chr	pos	ref	alt	hg38_chr	hg38_pos	RefSeq?	Ensembl?	RefSeq_region	RefSeq_gene	RefSeq_functional_consequence	RefSeq_id_c.change_p.change	Ensembl_region	Ensembl_gene	Ensembl_functional_consequence	Ensembl_id_c.change_p.change	ada_score	rf_score
18	158712	C	A	18	158712	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon1:c.C14A:p.S5Y;USP14:NM_005151:exon1:c.C14A:p.S5Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.C14A:p.S5Y;ENSG00000101557:ENST00000582707:exon1:c.C14A:p.S5Y;ENSG00000101557:ENST00000400266:exon1:c.C14A:p.S5Y;ENSG00000101557:ENST00000383589:exon1:c.C14A:p.S5Y;	0.0343118039520877	0.2
18	158712	C	G	18	158712	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon1:c.C14G:p.S5C;USP14:NM_005151:exon1:c.C14G:p.S5C;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.C14G:p.S5C;ENSG00000101557:ENST00000582707:exon1:c.C14G:p.S5C;ENSG00000101557:ENST00000400266:exon1:c.C14G:p.S5C;ENSG00000101557:ENST00000383589:exon1:c.C14G:p.S5C;	0.103061505926716	0.406
18	158712	C	T	18	158712	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon1:c.C14T:p.S5F;USP14:NM_005151:exon1:c.C14T:p.S5F;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.C14T:p.S5F;ENSG00000101557:ENST00000582707:exon1:c.C14T:p.S5F;ENSG00000101557:ENST00000400266:exon1:c.C14T:p.S5F;ENSG00000101557:ENST00000383589:exon1:c.C14T:p.S5F;	0.437487361013957	0.42
18	158713	C	A	18	158713	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon1:c.C15A:p.S5S;USP14:NM_005151:exon1:c.C15A:p.S5S;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.C15A:p.S5S;ENSG00000101557:ENST00000582707:exon1:c.C15A:p.S5S;ENSG00000101557:ENST00000400266:exon1:c.C15A:p.S5S;ENSG00000101557:ENST00000383589:exon1:c.C15A:p.S5S;	1.42567348639126E-4	0.136
18	158713	C	G	18	158713	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon1:c.C15G:p.S5S;USP14:NM_005151:exon1:c.C15G:p.S5S;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.C15G:p.S5S;ENSG00000101557:ENST00000582707:exon1:c.C15G:p.S5S;ENSG00000101557:ENST00000400266:exon1:c.C15G:p.S5S;ENSG00000101557:ENST00000383589:exon1:c.C15G:p.S5S;	8.69180299554684E-5	0.02
18	158713	C	T	18	158713	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon1:c.C15T:p.S5S;USP14:NM_005151:exon1:c.C15T:p.S5S;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.C15T:p.S5S;ENSG00000101557:ENST00000582707:exon1:c.C15T:p.S5S;ENSG00000101557:ENST00000400266:exon1:c.C15T:p.S5S;ENSG00000101557:ENST00000383589:exon1:c.C15T:p.S5S;	8.43644446170601E-5	0.006
18	158714	G	A	18	158714	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon1:c.G16A:p.V6I;USP14:NM_005151:exon1:c.G16A:p.V6I;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.G16A:p.V6I;ENSG00000101557:ENST00000582707:exon1:c.G16A:p.V6I;ENSG00000101557:ENST00000400266:exon1:c.G16A:p.V6I;ENSG00000101557:ENST00000383589:exon1:c.G16A:p.V6I;	0.999980746679199	1.0
18	158714	G	C	18	158714	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon1:c.G16C:p.V6L;USP14:NM_005151:exon1:c.G16C:p.V6L;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.G16C:p.V6L;ENSG00000101557:ENST00000582707:exon1:c.G16C:p.V6L;ENSG00000101557:ENST00000400266:exon1:c.G16C:p.V6L;ENSG00000101557:ENST00000383589:exon1:c.G16C:p.V6L;	0.999991486539382	0.958
18	158714	G	T	18	158714	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon1:c.G16T:p.V6F;USP14:NM_005151:exon1:c.G16T:p.V6F;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon1:c.G16T:p.V6F;ENSG00000101557:ENST00000582707:exon1:c.G16T:p.V6F;ENSG00000101557:ENST00000400266:exon1:c.G16T:p.V6F;ENSG00000101557:ENST00000383589:exon1:c.G16T:p.V6F;	0.999992159026495	0.992
18	158715	G	A	18	158715	y	y	splicing	USP14(NM_005151:exon1:c.16+1G>A;NM_001037334:exon1:c.16+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon1:c.16+1G>A;ENST00000400266:exon1:c.16+1G>A;ENST00000383589:exon1:c.16+1G>A;ENST00000261601:exon1:c.16+1G>A)	.	.	0.998546023726818	0.676
18	158715	G	C	18	158715	y	y	splicing	USP14(NM_005151:exon1:c.16+1G>C;NM_001037334:exon1:c.16+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon1:c.16+1G>C;ENST00000400266:exon1:c.16+1G>C;ENST00000383589:exon1:c.16+1G>C;ENST00000261601:exon1:c.16+1G>C)	.	.	0.998546023726818	0.664
18	158715	G	T	18	158715	y	y	splicing	USP14(NM_005151:exon1:c.16+1G>T;NM_001037334:exon1:c.16+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon1:c.16+1G>T;ENST00000400266:exon1:c.16+1G>T;ENST00000383589:exon1:c.16+1G>T;ENST00000261601:exon1:c.16+1G>T)	.	.	0.998546023726818	0.668
18	158716	T	A	18	158716	y	y	splicing	USP14(NM_005151:exon1:c.16+2T>A;NM_001037334:exon1:c.16+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon1:c.16+2T>A;ENST00000400266:exon1:c.16+2T>A;ENST00000383589:exon1:c.16+2T>A;ENST00000261601:exon1:c.16+2T>A)	.	.	0.999988390207502	0.922
18	158716	T	C	18	158716	y	y	splicing	USP14(NM_005151:exon1:c.16+2T>C;NM_001037334:exon1:c.16+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon1:c.16+2T>C;ENST00000400266:exon1:c.16+2T>C;ENST00000383589:exon1:c.16+2T>C;ENST00000261601:exon1:c.16+2T>C)	.	.	0.99998186331294	0.924
18	158716	T	G	18	158716	y	y	splicing	USP14(NM_005151:exon1:c.16+2T>G;NM_001037334:exon1:c.16+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon1:c.16+2T>G;ENST00000400266:exon1:c.16+2T>G;ENST00000383589:exon1:c.16+2T>G;ENST00000261601:exon1:c.16+2T>G)	.	.	0.999990611969007	0.898
18	158717	G	A	18	158717	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.02054986001536E-4	0.002
18	158717	G	C	18	158717	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.970878299528867	0.66
18	158717	G	T	18	158717	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.987049085127831	0.572
18	158718	A	C	18	158718	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.957468132622425	0.588
18	158718	A	G	18	158718	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.983439683957056	0.75
18	158718	A	T	18	158718	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.997563717052475	0.768
18	158719	G	A	18	158719	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999942352282186	0.984
18	158719	G	C	18	158719	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999804380983037	0.942
18	158719	G	T	18	158719	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999975809616782	0.984
18	158720	C	A	18	158720	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.003737450538074	0.078
18	158720	C	G	18	158720	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00645845976455416	0.042
18	158720	C	T	18	158720	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00142840397272498	0.014
18	158721	C	A	18	158721	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.73760298884343E-4	0.016
18	158721	C	G	18	158721	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.22942752890346E-5	0.012
18	158721	C	T	18	158721	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.20219801142246E-4	0.0
18	158722	C	A	18	158722	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.05715410220866E-4	0.004
18	158722	C	G	18	158722	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.05715410220866E-4	0.004
18	158722	C	T	18	158722	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.05715410220866E-4	0.072
18	159019	A	C	18	159019	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	1.58583481961545E-4	0.046
18	159019	A	G	18	159019	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	1.7480237882171E-4	0.046
18	159019	A	T	18	159019	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	1.58583481961545E-4	0.044
18	159020	G	A	18	159020	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	0.0188727900506883	0.028
18	159020	G	C	18	159020	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	0.0157253398734127	0.024
18	159020	G	T	18	159020	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	0.0188727900506883	0.028
18	159021	G	A	18	159021	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	0.0188727900506883	0.028
18	159021	G	C	18	159021	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	0.0157253398734127	0.028
18	159021	G	T	18	159021	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	0.0188727900506883	0.026
18	159022	G	A	18	159022	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	0.00127923335830091	0.008
18	159022	G	C	18	159022	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	0.00127923335830091	0.01
18	159022	G	T	18	159022	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	0.00127923335830091	0.01
18	159023	T	A	18	159023	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	4.35658515895286E-4	0.012
18	159023	T	C	18	159023	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	3.64239926299993E-4	0.012
18	159023	T	G	18	159023	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	3.64239926299993E-4	0.012
18	159024	G	A	18	159024	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00951067369662903	0.016
18	159024	G	C	18	159024	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00951067369662903	0.012
18	159024	G	T	18	159024	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00951067369662903	0.018
18	159025	T	A	18	159025	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.73571827865123E-4	0.062
18	159025	T	C	18	159025	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.75396211601341E-4	0.062
18	159025	T	G	18	159025	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.75396211601341E-4	0.062
18	159026	G	A	18	159026	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.10003799909504E-5	0.02
18	159026	G	C	18	159026	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.26424982550682E-5	0.0
18	159026	G	T	18	159026	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.78801534976706E-5	0.0
18	159027	T	A	18	159027	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.64431530690134E-4	0.03
18	159027	T	C	18	159027	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.64431530690134E-4	0.08
18	159027	T	G	18	159027	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.64431530690134E-4	0.08
18	159028	C	A	18	159028	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.68736567082768E-5	0.038
18	159028	C	G	18	159028	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.68736567082768E-5	0.038
18	159028	C	T	18	159028	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.68736567082768E-5	0.038
18	159029	C	A	18	159029	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.69930370103191E-5	0.0
18	159029	C	G	18	159029	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.69930370103191E-5	0.0
18	159029	C	T	18	159029	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.69930370103191E-5	0.0
18	162971	T	A	18	162971	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.72841159385093E-5	0.006
18	162971	T	C	18	162971	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.72841159385093E-5	0.006
18	162971	T	G	18	162971	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.72841159385093E-5	0.006
18	162972	A	C	18	162972	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.72841159385093E-5	0.006
18	162972	A	G	18	162972	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.72841159385093E-5	0.006
18	162972	A	T	18	162972	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.72841159385093E-5	0.006
18	162973	T	A	18	162973	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00132109871101171	0.042
18	162973	T	C	18	162973	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.33152596879021E-4	0.046
18	162973	T	G	18	162973	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.33152596879021E-4	0.046
18	162974	T	A	18	162974	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.00832436904377E-5	0.006
18	162974	T	C	18	162974	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.00832436904377E-5	0.006
18	162974	T	G	18	162974	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.00832436904377E-5	0.006
18	162975	T	A	18	162975	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.76705376348799E-4	0.022
18	162975	T	C	18	162975	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.76705376348799E-4	0.024
18	162975	T	G	18	162975	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.76705376348799E-4	0.024
18	162976	T	A	18	162976	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.76705376348799E-4	0.022
18	162976	T	C	18	162976	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.76705376348799E-4	0.024
18	162976	T	G	18	162976	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.76705376348799E-4	0.024
18	162977	T	A	18	162977	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.5529151830241E-5	0.006
18	162977	T	C	18	162977	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.5529151830241E-5	0.006
18	162977	T	G	18	162977	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.5529151830241E-5	0.006
18	162978	A	C	18	162978	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.8042999492716E-5	0.006
18	162978	A	G	18	162978	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.8042999492716E-5	0.006
18	162978	A	T	18	162978	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.73196147837547E-5	0.006
18	162979	T	A	18	162979	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.35428655471156E-5	0.012
18	162979	T	C	18	162979	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.49702646665041E-5	0.004
18	162979	T	G	18	162979	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.49702646665041E-5	0.004
18	162980	T	A	18	162980	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.73196147837547E-5	0.006
18	162980	T	C	18	162980	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.8042999492716E-5	0.006
18	162980	T	G	18	162980	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.8042999492716E-5	0.006
18	162981	A	C	18	162981	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	4.50687661477519E-4	0.022
18	162981	A	G	18	162981	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	4.50687661477519E-4	0.022
18	162981	A	T	18	162981	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	4.50687661477519E-4	0.022
18	162982	G	A	18	162982	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	4.96672793556748E-5	0.0
18	162982	G	C	18	162982	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	9.0271673026669E-5	0.0
18	162982	G	T	18	162982	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	9.0271673026669E-5	0.0
18	162983	A	C	18	162983	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	1.4076558401562E-4	0.01
18	162983	A	G	18	162983	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	1.4076558401562E-4	0.01
18	162983	A	T	18	162983	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	1.4076558401562E-4	0.01
18	162984	G	A	18	162984	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	2.50216286966048E-4	0.002
18	162984	G	C	18	162984	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	2.50216286966048E-4	0.004
18	162984	G	T	18	162984	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	2.50216286966048E-4	0.002
18	163172	T	A	18	163172	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	4.8042999492716E-5	0.004
18	163172	T	C	18	163172	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	4.8042999492716E-5	0.004
18	163172	T	G	18	163172	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	4.8042999492716E-5	0.004
18	163173	A	C	18	163173	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	8.24824353344448E-5	0.004
18	163173	A	G	18	163173	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	8.24824353344448E-5	0.004
18	163173	A	T	18	163173	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	3.76020749564062E-5	0.004
18	163174	G	A	18	163174	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	5.08291490468438E-5	0.01
18	163174	G	C	18	163174	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	5.08291490468438E-5	0.006
18	163174	G	T	18	163174	n	y	intronic	USP14	.	.	UTR5	ENSG00000101557	.	.	5.08291490468438E-5	0.006
18	163175	G	A	18	163175	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	5.08291490468438E-5	0.006
18	163175	G	C	18	163175	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	1.1738525533333E-5	0.0
18	163175	G	T	18	163175	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	1.1738525533333E-5	0.002
18	163176	T	A	18	163176	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	9.14971862334513E-5	0.008
18	163176	T	C	18	163176	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	9.14971862334513E-5	0.008
18	163176	T	G	18	163176	n	y	intronic	USP14	.	.	splicing	ENSG00000101557	.	.	9.14971862334513E-5	0.008
18	163177	A	C	18	163177	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.80274866394675E-5	0.0
18	163177	A	G	18	163177	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.80274866394675E-5	0.0
18	163177	A	T	18	163177	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.80274866394675E-5	0.0
18	163178	A	C	18	163178	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.17825650598919E-5	0.0
18	163178	A	G	18	163178	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.17825650598919E-5	0.0
18	163178	A	T	18	163178	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.17825650598919E-5	0.0
18	163179	G	A	18	163179	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.82685551969961E-5	0.002
18	163179	G	C	18	163179	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.82685551969961E-5	0.002
18	163179	G	T	18	163179	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.82685551969961E-5	0.002
18	163180	T	A	18	163180	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.552751562108E-5	0.01
18	163180	T	C	18	163180	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.47039489069415E-5	0.002
18	163180	T	G	18	163180	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.47039489069415E-5	0.004
18	163181	G	A	18	163181	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.10250552304391E-5	0.002
18	163181	G	C	18	163181	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.10250552304391E-5	0.002
18	163181	G	T	18	163181	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.10250552304391E-5	0.002
18	163182	T	A	18	163182	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.39457982047225E-5	0.0
18	163182	T	C	18	163182	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.27663100932972E-5	0.0
18	163182	T	G	18	163182	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.27663100932972E-5	0.0
18	163296	T	A	18	163296	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.211887312036422	0.444
18	163296	T	C	18	163296	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.04948913846093E-4	0.078
18	163296	T	G	18	163296	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999875414866735	0.958
18	163297	T	A	18	163297	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.663897557909137	0.428
18	163297	T	C	18	163297	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.001475602881679	0.15
18	163297	T	G	18	163297	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.388904816352231	0.396
18	163298	T	A	18	163298	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.76605546573283	0.49
18	163298	T	C	18	163298	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00158356686185637	0.092
18	163298	T	G	18	163298	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.288198889995825	0.482
18	163299	T	A	18	163299	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999955491272907	0.952
18	163299	T	C	18	163299	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00159086357751364	0.102
18	163299	T	G	18	163299	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.144271338646408	0.404
18	163300	G	A	18	163300	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.64381937726438E-5	0.006
18	163300	G	C	18	163300	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.27077994381583E-5	0.0
18	163300	G	T	18	163300	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.27077994381583E-5	0.0
18	163301	T	A	18	163301	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0181013509035809	0.236
18	163301	T	C	18	163301	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.61380692864257E-5	0.004
18	163301	T	G	18	163301	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00185652584321894	0.07
18	163302	T	A	18	163302	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.88753394777551	0.5
18	163302	T	C	18	163302	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.41480980560301E-4	0.05
18	163302	T	G	18	163302	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.37079416832461	0.444
18	163303	T	A	18	163303	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.998500316788045	0.932
18	163303	T	C	18	163303	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00151567931885441	0.102
18	163303	T	G	18	163303	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.524772043220203	0.386
18	163304	G	A	18	163304	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.78673653351389E-4	0.0
18	163304	G	C	18	163304	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.15662255535808E-5	0.004
18	163304	G	T	18	163304	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.24533439776366E-5	0.0
18	163305	C	A	18	163305	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999407442994129	0.938
18	163305	C	G	18	163305	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999805190333335	0.968
18	163305	C	T	18	163305	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.699183884709573	0.354
18	163306	A	C	18	163306	y	y	splicing	USP14(NM_005151:exon2:c.17-2A>C;NM_001037334:exon2:c.17-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.17-2A>C;ENST00000400266:exon2:c.17-2A>C;ENST00000383589:exon2:c.17-2A>C;ENST00000261601:exon2:c.17-2A>C)	.	.	0.999989917668626	0.914
18	163306	A	G	18	163306	y	y	splicing	USP14(NM_005151:exon2:c.17-2A>G;NM_001037334:exon2:c.17-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.17-2A>G;ENST00000400266:exon2:c.17-2A>G;ENST00000383589:exon2:c.17-2A>G;ENST00000261601:exon2:c.17-2A>G)	.	.	0.999989917668626	0.914
18	163306	A	T	18	163306	y	y	splicing	USP14(NM_005151:exon2:c.17-2A>T;NM_001037334:exon2:c.17-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.17-2A>T;ENST00000400266:exon2:c.17-2A>T;ENST00000383589:exon2:c.17-2A>T;ENST00000261601:exon2:c.17-2A>T)	.	.	0.999989917668626	0.916
18	163307	G	A	18	163307	y	y	splicing	USP14(NM_005151:exon2:c.17-1G>A;NM_001037334:exon2:c.17-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.17-1G>A;ENST00000400266:exon2:c.17-1G>A;ENST00000383589:exon2:c.17-1G>A;ENST00000261601:exon2:c.17-1G>A)	.	.	0.999976206550861	0.872
18	163307	G	C	18	163307	y	y	splicing	USP14(NM_005151:exon2:c.17-1G>C;NM_001037334:exon2:c.17-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.17-1G>C;ENST00000400266:exon2:c.17-1G>C;ENST00000383589:exon2:c.17-1G>C;ENST00000261601:exon2:c.17-1G>C)	.	.	0.999976206550861	0.916
18	163307	G	T	18	163307	y	y	splicing	USP14(NM_005151:exon2:c.17-1G>T;NM_001037334:exon2:c.17-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.17-1G>T;ENST00000400266:exon2:c.17-1G>T;ENST00000383589:exon2:c.17-1G>T;ENST00000261601:exon2:c.17-1G>T)	.	.	0.999976206550861	0.916
18	163308	T	A	18	163308	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.T17A:p.V6D;USP14:NM_005151:exon2:c.T17A:p.V6D;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.T17A:p.V6D;ENSG00000101557:ENST00000582707:exon2:c.T17A:p.V6D;ENSG00000101557:ENST00000400266:exon2:c.T17A:p.V6D;ENSG00000101557:ENST00000383589:exon2:c.T17A:p.V6D;	0.576806568027072	0.688
18	163308	T	C	18	163308	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.T17C:p.V6A;USP14:NM_005151:exon2:c.T17C:p.V6A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.T17C:p.V6A;ENSG00000101557:ENST00000582707:exon2:c.T17C:p.V6A;ENSG00000101557:ENST00000400266:exon2:c.T17C:p.V6A;ENSG00000101557:ENST00000383589:exon2:c.T17C:p.V6A;	0.590390179021301	0.728
18	163308	T	G	18	163308	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.T17G:p.V6G;USP14:NM_005151:exon2:c.T17G:p.V6G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.T17G:p.V6G;ENSG00000101557:ENST00000582707:exon2:c.T17G:p.V6G;ENSG00000101557:ENST00000400266:exon2:c.T17G:p.V6G;ENSG00000101557:ENST00000383589:exon2:c.T17G:p.V6G;	0.651510916489066	0.588
18	163309	T	A	18	163309	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon2:c.T18A:p.V6V;USP14:NM_005151:exon2:c.T18A:p.V6V;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.T18A:p.V6V;ENSG00000101557:ENST00000582707:exon2:c.T18A:p.V6V;ENSG00000101557:ENST00000400266:exon2:c.T18A:p.V6V;ENSG00000101557:ENST00000383589:exon2:c.T18A:p.V6V;	0.355117797165028	0.46
18	163309	T	C	18	163309	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon2:c.T18C:p.V6V;USP14:NM_005151:exon2:c.T18C:p.V6V;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.T18C:p.V6V;ENSG00000101557:ENST00000582707:exon2:c.T18C:p.V6V;ENSG00000101557:ENST00000400266:exon2:c.T18C:p.V6V;ENSG00000101557:ENST00000383589:exon2:c.T18C:p.V6V;	0.267382491273539	0.32
18	163309	T	G	18	163309	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon2:c.T18G:p.V6V;USP14:NM_005151:exon2:c.T18G:p.V6V;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.T18G:p.V6V;ENSG00000101557:ENST00000582707:exon2:c.T18G:p.V6V;ENSG00000101557:ENST00000400266:exon2:c.T18G:p.V6V;ENSG00000101557:ENST00000383589:exon2:c.T18G:p.V6V;	0.308741978857333	0.358
18	163451	A	C	18	163451	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.A160C:p.K54Q;USP14:NM_005151:exon2:c.A160C:p.K54Q;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.A160C:p.K54Q;ENSG00000101557:ENST00000581983:exon3:c.A82C:p.K28Q;ENSG00000101557:ENST00000582707:exon2:c.A160C:p.K54Q;ENSG00000101557:ENST00000400266:exon2:c.A160C:p.K54Q;ENSG00000101557:ENST00000383589:exon2:c.A160C:p.K54Q;	0.50759184687007	0.698
18	163451	A	G	18	163451	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.A160G:p.K54E;USP14:NM_005151:exon2:c.A160G:p.K54E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.A160G:p.K54E;ENSG00000101557:ENST00000581983:exon3:c.A82G:p.K28E;ENSG00000101557:ENST00000582707:exon2:c.A160G:p.K54E;ENSG00000101557:ENST00000400266:exon2:c.A160G:p.K54E;ENSG00000101557:ENST00000383589:exon2:c.A160G:p.K54E;	0.114352609727072	0.49
18	163451	A	T	18	163451	y	n	exonic	USP14	stopgain SNV	USP14:NM_001037334:exon2:c.A160T:p.K54X;USP14:NM_005151:exon2:c.A160T:p.K54X;	exonic	ENSG00000101557	stopgain SNV	ENSG00000101557:ENST00000261601:exon2:c.A160T:p.K54X;ENSG00000101557:ENST00000581983:exon3:c.A82T:p.K28X;ENSG00000101557:ENST00000582707:exon2:c.A160T:p.K54X;ENSG00000101557:ENST00000400266:exon2:c.A160T:p.K54X;ENSG00000101557:ENST00000383589:exon2:c.A160T:p.K54X;	0.964523357987183	0.694
18	163452	A	C	18	163452	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.A161C:p.K54T;USP14:NM_005151:exon2:c.A161C:p.K54T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.A161C:p.K54T;ENSG00000101557:ENST00000581983:exon3:c.A83C:p.K28T;ENSG00000101557:ENST00000582707:exon2:c.A161C:p.K54T;ENSG00000101557:ENST00000400266:exon2:c.A161C:p.K54T;ENSG00000101557:ENST00000383589:exon2:c.A161C:p.K54T;	0.99511936045429	0.808
18	163452	A	G	18	163452	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.A161G:p.K54R;USP14:NM_005151:exon2:c.A161G:p.K54R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.A161G:p.K54R;ENSG00000101557:ENST00000581983:exon3:c.A83G:p.K28R;ENSG00000101557:ENST00000582707:exon2:c.A161G:p.K54R;ENSG00000101557:ENST00000400266:exon2:c.A161G:p.K54R;ENSG00000101557:ENST00000383589:exon2:c.A161G:p.K54R;	0.998475965937219	0.892
18	163452	A	T	18	163452	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.A161T:p.K54M;USP14:NM_005151:exon2:c.A161T:p.K54M;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.A161T:p.K54M;ENSG00000101557:ENST00000581983:exon3:c.A83T:p.K28M;ENSG00000101557:ENST00000582707:exon2:c.A161T:p.K54M;ENSG00000101557:ENST00000400266:exon2:c.A161T:p.K54M;ENSG00000101557:ENST00000383589:exon2:c.A161T:p.K54M;	0.999191136219241	0.938
18	163453	G	A	18	163453	y	n	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon2:c.G162A:p.K54K;USP14:NM_005151:exon2:c.G162A:p.K54K;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.G162A:p.K54K;ENSG00000101557:ENST00000581983:exon3:c.G84A:p.K28K;ENSG00000101557:ENST00000582707:exon2:c.G162A:p.K54K;ENSG00000101557:ENST00000400266:exon2:c.G162A:p.K54K;ENSG00000101557:ENST00000383589:exon2:c.G162A:p.K54K;	0.999960437667005	0.99
18	163453	G	C	18	163453	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.G162C:p.K54N;USP14:NM_005151:exon2:c.G162C:p.K54N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.G162C:p.K54N;ENSG00000101557:ENST00000581983:exon3:c.G84C:p.K28N;ENSG00000101557:ENST00000582707:exon2:c.G162C:p.K54N;ENSG00000101557:ENST00000400266:exon2:c.G162C:p.K54N;ENSG00000101557:ENST00000383589:exon2:c.G162C:p.K54N;	0.999997690078459	0.984
18	163453	G	T	18	163453	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon2:c.G162T:p.K54N;USP14:NM_005151:exon2:c.G162T:p.K54N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon2:c.G162T:p.K54N;ENSG00000101557:ENST00000581983:exon3:c.G84T:p.K28N;ENSG00000101557:ENST00000582707:exon2:c.G162T:p.K54N;ENSG00000101557:ENST00000400266:exon2:c.G162T:p.K54N;ENSG00000101557:ENST00000383589:exon2:c.G162T:p.K54N;	0.999987469944553	0.984
18	163454	G	A	18	163454	y	n	splicing	USP14(NM_005151:exon2:c.162+1G>A;NM_001037334:exon2:c.162+1G>A)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000582707:exon2:c.162+1G>A;ENST00000400266:exon2:c.162+1G>A;ENST00000383589:exon2:c.162+1G>A;ENST00000261601:exon2:c.162+1G>A;ENST00000583119:exon1:c.61+1G>A)	unknown	UNKNOWN	0.999957897063701	0.894
18	163454	G	C	18	163454	y	n	splicing	USP14(NM_005151:exon2:c.162+1G>C;NM_001037334:exon2:c.162+1G>C)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000582707:exon2:c.162+1G>C;ENST00000400266:exon2:c.162+1G>C;ENST00000383589:exon2:c.162+1G>C;ENST00000261601:exon2:c.162+1G>C;ENST00000583119:exon1:c.61+1G>C)	unknown	UNKNOWN	0.999956785519844	0.876
18	163454	G	T	18	163454	y	n	splicing	USP14(NM_005151:exon2:c.162+1G>T;NM_001037334:exon2:c.162+1G>T)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000582707:exon2:c.162+1G>T;ENST00000400266:exon2:c.162+1G>T;ENST00000383589:exon2:c.162+1G>T;ENST00000261601:exon2:c.162+1G>T;ENST00000583119:exon1:c.61+1G>T)	unknown	UNKNOWN	0.999956785519844	0.86
18	163455	T	A	18	163455	y	n	splicing	USP14(NM_005151:exon2:c.162+2T>A;NM_001037334:exon2:c.162+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.162+2T>A;ENST00000400266:exon2:c.162+2T>A;ENST00000383589:exon2:c.162+2T>A;ENST00000261601:exon2:c.162+2T>A;ENST00000583119:exon1:c.61+2T>A)	.	.	0.999969255906173	0.844
18	163455	T	C	18	163455	y	n	splicing	USP14(NM_005151:exon2:c.162+2T>C;NM_001037334:exon2:c.162+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.162+2T>C;ENST00000400266:exon2:c.162+2T>C;ENST00000383589:exon2:c.162+2T>C;ENST00000261601:exon2:c.162+2T>C;ENST00000583119:exon1:c.61+2T>C)	.	.	0.942476075199289	0.558
18	163455	T	G	18	163455	y	n	splicing	USP14(NM_005151:exon2:c.162+2T>G;NM_001037334:exon2:c.162+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon2:c.162+2T>G;ENST00000400266:exon2:c.162+2T>G;ENST00000383589:exon2:c.162+2T>G;ENST00000261601:exon2:c.162+2T>G;ENST00000583119:exon1:c.61+2T>G)	.	.	0.999962958601995	0.842
18	163456	A	C	18	163456	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.9998762256253	0.954
18	163456	A	G	18	163456	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.988092793085582	0.55
18	163456	A	T	18	163456	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999817217633032	0.926
18	163457	A	C	18	163457	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.176457052518159	0.404
18	163457	A	G	18	163457	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.190289733623943	0.43
18	163457	A	T	18	163457	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.261168361922426	0.396
18	163458	A	C	18	163458	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.20701420345431E-4	0.064
18	163458	A	G	18	163458	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.27949537094125E-4	0.08
18	163458	A	T	18	163458	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.51246893157231E-4	0.036
18	163459	A	C	18	163459	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.13533164946405E-5	0.012
18	163459	A	G	18	163459	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.80246418649938E-6	0.004
18	163459	A	T	18	163459	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.55104672406341E-5	0.002
18	163460	T	A	18	163460	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.80988172497833E-5	0.004
18	163460	T	C	18	163460	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.3973947228424E-5	0.008
18	163460	T	G	18	163460	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.76277069600289E-5	0.004
18	163461	G	A	18	163461	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.25788420748545E-5	0.0
18	163461	G	C	18	163461	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.15424529502268E-5	0.0
18	163461	G	T	18	163461	y	n	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.3908744675345E-5	0.0
18	166775	T	A	18	166775	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.256054143745258	0.45
18	166775	T	C	18	166775	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00111995345263376	0.102
18	166775	T	G	18	166775	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.178263104120125	0.428
18	166776	C	A	18	166776	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.09057537818149E-5	0.014
18	166776	C	G	18	166776	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.0689874250911E-5	0.04
18	166776	C	T	18	166776	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.52515013039301E-5	0.0
18	166777	T	A	18	166777	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.356883574912625	0.398
18	166777	T	C	18	166777	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00147701549542957	0.134
18	166777	T	G	18	166777	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0920037293755132	0.478
18	166778	T	A	18	166778	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.720873568210679	0.47
18	166778	T	C	18	166778	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00136908520266666	0.1
18	166778	T	G	18	166778	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.17766756547873	0.416
18	166779	T	A	18	166779	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999925610926948	0.964
18	166779	T	C	18	166779	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.92397264131143E-4	0.022
18	166779	T	G	18	166779	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.146832276758986	0.4
18	166780	G	A	18	166780	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.87153106435118E-4	0.058
18	166780	G	C	18	166780	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.24435204959145E-5	0.016
18	166780	G	T	18	166780	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.24435204959145E-5	0.02
18	166781	A	C	18	166781	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.24167638332851E-5	0.022
18	166781	A	G	18	166781	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.42049204301339E-4	0.04
18	166781	A	T	18	166781	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.19342933895254E-4	0.032
18	166782	A	C	18	166782	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.82929824620842E-4	0.04
18	166782	A	G	18	166782	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999138840347068	0.942
18	166782	A	T	18	166782	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.19342933895254E-4	0.044
18	166783	A	C	18	166783	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.85335188139776E-4	0.01
18	166783	A	G	18	166783	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.924127506504247	0.796
18	166783	A	T	18	166783	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.82091088505898E-4	0.022
18	166784	C	A	18	166784	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.978130061324228	0.776
18	166784	C	G	18	166784	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999792674936534	0.752
18	166784	C	T	18	166784	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.45928617955402E-4	0.028
18	166785	A	C	18	166785	y	y	splicing	USP14(NM_005151:exon3:c.163-2A>C;NM_001037334:exon3:c.163-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.163-2A>C;ENST00000261601:exon3:c.163-2A>C)	.	.	0.999966203349492	0.936
18	166785	A	G	18	166785	y	y	splicing	USP14(NM_005151:exon3:c.163-2A>G;NM_001037334:exon3:c.163-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.163-2A>G;ENST00000261601:exon3:c.163-2A>G)	.	.	0.999966203349492	0.934
18	166785	A	T	18	166785	y	y	splicing	USP14(NM_005151:exon3:c.163-2A>T;NM_001037334:exon3:c.163-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.163-2A>T;ENST00000261601:exon3:c.163-2A>T)	.	.	0.999986903042585	0.936
18	166786	G	A	18	166786	y	y	splicing	USP14(NM_005151:exon3:c.163-1G>A;NM_001037334:exon3:c.163-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.163-1G>A;ENST00000261601:exon3:c.163-1G>A)	.	.	0.999986675681007	0.954
18	166786	G	C	18	166786	y	y	splicing	USP14(NM_005151:exon3:c.163-1G>C;NM_001037334:exon3:c.163-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.163-1G>C;ENST00000261601:exon3:c.163-1G>C)	.	.	0.999986675681007	0.954
18	166786	G	T	18	166786	y	y	splicing	USP14(NM_005151:exon3:c.163-1G>T;NM_001037334:exon3:c.163-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.163-1G>T;ENST00000261601:exon3:c.163-1G>T)	.	.	0.999986675681007	0.954
18	166787	G	A	18	166787	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.G163A:p.D55N;USP14:NM_005151:exon3:c.G163A:p.D55N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.G163A:p.D55N;ENSG00000101557:ENST00000582707:exon3:c.G163A:p.D55N;	0.999712203575431	0.93
18	166787	G	C	18	166787	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.G163C:p.D55H;USP14:NM_005151:exon3:c.G163C:p.D55H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.G163C:p.D55H;ENSG00000101557:ENST00000582707:exon3:c.G163C:p.D55H;	0.999616720971732	0.994
18	166787	G	T	18	166787	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.G163T:p.D55Y;USP14:NM_005151:exon3:c.G163T:p.D55Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.G163T:p.D55Y;ENSG00000101557:ENST00000582707:exon3:c.G163T:p.D55Y;	0.999823392262824	0.996
18	166788	A	C	18	166788	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A164C:p.D55A;USP14:NM_005151:exon3:c.A164C:p.D55A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A164C:p.D55A;ENSG00000101557:ENST00000582707:exon3:c.A164C:p.D55A;	0.862353247291085	0.824
18	166788	A	G	18	166788	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A164G:p.D55G;USP14:NM_005151:exon3:c.A164G:p.D55G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A164G:p.D55G;ENSG00000101557:ENST00000582707:exon3:c.A164G:p.D55G;	0.76525998154209	0.744
18	166788	A	T	18	166788	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A164T:p.D55V;USP14:NM_005151:exon3:c.A164T:p.D55V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A164T:p.D55V;ENSG00000101557:ENST00000582707:exon3:c.A164T:p.D55V;	0.699345838275327	0.682
18	166817	A	C	18	166817	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A193C:p.N65H;USP14:NM_005151:exon3:c.A193C:p.N65H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A193C:p.N65H;ENSG00000101557:ENST00000582707:exon3:c.A193C:p.N65H;	6.24829774916387E-5	0.006
18	166817	A	G	18	166817	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A193G:p.N65D;USP14:NM_005151:exon3:c.A193G:p.N65D;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A193G:p.N65D;ENSG00000101557:ENST00000582707:exon3:c.A193G:p.N65D;	1.29238219685117E-5	0.036
18	166817	A	T	18	166817	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A193T:p.N65Y;USP14:NM_005151:exon3:c.A193T:p.N65Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A193T:p.N65Y;ENSG00000101557:ENST00000582707:exon3:c.A193T:p.N65Y;	0.00635789825089765	0.276
18	166818	A	C	18	166818	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A194C:p.N65T;USP14:NM_005151:exon3:c.A194C:p.N65T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A194C:p.N65T;ENSG00000101557:ENST00000582707:exon3:c.A194C:p.N65T;	0.165204155571027	0.63
18	166818	A	G	18	166818	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A194G:p.N65S;USP14:NM_005151:exon3:c.A194G:p.N65S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A194G:p.N65S;ENSG00000101557:ENST00000582707:exon3:c.A194G:p.N65S;	0.178145964055187	0.374
18	166818	A	T	18	166818	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.A194T:p.N65I;USP14:NM_005151:exon3:c.A194T:p.N65I;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.A194T:p.N65I;ENSG00000101557:ENST00000582707:exon3:c.A194T:p.N65I;	0.125300783628564	0.576
18	166819	T	A	18	166819	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.T195A:p.N65K;USP14:NM_005151:exon3:c.T195A:p.N65K;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.T195A:p.N65K;ENSG00000101557:ENST00000582707:exon3:c.T195A:p.N65K;	0.552606777214976	0.644
18	166819	T	C	18	166819	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon3:c.T195C:p.N65N;USP14:NM_005151:exon3:c.T195C:p.N65N;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.T195C:p.N65N;ENSG00000101557:ENST00000582707:exon3:c.T195C:p.N65N;	0.131087870271414	0.26
18	166819	T	G	18	166819	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon3:c.T195G:p.N65K;USP14:NM_005151:exon3:c.T195G:p.N65K;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon3:c.T195G:p.N65K;ENSG00000101557:ENST00000582707:exon3:c.T195G:p.N65K;	0.205452287758663	0.304
18	166820	G	A	18	166820	y	y	splicing	USP14(NM_005151:exon3:c.195+1G>A;NM_001037334:exon3:c.195+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.195+1G>A;ENST00000261601:exon3:c.195+1G>A)	.	.	0.999986675681007	0.934
18	166820	G	C	18	166820	y	y	splicing	USP14(NM_005151:exon3:c.195+1G>C;NM_001037334:exon3:c.195+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.195+1G>C;ENST00000261601:exon3:c.195+1G>C)	.	.	0.999986675681007	0.934
18	166820	G	T	18	166820	y	y	splicing	USP14(NM_005151:exon3:c.195+1G>T;NM_001037334:exon3:c.195+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.195+1G>T;ENST00000261601:exon3:c.195+1G>T)	.	.	0.999986675681007	0.934
18	166821	T	A	18	166821	y	y	splicing	USP14(NM_005151:exon3:c.195+2T>A;NM_001037334:exon3:c.195+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.195+2T>A;ENST00000261601:exon3:c.195+2T>A)	.	.	0.999989917668626	0.926
18	166821	T	C	18	166821	y	y	splicing	USP14(NM_005151:exon3:c.195+2T>C;NM_001037334:exon3:c.195+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.195+2T>C;ENST00000261601:exon3:c.195+2T>C)	.	.	0.986528855787127	0.608
18	166821	T	G	18	166821	y	y	splicing	USP14(NM_005151:exon3:c.195+2T>G;NM_001037334:exon3:c.195+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon3:c.195+2T>G;ENST00000261601:exon3:c.195+2T>G)	.	.	0.999989917668626	0.924
18	166822	A	C	18	166822	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999656450658451	0.842
18	166822	A	G	18	166822	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00165074296776981	0.062
18	166822	A	T	18	166822	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999659624813855	0.768
18	166823	A	C	18	166823	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.890103686103538	0.62
18	166823	A	G	18	166823	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.983833180287051	0.73
18	166823	A	T	18	166823	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.971279508506159	0.712
18	166824	G	A	18	166824	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999377857844496	0.968
18	166824	G	C	18	166824	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.979986235938387	0.784
18	166824	G	T	18	166824	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999897760167566	0.91
18	166825	T	A	18	166825	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.736930350151566	0.49
18	166825	T	C	18	166825	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.774771751373535	0.548
18	166825	T	G	18	166825	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.350849154402684	0.464
18	166826	A	C	18	166826	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.82060308143537E-4	0.024
18	166826	A	G	18	166826	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.82060308143537E-4	0.024
18	166826	A	T	18	166826	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.0277112571666E-4	0.03
18	166827	T	A	18	166827	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.33658522064642E-4	0.012
18	166827	T	C	18	166827	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.26627234528651E-4	0.016
18	166827	T	G	18	166827	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.26627234528651E-4	0.014
18	178889	C	A	18	178889	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.49702646665041E-5	0.006
18	178889	C	G	18	178889	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.49702646665041E-5	0.004
18	178889	C	T	18	178889	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.49702646665041E-5	0.074
18	178890	C	A	18	178890	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.51667491970482E-5	0.002
18	178890	C	G	18	178890	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.51667491970482E-5	0.002
18	178890	C	T	18	178890	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.51667491970482E-5	0.002
18	178891	A	C	18	178891	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.39826558468951E-5	0.008
18	178891	A	G	18	178891	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.39826558468951E-5	0.008
18	178891	A	T	18	178891	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.39826558468951E-5	0.008
18	178892	A	C	18	178892	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.38047987314901E-5	0.002
18	178892	A	G	18	178892	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.38047987314901E-5	0.002
18	178892	A	T	18	178892	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.38047987314901E-5	0.002
18	178893	C	A	18	178893	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.07620641825897E-5	0.0
18	178893	C	G	18	178893	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.07620641825897E-5	0.0
18	178893	C	T	18	178893	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.07620641825897E-5	0.0
18	178894	T	A	18	178894	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00268239304290463	0.028
18	178894	T	C	18	178894	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00334951611379405	0.038
18	178894	T	G	18	178894	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00334951611379405	0.038
18	178895	T	A	18	178895	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.68433810549259E-5	0.0
18	178895	T	C	18	178895	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.68433810549259E-5	0.0
18	178895	T	G	18	178895	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.68433810549259E-5	0.0
18	178896	T	A	18	178896	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.68433810549259E-5	0.0
18	178896	T	C	18	178896	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.68433810549259E-5	0.0
18	178896	T	G	18	178896	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.68433810549259E-5	0.0
18	178897	T	A	18	178897	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.95241758590049E-5	0.002
18	178897	T	C	18	178897	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.95241758590049E-5	0.002
18	178897	T	G	18	178897	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.95241758590049E-5	0.002
18	178898	A	C	18	178898	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.82827935381688E-5	0.002
18	178898	A	G	18	178898	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.82827935381688E-5	0.002
18	178898	A	T	18	178898	n	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.82827935381688E-5	0.002
18	178899	A	C	18	178899	n	y	intronic	USP14	.	.	splicing	ENSG00000101557(ENST00000583119:exon2:c.62-2A>C)	.	.	7.62500938860321E-5	0.0
18	178899	A	G	18	178899	n	y	intronic	USP14	.	.	splicing	ENSG00000101557(ENST00000583119:exon2:c.62-2A>G)	.	.	7.62500938860321E-5	0.0
18	178899	A	T	18	178899	n	y	intronic	USP14	.	.	splicing	ENSG00000101557(ENST00000583119:exon2:c.62-2A>T)	.	.	7.62500938860321E-5	0.0
18	178900	G	A	18	178900	n	y	intronic	USP14	.	.	splicing	ENSG00000101557(ENST00000583119:exon2:c.62-1G>A)	.	.	7.70373002829532E-4	0.008
18	178900	G	C	18	178900	n	y	intronic	USP14	.	.	splicing	ENSG00000101557(ENST00000583119:exon2:c.62-1G>C)	.	.	5.72247645960254E-4	0.012
18	178900	G	T	18	178900	n	y	intronic	USP14	.	.	splicing	ENSG00000101557(ENST00000583119:exon2:c.62-1G>T)	.	.	7.83041080521012E-4	0.024
18	178901	G	A	18	178901	n	y	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	6.51383879749987E-5	0.0
18	178901	G	C	18	178901	n	y	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	6.51383879749987E-5	0.0
18	178901	G	T	18	178901	n	y	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	6.51383879749987E-5	0.0
18	178902	A	C	18	178902	n	y	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	3.52956553120982E-4	0.016
18	178902	A	G	18	178902	n	y	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	3.52956553120982E-4	0.016
18	178902	A	T	18	178902	n	y	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	4.47677940493536E-4	0.036
18	178921	T	A	18	178921	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.321667534026635	0.462
18	178921	T	C	18	178921	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	1.68338895437157E-4	0.072
18	178921	T	G	18	178921	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.0531257219922711	0.474
18	178922	T	A	18	178922	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.731999177318904	0.506
18	178922	T	C	18	178922	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.0374814595216345	0.308
18	178922	T	G	18	178922	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.508457485631172	0.492
18	178923	T	A	18	178923	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.728517980108187	0.49
18	178923	T	C	18	178923	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.00473603705076315	0.164
18	178923	T	G	18	178923	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.794506229159279	0.594
18	178924	T	A	18	178924	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.148789278766066	0.486
18	178924	T	C	18	178924	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	3.36312571681917E-4	0.052
18	178924	T	G	18	178924	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.209926714223739	0.534
18	178925	A	C	18	178925	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	1.67944982512943E-5	0.0
18	178925	A	G	18	178925	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	3.15949116006208E-5	0.016
18	178925	A	T	18	178925	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	1.67944982512943E-5	0.0
18	178926	A	C	18	178926	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	2.72698803105811E-5	0.01
18	178926	A	G	18	178926	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.99436042082832	0.93
18	178926	A	T	18	178926	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	2.94247998792124E-5	0.008
18	178927	A	C	18	178927	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	4.37430846075395E-5	0.004
18	178927	A	G	18	178927	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.995069362105064	0.886
18	178927	A	T	18	178927	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	4.73310567090313E-5	0.024
18	178928	A	C	18	178928	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	7.61917453056411E-5	0.01
18	178928	A	G	18	178928	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.998547275765503	0.988
18	178928	A	T	18	178928	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	2.08775594807439E-4	0.04
18	178929	A	C	18	178929	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	3.80928401494973E-4	0.036
18	178929	A	G	18	178929	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.976261756255433	0.802
18	178929	A	T	18	178929	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	9.54571530686333E-4	0.024
18	178930	C	A	18	178930	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.89693567236859	0.746
18	178930	C	G	18	178930	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.99730719355435	0.756
18	178930	C	T	18	178930	y	n	intronic	USP14	.	.	exonic	ENSG00000101557	unknown	UNKNOWN	0.00173743725590386	0.096
18	178931	A	C	18	178931	y	n	splicing	USP14(NM_005151:exon4:c.196-2A>C)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000400266:exon3:c.163-2A>C;ENST00000261601:exon4:c.196-2A>C)	unknown	UNKNOWN	0.999991057698317	0.918
18	178931	A	G	18	178931	y	n	splicing	USP14(NM_005151:exon4:c.196-2A>G)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000400266:exon3:c.163-2A>G;ENST00000261601:exon4:c.196-2A>G)	unknown	UNKNOWN	0.999991057698317	0.918
18	178931	A	T	18	178931	y	n	splicing	USP14(NM_005151:exon4:c.196-2A>T)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000400266:exon3:c.163-2A>T;ENST00000261601:exon4:c.196-2A>T)	unknown	UNKNOWN	0.999991057698317	0.918
18	178932	G	A	18	178932	y	n	splicing	USP14(NM_005151:exon4:c.196-1G>A)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000400266:exon3:c.163-1G>A;ENST00000261601:exon4:c.196-1G>A)	unknown	UNKNOWN	0.999991452106141	0.91
18	178932	G	C	18	178932	y	n	splicing	USP14(NM_005151:exon4:c.196-1G>C)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000400266:exon3:c.163-1G>C;ENST00000261601:exon4:c.196-1G>C)	unknown	UNKNOWN	0.999991452106141	0.91
18	178932	G	T	18	178932	y	n	splicing	USP14(NM_005151:exon4:c.196-1G>T)	.	.	exonic;splicing	ENSG00000101557;ENSG00000101557(ENST00000400266:exon3:c.163-1G>T;ENST00000261601:exon4:c.196-1G>T)	unknown	UNKNOWN	0.999991452106141	0.91
18	178933	G	A	18	178933	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.G196A:p.G66R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.G196A:p.G66R;ENSG00000101557:ENST00000400266:exon3:c.G163A:p.G55R;	0.998544251966786	0.906
18	178933	G	C	18	178933	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.G196C:p.G66R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.G196C:p.G66R;ENSG00000101557:ENST00000400266:exon3:c.G163C:p.G55R;	0.999784827724847	0.964
18	178933	G	T	18	178933	y	n	exonic	USP14	stopgain SNV	USP14:NM_005151:exon4:c.G196T:p.G66X;	exonic	ENSG00000101557	stopgain SNV	ENSG00000101557:ENST00000261601:exon4:c.G196T:p.G66X;ENSG00000101557:ENST00000400266:exon3:c.G163T:p.G55X;	0.999594912973041	0.986
18	178934	G	A	18	178934	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.G197A:p.G66E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.G197A:p.G66E;ENSG00000101557:ENST00000400266:exon3:c.G164A:p.G55E;	0.982460393900922	0.726
18	178934	G	C	18	178934	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.G197C:p.G66A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.G197C:p.G66A;ENSG00000101557:ENST00000400266:exon3:c.G164C:p.G55A;	0.973935733573189	0.73
18	178934	G	T	18	178934	y	n	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.G197T:p.G66V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.G197T:p.G66V;ENSG00000101557:ENST00000400266:exon3:c.G164T:p.G55V;	0.97311304101076	0.852
18	179035	G	A	18	179035	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.G298A:p.A100T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.G298A:p.A100T;ENSG00000101557:ENST00000400266:exon3:c.G265A:p.A89T;	0.940995536457981	0.782
18	179035	G	C	18	179035	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.G298C:p.A100P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.G298C:p.A100P;ENSG00000101557:ENST00000400266:exon3:c.G265C:p.A89P;	0.940995536457981	0.746
18	179035	G	T	18	179035	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.G298T:p.A100S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.G298T:p.A100S;ENSG00000101557:ENST00000400266:exon3:c.G265T:p.A89S;	0.973149765610177	0.748
18	179036	C	A	18	179036	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.C299A:p.A100D;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.C299A:p.A100D;ENSG00000101557:ENST00000400266:exon3:c.C266A:p.A89D;	0.961818987607628	0.734
18	179036	C	G	18	179036	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.C299G:p.A100G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.C299G:p.A100G;ENSG00000101557:ENST00000400266:exon3:c.C266G:p.A89G;	0.985291272756047	0.862
18	179036	C	T	18	179036	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_005151:exon4:c.C299T:p.A100V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.C299T:p.A100V;ENSG00000101557:ENST00000400266:exon3:c.C266T:p.A89V;	0.976840707671674	0.704
18	179037	T	A	18	179037	y	y	exonic	USP14	synonymous SNV	USP14:NM_005151:exon4:c.T300A:p.A100A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.T300A:p.A100A;ENSG00000101557:ENST00000400266:exon3:c.T267A:p.A89A;	4.31512439237902E-5	0.004
18	179037	T	C	18	179037	y	y	exonic	USP14	synonymous SNV	USP14:NM_005151:exon4:c.T300C:p.A100A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.T300C:p.A100A;ENSG00000101557:ENST00000400266:exon3:c.T267C:p.A89A;	1.22433277332077E-4	0.208
18	179037	T	G	18	179037	y	y	exonic	USP14	synonymous SNV	USP14:NM_005151:exon4:c.T300G:p.A100A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon4:c.T300G:p.A100A;ENSG00000101557:ENST00000400266:exon3:c.T267G:p.A89A;	8.07858334439528E-5	0.006
18	179038	G	A	18	179038	y	y	splicing	USP14(NM_005151:exon4:c.300+1G>A)	.	.	splicing	ENSG00000101557(ENST00000400266:exon3:c.267+1G>A;ENST00000261601:exon4:c.300+1G>A;ENST00000583119:exon2:c.198+1G>A)	.	.	0.999977919436194	0.93
18	179038	G	C	18	179038	y	y	splicing	USP14(NM_005151:exon4:c.300+1G>C)	.	.	splicing	ENSG00000101557(ENST00000400266:exon3:c.267+1G>C;ENST00000261601:exon4:c.300+1G>C;ENST00000583119:exon2:c.198+1G>C)	.	.	0.999977919436194	0.924
18	179038	G	T	18	179038	y	y	splicing	USP14(NM_005151:exon4:c.300+1G>T)	.	.	splicing	ENSG00000101557(ENST00000400266:exon3:c.267+1G>T;ENST00000261601:exon4:c.300+1G>T;ENST00000583119:exon2:c.198+1G>T)	.	.	0.999977919436194	0.93
18	179039	T	A	18	179039	y	y	splicing	USP14(NM_005151:exon4:c.300+2T>A)	.	.	splicing	ENSG00000101557(ENST00000400266:exon3:c.267+2T>A;ENST00000261601:exon4:c.300+2T>A;ENST00000583119:exon2:c.198+2T>A)	.	.	0.99993872479901	0.94
18	179039	T	C	18	179039	y	y	splicing	USP14(NM_005151:exon4:c.300+2T>C)	.	.	splicing	ENSG00000101557(ENST00000400266:exon3:c.267+2T>C;ENST00000261601:exon4:c.300+2T>C;ENST00000583119:exon2:c.198+2T>C)	.	.	0.999678218007201	0.904
18	179039	T	G	18	179039	y	y	splicing	USP14(NM_005151:exon4:c.300+2T>G)	.	.	splicing	ENSG00000101557(ENST00000400266:exon3:c.267+2T>G;ENST00000261601:exon4:c.300+2T>G;ENST00000583119:exon2:c.198+2T>G)	.	.	0.99993872479901	0.948
18	179040	A	C	18	179040	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999815794059726	0.876
18	179040	A	G	18	179040	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.942338020520419	0.59
18	179040	A	T	18	179040	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999740069124283	0.886
18	179041	A	C	18	179041	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999949685130174	0.878
18	179041	A	G	18	179041	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999815794059726	0.866
18	179041	A	T	18	179041	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999709329024846	0.858
18	179042	G	A	18	179042	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999954004103631	0.98
18	179042	G	C	18	179042	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999981628433148	0.982
18	179042	G	T	18	179042	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.99998059748421	0.972
18	179043	A	C	18	179043	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.95837273943458E-4	0.092
18	179043	A	G	18	179043	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.48758581884844E-4	0.008
18	179043	A	T	18	179043	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.07847039232268E-4	0.064
18	179044	C	A	18	179044	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.73099836033318E-5	0.004
18	179044	C	G	18	179044	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.59065322643107E-5	0.01
18	179044	C	T	18	179044	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.15710506851771E-5	0.018
18	179045	A	C	18	179045	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.42701614169897E-5	0.012
18	179045	A	G	18	179045	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.42701614169897E-5	0.0
18	179045	A	T	18	179045	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.42701614169897E-5	0.0
18	180224	T	A	18	180224	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0662257814781791	0.51
18	180224	T	C	18	180224	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.95046644253264E-5	0.016
18	180224	T	G	18	180224	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0025368673415476	0.31
18	180225	T	A	18	180225	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.285882848735642	0.618
18	180225	T	C	18	180225	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.86218264554877E-4	0.108
18	180225	T	G	18	180225	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.559294602739337	0.622
18	180226	T	A	18	180226	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0224010842361157	0.438
18	180226	T	C	18	180226	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.44830448535446E-5	0.038
18	180226	T	G	18	180226	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00558883053888894	0.312
18	180227	T	A	18	180227	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0123706459678008	0.228
18	180227	T	C	18	180227	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.04738079486901E-5	0.018
18	180227	T	G	18	180227	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00697130449893984	0.244
18	180228	C	A	18	180228	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.93154193279813E-4	0.134
18	180228	C	G	18	180228	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.96840025143831E-4	0.152
18	180228	C	T	18	180228	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.2143707827114E-5	0.028
18	180229	C	A	18	180229	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.01146766204536E-4	0.038
18	180229	C	G	18	180229	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.60940698389113E-4	0.072
18	180229	C	T	18	180229	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.28678120890658E-5	0.036
18	180230	A	C	18	180230	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.63065284904611E-6	0.0
18	180230	A	G	18	180230	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.7576732135629E-5	0.0
18	180230	A	T	18	180230	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.6822908548668E-5	0.0
18	180231	A	C	18	180231	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.6262849731022E-5	0.0
18	180231	A	G	18	180231	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.985718321336794	0.962
18	180231	A	T	18	180231	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.95076949036759E-5	0.0
18	180232	C	A	18	180232	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.47550917913978E-5	0.004
18	180232	C	G	18	180232	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.948828121020609	0.666
18	180232	C	T	18	180232	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.09368845352304E-5	0.006
18	180233	T	A	18	180233	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0216864236753194	0.298
18	180233	T	C	18	180233	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.42496678992863E-4	0.002
18	180233	T	G	18	180233	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.926147783903222	0.692
18	180234	A	C	18	180234	y	y	splicing	USP14(NM_005151:exon5:c.301-2A>C;NM_001037334:exon4:c.196-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.196-2A>C;ENST00000400266:exon4:c.268-2A>C;ENST00000383589:exon3:c.163-2A>C;ENST00000261601:exon5:c.301-2A>C;ENST00000583119:exon3:c.199-2A>C)	.	.	0.999972155025474	0.85
18	180234	A	G	18	180234	y	y	splicing	USP14(NM_005151:exon5:c.301-2A>G;NM_001037334:exon4:c.196-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.196-2A>G;ENST00000400266:exon4:c.268-2A>G;ENST00000383589:exon3:c.163-2A>G;ENST00000261601:exon5:c.301-2A>G;ENST00000583119:exon3:c.199-2A>G)	.	.	0.999972155025474	0.85
18	180234	A	T	18	180234	y	y	splicing	USP14(NM_005151:exon5:c.301-2A>T;NM_001037334:exon4:c.196-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.196-2A>T;ENST00000400266:exon4:c.268-2A>T;ENST00000383589:exon3:c.163-2A>T;ENST00000261601:exon5:c.301-2A>T;ENST00000583119:exon3:c.199-2A>T)	.	.	0.999971317418422	0.888
18	180235	G	A	18	180235	y	y	splicing	USP14(NM_005151:exon5:c.301-1G>A;NM_001037334:exon4:c.196-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.196-1G>A;ENST00000400266:exon4:c.268-1G>A;ENST00000383589:exon3:c.163-1G>A;ENST00000261601:exon5:c.301-1G>A;ENST00000583119:exon3:c.199-1G>A)	.	.	0.999945530492988	0.902
18	180235	G	C	18	180235	y	y	splicing	USP14(NM_005151:exon5:c.301-1G>C;NM_001037334:exon4:c.196-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.196-1G>C;ENST00000400266:exon4:c.268-1G>C;ENST00000383589:exon3:c.163-1G>C;ENST00000261601:exon5:c.301-1G>C;ENST00000583119:exon3:c.199-1G>C)	.	.	0.99996748057446	0.904
18	180235	G	T	18	180235	y	y	splicing	USP14(NM_005151:exon5:c.301-1G>T;NM_001037334:exon4:c.196-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.196-1G>T;ENST00000400266:exon4:c.268-1G>T;ENST00000383589:exon3:c.163-1G>T;ENST00000261601:exon5:c.301-1G>T;ENST00000583119:exon3:c.199-1G>T)	.	.	0.99996748057446	0.906
18	180236	A	C	18	180236	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.A196C:p.M66L;USP14:NM_005151:exon5:c.A301C:p.M101L;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A301C:p.M101L;ENSG00000101557:ENST00000582707:exon4:c.A196C:p.M66L;ENSG00000101557:ENST00000400266:exon4:c.A268C:p.M90L;ENSG00000101557:ENST00000383589:exon3:c.A163C:p.M55L;	0.00297019500404082	0.122
18	180236	A	G	18	180236	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.A196G:p.M66V;USP14:NM_005151:exon5:c.A301G:p.M101V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A301G:p.M101V;ENSG00000101557:ENST00000582707:exon4:c.A196G:p.M66V;ENSG00000101557:ENST00000400266:exon4:c.A268G:p.M90V;ENSG00000101557:ENST00000383589:exon3:c.A163G:p.M55V;	0.00158046969550204	0.024
18	180236	A	T	18	180236	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.A196T:p.M66L;USP14:NM_005151:exon5:c.A301T:p.M101L;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A301T:p.M101L;ENSG00000101557:ENST00000582707:exon4:c.A196T:p.M66L;ENSG00000101557:ENST00000400266:exon4:c.A268T:p.M90L;ENSG00000101557:ENST00000383589:exon3:c.A163T:p.M55L;	0.00321038511410963	0.094
18	180237	T	A	18	180237	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.T197A:p.M66K;USP14:NM_005151:exon5:c.T302A:p.M101K;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.T302A:p.M101K;ENSG00000101557:ENST00000582707:exon4:c.T197A:p.M66K;ENSG00000101557:ENST00000400266:exon4:c.T269A:p.M90K;ENSG00000101557:ENST00000383589:exon3:c.T164A:p.M55K;	0.175976721754507	0.25
18	180237	T	C	18	180237	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.T197C:p.M66T;USP14:NM_005151:exon5:c.T302C:p.M101T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.T302C:p.M101T;ENSG00000101557:ENST00000582707:exon4:c.T197C:p.M66T;ENSG00000101557:ENST00000400266:exon4:c.T269C:p.M90T;ENSG00000101557:ENST00000383589:exon3:c.T164C:p.M55T;	0.0329485854326636	0.164
18	180237	T	G	18	180237	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.T197G:p.M66R;USP14:NM_005151:exon5:c.T302G:p.M101R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.T302G:p.M101R;ENSG00000101557:ENST00000582707:exon4:c.T197G:p.M66R;ENSG00000101557:ENST00000400266:exon4:c.T269G:p.M90R;ENSG00000101557:ENST00000383589:exon3:c.T164G:p.M55R;	0.627091823419265	0.318
18	180337	A	C	18	180337	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.A297C:p.K99N;USP14:NM_005151:exon5:c.A402C:p.K134N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A402C:p.K134N;ENSG00000101557:ENST00000582707:exon4:c.A297C:p.K99N;ENSG00000101557:ENST00000400266:exon4:c.A369C:p.K123N;ENSG00000101557:ENST00000383589:exon3:c.A264C:p.K88N;	3.52538622201047E-4	0.004
18	180337	A	G	18	180337	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon4:c.A297G:p.K99K;USP14:NM_005151:exon5:c.A402G:p.K134K;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A402G:p.K134K;ENSG00000101557:ENST00000582707:exon4:c.A297G:p.K99K;ENSG00000101557:ENST00000400266:exon4:c.A369G:p.K123K;ENSG00000101557:ENST00000383589:exon3:c.A264G:p.K88K;	0.0012412885279506	0.028
18	180337	A	T	18	180337	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.A297T:p.K99N;USP14:NM_005151:exon5:c.A402T:p.K134N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A402T:p.K134N;ENSG00000101557:ENST00000582707:exon4:c.A297T:p.K99N;ENSG00000101557:ENST00000400266:exon4:c.A369T:p.K123N;ENSG00000101557:ENST00000383589:exon3:c.A264T:p.K88N;	0.0179322816611493	0.21
18	180338	A	C	18	180338	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon4:c.A298C:p.R100R;USP14:NM_005151:exon5:c.A403C:p.R135R;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A403C:p.R135R;ENSG00000101557:ENST00000582707:exon4:c.A298C:p.R100R;ENSG00000101557:ENST00000400266:exon4:c.A370C:p.R124R;ENSG00000101557:ENST00000383589:exon3:c.A265C:p.R89R;	0.97516849948978	0.808
18	180338	A	G	18	180338	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.A298G:p.R100G;USP14:NM_005151:exon5:c.A403G:p.R135G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A403G:p.R135G;ENSG00000101557:ENST00000582707:exon4:c.A298G:p.R100G;ENSG00000101557:ENST00000400266:exon4:c.A370G:p.R124G;ENSG00000101557:ENST00000383589:exon3:c.A265G:p.R89G;	0.986160917026502	0.914
18	180338	A	T	18	180338	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.A298T:p.R100W;USP14:NM_005151:exon5:c.A403T:p.R135W;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.A403T:p.R135W;ENSG00000101557:ENST00000582707:exon4:c.A298T:p.R100W;ENSG00000101557:ENST00000400266:exon4:c.A370T:p.R124W;ENSG00000101557:ENST00000383589:exon3:c.A265T:p.R89W;	0.992193803204749	0.664
18	180339	G	A	18	180339	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.G299A:p.R100K;USP14:NM_005151:exon5:c.G404A:p.R135K;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.G404A:p.R135K;ENSG00000101557:ENST00000582707:exon4:c.G299A:p.R100K;ENSG00000101557:ENST00000400266:exon4:c.G371A:p.R124K;ENSG00000101557:ENST00000383589:exon3:c.G266A:p.R89K;	0.999445986067317	0.982
18	180339	G	C	18	180339	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.G299C:p.R100T;USP14:NM_005151:exon5:c.G404C:p.R135T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.G404C:p.R135T;ENSG00000101557:ENST00000582707:exon4:c.G299C:p.R100T;ENSG00000101557:ENST00000400266:exon4:c.G371C:p.R124T;ENSG00000101557:ENST00000383589:exon3:c.G266C:p.R89T;	0.999897155839226	0.95
18	180339	G	T	18	180339	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon4:c.G299T:p.R100M;USP14:NM_005151:exon5:c.G404T:p.R135M;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon5:c.G404T:p.R135M;ENSG00000101557:ENST00000582707:exon4:c.G299T:p.R100M;ENSG00000101557:ENST00000400266:exon4:c.G371T:p.R124M;ENSG00000101557:ENST00000383589:exon3:c.G266T:p.R89M;	0.999943816459789	0.83
18	180340	G	A	18	180340	y	y	splicing	USP14(NM_005151:exon5:c.404+1G>A;NM_001037334:exon4:c.299+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.299+1G>A;ENST00000400266:exon4:c.371+1G>A;ENST00000383589:exon3:c.266+1G>A;ENST00000261601:exon5:c.404+1G>A;ENST00000583119:exon3:c.302+1G>A)	.	.	0.999986675681007	0.932
18	180340	G	C	18	180340	y	y	splicing	USP14(NM_005151:exon5:c.404+1G>C;NM_001037334:exon4:c.299+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.299+1G>C;ENST00000400266:exon4:c.371+1G>C;ENST00000383589:exon3:c.266+1G>C;ENST00000261601:exon5:c.404+1G>C;ENST00000583119:exon3:c.302+1G>C)	.	.	0.999986675681007	0.932
18	180340	G	T	18	180340	y	y	splicing	USP14(NM_005151:exon5:c.404+1G>T;NM_001037334:exon4:c.299+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.299+1G>T;ENST00000400266:exon4:c.371+1G>T;ENST00000383589:exon3:c.266+1G>T;ENST00000261601:exon5:c.404+1G>T;ENST00000583119:exon3:c.302+1G>T)	.	.	0.999986675681007	0.932
18	180341	T	A	18	180341	y	y	splicing	USP14(NM_005151:exon5:c.404+2T>A;NM_001037334:exon4:c.299+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.299+2T>A;ENST00000400266:exon4:c.371+2T>A;ENST00000383589:exon3:c.266+2T>A;ENST00000261601:exon5:c.404+2T>A;ENST00000583119:exon3:c.302+2T>A)	.	.	0.99994568797423	0.93
18	180341	T	C	18	180341	y	y	splicing	USP14(NM_005151:exon5:c.404+2T>C;NM_001037334:exon4:c.299+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.299+2T>C;ENST00000400266:exon4:c.371+2T>C;ENST00000383589:exon3:c.266+2T>C;ENST00000261601:exon5:c.404+2T>C;ENST00000583119:exon3:c.302+2T>C)	.	.	0.961316586553648	0.65
18	180341	T	G	18	180341	y	y	splicing	USP14(NM_005151:exon5:c.404+2T>G;NM_001037334:exon4:c.299+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon4:c.299+2T>G;ENST00000400266:exon4:c.371+2T>G;ENST00000383589:exon3:c.266+2T>G;ENST00000261601:exon5:c.404+2T>G;ENST00000583119:exon3:c.302+2T>G)	.	.	0.99994568797423	0.94
18	180342	A	C	18	180342	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.951126782124494	0.678
18	180342	A	G	18	180342	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0213345032369032	0.194
18	180342	A	T	18	180342	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.967121919210295	0.64
18	180343	A	C	18	180343	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.031784829732404	0.4
18	180343	A	G	18	180343	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.045820195179304	0.42
18	180343	A	T	18	180343	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.045758176747481	0.404
18	180344	G	A	18	180344	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.453209375466967	0.418
18	180344	G	C	18	180344	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.354707352020763	0.448
18	180344	G	T	18	180344	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.181649978548127	0.434
18	180345	A	C	18	180345	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.58152370491962E-5	0.012
18	180345	A	G	18	180345	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.18123103824664E-6	0.004
18	180345	A	T	18	180345	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.13152715042624E-5	0.01
18	180346	C	A	18	180346	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.21557472225283E-5	0.0
18	180346	C	G	18	180346	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.57530626779289E-5	0.0
18	180346	C	T	18	180346	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.57530626779289E-5	0.0
18	180347	T	A	18	180347	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.88901258699267E-5	0.0
18	180347	T	C	18	180347	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.48893788513386E-5	0.0
18	180347	T	G	18	180347	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.8118560016452E-5	0.002
18	192830	T	A	18	192830	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.16060778630533	0.412
18	192830	T	C	18	192830	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.30062940551217E-4	0.004
18	192830	T	G	18	192830	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00522111646520572	0.152
18	192831	A	C	18	192831	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.39510128558937E-5	0.0
18	192831	A	G	18	192831	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.7302117764068E-5	0.002
18	192831	A	T	18	192831	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.12928041806144E-4	0.1
18	192832	A	C	18	192832	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.91683211707006E-5	0.0
18	192832	A	G	18	192832	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.767343356239414	0.936
18	192832	A	T	18	192832	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.0291873933743E-5	0.0
18	192833	T	A	18	192833	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999456946804791	0.916
18	192833	T	C	18	192833	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.14912070745297E-5	0.0
18	192833	T	G	18	192833	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.998721673468793	0.924
18	192834	G	A	18	192834	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.66313687572587E-5	0.0
18	192834	G	C	18	192834	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.0241639572211E-5	0.0
18	192834	G	T	18	192834	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.91208682120426E-5	0.0
18	192835	T	A	18	192835	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.718884241566502	0.522
18	192835	T	C	18	192835	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00427771004913366	0.158
18	192835	T	G	18	192835	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.726603398612981	0.52
18	192836	T	A	18	192836	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0104844760032141	0.196
18	192836	T	C	18	192836	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.00938723601789E-5	0.022
18	192836	T	G	18	192836	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00403472556991583	0.22
18	192837	C	A	18	192837	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00224606838132807	0.126
18	192837	C	G	18	192837	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00224606838132807	0.148
18	192837	C	T	18	192837	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.16750944307652E-4	0.048
18	192838	C	A	18	192838	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.30307354018633E-5	0.0
18	192838	C	G	18	192838	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.80213959452597E-4	0.008
18	192838	C	T	18	192838	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.49128538294047E-5	0.0
18	192839	T	A	18	192839	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.81225960339255E-4	0.154
18	192839	T	C	18	192839	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.4850923333492E-5	0.006
18	192839	T	G	18	192839	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.855326449944141	0.694
18	192840	A	C	18	192840	y	y	splicing	USP14(NM_005151:exon6:c.405-2A>C;NM_001037334:exon5:c.300-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.300-2A>C;ENST00000400266:exon5:c.372-2A>C;ENST00000383589:exon4:c.267-2A>C;ENST00000261601:exon6:c.405-2A>C)	.	.	0.99994568797423	0.944
18	192840	A	G	18	192840	y	y	splicing	USP14(NM_005151:exon6:c.405-2A>G;NM_001037334:exon5:c.300-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.300-2A>G;ENST00000400266:exon5:c.372-2A>G;ENST00000383589:exon4:c.267-2A>G;ENST00000261601:exon6:c.405-2A>G)	.	.	0.99994568797423	0.944
18	192840	A	T	18	192840	y	y	splicing	USP14(NM_005151:exon6:c.405-2A>T;NM_001037334:exon5:c.300-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.300-2A>T;ENST00000400266:exon5:c.372-2A>T;ENST00000383589:exon4:c.267-2A>T;ENST00000261601:exon6:c.405-2A>T)	.	.	0.99994568797423	0.934
18	192841	G	A	18	192841	y	y	splicing	USP14(NM_005151:exon6:c.405-1G>A;NM_001037334:exon5:c.300-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.300-1G>A;ENST00000400266:exon5:c.372-1G>A;ENST00000383589:exon4:c.267-1G>A;ENST00000261601:exon6:c.405-1G>A)	.	.	0.99995545544995	0.926
18	192841	G	C	18	192841	y	y	splicing	USP14(NM_005151:exon6:c.405-1G>C;NM_001037334:exon5:c.300-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.300-1G>C;ENST00000400266:exon5:c.372-1G>C;ENST00000383589:exon4:c.267-1G>C;ENST00000261601:exon6:c.405-1G>C)	.	.	0.99995545544995	0.944
18	192841	G	T	18	192841	y	y	splicing	USP14(NM_005151:exon6:c.405-1G>T;NM_001037334:exon5:c.300-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.300-1G>T;ENST00000400266:exon5:c.372-1G>T;ENST00000383589:exon4:c.267-1G>T;ENST00000261601:exon6:c.405-1G>T)	.	.	0.99995545544995	0.934
18	192842	G	A	18	192842	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon5:c.G300A:p.R100R;USP14:NM_005151:exon6:c.G405A:p.R135R;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.G405A:p.R135R;ENSG00000101557:ENST00000582707:exon5:c.G300A:p.R100R;ENSG00000101557:ENST00000400266:exon5:c.G372A:p.R124R;ENSG00000101557:ENST00000383589:exon4:c.G267A:p.R89R;	0.944003957460654	0.62
18	192842	G	C	18	192842	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.G300C:p.R100S;USP14:NM_005151:exon6:c.G405C:p.R135S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.G405C:p.R135S;ENSG00000101557:ENST00000582707:exon5:c.G300C:p.R100S;ENSG00000101557:ENST00000400266:exon5:c.G372C:p.R124S;ENSG00000101557:ENST00000383589:exon4:c.G267C:p.R89S;	0.999531721167516	0.686
18	192842	G	T	18	192842	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.G300T:p.R100S;USP14:NM_005151:exon6:c.G405T:p.R135S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.G405T:p.R135S;ENSG00000101557:ENST00000582707:exon5:c.G300T:p.R100S;ENSG00000101557:ENST00000400266:exon5:c.G372T:p.R124S;ENSG00000101557:ENST00000383589:exon4:c.G267T:p.R89S;	0.999208265190618	0.716
18	192843	T	A	18	192843	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.T301A:p.Y101N;USP14:NM_005151:exon6:c.T406A:p.Y136N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.T406A:p.Y136N;ENSG00000101557:ENST00000582707:exon5:c.T301A:p.Y101N;ENSG00000101557:ENST00000400266:exon5:c.T373A:p.Y125N;ENSG00000101557:ENST00000383589:exon4:c.T268A:p.Y90N;	0.744001220667148	0.558
18	192843	T	C	18	192843	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.T301C:p.Y101H;USP14:NM_005151:exon6:c.T406C:p.Y136H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.T406C:p.Y136H;ENSG00000101557:ENST00000582707:exon5:c.T301C:p.Y101H;ENSG00000101557:ENST00000400266:exon5:c.T373C:p.Y125H;ENSG00000101557:ENST00000383589:exon4:c.T268C:p.Y90H;	0.609495331342671	0.5
18	192843	T	G	18	192843	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.T301G:p.Y101D;USP14:NM_005151:exon6:c.T406G:p.Y136D;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.T406G:p.Y136D;ENSG00000101557:ENST00000582707:exon5:c.T301G:p.Y101D;ENSG00000101557:ENST00000400266:exon5:c.T373G:p.Y125D;ENSG00000101557:ENST00000383589:exon4:c.T268G:p.Y90D;	0.814453040306745	0.532
18	192898	C	A	18	192898	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.C356A:p.A119E;USP14:NM_005151:exon6:c.C461A:p.A154E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.C461A:p.A154E;ENSG00000101557:ENST00000582707:exon5:c.C356A:p.A119E;ENSG00000101557:ENST00000400266:exon5:c.C428A:p.A143E;ENSG00000101557:ENST00000383589:exon4:c.C323A:p.A108E;	0.923672869515602	0.784
18	192898	C	G	18	192898	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.C356G:p.A119G;USP14:NM_005151:exon6:c.C461G:p.A154G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.C461G:p.A154G;ENSG00000101557:ENST00000582707:exon5:c.C356G:p.A119G;ENSG00000101557:ENST00000400266:exon5:c.C428G:p.A143G;ENSG00000101557:ENST00000383589:exon4:c.C323G:p.A108G;	0.972053533614882	0.664
18	192898	C	T	18	192898	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.C356T:p.A119V;USP14:NM_005151:exon6:c.C461T:p.A154V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.C461T:p.A154V;ENSG00000101557:ENST00000582707:exon5:c.C356T:p.A119V;ENSG00000101557:ENST00000400266:exon5:c.C428T:p.A143V;ENSG00000101557:ENST00000383589:exon4:c.C323T:p.A108V;	0.999555736060261	0.904
18	192899	A	C	18	192899	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon5:c.A357C:p.A119A;USP14:NM_005151:exon6:c.A462C:p.A154A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.A462C:p.A154A;ENSG00000101557:ENST00000582707:exon5:c.A357C:p.A119A;ENSG00000101557:ENST00000400266:exon5:c.A429C:p.A143A;ENSG00000101557:ENST00000383589:exon4:c.A324C:p.A108A;	0.999788691706564	0.992
18	192899	A	G	18	192899	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon5:c.A357G:p.A119A;USP14:NM_005151:exon6:c.A462G:p.A154A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.A462G:p.A154A;ENSG00000101557:ENST00000582707:exon5:c.A357G:p.A119A;ENSG00000101557:ENST00000400266:exon5:c.A429G:p.A143A;ENSG00000101557:ENST00000383589:exon4:c.A324G:p.A108A;	0.99938508712995	0.976
18	192899	A	T	18	192899	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon5:c.A357T:p.A119A;USP14:NM_005151:exon6:c.A462T:p.A154A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.A462T:p.A154A;ENSG00000101557:ENST00000582707:exon5:c.A357T:p.A119A;ENSG00000101557:ENST00000400266:exon5:c.A429T:p.A143A;ENSG00000101557:ENST00000383589:exon4:c.A324T:p.A108A;	0.999709648155392	1.0
18	192900	G	A	18	192900	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.G358A:p.A120T;USP14:NM_005151:exon6:c.G463A:p.A155T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.G463A:p.A155T;ENSG00000101557:ENST00000582707:exon5:c.G358A:p.A120T;ENSG00000101557:ENST00000400266:exon5:c.G430A:p.A144T;ENSG00000101557:ENST00000383589:exon4:c.G325A:p.A109T;	0.999995118868847	1.0
18	192900	G	C	18	192900	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.G358C:p.A120P;USP14:NM_005151:exon6:c.G463C:p.A155P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.G463C:p.A155P;ENSG00000101557:ENST00000582707:exon5:c.G358C:p.A120P;ENSG00000101557:ENST00000400266:exon5:c.G430C:p.A144P;ENSG00000101557:ENST00000383589:exon4:c.G325C:p.A109P;	0.999997610789446	1.0
18	192900	G	T	18	192900	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon5:c.G358T:p.A120S;USP14:NM_005151:exon6:c.G463T:p.A155S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon6:c.G463T:p.A155S;ENSG00000101557:ENST00000582707:exon5:c.G358T:p.A120S;ENSG00000101557:ENST00000400266:exon5:c.G430T:p.A144S;ENSG00000101557:ENST00000383589:exon4:c.G325T:p.A109S;	0.999992085169995	1.0
18	192901	G	A	18	192901	y	y	splicing	USP14(NM_005151:exon6:c.463+1G>A;NM_001037334:exon5:c.358+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.358+1G>A;ENST00000400266:exon5:c.430+1G>A;ENST00000383589:exon4:c.325+1G>A;ENST00000261601:exon6:c.463+1G>A)	.	.	0.999986675681007	0.928
18	192901	G	C	18	192901	y	y	splicing	USP14(NM_005151:exon6:c.463+1G>C;NM_001037334:exon5:c.358+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.358+1G>C;ENST00000400266:exon5:c.430+1G>C;ENST00000383589:exon4:c.325+1G>C;ENST00000261601:exon6:c.463+1G>C)	.	.	0.999976137096505	0.93
18	192901	G	T	18	192901	y	y	splicing	USP14(NM_005151:exon6:c.463+1G>T;NM_001037334:exon5:c.358+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.358+1G>T;ENST00000400266:exon5:c.430+1G>T;ENST00000383589:exon4:c.325+1G>T;ENST00000261601:exon6:c.463+1G>T)	.	.	0.999976137096505	0.93
18	192902	T	A	18	192902	y	y	splicing	USP14(NM_005151:exon6:c.463+2T>A;NM_001037334:exon5:c.358+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.358+2T>A;ENST00000400266:exon5:c.430+2T>A;ENST00000383589:exon4:c.325+2T>A;ENST00000261601:exon6:c.463+2T>A)	.	.	0.99994568797423	0.946
18	192902	T	C	18	192902	y	y	splicing	USP14(NM_005151:exon6:c.463+2T>C;NM_001037334:exon5:c.358+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.358+2T>C;ENST00000400266:exon5:c.430+2T>C;ENST00000383589:exon4:c.325+2T>C;ENST00000261601:exon6:c.463+2T>C)	.	.	0.949843525047224	0.622
18	192902	T	G	18	192902	y	y	splicing	USP14(NM_005151:exon6:c.463+2T>G;NM_001037334:exon5:c.358+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon5:c.358+2T>G;ENST00000400266:exon5:c.430+2T>G;ENST00000383589:exon4:c.325+2T>G;ENST00000261601:exon6:c.463+2T>G)	.	.	0.999946188727699	0.936
18	192903	T	A	18	192903	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.51394744149461E-4	0.042
18	192903	T	C	18	192903	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.00152155720978E-4	0.078
18	192903	T	G	18	192903	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.94595001014913E-5	0.044
18	192904	T	A	18	192904	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.74564859777972E-5	0.02
18	192904	T	C	18	192904	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.12650773005937E-5	0.008
18	192904	T	G	18	192904	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.33051038579876E-5	0.0
18	192905	G	A	18	192905	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999835025695201	0.968
18	192905	G	C	18	192905	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.9999833880009	0.982
18	192905	G	T	18	192905	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999549928631948	0.924
18	192906	T	A	18	192906	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.756530057815297	0.574
18	192906	T	C	18	192906	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.959612243968534	0.64
18	192906	T	G	18	192906	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.22096899152636	0.43
18	192907	A	C	18	192907	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00338975235856133	0.024
18	192907	A	G	18	192907	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00583071774880685	0.064
18	192907	A	T	18	192907	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00671602635028422	0.06
18	192908	T	A	18	192908	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00366712222844557	0.034
18	192908	T	C	18	192908	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00203418104734005	0.008
18	192908	T	G	18	192908	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00270331124265276	0.016
18	196625	T	A	18	196625	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0827403544944911	0.462
18	196625	T	C	18	196625	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.16900890921442E-4	0.092
18	196625	T	G	18	196625	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0530180566438141	0.44
18	196626	T	A	18	196626	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.302893128606031	0.602
18	196626	T	C	18	196626	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0021253934210591	0.272
18	196626	T	G	18	196626	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.200206953829449	0.52
18	196627	T	A	18	196627	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999949954526155	0.966
18	196627	T	C	18	196627	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00304708876776051	0.142
18	196627	T	G	18	196627	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.412792014226481	0.498
18	196628	G	A	18	196628	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.62649472225157E-4	0.052
18	196628	G	C	18	196628	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.99989531066418E-4	0.036
18	196628	G	T	18	196628	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.37037246942709E-4	0.026
18	196629	T	A	18	196629	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00751292720467418	0.212
18	196629	T	C	18	196629	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.03577607321369E-5	0.016
18	196629	T	G	18	196629	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00756362435610137	0.238
18	196630	C	A	18	196630	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.86776042598457E-4	0.05
18	196630	C	G	18	196630	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.43992826496779E-4	0.094
18	196630	C	T	18	196630	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.69985511506237E-5	0.0
18	196631	T	A	18	196631	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.928461292497312	0.68
18	196631	T	C	18	196631	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.40803780957223E-4	0.028
18	196631	T	G	18	196631	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.926546174098676	0.652
18	196632	T	A	18	196632	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.988210698134457	0.7
18	196632	T	C	18	196632	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0364404337241613	0.332
18	196632	T	G	18	196632	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.967790520657786	0.678
18	196633	T	A	18	196633	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00199630121531532	0.026
18	196633	T	C	18	196633	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0021868851703958	0.1
18	196633	T	G	18	196633	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00307524224258264	0.102
18	196634	A	C	18	196634	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.8352831987724E-4	0.138
18	196634	A	G	18	196634	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.213411170030436	0.336
18	196634	A	T	18	196634	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.10953725681841E-4	0.01
18	196635	A	C	18	196635	y	y	splicing	USP14(NM_005151:exon7:c.464-2A>C;NM_001037334:exon6:c.359-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.359-2A>C;ENST00000400266:exon6:c.431-2A>C;ENST00000383589:exon5:c.326-2A>C;ENST00000261601:exon7:c.464-2A>C;ENST00000583119:exon4:c.303-2A>C)	.	.	0.999976819213412	0.872
18	196635	A	G	18	196635	y	y	splicing	USP14(NM_005151:exon7:c.464-2A>G;NM_001037334:exon6:c.359-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.359-2A>G;ENST00000400266:exon6:c.431-2A>G;ENST00000383589:exon5:c.326-2A>G;ENST00000261601:exon7:c.464-2A>G;ENST00000583119:exon4:c.303-2A>G)	.	.	0.999976819213412	0.872
18	196635	A	T	18	196635	y	y	splicing	USP14(NM_005151:exon7:c.464-2A>T;NM_001037334:exon6:c.359-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.359-2A>T;ENST00000400266:exon6:c.431-2A>T;ENST00000383589:exon5:c.326-2A>T;ENST00000261601:exon7:c.464-2A>T;ENST00000583119:exon4:c.303-2A>T)	.	.	0.999976121906844	0.894
18	196636	G	A	18	196636	y	y	splicing	USP14(NM_005151:exon7:c.464-1G>A;NM_001037334:exon6:c.359-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.359-1G>A;ENST00000400266:exon6:c.431-1G>A;ENST00000383589:exon5:c.326-1G>A;ENST00000261601:exon7:c.464-1G>A;ENST00000583119:exon4:c.303-1G>A)	.	.	0.999966279126327	0.888
18	196636	G	C	18	196636	y	y	splicing	USP14(NM_005151:exon7:c.464-1G>C;NM_001037334:exon6:c.359-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.359-1G>C;ENST00000400266:exon6:c.431-1G>C;ENST00000383589:exon5:c.326-1G>C;ENST00000261601:exon7:c.464-1G>C;ENST00000583119:exon4:c.303-1G>C)	.	.	0.999979868107287	0.898
18	196636	G	T	18	196636	y	y	splicing	USP14(NM_005151:exon7:c.464-1G>T;NM_001037334:exon6:c.359-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.359-1G>T;ENST00000400266:exon6:c.431-1G>T;ENST00000383589:exon5:c.326-1G>T;ENST00000261601:exon7:c.464-1G>T;ENST00000583119:exon4:c.303-1G>T)	.	.	0.999979868107287	0.898
18	196637	C	A	18	196637	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.C359A:p.A120D;USP14:NM_005151:exon7:c.C464A:p.A155D;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.C464A:p.A155D;ENSG00000101557:ENST00000582707:exon6:c.C359A:p.A120D;ENSG00000101557:ENST00000400266:exon6:c.C431A:p.A144D;ENSG00000101557:ENST00000383589:exon5:c.C326A:p.A109D;	0.963835087721004	0.776
18	196637	C	G	18	196637	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.C359G:p.A120G;USP14:NM_005151:exon7:c.C464G:p.A155G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.C464G:p.A155G;ENSG00000101557:ENST00000582707:exon6:c.C359G:p.A120G;ENSG00000101557:ENST00000400266:exon6:c.C431G:p.A144G;ENSG00000101557:ENST00000383589:exon5:c.C326G:p.A109G;	0.00616285749319449	0.126
18	196637	C	T	18	196637	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.C359T:p.A120V;USP14:NM_005151:exon7:c.C464T:p.A155V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.C464T:p.A155V;ENSG00000101557:ENST00000582707:exon6:c.C359T:p.A120V;ENSG00000101557:ENST00000400266:exon6:c.C431T:p.A144V;ENSG00000101557:ENST00000383589:exon5:c.C326T:p.A109V;	0.995432965428361	0.848
18	196638	C	A	18	196638	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon6:c.C360A:p.A120A;USP14:NM_005151:exon7:c.C465A:p.A155A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.C465A:p.A155A;ENSG00000101557:ENST00000582707:exon6:c.C360A:p.A120A;ENSG00000101557:ENST00000400266:exon6:c.C432A:p.A144A;ENSG00000101557:ENST00000383589:exon5:c.C327A:p.A109A;	3.96710050382727E-4	0.004
18	196638	C	G	18	196638	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon6:c.C360G:p.A120A;USP14:NM_005151:exon7:c.C465G:p.A155A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.C465G:p.A155A;ENSG00000101557:ENST00000582707:exon6:c.C360G:p.A120A;ENSG00000101557:ENST00000400266:exon6:c.C432G:p.A144A;ENSG00000101557:ENST00000383589:exon5:c.C327G:p.A109A;	2.35819855897448E-4	0.01
18	196638	C	T	18	196638	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon6:c.C360T:p.A120A;USP14:NM_005151:exon7:c.C465T:p.A155A;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.C465T:p.A155A;ENSG00000101557:ENST00000582707:exon6:c.C360T:p.A120A;ENSG00000101557:ENST00000400266:exon6:c.C432T:p.A144A;ENSG00000101557:ENST00000383589:exon5:c.C327T:p.A109A;	5.54035721251228E-4	0.028
18	196765	C	A	18	196765	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.C487A:p.Q163K;USP14:NM_005151:exon7:c.C592A:p.Q198K;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.C592A:p.Q198K;ENSG00000101557:ENST00000582707:exon6:c.C487A:p.Q163K;ENSG00000101557:ENST00000400266:exon6:c.C559A:p.Q187K;ENSG00000101557:ENST00000383589:exon5:c.C454A:p.Q152K;	0.963785478077622	0.838
18	196765	C	G	18	196765	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.C487G:p.Q163E;USP14:NM_005151:exon7:c.C592G:p.Q198E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.C592G:p.Q198E;ENSG00000101557:ENST00000582707:exon6:c.C487G:p.Q163E;ENSG00000101557:ENST00000400266:exon6:c.C559G:p.Q187E;ENSG00000101557:ENST00000383589:exon5:c.C454G:p.Q152E;	0.92160587790809	0.63
18	196765	C	T	18	196765	y	y	exonic	USP14	stopgain SNV	USP14:NM_001037334:exon6:c.C487T:p.Q163X;USP14:NM_005151:exon7:c.C592T:p.Q198X;	exonic	ENSG00000101557	stopgain SNV	ENSG00000101557:ENST00000261601:exon7:c.C592T:p.Q198X;ENSG00000101557:ENST00000582707:exon6:c.C487T:p.Q163X;ENSG00000101557:ENST00000400266:exon6:c.C559T:p.Q187X;ENSG00000101557:ENST00000383589:exon5:c.C454T:p.Q152X;	0.998925555761618	0.89
18	196766	A	C	18	196766	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.A488C:p.Q163P;USP14:NM_005151:exon7:c.A593C:p.Q198P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.A593C:p.Q198P;ENSG00000101557:ENST00000582707:exon6:c.A488C:p.Q163P;ENSG00000101557:ENST00000400266:exon6:c.A560C:p.Q187P;ENSG00000101557:ENST00000383589:exon5:c.A455C:p.Q152P;	0.997957399134018	0.938
18	196766	A	G	18	196766	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.A488G:p.Q163R;USP14:NM_005151:exon7:c.A593G:p.Q198R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.A593G:p.Q198R;ENSG00000101557:ENST00000582707:exon6:c.A488G:p.Q163R;ENSG00000101557:ENST00000400266:exon6:c.A560G:p.Q187R;ENSG00000101557:ENST00000383589:exon5:c.A455G:p.Q152R;	0.998732459555276	0.938
18	196766	A	T	18	196766	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.A488T:p.Q163L;USP14:NM_005151:exon7:c.A593T:p.Q198L;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.A593T:p.Q198L;ENSG00000101557:ENST00000582707:exon6:c.A488T:p.Q163L;ENSG00000101557:ENST00000400266:exon6:c.A560T:p.Q187L;ENSG00000101557:ENST00000383589:exon5:c.A455T:p.Q152L;	0.999797647242067	0.974
18	196767	G	A	18	196767	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon6:c.G489A:p.Q163Q;USP14:NM_005151:exon7:c.G594A:p.Q198Q;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.G594A:p.Q198Q;ENSG00000101557:ENST00000582707:exon6:c.G489A:p.Q163Q;ENSG00000101557:ENST00000400266:exon6:c.G561A:p.Q187Q;ENSG00000101557:ENST00000383589:exon5:c.G456A:p.Q152Q;	0.999920821336662	0.996
18	196767	G	C	18	196767	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.G489C:p.Q163H;USP14:NM_005151:exon7:c.G594C:p.Q198H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.G594C:p.Q198H;ENSG00000101557:ENST00000582707:exon6:c.G489C:p.Q163H;ENSG00000101557:ENST00000400266:exon6:c.G561C:p.Q187H;ENSG00000101557:ENST00000383589:exon5:c.G456C:p.Q152H;	0.999996841290077	0.998
18	196767	G	T	18	196767	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon6:c.G489T:p.Q163H;USP14:NM_005151:exon7:c.G594T:p.Q198H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon7:c.G594T:p.Q198H;ENSG00000101557:ENST00000582707:exon6:c.G489T:p.Q163H;ENSG00000101557:ENST00000400266:exon6:c.G561T:p.Q187H;ENSG00000101557:ENST00000383589:exon5:c.G456T:p.Q152H;	0.999978079702089	0.99
18	196768	G	A	18	196768	y	y	splicing	USP14(NM_005151:exon7:c.594+1G>A;NM_001037334:exon6:c.489+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.489+1G>A;ENST00000400266:exon6:c.561+1G>A;ENST00000383589:exon5:c.456+1G>A;ENST00000261601:exon7:c.594+1G>A;ENST00000583119:exon4:c.433+1G>A)	.	.	0.999989072007339	0.928
18	196768	G	C	18	196768	y	y	splicing	USP14(NM_005151:exon7:c.594+1G>C;NM_001037334:exon6:c.489+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.489+1G>C;ENST00000400266:exon6:c.561+1G>C;ENST00000383589:exon5:c.456+1G>C;ENST00000261601:exon7:c.594+1G>C;ENST00000583119:exon4:c.433+1G>C)	.	.	0.999989072007339	0.928
18	196768	G	T	18	196768	y	y	splicing	USP14(NM_005151:exon7:c.594+1G>T;NM_001037334:exon6:c.489+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.489+1G>T;ENST00000400266:exon6:c.561+1G>T;ENST00000383589:exon5:c.456+1G>T;ENST00000261601:exon7:c.594+1G>T;ENST00000583119:exon4:c.433+1G>T)	.	.	0.999989072007339	0.928
18	196769	T	A	18	196769	y	y	splicing	USP14(NM_005151:exon7:c.594+2T>A;NM_001037334:exon6:c.489+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.489+2T>A;ENST00000400266:exon6:c.561+2T>A;ENST00000383589:exon5:c.456+2T>A;ENST00000261601:exon7:c.594+2T>A;ENST00000583119:exon4:c.433+2T>A)	.	.	0.999988247793601	0.93
18	196769	T	C	18	196769	y	y	splicing	USP14(NM_005151:exon7:c.594+2T>C;NM_001037334:exon6:c.489+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.489+2T>C;ENST00000400266:exon6:c.561+2T>C;ENST00000383589:exon5:c.456+2T>C;ENST00000261601:exon7:c.594+2T>C;ENST00000583119:exon4:c.433+2T>C)	.	.	0.988438135943233	0.652
18	196769	T	G	18	196769	y	y	splicing	USP14(NM_005151:exon7:c.594+2T>G;NM_001037334:exon6:c.489+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon6:c.489+2T>G;ENST00000400266:exon6:c.561+2T>G;ENST00000383589:exon5:c.456+2T>G;ENST00000261601:exon7:c.594+2T>G;ENST00000583119:exon4:c.433+2T>G)	.	.	0.999988247793601	0.928
18	196770	A	C	18	196770	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999392304353805	0.926
18	196770	A	G	18	196770	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.996524343656226	0.838
18	196770	A	T	18	196770	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999588762985722	0.93
18	196771	A	C	18	196771	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.967283658593672	0.774
18	196771	A	G	18	196771	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.989555437387418	0.854
18	196771	A	T	18	196771	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.955515929455996	0.734
18	196772	T	A	18	196772	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.23326068612341E-4	0.0
18	196772	T	C	18	196772	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.78102771536873E-5	0.0
18	196772	T	G	18	196772	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.33520130764199E-5	0.04
18	196773	T	A	18	196773	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00170559468865784	0.05
18	196773	T	C	18	196773	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00814812507560644	0.034
18	196773	T	G	18	196773	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.57497394369646E-4	0.06
18	196774	A	C	18	196774	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.41322828540371E-4	0.0
18	196774	A	G	18	196774	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.03702589995086E-4	0.0
18	196774	A	T	18	196774	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.37629123844785E-4	0.034
18	196775	G	A	18	196775	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.05425346636526E-4	0.002
18	196775	G	C	18	196775	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.49293461246564E-5	0.0
18	196775	G	T	18	196775	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.05425346636526E-4	0.002
18	197604	T	A	18	197604	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0220532720317333	0.232
18	197604	T	C	18	197604	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.30011706521433E-4	0.008
18	197604	T	G	18	197604	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0109948623214889	0.284
18	197605	T	A	18	197605	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.128561495894991	0.37
18	197605	T	C	18	197605	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.51125290178565E-4	0.064
18	197605	T	G	18	197605	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.084124099529958	0.366
18	197606	T	A	18	197606	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00294186318395778	0.118
18	197606	T	C	18	197606	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.49329470994428E-5	0.002
18	197606	T	G	18	197606	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00983615627183344	0.136
18	197607	A	C	18	197607	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.08893541467395E-4	0.024
18	197607	A	G	18	197607	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.32880881212684E-4	0.008
18	197607	A	T	18	197607	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.79589548961836E-4	0.006
18	197608	C	A	18	197608	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.05717561790976E-4	0.004
18	197608	C	G	18	197608	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.980484112860699	0.988
18	197608	C	T	18	197608	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.59341296071197E-5	0.0
18	197609	A	C	18	197609	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.60152920247704E-5	0.006
18	197609	A	G	18	197609	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.03415818255323E-5	0.002
18	197609	A	T	18	197609	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.14447155382599E-4	0.0
18	197610	T	A	18	197610	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.12784387888236	0.178
18	197610	T	C	18	197610	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.82963309715032E-5	0.002
18	197610	T	G	18	197610	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.99955432159535	0.982
18	197611	T	A	18	197611	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.250188280047805	0.416
18	197611	T	C	18	197611	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.85887969242435E-5	0.004
18	197611	T	G	18	197611	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.320486897995598	0.42
18	197612	A	C	18	197612	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.2471125764616E-5	0.0
18	197612	A	G	18	197612	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.20433512685748E-5	0.002
18	197612	A	T	18	197612	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.84455825169559E-5	0.03
18	197613	C	A	18	197613	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.182670922797129	0.456
18	197613	C	G	18	197613	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.942436179288585	0.764
18	197613	C	T	18	197613	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.76801953031764E-4	0.012
18	197614	A	C	18	197614	y	y	splicing	USP14(NM_005151:exon8:c.595-2A>C;NM_001037334:exon7:c.490-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.490-2A>C;ENST00000400266:exon7:c.562-2A>C;ENST00000383589:exon6:c.457-2A>C;ENST00000261601:exon8:c.595-2A>C;ENST00000583119:exon5:c.434-2A>C)	.	.	0.999946188727699	0.946
18	197614	A	G	18	197614	y	y	splicing	USP14(NM_005151:exon8:c.595-2A>G;NM_001037334:exon7:c.490-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.490-2A>G;ENST00000400266:exon7:c.562-2A>G;ENST00000383589:exon6:c.457-2A>G;ENST00000261601:exon8:c.595-2A>G;ENST00000583119:exon5:c.434-2A>G)	.	.	0.999946188727699	0.944
18	197614	A	T	18	197614	y	y	splicing	USP14(NM_005151:exon8:c.595-2A>T;NM_001037334:exon7:c.490-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.490-2A>T;ENST00000400266:exon7:c.562-2A>T;ENST00000383589:exon6:c.457-2A>T;ENST00000261601:exon8:c.595-2A>T;ENST00000583119:exon5:c.434-2A>T)	.	.	0.99994568797423	0.946
18	197615	G	A	18	197615	y	y	splicing	USP14(NM_005151:exon8:c.595-1G>A;NM_001037334:exon7:c.490-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.490-1G>A;ENST00000400266:exon7:c.562-1G>A;ENST00000383589:exon6:c.457-1G>A;ENST00000261601:exon8:c.595-1G>A;ENST00000583119:exon5:c.434-1G>A)	.	.	0.999985532734767	0.936
18	197615	G	C	18	197615	y	y	splicing	USP14(NM_005151:exon8:c.595-1G>C;NM_001037334:exon7:c.490-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.490-1G>C;ENST00000400266:exon7:c.562-1G>C;ENST00000383589:exon6:c.457-1G>C;ENST00000261601:exon8:c.595-1G>C;ENST00000583119:exon5:c.434-1G>C)	.	.	0.999985532734767	0.936
18	197615	G	T	18	197615	y	y	splicing	USP14(NM_005151:exon8:c.595-1G>T;NM_001037334:exon7:c.490-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.490-1G>T;ENST00000400266:exon7:c.562-1G>T;ENST00000383589:exon6:c.457-1G>T;ENST00000261601:exon8:c.595-1G>T;ENST00000583119:exon5:c.434-1G>T)	.	.	0.999985532734767	0.936
18	197616	G	A	18	197616	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.G490A:p.D164N;USP14:NM_005151:exon8:c.G595A:p.D199N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.G595A:p.D199N;ENSG00000101557:ENST00000582707:exon7:c.G490A:p.D164N;ENSG00000101557:ENST00000400266:exon7:c.G562A:p.D188N;ENSG00000101557:ENST00000383589:exon6:c.G457A:p.D153N;	0.999264097835599	0.922
18	197616	G	C	18	197616	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.G490C:p.D164H;USP14:NM_005151:exon8:c.G595C:p.D199H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.G595C:p.D199H;ENSG00000101557:ENST00000582707:exon7:c.G490C:p.D164H;ENSG00000101557:ENST00000400266:exon7:c.G562C:p.D188H;ENSG00000101557:ENST00000383589:exon6:c.G457C:p.D153H;	0.99930015727097	0.958
18	197616	G	T	18	197616	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.G490T:p.D164Y;USP14:NM_005151:exon8:c.G595T:p.D199Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.G595T:p.D199Y;ENSG00000101557:ENST00000582707:exon7:c.G490T:p.D164Y;ENSG00000101557:ENST00000400266:exon7:c.G562T:p.D188Y;ENSG00000101557:ENST00000383589:exon6:c.G457T:p.D153Y;	0.999574820743837	0.992
18	197617	A	C	18	197617	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.A491C:p.D164A;USP14:NM_005151:exon8:c.A596C:p.D199A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.A596C:p.D199A;ENSG00000101557:ENST00000582707:exon7:c.A491C:p.D164A;ENSG00000101557:ENST00000400266:exon7:c.A563C:p.D188A;ENSG00000101557:ENST00000383589:exon6:c.A458C:p.D153A;	0.859845919175533	0.768
18	197617	A	G	18	197617	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.A491G:p.D164G;USP14:NM_005151:exon8:c.A596G:p.D199G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.A596G:p.D199G;ENSG00000101557:ENST00000582707:exon7:c.A491G:p.D164G;ENSG00000101557:ENST00000400266:exon7:c.A563G:p.D188G;ENSG00000101557:ENST00000383589:exon6:c.A458G:p.D153G;	0.790806889689265	0.666
18	197617	A	T	18	197617	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.A491T:p.D164V;USP14:NM_005151:exon8:c.A596T:p.D199V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.A596T:p.D199V;ENSG00000101557:ENST00000582707:exon7:c.A491T:p.D164V;ENSG00000101557:ENST00000400266:exon7:c.A563T:p.D188V;ENSG00000101557:ENST00000383589:exon6:c.A458T:p.D153V;	0.785971158215795	0.828
18	197694	G	A	18	197694	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.G568A:p.E190K;USP14:NM_005151:exon8:c.G673A:p.E225K;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.G673A:p.E225K;ENSG00000101557:ENST00000582707:exon7:c.G568A:p.E190K;ENSG00000101557:ENST00000400266:exon7:c.G640A:p.E214K;ENSG00000101557:ENST00000383589:exon6:c.G535A:p.E179K;	0.939477738037073	0.816
18	197694	G	C	18	197694	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.G568C:p.E190Q;USP14:NM_005151:exon8:c.G673C:p.E225Q;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.G673C:p.E225Q;ENSG00000101557:ENST00000582707:exon7:c.G568C:p.E190Q;ENSG00000101557:ENST00000400266:exon7:c.G640C:p.E214Q;ENSG00000101557:ENST00000383589:exon6:c.G535C:p.E179Q;	0.916611319444115	0.768
18	197694	G	T	18	197694	y	y	exonic	USP14	stopgain SNV	USP14:NM_001037334:exon7:c.G568T:p.E190X;USP14:NM_005151:exon8:c.G673T:p.E225X;	exonic	ENSG00000101557	stopgain SNV	ENSG00000101557:ENST00000261601:exon8:c.G673T:p.E225X;ENSG00000101557:ENST00000582707:exon7:c.G568T:p.E190X;ENSG00000101557:ENST00000400266:exon7:c.G640T:p.E214X;ENSG00000101557:ENST00000383589:exon6:c.G535T:p.E179X;	0.986468552599158	0.808
18	197695	A	C	18	197695	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.A569C:p.E190A;USP14:NM_005151:exon8:c.A674C:p.E225A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.A674C:p.E225A;ENSG00000101557:ENST00000582707:exon7:c.A569C:p.E190A;ENSG00000101557:ENST00000400266:exon7:c.A641C:p.E214A;ENSG00000101557:ENST00000383589:exon6:c.A536C:p.E179A;	0.9946794625487	0.836
18	197695	A	G	18	197695	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.A569G:p.E190G;USP14:NM_005151:exon8:c.A674G:p.E225G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.A674G:p.E225G;ENSG00000101557:ENST00000582707:exon7:c.A569G:p.E190G;ENSG00000101557:ENST00000400266:exon7:c.A641G:p.E214G;ENSG00000101557:ENST00000383589:exon6:c.A536G:p.E179G;	0.998801508842054	0.95
18	197695	A	T	18	197695	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.A569T:p.E190V;USP14:NM_005151:exon8:c.A674T:p.E225V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.A674T:p.E225V;ENSG00000101557:ENST00000582707:exon7:c.A569T:p.E190V;ENSG00000101557:ENST00000400266:exon7:c.A641T:p.E214V;ENSG00000101557:ENST00000383589:exon6:c.A536T:p.E179V;	0.999777338323874	0.998
18	197696	G	A	18	197696	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon7:c.G570A:p.E190E;USP14:NM_005151:exon8:c.G675A:p.E225E;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.G675A:p.E225E;ENSG00000101557:ENST00000582707:exon7:c.G570A:p.E190E;ENSG00000101557:ENST00000400266:exon7:c.G642A:p.E214E;ENSG00000101557:ENST00000383589:exon6:c.G537A:p.E179E;	0.998045681698212	0.936
18	197696	G	C	18	197696	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.G570C:p.E190D;USP14:NM_005151:exon8:c.G675C:p.E225D;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.G675C:p.E225D;ENSG00000101557:ENST00000582707:exon7:c.G570C:p.E190D;ENSG00000101557:ENST00000400266:exon7:c.G642C:p.E214D;ENSG00000101557:ENST00000383589:exon6:c.G537C:p.E179D;	0.999936572851082	0.934
18	197696	G	T	18	197696	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon7:c.G570T:p.E190D;USP14:NM_005151:exon8:c.G675T:p.E225D;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon8:c.G675T:p.E225D;ENSG00000101557:ENST00000582707:exon7:c.G570T:p.E190D;ENSG00000101557:ENST00000400266:exon7:c.G642T:p.E214D;ENSG00000101557:ENST00000383589:exon6:c.G537T:p.E179D;	0.99995191704338	0.962
18	197697	G	A	18	197697	y	y	splicing	USP14(NM_005151:exon8:c.675+1G>A;NM_001037334:exon7:c.570+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.570+1G>A;ENST00000400266:exon7:c.642+1G>A;ENST00000383589:exon6:c.537+1G>A;ENST00000261601:exon8:c.675+1G>A;ENST00000583119:exon5:c.514+1G>A)	.	.	0.999986675681007	0.932
18	197697	G	C	18	197697	y	y	splicing	USP14(NM_005151:exon8:c.675+1G>C;NM_001037334:exon7:c.570+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.570+1G>C;ENST00000400266:exon7:c.642+1G>C;ENST00000383589:exon6:c.537+1G>C;ENST00000261601:exon8:c.675+1G>C;ENST00000583119:exon5:c.514+1G>C)	.	.	0.999986675681007	0.932
18	197697	G	T	18	197697	y	y	splicing	USP14(NM_005151:exon8:c.675+1G>T;NM_001037334:exon7:c.570+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.570+1G>T;ENST00000400266:exon7:c.642+1G>T;ENST00000383589:exon6:c.537+1G>T;ENST00000261601:exon8:c.675+1G>T;ENST00000583119:exon5:c.514+1G>T)	.	.	0.999986675681007	0.932
18	197698	T	A	18	197698	y	y	splicing	USP14(NM_005151:exon8:c.675+2T>A;NM_001037334:exon7:c.570+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.570+2T>A;ENST00000400266:exon7:c.642+2T>A;ENST00000383589:exon6:c.537+2T>A;ENST00000261601:exon8:c.675+2T>A;ENST00000583119:exon5:c.514+2T>A)	.	.	0.999966203349492	0.928
18	197698	T	C	18	197698	y	y	splicing	USP14(NM_005151:exon8:c.675+2T>C;NM_001037334:exon7:c.570+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.570+2T>C;ENST00000400266:exon7:c.642+2T>C;ENST00000383589:exon6:c.537+2T>C;ENST00000261601:exon8:c.675+2T>C;ENST00000583119:exon5:c.514+2T>C)	.	.	0.958040773543533	0.63
18	197698	T	G	18	197698	y	y	splicing	USP14(NM_005151:exon8:c.675+2T>G;NM_001037334:exon7:c.570+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon7:c.570+2T>G;ENST00000400266:exon7:c.642+2T>G;ENST00000383589:exon6:c.537+2T>G;ENST00000261601:exon8:c.675+2T>G;ENST00000583119:exon5:c.514+2T>G)	.	.	0.999966203349492	0.938
18	197699	A	C	18	197699	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999699246534063	0.924
18	197699	A	G	18	197699	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.992455491457038	0.736
18	197699	A	T	18	197699	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.99988493938442	0.97
18	197700	A	C	18	197700	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.252919230157022	0.434
18	197700	A	G	18	197700	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.424629435380498	0.512
18	197700	A	T	18	197700	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.350491460432274	0.398
18	197701	T	A	18	197701	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.32441834430168E-5	0.02
18	197701	T	C	18	197701	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.56101561266259E-5	0.002
18	197701	T	G	18	197701	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.29691611707439E-4	0.084
18	197702	T	A	18	197702	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0279206778208026	0.126
18	197702	T	C	18	197702	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0668906883021699	0.226
18	197702	T	G	18	197702	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00128748323783889	0.116
18	197703	G	A	18	197703	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.67773749774012E-5	0.016
18	197703	G	C	18	197703	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.67773749774012E-5	0.024
18	197703	G	T	18	197703	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.26615980686814E-4	0.032
18	197704	A	C	18	197704	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.44039151744794E-4	0.014
18	197704	A	G	18	197704	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.30129307249837E-4	0.01
18	197704	A	T	18	197704	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.05963990328244E-4	0.036
18	198035	T	A	18	198035	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.022728824410242	0.356
18	198035	T	C	18	198035	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.361305299928E-5	0.0
18	198035	T	G	18	198035	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00114175941445955	0.174
18	198036	A	C	18	198036	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.0187595826178E-5	0.014
18	198036	A	G	18	198036	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.62350742647937E-6	0.016
18	198036	A	T	18	198036	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.95753860911548E-5	0.094
18	198037	A	C	18	198037	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.15595422035659E-5	0.0
18	198037	A	G	18	198037	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.678721187122069	0.884
18	198037	A	T	18	198037	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.35889547817731E-5	0.0
18	198038	T	A	18	198038	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0332753390819167	0.264
18	198038	T	C	18	198038	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.11479513175265E-4	0.006
18	198038	T	G	18	198038	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999763924190672	0.894
18	198039	T	A	18	198039	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0093472439307813	0.204
18	198039	T	C	18	198039	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.38764663578274E-5	0.012
18	198039	T	G	18	198039	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00394330121508284	0.24
18	198040	T	A	18	198040	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.458143928789782	0.294
18	198040	T	C	18	198040	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.94627236061796E-4	0.062
18	198040	T	G	18	198040	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.642779926660063	0.298
18	198041	T	A	18	198041	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.137164165030324	0.276
18	198041	T	C	18	198041	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.71104817680339E-5	0.044
18	198041	T	G	18	198041	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0462503848510923	0.292
18	198042	T	A	18	198042	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999906192213583	0.894
18	198042	T	C	18	198042	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00182109540327609	0.05
18	198042	T	G	18	198042	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.44288351396193	0.368
18	198043	G	A	18	198043	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.04451874963338E-5	0.006
18	198043	G	C	18	198043	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.39662577690287E-5	0.002
18	198043	G	T	18	198043	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.50715456034616E-5	0.01
18	198044	C	A	18	198044	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.987678005623052	0.694
18	198044	C	G	18	198044	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999783298732349	0.908
18	198044	C	T	18	198044	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0174362225862517	0.212
18	198045	A	C	18	198045	y	y	splicing	USP14(NM_005151:exon9:c.676-2A>C;NM_001037334:exon8:c.571-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.571-2A>C;ENST00000400266:exon8:c.643-2A>C;ENST00000383589:exon7:c.538-2A>C;ENST00000261601:exon9:c.676-2A>C;ENST00000583119:exon6:c.515-2A>C)	.	.	0.999971317418422	0.894
18	198045	A	G	18	198045	y	y	splicing	USP14(NM_005151:exon9:c.676-2A>G;NM_001037334:exon8:c.571-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.571-2A>G;ENST00000400266:exon8:c.643-2A>G;ENST00000383589:exon7:c.538-2A>G;ENST00000261601:exon9:c.676-2A>G;ENST00000583119:exon6:c.515-2A>G)	.	.	0.999971317418422	0.892
18	198045	A	T	18	198045	y	y	splicing	USP14(NM_005151:exon9:c.676-2A>T;NM_001037334:exon8:c.571-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.571-2A>T;ENST00000400266:exon8:c.643-2A>T;ENST00000383589:exon7:c.538-2A>T;ENST00000261601:exon9:c.676-2A>T;ENST00000583119:exon6:c.515-2A>T)	.	.	0.999971317418422	0.898
18	198046	G	A	18	198046	y	y	splicing	USP14(NM_005151:exon9:c.676-1G>A;NM_001037334:exon8:c.571-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.571-1G>A;ENST00000400266:exon8:c.643-1G>A;ENST00000383589:exon7:c.538-1G>A;ENST00000261601:exon9:c.676-1G>A;ENST00000583119:exon6:c.515-1G>A)	.	.	0.999952286258862	0.85
18	198046	G	C	18	198046	y	y	splicing	USP14(NM_005151:exon9:c.676-1G>C;NM_001037334:exon8:c.571-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.571-1G>C;ENST00000400266:exon8:c.643-1G>C;ENST00000383589:exon7:c.538-1G>C;ENST00000261601:exon9:c.676-1G>C;ENST00000583119:exon6:c.515-1G>C)	.	.	0.999942513266374	0.85
18	198046	G	T	18	198046	y	y	splicing	USP14(NM_005151:exon9:c.676-1G>T;NM_001037334:exon8:c.571-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.571-1G>T;ENST00000400266:exon8:c.643-1G>T;ENST00000383589:exon7:c.538-1G>T;ENST00000261601:exon9:c.676-1G>T;ENST00000583119:exon6:c.515-1G>T)	.	.	0.999952286258862	0.854
18	198047	A	C	18	198047	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.A571C:p.T191P;USP14:NM_005151:exon9:c.A676C:p.T226P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.A676C:p.T226P;ENSG00000101557:ENST00000582707:exon8:c.A571C:p.T191P;ENSG00000101557:ENST00000400266:exon8:c.A643C:p.T215P;ENSG00000101557:ENST00000383589:exon7:c.A538C:p.T180P;	0.0521965835327837	0.2
18	198047	A	G	18	198047	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.A571G:p.T191A;USP14:NM_005151:exon9:c.A676G:p.T226A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.A676G:p.T226A;ENSG00000101557:ENST00000582707:exon8:c.A571G:p.T191A;ENSG00000101557:ENST00000400266:exon8:c.A643G:p.T215A;ENSG00000101557:ENST00000383589:exon7:c.A538G:p.T180A;	6.71993465926249E-4	0.05
18	198047	A	T	18	198047	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.A571T:p.T191S;USP14:NM_005151:exon9:c.A676T:p.T226S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.A676T:p.T226S;ENSG00000101557:ENST00000582707:exon8:c.A571T:p.T191S;ENSG00000101557:ENST00000400266:exon8:c.A643T:p.T215S;ENSG00000101557:ENST00000383589:exon7:c.A538T:p.T180S;	0.0710540851252305	0.154
18	198048	C	A	18	198048	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.C572A:p.T191K;USP14:NM_005151:exon9:c.C677A:p.T226K;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.C677A:p.T226K;ENSG00000101557:ENST00000582707:exon8:c.C572A:p.T191K;ENSG00000101557:ENST00000400266:exon8:c.C644A:p.T215K;ENSG00000101557:ENST00000383589:exon7:c.C539A:p.T180K;	0.994131053378897	0.822
18	198048	C	G	18	198048	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.C572G:p.T191R;USP14:NM_005151:exon9:c.C677G:p.T226R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.C677G:p.T226R;ENSG00000101557:ENST00000582707:exon8:c.C572G:p.T191R;ENSG00000101557:ENST00000400266:exon8:c.C644G:p.T215R;ENSG00000101557:ENST00000383589:exon7:c.C539G:p.T180R;	0.984098133735663	0.688
18	198048	C	T	18	198048	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.C572T:p.T191I;USP14:NM_005151:exon9:c.C677T:p.T226I;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.C677T:p.T226I;ENSG00000101557:ENST00000582707:exon8:c.C572T:p.T191I;ENSG00000101557:ENST00000400266:exon8:c.C644T:p.T215I;ENSG00000101557:ENST00000383589:exon7:c.C539T:p.T180I;	0.977444842164862	0.768
18	198130	T	A	18	198130	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon8:c.T654A:p.T218T;USP14:NM_005151:exon9:c.T759A:p.T253T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.T759A:p.T253T;ENSG00000101557:ENST00000582707:exon8:c.T654A:p.T218T;ENSG00000101557:ENST00000400266:exon8:c.T726A:p.T242T;ENSG00000101557:ENST00000383589:exon7:c.T621A:p.T207T;	9.24017658501359E-5	.
18	198130	T	C	18	198130	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon8:c.T654C:p.T218T;USP14:NM_005151:exon9:c.T759C:p.T253T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.T759C:p.T253T;ENSG00000101557:ENST00000582707:exon8:c.T654C:p.T218T;ENSG00000101557:ENST00000400266:exon8:c.T726C:p.T242T;ENSG00000101557:ENST00000383589:exon7:c.T621C:p.T207T;	9.09254220315825E-5	.
18	198130	T	G	18	198130	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon8:c.T654G:p.T218T;USP14:NM_005151:exon9:c.T759G:p.T253T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.T759G:p.T253T;ENSG00000101557:ENST00000582707:exon8:c.T654G:p.T218T;ENSG00000101557:ENST00000400266:exon8:c.T726G:p.T242T;ENSG00000101557:ENST00000383589:exon7:c.T621G:p.T207T;	6.13077920550017E-5	.
18	198131	A	C	18	198131	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.A655C:p.T219P;USP14:NM_005151:exon9:c.A760C:p.T254P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.A760C:p.T254P;ENSG00000101557:ENST00000582707:exon8:c.A655C:p.T219P;ENSG00000101557:ENST00000400266:exon8:c.A727C:p.T243P;ENSG00000101557:ENST00000383589:exon7:c.A622C:p.T208P;	0.999563219407606	.
18	198131	A	G	18	198131	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.A655G:p.T219A;USP14:NM_005151:exon9:c.A760G:p.T254A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.A760G:p.T254A;ENSG00000101557:ENST00000582707:exon8:c.A655G:p.T219A;ENSG00000101557:ENST00000400266:exon8:c.A727G:p.T243A;ENSG00000101557:ENST00000383589:exon7:c.A622G:p.T208A;	0.996061988945869	.
18	198131	A	T	18	198131	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.A655T:p.T219S;USP14:NM_005151:exon9:c.A760T:p.T254S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.A760T:p.T254S;ENSG00000101557:ENST00000582707:exon8:c.A655T:p.T219S;ENSG00000101557:ENST00000400266:exon8:c.A727T:p.T243S;ENSG00000101557:ENST00000383589:exon7:c.A622T:p.T208S;	0.999335977460758	.
18	198132	C	A	18	198132	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.C656A:p.T219N;USP14:NM_005151:exon9:c.C761A:p.T254N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.C761A:p.T254N;ENSG00000101557:ENST00000582707:exon8:c.C656A:p.T219N;ENSG00000101557:ENST00000400266:exon8:c.C728A:p.T243N;ENSG00000101557:ENST00000383589:exon7:c.C623A:p.T208N;	0.32242672578051	.
18	198132	C	G	18	198132	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.C656G:p.T219S;USP14:NM_005151:exon9:c.C761G:p.T254S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.C761G:p.T254S;ENSG00000101557:ENST00000582707:exon8:c.C656G:p.T219S;ENSG00000101557:ENST00000400266:exon8:c.C728G:p.T243S;ENSG00000101557:ENST00000383589:exon7:c.C623G:p.T208S;	0.0019576126626525	.
18	198132	C	T	18	198132	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon8:c.C656T:p.T219I;USP14:NM_005151:exon9:c.C761T:p.T254I;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon9:c.C761T:p.T254I;ENSG00000101557:ENST00000582707:exon8:c.C656T:p.T219I;ENSG00000101557:ENST00000400266:exon8:c.C728T:p.T243I;ENSG00000101557:ENST00000383589:exon7:c.C623T:p.T208I;	0.894139712916622	.
18	198133	G	A	18	198133	y	y	splicing	USP14(NM_005151:exon9:c.761+1G>A;NM_001037334:exon8:c.656+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.656+1G>A;ENST00000400266:exon8:c.728+1G>A;ENST00000383589:exon7:c.623+1G>A;ENST00000261601:exon9:c.761+1G>A)	.	.	0.99997610826971	.
18	198133	G	C	18	198133	y	y	splicing	USP14(NM_005151:exon9:c.761+1G>C;NM_001037334:exon8:c.656+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.656+1G>C;ENST00000400266:exon8:c.728+1G>C;ENST00000383589:exon7:c.623+1G>C;ENST00000261601:exon9:c.761+1G>C)	.	.	0.999981508795894	.
18	198133	G	T	18	198133	y	y	splicing	USP14(NM_005151:exon9:c.761+1G>T;NM_001037334:exon8:c.656+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.656+1G>T;ENST00000400266:exon8:c.728+1G>T;ENST00000383589:exon7:c.623+1G>T;ENST00000261601:exon9:c.761+1G>T)	.	.	0.999981508795894	.
18	198134	T	A	18	198134	y	y	splicing	USP14(NM_005151:exon9:c.761+2T>A;NM_001037334:exon8:c.656+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.656+2T>A;ENST00000400266:exon8:c.728+2T>A;ENST00000383589:exon7:c.623+2T>A;ENST00000261601:exon9:c.761+2T>A)	.	.	0.999933834912627	.
18	198134	T	C	18	198134	y	y	splicing	USP14(NM_005151:exon9:c.761+2T>C;NM_001037334:exon8:c.656+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.656+2T>C;ENST00000400266:exon8:c.728+2T>C;ENST00000383589:exon7:c.623+2T>C;ENST00000261601:exon9:c.761+2T>C)	.	.	0.974893376109894	.
18	198134	T	G	18	198134	y	y	splicing	USP14(NM_005151:exon9:c.761+2T>G;NM_001037334:exon8:c.656+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon8:c.656+2T>G;ENST00000400266:exon8:c.728+2T>G;ENST00000383589:exon7:c.623+2T>G;ENST00000261601:exon9:c.761+2T>G)	.	.	0.999933834912627	.
18	198135	A	C	18	198135	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999899107078222	.
18	198135	A	G	18	198135	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.995501504972768	.
18	198135	A	T	18	198135	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999899107078222	.
18	198136	T	A	18	198136	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00859664010750916	.
18	198136	T	C	18	198136	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.226151941431991	.
18	198136	T	G	18	198136	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0136298054090226	.
18	198137	C	A	18	198137	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00534907146850695	.
18	198137	C	G	18	198137	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00105513371671931	.
18	198137	C	T	18	198137	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0441907538819213	.
18	198138	C	A	18	198138	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00608912644719847	.
18	198138	C	G	18	198138	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00583751533998277	.
18	198138	C	T	18	198138	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00298556264182739	.
18	198139	T	A	18	198139	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00722521565241044	.
18	198139	T	C	18	198139	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00199336249279816	.
18	198139	T	G	18	198139	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00199336249279816	.
18	198140	T	A	18	198140	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00258588535742149	.
18	198140	T	C	18	198140	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0010207690479276	.
18	198140	T	G	18	198140	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00144038522384694	.
18	199190	T	A	18	199190	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00595768600157581	.
18	199190	T	C	18	199190	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.0630087986753E-4	.
18	199190	T	G	18	199190	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00595768600157581	.
18	199191	A	C	18	199191	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.36101171947157E-6	.
18	199191	A	G	18	199191	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.85771320032655E-6	.
18	199191	A	T	18	199191	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.51183600586234E-5	.
18	199192	G	A	18	199192	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.71716723171681E-5	.
18	199192	G	C	18	199192	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.22963649052722E-5	.
18	199192	G	T	18	199192	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.5099978416629E-5	.
18	199193	T	A	18	199193	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.111753616601332	.
18	199193	T	C	18	199193	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00237102225092248	.
18	199193	T	G	18	199193	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.111753616601332	.
18	199194	T	A	18	199194	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.312734688221512	.
18	199194	T	C	18	199194	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.65910139487364E-4	.
18	199194	T	G	18	199194	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0681355877753683	.
18	199195	T	A	18	199195	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0132848788784403	.
18	199195	T	C	18	199195	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.82647231494038E-4	.
18	199195	T	G	18	199195	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0132848788784403	.
18	199196	A	C	18	199196	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.08092762095946E-5	.
18	199196	A	G	18	199196	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.83616614132196E-5	.
18	199196	A	T	18	199196	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.62585169931695E-5	.
18	199197	C	A	18	199197	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0285500565161264	.
18	199197	C	G	18	199197	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0285500565161264	.
18	199197	C	T	18	199197	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.48941406715667E-5	.
18	199198	A	C	18	199198	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.13020780897507E-5	.
18	199198	A	G	18	199198	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.67301854191699E-5	.
18	199198	A	T	18	199198	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.7696013336233E-5	.
18	199199	A	C	18	199199	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0012182028626271	.
18	199199	A	G	18	199199	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.013756952283987	.
18	199199	A	T	18	199199	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.18133405212725E-4	.
18	199200	A	C	18	199200	y	y	splicing	USP14(NM_005151:exon10:c.762-2A>C;NM_001037334:exon9:c.657-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.657-2A>C;ENST00000400266:exon9:c.729-2A>C;ENST00000383589:exon8:c.624-2A>C;ENST00000261601:exon10:c.762-2A>C)	.	.	0.999804562691034	.
18	199200	A	G	18	199200	y	y	splicing	USP14(NM_005151:exon10:c.762-2A>G;NM_001037334:exon9:c.657-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.657-2A>G;ENST00000400266:exon9:c.729-2A>G;ENST00000383589:exon8:c.624-2A>G;ENST00000261601:exon10:c.762-2A>G)	.	.	0.999804562691034	.
18	199200	A	T	18	199200	y	y	splicing	USP14(NM_005151:exon10:c.762-2A>T;NM_001037334:exon9:c.657-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.657-2A>T;ENST00000400266:exon9:c.729-2A>T;ENST00000383589:exon8:c.624-2A>T;ENST00000261601:exon10:c.762-2A>T)	.	.	0.999633983989678	.
18	199201	G	A	18	199201	y	y	splicing	USP14(NM_005151:exon10:c.762-1G>A;NM_001037334:exon9:c.657-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.657-1G>A;ENST00000400266:exon9:c.729-1G>A;ENST00000383589:exon8:c.624-1G>A;ENST00000261601:exon10:c.762-1G>A)	.	.	0.999938187404655	.
18	199201	G	C	18	199201	y	y	splicing	USP14(NM_005151:exon10:c.762-1G>C;NM_001037334:exon9:c.657-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.657-1G>C;ENST00000400266:exon9:c.729-1G>C;ENST00000383589:exon8:c.624-1G>C;ENST00000261601:exon10:c.762-1G>C)	.	.	0.999938187404655	.
18	199201	G	T	18	199201	y	y	splicing	USP14(NM_005151:exon10:c.762-1G>T;NM_001037334:exon9:c.657-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.657-1G>T;ENST00000400266:exon9:c.729-1G>T;ENST00000383589:exon8:c.624-1G>T;ENST00000261601:exon10:c.762-1G>T)	.	.	0.999938187404655	.
18	199202	C	A	18	199202	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon9:c.C657A:p.T219T;USP14:NM_005151:exon10:c.C762A:p.T254T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.C762A:p.T254T;ENSG00000101557:ENST00000582707:exon9:c.C657A:p.T219T;ENSG00000101557:ENST00000400266:exon9:c.C729A:p.T243T;ENSG00000101557:ENST00000383589:exon8:c.C624A:p.T208T;	8.60637374461237E-4	.
18	199202	C	G	18	199202	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon9:c.C657G:p.T219T;USP14:NM_005151:exon10:c.C762G:p.T254T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.C762G:p.T254T;ENSG00000101557:ENST00000582707:exon9:c.C657G:p.T219T;ENSG00000101557:ENST00000400266:exon9:c.C729G:p.T243T;ENSG00000101557:ENST00000383589:exon8:c.C624G:p.T208T;	0.00164775041340729	.
18	199202	C	T	18	199202	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon9:c.C657T:p.T219T;USP14:NM_005151:exon10:c.C762T:p.T254T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.C762T:p.T254T;ENSG00000101557:ENST00000582707:exon9:c.C657T:p.T219T;ENSG00000101557:ENST00000400266:exon9:c.C729T:p.T243T;ENSG00000101557:ENST00000383589:exon8:c.C624T:p.T208T;	0.0077234643489641	.
18	199203	A	C	18	199203	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.A658C:p.M220L;USP14:NM_005151:exon10:c.A763C:p.M255L;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.A763C:p.M255L;ENSG00000101557:ENST00000582707:exon9:c.A658C:p.M220L;ENSG00000101557:ENST00000400266:exon9:c.A730C:p.M244L;ENSG00000101557:ENST00000383589:exon8:c.A625C:p.M209L;	0.040387274742199	.
18	199203	A	G	18	199203	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.A658G:p.M220V;USP14:NM_005151:exon10:c.A763G:p.M255V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.A763G:p.M255V;ENSG00000101557:ENST00000582707:exon9:c.A658G:p.M220V;ENSG00000101557:ENST00000400266:exon9:c.A730G:p.M244V;ENSG00000101557:ENST00000383589:exon8:c.A625G:p.M209V;	0.17122142891651	.
18	199203	A	T	18	199203	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.A658T:p.M220L;USP14:NM_005151:exon10:c.A763T:p.M255L;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.A763T:p.M255L;ENSG00000101557:ENST00000582707:exon9:c.A658T:p.M220L;ENSG00000101557:ENST00000400266:exon9:c.A730T:p.M244L;ENSG00000101557:ENST00000383589:exon8:c.A625T:p.M209L;	0.00760102477694217	.
18	199314	T	A	18	199314	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.T769A:p.L257M;USP14:NM_005151:exon10:c.T874A:p.L292M;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.T874A:p.L292M;ENSG00000101557:ENST00000582707:exon9:c.T769A:p.L257M;ENSG00000101557:ENST00000400266:exon9:c.T841A:p.L281M;ENSG00000101557:ENST00000383589:exon8:c.T736A:p.L246M;	4.14745879270053E-4	0.15
18	199314	T	C	18	199314	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon9:c.T769C:p.L257L;USP14:NM_005151:exon10:c.T874C:p.L292L;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.T874C:p.L292L;ENSG00000101557:ENST00000582707:exon9:c.T769C:p.L257L;ENSG00000101557:ENST00000400266:exon9:c.T841C:p.L281L;ENSG00000101557:ENST00000383589:exon8:c.T736C:p.L246L;	3.51630564715756E-4	0.0
18	199314	T	G	18	199314	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.T769G:p.L257V;USP14:NM_005151:exon10:c.T874G:p.L292V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.T874G:p.L292V;ENSG00000101557:ENST00000582707:exon9:c.T769G:p.L257V;ENSG00000101557:ENST00000400266:exon9:c.T841G:p.L281V;ENSG00000101557:ENST00000383589:exon8:c.T736G:p.L246V;	0.00353824909431815	0.096
18	199315	T	A	18	199315	y	y	exonic	USP14	stopgain SNV	USP14:NM_001037334:exon9:c.T770A:p.L257X;USP14:NM_005151:exon10:c.T875A:p.L292X;	exonic	ENSG00000101557	stopgain SNV	ENSG00000101557:ENST00000261601:exon10:c.T875A:p.L292X;ENSG00000101557:ENST00000582707:exon9:c.T770A:p.L257X;ENSG00000101557:ENST00000400266:exon9:c.T842A:p.L281X;ENSG00000101557:ENST00000383589:exon8:c.T737A:p.L246X;	0.74558411602838	0.686
18	199315	T	C	18	199315	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.T770C:p.L257S;USP14:NM_005151:exon10:c.T875C:p.L292S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.T875C:p.L292S;ENSG00000101557:ENST00000582707:exon9:c.T770C:p.L257S;ENSG00000101557:ENST00000400266:exon9:c.T842C:p.L281S;ENSG00000101557:ENST00000383589:exon8:c.T737C:p.L246S;	0.00373335372496607	0.106
18	199315	T	G	18	199315	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.T770G:p.L257W;USP14:NM_005151:exon10:c.T875G:p.L292W;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.T875G:p.L292W;ENSG00000101557:ENST00000582707:exon9:c.T770G:p.L257W;ENSG00000101557:ENST00000400266:exon9:c.T842G:p.L281W;ENSG00000101557:ENST00000383589:exon8:c.T737G:p.L246W;	0.774213045030026	0.77
18	199316	G	A	18	199316	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon9:c.G771A:p.L257L;USP14:NM_005151:exon10:c.G876A:p.L292L;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.G876A:p.L292L;ENSG00000101557:ENST00000582707:exon9:c.G771A:p.L257L;ENSG00000101557:ENST00000400266:exon9:c.G843A:p.L281L;ENSG00000101557:ENST00000383589:exon8:c.G738A:p.L246L;	0.999919319868527	0.998
18	199316	G	C	18	199316	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.G771C:p.L257F;USP14:NM_005151:exon10:c.G876C:p.L292F;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.G876C:p.L292F;ENSG00000101557:ENST00000582707:exon9:c.G771C:p.L257F;ENSG00000101557:ENST00000400266:exon9:c.G843C:p.L281F;ENSG00000101557:ENST00000383589:exon8:c.G738C:p.L246F;	0.999996595340536	0.988
18	199316	G	T	18	199316	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon9:c.G771T:p.L257F;USP14:NM_005151:exon10:c.G876T:p.L292F;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon10:c.G876T:p.L292F;ENSG00000101557:ENST00000582707:exon9:c.G771T:p.L257F;ENSG00000101557:ENST00000400266:exon9:c.G843T:p.L281F;ENSG00000101557:ENST00000383589:exon8:c.G738T:p.L246F;	0.999960877650635	0.998
18	199317	G	A	18	199317	y	y	splicing	USP14(NM_005151:exon10:c.876+1G>A;NM_001037334:exon9:c.771+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.771+1G>A;ENST00000400266:exon9:c.843+1G>A;ENST00000383589:exon8:c.738+1G>A;ENST00000261601:exon10:c.876+1G>A)	.	.	0.999992446697775	0.936
18	199317	G	C	18	199317	y	y	splicing	USP14(NM_005151:exon10:c.876+1G>C;NM_001037334:exon9:c.771+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.771+1G>C;ENST00000400266:exon9:c.843+1G>C;ENST00000383589:exon8:c.738+1G>C;ENST00000261601:exon10:c.876+1G>C)	.	.	0.999992446697775	0.936
18	199317	G	T	18	199317	y	y	splicing	USP14(NM_005151:exon10:c.876+1G>T;NM_001037334:exon9:c.771+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.771+1G>T;ENST00000400266:exon9:c.843+1G>T;ENST00000383589:exon8:c.738+1G>T;ENST00000261601:exon10:c.876+1G>T)	.	.	0.999992446697775	0.936
18	199318	T	A	18	199318	y	y	splicing	USP14(NM_005151:exon10:c.876+2T>A;NM_001037334:exon9:c.771+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.771+2T>A;ENST00000400266:exon9:c.843+2T>A;ENST00000383589:exon8:c.738+2T>A;ENST00000261601:exon10:c.876+2T>A)	.	.	0.999993519952936	0.928
18	199318	T	C	18	199318	y	y	splicing	USP14(NM_005151:exon10:c.876+2T>C;NM_001037334:exon9:c.771+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.771+2T>C;ENST00000400266:exon9:c.843+2T>C;ENST00000383589:exon8:c.738+2T>C;ENST00000261601:exon10:c.876+2T>C)	.	.	0.999935627936562	0.866
18	199318	T	G	18	199318	y	y	splicing	USP14(NM_005151:exon10:c.876+2T>G;NM_001037334:exon9:c.771+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon9:c.771+2T>G;ENST00000400266:exon9:c.843+2T>G;ENST00000383589:exon8:c.738+2T>G;ENST00000261601:exon10:c.876+2T>G)	.	.	0.999993519952936	0.914
18	199319	A	C	18	199319	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.998965565727222	0.888
18	199319	A	G	18	199319	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.158030220488931	0.298
18	199319	A	T	18	199319	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.998816371036613	0.882
18	199320	A	C	18	199320	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.590469438081378	0.51
18	199320	A	G	18	199320	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.991865363934119	0.61
18	199320	A	T	18	199320	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.886720634385704	0.554
18	199321	G	A	18	199321	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999878603279242	0.956
18	199321	G	C	18	199321	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999879298189999	0.928
18	199321	G	T	18	199321	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999894637309197	0.872
18	199322	G	A	18	199322	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.54680957393796E-5	0.0
18	199322	G	C	18	199322	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.21358660892703E-5	0.0
18	199322	G	T	18	199322	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.08567253128812E-5	0.0
18	199323	A	C	18	199323	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.20467738660625E-4	0.012
18	199323	A	G	18	199323	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.39033187260693E-5	0.006
18	199323	A	T	18	199323	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.01234759896565E-4	0.006
18	199324	C	A	18	199324	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.00925306948278E-4	0.0
18	199324	C	G	18	199324	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.00925306948278E-4	0.0
18	199324	C	T	18	199324	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.11389651227104E-4	0.0
18	202868	G	A	18	202868	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.37698077119203E-5	0.0
18	202868	G	C	18	202868	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.34492771425871E-4	0.0
18	202868	G	T	18	202868	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.86169246549514E-4	0.0
18	202869	T	A	18	202869	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.767537564688324	0.604
18	202869	T	C	18	202869	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.61368141572069E-4	0.102
18	202869	T	G	18	202869	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.53164149554677	0.624
18	202870	T	A	18	202870	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0377415571042445	0.236
18	202870	T	C	18	202870	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.49894297427308E-4	0.046
18	202870	T	G	18	202870	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00719762887550467	0.326
18	202871	C	A	18	202871	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.64489622822573E-4	0.062
18	202871	C	G	18	202871	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.31633414032597E-4	0.098
18	202871	C	T	18	202871	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.319592314091E-5	0.008
18	202872	T	A	18	202872	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0148301096832104	0.15
18	202872	T	C	18	202872	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.9496975529328E-5	0.002
18	202872	T	G	18	202872	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.57869894505693E-4	0.164
18	202873	T	A	18	202873	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.407167021946657	0.358
18	202873	T	C	18	202873	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.97074769139235E-4	0.024
18	202873	T	G	18	202873	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.147920887825812	0.31
18	202874	T	A	18	202874	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.373234155553132	0.388
18	202874	T	C	18	202874	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.83539402179491E-5	0.012
18	202874	T	G	18	202874	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.166354055925349	0.388
18	202875	C	A	18	202875	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00318214651276665	0.086
18	202875	C	G	18	202875	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00400552232269	0.158
18	202875	C	T	18	202875	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.69635879868158E-5	0.008
18	202876	T	A	18	202876	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.27768445672416E-4	0.002
18	202876	T	C	18	202876	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.99287628557493E-4	0.01
18	202876	T	G	18	202876	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00123569322325282	0.068
18	202877	T	A	18	202877	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00174063481409449	0.176
18	202877	T	C	18	202877	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.1325129438718E-5	0.016
18	202877	T	G	18	202877	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.99477406728355	0.704
18	202878	A	C	18	202878	y	y	splicing	USP14(NM_005151:exon11:c.877-2A>C;NM_001037334:exon10:c.772-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.772-2A>C;ENST00000400266:exon10:c.844-2A>C;ENST00000383589:exon9:c.739-2A>C;ENST00000261601:exon11:c.877-2A>C)	.	.	0.999944025356209	0.86
18	202878	A	G	18	202878	y	y	splicing	USP14(NM_005151:exon11:c.877-2A>G;NM_001037334:exon10:c.772-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.772-2A>G;ENST00000400266:exon10:c.844-2A>G;ENST00000383589:exon9:c.739-2A>G;ENST00000261601:exon11:c.877-2A>G)	.	.	0.999944025356209	0.86
18	202878	A	T	18	202878	y	y	splicing	USP14(NM_005151:exon11:c.877-2A>T;NM_001037334:exon10:c.772-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.772-2A>T;ENST00000400266:exon10:c.844-2A>T;ENST00000383589:exon9:c.739-2A>T;ENST00000261601:exon11:c.877-2A>T)	.	.	0.999950607537888	0.864
18	202879	G	A	18	202879	y	y	splicing	USP14(NM_005151:exon11:c.877-1G>A;NM_001037334:exon10:c.772-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.772-1G>A;ENST00000400266:exon10:c.844-1G>A;ENST00000383589:exon9:c.739-1G>A;ENST00000261601:exon11:c.877-1G>A)	.	.	0.999989072007339	0.934
18	202879	G	C	18	202879	y	y	splicing	USP14(NM_005151:exon11:c.877-1G>C;NM_001037334:exon10:c.772-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.772-1G>C;ENST00000400266:exon10:c.844-1G>C;ENST00000383589:exon9:c.739-1G>C;ENST00000261601:exon11:c.877-1G>C)	.	.	0.999989072007339	0.934
18	202879	G	T	18	202879	y	y	splicing	USP14(NM_005151:exon11:c.877-1G>T;NM_001037334:exon10:c.772-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.772-1G>T;ENST00000400266:exon10:c.844-1G>T;ENST00000383589:exon9:c.739-1G>T;ENST00000261601:exon11:c.877-1G>T)	.	.	0.999989072007339	0.934
18	202880	C	A	18	202880	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon10:c.C772A:p.R258R;USP14:NM_005151:exon11:c.C877A:p.R293R;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.C877A:p.R293R;ENSG00000101557:ENST00000582707:exon10:c.C772A:p.R258R;ENSG00000101557:ENST00000400266:exon10:c.C844A:p.R282R;ENSG00000101557:ENST00000383589:exon9:c.C739A:p.R247R;	1.59551896709084E-5	0.0
18	202880	C	G	18	202880	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.C772G:p.R258G;USP14:NM_005151:exon11:c.C877G:p.R293G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.C877G:p.R293G;ENSG00000101557:ENST00000582707:exon10:c.C772G:p.R258G;ENSG00000101557:ENST00000400266:exon10:c.C844G:p.R282G;ENSG00000101557:ENST00000383589:exon9:c.C739G:p.R247G;	1.25995820916328E-4	0.084
18	202880	C	T	18	202880	y	y	exonic	USP14	stopgain SNV	USP14:NM_001037334:exon10:c.C772T:p.R258X;USP14:NM_005151:exon11:c.C877T:p.R293X;	exonic	ENSG00000101557	stopgain SNV	ENSG00000101557:ENST00000261601:exon11:c.C877T:p.R293X;ENSG00000101557:ENST00000582707:exon10:c.C772T:p.R258X;ENSG00000101557:ENST00000400266:exon10:c.C844T:p.R282X;ENSG00000101557:ENST00000383589:exon9:c.C739T:p.R247X;	3.85524506884732E-4	0.204
18	202881	G	A	18	202881	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.G773A:p.R258Q;USP14:NM_005151:exon11:c.G878A:p.R293Q;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.G878A:p.R293Q;ENSG00000101557:ENST00000582707:exon10:c.G773A:p.R258Q;ENSG00000101557:ENST00000400266:exon10:c.G845A:p.R282Q;ENSG00000101557:ENST00000383589:exon9:c.G740A:p.R247Q;	0.164001346275207	0.348
18	202881	G	C	18	202881	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.G773C:p.R258P;USP14:NM_005151:exon11:c.G878C:p.R293P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.G878C:p.R293P;ENSG00000101557:ENST00000582707:exon10:c.G773C:p.R258P;ENSG00000101557:ENST00000400266:exon10:c.G845C:p.R282P;ENSG00000101557:ENST00000383589:exon9:c.G740C:p.R247P;	0.126370376477232	0.488
18	202881	G	T	18	202881	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.G773T:p.R258L;USP14:NM_005151:exon11:c.G878T:p.R293L;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.G878T:p.R293L;ENSG00000101557:ENST00000582707:exon10:c.G773T:p.R258L;ENSG00000101557:ENST00000400266:exon10:c.G845T:p.R282L;ENSG00000101557:ENST00000383589:exon9:c.G740T:p.R247L;	0.200160221066997	0.474
18	202943	T	A	18	202943	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.T835A:p.S279T;USP14:NM_005151:exon11:c.T940A:p.S314T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.T940A:p.S314T;ENSG00000101557:ENST00000582707:exon10:c.T835A:p.S279T;ENSG00000101557:ENST00000400266:exon10:c.T907A:p.S303T;ENSG00000101557:ENST00000383589:exon9:c.T802A:p.S268T;	7.44363807643562E-4	0.004
18	202943	T	C	18	202943	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.T835C:p.S279P;USP14:NM_005151:exon11:c.T940C:p.S314P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.T940C:p.S314P;ENSG00000101557:ENST00000582707:exon10:c.T835C:p.S279P;ENSG00000101557:ENST00000400266:exon10:c.T907C:p.S303P;ENSG00000101557:ENST00000383589:exon9:c.T802C:p.S268P;	0.695534158395182	0.606
18	202943	T	G	18	202943	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.T835G:p.S279A;USP14:NM_005151:exon11:c.T940G:p.S314A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.T940G:p.S314A;ENSG00000101557:ENST00000582707:exon10:c.T835G:p.S279A;ENSG00000101557:ENST00000400266:exon10:c.T907G:p.S303A;ENSG00000101557:ENST00000383589:exon9:c.T802G:p.S268A;	0.764705579817194	0.578
18	202944	C	A	18	202944	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.C836A:p.S279Y;USP14:NM_005151:exon11:c.C941A:p.S314Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.C941A:p.S314Y;ENSG00000101557:ENST00000582707:exon10:c.C836A:p.S279Y;ENSG00000101557:ENST00000400266:exon10:c.C908A:p.S303Y;ENSG00000101557:ENST00000383589:exon9:c.C803A:p.S268Y;	0.968877526515022	0.7
18	202944	C	G	18	202944	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.C836G:p.S279C;USP14:NM_005151:exon11:c.C941G:p.S314C;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.C941G:p.S314C;ENSG00000101557:ENST00000582707:exon10:c.C836G:p.S279C;ENSG00000101557:ENST00000400266:exon10:c.C908G:p.S303C;ENSG00000101557:ENST00000383589:exon9:c.C803G:p.S268C;	0.986534923816408	0.904
18	202944	C	T	18	202944	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon10:c.C836T:p.S279F;USP14:NM_005151:exon11:c.C941T:p.S314F;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.C941T:p.S314F;ENSG00000101557:ENST00000582707:exon10:c.C836T:p.S279F;ENSG00000101557:ENST00000400266:exon10:c.C908T:p.S303F;ENSG00000101557:ENST00000383589:exon9:c.C803T:p.S268F;	0.99059751822766	0.864
18	202945	T	A	18	202945	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon10:c.T837A:p.S279S;USP14:NM_005151:exon11:c.T942A:p.S314S;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.T942A:p.S314S;ENSG00000101557:ENST00000582707:exon10:c.T837A:p.S279S;ENSG00000101557:ENST00000400266:exon10:c.T909A:p.S303S;ENSG00000101557:ENST00000383589:exon9:c.T804A:p.S268S;	6.74423339130838E-4	0.006
18	202945	T	C	18	202945	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon10:c.T837C:p.S279S;USP14:NM_005151:exon11:c.T942C:p.S314S;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.T942C:p.S314S;ENSG00000101557:ENST00000582707:exon10:c.T837C:p.S279S;ENSG00000101557:ENST00000400266:exon10:c.T909C:p.S303S;ENSG00000101557:ENST00000383589:exon9:c.T804C:p.S268S;	0.0345588450564322	0.342
18	202945	T	G	18	202945	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon10:c.T837G:p.S279S;USP14:NM_005151:exon11:c.T942G:p.S314S;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon11:c.T942G:p.S314S;ENSG00000101557:ENST00000582707:exon10:c.T837G:p.S279S;ENSG00000101557:ENST00000400266:exon10:c.T909G:p.S303S;ENSG00000101557:ENST00000383589:exon9:c.T804G:p.S268S;	0.00130319413780529	0.074
18	202946	G	A	18	202946	y	y	splicing	USP14(NM_005151:exon11:c.942+1G>A;NM_001037334:exon10:c.837+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.837+1G>A;ENST00000400266:exon10:c.909+1G>A;ENST00000383589:exon9:c.804+1G>A;ENST00000261601:exon11:c.942+1G>A)	.	.	0.999988247793601	0.926
18	202946	G	C	18	202946	y	y	splicing	USP14(NM_005151:exon11:c.942+1G>C;NM_001037334:exon10:c.837+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.837+1G>C;ENST00000400266:exon10:c.909+1G>C;ENST00000383589:exon9:c.804+1G>C;ENST00000261601:exon11:c.942+1G>C)	.	.	0.999988247793601	0.926
18	202946	G	T	18	202946	y	y	splicing	USP14(NM_005151:exon11:c.942+1G>T;NM_001037334:exon10:c.837+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.837+1G>T;ENST00000400266:exon10:c.909+1G>T;ENST00000383589:exon9:c.804+1G>T;ENST00000261601:exon11:c.942+1G>T)	.	.	0.999988247793601	0.926
18	202947	T	A	18	202947	y	y	splicing	USP14(NM_005151:exon11:c.942+2T>A;NM_001037334:exon10:c.837+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.837+2T>A;ENST00000400266:exon10:c.909+2T>A;ENST00000383589:exon9:c.804+2T>A;ENST00000261601:exon11:c.942+2T>A)	.	.	0.999992446697775	0.93
18	202947	T	C	18	202947	y	y	splicing	USP14(NM_005151:exon11:c.942+2T>C;NM_001037334:exon10:c.837+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.837+2T>C;ENST00000400266:exon10:c.909+2T>C;ENST00000383589:exon9:c.804+2T>C;ENST00000261601:exon11:c.942+2T>C)	.	.	0.998191892171331	0.754
18	202947	T	G	18	202947	y	y	splicing	USP14(NM_005151:exon11:c.942+2T>G;NM_001037334:exon10:c.837+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon10:c.837+2T>G;ENST00000400266:exon10:c.909+2T>G;ENST00000383589:exon9:c.804+2T>G;ENST00000261601:exon11:c.942+2T>G)	.	.	0.999992446697775	0.93
18	202948	A	C	18	202948	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999853874060327	0.928
18	202948	A	G	18	202948	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.044102362540191	0.236
18	202948	A	T	18	202948	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999895033657461	0.914
18	202949	A	C	18	202949	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999195855047147	0.902
18	202949	A	G	18	202949	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999237157627917	0.942
18	202949	A	T	18	202949	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.998578930084089	0.928
18	202950	G	A	18	202950	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999984947392413	0.976
18	202950	G	C	18	202950	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999984294912749	0.968
18	202950	G	T	18	202950	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999975181817252	0.98
18	202951	T	A	18	202951	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.976862698948583	0.754
18	202951	T	C	18	202951	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.996090686035733	0.894
18	202951	T	G	18	202951	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.920700438981605	0.772
18	202952	T	A	18	202952	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.60554742403257E-4	0.002
18	202952	T	C	18	202952	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.74111820442943E-4	0.006
18	202952	T	G	18	202952	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.74111820442943E-4	0.004
18	202953	A	C	18	202953	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.81159136363845E-5	0.004
18	202953	A	G	18	202953	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.81159136363845E-5	0.0
18	202953	A	T	18	202953	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.30675687931358E-5	0.0
18	203086	T	A	18	203086	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.98085978653296E-4	0.162
18	203086	T	C	18	203086	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.2248644104795E-4	0.002
18	203086	T	G	18	203086	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.52528164021883E-4	0.234
18	203087	T	A	18	203087	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999967502828776	0.952
18	203087	T	C	18	203087	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00139756499870576	0.074
18	203087	T	G	18	203087	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0270822570443001	0.37
18	203088	G	A	18	203088	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.53684848378839E-5	0.0
18	203088	G	C	18	203088	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.57312335552239E-5	0.0
18	203088	G	T	18	203088	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.59576903073333E-5	0.0
18	203089	T	A	18	203089	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0863976592322897	0.336
18	203089	T	C	18	203089	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00354186067012779	0.114
18	203089	T	G	18	203089	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0213942677095383	0.308
18	203090	C	A	18	203090	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.005851434219963	0.068
18	203090	C	G	18	203090	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00114852083636775	0.088
18	203090	C	T	18	203090	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.10151457284027E-5	0.004
18	203091	T	A	18	203091	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0169479951274335	0.14
18	203091	T	C	18	203091	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.08025534894544E-4	0.0
18	203091	T	G	18	203091	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0148135031513324	0.084
18	203092	C	A	18	203092	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.83621134639885E-4	0.086
18	203092	C	G	18	203092	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.65101101829395E-4	0.06
18	203092	C	T	18	203092	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.91891063945679E-5	0.002
18	203093	C	A	18	203093	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0102937162795219	0.124
18	203093	C	G	18	203093	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00290610915678934	0.11
18	203093	C	T	18	203093	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.79841676466306E-5	0.0
18	203094	T	A	18	203094	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.41263014557341E-4	0.002
18	203094	T	C	18	203094	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.74291900548361E-4	0.0
18	203094	T	G	18	203094	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.77742461374499E-4	0.004
18	203095	C	A	18	203095	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.145607094354452	0.258
18	203095	C	G	18	203095	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.986198998411037	0.694
18	203095	C	T	18	203095	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.98165496547319E-5	0.004
18	203096	A	C	18	203096	y	y	splicing	USP14(NM_005151:exon12:c.943-2A>C;NM_001037334:exon11:c.838-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.838-2A>C;ENST00000400266:exon11:c.910-2A>C;ENST00000383589:exon10:c.805-2A>C;ENST00000261601:exon12:c.943-2A>C)	.	.	0.999972871252391	0.878
18	203096	A	G	18	203096	y	y	splicing	USP14(NM_005151:exon12:c.943-2A>G;NM_001037334:exon11:c.838-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.838-2A>G;ENST00000400266:exon11:c.910-2A>G;ENST00000383589:exon10:c.805-2A>G;ENST00000261601:exon12:c.943-2A>G)	.	.	0.999972871252391	0.872
18	203096	A	T	18	203096	y	y	splicing	USP14(NM_005151:exon12:c.943-2A>T;NM_001037334:exon11:c.838-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.838-2A>T;ENST00000400266:exon11:c.910-2A>T;ENST00000383589:exon10:c.805-2A>T;ENST00000261601:exon12:c.943-2A>T)	.	.	0.999971317418422	0.896
18	203097	G	A	18	203097	y	y	splicing	USP14(NM_005151:exon12:c.943-1G>A;NM_001037334:exon11:c.838-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.838-1G>A;ENST00000400266:exon11:c.910-1G>A;ENST00000383589:exon10:c.805-1G>A;ENST00000261601:exon12:c.943-1G>A)	.	.	0.99996621969971	0.924
18	203097	G	C	18	203097	y	y	splicing	USP14(NM_005151:exon12:c.943-1G>C;NM_001037334:exon11:c.838-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.838-1G>C;ENST00000400266:exon11:c.910-1G>C;ENST00000383589:exon10:c.805-1G>C;ENST00000261601:exon12:c.943-1G>C)	.	.	0.999973328973086	0.908
18	203097	G	T	18	203097	y	y	splicing	USP14(NM_005151:exon12:c.943-1G>T;NM_001037334:exon11:c.838-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.838-1G>T;ENST00000400266:exon11:c.910-1G>T;ENST00000383589:exon10:c.805-1G>T;ENST00000261601:exon12:c.943-1G>T)	.	.	0.999955326288872	0.908
18	203098	T	A	18	203098	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.T838A:p.S280T;USP14:NM_005151:exon12:c.T943A:p.S315T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.T943A:p.S315T;ENSG00000101557:ENST00000582707:exon11:c.T838A:p.S280T;ENSG00000101557:ENST00000400266:exon11:c.T910A:p.S304T;ENSG00000101557:ENST00000383589:exon10:c.T805A:p.S269T;	0.502796487527457	0.554
18	203098	T	C	18	203098	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.T838C:p.S280P;USP14:NM_005151:exon12:c.T943C:p.S315P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.T943C:p.S315P;ENSG00000101557:ENST00000582707:exon11:c.T838C:p.S280P;ENSG00000101557:ENST00000400266:exon11:c.T910C:p.S304P;ENSG00000101557:ENST00000383589:exon10:c.T805C:p.S269P;	0.608807071452981	0.486
18	203098	T	G	18	203098	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.T838G:p.S280A;USP14:NM_005151:exon12:c.T943G:p.S315A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.T943G:p.S315A;ENSG00000101557:ENST00000582707:exon11:c.T838G:p.S280A;ENSG00000101557:ENST00000400266:exon11:c.T910G:p.S304A;ENSG00000101557:ENST00000383589:exon10:c.T805G:p.S269A;	0.587441745993272	0.482
18	203099	C	A	18	203099	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.C839A:p.S280Y;USP14:NM_005151:exon12:c.C944A:p.S315Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.C944A:p.S315Y;ENSG00000101557:ENST00000582707:exon11:c.C839A:p.S280Y;ENSG00000101557:ENST00000400266:exon11:c.C911A:p.S304Y;ENSG00000101557:ENST00000383589:exon10:c.C806A:p.S269Y;	0.992203216138428	0.73
18	203099	C	G	18	203099	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.C839G:p.S280C;USP14:NM_005151:exon12:c.C944G:p.S315C;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.C944G:p.S315C;ENSG00000101557:ENST00000582707:exon11:c.C839G:p.S280C;ENSG00000101557:ENST00000400266:exon11:c.C911G:p.S304C;ENSG00000101557:ENST00000383589:exon10:c.C806G:p.S269C;	0.98380353990503	0.732
18	203099	C	T	18	203099	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.C839T:p.S280F;USP14:NM_005151:exon12:c.C944T:p.S315F;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.C944T:p.S315F;ENSG00000101557:ENST00000582707:exon11:c.C839T:p.S280F;ENSG00000101557:ENST00000400266:exon11:c.C911T:p.S304F;ENSG00000101557:ENST00000383589:exon10:c.C806T:p.S269F;	0.976921072908153	0.816
18	203188	A	C	18	203188	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.A928C:p.K310Q;USP14:NM_005151:exon12:c.A1033C:p.K345Q;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.A1033C:p.K345Q;ENSG00000101557:ENST00000582707:exon11:c.A928C:p.K310Q;ENSG00000101557:ENST00000400266:exon11:c.A1000C:p.K334Q;ENSG00000101557:ENST00000383589:exon10:c.A895C:p.K299Q;	0.653591158970385	0.548
18	203188	A	G	18	203188	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.A928G:p.K310E;USP14:NM_005151:exon12:c.A1033G:p.K345E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.A1033G:p.K345E;ENSG00000101557:ENST00000582707:exon11:c.A928G:p.K310E;ENSG00000101557:ENST00000400266:exon11:c.A1000G:p.K334E;ENSG00000101557:ENST00000383589:exon10:c.A895G:p.K299E;	0.227569978835355	0.408
18	203188	A	T	18	203188	y	y	exonic	USP14	stopgain SNV	USP14:NM_001037334:exon11:c.A928T:p.K310X;USP14:NM_005151:exon12:c.A1033T:p.K345X;	exonic	ENSG00000101557	stopgain SNV	ENSG00000101557:ENST00000261601:exon12:c.A1033T:p.K345X;ENSG00000101557:ENST00000582707:exon11:c.A928T:p.K310X;ENSG00000101557:ENST00000400266:exon11:c.A1000T:p.K334X;ENSG00000101557:ENST00000383589:exon10:c.A895T:p.K299X;	0.923687200172873	0.648
18	203189	A	C	18	203189	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.A929C:p.K310T;USP14:NM_005151:exon12:c.A1034C:p.K345T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.A1034C:p.K345T;ENSG00000101557:ENST00000582707:exon11:c.A929C:p.K310T;ENSG00000101557:ENST00000400266:exon11:c.A1001C:p.K334T;ENSG00000101557:ENST00000383589:exon10:c.A896C:p.K299T;	0.995521395118682	0.942
18	203189	A	G	18	203189	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.A929G:p.K310R;USP14:NM_005151:exon12:c.A1034G:p.K345R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.A1034G:p.K345R;ENSG00000101557:ENST00000582707:exon11:c.A929G:p.K310R;ENSG00000101557:ENST00000400266:exon11:c.A1001G:p.K334R;ENSG00000101557:ENST00000383589:exon10:c.A896G:p.K299R;	0.998663688983104	0.952
18	203189	A	T	18	203189	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.A929T:p.K310M;USP14:NM_005151:exon12:c.A1034T:p.K345M;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.A1034T:p.K345M;ENSG00000101557:ENST00000582707:exon11:c.A929T:p.K310M;ENSG00000101557:ENST00000400266:exon11:c.A1001T:p.K334M;ENSG00000101557:ENST00000383589:exon10:c.A896T:p.K299M;	0.999264618139521	0.956
18	203190	G	A	18	203190	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon11:c.G930A:p.K310K;USP14:NM_005151:exon12:c.G1035A:p.K345K;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.G1035A:p.K345K;ENSG00000101557:ENST00000582707:exon11:c.G930A:p.K310K;ENSG00000101557:ENST00000400266:exon11:c.G1002A:p.K334K;ENSG00000101557:ENST00000383589:exon10:c.G897A:p.K299K;	0.999586156792222	0.998
18	203190	G	C	18	203190	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.G930C:p.K310N;USP14:NM_005151:exon12:c.G1035C:p.K345N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.G1035C:p.K345N;ENSG00000101557:ENST00000582707:exon11:c.G930C:p.K310N;ENSG00000101557:ENST00000400266:exon11:c.G1002C:p.K334N;ENSG00000101557:ENST00000383589:exon10:c.G897C:p.K299N;	0.999996309852613	0.996
18	203190	G	T	18	203190	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon11:c.G930T:p.K310N;USP14:NM_005151:exon12:c.G1035T:p.K345N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon12:c.G1035T:p.K345N;ENSG00000101557:ENST00000582707:exon11:c.G930T:p.K310N;ENSG00000101557:ENST00000400266:exon11:c.G1002T:p.K334N;ENSG00000101557:ENST00000383589:exon10:c.G897T:p.K299N;	0.999984142826805	0.982
18	203191	G	A	18	203191	y	y	splicing	USP14(NM_005151:exon12:c.1035+1G>A;NM_001037334:exon11:c.930+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.930+1G>A;ENST00000400266:exon11:c.1002+1G>A;ENST00000383589:exon10:c.897+1G>A;ENST00000261601:exon12:c.1035+1G>A)	.	.	0.999989072007339	0.934
18	203191	G	C	18	203191	y	y	splicing	USP14(NM_005151:exon12:c.1035+1G>C;NM_001037334:exon11:c.930+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.930+1G>C;ENST00000400266:exon11:c.1002+1G>C;ENST00000383589:exon10:c.897+1G>C;ENST00000261601:exon12:c.1035+1G>C)	.	.	0.999989072007339	0.934
18	203191	G	T	18	203191	y	y	splicing	USP14(NM_005151:exon12:c.1035+1G>T;NM_001037334:exon11:c.930+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.930+1G>T;ENST00000400266:exon11:c.1002+1G>T;ENST00000383589:exon10:c.897+1G>T;ENST00000261601:exon12:c.1035+1G>T)	.	.	0.999989072007339	0.934
18	203192	T	A	18	203192	y	y	splicing	USP14(NM_005151:exon12:c.1035+2T>A;NM_001037334:exon11:c.930+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.930+2T>A;ENST00000400266:exon11:c.1002+2T>A;ENST00000383589:exon10:c.897+2T>A;ENST00000261601:exon12:c.1035+2T>A)	.	.	0.999988247793601	0.928
18	203192	T	C	18	203192	y	y	splicing	USP14(NM_005151:exon12:c.1035+2T>C;NM_001037334:exon11:c.930+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.930+2T>C;ENST00000400266:exon11:c.1002+2T>C;ENST00000383589:exon10:c.897+2T>C;ENST00000261601:exon12:c.1035+2T>C)	.	.	0.986973409415639	0.656
18	203192	T	G	18	203192	y	y	splicing	USP14(NM_005151:exon12:c.1035+2T>G;NM_001037334:exon11:c.930+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon11:c.930+2T>G;ENST00000400266:exon11:c.1002+2T>G;ENST00000383589:exon10:c.897+2T>G;ENST00000261601:exon12:c.1035+2T>G)	.	.	0.999988247793601	0.928
18	203193	T	A	18	203193	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00124362643864364	0.06
18	203193	T	C	18	203193	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.56070029855496E-4	0.006
18	203193	T	G	18	203193	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.66617796573439E-4	0.032
18	203194	A	C	18	203194	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.192711870830208	0.548
18	203194	A	G	18	203194	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.235622181573091	0.518
18	203194	A	T	18	203194	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.785512334022746	0.59
18	203195	G	A	18	203195	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999887320429265	0.95
18	203195	G	C	18	203195	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999822476997371	0.838
18	203195	G	T	18	203195	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999730805537289	0.898
18	203196	T	A	18	203196	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.576392802513093	0.466
18	203196	T	C	18	203196	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.580245953197857	0.594
18	203196	T	G	18	203196	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.141237587249743	0.416
18	203197	A	C	18	203197	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.87680416612575E-5	0.0
18	203197	A	G	18	203197	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.25788420748545E-5	0.0
18	203197	A	T	18	203197	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.25788420748545E-5	0.0
18	203198	A	C	18	203198	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.75685663867235E-5	0.0
18	203198	A	G	18	203198	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.91564032431422E-5	0.0
18	203198	A	T	18	203198	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.0802893590191E-5	0.0
18	204552	G	A	18	204552	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.66876354150448E-5	0.002
18	204552	G	C	18	204552	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.80454135531654E-5	0.0
18	204552	G	T	18	204552	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.80454135531654E-5	0.036
18	204553	T	A	18	204553	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0318150514301756	0.272
18	204553	T	C	18	204553	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.83058438775658E-4	0.032
18	204553	T	G	18	204553	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0981291149567172	0.344
18	204554	T	A	18	204554	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0118262382637052	0.25
18	204554	T	C	18	204554	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.31186673401261E-4	0.09
18	204554	T	G	18	204554	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0183272607840672	0.264
18	204555	T	A	18	204555	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999944023713702	0.972
18	204555	T	C	18	204555	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.42429066987539E-4	0.124
18	204555	T	G	18	204555	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.532523890685587	0.586
18	204556	G	A	18	204556	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.30991002537836E-4	0.032
18	204556	G	C	18	204556	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.03150620259812E-4	0.0
18	204556	G	T	18	204556	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.7439659638959E-5	0.0
18	204557	T	A	18	204557	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0138130266282362	0.068
18	204557	T	C	18	204557	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.4861291366954E-4	0.032
18	204557	T	G	18	204557	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00255332293080922	0.032
18	204558	A	C	18	204558	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.20543378537447E-5	0.002
18	204558	A	G	18	204558	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.44401018837748E-5	0.0
18	204558	A	T	18	204558	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.20543378537447E-5	0.004
18	204559	T	A	18	204559	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0503503730850831	0.336
18	204559	T	C	18	204559	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.34681626904846E-5	0.006
18	204559	T	G	18	204559	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.971401279987238	0.768
18	204560	A	C	18	204560	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.43603020610805E-5	0.018
18	204560	A	G	18	204560	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.5477588081461E-5	0.012
18	204560	A	T	18	204560	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.37296950928401E-5	0.0
18	204561	T	A	18	204561	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00303813531777038	0.268
18	204561	T	C	18	204561	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.57687254017287E-5	0.014
18	204561	T	G	18	204561	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.985970921071874	0.698
18	204562	A	C	18	204562	y	y	splicing	USP14(NM_005151:exon13:c.1036-2A>C;NM_001037334:exon12:c.931-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.931-2A>C;ENST00000400266:exon12:c.1003-2A>C;ENST00000383589:exon11:c.898-2A>C;ENST00000261601:exon13:c.1036-2A>C)	.	.	0.999946188727699	0.948
18	204562	A	G	18	204562	y	y	splicing	USP14(NM_005151:exon13:c.1036-2A>G;NM_001037334:exon12:c.931-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.931-2A>G;ENST00000400266:exon12:c.1003-2A>G;ENST00000383589:exon11:c.898-2A>G;ENST00000261601:exon13:c.1036-2A>G)	.	.	0.999946188727699	0.948
18	204562	A	T	18	204562	y	y	splicing	USP14(NM_005151:exon13:c.1036-2A>T;NM_001037334:exon12:c.931-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.931-2A>T;ENST00000400266:exon12:c.1003-2A>T;ENST00000383589:exon11:c.898-2A>T;ENST00000261601:exon13:c.1036-2A>T)	.	.	0.99994568797423	0.946
18	204563	G	A	18	204563	y	y	splicing	USP14(NM_005151:exon13:c.1036-1G>A;NM_001037334:exon12:c.931-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.931-1G>A;ENST00000400266:exon12:c.1003-1G>A;ENST00000383589:exon11:c.898-1G>A;ENST00000261601:exon13:c.1036-1G>A)	.	.	0.999989072007339	0.934
18	204563	G	C	18	204563	y	y	splicing	USP14(NM_005151:exon13:c.1036-1G>C;NM_001037334:exon12:c.931-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.931-1G>C;ENST00000400266:exon12:c.1003-1G>C;ENST00000383589:exon11:c.898-1G>C;ENST00000261601:exon13:c.1036-1G>C)	.	.	0.999989072007339	0.934
18	204563	G	T	18	204563	y	y	splicing	USP14(NM_005151:exon13:c.1036-1G>T;NM_001037334:exon12:c.931-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.931-1G>T;ENST00000400266:exon12:c.1003-1G>T;ENST00000383589:exon11:c.898-1G>T;ENST00000261601:exon13:c.1036-1G>T)	.	.	0.999989072007339	0.934
18	204564	G	A	18	204564	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.G931A:p.D311N;USP14:NM_005151:exon13:c.G1036A:p.D346N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.G1036A:p.D346N;ENSG00000101557:ENST00000582707:exon12:c.G931A:p.D311N;ENSG00000101557:ENST00000400266:exon12:c.G1003A:p.D335N;ENSG00000101557:ENST00000383589:exon11:c.G898A:p.D300N;	0.999497541237683	0.928
18	204564	G	C	18	204564	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.G931C:p.D311H;USP14:NM_005151:exon13:c.G1036C:p.D346H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.G1036C:p.D346H;ENSG00000101557:ENST00000582707:exon12:c.G931C:p.D311H;ENSG00000101557:ENST00000400266:exon12:c.G1003C:p.D335H;ENSG00000101557:ENST00000383589:exon11:c.G898C:p.D300H;	0.999856205270264	0.994
18	204564	G	T	18	204564	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.G931T:p.D311Y;USP14:NM_005151:exon13:c.G1036T:p.D346Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.G1036T:p.D346Y;ENSG00000101557:ENST00000582707:exon12:c.G931T:p.D311Y;ENSG00000101557:ENST00000400266:exon12:c.G1003T:p.D335Y;ENSG00000101557:ENST00000383589:exon11:c.G898T:p.D300Y;	0.999907781403457	0.996
18	204565	A	C	18	204565	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.A932C:p.D311A;USP14:NM_005151:exon13:c.A1037C:p.D346A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1037C:p.D346A;ENSG00000101557:ENST00000582707:exon12:c.A932C:p.D311A;ENSG00000101557:ENST00000400266:exon12:c.A1004C:p.D335A;ENSG00000101557:ENST00000383589:exon11:c.A899C:p.D300A;	0.834377855097671	0.594
18	204565	A	G	18	204565	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.A932G:p.D311G;USP14:NM_005151:exon13:c.A1037G:p.D346G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1037G:p.D346G;ENSG00000101557:ENST00000582707:exon12:c.A932G:p.D311G;ENSG00000101557:ENST00000400266:exon12:c.A1004G:p.D335G;ENSG00000101557:ENST00000383589:exon11:c.A899G:p.D300G;	0.814753670941867	0.488
18	204565	A	T	18	204565	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.A932T:p.D311V;USP14:NM_005151:exon13:c.A1037T:p.D346V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1037T:p.D346V;ENSG00000101557:ENST00000582707:exon12:c.A932T:p.D311V;ENSG00000101557:ENST00000400266:exon12:c.A1004T:p.D335V;ENSG00000101557:ENST00000383589:exon11:c.A899T:p.D300V;	0.878968972149224	0.684
18	204690	A	C	18	204690	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.A1057C:p.T353P;USP14:NM_005151:exon13:c.A1162C:p.T388P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1162C:p.T388P;ENSG00000101557:ENST00000582707:exon12:c.A1057C:p.T353P;ENSG00000101557:ENST00000400266:exon12:c.A1129C:p.T377P;ENSG00000101557:ENST00000383589:exon11:c.A1024C:p.T342P;	8.15067302012598E-5	0.086
18	204690	A	G	18	204690	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.A1057G:p.T353A;USP14:NM_005151:exon13:c.A1162G:p.T388A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1162G:p.T388A;ENSG00000101557:ENST00000582707:exon12:c.A1057G:p.T353A;ENSG00000101557:ENST00000400266:exon12:c.A1129G:p.T377A;ENSG00000101557:ENST00000383589:exon11:c.A1024G:p.T342A;	0.00188217700594304	0.09
18	204690	A	T	18	204690	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.A1057T:p.T353S;USP14:NM_005151:exon13:c.A1162T:p.T388S;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1162T:p.T388S;ENSG00000101557:ENST00000582707:exon12:c.A1057T:p.T353S;ENSG00000101557:ENST00000400266:exon12:c.A1129T:p.T377S;ENSG00000101557:ENST00000383589:exon11:c.A1024T:p.T342S;	0.00742346351073019	0.256
18	204691	C	A	18	204691	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.C1058A:p.T353K;USP14:NM_005151:exon13:c.C1163A:p.T388K;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.C1163A:p.T388K;ENSG00000101557:ENST00000582707:exon12:c.C1058A:p.T353K;ENSG00000101557:ENST00000400266:exon12:c.C1130A:p.T377K;ENSG00000101557:ENST00000383589:exon11:c.C1025A:p.T342K;	0.0010337319947768	0.24
18	204691	C	G	18	204691	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.C1058G:p.T353R;USP14:NM_005151:exon13:c.C1163G:p.T388R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.C1163G:p.T388R;ENSG00000101557:ENST00000582707:exon12:c.C1058G:p.T353R;ENSG00000101557:ENST00000400266:exon12:c.C1130G:p.T377R;ENSG00000101557:ENST00000383589:exon11:c.C1025G:p.T342R;	6.22487489386412E-4	0.048
18	204691	C	T	18	204691	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon12:c.C1058T:p.T353I;USP14:NM_005151:exon13:c.C1163T:p.T388I;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.C1163T:p.T388I;ENSG00000101557:ENST00000582707:exon12:c.C1058T:p.T353I;ENSG00000101557:ENST00000400266:exon12:c.C1130T:p.T377I;ENSG00000101557:ENST00000383589:exon11:c.C1025T:p.T342I;	0.0178653363214011	0.098
18	204692	A	C	18	204692	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon12:c.A1059C:p.T353T;USP14:NM_005151:exon13:c.A1164C:p.T388T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1164C:p.T388T;ENSG00000101557:ENST00000582707:exon12:c.A1059C:p.T353T;ENSG00000101557:ENST00000400266:exon12:c.A1131C:p.T377T;ENSG00000101557:ENST00000383589:exon11:c.A1026C:p.T342T;	0.0464480625733324	0.34
18	204692	A	G	18	204692	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon12:c.A1059G:p.T353T;USP14:NM_005151:exon13:c.A1164G:p.T388T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1164G:p.T388T;ENSG00000101557:ENST00000582707:exon12:c.A1059G:p.T353T;ENSG00000101557:ENST00000400266:exon12:c.A1131G:p.T377T;ENSG00000101557:ENST00000383589:exon11:c.A1026G:p.T342T;	0.0025506878089061	0.078
18	204692	A	T	18	204692	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon12:c.A1059T:p.T353T;USP14:NM_005151:exon13:c.A1164T:p.T388T;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon13:c.A1164T:p.T388T;ENSG00000101557:ENST00000582707:exon12:c.A1059T:p.T353T;ENSG00000101557:ENST00000400266:exon12:c.A1131T:p.T377T;ENSG00000101557:ENST00000383589:exon11:c.A1026T:p.T342T;	0.0733252956462063	0.366
18	204693	G	A	18	204693	y	y	splicing	USP14(NM_005151:exon13:c.1164+1G>A;NM_001037334:exon12:c.1059+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.1059+1G>A;ENST00000400266:exon12:c.1131+1G>A;ENST00000383589:exon11:c.1026+1G>A;ENST00000261601:exon13:c.1164+1G>A)	.	.	0.999987670894945	0.94
18	204693	G	C	18	204693	y	y	splicing	USP14(NM_005151:exon13:c.1164+1G>C;NM_001037334:exon12:c.1059+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.1059+1G>C;ENST00000400266:exon12:c.1131+1G>C;ENST00000383589:exon11:c.1026+1G>C;ENST00000261601:exon13:c.1164+1G>C)	.	.	0.999987670894945	0.94
18	204693	G	T	18	204693	y	y	splicing	USP14(NM_005151:exon13:c.1164+1G>T;NM_001037334:exon12:c.1059+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.1059+1G>T;ENST00000400266:exon12:c.1131+1G>T;ENST00000383589:exon11:c.1026+1G>T;ENST00000261601:exon13:c.1164+1G>T)	.	.	0.999987670894945	0.94
18	204694	T	A	18	204694	y	y	splicing	USP14(NM_005151:exon13:c.1164+2T>A;NM_001037334:exon12:c.1059+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.1059+2T>A;ENST00000400266:exon12:c.1131+2T>A;ENST00000383589:exon11:c.1026+2T>A;ENST00000261601:exon13:c.1164+2T>A)	.	.	0.999986741007567	0.938
18	204694	T	C	18	204694	y	y	splicing	USP14(NM_005151:exon13:c.1164+2T>C;NM_001037334:exon12:c.1059+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.1059+2T>C;ENST00000400266:exon12:c.1131+2T>C;ENST00000383589:exon11:c.1026+2T>C;ENST00000261601:exon13:c.1164+2T>C)	.	.	0.988378196039765	0.654
18	204694	T	G	18	204694	y	y	splicing	USP14(NM_005151:exon13:c.1164+2T>G;NM_001037334:exon12:c.1059+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon12:c.1059+2T>G;ENST00000400266:exon12:c.1131+2T>G;ENST00000383589:exon11:c.1026+2T>G;ENST00000261601:exon13:c.1164+2T>G)	.	.	0.999986741007567	0.938
18	204695	A	C	18	204695	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999742231988923	0.95
18	204695	A	G	18	204695	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.997712710947975	0.976
18	204695	A	T	18	204695	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999936584100443	0.966
18	204696	G	A	18	204696	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.85812098592655E-4	0.06
18	204696	G	C	18	204696	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.61799161860212E-4	0.334
18	204696	G	T	18	204696	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.0534583725581E-4	0.08
18	204697	G	A	18	204697	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999962957128483	0.998
18	204697	G	C	18	204697	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999968655913914	0.998
18	204697	G	T	18	204697	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999968655913914	0.974
18	204698	T	A	18	204698	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999132026574918	0.894
18	204698	T	C	18	204698	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.997978584011674	0.954
18	204698	T	G	18	204698	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999547858725737	0.934
18	204699	T	A	18	204699	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00545567321958512	0.06
18	204699	T	C	18	204699	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00352349547613602	0.05
18	204699	T	G	18	204699	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00352349547613602	0.04
18	204700	C	A	18	204700	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.32120845427226E-4	0.018
18	204700	C	G	18	204700	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.81925635773552E-4	0.03
18	204700	C	T	18	204700	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.40666775423948E-4	0.016
18	209959	T	A	18	209959	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00479166261114899	0.31
18	209959	T	C	18	209959	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00105328781269191	0.056
18	209959	T	G	18	209959	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00201914185304786	0.216
18	209960	T	A	18	209960	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.54247965510467E-4	0.176
18	209960	T	C	18	209960	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.62300598296898E-4	0.012
18	209960	T	G	18	209960	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.46987897158753E-4	0.156
18	209961	T	A	18	209961	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00400581970321385	0.242
18	209961	T	C	18	209961	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.09361807295797E-4	0.04
18	209961	T	G	18	209961	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.86327147794667E-4	0.196
18	209962	T	A	18	209962	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00112700882366019	0.142
18	209962	T	C	18	209962	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.14299130493737E-4	0.008
18	209962	T	G	18	209962	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.79530269167078E-4	0.12
18	209963	C	A	18	209963	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.9672652555384E-5	0.044
18	209963	C	G	18	209963	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.01038688405859E-5	0.018
18	209963	C	T	18	209963	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.89216138281628E-5	0.004
18	209964	T	A	18	209964	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.8674568821668E-4	0.026
18	209964	T	C	18	209964	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.88521936825801E-6	0.002
18	209964	T	G	18	209964	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.72522472441491E-4	0.026
18	209965	C	A	18	209965	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.74078032083576E-4	0.102
18	209965	C	G	18	209965	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.74935144756727E-4	0.112
18	209965	C	T	18	209965	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.49622379084415E-5	0.004
18	209966	C	A	18	209966	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00123524584340095	0.036
18	209966	C	G	18	209966	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00191440420713015	0.106
18	209966	C	T	18	209966	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.83293220362904E-5	0.0
18	209967	T	A	18	209967	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00159601851276236	0.02
18	209967	T	C	18	209967	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00109180748080803	0.018
18	209967	T	G	18	209967	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00158792259853507	0.038
18	209968	C	A	18	209968	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.180060773751503	0.314
18	209968	C	G	18	209968	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.985980524348869	0.634
18	209968	C	T	18	209968	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.74311948027416E-4	0.002
18	209969	A	C	18	209969	y	y	splicing	USP14(NM_005151:exon14:c.1165-2A>C;NM_001037334:exon13:c.1060-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1060-2A>C;ENST00000400266:exon13:c.1132-2A>C;ENST00000383589:exon12:c.1027-2A>C;ENST00000261601:exon14:c.1165-2A>C)	.	.	0.999993519952936	0.926
18	209969	A	G	18	209969	y	y	splicing	USP14(NM_005151:exon14:c.1165-2A>G;NM_001037334:exon13:c.1060-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1060-2A>G;ENST00000400266:exon13:c.1132-2A>G;ENST00000383589:exon12:c.1027-2A>G;ENST00000261601:exon14:c.1165-2A>G)	.	.	0.999993519952936	0.926
18	209969	A	T	18	209969	y	y	splicing	USP14(NM_005151:exon14:c.1165-2A>T;NM_001037334:exon13:c.1060-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1060-2A>T;ENST00000400266:exon13:c.1132-2A>T;ENST00000383589:exon12:c.1027-2A>T;ENST00000261601:exon14:c.1165-2A>T)	.	.	0.999993519952936	0.914
18	209970	G	A	18	209970	y	y	splicing	USP14(NM_005151:exon14:c.1165-1G>A;NM_001037334:exon13:c.1060-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1060-1G>A;ENST00000400266:exon13:c.1132-1G>A;ENST00000383589:exon12:c.1027-1G>A;ENST00000261601:exon14:c.1165-1G>A)	.	.	0.999992446697775	0.936
18	209970	G	C	18	209970	y	y	splicing	USP14(NM_005151:exon14:c.1165-1G>C;NM_001037334:exon13:c.1060-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1060-1G>C;ENST00000400266:exon13:c.1132-1G>C;ENST00000383589:exon12:c.1027-1G>C;ENST00000261601:exon14:c.1165-1G>C)	.	.	0.999992446697775	0.936
18	209970	G	T	18	209970	y	y	splicing	USP14(NM_005151:exon14:c.1165-1G>T;NM_001037334:exon13:c.1060-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1060-1G>T;ENST00000400266:exon13:c.1132-1G>T;ENST00000383589:exon12:c.1027-1G>T;ENST00000261601:exon14:c.1165-1G>T)	.	.	0.999992446697775	0.936
18	209971	A	C	18	209971	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.A1060C:p.S354R;USP14:NM_005151:exon14:c.A1165C:p.S389R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.A1165C:p.S389R;ENSG00000101557:ENST00000582707:exon13:c.A1060C:p.S354R;ENSG00000101557:ENST00000400266:exon13:c.A1132C:p.S378R;ENSG00000101557:ENST00000383589:exon12:c.A1027C:p.S343R;	3.52562310947745E-4	0.026
18	209971	A	G	18	209971	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.A1060G:p.S354G;USP14:NM_005151:exon14:c.A1165G:p.S389G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.A1165G:p.S389G;ENSG00000101557:ENST00000582707:exon13:c.A1060G:p.S354G;ENSG00000101557:ENST00000400266:exon13:c.A1132G:p.S378G;ENSG00000101557:ENST00000383589:exon12:c.A1027G:p.S343G;	4.06065686131423E-5	0.008
18	209971	A	T	18	209971	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.A1060T:p.S354C;USP14:NM_005151:exon14:c.A1165T:p.S389C;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.A1165T:p.S389C;ENSG00000101557:ENST00000582707:exon13:c.A1060T:p.S354C;ENSG00000101557:ENST00000400266:exon13:c.A1132T:p.S378C;ENSG00000101557:ENST00000383589:exon12:c.A1027T:p.S343C;	5.20304148219224E-5	0.102
18	209972	G	A	18	209972	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.G1061A:p.S354N;USP14:NM_005151:exon14:c.G1166A:p.S389N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.G1166A:p.S389N;ENSG00000101557:ENST00000582707:exon13:c.G1061A:p.S354N;ENSG00000101557:ENST00000400266:exon13:c.G1133A:p.S378N;ENSG00000101557:ENST00000383589:exon12:c.G1028A:p.S343N;	2.03362534194226E-4	0.012
18	209972	G	C	18	209972	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.G1061C:p.S354T;USP14:NM_005151:exon14:c.G1166C:p.S389T;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.G1166C:p.S389T;ENSG00000101557:ENST00000582707:exon13:c.G1061C:p.S354T;ENSG00000101557:ENST00000400266:exon13:c.G1133C:p.S378T;ENSG00000101557:ENST00000383589:exon12:c.G1028C:p.S343T;	8.63429236239411E-5	0.04
18	209972	G	T	18	209972	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.G1061T:p.S354I;USP14:NM_005151:exon14:c.G1166T:p.S389I;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.G1166T:p.S389I;ENSG00000101557:ENST00000582707:exon13:c.G1061T:p.S354I;ENSG00000101557:ENST00000400266:exon13:c.G1133T:p.S378I;ENSG00000101557:ENST00000383589:exon12:c.G1028T:p.S343I;	6.90302407079104E-5	0.076
18	210029	A	C	18	210029	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.A1118C:p.D373A;USP14:NM_005151:exon14:c.A1223C:p.D408A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.A1223C:p.D408A;ENSG00000101557:ENST00000582707:exon13:c.A1118C:p.D373A;ENSG00000101557:ENST00000400266:exon13:c.A1190C:p.D397A;ENSG00000101557:ENST00000383589:exon12:c.A1085C:p.D362A;	0.00710013543612788	0.048
18	210029	A	G	18	210029	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.A1118G:p.D373G;USP14:NM_005151:exon14:c.A1223G:p.D408G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.A1223G:p.D408G;ENSG00000101557:ENST00000582707:exon13:c.A1118G:p.D373G;ENSG00000101557:ENST00000400266:exon13:c.A1190G:p.D397G;ENSG00000101557:ENST00000383589:exon12:c.A1085G:p.D362G;	0.00135637521823199	0.028
18	210029	A	T	18	210029	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.A1118T:p.D373V;USP14:NM_005151:exon14:c.A1223T:p.D408V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.A1223T:p.D408V;ENSG00000101557:ENST00000582707:exon13:c.A1118T:p.D373V;ENSG00000101557:ENST00000400266:exon13:c.A1190T:p.D397V;ENSG00000101557:ENST00000383589:exon12:c.A1085T:p.D362V;	0.0278193696724958	0.18
18	210030	T	A	18	210030	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.T1119A:p.D373E;USP14:NM_005151:exon14:c.T1224A:p.D408E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.T1224A:p.D408E;ENSG00000101557:ENST00000582707:exon13:c.T1119A:p.D373E;ENSG00000101557:ENST00000400266:exon13:c.T1191A:p.D397E;ENSG00000101557:ENST00000383589:exon12:c.T1086A:p.D362E;	0.00127493865232545	0.12
18	210030	T	C	18	210030	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon13:c.T1119C:p.D373D;USP14:NM_005151:exon14:c.T1224C:p.D408D;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.T1224C:p.D408D;ENSG00000101557:ENST00000582707:exon13:c.T1119C:p.D373D;ENSG00000101557:ENST00000400266:exon13:c.T1191C:p.D397D;ENSG00000101557:ENST00000383589:exon12:c.T1086C:p.D362D;	3.04279158746118E-4	0.026
18	210030	T	G	18	210030	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.T1119G:p.D373E;USP14:NM_005151:exon14:c.T1224G:p.D408E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.T1224G:p.D408E;ENSG00000101557:ENST00000582707:exon13:c.T1119G:p.D373E;ENSG00000101557:ENST00000400266:exon13:c.T1191G:p.D397E;ENSG00000101557:ENST00000383589:exon12:c.T1086G:p.D362E;	0.00480172680148625	0.06
18	210031	G	A	18	210031	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.G1120A:p.D374N;USP14:NM_005151:exon14:c.G1225A:p.D409N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.G1225A:p.D409N;ENSG00000101557:ENST00000582707:exon13:c.G1120A:p.D374N;ENSG00000101557:ENST00000400266:exon13:c.G1192A:p.D398N;ENSG00000101557:ENST00000383589:exon12:c.G1087A:p.D363N;	0.999727463382254	0.984
18	210031	G	C	18	210031	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.G1120C:p.D374H;USP14:NM_005151:exon14:c.G1225C:p.D409H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.G1225C:p.D409H;ENSG00000101557:ENST00000582707:exon13:c.G1120C:p.D374H;ENSG00000101557:ENST00000400266:exon13:c.G1192C:p.D398H;ENSG00000101557:ENST00000383589:exon12:c.G1087C:p.D363H;	0.999582218734222	0.954
18	210031	G	T	18	210031	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon13:c.G1120T:p.D374Y;USP14:NM_005151:exon14:c.G1225T:p.D409Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon14:c.G1225T:p.D409Y;ENSG00000101557:ENST00000582707:exon13:c.G1120T:p.D374Y;ENSG00000101557:ENST00000400266:exon13:c.G1192T:p.D398Y;ENSG00000101557:ENST00000383589:exon12:c.G1087T:p.D363Y;	0.999433299854147	0.942
18	210032	G	A	18	210032	y	y	splicing	USP14(NM_005151:exon14:c.1225+1G>A;NM_001037334:exon13:c.1120+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1120+1G>A;ENST00000400266:exon13:c.1192+1G>A;ENST00000383589:exon12:c.1087+1G>A;ENST00000261601:exon14:c.1225+1G>A)	.	.	0.999985353572514	0.882
18	210032	G	C	18	210032	y	y	splicing	USP14(NM_005151:exon14:c.1225+1G>C;NM_001037334:exon13:c.1120+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1120+1G>C;ENST00000400266:exon13:c.1192+1G>C;ENST00000383589:exon12:c.1087+1G>C;ENST00000261601:exon14:c.1225+1G>C)	.	.	0.99998382861657	0.856
18	210032	G	T	18	210032	y	y	splicing	USP14(NM_005151:exon14:c.1225+1G>T;NM_001037334:exon13:c.1120+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1120+1G>T;ENST00000400266:exon13:c.1192+1G>T;ENST00000383589:exon12:c.1087+1G>T;ENST00000261601:exon14:c.1225+1G>T)	.	.	0.99998382861657	0.874
18	210033	T	A	18	210033	y	y	splicing	USP14(NM_005151:exon14:c.1225+2T>A;NM_001037334:exon13:c.1120+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1120+2T>A;ENST00000400266:exon13:c.1192+2T>A;ENST00000383589:exon12:c.1087+2T>A;ENST00000261601:exon14:c.1225+2T>A)	.	.	0.99998382861657	0.862
18	210033	T	C	18	210033	y	y	splicing	USP14(NM_005151:exon14:c.1225+2T>C;NM_001037334:exon13:c.1120+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1120+2T>C;ENST00000400266:exon13:c.1192+2T>C;ENST00000383589:exon12:c.1087+2T>C;ENST00000261601:exon14:c.1225+2T>C)	.	.	0.957816868647232	0.53
18	210033	T	G	18	210033	y	y	splicing	USP14(NM_005151:exon14:c.1225+2T>G;NM_001037334:exon13:c.1120+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon13:c.1120+2T>G;ENST00000400266:exon13:c.1192+2T>G;ENST00000383589:exon12:c.1087+2T>G;ENST00000261601:exon14:c.1225+2T>G)	.	.	0.99998382861657	0.844
18	210034	A	C	18	210034	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.991371104169839	0.76
18	210034	A	G	18	210034	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.17977651022418E-4	0.078
18	210034	A	T	18	210034	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.89437733201691	0.664
18	210035	A	C	18	210035	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.546003346721978	0.446
18	210035	A	G	18	210035	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.565217062529598	0.46
18	210035	A	T	18	210035	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.566344431943186	0.484
18	210036	G	A	18	210036	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.987603224081401	0.692
18	210036	G	C	18	210036	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.99645134575566	0.772
18	210036	G	T	18	210036	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.990836114156408	0.686
18	210037	T	A	18	210037	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0646092315406618	0.336
18	210037	T	C	18	210037	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.159539533071297	0.34
18	210037	T	G	18	210037	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0216125645115277	0.25
18	210038	A	C	18	210038	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.70327900332456E-6	0.002
18	210038	A	G	18	210038	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.28940461414424E-6	0.002
18	210038	A	T	18	210038	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.28940461414424E-6	0.002
18	210039	A	C	18	210039	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.97277514433182E-5	0.002
18	210039	A	G	18	210039	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.37207358865008E-5	0.002
18	210039	A	T	18	210039	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.97277514433182E-5	0.008
18	210374	A	C	18	210374	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.73621616301004E-6	0.0
18	210374	A	G	18	210374	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.18216792192745E-5	0.028
18	210374	A	T	18	210374	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.250243698046E-5	0.0
18	210375	T	A	18	210375	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.9667628087105	0.644
18	210375	T	C	18	210375	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0129323334304352	0.25
18	210375	T	G	18	210375	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.99996706400924	0.958
18	210376	C	A	18	210376	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00162841554255315	0.062
18	210376	C	G	18	210376	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.21050412866863E-4	0.05
18	210376	C	T	18	210376	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.28511927506423E-5	0.0
18	210377	T	A	18	210377	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.489544279785662	0.5
18	210377	T	C	18	210377	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.7730172670696E-4	0.04
18	210377	T	G	18	210377	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.150882840144781	0.486
18	210378	T	A	18	210378	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0329173808084416	0.112
18	210378	T	C	18	210378	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.56948192945595E-4	0.002
18	210378	T	G	18	210378	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00116089801524465	0.14
18	210379	T	A	18	210379	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.114344727379592	0.146
18	210379	T	C	18	210379	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.17330793035034E-5	0.012
18	210379	T	G	18	210379	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.022095409736029	0.112
18	210380	C	A	18	210380	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.83928294570011E-4	0.106
18	210380	C	G	18	210380	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.32170394738432E-4	0.138
18	210380	C	T	18	210380	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.47427751379661E-5	0.0
18	210381	T	A	18	210381	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.73024216756295	0.444
18	210381	T	C	18	210381	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.54431302592364E-4	0.026
18	210381	T	G	18	210381	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.884706867421437	0.464
18	210382	T	A	18	210382	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.40741778778032E-5	0.018
18	210382	T	C	18	210382	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.3204113129851E-5	0.016
18	210382	T	G	18	210382	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.22192439018899E-5	0.012
18	210383	T	A	18	210383	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.101682535157835	0.422
18	210383	T	C	18	210383	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.79150956951296E-4	0.026
18	210383	T	G	18	210383	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.99394134852793	0.734
18	210384	A	C	18	210384	y	y	splicing	USP14(NM_005151:exon15:c.1226-2A>C;NM_001037334:exon14:c.1121-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1121-2A>C;ENST00000400266:exon14:c.1193-2A>C;ENST00000383589:exon13:c.1088-2A>C;ENST00000261601:exon15:c.1226-2A>C)	.	.	0.998514423391117	0.568
18	210384	A	G	18	210384	y	y	splicing	USP14(NM_005151:exon15:c.1226-2A>G;NM_001037334:exon14:c.1121-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1121-2A>G;ENST00000400266:exon14:c.1193-2A>G;ENST00000383589:exon13:c.1088-2A>G;ENST00000261601:exon15:c.1226-2A>G)	.	.	0.998514423391117	0.568
18	210384	A	T	18	210384	y	y	splicing	USP14(NM_005151:exon15:c.1226-2A>T;NM_001037334:exon14:c.1121-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1121-2A>T;ENST00000400266:exon14:c.1193-2A>T;ENST00000383589:exon13:c.1088-2A>T;ENST00000261601:exon15:c.1226-2A>T)	.	.	0.998514423391117	0.574
18	210385	G	A	18	210385	y	y	splicing	USP14(NM_005151:exon15:c.1226-1G>A;NM_001037334:exon14:c.1121-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1121-1G>A;ENST00000400266:exon14:c.1193-1G>A;ENST00000383589:exon13:c.1088-1G>A;ENST00000261601:exon15:c.1226-1G>A)	.	.	0.99994568797423	0.918
18	210385	G	C	18	210385	y	y	splicing	USP14(NM_005151:exon15:c.1226-1G>C;NM_001037334:exon14:c.1121-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1121-1G>C;ENST00000400266:exon14:c.1193-1G>C;ENST00000383589:exon13:c.1088-1G>C;ENST00000261601:exon15:c.1226-1G>C)	.	.	0.99994568797423	0.926
18	210385	G	T	18	210385	y	y	splicing	USP14(NM_005151:exon15:c.1226-1G>T;NM_001037334:exon14:c.1121-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1121-1G>T;ENST00000400266:exon14:c.1193-1G>T;ENST00000383589:exon13:c.1088-1G>T;ENST00000261601:exon15:c.1226-1G>T)	.	.	0.99994568797423	0.918
18	210386	A	C	18	210386	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.A1121C:p.D374A;USP14:NM_005151:exon15:c.A1226C:p.D409A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1226C:p.D409A;ENSG00000101557:ENST00000582707:exon14:c.A1121C:p.D374A;ENSG00000101557:ENST00000400266:exon14:c.A1193C:p.D398A;ENSG00000101557:ENST00000383589:exon13:c.A1088C:p.D363A;	0.417762320328106	0.534
18	210386	A	G	18	210386	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.A1121G:p.D374G;USP14:NM_005151:exon15:c.A1226G:p.D409G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1226G:p.D409G;ENSG00000101557:ENST00000582707:exon14:c.A1121G:p.D374G;ENSG00000101557:ENST00000400266:exon14:c.A1193G:p.D398G;ENSG00000101557:ENST00000383589:exon13:c.A1088G:p.D363G;	0.784323962463024	0.648
18	210386	A	T	18	210386	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.A1121T:p.D374V;USP14:NM_005151:exon15:c.A1226T:p.D409V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1226T:p.D409V;ENSG00000101557:ENST00000582707:exon14:c.A1121T:p.D374V;ENSG00000101557:ENST00000400266:exon14:c.A1193T:p.D398V;ENSG00000101557:ENST00000383589:exon13:c.A1088T:p.D363V;	0.306577721763832	0.422
18	210387	T	A	18	210387	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.T1122A:p.D374E;USP14:NM_005151:exon15:c.T1227A:p.D409E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.T1227A:p.D409E;ENSG00000101557:ENST00000582707:exon14:c.T1122A:p.D374E;ENSG00000101557:ENST00000400266:exon14:c.T1194A:p.D398E;ENSG00000101557:ENST00000383589:exon13:c.T1089A:p.D363E;	0.00349649987961565	0.144
18	210387	T	C	18	210387	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon14:c.T1122C:p.D374D;USP14:NM_005151:exon15:c.T1227C:p.D409D;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.T1227C:p.D409D;ENSG00000101557:ENST00000582707:exon14:c.T1122C:p.D374D;ENSG00000101557:ENST00000400266:exon14:c.T1194C:p.D398D;ENSG00000101557:ENST00000383589:exon13:c.T1089C:p.D363D;	0.00312334774476478	0.114
18	210387	T	G	18	210387	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.T1122G:p.D374E;USP14:NM_005151:exon15:c.T1227G:p.D409E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.T1227G:p.D409E;ENSG00000101557:ENST00000582707:exon14:c.T1122G:p.D374E;ENSG00000101557:ENST00000400266:exon14:c.T1194G:p.D398E;ENSG00000101557:ENST00000383589:exon13:c.T1089G:p.D363E;	0.00341774836945455	0.196
18	210491	A	C	18	210491	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.A1226C:p.Q409P;USP14:NM_005151:exon15:c.A1331C:p.Q444P;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1331C:p.Q444P;ENSG00000101557:ENST00000582707:exon14:c.A1226C:p.Q409P;ENSG00000101557:ENST00000400266:exon14:c.A1298C:p.Q433P;ENSG00000101557:ENST00000383589:exon13:c.A1193C:p.Q398P;	0.00364964621888091	0.012
18	210491	A	G	18	210491	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.A1226G:p.Q409R;USP14:NM_005151:exon15:c.A1331G:p.Q444R;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1331G:p.Q444R;ENSG00000101557:ENST00000582707:exon14:c.A1226G:p.Q409R;ENSG00000101557:ENST00000400266:exon14:c.A1298G:p.Q433R;ENSG00000101557:ENST00000383589:exon13:c.A1193G:p.Q398R;	0.00209345988193007	0.064
18	210491	A	T	18	210491	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.A1226T:p.Q409L;USP14:NM_005151:exon15:c.A1331T:p.Q444L;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1331T:p.Q444L;ENSG00000101557:ENST00000582707:exon14:c.A1226T:p.Q409L;ENSG00000101557:ENST00000400266:exon14:c.A1298T:p.Q433L;ENSG00000101557:ENST00000383589:exon13:c.A1193T:p.Q398L;	0.681369487219649	0.464
18	210492	A	C	18	210492	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.A1227C:p.Q409H;USP14:NM_005151:exon15:c.A1332C:p.Q444H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1332C:p.Q444H;ENSG00000101557:ENST00000582707:exon14:c.A1227C:p.Q409H;ENSG00000101557:ENST00000400266:exon14:c.A1299C:p.Q433H;ENSG00000101557:ENST00000383589:exon13:c.A1194C:p.Q398H;	0.460350013902021	0.66
18	210492	A	G	18	210492	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon14:c.A1227G:p.Q409Q;USP14:NM_005151:exon15:c.A1332G:p.Q444Q;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1332G:p.Q444Q;ENSG00000101557:ENST00000582707:exon14:c.A1227G:p.Q409Q;ENSG00000101557:ENST00000400266:exon14:c.A1299G:p.Q433Q;ENSG00000101557:ENST00000383589:exon13:c.A1194G:p.Q398Q;	0.891887222326112	0.672
18	210492	A	T	18	210492	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.A1227T:p.Q409H;USP14:NM_005151:exon15:c.A1332T:p.Q444H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.A1332T:p.Q444H;ENSG00000101557:ENST00000582707:exon14:c.A1227T:p.Q409H;ENSG00000101557:ENST00000400266:exon14:c.A1299T:p.Q433H;ENSG00000101557:ENST00000383589:exon13:c.A1194T:p.Q398H;	0.991855191237591	0.706
18	210493	G	A	18	210493	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.G1228A:p.D410N;USP14:NM_005151:exon15:c.G1333A:p.D445N;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.G1333A:p.D445N;ENSG00000101557:ENST00000582707:exon14:c.G1228A:p.D410N;ENSG00000101557:ENST00000400266:exon14:c.G1300A:p.D434N;ENSG00000101557:ENST00000383589:exon13:c.G1195A:p.D399N;	0.999978060584688	0.978
18	210493	G	C	18	210493	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.G1228C:p.D410H;USP14:NM_005151:exon15:c.G1333C:p.D445H;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.G1333C:p.D445H;ENSG00000101557:ENST00000582707:exon14:c.G1228C:p.D410H;ENSG00000101557:ENST00000400266:exon14:c.G1300C:p.D434H;ENSG00000101557:ENST00000383589:exon13:c.G1195C:p.D399H;	0.999997890243197	0.994
18	210493	G	T	18	210493	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon14:c.G1228T:p.D410Y;USP14:NM_005151:exon15:c.G1333T:p.D445Y;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon15:c.G1333T:p.D445Y;ENSG00000101557:ENST00000582707:exon14:c.G1228T:p.D410Y;ENSG00000101557:ENST00000400266:exon14:c.G1300T:p.D434Y;ENSG00000101557:ENST00000383589:exon13:c.G1195T:p.D399Y;	0.999985639346161	0.996
18	210494	G	A	18	210494	y	y	splicing	USP14(NM_005151:exon15:c.1333+1G>A;NM_001037334:exon14:c.1228+1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1228+1G>A;ENST00000400266:exon14:c.1300+1G>A;ENST00000383589:exon13:c.1195+1G>A;ENST00000261601:exon15:c.1333+1G>A)	.	.	0.999964896440643	0.93
18	210494	G	C	18	210494	y	y	splicing	USP14(NM_005151:exon15:c.1333+1G>C;NM_001037334:exon14:c.1228+1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1228+1G>C;ENST00000400266:exon14:c.1300+1G>C;ENST00000383589:exon13:c.1195+1G>C;ENST00000261601:exon15:c.1333+1G>C)	.	.	0.999971317418422	0.9
18	210494	G	T	18	210494	y	y	splicing	USP14(NM_005151:exon15:c.1333+1G>T;NM_001037334:exon14:c.1228+1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1228+1G>T;ENST00000400266:exon14:c.1300+1G>T;ENST00000383589:exon13:c.1195+1G>T;ENST00000261601:exon15:c.1333+1G>T)	.	.	0.999963671976247	0.916
18	210495	T	A	18	210495	y	y	splicing	USP14(NM_005151:exon15:c.1333+2T>A;NM_001037334:exon14:c.1228+2T>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1228+2T>A;ENST00000400266:exon14:c.1300+2T>A;ENST00000383589:exon13:c.1195+2T>A;ENST00000261601:exon15:c.1333+2T>A)	.	.	0.99998491298609	0.892
18	210495	T	C	18	210495	y	y	splicing	USP14(NM_005151:exon15:c.1333+2T>C;NM_001037334:exon14:c.1228+2T>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1228+2T>C;ENST00000400266:exon14:c.1300+2T>C;ENST00000383589:exon13:c.1195+2T>C;ENST00000261601:exon15:c.1333+2T>C)	.	.	0.979115186605562	0.554
18	210495	T	G	18	210495	y	y	splicing	USP14(NM_005151:exon15:c.1333+2T>G;NM_001037334:exon14:c.1228+2T>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon14:c.1228+2T>G;ENST00000400266:exon14:c.1300+2T>G;ENST00000383589:exon13:c.1195+2T>G;ENST00000261601:exon15:c.1333+2T>G)	.	.	0.99998491298609	0.89
18	210496	A	C	18	210496	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999731860605869	0.842
18	210496	A	G	18	210496	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.979950997499652	0.556
18	210496	A	T	18	210496	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.99945539758844	0.76
18	210497	A	C	18	210497	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.649271033348913	0.426
18	210497	A	G	18	210497	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.825365484210558	0.458
18	210497	A	T	18	210497	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.781283113192386	0.456
18	210498	A	C	18	210498	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.44582033869044E-4	0.014
18	210498	A	G	18	210498	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.30614890030334E-5	0.008
18	210498	A	T	18	210498	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.87016366232535E-5	0.002
18	210499	G	A	18	210499	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.05655835193025E-5	0.004
18	210499	G	C	18	210499	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.92804761478981E-5	0.012
18	210499	G	T	18	210499	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.37887454277125E-5	0.012
18	210500	G	A	18	210500	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.17246496461593E-5	0.0
18	210500	G	C	18	210500	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.28475376997949E-5	0.0
18	210500	G	T	18	210500	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	5.59645940764006E-5	0.0
18	210501	G	A	18	210501	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.3519283322177E-6	0.0
18	210501	G	C	18	210501	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.3519283322177E-6	0.002
18	210501	G	T	18	210501	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.3519283322177E-6	0.0
18	211121	C	A	18	211121	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.56250339779156E-4	0.038
18	211121	C	G	18	211121	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.73867942398996E-4	0.066
18	211121	C	T	18	211121	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.55908716824608E-5	0.0
18	211122	C	A	18	211122	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.23741821977266E-4	0.046
18	211122	C	G	18	211122	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.29237160364322E-5	0.026
18	211122	C	T	18	211122	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.04737572979891E-5	0.0
18	211123	T	A	18	211123	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.984894616644514	0.79
18	211123	T	C	18	211123	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.99458132783197E-5	0.03
18	211123	T	G	18	211123	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00122095502643209	0.16
18	211124	G	A	18	211124	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	4.19025533419615E-5	0.002
18	211124	G	C	18	211124	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	2.01241874450346E-5	0.006
18	211124	G	T	18	211124	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.6145473046765E-5	0.0
18	211125	T	A	18	211125	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00214475970946838	0.234
18	211125	T	C	18	211125	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.13971999507353E-5	0.006
18	211125	T	G	18	211125	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	3.95278891491723E-4	0.254
18	211126	T	A	18	211126	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	9.40869984996977E-4	0.23
18	211126	T	C	18	211126	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	6.57515835211587E-5	0.154
18	211126	T	G	18	211126	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.48076524271183E-4	0.262
18	211127	A	C	18	211127	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.71602985543993E-5	0.114
18	211127	A	G	18	211127	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.10379404110367E-4	0.096
18	211127	A	T	18	211127	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	8.24366577158283E-5	0.122
18	211128	T	A	18	211128	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.268997845017019	0.426
18	211128	T	C	18	211128	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.00177424796054612	0.124
18	211128	T	G	18	211128	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.999852765080322	0.896
18	211129	T	A	18	211129	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	7.33515194748253E-5	0.028
18	211129	T	C	18	211129	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.44973073646494E-5	0.028
18	211129	T	G	18	211129	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.08707412523282E-4	0.04
18	211130	T	A	18	211130	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.0134412266944767	0.328
18	211130	T	C	18	211130	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	1.38640994774051E-4	0.004
18	211130	T	G	18	211130	y	y	intronic	USP14	.	.	intronic	ENSG00000101557	.	.	0.961490310128532	0.73
18	211131	A	C	18	211131	y	y	splicing	USP14(NM_005151:exon16:c.1334-2A>C;NM_001037334:exon15:c.1229-2A>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon15:c.1229-2A>C;ENST00000400266:exon15:c.1301-2A>C;ENST00000383589:exon14:c.1196-2A>C;ENST00000261601:exon16:c.1334-2A>C)	.	.	0.99994568797423	0.928
18	211131	A	G	18	211131	y	y	splicing	USP14(NM_005151:exon16:c.1334-2A>G;NM_001037334:exon15:c.1229-2A>G)	.	.	splicing	ENSG00000101557(ENST00000582707:exon15:c.1229-2A>G;ENST00000400266:exon15:c.1301-2A>G;ENST00000383589:exon14:c.1196-2A>G;ENST00000261601:exon16:c.1334-2A>G)	.	.	0.99994568797423	0.928
18	211131	A	T	18	211131	y	y	splicing	USP14(NM_005151:exon16:c.1334-2A>T;NM_001037334:exon15:c.1229-2A>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon15:c.1229-2A>T;ENST00000400266:exon15:c.1301-2A>T;ENST00000383589:exon14:c.1196-2A>T;ENST00000261601:exon16:c.1334-2A>T)	.	.	0.99994568797423	0.908
18	211132	G	A	18	211132	y	y	splicing	USP14(NM_005151:exon16:c.1334-1G>A;NM_001037334:exon15:c.1229-1G>A)	.	.	splicing	ENSG00000101557(ENST00000582707:exon15:c.1229-1G>A;ENST00000400266:exon15:c.1301-1G>A;ENST00000383589:exon14:c.1196-1G>A;ENST00000261601:exon16:c.1334-1G>A)	.	.	0.999990361384395	0.926
18	211132	G	C	18	211132	y	y	splicing	USP14(NM_005151:exon16:c.1334-1G>C;NM_001037334:exon15:c.1229-1G>C)	.	.	splicing	ENSG00000101557(ENST00000582707:exon15:c.1229-1G>C;ENST00000400266:exon15:c.1301-1G>C;ENST00000383589:exon14:c.1196-1G>C;ENST00000261601:exon16:c.1334-1G>C)	.	.	0.999990361384395	0.928
18	211132	G	T	18	211132	y	y	splicing	USP14(NM_005151:exon16:c.1334-1G>T;NM_001037334:exon15:c.1229-1G>T)	.	.	splicing	ENSG00000101557(ENST00000582707:exon15:c.1229-1G>T;ENST00000400266:exon15:c.1301-1G>T;ENST00000383589:exon14:c.1196-1G>T;ENST00000261601:exon16:c.1334-1G>T)	.	.	0.999990361384395	0.88
18	211133	A	C	18	211133	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon15:c.A1229C:p.D410A;USP14:NM_005151:exon16:c.A1334C:p.D445A;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon16:c.A1334C:p.D445A;ENSG00000101557:ENST00000582707:exon15:c.A1229C:p.D410A;ENSG00000101557:ENST00000400266:exon15:c.A1301C:p.D434A;ENSG00000101557:ENST00000383589:exon14:c.A1196C:p.D399A;	0.808071373138848	0.608
18	211133	A	G	18	211133	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon15:c.A1229G:p.D410G;USP14:NM_005151:exon16:c.A1334G:p.D445G;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon16:c.A1334G:p.D445G;ENSG00000101557:ENST00000582707:exon15:c.A1229G:p.D410G;ENSG00000101557:ENST00000400266:exon15:c.A1301G:p.D434G;ENSG00000101557:ENST00000383589:exon14:c.A1196G:p.D399G;	6.13996296367794E-4	0.02
18	211133	A	T	18	211133	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon15:c.A1229T:p.D410V;USP14:NM_005151:exon16:c.A1334T:p.D445V;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon16:c.A1334T:p.D445V;ENSG00000101557:ENST00000582707:exon15:c.A1229T:p.D410V;ENSG00000101557:ENST00000400266:exon15:c.A1301T:p.D434V;ENSG00000101557:ENST00000383589:exon14:c.A1196T:p.D399V;	0.817953549136239	0.574
18	211134	T	A	18	211134	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon15:c.T1230A:p.D410E;USP14:NM_005151:exon16:c.T1335A:p.D445E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon16:c.T1335A:p.D445E;ENSG00000101557:ENST00000582707:exon15:c.T1230A:p.D410E;ENSG00000101557:ENST00000400266:exon15:c.T1302A:p.D434E;ENSG00000101557:ENST00000383589:exon14:c.T1197A:p.D399E;	0.668413658536934	0.476
18	211134	T	C	18	211134	y	y	exonic	USP14	synonymous SNV	USP14:NM_001037334:exon15:c.T1230C:p.D410D;USP14:NM_005151:exon16:c.T1335C:p.D445D;	exonic	ENSG00000101557	synonymous SNV	ENSG00000101557:ENST00000261601:exon16:c.T1335C:p.D445D;ENSG00000101557:ENST00000582707:exon15:c.T1230C:p.D410D;ENSG00000101557:ENST00000400266:exon15:c.T1302C:p.D434D;ENSG00000101557:ENST00000383589:exon14:c.T1197C:p.D399D;	0.0388204626314581	0.246
18	211134	T	G	18	211134	y	y	exonic	USP14	nonsynonymous SNV	USP14:NM_001037334:exon15:c.T1230G:p.D410E;USP14:NM_005151:exon16:c.T1335G:p.D445E;	exonic	ENSG00000101557	nonsynonymous SNV	ENSG00000101557:ENST00000261601:exon16:c.T1335G:p.D445E;ENSG00000101557:ENST00000582707:exon15:c.T1230G:p.D410E;ENSG00000101557:ENST00000400266:exon15:c.T1302G:p.D434E;ENSG00000101557:ENST00000383589:exon14:c.T1197G:p.D399E;	0.569062278860451	0.412
18	214920	A	C	18	214920	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon21:c.T1680G:p.S560R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon21:c.T1680G:p.S560R;	1.78266521483676E-4	0.042
18	214920	A	G	18	214920	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon21:c.T1680C:p.S560S;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon21:c.T1680C:p.S560S;	2.40063699135737E-5	0.008
18	214920	A	T	18	214920	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon21:c.T1680A:p.S560R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon21:c.T1680A:p.S560R;	1.20623123480714E-4	0.002
18	214921	C	A	18	214921	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon21:c.G1679T:p.S560I;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon21:c.G1679T:p.S560I;	0.99946868200848	0.948
18	214921	C	G	18	214921	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon21:c.G1679C:p.S560T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon21:c.G1679C:p.S560T;	0.37800720864029	0.478
18	214921	C	T	18	214921	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon21:c.G1679A:p.S560N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon21:c.G1679A:p.S560N;	0.303895404232533	0.522
18	214922	C	A	18	214922	y	y	splicing	THOC1(NM_005131:exon22:c.1679-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon22:c.1679-1G>T;ENST00000580038:exon22:c.1630-1G>T)	.	.	0.999954401362567	0.814
18	214922	C	G	18	214922	y	y	splicing	THOC1(NM_005131:exon22:c.1679-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon22:c.1679-1G>C;ENST00000580038:exon22:c.1630-1G>C)	.	.	0.999954401362567	0.818
18	214922	C	T	18	214922	y	y	splicing	THOC1(NM_005131:exon22:c.1679-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon22:c.1679-1G>A;ENST00000580038:exon22:c.1630-1G>A)	.	.	0.999954401362567	0.86
18	214923	T	A	18	214923	y	y	splicing	THOC1(NM_005131:exon22:c.1679-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon22:c.1679-2A>T;ENST00000580038:exon22:c.1630-2A>T)	.	.	0.999989378869813	0.764
18	214923	T	C	18	214923	y	y	splicing	THOC1(NM_005131:exon22:c.1679-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon22:c.1679-2A>G;ENST00000580038:exon22:c.1630-2A>G)	.	.	0.999989378869813	0.758
18	214923	T	G	18	214923	y	y	splicing	THOC1(NM_005131:exon22:c.1679-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon22:c.1679-2A>C;ENST00000580038:exon22:c.1630-2A>C)	.	.	0.999989378869813	0.758
18	214924	A	C	18	214924	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.959698315562011	0.622
18	214924	A	G	18	214924	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.40482239652621E-5	0.074
18	214924	A	T	18	214924	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0205460704041481	0.234
18	214925	G	A	18	214925	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.01085973436922E-4	0.074
18	214925	G	C	18	214925	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.14946363868666E-5	0.066
18	214925	G	T	18	214925	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.09677367451279E-4	0.066
18	214926	A	C	18	214926	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00139846799271042	0.234
18	214926	A	G	18	214926	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.94485874518036E-5	0.018
18	214926	A	T	18	214926	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00139657268408714	0.204
18	214927	A	C	18	214927	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00209254307992665	0.19
18	214927	A	G	18	214927	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.28285392482944E-4	0.04
18	214927	A	T	18	214927	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00250846701777345	0.22
18	214928	A	C	18	214928	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.4436887326102E-4	0.074
18	214928	A	G	18	214928	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.40482239652621E-5	0.038
18	214928	A	T	18	214928	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.25231347155671E-4	0.074
18	214929	A	C	18	214929	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998250731113779	0.984
18	214929	A	G	18	214929	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.60166195934066E-5	0.024
18	214929	A	T	18	214929	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.02580498790725E-4	0.05
18	214930	T	A	18	214930	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.69439264402225E-5	0.0
18	214930	T	C	18	214930	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.69439264402225E-5	0.0
18	214930	T	G	18	214930	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.69439264402225E-5	0.0
18	214931	G	A	18	214931	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.12967705479703E-5	0.002
18	214931	G	C	18	214931	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.29574937617976E-5	0.014
18	214931	G	T	18	214931	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.14125603892213E-5	0.014
18	214932	A	C	18	214932	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.00547932755889E-5	0.064
18	214932	A	G	18	214932	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.77686011181531E-5	0.024
18	214932	A	T	18	214932	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.02168483888893E-4	0.132
18	214933	A	C	18	214933	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.21911209384118E-4	0.1
18	214933	A	G	18	214933	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.01488882278493E-5	0.004
18	214933	A	T	18	214933	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.31782265772702E-4	0.09
18	215421	G	A	18	215421	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.50565104975243E-5	0.004
18	215421	G	C	18	215421	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.46867310810966E-5	0.004
18	215421	G	T	18	215421	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.69188493230493E-5	0.008
18	215422	T	A	18	215422	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.63404306245738E-4	0.046
18	215422	T	C	18	215422	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.64816080589566E-5	0.01
18	215422	T	G	18	215422	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.30852315876377E-5	0.01
18	215423	T	A	18	215423	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.77346097862455E-4	0.13
18	215423	T	C	18	215423	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.77346097862455E-4	0.058
18	215423	T	G	18	215423	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.14346895757481E-4	0.058
18	215424	C	A	18	215424	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.99999247516388	0.984
18	215424	C	G	18	215424	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.99999704639688	0.97
18	215424	C	T	18	215424	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999982161219663	0.972
18	215425	T	A	18	215425	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.946986354155871	0.766
18	215425	T	C	18	215425	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.96339741955371	0.804
18	215425	T	G	18	215425	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.807128142268642	0.694
18	215426	T	A	18	215426	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998767004599348	0.882
18	215426	T	C	18	215426	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.58675058042727	0.468
18	215426	T	G	18	215426	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998602388220404	0.878
18	215427	A	C	18	215427	y	y	splicing	THOC1(NM_005131:exon21:c.1678+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1678+2T>G;ENST00000580038:exon21:c.1629+2T>G)	.	.	0.999969255906173	0.852
18	215427	A	G	18	215427	y	y	splicing	THOC1(NM_005131:exon21:c.1678+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1678+2T>C;ENST00000580038:exon21:c.1629+2T>C)	.	.	0.983580038334379	0.586
18	215427	A	T	18	215427	y	y	splicing	THOC1(NM_005131:exon21:c.1678+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1678+2T>A;ENST00000580038:exon21:c.1629+2T>A)	.	.	0.999972155025474	0.816
18	215428	C	A	18	215428	y	y	splicing	THOC1(NM_005131:exon21:c.1678+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1678+1G>T;ENST00000580038:exon21:c.1629+1G>T)	.	.	0.999969242257053	0.894
18	215428	C	G	18	215428	y	y	splicing	THOC1(NM_005131:exon21:c.1678+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1678+1G>C;ENST00000580038:exon21:c.1629+1G>C)	.	.	0.999968430223941	0.874
18	215428	C	T	18	215428	y	y	splicing	THOC1(NM_005131:exon21:c.1678+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1678+1G>A;ENST00000580038:exon21:c.1629+1G>A)	.	.	0.99996748057446	0.906
18	215429	T	A	18	215429	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.A1678T:p.S560C;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1678T:p.S560C;	0.681718990316546	0.648
18	215429	T	C	18	215429	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.A1678G:p.S560G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1678G:p.S560G;	0.0102170212523023	0.074
18	215429	T	G	18	215429	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.A1678C:p.S560R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1678C:p.S560R;	0.309058226844587	0.642
18	215430	T	A	18	215430	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.A1677T:p.E559D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1677T:p.E559D;	0.680524009354998	0.586
18	215430	T	C	18	215430	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon20:c.A1677G:p.E559E;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1677G:p.E559E;	0.426113823973275	0.43
18	215430	T	G	18	215430	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.A1677C:p.E559D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1677C:p.E559D;	0.544851224256827	0.51
18	215431	T	A	18	215431	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.A1676T:p.E559V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1676T:p.E559V;	0.848947161399461	0.592
18	215431	T	C	18	215431	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.A1676G:p.E559G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1676G:p.E559G;	0.00572874211209138	0.08
18	215431	T	G	18	215431	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.A1676C:p.E559A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.A1676C:p.E559A;	0.00561933144286059	0.016
18	215503	G	A	18	215503	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.C1604T:p.P535L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.C1604T:p.P535L;	0.0429782707896189	0.168
18	215503	G	C	18	215503	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.C1604G:p.P535R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.C1604G:p.P535R;	0.0429782707896189	0.174
18	215503	G	T	18	215503	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.C1604A:p.P535H;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.C1604A:p.P535H;	0.990732749759693	0.866
18	215504	G	A	18	215504	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.C1603T:p.P535S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.C1603T:p.P535S;	0.0618919337594229	0.22
18	215504	G	C	18	215504	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.C1603G:p.P535A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.C1603G:p.P535A;	0.0097837775082716	0.056
18	215504	G	T	18	215504	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon20:c.C1603A:p.P535T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon20:c.C1603A:p.P535T;	0.0144890812467892	0.038
18	215505	C	A	18	215505	y	y	splicing	THOC1(NM_005131:exon21:c.1603-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1603-1G>T;ENST00000580038:exon21:c.1554-1G>T)	.	.	0.999938422912956	0.93
18	215505	C	G	18	215505	y	y	splicing	THOC1(NM_005131:exon21:c.1603-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1603-1G>C;ENST00000580038:exon21:c.1554-1G>C)	.	.	0.999938422912956	0.928
18	215505	C	T	18	215505	y	y	splicing	THOC1(NM_005131:exon21:c.1603-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1603-1G>A;ENST00000580038:exon21:c.1554-1G>A)	.	.	0.999938422912956	0.928
18	215506	T	A	18	215506	y	y	splicing	THOC1(NM_005131:exon21:c.1603-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1603-2A>T;ENST00000580038:exon21:c.1554-2A>T)	.	.	0.999971317418422	0.882
18	215506	T	C	18	215506	y	y	splicing	THOC1(NM_005131:exon21:c.1603-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1603-2A>G;ENST00000580038:exon21:c.1554-2A>G)	.	.	0.999972155025474	0.87
18	215506	T	G	18	215506	y	y	splicing	THOC1(NM_005131:exon21:c.1603-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon21:c.1603-2A>C;ENST00000580038:exon21:c.1554-2A>C)	.	.	0.999972155025474	0.868
18	215507	A	C	18	215507	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.897375520108987	0.622
18	215507	A	G	18	215507	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.11184404568083E-4	0.032
18	215507	A	T	18	215507	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00772643999209179	0.184
18	215508	A	C	18	215508	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.07921124688539E-5	0.0
18	215508	A	G	18	215508	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.21147881957117E-5	0.0
18	215508	A	T	18	215508	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.23218656003649E-5	0.0
18	215509	A	C	18	215509	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.13838205383141	0.502
18	215509	A	G	18	215509	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.34329124759027E-4	0.096
18	215509	A	T	18	215509	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.130340172878955	0.49
18	215510	A	C	18	215510	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0239261436355496	0.202
18	215510	A	G	18	215510	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.67177522164999E-4	0.118
18	215510	A	T	18	215510	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0260624263701531	0.182
18	215511	A	C	18	215511	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999699811982625	0.94
18	215511	A	G	18	215511	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.86784168332526E-4	0.018
18	215511	A	T	18	215511	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.0277112571666E-4	0.142
18	215512	T	A	18	215512	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.32626888200385E-4	0.004
18	215512	T	C	18	215512	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.32626888200385E-4	0.032
18	215512	T	G	18	215512	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.61626516567896E-4	0.032
18	215513	G	A	18	215513	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.80595323877498E-5	0.07
18	215513	G	C	18	215513	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.64350651771288E-4	0.116
18	215513	G	T	18	215513	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.74272393714644E-4	0.156
18	215514	A	C	18	215514	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00174680836632942	0.188
18	215514	A	G	18	215514	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.43944635797944E-4	0.006
18	215514	A	T	18	215514	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00323960935241128	0.212
18	215515	G	A	18	215515	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.97930926640417E-5	0.04
18	215515	G	C	18	215515	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.67994543015773E-5	0.032
18	215515	G	T	18	215515	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.26806817974068E-4	0.07
18	215516	A	C	18	215516	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00103247208708568	0.142
18	215516	A	G	18	215516	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.63855046242097E-4	0.012
18	215516	A	T	18	215516	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.17070360003953E-4	0.124
18	216478	G	A	18	216478	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.38113264713725E-5	0.012
18	216478	G	C	18	216478	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.39745228803963E-5	0.006
18	216478	G	T	18	216478	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.48746024250651E-5	0.01
18	216479	T	A	18	216479	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.57312606653499E-5	0.002
18	216479	T	C	18	216479	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.36188765766749E-5	0.006
18	216479	T	G	18	216479	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.01843494861848E-5	0.006
18	216480	A	C	18	216480	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0331295234885504	0.328
18	216480	A	G	18	216480	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.340393219341699	0.492
18	216480	A	T	18	216480	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.189480428048285	0.41
18	216481	C	A	18	216481	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999590676333369	0.898
18	216481	C	G	18	216481	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999025586052618	0.854
18	216481	C	T	18	216481	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998674695671725	0.864
18	216482	T	A	18	216482	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.847101263901203	0.574
18	216482	T	C	18	216482	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.647332636909333	0.516
18	216482	T	G	18	216482	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.73263568124205	0.524
18	216483	T	A	18	216483	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.975833429460574	0.786
18	216483	T	C	18	216483	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.14153485279232	0.208
18	216483	T	G	18	216483	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.905853190182991	0.71
18	216484	A	C	18	216484	y	y	splicing	THOC1(NM_005131:exon20:c.1602+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1602+2T>G;ENST00000580038:exon20:c.1553+2T>G)	.	.	0.999988247793601	0.928
18	216484	A	G	18	216484	y	y	splicing	THOC1(NM_005131:exon20:c.1602+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1602+2T>C;ENST00000580038:exon20:c.1553+2T>C)	.	.	0.993783706747518	0.688
18	216484	A	T	18	216484	y	y	splicing	THOC1(NM_005131:exon20:c.1602+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1602+2T>A;ENST00000580038:exon20:c.1553+2T>A)	.	.	0.999988247793601	0.928
18	216485	C	A	18	216485	y	y	splicing	THOC1(NM_005131:exon20:c.1602+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1602+1G>T;ENST00000580038:exon20:c.1553+1G>T)	.	.	0.999990361384395	0.936
18	216485	C	G	18	216485	y	y	splicing	THOC1(NM_005131:exon20:c.1602+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1602+1G>C;ENST00000580038:exon20:c.1553+1G>C)	.	.	0.999990361384395	0.936
18	216485	C	T	18	216485	y	y	splicing	THOC1(NM_005131:exon20:c.1602+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1602+1G>A;ENST00000580038:exon20:c.1553+1G>A)	.	.	0.999990361384395	0.936
18	216486	C	A	18	216486	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon19:c.G1602T:p.P534P;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1602T:p.P534P;	0.931411613091408	0.698
18	216486	C	G	18	216486	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon19:c.G1602C:p.P534P;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1602C:p.P534P;	0.940315851980509	0.638
18	216486	C	T	18	216486	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon19:c.G1602A:p.P534P;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1602A:p.P534P;	0.696643560023084	0.53
18	216487	G	A	18	216487	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.C1601T:p.P534L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.C1601T:p.P534L;	0.995380577064395	0.86
18	216487	G	C	18	216487	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.C1601G:p.P534R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.C1601G:p.P534R;	0.991697682699855	0.924
18	216487	G	T	18	216487	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.C1601A:p.P534Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.C1601A:p.P534Q;	0.971377567513423	0.758
18	216488	G	A	18	216488	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.C1600T:p.P534S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.C1600T:p.P534S;	0.997373409610463	0.63
18	216488	G	C	18	216488	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.C1600G:p.P534A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.C1600G:p.P534A;	0.933677172533352	0.638
18	216488	G	T	18	216488	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.C1600A:p.P534T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.C1600A:p.P534T;	0.962742850491569	0.808
18	216632	C	A	18	216632	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.G1456T:p.A486S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1456T:p.A486S;	0.00626117752204417	0.08
18	216632	C	G	18	216632	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.G1456C:p.A486P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1456C:p.A486P;	0.973248778164805	0.882
18	216632	C	T	18	216632	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.G1456A:p.A486T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1456A:p.A486T;	0.901078857689652	0.788
18	216633	C	A	18	216633	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.G1455T:p.K485N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1455T:p.K485N;	0.991416250483641	0.702
18	216633	C	G	18	216633	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon19:c.G1455C:p.K485N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1455C:p.K485N;	0.615103282475808	0.54
18	216633	C	T	18	216633	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon19:c.G1455A:p.K485K;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon19:c.G1455A:p.K485K;	0.00987573610520861	0.182
18	216634	C	A	18	216634	y	y	splicing	THOC1(NM_005131:exon20:c.1455-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1455-1G>T;ENST00000580038:exon20:c.1406-1G>T;ENST00000579891:exon10:c.668-1G>T)	.	.	0.999990361384395	0.936
18	216634	C	G	18	216634	y	y	splicing	THOC1(NM_005131:exon20:c.1455-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1455-1G>C;ENST00000580038:exon20:c.1406-1G>C;ENST00000579891:exon10:c.668-1G>C)	.	.	0.999990361384395	0.936
18	216634	C	T	18	216634	y	y	splicing	THOC1(NM_005131:exon20:c.1455-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1455-1G>A;ENST00000580038:exon20:c.1406-1G>A;ENST00000579891:exon10:c.668-1G>A)	.	.	0.999990361384395	0.938
18	216635	T	A	18	216635	y	y	splicing	THOC1(NM_005131:exon20:c.1455-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1455-2A>T;ENST00000580038:exon20:c.1406-2A>T;ENST00000579891:exon10:c.668-2A>T)	.	.	0.999988247793601	0.896
18	216635	T	C	18	216635	y	y	splicing	THOC1(NM_005131:exon20:c.1455-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1455-2A>G;ENST00000580038:exon20:c.1406-2A>G;ENST00000579891:exon10:c.668-2A>G)	.	.	0.999988247793601	0.926
18	216635	T	G	18	216635	y	y	splicing	THOC1(NM_005131:exon20:c.1455-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon20:c.1455-2A>C;ENST00000580038:exon20:c.1406-2A>C;ENST00000579891:exon10:c.668-2A>C)	.	.	0.999988247793601	0.926
18	216636	A	C	18	216636	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999053825439415	0.712
18	216636	A	G	18	216636	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.04478392913617E-4	0.008
18	216636	A	T	18	216636	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0151318616418846	0.22
18	216637	T	A	18	216637	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.37245565093342E-5	0.004
18	216637	T	C	18	216637	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.77997589283624E-4	0.01
18	216637	T	G	18	216637	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.69790207812959E-5	0.0
18	216638	A	C	18	216638	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0217319106428098	0.202
18	216638	A	G	18	216638	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.67238794400408E-4	0.022
18	216638	A	T	18	216638	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00473001112781633	0.16
18	216639	A	C	18	216639	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.01841600505575	0.124
18	216639	A	G	18	216639	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.54368511272779E-4	0.0
18	216639	A	T	18	216639	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00368346212604514	0.086
18	216640	A	C	18	216640	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00426967544096593	0.064
18	216640	A	G	18	216640	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.91891729745301E-5	0.002
18	216640	A	T	18	216640	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0281739516594493	0.126
18	216641	A	C	18	216641	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.7574632208673E-4	0.04
18	216641	A	G	18	216641	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.52985464987563E-5	0.0
18	216641	A	T	18	216641	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00107812357579975	0.046
18	216642	A	C	18	216642	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00313763192458574	0.23
18	216642	A	G	18	216642	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.17421072621951E-4	0.03
18	216642	A	T	18	216642	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00745094860847789	0.192
18	216643	G	A	18	216643	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.74576677836749E-5	0.002
18	216643	G	C	18	216643	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.70388117570973E-4	0.048
18	216643	G	T	18	216643	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.39530905312253E-4	0.064
18	216644	A	C	18	216644	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.24085827156658E-4	0.124
18	216644	A	G	18	216644	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.3779730645735E-4	0.014
18	216644	A	T	18	216644	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00403198985871682	0.276
18	216645	G	A	18	216645	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.2026467038522E-5	0.0
18	216645	G	C	18	216645	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0020841494260109	0.056
18	216645	G	T	18	216645	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00219203995613004	0.04
18	218878	A	C	18	218878	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.9469183429777E-5	0.0
18	218878	A	G	18	218878	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.89127002094681E-5	0.0
18	218878	A	T	18	218878	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.55533203735188E-5	0.0
18	218879	T	A	18	218879	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.78890319855431E-5	0.0
18	218879	T	C	18	218879	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.53200954525579E-5	0.0
18	218879	T	G	18	218879	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.06933785449782E-5	0.0
18	218880	A	C	18	218880	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.638325314142532	0.504
18	218880	A	G	18	218880	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.685528721467551	0.45
18	218880	A	T	18	218880	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.765639058703354	0.54
18	218881	C	A	18	218881	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999983774260026	0.952
18	218881	C	G	18	218881	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999982500487986	0.944
18	218881	C	T	18	218881	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999834473394524	0.886
18	218882	T	A	18	218882	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.977200116054131	0.668
18	218882	T	C	18	218882	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.991965751138804	0.756
18	218882	T	G	18	218882	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.838004912367971	0.64
18	218883	T	A	18	218883	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.997292009671429	0.84
18	218883	T	C	18	218883	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0594489943658574	0.302
18	218883	T	G	18	218883	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999377830255679	0.85
18	218884	A	C	18	218884	y	y	splicing	THOC1(NM_005131:exon19:c.1454+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1454+2T>G;ENST00000580038:exon19:c.1405+2T>G;ENST00000579891:exon9:c.667+2T>G)	.	.	0.999969255906173	0.844
18	218884	A	G	18	218884	y	y	splicing	THOC1(NM_005131:exon19:c.1454+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1454+2T>C;ENST00000580038:exon19:c.1405+2T>C;ENST00000579891:exon9:c.667+2T>C)	.	.	0.946087814407195	0.612
18	218884	A	T	18	218884	y	y	splicing	THOC1(NM_005131:exon19:c.1454+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1454+2T>A;ENST00000580038:exon19:c.1405+2T>A;ENST00000579891:exon9:c.667+2T>A)	.	.	0.999969255906173	0.862
18	218885	C	A	18	218885	y	y	splicing	THOC1(NM_005131:exon19:c.1454+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1454+1G>T;ENST00000580038:exon19:c.1405+1G>T;ENST00000579891:exon9:c.667+1G>T)	.	.	0.99997775019564	0.9
18	218885	C	G	18	218885	y	y	splicing	THOC1(NM_005131:exon19:c.1454+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1454+1G>C;ENST00000580038:exon19:c.1405+1G>C;ENST00000579891:exon9:c.667+1G>C)	.	.	0.999977162774916	0.872
18	218885	C	T	18	218885	y	y	splicing	THOC1(NM_005131:exon19:c.1454+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1454+1G>A;ENST00000580038:exon19:c.1405+1G>A;ENST00000579891:exon9:c.667+1G>A)	.	.	0.999976475802857	0.908
18	218886	T	A	18	218886	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.A1454T:p.K485M;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.A1454T:p.K485M;	0.832587939511584	0.67
18	218886	T	C	18	218886	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.A1454G:p.K485R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.A1454G:p.K485R;	0.378854639177007	0.366
18	218886	T	G	18	218886	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.A1454C:p.K485T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.A1454C:p.K485T;	0.842381896639901	0.776
18	218887	T	A	18	218887	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon18:c.A1453T:p.K485X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon18:c.A1453T:p.K485X;	0.992342188775621	0.786
18	218887	T	C	18	218887	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.A1453G:p.K485E;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.A1453G:p.K485E;	0.994813543909904	0.856
18	218887	T	G	18	218887	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.A1453C:p.K485Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.A1453C:p.K485Q;	0.986776256645573	0.884
18	218888	A	C	18	218888	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon18:c.T1452G:p.Y484X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon18:c.T1452G:p.Y484X;	2.72671503729839E-4	0.3
18	218888	A	G	18	218888	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon18:c.T1452C:p.Y484Y;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.T1452C:p.Y484Y;	8.5176837124348E-6	0.0
18	218888	A	T	18	218888	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon18:c.T1452A:p.Y484X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon18:c.T1452A:p.Y484X;	1.61669293781912E-4	0.3
18	218968	C	A	18	218968	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon18:c.G1372T:p.E458X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon18:c.G1372T:p.E458X;	0.934316895540347	0.812
18	218968	C	G	18	218968	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.G1372C:p.E458Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.G1372C:p.E458Q;	0.935210040639366	0.638
18	218968	C	T	18	218968	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.G1372A:p.E458K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.G1372A:p.E458K;	0.922213283760845	0.45
18	218969	C	A	18	218969	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.G1371T:p.R457S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.G1371T:p.R457S;	0.951360518483597	0.786
18	218969	C	G	18	218969	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon18:c.G1371C:p.R457S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.G1371C:p.R457S;	0.645646193065655	0.7
18	218969	C	T	18	218969	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon18:c.G1371A:p.R457R;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon18:c.G1371A:p.R457R;	0.0025325872363502	0.16
18	218970	C	A	18	218970	y	y	splicing	THOC1(NM_005131:exon19:c.1371-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1371-1G>T;ENST00000580038:exon19:c.1322-1G>T;ENST00000579891:exon9:c.584-1G>T)	.	.	0.999979168129443	0.952
18	218970	C	G	18	218970	y	y	splicing	THOC1(NM_005131:exon19:c.1371-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1371-1G>C;ENST00000580038:exon19:c.1322-1G>C;ENST00000579891:exon9:c.584-1G>C)	.	.	0.999979168129443	0.952
18	218970	C	T	18	218970	y	y	splicing	THOC1(NM_005131:exon19:c.1371-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1371-1G>A;ENST00000580038:exon19:c.1322-1G>A;ENST00000579891:exon9:c.584-1G>A)	.	.	0.999960980016628	0.954
18	218971	T	A	18	218971	y	y	splicing	THOC1(NM_005131:exon19:c.1371-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1371-2A>T;ENST00000580038:exon19:c.1322-2A>T;ENST00000579891:exon9:c.584-2A>T)	.	.	0.999989408297863	0.91
18	218971	T	C	18	218971	y	y	splicing	THOC1(NM_005131:exon19:c.1371-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1371-2A>G;ENST00000580038:exon19:c.1322-2A>G;ENST00000579891:exon9:c.584-2A>G)	.	.	0.999983475715746	0.874
18	218971	T	G	18	218971	y	y	splicing	THOC1(NM_005131:exon19:c.1371-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon19:c.1371-2A>C;ENST00000580038:exon19:c.1322-2A>C;ENST00000579891:exon9:c.584-2A>C)	.	.	0.999983475715746	0.872
18	218972	G	A	18	218972	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00632989784568653	0.324
18	218972	G	C	18	218972	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999632100293945	0.732
18	218972	G	T	18	218972	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.983256764833143	0.796
18	218973	A	C	18	218973	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.3956442861532E-5	0.02
18	218973	A	G	18	218973	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.89665913150089E-5	0.02
18	218973	A	T	18	218973	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.8500019243773E-5	0.034
18	218974	G	A	18	218974	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.71229877421679E-4	0.012
18	218974	G	C	18	218974	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00500433032051386	0.102
18	218974	G	T	18	218974	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.3006074379115E-4	0.05
18	218975	C	A	18	218975	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.80659840085511E-4	0.052
18	218975	C	G	18	218975	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.15597946485699E-4	0.046
18	218975	C	T	18	218975	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.77114129048731E-5	0.004
18	218976	G	A	18	218976	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.36024290620561E-5	0.004
18	218976	G	C	18	218976	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0011212289659261	0.05
18	218976	G	T	18	218976	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998924243235322	0.966
18	218977	G	A	18	218977	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.26896728506224E-5	0.006
18	218977	G	C	18	218977	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999329291005274	0.968
18	218977	G	T	18	218977	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.23535102159607E-4	0.048
18	218978	T	A	18	218978	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00103153367911495	0.08
18	218978	T	C	18	218978	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00128695120398075	0.08
18	218978	T	G	18	218978	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.87129850351755E-4	0.086
18	218979	A	C	18	218979	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.901749714012588	0.61
18	218979	A	G	18	218979	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00311776244176726	0.09
18	218979	A	T	18	218979	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.777613367958564	0.518
18	218980	C	A	18	218980	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.67944982512943E-5	0.0
18	218980	C	G	18	218980	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.67944982512943E-5	0.002
18	218980	C	T	18	218980	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.44853866892856E-5	0.0
18	218981	A	C	18	218981	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.042796937686388	0.206
18	218981	A	G	18	218981	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.62823717273803E-5	0.05
18	218981	A	T	18	218981	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999694067187514	0.938
18	223504	C	A	18	223504	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon17:c.G1306T:p.E436X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon17:c.G1306T:p.E436X;	0.982093373116576	0.93
18	223504	C	G	18	223504	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon17:c.G1306C:p.E436Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon17:c.G1306C:p.E436Q;	0.604683373825713	0.654
18	223504	C	T	18	223504	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon17:c.G1306A:p.E436K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon17:c.G1306A:p.E436K;	0.782846018435142	0.63
18	223505	A	C	18	223505	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon17:c.T1305G:p.N435K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon17:c.T1305G:p.N435K;	0.199562833521817	0.414
18	223505	A	G	18	223505	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon17:c.T1305C:p.N435N;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon17:c.T1305C:p.N435N;	0.0120453545661601	0.032
18	223505	A	T	18	223505	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon17:c.T1305A:p.N435K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon17:c.T1305A:p.N435K;	0.461223114696474	0.516
18	223506	C	A	18	223506	y	y	splicing	THOC1(NM_005131:exon18:c.1305-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon18:c.1305-1G>T;ENST00000580038:exon18:c.1256-1G>T;ENST00000579891:exon8:c.518-1G>T)	.	.	0.999981760802075	0.938
18	223506	C	G	18	223506	y	y	splicing	THOC1(NM_005131:exon18:c.1305-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon18:c.1305-1G>C;ENST00000580038:exon18:c.1256-1G>C;ENST00000579891:exon8:c.518-1G>C)	.	.	0.999981760802075	0.938
18	223506	C	T	18	223506	y	y	splicing	THOC1(NM_005131:exon18:c.1305-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon18:c.1305-1G>A;ENST00000580038:exon18:c.1256-1G>A;ENST00000579891:exon8:c.518-1G>A)	.	.	0.999981760802075	0.938
18	223507	T	A	18	223507	y	y	splicing	THOC1(NM_005131:exon18:c.1305-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon18:c.1305-2A>T;ENST00000580038:exon18:c.1256-2A>T;ENST00000579891:exon8:c.518-2A>T)	.	.	0.999989917668626	0.928
18	223507	T	C	18	223507	y	y	splicing	THOC1(NM_005131:exon18:c.1305-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon18:c.1305-2A>G;ENST00000580038:exon18:c.1256-2A>G;ENST00000579891:exon8:c.518-2A>G)	.	.	0.999989917668626	0.928
18	223507	T	G	18	223507	y	y	splicing	THOC1(NM_005131:exon18:c.1305-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon18:c.1305-2A>C;ENST00000580038:exon18:c.1256-2A>C;ENST00000579891:exon8:c.518-2A>C)	.	.	0.999989917668626	0.928
18	223508	A	C	18	223508	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.995573862156817	0.75
18	223508	A	G	18	223508	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.73421545987226E-5	0.018
18	223508	A	T	18	223508	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0139147310924253	0.264
18	223509	C	A	18	223509	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00213724338612171	0.064
18	223509	C	G	18	223509	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.69059850037479E-4	0.002
18	223509	C	T	18	223509	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00170155407080562	0.006
18	223510	A	C	18	223510	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.994792532878	0.772
18	223510	A	G	18	223510	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0154379044021787	0.124
18	223510	A	T	18	223510	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999659288898974	0.94
18	223511	A	C	18	223511	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.728223864708339	0.518
18	223511	A	G	18	223511	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00251276209963219	0.074
18	223511	A	T	18	223511	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.961550721795993	0.556
18	223512	A	C	18	223512	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0540377731932164	0.322
18	223512	A	G	18	223512	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.32788833968468E-4	0.022
18	223512	A	T	18	223512	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.128777346987224	0.338
18	223513	A	C	18	223513	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999873612802789	0.956
18	223513	A	G	18	223513	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.17013153521671E-5	0.012
18	223513	A	T	18	223513	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00817960476006917	0.306
18	223514	T	A	18	223514	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.1390795617917E-5	0.002
18	223514	T	C	18	223514	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.19114798027339E-5	0.0
18	223514	T	G	18	223514	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.60272717749129E-5	0.002
18	223515	A	C	18	223515	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0119534263165985	0.366
18	223515	A	G	18	223515	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00161745910757956	0.092
18	223515	A	T	18	223515	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.012180703412223	0.364
18	223516	G	A	18	223516	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.68699689204353E-5	0.0
18	223516	G	C	18	223516	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.48743398249344E-4	0.06
18	223516	G	T	18	223516	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00736803950712693	0.094
18	223517	A	C	18	223517	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.446708712074685	0.45
18	223517	A	G	18	223517	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.10798252359496E-4	0.022
18	223517	A	T	18	223517	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.603107480275015	0.436
18	224076	T	A	18	224076	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00682331152423814	0.016
18	224076	T	C	18	224076	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00407112539922979	0.01
18	224076	T	G	18	224076	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00253420413158486	0.004
18	224077	C	A	18	224077	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.71349520270792E-5	0.0
18	224077	C	G	18	224077	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.71349520270792E-5	0.0
18	224077	C	T	18	224077	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.98979102018891E-4	0.02
18	224078	A	C	18	224078	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.995801949211283	0.806
18	224078	A	G	18	224078	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.910077991709794	0.612
18	224078	A	T	18	224078	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.992008513796416	0.69
18	224079	C	A	18	224079	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999959666355392	0.98
18	224079	C	G	18	224079	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999967043964208	0.994
18	224079	C	T	18	224079	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999959666355392	1.0
18	224080	C	A	18	224080	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.26735692831268E-5	0.03
18	224080	C	G	18	224080	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.26735692831268E-5	0.048
18	224080	C	T	18	224080	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.84520904580494E-4	0.07
18	224081	T	A	18	224081	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999518772265134	0.964
18	224081	T	C	18	224081	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998744336535826	0.972
18	224081	T	G	18	224081	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999899516270574	0.976
18	224082	A	C	18	224082	y	y	splicing	THOC1(NM_005131:exon17:c.1304+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon17:c.1304+2T>G;ENST00000580038:exon17:c.1255+2T>G;ENST00000579891:exon7:c.517+2T>G)	.	.	0.999986741007567	0.944
18	224082	A	G	18	224082	y	y	splicing	THOC1(NM_005131:exon17:c.1304+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon17:c.1304+2T>C;ENST00000580038:exon17:c.1255+2T>C;ENST00000579891:exon7:c.517+2T>C)	.	.	0.993064224323837	0.666
18	224082	A	T	18	224082	y	y	splicing	THOC1(NM_005131:exon17:c.1304+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon17:c.1304+2T>A;ENST00000580038:exon17:c.1255+2T>A;ENST00000579891:exon7:c.517+2T>A)	.	.	0.999986741007567	0.944
18	224083	C	A	18	224083	y	y	splicing	THOC1(NM_005131:exon17:c.1304+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon17:c.1304+1G>T;ENST00000580038:exon17:c.1255+1G>T;ENST00000579891:exon7:c.517+1G>T)	.	.	0.999987670894945	0.94
18	224083	C	G	18	224083	y	y	splicing	THOC1(NM_005131:exon17:c.1304+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon17:c.1304+1G>C;ENST00000580038:exon17:c.1255+1G>C;ENST00000579891:exon7:c.517+1G>C)	.	.	0.999987670894945	0.94
18	224083	C	T	18	224083	y	y	splicing	THOC1(NM_005131:exon17:c.1304+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon17:c.1304+1G>A;ENST00000580038:exon17:c.1255+1G>A;ENST00000579891:exon7:c.517+1G>A)	.	.	0.999987670894945	0.94
18	224084	T	A	18	224084	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1304T:p.N435I;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1304T:p.N435I;	0.900082762615287	0.554
18	224084	T	C	18	224084	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1304G:p.N435S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1304G:p.N435S;	0.278401199991196	0.256
18	224084	T	G	18	224084	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1304C:p.N435T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1304C:p.N435T;	0.551217391286448	0.656
18	224085	T	A	18	224085	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1303T:p.N435Y;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1303T:p.N435Y;	0.999967619857796	1.0
18	224085	T	C	18	224085	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1303G:p.N435D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1303G:p.N435D;	0.999937186727341	0.994
18	224085	T	G	18	224085	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1303C:p.N435H;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1303C:p.N435H;	0.999912777110053	0.966
18	224086	T	A	18	224086	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon16:c.A1302T:p.G434G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1302T:p.G434G;	0.770367778462495	0.648
18	224086	T	C	18	224086	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon16:c.A1302G:p.G434G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1302G:p.G434G;	0.00266556374334775	0.148
18	224086	T	G	18	224086	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon16:c.A1302C:p.G434G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1302C:p.G434G;	1.9173121442996E-4	0.06
18	224178	T	A	18	224178	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1210T:p.T404S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1210T:p.T404S;	1.44365440139155E-5	0.0
18	224178	T	C	18	224178	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1210G:p.T404A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1210G:p.T404A;	3.28114356433112E-5	0.014
18	224178	T	G	18	224178	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1210C:p.T404P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1210C:p.T404P;	4.32894788251275E-5	0.0
18	224179	T	A	18	224179	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1209T:p.R403S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1209T:p.R403S;	0.00881558351346548	0.164
18	224179	T	C	18	224179	y	n	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon16:c.A1209G:p.R403R;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1209G:p.R403R;	1.66313869651852E-4	0.0
18	224179	T	G	18	224179	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon16:c.A1209C:p.R403S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon16:c.A1209C:p.R403S;	0.00437193612940105	0.12
18	224180	C	A	18	224180	y	n	splicing	THOC1(NM_005131:exon17:c.1209-1G>T)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon17:c.1209-1G>T;ENST00000580038:exon17:c.1160-1G>T)	unknown	UNKNOWN	0.999966350375045	0.794
18	224180	C	G	18	224180	y	n	splicing	THOC1(NM_005131:exon17:c.1209-1G>C)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon17:c.1209-1G>C;ENST00000580038:exon17:c.1160-1G>C)	unknown	UNKNOWN	0.999966350375045	0.764
18	224180	C	T	18	224180	y	n	splicing	THOC1(NM_005131:exon17:c.1209-1G>A)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon17:c.1209-1G>A;ENST00000580038:exon17:c.1160-1G>A)	unknown	UNKNOWN	0.999966350375045	0.81
18	224181	T	A	18	224181	y	n	splicing	THOC1(NM_005131:exon17:c.1209-2A>T)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon17:c.1209-2A>T;ENST00000580038:exon17:c.1160-2A>T)	unknown	UNKNOWN	0.999946292615502	0.76
18	224181	T	C	18	224181	y	n	splicing	THOC1(NM_005131:exon17:c.1209-2A>G)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon17:c.1209-2A>G;ENST00000580038:exon17:c.1160-2A>G)	unknown	UNKNOWN	0.999957564426924	0.776
18	224181	T	G	18	224181	y	n	splicing	THOC1(NM_005131:exon17:c.1209-2A>C)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon17:c.1209-2A>C;ENST00000580038:exon17:c.1160-2A>C)	unknown	UNKNOWN	0.999957564426924	0.776
18	224182	G	A	18	224182	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.00140733309824233	0.082
18	224182	G	C	18	224182	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.999481248191683	0.886
18	224182	G	T	18	224182	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.996208335959074	0.838
18	224183	T	A	18	224183	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.00124220603053517	0.02
18	224183	T	C	18	224183	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	4.10377224102116E-4	0.034
18	224183	T	G	18	224183	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	2.10543174926101E-4	0.032
18	224184	C	A	18	224184	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	2.78208203755676E-5	0.004
18	224184	C	G	18	224184	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	4.29183704580163E-5	0.002
18	224184	C	T	18	224184	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.04325323905237E-4	0.002
18	224185	G	A	18	224185	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	5.05672066596201E-5	0.002
18	224185	G	C	18	224185	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.999698981980693	0.958
18	224185	G	T	18	224185	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.999824352044244	0.966
18	224186	T	A	18	224186	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	8.90813729714799E-5	0.002
18	224186	T	C	18	224186	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	5.40447878472689E-5	0.006
18	224186	T	G	18	224186	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.05636377339486E-4	0.012
18	224187	G	A	18	224187	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	3.58718233495165E-5	0.004
18	224187	G	C	18	224187	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.00189170742043772	0.038
18	224187	G	T	18	224187	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	3.82371961139416E-4	0.038
18	224188	A	C	18	224188	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.00950651636699493	0.23
18	224188	A	G	18	224188	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	8.96632477733107E-4	0.044
18	224188	A	T	18	224188	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.753800951813889	0.486
18	224189	A	C	18	224189	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.851158588443679	0.648
18	224189	A	G	18	224189	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.00938454702448645	0.194
18	224189	A	T	18	224189	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.180426584344253	0.55
18	224190	C	A	18	224190	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.11384937843606E-5	0.014
18	224190	C	G	18	224190	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.11384937843606E-5	0.014
18	224190	C	T	18	224190	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.6122951804099E-5	0.012
18	224191	A	C	18	224191	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.925106961659728	0.818
18	224191	A	G	18	224191	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.00261177281434248	0.1
18	224191	A	T	18	224191	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.999970418224938	0.992
18	224199	C	A	18	224199	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	2.99881253190637E-5	0.0
18	224199	C	G	18	224199	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	2.78389654127837E-5	0.0
18	224199	C	T	18	224199	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	2.78389654127837E-5	0.0
18	224200	A	C	18	224200	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.68257469420141E-4	0.016
18	224200	A	G	18	224200	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.51038555408656E-5	0.0
18	224200	A	T	18	224200	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.83659262393073E-4	0.008
18	224201	C	A	18	224201	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000579891:exon7:c.401-1G>T)	.	.	6.38113264713725E-5	0.006
18	224201	C	G	18	224201	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000579891:exon7:c.401-1G>C)	.	.	8.53292460361593E-5	0.012
18	224201	C	T	18	224201	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000579891:exon7:c.401-1G>A)	.	.	6.38113264713725E-5	0.004
18	224202	T	A	18	224202	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000579891:exon7:c.401-2A>T)	.	.	0.00205701415597644	0.088
18	224202	T	C	18	224202	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000579891:exon7:c.401-2A>G)	.	.	0.00173558116638896	0.08
18	224202	T	G	18	224202	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000579891:exon7:c.401-2A>C)	.	.	0.00173558116638896	0.08
18	224203	A	C	18	224203	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.36340088948343E-5	0.006
18	224203	A	G	18	224203	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.36340088948343E-5	0.006
18	224203	A	T	18	224203	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.7586829694842E-5	0.01
18	224204	T	A	18	224204	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.1020973109669E-5	0.0
18	224204	T	C	18	224204	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.256915070725E-5	0.0
18	224204	T	G	18	224204	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.256915070725E-5	0.0
18	224205	T	A	18	224205	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.85096237301136E-5	0.004
18	224205	T	C	18	224205	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.06407420733308E-4	0.004
18	224205	T	G	18	224205	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.06407420733308E-4	0.004
18	224206	T	A	18	224206	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.1020973109669E-5	0.0
18	224206	T	C	18	224206	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.256915070725E-5	0.0
18	224206	T	G	18	224206	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.256915070725E-5	0.0
18	224207	T	A	18	224207	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.48762545625338E-4	0.066
18	224207	T	C	18	224207	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.48762545625338E-4	0.066
18	224207	T	G	18	224207	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.48762545625338E-4	0.066
18	224208	T	A	18	224208	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.82827935381688E-5	0.0
18	224208	T	C	18	224208	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.82827935381688E-5	0.002
18	224208	T	G	18	224208	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.82827935381688E-5	0.002
18	224209	T	A	18	224209	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.21133756078422E-5	0.0
18	224209	T	C	18	224209	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.93008933363103E-5	0.0
18	224209	T	G	18	224209	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.93008933363103E-5	0.0
18	224210	G	A	18	224210	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.81050447486223E-4	0.032
18	224210	G	C	18	224210	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.71819796559124E-4	0.038
18	224210	G	T	18	224210	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.71819796559124E-4	0.008
18	224211	A	C	18	224211	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.33815804894828E-5	0.0
18	224211	A	G	18	224211	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.27477746119029E-5	0.0
18	224211	A	T	18	224211	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.27477746119029E-5	0.0
18	224212	A	C	18	224212	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.22025199828459E-4	0.0
18	224212	A	G	18	224212	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.22025199828459E-4	0.0
18	224212	A	T	18	224212	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.22025199828459E-4	0.0
18	224916	G	A	18	224916	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.11303728117657E-5	0.0
18	224916	G	C	18	224916	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.12565753200303E-5	0.0
18	224916	G	T	18	224916	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.07508928455348E-5	0.0
18	224917	T	A	18	224917	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.41820354886185E-5	0.0
18	224917	T	C	18	224917	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.70961446097597E-5	0.0
18	224917	T	G	18	224917	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.68195518907782E-5	0.0
18	224918	A	C	18	224918	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.21256738663823E-4	0.062
18	224918	A	G	18	224918	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.70478481790422E-4	0.114
18	224918	A	T	18	224918	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.59350718679427E-4	0.082
18	224919	T	A	18	224919	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.10717031676865E-5	0.006
18	224919	T	C	18	224919	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.79020795405476E-5	0.014
18	224919	T	G	18	224919	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.86956117388658E-5	0.022
18	224920	T	A	18	224920	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.466791180225165	0.45
18	224920	T	C	18	224920	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.527691547079777	0.498
18	224920	T	G	18	224920	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.319805898908288	0.436
18	224921	T	A	18	224921	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999201865214667	0.862
18	224921	T	C	18	224921	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.961119723657501	0.682
18	224921	T	G	18	224921	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999322598388327	0.884
18	224922	A	C	18	224922	y	y	splicing	THOC1(NM_005131:exon16:c.1208+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1208+2T>G;ENST00000580038:exon16:c.1159+2T>G;ENST00000579891:exon6:c.400+2T>G)	.	.	0.999973797981287	0.938
18	224922	A	G	18	224922	y	y	splicing	THOC1(NM_005131:exon16:c.1208+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1208+2T>C;ENST00000580038:exon16:c.1159+2T>C;ENST00000579891:exon6:c.400+2T>C)	.	.	0.975808042224266	0.61
18	224922	A	T	18	224922	y	y	splicing	THOC1(NM_005131:exon16:c.1208+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1208+2T>A;ENST00000580038:exon16:c.1159+2T>A;ENST00000579891:exon6:c.400+2T>A)	.	.	0.999973797981287	0.93
18	224923	C	A	18	224923	y	y	splicing	THOC1(NM_005131:exon16:c.1208+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1208+1G>T;ENST00000580038:exon16:c.1159+1G>T;ENST00000579891:exon6:c.400+1G>T)	.	.	0.999957892535058	0.936
18	224923	C	G	18	224923	y	y	splicing	THOC1(NM_005131:exon16:c.1208+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1208+1G>C;ENST00000580038:exon16:c.1159+1G>C;ENST00000579891:exon6:c.400+1G>C)	.	.	0.999957892535058	0.936
18	224923	C	T	18	224923	y	y	splicing	THOC1(NM_005131:exon16:c.1208+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1208+1G>A;ENST00000580038:exon16:c.1159+1G>A;ENST00000579891:exon6:c.400+1G>A)	.	.	0.999957892535058	0.934
18	224924	C	A	18	224924	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.G1208T:p.R403I;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.G1208T:p.R403I;	0.999937566168814	0.964
18	224924	C	G	18	224924	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.G1208C:p.R403T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.G1208C:p.R403T;	0.999990220934006	0.98
18	224924	C	T	18	224924	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.G1208A:p.R403K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.G1208A:p.R403K;	0.999258617964242	0.95
18	224925	T	A	18	224925	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon15:c.A1207T:p.R403X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon15:c.A1207T:p.R403X;	0.937229846481054	0.65
18	224925	T	C	18	224925	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.A1207G:p.R403G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.A1207G:p.R403G;	0.690979217143671	0.61
18	224925	T	G	18	224925	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon15:c.A1207C:p.R403R;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.A1207C:p.R403R;	0.191777952353371	0.386
18	224926	T	A	18	224926	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.A1206T:p.E402D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.A1206T:p.E402D;	0.0368676386765582	0.276
18	224926	T	C	18	224926	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon15:c.A1206G:p.E402E;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.A1206G:p.E402E;	5.577737996529E-4	0.028
18	224926	T	G	18	224926	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.A1206C:p.E402D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.A1206C:p.E402D;	3.03401838748074E-4	0.01
18	224993	T	A	18	224993	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.A1139T:p.H380L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.A1139T:p.H380L;	0.0142673879353282	0.15
18	224993	T	C	18	224993	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.A1139G:p.H380R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.A1139G:p.H380R;	0.00392912422453079	0.106
18	224993	T	G	18	224993	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.A1139C:p.H380P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.A1139C:p.H380P;	0.174589825376223	0.318
18	224994	G	A	18	224994	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.C1138T:p.H380Y;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.C1138T:p.H380Y;	0.995840350219859	0.94
18	224994	G	C	18	224994	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.C1138G:p.H380D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.C1138G:p.H380D;	0.971019211436105	0.708
18	224994	G	T	18	224994	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon15:c.C1138A:p.H380N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon15:c.C1138A:p.H380N;	0.865354098225515	0.626
18	224995	C	A	18	224995	y	y	splicing	THOC1(NM_005131:exon16:c.1138-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1138-1G>T;ENST00000580038:exon16:c.1089-1G>T;ENST00000579891:exon6:c.330-1G>T)	.	.	0.999989125585301	0.944
18	224995	C	G	18	224995	y	y	splicing	THOC1(NM_005131:exon16:c.1138-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1138-1G>C;ENST00000580038:exon16:c.1089-1G>C;ENST00000579891:exon6:c.330-1G>C)	.	.	0.999989125585301	0.944
18	224995	C	T	18	224995	y	y	splicing	THOC1(NM_005131:exon16:c.1138-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1138-1G>A;ENST00000580038:exon16:c.1089-1G>A;ENST00000579891:exon6:c.330-1G>A)	.	.	0.999989125585301	0.944
18	224996	T	A	18	224996	y	y	splicing	THOC1(NM_005131:exon16:c.1138-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1138-2A>T;ENST00000580038:exon16:c.1089-2A>T;ENST00000579891:exon6:c.330-2A>T)	.	.	0.999986741007567	0.942
18	224996	T	C	18	224996	y	y	splicing	THOC1(NM_005131:exon16:c.1138-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1138-2A>G;ENST00000580038:exon16:c.1089-2A>G;ENST00000579891:exon6:c.330-2A>G)	.	.	0.999986741007567	0.942
18	224996	T	G	18	224996	y	y	splicing	THOC1(NM_005131:exon16:c.1138-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon16:c.1138-2A>C;ENST00000580038:exon16:c.1089-2A>C;ENST00000579891:exon6:c.330-2A>C)	.	.	0.999986741007567	0.942
18	224997	G	A	18	224997	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.29929070611324E-4	0.154
18	224997	G	C	18	224997	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.995868149571947	0.88
18	224997	G	T	18	224997	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.509807131328663	0.568
18	224998	G	A	18	224998	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.0692633342278E-5	0.002
18	224998	G	C	18	224998	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.28039505535426E-6	0.004
18	224998	G	T	18	224998	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.05081475405499E-5	0.004
18	224999	G	A	18	224999	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.44317558490979E-5	0.074
18	224999	G	C	18	224999	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.92898907349618E-4	0.18
18	224999	G	T	18	224999	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.13512827028408E-4	0.1
18	225000	A	C	18	225000	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00351897629536976	0.192
18	225000	A	G	18	225000	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.71408791368895E-5	0.02
18	225000	A	T	18	225000	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00476632418921547	0.116
18	225001	A	C	18	225001	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00123903205863667	0.068
18	225001	A	G	18	225001	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.59162830973808E-5	0.016
18	225001	A	T	18	225001	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00448905314298959	0.098
18	225002	A	C	18	225002	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00769203711416183	0.24
18	225002	A	G	18	225002	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00299128958840299	0.108
18	225002	A	T	18	225002	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.016658366677867	0.348
18	225003	A	C	18	225003	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0173183401889524	0.332
18	225003	A	G	18	225003	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00199540061444958	0.18
18	225003	A	T	18	225003	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0489512790492915	0.342
18	225004	A	C	18	225004	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00191309370441709	0.12
18	225004	A	G	18	225004	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.08539218555498E-4	0.074
18	225004	A	T	18	225004	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00106985378424643	0.142
18	225005	C	A	18	225005	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.44752212859837E-5	0.054
18	225005	C	G	18	225005	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.673772622866E-5	0.04
18	225005	C	T	18	225005	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.6939730291604E-5	0.068
18	225006	A	C	18	225006	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00119985014259475	0.108
18	225006	A	G	18	225006	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.23765311311681E-4	0.046
18	225006	A	T	18	225006	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998381293258496	0.818
18	225081	A	C	18	225081	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.19479803553351E-5	0.018
18	225081	A	G	18	225081	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.17982546343499E-5	0.016
18	225081	A	T	18	225081	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.17982546343499E-5	0.018
18	225082	C	A	18	225082	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.09557440540112E-5	0.032
18	225082	C	G	18	225082	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.89241696260584E-5	0.03
18	225082	C	T	18	225082	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.89241696260584E-5	0.032
18	225083	A	C	18	225083	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0778064632479844	0.35
18	225083	A	G	18	225083	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.18328571726054	0.388
18	225083	A	T	18	225083	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.159404697004268	0.39
18	225084	C	A	18	225084	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.905574338308602	0.438
18	225084	C	G	18	225084	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.994855846170704	0.514
18	225084	C	T	18	225084	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.926080729680006	0.38
18	225085	A	C	18	225085	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.98732715678853E-5	0.002
18	225085	A	G	18	225085	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.62480797277398E-5	0.006
18	225085	A	T	18	225085	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.75569348522204E-5	0.02
18	225086	T	A	18	225086	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.992083314778071	0.856
18	225086	T	C	18	225086	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.929047730218277	0.664
18	225086	T	G	18	225086	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999007984449952	0.88
18	225087	A	C	18	225087	y	y	splicing	THOC1(NM_005131:exon15:c.1137+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1137+2T>G;ENST00000580038:exon15:c.1088+2T>G;ENST00000579891:exon5:c.329+2T>G)	.	.	0.999978952611685	0.93
18	225087	A	G	18	225087	y	y	splicing	THOC1(NM_005131:exon15:c.1137+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1137+2T>C;ENST00000580038:exon15:c.1088+2T>C;ENST00000579891:exon5:c.329+2T>C)	.	.	0.995129453569863	0.686
18	225087	A	T	18	225087	y	y	splicing	THOC1(NM_005131:exon15:c.1137+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1137+2T>A;ENST00000580038:exon15:c.1088+2T>A;ENST00000579891:exon5:c.329+2T>A)	.	.	0.999978952611685	0.928
18	225088	C	A	18	225088	y	y	splicing	THOC1(NM_005131:exon15:c.1137+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1137+1G>T;ENST00000580038:exon15:c.1088+1G>T;ENST00000579891:exon5:c.329+1G>T)	.	.	0.999990361384395	0.936
18	225088	C	G	18	225088	y	y	splicing	THOC1(NM_005131:exon15:c.1137+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1137+1G>C;ENST00000580038:exon15:c.1088+1G>C;ENST00000579891:exon5:c.329+1G>C)	.	.	0.999990361384395	0.936
18	225088	C	T	18	225088	y	y	splicing	THOC1(NM_005131:exon15:c.1137+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1137+1G>A;ENST00000580038:exon15:c.1088+1G>A;ENST00000579891:exon5:c.329+1G>A)	.	.	0.999990361384395	0.936
18	225089	C	A	18	225089	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.G1137T:p.E379D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.G1137T:p.E379D;	0.999980048017446	0.976
18	225089	C	G	18	225089	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.G1137C:p.E379D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.G1137C:p.E379D;	0.999977277661628	0.98
18	225089	C	T	18	225089	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon14:c.G1137A:p.E379E;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.G1137A:p.E379E;	0.999719424124657	0.928
18	225090	T	A	18	225090	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.A1136T:p.E379V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.A1136T:p.E379V;	0.99951761686569	0.99
18	225090	T	C	18	225090	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.A1136G:p.E379G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.A1136G:p.E379G;	0.999675283801594	0.996
18	225090	T	G	18	225090	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.A1136C:p.E379A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.A1136C:p.E379A;	0.989106757422267	0.904
18	225091	C	A	18	225091	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon14:c.G1135T:p.E379X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon14:c.G1135T:p.E379X;	0.98465128869272	0.852
18	225091	C	G	18	225091	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.G1135C:p.E379Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.G1135C:p.E379Q;	0.762529329628207	0.606
18	225091	C	T	18	225091	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.G1135A:p.E379K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.G1135A:p.E379K;	0.00997898745744089	0.08
18	225138	A	C	18	225138	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.T1088G:p.L363R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.T1088G:p.L363R;	0.905018543916265	0.498
18	225138	A	G	18	225138	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.T1088C:p.L363P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.T1088C:p.L363P;	0.926516693759674	0.504
18	225138	A	T	18	225138	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.T1088A:p.L363Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.T1088A:p.L363Q;	0.9229913608389	0.512
18	225139	G	A	18	225139	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon14:c.C1087T:p.L363L;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.C1087T:p.L363L;	0.00628982904848512	0.21
18	225139	G	C	18	225139	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.C1087G:p.L363V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.C1087G:p.L363V;	0.0472320933552539	0.242
18	225139	G	T	18	225139	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon14:c.C1087A:p.L363I;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon14:c.C1087A:p.L363I;	0.406290563586009	0.454
18	225140	C	A	18	225140	y	y	splicing	THOC1(NM_005131:exon15:c.1087-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1087-1G>T;ENST00000580038:exon15:c.1038-1G>T;ENST00000579891:exon5:c.279-1G>T)	.	.	0.99997775019564	0.892
18	225140	C	G	18	225140	y	y	splicing	THOC1(NM_005131:exon15:c.1087-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1087-1G>C;ENST00000580038:exon15:c.1038-1G>C;ENST00000579891:exon5:c.279-1G>C)	.	.	0.999977162774916	0.866
18	225140	C	T	18	225140	y	y	splicing	THOC1(NM_005131:exon15:c.1087-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1087-1G>A;ENST00000580038:exon15:c.1038-1G>A;ENST00000579891:exon5:c.279-1G>A)	.	.	0.999976475802857	0.9
18	225141	T	A	18	225141	y	y	splicing	THOC1(NM_005131:exon15:c.1087-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1087-2A>T;ENST00000580038:exon15:c.1038-2A>T;ENST00000579891:exon5:c.279-2A>T)	.	.	0.999962958601995	0.834
18	225141	T	C	18	225141	y	y	splicing	THOC1(NM_005131:exon15:c.1087-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1087-2A>G;ENST00000580038:exon15:c.1038-2A>G;ENST00000579891:exon5:c.279-2A>G)	.	.	0.999962958601995	0.798
18	225141	T	G	18	225141	y	y	splicing	THOC1(NM_005131:exon15:c.1087-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon15:c.1087-2A>C;ENST00000580038:exon15:c.1038-2A>C;ENST00000579891:exon5:c.279-2A>C)	.	.	0.999962958601995	0.798
18	225142	G	A	18	225142	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0275738447970041	0.122
18	225142	G	C	18	225142	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.99982997946859	0.83
18	225142	G	T	18	225142	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999544031518053	0.754
18	225143	T	A	18	225143	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.77314631903638E-4	0.062
18	225143	T	C	18	225143	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00305276534113759	0.12
18	225143	T	G	18	225143	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.89003004991779E-4	0.116
18	225144	G	A	18	225144	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00101042650149206	0.07
18	225144	G	C	18	225144	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0284191395872426	0.288
18	225144	G	T	18	225144	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0284191395872426	0.278
18	225145	A	C	18	225145	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999969290949288	0.948
18	225145	A	G	18	225145	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00136051535593362	0.084
18	225145	A	T	18	225145	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.634982738235384	0.416
18	225146	T	A	18	225146	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.14082204865278E-4	0.042
18	225146	T	C	18	225146	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998388943608485	0.874
18	225146	T	G	18	225146	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.53350230550347E-4	0.042
18	225147	T	A	18	225147	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.35134088191808E-4	0.016
18	225147	T	C	18	225147	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.33695132198145E-4	0.024
18	225147	T	G	18	225147	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.48732382142849E-4	0.032
18	225148	A	C	18	225148	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.317815428992145	0.51
18	225148	A	G	18	225148	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00152435759498773	0.094
18	225148	A	T	18	225148	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.381803114191463	0.508
18	225149	G	A	18	225149	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00182555123975469	0.066
18	225149	G	C	18	225149	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.423515635130288	0.368
18	225149	G	T	18	225149	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.28917749558694	0.36
18	225150	A	C	18	225150	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.878094684093947	0.57
18	225150	A	G	18	225150	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.109272222317765	0.248
18	225150	A	T	18	225150	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.974559500883039	0.668
18	225151	A	C	18	225151	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.318425087060553	0.556
18	225151	A	G	18	225151	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0116844196765321	0.092
18	225151	A	T	18	225151	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.737860299128135	0.634
18	225329	G	A	18	225329	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0136543411502605	0.104
18	225329	G	C	18	225329	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0243156145864903	0.094
18	225329	G	T	18	225329	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0241518379050104	0.098
18	225330	A	C	18	225330	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.42663483697088E-4	0.014
18	225330	A	G	18	225330	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.42663483697088E-4	0.008
18	225330	A	T	18	225330	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.18178193740577E-4	0.004
18	225331	A	C	18	225331	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.723995014849617	0.706
18	225331	A	G	18	225331	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.85423590588777	0.862
18	225331	A	T	18	225331	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.917248063501895	0.782
18	225332	C	A	18	225332	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999194647392567	0.864
18	225332	C	G	18	225332	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999352498689038	0.884
18	225332	C	T	18	225332	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.997419640888821	0.95
18	225333	T	A	18	225333	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.987460636478741	0.796
18	225333	T	C	18	225333	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.97874440305847	0.786
18	225333	T	G	18	225333	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.973369594113556	0.736
18	225334	T	A	18	225334	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.994906768728939	0.902
18	225334	T	C	18	225334	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.776773201269487	0.408
18	225334	T	G	18	225334	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999407679091439	0.874
18	225335	A	C	18	225335	y	y	splicing	THOC1(NM_005131:exon14:c.1086+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1086+2T>G;ENST00000580038:exon14:c.1037+2T>G;ENST00000579891:exon4:c.278+2T>G)	.	.	0.999986607513753	0.92
18	225335	A	G	18	225335	y	y	splicing	THOC1(NM_005131:exon14:c.1086+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1086+2T>C;ENST00000580038:exon14:c.1037+2T>C;ENST00000579891:exon4:c.278+2T>C)	.	.	0.989722594634724	0.572
18	225335	A	T	18	225335	y	y	splicing	THOC1(NM_005131:exon14:c.1086+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1086+2T>A;ENST00000580038:exon14:c.1037+2T>A;ENST00000579891:exon4:c.278+2T>A)	.	.	0.999986607513753	0.92
18	225336	C	A	18	225336	y	y	splicing	THOC1(NM_005131:exon14:c.1086+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1086+1G>T;ENST00000580038:exon14:c.1037+1G>T;ENST00000579891:exon4:c.278+1G>T)	.	.	0.999990361384395	0.938
18	225336	C	G	18	225336	y	y	splicing	THOC1(NM_005131:exon14:c.1086+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1086+1G>C;ENST00000580038:exon14:c.1037+1G>C;ENST00000579891:exon4:c.278+1G>C)	.	.	0.999990361384395	0.938
18	225336	C	T	18	225336	y	y	splicing	THOC1(NM_005131:exon14:c.1086+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1086+1G>A;ENST00000580038:exon14:c.1037+1G>A;ENST00000579891:exon4:c.278+1G>A)	.	.	0.999990361384395	0.938
18	225337	T	A	18	225337	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.A1086T:p.Q362H;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.A1086T:p.Q362H;	0.0461431925638259	0.192
18	225337	T	C	18	225337	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon13:c.A1086G:p.Q362Q;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.A1086G:p.Q362Q;	3.34503491857267E-4	0.072
18	225337	T	G	18	225337	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.A1086C:p.Q362H;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.A1086C:p.Q362H;	0.0293358557542024	0.218
18	225338	T	A	18	225338	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.A1085T:p.Q362L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.A1085T:p.Q362L;	0.593258725668997	0.692
18	225338	T	C	18	225338	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.A1085G:p.Q362R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.A1085G:p.Q362R;	0.738124845985383	0.682
18	225338	T	G	18	225338	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.A1085C:p.Q362P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.A1085C:p.Q362P;	0.690053890094055	0.718
18	225339	G	A	18	225339	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon13:c.C1084T:p.Q362X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon13:c.C1084T:p.Q362X;	0.999166788175377	0.938
18	225339	G	C	18	225339	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.C1084G:p.Q362E;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.C1084G:p.Q362E;	0.911951512959587	0.624
18	225339	G	T	18	225339	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.C1084A:p.Q362K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.C1084A:p.Q362K;	0.00695928634076717	0.142
18	225402	A	C	18	225402	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.T1021G:p.S341A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.T1021G:p.S341A;	0.740123739584843	0.366
18	225402	A	G	18	225402	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.T1021C:p.S341P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.T1021C:p.S341P;	0.280708313470018	0.36
18	225402	A	T	18	225402	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.T1021A:p.S341T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.T1021A:p.S341T;	0.696525781530279	0.464
18	225403	A	C	18	225403	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.T1020G:p.S340R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.T1020G:p.S340R;	4.32353882379986E-4	0.094
18	225403	A	G	18	225403	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon13:c.T1020C:p.S340S;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.T1020C:p.S340S;	0.00163897239310272	0.016
18	225403	A	T	18	225403	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon13:c.T1020A:p.S340R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon13:c.T1020A:p.S340R;	8.05934489386944E-4	0.052
18	225404	C	A	18	225404	y	y	splicing	THOC1(NM_005131:exon14:c.1020-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1020-1G>T;ENST00000580038:exon14:c.971-1G>T;ENST00000579891:exon4:c.212-1G>T)	.	.	0.999990361384395	0.936
18	225404	C	G	18	225404	y	y	splicing	THOC1(NM_005131:exon14:c.1020-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1020-1G>C;ENST00000580038:exon14:c.971-1G>C;ENST00000579891:exon4:c.212-1G>C)	.	.	0.999990361384395	0.936
18	225404	C	T	18	225404	y	y	splicing	THOC1(NM_005131:exon14:c.1020-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1020-1G>A;ENST00000580038:exon14:c.971-1G>A;ENST00000579891:exon4:c.212-1G>A)	.	.	0.999990361384395	0.938
18	225405	T	A	18	225405	y	y	splicing	THOC1(NM_005131:exon14:c.1020-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1020-2A>T;ENST00000580038:exon14:c.971-2A>T;ENST00000579891:exon4:c.212-2A>T)	.	.	0.999988247793601	0.928
18	225405	T	C	18	225405	y	y	splicing	THOC1(NM_005131:exon14:c.1020-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1020-2A>G;ENST00000580038:exon14:c.971-2A>G;ENST00000579891:exon4:c.212-2A>G)	.	.	0.999988247793601	0.928
18	225405	T	G	18	225405	y	y	splicing	THOC1(NM_005131:exon14:c.1020-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon14:c.1020-2A>C;ENST00000580038:exon14:c.971-2A>C;ENST00000579891:exon4:c.212-2A>C)	.	.	0.999988247793601	0.928
18	225406	A	C	18	225406	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.993635393837024	0.698
18	225406	A	G	18	225406	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.02779413847711E-4	0.006
18	225406	A	T	18	225406	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.336158212900912	0.422
18	225407	G	A	18	225407	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.38309144623059E-4	0.092
18	225407	G	C	18	225407	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.09623232211716E-4	0.064
18	225407	G	T	18	225407	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.84067670635553E-4	0.024
18	225408	G	A	18	225408	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.29448637569301E-5	0.0
18	225408	G	C	18	225408	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00348038692202251	0.11
18	225408	G	T	18	225408	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00250849628759754	0.084
18	225409	G	A	18	225409	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.24561854085503E-5	0.002
18	225409	G	C	18	225409	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0831707797753893	0.268
18	225409	G	T	18	225409	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.128398259130974	0.256
18	225410	A	C	18	225410	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.384375336468399	0.394
18	225410	A	G	18	225410	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.06668968520817E-4	0.016
18	225410	A	T	18	225410	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.5601128588976	0.386
18	225411	A	C	18	225411	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0397774375460447	0.352
18	225411	A	G	18	225411	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.93740494393347E-4	0.022
18	225411	A	T	18	225411	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.468074077835482	0.422
18	225412	C	A	18	225412	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.71238399048772E-5	0.004
18	225412	C	G	18	225412	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.86143905314233E-5	0.004
18	225412	C	T	18	225412	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.84906075506047E-5	0.008
18	225413	A	C	18	225413	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0382065807834039	0.312
18	225413	A	G	18	225413	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.97019098615135E-4	0.016
18	225413	A	T	18	225413	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999906285719635	0.99
18	225414	A	C	18	225414	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0417666412795056	0.468
18	225414	A	G	18	225414	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00768743813167082	0.208
18	225414	A	T	18	225414	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.378399919378601	0.456
18	225415	A	C	18	225415	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.084647109075757	0.394
18	225415	A	G	18	225415	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.21443956963793E-4	0.05
18	225415	A	T	18	225415	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.136851352800432	0.432
18	226793	T	A	18	226793	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.60387029807596E-5	0.002
18	226793	T	C	18	226793	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.93579658256913E-5	0.0
18	226793	T	G	18	226793	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.0339478167547E-5	0.0
18	226794	A	C	18	226794	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.95785953004002E-5	0.006
18	226794	A	G	18	226794	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.9129047323238E-5	0.0
18	226794	A	T	18	226794	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.9129047323238E-5	0.0
18	226795	T	A	18	226795	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.36101171947157E-6	0.002
18	226795	T	C	18	226795	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.37976976334903E-6	0.014
18	226795	T	G	18	226795	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.58065700446121E-5	0.01
18	226796	C	A	18	226796	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.749173000223928	0.38
18	226796	C	G	18	226796	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.532123080821251	0.432
18	226796	C	T	18	226796	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.601562542430505	0.392
18	226797	T	A	18	226797	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0988811603777604	0.402
18	226797	T	C	18	226797	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.287115320892056	0.416
18	226797	T	G	18	226797	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.098152252056615	0.404
18	226798	T	A	18	226798	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.965526198138388	0.594
18	226798	T	C	18	226798	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00487441444903727	0.13
18	226798	T	G	18	226798	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.929621747605773	0.606
18	226799	A	C	18	226799	y	y	splicing	THOC1(NM_005131:exon13:c.1019+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.1019+2T>G;ENST00000580038:exon13:c.970+2T>G;ENST00000579891:exon3:c.211+2T>G)	.	.	0.999986903042585	0.926
18	226799	A	G	18	226799	y	y	splicing	THOC1(NM_005131:exon13:c.1019+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.1019+2T>C;ENST00000580038:exon13:c.970+2T>C;ENST00000579891:exon3:c.211+2T>C)	.	.	0.996657333966545	0.642
18	226799	A	T	18	226799	y	y	splicing	THOC1(NM_005131:exon13:c.1019+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.1019+2T>A;ENST00000580038:exon13:c.970+2T>A;ENST00000579891:exon3:c.211+2T>A)	.	.	0.999986903042585	0.928
18	226800	C	A	18	226800	y	y	splicing	THOC1(NM_005131:exon13:c.1019+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.1019+1G>T;ENST00000580038:exon13:c.970+1G>T;ENST00000579891:exon3:c.211+1G>T)	.	.	0.999981760802075	0.942
18	226800	C	G	18	226800	y	y	splicing	THOC1(NM_005131:exon13:c.1019+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.1019+1G>C;ENST00000580038:exon13:c.970+1G>C;ENST00000579891:exon3:c.211+1G>C)	.	.	0.999981760802075	0.942
18	226800	C	T	18	226800	y	y	splicing	THOC1(NM_005131:exon13:c.1019+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.1019+1G>A;ENST00000580038:exon13:c.970+1G>A;ENST00000579891:exon3:c.211+1G>A)	.	.	0.999981760802075	0.944
18	226801	C	A	18	226801	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.G1019T:p.S340I;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.G1019T:p.S340I;	0.999911566117581	0.968
18	226801	C	G	18	226801	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.G1019C:p.S340T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.G1019C:p.S340T;	0.999971677401456	0.958
18	226801	C	T	18	226801	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.G1019A:p.S340N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.G1019A:p.S340N;	0.999823647160074	0.994
18	226802	T	A	18	226802	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.A1018T:p.S340C;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.A1018T:p.S340C;	0.98933023633833	0.692
18	226802	T	C	18	226802	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.A1018G:p.S340G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.A1018G:p.S340G;	0.99465429143683	0.97
18	226802	T	G	18	226802	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.A1018C:p.S340R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.A1018C:p.S340R;	0.9926548363561	0.904
18	226803	T	A	18	226803	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.A1017T:p.K339N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.A1017T:p.K339N;	0.907662516113276	0.604
18	226803	T	C	18	226803	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon12:c.A1017G:p.K339K;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.A1017G:p.K339K;	0.171016224870792	0.326
18	226803	T	G	18	226803	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.A1017C:p.K339N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.A1017C:p.K339N;	0.579911739733399	0.668
18	226900	A	C	18	226900	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.T920G:p.L307R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.T920G:p.L307R;	0.79069385722706	.
18	226900	A	G	18	226900	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.T920C:p.L307P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.T920C:p.L307P;	0.812877815650231	.
18	226900	A	T	18	226900	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.T920A:p.L307Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.T920A:p.L307Q;	0.914977596098648	.
18	226901	G	A	18	226901	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon12:c.C919T:p.L307L;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.C919T:p.L307L;	8.41765705159586E-5	.
18	226901	G	C	18	226901	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.C919G:p.L307V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.C919G:p.L307V;	2.58015172983783E-5	.
18	226901	G	T	18	226901	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon12:c.C919A:p.L307M;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon12:c.C919A:p.L307M;	3.37534573530536E-6	.
18	226902	C	A	18	226902	y	y	splicing	THOC1(NM_005131:exon13:c.919-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.919-1G>T;ENST00000580038:exon13:c.870-1G>T;ENST00000579891:exon3:c.111-1G>T)	.	.	0.999887616749068	.
18	226902	C	G	18	226902	y	y	splicing	THOC1(NM_005131:exon13:c.919-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.919-1G>C;ENST00000580038:exon13:c.870-1G>C;ENST00000579891:exon3:c.111-1G>C)	.	.	0.999791965492972	.
18	226902	C	T	18	226902	y	y	splicing	THOC1(NM_005131:exon13:c.919-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.919-1G>A;ENST00000580038:exon13:c.870-1G>A;ENST00000579891:exon3:c.111-1G>A)	.	.	0.99991937337452	.
18	226903	T	A	18	226903	y	y	splicing	THOC1(NM_005131:exon13:c.919-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.919-2A>T;ENST00000580038:exon13:c.870-2A>T;ENST00000579891:exon3:c.111-2A>T)	.	.	0.999790696366316	.
18	226903	T	C	18	226903	y	y	splicing	THOC1(NM_005131:exon13:c.919-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.919-2A>G;ENST00000580038:exon13:c.870-2A>G;ENST00000579891:exon3:c.111-2A>G)	.	.	0.999790696366316	.
18	226903	T	G	18	226903	y	y	splicing	THOC1(NM_005131:exon13:c.919-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon13:c.919-2A>C;ENST00000580038:exon13:c.870-2A>C;ENST00000579891:exon3:c.111-2A>C)	.	.	0.999790696366316	.
18	226904	A	C	18	226904	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.993011725710779	.
18	226904	A	G	18	226904	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.92645988963224E-5	.
18	226904	A	T	18	226904	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.328249792255402	.
18	226905	C	A	18	226905	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.43093029868931E-5	.
18	226905	C	G	18	226905	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.20695684174431E-5	.
18	226905	C	T	18	226905	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.43093029868931E-5	.
18	226906	T	A	18	226906	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.38847555400902E-5	.
18	226906	T	C	18	226906	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.54026292046395E-4	.
18	226906	T	G	18	226906	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.24738176110318E-5	.
18	226907	C	A	18	226907	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.94221001325927E-5	.
18	226907	C	G	18	226907	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.39986705275805E-4	.
18	226907	C	T	18	226907	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.34790314014428E-4	.
18	226908	A	C	18	226908	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00256531556077373	.
18	226908	A	G	18	226908	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.52834032197E-4	.
18	226908	A	T	18	226908	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.969356827752769	.
18	226909	A	C	18	226909	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00327968443989321	.
18	226909	A	G	18	226909	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.06605735643637E-5	.
18	226909	A	T	18	226909	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00868972749950254	.
18	226910	G	A	18	226910	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.46014318202676E-5	.
18	226910	G	C	18	226910	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.136263565046751	.
18	226910	G	T	18	226910	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.505432075204834	.
18	226911	A	C	18	226911	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.940629059782451	.
18	226911	A	G	18	226911	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00769156766134205	.
18	226911	A	T	18	226911	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.962164712401336	.
18	226912	A	C	18	226912	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00458870928828576	.
18	226912	A	G	18	226912	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00141189299510719	.
18	226912	A	T	18	226912	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0679239801976516	.
18	226913	A	C	18	226913	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.121550459849442	.
18	226913	A	G	18	226913	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.69027179806129E-4	.
18	226913	A	T	18	226913	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.243785086923322	.
18	246316	A	C	18	246316	y	n	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	6.6548716612411E-5	0.0
18	246316	A	G	18	246316	y	n	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	1.53231932393209E-4	0.0
18	246316	A	T	18	246316	y	n	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	5.40447878472689E-5	0.0
18	246317	C	A	18	246317	y	n	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	1.24970664770444E-4	0.004
18	246317	C	G	18	246317	y	n	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	3.69894585645433E-5	0.0
18	246317	C	T	18	246317	y	n	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	3.69894585645433E-5	0.0
18	246318	T	A	18	246318	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.58008188215659E-5	0.016
18	246318	T	C	18	246318	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	5.52398611993246E-5	0.008
18	246318	T	G	18	246318	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.61092782808538E-4	0.052
18	246319	T	A	18	246319	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	2.27799609386627E-4	0.008
18	246319	T	C	18	246319	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	1.73193530960533E-4	0.094
18	246319	T	G	18	246319	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	2.11326127154756E-4	0.028
18	246320	A	C	18	246320	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	6.091362500995E-5	0.006
18	246320	A	G	18	246320	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	5.36552794356347E-4	0.014
18	246320	A	T	18	246320	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	8.02152163606011E-5	0.056
18	246321	T	A	18	246321	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.999954512850717	0.942
18	246321	T	C	18	246321	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.999679950189089	0.782
18	246321	T	G	18	246321	y	n	intronic	THOC1	.	.	exonic	ENSG00000079134	unknown	UNKNOWN	0.999936011878144	0.924
18	246322	A	C	18	246322	y	n	splicing	THOC1(NM_005131:exon12:c.918+2T>G)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon12:c.918+2T>G;ENST00000580038:exon12:c.869+2T>G;ENST00000579891:exon2:c.110+2T>G)	unknown	UNKNOWN	0.999946188727699	0.952
18	246322	A	G	18	246322	y	n	splicing	THOC1(NM_005131:exon12:c.918+2T>C)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon12:c.918+2T>C;ENST00000580038:exon12:c.869+2T>C;ENST00000579891:exon2:c.110+2T>C)	unknown	UNKNOWN	0.970590556958883	0.708
18	246322	A	T	18	246322	y	n	splicing	THOC1(NM_005131:exon12:c.918+2T>A)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon12:c.918+2T>A;ENST00000580038:exon12:c.869+2T>A;ENST00000579891:exon2:c.110+2T>A)	unknown	UNKNOWN	0.999946188727699	0.954
18	246323	C	A	18	246323	y	n	splicing	THOC1(NM_005131:exon12:c.918+1G>T)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon12:c.918+1G>T;ENST00000580038:exon12:c.869+1G>T;ENST00000579891:exon2:c.110+1G>T)	unknown	UNKNOWN	0.999968560109063	0.956
18	246323	C	G	18	246323	y	n	splicing	THOC1(NM_005131:exon12:c.918+1G>C)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon12:c.918+1G>C;ENST00000580038:exon12:c.869+1G>C;ENST00000579891:exon2:c.110+1G>C)	unknown	UNKNOWN	0.999968560109063	0.96
18	246323	C	T	18	246323	y	n	splicing	THOC1(NM_005131:exon12:c.918+1G>A)	.	.	exonic;splicing	ENSG00000079134;ENSG00000079134(ENST00000261600:exon12:c.918+1G>A;ENST00000580038:exon12:c.869+1G>A;ENST00000579891:exon2:c.110+1G>A)	unknown	UNKNOWN	0.999968560109063	0.952
18	246324	C	A	18	246324	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.G918T:p.K306N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.G918T:p.K306N;	0.999994342005323	0.998
18	246324	C	G	18	246324	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.G918C:p.K306N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.G918C:p.K306N;	0.999997360428448	1.0
18	246324	C	T	18	246324	y	n	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon11:c.G918A:p.K306K;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.G918A:p.K306K;	0.999980879903668	0.998
18	246325	T	A	18	246325	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.A917T:p.K306M;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.A917T:p.K306M;	0.999979851600115	0.998
18	246325	T	C	18	246325	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.A917G:p.K306R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.A917G:p.K306R;	0.99997757589153	0.992
18	246325	T	G	18	246325	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.A917C:p.K306T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.A917C:p.K306T;	0.999952747413454	1.0
18	246326	T	A	18	246326	y	n	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon11:c.A916T:p.K306X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon11:c.A916T:p.K306X;	0.999515465670135	0.91
18	246326	T	C	18	246326	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.A916G:p.K306E;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.A916G:p.K306E;	0.921651611152028	0.518
18	246326	T	G	18	246326	y	n	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.A916C:p.K306Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.A916C:p.K306Q;	0.891308624546515	0.77
18	246454	T	A	18	246454	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.A788T:p.Y263F;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.A788T:p.Y263F;ENSG00000079134:ENST00000580038:exon11:c.A739T:p.I247F;	0.00403441860634534	0.034
18	246454	T	C	18	246454	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.A788G:p.Y263C;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.A788G:p.Y263C;ENSG00000079134:ENST00000580038:exon11:c.A739G:p.I247V;	0.925583026818121	0.702
18	246454	T	G	18	246454	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.A788C:p.Y263S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.A788C:p.Y263S;ENSG00000079134:ENST00000580038:exon11:c.A739C:p.I247L;	0.00484448586446998	0.062
18	246455	A	C	18	246455	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.T787G:p.Y263D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.T787G:p.Y263D;ENSG00000079134:ENST00000580038:exon11:c.T738G:p.S246R;	0.466716239787141	0.356
18	246455	A	G	18	246455	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.T787C:p.Y263H;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.T787C:p.Y263H;	0.00102682341824118	0.068
18	246455	A	T	18	246455	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon11:c.T787A:p.Y263N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon11:c.T787A:p.Y263N;ENSG00000079134:ENST00000580038:exon11:c.T738A:p.S246R;	0.0246606007657348	0.34
18	246456	C	A	18	246456	y	y	splicing	THOC1(NM_005131:exon12:c.787-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon12:c.787-1G>T;ENST00000580038:exon12:c.738-1G>T;ENST00000584642:exon4:c.149-1G>T)	.	.	0.99993314117114	0.952
18	246456	C	G	18	246456	y	y	splicing	THOC1(NM_005131:exon12:c.787-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon12:c.787-1G>C;ENST00000580038:exon12:c.738-1G>C;ENST00000584642:exon4:c.149-1G>C)	.	.	0.99993314117114	0.956
18	246456	C	T	18	246456	y	y	splicing	THOC1(NM_005131:exon12:c.787-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon12:c.787-1G>A;ENST00000580038:exon12:c.738-1G>A;ENST00000584642:exon4:c.149-1G>A)	.	.	0.99993314117114	0.952
18	246457	T	A	18	246457	y	y	splicing	THOC1(NM_005131:exon12:c.787-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon12:c.787-2A>T;ENST00000580038:exon12:c.738-2A>T;ENST00000584642:exon4:c.149-2A>T)	.	.	0.999971317418422	0.916
18	246457	T	C	18	246457	y	y	splicing	THOC1(NM_005131:exon12:c.787-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon12:c.787-2A>G;ENST00000580038:exon12:c.738-2A>G;ENST00000584642:exon4:c.149-2A>G)	.	.	0.999971317418422	0.912
18	246457	T	G	18	246457	y	y	splicing	THOC1(NM_005131:exon12:c.787-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon12:c.787-2A>C;ENST00000580038:exon12:c.738-2A>C;ENST00000584642:exon4:c.149-2A>C)	.	.	0.999971317418422	0.912
18	246458	G	A	18	246458	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.015526098331001	0.192
18	246458	G	C	18	246458	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999648731971843	0.81
18	246458	G	T	18	246458	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.99238698040962	0.684
18	246459	C	A	18	246459	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.96433241284468E-5	0.006
18	246459	C	G	18	246459	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.72295052545978E-5	0.008
18	246459	C	T	18	246459	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.96433241284468E-5	0.006
18	246460	A	C	18	246460	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0696239760900656	0.288
18	246460	A	G	18	246460	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00216672103036967	0.078
18	246460	A	T	18	246460	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998920593877224	0.926
18	246461	A	C	18	246461	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0128068694184559	0.274
18	246461	A	G	18	246461	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00177075868977538	0.084
18	246461	A	T	18	246461	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0317563309311996	0.298
18	246462	A	C	18	246462	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0205155656555191	0.238
18	246462	A	G	18	246462	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.64879405211627E-4	0.054
18	246462	A	T	18	246462	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0107758496573841	0.254
18	246463	A	C	18	246463	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.99972570506588	0.932
18	246463	A	G	18	246463	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.26300108665819E-4	0.054
18	246463	A	T	18	246463	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.6445996147709E-4	0.178
18	246464	T	A	18	246464	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.8460164454099E-5	0.016
18	246464	T	C	18	246464	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.89086356220001E-5	0.0
18	246464	T	G	18	246464	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.4003110106033E-5	0.0
18	246465	A	C	18	246465	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0325595058839649	0.296
18	246465	A	G	18	246465	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00840972433499179	0.092
18	246465	A	T	18	246465	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0292179098452356	0.322
18	246466	A	C	18	246466	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0165783445126031	0.256
18	246466	A	G	18	246466	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.31377229680841E-4	0.058
18	246466	A	T	18	246466	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0088334075627909	0.286
18	246467	A	C	18	246467	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00486259869905045	0.148
18	246467	A	G	18	246467	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0014660751859365	0.074
18	246467	A	T	18	246467	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0011549055331165	0.086
18	247841	C	A	18	247841	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.52932449848953E-5	0.0
18	247841	C	G	18	247841	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.52932449848953E-5	0.0
18	247841	C	T	18	247841	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.52932449848953E-5	0.0
18	247842	A	C	18	247842	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.60947442822834E-5	0.0
18	247842	A	G	18	247842	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.60947442822834E-5	0.0
18	247842	A	T	18	247842	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.60947442822834E-5	0.0
18	247843	A	C	18	247843	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00125486483435767	0.114
18	247843	A	G	18	247843	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00725252977921086	0.186
18	247843	A	T	18	247843	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00608563870972985	0.202
18	247844	C	A	18	247844	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.288153717564412	0.546
18	247844	C	G	18	247844	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.223046327833332	0.442
18	247844	C	T	18	247844	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.220437598271373	0.546
18	247845	T	A	18	247845	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0621854798341808	0.228
18	247845	T	C	18	247845	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0568964633212262	0.266
18	247845	T	G	18	247845	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0481532429251502	0.218
18	247846	T	A	18	247846	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0267539545828532	0.392
18	247846	T	C	18	247846	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.40027923782761E-4	0.004
18	247846	T	G	18	247846	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0985233484041878	0.44
18	247847	A	C	18	247847	y	y	splicing	THOC1(NM_005131:exon11:c.786+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.786+2T>G;ENST00000580038:exon11:c.737+2T>G;ENST00000584642:exon3:c.148+2T>G)	.	.	0.999984298712381	0.932
18	247847	A	G	18	247847	y	y	splicing	THOC1(NM_005131:exon11:c.786+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.786+2T>C;ENST00000580038:exon11:c.737+2T>C;ENST00000584642:exon3:c.148+2T>C)	.	.	0.97291966095429	0.586
18	247847	A	T	18	247847	y	y	splicing	THOC1(NM_005131:exon11:c.786+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.786+2T>A;ENST00000580038:exon11:c.737+2T>A;ENST00000584642:exon3:c.148+2T>A)	.	.	0.999975930788337	0.936
18	247848	C	A	18	247848	y	y	splicing	THOC1(NM_005131:exon11:c.786+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.786+1G>T;ENST00000580038:exon11:c.737+1G>T;ENST00000584642:exon3:c.148+1G>T)	.	.	0.999915710762489	0.93
18	247848	C	G	18	247848	y	y	splicing	THOC1(NM_005131:exon11:c.786+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.786+1G>C;ENST00000580038:exon11:c.737+1G>C;ENST00000584642:exon3:c.148+1G>C)	.	.	0.999915710762489	0.938
18	247848	C	T	18	247848	y	y	splicing	THOC1(NM_005131:exon11:c.786+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.786+1G>A;ENST00000580038:exon11:c.737+1G>A;ENST00000584642:exon3:c.148+1G>A)	.	.	0.999915710762489	0.934
18	247849	C	A	18	247849	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.G786T:p.K262N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.G786T:p.K262N;ENSG00000079134:ENST00000580038:exon10:c.G737T:p.S246I;	0.24934247683198	0.362
18	247849	C	G	18	247849	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.G786C:p.K262N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.G786C:p.K262N;ENSG00000079134:ENST00000580038:exon10:c.G737C:p.S246T;	0.387590893642819	0.442
18	247849	C	T	18	247849	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon10:c.G786A:p.K262K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000580038:exon10:c.G737A:p.S246N;	0.0721273995562829	0.248
18	247850	T	A	18	247850	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.A785T:p.K262M;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.A785T:p.K262M;ENSG00000079134:ENST00000580038:exon10:c.A736T:p.S246C;	0.44591643081388	0.492
18	247850	T	C	18	247850	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.A785G:p.K262R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.A785G:p.K262R;ENSG00000079134:ENST00000580038:exon10:c.A736G:p.S246G;	0.0984390541837269	0.196
18	247850	T	G	18	247850	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.A785C:p.K262T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.A785C:p.K262T;ENSG00000079134:ENST00000580038:exon10:c.A736C:p.S246R;	0.0341186487046074	0.37
18	247851	T	A	18	247851	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon10:c.A784T:p.K262X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon10:c.A784T:p.K262X;	0.940997651370099	0.596
18	247851	T	C	18	247851	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.A784G:p.K262E;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.A784G:p.K262E;	0.00149101839049592	0.042
18	247851	T	G	18	247851	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.A784C:p.K262Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.A784C:p.K262Q;	0.151152342712176	0.556
18	247956	A	C	18	247956	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.T679G:p.S227A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.T679G:p.S227A;	0.323198474823707	0.354
18	247956	A	G	18	247956	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.T679C:p.S227P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.T679C:p.S227P;	0.412992564207886	0.4
18	247956	A	T	18	247956	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.T679A:p.S227T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.T679A:p.S227T;	0.149710421311286	0.314
18	247957	G	A	18	247957	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon10:c.C678T:p.C226C;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.C678T:p.C226C;	0.0209438838973858	0.394
18	247957	G	C	18	247957	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon10:c.C678G:p.C226W;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon10:c.C678G:p.C226W;	0.00243203432003274	0.162
18	247957	G	T	18	247957	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon10:c.C678A:p.C226X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon10:c.C678A:p.C226X;	0.0859002169799682	0.502
18	247958	C	A	18	247958	y	y	splicing	THOC1(NM_005131:exon11:c.678-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.678-1G>T;ENST00000584642:exon3:c.40-1G>T)	.	.	0.999955485601963	0.916
18	247958	C	G	18	247958	y	y	splicing	THOC1(NM_005131:exon11:c.678-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.678-1G>C;ENST00000584642:exon3:c.40-1G>C)	.	.	0.999955485601963	0.914
18	247958	C	T	18	247958	y	y	splicing	THOC1(NM_005131:exon11:c.678-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.678-1G>A;ENST00000584642:exon3:c.40-1G>A)	.	.	0.999955485601963	0.918
18	247959	T	A	18	247959	y	y	splicing	THOC1(NM_005131:exon11:c.678-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.678-2A>T;ENST00000584642:exon3:c.40-2A>T)	.	.	0.999962958601995	0.812
18	247959	T	C	18	247959	y	y	splicing	THOC1(NM_005131:exon11:c.678-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.678-2A>G;ENST00000584642:exon3:c.40-2A>G)	.	.	0.999980255680118	0.802
18	247959	T	G	18	247959	y	y	splicing	THOC1(NM_005131:exon11:c.678-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon11:c.678-2A>C;ENST00000584642:exon3:c.40-2A>C)	.	.	0.999980255680118	0.8
18	247960	A	C	18	247960	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.995658003653855	0.734
18	247960	A	G	18	247960	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.36714586342374E-6	0.118
18	247960	A	T	18	247960	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0162685455656724	0.306
18	247961	A	C	18	247961	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.969872379595973	0.962
18	247961	A	G	18	247961	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.37133515597783E-5	0.064
18	247961	A	T	18	247961	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.0296487902924E-5	0.0
18	247962	T	A	18	247962	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.71380806658342E-5	0.052
18	247962	T	C	18	247962	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.22135389771743E-5	0.0
18	247962	T	G	18	247962	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.6145473046765E-5	0.0
18	247963	A	C	18	247963	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.490122349206797	0.428
18	247963	A	G	18	247963	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00133365305143873	0.07
18	247963	A	T	18	247963	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.269951512523497	0.458
18	247964	A	C	18	247964	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.438048867913808	0.404
18	247964	A	G	18	247964	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00265035125405326	0.086
18	247964	A	T	18	247964	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.470040937393245	0.432
18	247965	A	C	18	247965	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.175859334475932	0.472
18	247965	A	G	18	247965	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.42767853988881E-4	0.028
18	247965	A	T	18	247965	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.474242980068894	0.49
18	247966	A	C	18	247966	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.99989382502458	0.964
18	247966	A	G	18	247966	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.12166856114638E-4	0.05
18	247966	A	T	18	247966	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00940490797688526	0.368
18	247967	T	A	18	247967	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.85574549172259E-5	0.042
18	247967	T	C	18	247967	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.60950589935293E-5	0.004
18	247967	T	G	18	247967	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.85574549172259E-5	0.012
18	247968	A	C	18	247968	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.81750287299198	0.61
18	247968	A	G	18	247968	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0736958219786206	0.338
18	247968	A	T	18	247968	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.985634619114094	0.692
18	247969	A	C	18	247969	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.23798857970979	0.522
18	247969	A	G	18	247969	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00937081301742775	0.144
18	247969	A	T	18	247969	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.611037789883794	0.57
18	252531	A	C	18	252531	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.72782111499651E-5	0.0
18	252531	A	G	18	252531	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.455930068921E-5	0.0
18	252531	A	T	18	252531	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.83451585927357E-5	0.0
18	252532	A	C	18	252532	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.73410185675116E-4	0.002
18	252532	A	G	18	252532	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.73410185675116E-4	0.004
18	252532	A	T	18	252532	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.73057941056415E-4	0.006
18	252533	A	C	18	252533	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.494136427275199	0.516
18	252533	A	G	18	252533	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.543797477785176	0.542
18	252533	A	T	18	252533	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.987183346399524	0.64
18	252534	C	A	18	252534	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999984317298458	0.96
18	252534	C	G	18	252534	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999975763141756	0.958
18	252534	C	T	18	252534	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999857824996748	0.902
18	252535	T	A	18	252535	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.978001097908352	0.848
18	252535	T	C	18	252535	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.977223212105805	0.796
18	252535	T	G	18	252535	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.764385208797087	0.574
18	252536	C	A	18	252536	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.218306389368948	0.322
18	252536	C	G	18	252536	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.444091818972245	0.36
18	252536	C	T	18	252536	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.61582385129927E-5	0.0
18	252537	A	C	18	252537	y	y	splicing	THOC1(NM_005131:exon10:c.677+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.677+2T>G;ENST00000580038:exon10:c.677+2T>G;ENST00000584642:exon2:c.39+2T>G)	.	.	0.999972155025474	0.818
18	252537	A	G	18	252537	y	y	splicing	THOC1(NM_005131:exon10:c.677+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.677+2T>C;ENST00000580038:exon10:c.677+2T>C;ENST00000584642:exon2:c.39+2T>C)	.	.	0.999778102150765	0.818
18	252537	A	T	18	252537	y	y	splicing	THOC1(NM_005131:exon10:c.677+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.677+2T>A;ENST00000580038:exon10:c.677+2T>A;ENST00000584642:exon2:c.39+2T>A)	.	.	0.999971317418422	0.888
18	252538	C	A	18	252538	y	y	splicing	THOC1(NM_005131:exon10:c.677+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.677+1G>T;ENST00000580038:exon10:c.677+1G>T;ENST00000584642:exon2:c.39+1G>T)	.	.	0.999933757597683	0.94
18	252538	C	G	18	252538	y	y	splicing	THOC1(NM_005131:exon10:c.677+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.677+1G>C;ENST00000580038:exon10:c.677+1G>C;ENST00000584642:exon2:c.39+1G>C)	.	.	0.999956786857988	0.938
18	252538	C	T	18	252538	y	y	splicing	THOC1(NM_005131:exon10:c.677+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.677+1G>A;ENST00000580038:exon10:c.677+1G>A;ENST00000584642:exon2:c.39+1G>A)	.	.	0.999933757597683	0.938
18	252539	C	A	18	252539	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.G677T:p.C226F;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.G677T:p.C226F;ENSG00000079134:ENST00000580038:exon9:c.G677T:p.W226L;	0.999535340326344	0.95
18	252539	C	G	18	252539	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.G677C:p.C226S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.G677C:p.C226S;ENSG00000079134:ENST00000580038:exon9:c.G677C:p.W226S;	0.997179824317349	0.546
18	252539	C	T	18	252539	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.G677A:p.C226Y;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000580038:exon9:c.G677A:p.W226X;	0.99995912048219	0.944
18	252540	A	C	18	252540	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.T676G:p.C226G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.T676G:p.C226G;ENSG00000079134:ENST00000580038:exon9:c.T676G:p.W226G;	0.00732522726211545	0.188
18	252540	A	G	18	252540	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.T676C:p.C226R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.T676C:p.C226R;ENSG00000079134:ENST00000580038:exon9:c.T676C:p.W226R;	0.0186893429652159	0.14
18	252540	A	T	18	252540	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.T676A:p.C226S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.T676A:p.C226S;ENSG00000079134:ENST00000580038:exon9:c.T676A:p.W226R;	6.65081196667929E-4	0.084
18	252541	C	A	18	252541	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon9:c.G675T:p.T225T;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.G675T:p.T225T;ENSG00000079134:ENST00000580038:exon9:c.G675T:p.T225T;	3.49626784531154E-5	0.0
18	252541	C	G	18	252541	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon9:c.G675C:p.T225T;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.G675C:p.T225T;ENSG00000079134:ENST00000580038:exon9:c.G675C:p.T225T;	1.65538597462002E-5	0.004
18	252541	C	T	18	252541	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon9:c.G675A:p.T225T;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.G675A:p.T225T;ENSG00000079134:ENST00000580038:exon9:c.G675A:p.T225T;	1.65538597462002E-5	0.004
18	252611	T	A	18	252611	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.A605T:p.H202L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.A605T:p.H202L;ENSG00000079134:ENST00000580038:exon9:c.A605T:p.H202L;	0.00333322608437991	0.046
18	252611	T	C	18	252611	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.A605G:p.H202R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.A605G:p.H202R;ENSG00000079134:ENST00000580038:exon9:c.A605G:p.H202R;	0.00164560857721073	0.032
18	252611	T	G	18	252611	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.A605C:p.H202P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.A605C:p.H202P;ENSG00000079134:ENST00000580038:exon9:c.A605C:p.H202P;	0.00416906220565518	0.042
18	252612	G	A	18	252612	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.C604T:p.H202Y;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.C604T:p.H202Y;ENSG00000079134:ENST00000580038:exon9:c.C604T:p.H202Y;	0.0328106935279133	0.296
18	252612	G	C	18	252612	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.C604G:p.H202D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.C604G:p.H202D;ENSG00000079134:ENST00000580038:exon9:c.C604G:p.H202D;	0.00250817574781957	0.118
18	252612	G	T	18	252612	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon9:c.C604A:p.H202N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon9:c.C604A:p.H202N;ENSG00000079134:ENST00000580038:exon9:c.C604A:p.H202N;	0.00141438796753595	0.054
18	252613	C	A	18	252613	y	y	splicing	THOC1(NM_005131:exon10:c.604-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.604-1G>T;ENST00000580038:exon10:c.604-1G>T)	.	.	0.999991289042512	0.776
18	252613	C	G	18	252613	y	y	splicing	THOC1(NM_005131:exon10:c.604-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.604-1G>C;ENST00000580038:exon10:c.604-1G>C)	.	.	0.999991289042512	0.776
18	252613	C	T	18	252613	y	y	splicing	THOC1(NM_005131:exon10:c.604-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.604-1G>A;ENST00000580038:exon10:c.604-1G>A)	.	.	0.999991289042512	0.776
18	252614	T	A	18	252614	y	y	splicing	THOC1(NM_005131:exon10:c.604-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.604-2A>T;ENST00000580038:exon10:c.604-2A>T)	.	.	0.999969712949741	0.848
18	252614	T	C	18	252614	y	y	splicing	THOC1(NM_005131:exon10:c.604-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.604-2A>G;ENST00000580038:exon10:c.604-2A>G)	.	.	0.999962958601995	0.808
18	252614	T	G	18	252614	y	y	splicing	THOC1(NM_005131:exon10:c.604-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon10:c.604-2A>C;ENST00000580038:exon10:c.604-2A>C)	.	.	0.999962958601995	0.81
18	252615	A	C	18	252615	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.995618550005115	0.688
18	252615	A	G	18	252615	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.26562613403492E-5	0.012
18	252615	A	T	18	252615	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.20040238489907	0.352
18	252616	A	C	18	252616	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.57169979906781E-4	0.004
18	252616	A	G	18	252616	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.23683830087119E-5	0.006
18	252616	A	T	18	252616	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.53225775246045E-5	0.024
18	252617	A	C	18	252617	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999944164533639	0.942
18	252617	A	G	18	252617	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0189057981977976	0.168
18	252617	A	T	18	252617	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.512360457061387	0.434
18	252618	T	A	18	252618	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.0291873933743E-5	0.0
18	252618	T	C	18	252618	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.721266319159783	0.946
18	252618	T	G	18	252618	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.11848901048002E-5	0.0
18	252619	T	A	18	252619	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.64205210230062E-5	0.002
18	252619	T	C	18	252619	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.88102994485347E-5	0.0
18	252619	T	G	18	252619	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.40304642828362E-5	0.0
18	252620	G	A	18	252620	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.12244433923632E-5	0.006
18	252620	G	C	18	252620	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00331235561311284	0.128
18	252620	G	T	18	252620	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.55096163817088E-4	0.066
18	252621	A	C	18	252621	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00586909411456188	0.106
18	252621	A	G	18	252621	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.38885185017065E-4	0.002
18	252621	A	T	18	252621	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00787085173853585	0.11
18	252622	A	C	18	252622	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.972173047833778	0.802
18	252622	A	G	18	252622	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0303919377184499	0.084
18	252622	A	T	18	252622	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.893881310773816	0.81
18	252623	A	C	18	252623	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.780478361391548	0.678
18	252623	A	G	18	252623	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0276417158426049	0.288
18	252623	A	T	18	252623	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.533846093525869	0.744
18	252624	A	C	18	252624	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.672569410514291	0.666
18	252624	A	G	18	252624	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00494192862734306	0.078
18	252624	A	T	18	252624	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.741702416393729	0.784
18	254265	A	C	18	254265	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.20118645106669E-5	0.0
18	254265	A	G	18	254265	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.20118645106669E-5	0.0
18	254265	A	T	18	254265	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.20118645106669E-5	0.0
18	254266	G	A	18	254266	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00750030625778452	0.072
18	254266	G	C	18	254266	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0022176215700918	0.048
18	254266	G	T	18	254266	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00177931428013692	0.026
18	254267	C	A	18	254267	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.28801148860412E-5	0.0
18	254267	C	G	18	254267	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.8011006726999E-5	0.002
18	254267	C	T	18	254267	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.07656154959517E-4	0.004
18	254268	C	A	18	254268	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999602255037744	0.756
18	254268	C	G	18	254268	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.96990032559243	0.538
18	254268	C	T	18	254268	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.997511851840248	0.722
18	254269	T	A	18	254269	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.953067426405184	0.594
18	254269	T	C	18	254269	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.907247328334846	0.614
18	254269	T	G	18	254269	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.423444574502413	0.468
18	254270	C	A	18	254270	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0431130318340636	0.318
18	254270	C	G	18	254270	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0318734865260691	0.266
18	254270	C	T	18	254270	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.80576579251066E-5	0.0
18	254271	A	C	18	254271	y	y	splicing	THOC1(NM_005131:exon9:c.603+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.603+2T>G;ENST00000580038:exon9:c.603+2T>G)	.	.	0.999980255680118	0.792
18	254271	A	G	18	254271	y	y	splicing	THOC1(NM_005131:exon9:c.603+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.603+2T>C;ENST00000580038:exon9:c.603+2T>C)	.	.	0.998765198599903	0.702
18	254271	A	T	18	254271	y	y	splicing	THOC1(NM_005131:exon9:c.603+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.603+2T>A;ENST00000580038:exon9:c.603+2T>A)	.	.	0.999962958601995	0.802
18	254272	C	A	18	254272	y	y	splicing	THOC1(NM_005131:exon9:c.603+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.603+1G>T;ENST00000580038:exon9:c.603+1G>T)	.	.	0.99996748057446	0.902
18	254272	C	G	18	254272	y	y	splicing	THOC1(NM_005131:exon9:c.603+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.603+1G>C;ENST00000580038:exon9:c.603+1G>C)	.	.	0.999968430223941	0.868
18	254272	C	T	18	254272	y	y	splicing	THOC1(NM_005131:exon9:c.603+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.603+1G>A;ENST00000580038:exon9:c.603+1G>A)	.	.	0.99996748057446	0.906
18	254273	C	A	18	254273	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.G603T:p.K201N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.G603T:p.K201N;ENSG00000079134:ENST00000580038:exon8:c.G603T:p.K201N;	0.999271853770365	0.954
18	254273	C	G	18	254273	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.G603C:p.K201N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.G603C:p.K201N;ENSG00000079134:ENST00000580038:exon8:c.G603C:p.K201N;	0.999996630425398	0.996
18	254273	C	T	18	254273	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon8:c.G603A:p.K201K;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.G603A:p.K201K;ENSG00000079134:ENST00000580038:exon8:c.G603A:p.K201K;	0.998711977182902	0.942
18	254274	T	A	18	254274	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.A602T:p.K201M;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.A602T:p.K201M;ENSG00000079134:ENST00000580038:exon8:c.A602T:p.K201M;	0.991771595540479	0.962
18	254274	T	C	18	254274	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.A602G:p.K201R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.A602G:p.K201R;ENSG00000079134:ENST00000580038:exon8:c.A602G:p.K201R;	0.996805726995175	0.964
18	254274	T	G	18	254274	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.A602C:p.K201T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.A602C:p.K201T;ENSG00000079134:ENST00000580038:exon8:c.A602C:p.K201T;	0.896680046975247	0.872
18	254275	T	A	18	254275	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon8:c.A601T:p.K201X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon8:c.A601T:p.K201X;ENSG00000079134:ENST00000580038:exon8:c.A601T:p.K201X;	0.92980000894997	0.676
18	254275	T	C	18	254275	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.A601G:p.K201E;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.A601G:p.K201E;ENSG00000079134:ENST00000580038:exon8:c.A601G:p.K201E;	0.0327841990980276	0.252
18	254275	T	G	18	254275	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.A601C:p.K201Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.A601C:p.K201Q;ENSG00000079134:ENST00000580038:exon8:c.A601C:p.K201Q;	0.00432002392464155	0.04
18	254354	A	C	18	254354	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon8:c.T522G:p.G174G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.T522G:p.G174G;ENSG00000079134:ENST00000580038:exon8:c.T522G:p.G174G;	8.04662492132946E-5	0.01
18	254354	A	G	18	254354	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon8:c.T522C:p.G174G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.T522C:p.G174G;ENSG00000079134:ENST00000580038:exon8:c.T522C:p.G174G;	6.45407833481625E-5	0.008
18	254354	A	T	18	254354	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon8:c.T522A:p.G174G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.T522A:p.G174G;ENSG00000079134:ENST00000580038:exon8:c.T522A:p.G174G;	1.08128446698546E-4	0.0
18	254355	C	A	18	254355	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.G521T:p.G174V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.G521T:p.G174V;ENSG00000079134:ENST00000580038:exon8:c.G521T:p.G174V;	0.999032236973761	0.81
18	254355	C	G	18	254355	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.G521C:p.G174A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.G521C:p.G174A;ENSG00000079134:ENST00000580038:exon8:c.G521C:p.G174A;	0.999053573831359	0.878
18	254355	C	T	18	254355	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon8:c.G521A:p.G174D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon8:c.G521A:p.G174D;ENSG00000079134:ENST00000580038:exon8:c.G521A:p.G174D;	0.997097409959548	0.814
18	254356	C	A	18	254356	y	y	splicing	THOC1(NM_005131:exon9:c.521-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.521-1G>T;ENST00000580038:exon9:c.521-1G>T;ENST00000581269:exon8:c.454-1G>T)	.	.	0.999949496871441	0.946
18	254356	C	G	18	254356	y	y	splicing	THOC1(NM_005131:exon9:c.521-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.521-1G>C;ENST00000580038:exon9:c.521-1G>C;ENST00000581269:exon8:c.454-1G>C)	.	.	0.999949496871441	0.946
18	254356	C	T	18	254356	y	y	splicing	THOC1(NM_005131:exon9:c.521-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.521-1G>A;ENST00000580038:exon9:c.521-1G>A;ENST00000581269:exon8:c.454-1G>A)	.	.	0.999949496871441	0.942
18	254357	T	A	18	254357	y	y	splicing	THOC1(NM_005131:exon9:c.521-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.521-2A>T;ENST00000580038:exon9:c.521-2A>T;ENST00000581269:exon8:c.454-2A>T)	.	.	0.999969255906173	0.852
18	254357	T	C	18	254357	y	y	splicing	THOC1(NM_005131:exon9:c.521-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.521-2A>G;ENST00000580038:exon9:c.521-2A>G;ENST00000581269:exon8:c.454-2A>G)	.	.	0.999962958601995	0.842
18	254357	T	G	18	254357	y	y	splicing	THOC1(NM_005131:exon9:c.521-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon9:c.521-2A>C;ENST00000580038:exon9:c.521-2A>C;ENST00000581269:exon8:c.454-2A>C)	.	.	0.999962958601995	0.846
18	254358	A	C	18	254358	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.993102062285351	0.59
18	254358	A	G	18	254358	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.64998186468257E-5	0.02
18	254358	A	T	18	254358	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00116260746496873	0.128
18	254359	G	A	18	254359	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.9722273383905E-5	0.0
18	254359	G	C	18	254359	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.36795451736392	0.732
18	254359	G	T	18	254359	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.34804234922182E-5	0.0
18	254360	T	A	18	254360	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.98949526044857E-5	0.008
18	254360	T	C	18	254360	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.7604709353948E-5	0.07
18	254360	T	G	18	254360	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.85623902109948E-5	0.024
18	254361	A	C	18	254361	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.55344015682205E-4	0.264
18	254361	A	G	18	254361	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.72547517890754E-5	0.022
18	254361	A	T	18	254361	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.90624234159875E-4	0.22
18	254362	A	C	18	254362	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00129800451346123	0.132
18	254362	A	G	18	254362	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.97291504005486E-5	0.006
18	254362	A	T	18	254362	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00425499197644085	0.148
18	254363	A	C	18	254363	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0459256697974626	0.322
18	254363	A	G	18	254363	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.51218391558117E-4	0.038
18	254363	A	T	18	254363	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.173118192446338	0.316
18	254364	A	C	18	254364	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00121481699288394	0.106
18	254364	A	G	18	254364	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.43879756969062E-5	0.002
18	254364	A	T	18	254364	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00143039614855866	0.086
18	254365	A	C	18	254365	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.95499905550057E-4	0.09
18	254365	A	G	18	254365	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.42552173435261E-5	0.0
18	254365	A	T	18	254365	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00156788016663628	0.064
18	254366	A	C	18	254366	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0110240103846688	0.27
18	254366	A	G	18	254366	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.31007111157048E-4	0.018
18	254366	A	T	18	254366	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0397762337794173	0.242
18	254367	A	C	18	254367	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00108243870442463	0.296
18	254367	A	G	18	254367	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.5294078591199E-5	0.008
18	254367	A	T	18	254367	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.46023402733488E-4	0.282
18	259172	A	C	18	259172	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.2732130555935E-4	0.014
18	259172	A	G	18	259172	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.45235216632395E-4	0.008
18	259172	A	T	18	259172	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.77081522621141E-4	0.012
18	259173	A	C	18	259173	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.88864756717333E-4	0.004
18	259173	A	G	18	259173	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.88864756717333E-4	0.014
18	259173	A	T	18	259173	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.96306940581672E-4	0.006
18	259174	G	A	18	259174	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.73688778528699E-5	0.004
18	259174	G	C	18	259174	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.18340414933578E-4	0.03
18	259174	G	T	18	259174	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.31048144992459E-5	0.006
18	259175	C	A	18	259175	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.975580664496331	0.688
18	259175	C	G	18	259175	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.867221266078852	0.594
18	259175	C	T	18	259175	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.987255743796425	0.674
18	259176	T	A	18	259176	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0795065061092091	0.268
18	259176	T	C	18	259176	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.22723993216754	0.31
18	259176	T	G	18	259176	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.134486169385709	0.322
18	259177	T	A	18	259177	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.918579922021969	0.61
18	259177	T	C	18	259177	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.60163187314727E-4	0.062
18	259177	T	G	18	259177	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.547260287610717	0.53
18	259178	A	C	18	259178	y	y	splicing	THOC1(NM_005131:exon8:c.520+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.520+2T>G;ENST00000580038:exon8:c.520+2T>G;ENST00000581269:exon7:c.453+2T>G)	.	.	0.999988247793601	0.93
18	259178	A	G	18	259178	y	y	splicing	THOC1(NM_005131:exon8:c.520+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.520+2T>C;ENST00000580038:exon8:c.520+2T>C;ENST00000581269:exon7:c.453+2T>C)	.	.	0.98918007292081	0.682
18	259178	A	T	18	259178	y	y	splicing	THOC1(NM_005131:exon8:c.520+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.520+2T>A;ENST00000580038:exon8:c.520+2T>A;ENST00000581269:exon7:c.453+2T>A)	.	.	0.999988247793601	0.93
18	259179	C	A	18	259179	y	y	splicing	THOC1(NM_005131:exon8:c.520+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.520+1G>T;ENST00000580038:exon8:c.520+1G>T;ENST00000581269:exon7:c.453+1G>T)	.	.	0.999990361384395	0.936
18	259179	C	G	18	259179	y	y	splicing	THOC1(NM_005131:exon8:c.520+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.520+1G>C;ENST00000580038:exon8:c.520+1G>C;ENST00000581269:exon7:c.453+1G>C)	.	.	0.999990361384395	0.936
18	259179	C	T	18	259179	y	y	splicing	THOC1(NM_005131:exon8:c.520+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.520+1G>A;ENST00000580038:exon8:c.520+1G>A;ENST00000581269:exon7:c.453+1G>A)	.	.	0.999990361384395	0.936
18	259180	C	A	18	259180	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.G520T:p.G174C;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon7:c.G520T:p.G174C;ENSG00000079134:ENST00000580038:exon7:c.G520T:p.G174C;	0.997306048722686	0.95
18	259180	C	G	18	259180	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.G520C:p.G174R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon7:c.G520C:p.G174R;ENSG00000079134:ENST00000580038:exon7:c.G520C:p.G174R;	0.998977543853484	0.918
18	259180	C	T	18	259180	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.G520A:p.G174S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon7:c.G520A:p.G174S;ENSG00000079134:ENST00000580038:exon7:c.G520A:p.G174S;	0.99308890383768	0.876
18	259181	T	A	18	259181	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon7:c.A519T:p.S173S;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon7:c.A519T:p.S173S;ENSG00000079134:ENST00000580038:exon7:c.A519T:p.S173S;	0.0809618707937926	0.326
18	259181	T	C	18	259181	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon7:c.A519G:p.S173S;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon7:c.A519G:p.S173S;ENSG00000079134:ENST00000580038:exon7:c.A519G:p.S173S;	0.118679152021364	0.256
18	259181	T	G	18	259181	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon7:c.A519C:p.S173S;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000261600:exon7:c.A519C:p.S173S;ENSG00000079134:ENST00000580038:exon7:c.A519C:p.S173S;	0.0874559674209348	0.4
18	259182	G	A	18	259182	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.C518T:p.S173L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon7:c.C518T:p.S173L;ENSG00000079134:ENST00000580038:exon7:c.C518T:p.S173L;	0.997966578162384	0.716
18	259182	G	C	18	259182	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon7:c.C518G:p.S173X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon7:c.C518G:p.S173X;ENSG00000079134:ENST00000580038:exon7:c.C518G:p.S173X;	0.940255252415645	0.628
18	259182	G	T	18	259182	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon7:c.C518A:p.S173X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon7:c.C518A:p.S173X;ENSG00000079134:ENST00000580038:exon7:c.C518A:p.S173X;	0.969833736589811	0.792
18	259274	A	C	18	259274	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.T426G:p.D142E;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon6:c.T359G:p.I120S;ENSG00000079134:ENST00000261600:exon7:c.T426G:p.D142E;ENSG00000079134:ENST00000580038:exon7:c.T426G:p.D142E;	0.023695263448847	0.18
18	259274	A	G	18	259274	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon7:c.T426C:p.D142D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon6:c.T359C:p.I120T;	0.00739518155942169	0.194
18	259274	A	T	18	259274	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.T426A:p.D142E;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon6:c.T359A:p.I120N;ENSG00000079134:ENST00000261600:exon7:c.T426A:p.D142E;ENSG00000079134:ENST00000580038:exon7:c.T426A:p.D142E;	0.0184605378876399	0.196
18	259275	T	A	18	259275	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.A425T:p.D142V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon6:c.A358T:p.I120F;ENSG00000079134:ENST00000261600:exon7:c.A425T:p.D142V;ENSG00000079134:ENST00000580038:exon7:c.A425T:p.D142V;	0.0282472167698634	0.232
18	259275	T	C	18	259275	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.A425G:p.D142G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon6:c.A358G:p.I120V;ENSG00000079134:ENST00000261600:exon7:c.A425G:p.D142G;ENSG00000079134:ENST00000580038:exon7:c.A425G:p.D142G;	9.62018115957044E-4	0.026
18	259275	T	G	18	259275	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon7:c.A425C:p.D142A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon6:c.A358C:p.I120L;ENSG00000079134:ENST00000261600:exon7:c.A425C:p.D142A;ENSG00000079134:ENST00000580038:exon7:c.A425C:p.D142A;	0.0852072866554788	0.292
18	259276	C	A	18	259276	y	y	splicing	THOC1(NM_005131:exon8:c.425-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.425-1G>T;ENST00000580038:exon8:c.425-1G>T;ENST00000581269:exon7:c.358-1G>T;ENST00000581116:exon9:c.467-1G>T)	.	.	0.999964382657683	0.894
18	259276	C	G	18	259276	y	y	splicing	THOC1(NM_005131:exon8:c.425-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.425-1G>C;ENST00000580038:exon8:c.425-1G>C;ENST00000581269:exon7:c.358-1G>C;ENST00000581116:exon9:c.467-1G>C)	.	.	0.99996067433903	0.892
18	259276	C	T	18	259276	y	y	splicing	THOC1(NM_005131:exon8:c.425-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.425-1G>A;ENST00000580038:exon8:c.425-1G>A;ENST00000581269:exon7:c.358-1G>A;ENST00000581116:exon9:c.467-1G>A)	.	.	0.999965298798082	0.916
18	259277	T	A	18	259277	y	y	splicing	THOC1(NM_005131:exon8:c.425-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.425-2A>T;ENST00000580038:exon8:c.425-2A>T;ENST00000581269:exon7:c.358-2A>T;ENST00000581116:exon9:c.467-2A>T)	.	.	0.99995820954749	0.85
18	259277	T	C	18	259277	y	y	splicing	THOC1(NM_005131:exon8:c.425-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.425-2A>G;ENST00000580038:exon8:c.425-2A>G;ENST00000581269:exon7:c.358-2A>G;ENST00000581116:exon9:c.467-2A>G)	.	.	0.99995820954749	0.818
18	259277	T	G	18	259277	y	y	splicing	THOC1(NM_005131:exon8:c.425-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon8:c.425-2A>C;ENST00000580038:exon8:c.425-2A>C;ENST00000581269:exon7:c.358-2A>C;ENST00000581116:exon9:c.467-2A>C)	.	.	0.99995820954749	0.82
18	259278	A	C	18	259278	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.992837304303926	0.644
18	259278	A	G	18	259278	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.33357456806543E-4	0.03
18	259278	A	T	18	259278	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.546496025412296	0.492
18	259279	A	C	18	259279	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.2045010180564E-4	0.04
18	259279	A	G	18	259279	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.18899825768859E-5	0.062
18	259279	A	T	18	259279	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.50262492811437E-5	0.002
18	259280	C	A	18	259280	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.50531207643698E-5	0.024
18	259280	C	G	18	259280	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.9805855037675E-5	0.036
18	259280	C	T	18	259280	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.06057305274838E-5	0.03
18	259281	A	C	18	259281	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00200018192180026	0.244
18	259281	A	G	18	259281	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.54553588235362E-5	0.044
18	259281	A	T	18	259281	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.990297255699854	0.654
18	259282	A	C	18	259282	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999932560393924	0.772
18	259282	A	G	18	259282	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.80999655857092E-4	0.05
18	259282	A	T	18	259282	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00270821758339519	0.222
18	259283	T	A	18	259283	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.69732278597666E-5	0.044
18	259283	T	C	18	259283	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.17923941283081E-5	0.034
18	259283	T	G	18	259283	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.51513655012627E-4	0.04
18	259284	A	C	18	259284	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999904294149289	0.89
18	259284	A	G	18	259284	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.35735793582733E-4	0.072
18	259284	A	T	18	259284	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0079529313535105	0.446
18	259285	T	A	18	259285	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.01483824891928E-4	0.208
18	259285	T	C	18	259285	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.2149624138203E-5	0.164
18	259285	T	G	18	259285	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.3075101425546E-4	0.136
18	259286	A	C	18	259286	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999820289902217	0.744
18	259286	A	G	18	259286	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0020926129254259	0.14
18	259286	A	T	18	259286	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.053592734928426	0.552
18	259287	T	A	18	259287	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.8612546999527E-5	0.044
18	259287	T	C	18	259287	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.57319696462052E-5	0.064
18	259287	T	G	18	259287	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.32186368474212E-5	0.004
18	259674	T	A	18	259674	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.06407420733308E-4	0.008
18	259674	T	C	18	259674	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.06407420733308E-4	0.0
18	259674	T	G	18	259674	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.06407420733308E-4	0.0
18	259675	T	A	18	259675	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.256915070725E-5	0.002
18	259675	T	C	18	259675	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.256915070725E-5	0.0
18	259675	T	G	18	259675	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.256915070725E-5	0.0
18	259676	A	C	18	259676	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0763950215506811	0.312
18	259676	A	G	18	259676	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.38091565557932	0.382
18	259676	A	T	18	259676	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.587424598306419	0.448
18	259677	C	A	18	259677	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999016123983085	0.914
18	259677	C	G	18	259677	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.994907897832929	0.884
18	259677	C	T	18	259677	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999285025939797	0.932
18	259678	T	A	18	259678	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.319282155949083	0.256
18	259678	T	C	18	259678	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.180923333085547	0.328
18	259678	T	G	18	259678	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0750507190715595	0.224
18	259679	T	A	18	259679	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.986149767040562	0.782
18	259679	T	C	18	259679	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.183855246964376	0.222
18	259679	T	G	18	259679	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.996555174423022	0.9
18	259680	A	C	18	259680	y	y	splicing	THOC1(NM_005131:exon7:c.424+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.424+2T>G;ENST00000580038:exon7:c.424+2T>G;ENST00000581269:exon6:c.357+2T>G;ENST00000581116:exon8:c.466+2T>G)	.	.	0.999989917668626	0.926
18	259680	A	G	18	259680	y	y	splicing	THOC1(NM_005131:exon7:c.424+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.424+2T>C;ENST00000580038:exon7:c.424+2T>C;ENST00000581269:exon6:c.357+2T>C;ENST00000581116:exon8:c.466+2T>C)	.	.	0.990945634311904	0.624
18	259680	A	T	18	259680	y	y	splicing	THOC1(NM_005131:exon7:c.424+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.424+2T>A;ENST00000580038:exon7:c.424+2T>A;ENST00000581269:exon6:c.357+2T>A;ENST00000581116:exon8:c.466+2T>A)	.	.	0.999989917668626	0.926
18	259681	C	A	18	259681	y	y	splicing	THOC1(NM_005131:exon7:c.424+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.424+1G>T;ENST00000580038:exon7:c.424+1G>T;ENST00000581269:exon6:c.357+1G>T;ENST00000581116:exon8:c.466+1G>T)	.	.	0.999986675681007	0.934
18	259681	C	G	18	259681	y	y	splicing	THOC1(NM_005131:exon7:c.424+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.424+1G>C;ENST00000580038:exon7:c.424+1G>C;ENST00000581269:exon6:c.357+1G>C;ENST00000581116:exon8:c.466+1G>C)	.	.	0.999986675681007	0.934
18	259681	C	T	18	259681	y	y	splicing	THOC1(NM_005131:exon7:c.424+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.424+1G>A;ENST00000580038:exon7:c.424+1G>A;ENST00000581269:exon6:c.357+1G>A;ENST00000581116:exon8:c.466+1G>A)	.	.	0.999986675681007	0.934
18	259682	C	A	18	259682	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.G424T:p.D142Y;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.G357T:p.M119I;ENSG00000079134:ENST00000261600:exon6:c.G424T:p.D142Y;ENSG00000079134:ENST00000580038:exon6:c.G424T:p.D142Y;	0.999646547142994	0.96
18	259682	C	G	18	259682	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.G424C:p.D142H;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.G357C:p.M119I;ENSG00000079134:ENST00000261600:exon6:c.G424C:p.D142H;ENSG00000079134:ENST00000580038:exon6:c.G424C:p.D142H;	0.999751045054457	0.94
18	259682	C	T	18	259682	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.G424A:p.D142N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.G357A:p.M119I;ENSG00000079134:ENST00000261600:exon6:c.G424A:p.D142N;ENSG00000079134:ENST00000580038:exon6:c.G424A:p.D142N;	0.999764411780707	0.954
18	259683	A	C	18	259683	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.T423G:p.N141K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.T356G:p.M119R;ENSG00000079134:ENST00000261600:exon6:c.T423G:p.N141K;ENSG00000079134:ENST00000580038:exon6:c.T423G:p.N141K;	0.00929673440710714	0.148
18	259683	A	G	18	259683	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon6:c.T423C:p.N141N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.T356C:p.M119T;	0.00548736055988938	0.092
18	259683	A	T	18	259683	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.T423A:p.N141K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.T356A:p.M119K;ENSG00000079134:ENST00000261600:exon6:c.T423A:p.N141K;ENSG00000079134:ENST00000580038:exon6:c.T423A:p.N141K;	0.00411247173616589	0.078
18	259684	T	A	18	259684	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A422T:p.N141I;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.A355T:p.M119L;ENSG00000079134:ENST00000261600:exon6:c.A422T:p.N141I;ENSG00000079134:ENST00000580038:exon6:c.A422T:p.N141I;	0.897981684110922	0.42
18	259684	T	C	18	259684	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A422G:p.N141S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.A355G:p.M119V;ENSG00000079134:ENST00000261600:exon6:c.A422G:p.N141S;ENSG00000079134:ENST00000580038:exon6:c.A422G:p.N141S;	0.0168358556043694	0.102
18	259684	T	G	18	259684	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A422C:p.N141T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.A355C:p.M119L;ENSG00000079134:ENST00000261600:exon6:c.A422C:p.N141T;ENSG00000079134:ENST00000580038:exon6:c.A422C:p.N141T;	0.0179962313251922	0.126
18	259729	T	A	18	259729	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A377T:p.N126I;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.A310T:p.I104L;ENSG00000079134:ENST00000261600:exon6:c.A377T:p.N126I;ENSG00000079134:ENST00000580038:exon6:c.A377T:p.N126I;	6.83714671922231E-4	0.064
18	259729	T	C	18	259729	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A377G:p.N126S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.A310G:p.I104V;ENSG00000079134:ENST00000261600:exon6:c.A377G:p.N126S;ENSG00000079134:ENST00000580038:exon6:c.A377G:p.N126S;	0.00312556047990111	0.026
18	259729	T	G	18	259729	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A377C:p.N126T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.A310C:p.I104L;ENSG00000079134:ENST00000261600:exon6:c.A377C:p.N126T;ENSG00000079134:ENST00000580038:exon6:c.A377C:p.N126T;	0.00677247554235471	0.098
18	259730	T	A	18	259730	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A376T:p.N126Y;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.A309T:p.Q103H;ENSG00000079134:ENST00000261600:exon6:c.A376T:p.N126Y;ENSG00000079134:ENST00000580038:exon6:c.A376T:p.N126Y;	0.389262621919207	0.46
18	259730	T	C	18	259730	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A376G:p.N126D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon6:c.A376G:p.N126D;ENSG00000079134:ENST00000580038:exon6:c.A376G:p.N126D;	0.00151799070209829	0.02
18	259730	T	G	18	259730	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon6:c.A376C:p.N126H;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon5:c.A309C:p.Q103H;ENSG00000079134:ENST00000261600:exon6:c.A376C:p.N126H;ENSG00000079134:ENST00000580038:exon6:c.A376C:p.N126H;	0.209313611453839	0.356
18	259731	C	A	18	259731	y	y	splicing	THOC1(NM_005131:exon7:c.376-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.376-1G>T;ENST00000580038:exon7:c.376-1G>T;ENST00000581269:exon6:c.309-1G>T;ENST00000581116:exon8:c.418-1G>T)	.	.	0.999984967332678	0.938
18	259731	C	G	18	259731	y	y	splicing	THOC1(NM_005131:exon7:c.376-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.376-1G>C;ENST00000580038:exon7:c.376-1G>C;ENST00000581269:exon6:c.309-1G>C;ENST00000581116:exon8:c.418-1G>C)	.	.	0.999984967332678	0.938
18	259731	C	T	18	259731	y	y	splicing	THOC1(NM_005131:exon7:c.376-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.376-1G>A;ENST00000580038:exon7:c.376-1G>A;ENST00000581269:exon6:c.309-1G>A;ENST00000581116:exon8:c.418-1G>A)	.	.	0.999984967332678	0.938
18	259732	T	A	18	259732	y	y	splicing	THOC1(NM_005131:exon7:c.376-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.376-2A>T;ENST00000580038:exon7:c.376-2A>T;ENST00000581269:exon6:c.309-2A>T;ENST00000581116:exon8:c.418-2A>T)	.	.	0.999986741007567	0.942
18	259732	T	C	18	259732	y	y	splicing	THOC1(NM_005131:exon7:c.376-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.376-2A>G;ENST00000580038:exon7:c.376-2A>G;ENST00000581269:exon6:c.309-2A>G;ENST00000581116:exon8:c.418-2A>G)	.	.	0.999986741007567	0.942
18	259732	T	G	18	259732	y	y	splicing	THOC1(NM_005131:exon7:c.376-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon7:c.376-2A>C;ENST00000580038:exon7:c.376-2A>C;ENST00000581269:exon6:c.309-2A>C;ENST00000581116:exon8:c.418-2A>C)	.	.	0.999986741007567	0.942
18	259733	G	A	18	259733	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0557843733632141	0.148
18	259733	G	C	18	259733	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999421371288529	0.854
18	259733	G	T	18	259733	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999682005012353	0.856
18	259734	A	C	18	259734	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.002533379066765	0.176
18	259734	A	G	18	259734	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00126323131886383	0.08
18	259734	A	T	18	259734	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00174119406057902	0.074
18	259735	A	C	18	259735	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.984827409098112	0.758
18	259735	A	G	18	259735	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.493610282197547	0.344
18	259735	A	T	18	259735	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.996407199359284	0.89
18	259736	A	C	18	259736	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999954876777015	0.978
18	259736	A	G	18	259736	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.06459158230241E-4	0.07
18	259736	A	T	18	259736	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.724345514797714	0.722
18	259737	T	A	18	259737	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.55713021563015E-4	0.062
18	259737	T	C	18	259737	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.997455132656419	0.88
18	259737	T	G	18	259737	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.93024641915164E-4	0.024
18	259738	T	A	18	259738	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.55341792457109E-5	0.0
18	259738	T	C	18	259738	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.10606236122502E-5	0.0
18	259738	T	G	18	259738	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.06969575161443E-5	0.0
18	259739	A	C	18	259739	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.997401859995357	0.818
18	259739	A	G	18	259739	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.229755339756102	0.242
18	259739	A	T	18	259739	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998324737570779	0.856
18	259740	A	C	18	259740	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.222255813790712	0.658
18	259740	A	G	18	259740	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.4879556651041E-4	0.072
18	259740	A	T	18	259740	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.215217491018757	0.582
18	259741	G	A	18	259741	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.34975184005673E-4	0.008
18	259741	G	C	18	259741	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00246018015524888	0.054
18	259741	G	T	18	259741	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00286480452234744	0.076
18	259742	A	C	18	259742	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0890823655942873	0.394
18	259742	A	G	18	259742	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0030433052613804	0.096
18	259742	A	T	18	259742	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0623733378780917	0.386
18	260178	G	A	18	260178	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.0069381585729E-5	0.0
18	260178	G	C	18	260178	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.81030243485581E-5	0.002
18	260178	G	T	18	260178	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.77693504419744E-5	0.0
18	260179	C	A	18	260179	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.4082199670183E-5	0.024
18	260179	C	G	18	260179	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.29743962388368E-5	0.106
18	260179	C	T	18	260179	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.33122054230617E-5	0.014
18	260180	A	C	18	260180	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.980099949316142	0.72
18	260180	A	G	18	260180	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.961990373164361	0.814
18	260180	A	T	18	260180	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.946111117076144	0.652
18	260181	C	A	18	260181	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999991425536801	1.0
18	260181	C	G	18	260181	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999993848640733	0.982
18	260181	C	T	18	260181	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999985417230147	1.0
18	260182	T	A	18	260182	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.995899737709965	0.78
18	260182	T	C	18	260182	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.968360213241191	0.864
18	260182	T	G	18	260182	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.968494119703287	0.656
18	260183	T	A	18	260183	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998732726909053	0.926
18	260183	T	C	18	260183	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.332234374595535	0.33
18	260183	T	G	18	260183	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998545661147741	0.904
18	260184	A	C	18	260184	y	y	splicing	THOC1(NM_005131:exon6:c.375+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.375+2T>G;ENST00000580038:exon6:c.375+2T>G;ENST00000581269:exon5:c.308+2T>G;ENST00000581116:exon7:c.417+2T>G)	.	.	0.99994568797423	0.94
18	260184	A	G	18	260184	y	y	splicing	THOC1(NM_005131:exon6:c.375+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.375+2T>C;ENST00000580038:exon6:c.375+2T>C;ENST00000581269:exon5:c.308+2T>C;ENST00000581116:exon7:c.417+2T>C)	.	.	0.999001574484096	0.856
18	260184	A	T	18	260184	y	y	splicing	THOC1(NM_005131:exon6:c.375+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.375+2T>A;ENST00000580038:exon6:c.375+2T>A;ENST00000581269:exon5:c.308+2T>A;ENST00000581116:exon7:c.417+2T>A)	.	.	0.99994568797423	0.93
18	260185	C	A	18	260185	y	y	splicing	THOC1(NM_005131:exon6:c.375+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.375+1G>T;ENST00000580038:exon6:c.375+1G>T;ENST00000581269:exon5:c.308+1G>T;ENST00000581116:exon7:c.417+1G>T)	.	.	0.999976137096505	0.928
18	260185	C	G	18	260185	y	y	splicing	THOC1(NM_005131:exon6:c.375+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.375+1G>C;ENST00000580038:exon6:c.375+1G>C;ENST00000581269:exon5:c.308+1G>C;ENST00000581116:exon7:c.417+1G>C)	.	.	0.999938422912956	0.926
18	260185	C	T	18	260185	y	y	splicing	THOC1(NM_005131:exon6:c.375+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.375+1G>A;ENST00000580038:exon6:c.375+1G>A;ENST00000581269:exon5:c.308+1G>A;ENST00000581116:exon7:c.417+1G>A)	.	.	0.999976137096505	0.934
18	260186	T	A	18	260186	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon5:c.A375T:p.S125S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.A308T:p.Q103L;	3.03292262719154E-4	0.042
18	260186	T	C	18	260186	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon5:c.A375G:p.S125S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.A308G:p.Q103R;	3.83902876635707E-5	0.016
18	260186	T	G	18	260186	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon5:c.A375C:p.S125S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.A308C:p.Q103P;	3.71617895928079E-5	0.004
18	260187	G	A	18	260187	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon5:c.C374T:p.S125L;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000581269:exon4:c.C307T:p.Q103X;	0.990341167708496	0.908
18	260187	G	C	18	260187	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon5:c.C374G:p.S125X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon5:c.C374G:p.S125X;ENSG00000079134:ENST00000580038:exon5:c.C374G:p.S125X;	0.987329186196508	0.952
18	260187	G	T	18	260187	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon5:c.C374A:p.S125X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000261600:exon5:c.C374A:p.S125X;ENSG00000079134:ENST00000580038:exon5:c.C374A:p.S125X;	0.97749892530778	0.724
18	260188	A	C	18	260188	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon5:c.T373G:p.S125A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.T306G:p.N102K;ENSG00000079134:ENST00000261600:exon5:c.T373G:p.S125A;ENSG00000079134:ENST00000580038:exon5:c.T373G:p.S125A;	0.0031656676212531	0.018
18	260188	A	G	18	260188	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon5:c.T373C:p.S125P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000261600:exon5:c.T373C:p.S125P;ENSG00000079134:ENST00000580038:exon5:c.T373C:p.S125P;	0.664590678538471	0.624
18	260188	A	T	18	260188	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon5:c.T373A:p.S125T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.T306A:p.N102K;ENSG00000079134:ENST00000261600:exon5:c.T373A:p.S125T;ENSG00000079134:ENST00000580038:exon5:c.T373A:p.S125T;	0.00493052849475718	0.022
18	260303	A	C	18	260303	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon5:c.T258G:p.G86G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.T191G:p.V64G;	0.006610226283408	0.154
18	260303	A	G	18	260303	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon5:c.T258C:p.G86G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.T191C:p.V64A;	0.00370980939274808	0.162
18	260303	A	T	18	260303	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon5:c.T258A:p.G86G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.T191A:p.V64E;	0.00661736056009208	0.13
18	260304	C	A	18	260304	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon5:c.G257T:p.G86V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.G190T:p.V64L;ENSG00000079134:ENST00000261600:exon5:c.G257T:p.G86V;ENSG00000079134:ENST00000580038:exon5:c.G257T:p.G86V;	0.99635625306679	0.75
18	260304	C	G	18	260304	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon5:c.G257C:p.G86A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.G190C:p.V64L;ENSG00000079134:ENST00000261600:exon5:c.G257C:p.G86A;ENSG00000079134:ENST00000580038:exon5:c.G257C:p.G86A;	0.764201046410241	0.574
18	260304	C	T	18	260304	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon5:c.G257A:p.G86D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon4:c.G190A:p.V64I;ENSG00000079134:ENST00000261600:exon5:c.G257A:p.G86D;ENSG00000079134:ENST00000580038:exon5:c.G257A:p.G86D;	0.810212339211082	0.564
18	260305	C	A	18	260305	y	y	splicing	THOC1(NM_005131:exon6:c.257-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.257-1G>T;ENST00000580038:exon6:c.257-1G>T;ENST00000581269:exon5:c.190-1G>T;ENST00000581116:exon7:c.299-1G>T)	.	.	0.999931554386267	0.732
18	260305	C	G	18	260305	y	y	splicing	THOC1(NM_005131:exon6:c.257-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.257-1G>C;ENST00000580038:exon6:c.257-1G>C;ENST00000581269:exon5:c.190-1G>C;ENST00000581116:exon7:c.299-1G>C)	.	.	0.999931554386267	0.744
18	260305	C	T	18	260305	y	y	splicing	THOC1(NM_005131:exon6:c.257-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.257-1G>A;ENST00000580038:exon6:c.257-1G>A;ENST00000581269:exon5:c.190-1G>A;ENST00000581116:exon7:c.299-1G>A)	.	.	0.999971989628192	0.766
18	260306	T	A	18	260306	y	y	splicing	THOC1(NM_005131:exon6:c.257-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.257-2A>T;ENST00000580038:exon6:c.257-2A>T;ENST00000581269:exon5:c.190-2A>T;ENST00000581116:exon7:c.299-2A>T)	.	.	0.99997529447911	0.776
18	260306	T	C	18	260306	y	y	splicing	THOC1(NM_005131:exon6:c.257-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.257-2A>G;ENST00000580038:exon6:c.257-2A>G;ENST00000581269:exon5:c.190-2A>G;ENST00000581116:exon7:c.299-2A>G)	.	.	0.99997529447911	0.778
18	260306	T	G	18	260306	y	y	splicing	THOC1(NM_005131:exon6:c.257-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon6:c.257-2A>C;ENST00000580038:exon6:c.257-2A>C;ENST00000581269:exon5:c.190-2A>C;ENST00000581116:exon7:c.299-2A>C)	.	.	0.99997529447911	0.778
18	260307	T	A	18	260307	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.41394928823114E-5	0.006
18	260307	T	C	18	260307	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0637313201007251	0.444
18	260307	T	G	18	260307	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.40084152042061E-4	0.116
18	260308	C	A	18	260308	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.11531349391012E-5	0.03
18	260308	C	G	18	260308	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.66004680030769E-5	0.03
18	260308	C	T	18	260308	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.68500932320092E-5	0.026
18	260309	A	C	18	260309	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.939210083742929	0.622
18	260309	A	G	18	260309	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0282454876322184	0.206
18	260309	A	T	18	260309	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999908083038803	0.944
18	260310	A	C	18	260310	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.212176053053425	0.52
18	260310	A	G	18	260310	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.03889889939176E-4	0.056
18	260310	A	T	18	260310	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.127262090907706	0.47
18	260311	G	A	18	260311	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.57114455631386E-5	0.016
18	260311	G	C	18	260311	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999919162336153	0.944
18	260311	G	T	18	260311	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00128314647797318	0.126
18	260312	T	A	18	260312	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.75722115986829E-5	0.004
18	260312	T	C	18	260312	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.71523132836499E-5	0.008
18	260312	T	G	18	260312	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.58944063277681E-4	0.024
18	260313	G	A	18	260313	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.61925465232383E-4	0.008
18	260313	G	C	18	260313	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0012364937291458	0.102
18	260313	G	T	18	260313	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00246834242612842	0.11
18	260314	G	A	18	260314	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.70491301900755E-4	0.006
18	260314	G	C	18	260314	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00149548854617825	0.05
18	260314	G	T	18	260314	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00138105075510167	0.054
18	260315	A	C	18	260315	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.355404744072756	0.42
18	260315	A	G	18	260315	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00118550345006786	0.052
18	260315	A	T	18	260315	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.581884481762587	0.492
18	260316	G	A	18	260316	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.57965531367951E-4	0.004
18	260316	G	C	18	260316	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00421972843502256	0.112
18	260316	G	T	18	260316	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00874267026677661	0.102
18	260710	A	C	18	260710	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00143706269961617	0.014
18	260710	A	G	18	260710	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00267205389289002	0.014
18	260710	A	T	18	260710	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00252104886830013	0.042
18	260711	T	A	18	260711	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.49796293032824E-4	0.018
18	260711	T	C	18	260711	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.5651062100244E-4	0.016
18	260711	T	G	18	260711	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.5651062100244E-4	0.016
18	260712	A	C	18	260712	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.66968258928897E-4	0.018
18	260712	A	G	18	260712	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.66968258928897E-4	0.012
18	260712	A	T	18	260712	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.5651062100244E-4	0.008
18	260713	C	A	18	260713	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.03334260509943E-4	0.002
18	260713	C	G	18	260713	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.75601339768284E-5	0.002
18	260713	C	T	18	260713	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.03334260509943E-4	0.002
18	260714	G	A	18	260714	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.03334260509943E-4	0.004
18	260714	G	C	18	260714	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.09218706544067E-5	0.004
18	260714	G	T	18	260714	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.09218706544067E-5	0.004
18	260715	A	C	18	260715	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.72890108684876E-4	0.008
18	260715	A	G	18	260715	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.72890108684876E-4	0.008
18	260715	A	T	18	260715	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.30885520825861E-4	0.02
18	260716	A	C	18	260716	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.298+2T>G)	.	.	2.15541995353299E-4	0.006
18	260716	A	G	18	260716	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.298+2T>C)	.	.	2.15541995353299E-4	0.006
18	260716	A	T	18	260716	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.298+2T>A)	.	.	2.77189841194163E-4	0.006
18	260717	C	A	18	260717	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.298+1G>T)	.	.	9.16811292047004E-4	0.004
18	260717	C	G	18	260717	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.298+1G>C)	.	.	9.16811292047004E-4	0.02
18	260717	C	T	18	260717	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.298+1G>A)	.	.	9.07282077208958E-4	0.014
18	260718	C	A	18	260718	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.00168112165961349	0.012
18	260718	C	G	18	260718	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.00168112165961349	0.016
18	260718	C	T	18	260718	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.0016992655106263	0.02
18	260719	C	A	18	260719	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.00113359844054187	0.01
18	260719	C	G	18	260719	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.00113359844054187	0.014
18	260719	C	T	18	260719	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.0014521479695842	0.01
18	260720	A	C	18	260720	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.00152067379830319	0.008
18	260720	A	G	18	260720	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.00152067379830319	0.008
18	260720	A	T	18	260720	n	y	intronic	THOC1	.	.	UTR3	ENSG00000079134	.	.	0.00194778225720758	0.008
18	260758	A	C	18	260758	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581116:exon5:c.T258G:p.A86A;	0.00368760656317656	0.024
18	260758	A	G	18	260758	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581116:exon5:c.T258C:p.A86A;	0.00368760656317656	0.026
18	260758	A	T	18	260758	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581116:exon5:c.T258A:p.A86A;	0.00375954796434019	0.038
18	260759	G	A	18	260759	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon5:c.C257T:p.A86V;	9.16811292047004E-4	0.052
18	260759	G	C	18	260759	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon5:c.C257G:p.A86G;	8.19822057903476E-4	0.004
18	260759	G	T	18	260759	n	y	intronic	THOC1	.	.	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon5:c.C257A:p.A86D;	8.19822057903476E-4	0.018
18	260760	C	A	18	260760	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.257-1G>T)	.	.	1.46226529156369E-4	0.004
18	260760	C	G	18	260760	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.257-1G>C)	.	.	1.46226529156369E-4	0.004
18	260760	C	T	18	260760	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.257-1G>A)	.	.	1.32658667526046E-4	0.002
18	260761	T	A	18	260761	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.257-2A>T)	.	.	0.0678445364386315	0.452
18	260761	T	C	18	260761	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.257-2A>G)	.	.	0.0262583842809432	0.46
18	260761	T	G	18	260761	n	y	intronic	THOC1	.	.	splicing	ENSG00000079134(ENST00000581116:exon6:c.257-2A>C)	.	.	0.0262583842809432	0.46
18	260762	A	C	18	260762	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00252104886830013	0.022
18	260762	A	G	18	260762	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00252104886830013	0.022
18	260762	A	T	18	260762	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00252104886830013	0.026
18	260763	T	A	18	260763	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.36775662931485E-4	0.06
18	260763	T	C	18	260763	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.36775662931485E-4	0.02
18	260763	T	G	18	260763	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.36775662931485E-4	0.02
18	260764	T	A	18	260764	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00375954796434019	0.028
18	260764	T	C	18	260764	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00372622871008222	0.024
18	260764	T	G	18	260764	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00372622871008222	0.028
18	260765	C	A	18	260765	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.07902708129146E-4	0.004
18	260765	C	G	18	260765	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.5908222467397E-5	0.002
18	260765	C	T	18	260765	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.07902708129146E-4	0.014
18	260766	A	C	18	260766	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.66777610808291E-4	0.04
18	260766	A	G	18	260766	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.01927653344597E-4	0.008
18	260766	A	T	18	260766	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.43316455251951E-4	0.0
18	260767	A	C	18	260767	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00372622871008222	0.022
18	260767	A	G	18	260767	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00372622871008222	0.022
18	260767	A	T	18	260767	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00368760656317656	0.028
18	260768	A	C	18	260768	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.2052276711464E-5	0.032
18	260768	A	G	18	260768	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.2052276711464E-5	0.032
18	260768	A	T	18	260768	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.2052276711464E-5	0.042
18	260769	A	C	18	260769	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.94531140972216E-5	0.032
18	260769	A	G	18	260769	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.94531140972216E-5	0.032
18	260769	A	T	18	260769	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.94531140972216E-5	0.048
18	260770	G	A	18	260770	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.804393486236398	0.742
18	260770	G	C	18	260770	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.582570110268401	0.61
18	260770	G	T	18	260770	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.76211027282728	0.7
18	260771	A	C	18	260771	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.143958180273623	0.618
18	260771	A	G	18	260771	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.143958180273623	0.618
18	260771	A	T	18	260771	n	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.297305992836593	0.7
18	264018	A	C	18	264018	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.07841674183357E-4	0.004
18	264018	A	G	18	264018	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.07841674183357E-4	0.008
18	264018	A	T	18	264018	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.63629494390912E-4	0.006
18	264019	T	A	18	264019	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.55989938170922E-5	0.002
18	264019	T	C	18	264019	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.55989938170922E-5	0.002
18	264019	T	G	18	264019	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.48293208623238E-5	0.002
18	264020	A	C	18	264020	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00530153786706244	0.192
18	264020	A	G	18	264020	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0236129759281943	0.272
18	264020	A	T	18	264020	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0212013875427537	0.308
18	264021	C	A	18	264021	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.796330419241717	0.546
18	264021	C	G	18	264021	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.690830429014763	0.48
18	264021	C	T	18	264021	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.780538456974043	0.514
18	264022	T	A	18	264022	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0245088411456214	0.252
18	264022	T	C	18	264022	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0268781648053624	0.268
18	264022	T	G	18	264022	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0272695037183596	0.27
18	264023	T	A	18	264023	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.630229914693731	0.498
18	264023	T	C	18	264023	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0347629168610421	0.182
18	264023	T	G	18	264023	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.483632461161876	0.462
18	264024	A	C	18	264024	y	y	splicing	THOC1(NM_005131:exon5:c.256+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.256+2T>G;ENST00000580038:exon5:c.256+2T>G;ENST00000581116:exon5:c.256+2T>G)	.	.	0.99994568797423	0.948
18	264024	A	G	18	264024	y	y	splicing	THOC1(NM_005131:exon5:c.256+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.256+2T>C;ENST00000580038:exon5:c.256+2T>C;ENST00000581116:exon5:c.256+2T>C)	.	.	0.971063256766672	0.714
18	264024	A	T	18	264024	y	y	splicing	THOC1(NM_005131:exon5:c.256+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.256+2T>A;ENST00000580038:exon5:c.256+2T>A;ENST00000581116:exon5:c.256+2T>A)	.	.	0.99994568797423	0.944
18	264025	C	A	18	264025	y	y	splicing	THOC1(NM_005131:exon5:c.256+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.256+1G>T;ENST00000580038:exon5:c.256+1G>T;ENST00000581116:exon5:c.256+1G>T)	.	.	0.99995545544995	0.944
18	264025	C	G	18	264025	y	y	splicing	THOC1(NM_005131:exon5:c.256+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.256+1G>C;ENST00000580038:exon5:c.256+1G>C;ENST00000581116:exon5:c.256+1G>C)	.	.	0.99995545544995	0.944
18	264025	C	T	18	264025	y	y	splicing	THOC1(NM_005131:exon5:c.256+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.256+1G>A;ENST00000580038:exon5:c.256+1G>A;ENST00000581116:exon5:c.256+1G>A)	.	.	0.99995545544995	0.936
18	264026	C	A	18	264026	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.G256T:p.G86C;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.G256T:p.A86S;ENSG00000079134:ENST00000261600:exon4:c.G256T:p.G86C;ENSG00000079134:ENST00000580038:exon4:c.G256T:p.G86C;	0.667490450023873	0.514
18	264026	C	G	18	264026	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.G256C:p.G86R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.G256C:p.A86P;ENSG00000079134:ENST00000261600:exon4:c.G256C:p.G86R;ENSG00000079134:ENST00000580038:exon4:c.G256C:p.G86R;	0.6868598646533	0.528
18	264026	C	T	18	264026	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.G256A:p.G86S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.G256A:p.A86T;ENSG00000079134:ENST00000261600:exon4:c.G256A:p.G86S;ENSG00000079134:ENST00000580038:exon4:c.G256A:p.G86S;	0.677589286805819	0.468
18	264027	T	A	18	264027	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.A255T:p.E85D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A255T:p.E85D;ENSG00000079134:ENST00000261600:exon4:c.A255T:p.E85D;ENSG00000079134:ENST00000580038:exon4:c.A255T:p.E85D;	0.338431643771006	0.416
18	264027	T	C	18	264027	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon4:c.A255G:p.E85E;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A255G:p.E85E;ENSG00000079134:ENST00000261600:exon4:c.A255G:p.E85E;ENSG00000079134:ENST00000580038:exon4:c.A255G:p.E85E;	0.222115624360666	0.294
18	264027	T	G	18	264027	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.A255C:p.E85D;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A255C:p.E85D;ENSG00000079134:ENST00000261600:exon4:c.A255C:p.E85D;ENSG00000079134:ENST00000580038:exon4:c.A255C:p.E85D;	0.185344358592548	0.424
18	264028	T	A	18	264028	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.A254T:p.E85V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A254T:p.E85V;ENSG00000079134:ENST00000261600:exon4:c.A254T:p.E85V;ENSG00000079134:ENST00000580038:exon4:c.A254T:p.E85V;	0.0175977660314275	0.188
18	264028	T	C	18	264028	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.A254G:p.E85G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A254G:p.E85G;ENSG00000079134:ENST00000261600:exon4:c.A254G:p.E85G;ENSG00000079134:ENST00000580038:exon4:c.A254G:p.E85G;	5.45975020827616E-4	0.036
18	264028	T	G	18	264028	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.A254C:p.E85A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A254C:p.E85A;ENSG00000079134:ENST00000261600:exon4:c.A254C:p.E85A;ENSG00000079134:ENST00000580038:exon4:c.A254C:p.E85A;	3.62583750392645E-4	0.002
18	264091	A	C	18	264091	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.T191G:p.I64R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.T191G:p.I64R;ENSG00000079134:ENST00000261600:exon4:c.T191G:p.I64R;ENSG00000079134:ENST00000580038:exon4:c.T191G:p.I64R;	0.013251854700149	0.226
18	264091	A	G	18	264091	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.T191C:p.I64T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.T191C:p.I64T;ENSG00000079134:ENST00000261600:exon4:c.T191C:p.I64T;ENSG00000079134:ENST00000580038:exon4:c.T191C:p.I64T;	0.00789301154479453	0.2
18	264091	A	T	18	264091	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.T191A:p.I64K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.T191A:p.I64K;ENSG00000079134:ENST00000261600:exon4:c.T191A:p.I64K;ENSG00000079134:ENST00000580038:exon4:c.T191A:p.I64K;	0.0102017569564689	0.242
18	264092	T	A	18	264092	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.A190T:p.I64L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A190T:p.I64L;ENSG00000079134:ENST00000261600:exon4:c.A190T:p.I64L;ENSG00000079134:ENST00000580038:exon4:c.A190T:p.I64L;	0.149151902102402	0.326
18	264092	T	C	18	264092	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.A190G:p.I64V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A190G:p.I64V;ENSG00000079134:ENST00000261600:exon4:c.A190G:p.I64V;ENSG00000079134:ENST00000580038:exon4:c.A190G:p.I64V;	3.86807344000172E-4	0.014
18	264092	T	G	18	264092	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon4:c.A190C:p.I64L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581116:exon4:c.A190C:p.I64L;ENSG00000079134:ENST00000261600:exon4:c.A190C:p.I64L;ENSG00000079134:ENST00000580038:exon4:c.A190C:p.I64L;	0.102746413319374	0.334
18	264093	C	A	18	264093	y	y	splicing	THOC1(NM_005131:exon5:c.190-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.190-1G>T;ENST00000580038:exon5:c.190-1G>T;ENST00000581116:exon5:c.190-1G>T)	.	.	0.999965722254998	0.884
18	264093	C	G	18	264093	y	y	splicing	THOC1(NM_005131:exon5:c.190-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.190-1G>C;ENST00000580038:exon5:c.190-1G>C;ENST00000581116:exon5:c.190-1G>C)	.	.	0.999962153403958	0.89
18	264093	C	T	18	264093	y	y	splicing	THOC1(NM_005131:exon5:c.190-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.190-1G>A;ENST00000580038:exon5:c.190-1G>A;ENST00000581116:exon5:c.190-1G>A)	.	.	0.999966603939759	0.914
18	264094	T	A	18	264094	y	y	splicing	THOC1(NM_005131:exon5:c.190-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.190-2A>T;ENST00000580038:exon5:c.190-2A>T;ENST00000581116:exon5:c.190-2A>T)	.	.	0.999972155025474	0.884
18	264094	T	C	18	264094	y	y	splicing	THOC1(NM_005131:exon5:c.190-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.190-2A>G;ENST00000580038:exon5:c.190-2A>G;ENST00000581116:exon5:c.190-2A>G)	.	.	0.999969255906173	0.858
18	264094	T	G	18	264094	y	y	splicing	THOC1(NM_005131:exon5:c.190-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon5:c.190-2A>C;ENST00000580038:exon5:c.190-2A>C;ENST00000581116:exon5:c.190-2A>C)	.	.	0.999969255906173	0.858
18	264095	A	C	18	264095	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998527780539162	0.702
18	264095	A	G	18	264095	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.71350936155456E-4	0.036
18	264095	A	T	18	264095	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.255781546740882	0.47
18	264096	C	A	18	264096	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00207881400893068	0.066
18	264096	C	G	18	264096	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00115187131009745	0.064
18	264096	C	T	18	264096	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00193653516872586	0.066
18	264097	C	A	18	264097	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00124643339498712	0.104
18	264097	C	G	18	264097	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0011519891620844	0.078
18	264097	C	T	18	264097	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.961756304844338	0.606
18	264098	A	C	18	264098	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0406103523551409	0.422
18	264098	A	G	18	264098	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.39993103623651E-4	0.048
18	264098	A	T	18	264098	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999871065131237	0.956
18	264099	A	C	18	264099	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.255735332431738	0.42
18	264099	A	G	18	264099	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00171817382429768	0.074
18	264099	A	T	18	264099	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.290376023361238	0.434
18	264100	C	A	18	264100	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.36693417339672E-5	0.004
18	264100	C	G	18	264100	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.58467094072679E-4	0.014
18	264100	C	T	18	264100	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.2577486787194E-4	0.112
18	264101	A	C	18	264101	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.494091186278726	0.516
18	264101	A	G	18	264101	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00251411337007021	0.028
18	264101	A	T	18	264101	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999955450207125	0.976
18	264102	G	A	18	264102	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.3404377970847E-4	0.004
18	264102	G	C	18	264102	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0012160038606862	0.036
18	264102	G	T	18	264102	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00108966926896259	0.08
18	264103	A	C	18	264103	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.294335133774691	0.492
18	264103	A	G	18	264103	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.164176516467813	0.416
18	264103	A	T	18	264103	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.887830673139346	0.652
18	264104	G	A	18	264104	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.0488125409034E-5	0.002
18	264104	G	C	18	264104	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00127255222015425	0.072
18	264104	G	T	18	264104	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00149358195670782	0.048
18	265295	A	C	18	265295	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00108269393418164	0.014
18	265295	A	G	18	265295	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00107706304017484	0.028
18	265295	A	T	18	265295	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00108269393418164	0.014
18	265296	T	A	18	265296	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.40391101863758E-4	0.002
18	265296	T	C	18	265296	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.40391101863758E-4	0.002
18	265296	T	G	18	265296	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.40391101863758E-4	0.002
18	265297	A	C	18	265297	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.974985281349965	0.748
18	265297	A	G	18	265297	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.910124466537999	0.662
18	265297	A	T	18	265297	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.963205769316209	0.632
18	265298	C	A	18	265298	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999983873120784	0.968
18	265298	C	G	18	265298	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999994760855254	0.926
18	265298	C	T	18	265298	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999986933278648	0.988
18	265299	T	A	18	265299	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.99468598647267	0.904
18	265299	T	C	18	265299	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.987399425813807	0.894
18	265299	T	G	18	265299	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.995450930851909	0.844
18	265300	T	A	18	265300	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.9998160042126	0.924
18	265300	T	C	18	265300	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0233422039081253	0.218
18	265300	T	G	18	265300	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999717441278118	0.922
18	265301	A	C	18	265301	y	y	splicing	THOC1(NM_005131:exon4:c.189+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.189+2T>G;ENST00000580038:exon4:c.189+2T>G;ENST00000581269:exon4:c.189+2T>G;ENST00000581116:exon4:c.189+2T>G)	.	.	0.999988247793601	0.926
18	265301	A	G	18	265301	y	y	splicing	THOC1(NM_005131:exon4:c.189+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.189+2T>C;ENST00000580038:exon4:c.189+2T>C;ENST00000581269:exon4:c.189+2T>C;ENST00000581116:exon4:c.189+2T>C)	.	.	0.986973409415639	0.614
18	265301	A	T	18	265301	y	y	splicing	THOC1(NM_005131:exon4:c.189+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.189+2T>A;ENST00000580038:exon4:c.189+2T>A;ENST00000581269:exon4:c.189+2T>A;ENST00000581116:exon4:c.189+2T>A)	.	.	0.999988247793601	0.926
18	265302	C	A	18	265302	y	y	splicing	THOC1(NM_005131:exon4:c.189+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.189+1G>T;ENST00000580038:exon4:c.189+1G>T;ENST00000581269:exon4:c.189+1G>T;ENST00000581116:exon4:c.189+1G>T)	.	.	0.999986675681007	0.932
18	265302	C	G	18	265302	y	y	splicing	THOC1(NM_005131:exon4:c.189+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.189+1G>C;ENST00000580038:exon4:c.189+1G>C;ENST00000581269:exon4:c.189+1G>C;ENST00000581116:exon4:c.189+1G>C)	.	.	0.999986675681007	0.932
18	265302	C	T	18	265302	y	y	splicing	THOC1(NM_005131:exon4:c.189+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.189+1G>A;ENST00000580038:exon4:c.189+1G>A;ENST00000581269:exon4:c.189+1G>A;ENST00000581116:exon4:c.189+1G>A)	.	.	0.999986675681007	0.932
18	265303	A	C	18	265303	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.T189G:p.I63M;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T189G:p.I63M;ENSG00000079134:ENST00000581116:exon3:c.T189G:p.I63M;ENSG00000079134:ENST00000261600:exon3:c.T189G:p.I63M;ENSG00000079134:ENST00000580038:exon3:c.T189G:p.I63M;	0.00157216168164682	0.06
18	265303	A	G	18	265303	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon3:c.T189C:p.I63I;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T189C:p.I63I;ENSG00000079134:ENST00000581116:exon3:c.T189C:p.I63I;ENSG00000079134:ENST00000261600:exon3:c.T189C:p.I63I;ENSG00000079134:ENST00000580038:exon3:c.T189C:p.I63I;	0.139946824608442	0.44
18	265303	A	T	18	265303	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon3:c.T189A:p.I63I;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T189A:p.I63I;ENSG00000079134:ENST00000581116:exon3:c.T189A:p.I63I;ENSG00000079134:ENST00000261600:exon3:c.T189A:p.I63I;ENSG00000079134:ENST00000580038:exon3:c.T189A:p.I63I;	0.0409804663957627	0.218
18	265304	A	C	18	265304	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.T188G:p.I63S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T188G:p.I63S;ENSG00000079134:ENST00000581116:exon3:c.T188G:p.I63S;ENSG00000079134:ENST00000261600:exon3:c.T188G:p.I63S;ENSG00000079134:ENST00000580038:exon3:c.T188G:p.I63S;	0.149218648240865	0.26
18	265304	A	G	18	265304	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.T188C:p.I63T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T188C:p.I63T;ENSG00000079134:ENST00000581116:exon3:c.T188C:p.I63T;ENSG00000079134:ENST00000261600:exon3:c.T188C:p.I63T;ENSG00000079134:ENST00000580038:exon3:c.T188C:p.I63T;	0.0151766538714088	0.112
18	265304	A	T	18	265304	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.T188A:p.I63N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T188A:p.I63N;ENSG00000079134:ENST00000581116:exon3:c.T188A:p.I63N;ENSG00000079134:ENST00000261600:exon3:c.T188A:p.I63N;ENSG00000079134:ENST00000580038:exon3:c.T188A:p.I63N;	0.00773833527056598	0.128
18	265305	T	A	18	265305	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.A187T:p.I63F;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.A187T:p.I63F;ENSG00000079134:ENST00000581116:exon3:c.A187T:p.I63F;ENSG00000079134:ENST00000261600:exon3:c.A187T:p.I63F;ENSG00000079134:ENST00000580038:exon3:c.A187T:p.I63F;	0.893065101251795	0.584
18	265305	T	C	18	265305	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.A187G:p.I63V;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.A187G:p.I63V;ENSG00000079134:ENST00000581116:exon3:c.A187G:p.I63V;ENSG00000079134:ENST00000261600:exon3:c.A187G:p.I63V;ENSG00000079134:ENST00000580038:exon3:c.A187G:p.I63V;	0.014646854882527	0.198
18	265305	T	G	18	265305	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.A187C:p.I63L;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.A187C:p.I63L;ENSG00000079134:ENST00000581116:exon3:c.A187C:p.I63L;ENSG00000079134:ENST00000261600:exon3:c.A187C:p.I63L;ENSG00000079134:ENST00000580038:exon3:c.A187C:p.I63L;	0.204659404156866	0.438
18	265362	C	A	18	265362	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon3:c.G130T:p.E44X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000581269:exon3:c.G130T:p.E44X;ENSG00000079134:ENST00000581116:exon3:c.G130T:p.E44X;ENSG00000079134:ENST00000261600:exon3:c.G130T:p.E44X;ENSG00000079134:ENST00000580038:exon3:c.G130T:p.E44X;	0.982035446610515	0.874
18	265362	C	G	18	265362	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.G130C:p.E44Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.G130C:p.E44Q;ENSG00000079134:ENST00000581116:exon3:c.G130C:p.E44Q;ENSG00000079134:ENST00000261600:exon3:c.G130C:p.E44Q;ENSG00000079134:ENST00000580038:exon3:c.G130C:p.E44Q;	0.687323640086719	0.696
18	265362	C	T	18	265362	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.G130A:p.E44K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.G130A:p.E44K;ENSG00000079134:ENST00000581116:exon3:c.G130A:p.E44K;ENSG00000079134:ENST00000261600:exon3:c.G130A:p.E44K;ENSG00000079134:ENST00000580038:exon3:c.G130A:p.E44K;	0.988827099923309	0.72
18	265363	A	C	18	265363	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.T129G:p.S43R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T129G:p.S43R;ENSG00000079134:ENST00000581116:exon3:c.T129G:p.S43R;ENSG00000079134:ENST00000261600:exon3:c.T129G:p.S43R;ENSG00000079134:ENST00000580038:exon3:c.T129G:p.S43R;	0.00105644538854247	0.08
18	265363	A	G	18	265363	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon3:c.T129C:p.S43S;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T129C:p.S43S;ENSG00000079134:ENST00000581116:exon3:c.T129C:p.S43S;ENSG00000079134:ENST00000261600:exon3:c.T129C:p.S43S;ENSG00000079134:ENST00000580038:exon3:c.T129C:p.S43S;	2.32103922852908E-4	0.01
18	265363	A	T	18	265363	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon3:c.T129A:p.S43R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon3:c.T129A:p.S43R;ENSG00000079134:ENST00000581116:exon3:c.T129A:p.S43R;ENSG00000079134:ENST00000261600:exon3:c.T129A:p.S43R;ENSG00000079134:ENST00000580038:exon3:c.T129A:p.S43R;	4.32551534289822E-4	0.0
18	265364	C	A	18	265364	y	y	splicing	THOC1(NM_005131:exon4:c.129-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.129-1G>T;ENST00000580038:exon4:c.129-1G>T;ENST00000581269:exon4:c.129-1G>T;ENST00000581116:exon4:c.129-1G>T)	.	.	0.999990361384395	0.936
18	265364	C	G	18	265364	y	y	splicing	THOC1(NM_005131:exon4:c.129-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.129-1G>C;ENST00000580038:exon4:c.129-1G>C;ENST00000581269:exon4:c.129-1G>C;ENST00000581116:exon4:c.129-1G>C)	.	.	0.999990361384395	0.936
18	265364	C	T	18	265364	y	y	splicing	THOC1(NM_005131:exon4:c.129-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.129-1G>A;ENST00000580038:exon4:c.129-1G>A;ENST00000581269:exon4:c.129-1G>A;ENST00000581116:exon4:c.129-1G>A)	.	.	0.999990361384395	0.936
18	265365	T	A	18	265365	y	y	splicing	THOC1(NM_005131:exon4:c.129-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.129-2A>T;ENST00000580038:exon4:c.129-2A>T;ENST00000581269:exon4:c.129-2A>T;ENST00000581116:exon4:c.129-2A>T)	.	.	0.999988247793601	0.93
18	265365	T	C	18	265365	y	y	splicing	THOC1(NM_005131:exon4:c.129-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.129-2A>G;ENST00000580038:exon4:c.129-2A>G;ENST00000581269:exon4:c.129-2A>G;ENST00000581116:exon4:c.129-2A>G)	.	.	0.999988247793601	0.93
18	265365	T	G	18	265365	y	y	splicing	THOC1(NM_005131:exon4:c.129-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon4:c.129-2A>C;ENST00000580038:exon4:c.129-2A>C;ENST00000581269:exon4:c.129-2A>C;ENST00000581116:exon4:c.129-2A>C)	.	.	0.999988247793601	0.93
18	265366	A	C	18	265366	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.996576135556353	0.704
18	265366	A	G	18	265366	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.15665992212301E-4	0.024
18	265366	A	T	18	265366	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0343896936426736	0.418
18	265367	T	A	18	265367	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00118774198571991	0.032
18	265367	T	C	18	265367	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999853812413192	0.94
18	265367	T	G	18	265367	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	8.62093584553986E-4	0.01
18	265368	T	A	18	265368	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.66023026668565E-4	0.138
18	265368	T	C	18	265368	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.83367289310152E-4	0.014
18	265368	T	G	18	265368	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.57313123511266E-4	0.0
18	265369	A	C	18	265369	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0123535303360888	0.186
18	265369	A	G	18	265369	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.20095897704722E-5	0.0
18	265369	A	T	18	265369	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00845902494933904	0.16
18	265370	A	C	18	265370	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.067975713214777	0.272
18	265370	A	G	18	265370	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.24256769165765E-5	0.01
18	265370	A	T	18	265370	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0561006469996713	0.294
18	265371	A	C	18	265371	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.132719967594224	0.334
18	265371	A	G	18	265371	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.02598863878242E-4	0.012
18	265371	A	T	18	265371	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0544297656522511	0.342
18	265372	A	C	18	265372	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0103335275094946	0.238
18	265372	A	G	18	265372	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.13434174118338E-4	0.024
18	265372	A	T	18	265372	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0110450661271084	0.288
18	265373	A	C	18	265373	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.739958718134449	0.528
18	265373	A	G	18	265373	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.001706065414753	0.098
18	265373	A	T	18	265373	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.24351654671609	0.542
18	265374	C	A	18	265374	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.23226398634195E-5	0.036
18	265374	C	G	18	265374	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.40543861067507E-5	0.002
18	265374	C	T	18	265374	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.9062910540005E-5	0.042
18	265375	A	C	18	265375	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.213384622934303	0.512
18	265375	A	G	18	265375	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00151382924797594	0.094
18	265375	A	T	18	265375	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999953499251753	0.944
18	265449	T	A	18	265449	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.40063699135737E-5	0.0
18	265449	T	C	18	265449	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.25744236322288E-5	0.014
18	265449	T	G	18	265449	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.13553750130627E-5	0.022
18	265450	G	A	18	265450	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.39945734068277E-5	0.002
18	265450	G	C	18	265450	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.98946793018657E-5	0.016
18	265450	G	T	18	265450	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.7965968951775E-5	0.032
18	265451	C	A	18	265451	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.92851336332963E-5	0.0
18	265451	C	G	18	265451	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	7.29838312389165E-5	0.0
18	265451	C	T	18	265451	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.88801389484043E-5	0.0
18	265452	C	A	18	265452	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.10504917782702	0.352
18	265452	C	G	18	265452	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0667160696496939	0.372
18	265452	C	T	18	265452	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.166172943396166	0.43
18	265453	T	A	18	265453	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.69471456298977	0.562
18	265453	T	C	18	265453	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.703668882964919	0.468
18	265453	T	G	18	265453	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.30699435654055	0.52
18	265454	T	A	18	265454	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999321884488803	0.928
18	265454	T	C	18	265454	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.360441368442278	0.298
18	265454	T	G	18	265454	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.998248987492273	0.928
18	265455	A	C	18	265455	y	y	splicing	THOC1(NM_005131:exon3:c.128+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.128+2T>G;ENST00000580038:exon3:c.128+2T>G;ENST00000581269:exon3:c.128+2T>G;ENST00000581116:exon3:c.128+2T>G)	.	.	0.999988247793601	0.93
18	265455	A	G	18	265455	y	y	splicing	THOC1(NM_005131:exon3:c.128+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.128+2T>C;ENST00000580038:exon3:c.128+2T>C;ENST00000581269:exon3:c.128+2T>C;ENST00000581116:exon3:c.128+2T>C)	.	.	0.98918007292081	0.668
18	265455	A	T	18	265455	y	y	splicing	THOC1(NM_005131:exon3:c.128+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.128+2T>A;ENST00000580038:exon3:c.128+2T>A;ENST00000581269:exon3:c.128+2T>A;ENST00000581116:exon3:c.128+2T>A)	.	.	0.999988247793601	0.93
18	265456	C	A	18	265456	y	y	splicing	THOC1(NM_005131:exon3:c.128+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.128+1G>T;ENST00000580038:exon3:c.128+1G>T;ENST00000581269:exon3:c.128+1G>T;ENST00000581116:exon3:c.128+1G>T)	.	.	0.999990361384395	0.938
18	265456	C	G	18	265456	y	y	splicing	THOC1(NM_005131:exon3:c.128+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.128+1G>C;ENST00000580038:exon3:c.128+1G>C;ENST00000581269:exon3:c.128+1G>C;ENST00000581116:exon3:c.128+1G>C)	.	.	0.999990361384395	0.938
18	265456	C	T	18	265456	y	y	splicing	THOC1(NM_005131:exon3:c.128+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.128+1G>A;ENST00000580038:exon3:c.128+1G>A;ENST00000581269:exon3:c.128+1G>A;ENST00000581116:exon3:c.128+1G>A)	.	.	0.999990361384395	0.938
18	265457	C	A	18	265457	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.G128T:p.S43I;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.G128T:p.S43I;ENSG00000079134:ENST00000581116:exon2:c.G128T:p.S43I;ENSG00000079134:ENST00000261600:exon2:c.G128T:p.S43I;ENSG00000079134:ENST00000580038:exon2:c.G128T:p.S43I;	0.99197212331938	0.842
18	265457	C	G	18	265457	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.G128C:p.S43T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.G128C:p.S43T;ENSG00000079134:ENST00000581116:exon2:c.G128C:p.S43T;ENSG00000079134:ENST00000261600:exon2:c.G128C:p.S43T;ENSG00000079134:ENST00000580038:exon2:c.G128C:p.S43T;	0.963594686301527	0.716
18	265457	C	T	18	265457	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.G128A:p.S43N;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.G128A:p.S43N;ENSG00000079134:ENST00000581116:exon2:c.G128A:p.S43N;ENSG00000079134:ENST00000261600:exon2:c.G128A:p.S43N;ENSG00000079134:ENST00000580038:exon2:c.G128A:p.S43N;	0.97999050887094	0.826
18	265458	T	A	18	265458	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.A127T:p.S43C;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.A127T:p.S43C;ENSG00000079134:ENST00000581116:exon2:c.A127T:p.S43C;ENSG00000079134:ENST00000261600:exon2:c.A127T:p.S43C;ENSG00000079134:ENST00000580038:exon2:c.A127T:p.S43C;	0.980927339994488	0.692
18	265458	T	C	18	265458	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.A127G:p.S43G;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.A127G:p.S43G;ENSG00000079134:ENST00000581116:exon2:c.A127G:p.S43G;ENSG00000079134:ENST00000261600:exon2:c.A127G:p.S43G;ENSG00000079134:ENST00000580038:exon2:c.A127G:p.S43G;	0.986851740533727	0.948
18	265458	T	G	18	265458	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.A127C:p.S43R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.A127C:p.S43R;ENSG00000079134:ENST00000581116:exon2:c.A127C:p.S43R;ENSG00000079134:ENST00000261600:exon2:c.A127C:p.S43R;ENSG00000079134:ENST00000580038:exon2:c.A127C:p.S43R;	0.981206240304034	0.824
18	265459	G	A	18	265459	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon2:c.C126T:p.G42G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.C126T:p.G42G;ENSG00000079134:ENST00000581116:exon2:c.C126T:p.G42G;ENSG00000079134:ENST00000261600:exon2:c.C126T:p.G42G;ENSG00000079134:ENST00000580038:exon2:c.C126T:p.G42G;	0.00177626338642993	0.154
18	265459	G	C	18	265459	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon2:c.C126G:p.G42G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.C126G:p.G42G;ENSG00000079134:ENST00000581116:exon2:c.C126G:p.G42G;ENSG00000079134:ENST00000261600:exon2:c.C126G:p.G42G;ENSG00000079134:ENST00000580038:exon2:c.C126G:p.G42G;	3.1693705110028E-4	0.01
18	265459	G	T	18	265459	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon2:c.C126A:p.G42G;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.C126A:p.G42G;ENSG00000079134:ENST00000581116:exon2:c.C126A:p.G42G;ENSG00000079134:ENST00000261600:exon2:c.C126A:p.G42G;ENSG00000079134:ENST00000580038:exon2:c.C126A:p.G42G;	5.56357276732035E-4	0.02
18	265529	T	A	18	265529	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.A56T:p.K19M;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.A56T:p.K19M;ENSG00000079134:ENST00000581116:exon2:c.A56T:p.K19M;ENSG00000079134:ENST00000261600:exon2:c.A56T:p.K19M;ENSG00000079134:ENST00000580038:exon2:c.A56T:p.K19M;	0.0023796454551405	0.034
18	265529	T	C	18	265529	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.A56G:p.K19R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.A56G:p.K19R;ENSG00000079134:ENST00000581116:exon2:c.A56G:p.K19R;ENSG00000079134:ENST00000261600:exon2:c.A56G:p.K19R;ENSG00000079134:ENST00000580038:exon2:c.A56G:p.K19R;	0.00829750872183305	0.034
18	265529	T	G	18	265529	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.A56C:p.K19T;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.A56C:p.K19T;ENSG00000079134:ENST00000581116:exon2:c.A56C:p.K19T;ENSG00000079134:ENST00000261600:exon2:c.A56C:p.K19T;ENSG00000079134:ENST00000580038:exon2:c.A56C:p.K19T;	0.00412955989694918	0.072
18	265530	T	A	18	265530	y	y	exonic	THOC1	stopgain SNV	THOC1:NM_005131:exon2:c.A55T:p.K19X;	exonic	ENSG00000079134	stopgain SNV	ENSG00000079134:ENST00000581269:exon2:c.A55T:p.K19X;ENSG00000079134:ENST00000581116:exon2:c.A55T:p.K19X;ENSG00000079134:ENST00000261600:exon2:c.A55T:p.K19X;ENSG00000079134:ENST00000580038:exon2:c.A55T:p.K19X;	0.692103904925989	0.612
18	265530	T	C	18	265530	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.A55G:p.K19E;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.A55G:p.K19E;ENSG00000079134:ENST00000581116:exon2:c.A55G:p.K19E;ENSG00000079134:ENST00000261600:exon2:c.A55G:p.K19E;ENSG00000079134:ENST00000580038:exon2:c.A55G:p.K19E;	0.00101759002216866	0.018
18	265530	T	G	18	265530	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon2:c.A55C:p.K19Q;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon2:c.A55C:p.K19Q;ENSG00000079134:ENST00000581116:exon2:c.A55C:p.K19Q;ENSG00000079134:ENST00000261600:exon2:c.A55C:p.K19Q;ENSG00000079134:ENST00000580038:exon2:c.A55C:p.K19Q;	0.0725684177137895	0.206
18	265531	C	A	18	265531	y	y	splicing	THOC1(NM_005131:exon3:c.55-1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.55-1G>T;ENST00000580038:exon3:c.55-1G>T;ENST00000581269:exon3:c.55-1G>T;ENST00000581116:exon3:c.55-1G>T)	.	.	0.999982737877662	0.938
18	265531	C	G	18	265531	y	y	splicing	THOC1(NM_005131:exon3:c.55-1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.55-1G>C;ENST00000580038:exon3:c.55-1G>C;ENST00000581269:exon3:c.55-1G>C;ENST00000581116:exon3:c.55-1G>C)	.	.	0.999982737877662	0.932
18	265531	C	T	18	265531	y	y	splicing	THOC1(NM_005131:exon3:c.55-1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.55-1G>A;ENST00000580038:exon3:c.55-1G>A;ENST00000581269:exon3:c.55-1G>A;ENST00000581116:exon3:c.55-1G>A)	.	.	0.999982737877662	0.938
18	265532	T	A	18	265532	y	y	splicing	THOC1(NM_005131:exon3:c.55-2A>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.55-2A>T;ENST00000580038:exon3:c.55-2A>T;ENST00000581269:exon3:c.55-2A>T;ENST00000581116:exon3:c.55-2A>T)	.	.	0.99994568797423	0.948
18	265532	T	C	18	265532	y	y	splicing	THOC1(NM_005131:exon3:c.55-2A>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.55-2A>G;ENST00000580038:exon3:c.55-2A>G;ENST00000581269:exon3:c.55-2A>G;ENST00000581116:exon3:c.55-2A>G)	.	.	0.999946188727699	0.946
18	265532	T	G	18	265532	y	y	splicing	THOC1(NM_005131:exon3:c.55-2A>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon3:c.55-2A>C;ENST00000580038:exon3:c.55-2A>C;ENST00000581269:exon3:c.55-2A>C;ENST00000581116:exon3:c.55-2A>C)	.	.	0.999946188727699	0.948
18	265533	A	C	18	265533	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.815418762560148	0.664
18	265533	A	G	18	265533	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.08626184018664E-4	0.004
18	265533	A	T	18	265533	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00277404050961803	0.234
18	265534	A	C	18	265534	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.2967415058167E-4	0.018
18	265534	A	G	18	265534	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	6.80720911070674E-5	0.048
18	265534	A	T	18	265534	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.6793519596355E-5	0.076
18	265535	A	C	18	265535	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.931669852627915	0.464
18	265535	A	G	18	265535	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0249534982811801	0.086
18	265535	A	T	18	265535	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.889259041170377	0.426
18	265536	A	C	18	265536	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0251866610568234	0.16
18	265536	A	G	18	265536	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.02662641920097E-5	0.0
18	265536	A	T	18	265536	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0114727553348109	0.132
18	265537	A	C	18	265537	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00120797615266063	0.188
18	265537	A	G	18	265537	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.54202755542213E-5	0.024
18	265537	A	T	18	265537	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00401585989531227	0.162
18	265538	A	C	18	265538	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0266635157027788	0.36
18	265538	A	G	18	265538	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.5446077515904E-4	0.018
18	265538	A	T	18	265538	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.072325836128038	0.308
18	265539	A	C	18	265539	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0123472501046091	0.212
18	265539	A	G	18	265539	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.83935011492094E-5	0.03
18	265539	A	T	18	265539	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.036202760991232	0.256
18	265540	A	C	18	265540	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0783159976963804	0.468
18	265540	A	G	18	265540	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.72888723886849E-4	0.0
18	265540	A	T	18	265540	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.0479785594223223	0.428
18	265541	A	C	18	265541	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999761661535256	0.968
18	265541	A	G	18	265541	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.00326046926083369	0.168
18	265541	A	T	18	265541	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.326388032629855	0.474
18	265542	T	A	18	265542	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.91401855295826E-5	0.012
18	265542	T	C	18	265542	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.992648519711634	0.962
18	265542	T	G	18	265542	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	4.56185936197544E-5	0.004
18	267958	C	A	18	267958	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.424277081993E-4	0.002
18	267958	C	G	18	267958	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	9.66319213704038E-5	0.002
18	267958	C	T	18	267958	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.18111881468629E-4	0.002
18	267959	A	C	18	267959	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.86474183492296E-5	0.002
18	267959	A	G	18	267959	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	5.93871693871876E-5	0.002
18	267959	A	T	18	267959	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	2.86474183492296E-5	0.008
18	267960	G	A	18	267960	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	3.28099153966409E-5	0.016
18	267960	G	C	18	267960	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.09292769718919E-4	0.014
18	267960	G	T	18	267960	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.41153283689664E-4	0.006
18	267961	C	A	18	267961	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999948588332938	0.99
18	267961	C	G	18	267961	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999930815821401	0.896
18	267961	C	T	18	267961	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.999974904365699	0.91
18	267962	T	A	18	267962	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.991871320253298	0.804
18	267962	T	C	18	267962	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.928589815441376	0.706
18	267962	T	G	18	267962	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.842478122478539	0.628
18	267963	C	A	18	267963	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.970945954737853	0.58
18	267963	C	G	18	267963	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	0.949703528720395	0.644
18	267963	C	T	18	267963	y	y	intronic	THOC1	.	.	intronic	ENSG00000079134	.	.	1.79854231595135E-4	0.0
18	267964	A	C	18	267964	y	y	splicing	THOC1(NM_005131:exon2:c.54+2T>G)	.	.	splicing	ENSG00000079134(ENST00000261600:exon2:c.54+2T>G;ENST00000580038:exon2:c.54+2T>G;ENST00000581269:exon2:c.54+2T>G;ENST00000581116:exon2:c.54+2T>G)	.	.	0.999971317418422	0.898
18	267964	A	G	18	267964	y	y	splicing	THOC1(NM_005131:exon2:c.54+2T>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon2:c.54+2T>C;ENST00000580038:exon2:c.54+2T>C;ENST00000581269:exon2:c.54+2T>C;ENST00000581116:exon2:c.54+2T>C)	.	.	0.999959804700048	0.922
18	267964	A	T	18	267964	y	y	splicing	THOC1(NM_005131:exon2:c.54+2T>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon2:c.54+2T>A;ENST00000580038:exon2:c.54+2T>A;ENST00000581269:exon2:c.54+2T>A;ENST00000581116:exon2:c.54+2T>A)	.	.	0.999963671976247	0.932
18	267965	C	A	18	267965	y	y	splicing	THOC1(NM_005131:exon2:c.54+1G>T)	.	.	splicing	ENSG00000079134(ENST00000261600:exon2:c.54+1G>T;ENST00000580038:exon2:c.54+1G>T;ENST00000581269:exon2:c.54+1G>T;ENST00000581116:exon2:c.54+1G>T)	.	.	0.999971412033808	0.864
18	267965	C	G	18	267965	y	y	splicing	THOC1(NM_005131:exon2:c.54+1G>C)	.	.	splicing	ENSG00000079134(ENST00000261600:exon2:c.54+1G>C;ENST00000580038:exon2:c.54+1G>C;ENST00000581269:exon2:c.54+1G>C;ENST00000581116:exon2:c.54+1G>C)	.	.	0.99996555635344	0.858
18	267965	C	T	18	267965	y	y	splicing	THOC1(NM_005131:exon2:c.54+1G>A)	.	.	splicing	ENSG00000079134(ENST00000261600:exon2:c.54+1G>A;ENST00000580038:exon2:c.54+1G>A;ENST00000581269:exon2:c.54+1G>A;ENST00000581116:exon2:c.54+1G>A)	.	.	0.999971412033808	0.872
18	267966	C	A	18	267966	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon1:c.G54T:p.T18T;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.G54T:p.T18T;ENSG00000079134:ENST00000581116:exon1:c.G54T:p.T18T;ENSG00000079134:ENST00000261600:exon1:c.G54T:p.T18T;ENSG00000079134:ENST00000580038:exon1:c.G54T:p.T18T;	0.999044229303829	0.924
18	267966	C	G	18	267966	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon1:c.G54C:p.T18T;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.G54C:p.T18T;ENSG00000079134:ENST00000581116:exon1:c.G54C:p.T18T;ENSG00000079134:ENST00000261600:exon1:c.G54C:p.T18T;ENSG00000079134:ENST00000580038:exon1:c.G54C:p.T18T;	0.999948609169573	0.888
18	267966	C	T	18	267966	y	y	exonic	THOC1	synonymous SNV	THOC1:NM_005131:exon1:c.G54A:p.T18T;	exonic	ENSG00000079134	synonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.G54A:p.T18T;ENSG00000079134:ENST00000581116:exon1:c.G54A:p.T18T;ENSG00000079134:ENST00000261600:exon1:c.G54A:p.T18T;ENSG00000079134:ENST00000580038:exon1:c.G54A:p.T18T;	0.998949865857802	0.95
18	267967	G	A	18	267967	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon1:c.C53T:p.T18M;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.C53T:p.T18M;ENSG00000079134:ENST00000581116:exon1:c.C53T:p.T18M;ENSG00000079134:ENST00000261600:exon1:c.C53T:p.T18M;ENSG00000079134:ENST00000580038:exon1:c.C53T:p.T18M;	0.0296750999639762	0.216
18	267967	G	C	18	267967	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon1:c.C53G:p.T18R;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.C53G:p.T18R;ENSG00000079134:ENST00000581116:exon1:c.C53G:p.T18R;ENSG00000079134:ENST00000261600:exon1:c.C53G:p.T18R;ENSG00000079134:ENST00000580038:exon1:c.C53G:p.T18R;	0.0589304463560202	0.232
18	267967	G	T	18	267967	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon1:c.C53A:p.T18K;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.C53A:p.T18K;ENSG00000079134:ENST00000581116:exon1:c.C53A:p.T18K;ENSG00000079134:ENST00000261600:exon1:c.C53A:p.T18K;ENSG00000079134:ENST00000580038:exon1:c.C53A:p.T18K;	0.0053554708779353	0.112
18	267968	T	A	18	267968	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon1:c.A52T:p.T18S;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.A52T:p.T18S;ENSG00000079134:ENST00000581116:exon1:c.A52T:p.T18S;ENSG00000079134:ENST00000261600:exon1:c.A52T:p.T18S;ENSG00000079134:ENST00000580038:exon1:c.A52T:p.T18S;	0.0313024797717106	0.28
18	267968	T	C	18	267968	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon1:c.A52G:p.T18A;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.A52G:p.T18A;ENSG00000079134:ENST00000581116:exon1:c.A52G:p.T18A;ENSG00000079134:ENST00000261600:exon1:c.A52G:p.T18A;ENSG00000079134:ENST00000580038:exon1:c.A52G:p.T18A;	0.00211013543937519	0.14
18	267968	T	G	18	267968	y	y	exonic	THOC1	nonsynonymous SNV	THOC1:NM_005131:exon1:c.A52C:p.T18P;	exonic	ENSG00000079134	nonsynonymous SNV	ENSG00000079134:ENST00000581269:exon1:c.A52C:p.T18P;ENSG00000079134:ENST00000581116:exon1:c.A52C:p.T18P;ENSG00000079134:ENST00000261600:exon1:c.A52C:p.T18P;ENSG00000079134:ENST00000580038:exon1:c.A52C:p.T18P;	3.3511736750616E-4	0.014
18	320063	T	A	18	320063	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon10:c.A2211T:p.V737V;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon10:c.A2211T:p.V737V;	1.93350788135157E-5	0.0
18	320063	T	C	18	320063	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon10:c.A2211G:p.V737V;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon10:c.A2211G:p.V737V;	4.57380006945468E-5	0.004
18	320063	T	G	18	320063	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon10:c.A2211C:p.V737V;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon10:c.A2211C:p.V737V;	2.35934306180528E-5	0.0
18	320064	A	C	18	320064	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon10:c.T2210G:p.V737G;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon10:c.T2210G:p.V737G;	1.49700000488229E-4	0.14
18	320064	A	G	18	320064	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon10:c.T2210C:p.V737A;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon10:c.T2210C:p.V737A;	1.26717044577056E-5	0.002
18	320064	A	T	18	320064	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon10:c.T2210A:p.V737E;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon10:c.T2210A:p.V737E;	2.34663409969003E-5	0.002
18	320065	C	A	18	320065	y	y	splicing	COLEC12(NM_130386:exon11:c.2210-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon11:c.2210-1G>T)	.	.	0.999974785031454	0.868
18	320065	C	G	18	320065	y	y	splicing	COLEC12(NM_130386:exon11:c.2210-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon11:c.2210-1G>C)	.	.	0.999974785031454	0.874
18	320065	C	T	18	320065	y	y	splicing	COLEC12(NM_130386:exon11:c.2210-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon11:c.2210-1G>A)	.	.	0.999977162774916	0.878
18	320066	T	A	18	320066	y	y	splicing	COLEC12(NM_130386:exon11:c.2210-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon11:c.2210-2A>T)	.	.	0.999972155025474	0.872
18	320066	T	C	18	320066	y	y	splicing	COLEC12(NM_130386:exon11:c.2210-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon11:c.2210-2A>G)	.	.	0.999969255906173	0.864
18	320066	T	G	18	320066	y	y	splicing	COLEC12(NM_130386:exon11:c.2210-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon11:c.2210-2A>C)	.	.	0.999969255906173	0.864
18	320067	A	C	18	320067	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.99599363903807	0.724
18	320067	A	G	18	320067	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.24387681506203E-4	0.016
18	320067	A	T	18	320067	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00248068428512514	0.18
18	320068	A	C	18	320068	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.16383737459525E-4	0.006
18	320068	A	G	18	320068	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.83549462702151E-5	0.0
18	320068	A	T	18	320068	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.18142699512615E-5	0.002
18	320069	A	C	18	320069	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.259031794521347	0.454
18	320069	A	G	18	320069	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.026274298812764	0.206
18	320069	A	T	18	320069	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0553203214129293	0.434
18	320070	A	C	18	320070	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00740151448849082	0.14
18	320070	A	G	18	320070	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.89305801683948E-4	0.006
18	320070	A	T	18	320070	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0114282129338297	0.142
18	320071	G	A	18	320071	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.36830343550841E-5	0.03
18	320071	G	C	18	320071	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.80622651684521E-4	0.058
18	320071	G	T	18	320071	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.43056249968848E-4	0.096
18	320072	A	C	18	320072	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.28070752547515E-4	0.116
18	320072	A	G	18	320072	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.70452324317295E-5	0.034
18	320072	A	T	18	320072	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00202890734901119	0.104
18	320073	G	A	18	320073	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.38597271767141E-4	0.014
18	320073	G	C	18	320073	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.70506678130398E-4	0.072
18	320073	G	T	18	320073	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.68116139369015E-4	0.046
18	320074	A	C	18	320074	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0199381045796763	0.306
18	320074	A	G	18	320074	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00173636085067626	0.07
18	320074	A	T	18	320074	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0230858186247039	0.332
18	320075	G	A	18	320075	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.65680188883349E-5	0.0
18	320075	G	C	18	320075	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.4291462121264E-5	0.016
18	320075	G	T	18	320075	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.33141370477845E-4	0.148
18	320076	A	C	18	320076	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00206678735058352	0.11
18	320076	A	G	18	320076	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.77294312119605E-4	0.002
18	320076	A	T	18	320076	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00440281364065658	0.1
18	321654	C	A	18	321654	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.58505127053764E-4	0.01
18	321654	C	G	18	321654	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.33094872256703E-4	0.004
18	321654	C	T	18	321654	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.23008612738095E-4	0.01
18	321655	T	A	18	321655	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.10411443916217E-4	0.02
18	321655	T	C	18	321655	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.39489335065929E-4	0.016
18	321655	T	G	18	321655	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.97878667517764E-5	0.012
18	321656	G	A	18	321656	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.36491241849822E-5	0.002
18	321656	G	C	18	321656	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.49933623307863E-4	0.024
18	321656	G	T	18	321656	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.00390153798949E-4	0.004
18	321657	C	A	18	321657	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999260038649265	0.906
18	321657	C	G	18	321657	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.994437099778189	0.8
18	321657	C	T	18	321657	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999438501650333	0.962
18	321658	T	A	18	321658	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.973312244304562	0.67
18	321658	T	C	18	321658	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.851189328358549	0.626
18	321658	T	G	18	321658	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.755038944456777	0.568
18	321659	C	A	18	321659	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0865106693682813	0.248
18	321659	C	G	18	321659	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0142922875471393	0.168
18	321659	C	T	18	321659	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.5637276063824E-5	0.0
18	321660	A	C	18	321660	y	y	splicing	COLEC12(NM_130386:exon10:c.2209+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2209+2T>G)	.	.	0.999988247793601	0.926
18	321660	A	G	18	321660	y	y	splicing	COLEC12(NM_130386:exon10:c.2209+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2209+2T>C)	.	.	0.99991520749976	0.866
18	321660	A	T	18	321660	y	y	splicing	COLEC12(NM_130386:exon10:c.2209+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2209+2T>A)	.	.	0.999988247793601	0.928
18	321661	C	A	18	321661	y	y	splicing	COLEC12(NM_130386:exon10:c.2209+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2209+1G>T)	.	.	0.999986675681007	0.934
18	321661	C	G	18	321661	y	y	splicing	COLEC12(NM_130386:exon10:c.2209+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2209+1G>C)	.	.	0.999986675681007	0.934
18	321661	C	T	18	321661	y	y	splicing	COLEC12(NM_130386:exon10:c.2209+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2209+1G>A)	.	.	0.999986675681007	0.934
18	321662	C	A	18	321662	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.G2209T:p.V737L;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.G2209T:p.V737L;	0.999744327053189	0.984
18	321662	C	G	18	321662	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.G2209C:p.V737L;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.G2209C:p.V737L;	0.999944228489842	0.942
18	321662	C	T	18	321662	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.G2209A:p.V737I;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.G2209A:p.V737I;	0.997515888157856	0.932
18	321663	T	A	18	321663	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon9:c.A2208T:p.T736T;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2208T:p.T736T;	0.975795380235934	0.808
18	321663	T	C	18	321663	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon9:c.A2208G:p.T736T;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2208G:p.T736T;	0.959324274074493	0.78
18	321663	T	G	18	321663	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon9:c.A2208C:p.T736T;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2208C:p.T736T;	0.90436241979013	0.74
18	321664	G	A	18	321664	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.C2207T:p.T736I;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.C2207T:p.T736I;	0.540179012808585	0.484
18	321664	G	C	18	321664	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.C2207G:p.T736R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.C2207G:p.T736R;	0.00785803351259919	0.192
18	321664	G	T	18	321664	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.C2207A:p.T736K;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.C2207A:p.T736K;	0.00515777550861605	0.156
18	321806	T	A	18	321806	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.A2065T:p.N689Y;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2065T:p.N689Y;	0.66527820263751	0.616
18	321806	T	C	18	321806	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.A2065G:p.N689D;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2065G:p.N689D;	0.81514445790255	0.578
18	321806	T	G	18	321806	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.A2065C:p.N689H;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2065C:p.N689H;	0.65938785565633	0.688
18	321807	T	A	18	321807	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.A2064T:p.K688N;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2064T:p.K688N;	0.18892999103534	0.378
18	321807	T	C	18	321807	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon9:c.A2064G:p.K688K;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2064G:p.K688K;	6.05314357069665E-4	0.048
18	321807	T	G	18	321807	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon9:c.A2064C:p.K688N;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon9:c.A2064C:p.K688N;	0.018008738785126	0.234
18	321808	C	A	18	321808	y	y	splicing	COLEC12(NM_130386:exon10:c.2064-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2064-1G>T)	.	.	0.999948737127494	0.908
18	321808	C	G	18	321808	y	y	splicing	COLEC12(NM_130386:exon10:c.2064-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2064-1G>C)	.	.	0.999948737127494	0.908
18	321808	C	T	18	321808	y	y	splicing	COLEC12(NM_130386:exon10:c.2064-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2064-1G>A)	.	.	0.999948737127494	0.904
18	321809	T	A	18	321809	y	y	splicing	COLEC12(NM_130386:exon10:c.2064-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2064-2A>T)	.	.	0.999967267480926	0.874
18	321809	T	C	18	321809	y	y	splicing	COLEC12(NM_130386:exon10:c.2064-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2064-2A>G)	.	.	0.999980458178334	0.898
18	321809	T	G	18	321809	y	y	splicing	COLEC12(NM_130386:exon10:c.2064-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon10:c.2064-2A>C)	.	.	0.999980458178334	0.896
18	321810	T	A	18	321810	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.15965698398699E-4	0.062
18	321810	T	C	18	321810	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.127937126302652	0.31
18	321810	T	G	18	321810	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.695453559263E-4	0.142
18	321811	T	A	18	321811	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.23460281707664E-4	0.052
18	321811	T	C	18	321811	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998455799240431	0.992
18	321811	T	G	18	321811	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.72173861411074E-4	0.046
18	321812	T	A	18	321812	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.07293582030428E-5	0.032
18	321812	T	C	18	321812	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.96695411894417E-4	0.014
18	321812	T	G	18	321812	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.60283418007628E-5	0.0
18	321813	A	C	18	321813	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.525327154106838	0.576
18	321813	A	G	18	321813	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.03349939525107E-4	0.034
18	321813	A	T	18	321813	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.324546760626023	0.498
18	321814	G	A	18	321814	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.77546658757613E-5	0.032
18	321814	G	C	18	321814	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00183092431815912	0.126
18	321814	G	T	18	321814	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00449632105119097	0.142
18	321815	C	A	18	321815	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.73017840065247E-5	0.018
18	321815	C	G	18	321815	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.73017840065247E-5	0.016
18	321815	C	T	18	321815	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.14655216262514E-5	0.056
18	321816	A	C	18	321816	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.568137150953267	0.576
18	321816	A	G	18	321816	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.39035644082815E-4	0.074
18	321816	A	T	18	321816	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999940342733856	0.958
18	321817	A	C	18	321817	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.224021879771009	0.57
18	321817	A	G	18	321817	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00102134459955482	0.098
18	321817	A	T	18	321817	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.700469816974299	0.702
18	321818	A	C	18	321818	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.255073402622254	0.51
18	321818	A	G	18	321818	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00199722028098138	0.178
18	321818	A	T	18	321818	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.984252832385897	0.69
18	321819	A	C	18	321819	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.321674531939343	0.568
18	321819	A	G	18	321819	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.92385241516655E-4	0.082
18	321819	A	T	18	321819	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.423531514398577	0.568
18	331660	G	A	18	331660	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.47610205509752E-4	0.024
18	331660	G	C	18	331660	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.84034671606015E-5	0.002
18	331660	G	T	18	331660	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.84034671606015E-5	0.012
18	331661	T	A	18	331661	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.49218586110481E-5	0.0
18	331661	T	C	18	331661	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.49218586110481E-5	0.0
18	331661	T	G	18	331661	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.49218586110481E-5	0.0
18	331662	A	C	18	331662	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.202081717286666	0.506
18	331662	A	G	18	331662	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.449922293806729	0.71
18	331662	A	T	18	331662	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.270172764666707	0.614
18	331663	C	A	18	331663	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.996220035076271	0.802
18	331663	C	G	18	331663	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999071946728973	0.84
18	331663	C	T	18	331663	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.997159392173557	0.824
18	331664	T	A	18	331664	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.916494294411419	0.584
18	331664	T	C	18	331664	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.990883865852189	0.724
18	331664	T	G	18	331664	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.849613821102329	0.538
18	331665	T	A	18	331665	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.829961057378894	0.532
18	331665	T	C	18	331665	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00254443909539775	0.046
18	331665	T	G	18	331665	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.98938943191706	0.724
18	331666	A	C	18	331666	y	y	splicing	COLEC12(NM_130386:exon9:c.2063+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.2063+2T>G)	.	.	0.999988247793601	0.93
18	331666	A	G	18	331666	y	y	splicing	COLEC12(NM_130386:exon9:c.2063+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.2063+2T>C)	.	.	0.994669226766359	0.7
18	331666	A	T	18	331666	y	y	splicing	COLEC12(NM_130386:exon9:c.2063+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.2063+2T>A)	.	.	0.999988247793601	0.93
18	331667	C	A	18	331667	y	y	splicing	COLEC12(NM_130386:exon9:c.2063+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.2063+1G>T)	.	.	0.999989072007339	0.934
18	331667	C	G	18	331667	y	y	splicing	COLEC12(NM_130386:exon9:c.2063+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.2063+1G>C)	.	.	0.999989072007339	0.934
18	331667	C	T	18	331667	y	y	splicing	COLEC12(NM_130386:exon9:c.2063+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.2063+1G>A)	.	.	0.999989072007339	0.934
18	331668	T	A	18	331668	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.A2063T:p.K688I;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.A2063T:p.K688I;	1.99276916439334E-4	0.106
18	331668	T	C	18	331668	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.A2063G:p.K688R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.A2063G:p.K688R;	6.23627300263073E-5	0.338
18	331668	T	G	18	331668	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.A2063C:p.K688T;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.A2063C:p.K688T;	8.86895541170336E-5	0.002
18	331669	T	A	18	331669	y	y	exonic	COLEC12	stopgain SNV	COLEC12:NM_130386:exon8:c.A2062T:p.K688X;	exonic	ENSG00000158270	stopgain SNV	ENSG00000158270:ENST00000400256:exon8:c.A2062T:p.K688X;	0.995381974975918	0.874
18	331669	T	C	18	331669	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.A2062G:p.K688E;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.A2062G:p.K688E;	0.992592160916157	0.936
18	331669	T	G	18	331669	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.A2062C:p.K688Q;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.A2062C:p.K688Q;	0.995870634430755	0.94
18	331670	G	A	18	331670	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon8:c.C2061T:p.Y687Y;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.C2061T:p.Y687Y;	0.0117618066621473	0.33
18	331670	G	C	18	331670	y	y	exonic	COLEC12	stopgain SNV	COLEC12:NM_130386:exon8:c.C2061G:p.Y687X;	exonic	ENSG00000158270	stopgain SNV	ENSG00000158270:ENST00000400256:exon8:c.C2061G:p.Y687X;	1.01458812302608E-4	0.262
18	331670	G	T	18	331670	y	y	exonic	COLEC12	stopgain SNV	COLEC12:NM_130386:exon8:c.C2061A:p.Y687X;	exonic	ENSG00000158270	stopgain SNV	ENSG00000158270:ENST00000400256:exon8:c.C2061A:p.Y687X;	1.21047096363027E-4	0.318
18	331776	T	A	18	331776	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.A1955T:p.Q652L;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.A1955T:p.Q652L;	0.0300168934398453	0.16
18	331776	T	C	18	331776	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.A1955G:p.Q652R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.A1955G:p.Q652R;	0.0244946017807999	0.124
18	331776	T	G	18	331776	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.A1955C:p.Q652P;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.A1955C:p.Q652P;	0.0822710452956882	0.19
18	331777	G	A	18	331777	y	y	exonic	COLEC12	stopgain SNV	COLEC12:NM_130386:exon8:c.C1954T:p.Q652X;	exonic	ENSG00000158270	stopgain SNV	ENSG00000158270:ENST00000400256:exon8:c.C1954T:p.Q652X;	0.995063132977744	0.948
18	331777	G	C	18	331777	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.C1954G:p.Q652E;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.C1954G:p.Q652E;	0.933603550921573	0.626
18	331777	G	T	18	331777	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon8:c.C1954A:p.Q652K;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon8:c.C1954A:p.Q652K;	0.669398795100279	0.606
18	331778	C	A	18	331778	y	y	splicing	COLEC12(NM_130386:exon9:c.1954-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.1954-1G>T)	.	.	0.999986675681007	0.934
18	331778	C	G	18	331778	y	y	splicing	COLEC12(NM_130386:exon9:c.1954-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.1954-1G>C)	.	.	0.999986675681007	0.934
18	331778	C	T	18	331778	y	y	splicing	COLEC12(NM_130386:exon9:c.1954-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.1954-1G>A)	.	.	0.999986675681007	0.934
18	331779	T	A	18	331779	y	y	splicing	COLEC12(NM_130386:exon9:c.1954-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.1954-2A>T)	.	.	0.999988247793601	0.926
18	331779	T	C	18	331779	y	y	splicing	COLEC12(NM_130386:exon9:c.1954-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.1954-2A>G)	.	.	0.999988247793601	0.926
18	331779	T	G	18	331779	y	y	splicing	COLEC12(NM_130386:exon9:c.1954-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon9:c.1954-2A>C)	.	.	0.999988247793601	0.926
18	331780	G	A	18	331780	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.063373001423636	0.184
18	331780	G	C	18	331780	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999318422037687	0.966
18	331780	G	T	18	331780	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.777231814555761	0.472
18	331781	A	C	18	331781	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.60688454534139E-5	0.0
18	331781	A	G	18	331781	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.69191947839649E-5	0.002
18	331781	A	T	18	331781	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.68755422262799E-5	0.002
18	331782	A	C	18	331782	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.778107452381738	0.582
18	331782	A	G	18	331782	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0140112526883375	0.086
18	331782	A	T	18	331782	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.466412977600051	0.552
18	331783	A	C	18	331783	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.705414292278032	0.548
18	331783	A	G	18	331783	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	6.89385711945212E-4	0.074
18	331783	A	T	18	331783	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.832307221842851	0.526
18	331784	A	C	18	331784	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00502916052274228	0.108
18	331784	A	G	18	331784	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.36621058023979E-4	0.002
18	331784	A	T	18	331784	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0592292585172311	0.152
18	331785	A	C	18	331785	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.011032136841219	0.172
18	331785	A	G	18	331785	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.50472949674294E-5	0.004
18	331785	A	T	18	331785	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0341700787252611	0.136
18	331786	C	A	18	331786	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.80524452692007E-5	0.0
18	331786	C	G	18	331786	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.49628062548378E-5	0.022
18	331786	C	T	18	331786	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.03282784477369E-5	0.0
18	331787	A	C	18	331787	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.476379007795042	0.516
18	331787	A	G	18	331787	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00163841409461287	0.03
18	331787	A	T	18	331787	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999868474097351	0.946
18	331788	A	C	18	331788	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00333003188305851	0.214
18	331788	A	G	18	331788	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.60264696713707E-4	0.036
18	331788	A	T	18	331788	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0370644060288949	0.25
18	331789	A	C	18	331789	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0026446167426088	0.072
18	331789	A	G	18	331789	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.20313765792908E-5	0.0
18	331789	A	T	18	331789	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00249318219267826	0.064
18	332999	A	C	18	332999	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.45900571352954E-5	0.0
18	332999	A	G	18	332999	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.06120634547253E-4	0.0
18	332999	A	T	18	332999	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.45900571352954E-5	0.0
18	333000	G	A	18	333000	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.38672283886459E-5	0.0
18	333000	G	C	18	333000	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.82152694110954E-6	0.0
18	333000	G	T	18	333000	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.06341561599038E-6	0.0
18	333001	G	A	18	333001	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	6.62479617720043E-6	0.0
18	333001	G	C	18	333001	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.67516198283614E-5	0.044
18	333001	G	T	18	333001	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.10421594716554E-5	0.006
18	333002	C	A	18	333002	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.990343220195409	0.568
18	333002	C	G	18	333002	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.970639598887548	0.456
18	333002	C	T	18	333002	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.812751868833594	0.428
18	333003	A	C	18	333003	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.04737954009672E-5	0.0
18	333003	A	G	18	333003	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.96642874008321E-5	0.0
18	333003	A	T	18	333003	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	6.23378325320964E-5	0.018
18	333004	T	A	18	333004	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999086789607137	0.818
18	333004	T	C	18	333004	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.867643287013119	0.652
18	333004	T	G	18	333004	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.997060445288988	0.818
18	333005	A	C	18	333005	y	y	splicing	COLEC12(NM_130386:exon8:c.1953+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1953+2T>G)	.	.	0.999978952611685	0.928
18	333005	A	G	18	333005	y	y	splicing	COLEC12(NM_130386:exon8:c.1953+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1953+2T>C)	.	.	0.995550480548773	0.668
18	333005	A	T	18	333005	y	y	splicing	COLEC12(NM_130386:exon8:c.1953+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1953+2T>A)	.	.	0.999978952611685	0.93
18	333006	C	A	18	333006	y	y	splicing	COLEC12(NM_130386:exon8:c.1953+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1953+1G>T)	.	.	0.999985532734767	0.938
18	333006	C	G	18	333006	y	y	splicing	COLEC12(NM_130386:exon8:c.1953+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1953+1G>C)	.	.	0.999985532734767	0.938
18	333006	C	T	18	333006	y	y	splicing	COLEC12(NM_130386:exon8:c.1953+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1953+1G>A)	.	.	0.999985532734767	0.938
18	333007	C	A	18	333007	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.G1953T:p.Q651H;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.G1953T:p.Q651H;	0.999970957633552	0.988
18	333007	C	G	18	333007	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.G1953C:p.Q651H;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.G1953C:p.Q651H;	0.999994087848409	0.994
18	333007	C	T	18	333007	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon7:c.G1953A:p.Q651Q;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.G1953A:p.Q651Q;	0.999771230886047	0.952
18	333008	T	A	18	333008	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.A1952T:p.Q651L;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.A1952T:p.Q651L;	0.999783670201145	1.0
18	333008	T	C	18	333008	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.A1952G:p.Q651R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.A1952G:p.Q651R;	0.999793152304708	0.984
18	333008	T	G	18	333008	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.A1952C:p.Q651P;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.A1952C:p.Q651P;	0.999804603492644	0.98
18	333009	G	A	18	333009	y	y	exonic	COLEC12	stopgain SNV	COLEC12:NM_130386:exon7:c.C1951T:p.Q651X;	exonic	ENSG00000158270	stopgain SNV	ENSG00000158270:ENST00000400256:exon7:c.C1951T:p.Q651X;	0.953090689243141	0.786
18	333009	G	C	18	333009	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.C1951G:p.Q651E;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.C1951G:p.Q651E;	0.012863851115895	0.236
18	333009	G	T	18	333009	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.C1951A:p.Q651K;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.C1951A:p.Q651K;	0.0420280368456074	0.434
18	333142	G	A	18	333142	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon7:c.C1818T:p.G606G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.C1818T:p.G606G;	3.86143905314233E-5	0.012
18	333142	G	C	18	333142	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon7:c.C1818G:p.G606G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.C1818G:p.G606G;	2.16931078868493E-5	0.06
18	333142	G	T	18	333142	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon7:c.C1818A:p.G606G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.C1818A:p.G606G;	2.53638700173246E-5	0.016
18	333143	C	A	18	333143	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.G1817T:p.G606V;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.G1817T:p.G606V;	0.999905436020926	0.98
18	333143	C	G	18	333143	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.G1817C:p.G606A;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.G1817C:p.G606A;	0.999897840691363	0.966
18	333143	C	T	18	333143	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon7:c.G1817A:p.G606D;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon7:c.G1817A:p.G606D;	0.999412907599435	0.908
18	333144	C	A	18	333144	y	y	splicing	COLEC12(NM_130386:exon8:c.1817-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1817-1G>T)	.	.	0.99995586615188	0.94
18	333144	C	G	18	333144	y	y	splicing	COLEC12(NM_130386:exon8:c.1817-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1817-1G>C)	.	.	0.999971209564868	0.938
18	333144	C	T	18	333144	y	y	splicing	COLEC12(NM_130386:exon8:c.1817-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1817-1G>A)	.	.	0.99995586615188	0.938
18	333145	T	A	18	333145	y	y	splicing	COLEC12(NM_130386:exon8:c.1817-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1817-2A>T)	.	.	0.999964896440643	0.938
18	333145	T	C	18	333145	y	y	splicing	COLEC12(NM_130386:exon8:c.1817-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1817-2A>G)	.	.	0.999963671976247	0.92
18	333145	T	G	18	333145	y	y	splicing	COLEC12(NM_130386:exon8:c.1817-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon8:c.1817-2A>C)	.	.	0.999963671976247	0.92
18	333146	A	C	18	333146	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.996347971415289	0.7
18	333146	A	G	18	333146	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.41568133979994E-5	0.04
18	333146	A	T	18	333146	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.222746099179977	0.262
18	333147	G	A	18	333147	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.21072363306462E-5	0.02
18	333147	G	C	18	333147	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.9052434972551E-5	0.028
18	333147	G	T	18	333147	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.27098597383087E-5	0.032
18	333148	G	A	18	333148	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.24059143123113E-5	0.034
18	333148	G	C	18	333148	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.34548526190491E-4	0.13
18	333148	G	T	18	333148	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.97589157325308E-4	0.13
18	333149	A	C	18	333149	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0126409415164884	0.376
18	333149	A	G	18	333149	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.39053132248212E-5	0.016
18	333149	A	T	18	333149	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00206655659641679	0.366
18	333150	A	C	18	333150	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999576887491629	0.966
18	333150	A	G	18	333150	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.37447186734102E-5	0.022
18	333150	A	T	18	333150	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0109830373242928	0.34
18	333151	T	A	18	333151	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.30902737528423E-5	0.004
18	333151	T	C	18	333151	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.18486454798799E-5	0.006
18	333151	T	G	18	333151	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.89417364585237E-5	0.012
18	333152	G	A	18	333152	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.29048442879939E-5	0.004
18	333152	G	C	18	333152	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.24439915936476E-4	0.08
18	333152	G	T	18	333152	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.12328838985702E-4	0.054
18	333153	C	A	18	333153	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.72223796471625E-5	0.002
18	333153	C	G	18	333153	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.78758014280297E-5	0.0
18	333153	C	T	18	333153	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.17558997718683E-4	0.028
18	333154	A	C	18	333154	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.162596845956164	0.358
18	333154	A	G	18	333154	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.57282642438032E-4	0.044
18	333154	A	T	18	333154	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998994717415174	0.926
18	333155	A	C	18	333155	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0139180397827875	0.318
18	333155	A	G	18	333155	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.94879445929865E-4	0.098
18	333155	A	T	18	333155	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0282373691457117	0.278
18	334734	G	A	18	334734	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	6.04821762665085E-5	0.0
18	334734	G	C	18	334734	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.59827990318004E-5	0.0
18	334734	G	T	18	334734	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.59827990318004E-5	0.0
18	334735	G	A	18	334735	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.38183787611534E-5	0.0
18	334735	G	C	18	334735	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.20740353029488E-5	0.0
18	334735	G	T	18	334735	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.20740353029488E-5	0.0
18	334736	A	C	18	334736	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00201073725830953	0.16
18	334736	A	G	18	334736	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0196933014032687	0.22
18	334736	A	T	18	334736	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0078627534694276	0.206
18	334737	C	A	18	334737	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.990705188985271	0.738
18	334737	C	G	18	334737	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.996651097923483	0.73
18	334737	C	T	18	334737	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.993945243395543	0.784
18	334738	T	A	18	334738	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.568579976556052	0.53
18	334738	T	C	18	334738	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.463720364181914	0.546
18	334738	T	G	18	334738	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.617997908818914	0.45
18	334739	T	A	18	334739	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.300319990810469	0.554
18	334739	T	C	18	334739	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.56581166886223E-4	0.076
18	334739	T	G	18	334739	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.870741114958757	0.582
18	334740	A	C	18	334740	y	y	splicing	COLEC12(NM_130386:exon7:c.1816+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1816+2T>G)	.	.	0.999944025356209	0.854
18	334740	A	G	18	334740	y	y	splicing	COLEC12(NM_130386:exon7:c.1816+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1816+2T>C)	.	.	0.933266193801369	0.518
18	334740	A	T	18	334740	y	y	splicing	COLEC12(NM_130386:exon7:c.1816+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1816+2T>A)	.	.	0.999944025356209	0.86
18	334741	C	A	18	334741	y	y	splicing	COLEC12(NM_130386:exon7:c.1816+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1816+1G>T)	.	.	0.999938990645747	0.948
18	334741	C	G	18	334741	y	y	splicing	COLEC12(NM_130386:exon7:c.1816+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1816+1G>C)	.	.	0.999960200702261	0.946
18	334741	C	T	18	334741	y	y	splicing	COLEC12(NM_130386:exon7:c.1816+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1816+1G>A)	.	.	0.999938990645747	0.94
18	334742	C	A	18	334742	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.G1816T:p.G606C;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.G1816T:p.G606C;	0.959212121674836	0.872
18	334742	C	G	18	334742	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.G1816C:p.G606R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.G1816C:p.G606R;	0.962823242353558	0.826
18	334742	C	T	18	334742	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.G1816A:p.G606S;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.G1816A:p.G606S;	0.925494670890956	0.758
18	334743	A	C	18	334743	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.T1815G:p.N605K;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.T1815G:p.N605K;	7.34536329571718E-5	0.0
18	334743	A	G	18	334743	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon6:c.T1815C:p.N605N;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.T1815C:p.N605N;	1.83421527981416E-5	0.006
18	334743	A	T	18	334743	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.T1815A:p.N605K;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.T1815A:p.N605K;	3.52181094566434E-5	0.064
18	334744	T	A	18	334744	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.A1814T:p.N605I;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.A1814T:p.N605I;	0.0208339386374395	0.198
18	334744	T	C	18	334744	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.A1814G:p.N605S;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.A1814G:p.N605S;	9.5048549050077E-5	0.048
18	334744	T	G	18	334744	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.A1814C:p.N605T;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.A1814C:p.N605T;	2.56131373901029E-4	0.052
18	335229	A	C	18	335229	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon6:c.T1329G:p.G443G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.T1329G:p.G443G;	5.65766034317806E-4	0.026
18	335229	A	G	18	335229	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon6:c.T1329C:p.G443G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.T1329C:p.G443G;	0.00192321686488422	0.076
18	335229	A	T	18	335229	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon6:c.T1329A:p.G443G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.T1329A:p.G443G;	5.7045953627601E-4	0.028
18	335230	C	A	18	335230	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.G1328T:p.G443V;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.G1328T:p.G443V;	0.994871937520045	0.864
18	335230	C	G	18	335230	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.G1328C:p.G443A;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.G1328C:p.G443A;	0.995535770381545	0.826
18	335230	C	T	18	335230	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon6:c.G1328A:p.G443D;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon6:c.G1328A:p.G443D;	0.997452685743451	0.734
18	335231	C	A	18	335231	y	y	splicing	COLEC12(NM_130386:exon7:c.1328-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1328-1G>T)	.	.	0.99993314117114	0.944
18	335231	C	G	18	335231	y	y	splicing	COLEC12(NM_130386:exon7:c.1328-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1328-1G>C)	.	.	0.99993314117114	0.948
18	335231	C	T	18	335231	y	y	splicing	COLEC12(NM_130386:exon7:c.1328-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1328-1G>A)	.	.	0.99993314117114	0.944
18	335232	T	A	18	335232	y	y	splicing	COLEC12(NM_130386:exon7:c.1328-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1328-2A>T)	.	.	0.999946188727699	0.942
18	335232	T	C	18	335232	y	y	splicing	COLEC12(NM_130386:exon7:c.1328-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1328-2A>G)	.	.	0.999946188727699	0.934
18	335232	T	G	18	335232	y	y	splicing	COLEC12(NM_130386:exon7:c.1328-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon7:c.1328-2A>C)	.	.	0.999946188727699	0.926
18	335233	A	C	18	335233	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999359015203708	0.64
18	335233	A	G	18	335233	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.80570459649974E-5	0.07
18	335233	A	T	18	335233	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.012121324843688	0.214
18	335234	A	C	18	335234	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.98177172132563E-4	0.046
18	335234	A	G	18	335234	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.21361724826322E-4	0.014
18	335234	A	T	18	335234	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.3484746447185E-4	0.036
18	335235	A	C	18	335235	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.448663256428773	0.374
18	335235	A	G	18	335235	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00377002545850885	0.074
18	335235	A	T	18	335235	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.472753870716082	0.382
18	335236	G	A	18	335236	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.17709582255157E-5	0.056
18	335236	G	C	18	335236	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.98162515587413E-4	0.182
18	335236	G	T	18	335236	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.45375074281856E-4	0.202
18	335237	C	A	18	335237	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.90998303420855E-5	0.002
18	335237	C	G	18	335237	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	6.17705836522659E-5	0.006
18	335237	C	T	18	335237	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.14383267358331E-4	0.0
18	335238	A	C	18	335238	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998258521690028	0.95
18	335238	A	G	18	335238	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.4163115698616E-5	0.006
18	335238	A	T	18	335238	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998594630326786	0.958
18	335239	T	A	18	335239	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.95440602519991E-5	0.002
18	335239	T	C	18	335239	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.80608576262725E-5	0.008
18	335239	T	G	18	335239	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.23443544323033E-5	0.036
18	335240	A	C	18	335240	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.49621529627253E-4	0.12
18	335240	A	G	18	335240	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	6.70774026548512E-5	0.002
18	335240	A	T	18	335240	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.44805762241077E-4	0.092
18	335241	A	C	18	335241	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.10028072131949	0.32
18	335241	A	G	18	335241	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00358193473346116	0.118
18	335241	A	T	18	335241	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0656514091163934	0.352
18	335242	A	C	18	335242	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.67456750625992E-4	0.164
18	335242	A	G	18	335242	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.78415134856617E-5	0.0
18	335242	A	T	18	335242	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.93492487555238E-4	0.146
18	346287	T	A	18	346287	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.41659288187735E-5	0.004
18	346287	T	C	18	346287	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.41659288187735E-5	0.004
18	346287	T	G	18	346287	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.41659288187735E-5	0.004
18	346288	G	A	18	346288	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.22273429151789E-5	0.014
18	346288	G	C	18	346288	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.49310066855601E-5	0.044
18	346288	G	T	18	346288	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.64463362497593E-5	0.102
18	346289	A	C	18	346289	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.38630998254389E-4	0.134
18	346289	A	G	18	346289	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00138591518510859	0.172
18	346289	A	T	18	346289	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.0690383136411E-4	0.196
18	346290	C	A	18	346290	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.387784887928149	0.404
18	346290	C	G	18	346290	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.284872960614714	0.4
18	346290	C	T	18	346290	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.319958906338516	0.412
18	346291	T	A	18	346291	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0362479904079207	0.296
18	346291	T	C	18	346291	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0231000908305092	0.316
18	346291	T	G	18	346291	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0310221457980719	0.318
18	346292	T	A	18	346292	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.126561721918664	0.43
18	346292	T	C	18	346292	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.9351218563964E-4	0.108
18	346292	T	G	18	346292	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.116886925719286	0.494
18	346293	A	C	18	346293	y	y	splicing	COLEC12(NM_130386:exon6:c.1327+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.1327+2T>G)	.	.	0.999984399620937	0.742
18	346293	A	G	18	346293	y	y	splicing	COLEC12(NM_130386:exon6:c.1327+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.1327+2T>C)	.	.	0.848485710338824	0.488
18	346293	A	T	18	346293	y	y	splicing	COLEC12(NM_130386:exon6:c.1327+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.1327+2T>A)	.	.	0.999980255680118	0.74
18	346294	C	A	18	346294	y	y	splicing	COLEC12(NM_130386:exon6:c.1327+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.1327+1G>T)	.	.	0.999954401362567	0.81
18	346294	C	G	18	346294	y	y	splicing	COLEC12(NM_130386:exon6:c.1327+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.1327+1G>C)	.	.	0.999975694284506	0.806
18	346294	C	T	18	346294	y	y	splicing	COLEC12(NM_130386:exon6:c.1327+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.1327+1G>A)	.	.	0.999954401362567	0.818
18	346295	C	A	18	346295	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.G1327T:p.G443C;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.G1327T:p.G443C;	0.639099444309493	0.514
18	346295	C	G	18	346295	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.G1327C:p.G443R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.G1327C:p.G443R;	0.819887396095349	0.61
18	346295	C	T	18	346295	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.G1327A:p.G443S;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.G1327A:p.G443S;	0.976506262581412	0.636
18	346296	T	A	18	346296	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.A1326T:p.Q442H;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.A1326T:p.Q442H;	0.052195600856745	0.342
18	346296	T	C	18	346296	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon5:c.A1326G:p.Q442Q;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.A1326G:p.Q442Q;	0.0427746568988296	0.266
18	346296	T	G	18	346296	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.A1326C:p.Q442H;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.A1326C:p.Q442H;	0.052195600856745	0.346
18	346297	T	A	18	346297	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.A1325T:p.Q442L;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.A1325T:p.Q442L;	0.077617281144741	0.216
18	346297	T	C	18	346297	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.A1325G:p.Q442R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.A1325G:p.Q442R;	4.64396516555628E-4	0.048
18	346297	T	G	18	346297	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.A1325C:p.Q442P;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.A1325C:p.Q442P;	5.77690570298744E-4	0.006
18	347340	A	C	18	347340	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon5:c.T282G:p.G94G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.T282G:p.G94G;	9.27009099628353E-4	0.038
18	347340	A	G	18	347340	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon5:c.T282C:p.G94G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.T282C:p.G94G;	4.30105289574608E-4	0.03
18	347340	A	T	18	347340	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon5:c.T282A:p.G94G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.T282A:p.G94G;	4.1058148994139E-4	0.026
18	347341	C	A	18	347341	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.G281T:p.G94V;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.G281T:p.G94V;	0.979480008411106	0.516
18	347341	C	G	18	347341	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.G281C:p.G94A;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.G281C:p.G94A;	0.936676023504226	0.478
18	347341	C	T	18	347341	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon5:c.G281A:p.G94D;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon5:c.G281A:p.G94D;	0.177744658200641	0.48
18	347342	C	A	18	347342	y	y	splicing	COLEC12(NM_130386:exon6:c.281-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.281-1G>T)	.	.	0.999974785031454	0.866
18	347342	C	G	18	347342	y	y	splicing	COLEC12(NM_130386:exon6:c.281-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.281-1G>C)	.	.	0.999975159880751	0.864
18	347342	C	T	18	347342	y	y	splicing	COLEC12(NM_130386:exon6:c.281-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.281-1G>A)	.	.	0.999974785031454	0.878
18	347343	T	A	18	347343	y	y	splicing	COLEC12(NM_130386:exon6:c.281-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.281-2A>T)	.	.	0.999962958601995	0.83
18	347343	T	C	18	347343	y	y	splicing	COLEC12(NM_130386:exon6:c.281-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.281-2A>G)	.	.	0.999962958601995	0.8
18	347343	T	G	18	347343	y	y	splicing	COLEC12(NM_130386:exon6:c.281-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon6:c.281-2A>C)	.	.	0.999962958601995	0.802
18	347344	G	A	18	347344	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00118219024188158	0.202
18	347344	G	C	18	347344	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.985654063505741	0.78
18	347344	G	T	18	347344	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.710476251718101	0.522
18	347345	G	A	18	347345	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.30756437030766E-5	0.042
18	347345	G	C	18	347345	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.78985615281245E-5	0.036
18	347345	G	T	18	347345	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.31113465377674E-5	0.078
18	347346	A	C	18	347346	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.279919824271184	0.326
18	347346	A	G	18	347346	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.04519648902976E-4	0.098
18	347346	A	T	18	347346	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.218928387188522	0.332
18	347347	A	C	18	347347	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.99989004006303	0.802
18	347347	A	G	18	347347	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.72484413953347E-5	0.018
18	347347	A	T	18	347347	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.16831635685287	0.51
18	347348	T	A	18	347348	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.23569507726187E-5	0.078
18	347348	T	C	18	347348	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.18235655973603E-5	0.07
18	347348	T	G	18	347348	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.04046004159866E-5	0.2
18	347349	A	C	18	347349	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00101504067328809	0.346
18	347349	A	G	18	347349	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.87949742292987E-5	0.056
18	347349	A	T	18	347349	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0100730377481851	0.28
18	347350	A	C	18	347350	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00176556820463703	0.334
18	347350	A	G	18	347350	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.82981379535351E-5	0.018
18	347350	A	T	18	347350	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00521215416893897	0.372
18	347351	G	A	18	347351	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.69119361147606E-5	0.024
18	347351	G	C	18	347351	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00106950188167263	0.216
18	347351	G	T	18	347351	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.02729855055659E-4	0.126
18	347352	A	C	18	347352	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.156869497383599	0.444
18	347352	A	G	18	347352	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00109685458117992	0.15
18	347352	A	T	18	347352	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.363896865992941	0.43
18	347353	A	C	18	347353	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00203861265235622	0.382
18	347353	A	G	18	347353	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.81685359031339E-5	0.012
18	347353	A	T	18	347353	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00616515423309155	0.446
18	348057	C	A	18	348057	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.81815136152283E-4	0.162
18	348057	C	G	18	348057	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.74637511621177E-4	0.104
18	348057	C	T	18	348057	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.17621199762496E-5	0.076
18	348058	A	C	18	348058	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.56733329096051E-5	0.056
18	348058	A	G	18	348058	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.56733329096051E-5	0.056
18	348058	A	T	18	348058	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.56733329096051E-5	0.114
18	348059	G	A	18	348059	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.20380419477519E-4	0.146
18	348059	G	C	18	348059	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.28061198110796E-4	0.198
18	348059	G	T	18	348059	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.62117181487011E-4	0.102
18	348060	A	C	18	348060	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.87920799117977E-5	0.106
18	348060	A	G	18	348060	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.01668829932467E-4	0.064
18	348060	A	T	18	348060	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	6.30839772222506E-5	0.08
18	348061	T	A	18	348061	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.105541175327067	0.482
18	348061	T	C	18	348061	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.937808841329091	0.656
18	348061	T	G	18	348061	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.117664325674424	0.4
18	348062	T	A	18	348062	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999457824435743	0.856
18	348062	T	C	18	348062	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.986851395866807	0.644
18	348062	T	G	18	348062	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999457824435743	0.846
18	348063	A	C	18	348063	y	y	splicing	COLEC12(NM_130386:exon5:c.280+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.280+2T>G)	.	.	0.999966514958823	0.958
18	348063	A	G	18	348063	y	y	splicing	COLEC12(NM_130386:exon5:c.280+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.280+2T>C)	.	.	0.976701896215444	0.646
18	348063	A	T	18	348063	y	y	splicing	COLEC12(NM_130386:exon5:c.280+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.280+2T>A)	.	.	0.999966203349492	0.954
18	348064	C	A	18	348064	y	y	splicing	COLEC12(NM_130386:exon5:c.280+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.280+1G>T)	.	.	0.999915710762489	0.944
18	348064	C	G	18	348064	y	y	splicing	COLEC12(NM_130386:exon5:c.280+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.280+1G>C)	.	.	0.999915710762489	0.936
18	348064	C	T	18	348064	y	y	splicing	COLEC12(NM_130386:exon5:c.280+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.280+1G>A)	.	.	0.999954468325363	0.944
18	348065	C	A	18	348065	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.G280T:p.G94C;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.G280T:p.G94C;	0.999953889640959	1.0
18	348065	C	G	18	348065	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.G280C:p.G94R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.G280C:p.G94R;	0.999989182958268	1.0
18	348065	C	T	18	348065	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.G280A:p.G94S;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.G280A:p.G94S;	0.99997325274631	1.0
18	348066	T	A	18	348066	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.A279T:p.L93F;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.A279T:p.L93F;	0.996639930253957	0.766
18	348066	T	C	18	348066	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon4:c.A279G:p.L93L;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.A279G:p.L93L;	0.84573437979938	0.648
18	348066	T	G	18	348066	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.A279C:p.L93F;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.A279C:p.L93F;	0.9516665864151	0.736
18	348067	A	C	18	348067	y	y	exonic	COLEC12	stopgain SNV	COLEC12:NM_130386:exon4:c.T278G:p.L93X;	exonic	ENSG00000158270	stopgain SNV	ENSG00000158270:ENST00000400256:exon4:c.T278G:p.L93X;	0.696104642039049	0.812
18	348067	A	G	18	348067	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.T278C:p.L93S;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.T278C:p.L93S;	0.0133726991826777	0.168
18	348067	A	T	18	348067	y	y	exonic	COLEC12	stopgain SNV	COLEC12:NM_130386:exon4:c.T278A:p.L93X;	exonic	ENSG00000158270	stopgain SNV	ENSG00000158270:ENST00000400256:exon4:c.T278A:p.L93X;	0.631432703069035	0.698
18	348162	A	C	18	348162	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon4:c.T183G:p.V61V;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.T183G:p.V61V;	3.06395797323876E-4	0.08
18	348162	A	G	18	348162	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon4:c.T183C:p.V61V;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.T183C:p.V61V;	1.10699938382492E-4	0.044
18	348162	A	T	18	348162	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon4:c.T183A:p.V61V;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.T183A:p.V61V;	0.00992257533819837	0.114
18	348163	A	C	18	348163	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.T182G:p.V61G;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.T182G:p.V61G;	0.00524081363529193	0.108
18	348163	A	G	18	348163	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.T182C:p.V61A;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.T182C:p.V61A;	0.00471811589055109	0.054
18	348163	A	T	18	348163	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon4:c.T182A:p.V61D;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon4:c.T182A:p.V61D;	0.00311022999183803	0.12
18	348164	C	A	18	348164	y	y	splicing	COLEC12(NM_130386:exon5:c.182-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.182-1G>T)	.	.	0.999937341878964	0.904
18	348164	C	G	18	348164	y	y	splicing	COLEC12(NM_130386:exon5:c.182-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.182-1G>C)	.	.	0.999937341878964	0.902
18	348164	C	T	18	348164	y	y	splicing	COLEC12(NM_130386:exon5:c.182-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.182-1G>A)	.	.	0.999937341878964	0.902
18	348165	T	A	18	348165	y	y	splicing	COLEC12(NM_130386:exon5:c.182-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.182-2A>T)	.	.	0.999974876897234	0.894
18	348165	T	C	18	348165	y	y	splicing	COLEC12(NM_130386:exon5:c.182-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.182-2A>G)	.	.	0.999971864448174	0.9
18	348165	T	G	18	348165	y	y	splicing	COLEC12(NM_130386:exon5:c.182-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon5:c.182-2A>C)	.	.	0.999971864448174	0.9
18	348166	A	C	18	348166	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.976376556303847	0.584
18	348166	A	G	18	348166	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.17897683843796E-5	0.032
18	348166	A	T	18	348166	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.388606160027246	0.372
18	348167	A	C	18	348167	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.71780142478553E-4	0.046
18	348167	A	G	18	348167	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.96940681088749E-4	0.036
18	348167	A	T	18	348167	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00129430145511729	0.086
18	348168	G	A	18	348168	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.35122821804195E-4	0.078
18	348168	G	C	18	348168	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00245591741462836	0.174
18	348168	G	T	18	348168	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.069423368300585	0.16
18	348169	A	C	18	348169	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.99983686155233	0.976
18	348169	A	G	18	348169	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.46502594919723E-5	0.03
18	348169	A	T	18	348169	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.659667404213287	0.602
18	348170	T	A	18	348170	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.79311323825592E-4	0.076
18	348170	T	C	18	348170	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998985401298706	0.91
18	348170	T	G	18	348170	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.79311323825592E-4	0.046
18	348171	T	A	18	348171	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.32049752092471E-5	0.044
18	348171	T	C	18	348171	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998852241405637	0.944
18	348171	T	G	18	348171	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.2027297589049E-5	0.022
18	348172	T	A	18	348172	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.63228352468852E-5	0.012
18	348172	T	C	18	348172	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.6908612178521E-5	0.018
18	348172	T	G	18	348172	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.75228003965384E-5	0.002
18	348173	G	A	18	348173	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.4856579636107E-5	0.07
18	348173	G	C	18	348173	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00867376870559819	0.182
18	348173	G	T	18	348173	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00134987530833051	0.054
18	348174	G	A	18	348174	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.90490079874827E-5	0.088
18	348174	G	C	18	348174	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0010871221207688	0.184
18	348174	G	T	18	348174	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0118846872006619	0.174
18	348175	A	C	18	348175	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.26881229069604	0.568
18	348175	A	G	18	348175	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.56056730488304E-4	0.116
18	348175	A	T	18	348175	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.653593116858941	0.602
18	357392	A	C	18	357392	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.26424982550682E-5	0.0
18	357392	A	G	18	357392	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.98493788762376E-5	0.0
18	357392	A	T	18	357392	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.98493788762376E-5	0.0
18	357393	T	A	18	357393	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.25744236322288E-5	0.006
18	357393	T	C	18	357393	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.55416644405842E-5	0.002
18	357393	T	G	18	357393	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.16222375701508E-5	0.002
18	357394	G	A	18	357394	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.29568602019923E-5	0.002
18	357394	G	C	18	357394	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.59078050125771E-5	0.034
18	357394	G	T	18	357394	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.26915336578261E-5	0.006
18	357395	C	A	18	357395	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.957391663689277	0.426
18	357395	C	G	18	357395	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.343506195044616	0.382
18	357395	C	T	18	357395	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.694937741541213	0.408
18	357396	T	A	18	357396	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.162219437988023	0.39
18	357396	T	C	18	357396	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.104857388051291	0.362
18	357396	T	G	18	357396	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0722945739572952	0.352
18	357397	T	A	18	357397	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.949326223979286	0.63
18	357397	T	C	18	357397	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0077073866365782	0.132
18	357397	T	G	18	357397	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.694163687092882	0.616
18	357398	A	C	18	357398	y	y	splicing	COLEC12(NM_130386:exon4:c.181+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.181+2T>G)	.	.	0.999896524849718	0.894
18	357398	A	G	18	357398	y	y	splicing	COLEC12(NM_130386:exon4:c.181+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.181+2T>C)	.	.	0.957247712442004	0.542
18	357398	A	T	18	357398	y	y	splicing	COLEC12(NM_130386:exon4:c.181+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.181+2T>A)	.	.	0.999945652454398	0.928
18	357399	C	A	18	357399	y	y	splicing	COLEC12(NM_130386:exon4:c.181+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.181+1G>T)	.	.	0.99993314117114	0.944
18	357399	C	G	18	357399	y	y	splicing	COLEC12(NM_130386:exon4:c.181+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.181+1G>C)	.	.	0.99993314117114	0.944
18	357399	C	T	18	357399	y	y	splicing	COLEC12(NM_130386:exon4:c.181+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.181+1G>A)	.	.	0.99993314117114	0.934
18	357400	C	A	18	357400	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.G181T:p.V61F;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.G181T:p.V61F;	0.999168716798902	0.974
18	357400	C	G	18	357400	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.G181C:p.V61L;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.G181C:p.V61L;	0.999867818855664	0.954
18	357400	C	T	18	357400	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.G181A:p.V61I;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.G181A:p.V61I;	0.999858157603353	0.968
18	357401	T	A	18	357401	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.A180T:p.K60N;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.A180T:p.K60N;	0.474488553666716	0.486
18	357401	T	C	18	357401	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon3:c.A180G:p.K60K;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.A180G:p.K60K;	0.239895501278788	0.354
18	357401	T	G	18	357401	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.A180C:p.K60N;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.A180C:p.K60N;	0.564759127922856	0.55
18	357402	T	A	18	357402	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.A179T:p.K60I;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.A179T:p.K60I;	0.350683640262893	0.426
18	357402	T	C	18	357402	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.A179G:p.K60R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.A179G:p.K60R;	6.30780302791881E-4	0.038
18	357402	T	G	18	357402	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.A179C:p.K60T;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.A179C:p.K60T;	0.00242430530025257	0.012
18	357521	A	C	18	357521	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon3:c.T60G:p.G20G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.T60G:p.G20G;	0.0061265376009745	0.118
18	357521	A	G	18	357521	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon3:c.T60C:p.G20G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.T60C:p.G20G;	0.00643113373584044	0.126
18	357521	A	T	18	357521	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon3:c.T60A:p.G20G;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.T60A:p.G20G;	0.00298539934368671	0.044
18	357522	C	A	18	357522	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.G59T:p.G20V;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.G59T:p.G20V;	0.940786130629309	0.848
18	357522	C	G	18	357522	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.G59C:p.G20A;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.G59C:p.G20A;	0.881713779420852	0.702
18	357522	C	T	18	357522	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon3:c.G59A:p.G20D;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon3:c.G59A:p.G20D;	0.672259903574425	0.396
18	357523	C	A	18	357523	y	y	splicing	COLEC12(NM_130386:exon4:c.59-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.59-1G>T)	.	.	0.999990361384395	0.936
18	357523	C	G	18	357523	y	y	splicing	COLEC12(NM_130386:exon4:c.59-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.59-1G>C)	.	.	0.999990361384395	0.936
18	357523	C	T	18	357523	y	y	splicing	COLEC12(NM_130386:exon4:c.59-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.59-1G>A)	.	.	0.999990361384395	0.936
18	357524	T	A	18	357524	y	y	splicing	COLEC12(NM_130386:exon4:c.59-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.59-2A>T)	.	.	0.999988247793601	0.928
18	357524	T	C	18	357524	y	y	splicing	COLEC12(NM_130386:exon4:c.59-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.59-2A>G)	.	.	0.999988247793601	0.878
18	357524	T	G	18	357524	y	y	splicing	COLEC12(NM_130386:exon4:c.59-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon4:c.59-2A>C)	.	.	0.999988247793601	0.878
18	357525	G	A	18	357525	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00337390197426917	0.08
18	357525	G	C	18	357525	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.99969739450153	0.894
18	357525	G	T	18	357525	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.47271737219285	0.418
18	357526	T	A	18	357526	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.43847914452673E-5	0.0
18	357526	T	C	18	357526	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.99230267740666E-5	0.004
18	357526	T	G	18	357526	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.49510430556061E-5	0.0
18	357527	A	C	18	357527	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.416580775068901	0.53
18	357527	A	G	18	357527	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0118606326603675	0.144
18	357527	A	T	18	357527	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.369680766878698	0.532
18	357528	A	C	18	357528	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.658198396972747	0.498
18	357528	A	G	18	357528	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.34408320939136E-4	0.028
18	357528	A	T	18	357528	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.576283654064578	0.478
18	357529	G	A	18	357529	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.50664886874919E-5	0.014
18	357529	G	C	18	357529	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.24609050626829E-4	0.074
18	357529	G	T	18	357529	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.69186478103764E-4	0.146
18	357530	A	C	18	357530	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00646940619611518	0.278
18	357530	A	G	18	357530	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.09300715324903E-5	0.014
18	357530	A	T	18	357530	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0247932506021123	0.286
18	357531	G	A	18	357531	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.26848964498332E-5	0.0
18	357531	G	C	18	357531	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.99732349920238E-5	0.004
18	357531	G	T	18	357531	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.68338531197387E-5	0.012
18	357532	A	C	18	357532	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0246046123648037	0.144
18	357532	A	G	18	357532	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.25481481883189E-5	0.004
18	357532	A	T	18	357532	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.042769748420054	0.214
18	357533	A	C	18	357533	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.105553718175788	0.466
18	357533	A	G	18	357533	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.01102956151391	0.146
18	357533	A	T	18	357533	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.172203872251968	0.442
18	357534	G	A	18	357534	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.69141471468489E-5	0.0
18	357534	G	C	18	357534	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.994102221341341	0.846
18	357534	G	T	18	357534	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.07615508966657E-5	0.008
18	480699	G	A	18	480699	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.41074476363104E-4	0.024
18	480699	G	C	18	480699	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.41074476363104E-4	0.026
18	480699	G	T	18	480699	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.41074476363104E-4	0.026
18	480700	G	A	18	480700	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.22894480314425E-4	0.01
18	480700	G	C	18	480700	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.99457205336832E-5	0.012
18	480700	G	T	18	480700	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.4588120502818E-4	0.014
18	480701	A	C	18	480701	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.994145548487911	0.878
18	480701	A	G	18	480701	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.992462616810446	0.754
18	480701	A	T	18	480701	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.997774912385791	0.852
18	480702	C	A	18	480702	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999971350438495	0.976
18	480702	C	G	18	480702	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999932521183981	0.986
18	480702	C	T	18	480702	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999953793319852	0.994
18	480703	T	A	18	480703	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999736049288206	0.956
18	480703	T	C	18	480703	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.996523557421496	0.888
18	480703	T	G	18	480703	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998582136623544	0.934
18	480704	C	A	18	480704	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.483843514303801	0.502
18	480704	C	G	18	480704	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.865581805045459	0.61
18	480704	C	T	18	480704	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.64526560328462E-5	0.0
18	480705	A	C	18	480705	y	y	splicing	COLEC12(NM_130386:exon3:c.58+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.58+2T>G)	.	.	0.999988247793601	0.928
18	480705	A	G	18	480705	y	y	splicing	COLEC12(NM_130386:exon3:c.58+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.58+2T>C)	.	.	0.999929727175276	0.856
18	480705	A	T	18	480705	y	y	splicing	COLEC12(NM_130386:exon3:c.58+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.58+2T>A)	.	.	0.999988247793601	0.928
18	480706	C	A	18	480706	y	y	splicing	COLEC12(NM_130386:exon3:c.58+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.58+1G>T)	.	.	0.999985532734767	0.938
18	480706	C	G	18	480706	y	y	splicing	COLEC12(NM_130386:exon3:c.58+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.58+1G>C)	.	.	0.999985532734767	0.938
18	480706	C	T	18	480706	y	y	splicing	COLEC12(NM_130386:exon3:c.58+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.58+1G>A)	.	.	0.999985532734767	0.938
18	480707	C	A	18	480707	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.G58T:p.G20C;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.G58T:p.G20C;	0.99999550591832	1.0
18	480707	C	G	18	480707	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.G58C:p.G20R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.G58C:p.G20R;	0.999987685428817	0.96
18	480707	C	T	18	480707	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.G58A:p.G20S;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.G58A:p.G20S;	0.999994673716792	1.0
18	480708	A	C	18	480708	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.T57G:p.F19L;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.T57G:p.F19L;	0.00620128765251238	0.068
18	480708	A	G	18	480708	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon2:c.T57C:p.F19F;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.T57C:p.F19F;	0.0229651690720633	0.148
18	480708	A	T	18	480708	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.T57A:p.F19L;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.T57A:p.F19L;	0.00693699654136456	0.236
18	480709	A	C	18	480709	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.T56G:p.F19C;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.T56G:p.F19C;	0.00413508156034879	0.052
18	480709	A	G	18	480709	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.T56C:p.F19S;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.T56C:p.F19S;	1.95287908571834E-4	0.002
18	480709	A	T	18	480709	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.T56A:p.F19Y;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.T56A:p.F19Y;	0.00828255140226792	0.25
18	480756	G	A	18	480756	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon2:c.C9T:p.D3D;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.C9T:p.D3D;	0.91637379298319	0.76
18	480756	G	C	18	480756	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.C9G:p.D3E;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.C9G:p.D3E;	0.981295926615481	0.648
18	480756	G	T	18	480756	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.C9A:p.D3E;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.C9A:p.D3E;	0.994620574123351	0.738
18	480757	T	A	18	480757	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.A8T:p.D3V;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.A8T:p.D3V;	0.35096345994466	0.55
18	480757	T	C	18	480757	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.A8G:p.D3G;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.A8G:p.D3G;	0.67289553559753	0.666
18	480757	T	G	18	480757	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon2:c.A8C:p.D3A;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon2:c.A8C:p.D3A;	0.262532700913594	0.566
18	480758	C	A	18	480758	y	y	splicing	COLEC12(NM_130386:exon3:c.8-1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.8-1G>T)	.	.	0.999990361384395	0.938
18	480758	C	G	18	480758	y	y	splicing	COLEC12(NM_130386:exon3:c.8-1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.8-1G>C)	.	.	0.999990361384395	0.936
18	480758	C	T	18	480758	y	y	splicing	COLEC12(NM_130386:exon3:c.8-1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.8-1G>A)	.	.	0.999990361384395	0.938
18	480759	T	A	18	480759	y	y	splicing	COLEC12(NM_130386:exon3:c.8-2A>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.8-2A>T)	.	.	0.999988247793601	0.928
18	480759	T	C	18	480759	y	y	splicing	COLEC12(NM_130386:exon3:c.8-2A>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.8-2A>G)	.	.	0.999988247793601	0.928
18	480759	T	G	18	480759	y	y	splicing	COLEC12(NM_130386:exon3:c.8-2A>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon3:c.8-2A>C)	.	.	0.999988247793601	0.928
18	480760	G	A	18	480760	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.016080314945474	0.186
18	480760	G	C	18	480760	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.999505953584731	0.956
18	480760	G	T	18	480760	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.871168406249659	0.678
18	480761	T	A	18	480761	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.95831898502552E-4	0.016
18	480761	T	C	18	480761	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.00330650606671E-4	0.0
18	480761	T	G	18	480761	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.41281478731934E-4	0.004
18	480762	G	A	18	480762	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.80248286061925E-5	0.0
18	480762	G	C	18	480762	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.68538771176256E-4	0.022
18	480762	G	T	18	480762	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.14926397098301E-5	0.008
18	480763	A	C	18	480763	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	4.9849216714241E-4	0.06
18	480763	A	G	18	480763	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.72430986262549E-5	0.0
18	480763	A	T	18	480763	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.94145887634887E-4	0.028
18	480764	G	A	18	480764	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.75723456840992E-5	0.002
18	480764	G	C	18	480764	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.04647823644949E-4	0.02
18	480764	G	T	18	480764	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.87653199220623E-4	0.098
18	480765	A	C	18	480765	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.8188451037361E-4	0.028
18	480765	A	G	18	480765	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.2318532672739E-4	0.002
18	480765	A	T	18	480765	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.38972353584964E-4	0.016
18	480766	G	A	18	480766	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.79068101484941E-5	0.0
18	480766	G	C	18	480766	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.1318496007783E-5	0.002
18	480766	G	T	18	480766	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.34840770545232E-5	0.008
18	480767	A	C	18	480767	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00523294019460537	0.262
18	480767	A	G	18	480767	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00111541879263259	0.05
18	480767	A	T	18	480767	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.0105644249208448	0.312
18	480768	A	C	18	480768	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.54023450776228E-4	0.184
18	480768	A	G	18	480768	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.76285338465216E-4	0.048
18	480768	A	T	18	480768	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.74245728792254E-4	0.154
18	480769	G	A	18	480769	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.29203489347423E-5	0.0
18	480769	G	C	18	480769	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.2166515593021E-5	0.006
18	480769	G	T	18	480769	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	8.31619280065041E-5	0.028
18	500500	C	A	18	500500	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00481459065410065	0.014
18	500500	C	G	18	500500	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00419307387719708	0.024
18	500500	C	T	18	500500	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.00192986464036423	0.02
18	500501	G	A	18	500501	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.35555524354895E-4	0.0
18	500501	G	C	18	500501	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.0230571627229E-4	0.024
18	500501	G	T	18	500501	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.34340372892163E-4	0.0
18	500502	C	A	18	500502	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	3.82849188723331E-5	0.008
18	500502	C	G	18	500502	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	5.73012702081272E-5	0.026
18	500502	C	T	18	500502	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	9.94829458131515E-5	0.004
18	500503	C	A	18	500503	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998600069546055	0.84
18	500503	C	G	18	500503	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.987865890820996	0.594
18	500503	C	T	18	500503	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.983421203048447	0.638
18	500504	C	A	18	500504	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	1.48217734858603E-4	0.05
18	500504	C	G	18	500504	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	2.93015487038274E-4	0.152
18	500504	C	T	18	500504	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	7.35054955012312E-4	0.036
18	500505	T	A	18	500505	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.99792052530422	0.868
18	500505	T	C	18	500505	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.876373717677921	0.738
18	500505	T	G	18	500505	y	y	intronic	COLEC12	.	.	intronic	ENSG00000158270	.	.	0.998959371036961	0.884
18	500506	A	C	18	500506	y	y	splicing	COLEC12(NM_130386:exon2:c.7+2T>G)	.	.	splicing	ENSG00000158270(ENST00000400256:exon2:c.7+2T>G)	.	.	0.999960807249974	0.92
18	500506	A	G	18	500506	y	y	splicing	COLEC12(NM_130386:exon2:c.7+2T>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon2:c.7+2T>C)	.	.	0.986156770302332	0.576
18	500506	A	T	18	500506	y	y	splicing	COLEC12(NM_130386:exon2:c.7+2T>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon2:c.7+2T>A)	.	.	0.999984811883222	0.92
18	500507	C	A	18	500507	y	y	splicing	COLEC12(NM_130386:exon2:c.7+1G>T)	.	.	splicing	ENSG00000158270(ENST00000400256:exon2:c.7+1G>T)	.	.	0.999989555203967	0.924
18	500507	C	G	18	500507	y	y	splicing	COLEC12(NM_130386:exon2:c.7+1G>C)	.	.	splicing	ENSG00000158270(ENST00000400256:exon2:c.7+1G>C)	.	.	0.999973047129219	0.924
18	500507	C	T	18	500507	y	y	splicing	COLEC12(NM_130386:exon2:c.7+1G>A)	.	.	splicing	ENSG00000158270(ENST00000400256:exon2:c.7+1G>A)	.	.	0.999989555203967	0.926
18	500508	C	A	18	500508	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon1:c.G7T:p.D3Y;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.G7T:p.D3Y;	0.999996221990697	0.99
18	500508	C	G	18	500508	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon1:c.G7C:p.D3H;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.G7C:p.D3H;	0.999998441034622	0.996
18	500508	C	T	18	500508	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon1:c.G7A:p.D3N;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.G7A:p.D3N;	0.999986368638272	0.996
18	500509	T	A	18	500509	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon1:c.A6T:p.K2N;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.A6T:p.K2N;	0.999624483278895	0.944
18	500509	T	C	18	500509	y	y	exonic	COLEC12	synonymous SNV	COLEC12:NM_130386:exon1:c.A6G:p.K2K;	exonic	ENSG00000158270	synonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.A6G:p.K2K;	0.999513702429765	0.922
18	500509	T	G	18	500509	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon1:c.A6C:p.K2N;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.A6C:p.K2N;	0.999043836738702	0.848
18	500510	T	A	18	500510	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon1:c.A5T:p.K2I;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.A5T:p.K2I;	0.409979175098858	0.57
18	500510	T	C	18	500510	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon1:c.A5G:p.K2R;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.A5G:p.K2R;	0.00437875904885154	0.124
18	500510	T	G	18	500510	y	y	exonic	COLEC12	nonsynonymous SNV	COLEC12:NM_130386:exon1:c.A5C:p.K2T;	exonic	ENSG00000158270	nonsynonymous SNV	ENSG00000158270:ENST00000400256:exon1:c.A5C:p.K2T;	0.00358546705249717	0.084
18	597127	C	A	18	597127	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	7.18924664478357E-5	0.004
18	597127	C	G	18	597127	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	7.18924664478357E-5	0.004
18	597127	C	T	18	597127	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	7.18924664478357E-5	0.004
18	597128	A	C	18	597128	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	9.42334554293701E-5	0.004
18	597128	A	G	18	597128	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.53098918991421E-5	0.004
18	597128	A	T	18	597128	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.2194139863653E-4	0.004
18	597129	G	A	18	597129	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.36567682305367E-5	0.002
18	597129	G	C	18	597129	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	4.99368953999463E-5	0.002
18	597129	G	T	18	597129	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.36567682305367E-5	0.002
18	597130	G	A	18	597130	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.05567792764038E-5	0.002
18	597130	G	C	18	597130	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.05567792764038E-5	0.012
18	597130	G	T	18	597130	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.05567792764038E-5	0.002
18	597131	T	A	18	597131	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	8.64905445396362E-5	0.0
18	597131	T	C	18	597131	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	8.64905445396362E-5	0.0
18	597131	T	G	18	597131	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	8.64905445396362E-5	0.0
18	597132	G	A	18	597132	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.66426746904339E-5	0.0
18	597132	G	C	18	597132	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.84430896923724E-5	0.0
18	597132	G	T	18	597132	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.66426746904339E-5	0.0
18	597133	A	C	18	597133	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.04278140930798E-5	0.01
18	597133	A	G	18	597133	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.04278140930798E-5	0.01
18	597133	A	T	18	597133	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.04278140930798E-5	0.01
18	597134	G	A	18	597134	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.24453633365032E-5	0.0
18	597134	G	C	18	597134	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.24453633365032E-5	0.0
18	597134	G	T	18	597134	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.24453633365032E-5	0.0
18	597135	A	C	18	597135	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.86075475573093E-5	0.0
18	597135	A	G	18	597135	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.86075475573093E-5	0.0
18	597135	A	T	18	597135	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.86075475573093E-5	0.0
18	597136	A	C	18	597136	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.86075475573093E-5	0.0
18	597136	A	G	18	597136	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.86075475573093E-5	0.0
18	597136	A	T	18	597136	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.06520082605731E-4	0.0
18	597137	C	A	18	597137	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.69930370103191E-5	0.002
18	597137	C	G	18	597137	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.69930370103191E-5	0.0
18	597137	C	T	18	597137	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.69930370103191E-5	0.0
18	598488	A	C	18	598488	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.89861551796331E-5	0.004
18	598488	A	G	18	598488	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.89861551796331E-5	0.004
18	598488	A	T	18	598488	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.99153316237132E-5	0.002
18	598489	A	C	18	598489	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.28765212796676E-5	0.004
18	598489	A	G	18	598489	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.28765212796676E-5	0.004
18	598489	A	T	18	598489	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.28765212796676E-5	0.0
18	598490	C	A	18	598490	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.58928398576996E-5	0.036
18	598490	C	G	18	598490	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.58928398576996E-5	0.034
18	598490	C	T	18	598490	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.58928398576996E-5	0.036
18	598491	A	C	18	598491	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.89861551796331E-5	0.0
18	598491	A	G	18	598491	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.89861551796331E-5	0.0
18	598491	A	T	18	598491	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.89861551796331E-5	0.0
18	598492	T	A	18	598492	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	2.60684386776114E-5	0.0
18	598492	T	C	18	598492	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	2.60684386776114E-5	0.0
18	598492	T	G	18	598492	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	2.60684386776114E-5	0.0
18	598493	C	A	18	598493	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.58928398576996E-5	0.034
18	598493	C	G	18	598493	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.58928398576996E-5	0.034
18	598493	C	T	18	598493	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.58928398576996E-5	0.034
18	598494	C	A	18	598494	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	3.73961589007702E-5	0.0
18	598494	C	G	18	598494	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	3.73961589007702E-5	0.0
18	598494	C	T	18	598494	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	3.73961589007702E-5	0.0
18	598495	T	A	18	598495	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.09337574150394E-6	0.0
18	598495	T	C	18	598495	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.09337574150394E-6	0.0
18	598495	T	G	18	598495	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.09337574150394E-6	0.0
18	598496	C	A	18	598496	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.89861551796331E-5	0.002
18	598496	C	G	18	598496	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.89861551796331E-5	0.002
18	598496	C	T	18	598496	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.89861551796331E-5	0.012
18	598497	T	A	18	598497	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.48939760707245E-6	0.0
18	598497	T	C	18	598497	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.48939760707245E-6	0.0
18	598497	T	G	18	598497	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.48939760707245E-6	0.0
18	598498	A	C	18	598498	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.9583731583923E-5	0.0
18	598498	A	G	18	598498	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.9583731583923E-5	0.0
18	598498	A	T	18	598498	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.9583731583923E-5	0.0
18	598499	G	A	18	598499	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	9.1226050581124E-5	0.046
18	598499	G	C	18	598499	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	9.1226050581124E-5	0.046
18	598499	G	T	18	598499	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	9.1226050581124E-5	0.046
18	598500	G	A	18	598500	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	2.64191646885158E-5	0.01
18	598500	G	C	18	598500	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.71037163550947E-5	0.036
18	598500	G	T	18	598500	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.71037163550947E-5	0.012
18	598501	C	A	18	598501	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	2.05746745428764E-5	0.004
18	598501	C	G	18	598501	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	2.05746745428764E-5	0.002
18	598501	C	T	18	598501	n	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	2.05746745428764E-5	0.004
18	598580	C	A	18	598580	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.C60A:p.H20Q;	6.96088900269208E-5	0.086
18	598580	C	G	18	598580	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.C60G:p.H20Q;	6.96088900269208E-5	0.072
18	598580	C	T	18	598580	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.C60T:p.H20H;	9.4611324767424E-5	0.018
18	598581	T	A	18	598581	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.T61A:p.C21S;	4.64726965068443E-5	0.004
18	598581	T	C	18	598581	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.T61C:p.C21R;	2.61811153049764E-5	0.004
18	598581	T	G	18	598581	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.T61G:p.C21G;	2.61811153049764E-5	0.004
18	598582	G	A	18	598582	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.G62A:p.C21Y;	5.93342926190926E-5	0.066
18	598582	G	C	18	598582	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.G62C:p.C21S;	6.76061474843718E-5	0.072
18	598582	G	T	18	598582	n	y	intronic	CLUL1	.	.	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon1:c.G62T:p.C21F;	5.93342926190926E-5	0.066
18	598583	G	A	18	598583	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101(ENST00000581619:exon1:c.62+1G>A)	.	.	4.52932449848953E-5	0.006
18	598583	G	C	18	598583	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101(ENST00000581619:exon1:c.62+1G>C)	.	.	6.05670308788612E-5	0.014
18	598583	G	T	18	598583	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101(ENST00000581619:exon1:c.62+1G>T)	.	.	6.05670308788612E-5	0.12
18	598584	T	A	18	598584	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101(ENST00000581619:exon1:c.62+2T>A)	.	.	3.29172098833992E-5	0.006
18	598584	T	C	18	598584	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101(ENST00000581619:exon1:c.62+2T>C)	.	.	2.13105871323179E-5	0.004
18	598584	T	G	18	598584	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101(ENST00000581619:exon1:c.62+2T>G)	.	.	2.13105871323179E-5	0.004
18	598585	G	A	18	598585	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0015431907952587	0.036
18	598585	G	C	18	598585	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00206254363979435	0.042
18	598585	G	T	18	598585	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00206254363979435	0.06
18	598586	A	C	18	598586	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.31524023438878E-4	0.016
18	598586	A	G	18	598586	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.31524023438878E-4	0.016
18	598586	A	T	18	598586	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.53161245857248E-4	0.016
18	598587	G	A	18	598587	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.74480241737554E-4	0.0
18	598587	G	C	18	598587	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.33308296055063E-4	0.068
18	598587	G	T	18	598587	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.74480241737554E-4	0.048
18	598588	C	A	18	598588	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.77791352621521E-5	0.0
18	598588	C	G	18	598588	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.77791352621521E-5	0.0
18	598588	C	T	18	598588	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.77791352621521E-5	0.0
18	598589	A	C	18	598589	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.49497729749774E-5	0.0
18	598589	A	G	18	598589	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.49497729749774E-5	0.0
18	598589	A	T	18	598589	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.49497729749774E-5	0.0
18	598590	G	A	18	598590	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.55705114011452E-5	0.01
18	598590	G	C	18	598590	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.55705114011452E-5	0.0
18	598590	G	T	18	598590	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.55705114011452E-5	0.0
18	606966	T	A	18	606966	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.63141535133926E-5	0.0
18	606966	T	C	18	606966	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.63141535133926E-5	0.0
18	606966	T	G	18	606966	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.63141535133926E-5	0.0
18	606967	C	A	18	606967	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.70357316916945E-5	0.0
18	606967	C	G	18	606967	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.70357316916945E-5	0.0
18	606967	C	T	18	606967	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.70357316916945E-5	0.0
18	606968	T	A	18	606968	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.63141535133926E-5	0.0
18	606968	T	C	18	606968	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.70357316916945E-5	0.002
18	606968	T	G	18	606968	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.70357316916945E-5	0.002
18	606969	T	A	18	606969	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606969	T	C	18	606969	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606969	T	G	18	606969	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606970	T	A	18	606970	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	606970	T	C	18	606970	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	606970	T	G	18	606970	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	606971	T	A	18	606971	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.026
18	606971	T	C	18	606971	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.024
18	606971	T	G	18	606971	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.024
18	606972	C	A	18	606972	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606972	C	G	18	606972	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606972	C	T	18	606972	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606973	T	A	18	606973	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606973	T	C	18	606973	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606973	T	G	18	606973	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606974	T	A	18	606974	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	606974	T	C	18	606974	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	606974	T	G	18	606974	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	606975	T	A	18	606975	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.026
18	606975	T	C	18	606975	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.024
18	606975	T	G	18	606975	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.024
18	606976	A	C	18	606976	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606976	A	G	18	606976	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606976	A	T	18	606976	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606977	G	A	18	606977	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.1036365348547E-5	0.006
18	606977	G	C	18	606977	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.1036365348547E-5	0.006
18	606977	G	T	18	606977	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	2.1036365348547E-5	0.006
18	606978	A	C	18	606978	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	9.57123356397867E-5	0.008
18	606978	A	G	18	606978	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	9.57123356397867E-5	0.008
18	606978	A	T	18	606978	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	9.57123356397867E-5	0.008
18	606979	G	A	18	606979	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606979	G	C	18	606979	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	606979	G	T	18	606979	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	607097	C	A	18	607097	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon2:c.C18A:p.Y6X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon2:c.C18A:p.Y6X;ENSG00000079101:ENST00000579912:exon3:c.C18A:p.Y6X;	0.00178429347460167	0.008
18	607097	C	G	18	607097	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon2:c.C18G:p.Y6X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon2:c.C18G:p.Y6X;ENSG00000079101:ENST00000579912:exon3:c.C18G:p.Y6X;	0.00151108457616126	0.002
18	607097	C	T	18	607097	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon2:c.C18T:p.Y6Y;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon2:c.C18T:p.Y6Y;ENSG00000079101:ENST00000579912:exon3:c.C18T:p.Y6Y;	9.57123356397867E-5	0.024
18	607098	A	C	18	607098	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon2:c.A19C:p.R7R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000579912:exon3:c.A19C:p.S7R;	9.57123356397867E-5	0.014
18	607098	A	G	18	607098	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon2:c.A19G:p.R7G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon2:c.A19G:p.R7G;ENSG00000079101:ENST00000579912:exon3:c.A19G:p.S7G;	3.08739841361144E-4	0.01
18	607098	A	T	18	607098	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon2:c.A19T:p.R7X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon2:c.A19T:p.R7X;	3.48768971735042E-4	0.122
18	607099	G	A	18	607099	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon2:c.G20A:p.R7K;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon2:c.G20A:p.R7K;ENSG00000079101:ENST00000579912:exon3:c.G20A:p.S7N;	5.69439264402225E-5	0.0
18	607099	G	C	18	607099	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon2:c.G20C:p.R7T;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon2:c.G20C:p.R7T;ENSG00000079101:ENST00000579912:exon3:c.G20C:p.S7T;	6.89925739660516E-5	0.004
18	607099	G	T	18	607099	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon2:c.G20T:p.R7I;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon2:c.G20T:p.R7I;ENSG00000079101:ENST00000579912:exon3:c.G20T:p.S7I;	5.15941453541388E-5	0.002
18	607100	G	A	18	607100	y	y	splicing	CLUL1(NM_001289036:exon2:c.20+1G>A)	.	.	splicing	ENSG00000079101(ENST00000579912:exon3:c.20+1G>A;ENST00000540035:exon2:c.20+1G>A)	.	.	9.57123356397867E-5	0.008
18	607100	G	C	18	607100	y	y	splicing	CLUL1(NM_001289036:exon2:c.20+1G>C)	.	.	splicing	ENSG00000079101(ENST00000579912:exon3:c.20+1G>C;ENST00000540035:exon2:c.20+1G>C)	.	.	9.57123356397867E-5	0.008
18	607100	G	T	18	607100	y	y	splicing	CLUL1(NM_001289036:exon2:c.20+1G>T)	.	.	splicing	ENSG00000079101(ENST00000579912:exon3:c.20+1G>T;ENST00000540035:exon2:c.20+1G>T)	.	.	9.57123356397867E-5	0.008
18	607101	T	A	18	607101	y	y	splicing	CLUL1(NM_001289036:exon2:c.20+2T>A)	.	.	splicing	ENSG00000079101(ENST00000579912:exon3:c.20+2T>A;ENST00000540035:exon2:c.20+2T>A)	.	.	3.07620641825897E-5	0.0
18	607101	T	C	18	607101	y	y	splicing	CLUL1(NM_001289036:exon2:c.20+2T>C)	.	.	splicing	ENSG00000079101(ENST00000579912:exon3:c.20+2T>C;ENST00000540035:exon2:c.20+2T>C)	.	.	1.99153316237132E-5	0.0
18	607101	T	G	18	607101	y	y	splicing	CLUL1(NM_001289036:exon2:c.20+2T>G)	.	.	splicing	ENSG00000079101(ENST00000579912:exon3:c.20+2T>G;ENST00000540035:exon2:c.20+2T>G)	.	.	1.99153316237132E-5	0.0
18	607102	A	C	18	607102	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.018
18	607102	A	G	18	607102	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.018
18	607102	A	T	18	607102	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.57123356397867E-5	0.014
18	607103	T	A	18	607103	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	607103	T	C	18	607103	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	607103	T	G	18	607103	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	607104	G	A	18	607104	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.016
18	607104	G	C	18	607104	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.014
18	607104	G	T	18	607104	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.014
18	607105	C	A	18	607105	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	607105	C	G	18	607105	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	607105	C	T	18	607105	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	607106	A	C	18	607106	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	607106	A	G	18	607106	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	607106	A	T	18	607106	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	607107	C	A	18	607107	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.014
18	607107	C	G	18	607107	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.014
18	607107	C	T	18	607107	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.19654958573966E-5	0.018
18	613147	A	C	18	613147	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.014
18	613147	A	G	18	613147	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.014
18	613147	A	T	18	613147	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.014
18	613148	T	A	18	613148	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.014
18	613148	T	C	18	613148	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.014
18	613148	T	G	18	613148	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.014
18	613149	T	A	18	613149	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.76502774581184E-5	0.0
18	613149	T	C	18	613149	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.76502774581184E-5	0.002
18	613149	T	G	18	613149	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.76502774581184E-5	0.0
18	613150	T	A	18	613150	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.016
18	613150	T	C	18	613150	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.014
18	613150	T	G	18	613150	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.014
18	613151	T	A	18	613151	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.68804097905464E-5	0.008
18	613151	T	C	18	613151	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.68804097905464E-5	0.008
18	613151	T	G	18	613151	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.68804097905464E-5	0.008
18	613152	T	A	18	613152	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.30338091304305E-5	0.0
18	613152	T	C	18	613152	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.30338091304305E-5	0.0
18	613152	T	G	18	613152	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.30338091304305E-5	0.0
18	613153	T	A	18	613153	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.02
18	613153	T	C	18	613153	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.68804097905464E-5	0.02
18	613153	T	G	18	613153	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.68804097905464E-5	0.02
18	613154	T	A	18	613154	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60742385600787E-5	0.02
18	613154	T	C	18	613154	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.68804097905464E-5	0.02
18	613154	T	G	18	613154	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.68804097905464E-5	0.02
18	613155	T	A	18	613155	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.14267203131726E-5	0.0
18	613155	T	C	18	613155	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.14267203131726E-5	0.0
18	613155	T	G	18	613155	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.14267203131726E-5	0.0
18	613156	G	A	18	613156	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.28940461414424E-6	0.0
18	613156	G	C	18	613156	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.28940461414424E-6	0.0
18	613156	G	T	18	613156	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.28940461414424E-6	0.0
18	613157	A	C	18	613157	y	y	splicing	CLUL1(NM_001289036:exon3:c.21-2A>C)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.21-2A>C)	.	.	2.60742385600787E-5	0.024
18	613157	A	G	18	613157	y	y	splicing	CLUL1(NM_001289036:exon3:c.21-2A>G)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.21-2A>G)	.	.	2.60742385600787E-5	0.024
18	613157	A	T	18	613157	y	y	splicing	CLUL1(NM_001289036:exon3:c.21-2A>T)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.21-2A>T)	.	.	6.18905158676629E-5	0.026
18	613158	G	A	18	613158	y	y	splicing	CLUL1(NM_001289036:exon3:c.21-1G>A)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.21-1G>A)	.	.	2.45277156108894E-5	0.0
18	613158	G	C	18	613158	y	y	splicing	CLUL1(NM_001289036:exon3:c.21-1G>C)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.21-1G>C)	.	.	2.45277156108894E-5	0.0
18	613158	G	T	18	613158	y	y	splicing	CLUL1(NM_001289036:exon3:c.21-1G>T)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.21-1G>T)	.	.	2.45277156108894E-5	0.0
18	613159	A	C	18	613159	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.A21C:p.R7S;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.A21C:p.R7S;	3.83490353963229E-5	0.008
18	613159	A	G	18	613159	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon3:c.A21G:p.R7R;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.A21G:p.R7R;	5.43179510623962E-5	0.026
18	613159	A	T	18	613159	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.A21T:p.R7S;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.A21T:p.R7S;	3.83490353963229E-5	0.008
18	613160	T	A	18	613160	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.T22A:p.W8R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.T22A:p.W8R;	1.87464006456298E-5	0.002
18	613160	T	C	18	613160	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.T22C:p.W8R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.T22C:p.W8R;	2.13921893900412E-5	0.008
18	613160	T	G	18	613160	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.T22G:p.W8G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.T22G:p.W8G;	1.96638438091922E-5	0.0
18	613279	T	A	18	613279	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon3:c.T141A:p.Y47X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon3:c.T141A:p.Y47X;	6.7898797240203E-5	0.07
18	613279	T	C	18	613279	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon3:c.T141C:p.Y47Y;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.T141C:p.Y47Y;	2.68219155180855E-5	0.0
18	613279	T	G	18	613279	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon3:c.T141G:p.Y47X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon3:c.T141G:p.Y47X;	7.50650218446955E-5	0.066
18	613280	A	C	18	613280	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.A142C:p.S48R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.A142C:p.S48R;	4.62829891511816E-5	0.002
18	613280	A	G	18	613280	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.A142G:p.S48G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.A142G:p.S48G;	6.18905158676629E-5	0.014
18	613280	A	T	18	613280	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.A142T:p.S48C;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.A142T:p.S48C;	3.83490353963229E-5	0.002
18	613281	G	A	18	613281	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.G143A:p.S48N;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.G143A:p.S48N;	5.90468307674474E-5	0.006
18	613281	G	C	18	613281	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.G143C:p.S48T;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.G143C:p.S48T;	2.15358342454107E-5	0.014
18	613281	G	T	18	613281	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon3:c.G143T:p.S48I;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon3:c.G143T:p.S48I;	2.15358342454107E-5	0.014
18	613282	G	A	18	613282	y	y	splicing	CLUL1(NM_001289036:exon3:c.143+1G>A)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.143+1G>A)	.	.	3.32651317629065E-5	0.018
18	613282	G	C	18	613282	y	y	splicing	CLUL1(NM_001289036:exon3:c.143+1G>C)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.143+1G>C)	.	.	3.32651317629065E-5	0.014
18	613282	G	T	18	613282	y	y	splicing	CLUL1(NM_001289036:exon3:c.143+1G>T)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.143+1G>T)	.	.	3.32651317629065E-5	0.014
18	613283	T	A	18	613283	y	y	splicing	CLUL1(NM_001289036:exon3:c.143+2T>A)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.143+2T>A)	.	.	1.99153316237132E-5	0.0
18	613283	T	C	18	613283	y	y	splicing	CLUL1(NM_001289036:exon3:c.143+2T>C)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.143+2T>C)	.	.	1.99153316237132E-5	0.0
18	613283	T	G	18	613283	y	y	splicing	CLUL1(NM_001289036:exon3:c.143+2T>G)	.	.	splicing	ENSG00000079101(ENST00000540035:exon3:c.143+2T>G)	.	.	1.99153316237132E-5	0.0
18	613284	G	A	18	613284	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.15358342454107E-5	0.014
18	613284	G	C	18	613284	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.15358342454107E-5	0.014
18	613284	G	T	18	613284	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.15358342454107E-5	0.014
18	613285	C	A	18	613285	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	613285	C	G	18	613285	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	613285	C	T	18	613285	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.45277156108894E-5	0.0
18	613286	G	A	18	613286	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	613286	G	C	18	613286	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	613286	G	T	18	613286	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	613287	T	A	18	613287	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	613287	T	C	18	613287	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	613287	T	G	18	613287	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	613288	G	A	18	613288	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.15358342454107E-5	0.014
18	613288	G	C	18	613288	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.15358342454107E-5	0.014
18	613288	G	T	18	613288	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.15358342454107E-5	0.014
18	613289	C	A	18	613289	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.95311407513361E-6	0.0
18	613289	C	G	18	613289	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.95311407513361E-6	0.0
18	613289	C	T	18	613289	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.95311407513361E-6	0.0
18	616755	A	C	18	616755	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.00220081121308182	0.09
18	616755	A	G	18	616755	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.0391521858473992	0.242
18	616755	A	T	18	616755	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.996920365088084	0.836
18	616756	A	C	18	616756	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.995867360304572	0.9
18	616756	A	G	18	616756	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.999763912251783	0.952
18	616756	A	T	18	616756	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.993083364745444	0.854
18	616757	A	C	18	616757	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.0591670767595594	0.16
18	616757	A	G	18	616757	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	4.25607456654343E-4	0.054
18	616757	A	T	18	616757	y	y	UTR5	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.439114507442012	0.286
18	616758	G	A	18	616758	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.999723784950328	0.638
18	616758	G	C	18	616758	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.999723784950328	0.636
18	616758	G	T	18	616758	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.999723784950328	0.636
18	616759	T	A	18	616759	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.999982399457696	0.774
18	616759	T	C	18	616759	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.803994505268587	0.448
18	616759	T	G	18	616759	y	y	splicing	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.999975484273506	0.776
18	616760	T	A	18	616760	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	1.31788402670667E-4	0.02
18	616760	T	C	18	616760	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	6.11336144812649E-4	0.116
18	616760	T	G	18	616760	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	2.11201106781549E-4	0.098
18	616761	A	C	18	616761	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.693578838544363	0.54
18	616761	A	G	18	616761	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.824841371821261	0.556
18	616761	A	T	18	616761	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.781344656020214	0.55
18	616762	G	A	18	616762	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.999924969637527	0.96
18	616762	G	C	18	616762	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.999960482696825	0.936
18	616762	G	T	18	616762	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.999960482696825	0.938
18	616763	T	A	18	616763	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.984347134515579	0.554
18	616763	T	C	18	616763	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.975349118169766	0.578
18	616763	T	G	18	616763	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.971543402379977	0.634
18	616764	G	A	18	616764	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.00623404579323782	0.05
18	616764	G	C	18	616764	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.00629916944963604	0.054
18	616764	G	T	18	616764	y	y	intronic	CLUL1	.	.	UTR5	ENSG00000079101	.	.	0.0145185690525979	0.18
18	616765	G	A	18	616765	y	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.012163077204911	0.07
18	616765	G	C	18	616765	y	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.00996117291971099	0.08
18	616765	G	T	18	616765	y	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	0.00996117291971099	0.074
18	616766	T	A	18	616766	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	7.70373002829532E-4	0.008
18	616766	T	C	18	616766	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	7.83041080521012E-4	0.006
18	616766	T	G	18	616766	n	y	intronic	CLUL1	.	.	splicing	ENSG00000079101	.	.	7.83041080521012E-4	0.006
18	616767	A	C	18	616767	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00295790569149578	0.014
18	616767	A	G	18	616767	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00295790569149578	0.014
18	616767	A	T	18	616767	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00437100848571084	0.012
18	616768	A	C	18	616768	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00230665580346477	0.016
18	616768	A	G	18	616768	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00230665580346477	0.014
18	616768	A	T	18	616768	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00295790569149578	0.012
18	616769	A	C	18	616769	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.4056203239404E-5	0.074
18	616769	A	G	18	616769	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.4056203239404E-5	0.074
18	616769	A	T	18	616769	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.18839112743867E-4	0.068
18	616770	T	A	18	616770	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.77978745885032E-4	0.002
18	616770	T	C	18	616770	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.77978745885032E-4	0.002
18	616770	T	G	18	616770	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.77978745885032E-4	0.002
18	616771	A	C	18	616771	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00118117989979101	0.016
18	616771	A	G	18	616771	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00118117989979101	0.016
18	616771	A	T	18	616771	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00118117989979101	0.012
18	616772	C	A	18	616772	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	616772	C	G	18	616772	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	616772	C	T	18	616772	n	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.99153316237132E-5	0.0
18	617976	T	A	18	617976	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00133177914065283	0.092
18	617976	T	C	18	617976	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.1230004561258E-4	0.004
18	617976	T	G	18	617976	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.83816974950612E-4	0.056
18	617977	T	A	18	617977	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.36882629481378E-4	0.16
18	617977	T	C	18	617977	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.51990031267294E-5	0.014
18	617977	T	G	18	617977	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.49105406053918E-4	0.13
18	617978	T	A	18	617978	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00185510367356787	0.114
18	617978	T	C	18	617978	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.69569199313075E-4	0.004
18	617978	T	G	18	617978	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.36388809807371E-4	0.064
18	617979	C	A	18	617979	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.09187220501209E-4	0.092
18	617979	C	G	18	617979	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.50559960965795E-4	0.088
18	617979	C	T	18	617979	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.24433035644209E-4	0.032
18	617980	C	A	18	617980	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.70450593067191E-5	0.014
18	617980	C	G	18	617980	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.495774866382E-5	0.014
18	617980	C	T	18	617980	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.95487371778022E-5	0.0
18	617981	T	A	18	617981	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00163939262723083	0.11
18	617981	T	C	18	617981	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.99695501509998E-4	0.022
18	617981	T	G	18	617981	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.05173594027049E-4	0.108
18	617982	T	A	18	617982	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.06407369898203E-4	0.028
18	617982	T	C	18	617982	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.45602557269153E-5	0.0
18	617982	T	G	18	617982	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.16343779999826E-4	0.034
18	617983	T	A	18	617983	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999200254302398	0.938
18	617983	T	C	18	617983	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.95566704999273E-5	0.006
18	617983	T	G	18	617983	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.94337187139649E-4	0.094
18	617984	G	A	18	617984	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.83376341496741E-5	0.016
18	617984	G	C	18	617984	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.14708770277202E-5	0.01
18	617984	G	T	18	617984	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.45945217200515E-5	0.018
18	617985	C	A	18	617985	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.840916506427258	0.516
18	617985	C	G	18	617985	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.99989845752973	0.934
18	617985	C	T	18	617985	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0107381720277694	0.244
18	617986	A	C	18	617986	y	y	splicing	CLUL1(NM_001289036:exon4:c.144-2A>C)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.21-2A>C;ENST00000540035:exon4:c.144-2A>C;ENST00000581619:exon2:c.63-2A>C)	.	.	0.999986348107035	0.744
18	617986	A	G	18	617986	y	y	splicing	CLUL1(NM_001289036:exon4:c.144-2A>G)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.21-2A>G;ENST00000540035:exon4:c.144-2A>G;ENST00000581619:exon2:c.63-2A>G)	.	.	0.999986348107035	0.744
18	617986	A	T	18	617986	y	y	splicing	CLUL1(NM_001289036:exon4:c.144-2A>T)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.21-2A>T;ENST00000540035:exon4:c.144-2A>T;ENST00000581619:exon2:c.63-2A>T)	.	.	0.999986348107035	0.746
18	617987	G	A	18	617987	y	y	splicing	CLUL1(NM_001289036:exon4:c.144-1G>A)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.21-1G>A;ENST00000540035:exon4:c.144-1G>A;ENST00000581619:exon2:c.63-1G>A)	.	.	0.999974353892859	0.75
18	617987	G	C	18	617987	y	y	splicing	CLUL1(NM_001289036:exon4:c.144-1G>C)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.21-1G>C;ENST00000540035:exon4:c.144-1G>C;ENST00000581619:exon2:c.63-1G>C)	.	.	0.999974353892859	0.746
18	617987	G	T	18	617987	y	y	splicing	CLUL1(NM_001289036:exon4:c.144-1G>T)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.21-1G>T;ENST00000540035:exon4:c.144-1G>T;ENST00000581619:exon2:c.63-1G>T)	.	.	0.999974353892859	0.748
18	617988	T	A	18	617988	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.T144A:p.S48R;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000581619:exon2:c.T63A:p.C21X;	4.46351935456672E-4	0.436
18	617988	T	C	18	617988	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon4:c.T144C:p.S48S;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.T144C:p.S48S;ENSG00000079101:ENST00000581619:exon2:c.T63C:p.C21C;ENSG00000079101:ENST00000579912:exon4:c.T21C:p.S7S;	1.9278800605149E-5	0.014
18	617988	T	G	18	617988	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.T144G:p.S48R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.T144G:p.S48R;ENSG00000079101:ENST00000581619:exon2:c.T63G:p.C21W;ENSG00000079101:ENST00000579912:exon4:c.T21G:p.S7R;	9.92117996399194E-4	0.218
18	617989	A	C	18	617989	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A145C:p.N49H;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A145C:p.N49H;ENSG00000079101:ENST00000581619:exon2:c.A64C:p.N22H;ENSG00000079101:ENST00000579912:exon4:c.A22C:p.N8H;	2.9793607481664E-4	0.02
18	617989	A	G	18	617989	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A145G:p.N49D;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A145G:p.N49D;ENSG00000079101:ENST00000581619:exon2:c.A64G:p.N22D;ENSG00000079101:ENST00000579912:exon4:c.A22G:p.N8D;	6.32735885288566E-5	0.01
18	617989	A	T	18	617989	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A145T:p.N49Y;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A145T:p.N49Y;ENSG00000079101:ENST00000581619:exon2:c.A64T:p.N22Y;ENSG00000079101:ENST00000579912:exon4:c.A22T:p.N8Y;	4.15718762307922E-5	0.0
18	618104	A	C	18	618104	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A260C:p.K87T;CLUL1:NM_014410:exon2:c.A104C:p.K35T;CLUL1:NM_199167:exon2:c.A104C:p.K35T;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A260C:p.K87T;ENSG00000079101:ENST00000581619:exon2:c.A179C:p.K60T;ENSG00000079101:ENST00000400606:exon2:c.A104C:p.K35T;ENSG00000079101:ENST00000579912:exon4:c.A137C:p.K46T;ENSG00000079101:ENST00000579494:exon2:c.A104C:p.K35T;ENSG00000079101:ENST00000338387:exon2:c.A104C:p.K35T;	0.636071804456048	0.45
18	618104	A	G	18	618104	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A260G:p.K87R;CLUL1:NM_014410:exon2:c.A104G:p.K35R;CLUL1:NM_199167:exon2:c.A104G:p.K35R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A260G:p.K87R;ENSG00000079101:ENST00000581619:exon2:c.A179G:p.K60R;ENSG00000079101:ENST00000400606:exon2:c.A104G:p.K35R;ENSG00000079101:ENST00000579912:exon4:c.A137G:p.K46R;ENSG00000079101:ENST00000579494:exon2:c.A104G:p.K35R;ENSG00000079101:ENST00000338387:exon2:c.A104G:p.K35R;	0.885189459962715	0.498
18	618104	A	T	18	618104	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A260T:p.K87M;CLUL1:NM_014410:exon2:c.A104T:p.K35M;CLUL1:NM_199167:exon2:c.A104T:p.K35M;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A260T:p.K87M;ENSG00000079101:ENST00000581619:exon2:c.A179T:p.K60M;ENSG00000079101:ENST00000400606:exon2:c.A104T:p.K35M;ENSG00000079101:ENST00000579912:exon4:c.A137T:p.K46M;ENSG00000079101:ENST00000579494:exon2:c.A104T:p.K35M;ENSG00000079101:ENST00000338387:exon2:c.A104T:p.K35M;	0.998620170752401	0.824
18	618105	G	A	18	618105	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon4:c.G261A:p.K87K;CLUL1:NM_014410:exon2:c.G105A:p.K35K;CLUL1:NM_199167:exon2:c.G105A:p.K35K;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.G261A:p.K87K;ENSG00000079101:ENST00000581619:exon2:c.G180A:p.K60K;ENSG00000079101:ENST00000400606:exon2:c.G105A:p.K35K;ENSG00000079101:ENST00000579912:exon4:c.G138A:p.K46K;ENSG00000079101:ENST00000579494:exon2:c.G105A:p.K35K;ENSG00000079101:ENST00000338387:exon2:c.G105A:p.K35K;	4.93766185796044E-4	0.148
18	618105	G	C	18	618105	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.G261C:p.K87N;CLUL1:NM_014410:exon2:c.G105C:p.K35N;CLUL1:NM_199167:exon2:c.G105C:p.K35N;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.G261C:p.K87N;ENSG00000079101:ENST00000581619:exon2:c.G180C:p.K60N;ENSG00000079101:ENST00000400606:exon2:c.G105C:p.K35N;ENSG00000079101:ENST00000579912:exon4:c.G138C:p.K46N;ENSG00000079101:ENST00000579494:exon2:c.G105C:p.K35N;ENSG00000079101:ENST00000338387:exon2:c.G105C:p.K35N;	7.46411997453988E-4	0.1
18	618105	G	T	18	618105	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.G261T:p.K87N;CLUL1:NM_014410:exon2:c.G105T:p.K35N;CLUL1:NM_199167:exon2:c.G105T:p.K35N;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.G261T:p.K87N;ENSG00000079101:ENST00000581619:exon2:c.G180T:p.K60N;ENSG00000079101:ENST00000400606:exon2:c.G105T:p.K35N;ENSG00000079101:ENST00000579912:exon4:c.G138T:p.K46N;ENSG00000079101:ENST00000579494:exon2:c.G105T:p.K35N;ENSG00000079101:ENST00000338387:exon2:c.G105T:p.K35N;	0.010189931537005	0.29
18	618106	A	C	18	618106	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A262C:p.S88R;CLUL1:NM_014410:exon2:c.A106C:p.S36R;CLUL1:NM_199167:exon2:c.A106C:p.S36R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A262C:p.S88R;ENSG00000079101:ENST00000581619:exon2:c.A181C:p.S61R;ENSG00000079101:ENST00000400606:exon2:c.A106C:p.S36R;ENSG00000079101:ENST00000579912:exon4:c.A139C:p.S47R;ENSG00000079101:ENST00000579494:exon2:c.A106C:p.S36R;ENSG00000079101:ENST00000338387:exon2:c.A106C:p.S36R;	1.68984140798621E-4	0.066
18	618106	A	G	18	618106	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A262G:p.S88G;CLUL1:NM_014410:exon2:c.A106G:p.S36G;CLUL1:NM_199167:exon2:c.A106G:p.S36G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A262G:p.S88G;ENSG00000079101:ENST00000581619:exon2:c.A181G:p.S61G;ENSG00000079101:ENST00000400606:exon2:c.A106G:p.S36G;ENSG00000079101:ENST00000579912:exon4:c.A139G:p.S47G;ENSG00000079101:ENST00000579494:exon2:c.A106G:p.S36G;ENSG00000079101:ENST00000338387:exon2:c.A106G:p.S36G;	1.69949802355878E-4	0.12
18	618106	A	T	18	618106	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon4:c.A262T:p.S88C;CLUL1:NM_014410:exon2:c.A106T:p.S36C;CLUL1:NM_199167:exon2:c.A106T:p.S36C;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon4:c.A262T:p.S88C;ENSG00000079101:ENST00000581619:exon2:c.A181T:p.S61C;ENSG00000079101:ENST00000400606:exon2:c.A106T:p.S36C;ENSG00000079101:ENST00000579912:exon4:c.A139T:p.S47C;ENSG00000079101:ENST00000579494:exon2:c.A106T:p.S36C;ENSG00000079101:ENST00000338387:exon2:c.A106T:p.S36C;	0.0145214020677492	0.174
18	618107	G	A	18	618107	y	y	splicing	CLUL1(NM_014410:exon2:c.106+1G>A;NM_001289036:exon4:c.262+1G>A;NM_199167:exon2:c.106+1G>A)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.139+1G>A;ENST00000400606:exon2:c.106+1G>A;ENST00000540035:exon4:c.262+1G>A;ENST00000581619:exon2:c.181+1G>A;ENST00000338387:exon2:c.106+1G>A;ENST00000579494:exon2:c.106+1G>A)	.	.	0.999966996458791	0.868
18	618107	G	C	18	618107	y	y	splicing	CLUL1(NM_014410:exon2:c.106+1G>C;NM_001289036:exon4:c.262+1G>C;NM_199167:exon2:c.106+1G>C)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.139+1G>C;ENST00000400606:exon2:c.106+1G>C;ENST00000540035:exon4:c.262+1G>C;ENST00000581619:exon2:c.181+1G>C;ENST00000338387:exon2:c.106+1G>C;ENST00000579494:exon2:c.106+1G>C)	.	.	0.999966996458791	0.826
18	618107	G	T	18	618107	y	y	splicing	CLUL1(NM_014410:exon2:c.106+1G>T;NM_001289036:exon4:c.262+1G>T;NM_199167:exon2:c.106+1G>T)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.139+1G>T;ENST00000400606:exon2:c.106+1G>T;ENST00000540035:exon4:c.262+1G>T;ENST00000581619:exon2:c.181+1G>T;ENST00000338387:exon2:c.106+1G>T;ENST00000579494:exon2:c.106+1G>T)	.	.	0.999966996458791	0.852
18	618108	T	A	18	618108	y	y	splicing	CLUL1(NM_014410:exon2:c.106+2T>A;NM_001289036:exon4:c.262+2T>A;NM_199167:exon2:c.106+2T>A)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.139+2T>A;ENST00000400606:exon2:c.106+2T>A;ENST00000540035:exon4:c.262+2T>A;ENST00000581619:exon2:c.181+2T>A;ENST00000338387:exon2:c.106+2T>A;ENST00000579494:exon2:c.106+2T>A)	.	.	0.999970890420065	0.812
18	618108	T	C	18	618108	y	y	splicing	CLUL1(NM_014410:exon2:c.106+2T>C;NM_001289036:exon4:c.262+2T>C;NM_199167:exon2:c.106+2T>C)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.139+2T>C;ENST00000400606:exon2:c.106+2T>C;ENST00000540035:exon4:c.262+2T>C;ENST00000581619:exon2:c.181+2T>C;ENST00000338387:exon2:c.106+2T>C;ENST00000579494:exon2:c.106+2T>C)	.	.	0.957789441219177	0.566
18	618108	T	G	18	618108	y	y	splicing	CLUL1(NM_014410:exon2:c.106+2T>G;NM_001289036:exon4:c.262+2T>G;NM_199167:exon2:c.106+2T>G)	.	.	splicing	ENSG00000079101(ENST00000579912:exon4:c.139+2T>G;ENST00000400606:exon2:c.106+2T>G;ENST00000540035:exon4:c.262+2T>G;ENST00000581619:exon2:c.181+2T>G;ENST00000338387:exon2:c.106+2T>G;ENST00000579494:exon2:c.106+2T>G)	.	.	0.999970890420065	0.806
18	618109	A	C	18	618109	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999902039657656	0.888
18	618109	A	G	18	618109	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.751214589722052	0.566
18	618109	A	T	18	618109	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999869112862495	0.888
18	618110	C	A	18	618110	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.43983688261383E-5	0.02
18	618110	C	G	18	618110	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.74274910788759E-4	0.046
18	618110	C	T	18	618110	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.42871128842558E-5	0.008
18	618111	G	A	18	618111	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999908399155071	0.856
18	618111	G	C	18	618111	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999968102088219	0.918
18	618111	G	T	18	618111	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999924383624626	0.858
18	618112	T	A	18	618112	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.988264516099168	0.716
18	618112	T	C	18	618112	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.986430889766583	0.696
18	618112	T	G	18	618112	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.981019324064436	0.688
18	618113	T	A	18	618113	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.92370547209634E-5	0.0
18	618113	T	C	18	618113	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.43570165843012E-4	0.004
18	618113	T	G	18	618113	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.24362595471991E-4	0.014
18	618114	T	A	18	618114	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.03330733498681E-4	0.012
18	618114	T	C	18	618114	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.1930492655505E-5	0.0
18	618114	T	G	18	618114	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.97245352745059E-4	0.018
18	619201	C	A	18	619201	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.99757883583588E-5	0.026
18	619201	C	G	18	619201	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.947449193305971	0.634
18	619201	C	T	18	619201	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.17970545718731E-5	0.0
18	619202	A	C	18	619202	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.21079777484179E-5	0.028
18	619202	A	G	18	619202	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.19725082184337E-5	0.1
18	619202	A	T	18	619202	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.21079777484179E-5	0.048
18	619203	T	A	18	619203	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999705748210254	0.956
18	619203	T	C	18	619203	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.10916994535597E-4	0.144
18	619203	T	G	18	619203	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.99977354071977	0.944
18	619204	G	A	18	619204	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.90359843031244E-4	0.1
18	619204	G	C	18	619204	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.59205413612943E-5	0.116
18	619204	G	T	18	619204	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.59205413612943E-5	0.178
18	619205	T	A	18	619205	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0142097831231145	0.328
18	619205	T	C	18	619205	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.21774392577277E-6	0.008
18	619205	T	G	18	619205	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0126289323732478	0.358
18	619206	C	A	18	619206	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.09907124773663E-4	0.144
18	619206	C	G	18	619206	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.04295723425749E-4	0.188
18	619206	C	T	18	619206	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.32758511362892E-5	0.012
18	619207	T	A	18	619207	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.176264586061547	0.376
18	619207	T	C	18	619207	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.26393575229007E-5	0.024
18	619207	T	G	18	619207	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.591922829253082	0.478
18	619208	T	A	18	619208	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.905129763295425	0.554
18	619208	T	C	18	619208	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.47750139957701E-4	0.152
18	619208	T	G	18	619208	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.557183517792993	0.458
18	619209	T	A	18	619209	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.48052683246327E-5	0.012
18	619209	T	C	18	619209	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.12587677330038E-5	0.006
18	619209	T	G	18	619209	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00129331626779747	0.128
18	619210	T	A	18	619210	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00326643098690975	0.236
18	619210	T	C	18	619210	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.38411612992279E-5	0.008
18	619210	T	G	18	619210	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.815418762560148	0.676
18	619211	A	C	18	619211	y	y	splicing	CLUL1(NM_014410:exon3:c.107-2A>C;NM_001289036:exon5:c.263-2A>C;NM_199167:exon3:c.107-2A>C)	.	.	splicing	ENSG00000079101(ENST00000579912:exon5:c.140-2A>C;ENST00000400606:exon3:c.107-2A>C;ENST00000540035:exon5:c.263-2A>C;ENST00000581619:exon3:c.182-2A>C;ENST00000338387:exon3:c.107-2A>C;ENST00000579494:exon3:c.107-2A>C)	.	.	0.999962958601995	0.796
18	619211	A	G	18	619211	y	y	splicing	CLUL1(NM_014410:exon3:c.107-2A>G;NM_001289036:exon5:c.263-2A>G;NM_199167:exon3:c.107-2A>G)	.	.	splicing	ENSG00000079101(ENST00000579912:exon5:c.140-2A>G;ENST00000400606:exon3:c.107-2A>G;ENST00000540035:exon5:c.263-2A>G;ENST00000581619:exon3:c.182-2A>G;ENST00000338387:exon3:c.107-2A>G;ENST00000579494:exon3:c.107-2A>G)	.	.	0.999962958601995	0.792
18	619211	A	T	18	619211	y	y	splicing	CLUL1(NM_014410:exon3:c.107-2A>T;NM_001289036:exon5:c.263-2A>T;NM_199167:exon3:c.107-2A>T)	.	.	splicing	ENSG00000079101(ENST00000579912:exon5:c.140-2A>T;ENST00000400606:exon3:c.107-2A>T;ENST00000540035:exon5:c.263-2A>T;ENST00000581619:exon3:c.182-2A>T;ENST00000338387:exon3:c.107-2A>T;ENST00000579494:exon3:c.107-2A>T)	.	.	0.999962958601995	0.824
18	619212	G	A	18	619212	y	y	splicing	CLUL1(NM_014410:exon3:c.107-1G>A;NM_001289036:exon5:c.263-1G>A;NM_199167:exon3:c.107-1G>A)	.	.	splicing	ENSG00000079101(ENST00000579912:exon5:c.140-1G>A;ENST00000400606:exon3:c.107-1G>A;ENST00000540035:exon5:c.263-1G>A;ENST00000581619:exon3:c.182-1G>A;ENST00000338387:exon3:c.107-1G>A;ENST00000579494:exon3:c.107-1G>A)	.	.	0.999952286258862	0.872
18	619212	G	C	18	619212	y	y	splicing	CLUL1(NM_014410:exon3:c.107-1G>C;NM_001289036:exon5:c.263-1G>C;NM_199167:exon3:c.107-1G>C)	.	.	splicing	ENSG00000079101(ENST00000579912:exon5:c.140-1G>C;ENST00000400606:exon3:c.107-1G>C;ENST00000540035:exon5:c.263-1G>C;ENST00000581619:exon3:c.182-1G>C;ENST00000338387:exon3:c.107-1G>C;ENST00000579494:exon3:c.107-1G>C)	.	.	0.999952286258862	0.86
18	619212	G	T	18	619212	y	y	splicing	CLUL1(NM_014410:exon3:c.107-1G>T;NM_001289036:exon5:c.263-1G>T;NM_199167:exon3:c.107-1G>T)	.	.	splicing	ENSG00000079101(ENST00000579912:exon5:c.140-1G>T;ENST00000400606:exon3:c.107-1G>T;ENST00000540035:exon5:c.263-1G>T;ENST00000581619:exon3:c.182-1G>T;ENST00000338387:exon3:c.107-1G>T;ENST00000579494:exon3:c.107-1G>T)	.	.	0.999952286258862	0.848
18	619213	G	A	18	619213	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.G263A:p.S88N;CLUL1:NM_014410:exon3:c.G107A:p.S36N;CLUL1:NM_199167:exon3:c.G107A:p.S36N;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.G263A:p.S88N;ENSG00000079101:ENST00000581619:exon3:c.G182A:p.S61N;ENSG00000079101:ENST00000400606:exon3:c.G107A:p.S36N;ENSG00000079101:ENST00000579912:exon5:c.G140A:p.S47N;ENSG00000079101:ENST00000579494:exon3:c.G107A:p.S36N;ENSG00000079101:ENST00000338387:exon3:c.G107A:p.S36N;	0.0167496163245469	0.336
18	619213	G	C	18	619213	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.G263C:p.S88T;CLUL1:NM_014410:exon3:c.G107C:p.S36T;CLUL1:NM_199167:exon3:c.G107C:p.S36T;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.G263C:p.S88T;ENSG00000079101:ENST00000581619:exon3:c.G182C:p.S61T;ENSG00000079101:ENST00000400606:exon3:c.G107C:p.S36T;ENSG00000079101:ENST00000579912:exon5:c.G140C:p.S47T;ENSG00000079101:ENST00000579494:exon3:c.G107C:p.S36T;ENSG00000079101:ENST00000338387:exon3:c.G107C:p.S36T;	0.176948513691882	0.45
18	619213	G	T	18	619213	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.G263T:p.S88I;CLUL1:NM_014410:exon3:c.G107T:p.S36I;CLUL1:NM_199167:exon3:c.G107T:p.S36I;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.G263T:p.S88I;ENSG00000079101:ENST00000581619:exon3:c.G182T:p.S61I;ENSG00000079101:ENST00000400606:exon3:c.G107T:p.S36I;ENSG00000079101:ENST00000579912:exon5:c.G140T:p.S47I;ENSG00000079101:ENST00000579494:exon3:c.G107T:p.S36I;ENSG00000079101:ENST00000338387:exon3:c.G107T:p.S36I;	0.821158312762537	0.61
18	619214	T	A	18	619214	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.T264A:p.S88R;CLUL1:NM_014410:exon3:c.T108A:p.S36R;CLUL1:NM_199167:exon3:c.T108A:p.S36R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.T264A:p.S88R;ENSG00000079101:ENST00000581619:exon3:c.T183A:p.S61R;ENSG00000079101:ENST00000400606:exon3:c.T108A:p.S36R;ENSG00000079101:ENST00000579912:exon5:c.T141A:p.S47R;ENSG00000079101:ENST00000579494:exon3:c.T108A:p.S36R;ENSG00000079101:ENST00000338387:exon3:c.T108A:p.S36R;	7.70796944058281E-4	0.06
18	619214	T	C	18	619214	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon5:c.T264C:p.S88S;CLUL1:NM_014410:exon3:c.T108C:p.S36S;CLUL1:NM_199167:exon3:c.T108C:p.S36S;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.T264C:p.S88S;ENSG00000079101:ENST00000581619:exon3:c.T183C:p.S61S;ENSG00000079101:ENST00000400606:exon3:c.T108C:p.S36S;ENSG00000079101:ENST00000579912:exon5:c.T141C:p.S47S;ENSG00000079101:ENST00000579494:exon3:c.T108C:p.S36S;ENSG00000079101:ENST00000338387:exon3:c.T108C:p.S36S;	8.81365392696429E-4	0.156
18	619214	T	G	18	619214	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.T264G:p.S88R;CLUL1:NM_014410:exon3:c.T108G:p.S36R;CLUL1:NM_199167:exon3:c.T108G:p.S36R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.T264G:p.S88R;ENSG00000079101:ENST00000581619:exon3:c.T183G:p.S61R;ENSG00000079101:ENST00000400606:exon3:c.T108G:p.S36R;ENSG00000079101:ENST00000579912:exon5:c.T141G:p.S47R;ENSG00000079101:ENST00000579494:exon3:c.T108G:p.S36R;ENSG00000079101:ENST00000338387:exon3:c.T108G:p.S36R;	0.00115187281923159	0.11
18	619359	C	A	18	619359	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.C409A:p.Q137K;CLUL1:NM_014410:exon3:c.C253A:p.Q85K;CLUL1:NM_199167:exon3:c.C253A:p.Q85K;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.C409A:p.Q137K;ENSG00000079101:ENST00000581619:exon3:c.C328A:p.Q110K;ENSG00000079101:ENST00000400606:exon3:c.C253A:p.Q85K;ENSG00000079101:ENST00000579494:exon3:c.C253A:p.Q85K;ENSG00000079101:ENST00000338387:exon3:c.C253A:p.Q85K;	0.0123861968306917	0.14
18	619359	C	G	18	619359	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.C409G:p.Q137E;CLUL1:NM_014410:exon3:c.C253G:p.Q85E;CLUL1:NM_199167:exon3:c.C253G:p.Q85E;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.C409G:p.Q137E;ENSG00000079101:ENST00000581619:exon3:c.C328G:p.Q110E;ENSG00000079101:ENST00000400606:exon3:c.C253G:p.Q85E;ENSG00000079101:ENST00000579494:exon3:c.C253G:p.Q85E;ENSG00000079101:ENST00000338387:exon3:c.C253G:p.Q85E;	0.388143033874353	0.484
18	619359	C	T	18	619359	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon5:c.C409T:p.Q137X;CLUL1:NM_014410:exon3:c.C253T:p.Q85X;CLUL1:NM_199167:exon3:c.C253T:p.Q85X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon5:c.C409T:p.Q137X;ENSG00000079101:ENST00000581619:exon3:c.C328T:p.Q110X;ENSG00000079101:ENST00000400606:exon3:c.C253T:p.Q85X;ENSG00000079101:ENST00000579494:exon3:c.C253T:p.Q85X;ENSG00000079101:ENST00000338387:exon3:c.C253T:p.Q85X;	0.99978026939743	0.99
18	619360	A	C	18	619360	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.A410C:p.Q137P;CLUL1:NM_014410:exon3:c.A254C:p.Q85P;CLUL1:NM_199167:exon3:c.A254C:p.Q85P;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.A410C:p.Q137P;ENSG00000079101:ENST00000581619:exon3:c.A329C:p.Q110P;ENSG00000079101:ENST00000400606:exon3:c.A254C:p.Q85P;ENSG00000079101:ENST00000579494:exon3:c.A254C:p.Q85P;ENSG00000079101:ENST00000338387:exon3:c.A254C:p.Q85P;	0.999850714452618	0.992
18	619360	A	G	18	619360	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.A410G:p.Q137R;CLUL1:NM_014410:exon3:c.A254G:p.Q85R;CLUL1:NM_199167:exon3:c.A254G:p.Q85R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.A410G:p.Q137R;ENSG00000079101:ENST00000581619:exon3:c.A329G:p.Q110R;ENSG00000079101:ENST00000400606:exon3:c.A254G:p.Q85R;ENSG00000079101:ENST00000579494:exon3:c.A254G:p.Q85R;ENSG00000079101:ENST00000338387:exon3:c.A254G:p.Q85R;	0.999885912326022	1.0
18	619360	A	T	18	619360	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.A410T:p.Q137L;CLUL1:NM_014410:exon3:c.A254T:p.Q85L;CLUL1:NM_199167:exon3:c.A254T:p.Q85L;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.A410T:p.Q137L;ENSG00000079101:ENST00000581619:exon3:c.A329T:p.Q110L;ENSG00000079101:ENST00000400606:exon3:c.A254T:p.Q85L;ENSG00000079101:ENST00000579494:exon3:c.A254T:p.Q85L;ENSG00000079101:ENST00000338387:exon3:c.A254T:p.Q85L;	0.999885473608691	0.986
18	619361	G	A	18	619361	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon5:c.G411A:p.Q137Q;CLUL1:NM_014410:exon3:c.G255A:p.Q85Q;CLUL1:NM_199167:exon3:c.G255A:p.Q85Q;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.G411A:p.Q137Q;ENSG00000079101:ENST00000581619:exon3:c.G330A:p.Q110Q;ENSG00000079101:ENST00000400606:exon3:c.G255A:p.Q85Q;ENSG00000079101:ENST00000579494:exon3:c.G255A:p.Q85Q;ENSG00000079101:ENST00000338387:exon3:c.G255A:p.Q85Q;	0.999986732004165	0.996
18	619361	G	C	18	619361	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.G411C:p.Q137H;CLUL1:NM_014410:exon3:c.G255C:p.Q85H;CLUL1:NM_199167:exon3:c.G255C:p.Q85H;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.G411C:p.Q137H;ENSG00000079101:ENST00000581619:exon3:c.G330C:p.Q110H;ENSG00000079101:ENST00000400606:exon3:c.G255C:p.Q85H;ENSG00000079101:ENST00000579494:exon3:c.G255C:p.Q85H;ENSG00000079101:ENST00000338387:exon3:c.G255C:p.Q85H;	0.999995763721828	0.992
18	619361	G	T	18	619361	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon5:c.G411T:p.Q137H;CLUL1:NM_014410:exon3:c.G255T:p.Q85H;CLUL1:NM_199167:exon3:c.G255T:p.Q85H;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon5:c.G411T:p.Q137H;ENSG00000079101:ENST00000581619:exon3:c.G330T:p.Q110H;ENSG00000079101:ENST00000400606:exon3:c.G255T:p.Q85H;ENSG00000079101:ENST00000579494:exon3:c.G255T:p.Q85H;ENSG00000079101:ENST00000338387:exon3:c.G255T:p.Q85H;	0.999993631034169	0.986
18	619362	G	A	18	619362	y	y	splicing	CLUL1(NM_014410:exon3:c.255+1G>A;NM_001289036:exon5:c.411+1G>A;NM_199167:exon3:c.255+1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon3:c.255+1G>A;ENST00000540035:exon5:c.411+1G>A;ENST00000581619:exon3:c.330+1G>A;ENST00000338387:exon3:c.255+1G>A;ENST00000579494:exon3:c.255+1G>A)	.	.	0.999981760802075	0.942
18	619362	G	C	18	619362	y	y	splicing	CLUL1(NM_014410:exon3:c.255+1G>C;NM_001289036:exon5:c.411+1G>C;NM_199167:exon3:c.255+1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon3:c.255+1G>C;ENST00000540035:exon5:c.411+1G>C;ENST00000581619:exon3:c.330+1G>C;ENST00000338387:exon3:c.255+1G>C;ENST00000579494:exon3:c.255+1G>C)	.	.	0.999981760802075	0.94
18	619362	G	T	18	619362	y	y	splicing	CLUL1(NM_014410:exon3:c.255+1G>T;NM_001289036:exon5:c.411+1G>T;NM_199167:exon3:c.255+1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon3:c.255+1G>T;ENST00000540035:exon5:c.411+1G>T;ENST00000581619:exon3:c.330+1G>T;ENST00000338387:exon3:c.255+1G>T;ENST00000579494:exon3:c.255+1G>T)	.	.	0.999981760802075	0.942
18	619363	T	A	18	619363	y	y	splicing	CLUL1(NM_014410:exon3:c.255+2T>A;NM_001289036:exon5:c.411+2T>A;NM_199167:exon3:c.255+2T>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon3:c.255+2T>A;ENST00000540035:exon5:c.411+2T>A;ENST00000581619:exon3:c.330+2T>A;ENST00000338387:exon3:c.255+2T>A;ENST00000579494:exon3:c.255+2T>A)	.	.	0.999989917668626	0.926
18	619363	T	C	18	619363	y	y	splicing	CLUL1(NM_014410:exon3:c.255+2T>C;NM_001289036:exon5:c.411+2T>C;NM_199167:exon3:c.255+2T>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon3:c.255+2T>C;ENST00000540035:exon5:c.411+2T>C;ENST00000581619:exon3:c.330+2T>C;ENST00000338387:exon3:c.255+2T>C;ENST00000579494:exon3:c.255+2T>C)	.	.	0.992323021482646	0.63
18	619363	T	G	18	619363	y	y	splicing	CLUL1(NM_014410:exon3:c.255+2T>G;NM_001289036:exon5:c.411+2T>G;NM_199167:exon3:c.255+2T>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon3:c.255+2T>G;ENST00000540035:exon5:c.411+2T>G;ENST00000581619:exon3:c.330+2T>G;ENST00000338387:exon3:c.255+2T>G;ENST00000579494:exon3:c.255+2T>G)	.	.	0.999989917668626	0.926
18	619364	A	C	18	619364	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999799871327525	0.916
18	619364	A	G	18	619364	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.953233729863476	0.636
18	619364	A	T	18	619364	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999613787266873	0.91
18	619365	C	A	18	619365	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.60731690351443E-5	0.078
18	619365	C	G	18	619365	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.05008535834791E-4	0.164
18	619365	C	T	18	619365	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00112730881699464	0.286
18	619366	A	C	18	619366	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.15081477650996E-4	0.01
18	619366	A	G	18	619366	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.80194790718499E-5	0.046
18	619366	A	T	18	619366	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.06689624242228E-4	0.014
18	619367	G	A	18	619367	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.55127211547724E-4	0.084
18	619367	G	C	18	619367	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.79907390023085E-4	0.082
18	619367	G	T	18	619367	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.01065746083376E-4	0.036
18	619368	T	A	18	619368	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.001089077273418	0.004
18	619368	T	C	18	619368	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.86749124123989E-4	0.004
18	619368	T	G	18	619368	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.02873971112002E-4	0.004
18	619369	C	A	18	619369	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.82152694110954E-6	0.0
18	619369	C	G	18	619369	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.6815803950322E-6	0.0
18	619369	C	T	18	619369	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.82152694110954E-6	0.0
18	624853	A	C	18	624853	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.6858594992653E-5	0.0
18	624853	A	G	18	624853	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.46645182145882E-5	0.018
18	624853	A	T	18	624853	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.6858594992653E-5	0.0
18	624854	C	A	18	624854	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.3684736804272E-4	0.07
18	624854	C	G	18	624854	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.998191993706394	0.948
18	624854	C	T	18	624854	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.12293464143522E-4	0.006
18	624855	T	A	18	624855	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.128565427209706	0.52
18	624855	T	C	18	624855	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.03690509194972E-4	0.06
18	624855	T	G	18	624855	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0435833637784199	0.528
18	624856	T	A	18	624856	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0131283154468094	0.3
18	624856	T	C	18	624856	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.77642911288324E-4	0.078
18	624856	T	G	18	624856	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00227110471436559	0.308
18	624857	T	A	18	624857	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00184832269296876	0.254
18	624857	T	C	18	624857	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.24752409782426E-5	0.0
18	624857	T	G	18	624857	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00186585433339193	0.246
18	624858	T	A	18	624858	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00611291332164649	0.194
18	624858	T	C	18	624858	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.29668630541867E-5	0.06
18	624858	T	G	18	624858	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0015434763751327	0.198
18	624859	A	C	18	624859	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.14850099410303E-5	0.0
18	624859	A	G	18	624859	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.15318779054909E-5	0.0
18	624859	A	T	18	624859	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.2427086477487E-5	0.004
18	624860	A	C	18	624860	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.60414610291245E-4	0.002
18	624860	A	G	18	624860	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999165354978839	0.996
18	624860	A	T	18	624860	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.44943325954982E-4	0.142
18	624861	C	A	18	624861	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.11619738030609E-5	0.0
18	624861	C	G	18	624861	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.991797467356357	0.958
18	624861	C	T	18	624861	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.59200283678836E-5	0.002
18	624862	T	A	18	624862	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.933609105862216	0.578
18	624862	T	C	18	624862	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.51918929973619E-4	0.02
18	624862	T	G	18	624862	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999164134058439	0.788
18	624863	A	C	18	624863	y	y	splicing	CLUL1(NM_014410:exon4:c.256-2A>C;NM_001289036:exon6:c.412-2A>C;NM_199167:exon4:c.256-2A>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.256-2A>C;ENST00000540035:exon6:c.412-2A>C;ENST00000581619:exon4:c.331-2A>C;ENST00000338387:exon4:c.256-2A>C;ENST00000579494:exon4:c.256-2A>C)	.	.	0.999975706799895	0.944
18	624863	A	G	18	624863	y	y	splicing	CLUL1(NM_014410:exon4:c.256-2A>G;NM_001289036:exon6:c.412-2A>G;NM_199167:exon4:c.256-2A>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.256-2A>G;ENST00000540035:exon6:c.412-2A>G;ENST00000581619:exon4:c.331-2A>G;ENST00000338387:exon4:c.256-2A>G;ENST00000579494:exon4:c.256-2A>G)	.	.	0.999975706799895	0.944
18	624863	A	T	18	624863	y	y	splicing	CLUL1(NM_014410:exon4:c.256-2A>T;NM_001289036:exon6:c.412-2A>T;NM_199167:exon4:c.256-2A>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.256-2A>T;ENST00000540035:exon6:c.412-2A>T;ENST00000581619:exon4:c.331-2A>T;ENST00000338387:exon4:c.256-2A>T;ENST00000579494:exon4:c.256-2A>T)	.	.	0.999975706799895	0.94
18	624864	G	A	18	624864	y	y	splicing	CLUL1(NM_014410:exon4:c.256-1G>A;NM_001289036:exon6:c.412-1G>A;NM_199167:exon4:c.256-1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.256-1G>A;ENST00000540035:exon6:c.412-1G>A;ENST00000581619:exon4:c.331-1G>A;ENST00000338387:exon4:c.256-1G>A;ENST00000579494:exon4:c.256-1G>A)	.	.	0.999915710762489	0.934
18	624864	G	C	18	624864	y	y	splicing	CLUL1(NM_014410:exon4:c.256-1G>C;NM_001289036:exon6:c.412-1G>C;NM_199167:exon4:c.256-1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.256-1G>C;ENST00000540035:exon6:c.412-1G>C;ENST00000581619:exon4:c.331-1G>C;ENST00000338387:exon4:c.256-1G>C;ENST00000579494:exon4:c.256-1G>C)	.	.	0.999915710762489	0.938
18	624864	G	T	18	624864	y	y	splicing	CLUL1(NM_014410:exon4:c.256-1G>T;NM_001289036:exon6:c.412-1G>T;NM_199167:exon4:c.256-1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.256-1G>T;ENST00000540035:exon6:c.412-1G>T;ENST00000581619:exon4:c.331-1G>T;ENST00000338387:exon4:c.256-1G>T;ENST00000579494:exon4:c.256-1G>T)	.	.	0.999915710762489	0.938
18	624865	G	A	18	624865	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.G412A:p.E138K;CLUL1:NM_014410:exon4:c.G256A:p.E86K;CLUL1:NM_199167:exon4:c.G256A:p.E86K;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.G412A:p.E138K;ENSG00000079101:ENST00000581619:exon4:c.G331A:p.E111K;ENSG00000079101:ENST00000400606:exon4:c.G256A:p.E86K;ENSG00000079101:ENST00000579494:exon4:c.G256A:p.E86K;ENSG00000079101:ENST00000338387:exon4:c.G256A:p.E86K;	0.721473825568975	0.734
18	624865	G	C	18	624865	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.G412C:p.E138Q;CLUL1:NM_014410:exon4:c.G256C:p.E86Q;CLUL1:NM_199167:exon4:c.G256C:p.E86Q;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.G412C:p.E138Q;ENSG00000079101:ENST00000581619:exon4:c.G331C:p.E111Q;ENSG00000079101:ENST00000400606:exon4:c.G256C:p.E86Q;ENSG00000079101:ENST00000579494:exon4:c.G256C:p.E86Q;ENSG00000079101:ENST00000338387:exon4:c.G256C:p.E86Q;	0.997125377377931	0.876
18	624865	G	T	18	624865	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon6:c.G412T:p.E138X;CLUL1:NM_014410:exon4:c.G256T:p.E86X;CLUL1:NM_199167:exon4:c.G256T:p.E86X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon6:c.G412T:p.E138X;ENSG00000079101:ENST00000581619:exon4:c.G331T:p.E111X;ENSG00000079101:ENST00000400606:exon4:c.G256T:p.E86X;ENSG00000079101:ENST00000579494:exon4:c.G256T:p.E86X;ENSG00000079101:ENST00000338387:exon4:c.G256T:p.E86X;	0.999472520509814	0.936
18	624866	A	C	18	624866	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.A413C:p.E138A;CLUL1:NM_014410:exon4:c.A257C:p.E86A;CLUL1:NM_199167:exon4:c.A257C:p.E86A;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.A413C:p.E138A;ENSG00000079101:ENST00000581619:exon4:c.A332C:p.E111A;ENSG00000079101:ENST00000400606:exon4:c.A257C:p.E86A;ENSG00000079101:ENST00000579494:exon4:c.A257C:p.E86A;ENSG00000079101:ENST00000338387:exon4:c.A257C:p.E86A;	0.00673053353719177	0.124
18	624866	A	G	18	624866	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.A413G:p.E138G;CLUL1:NM_014410:exon4:c.A257G:p.E86G;CLUL1:NM_199167:exon4:c.A257G:p.E86G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.A413G:p.E138G;ENSG00000079101:ENST00000581619:exon4:c.A332G:p.E111G;ENSG00000079101:ENST00000400606:exon4:c.A257G:p.E86G;ENSG00000079101:ENST00000579494:exon4:c.A257G:p.E86G;ENSG00000079101:ENST00000338387:exon4:c.A257G:p.E86G;	0.00130888823784271	0.02
18	624866	A	T	18	624866	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.A413T:p.E138V;CLUL1:NM_014410:exon4:c.A257T:p.E86V;CLUL1:NM_199167:exon4:c.A257T:p.E86V;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.A413T:p.E138V;ENSG00000079101:ENST00000581619:exon4:c.A332T:p.E111V;ENSG00000079101:ENST00000400606:exon4:c.A257T:p.E86V;ENSG00000079101:ENST00000579494:exon4:c.A257T:p.E86V;ENSG00000079101:ENST00000338387:exon4:c.A257T:p.E86V;	0.0254057862612855	0.228
18	625030	A	C	18	625030	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.A577C:p.K193Q;CLUL1:NM_014410:exon4:c.A421C:p.K141Q;CLUL1:NM_199167:exon4:c.A421C:p.K141Q;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.A577C:p.K193Q;ENSG00000079101:ENST00000581619:exon4:c.A496C:p.K166Q;ENSG00000079101:ENST00000400606:exon4:c.A421C:p.K141Q;ENSG00000079101:ENST00000579494:exon4:c.A421C:p.K141Q;ENSG00000079101:ENST00000338387:exon4:c.A421C:p.K141Q;	1.82703778091886E-4	0.004
18	625030	A	G	18	625030	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.A577G:p.K193E;CLUL1:NM_014410:exon4:c.A421G:p.K141E;CLUL1:NM_199167:exon4:c.A421G:p.K141E;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.A577G:p.K193E;ENSG00000079101:ENST00000581619:exon4:c.A496G:p.K166E;ENSG00000079101:ENST00000400606:exon4:c.A421G:p.K141E;ENSG00000079101:ENST00000579494:exon4:c.A421G:p.K141E;ENSG00000079101:ENST00000338387:exon4:c.A421G:p.K141E;	5.87955785443587E-4	0.014
18	625030	A	T	18	625030	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon6:c.A577T:p.K193X;CLUL1:NM_014410:exon4:c.A421T:p.K141X;CLUL1:NM_199167:exon4:c.A421T:p.K141X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon6:c.A577T:p.K193X;ENSG00000079101:ENST00000581619:exon4:c.A496T:p.K166X;ENSG00000079101:ENST00000400606:exon4:c.A421T:p.K141X;ENSG00000079101:ENST00000579494:exon4:c.A421T:p.K141X;ENSG00000079101:ENST00000338387:exon4:c.A421T:p.K141X;	0.0585958766207114	0.258
18	625031	A	C	18	625031	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.A578C:p.K193T;CLUL1:NM_014410:exon4:c.A422C:p.K141T;CLUL1:NM_199167:exon4:c.A422C:p.K141T;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.A578C:p.K193T;ENSG00000079101:ENST00000581619:exon4:c.A497C:p.K166T;ENSG00000079101:ENST00000400606:exon4:c.A422C:p.K141T;ENSG00000079101:ENST00000579494:exon4:c.A422C:p.K141T;ENSG00000079101:ENST00000338387:exon4:c.A422C:p.K141T;	0.0432497857567136	0.384
18	625031	A	G	18	625031	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.A578G:p.K193R;CLUL1:NM_014410:exon4:c.A422G:p.K141R;CLUL1:NM_199167:exon4:c.A422G:p.K141R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.A578G:p.K193R;ENSG00000079101:ENST00000581619:exon4:c.A497G:p.K166R;ENSG00000079101:ENST00000400606:exon4:c.A422G:p.K141R;ENSG00000079101:ENST00000579494:exon4:c.A422G:p.K141R;ENSG00000079101:ENST00000338387:exon4:c.A422G:p.K141R;	0.0850748114239185	0.358
18	625031	A	T	18	625031	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.A578T:p.K193M;CLUL1:NM_014410:exon4:c.A422T:p.K141M;CLUL1:NM_199167:exon4:c.A422T:p.K141M;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.A578T:p.K193M;ENSG00000079101:ENST00000581619:exon4:c.A497T:p.K166M;ENSG00000079101:ENST00000400606:exon4:c.A422T:p.K141M;ENSG00000079101:ENST00000579494:exon4:c.A422T:p.K141M;ENSG00000079101:ENST00000338387:exon4:c.A422T:p.K141M;	0.0546513638967636	0.326
18	625032	G	A	18	625032	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon6:c.G579A:p.K193K;CLUL1:NM_014410:exon4:c.G423A:p.K141K;CLUL1:NM_199167:exon4:c.G423A:p.K141K;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.G579A:p.K193K;ENSG00000079101:ENST00000581619:exon4:c.G498A:p.K166K;ENSG00000079101:ENST00000400606:exon4:c.G423A:p.K141K;ENSG00000079101:ENST00000579494:exon4:c.G423A:p.K141K;ENSG00000079101:ENST00000338387:exon4:c.G423A:p.K141K;	0.758342505131715	0.788
18	625032	G	C	18	625032	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.G579C:p.K193N;CLUL1:NM_014410:exon4:c.G423C:p.K141N;CLUL1:NM_199167:exon4:c.G423C:p.K141N;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.G579C:p.K193N;ENSG00000079101:ENST00000581619:exon4:c.G498C:p.K166N;ENSG00000079101:ENST00000400606:exon4:c.G423C:p.K141N;ENSG00000079101:ENST00000579494:exon4:c.G423C:p.K141N;ENSG00000079101:ENST00000338387:exon4:c.G423C:p.K141N;	0.976287192323105	0.756
18	625032	G	T	18	625032	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon6:c.G579T:p.K193N;CLUL1:NM_014410:exon4:c.G423T:p.K141N;CLUL1:NM_199167:exon4:c.G423T:p.K141N;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon6:c.G579T:p.K193N;ENSG00000079101:ENST00000581619:exon4:c.G498T:p.K166N;ENSG00000079101:ENST00000400606:exon4:c.G423T:p.K141N;ENSG00000079101:ENST00000579494:exon4:c.G423T:p.K141N;ENSG00000079101:ENST00000338387:exon4:c.G423T:p.K141N;	0.967485821364046	0.844
18	625033	G	A	18	625033	y	y	splicing	CLUL1(NM_014410:exon4:c.423+1G>A;NM_001289036:exon6:c.579+1G>A;NM_199167:exon4:c.423+1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.423+1G>A;ENST00000540035:exon6:c.579+1G>A;ENST00000581619:exon4:c.498+1G>A;ENST00000338387:exon4:c.423+1G>A;ENST00000579494:exon4:c.423+1G>A)	.	.	0.999916487880886	0.95
18	625033	G	C	18	625033	y	y	splicing	CLUL1(NM_014410:exon4:c.423+1G>C;NM_001289036:exon6:c.579+1G>C;NM_199167:exon4:c.423+1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.423+1G>C;ENST00000540035:exon6:c.579+1G>C;ENST00000581619:exon4:c.498+1G>C;ENST00000338387:exon4:c.423+1G>C;ENST00000579494:exon4:c.423+1G>C)	.	.	0.999945520654368	0.942
18	625033	G	T	18	625033	y	y	splicing	CLUL1(NM_014410:exon4:c.423+1G>T;NM_001289036:exon6:c.579+1G>T;NM_199167:exon4:c.423+1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.423+1G>T;ENST00000540035:exon6:c.579+1G>T;ENST00000581619:exon4:c.498+1G>T;ENST00000338387:exon4:c.423+1G>T;ENST00000579494:exon4:c.423+1G>T)	.	.	0.999916487880886	0.944
18	625034	T	A	18	625034	y	y	splicing	CLUL1(NM_014410:exon4:c.423+2T>A;NM_001289036:exon6:c.579+2T>A;NM_199167:exon4:c.423+2T>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.423+2T>A;ENST00000540035:exon6:c.579+2T>A;ENST00000581619:exon4:c.498+2T>A;ENST00000338387:exon4:c.423+2T>A;ENST00000579494:exon4:c.423+2T>A)	.	.	0.999903621866699	0.862
18	625034	T	C	18	625034	y	y	splicing	CLUL1(NM_014410:exon4:c.423+2T>C;NM_001289036:exon6:c.579+2T>C;NM_199167:exon4:c.423+2T>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.423+2T>C;ENST00000540035:exon6:c.579+2T>C;ENST00000581619:exon4:c.498+2T>C;ENST00000338387:exon4:c.423+2T>C;ENST00000579494:exon4:c.423+2T>C)	.	.	0.914260475673533	0.56
18	625034	T	G	18	625034	y	y	splicing	CLUL1(NM_014410:exon4:c.423+2T>G;NM_001289036:exon6:c.579+2T>G;NM_199167:exon4:c.423+2T>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon4:c.423+2T>G;ENST00000540035:exon6:c.579+2T>G;ENST00000581619:exon4:c.498+2T>G;ENST00000338387:exon4:c.423+2T>G;ENST00000579494:exon4:c.423+2T>G)	.	.	0.999893588078984	0.88
18	625035	A	C	18	625035	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.961063841828009	0.648
18	625035	A	G	18	625035	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.146028314937046	0.242
18	625035	A	T	18	625035	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.989132729542498	0.71
18	625036	A	C	18	625036	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.35498916330688	0.516
18	625036	A	G	18	625036	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.561872088427177	0.456
18	625036	A	T	18	625036	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.325077902648575	0.542
18	625037	G	A	18	625037	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.629300195967193	0.606
18	625037	G	C	18	625037	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.683023871719014	0.548
18	625037	G	T	18	625037	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.718707294494301	0.578
18	625038	A	C	18	625038	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.41008393905674E-4	0.006
18	625038	A	G	18	625038	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.33456539529445E-5	0.0
18	625038	A	T	18	625038	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.90660253896992E-5	0.006
18	625039	G	A	18	625039	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.66426746904339E-5	0.0
18	625039	G	C	18	625039	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.66426746904339E-5	0.006
18	625039	G	T	18	625039	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.66426746904339E-5	0.0
18	625040	A	C	18	625040	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.33815804894828E-5	0.0
18	625040	A	G	18	625040	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.33815804894828E-5	0.0
18	625040	A	T	18	625040	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.36057955275112E-5	0.0
18	627085	T	A	18	627085	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0127570621239017	0.232
18	627085	T	C	18	627085	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.6683302300112E-5	0.002
18	627085	T	G	18	627085	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0204101831398251	0.208
18	627086	C	A	18	627086	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.2810609401318E-4	0.034
18	627086	C	G	18	627086	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.23994830951944E-4	0.012
18	627086	C	T	18	627086	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.66658480184942E-5	0.0
18	627087	T	A	18	627087	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00448651354584446	0.202
18	627087	T	C	18	627087	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.63022664106917E-5	0.0
18	627087	T	G	18	627087	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00289470596313925	0.188
18	627088	A	C	18	627088	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.33380880670026E-5	0.028
18	627088	A	G	18	627088	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.28670999854301E-5	0.014
18	627088	A	T	18	627088	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.00096701525018E-5	0.026
18	627089	C	A	18	627089	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.0236354787869E-5	0.12
18	627089	C	G	18	627089	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999109012935692	0.944
18	627089	C	T	18	627089	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.64527629608542E-5	0.04
18	627090	T	A	18	627090	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0424222487637304	0.246
18	627090	T	C	18	627090	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.14534674701562E-4	0.01
18	627090	T	G	18	627090	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0455321634732253	0.24
18	627091	C	A	18	627091	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00250326599282473	0.288
18	627091	C	G	18	627091	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00471347344473389	0.29
18	627091	C	T	18	627091	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.3063619695007E-5	0.108
18	627092	C	A	18	627092	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00211851679621493	0.142
18	627092	C	G	18	627092	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00157776458681943	0.14
18	627092	C	T	18	627092	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.17878009065437E-5	0.03
18	627093	A	C	18	627093	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.61410507055995E-5	0.0
18	627093	A	G	18	627093	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.62982710758705E-5	0.0
18	627093	A	T	18	627093	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.23502909099883E-5	0.002
18	627094	C	A	18	627094	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.983908583284527	0.684
18	627094	C	G	18	627094	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999533017778185	0.91
18	627094	C	T	18	627094	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00361372042198727	0.134
18	627095	A	C	18	627095	y	y	splicing	CLUL1(NM_014410:exon5:c.424-2A>C;NM_001289036:exon7:c.580-2A>C;NM_199167:exon5:c.424-2A>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon5:c.424-2A>C;ENST00000540035:exon7:c.580-2A>C;ENST00000581619:exon5:c.499-2A>C;ENST00000338387:exon5:c.424-2A>C;ENST00000579494:exon5:c.424-2A>C)	.	.	0.999989378869813	0.75
18	627095	A	G	18	627095	y	y	splicing	CLUL1(NM_014410:exon5:c.424-2A>G;NM_001289036:exon7:c.580-2A>G;NM_199167:exon5:c.424-2A>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon5:c.424-2A>G;ENST00000540035:exon7:c.580-2A>G;ENST00000581619:exon5:c.499-2A>G;ENST00000338387:exon5:c.424-2A>G;ENST00000579494:exon5:c.424-2A>G)	.	.	0.999989378869813	0.75
18	627095	A	T	18	627095	y	y	splicing	CLUL1(NM_014410:exon5:c.424-2A>T;NM_001289036:exon7:c.580-2A>T;NM_199167:exon5:c.424-2A>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon5:c.424-2A>T;ENST00000540035:exon7:c.580-2A>T;ENST00000581619:exon5:c.499-2A>T;ENST00000338387:exon5:c.424-2A>T;ENST00000579494:exon5:c.424-2A>T)	.	.	0.999984399620937	0.746
18	627096	G	A	18	627096	y	y	splicing	CLUL1(NM_014410:exon5:c.424-1G>A;NM_001289036:exon7:c.580-1G>A;NM_199167:exon5:c.424-1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon5:c.424-1G>A;ENST00000540035:exon7:c.580-1G>A;ENST00000581619:exon5:c.499-1G>A;ENST00000338387:exon5:c.424-1G>A;ENST00000579494:exon5:c.424-1G>A)	.	.	0.999975694284506	0.764
18	627096	G	C	18	627096	y	y	splicing	CLUL1(NM_014410:exon5:c.424-1G>C;NM_001289036:exon7:c.580-1G>C;NM_199167:exon5:c.424-1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon5:c.424-1G>C;ENST00000540035:exon7:c.580-1G>C;ENST00000581619:exon5:c.499-1G>C;ENST00000338387:exon5:c.424-1G>C;ENST00000579494:exon5:c.424-1G>C)	.	.	0.99998692511496	0.768
18	627096	G	T	18	627096	y	y	splicing	CLUL1(NM_014410:exon5:c.424-1G>T;NM_001289036:exon7:c.580-1G>T;NM_199167:exon5:c.424-1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon5:c.424-1G>T;ENST00000540035:exon7:c.580-1G>T;ENST00000581619:exon5:c.499-1G>T;ENST00000338387:exon5:c.424-1G>T;ENST00000579494:exon5:c.424-1G>T)	.	.	0.999980795553335	0.768
18	627097	A	C	18	627097	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon7:c.A580C:p.I194L;CLUL1:NM_014410:exon5:c.A424C:p.I142L;CLUL1:NM_199167:exon5:c.A424C:p.I142L;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon7:c.A580C:p.I194L;ENSG00000079101:ENST00000581619:exon5:c.A499C:p.I167L;ENSG00000079101:ENST00000400606:exon5:c.A424C:p.I142L;ENSG00000079101:ENST00000579494:exon5:c.A424C:p.I142L;ENSG00000079101:ENST00000338387:exon5:c.A424C:p.I142L;	6.93159301031553E-4	0.024
18	627097	A	G	18	627097	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon7:c.A580G:p.I194V;CLUL1:NM_014410:exon5:c.A424G:p.I142V;CLUL1:NM_199167:exon5:c.A424G:p.I142V;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon7:c.A580G:p.I194V;ENSG00000079101:ENST00000581619:exon5:c.A499G:p.I167V;ENSG00000079101:ENST00000400606:exon5:c.A424G:p.I142V;ENSG00000079101:ENST00000579494:exon5:c.A424G:p.I142V;ENSG00000079101:ENST00000338387:exon5:c.A424G:p.I142V;	2.56846099087748E-5	0.088
18	627097	A	T	18	627097	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon7:c.A580T:p.I194F;CLUL1:NM_014410:exon5:c.A424T:p.I142F;CLUL1:NM_199167:exon5:c.A424T:p.I142F;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon7:c.A580T:p.I194F;ENSG00000079101:ENST00000581619:exon5:c.A499T:p.I167F;ENSG00000079101:ENST00000400606:exon5:c.A424T:p.I142F;ENSG00000079101:ENST00000579494:exon5:c.A424T:p.I142F;ENSG00000079101:ENST00000338387:exon5:c.A424T:p.I142F;	0.00124199205386596	0.152
18	627098	T	A	18	627098	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon7:c.T581A:p.I194N;CLUL1:NM_014410:exon5:c.T425A:p.I142N;CLUL1:NM_199167:exon5:c.T425A:p.I142N;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon7:c.T581A:p.I194N;ENSG00000079101:ENST00000581619:exon5:c.T500A:p.I167N;ENSG00000079101:ENST00000400606:exon5:c.T425A:p.I142N;ENSG00000079101:ENST00000579494:exon5:c.T425A:p.I142N;ENSG00000079101:ENST00000338387:exon5:c.T425A:p.I142N;	8.69278752215822E-4	0.016
18	627098	T	C	18	627098	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon7:c.T581C:p.I194T;CLUL1:NM_014410:exon5:c.T425C:p.I142T;CLUL1:NM_199167:exon5:c.T425C:p.I142T;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon7:c.T581C:p.I194T;ENSG00000079101:ENST00000581619:exon5:c.T500C:p.I167T;ENSG00000079101:ENST00000400606:exon5:c.T425C:p.I142T;ENSG00000079101:ENST00000579494:exon5:c.T425C:p.I142T;ENSG00000079101:ENST00000338387:exon5:c.T425C:p.I142T;	5.81838532239157E-4	0.052
18	627098	T	G	18	627098	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon7:c.T581G:p.I194S;CLUL1:NM_014410:exon5:c.T425G:p.I142S;CLUL1:NM_199167:exon5:c.T425G:p.I142S;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon7:c.T581G:p.I194S;ENSG00000079101:ENST00000581619:exon5:c.T500G:p.I167S;ENSG00000079101:ENST00000400606:exon5:c.T425G:p.I142S;ENSG00000079101:ENST00000579494:exon5:c.T425G:p.I142S;ENSG00000079101:ENST00000338387:exon5:c.T425G:p.I142S;	0.00126406955426403	0.012
18	633286	T	A	18	633286	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.997521228412258	0.866
18	633286	T	C	18	633286	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.3428787079959E-4	0.02
18	633286	T	G	18	633286	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.997132480090495	0.878
18	633287	G	A	18	633287	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.86188246746642E-4	0.032
18	633287	G	C	18	633287	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.79973310716145E-6	0.0
18	633287	G	T	18	633287	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.67944982512943E-5	0.0
18	633288	T	A	18	633288	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.205550572340142	0.53
18	633288	T	C	18	633288	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00155558033599392	0.124
18	633288	T	G	18	633288	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0784680719161784	0.462
18	633289	T	A	18	633289	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.191429327809478	0.538
18	633289	T	C	18	633289	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00435183598684596	0.092
18	633289	T	G	18	633289	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0369486396113232	0.44
18	633290	C	A	18	633290	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0017263747024678	0.078
18	633290	C	G	18	633290	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.87437630127712E-4	0.026
18	633290	C	T	18	633290	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.35699778405313E-5	0.004
18	633291	C	A	18	633291	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.94767525659601E-4	0.034
18	633291	C	G	18	633291	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00272380679794949	0.076
18	633291	C	T	18	633291	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.41277469051783E-5	0.002
18	633292	C	A	18	633292	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.09994242491075E-4	0.16
18	633292	C	G	18	633292	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.08560333735356E-4	0.148
18	633292	C	T	18	633292	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.25813053537716E-5	0.0
18	633293	T	A	18	633293	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999793077975284	0.952
18	633293	T	C	18	633293	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.15330895801392E-5	0.01
18	633293	T	G	18	633293	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.176276849046791	0.424
18	633294	G	A	18	633294	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.72445942908771E-5	0.008
18	633294	G	C	18	633294	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.19783978693055E-5	0.006
18	633294	G	T	18	633294	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.27730951918887E-4	0.01
18	633295	T	A	18	633295	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0232226516708164	0.362
18	633295	T	C	18	633295	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	5.09073047697215E-5	0.002
18	633295	T	G	18	633295	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.977661413076774	0.664
18	633296	A	C	18	633296	y	y	splicing	CLUL1(NM_014410:exon6:c.857-2A>C;NM_001289036:exon8:c.1013-2A>C;NM_199167:exon6:c.857-2A>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.857-2A>C;ENST00000540035:exon8:c.1013-2A>C;ENST00000581619:exon6:c.932-2A>C;ENST00000338387:exon6:c.857-2A>C;ENST00000579494:exon6:c.857-2A>C)	.	.	0.999966514958823	0.956
18	633296	A	G	18	633296	y	y	splicing	CLUL1(NM_014410:exon6:c.857-2A>G;NM_001289036:exon8:c.1013-2A>G;NM_199167:exon6:c.857-2A>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.857-2A>G;ENST00000540035:exon8:c.1013-2A>G;ENST00000581619:exon6:c.932-2A>G;ENST00000338387:exon6:c.857-2A>G;ENST00000579494:exon6:c.857-2A>G)	.	.	0.999966514958823	0.956
18	633296	A	T	18	633296	y	y	splicing	CLUL1(NM_014410:exon6:c.857-2A>T;NM_001289036:exon8:c.1013-2A>T;NM_199167:exon6:c.857-2A>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.857-2A>T;ENST00000540035:exon8:c.1013-2A>T;ENST00000581619:exon6:c.932-2A>T;ENST00000338387:exon6:c.857-2A>T;ENST00000579494:exon6:c.857-2A>T)	.	.	0.999966514958823	0.958
18	633297	G	A	18	633297	y	y	splicing	CLUL1(NM_014410:exon6:c.857-1G>A;NM_001289036:exon8:c.1013-1G>A;NM_199167:exon6:c.857-1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.857-1G>A;ENST00000540035:exon8:c.1013-1G>A;ENST00000581619:exon6:c.932-1G>A;ENST00000338387:exon6:c.857-1G>A;ENST00000579494:exon6:c.857-1G>A)	.	.	0.999916487880886	0.962
18	633297	G	C	18	633297	y	y	splicing	CLUL1(NM_014410:exon6:c.857-1G>C;NM_001289036:exon8:c.1013-1G>C;NM_199167:exon6:c.857-1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.857-1G>C;ENST00000540035:exon8:c.1013-1G>C;ENST00000581619:exon6:c.932-1G>C;ENST00000338387:exon6:c.857-1G>C;ENST00000579494:exon6:c.857-1G>C)	.	.	0.999916487880886	0.96
18	633297	G	T	18	633297	y	y	splicing	CLUL1(NM_014410:exon6:c.857-1G>T;NM_001289036:exon8:c.1013-1G>T;NM_199167:exon6:c.857-1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.857-1G>T;ENST00000540035:exon8:c.1013-1G>T;ENST00000581619:exon6:c.932-1G>T;ENST00000338387:exon6:c.857-1G>T;ENST00000579494:exon6:c.857-1G>T)	.	.	0.999916487880886	0.96
18	633298	C	A	18	633298	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.C1013A:p.A338D;CLUL1:NM_014410:exon6:c.C857A:p.A286D;CLUL1:NM_199167:exon6:c.C857A:p.A286D;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.C1013A:p.A338D;ENSG00000079101:ENST00000581619:exon6:c.C932A:p.A311D;ENSG00000079101:ENST00000400606:exon6:c.C857A:p.A286D;ENSG00000079101:ENST00000579494:exon6:c.C857A:p.A286D;ENSG00000079101:ENST00000338387:exon6:c.C857A:p.A286D;	2.06481237244302E-5	0.0
18	633298	C	G	18	633298	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.C1013G:p.A338G;CLUL1:NM_014410:exon6:c.C857G:p.A286G;CLUL1:NM_199167:exon6:c.C857G:p.A286G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.C1013G:p.A338G;ENSG00000079101:ENST00000581619:exon6:c.C932G:p.A311G;ENSG00000079101:ENST00000400606:exon6:c.C857G:p.A286G;ENSG00000079101:ENST00000579494:exon6:c.C857G:p.A286G;ENSG00000079101:ENST00000338387:exon6:c.C857G:p.A286G;	3.55374220113367E-5	0.096
18	633298	C	T	18	633298	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.C1013T:p.A338V;CLUL1:NM_014410:exon6:c.C857T:p.A286V;CLUL1:NM_199167:exon6:c.C857T:p.A286V;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.C1013T:p.A338V;ENSG00000079101:ENST00000581619:exon6:c.C932T:p.A311V;ENSG00000079101:ENST00000400606:exon6:c.C857T:p.A286V;ENSG00000079101:ENST00000579494:exon6:c.C857T:p.A286V;ENSG00000079101:ENST00000338387:exon6:c.C857T:p.A286V;	2.42698340248105E-4	0.142
18	633299	T	A	18	633299	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon8:c.T1014A:p.A338A;CLUL1:NM_014410:exon6:c.T858A:p.A286A;CLUL1:NM_199167:exon6:c.T858A:p.A286A;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.T1014A:p.A338A;ENSG00000079101:ENST00000581619:exon6:c.T933A:p.A311A;ENSG00000079101:ENST00000400606:exon6:c.T858A:p.A286A;ENSG00000079101:ENST00000579494:exon6:c.T858A:p.A286A;ENSG00000079101:ENST00000338387:exon6:c.T858A:p.A286A;	6.57354355412661E-4	0.032
18	633299	T	C	18	633299	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon8:c.T1014C:p.A338A;CLUL1:NM_014410:exon6:c.T858C:p.A286A;CLUL1:NM_199167:exon6:c.T858C:p.A286A;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.T1014C:p.A338A;ENSG00000079101:ENST00000581619:exon6:c.T933C:p.A311A;ENSG00000079101:ENST00000400606:exon6:c.T858C:p.A286A;ENSG00000079101:ENST00000579494:exon6:c.T858C:p.A286A;ENSG00000079101:ENST00000338387:exon6:c.T858C:p.A286A;	2.74847788341872E-4	0.034
18	633299	T	G	18	633299	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon8:c.T1014G:p.A338A;CLUL1:NM_014410:exon6:c.T858G:p.A286A;CLUL1:NM_199167:exon6:c.T858G:p.A286A;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.T1014G:p.A338A;ENSG00000079101:ENST00000581619:exon6:c.T933G:p.A311A;ENSG00000079101:ENST00000400606:exon6:c.T858G:p.A286A;ENSG00000079101:ENST00000579494:exon6:c.T858G:p.A286A;ENSG00000079101:ENST00000338387:exon6:c.T858G:p.A286A;	5.22805253529713E-4	0.036
18	633433	A	C	18	633433	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.A1148C:p.E383A;CLUL1:NM_014410:exon6:c.A992C:p.E331A;CLUL1:NM_199167:exon6:c.A992C:p.E331A;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.A1148C:p.E383A;ENSG00000079101:ENST00000581619:exon6:c.A1067C:p.E356A;ENSG00000079101:ENST00000400606:exon6:c.A992C:p.E331A;ENSG00000079101:ENST00000579494:exon6:c.A992C:p.E331A;ENSG00000079101:ENST00000338387:exon6:c.A992C:p.E331A;	2.4097798460229E-5	0.0
18	633433	A	G	18	633433	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.A1148G:p.E383G;CLUL1:NM_014410:exon6:c.A992G:p.E331G;CLUL1:NM_199167:exon6:c.A992G:p.E331G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.A1148G:p.E383G;ENSG00000079101:ENST00000581619:exon6:c.A1067G:p.E356G;ENSG00000079101:ENST00000400606:exon6:c.A992G:p.E331G;ENSG00000079101:ENST00000579494:exon6:c.A992G:p.E331G;ENSG00000079101:ENST00000338387:exon6:c.A992G:p.E331G;	3.78137855815182E-4	0.01
18	633433	A	T	18	633433	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.A1148T:p.E383V;CLUL1:NM_014410:exon6:c.A992T:p.E331V;CLUL1:NM_199167:exon6:c.A992T:p.E331V;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.A1148T:p.E383V;ENSG00000079101:ENST00000581619:exon6:c.A1067T:p.E356V;ENSG00000079101:ENST00000400606:exon6:c.A992T:p.E331V;ENSG00000079101:ENST00000579494:exon6:c.A992T:p.E331V;ENSG00000079101:ENST00000338387:exon6:c.A992T:p.E331V;	0.00942634631495119	0.316
18	633434	A	C	18	633434	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.A1149C:p.E383D;CLUL1:NM_014410:exon6:c.A993C:p.E331D;CLUL1:NM_199167:exon6:c.A993C:p.E331D;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.A1149C:p.E383D;ENSG00000079101:ENST00000581619:exon6:c.A1068C:p.E356D;ENSG00000079101:ENST00000400606:exon6:c.A993C:p.E331D;ENSG00000079101:ENST00000579494:exon6:c.A993C:p.E331D;ENSG00000079101:ENST00000338387:exon6:c.A993C:p.E331D;	0.0789550284207577	0.384
18	633434	A	G	18	633434	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon8:c.A1149G:p.E383E;CLUL1:NM_014410:exon6:c.A993G:p.E331E;CLUL1:NM_199167:exon6:c.A993G:p.E331E;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.A1149G:p.E383E;ENSG00000079101:ENST00000581619:exon6:c.A1068G:p.E356E;ENSG00000079101:ENST00000400606:exon6:c.A993G:p.E331E;ENSG00000079101:ENST00000579494:exon6:c.A993G:p.E331E;ENSG00000079101:ENST00000338387:exon6:c.A993G:p.E331E;	0.555182030105153	0.518
18	633434	A	T	18	633434	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.A1149T:p.E383D;CLUL1:NM_014410:exon6:c.A993T:p.E331D;CLUL1:NM_199167:exon6:c.A993T:p.E331D;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.A1149T:p.E383D;ENSG00000079101:ENST00000581619:exon6:c.A1068T:p.E356D;ENSG00000079101:ENST00000400606:exon6:c.A993T:p.E331D;ENSG00000079101:ENST00000579494:exon6:c.A993T:p.E331D;ENSG00000079101:ENST00000338387:exon6:c.A993T:p.E331D;	0.609415467820547	0.576
18	633435	G	A	18	633435	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.G1150A:p.D384N;CLUL1:NM_014410:exon6:c.G994A:p.D332N;CLUL1:NM_199167:exon6:c.G994A:p.D332N;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.G1150A:p.D384N;ENSG00000079101:ENST00000581619:exon6:c.G1069A:p.D357N;ENSG00000079101:ENST00000400606:exon6:c.G994A:p.D332N;ENSG00000079101:ENST00000579494:exon6:c.G994A:p.D332N;ENSG00000079101:ENST00000338387:exon6:c.G994A:p.D332N;	0.999702618449009	0.968
18	633435	G	C	18	633435	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.G1150C:p.D384H;CLUL1:NM_014410:exon6:c.G994C:p.D332H;CLUL1:NM_199167:exon6:c.G994C:p.D332H;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.G1150C:p.D384H;ENSG00000079101:ENST00000581619:exon6:c.G1069C:p.D357H;ENSG00000079101:ENST00000400606:exon6:c.G994C:p.D332H;ENSG00000079101:ENST00000579494:exon6:c.G994C:p.D332H;ENSG00000079101:ENST00000338387:exon6:c.G994C:p.D332H;	0.999990591131691	0.962
18	633435	G	T	18	633435	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon8:c.G1150T:p.D384Y;CLUL1:NM_014410:exon6:c.G994T:p.D332Y;CLUL1:NM_199167:exon6:c.G994T:p.D332Y;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon8:c.G1150T:p.D384Y;ENSG00000079101:ENST00000581619:exon6:c.G1069T:p.D357Y;ENSG00000079101:ENST00000400606:exon6:c.G994T:p.D332Y;ENSG00000079101:ENST00000579494:exon6:c.G994T:p.D332Y;ENSG00000079101:ENST00000338387:exon6:c.G994T:p.D332Y;	0.999430447718289	0.938
18	633436	G	A	18	633436	y	y	splicing	CLUL1(NM_014410:exon6:c.994+1G>A;NM_001289036:exon8:c.1150+1G>A;NM_199167:exon6:c.994+1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.994+1G>A;ENST00000540035:exon8:c.1150+1G>A;ENST00000581619:exon6:c.1069+1G>A;ENST00000338387:exon6:c.994+1G>A;ENST00000579494:exon6:c.994+1G>A)	.	.	0.999916487880886	0.948
18	633436	G	C	18	633436	y	y	splicing	CLUL1(NM_014410:exon6:c.994+1G>C;NM_001289036:exon8:c.1150+1G>C;NM_199167:exon6:c.994+1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.994+1G>C;ENST00000540035:exon8:c.1150+1G>C;ENST00000581619:exon6:c.1069+1G>C;ENST00000338387:exon6:c.994+1G>C;ENST00000579494:exon6:c.994+1G>C)	.	.	0.999916487880886	0.942
18	633436	G	T	18	633436	y	y	splicing	CLUL1(NM_014410:exon6:c.994+1G>T;NM_001289036:exon8:c.1150+1G>T;NM_199167:exon6:c.994+1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.994+1G>T;ENST00000540035:exon8:c.1150+1G>T;ENST00000581619:exon6:c.1069+1G>T;ENST00000338387:exon6:c.994+1G>T;ENST00000579494:exon6:c.994+1G>T)	.	.	0.999916487880886	0.942
18	633437	T	A	18	633437	y	y	splicing	CLUL1(NM_014410:exon6:c.994+2T>A;NM_001289036:exon8:c.1150+2T>A;NM_199167:exon6:c.994+2T>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.994+2T>A;ENST00000540035:exon8:c.1150+2T>A;ENST00000581619:exon6:c.1069+2T>A;ENST00000338387:exon6:c.994+2T>A;ENST00000579494:exon6:c.994+2T>A)	.	.	0.999982151912279	0.892
18	633437	T	C	18	633437	y	y	splicing	CLUL1(NM_014410:exon6:c.994+2T>C;NM_001289036:exon8:c.1150+2T>C;NM_199167:exon6:c.994+2T>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.994+2T>C;ENST00000540035:exon8:c.1150+2T>C;ENST00000581619:exon6:c.1069+2T>C;ENST00000338387:exon6:c.994+2T>C;ENST00000579494:exon6:c.994+2T>C)	.	.	0.97563265876445	0.586
18	633437	T	G	18	633437	y	y	splicing	CLUL1(NM_014410:exon6:c.994+2T>G;NM_001289036:exon8:c.1150+2T>G;NM_199167:exon6:c.994+2T>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon6:c.994+2T>G;ENST00000540035:exon8:c.1150+2T>G;ENST00000581619:exon6:c.1069+2T>G;ENST00000338387:exon6:c.994+2T>G;ENST00000579494:exon6:c.994+2T>G)	.	.	0.999982151912279	0.886
18	633438	A	C	18	633438	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.998712078910051	0.864
18	633438	A	G	18	633438	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.882860415486291	0.526
18	633438	A	T	18	633438	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.999572102908512	0.764
18	633439	A	C	18	633439	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.336219820979458	0.404
18	633439	A	G	18	633439	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.243233832393573	0.406
18	633439	A	T	18	633439	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.300049721868299	0.41
18	633440	A	C	18	633440	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.37474136768176E-4	0.02
18	633440	A	G	18	633440	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.19658547701614E-5	0.008
18	633440	A	T	18	633440	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.67681374848396E-5	0.006
18	633441	T	A	18	633441	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0544454279987634	0.31
18	633441	T	C	18	633441	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.0236587830846633	0.338
18	633441	T	G	18	633441	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.05872169669215E-4	0.286
18	633442	A	C	18	633442	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.57835743868844E-5	0.02
18	633442	A	G	18	633442	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	7.72326245770715E-5	0.018
18	633442	A	T	18	633442	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.97479714752878E-4	0.024
18	633443	A	C	18	633443	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.77993525610891E-5	0.0
18	633443	A	G	18	633443	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.65379162702593E-5	0.0
18	633443	A	T	18	633443	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	9.4604546866702E-5	0.0
18	641315	C	A	18	641315	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	3.28598226128883E-4	0.044
18	641315	C	G	18	641315	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.78352268290406E-5	0.012
18	641315	C	T	18	641315	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.66576784750739E-5	0.0
18	641316	T	A	18	641316	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00158589802861226	0.148
18	641316	T	C	18	641316	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.20873186901299E-5	0.084
18	641316	T	G	18	641316	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.12828983039975E-4	0.186
18	641317	T	A	18	641317	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	6.93634251585767E-4	0.276
18	641317	T	C	18	641317	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.37066018533044E-4	0.054
18	641317	T	G	18	641317	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00506750598456665	0.246
18	641318	C	A	18	641318	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	1.87069122831027E-4	0.018
18	641318	C	G	18	641318	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	8.70611214009901E-5	0.032
18	641318	C	T	18	641318	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	2.90899251048623E-5	0.0
18	641319	T	A	18	641319	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00501880013811589	0.178
18	641319	T	C	18	641319	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	4.01555853211163E-4	0.028
18	641319	T	G	18	641319	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101	.	.	0.00279806002832293	0.174
18	641320	C	A	18	641320	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	7.49366673874484E-5	0.018
18	641320	C	G	18	641320	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	9.84573465430265E-5	0.014
18	641320	C	T	18	641320	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	3.49888219548957E-5	0.0
18	641321	T	A	18	641321	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	0.999907002029401	0.954
18	641321	T	C	18	641321	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	6.8343818948636E-5	0.0
18	641321	T	G	18	641321	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	0.00373916764137748	0.122
18	641322	G	A	18	641322	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	8.48589734751472E-5	0.0
18	641322	G	C	18	641322	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	6.13049410603903E-5	0.0
18	641322	G	T	18	641322	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	1.76531794119185E-4	0.13
18	641323	C	A	18	641323	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	1.51282644075956E-4	0.002
18	641323	C	G	18	641323	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	1.78702290207401E-4	0.004
18	641323	C	T	18	641323	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	8.13385666492658E-5	0.018
18	641324	T	A	18	641324	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	0.22719582797031	0.328
18	641324	T	C	18	641324	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	2.77976948859594E-4	0.02
18	641324	T	G	18	641324	y	y	intronic	CLUL1	.	.	UTR3	ENSG00000176912	.	.	0.89027309386765	0.644
18	641325	A	C	18	641325	y	y	splicing	CLUL1(NM_014410:exon7:c.995-2A>C;NM_001289036:exon9:c.1151-2A>C;NM_199167:exon7:c.995-2A>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.995-2A>C;ENST00000540035:exon9:c.1151-2A>C;ENST00000581619:exon7:c.1070-2A>C;ENST00000338387:exon7:c.995-2A>C;ENST00000579494:exon7:c.995-2A>C)	.	.	0.999972155025474	0.844
18	641325	A	G	18	641325	y	y	splicing	CLUL1(NM_014410:exon7:c.995-2A>G;NM_001289036:exon9:c.1151-2A>G;NM_199167:exon7:c.995-2A>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.995-2A>G;ENST00000540035:exon9:c.1151-2A>G;ENST00000581619:exon7:c.1070-2A>G;ENST00000338387:exon7:c.995-2A>G;ENST00000579494:exon7:c.995-2A>G)	.	.	0.999972155025474	0.85
18	641325	A	T	18	641325	y	y	splicing	CLUL1(NM_014410:exon7:c.995-2A>T;NM_001289036:exon9:c.1151-2A>T;NM_199167:exon7:c.995-2A>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.995-2A>T;ENST00000540035:exon9:c.1151-2A>T;ENST00000581619:exon7:c.1070-2A>T;ENST00000338387:exon7:c.995-2A>T;ENST00000579494:exon7:c.995-2A>T)	.	.	0.999971317418422	0.89
18	641326	G	A	18	641326	y	y	splicing	CLUL1(NM_014410:exon7:c.995-1G>A;NM_001289036:exon9:c.1151-1G>A;NM_199167:exon7:c.995-1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.995-1G>A;ENST00000540035:exon9:c.1151-1G>A;ENST00000581619:exon7:c.1070-1G>A;ENST00000338387:exon7:c.995-1G>A;ENST00000579494:exon7:c.995-1G>A)	.	.	0.99996748057446	0.906
18	641326	G	C	18	641326	y	y	splicing	CLUL1(NM_014410:exon7:c.995-1G>C;NM_001289036:exon9:c.1151-1G>C;NM_199167:exon7:c.995-1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.995-1G>C;ENST00000540035:exon9:c.1151-1G>C;ENST00000581619:exon7:c.1070-1G>C;ENST00000338387:exon7:c.995-1G>C;ENST00000579494:exon7:c.995-1G>C)	.	.	0.999969242257053	0.894
18	641326	G	T	18	641326	y	y	splicing	CLUL1(NM_014410:exon7:c.995-1G>T;NM_001289036:exon9:c.1151-1G>T;NM_199167:exon7:c.995-1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.995-1G>T;ENST00000540035:exon9:c.1151-1G>T;ENST00000581619:exon7:c.1070-1G>T;ENST00000338387:exon7:c.995-1G>T;ENST00000579494:exon7:c.995-1G>T)	.	.	0.99996748057446	0.906
18	641327	A	C	18	641327	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.A1151C:p.D384A;CLUL1:NM_014410:exon7:c.A995C:p.D332A;CLUL1:NM_199167:exon7:c.A995C:p.D332A;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.A1151C:p.D384A;ENSG00000079101:ENST00000581619:exon7:c.A1070C:p.D357A;ENSG00000079101:ENST00000400606:exon7:c.A995C:p.D332A;ENSG00000079101:ENST00000579494:exon7:c.A995C:p.D332A;ENSG00000079101:ENST00000338387:exon7:c.A995C:p.D332A;	2.71126668741831E-4	0.084
18	641327	A	G	18	641327	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.A1151G:p.D384G;CLUL1:NM_014410:exon7:c.A995G:p.D332G;CLUL1:NM_199167:exon7:c.A995G:p.D332G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.A1151G:p.D384G;ENSG00000079101:ENST00000581619:exon7:c.A1070G:p.D357G;ENSG00000079101:ENST00000400606:exon7:c.A995G:p.D332G;ENSG00000079101:ENST00000579494:exon7:c.A995G:p.D332G;ENSG00000079101:ENST00000338387:exon7:c.A995G:p.D332G;	1.60674615179E-4	0.058
18	641327	A	T	18	641327	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.A1151T:p.D384V;CLUL1:NM_014410:exon7:c.A995T:p.D332V;CLUL1:NM_199167:exon7:c.A995T:p.D332V;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.A1151T:p.D384V;ENSG00000079101:ENST00000581619:exon7:c.A1070T:p.D357V;ENSG00000079101:ENST00000400606:exon7:c.A995T:p.D332V;ENSG00000079101:ENST00000579494:exon7:c.A995T:p.D332V;ENSG00000079101:ENST00000338387:exon7:c.A995T:p.D332V;	8.97245455649407E-4	0.02
18	641328	C	A	18	641328	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.C1152A:p.D384E;CLUL1:NM_014410:exon7:c.C996A:p.D332E;CLUL1:NM_199167:exon7:c.C996A:p.D332E;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.C1152A:p.D384E;ENSG00000079101:ENST00000581619:exon7:c.C1071A:p.D357E;ENSG00000079101:ENST00000400606:exon7:c.C996A:p.D332E;ENSG00000079101:ENST00000579494:exon7:c.C996A:p.D332E;ENSG00000079101:ENST00000338387:exon7:c.C996A:p.D332E;	4.85601700588369E-5	0.008
18	641328	C	G	18	641328	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.C1152G:p.D384E;CLUL1:NM_014410:exon7:c.C996G:p.D332E;CLUL1:NM_199167:exon7:c.C996G:p.D332E;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.C1152G:p.D384E;ENSG00000079101:ENST00000581619:exon7:c.C1071G:p.D357E;ENSG00000079101:ENST00000400606:exon7:c.C996G:p.D332E;ENSG00000079101:ENST00000579494:exon7:c.C996G:p.D332E;ENSG00000079101:ENST00000338387:exon7:c.C996G:p.D332E;	2.80630338249844E-5	0.018
18	641328	C	T	18	641328	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon9:c.C1152T:p.D384D;CLUL1:NM_014410:exon7:c.C996T:p.D332D;CLUL1:NM_199167:exon7:c.C996T:p.D332D;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.C1152T:p.D384D;ENSG00000079101:ENST00000581619:exon7:c.C1071T:p.D357D;ENSG00000079101:ENST00000400606:exon7:c.C996T:p.D332D;ENSG00000079101:ENST00000579494:exon7:c.C996T:p.D332D;ENSG00000079101:ENST00000338387:exon7:c.C996T:p.D332D;	3.55495426733746E-5	0.006
18	641539	C	A	18	641539	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.C1363A:p.Q455K;CLUL1:NM_014410:exon7:c.C1207A:p.Q403K;CLUL1:NM_199167:exon7:c.C1207A:p.Q403K;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.C1363A:p.Q455K;ENSG00000079101:ENST00000581619:exon7:c.C1282A:p.Q428K;ENSG00000079101:ENST00000400606:exon7:c.C1207A:p.Q403K;ENSG00000079101:ENST00000579494:exon7:c.C1207A:p.Q403K;ENSG00000079101:ENST00000338387:exon7:c.C1207A:p.Q403K;	7.06818956270196E-5	0.018
18	641539	C	G	18	641539	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.C1363G:p.Q455E;CLUL1:NM_014410:exon7:c.C1207G:p.Q403E;CLUL1:NM_199167:exon7:c.C1207G:p.Q403E;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.C1363G:p.Q455E;ENSG00000079101:ENST00000581619:exon7:c.C1282G:p.Q428E;ENSG00000079101:ENST00000400606:exon7:c.C1207G:p.Q403E;ENSG00000079101:ENST00000579494:exon7:c.C1207G:p.Q403E;ENSG00000079101:ENST00000338387:exon7:c.C1207G:p.Q403E;	1.56110542544718E-4	0.006
18	641539	C	T	18	641539	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon9:c.C1363T:p.Q455X;CLUL1:NM_014410:exon7:c.C1207T:p.Q403X;CLUL1:NM_199167:exon7:c.C1207T:p.Q403X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon9:c.C1363T:p.Q455X;ENSG00000079101:ENST00000581619:exon7:c.C1282T:p.Q428X;ENSG00000079101:ENST00000400606:exon7:c.C1207T:p.Q403X;ENSG00000079101:ENST00000579494:exon7:c.C1207T:p.Q403X;ENSG00000079101:ENST00000338387:exon7:c.C1207T:p.Q403X;	0.341405115146373	0.368
18	641540	A	C	18	641540	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.A1364C:p.Q455P;CLUL1:NM_014410:exon7:c.A1208C:p.Q403P;CLUL1:NM_199167:exon7:c.A1208C:p.Q403P;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.A1364C:p.Q455P;ENSG00000079101:ENST00000581619:exon7:c.A1283C:p.Q428P;ENSG00000079101:ENST00000400606:exon7:c.A1208C:p.Q403P;ENSG00000079101:ENST00000579494:exon7:c.A1208C:p.Q403P;ENSG00000079101:ENST00000338387:exon7:c.A1208C:p.Q403P;	0.492350167946146	0.602
18	641540	A	G	18	641540	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.A1364G:p.Q455R;CLUL1:NM_014410:exon7:c.A1208G:p.Q403R;CLUL1:NM_199167:exon7:c.A1208G:p.Q403R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.A1364G:p.Q455R;ENSG00000079101:ENST00000581619:exon7:c.A1283G:p.Q428R;ENSG00000079101:ENST00000400606:exon7:c.A1208G:p.Q403R;ENSG00000079101:ENST00000579494:exon7:c.A1208G:p.Q403R;ENSG00000079101:ENST00000338387:exon7:c.A1208G:p.Q403R;	0.769919855155169	0.636
18	641540	A	T	18	641540	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.A1364T:p.Q455L;CLUL1:NM_014410:exon7:c.A1208T:p.Q403L;CLUL1:NM_199167:exon7:c.A1208T:p.Q403L;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.A1364T:p.Q455L;ENSG00000079101:ENST00000581619:exon7:c.A1283T:p.Q428L;ENSG00000079101:ENST00000400606:exon7:c.A1208T:p.Q403L;ENSG00000079101:ENST00000579494:exon7:c.A1208T:p.Q403L;ENSG00000079101:ENST00000338387:exon7:c.A1208T:p.Q403L;	0.945853985242813	0.688
18	641541	G	A	18	641541	y	y	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon9:c.G1365A:p.Q455Q;CLUL1:NM_014410:exon7:c.G1209A:p.Q403Q;CLUL1:NM_199167:exon7:c.G1209A:p.Q403Q;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.G1365A:p.Q455Q;ENSG00000079101:ENST00000581619:exon7:c.G1284A:p.Q428Q;ENSG00000079101:ENST00000400606:exon7:c.G1209A:p.Q403Q;ENSG00000079101:ENST00000579494:exon7:c.G1209A:p.Q403Q;ENSG00000079101:ENST00000338387:exon7:c.G1209A:p.Q403Q;	0.999780441256815	0.974
18	641541	G	C	18	641541	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.G1365C:p.Q455H;CLUL1:NM_014410:exon7:c.G1209C:p.Q403H;CLUL1:NM_199167:exon7:c.G1209C:p.Q403H;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.G1365C:p.Q455H;ENSG00000079101:ENST00000581619:exon7:c.G1284C:p.Q428H;ENSG00000079101:ENST00000400606:exon7:c.G1209C:p.Q403H;ENSG00000079101:ENST00000579494:exon7:c.G1209C:p.Q403H;ENSG00000079101:ENST00000338387:exon7:c.G1209C:p.Q403H;	0.999991011488997	0.98
18	641541	G	T	18	641541	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon9:c.G1365T:p.Q455H;CLUL1:NM_014410:exon7:c.G1209T:p.Q403H;CLUL1:NM_199167:exon7:c.G1209T:p.Q403H;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon9:c.G1365T:p.Q455H;ENSG00000079101:ENST00000581619:exon7:c.G1284T:p.Q428H;ENSG00000079101:ENST00000400606:exon7:c.G1209T:p.Q403H;ENSG00000079101:ENST00000579494:exon7:c.G1209T:p.Q403H;ENSG00000079101:ENST00000338387:exon7:c.G1209T:p.Q403H;	0.999954040663488	0.974
18	641542	G	A	18	641542	y	y	splicing	CLUL1(NM_014410:exon7:c.1209+1G>A;NM_001289036:exon9:c.1365+1G>A;NM_199167:exon7:c.1209+1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.1209+1G>A;ENST00000540035:exon9:c.1365+1G>A;ENST00000581619:exon7:c.1284+1G>A;ENST00000338387:exon7:c.1209+1G>A;ENST00000579494:exon7:c.1209+1G>A;ENST00000585155:exon1:c.70+1G>A)	.	.	0.999982312740861	0.768
18	641542	G	C	18	641542	y	y	splicing	CLUL1(NM_014410:exon7:c.1209+1G>C;NM_001289036:exon9:c.1365+1G>C;NM_199167:exon7:c.1209+1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.1209+1G>C;ENST00000540035:exon9:c.1365+1G>C;ENST00000581619:exon7:c.1284+1G>C;ENST00000338387:exon7:c.1209+1G>C;ENST00000579494:exon7:c.1209+1G>C;ENST00000585155:exon1:c.70+1G>C)	.	.	0.999987958061382	0.772
18	641542	G	T	18	641542	y	y	splicing	CLUL1(NM_014410:exon7:c.1209+1G>T;NM_001289036:exon9:c.1365+1G>T;NM_199167:exon7:c.1209+1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.1209+1G>T;ENST00000540035:exon9:c.1365+1G>T;ENST00000581619:exon7:c.1284+1G>T;ENST00000338387:exon7:c.1209+1G>T;ENST00000579494:exon7:c.1209+1G>T;ENST00000585155:exon1:c.70+1G>T)	.	.	0.999987958061382	0.77
18	641543	T	A	18	641543	y	y	splicing	CLUL1(NM_014410:exon7:c.1209+2T>A;NM_001289036:exon9:c.1365+2T>A;NM_199167:exon7:c.1209+2T>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.1209+2T>A;ENST00000540035:exon9:c.1365+2T>A;ENST00000581619:exon7:c.1284+2T>A;ENST00000338387:exon7:c.1209+2T>A;ENST00000579494:exon7:c.1209+2T>A;ENST00000585155:exon1:c.70+2T>A)	.	.	0.999989378869813	0.754
18	641543	T	C	18	641543	y	y	splicing	CLUL1(NM_014410:exon7:c.1209+2T>C;NM_001289036:exon9:c.1365+2T>C;NM_199167:exon7:c.1209+2T>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.1209+2T>C;ENST00000540035:exon9:c.1365+2T>C;ENST00000581619:exon7:c.1284+2T>C;ENST00000338387:exon7:c.1209+2T>C;ENST00000579494:exon7:c.1209+2T>C;ENST00000585155:exon1:c.70+2T>C)	.	.	0.900075261276279	0.472
18	641543	T	G	18	641543	y	y	splicing	CLUL1(NM_014410:exon7:c.1209+2T>G;NM_001289036:exon9:c.1365+2T>G;NM_199167:exon7:c.1209+2T>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon7:c.1209+2T>G;ENST00000540035:exon9:c.1365+2T>G;ENST00000581619:exon7:c.1284+2T>G;ENST00000338387:exon7:c.1209+2T>G;ENST00000579494:exon7:c.1209+2T>G;ENST00000585155:exon1:c.70+2T>G)	.	.	0.999989378869813	0.754
18	641544	A	C	18	641544	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.99976611025196	0.862
18	641544	A	G	18	641544	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.952074879586409	0.494
18	641544	A	T	18	641544	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.999287484906314	0.82
18	641545	A	C	18	641545	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.0420736339401412	0.33
18	641545	A	G	18	641545	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.151783974796161	0.47
18	641545	A	T	18	641545	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.0831092810701116	0.414
18	641546	A	C	18	641546	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.70579843283995E-5	0.016
18	641546	A	G	18	641546	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	3.94757074428607E-5	0.072
18	641546	A	T	18	641546	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	2.84839152941716E-5	0.004
18	641547	G	A	18	641547	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	6.51792003635909E-5	0.006
18	641547	G	C	18	641547	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	2.92152575177429E-4	0.08
18	641547	G	T	18	641547	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	6.42635084626071E-5	0.0
18	641548	G	A	18	641548	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.76053998909407E-4	0.0
18	641548	G	C	18	641548	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.76053998909407E-4	0.0
18	641548	G	T	18	641548	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.49095732215121E-4	0.0
18	641549	A	C	18	641549	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	3.87023295463176E-5	0.0
18	641549	A	G	18	641549	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.04860152160254E-5	0.0
18	641549	A	T	18	641549	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	2.58666978049376E-5	0.0
18	644898	C	A	18	644898	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.05680975762293E-4	0.056
18	644898	C	G	18	644898	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	4.66299743149469E-5	0.036
18	644898	C	T	18	644898	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	2.50532186795711E-5	0.0
18	644899	T	A	18	644899	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.0101062561294474	0.332
18	644899	T	C	18	644899	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.00214949731660899	0.11
18	644899	T	G	18	644899	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.00178544752953196	0.318
18	644900	T	A	18	644900	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.00558853390666698	0.096
18	644900	T	C	18	644900	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	6.41220490226292E-5	0.002
18	644900	T	G	18	644900	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.00162969872253273	0.126
18	644901	C	A	18	644901	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.70263554650679E-4	0.04
18	644901	C	G	18	644901	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.58424270912942E-4	0.02
18	644901	C	T	18	644901	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.97930926640417E-5	0.0
18	644902	T	A	18	644902	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	3.50825997938287E-4	0.092
18	644902	T	C	18	644902	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	3.01380953270838E-5	0.016
18	644902	T	G	18	644902	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	7.23305381639759E-5	0.056
18	644903	T	A	18	644903	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.82509805079678E-4	0.076
18	644903	T	C	18	644903	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.35655563666757E-5	0.004
18	644903	T	G	18	644903	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.82509805079678E-4	0.078
18	644904	C	A	18	644904	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.00180497910026527	0.118
18	644904	C	G	18	644904	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	8.2539613853095E-4	0.078
18	644904	C	T	18	644904	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.4573814293964E-5	0.006
18	644905	T	A	18	644905	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.983102398296265	0.882
18	644905	T	C	18	644905	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	4.01089169387402E-5	0.002
18	644905	T	G	18	644905	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.00203435038827858	0.148
18	644906	G	A	18	644906	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	1.68219409758412E-5	0.0
18	644906	G	C	18	644906	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	5.35683307572348E-5	0.058
18	644906	G	T	18	644906	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	2.5353028522982E-5	0.002
18	644907	T	A	18	644907	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.00129222067822034	0.108
18	644907	T	C	18	644907	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	5.92683781778068E-5	0.0
18	644907	T	G	18	644907	y	y	intronic	CLUL1	.	.	intronic	ENSG00000079101;ENSG00000176912	.	.	0.917787273001999	0.628
18	644908	A	C	18	644908	y	y	splicing	CLUL1(NM_014410:exon8:c.1210-2A>C;NM_001289036:exon10:c.1366-2A>C;NM_199167:exon8:c.1210-2A>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon8:c.1210-2A>C;ENST00000540035:exon10:c.1366-2A>C;ENST00000581619:exon8:c.1285-2A>C;ENST00000338387:exon8:c.1210-2A>C;ENST00000579494:exon8:c.1210-2A>C)	.	.	0.999989378869813	0.756
18	644908	A	G	18	644908	y	y	splicing	CLUL1(NM_014410:exon8:c.1210-2A>G;NM_001289036:exon10:c.1366-2A>G;NM_199167:exon8:c.1210-2A>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon8:c.1210-2A>G;ENST00000540035:exon10:c.1366-2A>G;ENST00000581619:exon8:c.1285-2A>G;ENST00000338387:exon8:c.1210-2A>G;ENST00000579494:exon8:c.1210-2A>G)	.	.	0.999989378869813	0.756
18	644908	A	T	18	644908	y	y	splicing	CLUL1(NM_014410:exon8:c.1210-2A>T;NM_001289036:exon10:c.1366-2A>T;NM_199167:exon8:c.1210-2A>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon8:c.1210-2A>T;ENST00000540035:exon10:c.1366-2A>T;ENST00000581619:exon8:c.1285-2A>T;ENST00000338387:exon8:c.1210-2A>T;ENST00000579494:exon8:c.1210-2A>T)	.	.	0.999989378869813	0.756
18	644909	G	A	18	644909	y	y	splicing	CLUL1(NM_014410:exon8:c.1210-1G>A;NM_001289036:exon10:c.1366-1G>A;NM_199167:exon8:c.1210-1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon8:c.1210-1G>A;ENST00000540035:exon10:c.1366-1G>A;ENST00000581619:exon8:c.1285-1G>A;ENST00000338387:exon8:c.1210-1G>A;ENST00000579494:exon8:c.1210-1G>A)	.	.	0.999987958061382	0.77
18	644909	G	C	18	644909	y	y	splicing	CLUL1(NM_014410:exon8:c.1210-1G>C;NM_001289036:exon10:c.1366-1G>C;NM_199167:exon8:c.1210-1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon8:c.1210-1G>C;ENST00000540035:exon10:c.1366-1G>C;ENST00000581619:exon8:c.1285-1G>C;ENST00000338387:exon8:c.1210-1G>C;ENST00000579494:exon8:c.1210-1G>C)	.	.	0.999987958061382	0.77
18	644909	G	T	18	644909	y	y	splicing	CLUL1(NM_014410:exon8:c.1210-1G>T;NM_001289036:exon10:c.1366-1G>T;NM_199167:exon8:c.1210-1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon8:c.1210-1G>T;ENST00000540035:exon10:c.1366-1G>T;ENST00000581619:exon8:c.1285-1G>T;ENST00000338387:exon8:c.1210-1G>T;ENST00000579494:exon8:c.1210-1G>T)	.	.	0.999987958061382	0.77
18	644910	G	A	18	644910	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.G1366A:p.V456I;CLUL1:NM_014410:exon8:c.G1210A:p.V404I;CLUL1:NM_199167:exon8:c.G1210A:p.V404I;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.G1366A:p.V456I;ENSG00000079101:ENST00000581619:exon8:c.G1285A:p.V429I;ENSG00000079101:ENST00000400606:exon8:c.G1210A:p.V404I;ENSG00000079101:ENST00000579494:exon8:c.G1210A:p.V404I;ENSG00000079101:ENST00000338387:exon8:c.G1210A:p.V404I;	0.00410576789066122	0.178
18	644910	G	C	18	644910	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.G1366C:p.V456L;CLUL1:NM_014410:exon8:c.G1210C:p.V404L;CLUL1:NM_199167:exon8:c.G1210C:p.V404L;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.G1366C:p.V456L;ENSG00000079101:ENST00000581619:exon8:c.G1285C:p.V429L;ENSG00000079101:ENST00000400606:exon8:c.G1210C:p.V404L;ENSG00000079101:ENST00000579494:exon8:c.G1210C:p.V404L;ENSG00000079101:ENST00000338387:exon8:c.G1210C:p.V404L;	0.132222653325949	0.388
18	644910	G	T	18	644910	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.G1366T:p.V456L;CLUL1:NM_014410:exon8:c.G1210T:p.V404L;CLUL1:NM_199167:exon8:c.G1210T:p.V404L;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.G1366T:p.V456L;ENSG00000079101:ENST00000581619:exon8:c.G1285T:p.V429L;ENSG00000079101:ENST00000400606:exon8:c.G1210T:p.V404L;ENSG00000079101:ENST00000579494:exon8:c.G1210T:p.V404L;ENSG00000079101:ENST00000338387:exon8:c.G1210T:p.V404L;	0.890549849435205	0.53
18	644911	T	A	18	644911	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.T1367A:p.V456E;CLUL1:NM_014410:exon8:c.T1211A:p.V404E;CLUL1:NM_199167:exon8:c.T1211A:p.V404E;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.T1367A:p.V456E;ENSG00000079101:ENST00000581619:exon8:c.T1286A:p.V429E;ENSG00000079101:ENST00000400606:exon8:c.T1211A:p.V404E;ENSG00000079101:ENST00000579494:exon8:c.T1211A:p.V404E;ENSG00000079101:ENST00000338387:exon8:c.T1211A:p.V404E;	8.55924808462812E-5	0.002
18	644911	T	C	18	644911	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.T1367C:p.V456A;CLUL1:NM_014410:exon8:c.T1211C:p.V404A;CLUL1:NM_199167:exon8:c.T1211C:p.V404A;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.T1367C:p.V456A;ENSG00000079101:ENST00000581619:exon8:c.T1286C:p.V429A;ENSG00000079101:ENST00000400606:exon8:c.T1211C:p.V404A;ENSG00000079101:ENST00000579494:exon8:c.T1211C:p.V404A;ENSG00000079101:ENST00000338387:exon8:c.T1211C:p.V404A;	1.45304157951519E-4	0.018
18	644911	T	G	18	644911	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.T1367G:p.V456G;CLUL1:NM_014410:exon8:c.T1211G:p.V404G;CLUL1:NM_199167:exon8:c.T1211G:p.V404G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.T1367G:p.V456G;ENSG00000079101:ENST00000581619:exon8:c.T1286G:p.V429G;ENSG00000079101:ENST00000400606:exon8:c.T1211G:p.V404G;ENSG00000079101:ENST00000579494:exon8:c.T1211G:p.V404G;ENSG00000079101:ENST00000338387:exon8:c.T1211G:p.V404G;	1.79462136185974E-4	0.01
18	645095	C	A	18	645095	y	n	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon10:c.C1551A:p.T517T;CLUL1:NM_014410:exon8:c.C1395A:p.T465T;CLUL1:NM_199167:exon8:c.C1395A:p.T465T;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.C1551A:p.T517T;ENSG00000079101:ENST00000581619:exon8:c.C1470A:p.T490T;ENSG00000079101:ENST00000400606:exon8:c.C1395A:p.T465T;ENSG00000079101:ENST00000579494:exon8:c.C1395A:p.T465T;ENSG00000079101:ENST00000338387:exon8:c.C1395A:p.T465T;	1.05179676268831E-5	0.008
18	645095	C	G	18	645095	y	n	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon10:c.C1551G:p.T517T;CLUL1:NM_014410:exon8:c.C1395G:p.T465T;CLUL1:NM_199167:exon8:c.C1395G:p.T465T;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.C1551G:p.T517T;ENSG00000079101:ENST00000581619:exon8:c.C1470G:p.T490T;ENSG00000079101:ENST00000400606:exon8:c.C1395G:p.T465T;ENSG00000079101:ENST00000579494:exon8:c.C1395G:p.T465T;ENSG00000079101:ENST00000338387:exon8:c.C1395G:p.T465T;	8.87755071278562E-6	0.008
18	645095	C	T	18	645095	y	n	exonic	CLUL1	synonymous SNV	CLUL1:NM_001289036:exon10:c.C1551T:p.T517T;CLUL1:NM_014410:exon8:c.C1395T:p.T465T;CLUL1:NM_199167:exon8:c.C1395T:p.T465T;	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.C1551T:p.T517T;ENSG00000079101:ENST00000581619:exon8:c.C1470T:p.T490T;ENSG00000079101:ENST00000400606:exon8:c.C1395T:p.T465T;ENSG00000079101:ENST00000579494:exon8:c.C1395T:p.T465T;ENSG00000079101:ENST00000338387:exon8:c.C1395T:p.T465T;	7.48255245952528E-5	0.02
18	645096	T	A	18	645096	y	n	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.T1552A:p.W518R;CLUL1:NM_014410:exon8:c.T1396A:p.W466R;CLUL1:NM_199167:exon8:c.T1396A:p.W466R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.T1552A:p.W518R;ENSG00000079101:ENST00000581619:exon8:c.T1471A:p.W491R;ENSG00000079101:ENST00000400606:exon8:c.T1396A:p.W466R;ENSG00000079101:ENST00000579494:exon8:c.T1396A:p.W466R;ENSG00000079101:ENST00000338387:exon8:c.T1396A:p.W466R;	4.96755241917565E-4	0.12
18	645096	T	C	18	645096	y	n	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.T1552C:p.W518R;CLUL1:NM_014410:exon8:c.T1396C:p.W466R;CLUL1:NM_199167:exon8:c.T1396C:p.W466R;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.T1552C:p.W518R;ENSG00000079101:ENST00000581619:exon8:c.T1471C:p.W491R;ENSG00000079101:ENST00000400606:exon8:c.T1396C:p.W466R;ENSG00000079101:ENST00000579494:exon8:c.T1396C:p.W466R;ENSG00000079101:ENST00000338387:exon8:c.T1396C:p.W466R;	0.00112122164455798	0.034
18	645096	T	G	18	645096	y	n	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.T1552G:p.W518G;CLUL1:NM_014410:exon8:c.T1396G:p.W466G;CLUL1:NM_199167:exon8:c.T1396G:p.W466G;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.T1552G:p.W518G;ENSG00000079101:ENST00000581619:exon8:c.T1471G:p.W491G;ENSG00000079101:ENST00000400606:exon8:c.T1396G:p.W466G;ENSG00000079101:ENST00000579494:exon8:c.T1396G:p.W466G;ENSG00000079101:ENST00000338387:exon8:c.T1396G:p.W466G;	0.00528420421105779	0.052
18	645097	G	A	18	645097	y	n	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon10:c.G1553A:p.W518X;CLUL1:NM_014410:exon8:c.G1397A:p.W466X;CLUL1:NM_199167:exon8:c.G1397A:p.W466X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon10:c.G1553A:p.W518X;ENSG00000079101:ENST00000581619:exon8:c.G1472A:p.W491X;ENSG00000079101:ENST00000400606:exon8:c.G1397A:p.W466X;ENSG00000079101:ENST00000579494:exon8:c.G1397A:p.W466X;ENSG00000079101:ENST00000338387:exon8:c.G1397A:p.W466X;	0.999740064096967	0.99
18	645097	G	C	18	645097	y	n	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.G1553C:p.W518S;CLUL1:NM_014410:exon8:c.G1397C:p.W466S;CLUL1:NM_199167:exon8:c.G1397C:p.W466S;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.G1553C:p.W518S;ENSG00000079101:ENST00000581619:exon8:c.G1472C:p.W491S;ENSG00000079101:ENST00000400606:exon8:c.G1397C:p.W466S;ENSG00000079101:ENST00000579494:exon8:c.G1397C:p.W466S;ENSG00000079101:ENST00000338387:exon8:c.G1397C:p.W466S;	0.999962148052765	0.918
18	645097	G	T	18	645097	y	n	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon10:c.G1553T:p.W518L;CLUL1:NM_014410:exon8:c.G1397T:p.W466L;CLUL1:NM_199167:exon8:c.G1397T:p.W466L;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon10:c.G1553T:p.W518L;ENSG00000079101:ENST00000581619:exon8:c.G1472T:p.W491L;ENSG00000079101:ENST00000400606:exon8:c.G1397T:p.W466L;ENSG00000079101:ENST00000579494:exon8:c.G1397T:p.W466L;ENSG00000079101:ENST00000338387:exon8:c.G1397T:p.W466L;	0.999414436217546	0.974
18	645098	G	A	18	645098	y	n	splicing	CLUL1(NM_014410:exon8:c.1397+1G>A;NM_001289036:exon10:c.1553+1G>A;NM_199167:exon8:c.1397+1G>A)	.	.	exonic;splicing	ENSG00000079101;ENSG00000079101(ENST00000400606:exon8:c.1397+1G>A;ENST00000540035:exon10:c.1553+1G>A;ENST00000338387:exon8:c.1397+1G>A;ENST00000579494:exon8:c.1397+1G>A)	stopgain SNV	ENSG00000079101:ENST00000581619:exon8:c.G1473A:p.W491X;	0.999929609571291	0.772
18	645098	G	C	18	645098	y	n	splicing	CLUL1(NM_014410:exon8:c.1397+1G>C;NM_001289036:exon10:c.1553+1G>C;NM_199167:exon8:c.1397+1G>C)	.	.	exonic;splicing	ENSG00000079101;ENSG00000079101(ENST00000400606:exon8:c.1397+1G>C;ENST00000540035:exon10:c.1553+1G>C;ENST00000338387:exon8:c.1397+1G>C;ENST00000579494:exon8:c.1397+1G>C)	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon8:c.G1473C:p.W491C;	0.999935804737287	0.772
18	645098	G	T	18	645098	y	n	splicing	CLUL1(NM_014410:exon8:c.1397+1G>T;NM_001289036:exon10:c.1553+1G>T;NM_199167:exon8:c.1397+1G>T)	.	.	exonic;splicing	ENSG00000079101;ENSG00000079101(ENST00000400606:exon8:c.1397+1G>T;ENST00000540035:exon10:c.1553+1G>T;ENST00000338387:exon8:c.1397+1G>T;ENST00000579494:exon8:c.1397+1G>T)	nonsynonymous SNV	ENSG00000079101:ENST00000581619:exon8:c.G1473T:p.W491C;	0.999929609571291	0.772
18	645099	T	A	18	645099	y	n	splicing	CLUL1(NM_014410:exon8:c.1397+2T>A;NM_001289036:exon10:c.1553+2T>A;NM_199167:exon8:c.1397+2T>A)	.	.	exonic;splicing	ENSG00000079101;ENSG00000079101(ENST00000400606:exon8:c.1397+2T>A;ENST00000540035:exon10:c.1553+2T>A;ENST00000338387:exon8:c.1397+2T>A;ENST00000579494:exon8:c.1397+2T>A)	stoploss SNV	ENSG00000079101:ENST00000581619:exon8:c.T1474A:p.X492K;	0.999941977319723	0.77
18	645099	T	C	18	645099	y	n	splicing	CLUL1(NM_014410:exon8:c.1397+2T>C;NM_001289036:exon10:c.1553+2T>C;NM_199167:exon8:c.1397+2T>C)	.	.	exonic;splicing	ENSG00000079101;ENSG00000079101(ENST00000400606:exon8:c.1397+2T>C;ENST00000540035:exon10:c.1553+2T>C;ENST00000338387:exon8:c.1397+2T>C;ENST00000579494:exon8:c.1397+2T>C)	stoploss SNV	ENSG00000079101:ENST00000581619:exon8:c.T1474C:p.X492Q;	0.998918220668304	0.718
18	645099	T	G	18	645099	y	n	splicing	CLUL1(NM_014410:exon8:c.1397+2T>G;NM_001289036:exon10:c.1553+2T>G;NM_199167:exon8:c.1397+2T>G)	.	.	exonic;splicing	ENSG00000079101;ENSG00000079101(ENST00000400606:exon8:c.1397+2T>G;ENST00000540035:exon10:c.1553+2T>G;ENST00000338387:exon8:c.1397+2T>G;ENST00000579494:exon8:c.1397+2T>G)	stoploss SNV	ENSG00000079101:ENST00000581619:exon8:c.T1474G:p.X492E;	0.999941977319723	0.772
18	645100	A	C	18	645100	y	n	intronic	CLUL1	.	.	exonic	ENSG00000079101	stoploss SNV	ENSG00000079101:ENST00000581619:exon8:c.A1475C:p.X492S;	0.98693412300487	0.794
18	645100	A	G	18	645100	y	n	intronic	CLUL1	.	.	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000581619:exon8:c.A1475G:p.X492X;	0.0135934071554404	0.194
18	645100	A	T	18	645100	y	n	intronic	CLUL1	.	.	exonic	ENSG00000079101	stoploss SNV	ENSG00000079101:ENST00000581619:exon8:c.A1475T:p.X492L;	0.993520065472329	0.774
18	645101	A	C	18	645101	y	n	intronic	CLUL1	.	.	exonic	ENSG00000079101	stoploss SNV	ENSG00000079101:ENST00000581619:exon8:c.A1476C:p.X492Y;	0.0863412489335931	0.394
18	645101	A	G	18	645101	y	n	intronic	CLUL1	.	.	exonic	ENSG00000079101	synonymous SNV	ENSG00000079101:ENST00000581619:exon8:c.A1476G:p.X492X;	0.484169692853778	0.362
18	645101	A	T	18	645101	y	n	intronic	CLUL1	.	.	exonic	ENSG00000079101	stoploss SNV	ENSG00000079101:ENST00000581619:exon8:c.A1476T:p.X492Y;	0.308302632023547	0.452
18	645102	G	A	18	645102	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	0.99488629381146	0.77
18	645102	G	C	18	645102	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	0.99959405379923	0.838
18	645102	G	T	18	645102	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	0.988402902598379	0.702
18	645103	C	A	18	645103	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	5.71006450140312E-5	0.006
18	645103	C	G	18	645103	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	3.56284183779828E-5	0.024
18	645103	C	T	18	645103	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	2.00797025845176E-5	0.0
18	645104	A	C	18	645104	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	2.80577309900093E-5	0.024
18	645104	A	G	18	645104	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	3.03564024074916E-5	0.036
18	645104	A	T	18	645104	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	3.03564024074916E-5	0.028
18	645105	G	A	18	645105	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	6.51383879749987E-5	0.0
18	645105	G	C	18	645105	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	6.36427992166171E-5	0.0
18	645105	G	T	18	645105	y	n	intronic	CLUL1	.	.	UTR3	ENSG00000079101	.	.	6.36427992166171E-5	0.06
18	649886	T	A	18	649886	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	7.13832293831386E-5	0.092
18	649886	T	C	18	649886	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	1.78749631771972E-5	0.008
18	649886	T	G	18	649886	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	4.67692757225513E-5	0.154
18	649887	T	A	18	649887	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	1.65760660122093E-4	0.076
18	649887	T	C	18	649887	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	1.00453329593363E-4	0.066
18	649887	T	G	18	649887	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	1.69915545367106E-4	0.106
18	649888	T	A	18	649888	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	5.12426193661966E-5	0.056
18	649888	T	C	18	649888	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	1.67970669588849E-5	0.004
18	649888	T	G	18	649888	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	2.59214524325987E-5	0.046
18	649889	T	A	18	649889	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	1.584374924164E-4	0.126
18	649889	T	C	18	649889	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	4.3827718327177E-5	0.002
18	649889	T	G	18	649889	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	6.27148307426158E-5	0.138
18	649890	T	A	18	649890	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	6.16979026867853E-4	0.112
18	649890	T	C	18	649890	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	8.2487763432406E-4	0.05
18	649890	T	G	18	649890	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	8.2487763432406E-4	0.072
18	649891	T	A	18	649891	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	6.38393780490178E-4	0.112
18	649891	T	C	18	649891	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	8.2487763432406E-4	0.05
18	649891	T	G	18	649891	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	8.2487763432406E-4	0.1
18	649892	T	A	18	649892	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	0.00309973826082228	0.182
18	649892	T	C	18	649892	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	8.2487763432406E-4	0.08
18	649892	T	G	18	649892	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	0.00431281118408308	0.182
18	649893	T	A	18	649893	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	5.58500736133786E-4	0.182
18	649893	T	C	18	649893	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	3.31289318946067E-5	0.018
18	649893	T	G	18	649893	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	8.46243697823966E-4	0.192
18	649894	T	A	18	649894	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	1.11137539326201E-4	0.094
18	649894	T	C	18	649894	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	5.07731598261612E-5	0.144
18	649894	T	G	18	649894	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	2.12830762259549E-4	0.052
18	649895	A	C	18	649895	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	8.2487763432406E-4	0.058
18	649895	A	G	18	649895	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	0.0067524437088504	0.148
18	649895	A	T	18	649895	y	y	UTR3	C18orf56	.	.	UTR3	ENSG00000176912	.	.	8.2487763432406E-4	0.044
18	649896	A	C	18	649896	y	y	splicing	CLUL1(NM_014410:exon9:c.1398-2A>C;NM_001289036:exon11:c.1554-2A>C;NM_199167:exon9:c.1398-2A>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon9:c.1398-2A>C;ENST00000540035:exon11:c.1554-2A>C;ENST00000338387:exon9:c.1398-2A>C;ENST00000579494:exon9:c.1398-2A>C;ENST00000585155:exon2:c.71-2A>C)	.	.	0.999974045756012	0.742
18	649896	A	G	18	649896	y	y	splicing	CLUL1(NM_014410:exon9:c.1398-2A>G;NM_001289036:exon11:c.1554-2A>G;NM_199167:exon9:c.1398-2A>G)	.	.	splicing	ENSG00000079101(ENST00000400606:exon9:c.1398-2A>G;ENST00000540035:exon11:c.1554-2A>G;ENST00000338387:exon9:c.1398-2A>G;ENST00000579494:exon9:c.1398-2A>G;ENST00000585155:exon2:c.71-2A>G)	.	.	0.999974045756012	0.742
18	649896	A	T	18	649896	y	y	splicing	CLUL1(NM_014410:exon9:c.1398-2A>T;NM_001289036:exon11:c.1554-2A>T;NM_199167:exon9:c.1398-2A>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon9:c.1398-2A>T;ENST00000540035:exon11:c.1554-2A>T;ENST00000338387:exon9:c.1398-2A>T;ENST00000579494:exon9:c.1398-2A>T;ENST00000585155:exon2:c.71-2A>T)	.	.	0.999974045756012	0.74
18	649897	G	A	18	649897	y	y	splicing	CLUL1(NM_014410:exon9:c.1398-1G>A;NM_001289036:exon11:c.1554-1G>A;NM_199167:exon9:c.1398-1G>A)	.	.	splicing	ENSG00000079101(ENST00000400606:exon9:c.1398-1G>A;ENST00000540035:exon11:c.1554-1G>A;ENST00000338387:exon9:c.1398-1G>A;ENST00000579494:exon9:c.1398-1G>A;ENST00000585155:exon2:c.71-1G>A)	.	.	0.999959719829109	0.732
18	649897	G	C	18	649897	y	y	splicing	CLUL1(NM_014410:exon9:c.1398-1G>C;NM_001289036:exon11:c.1554-1G>C;NM_199167:exon9:c.1398-1G>C)	.	.	splicing	ENSG00000079101(ENST00000400606:exon9:c.1398-1G>C;ENST00000540035:exon11:c.1554-1G>C;ENST00000338387:exon9:c.1398-1G>C;ENST00000579494:exon9:c.1398-1G>C;ENST00000585155:exon2:c.71-1G>C)	.	.	0.999959719829109	0.73
18	649897	G	T	18	649897	y	y	splicing	CLUL1(NM_014410:exon9:c.1398-1G>T;NM_001289036:exon11:c.1554-1G>T;NM_199167:exon9:c.1398-1G>T)	.	.	splicing	ENSG00000079101(ENST00000400606:exon9:c.1398-1G>T;ENST00000540035:exon11:c.1554-1G>T;ENST00000338387:exon9:c.1398-1G>T;ENST00000579494:exon9:c.1398-1G>T;ENST00000585155:exon2:c.71-1G>T)	.	.	0.999959719829109	0.73
18	649898	G	A	18	649898	y	y	exonic	CLUL1	stopgain SNV	CLUL1:NM_001289036:exon11:c.G1554A:p.W518X;CLUL1:NM_014410:exon9:c.G1398A:p.W466X;CLUL1:NM_199167:exon9:c.G1398A:p.W466X;	exonic	ENSG00000079101	stopgain SNV	ENSG00000079101:ENST00000540035:exon11:c.G1554A:p.W518X;ENSG00000079101:ENST00000400606:exon9:c.G1398A:p.W466X;ENSG00000079101:ENST00000579494:exon9:c.G1398A:p.W466X;ENSG00000079101:ENST00000338387:exon9:c.G1398A:p.W466X;	0.0496674617257846	0.3
18	649898	G	C	18	649898	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon11:c.G1554C:p.W518C;CLUL1:NM_014410:exon9:c.G1398C:p.W466C;CLUL1:NM_199167:exon9:c.G1398C:p.W466C;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon11:c.G1554C:p.W518C;ENSG00000079101:ENST00000400606:exon9:c.G1398C:p.W466C;ENSG00000079101:ENST00000579494:exon9:c.G1398C:p.W466C;ENSG00000079101:ENST00000338387:exon9:c.G1398C:p.W466C;	0.0348596006277	0.346
18	649898	G	T	18	649898	y	y	exonic	CLUL1	nonsynonymous SNV	CLUL1:NM_001289036:exon11:c.G1554T:p.W518C;CLUL1:NM_014410:exon9:c.G1398T:p.W466C;CLUL1:NM_199167:exon9:c.G1398T:p.W466C;	exonic	ENSG00000079101	nonsynonymous SNV	ENSG00000079101:ENST00000540035:exon11:c.G1554T:p.W518C;ENSG00000079101:ENST00000400606:exon9:c.G1398T:p.W466C;ENSG00000079101:ENST00000579494:exon9:c.G1398T:p.W466C;ENSG00000079101:ENST00000338387:exon9:c.G1398T:p.W466C;	0.151258995797317	0.498
18	649899	T	A	18	649899	y	y	exonic	CLUL1	stoploss SNV	CLUL1:NM_001289036:exon11:c.T1555A:p.X519K;CLUL1:NM_014410:exon9:c.T1399A:p.X467K;CLUL1:NM_199167:exon9:c.T1399A:p.X467K;	exonic	ENSG00000079101	stoploss SNV	ENSG00000079101:ENST00000540035:exon11:c.T1555A:p.X519K;ENSG00000079101:ENST00000400606:exon9:c.T1399A:p.X467K;ENSG00000079101:ENST00000579494:exon9:c.T1399A:p.X467K;ENSG00000079101:ENST00000338387:exon9:c.T1399A:p.X467K;	8.2487763432406E-4	0.046
18	649899	T	C	18	649899	y	y	exonic	CLUL1	stoploss SNV	CLUL1:NM_001289036:exon11:c.T1555C:p.X519Q;CLUL1:NM_014410:exon9:c.T1399C:p.X467Q;CLUL1:NM_199167:exon9:c.T1399C:p.X467Q;	exonic	ENSG00000079101	stoploss SNV	ENSG00000079101:ENST00000540035:exon11:c.T1555C:p.X519Q;ENSG00000079101:ENST00000400606:exon9:c.T1399C:p.X467Q;ENSG00000079101:ENST00000579494:exon9:c.T1399C:p.X467Q;ENSG00000079101:ENST00000338387:exon9:c.T1399C:p.X467Q;	3.91897672558344E-4	0.116
18	649899	T	G	18	649899	y	y	exonic	CLUL1	stoploss SNV	CLUL1:NM_001289036:exon11:c.T1555G:p.X519E;CLUL1:NM_014410:exon9:c.T1399G:p.X467E;CLUL1:NM_199167:exon9:c.T1399G:p.X467E;	exonic	ENSG00000079101	stoploss SNV	ENSG00000079101:ENST00000540035:exon11:c.T1555G:p.X519E;ENSG00000079101:ENST00000400606:exon9:c.T1399G:p.X467E;ENSG00000079101:ENST00000579494:exon9:c.T1399G:p.X467E;ENSG00000079101:ENST00000338387:exon9:c.T1399G:p.X467E;	3.47671326462734E-4	0.044
18	649963	T	A	18	649963	y	y	UTR3	C18orf56;CLUL1	.	.	UTR3	ENSG00000079101;ENSG00000176912	.	.	3.47671326462734E-4	0.032
18	649963	T	C	18	649963	y	y	UTR3	C18orf56;CLUL1	.	.	UTR3	ENSG00000079101;ENSG00000176912	.	.	3.47671326462734E-4	0.032
18	649963	T	G	18	649963	y	y	UTR3	C18orf56;CLUL1	.	.	UTR3	ENSG00000079101;ENSG00000176912	.	.	3.47671326462734E-4	0.076
18	649964	C	A	18	649964	y	y	UTR3	C18orf56;CLUL1	.	.	UTR3	ENSG00000079101;ENSG00000176912	.	.	0.0343374575518991	0.384
18	649964	C	G	18	649964	y	y	UTR3	C18orf56;CLUL1	.	.	UTR3	ENSG00000079101;ENSG00000176912	.	.	0.0011971485343975	0.31
18	649964	C	T	18	649964	y	y	UTR3	C18orf56;CLUL1	.	.	UTR3	ENSG00000079101;ENSG00000176912	.	.	4.85518865746236E-5	0.154
18	649965	C	A	18	649965	y	y	splicing	C18orf56(NM_001012716:exon3:c.407-1G>T)	.	.	splicing	ENSG00000176912(ENST00000323813:exon3:c.407-1G>T)	.	.	0.999900325104898	0.616
18	649965	C	G	18	649965	y	y	splicing	C18orf56(NM_001012716:exon3:c.407-1G>C)	.	.	splicing	ENSG00000176912(ENST00000323813:exon3:c.407-1G>C)	.	.	0.999900325104898	0.616
18	649965	C	T	18	649965	y	y	splicing	C18orf56(NM_001012716:exon3:c.407-1G>A)	.	.	splicing	ENSG00000176912(ENST00000323813:exon3:c.407-1G>A)	.	.	0.999900325104898	0.612
18	649966	T	A	18	649966	y	y	splicing	C18orf56(NM_001012716:exon3:c.407-2A>T)	.	.	splicing	ENSG00000176912(ENST00000323813:exon3:c.407-2A>T)	.	.	0.997317843005647	0.412
18	649966	T	C	18	649966	y	y	splicing	C18orf56(NM_001012716:exon3:c.407-2A>G)	.	.	splicing	ENSG00000176912(ENST00000323813:exon3:c.407-2A>G)	.	.	0.998074752760869	0.414
18	649966	T	G	18	649966	y	y	splicing	C18orf56(NM_001012716:exon3:c.407-2A>C)	.	.	splicing	ENSG00000176912(ENST00000323813:exon3:c.407-2A>C)	.	.	0.998074752760869	0.414
18	649967	G	A	18	649967	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	4.00234739581392E-4	0.132
18	649967	G	C	18	649967	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	0.46094211641641	0.518
18	649967	G	T	18	649967	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	0.0395070963426947	0.408
18	649968	A	C	18	649968	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.97575913014477E-5	0.01
18	649968	A	G	18	649968	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	2.12082129509755E-5	0.008
18	649968	A	T	18	649968	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.30042175902775E-5	0.012
18	649969	A	C	18	649969	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	5.01767589357199E-4	0.2
18	649969	A	G	18	649969	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.45004151438056E-4	0.086
18	649969	A	T	18	649969	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	2.85587166772601E-4	0.152
18	649970	A	C	18	649970	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	0.997182275184465	0.778
18	649970	A	G	18	649970	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.33627308709219E-5	0.008
18	649970	A	T	18	649970	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.07410612645001E-4	0.07
18	649971	T	A	18	649971	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.51589443294673E-5	0.078
18	649971	T	C	18	649971	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.51589443294673E-5	0.09
18	649971	T	G	18	649971	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.51589443294673E-5	0.092
18	649972	A	C	18	649972	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	2.84389059487538E-5	0.048
18	649972	A	G	18	649972	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.78332238336359E-5	0.006
18	649972	A	T	18	649972	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	3.01156919947323E-5	0.06
18	649973	A	C	18	649973	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	6.81551569156613E-5	0.048
18	649973	A	G	18	649973	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	3.9308642217796E-5	0.002
18	649973	A	T	18	649973	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	6.81551569156613E-5	0.06
18	649974	A	C	18	649974	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	7.6589880154103E-5	0.064
18	649974	A	G	18	649974	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	7.6589880154103E-5	0.064
18	649974	A	T	18	649974	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.35853819336384E-4	0.064
18	649975	A	C	18	649975	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	2.73414681045589E-4	0.108
18	649975	A	G	18	649975	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	8.9205579791821E-5	0.104
18	649975	A	T	18	649975	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	2.51291769563711E-4	0.07
18	649976	A	C	18	649976	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	4.77313625399147E-5	0.152
18	649976	A	G	18	649976	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	4.32834129774712E-5	0.038
18	649976	A	T	18	649976	y	y	UTR3	CLUL1	.	.	UTR3	ENSG00000079101	.	.	1.24160547127918E-4	0.168
18	659629	A	C	18	659629	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.53161245857248E-4	0.038
18	659629	A	G	18	659629	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.998675508523402	0.894
18	659629	A	T	18	659629	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	8.68934715186653E-4	0.046
18	659630	T	A	18	659630	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.097982924370825	0.452
18	659630	T	C	18	659630	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00174845871502919	0.124
18	659630	T	G	18	659630	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.997972689066049	0.962
18	659631	T	A	18	659631	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999947188491059	0.954
18	659631	T	C	18	659631	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0010698343593955	0.04
18	659631	T	G	18	659631	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.262393243885632	0.478
18	659632	G	A	18	659632	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	4.3575060656346E-4	0.03
18	659632	G	C	18	659632	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.06635945492274E-4	0.024
18	659632	G	T	18	659632	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.14691292864967E-4	0.054
18	659633	T	A	18	659633	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.30675630514419	0.49
18	659633	T	C	18	659633	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	9.86111795351087E-4	0.046
18	659633	T	G	18	659633	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.225007615675284	0.456
18	659634	T	A	18	659634	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0528396477327159	0.34
18	659634	T	C	18	659634	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.77978745885032E-4	0.02
18	659634	T	G	18	659634	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0409637941085825	0.326
18	659635	T	A	18	659635	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.898996111747229	0.672
18	659635	T	C	18	659635	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00193675925546973	0.08
18	659635	T	G	18	659635	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.944287061448914	0.7
18	659636	T	A	18	659636	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.831597080175183	0.6
18	659636	T	C	18	659636	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0246612414355367	0.258
18	659636	T	G	18	659636	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.91505233508937	0.622
18	659637	T	A	18	659637	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	7.80166924842177E-5	0.016
18	659637	T	C	18	659637	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.60617531801811E-5	0.022
18	659637	T	G	18	659637	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.15693172930611E-4	0.016
18	659638	C	A	18	659638	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.985043388151754	0.778
18	659638	C	G	18	659638	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999117377167896	0.708
18	659638	C	T	18	659638	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.019386768243788	0.23
18	659639	A	C	18	659639	y	y	splicing	TYMS(NM_001071:exon2:c.206-2A>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.206-2A>C;ENST00000323224:exon2:c.206-2A>C)	.	.	0.999965995344028	0.948
18	659639	A	G	18	659639	y	y	splicing	TYMS(NM_001071:exon2:c.206-2A>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.206-2A>G;ENST00000323224:exon2:c.206-2A>G)	.	.	0.999965995344028	0.936
18	659639	A	T	18	659639	y	y	splicing	TYMS(NM_001071:exon2:c.206-2A>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.206-2A>T;ENST00000323224:exon2:c.206-2A>T)	.	.	0.999965995344028	0.952
18	659640	G	A	18	659640	y	y	splicing	TYMS(NM_001071:exon2:c.206-1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.206-1G>A;ENST00000323224:exon2:c.206-1G>A)	.	.	0.999957750071759	0.936
18	659640	G	C	18	659640	y	y	splicing	TYMS(NM_001071:exon2:c.206-1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.206-1G>C;ENST00000323224:exon2:c.206-1G>C)	.	.	0.999957750071759	0.94
18	659640	G	T	18	659640	y	y	splicing	TYMS(NM_001071:exon2:c.206-1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.206-1G>T;ENST00000323224:exon2:c.206-1G>T)	.	.	0.999957750071759	0.94
18	659641	A	C	18	659641	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.A206C:p.D69A;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.A206C:p.D69A;ENSG00000176890:ENST00000323224:exon2:c.A206C:p.D69A;	0.00175131524525064	0.072
18	659641	A	G	18	659641	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.A206G:p.D69G;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.A206G:p.D69G;ENSG00000176890:ENST00000323224:exon2:c.A206G:p.D69G;	3.09881628405834E-4	0.014
18	659641	A	T	18	659641	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.A206T:p.D69V;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.A206T:p.D69V;ENSG00000176890:ENST00000323224:exon2:c.A206T:p.D69V;	0.00797592657772065	0.184
18	659642	T	A	18	659642	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.T207A:p.D69E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.T207A:p.D69E;ENSG00000176890:ENST00000323224:exon2:c.T207A:p.D69E;	4.57928997024232E-4	0.084
18	659642	T	C	18	659642	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon2:c.T207C:p.D69D;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.T207C:p.D69D;ENSG00000176890:ENST00000323224:exon2:c.T207C:p.D69D;	9.97300428031137E-4	0.096
18	659642	T	G	18	659642	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.T207G:p.D69E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.T207G:p.D69E;ENSG00000176890:ENST00000323224:exon2:c.T207G:p.D69E;	8.34111759814449E-4	0.068
18	659712	A	C	18	659712	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.A277C:p.K93Q;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.A277C:p.K93Q;ENSG00000176890:ENST00000323224:exon2:c.A277C:p.K93Q;	0.830859123621159	0.854
18	659712	A	G	18	659712	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.A277G:p.K93E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.A277G:p.K93E;ENSG00000176890:ENST00000323224:exon2:c.A277G:p.K93E;	0.830859123621159	0.846
18	659712	A	T	18	659712	y	y	exonic	TYMS	stopgain SNV	TYMS:NM_001071:exon2:c.A277T:p.K93X;	exonic	ENSG00000176890	stopgain SNV	ENSG00000176890:ENST00000323274:exon2:c.A277T:p.K93X;ENSG00000176890:ENST00000323224:exon2:c.A277T:p.K93X;	0.997716112597085	0.88
18	659713	A	C	18	659713	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.A278C:p.K93T;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.A278C:p.K93T;ENSG00000176890:ENST00000323224:exon2:c.A278C:p.K93T;	0.995823296002929	0.882
18	659713	A	G	18	659713	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.A278G:p.K93R;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.A278G:p.K93R;ENSG00000176890:ENST00000323224:exon2:c.A278G:p.K93R;	0.974632768109385	0.684
18	659713	A	T	18	659713	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.A278T:p.K93M;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.A278T:p.K93M;ENSG00000176890:ENST00000323224:exon2:c.A278T:p.K93M;	0.998729197266348	0.964
18	659714	G	A	18	659714	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon2:c.G279A:p.K93K;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.G279A:p.K93K;ENSG00000176890:ENST00000323224:exon2:c.G279A:p.K93K;	0.999989163774044	0.998
18	659714	G	C	18	659714	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.G279C:p.K93N;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.G279C:p.K93N;ENSG00000176890:ENST00000323224:exon2:c.G279C:p.K93N;	0.99999706064642	1.0
18	659714	G	T	18	659714	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon2:c.G279T:p.K93N;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon2:c.G279T:p.K93N;ENSG00000176890:ENST00000323224:exon2:c.G279T:p.K93N;	0.999982477787124	1.0
18	659715	G	A	18	659715	y	y	splicing	TYMS(NM_001071:exon2:c.279+1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.279+1G>A;ENST00000323224:exon2:c.279+1G>A)	.	.	0.999981760802075	0.938
18	659715	G	C	18	659715	y	y	splicing	TYMS(NM_001071:exon2:c.279+1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.279+1G>C;ENST00000323224:exon2:c.279+1G>C)	.	.	0.999981760802075	0.938
18	659715	G	T	18	659715	y	y	splicing	TYMS(NM_001071:exon2:c.279+1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.279+1G>T;ENST00000323224:exon2:c.279+1G>T)	.	.	0.999981760802075	0.938
18	659716	T	A	18	659716	y	y	splicing	TYMS(NM_001071:exon2:c.279+2T>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.279+2T>A;ENST00000323224:exon2:c.279+2T>A)	.	.	0.999989917668626	0.926
18	659716	T	C	18	659716	y	y	splicing	TYMS(NM_001071:exon2:c.279+2T>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.279+2T>C;ENST00000323224:exon2:c.279+2T>C)	.	.	0.988809971481602	0.732
18	659716	T	G	18	659716	y	y	splicing	TYMS(NM_001071:exon2:c.279+2T>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon2:c.279+2T>G;ENST00000323224:exon2:c.279+2T>G)	.	.	0.999989917668626	0.926
18	659717	A	C	18	659717	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999855751484787	0.956
18	659717	A	G	18	659717	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.995980312474713	0.792
18	659717	A	T	18	659717	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999447597028091	0.928
18	659718	A	C	18	659718	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.140382429686776	0.4
18	659718	A	G	18	659718	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.442055325636619	0.526
18	659718	A	T	18	659718	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.456111276287282	0.37
18	659719	A	C	18	659719	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.78365030793321E-4	0.012
18	659719	A	G	18	659719	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	8.23946126080616E-5	0.01
18	659719	A	T	18	659719	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.166432389282E-4	0.01
18	659720	G	A	18	659720	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	5.49286456447838E-5	0.0
18	659720	G	C	18	659720	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	7.26093209062415E-5	0.0
18	659720	G	T	18	659720	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.81082832914109E-5	0.0
18	659721	A	C	18	659721	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.49303745082892E-4	0.012
18	659721	A	G	18	659721	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.30178398569806E-4	0.0
18	659721	A	T	18	659721	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	7.91241105720904E-4	0.036
18	659722	A	C	18	659722	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.91126783965457E-4	0.016
18	659722	A	G	18	659722	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.91126783965457E-4	0.016
18	659722	A	T	18	659722	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.98542968807727E-4	0.02
18	662134	C	A	18	662134	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.24739847305323E-4	0.018
18	662134	C	G	18	662134	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.27304280631871E-4	0.012
18	662134	C	T	18	662134	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.92075021401332E-5	0.006
18	662135	A	C	18	662135	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.81829945220082E-6	0.0
18	662135	A	G	18	662135	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	7.17200297530825E-6	0.006
18	662135	A	T	18	662135	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.47226774734786E-5	0.016
18	662136	T	A	18	662136	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00361675864628014	0.162
18	662136	T	C	18	662136	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.66943403678087E-5	0.002
18	662136	T	G	18	662136	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999755137625212	0.972
18	662137	C	A	18	662137	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00379153083348661	0.136
18	662137	C	G	18	662137	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00292865464169122	0.072
18	662137	C	T	18	662137	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	8.039070207027E-5	0.008
18	662138	T	A	18	662138	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00299593615923471	0.16
18	662138	T	C	18	662138	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.22235687810745E-4	0.008
18	662138	T	G	18	662138	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	8.71267058293403E-4	0.092
18	662139	C	A	18	662139	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	7.28632928183032E-5	0.012
18	662139	C	G	18	662139	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	7.08518589207634E-5	0.006
18	662139	C	T	18	662139	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.43198922758487E-5	0.002
18	662140	T	A	18	662140	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00994342495686356	0.136
18	662140	T	C	18	662140	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.33388058151567E-4	0.004
18	662140	T	G	18	662140	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0124861275994536	0.166
18	662141	T	A	18	662141	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0298339856686894	0.216
18	662141	T	C	18	662141	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	9.28236088656674E-4	0.014
18	662141	T	G	18	662141	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0431557673687476	0.258
18	662142	C	A	18	662142	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.76230412222854E-5	0.0
18	662142	C	G	18	662142	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.76230412222854E-5	0.0
18	662142	C	T	18	662142	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.76230412222854E-5	0.0
18	662143	C	A	18	662143	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.438828480508305	0.504
18	662143	C	G	18	662143	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999840757882638	0.982
18	662143	C	T	18	662143	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	5.67794332057468E-4	0.01
18	662144	A	C	18	662144	y	y	splicing	TYMS(NM_001071:exon3:c.280-2A>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.280-2A>C;ENST00000323224:exon3:c.280-2A>C)	.	.	0.999988247793601	0.92
18	662144	A	G	18	662144	y	y	splicing	TYMS(NM_001071:exon3:c.280-2A>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.280-2A>G;ENST00000323224:exon3:c.280-2A>G)	.	.	0.999988247793601	0.924
18	662144	A	T	18	662144	y	y	splicing	TYMS(NM_001071:exon3:c.280-2A>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.280-2A>T;ENST00000323224:exon3:c.280-2A>T)	.	.	0.999988247793601	0.926
18	662145	G	A	18	662145	y	y	splicing	TYMS(NM_001071:exon3:c.280-1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.280-1G>A;ENST00000323224:exon3:c.280-1G>A)	.	.	0.999986675681007	0.934
18	662145	G	C	18	662145	y	y	splicing	TYMS(NM_001071:exon3:c.280-1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.280-1G>C;ENST00000323224:exon3:c.280-1G>C)	.	.	0.999986675681007	0.932
18	662145	G	T	18	662145	y	y	splicing	TYMS(NM_001071:exon3:c.280-1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.280-1G>T;ENST00000323224:exon3:c.280-1G>T)	.	.	0.999986675681007	0.932
18	662146	G	A	18	662146	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.G280A:p.G94R;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.G280A:p.G94R;ENSG00000176890:ENST00000323224:exon3:c.G280A:p.G94R;	0.998874318632309	0.944
18	662146	G	C	18	662146	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.G280C:p.G94R;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.G280C:p.G94R;ENSG00000176890:ENST00000323224:exon3:c.G280C:p.G94R;	0.999724601441461	0.968
18	662146	G	T	18	662146	y	y	exonic	TYMS	stopgain SNV	TYMS:NM_001071:exon3:c.G280T:p.G94X;	exonic	ENSG00000176890	stopgain SNV	ENSG00000176890:ENST00000323274:exon3:c.G280T:p.G94X;ENSG00000176890:ENST00000323224:exon3:c.G280T:p.G94X;	0.999591572467598	0.996
18	662147	G	A	18	662147	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.G281A:p.G94E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.G281A:p.G94E;ENSG00000176890:ENST00000323224:exon3:c.G281A:p.G94E;	0.986002238684822	0.838
18	662147	G	C	18	662147	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.G281C:p.G94A;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.G281C:p.G94A;ENSG00000176890:ENST00000323224:exon3:c.G281C:p.G94A;	0.986688354021819	0.862
18	662147	G	T	18	662147	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.G281T:p.G94V;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.G281T:p.G94V;ENSG00000176890:ENST00000323224:exon3:c.G281T:p.G94V;	0.977545740737978	0.902
18	662318	C	A	18	662318	y	y	exonic	TYMS	stopgain SNV	TYMS:NM_001071:exon3:c.C452A:p.S151X;	exonic	ENSG00000176890	stopgain SNV	ENSG00000176890:ENST00000323274:exon3:c.C452A:p.S151X;ENSG00000176890:ENST00000323224:exon3:c.C452A:p.S151X;	0.951476907618349	0.718
18	662318	C	G	18	662318	y	y	exonic	TYMS	stopgain SNV	TYMS:NM_001071:exon3:c.C452G:p.S151X;	exonic	ENSG00000176890	stopgain SNV	ENSG00000176890:ENST00000323274:exon3:c.C452G:p.S151X;ENSG00000176890:ENST00000323224:exon3:c.C452G:p.S151X;	0.854636883800062	0.626
18	662318	C	T	18	662318	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.C452T:p.S151L;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.C452T:p.S151L;ENSG00000176890:ENST00000323224:exon3:c.C452T:p.S151L;	0.645259553041461	0.72
18	662319	A	C	18	662319	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon3:c.A453C:p.S151S;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.A453C:p.S151S;ENSG00000176890:ENST00000323224:exon3:c.A453C:p.S151S;	0.0143661523186753	0.376
18	662319	A	G	18	662319	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon3:c.A453G:p.S151S;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.A453G:p.S151S;ENSG00000176890:ENST00000323224:exon3:c.A453G:p.S151S;	0.0824834429162274	0.318
18	662319	A	T	18	662319	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon3:c.A453T:p.S151S;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.A453T:p.S151S;ENSG00000176890:ENST00000323224:exon3:c.A453T:p.S151S;	0.0502629829488894	0.39
18	662320	G	A	18	662320	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.G454A:p.D152N;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.G454A:p.D152N;ENSG00000176890:ENST00000323224:exon3:c.G454A:p.D152N;	0.999937676732049	0.81
18	662320	G	C	18	662320	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.G454C:p.D152H;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.G454C:p.D152H;ENSG00000176890:ENST00000323224:exon3:c.G454C:p.D152H;	0.999977356704158	0.998
18	662320	G	T	18	662320	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon3:c.G454T:p.D152Y;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon3:c.G454T:p.D152Y;ENSG00000176890:ENST00000323224:exon3:c.G454T:p.D152Y;	0.999925235757182	0.988
18	662321	G	A	18	662321	y	y	splicing	TYMS(NM_001071:exon3:c.454+1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.454+1G>A;ENST00000323224:exon3:c.454+1G>A)	.	.	0.999960200702261	0.934
18	662321	G	C	18	662321	y	y	splicing	TYMS(NM_001071:exon3:c.454+1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.454+1G>C;ENST00000323224:exon3:c.454+1G>C)	.	.	0.999945530492988	0.908
18	662321	G	T	18	662321	y	y	splicing	TYMS(NM_001071:exon3:c.454+1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.454+1G>T;ENST00000323224:exon3:c.454+1G>T)	.	.	0.999958812450268	0.92
18	662322	T	A	18	662322	y	y	splicing	TYMS(NM_001071:exon3:c.454+2T>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.454+2T>A;ENST00000323224:exon3:c.454+2T>A)	.	.	0.999971317418422	0.894
18	662322	T	C	18	662322	y	y	splicing	TYMS(NM_001071:exon3:c.454+2T>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.454+2T>C;ENST00000323224:exon3:c.454+2T>C)	.	.	0.999769873700371	0.812
18	662322	T	G	18	662322	y	y	splicing	TYMS(NM_001071:exon3:c.454+2T>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon3:c.454+2T>G;ENST00000323224:exon3:c.454+2T>G)	.	.	0.999971317418422	0.886
18	662323	G	A	18	662323	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.48002400814016E-5	0.0
18	662323	G	C	18	662323	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0175334662458412	0.26
18	662323	G	T	18	662323	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.0192776431069262	0.284
18	662324	A	C	18	662324	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.591346068633155	0.452
18	662324	A	G	18	662324	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.871637261932057	0.578
18	662324	A	T	18	662324	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.902583090493814	0.582
18	662325	G	A	18	662325	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.94651617755785	0.64
18	662325	G	C	18	662325	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.924262386897358	0.532
18	662325	G	T	18	662325	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999158009502714	0.724
18	662326	G	A	18	662326	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.63390951166551E-4	0.172
18	662326	G	C	18	662326	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.93532652681963E-4	0.104
18	662326	G	T	18	662326	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.18563946186225E-5	0.06
18	662327	A	C	18	662327	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	4.95830062569454E-5	0.012
18	662327	A	G	18	662327	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	8.02323555614525E-5	0.008
18	662327	A	T	18	662327	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	7.79245727932663E-5	0.0
18	662328	G	A	18	662328	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.47413882681639E-5	0.0
18	662328	G	C	18	662328	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	4.29095927746637E-5	0.0
18	662328	G	T	18	662328	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	5.67553546471641E-5	0.0
18	669060	A	C	18	669060	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.75134432142249E-4	0.0
18	669060	A	G	18	669060	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.07096725466403E-4	0.004
18	669060	A	T	18	669060	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.93438709338878E-4	0.024
18	669061	C	A	18	669061	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.31083418064717E-4	0.07
18	669061	C	G	18	669061	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999883555162637	0.994
18	669061	C	T	18	669061	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.76821814383543E-5	0.0
18	669062	A	C	18	669062	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.99631197343012E-4	0.01
18	669062	A	G	18	669062	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.32079306928492E-4	0.004
18	669062	A	T	18	669062	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.69336657131178E-4	0.018
18	669063	A	C	18	669063	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	8.18429645671592E-5	0.002
18	669063	A	G	18	669063	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.987524224528693	0.978
18	669063	A	T	18	669063	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.41795582985821E-4	0.022
18	669064	T	A	18	669064	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.794983224982905	0.43
18	669064	T	C	18	669064	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00493089128035242	0.09
18	669064	T	G	18	669064	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999920128107128	0.984
18	669065	T	A	18	669065	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.198124035469853	0.25
18	669065	T	C	18	669065	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	8.37468299338276E-5	0.108
18	669065	T	G	18	669065	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.108598888448996	0.254
18	669066	C	A	18	669066	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00863963047921982	0.158
18	669066	C	G	18	669066	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00944725616474302	0.162
18	669066	C	T	18	669066	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.93008933363103E-5	0.004
18	669067	T	A	18	669067	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.308326703166616	0.512
18	669067	T	C	18	669067	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.00454421445910933	0.18
18	669067	T	G	18	669067	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.891145627777024	0.594
18	669068	A	C	18	669068	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	4.54404724015672E-5	0.002
18	669068	A	G	18	669068	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	4.38943534138441E-4	0.092
18	669068	A	T	18	669068	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.03924124653393E-4	0.002
18	669069	C	A	18	669069	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.9776238018739	0.796
18	669069	C	G	18	669069	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	0.999728681691846	0.83
18	669069	C	T	18	669069	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	5.12389966125193E-4	0.072
18	669070	A	C	18	669070	y	y	splicing	TYMS(NM_001071:exon4:c.455-2A>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.455-2A>C;ENST00000323250:exon2:c.206-2A>C)	.	.	0.9999784785434	0.94
18	669070	A	G	18	669070	y	y	splicing	TYMS(NM_001071:exon4:c.455-2A>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.455-2A>G;ENST00000323250:exon2:c.206-2A>G)	.	.	0.9999784785434	0.94
18	669070	A	T	18	669070	y	y	splicing	TYMS(NM_001071:exon4:c.455-2A>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.455-2A>T;ENST00000323250:exon2:c.206-2A>T)	.	.	0.999978278263889	0.938
18	669071	G	A	18	669071	y	y	splicing	TYMS(NM_001071:exon4:c.455-1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.455-1G>A;ENST00000323250:exon2:c.206-1G>A)	.	.	0.99994568797423	0.918
18	669071	G	C	18	669071	y	y	splicing	TYMS(NM_001071:exon4:c.455-1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.455-1G>C;ENST00000323250:exon2:c.206-1G>C)	.	.	0.99994568797423	0.922
18	669071	G	T	18	669071	y	y	splicing	TYMS(NM_001071:exon4:c.455-1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.455-1G>T;ENST00000323250:exon2:c.206-1G>T)	.	.	0.99994568797423	0.918
18	669072	A	C	18	669072	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.A455C:p.D152A;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.A455C:p.D152A;ENSG00000176890:ENST00000323250:exon2:c.A206C:p.D69A;	0.75081565026199	0.664
18	669072	A	G	18	669072	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.A455G:p.D152G;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.A455G:p.D152G;ENSG00000176890:ENST00000323250:exon2:c.A206G:p.D69G;	0.366206515599133	0.492
18	669072	A	T	18	669072	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.A455T:p.D152V;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.A455T:p.D152V;ENSG00000176890:ENST00000323250:exon2:c.A206T:p.D69V;	0.675210448973975	0.698
18	669073	T	A	18	669073	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.T456A:p.D152E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.T456A:p.D152E;ENSG00000176890:ENST00000323250:exon2:c.T207A:p.D69E;	0.0243960651312425	0.1
18	669073	T	C	18	669073	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon4:c.T456C:p.D152D;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.T456C:p.D152D;ENSG00000176890:ENST00000323250:exon2:c.T207C:p.D69D;	0.00845924523606535	0.176
18	669073	T	G	18	669073	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.T456G:p.D152E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.T456G:p.D152E;ENSG00000176890:ENST00000323250:exon2:c.T207G:p.D69E;	0.0315043920958938	0.16
18	669171	G	A	18	669171	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.G554A:p.R185K;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.G554A:p.R185K;ENSG00000176890:ENST00000323250:exon2:c.G305A:p.R102K;	3.20862408805592E-5	0.028
18	669171	G	C	18	669171	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.G554C:p.R185T;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.G554C:p.R185T;ENSG00000176890:ENST00000323250:exon2:c.G305C:p.R102T;	2.3994564522384E-5	0.01
18	669171	G	T	18	669171	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.G554T:p.R185I;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.G554T:p.R185I;ENSG00000176890:ENST00000323250:exon2:c.G305T:p.R102I;	0.00125327371413647	0.05
18	669172	A	C	18	669172	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.A555C:p.R185S;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.A555C:p.R185S;ENSG00000176890:ENST00000323250:exon2:c.A306C:p.R102S;	0.999251409661379	0.022
18	669172	A	G	18	669172	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon4:c.A555G:p.R185R;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.A555G:p.R185R;ENSG00000176890:ENST00000323250:exon2:c.A306G:p.R102R;	0.999313284440832	0.036
18	669172	A	T	18	669172	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.A555T:p.R185S;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.A555T:p.R185S;ENSG00000176890:ENST00000323250:exon2:c.A306T:p.R102S;	0.998185824605156	0.022
18	669173	G	A	18	669173	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.G556A:p.D186N;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.G556A:p.D186N;ENSG00000176890:ENST00000323250:exon2:c.G307A:p.D103N;	0.999987490887247	0.77
18	669173	G	C	18	669173	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.G556C:p.D186H;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.G556C:p.D186H;ENSG00000176890:ENST00000323250:exon2:c.G307C:p.D103H;	0.999991667610916	0.686
18	669173	G	T	18	669173	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon4:c.G556T:p.D186Y;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon4:c.G556T:p.D186Y;ENSG00000176890:ENST00000323250:exon2:c.G307T:p.D103Y;	0.999984232694708	0.69
18	669174	G	A	18	669174	y	y	splicing	TYMS(NM_001071:exon4:c.556+1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.556+1G>A;ENST00000323250:exon2:c.307+1G>A)	.	.	0.999791347735344	0.174
18	669174	G	C	18	669174	y	y	splicing	TYMS(NM_001071:exon4:c.556+1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.556+1G>C;ENST00000323250:exon2:c.307+1G>C)	.	.	0.999791347735344	0.092
18	669174	G	T	18	669174	y	y	splicing	TYMS(NM_001071:exon4:c.556+1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.556+1G>T;ENST00000323250:exon2:c.307+1G>T)	.	.	0.999791347735344	0.15
18	669175	T	A	18	669175	y	y	splicing	TYMS(NM_001071:exon4:c.556+2T>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.556+2T>A;ENST00000323250:exon2:c.307+2T>A)	.	.	0.999953889214629	0.04
18	669175	T	C	18	669175	y	y	splicing	TYMS(NM_001071:exon4:c.556+2T>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.556+2T>C;ENST00000323250:exon2:c.307+2T>C)	.	.	0.996470288373018	0.042
18	669175	T	G	18	669175	y	y	splicing	TYMS(NM_001071:exon4:c.556+2T>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon4:c.556+2T>G;ENST00000323250:exon2:c.307+2T>G)	.	.	0.999963593420465	0.042
18	669176	T	A	18	669176	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.18760020374166E-5	0.034
18	669176	T	C	18	669176	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.26226271898836E-5	0.0
18	669176	T	G	18	669176	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.32751585076403E-5	0.0
18	669177	G	A	18	669177	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	9.1528864574583E-5	0.006
18	669177	G	C	18	669177	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.552751562108E-5	0.004
18	669177	G	T	18	669177	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.552751562108E-5	0.004
18	669178	A	C	18	669178	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	4.87902679840833E-4	0.006
18	669178	A	G	18	669178	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.27685882981603E-4	0.006
18	669178	A	T	18	669178	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.0395324414432E-4	0.016
18	669179	A	C	18	669179	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.6388521193598E-4	0.0
18	669179	A	G	18	669179	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	4.1662010152577E-5	0.0
18	669179	A	T	18	669179	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.57723735371331E-5	0.0
18	669180	A	C	18	669180	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.78864525412067E-5	0.0
18	669180	A	G	18	669180	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	3.78864525412067E-5	0.0
18	669180	A	T	18	669180	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	4.64290294403673E-5	0.0
18	669181	G	A	18	669181	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	1.44301627713679E-4	0.006
18	669181	G	C	18	669181	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	6.26637337024583E-5	0.006
18	669181	G	T	18	669181	y	y	intronic	TYMS	.	.	intronic	ENSG00000176890	.	.	2.30554197423107E-4	0.006
18	670680	C	A	18	670680	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0012911147940889	0.058
18	670680	C	G	18	670680	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	2.34318843794403E-4	0.03
18	670680	C	T	18	670680	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	4.00882093215353E-4	0.022
18	670681	T	A	18	670681	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.999901651413908	0.944
18	670681	T	C	18	670681	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.00297602837286073	0.118
18	670681	T	G	18	670681	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.352370203259305	0.518
18	670682	G	A	18	670682	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.999018540856291	0.99
18	670682	G	C	18	670682	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	7.93635593438786E-5	0.016
18	670682	G	T	18	670682	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	9.77247259307524E-5	0.008
18	670683	G	A	18	670683	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	9.10340537475044E-5	0.004
18	670683	G	C	18	670683	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	4.08802802279601E-5	0.004
18	670683	G	T	18	670683	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	8.49702646665041E-5	0.004
18	670684	T	A	18	670684	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0039570379528346	0.044
18	670684	T	C	18	670684	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.01578748569253E-5	0.004
18	670684	T	G	18	670684	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	4.83161291928607E-4	0.05
18	670685	T	A	18	670685	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.781156064387069	0.538
18	670685	T	C	18	670685	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	7.4720228130805E-5	0.04
18	670685	T	G	18	670685	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.185610102545256	0.346
18	670686	C	A	18	670686	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0106469990995265	0.232
18	670686	C	G	18	670686	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0155224227562754	0.244
18	670686	C	T	18	670686	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	5.99569027881256E-5	0.07
18	670687	C	A	18	670687	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.00202208025783061	0.104
18	670687	C	G	18	670687	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.00228110083916994	0.132
18	670687	C	T	18	670687	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	5.97141768277634E-5	0.046
18	670688	T	A	18	670688	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.78633700263518E-5	0.0
18	670688	T	C	18	670688	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.25842259357629E-5	0.024
18	670688	T	G	18	670688	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	2.33669225954396E-5	0.012
18	670689	C	A	18	670689	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.937869216827222	0.752
18	670689	C	G	18	670689	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.999462459605047	0.942
18	670689	C	T	18	670689	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.6971595168223E-4	0.096
18	670690	A	C	18	670690	y	y	splicing	TYMS(NM_001071:exon5:c.557-2A>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.557-2A>C;ENST00000323224:exon4:c.455-2A>C;ENST00000323250:exon3:c.308-2A>C)	.	.	0.999946188727699	0.914
18	670690	A	G	18	670690	y	y	splicing	TYMS(NM_001071:exon5:c.557-2A>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.557-2A>G;ENST00000323224:exon4:c.455-2A>G;ENST00000323250:exon3:c.308-2A>G)	.	.	0.999946188727699	0.918
18	670690	A	T	18	670690	y	y	splicing	TYMS(NM_001071:exon5:c.557-2A>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.557-2A>T;ENST00000323224:exon4:c.455-2A>T;ENST00000323250:exon3:c.308-2A>T)	.	.	0.999946188727699	0.948
18	670691	G	A	18	670691	y	y	splicing	TYMS(NM_001071:exon5:c.557-1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.557-1G>A;ENST00000323224:exon4:c.455-1G>A;ENST00000323250:exon3:c.308-1G>A)	.	.	0.999938422912956	0.93
18	670691	G	C	18	670691	y	y	splicing	TYMS(NM_001071:exon5:c.557-1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.557-1G>C;ENST00000323224:exon4:c.455-1G>C;ENST00000323250:exon3:c.308-1G>C)	.	.	0.999938422912956	0.934
18	670691	G	T	18	670691	y	y	splicing	TYMS(NM_001071:exon5:c.557-1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.557-1G>T;ENST00000323224:exon4:c.455-1G>T;ENST00000323250:exon3:c.308-1G>T)	.	.	0.999938422912956	0.932
18	670692	A	C	18	670692	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.A557C:p.D186A;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.A557C:p.D186A;ENSG00000176890:ENST00000323224:exon4:c.A455C:p.D152A;ENSG00000176890:ENST00000323250:exon3:c.A308C:p.D103A;	0.563952766940016	0.626
18	670692	A	G	18	670692	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.A557G:p.D186G;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.A557G:p.D186G;ENSG00000176890:ENST00000323224:exon4:c.A455G:p.D152G;ENSG00000176890:ENST00000323250:exon3:c.A308G:p.D103G;	0.762241569821451	0.632
18	670692	A	T	18	670692	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.A557T:p.D186V;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.A557T:p.D186V;ENSG00000176890:ENST00000323224:exon4:c.A455T:p.D152V;ENSG00000176890:ENST00000323250:exon3:c.A308T:p.D103V;	0.762782195123741	0.63
18	670693	T	A	18	670693	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.T558A:p.D186E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.T558A:p.D186E;ENSG00000176890:ENST00000323224:exon4:c.T456A:p.D152E;ENSG00000176890:ENST00000323250:exon3:c.T309A:p.D103E;	5.89171027224355E-5	0.136
18	670693	T	C	18	670693	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon5:c.T558C:p.D186D;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.T558C:p.D186D;ENSG00000176890:ENST00000323224:exon4:c.T456C:p.D152D;ENSG00000176890:ENST00000323250:exon3:c.T309C:p.D103D;	8.8616209688283E-4	0.068
18	670693	T	G	18	670693	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.T558G:p.D186E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.T558G:p.D186E;ENSG00000176890:ENST00000323224:exon4:c.T456G:p.D152E;ENSG00000176890:ENST00000323250:exon3:c.T309G:p.D103E;	1.65121382062256E-4	0.17
18	670865	A	C	18	670865	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.A730C:p.K244Q;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.A730C:p.K244Q;ENSG00000176890:ENST00000323224:exon4:c.A628C:p.K210Q;ENSG00000176890:ENST00000323250:exon3:c.A481C:p.K161Q;	6.88864756717333E-4	0.004
18	670865	A	G	18	670865	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.A730G:p.K244E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.A730G:p.K244E;ENSG00000176890:ENST00000323224:exon4:c.A628G:p.K210E;ENSG00000176890:ENST00000323250:exon3:c.A481G:p.K161E;	0.00309599489472446	0.164
18	670865	A	T	18	670865	y	y	exonic	TYMS	stopgain SNV	TYMS:NM_001071:exon5:c.A730T:p.K244X;	exonic	ENSG00000176890	stopgain SNV	ENSG00000176890:ENST00000323274:exon5:c.A730T:p.K244X;ENSG00000176890:ENST00000323224:exon4:c.A628T:p.K210X;ENSG00000176890:ENST00000323250:exon3:c.A481T:p.K161X;	0.977449569850067	0.722
18	670866	A	C	18	670866	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.A731C:p.K244T;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.A731C:p.K244T;ENSG00000176890:ENST00000323224:exon4:c.A629C:p.K210T;ENSG00000176890:ENST00000323250:exon3:c.A482C:p.K161T;	0.933658437882958	0.632
18	670866	A	G	18	670866	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.A731G:p.K244R;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.A731G:p.K244R;ENSG00000176890:ENST00000323224:exon4:c.A629G:p.K210R;ENSG00000176890:ENST00000323250:exon3:c.A482G:p.K161R;	0.990903239754395	0.77
18	670866	A	T	18	670866	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.A731T:p.K244M;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.A731T:p.K244M;ENSG00000176890:ENST00000323224:exon4:c.A629T:p.K210M;ENSG00000176890:ENST00000323250:exon3:c.A482T:p.K161M;	0.999804089795782	0.994
18	670867	G	A	18	670867	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon5:c.G732A:p.K244K;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.G732A:p.K244K;ENSG00000176890:ENST00000323224:exon4:c.G630A:p.K210K;ENSG00000176890:ENST00000323250:exon3:c.G483A:p.K161K;	0.999965038173858	0.998
18	670867	G	C	18	670867	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.G732C:p.K244N;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.G732C:p.K244N;ENSG00000176890:ENST00000323224:exon4:c.G630C:p.K210N;ENSG00000176890:ENST00000323250:exon3:c.G483C:p.K161N;	0.99999265240351	1.0
18	670867	G	T	18	670867	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon5:c.G732T:p.K244N;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon5:c.G732T:p.K244N;ENSG00000176890:ENST00000323224:exon4:c.G630T:p.K210N;ENSG00000176890:ENST00000323250:exon3:c.G483T:p.K161N;	0.999954815888168	0.996
18	670868	G	A	18	670868	y	y	splicing	TYMS(NM_001071:exon5:c.732+1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.732+1G>A;ENST00000323224:exon4:c.630+1G>A;ENST00000323250:exon3:c.483+1G>A)	.	.	0.999938422912956	0.966
18	670868	G	C	18	670868	y	y	splicing	TYMS(NM_001071:exon5:c.732+1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.732+1G>C;ENST00000323224:exon4:c.630+1G>C;ENST00000323250:exon3:c.483+1G>C)	.	.	0.999938990645747	0.964
18	670868	G	T	18	670868	y	y	splicing	TYMS(NM_001071:exon5:c.732+1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.732+1G>T;ENST00000323224:exon4:c.630+1G>T;ENST00000323250:exon3:c.483+1G>T)	.	.	0.999938990645747	0.966
18	670869	T	A	18	670869	y	y	splicing	TYMS(NM_001071:exon5:c.732+2T>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.732+2T>A;ENST00000323224:exon4:c.630+2T>A;ENST00000323250:exon3:c.483+2T>A)	.	.	0.999978156327223	0.956
18	670869	T	C	18	670869	y	y	splicing	TYMS(NM_001071:exon5:c.732+2T>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.732+2T>C;ENST00000323224:exon4:c.630+2T>C;ENST00000323250:exon3:c.483+2T>C)	.	.	0.999886734760817	0.912
18	670869	T	G	18	670869	y	y	splicing	TYMS(NM_001071:exon5:c.732+2T>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon5:c.732+2T>G;ENST00000323224:exon4:c.630+2T>G;ENST00000323250:exon3:c.483+2T>G)	.	.	0.999978156327223	0.954
18	670870	G	A	18	670870	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	4.00486104179869E-4	0.252
18	670870	G	C	18	670870	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0378619167027381	0.456
18	670870	G	T	18	670870	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0260489448679311	0.36
18	670871	G	A	18	670871	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.49075473944386E-4	0.13
18	670871	G	C	18	670871	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	2.71820872159529E-4	0.05
18	670871	G	T	18	670871	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	7.39155222925812E-4	0.054
18	670872	G	A	18	670872	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.999488890337578	0.782
18	670872	G	C	18	670872	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.999135694629544	0.864
18	670872	G	T	18	670872	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.999984968180721	0.94
18	670873	C	A	18	670873	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.52313494857686E-4	0.032
18	670873	C	G	18	670873	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	7.01112905044332E-4	0.106
18	670873	C	T	18	670873	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.86684035106252E-5	0.012
18	670874	T	A	18	670874	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.00116491426547665	0.024
18	670874	T	C	18	670874	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.00116491426547665	0.024
18	670874	T	G	18	670874	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	8.72872318312541E-4	0.018
18	670875	G	A	18	670875	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	4.79761833585086E-4	0.022
18	670875	G	C	18	670875	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.44225400957569E-4	0.0
18	670875	G	T	18	670875	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	4.79761833585086E-4	0.016
18	671368	C	A	18	671368	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.03814436030489E-4	0.022
18	671368	C	G	18	671368	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.43709631708614E-4	0.056
18	671368	C	T	18	671368	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.27219349862041E-5	0.004
18	671369	C	A	18	671369	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.997358025029645	0.884
18	671369	C	G	18	671369	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	4.67983318446321E-4	0.024
18	671369	C	T	18	671369	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.552751562108E-5	0.004
18	671370	G	A	18	671370	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.99909123080787	0.966
18	671370	G	C	18	671370	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.80595323877498E-5	0.024
18	671370	G	T	18	671370	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.80595323877498E-5	0.024
18	671371	G	A	18	671371	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.988585832406196	0.934
18	671371	G	C	18	671371	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	4.97864243205666E-5	0.01
18	671371	G	T	18	671371	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	5.37205498882069E-5	0.034
18	671372	G	A	18	671372	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	2.49143926798654E-4	0.012
18	671372	G	C	18	671372	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.07620641825897E-5	0.0
18	671372	G	T	18	671372	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.07620641825897E-5	0.022
18	671373	T	A	18	671373	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0231133176738733	0.44
18	671373	T	C	18	671373	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	5.74854401029659E-5	0.01
18	671373	T	G	18	671373	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0018992194191522	0.17
18	671374	T	A	18	671374	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.370719232610378	0.526
18	671374	T	C	18	671374	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	7.2153939604251E-5	0.046
18	671374	T	G	18	671374	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.171148079240004	0.48
18	671375	T	A	18	671375	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.957115451060831	0.686
18	671375	T	C	18	671375	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.00429298198193856	0.182
18	671375	T	G	18	671375	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.980393298627371	0.712
18	671376	A	C	18	671376	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.65835210679456E-4	0.046
18	671376	A	G	18	671376	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.30081862431568E-4	0.034
18	671376	A	T	18	671376	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.7600939674581E-4	0.018
18	671377	T	A	18	671377	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0184825591815276	0.33
18	671377	T	C	18	671377	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.19909671294817E-5	0.116
18	671377	T	G	18	671377	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.981575337492571	0.648
18	671378	A	C	18	671378	y	y	splicing	TYMS(NM_001071:exon6:c.733-2A>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.733-2A>C;ENST00000323224:exon5:c.631-2A>C;ENST00000323250:exon4:c.484-2A>C)	.	.	0.999988247793601	0.954
18	671378	A	G	18	671378	y	y	splicing	TYMS(NM_001071:exon6:c.733-2A>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.733-2A>G;ENST00000323224:exon5:c.631-2A>G;ENST00000323250:exon4:c.484-2A>G)	.	.	0.999988247793601	0.954
18	671378	A	T	18	671378	y	y	splicing	TYMS(NM_001071:exon6:c.733-2A>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.733-2A>T;ENST00000323224:exon5:c.631-2A>T;ENST00000323250:exon4:c.484-2A>T)	.	.	0.999988247793601	0.954
18	671379	G	A	18	671379	y	y	splicing	TYMS(NM_001071:exon6:c.733-1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.733-1G>A;ENST00000323224:exon5:c.631-1G>A;ENST00000323250:exon4:c.484-1G>A)	.	.	0.999990361384395	0.952
18	671379	G	C	18	671379	y	y	splicing	TYMS(NM_001071:exon6:c.733-1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.733-1G>C;ENST00000323224:exon5:c.631-1G>C;ENST00000323250:exon4:c.484-1G>C)	.	.	0.999990361384395	0.952
18	671379	G	T	18	671379	y	y	splicing	TYMS(NM_001071:exon6:c.733-1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.733-1G>T;ENST00000323224:exon5:c.631-1G>T;ENST00000323250:exon4:c.484-1G>T)	.	.	0.999990361384395	0.952
18	671380	C	A	18	671380	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.C733A:p.P245T;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.C733A:p.P245T;ENSG00000176890:ENST00000323224:exon5:c.C631A:p.P211T;ENSG00000176890:ENST00000323250:exon4:c.C484A:p.P162T;	0.993824108016147	0.934
18	671380	C	G	18	671380	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.C733G:p.P245A;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.C733G:p.P245A;ENSG00000176890:ENST00000323224:exon5:c.C631G:p.P211A;ENSG00000176890:ENST00000323250:exon4:c.C484G:p.P162A;	0.993733916693694	0.868
18	671380	C	T	18	671380	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.C733T:p.P245S;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.C733T:p.P245S;ENSG00000176890:ENST00000323224:exon5:c.C631T:p.P211S;ENSG00000176890:ENST00000323250:exon4:c.C484T:p.P162S;	0.993824108016147	0.922
18	671381	C	A	18	671381	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.C734A:p.P245Q;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.C734A:p.P245Q;ENSG00000176890:ENST00000323224:exon5:c.C632A:p.P211Q;ENSG00000176890:ENST00000323250:exon4:c.C485A:p.P162Q;	0.993824108016147	0.928
18	671381	C	G	18	671381	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.C734G:p.P245R;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.C734G:p.P245R;ENSG00000176890:ENST00000323224:exon5:c.C632G:p.P211R;ENSG00000176890:ENST00000323250:exon4:c.C485G:p.P162R;	0.993824108016147	0.926
18	671381	C	T	18	671381	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.C734T:p.P245L;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.C734T:p.P245L;ENSG00000176890:ENST00000323224:exon5:c.C632T:p.P211L;ENSG00000176890:ENST00000323250:exon4:c.C485T:p.P162L;	0.993824108016147	0.926
18	671449	C	A	18	671449	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.C802A:p.Q268K;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.C802A:p.Q268K;ENSG00000176890:ENST00000323224:exon5:c.C700A:p.Q234K;ENSG00000176890:ENST00000323250:exon4:c.C553A:p.Q185K;	0.993824108016147	0.934
18	671449	C	G	18	671449	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.C802G:p.Q268E;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.C802G:p.Q268E;ENSG00000176890:ENST00000323224:exon5:c.C700G:p.Q234E;ENSG00000176890:ENST00000323250:exon4:c.C553G:p.Q185E;	0.994463269283841	0.928
18	671449	C	T	18	671449	y	y	exonic	TYMS	stopgain SNV	TYMS:NM_001071:exon6:c.C802T:p.Q268X;	exonic	ENSG00000176890	stopgain SNV	ENSG00000176890:ENST00000323274:exon6:c.C802T:p.Q268X;ENSG00000176890:ENST00000323224:exon5:c.C700T:p.Q234X;ENSG00000176890:ENST00000323250:exon4:c.C553T:p.Q185X;	0.99833607469884	0.926
18	671450	A	C	18	671450	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.A803C:p.Q268P;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.A803C:p.Q268P;ENSG00000176890:ENST00000323224:exon5:c.A701C:p.Q234P;ENSG00000176890:ENST00000323250:exon4:c.A554C:p.Q185P;	0.991268035598796	0.848
18	671450	A	G	18	671450	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.A803G:p.Q268R;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.A803G:p.Q268R;ENSG00000176890:ENST00000323224:exon5:c.A701G:p.Q234R;ENSG00000176890:ENST00000323250:exon4:c.A554G:p.Q185R;	0.995074884365421	0.92
18	671450	A	T	18	671450	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.A803T:p.Q268L;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.A803T:p.Q268L;ENSG00000176890:ENST00000323224:exon5:c.A701T:p.Q234L;ENSG00000176890:ENST00000323250:exon4:c.A554T:p.Q185L;	0.991912894765249	0.746
18	671451	G	A	18	671451	y	y	exonic	TYMS	synonymous SNV	TYMS:NM_001071:exon6:c.G804A:p.Q268Q;	exonic	ENSG00000176890	synonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.G804A:p.Q268Q;ENSG00000176890:ENST00000323224:exon5:c.G702A:p.Q234Q;ENSG00000176890:ENST00000323250:exon4:c.G555A:p.Q185Q;	0.303966602314768	0.648
18	671451	G	C	18	671451	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.G804C:p.Q268H;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.G804C:p.Q268H;ENSG00000176890:ENST00000323224:exon5:c.G702C:p.Q234H;ENSG00000176890:ENST00000323250:exon4:c.G555C:p.Q185H;	0.971867183753344	0.852
18	671451	G	T	18	671451	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon6:c.G804T:p.Q268H;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon6:c.G804T:p.Q268H;ENSG00000176890:ENST00000323224:exon5:c.G702T:p.Q234H;ENSG00000176890:ENST00000323250:exon4:c.G555T:p.Q185H;	0.959593250829471	0.866
18	671452	G	A	18	671452	y	y	splicing	TYMS(NM_001071:exon6:c.804+1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.804+1G>A;ENST00000323224:exon5:c.702+1G>A;ENST00000323250:exon4:c.555+1G>A)	.	.	0.999949572033895	0.934
18	671452	G	C	18	671452	y	y	splicing	TYMS(NM_001071:exon6:c.804+1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.804+1G>C;ENST00000323224:exon5:c.702+1G>C;ENST00000323250:exon4:c.555+1G>C)	.	.	0.999938382642097	0.934
18	671452	G	T	18	671452	y	y	splicing	TYMS(NM_001071:exon6:c.804+1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.804+1G>T;ENST00000323224:exon5:c.702+1G>T;ENST00000323250:exon4:c.555+1G>T)	.	.	0.999949572033895	0.934
18	671453	T	A	18	671453	y	y	splicing	TYMS(NM_001071:exon6:c.804+2T>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.804+2T>A;ENST00000323224:exon5:c.702+2T>A;ENST00000323250:exon4:c.555+2T>A)	.	.	0.999966514958823	0.946
18	671453	T	C	18	671453	y	y	splicing	TYMS(NM_001071:exon6:c.804+2T>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.804+2T>C;ENST00000323224:exon5:c.702+2T>C;ENST00000323250:exon4:c.555+2T>C)	.	.	0.967598199415038	0.578
18	671453	T	G	18	671453	y	y	splicing	TYMS(NM_001071:exon6:c.804+2T>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon6:c.804+2T>G;ENST00000323224:exon5:c.702+2T>G;ENST00000323250:exon4:c.555+2T>G)	.	.	0.999966514958823	0.938
18	671454	A	C	18	671454	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0659907968025604	0.24
18	671454	A	G	18	671454	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.69748043544337E-4	0.018
18	671454	A	T	18	671454	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.0428267719729771	0.254
18	671455	A	C	18	671455	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.238309768899538	0.478
18	671455	A	G	18	671455	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.324635145289573	0.392
18	671455	A	T	18	671455	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.262984401388354	0.456
18	671456	G	A	18	671456	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.422375724855319	0.564
18	671456	G	C	18	671456	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.21458121883354	0.472
18	671456	G	T	18	671456	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	0.380321656598465	0.492
18	671457	A	C	18	671457	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.75292047042018E-5	0.006
18	671457	A	G	18	671457	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.26007143607885E-5	0.006
18	671457	A	T	18	671457	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.26007143607885E-5	0.058
18	671458	A	C	18	671458	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.90457231521222E-6	0.02
18	671458	A	G	18	671458	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.90457231521222E-6	0.016
18	671458	A	T	18	671458	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	1.06651702251777E-5	0.0
18	671459	T	A	18	671459	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	6.02383299655812E-6	0.0
18	671459	T	C	18	671459	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.89978983859627E-6	0.012
18	671459	T	G	18	671459	y	y	UTR3	ENOSF1	.	.	intronic	ENSG00000176890	.	.	3.89978983859627E-6	0.02
18	672848	T	A	18	672848	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.00200744063777078	0.114
18	672848	T	C	18	672848	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	4.01917117907352E-5	0.016
18	672848	T	G	18	672848	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.997007576445534	0.958
18	672849	T	A	18	672849	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.0583147687289624	0.412
18	672849	T	C	18	672849	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	2.65910227128402E-4	0.098
18	672849	T	G	18	672849	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.0297504839745361	0.39
18	672850	T	A	18	672850	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.0296598535459802	0.276
18	672850	T	C	18	672850	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	6.3915440975476E-5	0.002
18	672850	T	G	18	672850	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.0133423519982974	0.306
18	672851	T	A	18	672851	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.999948483028761	0.966
18	672851	T	C	18	672851	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	8.57409822329242E-4	0.06
18	672851	T	G	18	672851	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.299652678651178	0.534
18	672852	G	A	18	672852	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	4.28991552480488E-5	0.002
18	672852	G	C	18	672852	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	2.77791352621521E-5	0.0
18	672852	G	T	18	672852	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	2.77791352621521E-5	0.0
18	672853	T	A	18	672853	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.0276085248603617	0.356
18	672853	T	C	18	672853	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	3.28513259136064E-5	0.008
18	672853	T	G	18	672853	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.0011090674821954	0.252
18	672854	T	A	18	672854	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.479274644460476	0.41
18	672854	T	C	18	672854	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.00131034415783719	0.024
18	672854	T	G	18	672854	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.325867731250062	0.436
18	672855	T	A	18	672855	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.805022295042701	0.474
18	672855	T	C	18	672855	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	3.33938183940959E-4	0.014
18	672855	T	G	18	672855	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.747026047396619	0.496
18	672856	T	A	18	672856	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	1.08125601695711E-4	0.04
18	672856	T	C	18	672856	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	4.91125889811943E-5	0.006
18	672856	T	G	18	672856	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	8.98257955492904E-5	0.006
18	672857	T	A	18	672857	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.00106667814619464	0.092
18	672857	T	C	18	672857	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	3.22100283785912E-5	0.014
18	672857	T	G	18	672857	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	0.982777345156276	0.674
18	672858	A	C	18	672858	y	y	splicing	TYMS(NM_001071:exon7:c.805-2A>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon7:c.805-2A>C;ENST00000323224:exon6:c.703-2A>C;ENST00000323250:exon5:c.556-2A>C)	.	.	0.999938221968836	0.888
18	672858	A	G	18	672858	y	y	splicing	TYMS(NM_001071:exon7:c.805-2A>G)	.	.	splicing	ENSG00000176890(ENST00000323274:exon7:c.805-2A>G;ENST00000323224:exon6:c.703-2A>G;ENST00000323250:exon5:c.556-2A>G)	.	.	0.999938221968836	0.888
18	672858	A	T	18	672858	y	y	splicing	TYMS(NM_001071:exon7:c.805-2A>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon7:c.805-2A>T;ENST00000323224:exon6:c.703-2A>T;ENST00000323250:exon5:c.556-2A>T)	.	.	0.999938221968836	0.896
18	672859	G	A	18	672859	y	y	splicing	TYMS(NM_001071:exon7:c.805-1G>A)	.	.	splicing	ENSG00000176890(ENST00000323274:exon7:c.805-1G>A;ENST00000323224:exon6:c.703-1G>A;ENST00000323250:exon5:c.556-1G>A)	.	.	0.999962645301161	0.952
18	672859	G	C	18	672859	y	y	splicing	TYMS(NM_001071:exon7:c.805-1G>C)	.	.	splicing	ENSG00000176890(ENST00000323274:exon7:c.805-1G>C;ENST00000323224:exon6:c.703-1G>C;ENST00000323250:exon5:c.556-1G>C)	.	.	0.999962645301161	0.944
18	672859	G	T	18	672859	y	y	splicing	TYMS(NM_001071:exon7:c.805-1G>T)	.	.	splicing	ENSG00000176890(ENST00000323274:exon7:c.805-1G>T;ENST00000323224:exon6:c.703-1G>T;ENST00000323250:exon5:c.556-1G>T)	.	.	0.999962645301161	0.934
18	672860	C	A	18	672860	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon7:c.C805A:p.L269I;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon7:c.C805A:p.L269I;ENSG00000176890:ENST00000323224:exon6:c.C703A:p.L235I;ENSG00000176890:ENST00000323250:exon5:c.C556A:p.L186I;	0.00409062928811631	0.028
18	672860	C	G	18	672860	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon7:c.C805G:p.L269V;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon7:c.C805G:p.L269V;ENSG00000176890:ENST00000323224:exon6:c.C703G:p.L235V;ENSG00000176890:ENST00000323250:exon5:c.C556G:p.L186V;	0.0829303037423624	0.31
18	672860	C	T	18	672860	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon7:c.C805T:p.L269F;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon7:c.C805T:p.L269F;ENSG00000176890:ENST00000323224:exon6:c.C703T:p.L235F;ENSG00000176890:ENST00000323250:exon5:c.C556T:p.L186F;	0.254946984309818	0.478
18	672861	T	A	18	672861	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon7:c.T806A:p.L269H;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon7:c.T806A:p.L269H;ENSG00000176890:ENST00000323224:exon6:c.T704A:p.L235H;ENSG00000176890:ENST00000323250:exon5:c.T557A:p.L186H;	0.952641827265979	0.812
18	672861	T	C	18	672861	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon7:c.T806C:p.L269P;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon7:c.T806C:p.L269P;ENSG00000176890:ENST00000323224:exon6:c.T704C:p.L235P;ENSG00000176890:ENST00000323250:exon5:c.T557C:p.L186P;	0.92961721136914	0.78
18	672861	T	G	18	672861	y	y	exonic	TYMS	nonsynonymous SNV	TYMS:NM_001071:exon7:c.T806G:p.L269R;	exonic	ENSG00000176890	nonsynonymous SNV	ENSG00000176890:ENST00000323274:exon7:c.T806G:p.L269R;ENSG00000176890:ENST00000323224:exon6:c.T704G:p.L235R;ENSG00000176890:ENST00000323250:exon5:c.T557G:p.L186R;	0.924282330812132	0.78
18	673075	C	A	18	673075	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000132199;ENSG00000176890	.	.	4.49778138453998E-5	0.0
18	673075	C	G	18	673075	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000132199;ENSG00000176890	.	.	4.34150215537742E-5	0.0
18	673075	C	T	18	673075	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000132199;ENSG00000176890	.	.	4.49778138453998E-5	0.0
18	673076	T	A	18	673076	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000132199;ENSG00000176890	.	.	1.65602961808381E-4	0.016
18	673076	T	C	18	673076	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000132199;ENSG00000176890	.	.	1.02604092714733E-4	0.016
18	673076	T	G	18	673076	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000132199;ENSG00000176890	.	.	1.02604092714733E-4	0.016
18	673077	C	A	18	673077	y	y	splicing	ENOSF1(NM_001126123:exon17:c.1231-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon17:c.1231-1G>T;ENST00000319815:exon10:c.787-1G>T)	.	.	4.34150215537742E-5	0.0
18	673077	C	G	18	673077	y	y	splicing	ENOSF1(NM_001126123:exon17:c.1231-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon17:c.1231-1G>C;ENST00000319815:exon10:c.787-1G>C)	.	.	2.38863475275964E-5	0.0
18	673077	C	T	18	673077	y	y	splicing	ENOSF1(NM_001126123:exon17:c.1231-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon17:c.1231-1G>A;ENST00000319815:exon10:c.787-1G>A)	.	.	4.49778138453998E-5	0.0
18	673078	T	A	18	673078	y	y	splicing	ENOSF1(NM_001126123:exon17:c.1231-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon17:c.1231-2A>T;ENST00000319815:exon10:c.787-2A>T)	.	.	4.34935379995452E-4	0.004
18	673078	T	C	18	673078	y	y	splicing	ENOSF1(NM_001126123:exon17:c.1231-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon17:c.1231-2A>G;ENST00000319815:exon10:c.787-2A>G)	.	.	6.24677560465058E-4	0.004
18	673078	T	G	18	673078	y	y	splicing	ENOSF1(NM_001126123:exon17:c.1231-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon17:c.1231-2A>C;ENST00000319815:exon10:c.787-2A>C)	.	.	6.24677560465058E-4	0.004
18	673079	A	C	18	673079	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	0.00158195881612626	0.016
18	673079	A	G	18	673079	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	0.00158195881612626	0.018
18	673079	A	T	18	673079	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	0.00229143062174179	0.018
18	673080	A	C	18	673080	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	5.15941453541388E-5	0.004
18	673080	A	G	18	673080	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	5.15941453541388E-5	0.004
18	673080	A	T	18	673080	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	5.69439264402225E-5	0.002
18	673081	A	C	18	673081	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	1.77575230623332E-4	0.016
18	673081	A	G	18	673081	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	1.64400779785233E-4	0.016
18	673081	A	T	18	673081	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	2.65332719750715E-4	0.016
18	673082	A	C	18	673082	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	2.3994564522384E-5	0.016
18	673082	A	G	18	673082	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	2.3994564522384E-5	0.016
18	673082	A	T	18	673082	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	4.45170072801036E-5	0.016
18	673083	G	A	18	673083	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.80465223468383E-5	0.002
18	673083	G	C	18	673083	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.80465223468383E-5	0.002
18	673083	G	T	18	673083	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.80465223468383E-5	0.002
18	673084	A	C	18	673084	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	2.56567834969361E-5	0.0
18	673084	A	G	18	673084	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	2.56567834969361E-5	0.0
18	673084	A	T	18	673084	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.96304298361906E-5	0.0
18	673085	A	C	18	673085	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.13536747317882E-5	0.036
18	673085	A	G	18	673085	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.13536747317882E-5	0.036
18	673085	A	T	18	673085	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	4.50637419222736E-5	0.036
18	673086	A	C	18	673086	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.37565206783177E-5	0.01
18	673086	A	G	18	673086	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.37565206783177E-5	0.01
18	673086	A	T	18	673086	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	4.85172328504545E-5	0.01
18	673087	A	C	18	673087	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	6.27477746119029E-5	0.0
18	673087	A	G	18	673087	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	6.27477746119029E-5	0.0
18	673087	A	T	18	673087	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	1.02728736892418E-4	0.004
18	673088	A	C	18	673088	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	2.98542968807727E-4	0.016
18	673088	A	G	18	673088	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	2.98542968807727E-4	0.016
18	673088	A	T	18	673088	y	y	UTR3	ENOSF1;TYMS	.	.	UTR3	ENSG00000176890	.	.	3.86867110297081E-4	0.016
18	674153	A	C	18	674153	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	2.82827935381688E-5	0.002
18	674153	A	G	18	674153	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	2.82827935381688E-5	0.002
18	674153	A	T	18	674153	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	2.82827935381688E-5	0.0
18	674154	T	A	18	674154	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	3.39457982047225E-5	0.0
18	674154	T	C	18	674154	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	3.39457982047225E-5	0.0
18	674154	T	G	18	674154	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	3.39457982047225E-5	0.0
18	674155	A	C	18	674155	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	6.26007143607885E-5	0.006
18	674155	A	G	18	674155	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	6.26007143607885E-5	0.006
18	674155	A	T	18	674155	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	4.68140984436469E-5	0.008
18	674156	A	C	18	674156	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	1.06602690930623E-4	0.018
18	674156	A	G	18	674156	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	1.06602690930623E-4	0.018
18	674156	A	T	18	674156	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	2.28931909661929E-4	0.018
18	674157	T	A	18	674157	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	1.42854166131772E-4	0.004
18	674157	T	C	18	674157	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	7.65111838688283E-5	0.004
18	674157	T	G	18	674157	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	7.65111838688283E-5	0.004
18	674158	T	A	18	674158	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	8.60578370355274E-6	0.0
18	674158	T	C	18	674158	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	7.97552862615456E-6	0.0
18	674158	T	G	18	674158	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	7.97552862615456E-6	0.0
18	674159	A	C	18	674159	y	y	splicing	ENOSF1(NM_001126123:exon16:c.1230+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.1230+2T>G;ENST00000319815:exon9:c.786+2T>G)	.	.	0.00115282057099061	0.016
18	674159	A	G	18	674159	y	y	splicing	ENOSF1(NM_001126123:exon16:c.1230+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.1230+2T>C;ENST00000319815:exon9:c.786+2T>C)	.	.	0.00115282057099061	0.016
18	674159	A	T	18	674159	y	y	splicing	ENOSF1(NM_001126123:exon16:c.1230+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.1230+2T>A;ENST00000319815:exon9:c.786+2T>A)	.	.	0.00133465960783324	0.02
18	674160	C	A	18	674160	y	y	splicing	ENOSF1(NM_001126123:exon16:c.1230+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.1230+1G>T;ENST00000319815:exon9:c.786+1G>T)	.	.	5.8840742393182E-5	0.0
18	674160	C	G	18	674160	y	y	splicing	ENOSF1(NM_001126123:exon16:c.1230+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.1230+1G>C;ENST00000319815:exon9:c.786+1G>C)	.	.	5.8840742393182E-5	0.0
18	674160	C	T	18	674160	y	y	splicing	ENOSF1(NM_001126123:exon16:c.1230+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.1230+1G>A;ENST00000319815:exon9:c.786+1G>A)	.	.	5.8840742393182E-5	0.0
18	674161	T	A	18	674161	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	3.63993120321087E-4	0.076
18	674161	T	C	18	674161	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	5.19467601979012E-4	0.08
18	674161	T	G	18	674161	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	5.19467601979012E-4	0.08
18	674162	T	A	18	674162	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	6.38654177270097E-5	0.002
18	674162	T	C	18	674162	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	8.5401575932872E-5	0.008
18	674162	T	G	18	674162	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	8.5401575932872E-5	0.008
18	674163	A	C	18	674163	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	4.54404724015672E-5	0.0
18	674163	A	G	18	674163	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	4.54404724015672E-5	0.0
18	674163	A	T	18	674163	y	y	UTR3	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	4.54404724015672E-5	0.0
18	674405	T	A	18	674405	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon16:c.A1232T:p.D411V;ENOSF1:NM_001126123:exon15:c.A986T:p.D329V;ENOSF1:NM_202758:exon15:c.A1253T:p.D418V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon8:c.A542T:p.D181V;ENSG00000132199:ENST00000251101:exon16:c.A1232T:p.D411V;ENSG00000132199:ENST00000383578:exon15:c.A986T:p.D329V;ENSG00000132199:ENST00000580982:exon13:c.A1004T:p.D335V;ENSG00000132199:ENST00000340116:exon15:c.A1253T:p.D418V;	1.09015774045575E-4	0.006
18	674405	T	C	18	674405	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon16:c.A1232G:p.D411G;ENOSF1:NM_001126123:exon15:c.A986G:p.D329G;ENOSF1:NM_202758:exon15:c.A1253G:p.D418G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon8:c.A542G:p.D181G;ENSG00000132199:ENST00000251101:exon16:c.A1232G:p.D411G;ENSG00000132199:ENST00000383578:exon15:c.A986G:p.D329G;ENSG00000132199:ENST00000580982:exon13:c.A1004G:p.D335G;ENSG00000132199:ENST00000340116:exon15:c.A1253G:p.D418G;	9.8424074441113E-5	0.022
18	674405	T	G	18	674405	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon16:c.A1232C:p.D411A;ENOSF1:NM_001126123:exon15:c.A986C:p.D329A;ENOSF1:NM_202758:exon15:c.A1253C:p.D418A;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon8:c.A542C:p.D181A;ENSG00000132199:ENST00000251101:exon16:c.A1232C:p.D411A;ENSG00000132199:ENST00000383578:exon15:c.A986C:p.D329A;ENSG00000132199:ENST00000580982:exon13:c.A1004C:p.D335A;ENSG00000132199:ENST00000340116:exon15:c.A1253C:p.D418A;	3.09144261666941E-5	0.026
18	674406	C	A	18	674406	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon16:c.G1231T:p.D411Y;ENOSF1:NM_001126123:exon15:c.G985T:p.D329Y;ENOSF1:NM_202758:exon15:c.G1252T:p.D418Y;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon8:c.G541T:p.D181Y;ENSG00000132199:ENST00000251101:exon16:c.G1231T:p.D411Y;ENSG00000132199:ENST00000383578:exon15:c.G985T:p.D329Y;ENSG00000132199:ENST00000580982:exon13:c.G1003T:p.D335Y;ENSG00000132199:ENST00000340116:exon15:c.G1252T:p.D418Y;	0.969112462291661	0.504
18	674406	C	G	18	674406	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon16:c.G1231C:p.D411H;ENOSF1:NM_001126123:exon15:c.G985C:p.D329H;ENOSF1:NM_202758:exon15:c.G1252C:p.D418H;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon8:c.G541C:p.D181H;ENSG00000132199:ENST00000251101:exon16:c.G1231C:p.D411H;ENSG00000132199:ENST00000383578:exon15:c.G985C:p.D329H;ENSG00000132199:ENST00000580982:exon13:c.G1003C:p.D335H;ENSG00000132199:ENST00000340116:exon15:c.G1252C:p.D418H;	0.94183905062706	0.55
18	674406	C	T	18	674406	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon16:c.G1231A:p.D411N;ENOSF1:NM_001126123:exon15:c.G985A:p.D329N;ENOSF1:NM_202758:exon15:c.G1252A:p.D418N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon8:c.G541A:p.D181N;ENSG00000132199:ENST00000251101:exon16:c.G1231A:p.D411N;ENSG00000132199:ENST00000383578:exon15:c.G985A:p.D329N;ENSG00000132199:ENST00000580982:exon13:c.G1003A:p.D335N;ENSG00000132199:ENST00000340116:exon15:c.G1252A:p.D418N;	0.351660442066826	0.502
18	674407	C	A	18	674407	y	y	splicing	ENOSF1(NM_001126123:exon16:c.985-1G>T;NM_017512:exon17:c.1231-1G>T;NM_202758:exon16:c.1252-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.985-1G>T;ENST00000319815:exon9:c.541-1G>T;ENST00000251101:exon17:c.1231-1G>T;ENST00000581475:exon15:c.1233-1G>T;ENST00000340116:exon16:c.1252-1G>T;ENST00000580982:exon14:c.1003-1G>T;ENST00000585128:exon16:c.1051-1G>T;ENST00000584453:exon16:c.1158-1G>T)	.	.	0.999962153403958	0.878
18	674407	C	G	18	674407	y	y	splicing	ENOSF1(NM_001126123:exon16:c.985-1G>C;NM_017512:exon17:c.1231-1G>C;NM_202758:exon16:c.1252-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.985-1G>C;ENST00000319815:exon9:c.541-1G>C;ENST00000251101:exon17:c.1231-1G>C;ENST00000581475:exon15:c.1233-1G>C;ENST00000340116:exon16:c.1252-1G>C;ENST00000580982:exon14:c.1003-1G>C;ENST00000585128:exon16:c.1051-1G>C;ENST00000584453:exon16:c.1158-1G>C)	.	.	0.999962153403958	0.866
18	674407	C	T	18	674407	y	y	splicing	ENOSF1(NM_001126123:exon16:c.985-1G>A;NM_017512:exon17:c.1231-1G>A;NM_202758:exon16:c.1252-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.985-1G>A;ENST00000319815:exon9:c.541-1G>A;ENST00000251101:exon17:c.1231-1G>A;ENST00000581475:exon15:c.1233-1G>A;ENST00000340116:exon16:c.1252-1G>A;ENST00000580982:exon14:c.1003-1G>A;ENST00000585128:exon16:c.1051-1G>A;ENST00000584453:exon16:c.1158-1G>A)	.	.	0.999962153403958	0.884
18	674408	T	A	18	674408	y	y	splicing	ENOSF1(NM_001126123:exon16:c.985-2A>T;NM_017512:exon17:c.1231-2A>T;NM_202758:exon16:c.1252-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.985-2A>T;ENST00000319815:exon9:c.541-2A>T;ENST00000251101:exon17:c.1231-2A>T;ENST00000581475:exon15:c.1233-2A>T;ENST00000340116:exon16:c.1252-2A>T;ENST00000580982:exon14:c.1003-2A>T;ENST00000585128:exon16:c.1051-2A>T;ENST00000584453:exon16:c.1158-2A>T)	.	.	0.999980255680118	0.788
18	674408	T	C	18	674408	y	y	splicing	ENOSF1(NM_001126123:exon16:c.985-2A>G;NM_017512:exon17:c.1231-2A>G;NM_202758:exon16:c.1252-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.985-2A>G;ENST00000319815:exon9:c.541-2A>G;ENST00000251101:exon17:c.1231-2A>G;ENST00000581475:exon15:c.1233-2A>G;ENST00000340116:exon16:c.1252-2A>G;ENST00000580982:exon14:c.1003-2A>G;ENST00000585128:exon16:c.1051-2A>G;ENST00000584453:exon16:c.1158-2A>G)	.	.	0.999980255680118	0.738
18	674408	T	G	18	674408	y	y	splicing	ENOSF1(NM_001126123:exon16:c.985-2A>C;NM_017512:exon17:c.1231-2A>C;NM_202758:exon16:c.1252-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon16:c.985-2A>C;ENST00000319815:exon9:c.541-2A>C;ENST00000251101:exon17:c.1231-2A>C;ENST00000581475:exon15:c.1233-2A>C;ENST00000340116:exon16:c.1252-2A>C;ENST00000580982:exon14:c.1003-2A>C;ENST00000585128:exon16:c.1051-2A>C;ENST00000584453:exon16:c.1158-2A>C)	.	.	0.999980255680118	0.736
18	674409	A	C	18	674409	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.847515128294547	0.668
18	674409	A	G	18	674409	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.39028839591533E-5	0.028
18	674409	A	T	18	674409	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00157005922939115	0.29
18	674410	T	A	18	674410	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.80300248371604E-5	0.0
18	674410	T	C	18	674410	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.97602762311958E-5	0.004
18	674410	T	G	18	674410	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.33833472525359E-5	0.006
18	674411	C	A	18	674411	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.3755798172413E-4	0.142
18	674411	C	G	18	674411	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.11257376496782E-5	0.066
18	674411	C	T	18	674411	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.96543120585754E-5	0.062
18	674412	A	C	18	674412	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00706097510380397	0.406
18	674412	A	G	18	674412	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.71755862480209E-5	0.006
18	674412	A	T	18	674412	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.998913555981524	0.974
18	674413	A	C	18	674413	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.99255920887192E-4	0.266
18	674413	A	G	18	674413	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.40063699135737E-5	0.0
18	674413	A	T	18	674413	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00192545678983142	0.244
18	674414	A	C	18	674414	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0597955932568879	0.376
18	674414	A	G	18	674414	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.01620051745805E-4	0.054
18	674414	A	T	18	674414	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.545350419290279	0.382
18	674415	G	A	18	674415	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.53581384677902E-5	0.11
18	674415	G	C	18	674415	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.0430036094083E-4	0.116
18	674415	G	T	18	674415	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00263818963196071	0.11
18	674416	A	C	18	674416	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0342570439605854	0.4
18	674416	A	G	18	674416	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.33909214906746E-4	0.092
18	674416	A	T	18	674416	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.111108685262485	0.41
18	674417	C	A	18	674417	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.70552093357571E-5	0.038
18	674417	C	G	18	674417	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.70552093357571E-5	0.01
18	674417	C	T	18	674417	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.70552093357571E-5	0.018
18	674418	C	A	18	674418	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.59660858139777E-5	0.0
18	674418	C	G	18	674418	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.59660858139777E-5	0.0
18	674418	C	T	18	674418	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.435463207356437	0.72
18	675313	C	A	18	675313	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.28110851889092E-4	0.0
18	675313	C	G	18	675313	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.28110851889092E-4	0.0
18	675313	C	T	18	675313	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.04875135834065E-5	0.0
18	675314	A	C	18	675314	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.46844991217429E-5	0.0
18	675314	A	G	18	675314	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.46844991217429E-5	0.0
18	675314	A	T	18	675314	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.46844991217429E-5	0.0
18	675315	G	A	18	675315	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.80563939482675E-5	0.012
18	675315	G	C	18	675315	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.12244295914589E-4	0.048
18	675315	G	T	18	675315	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.11635931420494E-4	0.006
18	675316	C	A	18	675316	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.956614575303361	0.558
18	675316	C	G	18	675316	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.526743592825383	0.52
18	675316	C	T	18	675316	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.847222705798609	0.56
18	675317	T	A	18	675317	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0962322670338643	0.436
18	675317	T	C	18	675317	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.104047666688371	0.386
18	675317	T	G	18	675317	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0574018612267259	0.386
18	675318	T	A	18	675318	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.825138206127139	0.456
18	675318	T	C	18	675318	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.2021496056146E-4	0.012
18	675318	T	G	18	675318	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.841859198716308	0.552
18	675319	A	C	18	675319	y	y	splicing	ENOSF1(NM_001126123:exon15:c.984+2T>G;NM_017512:exon16:c.1230+2T>G;NM_202758:exon15:c.1251+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.984+2T>G;ENST00000319815:exon8:c.540+2T>G;ENST00000251101:exon16:c.1230+2T>G;ENST00000581475:exon14:c.1232+2T>G;ENST00000340116:exon15:c.1251+2T>G;ENST00000580982:exon13:c.1002+2T>G;ENST00000585128:exon15:c.1050+2T>G;ENST00000584453:exon15:c.1157+2T>G)	.	.	0.999946188727699	0.946
18	675319	A	G	18	675319	y	y	splicing	ENOSF1(NM_001126123:exon15:c.984+2T>C;NM_017512:exon16:c.1230+2T>C;NM_202758:exon15:c.1251+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.984+2T>C;ENST00000319815:exon8:c.540+2T>C;ENST00000251101:exon16:c.1230+2T>C;ENST00000581475:exon14:c.1232+2T>C;ENST00000340116:exon15:c.1251+2T>C;ENST00000580982:exon13:c.1002+2T>C;ENST00000585128:exon15:c.1050+2T>C;ENST00000584453:exon15:c.1157+2T>C)	.	.	0.966207768270075	0.702
18	675319	A	T	18	675319	y	y	splicing	ENOSF1(NM_001126123:exon15:c.984+2T>A;NM_017512:exon16:c.1230+2T>A;NM_202758:exon15:c.1251+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.984+2T>A;ENST00000319815:exon8:c.540+2T>A;ENST00000251101:exon16:c.1230+2T>A;ENST00000581475:exon14:c.1232+2T>A;ENST00000340116:exon15:c.1251+2T>A;ENST00000580982:exon13:c.1002+2T>A;ENST00000585128:exon15:c.1050+2T>A;ENST00000584453:exon15:c.1157+2T>A)	.	.	0.99994568797423	0.946
18	675320	C	A	18	675320	y	y	splicing	ENOSF1(NM_001126123:exon15:c.984+1G>T;NM_017512:exon16:c.1230+1G>T;NM_202758:exon15:c.1251+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.984+1G>T;ENST00000319815:exon8:c.540+1G>T;ENST00000251101:exon16:c.1230+1G>T;ENST00000581475:exon14:c.1232+1G>T;ENST00000340116:exon15:c.1251+1G>T;ENST00000580982:exon13:c.1002+1G>T;ENST00000585128:exon15:c.1050+1G>T;ENST00000584453:exon15:c.1157+1G>T)	.	.	0.99995545544995	0.944
18	675320	C	G	18	675320	y	y	splicing	ENOSF1(NM_001126123:exon15:c.984+1G>C;NM_017512:exon16:c.1230+1G>C;NM_202758:exon15:c.1251+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.984+1G>C;ENST00000319815:exon8:c.540+1G>C;ENST00000251101:exon16:c.1230+1G>C;ENST00000581475:exon14:c.1232+1G>C;ENST00000340116:exon15:c.1251+1G>C;ENST00000580982:exon13:c.1002+1G>C;ENST00000585128:exon15:c.1050+1G>C;ENST00000584453:exon15:c.1157+1G>C)	.	.	0.99995545544995	0.944
18	675320	C	T	18	675320	y	y	splicing	ENOSF1(NM_001126123:exon15:c.984+1G>A;NM_017512:exon16:c.1230+1G>A;NM_202758:exon15:c.1251+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.984+1G>A;ENST00000319815:exon8:c.540+1G>A;ENST00000251101:exon16:c.1230+1G>A;ENST00000581475:exon14:c.1232+1G>A;ENST00000340116:exon15:c.1251+1G>A;ENST00000580982:exon13:c.1002+1G>A;ENST00000585128:exon15:c.1050+1G>A;ENST00000584453:exon15:c.1157+1G>A)	.	.	0.99995545544995	0.936
18	675321	C	A	18	675321	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.G1230T:p.K410N;ENOSF1:NM_001126123:exon14:c.G984T:p.K328N;ENOSF1:NM_202758:exon14:c.G1251T:p.K417N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G540T:p.K180N;ENSG00000132199:ENST00000251101:exon15:c.G1230T:p.K410N;ENSG00000132199:ENST00000383578:exon14:c.G984T:p.K328N;ENSG00000132199:ENST00000580982:exon12:c.G1002T:p.K334N;ENSG00000132199:ENST00000340116:exon14:c.G1251T:p.K417N;	0.976208869103101	0.84
18	675321	C	G	18	675321	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.G1230C:p.K410N;ENOSF1:NM_001126123:exon14:c.G984C:p.K328N;ENOSF1:NM_202758:exon14:c.G1251C:p.K417N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G540C:p.K180N;ENSG00000132199:ENST00000251101:exon15:c.G1230C:p.K410N;ENSG00000132199:ENST00000383578:exon14:c.G984C:p.K328N;ENSG00000132199:ENST00000580982:exon12:c.G1002C:p.K334N;ENSG00000132199:ENST00000340116:exon14:c.G1251C:p.K417N;	0.98674903891434	0.628
18	675321	C	T	18	675321	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon15:c.G1230A:p.K410K;ENOSF1:NM_001126123:exon14:c.G984A:p.K328K;ENOSF1:NM_202758:exon14:c.G1251A:p.K417K;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G540A:p.K180K;ENSG00000132199:ENST00000251101:exon15:c.G1230A:p.K410K;ENSG00000132199:ENST00000383578:exon14:c.G984A:p.K328K;ENSG00000132199:ENST00000580982:exon12:c.G1002A:p.K334K;ENSG00000132199:ENST00000340116:exon14:c.G1251A:p.K417K;	0.76073675121457	0.67
18	675322	T	A	18	675322	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.A1229T:p.K410M;ENOSF1:NM_001126123:exon14:c.A983T:p.K328M;ENOSF1:NM_202758:exon14:c.A1250T:p.K417M;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.A539T:p.K180M;ENSG00000132199:ENST00000251101:exon15:c.A1229T:p.K410M;ENSG00000132199:ENST00000383578:exon14:c.A983T:p.K328M;ENSG00000132199:ENST00000580982:exon12:c.A1001T:p.K334M;ENSG00000132199:ENST00000340116:exon14:c.A1250T:p.K417M;	0.0400586041523129	0.27
18	675322	T	C	18	675322	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.A1229G:p.K410R;ENOSF1:NM_001126123:exon14:c.A983G:p.K328R;ENOSF1:NM_202758:exon14:c.A1250G:p.K417R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.A539G:p.K180R;ENSG00000132199:ENST00000251101:exon15:c.A1229G:p.K410R;ENSG00000132199:ENST00000383578:exon14:c.A983G:p.K328R;ENSG00000132199:ENST00000580982:exon12:c.A1001G:p.K334R;ENSG00000132199:ENST00000340116:exon14:c.A1250G:p.K417R;	0.0338173267558446	0.184
18	675322	T	G	18	675322	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.A1229C:p.K410T;ENOSF1:NM_001126123:exon14:c.A983C:p.K328T;ENOSF1:NM_202758:exon14:c.A1250C:p.K417T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.A539C:p.K180T;ENSG00000132199:ENST00000251101:exon15:c.A1229C:p.K410T;ENSG00000132199:ENST00000383578:exon14:c.A983C:p.K328T;ENSG00000132199:ENST00000580982:exon12:c.A1001C:p.K334T;ENSG00000132199:ENST00000340116:exon14:c.A1250C:p.K417T;	0.0110228697343395	0.348
18	675323	T	A	18	675323	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon15:c.A1228T:p.K410X;ENOSF1:NM_001126123:exon14:c.A982T:p.K328X;ENOSF1:NM_202758:exon14:c.A1249T:p.K417X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000319815:exon7:c.A538T:p.K180X;ENSG00000132199:ENST00000251101:exon15:c.A1228T:p.K410X;ENSG00000132199:ENST00000383578:exon14:c.A982T:p.K328X;ENSG00000132199:ENST00000580982:exon12:c.A1000T:p.K334X;ENSG00000132199:ENST00000340116:exon14:c.A1249T:p.K417X;	0.00161869090253592	0.224
18	675323	T	C	18	675323	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.A1228G:p.K410E;ENOSF1:NM_001126123:exon14:c.A982G:p.K328E;ENOSF1:NM_202758:exon14:c.A1249G:p.K417E;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.A538G:p.K180E;ENSG00000132199:ENST00000251101:exon15:c.A1228G:p.K410E;ENSG00000132199:ENST00000383578:exon14:c.A982G:p.K328E;ENSG00000132199:ENST00000580982:exon12:c.A1000G:p.K334E;ENSG00000132199:ENST00000340116:exon14:c.A1249G:p.K417E;	1.3022651134413E-5	0.004
18	675323	T	G	18	675323	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.A1228C:p.K410Q;ENOSF1:NM_001126123:exon14:c.A982C:p.K328Q;ENOSF1:NM_202758:exon14:c.A1249C:p.K417Q;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.A538C:p.K180Q;ENSG00000132199:ENST00000251101:exon15:c.A1228C:p.K410Q;ENSG00000132199:ENST00000383578:exon14:c.A982C:p.K328Q;ENSG00000132199:ENST00000580982:exon12:c.A1000C:p.K334Q;ENSG00000132199:ENST00000340116:exon14:c.A1249C:p.K417Q;	2.256915070725E-5	0.0
18	675401	C	A	18	675401	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.G1150T:p.V384L;ENOSF1:NM_001126123:exon14:c.G904T:p.V302L;ENOSF1:NM_202758:exon14:c.G1171T:p.V391L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G460T:p.V154L;ENSG00000132199:ENST00000251101:exon15:c.G1150T:p.V384L;ENSG00000132199:ENST00000383578:exon14:c.G904T:p.V302L;ENSG00000132199:ENST00000580982:exon12:c.G922T:p.V308L;ENSG00000132199:ENST00000340116:exon14:c.G1171T:p.V391L;	0.00137470024442694	0.074
18	675401	C	G	18	675401	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.G1150C:p.V384L;ENOSF1:NM_001126123:exon14:c.G904C:p.V302L;ENOSF1:NM_202758:exon14:c.G1171C:p.V391L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G460C:p.V154L;ENSG00000132199:ENST00000251101:exon15:c.G1150C:p.V384L;ENSG00000132199:ENST00000383578:exon14:c.G904C:p.V302L;ENSG00000132199:ENST00000580982:exon12:c.G922C:p.V308L;ENSG00000132199:ENST00000340116:exon14:c.G1171C:p.V391L;	0.00172586532621702	0.072
18	675401	C	T	18	675401	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.G1150A:p.V384M;ENOSF1:NM_001126123:exon14:c.G904A:p.V302M;ENOSF1:NM_202758:exon14:c.G1171A:p.V391M;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G460A:p.V154M;ENSG00000132199:ENST00000251101:exon15:c.G1150A:p.V384M;ENSG00000132199:ENST00000383578:exon14:c.G904A:p.V302M;ENSG00000132199:ENST00000580982:exon12:c.G922A:p.V308M;ENSG00000132199:ENST00000340116:exon14:c.G1171A:p.V391M;	2.91658232793501E-4	0.086
18	675402	C	A	18	675402	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.G1149T:p.R383S;ENOSF1:NM_001126123:exon14:c.G903T:p.R301S;ENOSF1:NM_202758:exon14:c.G1170T:p.R390S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G459T:p.R153S;ENSG00000132199:ENST00000251101:exon15:c.G1149T:p.R383S;ENSG00000132199:ENST00000383578:exon14:c.G903T:p.R301S;ENSG00000132199:ENST00000580982:exon12:c.G921T:p.R307S;ENSG00000132199:ENST00000340116:exon14:c.G1170T:p.R390S;	0.999736097406335	0.956
18	675402	C	G	18	675402	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon15:c.G1149C:p.R383S;ENOSF1:NM_001126123:exon14:c.G903C:p.R301S;ENOSF1:NM_202758:exon14:c.G1170C:p.R390S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G459C:p.R153S;ENSG00000132199:ENST00000251101:exon15:c.G1149C:p.R383S;ENSG00000132199:ENST00000383578:exon14:c.G903C:p.R301S;ENSG00000132199:ENST00000580982:exon12:c.G921C:p.R307S;ENSG00000132199:ENST00000340116:exon14:c.G1170C:p.R390S;	0.99953989655598	0.966
18	675402	C	T	18	675402	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon15:c.G1149A:p.R383R;ENOSF1:NM_001126123:exon14:c.G903A:p.R301R;ENOSF1:NM_202758:exon14:c.G1170A:p.R390R;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon7:c.G459A:p.R153R;ENSG00000132199:ENST00000251101:exon15:c.G1149A:p.R383R;ENSG00000132199:ENST00000383578:exon14:c.G903A:p.R301R;ENSG00000132199:ENST00000580982:exon12:c.G921A:p.R307R;ENSG00000132199:ENST00000340116:exon14:c.G1170A:p.R390R;	0.996871954168306	0.846
18	675403	C	A	18	675403	y	y	splicing	ENOSF1(NM_001126123:exon15:c.903-1G>T;NM_017512:exon16:c.1149-1G>T;NM_202758:exon15:c.1170-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.903-1G>T;ENST00000319815:exon8:c.459-1G>T;ENST00000251101:exon16:c.1149-1G>T;ENST00000581475:exon14:c.1151-1G>T;ENST00000340116:exon15:c.1170-1G>T;ENST00000580982:exon13:c.921-1G>T;ENST00000585128:exon15:c.969-1G>T;ENST00000584453:exon15:c.1076-1G>T)	.	.	0.999990361384395	0.936
18	675403	C	G	18	675403	y	y	splicing	ENOSF1(NM_001126123:exon15:c.903-1G>C;NM_017512:exon16:c.1149-1G>C;NM_202758:exon15:c.1170-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.903-1G>C;ENST00000319815:exon8:c.459-1G>C;ENST00000251101:exon16:c.1149-1G>C;ENST00000581475:exon14:c.1151-1G>C;ENST00000340116:exon15:c.1170-1G>C;ENST00000580982:exon13:c.921-1G>C;ENST00000585128:exon15:c.969-1G>C;ENST00000584453:exon15:c.1076-1G>C)	.	.	0.999990361384395	0.936
18	675403	C	T	18	675403	y	y	splicing	ENOSF1(NM_001126123:exon15:c.903-1G>A;NM_017512:exon16:c.1149-1G>A;NM_202758:exon15:c.1170-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.903-1G>A;ENST00000319815:exon8:c.459-1G>A;ENST00000251101:exon16:c.1149-1G>A;ENST00000581475:exon14:c.1151-1G>A;ENST00000340116:exon15:c.1170-1G>A;ENST00000580982:exon13:c.921-1G>A;ENST00000585128:exon15:c.969-1G>A;ENST00000584453:exon15:c.1076-1G>A)	.	.	0.999990361384395	0.936
18	675404	T	A	18	675404	y	y	splicing	ENOSF1(NM_001126123:exon15:c.903-2A>T;NM_017512:exon16:c.1149-2A>T;NM_202758:exon15:c.1170-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.903-2A>T;ENST00000319815:exon8:c.459-2A>T;ENST00000251101:exon16:c.1149-2A>T;ENST00000581475:exon14:c.1151-2A>T;ENST00000340116:exon15:c.1170-2A>T;ENST00000580982:exon13:c.921-2A>T;ENST00000585128:exon15:c.969-2A>T;ENST00000584453:exon15:c.1076-2A>T)	.	.	0.999988247793601	0.928
18	675404	T	C	18	675404	y	y	splicing	ENOSF1(NM_001126123:exon15:c.903-2A>G;NM_017512:exon16:c.1149-2A>G;NM_202758:exon15:c.1170-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.903-2A>G;ENST00000319815:exon8:c.459-2A>G;ENST00000251101:exon16:c.1149-2A>G;ENST00000581475:exon14:c.1151-2A>G;ENST00000340116:exon15:c.1170-2A>G;ENST00000580982:exon13:c.921-2A>G;ENST00000585128:exon15:c.969-2A>G;ENST00000584453:exon15:c.1076-2A>G)	.	.	0.999988247793601	0.928
18	675404	T	G	18	675404	y	y	splicing	ENOSF1(NM_001126123:exon15:c.903-2A>C;NM_017512:exon16:c.1149-2A>C;NM_202758:exon15:c.1170-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon15:c.903-2A>C;ENST00000319815:exon8:c.459-2A>C;ENST00000251101:exon16:c.1149-2A>C;ENST00000581475:exon14:c.1151-2A>C;ENST00000340116:exon15:c.1170-2A>C;ENST00000580982:exon13:c.921-2A>C;ENST00000585128:exon15:c.969-2A>C;ENST00000584453:exon15:c.1076-2A>C)	.	.	0.999988247793601	0.928
18	675405	A	C	18	675405	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.995748860461095	0.718
18	675405	A	G	18	675405	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.98074210530117E-4	0.014
18	675405	A	T	18	675405	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.374643893991097	0.362
18	675406	G	A	18	675406	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.26917628613869E-4	0.036
18	675406	G	C	18	675406	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.81344789468615E-4	0.032
18	675406	G	T	18	675406	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.26917628613869E-4	0.034
18	675407	G	A	18	675407	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.12910097550244E-5	0.0
18	675407	G	C	18	675407	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.54538287821992E-4	0.056
18	675407	G	T	18	675407	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.54538287821992E-4	0.028
18	675408	A	C	18	675408	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0200902024057153	0.146
18	675408	A	G	18	675408	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.07902708129146E-4	0.058
18	675408	A	T	18	675408	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00470028620296615	0.056
18	675409	G	A	18	675409	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.59283712886665E-4	0.026
18	675409	G	C	18	675409	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00471586573964844	0.166
18	675409	G	T	18	675409	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00285099404640952	0.162
18	675410	G	A	18	675410	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.09213309395859E-4	0.04
18	675410	G	C	18	675410	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0014628414332927	0.148
18	675410	G	T	18	675410	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00554573427774738	0.176
18	675411	A	C	18	675411	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.82131580314369E-4	0.072
18	675411	A	G	18	675411	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.91933544877357E-5	0.0
18	675411	A	T	18	675411	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.89580701977258E-4	0.054
18	675412	G	A	18	675412	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.37155996493671E-5	0.044
18	675412	G	C	18	675412	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.01980119542389E-4	0.044
18	675412	G	T	18	675412	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.41320941090555E-4	0.042
18	675413	G	A	18	675413	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.01315188657279E-5	0.0
18	675413	G	C	18	675413	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00130772752668348	0.022
18	675413	G	T	18	675413	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00132997535321492	0.012
18	675414	G	A	18	675414	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00118586876786916	0.034
18	675414	G	C	18	675414	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00240569531140441	0.12
18	675414	G	T	18	675414	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00768973056375207	0.128
18	677337	T	A	18	677337	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.772795029325011	0.576
18	677337	T	C	18	677337	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.577711874036021	0.544
18	677337	T	G	18	677337	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.681105696187293	0.726
18	677338	T	A	18	677338	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.75664698950326E-4	0.122
18	677338	T	C	18	677338	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.2523957057284E-4	0.008
18	677338	T	G	18	677338	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.1410782814676E-5	0.002
18	677339	A	C	18	677339	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.994703122558817	0.78
18	677339	A	G	18	677339	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.92364443981617	0.818
18	677339	A	T	18	677339	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.962279531450469	0.808
18	677340	C	A	18	677340	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999962648538123	0.834
18	677340	C	G	18	677340	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999952599053126	0.956
18	677340	C	T	18	677340	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999967032566176	0.87
18	677341	T	A	18	677341	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.995084743024951	0.756
18	677341	T	C	18	677341	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.993796687375982	0.764
18	677341	T	G	18	677341	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99284441196376	0.794
18	677342	G	A	18	677342	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.43108070967324E-4	0.026
18	677342	G	C	18	677342	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.62284186749724E-4	0.05
18	677342	G	T	18	677342	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.72195204436533E-4	0.06
18	677343	A	C	18	677343	y	y	splicing	ENOSF1(NM_001126123:exon14:c.902+2T>G;NM_017512:exon15:c.1148+2T>G;NM_202758:exon14:c.1169+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.902+2T>G;ENST00000319815:exon7:c.458+2T>G;ENST00000251101:exon15:c.1148+2T>G;ENST00000581475:exon13:c.1150+2T>G;ENST00000340116:exon14:c.1169+2T>G;ENST00000580982:exon12:c.920+2T>G;ENST00000585128:exon14:c.968+2T>G;ENST00000584453:exon14:c.1075+2T>G)	.	.	0.999988247793601	0.928
18	677343	A	G	18	677343	y	y	splicing	ENOSF1(NM_001126123:exon14:c.902+2T>C;NM_017512:exon15:c.1148+2T>C;NM_202758:exon14:c.1169+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.902+2T>C;ENST00000319815:exon7:c.458+2T>C;ENST00000251101:exon15:c.1148+2T>C;ENST00000581475:exon13:c.1150+2T>C;ENST00000340116:exon14:c.1169+2T>C;ENST00000580982:exon12:c.920+2T>C;ENST00000585128:exon14:c.968+2T>C;ENST00000584453:exon14:c.1075+2T>C)	.	.	0.99231226973403	0.682
18	677343	A	T	18	677343	y	y	splicing	ENOSF1(NM_001126123:exon14:c.902+2T>A;NM_017512:exon15:c.1148+2T>A;NM_202758:exon14:c.1169+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.902+2T>A;ENST00000319815:exon7:c.458+2T>A;ENST00000251101:exon15:c.1148+2T>A;ENST00000581475:exon13:c.1150+2T>A;ENST00000340116:exon14:c.1169+2T>A;ENST00000580982:exon12:c.920+2T>A;ENST00000585128:exon14:c.968+2T>A;ENST00000584453:exon14:c.1075+2T>A)	.	.	0.999988247793601	0.928
18	677344	C	A	18	677344	y	y	splicing	ENOSF1(NM_001126123:exon14:c.902+1G>T;NM_017512:exon15:c.1148+1G>T;NM_202758:exon14:c.1169+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.902+1G>T;ENST00000319815:exon7:c.458+1G>T;ENST00000251101:exon15:c.1148+1G>T;ENST00000581475:exon13:c.1150+1G>T;ENST00000340116:exon14:c.1169+1G>T;ENST00000580982:exon12:c.920+1G>T;ENST00000585128:exon14:c.968+1G>T;ENST00000584453:exon14:c.1075+1G>T)	.	.	0.999990361384395	0.938
18	677344	C	G	18	677344	y	y	splicing	ENOSF1(NM_001126123:exon14:c.902+1G>C;NM_017512:exon15:c.1148+1G>C;NM_202758:exon14:c.1169+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.902+1G>C;ENST00000319815:exon7:c.458+1G>C;ENST00000251101:exon15:c.1148+1G>C;ENST00000581475:exon13:c.1150+1G>C;ENST00000340116:exon14:c.1169+1G>C;ENST00000580982:exon12:c.920+1G>C;ENST00000585128:exon14:c.968+1G>C;ENST00000584453:exon14:c.1075+1G>C)	.	.	0.999990361384395	0.938
18	677344	C	T	18	677344	y	y	splicing	ENOSF1(NM_001126123:exon14:c.902+1G>A;NM_017512:exon15:c.1148+1G>A;NM_202758:exon14:c.1169+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.902+1G>A;ENST00000319815:exon7:c.458+1G>A;ENST00000251101:exon15:c.1148+1G>A;ENST00000581475:exon13:c.1150+1G>A;ENST00000340116:exon14:c.1169+1G>A;ENST00000580982:exon12:c.920+1G>A;ENST00000585128:exon14:c.968+1G>A;ENST00000584453:exon14:c.1075+1G>A)	.	.	0.999990361384395	0.938
18	677345	C	A	18	677345	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.G1148T:p.R383M;ENOSF1:NM_001126123:exon13:c.G902T:p.R301M;ENOSF1:NM_202758:exon13:c.G1169T:p.R390M;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.G458T:p.R153M;ENSG00000132199:ENST00000251101:exon14:c.G1148T:p.R383M;ENSG00000132199:ENST00000383578:exon13:c.G902T:p.R301M;ENSG00000132199:ENST00000580982:exon11:c.G920T:p.R307M;ENSG00000132199:ENST00000340116:exon13:c.G1169T:p.R390M;	0.999993057001721	0.998
18	677345	C	G	18	677345	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.G1148C:p.R383T;ENOSF1:NM_001126123:exon13:c.G902C:p.R301T;ENOSF1:NM_202758:exon13:c.G1169C:p.R390T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.G458C:p.R153T;ENSG00000132199:ENST00000251101:exon14:c.G1148C:p.R383T;ENSG00000132199:ENST00000383578:exon13:c.G902C:p.R301T;ENSG00000132199:ENST00000580982:exon11:c.G920C:p.R307T;ENSG00000132199:ENST00000340116:exon13:c.G1169C:p.R390T;	0.99999721398396	0.998
18	677345	C	T	18	677345	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.G1148A:p.R383K;ENOSF1:NM_001126123:exon13:c.G902A:p.R301K;ENOSF1:NM_202758:exon13:c.G1169A:p.R390K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.G458A:p.R153K;ENSG00000132199:ENST00000251101:exon14:c.G1148A:p.R383K;ENSG00000132199:ENST00000383578:exon13:c.G902A:p.R301K;ENSG00000132199:ENST00000580982:exon11:c.G920A:p.R307K;ENSG00000132199:ENST00000340116:exon13:c.G1169A:p.R390K;	0.999990888528506	0.994
18	677346	T	A	18	677346	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.A1147T:p.R383W;ENOSF1:NM_001126123:exon13:c.A901T:p.R301W;ENOSF1:NM_202758:exon13:c.A1168T:p.R390W;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.A457T:p.R153W;ENSG00000132199:ENST00000251101:exon14:c.A1147T:p.R383W;ENSG00000132199:ENST00000383578:exon13:c.A901T:p.R301W;ENSG00000132199:ENST00000580982:exon11:c.A919T:p.R307W;ENSG00000132199:ENST00000340116:exon13:c.A1168T:p.R390W;	0.999302465165192	0.978
18	677346	T	C	18	677346	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.A1147G:p.R383G;ENOSF1:NM_001126123:exon13:c.A901G:p.R301G;ENOSF1:NM_202758:exon13:c.A1168G:p.R390G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.A457G:p.R153G;ENSG00000132199:ENST00000251101:exon14:c.A1147G:p.R383G;ENSG00000132199:ENST00000383578:exon13:c.A901G:p.R301G;ENSG00000132199:ENST00000580982:exon11:c.A919G:p.R307G;ENSG00000132199:ENST00000340116:exon13:c.A1168G:p.R390G;	0.998650158976066	0.952
18	677346	T	G	18	677346	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon14:c.A1147C:p.R383R;ENOSF1:NM_001126123:exon13:c.A901C:p.R301R;ENOSF1:NM_202758:exon13:c.A1168C:p.R390R;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.A457C:p.R153R;ENSG00000132199:ENST00000251101:exon14:c.A1147C:p.R383R;ENSG00000132199:ENST00000383578:exon13:c.A901C:p.R301R;ENSG00000132199:ENST00000580982:exon11:c.A919C:p.R307R;ENSG00000132199:ENST00000340116:exon13:c.A1168C:p.R390R;	0.962973353158761	0.902
18	677347	A	C	18	677347	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.T1146G:p.N382K;ENOSF1:NM_001126123:exon13:c.T900G:p.N300K;ENOSF1:NM_202758:exon13:c.T1167G:p.N389K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T456G:p.N152K;ENSG00000132199:ENST00000251101:exon14:c.T1146G:p.N382K;ENSG00000132199:ENST00000383578:exon13:c.T900G:p.N300K;ENSG00000132199:ENST00000580982:exon11:c.T918G:p.N306K;ENSG00000132199:ENST00000340116:exon13:c.T1167G:p.N389K;	6.14768305251133E-4	0.036
18	677347	A	G	18	677347	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon14:c.T1146C:p.N382N;ENOSF1:NM_001126123:exon13:c.T900C:p.N300N;ENOSF1:NM_202758:exon13:c.T1167C:p.N389N;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T456C:p.N152N;ENSG00000132199:ENST00000251101:exon14:c.T1146C:p.N382N;ENSG00000132199:ENST00000383578:exon13:c.T900C:p.N300N;ENSG00000132199:ENST00000580982:exon11:c.T918C:p.N306N;ENSG00000132199:ENST00000340116:exon13:c.T1167C:p.N389N;	0.00109289327807785	0.068
18	677347	A	T	18	677347	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.T1146A:p.N382K;ENOSF1:NM_001126123:exon13:c.T900A:p.N300K;ENOSF1:NM_202758:exon13:c.T1167A:p.N389K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T456A:p.N152K;ENSG00000132199:ENST00000251101:exon14:c.T1146A:p.N382K;ENSG00000132199:ENST00000383578:exon13:c.T900A:p.N300K;ENSG00000132199:ENST00000580982:exon11:c.T918A:p.N306K;ENSG00000132199:ENST00000340116:exon13:c.T1167A:p.N389K;	2.13948683965955E-4	0.006
18	677443	A	C	18	677443	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.T1050G:p.I350M;ENOSF1:NM_001126123:exon13:c.T804G:p.I268M;ENOSF1:NM_202758:exon13:c.T1071G:p.I357M;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T360G:p.I120M;ENSG00000132199:ENST00000251101:exon14:c.T1050G:p.I350M;ENSG00000132199:ENST00000383578:exon13:c.T804G:p.I268M;ENSG00000132199:ENST00000580982:exon11:c.T822G:p.I274M;ENSG00000132199:ENST00000340116:exon13:c.T1071G:p.I357M;	0.0103059675644004	0.14
18	677443	A	G	18	677443	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon14:c.T1050C:p.I350I;ENOSF1:NM_001126123:exon13:c.T804C:p.I268I;ENOSF1:NM_202758:exon13:c.T1071C:p.I357I;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T360C:p.I120I;ENSG00000132199:ENST00000251101:exon14:c.T1050C:p.I350I;ENSG00000132199:ENST00000383578:exon13:c.T804C:p.I268I;ENSG00000132199:ENST00000580982:exon11:c.T822C:p.I274I;ENSG00000132199:ENST00000340116:exon13:c.T1071C:p.I357I;	0.00124350042153847	0.108
18	677443	A	T	18	677443	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon14:c.T1050A:p.I350I;ENOSF1:NM_001126123:exon13:c.T804A:p.I268I;ENOSF1:NM_202758:exon13:c.T1071A:p.I357I;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T360A:p.I120I;ENSG00000132199:ENST00000251101:exon14:c.T1050A:p.I350I;ENSG00000132199:ENST00000383578:exon13:c.T804A:p.I268I;ENSG00000132199:ENST00000580982:exon11:c.T822A:p.I274I;ENSG00000132199:ENST00000340116:exon13:c.T1071A:p.I357I;	0.00385430217105842	0.124
18	677444	A	C	18	677444	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.T1049G:p.I350S;ENOSF1:NM_001126123:exon13:c.T803G:p.I268S;ENOSF1:NM_202758:exon13:c.T1070G:p.I357S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T359G:p.I120S;ENSG00000132199:ENST00000251101:exon14:c.T1049G:p.I350S;ENSG00000132199:ENST00000383578:exon13:c.T803G:p.I268S;ENSG00000132199:ENST00000580982:exon11:c.T821G:p.I274S;ENSG00000132199:ENST00000340116:exon13:c.T1070G:p.I357S;	0.832631250642089	0.606
18	677444	A	G	18	677444	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.T1049C:p.I350T;ENOSF1:NM_001126123:exon13:c.T803C:p.I268T;ENOSF1:NM_202758:exon13:c.T1070C:p.I357T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T359C:p.I120T;ENSG00000132199:ENST00000251101:exon14:c.T1049C:p.I350T;ENSG00000132199:ENST00000383578:exon13:c.T803C:p.I268T;ENSG00000132199:ENST00000580982:exon11:c.T821C:p.I274T;ENSG00000132199:ENST00000340116:exon13:c.T1070C:p.I357T;	0.960775158545448	0.588
18	677444	A	T	18	677444	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon14:c.T1049A:p.I350N;ENOSF1:NM_001126123:exon13:c.T803A:p.I268N;ENOSF1:NM_202758:exon13:c.T1070A:p.I357N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon6:c.T359A:p.I120N;ENSG00000132199:ENST00000251101:exon14:c.T1049A:p.I350N;ENSG00000132199:ENST00000383578:exon13:c.T803A:p.I268N;ENSG00000132199:ENST00000580982:exon11:c.T821A:p.I274N;ENSG00000132199:ENST00000340116:exon13:c.T1070A:p.I357N;	0.724431715236023	0.59
18	677445	C	A	18	677445	y	y	splicing	ENOSF1(NM_001126123:exon14:c.803-1G>T;NM_017512:exon15:c.1049-1G>T;NM_202758:exon14:c.1070-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.803-1G>T;ENST00000319815:exon7:c.359-1G>T;ENST00000251101:exon15:c.1049-1G>T;ENST00000581475:exon13:c.1051-1G>T;ENST00000340116:exon14:c.1070-1G>T;ENST00000580982:exon12:c.821-1G>T;ENST00000585128:exon14:c.869-1G>T;ENST00000584453:exon14:c.976-1G>T)	.	.	0.999990361384395	0.942
18	677445	C	G	18	677445	y	y	splicing	ENOSF1(NM_001126123:exon14:c.803-1G>C;NM_017512:exon15:c.1049-1G>C;NM_202758:exon14:c.1070-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.803-1G>C;ENST00000319815:exon7:c.359-1G>C;ENST00000251101:exon15:c.1049-1G>C;ENST00000581475:exon13:c.1051-1G>C;ENST00000340116:exon14:c.1070-1G>C;ENST00000580982:exon12:c.821-1G>C;ENST00000585128:exon14:c.869-1G>C;ENST00000584453:exon14:c.976-1G>C)	.	.	0.999990361384395	0.942
18	677445	C	T	18	677445	y	y	splicing	ENOSF1(NM_001126123:exon14:c.803-1G>A;NM_017512:exon15:c.1049-1G>A;NM_202758:exon14:c.1070-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.803-1G>A;ENST00000319815:exon7:c.359-1G>A;ENST00000251101:exon15:c.1049-1G>A;ENST00000581475:exon13:c.1051-1G>A;ENST00000340116:exon14:c.1070-1G>A;ENST00000580982:exon12:c.821-1G>A;ENST00000585128:exon14:c.869-1G>A;ENST00000584453:exon14:c.976-1G>A)	.	.	0.999990361384395	0.942
18	677446	T	A	18	677446	y	y	splicing	ENOSF1(NM_001126123:exon14:c.803-2A>T;NM_017512:exon15:c.1049-2A>T;NM_202758:exon14:c.1070-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.803-2A>T;ENST00000319815:exon7:c.359-2A>T;ENST00000251101:exon15:c.1049-2A>T;ENST00000581475:exon13:c.1051-2A>T;ENST00000340116:exon14:c.1070-2A>T;ENST00000580982:exon12:c.821-2A>T;ENST00000585128:exon14:c.869-2A>T;ENST00000584453:exon14:c.976-2A>T)	.	.	0.999988247793601	0.94
18	677446	T	C	18	677446	y	y	splicing	ENOSF1(NM_001126123:exon14:c.803-2A>G;NM_017512:exon15:c.1049-2A>G;NM_202758:exon14:c.1070-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.803-2A>G;ENST00000319815:exon7:c.359-2A>G;ENST00000251101:exon15:c.1049-2A>G;ENST00000581475:exon13:c.1051-2A>G;ENST00000340116:exon14:c.1070-2A>G;ENST00000580982:exon12:c.821-2A>G;ENST00000585128:exon14:c.869-2A>G;ENST00000584453:exon14:c.976-2A>G)	.	.	0.999978952611685	0.94
18	677446	T	G	18	677446	y	y	splicing	ENOSF1(NM_001126123:exon14:c.803-2A>C;NM_017512:exon15:c.1049-2A>C;NM_202758:exon14:c.1070-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon14:c.803-2A>C;ENST00000319815:exon7:c.359-2A>C;ENST00000251101:exon15:c.1049-2A>C;ENST00000581475:exon13:c.1051-2A>C;ENST00000340116:exon14:c.1070-2A>C;ENST00000580982:exon12:c.821-2A>C;ENST00000585128:exon14:c.869-2A>C;ENST00000584453:exon14:c.976-2A>C)	.	.	0.999978952611685	0.94
18	677447	A	C	18	677447	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.996510887357699	0.708
18	677447	A	G	18	677447	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.26630452860168E-4	0.026
18	677447	A	T	18	677447	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.304612233584847	0.39
18	677448	A	C	18	677448	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.97036201058368E-4	0.052
18	677448	A	G	18	677448	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.0276103252492E-5	0.026
18	677448	A	T	18	677448	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.25529445101897E-4	0.036
18	677449	A	C	18	677449	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.976844169028507	0.594
18	677449	A	G	18	677449	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0300020920415988	0.184
18	677449	A	T	18	677449	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.970098921354522	0.61
18	677450	A	C	18	677450	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.973856769903017	0.654
18	677450	A	G	18	677450	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.26964155816701E-4	0.032
18	677450	A	T	18	677450	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.556643215311365	0.522
18	677451	G	A	18	677451	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.99903403644253E-5	0.0
18	677451	G	C	18	677451	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00104390225168576	0.05
18	677451	G	T	18	677451	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.21744789556032E-4	0.038
18	677452	G	A	18	677452	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.7955502177305E-5	0.004
18	677452	G	C	18	677452	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00199473196268657	0.056
18	677452	G	T	18	677452	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00148032663703763	0.136
18	677453	A	C	18	677453	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0351024570073439	0.446
18	677453	A	G	18	677453	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00316753822827792	0.1
18	677453	A	T	18	677453	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.935300468154715	0.678
18	677454	A	C	18	677454	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.756275404354597	0.586
18	677454	A	G	18	677454	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0311980705768479	0.272
18	677454	A	T	18	677454	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.961998972723296	0.638
18	677455	A	C	18	677455	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999522534962148	0.922
18	677455	A	G	18	677455	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0125149982895719	0.138
18	677455	A	T	18	677455	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.185134766102765	0.296
18	677456	T	A	18	677456	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.00684534904205E-5	0.014
18	677456	T	C	18	677456	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.23794270186676E-4	0.05
18	677456	T	G	18	677456	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.20483758077956E-5	0.0
18	677735	A	C	18	677735	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.40188687205267E-5	0.0
18	677735	A	G	18	677735	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.25186833610499E-5	0.004
18	677735	A	T	18	677735	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.76909646041071E-5	0.004
18	677736	C	A	18	677736	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.44482526574944E-4	0.03
18	677736	C	G	18	677736	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.9989142581679E-5	0.0
18	677736	C	T	18	677736	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.62940937607154E-5	0.0
18	677737	G	A	18	677737	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.16288518582608E-6	0.008
18	677737	G	C	18	677737	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.33150565469262E-4	0.064
18	677737	G	T	18	677737	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0011266059974172	0.07
18	677738	C	A	18	677738	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999980845398425	0.998
18	677738	C	G	18	677738	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99944465093918	0.942
18	677738	C	T	18	677738	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99995914406465	0.978
18	677739	T	A	18	677739	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.995698904037314	0.908
18	677739	T	C	18	677739	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99348442979664	0.934
18	677739	T	G	18	677739	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.951608760405609	0.73
18	677740	T	A	18	677740	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999879626076402	0.968
18	677740	T	C	18	677740	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.293325349353236	0.45
18	677740	T	G	18	677740	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999829186084871	0.944
18	677741	A	C	18	677741	y	y	splicing	ENOSF1(NM_001126123:exon13:c.802+2T>G;NM_017512:exon14:c.1048+2T>G;NM_202758:exon13:c.1069+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.802+2T>G;ENST00000319815:exon6:c.358+2T>G;ENST00000251101:exon14:c.1048+2T>G;ENST00000581475:exon12:c.1050+2T>G;ENST00000340116:exon13:c.1069+2T>G;ENST00000580982:exon11:c.820+2T>G;ENST00000585128:exon13:c.868+2T>G;ENST00000584453:exon13:c.975+2T>G)	.	.	0.999988247793601	0.95
18	677741	A	G	18	677741	y	y	splicing	ENOSF1(NM_001126123:exon13:c.802+2T>C;NM_017512:exon14:c.1048+2T>C;NM_202758:exon13:c.1069+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.802+2T>C;ENST00000319815:exon6:c.358+2T>C;ENST00000251101:exon14:c.1048+2T>C;ENST00000581475:exon12:c.1050+2T>C;ENST00000340116:exon13:c.1069+2T>C;ENST00000580982:exon11:c.820+2T>C;ENST00000585128:exon13:c.868+2T>C;ENST00000584453:exon13:c.975+2T>C)	.	.	0.99231226973403	0.694
18	677741	A	T	18	677741	y	y	splicing	ENOSF1(NM_001126123:exon13:c.802+2T>A;NM_017512:exon14:c.1048+2T>A;NM_202758:exon13:c.1069+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.802+2T>A;ENST00000319815:exon6:c.358+2T>A;ENST00000251101:exon14:c.1048+2T>A;ENST00000581475:exon12:c.1050+2T>A;ENST00000340116:exon13:c.1069+2T>A;ENST00000580982:exon11:c.820+2T>A;ENST00000585128:exon13:c.868+2T>A;ENST00000584453:exon13:c.975+2T>A)	.	.	0.999988247793601	0.95
18	677742	C	A	18	677742	y	y	splicing	ENOSF1(NM_001126123:exon13:c.802+1G>T;NM_017512:exon14:c.1048+1G>T;NM_202758:exon13:c.1069+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.802+1G>T;ENST00000319815:exon6:c.358+1G>T;ENST00000251101:exon14:c.1048+1G>T;ENST00000581475:exon12:c.1050+1G>T;ENST00000340116:exon13:c.1069+1G>T;ENST00000580982:exon11:c.820+1G>T;ENST00000585128:exon13:c.868+1G>T;ENST00000584453:exon13:c.975+1G>T)	.	.	0.999990361384395	0.946
18	677742	C	G	18	677742	y	y	splicing	ENOSF1(NM_001126123:exon13:c.802+1G>C;NM_017512:exon14:c.1048+1G>C;NM_202758:exon13:c.1069+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.802+1G>C;ENST00000319815:exon6:c.358+1G>C;ENST00000251101:exon14:c.1048+1G>C;ENST00000581475:exon12:c.1050+1G>C;ENST00000340116:exon13:c.1069+1G>C;ENST00000580982:exon11:c.820+1G>C;ENST00000585128:exon13:c.868+1G>C;ENST00000584453:exon13:c.975+1G>C)	.	.	0.999990361384395	0.948
18	677742	C	T	18	677742	y	y	splicing	ENOSF1(NM_001126123:exon13:c.802+1G>A;NM_017512:exon14:c.1048+1G>A;NM_202758:exon13:c.1069+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.802+1G>A;ENST00000319815:exon6:c.358+1G>A;ENST00000251101:exon14:c.1048+1G>A;ENST00000581475:exon12:c.1050+1G>A;ENST00000340116:exon13:c.1069+1G>A;ENST00000580982:exon11:c.820+1G>A;ENST00000585128:exon13:c.868+1G>A;ENST00000584453:exon13:c.975+1G>A)	.	.	0.999990361384395	0.948
18	677743	T	A	18	677743	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.A1048T:p.I350F;ENOSF1:NM_001126123:exon12:c.A802T:p.I268F;ENOSF1:NM_202758:exon12:c.A1069T:p.I357F;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A358T:p.I120F;ENSG00000132199:ENST00000251101:exon13:c.A1048T:p.I350F;ENSG00000132199:ENST00000383578:exon12:c.A802T:p.I268F;ENSG00000132199:ENST00000580982:exon10:c.A820T:p.I274F;ENSG00000132199:ENST00000340116:exon12:c.A1069T:p.I357F;	0.979510303419507	0.72
18	677743	T	C	18	677743	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.A1048G:p.I350V;ENOSF1:NM_001126123:exon12:c.A802G:p.I268V;ENOSF1:NM_202758:exon12:c.A1069G:p.I357V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A358G:p.I120V;ENSG00000132199:ENST00000251101:exon13:c.A1048G:p.I350V;ENSG00000132199:ENST00000383578:exon12:c.A802G:p.I268V;ENSG00000132199:ENST00000580982:exon10:c.A820G:p.I274V;ENSG00000132199:ENST00000340116:exon12:c.A1069G:p.I357V;	1.63148708311949E-4	0.106
18	677743	T	G	18	677743	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.A1048C:p.I350L;ENOSF1:NM_001126123:exon12:c.A802C:p.I268L;ENOSF1:NM_202758:exon12:c.A1069C:p.I357L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A358C:p.I120L;ENSG00000132199:ENST00000251101:exon13:c.A1048C:p.I350L;ENSG00000132199:ENST00000383578:exon12:c.A802C:p.I268L;ENSG00000132199:ENST00000580982:exon10:c.A820C:p.I274L;ENSG00000132199:ENST00000340116:exon12:c.A1069C:p.I357L;	0.857205564625748	0.688
18	677744	T	A	18	677744	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.A1047T:p.E349D;ENOSF1:NM_001126123:exon12:c.A801T:p.E267D;ENOSF1:NM_202758:exon12:c.A1068T:p.E356D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A357T:p.E119D;ENSG00000132199:ENST00000251101:exon13:c.A1047T:p.E349D;ENSG00000132199:ENST00000383578:exon12:c.A801T:p.E267D;ENSG00000132199:ENST00000580982:exon10:c.A819T:p.E273D;ENSG00000132199:ENST00000340116:exon12:c.A1068T:p.E356D;	0.964636743839391	0.742
18	677744	T	C	18	677744	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon13:c.A1047G:p.E349E;ENOSF1:NM_001126123:exon12:c.A801G:p.E267E;ENOSF1:NM_202758:exon12:c.A1068G:p.E356E;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A357G:p.E119E;ENSG00000132199:ENST00000251101:exon13:c.A1047G:p.E349E;ENSG00000132199:ENST00000383578:exon12:c.A801G:p.E267E;ENSG00000132199:ENST00000580982:exon10:c.A819G:p.E273E;ENSG00000132199:ENST00000340116:exon12:c.A1068G:p.E356E;	0.939805107067796	0.7
18	677744	T	G	18	677744	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.A1047C:p.E349D;ENOSF1:NM_001126123:exon12:c.A801C:p.E267D;ENOSF1:NM_202758:exon12:c.A1068C:p.E356D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A357C:p.E119D;ENSG00000132199:ENST00000251101:exon13:c.A1047C:p.E349D;ENSG00000132199:ENST00000383578:exon12:c.A801C:p.E267D;ENSG00000132199:ENST00000580982:exon10:c.A819C:p.E273D;ENSG00000132199:ENST00000340116:exon12:c.A1068C:p.E356D;	0.715279124107362	0.584
18	677745	T	A	18	677745	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.A1046T:p.E349V;ENOSF1:NM_001126123:exon12:c.A800T:p.E267V;ENOSF1:NM_202758:exon12:c.A1067T:p.E356V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A356T:p.E119V;ENSG00000132199:ENST00000251101:exon13:c.A1046T:p.E349V;ENSG00000132199:ENST00000383578:exon12:c.A800T:p.E267V;ENSG00000132199:ENST00000580982:exon10:c.A818T:p.E273V;ENSG00000132199:ENST00000340116:exon12:c.A1067T:p.E356V;	0.270728910128663	0.438
18	677745	T	C	18	677745	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.A1046G:p.E349G;ENOSF1:NM_001126123:exon12:c.A800G:p.E267G;ENOSF1:NM_202758:exon12:c.A1067G:p.E356G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A356G:p.E119G;ENSG00000132199:ENST00000251101:exon13:c.A1046G:p.E349G;ENSG00000132199:ENST00000383578:exon12:c.A800G:p.E267G;ENSG00000132199:ENST00000580982:exon10:c.A818G:p.E273G;ENSG00000132199:ENST00000340116:exon12:c.A1067G:p.E356G;	0.00244221851159621	0.08
18	677745	T	G	18	677745	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.A1046C:p.E349A;ENOSF1:NM_001126123:exon12:c.A800C:p.E267A;ENOSF1:NM_202758:exon12:c.A1067C:p.E356A;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.A356C:p.E119A;ENSG00000132199:ENST00000251101:exon13:c.A1046C:p.E349A;ENSG00000132199:ENST00000383578:exon12:c.A800C:p.E267A;ENSG00000132199:ENST00000580982:exon10:c.A818C:p.E273A;ENSG00000132199:ENST00000340116:exon12:c.A1067C:p.E356A;	1.44675195283158E-5	0.102
18	677871	C	A	18	677871	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.G920T:p.C307F;ENOSF1:NM_001126123:exon12:c.G674T:p.C225F;ENOSF1:NM_202758:exon12:c.G941T:p.C314F;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.G230T:p.C77F;ENSG00000132199:ENST00000251101:exon13:c.G920T:p.C307F;ENSG00000132199:ENST00000383578:exon12:c.G674T:p.C225F;ENSG00000132199:ENST00000580982:exon10:c.G692T:p.C231F;ENSG00000132199:ENST00000340116:exon12:c.G941T:p.C314F;	0.980738302444458	0.856
18	677871	C	G	18	677871	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.G920C:p.C307S;ENOSF1:NM_001126123:exon12:c.G674C:p.C225S;ENOSF1:NM_202758:exon12:c.G941C:p.C314S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.G230C:p.C77S;ENSG00000132199:ENST00000251101:exon13:c.G920C:p.C307S;ENSG00000132199:ENST00000383578:exon12:c.G674C:p.C225S;ENSG00000132199:ENST00000580982:exon10:c.G692C:p.C231S;ENSG00000132199:ENST00000340116:exon12:c.G941C:p.C314S;	0.964978443904612	0.864
18	677871	C	T	18	677871	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.G920A:p.C307Y;ENOSF1:NM_001126123:exon12:c.G674A:p.C225Y;ENOSF1:NM_202758:exon12:c.G941A:p.C314Y;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.G230A:p.C77Y;ENSG00000132199:ENST00000251101:exon13:c.G920A:p.C307Y;ENSG00000132199:ENST00000383578:exon12:c.G674A:p.C225Y;ENSG00000132199:ENST00000580982:exon10:c.G692A:p.C231Y;ENSG00000132199:ENST00000340116:exon12:c.G941A:p.C314Y;	0.991077204902253	0.832
18	677872	A	C	18	677872	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.T919G:p.C307G;ENOSF1:NM_001126123:exon12:c.T673G:p.C225G;ENOSF1:NM_202758:exon12:c.T940G:p.C314G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.T229G:p.C77G;ENSG00000132199:ENST00000251101:exon13:c.T919G:p.C307G;ENSG00000132199:ENST00000383578:exon12:c.T673G:p.C225G;ENSG00000132199:ENST00000580982:exon10:c.T691G:p.C231G;ENSG00000132199:ENST00000340116:exon12:c.T940G:p.C314G;	0.78402916106347	0.618
18	677872	A	G	18	677872	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.T919C:p.C307R;ENOSF1:NM_001126123:exon12:c.T673C:p.C225R;ENOSF1:NM_202758:exon12:c.T940C:p.C314R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.T229C:p.C77R;ENSG00000132199:ENST00000251101:exon13:c.T919C:p.C307R;ENSG00000132199:ENST00000383578:exon12:c.T673C:p.C225R;ENSG00000132199:ENST00000580982:exon10:c.T691C:p.C231R;ENSG00000132199:ENST00000340116:exon12:c.T940C:p.C314R;	0.981392643179099	0.776
18	677872	A	T	18	677872	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon13:c.T919A:p.C307S;ENOSF1:NM_001126123:exon12:c.T673A:p.C225S;ENOSF1:NM_202758:exon12:c.T940A:p.C314S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon5:c.T229A:p.C77S;ENSG00000132199:ENST00000251101:exon13:c.T919A:p.C307S;ENSG00000132199:ENST00000383578:exon12:c.T673A:p.C225S;ENSG00000132199:ENST00000580982:exon10:c.T691A:p.C231S;ENSG00000132199:ENST00000340116:exon12:c.T940A:p.C314S;	0.743308528622722	0.68
18	677873	C	A	18	677873	y	y	splicing	ENOSF1(NM_001126123:exon13:c.673-1G>T;NM_017512:exon14:c.919-1G>T;NM_202758:exon13:c.940-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.673-1G>T;ENST00000319815:exon6:c.229-1G>T;ENST00000251101:exon14:c.919-1G>T;ENST00000581475:exon12:c.921-1G>T;ENST00000340116:exon13:c.940-1G>T;ENST00000580982:exon11:c.691-1G>T;ENST00000585128:exon13:c.739-1G>T;ENST00000584453:exon13:c.846-1G>T)	.	.	0.999992425382947	0.938
18	677873	C	G	18	677873	y	y	splicing	ENOSF1(NM_001126123:exon13:c.673-1G>C;NM_017512:exon14:c.919-1G>C;NM_202758:exon13:c.940-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.673-1G>C;ENST00000319815:exon6:c.229-1G>C;ENST00000251101:exon14:c.919-1G>C;ENST00000581475:exon12:c.921-1G>C;ENST00000340116:exon13:c.940-1G>C;ENST00000580982:exon11:c.691-1G>C;ENST00000585128:exon13:c.739-1G>C;ENST00000584453:exon13:c.846-1G>C)	.	.	0.999986434340258	0.936
18	677873	C	T	18	677873	y	y	splicing	ENOSF1(NM_001126123:exon13:c.673-1G>A;NM_017512:exon14:c.919-1G>A;NM_202758:exon13:c.940-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.673-1G>A;ENST00000319815:exon6:c.229-1G>A;ENST00000251101:exon14:c.919-1G>A;ENST00000581475:exon12:c.921-1G>A;ENST00000340116:exon13:c.940-1G>A;ENST00000580982:exon11:c.691-1G>A;ENST00000585128:exon13:c.739-1G>A;ENST00000584453:exon13:c.846-1G>A)	.	.	0.999992425382947	0.938
18	677874	T	A	18	677874	y	y	splicing	ENOSF1(NM_001126123:exon13:c.673-2A>T;NM_017512:exon14:c.919-2A>T;NM_202758:exon13:c.940-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.673-2A>T;ENST00000319815:exon6:c.229-2A>T;ENST00000251101:exon14:c.919-2A>T;ENST00000581475:exon12:c.921-2A>T;ENST00000340116:exon13:c.940-2A>T;ENST00000580982:exon11:c.691-2A>T;ENST00000585128:exon13:c.739-2A>T;ENST00000584453:exon13:c.846-2A>T)	.	.	0.999983459627143	0.936
18	677874	T	C	18	677874	y	y	splicing	ENOSF1(NM_001126123:exon13:c.673-2A>G;NM_017512:exon14:c.919-2A>G;NM_202758:exon13:c.940-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.673-2A>G;ENST00000319815:exon6:c.229-2A>G;ENST00000251101:exon14:c.919-2A>G;ENST00000581475:exon12:c.921-2A>G;ENST00000340116:exon13:c.940-2A>G;ENST00000580982:exon11:c.691-2A>G;ENST00000585128:exon13:c.739-2A>G;ENST00000584453:exon13:c.846-2A>G)	.	.	0.99997694424406	0.934
18	677874	T	G	18	677874	y	y	splicing	ENOSF1(NM_001126123:exon13:c.673-2A>C;NM_017512:exon14:c.919-2A>C;NM_202758:exon13:c.940-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon13:c.673-2A>C;ENST00000319815:exon6:c.229-2A>C;ENST00000251101:exon14:c.919-2A>C;ENST00000581475:exon12:c.921-2A>C;ENST00000340116:exon13:c.940-2A>C;ENST00000580982:exon11:c.691-2A>C;ENST00000585128:exon13:c.739-2A>C;ENST00000584453:exon13:c.846-2A>C)	.	.	0.99997694424406	0.934
18	677875	G	A	18	677875	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0150059279705585	0.348
18	677875	G	C	18	677875	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.998433308335089	0.746
18	677875	G	T	18	677875	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.813359024876714	0.734
18	677876	G	A	18	677876	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.41399493848605E-5	0.004
18	677876	G	C	18	677876	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.57126650067916E-4	0.102
18	677876	G	T	18	677876	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.44011913409858E-4	0.008
18	677877	A	C	18	677877	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.526953215492493	0.49
18	677877	A	G	18	677877	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0108897849431678	0.15
18	677877	A	T	18	677877	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.279024555643553	0.474
18	677878	A	C	18	677878	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.470227930725243	0.506
18	677878	A	G	18	677878	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.67172535283812E-4	0.022
18	677878	A	T	18	677878	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.244931437194917	0.474
18	677879	A	C	18	677879	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999883794843849	0.994
18	677879	A	G	18	677879	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00110720427161565	0.018
18	677879	A	T	18	677879	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.201640768801436	0.46
18	677880	T	A	18	677880	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.230898211058E-5	0.0
18	677880	T	C	18	677880	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.54074382803949E-5	0.0
18	677880	T	G	18	677880	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.91157645574935E-5	0.0
18	677881	A	C	18	677881	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.293899121383036	0.498
18	677881	A	G	18	677881	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00202409634518085	0.128
18	677881	A	T	18	677881	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.662175621462013	0.522
18	677882	G	A	18	677882	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.51194597019964E-5	0.0
18	677882	G	C	18	677882	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.90169910893549E-4	0.034
18	677882	G	T	18	677882	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.61219160987395E-4	0.066
18	677883	A	C	18	677883	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.854023937881815	0.49
18	677883	A	G	18	677883	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0243991495848919	0.224
18	677883	A	T	18	677883	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.985972096501501	0.612
18	677884	A	C	18	677884	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999184208044101	0.958
18	677884	A	G	18	677884	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00108847301797539	0.056
18	677884	A	T	18	677884	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0348835122052281	0.424
18	678688	T	A	18	678688	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.33815804894828E-5	0.0
18	678688	T	C	18	678688	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.33815804894828E-5	0.0
18	678688	T	G	18	678688	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.33815804894828E-5	0.0
18	678689	C	A	18	678689	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.10138825602451E-5	0.004
18	678689	C	G	18	678689	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.10138825602451E-5	0.002
18	678689	C	T	18	678689	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.8840742393182E-5	0.002
18	678690	A	C	18	678690	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.00961143325455E-4	0.012
18	678690	A	G	18	678690	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.00961143325455E-4	0.04
18	678690	A	T	18	678690	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.51591174045998E-4	0.008
18	678691	C	A	18	678691	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.03056377962419E-4	0.014
18	678691	C	G	18	678691	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.03056377962419E-4	0.014
18	678691	C	T	18	678691	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.03056377962419E-4	0.062
18	678692	T	A	18	678692	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.46226529156369E-4	0.002
18	678692	T	C	18	678692	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.50014361262222E-4	0.002
18	678692	T	G	18	678692	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.15928322694241E-4	0.002
18	678693	C	A	18	678693	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.84662358755601E-4	0.008
18	678693	C	G	18	678693	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.84662358755601E-4	0.01
18	678693	C	T	18	678693	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.84662358755601E-4	0.046
18	678694	A	C	18	678694	y	y	splicing	ENOSF1(NM_001126123:exon12:c.672+2T>G;NM_017512:exon13:c.918+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.672+2T>G;ENST00000319815:exon5:c.228+2T>G;ENST00000251101:exon13:c.918+2T>G;ENST00000581475:exon11:c.920+2T>G;ENST00000580982:exon10:c.690+2T>G;ENST00000585128:exon12:c.738+2T>G;ENST00000584453:exon12:c.845+2T>G)	.	.	0.894912037356298	0.77
18	678694	A	G	18	678694	y	y	splicing	ENOSF1(NM_001126123:exon12:c.672+2T>C;NM_017512:exon13:c.918+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.672+2T>C;ENST00000319815:exon5:c.228+2T>C;ENST00000251101:exon13:c.918+2T>C;ENST00000581475:exon11:c.920+2T>C;ENST00000580982:exon10:c.690+2T>C;ENST00000585128:exon12:c.738+2T>C;ENST00000584453:exon12:c.845+2T>C)	.	.	0.894912037356298	0.77
18	678694	A	T	18	678694	y	y	splicing	ENOSF1(NM_001126123:exon12:c.672+2T>A;NM_017512:exon13:c.918+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.672+2T>A;ENST00000319815:exon5:c.228+2T>A;ENST00000251101:exon13:c.918+2T>A;ENST00000581475:exon11:c.920+2T>A;ENST00000580982:exon10:c.690+2T>A;ENST00000585128:exon12:c.738+2T>A;ENST00000584453:exon12:c.845+2T>A)	.	.	0.894912037356298	0.768
18	678695	C	A	18	678695	y	y	splicing	ENOSF1(NM_001126123:exon12:c.672+1G>T;NM_017512:exon13:c.918+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.672+1G>T;ENST00000319815:exon5:c.228+1G>T;ENST00000251101:exon13:c.918+1G>T;ENST00000581475:exon11:c.920+1G>T;ENST00000580982:exon10:c.690+1G>T;ENST00000585128:exon12:c.738+1G>T;ENST00000584453:exon12:c.845+1G>T)	.	.	0.99322353305357	0.85
18	678695	C	G	18	678695	y	y	splicing	ENOSF1(NM_001126123:exon12:c.672+1G>C;NM_017512:exon13:c.918+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.672+1G>C;ENST00000319815:exon5:c.228+1G>C;ENST00000251101:exon13:c.918+1G>C;ENST00000581475:exon11:c.920+1G>C;ENST00000580982:exon10:c.690+1G>C;ENST00000585128:exon12:c.738+1G>C;ENST00000584453:exon12:c.845+1G>C)	.	.	0.99322353305357	0.852
18	678695	C	T	18	678695	y	y	splicing	ENOSF1(NM_001126123:exon12:c.672+1G>A;NM_017512:exon13:c.918+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.672+1G>A;ENST00000319815:exon5:c.228+1G>A;ENST00000251101:exon13:c.918+1G>A;ENST00000581475:exon11:c.920+1G>A;ENST00000580982:exon10:c.690+1G>A;ENST00000585128:exon12:c.738+1G>A;ENST00000584453:exon12:c.845+1G>A)	.	.	0.995876797705294	0.86
18	678696	C	A	18	678696	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.G918T:p.Q306H;ENOSF1:NM_001126123:exon11:c.G672T:p.Q224H;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.G228T:p.Q76H;ENSG00000132199:ENST00000251101:exon12:c.G918T:p.Q306H;ENSG00000132199:ENST00000383578:exon11:c.G672T:p.Q224H;ENSG00000132199:ENST00000580982:exon9:c.G690T:p.Q230H;	0.00442941089883373	0.068
18	678696	C	G	18	678696	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.G918C:p.Q306H;ENOSF1:NM_001126123:exon11:c.G672C:p.Q224H;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.G228C:p.Q76H;ENSG00000132199:ENST00000251101:exon12:c.G918C:p.Q306H;ENSG00000132199:ENST00000383578:exon11:c.G672C:p.Q224H;ENSG00000132199:ENST00000580982:exon9:c.G690C:p.Q230H;	0.00591435238370123	0.086
18	678696	C	T	18	678696	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon12:c.G918A:p.Q306Q;ENOSF1:NM_001126123:exon11:c.G672A:p.Q224Q;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.G228A:p.Q76Q;ENSG00000132199:ENST00000251101:exon12:c.G918A:p.Q306Q;ENSG00000132199:ENST00000383578:exon11:c.G672A:p.Q224Q;ENSG00000132199:ENST00000580982:exon9:c.G690A:p.Q230Q;	0.101747750884609	0.218
18	678697	T	A	18	678697	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.A917T:p.Q306L;ENOSF1:NM_001126123:exon11:c.A671T:p.Q224L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.A227T:p.Q76L;ENSG00000132199:ENST00000251101:exon12:c.A917T:p.Q306L;ENSG00000132199:ENST00000383578:exon11:c.A671T:p.Q224L;ENSG00000132199:ENST00000580982:exon9:c.A689T:p.Q230L;	0.155682851984984	0.318
18	678697	T	C	18	678697	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.A917G:p.Q306R;ENOSF1:NM_001126123:exon11:c.A671G:p.Q224R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.A227G:p.Q76R;ENSG00000132199:ENST00000251101:exon12:c.A917G:p.Q306R;ENSG00000132199:ENST00000383578:exon11:c.A671G:p.Q224R;ENSG00000132199:ENST00000580982:exon9:c.A689G:p.Q230R;	0.894912037356298	0.782
18	678697	T	G	18	678697	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.A917C:p.Q306P;ENOSF1:NM_001126123:exon11:c.A671C:p.Q224P;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.A227C:p.Q76P;ENSG00000132199:ENST00000251101:exon12:c.A917C:p.Q306P;ENSG00000132199:ENST00000383578:exon11:c.A671C:p.Q224P;ENSG00000132199:ENST00000580982:exon9:c.A689C:p.Q230P;	0.920620463998856	0.81
18	678698	G	A	18	678698	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon12:c.C916T:p.Q306X;ENOSF1:NM_001126123:exon11:c.C670T:p.Q224X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000319815:exon4:c.C226T:p.Q76X;ENSG00000132199:ENST00000251101:exon12:c.C916T:p.Q306X;ENSG00000132199:ENST00000383578:exon11:c.C670T:p.Q224X;ENSG00000132199:ENST00000580982:exon9:c.C688T:p.Q230X;	0.995618830681449	0.954
18	678698	G	C	18	678698	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.C916G:p.Q306E;ENOSF1:NM_001126123:exon11:c.C670G:p.Q224E;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.C226G:p.Q76E;ENSG00000132199:ENST00000251101:exon12:c.C916G:p.Q306E;ENSG00000132199:ENST00000383578:exon11:c.C670G:p.Q224E;ENSG00000132199:ENST00000580982:exon9:c.C688G:p.Q230E;	0.993733916693694	0.868
18	678698	G	T	18	678698	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.C916A:p.Q306K;ENOSF1:NM_001126123:exon11:c.C670A:p.Q224K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.C226A:p.Q76K;ENSG00000132199:ENST00000251101:exon12:c.C916A:p.Q306K;ENSG00000132199:ENST00000383578:exon11:c.C670A:p.Q224K;ENSG00000132199:ENST00000580982:exon9:c.C688A:p.Q230K;	0.993733916693694	0.862
18	678736	G	A	18	678736	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.C878T:p.A293V;ENOSF1:NM_001126123:exon11:c.C632T:p.A211V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.C188T:p.A63V;ENSG00000132199:ENST00000251101:exon12:c.C878T:p.A293V;ENSG00000132199:ENST00000383578:exon11:c.C632T:p.A211V;ENSG00000132199:ENST00000580982:exon9:c.C650T:p.A217V;	0.995876797705294	0.862
18	678736	G	C	18	678736	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.C878G:p.A293G;ENOSF1:NM_001126123:exon11:c.C632G:p.A211G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.C188G:p.A63G;ENSG00000132199:ENST00000251101:exon12:c.C878G:p.A293G;ENSG00000132199:ENST00000383578:exon11:c.C632G:p.A211G;ENSG00000132199:ENST00000580982:exon9:c.C650G:p.A217G;	0.0243156145864903	0.058
18	678736	G	T	18	678736	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.C878A:p.A293E;ENOSF1:NM_001126123:exon11:c.C632A:p.A211E;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.C188A:p.A63E;ENSG00000132199:ENST00000251101:exon12:c.C878A:p.A293E;ENSG00000132199:ENST00000383578:exon11:c.C632A:p.A211E;ENSG00000132199:ENST00000580982:exon9:c.C650A:p.A217E;	0.0861748975146968	0.14
18	678737	C	A	18	678737	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.G877T:p.A293S;ENOSF1:NM_001126123:exon11:c.G631T:p.A211S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.G187T:p.A63S;ENSG00000132199:ENST00000251101:exon12:c.G877T:p.A293S;ENSG00000132199:ENST00000383578:exon11:c.G631T:p.A211S;ENSG00000132199:ENST00000580982:exon9:c.G649T:p.A217S;	0.00406579574933411	0.04
18	678737	C	G	18	678737	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.G877C:p.A293P;ENOSF1:NM_001126123:exon11:c.G631C:p.A211P;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.G187C:p.A63P;ENSG00000132199:ENST00000251101:exon12:c.G877C:p.A293P;ENSG00000132199:ENST00000383578:exon11:c.G631C:p.A211P;ENSG00000132199:ENST00000580982:exon9:c.G649C:p.A217P;	0.298638806550542	0.458
18	678737	C	T	18	678737	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon12:c.G877A:p.A293T;ENOSF1:NM_001126123:exon11:c.G631A:p.A211T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon4:c.G187A:p.A63T;ENSG00000132199:ENST00000251101:exon12:c.G877A:p.A293T;ENSG00000132199:ENST00000383578:exon11:c.G631A:p.A211T;ENSG00000132199:ENST00000580982:exon9:c.G649A:p.A217T;	0.298638806550542	0.466
18	678738	C	A	18	678738	y	y	splicing	ENOSF1(NM_001126123:exon12:c.631-1G>T;NM_017512:exon13:c.877-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.631-1G>T;ENST00000319815:exon5:c.187-1G>T;ENST00000251101:exon13:c.877-1G>T;ENST00000581475:exon11:c.879-1G>T;ENST00000580982:exon10:c.649-1G>T;ENST00000585128:exon12:c.697-1G>T;ENST00000584453:exon12:c.804-1G>T)	.	.	0.0243156145864903	0.046
18	678738	C	G	18	678738	y	y	splicing	ENOSF1(NM_001126123:exon12:c.631-1G>C;NM_017512:exon13:c.877-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.631-1G>C;ENST00000319815:exon5:c.187-1G>C;ENST00000251101:exon13:c.877-1G>C;ENST00000581475:exon11:c.879-1G>C;ENST00000580982:exon10:c.649-1G>C;ENST00000585128:exon12:c.697-1G>C;ENST00000584453:exon12:c.804-1G>C)	.	.	0.0218013593461534	0.048
18	678738	C	T	18	678738	y	y	splicing	ENOSF1(NM_001126123:exon12:c.631-1G>A;NM_017512:exon13:c.877-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.631-1G>A;ENST00000319815:exon5:c.187-1G>A;ENST00000251101:exon13:c.877-1G>A;ENST00000581475:exon11:c.879-1G>A;ENST00000580982:exon10:c.649-1G>A;ENST00000585128:exon12:c.697-1G>A;ENST00000584453:exon12:c.804-1G>A)	.	.	0.0243156145864903	0.054
18	678739	T	A	18	678739	y	y	splicing	ENOSF1(NM_001126123:exon12:c.631-2A>T;NM_017512:exon13:c.877-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.631-2A>T;ENST00000319815:exon5:c.187-2A>T;ENST00000251101:exon13:c.877-2A>T;ENST00000581475:exon11:c.879-2A>T;ENST00000580982:exon10:c.649-2A>T;ENST00000585128:exon12:c.697-2A>T;ENST00000584453:exon12:c.804-2A>T)	.	.	0.00437100848571084	0.016
18	678739	T	C	18	678739	y	y	splicing	ENOSF1(NM_001126123:exon12:c.631-2A>G;NM_017512:exon13:c.877-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.631-2A>G;ENST00000319815:exon5:c.187-2A>G;ENST00000251101:exon13:c.877-2A>G;ENST00000581475:exon11:c.879-2A>G;ENST00000580982:exon10:c.649-2A>G;ENST00000585128:exon12:c.697-2A>G;ENST00000584453:exon12:c.804-2A>G)	.	.	0.00437100848571084	0.01
18	678739	T	G	18	678739	y	y	splicing	ENOSF1(NM_001126123:exon12:c.631-2A>C;NM_017512:exon13:c.877-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon12:c.631-2A>C;ENST00000319815:exon5:c.187-2A>C;ENST00000251101:exon13:c.877-2A>C;ENST00000581475:exon11:c.879-2A>C;ENST00000580982:exon10:c.649-2A>C;ENST00000585128:exon12:c.697-2A>C;ENST00000584453:exon12:c.804-2A>C)	.	.	0.00437100848571084	0.01
18	678740	A	C	18	678740	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.03359245426808E-5	0.008
18	678740	A	G	18	678740	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.03359245426808E-5	0.008
18	678740	A	T	18	678740	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.03359245426808E-5	0.006
18	678741	T	A	18	678741	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.7763139943859E-5	0.0
18	678741	T	C	18	678741	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.73961589007702E-5	0.0
18	678741	T	G	18	678741	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.73961589007702E-5	0.0
18	678742	A	C	18	678742	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.29172098833992E-5	0.0
18	678742	A	G	18	678742	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.29172098833992E-5	0.0
18	678742	A	T	18	678742	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.29172098833992E-5	0.0
18	678743	A	C	18	678743	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.74359842730815E-4	0.002
18	678743	A	G	18	678743	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.74359842730815E-4	0.002
18	678743	A	T	18	678743	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.74359842730815E-4	0.002
18	678744	A	C	18	678744	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.61811153049764E-5	0.004
18	678744	A	G	18	678744	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.61811153049764E-5	0.004
18	678744	A	T	18	678744	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.21441922682638E-5	0.006
18	678745	A	C	18	678745	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.31524023438878E-4	0.016
18	678745	A	G	18	678745	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.31524023438878E-4	0.014
18	678745	A	T	18	678745	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.31524023438878E-4	0.014
18	678746	T	A	18	678746	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.17833868802641E-5	0.0
18	678746	T	C	18	678746	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.17833868802641E-5	0.0
18	678746	T	G	18	678746	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.17833868802641E-5	0.0
18	678747	A	C	18	678747	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.40063699135737E-5	0.0
18	678747	A	G	18	678747	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.40063699135737E-5	0.0
18	678747	A	T	18	678747	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.40063699135737E-5	0.0
18	678748	G	A	18	678748	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.39502748842236E-5	0.016
18	678748	G	C	18	678748	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.39502748842236E-5	0.008
18	678748	G	T	18	678748	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.39502748842236E-5	0.008
18	678749	A	C	18	678749	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.40063699135737E-5	0.0
18	678749	A	G	18	678749	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.40063699135737E-5	0.0
18	678749	A	T	18	678749	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.40063699135737E-5	0.0
18	683238	T	A	18	683238	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.85830734503405E-4	0.002
18	683238	T	C	18	683238	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.66901453745597E-5	0.0
18	683238	T	G	18	683238	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.06380969118972E-4	0.002
18	683239	T	A	18	683239	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.07902708129146E-4	0.0
18	683239	T	C	18	683239	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.60676020071976E-5	0.0
18	683239	T	G	18	683239	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.32079236810993E-4	0.002
18	683240	T	A	18	683240	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.83490306740609E-5	0.012
18	683240	T	C	18	683240	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.41190846679779E-5	0.004
18	683240	T	G	18	683240	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.02814612423838E-4	0.04
18	683241	C	A	18	683241	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.747823590545405	0.426
18	683241	C	G	18	683241	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.591352313027712	0.416
18	683241	C	T	18	683241	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.292525861983734	0.346
18	683242	C	A	18	683242	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.63849182254021E-4	0.024
18	683242	C	G	18	683242	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.29443549349296E-4	0.026
18	683242	C	T	18	683242	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.82794017119152E-4	0.08
18	683243	T	A	18	683243	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.786776547143046	0.648
18	683243	T	C	18	683243	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0320183345520797	0.318
18	683243	T	G	18	683243	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.818393302795614	0.622
18	683244	A	C	18	683244	y	y	splicing	ENOSF1(NM_001126123:exon11:c.630+2T>G;NM_017512:exon12:c.876+2T>G;NM_202758:exon12:c.939+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.630+2T>G;ENST00000319815:exon4:c.186+2T>G;ENST00000251101:exon12:c.876+2T>G;ENST00000581475:exon10:c.878+2T>G;ENST00000340116:exon12:c.939+2T>G;ENST00000580982:exon9:c.648+2T>G;ENST00000585128:exon11:c.696+2T>G;ENST00000584453:exon11:c.803+2T>G)	.	.	0.999971317418422	0.892
18	683244	A	G	18	683244	y	y	splicing	ENOSF1(NM_001126123:exon11:c.630+2T>C;NM_017512:exon12:c.876+2T>C;NM_202758:exon12:c.939+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.630+2T>C;ENST00000319815:exon4:c.186+2T>C;ENST00000251101:exon12:c.876+2T>C;ENST00000581475:exon10:c.878+2T>C;ENST00000340116:exon12:c.939+2T>C;ENST00000580982:exon9:c.648+2T>C;ENST00000585128:exon11:c.696+2T>C;ENST00000584453:exon11:c.803+2T>C)	.	.	0.967788928859094	0.606
18	683244	A	T	18	683244	y	y	splicing	ENOSF1(NM_001126123:exon11:c.630+2T>A;NM_017512:exon12:c.876+2T>A;NM_202758:exon12:c.939+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.630+2T>A;ENST00000319815:exon4:c.186+2T>A;ENST00000251101:exon12:c.876+2T>A;ENST00000581475:exon10:c.878+2T>A;ENST00000340116:exon12:c.939+2T>A;ENST00000580982:exon9:c.648+2T>A;ENST00000585128:exon11:c.696+2T>A;ENST00000584453:exon11:c.803+2T>A)	.	.	0.999971317418422	0.894
18	683245	C	A	18	683245	y	y	splicing	ENOSF1(NM_001126123:exon11:c.630+1G>T;NM_017512:exon12:c.876+1G>T;NM_202758:exon12:c.939+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.630+1G>T;ENST00000319815:exon4:c.186+1G>T;ENST00000251101:exon12:c.876+1G>T;ENST00000581475:exon10:c.878+1G>T;ENST00000340116:exon12:c.939+1G>T;ENST00000580982:exon9:c.648+1G>T;ENST00000585128:exon11:c.696+1G>T;ENST00000584453:exon11:c.803+1G>T)	.	.	0.999971209564868	0.938
18	683245	C	G	18	683245	y	y	splicing	ENOSF1(NM_001126123:exon11:c.630+1G>C;NM_017512:exon12:c.876+1G>C;NM_202758:exon12:c.939+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.630+1G>C;ENST00000319815:exon4:c.186+1G>C;ENST00000251101:exon12:c.876+1G>C;ENST00000581475:exon10:c.878+1G>C;ENST00000340116:exon12:c.939+1G>C;ENST00000580982:exon9:c.648+1G>C;ENST00000585128:exon11:c.696+1G>C;ENST00000584453:exon11:c.803+1G>C)	.	.	0.999971209564868	0.938
18	683245	C	T	18	683245	y	y	splicing	ENOSF1(NM_001126123:exon11:c.630+1G>A;NM_017512:exon12:c.876+1G>A;NM_202758:exon12:c.939+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.630+1G>A;ENST00000319815:exon4:c.186+1G>A;ENST00000251101:exon12:c.876+1G>A;ENST00000581475:exon10:c.878+1G>A;ENST00000340116:exon12:c.939+1G>A;ENST00000580982:exon9:c.648+1G>A;ENST00000585128:exon11:c.696+1G>A;ENST00000584453:exon11:c.803+1G>A)	.	.	0.99995586615188	0.94
18	683246	C	A	18	683246	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.G876T:p.K292N;ENOSF1:NM_001126123:exon10:c.G630T:p.K210N;ENOSF1:NM_202758:exon11:c.G939T:p.K313N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.G186T:p.K62N;ENSG00000132199:ENST00000251101:exon11:c.G876T:p.K292N;ENSG00000132199:ENST00000383578:exon10:c.G630T:p.K210N;ENSG00000132199:ENST00000580982:exon8:c.G648T:p.K216N;ENSG00000132199:ENST00000340116:exon11:c.G939T:p.K313N;	0.999955241305049	1.0
18	683246	C	G	18	683246	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.G876C:p.K292N;ENOSF1:NM_001126123:exon10:c.G630C:p.K210N;ENOSF1:NM_202758:exon11:c.G939C:p.K313N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.G186C:p.K62N;ENSG00000132199:ENST00000251101:exon11:c.G876C:p.K292N;ENSG00000132199:ENST00000383578:exon10:c.G630C:p.K210N;ENSG00000132199:ENST00000580982:exon8:c.G648C:p.K216N;ENSG00000132199:ENST00000340116:exon11:c.G939C:p.K313N;	0.999984609178078	0.996
18	683246	C	T	18	683246	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon11:c.G876A:p.K292K;ENOSF1:NM_001126123:exon10:c.G630A:p.K210K;ENOSF1:NM_202758:exon11:c.G939A:p.K313K;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.G186A:p.K62K;ENSG00000132199:ENST00000251101:exon11:c.G876A:p.K292K;ENSG00000132199:ENST00000383578:exon10:c.G630A:p.K210K;ENSG00000132199:ENST00000580982:exon8:c.G648A:p.K216K;ENSG00000132199:ENST00000340116:exon11:c.G939A:p.K313K;	0.999723657996324	0.954
18	683247	T	A	18	683247	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.A875T:p.K292M;ENOSF1:NM_001126123:exon10:c.A629T:p.K210M;ENOSF1:NM_202758:exon11:c.A938T:p.K313M;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.A185T:p.K62M;ENSG00000132199:ENST00000251101:exon11:c.A875T:p.K292M;ENSG00000132199:ENST00000383578:exon10:c.A629T:p.K210M;ENSG00000132199:ENST00000580982:exon8:c.A647T:p.K216M;ENSG00000132199:ENST00000340116:exon11:c.A938T:p.K313M;	0.998583455698276	0.914
18	683247	T	C	18	683247	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.A875G:p.K292R;ENOSF1:NM_001126123:exon10:c.A629G:p.K210R;ENOSF1:NM_202758:exon11:c.A938G:p.K313R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.A185G:p.K62R;ENSG00000132199:ENST00000251101:exon11:c.A875G:p.K292R;ENSG00000132199:ENST00000383578:exon10:c.A629G:p.K210R;ENSG00000132199:ENST00000580982:exon8:c.A647G:p.K216R;ENSG00000132199:ENST00000340116:exon11:c.A938G:p.K313R;	0.739734620129375	0.504
18	683247	T	G	18	683247	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.A875C:p.K292T;ENOSF1:NM_001126123:exon10:c.A629C:p.K210T;ENOSF1:NM_202758:exon11:c.A938C:p.K313T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.A185C:p.K62T;ENSG00000132199:ENST00000251101:exon11:c.A875C:p.K292T;ENSG00000132199:ENST00000383578:exon10:c.A629C:p.K210T;ENSG00000132199:ENST00000580982:exon8:c.A647C:p.K216T;ENSG00000132199:ENST00000340116:exon11:c.A938C:p.K313T;	0.827604170995363	0.77
18	683248	T	A	18	683248	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon11:c.A874T:p.K292X;ENOSF1:NM_001126123:exon10:c.A628T:p.K210X;ENOSF1:NM_202758:exon11:c.A937T:p.K313X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000319815:exon3:c.A184T:p.K62X;ENSG00000132199:ENST00000251101:exon11:c.A874T:p.K292X;ENSG00000132199:ENST00000383578:exon10:c.A628T:p.K210X;ENSG00000132199:ENST00000580982:exon8:c.A646T:p.K216X;ENSG00000132199:ENST00000340116:exon11:c.A937T:p.K313X;	0.607576864736956	0.61
18	683248	T	C	18	683248	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.A874G:p.K292E;ENOSF1:NM_001126123:exon10:c.A628G:p.K210E;ENOSF1:NM_202758:exon11:c.A937G:p.K313E;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.A184G:p.K62E;ENSG00000132199:ENST00000251101:exon11:c.A874G:p.K292E;ENSG00000132199:ENST00000383578:exon10:c.A628G:p.K210E;ENSG00000132199:ENST00000580982:exon8:c.A646G:p.K216E;ENSG00000132199:ENST00000340116:exon11:c.A937G:p.K313E;	1.84832250279689E-4	0.004
18	683248	T	G	18	683248	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.A874C:p.K292Q;ENOSF1:NM_001126123:exon10:c.A628C:p.K210Q;ENOSF1:NM_202758:exon11:c.A937C:p.K313Q;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.A184C:p.K62Q;ENSG00000132199:ENST00000251101:exon11:c.A874C:p.K292Q;ENSG00000132199:ENST00000383578:exon10:c.A628C:p.K210Q;ENSG00000132199:ENST00000580982:exon8:c.A646C:p.K216Q;ENSG00000132199:ENST00000340116:exon11:c.A937C:p.K313Q;	3.28463393917588E-4	0.002
18	683379	A	C	18	683379	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.T743G:p.M248R;ENOSF1:NM_001126123:exon10:c.T497G:p.M166R;ENOSF1:NM_202758:exon11:c.T806G:p.M269R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.T53G:p.M18R;ENSG00000132199:ENST00000251101:exon11:c.T743G:p.M248R;ENSG00000132199:ENST00000383578:exon10:c.T497G:p.M166R;ENSG00000132199:ENST00000580982:exon8:c.T515G:p.M172R;ENSG00000132199:ENST00000340116:exon11:c.T806G:p.M269R;	0.603409947666486	0.518
18	683379	A	G	18	683379	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.T743C:p.M248T;ENOSF1:NM_001126123:exon10:c.T497C:p.M166T;ENOSF1:NM_202758:exon11:c.T806C:p.M269T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.T53C:p.M18T;ENSG00000132199:ENST00000251101:exon11:c.T743C:p.M248T;ENSG00000132199:ENST00000383578:exon10:c.T497C:p.M166T;ENSG00000132199:ENST00000580982:exon8:c.T515C:p.M172T;ENSG00000132199:ENST00000340116:exon11:c.T806C:p.M269T;	0.276419810246439	0.524
18	683379	A	T	18	683379	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.T743A:p.M248K;ENOSF1:NM_001126123:exon10:c.T497A:p.M166K;ENOSF1:NM_202758:exon11:c.T806A:p.M269K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.T53A:p.M18K;ENSG00000132199:ENST00000251101:exon11:c.T743A:p.M248K;ENSG00000132199:ENST00000383578:exon10:c.T497A:p.M166K;ENSG00000132199:ENST00000580982:exon8:c.T515A:p.M172K;ENSG00000132199:ENST00000340116:exon11:c.T806A:p.M269K;	0.672492893227754	0.508
18	683380	T	A	18	683380	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.A742T:p.M248L;ENOSF1:NM_001126123:exon10:c.A496T:p.M166L;ENOSF1:NM_202758:exon11:c.A805T:p.M269L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.A52T:p.M18L;ENSG00000132199:ENST00000251101:exon11:c.A742T:p.M248L;ENSG00000132199:ENST00000383578:exon10:c.A496T:p.M166L;ENSG00000132199:ENST00000580982:exon8:c.A514T:p.M172L;ENSG00000132199:ENST00000340116:exon11:c.A805T:p.M269L;	0.371366627735056	0.518
18	683380	T	C	18	683380	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.A742G:p.M248V;ENOSF1:NM_001126123:exon10:c.A496G:p.M166V;ENOSF1:NM_202758:exon11:c.A805G:p.M269V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.A52G:p.M18V;ENSG00000132199:ENST00000251101:exon11:c.A742G:p.M248V;ENSG00000132199:ENST00000383578:exon10:c.A496G:p.M166V;ENSG00000132199:ENST00000580982:exon8:c.A514G:p.M172V;ENSG00000132199:ENST00000340116:exon11:c.A805G:p.M269V;	0.561802354100878	0.69
18	683380	T	G	18	683380	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon11:c.A742C:p.M248L;ENOSF1:NM_001126123:exon10:c.A496C:p.M166L;ENOSF1:NM_202758:exon11:c.A805C:p.M269L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon3:c.A52C:p.M18L;ENSG00000132199:ENST00000251101:exon11:c.A742C:p.M248L;ENSG00000132199:ENST00000383578:exon10:c.A496C:p.M166L;ENSG00000132199:ENST00000580982:exon8:c.A514C:p.M172L;ENSG00000132199:ENST00000340116:exon11:c.A805C:p.M269L;	0.681070820816736	0.594
18	683381	C	A	18	683381	y	y	splicing	ENOSF1(NM_001126123:exon11:c.496-1G>T;NM_017512:exon12:c.742-1G>T;NM_202758:exon12:c.805-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.496-1G>T;ENST00000319815:exon4:c.52-1G>T;ENST00000251101:exon12:c.742-1G>T;ENST00000581475:exon10:c.744-1G>T;ENST00000340116:exon12:c.805-1G>T;ENST00000580982:exon9:c.514-1G>T;ENST00000585128:exon11:c.562-1G>T;ENST00000584453:exon11:c.669-1G>T)	.	.	0.999986675681007	0.93
18	683381	C	G	18	683381	y	y	splicing	ENOSF1(NM_001126123:exon11:c.496-1G>C;NM_017512:exon12:c.742-1G>C;NM_202758:exon12:c.805-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.496-1G>C;ENST00000319815:exon4:c.52-1G>C;ENST00000251101:exon12:c.742-1G>C;ENST00000581475:exon10:c.744-1G>C;ENST00000340116:exon12:c.805-1G>C;ENST00000580982:exon9:c.514-1G>C;ENST00000585128:exon11:c.562-1G>C;ENST00000584453:exon11:c.669-1G>C)	.	.	0.999986675681007	0.93
18	683381	C	T	18	683381	y	y	splicing	ENOSF1(NM_001126123:exon11:c.496-1G>A;NM_017512:exon12:c.742-1G>A;NM_202758:exon12:c.805-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.496-1G>A;ENST00000319815:exon4:c.52-1G>A;ENST00000251101:exon12:c.742-1G>A;ENST00000581475:exon10:c.744-1G>A;ENST00000340116:exon12:c.805-1G>A;ENST00000580982:exon9:c.514-1G>A;ENST00000585128:exon11:c.562-1G>A;ENST00000584453:exon11:c.669-1G>A)	.	.	0.999986675681007	0.93
18	683382	T	A	18	683382	y	y	splicing	ENOSF1(NM_001126123:exon11:c.496-2A>T;NM_017512:exon12:c.742-2A>T;NM_202758:exon12:c.805-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.496-2A>T;ENST00000319815:exon4:c.52-2A>T;ENST00000251101:exon12:c.742-2A>T;ENST00000581475:exon10:c.744-2A>T;ENST00000340116:exon12:c.805-2A>T;ENST00000580982:exon9:c.514-2A>T;ENST00000585128:exon11:c.562-2A>T;ENST00000584453:exon11:c.669-2A>T)	.	.	0.999988247793601	0.924
18	683382	T	C	18	683382	y	y	splicing	ENOSF1(NM_001126123:exon11:c.496-2A>G;NM_017512:exon12:c.742-2A>G;NM_202758:exon12:c.805-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.496-2A>G;ENST00000319815:exon4:c.52-2A>G;ENST00000251101:exon12:c.742-2A>G;ENST00000581475:exon10:c.744-2A>G;ENST00000340116:exon12:c.805-2A>G;ENST00000580982:exon9:c.514-2A>G;ENST00000585128:exon11:c.562-2A>G;ENST00000584453:exon11:c.669-2A>G)	.	.	0.999988247793601	0.926
18	683382	T	G	18	683382	y	y	splicing	ENOSF1(NM_001126123:exon11:c.496-2A>C;NM_017512:exon12:c.742-2A>C;NM_202758:exon12:c.805-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon11:c.496-2A>C;ENST00000319815:exon4:c.52-2A>C;ENST00000251101:exon12:c.742-2A>C;ENST00000581475:exon10:c.744-2A>C;ENST00000340116:exon12:c.805-2A>C;ENST00000580982:exon9:c.514-2A>C;ENST00000585128:exon11:c.562-2A>C;ENST00000584453:exon11:c.669-2A>C)	.	.	0.999988247793601	0.926
18	683383	G	A	18	683383	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0744619094885558	0.37
18	683383	G	C	18	683383	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999870872093381	0.968
18	683383	G	T	18	683383	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.989520565649316	0.796
18	683384	C	A	18	683384	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.72803739647889E-4	0.018
18	683384	C	G	18	683384	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.57042258946094E-5	0.006
18	683384	C	T	18	683384	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.8462871798818E-4	0.02
18	683385	A	C	18	683385	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0486572558212717	0.266
18	683385	A	G	18	683385	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.64276921672744E-4	0.008
18	683385	A	T	18	683385	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999769217351367	0.972
18	683386	A	C	18	683386	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00358607085821245	0.098
18	683386	A	G	18	683386	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.24065321362901E-4	0.0
18	683386	A	T	18	683386	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0118322946865823	0.124
18	683387	A	C	18	683387	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00120258737826333	0.024
18	683387	A	G	18	683387	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.54291384163911E-4	0.008
18	683387	A	T	18	683387	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00569530464491003	0.122
18	683388	A	C	18	683388	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.57437199608635E-4	0.064
18	683388	A	G	18	683388	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.58227243393406E-5	0.0
18	683388	A	T	18	683388	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00157191468759442	0.04
18	683389	A	C	18	683389	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00311225769078398	0.084
18	683389	A	G	18	683389	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.52737289468699E-4	0.108
18	683389	A	T	18	683389	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00557193624113419	0.104
18	683390	G	A	18	683390	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.76817661350437E-5	0.0
18	683390	G	C	18	683390	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00634533486157136	0.078
18	683390	G	T	18	683390	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00504455133591772	0.062
18	683391	A	C	18	683391	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0478390624551964	0.402
18	683391	A	G	18	683391	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00723418088890433	0.15
18	683391	A	T	18	683391	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.166029765170322	0.418
18	683392	G	A	18	683392	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.22342559198545E-4	0.014
18	683392	G	C	18	683392	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.06459526061076E-4	0.038
18	683392	G	T	18	683392	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00280917027159992	0.078
18	685913	A	C	18	685913	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.57760141882723E-5	0.022
18	685913	A	G	18	685913	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.69973051072945E-6	0.002
18	685913	A	T	18	685913	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.27720647381089E-5	0.002
18	685914	T	A	18	685914	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.24193632666499E-4	0.084
18	685914	T	C	18	685914	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.38622844148311E-4	0.046
18	685914	T	G	18	685914	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.36551044439737E-4	0.0
18	685915	A	C	18	685915	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00314993152970111	0.268
18	685915	A	G	18	685915	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.520535477434182	0.572
18	685915	A	T	18	685915	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.304425734512949	0.416
18	685916	T	A	18	685916	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.67498944605333E-5	0.004
18	685916	T	C	18	685916	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.11011355828432E-5	0.076
18	685916	T	G	18	685916	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.37843640745068E-4	0.016
18	685917	T	A	18	685917	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.97236008463621	0.846
18	685917	T	C	18	685917	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.996325802526397	0.882
18	685917	T	G	18	685917	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.984050680572673	0.828
18	685918	T	A	18	685918	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999483669383538	0.928
18	685918	T	C	18	685918	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999081297664254	0.784
18	685918	T	G	18	685918	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999483669383538	0.876
18	685919	A	C	18	685919	y	y	splicing	ENOSF1(NM_001126123:exon10:c.495+2T>G;NM_017512:exon11:c.741+2T>G;NM_202758:exon11:c.804+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.495+2T>G;ENST00000319815:exon3:c.51+2T>G;ENST00000251101:exon11:c.741+2T>G;ENST00000581475:exon9:c.743+2T>G;ENST00000340116:exon11:c.804+2T>G;ENST00000580982:exon8:c.513+2T>G;ENST00000585128:exon10:c.561+2T>G;ENST00000584453:exon10:c.668+2T>G)	.	.	0.999871793741964	0.8
18	685919	A	G	18	685919	y	y	splicing	ENOSF1(NM_001126123:exon10:c.495+2T>C;NM_017512:exon11:c.741+2T>C;NM_202758:exon11:c.804+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.495+2T>C;ENST00000319815:exon3:c.51+2T>C;ENST00000251101:exon11:c.741+2T>C;ENST00000581475:exon9:c.743+2T>C;ENST00000340116:exon11:c.804+2T>C;ENST00000580982:exon8:c.513+2T>C;ENST00000585128:exon10:c.561+2T>C;ENST00000584453:exon10:c.668+2T>C)	.	.	0.990452970271019	0.652
18	685919	A	T	18	685919	y	y	splicing	ENOSF1(NM_001126123:exon10:c.495+2T>A;NM_017512:exon11:c.741+2T>A;NM_202758:exon11:c.804+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.495+2T>A;ENST00000319815:exon3:c.51+2T>A;ENST00000251101:exon11:c.741+2T>A;ENST00000581475:exon9:c.743+2T>A;ENST00000340116:exon11:c.804+2T>A;ENST00000580982:exon8:c.513+2T>A;ENST00000585128:exon10:c.561+2T>A;ENST00000584453:exon10:c.668+2T>A)	.	.	0.999871793741964	0.81
18	685920	C	A	18	685920	y	y	splicing	ENOSF1(NM_001126123:exon10:c.495+1G>T;NM_017512:exon11:c.741+1G>T;NM_202758:exon11:c.804+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.495+1G>T;ENST00000319815:exon3:c.51+1G>T;ENST00000251101:exon11:c.741+1G>T;ENST00000581475:exon9:c.743+1G>T;ENST00000340116:exon11:c.804+1G>T;ENST00000580982:exon8:c.513+1G>T;ENST00000585128:exon10:c.561+1G>T;ENST00000584453:exon10:c.668+1G>T)	.	.	0.999964979301431	0.846
18	685920	C	G	18	685920	y	y	splicing	ENOSF1(NM_001126123:exon10:c.495+1G>C;NM_017512:exon11:c.741+1G>C;NM_202758:exon11:c.804+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.495+1G>C;ENST00000319815:exon3:c.51+1G>C;ENST00000251101:exon11:c.741+1G>C;ENST00000581475:exon9:c.743+1G>C;ENST00000340116:exon11:c.804+1G>C;ENST00000580982:exon8:c.513+1G>C;ENST00000585128:exon10:c.561+1G>C;ENST00000584453:exon10:c.668+1G>C)	.	.	0.999964979301431	0.806
18	685920	C	T	18	685920	y	y	splicing	ENOSF1(NM_001126123:exon10:c.495+1G>A;NM_017512:exon11:c.741+1G>A;NM_202758:exon11:c.804+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.495+1G>A;ENST00000319815:exon3:c.51+1G>A;ENST00000251101:exon11:c.741+1G>A;ENST00000581475:exon9:c.743+1G>A;ENST00000340116:exon11:c.804+1G>A;ENST00000580982:exon8:c.513+1G>A;ENST00000585128:exon10:c.561+1G>A;ENST00000584453:exon10:c.668+1G>A)	.	.	0.999970933082152	0.852
18	685921	C	A	18	685921	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.G741T:p.L247F;ENOSF1:NM_001126123:exon9:c.G495T:p.L165F;ENOSF1:NM_202758:exon10:c.G804T:p.L268F;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon2:c.G51T:p.L17F;ENSG00000132199:ENST00000251101:exon10:c.G741T:p.L247F;ENSG00000132199:ENST00000383578:exon9:c.G495T:p.L165F;ENSG00000132199:ENST00000580982:exon7:c.G513T:p.L171F;ENSG00000132199:ENST00000340116:exon10:c.G804T:p.L268F;	0.999990846406755	0.998
18	685921	C	G	18	685921	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.G741C:p.L247F;ENOSF1:NM_001126123:exon9:c.G495C:p.L165F;ENOSF1:NM_202758:exon10:c.G804C:p.L268F;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon2:c.G51C:p.L17F;ENSG00000132199:ENST00000251101:exon10:c.G741C:p.L247F;ENSG00000132199:ENST00000383578:exon9:c.G495C:p.L165F;ENSG00000132199:ENST00000580982:exon7:c.G513C:p.L171F;ENSG00000132199:ENST00000340116:exon10:c.G804C:p.L268F;	0.999996289087803	1.0
18	685921	C	T	18	685921	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon10:c.G741A:p.L247L;ENOSF1:NM_001126123:exon9:c.G495A:p.L165L;ENOSF1:NM_202758:exon10:c.G804A:p.L268L;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon2:c.G51A:p.L17L;ENSG00000132199:ENST00000251101:exon10:c.G741A:p.L247L;ENSG00000132199:ENST00000383578:exon9:c.G495A:p.L165L;ENSG00000132199:ENST00000580982:exon7:c.G513A:p.L171L;ENSG00000132199:ENST00000340116:exon10:c.G804A:p.L268L;	0.999989031054912	0.988
18	685922	A	C	18	685922	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.T740G:p.L247W;ENOSF1:NM_001126123:exon9:c.T494G:p.L165W;ENOSF1:NM_202758:exon10:c.T803G:p.L268W;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon2:c.T50G:p.L17W;ENSG00000132199:ENST00000251101:exon10:c.T740G:p.L247W;ENSG00000132199:ENST00000383578:exon9:c.T494G:p.L165W;ENSG00000132199:ENST00000580982:exon7:c.T512G:p.L171W;ENSG00000132199:ENST00000340116:exon10:c.T803G:p.L268W;	0.904909209734868	0.748
18	685922	A	G	18	685922	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.T740C:p.L247S;ENOSF1:NM_001126123:exon9:c.T494C:p.L165S;ENOSF1:NM_202758:exon10:c.T803C:p.L268S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon2:c.T50C:p.L17S;ENSG00000132199:ENST00000251101:exon10:c.T740C:p.L247S;ENSG00000132199:ENST00000383578:exon9:c.T494C:p.L165S;ENSG00000132199:ENST00000580982:exon7:c.T512C:p.L171S;ENSG00000132199:ENST00000340116:exon10:c.T803C:p.L268S;	0.938785494940347	0.79
18	685922	A	T	18	685922	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon10:c.T740A:p.L247X;ENOSF1:NM_001126123:exon9:c.T494A:p.L165X;ENOSF1:NM_202758:exon10:c.T803A:p.L268X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000319815:exon2:c.T50A:p.L17X;ENSG00000132199:ENST00000251101:exon10:c.T740A:p.L247X;ENSG00000132199:ENST00000383578:exon9:c.T494A:p.L165X;ENSG00000132199:ENST00000580982:exon7:c.T512A:p.L171X;ENSG00000132199:ENST00000340116:exon10:c.T803A:p.L268X;	0.677289787812658	0.642
18	685923	A	C	18	685923	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.T739G:p.L247V;ENOSF1:NM_001126123:exon9:c.T493G:p.L165V;ENOSF1:NM_202758:exon10:c.T802G:p.L268V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon2:c.T49G:p.L17V;ENSG00000132199:ENST00000251101:exon10:c.T739G:p.L247V;ENSG00000132199:ENST00000383578:exon9:c.T493G:p.L165V;ENSG00000132199:ENST00000580982:exon7:c.T511G:p.L171V;ENSG00000132199:ENST00000340116:exon10:c.T802G:p.L268V;	2.56174622881517E-5	0.008
18	685923	A	G	18	685923	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon10:c.T739C:p.L247L;ENOSF1:NM_001126123:exon9:c.T493C:p.L165L;ENOSF1:NM_202758:exon10:c.T802C:p.L268L;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000319815:exon2:c.T49C:p.L17L;ENSG00000132199:ENST00000251101:exon10:c.T739C:p.L247L;ENSG00000132199:ENST00000383578:exon9:c.T493C:p.L165L;ENSG00000132199:ENST00000580982:exon7:c.T511C:p.L171L;ENSG00000132199:ENST00000340116:exon10:c.T802C:p.L268L;	3.51976625181902E-5	0.002
18	685923	A	T	18	685923	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.T739A:p.L247M;ENOSF1:NM_001126123:exon9:c.T493A:p.L165M;ENOSF1:NM_202758:exon10:c.T802A:p.L268M;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000319815:exon2:c.T49A:p.L17M;ENSG00000132199:ENST00000251101:exon10:c.T739A:p.L247M;ENSG00000132199:ENST00000383578:exon9:c.T493A:p.L165M;ENSG00000132199:ENST00000580982:exon7:c.T511A:p.L171M;ENSG00000132199:ENST00000340116:exon10:c.T802A:p.L268M;	6.08418472899402E-5	0.008
18	686007	A	C	18	686007	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.T655G:p.F219V;ENOSF1:NM_001126123:exon9:c.T409G:p.F137V;ENOSF1:NM_202758:exon10:c.T718G:p.F240V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon10:c.T655G:p.F219V;ENSG00000132199:ENST00000383578:exon9:c.T409G:p.F137V;ENSG00000132199:ENST00000580982:exon7:c.T427G:p.F143V;ENSG00000132199:ENST00000340116:exon10:c.T718G:p.F240V;	0.0693106017206798	0.206
18	686007	A	G	18	686007	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.T655C:p.F219L;ENOSF1:NM_001126123:exon9:c.T409C:p.F137L;ENOSF1:NM_202758:exon10:c.T718C:p.F240L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon10:c.T655C:p.F219L;ENSG00000132199:ENST00000383578:exon9:c.T409C:p.F137L;ENSG00000132199:ENST00000580982:exon7:c.T427C:p.F143L;ENSG00000132199:ENST00000340116:exon10:c.T718C:p.F240L;	0.0967462113989088	0.156
18	686007	A	T	18	686007	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.T655A:p.F219I;ENOSF1:NM_001126123:exon9:c.T409A:p.F137I;ENOSF1:NM_202758:exon10:c.T718A:p.F240I;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon10:c.T655A:p.F219I;ENSG00000132199:ENST00000383578:exon9:c.T409A:p.F137I;ENSG00000132199:ENST00000580982:exon7:c.T427A:p.F143I;ENSG00000132199:ENST00000340116:exon10:c.T718A:p.F240I;	0.00499217742810921	0.076
18	686008	C	A	18	686008	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.G654T:p.R218S;ENOSF1:NM_001126123:exon9:c.G408T:p.R136S;ENOSF1:NM_202758:exon10:c.G717T:p.R239S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon10:c.G654T:p.R218S;ENSG00000132199:ENST00000383578:exon9:c.G408T:p.R136S;ENSG00000132199:ENST00000580982:exon7:c.G426T:p.R142S;ENSG00000132199:ENST00000340116:exon10:c.G717T:p.R239S;	0.995007410961806	0.73
18	686008	C	G	18	686008	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon10:c.G654C:p.R218S;ENOSF1:NM_001126123:exon9:c.G408C:p.R136S;ENOSF1:NM_202758:exon10:c.G717C:p.R239S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon10:c.G654C:p.R218S;ENSG00000132199:ENST00000383578:exon9:c.G408C:p.R136S;ENSG00000132199:ENST00000580982:exon7:c.G426C:p.R142S;ENSG00000132199:ENST00000340116:exon10:c.G717C:p.R239S;	0.98206697516511	0.686
18	686008	C	T	18	686008	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon10:c.G654A:p.R218R;ENOSF1:NM_001126123:exon9:c.G408A:p.R136R;ENOSF1:NM_202758:exon10:c.G717A:p.R239R;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000251101:exon10:c.G654A:p.R218R;ENSG00000132199:ENST00000383578:exon9:c.G408A:p.R136R;ENSG00000132199:ENST00000580982:exon7:c.G426A:p.R142R;ENSG00000132199:ENST00000340116:exon10:c.G717A:p.R239R;	0.316324205972371	0.362
18	686009	C	A	18	686009	y	y	splicing	ENOSF1(NM_001126123:exon10:c.408-1G>T;NM_017512:exon11:c.654-1G>T;NM_202758:exon11:c.717-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.408-1G>T;ENST00000251101:exon11:c.654-1G>T;ENST00000581475:exon9:c.656-1G>T;ENST00000340116:exon11:c.717-1G>T;ENST00000580982:exon8:c.426-1G>T;ENST00000585128:exon10:c.474-1G>T;ENST00000584453:exon10:c.581-1G>T)	.	.	0.999987958061382	0.77
18	686009	C	G	18	686009	y	y	splicing	ENOSF1(NM_001126123:exon10:c.408-1G>C;NM_017512:exon11:c.654-1G>C;NM_202758:exon11:c.717-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.408-1G>C;ENST00000251101:exon11:c.654-1G>C;ENST00000581475:exon9:c.656-1G>C;ENST00000340116:exon11:c.717-1G>C;ENST00000580982:exon8:c.426-1G>C;ENST00000585128:exon10:c.474-1G>C;ENST00000584453:exon10:c.581-1G>C)	.	.	0.999987958061382	0.77
18	686009	C	T	18	686009	y	y	splicing	ENOSF1(NM_001126123:exon10:c.408-1G>A;NM_017512:exon11:c.654-1G>A;NM_202758:exon11:c.717-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.408-1G>A;ENST00000251101:exon11:c.654-1G>A;ENST00000581475:exon9:c.656-1G>A;ENST00000340116:exon11:c.717-1G>A;ENST00000580982:exon8:c.426-1G>A;ENST00000585128:exon10:c.474-1G>A;ENST00000584453:exon10:c.581-1G>A)	.	.	0.999987958061382	0.768
18	686010	T	A	18	686010	y	y	splicing	ENOSF1(NM_001126123:exon10:c.408-2A>T;NM_017512:exon11:c.654-2A>T;NM_202758:exon11:c.717-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.408-2A>T;ENST00000251101:exon11:c.654-2A>T;ENST00000581475:exon9:c.656-2A>T;ENST00000340116:exon11:c.717-2A>T;ENST00000580982:exon8:c.426-2A>T;ENST00000585128:exon10:c.474-2A>T;ENST00000584453:exon10:c.581-2A>T)	.	.	0.99925213768365	0.64
18	686010	T	C	18	686010	y	y	splicing	ENOSF1(NM_001126123:exon10:c.408-2A>G;NM_017512:exon11:c.654-2A>G;NM_202758:exon11:c.717-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.408-2A>G;ENST00000251101:exon11:c.654-2A>G;ENST00000581475:exon9:c.656-2A>G;ENST00000340116:exon11:c.717-2A>G;ENST00000580982:exon8:c.426-2A>G;ENST00000585128:exon10:c.474-2A>G;ENST00000584453:exon10:c.581-2A>G)	.	.	0.999322499065183	0.644
18	686010	T	G	18	686010	y	y	splicing	ENOSF1(NM_001126123:exon10:c.408-2A>C;NM_017512:exon11:c.654-2A>C;NM_202758:exon11:c.717-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon10:c.408-2A>C;ENST00000251101:exon11:c.654-2A>C;ENST00000581475:exon9:c.656-2A>C;ENST00000340116:exon11:c.717-2A>C;ENST00000580982:exon8:c.426-2A>C;ENST00000585128:exon10:c.474-2A>C;ENST00000584453:exon10:c.581-2A>C)	.	.	0.999322499065183	0.644
18	686011	A	C	18	686011	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.931833162698456	0.718
18	686011	A	G	18	686011	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.24679877892767E-5	0.004
18	686011	A	T	18	686011	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0339577553268045	0.29
18	686012	G	A	18	686012	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.51965981708353E-5	0.0
18	686012	G	C	18	686012	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.56970194729883E-5	0.132
18	686012	G	T	18	686012	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.75238368925507E-5	0.0
18	686013	A	C	18	686013	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.852142783237109	0.508
18	686013	A	G	18	686013	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00254340266612272	0.146
18	686013	A	T	18	686013	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.925315496961483	0.496
18	686014	A	C	18	686014	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.943496772635042	0.674
18	686014	A	G	18	686014	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.18602078207417E-4	0.03
18	686014	A	T	18	686014	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.900408061553487	0.62
18	686015	A	C	18	686015	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00426699520113626	0.12
18	686015	A	G	18	686015	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.59184928943539E-5	0.028
18	686015	A	T	18	686015	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00648479809577369	0.096
18	686016	A	C	18	686016	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99994528624825	0.97
18	686016	A	G	18	686016	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.09788566323291E-5	0.01
18	686016	A	T	18	686016	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0303297314897622	0.238
18	686017	T	A	18	686017	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.250243698046E-5	0.004
18	686017	T	C	18	686017	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.28479489586265E-5	0.0
18	686017	T	G	18	686017	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.250243698046E-5	0.0
18	686018	G	A	18	686018	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.33291197736037E-5	0.0
18	686018	G	C	18	686018	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.79261265721081E-4	0.018
18	686018	G	T	18	686018	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.83709099066766E-4	0.01
18	686019	C	A	18	686019	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.26686950835473E-5	0.024
18	686019	C	G	18	686019	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.3096521922547E-5	0.0
18	686019	C	T	18	686019	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.43352598550544E-4	0.012
18	686020	A	C	18	686020	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999574580979519	0.936
18	686020	A	G	18	686020	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.00465394592088E-4	0.004
18	686020	A	T	18	686020	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999540965119574	0.926
18	686769	C	A	18	686769	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.15131662635767E-5	0.0
18	686769	C	G	18	686769	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.15131662635767E-5	0.0
18	686769	C	T	18	686769	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.15131662635767E-5	0.0
18	686770	A	C	18	686770	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.33984070840462E-5	0.0
18	686770	A	G	18	686770	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.33984070840462E-5	0.0
18	686770	A	T	18	686770	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.33984070840462E-5	0.0
18	686771	G	A	18	686771	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.00675832680685E-4	0.002
18	686771	G	C	18	686771	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.1548255067557E-5	0.0
18	686771	G	T	18	686771	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.32510510707312E-5	0.0
18	686772	C	A	18	686772	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.32510510707312E-5	0.0
18	686772	C	G	18	686772	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.32510510707312E-5	0.0
18	686772	C	T	18	686772	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.00675832680685E-4	0.0
18	686773	C	A	18	686773	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.7749166663215E-5	0.0
18	686773	C	G	18	686773	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.19067828697559E-5	0.0
18	686773	C	T	18	686773	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.7749166663215E-5	0.0
18	686774	T	A	18	686774	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.28207984957438E-5	0.0
18	686774	T	C	18	686774	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.10698612403206E-5	0.0
18	686774	T	G	18	686774	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.10698612403206E-5	0.0
18	686775	A	C	18	686775	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199	.	.	2.68219155180855E-5	0.0
18	686775	A	G	18	686775	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199	.	.	2.68219155180855E-5	0.0
18	686775	A	T	18	686775	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199	.	.	4.14301101535901E-5	0.0
18	686776	C	A	18	686776	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199	.	.	6.89925739660516E-5	0.006
18	686776	C	G	18	686776	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199	.	.	6.89925739660516E-5	0.004
18	686776	C	T	18	686776	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199	.	.	5.15941453541388E-5	0.014
18	686777	C	A	18	686777	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	3.0180149904064E-5	0.002
18	686777	C	G	18	686777	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	1.27145488438373E-5	0.0
18	686777	C	T	18	686777	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	5.50552619103442E-5	0.0
18	686778	C	A	18	686778	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	2.64873789107489E-5	0.002
18	686778	C	G	18	686778	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	1.27145488438373E-5	0.0
18	686778	C	T	18	686778	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	5.50552619103442E-5	0.0
18	686779	T	A	18	686779	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	3.80109675654916E-5	0.0
18	686779	T	C	18	686779	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	5.08291490468438E-5	0.008
18	686779	T	G	18	686779	n	y	intronic	ENOSF1	.	.	UTR5	ENSG00000132199	.	.	5.08291490468438E-5	0.008
18	688566	A	C	18	688566	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.9469183429777E-5	0.0
18	688566	A	G	18	688566	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.9469183429777E-5	0.0
18	688566	A	T	18	688566	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.05918261028706E-4	0.0
18	688567	C	A	18	688567	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.59846007660086E-5	0.002
18	688567	C	G	18	688567	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.69098420405439E-5	0.002
18	688567	C	T	18	688567	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.90363115031907E-5	0.002
18	688568	A	C	18	688568	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00457036830908512	0.228
18	688568	A	G	18	688568	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0371854433652545	0.41
18	688568	A	T	18	688568	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0431927108312801	0.366
18	688569	C	A	18	688569	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.990603406056413	0.568
18	688569	C	G	18	688569	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.974490291174584	0.574
18	688569	C	T	18	688569	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.970346545416682	0.554
18	688570	T	A	18	688570	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.659448707841319	0.408
18	688570	T	C	18	688570	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.281914564910198	0.362
18	688570	T	G	18	688570	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0677190632427087	0.346
18	688571	C	A	18	688571	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00542039590380042	0.192
18	688571	C	G	18	688571	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00562515974511946	0.132
18	688571	C	T	18	688571	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.59330318493624E-6	0.004
18	688572	A	C	18	688572	y	y	splicing	ENOSF1(NM_001126123:exon9:c.407+2T>G;NM_017512:exon10:c.653+2T>G;NM_202758:exon10:c.716+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.407+2T>G;ENST00000251101:exon10:c.653+2T>G;ENST00000581475:exon8:c.655+2T>G;ENST00000340116:exon10:c.716+2T>G;ENST00000580982:exon7:c.425+2T>G;ENST00000585128:exon9:c.473+2T>G;ENST00000584453:exon9:c.580+2T>G)	.	.	0.999964896440643	0.932
18	688572	A	G	18	688572	y	y	splicing	ENOSF1(NM_001126123:exon9:c.407+2T>C;NM_017512:exon10:c.653+2T>C;NM_202758:exon10:c.716+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.407+2T>C;ENST00000251101:exon10:c.653+2T>C;ENST00000581475:exon8:c.655+2T>C;ENST00000340116:exon10:c.716+2T>C;ENST00000580982:exon7:c.425+2T>C;ENST00000585128:exon9:c.473+2T>C;ENST00000584453:exon9:c.580+2T>C)	.	.	0.999819218655501	0.886
18	688572	A	T	18	688572	y	y	splicing	ENOSF1(NM_001126123:exon9:c.407+2T>A;NM_017512:exon10:c.653+2T>A;NM_202758:exon10:c.716+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.407+2T>A;ENST00000251101:exon10:c.653+2T>A;ENST00000581475:exon8:c.655+2T>A;ENST00000340116:exon10:c.716+2T>A;ENST00000580982:exon7:c.425+2T>A;ENST00000585128:exon9:c.473+2T>A;ENST00000584453:exon9:c.580+2T>A)	.	.	0.999946188727699	0.934
18	688573	C	A	18	688573	y	y	splicing	ENOSF1(NM_001126123:exon9:c.407+1G>T;NM_017512:exon10:c.653+1G>T;NM_202758:exon10:c.716+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.407+1G>T;ENST00000251101:exon10:c.653+1G>T;ENST00000581475:exon8:c.655+1G>T;ENST00000340116:exon10:c.716+1G>T;ENST00000580982:exon7:c.425+1G>T;ENST00000585128:exon9:c.473+1G>T;ENST00000584453:exon9:c.580+1G>T)	.	.	0.99996469115006	0.906
18	688573	C	G	18	688573	y	y	splicing	ENOSF1(NM_001126123:exon9:c.407+1G>C;NM_017512:exon10:c.653+1G>C;NM_202758:exon10:c.716+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.407+1G>C;ENST00000251101:exon10:c.653+1G>C;ENST00000581475:exon8:c.655+1G>C;ENST00000340116:exon10:c.716+1G>C;ENST00000580982:exon7:c.425+1G>C;ENST00000585128:exon9:c.473+1G>C;ENST00000584453:exon9:c.580+1G>C)	.	.	0.999965722254998	0.84
18	688573	C	T	18	688573	y	y	splicing	ENOSF1(NM_001126123:exon9:c.407+1G>A;NM_017512:exon10:c.653+1G>A;NM_202758:exon10:c.716+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.407+1G>A;ENST00000251101:exon10:c.653+1G>A;ENST00000581475:exon8:c.655+1G>A;ENST00000340116:exon10:c.716+1G>A;ENST00000580982:exon7:c.425+1G>A;ENST00000585128:exon9:c.473+1G>A;ENST00000584453:exon9:c.580+1G>A)	.	.	0.99996469115006	0.908
18	688574	C	A	18	688574	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.G653T:p.R218M;ENOSF1:NM_001126123:exon8:c.G407T:p.R136M;ENOSF1:NM_202758:exon9:c.G716T:p.R239M;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.G653T:p.R218M;ENSG00000132199:ENST00000383578:exon8:c.G407T:p.R136M;ENSG00000132199:ENST00000580982:exon6:c.G425T:p.R142M;ENSG00000132199:ENST00000340116:exon9:c.G716T:p.R239M;	0.873414194717169	0.608
18	688574	C	G	18	688574	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.G653C:p.R218T;ENOSF1:NM_001126123:exon8:c.G407C:p.R136T;ENOSF1:NM_202758:exon9:c.G716C:p.R239T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.G653C:p.R218T;ENSG00000132199:ENST00000383578:exon8:c.G407C:p.R136T;ENSG00000132199:ENST00000580982:exon6:c.G425C:p.R142T;ENSG00000132199:ENST00000340116:exon9:c.G716C:p.R239T;	0.933511945712731	0.54
18	688574	C	T	18	688574	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.G653A:p.R218K;ENOSF1:NM_001126123:exon8:c.G407A:p.R136K;ENOSF1:NM_202758:exon9:c.G716A:p.R239K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.G653A:p.R218K;ENSG00000132199:ENST00000383578:exon8:c.G407A:p.R136K;ENSG00000132199:ENST00000580982:exon6:c.G425A:p.R142K;ENSG00000132199:ENST00000340116:exon9:c.G716A:p.R239K;	0.997107544853827	0.812
18	688575	T	A	18	688575	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.A652T:p.R218W;ENOSF1:NM_001126123:exon8:c.A406T:p.R136W;ENOSF1:NM_202758:exon9:c.A715T:p.R239W;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.A652T:p.R218W;ENSG00000132199:ENST00000383578:exon8:c.A406T:p.R136W;ENSG00000132199:ENST00000580982:exon6:c.A424T:p.R142W;ENSG00000132199:ENST00000340116:exon9:c.A715T:p.R239W;	0.0962798161013272	0.45
18	688575	T	C	18	688575	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.A652G:p.R218G;ENOSF1:NM_001126123:exon8:c.A406G:p.R136G;ENOSF1:NM_202758:exon9:c.A715G:p.R239G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.A652G:p.R218G;ENSG00000132199:ENST00000383578:exon8:c.A406G:p.R136G;ENSG00000132199:ENST00000580982:exon6:c.A424G:p.R142G;ENSG00000132199:ENST00000340116:exon9:c.A715G:p.R239G;	0.0583742652331222	0.326
18	688575	T	G	18	688575	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon9:c.A652C:p.R218R;ENOSF1:NM_001126123:exon8:c.A406C:p.R136R;ENOSF1:NM_202758:exon9:c.A715C:p.R239R;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.A652C:p.R218R;ENSG00000132199:ENST00000383578:exon8:c.A406C:p.R136R;ENSG00000132199:ENST00000580982:exon6:c.A424C:p.R142R;ENSG00000132199:ENST00000340116:exon9:c.A715C:p.R239R;	0.0608304954689229	0.37
18	688576	G	A	18	688576	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon9:c.C651T:p.T217T;ENOSF1:NM_001126123:exon8:c.C405T:p.T135T;ENOSF1:NM_202758:exon9:c.C714T:p.T238T;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.C651T:p.T217T;ENSG00000132199:ENST00000383578:exon8:c.C405T:p.T135T;ENSG00000132199:ENST00000580982:exon6:c.C423T:p.T141T;ENSG00000132199:ENST00000340116:exon9:c.C714T:p.T238T;	0.00174059639163809	0.08
18	688576	G	C	18	688576	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon9:c.C651G:p.T217T;ENOSF1:NM_001126123:exon8:c.C405G:p.T135T;ENOSF1:NM_202758:exon9:c.C714G:p.T238T;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.C651G:p.T217T;ENSG00000132199:ENST00000383578:exon8:c.C405G:p.T135T;ENSG00000132199:ENST00000580982:exon6:c.C423G:p.T141T;ENSG00000132199:ENST00000340116:exon9:c.C714G:p.T238T;	7.04875340168185E-5	0.004
18	688576	G	T	18	688576	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon9:c.C651A:p.T217T;ENOSF1:NM_001126123:exon8:c.C405A:p.T135T;ENOSF1:NM_202758:exon9:c.C714A:p.T238T;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.C651A:p.T217T;ENSG00000132199:ENST00000383578:exon8:c.C405A:p.T135T;ENSG00000132199:ENST00000580982:exon6:c.C423A:p.T141T;ENSG00000132199:ENST00000340116:exon9:c.C714A:p.T238T;	2.83521031057715E-5	0.01
18	688607	A	C	18	688607	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.T620G:p.L207R;ENOSF1:NM_001126123:exon8:c.T374G:p.L125R;ENOSF1:NM_202758:exon9:c.T683G:p.L228R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.T620G:p.L207R;ENSG00000132199:ENST00000383578:exon8:c.T374G:p.L125R;ENSG00000132199:ENST00000580982:exon6:c.T392G:p.L131R;ENSG00000132199:ENST00000340116:exon9:c.T683G:p.L228R;	4.75183247145302E-4	0.0
18	688607	A	G	18	688607	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.T620C:p.L207P;ENOSF1:NM_001126123:exon8:c.T374C:p.L125P;ENOSF1:NM_202758:exon9:c.T683C:p.L228P;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.T620C:p.L207P;ENSG00000132199:ENST00000383578:exon8:c.T374C:p.L125P;ENSG00000132199:ENST00000580982:exon6:c.T392C:p.L131P;ENSG00000132199:ENST00000340116:exon9:c.T683C:p.L228P;	0.00586434083601039	0.03
18	688607	A	T	18	688607	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.T620A:p.L207H;ENOSF1:NM_001126123:exon8:c.T374A:p.L125H;ENOSF1:NM_202758:exon9:c.T683A:p.L228H;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.T620A:p.L207H;ENSG00000132199:ENST00000383578:exon8:c.T374A:p.L125H;ENSG00000132199:ENST00000580982:exon6:c.T392A:p.L131H;ENSG00000132199:ENST00000340116:exon9:c.T683A:p.L228H;	0.00566080764337094	0.03
18	688608	G	A	18	688608	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.C619T:p.L207F;ENOSF1:NM_001126123:exon8:c.C373T:p.L125F;ENOSF1:NM_202758:exon9:c.C682T:p.L228F;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.C619T:p.L207F;ENSG00000132199:ENST00000383578:exon8:c.C373T:p.L125F;ENSG00000132199:ENST00000580982:exon6:c.C391T:p.L131F;ENSG00000132199:ENST00000340116:exon9:c.C682T:p.L228F;	0.00862707142632377	0.282
18	688608	G	C	18	688608	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.C619G:p.L207V;ENOSF1:NM_001126123:exon8:c.C373G:p.L125V;ENOSF1:NM_202758:exon9:c.C682G:p.L228V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.C619G:p.L207V;ENSG00000132199:ENST00000383578:exon8:c.C373G:p.L125V;ENSG00000132199:ENST00000580982:exon6:c.C391G:p.L131V;ENSG00000132199:ENST00000340116:exon9:c.C682G:p.L228V;	8.31027067065387E-4	0.074
18	688608	G	T	18	688608	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon9:c.C619A:p.L207I;ENOSF1:NM_001126123:exon8:c.C373A:p.L125I;ENOSF1:NM_202758:exon9:c.C682A:p.L228I;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon9:c.C619A:p.L207I;ENSG00000132199:ENST00000383578:exon8:c.C373A:p.L125I;ENSG00000132199:ENST00000580982:exon6:c.C391A:p.L131I;ENSG00000132199:ENST00000340116:exon9:c.C682A:p.L228I;	0.00107207806546537	0.02
18	688609	C	A	18	688609	y	y	splicing	ENOSF1(NM_001126123:exon9:c.373-1G>T;NM_017512:exon10:c.619-1G>T;NM_202758:exon10:c.682-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.373-1G>T;ENST00000251101:exon10:c.619-1G>T;ENST00000581475:exon8:c.621-1G>T;ENST00000340116:exon10:c.682-1G>T;ENST00000580982:exon7:c.391-1G>T;ENST00000585128:exon9:c.439-1G>T;ENST00000584453:exon9:c.546-1G>T)	.	.	0.999977162774916	0.872
18	688609	C	G	18	688609	y	y	splicing	ENOSF1(NM_001126123:exon9:c.373-1G>C;NM_017512:exon10:c.619-1G>C;NM_202758:exon10:c.682-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.373-1G>C;ENST00000251101:exon10:c.619-1G>C;ENST00000581475:exon8:c.621-1G>C;ENST00000340116:exon10:c.682-1G>C;ENST00000580982:exon7:c.391-1G>C;ENST00000585128:exon9:c.439-1G>C;ENST00000584453:exon9:c.546-1G>C)	.	.	0.999974785031454	0.884
18	688609	C	T	18	688609	y	y	splicing	ENOSF1(NM_001126123:exon9:c.373-1G>A;NM_017512:exon10:c.619-1G>A;NM_202758:exon10:c.682-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.373-1G>A;ENST00000251101:exon10:c.619-1G>A;ENST00000581475:exon8:c.621-1G>A;ENST00000340116:exon10:c.682-1G>A;ENST00000580982:exon7:c.391-1G>A;ENST00000585128:exon9:c.439-1G>A;ENST00000584453:exon9:c.546-1G>A)	.	.	0.99997775019564	0.898
18	688610	T	A	18	688610	y	y	splicing	ENOSF1(NM_001126123:exon9:c.373-2A>T;NM_017512:exon10:c.619-2A>T;NM_202758:exon10:c.682-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.373-2A>T;ENST00000251101:exon10:c.619-2A>T;ENST00000581475:exon8:c.621-2A>T;ENST00000340116:exon10:c.682-2A>T;ENST00000580982:exon7:c.391-2A>T;ENST00000585128:exon9:c.439-2A>T;ENST00000584453:exon9:c.546-2A>T)	.	.	0.999972155025474	0.872
18	688610	T	C	18	688610	y	y	splicing	ENOSF1(NM_001126123:exon9:c.373-2A>G;NM_017512:exon10:c.619-2A>G;NM_202758:exon10:c.682-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.373-2A>G;ENST00000251101:exon10:c.619-2A>G;ENST00000581475:exon8:c.621-2A>G;ENST00000340116:exon10:c.682-2A>G;ENST00000580982:exon7:c.391-2A>G;ENST00000585128:exon9:c.439-2A>G;ENST00000584453:exon9:c.546-2A>G)	.	.	0.999969255906173	0.844
18	688610	T	G	18	688610	y	y	splicing	ENOSF1(NM_001126123:exon9:c.373-2A>C;NM_017512:exon10:c.619-2A>C;NM_202758:exon10:c.682-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon9:c.373-2A>C;ENST00000251101:exon10:c.619-2A>C;ENST00000581475:exon8:c.621-2A>C;ENST00000340116:exon10:c.682-2A>C;ENST00000580982:exon7:c.391-2A>C;ENST00000585128:exon9:c.439-2A>C;ENST00000584453:exon9:c.546-2A>C)	.	.	0.999969255906173	0.86
18	688611	G	A	18	688611	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.01717893529487	0.214
18	688611	G	C	18	688611	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999497925363633	0.93
18	688611	G	T	18	688611	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.455320337443481	0.474
18	688612	T	A	18	688612	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.4024459589545E-5	0.002
18	688612	T	C	18	688612	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.99230049420779E-5	0.0
18	688612	T	G	18	688612	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.43867007625026E-5	0.002
18	688613	G	A	18	688613	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.02049891188551E-5	0.002
18	688613	G	C	18	688613	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.58971756692274E-4	0.036
18	688613	G	T	18	688613	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.87950113369358E-5	0.014
18	688614	G	A	18	688614	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.5002209044357E-5	0.004
18	688614	G	C	18	688614	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.87834083458916E-4	0.082
18	688614	G	T	18	688614	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0012326088485926	0.068
18	688615	G	A	18	688615	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.20223100845363E-4	0.048
18	688615	G	C	18	688615	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.96308563291056E-4	0.156
18	688615	G	T	18	688615	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00178745986089969	0.156
18	688616	A	C	18	688616	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.80157865129135E-5	0.048
18	688616	A	G	18	688616	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.10610575687641E-5	0.0
18	688616	A	T	18	688616	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.10947584204792E-4	0.052
18	688617	A	C	18	688617	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.51447017814644E-5	0.036
18	688617	A	G	18	688617	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.83711716238446E-5	0.024
18	688617	A	T	18	688617	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.60439244815019E-5	0.042
18	688618	A	C	18	688618	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00171908830214121	0.236
18	688618	A	G	18	688618	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.01645181852271E-4	0.014
18	688618	A	T	18	688618	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00203183636282246	0.26
18	688619	G	A	18	688619	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.62453981588567E-5	0.002
18	688619	G	C	18	688619	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.07856499922649E-5	0.008
18	688619	G	T	18	688619	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.45949378636224E-4	0.044
18	688620	G	A	18	688620	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.29448637569301E-5	0.0
18	688620	G	C	18	688620	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.59591988048183E-4	0.012
18	688620	G	T	18	688620	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.93097669583846E-4	0.036
18	690541	A	C	18	690541	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.19071557866425E-4	0.008
18	690541	A	G	18	690541	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.07885625527724E-4	0.002
18	690541	A	T	18	690541	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.28063893970661E-4	0.002
18	690542	T	A	18	690542	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.85892088628007E-5	0.006
18	690542	T	C	18	690542	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.44312574922614E-5	0.0
18	690542	T	G	18	690542	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.31661453328292E-4	0.002
18	690543	G	A	18	690543	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.68879409084043E-5	0.002
18	690543	G	C	18	690543	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.17624196449456E-4	0.016
18	690543	G	T	18	690543	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.54757535548307E-4	0.09
18	690544	C	A	18	690544	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999968601724267	0.986
18	690544	C	G	18	690544	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.998780722182292	0.982
18	690544	C	T	18	690544	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.998974532035688	0.992
18	690545	C	A	18	690545	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00142998843274982	0.104
18	690545	C	G	18	690545	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.6109297317071E-4	0.246
18	690545	C	T	18	690545	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.50220328971792E-4	0.092
18	690546	C	A	18	690546	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.194595260390509	0.512
18	690546	C	G	18	690546	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0194915906646387	0.528
18	690546	C	T	18	690546	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.29042624894134E-4	0.098
18	690547	A	C	18	690547	y	y	splicing	ENOSF1(NM_001126123:exon8:c.372+2T>G;NM_017512:exon9:c.618+2T>G;NM_202758:exon9:c.681+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon8:c.372+2T>G;ENST00000251101:exon9:c.618+2T>G;ENST00000581475:exon7:c.620+2T>G;ENST00000340116:exon9:c.681+2T>G;ENST00000580982:exon6:c.390+2T>G;ENST00000585128:exon8:c.438+2T>G;ENST00000584453:exon8:c.545+2T>G)	.	.	0.999984890425641	0.93
18	690547	A	G	18	690547	y	y	splicing	ENOSF1(NM_001126123:exon8:c.372+2T>C;NM_017512:exon9:c.618+2T>C;NM_202758:exon9:c.681+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon8:c.372+2T>C;ENST00000251101:exon9:c.618+2T>C;ENST00000581475:exon7:c.620+2T>C;ENST00000340116:exon9:c.681+2T>C;ENST00000580982:exon6:c.390+2T>C;ENST00000585128:exon8:c.438+2T>C;ENST00000584453:exon8:c.545+2T>C)	.	.	0.999927582646439	0.902
18	690547	A	T	18	690547	y	y	splicing	ENOSF1(NM_001126123:exon8:c.372+2T>A;NM_017512:exon9:c.618+2T>A;NM_202758:exon9:c.681+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon8:c.372+2T>A;ENST00000251101:exon9:c.618+2T>A;ENST00000581475:exon7:c.620+2T>A;ENST00000340116:exon9:c.681+2T>A;ENST00000580982:exon6:c.390+2T>A;ENST00000585128:exon8:c.438+2T>A;ENST00000584453:exon8:c.545+2T>A)	.	.	0.999984890425641	0.93
18	690548	C	A	18	690548	y	y	splicing	ENOSF1(NM_001126123:exon8:c.372+1G>T;NM_017512:exon9:c.618+1G>T;NM_202758:exon9:c.681+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon8:c.372+1G>T;ENST00000251101:exon9:c.618+1G>T;ENST00000581475:exon7:c.620+1G>T;ENST00000340116:exon9:c.681+1G>T;ENST00000580982:exon6:c.390+1G>T;ENST00000585128:exon8:c.438+1G>T;ENST00000584453:exon8:c.545+1G>T)	.	.	0.999973155962011	0.936
18	690548	C	G	18	690548	y	y	splicing	ENOSF1(NM_001126123:exon8:c.372+1G>C;NM_017512:exon9:c.618+1G>C;NM_202758:exon9:c.681+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon8:c.372+1G>C;ENST00000251101:exon9:c.618+1G>C;ENST00000581475:exon7:c.620+1G>C;ENST00000340116:exon9:c.681+1G>C;ENST00000580982:exon6:c.390+1G>C;ENST00000585128:exon8:c.438+1G>C;ENST00000584453:exon8:c.545+1G>C)	.	.	0.999973155962011	0.936
18	690548	C	T	18	690548	y	y	splicing	ENOSF1(NM_001126123:exon8:c.372+1G>A;NM_017512:exon9:c.618+1G>A;NM_202758:exon9:c.681+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon8:c.372+1G>A;ENST00000251101:exon9:c.618+1G>A;ENST00000581475:exon7:c.620+1G>A;ENST00000340116:exon9:c.681+1G>A;ENST00000580982:exon6:c.390+1G>A;ENST00000585128:exon8:c.438+1G>A;ENST00000584453:exon8:c.545+1G>A)	.	.	0.999973155962011	0.936
18	690549	C	A	18	690549	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.G618T:p.Q206H;ENOSF1:NM_001126123:exon7:c.G372T:p.Q124H;ENOSF1:NM_202758:exon8:c.G681T:p.Q227H;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon8:c.G618T:p.Q206H;ENSG00000132199:ENST00000383578:exon7:c.G372T:p.Q124H;ENSG00000132199:ENST00000580982:exon5:c.G390T:p.Q130H;ENSG00000132199:ENST00000340116:exon8:c.G681T:p.Q227H;	0.999985991840029	0.996
18	690549	C	G	18	690549	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.G618C:p.Q206H;ENOSF1:NM_001126123:exon7:c.G372C:p.Q124H;ENOSF1:NM_202758:exon8:c.G681C:p.Q227H;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon8:c.G618C:p.Q206H;ENSG00000132199:ENST00000383578:exon7:c.G372C:p.Q124H;ENSG00000132199:ENST00000580982:exon5:c.G390C:p.Q130H;ENSG00000132199:ENST00000340116:exon8:c.G681C:p.Q227H;	0.999997101429227	0.998
18	690549	C	T	18	690549	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon8:c.G618A:p.Q206Q;ENOSF1:NM_001126123:exon7:c.G372A:p.Q124Q;ENOSF1:NM_202758:exon8:c.G681A:p.Q227Q;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000251101:exon8:c.G618A:p.Q206Q;ENSG00000132199:ENST00000383578:exon7:c.G372A:p.Q124Q;ENSG00000132199:ENST00000580982:exon5:c.G390A:p.Q130Q;ENSG00000132199:ENST00000340116:exon8:c.G681A:p.Q227Q;	0.999994415601186	1.0
18	690550	T	A	18	690550	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.A617T:p.Q206L;ENOSF1:NM_001126123:exon7:c.A371T:p.Q124L;ENOSF1:NM_202758:exon8:c.A680T:p.Q227L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon8:c.A617T:p.Q206L;ENSG00000132199:ENST00000383578:exon7:c.A371T:p.Q124L;ENSG00000132199:ENST00000580982:exon5:c.A389T:p.Q130L;ENSG00000132199:ENST00000340116:exon8:c.A680T:p.Q227L;	0.999894585870432	1.0
18	690550	T	C	18	690550	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.A617G:p.Q206R;ENOSF1:NM_001126123:exon7:c.A371G:p.Q124R;ENOSF1:NM_202758:exon8:c.A680G:p.Q227R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon8:c.A617G:p.Q206R;ENSG00000132199:ENST00000383578:exon7:c.A371G:p.Q124R;ENSG00000132199:ENST00000580982:exon5:c.A389G:p.Q130R;ENSG00000132199:ENST00000340116:exon8:c.A680G:p.Q227R;	0.970477567714844	0.716
18	690550	T	G	18	690550	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.A617C:p.Q206P;ENOSF1:NM_001126123:exon7:c.A371C:p.Q124P;ENOSF1:NM_202758:exon8:c.A680C:p.Q227P;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon8:c.A617C:p.Q206P;ENSG00000132199:ENST00000383578:exon7:c.A371C:p.Q124P;ENSG00000132199:ENST00000580982:exon5:c.A389C:p.Q130P;ENSG00000132199:ENST00000340116:exon8:c.A680C:p.Q227P;	0.999633791952796	0.992
18	690551	G	A	18	690551	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon8:c.C616T:p.Q206X;ENOSF1:NM_001126123:exon7:c.C370T:p.Q124X;ENOSF1:NM_202758:exon8:c.C679T:p.Q227X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000251101:exon8:c.C616T:p.Q206X;ENSG00000132199:ENST00000383578:exon7:c.C370T:p.Q124X;ENSG00000132199:ENST00000580982:exon5:c.C388T:p.Q130X;ENSG00000132199:ENST00000340116:exon8:c.C679T:p.Q227X;	0.935437613299794	0.744
18	690551	G	C	18	690551	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.C616G:p.Q206E;ENOSF1:NM_001126123:exon7:c.C370G:p.Q124E;ENOSF1:NM_202758:exon8:c.C679G:p.Q227E;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon8:c.C616G:p.Q206E;ENSG00000132199:ENST00000383578:exon7:c.C370G:p.Q124E;ENSG00000132199:ENST00000580982:exon5:c.C388G:p.Q130E;ENSG00000132199:ENST00000340116:exon8:c.C679G:p.Q227E;	0.0132354441176234	0.2
18	690551	G	T	18	690551	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.C616A:p.Q206K;ENOSF1:NM_001126123:exon7:c.C370A:p.Q124K;ENOSF1:NM_202758:exon8:c.C679A:p.Q227K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000251101:exon8:c.C616A:p.Q206K;ENSG00000132199:ENST00000383578:exon7:c.C370A:p.Q124K;ENSG00000132199:ENST00000580982:exon5:c.C388A:p.Q130K;ENSG00000132199:ENST00000340116:exon8:c.C679A:p.Q227K;	0.0259546060010734	0.118
18	690630	C	A	18	690630	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.G537T:p.E179D;ENOSF1:NM_001126123:exon7:c.G291T:p.E97D;ENOSF1:NM_202758:exon8:c.G600T:p.E200D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon7:c.G464T:p.R155I;ENSG00000132199:ENST00000583771:exon6:c.G231T:p.E77D;ENSG00000132199:ENST00000251101:exon8:c.G537T:p.E179D;ENSG00000132199:ENST00000581475:exon6:c.G539T:p.R180I;ENSG00000132199:ENST00000383578:exon7:c.G291T:p.E97D;ENSG00000132199:ENST00000580982:exon5:c.G309T:p.E103D;ENSG00000132199:ENST00000340116:exon8:c.G600T:p.E200D;	1.29692596971677E-5	0.0
18	690630	C	G	18	690630	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.G537C:p.E179D;ENOSF1:NM_001126123:exon7:c.G291C:p.E97D;ENOSF1:NM_202758:exon8:c.G600C:p.E200D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon7:c.G464C:p.R155T;ENSG00000132199:ENST00000583771:exon6:c.G231C:p.E77D;ENSG00000132199:ENST00000251101:exon8:c.G537C:p.E179D;ENSG00000132199:ENST00000581475:exon6:c.G539C:p.R180T;ENSG00000132199:ENST00000383578:exon7:c.G291C:p.E97D;ENSG00000132199:ENST00000580982:exon5:c.G309C:p.E103D;ENSG00000132199:ENST00000340116:exon8:c.G600C:p.E200D;	4.33407090631473E-5	0.0
18	690630	C	T	18	690630	y	n	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon8:c.G537A:p.E179E;ENOSF1:NM_001126123:exon7:c.G291A:p.E97E;ENOSF1:NM_202758:exon8:c.G600A:p.E200E;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon7:c.G464A:p.R155K;ENSG00000132199:ENST00000581475:exon6:c.G539A:p.R180K;	1.70937410059719E-4	0.0
18	690631	T	A	18	690631	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.A536T:p.E179V;ENOSF1:NM_001126123:exon7:c.A290T:p.E97V;ENOSF1:NM_202758:exon8:c.A599T:p.E200V;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000584453:exon7:c.A463T:p.R155X;ENSG00000132199:ENST00000581475:exon6:c.A538T:p.R180X;	0.305778880151622	0.43
18	690631	T	C	18	690631	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.A536G:p.E179G;ENOSF1:NM_001126123:exon7:c.A290G:p.E97G;ENOSF1:NM_202758:exon8:c.A599G:p.E200G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon7:c.A463G:p.R155G;ENSG00000132199:ENST00000583771:exon6:c.A230G:p.E77G;ENSG00000132199:ENST00000251101:exon8:c.A536G:p.E179G;ENSG00000132199:ENST00000581475:exon6:c.A538G:p.R180G;ENSG00000132199:ENST00000383578:exon7:c.A290G:p.E97G;ENSG00000132199:ENST00000580982:exon5:c.A308G:p.E103G;ENSG00000132199:ENST00000340116:exon8:c.A599G:p.E200G;	0.118247199661012	0.378
18	690631	T	G	18	690631	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon8:c.A536C:p.E179A;ENOSF1:NM_001126123:exon7:c.A290C:p.E97A;ENOSF1:NM_202758:exon8:c.A599C:p.E200A;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon6:c.A230C:p.E77A;ENSG00000132199:ENST00000251101:exon8:c.A536C:p.E179A;ENSG00000132199:ENST00000383578:exon7:c.A290C:p.E97A;ENSG00000132199:ENST00000580982:exon5:c.A308C:p.E103A;ENSG00000132199:ENST00000340116:exon8:c.A599C:p.E200A;	0.00420650001785218	0.122
18	690632	C	A	18	690632	y	n	splicing	ENOSF1(NM_001126123:exon8:c.290-1G>T;NM_017512:exon9:c.536-1G>T;NM_202758:exon9:c.599-1G>T)	.	.	exonic;splicing	ENSG00000132199;ENSG00000132199(ENST00000383578:exon8:c.290-1G>T;ENST00000251101:exon9:c.536-1G>T;ENST00000340116:exon9:c.599-1G>T;ENST00000580982:exon6:c.308-1G>T;ENST00000585128:exon8:c.356-1G>T;ENST00000584453:exon8:c.463-1G>T;ENST00000583771:exon7:c.230-1G>T)	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G537T:p.Q179H;	0.999962153403958	0.878
18	690632	C	G	18	690632	y	n	splicing	ENOSF1(NM_001126123:exon8:c.290-1G>C;NM_017512:exon9:c.536-1G>C;NM_202758:exon9:c.599-1G>C)	.	.	exonic;splicing	ENSG00000132199;ENSG00000132199(ENST00000383578:exon8:c.290-1G>C;ENST00000251101:exon9:c.536-1G>C;ENST00000340116:exon9:c.599-1G>C;ENST00000580982:exon6:c.308-1G>C;ENST00000585128:exon8:c.356-1G>C;ENST00000584453:exon8:c.463-1G>C;ENST00000583771:exon7:c.230-1G>C)	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G537C:p.Q179H;	0.999962153403958	0.864
18	690632	C	T	18	690632	y	n	splicing	ENOSF1(NM_001126123:exon8:c.290-1G>A;NM_017512:exon9:c.536-1G>A;NM_202758:exon9:c.599-1G>A)	.	.	exonic;splicing	ENSG00000132199;ENSG00000132199(ENST00000383578:exon8:c.290-1G>A;ENST00000251101:exon9:c.536-1G>A;ENST00000340116:exon9:c.599-1G>A;ENST00000580982:exon6:c.308-1G>A;ENST00000585128:exon8:c.356-1G>A;ENST00000584453:exon8:c.463-1G>A;ENST00000583771:exon7:c.230-1G>A)	synonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G537A:p.Q179Q;	0.999965722254998	0.884
18	690633	T	A	18	690633	y	n	splicing	ENOSF1(NM_001126123:exon8:c.290-2A>T;NM_017512:exon9:c.536-2A>T;NM_202758:exon9:c.599-2A>T)	.	.	exonic;splicing	ENSG00000132199;ENSG00000132199(ENST00000383578:exon8:c.290-2A>T;ENST00000251101:exon9:c.536-2A>T;ENST00000340116:exon9:c.599-2A>T;ENST00000580982:exon6:c.308-2A>T;ENST00000585128:exon8:c.356-2A>T;ENST00000584453:exon8:c.463-2A>T;ENST00000583771:exon7:c.230-2A>T)	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.A536T:p.Q179L;	0.999969255906173	0.838
18	690633	T	C	18	690633	y	n	splicing	ENOSF1(NM_001126123:exon8:c.290-2A>G;NM_017512:exon9:c.536-2A>G;NM_202758:exon9:c.599-2A>G)	.	.	exonic;splicing	ENSG00000132199;ENSG00000132199(ENST00000383578:exon8:c.290-2A>G;ENST00000251101:exon9:c.536-2A>G;ENST00000340116:exon9:c.599-2A>G;ENST00000580982:exon6:c.308-2A>G;ENST00000585128:exon8:c.356-2A>G;ENST00000584453:exon8:c.463-2A>G;ENST00000583771:exon7:c.230-2A>G)	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.A536G:p.Q179R;	0.999962958601995	0.836
18	690633	T	G	18	690633	y	n	splicing	ENOSF1(NM_001126123:exon8:c.290-2A>C;NM_017512:exon9:c.536-2A>C;NM_202758:exon9:c.599-2A>C)	.	.	exonic;splicing	ENSG00000132199;ENSG00000132199(ENST00000383578:exon8:c.290-2A>C;ENST00000251101:exon9:c.536-2A>C;ENST00000340116:exon9:c.599-2A>C;ENST00000580982:exon6:c.308-2A>C;ENST00000585128:exon8:c.356-2A>C;ENST00000584453:exon8:c.463-2A>C;ENST00000583771:exon7:c.230-2A>C)	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.A536C:p.Q179P;	0.999962958601995	0.836
18	690634	G	A	18	690634	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000581475:exon6:c.C535T:p.Q179X;	0.379277743909618	0.218
18	690634	G	C	18	690634	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.C535G:p.Q179E;	0.999619145633803	0.84
18	690634	G	T	18	690634	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.C535A:p.Q179K;	0.996856196446906	0.878
18	690635	T	A	18	690635	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.A534T:p.S178S;	1.65633795221547E-5	0.002
18	690635	T	C	18	690635	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.A534G:p.S178S;	2.51443314349258E-5	0.09
18	690635	T	G	18	690635	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.A534C:p.S178S;	1.94248517478559E-5	0.036
18	690636	G	A	18	690636	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.C533T:p.S178L;	1.0377186094156E-4	0.0
18	690636	G	C	18	690636	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000581475:exon6:c.C533G:p.S178X;	0.00140330294240835	0.112
18	690636	G	T	18	690636	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000581475:exon6:c.C533A:p.S178X;	0.00339426301832369	0.102
18	690637	A	C	18	690637	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T532G:p.S178A;	0.0135273641206029	0.262
18	690637	A	G	18	690637	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T532C:p.S178P;	4.43798940209321E-5	0.004
18	690637	A	T	18	690637	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T532A:p.S178T;	0.00564637587959621	0.204
18	690638	A	C	18	690638	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T531G:p.F177L;	0.0488146672938781	0.152
18	690638	A	G	18	690638	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T531C:p.F177F;	4.46653435840406E-5	0.018
18	690638	A	T	18	690638	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T531A:p.F177L;	0.927649080519746	0.544
18	690639	A	C	18	690639	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T530G:p.F177C;	0.0010277402287233	0.158
18	690639	A	G	18	690639	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T530C:p.F177S;	8.69224501713951E-5	0.0
18	690639	A	T	18	690639	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T530A:p.F177Y;	0.0457104021833797	0.21
18	690640	A	C	18	690640	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T529G:p.F177V;	0.205197112693118	0.506
18	690640	A	G	18	690640	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T529C:p.F177L;	0.00384486331418276	0.13
18	690640	A	T	18	690640	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T529A:p.F177I;	0.17390020596127	0.534
18	690641	C	A	18	690641	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G528T:p.V176V;	3.80454135531654E-5	0.02
18	690641	C	G	18	690641	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G528C:p.V176V;	3.69981923408245E-5	0.016
18	690641	C	T	18	690641	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G528A:p.V176V;	0.00105818031577032	0.184
18	690642	A	C	18	690642	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T527G:p.V176G;	0.603450237340074	0.4
18	690642	A	G	18	690642	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T527C:p.V176A;	0.190374073548992	0.252
18	690642	A	T	18	690642	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.T527A:p.V176E;	0.999950052163793	0.936
18	690643	C	A	18	690643	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G526T:p.V176L;	1.51176127383443E-4	0.012
18	690643	C	G	18	690643	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G526C:p.V176L;	1.69615341170226E-4	0.006
18	690643	C	T	18	690643	y	n	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G526A:p.V176M;	7.08678400631575E-4	0.104
18	690744	C	A	18	690744	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G425T:p.G142V;	1.74480241737554E-4	0.0
18	690744	C	G	18	690744	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G425C:p.G142A;	3.23670744562471E-4	0.0
18	690744	C	T	18	690744	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G425A:p.G142D;	3.23670744562471E-4	0.0
18	690745	C	A	18	690745	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G424T:p.G142C;	6.58461283867531E-5	0.01
18	690745	C	G	18	690745	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G424C:p.G142R;	6.58461283867531E-5	0.01
18	690745	C	T	18	690745	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000581475:exon6:c.G424A:p.G142S;	6.22509695417391E-5	0.01
18	690746	C	A	18	690746	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000581475:exon7:c.424-1G>T)	.	.	1.99153316237132E-5	0.0
18	690746	C	G	18	690746	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000581475:exon7:c.424-1G>C)	.	.	1.99153316237132E-5	0.0
18	690746	C	T	18	690746	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000581475:exon7:c.424-1G>A)	.	.	1.99153316237132E-5	0.0
18	690747	T	A	18	690747	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000581475:exon7:c.424-2A>T)	.	.	3.07620641825897E-5	0.0
18	690747	T	C	18	690747	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000581475:exon7:c.424-2A>G)	.	.	1.99153316237132E-5	0.0
18	690747	T	G	18	690747	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000581475:exon7:c.424-2A>C)	.	.	1.99153316237132E-5	0.0
18	690748	G	A	18	690748	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.8057869992506E-5	0.0
18	690748	G	C	18	690748	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.8057869992506E-5	0.0
18	690748	G	T	18	690748	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.8057869992506E-5	0.0
18	690749	C	A	18	690749	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.18551054981151E-5	0.0
18	690749	C	G	18	690749	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.18551054981151E-5	0.0
18	690749	C	T	18	690749	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.18551054981151E-5	0.0
18	690750	A	C	18	690750	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.18551054981151E-5	0.0
18	690750	A	G	18	690750	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.18551054981151E-5	0.002
18	690750	A	T	18	690750	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.37582853480714E-5	0.0
18	690751	C	A	18	690751	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.82827935381688E-5	0.002
18	690751	C	G	18	690751	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.82827935381688E-5	0.002
18	690751	C	T	18	690751	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.82827935381688E-5	0.002
18	690752	A	C	18	690752	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.8057869992506E-5	0.004
18	690752	A	G	18	690752	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.8057869992506E-5	0.004
18	690752	A	T	18	690752	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.78929785447708E-5	0.004
18	690753	C	A	18	690753	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.80283194928756E-5	0.0
18	690753	C	G	18	690753	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.80283194928756E-5	0.0
18	690753	C	T	18	690753	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.80283194928756E-5	0.0
18	690754	A	C	18	690754	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.25896182624293E-5	0.0
18	690754	A	G	18	690754	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.25896182624293E-5	0.0
18	690754	A	T	18	690754	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.54404724015672E-5	0.0
18	690755	C	A	18	690755	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.02476850624347E-5	0.032
18	690755	C	G	18	690755	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.02476850624347E-5	0.032
18	690755	C	T	18	690755	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.02476850624347E-5	0.032
18	690756	A	C	18	690756	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.11657407965104E-4	0.004
18	690756	A	G	18	690756	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.11657407965104E-4	0.004
18	690756	A	T	18	690756	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.11657407965104E-4	0.006
18	690757	C	A	18	690757	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.89210916601576E-5	0.004
18	690757	C	G	18	690757	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.89210916601576E-5	0.0
18	690757	C	T	18	690757	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.7106675465155E-5	0.0
18	691060	C	A	18	691060	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.82185484787659E-5	0.0
18	691060	C	G	18	691060	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.08701959700639E-5	0.0
18	691060	C	T	18	691060	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.82185484787659E-5	0.0
18	691061	A	C	18	691061	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.6078378219293E-4	0.0
18	691061	A	G	18	691061	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.76218946994718E-4	0.002
18	691061	A	T	18	691061	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.05042895569139E-4	0.004
18	691062	A	C	18	691062	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.578653465488343	0.508
18	691062	A	G	18	691062	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.150426646048309	0.3
18	691062	A	T	18	691062	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.970429854077395	0.596
18	691063	C	A	18	691063	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999918547216769	0.958
18	691063	C	G	18	691063	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999926362564971	0.954
18	691063	C	T	18	691063	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999934876554954	0.956
18	691064	C	A	18	691064	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00151453217266792	0.172
18	691064	C	G	18	691064	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.92938122106688E-4	0.116
18	691064	C	T	18	691064	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.32019082709344E-4	0.188
18	691065	C	A	18	691065	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00128483531673533	0.084
18	691065	C	G	18	691065	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00303657036938073	0.136
18	691065	C	T	18	691065	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.5997267570481E-5	0.068
18	691066	A	C	18	691066	y	y	splicing	ENOSF1(NM_001126123:exon7:c.289+2T>G;NM_017512:exon8:c.535+2T>G;NM_202758:exon8:c.598+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.289+2T>G;ENST00000251101:exon8:c.535+2T>G;ENST00000340116:exon8:c.598+2T>G;ENST00000585128:exon7:c.355+2T>G;ENST00000584453:exon7:c.462+2T>G;ENST00000583771:exon6:c.229+2T>G)	.	.	0.999972155025474	0.872
18	691066	A	G	18	691066	y	y	splicing	ENOSF1(NM_001126123:exon7:c.289+2T>C;NM_017512:exon8:c.535+2T>C;NM_202758:exon8:c.598+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.289+2T>C;ENST00000251101:exon8:c.535+2T>C;ENST00000340116:exon8:c.598+2T>C;ENST00000585128:exon7:c.355+2T>C;ENST00000584453:exon7:c.462+2T>C;ENST00000583771:exon6:c.229+2T>C)	.	.	0.999778102150765	0.82
18	691066	A	T	18	691066	y	y	splicing	ENOSF1(NM_001126123:exon7:c.289+2T>A;NM_017512:exon8:c.535+2T>A;NM_202758:exon8:c.598+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.289+2T>A;ENST00000251101:exon8:c.535+2T>A;ENST00000340116:exon8:c.598+2T>A;ENST00000585128:exon7:c.355+2T>A;ENST00000584453:exon7:c.462+2T>A;ENST00000583771:exon6:c.229+2T>A)	.	.	0.999982151912279	0.908
18	691067	C	A	18	691067	y	y	splicing	ENOSF1(NM_001126123:exon7:c.289+1G>T;NM_017512:exon8:c.535+1G>T;NM_202758:exon8:c.598+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.289+1G>T;ENST00000251101:exon8:c.535+1G>T;ENST00000340116:exon8:c.598+1G>T;ENST00000585128:exon7:c.355+1G>T;ENST00000584453:exon7:c.462+1G>T;ENST00000583771:exon6:c.229+1G>T)	.	.	0.999955485601963	0.916
18	691067	C	G	18	691067	y	y	splicing	ENOSF1(NM_001126123:exon7:c.289+1G>C;NM_017512:exon8:c.535+1G>C;NM_202758:exon8:c.598+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.289+1G>C;ENST00000251101:exon8:c.535+1G>C;ENST00000340116:exon8:c.598+1G>C;ENST00000585128:exon7:c.355+1G>C;ENST00000584453:exon7:c.462+1G>C;ENST00000583771:exon6:c.229+1G>C)	.	.	0.999955485601963	0.914
18	691067	C	T	18	691067	y	y	splicing	ENOSF1(NM_001126123:exon7:c.289+1G>A;NM_017512:exon8:c.535+1G>A;NM_202758:exon8:c.598+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.289+1G>A;ENST00000251101:exon8:c.535+1G>A;ENST00000340116:exon8:c.598+1G>A;ENST00000585128:exon7:c.355+1G>A;ENST00000584453:exon7:c.462+1G>A;ENST00000583771:exon6:c.229+1G>A)	.	.	0.999925439713521	0.91
18	691068	C	A	18	691068	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon7:c.G535T:p.E179X;ENOSF1:NM_001126123:exon6:c.G289T:p.E97X;ENOSF1:NM_202758:exon7:c.G598T:p.E200X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000583771:exon5:c.G229T:p.E77X;ENSG00000132199:ENST00000251101:exon7:c.G535T:p.E179X;ENSG00000132199:ENST00000383578:exon6:c.G289T:p.E97X;ENSG00000132199:ENST00000340116:exon7:c.G598T:p.E200X;	0.999985922780091	0.994
18	691068	C	G	18	691068	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.G535C:p.E179Q;ENOSF1:NM_001126123:exon6:c.G289C:p.E97Q;ENOSF1:NM_202758:exon7:c.G598C:p.E200Q;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.G462C:p.E154D;ENSG00000132199:ENST00000583771:exon5:c.G229C:p.E77Q;ENSG00000132199:ENST00000251101:exon7:c.G535C:p.E179Q;ENSG00000132199:ENST00000383578:exon6:c.G289C:p.E97Q;ENSG00000132199:ENST00000340116:exon7:c.G598C:p.E200Q;	0.999966241858843	0.864
18	691068	C	T	18	691068	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.G535A:p.E179K;ENOSF1:NM_001126123:exon6:c.G289A:p.E97K;ENOSF1:NM_202758:exon7:c.G598A:p.E200K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon5:c.G229A:p.E77K;ENSG00000132199:ENST00000251101:exon7:c.G535A:p.E179K;ENSG00000132199:ENST00000383578:exon6:c.G289A:p.E97K;ENSG00000132199:ENST00000340116:exon7:c.G598A:p.E200K;	0.999742291813165	0.996
18	691069	T	A	18	691069	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.A534T:p.R178S;ENOSF1:NM_001126123:exon6:c.A288T:p.R96S;ENOSF1:NM_202758:exon7:c.A597T:p.R199S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.A461T:p.E154V;ENSG00000132199:ENST00000583771:exon5:c.A228T:p.R76S;ENSG00000132199:ENST00000251101:exon7:c.A534T:p.R178S;ENSG00000132199:ENST00000383578:exon6:c.A288T:p.R96S;ENSG00000132199:ENST00000340116:exon7:c.A597T:p.R199S;	0.999915879552067	0.998
18	691069	T	C	18	691069	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon7:c.A534G:p.R178R;ENOSF1:NM_001126123:exon6:c.A288G:p.R96R;ENOSF1:NM_202758:exon7:c.A597G:p.R199R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.A461G:p.E154G;	0.983877360872574	0.764
18	691069	T	G	18	691069	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.A534C:p.R178S;ENOSF1:NM_001126123:exon6:c.A288C:p.R96S;ENOSF1:NM_202758:exon7:c.A597C:p.R199S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.A461C:p.E154A;ENSG00000132199:ENST00000583771:exon5:c.A228C:p.R76S;ENSG00000132199:ENST00000251101:exon7:c.A534C:p.R178S;ENSG00000132199:ENST00000383578:exon6:c.A288C:p.R96S;ENSG00000132199:ENST00000340116:exon7:c.A597C:p.R199S;	0.999576438821102	0.98
18	691070	C	A	18	691070	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.G533T:p.R178I;ENOSF1:NM_001126123:exon6:c.G287T:p.R96I;ENOSF1:NM_202758:exon7:c.G596T:p.R199I;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000584453:exon6:c.G460T:p.E154X;	0.958290061612222	0.702
18	691070	C	G	18	691070	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.G533C:p.R178T;ENOSF1:NM_001126123:exon6:c.G287C:p.R96T;ENOSF1:NM_202758:exon7:c.G596C:p.R199T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.G460C:p.E154Q;ENSG00000132199:ENST00000583771:exon5:c.G227C:p.R76T;ENSG00000132199:ENST00000251101:exon7:c.G533C:p.R178T;ENSG00000132199:ENST00000383578:exon6:c.G287C:p.R96T;ENSG00000132199:ENST00000340116:exon7:c.G596C:p.R199T;	0.90605877901458	0.706
18	691070	C	T	18	691070	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.G533A:p.R178K;ENOSF1:NM_001126123:exon6:c.G287A:p.R96K;ENOSF1:NM_202758:exon7:c.G596A:p.R199K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.G460A:p.E154K;ENSG00000132199:ENST00000583771:exon5:c.G227A:p.R76K;ENSG00000132199:ENST00000251101:exon7:c.G533A:p.R178K;ENSG00000132199:ENST00000383578:exon6:c.G287A:p.R96K;ENSG00000132199:ENST00000340116:exon7:c.G596A:p.R199K;	0.920391154270111	0.76
18	691105	T	A	18	691105	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.A498T:p.E166D;ENOSF1:NM_001126123:exon6:c.A252T:p.E84D;ENOSF1:NM_202758:exon7:c.A561T:p.E187D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.A425T:p.K142I;ENSG00000132199:ENST00000583771:exon5:c.A192T:p.E64D;ENSG00000132199:ENST00000251101:exon7:c.A498T:p.E166D;ENSG00000132199:ENST00000383578:exon6:c.A252T:p.E84D;ENSG00000132199:ENST00000340116:exon7:c.A561T:p.E187D;	7.35309979185033E-4	0.002
18	691105	T	C	18	691105	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon7:c.A498G:p.E166E;ENOSF1:NM_001126123:exon6:c.A252G:p.E84E;ENOSF1:NM_202758:exon7:c.A561G:p.E187E;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.A425G:p.K142R;	0.00103357211543095	0.04
18	691105	T	G	18	691105	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.A498C:p.E166D;ENOSF1:NM_001126123:exon6:c.A252C:p.E84D;ENOSF1:NM_202758:exon7:c.A561C:p.E187D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.A425C:p.K142T;ENSG00000132199:ENST00000583771:exon5:c.A192C:p.E64D;ENSG00000132199:ENST00000251101:exon7:c.A498C:p.E166D;ENSG00000132199:ENST00000383578:exon6:c.A252C:p.E84D;ENSG00000132199:ENST00000340116:exon7:c.A561C:p.E187D;	9.85652725386109E-4	0.016
18	691106	T	A	18	691106	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.A497T:p.E166V;ENOSF1:NM_001126123:exon6:c.A251T:p.E84V;ENOSF1:NM_202758:exon7:c.A560T:p.E187V;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000584453:exon6:c.A424T:p.K142X;	0.014151162499884	0.142
18	691106	T	C	18	691106	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.A497G:p.E166G;ENOSF1:NM_001126123:exon6:c.A251G:p.E84G;ENOSF1:NM_202758:exon7:c.A560G:p.E187G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.A424G:p.K142E;ENSG00000132199:ENST00000583771:exon5:c.A191G:p.E64G;ENSG00000132199:ENST00000251101:exon7:c.A497G:p.E166G;ENSG00000132199:ENST00000383578:exon6:c.A251G:p.E84G;ENSG00000132199:ENST00000340116:exon7:c.A560G:p.E187G;	1.78214319788873E-4	0.002
18	691106	T	G	18	691106	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon7:c.A497C:p.E166A;ENOSF1:NM_001126123:exon6:c.A251C:p.E84A;ENOSF1:NM_202758:exon7:c.A560C:p.E187A;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon6:c.A424C:p.K142Q;ENSG00000132199:ENST00000583771:exon5:c.A191C:p.E64A;ENSG00000132199:ENST00000251101:exon7:c.A497C:p.E166A;ENSG00000132199:ENST00000383578:exon6:c.A251C:p.E84A;ENSG00000132199:ENST00000340116:exon7:c.A560C:p.E187A;	2.54582605341525E-4	0.01
18	691107	C	A	18	691107	y	y	splicing	ENOSF1(NM_001126123:exon7:c.251-1G>T;NM_017512:exon8:c.497-1G>T;NM_202758:exon8:c.560-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.251-1G>T;ENST00000251101:exon8:c.497-1G>T;ENST00000340116:exon8:c.560-1G>T;ENST00000585128:exon7:c.317-1G>T;ENST00000584453:exon7:c.424-1G>T;ENST00000583771:exon6:c.191-1G>T)	.	.	0.999933757597683	0.946
18	691107	C	G	18	691107	y	y	splicing	ENOSF1(NM_001126123:exon7:c.251-1G>C;NM_017512:exon8:c.497-1G>C;NM_202758:exon8:c.560-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.251-1G>C;ENST00000251101:exon8:c.497-1G>C;ENST00000340116:exon8:c.560-1G>C;ENST00000585128:exon7:c.317-1G>C;ENST00000584453:exon7:c.424-1G>C;ENST00000583771:exon6:c.191-1G>C)	.	.	0.999933757597683	0.94
18	691107	C	T	18	691107	y	y	splicing	ENOSF1(NM_001126123:exon7:c.251-1G>A;NM_017512:exon8:c.497-1G>A;NM_202758:exon8:c.560-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.251-1G>A;ENST00000251101:exon8:c.497-1G>A;ENST00000340116:exon8:c.560-1G>A;ENST00000585128:exon7:c.317-1G>A;ENST00000584453:exon7:c.424-1G>A;ENST00000583771:exon6:c.191-1G>A)	.	.	0.999933757597683	0.948
18	691108	T	A	18	691108	y	y	splicing	ENOSF1(NM_001126123:exon7:c.251-2A>T;NM_017512:exon8:c.497-2A>T;NM_202758:exon8:c.560-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.251-2A>T;ENST00000251101:exon8:c.497-2A>T;ENST00000340116:exon8:c.560-2A>T;ENST00000585128:exon7:c.317-2A>T;ENST00000584453:exon7:c.424-2A>T;ENST00000583771:exon6:c.191-2A>T)	.	.	0.999962958601995	0.828
18	691108	T	C	18	691108	y	y	splicing	ENOSF1(NM_001126123:exon7:c.251-2A>G;NM_017512:exon8:c.497-2A>G;NM_202758:exon8:c.560-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.251-2A>G;ENST00000251101:exon8:c.497-2A>G;ENST00000340116:exon8:c.560-2A>G;ENST00000585128:exon7:c.317-2A>G;ENST00000584453:exon7:c.424-2A>G;ENST00000583771:exon6:c.191-2A>G)	.	.	0.999962958601995	0.794
18	691108	T	G	18	691108	y	y	splicing	ENOSF1(NM_001126123:exon7:c.251-2A>C;NM_017512:exon8:c.497-2A>C;NM_202758:exon8:c.560-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon7:c.251-2A>C;ENST00000251101:exon8:c.497-2A>C;ENST00000340116:exon8:c.560-2A>C;ENST00000585128:exon7:c.317-2A>C;ENST00000584453:exon7:c.424-2A>C;ENST00000583771:exon6:c.191-2A>C)	.	.	0.999962958601995	0.796
18	691109	G	A	18	691109	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00874397438436115	0.182
18	691109	G	C	18	691109	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999619086567713	0.866
18	691109	G	T	18	691109	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99211895058259	0.634
18	691110	G	A	18	691110	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.01630179046432E-5	0.0
18	691110	G	C	18	691110	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.34167464619356E-5	0.004
18	691110	G	T	18	691110	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.09129257184079E-5	0.002
18	691111	A	C	18	691111	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.012330042239558	0.132
18	691111	A	G	18	691111	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.57385373280161E-4	0.006
18	691111	A	T	18	691111	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0111174855840913	0.088
18	691112	A	C	18	691112	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0751121313722432	0.164
18	691112	A	G	18	691112	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.76792732012208E-4	0.004
18	691112	A	T	18	691112	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0128331368780656	0.078
18	691113	G	A	18	691113	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.23894473241794E-5	0.0
18	691113	G	C	18	691113	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.25488029049855E-4	0.028
18	691113	G	T	18	691113	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.62880974379795E-4	0.022
18	691114	A	C	18	691114	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.33828970770602E-4	0.176
18	691114	A	G	18	691114	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.3409404750442E-5	0.032
18	691114	A	T	18	691114	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.31656709980479E-4	0.19
18	691115	A	C	18	691115	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.19250832747573E-4	0.07
18	691115	A	G	18	691115	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.47157600049518E-4	0.002
18	691115	A	T	18	691115	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.27485636518889E-4	0.082
18	691116	A	C	18	691116	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999827855708925	0.984
18	691116	A	G	18	691116	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.95910164994272E-4	0.002
18	691116	A	T	18	691116	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00493278429869604	0.084
18	691117	T	A	18	691117	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.26632476418447E-4	0.066
18	691117	T	C	18	691117	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.03119395272469E-5	0.004
18	691117	T	G	18	691117	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.4900972049483E-5	0.004
18	691118	A	C	18	691118	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.79487402424737E-5	0.062
18	691118	A	G	18	691118	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.43924022373699E-5	0.0
18	691118	A	T	18	691118	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.2293658466507E-4	0.064
18	691196	A	C	18	691196	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.20815411554053E-5	0.0
18	691196	A	G	18	691196	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.70337218186484E-5	0.0
18	691196	A	T	18	691196	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.49324761033339E-5	0.0
18	691197	A	C	18	691197	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.81174551318903E-6	0.0
18	691197	A	G	18	691197	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.6094151630192E-6	0.0
18	691197	A	T	18	691197	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.28976177863328E-6	0.0
18	691198	A	C	18	691198	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00712656738107498	0.22
18	691198	A	G	18	691198	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0117427130369194	0.258
18	691198	A	T	18	691198	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0875666243556498	0.252
18	691199	C	A	18	691199	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.997886304440172	0.882
18	691199	C	G	18	691199	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.996144010927481	0.944
18	691199	C	T	18	691199	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.988376687496132	0.932
18	691200	T	A	18	691200	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.936079935600505	0.636
18	691200	T	C	18	691200	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.983062777403004	0.692
18	691200	T	G	18	691200	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.539983114548645	0.51
18	691201	C	A	18	691201	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.670650722688288	0.524
18	691201	C	G	18	691201	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.282288259765995	0.468
18	691201	C	T	18	691201	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.16498781150194E-4	0.0
18	691202	A	C	18	691202	y	y	splicing	ENOSF1(NM_001126123:exon6:c.250+2T>G;NM_017512:exon7:c.496+2T>G;NM_202758:exon7:c.559+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.250+2T>G;ENST00000251101:exon7:c.496+2T>G;ENST00000340116:exon7:c.559+2T>G;ENST00000585128:exon6:c.316+2T>G;ENST00000583771:exon5:c.190+2T>G)	.	.	0.999978156327223	0.932
18	691202	A	G	18	691202	y	y	splicing	ENOSF1(NM_001126123:exon6:c.250+2T>C;NM_017512:exon7:c.496+2T>C;NM_202758:exon7:c.559+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.250+2T>C;ENST00000251101:exon7:c.496+2T>C;ENST00000340116:exon7:c.559+2T>C;ENST00000585128:exon6:c.316+2T>C;ENST00000583771:exon5:c.190+2T>C)	.	.	0.999887500130296	0.898
18	691202	A	T	18	691202	y	y	splicing	ENOSF1(NM_001126123:exon6:c.250+2T>A;NM_017512:exon7:c.496+2T>A;NM_202758:exon7:c.559+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.250+2T>A;ENST00000251101:exon7:c.496+2T>A;ENST00000340116:exon7:c.559+2T>A;ENST00000585128:exon6:c.316+2T>A;ENST00000583771:exon5:c.190+2T>A)	.	.	0.999966514958823	0.934
18	691203	C	A	18	691203	y	y	splicing	ENOSF1(NM_001126123:exon6:c.250+1G>T;NM_017512:exon7:c.496+1G>T;NM_202758:exon7:c.559+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.250+1G>T;ENST00000251101:exon7:c.496+1G>T;ENST00000340116:exon7:c.559+1G>T;ENST00000585128:exon6:c.316+1G>T;ENST00000583771:exon5:c.190+1G>T)	.	.	0.999916487880886	0.95
18	691203	C	G	18	691203	y	y	splicing	ENOSF1(NM_001126123:exon6:c.250+1G>C;NM_017512:exon7:c.496+1G>C;NM_202758:exon7:c.559+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.250+1G>C;ENST00000251101:exon7:c.496+1G>C;ENST00000340116:exon7:c.559+1G>C;ENST00000585128:exon6:c.316+1G>C;ENST00000583771:exon5:c.190+1G>C)	.	.	0.999916487880886	0.944
18	691203	C	T	18	691203	y	y	splicing	ENOSF1(NM_001126123:exon6:c.250+1G>A;NM_017512:exon7:c.496+1G>A;NM_202758:exon7:c.559+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.250+1G>A;ENST00000251101:exon7:c.496+1G>A;ENST00000340116:exon7:c.559+1G>A;ENST00000585128:exon6:c.316+1G>A;ENST00000583771:exon5:c.190+1G>A)	.	.	0.999916487880886	0.952
18	691204	C	A	18	691204	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon6:c.G496T:p.E166X;ENOSF1:NM_001126123:exon5:c.G250T:p.E84X;ENOSF1:NM_202758:exon6:c.G559T:p.E187X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000583771:exon4:c.G190T:p.E64X;ENSG00000132199:ENST00000251101:exon6:c.G496T:p.E166X;ENSG00000132199:ENST00000383578:exon5:c.G250T:p.E84X;ENSG00000132199:ENST00000340116:exon6:c.G559T:p.E187X;	0.99982552548088	0.984
18	691204	C	G	18	691204	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.G496C:p.E166Q;ENOSF1:NM_001126123:exon5:c.G250C:p.E84Q;ENOSF1:NM_202758:exon6:c.G559C:p.E187Q;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.G190C:p.E64Q;ENSG00000132199:ENST00000251101:exon6:c.G496C:p.E166Q;ENSG00000132199:ENST00000383578:exon5:c.G250C:p.E84Q;ENSG00000132199:ENST00000340116:exon6:c.G559C:p.E187Q;	0.986259323319284	0.794
18	691204	C	T	18	691204	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.G496A:p.E166K;ENOSF1:NM_001126123:exon5:c.G250A:p.E84K;ENOSF1:NM_202758:exon6:c.G559A:p.E187K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.G190A:p.E64K;ENSG00000132199:ENST00000251101:exon6:c.G496A:p.E166K;ENSG00000132199:ENST00000383578:exon5:c.G250A:p.E84K;ENSG00000132199:ENST00000340116:exon6:c.G559A:p.E187K;	0.999404586817652	0.978
18	691205	T	A	18	691205	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon6:c.A495T:p.L165L;ENOSF1:NM_001126123:exon5:c.A249T:p.L83L;ENOSF1:NM_202758:exon6:c.A558T:p.L186L;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.A189T:p.L63L;ENSG00000132199:ENST00000251101:exon6:c.A495T:p.L165L;ENSG00000132199:ENST00000383578:exon5:c.A249T:p.L83L;ENSG00000132199:ENST00000340116:exon6:c.A558T:p.L186L;	0.00825144576557925	0.364
18	691205	T	C	18	691205	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon6:c.A495G:p.L165L;ENOSF1:NM_001126123:exon5:c.A249G:p.L83L;ENOSF1:NM_202758:exon6:c.A558G:p.L186L;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.A189G:p.L63L;ENSG00000132199:ENST00000251101:exon6:c.A495G:p.L165L;ENSG00000132199:ENST00000383578:exon5:c.A249G:p.L83L;ENSG00000132199:ENST00000340116:exon6:c.A558G:p.L186L;	0.00713490753112966	0.33
18	691205	T	G	18	691205	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon6:c.A495C:p.L165L;ENOSF1:NM_001126123:exon5:c.A249C:p.L83L;ENOSF1:NM_202758:exon6:c.A558C:p.L186L;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.A189C:p.L63L;ENSG00000132199:ENST00000251101:exon6:c.A495C:p.L165L;ENSG00000132199:ENST00000383578:exon5:c.A249C:p.L83L;ENSG00000132199:ENST00000340116:exon6:c.A558C:p.L186L;	0.00395142095677442	0.378
18	691206	A	C	18	691206	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.T494G:p.L165R;ENOSF1:NM_001126123:exon5:c.T248G:p.L83R;ENOSF1:NM_202758:exon6:c.T557G:p.L186R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.T188G:p.L63R;ENSG00000132199:ENST00000251101:exon6:c.T494G:p.L165R;ENSG00000132199:ENST00000383578:exon5:c.T248G:p.L83R;ENSG00000132199:ENST00000340116:exon6:c.T557G:p.L186R;	7.85484020997959E-5	0.008
18	691206	A	G	18	691206	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.T494C:p.L165P;ENOSF1:NM_001126123:exon5:c.T248C:p.L83P;ENOSF1:NM_202758:exon6:c.T557C:p.L186P;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.T188C:p.L63P;ENSG00000132199:ENST00000251101:exon6:c.T494C:p.L165P;ENSG00000132199:ENST00000383578:exon5:c.T248C:p.L83P;ENSG00000132199:ENST00000340116:exon6:c.T557C:p.L186P;	2.82380947116986E-5	0.014
18	691206	A	T	18	691206	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.T494A:p.L165Q;ENOSF1:NM_001126123:exon5:c.T248A:p.L83Q;ENOSF1:NM_202758:exon6:c.T557A:p.L186Q;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.T188A:p.L63Q;ENSG00000132199:ENST00000251101:exon6:c.T494A:p.L165Q;ENSG00000132199:ENST00000383578:exon5:c.T248A:p.L83Q;ENSG00000132199:ENST00000340116:exon6:c.T557A:p.L186Q;	6.44745066803981E-5	0.118
18	691275	T	A	18	691275	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.A425T:p.D142V;ENOSF1:NM_001126123:exon5:c.A179T:p.D60V;ENOSF1:NM_202758:exon6:c.A488T:p.D163V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.A119T:p.D40V;ENSG00000132199:ENST00000251101:exon6:c.A425T:p.D142V;ENSG00000132199:ENST00000383578:exon5:c.A179T:p.D60V;ENSG00000132199:ENST00000340116:exon6:c.A488T:p.D163V;	0.00236680170967196	0.056
18	691275	T	C	18	691275	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.A425G:p.D142G;ENOSF1:NM_001126123:exon5:c.A179G:p.D60G;ENOSF1:NM_202758:exon6:c.A488G:p.D163G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.A119G:p.D40G;ENSG00000132199:ENST00000251101:exon6:c.A425G:p.D142G;ENSG00000132199:ENST00000383578:exon5:c.A179G:p.D60G;ENSG00000132199:ENST00000340116:exon6:c.A488G:p.D163G;	0.00591566438586782	0.032
18	691275	T	G	18	691275	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.A425C:p.D142A;ENOSF1:NM_001126123:exon5:c.A179C:p.D60A;ENOSF1:NM_202758:exon6:c.A488C:p.D163A;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.A119C:p.D40A;ENSG00000132199:ENST00000251101:exon6:c.A425C:p.D142A;ENSG00000132199:ENST00000383578:exon5:c.A179C:p.D60A;ENSG00000132199:ENST00000340116:exon6:c.A488C:p.D163A;	0.00597824394408389	0.196
18	691276	C	A	18	691276	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.G424T:p.D142Y;ENOSF1:NM_001126123:exon5:c.G178T:p.D60Y;ENOSF1:NM_202758:exon6:c.G487T:p.D163Y;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.G118T:p.D40Y;ENSG00000132199:ENST00000251101:exon6:c.G424T:p.D142Y;ENSG00000132199:ENST00000383578:exon5:c.G178T:p.D60Y;ENSG00000132199:ENST00000340116:exon6:c.G487T:p.D163Y;	0.661325170438589	0.746
18	691276	C	G	18	691276	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.G424C:p.D142H;ENOSF1:NM_001126123:exon5:c.G178C:p.D60H;ENOSF1:NM_202758:exon6:c.G487C:p.D163H;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.G118C:p.D40H;ENSG00000132199:ENST00000251101:exon6:c.G424C:p.D142H;ENSG00000132199:ENST00000383578:exon5:c.G178C:p.D60H;ENSG00000132199:ENST00000340116:exon6:c.G487C:p.D163H;	0.683282644013737	0.788
18	691276	C	T	18	691276	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon6:c.G424A:p.D142N;ENOSF1:NM_001126123:exon5:c.G178A:p.D60N;ENOSF1:NM_202758:exon6:c.G487A:p.D163N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000583771:exon4:c.G118A:p.D40N;ENSG00000132199:ENST00000251101:exon6:c.G424A:p.D142N;ENSG00000132199:ENST00000383578:exon5:c.G178A:p.D60N;ENSG00000132199:ENST00000340116:exon6:c.G487A:p.D163N;	0.12195871846415	0.472
18	691277	C	A	18	691277	y	y	splicing	ENOSF1(NM_001126123:exon6:c.178-1G>T;NM_017512:exon7:c.424-1G>T;NM_202758:exon7:c.487-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.178-1G>T;ENST00000251101:exon7:c.424-1G>T;ENST00000340116:exon7:c.487-1G>T;ENST00000585128:exon6:c.244-1G>T;ENST00000583771:exon5:c.118-1G>T;ENST00000539164:exon8:c.830-1G>T)	.	.	0.999949778486911	0.92
18	691277	C	G	18	691277	y	y	splicing	ENOSF1(NM_001126123:exon6:c.178-1G>C;NM_017512:exon7:c.424-1G>C;NM_202758:exon7:c.487-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.178-1G>C;ENST00000251101:exon7:c.424-1G>C;ENST00000340116:exon7:c.487-1G>C;ENST00000585128:exon6:c.244-1G>C;ENST00000583771:exon5:c.118-1G>C;ENST00000539164:exon8:c.830-1G>C)	.	.	0.999949778486911	0.92
18	691277	C	T	18	691277	y	y	splicing	ENOSF1(NM_001126123:exon6:c.178-1G>A;NM_017512:exon7:c.424-1G>A;NM_202758:exon7:c.487-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.178-1G>A;ENST00000251101:exon7:c.424-1G>A;ENST00000340116:exon7:c.487-1G>A;ENST00000585128:exon6:c.244-1G>A;ENST00000583771:exon5:c.118-1G>A;ENST00000539164:exon8:c.830-1G>A)	.	.	0.999915880790409	0.914
18	691278	T	A	18	691278	y	y	splicing	ENOSF1(NM_001126123:exon6:c.178-2A>T;NM_017512:exon7:c.424-2A>T;NM_202758:exon7:c.487-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.178-2A>T;ENST00000251101:exon7:c.424-2A>T;ENST00000340116:exon7:c.487-2A>T;ENST00000585128:exon6:c.244-2A>T;ENST00000583771:exon5:c.118-2A>T;ENST00000539164:exon8:c.830-2A>T)	.	.	0.999977724223796	0.816
18	691278	T	C	18	691278	y	y	splicing	ENOSF1(NM_001126123:exon6:c.178-2A>G;NM_017512:exon7:c.424-2A>G;NM_202758:exon7:c.487-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.178-2A>G;ENST00000251101:exon7:c.424-2A>G;ENST00000340116:exon7:c.487-2A>G;ENST00000585128:exon6:c.244-2A>G;ENST00000583771:exon5:c.118-2A>G;ENST00000539164:exon8:c.830-2A>G)	.	.	0.999977724223796	0.772
18	691278	T	G	18	691278	y	y	splicing	ENOSF1(NM_001126123:exon6:c.178-2A>C;NM_017512:exon7:c.424-2A>C;NM_202758:exon7:c.487-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon6:c.178-2A>C;ENST00000251101:exon7:c.424-2A>C;ENST00000340116:exon7:c.487-2A>C;ENST00000585128:exon6:c.244-2A>C;ENST00000583771:exon5:c.118-2A>C;ENST00000539164:exon8:c.830-2A>C)	.	.	0.999977724223796	0.772
18	691279	G	A	18	691279	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00386803778042443	0.202
18	691279	G	C	18	691279	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.993246710102475	0.63
18	691279	G	T	18	691279	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.986822019243752	0.728
18	691280	G	A	18	691280	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.77115161979738E-5	0.016
18	691280	G	C	18	691280	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.51055938235533E-5	0.112
18	691280	G	T	18	691280	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.24123255430174E-5	0.028
18	691281	C	A	18	691281	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.30497503153974E-5	0.094
18	691281	C	G	18	691281	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.30497503153974E-5	0.062
18	691281	C	T	18	691281	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.11174998274647E-5	0.11
18	691282	A	C	18	691282	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00523326517804895	0.464
18	691282	A	G	18	691282	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.28914708954376E-5	0.036
18	691282	A	T	18	691282	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999867098361059	0.98
18	691283	A	C	18	691283	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00155710761227511	0.2
18	691283	A	G	18	691283	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.38165483901548E-5	0.028
18	691283	A	T	18	691283	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00349260221929523	0.19
18	691284	C	A	18	691284	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.49811543647207E-5	0.004
18	691284	C	G	18	691284	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.49811543647207E-5	0.004
18	691284	C	T	18	691284	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.17114931247868E-4	0.022
18	691285	G	A	18	691285	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.26282657477284E-5	0.0
18	691285	G	C	18	691285	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.987846375466716	0.43
18	691285	G	T	18	691285	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.991265664365547	0.414
18	691286	T	A	18	691286	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.44173914748644E-5	0.0
18	691286	T	C	18	691286	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.16513098601344E-5	0.0
18	691286	T	G	18	691286	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.28518497629985E-5	0.0
18	691287	G	A	18	691287	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.51738370606397E-5	0.004
18	691287	G	C	18	691287	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.09141580907014E-4	0.032
18	691287	G	T	18	691287	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.74460496454207E-4	0.09
18	691288	A	C	18	691288	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.773464559877307	0.548
18	691288	A	G	18	691288	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0115292310866868	0.218
18	691288	A	T	18	691288	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.971417653776197	0.594
18	692762	A	C	18	692762	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.3994564522384E-5	0.014
18	692762	A	G	18	692762	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.3994564522384E-5	0.014
18	692762	A	T	18	692762	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.3994564522384E-5	0.014
18	692763	C	A	18	692763	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.14301101535901E-5	0.0
18	692763	C	G	18	692763	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.14301101535901E-5	0.0
18	692763	C	T	18	692763	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.47039489069415E-5	0.0
18	692764	G	A	18	692764	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.88268727426181E-4	0.022
18	692764	G	C	18	692764	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.88268727426181E-4	0.022
18	692764	G	T	18	692764	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.88268727426181E-4	0.022
18	692765	C	A	18	692765	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.84677156046253E-5	0.0
18	692765	C	G	18	692765	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.48119269442226E-5	0.01
18	692765	C	T	18	692765	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.84677156046253E-5	0.0
18	692766	C	A	18	692766	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.31929338280547E-5	0.002
18	692766	C	G	18	692766	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.07620641825897E-5	0.0
18	692766	C	T	18	692766	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.89925739660516E-5	0.004
18	692767	A	C	18	692767	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.6857887130806E-5	0.004
18	692767	A	G	18	692767	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.6857887130806E-5	0.004
18	692767	A	T	18	692767	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.6857887130806E-5	0.004
18	692768	A	C	18	692768	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.829+2T>G)	.	.	3.30338091304305E-5	0.0
18	692768	A	G	18	692768	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.829+2T>C)	.	.	3.30338091304305E-5	0.0
18	692768	A	T	18	692768	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.829+2T>A)	.	.	5.10250552304391E-5	0.002
18	692769	C	A	18	692769	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.829+1G>T)	.	.	1.46004206284423E-5	0.0
18	692769	C	G	18	692769	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.829+1G>C)	.	.	1.46004206284423E-5	0.0
18	692769	C	T	18	692769	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.829+1G>A)	.	.	1.46004206284423E-5	0.0
18	692770	C	A	18	692770	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	1.52257487934687E-4	0.028
18	692770	C	G	18	692770	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	1.52257487934687E-4	0.026
18	692770	C	T	18	692770	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	1.52257487934687E-4	0.022
18	692771	T	A	18	692771	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	5.15941453541388E-5	0.002
18	692771	T	C	18	692771	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	5.15941453541388E-5	0.012
18	692771	T	G	18	692771	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	5.15941453541388E-5	0.012
18	692772	T	A	18	692772	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	3.80109675654916E-5	0.0
18	692772	T	C	18	692772	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	5.08291490468438E-5	0.034
18	692772	T	G	18	692772	n	y	intronic	ENOSF1	.	.	UTR3	ENSG00000132199	.	.	5.08291490468438E-5	0.096
18	693174	C	A	18	693174	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000539164:exon6:c.G425T:p.G142V;	4.54864143880111E-4	0.002
18	693174	C	G	18	693174	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000539164:exon6:c.G425C:p.G142A;	6.58928398576996E-5	0.062
18	693174	C	T	18	693174	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000539164:exon6:c.G425A:p.G142E;	9.71819796559124E-4	0.006
18	693175	C	A	18	693175	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000539164:exon6:c.G424T:p.G142W;	9.16811292047004E-4	0.004
18	693175	C	G	18	693175	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000539164:exon6:c.G424C:p.G142R;	9.71819796559124E-4	0.006
18	693175	C	T	18	693175	n	y	intronic	ENOSF1	.	.	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000539164:exon6:c.G424A:p.G142R;	6.81050447486223E-4	0.008
18	693176	C	A	18	693176	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.424-1G>T)	.	.	6.13798544938766E-5	0.022
18	693176	C	G	18	693176	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.424-1G>C)	.	.	5.38697678884466E-5	0.016
18	693176	C	T	18	693176	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.424-1G>A)	.	.	6.13798544938766E-5	0.02
18	693177	T	A	18	693177	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.424-2A>T)	.	.	2.41069364790736E-5	0.006
18	693177	T	C	18	693177	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.424-2A>G)	.	.	2.41069364790736E-5	0.006
18	693177	T	G	18	693177	n	y	intronic	ENOSF1	.	.	splicing	ENSG00000132199(ENST00000539164:exon7:c.424-2A>C)	.	.	2.41069364790736E-5	0.008
18	693178	G	A	18	693178	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.68952365742707E-5	0.006
18	693178	G	C	18	693178	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.68952365742707E-5	0.002
18	693178	G	T	18	693178	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.68952365742707E-5	0.004
18	693179	C	A	18	693179	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.08692400722682E-5	0.0
18	693179	C	G	18	693179	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.08692400722682E-5	0.004
18	693179	C	T	18	693179	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.08692400722682E-5	0.0
18	693180	T	A	18	693180	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.15941453541388E-5	0.006
18	693180	T	C	18	693180	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.89925739660516E-5	0.01
18	693180	T	G	18	693180	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.89925739660516E-5	0.01
18	693181	A	C	18	693181	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.80274866394675E-5	0.0
18	693181	A	G	18	693181	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.80274866394675E-5	0.0
18	693181	A	T	18	693181	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.27663100932972E-5	0.0
18	693182	T	A	18	693182	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.78864525412067E-5	0.002
18	693182	T	C	18	693182	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.78864525412067E-5	0.002
18	693182	T	G	18	693182	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.78864525412067E-5	0.002
18	693183	G	A	18	693183	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.78864525412067E-5	0.0
18	693183	G	C	18	693183	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.45277156108894E-5	0.0
18	693183	G	T	18	693183	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.78864525412067E-5	0.004
18	693184	A	C	18	693184	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.96653435898131E-5	0.0
18	693184	A	G	18	693184	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.96653435898131E-5	0.0
18	693184	A	T	18	693184	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.96653435898131E-5	0.0
18	693185	A	C	18	693185	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.30961459151587E-4	0.028
18	693185	A	G	18	693185	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.30961459151587E-4	0.028
18	693185	A	T	18	693185	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.81235103573134E-4	0.028
18	693186	A	C	18	693186	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.49702646665041E-5	0.004
18	693186	A	G	18	693186	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.49702646665041E-5	0.004
18	693186	A	T	18	693186	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.49702646665041E-5	0.006
18	693187	A	C	18	693187	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.15941453541388E-5	0.004
18	693187	A	G	18	693187	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.15941453541388E-5	0.004
18	693187	A	T	18	693187	n	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.15941453541388E-5	0.004
18	693874	C	A	18	693874	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.46093747432302E-5	0.002
18	693874	C	G	18	693874	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.46093747432302E-5	0.002
18	693874	C	T	18	693874	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.94716658651354E-5	0.006
18	693875	T	A	18	693875	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00116209913038412	0.0
18	693875	T	C	18	693875	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.45250723668677E-4	0.0
18	693875	T	G	18	693875	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00248898335303955	0.0
18	693876	A	C	18	693876	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.06168695234985	0.416
18	693876	A	G	18	693876	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.2196228084835	0.386
18	693876	A	T	18	693876	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.682520301582943	0.518
18	693877	C	A	18	693877	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999734472596691	0.886
18	693877	C	G	18	693877	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999936083924395	0.982
18	693877	C	T	18	693877	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999608734397824	0.974
18	693878	T	A	18	693878	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.978035181850009	0.56
18	693878	T	C	18	693878	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.968546024816615	0.674
18	693878	T	G	18	693878	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.577234576357421	0.392
18	693879	C	A	18	693879	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.136336724697517	0.35
18	693879	C	G	18	693879	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.53163932005001	0.528
18	693879	C	T	18	693879	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.63493537788873E-5	0.002
18	693880	A	C	18	693880	y	y	splicing	ENOSF1(NM_001126123:exon5:c.177+2T>G;NM_017512:exon6:c.423+2T>G;NM_202758:exon6:c.486+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.177+2T>G;ENST00000251101:exon6:c.423+2T>G;ENST00000581475:exon6:c.423+2T>G;ENST00000340116:exon6:c.486+2T>G;ENST00000580982:exon5:c.307+2T>G;ENST00000585128:exon5:c.243+2T>G;ENST00000584453:exon6:c.423+2T>G;ENST00000583771:exon4:c.117+2T>G;ENST00000539164:exon6:c.423+2T>G)	.	.	0.999988247793601	0.926
18	693880	A	G	18	693880	y	y	splicing	ENOSF1(NM_001126123:exon5:c.177+2T>C;NM_017512:exon6:c.423+2T>C;NM_202758:exon6:c.486+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.177+2T>C;ENST00000251101:exon6:c.423+2T>C;ENST00000581475:exon6:c.423+2T>C;ENST00000340116:exon6:c.486+2T>C;ENST00000580982:exon5:c.307+2T>C;ENST00000585128:exon5:c.243+2T>C;ENST00000584453:exon6:c.423+2T>C;ENST00000583771:exon4:c.117+2T>C;ENST00000539164:exon6:c.423+2T>C)	.	.	0.999943260809542	0.868
18	693880	A	T	18	693880	y	y	splicing	ENOSF1(NM_001126123:exon5:c.177+2T>A;NM_017512:exon6:c.423+2T>A;NM_202758:exon6:c.486+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.177+2T>A;ENST00000251101:exon6:c.423+2T>A;ENST00000581475:exon6:c.423+2T>A;ENST00000340116:exon6:c.486+2T>A;ENST00000580982:exon5:c.307+2T>A;ENST00000585128:exon5:c.243+2T>A;ENST00000584453:exon6:c.423+2T>A;ENST00000583771:exon4:c.117+2T>A;ENST00000539164:exon6:c.423+2T>A)	.	.	0.999988247793601	0.926
18	693881	C	A	18	693881	y	y	splicing	ENOSF1(NM_001126123:exon5:c.177+1G>T;NM_017512:exon6:c.423+1G>T;NM_202758:exon6:c.486+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.177+1G>T;ENST00000251101:exon6:c.423+1G>T;ENST00000581475:exon6:c.423+1G>T;ENST00000340116:exon6:c.486+1G>T;ENST00000580982:exon5:c.307+1G>T;ENST00000585128:exon5:c.243+1G>T;ENST00000584453:exon6:c.423+1G>T;ENST00000583771:exon4:c.117+1G>T;ENST00000539164:exon6:c.423+1G>T)	.	.	0.999985532734767	0.934
18	693881	C	G	18	693881	y	y	splicing	ENOSF1(NM_001126123:exon5:c.177+1G>C;NM_017512:exon6:c.423+1G>C;NM_202758:exon6:c.486+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.177+1G>C;ENST00000251101:exon6:c.423+1G>C;ENST00000581475:exon6:c.423+1G>C;ENST00000340116:exon6:c.486+1G>C;ENST00000580982:exon5:c.307+1G>C;ENST00000585128:exon5:c.243+1G>C;ENST00000584453:exon6:c.423+1G>C;ENST00000583771:exon4:c.117+1G>C;ENST00000539164:exon6:c.423+1G>C)	.	.	0.999985532734767	0.934
18	693881	C	T	18	693881	y	y	splicing	ENOSF1(NM_001126123:exon5:c.177+1G>A;NM_017512:exon6:c.423+1G>A;NM_202758:exon6:c.486+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.177+1G>A;ENST00000251101:exon6:c.423+1G>A;ENST00000581475:exon6:c.423+1G>A;ENST00000340116:exon6:c.486+1G>A;ENST00000580982:exon5:c.307+1G>A;ENST00000585128:exon5:c.243+1G>A;ENST00000584453:exon6:c.423+1G>A;ENST00000583771:exon4:c.117+1G>A;ENST00000539164:exon6:c.423+1G>A)	.	.	0.999985532734767	0.934
18	693882	C	A	18	693882	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.G423T:p.M141I;ENOSF1:NM_001126123:exon4:c.G177T:p.M59I;ENOSF1:NM_202758:exon5:c.G486T:p.M162I;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000580982:exon4:c.G307T:p.E103X;	0.99993191383674	0.974
18	693882	C	G	18	693882	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.G423C:p.M141I;ENOSF1:NM_001126123:exon4:c.G177C:p.M59I;ENOSF1:NM_202758:exon5:c.G486C:p.M162I;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.G423C:p.M141I;ENSG00000132199:ENST00000583771:exon3:c.G117C:p.M39I;ENSG00000132199:ENST00000251101:exon5:c.G423C:p.M141I;ENSG00000132199:ENST00000581475:exon5:c.G423C:p.M141I;ENSG00000132199:ENST00000383578:exon4:c.G177C:p.M59I;ENSG00000132199:ENST00000539164:exon5:c.G423C:p.M141I;ENSG00000132199:ENST00000580982:exon4:c.G307C:p.E103Q;ENSG00000132199:ENST00000340116:exon5:c.G486C:p.M162I;	0.99998025599163	0.948
18	693882	C	T	18	693882	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.G423A:p.M141I;ENOSF1:NM_001126123:exon4:c.G177A:p.M59I;ENOSF1:NM_202758:exon5:c.G486A:p.M162I;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.G423A:p.M141I;ENSG00000132199:ENST00000583771:exon3:c.G117A:p.M39I;ENSG00000132199:ENST00000251101:exon5:c.G423A:p.M141I;ENSG00000132199:ENST00000581475:exon5:c.G423A:p.M141I;ENSG00000132199:ENST00000383578:exon4:c.G177A:p.M59I;ENSG00000132199:ENST00000539164:exon5:c.G423A:p.M141I;ENSG00000132199:ENST00000580982:exon4:c.G307A:p.E103K;ENSG00000132199:ENST00000340116:exon5:c.G486A:p.M162I;	0.999971891317905	0.984
18	693883	A	C	18	693883	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.T422G:p.M141R;ENOSF1:NM_001126123:exon4:c.T176G:p.M59R;ENOSF1:NM_202758:exon5:c.T485G:p.M162R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.T422G:p.M141R;ENSG00000132199:ENST00000583771:exon3:c.T116G:p.M39R;ENSG00000132199:ENST00000251101:exon5:c.T422G:p.M141R;ENSG00000132199:ENST00000581475:exon5:c.T422G:p.M141R;ENSG00000132199:ENST00000383578:exon4:c.T176G:p.M59R;ENSG00000132199:ENST00000539164:exon5:c.T422G:p.M141R;ENSG00000132199:ENST00000580982:exon4:c.T306G:p.H102Q;ENSG00000132199:ENST00000340116:exon5:c.T485G:p.M162R;	0.962466539996735	0.866
18	693883	A	G	18	693883	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.T422C:p.M141T;ENOSF1:NM_001126123:exon4:c.T176C:p.M59T;ENOSF1:NM_202758:exon5:c.T485C:p.M162T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.T422C:p.M141T;ENSG00000132199:ENST00000583771:exon3:c.T116C:p.M39T;ENSG00000132199:ENST00000251101:exon5:c.T422C:p.M141T;ENSG00000132199:ENST00000581475:exon5:c.T422C:p.M141T;ENSG00000132199:ENST00000383578:exon4:c.T176C:p.M59T;ENSG00000132199:ENST00000539164:exon5:c.T422C:p.M141T;ENSG00000132199:ENST00000340116:exon5:c.T485C:p.M162T;	0.941561929551708	0.81
18	693883	A	T	18	693883	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.T422A:p.M141K;ENOSF1:NM_001126123:exon4:c.T176A:p.M59K;ENOSF1:NM_202758:exon5:c.T485A:p.M162K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.T422A:p.M141K;ENSG00000132199:ENST00000583771:exon3:c.T116A:p.M39K;ENSG00000132199:ENST00000251101:exon5:c.T422A:p.M141K;ENSG00000132199:ENST00000581475:exon5:c.T422A:p.M141K;ENSG00000132199:ENST00000383578:exon4:c.T176A:p.M59K;ENSG00000132199:ENST00000539164:exon5:c.T422A:p.M141K;ENSG00000132199:ENST00000580982:exon4:c.T306A:p.H102Q;ENSG00000132199:ENST00000340116:exon5:c.T485A:p.M162K;	0.724668376624417	0.674
18	693884	T	A	18	693884	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.A421T:p.M141L;ENOSF1:NM_001126123:exon4:c.A175T:p.M59L;ENOSF1:NM_202758:exon5:c.A484T:p.M162L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.A421T:p.M141L;ENSG00000132199:ENST00000583771:exon3:c.A115T:p.M39L;ENSG00000132199:ENST00000251101:exon5:c.A421T:p.M141L;ENSG00000132199:ENST00000581475:exon5:c.A421T:p.M141L;ENSG00000132199:ENST00000383578:exon4:c.A175T:p.M59L;ENSG00000132199:ENST00000539164:exon5:c.A421T:p.M141L;ENSG00000132199:ENST00000580982:exon4:c.A305T:p.H102L;ENSG00000132199:ENST00000340116:exon5:c.A484T:p.M162L;	0.937266230878433	0.572
18	693884	T	C	18	693884	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.A421G:p.M141V;ENOSF1:NM_001126123:exon4:c.A175G:p.M59V;ENOSF1:NM_202758:exon5:c.A484G:p.M162V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.A421G:p.M141V;ENSG00000132199:ENST00000583771:exon3:c.A115G:p.M39V;ENSG00000132199:ENST00000251101:exon5:c.A421G:p.M141V;ENSG00000132199:ENST00000581475:exon5:c.A421G:p.M141V;ENSG00000132199:ENST00000383578:exon4:c.A175G:p.M59V;ENSG00000132199:ENST00000539164:exon5:c.A421G:p.M141V;ENSG00000132199:ENST00000580982:exon4:c.A305G:p.H102R;ENSG00000132199:ENST00000340116:exon5:c.A484G:p.M162V;	0.239159288280837	0.46
18	693884	T	G	18	693884	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.A421C:p.M141L;ENOSF1:NM_001126123:exon4:c.A175C:p.M59L;ENOSF1:NM_202758:exon5:c.A484C:p.M162L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.A421C:p.M141L;ENSG00000132199:ENST00000583771:exon3:c.A115C:p.M39L;ENSG00000132199:ENST00000251101:exon5:c.A421C:p.M141L;ENSG00000132199:ENST00000581475:exon5:c.A421C:p.M141L;ENSG00000132199:ENST00000383578:exon4:c.A175C:p.M59L;ENSG00000132199:ENST00000539164:exon5:c.A421C:p.M141L;ENSG00000132199:ENST00000580982:exon4:c.A305C:p.H102P;ENSG00000132199:ENST00000340116:exon5:c.A484C:p.M162L;	0.147872571984305	0.396
18	693907	G	A	18	693907	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.C398T:p.P133L;ENOSF1:NM_001126123:exon4:c.C152T:p.P51L;ENOSF1:NM_202758:exon5:c.C461T:p.P154L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.C398T:p.P133L;ENSG00000132199:ENST00000583771:exon3:c.C92T:p.P31L;ENSG00000132199:ENST00000251101:exon5:c.C398T:p.P133L;ENSG00000132199:ENST00000581475:exon5:c.C398T:p.P133L;ENSG00000132199:ENST00000383578:exon4:c.C152T:p.P51L;ENSG00000132199:ENST00000539164:exon5:c.C398T:p.P133L;ENSG00000132199:ENST00000340116:exon5:c.C461T:p.P154L;	0.973337915039594	0.71
18	693907	G	C	18	693907	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.C398G:p.P133R;ENOSF1:NM_001126123:exon4:c.C152G:p.P51R;ENOSF1:NM_202758:exon5:c.C461G:p.P154R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.C398G:p.P133R;ENSG00000132199:ENST00000583771:exon3:c.C92G:p.P31R;ENSG00000132199:ENST00000251101:exon5:c.C398G:p.P133R;ENSG00000132199:ENST00000581475:exon5:c.C398G:p.P133R;ENSG00000132199:ENST00000383578:exon4:c.C152G:p.P51R;ENSG00000132199:ENST00000539164:exon5:c.C398G:p.P133R;ENSG00000132199:ENST00000340116:exon5:c.C461G:p.P154R;	0.982172618231545	0.664
18	693907	G	T	18	693907	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.C398A:p.P133H;ENOSF1:NM_001126123:exon4:c.C152A:p.P51H;ENOSF1:NM_202758:exon5:c.C461A:p.P154H;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.C398A:p.P133H;ENSG00000132199:ENST00000583771:exon3:c.C92A:p.P31H;ENSG00000132199:ENST00000251101:exon5:c.C398A:p.P133H;ENSG00000132199:ENST00000581475:exon5:c.C398A:p.P133H;ENSG00000132199:ENST00000383578:exon4:c.C152A:p.P51H;ENSG00000132199:ENST00000539164:exon5:c.C398A:p.P133H;ENSG00000132199:ENST00000340116:exon5:c.C461A:p.P154H;	0.975803999394755	0.7
18	693908	G	A	18	693908	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.C397T:p.P133S;ENOSF1:NM_001126123:exon4:c.C151T:p.P51S;ENOSF1:NM_202758:exon5:c.C460T:p.P154S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.C397T:p.P133S;ENSG00000132199:ENST00000583771:exon3:c.C91T:p.P31S;ENSG00000132199:ENST00000251101:exon5:c.C397T:p.P133S;ENSG00000132199:ENST00000581475:exon5:c.C397T:p.P133S;ENSG00000132199:ENST00000383578:exon4:c.C151T:p.P51S;ENSG00000132199:ENST00000539164:exon5:c.C397T:p.P133S;ENSG00000132199:ENST00000580982:exon4:c.C281T:p.A94V;ENSG00000132199:ENST00000340116:exon5:c.C460T:p.P154S;	0.995663536474217	0.856
18	693908	G	C	18	693908	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.C397G:p.P133A;ENOSF1:NM_001126123:exon4:c.C151G:p.P51A;ENOSF1:NM_202758:exon5:c.C460G:p.P154A;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.C397G:p.P133A;ENSG00000132199:ENST00000583771:exon3:c.C91G:p.P31A;ENSG00000132199:ENST00000251101:exon5:c.C397G:p.P133A;ENSG00000132199:ENST00000581475:exon5:c.C397G:p.P133A;ENSG00000132199:ENST00000383578:exon4:c.C151G:p.P51A;ENSG00000132199:ENST00000539164:exon5:c.C397G:p.P133A;ENSG00000132199:ENST00000580982:exon4:c.C281G:p.A94G;ENSG00000132199:ENST00000340116:exon5:c.C460G:p.P154A;	0.935685826477295	0.556
18	693908	G	T	18	693908	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon5:c.C397A:p.P133T;ENOSF1:NM_001126123:exon4:c.C151A:p.P51T;ENOSF1:NM_202758:exon5:c.C460A:p.P154T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon5:c.C397A:p.P133T;ENSG00000132199:ENST00000583771:exon3:c.C91A:p.P31T;ENSG00000132199:ENST00000251101:exon5:c.C397A:p.P133T;ENSG00000132199:ENST00000581475:exon5:c.C397A:p.P133T;ENSG00000132199:ENST00000383578:exon4:c.C151A:p.P51T;ENSG00000132199:ENST00000539164:exon5:c.C397A:p.P133T;ENSG00000132199:ENST00000580982:exon4:c.C281A:p.A94D;ENSG00000132199:ENST00000340116:exon5:c.C460A:p.P154T;	0.939180267507719	0.664
18	693909	C	A	18	693909	y	y	splicing	ENOSF1(NM_001126123:exon5:c.151-1G>T;NM_017512:exon6:c.397-1G>T;NM_202758:exon6:c.460-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.151-1G>T;ENST00000251101:exon6:c.397-1G>T;ENST00000581475:exon6:c.397-1G>T;ENST00000340116:exon6:c.460-1G>T;ENST00000580982:exon5:c.281-1G>T;ENST00000585128:exon5:c.217-1G>T;ENST00000584453:exon6:c.397-1G>T;ENST00000583771:exon4:c.91-1G>T;ENST00000539164:exon6:c.397-1G>T)	.	.	0.999916487880886	0.968
18	693909	C	G	18	693909	y	y	splicing	ENOSF1(NM_001126123:exon5:c.151-1G>C;NM_017512:exon6:c.397-1G>C;NM_202758:exon6:c.460-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.151-1G>C;ENST00000251101:exon6:c.397-1G>C;ENST00000581475:exon6:c.397-1G>C;ENST00000340116:exon6:c.460-1G>C;ENST00000580982:exon5:c.281-1G>C;ENST00000585128:exon5:c.217-1G>C;ENST00000584453:exon6:c.397-1G>C;ENST00000583771:exon4:c.91-1G>C;ENST00000539164:exon6:c.397-1G>C)	.	.	0.999916487880886	0.968
18	693909	C	T	18	693909	y	y	splicing	ENOSF1(NM_001126123:exon5:c.151-1G>A;NM_017512:exon6:c.397-1G>A;NM_202758:exon6:c.460-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.151-1G>A;ENST00000251101:exon6:c.397-1G>A;ENST00000581475:exon6:c.397-1G>A;ENST00000340116:exon6:c.460-1G>A;ENST00000580982:exon5:c.281-1G>A;ENST00000585128:exon5:c.217-1G>A;ENST00000584453:exon6:c.397-1G>A;ENST00000583771:exon4:c.91-1G>A;ENST00000539164:exon6:c.397-1G>A)	.	.	0.999915710762489	0.968
18	693910	T	A	18	693910	y	y	splicing	ENOSF1(NM_001126123:exon5:c.151-2A>T;NM_017512:exon6:c.397-2A>T;NM_202758:exon6:c.460-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.151-2A>T;ENST00000251101:exon6:c.397-2A>T;ENST00000581475:exon6:c.397-2A>T;ENST00000340116:exon6:c.460-2A>T;ENST00000580982:exon5:c.281-2A>T;ENST00000585128:exon5:c.217-2A>T;ENST00000584453:exon6:c.397-2A>T;ENST00000583771:exon4:c.91-2A>T;ENST00000539164:exon6:c.397-2A>T)	.	.	0.999978156327223	0.954
18	693910	T	C	18	693910	y	y	splicing	ENOSF1(NM_001126123:exon5:c.151-2A>G;NM_017512:exon6:c.397-2A>G;NM_202758:exon6:c.460-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.151-2A>G;ENST00000251101:exon6:c.397-2A>G;ENST00000581475:exon6:c.397-2A>G;ENST00000340116:exon6:c.460-2A>G;ENST00000580982:exon5:c.281-2A>G;ENST00000585128:exon5:c.217-2A>G;ENST00000584453:exon6:c.397-2A>G;ENST00000583771:exon4:c.91-2A>G;ENST00000539164:exon6:c.397-2A>G)	.	.	0.999970104448312	0.93
18	693910	T	G	18	693910	y	y	splicing	ENOSF1(NM_001126123:exon5:c.151-2A>C;NM_017512:exon6:c.397-2A>C;NM_202758:exon6:c.460-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon5:c.151-2A>C;ENST00000251101:exon6:c.397-2A>C;ENST00000581475:exon6:c.397-2A>C;ENST00000340116:exon6:c.460-2A>C;ENST00000580982:exon5:c.281-2A>C;ENST00000585128:exon5:c.217-2A>C;ENST00000584453:exon6:c.397-2A>C;ENST00000583771:exon4:c.91-2A>C;ENST00000539164:exon6:c.397-2A>C)	.	.	0.99997739437695	0.932
18	693911	T	A	18	693911	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.88198205087901E-5	0.026
18	693911	T	C	18	693911	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.249491097218297	0.34
18	693911	T	G	18	693911	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.24870585749349E-4	0.158
18	693912	G	A	18	693912	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.13966650034118E-5	0.004
18	693912	G	C	18	693912	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.18898636579978E-4	0.142
18	693912	G	T	18	693912	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.13966650034118E-5	0.002
18	693913	A	C	18	693913	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0903752575260693	0.346
18	693913	A	G	18	693913	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00247144848555905	0.152
18	693913	A	T	18	693913	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0784653542353084	0.32
18	693914	A	C	18	693914	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0274075859003119	0.302
18	693914	A	G	18	693914	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.64029068751711E-4	0.04
18	693914	A	T	18	693914	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0609163673581511	0.264
18	693915	G	A	18	693915	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.50656640076514E-5	0.058
18	693915	G	C	18	693915	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999908802173853	0.942
18	693915	G	T	18	693915	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.31165520378131E-4	0.098
18	693916	T	A	18	693916	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.71741083021859E-5	0.002
18	693916	T	C	18	693916	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.13251937226781E-5	0.0
18	693916	T	G	18	693916	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.59163514984598E-5	0.002
18	693917	A	C	18	693917	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.33921315641894E-4	0.06
18	693917	A	G	18	693917	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.63276255804337E-5	0.024
18	693917	A	T	18	693917	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00109747360898998	0.164
18	693918	A	C	18	693918	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.45547221835984E-4	0.106
18	693918	A	G	18	693918	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.80586389022267E-4	0.06
18	693918	A	T	18	693918	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00230808393997679	0.192
18	693919	A	C	18	693919	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.0991524617978E-4	0.13
18	693919	A	G	18	693919	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.20352925496312E-4	0.096
18	693919	A	T	18	693919	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00383541172794808	0.27
18	693920	A	C	18	693920	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00345698723464395	0.092
18	693920	A	G	18	693920	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00104814676268585	0.098
18	693920	A	T	18	693920	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00127778430290401	0.068
18	694240	G	A	18	694240	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.32075363519789E-6	0.0
18	694240	G	C	18	694240	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.82152694110954E-6	0.0
18	694240	G	T	18	694240	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.63079944699724E-6	0.0
18	694241	G	A	18	694241	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.57462768143756E-4	0.038
18	694241	G	C	18	694241	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.82081959278003E-4	0.008
18	694241	G	T	18	694241	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.20768516746857E-4	0.0
18	694242	G	A	18	694242	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.69523942706158E-5	0.004
18	694242	G	C	18	694242	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.11513889833223E-5	0.006
18	694242	G	T	18	694242	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.57250299082678E-4	0.0
18	694243	G	A	18	694243	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.77008702704765E-4	0.032
18	694243	G	C	18	694243	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.76858778944282E-4	0.064
18	694243	G	T	18	694243	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.69665551366589E-5	0.032
18	694244	T	A	18	694244	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.276791589549102	0.328
18	694244	T	C	18	694244	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0858100854660565	0.272
18	694244	T	G	18	694244	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.10077236762845	0.354
18	694245	T	A	18	694245	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.997336888778389	0.738
18	694245	T	C	18	694245	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.148863641225069	0.396
18	694245	T	G	18	694245	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99231187792145	0.694
18	694246	A	C	18	694246	y	y	splicing	ENOSF1(NM_001126123:exon4:c.150+2T>G;NM_017512:exon5:c.396+2T>G;NM_202758:exon5:c.459+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.150+2T>G;ENST00000251101:exon5:c.396+2T>G;ENST00000581475:exon5:c.396+2T>G;ENST00000340116:exon5:c.459+2T>G;ENST00000580982:exon4:c.280+2T>G;ENST00000585128:exon4:c.216+2T>G;ENST00000584453:exon5:c.396+2T>G;ENST00000583771:exon3:c.90+2T>G;ENST00000539164:exon5:c.396+2T>G)	.	.	0.999988247793601	0.926
18	694246	A	G	18	694246	y	y	splicing	ENOSF1(NM_001126123:exon4:c.150+2T>C;NM_017512:exon5:c.396+2T>C;NM_202758:exon5:c.459+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.150+2T>C;ENST00000251101:exon5:c.396+2T>C;ENST00000581475:exon5:c.396+2T>C;ENST00000340116:exon5:c.459+2T>C;ENST00000580982:exon4:c.280+2T>C;ENST00000585128:exon4:c.216+2T>C;ENST00000584453:exon5:c.396+2T>C;ENST00000583771:exon3:c.90+2T>C;ENST00000539164:exon5:c.396+2T>C)	.	.	0.98918007292081	0.642
18	694246	A	T	18	694246	y	y	splicing	ENOSF1(NM_001126123:exon4:c.150+2T>A;NM_017512:exon5:c.396+2T>A;NM_202758:exon5:c.459+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.150+2T>A;ENST00000251101:exon5:c.396+2T>A;ENST00000581475:exon5:c.396+2T>A;ENST00000340116:exon5:c.459+2T>A;ENST00000580982:exon4:c.280+2T>A;ENST00000585128:exon4:c.216+2T>A;ENST00000584453:exon5:c.396+2T>A;ENST00000583771:exon3:c.90+2T>A;ENST00000539164:exon5:c.396+2T>A)	.	.	0.999988247793601	0.926
18	694247	C	A	18	694247	y	y	splicing	ENOSF1(NM_001126123:exon4:c.150+1G>T;NM_017512:exon5:c.396+1G>T;NM_202758:exon5:c.459+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.150+1G>T;ENST00000251101:exon5:c.396+1G>T;ENST00000581475:exon5:c.396+1G>T;ENST00000340116:exon5:c.459+1G>T;ENST00000580982:exon4:c.280+1G>T;ENST00000585128:exon4:c.216+1G>T;ENST00000584453:exon5:c.396+1G>T;ENST00000583771:exon3:c.90+1G>T;ENST00000539164:exon5:c.396+1G>T)	.	.	0.999985532734767	0.934
18	694247	C	G	18	694247	y	y	splicing	ENOSF1(NM_001126123:exon4:c.150+1G>C;NM_017512:exon5:c.396+1G>C;NM_202758:exon5:c.459+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.150+1G>C;ENST00000251101:exon5:c.396+1G>C;ENST00000581475:exon5:c.396+1G>C;ENST00000340116:exon5:c.459+1G>C;ENST00000580982:exon4:c.280+1G>C;ENST00000585128:exon4:c.216+1G>C;ENST00000584453:exon5:c.396+1G>C;ENST00000583771:exon3:c.90+1G>C;ENST00000539164:exon5:c.396+1G>C)	.	.	0.999985532734767	0.934
18	694247	C	T	18	694247	y	y	splicing	ENOSF1(NM_001126123:exon4:c.150+1G>A;NM_017512:exon5:c.396+1G>A;NM_202758:exon5:c.459+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.150+1G>A;ENST00000251101:exon5:c.396+1G>A;ENST00000581475:exon5:c.396+1G>A;ENST00000340116:exon5:c.459+1G>A;ENST00000580982:exon4:c.280+1G>A;ENST00000585128:exon4:c.216+1G>A;ENST00000584453:exon5:c.396+1G>A;ENST00000583771:exon3:c.90+1G>A;ENST00000539164:exon5:c.396+1G>A)	.	.	0.999985532734767	0.936
18	694248	C	A	18	694248	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.G396T:p.K132N;ENOSF1:NM_001126123:exon3:c.G150T:p.K50N;ENOSF1:NM_202758:exon4:c.G459T:p.K153N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.G396T:p.K132N;ENSG00000132199:ENST00000583771:exon2:c.G90T:p.K30N;ENSG00000132199:ENST00000251101:exon4:c.G396T:p.K132N;ENSG00000132199:ENST00000581475:exon4:c.G396T:p.K132N;ENSG00000132199:ENST00000383578:exon3:c.G150T:p.K50N;ENSG00000132199:ENST00000539164:exon4:c.G396T:p.K132N;ENSG00000132199:ENST00000580982:exon3:c.G280T:p.A94S;ENSG00000132199:ENST00000340116:exon4:c.G459T:p.K153N;	0.999959996779088	0.988
18	694248	C	G	18	694248	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.G396C:p.K132N;ENOSF1:NM_001126123:exon3:c.G150C:p.K50N;ENOSF1:NM_202758:exon4:c.G459C:p.K153N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.G396C:p.K132N;ENSG00000132199:ENST00000583771:exon2:c.G90C:p.K30N;ENSG00000132199:ENST00000251101:exon4:c.G396C:p.K132N;ENSG00000132199:ENST00000581475:exon4:c.G396C:p.K132N;ENSG00000132199:ENST00000383578:exon3:c.G150C:p.K50N;ENSG00000132199:ENST00000539164:exon4:c.G396C:p.K132N;ENSG00000132199:ENST00000580982:exon3:c.G280C:p.A94P;ENSG00000132199:ENST00000340116:exon4:c.G459C:p.K153N;	0.999991579223159	0.998
18	694248	C	T	18	694248	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon4:c.G396A:p.K132K;ENOSF1:NM_001126123:exon3:c.G150A:p.K50K;ENOSF1:NM_202758:exon4:c.G459A:p.K153K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000580982:exon3:c.G280A:p.A94T;	0.999990763856982	0.996
18	694249	T	A	18	694249	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.A395T:p.K132M;ENOSF1:NM_001126123:exon3:c.A149T:p.K50M;ENOSF1:NM_202758:exon4:c.A458T:p.K153M;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.A395T:p.K132M;ENSG00000132199:ENST00000583771:exon2:c.A89T:p.K30M;ENSG00000132199:ENST00000251101:exon4:c.A395T:p.K132M;ENSG00000132199:ENST00000581475:exon4:c.A395T:p.K132M;ENSG00000132199:ENST00000383578:exon3:c.A149T:p.K50M;ENSG00000132199:ENST00000539164:exon4:c.A395T:p.K132M;ENSG00000132199:ENST00000580982:exon3:c.A279T:p.K93N;ENSG00000132199:ENST00000340116:exon4:c.A458T:p.K153M;	0.999929867744749	0.996
18	694249	T	C	18	694249	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.A395G:p.K132R;ENOSF1:NM_001126123:exon3:c.A149G:p.K50R;ENOSF1:NM_202758:exon4:c.A458G:p.K153R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.A395G:p.K132R;ENSG00000132199:ENST00000583771:exon2:c.A89G:p.K30R;ENSG00000132199:ENST00000251101:exon4:c.A395G:p.K132R;ENSG00000132199:ENST00000581475:exon4:c.A395G:p.K132R;ENSG00000132199:ENST00000383578:exon3:c.A149G:p.K50R;ENSG00000132199:ENST00000539164:exon4:c.A395G:p.K132R;ENSG00000132199:ENST00000340116:exon4:c.A458G:p.K153R;	0.999929867744749	0.998
18	694249	T	G	18	694249	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.A395C:p.K132T;ENOSF1:NM_001126123:exon3:c.A149C:p.K50T;ENOSF1:NM_202758:exon4:c.A458C:p.K153T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.A395C:p.K132T;ENSG00000132199:ENST00000583771:exon2:c.A89C:p.K30T;ENSG00000132199:ENST00000251101:exon4:c.A395C:p.K132T;ENSG00000132199:ENST00000581475:exon4:c.A395C:p.K132T;ENSG00000132199:ENST00000383578:exon3:c.A149C:p.K50T;ENSG00000132199:ENST00000539164:exon4:c.A395C:p.K132T;ENSG00000132199:ENST00000580982:exon3:c.A279C:p.K93N;ENSG00000132199:ENST00000340116:exon4:c.A458C:p.K153T;	0.999847728170711	0.97
18	694250	T	A	18	694250	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon4:c.A394T:p.K132X;ENOSF1:NM_001126123:exon3:c.A148T:p.K50X;ENOSF1:NM_202758:exon4:c.A457T:p.K153X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000584453:exon4:c.A394T:p.K132X;ENSG00000132199:ENST00000583771:exon2:c.A88T:p.K30X;ENSG00000132199:ENST00000251101:exon4:c.A394T:p.K132X;ENSG00000132199:ENST00000581475:exon4:c.A394T:p.K132X;ENSG00000132199:ENST00000383578:exon3:c.A148T:p.K50X;ENSG00000132199:ENST00000539164:exon4:c.A394T:p.K132X;ENSG00000132199:ENST00000340116:exon4:c.A457T:p.K153X;	0.997158875827615	0.826
18	694250	T	C	18	694250	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.A394G:p.K132E;ENOSF1:NM_001126123:exon3:c.A148G:p.K50E;ENOSF1:NM_202758:exon4:c.A457G:p.K153E;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.A394G:p.K132E;ENSG00000132199:ENST00000583771:exon2:c.A88G:p.K30E;ENSG00000132199:ENST00000251101:exon4:c.A394G:p.K132E;ENSG00000132199:ENST00000581475:exon4:c.A394G:p.K132E;ENSG00000132199:ENST00000383578:exon3:c.A148G:p.K50E;ENSG00000132199:ENST00000539164:exon4:c.A394G:p.K132E;ENSG00000132199:ENST00000580982:exon3:c.A278G:p.K93R;ENSG00000132199:ENST00000340116:exon4:c.A457G:p.K153E;	0.6632550205491	0.458
18	694250	T	G	18	694250	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.A394C:p.K132Q;ENOSF1:NM_001126123:exon3:c.A148C:p.K50Q;ENOSF1:NM_202758:exon4:c.A457C:p.K153Q;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.A394C:p.K132Q;ENSG00000132199:ENST00000583771:exon2:c.A88C:p.K30Q;ENSG00000132199:ENST00000251101:exon4:c.A394C:p.K132Q;ENSG00000132199:ENST00000581475:exon4:c.A394C:p.K132Q;ENSG00000132199:ENST00000383578:exon3:c.A148C:p.K50Q;ENSG00000132199:ENST00000539164:exon4:c.A394C:p.K132Q;ENSG00000132199:ENST00000580982:exon3:c.A278C:p.K93T;ENSG00000132199:ENST00000340116:exon4:c.A457C:p.K153Q;	0.591926452554622	0.672
18	694333	A	C	18	694333	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.T311G:p.I104S;ENOSF1:NM_001126123:exon3:c.T65G:p.I22S;ENOSF1:NM_202758:exon4:c.T374G:p.I125S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.T311G:p.I104S;ENSG00000132199:ENST00000583771:exon2:c.T5G:p.I2S;ENSG00000132199:ENST00000251101:exon4:c.T311G:p.I104S;ENSG00000132199:ENST00000581475:exon4:c.T311G:p.I104S;ENSG00000132199:ENST00000383578:exon3:c.T65G:p.I22S;ENSG00000132199:ENST00000539164:exon4:c.T311G:p.I104S;ENSG00000132199:ENST00000580982:exon3:c.T195G:p.D65E;ENSG00000132199:ENST00000340116:exon4:c.T374G:p.I125S;	0.734766379760031	0.37
18	694333	A	G	18	694333	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.T311C:p.I104T;ENOSF1:NM_001126123:exon3:c.T65C:p.I22T;ENOSF1:NM_202758:exon4:c.T374C:p.I125T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.T311C:p.I104T;ENSG00000132199:ENST00000583771:exon2:c.T5C:p.I2T;ENSG00000132199:ENST00000251101:exon4:c.T311C:p.I104T;ENSG00000132199:ENST00000581475:exon4:c.T311C:p.I104T;ENSG00000132199:ENST00000383578:exon3:c.T65C:p.I22T;ENSG00000132199:ENST00000539164:exon4:c.T311C:p.I104T;ENSG00000132199:ENST00000340116:exon4:c.T374C:p.I125T;	0.610447462745084	0.4
18	694333	A	T	18	694333	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.T311A:p.I104N;ENOSF1:NM_001126123:exon3:c.T65A:p.I22N;ENOSF1:NM_202758:exon4:c.T374A:p.I125N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.T311A:p.I104N;ENSG00000132199:ENST00000583771:exon2:c.T5A:p.I2N;ENSG00000132199:ENST00000251101:exon4:c.T311A:p.I104N;ENSG00000132199:ENST00000581475:exon4:c.T311A:p.I104N;ENSG00000132199:ENST00000383578:exon3:c.T65A:p.I22N;ENSG00000132199:ENST00000539164:exon4:c.T311A:p.I104N;ENSG00000132199:ENST00000580982:exon3:c.T195A:p.D65E;ENSG00000132199:ENST00000340116:exon4:c.T374A:p.I125N;	0.759034406107016	0.416
18	694334	T	A	18	694334	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.A310T:p.I104F;ENOSF1:NM_001126123:exon3:c.A64T:p.I22F;ENOSF1:NM_202758:exon4:c.A373T:p.I125F;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.A310T:p.I104F;ENSG00000132199:ENST00000583771:exon2:c.A4T:p.I2F;ENSG00000132199:ENST00000251101:exon4:c.A310T:p.I104F;ENSG00000132199:ENST00000581475:exon4:c.A310T:p.I104F;ENSG00000132199:ENST00000383578:exon3:c.A64T:p.I22F;ENSG00000132199:ENST00000539164:exon4:c.A310T:p.I104F;ENSG00000132199:ENST00000580982:exon3:c.A194T:p.D65V;ENSG00000132199:ENST00000340116:exon4:c.A373T:p.I125F;	0.533178980444964	0.452
18	694334	T	C	18	694334	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.A310G:p.I104V;ENOSF1:NM_001126123:exon3:c.A64G:p.I22V;ENOSF1:NM_202758:exon4:c.A373G:p.I125V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.A310G:p.I104V;ENSG00000132199:ENST00000583771:exon2:c.A4G:p.I2V;ENSG00000132199:ENST00000251101:exon4:c.A310G:p.I104V;ENSG00000132199:ENST00000581475:exon4:c.A310G:p.I104V;ENSG00000132199:ENST00000383578:exon3:c.A64G:p.I22V;ENSG00000132199:ENST00000539164:exon4:c.A310G:p.I104V;ENSG00000132199:ENST00000580982:exon3:c.A194G:p.D65G;ENSG00000132199:ENST00000340116:exon4:c.A373G:p.I125V;	3.35821474394251E-4	0.022
18	694334	T	G	18	694334	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon4:c.A310C:p.I104L;ENOSF1:NM_001126123:exon3:c.A64C:p.I22L;ENOSF1:NM_202758:exon4:c.A373C:p.I125L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon4:c.A310C:p.I104L;ENSG00000132199:ENST00000583771:exon2:c.A4C:p.I2L;ENSG00000132199:ENST00000251101:exon4:c.A310C:p.I104L;ENSG00000132199:ENST00000581475:exon4:c.A310C:p.I104L;ENSG00000132199:ENST00000383578:exon3:c.A64C:p.I22L;ENSG00000132199:ENST00000539164:exon4:c.A310C:p.I104L;ENSG00000132199:ENST00000580982:exon3:c.A194C:p.D65A;ENSG00000132199:ENST00000340116:exon4:c.A373C:p.I125L;	0.00183953390072624	0.206
18	694335	C	A	18	694335	y	y	splicing	ENOSF1(NM_001126123:exon4:c.64-1G>T;NM_017512:exon5:c.310-1G>T;NM_202758:exon5:c.373-1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.64-1G>T;ENST00000251101:exon5:c.310-1G>T;ENST00000581475:exon5:c.310-1G>T;ENST00000340116:exon5:c.373-1G>T;ENST00000580982:exon4:c.194-1G>T;ENST00000585128:exon4:c.130-1G>T;ENST00000584453:exon5:c.310-1G>T;ENST00000583771:exon3:c.4-1G>T;ENST00000539164:exon5:c.310-1G>T)	.	.	0.999965722254998	0.888
18	694335	C	G	18	694335	y	y	splicing	ENOSF1(NM_001126123:exon4:c.64-1G>C;NM_017512:exon5:c.310-1G>C;NM_202758:exon5:c.373-1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.64-1G>C;ENST00000251101:exon5:c.310-1G>C;ENST00000581475:exon5:c.310-1G>C;ENST00000340116:exon5:c.373-1G>C;ENST00000580982:exon4:c.194-1G>C;ENST00000585128:exon4:c.130-1G>C;ENST00000584453:exon5:c.310-1G>C;ENST00000583771:exon3:c.4-1G>C;ENST00000539164:exon5:c.310-1G>C)	.	.	0.999962153403958	0.896
18	694335	C	T	18	694335	y	y	splicing	ENOSF1(NM_001126123:exon4:c.64-1G>A;NM_017512:exon5:c.310-1G>A;NM_202758:exon5:c.373-1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.64-1G>A;ENST00000251101:exon5:c.310-1G>A;ENST00000581475:exon5:c.310-1G>A;ENST00000340116:exon5:c.373-1G>A;ENST00000580982:exon4:c.194-1G>A;ENST00000585128:exon4:c.130-1G>A;ENST00000584453:exon5:c.310-1G>A;ENST00000583771:exon3:c.4-1G>A;ENST00000539164:exon5:c.310-1G>A)	.	.	0.999966603939759	0.92
18	694336	T	A	18	694336	y	y	splicing	ENOSF1(NM_001126123:exon4:c.64-2A>T;NM_017512:exon5:c.310-2A>T;NM_202758:exon5:c.373-2A>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.64-2A>T;ENST00000251101:exon5:c.310-2A>T;ENST00000581475:exon5:c.310-2A>T;ENST00000340116:exon5:c.373-2A>T;ENST00000580982:exon4:c.194-2A>T;ENST00000585128:exon4:c.130-2A>T;ENST00000584453:exon5:c.310-2A>T;ENST00000583771:exon3:c.4-2A>T;ENST00000539164:exon5:c.310-2A>T)	.	.	0.999962958601995	0.816
18	694336	T	C	18	694336	y	y	splicing	ENOSF1(NM_001126123:exon4:c.64-2A>G;NM_017512:exon5:c.310-2A>G;NM_202758:exon5:c.373-2A>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.64-2A>G;ENST00000251101:exon5:c.310-2A>G;ENST00000581475:exon5:c.310-2A>G;ENST00000340116:exon5:c.373-2A>G;ENST00000580982:exon4:c.194-2A>G;ENST00000585128:exon4:c.130-2A>G;ENST00000584453:exon5:c.310-2A>G;ENST00000583771:exon3:c.4-2A>G;ENST00000539164:exon5:c.310-2A>G)	.	.	0.999962958601995	0.81
18	694336	T	G	18	694336	y	y	splicing	ENOSF1(NM_001126123:exon4:c.64-2A>C;NM_017512:exon5:c.310-2A>C;NM_202758:exon5:c.373-2A>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon4:c.64-2A>C;ENST00000251101:exon5:c.310-2A>C;ENST00000581475:exon5:c.310-2A>C;ENST00000340116:exon5:c.373-2A>C;ENST00000580982:exon4:c.194-2A>C;ENST00000585128:exon4:c.130-2A>C;ENST00000584453:exon5:c.310-2A>C;ENST00000583771:exon3:c.4-2A>C;ENST00000539164:exon5:c.310-2A>C)	.	.	0.999962958601995	0.81
18	694337	G	A	18	694337	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00400923783543513	0.096
18	694337	G	C	18	694337	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999907241458021	0.88
18	694337	G	T	18	694337	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.958333366482399	0.834
18	694338	G	A	18	694338	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.55386417483473E-5	0.01
18	694338	G	C	18	694338	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.458481192996843	0.548
18	694338	G	T	18	694338	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.7985239922351E-5	0.016
18	694339	T	A	18	694339	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.94680186181628E-5	0.036
18	694339	T	C	18	694339	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99700188600476	0.966
18	694339	T	G	18	694339	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.87089880372001E-5	0.008
18	694340	T	A	18	694340	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.6145473046765E-5	0.01
18	694340	T	C	18	694340	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.6802576808492E-5	0.0
18	694340	T	G	18	694340	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.6145473046765E-5	0.0
18	694341	A	C	18	694341	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.48822068982303E-4	0.096
18	694341	A	G	18	694341	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.92146406994438E-6	0.0
18	694341	A	T	18	694341	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.48822068982303E-4	0.086
18	694342	G	A	18	694342	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.75581247756879E-5	0.034
18	694342	G	C	18	694342	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.78284361133029E-4	0.122
18	694342	G	T	18	694342	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00111811665085635	0.104
18	694343	G	A	18	694343	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.70560878329575E-4	0.004
18	694343	G	C	18	694343	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00381965372512518	0.19
18	694343	G	T	18	694343	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00479900958182665	0.144
18	694344	A	C	18	694344	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.299794208668793	0.512
18	694344	A	G	18	694344	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.89684394393689E-4	0.104
18	694344	A	T	18	694344	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.571952237781712	0.514
18	694345	A	C	18	694345	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.087403656269842	0.546
18	694345	A	G	18	694345	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0101678225445539	0.236
18	694345	A	T	18	694345	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.183082895247233	0.482
18	694346	G	A	18	694346	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.02754041143724E-5	0.006
18	694346	G	C	18	694346	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.14384208683347E-4	0.086
18	694346	G	T	18	694346	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.72336708351409E-4	0.1
18	697232	T	A	18	697232	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.60899557452262E-5	0.0
18	697232	T	C	18	697232	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.93644701995358E-5	0.0
18	697232	T	G	18	697232	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.44381482222864E-5	0.0
18	697233	C	A	18	697233	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.69642728282262E-5	0.0
18	697233	C	G	18	697233	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.66672549778408E-5	0.0
18	697233	C	T	18	697233	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.60119364403354E-5	0.006
18	697234	C	A	18	697234	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.24767171623395E-5	0.0
18	697234	C	G	18	697234	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.10922836871866E-5	0.0
18	697234	C	T	18	697234	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.26485402072548E-4	0.0
18	697235	C	A	18	697235	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999184045353078	0.926
18	697235	C	G	18	697235	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999510355694564	0.932
18	697235	C	T	18	697235	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999365838374838	0.974
18	697236	T	A	18	697236	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.9971885468859	0.9
18	697236	T	C	18	697236	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.996360538401468	0.942
18	697236	T	G	18	697236	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.995681672311491	0.88
18	697237	T	A	18	697237	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999843521050176	0.954
18	697237	T	C	18	697237	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.97781533641063	0.726
18	697237	T	G	18	697237	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999892524774299	0.946
18	697238	A	C	18	697238	y	y	splicing	ENOSF1(NM_017512:exon4:c.309+2T>G;NM_202758:exon4:c.372+2T>G)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.309+2T>G;ENST00000581475:exon4:c.309+2T>G;ENST00000340116:exon4:c.372+2T>G;ENST00000584453:exon4:c.309+2T>G;ENST00000539164:exon4:c.309+2T>G)	.	.	0.999989917668626	0.928
18	697238	A	G	18	697238	y	y	splicing	ENOSF1(NM_017512:exon4:c.309+2T>C;NM_202758:exon4:c.372+2T>C)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.309+2T>C;ENST00000581475:exon4:c.309+2T>C;ENST00000340116:exon4:c.372+2T>C;ENST00000584453:exon4:c.309+2T>C;ENST00000539164:exon4:c.309+2T>C)	.	.	0.999941273443095	0.888
18	697238	A	T	18	697238	y	y	splicing	ENOSF1(NM_017512:exon4:c.309+2T>A;NM_202758:exon4:c.372+2T>A)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.309+2T>A;ENST00000581475:exon4:c.309+2T>A;ENST00000340116:exon4:c.372+2T>A;ENST00000584453:exon4:c.309+2T>A;ENST00000539164:exon4:c.309+2T>A)	.	.	0.999989917668626	0.928
18	697239	C	A	18	697239	y	y	splicing	ENOSF1(NM_017512:exon4:c.309+1G>T;NM_202758:exon4:c.372+1G>T)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.309+1G>T;ENST00000581475:exon4:c.309+1G>T;ENST00000340116:exon4:c.372+1G>T;ENST00000584453:exon4:c.309+1G>T;ENST00000539164:exon4:c.309+1G>T)	.	.	0.999981760802075	0.938
18	697239	C	G	18	697239	y	y	splicing	ENOSF1(NM_017512:exon4:c.309+1G>C;NM_202758:exon4:c.372+1G>C)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.309+1G>C;ENST00000581475:exon4:c.309+1G>C;ENST00000340116:exon4:c.372+1G>C;ENST00000584453:exon4:c.309+1G>C;ENST00000539164:exon4:c.309+1G>C)	.	.	0.999981760802075	0.938
18	697239	C	T	18	697239	y	y	splicing	ENOSF1(NM_017512:exon4:c.309+1G>A;NM_202758:exon4:c.372+1G>A)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.309+1G>A;ENST00000581475:exon4:c.309+1G>A;ENST00000340116:exon4:c.372+1G>A;ENST00000584453:exon4:c.309+1G>A;ENST00000539164:exon4:c.309+1G>A)	.	.	0.999981760802075	0.938
18	697240	C	A	18	697240	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.G309T:p.W103C;ENOSF1:NM_202758:exon3:c.G372T:p.W124C;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.G309T:p.W103C;ENSG00000132199:ENST00000251101:exon3:c.G309T:p.W103C;ENSG00000132199:ENST00000581475:exon3:c.G309T:p.W103C;ENSG00000132199:ENST00000539164:exon3:c.G309T:p.W103C;ENSG00000132199:ENST00000340116:exon3:c.G372T:p.W124C;	0.999975017469347	1.0
18	697240	C	G	18	697240	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.G309C:p.W103C;ENOSF1:NM_202758:exon3:c.G372C:p.W124C;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.G309C:p.W103C;ENSG00000132199:ENST00000251101:exon3:c.G309C:p.W103C;ENSG00000132199:ENST00000581475:exon3:c.G309C:p.W103C;ENSG00000132199:ENST00000539164:exon3:c.G309C:p.W103C;ENSG00000132199:ENST00000340116:exon3:c.G372C:p.W124C;	0.999996529962171	0.998
18	697240	C	T	18	697240	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon3:c.G309A:p.W103X;ENOSF1:NM_202758:exon3:c.G372A:p.W124X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000584453:exon3:c.G309A:p.W103X;ENSG00000132199:ENST00000251101:exon3:c.G309A:p.W103X;ENSG00000132199:ENST00000581475:exon3:c.G309A:p.W103X;ENSG00000132199:ENST00000539164:exon3:c.G309A:p.W103X;ENSG00000132199:ENST00000340116:exon3:c.G372A:p.W124X;	0.999979299738236	1.0
18	697241	C	A	18	697241	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.G308T:p.W103L;ENOSF1:NM_202758:exon3:c.G371T:p.W124L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.G308T:p.W103L;ENSG00000132199:ENST00000251101:exon3:c.G308T:p.W103L;ENSG00000132199:ENST00000581475:exon3:c.G308T:p.W103L;ENSG00000132199:ENST00000539164:exon3:c.G308T:p.W103L;ENSG00000132199:ENST00000340116:exon3:c.G371T:p.W124L;	0.167428477756784	0.328
18	697241	C	G	18	697241	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.G308C:p.W103S;ENOSF1:NM_202758:exon3:c.G371C:p.W124S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.G308C:p.W103S;ENSG00000132199:ENST00000251101:exon3:c.G308C:p.W103S;ENSG00000132199:ENST00000581475:exon3:c.G308C:p.W103S;ENSG00000132199:ENST00000539164:exon3:c.G308C:p.W103S;ENSG00000132199:ENST00000340116:exon3:c.G371C:p.W124S;	0.0918950467505131	0.344
18	697241	C	T	18	697241	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_017512:exon3:c.G308A:p.W103X;ENOSF1:NM_202758:exon3:c.G371A:p.W124X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000584453:exon3:c.G308A:p.W103X;ENSG00000132199:ENST00000251101:exon3:c.G308A:p.W103X;ENSG00000132199:ENST00000581475:exon3:c.G308A:p.W103X;ENSG00000132199:ENST00000539164:exon3:c.G308A:p.W103X;ENSG00000132199:ENST00000340116:exon3:c.G371A:p.W124X;	0.029522648253631	0.398
18	697242	A	C	18	697242	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.T307G:p.W103G;ENOSF1:NM_202758:exon3:c.T370G:p.W124G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T307G:p.W103G;ENSG00000132199:ENST00000251101:exon3:c.T307G:p.W103G;ENSG00000132199:ENST00000581475:exon3:c.T307G:p.W103G;ENSG00000132199:ENST00000539164:exon3:c.T307G:p.W103G;ENSG00000132199:ENST00000340116:exon3:c.T370G:p.W124G;	0.0479070992139567	0.294
18	697242	A	G	18	697242	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.T307C:p.W103R;ENOSF1:NM_202758:exon3:c.T370C:p.W124R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T307C:p.W103R;ENSG00000132199:ENST00000251101:exon3:c.T307C:p.W103R;ENSG00000132199:ENST00000581475:exon3:c.T307C:p.W103R;ENSG00000132199:ENST00000539164:exon3:c.T307C:p.W103R;ENSG00000132199:ENST00000340116:exon3:c.T370C:p.W124R;	0.0103071878099052	0.292
18	697242	A	T	18	697242	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.T307A:p.W103R;ENOSF1:NM_202758:exon3:c.T370A:p.W124R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T307A:p.W103R;ENSG00000132199:ENST00000251101:exon3:c.T307A:p.W103R;ENSG00000132199:ENST00000581475:exon3:c.T307A:p.W103R;ENSG00000132199:ENST00000539164:exon3:c.T307A:p.W103R;ENSG00000132199:ENST00000340116:exon3:c.T370A:p.W124R;	0.0197563581749286	0.296
18	697354	A	C	18	697354	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon3:c.T195G:p.V65V;ENOSF1:NM_202758:exon3:c.T258G:p.V86V;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T195G:p.V65V;ENSG00000132199:ENST00000251101:exon3:c.T195G:p.V65V;ENSG00000132199:ENST00000581475:exon3:c.T195G:p.V65V;ENSG00000132199:ENST00000539164:exon3:c.T195G:p.V65V;ENSG00000132199:ENST00000340116:exon3:c.T258G:p.V86V;	0.00103896578238217	0.192
18	697354	A	G	18	697354	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon3:c.T195C:p.V65V;ENOSF1:NM_202758:exon3:c.T258C:p.V86V;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T195C:p.V65V;ENSG00000132199:ENST00000251101:exon3:c.T195C:p.V65V;ENSG00000132199:ENST00000581475:exon3:c.T195C:p.V65V;ENSG00000132199:ENST00000539164:exon3:c.T195C:p.V65V;ENSG00000132199:ENST00000340116:exon3:c.T258C:p.V86V;	9.80356434616231E-4	0.194
18	697354	A	T	18	697354	y	y	exonic	ENOSF1	synonymous SNV	ENOSF1:NM_017512:exon3:c.T195A:p.V65V;ENOSF1:NM_202758:exon3:c.T258A:p.V86V;	exonic	ENSG00000132199	synonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T195A:p.V65V;ENSG00000132199:ENST00000251101:exon3:c.T195A:p.V65V;ENSG00000132199:ENST00000581475:exon3:c.T195A:p.V65V;ENSG00000132199:ENST00000539164:exon3:c.T195A:p.V65V;ENSG00000132199:ENST00000340116:exon3:c.T258A:p.V86V;	0.0322115636297463	0.23
18	697355	A	C	18	697355	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.T194G:p.V65G;ENOSF1:NM_202758:exon3:c.T257G:p.V86G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T194G:p.V65G;ENSG00000132199:ENST00000251101:exon3:c.T194G:p.V65G;ENSG00000132199:ENST00000581475:exon3:c.T194G:p.V65G;ENSG00000132199:ENST00000539164:exon3:c.T194G:p.V65G;ENSG00000132199:ENST00000340116:exon3:c.T257G:p.V86G;	0.0200856319393478	0.31
18	697355	A	G	18	697355	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.T194C:p.V65A;ENOSF1:NM_202758:exon3:c.T257C:p.V86A;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T194C:p.V65A;ENSG00000132199:ENST00000251101:exon3:c.T194C:p.V65A;ENSG00000132199:ENST00000581475:exon3:c.T194C:p.V65A;ENSG00000132199:ENST00000539164:exon3:c.T194C:p.V65A;ENSG00000132199:ENST00000340116:exon3:c.T257C:p.V86A;	0.00732508801971147	0.102
18	697355	A	T	18	697355	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon3:c.T194A:p.V65D;ENOSF1:NM_202758:exon3:c.T257A:p.V86D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon3:c.T194A:p.V65D;ENSG00000132199:ENST00000251101:exon3:c.T194A:p.V65D;ENSG00000132199:ENST00000581475:exon3:c.T194A:p.V65D;ENSG00000132199:ENST00000539164:exon3:c.T194A:p.V65D;ENSG00000132199:ENST00000340116:exon3:c.T257A:p.V86D;	0.014348264923452	0.278
18	697356	C	A	18	697356	y	y	splicing	ENOSF1(NM_017512:exon4:c.194-1G>T;NM_202758:exon4:c.257-1G>T)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.194-1G>T;ENST00000581475:exon4:c.194-1G>T;ENST00000340116:exon4:c.257-1G>T;ENST00000584453:exon4:c.194-1G>T;ENST00000539164:exon4:c.194-1G>T)	.	.	0.999923477186139	0.874
18	697356	C	G	18	697356	y	y	splicing	ENOSF1(NM_017512:exon4:c.194-1G>C;NM_202758:exon4:c.257-1G>C)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.194-1G>C;ENST00000581475:exon4:c.194-1G>C;ENST00000340116:exon4:c.257-1G>C;ENST00000584453:exon4:c.194-1G>C;ENST00000539164:exon4:c.194-1G>C)	.	.	0.999924614727636	0.872
18	697356	C	T	18	697356	y	y	splicing	ENOSF1(NM_017512:exon4:c.194-1G>A;NM_202758:exon4:c.257-1G>A)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.194-1G>A;ENST00000581475:exon4:c.194-1G>A;ENST00000340116:exon4:c.257-1G>A;ENST00000584453:exon4:c.194-1G>A;ENST00000539164:exon4:c.194-1G>A)	.	.	0.999923477186139	0.884
18	697357	T	A	18	697357	y	y	splicing	ENOSF1(NM_017512:exon4:c.194-2A>T;NM_202758:exon4:c.257-2A>T)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.194-2A>T;ENST00000581475:exon4:c.194-2A>T;ENST00000340116:exon4:c.257-2A>T;ENST00000584453:exon4:c.194-2A>T;ENST00000539164:exon4:c.194-2A>T)	.	.	0.999928357619501	0.812
18	697357	T	C	18	697357	y	y	splicing	ENOSF1(NM_017512:exon4:c.194-2A>G;NM_202758:exon4:c.257-2A>G)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.194-2A>G;ENST00000581475:exon4:c.194-2A>G;ENST00000340116:exon4:c.257-2A>G;ENST00000584453:exon4:c.194-2A>G;ENST00000539164:exon4:c.194-2A>G)	.	.	0.999928357619501	0.776
18	697357	T	G	18	697357	y	y	splicing	ENOSF1(NM_017512:exon4:c.194-2A>C;NM_202758:exon4:c.257-2A>C)	.	.	splicing	ENSG00000132199(ENST00000251101:exon4:c.194-2A>C;ENST00000581475:exon4:c.194-2A>C;ENST00000340116:exon4:c.257-2A>C;ENST00000584453:exon4:c.194-2A>C;ENST00000539164:exon4:c.194-2A>C)	.	.	0.999928357619501	0.776
18	697358	A	C	18	697358	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.692537382934079	0.556
18	697358	A	G	18	697358	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.26299119612719E-5	0.018
18	697358	A	T	18	697358	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0104287237783833	0.22
18	697359	T	A	18	697359	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00149225962665889	0.046
18	697359	T	C	18	697359	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999712366215768	0.986
18	697359	T	G	18	697359	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.83478737609697E-5	0.016
18	697360	T	A	18	697360	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.01081346339021E-5	0.16
18	697360	T	C	18	697360	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.998873957703465	0.98
18	697360	T	G	18	697360	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.71468372343227E-5	0.032
18	697361	T	A	18	697361	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.06481237244302E-5	0.0
18	697361	T	C	18	697361	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.27026496586214E-5	0.002
18	697361	T	G	18	697361	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.80402000964326E-5	0.0
18	697362	A	C	18	697362	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.012510420233142	0.234
18	697362	A	G	18	697362	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.01476781457507E-5	0.012
18	697362	A	T	18	697362	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.644731337362455	0.526
18	697363	A	C	18	697363	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.027088116043262	0.416
18	697363	A	G	18	697363	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.8868637221344E-5	0.058
18	697363	A	T	18	697363	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0217884125380047	0.354
18	697364	A	C	18	697364	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.573309852300431	0.468
18	697364	A	G	18	697364	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.50425876476809E-4	0.038
18	697364	A	T	18	697364	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0171454674787024	0.328
18	697365	A	C	18	697365	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00707418855479398	0.398
18	697365	A	G	18	697365	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.96213049376085E-4	0.112
18	697365	A	T	18	697365	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.310036128917796	0.37
18	697366	A	C	18	697366	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.16090054174872	0.516
18	697366	A	G	18	697366	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0264274551834317	0.342
18	697366	A	T	18	697366	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.656251810624322	0.616
18	697367	G	A	18	697367	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	9.75780247514502E-5	0.004
18	697367	G	C	18	697367	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00267630264063906	0.074
18	697367	G	T	18	697367	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0026506958362002	0.092
18	706462	C	A	18	706462	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	4.04944171333801E-5	0.0
18	706462	C	G	18	706462	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.79227736674766E-5	0.0
18	706462	C	T	18	706462	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.25242910908002E-5	0.0
18	706463	A	C	18	706463	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.24352167067539E-5	0.004
18	706463	A	G	18	706463	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.24352167067539E-5	0.002
18	706463	A	T	18	706463	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.24352167067539E-5	0.0
18	706464	A	C	18	706464	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0353513147535471	0.35
18	706464	A	G	18	706464	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.0658863196555813	0.276
18	706464	A	T	18	706464	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.537695642200297	0.416
18	706465	C	A	18	706465	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999975461227586	0.888
18	706465	C	G	18	706465	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999969300202273	0.962
18	706465	C	T	18	706465	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.99996314778931	0.956
18	706466	T	A	18	706466	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.977999709078638	0.806
18	706466	T	C	18	706466	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.853238304356744	0.674
18	706466	T	G	18	706466	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.815898260527809	0.734
18	706467	C	A	18	706467	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.984534188529982	0.626
18	706467	C	G	18	706467	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.988424194493151	0.714
18	706467	C	T	18	706467	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.67873329520541E-4	0.006
18	706468	A	C	18	706468	y	y	splicing	ENOSF1(NM_001126123:exon3:c.63+2T>G;NM_017512:exon3:c.193+2T>G;NM_202758:exon3:c.256+2T>G)	.	.	splicing	ENSG00000132199(ENST00000383578:exon3:c.63+2T>G;ENST00000251101:exon3:c.193+2T>G;ENST00000581475:exon3:c.193+2T>G;ENST00000340116:exon3:c.256+2T>G;ENST00000580982:exon3:c.193+2T>G;ENST00000585128:exon3:c.129+2T>G;ENST00000584453:exon3:c.193+2T>G;ENST00000539164:exon3:c.193+2T>G)	.	.	0.999946188727699	0.942
18	706468	A	G	18	706468	y	y	splicing	ENOSF1(NM_001126123:exon3:c.63+2T>C;NM_017512:exon3:c.193+2T>C;NM_202758:exon3:c.256+2T>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon3:c.63+2T>C;ENST00000251101:exon3:c.193+2T>C;ENST00000581475:exon3:c.193+2T>C;ENST00000340116:exon3:c.256+2T>C;ENST00000580982:exon3:c.193+2T>C;ENST00000585128:exon3:c.129+2T>C;ENST00000584453:exon3:c.193+2T>C;ENST00000539164:exon3:c.193+2T>C)	.	.	0.999721011602728	0.904
18	706468	A	T	18	706468	y	y	splicing	ENOSF1(NM_001126123:exon3:c.63+2T>A;NM_017512:exon3:c.193+2T>A;NM_202758:exon3:c.256+2T>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon3:c.63+2T>A;ENST00000251101:exon3:c.193+2T>A;ENST00000581475:exon3:c.193+2T>A;ENST00000340116:exon3:c.256+2T>A;ENST00000580982:exon3:c.193+2T>A;ENST00000585128:exon3:c.129+2T>A;ENST00000584453:exon3:c.193+2T>A;ENST00000539164:exon3:c.193+2T>A)	.	.	0.999946188727699	0.946
18	706469	C	A	18	706469	y	y	splicing	ENOSF1(NM_001126123:exon3:c.63+1G>T;NM_017512:exon3:c.193+1G>T;NM_202758:exon3:c.256+1G>T)	.	.	splicing	ENSG00000132199(ENST00000383578:exon3:c.63+1G>T;ENST00000251101:exon3:c.193+1G>T;ENST00000581475:exon3:c.193+1G>T;ENST00000340116:exon3:c.256+1G>T;ENST00000580982:exon3:c.193+1G>T;ENST00000585128:exon3:c.129+1G>T;ENST00000584453:exon3:c.193+1G>T;ENST00000539164:exon3:c.193+1G>T)	.	.	0.999972764985608	0.938
18	706469	C	G	18	706469	y	y	splicing	ENOSF1(NM_001126123:exon3:c.63+1G>C;NM_017512:exon3:c.193+1G>C;NM_202758:exon3:c.256+1G>C)	.	.	splicing	ENSG00000132199(ENST00000383578:exon3:c.63+1G>C;ENST00000251101:exon3:c.193+1G>C;ENST00000581475:exon3:c.193+1G>C;ENST00000340116:exon3:c.256+1G>C;ENST00000580982:exon3:c.193+1G>C;ENST00000585128:exon3:c.129+1G>C;ENST00000584453:exon3:c.193+1G>C;ENST00000539164:exon3:c.193+1G>C)	.	.	0.999972764985608	0.938
18	706469	C	T	18	706469	y	y	splicing	ENOSF1(NM_001126123:exon3:c.63+1G>A;NM_017512:exon3:c.193+1G>A;NM_202758:exon3:c.256+1G>A)	.	.	splicing	ENSG00000132199(ENST00000383578:exon3:c.63+1G>A;ENST00000251101:exon3:c.193+1G>A;ENST00000581475:exon3:c.193+1G>A;ENST00000340116:exon3:c.256+1G>A;ENST00000580982:exon3:c.193+1G>A;ENST00000585128:exon3:c.129+1G>A;ENST00000584453:exon3:c.193+1G>A;ENST00000539164:exon3:c.193+1G>A)	.	.	0.99997771086178	0.94
18	706470	C	A	18	706470	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.G193T:p.V65F;ENOSF1:NM_001126123:exon2:c.G63T:p.L21F;ENOSF1:NM_202758:exon2:c.G256T:p.V86F;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.G193T:p.V65F;ENSG00000132199:ENST00000251101:exon2:c.G193T:p.V65F;ENSG00000132199:ENST00000581475:exon2:c.G193T:p.V65F;ENSG00000132199:ENST00000383578:exon2:c.G63T:p.L21F;ENSG00000132199:ENST00000539164:exon2:c.G193T:p.V65F;ENSG00000132199:ENST00000580982:exon2:c.G193T:p.D65Y;ENSG00000132199:ENST00000340116:exon2:c.G256T:p.V86F;	0.999775333154977	0.852
18	706470	C	G	18	706470	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.G193C:p.V65L;ENOSF1:NM_001126123:exon2:c.G63C:p.L21F;ENOSF1:NM_202758:exon2:c.G256C:p.V86L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.G193C:p.V65L;ENSG00000132199:ENST00000251101:exon2:c.G193C:p.V65L;ENSG00000132199:ENST00000581475:exon2:c.G193C:p.V65L;ENSG00000132199:ENST00000383578:exon2:c.G63C:p.L21F;ENSG00000132199:ENST00000539164:exon2:c.G193C:p.V65L;ENSG00000132199:ENST00000580982:exon2:c.G193C:p.D65H;ENSG00000132199:ENST00000340116:exon2:c.G256C:p.V86L;	0.99871730106166	0.71
18	706470	C	T	18	706470	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.G193A:p.V65I;ENOSF1:NM_202758:exon2:c.G256A:p.V86I;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.G193A:p.V65I;ENSG00000132199:ENST00000251101:exon2:c.G193A:p.V65I;ENSG00000132199:ENST00000581475:exon2:c.G193A:p.V65I;ENSG00000132199:ENST00000539164:exon2:c.G193A:p.V65I;ENSG00000132199:ENST00000580982:exon2:c.G193A:p.D65N;ENSG00000132199:ENST00000340116:exon2:c.G256A:p.V86I;	0.99979542130649	0.994
18	706471	A	C	18	706471	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_001126123:exon2:c.T62G:p.L21W;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000383578:exon2:c.T62G:p.L21W;	9.49723470497438E-5	0.002
18	706471	A	G	18	706471	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_001126123:exon2:c.T62C:p.L21S;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000383578:exon2:c.T62C:p.L21S;	8.63743331547075E-5	0.092
18	706471	A	T	18	706471	y	y	exonic	ENOSF1	stopgain SNV	ENOSF1:NM_001126123:exon2:c.T62A:p.L21X;	exonic	ENSG00000132199	stopgain SNV	ENSG00000132199:ENST00000383578:exon2:c.T62A:p.L21X;	1.84188180788772E-4	0.244
18	706472	A	C	18	706472	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.T191G:p.V64G;ENOSF1:NM_001126123:exon2:c.T61G:p.L21V;ENOSF1:NM_202758:exon2:c.T254G:p.V85G;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.T191G:p.V64G;ENSG00000132199:ENST00000251101:exon2:c.T191G:p.V64G;ENSG00000132199:ENST00000581475:exon2:c.T191G:p.V64G;ENSG00000132199:ENST00000383578:exon2:c.T61G:p.L21V;ENSG00000132199:ENST00000539164:exon2:c.T191G:p.V64G;ENSG00000132199:ENST00000580982:exon2:c.T191G:p.V64G;ENSG00000132199:ENST00000340116:exon2:c.T254G:p.V85G;	0.0049844735777658	0.024
18	706472	A	G	18	706472	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.T191C:p.V64A;ENOSF1:NM_202758:exon2:c.T254C:p.V85A;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.T191C:p.V64A;ENSG00000132199:ENST00000251101:exon2:c.T191C:p.V64A;ENSG00000132199:ENST00000581475:exon2:c.T191C:p.V64A;ENSG00000132199:ENST00000539164:exon2:c.T191C:p.V64A;ENSG00000132199:ENST00000580982:exon2:c.T191C:p.V64A;ENSG00000132199:ENST00000340116:exon2:c.T254C:p.V85A;	0.00190818225164911	0.014
18	706472	A	T	18	706472	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.T191A:p.V64D;ENOSF1:NM_001126123:exon2:c.T61A:p.L21M;ENOSF1:NM_202758:exon2:c.T254A:p.V85D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.T191A:p.V64D;ENSG00000132199:ENST00000251101:exon2:c.T191A:p.V64D;ENSG00000132199:ENST00000581475:exon2:c.T191A:p.V64D;ENSG00000132199:ENST00000383578:exon2:c.T61A:p.L21M;ENSG00000132199:ENST00000539164:exon2:c.T191A:p.V64D;ENSG00000132199:ENST00000580982:exon2:c.T191A:p.V64D;ENSG00000132199:ENST00000340116:exon2:c.T254A:p.V85D;	0.0011391049470426	0.014
18	706577	T	A	18	706577	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.A86T:p.H29L;ENOSF1:NM_202758:exon2:c.A149T:p.H50L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.A86T:p.H29L;ENSG00000132199:ENST00000251101:exon2:c.A86T:p.H29L;ENSG00000132199:ENST00000581475:exon2:c.A86T:p.H29L;ENSG00000132199:ENST00000539164:exon2:c.A86T:p.H29L;ENSG00000132199:ENST00000580982:exon2:c.A86T:p.H29L;ENSG00000132199:ENST00000340116:exon2:c.A149T:p.H50L;	0.00204373250710808	0.032
18	706577	T	C	18	706577	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.A86G:p.H29R;ENOSF1:NM_202758:exon2:c.A149G:p.H50R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.A86G:p.H29R;ENSG00000132199:ENST00000251101:exon2:c.A86G:p.H29R;ENSG00000132199:ENST00000581475:exon2:c.A86G:p.H29R;ENSG00000132199:ENST00000539164:exon2:c.A86G:p.H29R;ENSG00000132199:ENST00000580982:exon2:c.A86G:p.H29R;ENSG00000132199:ENST00000340116:exon2:c.A149G:p.H50R;	0.00171131567939287	0.02
18	706577	T	G	18	706577	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.A86C:p.H29P;ENOSF1:NM_202758:exon2:c.A149C:p.H50P;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.A86C:p.H29P;ENSG00000132199:ENST00000251101:exon2:c.A86C:p.H29P;ENSG00000132199:ENST00000581475:exon2:c.A86C:p.H29P;ENSG00000132199:ENST00000539164:exon2:c.A86C:p.H29P;ENSG00000132199:ENST00000580982:exon2:c.A86C:p.H29P;ENSG00000132199:ENST00000340116:exon2:c.A149C:p.H50P;	0.00109676386133423	0.02
18	706578	G	A	18	706578	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.C85T:p.H29Y;ENOSF1:NM_202758:exon2:c.C148T:p.H50Y;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.C85T:p.H29Y;ENSG00000132199:ENST00000251101:exon2:c.C85T:p.H29Y;ENSG00000132199:ENST00000581475:exon2:c.C85T:p.H29Y;ENSG00000132199:ENST00000539164:exon2:c.C85T:p.H29Y;ENSG00000132199:ENST00000580982:exon2:c.C85T:p.H29Y;ENSG00000132199:ENST00000340116:exon2:c.C148T:p.H50Y;	0.0121185292262658	0.266
18	706578	G	C	18	706578	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.C85G:p.H29D;ENOSF1:NM_202758:exon2:c.C148G:p.H50D;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.C85G:p.H29D;ENSG00000132199:ENST00000251101:exon2:c.C85G:p.H29D;ENSG00000132199:ENST00000581475:exon2:c.C85G:p.H29D;ENSG00000132199:ENST00000539164:exon2:c.C85G:p.H29D;ENSG00000132199:ENST00000580982:exon2:c.C85G:p.H29D;ENSG00000132199:ENST00000340116:exon2:c.C148G:p.H50D;	0.00115536491846359	0.13
18	706578	G	T	18	706578	y	n	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_017512:exon2:c.C85A:p.H29N;ENOSF1:NM_202758:exon2:c.C148A:p.H50N;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000584453:exon2:c.C85A:p.H29N;ENSG00000132199:ENST00000251101:exon2:c.C85A:p.H29N;ENSG00000132199:ENST00000581475:exon2:c.C85A:p.H29N;ENSG00000132199:ENST00000539164:exon2:c.C85A:p.H29N;ENSG00000132199:ENST00000580982:exon2:c.C85A:p.H29N;ENSG00000132199:ENST00000340116:exon2:c.C148A:p.H50N;	0.00109460447221387	0.032
18	706579	C	A	18	706579	y	n	splicing	ENOSF1(NM_017512:exon3:c.85-1G>T;NM_202758:exon3:c.148-1G>T)	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.999977614472875	0.78
18	706579	C	G	18	706579	y	n	splicing	ENOSF1(NM_017512:exon3:c.85-1G>C;NM_202758:exon3:c.148-1G>C)	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.999982312740861	0.782
18	706579	C	T	18	706579	y	n	splicing	ENOSF1(NM_017512:exon3:c.85-1G>A;NM_202758:exon3:c.148-1G>A)	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.999977614472875	0.774
18	706580	T	A	18	706580	y	n	splicing	ENOSF1(NM_017512:exon3:c.85-2A>T;NM_202758:exon3:c.148-2A>T)	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.999980255680118	0.792
18	706580	T	C	18	706580	y	n	splicing	ENOSF1(NM_017512:exon3:c.85-2A>G;NM_202758:exon3:c.148-2A>G)	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.999984399620937	0.768
18	706580	T	G	18	706580	y	n	splicing	ENOSF1(NM_017512:exon3:c.85-2A>C;NM_202758:exon3:c.148-2A>C)	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.999980255680118	0.768
18	706581	G	A	18	706581	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.0430040601202192	0.29
18	706581	G	C	18	706581	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.999623256122903	0.686
18	706581	G	T	18	706581	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.999547502098946	0.914
18	706582	C	A	18	706582	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.00125615593809451	0.054
18	706582	C	G	18	706582	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	3.77976409890825E-4	0.058
18	706582	C	T	18	706582	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	8.93639496490886E-4	0.06
18	706583	A	C	18	706583	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.0024738560235709	0.252
18	706583	A	G	18	706583	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	2.45551205445575E-4	0.032
18	706583	A	T	18	706583	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.994511976542809	0.778
18	706584	G	A	18	706584	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	4.06667955457644E-4	0.03
18	706584	G	C	18	706584	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.0045974983195172	0.252
18	706584	G	T	18	706584	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.0105058592308476	0.24
18	706585	G	A	18	706585	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	1.41027264488525E-4	0.034
18	706585	G	C	18	706585	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.110837198665811	0.116
18	706585	G	T	18	706585	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.104047494343179	0.138
18	706586	A	C	18	706586	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.00110876662778148	0.228
18	706586	A	G	18	706586	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	3.73864813200183E-5	0.026
18	706586	A	T	18	706586	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.00101641662870544	0.182
18	706587	G	A	18	706587	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	1.72500162375589E-5	0.0
18	706587	G	C	18	706587	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	1.44568895469292E-4	0.048
18	706587	G	T	18	706587	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	8.36114707357564E-5	0.04
18	706588	A	C	18	706588	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.0662728538501716	0.316
18	706588	A	G	18	706588	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.007438353056086	0.172
18	706588	A	T	18	706588	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	0.130333756825001	0.394
18	706589	A	C	18	706589	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	2.53061886981019E-4	0.12
18	706589	A	G	18	706589	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	3.91242298949236E-4	0.108
18	706589	A	T	18	706589	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	7.46968511106463E-4	0.17
18	706590	G	A	18	706590	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	2.30718947637959E-5	0.0
18	706590	G	C	18	706590	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	2.2716362337494E-4	0.078
18	706590	G	T	18	706590	y	n	intronic	ENOSF1	.	.	ncRNA_exonic	ENSG00000265490	.	.	3.31571137381537E-4	0.034
18	712352	G	A	18	712352	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.21173041937557E-4	0.004
18	712352	G	C	18	712352	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.41992897612823E-4	0.07
18	712352	G	T	18	712352	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.92496972969888E-4	0.008
18	712353	C	A	18	712353	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	1.10916628986756E-4	0.0
18	712353	C	G	18	712353	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.26798988603892E-5	0.004
18	712353	C	T	18	712353	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	5.06655134037928E-5	0.0
18	712354	G	A	18	712354	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	7.18434825656509E-5	0.004
18	712354	G	C	18	712354	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	8.91064254674807E-5	0.008
18	712354	G	T	18	712354	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	3.52454186324023E-4	0.006
18	712355	C	A	18	712355	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999853223671988	0.86
18	712355	C	G	18	712355	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999858855728878	0.836
18	712355	C	T	18	712355	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999333654589486	0.856
18	712356	G	A	18	712356	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00127286487337726	0.082
18	712356	G	C	18	712356	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	6.79724897139177E-4	0.038
18	712356	G	T	18	712356	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	2.52787794985406E-4	0.024
18	712357	T	A	18	712357	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.996989474895105	0.73
18	712357	T	C	18	712357	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.00955453810512322	0.086
18	712357	T	G	18	712357	y	y	intronic	ENOSF1	.	.	intronic	ENSG00000132199	.	.	0.999527591640529	0.75
18	712358	A	C	18	712358	y	y	splicing	ENOSF1(NM_202758:exon2:c.147+2T>G)	.	.	splicing	ENSG00000132199(ENST00000340116:exon2:c.147+2T>G)	.	.	0.999972523838432	0.686
18	712358	A	G	18	712358	y	y	splicing	ENOSF1(NM_202758:exon2:c.147+2T>C)	.	.	splicing	ENSG00000132199(ENST00000340116:exon2:c.147+2T>C)	.	.	0.992768006060411	0.626
18	712358	A	T	18	712358	y	y	splicing	ENOSF1(NM_202758:exon2:c.147+2T>A)	.	.	splicing	ENSG00000132199(ENST00000340116:exon2:c.147+2T>A)	.	.	0.999972523838432	0.69
18	712359	C	A	18	712359	y	y	splicing	ENOSF1(NM_202758:exon2:c.147+1G>T)	.	.	splicing	ENSG00000132199(ENST00000340116:exon2:c.147+1G>T)	.	.	0.999964909606509	0.672
18	712359	C	G	18	712359	y	y	splicing	ENOSF1(NM_202758:exon2:c.147+1G>C)	.	.	splicing	ENSG00000132199(ENST00000340116:exon2:c.147+1G>C)	.	.	0.999964909606509	0.664
18	712359	C	T	18	712359	y	y	splicing	ENOSF1(NM_202758:exon2:c.147+1G>A)	.	.	splicing	ENSG00000132199(ENST00000340116:exon2:c.147+1G>A)	.	.	0.999964909606509	0.678
18	712360	C	A	18	712360	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.G147T:p.M49I;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.G147T:p.M49I;	0.999341798821908	0.892
18	712360	C	G	18	712360	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.G147C:p.M49I;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.G147C:p.M49I;	0.999878007296426	0.858
18	712360	C	T	18	712360	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.G147A:p.M49I;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.G147A:p.M49I;	0.999603024593695	0.914
18	712361	A	C	18	712361	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.T146G:p.M49R;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.T146G:p.M49R;	0.00229763027010779	0.078
18	712361	A	G	18	712361	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.T146C:p.M49T;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.T146C:p.M49T;	1.50902709875583E-4	0.024
18	712361	A	T	18	712361	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.T146A:p.M49K;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.T146A:p.M49K;	5.63984048770118E-5	0.104
18	712362	T	A	18	712362	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.A145T:p.M49L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.A145T:p.M49L;	0.00618974265484061	0.302
18	712362	T	C	18	712362	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.A145G:p.M49V;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.A145G:p.M49V;	0.00182519948406723	0.088
18	712362	T	G	18	712362	y	y	exonic	ENOSF1	nonsynonymous SNV	ENOSF1:NM_202758:exon1:c.A145C:p.M49L;	exonic	ENSG00000132199	nonsynonymous SNV	ENSG00000132199:ENST00000340116:exon1:c.A145C:p.M49L;	4.50617030235248E-4	0.006
18	724631	A	C	18	724631	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon12:c.T1425G:p.G475G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon12:c.T1425G:p.G475G;ENSG00000176105:ENST00000314574:exon12:c.T1425G:p.G475G;ENSG00000176105:ENST00000577961:exon12:c.T1440G:p.G480G;	0.00203121876243787	0.032
18	724631	A	G	18	724631	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon12:c.T1425C:p.G475G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon12:c.T1425C:p.G475G;ENSG00000176105:ENST00000314574:exon12:c.T1425C:p.G475G;ENSG00000176105:ENST00000577961:exon12:c.T1440C:p.G480G;	0.00119177250477496	0.062
18	724631	A	T	18	724631	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon12:c.T1425A:p.G475G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon12:c.T1425A:p.G475G;ENSG00000176105:ENST00000314574:exon12:c.T1425A:p.G475G;ENSG00000176105:ENST00000577961:exon12:c.T1440A:p.G480G;	0.00204804450668846	0.042
18	724632	C	A	18	724632	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon12:c.G1424T:p.G475V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon12:c.G1424T:p.G475V;ENSG00000176105:ENST00000314574:exon12:c.G1424T:p.G475V;ENSG00000176105:ENST00000577961:exon12:c.G1439T:p.G480V;	0.999800080152096	0.994
18	724632	C	G	18	724632	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon12:c.G1424C:p.G475A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon12:c.G1424C:p.G475A;ENSG00000176105:ENST00000314574:exon12:c.G1424C:p.G475A;ENSG00000176105:ENST00000577961:exon12:c.G1439C:p.G480A;	0.999864454052174	0.96
18	724632	C	T	18	724632	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon12:c.G1424A:p.G475D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon12:c.G1424A:p.G475D;ENSG00000176105:ENST00000314574:exon12:c.G1424A:p.G475D;ENSG00000176105:ENST00000577961:exon12:c.G1439A:p.G480D;	0.99978669095962	0.98
18	724633	C	A	18	724633	y	y	splicing	YES1(NM_005433:exon13:c.1424-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon13:c.1424-1G>T;ENST00000577961:exon13:c.1439-1G>T;ENST00000314574:exon13:c.1424-1G>T)	.	.	0.999938422912956	0.936
18	724633	C	G	18	724633	y	y	splicing	YES1(NM_005433:exon13:c.1424-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon13:c.1424-1G>C;ENST00000577961:exon13:c.1439-1G>C;ENST00000314574:exon13:c.1424-1G>C)	.	.	0.999938422912956	0.938
18	724633	C	T	18	724633	y	y	splicing	YES1(NM_005433:exon13:c.1424-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon13:c.1424-1G>A;ENST00000577961:exon13:c.1439-1G>A;ENST00000314574:exon13:c.1424-1G>A)	.	.	0.999938422912956	0.936
18	724634	T	A	18	724634	y	y	splicing	YES1(NM_005433:exon13:c.1424-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon13:c.1424-2A>T;ENST00000577961:exon13:c.1439-2A>T;ENST00000314574:exon13:c.1424-2A>T)	.	.	0.999966203349492	0.944
18	724634	T	C	18	724634	y	y	splicing	YES1(NM_005433:exon13:c.1424-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon13:c.1424-2A>G;ENST00000577961:exon13:c.1439-2A>G;ENST00000314574:exon13:c.1424-2A>G)	.	.	0.999966514958823	0.944
18	724634	T	G	18	724634	y	y	splicing	YES1(NM_005433:exon13:c.1424-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon13:c.1424-2A>C;ENST00000577961:exon13:c.1439-2A>C;ENST00000314574:exon13:c.1424-2A>C)	.	.	0.999966514958823	0.944
18	724635	A	C	18	724635	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.998772203144188	0.748
18	724635	A	G	18	724635	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.1346747423709E-5	0.012
18	724635	A	T	18	724635	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0444410940311114	0.308
18	724636	A	C	18	724636	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.570915337266174	0.65
18	724636	A	G	18	724636	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.54776979842486E-5	0.0
18	724636	A	T	18	724636	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.1583907502259E-5	0.0
18	724637	T	A	18	724637	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.3501348845856E-5	0.048
18	724637	T	C	18	724637	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.83975951233165E-5	0.002
18	724637	T	G	18	724637	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.88996780716762E-5	0.0
18	724638	A	C	18	724638	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0367583652023155	0.458
18	724638	A	G	18	724638	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.94792800911627E-4	0.204
18	724638	A	T	18	724638	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00305373317582428	0.496
18	724639	C	A	18	724639	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.34174171694176E-5	0.158
18	724639	C	G	18	724639	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.34174171694176E-5	0.084
18	724639	C	T	18	724639	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.52431052719182E-5	0.066
18	724640	A	C	18	724640	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0146832221158999	0.378
18	724640	A	G	18	724640	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.35164394728677E-5	0.08
18	724640	A	T	18	724640	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.998993272149085	0.684
18	724641	C	A	18	724641	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.88139517848378E-5	0.03
18	724641	C	G	18	724641	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.7492435349774E-5	0.04
18	724641	C	T	18	724641	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.26724569299795E-5	0.01
18	724642	A	C	18	724642	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0419903695823986	0.42
18	724642	A	G	18	724642	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.24440668349583E-4	0.042
18	724642	A	T	18	724642	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999852546707208	0.964
18	724643	A	C	18	724643	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0453631188588635	0.576
18	724643	A	G	18	724643	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.10246613660703E-4	0.216
18	724643	A	T	18	724643	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.235130737862642	0.504
18	724644	G	A	18	724644	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.01980950654683E-5	0.026
18	724644	G	C	18	724644	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.75952585101571E-5	0.024
18	724644	G	T	18	724644	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.58892436116995E-5	0.01
18	732826	A	C	18	732826	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.2315363797163E-5	0.0
18	732826	A	G	18	732826	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.2315363797163E-5	0.0
18	732826	A	T	18	732826	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.13555637121018E-4	0.0
18	732827	A	C	18	732827	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.48958040212133E-5	0.0
18	732827	A	G	18	732827	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.40945665935611E-5	0.0
18	732827	A	T	18	732827	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.53218662347944E-5	0.0
18	732828	G	A	18	732828	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.77306795518136E-5	0.016
18	732828	G	C	18	732828	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.89107739563015E-5	0.044
18	732828	G	T	18	732828	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.74849292636639E-5	0.008
18	732829	C	A	18	732829	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.871239936089794	0.532
18	732829	C	G	18	732829	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.596132104235202	0.41
18	732829	C	T	18	732829	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.792401121635522	0.424
18	732830	T	A	18	732830	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.195147225420872	0.38
18	732830	T	C	18	732830	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0605975125512229	0.382
18	732830	T	G	18	732830	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0584471626951226	0.378
18	732831	T	A	18	732831	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.898559146499435	0.552
18	732831	T	C	18	732831	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.80353561610665E-4	0.02
18	732831	T	G	18	732831	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.848061301712576	0.626
18	732832	A	C	18	732832	y	y	splicing	YES1(NM_005433:exon12:c.1423+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1423+2T>G;ENST00000577961:exon12:c.1438+2T>G;ENST00000314574:exon12:c.1423+2T>G)	.	.	0.999976368862214	0.926
18	732832	A	G	18	732832	y	y	splicing	YES1(NM_005433:exon12:c.1423+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1423+2T>C;ENST00000577961:exon12:c.1438+2T>C;ENST00000314574:exon12:c.1423+2T>C)	.	.	0.97615748439445	0.566
18	732832	A	T	18	732832	y	y	splicing	YES1(NM_005433:exon12:c.1423+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1423+2T>A;ENST00000577961:exon12:c.1438+2T>A;ENST00000314574:exon12:c.1423+2T>A)	.	.	0.999981808176352	0.924
18	732833	C	A	18	732833	y	y	splicing	YES1(NM_005433:exon12:c.1423+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1423+1G>T;ENST00000577961:exon12:c.1438+1G>T;ENST00000314574:exon12:c.1423+1G>T)	.	.	0.999986675681007	0.936
18	732833	C	G	18	732833	y	y	splicing	YES1(NM_005433:exon12:c.1423+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1423+1G>C;ENST00000577961:exon12:c.1438+1G>C;ENST00000314574:exon12:c.1423+1G>C)	.	.	0.999986675681007	0.936
18	732833	C	T	18	732833	y	y	splicing	YES1(NM_005433:exon12:c.1423+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1423+1G>A;ENST00000577961:exon12:c.1438+1G>A;ENST00000314574:exon12:c.1423+1G>A)	.	.	0.999986675681007	0.936
18	732834	C	A	18	732834	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.G1423T:p.G475C;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.G1423T:p.G475C;ENSG00000176105:ENST00000314574:exon11:c.G1423T:p.G475C;ENSG00000176105:ENST00000577961:exon11:c.G1438T:p.G480C;	0.998419496016626	0.95
18	732834	C	G	18	732834	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.G1423C:p.G475R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.G1423C:p.G475R;ENSG00000176105:ENST00000314574:exon11:c.G1423C:p.G475R;ENSG00000176105:ENST00000577961:exon11:c.G1438C:p.G480R;	0.997379012118132	0.906
18	732834	C	T	18	732834	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.G1423A:p.G475S;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.G1423A:p.G475S;ENSG00000176105:ENST00000314574:exon11:c.G1423A:p.G475S;ENSG00000176105:ENST00000577961:exon11:c.G1438A:p.G480S;	0.997750502391486	0.9
18	732835	T	A	18	732835	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon11:c.A1422T:p.P474P;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.A1422T:p.P474P;ENSG00000176105:ENST00000314574:exon11:c.A1422T:p.P474P;ENSG00000176105:ENST00000577961:exon11:c.A1437T:p.P479P;	0.856078922355666	0.522
18	732835	T	C	18	732835	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon11:c.A1422G:p.P474P;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.A1422G:p.P474P;ENSG00000176105:ENST00000314574:exon11:c.A1422G:p.P474P;ENSG00000176105:ENST00000577961:exon11:c.A1437G:p.P479P;	0.866053775911007	0.616
18	732835	T	G	18	732835	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon11:c.A1422C:p.P474P;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.A1422C:p.P474P;ENSG00000176105:ENST00000314574:exon11:c.A1422C:p.P474P;ENSG00000176105:ENST00000577961:exon11:c.A1437C:p.P479P;	0.699743679292189	0.66
18	732836	G	A	18	732836	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.C1421T:p.P474L;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.C1421T:p.P474L;ENSG00000176105:ENST00000314574:exon11:c.C1421T:p.P474L;ENSG00000176105:ENST00000577961:exon11:c.C1436T:p.P479L;	0.971107223023266	0.746
18	732836	G	C	18	732836	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.C1421G:p.P474R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.C1421G:p.P474R;ENSG00000176105:ENST00000314574:exon11:c.C1421G:p.P474R;ENSG00000176105:ENST00000577961:exon11:c.C1436G:p.P479R;	0.631140261963795	0.538
18	732836	G	T	18	732836	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.C1421A:p.P474Q;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.C1421A:p.P474Q;ENSG00000176105:ENST00000314574:exon11:c.C1421A:p.P474Q;ENSG00000176105:ENST00000577961:exon11:c.C1436A:p.P479Q;	0.754906164846038	0.772
18	732964	A	C	18	732964	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon11:c.T1293G:p.G431G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.T1293G:p.G431G;ENSG00000176105:ENST00000314574:exon11:c.T1293G:p.G431G;ENSG00000176105:ENST00000577961:exon11:c.T1308G:p.G436G;	7.44211045079451E-4	0.154
18	732964	A	G	18	732964	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon11:c.T1293C:p.G431G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.T1293C:p.G431G;ENSG00000176105:ENST00000314574:exon11:c.T1293C:p.G431G;ENSG00000176105:ENST00000577961:exon11:c.T1308C:p.G436G;	0.00128753963884118	0.134
18	732964	A	T	18	732964	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon11:c.T1293A:p.G431G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.T1293A:p.G431G;ENSG00000176105:ENST00000314574:exon11:c.T1293A:p.G431G;ENSG00000176105:ENST00000577961:exon11:c.T1308A:p.G436G;	0.00109000424506856	0.14
18	732965	C	A	18	732965	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.G1292T:p.G431V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.G1292T:p.G431V;ENSG00000176105:ENST00000314574:exon11:c.G1292T:p.G431V;ENSG00000176105:ENST00000577961:exon11:c.G1307T:p.G436V;	0.999916338304265	0.994
18	732965	C	G	18	732965	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.G1292C:p.G431A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.G1292C:p.G431A;ENSG00000176105:ENST00000314574:exon11:c.G1292C:p.G431A;ENSG00000176105:ENST00000577961:exon11:c.G1307C:p.G436A;	0.999870870502288	0.97
18	732965	C	T	18	732965	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon11:c.G1292A:p.G431D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon11:c.G1292A:p.G431D;ENSG00000176105:ENST00000314574:exon11:c.G1292A:p.G431D;ENSG00000176105:ENST00000577961:exon11:c.G1307A:p.G436D;	0.99813675913022	0.918
18	732966	C	A	18	732966	y	y	splicing	YES1(NM_005433:exon12:c.1292-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1292-1G>T;ENST00000577961:exon12:c.1307-1G>T;ENST00000314574:exon12:c.1292-1G>T)	.	.	0.999973077603061	0.94
18	732966	C	G	18	732966	y	y	splicing	YES1(NM_005433:exon12:c.1292-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1292-1G>C;ENST00000577961:exon12:c.1307-1G>C;ENST00000314574:exon12:c.1292-1G>C)	.	.	0.999930528371628	0.938
18	732966	C	T	18	732966	y	y	splicing	YES1(NM_005433:exon12:c.1292-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1292-1G>A;ENST00000577961:exon12:c.1307-1G>A;ENST00000314574:exon12:c.1292-1G>A)	.	.	0.999973077603061	0.942
18	732967	T	A	18	732967	y	y	splicing	YES1(NM_005433:exon12:c.1292-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1292-2A>T;ENST00000577961:exon12:c.1307-2A>T;ENST00000314574:exon12:c.1292-2A>T)	.	.	0.99996311369278	0.958
18	732967	T	C	18	732967	y	y	splicing	YES1(NM_005433:exon12:c.1292-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1292-2A>G;ENST00000577961:exon12:c.1307-2A>G;ENST00000314574:exon12:c.1292-2A>G)	.	.	0.999975937512712	0.954
18	732967	T	G	18	732967	y	y	splicing	YES1(NM_005433:exon12:c.1292-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon12:c.1292-2A>C;ENST00000577961:exon12:c.1307-2A>C;ENST00000314574:exon12:c.1292-2A>C)	.	.	0.999975937512712	0.954
18	732968	A	C	18	732968	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.968286822460634	0.66
18	732968	A	G	18	732968	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.10358311944583E-4	0.05
18	732968	A	T	18	732968	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0194158407660008	0.382
18	732969	A	C	18	732969	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00152766338258622	0.072
18	732969	A	G	18	732969	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.59426385221695E-4	0.042
18	732969	A	T	18	732969	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.33355277923792E-4	0.06
18	732970	A	C	18	732970	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.75772888180283	0.556
18	732970	A	G	18	732970	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00294648760627589	0.276
18	732970	A	T	18	732970	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.75772888180283	0.556
18	732971	A	C	18	732971	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999918502728183	0.94
18	732971	A	G	18	732971	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.94714464038774E-4	0.042
18	732971	A	T	18	732971	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.115759311346741	0.532
18	732972	T	A	18	732972	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.68823535218475E-5	0.002
18	732972	T	C	18	732972	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.58128784672025E-5	0.004
18	732972	T	G	18	732972	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.23418027127759E-5	0.0
18	732973	A	C	18	732973	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0436652344022641	0.506
18	732973	A	G	18	732973	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.66942011513285E-5	0.008
18	732973	A	T	18	732973	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.033259489572454	0.296
18	732974	A	C	18	732974	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999854071069617	0.99
18	732974	A	G	18	732974	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.93980155535407E-4	0.07
18	732974	A	T	18	732974	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0203795547685032	0.496
18	732975	T	A	18	732975	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.39968265617345E-5	0.002
18	732975	T	C	18	732975	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.66759778643879E-5	0.002
18	732975	T	G	18	732975	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.06229425996977E-5	0.002
18	732976	G	A	18	732976	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.00375880986032E-5	0.0
18	732976	G	C	18	732976	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999306548682708	0.984
18	732976	G	T	18	732976	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.81204915190307E-4	0.062
18	732977	T	A	18	732977	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.41397972096066E-5	0.036
18	732977	T	C	18	732977	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999493715910387	0.988
18	732977	T	G	18	732977	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.003491576736E-5	0.01
18	736800	A	C	18	736800	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	5.25211152755068E-5	0.0
18	736800	A	G	18	736800	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	5.25211152755068E-5	0.0
18	736800	A	T	18	736800	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	7.12775538516157E-5	0.0
18	736801	A	C	18	736801	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.8022328119087E-5	0.0
18	736801	A	G	18	736801	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	3.44418252508359E-5	0.0
18	736801	A	T	18	736801	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	3.44418252508359E-5	0.002
18	736802	T	A	18	736802	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	1.82868569144983E-4	0.02
18	736802	T	C	18	736802	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.14620550943967E-5	0.0
18	736802	T	G	18	736802	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	5.26224224036488E-5	0.014
18	736803	T	A	18	736803	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	8.94961071873735E-5	0.008
18	736803	T	C	18	736803	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.96670280321972E-4	0.084
18	736803	T	G	18	736803	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.01945772128782E-4	0.026
18	736804	T	A	18	736804	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.217399565645665	0.42
18	736804	T	C	18	736804	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.194306842552644	0.422
18	736804	T	G	18	736804	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.161506703826075	0.442
18	736805	T	A	18	736805	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.99989079409716	0.908
18	736805	T	C	18	736805	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.997362261601629	0.824
18	736805	T	G	18	736805	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999926593519269	0.966
18	736806	A	C	18	736806	y	n	splicing	YES1(NM_005433:exon11:c.1291+2T>G)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999988247793601	0.926
18	736806	A	G	18	736806	y	n	splicing	YES1(NM_005433:exon11:c.1291+2T>C)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.992577803696025	0.632
18	736806	A	T	18	736806	y	n	splicing	YES1(NM_005433:exon11:c.1291+2T>A)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999988247793601	0.926
18	736807	C	A	18	736807	y	n	splicing	YES1(NM_005433:exon11:c.1291+1G>T)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999985532734767	0.938
18	736807	C	G	18	736807	y	n	splicing	YES1(NM_005433:exon11:c.1291+1G>C)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999985532734767	0.938
18	736807	C	T	18	736807	y	n	splicing	YES1(NM_005433:exon11:c.1291+1G>A)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999985532734767	0.938
18	736808	C	A	18	736808	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.G1291T:p.G431C;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.G1291T:p.G431C;ENSG00000176105:ENST00000314574:exon10:c.G1291T:p.G431C;ENSG00000176105:ENST00000577961:exon10:c.G1306T:p.G436C;	0.99999006121748	1.0
18	736808	C	G	18	736808	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.G1291C:p.G431R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.G1291C:p.G431R;ENSG00000176105:ENST00000314574:exon10:c.G1291C:p.G431R;ENSG00000176105:ENST00000577961:exon10:c.G1306C:p.G436R;	0.9999981677847	1.0
18	736808	C	T	18	736808	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.G1291A:p.G431S;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.G1291A:p.G431S;ENSG00000176105:ENST00000314574:exon10:c.G1291A:p.G431S;ENSG00000176105:ENST00000577961:exon10:c.G1306A:p.G436S;	0.999992698425672	1.0
18	736809	T	A	18	736809	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.A1290T:p.Q430H;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1290T:p.Q430H;ENSG00000176105:ENST00000314574:exon10:c.A1290T:p.Q430H;ENSG00000176105:ENST00000577961:exon10:c.A1305T:p.Q435H;	0.99991006706779	0.998
18	736809	T	C	18	736809	y	n	exonic	YES1	synonymous SNV	YES1:NM_005433:exon10:c.A1290G:p.Q430Q;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1290G:p.Q430Q;ENSG00000176105:ENST00000314574:exon10:c.A1290G:p.Q430Q;ENSG00000176105:ENST00000577961:exon10:c.A1305G:p.Q435Q;	0.999091729317665	0.992
18	736809	T	G	18	736809	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.A1290C:p.Q430H;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1290C:p.Q430H;ENSG00000176105:ENST00000314574:exon10:c.A1290C:p.Q430H;ENSG00000176105:ENST00000577961:exon10:c.A1305C:p.Q435H;	0.999566922387734	0.98
18	736810	T	A	18	736810	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.A1289T:p.Q430L;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1289T:p.Q430L;ENSG00000176105:ENST00000314574:exon10:c.A1289T:p.Q430L;ENSG00000176105:ENST00000577961:exon10:c.A1304T:p.Q435L;	0.996260984734375	0.794
18	736810	T	C	18	736810	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.A1289G:p.Q430R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1289G:p.Q430R;ENSG00000176105:ENST00000314574:exon10:c.A1289G:p.Q430R;ENSG00000176105:ENST00000577961:exon10:c.A1304G:p.Q435R;	0.308240863251094	0.506
18	736810	T	G	18	736810	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.A1289C:p.Q430P;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1289C:p.Q430P;ENSG00000176105:ENST00000314574:exon10:c.A1289C:p.Q430P;ENSG00000176105:ENST00000577961:exon10:c.A1304C:p.Q435P;	0.721944827481795	0.732
18	736960	A	C	18	736960	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.T1139G:p.I380S;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.T1139G:p.I380S;ENSG00000176105:ENST00000314574:exon10:c.T1139G:p.I380S;ENSG00000176105:ENST00000577961:exon10:c.T1154G:p.I385S;	0.148243904838526	0.534
18	736960	A	G	18	736960	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.T1139C:p.I380T;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.T1139C:p.I380T;ENSG00000176105:ENST00000314574:exon10:c.T1139C:p.I380T;ENSG00000176105:ENST00000577961:exon10:c.T1154C:p.I385T;	0.258191722221148	0.542
18	736960	A	T	18	736960	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.T1139A:p.I380N;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.T1139A:p.I380N;ENSG00000176105:ENST00000314574:exon10:c.T1139A:p.I380N;ENSG00000176105:ENST00000577961:exon10:c.T1154A:p.I385N;	0.124066116298398	0.538
18	736961	T	A	18	736961	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.A1138T:p.I380F;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1138T:p.I380F;ENSG00000176105:ENST00000314574:exon10:c.A1138T:p.I380F;ENSG00000176105:ENST00000577961:exon10:c.A1153T:p.I385F;	0.269734300885105	0.462
18	736961	T	C	18	736961	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.A1138G:p.I380V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1138G:p.I380V;ENSG00000176105:ENST00000314574:exon10:c.A1138G:p.I380V;ENSG00000176105:ENST00000577961:exon10:c.A1153G:p.I385V;	0.0194780468187223	0.346
18	736961	T	G	18	736961	y	n	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon10:c.A1138C:p.I380L;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon10:c.A1138C:p.I380L;ENSG00000176105:ENST00000314574:exon10:c.A1138C:p.I380L;ENSG00000176105:ENST00000577961:exon10:c.A1153C:p.I385L;	0.15242209458583	0.544
18	736962	C	A	18	736962	y	n	splicing	YES1(NM_005433:exon11:c.1138-1G>T)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999915710762489	0.938
18	736962	C	G	18	736962	y	n	splicing	YES1(NM_005433:exon11:c.1138-1G>C)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999915710762489	0.948
18	736962	C	T	18	736962	y	n	splicing	YES1(NM_005433:exon11:c.1138-1G>A)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999915710762489	0.93
18	736963	T	A	18	736963	y	n	splicing	YES1(NM_005433:exon11:c.1138-2A>T)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999966514958823	0.944
18	736963	T	C	18	736963	y	n	splicing	YES1(NM_005433:exon11:c.1138-2A>G)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999966514958823	0.926
18	736963	T	G	18	736963	y	n	splicing	YES1(NM_005433:exon11:c.1138-2A>C)	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.999966514958823	0.926
18	736964	T	A	18	736964	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	1.47824945222957E-4	0.02
18	736964	T	C	18	736964	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.116056295516715	0.232
18	736964	T	G	18	736964	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	5.28987316095792E-5	0.09
18	736965	G	A	18	736965	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	6.73700693947751E-6	0.0
18	736965	G	C	18	736965	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	6.73700693947751E-6	0.0
18	736965	G	T	18	736965	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	6.73700693947751E-6	0.0
18	736966	G	A	18	736966	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.11205232677625E-5	0.016
18	736966	G	C	18	736966	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	7.150830893349E-4	0.13
18	736966	G	T	18	736966	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	3.16724165182644E-4	0.132
18	736967	A	C	18	736967	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.00728560325339965	0.124
18	736967	A	G	18	736967	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	3.17111157239862E-5	0.01
18	736967	A	T	18	736967	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.00540241224062572	0.116
18	736968	A	C	18	736968	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	9.99949677924648E-4	0.064
18	736968	A	G	18	736968	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	3.40563480238896E-5	0.014
18	736968	A	T	18	736968	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	9.99949677924648E-4	0.062
18	736969	A	C	18	736969	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	1.85058430098635E-4	0.088
18	736969	A	G	18	736969	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.00988017794959E-4	0.026
18	736969	A	T	18	736969	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	7.97796075064922E-4	0.084
18	736970	G	A	18	736970	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.59312135242406E-4	0.012
18	736970	G	C	18	736970	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	5.59362094918583E-4	0.03
18	736970	G	T	18	736970	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.00252124754507258	0.06
18	736971	A	C	18	736971	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.27264155187721E-4	0.034
18	736971	A	G	18	736971	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	4.91708809327303E-5	0.0
18	736971	A	T	18	736971	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	7.44383692434674E-4	0.048
18	736972	G	A	18	736972	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	8.37831288501006E-5	0.012
18	736972	G	C	18	736972	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.30905787631627E-4	0.034
18	736972	G	T	18	736972	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	0.0022408095835975	0.098
18	736973	A	C	18	736973	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	2.89951031545928E-4	0.028
18	736973	A	G	18	736973	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	4.84576045322384E-5	0.0
18	736973	A	T	18	736973	y	n	intronic	YES1	.	.	ncRNA_exonic	ENSG00000266171	.	.	6.75081284103781E-4	0.038
18	739727	A	C	18	739727	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.91253758627846E-4	0.004
18	739727	A	G	18	739727	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.62920414030308E-4	0.006
18	739727	A	T	18	739727	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.57779337446603E-4	0.032
18	739728	C	A	18	739728	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.84551575428551E-5	0.002
18	739728	C	G	18	739728	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.96768347579357E-5	0.008
18	739728	C	T	18	739728	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.89922883103696E-5	0.0
18	739729	A	C	18	739729	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00408643778274141	0.348
18	739729	A	G	18	739729	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.013745205084691	0.28
18	739729	A	T	18	739729	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.011422623262607	0.244
18	739730	G	A	18	739730	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.0674195722302E-5	0.0
18	739730	G	C	18	739730	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.18889340470203E-5	0.012
18	739730	G	T	18	739730	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.89323902955913E-5	0.004
18	739731	A	C	18	739731	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.24236266274208E-5	0.0
18	739731	A	G	18	739731	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.94073642583137E-5	0.0
18	739731	A	T	18	739731	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.39197597097505E-5	0.018
18	739732	T	A	18	739732	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999727150581744	0.938
18	739732	T	C	18	739732	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.997349325252781	0.74
18	739732	T	G	18	739732	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999827506365534	0.944
18	739733	A	C	18	739733	y	y	splicing	YES1(NM_005433:exon10:c.1137+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1137+2T>G;ENST00000577961:exon10:c.1152+2T>G;ENST00000314574:exon10:c.1137+2T>G)	.	.	0.999966514958823	0.96
18	739733	A	G	18	739733	y	y	splicing	YES1(NM_005433:exon10:c.1137+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1137+2T>C;ENST00000577961:exon10:c.1152+2T>C;ENST00000314574:exon10:c.1137+2T>C)	.	.	0.964856879974847	0.622
18	739733	A	T	18	739733	y	y	splicing	YES1(NM_005433:exon10:c.1137+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1137+2T>A;ENST00000577961:exon10:c.1152+2T>A;ENST00000314574:exon10:c.1137+2T>A)	.	.	0.999966514958823	0.962
18	739734	C	A	18	739734	y	y	splicing	YES1(NM_005433:exon10:c.1137+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1137+1G>T;ENST00000577961:exon10:c.1152+1G>T;ENST00000314574:exon10:c.1137+1G>T)	.	.	0.999981760802075	0.954
18	739734	C	G	18	739734	y	y	splicing	YES1(NM_005433:exon10:c.1137+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1137+1G>C;ENST00000577961:exon10:c.1152+1G>C;ENST00000314574:exon10:c.1137+1G>C)	.	.	0.999981760802075	0.954
18	739734	C	T	18	739734	y	y	splicing	YES1(NM_005433:exon10:c.1137+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1137+1G>A;ENST00000577961:exon10:c.1152+1G>A;ENST00000314574:exon10:c.1137+1G>A)	.	.	0.999981760802075	0.954
18	739735	C	A	18	739735	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.G1137T:p.Q379H;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.G1137T:p.Q379H;ENSG00000176105:ENST00000314574:exon9:c.G1137T:p.Q379H;ENSG00000176105:ENST00000577961:exon9:c.G1152T:p.Q384H;	0.999980742412885	0.998
18	739735	C	G	18	739735	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.G1137C:p.Q379H;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.G1137C:p.Q379H;ENSG00000176105:ENST00000314574:exon9:c.G1137C:p.Q379H;ENSG00000176105:ENST00000577961:exon9:c.G1152C:p.Q384H;	0.999997207089851	1.0
18	739735	C	T	18	739735	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon9:c.G1137A:p.Q379Q;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.G1137A:p.Q379Q;ENSG00000176105:ENST00000314574:exon9:c.G1137A:p.Q379Q;ENSG00000176105:ENST00000577961:exon9:c.G1152A:p.Q384Q;	0.999985024107079	0.998
18	739736	T	A	18	739736	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.A1136T:p.Q379L;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.A1136T:p.Q379L;ENSG00000176105:ENST00000314574:exon9:c.A1136T:p.Q379L;ENSG00000176105:ENST00000577961:exon9:c.A1151T:p.Q384L;	0.999975224868918	0.996
18	739736	T	C	18	739736	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.A1136G:p.Q379R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.A1136G:p.Q379R;ENSG00000176105:ENST00000314574:exon9:c.A1136G:p.Q379R;ENSG00000176105:ENST00000577961:exon9:c.A1151G:p.Q384R;	0.999950634312328	1.0
18	739736	T	G	18	739736	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.A1136C:p.Q379P;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.A1136C:p.Q379P;ENSG00000176105:ENST00000314574:exon9:c.A1136C:p.Q379P;ENSG00000176105:ENST00000577961:exon9:c.A1151C:p.Q384P;	0.999945058769517	1.0
18	739737	G	A	18	739737	y	y	exonic	YES1	stopgain SNV	YES1:NM_005433:exon9:c.C1135T:p.Q379X;	exonic	ENSG00000176105	stopgain SNV	ENSG00000176105:ENST00000584307:exon9:c.C1135T:p.Q379X;ENSG00000176105:ENST00000314574:exon9:c.C1135T:p.Q379X;ENSG00000176105:ENST00000577961:exon9:c.C1150T:p.Q384X;	0.999292149885588	0.932
18	739737	G	C	18	739737	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.C1135G:p.Q379E;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.C1135G:p.Q379E;ENSG00000176105:ENST00000314574:exon9:c.C1135G:p.Q379E;ENSG00000176105:ENST00000577961:exon9:c.C1150G:p.Q384E;	0.956387402511662	0.662
18	739737	G	T	18	739737	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.C1135A:p.Q379K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.C1135A:p.Q379K;ENSG00000176105:ENST00000314574:exon9:c.C1135A:p.Q379K;ENSG00000176105:ENST00000577961:exon9:c.C1150A:p.Q384K;	0.906322032123254	0.79
18	739810	T	A	18	739810	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon9:c.A1062T:p.G354G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.A1062T:p.G354G;ENSG00000176105:ENST00000314574:exon9:c.A1062T:p.G354G;ENSG00000176105:ENST00000577961:exon9:c.A1077T:p.G359G;	2.83462448905342E-5	0.0
18	739810	T	C	18	739810	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon9:c.A1062G:p.G354G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.A1062G:p.G354G;ENSG00000176105:ENST00000314574:exon9:c.A1062G:p.G354G;ENSG00000176105:ENST00000577961:exon9:c.A1077G:p.G359G;	5.41700955873179E-5	0.016
18	739810	T	G	18	739810	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon9:c.A1062C:p.G354G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.A1062C:p.G354G;ENSG00000176105:ENST00000314574:exon9:c.A1062C:p.G354G;ENSG00000176105:ENST00000577961:exon9:c.A1077C:p.G359G;	7.13479969652219E-5	0.0
18	739811	C	A	18	739811	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.G1061T:p.G354V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.G1061T:p.G354V;ENSG00000176105:ENST00000314574:exon9:c.G1061T:p.G354V;ENSG00000176105:ENST00000577961:exon9:c.G1076T:p.G359V;	0.996504500523796	0.936
18	739811	C	G	18	739811	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.G1061C:p.G354A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.G1061C:p.G354A;ENSG00000176105:ENST00000314574:exon9:c.G1061C:p.G354A;ENSG00000176105:ENST00000577961:exon9:c.G1076C:p.G359A;	0.986838798515499	0.82
18	739811	C	T	18	739811	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon9:c.G1061A:p.G354E;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon9:c.G1061A:p.G354E;ENSG00000176105:ENST00000314574:exon9:c.G1061A:p.G354E;ENSG00000176105:ENST00000577961:exon9:c.G1076A:p.G359E;	0.663674066906669	0.516
18	739812	C	A	18	739812	y	y	splicing	YES1(NM_005433:exon10:c.1061-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1061-1G>T;ENST00000577961:exon10:c.1076-1G>T;ENST00000314574:exon10:c.1061-1G>T)	.	.	0.999985532734767	0.936
18	739812	C	G	18	739812	y	y	splicing	YES1(NM_005433:exon10:c.1061-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1061-1G>C;ENST00000577961:exon10:c.1076-1G>C;ENST00000314574:exon10:c.1061-1G>C)	.	.	0.999985532734767	0.934
18	739812	C	T	18	739812	y	y	splicing	YES1(NM_005433:exon10:c.1061-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1061-1G>A;ENST00000577961:exon10:c.1076-1G>A;ENST00000314574:exon10:c.1061-1G>A)	.	.	0.999985532734767	0.936
18	739813	T	A	18	739813	y	y	splicing	YES1(NM_005433:exon10:c.1061-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1061-2A>T;ENST00000577961:exon10:c.1076-2A>T;ENST00000314574:exon10:c.1061-2A>T)	.	.	0.999978952611685	0.928
18	739813	T	C	18	739813	y	y	splicing	YES1(NM_005433:exon10:c.1061-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1061-2A>G;ENST00000577961:exon10:c.1076-2A>G;ENST00000314574:exon10:c.1061-2A>G)	.	.	0.99994568797423	0.926
18	739813	T	G	18	739813	y	y	splicing	YES1(NM_005433:exon10:c.1061-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon10:c.1061-2A>C;ENST00000577961:exon10:c.1076-2A>C;ENST00000314574:exon10:c.1061-2A>C)	.	.	0.99994568797423	0.926
18	739814	G	A	18	739814	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.72833064339818E-4	0.018
18	739814	G	C	18	739814	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999593782689654	0.912
18	739814	G	T	18	739814	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.167198203579343	0.468
18	739815	T	A	18	739815	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.35037618379646E-4	0.002
18	739815	T	C	18	739815	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.24422058648418E-4	0.014
18	739815	T	G	18	739815	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.08338605099511E-4	0.016
18	739816	A	C	18	739816	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.227402790769594	0.372
18	739816	A	G	18	739816	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00827619610953722	0.148
18	739816	A	T	18	739816	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.16343390544484	0.404
18	739817	A	C	18	739817	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.478563127850968	0.482
18	739817	A	G	18	739817	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.89630172189932E-4	0.062
18	739817	A	T	18	739817	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.501901367066029	0.44
18	739818	C	A	18	739818	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.65965658795311E-5	0.0
18	739818	C	G	18	739818	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.65965658795311E-5	0.0
18	739818	C	T	18	739818	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.32791339072692E-4	0.0
18	739819	A	C	18	739819	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.850147869261437	0.57
18	739819	A	G	18	739819	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0154811305588351	0.102
18	739819	A	T	18	739819	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999601678979404	0.972
18	739820	G	A	18	739820	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.68500782659169E-5	0.0
18	739820	G	C	18	739820	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.64041414215942E-4	0.044
18	739820	G	T	18	739820	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.29982449581335E-4	0.068
18	739821	A	C	18	739821	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.503168719363275	0.528
18	739821	A	G	18	739821	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00291782340573112	0.072
18	739821	A	T	18	739821	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.388819343976377	0.504
18	739822	C	A	18	739822	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.80454135531654E-5	0.018
18	739822	C	G	18	739822	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.80454135531654E-5	0.006
18	739822	C	T	18	739822	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.22109822397905E-5	0.01
18	739823	A	C	18	739823	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.303802613195689	0.454
18	739823	A	G	18	739823	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.96515068653066E-4	0.012
18	739823	A	T	18	739823	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999487076711481	0.97
18	742910	A	C	18	742910	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.57868130010587E-5	0.008
18	742910	A	G	18	742910	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.92837287391842E-5	0.018
18	742910	A	T	18	742910	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.57868130010587E-5	0.008
18	742911	T	A	18	742911	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.01757952279309E-5	0.0
18	742911	T	C	18	742911	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.49367196436331E-5	0.0
18	742911	T	G	18	742911	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.98493788762376E-5	0.0
18	742912	A	C	18	742912	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.54495974280781E-4	0.232
18	742912	A	G	18	742912	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00108462490047596	0.34
18	742912	A	T	18	742912	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.32076076886652E-4	0.304
18	742913	C	A	18	742913	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.27501207413293	0.524
18	742913	C	G	18	742913	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.406776070310575	0.544
18	742913	C	T	18	742913	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.263928284902491	0.472
18	742914	A	C	18	742914	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.83147619711786E-5	0.008
18	742914	A	G	18	742914	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.15829378909874E-5	0.014
18	742914	A	T	18	742914	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.70820745613188E-5	0.064
18	742915	T	A	18	742915	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.570730398587135	0.522
18	742915	T	C	18	742915	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0429598769732442	0.476
18	742915	T	G	18	742915	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.975828862258242	0.602
18	742916	A	C	18	742916	y	y	splicing	YES1(NM_005433:exon9:c.1060+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.1060+2T>G;ENST00000577961:exon9:c.1075+2T>G;ENST00000314574:exon9:c.1060+2T>G)	.	.	0.999988247793601	0.928
18	742916	A	G	18	742916	y	y	splicing	YES1(NM_005433:exon9:c.1060+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.1060+2T>C;ENST00000577961:exon9:c.1075+2T>C;ENST00000314574:exon9:c.1060+2T>C)	.	.	0.988163425542712	0.644
18	742916	A	T	18	742916	y	y	splicing	YES1(NM_005433:exon9:c.1060+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.1060+2T>A;ENST00000577961:exon9:c.1075+2T>A;ENST00000314574:exon9:c.1060+2T>A)	.	.	0.999988247793601	0.928
18	742917	C	A	18	742917	y	y	splicing	YES1(NM_005433:exon9:c.1060+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.1060+1G>T;ENST00000577961:exon9:c.1075+1G>T;ENST00000314574:exon9:c.1060+1G>T)	.	.	0.999990361384395	0.938
18	742917	C	G	18	742917	y	y	splicing	YES1(NM_005433:exon9:c.1060+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.1060+1G>C;ENST00000577961:exon9:c.1075+1G>C;ENST00000314574:exon9:c.1060+1G>C)	.	.	0.999990361384395	0.936
18	742917	C	T	18	742917	y	y	splicing	YES1(NM_005433:exon9:c.1060+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.1060+1G>A;ENST00000577961:exon9:c.1075+1G>A;ENST00000314574:exon9:c.1060+1G>A)	.	.	0.999990361384395	0.938
18	742918	C	A	18	742918	y	y	exonic	YES1	stopgain SNV	YES1:NM_005433:exon8:c.G1060T:p.G354X;	exonic	ENSG00000176105	stopgain SNV	ENSG00000176105:ENST00000584307:exon8:c.G1060T:p.G354X;ENSG00000176105:ENST00000314574:exon8:c.G1060T:p.G354X;ENSG00000176105:ENST00000577961:exon8:c.G1075T:p.G359X;	0.999952729341043	0.936
18	742918	C	G	18	742918	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.G1060C:p.G354R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.G1060C:p.G354R;ENSG00000176105:ENST00000314574:exon8:c.G1060C:p.G354R;ENSG00000176105:ENST00000577961:exon8:c.G1075C:p.G359R;	0.999980943211734	0.98
18	742918	C	T	18	742918	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.G1060A:p.G354R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.G1060A:p.G354R;ENSG00000176105:ENST00000314574:exon8:c.G1060A:p.G354R;ENSG00000176105:ENST00000577961:exon8:c.G1075A:p.G359R;	0.999933394188671	0.956
18	742919	T	A	18	742919	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.A1059T:p.K353N;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A1059T:p.K353N;ENSG00000176105:ENST00000314574:exon8:c.A1059T:p.K353N;ENSG00000176105:ENST00000577961:exon8:c.A1074T:p.K358N;	0.417708825070283	0.594
18	742919	T	C	18	742919	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon8:c.A1059G:p.K353K;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A1059G:p.K353K;ENSG00000176105:ENST00000314574:exon8:c.A1059G:p.K353K;ENSG00000176105:ENST00000577961:exon8:c.A1074G:p.K358K;	0.766222384970182	0.602
18	742919	T	G	18	742919	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.A1059C:p.K353N;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A1059C:p.K353N;ENSG00000176105:ENST00000314574:exon8:c.A1059C:p.K353N;ENSG00000176105:ENST00000577961:exon8:c.A1074C:p.K358N;	0.557739893139956	0.6
18	742920	T	A	18	742920	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.A1058T:p.K353I;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A1058T:p.K353I;ENSG00000176105:ENST00000314574:exon8:c.A1058T:p.K353I;ENSG00000176105:ENST00000577961:exon8:c.A1073T:p.K358I;	0.966782785972706	0.586
18	742920	T	C	18	742920	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.A1058G:p.K353R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A1058G:p.K353R;ENSG00000176105:ENST00000314574:exon8:c.A1058G:p.K353R;ENSG00000176105:ENST00000577961:exon8:c.A1073G:p.K358R;	0.390438884924045	0.412
18	742920	T	G	18	742920	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.A1058C:p.K353T;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A1058C:p.K353T;ENSG00000176105:ENST00000314574:exon8:c.A1058C:p.K353T;ENSG00000176105:ENST00000577961:exon8:c.A1073C:p.K358T;	0.769543507505214	0.534
18	743096	T	A	18	743096	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon8:c.A882T:p.G294G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A882T:p.G294G;ENSG00000176105:ENST00000314574:exon8:c.A882T:p.G294G;ENSG00000176105:ENST00000577961:exon8:c.A897T:p.G299G;	3.41613391092392E-5	0.004
18	743096	T	C	18	743096	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon8:c.A882G:p.G294G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A882G:p.G294G;ENSG00000176105:ENST00000314574:exon8:c.A882G:p.G294G;ENSG00000176105:ENST00000577961:exon8:c.A897G:p.G299G;	3.19633597364319E-4	0.032
18	743096	T	G	18	743096	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon8:c.A882C:p.G294G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.A882C:p.G294G;ENSG00000176105:ENST00000314574:exon8:c.A882C:p.G294G;ENSG00000176105:ENST00000577961:exon8:c.A897C:p.G299G;	4.30434654604691E-4	0.022
18	743097	C	A	18	743097	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.G881T:p.G294V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.G881T:p.G294V;ENSG00000176105:ENST00000314574:exon8:c.G881T:p.G294V;ENSG00000176105:ENST00000577961:exon8:c.G896T:p.G299V;	0.999947004814995	0.99
18	743097	C	G	18	743097	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.G881C:p.G294A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.G881C:p.G294A;ENSG00000176105:ENST00000314574:exon8:c.G881C:p.G294A;ENSG00000176105:ENST00000577961:exon8:c.G896C:p.G299A;	0.999841731547187	0.982
18	743097	C	T	18	743097	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon8:c.G881A:p.G294E;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon8:c.G881A:p.G294E;ENSG00000176105:ENST00000314574:exon8:c.G881A:p.G294E;ENSG00000176105:ENST00000577961:exon8:c.G896A:p.G299E;	0.999022975775184	0.934
18	743098	C	A	18	743098	y	y	splicing	YES1(NM_005433:exon9:c.881-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.881-1G>T;ENST00000577961:exon9:c.896-1G>T;ENST00000314574:exon9:c.881-1G>T)	.	.	0.999981760802075	0.942
18	743098	C	G	18	743098	y	y	splicing	YES1(NM_005433:exon9:c.881-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.881-1G>C;ENST00000577961:exon9:c.896-1G>C;ENST00000314574:exon9:c.881-1G>C)	.	.	0.999981760802075	0.942
18	743098	C	T	18	743098	y	y	splicing	YES1(NM_005433:exon9:c.881-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.881-1G>A;ENST00000577961:exon9:c.896-1G>A;ENST00000314574:exon9:c.881-1G>A)	.	.	0.999981760802075	0.942
18	743099	T	A	18	743099	y	y	splicing	YES1(NM_005433:exon9:c.881-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.881-2A>T;ENST00000577961:exon9:c.896-2A>T;ENST00000314574:exon9:c.881-2A>T)	.	.	0.999989917668626	0.926
18	743099	T	C	18	743099	y	y	splicing	YES1(NM_005433:exon9:c.881-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.881-2A>G;ENST00000577961:exon9:c.896-2A>G;ENST00000314574:exon9:c.881-2A>G)	.	.	0.999989917668626	0.926
18	743099	T	G	18	743099	y	y	splicing	YES1(NM_005433:exon9:c.881-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon9:c.881-2A>C;ENST00000577961:exon9:c.896-2A>C;ENST00000314574:exon9:c.881-2A>C)	.	.	0.999989917668626	0.926
18	743100	A	C	18	743100	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.995010814403524	0.658
18	743100	A	G	18	743100	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.83849949380556E-5	0.026
18	743100	A	T	18	743100	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00855030973363598	0.282
18	743101	A	C	18	743101	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.8046199314165E-5	0.008
18	743101	A	G	18	743101	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.29630732406849E-5	0.0
18	743101	A	T	18	743101	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.25759751878937E-5	0.002
18	743102	A	C	18	743102	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.860222469484153	0.494
18	743102	A	G	18	743102	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00104317864530038	0.064
18	743102	A	T	18	743102	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.385082838847489	0.376
18	743103	G	A	18	743103	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.04983066492162E-5	0.016
18	743103	G	C	18	743103	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.25062715705663E-4	0.158
18	743103	G	T	18	743103	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.22352686515222E-4	0.062
18	743104	A	C	18	743104	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0371814194158799	0.272
18	743104	A	G	18	743104	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.02827279982609E-5	0.004
18	743104	A	T	18	743104	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.02450020263576	0.292
18	743105	A	C	18	743105	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00311911644123822	0.278
18	743105	A	G	18	743105	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.34503876290428E-4	0.018
18	743105	A	T	18	743105	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0618438965447538	0.276
18	743106	A	C	18	743106	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.997087971969752	0.952
18	743106	A	G	18	743106	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.11083424791444E-4	0.012
18	743106	A	T	18	743106	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0052186361324454	0.122
18	743107	T	A	18	743107	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.65047354028333E-5	0.0
18	743107	T	C	18	743107	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.42376614359201E-5	0.0
18	743107	T	G	18	743107	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	9.63065284904611E-6	0.0
18	743108	A	C	18	743108	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.108267751992201	0.338
18	743108	A	G	18	743108	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.76383128279273E-4	0.064
18	743108	A	T	18	743108	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.145325533407018	0.352
18	743109	A	C	18	743109	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.229638782854436	0.47
18	743109	A	G	18	743109	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.84628669394729E-4	0.074
18	743109	A	T	18	743109	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.503074605312011	0.49
18	743252	C	A	18	743252	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.39638304918414E-5	0.0
18	743252	C	G	18	743252	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.77507616438265E-5	0.0
18	743252	C	T	18	743252	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	9.22607440546209E-5	0.004
18	743253	T	A	18	743253	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.56072491953518E-4	0.03
18	743253	T	C	18	743253	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00109625285032446	0.062
18	743253	T	G	18	743253	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.49219260656367E-4	0.0
18	743254	T	A	18	743254	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.64185238227425E-5	0.008
18	743254	T	C	18	743254	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.02798133361692E-4	0.002
18	743254	T	G	18	743254	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.12158114324253E-4	0.028
18	743255	C	A	18	743255	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999251115753684	0.946
18	743255	C	G	18	743255	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999681514925856	0.984
18	743255	C	T	18	743255	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.99973495145135	0.994
18	743256	T	A	18	743256	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.998418493244922	0.95
18	743256	T	C	18	743256	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.997671216343133	0.982
18	743256	T	G	18	743256	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.998843724912322	0.954
18	743257	T	A	18	743257	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999859421707504	0.914
18	743257	T	C	18	743257	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.830194679681795	0.61
18	743257	T	G	18	743257	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999882466596039	0.924
18	743258	A	C	18	743258	y	y	splicing	YES1(NM_005433:exon8:c.880+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.880+2T>G;ENST00000577961:exon8:c.895+2T>G;ENST00000314574:exon8:c.880+2T>G)	.	.	0.999988247793601	0.93
18	743258	A	G	18	743258	y	y	splicing	YES1(NM_005433:exon8:c.880+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.880+2T>C;ENST00000577961:exon8:c.895+2T>C;ENST00000314574:exon8:c.880+2T>C)	.	.	0.99991522016916	0.886
18	743258	A	T	18	743258	y	y	splicing	YES1(NM_005433:exon8:c.880+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.880+2T>A;ENST00000577961:exon8:c.895+2T>A;ENST00000314574:exon8:c.880+2T>A)	.	.	0.999988247793601	0.93
18	743259	C	A	18	743259	y	y	splicing	YES1(NM_005433:exon8:c.880+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.880+1G>T;ENST00000577961:exon8:c.895+1G>T;ENST00000314574:exon8:c.880+1G>T)	.	.	0.999985532734767	0.938
18	743259	C	G	18	743259	y	y	splicing	YES1(NM_005433:exon8:c.880+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.880+1G>C;ENST00000577961:exon8:c.895+1G>C;ENST00000314574:exon8:c.880+1G>C)	.	.	0.999985532734767	0.938
18	743259	C	T	18	743259	y	y	splicing	YES1(NM_005433:exon8:c.880+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.880+1G>A;ENST00000577961:exon8:c.895+1G>A;ENST00000314574:exon8:c.880+1G>A)	.	.	0.999985532734767	0.938
18	743260	C	A	18	743260	y	y	exonic	YES1	stopgain SNV	YES1:NM_005433:exon7:c.G880T:p.G294X;	exonic	ENSG00000176105	stopgain SNV	ENSG00000176105:ENST00000584307:exon7:c.G880T:p.G294X;ENSG00000176105:ENST00000314574:exon7:c.G880T:p.G294X;ENSG00000176105:ENST00000577961:exon7:c.G895T:p.G299X;	0.999975373910982	0.982
18	743260	C	G	18	743260	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.G880C:p.G294R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.G880C:p.G294R;ENSG00000176105:ENST00000314574:exon7:c.G880C:p.G294R;ENSG00000176105:ENST00000577961:exon7:c.G895C:p.G299R;	0.999996119052414	0.996
18	743260	C	T	18	743260	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.G880A:p.G294R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.G880A:p.G294R;ENSG00000176105:ENST00000314574:exon7:c.G880A:p.G294R;ENSG00000176105:ENST00000577961:exon7:c.G895A:p.G299R;	0.999984179571955	1.0
18	743261	C	A	18	743261	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.G879T:p.M293I;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.G879T:p.M293I;ENSG00000176105:ENST00000314574:exon7:c.G879T:p.M293I;ENSG00000176105:ENST00000577961:exon7:c.G894T:p.M298I;	0.989519368412976	0.802
18	743261	C	G	18	743261	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.G879C:p.M293I;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.G879C:p.M293I;ENSG00000176105:ENST00000314574:exon7:c.G879C:p.M293I;ENSG00000176105:ENST00000577961:exon7:c.G894C:p.M298I;	0.966655005234971	0.812
18	743261	C	T	18	743261	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.G879A:p.M293I;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.G879A:p.M293I;ENSG00000176105:ENST00000314574:exon7:c.G879A:p.M293I;ENSG00000176105:ENST00000577961:exon7:c.G894A:p.M298I;	0.940446065271639	0.536
18	743262	A	C	18	743262	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.T878G:p.M293R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.T878G:p.M293R;ENSG00000176105:ENST00000314574:exon7:c.T878G:p.M293R;ENSG00000176105:ENST00000577961:exon7:c.T893G:p.M298R;	0.225561227004807	0.484
18	743262	A	G	18	743262	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.T878C:p.M293T;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.T878C:p.M293T;ENSG00000176105:ENST00000314574:exon7:c.T878C:p.M293T;ENSG00000176105:ENST00000577961:exon7:c.T893C:p.M298T;	0.564339561630094	0.594
18	743262	A	T	18	743262	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.T878A:p.M293K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.T878A:p.M293K;ENSG00000176105:ENST00000314574:exon7:c.T878A:p.M293K;ENSG00000176105:ENST00000577961:exon7:c.T893A:p.M298K;	0.525950672892484	0.478
18	743414	T	A	18	743414	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.A726T:p.E242D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.A726T:p.E242D;ENSG00000176105:ENST00000314574:exon7:c.A726T:p.E242D;ENSG00000176105:ENST00000577961:exon7:c.A741T:p.E247D;	1.53512424393374E-4	0.01
18	743414	T	C	18	743414	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon7:c.A726G:p.E242E;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.A726G:p.E242E;ENSG00000176105:ENST00000314574:exon7:c.A726G:p.E242E;ENSG00000176105:ENST00000577961:exon7:c.A741G:p.E247E;	3.08284779754909E-4	0.008
18	743414	T	G	18	743414	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.A726C:p.E242D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.A726C:p.E242D;ENSG00000176105:ENST00000314574:exon7:c.A726C:p.E242D;ENSG00000176105:ENST00000577961:exon7:c.A741C:p.E247D;	9.13166776830192E-4	0.026
18	743415	T	A	18	743415	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.A725T:p.E242V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.A725T:p.E242V;ENSG00000176105:ENST00000314574:exon7:c.A725T:p.E242V;ENSG00000176105:ENST00000577961:exon7:c.A740T:p.E247V;	0.82464116936654	0.446
18	743415	T	C	18	743415	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.A725G:p.E242G;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.A725G:p.E242G;ENSG00000176105:ENST00000314574:exon7:c.A725G:p.E242G;ENSG00000176105:ENST00000577961:exon7:c.A740G:p.E247G;	0.00107542712925182	0.03
18	743415	T	G	18	743415	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon7:c.A725C:p.E242A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon7:c.A725C:p.E242A;ENSG00000176105:ENST00000314574:exon7:c.A725C:p.E242A;ENSG00000176105:ENST00000577961:exon7:c.A740C:p.E247A;	0.0597055273787191	0.256
18	743416	C	A	18	743416	y	y	splicing	YES1(NM_005433:exon8:c.725-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.725-1G>T;ENST00000577961:exon8:c.740-1G>T;ENST00000314574:exon8:c.725-1G>T)	.	.	0.999962326876755	0.854
18	743416	C	G	18	743416	y	y	splicing	YES1(NM_005433:exon8:c.725-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.725-1G>C;ENST00000577961:exon8:c.740-1G>C;ENST00000314574:exon8:c.725-1G>C)	.	.	0.999962326876755	0.818
18	743416	C	T	18	743416	y	y	splicing	YES1(NM_005433:exon8:c.725-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.725-1G>A;ENST00000577961:exon8:c.740-1G>A;ENST00000314574:exon8:c.725-1G>A)	.	.	0.999969196413471	0.866
18	743417	T	A	18	743417	y	y	splicing	YES1(NM_005433:exon8:c.725-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.725-2A>T;ENST00000577961:exon8:c.740-2A>T;ENST00000314574:exon8:c.725-2A>T)	.	.	0.999977459371092	0.916
18	743417	T	C	18	743417	y	y	splicing	YES1(NM_005433:exon8:c.725-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.725-2A>G;ENST00000577961:exon8:c.740-2A>G;ENST00000314574:exon8:c.725-2A>G)	.	.	0.999978117620847	0.888
18	743417	T	G	18	743417	y	y	splicing	YES1(NM_005433:exon8:c.725-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon8:c.725-2A>C;ENST00000577961:exon8:c.740-2A>C;ENST00000314574:exon8:c.725-2A>C)	.	.	0.999978117620847	0.884
18	743418	A	C	18	743418	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.992773139812519	0.684
18	743418	A	G	18	743418	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.73905341842607E-4	0.076
18	743418	A	T	18	743418	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.933847185501988	0.636
18	743419	G	A	18	743419	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.01145706140633E-4	0.06
18	743419	G	C	18	743419	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.41279869219442E-4	0.204
18	743419	G	T	18	743419	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.26710410818405E-5	0.054
18	743420	A	C	18	743420	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.99997841312989	0.922
18	743420	A	G	18	743420	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0210863184018368	0.246
18	743420	A	T	18	743420	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.560041489954797	0.486
18	743421	T	A	18	743421	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.14977235916591E-4	0.046
18	743421	T	C	18	743421	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.14336008948637E-4	0.09
18	743421	T	G	18	743421	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.14977235916591E-4	0.046
18	743422	A	C	18	743422	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.175584003531238	0.34
18	743422	A	G	18	743422	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00117529972729268	0.064
18	743422	A	T	18	743422	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.480611365359071	0.386
18	743423	A	C	18	743423	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00289017540118175	0.242
18	743423	A	G	18	743423	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.78581803334148E-5	0.006
18	743423	A	T	18	743423	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0369437968602379	0.348
18	743424	A	C	18	743424	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999957691250495	0.952
18	743424	A	G	18	743424	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00306318937169824	0.104
18	743424	A	T	18	743424	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.501438602495516	0.486
18	743425	T	A	18	743425	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.37244950784025E-4	0.024
18	743425	T	C	18	743425	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.14113973315792E-4	0.008
18	743425	T	G	18	743425	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.55949070708798E-4	0.002
18	743426	G	A	18	743426	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.14002260237983E-5	0.0
18	743426	G	C	18	743426	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.41409174462789E-4	0.132
18	743426	G	T	18	743426	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00779174001787144	0.096
18	743427	A	C	18	743427	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.107741324691812	0.5
18	743427	A	G	18	743427	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00130548163341226	0.11
18	743427	A	T	18	743427	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.252192345309938	0.508
18	745700	T	A	18	745700	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.12429493142035E-6	0.0
18	745700	T	C	18	745700	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.57318152114276E-6	0.002
18	745700	T	G	18	745700	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.93592994461746E-6	0.004
18	745701	C	A	18	745701	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	9.54775292747445E-5	0.008
18	745701	C	G	18	745701	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.62219928245613E-5	0.012
18	745701	C	T	18	745701	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.62219928245613E-5	0.012
18	745702	A	C	18	745702	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00261986723734369	0.242
18	745702	A	G	18	745702	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0513759444477301	0.358
18	745702	A	T	18	745702	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0181150166395855	0.236
18	745703	C	A	18	745703	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.766019538740282	0.466
18	745703	C	G	18	745703	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.717676134677195	0.476
18	745703	C	T	18	745703	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.682117098256571	0.352
18	745704	A	C	18	745704	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.30524527901984E-5	0.0
18	745704	A	G	18	745704	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.17486155721189E-5	0.0
18	745704	A	T	18	745704	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.65335164743292E-5	0.024
18	745705	T	A	18	745705	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.802191027170325	0.566
18	745705	T	C	18	745705	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.120659802168962	0.486
18	745705	T	G	18	745705	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.891684033461965	0.554
18	745706	A	C	18	745706	y	y	splicing	YES1(NM_005433:exon7:c.724+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.724+2T>G;ENST00000577961:exon7:c.739+2T>G;ENST00000314574:exon7:c.724+2T>G)	.	.	0.999946188727699	0.944
18	745706	A	G	18	745706	y	y	splicing	YES1(NM_005433:exon7:c.724+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.724+2T>C;ENST00000577961:exon7:c.739+2T>C;ENST00000314574:exon7:c.724+2T>C)	.	.	0.95816645751051	0.624
18	745706	A	T	18	745706	y	y	splicing	YES1(NM_005433:exon7:c.724+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.724+2T>A;ENST00000577961:exon7:c.739+2T>A;ENST00000314574:exon7:c.724+2T>A)	.	.	0.99994568797423	0.944
18	745707	C	A	18	745707	y	y	splicing	YES1(NM_005433:exon7:c.724+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.724+1G>T;ENST00000577961:exon7:c.739+1G>T;ENST00000314574:exon7:c.724+1G>T)	.	.	0.99997771086178	0.94
18	745707	C	G	18	745707	y	y	splicing	YES1(NM_005433:exon7:c.724+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.724+1G>C;ENST00000577961:exon7:c.739+1G>C;ENST00000314574:exon7:c.724+1G>C)	.	.	0.999972764985608	0.938
18	745707	C	T	18	745707	y	y	splicing	YES1(NM_005433:exon7:c.724+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.724+1G>A;ENST00000577961:exon7:c.739+1G>A;ENST00000314574:exon7:c.724+1G>A)	.	.	0.99997771086178	0.934
18	745708	C	A	18	745708	y	y	exonic	YES1	stopgain SNV	YES1:NM_005433:exon6:c.G724T:p.E242X;	exonic	ENSG00000176105	stopgain SNV	ENSG00000176105:ENST00000584307:exon6:c.G724T:p.E242X;ENSG00000176105:ENST00000314574:exon6:c.G724T:p.E242X;ENSG00000176105:ENST00000577961:exon6:c.G739T:p.E247X;	0.999975268858396	0.996
18	745708	C	G	18	745708	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon6:c.G724C:p.E242Q;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.G724C:p.E242Q;ENSG00000176105:ENST00000314574:exon6:c.G724C:p.E242Q;ENSG00000176105:ENST00000577961:exon6:c.G739C:p.E247Q;	0.999513727537199	0.934
18	745708	C	T	18	745708	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon6:c.G724A:p.E242K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.G724A:p.E242K;ENSG00000176105:ENST00000314574:exon6:c.G724A:p.E242K;ENSG00000176105:ENST00000577961:exon6:c.G739A:p.E247K;	0.889545360054775	0.764
18	745709	T	A	18	745709	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon6:c.A723T:p.T241T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.A723T:p.T241T;ENSG00000176105:ENST00000314574:exon6:c.A723T:p.T241T;ENSG00000176105:ENST00000577961:exon6:c.A738T:p.T246T;	0.723939721217479	0.558
18	745709	T	C	18	745709	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon6:c.A723G:p.T241T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.A723G:p.T241T;ENSG00000176105:ENST00000314574:exon6:c.A723G:p.T241T;ENSG00000176105:ENST00000577961:exon6:c.A738G:p.T246T;	0.49152798096743	0.438
18	745709	T	G	18	745709	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon6:c.A723C:p.T241T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.A723C:p.T241T;ENSG00000176105:ENST00000314574:exon6:c.A723C:p.T241T;ENSG00000176105:ENST00000577961:exon6:c.A738C:p.T246T;	0.203255306190111	0.422
18	745710	G	A	18	745710	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon6:c.C722T:p.T241I;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.C722T:p.T241I;ENSG00000176105:ENST00000314574:exon6:c.C722T:p.T241I;ENSG00000176105:ENST00000577961:exon6:c.C737T:p.T246I;	0.470388354358069	0.56
18	745710	G	C	18	745710	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon6:c.C722G:p.T241R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.C722G:p.T241R;ENSG00000176105:ENST00000314574:exon6:c.C722G:p.T241R;ENSG00000176105:ENST00000577961:exon6:c.C737G:p.T246R;	0.0260547084381171	0.116
18	745710	G	T	18	745710	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon6:c.C722A:p.T241K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.C722A:p.T241K;ENSG00000176105:ENST00000314574:exon6:c.C722A:p.T241K;ENSG00000176105:ENST00000577961:exon6:c.C737A:p.T246K;	0.011146491786327	0.128
18	745856	A	C	18	745856	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon6:c.T576G:p.G192G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.T576G:p.G192G;ENSG00000176105:ENST00000314574:exon6:c.T576G:p.G192G;ENSG00000176105:ENST00000577961:exon6:c.T591G:p.G197G;	0.0912662275082451	0.19
18	745856	A	G	18	745856	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon6:c.T576C:p.G192G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.T576C:p.G192G;ENSG00000176105:ENST00000314574:exon6:c.T576C:p.G192G;ENSG00000176105:ENST00000577961:exon6:c.T591C:p.G197G;	0.137891245405001	0.194
18	745856	A	T	18	745856	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon6:c.T576A:p.G192G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.T576A:p.G192G;ENSG00000176105:ENST00000314574:exon6:c.T576A:p.G192G;ENSG00000176105:ENST00000577961:exon6:c.T591A:p.G197G;	0.117446864933059	0.192
18	745857	C	A	18	745857	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon6:c.G575T:p.G192V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.G575T:p.G192V;ENSG00000176105:ENST00000314574:exon6:c.G575T:p.G192V;ENSG00000176105:ENST00000577961:exon6:c.G590T:p.G197V;	0.999937117074767	0.996
18	745857	C	G	18	745857	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon6:c.G575C:p.G192A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.G575C:p.G192A;ENSG00000176105:ENST00000314574:exon6:c.G575C:p.G192A;ENSG00000176105:ENST00000577961:exon6:c.G590C:p.G197A;	0.999909492375311	0.968
18	745857	C	T	18	745857	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon6:c.G575A:p.G192D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon6:c.G575A:p.G192D;ENSG00000176105:ENST00000314574:exon6:c.G575A:p.G192D;ENSG00000176105:ENST00000577961:exon6:c.G590A:p.G197D;	0.999596176985667	0.924
18	745858	C	A	18	745858	y	y	splicing	YES1(NM_005433:exon7:c.575-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.575-1G>T;ENST00000577961:exon7:c.590-1G>T;ENST00000314574:exon7:c.575-1G>T)	.	.	0.99997703206973	0.926
18	745858	C	G	18	745858	y	y	splicing	YES1(NM_005433:exon7:c.575-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.575-1G>C;ENST00000577961:exon7:c.590-1G>C;ENST00000314574:exon7:c.575-1G>C)	.	.	0.99997703206973	0.928
18	745858	C	T	18	745858	y	y	splicing	YES1(NM_005433:exon7:c.575-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.575-1G>A;ENST00000577961:exon7:c.590-1G>A;ENST00000314574:exon7:c.575-1G>A)	.	.	0.999991099472728	0.926
18	745859	T	A	18	745859	y	y	splicing	YES1(NM_005433:exon7:c.575-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.575-2A>T;ENST00000577961:exon7:c.590-2A>T;ENST00000314574:exon7:c.575-2A>T)	.	.	0.99992617752697	0.928
18	745859	T	C	18	745859	y	y	splicing	YES1(NM_005433:exon7:c.575-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.575-2A>G;ENST00000577961:exon7:c.590-2A>G;ENST00000314574:exon7:c.575-2A>G)	.	.	0.99992617752697	0.928
18	745859	T	G	18	745859	y	y	splicing	YES1(NM_005433:exon7:c.575-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon7:c.575-2A>C;ENST00000577961:exon7:c.590-2A>C;ENST00000314574:exon7:c.575-2A>C)	.	.	0.99992617752697	0.928
18	745860	G	A	18	745860	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.25784790281108E-4	0.044
18	745860	G	C	18	745860	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.988287979770426	0.652
18	745860	G	T	18	745860	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.638544722229832	0.432
18	745861	G	A	18	745861	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.71212840829163E-5	0.0
18	745861	G	C	18	745861	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.77468786895242E-5	0.0
18	745861	G	T	18	745861	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.1812475067602E-5	0.0
18	745862	G	A	18	745862	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.42511390661572E-5	0.022
18	745862	G	C	18	745862	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.994292589924685	0.65
18	745862	G	T	18	745862	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.37360743132725E-4	0.088
18	745863	T	A	18	745863	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.32186368474212E-5	0.0
18	745863	T	C	18	745863	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.10229740985463E-4	0.01
18	745863	T	G	18	745863	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.63604438296231E-5	0.022
18	745864	G	A	18	745864	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.28793869478402E-5	0.022
18	745864	G	C	18	745864	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.39472589674384E-4	0.096
18	745864	G	T	18	745864	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00316281117327575	0.148
18	745865	A	C	18	745865	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00128592723946727	0.106
18	745865	A	G	18	745865	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.52891108144601E-5	0.068
18	745865	A	T	18	745865	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00276408583640421	0.194
18	745866	A	C	18	745866	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00166084014086043	0.28
18	745866	A	G	18	745866	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	9.62221823379854E-5	0.086
18	745866	A	T	18	745866	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0031311607092764	0.292
18	745867	A	C	18	745867	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00359709151052345	0.372
18	745867	A	G	18	745867	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.35479295520257E-4	0.046
18	745867	A	T	18	745867	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0433698481476864	0.382
18	745868	A	C	18	745868	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.179059390081879	0.408
18	745868	A	G	18	745868	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.51574561204007E-4	0.116
18	745868	A	T	18	745868	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0529766227557936	0.368
18	745869	A	C	18	745869	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.99968031840388	0.966
18	745869	A	G	18	745869	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.32812906067771E-4	0.06
18	745869	A	T	18	745869	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00560898208282313	0.402
18	745940	A	C	18	745940	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.42336761751512E-5	0.002
18	745940	A	G	18	745940	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.18843264719335E-5	0.002
18	745940	A	T	18	745940	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.99521185273121E-5	0.004
18	745941	T	A	18	745941	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.91346887521633E-5	0.138
18	745941	T	C	18	745941	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.55025674676588E-5	0.076
18	745941	T	G	18	745941	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.55025674676588E-5	0.082
18	745942	T	A	18	745942	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.57603077702366E-5	0.026
18	745942	T	C	18	745942	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.63742615866401E-5	0.012
18	745942	T	G	18	745942	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.53850195314287E-5	0.026
18	745943	C	A	18	745943	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.923638161105866	0.5
18	745943	C	G	18	745943	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.82550307566597	0.428
18	745943	C	T	18	745943	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.307388605436678	0.398
18	745944	A	C	18	745944	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.80142415879154E-5	0.0
18	745944	A	G	18	745944	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.3142773565738E-4	0.02
18	745944	A	T	18	745944	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.84938402207423E-5	0.1
18	745945	T	A	18	745945	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.997836487128892	0.732
18	745945	T	C	18	745945	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.934523309482076	0.61
18	745945	T	G	18	745945	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.998982849573808	0.76
18	745946	A	C	18	745946	y	y	splicing	YES1(NM_005433:exon6:c.574+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.574+2T>G;ENST00000577961:exon6:c.589+2T>G;ENST00000314574:exon6:c.574+2T>G)	.	.	0.999988247793601	0.928
18	745946	A	G	18	745946	y	y	splicing	YES1(NM_005433:exon6:c.574+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.574+2T>C;ENST00000577961:exon6:c.589+2T>C;ENST00000314574:exon6:c.574+2T>C)	.	.	0.991245725732999	0.632
18	745946	A	T	18	745946	y	y	splicing	YES1(NM_005433:exon6:c.574+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.574+2T>A;ENST00000577961:exon6:c.589+2T>A;ENST00000314574:exon6:c.574+2T>A)	.	.	0.999988247793601	0.928
18	745947	C	A	18	745947	y	y	splicing	YES1(NM_005433:exon6:c.574+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.574+1G>T;ENST00000577961:exon6:c.589+1G>T;ENST00000314574:exon6:c.574+1G>T)	.	.	0.999986675681007	0.932
18	745947	C	G	18	745947	y	y	splicing	YES1(NM_005433:exon6:c.574+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.574+1G>C;ENST00000577961:exon6:c.589+1G>C;ENST00000314574:exon6:c.574+1G>C)	.	.	0.999986675681007	0.932
18	745947	C	T	18	745947	y	y	splicing	YES1(NM_005433:exon6:c.574+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.574+1G>A;ENST00000577961:exon6:c.589+1G>A;ENST00000314574:exon6:c.574+1G>A)	.	.	0.999986675681007	0.932
18	745948	C	A	18	745948	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.G574T:p.G192C;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.G574T:p.G192C;ENSG00000176105:ENST00000314574:exon5:c.G574T:p.G192C;ENSG00000176105:ENST00000577961:exon5:c.G589T:p.G197C;	0.999981956559566	0.996
18	745948	C	G	18	745948	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.G574C:p.G192R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.G574C:p.G192R;ENSG00000176105:ENST00000314574:exon5:c.G574C:p.G192R;ENSG00000176105:ENST00000577961:exon5:c.G589C:p.G197R;	0.999996849704514	0.996
18	745948	C	T	18	745948	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.G574A:p.G192S;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.G574A:p.G192S;ENSG00000176105:ENST00000314574:exon5:c.G574A:p.G192S;ENSG00000176105:ENST00000577961:exon5:c.G589A:p.G197S;	0.999991637041958	0.998
18	745949	T	A	18	745949	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.A573T:p.K191N;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A573T:p.K191N;ENSG00000176105:ENST00000314574:exon5:c.A573T:p.K191N;ENSG00000176105:ENST00000577961:exon5:c.A588T:p.K196N;	0.999685217053559	0.992
18	745949	T	C	18	745949	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon5:c.A573G:p.K191K;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A573G:p.K191K;ENSG00000176105:ENST00000314574:exon5:c.A573G:p.K191K;ENSG00000176105:ENST00000577961:exon5:c.A588G:p.K196K;	0.99857932494261	0.966
18	745949	T	G	18	745949	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.A573C:p.K191N;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A573C:p.K191N;ENSG00000176105:ENST00000314574:exon5:c.A573C:p.K191N;ENSG00000176105:ENST00000577961:exon5:c.A588C:p.K196N;	0.995475449636071	0.908
18	745950	T	A	18	745950	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.A572T:p.K191I;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A572T:p.K191I;ENSG00000176105:ENST00000314574:exon5:c.A572T:p.K191I;ENSG00000176105:ENST00000577961:exon5:c.A587T:p.K196I;	0.921542940735154	0.674
18	745950	T	C	18	745950	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.A572G:p.K191R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A572G:p.K191R;ENSG00000176105:ENST00000314574:exon5:c.A572G:p.K191R;ENSG00000176105:ENST00000577961:exon5:c.A587G:p.K196R;	0.234020286613601	0.43
18	745950	T	G	18	745950	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.A572C:p.K191T;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A572C:p.K191T;ENSG00000176105:ENST00000314574:exon5:c.A572C:p.K191T;ENSG00000176105:ENST00000577961:exon5:c.A587C:p.K196T;	0.610370808545065	0.5
18	746050	A	C	18	746050	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.T472G:p.W158G;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.T472G:p.W158G;ENSG00000176105:ENST00000314574:exon5:c.T472G:p.W158G;ENSG00000176105:ENST00000577961:exon5:c.T487G:p.W163G;	0.298949242615771	0.412
18	746050	A	G	18	746050	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.T472C:p.W158R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.T472C:p.W158R;ENSG00000176105:ENST00000314574:exon5:c.T472C:p.W158R;ENSG00000176105:ENST00000577961:exon5:c.T487C:p.W163R;	0.363766258815756	0.494
18	746050	A	T	18	746050	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.T472A:p.W158R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.T472A:p.W158R;ENSG00000176105:ENST00000314574:exon5:c.T472A:p.W158R;ENSG00000176105:ENST00000577961:exon5:c.T487A:p.W163R;	0.459859289197795	0.454
18	746051	T	A	18	746051	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.A471T:p.E157D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A471T:p.E157D;ENSG00000176105:ENST00000314574:exon5:c.A471T:p.E157D;ENSG00000176105:ENST00000577961:exon5:c.A486T:p.E162D;	0.00187557464069361	0.042
18	746051	T	C	18	746051	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon5:c.A471G:p.E157E;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A471G:p.E157E;ENSG00000176105:ENST00000314574:exon5:c.A471G:p.E157E;ENSG00000176105:ENST00000577961:exon5:c.A486G:p.E162E;	5.19936586682816E-5	0.0
18	746051	T	G	18	746051	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon5:c.A471C:p.E157D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon5:c.A471C:p.E157D;ENSG00000176105:ENST00000314574:exon5:c.A471C:p.E157D;ENSG00000176105:ENST00000577961:exon5:c.A486C:p.E162D;	0.00152055947992492	0.03
18	746052	C	A	18	746052	y	y	splicing	YES1(NM_005433:exon6:c.471-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.471-1G>T;ENST00000577961:exon6:c.486-1G>T;ENST00000314574:exon6:c.471-1G>T)	.	.	0.999986675681007	0.934
18	746052	C	G	18	746052	y	y	splicing	YES1(NM_005433:exon6:c.471-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.471-1G>C;ENST00000577961:exon6:c.486-1G>C;ENST00000314574:exon6:c.471-1G>C)	.	.	0.999986675681007	0.934
18	746052	C	T	18	746052	y	y	splicing	YES1(NM_005433:exon6:c.471-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.471-1G>A;ENST00000577961:exon6:c.486-1G>A;ENST00000314574:exon6:c.471-1G>A)	.	.	0.999986675681007	0.93
18	746053	T	A	18	746053	y	y	splicing	YES1(NM_005433:exon6:c.471-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.471-2A>T;ENST00000577961:exon6:c.486-2A>T;ENST00000314574:exon6:c.471-2A>T)	.	.	0.999951957019574	0.888
18	746053	T	C	18	746053	y	y	splicing	YES1(NM_005433:exon6:c.471-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.471-2A>G;ENST00000577961:exon6:c.486-2A>G;ENST00000314574:exon6:c.471-2A>G)	.	.	0.999971317418422	0.888
18	746053	T	G	18	746053	y	y	splicing	YES1(NM_005433:exon6:c.471-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon6:c.471-2A>C;ENST00000577961:exon6:c.486-2A>C;ENST00000314574:exon6:c.471-2A>C)	.	.	0.999971317418422	0.888
18	746054	G	A	18	746054	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00635797358234451	0.18
18	746054	G	C	18	746054	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999091817398118	0.882
18	746054	G	T	18	746054	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.930017330196343	0.604
18	746055	G	A	18	746055	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.39091253365191E-5	0.012
18	746055	G	C	18	746055	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.39091253365191E-5	0.014
18	746055	G	T	18	746055	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.39091253365191E-5	0.014
18	746056	A	C	18	746056	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.147359214918486	0.376
18	746056	A	G	18	746056	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.28292219046703E-5	0.01
18	746056	A	T	18	746056	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.141206402343922	0.41
18	746057	A	C	18	746057	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0716113642815056	0.396
18	746057	A	G	18	746057	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.17595383962936E-5	0.004
18	746057	A	T	18	746057	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0397769459487742	0.354
18	746058	A	C	18	746058	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0102528200431867	0.278
18	746058	A	G	18	746058	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.59907290905001E-5	0.018
18	746058	A	T	18	746058	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0394551249255076	0.302
18	746059	A	C	18	746059	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00758017063573734	0.23
18	746059	A	G	18	746059	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.16062183973002E-4	0.022
18	746059	A	T	18	746059	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.15724997596842	0.284
18	746060	A	C	18	746060	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00274009301117395	0.11
18	746060	A	G	18	746060	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.54248710662492E-5	0.002
18	746060	A	T	18	746060	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00287538979156573	0.11
18	746061	A	C	18	746061	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0219314836958549	0.36
18	746061	A	G	18	746061	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.81454278309341E-5	0.012
18	746061	A	T	18	746061	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0562068918742573	0.408
18	746062	A	C	18	746062	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999891351463517	0.924
18	746062	A	G	18	746062	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00500011112312452	0.1
18	746062	A	T	18	746062	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.299060722236159	0.46
18	746063	T	A	18	746063	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.80979274379932E-5	0.008
18	746063	T	C	18	746063	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.956676788655358	0.93
18	746063	T	G	18	746063	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.76914999205008E-5	0.0
18	747912	T	A	18	747912	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.35633003794342E-5	0.016
18	747912	T	C	18	747912	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.59506137558516E-5	0.01
18	747912	T	G	18	747912	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.35633003794342E-5	0.016
18	747913	G	A	18	747913	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.05332990084657E-5	0.002
18	747913	G	C	18	747913	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.08299398646517E-5	0.004
18	747913	G	T	18	747913	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.72614265879749E-5	0.03
18	747914	C	A	18	747914	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.00684534904205E-5	0.014
18	747914	C	G	18	747914	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.41928941732168E-5	0.174
18	747914	C	T	18	747914	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.66578238217843E-5	0.004
18	747915	C	A	18	747915	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999930525894178	0.912
18	747915	C	G	18	747915	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999930525894178	0.922
18	747915	C	T	18	747915	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999908857414683	0.926
18	747916	A	C	18	747916	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.051840196634891	0.122
18	747916	A	G	18	747916	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00371366184624139	0.288
18	747916	A	T	18	747916	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00269714813762311	0.068
18	747917	T	A	18	747917	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999901376546448	0.934
18	747917	T	C	18	747917	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.997573655832523	0.752
18	747917	T	G	18	747917	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999948435201556	0.922
18	747918	A	C	18	747918	y	y	splicing	YES1(NM_005433:exon5:c.470+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.470+2T>G;ENST00000577961:exon5:c.485+2T>G;ENST00000314574:exon5:c.470+2T>G)	.	.	0.999945054244655	0.896
18	747918	A	G	18	747918	y	y	splicing	YES1(NM_005433:exon5:c.470+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.470+2T>C;ENST00000577961:exon5:c.485+2T>C;ENST00000314574:exon5:c.470+2T>C)	.	.	0.999659053978969	0.824
18	747918	A	T	18	747918	y	y	splicing	YES1(NM_005433:exon5:c.470+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.470+2T>A;ENST00000577961:exon5:c.485+2T>A;ENST00000314574:exon5:c.470+2T>A)	.	.	0.999945054244655	0.898
18	747919	C	A	18	747919	y	y	splicing	YES1(NM_005433:exon5:c.470+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.470+1G>T;ENST00000577961:exon5:c.485+1G>T;ENST00000314574:exon5:c.470+1G>T)	.	.	0.999980697831002	0.892
18	747919	C	G	18	747919	y	y	splicing	YES1(NM_005433:exon5:c.470+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.470+1G>C;ENST00000577961:exon5:c.485+1G>C;ENST00000314574:exon5:c.470+1G>C)	.	.	0.999980697831002	0.892
18	747919	C	T	18	747919	y	y	splicing	YES1(NM_005433:exon5:c.470+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.470+1G>A;ENST00000577961:exon5:c.485+1G>A;ENST00000314574:exon5:c.470+1G>A)	.	.	0.999980697831002	0.892
18	747920	T	A	18	747920	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.A470T:p.E157V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.A470T:p.E157V;ENSG00000176105:ENST00000314574:exon4:c.A470T:p.E157V;ENSG00000176105:ENST00000577961:exon4:c.A485T:p.E162V;	0.701395896603021	0.496
18	747920	T	C	18	747920	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.A470G:p.E157G;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.A470G:p.E157G;ENSG00000176105:ENST00000314574:exon4:c.A470G:p.E157G;ENSG00000176105:ENST00000577961:exon4:c.A485G:p.E162G;	0.72073747570169	0.384
18	747920	T	G	18	747920	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.A470C:p.E157A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.A470C:p.E157A;ENSG00000176105:ENST00000314574:exon4:c.A470C:p.E157A;ENSG00000176105:ENST00000577961:exon4:c.A485C:p.E162A;	0.577686213645574	0.694
18	747921	C	A	18	747921	y	y	exonic	YES1	stopgain SNV	YES1:NM_005433:exon4:c.G469T:p.E157X;	exonic	ENSG00000176105	stopgain SNV	ENSG00000176105:ENST00000584307:exon4:c.G469T:p.E157X;ENSG00000176105:ENST00000314574:exon4:c.G469T:p.E157X;ENSG00000176105:ENST00000577961:exon4:c.G484T:p.E162X;	0.992005297898757	0.696
18	747921	C	G	18	747921	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.G469C:p.E157Q;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.G469C:p.E157Q;ENSG00000176105:ENST00000314574:exon4:c.G469C:p.E157Q;ENSG00000176105:ENST00000577961:exon4:c.G484C:p.E162Q;	0.981155151181067	0.618
18	747921	C	T	18	747921	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.G469A:p.E157K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.G469A:p.E157K;ENSG00000176105:ENST00000314574:exon4:c.G469A:p.E157K;ENSG00000176105:ENST00000577961:exon4:c.G484A:p.E162K;	0.964998493778344	0.54
18	747922	T	A	18	747922	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.A468T:p.E156D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.A468T:p.E156D;ENSG00000176105:ENST00000314574:exon4:c.A468T:p.E156D;ENSG00000176105:ENST00000577961:exon4:c.A483T:p.E161D;	0.968338434122952	0.738
18	747922	T	C	18	747922	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon4:c.A468G:p.E156E;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.A468G:p.E156E;ENSG00000176105:ENST00000314574:exon4:c.A468G:p.E156E;ENSG00000176105:ENST00000577961:exon4:c.A483G:p.E161E;	0.209872496258288	0.458
18	747922	T	G	18	747922	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.A468C:p.E156D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.A468C:p.E156D;ENSG00000176105:ENST00000314574:exon4:c.A468C:p.E156D;ENSG00000176105:ENST00000577961:exon4:c.A483C:p.E161D;	0.869381099901686	0.724
18	748017	C	A	18	748017	y	y	exonic	YES1	stopgain SNV	YES1:NM_005433:exon4:c.G373T:p.E125X;	exonic	ENSG00000176105	stopgain SNV	ENSG00000176105:ENST00000584307:exon4:c.G373T:p.E125X;ENSG00000176105:ENST00000314574:exon4:c.G373T:p.E125X;ENSG00000176105:ENST00000577961:exon4:c.G388T:p.E130X;	0.97850644612614	0.808
18	748017	C	G	18	748017	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.G373C:p.E125Q;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.G373C:p.E125Q;ENSG00000176105:ENST00000314574:exon4:c.G373C:p.E125Q;ENSG00000176105:ENST00000577961:exon4:c.G388C:p.E130Q;	0.916009198351505	0.724
18	748017	C	T	18	748017	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon4:c.G373A:p.E125K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.G373A:p.E125K;ENSG00000176105:ENST00000314574:exon4:c.G373A:p.E125K;ENSG00000176105:ENST00000577961:exon4:c.G388A:p.E130K;	0.982839776797834	0.744
18	748018	C	A	18	748018	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon4:c.G372T:p.T124T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.G372T:p.T124T;ENSG00000176105:ENST00000314574:exon4:c.G372T:p.T124T;ENSG00000176105:ENST00000577961:exon4:c.G387T:p.T129T;	0.988610889359581	0.896
18	748018	C	G	18	748018	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon4:c.G372C:p.T124T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.G372C:p.T124T;ENSG00000176105:ENST00000314574:exon4:c.G372C:p.T124T;ENSG00000176105:ENST00000577961:exon4:c.G387C:p.T129T;	0.978336660331201	0.816
18	748018	C	T	18	748018	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon4:c.G372A:p.T124T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon4:c.G372A:p.T124T;ENSG00000176105:ENST00000314574:exon4:c.G372A:p.T124T;ENSG00000176105:ENST00000577961:exon4:c.G387A:p.T129T;	0.983618152291284	0.688
18	748019	C	A	18	748019	y	y	splicing	YES1(NM_005433:exon5:c.372-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.372-1G>T;ENST00000577961:exon5:c.387-1G>T;ENST00000314574:exon5:c.372-1G>T)	.	.	0.999990361384395	0.916
18	748019	C	G	18	748019	y	y	splicing	YES1(NM_005433:exon5:c.372-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.372-1G>C;ENST00000577961:exon5:c.387-1G>C;ENST00000314574:exon5:c.372-1G>C)	.	.	0.999990361384395	0.914
18	748019	C	T	18	748019	y	y	splicing	YES1(NM_005433:exon5:c.372-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.372-1G>A;ENST00000577961:exon5:c.387-1G>A;ENST00000314574:exon5:c.372-1G>A)	.	.	0.999990361384395	0.916
18	748020	T	A	18	748020	y	y	splicing	YES1(NM_005433:exon5:c.372-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.372-2A>T;ENST00000577961:exon5:c.387-2A>T;ENST00000314574:exon5:c.372-2A>T)	.	.	0.999992446697775	0.914
18	748020	T	C	18	748020	y	y	splicing	YES1(NM_005433:exon5:c.372-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.372-2A>G;ENST00000577961:exon5:c.387-2A>G;ENST00000314574:exon5:c.372-2A>G)	.	.	0.999992446697775	0.914
18	748020	T	G	18	748020	y	y	splicing	YES1(NM_005433:exon5:c.372-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon5:c.372-2A>C;ENST00000577961:exon5:c.387-2A>C;ENST00000314574:exon5:c.372-2A>C)	.	.	0.999992446697775	0.914
18	748021	G	A	18	748021	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.40262910127506	0.242
18	748021	G	C	18	748021	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.99989338189989	0.942
18	748021	G	T	18	748021	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.99976971669422	0.84
18	748022	C	A	18	748022	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.07255284216712E-5	0.0
18	748022	C	G	18	748022	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.46751643720321E-5	0.0
18	748022	C	T	18	748022	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.7581420002541E-5	0.0
18	748023	A	C	18	748023	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.734582416160006	0.512
18	748023	A	G	18	748023	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0119962694108905	0.186
18	748023	A	T	18	748023	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999926981496194	0.944
18	748024	A	C	18	748024	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.775668117268005	0.546
18	748024	A	G	18	748024	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.70296926107121E-4	0.046
18	748024	A	T	18	748024	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.812972617468931	0.568
18	748025	C	A	18	748025	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.71440122513228E-5	0.006
18	748025	C	G	18	748025	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.49842559183409E-5	0.004
18	748025	C	T	18	748025	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.6888363969376E-5	0.004
18	748026	A	C	18	748026	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.529364748812396	0.482
18	748026	A	G	18	748026	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00128318985126615	0.132
18	748026	A	T	18	748026	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999937598695193	0.978
18	748027	C	A	18	748027	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.2012209526753E-5	0.026
18	748027	C	G	18	748027	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.9585461660219E-5	0.034
18	748027	C	T	18	748027	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.88648461208648E-4	0.08
18	748028	A	C	18	748028	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999928281345048	0.968
18	748028	A	G	18	748028	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00151822132786851	0.084
18	748028	A	T	18	748028	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999883137251519	0.97
18	748029	T	A	18	748029	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.00318035719508E-4	0.162
18	748029	T	C	18	748029	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	9.83714944616802E-5	0.288
18	748029	T	G	18	748029	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.10033185821356E-4	0.216
18	748030	A	C	18	748030	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.367813020918592	0.5
18	748030	A	G	18	748030	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.83691734724249E-4	0.01
18	748030	A	T	18	748030	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.334922633707901	0.514
18	751697	A	C	18	751697	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.30572977345717E-5	0.0
18	751697	A	G	18	751697	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.55346793773738E-4	0.0
18	751697	A	T	18	751697	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.04765465746959E-4	0.002
18	751698	C	A	18	751698	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.43387585100711E-4	0.0
18	751698	C	G	18	751698	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.33979073727563E-5	0.008
18	751698	C	T	18	751698	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.01016587568295E-4	0.0
18	751699	A	C	18	751699	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.928412594641877	0.7
18	751699	A	G	18	751699	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.942938824761689	0.72
18	751699	A	T	18	751699	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.940400542321038	0.67
18	751700	C	A	18	751700	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999938261051344	0.938
18	751700	C	G	18	751700	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999854679647441	0.984
18	751700	C	T	18	751700	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999976558954916	0.992
18	751701	T	A	18	751701	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.998277108919292	0.914
18	751701	T	C	18	751701	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.998180077406946	0.954
18	751701	T	G	18	751701	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.993813923842606	0.882
18	751702	T	A	18	751702	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999743806927583	0.954
18	751702	T	C	18	751702	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.65880571844657	0.512
18	751702	T	G	18	751702	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999618653145855	0.94
18	751703	A	C	18	751703	y	y	splicing	YES1(NM_005433:exon4:c.371+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.371+2T>G;ENST00000577961:exon4:c.386+2T>G;ENST00000314574:exon4:c.371+2T>G)	.	.	0.999988247793601	0.93
18	751703	A	G	18	751703	y	y	splicing	YES1(NM_005433:exon4:c.371+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.371+2T>C;ENST00000577961:exon4:c.386+2T>C;ENST00000314574:exon4:c.371+2T>C)	.	.	0.997082385503644	0.718
18	751703	A	T	18	751703	y	y	splicing	YES1(NM_005433:exon4:c.371+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.371+2T>A;ENST00000577961:exon4:c.386+2T>A;ENST00000314574:exon4:c.371+2T>A)	.	.	0.999988247793601	0.93
18	751704	C	A	18	751704	y	y	splicing	YES1(NM_005433:exon4:c.371+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.371+1G>T;ENST00000577961:exon4:c.386+1G>T;ENST00000314574:exon4:c.371+1G>T)	.	.	0.999989072007339	0.934
18	751704	C	G	18	751704	y	y	splicing	YES1(NM_005433:exon4:c.371+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.371+1G>C;ENST00000577961:exon4:c.386+1G>C;ENST00000314574:exon4:c.371+1G>C)	.	.	0.999989072007339	0.934
18	751704	C	T	18	751704	y	y	splicing	YES1(NM_005433:exon4:c.371+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.371+1G>A;ENST00000577961:exon4:c.386+1G>A;ENST00000314574:exon4:c.371+1G>A)	.	.	0.999989072007339	0.934
18	751705	G	A	18	751705	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.C371T:p.T124M;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.C371T:p.T124M;ENSG00000176105:ENST00000314574:exon3:c.C371T:p.T124M;ENSG00000176105:ENST00000577961:exon3:c.C386T:p.T129M;	0.987114733641265	0.746
18	751705	G	C	18	751705	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.C371G:p.T124R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.C371G:p.T124R;ENSG00000176105:ENST00000314574:exon3:c.C371G:p.T124R;ENSG00000176105:ENST00000577961:exon3:c.C386G:p.T129R;	0.874001814187062	0.518
18	751705	G	T	18	751705	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.C371A:p.T124K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.C371A:p.T124K;ENSG00000176105:ENST00000314574:exon3:c.C371A:p.T124K;ENSG00000176105:ENST00000577961:exon3:c.C386A:p.T129K;	0.97264784731171	0.766
18	751706	T	A	18	751706	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.A370T:p.T124S;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.A370T:p.T124S;ENSG00000176105:ENST00000314574:exon3:c.A370T:p.T124S;ENSG00000176105:ENST00000577961:exon3:c.A385T:p.T129S;	0.974166378971444	0.834
18	751706	T	C	18	751706	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.A370G:p.T124A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.A370G:p.T124A;ENSG00000176105:ENST00000314574:exon3:c.A370G:p.T124A;ENSG00000176105:ENST00000577961:exon3:c.A385G:p.T129A;	0.991383231747672	0.89
18	751706	T	G	18	751706	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.A370C:p.T124P;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.A370C:p.T124P;ENSG00000176105:ENST00000314574:exon3:c.A370C:p.T124P;ENSG00000176105:ENST00000577961:exon3:c.A385C:p.T129P;	0.993211489057425	0.8
18	751707	A	C	18	751707	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.T369G:p.N123K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.T369G:p.N123K;ENSG00000176105:ENST00000314574:exon3:c.T369G:p.N123K;ENSG00000176105:ENST00000577961:exon3:c.T384G:p.N128K;	4.80618016561901E-5	0.148
18	751707	A	G	18	751707	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon3:c.T369C:p.N123N;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.T369C:p.N123N;ENSG00000176105:ENST00000314574:exon3:c.T369C:p.N123N;ENSG00000176105:ENST00000577961:exon3:c.T384C:p.N128N;	1.58953548370684E-5	0.002
18	751707	A	T	18	751707	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.T369A:p.N123K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.T369A:p.N123K;ENSG00000176105:ENST00000314574:exon3:c.T369A:p.N123K;ENSG00000176105:ENST00000577961:exon3:c.T384A:p.N128K;	2.84936519692589E-5	0.168
18	751803	A	C	18	751803	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon3:c.T273G:p.G91G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.T273G:p.G91G;ENSG00000176105:ENST00000314574:exon3:c.T273G:p.G91G;ENSG00000176105:ENST00000577961:exon3:c.T288G:p.G96G;	0.850061524526702	0.462
18	751803	A	G	18	751803	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon3:c.T273C:p.G91G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.T273C:p.G91G;ENSG00000176105:ENST00000314574:exon3:c.T273C:p.G91G;ENSG00000176105:ENST00000577961:exon3:c.T288C:p.G96G;	0.89000011518496	0.454
18	751803	A	T	18	751803	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon3:c.T273A:p.G91G;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.T273A:p.G91G;ENSG00000176105:ENST00000314574:exon3:c.T273A:p.G91G;ENSG00000176105:ENST00000577961:exon3:c.T288A:p.G96G;	0.890053966061077	0.474
18	751804	C	A	18	751804	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.G272T:p.G91V;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.G272T:p.G91V;ENSG00000176105:ENST00000314574:exon3:c.G272T:p.G91V;ENSG00000176105:ENST00000577961:exon3:c.G287T:p.G96V;	0.999899349925865	0.996
18	751804	C	G	18	751804	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.G272C:p.G91A;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.G272C:p.G91A;ENSG00000176105:ENST00000314574:exon3:c.G272C:p.G91A;ENSG00000176105:ENST00000577961:exon3:c.G287C:p.G96A;	0.999869942152555	0.986
18	751804	C	T	18	751804	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon3:c.G272A:p.G91D;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon3:c.G272A:p.G91D;ENSG00000176105:ENST00000314574:exon3:c.G272A:p.G91D;ENSG00000176105:ENST00000577961:exon3:c.G287A:p.G96D;	0.999420375318037	0.94
18	751805	C	A	18	751805	y	y	splicing	YES1(NM_005433:exon4:c.272-1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.272-1G>T;ENST00000577961:exon4:c.287-1G>T;ENST00000314574:exon4:c.272-1G>T)	.	.	0.999989072007339	0.932
18	751805	C	G	18	751805	y	y	splicing	YES1(NM_005433:exon4:c.272-1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.272-1G>C;ENST00000577961:exon4:c.287-1G>C;ENST00000314574:exon4:c.272-1G>C)	.	.	0.999989072007339	0.932
18	751805	C	T	18	751805	y	y	splicing	YES1(NM_005433:exon4:c.272-1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.272-1G>A;ENST00000577961:exon4:c.287-1G>A;ENST00000314574:exon4:c.272-1G>A)	.	.	0.999989072007339	0.932
18	751806	T	A	18	751806	y	y	splicing	YES1(NM_005433:exon4:c.272-2A>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.272-2A>T;ENST00000577961:exon4:c.287-2A>T;ENST00000314574:exon4:c.272-2A>T)	.	.	0.999988247793601	0.928
18	751806	T	C	18	751806	y	y	splicing	YES1(NM_005433:exon4:c.272-2A>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.272-2A>G;ENST00000577961:exon4:c.287-2A>G;ENST00000314574:exon4:c.272-2A>G)	.	.	0.999988247793601	0.928
18	751806	T	G	18	751806	y	y	splicing	YES1(NM_005433:exon4:c.272-2A>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon4:c.272-2A>C;ENST00000577961:exon4:c.287-2A>C;ENST00000314574:exon4:c.272-2A>C)	.	.	0.999988247793601	0.928
18	751807	A	C	18	751807	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.963680916817462	0.66
18	751807	A	G	18	751807	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22673239369718E-4	0.004
18	751807	A	T	18	751807	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00348736951082829	0.282
18	751808	T	A	18	751808	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.04431828455603E-4	0.012
18	751808	T	C	18	751808	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00158938537142505	0.076
18	751808	T	G	18	751808	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.93354461653319E-4	0.07
18	751809	C	A	18	751809	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.93122219523525E-5	0.002
18	751809	C	G	18	751809	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	9.87924274643257E-5	0.0
18	751809	C	T	18	751809	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.72023261504523E-5	0.0
18	751810	A	C	18	751810	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00371324952591721	0.086
18	751810	A	G	18	751810	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.49842450453621E-5	0.004
18	751810	A	T	18	751810	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999767357920476	0.968
18	751811	G	A	18	751811	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.138459603723E-5	0.0
18	751811	G	C	18	751811	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.92380501992966E-4	0.014
18	751811	G	T	18	751811	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.33454976764564E-4	0.004
18	751812	A	C	18	751812	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00825226959609432	0.094
18	751812	A	G	18	751812	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.58810266852841E-5	0.0
18	751812	A	T	18	751812	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00117604768379684	0.052
18	751813	G	A	18	751813	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	9.32269054637541E-5	0.0
18	751813	G	C	18	751813	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0023881023506648	0.068
18	751813	G	T	18	751813	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0119700456004527	0.128
18	751814	G	A	18	751814	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.69467855599823E-5	0.0
18	751814	G	C	18	751814	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.84179783488442E-4	0.048
18	751814	G	T	18	751814	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.04106081530202E-4	0.034
18	751815	G	A	18	751815	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.65965658795311E-5	0.002
18	751815	G	C	18	751815	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.16332114449095E-4	0.036
18	751815	G	T	18	751815	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.89541431459138E-4	0.04
18	751816	A	C	18	751816	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00769824481276461	0.142
18	751816	A	G	18	751816	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	7.8867904716005E-4	0.018
18	751816	A	T	18	751816	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0132199654139099	0.154
18	756549	A	C	18	756549	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.82796162172167E-4	0.002
18	756549	A	G	18	756549	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.23708487689079E-4	0.002
18	756549	A	T	18	756549	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.76306841670454E-4	0.012
18	756550	A	C	18	756550	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.20091943245474E-5	0.004
18	756550	A	G	18	756550	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.20091943245474E-5	0.004
18	756550	A	T	18	756550	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.20091943245474E-5	0.002
18	756551	T	A	18	756551	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.3811231078447E-4	0.01
18	756551	T	C	18	756551	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00155221315237574	0.002
18	756551	T	G	18	756551	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00641658639732801	0.088
18	756552	C	A	18	756552	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.995115754210588	0.93
18	756552	C	G	18	756552	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.996301087179552	0.906
18	756552	C	T	18	756552	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999248482855643	0.974
18	756553	T	A	18	756553	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.996358853478741	0.844
18	756553	T	C	18	756553	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.990030582703493	0.75
18	756553	T	G	18	756553	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.960638318290521	0.646
18	756554	C	A	18	756554	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.18588217388482	0.496
18	756554	C	G	18	756554	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.199953701731723	0.458
18	756554	C	T	18	756554	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.16407902377428E-5	0.002
18	756555	A	C	18	756555	y	y	splicing	YES1(NM_005433:exon3:c.271+2T>G)	.	.	splicing	ENSG00000176105(ENST00000584307:exon3:c.271+2T>G;ENST00000577961:exon3:c.286+2T>G;ENST00000314574:exon3:c.271+2T>G)	.	.	0.999988247793601	0.94
18	756555	A	G	18	756555	y	y	splicing	YES1(NM_005433:exon3:c.271+2T>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon3:c.271+2T>C;ENST00000577961:exon3:c.286+2T>C;ENST00000314574:exon3:c.271+2T>C)	.	.	0.99991520749976	0.87
18	756555	A	T	18	756555	y	y	splicing	YES1(NM_005433:exon3:c.271+2T>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon3:c.271+2T>A;ENST00000577961:exon3:c.286+2T>A;ENST00000314574:exon3:c.271+2T>A)	.	.	0.999988247793601	0.94
18	756556	C	A	18	756556	y	y	splicing	YES1(NM_005433:exon3:c.271+1G>T)	.	.	splicing	ENSG00000176105(ENST00000584307:exon3:c.271+1G>T;ENST00000577961:exon3:c.286+1G>T;ENST00000314574:exon3:c.271+1G>T)	.	.	0.999986675681007	0.944
18	756556	C	G	18	756556	y	y	splicing	YES1(NM_005433:exon3:c.271+1G>C)	.	.	splicing	ENSG00000176105(ENST00000584307:exon3:c.271+1G>C;ENST00000577961:exon3:c.286+1G>C;ENST00000314574:exon3:c.271+1G>C)	.	.	0.999986675681007	0.944
18	756556	C	T	18	756556	y	y	splicing	YES1(NM_005433:exon3:c.271+1G>A)	.	.	splicing	ENSG00000176105(ENST00000584307:exon3:c.271+1G>A;ENST00000577961:exon3:c.286+1G>A;ENST00000314574:exon3:c.271+1G>A)	.	.	0.999986675681007	0.944
18	756557	C	A	18	756557	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon2:c.G271T:p.G91C;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.G271T:p.G91C;ENSG00000176105:ENST00000314574:exon2:c.G271T:p.G91C;ENSG00000176105:ENST00000577961:exon2:c.G286T:p.G96C;	0.999932660454169	0.988
18	756557	C	G	18	756557	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon2:c.G271C:p.G91R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.G271C:p.G91R;ENSG00000176105:ENST00000314574:exon2:c.G271C:p.G91R;ENSG00000176105:ENST00000577961:exon2:c.G286C:p.G96R;	0.99998842775216	1.0
18	756557	C	T	18	756557	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon2:c.G271A:p.G91S;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.G271A:p.G91S;ENSG00000176105:ENST00000314574:exon2:c.G271A:p.G91S;ENSG00000176105:ENST00000577961:exon2:c.G286A:p.G96S;	0.999950887127264	0.998
18	756558	T	A	18	756558	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon2:c.A270T:p.T90T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.A270T:p.T90T;ENSG00000176105:ENST00000314574:exon2:c.A270T:p.T90T;ENSG00000176105:ENST00000577961:exon2:c.A285T:p.T95T;	0.983718195707734	0.746
18	756558	T	C	18	756558	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon2:c.A270G:p.T90T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.A270G:p.T90T;ENSG00000176105:ENST00000314574:exon2:c.A270G:p.T90T;ENSG00000176105:ENST00000577961:exon2:c.A285G:p.T95T;	0.985445152846025	0.814
18	756558	T	G	18	756558	y	y	exonic	YES1	synonymous SNV	YES1:NM_005433:exon2:c.A270C:p.T90T;	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.A270C:p.T90T;ENSG00000176105:ENST00000314574:exon2:c.A270C:p.T90T;ENSG00000176105:ENST00000577961:exon2:c.A285C:p.T95T;	0.970630410472917	0.838
18	756559	G	A	18	756559	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon2:c.C269T:p.T90I;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.C269T:p.T90I;ENSG00000176105:ENST00000314574:exon2:c.C269T:p.T90I;ENSG00000176105:ENST00000577961:exon2:c.C284T:p.T95I;	0.99829384562974	0.882
18	756559	G	C	18	756559	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon2:c.C269G:p.T90R;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.C269G:p.T90R;ENSG00000176105:ENST00000314574:exon2:c.C269G:p.T90R;ENSG00000176105:ENST00000577961:exon2:c.C284G:p.T95R;	0.814758116768598	0.646
18	756559	G	T	18	756559	y	y	exonic	YES1	nonsynonymous SNV	YES1:NM_005433:exon2:c.C269A:p.T90K;	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000584307:exon2:c.C269A:p.T90K;ENSG00000176105:ENST00000314574:exon2:c.C269A:p.T90K;ENSG00000176105:ENST00000577961:exon2:c.C284A:p.T95K;	0.937247267315487	0.734
18	756834	A	C	18	756834	y	y	UTR5	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon2:c.T9G:p.D3E;	1.3785519895296E-4	0.004
18	756834	A	G	18	756834	y	y	UTR5	YES1	.	.	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000577961:exon2:c.T9C:p.D3D;	7.95915784671482E-5	0.008
18	756834	A	T	18	756834	y	y	UTR5	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon2:c.T9A:p.D3E;	1.76997163335305E-4	0.002
18	756835	T	A	18	756835	y	y	UTR5	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon2:c.A8T:p.D3V;	0.00126582697845114	0.054
18	756835	T	C	18	756835	y	y	UTR5	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon2:c.A8G:p.D3G;	3.05023118476356E-4	0.008
18	756835	T	G	18	756835	y	y	UTR5	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon2:c.A8C:p.D3A;	9.70975743477361E-4	0.036
18	756836	C	A	18	756836	y	y	splicing	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon3:c.8-1G>T)	.	.	0.999980255680118	0.744
18	756836	C	G	18	756836	y	y	splicing	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon3:c.8-1G>C)	.	.	0.999980255680118	0.748
18	756836	C	T	18	756836	y	y	splicing	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon3:c.8-1G>A)	.	.	0.999980255680118	0.782
18	756837	T	A	18	756837	y	y	splicing	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon3:c.8-2A>T)	.	.	0.99996947969426	0.774
18	756837	T	C	18	756837	y	y	splicing	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon3:c.8-2A>G)	.	.	0.99996947969426	0.774
18	756837	T	G	18	756837	y	y	splicing	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon3:c.8-2A>C)	.	.	0.99996947969426	0.774
18	756838	A	C	18	756838	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.995246780420787	0.736
18	756838	A	G	18	756838	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.20465661435061E-4	0.042
18	756838	A	T	18	756838	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0066945615985416	0.316
18	756839	C	A	18	756839	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.43881802060675E-5	0.014
18	756839	C	G	18	756839	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.30669110087577E-5	0.014
18	756839	C	T	18	756839	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.92533988531966E-5	0.004
18	756840	A	C	18	756840	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.63983544656581	0.548
18	756840	A	G	18	756840	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.25884198322155E-4	0.058
18	756840	A	T	18	756840	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999403479750019	0.914
18	756841	G	A	18	756841	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.303416407101E-5	0.014
18	756841	G	C	18	756841	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00265791841246836	0.198
18	756841	G	T	18	756841	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00479190293652229	0.224
18	756842	A	C	18	756842	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0156232909158993	0.208
18	756842	A	G	18	756842	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	9.64549234465148E-5	0.032
18	756842	A	T	18	756842	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0878447486820745	0.322
18	756843	G	A	18	756843	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.79690485526676E-5	0.018
18	756843	G	C	18	756843	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.07554604267829E-4	0.004
18	756843	G	T	18	756843	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	3.237528147691E-4	0.006
18	756844	A	C	18	756844	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0257619554537557	0.14
18	756844	A	G	18	756844	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.57472578916559E-4	0.0
18	756844	A	T	18	756844	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.027783872217715	0.106
18	756845	C	A	18	756845	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.92017314592258E-5	0.0
18	756845	C	G	18	756845	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.18611370053195E-5	0.004
18	756845	C	T	18	756845	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.36646740412662E-5	0.0
18	756846	A	C	18	756846	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00509678053877007	0.246
18	756846	A	G	18	756846	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.76855510858661E-5	0.022
18	756846	A	T	18	756846	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.735921332800766	0.628
18	756847	A	C	18	756847	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.999187087273337	0.932
18	756847	A	G	18	756847	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	5.49636300542036E-4	0.024
18	756847	A	T	18	756847	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0466582987638454	0.316
18	775182	A	C	18	775181	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22715807398031E-5	0.0
18	775182	A	G	18	775181	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22715807398031E-5	0.0
18	775182	A	T	18	775181	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.89552819446206E-5	0.0
18	775183	A	C	18	775182	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22715807398031E-5	0.0
18	775183	A	G	18	775182	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22715807398031E-5	0.0
18	775183	A	T	18	775182	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.89552819446206E-5	0.0
18	775184	A	C	18	775183	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22715807398031E-5	0.0
18	775184	A	G	18	775183	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22715807398031E-5	0.0
18	775184	A	T	18	775183	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.89552819446206E-5	0.0
18	775185	C	A	18	775184	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.73686617846189E-5	0.004
18	775185	C	G	18	775184	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.73686617846189E-5	0.004
18	775185	C	T	18	775184	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.73686617846189E-5	0.004
18	775186	A	C	18	775185	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22715807398031E-5	0.004
18	775186	A	G	18	775185	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.22715807398031E-5	0.004
18	775186	A	T	18	775185	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.89552819446206E-5	0.0
18	775187	C	A	18	775186	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.45277156108894E-5	0.0
18	775187	C	G	18	775186	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.45277156108894E-5	0.0
18	775187	C	T	18	775186	n	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	2.45277156108894E-5	0.0
18	775188	A	C	18	775187	n	y	intronic	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon2:c.7+2T>G)	.	.	9.57123356397867E-5	0.024
18	775188	A	G	18	775187	n	y	intronic	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon2:c.7+2T>C)	.	.	9.57123356397867E-5	0.024
18	775188	A	T	18	775187	n	y	intronic	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon2:c.7+2T>A)	.	.	9.57123356397867E-5	0.024
18	775189	C	A	18	775188	n	y	intronic	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon2:c.7+1G>T)	.	.	1.99153316237132E-5	0.0
18	775189	C	G	18	775188	n	y	intronic	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon2:c.7+1G>C)	.	.	1.99153316237132E-5	0.0
18	775189	C	T	18	775188	n	y	intronic	YES1	.	.	splicing	ENSG00000176105(ENST00000577961:exon2:c.7+1G>A)	.	.	1.99153316237132E-5	0.0
18	775190	C	A	18	775189	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon1:c.G7T:p.D3Y;	1.31456738455183E-4	0.068
18	775190	C	G	18	775189	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon1:c.G7C:p.D3H;	2.0304130734975E-4	0.046
18	775190	C	T	18	775189	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon1:c.G7A:p.D3N;	3.60358360089828E-4	0.026
18	775191	T	A	18	775190	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon1:c.A6T:p.L2F;	1.37501361942679E-5	0.008
18	775191	T	C	18	775190	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	synonymous SNV	ENSG00000176105:ENST00000577961:exon1:c.A6G:p.L2L;	1.48367148474546E-5	0.006
18	775191	T	G	18	775190	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon1:c.A6C:p.L2F;	1.37501361942679E-5	0.008
18	775192	A	C	18	775191	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	stopgain SNV	ENSG00000176105:ENST00000577961:exon1:c.T5G:p.L2X;	0.00595599177109366	0.056
18	775192	A	G	18	775191	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	nonsynonymous SNV	ENSG00000176105:ENST00000577961:exon1:c.T5C:p.L2S;	9.57123356397867E-5	0.024
18	775192	A	T	18	775191	n	y	intronic	YES1	.	.	exonic	ENSG00000176105	stopgain SNV	ENSG00000176105:ENST00000577961:exon1:c.T5A:p.L2X;	0.00595599177109366	0.07
18	812107	G	A	18	812106	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	8.35697579118787E-5	0.0
18	812107	G	C	18	812106	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.59797615271383E-5	0.0
18	812107	G	T	18	812106	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	4.59797615271383E-5	0.008
18	812108	T	A	18	812107	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.50538706420394E-5	0.0
18	812108	T	C	18	812107	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.27935625330014E-5	0.004
18	812108	T	G	18	812107	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	6.21978182991299E-5	0.0
18	812109	C	A	18	812108	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.12898465670343E-4	0.0
18	812109	C	G	18	812108	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.33840032954934E-4	0.008
18	812109	C	T	18	812108	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	1.44024985540992E-4	0.0
18	812110	C	A	18	812109	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.492194864224079	0.578
18	812110	C	G	18	812109	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.30187509075829	0.512
18	812110	C	T	18	812109	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.279802192285134	0.652
18	812111	T	A	18	812110	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0505979684786834	0.348
18	812111	T	C	18	812110	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.121409228296488	0.432
18	812111	T	G	18	812110	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.0377172468273165	0.316
18	812112	T	A	18	812111	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.901840149405184	0.6
18	812112	T	C	18	812111	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.00139017225640293	0.052
18	812112	T	G	18	812111	y	y	intronic	YES1	.	.	intronic	ENSG00000176105	.	.	0.864167060074955	0.61
18	812113	A	C	18	812112	y	y	splicing	YES1	.	.	splicing	ENSG00000176105	.	.	0.999387139742559	0.606
18	812113	A	G	18	812112	y	y	splicing	YES1	.	.	splicing	ENSG00000176105	.	.	0.707224896348021	0.452
18	812113	A	T	18	812112	y	y	splicing	YES1	.	.	splicing	ENSG00000176105	.	.	0.999224468236409	0.596
18	812114	C	A	18	812113	y	y	splicing	YES1	.	.	splicing	ENSG00000176105	.	.	0.999854645637654	0.808
18	812114	C	G	18	812113	y	y	splicing	YES1	.	.	splicing	ENSG00000176105	.	.	0.999854645637654	0.8
18	812114	C	T	18	812113	y	y	splicing	YES1	.	.	splicing	ENSG00000176105	.	.	0.999854645637654	0.81
18	812115	C	A	18	812114	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.915857539563562	0.716
18	812115	C	G	18	812114	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.97126314159025	0.668
18	812115	C	T	18	812114	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.688884327193832	0.638
18	812116	T	A	18	812115	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.627608503658186	0.422
18	812116	T	C	18	812115	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.595627746522536	0.402
18	812116	T	G	18	812115	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.561937474578981	0.47
18	812117	G	A	18	812116	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.112632562999392	0.26
18	812117	G	C	18	812116	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00342214904067102	0.068
18	812117	G	T	18	812116	y	y	UTR5	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00330617691614018	0.076
18	812377	G	A	18	812376	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.0026356507984752	0.016
18	812377	G	C	18	812376	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00177780133235394	0.012
18	812377	G	T	18	812376	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00227696397200993	0.012
18	812378	C	A	18	812377	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	6.09332237519757E-5	0.004
18	812378	C	G	18	812377	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	5.52086759380612E-5	0.004
18	812378	C	T	18	812377	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	6.09332237519757E-5	0.004
18	812379	G	A	18	812378	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00267205389289002	0.014
18	812379	G	C	18	812378	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00225473075344595	0.012
18	812379	G	T	18	812378	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00267205389289002	0.024
18	812380	G	A	18	812379	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00187352699916098	0.018
18	812380	G	C	18	812379	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00227905126559508	0.02
18	812380	G	T	18	812379	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00267205389289002	0.014
18	812381	G	A	18	812380	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	1.10853470952722E-4	0.026
18	812381	G	C	18	812380	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	6.39826558468951E-5	0.02
18	812381	G	T	18	812380	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	6.39826558468951E-5	0.02
18	812382	T	A	18	812381	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00236544145345248	0.004
18	812382	T	C	18	812381	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00199590941298324	0.008
18	812382	T	G	18	812381	n	y	upstream	YES1	.	.	intronic	ENSG00000176105	.	.	0.00199590941298324	0.01
18	812383	A	C	18	812382	n	y	upstream	YES1	.	.	splicing	ENSG00000176105	.	.	0.00201744380989017	0.008
18	812383	A	G	18	812382	n	y	upstream	YES1	.	.	splicing	ENSG00000176105	.	.	0.00201744380989017	0.008
18	812383	A	T	18	812382	n	y	upstream	YES1	.	.	splicing	ENSG00000176105	.	.	0.00127198210562724	0.004
18	812384	C	A	18	812383	n	y	upstream	YES1	.	.	splicing	ENSG00000176105	.	.	0.00252104886830013	0.02
18	812384	C	G	18	812383	n	y	upstream	YES1	.	.	splicing	ENSG00000176105	.	.	0.00187352699916098	0.024
18	812384	C	T	18	812383	n	y	upstream	YES1	.	.	splicing	ENSG00000176105	.	.	0.00252104886830013	0.02
18	812385	C	A	18	812384	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00252104886830013	0.024
18	812385	C	G	18	812384	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00252104886830013	0.02
18	812385	C	T	18	812384	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00372622871008222	0.024
18	812386	T	A	18	812385	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00223172515695393	0.008
18	812386	T	C	18	812385	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00127198210562724	0.012
18	812386	T	G	18	812385	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00165839143970926	0.03
18	812387	G	A	18	812386	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00372622871008222	0.02
18	812387	G	C	18	812386	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00252104886830013	0.014
18	812387	G	T	18	812386	n	y	upstream	YES1	.	.	UTR5	ENSG00000176105	.	.	0.00252104886830013	0.014
18	905059	A	C	18	905058	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.58105716915162E-4	0.004
18	905059	A	G	18	905058	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.58105716915162E-4	0.004
18	905059	A	T	18	905058	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.58105716915162E-4	0.002
18	905060	G	A	18	905059	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.27613057368345E-5	0.0
18	905060	G	C	18	905059	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.27613057368345E-5	0.0
18	905060	G	T	18	905059	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.27613057368345E-5	0.0
18	905061	G	A	18	905060	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	5.27540433342777E-5	0.008
18	905061	G	C	18	905060	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	4.62993125928192E-5	0.0
18	905061	G	T	18	905060	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	4.62993125928192E-5	0.004
18	905062	G	A	18	905061	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.77791352621521E-5	0.0
18	905062	G	C	18	905061	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.77791352621521E-5	0.0
18	905062	G	T	18	905061	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.77791352621521E-5	0.0
18	905063	T	A	18	905062	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.83488359282596E-5	0.006
18	905063	T	C	18	905062	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.83488359282596E-5	0.006
18	905063	T	G	18	905062	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.83488359282596E-5	0.006
18	905064	A	C	18	905063	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	5.45405907818794E-5	0.008
18	905064	A	G	18	905063	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.61811153049764E-5	0.006
18	905064	A	T	18	905063	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	6.21441922682638E-5	0.006
18	905065	A	C	18	905064	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	6.4056203239404E-5	0.07
18	905065	A	G	18	905064	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	6.4056203239404E-5	0.07
18	905065	A	T	18	905064	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	6.4056203239404E-5	0.064
18	905066	G	A	18	905065	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.74480241737554E-4	0.004
18	905066	G	C	18	905065	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.74480241737554E-4	0.0
18	905066	G	T	18	905065	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.74480241737554E-4	0.0
18	905067	G	A	18	905066	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.52746082241957E-4	0.228
18	905067	G	C	18	905066	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.04247707444285E-4	0.294
18	905067	G	T	18	905066	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.04247707444285E-4	0.336
18	905068	G	A	18	905067	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	7.54498827463714E-4	0.102
18	905068	G	C	18	905067	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	7.54498827463714E-4	0.066
18	905068	G	T	18	905067	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	7.54498827463714E-4	0.08
18	905069	A	C	18	905068	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.47245233660068E-5	0.004
18	905069	A	G	18	905068	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.47245233660068E-5	0.004
18	905069	A	T	18	905068	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.47245233660068E-5	0.004
18	905375	C	A	18	905374	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.04661109736481E-4	0.088
18	905375	C	G	18	905374	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.04661109736481E-4	0.08
18	905375	C	T	18	905374	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.04661109736481E-4	0.112
18	905376	A	C	18	905375	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.66835578245131E-5	0.0
18	905376	A	G	18	905375	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.66835578245131E-5	0.0
18	905376	A	T	18	905375	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.33833472525359E-5	0.0
18	905377	T	A	18	905376	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.23555218938291E-4	0.054
18	905377	T	C	18	905376	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.23555218938291E-4	0.052
18	905377	T	G	18	905376	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.23555218938291E-4	0.052
18	905378	C	A	18	905377	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.80650664972837E-4	0.002
18	905378	C	G	18	905377	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.80650664972837E-4	0.004
18	905378	C	T	18	905377	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.80650664972837E-4	0.002
18	905379	C	A	18	905378	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.70552093357571E-5	0.016
18	905379	C	G	18	905378	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.70552093357571E-5	0.016
18	905379	C	T	18	905378	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.70552093357571E-5	0.016
18	905380	T	A	18	905379	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.86529378542176E-5	0.008
18	905380	T	C	18	905379	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.85498714128061E-5	0.006
18	905380	T	G	18	905379	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.85498714128061E-5	0.006
18	905381	G	A	18	905380	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.01778320779704E-4	0.038
18	905381	G	C	18	905380	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.01778320779704E-4	0.038
18	905381	G	T	18	905380	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.01778320779704E-4	0.038
18	905382	C	A	18	905381	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.80650664972837E-4	0.008
18	905382	C	G	18	905381	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.80650664972837E-4	0.018
18	905382	C	T	18	905381	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.80650664972837E-4	0.014
18	905383	G	A	18	905382	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	8.13951347297017E-5	0.002
18	905383	G	C	18	905382	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	8.13951347297017E-5	0.002
18	905383	G	T	18	905382	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	8.13951347297017E-5	0.0
18	905384	C	A	18	905383	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	4.81587919352141E-4	0.014
18	905384	C	G	18	905383	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.35115461238441E-4	0.014
18	905384	C	T	18	905383	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	4.54864143880111E-4	0.014
18	905385	A	C	18	905384	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.00375954796434019	0.038
18	905385	A	G	18	905384	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.00375954796434019	0.038
18	905385	A	T	18	905384	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.00644508547513173	0.038
18	905386	G	A	18	905385	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.0188727900506883	0.032
18	905386	G	C	18	905385	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.0181219021055777	0.03
18	905386	G	T	18	905385	y	n	splicing	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.0157253398734127	0.034
18	905387	A	C	18	905386	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	4.83462205541164E-4	0.03
18	905387	A	G	18	905386	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	4.83462205541164E-4	0.03
18	905387	A	T	18	905386	y	n	UTR5	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	3.33000044841348E-4	0.024
18	905388	A	C	18	905387	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.A1C:p.M1L;ADCYAP1:NM_001117:exon1:c.A1C:p.M1L;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.A1C:p.M1L;ENSG00000141433:ENST00000450565:exon2:c.A1C:p.M1L;	0.00241202129902763	0.06
18	905388	A	G	18	905387	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.A1G:p.M1V;ADCYAP1:NM_001117:exon1:c.A1G:p.M1V;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.A1G:p.M1V;ENSG00000141433:ENST00000450565:exon2:c.A1G:p.M1V;	4.5672911410081E-4	0.014
18	905388	A	T	18	905387	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.A1T:p.M1L;ADCYAP1:NM_001117:exon1:c.A1T:p.M1L;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.A1T:p.M1L;ENSG00000141433:ENST00000450565:exon2:c.A1T:p.M1L;	0.00351603413574656	0.096
18	905495	C	A	18	905494	y	n	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon2:c.C108A:p.I36I;ADCYAP1:NM_001117:exon1:c.C108A:p.I36I;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.C108A:p.I36I;ENSG00000141433:ENST00000450565:exon2:c.C108A:p.I36I;	0.00385766599190836	0.046
18	905495	C	G	18	905494	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.C108G:p.I36M;ADCYAP1:NM_001117:exon1:c.C108G:p.I36M;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.C108G:p.I36M;ENSG00000141433:ENST00000450565:exon2:c.C108G:p.I36M;	0.0012006730381444	0.046
18	905495	C	T	18	905494	y	n	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon2:c.C108T:p.I36I;ADCYAP1:NM_001117:exon1:c.C108T:p.I36I;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.C108T:p.I36I;ENSG00000141433:ENST00000450565:exon2:c.C108T:p.I36I;	0.0706451042801721	0.508
18	905496	A	C	18	905495	y	n	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon2:c.A109C:p.R37R;ADCYAP1:NM_001117:exon1:c.A109C:p.R37R;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.A109C:p.R37R;ENSG00000141433:ENST00000450565:exon2:c.A109C:p.R37R;	0.967645941032994	0.858
18	905496	A	G	18	905495	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.A109G:p.R37G;ADCYAP1:NM_001117:exon1:c.A109G:p.R37G;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.A109G:p.R37G;ENSG00000141433:ENST00000450565:exon2:c.A109G:p.R37G;	0.999405277066203	0.976
18	905496	A	T	18	905495	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.A109T:p.R37W;ADCYAP1:NM_001117:exon1:c.A109T:p.R37W;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.A109T:p.R37W;ENSG00000141433:ENST00000450565:exon2:c.A109T:p.R37W;	0.999241754949142	0.954
18	905497	G	A	18	905496	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.G110A:p.R37K;ADCYAP1:NM_001117:exon1:c.G110A:p.R37K;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.G110A:p.R37K;ENSG00000141433:ENST00000450565:exon2:c.G110A:p.R37K;	0.999912776910116	0.976
18	905497	G	C	18	905496	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.G110C:p.R37T;ADCYAP1:NM_001117:exon1:c.G110C:p.R37T;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.G110C:p.R37T;ENSG00000141433:ENST00000450565:exon2:c.G110C:p.R37T;	0.999984489732078	0.994
18	905497	G	T	18	905496	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon2:c.G110T:p.R37M;ADCYAP1:NM_001117:exon1:c.G110T:p.R37M;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon1:c.G110T:p.R37M;ENSG00000141433:ENST00000450565:exon2:c.G110T:p.R37M;	0.999949734284386	0.992
18	905498	G	A	18	905497	y	n	splicing	ADCYAP1(NM_001099733:exon2:c.110+1G>A;NM_001117:exon1:c.110+1G>A)	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.999986675681007	0.932
18	905498	G	C	18	905497	y	n	splicing	ADCYAP1(NM_001099733:exon2:c.110+1G>C;NM_001117:exon1:c.110+1G>C)	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.999986675681007	0.93
18	905498	G	T	18	905497	y	n	splicing	ADCYAP1(NM_001099733:exon2:c.110+1G>T;NM_001117:exon1:c.110+1G>T)	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.999986675681007	0.88
18	905499	T	A	18	905498	y	n	splicing	ADCYAP1(NM_001099733:exon2:c.110+2T>A;NM_001117:exon1:c.110+2T>A)	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.999989917668626	0.924
18	905499	T	C	18	905498	y	n	splicing	ADCYAP1(NM_001099733:exon2:c.110+2T>C;NM_001117:exon1:c.110+2T>C)	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.985266808656705	0.612
18	905499	T	G	18	905498	y	n	splicing	ADCYAP1(NM_001099733:exon2:c.110+2T>G;NM_001117:exon1:c.110+2T>G)	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.999989917668626	0.924
18	905500	A	C	18	905499	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.963350823200326	0.778
18	905500	A	G	18	905499	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.77803120247989	0.652
18	905500	A	T	18	905499	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.944436086074437	0.776
18	905501	G	A	18	905500	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.59704976488603E-4	0.06
18	905501	G	C	18	905500	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.38206304741231E-4	0.022
18	905501	G	T	18	905500	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	4.7808328638045E-4	0.014
18	905502	G	A	18	905501	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.910719695031546	0.644
18	905502	G	C	18	905501	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.992020054246409	0.812
18	905502	G	T	18	905501	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.996950085794628	0.832
18	905503	T	A	18	905502	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.016742894496309	0.13
18	905503	T	C	18	905502	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.0061579034319176	0.188
18	905503	T	G	18	905502	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	0.00242963824612233	0.132
18	905504	G	A	18	905503	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.25356526846155E-5	0.0
18	905504	G	C	18	905503	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	1.19507809207797E-5	0.006
18	905504	G	T	18	905503	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	2.33197276083759E-5	0.0
18	905505	C	A	18	905504	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	7.61303119470935E-5	0.02
18	905505	C	G	18	905504	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	8.86984321053908E-5	0.02
18	905505	C	T	18	905504	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265179	.	.	7.61303119470935E-5	0.006
18	907648	G	A	18	907647	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	3.85142783241927E-4	0.018
18	907648	G	C	18	907647	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	1.0512680033519E-4	0.008
18	907648	G	T	18	907647	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	1.31781431012446E-4	0.01
18	907649	C	A	18	907648	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.00128233848727205	0.088
18	907649	C	G	18	907648	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.00156276944391148	0.124
18	907649	C	T	18	907648	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	1.99754357095224E-4	0.006
18	907650	C	A	18	907649	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	9.72389653648833E-4	0.034
18	907650	C	G	18	907649	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	3.98717195262131E-4	0.002
18	907650	C	T	18	907649	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	2.73601782269388E-5	0.0
18	907651	A	C	18	907650	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	1.2241861683452E-4	0.014
18	907651	A	G	18	907650	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	2.41514907003343E-4	0.006
18	907651	A	T	18	907650	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	2.10254122153028E-4	0.102
18	907652	C	A	18	907651	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.00453368795050295	0.224
18	907652	C	G	18	907651	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.999938071100952	0.974
18	907652	C	T	18	907651	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	9.81529603034148E-5	0.006
18	907653	C	A	18	907652	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.264199441982838	0.36
18	907653	C	G	18	907652	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.561534770201409	0.392
18	907653	C	T	18	907652	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	4.3791042825941E-4	0.042
18	907654	C	A	18	907653	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.0556569448349934	0.472
18	907654	C	G	18	907653	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.0225805277015052	0.444
18	907654	C	T	18	907653	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	1.11818761203359E-4	0.04
18	907655	C	A	18	907654	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.996132085400977	0.88
18	907655	C	G	18	907654	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.00354707658328135	0.136
18	907655	C	T	18	907654	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	1.65875996286613E-5	0.0
18	907656	G	A	18	907655	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.0023372995075347	0.026
18	907656	G	C	18	907655	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.00102824500693221	0.066
18	907656	G	T	18	907655	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.00140517194713211	0.152
18	907657	C	A	18	907656	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.972200352500309	0.84
18	907657	C	G	18	907656	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.999922808880319	0.868
18	907657	C	T	18	907656	y	n	intronic	ADCYAP1	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.0123710710299654	0.2
18	907658	A	C	18	907657	y	n	splicing	ADCYAP1(NM_001099733:exon3:c.111-2A>C;NM_001117:exon2:c.111-2A>C)	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.99999183847187	0.788
18	907658	A	G	18	907657	y	n	splicing	ADCYAP1(NM_001099733:exon3:c.111-2A>G;NM_001117:exon2:c.111-2A>G)	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.99999183847187	0.788
18	907658	A	T	18	907657	y	n	splicing	ADCYAP1(NM_001099733:exon3:c.111-2A>T;NM_001117:exon2:c.111-2A>T)	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.999984688382212	0.806
18	907659	G	A	18	907658	y	n	splicing	ADCYAP1(NM_001099733:exon3:c.111-1G>A;NM_001117:exon2:c.111-1G>A)	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.999970890420065	0.818
18	907659	G	C	18	907658	y	n	splicing	ADCYAP1(NM_001099733:exon3:c.111-1G>C;NM_001117:exon2:c.111-1G>C)	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.999970890420065	0.814
18	907659	G	T	18	907658	y	n	splicing	ADCYAP1(NM_001099733:exon3:c.111-1G>T;NM_001117:exon2:c.111-1G>T)	.	.	ncRNA_exonic	ENSG00000265671	.	.	0.999970890420065	0.822
18	907660	G	A	18	907659	y	n	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon3:c.G111A:p.R37R;ADCYAP1:NM_001117:exon2:c.G111A:p.R37R;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.G111A:p.R37R;ENSG00000141433:ENST00000450565:exon3:c.G111A:p.R37R;	0.00648308294143041	0.164
18	907660	G	C	18	907659	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.G111C:p.R37S;ADCYAP1:NM_001117:exon2:c.G111C:p.R37S;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.G111C:p.R37S;ENSG00000141433:ENST00000450565:exon3:c.G111C:p.R37S;	0.56356293289043	0.656
18	907660	G	T	18	907659	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.G111T:p.R37S;ADCYAP1:NM_001117:exon2:c.G111T:p.R37S;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.G111T:p.R37S;ENSG00000141433:ENST00000450565:exon3:c.G111T:p.R37S;	0.967980580340162	0.806
18	907661	C	A	18	907660	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.C112A:p.P38T;ADCYAP1:NM_001117:exon2:c.C112A:p.P38T;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.C112A:p.P38T;ENSG00000141433:ENST00000450565:exon3:c.C112A:p.P38T;	0.00274945858691402	0.062
18	907661	C	G	18	907660	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.C112G:p.P38A;ADCYAP1:NM_001117:exon2:c.C112G:p.P38A;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.C112G:p.P38A;ENSG00000141433:ENST00000450565:exon3:c.C112G:p.P38A;	5.50219162186689E-4	0.152
18	907661	C	T	18	907660	y	n	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.C112T:p.P38S;ADCYAP1:NM_001117:exon2:c.C112T:p.P38S;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.C112T:p.P38S;ENSG00000141433:ENST00000450565:exon3:c.C112T:p.P38S;	8.8002282924589E-4	0.002
18	907789	A	C	18	907788	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.A240C:p.R80S;ADCYAP1:NM_001117:exon2:c.A240C:p.R80S;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.A240C:p.R80S;ENSG00000141433:ENST00000450565:exon3:c.A240C:p.R80S;	1.01303135882351E-5	0.062
18	907789	A	G	18	907788	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon3:c.A240G:p.R80R;ADCYAP1:NM_001117:exon2:c.A240G:p.R80R;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.A240G:p.R80R;ENSG00000141433:ENST00000450565:exon3:c.A240G:p.R80R;	3.41516049800892E-4	0.02
18	907789	A	T	18	907788	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.A240T:p.R80S;ADCYAP1:NM_001117:exon2:c.A240T:p.R80S;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.A240T:p.R80S;ENSG00000141433:ENST00000450565:exon3:c.A240T:p.R80S;	0.00570669719896564	0.336
18	907790	A	C	18	907789	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon3:c.A241C:p.R81R;ADCYAP1:NM_001117:exon2:c.A241C:p.R81R;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.A241C:p.R81R;ENSG00000141433:ENST00000450565:exon3:c.A241C:p.R81R;	0.997853924639117	0.922
18	907790	A	G	18	907789	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.A241G:p.R81G;ADCYAP1:NM_001117:exon2:c.A241G:p.R81G;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.A241G:p.R81G;ENSG00000141433:ENST00000450565:exon3:c.A241G:p.R81G;	0.999529282466538	0.988
18	907790	A	T	18	907789	y	y	exonic	ADCYAP1	stopgain SNV	ADCYAP1:NM_001099733:exon3:c.A241T:p.R81X;ADCYAP1:NM_001117:exon2:c.A241T:p.R81X;	exonic	ENSG00000141433	stopgain SNV	ENSG00000141433:ENST00000579794:exon2:c.A241T:p.R81X;ENSG00000141433:ENST00000450565:exon3:c.A241T:p.R81X;	0.999713663703058	0.958
18	907791	G	A	18	907790	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.G242A:p.R81K;ADCYAP1:NM_001117:exon2:c.G242A:p.R81K;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.G242A:p.R81K;ENSG00000141433:ENST00000450565:exon3:c.G242A:p.R81K;	0.999913589706532	0.99
18	907791	G	C	18	907790	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.G242C:p.R81T;ADCYAP1:NM_001117:exon2:c.G242C:p.R81T;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.G242C:p.R81T;ENSG00000141433:ENST00000450565:exon3:c.G242C:p.R81T;	0.999981242013694	0.994
18	907791	G	T	18	907790	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon3:c.G242T:p.R81I;ADCYAP1:NM_001117:exon2:c.G242T:p.R81I;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon2:c.G242T:p.R81I;ENSG00000141433:ENST00000450565:exon3:c.G242T:p.R81I;	0.999896909357146	0.934
18	907792	G	A	18	907791	y	y	splicing	ADCYAP1(NM_001099733:exon3:c.242+1G>A;NM_001117:exon2:c.242+1G>A)	.	.	splicing	ENSG00000141433(ENST00000450565:exon3:c.242+1G>A;ENST00000579794:exon2:c.242+1G>A)	.	.	0.999986472513537	0.94
18	907792	G	C	18	907791	y	y	splicing	ADCYAP1(NM_001099733:exon3:c.242+1G>C;NM_001117:exon2:c.242+1G>C)	.	.	splicing	ENSG00000141433(ENST00000450565:exon3:c.242+1G>C;ENST00000579794:exon2:c.242+1G>C)	.	.	0.99996509239462	0.938
18	907792	G	T	18	907791	y	y	splicing	ADCYAP1(NM_001099733:exon3:c.242+1G>T;NM_001117:exon2:c.242+1G>T)	.	.	splicing	ENSG00000141433(ENST00000450565:exon3:c.242+1G>T;ENST00000579794:exon2:c.242+1G>T)	.	.	0.999986472513537	0.938
18	907793	T	A	18	907792	y	y	splicing	ADCYAP1(NM_001099733:exon3:c.242+2T>A;NM_001117:exon2:c.242+2T>A)	.	.	splicing	ENSG00000141433(ENST00000450565:exon3:c.242+2T>A;ENST00000579794:exon2:c.242+2T>A)	.	.	0.999991582404039	0.938
18	907793	T	C	18	907792	y	y	splicing	ADCYAP1(NM_001099733:exon3:c.242+2T>C;NM_001117:exon2:c.242+2T>C)	.	.	splicing	ENSG00000141433(ENST00000450565:exon3:c.242+2T>C;ENST00000579794:exon2:c.242+2T>C)	.	.	0.999826113717039	0.854
18	907793	T	G	18	907792	y	y	splicing	ADCYAP1(NM_001099733:exon3:c.242+2T>G;NM_001117:exon2:c.242+2T>G)	.	.	splicing	ENSG00000141433(ENST00000450565:exon3:c.242+2T>G;ENST00000579794:exon2:c.242+2T>G)	.	.	0.999978278263889	0.936
18	907794	G	A	18	907793	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	9.12623350373869E-4	0.034
18	907794	G	C	18	907793	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0609896955089586	0.522
18	907794	G	T	18	907793	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.409212599965018	0.56
18	907795	A	C	18	907794	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.744113534552844	0.452
18	907795	A	G	18	907794	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.96411184036168	0.654
18	907795	A	T	18	907794	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.986698558189666	0.604
18	907796	G	A	18	907795	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.996243151833284	0.698
18	907796	G	C	18	907795	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.995756032442407	0.666
18	907796	G	T	18	907795	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.998690706809781	0.724
18	907797	A	C	18	907796	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	8.83059556183794E-5	0.024
18	907797	A	G	18	907796	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	8.81784100906254E-5	0.004
18	907797	A	T	18	907796	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	8.80357297891937E-5	0.02
18	907798	T	A	18	907797	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.48871813474135E-5	0.002
18	907798	T	C	18	907797	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.2549006801343E-5	0.008
18	907798	T	G	18	907797	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.2549006801343E-5	0.002
18	907799	T	A	18	907798	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.52416687462197E-4	0.006
18	907799	T	C	18	907798	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	9.64220290645052E-5	0.012
18	907799	T	G	18	907798	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	9.64220290645052E-5	0.008
18	908254	C	A	18	908253	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.11492049153402	0.126
18	908254	C	G	18	908253	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0117091373453024	0.098
18	908254	C	T	18	908253	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.74139530269537E-4	0.046
18	908255	C	A	18	908254	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00271788936924495	0.074
18	908255	C	G	18	908254	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00165825090049044	0.078
18	908255	C	T	18	908254	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.95489927867197E-4	0.002
18	908256	T	A	18	908255	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.966113715359271	0.74
18	908256	T	C	18	908255	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00192757404676874	0.136
18	908256	T	G	18	908255	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.9735230423794	0.758
18	908257	C	A	18	908256	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0461704563151009	0.146
18	908257	C	G	18	908256	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00404315142008673	0.064
18	908257	C	T	18	908256	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.71498370131632E-4	0.01
18	908258	C	A	18	908257	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00209046095035342	0.184
18	908258	C	G	18	908257	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00279779074633283	0.142
18	908258	C	T	18	908257	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	9.18383674237497E-5	0.008
18	908259	C	A	18	908258	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00113377536162973	0.102
18	908259	C	G	18	908258	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00338893836297756	0.158
18	908259	C	T	18	908258	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	5.61470717230185E-5	0.104
18	908260	C	A	18	908259	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.992836716696886	0.566
18	908260	C	G	18	908259	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	4.02286094426344E-4	0.214
18	908260	C	T	18	908259	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	3.35424955387261E-5	0.008
18	908261	G	A	18	908260	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	9.06373861083916E-5	0.002
18	908261	G	C	18	908260	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	3.53058873636875E-5	0.008
18	908261	G	T	18	908260	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	4.39702238700716E-5	0.04
18	908262	T	A	18	908261	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.14120938841293E-4	0.002
18	908262	T	C	18	908261	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	4.72818382381272E-5	0.006
18	908262	T	G	18	908261	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.02277271466322E-5	0.002
18	908263	T	A	18	908262	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.975041765363505	0.614
18	908263	T	C	18	908262	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	8.75612075653194E-5	0.1
18	908263	T	G	18	908262	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.999035937477125	0.748
18	908264	A	C	18	908263	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.243-2A>C;NM_001117:exon3:c.243-2A>C)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.243-2A>C;ENST00000579794:exon3:c.243-2A>C)	.	.	0.999984399620937	0.766
18	908264	A	G	18	908263	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.243-2A>G;NM_001117:exon3:c.243-2A>G)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.243-2A>G;ENST00000579794:exon3:c.243-2A>G)	.	.	0.999984399620937	0.766
18	908264	A	T	18	908263	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.243-2A>T;NM_001117:exon3:c.243-2A>T)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.243-2A>T;ENST00000579794:exon3:c.243-2A>T)	.	.	0.999980255680118	0.754
18	908265	G	A	18	908264	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.243-1G>A;NM_001117:exon3:c.243-1G>A)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.243-1G>A;ENST00000579794:exon3:c.243-1G>A)	.	.	0.999965143305126	0.896
18	908265	G	C	18	908264	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.243-1G>C;NM_001117:exon3:c.243-1G>C)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.243-1G>C;ENST00000579794:exon3:c.243-1G>C)	.	.	0.999965143305126	0.878
18	908265	G	T	18	908264	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.243-1G>T;NM_001117:exon3:c.243-1G>T)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.243-1G>T;ENST00000579794:exon3:c.243-1G>T)	.	.	0.999965143305126	0.892
18	908266	A	C	18	908265	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.A243C:p.R81S;ADCYAP1:NM_001117:exon3:c.A243C:p.R81S;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.A243C:p.R81S;ENSG00000141433:ENST00000450565:exon4:c.A243C:p.R81S;	0.278398652398582	0.506
18	908266	A	G	18	908265	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon4:c.A243G:p.R81R;ADCYAP1:NM_001117:exon3:c.A243G:p.R81R;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.A243G:p.R81R;ENSG00000141433:ENST00000450565:exon4:c.A243G:p.R81R;	0.00155948270281592	0.044
18	908266	A	T	18	908265	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.A243T:p.R81S;ADCYAP1:NM_001117:exon3:c.A243T:p.R81S;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.A243T:p.R81S;ENSG00000141433:ENST00000450565:exon4:c.A243T:p.R81S;	0.198623694051979	0.384
18	908267	G	A	18	908266	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G244A:p.D82N;ADCYAP1:NM_001117:exon3:c.G244A:p.D82N;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G244A:p.D82N;ENSG00000141433:ENST00000450565:exon4:c.G244A:p.D82N;	0.0164239906426182	0.106
18	908267	G	C	18	908266	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G244C:p.D82H;ADCYAP1:NM_001117:exon3:c.G244C:p.D82H;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G244C:p.D82H;ENSG00000141433:ENST00000450565:exon4:c.G244C:p.D82H;	8.9823343021E-4	0.052
18	908267	G	T	18	908266	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G244T:p.D82Y;ADCYAP1:NM_001117:exon3:c.G244T:p.D82Y;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G244T:p.D82Y;ENSG00000141433:ENST00000450565:exon4:c.G244T:p.D82Y;	0.0136414845076386	0.102
18	908362	G	A	18	908361	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon4:c.G339A:p.V113V;ADCYAP1:NM_001117:exon3:c.G339A:p.V113V;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G339A:p.V113V;ENSG00000141433:ENST00000450565:exon4:c.G339A:p.V113V;	3.37839192799217E-4	0.02
18	908362	G	C	18	908361	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon4:c.G339C:p.V113V;ADCYAP1:NM_001117:exon3:c.G339C:p.V113V;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G339C:p.V113V;ENSG00000141433:ENST00000450565:exon4:c.G339C:p.V113V;	4.70978469213107E-4	0.014
18	908362	G	T	18	908361	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon4:c.G339T:p.V113V;ADCYAP1:NM_001117:exon3:c.G339T:p.V113V;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G339T:p.V113V;ENSG00000141433:ENST00000450565:exon4:c.G339T:p.V113V;	6.92623778399832E-4	0.078
18	908363	G	A	18	908362	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G340A:p.G114S;ADCYAP1:NM_001117:exon3:c.G340A:p.G114S;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G340A:p.G114S;ENSG00000141433:ENST00000450565:exon4:c.G340A:p.G114S;	0.116772636190602	0.426
18	908363	G	C	18	908362	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G340C:p.G114R;ADCYAP1:NM_001117:exon3:c.G340C:p.G114R;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G340C:p.G114R;ENSG00000141433:ENST00000450565:exon4:c.G340C:p.G114R;	0.243412155479443	0.418
18	908363	G	T	18	908362	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G340T:p.G114C;ADCYAP1:NM_001117:exon3:c.G340T:p.G114C;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G340T:p.G114C;ENSG00000141433:ENST00000450565:exon4:c.G340T:p.G114C;	0.204856198972788	0.396
18	908364	G	A	18	908363	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G341A:p.G114D;ADCYAP1:NM_001117:exon3:c.G341A:p.G114D;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G341A:p.G114D;ENSG00000141433:ENST00000450565:exon4:c.G341A:p.G114D;	0.999991658220094	1.0
18	908364	G	C	18	908363	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G341C:p.G114A;ADCYAP1:NM_001117:exon3:c.G341C:p.G114A;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G341C:p.G114A;ENSG00000141433:ENST00000450565:exon4:c.G341C:p.G114A;	0.999996849704514	0.976
18	908364	G	T	18	908363	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon4:c.G341T:p.G114V;ADCYAP1:NM_001117:exon3:c.G341T:p.G114V;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon3:c.G341T:p.G114V;ENSG00000141433:ENST00000450565:exon4:c.G341T:p.G114V;	0.999990787044304	1.0
18	908365	G	A	18	908364	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.341+1G>A;NM_001117:exon3:c.341+1G>A)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.341+1G>A;ENST00000579794:exon3:c.341+1G>A)	.	.	0.999986675681007	0.944
18	908365	G	C	18	908364	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.341+1G>C;NM_001117:exon3:c.341+1G>C)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.341+1G>C;ENST00000579794:exon3:c.341+1G>C)	.	.	0.999986675681007	0.944
18	908365	G	T	18	908364	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.341+1G>T;NM_001117:exon3:c.341+1G>T)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.341+1G>T;ENST00000579794:exon3:c.341+1G>T)	.	.	0.999986675681007	0.944
18	908366	T	A	18	908365	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.341+2T>A;NM_001117:exon3:c.341+2T>A)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.341+2T>A;ENST00000579794:exon3:c.341+2T>A)	.	.	0.999989917668626	0.934
18	908366	T	C	18	908365	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.341+2T>C;NM_001117:exon3:c.341+2T>C)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.341+2T>C;ENST00000579794:exon3:c.341+2T>C)	.	.	0.999912237614653	0.906
18	908366	T	G	18	908365	y	y	splicing	ADCYAP1(NM_001099733:exon4:c.341+2T>G;NM_001117:exon3:c.341+2T>G)	.	.	splicing	ENSG00000141433(ENST00000450565:exon4:c.341+2T>G;ENST00000579794:exon3:c.341+2T>G)	.	.	0.999989917668626	0.934
18	908367	A	C	18	908366	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.999790454390043	0.992
18	908367	A	G	18	908366	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.969046479453295	0.722
18	908367	A	T	18	908366	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.999785390618361	0.984
18	908368	A	C	18	908367	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.997394814185527	0.938
18	908368	A	G	18	908367	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.996366435465978	0.952
18	908368	A	T	18	908367	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.996687274977102	0.93
18	908369	G	A	18	908368	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.999766832918698	0.998
18	908369	G	C	18	908368	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.999059191205408	0.976
18	908369	G	T	18	908368	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.999633120036283	0.98
18	908370	A	C	18	908369	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0097019836204805	0.08
18	908370	A	G	18	908369	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	3.09214716863357E-4	0.0
18	908370	A	T	18	908369	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	4.96433289809567E-4	0.004
18	908371	G	A	18	908370	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0139574835219759	0.022
18	908371	G	C	18	908370	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00947466328371033	0.03
18	908371	G	T	18	908370	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0517870400227992	0.16
18	908372	T	A	18	908371	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	3.38817715518695E-5	0.016
18	908372	T	C	18	908371	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.21024921564711E-5	0.016
18	908372	T	G	18	908371	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.17211501490746E-5	0.016
18	909435	C	A	18	909434	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.96394083913187E-4	0.068
18	909435	C	G	18	909434	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.27332296199707E-4	0.102
18	909435	C	T	18	909434	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	4.10593893388864E-5	0.0
18	909436	T	A	18	909435	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0106317632559377	0.282
18	909436	T	C	18	909435	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	4.29656492735236E-4	0.054
18	909436	T	G	18	909435	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0135293070547024	0.19
18	909437	T	A	18	909436	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	5.07498382673202E-4	0.094
18	909437	T	C	18	909436	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.00174497065497E-4	0.086
18	909437	T	G	18	909436	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	4.26608433427461E-4	0.11
18	909438	T	A	18	909437	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.999911757024585	0.984
18	909438	T	C	18	909437	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	2.51578662538775E-4	0.036
18	909438	T	G	18	909437	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0103764941339577	0.084
18	909439	G	A	18	909438	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	3.50484905557985E-5	0.004
18	909439	G	C	18	909438	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.59048414960465E-5	0.01
18	909439	G	T	18	909438	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.25401550349218E-5	0.0
18	909440	C	A	18	909439	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00290676805802934	0.118
18	909440	C	G	18	909439	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00254466211162838	0.118
18	909440	C	T	18	909439	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	5.77288988202642E-5	0.004
18	909441	T	A	18	909440	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0111768353763428	0.066
18	909441	T	C	18	909440	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	6.18325907078091E-5	0.022
18	909441	T	G	18	909440	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00167905926420581	0.076
18	909442	T	A	18	909441	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.995974912853354	0.95
18	909442	T	C	18	909441	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	1.4201386168626E-5	0.004
18	909442	T	G	18	909441	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0246912734941668	0.21
18	909443	G	A	18	909442	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	9.08279945447709E-4	0.058
18	909443	G	C	18	909442	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	6.53382055879566E-4	0.032
18	909443	G	T	18	909442	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.0015180259848905	0.046
18	909444	C	A	18	909443	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.989858091472822	0.84
18	909444	C	G	18	909443	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.999882588718268	0.978
18	909444	C	T	18	909443	y	y	intronic	ADCYAP1	.	.	intronic	ENSG00000141433	.	.	0.00983386621179601	0.36
18	909445	A	C	18	909444	y	y	splicing	ADCYAP1(NM_001099733:exon5:c.342-2A>C;NM_001117:exon4:c.342-2A>C)	.	.	splicing	ENSG00000141433(ENST00000450565:exon5:c.342-2A>C;ENST00000579794:exon4:c.342-2A>C)	.	.	0.999989378869813	0.762
18	909445	A	G	18	909444	y	y	splicing	ADCYAP1(NM_001099733:exon5:c.342-2A>G;NM_001117:exon4:c.342-2A>G)	.	.	splicing	ENSG00000141433(ENST00000450565:exon5:c.342-2A>G;ENST00000579794:exon4:c.342-2A>G)	.	.	0.999989378869813	0.762
18	909445	A	T	18	909444	y	y	splicing	ADCYAP1(NM_001099733:exon5:c.342-2A>T;NM_001117:exon4:c.342-2A>T)	.	.	splicing	ENSG00000141433(ENST00000450565:exon5:c.342-2A>T;ENST00000579794:exon4:c.342-2A>T)	.	.	0.999989378869813	0.76
18	909446	G	A	18	909445	y	y	splicing	ADCYAP1(NM_001099733:exon5:c.342-1G>A;NM_001117:exon4:c.342-1G>A)	.	.	splicing	ENSG00000141433(ENST00000450565:exon5:c.342-1G>A;ENST00000579794:exon4:c.342-1G>A)	.	.	0.999987958061382	0.764
18	909446	G	C	18	909445	y	y	splicing	ADCYAP1(NM_001099733:exon5:c.342-1G>C;NM_001117:exon4:c.342-1G>C)	.	.	splicing	ENSG00000141433(ENST00000450565:exon5:c.342-1G>C;ENST00000579794:exon4:c.342-1G>C)	.	.	0.999987958061382	0.766
18	909446	G	T	18	909445	y	y	splicing	ADCYAP1(NM_001099733:exon5:c.342-1G>T;NM_001117:exon4:c.342-1G>T)	.	.	splicing	ENSG00000141433(ENST00000450565:exon5:c.342-1G>T;ENST00000579794:exon4:c.342-1G>T)	.	.	0.999987958061382	0.764
18	909447	T	A	18	909446	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon5:c.T342A:p.G114G;ADCYAP1:NM_001117:exon4:c.T342A:p.G114G;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon4:c.T342A:p.G114G;ENSG00000141433:ENST00000450565:exon5:c.T342A:p.G114G;	1.31378247454735E-5	0.0
18	909447	T	C	18	909446	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon5:c.T342C:p.G114G;ADCYAP1:NM_001117:exon4:c.T342C:p.G114G;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon4:c.T342C:p.G114G;ENSG00000141433:ENST00000450565:exon5:c.T342C:p.G114G;	8.65663518666214E-5	0.012
18	909447	T	G	18	909446	y	y	exonic	ADCYAP1	synonymous SNV	ADCYAP1:NM_001099733:exon5:c.T342G:p.G114G;ADCYAP1:NM_001117:exon4:c.T342G:p.G114G;	exonic	ENSG00000141433	synonymous SNV	ENSG00000141433:ENST00000579794:exon4:c.T342G:p.G114G;ENSG00000141433:ENST00000450565:exon5:c.T342G:p.G114G;	3.00849535569933E-5	0.078
18	909448	G	A	18	909447	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon5:c.G343A:p.G115R;ADCYAP1:NM_001117:exon4:c.G343A:p.G115R;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon4:c.G343A:p.G115R;ENSG00000141433:ENST00000450565:exon5:c.G343A:p.G115R;	0.00134530517293315	0.128
18	909448	G	C	18	909447	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon5:c.G343C:p.G115R;ADCYAP1:NM_001117:exon4:c.G343C:p.G115R;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon4:c.G343C:p.G115R;ENSG00000141433:ENST00000450565:exon5:c.G343C:p.G115R;	0.0012035948905909	0.024
18	909448	G	T	18	909447	y	y	exonic	ADCYAP1	nonsynonymous SNV	ADCYAP1:NM_001099733:exon5:c.G343T:p.G115W;ADCYAP1:NM_001117:exon4:c.G343T:p.G115W;	exonic	ENSG00000141433	nonsynonymous SNV	ENSG00000141433:ENST00000579794:exon4:c.G343T:p.G115W;ENSG00000141433:ENST00000450565:exon5:c.G343T:p.G115W;	0.00152561267163638	0.02
18	2539143	C	A	18	2539144	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon9:c.G1275T:p.E425D;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon8:c.G1183T:p.G395C;ENSG00000101574:ENST00000574538:exon9:c.G1275T:p.E425D;	3.92924467516742E-5	0.006
18	2539143	C	G	18	2539144	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon9:c.G1275C:p.E425D;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon8:c.G1183C:p.G395R;ENSG00000101574:ENST00000574538:exon9:c.G1275C:p.E425D;	1.77050079097733E-5	0.004
18	2539143	C	T	18	2539144	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon9:c.G1275A:p.E425E;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon8:c.G1183A:p.G395S;	2.83426635560949E-5	0.004
18	2539144	T	A	18	2539145	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon9:c.A1274T:p.E425V;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon8:c.A1182T:p.R394S;ENSG00000101574:ENST00000574538:exon9:c.A1274T:p.E425V;	0.00356386341383253	0.124
18	2539144	T	C	18	2539145	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon9:c.A1274G:p.E425G;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon9:c.A1274G:p.E425G;	2.51228868267035E-4	0.03
18	2539144	T	G	18	2539145	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon9:c.A1274C:p.E425A;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon8:c.A1182C:p.R394S;ENSG00000101574:ENST00000574538:exon9:c.A1274C:p.E425A;	0.47054355694235	0.556
18	2539145	C	A	18	2539146	y	y	splicing	METTL4(NM_022840:exon10:c.1274-1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon9:c.1182-1G>T;ENST00000576251:exon5:c.270-1G>T;ENST00000574538:exon10:c.1274-1G>T)	.	.	0.999916487880886	0.966
18	2539145	C	G	18	2539146	y	y	splicing	METTL4(NM_022840:exon10:c.1274-1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon9:c.1182-1G>C;ENST00000576251:exon5:c.270-1G>C;ENST00000574538:exon10:c.1274-1G>C)	.	.	0.999916487880886	0.968
18	2539145	C	T	18	2539146	y	y	splicing	METTL4(NM_022840:exon10:c.1274-1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon9:c.1182-1G>A;ENST00000576251:exon5:c.270-1G>A;ENST00000574538:exon10:c.1274-1G>A)	.	.	0.999916487880886	0.97
18	2539146	T	A	18	2539147	y	y	splicing	METTL4(NM_022840:exon10:c.1274-2A>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon9:c.1182-2A>T;ENST00000576251:exon5:c.270-2A>T;ENST00000574538:exon10:c.1274-2A>T)	.	.	0.999978156327223	0.958
18	2539146	T	C	18	2539147	y	y	splicing	METTL4(NM_022840:exon10:c.1274-2A>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon9:c.1182-2A>G;ENST00000576251:exon5:c.270-2A>G;ENST00000574538:exon10:c.1274-2A>G)	.	.	0.999970104448312	0.92
18	2539146	T	G	18	2539147	y	y	splicing	METTL4(NM_022840:exon10:c.1274-2A>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon9:c.1182-2A>C;ENST00000576251:exon5:c.270-2A>C;ENST00000574538:exon10:c.1274-2A>C)	.	.	0.999982151912279	0.918
18	2539147	G	A	18	2539148	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00645356670765008	0.164
18	2539147	G	C	18	2539148	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999862396602561	0.886
18	2539147	G	T	18	2539148	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.99640946160048	0.804
18	2539148	T	A	18	2539149	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.63289646891942E-4	0.082
18	2539148	T	C	18	2539149	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.982016102663396	0.678
18	2539148	T	G	18	2539149	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.98340848003615E-4	0.048
18	2539149	T	A	18	2539150	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.05099179410087E-5	0.096
18	2539149	T	C	18	2539150	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.9753838021967	0.532
18	2539149	T	G	18	2539150	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.92742607383755E-5	0.302
18	2539150	T	A	18	2539151	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.32186368474212E-5	0.002
18	2539150	T	C	18	2539151	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.26412252493421E-5	0.002
18	2539150	T	G	18	2539151	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.31592256205102E-5	0.014
18	2539151	A	C	18	2539152	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0289009330712907	0.276
18	2539151	A	G	18	2539152	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.81716013755919E-5	0.06
18	2539151	A	T	18	2539152	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.065356245890895	0.348
18	2539152	A	C	18	2539153	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.03862278044216	0.342
18	2539152	A	G	18	2539153	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.22902788953057E-4	0.048
18	2539152	A	T	18	2539153	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.389655554107348	0.394
18	2539153	A	C	18	2539154	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00440545707770771	0.37
18	2539153	A	G	18	2539154	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.98442850565829E-5	0.034
18	2539153	A	T	18	2539154	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0107603472430753	0.388
18	2539154	A	C	18	2539155	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0153098684791812	0.466
18	2539154	A	G	18	2539155	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.11701962607325E-4	0.058
18	2539154	A	T	18	2539155	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.201242196307646	0.438
18	2539155	A	C	18	2539156	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.166773130416773	0.372
18	2539155	A	G	18	2539156	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.0502170797772E-4	0.024
18	2539155	A	T	18	2539156	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0671667470354012	0.35
18	2539156	A	C	18	2539157	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0134649878073458	0.47
18	2539156	A	G	18	2539157	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.76947961856627E-4	0.1
18	2539156	A	T	18	2539157	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.218647643155421	0.472
18	2544186	A	C	18	2544187	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.09493086988143E-4	0.026
18	2544186	A	G	18	2544187	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.90633355831063E-5	0.0
18	2544186	A	T	18	2544187	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.05860192417078E-4	0.026
18	2544187	A	C	18	2544188	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.56038795612366E-4	0.024
18	2544187	A	G	18	2544188	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.98170440554053E-4	0.024
18	2544187	A	T	18	2544188	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00118170445683766	0.022
18	2544188	A	C	18	2544189	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0154083095495414	0.22
18	2544188	A	G	18	2544189	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0731257449595704	0.248
18	2544188	A	T	18	2544189	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0350520941343059	0.196
18	2544189	C	A	18	2544190	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999513126586225	0.844
18	2544189	C	G	18	2544190	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999953086793963	0.938
18	2544189	C	T	18	2544190	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999030425346548	0.786
18	2544190	A	C	18	2544191	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.09438581319336E-5	0.01
18	2544190	A	G	18	2544191	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.20878293669497E-4	0.026
18	2544190	A	T	18	2544191	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.28900017249783E-4	0.132
18	2544191	T	A	18	2544192	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.998580838699121	0.812
18	2544191	T	C	18	2544192	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.975950123151271	0.694
18	2544191	T	G	18	2544192	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.9996181622437	0.824
18	2544192	A	C	18	2544193	y	y	splicing	METTL4(NM_022840:exon9:c.1273+2T>G)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1273+2T>G)	.	.	0.999929575678921	0.766
18	2544192	A	G	18	2544193	y	y	splicing	METTL4(NM_022840:exon9:c.1273+2T>C)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1273+2T>C)	.	.	0.904571879970662	0.498
18	2544192	A	T	18	2544193	y	y	splicing	METTL4(NM_022840:exon9:c.1273+2T>A)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1273+2T>A)	.	.	0.999946001720132	0.75
18	2544193	C	A	18	2544194	y	y	splicing	METTL4(NM_022840:exon9:c.1273+1G>T)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1273+1G>T)	.	.	0.999938990645747	0.948
18	2544193	C	G	18	2544194	y	y	splicing	METTL4(NM_022840:exon9:c.1273+1G>C)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1273+1G>C)	.	.	0.999938990645747	0.946
18	2544193	C	T	18	2544194	y	y	splicing	METTL4(NM_022840:exon9:c.1273+1G>A)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1273+1G>A)	.	.	0.999938422912956	0.948
18	2544194	C	A	18	2544195	y	y	exonic	METTL4	stopgain SNV	METTL4:NM_022840:exon8:c.G1273T:p.E425X;	exonic	ENSG00000101574	stopgain SNV	ENSG00000101574:ENST00000574538:exon8:c.G1273T:p.E425X;	0.999966939846511	0.992
18	2544194	C	G	18	2544195	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.G1273C:p.E425Q;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.G1273C:p.E425Q;	0.999973902542252	0.988
18	2544194	C	T	18	2544195	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.G1273A:p.E425K;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.G1273A:p.E425K;	0.999935695697474	0.996
18	2544195	A	C	18	2544196	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon8:c.T1272G:p.A424A;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.T1272G:p.A424A;	7.59970364215247E-4	0.098
18	2544195	A	G	18	2544196	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon8:c.T1272C:p.A424A;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.T1272C:p.A424A;	4.11432743264396E-4	0.048
18	2544195	A	T	18	2544196	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon8:c.T1272A:p.A424A;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.T1272A:p.A424A;	0.00199855101981515	0.202
18	2544196	G	A	18	2544197	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.C1271T:p.A424V;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.C1271T:p.A424V;	0.989701116651849	0.768
18	2544196	G	C	18	2544197	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.C1271G:p.A424G;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.C1271G:p.A424G;	0.00865973658033781	0.138
18	2544196	G	T	18	2544197	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.C1271A:p.A424D;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.C1271A:p.A424D;	0.010082948272854	0.152
18	2544284	T	A	18	2544285	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.A1183T:p.N395Y;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.A1183T:p.N395Y;	3.38444448181884E-4	0.004
18	2544284	T	C	18	2544285	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.A1183G:p.N395D;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.A1183G:p.N395D;	3.98139080386178E-5	0.028
18	2544284	T	G	18	2544285	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.A1183C:p.N395H;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.A1183C:p.N395H;	6.36852360651314E-5	0.024
18	2544285	C	A	18	2544286	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.G1182T:p.R394S;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.G1182T:p.R394S;	0.991107457870754	0.612
18	2544285	C	G	18	2544286	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon8:c.G1182C:p.R394S;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.G1182C:p.R394S;	0.982078584266992	0.636
18	2544285	C	T	18	2544286	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon8:c.G1182A:p.R394R;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000574538:exon8:c.G1182A:p.R394R;	0.0572897899991115	0.322
18	2544286	C	A	18	2544287	y	y	splicing	METTL4(NM_022840:exon9:c.1182-1G>T)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1182-1G>T)	.	.	0.999935804737287	0.772
18	2544286	C	G	18	2544287	y	y	splicing	METTL4(NM_022840:exon9:c.1182-1G>C)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1182-1G>C)	.	.	0.999935804737287	0.772
18	2544286	C	T	18	2544287	y	y	splicing	METTL4(NM_022840:exon9:c.1182-1G>A)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1182-1G>A)	.	.	0.999929609571291	0.772
18	2544287	T	A	18	2544288	y	y	splicing	METTL4(NM_022840:exon9:c.1182-2A>T)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1182-2A>T)	.	.	0.999980255680118	0.774
18	2544287	T	C	18	2544288	y	y	splicing	METTL4(NM_022840:exon9:c.1182-2A>G)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1182-2A>G)	.	.	0.999980255680118	0.736
18	2544287	T	G	18	2544288	y	y	splicing	METTL4(NM_022840:exon9:c.1182-2A>C)	.	.	splicing	ENSG00000101574(ENST00000574538:exon9:c.1182-2A>C)	.	.	0.999980255680118	0.734
18	2544288	A	C	18	2544289	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.997540291483433	0.734
18	2544288	A	G	18	2544289	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.59742799066171E-5	0.078
18	2544288	A	T	18	2544289	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00699702727270619	0.376
18	2544289	A	C	18	2544290	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.785366155752083	0.58
18	2544289	A	G	18	2544290	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.17997825993759E-5	0.06
18	2544289	A	T	18	2544290	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.64400238866232E-5	0.05
18	2544290	T	A	18	2544291	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.5843571407171E-5	0.088
18	2544290	T	C	18	2544291	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.995197094416167	0.724
18	2544290	T	G	18	2544291	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.39639862821938E-5	0.004
18	2544291	T	A	18	2544292	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.04841008191689E-5	0.026
18	2544291	T	C	18	2544292	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	9.10984732526323E-6	0.012
18	2544291	T	G	18	2544292	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.04841008191689E-5	0.002
18	2544292	A	C	18	2544293	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00908199169625337	0.234
18	2544292	A	G	18	2544293	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.92721821047253E-5	0.032
18	2544292	A	T	18	2544293	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0183917508997919	0.23
18	2544293	A	C	18	2544294	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00174494600567047	0.198
18	2544293	A	G	18	2544294	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.19218928058708E-5	0.004
18	2544293	A	T	18	2544294	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00279446016797671	0.172
18	2544294	A	C	18	2544295	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.75740101802589	0.462
18	2544294	A	G	18	2544295	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00160595731299755	0.07
18	2544294	A	T	18	2544295	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.437269319183708	0.438
18	2544295	C	A	18	2544296	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.06587450790854E-4	0.018
18	2544295	C	G	18	2544296	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.82111501637353E-5	0.026
18	2544295	C	T	18	2544296	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.90618722071863E-4	0.062
18	2544296	A	C	18	2544297	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.648471681722729	0.576
18	2544296	A	G	18	2544297	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00397442407712234	0.24
18	2544296	A	T	18	2544297	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999924382774371	0.956
18	2544297	G	A	18	2544298	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.08968436393553E-5	0.0
18	2544297	G	C	18	2544298	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.52623022690704E-5	0.038
18	2544297	G	T	18	2544298	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.80709406318956E-4	0.078
18	2544644	T	A	18	2544645	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.15186968005728E-4	0.066
18	2544644	T	C	18	2544645	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.16316905500427E-5	0.014
18	2544644	T	G	18	2544645	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.79987593793092E-4	0.02
18	2544645	T	A	18	2544646	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.5069296701705E-5	0.016
18	2544645	T	C	18	2544646	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.68641647132182E-5	0.01
18	2544645	T	G	18	2544646	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.16316905500427E-5	0.012
18	2544646	T	A	18	2544647	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.08499170558641E-4	0.01
18	2544646	T	C	18	2544647	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.42890746139915E-4	0.004
18	2544646	T	G	18	2544647	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00171359072664178	0.048
18	2544647	C	A	18	2544648	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999787375064278	0.742
18	2544647	C	G	18	2544648	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999468041599944	0.816
18	2544647	C	T	18	2544648	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.998761285037648	0.78
18	2544648	C	A	18	2544649	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.31272203412844E-5	0.022
18	2544648	C	G	18	2544649	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.31272203412844E-5	0.022
18	2544648	C	T	18	2544649	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.87976661361736E-5	0.1
18	2544649	T	A	18	2544650	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.992210009530836	0.892
18	2544649	T	C	18	2544650	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.922663370155526	0.61
18	2544649	T	G	18	2544650	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.996669197066993	0.886
18	2544650	A	C	18	2544651	y	y	splicing	METTL4(NM_022840:exon8:c.1181+2T>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1181+2T>G;ENST00000574538:exon8:c.1181+2T>G)	.	.	0.999980255680118	0.742
18	2544650	A	G	18	2544651	y	y	splicing	METTL4(NM_022840:exon8:c.1181+2T>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1181+2T>C;ENST00000574538:exon8:c.1181+2T>C)	.	.	0.88295671941412	0.514
18	2544650	A	T	18	2544651	y	y	splicing	METTL4(NM_022840:exon8:c.1181+2T>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1181+2T>A;ENST00000574538:exon8:c.1181+2T>A)	.	.	0.999980255680118	0.79
18	2544651	C	A	18	2544652	y	y	splicing	METTL4(NM_022840:exon8:c.1181+1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1181+1G>T;ENST00000574538:exon8:c.1181+1G>T)	.	.	0.999879354703452	0.862
18	2544651	C	G	18	2544652	y	y	splicing	METTL4(NM_022840:exon8:c.1181+1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1181+1G>C;ENST00000574538:exon8:c.1181+1G>C)	.	.	0.999879354703452	0.852
18	2544651	C	T	18	2544652	y	y	splicing	METTL4(NM_022840:exon8:c.1181+1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1181+1G>A;ENST00000574538:exon8:c.1181+1G>A)	.	.	0.999879354703452	0.86
18	2544652	C	A	18	2544653	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.G1181T:p.R394M;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.G1181T:p.R394I;ENSG00000101574:ENST00000574538:exon7:c.G1181T:p.R394M;	0.999983975425153	0.988
18	2544652	C	G	18	2544653	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.G1181C:p.R394T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.G1181C:p.R394T;ENSG00000101574:ENST00000574538:exon7:c.G1181C:p.R394T;	0.999983509078753	0.99
18	2544652	C	T	18	2544653	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.G1181A:p.R394K;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.G1181A:p.R394K;ENSG00000101574:ENST00000574538:exon7:c.G1181A:p.R394K;	0.999942606770422	0.994
18	2544653	T	A	18	2544654	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.A1180T:p.R394W;	exonic	ENSG00000101574	stopgain SNV	ENSG00000101574:ENST00000319888:exon7:c.A1180T:p.R394X;	0.999884436261383	0.93
18	2544653	T	C	18	2544654	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.A1180G:p.R394G;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.A1180G:p.R394G;ENSG00000101574:ENST00000574538:exon7:c.A1180G:p.R394G;	0.99902768215742	0.946
18	2544653	T	G	18	2544654	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon7:c.A1180C:p.R394R;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.A1180C:p.R394R;ENSG00000101574:ENST00000574538:exon7:c.A1180C:p.R394R;	0.511164781734701	0.532
18	2544654	C	A	18	2544655	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.G1179T:p.L393F;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.G1179T:p.L393F;ENSG00000101574:ENST00000574538:exon7:c.G1179T:p.L393F;	0.00125785537790723	0.088
18	2544654	C	G	18	2544655	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.G1179C:p.L393F;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.G1179C:p.L393F;ENSG00000101574:ENST00000574538:exon7:c.G1179C:p.L393F;	1.75890381288068E-5	0.004
18	2544654	C	T	18	2544655	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon7:c.G1179A:p.L393L;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.G1179A:p.L393L;ENSG00000101574:ENST00000574538:exon7:c.G1179A:p.L393L;	1.10191135504396E-5	0.076
18	2544757	A	C	18	2544758	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.T1076G:p.I359R;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.T1076G:p.I359R;ENSG00000101574:ENST00000574538:exon7:c.T1076G:p.I359R;	0.081951822087316	0.284
18	2544757	A	G	18	2544758	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.T1076C:p.I359T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.T1076C:p.I359T;ENSG00000101574:ENST00000574538:exon7:c.T1076C:p.I359T;	0.193144357376302	0.382
18	2544757	A	T	18	2544758	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.T1076A:p.I359K;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.T1076A:p.I359K;ENSG00000101574:ENST00000574538:exon7:c.T1076A:p.I359K;	0.15893242660474	0.352
18	2544758	T	A	18	2544759	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.A1075T:p.I359L;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.A1075T:p.I359L;ENSG00000101574:ENST00000574538:exon7:c.A1075T:p.I359L;	0.133910233377902	0.454
18	2544758	T	C	18	2544759	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.A1075G:p.I359V;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.A1075G:p.I359V;ENSG00000101574:ENST00000574538:exon7:c.A1075G:p.I359V;	5.91842066666154E-4	0.028
18	2544758	T	G	18	2544759	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon7:c.A1075C:p.I359L;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon7:c.A1075C:p.I359L;ENSG00000101574:ENST00000574538:exon7:c.A1075C:p.I359L;	0.396393436227996	0.534
18	2544759	C	A	18	2544760	y	y	splicing	METTL4(NM_022840:exon8:c.1075-1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1075-1G>T;ENST00000574538:exon8:c.1075-1G>T)	.	.	0.999938990645747	0.968
18	2544759	C	G	18	2544760	y	y	splicing	METTL4(NM_022840:exon8:c.1075-1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1075-1G>C;ENST00000574538:exon8:c.1075-1G>C)	.	.	0.999938990645747	0.966
18	2544759	C	T	18	2544760	y	y	splicing	METTL4(NM_022840:exon8:c.1075-1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1075-1G>A;ENST00000574538:exon8:c.1075-1G>A)	.	.	0.999938422912956	0.968
18	2544760	T	A	18	2544761	y	y	splicing	METTL4(NM_022840:exon8:c.1075-2A>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1075-2A>T;ENST00000574538:exon8:c.1075-2A>T)	.	.	0.999967305459904	0.956
18	2544760	T	C	18	2544761	y	y	splicing	METTL4(NM_022840:exon8:c.1075-2A>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1075-2A>G;ENST00000574538:exon8:c.1075-2A>G)	.	.	0.999978672009528	0.956
18	2544760	T	G	18	2544761	y	y	splicing	METTL4(NM_022840:exon8:c.1075-2A>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon8:c.1075-2A>C;ENST00000574538:exon8:c.1075-2A>C)	.	.	0.999978672009528	0.956
18	2544761	G	A	18	2544762	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00307964320749986	0.11
18	2544761	G	C	18	2544762	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999919003003065	0.944
18	2544761	G	T	18	2544762	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.994232715935953	0.8
18	2544762	A	C	18	2544763	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.694061211662931	0.608
18	2544762	A	G	18	2544763	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.71879658142507E-5	0.0
18	2544762	A	T	18	2544763	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.30622764887382E-4	0.002
18	2544763	T	A	18	2544764	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.2542627861457E-5	0.008
18	2544763	T	C	18	2544764	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.76416454979694E-5	0.002
18	2544763	T	G	18	2544764	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.27283365907769E-5	0.002
18	2544764	A	C	18	2544765	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.065923195021123	0.262
18	2544764	A	G	18	2544765	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.2520224903527E-4	0.028
18	2544764	A	T	18	2544765	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.108227954626729	0.256
18	2544765	G	A	18	2544766	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.53402351437388E-5	0.004
18	2544765	G	C	18	2544766	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	9.99984690441433E-4	0.11
18	2544765	G	T	18	2544766	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.78582877243099E-4	0.076
18	2544766	G	A	18	2544767	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.21556386325966E-5	0.006
18	2544766	G	C	18	2544767	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.50042701287321E-4	0.064
18	2544766	G	T	18	2544767	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.32281010732061E-5	0.066
18	2544767	A	C	18	2544768	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00206456572774419	0.08
18	2544767	A	G	18	2544768	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.56443999013591E-5	0.006
18	2544767	A	T	18	2544768	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00498949167568392	0.098
18	2544768	A	C	18	2544769	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0423760964523355	0.336
18	2544768	A	G	18	2544769	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00133911097603146	0.076
18	2544768	A	T	18	2544769	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0905537194048395	0.38
18	2544769	G	A	18	2544770	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.94952033767512E-5	0.002
18	2544769	G	C	18	2544770	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00230257631752317	0.064
18	2544769	G	T	18	2544770	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.37087372922266E-4	0.074
18	2544770	G	A	18	2544771	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.17412744740018E-5	0.0
18	2544770	G	C	18	2544771	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.16040707613336E-4	0.052
18	2544770	G	T	18	2544771	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00239343549575961	0.09
18	2547346	G	A	18	2547347	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.51383879749987E-5	0.0
18	2547346	G	C	18	2547347	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.71037690926497E-5	0.002
18	2547346	G	T	18	2547347	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.71037690926497E-5	0.0
18	2547347	A	C	18	2547348	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.0670753206699E-4	0.006
18	2547347	A	G	18	2547348	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.0670753206699E-4	0.006
18	2547347	A	T	18	2547348	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.0670753206699E-4	0.006
18	2547348	A	C	18	2547349	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.287345275068071	0.498
18	2547348	A	G	18	2547349	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.499186911089187	0.592
18	2547348	A	T	18	2547349	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.585667590948761	0.526
18	2547349	C	A	18	2547350	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.997562254697201	0.752
18	2547349	C	G	18	2547350	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.998061535237935	0.716
18	2547349	C	T	18	2547350	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.991713662054984	0.748
18	2547350	T	A	18	2547351	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.642387087683477	0.436
18	2547350	T	C	18	2547351	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.57983965827857	0.484
18	2547350	T	G	18	2547351	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.472355938771022	0.436
18	2547351	T	A	18	2547352	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.977575260249549	0.722
18	2547351	T	C	18	2547352	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00460419631429607	0.262
18	2547351	T	G	18	2547352	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999657907757265	0.876
18	2547352	A	C	18	2547353	y	y	splicing	METTL4(NM_022840:exon7:c.1074+2T>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.1074+2T>G;ENST00000576251:exon4:c.269+2T>G;ENST00000574538:exon7:c.1074+2T>G)	.	.	0.999978952611685	0.928
18	2547352	A	G	18	2547353	y	y	splicing	METTL4(NM_022840:exon7:c.1074+2T>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.1074+2T>C;ENST00000576251:exon4:c.269+2T>C;ENST00000574538:exon7:c.1074+2T>C)	.	.	0.987256086742815	0.658
18	2547352	A	T	18	2547353	y	y	splicing	METTL4(NM_022840:exon7:c.1074+2T>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.1074+2T>A;ENST00000576251:exon4:c.269+2T>A;ENST00000574538:exon7:c.1074+2T>A)	.	.	0.999988247793601	0.926
18	2547353	C	A	18	2547354	y	y	splicing	METTL4(NM_022840:exon7:c.1074+1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.1074+1G>T;ENST00000576251:exon4:c.269+1G>T;ENST00000574538:exon7:c.1074+1G>T)	.	.	0.999968560109063	0.946
18	2547353	C	G	18	2547354	y	y	splicing	METTL4(NM_022840:exon7:c.1074+1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.1074+1G>C;ENST00000576251:exon4:c.269+1G>C;ENST00000574538:exon7:c.1074+1G>C)	.	.	0.999968560109063	0.946
18	2547353	C	T	18	2547354	y	y	splicing	METTL4(NM_022840:exon7:c.1074+1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.1074+1G>A;ENST00000576251:exon4:c.269+1G>A;ENST00000574538:exon7:c.1074+1G>A)	.	.	0.999968560109063	0.936
18	2547354	T	A	18	2547355	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.A1074T:p.K358N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.A1074T:p.K358N;ENSG00000101574:ENST00000574538:exon6:c.A1074T:p.K358N;	1.26983575825746E-4	0.13
18	2547354	T	C	18	2547355	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon6:c.A1074G:p.K358K;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.A1074G:p.K358K;ENSG00000101574:ENST00000574538:exon6:c.A1074G:p.K358K;	2.73068487421829E-5	0.05
18	2547354	T	G	18	2547355	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.A1074C:p.K358N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.A1074C:p.K358N;ENSG00000101574:ENST00000574538:exon6:c.A1074C:p.K358N;	3.82276284550175E-5	0.11
18	2547355	T	A	18	2547356	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.A1073T:p.K358I;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.A1073T:p.K358I;ENSG00000101574:ENST00000574538:exon6:c.A1073T:p.K358I;	0.992230375370396	0.842
18	2547355	T	C	18	2547356	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.A1073G:p.K358R;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.A1073G:p.K358R;ENSG00000101574:ENST00000574538:exon6:c.A1073G:p.K358R;	0.99459460472689	0.928
18	2547355	T	G	18	2547356	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.A1073C:p.K358T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.A1073C:p.K358T;ENSG00000101574:ENST00000574538:exon6:c.A1073C:p.K358T;	0.990656640226012	0.93
18	2547356	T	A	18	2547357	y	y	exonic	METTL4	stopgain SNV	METTL4:NM_022840:exon6:c.A1072T:p.K358X;	exonic	ENSG00000101574	stopgain SNV	ENSG00000101574:ENST00000319888:exon6:c.A1072T:p.K358X;ENSG00000101574:ENST00000574538:exon6:c.A1072T:p.K358X;	0.965832526293663	0.654
18	2547356	T	C	18	2547357	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.A1072G:p.K358E;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.A1072G:p.K358E;ENSG00000101574:ENST00000574538:exon6:c.A1072G:p.K358E;	0.271451332718496	0.414
18	2547356	T	G	18	2547357	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.A1072C:p.K358Q;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.A1072C:p.K358Q;ENSG00000101574:ENST00000574538:exon6:c.A1072C:p.K358Q;	0.719618384826001	0.732
18	2547527	A	C	18	2547528	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.T901G:p.Y301D;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.T901G:p.Y301D;ENSG00000101574:ENST00000574538:exon6:c.T901G:p.Y301D;	0.289180408431314	0.506
18	2547527	A	G	18	2547528	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.T901C:p.Y301H;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.T901C:p.Y301H;ENSG00000101574:ENST00000574538:exon6:c.T901C:p.Y301H;	0.384967134546254	0.5
18	2547527	A	T	18	2547528	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.T901A:p.Y301N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.T901A:p.Y301N;ENSG00000101574:ENST00000574538:exon6:c.T901A:p.Y301N;	0.244392677283822	0.508
18	2547528	C	A	18	2547529	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.G900T:p.R300S;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.G900T:p.R300S;ENSG00000101574:ENST00000574538:exon6:c.G900T:p.R300S;	0.226999945790956	0.518
18	2547528	C	G	18	2547529	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon6:c.G900C:p.R300S;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.G900C:p.R300S;ENSG00000101574:ENST00000574538:exon6:c.G900C:p.R300S;	0.0215084241354396	0.394
18	2547528	C	T	18	2547529	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon6:c.G900A:p.R300R;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon6:c.G900A:p.R300R;ENSG00000101574:ENST00000574538:exon6:c.G900A:p.R300R;	9.21662096947941E-4	0.13
18	2547529	C	A	18	2547530	y	y	splicing	METTL4(NM_022840:exon7:c.900-1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.900-1G>T;ENST00000576251:exon4:c.95-1G>T;ENST00000574538:exon7:c.900-1G>T)	.	.	0.99995545544995	0.944
18	2547529	C	G	18	2547530	y	y	splicing	METTL4(NM_022840:exon7:c.900-1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.900-1G>C;ENST00000576251:exon4:c.95-1G>C;ENST00000574538:exon7:c.900-1G>C)	.	.	0.99995545544995	0.944
18	2547529	C	T	18	2547530	y	y	splicing	METTL4(NM_022840:exon7:c.900-1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.900-1G>A;ENST00000576251:exon4:c.95-1G>A;ENST00000574538:exon7:c.900-1G>A)	.	.	0.99995545544995	0.94
18	2547530	T	A	18	2547531	y	y	splicing	METTL4(NM_022840:exon7:c.900-2A>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.900-2A>T;ENST00000576251:exon4:c.95-2A>T;ENST00000574538:exon7:c.900-2A>T)	.	.	0.999969255906173	0.844
18	2547530	T	C	18	2547531	y	y	splicing	METTL4(NM_022840:exon7:c.900-2A>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.900-2A>G;ENST00000576251:exon4:c.95-2A>G;ENST00000574538:exon7:c.900-2A>G)	.	.	0.999962958601995	0.802
18	2547530	T	G	18	2547531	y	y	splicing	METTL4(NM_022840:exon7:c.900-2A>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon7:c.900-2A>C;ENST00000576251:exon4:c.95-2A>C;ENST00000574538:exon7:c.900-2A>C)	.	.	0.999962958601995	0.806
18	2547531	A	C	18	2547532	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.997271579758642	0.636
18	2547531	A	G	18	2547532	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.23029481428254E-4	0.028
18	2547531	A	T	18	2547532	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0316109490422268	0.176
18	2547532	A	C	18	2547533	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.12604499441341E-5	0.058
18	2547532	A	G	18	2547533	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.81118866814962E-5	0.054
18	2547532	A	T	18	2547533	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.2813987802963E-5	0.064
18	2547533	A	C	18	2547534	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.341818216768303	0.436
18	2547533	A	G	18	2547534	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.41664289111789E-4	0.046
18	2547533	A	T	18	2547534	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.128441922697656	0.448
18	2547534	A	C	18	2547535	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0072868096109376	0.096
18	2547534	A	G	18	2547535	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.44258435073634E-5	0.0
18	2547534	A	T	18	2547535	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00225814815369898	0.074
18	2547535	A	C	18	2547536	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.99788015585923	0.956
18	2547535	A	G	18	2547536	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.68133215594726E-5	0.0
18	2547535	A	T	18	2547536	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00249291522750518	0.18
18	2547536	T	A	18	2547537	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.40886065434894E-5	0.008
18	2547536	T	C	18	2547537	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.32285198450137E-5	0.008
18	2547536	T	G	18	2547537	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.72343166033986E-5	0.006
18	2547537	A	C	18	2547538	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00177206192741826	0.244
18	2547537	A	G	18	2547538	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.2025579573028E-4	0.008
18	2547537	A	T	18	2547538	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00287988228443731	0.222
18	2547538	A	C	18	2547539	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00817486478283909	0.304
18	2547538	A	G	18	2547539	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.19374142054642E-4	0.004
18	2547538	A	T	18	2547539	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0191567340840666	0.286
18	2547539	A	C	18	2547540	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0416996496411336	0.354
18	2547539	A	G	18	2547540	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00114711474285779	0.096
18	2547539	A	T	18	2547540	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0352610813415297	0.35
18	2547540	C	A	18	2547541	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.97018975761258E-5	0.002
18	2547540	C	G	18	2547541	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.46544895738133E-5	0.0
18	2547540	C	T	18	2547541	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.45582919591517E-5	0.0
18	2552686	C	A	18	2552687	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.89210916601576E-5	0.0
18	2552686	C	G	18	2552687	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.89210916601576E-5	0.0
18	2552686	C	T	18	2552687	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.89210916601576E-5	0.0
18	2552687	C	A	18	2552688	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.31551528217136E-5	0.014
18	2552687	C	G	18	2552688	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.81159136363845E-5	0.0
18	2552687	C	T	18	2552688	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.82827935381688E-5	0.0
18	2552688	A	C	18	2552689	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00208927791233723	0.282
18	2552688	A	G	18	2552689	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0241244731217121	0.408
18	2552688	A	T	18	2552689	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0239654646092379	0.31
18	2552689	C	A	18	2552690	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.718647163124425	0.402
18	2552689	C	G	18	2552690	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.803902558133777	0.606
18	2552689	C	T	18	2552690	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.718691239285492	0.482
18	2552690	T	A	18	2552691	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0472744177071997	0.362
18	2552690	T	C	18	2552691	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.185647562303619	0.43
18	2552690	T	G	18	2552691	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.025762551056047	0.316
18	2552691	T	A	18	2552692	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.489060830215376	0.458
18	2552691	T	C	18	2552692	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.96268350899509E-4	0.002
18	2552691	T	G	18	2552692	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.55303568836899	0.498
18	2552692	A	C	18	2552693	y	y	splicing	METTL4(NM_022840:exon6:c.899+2T>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.899+2T>G;ENST00000576251:exon3:c.94+2T>G;ENST00000574538:exon6:c.899+2T>G)	.	.	0.99994568797423	0.946
18	2552692	A	G	18	2552693	y	y	splicing	METTL4(NM_022840:exon6:c.899+2T>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.899+2T>C;ENST00000576251:exon3:c.94+2T>C;ENST00000574538:exon6:c.899+2T>C)	.	.	0.952527091078767	0.694
18	2552692	A	T	18	2552693	y	y	splicing	METTL4(NM_022840:exon6:c.899+2T>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.899+2T>A;ENST00000576251:exon3:c.94+2T>A;ENST00000574538:exon6:c.899+2T>A)	.	.	0.99994568797423	0.942
18	2552693	C	A	18	2552694	y	y	splicing	METTL4(NM_022840:exon6:c.899+1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.899+1G>T;ENST00000576251:exon3:c.94+1G>T;ENST00000574538:exon6:c.899+1G>T)	.	.	0.999982737877662	0.938
18	2552693	C	G	18	2552694	y	y	splicing	METTL4(NM_022840:exon6:c.899+1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.899+1G>C;ENST00000576251:exon3:c.94+1G>C;ENST00000574538:exon6:c.899+1G>C)	.	.	0.999982737877662	0.932
18	2552693	C	T	18	2552694	y	y	splicing	METTL4(NM_022840:exon6:c.899+1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.899+1G>A;ENST00000576251:exon3:c.94+1G>A;ENST00000574538:exon6:c.899+1G>A)	.	.	0.999990361384395	0.938
18	2552694	C	A	18	2552695	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.G899T:p.R300M;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.G899T:p.R300M;ENSG00000101574:ENST00000574538:exon5:c.G899T:p.R300M;	0.991489138107031	0.952
18	2552694	C	G	18	2552695	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.G899C:p.R300T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.G899C:p.R300T;ENSG00000101574:ENST00000574538:exon5:c.G899C:p.R300T;	0.988806368428075	0.882
18	2552694	C	T	18	2552695	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.G899A:p.R300K;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.G899A:p.R300K;ENSG00000101574:ENST00000574538:exon5:c.G899A:p.R300K;	0.384447676368004	0.432
18	2552695	T	A	18	2552696	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.A898T:p.R300W;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.A898T:p.R300W;ENSG00000101574:ENST00000574538:exon5:c.A898T:p.R300W;	0.988249236992916	0.648
18	2552695	T	C	18	2552696	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.A898G:p.R300G;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.A898G:p.R300G;ENSG00000101574:ENST00000574538:exon5:c.A898G:p.R300G;	0.996123066260101	0.936
18	2552695	T	G	18	2552696	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon5:c.A898C:p.R300R;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.A898C:p.R300R;ENSG00000101574:ENST00000574538:exon5:c.A898C:p.R300R;	0.962698265171099	0.724
18	2552696	A	C	18	2552697	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.T897G:p.N299K;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.T897G:p.N299K;ENSG00000101574:ENST00000574538:exon5:c.T897G:p.N299K;	2.39630756586712E-5	0.006
18	2552696	A	G	18	2552697	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon5:c.T897C:p.N299N;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.T897C:p.N299N;ENSG00000101574:ENST00000574538:exon5:c.T897C:p.N299N;	2.34263611897381E-5	0.0
18	2552696	A	T	18	2552697	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.T897A:p.N299K;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.T897A:p.N299K;ENSG00000101574:ENST00000574538:exon5:c.T897A:p.N299K;	1.37163326501772E-5	0.0
18	2552762	A	C	18	2552763	y	y	exonic	METTL4	stopgain SNV	METTL4:NM_022840:exon5:c.T831G:p.Y277X;	exonic	ENSG00000101574	stopgain SNV	ENSG00000101574:ENST00000319888:exon5:c.T831G:p.Y277X;ENSG00000101574:ENST00000574538:exon5:c.T831G:p.Y277X;	0.00116246050524353	0.018
18	2552762	A	G	18	2552763	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon5:c.T831C:p.Y277Y;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.T831C:p.Y277Y;ENSG00000101574:ENST00000574538:exon5:c.T831C:p.Y277Y;	1.53714326427838E-4	0.03
18	2552762	A	T	18	2552763	y	y	exonic	METTL4	stopgain SNV	METTL4:NM_022840:exon5:c.T831A:p.Y277X;	exonic	ENSG00000101574	stopgain SNV	ENSG00000101574:ENST00000319888:exon5:c.T831A:p.Y277X;ENSG00000101574:ENST00000574538:exon5:c.T831A:p.Y277X;	0.00213593513268249	0.016
18	2552763	T	A	18	2552764	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.A830T:p.Y277F;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.A830T:p.Y277F;ENSG00000101574:ENST00000574538:exon5:c.A830T:p.Y277F;	1.16590284425591E-4	0.032
18	2552763	T	C	18	2552764	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.A830G:p.Y277C;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.A830G:p.Y277C;ENSG00000101574:ENST00000574538:exon5:c.A830G:p.Y277C;	1.53017722261339E-5	0.006
18	2552763	T	G	18	2552764	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon5:c.A830C:p.Y277S;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon5:c.A830C:p.Y277S;ENSG00000101574:ENST00000574538:exon5:c.A830C:p.Y277S;	7.54827256680708E-5	0.036
18	2552764	C	A	18	2552765	y	y	splicing	METTL4(NM_022840:exon6:c.830-1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.830-1G>T;ENST00000576251:exon3:c.25-1G>T;ENST00000574538:exon6:c.830-1G>T)	.	.	0.999991289042512	0.776
18	2552764	C	G	18	2552765	y	y	splicing	METTL4(NM_022840:exon6:c.830-1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.830-1G>C;ENST00000576251:exon3:c.25-1G>C;ENST00000574538:exon6:c.830-1G>C)	.	.	0.999991289042512	0.778
18	2552764	C	T	18	2552765	y	y	splicing	METTL4(NM_022840:exon6:c.830-1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.830-1G>A;ENST00000576251:exon3:c.25-1G>A;ENST00000574538:exon6:c.830-1G>A)	.	.	0.999991289042512	0.776
18	2552765	T	A	18	2552766	y	y	splicing	METTL4(NM_022840:exon6:c.830-2A>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.830-2A>T;ENST00000576251:exon3:c.25-2A>T;ENST00000574538:exon6:c.830-2A>T)	.	.	0.999989378869813	0.754
18	2552765	T	C	18	2552766	y	y	splicing	METTL4(NM_022840:exon6:c.830-2A>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.830-2A>G;ENST00000576251:exon3:c.25-2A>G;ENST00000574538:exon6:c.830-2A>G)	.	.	0.999989378869813	0.756
18	2552765	T	G	18	2552766	y	y	splicing	METTL4(NM_022840:exon6:c.830-2A>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon6:c.830-2A>C;ENST00000576251:exon3:c.25-2A>C;ENST00000574538:exon6:c.830-2A>C)	.	.	0.999989378869813	0.756
18	2552766	G	A	18	2552767	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00226567748438817	0.046
18	2552766	G	C	18	2552767	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999913009805882	0.92
18	2552766	G	T	18	2552767	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.95106502046327	0.612
18	2552767	A	C	18	2552768	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.03892292181704E-5	0.0
18	2552767	A	G	18	2552768	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.03307290446193E-5	0.0
18	2552767	A	T	18	2552768	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.817992249686E-5	0.006
18	2552768	A	C	18	2552769	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.605726615760451	0.414
18	2552768	A	G	18	2552769	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.83940281871109E-4	0.014
18	2552768	A	T	18	2552769	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.484364540715548	0.388
18	2552769	A	C	18	2552770	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.475898754909166	0.506
18	2552769	A	G	18	2552770	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.52273029367754E-4	0.006
18	2552769	A	T	18	2552770	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.480344228894387	0.52
18	2552770	A	C	18	2552771	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00439613058464366	0.298
18	2552770	A	G	18	2552771	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	9.22122000180796E-6	0.0
18	2552770	A	T	18	2552771	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0220281023669343	0.318
18	2552771	C	A	18	2552772	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.45239244854331E-4	0.024
18	2552771	C	G	18	2552772	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.93686736310615E-4	0.05
18	2552771	C	T	18	2552772	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.39521066097322E-4	0.048
18	2552772	A	C	18	2552773	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.395873923848029	0.534
18	2552772	A	G	18	2552773	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0018584925424131	0.042
18	2552772	A	T	18	2552773	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999802580417107	0.948
18	2552773	A	C	18	2552774	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.222482749468084	0.552
18	2552773	A	G	18	2552774	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.73864578762993E-4	0.034
18	2552773	A	T	18	2552774	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.443834304255595	0.56
18	2552774	A	C	18	2552775	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.192366100625794	0.386
18	2552774	A	G	18	2552775	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.60722541172449E-4	0.098
18	2552774	A	T	18	2552775	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.374062429159248	0.388
18	2552775	G	A	18	2552776	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.05059111188853E-5	0.0
18	2552775	G	C	18	2552776	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.482173732062E-4	0.012
18	2552775	G	T	18	2552776	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.70465123098588E-4	0.04
18	2554660	T	A	18	2554661	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.5009289351198E-4	0.008
18	2554660	T	C	18	2554661	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.06564563693746E-4	0.022
18	2554660	T	G	18	2554661	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.30819145506541E-4	0.006
18	2554661	T	A	18	2554662	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.268159903632926	0.356
18	2554661	T	C	18	2554662	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.130362672098147	0.438
18	2554661	T	G	18	2554662	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.158294282751254	0.444
18	2554662	A	C	18	2554663	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.989036921189531	0.85
18	2554662	A	G	18	2554663	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.976312998431088	0.842
18	2554662	A	T	18	2554663	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.940235579794239	0.756
18	2554663	C	A	18	2554664	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999956941176677	0.972
18	2554663	C	G	18	2554664	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999681654311541	0.998
18	2554663	C	T	18	2554664	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999966161485742	1.0
18	2554664	T	A	18	2554665	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.986659881139895	0.628
18	2554664	T	C	18	2554665	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.989482725444634	0.804
18	2554664	T	G	18	2554665	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.688611909572755	0.406
18	2554665	T	A	18	2554666	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.9997992757759	0.974
18	2554665	T	C	18	2554666	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.932811664153988	0.416
18	2554665	T	G	18	2554666	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999822135888179	0.99
18	2554666	A	C	18	2554667	y	y	splicing	METTL4(NM_022840:exon5:c.829+2T>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.829+2T>G;ENST00000576251:exon2:c.24+2T>G;ENST00000574538:exon5:c.829+2T>G)	.	.	0.999989917668626	0.914
18	2554666	A	G	18	2554667	y	y	splicing	METTL4(NM_022840:exon5:c.829+2T>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.829+2T>C;ENST00000576251:exon2:c.24+2T>C;ENST00000574538:exon5:c.829+2T>C)	.	.	0.988809971481602	0.622
18	2554666	A	T	18	2554667	y	y	splicing	METTL4(NM_022840:exon5:c.829+2T>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.829+2T>A;ENST00000576251:exon2:c.24+2T>A;ENST00000574538:exon5:c.829+2T>A)	.	.	0.999989917668626	0.926
18	2554667	C	A	18	2554668	y	y	splicing	METTL4(NM_022840:exon5:c.829+1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.829+1G>T;ENST00000576251:exon2:c.24+1G>T;ENST00000574538:exon5:c.829+1G>T)	.	.	0.999981760802075	0.942
18	2554667	C	G	18	2554668	y	y	splicing	METTL4(NM_022840:exon5:c.829+1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.829+1G>C;ENST00000576251:exon2:c.24+1G>C;ENST00000574538:exon5:c.829+1G>C)	.	.	0.999981760802075	0.942
18	2554667	C	T	18	2554668	y	y	splicing	METTL4(NM_022840:exon5:c.829+1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.829+1G>A;ENST00000576251:exon2:c.24+1G>A;ENST00000574538:exon5:c.829+1G>A)	.	.	0.999981760802075	0.942
18	2554668	A	C	18	2554669	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.T829G:p.Y277D;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.T829G:p.Y277D;ENSG00000101574:ENST00000574538:exon4:c.T829G:p.Y277D;	2.01325061448195E-4	0.108
18	2554668	A	G	18	2554669	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.T829C:p.Y277H;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.T829C:p.Y277H;ENSG00000101574:ENST00000574538:exon4:c.T829C:p.Y277H;	0.0132654105572052	0.306
18	2554668	A	T	18	2554669	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.T829A:p.Y277N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.T829A:p.Y277N;ENSG00000101574:ENST00000574538:exon4:c.T829A:p.Y277N;	3.7537854391994E-4	0.022
18	2554669	G	A	18	2554670	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon4:c.C828T:p.N276N;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.C828T:p.N276N;ENSG00000101574:ENST00000574538:exon4:c.C828T:p.N276N;	4.18406459036611E-4	0.016
18	2554669	G	C	18	2554670	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.C828G:p.N276K;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.C828G:p.N276K;ENSG00000101574:ENST00000574538:exon4:c.C828G:p.N276K;	5.98104847236842E-4	0.03
18	2554669	G	T	18	2554670	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.C828A:p.N276K;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.C828A:p.N276K;ENSG00000101574:ENST00000574538:exon4:c.C828A:p.N276K;	2.42931433191296E-4	0.08
18	2554670	T	A	18	2554671	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.A827T:p.N276I;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.A827T:p.N276I;ENSG00000101574:ENST00000574538:exon4:c.A827T:p.N276I;	0.176763846010095	0.416
18	2554670	T	C	18	2554671	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.A827G:p.N276S;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.A827G:p.N276S;ENSG00000101574:ENST00000574538:exon4:c.A827G:p.N276S;	3.9938448602638E-4	0.008
18	2554670	T	G	18	2554671	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.A827C:p.N276T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.A827C:p.N276T;ENSG00000101574:ENST00000574538:exon4:c.A827C:p.N276T;	0.00112355021598267	0.046
18	2555036	A	C	18	2555037	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.T461G:p.I154S;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.T461G:p.I154S;ENSG00000101574:ENST00000577166:exon4:c.T20G:p.I7S;ENSG00000101574:ENST00000574538:exon4:c.T461G:p.I154S;	0.865450170017104	0.418
18	2555036	A	G	18	2555037	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.T461C:p.I154T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.T461C:p.I154T;ENSG00000101574:ENST00000577166:exon4:c.T20C:p.I7T;ENSG00000101574:ENST00000574538:exon4:c.T461C:p.I154T;	0.659603758120166	0.39
18	2555036	A	T	18	2555037	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.T461A:p.I154N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.T461A:p.I154N;ENSG00000101574:ENST00000577166:exon4:c.T20A:p.I7N;ENSG00000101574:ENST00000574538:exon4:c.T461A:p.I154N;	0.86377178771328	0.472
18	2555037	T	A	18	2555038	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.A460T:p.I154F;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.A460T:p.I154F;ENSG00000101574:ENST00000577166:exon4:c.A19T:p.I7F;ENSG00000101574:ENST00000574538:exon4:c.A460T:p.I154F;	0.886047461484894	0.566
18	2555037	T	C	18	2555038	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.A460G:p.I154V;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.A460G:p.I154V;ENSG00000101574:ENST00000577166:exon4:c.A19G:p.I7V;ENSG00000101574:ENST00000574538:exon4:c.A460G:p.I154V;	0.00140129503876103	0.01
18	2555037	T	G	18	2555038	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon4:c.A460C:p.I154L;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon4:c.A460C:p.I154L;ENSG00000101574:ENST00000577166:exon4:c.A19C:p.I7L;ENSG00000101574:ENST00000574538:exon4:c.A460C:p.I154L;	0.865094863793502	0.54
18	2555038	C	A	18	2555039	y	y	splicing	METTL4(NM_022840:exon5:c.460-1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.460-1G>T;ENST00000574538:exon5:c.460-1G>T;ENST00000577166:exon5:c.19-1G>T)	.	.	0.999976475802857	0.914
18	2555038	C	G	18	2555039	y	y	splicing	METTL4(NM_022840:exon5:c.460-1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.460-1G>C;ENST00000574538:exon5:c.460-1G>C;ENST00000577166:exon5:c.19-1G>C)	.	.	0.99997775019564	0.91
18	2555038	C	T	18	2555039	y	y	splicing	METTL4(NM_022840:exon5:c.460-1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.460-1G>A;ENST00000574538:exon5:c.460-1G>A;ENST00000577166:exon5:c.19-1G>A)	.	.	0.999976475802857	0.916
18	2555039	T	A	18	2555040	y	y	splicing	METTL4(NM_022840:exon5:c.460-2A>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.460-2A>T;ENST00000574538:exon5:c.460-2A>T;ENST00000577166:exon5:c.19-2A>T)	.	.	0.999931658812138	0.796
18	2555039	T	C	18	2555040	y	y	splicing	METTL4(NM_022840:exon5:c.460-2A>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.460-2A>G;ENST00000574538:exon5:c.460-2A>G;ENST00000577166:exon5:c.19-2A>G)	.	.	0.999931658812138	0.748
18	2555039	T	G	18	2555040	y	y	splicing	METTL4(NM_022840:exon5:c.460-2A>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon5:c.460-2A>C;ENST00000574538:exon5:c.460-2A>C;ENST00000577166:exon5:c.19-2A>C)	.	.	0.999931658812138	0.75
18	2555040	G	A	18	2555041	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00455260412521676	0.14
18	2555040	G	C	18	2555041	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999607304648481	0.884
18	2555040	G	T	18	2555041	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.992593138671161	0.824
18	2555041	T	A	18	2555042	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.31198978459227E-5	0.0
18	2555041	T	C	18	2555042	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.73154749459634E-4	0.014
18	2555041	T	G	18	2555042	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.73552116449849E-4	0.056
18	2555042	A	C	18	2555043	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.168982447771473	0.422
18	2555042	A	G	18	2555043	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0176848919485671	0.168
18	2555042	A	T	18	2555043	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.20099591731197	0.45
18	2555043	A	C	18	2555044	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.853318896083337	0.492
18	2555043	A	G	18	2555044	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.35290717482319E-4	0.058
18	2555043	A	T	18	2555044	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.791368464251408	0.48
18	2555044	G	A	18	2555045	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.60655141624398E-5	0.026
18	2555044	G	C	18	2555045	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.92378302155029E-4	0.128
18	2555044	G	T	18	2555045	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.46963442556975E-4	0.132
18	2555045	A	C	18	2555046	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00501652542887011	0.266
18	2555045	A	G	18	2555046	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.46008813247697E-5	0.036
18	2555045	A	T	18	2555046	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0103352582992299	0.382
18	2555046	G	A	18	2555047	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.38633478972544E-5	0.034
18	2555046	G	C	18	2555047	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.88256867279804E-4	0.082
18	2555046	G	T	18	2555047	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.48179239019438E-4	0.092
18	2555047	A	C	18	2555048	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.010198273907188	0.364
18	2555047	A	G	18	2555048	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	9.75634644476462E-4	0.094
18	2555047	A	T	18	2555048	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0408958955954152	0.36
18	2555048	A	C	18	2555049	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999887601067691	0.928
18	2555048	A	G	18	2555049	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.17653165748562	0.276
18	2555048	A	T	18	2555049	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.440101556945703	0.494
18	2555049	T	A	18	2555050	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.61499786401473E-5	0.032
18	2555049	T	C	18	2555050	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.997345556661964	0.948
18	2555049	T	G	18	2555050	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.85125381277776E-5	0.016
18	2563788	A	C	18	2563789	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.39252134329056E-4	0.026
18	2563788	A	G	18	2563789	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.39252134329056E-4	0.058
18	2563788	A	T	18	2563789	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.39252134329056E-4	0.012
18	2563789	C	A	18	2563790	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.01029157003238E-4	0.0
18	2563789	C	G	18	2563790	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.01029157003238E-4	0.0
18	2563789	C	T	18	2563790	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.55862927766097E-5	0.0
18	2563790	A	C	18	2563791	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00243562033105233	0.188
18	2563790	A	G	18	2563791	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0139976479909058	0.254
18	2563790	A	T	18	2563791	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00605872227664079	0.312
18	2563791	C	A	18	2563792	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.760559809201918	0.578
18	2563791	C	G	18	2563792	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.815220022144031	0.544
18	2563791	C	T	18	2563792	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.682556573213609	0.616
18	2563792	T	A	18	2563793	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0177871388094954	0.19
18	2563792	T	C	18	2563793	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.020988212422364	0.314
18	2563792	T	G	18	2563793	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0197295685120686	0.246
18	2563793	T	A	18	2563794	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.186845725281593	0.506
18	2563793	T	C	18	2563794	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0010334102075614	0.08
18	2563793	T	G	18	2563794	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.262013370240477	0.534
18	2563794	A	C	18	2563795	y	y	splicing	METTL4(NM_022840:exon4:c.459+2T>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.459+2T>G;ENST00000574538:exon4:c.459+2T>G;ENST00000577166:exon4:c.18+2T>G)	.	.	0.999988247793601	0.926
18	2563794	A	G	18	2563795	y	y	splicing	METTL4(NM_022840:exon4:c.459+2T>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.459+2T>C;ENST00000574538:exon4:c.459+2T>C;ENST00000577166:exon4:c.18+2T>C)	.	.	0.988163425542712	0.624
18	2563794	A	T	18	2563795	y	y	splicing	METTL4(NM_022840:exon4:c.459+2T>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.459+2T>A;ENST00000574538:exon4:c.459+2T>A;ENST00000577166:exon4:c.18+2T>A)	.	.	0.999988247793601	0.926
18	2563795	C	A	18	2563796	y	y	splicing	METTL4(NM_022840:exon4:c.459+1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.459+1G>T;ENST00000574538:exon4:c.459+1G>T;ENST00000577166:exon4:c.18+1G>T)	.	.	0.999989483462543	0.936
18	2563795	C	G	18	2563796	y	y	splicing	METTL4(NM_022840:exon4:c.459+1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.459+1G>C;ENST00000574538:exon4:c.459+1G>C;ENST00000577166:exon4:c.18+1G>C)	.	.	0.999988066403549	0.936
18	2563795	C	T	18	2563796	y	y	splicing	METTL4(NM_022840:exon4:c.459+1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.459+1G>A;ENST00000574538:exon4:c.459+1G>A;ENST00000577166:exon4:c.18+1G>A)	.	.	0.999989483462543	0.936
18	2563796	C	A	18	2563797	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.G459T:p.K153N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.G459T:p.K153N;ENSG00000101574:ENST00000577166:exon3:c.G18T:p.K6N;ENSG00000101574:ENST00000574538:exon3:c.G459T:p.K153N;	0.999675385104104	0.906
18	2563796	C	G	18	2563797	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.G459C:p.K153N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.G459C:p.K153N;ENSG00000101574:ENST00000577166:exon3:c.G18C:p.K6N;ENSG00000101574:ENST00000574538:exon3:c.G459C:p.K153N;	0.999330952185443	0.894
18	2563796	C	T	18	2563797	y	y	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon3:c.G459A:p.K153K;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.G459A:p.K153K;ENSG00000101574:ENST00000577166:exon3:c.G18A:p.K6K;ENSG00000101574:ENST00000574538:exon3:c.G459A:p.K153K;	0.803342540633311	0.448
18	2563797	T	A	18	2563798	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A458T:p.K153M;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A458T:p.K153M;ENSG00000101574:ENST00000577166:exon3:c.A17T:p.K6M;ENSG00000101574:ENST00000574538:exon3:c.A458T:p.K153M;	0.991240635347241	0.658
18	2563797	T	C	18	2563798	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A458G:p.K153R;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A458G:p.K153R;ENSG00000101574:ENST00000577166:exon3:c.A17G:p.K6R;ENSG00000101574:ENST00000574538:exon3:c.A458G:p.K153R;	0.991409475727727	0.766
18	2563797	T	G	18	2563798	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A458C:p.K153T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A458C:p.K153T;ENSG00000101574:ENST00000577166:exon3:c.A17C:p.K6T;ENSG00000101574:ENST00000574538:exon3:c.A458C:p.K153T;	0.991240635347241	0.718
18	2563798	T	A	18	2563799	y	y	exonic	METTL4	stopgain SNV	METTL4:NM_022840:exon3:c.A457T:p.K153X;	exonic	ENSG00000101574	stopgain SNV	ENSG00000101574:ENST00000319888:exon3:c.A457T:p.K153X;ENSG00000101574:ENST00000577166:exon3:c.A16T:p.K6X;ENSG00000101574:ENST00000574538:exon3:c.A457T:p.K153X;	0.196708781495881	0.364
18	2563798	T	C	18	2563799	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A457G:p.K153E;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A457G:p.K153E;ENSG00000101574:ENST00000577166:exon3:c.A16G:p.K6E;ENSG00000101574:ENST00000574538:exon3:c.A457G:p.K153E;	0.00382160236187532	0.08
18	2563798	T	G	18	2563799	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A457C:p.K153Q;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A457C:p.K153Q;ENSG00000101574:ENST00000577166:exon3:c.A16C:p.K6Q;ENSG00000101574:ENST00000574538:exon3:c.A457C:p.K153Q;	0.0457151608970019	0.19
18	2563857	T	A	18	2563858	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A398T:p.K133M;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A398T:p.K133M;ENSG00000101574:ENST00000574538:exon3:c.A398T:p.K133M;	0.778062039968563	0.702
18	2563857	T	C	18	2563858	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A398G:p.K133R;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A398G:p.K133R;ENSG00000101574:ENST00000574538:exon3:c.A398G:p.K133R;	0.893262947802378	0.664
18	2563857	T	G	18	2563858	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A398C:p.K133T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A398C:p.K133T;ENSG00000101574:ENST00000574538:exon3:c.A398C:p.K133T;	0.860899172630201	0.73
18	2563858	T	A	18	2563859	y	y	exonic	METTL4	stopgain SNV	METTL4:NM_022840:exon3:c.A397T:p.K133X;	exonic	ENSG00000101574	stopgain SNV	ENSG00000101574:ENST00000319888:exon3:c.A397T:p.K133X;ENSG00000101574:ENST00000574538:exon3:c.A397T:p.K133X;	0.519793129659299	0.506
18	2563858	T	C	18	2563859	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A397G:p.K133E;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A397G:p.K133E;ENSG00000101574:ENST00000574538:exon3:c.A397G:p.K133E;	0.644825645434685	0.61
18	2563858	T	G	18	2563859	y	y	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon3:c.A397C:p.K133Q;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon3:c.A397C:p.K133Q;ENSG00000101574:ENST00000574538:exon3:c.A397C:p.K133Q;	0.357097152457425	0.52
18	2563859	C	A	18	2563860	y	y	splicing	METTL4(NM_022840:exon4:c.397-1G>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.397-1G>T;ENST00000574538:exon4:c.397-1G>T)	.	.	0.999955429498236	0.924
18	2563859	C	G	18	2563860	y	y	splicing	METTL4(NM_022840:exon4:c.397-1G>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.397-1G>C;ENST00000574538:exon4:c.397-1G>C)	.	.	0.999955429498236	0.924
18	2563859	C	T	18	2563860	y	y	splicing	METTL4(NM_022840:exon4:c.397-1G>A)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.397-1G>A;ENST00000574538:exon4:c.397-1G>A)	.	.	0.999955429498236	0.922
18	2563860	T	A	18	2563861	y	y	splicing	METTL4(NM_022840:exon4:c.397-2A>T)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.397-2A>T;ENST00000574538:exon4:c.397-2A>T)	.	.	0.999975537619829	0.944
18	2563860	T	C	18	2563861	y	y	splicing	METTL4(NM_022840:exon4:c.397-2A>G)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.397-2A>G;ENST00000574538:exon4:c.397-2A>G)	.	.	0.99997576316811	0.95
18	2563860	T	G	18	2563861	y	y	splicing	METTL4(NM_022840:exon4:c.397-2A>C)	.	.	splicing	ENSG00000101574(ENST00000319888:exon4:c.397-2A>C;ENST00000574538:exon4:c.397-2A>C)	.	.	0.99997576316811	0.95
18	2563861	A	C	18	2563862	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.49321402610347	0.578
18	2563861	A	G	18	2563862	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.30737704776851E-4	0.012
18	2563861	A	T	18	2563862	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0923885056073041	0.348
18	2563862	A	C	18	2563863	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.37497072520077E-4	0.102
18	2563862	A	G	18	2563863	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.71000229407922E-4	0.048
18	2563862	A	T	18	2563863	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.02197711490242E-4	0.0
18	2563863	A	C	18	2563864	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.997342503149216	0.694
18	2563863	A	G	18	2563864	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00796905826138352	0.122
18	2563863	A	T	18	2563864	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.997342503149216	0.694
18	2563864	G	A	18	2563865	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.30804381967588E-5	0.002
18	2563864	G	C	18	2563865	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.021398288192069	0.28
18	2563864	G	T	18	2563865	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00159451738251132	0.19
18	2563865	G	A	18	2563866	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	6.66570077077302E-5	0.076
18	2563865	G	C	18	2563866	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00292333222209779	0.19
18	2563865	G	T	18	2563866	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00303661335022726	0.154
18	2563866	G	A	18	2563867	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	8.26215250676383E-5	0.006
18	2563866	G	C	18	2563867	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999843206106629	0.976
18	2563866	G	T	18	2563867	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.0093203094886E-4	0.144
18	2563867	T	A	18	2563868	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.00684534904205E-5	0.016
18	2563867	T	C	18	2563868	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.09389379062907E-5	0.004
18	2563867	T	G	18	2563868	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.63893490425848E-5	0.004
18	2563868	A	C	18	2563869	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.209713456679954	0.65
18	2563868	A	G	18	2563869	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00120962881979786	0.1
18	2563868	A	T	18	2563869	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.914581544141946	0.746
18	2563869	G	A	18	2563870	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.31969226614125E-5	0.0
18	2563869	G	C	18	2563870	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00148547289268448	0.072
18	2563869	G	T	18	2563870	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0016157673664478	0.054
18	2563870	A	C	18	2563871	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.99990125464801	0.982
18	2563870	A	G	18	2563871	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00217324579547349	0.098
18	2563870	A	T	18	2563871	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.526225865541095	0.628
18	2566812	C	A	18	2566813	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	3.39855928671715E-4	0.02
18	2566812	C	G	18	2566813	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	4.47733124387528E-4	0.014
18	2566812	C	T	18	2566813	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	4.73324063010861E-4	0.024
18	2566813	T	A	18	2566814	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	9.51912445201389E-5	0.002
18	2566813	T	C	18	2566814	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	1.6690006397733E-4	0.0
18	2566813	T	G	18	2566814	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	1.14648330017436E-4	0.0
18	2566814	T	A	18	2566815	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	5.23582881138117E-5	0.05
18	2566814	T	C	18	2566815	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	5.51825516895472E-5	0.004
18	2566814	T	G	18	2566815	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	2.09049940501613E-4	0.046
18	2566815	T	A	18	2566816	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	3.9292689370843E-4	0.026
18	2566815	T	C	18	2566816	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	1.34277867619382E-4	0.056
18	2566815	T	G	18	2566816	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	1.08953769045783E-4	0.006
18	2566816	C	A	18	2566817	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	4.57666192438877E-4	0.064
18	2566816	C	G	18	2566817	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	7.74404515173527E-4	0.174
18	2566816	C	T	18	2566817	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	4.27407044488562E-4	0.068
18	2566817	T	A	18	2566818	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	0.9999654721267	0.974
18	2566817	T	C	18	2566818	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	0.999641894470873	0.93
18	2566817	T	G	18	2566818	y	n	intronic	METTL4	.	.	exonic	ENSG00000101574	unknown	UNKNOWN	0.999971429567453	0.972
18	2566818	A	C	18	2566819	y	n	splicing	METTL4(NM_022840:exon3:c.396+2T>G)	.	.	exonic;splicing	ENSG00000101574;ENSG00000101574(ENST00000319888:exon3:c.396+2T>G;ENST00000574538:exon3:c.396+2T>G)	unknown	UNKNOWN	0.999990764389106	0.938
18	2566818	A	G	18	2566819	y	n	splicing	METTL4(NM_022840:exon3:c.396+2T>C)	.	.	exonic;splicing	ENSG00000101574;ENSG00000101574(ENST00000319888:exon3:c.396+2T>C;ENST00000574538:exon3:c.396+2T>C)	unknown	UNKNOWN	0.994157908252347	0.66
18	2566818	A	T	18	2566819	y	n	splicing	METTL4(NM_022840:exon3:c.396+2T>A)	.	.	exonic;splicing	ENSG00000101574;ENSG00000101574(ENST00000319888:exon3:c.396+2T>A;ENST00000574538:exon3:c.396+2T>A)	unknown	UNKNOWN	0.999990764389106	0.93
18	2566819	C	A	18	2566820	y	n	splicing	METTL4(NM_022840:exon3:c.396+1G>T)	.	.	exonic;splicing	ENSG00000101574;ENSG00000101574(ENST00000319888:exon3:c.396+1G>T;ENST00000574538:exon3:c.396+1G>T)	unknown	UNKNOWN	0.999988630721284	0.938
18	2566819	C	G	18	2566820	y	n	splicing	METTL4(NM_022840:exon3:c.396+1G>C)	.	.	exonic;splicing	ENSG00000101574;ENSG00000101574(ENST00000319888:exon3:c.396+1G>C;ENST00000574538:exon3:c.396+1G>C)	unknown	UNKNOWN	0.999988630721284	0.938
18	2566819	C	T	18	2566820	y	n	splicing	METTL4(NM_022840:exon3:c.396+1G>A)	.	.	exonic;splicing	ENSG00000101574;ENSG00000101574(ENST00000319888:exon3:c.396+1G>A;ENST00000574538:exon3:c.396+1G>A)	unknown	UNKNOWN	0.999988630721284	0.938
18	2566820	C	A	18	2566821	y	n	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon2:c.G396T:p.K132N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon2:c.G396T:p.K132N;ENSG00000101574:ENST00000574538:exon2:c.G396T:p.K132N;	0.999995302273097	1.0
18	2566820	C	G	18	2566821	y	n	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon2:c.G396C:p.K132N;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon2:c.G396C:p.K132N;ENSG00000101574:ENST00000574538:exon2:c.G396C:p.K132N;	0.999998296889211	1.0
18	2566820	C	T	18	2566821	y	n	exonic	METTL4	synonymous SNV	METTL4:NM_022840:exon2:c.G396A:p.K132K;	exonic	ENSG00000101574	synonymous SNV	ENSG00000101574:ENST00000319888:exon2:c.G396A:p.K132K;ENSG00000101574:ENST00000574538:exon2:c.G396A:p.K132K;	0.999993927782508	1.0
18	2566821	T	A	18	2566822	y	n	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon2:c.A395T:p.K132M;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon2:c.A395T:p.K132M;ENSG00000101574:ENST00000574538:exon2:c.A395T:p.K132M;	0.999981652586064	1.0
18	2566821	T	C	18	2566822	y	n	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon2:c.A395G:p.K132R;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon2:c.A395G:p.K132R;ENSG00000101574:ENST00000574538:exon2:c.A395G:p.K132R;	0.999981652586064	1.0
18	2566821	T	G	18	2566822	y	n	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon2:c.A395C:p.K132T;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon2:c.A395C:p.K132T;ENSG00000101574:ENST00000574538:exon2:c.A395C:p.K132T;	0.999958377928793	1.0
18	2566822	T	A	18	2566823	y	n	exonic	METTL4	stopgain SNV	METTL4:NM_022840:exon2:c.A394T:p.K132X;	exonic	ENSG00000101574	stopgain SNV	ENSG00000101574:ENST00000319888:exon2:c.A394T:p.K132X;ENSG00000101574:ENST00000574538:exon2:c.A394T:p.K132X;	0.999620384342129	0.906
18	2566822	T	C	18	2566823	y	n	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon2:c.A394G:p.K132E;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon2:c.A394G:p.K132E;ENSG00000101574:ENST00000574538:exon2:c.A394G:p.K132E;	0.916766845250966	0.528
18	2566822	T	G	18	2566823	y	n	exonic	METTL4	nonsynonymous SNV	METTL4:NM_022840:exon2:c.A394C:p.K132Q;	exonic	ENSG00000101574	nonsynonymous SNV	ENSG00000101574:ENST00000319888:exon2:c.A394C:p.K132Q;ENSG00000101574:ENST00000574538:exon2:c.A394C:p.K132Q;	0.782500907188738	0.628
18	2567503	G	A	18	2567504	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.59924306249928E-5	0.002
18	2567503	G	C	18	2567504	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	6.15019813653085E-5	0.008
18	2567503	G	T	18	2567504	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	6.15019813653085E-5	0.028
18	2567504	T	A	18	2567505	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	1.80994074047231E-5	0.0
18	2567504	T	C	18	2567505	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	1.67738868662274E-5	0.0
18	2567504	T	G	18	2567505	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	1.67738868662274E-5	0.0
18	2567505	T	A	18	2567506	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.7586829694842E-5	0.0
18	2567505	T	C	18	2567506	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.7586829694842E-5	0.0
18	2567505	T	G	18	2567506	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.7586829694842E-5	0.0
18	2567506	A	C	18	2567507	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.59797615271383E-5	0.0
18	2567506	A	G	18	2567507	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.59797615271383E-5	0.0
18	2567506	A	T	18	2567507	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	8.35697579118787E-5	0.0
18	2567507	A	C	18	2567508	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	2.455930068921E-5	0.002
18	2567507	A	G	18	2567508	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	2.455930068921E-5	0.002
18	2567507	A	T	18	2567508	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	2.455930068921E-5	0.002
18	2567508	A	C	18	2567509	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	3.1877777554816E-5	0.0
18	2567508	A	G	18	2567509	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	3.1877777554816E-5	0.0
18	2567508	A	T	18	2567509	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	3.1877777554816E-5	0.0
18	2567509	A	C	18	2567510	n	y	UTR5	METTL4	.	.	splicing	ENSG00000101574	.	.	9.49551173556722E-4	0.006
18	2567509	A	G	18	2567510	n	y	UTR5	METTL4	.	.	splicing	ENSG00000101574	.	.	9.49551173556722E-4	0.006
18	2567509	A	T	18	2567510	n	y	UTR5	METTL4	.	.	splicing	ENSG00000101574	.	.	0.00140830567855165	0.01
18	2567510	C	A	18	2567511	n	y	UTR5	METTL4	.	.	splicing	ENSG00000101574	.	.	9.72760553213487E-5	0.006
18	2567510	C	G	18	2567511	n	y	UTR5	METTL4	.	.	splicing	ENSG00000101574	.	.	9.72760553213487E-5	0.0
18	2567510	C	T	18	2567511	n	y	UTR5	METTL4	.	.	splicing	ENSG00000101574	.	.	7.27456659313109E-5	0.002
18	2567511	C	A	18	2567512	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.10877987865595E-5	0.006
18	2567511	C	G	18	2567512	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.10877987865595E-5	0.0
18	2567511	C	T	18	2567512	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	8.5401575932872E-5	0.006
18	2567512	T	A	18	2567513	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	6.24029875804207E-5	0.03
18	2567512	T	C	18	2567513	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	6.24029875804207E-5	0.03
18	2567512	T	G	18	2567513	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	6.24029875804207E-5	0.03
18	2567513	G	A	18	2567514	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	5.99944643161447E-5	0.006
18	2567513	G	C	18	2567514	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	2.88637294006008E-5	0.0
18	2567513	G	T	18	2567514	n	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	2.88637294006008E-5	0.006
18	2567652	G	A	18	2567653	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	1.04129417830287E-5	0.0
18	2567652	G	C	18	2567653	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	5.02593478727779E-5	0.008
18	2567652	G	T	18	2567653	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	2.33288188654565E-5	0.0
18	2567653	C	A	18	2567654	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.0364097252277659	0.324
18	2567653	C	G	18	2567654	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.00154997412943755	0.162
18	2567653	C	T	18	2567654	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	4.94418201792126E-4	0.086
18	2567654	C	A	18	2567655	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999867593286084	0.718
18	2567654	C	G	18	2567655	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999867593286084	0.718
18	2567654	C	T	18	2567655	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999867593286084	0.718
18	2567655	T	A	18	2567656	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999989378869813	0.754
18	2567655	T	C	18	2567656	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999989378869813	0.756
18	2567655	T	G	18	2567656	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999989378869813	0.756
18	2567656	G	A	18	2567657	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00158247299103257	0.14
18	2567656	G	C	18	2567657	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999766597481631	0.918
18	2567656	G	T	18	2567657	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.082349665447952	0.418
18	2567657	T	A	18	2567658	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.21878083676405E-4	0.034
18	2567657	T	C	18	2567658	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00137598845263129	0.028
18	2567657	T	G	18	2567658	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.13014873435891E-4	0.016
18	2567658	A	C	18	2567659	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.64314233336751E-4	0.092
18	2567658	A	G	18	2567659	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.35993077619721E-5	0.0
18	2567658	A	T	18	2567659	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.30022124033704E-4	0.056
18	2567659	A	C	18	2567660	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0065927202766354	0.09
18	2567659	A	G	18	2567660	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.47941756761223E-5	0.014
18	2567659	A	T	18	2567660	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00978886400852271	0.088
18	2567660	A	C	18	2567661	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00813335774595243	0.148
18	2567660	A	G	18	2567661	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.89601265573755E-4	0.022
18	2567660	A	T	18	2567661	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0158689697264443	0.204
18	2567661	A	C	18	2567662	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00278507634252182	0.1
18	2567661	A	G	18	2567662	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.2226545557874E-5	0.0
18	2567661	A	T	18	2567662	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00260444831825168	0.106
18	2567662	G	A	18	2567663	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.00999058092794E-5	0.0
18	2567662	G	C	18	2567663	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.92653572160107E-4	0.006
18	2567662	G	T	18	2567663	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.98588956728877E-4	0.054
18	2567663	C	A	18	2567664	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.90729864855637E-4	0.0
18	2567663	C	G	18	2567664	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.20098045831058E-4	0.002
18	2567663	C	T	18	2567664	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	4.76050160379555E-4	0.018
18	2567664	A	C	18	2567665	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.0326950734898269	0.354
18	2567664	A	G	18	2567665	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00308741455878098	0.088
18	2567664	A	T	18	2567665	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.999917743990003	0.94
18	2567665	A	C	18	2567666	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00728964573009053	0.268
18	2567665	A	G	18	2567666	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00124602404854896	0.068
18	2567665	A	T	18	2567666	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.00266111145264865	0.272
18	2571140	C	A	18	2571141	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.17107229407954E-4	0.024
18	2571140	C	G	18	2571141	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	5.15941453541388E-5	0.002
18	2571140	C	T	18	2571141	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	3.69405938779831E-4	0.002
18	2571141	A	C	18	2571142	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.48917968885942E-4	0.0
18	2571141	A	G	18	2571142	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.48917968885942E-4	0.0
18	2571141	A	T	18	2571142	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	7.29301522115209E-5	0.002
18	2571142	C	A	18	2571143	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.07310831419114E-4	0.008
18	2571142	C	G	18	2571143	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	2.23485764844723E-4	0.024
18	2571142	C	T	18	2571143	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.78200960769448E-4	0.0
18	2571143	C	A	18	2571144	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.997369032101117	0.744
18	2571143	C	G	18	2571144	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.891984834096787	0.574
18	2571143	C	T	18	2571144	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.995016264110689	0.742
18	2571144	T	A	18	2571145	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.916273849454089	0.552
18	2571144	T	C	18	2571145	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.95091959706414	0.624
18	2571144	T	G	18	2571145	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.146216639248228	0.338
18	2571145	C	A	18	2571146	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.873125553001199	0.466
18	2571145	C	G	18	2571146	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	0.846818648898306	0.496
18	2571145	C	T	18	2571146	y	y	intronic	METTL4	.	.	intronic	ENSG00000101574	.	.	1.25030660258601E-4	0.01
18	2571146	A	C	18	2571147	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.99992760270743	0.76
18	2571146	A	G	18	2571147	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999416854435478	0.714
18	2571146	A	T	18	2571147	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999893665506529	0.762
18	2571147	C	A	18	2571148	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999893935043067	0.764
18	2571147	C	G	18	2571148	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999903269673453	0.762
18	2571147	C	T	18	2571148	y	y	splicing	METTL4	.	.	splicing	ENSG00000101574	.	.	0.999893935043067	0.762
18	2571148	C	A	18	2571149	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.974755186404822	0.84
18	2571148	C	G	18	2571149	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.999888059080714	0.874
18	2571148	C	T	18	2571149	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.955369349283955	0.932
18	2571149	T	A	18	2571150	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.155742452979168	0.238
18	2571149	T	C	18	2571150	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.194718428563644	0.216
18	2571149	T	G	18	2571150	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.0686173286857663	0.35
18	2571150	C	A	18	2571151	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	0.0021984222001238	0.154
18	2571150	C	G	18	2571151	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	1.92238356435551E-4	0.006
18	2571150	C	T	18	2571151	y	y	UTR5	METTL4	.	.	UTR5	ENSG00000101574	.	.	2.59363118920858E-4	0.002
18	2571680	A	C	18	2571681	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	1.46309634441211E-4	0.008
18	2571680	A	G	18	2571681	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.00145314094070467	0.094
18	2571680	A	T	18	2571681	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.47585537613494	0.542
18	2571681	A	C	18	2571682	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.922059033591031	0.762
18	2571681	A	G	18	2571682	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.998350088144768	0.948
18	2571681	A	T	18	2571682	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.996227995769367	0.936
18	2571682	G	A	18	2571683	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.999968058676242	1.0
18	2571682	G	C	18	2571683	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.999978917936636	0.992
18	2571682	G	T	18	2571683	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.999312935282581	0.988
18	2571683	G	A	18	2571684	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999951763687174	0.95
18	2571683	G	C	18	2571684	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999947016792501	0.918
18	2571683	G	T	18	2571684	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999911255218052	0.916
18	2571684	T	A	18	2571685	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999966514958823	0.962
18	2571684	T	C	18	2571685	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999827552774224	0.9
18	2571684	T	G	18	2571685	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999966514958823	0.94
18	2571685	G	A	18	2571686	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.05089878083976E-4	0.11
18	2571685	G	C	18	2571686	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.213716592462863	0.422
18	2571685	G	T	18	2571686	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.732260160419049	0.412
18	2571686	A	C	18	2571687	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.224685405710912	0.366
18	2571686	A	G	18	2571687	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.970063218707593	0.716
18	2571686	A	T	18	2571687	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.961044630227711	0.766
18	2571687	C	A	18	2571688	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.17873195355657E-4	0.02
18	2571687	C	G	18	2571688	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.6804659257606E-4	0.056
18	2571687	C	T	18	2571688	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.04349982970396E-5	0.014
18	2571688	T	A	18	2571689	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0945115662528772	0.342
18	2571688	T	C	18	2571689	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00697163331181497	0.238
18	2571688	T	G	18	2571689	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.2884904302351E-4	0.228
18	2571689	G	A	18	2571690	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.15941453541388E-5	0.002
18	2571689	G	C	18	2571690	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.15941453541388E-5	0.002
18	2571689	G	T	18	2571690	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0016303541607762	0.008
18	2571690	A	C	18	2571691	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.71797432384624E-5	0.006
18	2571690	A	G	18	2571691	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.59711702867087E-4	0.016
18	2571690	A	T	18	2571691	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.60455599436866E-5	0.01
18	2572964	T	A	18	2572965	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.967698941970136	0.73
18	2572964	T	C	18	2572965	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0121199381710351	0.196
18	2572964	T	G	18	2572965	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.844428433117909	0.626
18	2572965	C	A	18	2572966	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999808916544708	0.96
18	2572965	C	G	18	2572966	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0543706036123192	0.174
18	2572965	C	T	18	2572966	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.39179256655471E-4	0.018
18	2572966	G	A	18	2572967	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.91369574106657E-5	0.014
18	2572966	G	C	18	2572967	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.05808194911997E-5	0.0
18	2572966	G	T	18	2572967	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.05808194911997E-5	0.0
18	2572967	T	A	18	2572968	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999919000947129	0.97
18	2572967	T	C	18	2572968	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.11773665242992E-4	0.036
18	2572967	T	G	18	2572968	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.966629556827159	0.548
18	2572968	G	A	18	2572969	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.98356126551172E-4	0.012
18	2572968	G	C	18	2572969	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.97048294864047E-5	0.0
18	2572968	G	T	18	2572969	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.97048294864047E-5	0.018
18	2572969	A	C	18	2572970	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.26872967149703E-4	0.09
18	2572969	A	G	18	2572970	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.26872967149703E-4	0.09
18	2572969	A	T	18	2572970	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.45933605625061E-4	0.088
18	2572970	A	C	18	2572971	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.65602961808381E-4	0.052
18	2572970	A	G	18	2572971	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998934269511858	0.952
18	2572970	A	T	18	2572971	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.65602961808381E-4	0.028
18	2572971	T	A	18	2572972	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999484965365304	0.95
18	2572971	T	C	18	2572972	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.88005798685184E-4	0.028
18	2572971	T	G	18	2572972	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999484965365304	0.95
18	2572972	G	A	18	2572973	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.50015220422842E-4	0.04
18	2572972	G	C	18	2572973	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.27458870250006E-4	0.032
18	2572972	G	T	18	2572973	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.1229538687417E-4	0.09
18	2572973	T	A	18	2572974	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.685417767957958	0.502
18	2572973	T	C	18	2572974	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.07902708129146E-4	0.008
18	2572973	T	G	18	2572974	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.977803039220149	0.596
18	2572974	A	C	18	2572975	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999919764818397	0.87
18	2572974	A	G	18	2572975	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999919764818397	0.87
18	2572974	A	T	18	2572975	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999948569839955	0.886
18	2572975	G	A	18	2572976	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999964949455739	0.904
18	2572975	G	C	18	2572976	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999934105785091	0.878
18	2572975	G	T	18	2572976	y	y	splicing	NDC80	.	.	splicing	ENSG00000080986	.	.	0.999964024092745	0.878
18	2572976	G	A	18	2572977	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.0335968113750268	0.28
18	2572976	G	C	18	2572977	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.893099337478705	0.586
18	2572976	G	T	18	2572977	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.996879938987226	0.738
18	2572977	T	A	18	2572978	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.0160956771712943	0.132
18	2572977	T	C	18	2572978	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.00876589123778139	0.082
18	2572977	T	G	18	2572978	y	y	UTR5	NDC80	.	.	UTR5	ENSG00000080986	.	.	0.00958939005355445	0.076
18	2573083	A	C	18	2573084	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon2:c.A99C:p.Q33H;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.A99C:p.Q33H;ENSG00000080986:ENST00000575515:exon2:c.A99C:p.Q33H;	4.08053102964287E-5	0.056
18	2573083	A	G	18	2573084	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon2:c.A99G:p.Q33Q;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.A99G:p.Q33Q;ENSG00000080986:ENST00000575515:exon2:c.A99G:p.Q33Q;	5.93337505608523E-5	0.004
18	2573083	A	T	18	2573084	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon2:c.A99T:p.Q33H;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.A99T:p.Q33H;ENSG00000080986:ENST00000575515:exon2:c.A99T:p.Q33H;	0.0789827145821052	0.338
18	2573084	A	C	18	2573085	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon2:c.A100C:p.T34P;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.A100C:p.T34P;ENSG00000080986:ENST00000575515:exon2:c.A100C:p.T34P;	0.869951999547037	0.752
18	2573084	A	G	18	2573085	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon2:c.A100G:p.T34A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.A100G:p.T34A;ENSG00000080986:ENST00000575515:exon2:c.A100G:p.T34A;	0.611927165630881	0.49
18	2573084	A	T	18	2573085	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon2:c.A100T:p.T34S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.A100T:p.T34S;ENSG00000080986:ENST00000575515:exon2:c.A100T:p.T34S;	0.382255596702946	0.506
18	2573085	C	A	18	2573086	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon2:c.C101A:p.T34N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.C101A:p.T34N;ENSG00000080986:ENST00000575515:exon2:c.C101A:p.T34N;	7.91836965572762E-4	0.05
18	2573085	C	G	18	2573086	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon2:c.C101G:p.T34S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.C101G:p.T34S;ENSG00000080986:ENST00000575515:exon2:c.C101G:p.T34S;	2.6622623789089E-4	0.256
18	2573085	C	T	18	2573086	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon2:c.C101T:p.T34I;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon2:c.C101T:p.T34I;ENSG00000080986:ENST00000575515:exon2:c.C101T:p.T34I;	0.00333319010386265	0.156
18	2573086	G	A	18	2573087	y	y	splicing	NDC80(NM_006101:exon2:c.101+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon2:c.101+1G>A;ENST00000575515:exon2:c.101+1G>A)	.	.	0.999916487880886	0.946
18	2573086	G	C	18	2573087	y	y	splicing	NDC80(NM_006101:exon2:c.101+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon2:c.101+1G>C;ENST00000575515:exon2:c.101+1G>C)	.	.	0.999945520654368	0.944
18	2573086	G	T	18	2573087	y	y	splicing	NDC80(NM_006101:exon2:c.101+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon2:c.101+1G>T;ENST00000575515:exon2:c.101+1G>T)	.	.	0.999945520654368	0.944
18	2573087	T	A	18	2573088	y	y	splicing	NDC80(NM_006101:exon2:c.101+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon2:c.101+2T>A;ENST00000575515:exon2:c.101+2T>A)	.	.	0.999984298712381	0.934
18	2573087	T	C	18	2573088	y	y	splicing	NDC80(NM_006101:exon2:c.101+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon2:c.101+2T>C;ENST00000575515:exon2:c.101+2T>C)	.	.	0.999863616218863	0.886
18	2573087	T	G	18	2573088	y	y	splicing	NDC80(NM_006101:exon2:c.101+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon2:c.101+2T>G;ENST00000575515:exon2:c.101+2T>G)	.	.	0.999983751017103	0.93
18	2573088	G	A	18	2573089	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.14155790924668E-5	0.012
18	2573088	G	C	18	2573089	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.416863681115282	0.476
18	2573088	G	T	18	2573089	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.959833628217977	0.472
18	2573089	A	C	18	2573090	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.631913672811162	0.464
18	2573089	A	G	18	2573090	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.983824916976596	0.842
18	2573089	A	T	18	2573090	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.979249273905798	0.826
18	2573090	G	A	18	2573091	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999949144094486	0.964
18	2573090	G	C	18	2573091	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999754656051449	0.89
18	2573090	G	T	18	2573091	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999962891918931	0.952
18	2573091	T	A	18	2573092	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.985905843789203	0.72
18	2573091	T	C	18	2573092	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.975231591715954	0.74
18	2573091	T	G	18	2573092	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.992646339832286	0.746
18	2573092	A	C	18	2573093	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.21133756078422E-5	0.0
18	2573092	A	G	18	2573093	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.68246148945225E-5	0.0
18	2573092	A	T	18	2573093	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.377056773575E-5	0.064
18	2573093	T	A	18	2573094	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.07681011213761E-4	0.0
18	2573093	T	C	18	2573094	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.70468354515916E-4	0.0
18	2573093	T	G	18	2573094	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.23244617478918E-4	0.0
18	2574976	T	A	18	2574977	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00151588299314928	0.188
18	2574976	T	C	18	2574977	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00350353885514396	0.176
18	2574976	T	G	18	2574977	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999939115582629	0.974
18	2574977	T	A	18	2574978	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00167055229799595	0.222
18	2574977	T	C	18	2574978	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0010910313527928	0.078
18	2574977	T	G	18	2574978	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00123155165272284	0.192
18	2574978	T	A	18	2574979	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.515095725503151	0.428
18	2574978	T	C	18	2574979	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0171564808290535	0.088
18	2574978	T	G	18	2574979	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.145969621913902	0.256
18	2574979	T	A	18	2574980	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0264850316262671	0.292
18	2574979	T	C	18	2574980	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00443988795445272	0.1
18	2574979	T	G	18	2574980	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0203355788649519	0.25
18	2574980	T	A	18	2574981	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0080021933242462	0.262
18	2574980	T	C	18	2574981	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00370743593689055	0.098
18	2574980	T	G	18	2574981	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0192686380343825	0.194
18	2574981	C	A	18	2574982	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00396884051804782	0.076
18	2574981	C	G	18	2574982	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.01229622444783E-4	0.072
18	2574981	C	T	18	2574982	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.51968553524252E-5	0.002
18	2574982	T	A	18	2574983	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0138601148818447	0.222
18	2574982	T	C	18	2574983	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.27230459836566E-4	0.048
18	2574982	T	G	18	2574983	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0284022506598851	0.256
18	2574983	T	A	18	2574984	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0292845419604225	0.368
18	2574983	T	C	18	2574984	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0054144160794379	0.17
18	2574983	T	G	18	2574984	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0368936416638275	0.398
18	2574984	A	C	18	2574985	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.03303521625841E-4	0.022
18	2574984	A	G	18	2574985	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.005611176890546	0.19
18	2574984	A	T	18	2574985	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.74031921393712E-4	0.018
18	2574985	A	C	18	2574986	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.41189286257596E-4	0.07
18	2574985	A	G	18	2574986	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.689235517609154	0.5
18	2574985	A	T	18	2574986	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00134257444616301	0.028
18	2574986	A	C	18	2574987	y	y	splicing	NDC80(NM_006101:exon3:c.102-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.102-2A>C;ENST00000575515:exon3:c.102-2A>C)	.	.	0.999973440375664	0.932
18	2574986	A	G	18	2574987	y	y	splicing	NDC80(NM_006101:exon3:c.102-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.102-2A>G;ENST00000575515:exon3:c.102-2A>G)	.	.	0.999973440375664	0.932
18	2574986	A	T	18	2574987	y	y	splicing	NDC80(NM_006101:exon3:c.102-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.102-2A>T;ENST00000575515:exon3:c.102-2A>T)	.	.	0.999973440375664	0.926
18	2574987	G	A	18	2574988	y	y	splicing	NDC80(NM_006101:exon3:c.102-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.102-1G>A;ENST00000575515:exon3:c.102-1G>A)	.	.	0.999951608398927	0.938
18	2574987	G	C	18	2574988	y	y	splicing	NDC80(NM_006101:exon3:c.102-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.102-1G>C;ENST00000575515:exon3:c.102-1G>C)	.	.	0.999951608398927	0.938
18	2574987	G	T	18	2574988	y	y	splicing	NDC80(NM_006101:exon3:c.102-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.102-1G>T;ENST00000575515:exon3:c.102-1G>T)	.	.	0.999951608398927	0.938
18	2574988	C	A	18	2574989	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon3:c.C102A:p.T34T;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.C102A:p.T34T;ENSG00000080986:ENST00000575515:exon3:c.C102A:p.T34T;	0.00238718830861965	0.044
18	2574988	C	G	18	2574989	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon3:c.C102G:p.T34T;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.C102G:p.T34T;ENSG00000080986:ENST00000575515:exon3:c.C102G:p.T34T;	0.00243652924394272	0.078
18	2574988	C	T	18	2574989	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon3:c.C102T:p.T34T;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.C102T:p.T34T;ENSG00000080986:ENST00000575515:exon3:c.C102T:p.T34T;	0.0554040926072967	0.27
18	2574989	A	C	18	2574990	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon3:c.A103C:p.K35Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.A103C:p.K35Q;ENSG00000080986:ENST00000575515:exon3:c.A103C:p.K35Q;	0.00482307983108737	0.052
18	2574989	A	G	18	2574990	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon3:c.A103G:p.K35E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.A103G:p.K35E;ENSG00000080986:ENST00000575515:exon3:c.A103G:p.K35E;	0.137240215077822	0.292
18	2574989	A	T	18	2574990	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon3:c.A103T:p.K35X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon3:c.A103T:p.K35X;ENSG00000080986:ENST00000575515:exon3:c.A103T:p.K35X;	0.801121931926938	0.8
18	2575063	A	C	18	2575064	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon3:c.A177C:p.K59N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.A177C:p.K59N;ENSG00000080986:ENST00000575515:exon3:c.A177C:p.K59N;	0.0018474876298996	0.04
18	2575063	A	G	18	2575064	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon3:c.A177G:p.K59K;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.A177G:p.K59K;ENSG00000080986:ENST00000575515:exon3:c.A177G:p.K59K;	0.00502594732361672	0.072
18	2575063	A	T	18	2575064	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon3:c.A177T:p.K59N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.A177T:p.K59N;ENSG00000080986:ENST00000575515:exon3:c.A177T:p.K59N;	0.51350616451626	0.39
18	2575064	A	C	18	2575065	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon3:c.A178C:p.R60R;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.A178C:p.R60R;ENSG00000080986:ENST00000575515:exon3:c.A178C:p.R60R;	0.190995018389739	0.51
18	2575064	A	G	18	2575065	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon3:c.A178G:p.R60G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.A178G:p.R60G;ENSG00000080986:ENST00000575515:exon3:c.A178G:p.R60G;	0.801975704507351	0.582
18	2575064	A	T	18	2575065	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon3:c.A178T:p.R60X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon3:c.A178T:p.R60X;ENSG00000080986:ENST00000575515:exon3:c.A178T:p.R60X;	0.980028431291707	0.676
18	2575065	G	A	18	2575066	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon3:c.G179A:p.R60K;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.G179A:p.R60K;ENSG00000080986:ENST00000575515:exon3:c.G179A:p.R60K;	0.999971804969183	0.974
18	2575065	G	C	18	2575066	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon3:c.G179C:p.R60T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.G179C:p.R60T;ENSG00000080986:ENST00000575515:exon3:c.G179C:p.R60T;	0.999992185752375	0.984
18	2575065	G	T	18	2575066	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon3:c.G179T:p.R60I;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon3:c.G179T:p.R60I;ENSG00000080986:ENST00000575515:exon3:c.G179T:p.R60I;	0.999974650703727	0.964
18	2575066	G	A	18	2575067	y	y	splicing	NDC80(NM_006101:exon3:c.179+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.179+1G>A;ENST00000575515:exon3:c.179+1G>A)	.	.	0.999976137096505	0.93
18	2575066	G	C	18	2575067	y	y	splicing	NDC80(NM_006101:exon3:c.179+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.179+1G>C;ENST00000575515:exon3:c.179+1G>C)	.	.	0.999938422912956	0.928
18	2575066	G	T	18	2575067	y	y	splicing	NDC80(NM_006101:exon3:c.179+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.179+1G>T;ENST00000575515:exon3:c.179+1G>T)	.	.	0.999976137096505	0.928
18	2575067	T	A	18	2575068	y	y	splicing	NDC80(NM_006101:exon3:c.179+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.179+2T>A;ENST00000575515:exon3:c.179+2T>A)	.	.	0.999966203349492	0.924
18	2575067	T	C	18	2575068	y	y	splicing	NDC80(NM_006101:exon3:c.179+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.179+2T>C;ENST00000575515:exon3:c.179+2T>C)	.	.	0.986512175407759	0.628
18	2575067	T	G	18	2575068	y	y	splicing	NDC80(NM_006101:exon3:c.179+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon3:c.179+2T>G;ENST00000575515:exon3:c.179+2T>G)	.	.	0.999966203349492	0.928
18	2575068	A	C	18	2575069	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999798775365052	0.878
18	2575068	A	G	18	2575069	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.980978818697842	0.672
18	2575068	A	T	18	2575069	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998948740058599	0.82
18	2575069	A	C	18	2575070	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.341383209225834	0.494
18	2575069	A	G	18	2575070	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.696208022691647	0.534
18	2575069	A	T	18	2575070	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.640897115403892	0.548
18	2575070	T	A	18	2575071	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00241972189842944	0.028
18	2575070	T	C	18	2575071	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00132693507573559	0.046
18	2575070	T	G	18	2575071	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.6540528304456E-4	0.054
18	2575071	T	A	18	2575072	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.13401806836484E-4	0.034
18	2575071	T	C	18	2575072	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00159780351714925	0.058
18	2575071	T	G	18	2575072	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.11764417323949E-4	0.038
18	2575072	A	C	18	2575073	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.11159464097565E-5	0.0
18	2575072	A	G	18	2575073	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.19886492843966E-5	0.0
18	2575072	A	T	18	2575073	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.31494776599194E-5	0.0
18	2575073	T	A	18	2575074	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.39529611572298E-5	0.0
18	2575073	T	C	18	2575074	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.44782069694124E-5	0.0
18	2575073	T	G	18	2575074	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.51915665924819E-5	0.0
18	2577223	T	A	18	2577224	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.07620641825897E-5	0.0
18	2577223	T	C	18	2577224	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.07620641825897E-5	0.0
18	2577223	T	G	18	2577224	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.07620641825897E-5	0.0
18	2577224	T	A	18	2577225	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.12288223045236E-5	0.002
18	2577224	T	C	18	2577225	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.12288223045236E-5	0.002
18	2577224	T	G	18	2577225	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.12288223045236E-5	0.002
18	2577225	T	A	18	2577226	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.60509126160735E-4	0.022
18	2577225	T	C	18	2577226	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.018
18	2577225	T	G	18	2577226	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.018
18	2577226	T	A	18	2577227	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.60509126160735E-4	0.022
18	2577226	T	C	18	2577227	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.018
18	2577226	T	G	18	2577227	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.018
18	2577227	T	A	18	2577228	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.45277156108894E-5	0.0
18	2577227	T	C	18	2577228	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.45277156108894E-5	0.0
18	2577227	T	G	18	2577228	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.45277156108894E-5	0.0
18	2577228	T	A	18	2577229	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.12288223045236E-5	0.022
18	2577228	T	C	18	2577229	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.2694790039333E-6	0.002
18	2577228	T	G	18	2577229	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.2694790039333E-6	0.002
18	2577229	T	A	18	2577230	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577229	T	C	18	2577230	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577229	T	G	18	2577230	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577230	T	A	18	2577231	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577230	T	C	18	2577231	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577230	T	G	18	2577231	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577231	T	A	18	2577232	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577231	T	C	18	2577232	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577231	T	G	18	2577232	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.7625743089426E-5	0.016
18	2577232	G	A	18	2577233	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.92559286361592E-5	0.012
18	2577232	G	C	18	2577233	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.92559286361592E-5	0.016
18	2577232	G	T	18	2577233	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.92559286361592E-5	0.018
18	2577233	A	C	18	2577234	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.180-2A>C)	.	.	1.89552819446206E-5	0.002
18	2577233	A	G	18	2577234	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.180-2A>G)	.	.	1.89552819446206E-5	0.002
18	2577233	A	T	18	2577234	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.180-2A>T)	.	.	2.04531790384734E-5	0.006
18	2577234	G	A	18	2577235	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.180-1G>A)	.	.	2.45277156108894E-5	0.0
18	2577234	G	C	18	2577235	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.180-1G>C)	.	.	2.45277156108894E-5	0.0
18	2577234	G	T	18	2577235	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.180-1G>T)	.	.	2.45277156108894E-5	0.0
18	2577235	A	C	18	2577236	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.A180C:p.R60S;	1.69633910178204E-4	0.018
18	2577235	A	G	18	2577236	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.A180G:p.R60R;	2.04531790384734E-5	0.002
18	2577235	A	T	18	2577236	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.A180T:p.R60S;	1.69633910178204E-4	0.006
18	2577236	T	A	18	2577237	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.T181A:p.W61R;	2.33833472525359E-5	0.0
18	2577236	T	C	18	2577237	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.T181C:p.W61R;	2.33833472525359E-5	0.0
18	2577236	T	G	18	2577237	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.T181G:p.W61G;	2.45277156108894E-5	0.0
18	2577354	C	A	18	2577355	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.C299A:p.T100K;	3.09395893123295E-5	0.002
18	2577354	C	G	18	2577355	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.C299G:p.T100R;	6.78684081159298E-5	0.002
18	2577354	C	T	18	2577355	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.C299T:p.T100I;	6.78684081159298E-5	0.002
18	2577355	A	C	18	2577356	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.A300C:p.T100T;	9.57123356397867E-5	0.01
18	2577355	A	G	18	2577356	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.A300G:p.T100T;	9.57123356397867E-5	0.01
18	2577355	A	T	18	2577356	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.A300T:p.T100T;	9.57123356397867E-5	0.008
18	2577356	G	A	18	2577357	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.G301A:p.E101K;	3.09395893123295E-5	0.002
18	2577356	G	C	18	2577357	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon4:c.G301C:p.E101Q;	6.78684081159298E-5	0.002
18	2577356	G	T	18	2577357	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000575515:exon4:c.G301T:p.E101X;	1.9096691494675E-4	0.002
18	2577357	G	A	18	2577358	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.301+1G>A)	.	.	2.1036365348547E-5	0.006
18	2577357	G	C	18	2577358	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.301+1G>C)	.	.	2.1036365348547E-5	0.006
18	2577357	G	T	18	2577358	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.301+1G>T)	.	.	2.1036365348547E-5	0.006
18	2577358	T	A	18	2577359	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.301+2T>A)	.	.	1.59660858139777E-5	0.0
18	2577358	T	C	18	2577359	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.301+2T>C)	.	.	1.59660858139777E-5	0.004
18	2577358	T	G	18	2577359	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000575515:exon4:c.301+2T>G)	.	.	1.59660858139777E-5	0.004
18	2577359	G	A	18	2577360	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.59660858139777E-5	0.0
18	2577359	G	C	18	2577360	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.59660858139777E-5	0.0
18	2577359	G	T	18	2577360	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.59660858139777E-5	0.0
18	2577360	C	A	18	2577361	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2577360	C	G	18	2577361	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2577360	C	T	18	2577361	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2577361	C	A	18	2577362	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.02172015075038E-5	0.034
18	2577361	C	G	18	2577362	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.02172015075038E-5	0.018
18	2577361	C	T	18	2577362	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.75663348373525E-5	0.01
18	2577362	T	A	18	2577363	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.57123356397867E-5	0.018
18	2577362	T	C	18	2577363	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.57123356397867E-5	0.018
18	2577362	T	G	18	2577363	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.57123356397867E-5	0.018
18	2577363	G	A	18	2577364	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.75663348373525E-5	0.012
18	2577363	G	C	18	2577364	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.02172015075038E-5	0.018
18	2577363	G	T	18	2577364	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.02172015075038E-5	0.01
18	2577364	C	A	18	2577365	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.75663348373525E-5	0.01
18	2577364	C	G	18	2577365	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.02172015075038E-5	0.03
18	2577364	C	T	18	2577365	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.75663348373525E-5	0.01
18	2577733	A	C	18	2577734	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.32581247637688E-5	0.018
18	2577733	A	G	18	2577734	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.996817155654959	0.974
18	2577733	A	T	18	2577734	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.63886699569976E-5	0.032
18	2577734	T	A	18	2577735	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.300254250945017	0.466
18	2577734	T	C	18	2577735	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00141512583277854	0.248
18	2577734	T	G	18	2577735	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99929084306578	0.94
18	2577735	A	C	18	2577736	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.49184455899201E-5	0.004
18	2577735	A	G	18	2577736	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.39787737288512E-5	0.0
18	2577735	A	T	18	2577736	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.06481237244302E-5	0.002
18	2577736	T	A	18	2577737	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00232612299597129	0.298
18	2577736	T	C	18	2577737	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.74601811567027E-4	0.036
18	2577736	T	G	18	2577737	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998770197811667	0.964
18	2577737	A	C	18	2577738	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.8393248019068E-5	0.008
18	2577737	A	G	18	2577738	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.28553144874401E-5	0.058
18	2577737	A	T	18	2577738	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.35020097372625E-5	0.0
18	2577738	T	A	18	2577739	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0714177011195904	0.378
18	2577738	T	C	18	2577739	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.0333481875457E-4	0.034
18	2577738	T	G	18	2577739	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998899033479481	0.986
18	2577739	T	A	18	2577740	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.77815127291179	0.64
18	2577739	T	C	18	2577740	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.80297268263309E-4	0.026
18	2577739	T	G	18	2577740	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.787043199693658	0.656
18	2577740	T	A	18	2577741	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.700927718326779	0.606
18	2577740	T	C	18	2577741	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00831971026628013	0.202
18	2577740	T	G	18	2577741	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.913639878831106	0.628
18	2577741	C	A	18	2577742	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.87764740230102E-5	0.062
18	2577741	C	G	18	2577742	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.50390928789088E-5	0.034
18	2577741	C	T	18	2577742	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.87764740230102E-5	0.04
18	2577742	C	A	18	2577743	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.885636963757953	0.742
18	2577742	C	G	18	2577743	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.947963878178994	0.704
18	2577742	C	T	18	2577743	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.34593733637572E-4	0.292
18	2577743	A	C	18	2577744	y	y	splicing	NDC80(NM_006101:exon4:c.180-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.180-2A>C;ENST00000575515:exon5:c.302-2A>C)	.	.	0.999896042004951	0.78
18	2577743	A	G	18	2577744	y	y	splicing	NDC80(NM_006101:exon4:c.180-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.180-2A>G;ENST00000575515:exon5:c.302-2A>G)	.	.	0.999896042004951	0.776
18	2577743	A	T	18	2577744	y	y	splicing	NDC80(NM_006101:exon4:c.180-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.180-2A>T;ENST00000575515:exon5:c.302-2A>T)	.	.	0.999804983639994	0.784
18	2577744	G	A	18	2577745	y	y	splicing	NDC80(NM_006101:exon4:c.180-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.180-1G>A;ENST00000575515:exon5:c.302-1G>A)	.	.	0.999773647817659	0.774
18	2577744	G	C	18	2577745	y	y	splicing	NDC80(NM_006101:exon4:c.180-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.180-1G>C;ENST00000575515:exon5:c.302-1G>C)	.	.	0.999813503051636	0.774
18	2577744	G	T	18	2577745	y	y	splicing	NDC80(NM_006101:exon4:c.180-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.180-1G>T;ENST00000575515:exon5:c.302-1G>T)	.	.	0.999813503051636	0.774
18	2577745	A	C	18	2577746	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.A180C:p.R60S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.A180C:p.R60S;ENSG00000080986:ENST00000575515:exon5:c.A302C:p.E101A;	0.0113293559036219	0.118
18	2577745	A	G	18	2577746	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon4:c.A180G:p.R60R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000575515:exon5:c.A302G:p.E101G;	7.79338710459945E-5	0.01
18	2577745	A	T	18	2577746	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.A180T:p.R60S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.A180T:p.R60S;ENSG00000080986:ENST00000575515:exon5:c.A302T:p.E101V;	0.0140212212743253	0.206
18	2577746	A	C	18	2577747	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.A181C:p.T61P;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.A181C:p.T61P;ENSG00000080986:ENST00000575515:exon5:c.A303C:p.E101D;	0.107021639842208	0.554
18	2577746	A	G	18	2577747	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.A181G:p.T61A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.A181G:p.T61A;	6.32992052085655E-4	0.056
18	2577746	A	T	18	2577747	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.A181T:p.T61S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.A181T:p.T61S;ENSG00000080986:ENST00000575515:exon5:c.A303T:p.E101D;	0.00249562986297139	0.062
18	2577866	G	A	18	2577867	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.G301A:p.E101K;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.G301A:p.E101K;ENSG00000080986:ENST00000576274:exon1:c.G19A:p.E7K;	0.949688068736709	0.816
18	2577866	G	C	18	2577867	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.G301C:p.E101Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.G301C:p.E101Q;ENSG00000080986:ENST00000576274:exon1:c.G19C:p.E7Q;	0.930393484225735	0.784
18	2577866	G	T	18	2577867	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon4:c.G301T:p.E101X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon4:c.G301T:p.E101X;ENSG00000080986:ENST00000576274:exon1:c.G19T:p.E7X;	0.983842275876631	0.818
18	2577867	A	C	18	2577868	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.A302C:p.E101A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.A302C:p.E101A;ENSG00000080986:ENST00000576274:exon1:c.A20C:p.E7A;	0.999894924957782	1.0
18	2577867	A	G	18	2577868	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.A302G:p.E101G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.A302G:p.E101G;ENSG00000080986:ENST00000576274:exon1:c.A20G:p.E7G;	0.999918503775611	1.0
18	2577867	A	T	18	2577868	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.A302T:p.E101V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.A302T:p.E101V;ENSG00000080986:ENST00000576274:exon1:c.A20T:p.E7V;	0.999911401846994	1.0
18	2577868	G	A	18	2577869	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon4:c.G303A:p.E101E;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.G303A:p.E101E;ENSG00000080986:ENST00000576274:exon1:c.G21A:p.E7E;	0.999947742916835	1.0
18	2577868	G	C	18	2577869	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.G303C:p.E101D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.G303C:p.E101D;ENSG00000080986:ENST00000576274:exon1:c.G21C:p.E7D;	0.999990562173731	1.0
18	2577868	G	T	18	2577869	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon4:c.G303T:p.E101D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon4:c.G303T:p.E101D;ENSG00000080986:ENST00000576274:exon1:c.G21T:p.E7D;	0.999991042753884	1.0
18	2577869	G	A	18	2577870	y	y	splicing	NDC80(NM_006101:exon4:c.303+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.303+1G>A;ENST00000576274:exon1:c.21+1G>A)	.	.	0.999967335026411	0.944
18	2577869	G	C	18	2577870	y	y	splicing	NDC80(NM_006101:exon4:c.303+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.303+1G>C;ENST00000576274:exon1:c.21+1G>C)	.	.	0.999915710762489	0.934
18	2577869	G	T	18	2577870	y	y	splicing	NDC80(NM_006101:exon4:c.303+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.303+1G>T;ENST00000576274:exon1:c.21+1G>T)	.	.	0.999915710762489	0.942
18	2577870	T	A	18	2577871	y	y	splicing	NDC80(NM_006101:exon4:c.303+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.303+2T>A;ENST00000576274:exon1:c.21+2T>A)	.	.	0.999978156327223	0.956
18	2577870	T	C	18	2577871	y	y	splicing	NDC80(NM_006101:exon4:c.303+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.303+2T>C;ENST00000576274:exon1:c.21+2T>C)	.	.	0.976001245189567	0.606
18	2577870	T	G	18	2577871	y	y	splicing	NDC80(NM_006101:exon4:c.303+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon4:c.303+2T>G;ENST00000576274:exon1:c.21+2T>G)	.	.	0.999978156327223	0.954
18	2577871	A	C	18	2577872	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999703932288503	0.926
18	2577871	A	G	18	2577872	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.981090581354476	0.678
18	2577871	A	T	18	2577872	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999375806645548	0.926
18	2577872	C	A	18	2577873	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.30366945843983E-4	0.128
18	2577872	C	G	18	2577873	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.50468678391168E-4	0.13
18	2577872	C	T	18	2577873	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00147362045088347	0.064
18	2577873	T	A	18	2577874	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.74927184037097E-4	0.024
18	2577873	T	C	18	2577874	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.22967406891827E-5	0.01
18	2577873	T	G	18	2577874	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.55303162086748E-5	0.118
18	2577874	T	A	18	2577875	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0926557628329936	0.408
18	2577874	T	C	18	2577875	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0934712462998838	0.466
18	2577874	T	G	18	2577875	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00237154814806322	0.262
18	2577875	T	A	18	2577876	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.12486344558583E-5	0.0
18	2577875	T	C	18	2577876	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.38255818486907E-5	0.0
18	2577875	T	G	18	2577876	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.98503498641795E-5	0.002
18	2577876	A	C	18	2577877	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.38255818486907E-5	0.0
18	2577876	A	G	18	2577877	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.46851261412749E-5	0.002
18	2577876	A	T	18	2577877	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.38255818486907E-5	0.0
18	2577956	A	C	18	2577957	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.54224173989555E-5	0.03
18	2577956	A	G	18	2577957	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.997971253889808	0.96
18	2577956	A	T	18	2577957	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.00230514066394E-5	0.154
18	2577957	A	C	18	2577958	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.42031425540456E-5	0.014
18	2577957	A	G	18	2577958	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.995420295960759	0.874
18	2577957	A	T	18	2577958	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.47360868029509E-4	0.168
18	2577958	A	C	18	2577959	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.55267105464718E-5	0.028
18	2577958	A	G	18	2577959	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998501297223769	0.91
18	2577958	A	T	18	2577959	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.51943317401085E-5	0.054
18	2577959	T	A	18	2577960	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00119936200781472	0.276
18	2577959	T	C	18	2577960	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.28295199171045E-5	0.018
18	2577959	T	G	18	2577960	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.9843413875038	0.852
18	2577960	T	A	18	2577961	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.796633472833025	0.69
18	2577960	T	C	18	2577961	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.4345131222168E-5	0.058
18	2577960	T	G	18	2577961	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.950316075294679	0.696
18	2577961	A	C	18	2577962	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.02521398819424E-5	0.012
18	2577961	A	G	18	2577962	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.02813197810349E-5	0.032
18	2577961	A	T	18	2577962	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.2016462193832E-5	0.052
18	2577962	T	A	18	2577963	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.558966943918934	0.644
18	2577962	T	C	18	2577963	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.45149750243419E-5	0.038
18	2577962	T	G	18	2577963	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99572234933354	0.906
18	2577963	T	A	18	2577964	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.994741854060086	0.918
18	2577963	T	C	18	2577964	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0487438015055634	0.226
18	2577963	T	G	18	2577964	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.655258431624941	0.636
18	2577964	G	A	18	2577965	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.2763782883432E-5	0.094
18	2577964	G	C	18	2577965	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.26640790366095E-4	0.08
18	2577964	G	T	18	2577965	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.96500329872184E-4	0.076
18	2577965	T	A	18	2577966	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.781856199957288	0.514
18	2577965	T	C	18	2577966	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.58739415504182E-5	0.076
18	2577965	T	G	18	2577966	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.966849213922145	0.632
18	2577966	A	C	18	2577967	y	y	splicing	NDC80(NM_006101:exon5:c.304-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.304-2A>C;ENST00000576274:exon2:c.22-2A>C)	.	.	0.999774862736003	0.898
18	2577966	A	G	18	2577967	y	y	splicing	NDC80(NM_006101:exon5:c.304-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.304-2A>G;ENST00000576274:exon2:c.22-2A>G)	.	.	0.999758624979273	0.898
18	2577966	A	T	18	2577967	y	y	splicing	NDC80(NM_006101:exon5:c.304-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.304-2A>T;ENST00000576274:exon2:c.22-2A>T)	.	.	0.9998780249771	0.892
18	2577967	G	A	18	2577968	y	y	splicing	NDC80(NM_006101:exon5:c.304-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.304-1G>A;ENST00000576274:exon2:c.22-1G>A)	.	.	0.99997540754718	0.878
18	2577967	G	C	18	2577968	y	y	splicing	NDC80(NM_006101:exon5:c.304-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.304-1G>C;ENST00000576274:exon2:c.22-1G>C)	.	.	0.999965720495138	0.866
18	2577967	G	T	18	2577968	y	y	splicing	NDC80(NM_006101:exon5:c.304-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.304-1G>T;ENST00000576274:exon2:c.22-1G>T)	.	.	0.99997540754718	0.872
18	2577968	T	A	18	2577969	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.T304A:p.F102I;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T304A:p.F102I;ENSG00000080986:ENST00000576274:exon2:c.T22A:p.F8I;	0.794674168945875	0.77
18	2577968	T	C	18	2577969	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.T304C:p.F102L;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T304C:p.F102L;ENSG00000080986:ENST00000576274:exon2:c.T22C:p.F8L;	0.867853846263879	0.63
18	2577968	T	G	18	2577969	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.T304G:p.F102V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T304G:p.F102V;ENSG00000080986:ENST00000576274:exon2:c.T22G:p.F8V;	0.857069146251819	0.644
18	2577969	T	A	18	2577970	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.T305A:p.F102Y;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T305A:p.F102Y;ENSG00000080986:ENST00000576274:exon2:c.T23A:p.F8Y;	0.459113014216202	0.544
18	2577969	T	C	18	2577970	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.T305C:p.F102S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T305C:p.F102S;ENSG00000080986:ENST00000576274:exon2:c.T23C:p.F8S;	0.586779411002323	0.518
18	2577969	T	G	18	2577970	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.T305G:p.F102C;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T305G:p.F102C;ENSG00000080986:ENST00000576274:exon2:c.T23G:p.F8C;	0.543557706633036	0.478
18	2578138	T	A	18	2578139	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon5:c.T474A:p.L158L;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T474A:p.L158L;ENSG00000080986:ENST00000576274:exon2:c.T192A:p.L64L;	0.0362254152594723	0.236
18	2578138	T	C	18	2578139	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon5:c.T474C:p.L158L;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T474C:p.L158L;ENSG00000080986:ENST00000576274:exon2:c.T192C:p.L64L;	0.00592985553596988	0.096
18	2578138	T	G	18	2578139	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon5:c.T474G:p.L158L;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.T474G:p.L158L;ENSG00000080986:ENST00000576274:exon2:c.T192G:p.L64L;	0.0277385447500487	0.154
18	2578139	G	A	18	2578140	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.G475A:p.G159R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.G475A:p.G159R;ENSG00000080986:ENST00000576274:exon2:c.G193A:p.G65R;	0.969307402085628	0.612
18	2578139	G	C	18	2578140	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.G475C:p.G159R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.G475C:p.G159R;ENSG00000080986:ENST00000576274:exon2:c.G193C:p.G65R;	0.991032766503292	0.828
18	2578139	G	T	18	2578140	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.G475T:p.G159W;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.G475T:p.G159W;ENSG00000080986:ENST00000576274:exon2:c.G193T:p.G65W;	0.992360736548726	0.76
18	2578140	G	A	18	2578141	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.G476A:p.G159E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.G476A:p.G159E;ENSG00000080986:ENST00000576274:exon2:c.G194A:p.G65E;	0.999987658122574	1.0
18	2578140	G	C	18	2578141	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.G476C:p.G159A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.G476C:p.G159A;ENSG00000080986:ENST00000576274:exon2:c.G194C:p.G65A;	0.999992087329036	0.976
18	2578140	G	T	18	2578141	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon5:c.G476T:p.G159V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon5:c.G476T:p.G159V;ENSG00000080986:ENST00000576274:exon2:c.G194T:p.G65V;	0.999967810178978	0.958
18	2578141	G	A	18	2578142	y	y	splicing	NDC80(NM_006101:exon5:c.476+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.476+1G>A;ENST00000576274:exon2:c.194+1G>A)	.	.	0.99993314117114	0.94
18	2578141	G	C	18	2578142	y	y	splicing	NDC80(NM_006101:exon5:c.476+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.476+1G>C;ENST00000576274:exon2:c.194+1G>C)	.	.	0.99993314117114	0.944
18	2578141	G	T	18	2578142	y	y	splicing	NDC80(NM_006101:exon5:c.476+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.476+1G>T;ENST00000576274:exon2:c.194+1G>T)	.	.	0.99993314117114	0.944
18	2578142	T	A	18	2578143	y	y	splicing	NDC80(NM_006101:exon5:c.476+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.476+2T>A;ENST00000576274:exon2:c.194+2T>A)	.	.	0.999951957019574	0.892
18	2578142	T	C	18	2578143	y	y	splicing	NDC80(NM_006101:exon5:c.476+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.476+2T>C;ENST00000576274:exon2:c.194+2T>C)	.	.	0.967788928859094	0.584
18	2578142	T	G	18	2578143	y	y	splicing	NDC80(NM_006101:exon5:c.476+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon5:c.476+2T>G;ENST00000576274:exon2:c.194+2T>G)	.	.	0.999971317418422	0.888
18	2578143	A	C	18	2578144	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998978866866756	0.812
18	2578143	A	G	18	2578144	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.865210207380683	0.612
18	2578143	A	T	18	2578144	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998898420065833	0.844
18	2578144	T	A	18	2578145	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.80360906220395E-4	0.21
18	2578144	T	C	18	2578145	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00250451604791987	0.034
18	2578144	T	G	18	2578145	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.55010417960636E-4	0.044
18	2578145	G	A	18	2578146	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999986047283065	0.952
18	2578145	G	C	18	2578146	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999981496723502	0.94
18	2578145	G	T	18	2578146	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999889222915908	0.86
18	2578146	T	A	18	2578147	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0173593477769979	0.244
18	2578146	T	C	18	2578147	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00491163356522679	0.218
18	2578146	T	G	18	2578147	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.42030167450733E-4	0.176
18	2578147	A	C	18	2578148	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.33197276083759E-5	0.002
18	2578147	A	G	18	2578148	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.1343313196934E-5	0.004
18	2578147	A	T	18	2578148	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.10236452347943E-4	0.03
18	2578148	T	A	18	2578149	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.21144452390154E-4	0.016
18	2578148	T	C	18	2578149	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.8187651927127E-4	0.018
18	2578148	T	G	18	2578149	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.59795116267303E-4	0.016
18	2578914	G	A	18	2578915	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.27357342835935E-5	0.004
18	2578914	G	C	18	2578915	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.22493652236982E-6	0.02
18	2578914	G	T	18	2578915	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.48467814260101E-5	0.016
18	2578915	A	C	18	2578916	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.58519590631996E-5	0.0
18	2578915	A	G	18	2578916	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.43937694774117E-5	0.0
18	2578915	A	T	18	2578916	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.4979352461891E-5	0.116
18	2578916	T	A	18	2578917	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00780798357946763	0.214
18	2578916	T	C	18	2578917	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.83960312352305E-5	0.0
18	2578916	T	G	18	2578917	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999392108362465	0.946
18	2578917	T	A	18	2578918	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00244957344644729	0.16
18	2578917	T	C	18	2578918	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.2284866437835E-5	0.0
18	2578917	T	G	18	2578918	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00145763751313286	0.144
18	2578918	T	A	18	2578919	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.114929702384074	0.296
18	2578918	T	C	18	2578919	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.64570468195835E-4	0.008
18	2578918	T	G	18	2578919	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00361757845162497	0.242
18	2578919	C	A	18	2578920	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.88989039905748E-4	0.032
18	2578919	C	G	18	2578920	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.45298375966321E-4	0.022
18	2578919	C	T	18	2578920	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.59771919260607E-5	0.0
18	2578920	T	A	18	2578921	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0298578628850323	0.198
18	2578920	T	C	18	2578921	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.07701393080148E-5	0.006
18	2578920	T	G	18	2578921	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0180557159917453	0.218
18	2578921	C	A	18	2578922	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.40954384836718E-4	0.04
18	2578921	C	G	18	2578922	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.90792756792967E-4	0.044
18	2578921	C	T	18	2578922	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.461379647455E-5	0.0
18	2578922	A	C	18	2578923	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.79638093876667E-5	0.0
18	2578922	A	G	18	2578923	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.24812561631633E-5	0.0
18	2578922	A	T	18	2578923	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.01929318042709E-5	0.002
18	2578923	T	A	18	2578924	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00609911826952787	0.112
18	2578923	T	C	18	2578924	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.55986446545564E-5	0.022
18	2578923	T	G	18	2578924	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.995717641653513	0.682
18	2578924	A	C	18	2578925	y	y	splicing	NDC80(NM_006101:exon6:c.477-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.477-2A>C;ENST00000576274:exon3:c.195-2A>C)	.	.	0.999989378869813	0.758
18	2578924	A	G	18	2578925	y	y	splicing	NDC80(NM_006101:exon6:c.477-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.477-2A>G;ENST00000576274:exon3:c.195-2A>G)	.	.	0.999989378869813	0.758
18	2578924	A	T	18	2578925	y	y	splicing	NDC80(NM_006101:exon6:c.477-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.477-2A>T;ENST00000576274:exon3:c.195-2A>T)	.	.	0.999989378869813	0.76
18	2578925	G	A	18	2578926	y	y	splicing	NDC80(NM_006101:exon6:c.477-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.477-1G>A;ENST00000576274:exon3:c.195-1G>A)	.	.	0.999983125587065	0.882
18	2578925	G	C	18	2578926	y	y	splicing	NDC80(NM_006101:exon6:c.477-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.477-1G>C;ENST00000576274:exon3:c.195-1G>C)	.	.	0.999983125587065	0.874
18	2578925	G	T	18	2578926	y	y	splicing	NDC80(NM_006101:exon6:c.477-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.477-1G>T;ENST00000576274:exon3:c.195-1G>T)	.	.	0.999983125587065	0.88
18	2578926	G	A	18	2578927	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon6:c.G477A:p.G159G;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.G477A:p.G159G;ENSG00000080986:ENST00000576274:exon3:c.G195A:p.G65G;	0.00409552319158249	0.158
18	2578926	G	C	18	2578927	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon6:c.G477C:p.G159G;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.G477C:p.G159G;ENSG00000080986:ENST00000576274:exon3:c.G195C:p.G65G;	0.0414858558506288	0.382
18	2578926	G	T	18	2578927	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon6:c.G477T:p.G159G;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.G477T:p.G159G;ENSG00000080986:ENST00000576274:exon3:c.G195T:p.G65G;	0.558571035017884	0.594
18	2578927	T	A	18	2578928	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.T478A:p.Y160N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.T478A:p.Y160N;ENSG00000080986:ENST00000576274:exon3:c.T196A:p.Y66N;	0.18739881828263	0.44
18	2578927	T	C	18	2578928	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.T478C:p.Y160H;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.T478C:p.Y160H;ENSG00000080986:ENST00000576274:exon3:c.T196C:p.Y66H;	0.196453836667353	0.424
18	2578927	T	G	18	2578928	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.T478G:p.Y160D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.T478G:p.Y160D;ENSG00000080986:ENST00000576274:exon3:c.T196G:p.Y66D;	0.196453836667353	0.462
18	2579026	A	C	18	2579027	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.A577C:p.K193Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.A577C:p.K193Q;ENSG00000080986:ENST00000576274:exon3:c.A295C:p.K99Q;	0.643600488786903	0.498
18	2579026	A	G	18	2579027	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.A577G:p.K193E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.A577G:p.K193E;ENSG00000080986:ENST00000576274:exon3:c.A295G:p.K99E;	0.200769415606351	0.364
18	2579026	A	T	18	2579027	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon6:c.A577T:p.K193X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon6:c.A577T:p.K193X;ENSG00000080986:ENST00000576274:exon3:c.A295T:p.K99X;	0.993029268567064	0.79
18	2579027	A	C	18	2579028	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.A578C:p.K193T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.A578C:p.K193T;ENSG00000080986:ENST00000576274:exon3:c.A296C:p.K99T;	0.999896629363675	1.0
18	2579027	A	G	18	2579028	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.A578G:p.K193R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.A578G:p.K193R;ENSG00000080986:ENST00000576274:exon3:c.A296G:p.K99R;	0.999859920237999	0.992
18	2579027	A	T	18	2579028	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.A578T:p.K193M;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.A578T:p.K193M;ENSG00000080986:ENST00000576274:exon3:c.A296T:p.K99M;	0.999921647619563	0.994
18	2579028	G	A	18	2579029	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon6:c.G579A:p.K193K;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.G579A:p.K193K;ENSG00000080986:ENST00000576274:exon3:c.G297A:p.K99K;	0.999976618557121	1.0
18	2579028	G	C	18	2579029	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.G579C:p.K193N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.G579C:p.K193N;ENSG00000080986:ENST00000576274:exon3:c.G297C:p.K99N;	0.999996543081375	0.998
18	2579028	G	T	18	2579029	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon6:c.G579T:p.K193N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon6:c.G579T:p.K193N;ENSG00000080986:ENST00000576274:exon3:c.G297T:p.K99N;	0.999993456460832	0.998
18	2579029	G	A	18	2579030	y	y	splicing	NDC80(NM_006101:exon6:c.579+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.579+1G>A;ENST00000576274:exon3:c.297+1G>A)	.	.	0.999991282139911	0.944
18	2579029	G	C	18	2579030	y	y	splicing	NDC80(NM_006101:exon6:c.579+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.579+1G>C;ENST00000576274:exon3:c.297+1G>C)	.	.	0.999977503438354	0.944
18	2579029	G	T	18	2579030	y	y	splicing	NDC80(NM_006101:exon6:c.579+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.579+1G>T;ENST00000576274:exon3:c.297+1G>T)	.	.	0.999987848068745	0.944
18	2579030	T	A	18	2579031	y	y	splicing	NDC80(NM_006101:exon6:c.579+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.579+2T>A;ENST00000576274:exon3:c.297+2T>A)	.	.	0.999978952611685	0.936
18	2579030	T	C	18	2579031	y	y	splicing	NDC80(NM_006101:exon6:c.579+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.579+2T>C;ENST00000576274:exon3:c.297+2T>C)	.	.	0.984109461207006	0.646
18	2579030	T	G	18	2579031	y	y	splicing	NDC80(NM_006101:exon6:c.579+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon6:c.579+2T>G;ENST00000576274:exon3:c.297+2T>G)	.	.	0.99994568797423	0.936
18	2579031	A	C	18	2579032	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999324248806548	0.916
18	2579031	A	G	18	2579032	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99744063201315	0.78
18	2579031	A	T	18	2579032	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.9950382490742	0.93
18	2579032	T	A	18	2579033	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.55832649708316E-4	0.102
18	2579032	T	C	18	2579033	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00188774927575057	0.126
18	2579032	T	G	18	2579033	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00103335094705389	0.052
18	2579033	T	A	18	2579034	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.85060198418992E-4	0.01
18	2579033	T	C	18	2579034	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.79659184707681E-4	0.044
18	2579033	T	G	18	2579034	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.92190322736482E-4	0.142
18	2579034	T	A	18	2579035	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0014801732257414	0.19
18	2579034	T	C	18	2579035	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00210271072206762	0.278
18	2579034	T	G	18	2579035	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.24874354078737E-4	0.218
18	2579035	G	A	18	2579036	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.27505293117029E-5	0.0
18	2579035	G	C	18	2579036	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.84731015406618E-5	0.002
18	2579035	G	T	18	2579036	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.65723656436746E-5	0.0
18	2579036	A	C	18	2579037	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.60785927608863E-5	0.0
18	2579036	A	G	18	2579037	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.035306444831E-4	0.086
18	2579036	A	T	18	2579037	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.62849946687715E-5	0.0
18	2582089	G	A	18	2582090	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.35379928190213E-5	0.0
18	2582089	G	C	18	2582090	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.35379928190213E-5	0.0
18	2582089	G	T	18	2582090	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.35379928190213E-5	0.0
18	2582090	T	A	18	2582091	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.018
18	2582090	T	C	18	2582091	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.016
18	2582090	T	G	18	2582091	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.016
18	2582091	T	A	18	2582092	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.02
18	2582091	T	C	18	2582092	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.016
18	2582091	T	G	18	2582092	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.016
18	2582092	T	A	18	2582093	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582092	T	C	18	2582093	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582092	T	G	18	2582093	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582093	T	A	18	2582094	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.012
18	2582093	T	C	18	2582094	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.02
18	2582093	T	G	18	2582094	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.02
18	2582094	G	A	18	2582095	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582094	G	C	18	2582095	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582094	G	T	18	2582095	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582095	A	C	18	2582096	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.02
18	2582095	A	G	18	2582096	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19654958573966E-5	0.02
18	2582095	A	T	18	2582096	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.57123356397867E-5	0.012
18	2582096	A	C	18	2582097	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582096	A	G	18	2582097	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582096	A	T	18	2582097	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.99153316237132E-5	0.0
18	2582097	A	C	18	2582098	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.45277156108894E-5	0.0
18	2582097	A	G	18	2582098	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.45277156108894E-5	0.0
18	2582097	A	T	18	2582098	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.45277156108894E-5	0.0
18	2582098	C	A	18	2582099	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.62951115444098E-5	0.0
18	2582098	C	G	18	2582099	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.62951115444098E-5	0.0
18	2582098	C	T	18	2582099	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.62951115444098E-5	0.0
18	2582099	A	C	18	2582100	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000576274:exon4:c.298-2A>C)	.	.	1.99153316237132E-5	0.0
18	2582099	A	G	18	2582100	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000576274:exon4:c.298-2A>G)	.	.	1.99153316237132E-5	0.0
18	2582099	A	T	18	2582100	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000576274:exon4:c.298-2A>T)	.	.	1.99153316237132E-5	0.0
18	2582100	G	A	18	2582101	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000576274:exon4:c.298-1G>A)	.	.	2.30852315876377E-5	0.008
18	2582100	G	C	18	2582101	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000576274:exon4:c.298-1G>C)	.	.	2.30852315876377E-5	0.008
18	2582100	G	T	18	2582101	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000576274:exon4:c.298-1G>T)	.	.	2.30852315876377E-5	0.008
18	2582101	A	C	18	2582102	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000576274:exon4:c.A298C:p.S100R;	9.57123356397867E-5	0.01
18	2582101	A	G	18	2582102	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000576274:exon4:c.A298G:p.S100G;	9.57123356397867E-5	0.01
18	2582101	A	T	18	2582102	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000576274:exon4:c.A298T:p.S100C;	9.57123356397867E-5	0.01
18	2582102	G	A	18	2582103	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000576274:exon4:c.G299A:p.S100N;	2.30852315876377E-5	0.01
18	2582102	G	C	18	2582103	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000576274:exon4:c.G299C:p.S100T;	1.49453169148861E-5	0.02
18	2582102	G	T	18	2582103	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000576274:exon4:c.G299T:p.S100I;	1.49453169148861E-5	0.01
18	2585100	T	A	18	2585101	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999963195697446	0.954
18	2585100	T	C	18	2585101	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00236422489726398	0.172
18	2585100	T	G	18	2585101	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.927699046639668	0.746
18	2585101	G	A	18	2585102	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00224427323650495	0.056
18	2585101	G	C	18	2585102	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.20534622237735E-4	0.044
18	2585101	G	T	18	2585102	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.52132469892097E-4	0.124
18	2585102	T	A	18	2585103	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.896990424663922	0.568
18	2585102	T	C	18	2585103	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00321586541574787	0.158
18	2585102	T	G	18	2585103	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.842034924168854	0.684
18	2585103	A	C	18	2585104	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.9695575673121E-4	0.016
18	2585103	A	G	18	2585104	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.22137914291573E-4	0.004
18	2585103	A	T	18	2585104	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.3539192822713E-4	0.018
18	2585104	C	A	18	2585105	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00279577101256672	0.222
18	2585104	C	G	18	2585105	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999687762142376	0.952
18	2585104	C	T	18	2585105	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.12540098667565E-5	0.012
18	2585105	T	A	18	2585106	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00550648482454949	0.136
18	2585105	T	C	18	2585106	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.31357942361543E-4	0.038
18	2585105	T	G	18	2585106	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.023549020938925	0.27
18	2585106	A	C	18	2585107	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.08197124161253E-5	0.122
18	2585106	A	G	18	2585107	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.63668867370853E-5	0.028
18	2585106	A	T	18	2585107	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.43087589418486E-5	0.02
18	2585107	A	C	18	2585108	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.19331252669107E-4	0.044
18	2585107	A	G	18	2585108	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99899032521319	0.916
18	2585107	A	T	18	2585108	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.36078838172638E-4	0.098
18	2585108	T	A	18	2585109	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.00437393159568E-5	0.0
18	2585108	T	C	18	2585109	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.14578084513127E-4	0.058
18	2585108	T	G	18	2585109	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.997756989162826	0.982
18	2585109	T	A	18	2585110	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.377074415666658	0.454
18	2585109	T	C	18	2585110	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.24134160611704E-5	0.024
18	2585109	T	G	18	2585110	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.989570553560786	0.624
18	2585110	A	C	18	2585111	y	y	splicing	NDC80(NM_006101:exon7:c.580-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.580-2A>C)	.	.	0.999965678899366	0.926
18	2585110	A	G	18	2585111	y	y	splicing	NDC80(NM_006101:exon7:c.580-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.580-2A>G)	.	.	0.999965678899366	0.926
18	2585110	A	T	18	2585111	y	y	splicing	NDC80(NM_006101:exon7:c.580-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.580-2A>T)	.	.	0.999986699802167	0.928
18	2585111	G	A	18	2585112	y	y	splicing	NDC80(NM_006101:exon7:c.580-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.580-1G>A)	.	.	0.999971851307944	0.918
18	2585111	G	C	18	2585112	y	y	splicing	NDC80(NM_006101:exon7:c.580-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.580-1G>C)	.	.	0.999971851307944	0.928
18	2585111	G	T	18	2585112	y	y	splicing	NDC80(NM_006101:exon7:c.580-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.580-1G>T)	.	.	0.999971851307944	0.92
18	2585112	A	C	18	2585113	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.A580C:p.I194L;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.A580C:p.I194L;	0.0118138175848552	0.176
18	2585112	A	G	18	2585113	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.A580G:p.I194V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.A580G:p.I194V;	7.32634144075264E-4	0.026
18	2585112	A	T	18	2585113	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.A580T:p.I194L;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.A580T:p.I194L;	0.00104033385613644	0.1
18	2585113	T	A	18	2585114	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.T581A:p.I194K;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.T581A:p.I194K;	0.714869988238837	0.384
18	2585113	T	C	18	2585114	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.T581C:p.I194T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.T581C:p.I194T;	0.778660910086571	0.432
18	2585113	T	G	18	2585114	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.T581G:p.I194R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.T581G:p.I194R;	0.574157309366319	0.396
18	2585199	A	C	18	2585200	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.A667C:p.K223Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.A667C:p.K223Q;	0.00263238351597176	0.016
18	2585199	A	G	18	2585200	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.A667G:p.K223E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.A667G:p.K223E;	0.320293693364207	0.412
18	2585199	A	T	18	2585200	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon7:c.A667T:p.K223X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon7:c.A667T:p.K223X;	0.995165733241894	0.84
18	2585200	A	C	18	2585201	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.A668C:p.K223T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.A668C:p.K223T;	0.96924955670706	0.862
18	2585200	A	G	18	2585201	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.A668G:p.K223R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.A668G:p.K223R;	0.999441985975048	0.976
18	2585200	A	T	18	2585201	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.A668T:p.K223M;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.A668T:p.K223M;	0.999628918697271	0.982
18	2585201	G	A	18	2585202	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon7:c.G669A:p.K223K;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.G669A:p.K223K;	0.999982828758633	0.972
18	2585201	G	C	18	2585202	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.G669C:p.K223N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.G669C:p.K223N;	0.999982793072148	0.962
18	2585201	G	T	18	2585202	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon7:c.G669T:p.K223N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon7:c.G669T:p.K223N;	0.99997830476788	0.998
18	2585202	G	A	18	2585203	y	y	splicing	NDC80(NM_006101:exon7:c.669+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.669+1G>A)	.	.	0.999965143305126	0.866
18	2585202	G	C	18	2585203	y	y	splicing	NDC80(NM_006101:exon7:c.669+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.669+1G>C)	.	.	0.999958003653399	0.814
18	2585202	G	T	18	2585203	y	y	splicing	NDC80(NM_006101:exon7:c.669+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.669+1G>T)	.	.	0.999958003653399	0.86
18	2585203	T	A	18	2585204	y	y	splicing	NDC80(NM_006101:exon7:c.669+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.669+2T>A)	.	.	0.999962958601995	0.838
18	2585203	T	C	18	2585204	y	y	splicing	NDC80(NM_006101:exon7:c.669+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.669+2T>C)	.	.	0.888714660764904	0.536
18	2585203	T	G	18	2585204	y	y	splicing	NDC80(NM_006101:exon7:c.669+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon7:c.669+2T>G)	.	.	0.999962958601995	0.8
18	2585204	A	C	18	2585205	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999926884791348	0.93
18	2585204	A	G	18	2585205	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.989096319330317	0.742
18	2585204	A	T	18	2585205	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999949561653049	0.936
18	2585205	C	A	18	2585206	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.64451263495625E-5	0.096
18	2585205	C	G	18	2585206	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.05710023266563E-4	0.114
18	2585205	C	T	18	2585206	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.62686492330081E-4	0.076
18	2585206	C	A	18	2585207	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.77727349915352E-5	0.018
18	2585206	C	G	18	2585207	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.76932391644499E-5	0.092
18	2585206	C	T	18	2585207	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.45671456895539E-5	0.008
18	2585207	A	C	18	2585208	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.18154754535561E-4	0.034
18	2585207	A	G	18	2585208	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.85722239501213E-5	0.004
18	2585207	A	T	18	2585208	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.09870285491646E-4	0.038
18	2585208	T	A	18	2585209	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00133176359813412	0.014
18	2585208	T	C	18	2585209	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00238418271729728	0.02
18	2585208	T	G	18	2585209	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00196693334828932	0.03
18	2585209	G	A	18	2585210	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.61309225436175E-5	0.004
18	2585209	G	C	18	2585210	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.49837919730984E-5	0.002
18	2585209	G	T	18	2585210	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.73562671462272E-5	0.002
18	2587817	T	A	18	2587818	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.991323639471123	0.756
18	2587817	T	C	18	2587818	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00523008694917037	0.148
18	2587817	T	G	18	2587818	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.927409399992172	0.7
18	2587818	T	A	18	2587819	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.984015886083982	0.678
18	2587818	T	C	18	2587819	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00945710339285986	0.27
18	2587818	T	G	18	2587819	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.966490510575416	0.64
18	2587819	A	C	18	2587820	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.49015849157092E-4	0.036
18	2587819	A	G	18	2587820	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.33457392798733E-5	0.0
18	2587819	A	T	18	2587820	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.29025094193889E-4	0.044
18	2587820	A	C	18	2587821	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.98501777021816E-5	0.0
18	2587820	A	G	18	2587821	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.98107947104121	0.93
18	2587820	A	T	18	2587821	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.24276335397826E-5	0.018
18	2587821	C	A	18	2587822	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0077582771029256	0.272
18	2587821	C	G	18	2587822	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999847364227801	0.976
18	2587821	C	T	18	2587822	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.12464186511681E-4	0.008
18	2587822	C	A	18	2587823	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.713631837919674	0.404
18	2587822	C	G	18	2587823	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.713631837919674	0.448
18	2587822	C	T	18	2587823	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.14298282709817E-4	0.012
18	2587823	C	A	18	2587824	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.69640065723813	0.536
18	2587823	C	G	18	2587824	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.422839363890537	0.534
18	2587823	C	T	18	2587824	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.00327602931202E-4	0.068
18	2587824	C	A	18	2587825	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00286872568401669	0.148
18	2587824	C	G	18	2587825	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00175190929182153	0.13
18	2587824	C	T	18	2587825	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.43242834074014E-5	0.004
18	2587825	A	C	18	2587826	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.55598768299852E-5	0.044
18	2587825	A	G	18	2587826	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.08264044264333E-4	0.056
18	2587825	A	T	18	2587826	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.34745058749744E-4	0.044
18	2587826	T	A	18	2587827	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.136281743608999	0.456
18	2587826	T	C	18	2587827	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.09938726013497E-5	0.086
18	2587826	T	G	18	2587827	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.963314261350066	0.658
18	2587827	A	C	18	2587828	y	y	splicing	NDC80(NM_006101:exon8:c.670-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.670-2A>C)	.	.	0.999968585001639	0.86
18	2587827	A	G	18	2587828	y	y	splicing	NDC80(NM_006101:exon8:c.670-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.670-2A>G)	.	.	0.999968585001639	0.882
18	2587827	A	T	18	2587828	y	y	splicing	NDC80(NM_006101:exon8:c.670-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.670-2A>T)	.	.	0.99996764000787	0.918
18	2587828	G	A	18	2587829	y	y	splicing	NDC80(NM_006101:exon8:c.670-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.670-1G>A)	.	.	0.999949744469354	0.928
18	2587828	G	C	18	2587829	y	y	splicing	NDC80(NM_006101:exon8:c.670-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.670-1G>C)	.	.	0.999949744469354	0.946
18	2587828	G	T	18	2587829	y	y	splicing	NDC80(NM_006101:exon8:c.670-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.670-1G>T)	.	.	0.999949744469354	0.934
18	2587829	T	A	18	2587830	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.T670A:p.L224M;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.T670A:p.L224M;	3.34445323075045E-5	0.082
18	2587829	T	C	18	2587830	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon8:c.T670C:p.L224L;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.T670C:p.L224L;	1.35192368717983E-4	0.054
18	2587829	T	G	18	2587830	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.T670G:p.L224V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.T670G:p.L224V;	9.27650215223447E-4	0.216
18	2587830	T	A	18	2587831	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon8:c.T671A:p.L224X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon8:c.T671A:p.L224X;	0.805119228413893	0.556
18	2587830	T	C	18	2587831	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.T671C:p.L224S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.T671C:p.L224S;	0.311581102834373	0.352
18	2587830	T	G	18	2587831	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.T671G:p.L224W;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.T671G:p.L224W;	0.359028709920259	0.364
18	2587920	T	A	18	2587921	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.T761A:p.L254Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.T761A:p.L254Q;	0.537733275607933	0.598
18	2587920	T	C	18	2587921	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.T761C:p.L254P;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.T761C:p.L254P;	0.468584271361207	0.45
18	2587920	T	G	18	2587921	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.T761G:p.L254R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.T761G:p.L254R;	0.648851221159167	0.624
18	2587921	G	A	18	2587922	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon8:c.G762A:p.L254L;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.G762A:p.L254L;	1.92390256615181E-4	0.002
18	2587921	G	C	18	2587922	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon8:c.G762C:p.L254L;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.G762C:p.L254L;	4.59488844034105E-5	0.002
18	2587921	G	T	18	2587922	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon8:c.G762T:p.L254L;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.G762T:p.L254L;	2.0886107320423E-4	0.002
18	2587922	A	C	18	2587923	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.A763C:p.K255Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.A763C:p.K255Q;	0.0996192969210338	0.272
18	2587922	A	G	18	2587923	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon8:c.A763G:p.K255E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon8:c.A763G:p.K255E;	0.00388034958893572	0.086
18	2587922	A	T	18	2587923	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon8:c.A763T:p.K255X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon8:c.A763T:p.K255X;	0.817827955109912	0.768
18	2587923	G	A	18	2587924	y	y	splicing	NDC80(NM_006101:exon8:c.763+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.763+1G>A)	.	.	0.999938990645747	0.946
18	2587923	G	C	18	2587924	y	y	splicing	NDC80(NM_006101:exon8:c.763+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.763+1G>C)	.	.	0.999938990645747	0.93
18	2587923	G	T	18	2587924	y	y	splicing	NDC80(NM_006101:exon8:c.763+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.763+1G>T)	.	.	0.999938990645747	0.944
18	2587924	T	A	18	2587925	y	y	splicing	NDC80(NM_006101:exon8:c.763+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.763+2T>A)	.	.	0.999946188727699	0.92
18	2587924	T	C	18	2587925	y	y	splicing	NDC80(NM_006101:exon8:c.763+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.763+2T>C)	.	.	0.997899988208073	0.79
18	2587924	T	G	18	2587925	y	y	splicing	NDC80(NM_006101:exon8:c.763+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon8:c.763+2T>G)	.	.	0.999964896440643	0.934
18	2587925	A	C	18	2587926	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.996706033713749	0.738
18	2587925	A	G	18	2587926	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00155361079567525	0.076
18	2587925	A	T	18	2587926	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.996383897752611	0.712
18	2587926	A	C	18	2587927	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.957097981816114	0.524
18	2587926	A	G	18	2587927	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.977683653155816	0.78
18	2587926	A	T	18	2587927	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.975087836498013	0.588
18	2587927	G	A	18	2587928	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999978580780861	0.934
18	2587927	G	C	18	2587928	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999993848640733	0.996
18	2587927	G	T	18	2587928	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999987405765473	0.994
18	2587928	T	A	18	2587929	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.936981111391194	0.642
18	2587928	T	C	18	2587929	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.89673813995115	0.698
18	2587928	T	G	18	2587929	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.942296434706926	0.674
18	2587929	G	A	18	2587930	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.33222265720666E-5	0.0
18	2587929	G	C	18	2587930	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.11852140023062E-5	0.0
18	2587929	G	T	18	2587930	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.33222265720666E-5	0.0
18	2587930	T	A	18	2587931	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.90320920410863E-5	0.044
18	2587930	T	C	18	2587931	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.90028566392549E-5	0.036
18	2587930	T	G	18	2587931	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.25467202314132E-5	0.044
18	2589191	T	A	18	2589192	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0229324693489178	0.426
18	2589191	T	C	18	2589192	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.507797965796E-4	0.034
18	2589191	T	G	18	2589192	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999842941588691	0.982
18	2589192	T	A	18	2589193	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.721288950532151	0.526
18	2589192	T	C	18	2589193	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00451261920822084	0.19
18	2589192	T	G	18	2589193	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.478509036079912	0.496
18	2589193	T	A	18	2589194	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.642786142341278	0.528
18	2589193	T	C	18	2589194	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00359250308211858	0.126
18	2589193	T	G	18	2589194	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.145535495578205	0.556
18	2589194	T	A	18	2589195	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999954373437737	0.978
18	2589194	T	C	18	2589195	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00363180261307796	0.114
18	2589194	T	G	18	2589195	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.623006132603303	0.554
18	2589195	G	A	18	2589196	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.90271605060728E-4	0.098
18	2589195	G	C	18	2589196	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.22489305459283E-5	0.042
18	2589195	G	T	18	2589196	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.25636239864534E-5	0.026
18	2589196	T	A	18	2589197	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.942954059001755	0.606
18	2589196	T	C	18	2589197	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.29251458659634E-4	0.062
18	2589196	T	G	18	2589197	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.721144102451893	0.502
18	2589197	C	A	18	2589198	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0037008432732756	0.18
18	2589197	C	G	18	2589198	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00318333252745295	0.192
18	2589197	C	T	18	2589198	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.46589501183643E-5	0.01
18	2589198	T	A	18	2589199	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.252353469052541	0.38
18	2589198	T	C	18	2589199	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00448375999499881	0.168
18	2589198	T	G	18	2589199	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.657084306642768	0.4
18	2589199	C	A	18	2589200	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.40685740601062E-5	0.034
18	2589199	C	G	18	2589200	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.08187180555691E-4	0.088
18	2589199	C	T	18	2589200	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.23311299765541E-4	0.024
18	2589200	C	A	18	2589201	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.97086893379789	0.822
18	2589200	C	G	18	2589201	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99979811285546	0.902
18	2589200	C	T	18	2589201	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0327955944194368	0.306
18	2589201	A	C	18	2589202	y	y	splicing	NDC80(NM_006101:exon9:c.764-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.764-2A>C)	.	.	0.999961870286175	0.952
18	2589201	A	G	18	2589202	y	y	splicing	NDC80(NM_006101:exon9:c.764-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.764-2A>G)	.	.	0.999961870286175	0.952
18	2589201	A	T	18	2589202	y	y	splicing	NDC80(NM_006101:exon9:c.764-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.764-2A>T)	.	.	0.999961870286175	0.938
18	2589202	G	A	18	2589203	y	y	splicing	NDC80(NM_006101:exon9:c.764-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.764-1G>A)	.	.	0.999979422316293	0.942
18	2589202	G	C	18	2589203	y	y	splicing	NDC80(NM_006101:exon9:c.764-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.764-1G>C)	.	.	0.999963147049869	0.94
18	2589202	G	T	18	2589203	y	y	splicing	NDC80(NM_006101:exon9:c.764-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.764-1G>T)	.	.	0.999971347399224	0.94
18	2589203	A	C	18	2589204	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.A764C:p.K255T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.A764C:p.K255T;	0.0239119733555517	0.188
18	2589203	A	G	18	2589204	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.A764G:p.K255R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.A764G:p.K255R;	3.73244830983502E-5	0.012
18	2589203	A	T	18	2589204	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.A764T:p.K255M;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.A764T:p.K255M;	0.0285408078130451	0.124
18	2589204	G	A	18	2589205	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon9:c.G765A:p.K255K;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.G765A:p.K255K;	0.00725806157388862	0.124
18	2589204	G	C	18	2589205	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.G765C:p.K255N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.G765C:p.K255N;	0.962699341023721	0.808
18	2589204	G	T	18	2589205	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.G765T:p.K255N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.G765T:p.K255N;	0.976934123366765	0.77
18	2589307	C	A	18	2589308	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.C868A:p.P290T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.C868A:p.P290T;	0.0132933894600676	0.166
18	2589307	C	G	18	2589308	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.C868G:p.P290A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.C868G:p.P290A;	0.893210823231186	0.588
18	2589307	C	T	18	2589308	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.C868T:p.P290S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.C868T:p.P290S;	0.995510544464384	0.68
18	2589308	C	A	18	2589309	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.C869A:p.P290Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.C869A:p.P290Q;	0.273947027269499	0.414
18	2589308	C	G	18	2589309	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.C869G:p.P290R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.C869G:p.P290R;	0.15248458886857	0.382
18	2589308	C	T	18	2589309	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon9:c.C869T:p.P290L;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.C869T:p.P290L;	0.943455615733845	0.576
18	2589309	G	A	18	2589310	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon9:c.G870A:p.P290P;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.G870A:p.P290P;	0.999953783219813	0.946
18	2589309	G	C	18	2589310	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon9:c.G870C:p.P290P;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.G870C:p.P290P;	0.999994485550088	0.938
18	2589309	G	T	18	2589310	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon9:c.G870T:p.P290P;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon9:c.G870T:p.P290P;	0.999983873210688	0.946
18	2589310	G	A	18	2589311	y	y	splicing	NDC80(NM_006101:exon9:c.870+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.870+1G>A)	.	.	0.999942513266374	0.81
18	2589310	G	C	18	2589311	y	y	splicing	NDC80(NM_006101:exon9:c.870+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.870+1G>C)	.	.	0.999969357331099	0.798
18	2589310	G	T	18	2589311	y	y	splicing	NDC80(NM_006101:exon9:c.870+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.870+1G>T)	.	.	0.999942513266374	0.806
18	2589311	T	A	18	2589312	y	y	splicing	NDC80(NM_006101:exon9:c.870+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.870+2T>A)	.	.	0.999982151912279	0.886
18	2589311	T	C	18	2589312	y	y	splicing	NDC80(NM_006101:exon9:c.870+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.870+2T>C)	.	.	0.999732302304343	0.854
18	2589311	T	G	18	2589312	y	y	splicing	NDC80(NM_006101:exon9:c.870+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon9:c.870+2T>G)	.	.	0.999972155025474	0.852
18	2589312	T	A	18	2589313	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.89621116209678E-5	0.216
18	2589312	T	C	18	2589313	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.59061597740892E-5	0.044
18	2589312	T	G	18	2589313	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.19861170495657E-5	0.238
18	2589313	A	C	18	2589314	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.450877390957449	0.38
18	2589313	A	G	18	2589314	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.241693700048397	0.41
18	2589313	A	T	18	2589314	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.33017067415859	0.454
18	2589314	G	A	18	2589315	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99997448028654	0.906
18	2589314	G	C	18	2589315	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999959346297908	0.94
18	2589314	G	T	18	2589315	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999947391896507	0.892
18	2589315	T	A	18	2589316	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.976845790212775	0.664
18	2589315	T	C	18	2589316	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.947658240230819	0.644
18	2589315	T	G	18	2589316	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.982134028574923	0.65
18	2589316	A	C	18	2589317	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.17032146224583E-4	0.018
18	2589316	A	G	18	2589317	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.69249364543073E-4	0.014
18	2589316	A	T	18	2589317	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.66687655527722E-4	0.016
18	2589317	A	C	18	2589318	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.38082728415313E-5	0.004
18	2589317	A	G	18	2589318	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.71870842480049E-5	0.002
18	2589317	A	T	18	2589318	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.38082728415313E-5	0.002
18	2590005	T	A	18	2590006	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00397096115707197	0.088
18	2590005	T	C	18	2590006	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.54450406964415E-4	0.034
18	2590005	T	G	18	2590006	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00523824824018981	0.106
18	2590006	T	A	18	2590007	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00355692576076727	0.236
18	2590006	T	C	18	2590007	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.04165200623296E-4	0.048
18	2590006	T	G	18	2590007	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0133328443458624	0.202
18	2590007	T	A	18	2590008	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0160241957172547	0.258
18	2590007	T	C	18	2590008	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00131155424911182	0.112
18	2590007	T	G	18	2590008	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00951722171104339	0.254
18	2590008	C	A	18	2590009	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00129325360316501	0.06
18	2590008	C	G	18	2590009	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00316344792433486	0.088
18	2590008	C	T	18	2590009	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.18438852887309E-4	0.008
18	2590009	T	A	18	2590010	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00210669042079336	0.126
18	2590009	T	C	18	2590010	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.39612680473238E-5	0.014
18	2590009	T	G	18	2590010	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00126887559128984	0.152
18	2590010	C	A	18	2590011	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.05931513864268E-4	0.09
18	2590010	C	G	18	2590011	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.54243689966329E-4	0.056
18	2590010	C	T	18	2590011	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.42916758742021E-5	0.0
18	2590011	T	A	18	2590012	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00759253504239243	0.254
18	2590011	T	C	18	2590012	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.16791141248342E-5	0.134
18	2590011	T	G	18	2590012	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00939857662298298	0.248
18	2590012	T	A	18	2590013	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00250260683500364	0.264
18	2590012	T	C	18	2590013	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.8544741332713E-4	0.042
18	2590012	T	G	18	2590013	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0296631267400831	0.344
18	2590013	A	C	18	2590014	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.09097745296809E-5	0.098
18	2590013	A	G	18	2590014	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.10092838506237E-4	0.068
18	2590013	A	T	18	2590014	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.49311305130535E-5	0.004
18	2590014	A	C	18	2590015	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.74404678665323E-4	0.102
18	2590014	A	G	18	2590015	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.216735372968107	0.474
18	2590014	A	T	18	2590015	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.0224338505492E-4	0.048
18	2590015	A	C	18	2590016	y	y	splicing	NDC80(NM_006101:exon10:c.871-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.871-2A>C)	.	.	0.999966514958823	0.948
18	2590015	A	G	18	2590016	y	y	splicing	NDC80(NM_006101:exon10:c.871-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.871-2A>G)	.	.	0.999966514958823	0.948
18	2590015	A	T	18	2590016	y	y	splicing	NDC80(NM_006101:exon10:c.871-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.871-2A>T)	.	.	0.999966203349492	0.946
18	2590016	G	A	18	2590017	y	y	splicing	NDC80(NM_006101:exon10:c.871-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.871-1G>A)	.	.	0.999989072007339	0.934
18	2590016	G	C	18	2590017	y	y	splicing	NDC80(NM_006101:exon10:c.871-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.871-1G>C)	.	.	0.999980428708689	0.936
18	2590016	G	T	18	2590017	y	y	splicing	NDC80(NM_006101:exon10:c.871-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.871-1G>T)	.	.	0.999980428708689	0.936
18	2590017	A	C	18	2590018	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.A871C:p.N291H;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A871C:p.N291H;	0.72084999459471	0.436
18	2590017	A	G	18	2590018	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.A871G:p.N291D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A871G:p.N291D;	1.35466332527969E-4	0.016
18	2590017	A	T	18	2590018	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.A871T:p.N291Y;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A871T:p.N291Y;	0.316906919149571	0.44
18	2590018	A	C	18	2590019	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.A872C:p.N291T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A872C:p.N291T;	0.146603268580392	0.51
18	2590018	A	G	18	2590019	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.A872G:p.N291S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A872G:p.N291S;	0.00403279258954883	0.05
18	2590018	A	T	18	2590019	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.A872T:p.N291I;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A872T:p.N291I;	0.591209582032839	0.49
18	2590159	T	A	18	2590160	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.T1013A:p.V338E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.T1013A:p.V338E;	0.21858045124519	0.536
18	2590159	T	C	18	2590160	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.T1013C:p.V338A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.T1013C:p.V338A;	8.65779462203675E-4	0.002
18	2590159	T	G	18	2590160	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.T1013G:p.V338G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.T1013G:p.V338G;	0.269293056305682	0.544
18	2590160	A	C	18	2590161	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon10:c.A1014C:p.V338V;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A1014C:p.V338V;	0.0448372142379813	0.506
18	2590160	A	G	18	2590161	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon10:c.A1014G:p.V338V;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A1014G:p.V338V;	0.108521325849161	0.43
18	2590160	A	T	18	2590161	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon10:c.A1014T:p.V338V;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.A1014T:p.V338V;	0.0298847421772252	0.508
18	2590161	G	A	18	2590162	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.G1015A:p.E339K;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.G1015A:p.E339K;	0.999640191862419	0.976
18	2590161	G	C	18	2590162	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon10:c.G1015C:p.E339Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon10:c.G1015C:p.E339Q;	0.999979018394342	0.966
18	2590161	G	T	18	2590162	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon10:c.G1015T:p.E339X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon10:c.G1015T:p.E339X;	0.999967296893078	0.96
18	2590162	G	A	18	2590163	y	y	splicing	NDC80(NM_006101:exon10:c.1015+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.1015+1G>A)	.	.	0.999986675681007	0.934
18	2590162	G	C	18	2590163	y	y	splicing	NDC80(NM_006101:exon10:c.1015+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.1015+1G>C)	.	.	0.999986675681007	0.934
18	2590162	G	T	18	2590163	y	y	splicing	NDC80(NM_006101:exon10:c.1015+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.1015+1G>T)	.	.	0.999986675681007	0.934
18	2590163	T	A	18	2590164	y	y	splicing	NDC80(NM_006101:exon10:c.1015+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.1015+2T>A)	.	.	0.999989917668626	0.928
18	2590163	T	C	18	2590164	y	y	splicing	NDC80(NM_006101:exon10:c.1015+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.1015+2T>C)	.	.	0.986528855787127	0.614
18	2590163	T	G	18	2590164	y	y	splicing	NDC80(NM_006101:exon10:c.1015+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon10:c.1015+2T>G)	.	.	0.999989917668626	0.926
18	2590164	A	C	18	2590165	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.989288076076121	0.762
18	2590164	A	G	18	2590165	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0359048195605591	0.104
18	2590164	A	T	18	2590165	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.997102498869846	0.734
18	2590165	A	C	18	2590166	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.832662127049137	0.616
18	2590165	A	G	18	2590166	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.966515409618639	0.634
18	2590165	A	T	18	2590166	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.968342446865748	0.69
18	2590166	G	A	18	2590167	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.969630927997473	0.806
18	2590166	G	C	18	2590167	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.870639615778433	0.66
18	2590166	G	T	18	2590167	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.985673821840159	0.862
18	2590167	C	A	18	2590168	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.09248702958265E-4	0.002
18	2590167	C	G	18	2590168	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.47449712302819E-5	0.028
18	2590167	C	T	18	2590168	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.37989488339375E-5	0.0
18	2590168	A	C	18	2590169	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.72872318312541E-4	0.028
18	2590168	A	G	18	2590169	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.81226036273349E-4	0.016
18	2590168	A	T	18	2590169	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.18722856053626E-4	0.018
18	2590169	G	A	18	2590170	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.20590404879984E-5	0.004
18	2590169	G	C	18	2590170	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.72410482137535E-6	0.004
18	2590169	G	T	18	2590170	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.05714549836922E-5	0.004
18	2595403	T	A	18	2595404	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00735796404930153	0.146
18	2595403	T	C	18	2595404	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.32694321356843E-5	0.0
18	2595403	T	G	18	2595404	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0139679932642733	0.162
18	2595404	T	A	18	2595405	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.155362450721235	0.332
18	2595404	T	C	18	2595405	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.53905072181575E-4	0.022
18	2595404	T	G	18	2595405	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.238457739480358	0.416
18	2595405	T	A	18	2595406	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0192328096415168	0.136
18	2595405	T	C	18	2595406	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.67157810665395E-4	0.038
18	2595405	T	G	18	2595406	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.258566305982985	0.324
18	2595406	C	A	18	2595407	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0153081061292069	0.104
18	2595406	C	G	18	2595407	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00353475183075338	0.132
18	2595406	C	T	18	2595407	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.83050015894502E-5	0.004
18	2595407	C	A	18	2595408	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.51893534084599E-4	0.008
18	2595407	C	G	18	2595408	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.18133564649929E-4	0.014
18	2595407	C	T	18	2595408	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.41655469002275E-5	0.002
18	2595408	A	C	18	2595409	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.85397010053589E-5	0.016
18	2595408	A	G	18	2595409	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.25031824071853E-5	0.008
18	2595408	A	T	18	2595409	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.97435556935659E-5	0.0
18	2595409	A	C	18	2595410	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.67083920298643E-5	0.016
18	2595409	A	G	18	2595410	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.997154911416129	0.93
18	2595409	A	T	18	2595410	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.75482540753031E-5	0.002
18	2595410	C	A	18	2595411	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.1384741640248E-4	0.13
18	2595410	C	G	18	2595411	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.996994622075033	0.948
18	2595410	C	T	18	2595411	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.68216254999895E-5	0.024
18	2595411	A	C	18	2595412	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.67927444975539E-5	0.008
18	2595411	A	G	18	2595412	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.98035419155102E-5	0.014
18	2595411	A	T	18	2595412	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.62475465441704E-5	0.002
18	2595412	C	A	18	2595413	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.936005910566648	0.792
18	2595412	C	G	18	2595413	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999355142108147	0.884
18	2595412	C	T	18	2595413	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.41897511399433E-4	0.078
18	2595413	A	C	18	2595414	y	y	splicing	NDC80(NM_006101:exon11:c.1016-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1016-2A>C)	.	.	0.999980255680118	0.788
18	2595413	A	G	18	2595414	y	y	splicing	NDC80(NM_006101:exon11:c.1016-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1016-2A>G)	.	.	0.999980255680118	0.788
18	2595413	A	T	18	2595414	y	y	splicing	NDC80(NM_006101:exon11:c.1016-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1016-2A>T)	.	.	0.999962958601995	0.8
18	2595414	G	A	18	2595415	y	y	splicing	NDC80(NM_006101:exon11:c.1016-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1016-1G>A)	.	.	0.999962153403958	0.862
18	2595414	G	C	18	2595415	y	y	splicing	NDC80(NM_006101:exon11:c.1016-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1016-1G>C)	.	.	0.999954401362567	0.856
18	2595414	G	T	18	2595415	y	y	splicing	NDC80(NM_006101:exon11:c.1016-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1016-1G>T)	.	.	0.999962153403958	0.862
18	2595415	A	C	18	2595416	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.A1016C:p.E339A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.A1016C:p.E339A;	0.0200318858545604	0.172
18	2595415	A	G	18	2595416	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.A1016G:p.E339G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.A1016G:p.E339G;	4.19244147153252E-4	0.014
18	2595415	A	T	18	2595416	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.A1016T:p.E339V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.A1016T:p.E339V;	0.0173509565017355	0.174
18	2595416	A	C	18	2595417	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.A1017C:p.E339D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.A1017C:p.E339D;	1.02811073453834E-4	0.014
18	2595416	A	G	18	2595417	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon11:c.A1017G:p.E339E;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.A1017G:p.E339E;	5.31399762088816E-5	0.016
18	2595416	A	T	18	2595417	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.A1017T:p.E339D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.A1017T:p.E339D;	3.64557545631594E-5	0.004
18	2595618	G	A	18	2595619	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.G1219A:p.A407T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.G1219A:p.A407T;	8.54605104871852E-5	0.002
18	2595618	G	C	18	2595619	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.G1219C:p.A407P;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.G1219C:p.A407P;	2.58124240578656E-4	0.012
18	2595618	G	T	18	2595619	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.G1219T:p.A407S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.G1219T:p.A407S;	3.56564649501397E-4	0.01
18	2595619	C	A	18	2595620	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.C1220A:p.A407E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.C1220A:p.A407E;	2.61291707044353E-4	0.104
18	2595619	C	G	18	2595620	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.C1220G:p.A407G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.C1220G:p.A407G;	0.0112501859813521	0.102
18	2595619	C	T	18	2595620	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon11:c.C1220T:p.A407V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.C1220T:p.A407V;	0.0292234884570998	0.15
18	2595620	G	A	18	2595621	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon11:c.G1221A:p.A407A;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.G1221A:p.A407A;	0.999660379838027	0.894
18	2595620	G	C	18	2595621	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon11:c.G1221C:p.A407A;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.G1221C:p.A407A;	0.999497642393687	0.786
18	2595620	G	T	18	2595621	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon11:c.G1221T:p.A407A;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon11:c.G1221T:p.A407A;	0.999312609083595	0.922
18	2595621	G	A	18	2595622	y	y	splicing	NDC80(NM_006101:exon11:c.1221+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1221+1G>A)	.	.	0.999981760802075	0.938
18	2595621	G	C	18	2595622	y	y	splicing	NDC80(NM_006101:exon11:c.1221+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1221+1G>C)	.	.	0.999981760802075	0.938
18	2595621	G	T	18	2595622	y	y	splicing	NDC80(NM_006101:exon11:c.1221+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1221+1G>T)	.	.	0.999981760802075	0.938
18	2595622	T	A	18	2595623	y	y	splicing	NDC80(NM_006101:exon11:c.1221+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1221+2T>A)	.	.	0.999989917668626	0.926
18	2595622	T	C	18	2595623	y	y	splicing	NDC80(NM_006101:exon11:c.1221+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1221+2T>C)	.	.	0.988809971481602	0.638
18	2595622	T	G	18	2595623	y	y	splicing	NDC80(NM_006101:exon11:c.1221+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon11:c.1221+2T>G)	.	.	0.999989917668626	0.926
18	2595623	A	C	18	2595624	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998612176313026	0.908
18	2595623	A	G	18	2595624	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.949452774655838	0.778
18	2595623	A	T	18	2595624	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.993433873748774	0.888
18	2595624	T	A	18	2595625	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.20762966054432E-5	0.0
18	2595624	T	C	18	2595625	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.48372993524903E-5	0.0
18	2595624	T	G	18	2595625	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.69882730933261E-5	0.002
18	2595625	G	A	18	2595626	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999868830850349	0.96
18	2595625	G	C	18	2595626	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999918148555863	0.876
18	2595625	G	T	18	2595626	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999937185724491	0.918
18	2595626	T	A	18	2595627	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.596737703060164	0.616
18	2595626	T	C	18	2595627	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.952533321598179	0.65
18	2595626	T	G	18	2595627	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.435366480855768	0.59
18	2595627	C	A	18	2595628	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.22751085239585E-5	0.0
18	2595627	C	G	18	2595628	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.22751085239585E-5	0.0
18	2595627	C	T	18	2595628	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.58743716816577E-5	0.0
18	2595628	A	C	18	2595629	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.55591704267905E-5	0.0
18	2595628	A	G	18	2595629	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.10710114931588E-4	0.0
18	2595628	A	T	18	2595629	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.55591704267905E-5	0.0
18	2599006	C	A	18	2599007	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.48475824867308E-5	0.034
18	2599006	C	G	18	2599007	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.64442165696961E-5	0.008
18	2599006	C	T	18	2599007	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.25204947159058E-5	0.0
18	2599007	T	A	18	2599008	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999862868897786	0.95
18	2599007	T	C	18	2599008	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00177005810438705	0.12
18	2599007	T	G	18	2599008	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0201666280890911	0.394
18	2599008	G	A	18	2599009	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.4388909994699E-5	0.0
18	2599008	G	C	18	2599009	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.1001362306622E-6	0.004
18	2599008	G	T	18	2599009	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.55955572115086E-5	0.0
18	2599009	T	A	18	2599010	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.75035540411996E-4	0.266
18	2599009	T	C	18	2599010	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.72496218260169E-4	0.048
18	2599009	T	G	18	2599010	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.36882070563824E-4	0.226
18	2599010	T	A	18	2599011	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.87110571566698E-4	0.108
18	2599010	T	C	18	2599011	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.48017365310772E-5	0.024
18	2599010	T	G	18	2599011	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.40347786820212E-4	0.092
18	2599011	C	A	18	2599012	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00283743891281277	0.206
18	2599011	C	G	18	2599012	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.00255709937626E-4	0.046
18	2599011	C	T	18	2599012	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.8895722743662E-5	0.036
18	2599012	T	A	18	2599013	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.34286167713083E-4	0.09
18	2599012	T	C	18	2599013	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.58873385656021E-5	0.002
18	2599012	T	G	18	2599013	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.38740321681414E-4	0.126
18	2599013	T	A	18	2599014	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.50503877513649E-4	0.202
18	2599013	T	C	18	2599014	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.47955362874155E-5	0.016
18	2599013	T	G	18	2599014	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.83472197122933E-4	0.188
18	2599014	A	C	18	2599015	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.2763911445593E-5	0.022
18	2599014	A	G	18	2599015	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.94732090865539E-5	0.014
18	2599014	A	T	18	2599015	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.11766598733829E-5	0.038
18	2599015	C	A	18	2599016	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.651519773861671	0.466
18	2599015	C	G	18	2599016	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99970045699218	0.914
18	2599015	C	T	18	2599016	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00803005754226723	0.166
18	2599016	A	C	18	2599017	y	y	splicing	NDC80(NM_006101:exon12:c.1222-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1222-2A>C)	.	.	0.99994568797423	0.946
18	2599016	A	G	18	2599017	y	y	splicing	NDC80(NM_006101:exon12:c.1222-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1222-2A>G)	.	.	0.99994568797423	0.946
18	2599016	A	T	18	2599017	y	y	splicing	NDC80(NM_006101:exon12:c.1222-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1222-2A>T)	.	.	0.99994568797423	0.942
18	2599017	G	A	18	2599018	y	y	splicing	NDC80(NM_006101:exon12:c.1222-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1222-1G>A)	.	.	0.999974090184857	0.938
18	2599017	G	C	18	2599018	y	y	splicing	NDC80(NM_006101:exon12:c.1222-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1222-1G>C)	.	.	0.99993314117114	0.932
18	2599017	G	T	18	2599018	y	y	splicing	NDC80(NM_006101:exon12:c.1222-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1222-1G>T)	.	.	0.999974090184857	0.932
18	2599018	A	C	18	2599019	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.A1222C:p.I408L;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.A1222C:p.I408L;	0.00296931992988393	0.07
18	2599018	A	G	18	2599019	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.A1222G:p.I408V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.A1222G:p.I408V;	2.6214461625098E-4	0.014
18	2599018	A	T	18	2599019	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.A1222T:p.I408F;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.A1222T:p.I408F;	0.252575673379764	0.516
18	2599019	T	A	18	2599020	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.T1223A:p.I408N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.T1223A:p.I408N;	0.16913123598152	0.41
18	2599019	T	C	18	2599020	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.T1223C:p.I408T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.T1223C:p.I408T;	0.00241241342887967	0.064
18	2599019	T	G	18	2599020	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.T1223G:p.I408S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.T1223G:p.I408S;	0.0138093689484724	0.11
18	2599168	T	A	18	2599169	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.T1372A:p.Y458N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.T1372A:p.Y458N;	6.0070501630414E-4	0.016
18	2599168	T	C	18	2599169	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.T1372C:p.Y458H;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.T1372C:p.Y458H;	6.70948556099804E-4	0.008
18	2599168	T	G	18	2599169	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.T1372G:p.Y458D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.T1372G:p.Y458D;	0.00207108477645889	0.05
18	2599169	A	C	18	2599170	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.A1373C:p.Y458S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.A1373C:p.Y458S;	0.579374833913037	0.68
18	2599169	A	G	18	2599170	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.A1373G:p.Y458C;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.A1373G:p.Y458C;	0.994230467239213	0.92
18	2599169	A	T	18	2599170	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon12:c.A1373T:p.Y458F;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.A1373T:p.Y458F;	0.993598505020293	0.896
18	2599170	T	A	18	2599171	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon12:c.T1374A:p.Y458X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon12:c.T1374A:p.Y458X;	4.48238588433077E-4	0.356
18	2599170	T	C	18	2599171	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon12:c.T1374C:p.Y458Y;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon12:c.T1374C:p.Y458Y;	1.38142977487078E-4	0.086
18	2599170	T	G	18	2599171	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon12:c.T1374G:p.Y458X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon12:c.T1374G:p.Y458X;	2.75210287743073E-4	0.448
18	2599171	G	A	18	2599172	y	y	splicing	NDC80(NM_006101:exon12:c.1374+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1374+1G>A)	.	.	0.999976137096505	0.942
18	2599171	G	C	18	2599172	y	y	splicing	NDC80(NM_006101:exon12:c.1374+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1374+1G>C)	.	.	0.999938422912956	0.94
18	2599171	G	T	18	2599172	y	y	splicing	NDC80(NM_006101:exon12:c.1374+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1374+1G>T)	.	.	0.999976137096505	0.94
18	2599172	T	A	18	2599173	y	y	splicing	NDC80(NM_006101:exon12:c.1374+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1374+2T>A)	.	.	0.999966203349492	0.938
18	2599172	T	C	18	2599173	y	y	splicing	NDC80(NM_006101:exon12:c.1374+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1374+2T>C)	.	.	0.95682097519285	0.65
18	2599172	T	G	18	2599173	y	y	splicing	NDC80(NM_006101:exon12:c.1374+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon12:c.1374+2T>G)	.	.	0.999966203349492	0.944
18	2599173	A	C	18	2599174	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999238442804971	0.868
18	2599173	A	G	18	2599174	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0300764962022464	0.208
18	2599173	A	T	18	2599174	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998179146108831	0.82
18	2599174	A	C	18	2599175	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.886700354191582	0.6
18	2599174	A	G	18	2599175	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.995650856240672	0.762
18	2599174	A	T	18	2599175	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.973285530043151	0.634
18	2599175	G	A	18	2599176	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999951326646273	0.91
18	2599175	G	C	18	2599176	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999661222757131	0.854
18	2599175	G	T	18	2599176	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99999247516388	0.906
18	2599176	T	A	18	2599177	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.900710931215274	0.632
18	2599176	T	C	18	2599177	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.669194805897617	0.518
18	2599176	T	G	18	2599177	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.413651677949166	0.514
18	2599177	A	C	18	2599178	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.64656354944891E-4	0.012
18	2599177	A	G	18	2599178	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.64656354944891E-4	0.012
18	2599177	A	T	18	2599178	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00114003520415818	0.038
18	2599178	A	C	18	2599179	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.95803593349477E-4	0.008
18	2599178	A	G	18	2599179	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.95803593349477E-4	0.006
18	2599178	A	T	18	2599179	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.64656354944891E-4	0.006
18	2601383	T	A	18	2601384	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998789830354018	0.94
18	2601383	T	C	18	2601384	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.62276682420004E-5	0.018
18	2601383	T	G	18	2601384	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998492741890801	0.94
18	2601384	G	A	18	2601385	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.75995803552431E-5	0.02
18	2601384	G	C	18	2601385	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.16207077287594E-5	0.018
18	2601384	G	T	18	2601385	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.40095489119141E-5	0.026
18	2601385	T	A	18	2601386	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.043584063646289	0.4
18	2601385	T	C	18	2601386	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.3473361220335E-5	0.042
18	2601385	T	G	18	2601386	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0499805291570657	0.39
18	2601386	A	C	18	2601387	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.24005117990147E-5	0.006
18	2601386	A	G	18	2601387	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.06730858270396E-5	0.004
18	2601386	A	T	18	2601387	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.77462746851893E-5	0.02
18	2601387	T	A	18	2601388	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0117903676537115	0.282
18	2601387	T	C	18	2601388	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.5023757127014E-5	0.032
18	2601387	T	G	18	2601388	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999042208282427	0.958
18	2601388	T	A	18	2601389	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.096061868914711	0.264
18	2601388	T	C	18	2601389	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.0205501437846E-4	0.028
18	2601388	T	G	18	2601389	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0768092683834246	0.256
18	2601389	T	A	18	2601390	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.108672245006664	0.352
18	2601389	T	C	18	2601390	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.67774261538815E-5	0.01
18	2601389	T	G	18	2601390	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.148765153889874	0.434
18	2601390	T	A	18	2601391	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0830425223425582	0.396
18	2601390	T	C	18	2601391	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.56518631645649E-4	0.006
18	2601390	T	G	18	2601391	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0862617168803982	0.336
18	2601391	A	C	18	2601392	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.69174930880686E-5	0.004
18	2601391	A	G	18	2601392	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.86732681022983E-5	0.0
18	2601391	A	T	18	2601392	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.23057621450499E-5	0.0
18	2601392	T	A	18	2601393	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0183408945972997	0.132
18	2601392	T	C	18	2601393	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.78769186581367E-4	0.058
18	2601392	T	G	18	2601393	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99880714493825	0.738
18	2601393	A	C	18	2601394	y	y	splicing	NDC80(NM_006101:exon13:c.1375-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1375-2A>C)	.	.	0.999988109495442	0.914
18	2601393	A	G	18	2601394	y	y	splicing	NDC80(NM_006101:exon13:c.1375-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1375-2A>G)	.	.	0.999988109495442	0.912
18	2601393	A	T	18	2601394	y	y	splicing	NDC80(NM_006101:exon13:c.1375-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1375-2A>T)	.	.	0.999988510283643	0.934
18	2601394	G	A	18	2601395	y	y	splicing	NDC80(NM_006101:exon13:c.1375-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1375-1G>A)	.	.	0.999946188727699	0.948
18	2601394	G	C	18	2601395	y	y	splicing	NDC80(NM_006101:exon13:c.1375-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1375-1G>C)	.	.	0.999946188727699	0.932
18	2601394	G	T	18	2601395	y	y	splicing	NDC80(NM_006101:exon13:c.1375-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1375-1G>T)	.	.	0.999946188727699	0.946
18	2601395	G	A	18	2601396	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.G1375A:p.V459I;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.G1375A:p.V459I;	0.0377491176271107	0.456
18	2601395	G	C	18	2601396	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.G1375C:p.V459L;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.G1375C:p.V459L;	0.697849100941872	0.504
18	2601395	G	T	18	2601396	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.G1375T:p.V459L;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.G1375T:p.V459L;	0.750961373523969	0.564
18	2601396	T	A	18	2601397	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.T1376A:p.V459E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.T1376A:p.V459E;	1.99116682390341E-4	0.012
18	2601396	T	C	18	2601397	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.T1376C:p.V459A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.T1376C:p.V459A;	7.76396248691263E-5	0.008
18	2601396	T	G	18	2601397	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.T1376G:p.V459G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.T1376G:p.V459G;	4.54552984626343E-4	0.014
18	2601482	C	A	18	2601483	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.C1462A:p.Q488K;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.C1462A:p.Q488K;	0.806828390747378	0.518
18	2601482	C	G	18	2601483	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.C1462G:p.Q488E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.C1462G:p.Q488E;	0.753923952419316	0.538
18	2601482	C	T	18	2601483	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon13:c.C1462T:p.Q488X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon13:c.C1462T:p.Q488X;	0.994443392494564	0.81
18	2601483	A	C	18	2601484	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.A1463C:p.Q488P;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.A1463C:p.Q488P;	0.996611482747742	0.936
18	2601483	A	G	18	2601484	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.A1463G:p.Q488R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.A1463G:p.Q488R;	0.994661410940168	0.948
18	2601483	A	T	18	2601484	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.A1463T:p.Q488L;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.A1463T:p.Q488L;	0.998321214063495	0.902
18	2601484	A	C	18	2601485	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.A1464C:p.Q488H;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.A1464C:p.Q488H;	5.6481079194315E-4	0.032
18	2601484	A	G	18	2601485	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon13:c.A1464G:p.Q488Q;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.A1464G:p.Q488Q;	2.21843683508259E-5	0.032
18	2601484	A	T	18	2601485	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon13:c.A1464T:p.Q488H;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon13:c.A1464T:p.Q488H;	0.00153185915292918	0.148
18	2601485	G	A	18	2601486	y	y	splicing	NDC80(NM_006101:exon13:c.1464+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1464+1G>A)	.	.	0.99994568797423	0.948
18	2601485	G	C	18	2601486	y	y	splicing	NDC80(NM_006101:exon13:c.1464+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1464+1G>C)	.	.	0.999946188727699	0.948
18	2601485	G	T	18	2601486	y	y	splicing	NDC80(NM_006101:exon13:c.1464+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1464+1G>T)	.	.	0.99994568797423	0.948
18	2601486	T	A	18	2601487	y	y	splicing	NDC80(NM_006101:exon13:c.1464+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1464+2T>A)	.	.	0.9999784785434	0.946
18	2601486	T	C	18	2601487	y	y	splicing	NDC80(NM_006101:exon13:c.1464+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1464+2T>C)	.	.	0.974615351362425	0.586
18	2601486	T	G	18	2601487	y	y	splicing	NDC80(NM_006101:exon13:c.1464+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon13:c.1464+2T>G)	.	.	0.9999784785434	0.938
18	2601487	A	C	18	2601488	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99890279646281	0.796
18	2601487	A	G	18	2601488	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00239029744024915	0.052
18	2601487	A	T	18	2601488	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.978808818650081	0.63
18	2601488	A	C	18	2601489	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.789910441783569	0.488
18	2601488	A	G	18	2601489	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.9590893870026	0.614
18	2601488	A	T	18	2601489	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.670243396477605	0.546
18	2601489	G	A	18	2601490	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.993823401292266	0.822
18	2601489	G	C	18	2601490	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998004651478352	0.846
18	2601489	G	T	18	2601490	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998215825807146	0.858
18	2601490	T	A	18	2601491	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.18763828056232	0.37
18	2601490	T	C	18	2601491	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.324284953460992	0.476
18	2601490	T	G	18	2601491	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0667255367041711	0.336
18	2601491	A	C	18	2601492	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.72499450403343E-4	0.006
18	2601491	A	G	18	2601492	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.72499450403343E-4	0.008
18	2601491	A	T	18	2601492	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.08116006640519E-4	0.02
18	2601492	A	C	18	2601493	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.60817366407998E-5	0.018
18	2601492	A	G	18	2601493	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.60817366407998E-5	0.028
18	2601492	A	T	18	2601493	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.60817366407998E-5	0.018
18	2606402	T	A	18	2606403	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00162022140585455	0.108
18	2606402	T	C	18	2606403	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.44917970180874E-4	0.052
18	2606402	T	G	18	2606403	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.96879945235958E-4	0.064
18	2606403	T	A	18	2606404	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.112006836552112	0.384
18	2606403	T	C	18	2606404	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0131223704105973	0.13
18	2606403	T	G	18	2606404	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0944250636866925	0.312
18	2606404	A	C	18	2606405	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.8360576786772E-4	0.0
18	2606404	A	G	18	2606405	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.93808389965285E-4	0.004
18	2606404	A	T	18	2606405	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.76519406067074E-4	0.004
18	2606405	T	A	18	2606406	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.018510520323089	0.25
18	2606405	T	C	18	2606406	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0249769840337352	0.1
18	2606405	T	G	18	2606406	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999966978320591	0.976
18	2606406	T	A	18	2606407	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0219738419095794	0.264
18	2606406	T	C	18	2606407	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00165886731303768	0.11
18	2606406	T	G	18	2606407	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00511555803242391	0.172
18	2606407	T	A	18	2606408	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0112525896748144	0.146
18	2606407	T	C	18	2606408	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.7373268054612E-5	0.012
18	2606407	T	G	18	2606408	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00865431492848135	0.136
18	2606408	C	A	18	2606409	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0118992791711609	0.354
18	2606408	C	G	18	2606409	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0146514318003384	0.366
18	2606408	C	T	18	2606409	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.09978702692755E-4	0.05
18	2606409	C	A	18	2606410	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.28984459866833E-4	0.08
18	2606409	C	G	18	2606410	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00154580848340692	0.124
18	2606409	C	T	18	2606410	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.45695407966064E-5	0.006
18	2606410	C	A	18	2606411	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.95565331091975E-6	0.0
18	2606410	C	G	18	2606411	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.95565331091975E-6	0.0
18	2606410	C	T	18	2606411	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.1926817571909E-5	0.058
18	2606411	C	A	18	2606412	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.946964018759912	0.564
18	2606411	C	G	18	2606412	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.996305698579397	0.724
18	2606411	C	T	18	2606412	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.21651434176268E-4	0.044
18	2606412	A	C	18	2606413	y	y	splicing	NDC80(NM_006101:exon14:c.1465-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1465-2A>C)	.	.	0.999984399620937	0.754
18	2606412	A	G	18	2606413	y	y	splicing	NDC80(NM_006101:exon14:c.1465-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1465-2A>G)	.	.	0.999984399620937	0.754
18	2606412	A	T	18	2606413	y	y	splicing	NDC80(NM_006101:exon14:c.1465-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1465-2A>T)	.	.	0.999980255680118	0.752
18	2606413	G	A	18	2606414	y	y	splicing	NDC80(NM_006101:exon14:c.1465-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1465-1G>A)	.	.	0.999977614472875	0.8
18	2606413	G	C	18	2606414	y	y	splicing	NDC80(NM_006101:exon14:c.1465-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1465-1G>C)	.	.	0.999977614472875	0.766
18	2606413	G	T	18	2606414	y	y	splicing	NDC80(NM_006101:exon14:c.1465-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1465-1G>T)	.	.	0.999977614472875	0.758
18	2606414	T	A	18	2606415	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.T1465A:p.L489M;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.T1465A:p.L489M;	8.12491640831494E-5	0.004
18	2606414	T	C	18	2606415	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon14:c.T1465C:p.L489L;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.T1465C:p.L489L;	4.93123721388231E-5	0.004
18	2606414	T	G	18	2606415	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.T1465G:p.L489V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.T1465G:p.L489V;	4.41745261896026E-5	0.074
18	2606415	T	A	18	2606416	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon14:c.T1466A:p.L489X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon14:c.T1466A:p.L489X;	0.855488334016948	0.528
18	2606415	T	C	18	2606416	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.T1466C:p.L489S;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.T1466C:p.L489S;	0.0325452703144715	0.134
18	2606415	T	G	18	2606416	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.T1466G:p.L489W;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.T1466G:p.L489W;	0.252307299854607	0.29
18	2606504	A	C	18	2606505	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.A1555C:p.K519Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.A1555C:p.K519Q;	0.00184777503481997	0.032
18	2606504	A	G	18	2606505	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.A1555G:p.K519E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.A1555G:p.K519E;	6.86448741487702E-4	0.048
18	2606504	A	T	18	2606505	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon14:c.A1555T:p.K519X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon14:c.A1555T:p.K519X;	0.948385190104006	0.578
18	2606505	A	C	18	2606506	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.A1556C:p.K519T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.A1556C:p.K519T;	0.655433004086398	0.656
18	2606505	A	G	18	2606506	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.A1556G:p.K519R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.A1556G:p.K519R;	0.593625997561594	0.586
18	2606505	A	T	18	2606506	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.A1556T:p.K519M;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.A1556T:p.K519M;	0.713021882729227	0.536
18	2606506	G	A	18	2606507	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon14:c.G1557A:p.K519K;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.G1557A:p.K519K;	0.963709194714623	0.89
18	2606506	G	C	18	2606507	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.G1557C:p.K519N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.G1557C:p.K519N;	0.999943285793758	0.942
18	2606506	G	T	18	2606507	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon14:c.G1557T:p.K519N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon14:c.G1557T:p.K519N;	0.999862142441703	0.972
18	2606507	G	A	18	2606508	y	y	splicing	NDC80(NM_006101:exon14:c.1557+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1557+1G>A)	.	.	0.999986675681007	0.938
18	2606507	G	C	18	2606508	y	y	splicing	NDC80(NM_006101:exon14:c.1557+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1557+1G>C)	.	.	0.999986675681007	0.934
18	2606507	G	T	18	2606508	y	y	splicing	NDC80(NM_006101:exon14:c.1557+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1557+1G>T)	.	.	0.999986675681007	0.938
18	2606508	T	A	18	2606509	y	y	splicing	NDC80(NM_006101:exon14:c.1557+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1557+2T>A)	.	.	0.999989917668626	0.926
18	2606508	T	C	18	2606509	y	y	splicing	NDC80(NM_006101:exon14:c.1557+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1557+2T>C)	.	.	0.990945634311904	0.618
18	2606508	T	G	18	2606509	y	y	splicing	NDC80(NM_006101:exon14:c.1557+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon14:c.1557+2T>G)	.	.	0.999989917668626	0.926
18	2606509	A	C	18	2606510	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.212317374508868	0.364
18	2606509	A	G	18	2606510	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.9000741953348E-4	0.046
18	2606509	A	T	18	2606510	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.207828815053707	0.336
18	2606510	A	C	18	2606511	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0505047974576694	0.286
18	2606510	A	G	18	2606511	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0855548564783564	0.336
18	2606510	A	T	18	2606511	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0528714387365831	0.28
18	2606511	G	A	18	2606512	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.279684886528597	0.498
18	2606511	G	C	18	2606512	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.126237400717552	0.474
18	2606511	G	T	18	2606512	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.377580191436565	0.506
18	2606512	A	C	18	2606513	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.77030050004025E-5	0.04
18	2606512	A	G	18	2606513	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.08959193301357E-5	0.028
18	2606512	A	T	18	2606513	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.27637965436703E-5	0.012
18	2606513	A	C	18	2606514	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.85455578184536E-5	0.008
18	2606513	A	G	18	2606514	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.82879381280726E-5	0.006
18	2606513	A	T	18	2606514	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.85455578184536E-5	0.0
18	2606514	C	A	18	2606515	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.78847169436615E-5	0.004
18	2606514	C	G	18	2606515	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.78847169436615E-5	0.002
18	2606514	C	T	18	2606515	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.32008507961007E-5	0.0
18	2608687	T	A	18	2608688	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.750750136424971	0.746
18	2608687	T	C	18	2608688	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00144404444577171	0.078
18	2608687	T	G	18	2608688	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.898967926446578	0.74
18	2608688	T	A	18	2608689	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.916946920273387	0.676
18	2608688	T	C	18	2608689	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0343021309619461	0.202
18	2608688	T	G	18	2608689	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.914443094925167	0.514
18	2608689	A	C	18	2608690	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00105706787221649	0.026
18	2608689	A	G	18	2608690	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.56274336282852E-4	0.01
18	2608689	A	T	18	2608690	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.08219250626758E-4	0.038
18	2608690	T	A	18	2608691	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.345462886452335	0.592
18	2608690	T	C	18	2608691	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00159865155784935	0.156
18	2608690	T	G	18	2608691	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999558889156286	0.938
18	2608691	C	A	18	2608692	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0503894741722894	0.2
18	2608691	C	G	18	2608692	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0622937370308039	0.166
18	2608691	C	T	18	2608692	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.69631236922326E-4	0.0
18	2608692	C	A	18	2608693	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.64566018882627E-4	0.018
18	2608692	C	G	18	2608693	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.78872311065455E-4	0.048
18	2608692	C	T	18	2608693	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.89651530058835E-5	0.0
18	2608693	T	A	18	2608694	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.996863811086607	0.946
18	2608693	T	C	18	2608694	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.36264799645828E-4	0.004
18	2608693	T	G	18	2608694	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00361060973330543	0.224
18	2608694	G	A	18	2608695	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.55533203735188E-5	0.002
18	2608694	G	C	18	2608695	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.11086438918482E-4	0.002
18	2608694	G	T	18	2608695	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.05711105850154E-4	0.0
18	2608695	A	C	18	2608696	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.45319475309729E-4	0.006
18	2608695	A	G	18	2608696	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.66414038414823E-4	0.088
18	2608695	A	T	18	2608696	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.28355509574082E-5	0.014
18	2608696	T	A	18	2608697	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.118960521987781	0.364
18	2608696	T	C	18	2608697	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.63860640847876E-4	0.07
18	2608696	T	G	18	2608697	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998044726466493	0.73
18	2608697	A	C	18	2608698	y	y	splicing	NDC80(NM_006101:exon15:c.1558-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1558-2A>C)	.	.	0.999978278263889	0.924
18	2608697	A	G	18	2608698	y	y	splicing	NDC80(NM_006101:exon15:c.1558-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1558-2A>G)	.	.	0.999978278263889	0.924
18	2608697	A	T	18	2608698	y	y	splicing	NDC80(NM_006101:exon15:c.1558-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1558-2A>T)	.	.	0.999978278263889	0.92
18	2608698	G	A	18	2608699	y	y	splicing	NDC80(NM_006101:exon15:c.1558-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1558-1G>A)	.	.	0.999988247793601	0.926
18	2608698	G	C	18	2608699	y	y	splicing	NDC80(NM_006101:exon15:c.1558-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1558-1G>C)	.	.	0.999978952611685	0.928
18	2608698	G	T	18	2608699	y	y	splicing	NDC80(NM_006101:exon15:c.1558-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1558-1G>T)	.	.	0.999978952611685	0.928
18	2608699	G	A	18	2608700	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.G1558A:p.E520K;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.G1558A:p.E520K;	0.999252491047832	0.886
18	2608699	G	C	18	2608700	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.G1558C:p.E520Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.G1558C:p.E520Q;	0.999835110787683	0.97
18	2608699	G	T	18	2608700	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon15:c.G1558T:p.E520X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon15:c.G1558T:p.E520X;	0.999969010117411	0.97
18	2608700	A	C	18	2608701	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.A1559C:p.E520A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.A1559C:p.E520A;	0.838876546904662	0.702
18	2608700	A	G	18	2608701	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.A1559G:p.E520G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.A1559G:p.E520G;	0.724995712936844	0.67
18	2608700	A	T	18	2608701	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.A1559T:p.E520V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.A1559T:p.E520V;	0.673999004684315	0.614
18	2608827	G	A	18	2608828	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon15:c.G1686A:p.R562R;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.G1686A:p.R562R;	2.06481237244302E-5	0.0
18	2608827	G	C	18	2608828	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon15:c.G1686C:p.R562R;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.G1686C:p.R562R;	2.06481237244302E-5	0.0
18	2608827	G	T	18	2608828	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon15:c.G1686T:p.R562R;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.G1686T:p.R562R;	1.54934684076352E-4	0.0
18	2608828	G	A	18	2608829	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.G1687A:p.E563K;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.G1687A:p.E563K;	0.00552333511601923	0.084
18	2608828	G	C	18	2608829	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.G1687C:p.E563Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.G1687C:p.E563Q;	0.00216254976074513	0.052
18	2608828	G	T	18	2608829	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon15:c.G1687T:p.E563X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon15:c.G1687T:p.E563X;	0.987963640059805	0.828
18	2608829	A	C	18	2608830	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.A1688C:p.E563A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.A1688C:p.E563A;	0.0128797731359682	0.21
18	2608829	A	G	18	2608830	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.A1688G:p.E563G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.A1688G:p.E563G;	0.0022419660726812	0.056
18	2608829	A	T	18	2608830	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon15:c.A1688T:p.E563V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon15:c.A1688T:p.E563V;	0.0235309980102653	0.186
18	2608830	G	A	18	2608831	y	y	splicing	NDC80(NM_006101:exon15:c.1688+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1688+1G>A)	.	.	0.99994568797423	0.946
18	2608830	G	C	18	2608831	y	y	splicing	NDC80(NM_006101:exon15:c.1688+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1688+1G>C)	.	.	0.99994568797423	0.946
18	2608830	G	T	18	2608831	y	y	splicing	NDC80(NM_006101:exon15:c.1688+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1688+1G>T)	.	.	0.99994568797423	0.946
18	2608831	T	A	18	2608832	y	y	splicing	NDC80(NM_006101:exon15:c.1688+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1688+2T>A)	.	.	0.999978278263889	0.94
18	2608831	T	C	18	2608832	y	y	splicing	NDC80(NM_006101:exon15:c.1688+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1688+2T>C)	.	.	0.981330451227683	0.638
18	2608831	T	G	18	2608832	y	y	splicing	NDC80(NM_006101:exon15:c.1688+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon15:c.1688+2T>G)	.	.	0.999978278263889	0.952
18	2608832	A	C	18	2608833	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.998987831231456	0.802
18	2608832	A	G	18	2608833	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0256365305016076	0.258
18	2608832	A	T	18	2608833	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999107089164656	0.8
18	2608833	A	C	18	2608834	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.989215448640211	0.754
18	2608833	A	G	18	2608834	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.973803686888729	0.864
18	2608833	A	T	18	2608834	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.991137231488708	0.82
18	2608834	G	A	18	2608835	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999979975848644	0.996
18	2608834	G	C	18	2608835	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99998856556804	0.986
18	2608834	G	T	18	2608835	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999966671336738	0.992
18	2608835	T	A	18	2608836	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.901511555434434	0.704
18	2608835	T	C	18	2608836	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.976027922033184	0.846
18	2608835	T	G	18	2608836	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.891444771092024	0.764
18	2608836	T	A	18	2608837	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.33294772287058E-4	0.01
18	2608836	T	C	18	2608837	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.6771041456356E-4	0.01
18	2608836	T	G	18	2608837	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.6771041456356E-4	0.016
18	2608837	T	A	18	2608838	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.25993521755197E-5	0.0
18	2608837	T	C	18	2608838	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.11194981212355E-6	0.006
18	2608837	T	G	18	2608838	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.11194981212355E-6	0.008
18	2610746	T	A	18	2610747	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0967790974733195	0.236
18	2610746	T	C	18	2610747	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0095198172900378	0.078
18	2610746	T	G	18	2610747	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0386750384252514	0.23
18	2610747	T	A	18	2610748	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0433018600653223	0.26
18	2610747	T	C	18	2610748	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.82239026115506E-4	0.012
18	2610747	T	G	18	2610748	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00238269935514204	0.132
18	2610748	T	A	18	2610749	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999885957297852	0.946
18	2610748	T	C	18	2610749	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00152264594733517	0.084
18	2610748	T	G	18	2610749	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0188095350040572	0.124
18	2610749	G	A	18	2610750	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.21735698798819E-5	0.0
18	2610749	G	C	18	2610750	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.52434333888561E-5	0.0
18	2610749	G	T	18	2610750	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.39811183951353E-5	0.006
18	2610750	T	A	18	2610751	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0403709230067144	0.212
18	2610750	T	C	18	2610751	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00192751880538869	0.062
18	2610750	T	G	18	2610751	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0209532724859459	0.184
18	2610751	T	A	18	2610752	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0491285120992706	0.146
18	2610751	T	C	18	2610752	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.13327267108545E-4	0.008
18	2610751	T	G	18	2610752	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00735576445345774	0.08
18	2610752	C	A	18	2610753	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.173717732597371	0.434
18	2610752	C	G	18	2610753	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.169301496161125	0.446
18	2610752	C	T	18	2610753	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.40688129349224E-4	0.052
18	2610753	T	A	18	2610754	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00218263211689651	0.076
18	2610753	T	C	18	2610754	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.62200108858412E-4	0.046
18	2610753	T	G	18	2610754	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00207405442444386	0.106
18	2610754	A	C	18	2610755	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.81955962530684E-5	0.002
18	2610754	A	G	18	2610755	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.45979151833771E-4	0.004
18	2610754	A	T	18	2610755	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.47621717189606E-5	0.0
18	2610755	C	A	18	2610756	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.99602882757286	0.738
18	2610755	C	G	18	2610756	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.999900663877459	0.976
18	2610755	C	T	18	2610756	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00276937020746075	0.23
18	2610756	A	C	18	2610757	y	y	splicing	NDC80(NM_006101:exon16:c.1689-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1689-2A>C)	.	.	0.999994413342239	0.756
18	2610756	A	G	18	2610757	y	y	splicing	NDC80(NM_006101:exon16:c.1689-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1689-2A>G)	.	.	0.999994413342239	0.756
18	2610756	A	T	18	2610757	y	y	splicing	NDC80(NM_006101:exon16:c.1689-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1689-2A>T)	.	.	0.999994413342239	0.754
18	2610757	G	A	18	2610758	y	y	splicing	NDC80(NM_006101:exon16:c.1689-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1689-1G>A)	.	.	0.999989378869813	0.758
18	2610757	G	C	18	2610758	y	y	splicing	NDC80(NM_006101:exon16:c.1689-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1689-1G>C)	.	.	0.999989378869813	0.762
18	2610757	G	T	18	2610758	y	y	splicing	NDC80(NM_006101:exon16:c.1689-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1689-1G>T)	.	.	0.999989378869813	0.76
18	2610758	A	C	18	2610759	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.A1689C:p.E563D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.A1689C:p.E563D;	0.00243530993205621	0.22
18	2610758	A	G	18	2610759	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon16:c.A1689G:p.E563E;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.A1689G:p.E563E;	1.94530440469937E-5	0.004
18	2610758	A	T	18	2610759	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.A1689T:p.E563D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.A1689T:p.E563D;	0.00362251056690085	0.148
18	2610759	T	A	18	2610760	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.T1690A:p.Y564N;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.T1690A:p.Y564N;	0.0021518173803133	0.084
18	2610759	T	C	18	2610760	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.T1690C:p.Y564H;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.T1690C:p.Y564H;	5.78790254757386E-4	0.058
18	2610759	T	G	18	2610760	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.T1690G:p.Y564D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.T1690G:p.Y564D;	0.00438579545724237	0.052
18	2610858	G	A	18	2610859	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.G1789A:p.E597K;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.G1789A:p.E597K;ENSG00000080986:ENST00000574096:exon1:c.G79A:p.E27K;	0.913815566060573	0.726
18	2610858	G	C	18	2610859	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.G1789C:p.E597Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.G1789C:p.E597Q;ENSG00000080986:ENST00000574096:exon1:c.G79C:p.E27Q;	0.320394316009545	0.424
18	2610858	G	T	18	2610859	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon16:c.G1789T:p.E597X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon16:c.G1789T:p.E597X;ENSG00000080986:ENST00000574096:exon1:c.G79T:p.E27X;	0.976758394674716	0.85
18	2610859	A	C	18	2610860	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.A1790C:p.E597A;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.A1790C:p.E597A;ENSG00000080986:ENST00000574096:exon1:c.A80C:p.E27A;	0.976187276082984	0.74
18	2610859	A	G	18	2610860	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.A1790G:p.E597G;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.A1790G:p.E597G;ENSG00000080986:ENST00000574096:exon1:c.A80G:p.E27G;	0.991255701719998	0.894
18	2610859	A	T	18	2610860	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.A1790T:p.E597V;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.A1790T:p.E597V;ENSG00000080986:ENST00000574096:exon1:c.A80T:p.E27V;	0.431335126932325	0.492
18	2610860	G	A	18	2610861	y	y	exonic	NDC80	synonymous SNV	NDC80:NM_006101:exon16:c.G1791A:p.E597E;	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.G1791A:p.E597E;ENSG00000080986:ENST00000574096:exon1:c.G81A:p.E27E;	0.083382214691005	0.278
18	2610860	G	C	18	2610861	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.G1791C:p.E597D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.G1791C:p.E597D;ENSG00000080986:ENST00000574096:exon1:c.G81C:p.E27D;	0.852625291296658	0.776
18	2610860	G	T	18	2610861	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon16:c.G1791T:p.E597D;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon16:c.G1791T:p.E597D;ENSG00000080986:ENST00000574096:exon1:c.G81T:p.E27D;	0.704471065811918	0.704
18	2610861	G	A	18	2610862	y	y	splicing	NDC80(NM_006101:exon16:c.1791+1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1791+1G>A;ENST00000574096:exon1:c.81+1G>A)	.	.	0.999952286258862	0.876
18	2610861	G	C	18	2610862	y	y	splicing	NDC80(NM_006101:exon16:c.1791+1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1791+1G>C;ENST00000574096:exon1:c.81+1G>C)	.	.	0.99995299556238	0.86
18	2610861	G	T	18	2610862	y	y	splicing	NDC80(NM_006101:exon16:c.1791+1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1791+1G>T;ENST00000574096:exon1:c.81+1G>T)	.	.	0.999952286258862	0.862
18	2610862	T	A	18	2610863	y	y	splicing	NDC80(NM_006101:exon16:c.1791+2T>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1791+2T>A;ENST00000574096:exon1:c.81+2T>A)	.	.	0.999969255906173	0.842
18	2610862	T	C	18	2610863	y	y	splicing	NDC80(NM_006101:exon16:c.1791+2T>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1791+2T>C;ENST00000574096:exon1:c.81+2T>C)	.	.	0.88012629458119	0.568
18	2610862	T	G	18	2610863	y	y	splicing	NDC80(NM_006101:exon16:c.1791+2T>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon16:c.1791+2T>G;ENST00000574096:exon1:c.81+2T>G)	.	.	0.999962958601995	0.838
18	2610863	A	C	18	2610864	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.455040729802629	0.518
18	2610863	A	G	18	2610864	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	8.77324163011272E-4	0.088
18	2610863	A	T	18	2610864	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.454955464506841	0.506
18	2610864	A	C	18	2610865	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0196131216352934	0.282
18	2610864	A	G	18	2610865	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0266586157005081	0.304
18	2610864	A	T	18	2610865	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0269903620585182	0.232
18	2610865	G	A	18	2610866	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.554136951474552	0.418
18	2610865	G	C	18	2610866	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.775315698219559	0.42
18	2610865	G	T	18	2610866	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.634586299723038	0.418
18	2610866	T	A	18	2610867	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.0877032023164E-4	0.03
18	2610866	T	C	18	2610867	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00138536859271591	0.088
18	2610866	T	G	18	2610867	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.05138253236132E-4	0.024
18	2610867	A	C	18	2610868	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.15941453541388E-5	0.004
18	2610867	A	G	18	2610868	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.52297880296295E-5	0.0
18	2610867	A	T	18	2610868	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.52297880296295E-5	0.014
18	2610868	T	A	18	2610869	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.55141241441508E-5	0.004
18	2610868	T	C	18	2610869	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.44224333356103E-5	0.0
18	2610868	T	G	18	2610869	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.7709211302018E-5	0.004
18	2614941	G	A	18	2614942	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.14301101535901E-5	0.0
18	2614941	G	C	18	2614942	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.68219155180855E-5	0.0
18	2614941	G	T	18	2614942	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.14301101535901E-5	0.0
18	2614942	T	A	18	2614943	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.64774154134373E-5	0.002
18	2614942	T	C	18	2614943	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.52706805797628E-5	0.0
18	2614942	T	G	18	2614943	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.52706805797628E-5	0.0
18	2614943	G	A	18	2614944	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.52706805797628E-5	0.0
18	2614943	G	C	18	2614944	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.52706805797628E-5	0.0
18	2614943	G	T	18	2614944	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.52706805797628E-5	0.0
18	2614944	T	A	18	2614945	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.64774154134373E-5	0.004
18	2614944	T	C	18	2614945	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.52706805797628E-5	0.0
18	2614944	T	G	18	2614945	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.52706805797628E-5	0.0
18	2614945	G	A	18	2614946	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.656257225066E-5	0.102
18	2614945	G	C	18	2614946	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.36706235441767E-5	0.098
18	2614945	G	T	18	2614946	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.36706235441767E-5	0.098
18	2614946	C	A	18	2614947	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.68219155180855E-5	0.0
18	2614946	C	G	18	2614947	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.24315439998527E-5	0.004
18	2614946	C	T	18	2614947	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.4103259950648E-5	0.034
18	2614947	G	A	18	2614948	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.14301101535901E-5	0.004
18	2614947	G	C	18	2614948	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.68219155180855E-5	0.002
18	2614947	G	T	18	2614948	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.68219155180855E-5	0.002
18	2614948	G	A	18	2614949	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.40731724942565E-5	0.0
18	2614948	G	C	18	2614949	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.40731724942565E-5	0.0
18	2614948	G	T	18	2614949	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.40731724942565E-5	0.0
18	2614949	A	C	18	2614950	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.02657524923954E-5	0.046
18	2614949	A	G	18	2614950	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.02657524923954E-5	0.046
18	2614949	A	T	18	2614950	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.02657524923954E-5	0.046
18	2614950	C	A	18	2614951	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.88617034369045E-6	0.0
18	2614950	C	G	18	2614951	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.88617034369045E-6	0.0
18	2614950	C	T	18	2614951	n	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	9.88617034369045E-6	0.0
18	2614951	A	C	18	2614952	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000574096:exon2:c.82-2A>C)	.	.	1.76502774581184E-5	0.0
18	2614951	A	G	18	2614952	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000574096:exon2:c.82-2A>G)	.	.	1.76502774581184E-5	0.0
18	2614951	A	T	18	2614952	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000574096:exon2:c.82-2A>T)	.	.	1.76502774581184E-5	0.0
18	2614952	G	A	18	2614953	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000574096:exon2:c.82-1G>A)	.	.	1.52706805797628E-5	0.0
18	2614952	G	C	18	2614953	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000574096:exon2:c.82-1G>C)	.	.	1.52706805797628E-5	0.0
18	2614952	G	T	18	2614953	n	y	intronic	NDC80	.	.	splicing	ENSG00000080986(ENST00000574096:exon2:c.82-1G>T)	.	.	1.52706805797628E-5	0.0
18	2614953	A	C	18	2614954	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	synonymous SNV	ENSG00000080986:ENST00000574096:exon2:c.A82C:p.R28R;	4.02657524923954E-5	0.048
18	2614953	A	G	18	2614954	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000574096:exon2:c.A82G:p.R28G;	4.02657524923954E-5	0.046
18	2614953	A	T	18	2614954	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000574096:exon2:c.A82T:p.R28W;	1.22809391682198E-4	0.022
18	2614954	G	A	18	2614955	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000574096:exon2:c.G83A:p.R28K;	6.48997428884123E-5	0.04
18	2614954	G	C	18	2614955	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000574096:exon2:c.G83C:p.R28T;	3.656257225066E-5	0.102
18	2614954	G	T	18	2614955	n	y	intronic	NDC80	.	.	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000574096:exon2:c.G83T:p.R28M;	3.656257225066E-5	0.102
18	2616424	T	A	18	2616425	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.306678035621364	0.438
18	2616424	T	C	18	2616425	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.40309338128581E-4	0.026
18	2616424	T	G	18	2616425	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.304472705712097	0.412
18	2616425	C	A	18	2616426	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.49101590784183E-4	0.062
18	2616425	C	G	18	2616426	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	6.8418093471075E-5	0.008
18	2616425	C	T	18	2616426	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.58131074525717E-5	0.002
18	2616426	T	A	18	2616427	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.851228756834884	0.57
18	2616426	T	C	18	2616427	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00488936125694844	0.116
18	2616426	T	G	18	2616427	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.418780829915296	0.554
18	2616427	C	A	18	2616428	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0013559319686813	0.106
18	2616427	C	G	18	2616428	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.77679385031667E-4	0.088
18	2616427	C	T	18	2616428	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	7.37909718061844E-4	0.0
18	2616428	T	A	18	2616429	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.221016601949941	0.332
18	2616428	T	C	18	2616429	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.67079754151008E-4	0.03
18	2616428	T	G	18	2616429	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0708678131706728	0.336
18	2616429	T	A	18	2616430	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00457626181470934	0.132
18	2616429	T	C	18	2616430	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.20553873077094E-5	0.012
18	2616429	T	G	18	2616430	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00137262826693669	0.12
18	2616430	C	A	18	2616431	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.0186591125415932	0.184
18	2616430	C	G	18	2616431	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00730471491893404	0.204
18	2616430	C	T	18	2616431	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.26332174945966E-4	0.004
18	2616431	A	C	18	2616432	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	3.52314293714592E-5	0.052
18	2616431	A	G	18	2616432	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	1.5067398104979E-5	0.008
18	2616431	A	T	18	2616432	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	4.47639436746579E-5	0.018
18	2616432	C	A	18	2616433	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	2.0650014591424E-4	0.0
18	2616432	C	G	18	2616433	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.962587355106374	0.836
18	2616432	C	T	18	2616433	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	5.31250976520743E-4	0.0
18	2616433	T	A	18	2616434	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.301844502130163	0.554
18	2616433	T	C	18	2616434	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.00116615850322831	0.046
18	2616433	T	G	18	2616434	y	y	intronic	NDC80	.	.	intronic	ENSG00000080986	.	.	0.995110039791408	0.696
18	2616434	A	C	18	2616435	y	y	splicing	NDC80(NM_006101:exon17:c.1792-2A>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon17:c.1792-2A>C)	.	.	0.99994568797423	0.918
18	2616434	A	G	18	2616435	y	y	splicing	NDC80(NM_006101:exon17:c.1792-2A>G)	.	.	splicing	ENSG00000080986(ENST00000261597:exon17:c.1792-2A>G)	.	.	0.99994568797423	0.924
18	2616434	A	T	18	2616435	y	y	splicing	NDC80(NM_006101:exon17:c.1792-2A>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon17:c.1792-2A>T)	.	.	0.999970661931818	0.924
18	2616435	G	A	18	2616436	y	y	splicing	NDC80(NM_006101:exon17:c.1792-1G>A)	.	.	splicing	ENSG00000080986(ENST00000261597:exon17:c.1792-1G>A)	.	.	0.999976137096505	0.922
18	2616435	G	C	18	2616436	y	y	splicing	NDC80(NM_006101:exon17:c.1792-1G>C)	.	.	splicing	ENSG00000080986(ENST00000261597:exon17:c.1792-1G>C)	.	.	0.999938422912956	0.922
18	2616435	G	T	18	2616436	y	y	splicing	NDC80(NM_006101:exon17:c.1792-1G>T)	.	.	splicing	ENSG00000080986(ENST00000261597:exon17:c.1792-1G>T)	.	.	0.999966737406901	0.922
18	2616436	A	C	18	2616437	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon17:c.A1792C:p.K598Q;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon17:c.A1792C:p.K598Q;	0.392357560362755	0.462
18	2616436	A	G	18	2616437	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon17:c.A1792G:p.K598E;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon17:c.A1792G:p.K598E;	0.0202544679375528	0.218
18	2616436	A	T	18	2616437	y	y	exonic	NDC80	stopgain SNV	NDC80:NM_006101:exon17:c.A1792T:p.K598X;	exonic	ENSG00000080986	stopgain SNV	ENSG00000080986:ENST00000261597:exon17:c.A1792T:p.K598X;	0.77138203379942	0.55
18	2616437	A	C	18	2616438	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon17:c.A1793C:p.K598T;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon17:c.A1793C:p.K598T;	9.5082944970446E-4	0.086
18	2616437	A	G	18	2616438	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon17:c.A1793G:p.K598R;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon17:c.A1793G:p.K598R;	0.00281004009298526	0.062
18	2616437	A	T	18	2616438	y	y	exonic	NDC80	nonsynonymous SNV	NDC80:NM_006101:exon17:c.A1793T:p.K598I;	exonic	ENSG00000080986	nonsynonymous SNV	ENSG00000080986:ENST00000261597:exon17:c.A1793T:p.K598I;	0.00441953589643911	0.072
18	2656258	C	A	18	2656259	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon1:c.C184A:p.Q62K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon1:c.C184A:p.Q62K;ENSG00000101596:ENST00000261598:exon1:c.C184A:p.Q62K;	0.0252569731552936	0.142
18	2656258	C	G	18	2656259	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon1:c.C184G:p.Q62E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon1:c.C184G:p.Q62E;ENSG00000101596:ENST00000261598:exon1:c.C184G:p.Q62E;	0.00377089043558139	0.058
18	2656258	C	T	18	2656259	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon1:c.C184T:p.Q62X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon1:c.C184T:p.Q62X;ENSG00000101596:ENST00000261598:exon1:c.C184T:p.Q62X;	0.994040888013291	0.876
18	2656259	A	C	18	2656260	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon1:c.A185C:p.Q62P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon1:c.A185C:p.Q62P;ENSG00000101596:ENST00000261598:exon1:c.A185C:p.Q62P;	0.902263811946405	0.642
18	2656259	A	G	18	2656260	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon1:c.A185G:p.Q62R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon1:c.A185G:p.Q62R;ENSG00000101596:ENST00000261598:exon1:c.A185G:p.Q62R;	0.870758067892633	0.716
18	2656259	A	T	18	2656260	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon1:c.A185T:p.Q62L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon1:c.A185T:p.Q62L;ENSG00000101596:ENST00000261598:exon1:c.A185T:p.Q62L;	0.951619941602455	0.916
18	2656260	G	A	18	2656261	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon1:c.G186A:p.Q62Q;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon1:c.G186A:p.Q62Q;ENSG00000101596:ENST00000261598:exon1:c.G186A:p.Q62Q;	0.996625295793431	0.882
18	2656260	G	C	18	2656261	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon1:c.G186C:p.Q62H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon1:c.G186C:p.Q62H;ENSG00000101596:ENST00000261598:exon1:c.G186C:p.Q62H;	0.999975215728619	0.91
18	2656260	G	T	18	2656261	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon1:c.G186T:p.Q62H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon1:c.G186T:p.Q62H;ENSG00000101596:ENST00000261598:exon1:c.G186T:p.Q62H;	0.990991333261802	0.844
18	2656261	G	A	18	2656262	y	y	splicing	SMCHD1(NM_015295:exon1:c.186+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon1:c.186+1G>A;ENST00000261598:exon1:c.186+1G>A)	.	.	0.999968430223941	0.872
18	2656261	G	C	18	2656262	y	y	splicing	SMCHD1(NM_015295:exon1:c.186+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon1:c.186+1G>C;ENST00000261598:exon1:c.186+1G>C)	.	.	0.999965143305126	0.85
18	2656261	G	T	18	2656262	y	y	splicing	SMCHD1(NM_015295:exon1:c.186+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon1:c.186+1G>T;ENST00000261598:exon1:c.186+1G>T)	.	.	0.999965143305126	0.866
18	2656262	T	A	18	2656263	y	y	splicing	SMCHD1(NM_015295:exon1:c.186+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon1:c.186+2T>A;ENST00000261598:exon1:c.186+2T>A)	.	.	0.999980255680118	0.792
18	2656262	T	C	18	2656263	y	y	splicing	SMCHD1(NM_015295:exon1:c.186+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon1:c.186+2T>C;ENST00000261598:exon1:c.186+2T>C)	.	.	0.881065969350656	0.504
18	2656262	T	G	18	2656263	y	y	splicing	SMCHD1(NM_015295:exon1:c.186+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon1:c.186+2T>G;ENST00000261598:exon1:c.186+2T>G)	.	.	0.999980255680118	0.744
18	2656263	A	C	18	2656264	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.984603861815627	0.798
18	2656263	A	G	18	2656264	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.51684322189642	0.312
18	2656263	A	T	18	2656264	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.986196505670396	0.804
18	2656264	C	A	18	2656265	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.78452689183566E-4	0.112
18	2656264	C	G	18	2656265	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.03331685920931E-4	0.112
18	2656264	C	T	18	2656265	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.16408869087591E-4	0.01
18	2656265	G	A	18	2656266	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.821493564265276	0.56
18	2656265	G	C	18	2656266	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.387110593255979	0.508
18	2656265	G	T	18	2656266	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.906715619940121	0.628
18	2656266	C	A	18	2656267	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.54441181262231E-4	0.014
18	2656266	C	G	18	2656267	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	7.42049861245156E-5	0.014
18	2656266	C	T	18	2656267	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.96504241604331E-5	0.006
18	2656267	G	A	18	2656268	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.30884130591469E-5	0.0
18	2656267	G	C	18	2656268	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	7.52825886583198E-5	0.0
18	2656267	G	T	18	2656268	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.69429739751635E-4	0.002
18	2656268	A	C	18	2656269	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.13128556211048E-5	0.018
18	2656268	A	G	18	2656269	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.52596337766531E-5	0.036
18	2656268	A	T	18	2656269	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.3201352422708E-5	0.022
18	2666144	T	A	18	2666145	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.465040691206867	0.544
18	2666144	T	C	18	2666145	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	7.82791552163423E-4	0.184
18	2666144	T	G	18	2666145	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0620657047835829	0.544
18	2666145	A	C	18	2666146	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.16130696168221E-5	0.0
18	2666145	A	G	18	2666146	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.39456986672475E-5	0.006
18	2666145	A	T	18	2666146	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.93909424656203E-5	0.026
18	2666146	T	A	18	2666147	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.597723153299743	0.458
18	2666146	T	C	18	2666147	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	9.3879635667282E-4	0.062
18	2666146	T	G	18	2666147	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999607200136117	0.972
18	2666147	T	A	18	2666148	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.583366757755843	0.544
18	2666147	T	C	18	2666148	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00123835618254284	0.102
18	2666147	T	G	18	2666148	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.448375524002012	0.468
18	2666148	T	A	18	2666149	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.285190159811146	0.52
18	2666148	T	C	18	2666149	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.11960664850943E-4	0.026
18	2666148	T	G	18	2666149	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00486115234326698	0.28
18	2666149	T	A	18	2666150	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999953562033519	0.96
18	2666149	T	C	18	2666150	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.37874326732239E-4	0.07
18	2666149	T	G	18	2666150	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.140681283727385	0.354
18	2666150	G	A	18	2666151	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.998128810350339	0.7
18	2666150	G	C	18	2666151	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.68558990332749E-5	0.046
18	2666150	G	T	18	2666151	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.80438403104937E-5	0.0
18	2666151	G	A	18	2666152	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	7.76765892871301E-5	0.008
18	2666151	G	C	18	2666152	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.61964328654411E-5	0.01
18	2666151	G	T	18	2666152	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	6.05919920004836E-5	0.096
18	2666152	A	C	18	2666153	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.45100100435426E-5	0.002
18	2666152	A	G	18	2666153	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.94186380746475E-4	0.064
18	2666152	A	T	18	2666153	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00366481501708206	0.076
18	2666153	T	A	18	2666154	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.945048321262798	0.518
18	2666153	T	C	18	2666154	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.04866266407295E-4	0.032
18	2666153	T	G	18	2666154	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.995387225370605	0.652
18	2666154	A	C	18	2666155	y	y	splicing	SMCHD1(NM_015295:exon2:c.187-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.187-2A>C;ENST00000261598:exon2:c.187-2A>C)	.	.	0.999983459627143	0.934
18	2666154	A	G	18	2666155	y	y	splicing	SMCHD1(NM_015295:exon2:c.187-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.187-2A>G;ENST00000261598:exon2:c.187-2A>G)	.	.	0.999983459627143	0.932
18	2666154	A	T	18	2666155	y	y	splicing	SMCHD1(NM_015295:exon2:c.187-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.187-2A>T;ENST00000261598:exon2:c.187-2A>T)	.	.	0.999990764389106	0.936
18	2666155	G	A	18	2666156	y	y	splicing	SMCHD1(NM_015295:exon2:c.187-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.187-1G>A;ENST00000261598:exon2:c.187-1G>A)	.	.	0.999991412108771	0.934
18	2666155	G	C	18	2666156	y	y	splicing	SMCHD1(NM_015295:exon2:c.187-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.187-1G>C;ENST00000261598:exon2:c.187-1G>C)	.	.	0.999991412108771	0.934
18	2666155	G	T	18	2666156	y	y	splicing	SMCHD1(NM_015295:exon2:c.187-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.187-1G>T;ENST00000261598:exon2:c.187-1G>T)	.	.	0.999991412108771	0.934
18	2666156	A	C	18	2666157	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.A187C:p.T63P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.A187C:p.T63P;ENSG00000101596:ENST00000261598:exon2:c.A187C:p.T63P;	0.0378682475897525	0.1
18	2666156	A	G	18	2666157	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.A187G:p.T63A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.A187G:p.T63A;ENSG00000101596:ENST00000261598:exon2:c.A187G:p.T63A;	6.19780649828067E-4	0.01
18	2666156	A	T	18	2666157	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.A187T:p.T63S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.A187T:p.T63S;ENSG00000101596:ENST00000261598:exon2:c.A187T:p.T63S;	0.0200888317356886	0.126
18	2666157	C	A	18	2666158	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.C188A:p.T63K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.C188A:p.T63K;ENSG00000101596:ENST00000261598:exon2:c.C188A:p.T63K;	0.0529600054130165	0.226
18	2666157	C	G	18	2666158	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.C188G:p.T63R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.C188G:p.T63R;ENSG00000101596:ENST00000261598:exon2:c.C188G:p.T63R;	0.0295812699998715	0.16
18	2666157	C	T	18	2666158	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.C188T:p.T63I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.C188T:p.T63I;ENSG00000101596:ENST00000261598:exon2:c.C188T:p.T63I;	0.00577459017502692	0.07
18	2666229	T	A	18	2666230	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.T260A:p.F87Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.T260A:p.F87Y;ENSG00000101596:ENST00000261598:exon2:c.T260A:p.F87Y;	0.50876747494968	0.564
18	2666229	T	C	18	2666230	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.T260C:p.F87S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.T260C:p.F87S;ENSG00000101596:ENST00000261598:exon2:c.T260C:p.F87S;	0.13333207797983	0.326
18	2666229	T	G	18	2666230	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.T260G:p.F87C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.T260G:p.F87C;ENSG00000101596:ENST00000261598:exon2:c.T260G:p.F87C;	0.641161994398111	0.546
18	2666230	T	A	18	2666231	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.T261A:p.F87L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.T261A:p.F87L;ENSG00000101596:ENST00000261598:exon2:c.T261A:p.F87L;	0.00109390004964412	0.17
18	2666230	T	C	18	2666231	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon2:c.T261C:p.F87F;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.T261C:p.F87F;ENSG00000101596:ENST00000261598:exon2:c.T261C:p.F87F;	0.0174760886254191	0.074
18	2666230	T	G	18	2666231	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.T261G:p.F87L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.T261G:p.F87L;ENSG00000101596:ENST00000261598:exon2:c.T261G:p.F87L;	0.0574885924008219	0.168
18	2666231	G	A	18	2666232	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.G262A:p.D88N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.G262A:p.D88N;ENSG00000101596:ENST00000261598:exon2:c.G262A:p.D88N;	0.999912197009264	0.982
18	2666231	G	C	18	2666232	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.G262C:p.D88H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.G262C:p.D88H;ENSG00000101596:ENST00000261598:exon2:c.G262C:p.D88H;	0.999992503604916	0.956
18	2666231	G	T	18	2666232	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon2:c.G262T:p.D88Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon2:c.G262T:p.D88Y;ENSG00000101596:ENST00000261598:exon2:c.G262T:p.D88Y;	0.999958270418606	0.956
18	2666232	G	A	18	2666233	y	y	splicing	SMCHD1(NM_015295:exon2:c.262+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.262+1G>A;ENST00000261598:exon2:c.262+1G>A)	.	.	0.999989072007339	0.934
18	2666232	G	C	18	2666233	y	y	splicing	SMCHD1(NM_015295:exon2:c.262+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.262+1G>C;ENST00000261598:exon2:c.262+1G>C)	.	.	0.999980428708689	0.934
18	2666232	G	T	18	2666233	y	y	splicing	SMCHD1(NM_015295:exon2:c.262+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.262+1G>T;ENST00000261598:exon2:c.262+1G>T)	.	.	0.999989072007339	0.934
18	2666233	T	A	18	2666234	y	y	splicing	SMCHD1(NM_015295:exon2:c.262+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.262+2T>A;ENST00000261598:exon2:c.262+2T>A)	.	.	0.999988247793601	0.928
18	2666233	T	C	18	2666234	y	y	splicing	SMCHD1(NM_015295:exon2:c.262+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.262+2T>C;ENST00000261598:exon2:c.262+2T>C)	.	.	0.991245725732999	0.652
18	2666233	T	G	18	2666234	y	y	splicing	SMCHD1(NM_015295:exon2:c.262+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon2:c.262+2T>G;ENST00000261598:exon2:c.262+2T>G)	.	.	0.999988247793601	0.916
18	2666234	A	C	18	2666235	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999445663337217	0.938
18	2666234	A	G	18	2666235	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.942416948810135	0.774
18	2666234	A	T	18	2666235	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.997783396513966	0.904
18	2666235	G	A	18	2666236	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.93818081032216E-5	0.076
18	2666235	G	C	18	2666236	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.85295117592194E-5	0.018
18	2666235	G	T	18	2666236	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.12885571249299E-5	0.006
18	2666236	G	A	18	2666237	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999971312246628	0.996
18	2666236	G	C	18	2666237	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999988564788374	0.972
18	2666236	G	T	18	2666237	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.99997289121893	0.982
18	2666237	T	A	18	2666238	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.867101417845078	0.506
18	2666237	T	C	18	2666238	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.573680129589656	0.47
18	2666237	T	G	18	2666238	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.862203405843493	0.678
18	2666238	A	C	18	2666239	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.61595904372614E-5	0.006
18	2666238	A	G	18	2666239	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.33358152900813E-4	0.092
18	2666238	A	T	18	2666239	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.06731368685524E-4	0.022
18	2666239	A	C	18	2666240	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00459059046158208	0.02
18	2666239	A	G	18	2666240	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00248754855673356	0.018
18	2666239	A	T	18	2666240	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00664038963414256	0.018
18	2666857	T	A	18	2666858	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.518652165535017	0.566
18	2666857	T	C	18	2666858	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0213730894079052	0.192
18	2666857	T	G	18	2666858	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.757441903548383	0.574
18	2666858	C	A	18	2666859	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00559221711047212	0.062
18	2666858	C	G	18	2666859	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00146125649611131	0.05
18	2666858	C	T	18	2666859	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.46958859337768E-5	0.0
18	2666859	T	A	18	2666860	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0594387015194192	0.44
18	2666859	T	C	18	2666860	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00241785556979604	0.144
18	2666859	T	G	18	2666860	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0565426854843326	0.45
18	2666860	T	A	18	2666861	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.99994506877742	0.976
18	2666860	T	C	18	2666861	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.19138058757881E-4	0.126
18	2666860	T	G	18	2666861	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.015654102833427	0.254
18	2666861	G	A	18	2666862	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.04800310701159E-4	0.09
18	2666861	G	C	18	2666862	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.77997209294309E-5	0.0
18	2666861	G	T	18	2666862	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.92063042540432E-5	0.0
18	2666862	A	C	18	2666863	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.41087785565784E-4	0.006
18	2666862	A	G	18	2666863	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.04665339987785E-4	0.0
18	2666862	A	T	18	2666863	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.9989891130861E-4	0.008
18	2666863	T	A	18	2666864	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.865367369184071	0.478
18	2666863	T	C	18	2666864	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00239715707853369	0.088
18	2666863	T	G	18	2666864	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999962960481538	0.97
18	2666864	T	A	18	2666865	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.951952693268237	0.636
18	2666864	T	C	18	2666865	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.109565508606383	0.206
18	2666864	T	G	18	2666865	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.930791015237471	0.59
18	2666865	A	C	18	2666866	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.63040055804276E-5	0.004
18	2666865	A	G	18	2666866	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	6.53452834898144E-4	0.096
18	2666865	A	T	18	2666866	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.00003356410342E-4	0.014
18	2666866	C	A	18	2666867	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.989859649755148	0.894
18	2666866	C	G	18	2666867	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999319572234792	0.97
18	2666866	C	T	18	2666867	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0281620444552942	0.152
18	2666867	A	C	18	2666868	y	y	splicing	SMCHD1(NM_015295:exon3:c.263-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.263-2A>C;ENST00000261598:exon3:c.263-2A>C)	.	.	0.999988247793601	0.93
18	2666867	A	G	18	2666868	y	y	splicing	SMCHD1(NM_015295:exon3:c.263-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.263-2A>G;ENST00000261598:exon3:c.263-2A>G)	.	.	0.999988247793601	0.93
18	2666867	A	T	18	2666868	y	y	splicing	SMCHD1(NM_015295:exon3:c.263-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.263-2A>T;ENST00000261598:exon3:c.263-2A>T)	.	.	0.999988247793601	0.93
18	2666868	G	A	18	2666869	y	y	splicing	SMCHD1(NM_015295:exon3:c.263-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.263-1G>A;ENST00000261598:exon3:c.263-1G>A)	.	.	0.999989072007339	0.934
18	2666868	G	C	18	2666869	y	y	splicing	SMCHD1(NM_015295:exon3:c.263-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.263-1G>C;ENST00000261598:exon3:c.263-1G>C)	.	.	0.999989072007339	0.934
18	2666868	G	T	18	2666869	y	y	splicing	SMCHD1(NM_015295:exon3:c.263-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.263-1G>T;ENST00000261598:exon3:c.263-1G>T)	.	.	0.999989072007339	0.934
18	2666869	A	C	18	2666870	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.A263C:p.D88A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.A263C:p.D88A;ENSG00000101596:ENST00000261598:exon3:c.A263C:p.D88A;	0.0182476583084319	0.216
18	2666869	A	G	18	2666870	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.A263G:p.D88G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.A263G:p.D88G;ENSG00000101596:ENST00000261598:exon3:c.A263G:p.D88G;	6.24872253425509E-4	0.012
18	2666869	A	T	18	2666870	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.A263T:p.D88V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.A263T:p.D88V;ENSG00000101596:ENST00000261598:exon3:c.A263T:p.D88V;	0.340270215989172	0.336
18	2666870	T	A	18	2666871	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.T264A:p.D88E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.T264A:p.D88E;ENSG00000101596:ENST00000261598:exon3:c.T264A:p.D88E;	0.014709330736041	0.142
18	2666870	T	C	18	2666871	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon3:c.T264C:p.D88D;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.T264C:p.D88D;ENSG00000101596:ENST00000261598:exon3:c.T264C:p.D88D;	0.0140686965141907	0.232
18	2666870	T	G	18	2666871	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.T264G:p.D88E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.T264G:p.D88E;ENSG00000101596:ENST00000261598:exon3:c.T264G:p.D88E;	0.00482242688156601	0.16
18	2667028	T	A	18	2667029	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon3:c.T422A:p.L141X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon3:c.T422A:p.L141X;ENSG00000101596:ENST00000261598:exon3:c.T422A:p.L141X;	0.777161467830571	0.702
18	2667028	T	C	18	2667029	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.T422C:p.L141S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.T422C:p.L141S;ENSG00000101596:ENST00000261598:exon3:c.T422C:p.L141S;	0.711782869828115	0.636
18	2667028	T	G	18	2667029	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.T422G:p.L141W;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.T422G:p.L141W;ENSG00000101596:ENST00000261598:exon3:c.T422G:p.L141W;	0.734807990818445	0.564
18	2667029	G	A	18	2667030	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon3:c.G423A:p.L141L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.G423A:p.L141L;ENSG00000101596:ENST00000261598:exon3:c.G423A:p.L141L;	4.95761386491721E-4	0.064
18	2667029	G	C	18	2667030	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.G423C:p.L141F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.G423C:p.L141F;ENSG00000101596:ENST00000261598:exon3:c.G423C:p.L141F;	0.0026903602218358	0.078
18	2667029	G	T	18	2667030	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.G423T:p.L141F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.G423T:p.L141F;ENSG00000101596:ENST00000261598:exon3:c.G423T:p.L141F;	0.0120664624260524	0.106
18	2667030	C	A	18	2667031	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.C424A:p.P142T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.C424A:p.P142T;ENSG00000101596:ENST00000261598:exon3:c.C424A:p.P142T;	0.969379328234118	0.788
18	2667030	C	G	18	2667031	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.C424G:p.P142A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.C424G:p.P142A;ENSG00000101596:ENST00000261598:exon3:c.C424G:p.P142A;	0.847868097344099	0.5
18	2667030	C	T	18	2667031	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon3:c.C424T:p.P142S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon3:c.C424T:p.P142S;ENSG00000101596:ENST00000261598:exon3:c.C424T:p.P142S;	0.983847116280096	0.81
18	2667031	G	A	18	2667032	y	y	splicing	SMCHD1(NM_015295:exon3:c.424+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.424+1G>A;ENST00000261598:exon3:c.424+1G>A)	.	.	0.999989072007339	0.934
18	2667031	G	C	18	2667032	y	y	splicing	SMCHD1(NM_015295:exon3:c.424+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.424+1G>C;ENST00000261598:exon3:c.424+1G>C)	.	.	0.999989072007339	0.934
18	2667031	G	T	18	2667032	y	y	splicing	SMCHD1(NM_015295:exon3:c.424+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.424+1G>T;ENST00000261598:exon3:c.424+1G>T)	.	.	0.999989072007339	0.934
18	2667032	T	A	18	2667033	y	y	splicing	SMCHD1(NM_015295:exon3:c.424+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.424+2T>A;ENST00000261598:exon3:c.424+2T>A)	.	.	0.999988247793601	0.932
18	2667032	T	C	18	2667033	y	y	splicing	SMCHD1(NM_015295:exon3:c.424+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.424+2T>C;ENST00000261598:exon3:c.424+2T>C)	.	.	0.994669226766359	0.688
18	2667032	T	G	18	2667033	y	y	splicing	SMCHD1(NM_015295:exon3:c.424+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon3:c.424+2T>G;ENST00000261598:exon3:c.424+2T>G)	.	.	0.999988247793601	0.932
18	2667033	A	C	18	2667034	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999803289475604	0.964
18	2667033	A	G	18	2667034	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.980052474565203	0.616
18	2667033	A	T	18	2667034	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999870874643392	0.994
18	2667034	A	C	18	2667035	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999749291909142	0.938
18	2667034	A	G	18	2667035	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999437647446818	0.962
18	2667034	A	T	18	2667035	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.99902044555111	0.934
18	2667035	G	A	18	2667036	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999970203438571	0.996
18	2667035	G	C	18	2667036	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999973049774624	0.984
18	2667035	G	T	18	2667036	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999962434022726	0.974
18	2667036	T	A	18	2667037	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.993919307780948	0.82
18	2667036	T	C	18	2667037	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.995700494306504	0.952
18	2667036	T	G	18	2667037	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.994842901598765	0.906
18	2667037	A	C	18	2667038	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00107805877549017	0.008
18	2667037	A	G	18	2667038	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00107805877549017	0.002
18	2667037	A	T	18	2667038	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0013078655870363	0.002
18	2667038	T	A	18	2667039	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.05968704905275E-4	0.0
18	2667038	T	C	18	2667039	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.64833034090122E-5	0.004
18	2667038	T	G	18	2667039	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	7.83299155123245E-5	0.004
18	2673268	G	A	18	2673269	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.11012876914569E-4	0.0
18	2673268	G	C	18	2673269	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	9.09740216807318E-6	0.0
18	2673268	G	T	18	2673269	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.65047354028333E-5	0.0
18	2673269	A	C	18	2673270	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	5.67689713711868E-5	0.004
18	2673269	A	G	18	2673270	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.26825873979241E-5	0.002
18	2673269	A	T	18	2673270	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	9.97356515897823E-5	0.184
18	2673270	T	A	18	2673271	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.066439983280357	0.286
18	2673270	T	C	18	2673271	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.63250801146054E-4	0.028
18	2673270	T	G	18	2673271	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.998040101622681	0.938
18	2673271	C	A	18	2673272	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.69506561253891E-4	0.014
18	2673271	C	G	18	2673272	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.01047636961986E-4	0.034
18	2673271	C	T	18	2673272	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.48453886750501E-5	0.002
18	2673272	T	A	18	2673273	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0290320447789858	0.198
18	2673272	T	C	18	2673273	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.77313136606996E-5	0.012
18	2673272	T	G	18	2673273	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0119794943948486	0.162
18	2673273	C	A	18	2673274	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00189308302682495	0.036
18	2673273	C	G	18	2673274	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.3199128866837E-4	0.044
18	2673273	C	T	18	2673274	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.46516986683493E-5	0.008
18	2673274	T	A	18	2673275	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.468922007556793	0.394
18	2673274	T	C	18	2673275	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.93691228147501E-4	0.032
18	2673274	T	G	18	2673275	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.378964970325216	0.39
18	2673275	T	A	18	2673276	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999875772551508	0.886
18	2673275	T	C	18	2673276	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0110375677638366	0.13
18	2673275	T	G	18	2673276	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.706330630256739	0.422
18	2673276	G	A	18	2673277	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.42376614359201E-5	0.0
18	2673276	G	C	18	2673277	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.82928773085167E-6	0.004
18	2673276	G	T	18	2673277	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.28475376997949E-5	0.0
18	2673277	C	A	18	2673278	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.808034222296396	0.674
18	2673277	C	G	18	2673278	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999495768464299	0.888
18	2673277	C	T	18	2673278	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.84444687605431E-4	0.052
18	2673278	A	C	18	2673279	y	y	splicing	SMCHD1(NM_015295:exon4:c.425-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.425-2A>C;ENST00000261598:exon4:c.425-2A>C)	.	.	0.999978952611685	0.928
18	2673278	A	G	18	2673279	y	y	splicing	SMCHD1(NM_015295:exon4:c.425-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.425-2A>G;ENST00000261598:exon4:c.425-2A>G)	.	.	0.999978952611685	0.928
18	2673278	A	T	18	2673279	y	y	splicing	SMCHD1(NM_015295:exon4:c.425-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.425-2A>T;ENST00000261598:exon4:c.425-2A>T)	.	.	0.999988247793601	0.926
18	2673279	G	A	18	2673280	y	y	splicing	SMCHD1(NM_015295:exon4:c.425-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.425-1G>A;ENST00000261598:exon4:c.425-1G>A)	.	.	0.999985532734767	0.934
18	2673279	G	C	18	2673280	y	y	splicing	SMCHD1(NM_015295:exon4:c.425-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.425-1G>C;ENST00000261598:exon4:c.425-1G>C)	.	.	0.999985532734767	0.934
18	2673279	G	T	18	2673280	y	y	splicing	SMCHD1(NM_015295:exon4:c.425-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.425-1G>T;ENST00000261598:exon4:c.425-1G>T)	.	.	0.999985532734767	0.934
18	2673280	C	A	18	2673281	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.C425A:p.P142Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.C425A:p.P142Q;ENSG00000101596:ENST00000261598:exon4:c.C425A:p.P142Q;	0.959487809518256	0.782
18	2673280	C	G	18	2673281	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.C425G:p.P142R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.C425G:p.P142R;ENSG00000101596:ENST00000261598:exon4:c.C425G:p.P142R;	0.956645879049571	0.666
18	2673280	C	T	18	2673281	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.C425T:p.P142L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.C425T:p.P142L;ENSG00000101596:ENST00000261598:exon4:c.C425T:p.P142L;	0.993519211648483	0.918
18	2673281	A	C	18	2673282	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon4:c.A426C:p.P142P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.A426C:p.P142P;ENSG00000101596:ENST00000261598:exon4:c.A426C:p.P142P;	0.00124298255539063	0.024
18	2673281	A	G	18	2673282	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon4:c.A426G:p.P142P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.A426G:p.P142P;ENSG00000101596:ENST00000261598:exon4:c.A426G:p.P142P;	5.18230432165338E-4	0.014
18	2673281	A	T	18	2673282	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon4:c.A426T:p.P142P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.A426T:p.P142P;ENSG00000101596:ENST00000261598:exon4:c.A426T:p.P142P;	3.03860614899857E-4	0.002
18	2673360	T	A	18	2673361	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.T505A:p.L169M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.T505A:p.L169M;ENSG00000101596:ENST00000261598:exon4:c.T505A:p.L169M;	1.52798877164625E-4	0.234
18	2673360	T	C	18	2673361	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon4:c.T505C:p.L169L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.T505C:p.L169L;ENSG00000101596:ENST00000261598:exon4:c.T505C:p.L169L;	6.82013719133497E-5	0.0
18	2673360	T	G	18	2673361	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.T505G:p.L169V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.T505G:p.L169V;ENSG00000101596:ENST00000261598:exon4:c.T505G:p.L169V;	7.7787203306817E-4	0.224
18	2673361	T	A	18	2673362	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon4:c.T506A:p.L169X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon4:c.T506A:p.L169X;ENSG00000101596:ENST00000261598:exon4:c.T506A:p.L169X;	0.658719157710255	0.702
18	2673361	T	C	18	2673362	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.T506C:p.L169S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.T506C:p.L169S;ENSG00000101596:ENST00000261598:exon4:c.T506C:p.L169S;	0.784289179241787	0.844
18	2673361	T	G	18	2673362	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.T506G:p.L169W;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.T506G:p.L169W;ENSG00000101596:ENST00000261598:exon4:c.T506G:p.L169W;	0.843411018342093	0.74
18	2673362	G	A	18	2673363	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon4:c.G507A:p.L169L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.G507A:p.L169L;ENSG00000101596:ENST00000261598:exon4:c.G507A:p.L169L;	0.999945705047414	1.0
18	2673362	G	C	18	2673363	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.G507C:p.L169F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.G507C:p.L169F;ENSG00000101596:ENST00000261598:exon4:c.G507C:p.L169F;	0.999997247587064	1.0
18	2673362	G	T	18	2673363	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon4:c.G507T:p.L169F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon4:c.G507T:p.L169F;ENSG00000101596:ENST00000261598:exon4:c.G507T:p.L169F;	0.999975373910982	1.0
18	2673363	G	A	18	2673364	y	y	splicing	SMCHD1(NM_015295:exon4:c.507+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.507+1G>A;ENST00000261598:exon4:c.507+1G>A)	.	.	0.999985532734767	0.936
18	2673363	G	C	18	2673364	y	y	splicing	SMCHD1(NM_015295:exon4:c.507+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.507+1G>C;ENST00000261598:exon4:c.507+1G>C)	.	.	0.999985532734767	0.936
18	2673363	G	T	18	2673364	y	y	splicing	SMCHD1(NM_015295:exon4:c.507+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.507+1G>T;ENST00000261598:exon4:c.507+1G>T)	.	.	0.999985532734767	0.936
18	2673364	T	A	18	2673365	y	y	splicing	SMCHD1(NM_015295:exon4:c.507+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.507+2T>A;ENST00000261598:exon4:c.507+2T>A)	.	.	0.999988247793601	0.928
18	2673364	T	C	18	2673365	y	y	splicing	SMCHD1(NM_015295:exon4:c.507+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.507+2T>C;ENST00000261598:exon4:c.507+2T>C)	.	.	0.99991522016916	0.876
18	2673364	T	G	18	2673365	y	y	splicing	SMCHD1(NM_015295:exon4:c.507+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon4:c.507+2T>G;ENST00000261598:exon4:c.507+2T>G)	.	.	0.999988247793601	0.928
18	2673365	A	C	18	2673366	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999827343775616	0.948
18	2673365	A	G	18	2673366	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.872716884524156	0.568
18	2673365	A	T	18	2673366	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999670693719459	0.984
18	2673366	A	C	18	2673367	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.987899981911119	0.826
18	2673366	A	G	18	2673367	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.994788425796184	0.928
18	2673366	A	T	18	2673367	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.998705370243455	0.888
18	2673367	G	A	18	2673368	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999875361777179	0.99
18	2673367	G	C	18	2673368	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999264468579459	0.948
18	2673367	G	T	18	2673368	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999685691330307	0.912
18	2673368	G	A	18	2673369	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	5.72721736894998E-5	0.0
18	2673368	G	C	18	2673369	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	5.19196868806201E-5	0.0
18	2673368	G	T	18	2673369	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.30403856567795E-5	0.0
18	2673369	A	C	18	2673370	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.455930068921E-5	0.0
18	2673369	A	G	18	2673370	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.83451585927357E-5	0.0
18	2673369	A	T	18	2673370	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.13049006409861E-5	0.0
18	2673370	A	C	18	2673371	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.73892773368477E-4	0.002
18	2673370	A	G	18	2673371	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.77978745885032E-4	0.002
18	2673370	A	T	18	2673371	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.77978745885032E-4	0.002
18	2674002	T	A	18	2674003	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.175265131998294	0.436
18	2674002	T	C	18	2674003	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.12824180878912E-4	0.052
18	2674002	T	G	18	2674003	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0229485695812337	0.436
18	2674003	T	A	18	2674004	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.555978646478869	0.462
18	2674003	T	C	18	2674004	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0590036862955756	0.234
18	2674003	T	G	18	2674004	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.32752785986684	0.47
18	2674004	T	A	18	2674005	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999963825386532	0.962
18	2674004	T	C	18	2674005	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.891275307205E-4	0.044
18	2674004	T	G	18	2674005	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.190621811722629	0.418
18	2674005	G	A	18	2674006	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.34762268329574E-5	0.002
18	2674005	G	C	18	2674006	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.0046384885684E-5	0.0
18	2674005	G	T	18	2674006	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.08968436393553E-5	0.0
18	2674006	T	A	18	2674007	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.14894682754924	0.344
18	2674006	T	C	18	2674007	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.25738194712335E-5	0.016
18	2674006	T	G	18	2674007	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00131439636336037	0.2
18	2674007	T	A	18	2674008	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.649229526397299	0.342
18	2674007	T	C	18	2674008	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.99075494524254E-4	0.03
18	2674007	T	G	18	2674008	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0945505985640526	0.29
18	2674008	T	A	18	2674009	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.774501681808311	0.522
18	2674008	T	C	18	2674009	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	6.06150211225727E-5	0.004
18	2674008	T	G	18	2674009	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.725631695526456	0.536
18	2674009	C	A	18	2674010	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.03675914528792E-4	0.076
18	2674009	C	G	18	2674010	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.95895214084312E-4	0.074
18	2674009	C	T	18	2674010	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	6.25682479538314E-5	0.002
18	2674010	A	C	18	2674011	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	9.20900812198548E-5	0.008
18	2674010	A	G	18	2674011	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.35388269427165E-5	0.008
18	2674010	A	T	18	2674011	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	5.24572377635279E-5	0.01
18	2674011	T	A	18	2674012	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00253700027390149	0.148
18	2674011	T	C	18	2674012	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.02249972428598E-4	0.008
18	2674011	T	G	18	2674012	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.998480897397887	0.7
18	2674012	A	C	18	2674013	y	y	splicing	SMCHD1(NM_015295:exon5:c.508-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.508-2A>C;ENST00000261598:exon5:c.508-2A>C)	.	.	0.999989917668626	0.924
18	2674012	A	G	18	2674013	y	y	splicing	SMCHD1(NM_015295:exon5:c.508-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.508-2A>G;ENST00000261598:exon5:c.508-2A>G)	.	.	0.999989917668626	0.924
18	2674012	A	T	18	2674013	y	y	splicing	SMCHD1(NM_015295:exon5:c.508-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.508-2A>T;ENST00000261598:exon5:c.508-2A>T)	.	.	0.999989917668626	0.924
18	2674013	G	A	18	2674014	y	y	splicing	SMCHD1(NM_015295:exon5:c.508-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.508-1G>A;ENST00000261598:exon5:c.508-1G>A)	.	.	0.999986675681007	0.932
18	2674013	G	C	18	2674014	y	y	splicing	SMCHD1(NM_015295:exon5:c.508-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.508-1G>C;ENST00000261598:exon5:c.508-1G>C)	.	.	0.999986675681007	0.932
18	2674013	G	T	18	2674014	y	y	splicing	SMCHD1(NM_015295:exon5:c.508-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.508-1G>T;ENST00000261598:exon5:c.508-1G>T)	.	.	0.999986675681007	0.932
18	2674014	C	A	18	2674015	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.C508A:p.L170I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.C508A:p.L170I;ENSG00000101596:ENST00000261598:exon5:c.C508A:p.L170I;	0.00226642155036164	0.02
18	2674014	C	G	18	2674015	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.C508G:p.L170V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.C508G:p.L170V;ENSG00000101596:ENST00000261598:exon5:c.C508G:p.L170V;	0.00104465092870943	0.096
18	2674014	C	T	18	2674015	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.C508T:p.L170F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.C508T:p.L170F;ENSG00000101596:ENST00000261598:exon5:c.C508T:p.L170F;	0.0501990062504224	0.308
18	2674015	T	A	18	2674016	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.T509A:p.L170H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.T509A:p.L170H;ENSG00000101596:ENST00000261598:exon5:c.T509A:p.L170H;	8.80926166734057E-4	0.232
18	2674015	T	C	18	2674016	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.T509C:p.L170P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.T509C:p.L170P;ENSG00000101596:ENST00000261598:exon5:c.T509C:p.L170P;	1.1239772599675E-4	0.072
18	2674015	T	G	18	2674016	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.T509G:p.L170R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.T509G:p.L170R;ENSG00000101596:ENST00000261598:exon5:c.T509G:p.L170R;	4.30219260279746E-5	0.1
18	2674142	A	C	18	2674143	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.A636C:p.E212D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.A636C:p.E212D;ENSG00000101596:ENST00000261598:exon5:c.A636C:p.E212D;	0.050185617747788	0.38
18	2674142	A	G	18	2674143	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon5:c.A636G:p.E212E;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.A636G:p.E212E;ENSG00000101596:ENST00000261598:exon5:c.A636G:p.E212E;	0.00726565887319813	0.178
18	2674142	A	T	18	2674143	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.A636T:p.E212D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.A636T:p.E212D;ENSG00000101596:ENST00000261598:exon5:c.A636T:p.E212D;	0.979733781582627	0.732
18	2674143	A	C	18	2674144	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.A637C:p.S213R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.A637C:p.S213R;ENSG00000101596:ENST00000261598:exon5:c.A637C:p.S213R;	0.998591987262377	0.95
18	2674143	A	G	18	2674144	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.A637G:p.S213G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.A637G:p.S213G;ENSG00000101596:ENST00000261598:exon5:c.A637G:p.S213G;	0.999417914413059	0.968
18	2674143	A	T	18	2674144	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.A637T:p.S213C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.A637T:p.S213C;ENSG00000101596:ENST00000261598:exon5:c.A637T:p.S213C;	0.999691592070596	0.992
18	2674144	G	A	18	2674145	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.G638A:p.S213N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.G638A:p.S213N;ENSG00000101596:ENST00000261598:exon5:c.G638A:p.S213N;	0.999986654805691	0.986
18	2674144	G	C	18	2674145	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.G638C:p.S213T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.G638C:p.S213T;ENSG00000101596:ENST00000261598:exon5:c.G638C:p.S213T;	0.999989098371423	0.978
18	2674144	G	T	18	2674145	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon5:c.G638T:p.S213I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon5:c.G638T:p.S213I;ENSG00000101596:ENST00000261598:exon5:c.G638T:p.S213I;	0.999989679766793	0.922
18	2674145	G	A	18	2674146	y	y	splicing	SMCHD1(NM_015295:exon5:c.638+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.638+1G>A;ENST00000261598:exon5:c.638+1G>A)	.	.	0.999938990645747	0.944
18	2674145	G	C	18	2674146	y	y	splicing	SMCHD1(NM_015295:exon5:c.638+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.638+1G>C;ENST00000261598:exon5:c.638+1G>C)	.	.	0.999938990645747	0.938
18	2674145	G	T	18	2674146	y	y	splicing	SMCHD1(NM_015295:exon5:c.638+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.638+1G>T;ENST00000261598:exon5:c.638+1G>T)	.	.	0.999938990645747	0.93
18	2674146	T	A	18	2674147	y	y	splicing	SMCHD1(NM_015295:exon5:c.638+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.638+2T>A;ENST00000261598:exon5:c.638+2T>A)	.	.	0.99997739437695	0.918
18	2674146	T	C	18	2674147	y	y	splicing	SMCHD1(NM_015295:exon5:c.638+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.638+2T>C;ENST00000261598:exon5:c.638+2T>C)	.	.	0.999827228798875	0.868
18	2674146	T	G	18	2674147	y	y	splicing	SMCHD1(NM_015295:exon5:c.638+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon5:c.638+2T>G;ENST00000261598:exon5:c.638+2T>G)	.	.	0.999982151912279	0.892
18	2674147	T	A	18	2674148	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.59612024209527E-4	0.222
18	2674147	T	C	18	2674148	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.96377699671758E-4	0.022
18	2674147	T	G	18	2674148	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.85404168320818E-4	0.226
18	2674148	A	C	18	2674149	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.51848522175746	0.432
18	2674148	A	G	18	2674149	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.503448538334583	0.396
18	2674148	A	T	18	2674149	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.294739586073706	0.386
18	2674149	G	A	18	2674150	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.996876961499642	0.87
18	2674149	G	C	18	2674150	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999985132748427	0.956
18	2674149	G	T	18	2674150	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999965551772197	0.952
18	2674150	A	C	18	2674151	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	6.99221436548191E-4	0.11
18	2674150	A	G	18	2674151	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.57362292215377E-4	0.006
18	2674150	A	T	18	2674151	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.79069255496085E-4	0.044
18	2674151	A	C	18	2674152	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.28181895387254E-5	0.0
18	2674151	A	G	18	2674152	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.41766551227501E-4	0.064
18	2674151	A	T	18	2674152	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.16672102243677E-4	0.032
18	2674152	A	C	18	2674153	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	4.75612123584967E-4	0.014
18	2674152	A	G	18	2674153	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	9.44318322924522E-4	0.024
18	2674152	A	T	18	2674153	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	9.49255885995018E-4	0.024
18	2688380	G	A	18	2688382	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	8.95024463963854E-5	0.002
18	2688380	G	C	18	2688382	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.71635075250392E-5	0.002
18	2688380	G	T	18	2688382	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.97285447385167E-5	0.006
18	2688381	T	A	18	2688383	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.538953490747735	0.54
18	2688381	T	C	18	2688383	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0190228819895258	0.316
18	2688381	T	G	18	2688383	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.311533314666791	0.484
18	2688382	T	A	18	2688384	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.242423142007913	0.46
18	2688382	T	C	18	2688384	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00115456628128193	0.084
18	2688382	T	G	18	2688384	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.323201387003385	0.466
18	2688383	T	A	18	2688385	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.261881671697019	0.46
18	2688383	T	C	18	2688385	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	5.26306107898596E-4	0.064
18	2688383	T	G	18	2688385	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.06150299605546	0.428
18	2688384	T	A	18	2688386	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0661876573516907	0.376
18	2688384	T	C	18	2688386	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.36863984573096E-4	0.01
18	2688384	T	G	18	2688386	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0554291777541598	0.378
18	2688385	A	C	18	2688387	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.73585780968525E-5	0.0
18	2688385	A	G	18	2688387	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.45732980033676E-5	0.0
18	2688385	A	T	18	2688387	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.08332002171532E-5	0.004
18	2688386	T	A	18	2688388	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00936918492869535	0.196
18	2688386	T	C	18	2688388	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.88849595263126E-4	0.012
18	2688386	T	G	18	2688388	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.998302150004725	0.822
18	2688387	T	A	18	2688389	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.677783710700178	0.486
18	2688387	T	C	18	2688389	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00413679925647271	0.282
18	2688387	T	G	18	2688389	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.861234501536901	0.528
18	2688388	T	A	18	2688390	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.58103231632402E-4	0.032
18	2688388	T	C	18	2688390	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.23190314600491E-5	0.002
18	2688388	T	G	18	2688390	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.00107570039679421	0.038
18	2688389	T	A	18	2688391	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.104751202586624	0.386
18	2688389	T	C	18	2688391	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	1.95750612526628E-5	0.054
18	2688389	T	G	18	2688391	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.998948864549745	0.746
18	2688390	A	C	18	2688392	y	y	splicing	SMCHD1(NM_015295:exon6:c.639-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.639-2A>C;ENST00000261598:exon6:c.639-2A>C)	.	.	0.999972155025474	0.862
18	2688390	A	G	18	2688392	y	y	splicing	SMCHD1(NM_015295:exon6:c.639-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.639-2A>G;ENST00000261598:exon6:c.639-2A>G)	.	.	0.999972155025474	0.868
18	2688390	A	T	18	2688392	y	y	splicing	SMCHD1(NM_015295:exon6:c.639-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.639-2A>T;ENST00000261598:exon6:c.639-2A>T)	.	.	0.999982151912279	0.906
18	2688391	G	A	18	2688393	y	y	splicing	SMCHD1(NM_015295:exon6:c.639-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.639-1G>A;ENST00000261598:exon6:c.639-1G>A)	.	.	0.999952286258862	0.87
18	2688391	G	C	18	2688393	y	y	splicing	SMCHD1(NM_015295:exon6:c.639-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.639-1G>C;ENST00000261598:exon6:c.639-1G>C)	.	.	0.999942513266374	0.852
18	2688391	G	T	18	2688393	y	y	splicing	SMCHD1(NM_015295:exon6:c.639-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.639-1G>T;ENST00000261598:exon6:c.639-1G>T)	.	.	0.99995299556238	0.866
18	2688392	T	A	18	2688394	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.T639A:p.S213R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.T639A:p.S213R;ENSG00000101596:ENST00000261598:exon6:c.T639A:p.S213R;	0.531988107396837	0.584
18	2688392	T	C	18	2688394	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon6:c.T639C:p.S213S;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.T639C:p.S213S;ENSG00000101596:ENST00000261598:exon6:c.T639C:p.S213S;	0.00316918695121168	0.028
18	2688392	T	G	18	2688394	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.T639G:p.S213R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.T639G:p.S213R;ENSG00000101596:ENST00000261598:exon6:c.T639G:p.S213R;	0.587270099458252	0.478
18	2688393	G	A	18	2688395	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.G640A:p.D214N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.G640A:p.D214N;ENSG00000101596:ENST00000261598:exon6:c.G640A:p.D214N;	0.765985384722003	0.542
18	2688393	G	C	18	2688395	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.G640C:p.D214H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.G640C:p.D214H;ENSG00000101596:ENST00000261598:exon6:c.G640C:p.D214H;	0.974725054123224	0.736
18	2688393	G	T	18	2688395	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.G640T:p.D214Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.G640T:p.D214Y;ENSG00000101596:ENST00000261598:exon6:c.G640T:p.D214Y;	0.96981032297638	0.694
18	2688504	A	C	18	2688506	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon6:c.A751C:p.R251R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.A751C:p.R251R;ENSG00000101596:ENST00000261598:exon6:c.A751C:p.R251R;	0.0875245715986587	0.434
18	2688504	A	G	18	2688506	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.A751G:p.R251G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.A751G:p.R251G;ENSG00000101596:ENST00000261598:exon6:c.A751G:p.R251G;	0.191282723168373	0.47
18	2688504	A	T	18	2688506	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon6:c.A751T:p.R251X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon6:c.A751T:p.R251X;ENSG00000101596:ENST00000261598:exon6:c.A751T:p.R251X;	0.935766064749552	0.576
18	2688505	G	A	18	2688507	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.G752A:p.R251K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.G752A:p.R251K;ENSG00000101596:ENST00000261598:exon6:c.G752A:p.R251K;	0.938474018728453	0.632
18	2688505	G	C	18	2688507	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.G752C:p.R251T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.G752C:p.R251T;ENSG00000101596:ENST00000261598:exon6:c.G752C:p.R251T;	0.985386505369265	0.876
18	2688505	G	T	18	2688507	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.G752T:p.R251I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.G752T:p.R251I;ENSG00000101596:ENST00000261598:exon6:c.G752T:p.R251I;	0.991351447955545	0.882
18	2688506	A	C	18	2688508	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.A753C:p.R251S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.A753C:p.R251S;ENSG00000101596:ENST00000261598:exon6:c.A753C:p.R251S;	0.00395441452994959	0.118
18	2688506	A	G	18	2688508	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon6:c.A753G:p.R251R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.A753G:p.R251R;ENSG00000101596:ENST00000261598:exon6:c.A753G:p.R251R;	9.62060639349327E-5	0.048
18	2688506	A	T	18	2688508	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon6:c.A753T:p.R251S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon6:c.A753T:p.R251S;ENSG00000101596:ENST00000261598:exon6:c.A753T:p.R251S;	0.0498403053788374	0.15
18	2688507	G	A	18	2688509	y	y	splicing	SMCHD1(NM_015295:exon6:c.753+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.753+1G>A;ENST00000261598:exon6:c.753+1G>A)	.	.	0.999981760802075	0.94
18	2688507	G	C	18	2688509	y	y	splicing	SMCHD1(NM_015295:exon6:c.753+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.753+1G>C;ENST00000261598:exon6:c.753+1G>C)	.	.	0.999981760802075	0.944
18	2688507	G	T	18	2688509	y	y	splicing	SMCHD1(NM_015295:exon6:c.753+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.753+1G>T;ENST00000261598:exon6:c.753+1G>T)	.	.	0.999981760802075	0.944
18	2688508	T	A	18	2688510	y	y	splicing	SMCHD1(NM_015295:exon6:c.753+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.753+2T>A;ENST00000261598:exon6:c.753+2T>A)	.	.	0.999986903042585	0.928
18	2688508	T	C	18	2688510	y	y	splicing	SMCHD1(NM_015295:exon6:c.753+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.753+2T>C;ENST00000261598:exon6:c.753+2T>C)	.	.	0.995346728258143	0.658
18	2688508	T	G	18	2688510	y	y	splicing	SMCHD1(NM_015295:exon6:c.753+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon6:c.753+2T>G;ENST00000261598:exon6:c.753+2T>G)	.	.	0.999986903042585	0.926
18	2688509	A	C	18	2688511	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.998731067029961	0.872
18	2688509	A	G	18	2688511	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.0166202341249564	0.192
18	2688509	A	T	18	2688511	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.998479846851604	0.914
18	2688510	A	C	18	2688512	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.866132200733777	0.604
18	2688510	A	G	18	2688512	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.975967923041831	0.866
18	2688510	A	T	18	2688512	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.982157700493404	0.848
18	2688511	G	A	18	2688513	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999948022412812	0.972
18	2688511	G	C	18	2688513	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.99998434672469	0.986
18	2688511	G	T	18	2688513	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.999970633514732	0.974
18	2688512	T	A	18	2688514	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.936265633909563	0.566
18	2688512	T	C	18	2688514	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.791446098548421	0.592
18	2688512	T	G	18	2688514	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	0.991895153963923	0.728
18	2688513	A	C	18	2688515	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	5.93592994461746E-6	0.0
18	2688513	A	G	18	2688515	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	5.93592994461746E-6	0.0
18	2688513	A	T	18	2688515	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	9.16895845443693E-6	0.002
18	2688514	A	C	18	2688516	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.39983342653782E-5	0.0
18	2688514	A	G	18	2688516	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	2.02586552685029E-5	0.0
18	2688514	A	T	18	2688516	y	y	intronic	SMCHD1	.	.	intronic	ENSG00000101596	.	.	3.16095662120647E-5	0.006
18	2688614	A	C	18	2688616	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	2.47048155026158E-5	0.002
18	2688614	A	G	18	2688616	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	9.38561707386008E-5	0.038
18	2688614	A	T	18	2688616	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	2.65711975013021E-5	0.034
18	2688615	A	C	18	2688617	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	1.53576968013836E-5	0.004
18	2688615	A	G	18	2688617	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.990772596130064	0.932
18	2688615	A	T	18	2688617	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	3.45441733202138E-5	0.16
18	2688616	T	A	18	2688618	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.18051676060922	0.486
18	2688616	T	C	18	2688618	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	1.98333640938134E-4	0.064
18	2688616	T	G	18	2688618	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999751674231956	0.946
18	2688617	A	C	18	2688619	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	3.80146314703169E-5	0.018
18	2688617	A	G	18	2688619	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	7.2674304922895E-5	0.068
18	2688617	A	T	18	2688619	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	3.80146314703169E-5	0.038
18	2688618	T	A	18	2688620	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.0117203995868621	0.242
18	2688618	T	C	18	2688620	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	9.62377384368104E-5	0.014
18	2688618	T	G	18	2688620	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999812185107861	0.972
18	2688619	T	A	18	2688621	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.0573444114392931	0.396
18	2688619	T	C	18	2688621	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	1.39503658415452E-4	0.046
18	2688619	T	G	18	2688621	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.0511639667366959	0.396
18	2688620	T	A	18	2688622	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.248270256306082	0.45
18	2688620	T	C	18	2688622	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	1.48850449507097E-4	0.058
18	2688620	T	G	18	2688622	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.171533640533802	0.44
18	2688621	A	C	18	2688623	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	1.20597253152211E-4	0.0
18	2688621	A	G	18	2688623	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	1.00299030900927E-4	0.008
18	2688621	A	T	18	2688623	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	5.4978990246456E-5	0.026
18	2688622	A	C	18	2688624	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.00124307831930303	0.076
18	2688622	A	G	18	2688624	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.966935434122051	0.714
18	2688622	A	T	18	2688624	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	8.93170441970266E-4	0.036
18	2688623	C	A	18	2688625	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.994623600827215	0.814
18	2688623	C	G	18	2688625	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999674213221267	0.85
18	2688623	C	T	18	2688625	y	n	intronic	SMCHD1	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.01012361166995	0.254
18	2688624	A	C	18	2688626	y	n	splicing	SMCHD1(NM_015295:exon7:c.754-2A>C)	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999985223844491	0.938
18	2688624	A	G	18	2688626	y	n	splicing	SMCHD1(NM_015295:exon7:c.754-2A>G)	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999985223844491	0.938
18	2688624	A	T	18	2688626	y	n	splicing	SMCHD1(NM_015295:exon7:c.754-2A>T)	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999988624979899	0.94
18	2688625	G	A	18	2688627	y	n	splicing	SMCHD1(NM_015295:exon7:c.754-1G>A)	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999948630793713	0.944
18	2688625	G	C	18	2688627	y	n	splicing	SMCHD1(NM_015295:exon7:c.754-1G>C)	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999904904668062	0.936
18	2688625	G	T	18	2688627	y	n	splicing	SMCHD1(NM_015295:exon7:c.754-1G>T)	.	.	ncRNA_exonic	ENSG00000266049	.	.	0.999904904668062	0.944
18	2688626	A	C	18	2688628	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.A754C:p.M252L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.A754C:p.M252L;ENSG00000101596:ENST00000261598:exon7:c.A754C:p.M252L;	0.624598721718241	0.562
18	2688626	A	G	18	2688628	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.A754G:p.M252V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.A754G:p.M252V;ENSG00000101596:ENST00000261598:exon7:c.A754G:p.M252V;	0.0133726991826777	0.142
18	2688626	A	T	18	2688628	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.A754T:p.M252L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.A754T:p.M252L;ENSG00000101596:ENST00000261598:exon7:c.A754T:p.M252L;	0.613614927576049	0.63
18	2688627	T	A	18	2688629	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.T755A:p.M252K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.T755A:p.M252K;ENSG00000101596:ENST00000261598:exon7:c.T755A:p.M252K;	0.428519319281123	0.47
18	2688627	T	C	18	2688629	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.T755C:p.M252T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.T755C:p.M252T;ENSG00000101596:ENST00000261598:exon7:c.T755C:p.M252T;	0.226073126801062	0.362
18	2688627	T	G	18	2688629	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.T755G:p.M252R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.T755G:p.M252R;ENSG00000101596:ENST00000261598:exon7:c.T755G:p.M252R;	0.37004382936498	0.434
18	2688743	A	C	18	2688745	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.A871C:p.K291Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.A871C:p.K291Q;ENSG00000101596:ENST00000261598:exon7:c.A871C:p.K291Q;	0.739628764679674	0.792
18	2688743	A	G	18	2688745	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.A871G:p.K291E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.A871G:p.K291E;ENSG00000101596:ENST00000261598:exon7:c.A871G:p.K291E;	0.366775441923948	0.46
18	2688743	A	T	18	2688745	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon7:c.A871T:p.K291X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon7:c.A871T:p.K291X;ENSG00000101596:ENST00000261598:exon7:c.A871T:p.K291X;	0.997560449021982	0.886
18	2688744	A	C	18	2688746	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.A872C:p.K291T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.A872C:p.K291T;ENSG00000101596:ENST00000261598:exon7:c.A872C:p.K291T;	0.999812499294048	0.98
18	2688744	A	G	18	2688746	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.A872G:p.K291R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.A872G:p.K291R;ENSG00000101596:ENST00000261598:exon7:c.A872G:p.K291R;	0.999352210237248	0.844
18	2688744	A	T	18	2688746	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.A872T:p.K291M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.A872T:p.K291M;ENSG00000101596:ENST00000261598:exon7:c.A872T:p.K291M;	0.999963607211164	0.992
18	2688745	G	A	18	2688747	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon7:c.G873A:p.K291K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.G873A:p.K291K;ENSG00000101596:ENST00000261598:exon7:c.G873A:p.K291K;	0.999973129279902	1.0
18	2688745	G	C	18	2688747	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.G873C:p.K291N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.G873C:p.K291N;ENSG00000101596:ENST00000261598:exon7:c.G873C:p.K291N;	0.99999675263713	1.0
18	2688745	G	T	18	2688747	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon7:c.G873T:p.K291N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon7:c.G873T:p.K291N;ENSG00000101596:ENST00000261598:exon7:c.G873T:p.K291N;	0.999989845216487	0.972
18	2688746	G	A	18	2688748	y	y	splicing	SMCHD1(NM_015295:exon7:c.873+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon7:c.873+1G>A;ENST00000261598:exon7:c.873+1G>A)	.	.	0.999981760802075	0.942
18	2688746	G	C	18	2688748	y	y	splicing	SMCHD1(NM_015295:exon7:c.873+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon7:c.873+1G>C;ENST00000261598:exon7:c.873+1G>C)	.	.	0.999981760802075	0.942
18	2688746	G	T	18	2688748	y	y	splicing	SMCHD1(NM_015295:exon7:c.873+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon7:c.873+1G>T;ENST00000261598:exon7:c.873+1G>T)	.	.	0.999981760802075	0.942
18	2688747	T	A	18	2688749	y	y	splicing	SMCHD1(NM_015295:exon7:c.873+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon7:c.873+2T>A;ENST00000261598:exon7:c.873+2T>A)	.	.	0.999989917668626	0.926
18	2688747	T	C	18	2688749	y	y	splicing	SMCHD1(NM_015295:exon7:c.873+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon7:c.873+2T>C;ENST00000261598:exon7:c.873+2T>C)	.	.	0.992323021482646	0.622
18	2688747	T	G	18	2688749	y	y	splicing	SMCHD1(NM_015295:exon7:c.873+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon7:c.873+2T>G;ENST00000261598:exon7:c.873+2T>G)	.	.	0.999989917668626	0.926
18	2688748	A	C	18	2688750	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999914561605705	0.95
18	2688748	A	G	18	2688750	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99642596698903	0.818
18	2688748	A	T	18	2688750	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999940676584819	0.958
18	2688749	C	A	18	2688751	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.51041479460205E-5	0.062
18	2688749	C	G	18	2688751	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.38249802042413E-4	0.066
18	2688749	C	T	18	2688751	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.71031270318859E-4	0.12
18	2688750	A	C	18	2688752	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.36617200286586E-5	0.056
18	2688750	A	G	18	2688752	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.27852479077914E-5	0.072
18	2688750	A	T	18	2688752	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.38094608801789E-4	0.026
18	2688751	A	C	18	2688753	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.21326162641615E-4	0.042
18	2688751	A	G	18	2688753	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.11250910769087E-4	0.004
18	2688751	A	T	18	2688753	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.17911605027804E-5	0.028
18	2688752	T	A	18	2688754	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00119012263977057	0.0
18	2688752	T	C	18	2688754	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00311497297959337	0.0
18	2688752	T	G	18	2688754	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00248449994873376	0.0
18	2688753	A	C	18	2688755	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.28310571719108E-4	0.0
18	2688753	A	G	18	2688755	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.00592560072926E-5	0.0
18	2688753	A	T	18	2688755	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.06511985415826E-4	0.006
18	2694513	T	A	18	2694515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.981596486623096	0.806
18	2694513	T	C	18	2694515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0184042873658744	0.114
18	2694513	T	G	18	2694515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.971738034569355	0.806
18	2694514	C	A	18	2694516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00294050927765671	0.046
18	2694514	C	G	18	2694516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.50773940119299E-4	0.058
18	2694514	C	T	18	2694516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.50034938938092E-5	0.0
18	2694515	A	C	18	2694517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.48646181816056E-5	0.014
18	2694515	A	G	18	2694517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.92371540094461E-4	0.008
18	2694515	A	T	18	2694517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.46325767455995E-5	0.024
18	2694516	C	A	18	2694518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.74938479255833E-4	0.014
18	2694516	C	G	18	2694518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999853173737623	0.982
18	2694516	C	T	18	2694518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.64682426238964E-5	0.002
18	2694517	T	A	18	2694519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0502968439802922	0.28
18	2694517	T	C	18	2694519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.61264577258091E-4	0.018
18	2694517	T	G	18	2694519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0177256664793317	0.294
18	2694518	C	A	18	2694520	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0010926411253227	0.118
18	2694518	C	G	18	2694520	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.56911728291288E-4	0.144
18	2694518	C	T	18	2694520	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.10834641511967E-4	0.002
18	2694519	T	A	18	2694521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0163944430774462	0.268
18	2694519	T	C	18	2694521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.69638684758431E-4	0.07
18	2694519	T	G	18	2694521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0116141512862176	0.23
18	2694520	T	A	18	2694522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.994892087371301	0.946
18	2694520	T	C	18	2694522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.75197847354909E-5	0.012
18	2694520	T	G	18	2694522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.291959853000979	0.494
18	2694521	G	A	18	2694523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.61177722740274E-5	0.0
18	2694521	G	C	18	2694523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.56106657401727E-5	0.0
18	2694521	G	T	18	2694523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.61177722740274E-5	0.0
18	2694522	T	A	18	2694524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0114481582589044	0.348
18	2694522	T	C	18	2694524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.32947240094769E-5	0.02
18	2694522	T	G	18	2694524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.991583585830175	0.738
18	2694523	A	C	18	2694525	y	y	splicing	SMCHD1(NM_015295:exon8:c.874-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.874-2A>C;ENST00000261598:exon8:c.874-2A>C)	.	.	0.999971317418422	0.882
18	2694523	A	G	18	2694525	y	y	splicing	SMCHD1(NM_015295:exon8:c.874-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.874-2A>G;ENST00000261598:exon8:c.874-2A>G)	.	.	0.999971317418422	0.878
18	2694523	A	T	18	2694525	y	y	splicing	SMCHD1(NM_015295:exon8:c.874-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.874-2A>T;ENST00000261598:exon8:c.874-2A>T)	.	.	0.999971317418422	0.888
18	2694524	G	A	18	2694526	y	y	splicing	SMCHD1(NM_015295:exon8:c.874-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.874-1G>A;ENST00000261598:exon8:c.874-1G>A)	.	.	0.999971209564868	0.934
18	2694524	G	C	18	2694526	y	y	splicing	SMCHD1(NM_015295:exon8:c.874-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.874-1G>C;ENST00000261598:exon8:c.874-1G>C)	.	.	0.999970205305079	0.922
18	2694524	G	T	18	2694526	y	y	splicing	SMCHD1(NM_015295:exon8:c.874-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.874-1G>T;ENST00000261598:exon8:c.874-1G>T)	.	.	0.999971209564868	0.934
18	2694525	C	A	18	2694527	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C874A:p.P292T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C874A:p.P292T;ENSG00000101596:ENST00000261598:exon8:c.C874A:p.P292T;	0.00114625483073087	0.042
18	2694525	C	G	18	2694527	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C874G:p.P292A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C874G:p.P292A;ENSG00000101596:ENST00000261598:exon8:c.C874G:p.P292A;	8.15384924561257E-4	0.152
18	2694525	C	T	18	2694527	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C874T:p.P292S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C874T:p.P292S;ENSG00000101596:ENST00000261598:exon8:c.C874T:p.P292S;	0.0447319575390208	0.504
18	2694526	C	A	18	2694528	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C875A:p.P292H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C875A:p.P292H;ENSG00000101596:ENST00000261598:exon8:c.C875A:p.P292H;	0.943208936917506	0.758
18	2694526	C	G	18	2694528	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C875G:p.P292R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C875G:p.P292R;ENSG00000101596:ENST00000261598:exon8:c.C875G:p.P292R;	0.0122449601654266	0.08
18	2694526	C	T	18	2694528	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C875T:p.P292L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C875T:p.P292L;ENSG00000101596:ENST00000261598:exon8:c.C875T:p.P292L;	0.0071092730240831	0.054
18	2694689	A	C	18	2694691	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.A1038C:p.L346F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.A1038C:p.L346F;ENSG00000101596:ENST00000261598:exon8:c.A1038C:p.L346F;	0.736843093268355	0.73
18	2694689	A	G	18	2694691	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon8:c.A1038G:p.L346L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.A1038G:p.L346L;ENSG00000101596:ENST00000261598:exon8:c.A1038G:p.L346L;	0.00961631022440606	0.214
18	2694689	A	T	18	2694691	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.A1038T:p.L346F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.A1038T:p.L346F;ENSG00000101596:ENST00000261598:exon8:c.A1038T:p.L346F;	0.908001561464981	0.536
18	2694690	G	A	18	2694692	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.G1039A:p.A347T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.G1039A:p.A347T;ENSG00000101596:ENST00000261598:exon8:c.G1039A:p.A347T;	6.48824796948435E-5	0.18
18	2694690	G	C	18	2694692	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.G1039C:p.A347P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.G1039C:p.A347P;ENSG00000101596:ENST00000261598:exon8:c.G1039C:p.A347P;	2.01686603418923E-5	0.092
18	2694690	G	T	18	2694692	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.G1039T:p.A347S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.G1039T:p.A347S;ENSG00000101596:ENST00000261598:exon8:c.G1039T:p.A347S;	6.48001147375951E-6	0.036
18	2694691	C	A	18	2694693	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C1040A:p.A347E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C1040A:p.A347E;ENSG00000101596:ENST00000261598:exon8:c.C1040A:p.A347E;	0.963555627365022	0.732
18	2694691	C	G	18	2694693	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C1040G:p.A347G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C1040G:p.A347G;ENSG00000101596:ENST00000261598:exon8:c.C1040G:p.A347G;	0.832469646268808	0.504
18	2694691	C	T	18	2694693	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon8:c.C1040T:p.A347V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon8:c.C1040T:p.A347V;ENSG00000101596:ENST00000261598:exon8:c.C1040T:p.A347V;	0.989657971132093	0.796
18	2694692	G	A	18	2694694	y	y	splicing	SMCHD1(NM_015295:exon8:c.1040+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.1040+1G>A;ENST00000261598:exon8:c.1040+1G>A)	.	.	0.999985532734767	0.936
18	2694692	G	C	18	2694694	y	y	splicing	SMCHD1(NM_015295:exon8:c.1040+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.1040+1G>C;ENST00000261598:exon8:c.1040+1G>C)	.	.	0.999985532734767	0.936
18	2694692	G	T	18	2694694	y	y	splicing	SMCHD1(NM_015295:exon8:c.1040+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.1040+1G>T;ENST00000261598:exon8:c.1040+1G>T)	.	.	0.999985532734767	0.936
18	2694693	T	A	18	2694695	y	y	splicing	SMCHD1(NM_015295:exon8:c.1040+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.1040+2T>A;ENST00000261598:exon8:c.1040+2T>A)	.	.	0.999988247793601	0.928
18	2694693	T	C	18	2694695	y	y	splicing	SMCHD1(NM_015295:exon8:c.1040+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.1040+2T>C;ENST00000261598:exon8:c.1040+2T>C)	.	.	0.99340600729494	0.642
18	2694693	T	G	18	2694695	y	y	splicing	SMCHD1(NM_015295:exon8:c.1040+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon8:c.1040+2T>G;ENST00000261598:exon8:c.1040+2T>G)	.	.	0.999988247793601	0.928
18	2694694	A	C	18	2694696	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998855609961286	0.922
18	2694694	A	G	18	2694696	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.729137839137562	0.458
18	2694694	A	T	18	2694696	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999608804601068	0.982
18	2694695	A	C	18	2694697	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.933761879155485	0.7
18	2694695	A	G	18	2694697	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.948204651093673	0.772
18	2694695	A	T	18	2694697	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997119950266816	0.92
18	2694696	G	A	18	2694698	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99998431165023	0.992
18	2694696	G	C	18	2694698	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999979175448137	0.982
18	2694696	G	T	18	2694698	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999971764389039	0.944
18	2694697	T	A	18	2694699	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.935359648269947	0.514
18	2694697	T	C	18	2694699	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.909453128950397	0.712
18	2694697	T	G	18	2694699	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.985986443660659	0.728
18	2694698	A	C	18	2694700	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71081436872022E-5	0.008
18	2694698	A	G	18	2694700	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71081436872022E-5	0.012
18	2694698	A	T	18	2694700	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71081436872022E-5	0.016
18	2694699	A	C	18	2694701	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.68670476450795E-5	0.002
18	2694699	A	G	18	2694701	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.86777871072347E-5	0.002
18	2694699	A	T	18	2694701	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.68670476450795E-5	0.0
18	2697018	T	A	18	2697020	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0554360900490072	0.398
18	2697018	T	C	18	2697020	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0017755492866882	0.046
18	2697018	T	G	18	2697020	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0423985419470081	0.386
18	2697019	C	A	18	2697021	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.22183317569198E-4	0.022
18	2697019	C	G	18	2697021	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.17852934223687E-4	0.012
18	2697019	C	T	18	2697021	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.50714567537486E-5	0.0
18	2697020	T	A	18	2697022	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0145460912448382	0.28
18	2697020	T	C	18	2697022	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.23663473965192E-4	0.002
18	2697020	T	G	18	2697022	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0228155594497537	0.326
18	2697021	C	A	18	2697023	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.91598892505419E-5	0.188
18	2697021	C	G	18	2697023	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.91879155014481E-5	0.034
18	2697021	C	T	18	2697023	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.19143572494702E-5	0.024
18	2697022	T	A	18	2697024	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.52357469181369E-4	0.094
18	2697022	T	C	18	2697024	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.87906133478268E-4	0.008
18	2697022	T	G	18	2697024	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.11069687546499E-4	0.076
18	2697023	A	C	18	2697025	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.12471327329401E-6	0.004
18	2697023	A	G	18	2697025	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.20590404879984E-5	0.006
18	2697023	A	T	18	2697025	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.60887694911119E-6	0.024
18	2697024	T	A	18	2697026	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0135014299760999	0.232
18	2697024	T	C	18	2697026	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.87053822914913E-4	0.066
18	2697024	T	G	18	2697026	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999564465416378	0.918
18	2697025	T	A	18	2697027	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.224323807375279	0.404
18	2697025	T	C	18	2697027	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00738609715523475	0.14
18	2697025	T	G	18	2697027	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.239991320521826	0.418
18	2697026	T	A	18	2697028	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.99504717043544E-5	0.02
18	2697026	T	C	18	2697028	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.14708770277202E-5	0.012
18	2697026	T	G	18	2697028	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.90116115397071E-5	0.02
18	2697027	T	A	18	2697029	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0260804166870349	0.242
18	2697027	T	C	18	2697029	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.11381142688041E-4	0.024
18	2697027	T	G	18	2697029	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.903783608923351	0.67
18	2697028	A	C	18	2697030	y	y	splicing	SMCHD1(NM_015295:exon9:c.1041-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1041-2A>C;ENST00000261598:exon9:c.1041-2A>C)	.	.	0.999962958601995	0.84
18	2697028	A	G	18	2697030	y	y	splicing	SMCHD1(NM_015295:exon9:c.1041-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1041-2A>G;ENST00000261598:exon9:c.1041-2A>G)	.	.	0.999962958601995	0.84
18	2697028	A	T	18	2697030	y	y	splicing	SMCHD1(NM_015295:exon9:c.1041-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1041-2A>T;ENST00000261598:exon9:c.1041-2A>T)	.	.	0.999969255906173	0.842
18	2697029	G	A	18	2697031	y	y	splicing	SMCHD1(NM_015295:exon9:c.1041-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1041-1G>A;ENST00000261598:exon9:c.1041-1G>A)	.	.	0.999968430223941	0.888
18	2697029	G	C	18	2697031	y	y	splicing	SMCHD1(NM_015295:exon9:c.1041-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1041-1G>C;ENST00000261598:exon9:c.1041-1G>C)	.	.	0.999965143305126	0.864
18	2697029	G	T	18	2697031	y	y	splicing	SMCHD1(NM_015295:exon9:c.1041-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1041-1G>T;ENST00000261598:exon9:c.1041-1G>T)	.	.	0.999965143305126	0.88
18	2697030	G	A	18	2697032	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon9:c.G1041A:p.A347A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.G1041A:p.A347A;ENSG00000101596:ENST00000261598:exon9:c.G1041A:p.A347A;	0.0116206584458233	0.246
18	2697030	G	C	18	2697032	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon9:c.G1041C:p.A347A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.G1041C:p.A347A;ENSG00000101596:ENST00000261598:exon9:c.G1041C:p.A347A;	0.362413086066234	0.436
18	2697030	G	T	18	2697032	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon9:c.G1041T:p.A347A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.G1041T:p.A347A;ENSG00000101596:ENST00000261598:exon9:c.G1041T:p.A347A;	0.489814508694798	0.464
18	2697031	C	A	18	2697033	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.C1042A:p.H348N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.C1042A:p.H348N;ENSG00000101596:ENST00000261598:exon9:c.C1042A:p.H348N;	0.929652456348037	0.628
18	2697031	C	G	18	2697033	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.C1042G:p.H348D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.C1042G:p.H348D;ENSG00000101596:ENST00000261598:exon9:c.C1042G:p.H348D;	0.616029082678336	0.526
18	2697031	C	T	18	2697033	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.C1042T:p.H348Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.C1042T:p.H348Y;ENSG00000101596:ENST00000261598:exon9:c.C1042T:p.H348Y;	0.822162731267392	0.696
18	2697118	G	A	18	2697120	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.G1129A:p.E377K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.G1129A:p.E377K;ENSG00000101596:ENST00000261598:exon9:c.G1129A:p.E377K;	0.327873636733704	0.446
18	2697118	G	C	18	2697120	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.G1129C:p.E377Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.G1129C:p.E377Q;ENSG00000101596:ENST00000261598:exon9:c.G1129C:p.E377Q;	0.908975935710469	0.66
18	2697118	G	T	18	2697120	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon9:c.G1129T:p.E377X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon9:c.G1129T:p.E377X;ENSG00000101596:ENST00000261598:exon9:c.G1129T:p.E377X;	0.992347737668147	0.794
18	2697119	A	C	18	2697121	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.A1130C:p.E377A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.A1130C:p.E377A;ENSG00000101596:ENST00000261598:exon9:c.A1130C:p.E377A;	0.998432311816659	0.98
18	2697119	A	G	18	2697121	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.A1130G:p.E377G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.A1130G:p.E377G;ENSG00000101596:ENST00000261598:exon9:c.A1130G:p.E377G;	0.999798081534586	0.992
18	2697119	A	T	18	2697121	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.A1130T:p.E377V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.A1130T:p.E377V;ENSG00000101596:ENST00000261598:exon9:c.A1130T:p.E377V;	0.999875841397372	0.984
18	2697120	A	C	18	2697122	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.A1131C:p.E377D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.A1131C:p.E377D;ENSG00000101596:ENST00000261598:exon9:c.A1131C:p.E377D;	5.21664136857828E-5	0.13
18	2697120	A	G	18	2697122	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon9:c.A1131G:p.E377E;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.A1131G:p.E377E;ENSG00000101596:ENST00000261598:exon9:c.A1131G:p.E377E;	9.83450841687682E-4	0.096
18	2697120	A	T	18	2697122	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon9:c.A1131T:p.E377D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon9:c.A1131T:p.E377D;ENSG00000101596:ENST00000261598:exon9:c.A1131T:p.E377D;	0.00196520345023359	0.142
18	2697121	G	A	18	2697123	y	y	splicing	SMCHD1(NM_015295:exon9:c.1131+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1131+1G>A;ENST00000261598:exon9:c.1131+1G>A)	.	.	0.999986675681007	0.932
18	2697121	G	C	18	2697123	y	y	splicing	SMCHD1(NM_015295:exon9:c.1131+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1131+1G>C;ENST00000261598:exon9:c.1131+1G>C)	.	.	0.999986675681007	0.932
18	2697121	G	T	18	2697123	y	y	splicing	SMCHD1(NM_015295:exon9:c.1131+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1131+1G>T;ENST00000261598:exon9:c.1131+1G>T)	.	.	0.999986675681007	0.932
18	2697122	T	A	18	2697124	y	y	splicing	SMCHD1(NM_015295:exon9:c.1131+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1131+2T>A;ENST00000261598:exon9:c.1131+2T>A)	.	.	0.999988247793601	0.924
18	2697122	T	C	18	2697124	y	y	splicing	SMCHD1(NM_015295:exon9:c.1131+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1131+2T>C;ENST00000261598:exon9:c.1131+2T>C)	.	.	0.986973409415639	0.616
18	2697122	T	G	18	2697124	y	y	splicing	SMCHD1(NM_015295:exon9:c.1131+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon9:c.1131+2T>G;ENST00000261598:exon9:c.1131+2T>G)	.	.	0.999988247793601	0.924
18	2697123	A	C	18	2697125	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999267287191185	0.918
18	2697123	A	G	18	2697125	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.873473581738113	0.53
18	2697123	A	T	18	2697125	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99956312320069	0.936
18	2697124	A	C	18	2697126	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.985432103892984	0.79
18	2697124	A	G	18	2697126	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.968906655508891	0.892
18	2697124	A	T	18	2697126	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.971503009231329	0.826
18	2697125	G	A	18	2697127	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999973798382213	0.98
18	2697125	G	C	18	2697127	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999993848640733	0.976
18	2697125	G	T	18	2697127	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999990964828062	0.992
18	2697126	A	C	18	2697128	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00882949061528641	0.11
18	2697126	A	G	18	2697128	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00112511229949065	0.01
18	2697126	A	T	18	2697128	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.1094627632013E-4	0.044
18	2697127	G	A	18	2697129	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.39279405123141E-5	0.0
18	2697127	G	C	18	2697129	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.78616081396008E-5	0.006
18	2697127	G	T	18	2697129	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.94841998192229E-5	0.054
18	2697128	A	C	18	2697130	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.22308160246672E-5	0.0
18	2697128	A	G	18	2697130	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.07027526366171E-6	0.0
18	2697128	A	T	18	2697130	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.35883778153747E-5	0.004
18	2697817	T	A	18	2697819	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00314380389520665	0.288
18	2697817	T	C	18	2697819	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.91346707687453E-4	0.054
18	2697817	T	G	18	2697819	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00169140337859296	0.284
18	2697818	T	A	18	2697820	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.42413622229372E-4	0.128
18	2697818	T	C	18	2697820	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.16354517105538E-5	0.034
18	2697818	T	G	18	2697820	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.05302982346357E-4	0.16
18	2697819	T	A	18	2697821	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0124363558408813	0.324
18	2697819	T	C	18	2697821	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.64434420521886E-4	0.04
18	2697819	T	G	18	2697821	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00729754764244843	0.302
18	2697820	T	A	18	2697822	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.39405015841071E-4	0.204
18	2697820	T	C	18	2697822	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.71429943823773E-5	0.004
18	2697820	T	G	18	2697822	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.39405015841071E-4	0.218
18	2697821	T	A	18	2697823	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.6496942375001E-5	0.07
18	2697821	T	C	18	2697823	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.5470142908432E-5	0.026
18	2697821	T	G	18	2697823	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.90996813017255E-5	0.074
18	2697822	A	C	18	2697824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.96314834986414E-5	0.008
18	2697822	A	G	18	2697824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.90569052718371E-5	0.01
18	2697822	A	T	18	2697824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.152041004655E-5	0.0
18	2697823	T	A	18	2697825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0029946416306235	0.204
18	2697823	T	C	18	2697825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.28391879096999E-4	0.032
18	2697823	T	G	18	2697825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999628986448356	0.926
18	2697824	T	A	18	2697826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.068222601066898	0.37
18	2697824	T	C	18	2697826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0109449327451653	0.158
18	2697824	T	G	18	2697826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0886783986424955	0.386
18	2697825	T	A	18	2697827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.54186728133973E-5	0.024
18	2697825	T	C	18	2697827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.83281276173765E-5	0.026
18	2697825	T	G	18	2697827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.96232548648417E-5	0.01
18	2697826	T	A	18	2697828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0767577318536458	0.262
18	2697826	T	C	18	2697828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.64358333267684E-4	0.03
18	2697826	T	G	18	2697828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.748383866952349	0.532
18	2697827	A	C	18	2697829	y	y	splicing	SMCHD1(NM_015295:exon10:c.1132-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1132-2A>C;ENST00000261598:exon10:c.1132-2A>C)	.	.	0.999970104448312	0.884
18	2697827	A	G	18	2697829	y	y	splicing	SMCHD1(NM_015295:exon10:c.1132-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1132-2A>G;ENST00000261598:exon10:c.1132-2A>G)	.	.	0.999970104448312	0.886
18	2697827	A	T	18	2697829	y	y	splicing	SMCHD1(NM_015295:exon10:c.1132-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1132-2A>T;ENST00000261598:exon10:c.1132-2A>T)	.	.	0.999978156327223	0.934
18	2697828	G	A	18	2697830	y	y	splicing	SMCHD1(NM_015295:exon10:c.1132-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1132-1G>A;ENST00000261598:exon10:c.1132-1G>A)	.	.	0.999938422912956	0.942
18	2697828	G	C	18	2697830	y	y	splicing	SMCHD1(NM_015295:exon10:c.1132-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1132-1G>C;ENST00000261598:exon10:c.1132-1G>C)	.	.	0.999938422912956	0.952
18	2697828	G	T	18	2697830	y	y	splicing	SMCHD1(NM_015295:exon10:c.1132-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1132-1G>T;ENST00000261598:exon10:c.1132-1G>T)	.	.	0.999938422912956	0.942
18	2697829	A	C	18	2697831	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.A1132C:p.I378L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.A1132C:p.I378L;ENSG00000101596:ENST00000261598:exon10:c.A1132C:p.I378L;	0.0127285500865678	0.14
18	2697829	A	G	18	2697831	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.A1132G:p.I378V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.A1132G:p.I378V;ENSG00000101596:ENST00000261598:exon10:c.A1132G:p.I378V;	1.07485694871619E-4	0.014
18	2697829	A	T	18	2697831	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.A1132T:p.I378F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.A1132T:p.I378F;ENSG00000101596:ENST00000261598:exon10:c.A1132T:p.I378F;	0.0174450143590103	0.25
18	2697830	T	A	18	2697832	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.T1133A:p.I378N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.T1133A:p.I378N;ENSG00000101596:ENST00000261598:exon10:c.T1133A:p.I378N;	0.0997247147204684	0.386
18	2697830	T	C	18	2697832	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.T1133C:p.I378T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.T1133C:p.I378T;ENSG00000101596:ENST00000261598:exon10:c.T1133C:p.I378T;	0.245012770423548	0.362
18	2697830	T	G	18	2697832	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.T1133G:p.I378S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.T1133G:p.I378S;ENSG00000101596:ENST00000261598:exon10:c.T1133G:p.I378S;	0.121833239668933	0.394
18	2698037	C	A	18	2698039	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon10:c.C1340A:p.S447X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon10:c.C1340A:p.S447X;ENSG00000101596:ENST00000261598:exon10:c.C1340A:p.S447X;	0.959156324535342	0.788
18	2698037	C	G	18	2698039	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon10:c.C1340G:p.S447X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon10:c.C1340G:p.S447X;ENSG00000101596:ENST00000261598:exon10:c.C1340G:p.S447X;	0.919026251070595	0.692
18	2698037	C	T	18	2698039	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.C1340T:p.S447L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.C1340T:p.S447L;ENSG00000101596:ENST00000261598:exon10:c.C1340T:p.S447L;	0.970849120725553	0.636
18	2698038	A	C	18	2698040	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon10:c.A1341C:p.S447S;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.A1341C:p.S447S;ENSG00000101596:ENST00000261598:exon10:c.A1341C:p.S447S;	0.496138709016603	0.554
18	2698038	A	G	18	2698040	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon10:c.A1341G:p.S447S;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.A1341G:p.S447S;ENSG00000101596:ENST00000261598:exon10:c.A1341G:p.S447S;	0.463494229337707	0.474
18	2698038	A	T	18	2698040	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon10:c.A1341T:p.S447S;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.A1341T:p.S447S;ENSG00000101596:ENST00000261598:exon10:c.A1341T:p.S447S;	0.96614026036376	0.7
18	2698039	A	C	18	2698041	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.A1342C:p.K448Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.A1342C:p.K448Q;ENSG00000101596:ENST00000261598:exon10:c.A1342C:p.K448Q;	3.61493120101201E-4	0.026
18	2698039	A	G	18	2698041	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon10:c.A1342G:p.K448E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon10:c.A1342G:p.K448E;ENSG00000101596:ENST00000261598:exon10:c.A1342G:p.K448E;	3.35566308208059E-4	0.092
18	2698039	A	T	18	2698041	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon10:c.A1342T:p.K448X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon10:c.A1342T:p.K448X;ENSG00000101596:ENST00000261598:exon10:c.A1342T:p.K448X;	0.683049920557944	0.61
18	2698040	G	A	18	2698042	y	y	splicing	SMCHD1(NM_015295:exon10:c.1342+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1342+1G>A;ENST00000261598:exon10:c.1342+1G>A)	.	.	0.999969242257053	0.9
18	2698040	G	C	18	2698042	y	y	splicing	SMCHD1(NM_015295:exon10:c.1342+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1342+1G>C;ENST00000261598:exon10:c.1342+1G>C)	.	.	0.999965143305126	0.894
18	2698040	G	T	18	2698042	y	y	splicing	SMCHD1(NM_015295:exon10:c.1342+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1342+1G>T;ENST00000261598:exon10:c.1342+1G>T)	.	.	0.999968430223941	0.902
18	2698041	T	A	18	2698043	y	y	splicing	SMCHD1(NM_015295:exon10:c.1342+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1342+2T>A;ENST00000261598:exon10:c.1342+2T>A)	.	.	0.999969255906173	0.882
18	2698041	T	C	18	2698043	y	y	splicing	SMCHD1(NM_015295:exon10:c.1342+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1342+2T>C;ENST00000261598:exon10:c.1342+2T>C)	.	.	0.935289457979121	0.582
18	2698041	T	G	18	2698043	y	y	splicing	SMCHD1(NM_015295:exon10:c.1342+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon10:c.1342+2T>G;ENST00000261598:exon10:c.1342+2T>G)	.	.	0.999969255906173	0.866
18	2698042	A	C	18	2698044	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999519022226557	0.862
18	2698042	A	G	18	2698044	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.990079398072518	0.682
18	2698042	A	T	18	2698044	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999797942340089	0.918
18	2698043	T	A	18	2698045	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.21030945993608E-5	0.014
18	2698043	T	C	18	2698045	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.49555037035096E-5	0.01
18	2698043	T	G	18	2698045	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.61787560344872E-5	0.05
18	2698044	G	A	18	2698046	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999891941692596	0.928
18	2698044	G	C	18	2698046	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999968102088219	0.968
18	2698044	G	T	18	2698046	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999968102088219	0.938
18	2698045	T	A	18	2698047	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.711185242115343	0.532
18	2698045	T	C	18	2698047	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.369457458628036	0.45
18	2698045	T	G	18	2698047	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.127756737527298	0.526
18	2698046	T	A	18	2698048	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.00541463418382E-4	0.04
18	2698046	T	C	18	2698048	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.00541463418382E-4	0.008
18	2698046	T	G	18	2698048	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.1397057221009E-4	0.01
18	2698047	A	C	18	2698049	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.09298446263387E-5	0.006
18	2698047	A	G	18	2698049	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.43941335223342E-5	0.054
18	2698047	A	T	18	2698049	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.58524360353582E-5	0.006
18	2700525	C	A	18	2700527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00124345700678861	0.046
18	2700525	C	G	18	2700527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00399930510544124	0.086
18	2700525	C	T	18	2700527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.05610046827754E-4	0.006
18	2700526	T	A	18	2700528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.485261579584472	0.544
18	2700526	T	C	18	2700528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00549116663286085	0.18
18	2700526	T	G	18	2700528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.153658148270499	0.53
18	2700527	T	A	18	2700529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0102038988925736	0.406
18	2700527	T	C	18	2700529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.32343922748299E-4	0.128
18	2700527	T	G	18	2700529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00338574736817435	0.326
18	2700528	T	A	18	2700530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0167593215509846	0.414
18	2700528	T	C	18	2700530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.71894372700568E-4	0.078
18	2700528	T	G	18	2700530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00836040131599152	0.378
18	2700529	T	A	18	2700531	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999156683962617	0.9
18	2700529	T	C	18	2700531	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.4413175445225E-5	0.0
18	2700529	T	G	18	2700531	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00193845262878457	0.098
18	2700530	G	A	18	2700532	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.72740418834201E-4	0.016
18	2700530	G	C	18	2700532	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.10569524529937E-5	0.002
18	2700530	G	T	18	2700532	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.53548127577521E-5	0.004
18	2700531	A	C	18	2700533	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.12335020055276E-5	0.01
18	2700531	A	G	18	2700533	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.88452307775995E-4	0.01
18	2700531	A	T	18	2700533	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.07912601396662E-5	0.008
18	2700532	T	A	18	2700534	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.136310564952015	0.476
18	2700532	T	C	18	2700534	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0025803590936561	0.12
18	2700532	T	G	18	2700534	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999851096872693	0.97
18	2700533	C	A	18	2700535	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.73457942217304E-5	0.004
18	2700533	C	G	18	2700535	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.43598908169128E-4	0.022
18	2700533	C	T	18	2700535	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.83773504816981E-5	0.0
18	2700534	T	A	18	2700536	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.576758492752717	0.444
18	2700534	T	C	18	2700536	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.54148933607034E-4	0.048
18	2700534	T	G	18	2700536	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999087819561189	0.736
18	2700535	A	C	18	2700537	y	y	splicing	SMCHD1(NM_015295:exon11:c.1343-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1343-2A>C;ENST00000261598:exon11:c.1343-2A>C)	.	.	0.999976786905603	0.78
18	2700535	A	G	18	2700537	y	y	splicing	SMCHD1(NM_015295:exon11:c.1343-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1343-2A>G;ENST00000261598:exon11:c.1343-2A>G)	.	.	0.999976786905603	0.78
18	2700535	A	T	18	2700537	y	y	splicing	SMCHD1(NM_015295:exon11:c.1343-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1343-2A>T;ENST00000261598:exon11:c.1343-2A>T)	.	.	0.999976786905603	0.778
18	2700536	G	A	18	2700538	y	y	splicing	SMCHD1(NM_015295:exon11:c.1343-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1343-1G>A;ENST00000261598:exon11:c.1343-1G>A)	.	.	0.999971424165564	0.756
18	2700536	G	C	18	2700538	y	y	splicing	SMCHD1(NM_015295:exon11:c.1343-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1343-1G>C;ENST00000261598:exon11:c.1343-1G>C)	.	.	0.999930172689506	0.744
18	2700536	G	T	18	2700538	y	y	splicing	SMCHD1(NM_015295:exon11:c.1343-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1343-1G>T;ENST00000261598:exon11:c.1343-1G>T)	.	.	0.999930172689506	0.742
18	2700537	A	C	18	2700539	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1343C:p.K448T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1343C:p.K448T;ENSG00000101596:ENST00000261598:exon11:c.A1343C:p.K448T;	0.00341827070259998	0.056
18	2700537	A	G	18	2700539	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1343G:p.K448R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1343G:p.K448R;ENSG00000101596:ENST00000261598:exon11:c.A1343G:p.K448R;	4.05534552846998E-5	0.012
18	2700537	A	T	18	2700539	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1343T:p.K448I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1343T:p.K448I;ENSG00000101596:ENST00000261598:exon11:c.A1343T:p.K448I;	5.41024404835291E-4	0.058
18	2700538	A	C	18	2700540	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1344C:p.K448N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1344C:p.K448N;ENSG00000101596:ENST00000261598:exon11:c.A1344C:p.K448N;	7.21392051768321E-4	0.028
18	2700538	A	G	18	2700540	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon11:c.A1344G:p.K448K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1344G:p.K448K;ENSG00000101596:ENST00000261598:exon11:c.A1344G:p.K448K;	7.01645467286764E-5	0.016
18	2700538	A	T	18	2700540	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1344T:p.K448N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1344T:p.K448N;ENSG00000101596:ENST00000261598:exon11:c.A1344T:p.K448N;	2.54311434638526E-4	0.01
18	2700655	A	C	18	2700657	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1461C:p.E487D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1461C:p.E487D;ENSG00000101596:ENST00000261598:exon11:c.A1461C:p.E487D;	4.82014252807168E-5	0.018
18	2700655	A	G	18	2700657	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon11:c.A1461G:p.E487E;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1461G:p.E487E;ENSG00000101596:ENST00000261598:exon11:c.A1461G:p.E487E;	1.76795414380526E-4	0.006
18	2700655	A	T	18	2700657	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1461T:p.E487D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1461T:p.E487D;ENSG00000101596:ENST00000261598:exon11:c.A1461T:p.E487D;	0.0056621202299757	0.282
18	2700656	G	A	18	2700658	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.G1462A:p.D488N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.G1462A:p.D488N;ENSG00000101596:ENST00000261598:exon11:c.G1462A:p.D488N;	0.0119388510980438	0.124
18	2700656	G	C	18	2700658	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.G1462C:p.D488H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.G1462C:p.D488H;ENSG00000101596:ENST00000261598:exon11:c.G1462C:p.D488H;	0.0346188926220227	0.102
18	2700656	G	T	18	2700658	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.G1462T:p.D488Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.G1462T:p.D488Y;ENSG00000101596:ENST00000261598:exon11:c.G1462T:p.D488Y;	0.0464931192181689	0.154
18	2700657	A	C	18	2700659	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1463C:p.D488A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1463C:p.D488A;ENSG00000101596:ENST00000261598:exon11:c.A1463C:p.D488A;	0.0253262113187553	0.14
18	2700657	A	G	18	2700659	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1463G:p.D488G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1463G:p.D488G;ENSG00000101596:ENST00000261598:exon11:c.A1463G:p.D488G;	0.00160749060395725	0.06
18	2700657	A	T	18	2700659	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon11:c.A1463T:p.D488V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon11:c.A1463T:p.D488V;ENSG00000101596:ENST00000261598:exon11:c.A1463T:p.D488V;	0.175270568098707	0.478
18	2700658	G	A	18	2700660	y	y	splicing	SMCHD1(NM_015295:exon11:c.1463+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1463+1G>A;ENST00000261598:exon11:c.1463+1G>A)	.	.	0.999952286258862	0.866
18	2700658	G	C	18	2700660	y	y	splicing	SMCHD1(NM_015295:exon11:c.1463+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1463+1G>C;ENST00000261598:exon11:c.1463+1G>C)	.	.	0.999942513266374	0.858
18	2700658	G	T	18	2700660	y	y	splicing	SMCHD1(NM_015295:exon11:c.1463+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1463+1G>T;ENST00000261598:exon11:c.1463+1G>T)	.	.	0.999952286258862	0.864
18	2700659	T	A	18	2700661	y	y	splicing	SMCHD1(NM_015295:exon11:c.1463+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1463+2T>A;ENST00000261598:exon11:c.1463+2T>A)	.	.	0.999984399620937	0.748
18	2700659	T	C	18	2700661	y	y	splicing	SMCHD1(NM_015295:exon11:c.1463+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1463+2T>C;ENST00000261598:exon11:c.1463+2T>C)	.	.	0.900683492313976	0.476
18	2700659	T	G	18	2700661	y	y	splicing	SMCHD1(NM_015295:exon11:c.1463+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon11:c.1463+2T>G;ENST00000261598:exon11:c.1463+2T>G)	.	.	0.999989378869813	0.75
18	2700660	A	C	18	2700662	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999758331126173	0.902
18	2700660	A	G	18	2700662	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0313263531206747	0.326
18	2700660	A	T	18	2700662	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999680557002309	0.92
18	2700661	A	C	18	2700663	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.525488199860335	0.522
18	2700661	A	G	18	2700663	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.990803104440831	0.736
18	2700661	A	T	18	2700663	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.971997566648167	0.724
18	2700662	G	A	18	2700664	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999933149702188	0.918
18	2700662	G	C	18	2700664	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999979423477142	0.948
18	2700662	G	T	18	2700664	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999951221063275	0.928
18	2700663	T	A	18	2700665	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.849738841353464	0.604
18	2700663	T	C	18	2700665	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.400722545978861	0.466
18	2700663	T	G	18	2700665	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.948118957907174	0.712
18	2700664	T	A	18	2700666	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.57368379873993E-6	0.0
18	2700664	T	C	18	2700666	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.99248562560236E-6	0.0
18	2700664	T	G	18	2700666	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.57368379873993E-6	0.0
18	2700665	T	A	18	2700667	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.30416176564839E-4	0.028
18	2700665	T	C	18	2700667	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.86432379565904E-4	0.02
18	2700665	T	G	18	2700667	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.30416176564839E-4	0.034
18	2700721	G	A	18	2700723	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.54144491893666E-5	0.074
18	2700721	G	C	18	2700723	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.42944544648405E-5	0.118
18	2700721	G	T	18	2700723	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.10042643817238E-5	0.084
18	2700722	T	A	18	2700724	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.629756388920844	0.562
18	2700722	T	C	18	2700724	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0322813621346784	0.302
18	2700722	T	G	18	2700724	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.577213016027996	0.504
18	2700723	T	A	18	2700725	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.882288546338407	0.602
18	2700723	T	C	18	2700725	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00113333630822288	0.11
18	2700723	T	G	18	2700725	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.551326518547294	0.518
18	2700724	C	A	18	2700726	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00201236418642593	0.094
18	2700724	C	G	18	2700726	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.8832562110271E-4	0.074
18	2700724	C	T	18	2700726	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.03161454140964E-4	0.028
18	2700725	T	A	18	2700727	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999827560294254	0.968
18	2700725	T	C	18	2700727	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.77151049139552E-5	0.042
18	2700725	T	G	18	2700727	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.016603847254961	0.452
18	2700726	G	A	18	2700728	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.88003015199952E-5	0.104
18	2700726	G	C	18	2700728	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.41707222559951E-4	0.294
18	2700726	G	T	18	2700728	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.21784473419619E-4	0.254
18	2700727	T	A	18	2700729	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.937675790360059	0.64
18	2700727	T	C	18	2700729	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00137985678278732	0.068
18	2700727	T	G	18	2700729	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.920974683234763	0.614
18	2700728	T	A	18	2700730	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.923826600141952	0.63
18	2700728	T	C	18	2700730	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.097468146434439	0.184
18	2700728	T	G	18	2700730	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.886725146747829	0.608
18	2700729	C	A	18	2700731	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.21812202147854E-6	0.002
18	2700729	C	G	18	2700731	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.57931143738484E-5	0.012
18	2700729	C	T	18	2700731	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.81176004511726E-5	0.014
18	2700730	A	C	18	2700732	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.51326766740105E-5	0.116
18	2700730	A	G	18	2700732	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00246822570915742	0.228
18	2700730	A	T	18	2700732	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.201291924522E-5	0.02
18	2700731	A	C	18	2700733	y	y	splicing	SMCHD1(NM_015295:exon12:c.1464-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon12:c.1464-2A>C;ENST00000261598:exon12:c.1464-2A>C)	.	.	0.999985141591016	0.902
18	2700731	A	G	18	2700733	y	y	splicing	SMCHD1(NM_015295:exon12:c.1464-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon12:c.1464-2A>G;ENST00000261598:exon12:c.1464-2A>G)	.	.	0.999985141591016	0.902
18	2700731	A	T	18	2700733	y	y	splicing	SMCHD1(NM_015295:exon12:c.1464-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon12:c.1464-2A>T;ENST00000261598:exon12:c.1464-2A>T)	.	.	0.999985141591016	0.904
18	2700732	G	A	18	2700734	y	y	splicing	SMCHD1(NM_015295:exon12:c.1464-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon12:c.1464-1G>A;ENST00000261598:exon12:c.1464-1G>A)	.	.	0.999929829014612	0.906
18	2700732	G	C	18	2700734	y	y	splicing	SMCHD1(NM_015295:exon12:c.1464-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon12:c.1464-1G>C;ENST00000261598:exon12:c.1464-1G>C)	.	.	0.999929829014612	0.922
18	2700732	G	T	18	2700734	y	y	splicing	SMCHD1(NM_015295:exon12:c.1464-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon12:c.1464-1G>T;ENST00000261598:exon12:c.1464-1G>T)	.	.	0.999929829014612	0.922
18	2700733	C	A	18	2700735	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.C1464A:p.D488E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.C1464A:p.D488E;ENSG00000101596:ENST00000261598:exon12:c.C1464A:p.D488E;	1.40781576906163E-4	0.044
18	2700733	C	G	18	2700735	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.C1464G:p.D488E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.C1464G:p.D488E;ENSG00000101596:ENST00000261598:exon12:c.C1464G:p.D488E;	5.35958757780818E-4	0.214
18	2700733	C	T	18	2700735	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon12:c.C1464T:p.D488D;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.C1464T:p.D488D;ENSG00000101596:ENST00000261598:exon12:c.C1464T:p.D488D;	0.00879390428393128	0.244
18	2700734	T	A	18	2700736	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.T1465A:p.F489I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.T1465A:p.F489I;ENSG00000101596:ENST00000261598:exon12:c.T1465A:p.F489I;	0.0899862244773005	0.372
18	2700734	T	C	18	2700736	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.T1465C:p.F489L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.T1465C:p.F489L;ENSG00000101596:ENST00000261598:exon12:c.T1465C:p.F489L;	0.0016499075547742	0.096
18	2700734	T	G	18	2700736	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.T1465G:p.F489V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.T1465G:p.F489V;ENSG00000101596:ENST00000261598:exon12:c.T1465G:p.F489V;	0.0657341289647021	0.388
18	2700914	C	A	18	2700916	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.C1645A:p.Q549K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.C1645A:p.Q549K;ENSG00000101596:ENST00000577880:exon1:c.C58A:p.Q20K;ENSG00000101596:ENST00000261598:exon12:c.C1645A:p.Q549K;	0.0384257320836854	0.226
18	2700914	C	G	18	2700916	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.C1645G:p.Q549E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.C1645G:p.Q549E;ENSG00000101596:ENST00000577880:exon1:c.C58G:p.Q20E;ENSG00000101596:ENST00000261598:exon12:c.C1645G:p.Q549E;	0.0533627468632434	0.188
18	2700914	C	T	18	2700916	y	n	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon12:c.C1645T:p.Q549X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon12:c.C1645T:p.Q549X;ENSG00000101596:ENST00000577880:exon1:c.C58T:p.Q20X;ENSG00000101596:ENST00000261598:exon12:c.C1645T:p.Q549X;	0.999442964890857	0.966
18	2700915	A	C	18	2700917	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.A1646C:p.Q549P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.A1646C:p.Q549P;ENSG00000101596:ENST00000577880:exon1:c.A59C:p.Q20P;ENSG00000101596:ENST00000261598:exon12:c.A1646C:p.Q549P;	0.961845111048635	0.786
18	2700915	A	G	18	2700917	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.A1646G:p.Q549R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.A1646G:p.Q549R;ENSG00000101596:ENST00000577880:exon1:c.A59G:p.Q20R;ENSG00000101596:ENST00000261598:exon12:c.A1646G:p.Q549R;	0.784725027203912	0.75
18	2700915	A	T	18	2700917	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.A1646T:p.Q549L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.A1646T:p.Q549L;ENSG00000101596:ENST00000577880:exon1:c.A59T:p.Q20L;ENSG00000101596:ENST00000261598:exon12:c.A1646T:p.Q549L;	0.996210837336638	0.952
18	2700916	G	A	18	2700918	y	n	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon12:c.G1647A:p.Q549Q;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.G1647A:p.Q549Q;ENSG00000101596:ENST00000577880:exon1:c.G60A:p.Q20Q;ENSG00000101596:ENST00000261598:exon12:c.G1647A:p.Q549Q;	0.999850521388106	0.984
18	2700916	G	C	18	2700918	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.G1647C:p.Q549H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.G1647C:p.Q549H;ENSG00000101596:ENST00000577880:exon1:c.G60C:p.Q20H;ENSG00000101596:ENST00000261598:exon12:c.G1647C:p.Q549H;	0.999964627737583	0.982
18	2700916	G	T	18	2700918	y	n	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon12:c.G1647T:p.Q549H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon12:c.G1647T:p.Q549H;ENSG00000101596:ENST00000577880:exon1:c.G60T:p.Q20H;ENSG00000101596:ENST00000261598:exon12:c.G1647T:p.Q549H;	0.999881160067967	0.986
18	2700917	G	A	18	2700919	y	n	splicing	SMCHD1(NM_015295:exon12:c.1647+1G>A)	.	.	exonic;splicing	ENSG00000101596;ENSG00000101596(ENST00000320876:exon12:c.1647+1G>A;ENST00000261598:exon12:c.1647+1G>A;ENST00000577880:exon1:c.60+1G>A)	unknown	UNKNOWN	0.999938422912956	0.948
18	2700917	G	C	18	2700919	y	n	splicing	SMCHD1(NM_015295:exon12:c.1647+1G>C)	.	.	exonic;splicing	ENSG00000101596;ENSG00000101596(ENST00000320876:exon12:c.1647+1G>C;ENST00000261598:exon12:c.1647+1G>C;ENST00000577880:exon1:c.60+1G>C)	unknown	UNKNOWN	0.999938990645747	0.948
18	2700917	G	T	18	2700919	y	n	splicing	SMCHD1(NM_015295:exon12:c.1647+1G>T)	.	.	exonic;splicing	ENSG00000101596;ENSG00000101596(ENST00000320876:exon12:c.1647+1G>T;ENST00000261598:exon12:c.1647+1G>T;ENST00000577880:exon1:c.60+1G>T)	unknown	UNKNOWN	0.999938422912956	0.948
18	2700918	T	A	18	2700920	y	n	splicing	SMCHD1(NM_015295:exon12:c.1647+2T>A)	.	.	exonic;splicing	ENSG00000101596;ENSG00000101596(ENST00000320876:exon12:c.1647+2T>A;ENST00000261598:exon12:c.1647+2T>A;ENST00000577880:exon1:c.60+2T>A)	unknown	UNKNOWN	0.999982151912279	0.884
18	2700918	T	C	18	2700920	y	n	splicing	SMCHD1(NM_015295:exon12:c.1647+2T>C)	.	.	exonic;splicing	ENSG00000101596;ENSG00000101596(ENST00000320876:exon12:c.1647+2T>C;ENST00000261598:exon12:c.1647+2T>C;ENST00000577880:exon1:c.60+2T>C)	unknown	UNKNOWN	0.969498698802381	0.574
18	2700918	T	G	18	2700920	y	n	splicing	SMCHD1(NM_015295:exon12:c.1647+2T>G)	.	.	exonic;splicing	ENSG00000101596;ENSG00000101596(ENST00000320876:exon12:c.1647+2T>G;ENST00000261598:exon12:c.1647+2T>G;ENST00000577880:exon1:c.60+2T>G)	unknown	UNKNOWN	0.999972155025474	0.866
18	2700919	A	C	18	2700921	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	0.996553094074208	0.732
18	2700919	A	G	18	2700921	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	0.990371292786043	0.656
18	2700919	A	T	18	2700921	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	0.998767786316475	0.768
18	2700920	T	A	18	2700922	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	9.33959627248247E-5	0.126
18	2700920	T	C	18	2700922	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	1.74556760730098E-4	0.04
18	2700920	T	G	18	2700922	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	6.78268196398199E-5	0.058
18	2700921	G	A	18	2700923	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	0.56606717600971	0.4
18	2700921	G	C	18	2700923	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	0.970812607864955	0.464
18	2700921	G	T	18	2700923	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	0.9424411491769	0.462
18	2700922	A	C	18	2700924	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	5.61277854800603E-5	0.126
18	2700922	A	G	18	2700924	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	3.01219917164441E-5	0.076
18	2700922	A	T	18	2700924	y	n	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	1.15653475274627E-5	0.012
18	2700923	T	A	18	2700925	y	n	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	4.83788744528273E-5	0.002
18	2700923	T	C	18	2700925	y	n	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.06120634547253E-4	0.0
18	2700923	T	G	18	2700925	y	n	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	8.65778582306901E-5	0.0
18	2700924	T	A	18	2700926	y	n	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.3679303484631E-5	0.0
18	2700924	T	C	18	2700926	y	n	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.36411379079871E-5	0.0
18	2700924	T	G	18	2700926	y	n	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.3679303484631E-5	0.0
18	2701251	C	A	18	2701253	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.20590404879984E-5	0.004
18	2701251	C	G	18	2701253	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.20590404879984E-5	0.004
18	2701251	C	T	18	2701253	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.20590404879984E-5	0.004
18	2701252	A	C	18	2701254	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.45277156108894E-5	0.0
18	2701252	A	G	18	2701254	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.45277156108894E-5	0.0
18	2701252	A	T	18	2701254	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	3.78864525412067E-5	0.0
18	2701253	G	A	18	2701255	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.26718658278921E-5	0.002
18	2701253	G	C	18	2701255	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.26718658278921E-5	0.002
18	2701253	G	T	18	2701255	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.26718658278921E-5	0.002
18	2701254	G	A	18	2701256	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon1:c.479+1G>A)	.	.	1.37501361942679E-5	0.002
18	2701254	G	C	18	2701256	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon1:c.479+1G>C)	.	.	8.90177193295887E-6	0.018
18	2701254	G	T	18	2701256	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon1:c.479+1G>T)	.	.	1.37501361942679E-5	0.002
18	2701255	T	A	18	2701257	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon1:c.479+2T>A)	.	.	1.37501361942679E-5	0.002
18	2701255	T	C	18	2701257	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon1:c.479+2T>C)	.	.	1.37501361942679E-5	0.002
18	2701255	T	G	18	2701257	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon1:c.479+2T>G)	.	.	1.37501361942679E-5	0.002
18	2701256	T	A	18	2701258	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.016
18	2701256	T	C	18	2701258	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.016
18	2701256	T	G	18	2701258	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.016
18	2701257	C	A	18	2701259	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2701257	C	G	18	2701259	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.018
18	2701257	C	T	18	2701259	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.014
18	2701258	A	C	18	2701260	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.012
18	2701258	A	G	18	2701260	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.012
18	2701258	A	T	18	2701260	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.012
18	2701259	A	C	18	2701261	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.012
18	2701259	A	G	18	2701261	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.012
18	2701259	A	T	18	2701261	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.012
18	2701260	G	A	18	2701262	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.45277156108894E-5	0.004
18	2701260	G	C	18	2701262	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.45277156108894E-5	0.002
18	2701260	G	T	18	2701262	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.45277156108894E-5	0.004
18	2701261	C	A	18	2701263	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2701261	C	G	18	2701263	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.018
18	2701261	C	T	18	2701263	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.014
18	2702203	G	A	18	2702205	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.016
18	2702203	G	C	18	2702205	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.024
18	2702203	G	T	18	2702205	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.036
18	2702204	C	A	18	2702206	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.90177193295887E-6	0.0
18	2702204	C	G	18	2702206	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.90177193295887E-6	0.0
18	2702204	C	T	18	2702206	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.90177193295887E-6	0.002
18	2702205	T	A	18	2702207	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.014
18	2702205	T	C	18	2702207	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.014
18	2702205	T	G	18	2702207	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.014
18	2702206	A	C	18	2702208	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.006
18	2702206	A	G	18	2702208	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.01
18	2702206	A	T	18	2702208	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.58927937202005E-5	0.004
18	2702207	C	A	18	2702209	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.45277156108894E-5	0.0
18	2702207	C	G	18	2702209	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.33833472525359E-5	0.006
18	2702207	C	T	18	2702209	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.45277156108894E-5	0.0
18	2702208	T	A	18	2702210	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.004
18	2702208	T	C	18	2702210	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.004
18	2702208	T	G	18	2702210	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.004
18	2702209	T	A	18	2702211	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.016
18	2702209	T	C	18	2702211	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2702209	T	G	18	2702211	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.022
18	2702210	G	A	18	2702212	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2702210	G	C	18	2702212	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2702210	G	T	18	2702212	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2702211	A	C	18	2702213	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.95241758590049E-5	0.0
18	2702211	A	G	18	2702213	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.95241758590049E-5	0.0
18	2702211	A	T	18	2702213	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.95241758590049E-5	0.0
18	2702212	G	A	18	2702214	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2702212	G	C	18	2702214	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2702212	G	T	18	2702214	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.19654958573966E-5	0.02
18	2702213	A	C	18	2702215	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon2:c.480-2A>C)	.	.	1.58927937202005E-5	0.004
18	2702213	A	G	18	2702215	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon2:c.480-2A>G)	.	.	1.58927937202005E-5	0.004
18	2702213	A	T	18	2702215	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon2:c.480-2A>T)	.	.	1.58927937202005E-5	0.004
18	2702214	G	A	18	2702216	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon2:c.480-1G>A)	.	.	2.27163650926202E-4	0.022
18	2702214	G	C	18	2702216	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon2:c.480-1G>C)	.	.	9.57123356397867E-5	0.016
18	2702214	G	T	18	2702216	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000585229:exon2:c.480-1G>T)	.	.	9.57123356397867E-5	0.018
18	2702215	G	A	18	2702217	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	9.57123356397867E-5	0.016
18	2702215	G	C	18	2702217	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	6.19654958573966E-5	0.016
18	2702215	G	T	18	2702217	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	9.57123356397867E-5	0.016
18	2702216	C	A	18	2702218	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	9.57123356397867E-5	0.018
18	2702216	C	G	18	2702218	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	6.19654958573966E-5	0.016
18	2702216	C	T	18	2702218	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	9.57123356397867E-5	0.016
18	2703678	A	C	18	2703680	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.67944982512943E-5	0.0
18	2703678	A	G	18	2703680	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.23644830717779E-5	0.016
18	2703678	A	T	18	2703680	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.58645906776164E-5	0.0
18	2703679	A	C	18	2703681	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.08300022337406E-5	0.038
18	2703679	A	G	18	2703681	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997654761668899	0.976
18	2703679	A	T	18	2703681	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.32844594490864E-4	0.136
18	2703680	A	C	18	2703682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.08280576944273E-5	0.002
18	2703680	A	G	18	2703682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.976156241729258	0.91
18	2703680	A	T	18	2703682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.04593158429987E-5	0.002
18	2703681	A	C	18	2703683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.27899182702214E-5	0.004
18	2703681	A	G	18	2703683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998735388248947	0.954
18	2703681	A	T	18	2703683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.47118743812139E-5	0.028
18	2703682	T	A	18	2703684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0772199025551007	0.322
18	2703682	T	C	18	2703684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.10683072774012E-5	0.024
18	2703682	T	G	18	2703684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999895683476473	0.98
18	2703683	T	A	18	2703685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.522288422533803	0.46
18	2703683	T	C	18	2703685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.00176283091152E-4	0.046
18	2703683	T	G	18	2703685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.655992066067449	0.484
18	2703684	C	A	18	2703686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00655928767682646	0.304
18	2703684	C	G	18	2703686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0189172906638875	0.318
18	2703684	C	T	18	2703686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.98826286040463E-5	0.014
18	2703685	T	A	18	2703687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.386646921226651	0.54
18	2703685	T	C	18	2703687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00184447665404876	0.16
18	2703685	T	G	18	2703687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.899044802730463	0.574
18	2703686	A	C	18	2703688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.1276548043088E-5	0.116
18	2703686	A	G	18	2703688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.66922622450206E-4	0.084
18	2703686	A	T	18	2703688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.5519810415835E-4	0.098
18	2703687	C	A	18	2703689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.987012982111613	0.768
18	2703687	C	G	18	2703689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.9994357800137	0.738
18	2703687	C	T	18	2703689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00191857726785538	0.128
18	2703688	A	C	18	2703690	y	y	splicing	SMCHD1(NM_015295:exon13:c.1648-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1648-2A>C;ENST00000261598:exon13:c.1648-2A>C;ENST00000577880:exon2:c.61-2A>C)	.	.	0.999977724223796	0.814
18	2703688	A	G	18	2703690	y	y	splicing	SMCHD1(NM_015295:exon13:c.1648-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1648-2A>G;ENST00000261598:exon13:c.1648-2A>G;ENST00000577880:exon2:c.61-2A>G)	.	.	0.999977724223796	0.814
18	2703688	A	T	18	2703690	y	y	splicing	SMCHD1(NM_015295:exon13:c.1648-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1648-2A>T;ENST00000261598:exon13:c.1648-2A>T;ENST00000577880:exon2:c.61-2A>T)	.	.	0.99995820954749	0.824
18	2703689	G	A	18	2703691	y	y	splicing	SMCHD1(NM_015295:exon13:c.1648-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1648-1G>A;ENST00000261598:exon13:c.1648-1G>A;ENST00000577880:exon2:c.61-1G>A)	.	.	0.999980045018896	0.79
18	2703689	G	C	18	2703691	y	y	splicing	SMCHD1(NM_015295:exon13:c.1648-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1648-1G>C;ENST00000261598:exon13:c.1648-1G>C;ENST00000577880:exon2:c.61-1G>C)	.	.	0.999972204810628	0.794
18	2703689	G	T	18	2703691	y	y	splicing	SMCHD1(NM_015295:exon13:c.1648-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1648-1G>T;ENST00000261598:exon13:c.1648-1G>T;ENST00000577880:exon2:c.61-1G>T)	.	.	0.999972204810628	0.792
18	2703690	G	A	18	2703692	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.G1648A:p.E550K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.G1648A:p.E550K;ENSG00000101596:ENST00000577880:exon2:c.G61A:p.E21K;ENSG00000101596:ENST00000261598:exon13:c.G1648A:p.E550K;	0.750680847220475	0.566
18	2703690	G	C	18	2703692	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.G1648C:p.E550Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.G1648C:p.E550Q;ENSG00000101596:ENST00000577880:exon2:c.G61C:p.E21Q;ENSG00000101596:ENST00000261598:exon13:c.G1648C:p.E550Q;	0.758001550728312	0.556
18	2703690	G	T	18	2703692	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon13:c.G1648T:p.E550X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon13:c.G1648T:p.E550X;ENSG00000101596:ENST00000577880:exon2:c.G61T:p.E21X;ENSG00000101596:ENST00000261598:exon13:c.G1648T:p.E550X;	0.99989777482678	0.988
18	2703691	A	C	18	2703693	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.A1649C:p.E550A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.A1649C:p.E550A;ENSG00000101596:ENST00000577880:exon2:c.A62C:p.E21A;ENSG00000101596:ENST00000261598:exon13:c.A1649C:p.E550A;	3.17408292908575E-4	0.068
18	2703691	A	G	18	2703693	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.A1649G:p.E550G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.A1649G:p.E550G;ENSG00000101596:ENST00000577880:exon2:c.A62G:p.E21G;ENSG00000101596:ENST00000261598:exon13:c.A1649G:p.E550G;	7.60519750815692E-4	0.038
18	2703691	A	T	18	2703693	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.A1649T:p.E550V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.A1649T:p.E550V;ENSG00000101596:ENST00000577880:exon2:c.A62T:p.E21V;ENSG00000101596:ENST00000261598:exon13:c.A1649T:p.E550V;	3.4175350215145E-4	0.034
18	2703882	C	A	18	2703884	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.C1840A:p.L614M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.C1840A:p.L614M;ENSG00000101596:ENST00000577880:exon2:c.C253A:p.L85M;ENSG00000101596:ENST00000261598:exon13:c.C1840A:p.L614M;	3.66054095982406E-4	0.066
18	2703882	C	G	18	2703884	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.C1840G:p.L614V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.C1840G:p.L614V;ENSG00000101596:ENST00000577880:exon2:c.C253G:p.L85V;ENSG00000101596:ENST00000261598:exon13:c.C1840G:p.L614V;	0.0068936202077136	0.102
18	2703882	C	T	18	2703884	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon13:c.C1840T:p.L614L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.C1840T:p.L614L;ENSG00000101596:ENST00000577880:exon2:c.C253T:p.L85L;ENSG00000101596:ENST00000261598:exon13:c.C1840T:p.L614L;	0.0710985029848659	0.404
18	2703883	T	A	18	2703885	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.T1841A:p.L614Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.T1841A:p.L614Q;ENSG00000101596:ENST00000577880:exon2:c.T254A:p.L85Q;ENSG00000101596:ENST00000261598:exon13:c.T1841A:p.L614Q;	0.001751102001365	0.114
18	2703883	T	C	18	2703885	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.T1841C:p.L614P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.T1841C:p.L614P;ENSG00000101596:ENST00000577880:exon2:c.T254C:p.L85P;ENSG00000101596:ENST00000261598:exon13:c.T1841C:p.L614P;	0.00870922580761526	0.174
18	2703883	T	G	18	2703885	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon13:c.T1841G:p.L614R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.T1841G:p.L614R;ENSG00000101596:ENST00000577880:exon2:c.T254G:p.L85R;ENSG00000101596:ENST00000261598:exon13:c.T1841G:p.L614R;	0.0170837875195874	0.224
18	2703884	G	A	18	2703886	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon13:c.G1842A:p.L614L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.G1842A:p.L614L;ENSG00000101596:ENST00000577880:exon2:c.G255A:p.L85L;ENSG00000101596:ENST00000261598:exon13:c.G1842A:p.L614L;	0.999954451442583	1.0
18	2703884	G	C	18	2703886	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon13:c.G1842C:p.L614L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.G1842C:p.L614L;ENSG00000101596:ENST00000577880:exon2:c.G255C:p.L85L;ENSG00000101596:ENST00000261598:exon13:c.G1842C:p.L614L;	0.999990813510453	0.972
18	2703884	G	T	18	2703886	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon13:c.G1842T:p.L614L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon13:c.G1842T:p.L614L;ENSG00000101596:ENST00000577880:exon2:c.G255T:p.L85L;ENSG00000101596:ENST00000261598:exon13:c.G1842T:p.L614L;	0.999918347629088	0.994
18	2703885	G	A	18	2703887	y	y	splicing	SMCHD1(NM_015295:exon13:c.1842+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1842+1G>A;ENST00000261598:exon13:c.1842+1G>A;ENST00000577880:exon2:c.255+1G>A)	.	.	0.999989072007339	0.95
18	2703885	G	C	18	2703887	y	y	splicing	SMCHD1(NM_015295:exon13:c.1842+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1842+1G>C;ENST00000261598:exon13:c.1842+1G>C;ENST00000577880:exon2:c.255+1G>C)	.	.	0.999989072007339	0.95
18	2703885	G	T	18	2703887	y	y	splicing	SMCHD1(NM_015295:exon13:c.1842+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1842+1G>T;ENST00000261598:exon13:c.1842+1G>T;ENST00000577880:exon2:c.255+1G>T)	.	.	0.999989072007339	0.95
18	2703886	T	A	18	2703888	y	y	splicing	SMCHD1(NM_015295:exon13:c.1842+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1842+2T>A;ENST00000261598:exon13:c.1842+2T>A;ENST00000577880:exon2:c.255+2T>A)	.	.	0.999988247793601	0.946
18	2703886	T	C	18	2703888	y	y	splicing	SMCHD1(NM_015295:exon13:c.1842+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1842+2T>C;ENST00000261598:exon13:c.1842+2T>C;ENST00000577880:exon2:c.255+2T>C)	.	.	0.986973409415639	0.67
18	2703886	T	G	18	2703888	y	y	splicing	SMCHD1(NM_015295:exon13:c.1842+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon13:c.1842+2T>G;ENST00000261598:exon13:c.1842+2T>G;ENST00000577880:exon2:c.255+2T>G)	.	.	0.999988247793601	0.946
18	2703887	A	C	18	2703889	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.993232013168075	0.782
18	2703887	A	G	18	2703889	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.839036757933412	0.786
18	2703887	A	T	18	2703889	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.994644362266569	0.924
18	2703888	G	A	18	2703890	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.16154024689715E-4	0.086
18	2703888	G	C	18	2703890	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.35710465901197E-4	0.042
18	2703888	G	T	18	2703890	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68947996993237E-4	0.036
18	2703889	G	A	18	2703891	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999986174380179	0.998
18	2703889	G	C	18	2703891	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999971980271774	0.976
18	2703889	G	T	18	2703891	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999987735709838	0.976
18	2703890	T	A	18	2703892	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0435094985656839	0.142
18	2703890	T	C	18	2703892	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0281112368337458	0.208
18	2703890	T	G	18	2703892	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0189098281897855	0.24
18	2703891	T	A	18	2703893	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.40491660611317E-5	0.034
18	2703891	T	C	18	2703893	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.40491660611317E-5	0.034
18	2703891	T	G	18	2703893	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.38067689797264E-5	0.038
18	2703892	T	A	18	2703894	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.9496613477227E-4	0.084
18	2703892	T	C	18	2703894	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.22308160246672E-5	0.0
18	2703892	T	G	18	2703894	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.55874969939401E-4	0.042
18	2705680	A	C	18	2705682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.34120207636331E-4	0.048
18	2705680	A	G	18	2705682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998828347258117	0.976
18	2705680	A	T	18	2705682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.59603795815009E-4	0.146
18	2705681	C	A	18	2705683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.3757483627582E-5	0.156
18	2705681	C	G	18	2705683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.908265227165015	0.846
18	2705681	C	T	18	2705683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.14187967125527E-5	0.022
18	2705682	T	A	18	2705684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0154680160227772	0.302
18	2705682	T	C	18	2705684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.47948252282146E-4	0.084
18	2705682	T	G	18	2705684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00880262083983794	0.364
18	2705683	A	C	18	2705685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.46798659997687E-5	0.016
18	2705683	A	G	18	2705685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.56185429165968E-5	0.022
18	2705683	A	T	18	2705685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.80428593502115E-5	0.014
18	2705684	A	C	18	2705686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.24951283331674E-4	0.02
18	2705684	A	G	18	2705686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998889921173201	0.956
18	2705684	A	T	18	2705686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.98936914715101E-4	0.06
18	2705685	A	C	18	2705687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.65096955710674E-5	0.006
18	2705685	A	G	18	2705687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.910659329877345	0.908
18	2705685	A	T	18	2705687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.0291873933743E-5	0.026
18	2705686	T	A	18	2705688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00406571824106257	0.382
18	2705686	T	C	18	2705688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.08974058263634E-4	0.024
18	2705686	T	G	18	2705688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999833467784387	0.952
18	2705687	A	C	18	2705689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.63795082004588E-5	0.038
18	2705687	A	G	18	2705689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.76208738305319E-5	0.028
18	2705687	A	T	18	2705689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.05204626390039E-4	0.12
18	2705688	T	A	18	2705690	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.08478700227543E-4	0.004
18	2705688	T	C	18	2705690	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.31495466230925E-5	0.036
18	2705688	T	G	18	2705690	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998137237694789	0.99
18	2705689	T	A	18	2705691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.662836368490507	0.462
18	2705689	T	C	18	2705691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.91381649881095E-4	0.062
18	2705689	T	G	18	2705691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.940388248235203	0.584
18	2705690	A	C	18	2705692	y	y	splicing	SMCHD1(NM_015295:exon14:c.1843-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1843-2A>C;ENST00000261598:exon14:c.1843-2A>C;ENST00000577880:exon3:c.256-2A>C)	.	.	0.999871123278468	0.872
18	2705690	A	G	18	2705692	y	y	splicing	SMCHD1(NM_015295:exon14:c.1843-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1843-2A>G;ENST00000261598:exon14:c.1843-2A>G;ENST00000577880:exon3:c.256-2A>G)	.	.	0.999871123278468	0.872
18	2705690	A	T	18	2705692	y	y	splicing	SMCHD1(NM_015295:exon14:c.1843-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1843-2A>T;ENST00000261598:exon14:c.1843-2A>T;ENST00000577880:exon3:c.256-2A>T)	.	.	0.999758624979273	0.878
18	2705691	G	A	18	2705693	y	y	splicing	SMCHD1(NM_015295:exon14:c.1843-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1843-1G>A;ENST00000261598:exon14:c.1843-1G>A;ENST00000577880:exon3:c.256-1G>A)	.	.	0.999968774548186	0.84
18	2705691	G	C	18	2705693	y	y	splicing	SMCHD1(NM_015295:exon14:c.1843-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1843-1G>C;ENST00000261598:exon14:c.1843-1G>C;ENST00000577880:exon3:c.256-1G>C)	.	.	0.999968774548186	0.846
18	2705691	G	T	18	2705693	y	y	splicing	SMCHD1(NM_015295:exon14:c.1843-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1843-1G>T;ENST00000261598:exon14:c.1843-1G>T;ENST00000577880:exon3:c.256-1G>T)	.	.	0.999968774548186	0.844
18	2705692	G	A	18	2705694	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.G1843A:p.V615I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.G1843A:p.V615I;ENSG00000101596:ENST00000577880:exon3:c.G256A:p.V86I;ENSG00000101596:ENST00000261598:exon14:c.G1843A:p.V615I;	0.998633422569488	0.75
18	2705692	G	C	18	2705694	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.G1843C:p.V615L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.G1843C:p.V615L;ENSG00000101596:ENST00000577880:exon3:c.G256C:p.V86L;ENSG00000101596:ENST00000261598:exon14:c.G1843C:p.V615L;	0.99977883285417	0.806
18	2705692	G	T	18	2705694	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.G1843T:p.V615F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.G1843T:p.V615F;ENSG00000101596:ENST00000577880:exon3:c.G256T:p.V86F;ENSG00000101596:ENST00000261598:exon14:c.G1843T:p.V615F;	0.999408695013145	0.874
18	2705693	T	A	18	2705695	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.T1844A:p.V615D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.T1844A:p.V615D;ENSG00000101596:ENST00000577880:exon3:c.T257A:p.V86D;ENSG00000101596:ENST00000261598:exon14:c.T1844A:p.V615D;	0.0190265314497963	0.114
18	2705693	T	C	18	2705695	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.T1844C:p.V615A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.T1844C:p.V615A;ENSG00000101596:ENST00000577880:exon3:c.T257C:p.V86A;ENSG00000101596:ENST00000261598:exon14:c.T1844C:p.V615A;	0.0651262598303373	0.22
18	2705693	T	G	18	2705695	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.T1844G:p.V615G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.T1844G:p.V615G;ENSG00000101596:ENST00000577880:exon3:c.T257G:p.V86G;ENSG00000101596:ENST00000261598:exon14:c.T1844G:p.V615G;	0.0114297840906456	0.144
18	2705803	A	C	18	2705805	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.A1954C:p.M652L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.A1954C:p.M652L;ENSG00000101596:ENST00000577880:exon3:c.A367C:p.M123L;ENSG00000101596:ENST00000261598:exon14:c.A1954C:p.M652L;	3.02461991823349E-5	0.026
18	2705803	A	G	18	2705805	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.A1954G:p.M652V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.A1954G:p.M652V;ENSG00000101596:ENST00000577880:exon3:c.A367G:p.M123V;ENSG00000101596:ENST00000261598:exon14:c.A1954G:p.M652V;	8.08821251120485E-5	0.002
18	2705803	A	T	18	2705805	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.A1954T:p.M652L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.A1954T:p.M652L;ENSG00000101596:ENST00000577880:exon3:c.A367T:p.M123L;ENSG00000101596:ENST00000261598:exon14:c.A1954T:p.M652L;	5.88160162752309E-4	0.102
18	2705804	T	A	18	2705806	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.T1955A:p.M652K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.T1955A:p.M652K;ENSG00000101596:ENST00000577880:exon3:c.T368A:p.M123K;ENSG00000101596:ENST00000261598:exon14:c.T1955A:p.M652K;	0.00380189387654466	0.072
18	2705804	T	C	18	2705806	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.T1955C:p.M652T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.T1955C:p.M652T;ENSG00000101596:ENST00000577880:exon3:c.T368C:p.M123T;ENSG00000101596:ENST00000261598:exon14:c.T1955C:p.M652T;	0.0133933326072281	0.102
18	2705804	T	G	18	2705806	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.T1955G:p.M652R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.T1955G:p.M652R;ENSG00000101596:ENST00000577880:exon3:c.T368G:p.M123R;ENSG00000101596:ENST00000261598:exon14:c.T1955G:p.M652R;	0.00671171219774101	0.116
18	2705805	G	A	18	2705807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.G1956A:p.M652I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.G1956A:p.M652I;ENSG00000101596:ENST00000577880:exon3:c.G369A:p.M123I;ENSG00000101596:ENST00000261598:exon14:c.G1956A:p.M652I;	0.999918349046016	0.974
18	2705805	G	C	18	2705807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.G1956C:p.M652I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.G1956C:p.M652I;ENSG00000101596:ENST00000577880:exon3:c.G369C:p.M123I;ENSG00000101596:ENST00000261598:exon14:c.G1956C:p.M652I;	0.999883825413434	0.93
18	2705805	G	T	18	2705807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon14:c.G1956T:p.M652I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon14:c.G1956T:p.M652I;ENSG00000101596:ENST00000577880:exon3:c.G369T:p.M123I;ENSG00000101596:ENST00000261598:exon14:c.G1956T:p.M652I;	0.999950507431755	0.996
18	2705806	G	A	18	2705808	y	y	splicing	SMCHD1(NM_015295:exon14:c.1956+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1956+1G>A;ENST00000261598:exon14:c.1956+1G>A;ENST00000577880:exon3:c.369+1G>A)	.	.	0.999989072007339	0.932
18	2705806	G	C	18	2705808	y	y	splicing	SMCHD1(NM_015295:exon14:c.1956+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1956+1G>C;ENST00000261598:exon14:c.1956+1G>C;ENST00000577880:exon3:c.369+1G>C)	.	.	0.999989072007339	0.932
18	2705806	G	T	18	2705808	y	y	splicing	SMCHD1(NM_015295:exon14:c.1956+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1956+1G>T;ENST00000261598:exon14:c.1956+1G>T;ENST00000577880:exon3:c.369+1G>T)	.	.	0.999989072007339	0.932
18	2705807	T	A	18	2705809	y	y	splicing	SMCHD1(NM_015295:exon14:c.1956+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1956+2T>A;ENST00000261598:exon14:c.1956+2T>A;ENST00000577880:exon3:c.369+2T>A)	.	.	0.999988247793601	0.88
18	2705807	T	C	18	2705809	y	y	splicing	SMCHD1(NM_015295:exon14:c.1956+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1956+2T>C;ENST00000261598:exon14:c.1956+2T>C;ENST00000577880:exon3:c.369+2T>C)	.	.	0.999931547473318	0.89
18	2705807	T	G	18	2705809	y	y	splicing	SMCHD1(NM_015295:exon14:c.1956+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon14:c.1956+2T>G;ENST00000261598:exon14:c.1956+2T>G;ENST00000577880:exon3:c.369+2T>G)	.	.	0.999988247793601	0.93
18	2705808	A	C	18	2705810	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997698873716655	0.798
18	2705808	A	G	18	2705810	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.745496912493747	0.486
18	2705808	A	T	18	2705810	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997405995232012	0.902
18	2705809	A	C	18	2705811	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.752753901840295	0.444
18	2705809	A	G	18	2705811	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.94342574677411	0.636
18	2705809	A	T	18	2705811	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.78548212694242	0.614
18	2705810	G	A	18	2705812	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999666135489664	0.876
18	2705810	G	C	18	2705812	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999688365729922	0.888
18	2705810	G	T	18	2705812	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99922311397208	0.876
18	2705811	A	C	18	2705813	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.10043594124541E-4	0.01
18	2705811	A	G	18	2705813	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.47421366433074E-4	0.0
18	2705811	A	T	18	2705813	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.01328438812978E-4	0.006
18	2705812	C	A	18	2705814	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.3427982531725E-5	0.0
18	2705812	C	G	18	2705814	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.27389687882311E-5	0.002
18	2705812	C	T	18	2705814	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.35857241577815E-4	0.004
18	2705813	A	C	18	2705815	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.73958162046212E-5	0.0
18	2705813	A	G	18	2705815	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.5987257889541E-5	0.0
18	2705813	A	T	18	2705815	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.85096237301136E-5	0.0
18	2706350	G	A	18	2706352	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.6485494701145E-4	0.052
18	2706350	G	C	18	2706352	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.26032563829687E-6	0.0
18	2706350	G	T	18	2706352	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.13055622037723E-6	0.028
18	2706351	T	A	18	2706353	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.927753375104495	0.624
18	2706351	T	C	18	2706353	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0383608443893577	0.336
18	2706351	T	G	18	2706353	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.904441075198305	0.556
18	2706352	A	C	18	2706354	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.37583047514653E-5	0.018
18	2706352	A	G	18	2706354	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.82163534725239E-5	0.03
18	2706352	A	T	18	2706354	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.76294831486095E-5	0.054
18	2706353	T	A	18	2706355	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0620354955794789	0.374
18	2706353	T	C	18	2706355	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.07289863220182E-4	0.076
18	2706353	T	G	18	2706355	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999843565500087	0.978
18	2706354	T	A	18	2706356	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.317221796865482	0.35
18	2706354	T	C	18	2706356	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.16558224103107E-4	0.054
18	2706354	T	G	18	2706356	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.134398389345329	0.306
18	2706355	T	A	18	2706357	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0233490074440854	0.174
18	2706355	T	C	18	2706357	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.43781010823239E-4	0.044
18	2706355	T	G	18	2706357	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0318007289356558	0.182
18	2706356	A	C	18	2706358	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.23409240624921E-4	0.016
18	2706356	A	G	18	2706358	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.88754032803883E-4	0.018
18	2706356	A	T	18	2706358	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.68864314395462E-4	0.036
18	2706357	T	A	18	2706359	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.685820841177997	0.578
18	2706357	T	C	18	2706359	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0170634475939964	0.182
18	2706357	T	G	18	2706359	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999966735096476	0.972
18	2706358	T	A	18	2706360	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00160791643011004	0.008
18	2706358	T	C	18	2706360	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.61829514801107E-4	0.02
18	2706358	T	G	18	2706360	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00152382868086055	0.062
18	2706359	C	A	18	2706361	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.408718842502539	0.644
18	2706359	C	G	18	2706361	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997806033430569	0.776
18	2706359	C	T	18	2706361	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.09227231529559E-4	0.142
18	2706360	A	C	18	2706362	y	y	splicing	SMCHD1(NM_015295:exon15:c.1957-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.1957-2A>C;ENST00000261598:exon15:c.1957-2A>C;ENST00000577880:exon4:c.370-2A>C)	.	.	0.999979574972346	0.82
18	2706360	A	G	18	2706362	y	y	splicing	SMCHD1(NM_015295:exon15:c.1957-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.1957-2A>G;ENST00000261598:exon15:c.1957-2A>G;ENST00000577880:exon4:c.370-2A>G)	.	.	0.999979574972346	0.82
18	2706360	A	T	18	2706362	y	y	splicing	SMCHD1(NM_015295:exon15:c.1957-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.1957-2A>T;ENST00000261598:exon15:c.1957-2A>T;ENST00000577880:exon4:c.370-2A>T)	.	.	0.999979574972346	0.862
18	2706361	G	A	18	2706363	y	y	splicing	SMCHD1(NM_015295:exon15:c.1957-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.1957-1G>A;ENST00000261598:exon15:c.1957-1G>A;ENST00000577880:exon4:c.370-1G>A)	.	.	0.99996777076698	0.886
18	2706361	G	C	18	2706363	y	y	splicing	SMCHD1(NM_015295:exon15:c.1957-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.1957-1G>C;ENST00000261598:exon15:c.1957-1G>C;ENST00000577880:exon4:c.370-1G>C)	.	.	0.999961169273967	0.876
18	2706361	G	T	18	2706363	y	y	splicing	SMCHD1(NM_015295:exon15:c.1957-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.1957-1G>T;ENST00000261598:exon15:c.1957-1G>T;ENST00000577880:exon4:c.370-1G>T)	.	.	0.99996777076698	0.878
18	2706362	G	A	18	2706364	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.G1957A:p.E653K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.G1957A:p.E653K;ENSG00000101596:ENST00000577880:exon4:c.G370A:p.E124K;ENSG00000101596:ENST00000261598:exon15:c.G1957A:p.E653K;	0.940552873039443	0.67
18	2706362	G	C	18	2706364	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.G1957C:p.E653Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.G1957C:p.E653Q;ENSG00000101596:ENST00000577880:exon4:c.G370C:p.E124Q;ENSG00000101596:ENST00000261598:exon15:c.G1957C:p.E653Q;	0.984681207867652	0.746
18	2706362	G	T	18	2706364	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon15:c.G1957T:p.E653X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon15:c.G1957T:p.E653X;ENSG00000101596:ENST00000577880:exon4:c.G370T:p.E124X;ENSG00000101596:ENST00000261598:exon15:c.G1957T:p.E653X;	0.999713448458814	0.96
18	2706363	A	C	18	2706365	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.A1958C:p.E653A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A1958C:p.E653A;ENSG00000101596:ENST00000577880:exon4:c.A371C:p.E124A;ENSG00000101596:ENST00000261598:exon15:c.A1958C:p.E653A;	0.00604317486460901	0.126
18	2706363	A	G	18	2706365	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.A1958G:p.E653G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A1958G:p.E653G;ENSG00000101596:ENST00000577880:exon4:c.A371G:p.E124G;ENSG00000101596:ENST00000261598:exon15:c.A1958G:p.E653G;	0.00313049432657451	0.034
18	2706363	A	T	18	2706365	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.A1958T:p.E653V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A1958T:p.E653V;ENSG00000101596:ENST00000577880:exon4:c.A371T:p.E124V;ENSG00000101596:ENST00000261598:exon15:c.A1958T:p.E653V;	0.00170299624528144	0.06
18	2706466	A	C	18	2706468	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon15:c.A2061C:p.A687A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A2061C:p.A687A;ENSG00000101596:ENST00000577880:exon4:c.A474C:p.A158A;ENSG00000101596:ENST00000261598:exon15:c.A2061C:p.A687A;	1.3546222464298E-4	0.0
18	2706466	A	G	18	2706468	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon15:c.A2061G:p.A687A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A2061G:p.A687A;ENSG00000101596:ENST00000577880:exon4:c.A474G:p.A158A;ENSG00000101596:ENST00000261598:exon15:c.A2061G:p.A687A;	2.24952411321879E-4	0.014
18	2706466	A	T	18	2706468	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon15:c.A2061T:p.A687A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A2061T:p.A687A;ENSG00000101596:ENST00000577880:exon4:c.A474T:p.A158A;ENSG00000101596:ENST00000261598:exon15:c.A2061T:p.A687A;	0.00298117248008771	0.158
18	2706467	A	C	18	2706469	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon15:c.A2062C:p.R688R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A2062C:p.R688R;ENSG00000101596:ENST00000577880:exon4:c.A475C:p.R159R;ENSG00000101596:ENST00000261598:exon15:c.A2062C:p.R688R;	0.97957988673607	0.664
18	2706467	A	G	18	2706469	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.A2062G:p.R688G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A2062G:p.R688G;ENSG00000101596:ENST00000577880:exon4:c.A475G:p.R159G;ENSG00000101596:ENST00000261598:exon15:c.A2062G:p.R688G;	0.830216045788366	0.556
18	2706467	A	T	18	2706469	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.A2062T:p.R688W;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.A2062T:p.R688W;ENSG00000101596:ENST00000577880:exon4:c.A475T:p.R159W;ENSG00000101596:ENST00000261598:exon15:c.A2062T:p.R688W;	0.9142338499785	0.578
18	2706468	G	A	18	2706470	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.G2063A:p.R688K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.G2063A:p.R688K;ENSG00000101596:ENST00000577880:exon4:c.G476A:p.R159K;ENSG00000101596:ENST00000261598:exon15:c.G2063A:p.R688K;	0.997926147454908	0.73
18	2706468	G	C	18	2706470	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.G2063C:p.R688T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.G2063C:p.R688T;ENSG00000101596:ENST00000577880:exon4:c.G476C:p.R159T;ENSG00000101596:ENST00000261598:exon15:c.G2063C:p.R688T;	0.878517162103651	0.568
18	2706468	G	T	18	2706470	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon15:c.G2063T:p.R688M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon15:c.G2063T:p.R688M;ENSG00000101596:ENST00000577880:exon4:c.G476T:p.R159M;ENSG00000101596:ENST00000261598:exon15:c.G2063T:p.R688M;	0.903561686975134	0.572
18	2706469	G	A	18	2706471	y	y	splicing	SMCHD1(NM_015295:exon15:c.2063+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.2063+1G>A;ENST00000261598:exon15:c.2063+1G>A;ENST00000577880:exon4:c.476+1G>A;ENST00000584897:exon1:c.28+1G>A)	.	.	0.99995545544995	0.928
18	2706469	G	C	18	2706471	y	y	splicing	SMCHD1(NM_015295:exon15:c.2063+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.2063+1G>C;ENST00000261598:exon15:c.2063+1G>C;ENST00000577880:exon4:c.476+1G>C;ENST00000584897:exon1:c.28+1G>C)	.	.	0.99995545544995	0.938
18	2706469	G	T	18	2706471	y	y	splicing	SMCHD1(NM_015295:exon15:c.2063+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.2063+1G>T;ENST00000261598:exon15:c.2063+1G>T;ENST00000577880:exon4:c.476+1G>T;ENST00000584897:exon1:c.28+1G>T)	.	.	0.99995545544995	0.932
18	2706470	T	A	18	2706472	y	y	splicing	SMCHD1(NM_015295:exon15:c.2063+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.2063+2T>A;ENST00000261598:exon15:c.2063+2T>A;ENST00000577880:exon4:c.476+2T>A;ENST00000584897:exon1:c.28+2T>A)	.	.	0.999981535500952	0.936
18	2706470	T	C	18	2706472	y	y	splicing	SMCHD1(NM_015295:exon15:c.2063+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.2063+2T>C;ENST00000261598:exon15:c.2063+2T>C;ENST00000577880:exon4:c.476+2T>C;ENST00000584897:exon1:c.28+2T>C)	.	.	0.979432205975979	0.584
18	2706470	T	G	18	2706472	y	y	splicing	SMCHD1(NM_015295:exon15:c.2063+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon15:c.2063+2T>G;ENST00000261598:exon15:c.2063+2T>G;ENST00000577880:exon4:c.476+2T>G;ENST00000584897:exon1:c.28+2T>G)	.	.	0.999980891420653	0.916
18	2706471	A	C	18	2706473	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0769522803956017	0.496
18	2706471	A	G	18	2706473	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.20830602285666E-4	0.008
18	2706471	A	T	18	2706473	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0310522118702994	0.424
18	2706472	A	C	18	2706474	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.281731591246019	0.44
18	2706472	A	G	18	2706474	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.510638609636254	0.4
18	2706472	A	T	18	2706474	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.660546256204137	0.464
18	2706473	G	A	18	2706475	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.277540678977033	0.516
18	2706473	G	C	18	2706475	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.166855619295909	0.466
18	2706473	G	T	18	2706475	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.266495585252221	0.492
18	2706474	T	A	18	2706476	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71741218338973E-4	0.024
18	2706474	T	C	18	2706476	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.15534937222982E-4	0.008
18	2706474	T	G	18	2706476	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71741218338973E-4	0.012
18	2706475	C	A	18	2706477	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.04821762665085E-5	0.0
18	2706475	C	G	18	2706477	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.04821762665085E-5	0.016
18	2706475	C	T	18	2706477	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.04821762665085E-5	0.0
18	2706476	A	C	18	2706478	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.8042999492716E-5	0.0
18	2706476	A	G	18	2706478	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.8042999492716E-5	0.002
18	2706476	A	T	18	2706478	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.8042999492716E-5	0.0
18	2707549	G	A	18	2707551	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.32753337174455E-5	0.0
18	2707549	G	C	18	2707551	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.22302925054054E-5	0.0
18	2707549	G	T	18	2707551	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.37201205666951E-5	0.002
18	2707550	T	A	18	2707552	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.192053381432232	0.478
18	2707550	T	C	18	2707552	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0760793962666716	0.278
18	2707550	T	G	18	2707552	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.197075279289002	0.352
18	2707551	T	A	18	2707553	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.93200269423724	0.796
18	2707551	T	C	18	2707553	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0143445124817398	0.13
18	2707551	T	G	18	2707553	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.920136787976328	0.814
18	2707552	T	A	18	2707554	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.900101070922077	0.676
18	2707552	T	C	18	2707554	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0281080586028165	0.212
18	2707552	T	G	18	2707554	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.341822901088934	0.468
18	2707553	C	A	18	2707555	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00835033257621648	0.06
18	2707553	C	G	18	2707555	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.159162950674272	0.118
18	2707553	C	T	18	2707555	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.56636665878293E-4	0.01
18	2707554	A	C	18	2707556	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.86787951521512E-5	0.002
18	2707554	A	G	18	2707556	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.77547636659262E-5	0.0
18	2707554	A	T	18	2707556	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.86787951521512E-5	0.006
18	2707555	T	A	18	2707557	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.127105307093452	0.368
18	2707555	T	C	18	2707557	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.47595859094207E-5	0.068
18	2707555	T	G	18	2707557	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999840335040336	0.968
18	2707556	A	C	18	2707558	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.15798931445429E-4	0.002
18	2707556	A	G	18	2707558	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.43817179149105E-4	0.016
18	2707556	A	T	18	2707558	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.09242666150663E-4	0.014
18	2707557	A	C	18	2707559	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.44667736033351E-5	0.012
18	2707557	A	G	18	2707559	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.98418634082014	0.844
18	2707557	A	T	18	2707559	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.32471619756082E-4	0.026
18	2707558	C	A	18	2707560	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.959084492008473	0.552
18	2707558	C	G	18	2707560	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999477898388012	0.744
18	2707558	C	T	18	2707560	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.94645015257015E-4	0.018
18	2707559	A	C	18	2707561	y	y	splicing	SMCHD1(NM_015295:exon16:c.2064-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2064-2A>C;ENST00000261598:exon16:c.2064-2A>C;ENST00000577880:exon5:c.477-2A>C;ENST00000584897:exon2:c.29-2A>C)	.	.	0.99993872479901	0.926
18	2707559	A	G	18	2707561	y	y	splicing	SMCHD1(NM_015295:exon16:c.2064-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2064-2A>G;ENST00000261598:exon16:c.2064-2A>G;ENST00000577880:exon5:c.477-2A>G;ENST00000584897:exon2:c.29-2A>G)	.	.	0.99993872479901	0.926
18	2707559	A	T	18	2707561	y	y	splicing	SMCHD1(NM_015295:exon16:c.2064-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2064-2A>T;ENST00000261598:exon16:c.2064-2A>T;ENST00000577880:exon5:c.477-2A>T;ENST00000584897:exon2:c.29-2A>T)	.	.	0.999976254090479	0.928
18	2707560	G	A	18	2707562	y	y	splicing	SMCHD1(NM_015295:exon16:c.2064-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2064-1G>A;ENST00000261598:exon16:c.2064-1G>A;ENST00000577880:exon5:c.477-1G>A;ENST00000584897:exon2:c.29-1G>A)	.	.	0.999984967332678	0.938
18	2707560	G	C	18	2707562	y	y	splicing	SMCHD1(NM_015295:exon16:c.2064-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2064-1G>C;ENST00000261598:exon16:c.2064-1G>C;ENST00000577880:exon5:c.477-1G>C;ENST00000584897:exon2:c.29-1G>C)	.	.	0.999984967332678	0.938
18	2707560	G	T	18	2707562	y	y	splicing	SMCHD1(NM_015295:exon16:c.2064-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2064-1G>T;ENST00000261598:exon16:c.2064-1G>T;ENST00000577880:exon5:c.477-1G>T;ENST00000584897:exon2:c.29-1G>T)	.	.	0.999984967332678	0.938
18	2707561	G	A	18	2707563	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon16:c.G2064A:p.R688R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.G2064A:p.R688R;ENSG00000101596:ENST00000577880:exon5:c.G477A:p.R159R;ENSG00000101596:ENST00000261598:exon16:c.G2064A:p.R688R;	0.0669065924595728	0.228
18	2707561	G	C	18	2707563	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.G2064C:p.R688S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.G2064C:p.R688S;ENSG00000101596:ENST00000577880:exon5:c.G477C:p.R159S;ENSG00000101596:ENST00000261598:exon16:c.G2064C:p.R688S;	0.00975793487984227	0.414
18	2707561	G	T	18	2707563	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.G2064T:p.R688S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.G2064T:p.R688S;ENSG00000101596:ENST00000577880:exon5:c.G477T:p.R159S;ENSG00000101596:ENST00000261598:exon16:c.G2064T:p.R688S;	0.140127007111794	0.516
18	2707562	C	A	18	2707564	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.C2065A:p.L689I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.C2065A:p.L689I;ENSG00000101596:ENST00000577880:exon5:c.C478A:p.L160I;ENSG00000101596:ENST00000261598:exon16:c.C2065A:p.L689I;	0.0437437083102701	0.162
18	2707562	C	G	18	2707564	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.C2065G:p.L689V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.C2065G:p.L689V;ENSG00000101596:ENST00000577880:exon5:c.C478G:p.L160V;ENSG00000101596:ENST00000261598:exon16:c.C2065G:p.L689V;	0.00668627514285687	0.032
18	2707562	C	T	18	2707564	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.C2065T:p.L689F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.C2065T:p.L689F;ENSG00000101596:ENST00000577880:exon5:c.C478T:p.L160F;ENSG00000101596:ENST00000261598:exon16:c.C2065T:p.L689F;	0.00576788542342205	0.054
18	2707641	T	A	18	2707643	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.T2144A:p.I715N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.T2144A:p.I715N;ENSG00000101596:ENST00000577880:exon5:c.T557A:p.I186N;ENSG00000101596:ENST00000261598:exon16:c.T2144A:p.I715N;	0.00125104121259695	0.022
18	2707641	T	C	18	2707643	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.T2144C:p.I715T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.T2144C:p.I715T;ENSG00000101596:ENST00000577880:exon5:c.T557C:p.I186T;ENSG00000101596:ENST00000261598:exon16:c.T2144C:p.I715T;	0.00231250205240741	0.01
18	2707641	T	G	18	2707643	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.T2144G:p.I715S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.T2144G:p.I715S;ENSG00000101596:ENST00000577880:exon5:c.T557G:p.I186S;ENSG00000101596:ENST00000261598:exon16:c.T2144G:p.I715S;	0.00457051916575273	0.022
18	2707642	T	A	18	2707644	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon16:c.T2145A:p.I715I;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.T2145A:p.I715I;ENSG00000101596:ENST00000577880:exon5:c.T558A:p.I186I;ENSG00000101596:ENST00000261598:exon16:c.T2145A:p.I715I;	5.80110973239675E-4	0.18
18	2707642	T	C	18	2707644	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon16:c.T2145C:p.I715I;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.T2145C:p.I715I;ENSG00000101596:ENST00000577880:exon5:c.T558C:p.I186I;ENSG00000101596:ENST00000261598:exon16:c.T2145C:p.I715I;	0.00336709310086719	0.06
18	2707642	T	G	18	2707644	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.T2145G:p.I715M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.T2145G:p.I715M;ENSG00000101596:ENST00000577880:exon5:c.T558G:p.I186M;ENSG00000101596:ENST00000261598:exon16:c.T2145G:p.I715M;	0.00101843506498536	0.12
18	2707643	G	A	18	2707645	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.G2146A:p.G716S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.G2146A:p.G716S;ENSG00000101596:ENST00000577880:exon5:c.G559A:p.G187S;ENSG00000101596:ENST00000261598:exon16:c.G2146A:p.G716S;	0.999953869212767	0.996
18	2707643	G	C	18	2707645	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.G2146C:p.G716R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.G2146C:p.G716R;ENSG00000101596:ENST00000577880:exon5:c.G559C:p.G187R;ENSG00000101596:ENST00000261598:exon16:c.G2146C:p.G716R;	0.999947996660201	0.974
18	2707643	G	T	18	2707645	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon16:c.G2146T:p.G716C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon16:c.G2146T:p.G716C;ENSG00000101596:ENST00000577880:exon5:c.G559T:p.G187C;ENSG00000101596:ENST00000261598:exon16:c.G2146T:p.G716C;	0.999831043652462	0.966
18	2707644	G	A	18	2707646	y	y	splicing	SMCHD1(NM_015295:exon16:c.2146+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2146+1G>A;ENST00000261598:exon16:c.2146+1G>A;ENST00000577880:exon5:c.559+1G>A;ENST00000584897:exon2:c.111+1G>A)	.	.	0.999986675681007	0.932
18	2707644	G	C	18	2707646	y	y	splicing	SMCHD1(NM_015295:exon16:c.2146+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2146+1G>C;ENST00000261598:exon16:c.2146+1G>C;ENST00000577880:exon5:c.559+1G>C;ENST00000584897:exon2:c.111+1G>C)	.	.	0.999986675681007	0.932
18	2707644	G	T	18	2707646	y	y	splicing	SMCHD1(NM_015295:exon16:c.2146+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2146+1G>T;ENST00000261598:exon16:c.2146+1G>T;ENST00000577880:exon5:c.559+1G>T;ENST00000584897:exon2:c.111+1G>T)	.	.	0.999986675681007	0.932
18	2707645	T	A	18	2707647	y	y	splicing	SMCHD1(NM_015295:exon16:c.2146+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2146+2T>A;ENST00000261598:exon16:c.2146+2T>A;ENST00000577880:exon5:c.559+2T>A;ENST00000584897:exon2:c.111+2T>A)	.	.	0.999989917668626	0.926
18	2707645	T	C	18	2707647	y	y	splicing	SMCHD1(NM_015295:exon16:c.2146+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2146+2T>C;ENST00000261598:exon16:c.2146+2T>C;ENST00000577880:exon5:c.559+2T>C;ENST00000584897:exon2:c.111+2T>C)	.	.	0.986528855787127	0.62
18	2707645	T	G	18	2707647	y	y	splicing	SMCHD1(NM_015295:exon16:c.2146+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon16:c.2146+2T>G;ENST00000261598:exon16:c.2146+2T>G;ENST00000577880:exon5:c.559+2T>G;ENST00000584897:exon2:c.111+2T>G)	.	.	0.999989917668626	0.924
18	2707646	A	C	18	2707648	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999966044302547	0.958
18	2707646	A	G	18	2707648	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998469519073519	0.944
18	2707646	A	T	18	2707648	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999909687399012	0.93
18	2707647	T	A	18	2707649	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.84809763900942E-4	0.144
18	2707647	T	C	18	2707649	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.02887640613169E-4	0.074
18	2707647	T	G	18	2707649	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.31684948543692E-4	0.062
18	2707648	G	A	18	2707650	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999976111550717	0.998
18	2707648	G	C	18	2707650	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999990964828062	0.966
18	2707648	G	T	18	2707650	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999986167055353	0.976
18	2707649	T	A	18	2707651	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.10953346236548	0.24
18	2707649	T	C	18	2707651	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0582068680778617	0.196
18	2707649	T	G	18	2707651	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0179420548618232	0.236
18	2707650	T	A	18	2707652	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.00367937051036E-5	0.002
18	2707650	T	C	18	2707652	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.85693901984625E-5	0.002
18	2707650	T	G	18	2707652	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.46326599402646E-5	0.002
18	2707651	T	A	18	2707653	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.98036128175662E-5	0.002
18	2707651	T	C	18	2707653	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.09536904023425E-5	0.002
18	2707651	T	G	18	2707653	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.98619374582464E-4	0.012
18	2707793	T	A	18	2707795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.890738538427133	0.684
18	2707793	T	C	18	2707795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00141094977189961	0.024
18	2707793	T	G	18	2707795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.519583889849673	0.646
18	2707794	T	A	18	2707796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.994779151210937	0.938
18	2707794	T	C	18	2707796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.44924645879634	0.358
18	2707794	T	G	18	2707796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.993881928666569	0.89
18	2707795	T	A	18	2707797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99953244773049	0.958
18	2707795	T	C	18	2707797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.22307880025416E-4	0.0
18	2707795	T	G	18	2707797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0192476402785048	0.168
18	2707796	G	A	18	2707798	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.21782348506223E-5	0.0
18	2707796	G	C	18	2707798	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.38250294606551E-5	0.014
18	2707796	G	T	18	2707798	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.93122219523525E-5	0.0
18	2707797	A	C	18	2707799	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.2751290095907E-4	0.004
18	2707797	A	G	18	2707799	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.54940559187097E-5	0.0
18	2707797	A	T	18	2707799	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.76313263376057E-4	0.0
18	2707798	C	A	18	2707800	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.236232423065287	0.314
18	2707798	C	G	18	2707800	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999949538804355	0.97
18	2707798	C	T	18	2707800	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.1435426918449E-4	0.036
18	2707799	T	A	18	2707801	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0407632498727381	0.22
18	2707799	T	C	18	2707801	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.12844054910818E-5	0.004
18	2707799	T	G	18	2707801	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.288355029138742	0.36
18	2707800	C	A	18	2707802	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.44718035515745E-5	0.014
18	2707800	C	G	18	2707802	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.5022169445007E-5	0.022
18	2707800	C	T	18	2707802	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.65274754058697E-5	0.0
18	2707801	A	C	18	2707803	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.32898243031609E-5	0.0
18	2707801	A	G	18	2707803	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.62629453565509E-5	0.0
18	2707801	A	T	18	2707803	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.40994972666863E-5	0.0
18	2707802	T	A	18	2707804	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00224618164345186	0.188
18	2707802	T	C	18	2707804	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.03076925523269E-5	0.0
18	2707802	T	G	18	2707804	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.953130880658167	0.692
18	2707803	A	C	18	2707805	y	y	splicing	SMCHD1(NM_015295:exon17:c.2147-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2147-2A>C;ENST00000261598:exon17:c.2147-2A>C;ENST00000577880:exon6:c.560-2A>C;ENST00000584897:exon3:c.112-2A>C)	.	.	0.999946188727699	0.942
18	2707803	A	G	18	2707805	y	y	splicing	SMCHD1(NM_015295:exon17:c.2147-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2147-2A>G;ENST00000261598:exon17:c.2147-2A>G;ENST00000577880:exon6:c.560-2A>G;ENST00000584897:exon3:c.112-2A>G)	.	.	0.999946188727699	0.942
18	2707803	A	T	18	2707805	y	y	splicing	SMCHD1(NM_015295:exon17:c.2147-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2147-2A>T;ENST00000261598:exon17:c.2147-2A>T;ENST00000577880:exon6:c.560-2A>T;ENST00000584897:exon3:c.112-2A>T)	.	.	0.999946188727699	0.946
18	2707804	G	A	18	2707806	y	y	splicing	SMCHD1(NM_015295:exon17:c.2147-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2147-1G>A;ENST00000261598:exon17:c.2147-1G>A;ENST00000577880:exon6:c.560-1G>A;ENST00000584897:exon3:c.112-1G>A)	.	.	0.999938422912956	0.922
18	2707804	G	C	18	2707806	y	y	splicing	SMCHD1(NM_015295:exon17:c.2147-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2147-1G>C;ENST00000261598:exon17:c.2147-1G>C;ENST00000577880:exon6:c.560-1G>C;ENST00000584897:exon3:c.112-1G>C)	.	.	0.999938422912956	0.942
18	2707804	G	T	18	2707806	y	y	splicing	SMCHD1(NM_015295:exon17:c.2147-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2147-1G>T;ENST00000261598:exon17:c.2147-1G>T;ENST00000577880:exon6:c.560-1G>T;ENST00000584897:exon3:c.112-1G>T)	.	.	0.999938422912956	0.93
18	2707805	G	A	18	2707807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.G2147A:p.G716D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.G2147A:p.G716D;ENSG00000101596:ENST00000577880:exon6:c.G560A:p.G187D;ENSG00000101596:ENST00000261598:exon17:c.G2147A:p.G716D;	0.855760201502923	0.616
18	2707805	G	C	18	2707807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.G2147C:p.G716A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.G2147C:p.G716A;ENSG00000101596:ENST00000577880:exon6:c.G560C:p.G187A;ENSG00000101596:ENST00000261598:exon17:c.G2147C:p.G716A;	0.908776316995257	0.616
18	2707805	G	T	18	2707807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.G2147T:p.G716V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.G2147T:p.G716V;ENSG00000101596:ENST00000577880:exon6:c.G560T:p.G187V;ENSG00000101596:ENST00000261598:exon17:c.G2147T:p.G716V;	0.96634939409832	0.604
18	2707806	T	A	18	2707808	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon17:c.T2148A:p.G716G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2148A:p.G716G;ENSG00000101596:ENST00000577880:exon6:c.T561A:p.G187G;ENSG00000101596:ENST00000261598:exon17:c.T2148A:p.G716G;	0.00470893458568546	0.232
18	2707806	T	C	18	2707808	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon17:c.T2148C:p.G716G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2148C:p.G716G;ENSG00000101596:ENST00000577880:exon6:c.T561C:p.G187G;ENSG00000101596:ENST00000261598:exon17:c.T2148C:p.G716G;	0.00487838580961513	0.07
18	2707806	T	G	18	2707808	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon17:c.T2148G:p.G716G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2148G:p.G716G;ENSG00000101596:ENST00000577880:exon6:c.T561G:p.G187G;ENSG00000101596:ENST00000261598:exon17:c.T2148G:p.G716G;	0.00520671141427274	0.256
18	2707916	A	C	18	2707918	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.A2258C:p.H753P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.A2258C:p.H753P;ENSG00000101596:ENST00000577880:exon6:c.A671C:p.H224P;ENSG00000101596:ENST00000261598:exon17:c.A2258C:p.H753P;	1.64272596562887E-4	0.032
18	2707916	A	G	18	2707918	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.A2258G:p.H753R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.A2258G:p.H753R;ENSG00000101596:ENST00000577880:exon6:c.A671G:p.H224R;ENSG00000101596:ENST00000261598:exon17:c.A2258G:p.H753R;	5.25397297300922E-4	0.078
18	2707916	A	T	18	2707918	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.A2258T:p.H753L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.A2258T:p.H753L;ENSG00000101596:ENST00000577880:exon6:c.A671T:p.H224L;ENSG00000101596:ENST00000261598:exon17:c.A2258T:p.H753L;	0.0301924023728143	0.236
18	2707917	T	A	18	2707919	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.T2259A:p.H753Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2259A:p.H753Q;ENSG00000101596:ENST00000577880:exon6:c.T672A:p.H224Q;ENSG00000101596:ENST00000261598:exon17:c.T2259A:p.H753Q;	2.70158151036527E-5	0.072
18	2707917	T	C	18	2707919	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon17:c.T2259C:p.H753H;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2259C:p.H753H;ENSG00000101596:ENST00000577880:exon6:c.T672C:p.H224H;ENSG00000101596:ENST00000261598:exon17:c.T2259C:p.H753H;	4.15594357105221E-5	0.002
18	2707917	T	G	18	2707919	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.T2259G:p.H753Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2259G:p.H753Q;ENSG00000101596:ENST00000577880:exon6:c.T672G:p.H224Q;ENSG00000101596:ENST00000261598:exon17:c.T2259G:p.H753Q;	2.24295230950496E-5	0.01
18	2707918	T	A	18	2707920	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.T2260A:p.S754T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2260A:p.S754T;ENSG00000101596:ENST00000577880:exon6:c.T673A:p.S225T;ENSG00000101596:ENST00000261598:exon17:c.T2260A:p.S754T;	1.87639152605572E-5	0.0
18	2707918	T	C	18	2707920	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.T2260C:p.S754P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2260C:p.S754P;ENSG00000101596:ENST00000577880:exon6:c.T673C:p.S225P;ENSG00000101596:ENST00000261598:exon17:c.T2260C:p.S754P;	3.97558309807952E-5	0.032
18	2707918	T	G	18	2707920	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon17:c.T2260G:p.S754A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon17:c.T2260G:p.S754A;ENSG00000101596:ENST00000577880:exon6:c.T673G:p.S225A;ENSG00000101596:ENST00000261598:exon17:c.T2260G:p.S754A;	4.64545693064924E-5	0.012
18	2707919	G	A	18	2707921	y	y	splicing	SMCHD1(NM_015295:exon17:c.2260+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2260+1G>A;ENST00000261598:exon17:c.2260+1G>A;ENST00000577880:exon6:c.673+1G>A;ENST00000584897:exon3:c.225+1G>A)	.	.	0.999968430223941	0.866
18	2707919	G	C	18	2707921	y	y	splicing	SMCHD1(NM_015295:exon17:c.2260+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2260+1G>C;ENST00000261598:exon17:c.2260+1G>C;ENST00000577880:exon6:c.673+1G>C;ENST00000584897:exon3:c.225+1G>C)	.	.	0.999965143305126	0.878
18	2707919	G	T	18	2707921	y	y	splicing	SMCHD1(NM_015295:exon17:c.2260+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2260+1G>T;ENST00000261598:exon17:c.2260+1G>T;ENST00000577880:exon6:c.673+1G>T;ENST00000584897:exon3:c.225+1G>T)	.	.	0.999968430223941	0.886
18	2707920	T	A	18	2707922	y	y	splicing	SMCHD1(NM_015295:exon17:c.2260+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2260+2T>A;ENST00000261598:exon17:c.2260+2T>A;ENST00000577880:exon6:c.673+2T>A;ENST00000584897:exon3:c.225+2T>A)	.	.	0.999980255680118	0.786
18	2707920	T	C	18	2707922	y	y	splicing	SMCHD1(NM_015295:exon17:c.2260+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2260+2T>C;ENST00000261598:exon17:c.2260+2T>C;ENST00000577880:exon6:c.673+2T>C;ENST00000584897:exon3:c.225+2T>C)	.	.	0.828925557050976	0.504
18	2707920	T	G	18	2707922	y	y	splicing	SMCHD1(NM_015295:exon17:c.2260+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon17:c.2260+2T>G;ENST00000261598:exon17:c.2260+2T>G;ENST00000577880:exon6:c.673+2T>G;ENST00000584897:exon3:c.225+2T>G)	.	.	0.999980255680118	0.738
18	2707921	A	C	18	2707923	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999785374784947	0.888
18	2707921	A	G	18	2707923	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0225453310308183	0.188
18	2707921	A	T	18	2707923	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99982838540445	0.918
18	2707922	A	C	18	2707924	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.877225274869604	0.626
18	2707922	A	G	18	2707924	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.968907080616519	0.826
18	2707922	A	T	18	2707924	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.973214086503332	0.74
18	2707923	G	A	18	2707925	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999984567833973	0.998
18	2707923	G	C	18	2707925	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999996861144782	0.972
18	2707923	G	T	18	2707925	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999985417230147	0.998
18	2707924	T	A	18	2707926	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.946974455954015	0.622
18	2707924	T	C	18	2707926	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.940548299690378	0.678
18	2707924	T	G	18	2707926	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.977209018301047	0.712
18	2707925	A	C	18	2707927	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00116491426547665	0.026
18	2707925	A	G	18	2707927	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00116491426547665	0.026
18	2707925	A	T	18	2707927	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.96609564087314E-4	0.024
18	2707926	T	A	18	2707928	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.14549922277602E-5	0.006
18	2707926	T	C	18	2707928	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.33121569799246E-5	0.012
18	2707926	T	G	18	2707928	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.14549922277602E-5	0.012
18	2718144	T	A	18	2718146	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0260499521016046	0.29
18	2718144	T	C	18	2718146	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.76828988757342E-4	0.022
18	2718144	T	G	18	2718146	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00751101744269075	0.276
18	2718145	C	A	18	2718147	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00872734760489914	0.136
18	2718145	C	G	18	2718147	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0013353089468834	0.04
18	2718145	C	T	18	2718147	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.52044041815145E-4	0.004
18	2718146	T	A	18	2718148	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0151320160235271	0.158
18	2718146	T	C	18	2718148	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.86789374877026E-4	0.018
18	2718146	T	G	18	2718148	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00243039865074068	0.2
18	2718147	T	A	18	2718149	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00154938632590777	0.164
18	2718147	T	C	18	2718149	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.7307102320561E-4	0.008
18	2718147	T	G	18	2718149	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00185901086454143	0.198
18	2718148	T	A	18	2718150	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0172078992250889	0.164
18	2718148	T	C	18	2718150	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.69451544229534E-4	0.02
18	2718148	T	G	18	2718150	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00430642262325676	0.15
18	2718149	T	A	18	2718151	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00193466964052776	0.076
18	2718149	T	C	18	2718151	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.15269658576424E-5	0.04
18	2718149	T	G	18	2718151	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00142640216937299	0.084
18	2718150	A	C	18	2718152	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.18768099344305E-4	0.012
18	2718150	A	G	18	2718152	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.39720161473176E-4	0.012
18	2718150	A	T	18	2718152	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.76042421241616E-4	0.05
18	2718151	T	A	18	2718153	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.407429382290552	0.476
18	2718151	T	C	18	2718153	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0130660463111411	0.182
18	2718151	T	G	18	2718153	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999966133875738	0.95
18	2718152	T	A	18	2718154	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.69052375002502E-5	0.002
18	2718152	T	C	18	2718154	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.68396083630015E-4	0.13
18	2718152	T	G	18	2718154	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.09165239313791E-4	0.01
18	2718153	A	C	18	2718155	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.55742491845871E-5	0.072
18	2718153	A	G	18	2718155	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.465133781441032	0.624
18	2718153	A	T	18	2718155	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26917311809366E-4	0.006
18	2718154	A	C	18	2718156	y	y	splicing	SMCHD1(NM_015295:exon18:c.2261-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2261-2A>C;ENST00000261598:exon18:c.2261-2A>C;ENST00000577880:exon7:c.674-2A>C;ENST00000584897:exon4:c.226-2A>C)	.	.	0.999972155025474	0.814
18	2718154	A	G	18	2718156	y	y	splicing	SMCHD1(NM_015295:exon18:c.2261-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2261-2A>G;ENST00000261598:exon18:c.2261-2A>G;ENST00000577880:exon7:c.674-2A>G;ENST00000584897:exon4:c.226-2A>G)	.	.	0.999972155025474	0.84
18	2718154	A	T	18	2718156	y	y	splicing	SMCHD1(NM_015295:exon18:c.2261-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2261-2A>T;ENST00000261598:exon18:c.2261-2A>T;ENST00000577880:exon7:c.674-2A>T;ENST00000584897:exon4:c.226-2A>T)	.	.	0.999971317418422	0.888
18	2718155	G	A	18	2718157	y	y	splicing	SMCHD1(NM_015295:exon18:c.2261-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2261-1G>A;ENST00000261598:exon18:c.2261-1G>A;ENST00000577880:exon7:c.674-1G>A;ENST00000584897:exon4:c.226-1G>A)	.	.	0.99996748057446	0.904
18	2718155	G	C	18	2718157	y	y	splicing	SMCHD1(NM_015295:exon18:c.2261-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2261-1G>C;ENST00000261598:exon18:c.2261-1G>C;ENST00000577880:exon7:c.674-1G>C;ENST00000584897:exon4:c.226-1G>C)	.	.	0.99996748057446	0.904
18	2718155	G	T	18	2718157	y	y	splicing	SMCHD1(NM_015295:exon18:c.2261-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2261-1G>T;ENST00000261598:exon18:c.2261-1G>T;ENST00000577880:exon7:c.674-1G>T;ENST00000584897:exon4:c.226-1G>T)	.	.	0.99996748057446	0.904
18	2718156	C	A	18	2718158	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.C2261A:p.S754Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.C2261A:p.S754Y;ENSG00000101596:ENST00000577880:exon7:c.C674A:p.S225Y;ENSG00000101596:ENST00000261598:exon18:c.C2261A:p.S754Y;	0.00116669704240265	0.032
18	2718156	C	G	18	2718158	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.C2261G:p.S754C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.C2261G:p.S754C;ENSG00000101596:ENST00000577880:exon7:c.C674G:p.S225C;ENSG00000101596:ENST00000261598:exon18:c.C2261G:p.S754C;	0.0011719648339661	0.104
18	2718156	C	T	18	2718158	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.C2261T:p.S754F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.C2261T:p.S754F;ENSG00000101596:ENST00000577880:exon7:c.C674T:p.S225F;ENSG00000101596:ENST00000261598:exon18:c.C2261T:p.S754F;	0.0207146241430033	0.192
18	2718157	T	A	18	2718159	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon18:c.T2262A:p.S754S;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.T2262A:p.S754S;ENSG00000101596:ENST00000577880:exon7:c.T675A:p.S225S;ENSG00000101596:ENST00000261598:exon18:c.T2262A:p.S754S;	0.00210389141986867	0.126
18	2718157	T	C	18	2718159	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon18:c.T2262C:p.S754S;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.T2262C:p.S754S;ENSG00000101596:ENST00000577880:exon7:c.T675C:p.S225S;ENSG00000101596:ENST00000261598:exon18:c.T2262C:p.S754S;	0.00379758067027685	0.02
18	2718157	T	G	18	2718159	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon18:c.T2262G:p.S754S;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.T2262G:p.S754S;ENSG00000101596:ENST00000577880:exon7:c.T675G:p.S225S;ENSG00000101596:ENST00000261598:exon18:c.T2262G:p.S754S;	5.43306348782323E-4	0.022
18	2718231	T	A	18	2718233	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.T2336A:p.M779K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.T2336A:p.M779K;ENSG00000101596:ENST00000577880:exon7:c.T749A:p.M250K;ENSG00000101596:ENST00000261598:exon18:c.T2336A:p.M779K;	0.00343225643302189	0.054
18	2718231	T	C	18	2718233	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.T2336C:p.M779T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.T2336C:p.M779T;ENSG00000101596:ENST00000577880:exon7:c.T749C:p.M250T;ENSG00000101596:ENST00000261598:exon18:c.T2336C:p.M779T;	0.00145407246100642	0.006
18	2718231	T	G	18	2718233	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.T2336G:p.M779R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.T2336G:p.M779R;ENSG00000101596:ENST00000577880:exon7:c.T749G:p.M250R;ENSG00000101596:ENST00000261598:exon18:c.T2336G:p.M779R;	0.00542213725007448	0.064
18	2718232	G	A	18	2718234	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.G2337A:p.M779I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.G2337A:p.M779I;ENSG00000101596:ENST00000577880:exon7:c.G750A:p.M250I;ENSG00000101596:ENST00000261598:exon18:c.G2337A:p.M779I;	0.195742757466005	0.274
18	2718232	G	C	18	2718234	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.G2337C:p.M779I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.G2337C:p.M779I;ENSG00000101596:ENST00000577880:exon7:c.G750C:p.M250I;ENSG00000101596:ENST00000261598:exon18:c.G2337C:p.M779I;	0.523216292496684	0.342
18	2718232	G	T	18	2718234	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.G2337T:p.M779I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.G2337T:p.M779I;ENSG00000101596:ENST00000577880:exon7:c.G750T:p.M250I;ENSG00000101596:ENST00000261598:exon18:c.G2337T:p.M779I;	0.691984282928624	0.406
18	2718233	G	A	18	2718235	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.G2338A:p.E780K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.G2338A:p.E780K;ENSG00000101596:ENST00000577880:exon7:c.G751A:p.E251K;ENSG00000101596:ENST00000261598:exon18:c.G2338A:p.E780K;	0.999955352483627	0.986
18	2718233	G	C	18	2718235	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon18:c.G2338C:p.E780Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon18:c.G2338C:p.E780Q;ENSG00000101596:ENST00000577880:exon7:c.G751C:p.E251Q;ENSG00000101596:ENST00000261598:exon18:c.G2338C:p.E780Q;	0.999858186275674	0.95
18	2718233	G	T	18	2718235	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon18:c.G2338T:p.E780X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon18:c.G2338T:p.E780X;ENSG00000101596:ENST00000577880:exon7:c.G751T:p.E251X;ENSG00000101596:ENST00000261598:exon18:c.G2338T:p.E780X;	0.999979562447562	0.992
18	2718234	G	A	18	2718236	y	y	splicing	SMCHD1(NM_015295:exon18:c.2338+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2338+1G>A;ENST00000261598:exon18:c.2338+1G>A;ENST00000577880:exon7:c.751+1G>A;ENST00000584897:exon4:c.303+1G>A)	.	.	0.999986675681007	0.932
18	2718234	G	C	18	2718236	y	y	splicing	SMCHD1(NM_015295:exon18:c.2338+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2338+1G>C;ENST00000261598:exon18:c.2338+1G>C;ENST00000577880:exon7:c.751+1G>C;ENST00000584897:exon4:c.303+1G>C)	.	.	0.999986675681007	0.932
18	2718234	G	T	18	2718236	y	y	splicing	SMCHD1(NM_015295:exon18:c.2338+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2338+1G>T;ENST00000261598:exon18:c.2338+1G>T;ENST00000577880:exon7:c.751+1G>T;ENST00000584897:exon4:c.303+1G>T)	.	.	0.999986675681007	0.932
18	2718235	T	A	18	2718237	y	y	splicing	SMCHD1(NM_015295:exon18:c.2338+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2338+2T>A;ENST00000261598:exon18:c.2338+2T>A;ENST00000577880:exon7:c.751+2T>A;ENST00000584897:exon4:c.303+2T>A)	.	.	0.999988247793601	0.926
18	2718235	T	C	18	2718237	y	y	splicing	SMCHD1(NM_015295:exon18:c.2338+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2338+2T>C;ENST00000261598:exon18:c.2338+2T>C;ENST00000577880:exon7:c.751+2T>C;ENST00000584897:exon4:c.303+2T>C)	.	.	0.999943260809542	0.858
18	2718235	T	G	18	2718237	y	y	splicing	SMCHD1(NM_015295:exon18:c.2338+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon18:c.2338+2T>G;ENST00000261598:exon18:c.2338+2T>G;ENST00000577880:exon7:c.751+2T>G;ENST00000584897:exon4:c.303+2T>G)	.	.	0.999988247793601	0.926
18	2718236	G	A	18	2718238	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.43556399621051E-4	0.032
18	2718236	G	C	18	2718238	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.978581915167788	0.572
18	2718236	G	T	18	2718238	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.936001230803575	0.518
18	2718237	A	C	18	2718239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.976319115145033	0.774
18	2718237	A	G	18	2718239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.989905456537257	0.768
18	2718237	A	T	18	2718239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.992277921054433	0.794
18	2718238	G	A	18	2718240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999975866109912	0.982
18	2718238	G	C	18	2718240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999987846389363	0.966
18	2718238	G	T	18	2718240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999965551772197	0.976
18	2718239	T	A	18	2718241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.936143872508634	0.47
18	2718239	T	C	18	2718241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.677700460366169	0.31
18	2718239	T	G	18	2718241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.400771126142582	0.402
18	2718240	T	A	18	2718242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.57368379873993E-6	0.0
18	2718240	T	C	18	2718242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.57368379873993E-6	0.0
18	2718240	T	G	18	2718242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.57368379873993E-6	0.0
18	2718241	C	A	18	2718243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.63951723395911E-5	0.074
18	2718241	C	G	18	2718243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.9376874165041E-5	0.066
18	2718241	C	T	18	2718243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.9376874165041E-5	0.094
18	2718301	T	A	18	2718303	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.326737561005978	0.446
18	2718301	T	C	18	2718303	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.95759575100121E-4	0.038
18	2718301	T	G	18	2718303	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0658147485974249	0.418
18	2718302	A	C	18	2718304	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.00710958821201E-4	0.004
18	2718302	A	G	18	2718304	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.70716963601769E-4	0.004
18	2718302	A	T	18	2718304	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00115263767594018	0.19
18	2718303	A	C	18	2718305	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.35933049115753E-4	0.0
18	2718303	A	G	18	2718305	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998407041764348	0.96
18	2718303	A	T	18	2718305	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.5442372956067E-4	0.006
18	2718304	T	A	18	2718306	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0127398732672289	0.434
18	2718304	T	C	18	2718306	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.3008885509578E-4	0.058
18	2718304	T	G	18	2718306	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999900398675674	0.974
18	2718305	T	A	18	2718307	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.159281044813261	0.384
18	2718305	T	C	18	2718307	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.99521000368745E-4	0.088
18	2718305	T	G	18	2718307	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0161308972239692	0.362
18	2718306	T	A	18	2718308	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0617109106150816	0.362
18	2718306	T	C	18	2718308	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.64631256680679E-5	0.046
18	2718306	T	G	18	2718308	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.176264466475961	0.386
18	2718307	A	C	18	2718309	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.92154207179764E-5	0.05
18	2718307	A	G	18	2718309	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.70036570298718E-5	0.05
18	2718307	A	T	18	2718309	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.92154207179764E-5	0.102
18	2718308	T	A	18	2718310	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.393208254660582	0.508
18	2718308	T	C	18	2718310	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0112511131833184	0.186
18	2718308	T	G	18	2718310	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999949022093414	0.92
18	2718309	C	A	18	2718311	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.35910534069789E-5	0.008
18	2718309	C	G	18	2718311	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.06995491366003E-5	0.072
18	2718309	C	T	18	2718311	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.9947002416844E-5	0.028
18	2718310	C	A	18	2718312	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.866601449969654	0.75
18	2718310	C	G	18	2718312	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996576957865773	0.682
18	2718310	C	T	18	2718312	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.93337193192466E-4	0.134
18	2718311	A	C	18	2718313	y	y	splicing	SMCHD1(NM_015295:exon19:c.2339-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2339-2A>C;ENST00000261598:exon19:c.2339-2A>C;ENST00000577880:exon8:c.752-2A>C;ENST00000584897:exon5:c.304-2A>C)	.	.	0.99995820954749	0.82
18	2718311	A	G	18	2718313	y	y	splicing	SMCHD1(NM_015295:exon19:c.2339-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2339-2A>G;ENST00000261598:exon19:c.2339-2A>G;ENST00000577880:exon8:c.752-2A>G;ENST00000584897:exon5:c.304-2A>G)	.	.	0.99995820954749	0.818
18	2718311	A	T	18	2718313	y	y	splicing	SMCHD1(NM_015295:exon19:c.2339-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2339-2A>T;ENST00000261598:exon19:c.2339-2A>T;ENST00000577880:exon8:c.752-2A>T;ENST00000584897:exon5:c.304-2A>T)	.	.	0.99995820954749	0.852
18	2718312	G	A	18	2718314	y	y	splicing	SMCHD1(NM_015295:exon19:c.2339-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2339-1G>A;ENST00000261598:exon19:c.2339-1G>A;ENST00000577880:exon8:c.752-1G>A;ENST00000584897:exon5:c.304-1G>A)	.	.	0.99996067433903	0.88
18	2718312	G	C	18	2718314	y	y	splicing	SMCHD1(NM_015295:exon19:c.2339-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2339-1G>C;ENST00000261598:exon19:c.2339-1G>C;ENST00000577880:exon8:c.752-1G>C;ENST00000584897:exon5:c.304-1G>C)	.	.	0.99995261935813	0.832
18	2718312	G	T	18	2718314	y	y	splicing	SMCHD1(NM_015295:exon19:c.2339-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2339-1G>T;ENST00000261598:exon19:c.2339-1G>T;ENST00000577880:exon8:c.752-1G>T;ENST00000584897:exon5:c.304-1G>T)	.	.	0.99995261935813	0.878
18	2718313	A	C	18	2718315	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2339C:p.E780A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2339C:p.E780A;ENSG00000101596:ENST00000577880:exon8:c.A752C:p.E251A;ENSG00000101596:ENST00000261598:exon19:c.A2339C:p.E780A;	0.0103310884693241	0.198
18	2718313	A	G	18	2718315	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2339G:p.E780G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2339G:p.E780G;ENSG00000101596:ENST00000577880:exon8:c.A752G:p.E251G;ENSG00000101596:ENST00000261598:exon19:c.A2339G:p.E780G;	6.24950592730244E-4	0.024
18	2718313	A	T	18	2718315	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2339T:p.E780V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2339T:p.E780V;ENSG00000101596:ENST00000577880:exon8:c.A752T:p.E251V;ENSG00000101596:ENST00000261598:exon19:c.A2339T:p.E780V;	0.0115416013194827	0.23
18	2718314	A	C	18	2718316	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2340C:p.E780D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2340C:p.E780D;ENSG00000101596:ENST00000577880:exon8:c.A753C:p.E251D;ENSG00000101596:ENST00000261598:exon19:c.A2340C:p.E780D;	2.74519342706553E-4	0.014
18	2718314	A	G	18	2718316	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon19:c.A2340G:p.E780E;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2340G:p.E780E;ENSG00000101596:ENST00000577880:exon8:c.A753G:p.E251E;ENSG00000101596:ENST00000261598:exon19:c.A2340G:p.E780E;	3.53303913773222E-4	0.024
18	2718314	A	T	18	2718316	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2340T:p.E780D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2340T:p.E780D;ENSG00000101596:ENST00000577880:exon8:c.A753T:p.E251D;ENSG00000101596:ENST00000261598:exon19:c.A2340T:p.E780D;	1.76562055735271E-4	0.01
18	2718430	A	C	18	2718432	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2456C:p.K819T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2456C:p.K819T;ENSG00000101596:ENST00000577880:exon8:c.A869C:p.K290T;ENSG00000101596:ENST00000261598:exon19:c.A2456C:p.K819T;	0.00260651232618469	0.01
18	2718430	A	G	18	2718432	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2456G:p.K819R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2456G:p.K819R;ENSG00000101596:ENST00000577880:exon8:c.A869G:p.K290R;ENSG00000101596:ENST00000261598:exon19:c.A2456G:p.K819R;	0.002291842893571	0.052
18	2718430	A	T	18	2718432	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2456T:p.K819I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2456T:p.K819I;ENSG00000101596:ENST00000577880:exon8:c.A869T:p.K290I;ENSG00000101596:ENST00000261598:exon19:c.A2456T:p.K819I;	0.264891058763422	0.258
18	2718431	A	C	18	2718433	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2457C:p.K819N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2457C:p.K819N;ENSG00000101596:ENST00000577880:exon8:c.A870C:p.K290N;ENSG00000101596:ENST00000261598:exon19:c.A2457C:p.K819N;	0.523940471465339	0.584
18	2718431	A	G	18	2718433	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon19:c.A2457G:p.K819K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2457G:p.K819K;ENSG00000101596:ENST00000577880:exon8:c.A870G:p.K290K;ENSG00000101596:ENST00000261598:exon19:c.A2457G:p.K819K;	0.774245010078191	0.578
18	2718431	A	T	18	2718433	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.A2457T:p.K819N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.A2457T:p.K819N;ENSG00000101596:ENST00000577880:exon8:c.A870T:p.K290N;ENSG00000101596:ENST00000261598:exon19:c.A2457T:p.K819N;	0.820567077349454	0.528
18	2718432	G	A	18	2718434	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.G2458A:p.E820K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.G2458A:p.E820K;ENSG00000101596:ENST00000577880:exon8:c.G871A:p.E291K;ENSG00000101596:ENST00000261598:exon19:c.G2458A:p.E820K;	0.999273088672606	0.904
18	2718432	G	C	18	2718434	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon19:c.G2458C:p.E820Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon19:c.G2458C:p.E820Q;ENSG00000101596:ENST00000577880:exon8:c.G871C:p.E291Q;ENSG00000101596:ENST00000261598:exon19:c.G2458C:p.E820Q;	0.999865276950571	0.98
18	2718432	G	T	18	2718434	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon19:c.G2458T:p.E820X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon19:c.G2458T:p.E820X;ENSG00000101596:ENST00000577880:exon8:c.G871T:p.E291X;ENSG00000101596:ENST00000261598:exon19:c.G2458T:p.E820X;	0.999711884707062	0.958
18	2718433	G	A	18	2718435	y	y	splicing	SMCHD1(NM_015295:exon19:c.2458+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2458+1G>A;ENST00000261598:exon19:c.2458+1G>A;ENST00000577880:exon8:c.871+1G>A;ENST00000584897:exon5:c.423+1G>A)	.	.	0.999986675681007	0.934
18	2718433	G	C	18	2718435	y	y	splicing	SMCHD1(NM_015295:exon19:c.2458+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2458+1G>C;ENST00000261598:exon19:c.2458+1G>C;ENST00000577880:exon8:c.871+1G>C;ENST00000584897:exon5:c.423+1G>C)	.	.	0.999986675681007	0.932
18	2718433	G	T	18	2718435	y	y	splicing	SMCHD1(NM_015295:exon19:c.2458+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2458+1G>T;ENST00000261598:exon19:c.2458+1G>T;ENST00000577880:exon8:c.871+1G>T;ENST00000584897:exon5:c.423+1G>T)	.	.	0.999986675681007	0.932
18	2718434	T	A	18	2718436	y	y	splicing	SMCHD1(NM_015295:exon19:c.2458+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2458+2T>A;ENST00000261598:exon19:c.2458+2T>A;ENST00000577880:exon8:c.871+2T>A;ENST00000584897:exon5:c.423+2T>A)	.	.	0.999989917668626	0.926
18	2718434	T	C	18	2718436	y	y	splicing	SMCHD1(NM_015295:exon19:c.2458+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2458+2T>C;ENST00000261598:exon19:c.2458+2T>C;ENST00000577880:exon8:c.871+2T>C;ENST00000584897:exon5:c.423+2T>C)	.	.	0.990945634311904	0.618
18	2718434	T	G	18	2718436	y	y	splicing	SMCHD1(NM_015295:exon19:c.2458+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon19:c.2458+2T>G;ENST00000261598:exon19:c.2458+2T>G;ENST00000577880:exon8:c.871+2T>G;ENST00000584897:exon5:c.423+2T>G)	.	.	0.999989917668626	0.926
18	2718435	A	C	18	2718437	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.921609350923337	0.762
18	2718435	A	G	18	2718437	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.145203764969842	0.184
18	2718435	A	T	18	2718437	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.987521019028777	0.81
18	2718436	A	C	18	2718438	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.420896254294887	0.524
18	2718436	A	G	18	2718438	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.522107596340844	0.462
18	2718436	A	T	18	2718438	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.80220399983343	0.558
18	2718437	G	A	18	2718439	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.798291744445401	0.602
18	2718437	G	C	18	2718439	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.857732139134137	0.606
18	2718437	G	T	18	2718439	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.984859631226486	0.646
18	2718438	C	A	18	2718440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.92742499744882E-5	0.002
18	2718438	C	G	18	2718440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.17760199530663E-5	0.028
18	2718438	C	T	18	2718440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.29466599534024E-5	0.0
18	2718439	A	C	18	2718441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.85096237301136E-5	0.0
18	2718439	A	G	18	2718441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.85096237301136E-5	0.0
18	2718439	A	T	18	2718441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.30176921285033E-4	0.0
18	2718440	A	C	18	2718442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.33930376896499E-5	0.0
18	2718440	A	G	18	2718442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.33930376896499E-5	0.0
18	2718440	A	T	18	2718442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.25762508039554E-5	0.0
18	2722505	T	A	18	2722507	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.896885906519153	0.652
18	2722505	T	C	18	2722507	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0062989161694977	0.162
18	2722505	T	G	18	2722507	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.826672072119141	0.582
18	2722506	T	A	18	2722508	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.773621330405504	0.41
18	2722506	T	C	18	2722508	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00169496592579378	0.146
18	2722506	T	G	18	2722508	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0678346114388901	0.432
18	2722507	T	A	18	2722509	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.954537053735281	0.644
18	2722507	T	C	18	2722509	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00455727119737488	0.15
18	2722507	T	G	18	2722509	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.921763730969209	0.602
18	2722508	T	A	18	2722510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0783302072797979	0.316
18	2722508	T	C	18	2722510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.54010751319504E-5	0.048
18	2722508	T	G	18	2722510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0064922548167931	0.208
18	2722509	T	A	18	2722511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999940236766812	0.964
18	2722509	T	C	18	2722511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.65475458485404E-4	0.014
18	2722509	T	G	18	2722511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.9757480069519	0.686
18	2722510	G	A	18	2722512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.10403116121801E-4	0.188
18	2722510	G	C	18	2722512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.03644493535381E-4	0.078
18	2722510	G	T	18	2722512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.53574011598951E-4	0.074
18	2722511	T	A	18	2722513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.468204377023278	0.634
18	2722511	T	C	18	2722513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.52949942168794E-4	0.06
18	2722511	T	G	18	2722513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.957112883860673	0.612
18	2722512	T	A	18	2722514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.916720551676829	0.462
18	2722512	T	C	18	2722514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00227220494430668	0.198
18	2722512	T	G	18	2722514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.875822328894015	0.5
18	2722513	A	C	18	2722515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.69379905946046E-5	0.008
18	2722513	A	G	18	2722515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.46190409312397E-4	0.072
18	2722513	A	T	18	2722515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.08053717395272E-5	0.024
18	2722514	A	C	18	2722516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.28449262517886E-4	0.088
18	2722514	A	G	18	2722516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.788909268942685	0.612
18	2722514	A	T	18	2722516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.37458787783395E-4	0.04
18	2722515	A	C	18	2722517	y	y	splicing	SMCHD1(NM_015295:exon20:c.2459-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2459-2A>C;ENST00000261598:exon20:c.2459-2A>C;ENST00000577880:exon9:c.872-2A>C)	.	.	0.999988247793601	0.922
18	2722515	A	G	18	2722517	y	y	splicing	SMCHD1(NM_015295:exon20:c.2459-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2459-2A>G;ENST00000261598:exon20:c.2459-2A>G;ENST00000577880:exon9:c.872-2A>G)	.	.	0.999988247793601	0.922
18	2722515	A	T	18	2722517	y	y	splicing	SMCHD1(NM_015295:exon20:c.2459-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2459-2A>T;ENST00000261598:exon20:c.2459-2A>T;ENST00000577880:exon9:c.872-2A>T)	.	.	0.999988247793601	0.922
18	2722516	G	A	18	2722518	y	y	splicing	SMCHD1(NM_015295:exon20:c.2459-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2459-1G>A;ENST00000261598:exon20:c.2459-1G>A;ENST00000577880:exon9:c.872-1G>A)	.	.	0.999985532734767	0.934
18	2722516	G	C	18	2722518	y	y	splicing	SMCHD1(NM_015295:exon20:c.2459-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2459-1G>C;ENST00000261598:exon20:c.2459-1G>C;ENST00000577880:exon9:c.872-1G>C)	.	.	0.999985532734767	0.932
18	2722516	G	T	18	2722518	y	y	splicing	SMCHD1(NM_015295:exon20:c.2459-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2459-1G>T;ENST00000261598:exon20:c.2459-1G>T;ENST00000577880:exon9:c.872-1G>T)	.	.	0.999985532734767	0.934
18	2722517	A	C	18	2722519	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.A2459C:p.E820A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2459C:p.E820A;ENSG00000101596:ENST00000577880:exon9:c.A872C:p.E291A;ENSG00000101596:ENST00000261598:exon20:c.A2459C:p.E820A;	0.641148185748727	0.494
18	2722517	A	G	18	2722519	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.A2459G:p.E820G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2459G:p.E820G;ENSG00000101596:ENST00000577880:exon9:c.A872G:p.E291G;ENSG00000101596:ENST00000261598:exon20:c.A2459G:p.E820G;	0.620195433565732	0.622
18	2722517	A	T	18	2722519	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.A2459T:p.E820V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2459T:p.E820V;ENSG00000101596:ENST00000577880:exon9:c.A872T:p.E291V;ENSG00000101596:ENST00000261598:exon20:c.A2459T:p.E820V;	0.755225274833427	0.48
18	2722518	G	A	18	2722520	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon20:c.G2460A:p.E820E;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.G2460A:p.E820E;ENSG00000101596:ENST00000577880:exon9:c.G873A:p.E291E;ENSG00000101596:ENST00000261598:exon20:c.G2460A:p.E820E;	0.519606147557021	0.4
18	2722518	G	C	18	2722520	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.G2460C:p.E820D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.G2460C:p.E820D;ENSG00000101596:ENST00000577880:exon9:c.G873C:p.E291D;ENSG00000101596:ENST00000261598:exon20:c.G2460C:p.E820D;	0.961155190340553	0.892
18	2722518	G	T	18	2722520	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.G2460T:p.E820D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.G2460T:p.E820D;ENSG00000101596:ENST00000577880:exon9:c.G873T:p.E291D;ENSG00000101596:ENST00000261598:exon20:c.G2460T:p.E820D;	0.982027194108158	0.842
18	2722659	A	C	18	2722661	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon20:c.A2601C:p.A867A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2601C:p.A867A;ENSG00000101596:ENST00000577880:exon9:c.A1014C:p.A338A;ENSG00000101596:ENST00000261598:exon20:c.A2601C:p.A867A;	0.00493476876393968	0.092
18	2722659	A	G	18	2722661	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon20:c.A2601G:p.A867A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2601G:p.A867A;ENSG00000101596:ENST00000577880:exon9:c.A1014G:p.A338A;ENSG00000101596:ENST00000261598:exon20:c.A2601G:p.A867A;	0.0191797594589826	0.18
18	2722659	A	T	18	2722661	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon20:c.A2601T:p.A867A;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2601T:p.A867A;ENSG00000101596:ENST00000577880:exon9:c.A1014T:p.A338A;ENSG00000101596:ENST00000261598:exon20:c.A2601T:p.A867A;	0.938136541308366	0.618
18	2722660	A	C	18	2722662	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.A2602C:p.S868R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2602C:p.S868R;ENSG00000101596:ENST00000577880:exon9:c.A1015C:p.S339R;ENSG00000101596:ENST00000261598:exon20:c.A2602C:p.S868R;	0.989432081702606	0.81
18	2722660	A	G	18	2722662	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.A2602G:p.S868G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2602G:p.S868G;ENSG00000101596:ENST00000577880:exon9:c.A1015G:p.S339G;ENSG00000101596:ENST00000261598:exon20:c.A2602G:p.S868G;	0.997065981801892	0.888
18	2722660	A	T	18	2722662	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.A2602T:p.S868C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.A2602T:p.S868C;ENSG00000101596:ENST00000577880:exon9:c.A1015T:p.S339C;ENSG00000101596:ENST00000261598:exon20:c.A2602T:p.S868C;	0.999533602940774	0.944
18	2722661	G	A	18	2722663	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.G2603A:p.S868N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.G2603A:p.S868N;ENSG00000101596:ENST00000577880:exon9:c.G1016A:p.S339N;ENSG00000101596:ENST00000261598:exon20:c.G2603A:p.S868N;	0.999981143675918	0.998
18	2722661	G	C	18	2722663	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.G2603C:p.S868T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.G2603C:p.S868T;ENSG00000101596:ENST00000577880:exon9:c.G1016C:p.S339T;ENSG00000101596:ENST00000261598:exon20:c.G2603C:p.S868T;	0.999997247587064	1.0
18	2722661	G	T	18	2722663	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon20:c.G2603T:p.S868I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon20:c.G2603T:p.S868I;ENSG00000101596:ENST00000577880:exon9:c.G1016T:p.S339I;ENSG00000101596:ENST00000261598:exon20:c.G2603T:p.S868I;	0.999975183529518	0.976
18	2722662	G	A	18	2722664	y	y	splicing	SMCHD1(NM_015295:exon20:c.2603+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2603+1G>A;ENST00000261598:exon20:c.2603+1G>A;ENST00000577880:exon9:c.1016+1G>A)	.	.	0.999985532734767	0.936
18	2722662	G	C	18	2722664	y	y	splicing	SMCHD1(NM_015295:exon20:c.2603+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2603+1G>C;ENST00000261598:exon20:c.2603+1G>C;ENST00000577880:exon9:c.1016+1G>C)	.	.	0.999985532734767	0.936
18	2722662	G	T	18	2722664	y	y	splicing	SMCHD1(NM_015295:exon20:c.2603+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2603+1G>T;ENST00000261598:exon20:c.2603+1G>T;ENST00000577880:exon9:c.1016+1G>T)	.	.	0.999985532734767	0.936
18	2722663	T	A	18	2722665	y	y	splicing	SMCHD1(NM_015295:exon20:c.2603+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2603+2T>A;ENST00000261598:exon20:c.2603+2T>A;ENST00000577880:exon9:c.1016+2T>A)	.	.	0.999988247793601	0.926
18	2722663	T	C	18	2722665	y	y	splicing	SMCHD1(NM_015295:exon20:c.2603+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2603+2T>C;ENST00000261598:exon20:c.2603+2T>C;ENST00000577880:exon9:c.1016+2T>C)	.	.	0.98918007292081	0.642
18	2722663	T	G	18	2722665	y	y	splicing	SMCHD1(NM_015295:exon20:c.2603+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon20:c.2603+2T>G;ENST00000261598:exon20:c.2603+2T>G;ENST00000577880:exon9:c.1016+2T>G)	.	.	0.999988247793601	0.926
18	2722664	A	C	18	2722666	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998605180958079	0.88
18	2722664	A	G	18	2722666	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.938507458538065	0.794
18	2722664	A	T	18	2722666	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997242809239455	0.848
18	2722665	A	C	18	2722667	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.825825864803463	0.654
18	2722665	A	G	18	2722667	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.938904751674545	0.74
18	2722665	A	T	18	2722667	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.880499094271994	0.62
18	2722666	T	A	18	2722668	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.58555890760386E-5	0.014
18	2722666	T	C	18	2722668	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.99140883346313E-5	0.008
18	2722666	T	G	18	2722668	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.62654409090084E-5	0.01
18	2722667	T	A	18	2722669	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00159267601240393	0.064
18	2722667	T	C	18	2722669	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00594357907711252	0.106
18	2722667	T	G	18	2722669	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.67907408862905E-5	0.078
18	2722668	T	A	18	2722670	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.45119024152005E-5	0.0
18	2722668	T	C	18	2722670	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.45119024152005E-5	0.0
18	2722668	T	G	18	2722670	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.45119024152005E-5	0.0
18	2722669	G	A	18	2722671	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.98661106717482E-5	0.0
18	2722669	G	C	18	2722671	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.08457171098356E-4	0.0
18	2722669	G	T	18	2722671	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.98661106717482E-5	0.004
18	2724885	T	A	18	2724887	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.28022295773385E-4	0.09
18	2724885	T	C	18	2724887	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.67750304923937E-4	0.06
18	2724885	T	G	18	2724887	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00194480703512254	0.072
18	2724886	T	A	18	2724888	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.1422507763584E-4	0.12
18	2724886	T	C	18	2724888	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.41177713569144E-4	0.044
18	2724886	T	G	18	2724888	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.82169088330541E-4	0.11
18	2724887	T	A	18	2724889	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0378131245240669	0.334
18	2724887	T	C	18	2724889	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00203986422276707	0.1
18	2724887	T	G	18	2724889	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.056814867405519	0.254
18	2724888	T	A	18	2724890	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00808698310116748	0.178
18	2724888	T	C	18	2724890	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00110170926393855	0.044
18	2724888	T	G	18	2724890	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0140223675576784	0.13
18	2724889	T	A	18	2724891	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0207712231623439	0.28
18	2724889	T	C	18	2724891	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.06440216833674E-4	0.054
18	2724889	T	G	18	2724891	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0052460304530639	0.156
18	2724890	T	A	18	2724892	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0078927661338655	0.21
18	2724890	T	C	18	2724892	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.59838674390882E-5	0.02
18	2724890	T	G	18	2724892	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00168865867470298	0.104
18	2724891	C	A	18	2724893	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0126942626358334	0.366
18	2724891	C	G	18	2724893	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0104683696508987	0.364
18	2724891	C	T	18	2724893	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.95578568909807E-5	0.008
18	2724892	C	A	18	2724894	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.25296574070622E-4	0.068
18	2724892	C	G	18	2724894	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00162808154114837	0.128
18	2724892	C	T	18	2724894	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.90549299914797E-5	0.0
18	2724893	C	A	18	2724895	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.44875773601426E-5	0.002
18	2724893	C	G	18	2724895	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.44875773601426E-5	0.0
18	2724893	C	T	18	2724895	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.765480354176E-5	0.002
18	2724894	C	A	18	2724896	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.926918142723366	0.702
18	2724894	C	G	18	2724896	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999588817413128	0.766
18	2724894	C	T	18	2724896	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.99077652891901E-4	0.1
18	2724895	A	C	18	2724897	y	y	splicing	SMCHD1(NM_015295:exon21:c.2604-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2604-2A>C;ENST00000261598:exon21:c.2604-2A>C;ENST00000577880:exon10:c.1017-2A>C;ENST00000584897:exon6:c.424-2A>C)	.	.	0.999946188727699	0.942
18	2724895	A	G	18	2724897	y	y	splicing	SMCHD1(NM_015295:exon21:c.2604-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2604-2A>G;ENST00000261598:exon21:c.2604-2A>G;ENST00000577880:exon10:c.1017-2A>G;ENST00000584897:exon6:c.424-2A>G)	.	.	0.999946188727699	0.936
18	2724895	A	T	18	2724897	y	y	splicing	SMCHD1(NM_015295:exon21:c.2604-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2604-2A>T;ENST00000261598:exon21:c.2604-2A>T;ENST00000577880:exon10:c.1017-2A>T;ENST00000584897:exon6:c.424-2A>T)	.	.	0.999946188727699	0.958
18	2724896	G	A	18	2724898	y	y	splicing	SMCHD1(NM_015295:exon21:c.2604-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2604-1G>A;ENST00000261598:exon21:c.2604-1G>A;ENST00000577880:exon10:c.1017-1G>A;ENST00000584897:exon6:c.424-1G>A)	.	.	0.99993314117114	0.93
18	2724896	G	C	18	2724898	y	y	splicing	SMCHD1(NM_015295:exon21:c.2604-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2604-1G>C;ENST00000261598:exon21:c.2604-1G>C;ENST00000577880:exon10:c.1017-1G>C;ENST00000584897:exon6:c.424-1G>C)	.	.	0.99993314117114	0.934
18	2724896	G	T	18	2724898	y	y	splicing	SMCHD1(NM_015295:exon21:c.2604-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2604-1G>T;ENST00000261598:exon21:c.2604-1G>T;ENST00000577880:exon10:c.1017-1G>T;ENST00000584897:exon6:c.424-1G>T)	.	.	0.99993314117114	0.932
18	2724897	T	A	18	2724899	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.T2604A:p.S868R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.T2604A:p.S868R;ENSG00000101596:ENST00000577880:exon10:c.T1017A:p.S339R;ENSG00000101596:ENST00000261598:exon21:c.T2604A:p.S868R;	7.5124663385606E-4	0.012
18	2724897	T	C	18	2724899	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon21:c.T2604C:p.S868S;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.T2604C:p.S868S;ENSG00000101596:ENST00000577880:exon10:c.T1017C:p.S339S;ENSG00000101596:ENST00000261598:exon21:c.T2604C:p.S868S;	0.00271410248675315	0.046
18	2724897	T	G	18	2724899	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.T2604G:p.S868R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.T2604G:p.S868R;ENSG00000101596:ENST00000577880:exon10:c.T1017G:p.S339R;ENSG00000101596:ENST00000261598:exon21:c.T2604G:p.S868R;	0.00123616567991087	0.088
18	2724898	G	A	18	2724900	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.G2605A:p.G869S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.G2605A:p.G869S;ENSG00000101596:ENST00000577880:exon10:c.G1018A:p.G340S;ENSG00000101596:ENST00000261598:exon21:c.G2605A:p.G869S;	0.918858645521491	0.596
18	2724898	G	C	18	2724900	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.G2605C:p.G869R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.G2605C:p.G869R;ENSG00000101596:ENST00000577880:exon10:c.G1018C:p.G340R;ENSG00000101596:ENST00000261598:exon21:c.G2605C:p.G869R;	0.0276650188757131	0.206
18	2724898	G	T	18	2724900	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.G2605T:p.G869C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.G2605T:p.G869C;ENSG00000101596:ENST00000577880:exon10:c.G1018T:p.G340C;ENSG00000101596:ENST00000261598:exon21:c.G2605T:p.G869C;	0.00563087273127639	0.072
18	2724991	A	C	18	2724993	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.A2698C:p.K900Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.A2698C:p.K900Q;ENSG00000101596:ENST00000577880:exon10:c.A1111C:p.K371Q;ENSG00000101596:ENST00000261598:exon21:c.A2698C:p.K900Q;	0.00613953570357077	0.072
18	2724991	A	G	18	2724993	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.A2698G:p.K900E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.A2698G:p.K900E;ENSG00000101596:ENST00000577880:exon10:c.A1111G:p.K371E;ENSG00000101596:ENST00000261598:exon21:c.A2698G:p.K900E;	0.118142259103726	0.256
18	2724991	A	T	18	2724993	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon21:c.A2698T:p.K900X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon21:c.A2698T:p.K900X;ENSG00000101596:ENST00000577880:exon10:c.A1111T:p.K371X;ENSG00000101596:ENST00000261598:exon21:c.A2698T:p.K900X;	0.975128795094091	0.652
18	2724992	A	C	18	2724994	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.A2699C:p.K900T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.A2699C:p.K900T;ENSG00000101596:ENST00000577880:exon10:c.A1112C:p.K371T;ENSG00000101596:ENST00000261598:exon21:c.A2699C:p.K900T;	0.960993809746268	0.83
18	2724992	A	G	18	2724994	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.A2699G:p.K900R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.A2699G:p.K900R;ENSG00000101596:ENST00000577880:exon10:c.A1112G:p.K371R;ENSG00000101596:ENST00000261598:exon21:c.A2699G:p.K900R;	0.981129190088428	0.922
18	2724992	A	T	18	2724994	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.A2699T:p.K900M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.A2699T:p.K900M;ENSG00000101596:ENST00000577880:exon10:c.A1112T:p.K371M;ENSG00000101596:ENST00000261598:exon21:c.A2699T:p.K900M;	0.978812906076216	0.598
18	2724993	G	A	18	2724995	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon21:c.G2700A:p.K900K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.G2700A:p.K900K;ENSG00000101596:ENST00000577880:exon10:c.G1113A:p.K371K;ENSG00000101596:ENST00000261598:exon21:c.G2700A:p.K900K;	0.999656268299684	0.91
18	2724993	G	C	18	2724995	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.G2700C:p.K900N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.G2700C:p.K900N;ENSG00000101596:ENST00000577880:exon10:c.G1113C:p.K371N;ENSG00000101596:ENST00000261598:exon21:c.G2700C:p.K900N;	0.999854959268266	0.908
18	2724993	G	T	18	2724995	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon21:c.G2700T:p.K900N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon21:c.G2700T:p.K900N;ENSG00000101596:ENST00000577880:exon10:c.G1113T:p.K371N;ENSG00000101596:ENST00000261598:exon21:c.G2700T:p.K900N;	0.999638746205077	0.964
18	2724994	G	A	18	2724996	y	y	splicing	SMCHD1(NM_015295:exon21:c.2700+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2700+1G>A;ENST00000261598:exon21:c.2700+1G>A;ENST00000577880:exon10:c.1113+1G>A;ENST00000584897:exon6:c.520+1G>A)	.	.	0.999990361384395	0.938
18	2724994	G	C	18	2724996	y	y	splicing	SMCHD1(NM_015295:exon21:c.2700+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2700+1G>C;ENST00000261598:exon21:c.2700+1G>C;ENST00000577880:exon10:c.1113+1G>C;ENST00000584897:exon6:c.520+1G>C)	.	.	0.999990361384395	0.938
18	2724994	G	T	18	2724996	y	y	splicing	SMCHD1(NM_015295:exon21:c.2700+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2700+1G>T;ENST00000261598:exon21:c.2700+1G>T;ENST00000577880:exon10:c.1113+1G>T;ENST00000584897:exon6:c.520+1G>T)	.	.	0.999990361384395	0.938
18	2724995	T	A	18	2724997	y	y	splicing	SMCHD1(NM_015295:exon21:c.2700+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2700+2T>A;ENST00000261598:exon21:c.2700+2T>A;ENST00000577880:exon10:c.1113+2T>A;ENST00000584897:exon6:c.520+2T>A)	.	.	0.999988247793601	0.93
18	2724995	T	C	18	2724997	y	y	splicing	SMCHD1(NM_015295:exon21:c.2700+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2700+2T>C;ENST00000261598:exon21:c.2700+2T>C;ENST00000577880:exon10:c.1113+2T>C;ENST00000584897:exon6:c.520+2T>C)	.	.	0.98918007292081	0.676
18	2724995	T	G	18	2724997	y	y	splicing	SMCHD1(NM_015295:exon21:c.2700+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon21:c.2700+2T>G;ENST00000261598:exon21:c.2700+2T>G;ENST00000577880:exon10:c.1113+2T>G;ENST00000584897:exon6:c.520+2T>G)	.	.	0.999988247793601	0.93
18	2724996	A	C	18	2724998	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.86279022469986	0.674
18	2724996	A	G	18	2724998	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00644390061780776	0.08
18	2724996	A	T	18	2724998	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.705186045374722	0.586
18	2724997	A	C	18	2724999	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0937444780428662	0.336
18	2724997	A	G	18	2724999	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.133279668107903	0.396
18	2724997	A	T	18	2724999	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.128264616103228	0.3
18	2724998	G	A	18	2725000	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.964693573020333	0.598
18	2724998	G	C	18	2725000	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.934362790487056	0.648
18	2724998	G	T	18	2725000	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997339527620484	0.662
18	2724999	C	A	18	2725001	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.14936831942757E-4	0.026
18	2724999	C	G	18	2725001	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.3199139452229E-4	0.06
18	2724999	C	T	18	2725001	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.67189985857917E-5	0.024
18	2725000	A	C	18	2725002	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.821824429032E-4	0.002
18	2725000	A	G	18	2725002	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.821824429032E-4	0.002
18	2725000	A	T	18	2725002	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.88864756717333E-4	0.012
18	2725001	T	A	18	2725003	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.15928322694241E-4	0.0
18	2725001	T	C	18	2725003	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.51591174045998E-4	0.02
18	2725001	T	G	18	2725003	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.50014361262222E-4	0.02
18	2726438	T	A	18	2726440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00123338871894149	0.09
18	2726438	T	C	18	2726440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.75546104124732E-4	0.02
18	2726438	T	G	18	2726440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00219148895139811	0.122
18	2726439	T	A	18	2726441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00277423569992981	0.158
18	2726439	T	C	18	2726441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.40197998640287E-4	0.008
18	2726439	T	G	18	2726441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00236787005903656	0.1
18	2726440	T	A	18	2726442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.87881082246661E-4	0.052
18	2726440	T	C	18	2726442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.74776886553233E-4	0.02
18	2726440	T	G	18	2726442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00226243449884427	0.116
18	2726441	T	A	18	2726443	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00137435524238216	0.134
18	2726441	T	C	18	2726443	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.69218644844367E-4	0.052
18	2726441	T	G	18	2726443	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00519760247469355	0.104
18	2726442	T	A	18	2726444	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.84898558431545E-4	0.032
18	2726442	T	C	18	2726444	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.17515759393292E-5	0.0
18	2726442	T	G	18	2726444	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.04046605192077E-4	0.038
18	2726443	C	A	18	2726445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00770402085684677	0.172
18	2726443	C	G	18	2726445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00222194563757808	0.158
18	2726443	C	T	18	2726445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.07205053067319E-4	0.0
18	2726444	C	A	18	2726446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.11365284091963E-4	0.066
18	2726444	C	G	18	2726446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00192942106394042	0.182
18	2726444	C	T	18	2726446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.43673078238645E-5	0.002
18	2726445	A	C	18	2726447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.28530982815529E-4	0.006
18	2726445	A	G	18	2726447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.65514590480412E-4	0.02
18	2726445	A	T	18	2726447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.45109520486858E-4	0.002
18	2726446	A	C	18	2726448	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00388151509754627	0.114
18	2726446	A	G	18	2726448	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.961807311928763	0.524
18	2726446	A	T	18	2726448	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00988821561564835	0.134
18	2726447	C	A	18	2726449	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99912577244657	0.844
18	2726447	C	G	18	2726449	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999525117742753	0.962
18	2726447	C	T	18	2726449	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.044461386121531	0.174
18	2726448	A	C	18	2726450	y	y	splicing	SMCHD1(NM_015295:exon22:c.2701-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2701-2A>C;ENST00000261598:exon22:c.2701-2A>C;ENST00000577880:exon11:c.1114-2A>C;ENST00000584897:exon7:c.521-2A>C)	.	.	0.999988247793601	0.926
18	2726448	A	G	18	2726450	y	y	splicing	SMCHD1(NM_015295:exon22:c.2701-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2701-2A>G;ENST00000261598:exon22:c.2701-2A>G;ENST00000577880:exon11:c.1114-2A>G;ENST00000584897:exon7:c.521-2A>G)	.	.	0.999988247793601	0.926
18	2726448	A	T	18	2726450	y	y	splicing	SMCHD1(NM_015295:exon22:c.2701-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2701-2A>T;ENST00000261598:exon22:c.2701-2A>T;ENST00000577880:exon11:c.1114-2A>T;ENST00000584897:exon7:c.521-2A>T)	.	.	0.999988247793601	0.926
18	2726449	G	A	18	2726451	y	y	splicing	SMCHD1(NM_015295:exon22:c.2701-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2701-1G>A;ENST00000261598:exon22:c.2701-1G>A;ENST00000577880:exon11:c.1114-1G>A;ENST00000584897:exon7:c.521-1G>A)	.	.	0.999985532734767	0.938
18	2726449	G	C	18	2726451	y	y	splicing	SMCHD1(NM_015295:exon22:c.2701-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2701-1G>C;ENST00000261598:exon22:c.2701-1G>C;ENST00000577880:exon11:c.1114-1G>C;ENST00000584897:exon7:c.521-1G>C)	.	.	0.999985532734767	0.938
18	2726449	G	T	18	2726451	y	y	splicing	SMCHD1(NM_015295:exon22:c.2701-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2701-1G>T;ENST00000261598:exon22:c.2701-1G>T;ENST00000577880:exon11:c.1114-1G>T;ENST00000584897:exon7:c.521-1G>T)	.	.	0.999985532734767	0.938
18	2726450	A	C	18	2726452	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.A2701C:p.N901H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.A2701C:p.N901H;ENSG00000101596:ENST00000577880:exon11:c.A1114C:p.N372H;ENSG00000101596:ENST00000261598:exon22:c.A2701C:p.N901H;	0.0703172807115419	0.182
18	2726450	A	G	18	2726452	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.A2701G:p.N901D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.A2701G:p.N901D;ENSG00000101596:ENST00000577880:exon11:c.A1114G:p.N372D;ENSG00000101596:ENST00000261598:exon22:c.A2701G:p.N901D;	0.00117411847139789	0.016
18	2726450	A	T	18	2726452	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.A2701T:p.N901Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.A2701T:p.N901Y;ENSG00000101596:ENST00000577880:exon11:c.A1114T:p.N372Y;ENSG00000101596:ENST00000261598:exon22:c.A2701T:p.N901Y;	0.0609011527834134	0.17
18	2726451	A	C	18	2726453	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.A2702C:p.N901T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.A2702C:p.N901T;ENSG00000101596:ENST00000577880:exon11:c.A1115C:p.N372T;ENSG00000101596:ENST00000261598:exon22:c.A2702C:p.N901T;	0.00351937289493375	0.042
18	2726451	A	G	18	2726453	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.A2702G:p.N901S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.A2702G:p.N901S;ENSG00000101596:ENST00000577880:exon11:c.A1115G:p.N372S;ENSG00000101596:ENST00000261598:exon22:c.A2702G:p.N901S;	0.00512766345078863	0.018
18	2726451	A	T	18	2726453	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.A2702T:p.N901I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.A2702T:p.N901I;ENSG00000101596:ENST00000577880:exon11:c.A1115T:p.N372I;ENSG00000101596:ENST00000261598:exon22:c.A2702T:p.N901I;	0.00301369315372413	0.022
18	2726520	C	A	18	2726522	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.C2771A:p.P924H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.C2771A:p.P924H;ENSG00000101596:ENST00000577880:exon11:c.C1184A:p.P395H;ENSG00000101596:ENST00000261598:exon22:c.C2771A:p.P924H;	0.00429877035971185	0.132
18	2726520	C	G	18	2726522	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.C2771G:p.P924R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.C2771G:p.P924R;ENSG00000101596:ENST00000577880:exon11:c.C1184G:p.P395R;ENSG00000101596:ENST00000261598:exon22:c.C2771G:p.P924R;	0.0675939178499122	0.386
18	2726520	C	T	18	2726522	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.C2771T:p.P924L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.C2771T:p.P924L;ENSG00000101596:ENST00000577880:exon11:c.C1184T:p.P395L;ENSG00000101596:ENST00000261598:exon22:c.C2771T:p.P924L;	0.597106599854818	0.586
18	2726521	T	A	18	2726523	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon22:c.T2772A:p.P924P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.T2772A:p.P924P;ENSG00000101596:ENST00000577880:exon11:c.T1185A:p.P395P;ENSG00000101596:ENST00000261598:exon22:c.T2772A:p.P924P;	9.22121246051787E-4	0.222
18	2726521	T	C	18	2726523	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon22:c.T2772C:p.P924P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.T2772C:p.P924P;ENSG00000101596:ENST00000577880:exon11:c.T1185C:p.P395P;ENSG00000101596:ENST00000261598:exon22:c.T2772C:p.P924P;	6.24159880057745E-4	0.038
18	2726521	T	G	18	2726523	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon22:c.T2772G:p.P924P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.T2772G:p.P924P;ENSG00000101596:ENST00000577880:exon11:c.T1185G:p.P395P;ENSG00000101596:ENST00000261598:exon22:c.T2772G:p.P924P;	6.09180093545184E-4	0.118
18	2726522	G	A	18	2726524	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.G2773A:p.G925S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.G2773A:p.G925S;ENSG00000101596:ENST00000577880:exon11:c.G1186A:p.G396S;ENSG00000101596:ENST00000261598:exon22:c.G2773A:p.G925S;	0.999979433163194	0.994
18	2726522	G	C	18	2726524	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.G2773C:p.G925R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.G2773C:p.G925R;ENSG00000101596:ENST00000577880:exon11:c.G1186C:p.G396R;ENSG00000101596:ENST00000261598:exon22:c.G2773C:p.G925R;	0.999988513646099	0.996
18	2726522	G	T	18	2726524	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon22:c.G2773T:p.G925C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon22:c.G2773T:p.G925C;ENSG00000101596:ENST00000577880:exon11:c.G1186T:p.G396C;ENSG00000101596:ENST00000261598:exon22:c.G2773T:p.G925C;	0.99997581808173	0.996
18	2726523	G	A	18	2726525	y	y	splicing	SMCHD1(NM_015295:exon22:c.2773+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2773+1G>A;ENST00000261598:exon22:c.2773+1G>A;ENST00000577880:exon11:c.1186+1G>A;ENST00000584897:exon7:c.593+1G>A)	.	.	0.999955485601963	0.922
18	2726523	G	C	18	2726525	y	y	splicing	SMCHD1(NM_015295:exon22:c.2773+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2773+1G>C;ENST00000261598:exon22:c.2773+1G>C;ENST00000577880:exon11:c.1186+1G>C;ENST00000584897:exon7:c.593+1G>C)	.	.	0.999956785519844	0.88
18	2726523	G	T	18	2726525	y	y	splicing	SMCHD1(NM_015295:exon22:c.2773+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2773+1G>T;ENST00000261598:exon22:c.2773+1G>T;ENST00000577880:exon11:c.1186+1G>T;ENST00000584897:exon7:c.593+1G>T)	.	.	0.999955485601963	0.92
18	2726524	T	A	18	2726526	y	y	splicing	SMCHD1(NM_015295:exon22:c.2773+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2773+2T>A;ENST00000261598:exon22:c.2773+2T>A;ENST00000577880:exon11:c.1186+2T>A;ENST00000584897:exon7:c.593+2T>A)	.	.	0.999814500365738	0.748
18	2726524	T	C	18	2726526	y	y	splicing	SMCHD1(NM_015295:exon22:c.2773+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2773+2T>C;ENST00000261598:exon22:c.2773+2T>C;ENST00000577880:exon11:c.1186+2T>C;ENST00000584897:exon7:c.593+2T>C)	.	.	0.994701628681925	0.656
18	2726524	T	G	18	2726526	y	y	splicing	SMCHD1(NM_015295:exon22:c.2773+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon22:c.2773+2T>G;ENST00000261598:exon22:c.2773+2T>G;ENST00000577880:exon11:c.1186+2T>G;ENST00000584897:exon7:c.593+2T>G)	.	.	0.999831961687528	0.752
18	2726525	A	C	18	2726527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999509224544312	0.83
18	2726525	A	G	18	2726527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998966900358057	0.758
18	2726525	A	T	18	2726527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999509224544312	0.85
18	2726526	A	C	18	2726528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.989153620832355	0.666
18	2726526	A	G	18	2726528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99874601257561	0.826
18	2726526	A	T	18	2726528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.953990474445455	0.78
18	2726527	T	A	18	2726529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.8993849329444E-4	0.062
18	2726527	T	C	18	2726529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.19634240609921E-4	0.056
18	2726527	T	G	18	2726529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.30518629728556E-4	0.11
18	2726528	A	C	18	2726530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.28424496764499E-4	0.078
18	2726528	A	G	18	2726530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.63300923126296E-5	0.002
18	2726528	A	T	18	2726530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.59322627106912E-5	0.048
18	2726529	T	A	18	2726531	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.36447816093575E-5	0.002
18	2726529	T	C	18	2726531	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.66747902511475E-5	0.008
18	2726529	T	G	18	2726531	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.63681085077979E-5	0.008
18	2726530	T	A	18	2726532	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.60017649155253E-4	0.034
18	2726530	T	C	18	2726532	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.05023717832283E-5	0.034
18	2726530	T	G	18	2726532	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.28459636223152E-5	0.014
18	2728443	A	C	18	2728445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.32208773839594E-4	0.016
18	2728443	A	G	18	2728445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997517703178063	0.888
18	2728443	A	T	18	2728445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.29686405348411E-4	0.036
18	2728444	T	A	18	2728446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.423419025509486	0.672
18	2728444	T	C	18	2728446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0820304084170795	0.336
18	2728444	T	G	18	2728446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999944925008078	0.972
18	2728445	T	A	18	2728447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.75113394652917	0.528
18	2728445	T	C	18	2728447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00136926762253177	0.122
18	2728445	T	G	18	2728447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0247840675596093	0.416
18	2728446	T	A	18	2728448	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.226057767182469	0.7
18	2728446	T	C	18	2728448	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00112215319866128	0.06
18	2728446	T	G	18	2728448	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.225007349282031	0.62
18	2728447	A	C	18	2728449	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.53559187016586E-5	0.0
18	2728447	A	G	18	2728449	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.75130897653928E-5	0.002
18	2728447	A	T	18	2728449	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.06481237244302E-5	0.0
18	2728448	C	A	18	2728450	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.004519555603649	0.102
18	2728448	C	G	18	2728450	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999820449492631	0.97
18	2728448	C	T	18	2728450	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.69228527436979E-5	0.002
18	2728449	T	A	18	2728451	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999933328169969	0.968
18	2728449	T	C	18	2728451	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.49773145487667E-5	0.01
18	2728449	T	G	18	2728451	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.106475107969496	0.402
18	2728450	G	A	18	2728452	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.5284437504179E-5	0.002
18	2728450	G	C	18	2728452	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.64552458982511E-5	0.0
18	2728450	G	T	18	2728452	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.05219971416295E-4	0.02
18	2728451	T	A	18	2728453	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.95415133473963E-4	0.008
18	2728451	T	C	18	2728453	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.25077730431127E-5	0.014
18	2728451	T	G	18	2728453	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.84574974383333E-4	0.062
18	2728452	T	A	18	2728454	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.241007081988149	0.486
18	2728452	T	C	18	2728454	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.05779755435602E-5	0.064
18	2728452	T	G	18	2728454	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.994291577980854	0.718
18	2728453	A	C	18	2728455	y	y	splicing	SMCHD1(NM_015295:exon23:c.2774-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2774-2A>C;ENST00000261598:exon23:c.2774-2A>C;ENST00000577880:exon12:c.1187-2A>C;ENST00000584897:exon8:c.594-2A>C)	.	.	0.999984399620937	0.758
18	2728453	A	G	18	2728455	y	y	splicing	SMCHD1(NM_015295:exon23:c.2774-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2774-2A>G;ENST00000261598:exon23:c.2774-2A>G;ENST00000577880:exon12:c.1187-2A>G;ENST00000584897:exon8:c.594-2A>G)	.	.	0.999984399620937	0.758
18	2728453	A	T	18	2728455	y	y	splicing	SMCHD1(NM_015295:exon23:c.2774-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2774-2A>T;ENST00000261598:exon23:c.2774-2A>T;ENST00000577880:exon12:c.1187-2A>T;ENST00000584897:exon8:c.594-2A>T)	.	.	0.999980255680118	0.754
18	2728454	G	A	18	2728456	y	y	splicing	SMCHD1(NM_015295:exon23:c.2774-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2774-1G>A;ENST00000261598:exon23:c.2774-1G>A;ENST00000577880:exon12:c.1187-1G>A;ENST00000584897:exon8:c.594-1G>A)	.	.	0.999983806599646	0.822
18	2728454	G	C	18	2728456	y	y	splicing	SMCHD1(NM_015295:exon23:c.2774-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2774-1G>C;ENST00000261598:exon23:c.2774-1G>C;ENST00000577880:exon12:c.1187-1G>C;ENST00000584897:exon8:c.594-1G>C)	.	.	0.999983806599646	0.774
18	2728454	G	T	18	2728456	y	y	splicing	SMCHD1(NM_015295:exon23:c.2774-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2774-1G>T;ENST00000261598:exon23:c.2774-1G>T;ENST00000577880:exon12:c.1187-1G>T;ENST00000584897:exon8:c.594-1G>T)	.	.	0.999983806599646	0.806
18	2728455	G	A	18	2728457	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.G2774A:p.G925D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.G2774A:p.G925D;ENSG00000101596:ENST00000577880:exon12:c.G1187A:p.G396D;ENSG00000101596:ENST00000261598:exon23:c.G2774A:p.G925D;	0.999809724093159	0.928
18	2728455	G	C	18	2728457	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.G2774C:p.G925A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.G2774C:p.G925A;ENSG00000101596:ENST00000577880:exon12:c.G1187C:p.G396A;ENSG00000101596:ENST00000261598:exon23:c.G2774C:p.G925A;	0.99988417521719	0.96
18	2728455	G	T	18	2728457	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.G2774T:p.G925V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.G2774T:p.G925V;ENSG00000101596:ENST00000577880:exon12:c.G1187T:p.G396V;ENSG00000101596:ENST00000261598:exon23:c.G2774T:p.G925V;	0.999855571492251	0.988
18	2728456	T	A	18	2728458	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon23:c.T2775A:p.G925G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.T2775A:p.G925G;ENSG00000101596:ENST00000577880:exon12:c.T1188A:p.G396G;ENSG00000101596:ENST00000261598:exon23:c.T2775A:p.G925G;	6.49404984301052E-4	0.07
18	2728456	T	C	18	2728458	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon23:c.T2775C:p.G925G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.T2775C:p.G925G;ENSG00000101596:ENST00000577880:exon12:c.T1188C:p.G396G;ENSG00000101596:ENST00000261598:exon23:c.T2775C:p.G925G;	0.00216718379616952	0.06
18	2728456	T	G	18	2728458	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon23:c.T2775G:p.G925G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.T2775G:p.G925G;ENSG00000101596:ENST00000577880:exon12:c.T1188G:p.G396G;ENSG00000101596:ENST00000261598:exon23:c.T2775G:p.G925G;	5.16482140694288E-4	0.06
18	2728592	A	C	18	2728594	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.A2911C:p.K971Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.A2911C:p.K971Q;ENSG00000101596:ENST00000577880:exon12:c.A1324C:p.K442Q;ENSG00000101596:ENST00000261598:exon23:c.A2911C:p.K971Q;	0.804289129223404	0.562
18	2728592	A	G	18	2728594	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.A2911G:p.K971E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.A2911G:p.K971E;ENSG00000101596:ENST00000577880:exon12:c.A1324G:p.K442E;ENSG00000101596:ENST00000261598:exon23:c.A2911G:p.K971E;	0.405294644460077	0.446
18	2728592	A	T	18	2728594	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon23:c.A2911T:p.K971X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon23:c.A2911T:p.K971X;ENSG00000101596:ENST00000577880:exon12:c.A1324T:p.K442X;ENSG00000101596:ENST00000261598:exon23:c.A2911T:p.K971X;	0.96990788679876	0.72
18	2728593	A	C	18	2728595	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.A2912C:p.K971T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.A2912C:p.K971T;ENSG00000101596:ENST00000577880:exon12:c.A1325C:p.K442T;ENSG00000101596:ENST00000261598:exon23:c.A2912C:p.K971T;	0.990878469206079	0.852
18	2728593	A	G	18	2728595	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.A2912G:p.K971R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.A2912G:p.K971R;ENSG00000101596:ENST00000577880:exon12:c.A1325G:p.K442R;ENSG00000101596:ENST00000261598:exon23:c.A2912G:p.K971R;	0.991269663302772	0.87
18	2728593	A	T	18	2728595	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.A2912T:p.K971M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.A2912T:p.K971M;ENSG00000101596:ENST00000577880:exon12:c.A1325T:p.K442M;ENSG00000101596:ENST00000261598:exon23:c.A2912T:p.K971M;	0.993799597976391	0.646
18	2728594	G	A	18	2728596	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon23:c.G2913A:p.K971K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.G2913A:p.K971K;ENSG00000101596:ENST00000577880:exon12:c.G1326A:p.K442K;ENSG00000101596:ENST00000261598:exon23:c.G2913A:p.K971K;	0.999833332967082	0.95
18	2728594	G	C	18	2728596	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.G2913C:p.K971N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.G2913C:p.K971N;ENSG00000101596:ENST00000577880:exon12:c.G1326C:p.K442N;ENSG00000101596:ENST00000261598:exon23:c.G2913C:p.K971N;	0.999978976062675	0.946
18	2728594	G	T	18	2728596	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon23:c.G2913T:p.K971N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon23:c.G2913T:p.K971N;ENSG00000101596:ENST00000577880:exon12:c.G1326T:p.K442N;ENSG00000101596:ENST00000261598:exon23:c.G2913T:p.K971N;	0.999965940487197	0.976
18	2728595	G	A	18	2728597	y	y	splicing	SMCHD1(NM_015295:exon23:c.2913+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2913+1G>A;ENST00000261598:exon23:c.2913+1G>A;ENST00000577880:exon12:c.1326+1G>A;ENST00000584897:exon8:c.733+1G>A)	.	.	0.999990361384395	0.938
18	2728595	G	C	18	2728597	y	y	splicing	SMCHD1(NM_015295:exon23:c.2913+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2913+1G>C;ENST00000261598:exon23:c.2913+1G>C;ENST00000577880:exon12:c.1326+1G>C;ENST00000584897:exon8:c.733+1G>C)	.	.	0.999990361384395	0.936
18	2728595	G	T	18	2728597	y	y	splicing	SMCHD1(NM_015295:exon23:c.2913+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2913+1G>T;ENST00000261598:exon23:c.2913+1G>T;ENST00000577880:exon12:c.1326+1G>T;ENST00000584897:exon8:c.733+1G>T)	.	.	0.999990361384395	0.938
18	2728596	T	A	18	2728598	y	y	splicing	SMCHD1(NM_015295:exon23:c.2913+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2913+2T>A;ENST00000261598:exon23:c.2913+2T>A;ENST00000577880:exon12:c.1326+2T>A;ENST00000584897:exon8:c.733+2T>A)	.	.	0.999988247793601	0.93
18	2728596	T	C	18	2728598	y	y	splicing	SMCHD1(NM_015295:exon23:c.2913+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2913+2T>C;ENST00000261598:exon23:c.2913+2T>C;ENST00000577880:exon12:c.1326+2T>C;ENST00000584897:exon8:c.733+2T>C)	.	.	0.98918007292081	0.68
18	2728596	T	G	18	2728598	y	y	splicing	SMCHD1(NM_015295:exon23:c.2913+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon23:c.2913+2T>G;ENST00000261598:exon23:c.2913+2T>G;ENST00000577880:exon12:c.1326+2T>G;ENST00000584897:exon8:c.733+2T>G)	.	.	0.999988247793601	0.93
18	2728597	A	C	18	2728599	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.928485440476118	0.722
18	2728597	A	G	18	2728599	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00200736286699014	0.134
18	2728597	A	T	18	2728599	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.987369945234987	0.692
18	2728598	A	C	18	2728600	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.877788520458229	0.648
18	2728598	A	G	18	2728600	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.873857821901278	0.684
18	2728598	A	T	18	2728600	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.946517760746962	0.676
18	2728599	G	A	18	2728601	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.699407047994188	0.592
18	2728599	G	C	18	2728601	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.659178954571135	0.526
18	2728599	G	T	18	2728601	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.96769328425883	0.694
18	2728600	C	A	18	2728602	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.04385600327201E-5	0.016
18	2728600	C	G	18	2728602	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.5197874158857E-4	0.032
18	2728600	C	T	18	2728602	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.20388347666097E-5	0.008
18	2728601	T	A	18	2728603	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.8022328119087E-5	0.0
18	2728601	T	C	18	2728603	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.51038555408656E-5	0.002
18	2728601	T	G	18	2728603	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.45968337986762E-5	0.002
18	2728602	T	A	18	2728604	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26265784421591E-4	0.012
18	2728602	T	C	18	2728604	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26265784421591E-4	0.012
18	2728602	T	G	18	2728604	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.10691382383355E-4	0.016
18	2729261	T	A	18	2729263	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.103532332898813	0.53
18	2729261	T	C	18	2729263	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00139484115106497	0.11
18	2729261	T	G	18	2729263	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999914307577051	0.966
18	2729262	C	A	18	2729264	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.57455481052293E-4	0.022
18	2729262	C	G	18	2729264	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.53166185998342E-4	0.044
18	2729262	C	T	18	2729264	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71641570339139E-5	0.0
18	2729263	T	A	18	2729265	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.231156392382668	0.252
18	2729263	T	C	18	2729265	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.48071870088716E-4	0.042
18	2729263	T	G	18	2729265	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0041304064029855	0.306
18	2729264	T	A	18	2729266	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.715281654176174	0.626
18	2729264	T	C	18	2729266	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.38488443625504E-4	0.034
18	2729264	T	G	18	2729266	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.258223858050633	0.574
18	2729265	T	A	18	2729267	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00224406927644113	0.292
18	2729265	T	C	18	2729267	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.6125214718452E-5	0.002
18	2729265	T	G	18	2729267	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00468839036368262	0.406
18	2729266	C	A	18	2729268	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00822804480888084	0.164
18	2729266	C	G	18	2729268	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00481976004016442	0.088
18	2729266	C	T	18	2729268	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.21862582179225E-5	0.002
18	2729267	A	C	18	2729269	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.79798266384224E-6	0.0
18	2729267	A	G	18	2729269	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.55009423244992E-5	0.002
18	2729267	A	T	18	2729269	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.25546699188437E-6	0.0
18	2729268	A	C	18	2729270	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.44417574965911E-5	0.002
18	2729268	A	G	18	2729270	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997883075099471	0.99
18	2729268	A	T	18	2729270	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.02426412855939E-5	0.052
18	2729269	A	C	18	2729271	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.80508935860531E-4	0.01
18	2729269	A	G	18	2729271	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99967610679679	0.934
18	2729269	A	T	18	2729271	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.87884273332368E-4	0.01
18	2729270	T	A	18	2729272	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0526901176233712	0.36
18	2729270	T	C	18	2729272	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.88512869882715E-5	0.026
18	2729270	T	G	18	2729272	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.986210518903282	0.628
18	2729271	A	C	18	2729273	y	y	splicing	SMCHD1(NM_015295:exon24:c.2914-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.2914-2A>C;ENST00000261598:exon24:c.2914-2A>C;ENST00000577880:exon13:c.1327-2A>C;ENST00000584897:exon9:c.734-2A>C)	.	.	0.999986741007567	0.942
18	2729271	A	G	18	2729273	y	y	splicing	SMCHD1(NM_015295:exon24:c.2914-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.2914-2A>G;ENST00000261598:exon24:c.2914-2A>G;ENST00000577880:exon13:c.1327-2A>G;ENST00000584897:exon9:c.734-2A>G)	.	.	0.999986741007567	0.942
18	2729271	A	T	18	2729273	y	y	splicing	SMCHD1(NM_015295:exon24:c.2914-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.2914-2A>T;ENST00000261598:exon24:c.2914-2A>T;ENST00000577880:exon13:c.1327-2A>T;ENST00000584897:exon9:c.734-2A>T)	.	.	0.999986741007567	0.942
18	2729272	G	A	18	2729274	y	y	splicing	SMCHD1(NM_015295:exon24:c.2914-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.2914-1G>A;ENST00000261598:exon24:c.2914-1G>A;ENST00000577880:exon13:c.1327-1G>A;ENST00000584897:exon9:c.734-1G>A)	.	.	0.999983677848485	0.944
18	2729272	G	C	18	2729274	y	y	splicing	SMCHD1(NM_015295:exon24:c.2914-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.2914-1G>C;ENST00000261598:exon24:c.2914-1G>C;ENST00000577880:exon13:c.1327-1G>C;ENST00000584897:exon9:c.734-1G>C)	.	.	0.999983677848485	0.944
18	2729272	G	T	18	2729274	y	y	splicing	SMCHD1(NM_015295:exon24:c.2914-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.2914-1G>T;ENST00000261598:exon24:c.2914-1G>T;ENST00000577880:exon13:c.1327-1G>T;ENST00000584897:exon9:c.734-1G>T)	.	.	0.999983677848485	0.944
18	2729273	T	A	18	2729275	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.T2914A:p.F972I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T2914A:p.F972I;ENSG00000101596:ENST00000577880:exon13:c.T1327A:p.F443I;ENSG00000101596:ENST00000261598:exon24:c.T2914A:p.F972I;	0.0130800440497214	0.14
18	2729273	T	C	18	2729275	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.T2914C:p.F972L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T2914C:p.F972L;ENSG00000101596:ENST00000577880:exon13:c.T1327C:p.F443L;ENSG00000101596:ENST00000261598:exon24:c.T2914C:p.F972L;	0.00146858458479196	0.07
18	2729273	T	G	18	2729275	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.T2914G:p.F972V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T2914G:p.F972V;ENSG00000101596:ENST00000577880:exon13:c.T1327G:p.F443V;ENSG00000101596:ENST00000261598:exon24:c.T2914G:p.F972V;	0.00181465835096235	0.076
18	2729274	T	A	18	2729276	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.T2915A:p.F972Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T2915A:p.F972Y;ENSG00000101596:ENST00000577880:exon13:c.T1328A:p.F443Y;ENSG00000101596:ENST00000261598:exon24:c.T2915A:p.F972Y;	0.787555107329926	0.408
18	2729274	T	C	18	2729276	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.T2915C:p.F972S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T2915C:p.F972S;ENSG00000101596:ENST00000577880:exon13:c.T1328C:p.F443S;ENSG00000101596:ENST00000261598:exon24:c.T2915C:p.F972S;	0.846191531493238	0.438
18	2729274	T	G	18	2729276	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.T2915G:p.F972C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T2915G:p.F972C;ENSG00000101596:ENST00000577880:exon13:c.T1328G:p.F443C;ENSG00000101596:ENST00000261598:exon24:c.T2915G:p.F972C;	0.851455832964529	0.404
18	2729405	C	A	18	2729407	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.C3046A:p.P1016T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.C3046A:p.P1016T;ENSG00000101596:ENST00000577880:exon13:c.C1459A:p.P487T;ENSG00000101596:ENST00000261598:exon24:c.C3046A:p.P1016T;	0.941109555176056	0.78
18	2729405	C	G	18	2729407	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.C3046G:p.P1016A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.C3046G:p.P1016A;ENSG00000101596:ENST00000577880:exon13:c.C1459G:p.P487A;ENSG00000101596:ENST00000261598:exon24:c.C3046G:p.P1016A;	0.906722482240863	0.642
18	2729405	C	T	18	2729407	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.C3046T:p.P1016S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.C3046T:p.P1016S;ENSG00000101596:ENST00000577880:exon13:c.C1459T:p.P487S;ENSG00000101596:ENST00000261598:exon24:c.C3046T:p.P1016S;	0.998028695641465	0.754
18	2729406	C	A	18	2729408	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.C3047A:p.P1016H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.C3047A:p.P1016H;ENSG00000101596:ENST00000577880:exon13:c.C1460A:p.P487H;ENSG00000101596:ENST00000261598:exon24:c.C3047A:p.P1016H;	0.94290381496277	0.69
18	2729406	C	G	18	2729408	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.C3047G:p.P1016R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.C3047G:p.P1016R;ENSG00000101596:ENST00000577880:exon13:c.C1460G:p.P487R;ENSG00000101596:ENST00000261598:exon24:c.C3047G:p.P1016R;	0.984251948725963	0.85
18	2729406	C	T	18	2729408	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon24:c.C3047T:p.P1016L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.C3047T:p.P1016L;ENSG00000101596:ENST00000577880:exon13:c.C1460T:p.P487L;ENSG00000101596:ENST00000261598:exon24:c.C3047T:p.P1016L;	0.888376842220736	0.596
18	2729407	T	A	18	2729409	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon24:c.T3048A:p.P1016P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T3048A:p.P1016P;ENSG00000101596:ENST00000577880:exon13:c.T1461A:p.P487P;ENSG00000101596:ENST00000261598:exon24:c.T3048A:p.P1016P;	7.77342827040236E-5	0.016
18	2729407	T	C	18	2729409	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon24:c.T3048C:p.P1016P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T3048C:p.P1016P;ENSG00000101596:ENST00000577880:exon13:c.T1461C:p.P487P;ENSG00000101596:ENST00000261598:exon24:c.T3048C:p.P1016P;	7.46526312802772E-4	0.228
18	2729407	T	G	18	2729409	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon24:c.T3048G:p.P1016P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon24:c.T3048G:p.P1016P;ENSG00000101596:ENST00000577880:exon13:c.T1461G:p.P487P;ENSG00000101596:ENST00000261598:exon24:c.T3048G:p.P1016P;	1.62657799757846E-4	0.032
18	2729408	G	A	18	2729410	y	y	splicing	SMCHD1(NM_015295:exon24:c.3048+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.3048+1G>A;ENST00000261598:exon24:c.3048+1G>A;ENST00000577880:exon13:c.1461+1G>A;ENST00000584897:exon9:c.868+1G>A)	.	.	0.999985532734767	0.936
18	2729408	G	C	18	2729410	y	y	splicing	SMCHD1(NM_015295:exon24:c.3048+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.3048+1G>C;ENST00000261598:exon24:c.3048+1G>C;ENST00000577880:exon13:c.1461+1G>C;ENST00000584897:exon9:c.868+1G>C)	.	.	0.999985532734767	0.936
18	2729408	G	T	18	2729410	y	y	splicing	SMCHD1(NM_015295:exon24:c.3048+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.3048+1G>T;ENST00000261598:exon24:c.3048+1G>T;ENST00000577880:exon13:c.1461+1G>T;ENST00000584897:exon9:c.868+1G>T)	.	.	0.999985532734767	0.936
18	2729409	T	A	18	2729411	y	y	splicing	SMCHD1(NM_015295:exon24:c.3048+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.3048+2T>A;ENST00000261598:exon24:c.3048+2T>A;ENST00000577880:exon13:c.1461+2T>A;ENST00000584897:exon9:c.868+2T>A)	.	.	0.999988247793601	0.928
18	2729409	T	C	18	2729411	y	y	splicing	SMCHD1(NM_015295:exon24:c.3048+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.3048+2T>C;ENST00000261598:exon24:c.3048+2T>C;ENST00000577880:exon13:c.1461+2T>C;ENST00000584897:exon9:c.868+2T>C)	.	.	0.98918007292081	0.644
18	2729409	T	G	18	2729411	y	y	splicing	SMCHD1(NM_015295:exon24:c.3048+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon24:c.3048+2T>G;ENST00000261598:exon24:c.3048+2T>G;ENST00000577880:exon13:c.1461+2T>G;ENST00000584897:exon9:c.868+2T>G)	.	.	0.999988247793601	0.928
18	2729410	A	C	18	2729412	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999573767094053	0.936
18	2729410	A	G	18	2729412	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.523515869516971	0.292
18	2729410	A	T	18	2729412	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99972125565525	0.97
18	2729411	A	C	18	2729413	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.986371959695244	0.798
18	2729411	A	G	18	2729413	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.991409512317131	0.848
18	2729411	A	T	18	2729413	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998955476462827	0.924
18	2729412	G	A	18	2729414	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999982489778049	0.986
18	2729412	G	C	18	2729414	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999994311442915	0.94
18	2729412	G	T	18	2729414	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999980666655472	0.978
18	2729413	T	A	18	2729415	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.989450102039789	0.64
18	2729413	T	C	18	2729415	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.935759335868511	0.678
18	2729413	T	G	18	2729415	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.685167349523524	0.582
18	2729414	T	A	18	2729416	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.3390662739082E-5	0.024
18	2729414	T	C	18	2729416	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.42521847387537E-5	0.026
18	2729414	T	G	18	2729416	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.82932067027158E-5	0.036
18	2729415	A	C	18	2729417	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.81080910446018E-6	0.002
18	2729415	A	G	18	2729417	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.59362804531E-6	0.002
18	2729415	A	T	18	2729417	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.81080910446018E-6	0.004
18	2732251	T	A	18	2732253	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.10164167283116E-5	0.022
18	2732251	T	C	18	2732253	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.07849203452592E-5	0.0
18	2732251	T	G	18	2732253	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.55005437007787E-5	0.038
18	2732252	T	A	18	2732254	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00204196578162583	0.268
18	2732252	T	C	18	2732254	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.04599594049431E-4	0.042
18	2732252	T	G	18	2732254	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.64113744347727E-4	0.13
18	2732253	C	A	18	2732255	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.17643138883035E-4	0.016
18	2732253	C	G	18	2732255	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.19995603943277E-5	0.032
18	2732253	C	T	18	2732255	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.48825058396372E-5	0.002
18	2732254	T	A	18	2732256	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00134443745731694	0.142
18	2732254	T	C	18	2732256	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.410329217088E-4	0.004
18	2732254	T	G	18	2732256	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00198041284221265	0.196
18	2732255	C	A	18	2732257	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.78663358118561E-4	0.056
18	2732255	C	G	18	2732257	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.23227951469717E-4	0.028
18	2732255	C	T	18	2732257	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.40673721319873E-5	0.004
18	2732256	T	A	18	2732258	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00201453653382754	0.128
18	2732256	T	C	18	2732258	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.7572010565439E-4	0.024
18	2732256	T	G	18	2732258	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.29648687371602E-4	0.118
18	2732257	T	A	18	2732259	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00131778839630695	0.072
18	2732257	T	C	18	2732259	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.75742691934271E-5	0.002
18	2732257	T	G	18	2732259	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00233629998609425	0.132
18	2732258	T	A	18	2732260	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.4269727205216E-4	0.132
18	2732258	T	C	18	2732260	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.11091357115861E-5	0.0
18	2732258	T	G	18	2732260	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00100968608937888	0.074
18	2732259	C	A	18	2732261	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.08908259174136E-5	0.026
18	2732259	C	G	18	2732261	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.42070179408651E-5	0.026
18	2732259	C	T	18	2732261	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.98548195693904E-5	0.028
18	2732260	T	A	18	2732262	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00268790332477369	0.2
18	2732260	T	C	18	2732262	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.67866856245719E-5	0.038
18	2732260	T	G	18	2732262	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.986314945589592	0.672
18	2732261	A	C	18	2732263	y	y	splicing	SMCHD1(NM_015295:exon25:c.3049-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3049-2A>C;ENST00000261598:exon25:c.3049-2A>C;ENST00000577880:exon14:c.1462-2A>C;ENST00000584897:exon10:c.869-2A>C)	.	.	0.999970104448312	0.87
18	2732261	A	G	18	2732263	y	y	splicing	SMCHD1(NM_015295:exon25:c.3049-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3049-2A>G;ENST00000261598:exon25:c.3049-2A>G;ENST00000577880:exon14:c.1462-2A>G;ENST00000584897:exon10:c.869-2A>G)	.	.	0.999970104448312	0.888
18	2732261	A	T	18	2732263	y	y	splicing	SMCHD1(NM_015295:exon25:c.3049-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3049-2A>T;ENST00000261598:exon25:c.3049-2A>T;ENST00000577880:exon14:c.1462-2A>T;ENST00000584897:exon10:c.869-2A>T)	.	.	0.999978156327223	0.932
18	2732262	G	A	18	2732264	y	y	splicing	SMCHD1(NM_015295:exon25:c.3049-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3049-1G>A;ENST00000261598:exon25:c.3049-1G>A;ENST00000577880:exon14:c.1462-1G>A;ENST00000584897:exon10:c.869-1G>A)	.	.	0.999915710762489	0.944
18	2732262	G	C	18	2732264	y	y	splicing	SMCHD1(NM_015295:exon25:c.3049-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3049-1G>C;ENST00000261598:exon25:c.3049-1G>C;ENST00000577880:exon14:c.1462-1G>C;ENST00000584897:exon10:c.869-1G>C)	.	.	0.999915710762489	0.954
18	2732262	G	T	18	2732264	y	y	splicing	SMCHD1(NM_015295:exon25:c.3049-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3049-1G>T;ENST00000261598:exon25:c.3049-1G>T;ENST00000577880:exon14:c.1462-1G>T;ENST00000584897:exon10:c.869-1G>T)	.	.	0.999915710762489	0.954
18	2732263	A	C	18	2732265	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3049C:p.S1017R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3049C:p.S1017R;ENSG00000101596:ENST00000577880:exon14:c.A1462C:p.S488R;ENSG00000101596:ENST00000261598:exon25:c.A3049C:p.S1017R;	0.0405272519920658	0.354
18	2732263	A	G	18	2732265	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3049G:p.S1017G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3049G:p.S1017G;ENSG00000101596:ENST00000577880:exon14:c.A1462G:p.S488G;ENSG00000101596:ENST00000261598:exon25:c.A3049G:p.S1017G;	9.9478695372994E-4	0.016
18	2732263	A	T	18	2732265	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3049T:p.S1017C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3049T:p.S1017C;ENSG00000101596:ENST00000577880:exon14:c.A1462T:p.S488C;ENSG00000101596:ENST00000261598:exon25:c.A3049T:p.S1017C;	0.00516710670548169	0.05
18	2732264	G	A	18	2732266	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3050A:p.S1017N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.G3050A:p.S1017N;ENSG00000101596:ENST00000577880:exon14:c.G1463A:p.S488N;ENSG00000101596:ENST00000261598:exon25:c.G3050A:p.S1017N;	0.00532282158550779	0.074
18	2732264	G	C	18	2732266	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3050C:p.S1017T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.G3050C:p.S1017T;ENSG00000101596:ENST00000577880:exon14:c.G1463C:p.S488T;ENSG00000101596:ENST00000261598:exon25:c.G3050C:p.S1017T;	8.47670012170817E-4	0.034
18	2732264	G	T	18	2732266	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3050T:p.S1017I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.G3050T:p.S1017I;ENSG00000101596:ENST00000577880:exon14:c.G1463T:p.S488I;ENSG00000101596:ENST00000261598:exon25:c.G3050T:p.S1017I;	0.31113524079826	0.262
18	2732488	A	C	18	2732490	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3274C:p.K1092Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3274C:p.K1092Q;ENSG00000101596:ENST00000577880:exon14:c.A1687C:p.K563Q;ENSG00000101596:ENST00000261598:exon25:c.A3274C:p.K1092Q;	0.625271575346635	0.732
18	2732488	A	G	18	2732490	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3274G:p.K1092E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3274G:p.K1092E;ENSG00000101596:ENST00000577880:exon14:c.A1687G:p.K563E;ENSG00000101596:ENST00000261598:exon25:c.A3274G:p.K1092E;	0.173869799620816	0.52
18	2732488	A	T	18	2732490	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon25:c.A3274T:p.K1092X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon25:c.A3274T:p.K1092X;ENSG00000101596:ENST00000577880:exon14:c.A1687T:p.K563X;ENSG00000101596:ENST00000261598:exon25:c.A3274T:p.K1092X;	0.937515091583844	0.666
18	2732489	A	C	18	2732491	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3275C:p.K1092T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3275C:p.K1092T;ENSG00000101596:ENST00000577880:exon14:c.A1688C:p.K563T;ENSG00000101596:ENST00000261598:exon25:c.A3275C:p.K1092T;	0.989934970774055	0.942
18	2732489	A	G	18	2732491	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3275G:p.K1092R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3275G:p.K1092R;ENSG00000101596:ENST00000577880:exon14:c.A1688G:p.K563R;ENSG00000101596:ENST00000261598:exon25:c.A3275G:p.K1092R;	0.988512678654145	0.928
18	2732489	A	T	18	2732491	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3275T:p.K1092I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3275T:p.K1092I;ENSG00000101596:ENST00000577880:exon14:c.A1688T:p.K563I;ENSG00000101596:ENST00000261598:exon25:c.A3275T:p.K1092I;	0.98866870298441	0.838
18	2732490	A	C	18	2732492	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3276C:p.K1092N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3276C:p.K1092N;ENSG00000101596:ENST00000577880:exon14:c.A1689C:p.K563N;ENSG00000101596:ENST00000261598:exon25:c.A3276C:p.K1092N;	0.00257360432460299	0.136
18	2732490	A	G	18	2732492	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon25:c.A3276G:p.K1092K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3276G:p.K1092K;ENSG00000101596:ENST00000577880:exon14:c.A1689G:p.K563K;ENSG00000101596:ENST00000261598:exon25:c.A3276G:p.K1092K;	9.37130195312106E-5	0.044
18	2732490	A	T	18	2732492	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.A3276T:p.K1092N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon25:c.A3276T:p.K1092N;ENSG00000101596:ENST00000577880:exon14:c.A1689T:p.K563N;ENSG00000101596:ENST00000261598:exon25:c.A3276T:p.K1092N;	0.0754052113398374	0.15
18	2732491	G	A	18	2732493	y	y	splicing	SMCHD1(NM_015295:exon25:c.3276+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3276+1G>A;ENST00000261598:exon25:c.3276+1G>A;ENST00000577880:exon14:c.1689+1G>A;ENST00000584897:exon10:c.1096+1G>A)	.	.	0.999981760802075	0.944
18	2732491	G	C	18	2732493	y	y	splicing	SMCHD1(NM_015295:exon25:c.3276+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3276+1G>C;ENST00000261598:exon25:c.3276+1G>C;ENST00000577880:exon14:c.1689+1G>C;ENST00000584897:exon10:c.1096+1G>C)	.	.	0.999981760802075	0.944
18	2732491	G	T	18	2732493	y	y	splicing	SMCHD1(NM_015295:exon25:c.3276+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3276+1G>T;ENST00000261598:exon25:c.3276+1G>T;ENST00000577880:exon14:c.1689+1G>T;ENST00000584897:exon10:c.1096+1G>T)	.	.	0.999981760802075	0.944
18	2732492	T	A	18	2732494	y	y	splicing	SMCHD1(NM_015295:exon25:c.3276+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3276+2T>A;ENST00000261598:exon25:c.3276+2T>A;ENST00000577880:exon14:c.1689+2T>A;ENST00000584897:exon10:c.1096+2T>A)	.	.	0.999989917668626	0.926
18	2732492	T	C	18	2732494	y	y	splicing	SMCHD1(NM_015295:exon25:c.3276+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3276+2T>C;ENST00000261598:exon25:c.3276+2T>C;ENST00000577880:exon14:c.1689+2T>C;ENST00000584897:exon10:c.1096+2T>C)	.	.	0.988809971481602	0.63
18	2732492	T	G	18	2732494	y	y	splicing	SMCHD1(NM_015295:exon25:c.3276+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon25:c.3276+2T>G;ENST00000261598:exon25:c.3276+2T>G;ENST00000577880:exon14:c.1689+2T>G;ENST00000584897:exon10:c.1096+2T>G)	.	.	0.999989917668626	0.914
18	2732493	A	C	18	2732495	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998992117473425	0.762
18	2732493	A	G	18	2732495	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.72951819858319E-4	0.036
18	2732493	A	T	18	2732495	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.869816780210675	0.52
18	2732494	A	C	18	2732496	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0829036918736902	0.294
18	2732494	A	G	18	2732496	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.625186681653322	0.454
18	2732494	A	T	18	2732496	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.551902709080391	0.376
18	2732495	G	A	18	2732497	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997124787452112	0.868
18	2732495	G	C	18	2732497	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.985660567613456	0.848
18	2732495	G	T	18	2732497	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998988075339171	0.89
18	2732496	T	A	18	2732498	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.917402151253069	0.678
18	2732496	T	C	18	2732498	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.641643786364103	0.666
18	2732496	T	G	18	2732498	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.817124263222551	0.624
18	2732497	A	C	18	2732499	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00200374185808666	0.022
18	2732497	A	G	18	2732499	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00205073575308636	0.022
18	2732497	A	T	18	2732499	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.42036712876231E-4	0.01
18	2732498	T	A	18	2732500	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00240371218639584	0.03
18	2732498	T	C	18	2732500	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00225014457990107	0.032
18	2732498	T	G	18	2732500	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00240371218639584	0.026
18	2738383	T	A	18	2738385	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.15628263392664E-4	0.048
18	2738383	T	C	18	2738385	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.27647593307644E-4	0.024
18	2738383	T	G	18	2738385	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.11824278759645E-4	0.05
18	2738384	T	A	18	2738386	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.31666168104862E-4	0.168
18	2738384	T	C	18	2738386	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.63458269937329E-5	0.026
18	2738384	T	G	18	2738386	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.09090777108003E-4	0.112
18	2738385	T	A	18	2738387	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0120295281775548	0.314
18	2738385	T	C	18	2738387	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00200977222134848	0.048
18	2738385	T	G	18	2738387	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00344768238478986	0.22
18	2738386	T	A	18	2738388	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.06970611662096E-5	0.178
18	2738386	T	C	18	2738388	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.87708809748002E-5	0.006
18	2738386	T	G	18	2738388	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.63327717993864E-5	0.102
18	2738387	T	A	18	2738389	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.10989196408387E-4	0.026
18	2738387	T	C	18	2738389	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.58810266852841E-5	0.002
18	2738387	T	G	18	2738389	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.75976727892105E-5	0.032
18	2738388	C	A	18	2738390	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.17367067040287E-4	0.036
18	2738388	C	G	18	2738390	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.13394497851184E-4	0.036
18	2738388	C	T	18	2738390	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.2896589078834E-5	0.008
18	2738389	T	A	18	2738391	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.48459895893177E-4	0.022
18	2738389	T	C	18	2738391	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.81572473635723E-5	0.004
18	2738389	T	G	18	2738391	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0012389788023154	0.108
18	2738390	C	A	18	2738392	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.82301414894585E-5	0.0
18	2738390	C	G	18	2738392	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.70057690937525E-5	0.01
18	2738390	C	T	18	2738392	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.65384719650273E-5	0.0
18	2738391	C	A	18	2738393	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.21954013338391E-5	0.002
18	2738391	C	G	18	2738393	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.17437582401423E-4	0.02
18	2738391	C	T	18	2738393	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.21954013338391E-5	0.0
18	2738392	T	A	18	2738394	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00167375745695364	0.174
18	2738392	T	C	18	2738394	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.16199408593132E-5	0.016
18	2738392	T	G	18	2738394	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.960983236769922	0.628
18	2738393	A	C	18	2738395	y	y	splicing	SMCHD1(NM_015295:exon26:c.3277-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3277-2A>C;ENST00000261598:exon26:c.3277-2A>C;ENST00000577880:exon15:c.1690-2A>C;ENST00000584897:exon11:c.1097-2A>C)	.	.	0.999986903042585	0.928
18	2738393	A	G	18	2738395	y	y	splicing	SMCHD1(NM_015295:exon26:c.3277-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3277-2A>G;ENST00000261598:exon26:c.3277-2A>G;ENST00000577880:exon15:c.1690-2A>G;ENST00000584897:exon11:c.1097-2A>G)	.	.	0.999986903042585	0.928
18	2738393	A	T	18	2738395	y	y	splicing	SMCHD1(NM_015295:exon26:c.3277-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3277-2A>T;ENST00000261598:exon26:c.3277-2A>T;ENST00000577880:exon15:c.1690-2A>T;ENST00000584897:exon11:c.1097-2A>T)	.	.	0.999989917668626	0.926
18	2738394	G	A	18	2738396	y	y	splicing	SMCHD1(NM_015295:exon26:c.3277-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3277-1G>A;ENST00000261598:exon26:c.3277-1G>A;ENST00000577880:exon15:c.1690-1G>A;ENST00000584897:exon11:c.1097-1G>A)	.	.	0.999982611538516	0.932
18	2738394	G	C	18	2738396	y	y	splicing	SMCHD1(NM_015295:exon26:c.3277-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3277-1G>C;ENST00000261598:exon26:c.3277-1G>C;ENST00000577880:exon15:c.1690-1G>C;ENST00000584897:exon11:c.1097-1G>C)	.	.	0.999982611538516	0.932
18	2738394	G	T	18	2738396	y	y	splicing	SMCHD1(NM_015295:exon26:c.3277-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3277-1G>T;ENST00000261598:exon26:c.3277-1G>T;ENST00000577880:exon15:c.1690-1G>T;ENST00000584897:exon11:c.1097-1G>T)	.	.	0.999982611538516	0.932
18	2738395	G	A	18	2738397	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.G3277A:p.V1093I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.G3277A:p.V1093I;ENSG00000101596:ENST00000577880:exon15:c.G1690A:p.V564I;ENSG00000101596:ENST00000261598:exon26:c.G3277A:p.V1093I;	0.996159924051645	0.766
18	2738395	G	C	18	2738397	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.G3277C:p.V1093L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.G3277C:p.V1093L;ENSG00000101596:ENST00000577880:exon15:c.G1690C:p.V564L;ENSG00000101596:ENST00000261598:exon26:c.G3277C:p.V1093L;	0.998941793932715	0.884
18	2738395	G	T	18	2738397	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.G3277T:p.V1093F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.G3277T:p.V1093F;ENSG00000101596:ENST00000577880:exon15:c.G1690T:p.V564F;ENSG00000101596:ENST00000261598:exon26:c.G3277T:p.V1093F;	0.99866128920913	0.772
18	2738396	T	A	18	2738398	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.T3278A:p.V1093D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.T3278A:p.V1093D;ENSG00000101596:ENST00000577880:exon15:c.T1691A:p.V564D;ENSG00000101596:ENST00000261598:exon26:c.T3278A:p.V1093D;	0.236904155204158	0.51
18	2738396	T	C	18	2738398	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.T3278C:p.V1093A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.T3278C:p.V1093A;ENSG00000101596:ENST00000577880:exon15:c.T1691C:p.V564A;ENSG00000101596:ENST00000261598:exon26:c.T3278C:p.V1093A;	0.236817756549134	0.508
18	2738396	T	G	18	2738398	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.T3278G:p.V1093G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.T3278G:p.V1093G;ENSG00000101596:ENST00000577880:exon15:c.T1691G:p.V564G;ENSG00000101596:ENST00000261598:exon26:c.T3278G:p.V1093G;	0.196505202514847	0.47
18	2738541	A	C	18	2738543	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon26:c.A3423C:p.V1141V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.A3423C:p.V1141V;ENSG00000101596:ENST00000577880:exon15:c.A1836C:p.V612V;ENSG00000101596:ENST00000261598:exon26:c.A3423C:p.V1141V;	0.00100169514640328	0.138
18	2738541	A	G	18	2738543	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon26:c.A3423G:p.V1141V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.A3423G:p.V1141V;ENSG00000101596:ENST00000577880:exon15:c.A1836G:p.V612V;ENSG00000101596:ENST00000261598:exon26:c.A3423G:p.V1141V;	0.0110865501440339	0.194
18	2738541	A	T	18	2738543	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon26:c.A3423T:p.V1141V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.A3423T:p.V1141V;ENSG00000101596:ENST00000577880:exon15:c.A1836T:p.V612V;ENSG00000101596:ENST00000261598:exon26:c.A3423T:p.V1141V;	0.318370429390954	0.486
18	2738542	A	C	18	2738544	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon26:c.A3424C:p.R1142R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.A3424C:p.R1142R;ENSG00000101596:ENST00000577880:exon15:c.A1837C:p.R613R;ENSG00000101596:ENST00000261598:exon26:c.A3424C:p.R1142R;	0.997570127728347	0.914
18	2738542	A	G	18	2738544	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.A3424G:p.R1142G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.A3424G:p.R1142G;ENSG00000101596:ENST00000577880:exon15:c.A1837G:p.R613G;ENSG00000101596:ENST00000261598:exon26:c.A3424G:p.R1142G;	0.999921779625705	0.99
18	2738542	A	T	18	2738544	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon26:c.A3424T:p.R1142X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon26:c.A3424T:p.R1142X;ENSG00000101596:ENST00000577880:exon15:c.A1837T:p.R613X;ENSG00000101596:ENST00000261598:exon26:c.A3424T:p.R1142X;	0.999949928008978	1.0
18	2738543	G	A	18	2738545	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.G3425A:p.R1142K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.G3425A:p.R1142K;ENSG00000101596:ENST00000577880:exon15:c.G1838A:p.R613K;ENSG00000101596:ENST00000261598:exon26:c.G3425A:p.R1142K;	0.999981458442417	1.0
18	2738543	G	C	18	2738545	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.G3425C:p.R1142T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.G3425C:p.R1142T;ENSG00000101596:ENST00000577880:exon15:c.G1838C:p.R613T;ENSG00000101596:ENST00000261598:exon26:c.G3425C:p.R1142T;	0.999997608014363	1.0
18	2738543	G	T	18	2738545	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon26:c.G3425T:p.R1142I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon26:c.G3425T:p.R1142I;ENSG00000101596:ENST00000577880:exon15:c.G1838T:p.R613I;ENSG00000101596:ENST00000261598:exon26:c.G3425T:p.R1142I;	0.999992806544101	1.0
18	2738544	G	A	18	2738546	y	y	splicing	SMCHD1(NM_015295:exon26:c.3425+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3425+1G>A;ENST00000261598:exon26:c.3425+1G>A;ENST00000577880:exon15:c.1838+1G>A;ENST00000584897:exon11:c.1245+1G>A)	.	.	0.999973077603061	0.936
18	2738544	G	C	18	2738546	y	y	splicing	SMCHD1(NM_015295:exon26:c.3425+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3425+1G>C;ENST00000261598:exon26:c.3425+1G>C;ENST00000577880:exon15:c.1838+1G>C;ENST00000584897:exon11:c.1245+1G>C)	.	.	0.999930528371628	0.928
18	2738544	G	T	18	2738546	y	y	splicing	SMCHD1(NM_015295:exon26:c.3425+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3425+1G>T;ENST00000261598:exon26:c.3425+1G>T;ENST00000577880:exon15:c.1838+1G>T;ENST00000584897:exon11:c.1245+1G>T)	.	.	0.999973077603061	0.93
18	2738545	T	A	18	2738547	y	y	splicing	SMCHD1(NM_015295:exon26:c.3425+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3425+2T>A;ENST00000261598:exon26:c.3425+2T>A;ENST00000577880:exon15:c.1838+2T>A;ENST00000584897:exon11:c.1245+2T>A)	.	.	0.99993928974862	0.958
18	2738545	T	C	18	2738547	y	y	splicing	SMCHD1(NM_015295:exon26:c.3425+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3425+2T>C;ENST00000261598:exon26:c.3425+2T>C;ENST00000577880:exon15:c.1838+2T>C;ENST00000584897:exon11:c.1245+2T>C)	.	.	0.955441363166675	0.618
18	2738545	T	G	18	2738547	y	y	splicing	SMCHD1(NM_015295:exon26:c.3425+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon26:c.3425+2T>G;ENST00000261598:exon26:c.3425+2T>G;ENST00000577880:exon15:c.1838+2T>G;ENST00000584897:exon11:c.1245+2T>G)	.	.	0.99993928974862	0.956
18	2738546	T	A	18	2738548	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.92246745753903E-5	0.094
18	2738546	T	C	18	2738548	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.85162296791739E-4	0.116
18	2738546	T	G	18	2738548	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.37579002394383E-5	0.084
18	2738547	T	A	18	2738549	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.08999812432831E-4	0.11
18	2738547	T	C	18	2738549	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00253896247321602	0.12
18	2738547	T	G	18	2738549	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.0759735813413E-4	0.018
18	2738548	G	A	18	2738550	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999475918082251	0.818
18	2738548	G	C	18	2738550	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999967147261251	0.972
18	2738548	G	T	18	2738550	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999130457166588	0.83
18	2738549	T	A	18	2738551	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.190672604243981	0.55
18	2738549	T	C	18	2738551	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.502531243676341	0.574
18	2738549	T	G	18	2738551	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.532200692700803	0.49
18	2738550	G	A	18	2738552	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.10881214720564E-4	0.01
18	2738550	G	C	18	2738552	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.10881214720564E-4	0.01
18	2738550	G	T	18	2738552	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.42567622661706E-4	0.006
18	2738551	G	A	18	2738553	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.39123983253717E-5	0.0
18	2738551	G	C	18	2738553	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.39123983253717E-5	0.006
18	2738551	G	T	18	2738553	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.39123983253717E-5	0.004
18	2739418	A	C	18	2739420	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.47612914805743E-4	0.03
18	2739418	A	G	18	2739420	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.01530503421654E-4	0.08
18	2739418	A	T	18	2739420	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.87095599463782E-4	0.022
18	2739419	A	C	18	2739421	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.8907486355331E-5	0.014
18	2739419	A	G	18	2739421	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.98515558107911	0.938
18	2739419	A	T	18	2739421	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.40544277594658E-4	0.022
18	2739420	A	C	18	2739422	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.40863887211643E-5	0.002
18	2739420	A	G	18	2739422	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996703165680935	0.946
18	2739420	A	T	18	2739422	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.84959494236077E-5	0.014
18	2739421	C	A	18	2739423	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.44644790543145E-4	0.044
18	2739421	C	G	18	2739423	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998295223963781	0.948
18	2739421	C	T	18	2739423	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.7211695533748E-5	0.008
18	2739422	A	C	18	2739424	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.35728892680811E-5	0.006
18	2739422	A	G	18	2739424	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.8719184831045E-5	0.038
18	2739422	A	T	18	2739424	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.16020476998546E-4	0.054
18	2739423	A	C	18	2739425	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.25724896881445E-4	0.016
18	2739423	A	G	18	2739425	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99906444061025	0.98
18	2739423	A	T	18	2739425	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0342329911507E-4	0.038
18	2739424	T	A	18	2739426	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.755730671062299	0.722
18	2739424	T	C	18	2739426	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00110502009280997	0.02
18	2739424	T	G	18	2739426	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999275520124064	0.956
18	2739425	T	A	18	2739427	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.962241892894716	0.706
18	2739425	T	C	18	2739427	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0573038856426951	0.312
18	2739425	T	G	18	2739427	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.980882851409251	0.698
18	2739426	T	A	18	2739428	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00275267512873521	0.06
18	2739426	T	C	18	2739428	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.87627455357185E-4	0.048
18	2739426	T	G	18	2739428	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.36891912795336E-5	0.036
18	2739427	C	A	18	2739429	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.98797159662469	0.888
18	2739427	C	G	18	2739429	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998369157163396	0.828
18	2739427	C	T	18	2739429	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0135141198386493	0.176
18	2739428	A	C	18	2739430	y	y	splicing	SMCHD1(NM_015295:exon27:c.3426-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3426-2A>C;ENST00000261598:exon27:c.3426-2A>C;ENST00000577880:exon16:c.1839-2A>C;ENST00000584897:exon12:c.1246-2A>C)	.	.	0.99994515364607	0.876
18	2739428	A	G	18	2739430	y	y	splicing	SMCHD1(NM_015295:exon27:c.3426-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3426-2A>G;ENST00000261598:exon27:c.3426-2A>G;ENST00000577880:exon16:c.1839-2A>G;ENST00000584897:exon12:c.1246-2A>G)	.	.	0.99994515364607	0.876
18	2739428	A	T	18	2739430	y	y	splicing	SMCHD1(NM_015295:exon27:c.3426-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3426-2A>T;ENST00000261598:exon27:c.3426-2A>T;ENST00000577880:exon16:c.1839-2A>T;ENST00000584897:exon12:c.1246-2A>T)	.	.	0.99994515364607	0.862
18	2739429	G	A	18	2739431	y	y	splicing	SMCHD1(NM_015295:exon27:c.3426-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3426-1G>A;ENST00000261598:exon27:c.3426-1G>A;ENST00000577880:exon16:c.1839-1G>A;ENST00000584897:exon12:c.1246-1G>A)	.	.	0.99992595897628	0.846
18	2739429	G	C	18	2739431	y	y	splicing	SMCHD1(NM_015295:exon27:c.3426-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3426-1G>C;ENST00000261598:exon27:c.3426-1G>C;ENST00000577880:exon16:c.1839-1G>C;ENST00000584897:exon12:c.1246-1G>C)	.	.	0.999917081386799	0.846
18	2739429	G	T	18	2739431	y	y	splicing	SMCHD1(NM_015295:exon27:c.3426-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3426-1G>T;ENST00000261598:exon27:c.3426-1G>T;ENST00000577880:exon16:c.1839-1G>T;ENST00000584897:exon12:c.1246-1G>T)	.	.	0.999917081386799	0.84
18	2739430	A	C	18	2739432	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.A3426C:p.R1142S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.A3426C:p.R1142S;ENSG00000101596:ENST00000577880:exon16:c.A1839C:p.R613S;ENSG00000101596:ENST00000261598:exon27:c.A3426C:p.R1142S;	0.0187181453868949	0.2
18	2739430	A	G	18	2739432	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon27:c.A3426G:p.R1142R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.A3426G:p.R1142R;ENSG00000101596:ENST00000577880:exon16:c.A1839G:p.R613R;ENSG00000101596:ENST00000261598:exon27:c.A3426G:p.R1142R;	1.50857157201851E-4	0.028
18	2739430	A	T	18	2739432	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.A3426T:p.R1142S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.A3426T:p.R1142S;ENSG00000101596:ENST00000577880:exon16:c.A1839T:p.R613S;ENSG00000101596:ENST00000261598:exon27:c.A3426T:p.R1142S;	0.0283698697279686	0.158
18	2739431	C	A	18	2739433	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.C3427A:p.P1143T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.C3427A:p.P1143T;ENSG00000101596:ENST00000577880:exon16:c.C1840A:p.P614T;ENSG00000101596:ENST00000261598:exon27:c.C3427A:p.P1143T;	0.976467637927464	0.774
18	2739431	C	G	18	2739433	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.C3427G:p.P1143A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.C3427G:p.P1143A;ENSG00000101596:ENST00000577880:exon16:c.C1840G:p.P614A;ENSG00000101596:ENST00000261598:exon27:c.C3427G:p.P1143A;	0.982402070330998	0.86
18	2739431	C	T	18	2739433	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.C3427T:p.P1143S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.C3427T:p.P1143S;ENSG00000101596:ENST00000577880:exon16:c.C1840T:p.P614S;ENSG00000101596:ENST00000261598:exon27:c.C3427T:p.P1143S;	0.982715681768101	0.882
18	2739516	T	A	18	2739518	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.T3512A:p.V1171E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.T3512A:p.V1171E;ENSG00000101596:ENST00000577880:exon16:c.T1925A:p.V642E;ENSG00000101596:ENST00000261598:exon27:c.T3512A:p.V1171E;	0.573989310279713	0.676
18	2739516	T	C	18	2739518	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.T3512C:p.V1171A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.T3512C:p.V1171A;ENSG00000101596:ENST00000577880:exon16:c.T1925C:p.V642A;ENSG00000101596:ENST00000261598:exon27:c.T3512C:p.V1171A;	0.573989310279713	0.62
18	2739516	T	G	18	2739518	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.T3512G:p.V1171G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.T3512G:p.V1171G;ENSG00000101596:ENST00000577880:exon16:c.T1925G:p.V642G;ENSG00000101596:ENST00000261598:exon27:c.T3512G:p.V1171G;	0.661575708568066	0.69
18	2739517	A	C	18	2739519	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon27:c.A3513C:p.V1171V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.A3513C:p.V1171V;ENSG00000101596:ENST00000577880:exon16:c.A1926C:p.V642V;ENSG00000101596:ENST00000261598:exon27:c.A3513C:p.V1171V;	0.139428094115571	0.584
18	2739517	A	G	18	2739519	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon27:c.A3513G:p.V1171V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.A3513G:p.V1171V;ENSG00000101596:ENST00000577880:exon16:c.A1926G:p.V642V;ENSG00000101596:ENST00000261598:exon27:c.A3513G:p.V1171V;	0.977091651743844	0.708
18	2739517	A	T	18	2739519	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon27:c.A3513T:p.V1171V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.A3513T:p.V1171V;ENSG00000101596:ENST00000577880:exon16:c.A1926T:p.V642V;ENSG00000101596:ENST00000261598:exon27:c.A3513T:p.V1171V;	0.548444986683074	0.648
18	2739518	G	A	18	2739520	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.G3514A:p.V1172I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.G3514A:p.V1172I;ENSG00000101596:ENST00000577880:exon16:c.G1927A:p.V643I;ENSG00000101596:ENST00000261598:exon27:c.G3514A:p.V1172I;	0.999921631194373	0.984
18	2739518	G	C	18	2739520	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.G3514C:p.V1172L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.G3514C:p.V1172L;ENSG00000101596:ENST00000577880:exon16:c.G1927C:p.V643L;ENSG00000101596:ENST00000261598:exon27:c.G3514C:p.V1172L;	0.999993902380016	0.982
18	2739518	G	T	18	2739520	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon27:c.G3514T:p.V1172F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon27:c.G3514T:p.V1172F;ENSG00000101596:ENST00000577880:exon16:c.G1927T:p.V643F;ENSG00000101596:ENST00000261598:exon27:c.G3514T:p.V1172F;	0.999954063374886	0.93
18	2739519	G	A	18	2739521	y	y	splicing	SMCHD1(NM_015295:exon27:c.3514+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3514+1G>A;ENST00000261598:exon27:c.3514+1G>A;ENST00000577880:exon16:c.1927+1G>A;ENST00000584897:exon12:c.1334+1G>A)	.	.	0.999985532734767	0.936
18	2739519	G	C	18	2739521	y	y	splicing	SMCHD1(NM_015295:exon27:c.3514+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3514+1G>C;ENST00000261598:exon27:c.3514+1G>C;ENST00000577880:exon16:c.1927+1G>C;ENST00000584897:exon12:c.1334+1G>C)	.	.	0.999985532734767	0.936
18	2739519	G	T	18	2739521	y	y	splicing	SMCHD1(NM_015295:exon27:c.3514+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3514+1G>T;ENST00000261598:exon27:c.3514+1G>T;ENST00000577880:exon16:c.1927+1G>T;ENST00000584897:exon12:c.1334+1G>T)	.	.	0.999985532734767	0.936
18	2739520	T	A	18	2739522	y	y	splicing	SMCHD1(NM_015295:exon27:c.3514+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3514+2T>A;ENST00000261598:exon27:c.3514+2T>A;ENST00000577880:exon16:c.1927+2T>A;ENST00000584897:exon12:c.1334+2T>A)	.	.	0.999988247793601	0.926
18	2739520	T	C	18	2739522	y	y	splicing	SMCHD1(NM_015295:exon27:c.3514+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3514+2T>C;ENST00000261598:exon27:c.3514+2T>C;ENST00000577880:exon16:c.1927+2T>C;ENST00000584897:exon12:c.1334+2T>C)	.	.	0.98918007292081	0.638
18	2739520	T	G	18	2739522	y	y	splicing	SMCHD1(NM_015295:exon27:c.3514+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon27:c.3514+2T>G;ENST00000261598:exon27:c.3514+2T>G;ENST00000577880:exon16:c.1927+2T>G;ENST00000584897:exon12:c.1334+2T>G)	.	.	0.999988247793601	0.926
18	2739521	T	A	18	2739523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.87013615878732E-4	0.026
18	2739521	T	C	18	2739523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.82744473669264E-5	0.052
18	2739521	T	G	18	2739523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.90224486094408E-4	0.044
18	2739522	A	C	18	2739524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.797384293788978	0.602
18	2739522	A	G	18	2739524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.560947523519348	0.452
18	2739522	A	T	18	2739524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.857279858231915	0.62
18	2739523	G	A	18	2739525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999929947394341	0.932
18	2739523	G	C	18	2739525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999964363717902	0.964
18	2739523	G	T	18	2739525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999928431487992	0.942
18	2739524	T	A	18	2739526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997771690521875	0.904
18	2739524	T	C	18	2739526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.994895892141236	0.912
18	2739524	T	G	18	2739526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996666359230463	0.868
18	2739525	A	C	18	2739527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.11087403071293E-5	0.01
18	2739525	A	G	18	2739527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.17510838974764E-5	0.052
18	2739525	A	T	18	2739527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.43034472545793E-4	0.088
18	2739526	T	A	18	2739528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0890036869499434	0.444
18	2739526	T	C	18	2739528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.108888848199512	0.316
18	2739526	T	G	18	2739528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0890036869499434	0.312
18	2740689	C	A	18	2740691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00171209716699923	0.038
18	2740689	C	G	18	2740691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00175187183727137	0.06
18	2740689	C	T	18	2740691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.36077018770431E-5	0.0
18	2740690	C	A	18	2740692	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0010850409185109	0.124
18	2740690	C	G	18	2740692	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.49002910089977E-4	0.158
18	2740690	C	T	18	2740692	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.37923111100512E-5	0.0
18	2740691	C	A	18	2740693	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.40741064111835E-4	0.022
18	2740691	C	G	18	2740693	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.72260057272809E-4	0.034
18	2740691	C	T	18	2740693	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.04737572979891E-5	0.0
18	2740692	C	A	18	2740694	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.56733233311304E-4	0.024
18	2740692	C	G	18	2740694	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.00449582741867E-4	0.032
18	2740692	C	T	18	2740694	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.77419411662811E-5	0.006
18	2740693	T	A	18	2740695	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0120704038777285	0.17
18	2740693	T	C	18	2740695	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.10330437064732E-4	0.022
18	2740693	T	G	18	2740695	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00755093208601004	0.138
18	2740694	T	A	18	2740696	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0218851277868254	0.164
18	2740694	T	C	18	2740696	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00156330247911518	0.066
18	2740694	T	G	18	2740696	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0216951375380756	0.152
18	2740695	T	A	18	2740697	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0071552506815297	0.196
18	2740695	T	C	18	2740697	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.03812249303274E-4	0.128
18	2740695	T	G	18	2740697	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00260664421509331	0.128
18	2740696	T	A	18	2740698	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.885088864528907	0.642
18	2740696	T	C	18	2740698	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00606787390151084	0.254
18	2740696	T	G	18	2740698	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.942742361687367	0.636
18	2740697	T	A	18	2740699	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68689617116179E-5	0.002
18	2740697	T	C	18	2740699	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.75125586279641E-5	0.02
18	2740697	T	G	18	2740699	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.7726869633629E-4	0.054
18	2740698	T	A	18	2740700	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.23719058524242E-4	0.228
18	2740698	T	C	18	2740700	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.55891497824686E-5	0.0
18	2740698	T	G	18	2740700	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.869202820755929	0.718
18	2740699	A	C	18	2740701	y	y	splicing	SMCHD1(NM_015295:exon28:c.3515-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3515-2A>C;ENST00000261598:exon28:c.3515-2A>C;ENST00000577880:exon17:c.1928-2A>C;ENST00000584897:exon13:c.1335-2A>C)	.	.	0.999955107838025	0.926
18	2740699	A	G	18	2740701	y	y	splicing	SMCHD1(NM_015295:exon28:c.3515-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3515-2A>G;ENST00000261598:exon28:c.3515-2A>G;ENST00000577880:exon17:c.1928-2A>G;ENST00000584897:exon13:c.1335-2A>G)	.	.	0.999955107838025	0.926
18	2740699	A	T	18	2740701	y	y	splicing	SMCHD1(NM_015295:exon28:c.3515-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3515-2A>T;ENST00000261598:exon28:c.3515-2A>T;ENST00000577880:exon17:c.1928-2A>T;ENST00000584897:exon13:c.1335-2A>T)	.	.	0.999955107838025	0.922
18	2740700	G	A	18	2740702	y	y	splicing	SMCHD1(NM_015295:exon28:c.3515-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3515-1G>A;ENST00000261598:exon28:c.3515-1G>A;ENST00000577880:exon17:c.1928-1G>A;ENST00000584897:exon13:c.1335-1G>A)	.	.	0.999989483462543	0.934
18	2740700	G	C	18	2740702	y	y	splicing	SMCHD1(NM_015295:exon28:c.3515-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3515-1G>C;ENST00000261598:exon28:c.3515-1G>C;ENST00000577880:exon17:c.1928-1G>C;ENST00000584897:exon13:c.1335-1G>C)	.	.	0.999989483462543	0.934
18	2740700	G	T	18	2740702	y	y	splicing	SMCHD1(NM_015295:exon28:c.3515-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3515-1G>T;ENST00000261598:exon28:c.3515-1G>T;ENST00000577880:exon17:c.1928-1G>T;ENST00000584897:exon13:c.1335-1G>T)	.	.	0.999989483462543	0.924
18	2740701	T	A	18	2740703	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.T3515A:p.V1172D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.T3515A:p.V1172D;ENSG00000101596:ENST00000577880:exon17:c.T1928A:p.V643D;ENSG00000101596:ENST00000261598:exon28:c.T3515A:p.V1172D;	8.95031299502233E-5	0.0
18	2740701	T	C	18	2740703	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.T3515C:p.V1172A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.T3515C:p.V1172A;ENSG00000101596:ENST00000577880:exon17:c.T1928C:p.V643A;ENSG00000101596:ENST00000261598:exon28:c.T3515C:p.V1172A;	4.52068198670173E-5	0.016
18	2740701	T	G	18	2740703	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.T3515G:p.V1172G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.T3515G:p.V1172G;ENSG00000101596:ENST00000577880:exon17:c.T1928G:p.V643G;ENSG00000101596:ENST00000261598:exon28:c.T3515G:p.V1172G;	7.96525985205783E-4	0.114
18	2740702	T	A	18	2740704	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon28:c.T3516A:p.V1172V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.T3516A:p.V1172V;ENSG00000101596:ENST00000577880:exon17:c.T1929A:p.V643V;ENSG00000101596:ENST00000261598:exon28:c.T3516A:p.V1172V;	0.0048312174592755	0.172
18	2740702	T	C	18	2740704	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon28:c.T3516C:p.V1172V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.T3516C:p.V1172V;ENSG00000101596:ENST00000577880:exon17:c.T1929C:p.V643V;ENSG00000101596:ENST00000261598:exon28:c.T3516C:p.V1172V;	0.00816762813152736	0.142
18	2740702	T	G	18	2740704	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon28:c.T3516G:p.V1172V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.T3516G:p.V1172V;ENSG00000101596:ENST00000577880:exon17:c.T1929G:p.V643V;ENSG00000101596:ENST00000261598:exon28:c.T3516G:p.V1172V;	0.00224127379832314	0.106
18	2740817	C	A	18	2740819	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.C3631A:p.Q1211K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.C3631A:p.Q1211K;ENSG00000101596:ENST00000577880:exon17:c.C2044A:p.Q682K;ENSG00000101596:ENST00000261598:exon28:c.C3631A:p.Q1211K;	0.00989259153658516	0.152
18	2740817	C	G	18	2740819	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.C3631G:p.Q1211E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.C3631G:p.Q1211E;ENSG00000101596:ENST00000577880:exon17:c.C2044G:p.Q682E;ENSG00000101596:ENST00000261598:exon28:c.C3631G:p.Q1211E;	9.91190764440817E-4	0.076
18	2740817	C	T	18	2740819	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon28:c.C3631T:p.Q1211X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon28:c.C3631T:p.Q1211X;ENSG00000101596:ENST00000577880:exon17:c.C2044T:p.Q682X;ENSG00000101596:ENST00000261598:exon28:c.C3631T:p.Q1211X;	0.905873401818555	0.79
18	2740818	A	C	18	2740820	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.A3632C:p.Q1211P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.A3632C:p.Q1211P;ENSG00000101596:ENST00000577880:exon17:c.A2045C:p.Q682P;ENSG00000101596:ENST00000261598:exon28:c.A3632C:p.Q1211P;	0.99842949803942	0.964
18	2740818	A	G	18	2740820	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.A3632G:p.Q1211R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.A3632G:p.Q1211R;ENSG00000101596:ENST00000577880:exon17:c.A2045G:p.Q682R;ENSG00000101596:ENST00000261598:exon28:c.A3632G:p.Q1211R;	0.998413518677731	0.98
18	2740818	A	T	18	2740820	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.A3632T:p.Q1211L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.A3632T:p.Q1211L;ENSG00000101596:ENST00000577880:exon17:c.A2045T:p.Q682L;ENSG00000101596:ENST00000261598:exon28:c.A3632T:p.Q1211L;	0.997658753763868	0.978
18	2740819	G	A	18	2740821	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon28:c.G3633A:p.Q1211Q;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.G3633A:p.Q1211Q;ENSG00000101596:ENST00000577880:exon17:c.G2046A:p.Q682Q;ENSG00000101596:ENST00000261598:exon28:c.G3633A:p.Q1211Q;	0.999795091880157	0.986
18	2740819	G	C	18	2740821	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.G3633C:p.Q1211H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.G3633C:p.Q1211H;ENSG00000101596:ENST00000577880:exon17:c.G2046C:p.Q682H;ENSG00000101596:ENST00000261598:exon28:c.G3633C:p.Q1211H;	0.99998367513052	0.994
18	2740819	G	T	18	2740821	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon28:c.G3633T:p.Q1211H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon28:c.G3633T:p.Q1211H;ENSG00000101596:ENST00000577880:exon17:c.G2046T:p.Q682H;ENSG00000101596:ENST00000261598:exon28:c.G3633T:p.Q1211H;	0.999875169879543	0.994
18	2740820	G	A	18	2740822	y	y	splicing	SMCHD1(NM_015295:exon28:c.3633+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3633+1G>A;ENST00000261598:exon28:c.3633+1G>A;ENST00000577880:exon17:c.2046+1G>A;ENST00000584897:exon13:c.1453+1G>A)	.	.	0.99993314117114	0.93
18	2740820	G	C	18	2740822	y	y	splicing	SMCHD1(NM_015295:exon28:c.3633+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3633+1G>C;ENST00000261598:exon28:c.3633+1G>C;ENST00000577880:exon17:c.2046+1G>C;ENST00000584897:exon13:c.1453+1G>C)	.	.	0.99993314117114	0.932
18	2740820	G	T	18	2740822	y	y	splicing	SMCHD1(NM_015295:exon28:c.3633+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3633+1G>T;ENST00000261598:exon28:c.3633+1G>T;ENST00000577880:exon17:c.2046+1G>T;ENST00000584897:exon13:c.1453+1G>T)	.	.	0.99993314117114	0.924
18	2740821	T	A	18	2740823	y	y	splicing	SMCHD1(NM_015295:exon28:c.3633+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3633+2T>A;ENST00000261598:exon28:c.3633+2T>A;ENST00000577880:exon17:c.2046+2T>A;ENST00000584897:exon13:c.1453+2T>A)	.	.	0.999946188727699	0.94
18	2740821	T	C	18	2740823	y	y	splicing	SMCHD1(NM_015295:exon28:c.3633+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3633+2T>C;ENST00000261598:exon28:c.3633+2T>C;ENST00000577880:exon17:c.2046+2T>C;ENST00000584897:exon13:c.1453+2T>C)	.	.	0.95755789858141	0.608
18	2740821	T	G	18	2740823	y	y	splicing	SMCHD1(NM_015295:exon28:c.3633+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon28:c.3633+2T>G;ENST00000261598:exon28:c.3633+2T>G;ENST00000577880:exon17:c.2046+2T>G;ENST00000584897:exon13:c.1453+2T>G)	.	.	0.999946188727699	0.934
18	2740822	A	C	18	2740824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997983639173962	0.726
18	2740822	A	G	18	2740824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.92717811107472	0.596
18	2740822	A	T	18	2740824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99519429375887	0.758
18	2740823	T	A	18	2740825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.02839048974159E-5	0.068
18	2740823	T	C	18	2740825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.32482606766302E-5	0.032
18	2740823	T	G	18	2740825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68264385215759E-5	0.022
18	2740824	G	A	18	2740826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.250387012703164	0.398
18	2740824	G	C	18	2740826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.714356081508281	0.47
18	2740824	G	T	18	2740826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.746780759272314	0.44
18	2740825	G	A	18	2740827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.94042872391218E-5	0.004
18	2740825	G	C	18	2740827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.4790319106198E-5	0.004
18	2740825	G	T	18	2740827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.08968436393553E-5	0.004
18	2740826	C	A	18	2740828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.26501254653793E-5	0.0
18	2740826	C	G	18	2740828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.98629200328494E-5	0.0
18	2740826	C	T	18	2740828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.97643956229982E-4	0.0
18	2740827	T	A	18	2740829	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.71870842480049E-5	0.0
18	2740827	T	C	18	2740829	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.25948333721311E-5	0.0
18	2740827	T	G	18	2740829	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.71870842480049E-5	0.0
18	2743747	T	A	18	2743749	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.149283594026779	0.358
18	2743747	T	C	18	2743749	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00377221701010128	0.056
18	2743747	T	G	18	2743749	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.05377309683168	0.294
18	2743748	T	A	18	2743750	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0981084305648845	0.428
18	2743748	T	C	18	2743750	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0166177226261451	0.092
18	2743748	T	G	18	2743750	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0290290924129535	0.292
18	2743749	T	A	18	2743751	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0355275343337953	0.142
18	2743749	T	C	18	2743751	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.97839412788148E-4	0.01
18	2743749	T	G	18	2743751	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00567302957037244	0.138
18	2743750	C	A	18	2743752	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00121842063508564	0.018
18	2743750	C	G	18	2743752	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.7979452964735E-4	0.01
18	2743750	C	T	18	2743752	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.95792866086172E-5	0.0
18	2743751	C	A	18	2743753	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.72167102749731E-4	0.06
18	2743751	C	G	18	2743753	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.08514947290556E-4	0.08
18	2743751	C	T	18	2743753	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.22413124387803E-5	0.0
18	2743752	T	A	18	2743754	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0118846950462098	0.18
18	2743752	T	C	18	2743754	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.19346919767106E-5	0.002
18	2743752	T	G	18	2743754	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0119127183321364	0.12
18	2743753	C	A	18	2743755	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0244271113474277	0.322
18	2743753	C	G	18	2743755	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0713865860602961	0.348
18	2743753	C	T	18	2743755	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.5896123807016E-4	0.026
18	2743754	A	C	18	2743756	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.07817632557855E-4	0.006
18	2743754	A	G	18	2743756	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.05552332155867E-4	0.028
18	2743754	A	T	18	2743756	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.9286727277337E-4	0.018
18	2743755	C	A	18	2743757	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.82431380648047E-5	0.004
18	2743755	C	G	18	2743757	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.947921538902665	0.76
18	2743755	C	T	18	2743757	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.20142193235102E-5	0.006
18	2743756	T	A	18	2743758	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.154257373652586	0.402
18	2743756	T	C	18	2743758	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.45392097707404E-4	0.004
18	2743756	T	G	18	2743758	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997905309240974	0.672
18	2743757	A	C	18	2743759	y	y	splicing	SMCHD1(NM_015295:exon29:c.3634-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3634-2A>C;ENST00000261598:exon29:c.3634-2A>C;ENST00000577880:exon18:c.2047-2A>C;ENST00000584897:exon14:c.1454-2A>C)	.	.	0.999989917668626	0.926
18	2743757	A	G	18	2743759	y	y	splicing	SMCHD1(NM_015295:exon29:c.3634-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3634-2A>G;ENST00000261598:exon29:c.3634-2A>G;ENST00000577880:exon18:c.2047-2A>G;ENST00000584897:exon14:c.1454-2A>G)	.	.	0.999989917668626	0.926
18	2743757	A	T	18	2743759	y	y	splicing	SMCHD1(NM_015295:exon29:c.3634-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3634-2A>T;ENST00000261598:exon29:c.3634-2A>T;ENST00000577880:exon18:c.2047-2A>T;ENST00000584897:exon14:c.1454-2A>T)	.	.	0.999989917668626	0.876
18	2743758	G	A	18	2743760	y	y	splicing	SMCHD1(NM_015295:exon29:c.3634-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3634-1G>A;ENST00000261598:exon29:c.3634-1G>A;ENST00000577880:exon18:c.2047-1G>A;ENST00000584897:exon14:c.1454-1G>A)	.	.	0.999986675681007	0.932
18	2743758	G	C	18	2743760	y	y	splicing	SMCHD1(NM_015295:exon29:c.3634-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3634-1G>C;ENST00000261598:exon29:c.3634-1G>C;ENST00000577880:exon18:c.2047-1G>C;ENST00000584897:exon14:c.1454-1G>C)	.	.	0.999986675681007	0.932
18	2743758	G	T	18	2743760	y	y	splicing	SMCHD1(NM_015295:exon29:c.3634-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3634-1G>T;ENST00000261598:exon29:c.3634-1G>T;ENST00000577880:exon18:c.2047-1G>T;ENST00000584897:exon14:c.1454-1G>T)	.	.	0.999986675681007	0.932
18	2743759	G	A	18	2743761	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.G3634A:p.E1212K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.G3634A:p.E1212K;ENSG00000101596:ENST00000577880:exon18:c.G2047A:p.E683K;ENSG00000101596:ENST00000261598:exon29:c.G3634A:p.E1212K;	0.277089496571831	0.432
18	2743759	G	C	18	2743761	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.G3634C:p.E1212Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.G3634C:p.E1212Q;ENSG00000101596:ENST00000577880:exon18:c.G2047C:p.E683Q;ENSG00000101596:ENST00000261598:exon29:c.G3634C:p.E1212Q;	0.993960828853621	0.836
18	2743759	G	T	18	2743761	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon29:c.G3634T:p.E1212X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon29:c.G3634T:p.E1212X;ENSG00000101596:ENST00000577880:exon18:c.G2047T:p.E683X;ENSG00000101596:ENST00000261598:exon29:c.G3634T:p.E1212X;	0.999514394133896	0.964
18	2743760	A	C	18	2743762	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.A3635C:p.E1212A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.A3635C:p.E1212A;ENSG00000101596:ENST00000577880:exon18:c.A2048C:p.E683A;ENSG00000101596:ENST00000261598:exon29:c.A3635C:p.E1212A;	0.00899970088995693	0.066
18	2743760	A	G	18	2743762	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.A3635G:p.E1212G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.A3635G:p.E1212G;ENSG00000101596:ENST00000577880:exon18:c.A2048G:p.E683G;ENSG00000101596:ENST00000261598:exon29:c.A3635G:p.E1212G;	0.00270008394654919	0.024
18	2743760	A	T	18	2743762	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.A3635T:p.E1212V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.A3635T:p.E1212V;ENSG00000101596:ENST00000577880:exon18:c.A2048T:p.E683V;ENSG00000101596:ENST00000261598:exon29:c.A3635T:p.E1212V;	0.00147058469882109	0.006
18	2743924	G	A	18	2743926	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.G3799A:p.E1267K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.G3799A:p.E1267K;ENSG00000101596:ENST00000577880:exon18:c.G2212A:p.E738K;ENSG00000101596:ENST00000261598:exon29:c.G3799A:p.E1267K;	0.0051690559746933	0.084
18	2743924	G	C	18	2743926	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.G3799C:p.E1267Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.G3799C:p.E1267Q;ENSG00000101596:ENST00000577880:exon18:c.G2212C:p.E738Q;ENSG00000101596:ENST00000261598:exon29:c.G3799C:p.E1267Q;	0.00220524223457637	0.01
18	2743924	G	T	18	2743926	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon29:c.G3799T:p.E1267X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon29:c.G3799T:p.E1267X;ENSG00000101596:ENST00000577880:exon18:c.G2212T:p.E738X;ENSG00000101596:ENST00000261598:exon29:c.G3799T:p.E1267X;	0.983052157546135	0.838
18	2743925	A	C	18	2743927	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.A3800C:p.E1267A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.A3800C:p.E1267A;ENSG00000101596:ENST00000577880:exon18:c.A2213C:p.E738A;ENSG00000101596:ENST00000261598:exon29:c.A3800C:p.E1267A;	0.909526125912091	0.628
18	2743925	A	G	18	2743927	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.A3800G:p.E1267G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.A3800G:p.E1267G;ENSG00000101596:ENST00000577880:exon18:c.A2213G:p.E738G;ENSG00000101596:ENST00000261598:exon29:c.A3800G:p.E1267G;	0.900021804578897	0.58
18	2743925	A	T	18	2743927	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.A3800T:p.E1267V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.A3800T:p.E1267V;ENSG00000101596:ENST00000577880:exon18:c.A2213T:p.E738V;ENSG00000101596:ENST00000261598:exon29:c.A3800T:p.E1267V;	0.98267876815708	0.576
18	2743926	G	A	18	2743928	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon29:c.G3801A:p.E1267E;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.G3801A:p.E1267E;ENSG00000101596:ENST00000577880:exon18:c.G2214A:p.E738E;ENSG00000101596:ENST00000261598:exon29:c.G3801A:p.E1267E;	0.0542928603900748	0.29
18	2743926	G	C	18	2743928	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.G3801C:p.E1267D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.G3801C:p.E1267D;ENSG00000101596:ENST00000577880:exon18:c.G2214C:p.E738D;ENSG00000101596:ENST00000261598:exon29:c.G3801C:p.E1267D;	0.46271096339974	0.564
18	2743926	G	T	18	2743928	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon29:c.G3801T:p.E1267D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon29:c.G3801T:p.E1267D;ENSG00000101596:ENST00000577880:exon18:c.G2214T:p.E738D;ENSG00000101596:ENST00000261598:exon29:c.G3801T:p.E1267D;	0.196438048443872	0.45
18	2743927	G	A	18	2743929	y	y	splicing	SMCHD1(NM_015295:exon29:c.3801+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3801+1G>A;ENST00000261598:exon29:c.3801+1G>A;ENST00000577880:exon18:c.2214+1G>A;ENST00000584897:exon14:c.1621+1G>A)	.	.	0.999968430223941	0.878
18	2743927	G	C	18	2743929	y	y	splicing	SMCHD1(NM_015295:exon29:c.3801+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3801+1G>C;ENST00000261598:exon29:c.3801+1G>C;ENST00000577880:exon18:c.2214+1G>C;ENST00000584897:exon14:c.1621+1G>C)	.	.	0.999965143305126	0.856
18	2743927	G	T	18	2743929	y	y	splicing	SMCHD1(NM_015295:exon29:c.3801+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3801+1G>T;ENST00000261598:exon29:c.3801+1G>T;ENST00000577880:exon18:c.2214+1G>T;ENST00000584897:exon14:c.1621+1G>T)	.	.	0.999965143305126	0.87
18	2743928	T	A	18	2743930	y	y	splicing	SMCHD1(NM_015295:exon29:c.3801+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3801+2T>A;ENST00000261598:exon29:c.3801+2T>A;ENST00000577880:exon18:c.2214+2T>A;ENST00000584897:exon14:c.1621+2T>A)	.	.	0.999969255906173	0.866
18	2743928	T	C	18	2743930	y	y	splicing	SMCHD1(NM_015295:exon29:c.3801+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3801+2T>C;ENST00000261598:exon29:c.3801+2T>C;ENST00000577880:exon18:c.2214+2T>C;ENST00000584897:exon14:c.1621+2T>C)	.	.	0.942719766198435	0.572
18	2743928	T	G	18	2743930	y	y	splicing	SMCHD1(NM_015295:exon29:c.3801+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon29:c.3801+2T>G;ENST00000261598:exon29:c.3801+2T>G;ENST00000577880:exon18:c.2214+2T>G;ENST00000584897:exon14:c.1621+2T>G)	.	.	0.999969255906173	0.844
18	2743929	A	C	18	2743931	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.617134479088027	0.53
18	2743929	A	G	18	2743931	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00446908611603407	0.126
18	2743929	A	T	18	2743931	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.640892037290493	0.542
18	2743930	A	C	18	2743932	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0225683682913614	0.288
18	2743930	A	G	18	2743932	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0715806671269538	0.394
18	2743930	A	T	18	2743932	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0310220159637611	0.238
18	2743931	G	A	18	2743933	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.467997979699927	0.456
18	2743931	G	C	18	2743933	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.654006665538967	0.43
18	2743931	G	T	18	2743933	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.487519393223804	0.448
18	2743932	T	A	18	2743934	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00284384626595107	0.194
18	2743932	T	C	18	2743934	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00218842083636361	0.196
18	2743932	T	G	18	2743934	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.1884392826276E-4	0.096
18	2743933	C	A	18	2743935	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.48038318268713E-5	0.006
18	2743933	C	G	18	2743935	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.1902582256924E-5	0.0
18	2743933	C	T	18	2743935	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.07878999317422E-4	0.002
18	2743934	A	C	18	2743936	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.7586829694842E-5	0.002
18	2743934	A	G	18	2743936	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.36340088948343E-5	0.002
18	2743934	A	T	18	2743936	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.7586829694842E-5	0.0
18	2747508	T	A	18	2747510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0134925059015389	0.148
18	2747508	T	C	18	2747510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.3584261825713E-4	0.016
18	2747508	T	G	18	2747510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0171763683684223	0.128
18	2747509	A	C	18	2747511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.23984900794252E-5	0.0
18	2747509	A	G	18	2747511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.40700754914914E-5	0.002
18	2747509	A	T	18	2747511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.86157947203879E-5	0.02
18	2747510	T	A	18	2747512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0134518281240432	0.188
18	2747510	T	C	18	2747512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.19279590661442E-4	0.018
18	2747510	T	G	18	2747512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998157791922942	0.964
18	2747511	T	A	18	2747513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0114884112084272	0.1
18	2747511	T	C	18	2747513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.16723774217178E-4	0.034
18	2747511	T	G	18	2747513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0154812670320909	0.12
18	2747512	C	A	18	2747514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.76099228389563E-4	0.042
18	2747512	C	G	18	2747514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00217907277856783	0.072
18	2747512	C	T	18	2747514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.11285167803949E-5	0.0
18	2747513	T	A	18	2747515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0015956884127348	0.052
18	2747513	T	C	18	2747515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.27599088789826E-4	0.002
18	2747513	T	G	18	2747515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00219923415613931	0.062
18	2747514	T	A	18	2747516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.044874549196011	0.182
18	2747514	T	C	18	2747516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00127808451621662	0.058
18	2747514	T	G	18	2747516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0363229339832276	0.208
18	2747515	T	A	18	2747517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.205121253155695	0.422
18	2747515	T	C	18	2747517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0563752549147113	0.14
18	2747515	T	G	18	2747517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.604719201392022	0.466
18	2747516	T	A	18	2747518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.68728722050103E-4	0.0
18	2747516	T	C	18	2747518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.48218503717157E-4	0.002
18	2747516	T	G	18	2747518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.68728722050103E-4	0.002
18	2747517	C	A	18	2747519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.493027121411378	0.572
18	2747517	C	G	18	2747519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99771852235183	0.93
18	2747517	C	T	18	2747519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.8149621366091E-4	0.0
18	2747518	A	C	18	2747520	y	y	splicing	SMCHD1(NM_015295:exon30:c.3802-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3802-2A>C;ENST00000261598:exon30:c.3802-2A>C;ENST00000577880:exon19:c.2215-2A>C;ENST00000584897:exon15:c.1622-2A>C)	.	.	0.999971317418422	0.888
18	2747518	A	G	18	2747520	y	y	splicing	SMCHD1(NM_015295:exon30:c.3802-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3802-2A>G;ENST00000261598:exon30:c.3802-2A>G;ENST00000577880:exon19:c.2215-2A>G;ENST00000584897:exon15:c.1622-2A>G)	.	.	0.999971317418422	0.888
18	2747518	A	T	18	2747520	y	y	splicing	SMCHD1(NM_015295:exon30:c.3802-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3802-2A>T;ENST00000261598:exon30:c.3802-2A>T;ENST00000577880:exon19:c.2215-2A>T;ENST00000584897:exon15:c.1622-2A>T)	.	.	0.999971317418422	0.892
18	2747519	G	A	18	2747521	y	y	splicing	SMCHD1(NM_015295:exon30:c.3802-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3802-1G>A;ENST00000261598:exon30:c.3802-1G>A;ENST00000577880:exon19:c.2215-1G>A;ENST00000584897:exon15:c.1622-1G>A)	.	.	0.999958812450268	0.92
18	2747519	G	C	18	2747521	y	y	splicing	SMCHD1(NM_015295:exon30:c.3802-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3802-1G>C;ENST00000261598:exon30:c.3802-1G>C;ENST00000577880:exon19:c.2215-1G>C;ENST00000584897:exon15:c.1622-1G>C)	.	.	0.99996748057446	0.906
18	2747519	G	T	18	2747521	y	y	splicing	SMCHD1(NM_015295:exon30:c.3802-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3802-1G>T;ENST00000261598:exon30:c.3802-1G>T;ENST00000577880:exon19:c.2215-1G>T;ENST00000584897:exon15:c.1622-1G>T)	.	.	0.99996748057446	0.904
18	2747520	T	A	18	2747522	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.T3802A:p.S1268T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.T3802A:p.S1268T;ENSG00000101596:ENST00000577880:exon19:c.T2215A:p.S739T;ENSG00000101596:ENST00000261598:exon30:c.T3802A:p.S1268T;	3.02124983923177E-4	0.018
18	2747520	T	C	18	2747522	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.T3802C:p.S1268P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.T3802C:p.S1268P;ENSG00000101596:ENST00000577880:exon19:c.T2215C:p.S739P;ENSG00000101596:ENST00000261598:exon30:c.T3802C:p.S1268P;	7.84912816565398E-5	0.02
18	2747520	T	G	18	2747522	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.T3802G:p.S1268A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.T3802G:p.S1268A;ENSG00000101596:ENST00000577880:exon19:c.T2215G:p.S739A;ENSG00000101596:ENST00000261598:exon30:c.T3802G:p.S1268A;	2.26030549011804E-4	0.166
18	2747521	C	A	18	2747523	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.C3803A:p.S1268Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.C3803A:p.S1268Y;ENSG00000101596:ENST00000577880:exon19:c.C2216A:p.S739Y;ENSG00000101596:ENST00000261598:exon30:c.C3803A:p.S1268Y;	9.98576138908277E-5	0.002
18	2747521	C	G	18	2747523	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.C3803G:p.S1268C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.C3803G:p.S1268C;ENSG00000101596:ENST00000577880:exon19:c.C2216G:p.S739C;ENSG00000101596:ENST00000261598:exon30:c.C3803G:p.S1268C;	2.27453851777775E-6	0.006
18	2747521	C	T	18	2747523	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.C3803T:p.S1268F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.C3803T:p.S1268F;ENSG00000101596:ENST00000577880:exon19:c.C2216T:p.S739F;ENSG00000101596:ENST00000261598:exon30:c.C3803T:p.S1268F;	3.52651329878576E-6	0.0
18	2747643	A	C	18	2747645	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.A3925C:p.K1309Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.A3925C:p.K1309Q;ENSG00000101596:ENST00000577880:exon19:c.A2338C:p.K780Q;ENSG00000101596:ENST00000261598:exon30:c.A3925C:p.K1309Q;	0.00434245250527508	0.028
18	2747643	A	G	18	2747645	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.A3925G:p.K1309E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.A3925G:p.K1309E;ENSG00000101596:ENST00000577880:exon19:c.A2338G:p.K780E;ENSG00000101596:ENST00000261598:exon30:c.A3925G:p.K1309E;	0.00617300093871812	0.062
18	2747643	A	T	18	2747645	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon30:c.A3925T:p.K1309X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon30:c.A3925T:p.K1309X;ENSG00000101596:ENST00000577880:exon19:c.A2338T:p.K780X;ENSG00000101596:ENST00000261598:exon30:c.A3925T:p.K1309X;	0.939897218062484	0.652
18	2747644	A	C	18	2747646	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.A3926C:p.K1309T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.A3926C:p.K1309T;ENSG00000101596:ENST00000577880:exon19:c.A2339C:p.K780T;ENSG00000101596:ENST00000261598:exon30:c.A3926C:p.K1309T;	0.225369799380753	0.462
18	2747644	A	G	18	2747646	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.A3926G:p.K1309R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.A3926G:p.K1309R;ENSG00000101596:ENST00000577880:exon19:c.A2339G:p.K780R;ENSG00000101596:ENST00000261598:exon30:c.A3926G:p.K1309R;	0.158706566305604	0.216
18	2747644	A	T	18	2747646	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.A3926T:p.K1309M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.A3926T:p.K1309M;ENSG00000101596:ENST00000577880:exon19:c.A2339T:p.K780M;ENSG00000101596:ENST00000261598:exon30:c.A3926T:p.K1309M;	0.370963186919596	0.486
18	2747645	G	A	18	2747647	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon30:c.G3927A:p.K1309K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.G3927A:p.K1309K;ENSG00000101596:ENST00000577880:exon19:c.G2340A:p.K780K;ENSG00000101596:ENST00000261598:exon30:c.G3927A:p.K1309K;	0.37929304288184	0.352
18	2747645	G	C	18	2747647	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.G3927C:p.K1309N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.G3927C:p.K1309N;ENSG00000101596:ENST00000577880:exon19:c.G2340C:p.K780N;ENSG00000101596:ENST00000261598:exon30:c.G3927C:p.K1309N;	0.734240063499438	0.63
18	2747645	G	T	18	2747647	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon30:c.G3927T:p.K1309N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon30:c.G3927T:p.K1309N;ENSG00000101596:ENST00000577880:exon19:c.G2340T:p.K780N;ENSG00000101596:ENST00000261598:exon30:c.G3927T:p.K1309N;	0.823743321487176	0.74
18	2747646	G	A	18	2747648	y	y	splicing	SMCHD1(NM_015295:exon30:c.3927+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3927+1G>A;ENST00000261598:exon30:c.3927+1G>A;ENST00000577880:exon19:c.2340+1G>A;ENST00000584897:exon15:c.1747+1G>A)	.	.	0.999940858364002	0.902
18	2747646	G	C	18	2747648	y	y	splicing	SMCHD1(NM_015295:exon30:c.3927+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3927+1G>C;ENST00000261598:exon30:c.3927+1G>C;ENST00000577880:exon19:c.2340+1G>C;ENST00000584897:exon15:c.1747+1G>C)	.	.	0.99996469115006	0.91
18	2747646	G	T	18	2747648	y	y	splicing	SMCHD1(NM_015295:exon30:c.3927+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3927+1G>T;ENST00000261598:exon30:c.3927+1G>T;ENST00000577880:exon19:c.2340+1G>T;ENST00000584897:exon15:c.1747+1G>T)	.	.	0.99996469115006	0.908
18	2747647	T	A	18	2747649	y	y	splicing	SMCHD1(NM_015295:exon30:c.3927+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3927+2T>A;ENST00000261598:exon30:c.3927+2T>A;ENST00000577880:exon19:c.2340+2T>A;ENST00000584897:exon15:c.1747+2T>A)	.	.	0.999971317418422	0.892
18	2747647	T	C	18	2747649	y	y	splicing	SMCHD1(NM_015295:exon30:c.3927+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3927+2T>C;ENST00000261598:exon30:c.3927+2T>C;ENST00000577880:exon19:c.2340+2T>C;ENST00000584897:exon15:c.1747+2T>C)	.	.	0.9648338102521	0.58
18	2747647	T	G	18	2747649	y	y	splicing	SMCHD1(NM_015295:exon30:c.3927+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon30:c.3927+2T>G;ENST00000261598:exon30:c.3927+2T>G;ENST00000577880:exon19:c.2340+2T>G;ENST00000584897:exon15:c.1747+2T>G)	.	.	0.999971317418422	0.888
18	2747648	A	C	18	2747650	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.283068570992692	0.56
18	2747648	A	G	18	2747650	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00117559853142442	0.06
18	2747648	A	T	18	2747650	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.232148932713793	0.51
18	2747649	A	C	18	2747651	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0191786949547254	0.268
18	2747649	A	G	18	2747651	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0123353167834859	0.298
18	2747649	A	T	18	2747651	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.017289543681607	0.228
18	2747650	G	A	18	2747652	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.753784225545107	0.442
18	2747650	G	C	18	2747652	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.616345159055654	0.444
18	2747650	G	T	18	2747652	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.432030926362858	0.458
18	2747651	T	A	18	2747653	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02428984452917E-4	0.064
18	2747651	T	C	18	2747653	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.10041396103052E-4	0.03
18	2747651	T	G	18	2747653	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.09210762011596E-4	0.028
18	2747652	T	A	18	2747654	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.86590924201456E-5	0.016
18	2747652	T	C	18	2747654	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.75731857949287E-5	0.0
18	2747652	T	G	18	2747654	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.86590924201456E-5	0.0
18	2747653	T	A	18	2747655	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.49011727534591E-5	0.0
18	2747653	T	C	18	2747655	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.52594961860083E-5	0.018
18	2747653	T	G	18	2747655	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.52594961860083E-5	0.0
18	2750029	T	A	18	2750031	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0173723721001848	0.36
18	2750029	T	C	18	2750031	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.62284794028916E-4	0.008
18	2750029	T	G	18	2750031	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0126085826184737	0.38
18	2750030	T	A	18	2750032	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0940727354213283	0.468
18	2750030	T	C	18	2750032	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00341805657201336	0.226
18	2750030	T	G	18	2750032	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.076326536610821	0.438
18	2750031	T	A	18	2750033	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.026553425288073	0.364
18	2750031	T	C	18	2750033	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.45936831249375E-4	0.02
18	2750031	T	G	18	2750033	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0153601149571866	0.404
18	2750032	T	A	18	2750034	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99972453573343	0.892
18	2750032	T	C	18	2750034	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0162926892594511	0.118
18	2750032	T	G	18	2750034	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.675028018783101	0.61
18	2750033	G	A	18	2750035	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.76189873086442E-4	0.006
18	2750033	G	C	18	2750035	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.50831555320702E-5	0.006
18	2750033	G	T	18	2750035	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.53546917234729E-5	0.004
18	2750034	T	A	18	2750036	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00322124168575667	0.218
18	2750034	T	C	18	2750036	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.72240756089034E-5	0.0
18	2750034	T	G	18	2750036	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00238805480370224	0.194
18	2750035	T	A	18	2750037	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.816800077192699	0.568
18	2750035	T	C	18	2750037	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00358612020976509	0.076
18	2750035	T	G	18	2750037	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.490244397843339	0.538
18	2750036	T	A	18	2750038	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.867549352259382	0.616
18	2750036	T	C	18	2750038	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0877238232848473	0.234
18	2750036	T	G	18	2750038	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.926974986386063	0.602
18	2750037	T	A	18	2750039	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.47596233113056E-4	0.002
18	2750037	T	C	18	2750039	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.99946773384579E-5	0.0
18	2750037	T	G	18	2750039	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.81251412291057E-4	0.004
18	2750038	T	A	18	2750040	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0182881441042167	0.206
18	2750038	T	C	18	2750040	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.67955150898568E-4	0.018
18	2750038	T	G	18	2750040	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999139584057052	0.722
18	2750039	A	C	18	2750041	y	y	splicing	SMCHD1(NM_015295:exon31:c.3928-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.3928-2A>C;ENST00000261598:exon31:c.3928-2A>C;ENST00000577880:exon20:c.2341-2A>C;ENST00000584897:exon16:c.1748-2A>C)	.	.	0.999988247793601	0.928
18	2750039	A	G	18	2750041	y	y	splicing	SMCHD1(NM_015295:exon31:c.3928-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.3928-2A>G;ENST00000261598:exon31:c.3928-2A>G;ENST00000577880:exon20:c.2341-2A>G;ENST00000584897:exon16:c.1748-2A>G)	.	.	0.999988247793601	0.928
18	2750039	A	T	18	2750041	y	y	splicing	SMCHD1(NM_015295:exon31:c.3928-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.3928-2A>T;ENST00000261598:exon31:c.3928-2A>T;ENST00000577880:exon20:c.2341-2A>T;ENST00000584897:exon16:c.1748-2A>T)	.	.	0.999988247793601	0.928
18	2750040	G	A	18	2750042	y	y	splicing	SMCHD1(NM_015295:exon31:c.3928-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.3928-1G>A;ENST00000261598:exon31:c.3928-1G>A;ENST00000577880:exon20:c.2341-1G>A;ENST00000584897:exon16:c.1748-1G>A)	.	.	0.999990361384395	0.936
18	2750040	G	C	18	2750042	y	y	splicing	SMCHD1(NM_015295:exon31:c.3928-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.3928-1G>C;ENST00000261598:exon31:c.3928-1G>C;ENST00000577880:exon20:c.2341-1G>C;ENST00000584897:exon16:c.1748-1G>C)	.	.	0.999990361384395	0.936
18	2750040	G	T	18	2750042	y	y	splicing	SMCHD1(NM_015295:exon31:c.3928-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.3928-1G>T;ENST00000261598:exon31:c.3928-1G>T;ENST00000577880:exon20:c.2341-1G>T;ENST00000584897:exon16:c.1748-1G>T)	.	.	0.999990361384395	0.936
18	2750041	C	A	18	2750043	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.C3928A:p.L1310I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.C3928A:p.L1310I;ENSG00000101596:ENST00000577880:exon20:c.C2341A:p.L781I;ENSG00000101596:ENST00000261598:exon31:c.C3928A:p.L1310I;	0.00638959380953532	0.064
18	2750041	C	G	18	2750043	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.C3928G:p.L1310V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.C3928G:p.L1310V;ENSG00000101596:ENST00000577880:exon20:c.C2341G:p.L781V;ENSG00000101596:ENST00000261598:exon31:c.C3928G:p.L1310V;	0.00518460453561118	0.068
18	2750041	C	T	18	2750043	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.C3928T:p.L1310F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.C3928T:p.L1310F;ENSG00000101596:ENST00000577880:exon20:c.C2341T:p.L781F;ENSG00000101596:ENST00000261598:exon31:c.C3928T:p.L1310F;	0.989370224897151	0.864
18	2750042	T	A	18	2750044	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.T3929A:p.L1310H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.T3929A:p.L1310H;ENSG00000101596:ENST00000577880:exon20:c.T2342A:p.L781H;ENSG00000101596:ENST00000261598:exon31:c.T3929A:p.L1310H;	0.388460726227772	0.48
18	2750042	T	C	18	2750044	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.T3929C:p.L1310P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.T3929C:p.L1310P;ENSG00000101596:ENST00000577880:exon20:c.T2342C:p.L781P;ENSG00000101596:ENST00000261598:exon31:c.T3929C:p.L1310P;	0.422995899154368	0.512
18	2750042	T	G	18	2750044	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.T3929G:p.L1310R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.T3929G:p.L1310R;ENSG00000101596:ENST00000577880:exon20:c.T2342G:p.L781R;ENSG00000101596:ENST00000261598:exon31:c.T3929G:p.L1310R;	0.561396035045829	0.578
18	2750118	T	A	18	2750120	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon31:c.T4005A:p.P1335P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.T4005A:p.P1335P;ENSG00000101596:ENST00000577880:exon20:c.T2418A:p.P806P;ENSG00000101596:ENST00000261598:exon31:c.T4005A:p.P1335P;	4.68074815214359E-5	0.0
18	2750118	T	C	18	2750120	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon31:c.T4005C:p.P1335P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.T4005C:p.P1335P;ENSG00000101596:ENST00000577880:exon20:c.T2418C:p.P806P;ENSG00000101596:ENST00000261598:exon31:c.T4005C:p.P1335P;	2.03194748262725E-5	0.002
18	2750118	T	G	18	2750120	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon31:c.T4005G:p.P1335P;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.T4005G:p.P1335P;ENSG00000101596:ENST00000577880:exon20:c.T2418G:p.P806P;ENSG00000101596:ENST00000261598:exon31:c.T4005G:p.P1335P;	6.59838158064857E-5	0.028
18	2750119	A	C	18	2750121	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon31:c.A4006C:p.R1336R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.A4006C:p.R1336R;ENSG00000101596:ENST00000577880:exon20:c.A2419C:p.R807R;ENSG00000101596:ENST00000261598:exon31:c.A4006C:p.R1336R;	0.0394960805647568	0.394
18	2750119	A	G	18	2750121	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.A4006G:p.R1336G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.A4006G:p.R1336G;ENSG00000101596:ENST00000577880:exon20:c.A2419G:p.R807G;ENSG00000101596:ENST00000261598:exon31:c.A4006G:p.R1336G;	0.0717007281165334	0.24
18	2750119	A	T	18	2750121	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.A4006T:p.R1336W;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.A4006T:p.R1336W;ENSG00000101596:ENST00000577880:exon20:c.A2419T:p.R807W;ENSG00000101596:ENST00000261598:exon31:c.A4006T:p.R1336W;	0.527523471735269	0.598
18	2750120	G	A	18	2750122	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.G4007A:p.R1336K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.G4007A:p.R1336K;ENSG00000101596:ENST00000577880:exon20:c.G2420A:p.R807K;ENSG00000101596:ENST00000261598:exon31:c.G4007A:p.R1336K;	0.993372784668833	0.706
18	2750120	G	C	18	2750122	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.G4007C:p.R1336T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.G4007C:p.R1336T;ENSG00000101596:ENST00000577880:exon20:c.G2420C:p.R807T;ENSG00000101596:ENST00000261598:exon31:c.G4007C:p.R1336T;	0.998079016976794	0.854
18	2750120	G	T	18	2750122	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon31:c.G4007T:p.R1336M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon31:c.G4007T:p.R1336M;ENSG00000101596:ENST00000577880:exon20:c.G2420T:p.R807M;ENSG00000101596:ENST00000261598:exon31:c.G4007T:p.R1336M;	0.999965135917385	0.97
18	2750121	G	A	18	2750123	y	y	splicing	SMCHD1(NM_015295:exon31:c.4007+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.4007+1G>A;ENST00000261598:exon31:c.4007+1G>A;ENST00000577880:exon20:c.2420+1G>A;ENST00000584897:exon16:c.1827+1G>A)	.	.	0.99995545544995	0.948
18	2750121	G	C	18	2750123	y	y	splicing	SMCHD1(NM_015295:exon31:c.4007+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.4007+1G>C;ENST00000261598:exon31:c.4007+1G>C;ENST00000577880:exon20:c.2420+1G>C;ENST00000584897:exon16:c.1827+1G>C)	.	.	0.99995586615188	0.948
18	2750121	G	T	18	2750123	y	y	splicing	SMCHD1(NM_015295:exon31:c.4007+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.4007+1G>T;ENST00000261598:exon31:c.4007+1G>T;ENST00000577880:exon20:c.2420+1G>T;ENST00000584897:exon16:c.1827+1G>T)	.	.	0.99995545544995	0.948
18	2750122	T	A	18	2750124	y	y	splicing	SMCHD1(NM_015295:exon31:c.4007+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.4007+2T>A;ENST00000261598:exon31:c.4007+2T>A;ENST00000577880:exon20:c.2420+2T>A;ENST00000584897:exon16:c.1827+2T>A)	.	.	0.99994568797423	0.946
18	2750122	T	C	18	2750124	y	y	splicing	SMCHD1(NM_015295:exon31:c.4007+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.4007+2T>C;ENST00000261598:exon31:c.4007+2T>C;ENST00000577880:exon20:c.2420+2T>C;ENST00000584897:exon16:c.1827+2T>C)	.	.	0.982381007522742	0.724
18	2750122	T	G	18	2750124	y	y	splicing	SMCHD1(NM_015295:exon31:c.4007+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon31:c.4007+2T>G;ENST00000261598:exon31:c.4007+2T>G;ENST00000577880:exon20:c.2420+2T>G;ENST00000584897:exon16:c.1827+2T>G)	.	.	0.999946188727699	0.946
18	2750123	A	C	18	2750125	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.987735442785789	0.694
18	2750123	A	G	18	2750125	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.230812603225488	0.426
18	2750123	A	T	18	2750125	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.991521916825246	0.698
18	2750124	A	C	18	2750126	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.517111655567777	0.498
18	2750124	A	G	18	2750126	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.812397186388012	0.512
18	2750124	A	T	18	2750126	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.517111655567777	0.534
18	2750125	G	A	18	2750127	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997288556808738	0.89
18	2750125	G	C	18	2750127	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997345718790592	0.826
18	2750125	G	T	18	2750127	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997951712009513	0.656
18	2750126	A	C	18	2750128	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.09136498024399E-4	0.042
18	2750126	A	G	18	2750128	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.06425211918016E-4	0.004
18	2750126	A	T	18	2750128	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.82447961248331E-5	0.008
18	2750127	A	C	18	2750129	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.21052313169262E-5	0.0
18	2750127	A	G	18	2750129	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.37112408906228E-5	0.0
18	2750127	A	T	18	2750129	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.42257032480281E-5	0.0
18	2750128	C	A	18	2750130	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.59007098514123E-5	0.044
18	2750128	C	G	18	2750130	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.59007098514123E-5	0.044
18	2750128	C	T	18	2750130	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.59007098514123E-5	0.052
18	2750336	T	A	18	2750338	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00116361783804211	0.316
18	2750336	T	C	18	2750338	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.23300302661577E-6	0.008
18	2750336	T	G	18	2750338	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.03219284081705E-4	0.262
18	2750337	T	A	18	2750339	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999602255068993	0.936
18	2750337	T	C	18	2750339	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.57660442854315E-4	0.128
18	2750337	T	G	18	2750339	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.114891571905689	0.386
18	2750338	G	A	18	2750340	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.57360965153669E-5	0.002
18	2750338	G	C	18	2750340	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.14616030754129E-5	0.0
18	2750338	G	T	18	2750340	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.32645779945563E-5	0.008
18	2750339	T	A	18	2750341	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00990624109242278	0.28
18	2750339	T	C	18	2750341	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.83338756440771E-5	0.002
18	2750339	T	G	18	2750341	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00453367289025764	0.296
18	2750340	T	A	18	2750342	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00666436657610497	0.248
18	2750340	T	C	18	2750342	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.10083314434055E-5	0.004
18	2750340	T	G	18	2750342	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.29794446794789E-4	0.208
18	2750341	T	A	18	2750343	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0367208407475454	0.26
18	2750341	T	C	18	2750343	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.90375571149121E-5	0.002
18	2750341	T	G	18	2750343	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00100615751776718	0.21
18	2750342	T	A	18	2750344	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.992761479119963	0.722
18	2750342	T	C	18	2750344	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.46137549693079E-5	0.0
18	2750342	T	G	18	2750344	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00142190490523271	0.156
18	2750343	G	A	18	2750345	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.26633615123251E-5	0.034
18	2750343	G	C	18	2750345	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.80398189410367E-5	0.12
18	2750343	G	T	18	2750345	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.00520568322477E-5	0.128
18	2750344	T	A	18	2750346	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.01843494861848E-5	0.01
18	2750344	T	C	18	2750346	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.86848916332193E-5	0.012
18	2750344	T	G	18	2750346	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.82210670834331E-5	0.012
18	2750345	T	A	18	2750347	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00929142640078003	0.216
18	2750345	T	C	18	2750347	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.94483153061754E-5	0.026
18	2750345	T	G	18	2750347	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.994963601590445	0.662
18	2750346	A	C	18	2750348	y	y	splicing	SMCHD1(NM_015295:exon32:c.4008-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4008-2A>C;ENST00000261598:exon32:c.4008-2A>C;ENST00000577880:exon21:c.2421-2A>C;ENST00000584897:exon17:c.1828-2A>C)	.	.	0.999962958601995	0.836
18	2750346	A	G	18	2750348	y	y	splicing	SMCHD1(NM_015295:exon32:c.4008-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4008-2A>G;ENST00000261598:exon32:c.4008-2A>G;ENST00000577880:exon21:c.2421-2A>G;ENST00000584897:exon17:c.1828-2A>G)	.	.	0.999962958601995	0.834
18	2750346	A	T	18	2750348	y	y	splicing	SMCHD1(NM_015295:exon32:c.4008-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4008-2A>T;ENST00000261598:exon32:c.4008-2A>T;ENST00000577880:exon21:c.2421-2A>T;ENST00000584897:exon17:c.1828-2A>T)	.	.	0.999969255906173	0.846
18	2750347	G	A	18	2750349	y	y	splicing	SMCHD1(NM_015295:exon32:c.4008-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4008-1G>A;ENST00000261598:exon32:c.4008-1G>A;ENST00000577880:exon21:c.2421-1G>A;ENST00000584897:exon17:c.1828-1G>A)	.	.	0.999971412033808	0.876
18	2750347	G	C	18	2750349	y	y	splicing	SMCHD1(NM_015295:exon32:c.4008-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4008-1G>C;ENST00000261598:exon32:c.4008-1G>C;ENST00000577880:exon21:c.2421-1G>C;ENST00000584897:exon17:c.1828-1G>C)	.	.	0.999971837025153	0.862
18	2750347	G	T	18	2750349	y	y	splicing	SMCHD1(NM_015295:exon32:c.4008-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4008-1G>T;ENST00000261598:exon32:c.4008-1G>T;ENST00000577880:exon21:c.2421-1G>T;ENST00000584897:exon17:c.1828-1G>T)	.	.	0.999971412033808	0.864
18	2750348	G	A	18	2750350	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon32:c.G4008A:p.R1336R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.G4008A:p.R1336R;ENSG00000101596:ENST00000577880:exon21:c.G2421A:p.R807R;ENSG00000101596:ENST00000261598:exon32:c.G4008A:p.R1336R;	0.00108305440367823	0.106
18	2750348	G	C	18	2750350	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.G4008C:p.R1336S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.G4008C:p.R1336S;ENSG00000101596:ENST00000577880:exon21:c.G2421C:p.R807S;ENSG00000101596:ENST00000261598:exon32:c.G4008C:p.R1336S;	0.00266765144230267	0.134
18	2750348	G	T	18	2750350	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.G4008T:p.R1336S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.G4008T:p.R1336S;ENSG00000101596:ENST00000577880:exon21:c.G2421T:p.R807S;ENSG00000101596:ENST00000261598:exon32:c.G4008T:p.R1336S;	0.0546306232666838	0.286
18	2750349	G	A	18	2750351	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.G4009A:p.G1337R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.G4009A:p.G1337R;ENSG00000101596:ENST00000577880:exon21:c.G2422A:p.G808R;ENSG00000101596:ENST00000261598:exon32:c.G4009A:p.G1337R;	0.945342000713261	0.798
18	2750349	G	C	18	2750351	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.G4009C:p.G1337R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.G4009C:p.G1337R;ENSG00000101596:ENST00000577880:exon21:c.G2422C:p.G808R;ENSG00000101596:ENST00000261598:exon32:c.G4009C:p.G1337R;	0.892269105343648	0.73
18	2750349	G	T	18	2750351	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon32:c.G4009T:p.G1337X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon32:c.G4009T:p.G1337X;ENSG00000101596:ENST00000577880:exon21:c.G2422T:p.G808X;ENSG00000101596:ENST00000261598:exon32:c.G4009T:p.G1337X;	0.979735964239578	0.92
18	2750503	C	A	18	2750505	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.C4163A:p.T1388N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.C4163A:p.T1388N;ENSG00000101596:ENST00000577880:exon21:c.C2576A:p.T859N;ENSG00000101596:ENST00000261598:exon32:c.C4163A:p.T1388N;	0.966490242352495	0.804
18	2750503	C	G	18	2750505	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.C4163G:p.T1388S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.C4163G:p.T1388S;ENSG00000101596:ENST00000577880:exon21:c.C2576G:p.T859S;ENSG00000101596:ENST00000261598:exon32:c.C4163G:p.T1388S;	0.910575770460873	0.582
18	2750503	C	T	18	2750505	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.C4163T:p.T1388I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.C4163T:p.T1388I;ENSG00000101596:ENST00000577880:exon21:c.C2576T:p.T859I;ENSG00000101596:ENST00000261598:exon32:c.C4163T:p.T1388I;	0.998784508858005	0.712
18	2750504	T	A	18	2750506	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon32:c.T4164A:p.T1388T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.T4164A:p.T1388T;ENSG00000101596:ENST00000577880:exon21:c.T2577A:p.T859T;ENSG00000101596:ENST00000261598:exon32:c.T4164A:p.T1388T;	0.00162245432706892	0.13
18	2750504	T	C	18	2750506	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon32:c.T4164C:p.T1388T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.T4164C:p.T1388T;ENSG00000101596:ENST00000577880:exon21:c.T2577C:p.T859T;ENSG00000101596:ENST00000261598:exon32:c.T4164C:p.T1388T;	0.00973206241040093	0.116
18	2750504	T	G	18	2750506	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon32:c.T4164G:p.T1388T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.T4164G:p.T1388T;ENSG00000101596:ENST00000577880:exon21:c.T2577G:p.T859T;ENSG00000101596:ENST00000261598:exon32:c.T4164G:p.T1388T;	0.0209865964829239	0.13
18	2750505	G	A	18	2750507	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.G4165A:p.D1389N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.G4165A:p.D1389N;ENSG00000101596:ENST00000577880:exon21:c.G2578A:p.D860N;ENSG00000101596:ENST00000261598:exon32:c.G4165A:p.D1389N;	0.999955045929123	0.992
18	2750505	G	C	18	2750507	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.G4165C:p.D1389H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.G4165C:p.D1389H;ENSG00000101596:ENST00000577880:exon21:c.G2578C:p.D860H;ENSG00000101596:ENST00000261598:exon32:c.G4165C:p.D1389H;	0.99997629615279	0.974
18	2750505	G	T	18	2750507	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon32:c.G4165T:p.D1389Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon32:c.G4165T:p.D1389Y;ENSG00000101596:ENST00000577880:exon21:c.G2578T:p.D860Y;ENSG00000101596:ENST00000261598:exon32:c.G4165T:p.D1389Y;	0.999962061264434	0.89
18	2750506	G	A	18	2750508	y	y	splicing	SMCHD1(NM_015295:exon32:c.4165+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4165+1G>A;ENST00000261598:exon32:c.4165+1G>A;ENST00000577880:exon21:c.2578+1G>A;ENST00000584897:exon17:c.1985+1G>A)	.	.	0.999990361384395	0.938
18	2750506	G	C	18	2750508	y	y	splicing	SMCHD1(NM_015295:exon32:c.4165+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4165+1G>C;ENST00000261598:exon32:c.4165+1G>C;ENST00000577880:exon21:c.2578+1G>C;ENST00000584897:exon17:c.1985+1G>C)	.	.	0.999990361384395	0.938
18	2750506	G	T	18	2750508	y	y	splicing	SMCHD1(NM_015295:exon32:c.4165+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4165+1G>T;ENST00000261598:exon32:c.4165+1G>T;ENST00000577880:exon21:c.2578+1G>T;ENST00000584897:exon17:c.1985+1G>T)	.	.	0.999990361384395	0.938
18	2750507	T	A	18	2750509	y	y	splicing	SMCHD1(NM_015295:exon32:c.4165+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4165+2T>A;ENST00000261598:exon32:c.4165+2T>A;ENST00000577880:exon21:c.2578+2T>A;ENST00000584897:exon17:c.1985+2T>A)	.	.	0.999988247793601	0.932
18	2750507	T	C	18	2750509	y	y	splicing	SMCHD1(NM_015295:exon32:c.4165+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4165+2T>C;ENST00000261598:exon32:c.4165+2T>C;ENST00000577880:exon21:c.2578+2T>C;ENST00000584897:exon17:c.1985+2T>C)	.	.	0.999929727175276	0.87
18	2750507	T	G	18	2750509	y	y	splicing	SMCHD1(NM_015295:exon32:c.4165+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon32:c.4165+2T>G;ENST00000261598:exon32:c.4165+2T>G;ENST00000577880:exon21:c.2578+2T>G;ENST00000584897:exon17:c.1985+2T>G)	.	.	0.999988247793601	0.932
18	2750508	G	A	18	2750510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.82789831418459E-4	0.006
18	2750508	G	C	18	2750510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.916333274137604	0.662
18	2750508	G	T	18	2750510	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.474393795663541	0.482
18	2750509	A	C	18	2750511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996620618445081	0.754
18	2750509	A	G	18	2750511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998373364341412	0.87
18	2750509	A	T	18	2750511	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999130758145553	0.874
18	2750510	G	A	18	2750512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999912026623758	0.968
18	2750510	G	C	18	2750512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999959093863034	0.906
18	2750510	G	T	18	2750512	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999912837705714	0.908
18	2750511	T	A	18	2750513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.632317162559497	0.728
18	2750511	T	C	18	2750513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.267181513615018	0.63
18	2750511	T	G	18	2750513	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.196603909016035	0.41
18	2750512	A	C	18	2750514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.50014361262222E-4	0.0
18	2750512	A	G	18	2750514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.03789903775416E-4	0.0
18	2750512	A	T	18	2750514	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.33049774251034E-4	0.004
18	2750513	T	A	18	2750515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.55533203735188E-5	0.0
18	2750513	T	C	18	2750515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.55533203735188E-5	0.0
18	2750513	T	G	18	2750515	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.55533203735188E-5	0.0
18	2751264	T	A	18	2751266	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.848256669585761	0.694
18	2751264	T	C	18	2751266	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00146635503327007	0.054
18	2751264	T	G	18	2751266	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.042879405754094	0.548
18	2751265	T	A	18	2751267	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.861705143472192	0.692
18	2751265	T	C	18	2751267	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00289541287740235	0.156
18	2751265	T	G	18	2751267	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.656157968712742	0.648
18	2751266	A	C	18	2751268	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.0849720103134E-5	0.02
18	2751266	A	G	18	2751268	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.15301645739674E-5	0.028
18	2751266	A	T	18	2751268	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.74819481962627E-5	0.032
18	2751267	C	A	18	2751269	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.91988323876583E-4	0.012
18	2751267	C	G	18	2751269	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.971613733264381	0.88
18	2751267	C	T	18	2751269	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.91683211707006E-5	0.0
18	2751268	C	A	18	2751270	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0013569278117293	0.102
18	2751268	C	G	18	2751270	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00232130456376876	0.11
18	2751268	C	T	18	2751270	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.53146074307587E-5	0.008
18	2751269	A	C	18	2751271	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.34044942339262E-5	0.014
18	2751269	A	G	18	2751271	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.24469011323681E-5	0.01
18	2751269	A	T	18	2751271	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.0849720103134E-5	0.016
18	2751270	T	A	18	2751272	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998978018022818	0.974
18	2751270	T	C	18	2751272	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.53161110809002E-4	0.014
18	2751270	T	G	18	2751272	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998230361620793	0.952
18	2751271	G	A	18	2751273	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.42708895242304E-5	0.054
18	2751271	G	C	18	2751273	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.64509414855377E-6	0.012
18	2751271	G	T	18	2751273	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.06552985083768E-6	0.03
18	2751272	A	C	18	2751274	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00115356137548254	0.04
18	2751272	A	G	18	2751274	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.48008552053177E-4	0.062
18	2751272	A	T	18	2751274	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.29447476727575E-4	0.014
18	2751273	C	A	18	2751275	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.98125129803195	0.814
18	2751273	C	G	18	2751275	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99963829459732	0.86
18	2751273	C	T	18	2751275	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0382749466439075	0.266
18	2751274	A	C	18	2751276	y	y	splicing	SMCHD1(NM_015295:exon33:c.4166-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4166-2A>C;ENST00000261598:exon33:c.4166-2A>C;ENST00000577880:exon22:c.2579-2A>C;ENST00000584897:exon18:c.1986-2A>C)	.	.	0.999980507575035	0.924
18	2751274	A	G	18	2751276	y	y	splicing	SMCHD1(NM_015295:exon33:c.4166-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4166-2A>G;ENST00000261598:exon33:c.4166-2A>G;ENST00000577880:exon22:c.2579-2A>G;ENST00000584897:exon18:c.1986-2A>G)	.	.	0.999980507575035	0.924
18	2751274	A	T	18	2751276	y	y	splicing	SMCHD1(NM_015295:exon33:c.4166-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4166-2A>T;ENST00000261598:exon33:c.4166-2A>T;ENST00000577880:exon22:c.2579-2A>T;ENST00000584897:exon18:c.1986-2A>T)	.	.	0.999963488877035	0.924
18	2751275	G	A	18	2751277	y	y	splicing	SMCHD1(NM_015295:exon33:c.4166-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4166-1G>A;ENST00000261598:exon33:c.4166-1G>A;ENST00000577880:exon22:c.2579-1G>A;ENST00000584897:exon18:c.1986-1G>A)	.	.	0.999976985241848	0.908
18	2751275	G	C	18	2751277	y	y	splicing	SMCHD1(NM_015295:exon33:c.4166-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4166-1G>C;ENST00000261598:exon33:c.4166-1G>C;ENST00000577880:exon22:c.2579-1G>C;ENST00000584897:exon18:c.1986-1G>C)	.	.	0.999976985241848	0.912
18	2751275	G	T	18	2751277	y	y	splicing	SMCHD1(NM_015295:exon33:c.4166-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4166-1G>T;ENST00000261598:exon33:c.4166-1G>T;ENST00000577880:exon22:c.2579-1G>T;ENST00000584897:exon18:c.1986-1G>T)	.	.	0.999976985241848	0.912
18	2751276	A	C	18	2751278	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4166C:p.D1389A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4166C:p.D1389A;ENSG00000101596:ENST00000577880:exon22:c.A2579C:p.D860A;ENSG00000101596:ENST00000261598:exon33:c.A4166C:p.D1389A;	0.0112771279698286	0.16
18	2751276	A	G	18	2751278	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4166G:p.D1389G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4166G:p.D1389G;ENSG00000101596:ENST00000577880:exon22:c.A2579G:p.D860G;ENSG00000101596:ENST00000261598:exon33:c.A4166G:p.D1389G;	0.0112183718973927	0.18
18	2751276	A	T	18	2751278	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4166T:p.D1389V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4166T:p.D1389V;ENSG00000101596:ENST00000577880:exon22:c.A2579T:p.D860V;ENSG00000101596:ENST00000261598:exon33:c.A4166T:p.D1389V;	0.0374267596121644	0.198
18	2751277	T	A	18	2751279	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.T4167A:p.D1389E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.T4167A:p.D1389E;ENSG00000101596:ENST00000577880:exon22:c.T2580A:p.D860E;ENSG00000101596:ENST00000261598:exon33:c.T4167A:p.D1389E;	0.00175576062468474	0.108
18	2751277	T	C	18	2751279	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon33:c.T4167C:p.D1389D;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.T4167C:p.D1389D;ENSG00000101596:ENST00000577880:exon22:c.T2580C:p.D860D;ENSG00000101596:ENST00000261598:exon33:c.T4167C:p.D1389D;	0.0186387415144439	0.088
18	2751277	T	G	18	2751279	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.T4167G:p.D1389E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.T4167G:p.D1389E;ENSG00000101596:ENST00000577880:exon22:c.T2580G:p.D860E;ENSG00000101596:ENST00000261598:exon33:c.T4167G:p.D1389E;	0.00186184953362831	0.064
18	2751389	A	C	18	2751391	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4279C:p.N1427H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4279C:p.N1427H;ENSG00000101596:ENST00000577880:exon22:c.A2692C:p.N898H;ENSG00000101596:ENST00000261598:exon33:c.A4279C:p.N1427H;	0.0598554973057182	0.3
18	2751389	A	G	18	2751391	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4279G:p.N1427D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4279G:p.N1427D;ENSG00000101596:ENST00000577880:exon22:c.A2692G:p.N898D;ENSG00000101596:ENST00000261598:exon33:c.A4279G:p.N1427D;	9.89602232698479E-4	0.044
18	2751389	A	T	18	2751391	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4279T:p.N1427Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4279T:p.N1427Y;ENSG00000101596:ENST00000577880:exon22:c.A2692T:p.N898Y;ENSG00000101596:ENST00000261598:exon33:c.A4279T:p.N1427Y;	0.899606175841575	0.52
18	2751390	A	C	18	2751392	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4280C:p.N1427T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4280C:p.N1427T;ENSG00000101596:ENST00000577880:exon22:c.A2693C:p.N898T;ENSG00000101596:ENST00000261598:exon33:c.A4280C:p.N1427T;	0.255492488584335	0.592
18	2751390	A	G	18	2751392	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4280G:p.N1427S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4280G:p.N1427S;ENSG00000101596:ENST00000577880:exon22:c.A2693G:p.N898S;ENSG00000101596:ENST00000261598:exon33:c.A4280G:p.N1427S;	0.565010995528612	0.508
18	2751390	A	T	18	2751392	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.A4280T:p.N1427I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.A4280T:p.N1427I;ENSG00000101596:ENST00000577880:exon22:c.A2693T:p.N898I;ENSG00000101596:ENST00000261598:exon33:c.A4280T:p.N1427I;	0.980125594070868	0.742
18	2751391	T	A	18	2751393	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.T4281A:p.N1427K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.T4281A:p.N1427K;ENSG00000101596:ENST00000577880:exon22:c.T2694A:p.N898K;ENSG00000101596:ENST00000261598:exon33:c.T4281A:p.N1427K;	2.42924730794778E-4	0.004
18	2751391	T	C	18	2751393	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon33:c.T4281C:p.N1427N;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.T4281C:p.N1427N;ENSG00000101596:ENST00000577880:exon22:c.T2694C:p.N898N;ENSG00000101596:ENST00000261598:exon33:c.T4281C:p.N1427N;	0.00100108547130846	0.1
18	2751391	T	G	18	2751393	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon33:c.T4281G:p.N1427K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon33:c.T4281G:p.N1427K;ENSG00000101596:ENST00000577880:exon22:c.T2694G:p.N898K;ENSG00000101596:ENST00000261598:exon33:c.T4281G:p.N1427K;	0.00138186777653007	0.184
18	2751392	G	A	18	2751394	y	y	splicing	SMCHD1(NM_015295:exon33:c.4281+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4281+1G>A;ENST00000261598:exon33:c.4281+1G>A;ENST00000577880:exon22:c.2694+1G>A;ENST00000584897:exon18:c.2101+1G>A)	.	.	0.999951957019574	0.892
18	2751392	G	C	18	2751394	y	y	splicing	SMCHD1(NM_015295:exon33:c.4281+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4281+1G>C;ENST00000261598:exon33:c.4281+1G>C;ENST00000577880:exon22:c.2694+1G>C;ENST00000584897:exon18:c.2101+1G>C)	.	.	0.999971317418422	0.898
18	2751392	G	T	18	2751394	y	y	splicing	SMCHD1(NM_015295:exon33:c.4281+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4281+1G>T;ENST00000261598:exon33:c.4281+1G>T;ENST00000577880:exon22:c.2694+1G>T;ENST00000584897:exon18:c.2101+1G>T)	.	.	0.999971317418422	0.9
18	2751393	T	A	18	2751395	y	y	splicing	SMCHD1(NM_015295:exon33:c.4281+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4281+2T>A;ENST00000261598:exon33:c.4281+2T>A;ENST00000577880:exon22:c.2694+2T>A;ENST00000584897:exon18:c.2101+2T>A)	.	.	0.999990611969007	0.892
18	2751393	T	C	18	2751395	y	y	splicing	SMCHD1(NM_015295:exon33:c.4281+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4281+2T>C;ENST00000261598:exon33:c.4281+2T>C;ENST00000577880:exon22:c.2694+2T>C;ENST00000584897:exon18:c.2101+2T>C)	.	.	0.999895844694215	0.81
18	2751393	T	G	18	2751395	y	y	splicing	SMCHD1(NM_015295:exon33:c.4281+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon33:c.4281+2T>G;ENST00000261598:exon33:c.4281+2T>G;ENST00000577880:exon22:c.2694+2T>G;ENST00000584897:exon18:c.2101+2T>G)	.	.	0.999985353572514	0.854
18	2751394	G	A	18	2751396	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.35683176521689E-5	0.0
18	2751394	G	C	18	2751396	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.803598730735509	0.518
18	2751394	G	T	18	2751396	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.965331115988894	0.48
18	2751395	A	C	18	2751397	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.945793502221537	0.73
18	2751395	A	G	18	2751397	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.993998733362799	0.82
18	2751395	A	T	18	2751397	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996437355457539	0.83
18	2751396	G	A	18	2751398	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999987137823199	0.972
18	2751396	G	C	18	2751398	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999901409776112	0.944
18	2751396	G	T	18	2751398	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999994574433215	0.988
18	2751397	T	A	18	2751399	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.900975531555932	0.7
18	2751397	T	C	18	2751399	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.895106600859501	0.606
18	2751397	T	G	18	2751399	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.940230425182688	0.68
18	2751398	C	A	18	2751400	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.77457243820827E-5	0.0
18	2751398	C	G	18	2751400	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.77457243820827E-5	0.0
18	2751398	C	T	18	2751400	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.73937350464513E-5	0.006
18	2751399	A	C	18	2751401	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.25788420748545E-5	0.0
18	2751399	A	G	18	2751401	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.87680416612575E-5	0.006
18	2751399	A	T	18	2751401	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.93008933363103E-5	0.0
18	2752474	T	A	18	2752476	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0167869036930099	0.408
18	2752474	T	C	18	2752476	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00125600957801364	0.074
18	2752474	T	G	18	2752476	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0130574878260426	0.38
18	2752475	C	A	18	2752477	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.15635896628329E-4	0.046
18	2752475	C	G	18	2752477	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.07403466627549E-5	0.014
18	2752475	C	T	18	2752477	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.87022296656345E-5	0.004
18	2752476	C	A	18	2752478	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.21281333195834E-4	0.016
18	2752476	C	G	18	2752478	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.31781912112596E-5	0.01
18	2752476	C	T	18	2752478	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26848964498332E-5	0.0
18	2752477	C	A	18	2752479	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.46100534153084E-4	0.05
18	2752477	C	G	18	2752479	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.92206821979101E-4	0.078
18	2752477	C	T	18	2752479	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.73545616243263E-5	0.0
18	2752478	C	A	18	2752480	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.57625117713325E-4	0.002
18	2752478	C	G	18	2752480	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.60063262304182E-4	0.012
18	2752478	C	T	18	2752480	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.81294131173097E-5	0.0
18	2752479	T	A	18	2752481	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.83083690196438E-5	0.006
18	2752479	T	C	18	2752481	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.86950731704803E-5	0.0
18	2752479	T	G	18	2752481	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.5642186206591E-5	0.006
18	2752480	T	A	18	2752482	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.85363856239571E-4	0.062
18	2752480	T	C	18	2752482	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.27404240937963E-5	0.0
18	2752480	T	G	18	2752482	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00131035786708261	0.202
18	2752481	T	A	18	2752483	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.190345917544897	0.446
18	2752481	T	C	18	2752483	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0111536449431122	0.126
18	2752481	T	G	18	2752483	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.167996238772973	0.46
18	2752482	C	A	18	2752484	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.49660933081265E-5	0.002
18	2752482	C	G	18	2752484	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.33563069630922E-5	0.002
18	2752482	C	T	18	2752484	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.49660933081265E-5	0.0
18	2752483	T	A	18	2752485	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0752340186682766	0.378
18	2752483	T	C	18	2752485	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68642206595854E-4	0.006
18	2752483	T	G	18	2752485	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.983627926824641	0.664
18	2752484	A	C	18	2752486	y	y	splicing	SMCHD1(NM_015295:exon34:c.4282-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4282-2A>C;ENST00000261598:exon34:c.4282-2A>C;ENST00000577880:exon23:c.2695-2A>C;ENST00000584897:exon19:c.2102-2A>C)	.	.	0.999978952611685	0.928
18	2752484	A	G	18	2752486	y	y	splicing	SMCHD1(NM_015295:exon34:c.4282-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4282-2A>G;ENST00000261598:exon34:c.4282-2A>G;ENST00000577880:exon23:c.2695-2A>G;ENST00000584897:exon19:c.2102-2A>G)	.	.	0.999978952611685	0.928
18	2752484	A	T	18	2752486	y	y	splicing	SMCHD1(NM_015295:exon34:c.4282-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4282-2A>T;ENST00000261598:exon34:c.4282-2A>T;ENST00000577880:exon23:c.2695-2A>T;ENST00000584897:exon19:c.2102-2A>T)	.	.	0.999988247793601	0.926
18	2752485	G	A	18	2752487	y	y	splicing	SMCHD1(NM_015295:exon34:c.4282-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4282-1G>A;ENST00000261598:exon34:c.4282-1G>A;ENST00000577880:exon23:c.2695-1G>A;ENST00000584897:exon19:c.2102-1G>A)	.	.	0.999986675681007	0.928
18	2752485	G	C	18	2752487	y	y	splicing	SMCHD1(NM_015295:exon34:c.4282-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4282-1G>C;ENST00000261598:exon34:c.4282-1G>C;ENST00000577880:exon23:c.2695-1G>C;ENST00000584897:exon19:c.2102-1G>C)	.	.	0.999986675681007	0.932
18	2752485	G	T	18	2752487	y	y	splicing	SMCHD1(NM_015295:exon34:c.4282-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4282-1G>T;ENST00000261598:exon34:c.4282-1G>T;ENST00000577880:exon23:c.2695-1G>T;ENST00000584897:exon19:c.2102-1G>T)	.	.	0.999986675681007	0.932
18	2752486	G	A	18	2752488	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.G4282A:p.A1428T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.G4282A:p.A1428T;ENSG00000101596:ENST00000577880:exon23:c.G2695A:p.A899T;ENSG00000101596:ENST00000261598:exon34:c.G4282A:p.A1428T;	0.998525427810798	0.868
18	2752486	G	C	18	2752488	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.G4282C:p.A1428P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.G4282C:p.A1428P;ENSG00000101596:ENST00000577880:exon23:c.G2695C:p.A899P;ENSG00000101596:ENST00000261598:exon34:c.G4282C:p.A1428P;	0.999660568527784	0.922
18	2752486	G	T	18	2752488	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.G4282T:p.A1428S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.G4282T:p.A1428S;ENSG00000101596:ENST00000577880:exon23:c.G2695T:p.A899S;ENSG00000101596:ENST00000261598:exon34:c.G4282T:p.A1428S;	0.999856957428315	0.956
18	2752487	C	A	18	2752489	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.C4283A:p.A1428E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.C4283A:p.A1428E;ENSG00000101596:ENST00000577880:exon23:c.C2696A:p.A899E;ENSG00000101596:ENST00000261598:exon34:c.C4283A:p.A1428E;	4.91056322013492E-4	0.088
18	2752487	C	G	18	2752489	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.C4283G:p.A1428G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.C4283G:p.A1428G;ENSG00000101596:ENST00000577880:exon23:c.C2696G:p.A899G;ENSG00000101596:ENST00000261598:exon34:c.C4283G:p.A1428G;	1.39700103864456E-4	0.016
18	2752487	C	T	18	2752489	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.C4283T:p.A1428V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.C4283T:p.A1428V;ENSG00000101596:ENST00000577880:exon23:c.C2696T:p.A899V;ENSG00000101596:ENST00000261598:exon34:c.C4283T:p.A1428V;	2.09315532735061E-4	0.046
18	2752548	C	A	18	2752550	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.C4344A:p.F1448L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.C4344A:p.F1448L;ENSG00000101596:ENST00000577880:exon23:c.C2757A:p.F919L;ENSG00000101596:ENST00000261598:exon34:c.C4344A:p.F1448L;	0.91665163389149	0.828
18	2752548	C	G	18	2752550	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.C4344G:p.F1448L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.C4344G:p.F1448L;ENSG00000101596:ENST00000577880:exon23:c.C2757G:p.F919L;ENSG00000101596:ENST00000261598:exon34:c.C4344G:p.F1448L;	0.872565126525203	0.674
18	2752548	C	T	18	2752550	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon34:c.C4344T:p.F1448F;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.C4344T:p.F1448F;ENSG00000101596:ENST00000577880:exon23:c.C2757T:p.F919F;ENSG00000101596:ENST00000261598:exon34:c.C4344T:p.F1448F;	0.99406582901557	0.914
18	2752549	A	C	18	2752551	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon34:c.A4345C:p.R1449R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.A4345C:p.R1449R;ENSG00000101596:ENST00000577880:exon23:c.A2758C:p.R920R;ENSG00000101596:ENST00000261598:exon34:c.A4345C:p.R1449R;	0.999456641939933	0.99
18	2752549	A	G	18	2752551	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.A4345G:p.R1449G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.A4345G:p.R1449G;ENSG00000101596:ENST00000577880:exon23:c.A2758G:p.R920G;ENSG00000101596:ENST00000261598:exon34:c.A4345G:p.R1449G;	0.999933320423652	1.0
18	2752549	A	T	18	2752551	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.A4345T:p.R1449W;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.A4345T:p.R1449W;ENSG00000101596:ENST00000577880:exon23:c.A2758T:p.R920W;ENSG00000101596:ENST00000261598:exon34:c.A4345T:p.R1449W;	0.999949281158456	0.992
18	2752550	G	A	18	2752552	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.G4346A:p.R1449K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.G4346A:p.R1449K;ENSG00000101596:ENST00000577880:exon23:c.G2759A:p.R920K;ENSG00000101596:ENST00000261598:exon34:c.G4346A:p.R1449K;	0.999994807411868	1.0
18	2752550	G	C	18	2752552	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.G4346C:p.R1449T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.G4346C:p.R1449T;ENSG00000101596:ENST00000577880:exon23:c.G2759C:p.R920T;ENSG00000101596:ENST00000261598:exon34:c.G4346C:p.R1449T;	0.999997023163208	1.0
18	2752550	G	T	18	2752552	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon34:c.G4346T:p.R1449M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon34:c.G4346T:p.R1449M;ENSG00000101596:ENST00000577880:exon23:c.G2759T:p.R920M;ENSG00000101596:ENST00000261598:exon34:c.G4346T:p.R1449M;	0.999983269733738	0.992
18	2752551	G	A	18	2752553	y	y	splicing	SMCHD1(NM_015295:exon34:c.4346+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4346+1G>A;ENST00000261598:exon34:c.4346+1G>A;ENST00000577880:exon23:c.2759+1G>A;ENST00000584897:exon19:c.2166+1G>A)	.	.	0.999986675681007	0.928
18	2752551	G	C	18	2752553	y	y	splicing	SMCHD1(NM_015295:exon34:c.4346+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4346+1G>C;ENST00000261598:exon34:c.4346+1G>C;ENST00000577880:exon23:c.2759+1G>C;ENST00000584897:exon19:c.2166+1G>C)	.	.	0.999986675681007	0.93
18	2752551	G	T	18	2752553	y	y	splicing	SMCHD1(NM_015295:exon34:c.4346+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4346+1G>T;ENST00000261598:exon34:c.4346+1G>T;ENST00000577880:exon23:c.2759+1G>T;ENST00000584897:exon19:c.2166+1G>T)	.	.	0.999986675681007	0.918
18	2752552	T	A	18	2752554	y	y	splicing	SMCHD1(NM_015295:exon34:c.4346+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4346+2T>A;ENST00000261598:exon34:c.4346+2T>A;ENST00000577880:exon23:c.2759+2T>A;ENST00000584897:exon19:c.2166+2T>A)	.	.	0.999988247793601	0.922
18	2752552	T	C	18	2752554	y	y	splicing	SMCHD1(NM_015295:exon34:c.4346+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4346+2T>C;ENST00000261598:exon34:c.4346+2T>C;ENST00000577880:exon23:c.2759+2T>C;ENST00000584897:exon19:c.2166+2T>C)	.	.	0.991245725732999	0.626
18	2752552	T	G	18	2752554	y	y	splicing	SMCHD1(NM_015295:exon34:c.4346+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon34:c.4346+2T>G;ENST00000261598:exon34:c.4346+2T>G;ENST00000577880:exon23:c.2759+2T>G;ENST00000584897:exon19:c.2166+2T>G)	.	.	0.999988247793601	0.922
18	2752553	A	C	18	2752555	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999971840488794	0.964
18	2752553	A	G	18	2752555	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999901768140916	0.968
18	2752553	A	T	18	2752555	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999686297233892	0.978
18	2752554	T	A	18	2752556	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.07257574041663E-4	0.128
18	2752554	T	C	18	2752556	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.49049957778781E-4	0.084
18	2752554	T	G	18	2752556	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.44833156651063E-4	0.02
18	2752555	T	A	18	2752557	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00317117547045652	0.02
18	2752555	T	C	18	2752557	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00129084176890005	0.01
18	2752555	T	G	18	2752557	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0011704561858197	0.078
18	2752556	T	A	18	2752558	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00143378411084459	0.06
18	2752556	T	C	18	2752558	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00482953822034473	0.14
18	2752556	T	G	18	2752558	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.43540202631691E-4	0.106
18	2752557	C	A	18	2752559	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.69169270895098E-4	0.008
18	2752557	C	G	18	2752559	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.82233542828863E-4	0.01
18	2752557	C	T	18	2752559	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02399541015699E-4	0.076
18	2752558	T	A	18	2752560	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0102030091569281	0.162
18	2752558	T	C	18	2752560	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00139827019042233	0.006
18	2752558	T	G	18	2752560	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00987138909334541	0.218
18	2760638	T	A	18	2760640	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.155032860678964	0.542
18	2760638	T	C	18	2760640	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00194395167088668	0.116
18	2760638	T	G	18	2760640	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.103475106567568	0.558
18	2760639	T	A	18	2760641	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.148964708165728	0.462
18	2760639	T	C	18	2760641	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.87872174181615E-4	0.194
18	2760639	T	G	18	2760641	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.224504770964938	0.388
18	2760640	T	A	18	2760642	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00425773423189856	0.334
18	2760640	T	C	18	2760642	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00200638235760462	0.044
18	2760640	T	G	18	2760642	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0305623932860477	0.354
18	2760641	T	A	18	2760643	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00487400210693648	0.168
18	2760641	T	C	18	2760643	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.97953024366917E-5	0.032
18	2760641	T	G	18	2760643	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00303472057289618	0.166
18	2760642	A	C	18	2760644	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.81216475309008E-5	0.0
18	2760642	A	G	18	2760644	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.8377877509746E-5	0.002
18	2760642	A	T	18	2760644	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.95048459408849E-5	0.0
18	2760643	A	C	18	2760645	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.31956115633822E-4	0.016
18	2760643	A	G	18	2760645	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99810468419557	0.918
18	2760643	A	T	18	2760645	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.22688321557226E-4	0.012
18	2760644	A	C	18	2760646	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.5550897530754E-4	0.022
18	2760644	A	G	18	2760646	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998516162664038	0.9
18	2760644	A	T	18	2760646	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.87436052342595E-4	0.036
18	2760645	T	A	18	2760647	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.178178645841058	0.408
18	2760645	T	C	18	2760647	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00121309039749458	0.154
18	2760645	T	G	18	2760647	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999884273933284	0.946
18	2760646	T	A	18	2760648	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.14767684272169E-4	0.022
18	2760646	T	C	18	2760648	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.02730163572463E-5	0.004
18	2760646	T	G	18	2760648	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00106560916417293	0.05
18	2760647	T	A	18	2760649	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0847166507292179	0.366
18	2760647	T	C	18	2760649	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.81370761085536E-5	0.058
18	2760647	T	G	18	2760649	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.972739202978644	0.658
18	2760648	A	C	18	2760650	y	y	splicing	SMCHD1(NM_015295:exon35:c.4347-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4347-2A>C;ENST00000261598:exon35:c.4347-2A>C;ENST00000577880:exon24:c.2760-2A>C;ENST00000584897:exon20:c.2167-2A>C)	.	.	0.99995820954749	0.862
18	2760648	A	G	18	2760650	y	y	splicing	SMCHD1(NM_015295:exon35:c.4347-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4347-2A>G;ENST00000261598:exon35:c.4347-2A>G;ENST00000577880:exon24:c.2760-2A>G;ENST00000584897:exon20:c.2167-2A>G)	.	.	0.99995820954749	0.86
18	2760648	A	T	18	2760650	y	y	splicing	SMCHD1(NM_015295:exon35:c.4347-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4347-2A>T;ENST00000261598:exon35:c.4347-2A>T;ENST00000577880:exon24:c.2760-2A>T;ENST00000584897:exon20:c.2167-2A>T)	.	.	0.999965314197099	0.87
18	2760649	G	A	18	2760651	y	y	splicing	SMCHD1(NM_015295:exon35:c.4347-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4347-1G>A;ENST00000261598:exon35:c.4347-1G>A;ENST00000577880:exon24:c.2760-1G>A;ENST00000584897:exon20:c.2167-1G>A)	.	.	0.999960164215612	0.92
18	2760649	G	C	18	2760651	y	y	splicing	SMCHD1(NM_015295:exon35:c.4347-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4347-1G>C;ENST00000261598:exon35:c.4347-1G>C;ENST00000577880:exon24:c.2760-1G>C;ENST00000584897:exon20:c.2167-1G>C)	.	.	0.999960164215612	0.922
18	2760649	G	T	18	2760651	y	y	splicing	SMCHD1(NM_015295:exon35:c.4347-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4347-1G>T;ENST00000261598:exon35:c.4347-1G>T;ENST00000577880:exon24:c.2760-1G>T;ENST00000584897:exon20:c.2167-1G>T)	.	.	0.999960164215612	0.922
18	2760650	G	A	18	2760652	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon35:c.G4347A:p.R1449R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4347A:p.R1449R;ENSG00000101596:ENST00000577880:exon24:c.G2760A:p.R920R;ENSG00000101596:ENST00000261598:exon35:c.G4347A:p.R1449R;	0.0157692402393903	0.348
18	2760650	G	C	18	2760652	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.G4347C:p.R1449S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4347C:p.R1449S;ENSG00000101596:ENST00000577880:exon24:c.G2760C:p.R920S;ENSG00000101596:ENST00000261598:exon35:c.G4347C:p.R1449S;	0.987450623022275	0.916
18	2760650	G	T	18	2760652	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.G4347T:p.R1449S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4347T:p.R1449S;ENSG00000101596:ENST00000577880:exon24:c.G2760T:p.R920S;ENSG00000101596:ENST00000261598:exon35:c.G4347T:p.R1449S;	0.99864132646765	0.964
18	2760651	G	A	18	2760653	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.G4348A:p.D1450N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4348A:p.D1450N;ENSG00000101596:ENST00000577880:exon24:c.G2761A:p.D921N;ENSG00000101596:ENST00000261598:exon35:c.G4348A:p.D1450N;	0.978286830480977	0.792
18	2760651	G	C	18	2760653	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.G4348C:p.D1450H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4348C:p.D1450H;ENSG00000101596:ENST00000577880:exon24:c.G2761C:p.D921H;ENSG00000101596:ENST00000261598:exon35:c.G4348C:p.D1450H;	0.978183114266795	0.726
18	2760651	G	T	18	2760653	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.G4348T:p.D1450Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4348T:p.D1450Y;ENSG00000101596:ENST00000577880:exon24:c.G2761T:p.D921Y;ENSG00000101596:ENST00000261598:exon35:c.G4348T:p.D1450Y;	0.978670023513892	0.758
18	2760735	C	A	18	2760737	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.C4432A:p.Q1478K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.C4432A:p.Q1478K;ENSG00000101596:ENST00000577880:exon24:c.C2845A:p.Q949K;ENSG00000101596:ENST00000261598:exon35:c.C4432A:p.Q1478K;	0.939000663410086	0.59
18	2760735	C	G	18	2760737	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.C4432G:p.Q1478E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.C4432G:p.Q1478E;ENSG00000101596:ENST00000577880:exon24:c.C2845G:p.Q949E;ENSG00000101596:ENST00000261598:exon35:c.C4432G:p.Q1478E;	0.97520625590255	0.714
18	2760735	C	T	18	2760737	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon35:c.C4432T:p.Q1478X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon35:c.C4432T:p.Q1478X;ENSG00000101596:ENST00000577880:exon24:c.C2845T:p.Q949X;ENSG00000101596:ENST00000261598:exon35:c.C4432T:p.Q1478X;	0.999698496959723	0.99
18	2760736	A	C	18	2760738	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.A4433C:p.Q1478P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.A4433C:p.Q1478P;ENSG00000101596:ENST00000577880:exon24:c.A2846C:p.Q949P;ENSG00000101596:ENST00000261598:exon35:c.A4433C:p.Q1478P;	0.999967564197533	1.0
18	2760736	A	G	18	2760738	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.A4433G:p.Q1478R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.A4433G:p.Q1478R;ENSG00000101596:ENST00000577880:exon24:c.A2846G:p.Q949R;ENSG00000101596:ENST00000261598:exon35:c.A4433G:p.Q1478R;	0.999982942901415	1.0
18	2760736	A	T	18	2760738	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.A4433T:p.Q1478L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.A4433T:p.Q1478L;ENSG00000101596:ENST00000577880:exon24:c.A2846T:p.Q949L;ENSG00000101596:ENST00000261598:exon35:c.A4433T:p.Q1478L;	0.999978927120111	0.998
18	2760737	G	A	18	2760739	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon35:c.G4434A:p.Q1478Q;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4434A:p.Q1478Q;ENSG00000101596:ENST00000577880:exon24:c.G2847A:p.Q949Q;ENSG00000101596:ENST00000261598:exon35:c.G4434A:p.Q1478Q;	0.999977110586155	1.0
18	2760737	G	C	18	2760739	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.G4434C:p.Q1478H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4434C:p.Q1478H;ENSG00000101596:ENST00000577880:exon24:c.G2847C:p.Q949H;ENSG00000101596:ENST00000261598:exon35:c.G4434C:p.Q1478H;	0.999997690078459	1.0
18	2760737	G	T	18	2760739	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon35:c.G4434T:p.Q1478H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon35:c.G4434T:p.Q1478H;ENSG00000101596:ENST00000577880:exon24:c.G2847T:p.Q949H;ENSG00000101596:ENST00000261598:exon35:c.G4434T:p.Q1478H;	0.999988836628117	1.0
18	2760738	G	A	18	2760740	y	y	splicing	SMCHD1(NM_015295:exon35:c.4434+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4434+1G>A;ENST00000261598:exon35:c.4434+1G>A;ENST00000577880:exon24:c.2847+1G>A;ENST00000584897:exon20:c.2254+1G>A)	.	.	0.999985666489905	0.94
18	2760738	G	C	18	2760740	y	y	splicing	SMCHD1(NM_015295:exon35:c.4434+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4434+1G>C;ENST00000261598:exon35:c.4434+1G>C;ENST00000577880:exon24:c.2847+1G>C;ENST00000584897:exon20:c.2254+1G>C)	.	.	0.999985666489905	0.94
18	2760738	G	T	18	2760740	y	y	splicing	SMCHD1(NM_015295:exon35:c.4434+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4434+1G>T;ENST00000261598:exon35:c.4434+1G>T;ENST00000577880:exon24:c.2847+1G>T;ENST00000584897:exon20:c.2254+1G>T)	.	.	0.999985666489905	0.94
18	2760739	T	A	18	2760741	y	y	splicing	SMCHD1(NM_015295:exon35:c.4434+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4434+2T>A;ENST00000261598:exon35:c.4434+2T>A;ENST00000577880:exon24:c.2847+2T>A;ENST00000584897:exon20:c.2254+2T>A)	.	.	0.999992076683048	0.94
18	2760739	T	C	18	2760741	y	y	splicing	SMCHD1(NM_015295:exon35:c.4434+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4434+2T>C;ENST00000261598:exon35:c.4434+2T>C;ENST00000577880:exon24:c.2847+2T>C;ENST00000584897:exon20:c.2254+2T>C)	.	.	0.999942840226682	0.928
18	2760739	T	G	18	2760741	y	y	splicing	SMCHD1(NM_015295:exon35:c.4434+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon35:c.4434+2T>G;ENST00000261598:exon35:c.4434+2T>G;ENST00000577880:exon24:c.2847+2T>G;ENST00000584897:exon20:c.2254+2T>G)	.	.	0.999992076683048	0.94
18	2760740	T	A	18	2760742	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.77312389928905E-4	0.024
18	2760740	T	C	18	2760742	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.63726382362637E-4	0.17
18	2760740	T	G	18	2760742	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.74129111197601E-4	0.028
18	2760741	T	A	18	2760743	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.91972963673406E-4	0.054
18	2760741	T	C	18	2760743	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00109495668900024	0.11
18	2760741	T	G	18	2760743	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.56784117071092E-4	0.012
18	2760742	G	A	18	2760744	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999926297232648	0.986
18	2760742	G	C	18	2760744	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999986856570833	0.996
18	2760742	G	T	18	2760744	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999977984682731	0.98
18	2760743	C	A	18	2760745	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.18799158130269E-4	0.02
18	2760743	C	G	18	2760745	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.70420427113818E-4	0.262
18	2760743	C	T	18	2760745	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.63977181171335E-4	0.018
18	2760744	T	A	18	2760746	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.36998015164446E-4	0.016
18	2760744	T	C	18	2760746	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.35330752195748E-4	0.014
18	2760744	T	G	18	2760746	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.35330752195748E-4	0.016
18	2760745	T	A	18	2760747	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00237176174189174	0.008
18	2760745	T	C	18	2760747	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00237176174189174	0.004
18	2760745	T	G	18	2760747	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0030974661585434	0.028
18	2762091	T	A	18	2762093	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0255446930795487	0.406
18	2762091	T	C	18	2762093	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.48256719568899E-4	0.026
18	2762091	T	G	18	2762093	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00837173335852983	0.402
18	2762092	T	A	18	2762094	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999894604565435	0.95
18	2762092	T	C	18	2762094	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00713544983930735	0.28
18	2762092	T	G	18	2762094	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.277667823954405	0.472
18	2762093	G	A	18	2762095	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.89063174117618E-5	0.002
18	2762093	G	C	18	2762095	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.09740216807318E-6	0.0
18	2762093	G	T	18	2762095	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.55207986001552E-5	0.004
18	2762094	T	A	18	2762096	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00259199422775207	0.118
18	2762094	T	C	18	2762096	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.21378255361207E-4	0.03
18	2762094	T	G	18	2762096	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00888627422342621	0.11
18	2762095	T	A	18	2762097	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.184655134289141	0.372
18	2762095	T	C	18	2762097	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.34596179219796E-4	0.022
18	2762095	T	G	18	2762097	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.102596729334058	0.34
18	2762096	T	A	18	2762098	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.487157902213302	0.444
18	2762096	T	C	18	2762098	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.99471211760535E-4	0.036
18	2762096	T	G	18	2762098	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0802901465089103	0.346
18	2762097	T	A	18	2762099	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999904334815489	0.936
18	2762097	T	C	18	2762099	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.03712507816745E-4	0.08
18	2762097	T	G	18	2762099	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.458053645289997	0.418
18	2762098	G	A	18	2762100	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.10124980498575E-4	0.022
18	2762098	G	C	18	2762100	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.73351921515326E-5	0.062
18	2762098	G	T	18	2762100	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.64450317470201E-5	0.074
18	2762099	T	A	18	2762101	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.13298367648636E-5	0.0
18	2762099	T	C	18	2762101	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.79749034397777E-5	0.034
18	2762099	T	G	18	2762101	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.04909843949755E-4	0.06
18	2762100	A	C	18	2762102	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.00251438967202E-4	0.106
18	2762100	A	G	18	2762102	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.128465845576664	0.424
18	2762100	A	T	18	2762102	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.53127290726085E-5	0.006
18	2762101	A	C	18	2762103	y	y	splicing	SMCHD1(NM_015295:exon36:c.4435-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4435-2A>C;ENST00000261598:exon36:c.4435-2A>C;ENST00000577880:exon25:c.2848-2A>C;ENST00000584897:exon21:c.2255-2A>C)	.	.	0.999970104448312	0.894
18	2762101	A	G	18	2762103	y	y	splicing	SMCHD1(NM_015295:exon36:c.4435-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4435-2A>G;ENST00000261598:exon36:c.4435-2A>G;ENST00000577880:exon25:c.2848-2A>G;ENST00000584897:exon21:c.2255-2A>G)	.	.	0.999982151912279	0.892
18	2762101	A	T	18	2762103	y	y	splicing	SMCHD1(NM_015295:exon36:c.4435-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4435-2A>T;ENST00000261598:exon36:c.4435-2A>T;ENST00000577880:exon25:c.2848-2A>T;ENST00000584897:exon21:c.2255-2A>T)	.	.	0.999978156327223	0.928
18	2762102	G	A	18	2762104	y	y	splicing	SMCHD1(NM_015295:exon36:c.4435-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4435-1G>A;ENST00000261598:exon36:c.4435-1G>A;ENST00000577880:exon25:c.2848-1G>A;ENST00000584897:exon21:c.2255-1G>A)	.	.	0.999916487880886	0.95
18	2762102	G	C	18	2762104	y	y	splicing	SMCHD1(NM_015295:exon36:c.4435-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4435-1G>C;ENST00000261598:exon36:c.4435-1G>C;ENST00000577880:exon25:c.2848-1G>C;ENST00000584897:exon21:c.2255-1G>C)	.	.	0.999945520654368	0.948
18	2762102	G	T	18	2762104	y	y	splicing	SMCHD1(NM_015295:exon36:c.4435-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4435-1G>T;ENST00000261598:exon36:c.4435-1G>T;ENST00000577880:exon25:c.2848-1G>T;ENST00000584897:exon21:c.2255-1G>T)	.	.	0.999945520654368	0.948
18	2762103	G	A	18	2762105	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.G4435A:p.V1479I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.G4435A:p.V1479I;ENSG00000101596:ENST00000577880:exon25:c.G2848A:p.V950I;ENSG00000101596:ENST00000261598:exon36:c.G4435A:p.V1479I;	8.01821777267327E-4	0.072
18	2762103	G	C	18	2762105	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.G4435C:p.V1479L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.G4435C:p.V1479L;ENSG00000101596:ENST00000577880:exon25:c.G2848C:p.V950L;ENSG00000101596:ENST00000261598:exon36:c.G4435C:p.V1479L;	0.0333891400092835	0.344
18	2762103	G	T	18	2762105	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.G4435T:p.V1479F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.G4435T:p.V1479F;ENSG00000101596:ENST00000577880:exon25:c.G2848T:p.V950F;ENSG00000101596:ENST00000261598:exon36:c.G4435T:p.V1479F;	0.0712505146389042	0.272
18	2762104	T	A	18	2762106	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.T4436A:p.V1479D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.T4436A:p.V1479D;ENSG00000101596:ENST00000577880:exon25:c.T2849A:p.V950D;ENSG00000101596:ENST00000261598:exon36:c.T4436A:p.V1479D;	0.406127922298773	0.364
18	2762104	T	C	18	2762106	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.T4436C:p.V1479A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.T4436C:p.V1479A;ENSG00000101596:ENST00000577880:exon25:c.T2849C:p.V950A;ENSG00000101596:ENST00000261598:exon36:c.T4436C:p.V1479A;	0.122056011114682	0.26
18	2762104	T	G	18	2762106	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.T4436G:p.V1479G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.T4436G:p.V1479G;ENSG00000101596:ENST00000577880:exon25:c.T2849G:p.V950G;ENSG00000101596:ENST00000261598:exon36:c.T4436G:p.V1479G;	0.170896071024661	0.29
18	2762232	A	C	18	2762234	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.A4564C:p.T1522P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.A4564C:p.T1522P;ENSG00000101596:ENST00000577880:exon25:c.A2977C:p.T993P;ENSG00000101596:ENST00000261598:exon36:c.A4564C:p.T1522P;	0.00267853094767982	0.036
18	2762232	A	G	18	2762234	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.A4564G:p.T1522A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.A4564G:p.T1522A;ENSG00000101596:ENST00000577880:exon25:c.A2977G:p.T993A;ENSG00000101596:ENST00000261598:exon36:c.A4564G:p.T1522A;	0.00509372351495718	0.132
18	2762232	A	T	18	2762234	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.A4564T:p.T1522S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.A4564T:p.T1522S;ENSG00000101596:ENST00000577880:exon25:c.A2977T:p.T993S;ENSG00000101596:ENST00000261598:exon36:c.A4564T:p.T1522S;	0.204774381078609	0.418
18	2762233	C	A	18	2762235	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.C4565A:p.T1522K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.C4565A:p.T1522K;ENSG00000101596:ENST00000577880:exon25:c.C2978A:p.T993K;ENSG00000101596:ENST00000261598:exon36:c.C4565A:p.T1522K;	1.86788561234681E-4	0.152
18	2762233	C	G	18	2762235	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.C4565G:p.T1522R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.C4565G:p.T1522R;ENSG00000101596:ENST00000577880:exon25:c.C2978G:p.T993R;ENSG00000101596:ENST00000261598:exon36:c.C4565G:p.T1522R;	0.00102444135105926	0.086
18	2762233	C	T	18	2762235	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon36:c.C4565T:p.T1522M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.C4565T:p.T1522M;ENSG00000101596:ENST00000577880:exon25:c.C2978T:p.T993M;ENSG00000101596:ENST00000261598:exon36:c.C4565T:p.T1522M;	0.00130817522457123	0.144
18	2762234	G	A	18	2762236	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon36:c.G4566A:p.T1522T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.G4566A:p.T1522T;ENSG00000101596:ENST00000577880:exon25:c.G2979A:p.T993T;ENSG00000101596:ENST00000261598:exon36:c.G4566A:p.T1522T;	0.999985403451244	0.998
18	2762234	G	C	18	2762236	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon36:c.G4566C:p.T1522T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.G4566C:p.T1522T;ENSG00000101596:ENST00000577880:exon25:c.G2979C:p.T993T;ENSG00000101596:ENST00000261598:exon36:c.G4566C:p.T1522T;	0.999991444594786	0.974
18	2762234	G	T	18	2762236	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon36:c.G4566T:p.T1522T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon36:c.G4566T:p.T1522T;ENSG00000101596:ENST00000577880:exon25:c.G2979T:p.T993T;ENSG00000101596:ENST00000261598:exon36:c.G4566T:p.T1522T;	0.999976165959793	0.958
18	2762235	G	A	18	2762237	y	y	splicing	SMCHD1(NM_015295:exon36:c.4566+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4566+1G>A;ENST00000261598:exon36:c.4566+1G>A;ENST00000577880:exon25:c.2979+1G>A;ENST00000584897:exon21:c.2386+1G>A)	.	.	0.999933757597683	0.954
18	2762235	G	C	18	2762237	y	y	splicing	SMCHD1(NM_015295:exon36:c.4566+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4566+1G>C;ENST00000261598:exon36:c.4566+1G>C;ENST00000577880:exon25:c.2979+1G>C;ENST00000584897:exon21:c.2386+1G>C)	.	.	0.999933757597683	0.952
18	2762235	G	T	18	2762237	y	y	splicing	SMCHD1(NM_015295:exon36:c.4566+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4566+1G>T;ENST00000261598:exon36:c.4566+1G>T;ENST00000577880:exon25:c.2979+1G>T;ENST00000584897:exon21:c.2386+1G>T)	.	.	0.999933757597683	0.952
18	2762236	T	A	18	2762238	y	y	splicing	SMCHD1(NM_015295:exon36:c.4566+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4566+2T>A;ENST00000261598:exon36:c.4566+2T>A;ENST00000577880:exon25:c.2979+2T>A;ENST00000584897:exon21:c.2386+2T>A)	.	.	0.999963671976247	0.95
18	2762236	T	C	18	2762238	y	y	splicing	SMCHD1(NM_015295:exon36:c.4566+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4566+2T>C;ENST00000261598:exon36:c.4566+2T>C;ENST00000577880:exon25:c.2979+2T>C;ENST00000584897:exon21:c.2386+2T>C)	.	.	0.999724251656727	0.832
18	2762236	T	G	18	2762238	y	y	splicing	SMCHD1(NM_015295:exon36:c.4566+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon36:c.4566+2T>G;ENST00000261598:exon36:c.4566+2T>G;ENST00000577880:exon25:c.2979+2T>G;ENST00000584897:exon21:c.2386+2T>G)	.	.	0.999971317418422	0.916
18	2762237	A	C	18	2762239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999804449135876	0.874
18	2762237	A	G	18	2762239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.995989411154235	0.698
18	2762237	A	T	18	2762239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999804449135876	0.932
18	2762238	A	C	18	2762240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.636496519743717	0.534
18	2762238	A	G	18	2762240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.975729766932172	0.786
18	2762238	A	T	18	2762240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.680632885605458	0.612
18	2762239	T	A	18	2762241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00165033354547619	0.03
18	2762239	T	C	18	2762241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.08703165500012E-4	0.072
18	2762239	T	G	18	2762241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.80847011057963E-4	0.098
18	2762240	G	A	18	2762242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.08030934241131E-4	0.004
18	2762240	G	C	18	2762242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00161398180296719	0.1
18	2762240	G	T	18	2762242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.35800614939071E-4	0.03
18	2762241	T	A	18	2762243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.99702868454016E-4	0.006
18	2762241	T	C	18	2762243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.09881495636289E-4	0.004
18	2762241	T	G	18	2762243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.53131868609451E-4	0.002
18	2762242	T	A	18	2762244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.74359842730815E-4	0.0
18	2762242	T	C	18	2762244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.29707904822047E-4	0.006
18	2762242	T	G	18	2762244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.3476471713342E-4	0.006
18	2763623	T	A	18	2763625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.05635236831992E-4	0.01
18	2763623	T	C	18	2763625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.02301715613715E-5	0.0
18	2763623	T	G	18	2763625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.79973581598404E-4	0.018
18	2763624	T	A	18	2763626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00142923671257317	0.152
18	2763624	T	C	18	2763626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.21148176908911E-5	0.012
18	2763624	T	G	18	2763626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.42407551107176E-5	0.088
18	2763625	T	A	18	2763627	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.78282380934099E-4	0.124
18	2763625	T	C	18	2763627	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.32026760339054E-5	0.072
18	2763625	T	G	18	2763627	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.04843446780079E-4	0.186
18	2763626	T	A	18	2763628	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998972846711608	0.972
18	2763626	T	C	18	2763628	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.44102047843578E-4	0.028
18	2763626	T	G	18	2763628	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.80540240591987E-4	0.126
18	2763627	G	A	18	2763629	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.77457243820827E-5	0.0
18	2763627	G	C	18	2763629	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.05639083970454E-6	0.006
18	2763627	G	T	18	2763629	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.05639083970454E-6	0.012
18	2763628	T	A	18	2763630	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.96429701085402E-4	0.072
18	2763628	T	C	18	2763630	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.62136697123524E-5	0.024
18	2763628	T	G	18	2763630	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.02739880040336E-4	0.062
18	2763629	T	A	18	2763631	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00302974051868298	0.166
18	2763629	T	C	18	2763631	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.91983774002484E-5	0.01
18	2763629	T	G	18	2763631	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00177586912418976	0.184
18	2763630	T	A	18	2763632	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.2372813887985E-4	0.228
18	2763630	T	C	18	2763632	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.97276960567454E-4	0.058
18	2763630	T	G	18	2763632	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00119078990407644	0.272
18	2763631	T	A	18	2763633	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.12083675533222E-4	0.068
18	2763631	T	C	18	2763633	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.13352280830028E-5	0.004
18	2763631	T	G	18	2763633	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.00061961929072E-4	0.006
18	2763632	A	C	18	2763634	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.02735951290369E-4	0.138
18	2763632	A	G	18	2763634	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00847517962423467	0.208
18	2763632	A	T	18	2763634	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.10581919137723E-4	0.0
18	2763633	A	C	18	2763635	y	y	splicing	SMCHD1(NM_015295:exon37:c.4567-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4567-2A>C;ENST00000261598:exon37:c.4567-2A>C;ENST00000577880:exon26:c.2980-2A>C;ENST00000584897:exon22:c.2387-2A>C)	.	.	0.999962958601995	0.842
18	2763633	A	G	18	2763635	y	y	splicing	SMCHD1(NM_015295:exon37:c.4567-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4567-2A>G;ENST00000261598:exon37:c.4567-2A>G;ENST00000577880:exon26:c.2980-2A>G;ENST00000584897:exon22:c.2387-2A>G)	.	.	0.999962958601995	0.84
18	2763633	A	T	18	2763635	y	y	splicing	SMCHD1(NM_015295:exon37:c.4567-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4567-2A>T;ENST00000261598:exon37:c.4567-2A>T;ENST00000577880:exon26:c.2980-2A>T;ENST00000584897:exon22:c.2387-2A>T)	.	.	0.999969255906173	0.86
18	2763634	G	A	18	2763636	y	y	splicing	SMCHD1(NM_015295:exon37:c.4567-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4567-1G>A;ENST00000261598:exon37:c.4567-1G>A;ENST00000577880:exon26:c.2980-1G>A;ENST00000584897:exon22:c.2387-1G>A)	.	.	0.999965143305126	0.872
18	2763634	G	C	18	2763636	y	y	splicing	SMCHD1(NM_015295:exon37:c.4567-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4567-1G>C;ENST00000261598:exon37:c.4567-1G>C;ENST00000577880:exon26:c.2980-1G>C;ENST00000584897:exon22:c.2387-1G>C)	.	.	0.999965143305126	0.866
18	2763634	G	T	18	2763636	y	y	splicing	SMCHD1(NM_015295:exon37:c.4567-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4567-1G>T;ENST00000261598:exon37:c.4567-1G>T;ENST00000577880:exon26:c.2980-1G>T;ENST00000584897:exon22:c.2387-1G>T)	.	.	0.999965143305126	0.868
18	2763635	G	A	18	2763637	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.G4567A:p.D1523N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.G4567A:p.D1523N;ENSG00000101596:ENST00000577880:exon26:c.G2980A:p.D994N;ENSG00000101596:ENST00000261598:exon37:c.G4567A:p.D1523N;	0.319386857088343	0.426
18	2763635	G	C	18	2763637	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.G4567C:p.D1523H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.G4567C:p.D1523H;ENSG00000101596:ENST00000577880:exon26:c.G2980C:p.D994H;ENSG00000101596:ENST00000261598:exon37:c.G4567C:p.D1523H;	0.893077966288791	0.71
18	2763635	G	T	18	2763637	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.G4567T:p.D1523Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.G4567T:p.D1523Y;ENSG00000101596:ENST00000577880:exon26:c.G2980T:p.D994Y;ENSG00000101596:ENST00000261598:exon37:c.G4567T:p.D1523Y;	0.926313899736859	0.82
18	2763636	A	C	18	2763638	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.A4568C:p.D1523A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.A4568C:p.D1523A;ENSG00000101596:ENST00000577880:exon26:c.A2981C:p.D994A;ENSG00000101596:ENST00000261598:exon37:c.A4568C:p.D1523A;	0.246572977661529	0.538
18	2763636	A	G	18	2763638	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.A4568G:p.D1523G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.A4568G:p.D1523G;ENSG00000101596:ENST00000577880:exon26:c.A2981G:p.D994G;ENSG00000101596:ENST00000261598:exon37:c.A4568G:p.D1523G;	0.201863410815394	0.456
18	2763636	A	T	18	2763638	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.A4568T:p.D1523V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.A4568T:p.D1523V;ENSG00000101596:ENST00000577880:exon26:c.A2981T:p.D994V;ENSG00000101596:ENST00000261598:exon37:c.A4568T:p.D1523V;	0.0656417231726328	0.418
18	2763785	A	C	18	2763787	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.A4717C:p.M1573L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.A4717C:p.M1573L;ENSG00000101596:ENST00000577880:exon26:c.A3130C:p.M1044L;ENSG00000101596:ENST00000261598:exon37:c.A4717C:p.M1573L;	1.01846093568104E-4	0.086
18	2763785	A	G	18	2763787	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.A4717G:p.M1573V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.A4717G:p.M1573V;ENSG00000101596:ENST00000577880:exon26:c.A3130G:p.M1044V;ENSG00000101596:ENST00000261598:exon37:c.A4717G:p.M1573V;	3.38320075626559E-4	0.132
18	2763785	A	T	18	2763787	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.A4717T:p.M1573L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.A4717T:p.M1573L;ENSG00000101596:ENST00000577880:exon26:c.A3130T:p.M1044L;ENSG00000101596:ENST00000261598:exon37:c.A4717T:p.M1573L;	0.00342293308385995	0.186
18	2763786	T	A	18	2763788	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.T4718A:p.M1573K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.T4718A:p.M1573K;ENSG00000101596:ENST00000577880:exon26:c.T3131A:p.M1044K;ENSG00000101596:ENST00000261598:exon37:c.T4718A:p.M1573K;	5.84659814372233E-5	0.11
18	2763786	T	C	18	2763788	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.T4718C:p.M1573T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.T4718C:p.M1573T;ENSG00000101596:ENST00000577880:exon26:c.T3131C:p.M1044T;ENSG00000101596:ENST00000261598:exon37:c.T4718C:p.M1573T;	3.80250547860307E-5	0.092
18	2763786	T	G	18	2763788	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.T4718G:p.M1573R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.T4718G:p.M1573R;ENSG00000101596:ENST00000577880:exon26:c.T3131G:p.M1044R;ENSG00000101596:ENST00000261598:exon37:c.T4718G:p.M1573R;	2.78980459477975E-4	0.156
18	2763787	G	A	18	2763789	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.G4719A:p.M1573I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.G4719A:p.M1573I;ENSG00000101596:ENST00000577880:exon26:c.G3132A:p.M1044I;ENSG00000101596:ENST00000261598:exon37:c.G4719A:p.M1573I;	0.999977120929677	0.978
18	2763787	G	C	18	2763789	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.G4719C:p.M1573I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.G4719C:p.M1573I;ENSG00000101596:ENST00000577880:exon26:c.G3132C:p.M1044I;ENSG00000101596:ENST00000261598:exon37:c.G4719C:p.M1573I;	0.999984203635345	0.964
18	2763787	G	T	18	2763789	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon37:c.G4719T:p.M1573I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon37:c.G4719T:p.M1573I;ENSG00000101596:ENST00000577880:exon26:c.G3132T:p.M1044I;ENSG00000101596:ENST00000261598:exon37:c.G4719T:p.M1573I;	0.999963297756955	0.966
18	2763788	G	A	18	2763790	y	y	splicing	SMCHD1(NM_015295:exon37:c.4719+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4719+1G>A;ENST00000261598:exon37:c.4719+1G>A;ENST00000577880:exon26:c.3132+1G>A;ENST00000584897:exon22:c.2539+1G>A)	.	.	0.999987958061382	0.766
18	2763788	G	C	18	2763790	y	y	splicing	SMCHD1(NM_015295:exon37:c.4719+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4719+1G>C;ENST00000261598:exon37:c.4719+1G>C;ENST00000577880:exon26:c.3132+1G>C;ENST00000584897:exon22:c.2539+1G>C)	.	.	0.999987958061382	0.768
18	2763788	G	T	18	2763790	y	y	splicing	SMCHD1(NM_015295:exon37:c.4719+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4719+1G>T;ENST00000261598:exon37:c.4719+1G>T;ENST00000577880:exon26:c.3132+1G>T;ENST00000584897:exon22:c.2539+1G>T)	.	.	0.999987958061382	0.768
18	2763789	T	A	18	2763791	y	y	splicing	SMCHD1(NM_015295:exon37:c.4719+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4719+2T>A;ENST00000261598:exon37:c.4719+2T>A;ENST00000577880:exon26:c.3132+2T>A;ENST00000584897:exon22:c.2539+2T>A)	.	.	0.999962958601995	0.798
18	2763789	T	C	18	2763791	y	y	splicing	SMCHD1(NM_015295:exon37:c.4719+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4719+2T>C;ENST00000261598:exon37:c.4719+2T>C;ENST00000577880:exon26:c.3132+2T>C;ENST00000584897:exon22:c.2539+2T>C)	.	.	0.863384562718446	0.53
18	2763789	T	G	18	2763791	y	y	splicing	SMCHD1(NM_015295:exon37:c.4719+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon37:c.4719+2T>G;ENST00000261598:exon37:c.4719+2T>G;ENST00000577880:exon26:c.3132+2T>G;ENST00000584897:exon22:c.2539+2T>G)	.	.	0.999980255680118	0.786
18	2763790	A	C	18	2763792	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999575719609266	0.848
18	2763790	A	G	18	2763792	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.992841807701015	0.618
18	2763790	A	T	18	2763792	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999575719609266	0.846
18	2763791	A	C	18	2763793	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.736529014510908	0.576
18	2763791	A	G	18	2763793	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.940938218849543	0.744
18	2763791	A	T	18	2763793	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.929300037863266	0.686
18	2763792	A	C	18	2763794	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00117003796599511	0.122
18	2763792	A	G	18	2763794	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.61207364952757E-4	0.118
18	2763792	A	T	18	2763794	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.7437758034393E-4	0.134
18	2763793	T	A	18	2763795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00747184830710302	0.288
18	2763793	T	C	18	2763795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0282527868313767	0.384
18	2763793	T	G	18	2763795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.67183900879103E-4	0.222
18	2763794	T	A	18	2763796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.16905135590154E-6	0.026
18	2763794	T	C	18	2763796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.16905135590154E-6	0.026
18	2763794	T	G	18	2763796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.5816833142796E-6	0.024
18	2763795	T	A	18	2763797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.74008533157568E-5	0.01
18	2763795	T	C	18	2763797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.18703775061176E-5	0.008
18	2763795	T	G	18	2763797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.63443629918326E-4	0.062
18	2769680	T	A	18	2769682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.139087163925733	0.416
18	2769680	T	C	18	2769682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.96455616503128E-4	0.094
18	2769680	T	G	18	2769682	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0134016154074962	0.254
18	2769681	T	A	18	2769683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.895838084566132	0.63
18	2769681	T	C	18	2769683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00445298951099333	0.174
18	2769681	T	G	18	2769683	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.819438080219396	0.592
18	2769682	A	C	18	2769684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.39346560695863E-5	0.002
18	2769682	A	G	18	2769684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.31842604414959E-5	0.0
18	2769682	A	T	18	2769684	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.39346560695863E-5	0.002
18	2769683	T	A	18	2769685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.024543560886844	0.322
18	2769683	T	C	18	2769685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.63722737701085E-4	0.108
18	2769683	T	G	18	2769685	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999956553218612	0.984
18	2769684	A	C	18	2769686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.75504706950812E-6	0.0
18	2769684	A	G	18	2769686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.28112547081086E-5	0.004
18	2769684	A	T	18	2769686	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.29245534957562E-6	0.0
18	2769685	T	A	18	2769687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999878351349201	0.998
18	2769685	T	C	18	2769687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00103010028689013	0.052
18	2769685	T	G	18	2769687	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999912226182525	0.996
18	2769686	G	A	18	2769688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.32885604205437E-5	0.002
18	2769686	G	C	18	2769688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.60283418007628E-5	0.008
18	2769686	G	T	18	2769688	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.60283418007628E-5	0.006
18	2769687	T	A	18	2769689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0899036494281348	0.522
18	2769687	T	C	18	2769689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.89333972942586E-4	0.146
18	2769687	T	G	18	2769689	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0486887428484026	0.454
18	2769688	A	C	18	2769690	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.40069105431292E-4	0.062
18	2769688	A	G	18	2769690	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71109949519538E-4	0.06
18	2769688	A	T	18	2769690	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.38411348868192E-4	0.07
18	2769689	C	A	18	2769691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.968962412161795	0.768
18	2769689	C	G	18	2769691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996553825742975	0.784
18	2769689	C	T	18	2769691	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.624592820574E-4	0.1
18	2769690	A	C	18	2769692	y	y	splicing	SMCHD1(NM_015295:exon38:c.4720-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4720-2A>C;ENST00000261598:exon38:c.4720-2A>C;ENST00000577880:exon27:c.3133-2A>C;ENST00000584897:exon23:c.2540-2A>C)	.	.	0.99993928974862	0.958
18	2769690	A	G	18	2769692	y	y	splicing	SMCHD1(NM_015295:exon38:c.4720-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4720-2A>G;ENST00000261598:exon38:c.4720-2A>G;ENST00000577880:exon27:c.3133-2A>G;ENST00000584897:exon23:c.2540-2A>G)	.	.	0.99993928974862	0.958
18	2769690	A	T	18	2769692	y	y	splicing	SMCHD1(NM_015295:exon38:c.4720-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4720-2A>T;ENST00000261598:exon38:c.4720-2A>T;ENST00000577880:exon27:c.3133-2A>T;ENST00000584897:exon23:c.2540-2A>T)	.	.	0.99993872479901	0.952
18	2769691	G	A	18	2769693	y	y	splicing	SMCHD1(NM_015295:exon38:c.4720-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4720-1G>A;ENST00000261598:exon38:c.4720-1G>A;ENST00000577880:exon27:c.3133-1G>A;ENST00000584897:exon23:c.2540-1G>A)	.	.	0.999930528371628	0.928
18	2769691	G	C	18	2769693	y	y	splicing	SMCHD1(NM_015295:exon38:c.4720-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4720-1G>C;ENST00000261598:exon38:c.4720-1G>C;ENST00000577880:exon27:c.3133-1G>C;ENST00000584897:exon23:c.2540-1G>C)	.	.	0.999930528371628	0.926
18	2769691	G	T	18	2769693	y	y	splicing	SMCHD1(NM_015295:exon38:c.4720-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4720-1G>T;ENST00000261598:exon38:c.4720-1G>T;ENST00000577880:exon27:c.3133-1G>T;ENST00000584897:exon23:c.2540-1G>T)	.	.	0.999930528371628	0.926
18	2769692	A	C	18	2769694	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.A4720C:p.S1574R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.A4720C:p.S1574R;ENSG00000101596:ENST00000577880:exon27:c.A3133C:p.S1045R;ENSG00000101596:ENST00000261598:exon38:c.A4720C:p.S1574R;	0.00244558045013264	0.164
18	2769692	A	G	18	2769694	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.A4720G:p.S1574G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.A4720G:p.S1574G;ENSG00000101596:ENST00000577880:exon27:c.A3133G:p.S1045G;ENSG00000101596:ENST00000261598:exon38:c.A4720G:p.S1574G;	4.26381581610571E-4	0.018
18	2769692	A	T	18	2769694	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.A4720T:p.S1574C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.A4720T:p.S1574C;ENSG00000101596:ENST00000577880:exon27:c.A3133T:p.S1045C;ENSG00000101596:ENST00000261598:exon38:c.A4720T:p.S1574C;	0.0622658847026229	0.194
18	2769693	G	A	18	2769695	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.G4721A:p.S1574N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.G4721A:p.S1574N;ENSG00000101596:ENST00000577880:exon27:c.G3134A:p.S1045N;ENSG00000101596:ENST00000261598:exon38:c.G4721A:p.S1574N;	3.55849697347145E-5	0.0
18	2769693	G	C	18	2769695	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.G4721C:p.S1574T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.G4721C:p.S1574T;ENSG00000101596:ENST00000577880:exon27:c.G3134C:p.S1045T;ENSG00000101596:ENST00000261598:exon38:c.G4721C:p.S1574T;	5.65656298383079E-5	0.0
18	2769693	G	T	18	2769695	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.G4721T:p.S1574I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.G4721T:p.S1574I;ENSG00000101596:ENST00000577880:exon27:c.G3134T:p.S1045I;ENSG00000101596:ENST00000261598:exon38:c.G4721T:p.S1574I;	9.71114959707179E-5	0.006
18	2769816	A	C	18	2769818	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.A4844C:p.N1615T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.A4844C:p.N1615T;ENSG00000101596:ENST00000577880:exon27:c.A3257C:p.N1086T;ENSG00000101596:ENST00000261598:exon38:c.A4844C:p.N1615T;	0.551443425026477	0.436
18	2769816	A	G	18	2769818	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.A4844G:p.N1615S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.A4844G:p.N1615S;ENSG00000101596:ENST00000577880:exon27:c.A3257G:p.N1086S;ENSG00000101596:ENST00000261598:exon38:c.A4844G:p.N1615S;	0.209722667360924	0.312
18	2769816	A	T	18	2769818	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.A4844T:p.N1615I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.A4844T:p.N1615I;ENSG00000101596:ENST00000577880:exon27:c.A3257T:p.N1086I;ENSG00000101596:ENST00000261598:exon38:c.A4844T:p.N1615I;	0.860484896805328	0.428
18	2769817	T	A	18	2769819	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.T4845A:p.N1615K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.T4845A:p.N1615K;ENSG00000101596:ENST00000577880:exon27:c.T3258A:p.N1086K;ENSG00000101596:ENST00000261598:exon38:c.T4845A:p.N1615K;	6.93106785142361E-4	0.316
18	2769817	T	C	18	2769819	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon38:c.T4845C:p.N1615N;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.T4845C:p.N1615N;ENSG00000101596:ENST00000577880:exon27:c.T3258C:p.N1086N;ENSG00000101596:ENST00000261598:exon38:c.T4845C:p.N1615N;	5.10891949913966E-4	0.014
18	2769817	T	G	18	2769819	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.T4845G:p.N1615K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.T4845G:p.N1615K;ENSG00000101596:ENST00000577880:exon27:c.T3258G:p.N1086K;ENSG00000101596:ENST00000261598:exon38:c.T4845G:p.N1615K;	8.51553557506357E-4	0.182
18	2769818	G	A	18	2769820	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.G4846A:p.D1616N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.G4846A:p.D1616N;ENSG00000101596:ENST00000577880:exon27:c.G3259A:p.D1087N;ENSG00000101596:ENST00000261598:exon38:c.G4846A:p.D1616N;	0.99974059188545	0.952
18	2769818	G	C	18	2769820	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.G4846C:p.D1616H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.G4846C:p.D1616H;ENSG00000101596:ENST00000577880:exon27:c.G3259C:p.D1087H;ENSG00000101596:ENST00000261598:exon38:c.G4846C:p.D1616H;	0.999663881656448	0.94
18	2769818	G	T	18	2769820	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon38:c.G4846T:p.D1616Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon38:c.G4846T:p.D1616Y;ENSG00000101596:ENST00000577880:exon27:c.G3259T:p.D1087Y;ENSG00000101596:ENST00000261598:exon38:c.G4846T:p.D1616Y;	0.999666879837408	0.988
18	2769819	G	A	18	2769821	y	y	splicing	SMCHD1(NM_015295:exon38:c.4846+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4846+1G>A;ENST00000261598:exon38:c.4846+1G>A;ENST00000577880:exon27:c.3259+1G>A;ENST00000584897:exon23:c.2666+1G>A)	.	.	0.999986675681007	0.934
18	2769819	G	C	18	2769821	y	y	splicing	SMCHD1(NM_015295:exon38:c.4846+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4846+1G>C;ENST00000261598:exon38:c.4846+1G>C;ENST00000577880:exon27:c.3259+1G>C;ENST00000584897:exon23:c.2666+1G>C)	.	.	0.999986675681007	0.932
18	2769819	G	T	18	2769821	y	y	splicing	SMCHD1(NM_015295:exon38:c.4846+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4846+1G>T;ENST00000261598:exon38:c.4846+1G>T;ENST00000577880:exon27:c.3259+1G>T;ENST00000584897:exon23:c.2666+1G>T)	.	.	0.999986675681007	0.934
18	2769820	T	A	18	2769822	y	y	splicing	SMCHD1(NM_015295:exon38:c.4846+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4846+2T>A;ENST00000261598:exon38:c.4846+2T>A;ENST00000577880:exon27:c.3259+2T>A;ENST00000584897:exon23:c.2666+2T>A)	.	.	0.999988247793601	0.928
18	2769820	T	C	18	2769822	y	y	splicing	SMCHD1(NM_015295:exon38:c.4846+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4846+2T>C;ENST00000261598:exon38:c.4846+2T>C;ENST00000577880:exon27:c.3259+2T>C;ENST00000584897:exon23:c.2666+2T>C)	.	.	0.986973409415639	0.622
18	2769820	T	G	18	2769822	y	y	splicing	SMCHD1(NM_015295:exon38:c.4846+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon38:c.4846+2T>G;ENST00000261598:exon38:c.4846+2T>G;ENST00000577880:exon27:c.3259+2T>G;ENST00000584897:exon23:c.2666+2T>G)	.	.	0.999988247793601	0.926
18	2769821	A	C	18	2769823	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.974398848296935	0.72
18	2769821	A	G	18	2769823	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0137638142878415	0.12
18	2769821	A	T	18	2769823	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.783179772395707	0.654
18	2769822	A	C	18	2769824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.196551364181342	0.286
18	2769822	A	G	18	2769824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.545863750560888	0.4
18	2769822	A	T	18	2769824	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.575352099957917	0.336
18	2769823	G	A	18	2769825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998631407838949	0.904
18	2769823	G	C	18	2769825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.995068755513599	0.91
18	2769823	G	T	18	2769825	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996526281485901	0.882
18	2769824	T	A	18	2769826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00714791021953587	0.172
18	2769824	T	C	18	2769826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0324823934395611	0.14
18	2769824	T	G	18	2769826	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00338703766475829	0.126
18	2769825	T	A	18	2769827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.22406235342838E-4	0.016
18	2769825	T	C	18	2769827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.28166965868769E-4	0.004
18	2769825	T	G	18	2769827	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.3510010414419E-5	0.0
18	2769826	T	A	18	2769828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.005627690349563	0.02
18	2769826	T	C	18	2769828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00649551328494723	0.026
18	2769826	T	G	18	2769828	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00649551328494723	0.036
18	2769975	T	A	18	2769977	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.73602471626386E-5	0.09
18	2769975	T	C	18	2769977	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.35925814871497E-5	0.004
18	2769975	T	G	18	2769977	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.00934536475499E-5	0.106
18	2769976	T	A	18	2769978	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00113363260055561	0.258
18	2769976	T	C	18	2769978	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.00288319408117E-4	0.042
18	2769976	T	G	18	2769978	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.2577489741911E-4	0.142
18	2769977	T	A	18	2769979	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.54997740979976E-4	0.114
18	2769977	T	C	18	2769979	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.9334184181047E-4	0.018
18	2769977	T	G	18	2769979	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.8218711514558E-4	0.164
18	2769978	T	A	18	2769980	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.17458182191438E-4	0.2
18	2769978	T	C	18	2769980	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.76098980438259E-5	0.026
18	2769978	T	G	18	2769980	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.81005815882169E-5	0.212
18	2769979	T	A	18	2769981	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00183527577666782	0.114
18	2769979	T	C	18	2769981	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.97747432446816E-4	0.044
18	2769979	T	G	18	2769981	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.02313413045136E-4	0.092
18	2769980	T	A	18	2769982	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.41961601775689E-5	0.022
18	2769980	T	C	18	2769982	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.10049121694966E-5	0.0
18	2769980	T	G	18	2769982	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.88276976596086E-5	0.016
18	2769981	T	A	18	2769983	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.49296222510374E-4	0.084
18	2769981	T	C	18	2769983	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.37172936341392E-5	0.0
18	2769981	T	G	18	2769983	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.75620099837685E-4	0.082
18	2769982	C	A	18	2769984	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.83980288369559E-4	0.07
18	2769982	C	G	18	2769984	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00240358481496207	0.118
18	2769982	C	T	18	2769984	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.63975470227994E-4	0.052
18	2769983	T	A	18	2769985	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.58959902335551E-5	0.0
18	2769983	T	C	18	2769985	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.57129340714113E-5	0.006
18	2769983	T	G	18	2769985	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.25211152755068E-5	0.0
18	2769984	T	A	18	2769986	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00123289183459078	0.112
18	2769984	T	C	18	2769986	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.69641160534914E-4	0.034
18	2769984	T	G	18	2769986	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.988006970333678	0.56
18	2769985	A	C	18	2769987	y	y	splicing	SMCHD1(NM_015295:exon39:c.4847-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4847-2A>C;ENST00000261598:exon39:c.4847-2A>C;ENST00000577880:exon28:c.3260-2A>C;ENST00000584897:exon24:c.2667-2A>C)	.	.	0.999978952611685	0.928
18	2769985	A	G	18	2769987	y	y	splicing	SMCHD1(NM_015295:exon39:c.4847-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4847-2A>G;ENST00000261598:exon39:c.4847-2A>G;ENST00000577880:exon28:c.3260-2A>G;ENST00000584897:exon24:c.2667-2A>G)	.	.	0.999978952611685	0.928
18	2769985	A	T	18	2769987	y	y	splicing	SMCHD1(NM_015295:exon39:c.4847-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4847-2A>T;ENST00000261598:exon39:c.4847-2A>T;ENST00000577880:exon28:c.3260-2A>T;ENST00000584897:exon24:c.2667-2A>T)	.	.	0.999978952611685	0.926
18	2769986	G	A	18	2769988	y	y	splicing	SMCHD1(NM_015295:exon39:c.4847-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4847-1G>A;ENST00000261598:exon39:c.4847-1G>A;ENST00000577880:exon28:c.3260-1G>A;ENST00000584897:exon24:c.2667-1G>A)	.	.	0.999990361384395	0.934
18	2769986	G	C	18	2769988	y	y	splicing	SMCHD1(NM_015295:exon39:c.4847-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4847-1G>C;ENST00000261598:exon39:c.4847-1G>C;ENST00000577880:exon28:c.3260-1G>C;ENST00000584897:exon24:c.2667-1G>C)	.	.	0.999990361384395	0.938
18	2769986	G	T	18	2769988	y	y	splicing	SMCHD1(NM_015295:exon39:c.4847-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4847-1G>T;ENST00000261598:exon39:c.4847-1G>T;ENST00000577880:exon28:c.3260-1G>T;ENST00000584897:exon24:c.2667-1G>T)	.	.	0.999990361384395	0.938
18	2769987	A	C	18	2769989	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.A4847C:p.D1616A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4847C:p.D1616A;ENSG00000101596:ENST00000577880:exon28:c.A3260C:p.D1087A;ENSG00000101596:ENST00000261598:exon39:c.A4847C:p.D1616A;	0.362494696492596	0.578
18	2769987	A	G	18	2769989	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.A4847G:p.D1616G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4847G:p.D1616G;ENSG00000101596:ENST00000577880:exon28:c.A3260G:p.D1087G;ENSG00000101596:ENST00000261598:exon39:c.A4847G:p.D1616G;	0.50876747494968	0.632
18	2769987	A	T	18	2769989	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.A4847T:p.D1616V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4847T:p.D1616V;ENSG00000101596:ENST00000577880:exon28:c.A3260T:p.D1087V;ENSG00000101596:ENST00000261598:exon39:c.A4847T:p.D1616V;	0.362494696492596	0.492
18	2769988	T	A	18	2769990	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.T4848A:p.D1616E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.T4848A:p.D1616E;ENSG00000101596:ENST00000577880:exon28:c.T3261A:p.D1087E;ENSG00000101596:ENST00000261598:exon39:c.T4848A:p.D1616E;	0.0282800343069914	0.194
18	2769988	T	C	18	2769990	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon39:c.T4848C:p.D1616D;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.T4848C:p.D1616D;ENSG00000101596:ENST00000577880:exon28:c.T3261C:p.D1087D;ENSG00000101596:ENST00000261598:exon39:c.T4848C:p.D1616D;	8.69224579014582E-4	0.032
18	2769988	T	G	18	2769990	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.T4848G:p.D1616E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.T4848G:p.D1616E;ENSG00000101596:ENST00000577880:exon28:c.T3261G:p.D1087E;ENSG00000101596:ENST00000261598:exon39:c.T4848G:p.D1616E;	0.00840443323419661	0.106
18	2770104	A	C	18	2770106	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.A4964C:p.K1655T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4964C:p.K1655T;ENSG00000101596:ENST00000577880:exon28:c.A3377C:p.K1126T;ENSG00000101596:ENST00000261598:exon39:c.A4964C:p.K1655T;	0.0281901312859088	0.452
18	2770104	A	G	18	2770106	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.A4964G:p.K1655R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4964G:p.K1655R;ENSG00000101596:ENST00000577880:exon28:c.A3377G:p.K1126R;ENSG00000101596:ENST00000261598:exon39:c.A4964G:p.K1655R;	0.00330701801674405	0.07
18	2770104	A	T	18	2770106	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.A4964T:p.K1655I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4964T:p.K1655I;ENSG00000101596:ENST00000577880:exon28:c.A3377T:p.K1126I;ENSG00000101596:ENST00000261598:exon39:c.A4964T:p.K1655I;	0.958657971957925	0.702
18	2770105	A	C	18	2770107	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.A4965C:p.K1655N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4965C:p.K1655N;ENSG00000101596:ENST00000577880:exon28:c.A3378C:p.K1126N;ENSG00000101596:ENST00000261598:exon39:c.A4965C:p.K1655N;	0.357323886238711	0.6
18	2770105	A	G	18	2770107	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon39:c.A4965G:p.K1655K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4965G:p.K1655K;ENSG00000101596:ENST00000577880:exon28:c.A3378G:p.K1126K;ENSG00000101596:ENST00000261598:exon39:c.A4965G:p.K1655K;	0.270451166937036	0.304
18	2770105	A	T	18	2770107	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.A4965T:p.K1655N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.A4965T:p.K1655N;ENSG00000101596:ENST00000577880:exon28:c.A3378T:p.K1126N;ENSG00000101596:ENST00000261598:exon39:c.A4965T:p.K1655N;	0.480999384860949	0.586
18	2770106	T	A	18	2770108	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.T4966A:p.C1656S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.T4966A:p.C1656S;ENSG00000101596:ENST00000577880:exon28:c.T3379A:p.C1127S;ENSG00000101596:ENST00000261598:exon39:c.T4966A:p.C1656S;	0.00255386006850006	0.022
18	2770106	T	C	18	2770108	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.T4966C:p.C1656R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.T4966C:p.C1656R;ENSG00000101596:ENST00000577880:exon28:c.T3379C:p.C1127R;ENSG00000101596:ENST00000261598:exon39:c.T4966C:p.C1656R;	0.961844485043918	0.84
18	2770106	T	G	18	2770108	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon39:c.T4966G:p.C1656G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon39:c.T4966G:p.C1656G;ENSG00000101596:ENST00000577880:exon28:c.T3379G:p.C1127G;ENSG00000101596:ENST00000261598:exon39:c.T4966G:p.C1656G;	0.273859924231216	0.316
18	2770107	G	A	18	2770109	y	y	splicing	SMCHD1(NM_015295:exon39:c.4966+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4966+1G>A;ENST00000261598:exon39:c.4966+1G>A;ENST00000577880:exon28:c.3379+1G>A;ENST00000584897:exon24:c.2786+1G>A)	.	.	0.999990361384395	0.938
18	2770107	G	C	18	2770109	y	y	splicing	SMCHD1(NM_015295:exon39:c.4966+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4966+1G>C;ENST00000261598:exon39:c.4966+1G>C;ENST00000577880:exon28:c.3379+1G>C;ENST00000584897:exon24:c.2786+1G>C)	.	.	0.999990361384395	0.938
18	2770107	G	T	18	2770109	y	y	splicing	SMCHD1(NM_015295:exon39:c.4966+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4966+1G>T;ENST00000261598:exon39:c.4966+1G>T;ENST00000577880:exon28:c.3379+1G>T;ENST00000584897:exon24:c.2786+1G>T)	.	.	0.999990361384395	0.938
18	2770108	T	A	18	2770110	y	y	splicing	SMCHD1(NM_015295:exon39:c.4966+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4966+2T>A;ENST00000261598:exon39:c.4966+2T>A;ENST00000577880:exon28:c.3379+2T>A;ENST00000584897:exon24:c.2786+2T>A)	.	.	0.999988247793601	0.928
18	2770108	T	C	18	2770110	y	y	splicing	SMCHD1(NM_015295:exon39:c.4966+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4966+2T>C;ENST00000261598:exon39:c.4966+2T>C;ENST00000577880:exon28:c.3379+2T>C;ENST00000584897:exon24:c.2786+2T>C)	.	.	0.987256086742815	0.684
18	2770108	T	G	18	2770110	y	y	splicing	SMCHD1(NM_015295:exon39:c.4966+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon39:c.4966+2T>G;ENST00000261598:exon39:c.4966+2T>G;ENST00000577880:exon28:c.3379+2T>G;ENST00000584897:exon24:c.2786+2T>G)	.	.	0.999978952611685	0.926
18	2770109	A	C	18	2770111	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999628040127067	0.898
18	2770109	A	G	18	2770111	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00997054340312558	0.164
18	2770109	A	T	18	2770111	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999469212281569	0.804
18	2770110	A	C	18	2770112	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.874517994250787	0.586
18	2770110	A	G	18	2770112	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.990631488672468	0.818
18	2770110	A	T	18	2770112	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.907738498785933	0.73
18	2770111	G	A	18	2770113	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999585042450604	0.912
18	2770111	G	C	18	2770113	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999506675188241	0.756
18	2770111	G	T	18	2770113	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999850475276418	0.92
18	2770112	T	A	18	2770114	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.756935211485549	0.534
18	2770112	T	C	18	2770114	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.682054747805434	0.498
18	2770112	T	G	18	2770114	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.235393468241041	0.442
18	2770113	C	A	18	2770115	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.8260506973063E-5	0.0
18	2770113	C	G	18	2770115	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.88073742042965E-5	0.0
18	2770113	C	T	18	2770115	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.88073742042965E-5	0.0
18	2770114	A	C	18	2770116	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.20145957029007E-5	0.002
18	2770114	A	G	18	2770116	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.20145957029007E-5	0.002
18	2770114	A	T	18	2770116	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.20145957029007E-5	0.002
18	2771519	T	A	18	2771521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0305701326103051	0.208
18	2771519	T	C	18	2771521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.1545068431523E-4	0.024
18	2771519	T	G	18	2771521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0217951615836572	0.224
18	2771520	T	A	18	2771522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00492223191094265	0.182
18	2771520	T	C	18	2771522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.12150438832009E-4	0.028
18	2771520	T	G	18	2771522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00377772050326752	0.18
18	2771521	T	A	18	2771523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00830972001693815	0.132
18	2771521	T	C	18	2771523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.39171254367783E-4	0.012
18	2771521	T	G	18	2771523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00938173837384233	0.154
18	2771522	T	A	18	2771524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00194313301639181	0.186
18	2771522	T	C	18	2771524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.42252034474725E-5	0.01
18	2771522	T	G	18	2771524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.92664473622049E-4	0.194
18	2771523	T	A	18	2771525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.78363226026031E-4	0.02
18	2771523	T	C	18	2771525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.02778981829731E-5	0.0
18	2771523	T	G	18	2771525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.90761158102919E-4	0.02
18	2771524	A	C	18	2771526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.11599788285826E-6	0.0
18	2771524	A	G	18	2771526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.15020457490687E-5	0.0
18	2771524	A	T	18	2771526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.11599788285826E-6	0.0
18	2771525	T	A	18	2771527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0830063141724006	0.342
18	2771525	T	C	18	2771527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.53193876096099E-4	0.044
18	2771525	T	G	18	2771527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999176566744465	0.872
18	2771526	T	A	18	2771528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00949282914167323	0.314
18	2771526	T	C	18	2771528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.15666551563918E-4	0.1
18	2771526	T	G	18	2771528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00862300722922117	0.342
18	2771527	T	A	18	2771529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.87275199121086E-4	0.006
18	2771527	T	C	18	2771529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.51328425790917E-4	0.01
18	2771527	T	G	18	2771529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.87275199121086E-4	0.012
18	2771528	T	A	18	2771530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00581002501883156	0.126
18	2771528	T	C	18	2771530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.51248528545075E-4	0.04
18	2771528	T	G	18	2771530	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.978176500499444	0.624
18	2771529	A	C	18	2771531	y	y	splicing	SMCHD1(NM_015295:exon40:c.4967-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.4967-2A>C;ENST00000261598:exon40:c.4967-2A>C;ENST00000577880:exon29:c.3380-2A>C;ENST00000584897:exon25:c.2787-2A>C)	.	.	0.999965414246739	0.946
18	2771529	A	G	18	2771531	y	y	splicing	SMCHD1(NM_015295:exon40:c.4967-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.4967-2A>G;ENST00000261598:exon40:c.4967-2A>G;ENST00000577880:exon29:c.3380-2A>G;ENST00000584897:exon25:c.2787-2A>G)	.	.	0.999965414246739	0.944
18	2771529	A	T	18	2771531	y	y	splicing	SMCHD1(NM_015295:exon40:c.4967-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.4967-2A>T;ENST00000261598:exon40:c.4967-2A>T;ENST00000577880:exon29:c.3380-2A>T;ENST00000584897:exon25:c.2787-2A>T)	.	.	0.99996509239462	0.944
18	2771530	G	A	18	2771532	y	y	splicing	SMCHD1(NM_015295:exon40:c.4967-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.4967-1G>A;ENST00000261598:exon40:c.4967-1G>A;ENST00000577880:exon29:c.3380-1G>A;ENST00000584897:exon25:c.2787-1G>A)	.	.	0.99994568797423	0.93
18	2771530	G	C	18	2771532	y	y	splicing	SMCHD1(NM_015295:exon40:c.4967-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.4967-1G>C;ENST00000261598:exon40:c.4967-1G>C;ENST00000577880:exon29:c.3380-1G>C;ENST00000584897:exon25:c.2787-1G>C)	.	.	0.99994568797423	0.936
18	2771530	G	T	18	2771532	y	y	splicing	SMCHD1(NM_015295:exon40:c.4967-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.4967-1G>T;ENST00000261598:exon40:c.4967-1G>T;ENST00000577880:exon29:c.3380-1G>T;ENST00000584897:exon25:c.2787-1G>T)	.	.	0.99994568797423	0.93
18	2771531	G	A	18	2771533	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.G4967A:p.C1656Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.G4967A:p.C1656Y;ENSG00000101596:ENST00000577880:exon29:c.G3380A:p.C1127Y;ENSG00000101596:ENST00000261598:exon40:c.G4967A:p.C1656Y;	0.99669791299408	0.66
18	2771531	G	C	18	2771533	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.G4967C:p.C1656S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.G4967C:p.C1656S;ENSG00000101596:ENST00000577880:exon29:c.G3380C:p.C1127S;ENSG00000101596:ENST00000261598:exon40:c.G4967C:p.C1656S;	0.391260495009264	0.544
18	2771531	G	T	18	2771533	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.G4967T:p.C1656F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.G4967T:p.C1656F;ENSG00000101596:ENST00000577880:exon29:c.G3380T:p.C1127F;ENSG00000101596:ENST00000261598:exon40:c.G4967T:p.C1656F;	0.997644044878701	0.744
18	2771532	T	A	18	2771534	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon40:c.T4968A:p.C1656X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon40:c.T4968A:p.C1656X;ENSG00000101596:ENST00000577880:exon29:c.T3381A:p.C1127X;ENSG00000101596:ENST00000261598:exon40:c.T4968A:p.C1656X;	5.7823961120412E-5	0.244
18	2771532	T	C	18	2771534	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon40:c.T4968C:p.C1656C;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.T4968C:p.C1656C;ENSG00000101596:ENST00000577880:exon29:c.T3381C:p.C1127C;ENSG00000101596:ENST00000261598:exon40:c.T4968C:p.C1656C;	1.0398472008566E-4	0.004
18	2771532	T	G	18	2771534	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.T4968G:p.C1656W;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.T4968G:p.C1656W;ENSG00000101596:ENST00000577880:exon29:c.T3381G:p.C1127W;ENSG00000101596:ENST00000261598:exon40:c.T4968G:p.C1656W;	2.8555494376715E-4	0.006
18	2771614	C	A	18	2771616	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.C5050A:p.Q1684K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.C5050A:p.Q1684K;ENSG00000101596:ENST00000577880:exon29:c.C3463A:p.Q1155K;ENSG00000101596:ENST00000261598:exon40:c.C5050A:p.Q1684K;	8.40205875769479E-4	0.132
18	2771614	C	G	18	2771616	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.C5050G:p.Q1684E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.C5050G:p.Q1684E;ENSG00000101596:ENST00000577880:exon29:c.C3463G:p.Q1155E;ENSG00000101596:ENST00000261598:exon40:c.C5050G:p.Q1684E;	0.00577704915182259	0.394
18	2771614	C	T	18	2771616	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon40:c.C5050T:p.Q1684X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon40:c.C5050T:p.Q1684X;ENSG00000101596:ENST00000577880:exon29:c.C3463T:p.Q1155X;ENSG00000101596:ENST00000261598:exon40:c.C5050T:p.Q1684X;	0.999703676135715	0.956
18	2771615	A	C	18	2771617	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.A5051C:p.Q1684P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.A5051C:p.Q1684P;ENSG00000101596:ENST00000577880:exon29:c.A3464C:p.Q1155P;ENSG00000101596:ENST00000261598:exon40:c.A5051C:p.Q1684P;	0.979902981087697	0.844
18	2771615	A	G	18	2771617	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.A5051G:p.Q1684R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.A5051G:p.Q1684R;ENSG00000101596:ENST00000577880:exon29:c.A3464G:p.Q1155R;ENSG00000101596:ENST00000261598:exon40:c.A5051G:p.Q1684R;	0.993023780605857	0.834
18	2771615	A	T	18	2771617	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.A5051T:p.Q1684L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.A5051T:p.Q1684L;ENSG00000101596:ENST00000577880:exon29:c.A3464T:p.Q1155L;ENSG00000101596:ENST00000261598:exon40:c.A5051T:p.Q1684L;	0.993148778725108	0.894
18	2771616	G	A	18	2771618	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon40:c.G5052A:p.Q1684Q;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.G5052A:p.Q1684Q;ENSG00000101596:ENST00000577880:exon29:c.G3465A:p.Q1155Q;ENSG00000101596:ENST00000261598:exon40:c.G5052A:p.Q1684Q;	0.999969612355794	0.962
18	2771616	G	C	18	2771618	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.G5052C:p.Q1684H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.G5052C:p.Q1684H;ENSG00000101596:ENST00000577880:exon29:c.G3465C:p.Q1155H;ENSG00000101596:ENST00000261598:exon40:c.G5052C:p.Q1684H;	0.999996534852743	0.99
18	2771616	G	T	18	2771618	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon40:c.G5052T:p.Q1684H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon40:c.G5052T:p.Q1684H;ENSG00000101596:ENST00000577880:exon29:c.G3465T:p.Q1155H;ENSG00000101596:ENST00000261598:exon40:c.G5052T:p.Q1684H;	0.999989894585195	0.962
18	2771617	G	A	18	2771619	y	y	splicing	SMCHD1(NM_015295:exon40:c.5052+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.5052+1G>A;ENST00000261598:exon40:c.5052+1G>A;ENST00000577880:exon29:c.3465+1G>A;ENST00000584897:exon25:c.2872+1G>A)	.	.	0.999969255906173	0.852
18	2771617	G	C	18	2771619	y	y	splicing	SMCHD1(NM_015295:exon40:c.5052+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.5052+1G>C;ENST00000261598:exon40:c.5052+1G>C;ENST00000577880:exon29:c.3465+1G>C;ENST00000584897:exon25:c.2872+1G>C)	.	.	0.999962958601995	0.854
18	2771617	G	T	18	2771619	y	y	splicing	SMCHD1(NM_015295:exon40:c.5052+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.5052+1G>T;ENST00000261598:exon40:c.5052+1G>T;ENST00000577880:exon29:c.3465+1G>T;ENST00000584897:exon25:c.2872+1G>T)	.	.	0.999969255906173	0.858
18	2771618	T	A	18	2771620	y	y	splicing	SMCHD1(NM_015295:exon40:c.5052+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.5052+2T>A;ENST00000261598:exon40:c.5052+2T>A;ENST00000577880:exon29:c.3465+2T>A;ENST00000584897:exon25:c.2872+2T>A)	.	.	0.99998382861657	0.846
18	2771618	T	C	18	2771620	y	y	splicing	SMCHD1(NM_015295:exon40:c.5052+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.5052+2T>C;ENST00000261598:exon40:c.5052+2T>C;ENST00000577880:exon29:c.3465+2T>C;ENST00000584897:exon25:c.2872+2T>C)	.	.	0.957383825028145	0.556
18	2771618	T	G	18	2771620	y	y	splicing	SMCHD1(NM_015295:exon40:c.5052+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon40:c.5052+2T>G;ENST00000261598:exon40:c.5052+2T>G;ENST00000577880:exon29:c.3465+2T>G;ENST00000584897:exon25:c.2872+2T>G)	.	.	0.999980516178445	0.83
18	2771619	A	C	18	2771621	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999686126235368	0.78
18	2771619	A	G	18	2771621	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.945858360209594	0.634
18	2771619	A	T	18	2771621	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997681640523741	0.714
18	2771620	C	A	18	2771622	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.30614890030334E-5	0.022
18	2771620	C	G	18	2771622	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.1482158770066E-4	0.054
18	2771620	C	T	18	2771622	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.43097627788602E-5	0.004
18	2771621	A	C	18	2771623	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.21683755092836E-4	0.028
18	2771621	A	G	18	2771623	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00635595109869122	0.156
18	2771621	A	T	18	2771623	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.06446773234072E-4	0.016
18	2771622	G	A	18	2771624	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.07309844066847E-5	0.026
18	2771622	G	C	18	2771624	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.1455490523216E-5	0.008
18	2771622	G	T	18	2771624	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.81128536761306E-5	0.028
18	2771623	C	A	18	2771625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.25830683074669E-5	0.0
18	2771623	C	G	18	2771625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.24748539095895E-5	0.0
18	2771623	C	T	18	2771625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.24748539095895E-5	0.0
18	2771624	T	A	18	2771626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.46093751699792E-4	0.004
18	2771624	T	C	18	2771626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.17805863145518E-4	0.004
18	2771624	T	G	18	2771626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.11671960178457E-4	0.006
18	2772236	T	A	18	2772238	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0284964284848302	0.308
18	2772236	T	C	18	2772238	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.90253904784419E-5	0.026
18	2772236	T	G	18	2772238	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0172119160995633	0.29
18	2772237	A	C	18	2772239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.936203545266E-5	0.0
18	2772237	A	G	18	2772239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.91931967997746E-5	0.0
18	2772237	A	T	18	2772239	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.23717317517738E-4	0.09
18	2772238	T	A	18	2772240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0457416968509252	0.416
18	2772238	T	C	18	2772240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00125730918292409	0.15
18	2772238	T	G	18	2772240	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999938210172049	0.972
18	2772239	A	C	18	2772241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.65129584062462E-5	0.0
18	2772239	A	G	18	2772241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.69186659758868E-6	0.004
18	2772239	A	T	18	2772241	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.92077480114902E-5	0.026
18	2772240	A	C	18	2772242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.67884181909475E-5	0.0
18	2772240	A	G	18	2772242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.997902753962566	0.986
18	2772240	A	T	18	2772242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.24835601689986E-5	0.0
18	2772241	A	C	18	2772243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.63202842608065E-4	0.004
18	2772241	A	G	18	2772243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998289312191676	0.97
18	2772241	A	T	18	2772243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.86843685734231E-4	0.008
18	2772242	T	A	18	2772244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.226713927729357	0.424
18	2772242	T	C	18	2772244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.41720828188091E-4	0.054
18	2772242	T	G	18	2772244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999832630944479	0.948
18	2772243	T	A	18	2772245	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.545960371002075	0.5
18	2772243	T	C	18	2772245	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00478763175896441	0.166
18	2772243	T	G	18	2772245	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.254638072552544	0.494
18	2772244	A	C	18	2772246	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.89312640599383E-4	0.018
18	2772244	A	G	18	2772246	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.03380629725632E-4	0.116
18	2772244	A	T	18	2772246	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.72868351978628E-4	0.028
18	2772245	T	A	18	2772247	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00473947484524208	0.25
18	2772245	T	C	18	2772247	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.68912615777234E-5	0.0
18	2772245	T	G	18	2772247	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.787029287369296	0.662
18	2772246	A	C	18	2772248	y	y	splicing	SMCHD1(NM_015295:exon41:c.5053-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5053-2A>C;ENST00000261598:exon41:c.5053-2A>C;ENST00000577880:exon30:c.3466-2A>C;ENST00000584897:exon26:c.2873-2A>C)	.	.	0.999969255906173	0.868
18	2772246	A	G	18	2772248	y	y	splicing	SMCHD1(NM_015295:exon41:c.5053-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5053-2A>G;ENST00000261598:exon41:c.5053-2A>G;ENST00000577880:exon30:c.3466-2A>G;ENST00000584897:exon26:c.2873-2A>G)	.	.	0.999969255906173	0.87
18	2772246	A	T	18	2772248	y	y	splicing	SMCHD1(NM_015295:exon41:c.5053-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5053-2A>T;ENST00000261598:exon41:c.5053-2A>T;ENST00000577880:exon30:c.3466-2A>T;ENST00000584897:exon26:c.2873-2A>T)	.	.	0.999972155025474	0.854
18	2772247	G	A	18	2772249	y	y	splicing	SMCHD1(NM_015295:exon41:c.5053-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5053-1G>A;ENST00000261598:exon41:c.5053-1G>A;ENST00000577880:exon30:c.3466-1G>A;ENST00000584897:exon26:c.2873-1G>A)	.	.	0.999973328973086	0.906
18	2772247	G	C	18	2772249	y	y	splicing	SMCHD1(NM_015295:exon41:c.5053-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5053-1G>C;ENST00000261598:exon41:c.5053-1G>C;ENST00000577880:exon30:c.3466-1G>C;ENST00000584897:exon26:c.2873-1G>C)	.	.	0.999974107838956	0.872
18	2772247	G	T	18	2772249	y	y	splicing	SMCHD1(NM_015295:exon41:c.5053-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5053-1G>T;ENST00000261598:exon41:c.5053-1G>T;ENST00000577880:exon30:c.3466-1G>T;ENST00000584897:exon26:c.2873-1G>T)	.	.	0.999974773836978	0.898
18	2772248	G	A	18	2772250	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.G5053A:p.V1685M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.G5053A:p.V1685M;ENSG00000101596:ENST00000577880:exon30:c.G3466A:p.V1156M;ENSG00000101596:ENST00000261598:exon41:c.G5053A:p.V1685M;	0.00122221313869589	0.022
18	2772248	G	C	18	2772250	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.G5053C:p.V1685L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.G5053C:p.V1685L;ENSG00000101596:ENST00000577880:exon30:c.G3466C:p.V1156L;ENSG00000101596:ENST00000261598:exon41:c.G5053C:p.V1685L;	0.00300503749504959	0.116
18	2772248	G	T	18	2772250	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.G5053T:p.V1685L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.G5053T:p.V1685L;ENSG00000101596:ENST00000577880:exon30:c.G3466T:p.V1156L;ENSG00000101596:ENST00000261598:exon41:c.G5053T:p.V1685L;	0.199096649677514	0.284
18	2772249	T	A	18	2772251	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.T5054A:p.V1685E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.T5054A:p.V1685E;ENSG00000101596:ENST00000577880:exon30:c.T3467A:p.V1156E;ENSG00000101596:ENST00000261598:exon41:c.T5054A:p.V1685E;	5.43987564953043E-4	0.094
18	2772249	T	C	18	2772251	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.T5054C:p.V1685A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.T5054C:p.V1685A;ENSG00000101596:ENST00000577880:exon30:c.T3467C:p.V1156A;ENSG00000101596:ENST00000261598:exon41:c.T5054C:p.V1685A;	5.20226770149088E-4	0.084
18	2772249	T	G	18	2772251	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.T5054G:p.V1685G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.T5054G:p.V1685G;ENSG00000101596:ENST00000577880:exon30:c.T3467G:p.V1156G;ENSG00000101596:ENST00000261598:exon41:c.T5054G:p.V1685G;	0.00260416503806161	0.248
18	2772368	A	C	18	2772370	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.A5173C:p.K1725Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.A5173C:p.K1725Q;ENSG00000101596:ENST00000577880:exon30:c.A3586C:p.K1196Q;ENSG00000101596:ENST00000261598:exon41:c.A5173C:p.K1725Q;	0.142337128615185	0.34
18	2772368	A	G	18	2772370	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.A5173G:p.K1725E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.A5173G:p.K1725E;ENSG00000101596:ENST00000577880:exon30:c.A3586G:p.K1196E;ENSG00000101596:ENST00000261598:exon41:c.A5173G:p.K1725E;	0.828234651498476	0.502
18	2772368	A	T	18	2772370	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon41:c.A5173T:p.K1725X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon41:c.A5173T:p.K1725X;ENSG00000101596:ENST00000577880:exon30:c.A3586T:p.K1196X;ENSG00000101596:ENST00000261598:exon41:c.A5173T:p.K1725X;	0.997813588191318	0.85
18	2772369	A	C	18	2772371	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.A5174C:p.K1725T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.A5174C:p.K1725T;ENSG00000101596:ENST00000577880:exon30:c.A3587C:p.K1196T;ENSG00000101596:ENST00000261598:exon41:c.A5174C:p.K1725T;	0.999192149965563	0.978
18	2772369	A	G	18	2772371	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.A5174G:p.K1725R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.A5174G:p.K1725R;ENSG00000101596:ENST00000577880:exon30:c.A3587G:p.K1196R;ENSG00000101596:ENST00000261598:exon41:c.A5174G:p.K1725R;	0.998654962214368	0.98
18	2772369	A	T	18	2772371	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.A5174T:p.K1725M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.A5174T:p.K1725M;ENSG00000101596:ENST00000577880:exon30:c.A3587T:p.K1196M;ENSG00000101596:ENST00000261598:exon41:c.A5174T:p.K1725M;	0.999512977080835	0.966
18	2772370	G	A	18	2772372	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon41:c.G5175A:p.K1725K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.G5175A:p.K1725K;ENSG00000101596:ENST00000577880:exon30:c.G3588A:p.K1196K;ENSG00000101596:ENST00000261598:exon41:c.G5175A:p.K1725K;	0.999969309256025	0.996
18	2772370	G	C	18	2772372	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.G5175C:p.K1725N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.G5175C:p.K1725N;ENSG00000101596:ENST00000577880:exon30:c.G3588C:p.K1196N;ENSG00000101596:ENST00000261598:exon41:c.G5175C:p.K1725N;	0.999995731520841	1.0
18	2772370	G	T	18	2772372	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon41:c.G5175T:p.K1725N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon41:c.G5175T:p.K1725N;ENSG00000101596:ENST00000577880:exon30:c.G3588T:p.K1196N;ENSG00000101596:ENST00000261598:exon41:c.G5175T:p.K1725N;	0.999985343080664	1.0
18	2772371	G	A	18	2772373	y	y	splicing	SMCHD1(NM_015295:exon41:c.5175+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5175+1G>A;ENST00000261598:exon41:c.5175+1G>A;ENST00000577880:exon30:c.3588+1G>A;ENST00000584897:exon26:c.2995+1G>A)	.	.	0.99996748057446	0.926
18	2772371	G	C	18	2772373	y	y	splicing	SMCHD1(NM_015295:exon41:c.5175+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5175+1G>C;ENST00000261598:exon41:c.5175+1G>C;ENST00000577880:exon30:c.3588+1G>C;ENST00000584897:exon26:c.2995+1G>C)	.	.	0.99996748057446	0.922
18	2772371	G	T	18	2772373	y	y	splicing	SMCHD1(NM_015295:exon41:c.5175+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5175+1G>T;ENST00000261598:exon41:c.5175+1G>T;ENST00000577880:exon30:c.3588+1G>T;ENST00000584897:exon26:c.2995+1G>T)	.	.	0.99996748057446	0.924
18	2772372	T	A	18	2772374	y	y	splicing	SMCHD1(NM_015295:exon41:c.5175+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5175+2T>A;ENST00000261598:exon41:c.5175+2T>A;ENST00000577880:exon30:c.3588+2T>A;ENST00000584897:exon26:c.2995+2T>A)	.	.	0.999969712949741	0.862
18	2772372	T	C	18	2772374	y	y	splicing	SMCHD1(NM_015295:exon41:c.5175+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5175+2T>C;ENST00000261598:exon41:c.5175+2T>C;ENST00000577880:exon30:c.3588+2T>C;ENST00000584897:exon26:c.2995+2T>C)	.	.	0.888714660764904	0.556
18	2772372	T	G	18	2772374	y	y	splicing	SMCHD1(NM_015295:exon41:c.5175+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon41:c.5175+2T>G;ENST00000261598:exon41:c.5175+2T>G;ENST00000577880:exon30:c.3588+2T>G;ENST00000584897:exon26:c.2995+2T>G)	.	.	0.999962958601995	0.818
18	2772373	T	A	18	2772375	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.51346045549598E-4	0.09
18	2772373	T	C	18	2772375	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00277146894019419	0.144
18	2772373	T	G	18	2772375	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.07137915862966E-4	0.082
18	2772374	T	A	18	2772376	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.79450019792972E-4	0.11
18	2772374	T	C	18	2772376	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00223074147231853	0.12
18	2772374	T	G	18	2772376	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.43903300287174E-4	0.032
18	2772375	G	A	18	2772377	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999565368249477	0.738
18	2772375	G	C	18	2772377	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999977116140804	0.918
18	2772375	G	T	18	2772377	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999394158602031	0.782
18	2772376	T	A	18	2772378	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.336232062111417	0.516
18	2772376	T	C	18	2772378	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.183489205532692	0.52
18	2772376	T	G	18	2772378	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0184651684362622	0.474
18	2772377	G	A	18	2772379	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.97290218107083E-5	0.006
18	2772377	G	C	18	2772379	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.97345165013622E-5	0.004
18	2772377	G	T	18	2772379	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.440604014081E-5	0.038
18	2772378	T	A	18	2772380	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.29255459814382E-4	0.002
18	2772378	T	C	18	2772380	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.58331501283803E-4	0.006
18	2772378	T	G	18	2772380	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.06555928905444E-4	0.02
18	2775720	A	C	18	2775722	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.71952732116276E-4	0.01
18	2775720	A	G	18	2775722	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99897502989209	0.98
18	2775720	A	T	18	2775722	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00105611404929954	0.106
18	2775721	A	C	18	2775723	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.31403095004746E-4	0.026
18	2775721	A	G	18	2775723	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998258243143742	0.938
18	2775721	A	T	18	2775723	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00115154578935463	0.176
18	2775722	T	A	18	2775724	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999637042737712	0.94
18	2775722	T	C	18	2775724	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.338603819530869	0.332
18	2775722	T	G	18	2775724	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999846710357048	0.942
18	2775723	G	A	18	2775725	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.986684456887576	0.938
18	2775723	G	C	18	2775725	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.4455267421561E-5	0.012
18	2775723	G	T	18	2775725	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.86663311747619E-5	0.026
18	2775724	G	A	18	2775726	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.995039332422566	0.968
18	2775724	G	C	18	2775726	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.79717396362094E-5	0.054
18	2775724	G	T	18	2775726	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.79717396362094E-5	0.064
18	2775725	G	A	18	2775727	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.77603447318067E-5	0.038
18	2775725	G	C	18	2775727	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.94676664783226E-5	0.016
18	2775725	G	T	18	2775727	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.94676664783226E-5	0.018
18	2775726	T	A	18	2775728	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.902376107778456	0.674
18	2775726	T	C	18	2775728	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0034456469553732	0.07
18	2775726	T	G	18	2775728	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.902376107778456	0.66
18	2775727	T	A	18	2775729	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.985432258481088	0.77
18	2775727	T	C	18	2775729	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0112608659510423	0.278
18	2775727	T	G	18	2775729	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.974669175105607	0.728
18	2775728	A	C	18	2775730	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.95222568838684E-6	0.052
18	2775728	A	G	18	2775730	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.72745166478608E-5	0.018
18	2775728	A	T	18	2775730	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.61827274315083E-5	0.082
18	2775729	T	A	18	2775731	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.406382330395087	0.454
18	2775729	T	C	18	2775731	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.29628644225999E-4	0.046
18	2775729	T	G	18	2775731	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.847154070233137	0.632
18	2775730	A	C	18	2775732	y	y	splicing	SMCHD1(NM_015295:exon42:c.5176-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5176-2A>C;ENST00000261598:exon42:c.5176-2A>C;ENST00000577880:exon31:c.3589-2A>C;ENST00000584897:exon27:c.2996-2A>C)	.	.	0.9998780249771	0.894
18	2775730	A	G	18	2775732	y	y	splicing	SMCHD1(NM_015295:exon42:c.5176-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5176-2A>G;ENST00000261598:exon42:c.5176-2A>G;ENST00000577880:exon31:c.3589-2A>G;ENST00000584897:exon27:c.2996-2A>G)	.	.	0.9998780249771	0.894
18	2775730	A	T	18	2775732	y	y	splicing	SMCHD1(NM_015295:exon42:c.5176-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5176-2A>T;ENST00000261598:exon42:c.5176-2A>T;ENST00000577880:exon31:c.3589-2A>T;ENST00000584897:exon27:c.2996-2A>T)	.	.	0.9998780249771	0.88
18	2775731	G	A	18	2775733	y	y	splicing	SMCHD1(NM_015295:exon42:c.5176-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5176-1G>A;ENST00000261598:exon42:c.5176-1G>A;ENST00000577880:exon31:c.3589-1G>A;ENST00000584897:exon27:c.2996-1G>A)	.	.	0.999983122244869	0.884
18	2775731	G	C	18	2775733	y	y	splicing	SMCHD1(NM_015295:exon42:c.5176-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5176-1G>C;ENST00000261598:exon42:c.5176-1G>C;ENST00000577880:exon31:c.3589-1G>C;ENST00000584897:exon27:c.2996-1G>C)	.	.	0.999966929472621	0.878
18	2775731	G	T	18	2775733	y	y	splicing	SMCHD1(NM_015295:exon42:c.5176-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5176-1G>T;ENST00000261598:exon42:c.5176-1G>T;ENST00000577880:exon31:c.3589-1G>T;ENST00000584897:exon27:c.2996-1G>T)	.	.	0.999983122244869	0.884
18	2775732	A	C	18	2775734	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.A5176C:p.I1726L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.A5176C:p.I1726L;ENSG00000101596:ENST00000577880:exon31:c.A3589C:p.I1197L;ENSG00000101596:ENST00000261598:exon42:c.A5176C:p.I1726L;	0.491210561714729	0.432
18	2775732	A	G	18	2775734	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.A5176G:p.I1726V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.A5176G:p.I1726V;ENSG00000101596:ENST00000577880:exon31:c.A3589G:p.I1197V;ENSG00000101596:ENST00000261598:exon42:c.A5176G:p.I1726V;	0.00120005370623422	0.05
18	2775732	A	T	18	2775734	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.A5176T:p.I1726F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.A5176T:p.I1726F;ENSG00000101596:ENST00000577880:exon31:c.A3589T:p.I1197F;ENSG00000101596:ENST00000261598:exon42:c.A5176T:p.I1726F;	0.627286133342025	0.41
18	2775733	T	A	18	2775735	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.T5177A:p.I1726N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.T5177A:p.I1726N;ENSG00000101596:ENST00000577880:exon31:c.T3590A:p.I1197N;ENSG00000101596:ENST00000261598:exon42:c.T5177A:p.I1726N;	0.346052188042649	0.376
18	2775733	T	C	18	2775735	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.T5177C:p.I1726T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.T5177C:p.I1726T;ENSG00000101596:ENST00000577880:exon31:c.T3590C:p.I1197T;ENSG00000101596:ENST00000261598:exon42:c.T5177C:p.I1726T;	0.423867503957227	0.414
18	2775733	T	G	18	2775735	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.T5177G:p.I1726S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.T5177G:p.I1726S;ENSG00000101596:ENST00000577880:exon31:c.T3590G:p.I1197S;ENSG00000101596:ENST00000261598:exon42:c.T5177G:p.I1726S;	0.357151469911294	0.4
18	2775920	A	C	18	2775922	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.A5364C:p.K1788N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.A5364C:p.K1788N;ENSG00000101596:ENST00000577880:exon31:c.A3777C:p.K1259N;ENSG00000101596:ENST00000261598:exon42:c.A5364C:p.K1788N;	8.02292394770601E-4	0.018
18	2775920	A	G	18	2775922	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon42:c.A5364G:p.K1788K;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.A5364G:p.K1788K;ENSG00000101596:ENST00000577880:exon31:c.A3777G:p.K1259K;ENSG00000101596:ENST00000261598:exon42:c.A5364G:p.K1788K;	0.341453226958957	0.314
18	2775920	A	T	18	2775922	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.A5364T:p.K1788N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.A5364T:p.K1788N;ENSG00000101596:ENST00000577880:exon31:c.A3777T:p.K1259N;ENSG00000101596:ENST00000261598:exon42:c.A5364T:p.K1788N;	0.657675452695307	0.524
18	2775921	A	C	18	2775923	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon42:c.A5365C:p.R1789R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.A5365C:p.R1789R;ENSG00000101596:ENST00000577880:exon31:c.A3778C:p.R1260R;ENSG00000101596:ENST00000261598:exon42:c.A5365C:p.R1789R;	0.999185938174962	0.972
18	2775921	A	G	18	2775923	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.A5365G:p.R1789G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.A5365G:p.R1789G;ENSG00000101596:ENST00000577880:exon31:c.A3778G:p.R1260G;ENSG00000101596:ENST00000261598:exon42:c.A5365G:p.R1789G;	0.999976013373653	0.994
18	2775921	A	T	18	2775923	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon42:c.A5365T:p.R1789X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon42:c.A5365T:p.R1789X;ENSG00000101596:ENST00000577880:exon31:c.A3778T:p.R1260X;ENSG00000101596:ENST00000261598:exon42:c.A5365T:p.R1789X;	0.999958344017836	1.0
18	2775922	G	A	18	2775924	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.G5366A:p.R1789K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.G5366A:p.R1789K;ENSG00000101596:ENST00000577880:exon31:c.G3779A:p.R1260K;ENSG00000101596:ENST00000261598:exon42:c.G5366A:p.R1789K;	0.999983164931663	0.984
18	2775922	G	C	18	2775924	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.G5366C:p.R1789T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.G5366C:p.R1789T;ENSG00000101596:ENST00000577880:exon31:c.G3779C:p.R1260T;ENSG00000101596:ENST00000261598:exon42:c.G5366C:p.R1789T;	0.999996073218115	0.994
18	2775922	G	T	18	2775924	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon42:c.G5366T:p.R1789I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon42:c.G5366T:p.R1789I;ENSG00000101596:ENST00000577880:exon31:c.G3779T:p.R1260I;ENSG00000101596:ENST00000261598:exon42:c.G5366T:p.R1789I;	0.999986980933757	0.938
18	2775923	G	A	18	2775925	y	y	splicing	SMCHD1(NM_015295:exon42:c.5366+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5366+1G>A;ENST00000261598:exon42:c.5366+1G>A;ENST00000577880:exon31:c.3779+1G>A;ENST00000584897:exon27:c.3186+1G>A)	.	.	0.999989072007339	0.932
18	2775923	G	C	18	2775925	y	y	splicing	SMCHD1(NM_015295:exon42:c.5366+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5366+1G>C;ENST00000261598:exon42:c.5366+1G>C;ENST00000577880:exon31:c.3779+1G>C;ENST00000584897:exon27:c.3186+1G>C)	.	.	0.999989072007339	0.934
18	2775923	G	T	18	2775925	y	y	splicing	SMCHD1(NM_015295:exon42:c.5366+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5366+1G>T;ENST00000261598:exon42:c.5366+1G>T;ENST00000577880:exon31:c.3779+1G>T;ENST00000584897:exon27:c.3186+1G>T)	.	.	0.999989072007339	0.904
18	2775924	T	A	18	2775926	y	y	splicing	SMCHD1(NM_015295:exon42:c.5366+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5366+2T>A;ENST00000261598:exon42:c.5366+2T>A;ENST00000577880:exon31:c.3779+2T>A;ENST00000584897:exon27:c.3186+2T>A)	.	.	0.999988247793601	0.928
18	2775924	T	C	18	2775926	y	y	splicing	SMCHD1(NM_015295:exon42:c.5366+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5366+2T>C;ENST00000261598:exon42:c.5366+2T>C;ENST00000577880:exon31:c.3779+2T>C;ENST00000584897:exon27:c.3186+2T>C)	.	.	0.999931547473318	0.894
18	2775924	T	G	18	2775926	y	y	splicing	SMCHD1(NM_015295:exon42:c.5366+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon42:c.5366+2T>G;ENST00000261598:exon42:c.5366+2T>G;ENST00000577880:exon31:c.3779+2T>G;ENST00000584897:exon27:c.3186+2T>G)	.	.	0.999988247793601	0.928
18	2775925	T	A	18	2775927	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.28530595545046E-4	0.09
18	2775925	T	C	18	2775927	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02645594500887E-4	0.012
18	2775925	T	G	18	2775927	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.59903646281355E-4	0.09
18	2775926	A	C	18	2775928	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.607334818184836	0.444
18	2775926	A	G	18	2775928	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.662716062609972	0.43
18	2775926	A	T	18	2775928	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.422757162229088	0.474
18	2775927	G	A	18	2775929	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999519159541018	0.89
18	2775927	G	C	18	2775929	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999984668119127	0.976
18	2775927	G	T	18	2775929	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999979515365574	0.972
18	2775928	A	C	18	2775930	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.56171384291144E-5	0.014
18	2775928	A	G	18	2775930	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.45094179007903E-5	0.004
18	2775928	A	T	18	2775930	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.63398091843816E-5	0.022
18	2775929	A	C	18	2775931	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.6888363969376E-5	0.002
18	2775929	A	G	18	2775931	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.05860192417078E-4	0.034
18	2775929	A	T	18	2775931	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.04370835606819E-4	0.06
18	2775930	A	C	18	2775932	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.88659875748317E-5	0.0
18	2775930	A	G	18	2775932	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.7670923653172E-5	0.002
18	2775930	A	T	18	2775932	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.43048595509677E-5	0.0
18	2777792	C	A	18	2777794	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.62002792016543E-4	0.004
18	2777792	C	G	18	2777794	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.12227811031815E-5	0.026
18	2777792	C	T	18	2777794	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.95311290841641E-5	0.0
18	2777793	T	A	18	2777795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00978744703771725	0.282
18	2777793	T	C	18	2777795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00184495403889936	0.144
18	2777793	T	G	18	2777795	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.79256746111537E-4	0.27
18	2777794	T	A	18	2777796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00162514823860342	0.154
18	2777794	T	C	18	2777796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.54742962393163E-4	0.014
18	2777794	T	G	18	2777796	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00260006331273449	0.196
18	2777795	T	A	18	2777797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00331624277057961	0.128
18	2777795	T	C	18	2777797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.04865172015837E-4	0.006
18	2777795	T	G	18	2777797	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00148835529792413	0.098
18	2777796	T	A	18	2777798	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00195892962349213	0.096
18	2777796	T	C	18	2777798	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.44072663787703E-5	0.0
18	2777796	T	G	18	2777798	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00159131556488144	0.13
18	2777797	T	A	18	2777799	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.16994458836345E-5	0.044
18	2777797	T	C	18	2777799	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.76352642837359E-6	0.0
18	2777797	T	G	18	2777799	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.74904035839837E-5	0.076
18	2777798	A	C	18	2777800	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.81675401152237E-5	0.004
18	2777798	A	G	18	2777800	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.40770424252016E-5	0.01
18	2777798	A	T	18	2777800	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.55141357140348E-5	0.008
18	2777799	T	A	18	2777801	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00638470706242564	0.242
18	2777799	T	C	18	2777801	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.63782747135315E-4	0.038
18	2777799	T	G	18	2777801	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999839405160629	0.94
18	2777800	T	A	18	2777802	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.08951558784179E-4	0.012
18	2777800	T	C	18	2777802	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.47783629965818E-5	0.008
18	2777800	T	G	18	2777802	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.76828397417356E-4	0.01
18	2777801	T	A	18	2777803	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.160160824699871	0.24
18	2777801	T	C	18	2777803	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.9115851271226E-5	0.016
18	2777801	T	G	18	2777803	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996505192083267	0.686
18	2777802	A	C	18	2777804	y	y	splicing	SMCHD1(NM_015295:exon43:c.5367-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5367-2A>C;ENST00000261598:exon43:c.5367-2A>C;ENST00000577880:exon32:c.3780-2A>C;ENST00000584897:exon28:c.3187-2A>C)	.	.	0.999969255906173	0.84
18	2777802	A	G	18	2777804	y	y	splicing	SMCHD1(NM_015295:exon43:c.5367-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5367-2A>G;ENST00000261598:exon43:c.5367-2A>G;ENST00000577880:exon32:c.3780-2A>G;ENST00000584897:exon28:c.3187-2A>G)	.	.	0.999969255906173	0.84
18	2777802	A	T	18	2777804	y	y	splicing	SMCHD1(NM_015295:exon43:c.5367-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5367-2A>T;ENST00000261598:exon43:c.5367-2A>T;ENST00000577880:exon32:c.3780-2A>T;ENST00000584897:exon28:c.3187-2A>T)	.	.	0.999969255906173	0.858
18	2777803	G	A	18	2777805	y	y	splicing	SMCHD1(NM_015295:exon43:c.5367-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5367-1G>A;ENST00000261598:exon43:c.5367-1G>A;ENST00000577880:exon32:c.3780-1G>A;ENST00000584897:exon28:c.3187-1G>A)	.	.	0.999965143305126	0.866
18	2777803	G	C	18	2777805	y	y	splicing	SMCHD1(NM_015295:exon43:c.5367-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5367-1G>C;ENST00000261598:exon43:c.5367-1G>C;ENST00000577880:exon32:c.3780-1G>C;ENST00000584897:exon28:c.3187-1G>C)	.	.	0.999965143305126	0.85
18	2777803	G	T	18	2777805	y	y	splicing	SMCHD1(NM_015295:exon43:c.5367-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5367-1G>T;ENST00000261598:exon43:c.5367-1G>T;ENST00000577880:exon32:c.3780-1G>T;ENST00000584897:exon28:c.3187-1G>T)	.	.	0.999965143305126	0.848
18	2777804	A	C	18	2777806	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.A5367C:p.R1789S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.A5367C:p.R1789S;ENSG00000101596:ENST00000577880:exon32:c.A3780C:p.R1260S;ENSG00000101596:ENST00000261598:exon43:c.A5367C:p.R1789S;	8.70492207529579E-4	0.04
18	2777804	A	G	18	2777806	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon43:c.A5367G:p.R1789R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.A5367G:p.R1789R;ENSG00000101596:ENST00000577880:exon32:c.A3780G:p.R1260R;ENSG00000101596:ENST00000261598:exon43:c.A5367G:p.R1789R;	8.0166410608088E-6	0.002
18	2777804	A	T	18	2777806	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.A5367T:p.R1789S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.A5367T:p.R1789S;ENSG00000101596:ENST00000577880:exon32:c.A3780T:p.R1260S;ENSG00000101596:ENST00000261598:exon43:c.A5367T:p.R1789S;	0.00189188917363947	0.144
18	2777805	T	A	18	2777807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.T5368A:p.S1790T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.T5368A:p.S1790T;ENSG00000101596:ENST00000577880:exon32:c.T3781A:p.S1261T;ENSG00000101596:ENST00000261598:exon43:c.T5368A:p.S1790T;	2.6141151984427E-4	0.008
18	2777805	T	C	18	2777807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.T5368C:p.S1790P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.T5368C:p.S1790P;ENSG00000101596:ENST00000577880:exon32:c.T3781C:p.S1261P;ENSG00000101596:ENST00000261598:exon43:c.T5368C:p.S1790P;	9.31317953206463E-5	0.01
18	2777805	T	G	18	2777807	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.T5368G:p.S1790A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.T5368G:p.S1790A;ENSG00000101596:ENST00000577880:exon32:c.T3781G:p.S1261A;ENSG00000101596:ENST00000261598:exon43:c.T5368G:p.S1790A;	3.83817869674171E-4	0.004
18	2777911	C	A	18	2777913	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.C5474A:p.T1825K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.C5474A:p.T1825K;ENSG00000101596:ENST00000577880:exon32:c.C3887A:p.T1296K;ENSG00000101596:ENST00000261598:exon43:c.C5474A:p.T1825K;	0.858529822713727	0.644
18	2777911	C	G	18	2777913	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.C5474G:p.T1825R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.C5474G:p.T1825R;ENSG00000101596:ENST00000577880:exon32:c.C3887G:p.T1296R;ENSG00000101596:ENST00000261598:exon43:c.C5474G:p.T1825R;	0.896814291728774	0.566
18	2777911	C	T	18	2777913	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.C5474T:p.T1825I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.C5474T:p.T1825I;ENSG00000101596:ENST00000577880:exon32:c.C3887T:p.T1296I;ENSG00000101596:ENST00000261598:exon43:c.C5474T:p.T1825I;	0.991697907939013	0.786
18	2777912	A	C	18	2777914	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon43:c.A5475C:p.T1825T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.A5475C:p.T1825T;ENSG00000101596:ENST00000577880:exon32:c.A3888C:p.T1296T;ENSG00000101596:ENST00000261598:exon43:c.A5475C:p.T1825T;	0.957009368826058	0.68
18	2777912	A	G	18	2777914	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon43:c.A5475G:p.T1825T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.A5475G:p.T1825T;ENSG00000101596:ENST00000577880:exon32:c.A3888G:p.T1296T;ENSG00000101596:ENST00000261598:exon43:c.A5475G:p.T1825T;	0.988670989109057	0.718
18	2777912	A	T	18	2777914	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon43:c.A5475T:p.T1825T;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.A5475T:p.T1825T;ENSG00000101596:ENST00000577880:exon32:c.A3888T:p.T1296T;ENSG00000101596:ENST00000261598:exon43:c.A5475T:p.T1825T;	0.989761935711341	0.768
18	2777913	G	A	18	2777915	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.G5476A:p.V1826I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.G5476A:p.V1826I;ENSG00000101596:ENST00000577880:exon32:c.G3889A:p.V1297I;ENSG00000101596:ENST00000261598:exon43:c.G5476A:p.V1826I;	0.999994807411868	1.0
18	2777913	G	C	18	2777915	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.G5476C:p.V1826L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.G5476C:p.V1826L;ENSG00000101596:ENST00000577880:exon32:c.G3889C:p.V1297L;ENSG00000101596:ENST00000261598:exon43:c.G5476C:p.V1826L;	0.999998312535482	1.0
18	2777913	G	T	18	2777915	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon43:c.G5476T:p.V1826L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon43:c.G5476T:p.V1826L;ENSG00000101596:ENST00000577880:exon32:c.G3889T:p.V1297L;ENSG00000101596:ENST00000261598:exon43:c.G5476T:p.V1826L;	0.999990846406755	0.982
18	2777914	G	A	18	2777916	y	y	splicing	SMCHD1(NM_015295:exon43:c.5476+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5476+1G>A;ENST00000261598:exon43:c.5476+1G>A;ENST00000577880:exon32:c.3889+1G>A;ENST00000584897:exon28:c.3296+1G>A)	.	.	0.999986675681007	0.936
18	2777914	G	C	18	2777916	y	y	splicing	SMCHD1(NM_015295:exon43:c.5476+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5476+1G>C;ENST00000261598:exon43:c.5476+1G>C;ENST00000577880:exon32:c.3889+1G>C;ENST00000584897:exon28:c.3296+1G>C)	.	.	0.999976137096505	0.936
18	2777914	G	T	18	2777916	y	y	splicing	SMCHD1(NM_015295:exon43:c.5476+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5476+1G>T;ENST00000261598:exon43:c.5476+1G>T;ENST00000577880:exon32:c.3889+1G>T;ENST00000584897:exon28:c.3296+1G>T)	.	.	0.999976137096505	0.938
18	2777915	T	A	18	2777917	y	y	splicing	SMCHD1(NM_015295:exon43:c.5476+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5476+2T>A;ENST00000261598:exon43:c.5476+2T>A;ENST00000577880:exon32:c.3889+2T>A;ENST00000584897:exon28:c.3296+2T>A)	.	.	0.999966203349492	0.926
18	2777915	T	C	18	2777917	y	y	splicing	SMCHD1(NM_015295:exon43:c.5476+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5476+2T>C;ENST00000261598:exon43:c.5476+2T>C;ENST00000577880:exon32:c.3889+2T>C;ENST00000584897:exon28:c.3296+2T>C)	.	.	0.996605676774939	0.654
18	2777915	T	G	18	2777917	y	y	splicing	SMCHD1(NM_015295:exon43:c.5476+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon43:c.5476+2T>G;ENST00000261598:exon43:c.5476+2T>G;ENST00000577880:exon32:c.3889+2T>G;ENST00000584897:exon28:c.3296+2T>G)	.	.	0.999966203349492	0.93
18	2777916	A	C	18	2777918	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999508679999856	0.912
18	2777916	A	G	18	2777918	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.918469204270503	0.584
18	2777916	A	T	18	2777918	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998894513492433	0.848
18	2777917	A	C	18	2777919	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.217975458416398	0.416
18	2777917	A	G	18	2777919	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.342150636368968	0.502
18	2777917	A	T	18	2777919	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.289652192410742	0.49
18	2777918	A	C	18	2777920	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00134715867062745	0.062
18	2777918	A	G	18	2777920	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.21308655633411E-4	0.074
18	2777918	A	T	18	2777920	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00163640428523992	0.06
18	2777919	A	C	18	2777921	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.53652986664014E-5	0.032
18	2777919	A	G	18	2777921	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.57240672198219E-6	0.0
18	2777919	A	T	18	2777921	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.606892621437E-6	0.0
18	2777920	G	A	18	2777922	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.68441631442313E-5	0.002
18	2777920	G	C	18	2777922	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.68441631442313E-5	0.002
18	2777920	G	T	18	2777922	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.92491882096596E-5	0.004
18	2777921	A	C	18	2777923	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.25859085301083E-4	0.0
18	2777921	A	G	18	2777923	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.65913405590462E-5	0.0
18	2777921	A	T	18	2777923	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.0802421859927E-5	0.0
18	2778155	T	A	18	2778157	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999971677526331	0.972
18	2778155	T	C	18	2778157	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.477410491867E-4	0.09
18	2778155	T	G	18	2778157	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.819812240639018	0.642
18	2778156	G	A	18	2778158	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.50329528861263E-5	0.0
18	2778156	G	C	18	2778158	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.07255952359218E-5	0.002
18	2778156	G	T	18	2778158	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.79386516090372E-5	0.064
18	2778157	A	C	18	2778159	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.70575550028054E-5	0.0
18	2778157	A	G	18	2778159	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.15957576010098E-5	0.0
18	2778157	A	T	18	2778159	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.39511826182286E-5	0.024
18	2778158	C	A	18	2778160	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00130650099619864	0.086
18	2778158	C	G	18	2778160	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999592821397496	0.928
18	2778158	C	T	18	2778160	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.15347373695037E-5	0.02
18	2778159	T	A	18	2778161	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00173109137819017	0.168
18	2778159	T	C	18	2778161	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.38710102486134E-6	0.008
18	2778159	T	G	18	2778161	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.04699353306455E-4	0.192
18	2778160	T	A	18	2778162	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0140972077871163	0.178
18	2778160	T	C	18	2778162	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.01023140270966E-4	0.056
18	2778160	T	G	18	2778162	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00881649676050967	0.192
18	2778161	T	A	18	2778163	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.882916534645603	0.52
18	2778161	T	C	18	2778163	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00138014658257501	0.082
18	2778161	T	G	18	2778163	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.828302729371292	0.504
18	2778162	T	A	18	2778164	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.993374325780833	0.736
18	2778162	T	C	18	2778164	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.113616304810488	0.276
18	2778162	T	G	18	2778164	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.989115736006483	0.718
18	2778163	T	A	18	2778165	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00903060755662007	0.078
18	2778163	T	C	18	2778165	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00138085401789161	0.028
18	2778163	T	G	18	2778165	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0109637390697204	0.078
18	2778164	T	A	18	2778166	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0026738428437551	0.276
18	2778164	T	C	18	2778166	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.45323681247737E-4	0.014
18	2778164	T	G	18	2778166	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.98646222568111	0.676
18	2778165	A	C	18	2778167	y	y	splicing	SMCHD1(NM_015295:exon44:c.5477-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5477-2A>C;ENST00000261598:exon44:c.5477-2A>C;ENST00000577880:exon33:c.3890-2A>C)	.	.	0.999991582404039	0.928
18	2778165	A	G	18	2778167	y	y	splicing	SMCHD1(NM_015295:exon44:c.5477-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5477-2A>G;ENST00000261598:exon44:c.5477-2A>G;ENST00000577880:exon33:c.3890-2A>G)	.	.	0.999991582404039	0.928
18	2778165	A	T	18	2778167	y	y	splicing	SMCHD1(NM_015295:exon44:c.5477-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5477-2A>T;ENST00000261598:exon44:c.5477-2A>T;ENST00000577880:exon33:c.3890-2A>T)	.	.	0.999993519952936	0.926
18	2778166	G	A	18	2778168	y	y	splicing	SMCHD1(NM_015295:exon44:c.5477-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5477-1G>A;ENST00000261598:exon44:c.5477-1G>A;ENST00000577880:exon33:c.3890-1G>A)	.	.	0.999988247793601	0.932
18	2778166	G	C	18	2778168	y	y	splicing	SMCHD1(NM_015295:exon44:c.5477-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5477-1G>C;ENST00000261598:exon44:c.5477-1G>C;ENST00000577880:exon33:c.3890-1G>C)	.	.	0.999988247793601	0.932
18	2778166	G	T	18	2778168	y	y	splicing	SMCHD1(NM_015295:exon44:c.5477-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5477-1G>T;ENST00000261598:exon44:c.5477-1G>T;ENST00000577880:exon33:c.3890-1G>T)	.	.	0.999988247793601	0.932
18	2778167	T	A	18	2778169	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.T5477A:p.V1826E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.T5477A:p.V1826E;ENSG00000101596:ENST00000577880:exon33:c.T3890A:p.V1297E;ENSG00000101596:ENST00000261598:exon44:c.T5477A:p.V1826E;	0.695390085687859	0.684
18	2778167	T	C	18	2778169	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.T5477C:p.V1826A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.T5477C:p.V1826A;ENSG00000101596:ENST00000577880:exon33:c.T3890C:p.V1297A;ENSG00000101596:ENST00000261598:exon44:c.T5477C:p.V1826A;	0.685450182907687	0.724
18	2778167	T	G	18	2778169	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.T5477G:p.V1826G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.T5477G:p.V1826G;ENSG00000101596:ENST00000577880:exon33:c.T3890G:p.V1297G;ENSG00000101596:ENST00000261598:exon44:c.T5477G:p.V1826G;	0.847022295539758	0.572
18	2778168	A	C	18	2778170	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon44:c.A5478C:p.V1826V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.A5478C:p.V1826V;ENSG00000101596:ENST00000577880:exon33:c.A3891C:p.V1297V;ENSG00000101596:ENST00000261598:exon44:c.A5478C:p.V1826V;	1.81689692273515E-4	0.006
18	2778168	A	G	18	2778170	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon44:c.A5478G:p.V1826V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.A5478G:p.V1826V;ENSG00000101596:ENST00000577880:exon33:c.A3891G:p.V1297V;ENSG00000101596:ENST00000261598:exon44:c.A5478G:p.V1826V;	1.10030438076506E-4	0.018
18	2778168	A	T	18	2778170	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon44:c.A5478T:p.V1826V;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.A5478T:p.V1826V;ENSG00000101596:ENST00000577880:exon33:c.A3891T:p.V1297V;ENSG00000101596:ENST00000261598:exon44:c.A5478T:p.V1826V;	5.23867110250371E-5	0.004
18	2778235	G	A	18	2778237	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.G5545A:p.E1849K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.G5545A:p.E1849K;ENSG00000101596:ENST00000577880:exon33:c.G3958A:p.E1320K;ENSG00000101596:ENST00000261598:exon44:c.G5545A:p.E1849K;	0.901300498731889	0.624
18	2778235	G	C	18	2778237	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.G5545C:p.E1849Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.G5545C:p.E1849Q;ENSG00000101596:ENST00000577880:exon33:c.G3958C:p.E1320Q;ENSG00000101596:ENST00000261598:exon44:c.G5545C:p.E1849Q;	0.38853047097118	0.474
18	2778235	G	T	18	2778237	y	y	exonic	SMCHD1	stopgain SNV	SMCHD1:NM_015295:exon44:c.G5545T:p.E1849X;	exonic	ENSG00000101596	stopgain SNV	ENSG00000101596:ENST00000320876:exon44:c.G5545T:p.E1849X;ENSG00000101596:ENST00000577880:exon33:c.G3958T:p.E1320X;ENSG00000101596:ENST00000261598:exon44:c.G5545T:p.E1849X;	0.944614907810642	0.724
18	2778236	A	C	18	2778238	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.A5546C:p.E1849A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.A5546C:p.E1849A;ENSG00000101596:ENST00000577880:exon33:c.A3959C:p.E1320A;ENSG00000101596:ENST00000261598:exon44:c.A5546C:p.E1849A;	0.990161813270964	0.894
18	2778236	A	G	18	2778238	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.A5546G:p.E1849G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.A5546G:p.E1849G;ENSG00000101596:ENST00000577880:exon33:c.A3959G:p.E1320G;ENSG00000101596:ENST00000261598:exon44:c.A5546G:p.E1849G;	0.99646175760365	0.898
18	2778236	A	T	18	2778238	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.A5546T:p.E1849V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.A5546T:p.E1849V;ENSG00000101596:ENST00000577880:exon33:c.A3959T:p.E1320V;ENSG00000101596:ENST00000261598:exon44:c.A5546T:p.E1849V;	0.995684526485752	0.818
18	2778237	G	A	18	2778239	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon44:c.G5547A:p.E1849E;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.G5547A:p.E1849E;ENSG00000101596:ENST00000577880:exon33:c.G3960A:p.E1320E;ENSG00000101596:ENST00000261598:exon44:c.G5547A:p.E1849E;	0.996765047835249	0.814
18	2778237	G	C	18	2778239	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.G5547C:p.E1849D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.G5547C:p.E1849D;ENSG00000101596:ENST00000577880:exon33:c.G3960C:p.E1320D;ENSG00000101596:ENST00000261598:exon44:c.G5547C:p.E1849D;	0.999950898397785	0.962
18	2778237	G	T	18	2778239	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon44:c.G5547T:p.E1849D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon44:c.G5547T:p.E1849D;ENSG00000101596:ENST00000577880:exon33:c.G3960T:p.E1320D;ENSG00000101596:ENST00000261598:exon44:c.G5547T:p.E1849D;	0.999699417620393	0.964
18	2778238	G	A	18	2778240	y	y	splicing	SMCHD1(NM_015295:exon44:c.5547+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5547+1G>A;ENST00000261598:exon44:c.5547+1G>A;ENST00000577880:exon33:c.3960+1G>A)	.	.	0.999988247793601	0.932
18	2778238	G	C	18	2778240	y	y	splicing	SMCHD1(NM_015295:exon44:c.5547+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5547+1G>C;ENST00000261598:exon44:c.5547+1G>C;ENST00000577880:exon33:c.3960+1G>C)	.	.	0.999988247793601	0.932
18	2778238	G	T	18	2778240	y	y	splicing	SMCHD1(NM_015295:exon44:c.5547+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5547+1G>T;ENST00000261598:exon44:c.5547+1G>T;ENST00000577880:exon33:c.3960+1G>T)	.	.	0.999988247793601	0.932
18	2778239	T	A	18	2778241	y	y	splicing	SMCHD1(NM_015295:exon44:c.5547+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5547+2T>A;ENST00000261598:exon44:c.5547+2T>A;ENST00000577880:exon33:c.3960+2T>A)	.	.	0.999991582404039	0.928
18	2778239	T	C	18	2778241	y	y	splicing	SMCHD1(NM_015295:exon44:c.5547+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5547+2T>C;ENST00000261598:exon44:c.5547+2T>C;ENST00000577880:exon33:c.3960+2T>C)	.	.	0.98848872893457	0.63
18	2778239	T	G	18	2778241	y	y	splicing	SMCHD1(NM_015295:exon44:c.5547+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon44:c.5547+2T>G;ENST00000261598:exon44:c.5547+2T>G;ENST00000577880:exon33:c.3960+2T>G)	.	.	0.999978278263889	0.926
18	2778240	A	C	18	2778242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.994657155832073	0.662
18	2778240	A	G	18	2778242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0761817498858555	0.502
18	2778240	A	T	18	2778242	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.880102086824275	0.608
18	2778241	T	A	18	2778243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.44397559174365E-4	0.062
18	2778241	T	C	18	2778243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.37384151960035E-4	0.004
18	2778241	T	G	18	2778243	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.39354772493986E-4	0.0
18	2778242	G	A	18	2778244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.56342386410873	0.532
18	2778242	G	C	18	2778244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.824045241182647	0.556
18	2778242	G	T	18	2778244	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.354200779504557	0.488
18	2778243	T	A	18	2778245	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0705616715269938	0.29
18	2778243	T	C	18	2778245	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.14065885085642	0.39
18	2778243	T	G	18	2778245	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0218109912129815	0.234
18	2778244	A	C	18	2778246	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.37501361942679E-5	0.002
18	2778244	A	G	18	2778246	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.1124933177438E-5	0.002
18	2778244	A	T	18	2778246	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.20040625896765E-5	0.0
18	2778245	T	A	18	2778247	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.89484418870929E-5	0.0
18	2778245	T	C	18	2778247	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.00626524137783E-5	0.002
18	2778245	T	G	18	2778247	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68284073685752E-5	0.002
18	2784436	T	A	18	2784438	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.503797493095107	0.636
18	2784436	T	C	18	2784438	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.75872526186631E-4	0.052
18	2784436	T	G	18	2784438	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0188873162555434	0.354
18	2784437	A	C	18	2784439	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.79663161831623E-4	0.0
18	2784437	A	G	18	2784439	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.0884905674643E-4	0.002
18	2784437	A	T	18	2784439	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00121985674322695	0.124
18	2784438	T	A	18	2784440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0345003694130791	0.174
18	2784438	T	C	18	2784440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.20855714019127E-4	0.016
18	2784438	T	G	18	2784440	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.995675267812266	0.844
18	2784439	T	A	18	2784441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0485136748628861	0.238
18	2784439	T	C	18	2784441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.46812764582379E-4	0.018
18	2784439	T	G	18	2784441	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0144839716308006	0.194
18	2784440	T	A	18	2784442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0206196323347265	0.166
18	2784440	T	C	18	2784442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.97431146030083E-5	0.0
18	2784440	T	G	18	2784442	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.257097288385759	0.45
18	2784441	A	C	18	2784443	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.31845794617121E-4	0.004
18	2784441	A	G	18	2784443	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68999159844542E-4	0.0
18	2784441	A	T	18	2784443	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.31845794617121E-4	0.002
18	2784442	C	A	18	2784444	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00748499863181365	0.16
18	2784442	C	G	18	2784444	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998732515094349	0.92
18	2784442	C	T	18	2784444	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.20191745158811E-5	0.002
18	2784443	A	C	18	2784445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.1107749880066E-5	0.0
18	2784443	A	G	18	2784445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.75442511447775E-5	0.01
18	2784443	A	T	18	2784445	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.30161229019845E-4	0.02
18	2784444	A	C	18	2784446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.86392189353244E-5	0.014
18	2784444	A	G	18	2784446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998523968593883	0.974
18	2784444	A	T	18	2784446	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.535395249329E-5	0.008
18	2784445	T	A	18	2784447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.572681514154975	0.496
18	2784445	T	C	18	2784447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.09092395653733E-4	0.138
18	2784445	T	G	18	2784447	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998679872310585	0.762
18	2784446	A	C	18	2784448	y	y	splicing	SMCHD1(NM_015295:exon45:c.5548-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5548-2A>C;ENST00000261598:exon45:c.5548-2A>C;ENST00000577880:exon34:c.3961-2A>C;ENST00000584897:exon29:c.3297-2A>C)	.	.	0.999966514958823	0.938
18	2784446	A	G	18	2784448	y	y	splicing	SMCHD1(NM_015295:exon45:c.5548-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5548-2A>G;ENST00000261598:exon45:c.5548-2A>G;ENST00000577880:exon34:c.3961-2A>G;ENST00000584897:exon29:c.3297-2A>G)	.	.	0.999966514958823	0.938
18	2784446	A	T	18	2784448	y	y	splicing	SMCHD1(NM_015295:exon45:c.5548-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5548-2A>T;ENST00000261598:exon45:c.5548-2A>T;ENST00000577880:exon34:c.3961-2A>T;ENST00000584897:exon29:c.3297-2A>T)	.	.	0.999966203349492	0.938
18	2784447	G	A	18	2784449	y	y	splicing	SMCHD1(NM_015295:exon45:c.5548-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5548-1G>A;ENST00000261598:exon45:c.5548-1G>A;ENST00000577880:exon34:c.3961-1G>A;ENST00000584897:exon29:c.3297-1G>A)	.	.	0.999938422912956	0.944
18	2784447	G	C	18	2784449	y	y	splicing	SMCHD1(NM_015295:exon45:c.5548-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5548-1G>C;ENST00000261598:exon45:c.5548-1G>C;ENST00000577880:exon34:c.3961-1G>C;ENST00000584897:exon29:c.3297-1G>C)	.	.	0.999938422912956	0.948
18	2784447	G	T	18	2784449	y	y	splicing	SMCHD1(NM_015295:exon45:c.5548-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5548-1G>T;ENST00000261598:exon45:c.5548-1G>T;ENST00000577880:exon34:c.3961-1G>T;ENST00000584897:exon29:c.3297-1G>T)	.	.	0.999938422912956	0.944
18	2784448	G	A	18	2784450	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.G5548A:p.V1850I;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.G5548A:p.V1850I;ENSG00000101596:ENST00000577880:exon34:c.G3961A:p.V1321I;ENSG00000101596:ENST00000261598:exon45:c.G5548A:p.V1850I;	0.999294797005371	0.874
18	2784448	G	C	18	2784450	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.G5548C:p.V1850L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.G5548C:p.V1850L;ENSG00000101596:ENST00000577880:exon34:c.G3961C:p.V1321L;ENSG00000101596:ENST00000261598:exon45:c.G5548C:p.V1850L;	0.997787963671838	0.746
18	2784448	G	T	18	2784450	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.G5548T:p.V1850F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.G5548T:p.V1850F;ENSG00000101596:ENST00000577880:exon34:c.G3961T:p.V1321F;ENSG00000101596:ENST00000261598:exon45:c.G5548T:p.V1850F;	0.999931939641387	0.996
18	2784449	T	A	18	2784451	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.T5549A:p.V1850D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.T5549A:p.V1850D;ENSG00000101596:ENST00000577880:exon34:c.T3962A:p.V1321D;ENSG00000101596:ENST00000261598:exon45:c.T5549A:p.V1850D;	0.237875279263034	0.356
18	2784449	T	C	18	2784451	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.T5549C:p.V1850A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.T5549C:p.V1850A;ENSG00000101596:ENST00000577880:exon34:c.T3962C:p.V1321A;ENSG00000101596:ENST00000261598:exon45:c.T5549C:p.V1850A;	0.370286523598346	0.438
18	2784449	T	G	18	2784451	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.T5549G:p.V1850G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.T5549G:p.V1850G;ENSG00000101596:ENST00000577880:exon34:c.T3962G:p.V1321G;ENSG00000101596:ENST00000261598:exon45:c.T5549G:p.V1850G;	0.261395689393399	0.324
18	2784617	T	A	18	2784619	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.T5717A:p.I1906K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.T5717A:p.I1906K;ENSG00000101596:ENST00000577880:exon34:c.T4130A:p.I1377K;ENSG00000101596:ENST00000261598:exon45:c.T5717A:p.I1906K;	0.43794911471721	0.646
18	2784617	T	C	18	2784619	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.T5717C:p.I1906T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.T5717C:p.I1906T;ENSG00000101596:ENST00000577880:exon34:c.T4130C:p.I1377T;ENSG00000101596:ENST00000261598:exon45:c.T5717C:p.I1906T;	0.020203076634369	0.312
18	2784617	T	G	18	2784619	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.T5717G:p.I1906R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.T5717G:p.I1906R;ENSG00000101596:ENST00000577880:exon34:c.T4130G:p.I1377R;ENSG00000101596:ENST00000261598:exon45:c.T5717G:p.I1906R;	0.593150106316272	0.618
18	2784618	A	C	18	2784620	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon45:c.A5718C:p.I1906I;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.A5718C:p.I1906I;ENSG00000101596:ENST00000577880:exon34:c.A4131C:p.I1377I;ENSG00000101596:ENST00000261598:exon45:c.A5718C:p.I1906I;	0.388775560747797	0.568
18	2784618	A	G	18	2784620	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.A5718G:p.I1906M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.A5718G:p.I1906M;ENSG00000101596:ENST00000577880:exon34:c.A4131G:p.I1377M;ENSG00000101596:ENST00000261598:exon45:c.A5718G:p.I1906M;	0.663714649875533	0.592
18	2784618	A	T	18	2784620	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon45:c.A5718T:p.I1906I;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.A5718T:p.I1906I;ENSG00000101596:ENST00000577880:exon34:c.A4131T:p.I1377I;ENSG00000101596:ENST00000261598:exon45:c.A5718T:p.I1906I;	0.132691907227168	0.446
18	2784619	G	A	18	2784621	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.G5719A:p.D1907N;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.G5719A:p.D1907N;ENSG00000101596:ENST00000577880:exon34:c.G4132A:p.V1378M;ENSG00000101596:ENST00000261598:exon45:c.G5719A:p.V1907M;	0.999932169919095	0.946
18	2784619	G	C	18	2784621	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.G5719C:p.D1907H;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.G5719C:p.D1907H;ENSG00000101596:ENST00000577880:exon34:c.G4132C:p.V1378L;ENSG00000101596:ENST00000261598:exon45:c.G5719C:p.V1907L;	0.998813698200902	0.936
18	2784619	G	T	18	2784621	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon45:c.G5719T:p.D1907Y;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon45:c.G5719T:p.D1907Y;ENSG00000101596:ENST00000577880:exon34:c.G4132T:p.V1378L;ENSG00000101596:ENST00000261598:exon45:c.G5719T:p.V1907L;	0.999472412634819	0.952
18	2784620	G	A	18	2784622	y	y	splicing	SMCHD1(NM_015295:exon45:c.5719+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5719+1G>A;ENST00000261598:exon45:c.5719+1G>A;ENST00000577880:exon34:c.4132+1G>A;ENST00000584897:exon29:c.3468+1G>A)	.	.	0.999986675681007	0.932
18	2784620	G	C	18	2784622	y	y	splicing	SMCHD1(NM_015295:exon45:c.5719+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5719+1G>C;ENST00000261598:exon45:c.5719+1G>C;ENST00000577880:exon34:c.4132+1G>C;ENST00000584897:exon29:c.3468+1G>C)	.	.	0.999986675681007	0.932
18	2784620	G	T	18	2784622	y	y	splicing	SMCHD1(NM_015295:exon45:c.5719+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5719+1G>T;ENST00000261598:exon45:c.5719+1G>T;ENST00000577880:exon34:c.4132+1G>T;ENST00000584897:exon29:c.3468+1G>T)	.	.	0.999986675681007	0.932
18	2784621	T	A	18	2784623	y	y	splicing	SMCHD1(NM_015295:exon45:c.5719+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5719+2T>A;ENST00000261598:exon45:c.5719+2T>A;ENST00000577880:exon34:c.4132+2T>A;ENST00000584897:exon29:c.3468+2T>A)	.	.	0.999966203349492	0.94
18	2784621	T	C	18	2784623	y	y	splicing	SMCHD1(NM_015295:exon45:c.5719+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5719+2T>C;ENST00000261598:exon45:c.5719+2T>C;ENST00000577880:exon34:c.4132+2T>C;ENST00000584897:exon29:c.3468+2T>C)	.	.	0.97068866427188	0.654
18	2784621	T	G	18	2784623	y	y	splicing	SMCHD1(NM_015295:exon45:c.5719+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon45:c.5719+2T>G;ENST00000261598:exon45:c.5719+2T>G;ENST00000577880:exon34:c.4132+2T>G;ENST00000584897:exon29:c.3468+2T>G)	.	.	0.999966203349492	0.944
18	2784622	A	C	18	2784624	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.971328162522672	0.672
18	2784622	A	G	18	2784624	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0706660428253333	0.186
18	2784622	A	T	18	2784624	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.971893504117408	0.666
18	2784623	A	C	18	2784625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0509444948093145	0.272
18	2784623	A	G	18	2784625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0847149090802748	0.302
18	2784623	A	T	18	2784625	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0614772742267615	0.262
18	2784624	G	A	18	2784626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.900561318825669	0.784
18	2784624	G	C	18	2784626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.889780710465568	0.72
18	2784624	G	T	18	2784626	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.870096436420561	0.7
18	2784625	T	A	18	2784627	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00100082061534384	0.03
18	2784625	T	C	18	2784627	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.65157812924344E-4	0.036
18	2784625	T	G	18	2784627	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.35645654994394E-4	0.034
18	2784626	T	A	18	2784628	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.36411379079871E-5	0.0
18	2784626	T	C	18	2784628	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.31671506638536E-5	0.0
18	2784626	T	G	18	2784628	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.12967705479703E-5	0.0
18	2784627	G	A	18	2784629	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.88014054966508E-5	0.0
18	2784627	G	C	18	2784629	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.88014054966508E-5	0.0
18	2784627	G	T	18	2784629	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.88014054966508E-5	0.0
18	2784831	T	A	18	2784833	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.4243997895107E-5	0.01
18	2784831	T	C	18	2784833	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.4243997895107E-5	0.006
18	2784831	T	G	18	2784833	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.4243997895107E-5	0.006
18	2784832	C	A	18	2784834	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.01559384236425E-5	0.0
18	2784832	C	G	18	2784834	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.41215694109E-6	0.0
18	2784832	C	T	18	2784834	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.11572536392484E-5	0.006
18	2784833	T	A	18	2784835	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.42544334184685E-5	0.008
18	2784833	T	C	18	2784835	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71486889510802E-5	0.0
18	2784833	T	G	18	2784835	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71486889510802E-5	0.0
18	2784834	T	A	18	2784836	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.54291542054858E-4	0.004
18	2784834	T	C	18	2784836	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.54291542054858E-4	0.006
18	2784834	T	G	18	2784836	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.54291542054858E-4	0.01
18	2784835	A	C	18	2784837	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26718658278921E-5	0.002
18	2784835	A	G	18	2784837	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26718658278921E-5	0.002
18	2784835	A	T	18	2784837	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26718658278921E-5	0.002
18	2784836	T	A	18	2784838	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.45277156108894E-5	0.0
18	2784836	T	C	18	2784838	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.45277156108894E-5	0.0
18	2784836	T	G	18	2784838	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.45277156108894E-5	0.0
18	2784837	A	C	18	2784839	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26718658278921E-5	0.002
18	2784837	A	G	18	2784839	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26718658278921E-5	0.002
18	2784837	A	T	18	2784839	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26718658278921E-5	0.002
18	2784838	T	A	18	2784840	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.014
18	2784838	T	C	18	2784840	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.012
18	2784838	T	G	18	2784840	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.012
18	2784839	G	A	18	2784841	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.04290327727273E-6	0.002
18	2784839	G	C	18	2784841	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.28765212796676E-5	0.002
18	2784839	G	T	18	2784841	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.04290327727273E-6	0.002
18	2784840	T	A	18	2784842	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.02
18	2784840	T	C	18	2784842	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.022
18	2784840	T	G	18	2784842	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.57123356397867E-5	0.02
18	2784841	A	C	18	2784843	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000261598:exon46:c.5720-2A>C;ENST00000577880:exon35:c.4133-2A>C)	.	.	3.31929338280547E-5	0.0
18	2784841	A	G	18	2784843	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000261598:exon46:c.5720-2A>G;ENST00000577880:exon35:c.4133-2A>G)	.	.	3.07620641825897E-5	0.0
18	2784841	A	T	18	2784843	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000261598:exon46:c.5720-2A>T;ENST00000577880:exon35:c.4133-2A>T)	.	.	3.78205327723092E-5	0.008
18	2784842	G	A	18	2784844	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000261598:exon46:c.5720-1G>A;ENST00000577880:exon35:c.4133-1G>A)	.	.	2.45277156108894E-5	0.0
18	2784842	G	C	18	2784844	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000261598:exon46:c.5720-1G>C;ENST00000577880:exon35:c.4133-1G>C)	.	.	2.45277156108894E-5	0.0
18	2784842	G	T	18	2784844	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000261598:exon46:c.5720-1G>T;ENST00000577880:exon35:c.4133-1G>T)	.	.	2.45277156108894E-5	0.0
18	2784843	T	A	18	2784845	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000577880:exon35:c.T4133A:p.V1378E;ENSG00000101596:ENST00000261598:exon46:c.T5720A:p.V1907E;	8.49702646665041E-5	0.006
18	2784843	T	C	18	2784845	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000577880:exon35:c.T4133C:p.V1378A;ENSG00000101596:ENST00000261598:exon46:c.T5720C:p.V1907A;	6.6236404416856E-5	0.014
18	2784843	T	G	18	2784845	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000577880:exon35:c.T4133G:p.V1378G;ENSG00000101596:ENST00000261598:exon46:c.T5720G:p.V1907G;	2.45277156108894E-5	0.002
18	2784844	G	A	18	2784846	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000577880:exon35:c.G4134A:p.V1378V;ENSG00000101596:ENST00000261598:exon46:c.G5721A:p.V1907V;	1.99153316237132E-5	0.0
18	2784844	G	C	18	2784846	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000577880:exon35:c.G4134C:p.V1378V;ENSG00000101596:ENST00000261598:exon46:c.G5721C:p.V1907V;	1.99153316237132E-5	0.0
18	2784844	G	T	18	2784846	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000577880:exon35:c.G4134T:p.V1378V;ENSG00000101596:ENST00000261598:exon46:c.G5721T:p.V1907V;	1.99153316237132E-5	0.0
18	2784983	T	A	18	2784985	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.36940056884885E-5	0.002
18	2784983	T	C	18	2784985	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.36940056884885E-5	0.002
18	2784983	T	G	18	2784985	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.36940056884885E-5	0.002
18	2784984	A	C	18	2784986	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.99153316237132E-5	0.0
18	2784984	A	G	18	2784986	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	1.99153316237132E-5	0.0
18	2784984	A	T	18	2784986	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	3.07620641825897E-5	0.004
18	2784985	A	C	18	2784987	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.02885091851015E-4	0.046
18	2784985	A	G	18	2784987	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	2.02885091851015E-4	0.046
18	2784985	A	T	18	2784987	n	y	intronic	SMCHD1	.	.	ncRNA_UTR3	ENSG00000101596	.	.	4.81456590373184E-4	0.05
18	2784986	G	A	18	2784988	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000577880:exon35:c.4275+1G>A)	.	.	7.42544334184685E-5	0.006
18	2784986	G	C	18	2784988	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000577880:exon35:c.4275+1G>C)	.	.	1.58927937202005E-5	0.002
18	2784986	G	T	18	2784988	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000577880:exon35:c.4275+1G>T)	.	.	1.71486889510802E-5	0.004
18	2784987	T	A	18	2784989	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000577880:exon35:c.4275+2T>A)	.	.	2.63360899965148E-5	0.002
18	2784987	T	C	18	2784989	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000577880:exon35:c.4275+2T>C)	.	.	2.63360899965148E-5	0.002
18	2784987	T	G	18	2784989	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000577880:exon35:c.4275+2T>G)	.	.	2.63360899965148E-5	0.002
18	2784988	C	A	18	2784990	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2784988	C	G	18	2784990	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2784988	C	T	18	2784990	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2784989	A	C	18	2784991	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.052
18	2784989	A	G	18	2784991	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.052
18	2784989	A	T	18	2784991	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.056
18	2784990	G	A	18	2784992	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68284073685752E-5	0.002
18	2784990	G	C	18	2784992	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.73686617846189E-5	0.002
18	2784990	G	T	18	2784992	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.73686617846189E-5	0.002
18	2784991	T	A	18	2784993	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.058
18	2784991	T	C	18	2784993	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.054
18	2784991	T	G	18	2784993	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.054
18	2784992	A	C	18	2784994	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.054
18	2784992	A	G	18	2784994	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.054
18	2784992	A	T	18	2784994	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.02885091851015E-4	0.054
18	2784993	T	A	18	2784995	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0086839819578E-5	0.0
18	2784993	T	C	18	2784995	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0086839819578E-5	0.0
18	2784993	T	G	18	2784995	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0086839819578E-5	0.0
18	2795935	G	A	18	2795937	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.3202918147741E-5	0.002
18	2795935	G	C	18	2795937	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.58498971821349E-5	0.004
18	2795935	G	T	18	2795937	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.51052055688095E-5	0.002
18	2795936	T	A	18	2795938	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.165099243316833	0.446
18	2795936	T	C	18	2795938	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00510572550290644	0.146
18	2795936	T	G	18	2795938	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.435221318426526	0.484
18	2795937	T	A	18	2795939	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.146081070903951	0.444
18	2795937	T	C	18	2795939	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.17164828698387E-4	0.036
18	2795937	T	G	18	2795939	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0529487361431626	0.348
18	2795938	T	A	18	2795940	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0074949071932673	0.13
18	2795938	T	C	18	2795940	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0478549769386E-4	0.0
18	2795938	T	G	18	2795940	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00244938469337878	0.084
18	2795939	C	A	18	2795941	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.79033484231766E-4	0.11
18	2795939	C	G	18	2795941	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.85614137122319E-5	0.062
18	2795939	C	T	18	2795941	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.06078731159767E-5	0.04
18	2795940	T	A	18	2795942	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00609513743605732	0.322
18	2795940	T	C	18	2795942	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.95429820930508E-5	0.022
18	2795940	T	G	18	2795942	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00265913773664878	0.3
18	2795941	T	A	18	2795943	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00751159754017719	0.344
18	2795941	T	C	18	2795943	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.1847283431478E-5	0.006
18	2795941	T	G	18	2795943	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0182732615576326	0.364
18	2795942	T	A	18	2795944	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.078946763251633	0.48
18	2795942	T	C	18	2795944	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.84559158715874E-5	0.024
18	2795942	T	G	18	2795944	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.103570631867052	0.48
18	2795943	A	C	18	2795945	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.71276293310991E-5	0.004
18	2795943	A	G	18	2795945	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.91874914875451E-5	0.0
18	2795943	A	T	18	2795945	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.60379033444725E-5	0.0
18	2795944	C	A	18	2795946	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.11851856702885	0.412
18	2795944	C	G	18	2795946	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999504372450497	0.916
18	2795944	C	T	18	2795946	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.65485042921104E-4	0.206
18	2795945	A	C	18	2795947	y	y	splicing	SMCHD1(NM_015295:exon46:c.5720-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5720-2A>C;ENST00000577880:exon36:c.4276-2A>C;ENST00000584897:exon30:c.3469-2A>C)	.	.	0.999980255680118	0.742
18	2795945	A	G	18	2795947	y	y	splicing	SMCHD1(NM_015295:exon46:c.5720-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5720-2A>G;ENST00000577880:exon36:c.4276-2A>G;ENST00000584897:exon30:c.3469-2A>G)	.	.	0.999980255680118	0.74
18	2795945	A	T	18	2795947	y	y	splicing	SMCHD1(NM_015295:exon46:c.5720-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5720-2A>T;ENST00000577880:exon36:c.4276-2A>T;ENST00000584897:exon30:c.3469-2A>T)	.	.	0.999980255680118	0.776
18	2795946	G	A	18	2795948	y	y	splicing	SMCHD1(NM_015295:exon46:c.5720-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5720-1G>A;ENST00000577880:exon36:c.4276-1G>A;ENST00000584897:exon30:c.3469-1G>A)	.	.	0.999975694284506	0.81
18	2795946	G	C	18	2795948	y	y	splicing	SMCHD1(NM_015295:exon46:c.5720-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5720-1G>C;ENST00000577880:exon36:c.4276-1G>C;ENST00000584897:exon30:c.3469-1G>C)	.	.	0.999975694284506	0.764
18	2795946	G	T	18	2795948	y	y	splicing	SMCHD1(NM_015295:exon46:c.5720-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5720-1G>T;ENST00000577880:exon36:c.4276-1G>T;ENST00000584897:exon30:c.3469-1G>T)	.	.	0.999975694284506	0.798
18	2795947	A	C	18	2795949	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.A5720C:p.D1907A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.A5720C:p.D1907A;	0.00396589445115189	0.06
18	2795947	A	G	18	2795949	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.A5720G:p.D1907G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.A5720G:p.D1907G;	9.36730782368128E-4	0.018
18	2795947	A	T	18	2795949	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.A5720T:p.D1907V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.A5720T:p.D1907V;	0.00833295713781297	0.116
18	2795948	T	A	18	2795950	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.T5721A:p.D1907E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.T5721A:p.D1907E;	1.30939616371271E-4	0.004
18	2795948	T	C	18	2795950	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon46:c.T5721C:p.D1907D;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.T5721C:p.D1907D;	7.69009444339959E-5	0.01
18	2795948	T	G	18	2795950	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.T5721G:p.D1907E;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.T5721G:p.D1907E;	7.5001064526664E-5	0.002
18	2796103	T	A	18	2796105	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.T5876A:p.L1959Q;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.T5876A:p.L1959Q;	6.6456741118785E-5	0.004
18	2796103	T	C	18	2796105	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.T5876C:p.L1959P;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.T5876C:p.L1959P;	4.66085053245242E-5	0.002
18	2796103	T	G	18	2796105	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.T5876G:p.L1959R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.T5876G:p.L1959R;	1.67563013112417E-4	0.024
18	2796104	A	C	18	2796106	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon46:c.A5877C:p.L1959L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.A5877C:p.L1959L;	0.0216390882479099	0.45
18	2796104	A	G	18	2796106	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon46:c.A5877G:p.L1959L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.A5877G:p.L1959L;	0.0309917410807133	0.298
18	2796104	A	T	18	2796106	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon46:c.A5877T:p.L1959L;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.A5877T:p.L1959L;	0.0353908845060386	0.396
18	2796105	G	A	18	2796107	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.G5878A:p.G1960S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.G5878A:p.G1960S;	0.247933129597548	0.364
18	2796105	G	C	18	2796107	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.G5878C:p.G1960R;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.G5878C:p.G1960R;	0.366879395385713	0.484
18	2796105	G	T	18	2796107	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.G5878T:p.G1960C;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon46:c.G5878T:p.G1960C;	0.636718951151113	0.528
18	2796106	G	A	18	2796108	y	y	splicing	SMCHD1(NM_015295:exon46:c.5878+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5878+1G>A;ENST00000577880:exon36:c.4434+1G>A;ENST00000584897:exon30:c.3627+1G>A;ENST00000583800:exon1:c.9+1G>A)	.	.	0.999980795553335	0.77
18	2796106	G	C	18	2796108	y	y	splicing	SMCHD1(NM_015295:exon46:c.5878+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5878+1G>C;ENST00000577880:exon36:c.4434+1G>C;ENST00000584897:exon30:c.3627+1G>C;ENST00000583800:exon1:c.9+1G>C)	.	.	0.99998692511496	0.774
18	2796106	G	T	18	2796108	y	y	splicing	SMCHD1(NM_015295:exon46:c.5878+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5878+1G>T;ENST00000577880:exon36:c.4434+1G>T;ENST00000584897:exon30:c.3627+1G>T;ENST00000583800:exon1:c.9+1G>T)	.	.	0.99998692511496	0.772
18	2796107	T	A	18	2796109	y	y	splicing	SMCHD1(NM_015295:exon46:c.5878+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5878+2T>A;ENST00000577880:exon36:c.4434+2T>A;ENST00000584897:exon30:c.3627+2T>A;ENST00000583800:exon1:c.9+2T>A)	.	.	0.999984399620937	0.752
18	2796107	T	C	18	2796109	y	y	splicing	SMCHD1(NM_015295:exon46:c.5878+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5878+2T>C;ENST00000577880:exon36:c.4434+2T>C;ENST00000584897:exon30:c.3627+2T>C;ENST00000583800:exon1:c.9+2T>C)	.	.	0.916223517375126	0.508
18	2796107	T	G	18	2796109	y	y	splicing	SMCHD1(NM_015295:exon46:c.5878+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon46:c.5878+2T>G;ENST00000577880:exon36:c.4434+2T>G;ENST00000584897:exon30:c.3627+2T>G;ENST00000583800:exon1:c.9+2T>G)	.	.	0.999989378869813	0.756
18	2796108	A	C	18	2796110	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.144444803896656	0.294
18	2796108	A	G	18	2796110	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.4453820762166E-4	0.004
18	2796108	A	T	18	2796110	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0775126294961183	0.278
18	2796109	A	C	18	2796111	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0226862409088891	0.304
18	2796109	A	G	18	2796111	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0255886162586901	0.314
18	2796109	A	T	18	2796111	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0483036689354917	0.308
18	2796110	G	A	18	2796112	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.485095983596113	0.464
18	2796110	G	C	18	2796112	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.685988557383396	0.496
18	2796110	G	T	18	2796112	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.468088839156762	0.424
18	2796111	T	A	18	2796113	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00142287832228016	0.082
18	2796111	T	C	18	2796113	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00189020867277486	0.068
18	2796111	T	G	18	2796113	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.44966338345558E-4	0.058
18	2796112	C	A	18	2796114	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.58374763810847E-5	0.0
18	2796112	C	G	18	2796114	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.32129412785724E-5	0.018
18	2796112	C	T	18	2796114	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.58374763810847E-5	0.018
18	2796113	T	A	18	2796115	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.74871393842538E-5	0.0
18	2796113	T	C	18	2796115	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.96362767612027E-5	0.0
18	2796113	T	G	18	2796115	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.47417964438883E-5	0.0
18	2796393	C	A	18	2796395	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.00896050330746E-4	0.06
18	2796393	C	G	18	2796395	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.76168415613424E-4	0.012
18	2796393	C	T	18	2796395	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.27710111284455E-5	0.0
18	2796394	C	A	18	2796396	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.57453700689348E-5	0.004
18	2796394	C	G	18	2796396	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.47074265059664E-5	0.004
18	2796394	C	T	18	2796396	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.91266145916482E-5	0.0
18	2796395	A	C	18	2796397	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.99445471318997E-5	0.0
18	2796395	A	G	18	2796397	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.42349448296749E-5	0.002
18	2796395	A	T	18	2796397	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.21670231868576E-5	0.0
18	2796396	T	A	18	2796398	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00445455021259697	0.154
18	2796396	T	C	18	2796398	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.63633958823735E-5	0.002
18	2796396	T	G	18	2796398	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999753891113637	0.988
18	2796397	C	A	18	2796399	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00936382468794523	0.096
18	2796397	C	G	18	2796399	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.76679428068703E-4	0.024
18	2796397	C	T	18	2796399	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.60853318758881E-5	0.004
18	2796398	T	A	18	2796400	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0120501449923449	0.166
18	2796398	T	C	18	2796400	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.92453729125378E-4	0.022
18	2796398	T	G	18	2796400	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00600545056684587	0.176
18	2796399	T	A	18	2796401	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00216462553579795	0.076
18	2796399	T	C	18	2796401	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.85283205173609E-5	0.0
18	2796399	T	G	18	2796401	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00284308737278865	0.074
18	2796400	C	A	18	2796402	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.54049153701465E-5	0.022
18	2796400	C	G	18	2796402	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.45225237356697E-4	0.022
18	2796400	C	T	18	2796402	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.62058434925874E-5	0.0
18	2796401	A	C	18	2796403	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.14451774492948E-5	0.0
18	2796401	A	G	18	2796403	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.18968513653908E-4	0.0
18	2796401	A	T	18	2796403	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.52958625279703E-5	0.0
18	2796402	C	A	18	2796404	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.582639687391005	0.456
18	2796402	C	G	18	2796404	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.999481128295498	0.878
18	2796402	C	T	18	2796404	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.94167807218105E-4	0.01
18	2796403	A	C	18	2796405	y	y	splicing	SMCHD1(NM_015295:exon47:c.5879-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5879-2A>C;ENST00000577880:exon37:c.4435-2A>C;ENST00000584897:exon31:c.3628-2A>C;ENST00000583800:exon2:c.10-2A>C)	.	.	0.999982151912279	0.89
18	2796403	A	G	18	2796405	y	y	splicing	SMCHD1(NM_015295:exon47:c.5879-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5879-2A>G;ENST00000577880:exon37:c.4435-2A>G;ENST00000584897:exon31:c.3628-2A>G;ENST00000583800:exon2:c.10-2A>G)	.	.	0.999982151912279	0.89
18	2796403	A	T	18	2796405	y	y	splicing	SMCHD1(NM_015295:exon47:c.5879-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5879-2A>T;ENST00000577880:exon37:c.4435-2A>T;ENST00000584897:exon31:c.3628-2A>T;ENST00000583800:exon2:c.10-2A>T)	.	.	0.999970104448312	0.87
18	2796404	G	A	18	2796406	y	y	splicing	SMCHD1(NM_015295:exon47:c.5879-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5879-1G>A;ENST00000577880:exon37:c.4435-1G>A;ENST00000584897:exon31:c.3628-1G>A;ENST00000583800:exon2:c.10-1G>A)	.	.	0.999916487880886	0.952
18	2796404	G	C	18	2796406	y	y	splicing	SMCHD1(NM_015295:exon47:c.5879-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5879-1G>C;ENST00000577880:exon37:c.4435-1G>C;ENST00000584897:exon31:c.3628-1G>C;ENST00000583800:exon2:c.10-1G>C)	.	.	0.999916487880886	0.944
18	2796404	G	T	18	2796406	y	y	splicing	SMCHD1(NM_015295:exon47:c.5879-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5879-1G>T;ENST00000577880:exon37:c.4435-1G>T;ENST00000584897:exon31:c.3628-1G>T;ENST00000583800:exon2:c.10-1G>T)	.	.	0.999916487880886	0.95
18	2796405	G	A	18	2796407	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.G5879A:p.G1960D;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.G5879A:p.G1960D;	0.235292253875949	0.494
18	2796405	G	C	18	2796407	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.G5879C:p.G1960A;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.G5879C:p.G1960A;	0.900304433782313	0.556
18	2796405	G	T	18	2796407	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.G5879T:p.G1960V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.G5879T:p.G1960V;	0.964890181269271	0.558
18	2796406	T	A	18	2796408	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon47:c.T5880A:p.G1960G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.T5880A:p.G1960G;	1.69640374878734E-4	0.004
18	2796406	T	C	18	2796408	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon47:c.T5880C:p.G1960G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.T5880C:p.G1960G;	1.41913660724892E-4	0.014
18	2796406	T	G	18	2796408	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon47:c.T5880G:p.G1960G;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.T5880G:p.G1960G;	1.41779512389988E-4	0.0
18	2796517	T	A	18	2796519	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.T5991A:p.N1997K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.T5991A:p.N1997K;	1.62703860030933E-5	0.004
18	2796517	T	C	18	2796519	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon47:c.T5991C:p.N1997N;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.T5991C:p.N1997N;	1.52844568705165E-5	0.0
18	2796517	T	G	18	2796519	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.T5991G:p.N1997K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.T5991G:p.N1997K;	2.55088077922134E-5	0.01
18	2796518	A	C	18	2796520	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon47:c.A5992C:p.R1998R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.A5992C:p.R1998R;	0.0885501780847353	0.398
18	2796518	A	G	18	2796520	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.A5992G:p.R1998G;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.A5992G:p.R1998G;	0.0921379657129238	0.328
18	2796518	A	T	18	2796520	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.A5992T:p.R1998W;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.A5992T:p.R1998W;	0.985782627850041	0.818
18	2796519	G	A	18	2796521	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.G5993A:p.R1998K;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.G5993A:p.R1998K;	0.985824697413939	0.814
18	2796519	G	C	18	2796521	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.G5993C:p.R1998T;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.G5993C:p.R1998T;	0.973299591576482	0.59
18	2796519	G	T	18	2796521	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon47:c.G5993T:p.R1998M;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon47:c.G5993T:p.R1998M;	0.997706202044645	0.92
18	2796520	G	A	18	2796522	y	y	splicing	SMCHD1(NM_015295:exon47:c.5993+1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5993+1G>A;ENST00000577880:exon37:c.4549+1G>A;ENST00000584897:exon31:c.3742+1G>A;ENST00000583800:exon2:c.124+1G>A)	.	.	0.999942513266374	0.86
18	2796520	G	C	18	2796522	y	y	splicing	SMCHD1(NM_015295:exon47:c.5993+1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5993+1G>C;ENST00000577880:exon37:c.4549+1G>C;ENST00000584897:exon31:c.3742+1G>C;ENST00000583800:exon2:c.124+1G>C)	.	.	0.999942513266374	0.818
18	2796520	G	T	18	2796522	y	y	splicing	SMCHD1(NM_015295:exon47:c.5993+1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5993+1G>T;ENST00000577880:exon37:c.4549+1G>T;ENST00000584897:exon31:c.3742+1G>T;ENST00000583800:exon2:c.124+1G>T)	.	.	0.999942513266374	0.822
18	2796521	T	A	18	2796523	y	y	splicing	SMCHD1(NM_015295:exon47:c.5993+2T>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5993+2T>A;ENST00000577880:exon37:c.4549+2T>A;ENST00000584897:exon31:c.3742+2T>A;ENST00000583800:exon2:c.124+2T>A)	.	.	0.999962958601995	0.838
18	2796521	T	C	18	2796523	y	y	splicing	SMCHD1(NM_015295:exon47:c.5993+2T>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5993+2T>C;ENST00000577880:exon37:c.4549+2T>C;ENST00000584897:exon31:c.3742+2T>C;ENST00000583800:exon2:c.124+2T>C)	.	.	0.999029161411728	0.744
18	2796521	T	G	18	2796523	y	y	splicing	SMCHD1(NM_015295:exon47:c.5993+2T>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon47:c.5993+2T>G;ENST00000577880:exon37:c.4549+2T>G;ENST00000584897:exon31:c.3742+2T>G;ENST00000583800:exon2:c.124+2T>G)	.	.	0.999962958601995	0.8
18	2796522	G	A	18	2796524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.86349656190795E-5	0.002
18	2796522	G	C	18	2796524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0858752776130448	0.46
18	2796522	G	T	18	2796524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.310283746877633	0.444
18	2796523	A	C	18	2796525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.287927185177576	0.406
18	2796523	A	G	18	2796525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.966033077641804	0.63
18	2796523	A	T	18	2796525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.958939172355103	0.584
18	2796524	G	A	18	2796526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.99777155213549	0.736
18	2796524	G	C	18	2796526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.989721030043716	0.698
18	2796524	G	T	18	2796526	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.996501604348514	0.684
18	2796525	T	A	18	2796527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0451542952868613	0.192
18	2796525	T	C	18	2796527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0662828601736016	0.242
18	2796525	T	G	18	2796527	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0146915154576975	0.166
18	2796526	T	A	18	2796528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.78958691012223E-5	0.062
18	2796526	T	C	18	2796528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.78958691012223E-5	0.0
18	2796526	T	G	18	2796528	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.78958691012223E-5	0.0
18	2796527	T	A	18	2796529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.08734463344448E-5	0.0
18	2796527	T	C	18	2796529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	7.09497515151573E-5	0.006
18	2796527	T	G	18	2796529	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.08734463344448E-5	0.0
18	2800509	T	A	18	2800511	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.13847195961614E-5	0.004
18	2800509	T	C	18	2800511	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.13847195961614E-5	0.014
18	2800509	T	G	18	2800511	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.13847195961614E-5	0.014
18	2800510	T	A	18	2800512	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.13847195961614E-5	0.004
18	2800510	T	C	18	2800512	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.87125311119806E-5	0.072
18	2800510	T	G	18	2800512	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.13847195961614E-5	0.016
18	2800511	T	A	18	2800513	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.13847195961614E-5	0.004
18	2800511	T	C	18	2800513	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.87125311119806E-5	0.112
18	2800511	T	G	18	2800513	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.87125311119806E-5	0.076
18	2800512	A	C	18	2800514	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.87125311119806E-5	0.014
18	2800512	A	G	18	2800514	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.87125311119806E-5	0.014
18	2800512	A	T	18	2800514	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.13847195961614E-5	0.004
18	2800513	T	A	18	2800515	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68284073685752E-5	0.004
18	2800513	T	C	18	2800515	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68284073685752E-5	0.022
18	2800513	T	G	18	2800515	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68284073685752E-5	0.006
18	2800514	T	A	18	2800516	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68284073685752E-5	0.004
18	2800514	T	C	18	2800516	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68284073685752E-5	0.004
18	2800514	T	G	18	2800516	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.68284073685752E-5	0.004
18	2800515	T	A	18	2800517	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2800515	T	C	18	2800517	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2800515	T	G	18	2800517	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2800516	T	A	18	2800518	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.008
18	2800516	T	C	18	2800518	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2800516	T	G	18	2800518	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2800517	G	A	18	2800519	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.42005417025298E-5	0.002
18	2800517	G	C	18	2800519	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.42005417025298E-5	0.004
18	2800517	G	T	18	2800519	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.42005417025298E-5	0.002
18	2800518	T	A	18	2800520	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2800518	T	C	18	2800520	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2800518	T	G	18	2800520	n	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.0288925866825E-5	0.002
18	2800519	A	C	18	2800521	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000583800:exon3:c.125-2A>C)	.	.	1.69884688945688E-4	0.022
18	2800519	A	G	18	2800521	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000583800:exon3:c.125-2A>G)	.	.	1.69884688945688E-4	0.026
18	2800519	A	T	18	2800521	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000583800:exon3:c.125-2A>T)	.	.	1.69884688945688E-4	0.01
18	2800520	G	A	18	2800522	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000583800:exon3:c.125-1G>A)	.	.	1.71486889510802E-5	0.002
18	2800520	G	C	18	2800522	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000583800:exon3:c.125-1G>C)	.	.	1.58927937202005E-5	0.004
18	2800520	G	T	18	2800522	n	y	intronic	SMCHD1	.	.	splicing	ENSG00000101596(ENST00000583800:exon3:c.125-1G>T)	.	.	1.58927937202005E-5	0.004
18	2800521	A	C	18	2800523	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	2.27163650926202E-4	0.078
18	2800521	A	G	18	2800523	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	9.57123356397867E-5	0.014
18	2800521	A	T	18	2800523	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	1.69884688945688E-4	0.01
18	2800522	G	A	18	2800524	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	1.69884688945688E-4	0.008
18	2800522	G	C	18	2800524	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	9.57123356397867E-5	0.014
18	2800522	G	T	18	2800524	n	y	intronic	SMCHD1	.	.	exonic	ENSG00000101596	unknown	UNKNOWN	9.57123356397867E-5	0.024
18	2802514	C	A	18	2802516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.0012165535123319	0.066
18	2802514	C	G	18	2802516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00278581337927461	0.038
18	2802514	C	T	18	2802516	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.08344544760443E-4	0.0
18	2802515	C	A	18	2802517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.10300489938087E-4	0.034
18	2802515	C	G	18	2802517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	9.22581712431236E-5	0.034
18	2802515	C	T	18	2802517	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.26282657477284E-5	0.0
18	2802516	C	A	18	2802518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.00992862942261E-4	0.062
18	2802516	C	G	18	2802518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.18471887652284E-4	0.016
18	2802516	C	T	18	2802518	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.30430507256332E-5	0.0
18	2802517	T	A	18	2802519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00310725519168381	0.11
18	2802517	T	C	18	2802519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	2.01797753376572E-4	0.014
18	2802517	T	G	18	2802519	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00525079376002155	0.138
18	2802518	T	A	18	2802520	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00292823033875512	0.234
18	2802518	T	C	18	2802520	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	8.1327541875409E-5	0.03
18	2802518	T	G	18	2802520	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.86171756547316E-4	0.188
18	2802519	T	A	18	2802521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.998773939372745	0.976
18	2802519	T	C	18	2802521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.04871852603267E-5	0.05
18	2802519	T	G	18	2802521	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.00225671218610518	0.224
18	2802520	G	A	18	2802522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.04414098200838E-5	0.092
18	2802520	G	C	18	2802522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.21181077752172E-5	0.038
18	2802520	G	T	18	2802522	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.62370154379432E-5	0.022
18	2802521	A	C	18	2802523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	4.15468677811539E-5	0.022
18	2802521	A	G	18	2802523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	6.5652098404673E-5	0.028
18	2802521	A	T	18	2802523	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	5.14742469107414E-5	0.002
18	2802522	C	A	18	2802524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.39301326175807E-5	0.002
18	2802522	C	G	18	2802524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.119028823369873	0.546
18	2802522	C	T	18	2802524	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	3.93816776714191E-5	0.08
18	2802523	C	A	18	2802525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.277921074654319	0.56
18	2802523	C	G	18	2802525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	0.994246099732885	0.688
18	2802523	C	T	18	2802525	y	y	intronic	SMCHD1	.	.	ncRNA_intronic	ENSG00000266049	.	.	1.29750125283511E-4	0.18
18	2802524	A	C	18	2802526	y	y	splicing	SMCHD1(NM_015295:exon48:c.5994-2A>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon48:c.5994-2A>C;ENST00000577880:exon38:c.4550-2A>C;ENST00000584897:exon32:c.3743-2A>C)	.	.	0.999873195202124	0.794
18	2802524	A	G	18	2802526	y	y	splicing	SMCHD1(NM_015295:exon48:c.5994-2A>G)	.	.	splicing	ENSG00000101596(ENST00000320876:exon48:c.5994-2A>G;ENST00000577880:exon38:c.4550-2A>G;ENST00000584897:exon32:c.3743-2A>G)	.	.	0.999873195202124	0.794
18	2802524	A	T	18	2802526	y	y	splicing	SMCHD1(NM_015295:exon48:c.5994-2A>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon48:c.5994-2A>T;ENST00000577880:exon38:c.4550-2A>T;ENST00000584897:exon32:c.3743-2A>T)	.	.	0.999873195202124	0.794
18	2802525	G	A	18	2802527	y	y	splicing	SMCHD1(NM_015295:exon48:c.5994-1G>A)	.	.	splicing	ENSG00000101596(ENST00000320876:exon48:c.5994-1G>A;ENST00000577880:exon38:c.4550-1G>A;ENST00000584897:exon32:c.3743-1G>A)	.	.	0.999961140342083	0.836
18	2802525	G	C	18	2802527	y	y	splicing	SMCHD1(NM_015295:exon48:c.5994-1G>C)	.	.	splicing	ENSG00000101596(ENST00000320876:exon48:c.5994-1G>C;ENST00000577880:exon38:c.4550-1G>C;ENST00000584897:exon32:c.3743-1G>C)	.	.	0.999979286468406	0.814
18	2802525	G	T	18	2802527	y	y	splicing	SMCHD1(NM_015295:exon48:c.5994-1G>T)	.	.	splicing	ENSG00000101596(ENST00000320876:exon48:c.5994-1G>T;ENST00000577880:exon38:c.4550-1G>T;ENST00000584897:exon32:c.3743-1G>T)	.	.	0.999961140342083	0.83
18	2802526	G	A	18	2802528	y	y	exonic	SMCHD1	synonymous SNV	SMCHD1:NM_015295:exon48:c.G5994A:p.R1998R;	exonic	ENSG00000101596	synonymous SNV	ENSG00000101596:ENST00000320876:exon48:c.G5994A:p.R1998R;	0.145436998212401	0.338
18	2802526	G	C	18	2802528	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon48:c.G5994C:p.R1998S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon48:c.G5994C:p.R1998S;	0.395359211223597	0.552
18	2802526	G	T	18	2802528	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon48:c.G5994T:p.R1998S;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon48:c.G5994T:p.R1998S;	0.197775403804606	0.464
18	2802527	A	C	18	2802529	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon48:c.A5995C:p.I1999L;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon48:c.A5995C:p.I1999L;	2.92794751235247E-4	0.034
18	2802527	A	G	18	2802529	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon48:c.A5995G:p.I1999V;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon48:c.A5995G:p.I1999V;	1.81294267471495E-4	0.118
18	2802527	A	T	18	2802529	y	y	exonic	SMCHD1	nonsynonymous SNV	SMCHD1:NM_015295:exon48:c.A5995T:p.I1999F;	exonic	ENSG00000101596	nonsynonymous SNV	ENSG00000101596:ENST00000320876:exon48:c.A5995T:p.I1999F;	1.21329346466089E-4	0.022
18	2847318	C	A	18	2847320	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon1:c.C132A:p.N44K;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon1:c.C132A:p.N44K;	0.00387689027544515	0.064
18	2847318	C	G	18	2847320	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon1:c.C132G:p.N44K;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon1:c.C132G:p.N44K;	0.00128446144910151	0.044
18	2847318	C	T	18	2847320	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon1:c.C132T:p.N44N;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon1:c.C132T:p.N44N;	0.0800072012546778	0.362
18	2847319	A	C	18	2847321	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon1:c.A133C:p.K45Q;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon1:c.A133C:p.K45Q;	0.937877870490664	0.74
18	2847319	A	G	18	2847321	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon1:c.A133G:p.K45E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon1:c.A133G:p.K45E;	0.804195954550004	0.574
18	2847319	A	T	18	2847321	y	y	exonic	EMILIN2	stopgain SNV	EMILIN2:NM_032048:exon1:c.A133T:p.K45X;	exonic	ENSG00000132205	stopgain SNV	ENSG00000132205:ENST00000254528:exon1:c.A133T:p.K45X;	0.98471842346849	0.766
18	2847320	A	C	18	2847322	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon1:c.A134C:p.K45T;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon1:c.A134C:p.K45T;	4.65483225218976E-4	0.028
18	2847320	A	G	18	2847322	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon1:c.A134G:p.K45R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon1:c.A134G:p.K45R;	3.9106201227618E-5	0.134
18	2847320	A	T	18	2847322	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon1:c.A134T:p.K45M;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon1:c.A134T:p.K45M;	0.00216301059486681	0.114
18	2847321	G	A	18	2847323	y	y	splicing	EMILIN2(NM_032048:exon1:c.134+1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon1:c.134+1G>A)	.	.	0.999940351765486	0.748
18	2847321	G	C	18	2847323	y	y	splicing	EMILIN2(NM_032048:exon1:c.134+1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon1:c.134+1G>C)	.	.	0.999940351765486	0.732
18	2847321	G	T	18	2847323	y	y	splicing	EMILIN2(NM_032048:exon1:c.134+1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon1:c.134+1G>T)	.	.	0.999940351765486	0.748
18	2847322	T	A	18	2847324	y	y	splicing	EMILIN2(NM_032048:exon1:c.134+2T>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon1:c.134+2T>A)	.	.	0.999968624618023	0.752
18	2847322	T	C	18	2847324	y	y	splicing	EMILIN2(NM_032048:exon1:c.134+2T>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon1:c.134+2T>C)	.	.	0.924972046172623	0.534
18	2847322	T	G	18	2847324	y	y	splicing	EMILIN2(NM_032048:exon1:c.134+2T>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon1:c.134+2T>G)	.	.	0.999968624618023	0.748
18	2847323	A	C	18	2847325	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.998919368229925	0.79
18	2847323	A	G	18	2847325	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0032191911316604	0.072
18	2847323	A	T	18	2847325	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.990522113862246	0.704
18	2847324	A	C	18	2847326	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.320899600537764	0.406
18	2847324	A	G	18	2847326	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.867177567754738	0.53
18	2847324	A	T	18	2847326	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.408135740638704	0.494
18	2847325	G	A	18	2847327	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.984246487240859	0.726
18	2847325	G	C	18	2847327	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.992912717646315	0.782
18	2847325	G	T	18	2847327	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.989017611620747	0.686
18	2847326	T	A	18	2847328	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0163439780461056	0.18
18	2847326	T	C	18	2847328	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0174680565649524	0.276
18	2847326	T	G	18	2847328	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00329459378273642	0.168
18	2847327	G	A	18	2847329	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.33683435998787E-4	0.002
18	2847327	G	C	18	2847329	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.79396734337908E-4	0.008
18	2847327	G	T	18	2847329	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.33683435998787E-4	0.004
18	2847328	C	A	18	2847330	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.77457243820827E-5	0.0
18	2847328	C	G	18	2847330	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.77457243820827E-5	0.0
18	2847328	C	T	18	2847330	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.19332324971095E-5	0.0
18	2847795	C	A	18	2847797	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0105395872927466	0.164
18	2847795	C	G	18	2847797	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0034496646164879	0.11
18	2847795	C	T	18	2847797	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.83266149711404E-5	0.002
18	2847796	C	A	18	2847798	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00272471086234329	0.084
18	2847796	C	G	18	2847798	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.59421013416641E-4	0.168
18	2847796	C	T	18	2847798	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.75997267228674E-5	0.004
18	2847797	T	A	18	2847799	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.99962398217734	0.968
18	2847797	T	C	18	2847799	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.25296295977997E-5	0.01
18	2847797	T	G	18	2847799	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0142715203351588	0.164
18	2847798	G	A	18	2847800	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.67103266136638E-5	0.0
18	2847798	G	C	18	2847800	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.90961291530202E-5	0.0
18	2847798	G	T	18	2847800	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.08379941643639E-5	0.0
18	2847799	C	A	18	2847801	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.57987828594683E-4	0.018
18	2847799	C	G	18	2847801	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00153313145754493	0.014
18	2847799	C	T	18	2847801	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.28607440660056E-5	0.0
18	2847800	A	C	18	2847802	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.17582813061898E-5	0.002
18	2847800	A	G	18	2847802	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.08576508990308E-5	0.0
18	2847800	A	T	18	2847802	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.35836695310034E-5	0.0
18	2847801	C	A	18	2847803	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00251853788489988	0.138
18	2847801	C	G	18	2847803	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.995508348502132	0.866
18	2847801	C	T	18	2847803	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.4994005129439E-5	0.018
18	2847802	C	A	18	2847804	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0194684945179417	0.276
18	2847802	C	G	18	2847804	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0247367317425372	0.28
18	2847802	C	T	18	2847804	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.90580140799196E-4	0.022
18	2847803	C	A	18	2847805	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.22184628599212E-5	0.004
18	2847803	C	G	18	2847805	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.56900591106981E-5	0.002
18	2847803	C	T	18	2847805	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.31284414433915E-5	0.004
18	2847804	C	A	18	2847806	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.947654452563031	0.806
18	2847804	C	G	18	2847806	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.998767098169207	0.948
18	2847804	C	T	18	2847806	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00291093475095672	0.126
18	2847805	A	C	18	2847807	y	y	splicing	EMILIN2(NM_032048:exon2:c.135-2A>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.135-2A>C)	.	.	0.999966514958823	0.932
18	2847805	A	G	18	2847807	y	y	splicing	EMILIN2(NM_032048:exon2:c.135-2A>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.135-2A>G)	.	.	0.999966514958823	0.932
18	2847805	A	T	18	2847807	y	y	splicing	EMILIN2(NM_032048:exon2:c.135-2A>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.135-2A>T)	.	.	0.999966514958823	0.938
18	2847806	G	A	18	2847808	y	y	splicing	EMILIN2(NM_032048:exon2:c.135-1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.135-1G>A)	.	.	0.999978338724804	0.9
18	2847806	G	C	18	2847808	y	y	splicing	EMILIN2(NM_032048:exon2:c.135-1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.135-1G>C)	.	.	0.999978338724804	0.89
18	2847806	G	T	18	2847808	y	y	splicing	EMILIN2(NM_032048:exon2:c.135-1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.135-1G>T)	.	.	0.999978338724804	0.896
18	2847807	G	A	18	2847809	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon2:c.G135A:p.K45K;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G135A:p.K45K;	0.129126735943762	0.338
18	2847807	G	C	18	2847809	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.G135C:p.K45N;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G135C:p.K45N;	0.993283472040047	0.918
18	2847807	G	T	18	2847809	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.G135T:p.K45N;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G135T:p.K45N;	0.999155582530585	0.956
18	2847808	A	C	18	2847810	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.A136C:p.N46H;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.A136C:p.N46H;	0.0315836360348049	0.148
18	2847808	A	G	18	2847810	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.A136G:p.N46D;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.A136G:p.N46D;	0.0306055197074806	0.166
18	2847808	A	T	18	2847810	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.A136T:p.N46Y;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.A136T:p.N46Y;	0.006669263067163	0.124
18	2847927	G	A	18	2847929	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon2:c.G255A:p.L85L;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G255A:p.L85L;	2.3090826710747E-5	0.004
18	2847927	G	C	18	2847929	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon2:c.G255C:p.L85L;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G255C:p.L85L;	3.37653103458681E-5	0.026
18	2847927	G	T	18	2847929	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon2:c.G255T:p.L85L;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G255T:p.L85L;	4.62771825905402E-4	0.03
18	2847928	G	A	18	2847930	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.G256A:p.V86M;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G256A:p.V86M;	0.0541590553485722	0.322
18	2847928	G	C	18	2847930	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.G256C:p.V86L;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G256C:p.V86L;	0.0154649317615302	0.162
18	2847928	G	T	18	2847930	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.G256T:p.V86L;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.G256T:p.V86L;	0.02913621536042	0.192
18	2847929	T	A	18	2847931	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.T257A:p.V86E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.T257A:p.V86E;	0.0283921051998391	0.248
18	2847929	T	C	18	2847931	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.T257C:p.V86A;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.T257C:p.V86A;	0.010571138804725	0.156
18	2847929	T	G	18	2847931	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.T257G:p.V86G;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon2:c.T257G:p.V86G;	3.83266149365203E-4	0.098
18	2847930	G	A	18	2847932	y	y	splicing	EMILIN2(NM_032048:exon2:c.257+1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.257+1G>A)	.	.	0.999986675681007	0.928
18	2847930	G	C	18	2847932	y	y	splicing	EMILIN2(NM_032048:exon2:c.257+1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.257+1G>C)	.	.	0.999986675681007	0.928
18	2847930	G	T	18	2847932	y	y	splicing	EMILIN2(NM_032048:exon2:c.257+1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.257+1G>T)	.	.	0.999986675681007	0.928
18	2847931	T	A	18	2847933	y	y	splicing	EMILIN2(NM_032048:exon2:c.257+2T>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.257+2T>A)	.	.	0.999988247793601	0.924
18	2847931	T	C	18	2847933	y	y	splicing	EMILIN2(NM_032048:exon2:c.257+2T>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.257+2T>C)	.	.	0.986384035448504	0.61
18	2847931	T	G	18	2847933	y	y	splicing	EMILIN2(NM_032048:exon2:c.257+2T>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon2:c.257+2T>G)	.	.	0.999978952611685	0.926
18	2847932	A	C	18	2847934	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.997384526119461	0.684
18	2847932	A	G	18	2847934	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00282636716748346	0.062
18	2847932	A	T	18	2847934	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.997453018098614	0.696
18	2847933	A	C	18	2847935	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.997639191919487	0.87
18	2847933	A	G	18	2847935	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.998472836483822	0.882
18	2847933	A	T	18	2847935	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.992046017473836	0.916
18	2847934	G	A	18	2847936	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999972174873865	0.976
18	2847934	G	C	18	2847936	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999986167125353	0.942
18	2847934	G	T	18	2847936	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999976844404329	0.968
18	2847935	T	A	18	2847937	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.987882041584345	0.812
18	2847935	T	C	18	2847937	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.986011405068118	0.908
18	2847935	T	G	18	2847937	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.956009356683454	0.886
18	2847936	C	A	18	2847938	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.18111881468629E-4	0.0
18	2847936	C	G	18	2847938	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.66319213704038E-5	0.0
18	2847936	C	T	18	2847938	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.18111881468629E-4	0.0
18	2847937	C	A	18	2847939	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.18586538684499E-4	0.002
18	2847937	C	G	18	2847939	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.22938780917963E-4	0.0
18	2847937	C	T	18	2847939	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.63618347904412E-4	0.002
18	2884950	T	A	18	2884952	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.28341870137444E-5	0.06
18	2884950	T	C	18	2884952	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.56190358241987E-5	0.0
18	2884950	T	G	18	2884952	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.0007493838006E-5	0.012
18	2884951	T	A	18	2884953	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.18939664571149E-4	0.088
18	2884951	T	C	18	2884953	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.06255777638175E-5	0.016
18	2884951	T	G	18	2884953	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.1319500287284E-5	0.04
18	2884952	C	A	18	2884954	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.3172784276249E-5	0.074
18	2884952	C	G	18	2884954	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.38230539581565E-5	0.004
18	2884952	C	T	18	2884954	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.22131841146811E-5	0.0
18	2884953	T	A	18	2884955	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.998776462900149	0.954
18	2884953	T	C	18	2884955	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.90503755958869E-5	0.002
18	2884953	T	G	18	2884955	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.05423465914103E-4	0.038
18	2884954	G	A	18	2884956	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.17425620994024E-5	0.032
18	2884954	G	C	18	2884956	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.4059746736795E-5	0.006
18	2884954	G	T	18	2884956	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.98217107938215E-5	0.002
18	2884955	T	A	18	2884957	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.71184935603317E-4	0.096
18	2884955	T	C	18	2884957	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.00623724765079E-5	0.0
18	2884955	T	G	18	2884957	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.61869941000399E-4	0.104
18	2884956	C	A	18	2884958	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.73355968727363E-4	0.066
18	2884956	C	G	18	2884958	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.54407419658686E-4	0.056
18	2884956	C	T	18	2884958	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.33096445975827E-5	0.006
18	2884957	C	A	18	2884959	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.87865025152865E-4	0.006
18	2884957	C	G	18	2884959	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.93659296674629E-4	0.078
18	2884957	C	T	18	2884959	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.12859825551214E-5	0.006
18	2884958	A	C	18	2884960	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.94676596455644E-5	0.01
18	2884958	A	G	18	2884960	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.87544548170259E-5	0.004
18	2884958	A	T	18	2884960	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.32956018306658E-5	0.014
18	2884959	C	A	18	2884961	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.416332796785436	0.428
18	2884959	C	G	18	2884961	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999347071744838	0.944
18	2884959	C	T	18	2884961	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0134601483379608	0.272
18	2884960	A	C	18	2884962	y	y	splicing	EMILIN2(NM_032048:exon3:c.258-2A>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.258-2A>C)	.	.	0.999988247793601	0.93
18	2884960	A	G	18	2884962	y	y	splicing	EMILIN2(NM_032048:exon3:c.258-2A>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.258-2A>G)	.	.	0.999988247793601	0.93
18	2884960	A	T	18	2884962	y	y	splicing	EMILIN2(NM_032048:exon3:c.258-2A>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.258-2A>T)	.	.	0.999988247793601	0.93
18	2884961	G	A	18	2884963	y	y	splicing	EMILIN2(NM_032048:exon3:c.258-1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.258-1G>A)	.	.	0.999990361384395	0.936
18	2884961	G	C	18	2884963	y	y	splicing	EMILIN2(NM_032048:exon3:c.258-1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.258-1G>C)	.	.	0.999990361384395	0.936
18	2884961	G	T	18	2884963	y	y	splicing	EMILIN2(NM_032048:exon3:c.258-1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.258-1G>T)	.	.	0.999990361384395	0.936
18	2884962	G	A	18	2884964	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon3:c.G258A:p.V86V;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.G258A:p.V86V;	0.00306615935502523	0.18
18	2884962	G	C	18	2884964	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon3:c.G258C:p.V86V;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.G258C:p.V86V;	0.00622417083867704	0.296
18	2884962	G	T	18	2884964	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon3:c.G258T:p.V86V;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.G258T:p.V86V;	0.120851228911023	0.444
18	2884963	T	A	18	2884965	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.T259A:p.Y87N;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.T259A:p.Y87N;	0.327016190571441	0.574
18	2884963	T	C	18	2884965	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.T259C:p.Y87H;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.T259C:p.Y87H;	0.395626960926402	0.586
18	2884963	T	G	18	2884965	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.T259G:p.Y87D;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.T259G:p.Y87D;	0.353565871660846	0.554
18	2885135	C	A	18	2885137	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.C431A:p.T144K;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.C431A:p.T144K;	0.0116564289834468	0.136
18	2885135	C	G	18	2885137	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.C431G:p.T144R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.C431G:p.T144R;	0.0380838510882298	0.094
18	2885135	C	T	18	2885137	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.C431T:p.T144I;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.C431T:p.T144I;	0.92661352128534	0.736
18	2885136	A	C	18	2885138	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon3:c.A432C:p.T144T;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.A432C:p.T144T;	0.821912849262825	0.644
18	2885136	A	G	18	2885138	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon3:c.A432G:p.T144T;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.A432G:p.T144T;	0.983789923003686	0.724
18	2885136	A	T	18	2885138	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon3:c.A432T:p.T144T;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.A432T:p.T144T;	0.995340478014309	0.796
18	2885137	G	A	18	2885139	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.G433A:p.D145N;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.G433A:p.D145N;	0.999976944333094	0.998
18	2885137	G	C	18	2885139	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.G433C:p.D145H;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.G433C:p.D145H;	0.999995931983498	0.994
18	2885137	G	T	18	2885139	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon3:c.G433T:p.D145Y;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon3:c.G433T:p.D145Y;	0.999889762079714	0.958
18	2885138	G	A	18	2885140	y	y	splicing	EMILIN2(NM_032048:exon3:c.433+1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.433+1G>A)	.	.	0.99995545544995	0.932
18	2885138	G	C	18	2885140	y	y	splicing	EMILIN2(NM_032048:exon3:c.433+1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.433+1G>C)	.	.	0.99995545544995	0.936
18	2885138	G	T	18	2885140	y	y	splicing	EMILIN2(NM_032048:exon3:c.433+1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.433+1G>T)	.	.	0.99995545544995	0.932
18	2885139	T	A	18	2885141	y	y	splicing	EMILIN2(NM_032048:exon3:c.433+2T>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.433+2T>A)	.	.	0.999963671976247	0.934
18	2885139	T	C	18	2885141	y	y	splicing	EMILIN2(NM_032048:exon3:c.433+2T>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.433+2T>C)	.	.	0.9648338102521	0.602
18	2885139	T	G	18	2885141	y	y	splicing	EMILIN2(NM_032048:exon3:c.433+2T>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon3:c.433+2T>G)	.	.	0.999971317418422	0.898
18	2885140	A	C	18	2885142	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.99826582529031	0.866
18	2885140	A	G	18	2885142	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0562413269439131	0.5
18	2885140	A	T	18	2885142	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999774578270773	0.866
18	2885141	A	C	18	2885143	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.36103995120058	0.458
18	2885141	A	G	18	2885143	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.329448337146539	0.46
18	2885141	A	T	18	2885143	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.335614475988016	0.394
18	2885142	C	A	18	2885144	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.83726982816878E-4	0.018
18	2885142	C	G	18	2885144	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.88235045199645E-5	0.11
18	2885142	C	T	18	2885144	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.17259668995807E-4	0.016
18	2885143	T	A	18	2885145	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.23957452137718E-4	0.068
18	2885143	T	C	18	2885145	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0012667249711318	0.084
18	2885143	T	G	18	2885145	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.85764908456178E-4	0.078
18	2885144	T	A	18	2885146	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.07256548728156E-5	0.0
18	2885144	T	C	18	2885146	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.07256548728156E-5	0.0
18	2885144	T	G	18	2885146	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.49987850486752E-5	0.0
18	2885145	C	A	18	2885147	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.69931515497801E-4	0.0
18	2885145	C	G	18	2885147	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.58523093002695E-4	0.0
18	2885145	C	T	18	2885147	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.17928572502662E-4	0.0
18	2890547	T	A	18	2890549	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00321050693123157	0.406
18	2890547	T	C	18	2890549	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.37423982094172E-4	0.088
18	2890547	T	G	18	2890549	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.9995280926732	0.962
18	2890548	C	A	18	2890550	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00134110040489335	0.128
18	2890548	C	G	18	2890550	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.68518030464566E-4	0.104
18	2890548	C	T	18	2890550	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.9558466186051E-5	0.014
18	2890549	T	A	18	2890551	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00218760611839416	0.156
18	2890549	T	C	18	2890551	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.43840530718474E-4	0.022
18	2890549	T	G	18	2890551	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00151790283889067	0.19
18	2890550	T	A	18	2890552	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.219111969691584	0.44
18	2890550	T	C	18	2890552	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00169798330075455	0.096
18	2890550	T	G	18	2890552	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.402857267166684	0.466
18	2890551	T	A	18	2890553	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999716038188126	0.94
18	2890551	T	C	18	2890553	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.38514942800035E-5	0.006
18	2890551	T	G	18	2890553	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00635091086734768	0.374
18	2890552	G	A	18	2890554	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.60246595135254E-4	0.032
18	2890552	G	C	18	2890554	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.06453814448759E-5	0.01
18	2890552	G	T	18	2890554	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.50842718492841E-5	0.006
18	2890553	T	A	18	2890555	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00140375198683065	0.414
18	2890553	T	C	18	2890555	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.15326021011607E-4	0.088
18	2890553	T	G	18	2890555	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00370368093326241	0.386
18	2890554	A	C	18	2890556	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.58645906776164E-5	0.002
18	2890554	A	G	18	2890556	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.33239056561672E-5	0.01
18	2890554	A	T	18	2890556	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.67944982512943E-5	0.0
18	2890555	A	C	18	2890557	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.16973240175589E-5	0.004
18	2890555	A	G	18	2890557	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.930864224426178	0.788
18	2890555	A	T	18	2890557	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.38167186129288E-4	0.02
18	2890556	C	A	18	2890558	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.962138463259081	0.826
18	2890556	C	G	18	2890558	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.99945441993729	0.852
18	2890556	C	T	18	2890558	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0141444659875209	0.254
18	2890557	A	C	18	2890559	y	y	splicing	EMILIN2(NM_032048:exon4:c.434-2A>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.434-2A>C)	.	.	0.999965314197099	0.87
18	2890557	A	G	18	2890559	y	y	splicing	EMILIN2(NM_032048:exon4:c.434-2A>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.434-2A>G)	.	.	0.999965829836351	0.868
18	2890557	A	T	18	2890559	y	y	splicing	EMILIN2(NM_032048:exon4:c.434-2A>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.434-2A>T)	.	.	0.999965314197099	0.884
18	2890558	G	A	18	2890560	y	y	splicing	EMILIN2(NM_032048:exon4:c.434-1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.434-1G>A)	.	.	0.99995261935813	0.84
18	2890558	G	C	18	2890560	y	y	splicing	EMILIN2(NM_032048:exon4:c.434-1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.434-1G>C)	.	.	0.99995261935813	0.834
18	2890558	G	T	18	2890560	y	y	splicing	EMILIN2(NM_032048:exon4:c.434-1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.434-1G>T)	.	.	0.99995261935813	0.838
18	2890559	A	C	18	2890561	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.A434C:p.D145A;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.A434C:p.D145A;	0.0371390264147509	0.222
18	2890559	A	G	18	2890561	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.A434G:p.D145G;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.A434G:p.D145G;	1.59035917766968E-4	0.022
18	2890559	A	T	18	2890561	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.A434T:p.D145V;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.A434T:p.D145V;	0.0118107288513712	0.27
18	2890560	T	A	18	2890562	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.T435A:p.D145E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.T435A:p.D145E;	9.74789584768882E-4	0.276
18	2890560	T	C	18	2890562	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon4:c.T435C:p.D145D;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.T435C:p.D145D;	7.84513793847534E-5	0.022
18	2890560	T	G	18	2890562	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.T435G:p.D145E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.T435G:p.D145E;	2.02407580777874E-4	0.12
18	2892482	C	A	18	2892484	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.C2357A:p.A786E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.C2357A:p.A786E;	3.23344742243422E-4	0.032
18	2892482	C	G	18	2892484	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.C2357G:p.A786G;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.C2357G:p.A786G;	6.27622251737653E-5	0.032
18	2892482	C	T	18	2892484	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.C2357T:p.A786V;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.C2357T:p.A786V;	0.0511769407553747	0.286
18	2892483	A	C	18	2892485	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon4:c.A2358C:p.A786A;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.A2358C:p.A786A;	0.237148893811071	0.61
18	2892483	A	G	18	2892485	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon4:c.A2358G:p.A786A;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.A2358G:p.A786A;	0.161398941800119	0.554
18	2892483	A	T	18	2892485	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon4:c.A2358T:p.A786A;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.A2358T:p.A786A;	0.490927160902518	0.656
18	2892484	A	C	18	2892486	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.A2359C:p.K787Q;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.A2359C:p.K787Q;	6.16910883223478E-5	0.014
18	2892484	A	G	18	2892486	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.A2359G:p.K787E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon4:c.A2359G:p.K787E;	3.06402335781247E-5	0.136
18	2892484	A	T	18	2892486	y	y	exonic	EMILIN2	stopgain SNV	EMILIN2:NM_032048:exon4:c.A2359T:p.K787X;	exonic	ENSG00000132205	stopgain SNV	ENSG00000132205:ENST00000254528:exon4:c.A2359T:p.K787X;	9.01416749635513E-4	0.292
18	2892485	G	A	18	2892487	y	y	splicing	EMILIN2(NM_032048:exon4:c.2359+1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.2359+1G>A)	.	.	0.999980255680118	0.79
18	2892485	G	C	18	2892487	y	y	splicing	EMILIN2(NM_032048:exon4:c.2359+1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.2359+1G>C)	.	.	0.999980255680118	0.762
18	2892485	G	T	18	2892487	y	y	splicing	EMILIN2(NM_032048:exon4:c.2359+1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.2359+1G>T)	.	.	0.999980255680118	0.754
18	2892486	T	A	18	2892488	y	y	splicing	EMILIN2(NM_032048:exon4:c.2359+2T>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.2359+2T>A)	.	.	0.999989614548265	0.74
18	2892486	T	C	18	2892488	y	y	splicing	EMILIN2(NM_032048:exon4:c.2359+2T>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.2359+2T>C)	.	.	0.905963037503723	0.492
18	2892486	T	G	18	2892488	y	y	splicing	EMILIN2(NM_032048:exon4:c.2359+2T>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon4:c.2359+2T>G)	.	.	0.999991794264552	0.754
18	2892487	A	C	18	2892489	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.96455785938996	0.664
18	2892487	A	G	18	2892489	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00272167398169783	0.076
18	2892487	A	T	18	2892489	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.67256722701862	0.592
18	2892488	A	C	18	2892490	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.90629589695566	0.484
18	2892488	A	G	18	2892490	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.909613571280011	0.596
18	2892488	A	T	18	2892490	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.87049978838443	0.566
18	2892489	G	A	18	2892491	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.99639442212702	0.728
18	2892489	G	C	18	2892491	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.997001684627196	0.79
18	2892489	G	T	18	2892491	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.996046268402261	0.73
18	2892490	T	A	18	2892492	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.564790224942261	0.42
18	2892490	T	C	18	2892492	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.392376554080285	0.43
18	2892490	T	G	18	2892492	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.135908538889813	0.358
18	2892491	T	A	18	2892493	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.44454674516076E-5	0.0
18	2892491	T	C	18	2892493	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.44454674516076E-5	0.016
18	2892491	T	G	18	2892493	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.44454674516076E-5	0.032
18	2892492	G	A	18	2892494	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.52346134662603E-5	0.0
18	2892492	G	C	18	2892494	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.45992055671961E-5	0.0
18	2892492	G	T	18	2892494	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.58915390719906E-5	0.0
18	2906769	G	A	18	2906771	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.51862573497146E-5	0.0
18	2906769	G	C	18	2906771	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.84134670118693E-5	0.002
18	2906769	G	T	18	2906771	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.41779233681183E-5	0.01
18	2906770	A	C	18	2906772	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.83354440777912E-4	0.04
18	2906770	A	G	18	2906772	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.2746964180894E-5	0.006
18	2906770	A	T	18	2906772	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00121588540787148	0.09
18	2906771	C	A	18	2906773	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.998729243032817	0.882
18	2906771	C	G	18	2906773	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.998848320365517	0.892
18	2906771	C	T	18	2906773	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.42435183050871E-5	0.002
18	2906772	G	A	18	2906774	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00185102805711366	0.03
18	2906772	G	C	18	2906774	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.17962026006585E-5	0.004
18	2906772	G	T	18	2906774	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.74104593375501E-5	0.03
18	2906773	C	A	18	2906775	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.398223876827404	0.346
18	2906773	C	G	18	2906775	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.264665495164471	0.344
18	2906773	C	T	18	2906775	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.72780985108122E-4	0.01
18	2906774	C	A	18	2906776	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.166107566792567	0.32
18	2906774	C	G	18	2906776	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.299294484431466	0.386
18	2906774	C	T	18	2906776	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.86342466398131E-5	0.006
18	2906775	C	A	18	2906777	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999912626074277	0.966
18	2906775	C	G	18	2906777	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.703381229967171	0.522
18	2906775	C	T	18	2906777	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.78933270031772E-4	0.016
18	2906776	G	A	18	2906778	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.981720290341633	0.944
18	2906776	G	C	18	2906778	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.462311816865E-5	0.134
18	2906776	G	T	18	2906778	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.09908947926629E-5	0.084
18	2906777	G	A	18	2906779	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00215009814005013	0.038
18	2906777	G	C	18	2906779	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0029079214887807	0.096
18	2906777	G	T	18	2906779	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00707211323961705	0.172
18	2906778	C	A	18	2906780	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999970470377397	0.912
18	2906778	C	G	18	2906780	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.99998663685938	0.822
18	2906778	C	T	18	2906780	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.535834018351481	0.442
18	2906779	A	C	18	2906781	y	y	splicing	EMILIN2(NM_032048:exon5:c.2360-2A>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2360-2A>C)	.	.	0.994749964303756	0.444
18	2906779	A	G	18	2906781	y	y	splicing	EMILIN2(NM_032048:exon5:c.2360-2A>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2360-2A>G)	.	.	0.994749964303756	0.444
18	2906779	A	T	18	2906781	y	y	splicing	EMILIN2(NM_032048:exon5:c.2360-2A>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2360-2A>T)	.	.	0.994749964303756	0.456
18	2906780	G	A	18	2906782	y	y	splicing	EMILIN2(NM_032048:exon5:c.2360-1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2360-1G>A)	.	.	0.99997051733697	0.788
18	2906780	G	C	18	2906782	y	y	splicing	EMILIN2(NM_032048:exon5:c.2360-1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2360-1G>C)	.	.	0.99997051733697	0.788
18	2906780	G	T	18	2906782	y	y	splicing	EMILIN2(NM_032048:exon5:c.2360-1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2360-1G>T)	.	.	0.99997051733697	0.788
18	2906781	A	C	18	2906783	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.A2360C:p.K787T;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.A2360C:p.K787T;	8.15372699998564E-4	0.116
18	2906781	A	G	18	2906783	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.A2360G:p.K787R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.A2360G:p.K787R;	4.64961316224682E-5	0.008
18	2906781	A	T	18	2906783	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.A2360T:p.K787M;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.A2360T:p.K787M;	0.0014049357069607	0.118
18	2906782	G	A	18	2906784	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon5:c.G2361A:p.K787K;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.G2361A:p.K787K;	5.47682812556598E-4	0.086
18	2906782	G	C	18	2906784	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.G2361C:p.K787N;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.G2361C:p.K787N;	1.81931196762872E-4	0.046
18	2906782	G	T	18	2906784	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.G2361T:p.K787N;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.G2361T:p.K787N;	7.48345703026586E-6	0.006
18	2907081	C	A	18	2907083	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.C2660A:p.P887Q;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.C2660A:p.P887Q;	0.524506245045022	0.578
18	2907081	C	G	18	2907083	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.C2660G:p.P887R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.C2660G:p.P887R;	0.233617726397019	0.51
18	2907081	C	T	18	2907083	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.C2660T:p.P887L;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.C2660T:p.P887L;	0.943336500740342	0.708
18	2907082	A	C	18	2907084	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon5:c.A2661C:p.P887P;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.A2661C:p.P887P;	0.816564461663226	0.7
18	2907082	A	G	18	2907084	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon5:c.A2661G:p.P887P;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.A2661G:p.P887P;	0.921266721595645	0.648
18	2907082	A	T	18	2907084	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon5:c.A2661T:p.P887P;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.A2661T:p.P887P;	0.900128841487514	0.71
18	2907083	G	A	18	2907085	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.G2662A:p.G888R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.G2662A:p.G888R;	0.999806443335723	0.962
18	2907083	G	C	18	2907085	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon5:c.G2662C:p.G888R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon5:c.G2662C:p.G888R;	0.999970459899308	0.99
18	2907083	G	T	18	2907085	y	y	exonic	EMILIN2	stopgain SNV	EMILIN2:NM_032048:exon5:c.G2662T:p.G888X;	exonic	ENSG00000132205	stopgain SNV	ENSG00000132205:ENST00000254528:exon5:c.G2662T:p.G888X;	0.999925288404638	0.97
18	2907084	G	A	18	2907086	y	y	splicing	EMILIN2(NM_032048:exon5:c.2662+1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2662+1G>A)	.	.	0.999981535500952	0.938
18	2907084	G	C	18	2907086	y	y	splicing	EMILIN2(NM_032048:exon5:c.2662+1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2662+1G>C)	.	.	0.99998491298609	0.902
18	2907084	G	T	18	2907086	y	y	splicing	EMILIN2(NM_032048:exon5:c.2662+1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2662+1G>T)	.	.	0.999980891420653	0.914
18	2907085	T	A	18	2907087	y	y	splicing	EMILIN2(NM_032048:exon5:c.2662+2T>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2662+2T>A)	.	.	0.999988510283643	0.932
18	2907085	T	C	18	2907087	y	y	splicing	EMILIN2(NM_032048:exon5:c.2662+2T>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2662+2T>C)	.	.	0.999933236643277	0.8
18	2907085	T	G	18	2907087	y	y	splicing	EMILIN2(NM_032048:exon5:c.2662+2T>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon5:c.2662+2T>G)	.	.	0.999990611969007	0.894
18	2907086	G	A	18	2907088	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.17075228623094E-5	0.002
18	2907086	G	C	18	2907088	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0700152561327914	0.336
18	2907086	G	T	18	2907088	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.113738108428847	0.41
18	2907087	A	C	18	2907089	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.588742760048326	0.398
18	2907087	A	G	18	2907089	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.962411728519467	0.598
18	2907087	A	T	18	2907089	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.845877143841335	0.506
18	2907088	G	A	18	2907090	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.395236193870033	0.6
18	2907088	G	C	18	2907090	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.532259749552339	0.562
18	2907088	G	T	18	2907090	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.878989009973363	0.664
18	2907089	G	A	18	2907091	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.59792339839223E-5	0.006
18	2907089	G	C	18	2907091	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.19825467368772E-5	0.014
18	2907089	G	T	18	2907091	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.08974512373596E-5	0.0
18	2907090	C	A	18	2907092	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.37184549953077E-4	0.0
18	2907090	C	G	18	2907092	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.25487712766919E-4	0.0
18	2907090	C	T	18	2907092	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.38498433933773E-4	0.0
18	2907091	C	A	18	2907093	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.18739475854678E-5	0.0
18	2907091	C	G	18	2907093	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.12456512548265E-4	0.0
18	2907091	C	T	18	2907093	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.18739475854678E-5	0.0
18	2908929	T	A	18	2908931	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.67541306297589E-5	0.052
18	2908929	T	C	18	2908931	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.02327098680871E-4	0.0
18	2908929	T	G	18	2908931	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.12130150829846E-4	0.046
18	2908930	C	A	18	2908932	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.65133426396814E-5	0.042
18	2908930	C	G	18	2908932	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.33125653239525E-5	0.032
18	2908930	C	T	18	2908932	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.18404589725729E-5	0.008
18	2908931	T	A	18	2908933	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.99934897358495	0.954
18	2908931	T	C	18	2908933	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.92903132572891E-4	0.042
18	2908931	T	G	18	2908933	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00210295257951457	0.166
18	2908932	G	A	18	2908934	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.28571770033086E-4	0.006
18	2908932	G	C	18	2908934	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.25593062302678E-5	0.002
18	2908932	G	T	18	2908934	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.18014141735284E-5	0.002
18	2908933	T	A	18	2908935	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.88544145450507E-4	0.048
18	2908933	T	C	18	2908935	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.71695424209977E-5	0.0
18	2908933	T	G	18	2908935	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.94418785215547E-5	0.04
18	2908934	T	A	18	2908936	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.04809761968426E-4	0.042
18	2908934	T	C	18	2908936	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.24882700826262E-5	0.0
18	2908934	T	G	18	2908936	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.74537854802487E-5	0.05
18	2908935	T	A	18	2908937	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.013120048809395	0.198
18	2908935	T	C	18	2908937	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.6591795528978E-4	0.016
18	2908935	T	G	18	2908937	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0191586180034014	0.19
18	2908936	T	A	18	2908938	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0290475067801817	0.302
18	2908936	T	C	18	2908938	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00281403427015119	0.026
18	2908936	T	G	18	2908938	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0472736284882926	0.394
18	2908937	T	A	18	2908939	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.26482108211533E-4	0.0
18	2908937	T	C	18	2908939	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.47508657908671E-5	0.0
18	2908937	T	G	18	2908939	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.3147392213386E-4	0.006
18	2908938	C	A	18	2908940	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.842927605531388	0.518
18	2908938	C	G	18	2908940	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999296975948847	0.882
18	2908938	C	T	18	2908940	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.152987894096532	0.2
18	2908939	A	C	18	2908941	y	y	splicing	EMILIN2(NM_032048:exon6:c.2663-2A>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2663-2A>C)	.	.	0.999966203349492	0.944
18	2908939	A	G	18	2908941	y	y	splicing	EMILIN2(NM_032048:exon6:c.2663-2A>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2663-2A>G)	.	.	0.999966203349492	0.944
18	2908939	A	T	18	2908941	y	y	splicing	EMILIN2(NM_032048:exon6:c.2663-2A>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2663-2A>T)	.	.	0.999966203349492	0.94
18	2908940	G	A	18	2908942	y	y	splicing	EMILIN2(NM_032048:exon6:c.2663-1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2663-1G>A)	.	.	0.999915710762489	0.946
18	2908940	G	C	18	2908942	y	y	splicing	EMILIN2(NM_032048:exon6:c.2663-1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2663-1G>C)	.	.	0.999915710762489	0.95
18	2908940	G	T	18	2908942	y	y	splicing	EMILIN2(NM_032048:exon6:c.2663-1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2663-1G>T)	.	.	0.999915710762489	0.95
18	2908941	G	A	18	2908943	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon6:c.G2663A:p.G888E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.G2663A:p.G888E;	0.997561860244139	0.732
18	2908941	G	C	18	2908943	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon6:c.G2663C:p.G888A;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.G2663C:p.G888A;	0.789630966531669	0.644
18	2908941	G	T	18	2908943	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon6:c.G2663T:p.G888V;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.G2663T:p.G888V;	0.999269813887417	0.842
18	2908942	A	C	18	2908944	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon6:c.A2664C:p.G888G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.A2664C:p.G888G;	2.16232594212241E-4	0.01
18	2908942	A	G	18	2908944	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon6:c.A2664G:p.G888G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.A2664G:p.G888G;	2.07123591511472E-4	0.016
18	2908942	A	T	18	2908944	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon6:c.A2664T:p.G888G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.A2664T:p.G888G;	7.27210299524074E-5	0.036
18	2908971	C	A	18	2908973	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon6:c.C2693A:p.P898Q;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.C2693A:p.P898Q;	0.00177027870863978	0.102
18	2908971	C	G	18	2908973	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon6:c.C2693G:p.P898R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.C2693G:p.P898R;	0.00363171283157595	0.1
18	2908971	C	T	18	2908973	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon6:c.C2693T:p.P898L;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.C2693T:p.P898L;	0.243426738981243	0.458
18	2908972	A	C	18	2908974	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon6:c.A2694C:p.P898P;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.A2694C:p.P898P;	0.198123227905207	0.39
18	2908972	A	G	18	2908974	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon6:c.A2694G:p.P898P;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.A2694G:p.P898P;	0.333427909557757	0.38
18	2908972	A	T	18	2908974	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon6:c.A2694T:p.P898P;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.A2694T:p.P898P;	0.627784965030083	0.572
18	2908973	G	A	18	2908975	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon6:c.G2695A:p.G899R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.G2695A:p.G899R;	0.998985071571617	0.972
18	2908973	G	C	18	2908975	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon6:c.G2695C:p.G899R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon6:c.G2695C:p.G899R;	0.999708206056256	0.968
18	2908973	G	T	18	2908975	y	y	exonic	EMILIN2	stopgain SNV	EMILIN2:NM_032048:exon6:c.G2695T:p.G899X;	exonic	ENSG00000132205	stopgain SNV	ENSG00000132205:ENST00000254528:exon6:c.G2695T:p.G899X;	0.999897414635235	0.922
18	2908974	G	A	18	2908976	y	y	splicing	EMILIN2(NM_032048:exon6:c.2695+1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2695+1G>A)	.	.	0.999942513266374	0.818
18	2908974	G	C	18	2908976	y	y	splicing	EMILIN2(NM_032048:exon6:c.2695+1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2695+1G>C)	.	.	0.999969357331099	0.794
18	2908974	G	T	18	2908976	y	y	splicing	EMILIN2(NM_032048:exon6:c.2695+1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2695+1G>T)	.	.	0.999942513266374	0.81
18	2908975	T	A	18	2908977	y	y	splicing	EMILIN2(NM_032048:exon6:c.2695+2T>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2695+2T>A)	.	.	0.999962958601995	0.8
18	2908975	T	C	18	2908977	y	y	splicing	EMILIN2(NM_032048:exon6:c.2695+2T>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2695+2T>C)	.	.	0.816674828759553	0.538
18	2908975	T	G	18	2908977	y	y	splicing	EMILIN2(NM_032048:exon6:c.2695+2T>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon6:c.2695+2T>G)	.	.	0.999980255680118	0.778
18	2908976	A	C	18	2908978	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.880510222011927	0.574
18	2908976	A	G	18	2908978	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.241870645441586	0.584
18	2908976	A	T	18	2908978	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.775748850997974	0.538
18	2908977	T	A	18	2908979	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.76093252595837E-5	0.02
18	2908977	T	C	18	2908979	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.86269840649936E-5	0.0
18	2908977	T	G	18	2908979	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.24916063886515E-6	0.0
18	2908978	G	A	18	2908980	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.728068495378982	0.502
18	2908978	G	C	18	2908980	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.902212419991891	0.562
18	2908978	G	T	18	2908980	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.889374797892013	0.576
18	2908979	T	A	18	2908981	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00210039626223023	0.136
18	2908979	T	C	18	2908981	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0103168575796716	0.176
18	2908979	T	G	18	2908981	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.89497443571585E-4	0.098
18	2908980	C	A	18	2908982	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.51383879749987E-5	0.0
18	2908980	C	G	18	2908982	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.51791108058077E-5	0.0
18	2908980	C	T	18	2908982	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.51791108058077E-5	0.002
18	2908981	T	A	18	2908983	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.1020973109669E-5	0.0
18	2908981	T	C	18	2908983	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.256915070725E-5	0.0
18	2908981	T	G	18	2908983	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.60482316031371E-5	0.002
18	2909677	T	A	18	2909679	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0126327485280052	0.24
18	2909677	T	C	18	2909679	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.59175132416601E-4	0.062
18	2909677	T	G	18	2909679	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0112936681813816	0.256
18	2909678	C	A	18	2909680	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.78545709395972E-4	0.106
18	2909678	C	G	18	2909680	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.8030635732288E-4	0.02
18	2909678	C	T	18	2909680	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	9.37892023683902E-5	0.0
18	2909679	T	A	18	2909681	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00197736316141787	0.172
18	2909679	T	C	18	2909681	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.56680926153725E-5	0.004
18	2909679	T	G	18	2909681	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00211756725016519	0.174
18	2909680	C	A	18	2909682	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00312990421522945	0.104
18	2909680	C	G	18	2909682	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.16415673566022E-4	0.032
18	2909680	C	T	18	2909682	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.34888665060902E-4	0.0
18	2909681	T	A	18	2909683	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.998122451074989	0.944
18	2909681	T	C	18	2909683	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.8330892717014E-6	0.008
18	2909681	T	G	18	2909683	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.03271649855344E-4	0.072
18	2909682	G	A	18	2909684	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.1693978484741E-5	0.0
18	2909682	G	C	18	2909684	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.94678220272134E-5	0.01
18	2909682	G	T	18	2909684	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.71238399048772E-5	0.002
18	2909683	C	A	18	2909685	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.72550007710776E-4	0.054
18	2909683	C	G	18	2909685	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.43443111050053E-4	0.026
18	2909683	C	T	18	2909685	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.75937740640387E-5	0.0
18	2909684	T	A	18	2909686	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0028920633334023	0.212
18	2909684	T	C	18	2909686	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.01594506931576E-5	0.008
18	2909684	T	G	18	2909686	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00264142601620838	0.258
18	2909685	C	A	18	2909687	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.86179391700519E-5	0.002
18	2909685	C	G	18	2909687	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.86179391700519E-5	0.002
18	2909685	C	T	18	2909687	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.59307214980365E-5	0.0
18	2909686	C	A	18	2909688	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.960845919762823	0.568
18	2909686	C	G	18	2909688	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.987537433327698	0.854
18	2909686	C	T	18	2909688	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00209524252272969	0.136
18	2909687	A	C	18	2909689	y	y	splicing	EMILIN2(NM_032048:exon7:c.2696-2A>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2696-2A>C)	.	.	0.999989378869813	0.75
18	2909687	A	G	18	2909689	y	y	splicing	EMILIN2(NM_032048:exon7:c.2696-2A>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2696-2A>G)	.	.	0.999989378869813	0.75
18	2909687	A	T	18	2909689	y	y	splicing	EMILIN2(NM_032048:exon7:c.2696-2A>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2696-2A>T)	.	.	0.999984399620937	0.736
18	2909688	G	A	18	2909690	y	y	splicing	EMILIN2(NM_032048:exon7:c.2696-1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2696-1G>A)	.	.	0.99996469115006	0.906
18	2909688	G	C	18	2909690	y	y	splicing	EMILIN2(NM_032048:exon7:c.2696-1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2696-1G>C)	.	.	0.999965722254998	0.884
18	2909688	G	T	18	2909690	y	y	splicing	EMILIN2(NM_032048:exon7:c.2696-1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2696-1G>T)	.	.	0.999965722254998	0.862
18	2909689	G	A	18	2909691	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.G2696A:p.G899E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.G2696A:p.G899E;	0.0119243460300976	0.288
18	2909689	G	C	18	2909691	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.G2696C:p.G899A;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.G2696C:p.G899A;	0.0525977115144459	0.406
18	2909689	G	T	18	2909691	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.G2696T:p.G899V;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.G2696T:p.G899V;	0.397237740351246	0.362
18	2909690	A	C	18	2909692	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon7:c.A2697C:p.G899G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.A2697C:p.G899G;	2.08833041137802E-5	0.0
18	2909690	A	G	18	2909692	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon7:c.A2697G:p.G899G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.A2697G:p.G899G;	1.39988439782355E-5	0.022
18	2909690	A	T	18	2909692	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon7:c.A2697T:p.G899G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.A2697T:p.G899G;	4.97167565527772E-6	0.0
18	2909815	C	A	18	2909817	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.C2822A:p.T941N;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.C2822A:p.T941N;	0.95714251774908	0.768
18	2909815	C	G	18	2909817	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.C2822G:p.T941S;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.C2822G:p.T941S;	0.925740154256221	0.574
18	2909815	C	T	18	2909817	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.C2822T:p.T941I;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.C2822T:p.T941I;	0.998735343085668	0.572
18	2909816	C	A	18	2909818	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon7:c.C2823A:p.T941T;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.C2823A:p.T941T;	3.60575203032249E-5	0.116
18	2909816	C	G	18	2909818	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon7:c.C2823G:p.T941T;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.C2823G:p.T941T;	7.59934991146994E-5	0.07
18	2909816	C	T	18	2909818	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon7:c.C2823T:p.T941T;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.C2823T:p.T941T;	9.8244502034895E-5	0.074
18	2909817	G	A	18	2909819	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.G2824A:p.G942R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.G2824A:p.G942R;	0.99997193042526	0.988
18	2909817	G	C	18	2909819	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.G2824C:p.G942R;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.G2824C:p.G942R;	0.999989474204445	0.976
18	2909817	G	T	18	2909819	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon7:c.G2824T:p.G942W;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon7:c.G2824T:p.G942W;	0.999965310556321	0.92
18	2909818	G	A	18	2909820	y	y	splicing	EMILIN2(NM_032048:exon7:c.2824+1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2824+1G>A)	.	.	0.999971209564868	0.938
18	2909818	G	C	18	2909820	y	y	splicing	EMILIN2(NM_032048:exon7:c.2824+1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2824+1G>C)	.	.	0.999960597114489	0.908
18	2909818	G	T	18	2909820	y	y	splicing	EMILIN2(NM_032048:exon7:c.2824+1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2824+1G>T)	.	.	0.999970205305079	0.926
18	2909819	T	A	18	2909821	y	y	splicing	EMILIN2(NM_032048:exon7:c.2824+2T>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2824+2T>A)	.	.	0.999951957019574	0.888
18	2909819	T	C	18	2909821	y	y	splicing	EMILIN2(NM_032048:exon7:c.2824+2T>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2824+2T>C)	.	.	0.999771428556927	0.832
18	2909819	T	G	18	2909821	y	y	splicing	EMILIN2(NM_032048:exon7:c.2824+2T>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon7:c.2824+2T>G)	.	.	0.999971317418422	0.894
18	2909820	G	A	18	2909822	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.60178275198005E-5	0.0
18	2909820	G	C	18	2909822	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0609307134642911	0.298
18	2909820	G	T	18	2909822	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.19971512977239	0.316
18	2909821	A	C	18	2909823	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.156306171262455	0.332
18	2909821	A	G	18	2909823	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.37264273096808	0.462
18	2909821	A	T	18	2909823	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.976512026453558	0.556
18	2909822	G	A	18	2909824	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999722090164168	0.794
18	2909822	G	C	18	2909824	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999781661339586	0.76
18	2909822	G	T	18	2909824	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.999796726680301	0.688
18	2909823	T	A	18	2909825	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0054572519267681	0.032
18	2909823	T	C	18	2909825	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0068061176629886	0.116
18	2909823	T	G	18	2909825	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.67817112724544E-4	0.042
18	2909824	G	A	18	2909826	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.1090379947797E-5	0.0
18	2909824	G	C	18	2909826	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.1090379947797E-5	0.0
18	2909824	G	T	18	2909826	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	8.68932966235553E-5	0.0
18	2909825	T	A	18	2909827	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.55577791009709E-5	0.008
18	2909825	T	C	18	2909827	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.42005417025298E-5	0.0
18	2909825	T	G	18	2909827	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.00720376625508E-5	0.0
18	2913053	T	A	18	2913055	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.47296268127018E-4	0.092
18	2913053	T	C	18	2913055	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.78528473558838E-5	0.006
18	2913053	T	G	18	2913055	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.28651921939524E-4	0.108
18	2913054	T	A	18	2913056	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.20457654382562E-4	0.066
18	2913054	T	C	18	2913056	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.35490390004789E-4	0.02
18	2913054	T	G	18	2913056	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.08609704621241E-4	0.082
18	2913055	C	A	18	2913057	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.98523677658194E-4	0.03
18	2913055	C	G	18	2913057	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.99421634107575E-4	0.018
18	2913055	C	T	18	2913057	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.28749085381226E-5	0.006
18	2913056	T	A	18	2913058	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0180884841750175	0.214
18	2913056	T	C	18	2913058	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.13867213076775E-4	0.028
18	2913056	T	G	18	2913058	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.0048094421498432	0.168
18	2913057	C	A	18	2913059	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00121097724001693	0.044
18	2913057	C	G	18	2913059	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.8734874902139E-4	0.028
18	2913057	C	T	18	2913059	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	5.28125313101864E-5	0.006
18	2913058	C	A	18	2913060	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00520732806542028	0.12
18	2913058	C	G	18	2913060	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00303796802728354	0.088
18	2913058	C	T	18	2913060	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.75898260283143E-4	0.014
18	2913059	C	A	18	2913061	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.97730979541959E-4	0.054
18	2913059	C	G	18	2913061	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	7.63379938640018E-4	0.05
18	2913059	C	T	18	2913061	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.45419170042957E-5	0.036
18	2913060	C	A	18	2913062	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.81470661357744	0.626
18	2913060	C	G	18	2913062	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	1.10554663613274E-4	0.012
18	2913060	C	T	18	2913062	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	2.31289757000733E-5	0.0
18	2913061	G	A	18	2913063	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	6.90384828665105E-5	0.0
18	2913061	G	C	18	2913063	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	3.03487685533579E-5	0.002
18	2913061	G	T	18	2913063	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	4.12501173802348E-5	0.004
18	2913062	C	A	18	2913064	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.252086218231544	0.434
18	2913062	C	G	18	2913064	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.99978734232343	0.91
18	2913062	C	T	18	2913064	y	y	intronic	EMILIN2	.	.	intronic	ENSG00000132205	.	.	0.00177185812683356	0.106
18	2913063	A	C	18	2913065	y	y	splicing	EMILIN2(NM_032048:exon8:c.2825-2A>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon8:c.2825-2A>C)	.	.	0.999971317418422	0.892
18	2913063	A	G	18	2913065	y	y	splicing	EMILIN2(NM_032048:exon8:c.2825-2A>G)	.	.	splicing	ENSG00000132205(ENST00000254528:exon8:c.2825-2A>G)	.	.	0.999971317418422	0.888
18	2913063	A	T	18	2913065	y	y	splicing	EMILIN2(NM_032048:exon8:c.2825-2A>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon8:c.2825-2A>T)	.	.	0.999963671976247	0.914
18	2913064	G	A	18	2913066	y	y	splicing	EMILIN2(NM_032048:exon8:c.2825-1G>A)	.	.	splicing	ENSG00000132205(ENST00000254528:exon8:c.2825-1G>A)	.	.	0.999956786857988	0.938
18	2913064	G	C	18	2913066	y	y	splicing	EMILIN2(NM_032048:exon8:c.2825-1G>C)	.	.	splicing	ENSG00000132205(ENST00000254528:exon8:c.2825-1G>C)	.	.	0.999955279531929	0.936
18	2913064	G	T	18	2913066	y	y	splicing	EMILIN2(NM_032048:exon8:c.2825-1G>T)	.	.	splicing	ENSG00000132205(ENST00000254528:exon8:c.2825-1G>T)	.	.	0.999956786857988	0.938
18	2913065	G	A	18	2913067	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon8:c.G2825A:p.G942E;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon8:c.G2825A:p.G942E;	0.998554142900166	0.81
18	2913065	G	C	18	2913067	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon8:c.G2825C:p.G942A;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon8:c.G2825C:p.G942A;	0.99947672010161	0.86
18	2913065	G	T	18	2913067	y	y	exonic	EMILIN2	nonsynonymous SNV	EMILIN2:NM_032048:exon8:c.G2825T:p.G942V;	exonic	ENSG00000132205	nonsynonymous SNV	ENSG00000132205:ENST00000254528:exon8:c.G2825T:p.G942V;	0.999742266487518	0.938
18	2913066	G	A	18	2913068	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon8:c.G2826A:p.G942G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon8:c.G2826A:p.G942G;	1.14244663874453E-5	0.008
18	2913066	G	C	18	2913068	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon8:c.G2826C:p.G942G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon8:c.G2826C:p.G942G;	7.81436994014243E-6	0.006
18	2913066	G	T	18	2913068	y	y	exonic	EMILIN2	synonymous SNV	EMILIN2:NM_032048:exon8:c.G2826T:p.G942G;	exonic	ENSG00000132205	synonymous SNV	ENSG00000132205:ENST00000254528:exon8:c.G2826T:p.G942G;	4.05765255349388E-6	0.002
18	2920434	A	C	18	2920436	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon20:c.T2548G:p.Y850D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon20:c.T2548G:p.Y850D;	0.485749835415186	0.58
18	2920434	A	G	18	2920436	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon20:c.T2548C:p.Y850H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon20:c.T2548C:p.Y850H;	0.459038527379697	0.604
18	2920434	A	T	18	2920436	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon20:c.T2548A:p.Y850N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon20:c.T2548A:p.Y850N;	0.481694349239664	0.614
18	2920435	C	A	18	2920437	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon20:c.G2547T:p.S849S;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon20:c.G2547T:p.S849S;	0.734899505205046	0.654
18	2920435	C	G	18	2920437	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon20:c.G2547C:p.S849S;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon20:c.G2547C:p.S849S;	0.437934184878614	0.504
18	2920435	C	T	18	2920437	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon20:c.G2547A:p.S849S;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon20:c.G2547A:p.S849S;	0.0515465206010622	0.3
18	2920436	C	A	18	2920438	y	y	splicing	LPIN2(NM_014646:exon21:c.2547-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon21:c.2547-1G>T)	.	.	0.999982737877662	0.932
18	2920436	C	G	18	2920438	y	y	splicing	LPIN2(NM_014646:exon21:c.2547-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon21:c.2547-1G>C)	.	.	0.99995545544995	0.932
18	2920436	C	T	18	2920438	y	y	splicing	LPIN2(NM_014646:exon21:c.2547-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon21:c.2547-1G>A)	.	.	0.999982737877662	0.938
18	2920437	T	A	18	2920439	y	y	splicing	LPIN2(NM_014646:exon21:c.2547-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon21:c.2547-2A>T)	.	.	0.99994568797423	0.948
18	2920437	T	C	18	2920439	y	y	splicing	LPIN2(NM_014646:exon21:c.2547-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon21:c.2547-2A>G)	.	.	0.999946188727699	0.948
18	2920437	T	G	18	2920439	y	y	splicing	LPIN2(NM_014646:exon21:c.2547-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon21:c.2547-2A>C)	.	.	0.999946188727699	0.948
18	2920438	A	C	18	2920440	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.985455683479348	0.668
18	2920438	A	G	18	2920440	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.04374524448845E-4	0.016
18	2920438	A	T	18	2920440	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00531127197832518	0.174
18	2920439	A	C	18	2920441	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.69990071913338E-4	0.0
18	2920439	A	G	18	2920441	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.74269421163843E-4	0.0
18	2920439	A	T	18	2920441	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.70552237047926E-5	0.016
18	2920440	G	A	18	2920442	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.45585287119125E-5	0.016
18	2920440	G	C	18	2920442	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.97975089689403E-5	0.014
18	2920440	G	T	18	2920442	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.87614681524045E-5	0.008
18	2920441	A	C	18	2920443	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00671220892042335	0.12
18	2920441	A	G	18	2920443	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.25259521285657E-5	0.002
18	2920441	A	T	18	2920443	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00167516443335378	0.074
18	2920442	G	A	18	2920444	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.13511596985299E-4	0.036
18	2920442	G	C	18	2920444	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00162666151308217	0.156
18	2920442	G	T	18	2920444	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00809805445878766	0.164
18	2920443	A	C	18	2920445	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.12770523294966E-4	0.048
18	2920443	A	G	18	2920445	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.05601921774885E-5	0.0
18	2920443	A	T	18	2920445	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00133971808091416	0.032
18	2920444	A	C	18	2920446	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00206403267063956	0.202
18	2920444	A	G	18	2920446	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.52492478898489E-5	0.0
18	2920444	A	T	18	2920446	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0036205554401209	0.176
18	2920445	A	C	18	2920447	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00118287908237117	0.15
18	2920445	A	G	18	2920447	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.95111467322963E-5	0.0
18	2920445	A	T	18	2920447	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00369957142729088	0.152
18	2920446	G	A	18	2920448	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.05043145141162E-5	0.02
18	2920446	G	C	18	2920448	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.06539902311386E-4	0.05
18	2920446	G	T	18	2920448	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.51628451860579E-5	0.046
18	2920447	G	A	18	2920449	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.57380088897321E-5	0.0
18	2920447	G	C	18	2920449	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998903582906554	0.964
18	2920447	G	T	18	2920449	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.52523772841678E-4	0.03
18	2920768	G	A	18	2920770	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.53436776239302E-6	0.0
18	2920768	G	C	18	2920770	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.56379153354524E-5	0.004
18	2920768	G	T	18	2920770	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.41820354886185E-5	0.002
18	2920769	T	A	18	2920771	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.2755884071706E-5	0.002
18	2920769	T	C	18	2920771	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.2755884071706E-5	0.0
18	2920769	T	G	18	2920771	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.60029122859341E-5	0.0
18	2920770	A	C	18	2920772	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.904747969816729	0.646
18	2920770	A	G	18	2920772	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.690576541088489	0.682
18	2920770	A	T	18	2920772	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.82501855206432	0.56
18	2920771	C	A	18	2920773	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999970926795463	0.932
18	2920771	C	G	18	2920773	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999986002829811	0.992
18	2920771	C	T	18	2920773	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999979324697268	0.996
18	2920772	T	A	18	2920774	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998870095517804	0.94
18	2920772	T	C	18	2920774	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998590592193341	0.992
18	2920772	T	G	18	2920774	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998895753992897	0.89
18	2920773	T	A	18	2920775	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999914412549937	0.952
18	2920773	T	C	18	2920775	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.129862272683828	0.368
18	2920773	T	G	18	2920775	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999348338336291	0.958
18	2920774	A	C	18	2920776	y	y	splicing	LPIN2(NM_014646:exon20:c.2546+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2546+2T>G)	.	.	0.999988247793601	0.932
18	2920774	A	G	18	2920776	y	y	splicing	LPIN2(NM_014646:exon20:c.2546+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2546+2T>C)	.	.	0.995320650369382	0.71
18	2920774	A	T	18	2920776	y	y	splicing	LPIN2(NM_014646:exon20:c.2546+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2546+2T>A)	.	.	0.999988247793601	0.932
18	2920775	C	A	18	2920777	y	y	splicing	LPIN2(NM_014646:exon20:c.2546+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2546+1G>T)	.	.	0.999990361384395	0.938
18	2920775	C	G	18	2920777	y	y	splicing	LPIN2(NM_014646:exon20:c.2546+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2546+1G>C)	.	.	0.999990361384395	0.938
18	2920775	C	T	18	2920777	y	y	splicing	LPIN2(NM_014646:exon20:c.2546+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2546+1G>A)	.	.	0.999990361384395	0.938
18	2920776	G	A	18	2920778	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.C2546T:p.S849L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.C2546T:p.S849L;	0.990351906502279	0.824
18	2920776	G	C	18	2920778	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.C2546G:p.S849W;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.C2546G:p.S849W;	0.905689357812945	0.514
18	2920776	G	T	18	2920778	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon19:c.C2546A:p.S849X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon19:c.C2546A:p.S849X;	0.970475984425306	0.832
18	2920777	A	C	18	2920779	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.T2545G:p.S849A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.T2545G:p.S849A;	0.990289307124459	0.936
18	2920777	A	G	18	2920779	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.T2545C:p.S849P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.T2545C:p.S849P;	0.98231148061141	0.94
18	2920777	A	T	18	2920779	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.T2545A:p.S849T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.T2545A:p.S849T;	0.787984061405965	0.668
18	2920778	T	A	18	2920780	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon19:c.A2544T:p.S848S;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.A2544T:p.S848S;	0.00318705766628965	0.158
18	2920778	T	C	18	2920780	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon19:c.A2544G:p.S848S;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.A2544G:p.S848S;	4.68568468144883E-4	0.03
18	2920778	T	G	18	2920780	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon19:c.A2544C:p.S848S;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.A2544C:p.S848S;	1.90235550975886E-4	0.018
18	2920878	T	A	18	2920880	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.A2444T:p.D815V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.A2444T:p.D815V;	0.868666599350842	0.838
18	2920878	T	C	18	2920880	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.A2444G:p.D815G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.A2444G:p.D815G;	0.926018808235781	0.644
18	2920878	T	G	18	2920880	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.A2444C:p.D815A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.A2444C:p.D815A;	0.94596179658999	0.868
18	2920879	C	A	18	2920881	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.G2443T:p.D815Y;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.G2443T:p.D815Y;	0.99970623257157	0.932
18	2920879	C	G	18	2920881	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.G2443C:p.D815H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.G2443C:p.D815H;	0.999696107012139	0.944
18	2920879	C	T	18	2920881	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon19:c.G2443A:p.D815N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon19:c.G2443A:p.D815N;	0.997964305498654	0.836
18	2920880	C	A	18	2920882	y	y	splicing	LPIN2(NM_014646:exon20:c.2443-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2443-1G>T)	.	.	0.999983327830521	0.936
18	2920880	C	G	18	2920882	y	y	splicing	LPIN2(NM_014646:exon20:c.2443-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2443-1G>C)	.	.	0.999983327830521	0.936
18	2920880	C	T	18	2920882	y	y	splicing	LPIN2(NM_014646:exon20:c.2443-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2443-1G>A)	.	.	0.999983327830521	0.936
18	2920881	T	A	18	2920883	y	y	splicing	LPIN2(NM_014646:exon20:c.2443-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2443-2A>T)	.	.	0.999982603165682	0.92
18	2920881	T	C	18	2920883	y	y	splicing	LPIN2(NM_014646:exon20:c.2443-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2443-2A>G)	.	.	0.999955107838025	0.92
18	2920881	T	G	18	2920883	y	y	splicing	LPIN2(NM_014646:exon20:c.2443-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon20:c.2443-2A>C)	.	.	0.999975750423868	0.92
18	2920882	G	A	18	2920884	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00141168764062265	0.02
18	2920882	G	C	18	2920884	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999853536591612	0.892
18	2920882	G	T	18	2920884	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.706334515170098	0.488
18	2920883	C	A	18	2920885	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.37820680579652E-5	0.0
18	2920883	C	G	18	2920885	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.36569543504889E-5	0.002
18	2920883	C	T	18	2920885	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.37820680579652E-5	0.002
18	2920884	A	C	18	2920886	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00583947975466391	0.23
18	2920884	A	G	18	2920886	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.92996188491103E-4	0.04
18	2920884	A	T	18	2920886	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.99232448526139	0.744
18	2920885	G	A	18	2920887	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.5050632435796E-5	0.014
18	2920885	G	C	18	2920887	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.94392547373549E-4	0.14
18	2920885	G	T	18	2920887	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.7347819542898E-5	0.104
18	2920886	A	C	18	2920888	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.69913975201022E-4	0.034
18	2920886	A	G	18	2920888	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.68133215594726E-5	0.0
18	2920886	A	T	18	2920888	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.08349190623571E-4	0.036
18	2920887	A	C	18	2920889	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.71338532970385E-4	0.04
18	2920887	A	G	18	2920889	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.11048232844599E-5	0.0
18	2920887	A	T	18	2920889	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.42735283563808E-5	0.048
18	2920888	G	A	18	2920890	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.32106453712457E-4	0.006
18	2920888	G	C	18	2920890	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.19549624177736E-4	0.028
18	2920888	G	T	18	2920890	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.01868313855102E-4	0.048
18	2920889	A	C	18	2920891	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.29485772235816E-4	0.048
18	2920889	A	G	18	2920891	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.14427579332453E-5	0.0
18	2920889	A	T	18	2920891	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.57895820843573E-4	0.032
18	2920890	A	C	18	2920892	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.03801038789751E-5	0.076
18	2920890	A	G	18	2920892	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.32815057211625E-5	0.008
18	2920890	A	T	18	2920892	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.79070001132086E-4	0.086
18	2920891	A	C	18	2920893	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.99251165434743E-4	0.058
18	2920891	A	G	18	2920893	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.0048279350507E-4	0.0
18	2920891	A	T	18	2920893	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.19953730021583E-4	0.078
18	2921523	A	C	18	2921525	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	8.29837473279948E-4	0.014
18	2921523	A	G	18	2921525	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	8.34176949421268E-4	0.014
18	2921523	A	T	18	2921525	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	8.34176949421268E-4	0.014
18	2921524	T	A	18	2921526	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	9.89104707939575E-5	0.132
18	2921524	T	C	18	2921526	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	4.71767611952139E-5	0.046
18	2921524	T	G	18	2921526	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	2.53604170614584E-5	0.05
18	2921525	A	C	18	2921527	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.859661177753392	0.592
18	2921525	A	G	18	2921527	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.889812933250909	0.546
18	2921525	A	T	18	2921527	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.962090557805808	0.62
18	2921526	C	A	18	2921528	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999973756785616	0.992
18	2921526	C	G	18	2921528	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999257529164679	0.944
18	2921526	C	T	18	2921528	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999973756785616	0.974
18	2921527	T	A	18	2921529	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.997173501719994	0.804
18	2921527	T	C	18	2921529	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.986633262790005	0.826
18	2921527	T	G	18	2921529	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.833296602194554	0.62
18	2921528	C	A	18	2921530	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.576456130965965	0.38
18	2921528	C	G	18	2921530	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.265695290401745	0.428
18	2921528	C	T	18	2921530	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	1.79460626224071E-5	0.0
18	2921529	A	C	18	2921531	y	n	splicing	LPIN2(NM_014646:exon19:c.2442+2T>G)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999988247793601	0.926
18	2921529	A	G	18	2921531	y	n	splicing	LPIN2(NM_014646:exon19:c.2442+2T>C)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.99991520749976	0.86
18	2921529	A	T	18	2921531	y	n	splicing	LPIN2(NM_014646:exon19:c.2442+2T>A)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999988247793601	0.928
18	2921530	C	A	18	2921532	y	n	splicing	LPIN2(NM_014646:exon19:c.2442+1G>T)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999986675681007	0.932
18	2921530	C	G	18	2921532	y	n	splicing	LPIN2(NM_014646:exon19:c.2442+1G>C)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999986675681007	0.932
18	2921530	C	T	18	2921532	y	n	splicing	LPIN2(NM_014646:exon19:c.2442+1G>A)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999986675681007	0.932
18	2921531	A	C	18	2921533	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.T2442G:p.N814K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.T2442G:p.N814K;	2.35866327756886E-4	0.404
18	2921531	A	G	18	2921533	y	n	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon18:c.T2442C:p.N814N;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.T2442C:p.N814N;	8.26511708993915E-4	0.162
18	2921531	A	T	18	2921533	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.T2442A:p.N814K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.T2442A:p.N814K;	9.6034092186181E-5	0.254
18	2921532	T	A	18	2921534	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.A2441T:p.N814I;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2441T:p.N814I;	0.998597906204447	0.928
18	2921532	T	C	18	2921534	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.A2441G:p.N814S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2441G:p.N814S;	0.994795371370632	0.9
18	2921532	T	G	18	2921534	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.A2441C:p.N814T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2441C:p.N814T;	0.996701861589791	0.91
18	2921533	T	A	18	2921535	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.A2440T:p.N814Y;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2440T:p.N814Y;	0.963032039775406	0.684
18	2921533	T	C	18	2921535	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.A2440G:p.N814D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2440G:p.N814D;	0.189356588040372	0.388
18	2921533	T	G	18	2921535	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.A2440C:p.N814H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2440C:p.N814H;	0.727923506649257	0.742
18	2921644	C	A	18	2921646	y	n	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon18:c.G2329T:p.E777X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon18:c.G2329T:p.E777X;	0.983780949364485	0.932
18	2921644	C	G	18	2921646	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.G2329C:p.E777Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.G2329C:p.E777Q;	0.975051390192538	0.882
18	2921644	C	T	18	2921646	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.G2329A:p.E777K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.G2329A:p.E777K;	0.983478447528776	0.836
18	2921645	T	A	18	2921647	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.A2328T:p.R776S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2328T:p.R776S;	9.95153381726864E-5	0.036
18	2921645	T	C	18	2921647	y	n	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon18:c.A2328G:p.R776R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2328G:p.R776R;	8.88522680711788E-6	0.0
18	2921645	T	G	18	2921647	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon18:c.A2328C:p.R776S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon18:c.A2328C:p.R776S;	3.42671000194269E-4	0.044
18	2921646	C	A	18	2921648	y	n	splicing	LPIN2(NM_014646:exon19:c.2328-1G>T)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999949496871441	0.946
18	2921646	C	G	18	2921648	y	n	splicing	LPIN2(NM_014646:exon19:c.2328-1G>C)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999949962508874	0.946
18	2921646	C	T	18	2921648	y	n	splicing	LPIN2(NM_014646:exon19:c.2328-1G>A)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999949496871441	0.946
18	2921647	T	A	18	2921649	y	n	splicing	LPIN2(NM_014646:exon19:c.2328-2A>T)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999969255906173	0.864
18	2921647	T	C	18	2921649	y	n	splicing	LPIN2(NM_014646:exon19:c.2328-2A>G)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999969255906173	0.848
18	2921647	T	G	18	2921649	y	n	splicing	LPIN2(NM_014646:exon19:c.2328-2A>C)	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999969255906173	0.848
18	2921648	A	C	18	2921650	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.902597570931907	0.65
18	2921648	A	G	18	2921650	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	1.3653585243671E-4	0.0
18	2921648	A	T	18	2921650	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.0168399559136908	0.126
18	2921649	A	C	18	2921651	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	2.66788996267205E-5	0.002
18	2921649	A	G	18	2921651	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	1.34016236007148E-5	0.0
18	2921649	A	T	18	2921651	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	2.59391841403743E-5	0.002
18	2921650	G	A	18	2921652	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	5.26405944770911E-5	0.002
18	2921650	G	C	18	2921652	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.117255605442612	0.198
18	2921650	G	T	18	2921652	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.00965865739187095	0.07
18	2921651	A	C	18	2921653	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.00322332423328459	0.146
18	2921651	A	G	18	2921653	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	6.25724783221343E-5	0.0
18	2921651	A	T	18	2921653	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.00116763923442836	0.118
18	2921652	A	C	18	2921654	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	1.15550272900838E-4	0.042
18	2921652	A	G	18	2921654	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	5.14810445317747E-5	0.0
18	2921652	A	T	18	2921654	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	8.53676133298598E-4	0.094
18	2921653	A	C	18	2921655	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	2.77736589130273E-5	0.076
18	2921653	A	G	18	2921655	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	1.1574581113304E-5	0.006
18	2921653	A	T	18	2921655	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	6.20168332784181E-5	0.082
18	2921654	A	C	18	2921656	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	2.76887375891787E-4	0.188
18	2921654	A	G	18	2921656	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	6.88163522844003E-5	0.004
18	2921654	A	T	18	2921656	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	1.77966853837681E-4	0.21
18	2921655	A	C	18	2921657	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.0012526838617854	0.096
18	2921655	A	G	18	2921657	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	8.84492695579299E-5	0.0
18	2921655	A	T	18	2921657	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.001936651662966	0.096
18	2921656	A	C	18	2921658	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.0018199683714356	0.146
18	2921656	A	G	18	2921658	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	6.35500106563021E-5	0.036
18	2921656	A	T	18	2921658	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.00371805385355919	0.168
18	2921657	A	C	18	2921659	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.999737726889663	0.978
18	2921657	A	G	18	2921659	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	9.98611140609995E-5	0.0
18	2921657	A	T	18	2921659	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000272625	.	.	0.00154597572394212	0.134
18	2922037	A	C	18	2922039	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.84017749712205E-5	0.008
18	2922037	A	G	18	2922039	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.11203329754734E-5	0.002
18	2922037	A	T	18	2922039	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.20365804450954E-4	0.004
18	2922038	G	A	18	2922040	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.82064025149294E-4	0.0
18	2922038	G	C	18	2922040	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.22926765743592E-4	0.0
18	2922038	G	T	18	2922040	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.36382355702771E-5	0.0
18	2922039	A	C	18	2922041	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.07464192681318E-4	0.198
18	2922039	A	G	18	2922041	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00707025458419692	0.198
18	2922039	A	T	18	2922041	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00323297555614801	0.13
18	2922040	G	A	18	2922042	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.70582608182765E-5	0.0
18	2922040	G	C	18	2922042	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.58529547373059E-5	0.018
18	2922040	G	T	18	2922042	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.31747015529795E-5	0.004
18	2922041	G	A	18	2922043	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.48392508918663E-4	0.022
18	2922041	G	C	18	2922043	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.97643418330289E-4	0.028
18	2922041	G	T	18	2922043	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.34065050848061E-4	0.048
18	2922042	T	A	18	2922044	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999831118772877	0.812
18	2922042	T	C	18	2922044	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.677034621879783	0.554
18	2922042	T	G	18	2922044	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999716220527068	0.85
18	2922043	A	C	18	2922045	y	y	splicing	LPIN2(NM_014646:exon18:c.2327+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2327+2T>G)	.	.	0.999988247793601	0.926
18	2922043	A	G	18	2922045	y	y	splicing	LPIN2(NM_014646:exon18:c.2327+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2327+2T>C)	.	.	0.985752408902503	0.616
18	2922043	A	T	18	2922045	y	y	splicing	LPIN2(NM_014646:exon18:c.2327+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2327+2T>A)	.	.	0.999988247793601	0.928
18	2922044	C	A	18	2922046	y	y	splicing	LPIN2(NM_014646:exon18:c.2327+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2327+1G>T)	.	.	0.999986675681007	0.934
18	2922044	C	G	18	2922046	y	y	splicing	LPIN2(NM_014646:exon18:c.2327+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2327+1G>C)	.	.	0.999986675681007	0.934
18	2922044	C	T	18	2922046	y	y	splicing	LPIN2(NM_014646:exon18:c.2327+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2327+1G>A)	.	.	0.999986675681007	0.934
18	2922045	C	A	18	2922047	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.G2327T:p.R776I;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.G2327T:p.R776I;	0.999973736932415	0.992
18	2922045	C	G	18	2922047	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.G2327C:p.R776T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.G2327C:p.R776T;	0.999995003380769	0.996
18	2922045	C	T	18	2922047	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.G2327A:p.R776K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.G2327A:p.R776K;	0.999995519143356	0.998
18	2922046	T	A	18	2922048	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon17:c.A2326T:p.R776X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon17:c.A2326T:p.R776X;	0.999909196918191	0.998
18	2922046	T	C	18	2922048	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.A2326G:p.R776G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.A2326G:p.R776G;	0.999904029986744	0.996
18	2922046	T	G	18	2922048	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon17:c.A2326C:p.R776R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.A2326C:p.R776R;	0.998463696470513	0.982
18	2922047	G	A	18	2922049	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon17:c.C2325T:p.H775H;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.C2325T:p.H775H;	0.984078706824407	0.692
18	2922047	G	C	18	2922049	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.C2325G:p.H775Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.C2325G:p.H775Q;	0.939064247027328	0.662
18	2922047	G	T	18	2922049	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.C2325A:p.H775Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.C2325A:p.H775Q;	0.956821436458997	0.82
18	2922196	T	A	18	2922198	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.A2176T:p.N726Y;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.A2176T:p.N726Y;	0.782447000431964	0.76
18	2922196	T	C	18	2922198	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.A2176G:p.N726D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.A2176G:p.N726D;	0.793842069319255	0.734
18	2922196	T	G	18	2922198	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.A2176C:p.N726H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.A2176C:p.N726H;	0.842923977548283	0.798
18	2922197	C	A	18	2922199	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.G2175T:p.E725D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.G2175T:p.E725D;	0.870334257090833	0.748
18	2922197	C	G	18	2922199	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon17:c.G2175C:p.E725D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.G2175C:p.E725D;	0.713590245865043	0.742
18	2922197	C	T	18	2922199	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon17:c.G2175A:p.E725E;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon17:c.G2175A:p.E725E;	0.0416777434432099	0.27
18	2922198	C	A	18	2922200	y	y	splicing	LPIN2(NM_014646:exon18:c.2175-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2175-1G>T)	.	.	0.999986675681007	0.934
18	2922198	C	G	18	2922200	y	y	splicing	LPIN2(NM_014646:exon18:c.2175-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2175-1G>C)	.	.	0.999986675681007	0.934
18	2922198	C	T	18	2922200	y	y	splicing	LPIN2(NM_014646:exon18:c.2175-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2175-1G>A)	.	.	0.999986675681007	0.934
18	2922199	T	A	18	2922201	y	y	splicing	LPIN2(NM_014646:exon18:c.2175-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2175-2A>T)	.	.	0.999988247793601	0.928
18	2922199	T	C	18	2922201	y	y	splicing	LPIN2(NM_014646:exon18:c.2175-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2175-2A>G)	.	.	0.999988247793601	0.928
18	2922199	T	G	18	2922201	y	y	splicing	LPIN2(NM_014646:exon18:c.2175-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon18:c.2175-2A>C)	.	.	0.999988247793601	0.928
18	2922200	G	A	18	2922202	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00425839421297389	0.048
18	2922200	G	C	18	2922202	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999522839611361	0.93
18	2922200	G	T	18	2922202	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.510073154214992	0.558
18	2922201	A	C	18	2922203	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.19595491139881E-4	0.0
18	2922201	A	G	18	2922203	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.53289296438362E-4	0.004
18	2922201	A	T	18	2922203	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.60607994659828E-4	0.03
18	2922202	A	C	18	2922204	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.873895001660336	0.71
18	2922202	A	G	18	2922204	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0177897853004254	0.076
18	2922202	A	T	18	2922204	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.515610523525341	0.648
18	2922203	A	C	18	2922205	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.728800636328243	0.46
18	2922203	A	G	18	2922205	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.99715412127057E-4	0.004
18	2922203	A	T	18	2922205	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.3824629624961	0.384
18	2922204	G	A	18	2922206	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.00534942716828E-4	0.0
18	2922204	G	C	18	2922206	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00296721975861467	0.054
18	2922204	G	T	18	2922206	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00308727455874167	0.076
18	2922205	A	C	18	2922207	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0213365874628516	0.222
18	2922205	A	G	18	2922207	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.8122440494101E-4	0.008
18	2922205	A	T	18	2922207	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.164200143118154	0.214
18	2922206	A	C	18	2922208	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.016299009691256	0.144
18	2922206	A	G	18	2922208	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.8887531542026E-5	0.036
18	2922206	A	T	18	2922208	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0596913869265783	0.168
18	2922207	A	C	18	2922209	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0201582466639903	0.18
18	2922207	A	G	18	2922209	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.86234894931269E-4	0.006
18	2922207	A	T	18	2922209	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.122378639271486	0.31
18	2922208	A	C	18	2922210	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.847716218383565	0.59
18	2922208	A	G	18	2922210	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0723436906910405	0.21
18	2922208	A	T	18	2922210	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.927073844919165	0.636
18	2922209	C	A	18	2922211	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.91683211707006E-5	0.0
18	2922209	C	G	18	2922211	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.11848901048002E-5	0.006
18	2922209	C	T	18	2922211	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.64206187839346E-5	0.002
18	2923765	G	A	18	2923767	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.60937999353684E-4	0.022
18	2923765	G	C	18	2923767	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.29583607767487E-4	0.022
18	2923765	G	T	18	2923767	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.57539786052561E-4	0.07
18	2923766	T	A	18	2923768	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.86707124962572E-4	0.006
18	2923766	T	C	18	2923768	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.62941417394207E-4	0.004
18	2923766	T	G	18	2923768	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.38543562362355E-4	0.038
18	2923767	A	C	18	2923769	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.99545291757643	0.804
18	2923767	A	G	18	2923769	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.991045517514356	0.784
18	2923767	A	T	18	2923769	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.997188904238579	0.76
18	2923768	C	A	18	2923770	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999963137578115	0.94
18	2923768	C	G	18	2923770	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999977798794145	0.948
18	2923768	C	T	18	2923770	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999964660922757	0.978
18	2923769	C	A	18	2923771	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.16836044196446E-4	0.018
18	2923769	C	G	18	2923771	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.16836044196446E-4	0.188
18	2923769	C	T	18	2923771	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.53313879661106E-4	0.032
18	2923770	T	A	18	2923772	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999819012051354	0.836
18	2923770	T	C	18	2923772	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.930023306845303	0.548
18	2923770	T	G	18	2923772	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999634392494814	0.818
18	2923771	A	C	18	2923773	y	y	splicing	LPIN2(NM_014646:exon17:c.2174+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2174+2T>G)	.	.	0.999986741007567	0.944
18	2923771	A	G	18	2923773	y	y	splicing	LPIN2(NM_014646:exon17:c.2174+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2174+2T>C)	.	.	0.999465589020606	0.81
18	2923771	A	T	18	2923773	y	y	splicing	LPIN2(NM_014646:exon17:c.2174+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2174+2T>A)	.	.	0.999986741007567	0.944
18	2923772	C	A	18	2923774	y	y	splicing	LPIN2(NM_014646:exon17:c.2174+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2174+1G>T)	.	.	0.999989125585301	0.944
18	2923772	C	G	18	2923774	y	y	splicing	LPIN2(NM_014646:exon17:c.2174+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2174+1G>C)	.	.	0.999989125585301	0.944
18	2923772	C	T	18	2923774	y	y	splicing	LPIN2(NM_014646:exon17:c.2174+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2174+1G>A)	.	.	0.999989125585301	0.944
18	2923773	T	A	18	2923775	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.A2174T:p.E725V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.A2174T:p.E725V;	0.946168612788823	0.632
18	2923773	T	C	18	2923775	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.A2174G:p.E725G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.A2174G:p.E725G;	0.532722363008072	0.38
18	2923773	T	G	18	2923775	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.A2174C:p.E725A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.A2174C:p.E725A;	0.806728603828743	0.768
18	2923774	C	A	18	2923776	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon16:c.G2173T:p.E725X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon16:c.G2173T:p.E725X;	0.990429739481743	0.812
18	2923774	C	G	18	2923776	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.G2173C:p.E725Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.G2173C:p.E725Q;	0.99290381062541	0.868
18	2923774	C	T	18	2923776	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.G2173A:p.E725K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.G2173A:p.E725K;	0.977125277466969	0.664
18	2923775	A	C	18	2923777	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.T2172G:p.N724K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.T2172G:p.N724K;	1.96499472228397E-5	0.066
18	2923775	A	G	18	2923777	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon16:c.T2172C:p.N724N;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.T2172C:p.N724N;	2.23494123793528E-5	0.006
18	2923775	A	T	18	2923777	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.T2172A:p.N724K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.T2172A:p.N724K;	4.74165440451775E-5	0.294
18	2923858	A	C	18	2923860	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.T2089G:p.S697A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.T2089G:p.S697A;	0.485749835415186	0.592
18	2923858	A	G	18	2923860	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.T2089C:p.S697P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.T2089C:p.S697P;	0.667514923693454	0.576
18	2923858	A	T	18	2923860	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.T2089A:p.S697T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.T2089A:p.S697T;	0.441030849066493	0.576
18	2923859	C	A	18	2923861	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.G2088T:p.K696N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.G2088T:p.K696N;	0.985370537671683	0.862
18	2923859	C	G	18	2923861	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon16:c.G2088C:p.K696N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.G2088C:p.K696N;	0.980456202682452	0.836
18	2923859	C	T	18	2923861	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon16:c.G2088A:p.K696K;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon16:c.G2088A:p.K696K;	0.0623799935188228	0.39
18	2923860	C	A	18	2923862	y	y	splicing	LPIN2(NM_014646:exon17:c.2088-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2088-1G>T)	.	.	0.99995545544995	0.932
18	2923860	C	G	18	2923862	y	y	splicing	LPIN2(NM_014646:exon17:c.2088-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2088-1G>C)	.	.	0.99995545544995	0.932
18	2923860	C	T	18	2923862	y	y	splicing	LPIN2(NM_014646:exon17:c.2088-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2088-1G>A)	.	.	0.999975938198618	0.932
18	2923861	T	A	18	2923863	y	y	splicing	LPIN2(NM_014646:exon17:c.2088-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2088-2A>T)	.	.	0.999946188727699	0.936
18	2923861	T	C	18	2923863	y	y	splicing	LPIN2(NM_014646:exon17:c.2088-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2088-2A>G)	.	.	0.999964896440643	0.934
18	2923861	T	G	18	2923863	y	y	splicing	LPIN2(NM_014646:exon17:c.2088-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon17:c.2088-2A>C)	.	.	0.999964896440643	0.934
18	2923862	A	C	18	2923864	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.980702524620812	0.668
18	2923862	A	G	18	2923864	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.24707050119578E-5	0.018
18	2923862	A	T	18	2923864	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.75116857042239E-4	0.102
18	2923863	A	C	18	2923865	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.23485351787021E-4	0.02
18	2923863	A	G	18	2923865	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.32904799659282E-5	0.0
18	2923863	A	T	18	2923865	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.68755422262799E-5	0.0
18	2923864	G	A	18	2923866	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.08522026869824E-5	0.002
18	2923864	G	C	18	2923866	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.0260658619733E-4	0.01
18	2923864	G	T	18	2923866	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.0260658619733E-4	0.012
18	2923865	A	C	18	2923867	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00384567770863415	0.312
18	2923865	A	G	18	2923867	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.79967958919141E-5	0.008
18	2923865	A	T	18	2923867	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00371029192088448	0.294
18	2923866	A	C	18	2923868	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.2737996868643E-4	0.032
18	2923866	A	G	18	2923868	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.17200297530825E-6	0.018
18	2923866	A	T	18	2923868	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.68445379054928E-4	0.06
18	2923867	G	A	18	2923869	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.97198484127417E-5	0.002
18	2923867	G	C	18	2923869	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.35544915618071E-4	0.018
18	2923867	G	T	18	2923869	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.47227331651479E-4	0.076
18	2923868	A	C	18	2923870	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00317531216972932	0.074
18	2923868	A	G	18	2923870	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.41521587521198E-4	0.0
18	2923868	A	T	18	2923870	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00214835934691065	0.052
18	2923869	C	A	18	2923871	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.38939324133129E-5	0.002
18	2923869	C	G	18	2923871	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.19364650173811E-5	0.024
18	2923869	C	T	18	2923871	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.16161814575686E-5	0.0
18	2923870	G	A	18	2923872	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.97018975761258E-5	0.002
18	2923870	G	C	18	2923872	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.3822397070141E-4	0.074
18	2923870	G	T	18	2923872	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.977243641824931	0.946
18	2923871	G	A	18	2923873	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.26190847378015E-4	0.03
18	2923871	G	C	18	2923873	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999618177183375	0.904
18	2923871	G	T	18	2923873	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00203539629362367	0.13
18	2924388	G	A	18	2924390	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.62664281804568E-4	0.002
18	2924388	G	C	18	2924390	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.0297496643326E-4	0.0
18	2924388	G	T	18	2924390	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.59028848257884E-5	0.0
18	2924389	A	C	18	2924391	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.74915307224355E-5	0.0
18	2924389	A	G	18	2924391	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.74915307224355E-5	0.0
18	2924389	A	T	18	2924391	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.74915307224355E-5	0.0
18	2924390	G	A	18	2924392	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.42361283989908E-4	0.018
18	2924390	G	C	18	2924392	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.98728500666516E-5	0.022
18	2924390	G	T	18	2924392	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.4437306239741E-4	0.04
18	2924391	C	A	18	2924393	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999976008337081	0.966
18	2924391	C	G	18	2924393	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999874596907451	0.984
18	2924391	C	T	18	2924393	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999962507201215	0.974
18	2924392	T	A	18	2924394	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.997339676876279	0.952
18	2924392	T	C	18	2924394	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.996768991278665	0.976
18	2924392	T	G	18	2924394	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.996600065816304	0.88
18	2924393	T	A	18	2924395	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999761123244672	0.952
18	2924393	T	C	18	2924395	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.122425008584459	0.328
18	2924393	T	G	18	2924395	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999816907701232	0.922
18	2924394	A	C	18	2924396	y	y	splicing	LPIN2(NM_014646:exon16:c.2087+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.2087+2T>G)	.	.	0.999988247793601	0.93
18	2924394	A	G	18	2924396	y	y	splicing	LPIN2(NM_014646:exon16:c.2087+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.2087+2T>C)	.	.	0.995320650369382	0.686
18	2924394	A	T	18	2924396	y	y	splicing	LPIN2(NM_014646:exon16:c.2087+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.2087+2T>A)	.	.	0.999988247793601	0.93
18	2924395	C	A	18	2924397	y	y	splicing	LPIN2(NM_014646:exon16:c.2087+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.2087+1G>T)	.	.	0.999990361384395	0.938
18	2924395	C	G	18	2924397	y	y	splicing	LPIN2(NM_014646:exon16:c.2087+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.2087+1G>C)	.	.	0.999990361384395	0.938
18	2924395	C	T	18	2924397	y	y	splicing	LPIN2(NM_014646:exon16:c.2087+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.2087+1G>A)	.	.	0.999990361384395	0.938
18	2924396	T	A	18	2924398	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.A2087T:p.K696M;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.A2087T:p.K696M;	0.884459589309197	0.71
18	2924396	T	C	18	2924398	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.A2087G:p.K696R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.A2087G:p.K696R;	0.546915857212644	0.298
18	2924396	T	G	18	2924398	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.A2087C:p.K696T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.A2087C:p.K696T;	0.84800393346853	0.772
18	2924397	T	A	18	2924399	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon15:c.A2086T:p.K696X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon15:c.A2086T:p.K696X;	0.997763386950858	0.878
18	2924397	T	C	18	2924399	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.A2086G:p.K696E;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.A2086G:p.K696E;	0.996548432025124	0.84
18	2924397	T	G	18	2924399	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.A2086C:p.K696Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.A2086C:p.K696Q;	0.997488470375783	0.876
18	2924398	G	A	18	2924400	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon15:c.C2085T:p.T695T;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.C2085T:p.T695T;	0.978866465057717	0.804
18	2924398	G	C	18	2924400	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon15:c.C2085G:p.T695T;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.C2085G:p.T695T;	0.00499760827066091	0.18
18	2924398	G	T	18	2924400	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon15:c.C2085A:p.T695T;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.C2085A:p.T695T;	0.0143577983259171	0.156
18	2924543	G	A	18	2924545	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.C1940T:p.A647V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.C1940T:p.A647V;	0.980460766185683	0.752
18	2924543	G	C	18	2924545	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.C1940G:p.A647G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.C1940G:p.A647G;	0.984676523949942	0.85
18	2924543	G	T	18	2924545	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.C1940A:p.A647E;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.C1940A:p.A647E;	0.0871393879852378	0.19
18	2924544	C	A	18	2924546	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.G1939T:p.A647S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.G1939T:p.A647S;	0.999953251471789	0.998
18	2924544	C	G	18	2924546	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.G1939C:p.A647P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.G1939C:p.A647P;	0.999890210480195	0.986
18	2924544	C	T	18	2924546	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon15:c.G1939A:p.A647T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon15:c.G1939A:p.A647T;	0.999693704106062	0.904
18	2924545	C	A	18	2924547	y	y	splicing	LPIN2(NM_014646:exon16:c.1939-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.1939-1G>T)	.	.	0.999989125585301	0.944
18	2924545	C	G	18	2924547	y	y	splicing	LPIN2(NM_014646:exon16:c.1939-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.1939-1G>C)	.	.	0.999989125585301	0.944
18	2924545	C	T	18	2924547	y	y	splicing	LPIN2(NM_014646:exon16:c.1939-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.1939-1G>A)	.	.	0.999989125585301	0.944
18	2924546	T	A	18	2924548	y	y	splicing	LPIN2(NM_014646:exon16:c.1939-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.1939-2A>T)	.	.	0.999986741007567	0.946
18	2924546	T	C	18	2924548	y	y	splicing	LPIN2(NM_014646:exon16:c.1939-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.1939-2A>G)	.	.	0.999986741007567	0.946
18	2924546	T	G	18	2924548	y	y	splicing	LPIN2(NM_014646:exon16:c.1939-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon16:c.1939-2A>C)	.	.	0.999986741007567	0.946
18	2924547	T	A	18	2924549	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.58566290949658E-4	0.01
18	2924547	T	C	18	2924549	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.736828878874516	0.406
18	2924547	T	G	18	2924549	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.79479293045656E-4	0.064
18	2924548	T	A	18	2924550	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00175672946852294	0.144
18	2924548	T	C	18	2924550	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.99929873237937	0.92
18	2924548	T	G	18	2924550	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00222295294740254	0.118
18	2924549	T	A	18	2924551	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.34566529947332E-5	0.02
18	2924549	T	C	18	2924551	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.01517831449227E-4	0.02
18	2924549	T	G	18	2924551	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.09671547817916E-5	0.014
18	2924550	A	C	18	2924552	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00347146248861982	0.21
18	2924550	A	G	18	2924552	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.42800306484567E-5	0.06
18	2924550	A	T	18	2924552	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00146412050199521	0.096
18	2924551	A	C	18	2924553	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0390309926497627	0.226
18	2924551	A	G	18	2924553	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.30026597567802E-4	0.026
18	2924551	A	T	18	2924553	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.10874601795297	0.392
18	2924552	A	C	18	2924554	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00340446580154773	0.248
18	2924552	A	G	18	2924554	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.65169529835202E-5	0.0
18	2924552	A	T	18	2924554	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00575442168352395	0.206
18	2924553	A	C	18	2924555	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0106760542221814	0.312
18	2924553	A	G	18	2924555	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.41295120833904E-4	0.032
18	2924553	A	T	18	2924555	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00520724012764333	0.288
18	2924554	A	C	18	2924556	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00840075853894327	0.328
18	2924554	A	G	18	2924556	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.07351811834825E-4	0.048
18	2924554	A	T	18	2924556	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0112997488840124	0.314
18	2924555	A	C	18	2924557	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.284491183010414	0.442
18	2924555	A	G	18	2924557	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0067077424761964	0.132
18	2924555	A	T	18	2924557	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0859527393550583	0.444
18	2924556	G	A	18	2924558	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.74706664601595E-5	0.0
18	2924556	G	C	18	2924558	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00171518685039803	0.088
18	2924556	G	T	18	2924558	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00112069519706842	0.048
18	2925214	A	C	18	2925216	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.96799530494538E-6	0.0
18	2925214	A	G	18	2925216	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.6815803950322E-6	0.0
18	2925214	A	T	18	2925216	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.2841851808273E-5	0.004
18	2925215	G	A	18	2925217	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.98704097736954E-5	0.08
18	2925215	G	C	18	2925217	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.11208240419735E-5	0.006
18	2925215	G	T	18	2925217	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.28482898384571E-5	0.002
18	2925216	A	C	18	2925218	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.951552657808475	0.722
18	2925216	A	G	18	2925218	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.969784959517198	0.798
18	2925216	A	T	18	2925218	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.974239070514712	0.684
18	2925217	C	A	18	2925219	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999976955359935	0.99
18	2925217	C	G	18	2925219	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999993026233254	0.982
18	2925217	C	T	18	2925219	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999975613100953	0.996
18	2925218	T	A	18	2925220	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999716458260196	0.826
18	2925218	T	C	18	2925220	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998032650716914	0.848
18	2925218	T	G	18	2925220	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.943799457785914	0.664
18	2925219	C	A	18	2925221	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999665727145036	0.77
18	2925219	C	G	18	2925221	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.992768773922859	0.78
18	2925219	C	T	18	2925221	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.52970869784492E-4	0.002
18	2925220	A	C	18	2925222	y	y	splicing	LPIN2(NM_014646:exon15:c.1938+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1938+2T>G)	.	.	0.999893588078984	0.882
18	2925220	A	G	18	2925222	y	y	splicing	LPIN2(NM_014646:exon15:c.1938+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1938+2T>C)	.	.	0.999609296564075	0.896
18	2925220	A	T	18	2925222	y	y	splicing	LPIN2(NM_014646:exon15:c.1938+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1938+2T>A)	.	.	0.999906100734258	0.892
18	2925221	C	A	18	2925223	y	y	splicing	LPIN2(NM_014646:exon15:c.1938+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1938+1G>T)	.	.	0.999938251700354	0.902
18	2925221	C	G	18	2925223	y	y	splicing	LPIN2(NM_014646:exon15:c.1938+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1938+1G>C)	.	.	0.999906145923106	0.884
18	2925221	C	T	18	2925223	y	y	splicing	LPIN2(NM_014646:exon15:c.1938+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1938+1G>A)	.	.	0.999938251700354	0.904
18	2925222	G	A	18	2925224	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon14:c.C1938T:p.I646I;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.C1938T:p.I646I;	0.00142577324138408	0.306
18	2925222	G	C	18	2925224	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.C1938G:p.I646M;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.C1938G:p.I646M;	1.95363623751833E-5	0.134
18	2925222	G	T	18	2925224	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon14:c.C1938A:p.I646I;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.C1938A:p.I646I;	0.001061455272492	0.456
18	2925223	A	C	18	2925225	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.T1937G:p.I646S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.T1937G:p.I646S;	0.699731644830205	0.598
18	2925223	A	G	18	2925225	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.T1937C:p.I646T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.T1937C:p.I646T;	0.927016614189504	0.782
18	2925223	A	T	18	2925225	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.T1937A:p.I646N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.T1937A:p.I646N;	0.573013138106022	0.476
18	2925224	T	A	18	2925226	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.A1936T:p.I646F;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.A1936T:p.I646F;	0.969228489091723	0.68
18	2925224	T	C	18	2925226	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.A1936G:p.I646V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.A1936G:p.I646V;	0.119787750229134	0.454
18	2925224	T	G	18	2925226	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.A1936C:p.I646L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.A1936C:p.I646L;	0.00131521313425931	0.02
18	2925365	G	A	18	2925367	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.C1795T:p.P599S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.C1795T:p.P599S;	5.28154335132912E-5	0.002
18	2925365	G	C	18	2925367	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.C1795G:p.P599A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.C1795G:p.P599A;	5.30298008908116E-5	0.006
18	2925365	G	T	18	2925367	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.C1795A:p.P599T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.C1795A:p.P599T;	5.09563420325465E-5	0.04
18	2925366	C	A	18	2925368	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.G1794T:p.R598S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.G1794T:p.R598S;	0.465426223551985	0.688
18	2925366	C	G	18	2925368	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon14:c.G1794C:p.R598S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.G1794C:p.R598S;	0.175829841495521	0.628
18	2925366	C	T	18	2925368	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon14:c.G1794A:p.R598R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon14:c.G1794A:p.R598R;	0.00205377148582326	0.296
18	2925367	C	A	18	2925369	y	y	splicing	LPIN2(NM_014646:exon15:c.1794-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1794-1G>T)	.	.	0.999959787283855	0.87
18	2925367	C	G	18	2925369	y	y	splicing	LPIN2(NM_014646:exon15:c.1794-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1794-1G>C)	.	.	0.999959787283855	0.87
18	2925367	C	T	18	2925369	y	y	splicing	LPIN2(NM_014646:exon15:c.1794-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1794-1G>A)	.	.	0.999959787283855	0.856
18	2925368	T	A	18	2925370	y	y	splicing	LPIN2(NM_014646:exon15:c.1794-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1794-2A>T)	.	.	0.999944411775892	0.88
18	2925368	T	C	18	2925370	y	y	splicing	LPIN2(NM_014646:exon15:c.1794-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1794-2A>G)	.	.	0.999891083642352	0.872
18	2925368	T	G	18	2925370	y	y	splicing	LPIN2(NM_014646:exon15:c.1794-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon15:c.1794-2A>C)	.	.	0.999891083642352	0.872
18	2925369	G	A	18	2925371	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.7955653542415E-4	0.082
18	2925369	G	C	18	2925371	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.828307417801742	0.664
18	2925369	G	T	18	2925371	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.538441133503933	0.578
18	2925370	T	A	18	2925372	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00132552430809221	0.032
18	2925370	T	C	18	2925372	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.918494184131996	0.922
18	2925370	T	G	18	2925372	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.54815165747088E-5	0.026
18	2925371	T	A	18	2925373	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.85112717747324E-5	0.044
18	2925371	T	C	18	2925373	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.55399478942132E-5	0.038
18	2925371	T	G	18	2925373	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.85112717747324E-5	0.022
18	2925372	C	A	18	2925374	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.94676664783226E-5	0.002
18	2925372	C	G	18	2925374	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.94676664783226E-5	0.0
18	2925372	C	T	18	2925374	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.59956071623207E-5	0.01
18	2925373	A	C	18	2925375	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0122168324999602	0.218
18	2925373	A	G	18	2925375	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.36535702467885E-5	0.004
18	2925373	A	T	18	2925375	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.994721293813481	0.964
18	2925374	A	C	18	2925376	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.725036283429411	0.644
18	2925374	A	G	18	2925376	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00222275945470124	0.096
18	2925374	A	T	18	2925376	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.725036283429411	0.648
18	2925375	C	A	18	2925377	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.47127788738244E-5	0.086
18	2925375	C	G	18	2925377	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.2618360497582E-4	0.038
18	2925375	C	T	18	2925377	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.33313239664938E-4	0.048
18	2925376	A	C	18	2925378	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999814297809745	0.964
18	2925376	A	G	18	2925378	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.38213179489547E-4	0.042
18	2925376	A	T	18	2925378	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999771517139556	0.94
18	2925377	T	A	18	2925379	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.44325180948963E-5	0.146
18	2925377	T	C	18	2925379	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.987792324859427	0.818
18	2925377	T	G	18	2925379	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.11094255192124E-5	0.018
18	2925378	T	A	18	2925380	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.50239697503314E-5	0.01
18	2925378	T	C	18	2925380	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.43692030925514E-5	0.026
18	2925378	T	G	18	2925380	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.81912948595509E-5	0.0
18	2926713	G	A	18	2926715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.34574626626523E-4	0.008
18	2926713	G	C	18	2926715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.38507298796611E-4	0.022
18	2926713	G	T	18	2926715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.59639800861769E-5	0.012
18	2926714	C	A	18	2926716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.03771570187182E-5	0.0
18	2926714	C	G	18	2926716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.04900693216345E-6	0.0
18	2926714	C	T	18	2926716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.04900693216345E-6	0.0
18	2926715	A	C	18	2926717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.94807804286757E-4	0.068
18	2926715	A	G	18	2926717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.7591631160063E-4	0.094
18	2926715	A	T	18	2926717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0011790989172213	0.062
18	2926716	C	A	18	2926718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999873066446357	0.866
18	2926716	C	G	18	2926718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999990712336886	0.948
18	2926716	C	T	18	2926718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999699415978173	0.916
18	2926717	C	A	18	2926719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.34805409081802E-4	0.08
18	2926717	C	G	18	2926719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.40070517752359E-4	0.03
18	2926717	C	T	18	2926719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.26051891102853E-4	0.136
18	2926718	C	A	18	2926720	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.110251226622569	0.422
18	2926718	C	G	18	2926720	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.233473510408873	0.498
18	2926718	C	T	18	2926720	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.70529157724051E-4	0.064
18	2926719	A	C	18	2926721	y	y	splicing	LPIN2(NM_014646:exon14:c.1793+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1793+2T>G)	.	.	0.99994568797423	0.948
18	2926719	A	G	18	2926721	y	y	splicing	LPIN2(NM_014646:exon14:c.1793+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1793+2T>C)	.	.	0.999688424215117	0.922
18	2926719	A	T	18	2926721	y	y	splicing	LPIN2(NM_014646:exon14:c.1793+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1793+2T>A)	.	.	0.99994568797423	0.944
18	2926720	C	A	18	2926722	y	y	splicing	LPIN2(NM_014646:exon14:c.1793+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1793+1G>T)	.	.	0.99995545544995	0.944
18	2926720	C	G	18	2926722	y	y	splicing	LPIN2(NM_014646:exon14:c.1793+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1793+1G>C)	.	.	0.99995545544995	0.944
18	2926720	C	T	18	2926722	y	y	splicing	LPIN2(NM_014646:exon14:c.1793+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1793+1G>A)	.	.	0.99995545544995	0.936
18	2926721	C	A	18	2926723	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.G1793T:p.R598M;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.G1793T:p.R598M;	0.999966412547191	1.0
18	2926721	C	G	18	2926723	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.G1793C:p.R598T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.G1793C:p.R598T;	0.999994128763232	0.996
18	2926721	C	T	18	2926723	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.G1793A:p.R598K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.G1793A:p.R598K;	0.999982101840559	0.994
18	2926722	T	A	18	2926724	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.A1792T:p.R598W;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.A1792T:p.R598W;	0.999903169217305	0.998
18	2926722	T	C	18	2926724	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.A1792G:p.R598G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.A1792G:p.R598G;	0.996041412969545	0.924
18	2926722	T	G	18	2926724	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon13:c.A1792C:p.R598R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.A1792C:p.R598R;	0.668185058211012	0.586
18	2926723	G	A	18	2926725	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon13:c.C1791T:p.A597A;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.C1791T:p.A597A;	0.731547278488391	0.564
18	2926723	G	C	18	2926725	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon13:c.C1791G:p.A597A;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.C1791G:p.A597A;	0.0140921809706424	0.234
18	2926723	G	T	18	2926725	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon13:c.C1791A:p.A597A;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.C1791A:p.A597A;	0.00284490968788092	0.16
18	2926802	A	C	18	2926804	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.T1712G:p.L571R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.T1712G:p.L571R;	0.0116439593199941	0.122
18	2926802	A	G	18	2926804	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.T1712C:p.L571P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.T1712C:p.L571P;	0.0399860169393835	0.176
18	2926802	A	T	18	2926804	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.T1712A:p.L571Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.T1712A:p.L571Q;	0.00878760392055242	0.164
18	2926803	G	A	18	2926805	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon13:c.C1711T:p.L571L;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.C1711T:p.L571L;	0.00392562532184463	0.176
18	2926803	G	C	18	2926805	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.C1711G:p.L571V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.C1711G:p.L571V;	6.92265405545847E-4	0.34
18	2926803	G	T	18	2926805	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon13:c.C1711A:p.L571M;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon13:c.C1711A:p.L571M;	2.42471173040983E-4	0.002
18	2926804	C	A	18	2926806	y	y	splicing	LPIN2(NM_014646:exon14:c.1711-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1711-1G>T)	.	.	0.999949496871441	0.938
18	2926804	C	G	18	2926806	y	y	splicing	LPIN2(NM_014646:exon14:c.1711-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1711-1G>C)	.	.	0.999949496871441	0.94
18	2926804	C	T	18	2926806	y	y	splicing	LPIN2(NM_014646:exon14:c.1711-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1711-1G>A)	.	.	0.999949496871441	0.94
18	2926805	T	A	18	2926807	y	y	splicing	LPIN2(NM_014646:exon14:c.1711-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1711-2A>T)	.	.	0.999946188727699	0.956
18	2926805	T	C	18	2926807	y	y	splicing	LPIN2(NM_014646:exon14:c.1711-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1711-2A>G)	.	.	0.999964896440643	0.956
18	2926805	T	G	18	2926807	y	y	splicing	LPIN2(NM_014646:exon14:c.1711-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon14:c.1711-2A>C)	.	.	0.999964896440643	0.956
18	2926806	G	A	18	2926808	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.77693505136338E-4	0.012
18	2926806	G	C	18	2926808	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.995296027768649	0.674
18	2926806	G	T	18	2926808	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.585827811055753	0.43
18	2926807	T	A	18	2926809	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.23951842805533E-5	0.002
18	2926807	T	C	18	2926809	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00113548637566982	0.018
18	2926807	T	G	18	2926809	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.51062775579837E-4	0.03
18	2926808	A	C	18	2926810	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.452686780972966	0.372
18	2926808	A	G	18	2926810	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00930434762713603	0.126
18	2926808	A	T	18	2926810	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.305662800047946	0.41
18	2926809	A	C	18	2926811	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.713558844577965	0.458
18	2926809	A	G	18	2926811	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00435915400070497	0.176
18	2926809	A	T	18	2926811	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.723501460102867	0.432
18	2926810	C	A	18	2926812	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.57224415015791E-5	0.002
18	2926810	C	G	18	2926812	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.119947441439E-5	0.01
18	2926810	C	T	18	2926812	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.06554301129219E-5	0.008
18	2926811	A	C	18	2926813	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00361003355891726	0.122
18	2926811	A	G	18	2926813	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.88044460823506E-4	0.04
18	2926811	A	T	18	2926813	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999949307854148	0.984
18	2926812	G	A	18	2926814	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.00125137694863E-4	0.006
18	2926812	G	C	18	2926814	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00375971091348397	0.062
18	2926812	G	T	18	2926814	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.17120129338571E-4	0.05
18	2926813	C	A	18	2926815	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.6145473046765E-5	0.002
18	2926813	C	G	18	2926815	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.50350659810214E-5	0.0
18	2926813	C	T	18	2926815	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.5655910749804E-5	0.012
18	2926814	A	C	18	2926816	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.047535458065242	0.27
18	2926814	A	G	18	2926816	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.97822976627304E-4	0.008
18	2926814	A	T	18	2926816	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.997734709871812	0.918
18	2926815	A	C	18	2926817	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0119972103834143	0.28
18	2926815	A	G	18	2926817	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.467794334998E-4	0.044
18	2926815	A	T	18	2926817	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0337143922889617	0.3
18	2927712	T	A	18	2927714	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.11458344309416E-5	0.0
18	2927712	T	C	18	2927714	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.83208060894993E-5	0.002
18	2927712	T	G	18	2927714	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.66564711732589E-5	0.008
18	2927713	C	A	18	2927715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.14036668387534E-4	0.002
18	2927713	C	G	18	2927715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.60234791078851E-5	0.002
18	2927713	C	T	18	2927715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.04236894594376E-5	0.002
18	2927714	T	A	18	2927716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.00164682472189E-5	0.014
18	2927714	T	C	18	2927716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.90824054901691E-5	0.0
18	2927714	T	G	18	2927716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.5533960381499E-5	0.032
18	2927715	G	A	18	2927717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.88624937476877E-4	0.0
18	2927715	G	C	18	2927717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.30614890030334E-5	0.006
18	2927715	G	T	18	2927717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.69832638179361E-5	0.004
18	2927716	T	A	18	2927718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.511696973968655	0.5
18	2927716	T	C	18	2927718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.768457244238329	0.55
18	2927716	T	G	18	2927718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.109287885756478	0.362
18	2927717	T	A	18	2927719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999853263267709	0.878
18	2927717	T	C	18	2927719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.990458906803026	0.7
18	2927717	T	G	18	2927719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.99952570633279	0.898
18	2927718	A	C	18	2927720	y	y	splicing	LPIN2(NM_014646:exon13:c.1710+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1710+2T>G)	.	.	0.99994568797423	0.944
18	2927718	A	G	18	2927720	y	y	splicing	LPIN2(NM_014646:exon13:c.1710+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1710+2T>C)	.	.	0.973509269386723	0.738
18	2927718	A	T	18	2927720	y	y	splicing	LPIN2(NM_014646:exon13:c.1710+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1710+2T>A)	.	.	0.99994568797423	0.94
18	2927719	C	A	18	2927721	y	y	splicing	LPIN2(NM_014646:exon13:c.1710+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1710+1G>T)	.	.	0.99995545544995	0.936
18	2927719	C	G	18	2927721	y	y	splicing	LPIN2(NM_014646:exon13:c.1710+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1710+1G>C)	.	.	0.99995545544995	0.944
18	2927719	C	T	18	2927721	y	y	splicing	LPIN2(NM_014646:exon13:c.1710+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1710+1G>A)	.	.	0.99995545544995	0.934
18	2927720	C	A	18	2927722	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.G1710T:p.Q570H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.G1710T:p.Q570H;	0.999992598779722	0.978
18	2927720	C	G	18	2927722	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.G1710C:p.Q570H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.G1710C:p.Q570H;	0.999997758162875	1.0
18	2927720	C	T	18	2927722	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon12:c.G1710A:p.Q570Q;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.G1710A:p.Q570Q;	0.999943747560131	0.986
18	2927721	T	A	18	2927723	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.A1709T:p.Q570L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.A1709T:p.Q570L;	0.999777210821302	0.992
18	2927721	T	C	18	2927723	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.A1709G:p.Q570R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.A1709G:p.Q570R;	0.999682730279315	0.988
18	2927721	T	G	18	2927723	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.A1709C:p.Q570P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.A1709C:p.Q570P;	0.995681955599856	0.914
18	2927722	G	A	18	2927724	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon12:c.C1708T:p.Q570X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon12:c.C1708T:p.Q570X;	0.999885106885517	0.986
18	2927722	G	C	18	2927724	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.C1708G:p.Q570E;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.C1708G:p.Q570E;	0.00532248198295386	0.168
18	2927722	G	T	18	2927724	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.C1708A:p.Q570K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.C1708A:p.Q570K;	0.0836026506160811	0.176
18	2927808	G	A	18	2927810	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.C1622T:p.A541V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.C1622T:p.A541V;	0.66065137915725	0.7
18	2927808	G	C	18	2927810	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.C1622G:p.A541G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.C1622G:p.A541G;	0.111412270398295	0.382
18	2927808	G	T	18	2927810	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.C1622A:p.A541D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.C1622A:p.A541D;	0.385466964002562	0.394
18	2927809	C	A	18	2927811	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.G1621T:p.A541S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.G1621T:p.A541S;	0.383167662384016	0.496
18	2927809	C	G	18	2927811	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.G1621C:p.A541P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.G1621C:p.A541P;	0.997695497070287	0.974
18	2927809	C	T	18	2927811	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon12:c.G1621A:p.A541T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon12:c.G1621A:p.A541T;	0.91667569287929	0.652
18	2927810	C	A	18	2927812	y	y	splicing	LPIN2(NM_014646:exon13:c.1621-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1621-1G>T)	.	.	0.999990361384395	0.93
18	2927810	C	G	18	2927812	y	y	splicing	LPIN2(NM_014646:exon13:c.1621-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1621-1G>C)	.	.	0.999990361384395	0.938
18	2927810	C	T	18	2927812	y	y	splicing	LPIN2(NM_014646:exon13:c.1621-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1621-1G>A)	.	.	0.999990361384395	0.936
18	2927811	T	A	18	2927813	y	y	splicing	LPIN2(NM_014646:exon13:c.1621-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1621-2A>T)	.	.	0.999969255906173	0.838
18	2927811	T	C	18	2927813	y	y	splicing	LPIN2(NM_014646:exon13:c.1621-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1621-2A>G)	.	.	0.999962958601995	0.846
18	2927811	T	G	18	2927813	y	y	splicing	LPIN2(NM_014646:exon13:c.1621-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon13:c.1621-2A>C)	.	.	0.999962958601995	0.846
18	2927812	G	A	18	2927814	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.66198237664866E-4	0.126
18	2927812	G	C	18	2927814	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999355142108147	0.9
18	2927812	G	T	18	2927814	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.384848114951716	0.594
18	2927813	A	C	18	2927815	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.29784608713239E-4	0.056
18	2927813	A	G	18	2927815	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.47940787265268E-5	0.002
18	2927813	A	T	18	2927815	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.01698482676046E-5	0.012
18	2927814	A	C	18	2927816	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.959514902823561	0.528
18	2927814	A	G	18	2927816	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0236311710977591	0.1
18	2927814	A	T	18	2927816	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.945596822167167	0.514
18	2927815	A	C	18	2927817	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.407922598496006	0.492
18	2927815	A	G	18	2927817	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.18543333417726E-4	0.008
18	2927815	A	T	18	2927817	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.570741015349477	0.482
18	2927816	A	C	18	2927818	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0643001187093995	0.342
18	2927816	A	G	18	2927818	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.82460375104218E-5	0.028
18	2927816	A	T	18	2927818	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.60091591137219	0.488
18	2927817	C	A	18	2927819	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.52323158291543E-5	0.0
18	2927817	C	G	18	2927819	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.35082844333272E-5	0.0
18	2927817	C	T	18	2927819	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00149745093352591	0.03
18	2927818	A	C	18	2927820	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0894217495790313	0.398
18	2927818	A	G	18	2927820	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.47130043326427E-4	0.032
18	2927818	A	T	18	2927820	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999924697949549	0.984
18	2927819	A	C	18	2927821	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.057528406409688	0.238
18	2927819	A	G	18	2927821	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.93040844560543E-4	0.004
18	2927819	A	T	18	2927821	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.592333092718927	0.368
18	2927820	C	A	18	2927822	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.31378247454735E-5	0.004
18	2927820	C	G	18	2927822	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.52846510628033E-5	0.0
18	2927820	C	T	18	2927822	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.39742789360483E-4	0.004
18	2927821	C	A	18	2927823	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.0291873933743E-5	0.002
18	2927821	C	G	18	2927823	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.0291873933743E-5	0.0
18	2927821	C	T	18	2927823	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.918312025162217	0.934
18	2928581	C	A	18	2928583	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.15188132105667E-4	0.002
18	2928581	C	G	18	2928583	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.75129939195213E-5	0.002
18	2928581	C	T	18	2928583	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.15188132105667E-4	0.002
18	2928582	G	A	18	2928584	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.11219484243088E-4	0.0
18	2928582	G	C	18	2928584	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.29866858448276E-5	0.0
18	2928582	G	T	18	2928584	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.38654177270097E-5	0.0
18	2928583	C	A	18	2928585	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.31577062615655E-5	0.0
18	2928583	C	G	18	2928585	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.24495467094224E-5	0.0
18	2928583	C	T	18	2928585	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.46842317383848E-5	0.0
18	2928584	C	A	18	2928586	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999966248863237	0.88
18	2928584	C	G	18	2928586	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.992648146135006	0.674
18	2928584	C	T	18	2928586	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999090143511416	0.904
18	2928585	T	A	18	2928587	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998594984386763	0.794
18	2928585	T	C	18	2928587	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.994072770822407	0.662
18	2928585	T	G	18	2928587	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.923240153117328	0.636
18	2928586	C	A	18	2928588	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.230279172939876	0.302
18	2928586	C	G	18	2928588	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.318347313679274	0.348
18	2928586	C	T	18	2928588	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.87712510318346E-5	0.002
18	2928587	A	C	18	2928589	y	y	splicing	LPIN2(NM_014646:exon12:c.1620+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1620+2T>G)	.	.	0.999986607513753	0.916
18	2928587	A	G	18	2928589	y	y	splicing	LPIN2(NM_014646:exon12:c.1620+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1620+2T>C)	.	.	0.999949326536153	0.876
18	2928587	A	T	18	2928589	y	y	splicing	LPIN2(NM_014646:exon12:c.1620+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1620+2T>A)	.	.	0.999986607513753	0.916
18	2928588	C	A	18	2928590	y	y	splicing	LPIN2(NM_014646:exon12:c.1620+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1620+1G>T)	.	.	0.999990361384395	0.938
18	2928588	C	G	18	2928590	y	y	splicing	LPIN2(NM_014646:exon12:c.1620+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1620+1G>C)	.	.	0.999990361384395	0.938
18	2928588	C	T	18	2928590	y	y	splicing	LPIN2(NM_014646:exon12:c.1620+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1620+1G>A)	.	.	0.999990361384395	0.938
18	2928589	C	A	18	2928591	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.G1620T:p.K540N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.G1620T:p.K540N;	0.999985007705141	0.99
18	2928589	C	G	18	2928591	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.G1620C:p.K540N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.G1620C:p.K540N;	0.999997734432473	0.996
18	2928589	C	T	18	2928591	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon11:c.G1620A:p.K540K;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.G1620A:p.K540K;	0.999862404746185	0.992
18	2928590	T	A	18	2928592	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.A1619T:p.K540M;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.A1619T:p.K540M;	0.999793346755162	0.946
18	2928590	T	C	18	2928592	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.A1619G:p.K540R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.A1619G:p.K540R;	0.999878001991741	0.994
18	2928590	T	G	18	2928592	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.A1619C:p.K540T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.A1619C:p.K540T;	0.998968825214402	0.964
18	2928591	T	A	18	2928593	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon11:c.A1618T:p.K540X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon11:c.A1618T:p.K540X;	0.981773340241375	0.744
18	2928591	T	C	18	2928593	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.A1618G:p.K540E;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.A1618G:p.K540E;	0.485618235062773	0.526
18	2928591	T	G	18	2928593	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.A1618C:p.K540Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.A1618C:p.K540Q;	0.833241647417558	0.672
18	2928657	A	C	18	2928659	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.T1552G:p.Y518D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.T1552G:p.Y518D;	0.838663111352751	0.53
18	2928657	A	G	18	2928659	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.T1552C:p.Y518H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.T1552C:p.Y518H;	0.811678288467838	0.49
18	2928657	A	T	18	2928659	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon11:c.T1552A:p.Y518N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.T1552A:p.Y518N;	0.891549615114051	0.48
18	2928658	A	C	18	2928660	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon11:c.T1551G:p.R517R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.T1551G:p.R517R;	6.07342697241574E-4	0.106
18	2928658	A	G	18	2928660	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon11:c.T1551C:p.R517R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.T1551C:p.R517R;	1.44311160151754E-4	0.016
18	2928658	A	T	18	2928660	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon11:c.T1551A:p.R517R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon11:c.T1551A:p.R517R;	9.894930922846E-5	0.0
18	2928659	C	A	18	2928661	y	y	splicing	LPIN2(NM_014646:exon12:c.1551-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1551-1G>T)	.	.	0.999990361384395	0.938
18	2928659	C	G	18	2928661	y	y	splicing	LPIN2(NM_014646:exon12:c.1551-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1551-1G>C)	.	.	0.999990361384395	0.938
18	2928659	C	T	18	2928661	y	y	splicing	LPIN2(NM_014646:exon12:c.1551-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1551-1G>A)	.	.	0.999990361384395	0.938
18	2928660	T	A	18	2928662	y	y	splicing	LPIN2(NM_014646:exon12:c.1551-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1551-2A>T)	.	.	0.999988247793601	0.932
18	2928660	T	C	18	2928662	y	y	splicing	LPIN2(NM_014646:exon12:c.1551-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1551-2A>G)	.	.	0.999988247793601	0.93
18	2928660	T	G	18	2928662	y	y	splicing	LPIN2(NM_014646:exon12:c.1551-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon12:c.1551-2A>C)	.	.	0.999988247793601	0.93
18	2928661	G	A	18	2928663	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00653553982095366	0.11
18	2928661	G	C	18	2928663	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999570022503033	0.98
18	2928661	G	T	18	2928663	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.908960554489199	0.676
18	2928662	T	A	18	2928664	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.03895285547177E-5	0.0
18	2928662	T	C	18	2928664	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.56724026066518E-5	0.0
18	2928662	T	G	18	2928664	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.67344145464306E-5	0.0
18	2928663	G	A	18	2928665	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.95076949036759E-5	0.0
18	2928663	G	C	18	2928665	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.98529715141048E-4	0.076
18	2928663	G	T	18	2928665	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.33111397593641E-4	0.062
18	2928664	A	C	18	2928666	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00131100746013894	0.214
18	2928664	A	G	18	2928666	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.66424714728976E-5	0.0
18	2928664	A	T	18	2928666	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.03280094002094E-4	0.14
18	2928665	G	A	18	2928667	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.7113675578293E-5	0.0
18	2928665	G	C	18	2928667	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.8501216134074E-4	0.018
18	2928665	G	T	18	2928667	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00263582850487851	0.086
18	2928666	A	C	18	2928668	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.97249401566738E-4	0.12
18	2928666	A	G	18	2928668	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.91136227358029E-5	0.012
18	2928666	A	T	18	2928668	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.08773191536192E-4	0.102
18	2928667	A	C	18	2928669	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.99852258639729E-4	0.108
18	2928667	A	G	18	2928669	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.19739440159792E-4	0.038
18	2928667	A	T	18	2928669	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00200074209805785	0.11
18	2928668	A	C	18	2928670	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0100201357306869	0.142
18	2928668	A	G	18	2928670	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00399878382741885	0.042
18	2928668	A	T	18	2928670	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00428543768475954	0.12
18	2928669	C	A	18	2928671	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.80454135531654E-5	0.022
18	2928669	C	G	18	2928671	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.49496498880889E-5	0.018
18	2928669	C	T	18	2928671	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.18491395061922E-5	0.01
18	2928670	A	C	18	2928672	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0167539447538128	0.262
18	2928670	A	G	18	2928672	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.9350930923385E-4	0.032
18	2928670	A	T	18	2928672	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999863772660165	0.956
18	2929055	G	A	18	2929057	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.05702946943721E-5	0.0
18	2929055	G	C	18	2929057	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.46119578571274E-5	0.0
18	2929055	G	T	18	2929057	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.67121101084567E-5	0.0
18	2929056	T	A	18	2929058	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.62708107026678E-5	0.04
18	2929056	T	C	18	2929058	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.66042096125861E-5	0.0
18	2929056	T	G	18	2929058	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.81474896170976E-5	0.0
18	2929057	A	C	18	2929059	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0146599057330014	0.24
18	2929057	A	G	18	2929059	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.202261390341043	0.488
18	2929057	A	T	18	2929059	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.100765640611203	0.242
18	2929058	T	A	18	2929060	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.42419593277267E-5	0.012
18	2929058	T	C	18	2929060	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.56129136657972E-5	0.066
18	2929058	T	G	18	2929060	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.48943255964328E-5	0.016
18	2929059	T	A	18	2929061	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.859544691991951	0.666
18	2929059	T	C	18	2929061	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.95715478629971	0.724
18	2929059	T	G	18	2929061	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.727743915271857	0.622
18	2929060	T	A	18	2929062	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999855751484787	0.954
18	2929060	T	C	18	2929062	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.994907572274986	0.874
18	2929060	T	G	18	2929062	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999775692760579	0.956
18	2929061	A	C	18	2929063	y	y	splicing	LPIN2(NM_014646:exon11:c.1550+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1550+2T>G)	.	.	0.999955107838025	0.938
18	2929061	A	G	18	2929063	y	y	splicing	LPIN2(NM_014646:exon11:c.1550+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1550+2T>C)	.	.	0.997688990538529	0.79
18	2929061	A	T	18	2929063	y	y	splicing	LPIN2(NM_014646:exon11:c.1550+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1550+2T>A)	.	.	0.999955107838025	0.936
18	2929062	C	A	18	2929064	y	y	splicing	LPIN2(NM_014646:exon11:c.1550+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1550+1G>T)	.	.	0.999990361384395	0.938
18	2929062	C	G	18	2929064	y	y	splicing	LPIN2(NM_014646:exon11:c.1550+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1550+1G>C)	.	.	0.999990361384395	0.938
18	2929062	C	T	18	2929064	y	y	splicing	LPIN2(NM_014646:exon11:c.1550+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1550+1G>A)	.	.	0.999990361384395	0.938
18	2929063	C	A	18	2929065	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.G1550T:p.R517L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.G1550T:p.R517L;	0.999993018555097	1.0
18	2929063	C	G	18	2929065	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.G1550C:p.R517P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.G1550C:p.R517P;	0.999996755175525	1.0
18	2929063	C	T	18	2929065	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.G1550A:p.R517H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.G1550A:p.R517H;	0.999994222381975	1.0
18	2929064	G	A	18	2929066	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.C1549T:p.R517C;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.C1549T:p.R517C;	0.983357276415026	0.834
18	2929064	G	C	18	2929066	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.C1549G:p.R517G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.C1549G:p.R517G;	0.990662422395507	0.744
18	2929064	G	T	18	2929066	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.C1549A:p.R517S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.C1549A:p.R517S;	0.96634481089709	0.74
18	2929065	A	C	18	2929067	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.T1548G:p.N516K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.T1548G:p.N516K;	0.00571007064397399	0.09
18	2929065	A	G	18	2929067	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon10:c.T1548C:p.N516N;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.T1548C:p.N516N;	3.81267977442532E-5	0.002
18	2929065	A	T	18	2929067	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.T1548A:p.N516K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.T1548A:p.N516K;	0.00169619844415006	0.122
18	2929155	T	A	18	2929157	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.A1458T:p.E486D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.A1458T:p.E486D;	4.85648463143514E-5	0.004
18	2929155	T	C	18	2929157	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon10:c.A1458G:p.E486E;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.A1458G:p.E486E;	1.89975396674969E-4	0.026
18	2929155	T	G	18	2929157	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.A1458C:p.E486D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.A1458C:p.E486D;	4.72001591070812E-4	0.012
18	2929156	T	A	18	2929158	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.A1457T:p.E486V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.A1457T:p.E486V;	0.967258178997555	0.654
18	2929156	T	C	18	2929158	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.A1457G:p.E486G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.A1457G:p.E486G;	0.743308528622722	0.658
18	2929156	T	G	18	2929158	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon10:c.A1457C:p.E486A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon10:c.A1457C:p.E486A;	0.964832449060351	0.642
18	2929157	C	A	18	2929159	y	y	splicing	LPIN2(NM_014646:exon11:c.1457-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1457-1G>T)	.	.	0.999992425382947	0.94
18	2929157	C	G	18	2929159	y	y	splicing	LPIN2(NM_014646:exon11:c.1457-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1457-1G>C)	.	.	0.999992425382947	0.94
18	2929157	C	T	18	2929159	y	y	splicing	LPIN2(NM_014646:exon11:c.1457-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1457-1G>A)	.	.	0.999992425382947	0.94
18	2929158	T	A	18	2929160	y	y	splicing	LPIN2(NM_014646:exon11:c.1457-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1457-2A>T)	.	.	0.999990764389106	0.94
18	2929158	T	C	18	2929160	y	y	splicing	LPIN2(NM_014646:exon11:c.1457-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1457-2A>G)	.	.	0.999990764389106	0.94
18	2929158	T	G	18	2929160	y	y	splicing	LPIN2(NM_014646:exon11:c.1457-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon11:c.1457-2A>C)	.	.	0.999990764389106	0.94
18	2929159	G	A	18	2929161	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0372117890051584	0.18
18	2929159	G	C	18	2929161	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999695159850996	0.696
18	2929159	G	T	18	2929161	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998787697088314	0.826
18	2929160	C	A	18	2929162	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.62921838737938E-4	0.02
18	2929160	C	G	18	2929162	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.52033476675632E-5	0.066
18	2929160	C	T	18	2929162	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.5096710251689E-4	0.044
18	2929161	A	C	18	2929163	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.98180255272064	0.5
18	2929161	A	G	18	2929163	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0433562844090167	0.258
18	2929161	A	T	18	2929163	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999945851376856	0.928
18	2929162	A	C	18	2929164	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.99994529397231	0.96
18	2929162	A	G	18	2929164	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.1959114392494E-4	0.062
18	2929162	A	T	18	2929164	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.582023357590053	0.53
18	2929163	T	A	18	2929165	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.6145473046765E-5	0.0
18	2929163	T	C	18	2929165	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.2254061239491E-5	0.022
18	2929163	T	G	18	2929165	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.6145473046765E-5	0.01
18	2929164	G	A	18	2929166	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.84889699450808E-5	0.0
18	2929164	G	C	18	2929166	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999781955582361	0.99
18	2929164	G	T	18	2929166	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.66234689420345E-4	0.13
18	2929165	T	A	18	2929167	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.20580461860393E-5	0.036
18	2929165	T	C	18	2929167	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.26362057741401E-5	0.0
18	2929165	T	G	18	2929167	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.20531303821265E-5	0.002
18	2929166	A	C	18	2929168	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.206242855539349	0.398
18	2929166	A	G	18	2929168	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.20258056959822E-4	0.124
18	2929166	A	T	18	2929168	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0167840482724902	0.322
18	2929167	A	C	18	2929169	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.940283542619029	0.85
18	2929167	A	G	18	2929169	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.720472540178701	0.634
18	2929167	A	T	18	2929169	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.996639721712414	0.96
18	2929168	A	C	18	2929170	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.204548936795051	0.386
18	2929168	A	G	18	2929170	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00105765971422722	0.098
18	2929168	A	T	18	2929170	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0374140251030823	0.408
18	2931246	C	A	18	2931248	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.27237026149931E-5	0.0
18	2931246	C	G	18	2931248	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.02203293062935E-5	0.0
18	2931246	C	T	18	2931248	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.27237026149931E-5	0.0
18	2931247	A	C	18	2931249	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.79150171670344E-6	0.002
18	2931247	A	G	18	2931249	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.79150171670344E-6	0.002
18	2931247	A	T	18	2931249	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.79150171670344E-6	0.022
18	2931248	A	C	18	2931250	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.35760809291328E-4	0.058
18	2931248	A	G	18	2931250	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00238441532263316	0.124
18	2931248	A	T	18	2931250	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00144191767972564	0.086
18	2931249	C	A	18	2931251	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.142481361190264	0.314
18	2931249	C	G	18	2931251	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.294492276258153	0.346
18	2931249	C	T	18	2931251	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.610934166956463	0.302
18	2931250	G	A	18	2931252	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.06329193413907E-5	0.064
18	2931250	G	C	18	2931252	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.97474320902345E-5	0.016
18	2931250	G	T	18	2931252	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.89864553368719E-5	0.018
18	2931251	T	A	18	2931253	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.293602325410586	0.482
18	2931251	T	C	18	2931253	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00187693876877733	0.042
18	2931251	T	G	18	2931253	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.91048481161645	0.584
18	2931252	A	C	18	2931254	y	y	splicing	LPIN2(NM_014646:exon10:c.1456+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1456+2T>G)	.	.	0.999978952611685	0.928
18	2931252	A	G	18	2931254	y	y	splicing	LPIN2(NM_014646:exon10:c.1456+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1456+2T>C)	.	.	0.995129453569863	0.668
18	2931252	A	T	18	2931254	y	y	splicing	LPIN2(NM_014646:exon10:c.1456+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1456+2T>A)	.	.	0.999978952611685	0.93
18	2931253	C	A	18	2931255	y	y	splicing	LPIN2(NM_014646:exon10:c.1456+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1456+1G>T)	.	.	0.999990361384395	0.936
18	2931253	C	G	18	2931255	y	y	splicing	LPIN2(NM_014646:exon10:c.1456+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1456+1G>C)	.	.	0.999990361384395	0.936
18	2931253	C	T	18	2931255	y	y	splicing	LPIN2(NM_014646:exon10:c.1456+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1456+1G>A)	.	.	0.999990361384395	0.936
18	2931254	C	A	18	2931256	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon9:c.G1456T:p.E486X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon9:c.G1456T:p.E486X;	0.999983412516318	0.958
18	2931254	C	G	18	2931256	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.G1456C:p.E486Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.G1456C:p.E486Q;	0.999929692922436	0.98
18	2931254	C	T	18	2931256	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.G1456A:p.E486K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.G1456A:p.E486K;	0.999738393278165	0.962
18	2931255	T	A	18	2931257	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.A1455T:p.K485N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.A1455T:p.K485N;	0.997237024865122	0.918
18	2931255	T	C	18	2931257	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon9:c.A1455G:p.K485K;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.A1455G:p.K485K;	0.729321184007643	0.638
18	2931255	T	G	18	2931257	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.A1455C:p.K485N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.A1455C:p.K485N;	0.989359095367916	0.902
18	2931256	T	A	18	2931258	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.A1454T:p.K485I;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.A1454T:p.K485I;	0.932321222591321	0.66
18	2931256	T	C	18	2931258	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.A1454G:p.K485R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.A1454G:p.K485R;	0.237599613116836	0.344
18	2931256	T	G	18	2931258	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.A1454C:p.K485T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.A1454C:p.K485T;	0.289343466620336	0.524
18	2931440	C	A	18	2931442	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon9:c.G1270T:p.E424X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon9:c.G1270T:p.E424X;	0.982979585512687	0.898
18	2931440	C	G	18	2931442	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.G1270C:p.E424Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.G1270C:p.E424Q;	0.958586724303116	0.822
18	2931440	C	T	18	2931442	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.G1270A:p.E424K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.G1270A:p.E424K;	0.990496088711768	0.714
18	2931441	A	C	18	2931443	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.T1269G:p.S423R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.T1269G:p.S423R;	4.67086169571196E-4	0.228
18	2931441	A	G	18	2931443	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon9:c.T1269C:p.S423S;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.T1269C:p.S423S;	5.54758772340388E-5	0.04
18	2931441	A	T	18	2931443	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon9:c.T1269A:p.S423R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon9:c.T1269A:p.S423R;	1.15861480411914E-4	0.004
18	2931442	C	A	18	2931444	y	y	splicing	LPIN2(NM_014646:exon10:c.1269-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1269-1G>T)	.	.	0.999950207824055	0.952
18	2931442	C	G	18	2931444	y	y	splicing	LPIN2(NM_014646:exon10:c.1269-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1269-1G>C)	.	.	0.999967518326798	0.95
18	2931442	C	T	18	2931444	y	y	splicing	LPIN2(NM_014646:exon10:c.1269-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1269-1G>A)	.	.	0.999950207824055	0.952
18	2931443	T	A	18	2931445	y	y	splicing	LPIN2(NM_014646:exon10:c.1269-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1269-2A>T)	.	.	0.999945797535514	0.922
18	2931443	T	C	18	2931445	y	y	splicing	LPIN2(NM_014646:exon10:c.1269-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1269-2A>G)	.	.	0.99996764000787	0.92
18	2931443	T	G	18	2931445	y	y	splicing	LPIN2(NM_014646:exon10:c.1269-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon10:c.1269-2A>C)	.	.	0.99996764000787	0.92
18	2931444	G	A	18	2931446	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0138931098091456	0.21
18	2931444	G	C	18	2931446	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999924834082937	0.744
18	2931444	G	T	18	2931446	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.975165708755995	0.81
18	2931445	T	A	18	2931447	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.42847515146987E-4	0.002
18	2931445	T	C	18	2931447	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.85135898194117E-4	0.004
18	2931445	T	G	18	2931447	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.94118359005996E-5	0.024
18	2931446	G	A	18	2931448	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.11417001273435E-4	0.056
18	2931446	G	C	18	2931448	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00792600158161366	0.146
18	2931446	G	T	18	2931448	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0018146622081615	0.092
18	2931447	G	A	18	2931449	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.17416284658467E-5	0.008
18	2931447	G	C	18	2931449	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.71122871545216E-4	0.128
18	2931447	G	T	18	2931449	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.87730663797266E-4	0.136
18	2931448	A	C	18	2931450	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.31240898480964E-4	0.036
18	2931448	A	G	18	2931450	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.49726866461574E-5	0.0
18	2931448	A	T	18	2931450	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00117973901422189	0.068
18	2931449	C	A	18	2931451	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.42982077390183E-5	0.018
18	2931449	C	G	18	2931451	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.85949847503172E-5	0.04
18	2931449	C	T	18	2931451	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.38224395557937E-5	0.07
18	2931450	A	C	18	2931452	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00353004475677936	0.108
18	2931450	A	G	18	2931452	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00222084831937016	0.032
18	2931450	A	T	18	2931452	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999959864059072	0.98
18	2931451	G	A	18	2931453	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.05610046827754E-4	0.004
18	2931451	G	C	18	2931453	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0027861755565609	0.088
18	2931451	G	T	18	2931453	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.79797239932622E-4	0.068
18	2931452	G	A	18	2931454	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.55908716824608E-5	0.0
18	2931452	G	C	18	2931454	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.19623643291433E-4	0.022
18	2931452	G	T	18	2931454	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.39783850941404E-4	0.052
18	2931453	G	A	18	2931455	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.35082844333272E-5	0.0
18	2931453	G	C	18	2931455	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.55081785768076E-4	0.056
18	2931453	G	T	18	2931455	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.27110984855225E-4	0.056
18	2934341	C	A	18	2934343	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.32657135402242E-4	0.006
18	2934341	C	G	18	2934343	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.66969423400938E-4	0.078
18	2934341	C	T	18	2934343	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.29004809893719E-4	0.084
18	2934342	A	C	18	2934344	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.45546893258266E-5	0.002
18	2934342	A	G	18	2934344	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.7176582166569E-5	0.0
18	2934342	A	T	18	2934344	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.41276754791998E-5	0.0
18	2934343	C	A	18	2934345	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.33697325221891E-5	0.018
18	2934343	C	G	18	2934345	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.08872418361939E-4	0.018
18	2934343	C	T	18	2934345	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.96154202205426E-5	0.006
18	2934344	T	A	18	2934346	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.11465822399713E-4	0.018
18	2934344	T	C	18	2934346	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.67871564239444E-5	0.028
18	2934344	T	G	18	2934346	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.48902451248586E-5	0.008
18	2934345	C	A	18	2934347	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.15141140357603E-4	0.086
18	2934345	C	G	18	2934347	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.12059466854849E-4	0.176
18	2934345	C	T	18	2934347	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.47340164157334E-5	0.186
18	2934346	T	A	18	2934348	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999892534955344	0.962
18	2934346	T	C	18	2934348	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.997536883566444	0.84
18	2934346	T	G	18	2934348	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999879579481289	0.95
18	2934347	A	C	18	2934349	y	y	splicing	LPIN2(NM_014646:exon9:c.1268+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1268+2T>G)	.	.	0.999988247793601	0.928
18	2934347	A	G	18	2934349	y	y	splicing	LPIN2(NM_014646:exon9:c.1268+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1268+2T>C)	.	.	0.98918007292081	0.668
18	2934347	A	T	18	2934349	y	y	splicing	LPIN2(NM_014646:exon9:c.1268+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1268+2T>A)	.	.	0.999988247793601	0.93
18	2934348	C	A	18	2934350	y	y	splicing	LPIN2(NM_014646:exon9:c.1268+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1268+1G>T)	.	.	0.999990361384395	0.938
18	2934348	C	G	18	2934350	y	y	splicing	LPIN2(NM_014646:exon9:c.1268+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1268+1G>C)	.	.	0.999990361384395	0.936
18	2934348	C	T	18	2934350	y	y	splicing	LPIN2(NM_014646:exon9:c.1268+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1268+1G>A)	.	.	0.999990361384395	0.938
18	2934349	C	A	18	2934351	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.G1268T:p.S423I;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.G1268T:p.S423I;	0.99999174582164	0.998
18	2934349	C	G	18	2934351	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.G1268C:p.S423T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.G1268C:p.S423T;	0.999997360428448	1.0
18	2934349	C	T	18	2934351	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.G1268A:p.S423N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.G1268A:p.S423N;	0.999990979113977	1.0
18	2934350	T	A	18	2934352	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.A1267T:p.S423C;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.A1267T:p.S423C;	0.999981509381776	1.0
18	2934350	T	C	18	2934352	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.A1267G:p.S423G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.A1267G:p.S423G;	0.999972736095577	0.996
18	2934350	T	G	18	2934352	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.A1267C:p.S423R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.A1267C:p.S423R;	0.999938151101861	0.998
18	2934351	T	A	18	2934353	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.A1266T:p.K422N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.A1266T:p.K422N;	0.993098452641008	0.816
18	2934351	T	C	18	2934353	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon8:c.A1266G:p.K422K;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.A1266G:p.K422K;	0.0183019197499102	0.13
18	2934351	T	G	18	2934353	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.A1266C:p.K422N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.A1266C:p.K422N;	0.0749867415973015	0.33
18	2934447	A	C	18	2934449	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon8:c.T1170G:p.G390G;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.T1170G:p.G390G;	1.11829677135217E-4	0.0
18	2934447	A	G	18	2934449	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon8:c.T1170C:p.G390G;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.T1170C:p.G390G;	7.78954735336183E-5	0.01
18	2934447	A	T	18	2934449	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon8:c.T1170A:p.G390G;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.T1170A:p.G390G;	1.11829677135217E-4	0.0
18	2934448	C	A	18	2934450	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.G1169T:p.G390V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.G1169T:p.G390V;	0.748948114208387	0.562
18	2934448	C	G	18	2934450	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.G1169C:p.G390A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.G1169C:p.G390A;	0.241790982439934	0.424
18	2934448	C	T	18	2934450	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon8:c.G1169A:p.G390D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon8:c.G1169A:p.G390D;	0.740494911095795	0.428
18	2934449	C	A	18	2934451	y	y	splicing	LPIN2(NM_014646:exon9:c.1169-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1169-1G>T)	.	.	0.99995545544995	0.934
18	2934449	C	G	18	2934451	y	y	splicing	LPIN2(NM_014646:exon9:c.1169-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1169-1G>C)	.	.	0.99995545544995	0.936
18	2934449	C	T	18	2934451	y	y	splicing	LPIN2(NM_014646:exon9:c.1169-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1169-1G>A)	.	.	0.99995545544995	0.932
18	2934450	T	A	18	2934452	y	y	splicing	LPIN2(NM_014646:exon9:c.1169-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1169-2A>T)	.	.	0.99994568797423	0.944
18	2934450	T	C	18	2934452	y	y	splicing	LPIN2(NM_014646:exon9:c.1169-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1169-2A>G)	.	.	0.99994568797423	0.946
18	2934450	T	G	18	2934452	y	y	splicing	LPIN2(NM_014646:exon9:c.1169-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon9:c.1169-2A>C)	.	.	0.999946188727699	0.934
18	2934451	G	A	18	2934453	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00159612143460366	0.136
18	2934451	G	C	18	2934453	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999833084644803	0.926
18	2934451	G	T	18	2934453	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.294491958984682	0.436
18	2934452	T	A	18	2934454	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.27957508688074E-5	0.012
18	2934452	T	C	18	2934454	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.813264661359593	0.698
18	2934452	T	G	18	2934454	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.05072796257766E-5	0.008
18	2934453	T	A	18	2934455	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.59414189364888E-5	0.05
18	2934453	T	C	18	2934455	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.997906135391905	0.942
18	2934453	T	G	18	2934455	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.01968503000481E-5	0.018
18	2934454	T	A	18	2934456	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.69507897176938E-5	0.002
18	2934454	T	C	18	2934456	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.07138634377927E-5	0.014
18	2934454	T	G	18	2934456	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.22932919055263E-5	0.0
18	2934455	A	C	18	2934457	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.59022761015398E-4	0.056
18	2934455	A	G	18	2934457	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.38812115266541E-5	0.002
18	2934455	A	T	18	2934457	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00133693764812811	0.058
18	2934456	A	C	18	2934458	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.24985527698421E-4	0.042
18	2934456	A	G	18	2934458	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.44161660695998E-5	0.0
18	2934456	A	T	18	2934458	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00223905250568705	0.04
18	2934457	A	C	18	2934459	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0056755872315049	0.108
18	2934457	A	G	18	2934459	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.04168891878845E-5	0.0
18	2934457	A	T	18	2934459	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00973975072174354	0.106
18	2934458	A	C	18	2934460	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00110832637505084	0.396
18	2934458	A	G	18	2934460	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.19874980258712E-5	0.008
18	2934458	A	T	18	2934460	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0415661376089035	0.482
18	2934459	A	C	18	2934461	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0373114688247527	0.378
18	2934459	A	G	18	2934461	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.83316149036578E-4	0.084
18	2934459	A	T	18	2934461	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0703425124801532	0.388
18	2934460	A	C	18	2934462	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.050202618715175	0.396
18	2934460	A	G	18	2934462	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00106612045314676	0.052
18	2934460	A	T	18	2934462	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.450178406781677	0.524
18	2937682	A	C	18	2937684	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.86597937135435E-5	0.002
18	2937682	A	G	18	2937684	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.33815804894828E-5	0.0
18	2937682	A	T	18	2937684	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.59901939456998E-5	0.002
18	2937683	C	A	18	2937685	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.74236490953945E-4	0.012
18	2937683	C	G	18	2937685	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.17246496461593E-5	0.0
18	2937683	C	T	18	2937685	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.81104709051921E-5	0.0
18	2937684	G	A	18	2937686	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.70414912842622E-5	0.014
18	2937684	G	C	18	2937686	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.56900579215916E-5	0.012
18	2937684	G	T	18	2937686	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.02577849396243E-5	0.006
18	2937685	A	C	18	2937687	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.47078151177176E-4	0.046
18	2937685	A	G	18	2937687	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.37872065416111E-4	0.04
18	2937685	A	T	18	2937687	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.59478339349E-4	0.012
18	2937686	T	A	18	2937688	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.853350898504242	0.586
18	2937686	T	C	18	2937688	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.840266676121019	0.61
18	2937686	T	G	18	2937688	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.362851233004745	0.45
18	2937687	T	A	18	2937689	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999886198383561	0.982
18	2937687	T	C	18	2937689	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999100776781214	0.964
18	2937687	T	G	18	2937689	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999938772790653	0.992
18	2937688	A	C	18	2937690	y	y	splicing	LPIN2(NM_014646:exon8:c.1168+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.1168+2T>G)	.	.	0.999988247793601	0.928
18	2937688	A	G	18	2937690	y	y	splicing	LPIN2(NM_014646:exon8:c.1168+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.1168+2T>C)	.	.	0.99340600729494	0.68
18	2937688	A	T	18	2937690	y	y	splicing	LPIN2(NM_014646:exon8:c.1168+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.1168+2T>A)	.	.	0.999988247793601	0.928
18	2937689	C	A	18	2937691	y	y	splicing	LPIN2(NM_014646:exon8:c.1168+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.1168+1G>T)	.	.	0.999990361384395	0.938
18	2937689	C	G	18	2937691	y	y	splicing	LPIN2(NM_014646:exon8:c.1168+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.1168+1G>C)	.	.	0.999990361384395	0.938
18	2937689	C	T	18	2937691	y	y	splicing	LPIN2(NM_014646:exon8:c.1168+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.1168+1G>A)	.	.	0.999990361384395	0.938
18	2937690	C	A	18	2937692	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.G1168T:p.G390C;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.G1168T:p.G390C;	0.999989815109463	1.0
18	2937690	C	G	18	2937692	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.G1168C:p.G390R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.G1168C:p.G390R;	0.999997643939171	1.0
18	2937690	C	T	18	2937692	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.G1168A:p.G390S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.G1168A:p.G390S;	0.999994222381975	1.0
18	2937691	T	A	18	2937693	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.A1167T:p.K389N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.A1167T:p.K389N;	0.999845410348459	0.994
18	2937691	T	C	18	2937693	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon7:c.A1167G:p.K389K;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.A1167G:p.K389K;	0.998558712533559	0.978
18	2937691	T	G	18	2937693	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.A1167C:p.K389N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.A1167C:p.K389N;	0.997188575579172	0.916
18	2937692	T	A	18	2937694	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.A1166T:p.K389I;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.A1166T:p.K389I;	0.635679741684228	0.486
18	2937692	T	C	18	2937694	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.A1166G:p.K389R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.A1166G:p.K389R;	0.00206276593078018	0.1
18	2937692	T	G	18	2937694	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.A1166C:p.K389T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.A1166C:p.K389T;	0.00318985421941447	0.088
18	2938034	A	C	18	2938036	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.T824G:p.V275G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.T824G:p.V275G;	0.696525781530279	0.416
18	2938034	A	G	18	2938036	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.T824C:p.V275A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.T824C:p.V275A;	0.00826250906803174	0.122
18	2938034	A	T	18	2938036	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.T824A:p.V275D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.T824A:p.V275D;	0.684803697114654	0.436
18	2938035	C	A	18	2938037	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.G823T:p.V275F;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.G823T:p.V275F;	0.792326647594448	0.474
18	2938035	C	G	18	2938037	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.G823C:p.V275L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.G823C:p.V275L;	0.359620825017329	0.56
18	2938035	C	T	18	2938037	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon7:c.G823A:p.V275I;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon7:c.G823A:p.V275I;	0.0058475816772558	0.194
18	2938036	C	A	18	2938038	y	y	splicing	LPIN2(NM_014646:exon8:c.823-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.823-1G>T)	.	.	0.999990361384395	0.938
18	2938036	C	G	18	2938038	y	y	splicing	LPIN2(NM_014646:exon8:c.823-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.823-1G>C)	.	.	0.999990361384395	0.938
18	2938036	C	T	18	2938038	y	y	splicing	LPIN2(NM_014646:exon8:c.823-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.823-1G>A)	.	.	0.999990361384395	0.934
18	2938037	T	A	18	2938039	y	y	splicing	LPIN2(NM_014646:exon8:c.823-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.823-2A>T)	.	.	0.99994568797423	0.94
18	2938037	T	C	18	2938039	y	y	splicing	LPIN2(NM_014646:exon8:c.823-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.823-2A>G)	.	.	0.99994568797423	0.946
18	2938037	T	G	18	2938039	y	y	splicing	LPIN2(NM_014646:exon8:c.823-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon8:c.823-2A>C)	.	.	0.99994568797423	0.944
18	2938038	A	C	18	2938040	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998949644906469	0.7
18	2938038	A	G	18	2938040	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.62773550984428E-4	0.042
18	2938038	A	T	18	2938040	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00313145897277325	0.238
18	2938039	A	C	18	2938041	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00117423257346798	0.094
18	2938039	A	G	18	2938041	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.38218832709187E-5	0.062
18	2938039	A	T	18	2938041	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.3972740055438E-5	0.002
18	2938040	A	C	18	2938042	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.566916125193509	0.48
18	2938040	A	G	18	2938042	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00101176191140037	0.024
18	2938040	A	T	18	2938042	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.54337908999746	0.44
18	2938041	A	C	18	2938043	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.36826736720712	0.438
18	2938041	A	G	18	2938043	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.9356607249381E-4	0.076
18	2938041	A	T	18	2938043	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.507528128389777	0.446
18	2938042	A	C	18	2938044	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0619881820332378	0.286
18	2938042	A	G	18	2938044	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.15058020537499E-5	0.01
18	2938042	A	T	18	2938044	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0240173206638954	0.238
18	2938043	A	C	18	2938045	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0551977055142598	0.392
18	2938043	A	G	18	2938045	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.53188214932209E-4	0.026
18	2938043	A	T	18	2938045	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.481699542152144	0.438
18	2938044	G	A	18	2938046	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.09185655950218E-4	0.066
18	2938044	G	C	18	2938046	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999156171497042	0.782
18	2938044	G	T	18	2938046	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.12497131024616E-4	0.132
18	2938045	T	A	18	2938047	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.37434931905845E-5	0.004
18	2938045	T	C	18	2938047	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.996241368830296	0.98
18	2938045	T	G	18	2938047	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.28910680700124E-5	0.008
18	2938046	T	A	18	2938048	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.80097442782705E-4	0.144
18	2938046	T	C	18	2938048	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.87467127810917E-5	0.0
18	2938046	T	G	18	2938048	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.86397531103505E-5	0.002
18	2938047	A	C	18	2938049	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00337211304030152	0.402
18	2938047	A	G	18	2938049	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.62049370828969E-5	0.008
18	2938047	A	T	18	2938049	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.286411873427075	0.482
18	2939470	C	A	18	2939472	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.92762236265396E-5	0.0
18	2939470	C	G	18	2939472	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.92762236265396E-5	0.0
18	2939470	C	T	18	2939472	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.45012381934739E-4	0.0
18	2939471	C	A	18	2939473	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.33316061012953E-5	0.0
18	2939471	C	G	18	2939473	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.33316061012953E-5	0.0
18	2939471	C	T	18	2939473	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.55176795181999E-6	0.004
18	2939472	T	A	18	2939474	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.53816684797199E-6	0.074
18	2939472	T	C	18	2939474	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.63100522936529E-5	0.002
18	2939472	T	G	18	2939474	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.14036697972667E-5	0.05
18	2939473	A	C	18	2939475	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.27220028515655E-5	0.074
18	2939473	A	G	18	2939475	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.70218758159584E-5	0.004
18	2939473	A	T	18	2939475	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.28668708976204E-5	0.016
18	2939474	G	A	18	2939476	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.80686907509417E-4	0.04
18	2939474	G	C	18	2939476	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.91966570917281E-4	0.038
18	2939474	G	T	18	2939476	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.94139840492199E-4	0.032
18	2939475	T	A	18	2939477	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999880640545386	0.948
18	2939475	T	C	18	2939477	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.994288938557963	0.854
18	2939475	T	G	18	2939477	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999864207805277	0.92
18	2939476	A	C	18	2939478	y	y	splicing	LPIN2(NM_014646:exon7:c.822+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.822+2T>G)	.	.	0.99994568797423	0.94
18	2939476	A	G	18	2939478	y	y	splicing	LPIN2(NM_014646:exon7:c.822+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.822+2T>C)	.	.	0.967051399846647	0.732
18	2939476	A	T	18	2939478	y	y	splicing	LPIN2(NM_014646:exon7:c.822+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.822+2T>A)	.	.	0.99994568797423	0.93
18	2939477	C	A	18	2939479	y	y	splicing	LPIN2(NM_014646:exon7:c.822+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.822+1G>T)	.	.	0.99995545544995	0.928
18	2939477	C	G	18	2939479	y	y	splicing	LPIN2(NM_014646:exon7:c.822+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.822+1G>C)	.	.	0.99995545544995	0.924
18	2939477	C	T	18	2939479	y	y	splicing	LPIN2(NM_014646:exon7:c.822+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.822+1G>A)	.	.	0.999975938198618	0.928
18	2939478	C	A	18	2939480	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.G822T:p.K274N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.G822T:p.K274N;	0.999995009246243	1.0
18	2939478	C	G	18	2939480	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.G822C:p.K274N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.G822C:p.K274N;	0.999997925665413	1.0
18	2939478	C	T	18	2939480	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon6:c.G822A:p.K274K;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.G822A:p.K274K;	0.999990453305808	1.0
18	2939479	T	A	18	2939481	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.A821T:p.K274M;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.A821T:p.K274M;	0.999943475199768	0.994
18	2939479	T	C	18	2939481	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.A821G:p.K274R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.A821G:p.K274R;	0.997140696597651	0.902
18	2939479	T	G	18	2939481	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.A821C:p.K274T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.A821C:p.K274T;	0.9999391401433	0.998
18	2939480	T	A	18	2939482	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon6:c.A820T:p.K274X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000261596:exon6:c.A820T:p.K274X;	0.998308027963374	0.818
18	2939480	T	C	18	2939482	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.A820G:p.K274E;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.A820G:p.K274E;	0.552185022972786	0.53
18	2939480	T	G	18	2939482	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.A820C:p.K274Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.A820C:p.K274Q;	0.0134878676346534	0.136
18	2939600	T	A	18	2939602	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.A700T:p.T234S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.A700T:p.T234S;	3.66364107877708E-5	0.0
18	2939600	T	C	18	2939602	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.A700G:p.T234A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.A700G:p.T234A;	2.16658369512602E-4	0.006
18	2939600	T	G	18	2939602	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon6:c.A700C:p.T234P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.A700C:p.T234P;	1.15390859160071E-4	0.0
18	2939601	G	A	18	2939603	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon6:c.C699T:p.T233T;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.C699T:p.T233T;	6.19099471669444E-5	0.052
18	2939601	G	C	18	2939603	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon6:c.C699G:p.T233T;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.C699G:p.T233T;	1.47320174214105E-4	0.244
18	2939601	G	T	18	2939603	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon6:c.C699A:p.T233T;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000261596:exon6:c.C699A:p.T233T;	3.0757980070862E-5	0.012
18	2939602	C	A	18	2939604	y	y	splicing	LPIN2(NM_014646:exon7:c.699-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.699-1G>T)	.	.	0.999952286258862	0.856
18	2939602	C	G	18	2939604	y	y	splicing	LPIN2(NM_014646:exon7:c.699-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.699-1G>C)	.	.	0.99995299556238	0.854
18	2939602	C	T	18	2939604	y	y	splicing	LPIN2(NM_014646:exon7:c.699-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.699-1G>A)	.	.	0.999952286258862	0.872
18	2939603	T	A	18	2939605	y	y	splicing	LPIN2(NM_014646:exon7:c.699-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.699-2A>T)	.	.	0.999951957019574	0.884
18	2939603	T	C	18	2939605	y	y	splicing	LPIN2(NM_014646:exon7:c.699-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.699-2A>G)	.	.	0.999971317418422	0.9
18	2939603	T	G	18	2939605	y	y	splicing	LPIN2(NM_014646:exon7:c.699-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon7:c.699-2A>C)	.	.	0.999971317418422	0.9
18	2939604	G	A	18	2939606	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.40596495889007E-4	0.018
18	2939604	G	C	18	2939606	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999856740264942	0.952
18	2939604	G	T	18	2939606	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.737710206255897	0.61
18	2939605	C	A	18	2939607	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.04673276955079E-5	0.04
18	2939605	C	G	18	2939607	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.71143371907366E-5	0.054
18	2939605	C	T	18	2939607	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.63815822794473E-5	0.046
18	2939606	A	C	18	2939608	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00143470594642276	0.188
18	2939606	A	G	18	2939608	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.88591404841506E-5	0.008
18	2939606	A	T	18	2939608	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.997361682396166	0.816
18	2939607	A	C	18	2939609	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.53538302122094E-4	0.05
18	2939607	A	G	18	2939609	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.89395401815298E-5	0.002
18	2939607	A	T	18	2939609	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.40287582476641E-4	0.038
18	2939608	A	C	18	2939610	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0117424752929852	0.186
18	2939608	A	G	18	2939610	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.16097575300711E-4	0.026
18	2939608	A	T	18	2939610	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00936024481374672	0.208
18	2939609	G	A	18	2939611	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.60544993072391E-5	0.0
18	2939609	G	C	18	2939611	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.39193758012179E-4	0.008
18	2939609	G	T	18	2939611	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.1161758138079E-4	0.014
18	2939610	A	C	18	2939612	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.16501834868404E-4	0.112
18	2939610	A	G	18	2939612	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.42247437987393E-5	0.014
18	2939610	A	T	18	2939612	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00114751134238563	0.114
18	2939611	G	A	18	2939613	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.26236824254026E-5	0.0
18	2939611	G	C	18	2939613	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.94255056130996E-5	0.016
18	2939611	G	T	18	2939613	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.65416704176661E-5	0.024
18	2939612	A	C	18	2939614	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00417255245932131	0.166
18	2939612	A	G	18	2939614	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.21306231727347E-4	0.052
18	2939612	A	T	18	2939614	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.019397992751492	0.184
18	2939613	A	C	18	2939615	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00515118421501682	0.102
18	2939613	A	G	18	2939615	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.9185136254993E-4	0.0
18	2939613	A	T	18	2939615	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00274857186363352	0.086
18	2940595	A	C	18	2940597	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.28806331816231E-4	0.022
18	2940595	A	G	18	2940597	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.28806331816231E-4	0.032
18	2940595	A	T	18	2940597	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.28806331816231E-4	0.014
18	2940596	T	A	18	2940598	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.31897704433313E-5	0.0
18	2940596	T	C	18	2940598	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.10215037150982E-5	0.0
18	2940596	T	G	18	2940598	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.84611529246346E-5	0.01
18	2940597	A	C	18	2940599	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0588288077397985	0.402
18	2940597	A	G	18	2940599	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.249433377286247	0.464
18	2940597	A	T	18	2940599	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.117044830317332	0.332
18	2940598	C	A	18	2940600	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999669564300687	0.706
18	2940598	C	G	18	2940600	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.997734172995595	0.77
18	2940598	C	T	18	2940600	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999782460239294	0.796
18	2940599	T	A	18	2940601	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.296191118530486	0.38
18	2940599	T	C	18	2940601	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.899880978299726	0.558
18	2940599	T	G	18	2940601	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.0909191848305386	0.314
18	2940600	T	A	18	2940602	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.998331854730789	0.73
18	2940600	T	C	18	2940602	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.96370073882276E-4	0.114
18	2940600	T	G	18	2940602	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.96245408794876	0.73
18	2940601	A	C	18	2940603	y	y	splicing	LPIN2(NM_014646:exon6:c.698+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.698+2T>G)	.	.	0.999978952611685	0.928
18	2940601	A	G	18	2940603	y	y	splicing	LPIN2(NM_014646:exon6:c.698+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.698+2T>C)	.	.	0.986061207776931	0.618
18	2940601	A	T	18	2940603	y	y	splicing	LPIN2(NM_014646:exon6:c.698+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.698+2T>A)	.	.	0.999988247793601	0.926
18	2940602	C	A	18	2940604	y	y	splicing	LPIN2(NM_014646:exon6:c.698+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.698+1G>T)	.	.	0.999985532734767	0.936
18	2940602	C	G	18	2940604	y	y	splicing	LPIN2(NM_014646:exon6:c.698+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.698+1G>C)	.	.	0.999985532734767	0.936
18	2940602	C	T	18	2940604	y	y	splicing	LPIN2(NM_014646:exon6:c.698+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.698+1G>A)	.	.	0.999985532734767	0.932
18	2940603	G	A	18	2940605	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.C698T:p.T233I;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon5:c.C698T:p.T233I;	1.68003163458148E-4	0.078
18	2940603	G	C	18	2940605	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.C698G:p.T233S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon5:c.C698G:p.T233S;	2.4427910404284E-5	0.142
18	2940603	G	T	18	2940605	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.C698A:p.T233N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon5:c.C698A:p.T233N;	6.52720165393761E-5	0.008
18	2940604	T	A	18	2940606	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.A697T:p.T233S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon5:c.A697T:p.T233S;	0.239451016013269	0.326
18	2940604	T	C	18	2940606	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.A697G:p.T233A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon5:c.A697G:p.T233A;	0.981423969077613	0.832
18	2940604	T	G	18	2940606	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.A697C:p.T233P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000261596:exon5:c.A697C:p.T233P;	0.979256356230992	0.87
18	2940605	C	A	18	2940607	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.G696T:p.E232D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon5:c.G696T:p.E232D;ENSG00000101577:ENST00000261596:exon5:c.G696T:p.E232D;	7.21079261992283E-5	0.004
18	2940605	C	G	18	2940607	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.G696C:p.E232D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon5:c.G696C:p.E232D;ENSG00000101577:ENST00000261596:exon5:c.G696C:p.E232D;	1.65007092706707E-5	0.0
18	2940605	C	T	18	2940607	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon5:c.G696A:p.E232E;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon5:c.G696A:p.E232E;ENSG00000101577:ENST00000261596:exon5:c.G696A:p.E232E;	5.05370859245973E-5	0.0
18	2940709	C	A	18	2940711	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon5:c.G592T:p.G198X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000584294:exon5:c.G592T:p.G198X;ENSG00000101577:ENST00000261596:exon5:c.G592T:p.G198X;	0.51759782243656	0.586
18	2940709	C	G	18	2940711	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.G592C:p.G198R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon5:c.G592C:p.G198R;ENSG00000101577:ENST00000261596:exon5:c.G592C:p.G198R;	4.10811972318766E-4	0.056
18	2940709	C	T	18	2940711	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon5:c.G592A:p.G198R;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon5:c.G592A:p.G198R;ENSG00000101577:ENST00000261596:exon5:c.G592A:p.G198R;	0.00117665321603336	0.122
18	2940710	T	A	18	2940712	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon5:c.A591T:p.R197R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon5:c.A591T:p.R197R;ENSG00000101577:ENST00000261596:exon5:c.A591T:p.R197R;	0.0106492592371222	0.116
18	2940710	T	C	18	2940712	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon5:c.A591G:p.R197R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon5:c.A591G:p.R197R;ENSG00000101577:ENST00000261596:exon5:c.A591G:p.R197R;	6.57478555438156E-4	0.004
18	2940710	T	G	18	2940712	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon5:c.A591C:p.R197R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon5:c.A591C:p.R197R;ENSG00000101577:ENST00000261596:exon5:c.A591C:p.R197R;	0.00164408590456381	0.094
18	2940711	C	A	18	2940713	y	y	splicing	LPIN2(NM_014646:exon6:c.591-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.591-1G>T;ENST00000584294:exon6:c.591-1G>T)	.	.	0.999985532734767	0.946
18	2940711	C	G	18	2940713	y	y	splicing	LPIN2(NM_014646:exon6:c.591-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.591-1G>C;ENST00000584294:exon6:c.591-1G>C)	.	.	0.999985532734767	0.946
18	2940711	C	T	18	2940713	y	y	splicing	LPIN2(NM_014646:exon6:c.591-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.591-1G>A;ENST00000584294:exon6:c.591-1G>A)	.	.	0.999985532734767	0.946
18	2940712	T	A	18	2940714	y	y	splicing	LPIN2(NM_014646:exon6:c.591-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.591-2A>T;ENST00000584294:exon6:c.591-2A>T)	.	.	0.999978952611685	0.946
18	2940712	T	C	18	2940714	y	y	splicing	LPIN2(NM_014646:exon6:c.591-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.591-2A>G;ENST00000584294:exon6:c.591-2A>G)	.	.	0.999978952611685	0.944
18	2940712	T	G	18	2940714	y	y	splicing	LPIN2(NM_014646:exon6:c.591-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon6:c.591-2A>C;ENST00000584294:exon6:c.591-2A>C)	.	.	0.999978952611685	0.944
18	2940713	G	A	18	2940715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00119136184875385	0.016
18	2940713	G	C	18	2940715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999727552601211	0.954
18	2940713	G	T	18	2940715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.915370149667419	0.62
18	2940714	T	A	18	2940716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.5980209212576E-5	0.004
18	2940714	T	C	18	2940716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.33161703977234E-4	0.082
18	2940714	T	G	18	2940716	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.65994929785292E-5	0.028
18	2940715	G	A	18	2940717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.80454135531654E-5	0.028
18	2940715	G	C	18	2940717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.59008354996843E-5	0.078
18	2940715	G	T	18	2940717	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.16676702417709E-4	0.06
18	2940716	A	C	18	2940718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.012679718329071	0.226
18	2940716	A	G	18	2940718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00162934025666328	0.096
18	2940716	A	T	18	2940718	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00799998144057336	0.18
18	2940717	A	C	18	2940719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.98833340642457E-4	0.046
18	2940717	A	G	18	2940719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.39949020296039E-4	0.028
18	2940717	A	T	18	2940719	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.65032893507417E-4	0.06
18	2940718	G	A	18	2940720	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.73490129976718E-5	0.0
18	2940718	G	C	18	2940720	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00199785417084529	0.048
18	2940718	G	T	18	2940720	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00121321984406931	0.034
18	2940719	G	A	18	2940721	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.7439659638959E-5	0.004
18	2940719	G	C	18	2940721	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.88386910585214E-4	0.102
18	2940719	G	T	18	2940721	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00306443793927664	0.126
18	2940720	A	C	18	2940722	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00337123824106284	0.086
18	2940720	A	G	18	2940722	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.68933243109041E-4	0.01
18	2940720	A	T	18	2940722	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00276609431038834	0.106
18	2940721	G	A	18	2940723	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.62353046608951E-5	0.006
18	2940721	G	C	18	2940723	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.15775056668959E-4	0.058
18	2940721	G	T	18	2940723	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00128071124425636	0.032
18	2940722	A	C	18	2940724	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.26115827869234E-4	0.042
18	2940722	A	G	18	2940724	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.61166178193059E-4	0.002
18	2940722	A	T	18	2940724	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00295479716216795	0.066
18	2951045	A	C	18	2951047	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.34100185927528E-5	0.032
18	2951045	A	G	18	2951047	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.1079430115993E-5	0.014
18	2951045	A	T	18	2951047	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.36684374973492E-5	0.118
18	2951046	G	A	18	2951048	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.08488160564466E-5	0.03
18	2951046	G	C	18	2951048	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.14943646972724E-5	0.0
18	2951046	G	T	18	2951048	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	9.3519283322177E-6	0.0
18	2951047	T	A	18	2951049	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.06481237244302E-5	0.02
18	2951047	T	C	18	2951049	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.51993346142271E-4	0.0
18	2951047	T	G	18	2951049	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.12586674582838E-5	0.014
18	2951048	C	A	18	2951050	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.999871946568962	0.89
18	2951048	C	G	18	2951050	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.999322800464193	0.874
18	2951048	C	T	18	2951050	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.997340884421218	0.874
18	2951049	C	A	18	2951051	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.57750695849E-4	0.052
18	2951049	C	G	18	2951051	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	8.67118740531091E-5	0.06
18	2951049	C	T	18	2951051	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	8.89308092316498E-5	0.054
18	2951050	T	A	18	2951052	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.998202949044745	0.918
18	2951050	T	C	18	2951052	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.970501901326159	0.696
18	2951050	T	G	18	2951052	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.997796638464701	0.924
18	2951051	A	C	18	2951053	y	y	splicing	LPIN2(NM_014646:exon5:c.590+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.590+2T>G;ENST00000584294:exon5:c.590+2T>G)	.	.	0.999969255906173	0.868
18	2951051	A	G	18	2951053	y	y	splicing	LPIN2(NM_014646:exon5:c.590+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.590+2T>C;ENST00000584294:exon5:c.590+2T>C)	.	.	0.999527981942462	0.84
18	2951051	A	T	18	2951053	y	y	splicing	LPIN2(NM_014646:exon5:c.590+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.590+2T>A;ENST00000584294:exon5:c.590+2T>A)	.	.	0.999972155025474	0.894
18	2951052	C	A	18	2951054	y	y	splicing	LPIN2(NM_014646:exon5:c.590+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.590+1G>T;ENST00000584294:exon5:c.590+1G>T)	.	.	0.999971209564868	0.956
18	2951052	C	G	18	2951054	y	y	splicing	LPIN2(NM_014646:exon5:c.590+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.590+1G>C;ENST00000584294:exon5:c.590+1G>C)	.	.	0.999971209564868	0.956
18	2951052	C	T	18	2951054	y	y	splicing	LPIN2(NM_014646:exon5:c.590+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.590+1G>A;ENST00000584294:exon5:c.590+1G>A)	.	.	0.99995586615188	0.958
18	2951053	C	A	18	2951055	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.G590T:p.R197L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.G590T:p.R197L;ENSG00000101577:ENST00000261596:exon4:c.G590T:p.R197L;	0.999979979451559	0.994
18	2951053	C	G	18	2951055	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.G590C:p.R197P;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.G590C:p.R197P;ENSG00000101577:ENST00000261596:exon4:c.G590C:p.R197P;	0.99999576554663	1.0
18	2951053	C	T	18	2951055	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.G590A:p.R197Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.G590A:p.R197Q;ENSG00000101577:ENST00000261596:exon4:c.G590A:p.R197Q;	0.999993449941596	1.0
18	2951054	G	A	18	2951056	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon4:c.C589T:p.R197X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000584294:exon4:c.C589T:p.R197X;ENSG00000101577:ENST00000261596:exon4:c.C589T:p.R197X;	0.143710718138414	0.288
18	2951054	G	C	18	2951056	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.C589G:p.R197G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.C589G:p.R197G;ENSG00000101577:ENST00000261596:exon4:c.C589G:p.R197G;	0.00716619930351646	0.152
18	2951054	G	T	18	2951056	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon4:c.C589A:p.R197R;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.C589A:p.R197R;ENSG00000101577:ENST00000261596:exon4:c.C589A:p.R197R;	3.30842688321333E-5	0.052
18	2951055	T	A	18	2951057	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon4:c.A588T:p.A196A;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.A588T:p.A196A;ENSG00000101577:ENST00000261596:exon4:c.A588T:p.A196A;	7.55372932474651E-5	0.11
18	2951055	T	C	18	2951057	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon4:c.A588G:p.A196A;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.A588G:p.A196A;ENSG00000101577:ENST00000261596:exon4:c.A588G:p.A196A;	1.19439913678995E-4	0.048
18	2951055	T	G	18	2951057	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon4:c.A588C:p.A196A;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.A588C:p.A196A;ENSG00000101577:ENST00000261596:exon4:c.A588C:p.A196A;	1.81977181562654E-5	0.0
18	2951353	T	A	18	2951355	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.A290T:p.E97V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.A290T:p.E97V;ENSG00000101577:ENST00000261596:exon4:c.A290T:p.E97V;	0.074965633251869	0.282
18	2951353	T	C	18	2951355	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.A290G:p.E97G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.A290G:p.E97G;ENSG00000101577:ENST00000261596:exon4:c.A290G:p.E97G;	0.13414449414449	0.288
18	2951353	T	G	18	2951355	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.A290C:p.E97A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.A290C:p.E97A;ENSG00000101577:ENST00000261596:exon4:c.A290C:p.E97A;	0.244603442649715	0.304
18	2951354	C	A	18	2951356	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon4:c.G289T:p.E97X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000584294:exon4:c.G289T:p.E97X;ENSG00000101577:ENST00000261596:exon4:c.G289T:p.E97X;	0.999957395118295	0.998
18	2951354	C	G	18	2951356	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.G289C:p.E97Q;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.G289C:p.E97Q;ENSG00000101577:ENST00000261596:exon4:c.G289C:p.E97Q;	0.999943981164181	0.982
18	2951354	C	T	18	2951356	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon4:c.G289A:p.E97K;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon4:c.G289A:p.E97K;ENSG00000101577:ENST00000261596:exon4:c.G289A:p.E97K;	0.999885123780572	0.934
18	2951355	C	A	18	2951357	y	y	splicing	LPIN2(NM_014646:exon5:c.289-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.289-1G>T;ENST00000584294:exon5:c.289-1G>T)	.	.	0.999989125585301	0.944
18	2951355	C	G	18	2951357	y	y	splicing	LPIN2(NM_014646:exon5:c.289-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.289-1G>C;ENST00000584294:exon5:c.289-1G>C)	.	.	0.999989125585301	0.944
18	2951355	C	T	18	2951357	y	y	splicing	LPIN2(NM_014646:exon5:c.289-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.289-1G>A;ENST00000584294:exon5:c.289-1G>A)	.	.	0.999989125585301	0.944
18	2951356	T	A	18	2951358	y	y	splicing	LPIN2(NM_014646:exon5:c.289-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.289-2A>T;ENST00000584294:exon5:c.289-2A>T)	.	.	0.999986741007567	0.942
18	2951356	T	C	18	2951358	y	y	splicing	LPIN2(NM_014646:exon5:c.289-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.289-2A>G;ENST00000584294:exon5:c.289-2A>G)	.	.	0.999986741007567	0.942
18	2951356	T	G	18	2951358	y	y	splicing	LPIN2(NM_014646:exon5:c.289-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon5:c.289-2A>C;ENST00000584294:exon5:c.289-2A>C)	.	.	0.999986741007567	0.942
18	2951357	T	A	18	2951359	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.5039117383846E-4	0.03
18	2951357	T	C	18	2951359	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.0638348767113776	0.338
18	2951357	T	G	18	2951359	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.9749722889783E-4	0.168
18	2951358	G	A	18	2951360	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.78777385071608E-5	0.0
18	2951358	G	C	18	2951360	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.71033479603811E-5	0.0
18	2951358	G	T	18	2951360	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.10016097717291E-5	0.002
18	2951359	A	C	18	2951361	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.989940145776418	0.56
18	2951359	A	G	18	2951361	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.0566116307611335	0.264
18	2951359	A	T	18	2951361	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.806844971308972	0.512
18	2951360	G	A	18	2951362	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.14804011151379E-5	0.016
18	2951360	G	C	18	2951362	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.00255570653071751	0.132
18	2951360	G	T	18	2951362	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.27906892734788E-4	0.106
18	2951361	G	A	18	2951363	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.56100718891151E-5	0.042
18	2951361	G	C	18	2951363	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.10954843642989E-4	0.156
18	2951361	G	T	18	2951363	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.21149040160445E-4	0.128
18	2951362	A	C	18	2951364	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.59176472493623E-4	0.098
18	2951362	A	G	18	2951364	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	6.81660294598955E-5	0.002
18	2951362	A	T	18	2951364	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.57178920763762E-4	0.084
18	2951363	G	A	18	2951365	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.05179843554644E-5	0.0
18	2951363	G	C	18	2951365	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.73846117192402E-4	0.076
18	2951363	G	T	18	2951365	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.35996826323806E-4	0.094
18	2951364	A	C	18	2951366	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.0065959741492595	0.208
18	2951364	A	G	18	2951366	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.60358190821069E-4	0.046
18	2951364	A	T	18	2951366	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.00987914700348499	0.184
18	2951365	A	C	18	2951367	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.99959177626825	0.966
18	2951365	A	G	18	2951367	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.0118320342337501	0.148
18	2951365	A	T	18	2951367	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.00246448240946359	0.3
18	2951366	T	A	18	2951368	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.91157645574935E-5	0.0
18	2951366	T	C	18	2951368	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	7.13934029201379E-5	0.01
18	2951366	T	G	18	2951368	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.21343038154586E-5	0.0
18	2954494	A	C	18	2954496	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.46425991095372E-5	0.0
18	2954494	A	G	18	2954496	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	6.01342751532363E-5	0.0
18	2954494	A	T	18	2954496	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.46425991095372E-5	0.0
18	2954495	A	C	18	2954497	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	5.6963255882675E-5	0.002
18	2954495	A	G	18	2954497	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.11281249719065E-4	0.002
18	2954495	A	T	18	2954497	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.02246604075926E-4	0.008
18	2954496	A	C	18	2954498	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.967307261930013	0.656
18	2954496	A	G	18	2954498	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.994563172177691	0.746
18	2954496	A	T	18	2954498	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.996290090559972	0.76
18	2954497	C	A	18	2954499	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.999982940179558	0.982
18	2954497	C	G	18	2954499	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.999281878049217	0.842
18	2954497	C	T	18	2954499	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.999981963045962	0.99
18	2954498	T	A	18	2954500	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.994736855062991	0.836
18	2954498	T	C	18	2954500	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.996789583973437	0.81
18	2954498	T	G	18	2954500	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.990066194584161	0.78
18	2954499	T	A	18	2954501	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.978149857776192	0.528
18	2954499	T	C	18	2954501	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.0023934871438003	0.05
18	2954499	T	G	18	2954501	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.973782966547994	0.526
18	2954500	A	C	18	2954502	y	y	splicing	LPIN2(NM_014646:exon4:c.288+2T>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.288+2T>G;ENST00000584294:exon4:c.288+2T>G)	.	.	0.999988247793601	0.926
18	2954500	A	G	18	2954502	y	y	splicing	LPIN2(NM_014646:exon4:c.288+2T>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.288+2T>C;ENST00000584294:exon4:c.288+2T>C)	.	.	0.98918007292081	0.646
18	2954500	A	T	18	2954502	y	y	splicing	LPIN2(NM_014646:exon4:c.288+2T>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.288+2T>A;ENST00000584294:exon4:c.288+2T>A)	.	.	0.999988247793601	0.926
18	2954501	C	A	18	2954503	y	y	splicing	LPIN2(NM_014646:exon4:c.288+1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.288+1G>T;ENST00000584294:exon4:c.288+1G>T)	.	.	0.999985532734767	0.936
18	2954501	C	G	18	2954503	y	y	splicing	LPIN2(NM_014646:exon4:c.288+1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.288+1G>C;ENST00000584294:exon4:c.288+1G>C)	.	.	0.999985532734767	0.936
18	2954501	C	T	18	2954503	y	y	splicing	LPIN2(NM_014646:exon4:c.288+1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.288+1G>A;ENST00000584294:exon4:c.288+1G>A)	.	.	0.999985532734767	0.936
18	2954502	A	C	18	2954504	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon3:c.T288G:p.Y96X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000584294:exon3:c.T288G:p.Y96X;ENSG00000101577:ENST00000261596:exon3:c.T288G:p.Y96X;	0.0260907146680141	0.436
18	2954502	A	G	18	2954504	y	y	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon3:c.T288C:p.Y96Y;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.T288C:p.Y96Y;ENSG00000101577:ENST00000261596:exon3:c.T288C:p.Y96Y;	0.013832824944704	0.27
18	2954502	A	T	18	2954504	y	y	exonic	LPIN2	stopgain SNV	LPIN2:NM_014646:exon3:c.T288A:p.Y96X;	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000584294:exon3:c.T288A:p.Y96X;ENSG00000101577:ENST00000261596:exon3:c.T288A:p.Y96X;	0.111243259367507	0.372
18	2954503	T	A	18	2954505	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.A287T:p.Y96F;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.A287T:p.Y96F;ENSG00000101577:ENST00000261596:exon3:c.A287T:p.Y96F;	0.966225159258852	0.8
18	2954503	T	C	18	2954505	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.A287G:p.Y96C;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.A287G:p.Y96C;ENSG00000101577:ENST00000261596:exon3:c.A287G:p.Y96C;	0.991603955371302	0.894
18	2954503	T	G	18	2954505	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.A287C:p.Y96S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.A287C:p.Y96S;ENSG00000101577:ENST00000261596:exon3:c.A287C:p.Y96S;	0.468052075108692	0.502
18	2954504	A	C	18	2954506	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.T286G:p.Y96D;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.T286G:p.Y96D;ENSG00000101577:ENST00000261596:exon3:c.T286G:p.Y96D;	0.00195286191338853	0.06
18	2954504	A	G	18	2954506	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.T286C:p.Y96H;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.T286C:p.Y96H;ENSG00000101577:ENST00000261596:exon3:c.T286C:p.Y96H;	0.558528554452777	0.604
18	2954504	A	T	18	2954506	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.T286A:p.Y96N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.T286A:p.Y96N;ENSG00000101577:ENST00000261596:exon3:c.T286A:p.Y96N;	6.91965015931623E-4	0.03
18	2954596	A	C	18	2954598	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.T194G:p.I65S;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.T194G:p.I65S;ENSG00000101577:ENST00000261596:exon3:c.T194G:p.I65S;ENSG00000101577:ENST00000584915:exon3:c.T305G:p.I102S;	0.210854594402398	0.568
18	2954596	A	G	18	2954598	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.T194C:p.I65T;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.T194C:p.I65T;ENSG00000101577:ENST00000261596:exon3:c.T194C:p.I65T;ENSG00000101577:ENST00000584915:exon3:c.T305C:p.I102T;	0.185008258221938	0.542
18	2954596	A	T	18	2954598	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.T194A:p.I65N;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.T194A:p.I65N;ENSG00000101577:ENST00000261596:exon3:c.T194A:p.I65N;ENSG00000101577:ENST00000584915:exon3:c.T305A:p.I102N;	0.176259218158072	0.544
18	2954597	T	A	18	2954599	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.A193T:p.I65F;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.A193T:p.I65F;ENSG00000101577:ENST00000261596:exon3:c.A193T:p.I65F;ENSG00000101577:ENST00000584915:exon3:c.A304T:p.I102F;	0.291386531851437	0.528
18	2954597	T	C	18	2954599	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.A193G:p.I65V;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.A193G:p.I65V;ENSG00000101577:ENST00000261596:exon3:c.A193G:p.I65V;ENSG00000101577:ENST00000584915:exon3:c.A304G:p.I102V;	4.17099846214449E-4	0.008
18	2954597	T	G	18	2954599	y	y	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon3:c.A193C:p.I65L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon3:c.A193C:p.I65L;ENSG00000101577:ENST00000261596:exon3:c.A193C:p.I65L;ENSG00000101577:ENST00000584915:exon3:c.A304C:p.I102L;	0.241421458284321	0.648
18	2954598	C	A	18	2954600	y	y	splicing	LPIN2(NM_014646:exon4:c.193-1G>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.193-1G>T;ENST00000584294:exon4:c.193-1G>T;ENST00000584915:exon4:c.304-1G>T)	.	.	0.999981760802075	0.936
18	2954598	C	G	18	2954600	y	y	splicing	LPIN2(NM_014646:exon4:c.193-1G>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.193-1G>C;ENST00000584294:exon4:c.193-1G>C;ENST00000584915:exon4:c.304-1G>C)	.	.	0.999981760802075	0.936
18	2954598	C	T	18	2954600	y	y	splicing	LPIN2(NM_014646:exon4:c.193-1G>A)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.193-1G>A;ENST00000584294:exon4:c.193-1G>A;ENST00000584915:exon4:c.304-1G>A)	.	.	0.999981760802075	0.936
18	2954599	T	A	18	2954601	y	y	splicing	LPIN2(NM_014646:exon4:c.193-2A>T)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.193-2A>T;ENST00000584294:exon4:c.193-2A>T;ENST00000584915:exon4:c.304-2A>T)	.	.	0.999989917668626	0.926
18	2954599	T	C	18	2954601	y	y	splicing	LPIN2(NM_014646:exon4:c.193-2A>G)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.193-2A>G;ENST00000584294:exon4:c.193-2A>G;ENST00000584915:exon4:c.304-2A>G)	.	.	0.999986903042585	0.928
18	2954599	T	G	18	2954601	y	y	splicing	LPIN2(NM_014646:exon4:c.193-2A>C)	.	.	splicing	ENSG00000101577(ENST00000261596:exon4:c.193-2A>C;ENST00000584294:exon4:c.193-2A>C;ENST00000584915:exon4:c.304-2A>C)	.	.	0.999986903042585	0.928
18	2954600	A	C	18	2954602	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.879894481018769	0.642
18	2954600	A	G	18	2954602	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.57041065259042E-5	0.0
18	2954600	A	T	18	2954602	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.00277829363917932	0.166
18	2954601	T	A	18	2954603	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	5.40381957350717E-5	0.0
18	2954601	T	C	18	2954603	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	6.52293868212492E-5	0.0
18	2954601	T	G	18	2954603	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.64588986117306E-5	0.0
18	2954602	G	A	18	2954604	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.86114389695239E-5	0.016
18	2954602	G	C	18	2954604	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	8.49131294470528E-4	0.128
18	2954602	G	T	18	2954604	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	8.54553589739273E-4	0.1
18	2954603	G	A	18	2954605	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.80393607858975E-5	0.016
18	2954603	G	C	18	2954605	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	8.38518206186417E-4	0.106
18	2954603	G	T	18	2954605	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.87434370944108E-4	0.106
18	2954604	G	A	18	2954606	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.60745993545955E-5	0.02
18	2954604	G	C	18	2954606	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.70900105121497E-4	0.032
18	2954604	G	T	18	2954606	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	9.37226424735524E-4	0.132
18	2954605	A	C	18	2954607	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	6.61740694194049E-5	0.044
18	2954605	A	G	18	2954607	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.51530351837417E-5	0.0
18	2954605	A	T	18	2954607	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.68299263166771E-4	0.056
18	2954606	G	A	18	2954608	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.22241137994145E-4	0.062
18	2954606	G	C	18	2954608	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	1.22338500719842E-4	0.03
18	2954606	G	T	18	2954608	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	3.70985117575739E-4	0.048
18	2954607	A	C	18	2954609	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.0329754926753639	0.306
18	2954607	A	G	18	2954609	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.00219700132207558	0.084
18	2954607	A	T	18	2954609	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.0313466042973334	0.282
18	2954608	A	C	18	2954610	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	4.08640275834942E-4	0.222
18	2954608	A	G	18	2954610	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	2.83515984816185E-4	0.048
18	2954608	A	T	18	2954610	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	5.55425389273736E-4	0.16
18	2954609	A	C	18	2954611	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.249921570441026	0.462
18	2954609	A	G	18	2954611	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.058418057633181	0.292
18	2954609	A	T	18	2954611	y	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000265907	.	.	0.500085047707124	0.51
18	2960639	A	C	18	2960641	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	5.60899557452262E-5	0.026
18	2960639	A	G	18	2960641	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	9.85291117265603E-5	0.044
18	2960639	A	T	18	2960641	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	9.49025308921983E-5	0.032
18	2960640	C	A	18	2960642	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	9.7713247506175E-5	0.01
18	2960640	C	G	18	2960642	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	3.30961075601767E-4	0.002
18	2960640	C	T	18	2960642	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	3.00257471998127E-4	0.0
18	2960641	A	C	18	2960643	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.998856161363071	0.88
18	2960641	A	G	18	2960643	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.994848141084341	0.822
18	2960641	A	T	18	2960643	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999419945047127	0.85
18	2960642	C	A	18	2960644	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999986504255458	0.94
18	2960642	C	G	18	2960644	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999962646741929	0.972
18	2960642	C	T	18	2960644	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999973145479663	0.908
18	2960643	T	A	18	2960645	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999805863106855	0.938
18	2960643	T	C	18	2960645	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999619949829637	0.964
18	2960643	T	G	18	2960645	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999634671170366	0.944
18	2960644	C	A	18	2960646	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.461775003143332	0.502
18	2960644	C	G	18	2960646	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.678266107636895	0.608
18	2960644	C	T	18	2960646	y	n	intronic	LPIN2	.	.	ncRNA_exonic	ENSG00000265907	.	.	7.26350251565771E-6	0.048
18	2960645	A	C	18	2960647	y	n	splicing	LPIN2(NM_014646:exon3:c.192+2T>G)	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999988247793601	0.93
18	2960645	A	G	18	2960647	y	n	splicing	LPIN2(NM_014646:exon3:c.192+2T>C)	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999929727175276	0.868
18	2960645	A	T	18	2960647	y	n	splicing	LPIN2(NM_014646:exon3:c.192+2T>A)	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999988247793601	0.93
18	2960646	C	A	18	2960648	y	n	splicing	LPIN2(NM_014646:exon3:c.192+1G>T)	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999990361384395	0.938
18	2960646	C	G	18	2960648	y	n	splicing	LPIN2(NM_014646:exon3:c.192+1G>C)	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999990361384395	0.938
18	2960646	C	T	18	2960648	y	n	splicing	LPIN2(NM_014646:exon3:c.192+1G>A)	.	.	ncRNA_exonic	ENSG00000265907	.	.	0.999990361384395	0.938
18	2960647	C	A	18	2960649	y	n	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon2:c.G192T:p.V64V;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.G192T:p.V64V;ENSG00000101577:ENST00000261596:exon2:c.G192T:p.V64V;ENSG00000101577:ENST00000584915:exon2:c.G303T:p.V101V;	0.999959215809338	0.988
18	2960647	C	G	18	2960649	y	n	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon2:c.G192C:p.V64V;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.G192C:p.V64V;ENSG00000101577:ENST00000261596:exon2:c.G192C:p.V64V;ENSG00000101577:ENST00000584915:exon2:c.G303C:p.V101V;	0.999952996950326	0.97
18	2960647	C	T	18	2960649	y	n	exonic	LPIN2	synonymous SNV	LPIN2:NM_014646:exon2:c.G192A:p.V64V;	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.G192A:p.V64V;ENSG00000101577:ENST00000261596:exon2:c.G192A:p.V64V;ENSG00000101577:ENST00000584915:exon2:c.G303A:p.V101V;	0.999979241871814	0.96
18	2960648	A	C	18	2960650	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon2:c.T191G:p.V64G;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.T191G:p.V64G;ENSG00000101577:ENST00000261596:exon2:c.T191G:p.V64G;ENSG00000101577:ENST00000584915:exon2:c.T302G:p.V101G;	0.812898147936772	0.76
18	2960648	A	G	18	2960650	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon2:c.T191C:p.V64A;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.T191C:p.V64A;ENSG00000101577:ENST00000261596:exon2:c.T191C:p.V64A;ENSG00000101577:ENST00000584915:exon2:c.T302C:p.V101A;	0.951415972740629	0.932
18	2960648	A	T	18	2960650	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon2:c.T191A:p.V64E;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.T191A:p.V64E;ENSG00000101577:ENST00000261596:exon2:c.T191A:p.V64E;ENSG00000101577:ENST00000584915:exon2:c.T302A:p.V101E;	0.71201227278873	0.658
18	2960649	C	A	18	2960651	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon2:c.G190T:p.V64L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.G190T:p.V64L;ENSG00000101577:ENST00000261596:exon2:c.G190T:p.V64L;ENSG00000101577:ENST00000584915:exon2:c.G301T:p.V101L;	0.98860892035981	0.872
18	2960649	C	G	18	2960651	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon2:c.G190C:p.V64L;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.G190C:p.V64L;ENSG00000101577:ENST00000261596:exon2:c.G190C:p.V64L;ENSG00000101577:ENST00000584915:exon2:c.G301C:p.V101L;	0.964712407980246	0.802
18	2960649	C	T	18	2960651	y	n	exonic	LPIN2	nonsynonymous SNV	LPIN2:NM_014646:exon2:c.G190A:p.V64M;	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584294:exon2:c.G190A:p.V64M;ENSG00000101577:ENST00000261596:exon2:c.G190A:p.V64M;ENSG00000101577:ENST00000584915:exon2:c.G301A:p.V101M;	0.948131495709646	0.806
18	2960846	G	A	18	2960848	y	y	UTR5	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon2:c.C104T:p.S35F;	1.31830461864578E-4	0.0
18	2960846	G	C	18	2960848	y	y	UTR5	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon2:c.C104G:p.S35C;	0.00561435426338048	0.082
18	2960846	G	T	18	2960848	y	y	UTR5	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon2:c.C104A:p.S35Y;	6.7805327403161E-4	0.012
18	2960847	A	C	18	2960849	y	y	UTR5	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon2:c.T103G:p.S35A;	0.00371045499848586	0.046
18	2960847	A	G	18	2960849	y	y	UTR5	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon2:c.T103C:p.S35P;	0.18834579927226	0.366
18	2960847	A	T	18	2960849	y	y	UTR5	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon2:c.T103A:p.S35T;	0.0140261939373027	0.144
18	2960848	C	A	18	2960850	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon3:c.103-1G>T)	.	.	0.999990361384395	0.936
18	2960848	C	G	18	2960850	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon3:c.103-1G>C)	.	.	0.999990361384395	0.936
18	2960848	C	T	18	2960850	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon3:c.103-1G>A)	.	.	0.999990361384395	0.936
18	2960849	T	A	18	2960851	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon3:c.103-2A>T)	.	.	0.999988247793601	0.928
18	2960849	T	C	18	2960851	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon3:c.103-2A>G)	.	.	0.999988247793601	0.928
18	2960849	T	G	18	2960851	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon3:c.103-2A>C)	.	.	0.999988247793601	0.928
18	2960850	A	C	18	2960852	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.867591605791099	0.654
18	2960850	A	G	18	2960852	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.54990497164168E-5	0.0
18	2960850	A	T	18	2960852	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00197922459330659	0.132
18	2960851	C	A	18	2960853	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.26854546605933E-5	0.0
18	2960851	C	G	18	2960853	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.95349110657612E-5	0.006
18	2960851	C	T	18	2960853	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.79959049324557E-5	0.002
18	2960852	A	C	18	2960854	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.96552193291845E-4	0.082
18	2960852	A	G	18	2960854	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.81961118295711E-5	0.004
18	2960852	A	T	18	2960854	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.963027404957695	0.756
18	2960853	A	C	18	2960855	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00629937658969673	0.178
18	2960853	A	G	18	2960855	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.9949202988196E-4	0.006
18	2960853	A	T	18	2960855	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00709670956060534	0.14
18	2960854	G	A	18	2960856	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.89184576581388E-5	0.008
18	2960854	G	C	18	2960856	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.5376638535785E-4	0.024
18	2960854	G	T	18	2960856	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.04462575260175E-4	0.02
18	2960855	A	C	18	2960857	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	5.48091584721732E-4	0.034
18	2960855	A	G	18	2960857	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.70182071448047E-5	0.0
18	2960855	A	T	18	2960857	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.66379178918393E-4	0.026
18	2960856	A	C	18	2960858	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.92483385756337E-4	0.156
18	2960856	A	G	18	2960858	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.69773423318418E-5	0.014
18	2960856	A	T	18	2960858	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00241239479552002	0.122
18	2960857	A	C	18	2960859	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00303157227868293	0.146
18	2960857	A	G	18	2960859	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	3.90066940536621E-4	0.088
18	2960857	A	T	18	2960859	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00225048421624293	0.168
18	2960858	C	A	18	2960860	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	2.47212054456653E-5	0.072
18	2960858	C	G	18	2960860	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.88606817395936E-6	0.0
18	2960858	C	T	18	2960860	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.09547935923108E-4	0.002
18	2960859	A	C	18	2960861	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.00448962113136864	0.12
18	2960859	A	G	18	2960861	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	9.62531495876904E-5	0.008
18	2960859	A	T	18	2960861	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.999960301346979	0.972
18	2982658	T	A	18	2982660	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	1.45495379120052E-4	0.002
18	2982658	T	C	18	2982660	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	1.5982790009972E-4	0.004
18	2982658	T	G	18	2982660	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	1.5982790009972E-4	0.004
18	2982659	A	C	18	2982661	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	9.64454637883965E-5	0.008
18	2982659	A	G	18	2982661	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	9.64454637883965E-5	0.008
18	2982659	A	T	18	2982661	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	9.64454637883965E-5	0.002
18	2982660	A	C	18	2982662	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.0199393090821167	0.146
18	2982660	A	G	18	2982662	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.0199393090821167	0.138
18	2982660	A	T	18	2982662	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.0366453081164039	0.194
18	2982661	C	A	18	2982663	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.17477320534835	0.26
18	2982661	C	G	18	2982663	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.101747750884609	0.234
18	2982661	C	T	18	2982663	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.793118250434253	0.406
18	2982662	T	A	18	2982664	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.474349078336576	0.524
18	2982662	T	C	18	2982664	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.222386838235996	0.53
18	2982662	T	G	18	2982664	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.345393001444105	0.554
18	2982663	C	A	18	2982665	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.0861748975146968	0.126
18	2982663	C	G	18	2982665	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.064779472259659	0.106
18	2982663	C	T	18	2982665	n	y	intronic	LPIN2	.	.	ncRNA_intronic	ENSG00000266397	.	.	0.0861748975146968	0.17
18	2982664	A	C	18	2982666	n	y	intronic	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon2:c.102+2T>G)	.	.	0.92961721136914	0.78
18	2982664	A	G	18	2982666	n	y	intronic	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon2:c.102+2T>C)	.	.	0.92961721136914	0.78
18	2982664	A	T	18	2982666	n	y	intronic	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon2:c.102+2T>A)	.	.	0.92961721136914	0.768
18	2982665	C	A	18	2982667	n	y	intronic	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon2:c.102+1G>T)	.	.	0.993733916693694	0.864
18	2982665	C	G	18	2982667	n	y	intronic	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon2:c.102+1G>C)	.	.	0.993733916693694	0.87
18	2982665	C	T	18	2982667	n	y	intronic	LPIN2	.	.	splicing	ENSG00000101577(ENST00000584915:exon2:c.102+1G>A)	.	.	0.993733916693694	0.866
18	2982666	C	A	18	2982668	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon1:c.G102T:p.L34F;	0.992648088255867	0.854
18	2982666	C	G	18	2982668	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon1:c.G102C:p.L34F;	0.986152223221829	0.858
18	2982666	C	T	18	2982668	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584915:exon1:c.G102A:p.L34L;	0.923645538223766	0.716
18	2982667	A	C	18	2982669	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon1:c.T101G:p.L34W;	0.726702597113684	0.678
18	2982667	A	G	18	2982669	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon1:c.T101C:p.L34S;	0.474349078336576	0.56
18	2982667	A	T	18	2982669	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	stopgain SNV	ENSG00000101577:ENST00000584915:exon1:c.T101A:p.L34X;	0.954037698489188	0.898
18	2982668	A	C	18	2982670	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon1:c.T100G:p.L34V;	5.20669146406361E-5	0.01
18	2982668	A	G	18	2982670	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	synonymous SNV	ENSG00000101577:ENST00000584915:exon1:c.T100C:p.L34L;	5.00148997643306E-5	0.008
18	2982668	A	T	18	2982670	n	y	intronic	LPIN2	.	.	exonic	ENSG00000101577	nonsynonymous SNV	ENSG00000101577:ENST00000584915:exon1:c.T100A:p.L34M;	5.00148997643306E-5	0.008
18	3011708	T	A	18	3011710	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.2116635531637E-5	0.008
18	3011708	T	C	18	3011710	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	8.17583256270901E-5	0.0
18	3011708	T	G	18	3011710	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.39624276004523E-5	0.0
18	3011709	G	A	18	3011711	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	6.40815478000748E-4	0.056
18	3011709	G	C	18	3011711	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.1946260722832E-4	0.018
18	3011709	G	T	18	3011711	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	4.13699567543885E-5	0.004
18	3011710	A	C	18	3011712	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.322534408570665	0.504
18	3011710	A	G	18	3011712	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.336671999392615	0.438
18	3011710	A	T	18	3011712	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.722860273988367	0.514
18	3011711	C	A	18	3011713	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.959710957204463	0.474
18	3011711	C	G	18	3011713	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.992652089229976	0.526
18	3011711	C	T	18	3011713	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.978284909183229	0.472
18	3011712	A	C	18	3011714	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.11459118948066E-4	0.034
18	3011712	A	G	18	3011714	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	1.37777631179885E-4	0.018
18	3011712	A	T	18	3011714	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	7.88707856757748E-4	0.216
18	3011713	T	A	18	3011715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.995620238949763	0.7
18	3011713	T	C	18	3011715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.85024501410169	0.62
18	3011713	T	G	18	3011715	y	y	intronic	LPIN2	.	.	intronic	ENSG00000101577	.	.	0.99899111521153	0.64
18	3011714	A	C	18	3011716	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577	.	.	0.999968624618023	0.75
18	3011714	A	G	18	3011716	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577	.	.	0.964342044422216	0.51
18	3011714	A	T	18	3011716	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577	.	.	0.999968624618023	0.754
18	3011715	C	A	18	3011717	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577	.	.	0.999952515312933	0.616
18	3011715	C	G	18	3011717	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577	.	.	0.999952515312933	0.616
18	3011715	C	T	18	3011717	y	y	splicing	LPIN2	.	.	splicing	ENSG00000101577	.	.	0.999952515312933	0.63
18	3011716	C	A	18	3011718	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	0.999123325131701	0.882
18	3011716	C	G	18	3011718	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	0.998607436048501	0.68
18	3011716	C	T	18	3011718	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	0.999728132326167	0.942
18	3011717	A	C	18	3011719	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	2.61015051912296E-4	0.016
18	3011717	A	G	18	3011719	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	1.59052740225087E-4	0.018
18	3011717	A	T	18	3011719	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	2.93140625716835E-4	0.218
18	3011718	C	A	18	3011720	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	9.44992461855547E-4	0.106
18	3011718	C	G	18	3011720	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	6.23964376305732E-4	0.002
18	3011718	C	T	18	3011720	y	y	UTR5	LPIN2	.	.	UTR5	ENSG00000101577	.	.	6.20230882529623E-4	0.002
18	3013077	C	A	18	3013079	n	y	intergenic	LPIN2(dist=1132);MYOM1(dist=53728)	.	.	intronic	ENSG00000101577	.	.	6.67864951622834E-4	0.002
18	3013077	C	G	18	3013079	n	y	intergenic	LPIN2(dist=1132);MYOM1(dist=53728)	.	.	intronic	ENSG00000101577	.	.	6.67864951622834E-4	0.002
18	3013077	C	T	18	3013079	n	y	intergenic	LPIN2(dist=1132);MYOM1(dist=53728)	.	.	intronic	ENSG00000101577	.	.	6.67864951622834E-4	0.002
18	3013078	C	A	18	3013080	n	y	intergenic	LPIN2(dist=1133);MYOM1(dist=53727)	.	.	intronic	ENSG00000101577	.	.	6.67864951622834E-4	0.002
18	3013078	C	G	18	3013080	n	y	intergenic	LPIN2(dist=1133);MYOM1(dist=53727)	.	.	intronic	ENSG00000101577	.	.	6.67864951622834E-4	0.002
18	3013078	C	T	18	3013080	n	y	intergenic	LPIN2(dist=1133);MYOM1(dist=53727)	.	.	intronic	ENSG00000101577	.	.	9.59636133280018E-4	0.002
18	3013079	A	C	18	3013081	n	y	intergenic	LPIN2(dist=1134);MYOM1(dist=53726)	.	.	intronic	ENSG00000101577	.	.	2.93008933363103E-5	0.0
18	3013079	A	G	18	3013081	n	y	intergenic	LPIN2(dist=1134);MYOM1(dist=53726)	.	.	intronic	ENSG00000101577	.	.	2.93008933363103E-5	0.0
18	3013079	A	T	18	3013081	n	y	intergenic	LPIN2(dist=1134);MYOM1(dist=53726)	.	.	intronic	ENSG00000101577	.	.	2.93008933363103E-5	0.0
18	3013080	C	A	18	3013082	n	y	intergenic	LPIN2(dist=1135);MYOM1(dist=53725)	.	.	intronic	ENSG00000101577	.	.	0.00110797651291257	0.0
18	3013080	C	G	18	3013082	n	y	intergenic	LPIN2(dist=1135);MYOM1(dist=53725)	.	.	intronic	ENSG00000101577	.	.	6.67864951622834E-4	0.0
18	3013080	C	T	18	3013082	n	y	intergenic	LPIN2(dist=1135);MYOM1(dist=53725)	.	.	intronic	ENSG00000101577	.	.	0.00110797651291257	0.0
18	3013081	T	A	18	3013083	n	y	intergenic	LPIN2(dist=1136);MYOM1(dist=53724)	.	.	intronic	ENSG00000101577	.	.	4.30416312678028E-5	0.002
18	3013081	T	C	18	3013083	n	y	intergenic	LPIN2(dist=1136);MYOM1(dist=53724)	.	.	intronic	ENSG00000101577	.	.	4.30416312678028E-5	0.002
18	3013081	T	G	18	3013083	n	y	intergenic	LPIN2(dist=1136);MYOM1(dist=53724)	.	.	intronic	ENSG00000101577	.	.	4.30416312678028E-5	0.002
18	3013082	T	A	18	3013084	n	y	intergenic	LPIN2(dist=1137);MYOM1(dist=53723)	.	.	intronic	ENSG00000101577	.	.	4.33019643212499E-5	0.002
18	3013082	T	C	18	3013084	n	y	intergenic	LPIN2(dist=1137);MYOM1(dist=53723)	.	.	intronic	ENSG00000101577	.	.	7.87029440284394E-5	0.002
18	3013082	T	G	18	3013084	n	y	intergenic	LPIN2(dist=1137);MYOM1(dist=53723)	.	.	intronic	ENSG00000101577	.	.	4.33019643212499E-5	0.002
18	3013083	A	C	18	3013085	n	y	intergenic	LPIN2(dist=1138);MYOM1(dist=53722)	.	.	splicing	ENSG00000101577	.	.	2.07546269316065E-5	0.002
18	3013083	A	G	18	3013085	n	y	intergenic	LPIN2(dist=1138);MYOM1(dist=53722)	.	.	splicing	ENSG00000101577	.	.	2.07546269316065E-5	0.002
18	3013083	A	T	18	3013085	n	y	intergenic	LPIN2(dist=1138);MYOM1(dist=53722)	.	.	splicing	ENSG00000101577	.	.	4.30416312678028E-5	0.002
18	3013084	C	A	18	3013086	n	y	intergenic	LPIN2(dist=1139);MYOM1(dist=53721)	.	.	splicing	ENSG00000101577	.	.	3.76020749564062E-5	0.0
18	3013084	C	G	18	3013086	n	y	intergenic	LPIN2(dist=1139);MYOM1(dist=53721)	.	.	splicing	ENSG00000101577	.	.	3.76020749564062E-5	0.0
18	3013084	C	T	18	3013086	n	y	intergenic	LPIN2(dist=1139);MYOM1(dist=53721)	.	.	splicing	ENSG00000101577	.	.	3.76020749564062E-5	0.0
18	3013085	C	A	18	3013087	n	y	intergenic	LPIN2(dist=1140);MYOM1(dist=53720)	.	.	UTR5	ENSG00000101577	.	.	0.00199590941298324	0.002
18	3013085	C	G	18	3013087	n	y	intergenic	LPIN2(dist=1140);MYOM1(dist=53720)	.	.	UTR5	ENSG00000101577	.	.	0.00199590941298324	0.004
18	3013085	C	T	18	3013087	n	y	intergenic	LPIN2(dist=1140);MYOM1(dist=53720)	.	.	UTR5	ENSG00000101577	.	.	0.00236544145345248	0.006
18	3013086	C	A	18	3013088	n	y	intergenic	LPIN2(dist=1141);MYOM1(dist=53719)	.	.	UTR5	ENSG00000101577	.	.	8.18429645671592E-5	0.0
18	3013086	C	G	18	3013088	n	y	intergenic	LPIN2(dist=1141);MYOM1(dist=53719)	.	.	UTR5	ENSG00000101577	.	.	8.18429645671592E-5	0.0
18	3013086	C	T	18	3013088	n	y	intergenic	LPIN2(dist=1141);MYOM1(dist=53719)	.	.	UTR5	ENSG00000101577	.	.	8.18429645671592E-5	0.0
18	3013087	A	C	18	3013089	n	y	intergenic	LPIN2(dist=1142);MYOM1(dist=53718)	.	.	UTR5	ENSG00000101577	.	.	5.69439264402225E-5	0.0
18	3013087	A	G	18	3013089	n	y	intergenic	LPIN2(dist=1142);MYOM1(dist=53718)	.	.	UTR5	ENSG00000101577	.	.	5.69439264402225E-5	0.0
18	3013087	A	T	18	3013089	n	y	intergenic	LPIN2(dist=1142);MYOM1(dist=53718)	.	.	UTR5	ENSG00000101577	.	.	8.18429645671592E-5	0.0
18	3067552	G	A	18	3067554	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon37:c.C4478T:p.A1493V;MYOM1:NM_003803:exon38:c.C4766T:p.A1589V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon38:c.C4766T:p.A1589V;ENSG00000101605:ENST00000400569:exon38:c.C4766T:p.A1589V;ENSG00000101605:ENST00000261606:exon37:c.C4478T:p.A1493V;	0.98628329272932	0.842
18	3067552	G	C	18	3067554	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon37:c.C4478G:p.A1493G;MYOM1:NM_003803:exon38:c.C4766G:p.A1589G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon38:c.C4766G:p.A1589G;ENSG00000101605:ENST00000400569:exon38:c.C4766G:p.A1589G;ENSG00000101605:ENST00000261606:exon37:c.C4478G:p.A1493G;	0.982035446610515	0.858
18	3067552	G	T	18	3067554	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon37:c.C4478A:p.A1493D;MYOM1:NM_003803:exon38:c.C4766A:p.A1589D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon38:c.C4766A:p.A1589D;ENSG00000101605:ENST00000400569:exon38:c.C4766A:p.A1589D;ENSG00000101605:ENST00000261606:exon37:c.C4478A:p.A1493D;	0.991799977524361	0.744
18	3067553	C	A	18	3067555	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon37:c.G4477T:p.A1493S;MYOM1:NM_003803:exon38:c.G4765T:p.A1589S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon38:c.G4765T:p.A1589S;ENSG00000101605:ENST00000400569:exon38:c.G4765T:p.A1589S;ENSG00000101605:ENST00000261606:exon37:c.G4477T:p.A1493S;	0.145351039017829	0.458
18	3067553	C	G	18	3067555	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon37:c.G4477C:p.A1493P;MYOM1:NM_003803:exon38:c.G4765C:p.A1589P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon38:c.G4765C:p.A1589P;ENSG00000101605:ENST00000400569:exon38:c.G4765C:p.A1589P;ENSG00000101605:ENST00000261606:exon37:c.G4477C:p.A1493P;	0.751274696221155	0.734
18	3067553	C	T	18	3067555	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon37:c.G4477A:p.A1493T;MYOM1:NM_003803:exon38:c.G4765A:p.A1589T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon38:c.G4765A:p.A1589T;ENSG00000101605:ENST00000400569:exon38:c.G4765A:p.A1589T;ENSG00000101605:ENST00000261606:exon37:c.G4477A:p.A1493T;	9.12641908663096E-4	0.254
18	3067554	C	A	18	3067556	y	y	splicing	MYOM1(NM_019856:exon38:c.4477-1G>T;NM_003803:exon39:c.4765-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon39:c.4765-1G>T;ENST00000356443:exon39:c.4765-1G>T;ENST00000261606:exon38:c.4477-1G>T)	.	.	0.999989125585301	0.944
18	3067554	C	G	18	3067556	y	y	splicing	MYOM1(NM_019856:exon38:c.4477-1G>C;NM_003803:exon39:c.4765-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon39:c.4765-1G>C;ENST00000356443:exon39:c.4765-1G>C;ENST00000261606:exon38:c.4477-1G>C)	.	.	0.999989125585301	0.944
18	3067554	C	T	18	3067556	y	y	splicing	MYOM1(NM_019856:exon38:c.4477-1G>A;NM_003803:exon39:c.4765-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon39:c.4765-1G>A;ENST00000356443:exon39:c.4765-1G>A;ENST00000261606:exon38:c.4477-1G>A)	.	.	0.999989125585301	0.944
18	3067555	T	A	18	3067557	y	y	splicing	MYOM1(NM_019856:exon38:c.4477-2A>T;NM_003803:exon39:c.4765-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon39:c.4765-2A>T;ENST00000356443:exon39:c.4765-2A>T;ENST00000261606:exon38:c.4477-2A>T)	.	.	0.999986741007567	0.942
18	3067555	T	C	18	3067557	y	y	splicing	MYOM1(NM_019856:exon38:c.4477-2A>G;NM_003803:exon39:c.4765-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon39:c.4765-2A>G;ENST00000356443:exon39:c.4765-2A>G;ENST00000261606:exon38:c.4477-2A>G)	.	.	0.999976254090479	0.94
18	3067555	T	G	18	3067557	y	y	splicing	MYOM1(NM_019856:exon38:c.4477-2A>C;NM_003803:exon39:c.4765-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon39:c.4765-2A>C;ENST00000356443:exon39:c.4765-2A>C;ENST00000261606:exon38:c.4477-2A>C)	.	.	0.999976254090479	0.94
18	3067556	G	A	18	3067558	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0411842439458738	0.134
18	3067556	G	C	18	3067558	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999586805657009	0.724
18	3067556	G	T	18	3067558	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998876012774991	0.844
18	3067557	C	A	18	3067559	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.27791280425651E-5	0.002
18	3067557	C	G	18	3067559	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.41335866438206E-5	0.02
18	3067557	C	T	18	3067559	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.37082692885605E-5	0.002
18	3067558	A	C	18	3067560	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.487186523900794	0.384
18	3067558	A	G	18	3067560	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.16616670781216E-4	0.092
18	3067558	A	T	18	3067560	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998488442702593	0.906
18	3067559	A	C	18	3067561	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.302680965893334	0.576
18	3067559	A	G	18	3067561	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.00742912235228E-5	0.02
18	3067559	A	T	18	3067561	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.308862651200402	0.556
18	3067560	G	A	18	3067562	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.36623143725036E-5	0.002
18	3067560	G	C	18	3067562	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.83488790535565E-4	0.074
18	3067560	G	T	18	3067562	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.70502574795485E-4	0.104
18	3067561	A	C	18	3067563	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.102898548906647	0.428
18	3067561	A	G	18	3067563	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.08080447892716E-5	0.028
18	3067561	A	T	18	3067563	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.408706849526214	0.464
18	3067562	C	A	18	3067564	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.29486386475462E-5	0.032
18	3067562	C	G	18	3067564	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.13367026282157E-5	0.008
18	3067562	C	T	18	3067564	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.12929660241496E-4	0.164
18	3067563	A	C	18	3067565	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.306470584383984	0.51
18	3067563	A	G	18	3067565	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.66163995005386E-4	0.034
18	3067563	A	T	18	3067565	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999904434709161	0.97
18	3067564	G	A	18	3067566	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.56135128645562E-5	0.0
18	3067564	G	C	18	3067566	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00112507884645521	0.014
18	3067564	G	T	18	3067566	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.74027618472573E-4	0.02
18	3067565	G	A	18	3067567	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.76317848458172E-4	0.006
18	3067565	G	C	18	3067567	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99968725555291	0.986
18	3067565	G	T	18	3067567	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00122570818874285	0.078
18	3071824	A	C	18	3071826	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.35428655471156E-5	0.0
18	3071824	A	G	18	3071826	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.07014835428848E-5	0.004
18	3071824	A	T	18	3071826	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.35428655471156E-5	0.0
18	3071825	T	A	18	3071827	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.77457243820827E-5	0.0
18	3071825	T	C	18	3071827	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.77457243820827E-5	0.0
18	3071825	T	G	18	3071827	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.19332324971095E-5	0.0
18	3071826	G	A	18	3071828	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.91916791886522E-5	0.006
18	3071826	G	C	18	3071828	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.28673195764257E-4	0.06
18	3071826	G	T	18	3071828	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.28453578889415E-5	0.006
18	3071827	C	A	18	3071829	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.946038503273989	0.54
18	3071827	C	G	18	3071829	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.686094273660272	0.468
18	3071827	C	T	18	3071829	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.653320964317731	0.464
18	3071828	T	A	18	3071830	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.572488733390554	0.476
18	3071828	T	C	18	3071830	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.171509705792535	0.416
18	3071828	T	G	18	3071830	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.161310439697865	0.446
18	3071829	T	A	18	3071831	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.97166034056284	0.654
18	3071829	T	C	18	3071831	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0037247560802224	0.086
18	3071829	T	G	18	3071831	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.911684275094971	0.66
18	3071830	A	C	18	3071832	y	y	splicing	MYOM1(NM_019856:exon37:c.4476+2T>G;NM_003803:exon38:c.4764+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4764+2T>G;ENST00000356443:exon38:c.4764+2T>G;ENST00000261606:exon37:c.4476+2T>G)	.	.	0.99994568797423	0.944
18	3071830	A	G	18	3071832	y	y	splicing	MYOM1(NM_019856:exon37:c.4476+2T>C;NM_003803:exon38:c.4764+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4764+2T>C;ENST00000356443:exon38:c.4764+2T>C;ENST00000261606:exon37:c.4476+2T>C)	.	.	0.943273932537554	0.644
18	3071830	A	T	18	3071832	y	y	splicing	MYOM1(NM_019856:exon37:c.4476+2T>A;NM_003803:exon38:c.4764+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4764+2T>A;ENST00000356443:exon38:c.4764+2T>A;ENST00000261606:exon37:c.4476+2T>A)	.	.	0.99994568797423	0.938
18	3071831	C	A	18	3071833	y	y	splicing	MYOM1(NM_019856:exon37:c.4476+1G>T;NM_003803:exon38:c.4764+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4764+1G>T;ENST00000356443:exon38:c.4764+1G>T;ENST00000261606:exon37:c.4476+1G>T)	.	.	0.999966737406901	0.93
18	3071831	C	G	18	3071833	y	y	splicing	MYOM1(NM_019856:exon37:c.4476+1G>C;NM_003803:exon38:c.4764+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4764+1G>C;ENST00000356443:exon38:c.4764+1G>C;ENST00000261606:exon37:c.4476+1G>C)	.	.	0.999938422912956	0.93
18	3071831	C	T	18	3071833	y	y	splicing	MYOM1(NM_019856:exon37:c.4476+1G>A;NM_003803:exon38:c.4764+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4764+1G>A;ENST00000356443:exon38:c.4764+1G>A;ENST00000261606:exon37:c.4476+1G>A)	.	.	0.999976137096505	0.93
18	3071832	C	A	18	3071834	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.G4476T:p.K1492N;MYOM1:NM_003803:exon37:c.G4764T:p.K1588N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.G4764T:p.K1588N;ENSG00000101605:ENST00000400569:exon37:c.G4764T:p.K1588N;ENSG00000101605:ENST00000261606:exon36:c.G4476T:p.K1492N;	0.999882286534111	0.99
18	3071832	C	G	18	3071834	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.G4476C:p.K1492N;MYOM1:NM_003803:exon37:c.G4764C:p.K1588N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.G4764C:p.K1588N;ENSG00000101605:ENST00000400569:exon37:c.G4764C:p.K1588N;ENSG00000101605:ENST00000261606:exon36:c.G4476C:p.K1492N;	0.999919885636669	0.978
18	3071832	C	T	18	3071834	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon36:c.G4476A:p.K1492K;MYOM1:NM_003803:exon37:c.G4764A:p.K1588K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.G4764A:p.K1588K;ENSG00000101605:ENST00000400569:exon37:c.G4764A:p.K1588K;ENSG00000101605:ENST00000261606:exon36:c.G4476A:p.K1492K;	0.834541840348079	0.678
18	3071833	T	A	18	3071835	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.A4475T:p.K1492M;MYOM1:NM_003803:exon37:c.A4763T:p.K1588M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.A4763T:p.K1588M;ENSG00000101605:ENST00000400569:exon37:c.A4763T:p.K1588M;ENSG00000101605:ENST00000261606:exon36:c.A4475T:p.K1492M;	0.99810547873927	0.852
18	3071833	T	C	18	3071835	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.A4475G:p.K1492R;MYOM1:NM_003803:exon37:c.A4763G:p.K1588R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.A4763G:p.K1588R;ENSG00000101605:ENST00000400569:exon37:c.A4763G:p.K1588R;ENSG00000101605:ENST00000261606:exon36:c.A4475G:p.K1492R;	0.999329520700694	0.96
18	3071833	T	G	18	3071835	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.A4475C:p.K1492T;MYOM1:NM_003803:exon37:c.A4763C:p.K1588T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.A4763C:p.K1588T;ENSG00000101605:ENST00000400569:exon37:c.A4763C:p.K1588T;ENSG00000101605:ENST00000261606:exon36:c.A4475C:p.K1492T;	0.991874291292659	0.93
18	3071834	T	A	18	3071836	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon36:c.A4474T:p.K1492X;MYOM1:NM_003803:exon37:c.A4762T:p.K1588X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon37:c.A4762T:p.K1588X;ENSG00000101605:ENST00000400569:exon37:c.A4762T:p.K1588X;ENSG00000101605:ENST00000261606:exon36:c.A4474T:p.K1492X;	0.912565116688246	0.632
18	3071834	T	C	18	3071836	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.A4474G:p.K1492E;MYOM1:NM_003803:exon37:c.A4762G:p.K1588E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.A4762G:p.K1588E;ENSG00000101605:ENST00000400569:exon37:c.A4762G:p.K1588E;ENSG00000101605:ENST00000261606:exon36:c.A4474G:p.K1492E;	0.164752830138094	0.366
18	3071834	T	G	18	3071836	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.A4474C:p.K1492Q;MYOM1:NM_003803:exon37:c.A4762C:p.K1588Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.A4762C:p.K1588Q;ENSG00000101605:ENST00000400569:exon37:c.A4762C:p.K1588Q;ENSG00000101605:ENST00000261606:exon36:c.A4474C:p.K1492Q;	0.672440632122444	0.51
18	3071886	A	C	18	3071888	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.T4422G:p.N1474K;MYOM1:NM_003803:exon37:c.T4710G:p.N1570K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.T4710G:p.N1570K;ENSG00000101605:ENST00000400569:exon37:c.T4710G:p.D1570E;ENSG00000101605:ENST00000261606:exon36:c.T4422G:p.N1474K;	0.0268798506836963	0.206
18	3071886	A	G	18	3071888	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon36:c.T4422C:p.N1474N;MYOM1:NM_003803:exon37:c.T4710C:p.N1570N;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.T4710C:p.N1570N;ENSG00000101605:ENST00000400569:exon37:c.T4710C:p.D1570D;ENSG00000101605:ENST00000261606:exon36:c.T4422C:p.N1474N;	8.70234623469433E-4	0.084
18	3071886	A	T	18	3071888	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.T4422A:p.N1474K;MYOM1:NM_003803:exon37:c.T4710A:p.N1570K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.T4710A:p.N1570K;ENSG00000101605:ENST00000400569:exon37:c.T4710A:p.D1570E;ENSG00000101605:ENST00000261606:exon36:c.T4422A:p.N1474K;	0.0110081737932548	0.148
18	3071887	T	A	18	3071889	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.A4421T:p.N1474I;MYOM1:NM_003803:exon37:c.A4709T:p.N1570I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.A4709T:p.N1570I;ENSG00000101605:ENST00000400569:exon37:c.A4709T:p.D1570V;ENSG00000101605:ENST00000261606:exon36:c.A4421T:p.N1474I;	0.607589076056238	0.44
18	3071887	T	C	18	3071889	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.A4421G:p.N1474S;MYOM1:NM_003803:exon37:c.A4709G:p.N1570S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.A4709G:p.N1570S;ENSG00000101605:ENST00000400569:exon37:c.A4709G:p.D1570G;ENSG00000101605:ENST00000261606:exon36:c.A4421G:p.N1474S;	0.00105830140773121	0.01
18	3071887	T	G	18	3071889	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon36:c.A4421C:p.N1474T;MYOM1:NM_003803:exon37:c.A4709C:p.N1570T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon37:c.A4709C:p.N1570T;ENSG00000101605:ENST00000400569:exon37:c.A4709C:p.D1570A;ENSG00000101605:ENST00000261606:exon36:c.A4421C:p.N1474T;	0.625041549756927	0.496
18	3071888	C	A	18	3071890	y	y	splicing	MYOM1(NM_019856:exon37:c.4421-1G>T;NM_003803:exon38:c.4709-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4709-1G>T;ENST00000356443:exon38:c.4709-1G>T;ENST00000261606:exon37:c.4421-1G>T)	.	.	0.999938422912956	0.93
18	3071888	C	G	18	3071890	y	y	splicing	MYOM1(NM_019856:exon37:c.4421-1G>C;NM_003803:exon38:c.4709-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4709-1G>C;ENST00000356443:exon38:c.4709-1G>C;ENST00000261606:exon37:c.4421-1G>C)	.	.	0.999938422912956	0.93
18	3071888	C	T	18	3071890	y	y	splicing	MYOM1(NM_019856:exon37:c.4421-1G>A;NM_003803:exon38:c.4709-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4709-1G>A;ENST00000356443:exon38:c.4709-1G>A;ENST00000261606:exon37:c.4421-1G>A)	.	.	0.999938422912956	0.922
18	3071889	T	A	18	3071891	y	y	splicing	MYOM1(NM_019856:exon37:c.4421-2A>T;NM_003803:exon38:c.4709-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4709-2A>T;ENST00000356443:exon38:c.4709-2A>T;ENST00000261606:exon37:c.4421-2A>T)	.	.	0.99994568797423	0.932
18	3071889	T	C	18	3071891	y	y	splicing	MYOM1(NM_019856:exon37:c.4421-2A>G;NM_003803:exon38:c.4709-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4709-2A>G;ENST00000356443:exon38:c.4709-2A>G;ENST00000261606:exon37:c.4421-2A>G)	.	.	0.999946188727699	0.932
18	3071889	T	G	18	3071891	y	y	splicing	MYOM1(NM_019856:exon37:c.4421-2A>C;NM_003803:exon38:c.4709-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon38:c.4709-2A>C;ENST00000356443:exon38:c.4709-2A>C;ENST00000261606:exon37:c.4421-2A>C)	.	.	0.999946188727699	0.932
18	3071890	G	A	18	3071892	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.127169005731032	0.35
18	3071890	G	C	18	3071892	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999563311574746	0.896
18	3071890	G	T	18	3071892	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998687263945395	0.924
18	3071891	C	A	18	3071893	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.17246496461593E-5	0.0
18	3071891	C	G	18	3071893	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.89223374414677E-5	0.008
18	3071891	C	T	18	3071893	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.65407515360357E-5	0.002
18	3071892	A	C	18	3071894	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.882800867861891	0.56
18	3071892	A	G	18	3071894	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00923841945026945	0.12
18	3071892	A	T	18	3071894	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999945632173865	0.956
18	3071893	A	C	18	3071895	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.625932938181702	0.5
18	3071893	A	G	18	3071895	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.01371659137092E-4	0.072
18	3071893	A	T	18	3071895	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.75990938935578	0.534
18	3071894	G	A	18	3071896	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.83440345262377E-5	0.0
18	3071894	G	C	18	3071896	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.76087302669763E-4	0.15
18	3071894	G	T	18	3071896	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00327216927614012	0.158
18	3071895	C	A	18	3071897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.95976526169836E-5	0.0
18	3071895	C	G	18	3071897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.93739097278576E-5	0.002
18	3071895	C	T	18	3071897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.82968546469652E-5	0.03
18	3071896	A	C	18	3071898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999953541883943	0.978
18	3071896	A	G	18	3071898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00202731630013514	0.11
18	3071896	A	T	18	3071898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999960810957156	0.97
18	3071897	T	A	18	3071899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.29247962333227E-5	0.004
18	3071897	T	C	18	3071899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.54811680759471E-5	0.0
18	3071897	T	G	18	3071899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.29247962333227E-5	0.008
18	3071898	A	C	18	3071900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.710816231037604	0.582
18	3071898	A	G	18	3071900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00262400007758244	0.176
18	3071898	A	T	18	3071900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.73638033717849	0.576
18	3071899	G	A	18	3071901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.7439659638959E-5	0.018
18	3071899	G	C	18	3071901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00242221397442232	0.096
18	3071899	G	T	18	3071901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00208265164358876	0.064
18	3075444	T	A	18	3075446	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.47348756796826E-5	0.0
18	3075444	T	C	18	3075446	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.47348756796826E-5	0.0
18	3075444	T	G	18	3075446	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.47348756796826E-5	0.0
18	3075445	T	A	18	3075447	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00132413094150327	0.02
18	3075445	T	C	18	3075447	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.14124816128561E-4	0.022
18	3075445	T	G	18	3075447	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.14124816128561E-4	0.022
18	3075446	A	C	18	3075448	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.180716434559264	0.462
18	3075446	A	G	18	3075448	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.508029790498842	0.47
18	3075446	A	T	18	3075448	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.501552800053173	0.458
18	3075447	C	A	18	3075449	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999687532759441	0.882
18	3075447	C	G	18	3075449	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998740342484277	0.83
18	3075447	C	T	18	3075449	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998562264088819	0.92
18	3075448	T	A	18	3075450	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.95190268756626	0.682
18	3075448	T	C	18	3075450	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.954757977695249	0.762
18	3075448	T	G	18	3075450	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.919775136101319	0.62
18	3075449	T	A	18	3075451	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.292704899155461	0.318
18	3075449	T	C	18	3075451	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.85123691482021E-4	0.004
18	3075449	T	G	18	3075451	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.962562023331922	0.398
18	3075450	A	C	18	3075452	y	y	splicing	MYOM1(NM_019856:exon36:c.4420+2T>G;NM_003803:exon37:c.4708+2T>G)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4708+2T>G;ENST00000261606:exon36:c.4420+2T>G)	.	.	0.99994568797423	0.93
18	3075450	A	G	18	3075452	y	y	splicing	MYOM1(NM_019856:exon36:c.4420+2T>C;NM_003803:exon37:c.4708+2T>C)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4708+2T>C;ENST00000261606:exon36:c.4420+2T>C)	.	.	0.984109461207006	0.668
18	3075450	A	T	18	3075452	y	y	splicing	MYOM1(NM_019856:exon36:c.4420+2T>A;NM_003803:exon37:c.4708+2T>A)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4708+2T>A;ENST00000261606:exon36:c.4420+2T>A)	.	.	0.99994568797423	0.926
18	3075451	C	A	18	3075453	y	y	splicing	MYOM1(NM_019856:exon36:c.4420+1G>T;NM_003803:exon37:c.4708+1G>T)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4708+1G>T;ENST00000261606:exon36:c.4420+1G>T)	.	.	0.999989072007339	0.928
18	3075451	C	G	18	3075453	y	y	splicing	MYOM1(NM_019856:exon36:c.4420+1G>C;NM_003803:exon37:c.4708+1G>C)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4708+1G>C;ENST00000261606:exon36:c.4420+1G>C)	.	.	0.999989072007339	0.928
18	3075451	C	T	18	3075453	y	y	splicing	MYOM1(NM_019856:exon36:c.4420+1G>A;NM_003803:exon37:c.4708+1G>A)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4708+1G>A;ENST00000261606:exon36:c.4420+1G>A)	.	.	0.999989072007339	0.916
18	3075452	T	A	18	3075454	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4420T:p.N1474Y;MYOM1:NM_003803:exon36:c.A4708T:p.N1570Y;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4708T:p.N1570Y;ENSG00000101605:ENST00000261606:exon35:c.A4420T:p.N1474Y;	0.565668222685273	0.616
18	3075452	T	C	18	3075454	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4420G:p.N1474D;MYOM1:NM_003803:exon36:c.A4708G:p.N1570D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4708G:p.N1570D;ENSG00000101605:ENST00000261606:exon35:c.A4420G:p.N1474D;	0.352607766933136	0.354
18	3075452	T	G	18	3075454	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4420C:p.N1474H;MYOM1:NM_003803:exon36:c.A4708C:p.N1570H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4708C:p.N1570H;ENSG00000101605:ENST00000261606:exon35:c.A4420C:p.N1474H;	0.283977778805871	0.688
18	3075453	T	A	18	3075455	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4419T:p.K1473N;MYOM1:NM_003803:exon36:c.A4707T:p.K1569N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4707T:p.K1569N;ENSG00000101605:ENST00000261606:exon35:c.A4419T:p.K1473N;	0.995686506680173	0.882
18	3075453	T	C	18	3075455	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon35:c.A4419G:p.K1473K;MYOM1:NM_003803:exon36:c.A4707G:p.K1569K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4707G:p.K1569K;ENSG00000101605:ENST00000261606:exon35:c.A4419G:p.K1473K;	0.763571812421321	0.624
18	3075453	T	G	18	3075455	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4419C:p.K1473N;MYOM1:NM_003803:exon36:c.A4707C:p.K1569N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4707C:p.K1569N;ENSG00000101605:ENST00000261606:exon35:c.A4419C:p.K1473N;	0.989179587572927	0.938
18	3075454	T	A	18	3075456	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4418T:p.K1473I;MYOM1:NM_003803:exon36:c.A4706T:p.K1569I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4706T:p.K1569I;ENSG00000101605:ENST00000261606:exon35:c.A4418T:p.K1473I;	0.938756490996451	0.62
18	3075454	T	C	18	3075456	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4418G:p.K1473R;MYOM1:NM_003803:exon36:c.A4706G:p.K1569R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4706G:p.K1569R;ENSG00000101605:ENST00000261606:exon35:c.A4418G:p.K1473R;	0.0124814310783131	0.106
18	3075454	T	G	18	3075456	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4418C:p.K1473T;MYOM1:NM_003803:exon36:c.A4706C:p.K1569T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4706C:p.K1569T;ENSG00000101605:ENST00000261606:exon35:c.A4418C:p.K1473T;	0.761592973668941	0.686
18	3075473	G	A	18	3075475	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon35:c.C4399T:p.Q1467X;MYOM1:NM_003803:exon36:c.C4687T:p.Q1563X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon36:c.C4687T:p.Q1563X;ENSG00000101605:ENST00000261606:exon35:c.C4399T:p.Q1467X;	0.980810213486951	0.852
18	3075473	G	C	18	3075475	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.C4399G:p.Q1467E;MYOM1:NM_003803:exon36:c.C4687G:p.Q1563E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.C4687G:p.Q1563E;ENSG00000101605:ENST00000261606:exon35:c.C4399G:p.Q1467E;	0.0074008057833725	0.094
18	3075473	G	T	18	3075475	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.C4399A:p.Q1467K;MYOM1:NM_003803:exon36:c.C4687A:p.Q1563K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.C4687A:p.Q1563K;ENSG00000101605:ENST00000261606:exon35:c.C4399A:p.Q1467K;	0.655723772013216	0.464
18	3075474	T	A	18	3075476	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4398T:p.K1466N;MYOM1:NM_003803:exon36:c.A4686T:p.K1562N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4686T:p.K1562N;ENSG00000101605:ENST00000261606:exon35:c.A4398T:p.K1466N;	0.0103185580985284	0.146
18	3075474	T	C	18	3075476	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon35:c.A4398G:p.K1466K;MYOM1:NM_003803:exon36:c.A4686G:p.K1562K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4686G:p.K1562K;ENSG00000101605:ENST00000261606:exon35:c.A4398G:p.K1466K;	3.81465601926124E-4	0.02
18	3075474	T	G	18	3075476	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon35:c.A4398C:p.K1466N;MYOM1:NM_003803:exon36:c.A4686C:p.K1562N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon36:c.A4686C:p.K1562N;ENSG00000101605:ENST00000261606:exon35:c.A4398C:p.K1466N;	0.0103185580985284	0.19
18	3075475	C	A	18	3075477	y	y	splicing	MYOM1(NM_019856:exon36:c.4398-1G>T;NM_003803:exon37:c.4686-1G>T)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4686-1G>T;ENST00000261606:exon36:c.4398-1G>T)	.	.	0.999992568075586	0.908
18	3075475	C	G	18	3075477	y	y	splicing	MYOM1(NM_019856:exon36:c.4398-1G>C;NM_003803:exon37:c.4686-1G>C)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4686-1G>C;ENST00000261606:exon36:c.4398-1G>C)	.	.	0.999992568075586	0.916
18	3075475	C	T	18	3075477	y	y	splicing	MYOM1(NM_019856:exon36:c.4398-1G>A;NM_003803:exon37:c.4686-1G>A)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4686-1G>A;ENST00000261606:exon36:c.4398-1G>A)	.	.	0.999992568075586	0.918
18	3075476	T	A	18	3075478	y	y	splicing	MYOM1(NM_019856:exon36:c.4398-2A>T;NM_003803:exon37:c.4686-2A>T)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4686-2A>T;ENST00000261606:exon36:c.4398-2A>T)	.	.	0.999984765726964	0.914
18	3075476	T	C	18	3075478	y	y	splicing	MYOM1(NM_019856:exon36:c.4398-2A>G;NM_003803:exon37:c.4686-2A>G)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4686-2A>G;ENST00000261606:exon36:c.4398-2A>G)	.	.	0.99996068814718	0.914
18	3075476	T	G	18	3075478	y	y	splicing	MYOM1(NM_019856:exon36:c.4398-2A>C;NM_003803:exon37:c.4686-2A>C)	.	.	splicing	ENSG00000101605(ENST00000356443:exon37:c.4686-2A>C;ENST00000261606:exon36:c.4398-2A>C)	.	.	0.99996068814718	0.914
18	3075477	G	A	18	3075479	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0160589422284962	0.402
18	3075477	G	C	18	3075479	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999655383812549	0.888
18	3075477	G	T	18	3075479	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.996537087452209	0.852
18	3075478	T	A	18	3075480	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.00423255791741E-4	0.016
18	3075478	T	C	18	3075480	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.73586844746234E-5	0.02
18	3075478	T	G	18	3075480	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.47390058116578E-5	0.02
18	3075479	G	A	18	3075481	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.88279720421958E-4	0.066
18	3075479	G	C	18	3075481	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0774822199605749	0.32
18	3075479	G	T	18	3075481	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0698150438586851	0.308
18	3075480	G	A	18	3075482	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.52052126947006E-4	0.016
18	3075480	G	C	18	3075482	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999676788935316	0.93
18	3075480	G	T	18	3075482	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0108214486028528	0.348
18	3075481	T	A	18	3075483	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.5250112488036E-5	0.004
18	3075481	T	C	18	3075483	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997258603280733	0.976
18	3075481	T	G	18	3075483	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.08709142326649E-4	0.004
18	3075482	T	A	18	3075484	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.06289494198974E-4	0.004
18	3075482	T	C	18	3075484	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.36730502614695E-4	0.024
18	3075482	T	G	18	3075484	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.65242120592276E-4	0.014
18	3075483	G	A	18	3075485	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.29283890051912E-4	0.044
18	3075483	G	C	18	3075485	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0547634428254281	0.332
18	3075483	G	T	18	3075485	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.106411771023495	0.32
18	3075484	A	C	18	3075486	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.697547481475838	0.51
18	3075484	A	G	18	3075486	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.13838823191773E-4	0.086
18	3075484	A	T	18	3075486	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.590236330947299	0.5
18	3075485	G	A	18	3075487	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.38539640003942E-5	0.03
18	3075485	G	C	18	3075487	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00108084708491029	0.078
18	3075485	G	T	18	3075487	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.8635425561906E-4	0.098
18	3075486	A	C	18	3075488	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.2130210447556	0.554
18	3075486	A	G	18	3075488	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.65160300376654E-4	0.05
18	3075486	A	T	18	3075488	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0697689690482043	0.522
18	3075637	T	A	18	3075639	n	y	intronic	MYOM1	.	.	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000400569:exon36:c.A4687T:p.K1563X;	0.0010410432264848	0.392
18	3075637	T	C	18	3075639	n	y	intronic	MYOM1	.	.	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000400569:exon36:c.A4687G:p.K1563E;	2.49520886589696E-4	0.012
18	3075637	T	G	18	3075639	n	y	intronic	MYOM1	.	.	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000400569:exon36:c.A4687C:p.K1563Q;	8.8091518663914E-5	0.0
18	3075638	T	A	18	3075640	n	y	intronic	MYOM1	.	.	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000400569:exon36:c.A4686T:p.K1562N;	9.53330564535898E-5	0.122
18	3075638	T	C	18	3075640	n	y	intronic	MYOM1	.	.	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000400569:exon36:c.A4686G:p.K1562K;	8.25896182624293E-5	0.0
18	3075638	T	G	18	3075640	n	y	intronic	MYOM1	.	.	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000400569:exon36:c.A4686C:p.K1562N;	2.97988310557139E-5	0.054
18	3075639	C	A	18	3075641	n	y	intronic	MYOM1	.	.	splicing	ENSG00000101605(ENST00000400569:exon37:c.4686-1G>T)	.	.	7.09213309395859E-4	0.012
18	3075639	C	G	18	3075641	n	y	intronic	MYOM1	.	.	splicing	ENSG00000101605(ENST00000400569:exon37:c.4686-1G>C)	.	.	7.09213309395859E-4	0.012
18	3075639	C	T	18	3075641	n	y	intronic	MYOM1	.	.	splicing	ENSG00000101605(ENST00000400569:exon37:c.4686-1G>A)	.	.	3.95486020593059E-4	0.012
18	3075640	T	A	18	3075642	n	y	intronic	MYOM1	.	.	splicing	ENSG00000101605(ENST00000400569:exon37:c.4686-2A>T)	.	.	4.99839321085983E-5	0.002
18	3075640	T	C	18	3075642	n	y	intronic	MYOM1	.	.	splicing	ENSG00000101605(ENST00000400569:exon37:c.4686-2A>G)	.	.	4.99839321085983E-5	0.002
18	3075640	T	G	18	3075642	n	y	intronic	MYOM1	.	.	splicing	ENSG00000101605(ENST00000400569:exon37:c.4686-2A>C)	.	.	4.99839321085983E-5	0.002
18	3075641	A	C	18	3075643	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.40940918270023E-4	0.0
18	3075641	A	G	18	3075643	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.40940918270023E-4	0.0
18	3075641	A	T	18	3075643	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.63995423123284E-4	0.0
18	3075642	A	C	18	3075644	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.86075475573093E-5	0.0
18	3075642	A	G	18	3075644	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.86075475573093E-5	0.0
18	3075642	A	T	18	3075644	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.06520082605731E-4	0.0
18	3075643	C	A	18	3075645	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.52881759733747E-5	0.0
18	3075643	C	G	18	3075645	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.00675832680685E-4	0.036
18	3075643	C	T	18	3075645	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.52881759733747E-5	0.0
18	3075644	A	C	18	3075646	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.04278140930798E-5	0.012
18	3075644	A	G	18	3075646	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.04278140930798E-5	0.012
18	3075644	A	T	18	3075646	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.04278140930798E-5	0.012
18	3075645	C	A	18	3075647	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.42477121288917E-5	0.094
18	3075645	C	G	18	3075647	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.42477121288917E-5	0.094
18	3075645	C	T	18	3075647	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.95438596086353E-4	0.09
18	3075646	T	A	18	3075648	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.48293208623238E-5	0.002
18	3075646	T	C	18	3075648	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.48293208623238E-5	0.0
18	3075646	T	G	18	3075648	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.48293208623238E-5	0.0
18	3075647	C	A	18	3075649	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.50680008137641E-5	0.0
18	3075647	C	G	18	3075649	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.6354469115538E-5	0.0
18	3075647	C	T	18	3075649	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.46544404025836E-5	0.0
18	3075648	A	C	18	3075650	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.66424010042737E-5	0.014
18	3075648	A	G	18	3075650	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.409747275093E-5	0.006
18	3075648	A	T	18	3075650	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.12780082331808E-4	0.006
18	3075649	G	A	18	3075651	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00314886044031351	0.046
18	3075649	G	C	18	3075651	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00294404891201381	0.052
18	3075649	G	T	18	3075651	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00294404891201381	0.046
18	3075650	A	C	18	3075652	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.40940918270023E-4	0.0
18	3075650	A	G	18	3075652	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.40940918270023E-4	0.0
18	3075650	A	T	18	3075652	n	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.40940918270023E-4	0.0
18	3075715	G	A	18	3075717	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.3958910195572E-5	0.0
18	3075715	G	C	18	3075717	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.27456659313109E-5	0.002
18	3075715	G	T	18	3075717	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.3958910195572E-5	0.0
18	3075716	G	A	18	3075718	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.0263171919348E-5	0.0
18	3075716	G	C	18	3075718	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.57548750424221E-5	0.0
18	3075716	G	T	18	3075718	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.57548750424221E-5	0.0
18	3075717	A	C	18	3075719	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.976287481402475	0.76
18	3075717	A	G	18	3075719	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.857428641778338	0.814
18	3075717	A	T	18	3075719	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.990372945145015	0.788
18	3075718	C	A	18	3075720	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999943599751694	0.862
18	3075718	C	G	18	3075720	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999748349610808	0.968
18	3075718	C	T	18	3075720	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999891745742732	0.882
18	3075719	T	A	18	3075721	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999460889067005	0.908
18	3075719	T	C	18	3075721	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999539037867287	0.9
18	3075719	T	G	18	3075721	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997793549466154	0.884
18	3075720	T	A	18	3075722	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999916179840959	0.956
18	3075720	T	C	18	3075722	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.989274790381768	0.678
18	3075720	T	G	18	3075722	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99995928309643	0.98
18	3075721	A	C	18	3075723	y	y	splicing	MYOM1(NM_019856:exon35:c.4397+2T>G;NM_003803:exon36:c.4685+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4685+2T>G;ENST00000356443:exon36:c.4685+2T>G;ENST00000261606:exon35:c.4397+2T>G)	.	.	0.999988247793601	0.93
18	3075721	A	G	18	3075723	y	y	splicing	MYOM1(NM_019856:exon35:c.4397+2T>C;NM_003803:exon36:c.4685+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4685+2T>C;ENST00000356443:exon36:c.4685+2T>C;ENST00000261606:exon35:c.4397+2T>C)	.	.	0.99680584692872	0.69
18	3075721	A	T	18	3075723	y	y	splicing	MYOM1(NM_019856:exon35:c.4397+2T>A;NM_003803:exon36:c.4685+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4685+2T>A;ENST00000356443:exon36:c.4685+2T>A;ENST00000261606:exon35:c.4397+2T>A)	.	.	0.999988247793601	0.93
18	3075722	C	A	18	3075724	y	y	splicing	MYOM1(NM_019856:exon35:c.4397+1G>T;NM_003803:exon36:c.4685+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4685+1G>T;ENST00000356443:exon36:c.4685+1G>T;ENST00000261606:exon35:c.4397+1G>T)	.	.	0.999990361384395	0.938
18	3075722	C	G	18	3075724	y	y	splicing	MYOM1(NM_019856:exon35:c.4397+1G>C;NM_003803:exon36:c.4685+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4685+1G>C;ENST00000356443:exon36:c.4685+1G>C;ENST00000261606:exon35:c.4397+1G>C)	.	.	0.999990361384395	0.938
18	3075722	C	T	18	3075724	y	y	splicing	MYOM1(NM_019856:exon35:c.4397+1G>A;NM_003803:exon36:c.4685+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4685+1G>A;ENST00000356443:exon36:c.4685+1G>A;ENST00000261606:exon35:c.4397+1G>A)	.	.	0.999990361384395	0.938
18	3075723	T	A	18	3075725	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.A4397T:p.K1466I;MYOM1:NM_003803:exon35:c.A4685T:p.K1562I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.A4685T:p.K1562I;ENSG00000101605:ENST00000400569:exon35:c.A4685T:p.K1562I;ENSG00000101605:ENST00000261606:exon34:c.A4397T:p.K1466I;	0.92518297080351	0.794
18	3075723	T	C	18	3075725	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.A4397G:p.K1466R;MYOM1:NM_003803:exon35:c.A4685G:p.K1562R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.A4685G:p.K1562R;ENSG00000101605:ENST00000400569:exon35:c.A4685G:p.K1562R;ENSG00000101605:ENST00000261606:exon34:c.A4397G:p.K1466R;	0.433871044623276	0.422
18	3075723	T	G	18	3075725	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.A4397C:p.K1466T;MYOM1:NM_003803:exon35:c.A4685C:p.K1562T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.A4685C:p.K1562T;ENSG00000101605:ENST00000400569:exon35:c.A4685C:p.K1562T;ENSG00000101605:ENST00000261606:exon34:c.A4397C:p.K1466T;	0.608859549526235	0.804
18	3075724	T	A	18	3075726	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon34:c.A4396T:p.K1466X;MYOM1:NM_003803:exon35:c.A4684T:p.K1562X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon35:c.A4684T:p.K1562X;ENSG00000101605:ENST00000400569:exon35:c.A4684T:p.K1562X;ENSG00000101605:ENST00000261606:exon34:c.A4396T:p.K1466X;	0.999554115539209	0.942
18	3075724	T	C	18	3075726	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.A4396G:p.K1466E;MYOM1:NM_003803:exon35:c.A4684G:p.K1562E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.A4684G:p.K1562E;ENSG00000101605:ENST00000400569:exon35:c.A4684G:p.K1562E;ENSG00000101605:ENST00000261606:exon34:c.A4396G:p.K1466E;	0.999835341623969	0.94
18	3075724	T	G	18	3075726	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.A4396C:p.K1466Q;MYOM1:NM_003803:exon35:c.A4684C:p.K1562Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.A4684C:p.K1562Q;ENSG00000101605:ENST00000400569:exon35:c.A4684C:p.K1562Q;ENSG00000101605:ENST00000261606:exon34:c.A4396C:p.K1466Q;	0.996396849688025	0.934
18	3075725	C	A	18	3075727	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.G4395T:p.L1465F;MYOM1:NM_003803:exon35:c.G4683T:p.L1561F;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.G4683T:p.L1561F;ENSG00000101605:ENST00000400569:exon35:c.G4683T:p.L1561F;ENSG00000101605:ENST00000261606:exon34:c.G4395T:p.L1465F;	4.61903879294357E-4	0.14
18	3075725	C	G	18	3075727	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.G4395C:p.L1465F;MYOM1:NM_003803:exon35:c.G4683C:p.L1561F;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.G4683C:p.L1561F;ENSG00000101605:ENST00000400569:exon35:c.G4683C:p.L1561F;ENSG00000101605:ENST00000261606:exon34:c.G4395C:p.L1465F;	1.1536705965894E-4	0.13
18	3075725	C	T	18	3075727	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon34:c.G4395A:p.L1465L;MYOM1:NM_003803:exon35:c.G4683A:p.L1561L;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.G4683A:p.L1561L;ENSG00000101605:ENST00000400569:exon35:c.G4683A:p.L1561L;ENSG00000101605:ENST00000261606:exon34:c.G4395A:p.L1465L;	1.0065462639701E-4	0.008
18	3075758	T	A	18	3075760	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon34:c.A4362T:p.A1454A;MYOM1:NM_003803:exon35:c.A4650T:p.A1550A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.A4650T:p.A1550A;ENSG00000101605:ENST00000400569:exon35:c.A4650T:p.A1550A;ENSG00000101605:ENST00000261606:exon34:c.A4362T:p.A1454A;	9.90810983280547E-6	0.0
18	3075758	T	C	18	3075760	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon34:c.A4362G:p.A1454A;MYOM1:NM_003803:exon35:c.A4650G:p.A1550A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.A4650G:p.A1550A;ENSG00000101605:ENST00000400569:exon35:c.A4650G:p.A1550A;ENSG00000101605:ENST00000261606:exon34:c.A4362G:p.A1454A;	1.28449910936942E-5	0.006
18	3075758	T	G	18	3075760	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon34:c.A4362C:p.A1454A;MYOM1:NM_003803:exon35:c.A4650C:p.A1550A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.A4650C:p.A1550A;ENSG00000101605:ENST00000400569:exon35:c.A4650C:p.A1550A;ENSG00000101605:ENST00000261606:exon34:c.A4362C:p.A1454A;	1.99893556280175E-5	0.0
18	3075759	G	A	18	3075761	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.C4361T:p.A1454V;MYOM1:NM_003803:exon35:c.C4649T:p.A1550V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.C4649T:p.A1550V;ENSG00000101605:ENST00000400569:exon35:c.C4649T:p.A1550V;ENSG00000101605:ENST00000261606:exon34:c.C4361T:p.A1454V;	0.0296095522595428	0.368
18	3075759	G	C	18	3075761	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.C4361G:p.A1454G;MYOM1:NM_003803:exon35:c.C4649G:p.A1550G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.C4649G:p.A1550G;ENSG00000101605:ENST00000400569:exon35:c.C4649G:p.A1550G;ENSG00000101605:ENST00000261606:exon34:c.C4361G:p.A1454G;	0.00201034767035706	0.07
18	3075759	G	T	18	3075761	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon34:c.C4361A:p.A1454E;MYOM1:NM_003803:exon35:c.C4649A:p.A1550E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon35:c.C4649A:p.A1550E;ENSG00000101605:ENST00000400569:exon35:c.C4649A:p.A1550E;ENSG00000101605:ENST00000261606:exon34:c.C4361A:p.A1454E;	0.00689027148655249	0.098
18	3075760	C	A	18	3075762	y	y	splicing	MYOM1(NM_019856:exon35:c.4361-1G>T;NM_003803:exon36:c.4649-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4649-1G>T;ENST00000356443:exon36:c.4649-1G>T;ENST00000261606:exon35:c.4361-1G>T;ENST00000581075:exon9:c.661-1G>T)	.	.	0.999960597114489	0.892
18	3075760	C	G	18	3075762	y	y	splicing	MYOM1(NM_019856:exon35:c.4361-1G>C;NM_003803:exon36:c.4649-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4649-1G>C;ENST00000356443:exon36:c.4649-1G>C;ENST00000261606:exon35:c.4361-1G>C;ENST00000581075:exon9:c.661-1G>C)	.	.	0.999976475802857	0.908
18	3075760	C	T	18	3075762	y	y	splicing	MYOM1(NM_019856:exon35:c.4361-1G>A;NM_003803:exon36:c.4649-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4649-1G>A;ENST00000356443:exon36:c.4649-1G>A;ENST00000261606:exon35:c.4361-1G>A;ENST00000581075:exon9:c.661-1G>A)	.	.	0.999971209564868	0.936
18	3075761	T	A	18	3075763	y	y	splicing	MYOM1(NM_019856:exon35:c.4361-2A>T;NM_003803:exon36:c.4649-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4649-2A>T;ENST00000356443:exon36:c.4649-2A>T;ENST00000261606:exon35:c.4361-2A>T;ENST00000581075:exon9:c.661-2A>T)	.	.	0.999971317418422	0.9
18	3075761	T	C	18	3075763	y	y	splicing	MYOM1(NM_019856:exon35:c.4361-2A>G;NM_003803:exon36:c.4649-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4649-2A>G;ENST00000356443:exon36:c.4649-2A>G;ENST00000261606:exon35:c.4361-2A>G;ENST00000581075:exon9:c.661-2A>G)	.	.	0.999972871252391	0.878
18	3075761	T	G	18	3075763	y	y	splicing	MYOM1(NM_019856:exon35:c.4361-2A>C;NM_003803:exon36:c.4649-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon36:c.4649-2A>C;ENST00000356443:exon36:c.4649-2A>C;ENST00000261606:exon35:c.4361-2A>C;ENST00000581075:exon9:c.661-2A>C)	.	.	0.999972871252391	0.884
18	3075762	T	A	18	3075764	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.16738266513237E-5	0.0
18	3075762	T	C	18	3075764	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0120289405349364	0.146
18	3075762	T	G	18	3075764	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.47723207382221E-5	0.01
18	3075763	T	A	18	3075765	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.61552983927814E-5	0.002
18	3075763	T	C	18	3075765	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.6170982281922E-5	0.002
18	3075763	T	G	18	3075765	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.00391013911751E-5	0.002
18	3075764	A	C	18	3075766	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0124068325438487	0.232
18	3075764	A	G	18	3075766	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.6411069340757E-4	0.012
18	3075764	A	T	18	3075766	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00513692961702126	0.174
18	3075765	A	C	18	3075767	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0567103282590929	0.342
18	3075765	A	G	18	3075767	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0021556718107777	0.152
18	3075765	A	T	18	3075767	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0535065789571675	0.346
18	3075766	A	C	18	3075768	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.39882777621324E-4	0.034
18	3075766	A	G	18	3075768	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.02076228035816E-5	0.0
18	3075766	A	T	18	3075768	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.83376517730836E-4	0.128
18	3075767	A	C	18	3075769	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.93690428879293E-4	0.028
18	3075767	A	G	18	3075769	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.37692992248644E-5	0.004
18	3075767	A	T	18	3075769	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.81172014363418E-4	0.018
18	3075768	G	A	18	3075770	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.99740258556904E-5	0.056
18	3075768	G	C	18	3075770	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.52847825844259E-4	0.104
18	3075768	G	T	18	3075770	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.25911599255586E-4	0.076
18	3075769	A	C	18	3075771	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.51214307393078E-4	0.114
18	3075769	A	G	18	3075771	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.7133655070574E-5	0.004
18	3075769	A	T	18	3075771	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.41438228784445E-4	0.108
18	3075770	A	C	18	3075772	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.66492389026124E-4	0.198
18	3075770	A	G	18	3075772	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.11549483981548E-4	0.042
18	3075770	A	T	18	3075772	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00163988037479722	0.14
18	3075771	A	C	18	3075773	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00146784004618489	0.178
18	3075771	A	G	18	3075773	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.32421853774261E-4	0.006
18	3075771	A	T	18	3075773	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00119294383187543	0.158
18	3079169	C	A	18	3079171	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.65388135286213E-5	0.022
18	3079169	C	G	18	3079171	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.21318734895995E-5	0.006
18	3079169	C	T	18	3079171	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.87394847400842E-5	0.004
18	3079170	T	A	18	3079172	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.54815088788725E-4	0.006
18	3079170	T	C	18	3079172	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.20437221291321E-5	0.002
18	3079170	T	G	18	3079172	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.06493353796791E-5	0.002
18	3079171	G	A	18	3079173	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.06194902975875E-5	0.006
18	3079171	G	C	18	3079173	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.08558844391798E-5	0.016
18	3079171	G	T	18	3079173	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.27980803806868E-5	0.008
18	3079172	T	A	18	3079174	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.13186604555737E-5	0.004
18	3079172	T	C	18	3079174	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.58237664184242E-5	0.076
18	3079172	T	G	18	3079174	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.25186704689449E-5	0.022
18	3079173	T	A	18	3079175	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.643527323394838	0.444
18	3079173	T	C	18	3079175	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.162178444152574	0.414
18	3079173	T	G	18	3079175	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.142959986957503	0.428
18	3079174	T	A	18	3079176	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998736611910383	0.926
18	3079174	T	C	18	3079176	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.73140805259587	0.596
18	3079174	T	G	18	3079176	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999386090491538	0.92
18	3079175	A	C	18	3079177	y	y	splicing	MYOM1(NM_019856:exon34:c.4360+2T>G;NM_003803:exon35:c.4648+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4648+2T>G;ENST00000356443:exon35:c.4648+2T>G;ENST00000261606:exon34:c.4360+2T>G;ENST00000581075:exon8:c.660+2T>G)	.	.	0.999988247793601	0.926
18	3079175	A	G	18	3079177	y	y	splicing	MYOM1(NM_019856:exon34:c.4360+2T>C;NM_003803:exon35:c.4648+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4648+2T>C;ENST00000356443:exon35:c.4648+2T>C;ENST00000261606:exon34:c.4360+2T>C;ENST00000581075:exon8:c.660+2T>C)	.	.	0.990738419264004	0.674
18	3079175	A	T	18	3079177	y	y	splicing	MYOM1(NM_019856:exon34:c.4360+2T>A;NM_003803:exon35:c.4648+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4648+2T>A;ENST00000356443:exon35:c.4648+2T>A;ENST00000261606:exon34:c.4360+2T>A;ENST00000581075:exon8:c.660+2T>A)	.	.	0.999988247793601	0.914
18	3079176	C	A	18	3079178	y	y	splicing	MYOM1(NM_019856:exon34:c.4360+1G>T;NM_003803:exon35:c.4648+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4648+1G>T;ENST00000356443:exon35:c.4648+1G>T;ENST00000261606:exon34:c.4360+1G>T;ENST00000581075:exon8:c.660+1G>T)	.	.	0.999989072007339	0.932
18	3079176	C	G	18	3079178	y	y	splicing	MYOM1(NM_019856:exon34:c.4360+1G>C;NM_003803:exon35:c.4648+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4648+1G>C;ENST00000356443:exon35:c.4648+1G>C;ENST00000261606:exon34:c.4360+1G>C;ENST00000581075:exon8:c.660+1G>C)	.	.	0.999989072007339	0.932
18	3079176	C	T	18	3079178	y	y	splicing	MYOM1(NM_019856:exon34:c.4360+1G>A;NM_003803:exon35:c.4648+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4648+1G>A;ENST00000356443:exon35:c.4648+1G>A;ENST00000261606:exon34:c.4360+1G>A;ENST00000581075:exon8:c.660+1G>A)	.	.	0.999989072007339	0.932
18	3079177	C	A	18	3079179	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.G4360T:p.A1454S;MYOM1:NM_003803:exon34:c.G4648T:p.A1550S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.G4648T:p.A1550S;ENSG00000101605:ENST00000400569:exon34:c.G4648T:p.A1550S;ENSG00000101605:ENST00000261606:exon33:c.G4360T:p.A1454S;	0.999992084630314	0.99
18	3079177	C	G	18	3079179	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.G4360C:p.A1454P;MYOM1:NM_003803:exon34:c.G4648C:p.A1550P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.G4648C:p.A1550P;ENSG00000101605:ENST00000400569:exon34:c.G4648C:p.A1550P;ENSG00000101605:ENST00000261606:exon33:c.G4360C:p.A1454P;	0.999997871243653	1.0
18	3079177	C	T	18	3079179	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.G4360A:p.A1454T;MYOM1:NM_003803:exon34:c.G4648A:p.A1550T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.G4648A:p.A1550T;ENSG00000101605:ENST00000400569:exon34:c.G4648A:p.A1550T;ENSG00000101605:ENST00000261606:exon33:c.G4360A:p.A1454T;	0.999993449494972	1.0
18	3079178	T	A	18	3079180	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.A4359T:p.Q1453H;MYOM1:NM_003803:exon34:c.A4647T:p.Q1549H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.A4647T:p.Q1549H;ENSG00000101605:ENST00000400569:exon34:c.A4647T:p.Q1549H;ENSG00000101605:ENST00000261606:exon33:c.A4359T:p.Q1453H;	0.99976799659405	0.992
18	3079178	T	C	18	3079180	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon33:c.A4359G:p.Q1453Q;MYOM1:NM_003803:exon34:c.A4647G:p.Q1549Q;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.A4647G:p.Q1549Q;ENSG00000101605:ENST00000400569:exon34:c.A4647G:p.Q1549Q;ENSG00000101605:ENST00000261606:exon33:c.A4359G:p.Q1453Q;	0.994743510655156	0.728
18	3079178	T	G	18	3079180	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.A4359C:p.Q1453H;MYOM1:NM_003803:exon34:c.A4647C:p.Q1549H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.A4647C:p.Q1549H;ENSG00000101605:ENST00000400569:exon34:c.A4647C:p.Q1549H;ENSG00000101605:ENST00000261606:exon33:c.A4359C:p.Q1453H;	0.999067944816464	0.952
18	3079179	T	A	18	3079181	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.A4358T:p.Q1453L;MYOM1:NM_003803:exon34:c.A4646T:p.Q1549L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.A4646T:p.Q1549L;ENSG00000101605:ENST00000400569:exon34:c.A4646T:p.Q1549L;ENSG00000101605:ENST00000261606:exon33:c.A4358T:p.Q1453L;	0.969471798485834	0.742
18	3079179	T	C	18	3079181	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.A4358G:p.Q1453R;MYOM1:NM_003803:exon34:c.A4646G:p.Q1549R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.A4646G:p.Q1549R;ENSG00000101605:ENST00000400569:exon34:c.A4646G:p.Q1549R;ENSG00000101605:ENST00000261606:exon33:c.A4358G:p.Q1453R;	0.32067451596644	0.47
18	3079179	T	G	18	3079181	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.A4358C:p.Q1453P;MYOM1:NM_003803:exon34:c.A4646C:p.Q1549P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.A4646C:p.Q1549P;ENSG00000101605:ENST00000400569:exon34:c.A4646C:p.Q1549P;ENSG00000101605:ENST00000261606:exon33:c.A4358C:p.Q1453P;	0.845919491509994	0.572
18	3079339	C	A	18	3079341	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.G4198T:p.G1400W;MYOM1:NM_003803:exon34:c.G4486T:p.G1496W;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.G4486T:p.G1496W;ENSG00000101605:ENST00000400569:exon34:c.G4486T:p.G1496W;ENSG00000101605:ENST00000261606:exon33:c.G4198T:p.G1400W;	0.80583060372437	0.62
18	3079339	C	G	18	3079341	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.G4198C:p.G1400R;MYOM1:NM_003803:exon34:c.G4486C:p.G1496R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.G4486C:p.G1496R;ENSG00000101605:ENST00000400569:exon34:c.G4486C:p.G1496R;ENSG00000101605:ENST00000261606:exon33:c.G4198C:p.G1400R;	0.00375195178259929	0.088
18	3079339	C	T	18	3079341	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.G4198A:p.G1400R;MYOM1:NM_003803:exon34:c.G4486A:p.G1496R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.G4486A:p.G1496R;ENSG00000101605:ENST00000400569:exon34:c.G4486A:p.G1496R;ENSG00000101605:ENST00000261606:exon33:c.G4198A:p.G1400R;	0.0624813812054762	0.248
18	3079340	A	C	18	3079342	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.T4197G:p.N1399K;MYOM1:NM_003803:exon34:c.T4485G:p.N1495K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.T4485G:p.N1495K;ENSG00000101605:ENST00000400569:exon34:c.T4485G:p.N1495K;ENSG00000101605:ENST00000261606:exon33:c.T4197G:p.N1399K;	1.21036045366056E-4	0.172
18	3079340	A	G	18	3079342	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon33:c.T4197C:p.N1399N;MYOM1:NM_003803:exon34:c.T4485C:p.N1495N;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.T4485C:p.N1495N;ENSG00000101605:ENST00000400569:exon34:c.T4485C:p.N1495N;ENSG00000101605:ENST00000261606:exon33:c.T4197C:p.N1399N;	1.72540861425729E-5	0.008
18	3079340	A	T	18	3079342	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon33:c.T4197A:p.N1399K;MYOM1:NM_003803:exon34:c.T4485A:p.N1495K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon34:c.T4485A:p.N1495K;ENSG00000101605:ENST00000400569:exon34:c.T4485A:p.N1495K;ENSG00000101605:ENST00000261606:exon33:c.T4197A:p.N1399K;	3.51171206193527E-5	0.006
18	3079341	C	A	18	3079343	y	y	splicing	MYOM1(NM_019856:exon34:c.4197-1G>T;NM_003803:exon35:c.4485-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4485-1G>T;ENST00000356443:exon35:c.4485-1G>T;ENST00000261606:exon34:c.4197-1G>T;ENST00000581075:exon8:c.497-1G>T)	.	.	0.999971412033808	0.876
18	3079341	C	G	18	3079343	y	y	splicing	MYOM1(NM_019856:exon34:c.4197-1G>C;NM_003803:exon35:c.4485-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4485-1G>C;ENST00000356443:exon35:c.4485-1G>C;ENST00000261606:exon34:c.4197-1G>C;ENST00000581075:exon8:c.497-1G>C)	.	.	0.999971412033808	0.868
18	3079341	C	T	18	3079343	y	y	splicing	MYOM1(NM_019856:exon34:c.4197-1G>A;NM_003803:exon35:c.4485-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4485-1G>A;ENST00000356443:exon35:c.4485-1G>A;ENST00000261606:exon34:c.4197-1G>A;ENST00000581075:exon8:c.497-1G>A)	.	.	0.999971412033808	0.872
18	3079342	T	A	18	3079344	y	y	splicing	MYOM1(NM_019856:exon34:c.4197-2A>T;NM_003803:exon35:c.4485-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4485-2A>T;ENST00000356443:exon35:c.4485-2A>T;ENST00000261606:exon34:c.4197-2A>T;ENST00000581075:exon8:c.497-2A>T)	.	.	0.999951957019574	0.914
18	3079342	T	C	18	3079344	y	y	splicing	MYOM1(NM_019856:exon34:c.4197-2A>G;NM_003803:exon35:c.4485-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4485-2A>G;ENST00000356443:exon35:c.4485-2A>G;ENST00000261606:exon34:c.4197-2A>G;ENST00000581075:exon8:c.497-2A>G)	.	.	0.999971317418422	0.894
18	3079342	T	G	18	3079344	y	y	splicing	MYOM1(NM_019856:exon34:c.4197-2A>C;NM_003803:exon35:c.4485-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon35:c.4485-2A>C;ENST00000356443:exon35:c.4485-2A>C;ENST00000261606:exon34:c.4197-2A>C;ENST00000581075:exon8:c.497-2A>C)	.	.	0.999971317418422	0.892
18	3079343	G	A	18	3079345	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0511294499583136	0.15
18	3079343	G	C	18	3079345	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999806172409881	0.828
18	3079343	G	T	18	3079345	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999566012861779	0.778
18	3079344	T	A	18	3079346	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.31728324037199E-4	0.018
18	3079344	T	C	18	3079346	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.99633631317093E-4	0.03
18	3079344	T	G	18	3079346	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.41776261353891E-4	0.022
18	3079345	G	A	18	3079347	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.35975513270086E-5	0.0
18	3079345	G	C	18	3079347	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.39903573038114E-4	0.118
18	3079345	G	T	18	3079347	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.69571387205027E-4	0.044
18	3079346	A	C	18	3079348	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0394670699190316	0.302
18	3079346	A	G	18	3079348	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.63608224486014E-5	0.014
18	3079346	A	T	18	3079348	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0359653680900512	0.278
18	3079347	A	C	18	3079349	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0100679898682738	0.084
18	3079347	A	G	18	3079349	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.12558225326584E-5	0.026
18	3079347	A	T	18	3079349	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.101677124053367	0.206
18	3079348	A	C	18	3079350	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00829554805491437	0.126
18	3079348	A	G	18	3079350	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.01977613568357E-5	0.002
18	3079348	A	T	18	3079350	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0134959153203655	0.138
18	3079349	A	C	18	3079351	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999940942503303	0.986
18	3079349	A	G	18	3079351	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.01117716031758E-4	0.07
18	3079349	A	T	18	3079351	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0445168814951737	0.18
18	3079350	T	A	18	3079352	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.37971248090931E-5	0.0
18	3079350	T	C	18	3079352	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.34130159942345E-5	0.0
18	3079350	T	G	18	3079352	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.28689226114929E-5	0.002
18	3079351	C	A	18	3079353	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.68453231670185E-5	0.0
18	3079351	C	G	18	3079353	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.89505820929157E-5	0.0
18	3079351	C	T	18	3079353	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.4521882341281E-5	0.0
18	3079352	G	A	18	3079354	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.55209304515253E-5	0.0
18	3079352	G	C	18	3079354	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.48717078142712E-4	0.062
18	3079352	G	T	18	3079354	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99770084496493	0.968
18	3083779	T	A	18	3083781	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.94092772707875E-5	0.0
18	3083779	T	C	18	3083781	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.29095927746637E-5	0.0
18	3083779	T	G	18	3083781	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.94092772707875E-5	0.0
18	3083780	T	A	18	3083782	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00201421140866667	0.002
18	3083780	T	C	18	3083782	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00201421140866667	0.01
18	3083780	T	G	18	3083782	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00201421140866667	0.006
18	3083781	A	C	18	3083783	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.975908557589666	0.786
18	3083781	A	G	18	3083783	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.965275406917109	0.788
18	3083781	A	T	18	3083783	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.995424667728022	0.778
18	3083782	C	A	18	3083784	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999229844731721	0.706
18	3083782	C	G	18	3083784	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999507788206836	0.858
18	3083782	C	T	18	3083784	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999668262482459	0.73
18	3083783	T	A	18	3083785	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.94934591392335	0.566
18	3083783	T	C	18	3083785	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.983260468210051	0.686
18	3083783	T	G	18	3083785	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.945623305132988	0.506
18	3083784	T	A	18	3083786	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997601998035273	0.836
18	3083784	T	C	18	3083786	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.935825517207551	0.482
18	3083784	T	G	18	3083786	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999700932059004	0.964
18	3083785	A	C	18	3083787	y	y	splicing	MYOM1(NM_019856:exon33:c.4196+2T>G;NM_003803:exon34:c.4484+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4484+2T>G;ENST00000356443:exon34:c.4484+2T>G;ENST00000261606:exon33:c.4196+2T>G;ENST00000581075:exon7:c.496+2T>G)	.	.	0.999988247793601	0.932
18	3083785	A	G	18	3083787	y	y	splicing	MYOM1(NM_019856:exon33:c.4196+2T>C;NM_003803:exon34:c.4484+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4484+2T>C;ENST00000356443:exon34:c.4484+2T>C;ENST00000261606:exon33:c.4196+2T>C;ENST00000581075:exon7:c.496+2T>C)	.	.	0.99340600729494	0.724
18	3083785	A	T	18	3083787	y	y	splicing	MYOM1(NM_019856:exon33:c.4196+2T>A;NM_003803:exon34:c.4484+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4484+2T>A;ENST00000356443:exon34:c.4484+2T>A;ENST00000261606:exon33:c.4196+2T>A;ENST00000581075:exon7:c.496+2T>A)	.	.	0.999988247793601	0.932
18	3083786	C	A	18	3083788	y	y	splicing	MYOM1(NM_019856:exon33:c.4196+1G>T;NM_003803:exon34:c.4484+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4484+1G>T;ENST00000356443:exon34:c.4484+1G>T;ENST00000261606:exon33:c.4196+1G>T;ENST00000581075:exon7:c.496+1G>T)	.	.	0.999990361384395	0.938
18	3083786	C	G	18	3083788	y	y	splicing	MYOM1(NM_019856:exon33:c.4196+1G>C;NM_003803:exon34:c.4484+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4484+1G>C;ENST00000356443:exon34:c.4484+1G>C;ENST00000261606:exon33:c.4196+1G>C;ENST00000581075:exon7:c.496+1G>C)	.	.	0.999990361384395	0.938
18	3083786	C	T	18	3083788	y	y	splicing	MYOM1(NM_019856:exon33:c.4196+1G>A;NM_003803:exon34:c.4484+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4484+1G>A;ENST00000356443:exon34:c.4484+1G>A;ENST00000261606:exon33:c.4196+1G>A;ENST00000581075:exon7:c.496+1G>A)	.	.	0.999990361384395	0.938
18	3083787	T	A	18	3083789	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.A4196T:p.N1399I;MYOM1:NM_003803:exon33:c.A4484T:p.N1495I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.A4484T:p.N1495I;ENSG00000101605:ENST00000400569:exon33:c.A4484T:p.N1495I;ENSG00000101605:ENST00000261606:exon32:c.A4196T:p.N1399I;	0.75625498764634	0.75
18	3083787	T	C	18	3083789	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.A4196G:p.N1399S;MYOM1:NM_003803:exon33:c.A4484G:p.N1495S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.A4484G:p.N1495S;ENSG00000101605:ENST00000400569:exon33:c.A4484G:p.N1495S;ENSG00000101605:ENST00000261606:exon32:c.A4196G:p.N1399S;	0.418725987973096	0.36
18	3083787	T	G	18	3083789	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.A4196C:p.N1399T;MYOM1:NM_003803:exon33:c.A4484C:p.N1495T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.A4484C:p.N1495T;ENSG00000101605:ENST00000400569:exon33:c.A4484C:p.N1495T;ENSG00000101605:ENST00000261606:exon32:c.A4196C:p.N1399T;	0.500787340641578	0.598
18	3083788	T	A	18	3083790	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.A4195T:p.N1399Y;MYOM1:NM_003803:exon33:c.A4483T:p.N1495Y;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.A4483T:p.N1495Y;ENSG00000101605:ENST00000400569:exon33:c.A4483T:p.N1495Y;ENSG00000101605:ENST00000261606:exon32:c.A4195T:p.N1399Y;	0.997049459801325	0.934
18	3083788	T	C	18	3083790	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.A4195G:p.N1399D;MYOM1:NM_003803:exon33:c.A4483G:p.N1495D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.A4483G:p.N1495D;ENSG00000101605:ENST00000400569:exon33:c.A4483G:p.N1495D;ENSG00000101605:ENST00000261606:exon32:c.A4195G:p.N1399D;	0.993386231108847	0.944
18	3083788	T	G	18	3083790	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.A4195C:p.N1399H;MYOM1:NM_003803:exon33:c.A4483C:p.N1495H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.A4483C:p.N1495H;ENSG00000101605:ENST00000400569:exon33:c.A4483C:p.N1495H;ENSG00000101605:ENST00000261606:exon32:c.A4195C:p.N1399H;	0.995666177985711	0.922
18	3083789	G	A	18	3083791	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon32:c.C4194T:p.H1398H;MYOM1:NM_003803:exon33:c.C4482T:p.H1494H;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.C4482T:p.H1494H;ENSG00000101605:ENST00000400569:exon33:c.C4482T:p.H1494H;ENSG00000101605:ENST00000261606:exon32:c.C4194T:p.H1398H;	0.995026238772274	0.756
18	3083789	G	C	18	3083791	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.C4194G:p.H1398Q;MYOM1:NM_003803:exon33:c.C4482G:p.H1494Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.C4482G:p.H1494Q;ENSG00000101605:ENST00000400569:exon33:c.C4482G:p.H1494Q;ENSG00000101605:ENST00000261606:exon32:c.C4194G:p.H1398Q;	0.973291201224869	0.68
18	3083789	G	T	18	3083791	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.C4194A:p.H1398Q;MYOM1:NM_003803:exon33:c.C4482A:p.H1494Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.C4482A:p.H1494Q;ENSG00000101605:ENST00000400569:exon33:c.C4482A:p.H1494Q;ENSG00000101605:ENST00000261606:exon32:c.C4194A:p.H1398Q;	0.970138450969	0.8
18	3083891	A	C	18	3083893	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon32:c.T4092G:p.A1364A;MYOM1:NM_003803:exon33:c.T4380G:p.A1460A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.T4380G:p.A1460A;ENSG00000101605:ENST00000400569:exon33:c.T4380G:p.A1460A;ENSG00000101605:ENST00000261606:exon32:c.T4092G:p.A1364A;	7.46150910711796E-5	0.126
18	3083891	A	G	18	3083893	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon32:c.T4092C:p.A1364A;MYOM1:NM_003803:exon33:c.T4380C:p.A1460A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.T4380C:p.A1460A;ENSG00000101605:ENST00000400569:exon33:c.T4380C:p.A1460A;ENSG00000101605:ENST00000261606:exon32:c.T4092C:p.A1364A;	2.14346845418651E-4	0.054
18	3083891	A	T	18	3083893	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon32:c.T4092A:p.A1364A;MYOM1:NM_003803:exon33:c.T4380A:p.A1460A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.T4380A:p.A1460A;ENSG00000101605:ENST00000400569:exon33:c.T4380A:p.A1460A;ENSG00000101605:ENST00000261606:exon32:c.T4092A:p.A1364A;	1.83331807191353E-4	0.012
18	3083892	G	A	18	3083894	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.C4091T:p.A1364V;MYOM1:NM_003803:exon33:c.C4379T:p.A1460V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.C4379T:p.A1460V;ENSG00000101605:ENST00000400569:exon33:c.C4379T:p.A1460V;ENSG00000101605:ENST00000261606:exon32:c.C4091T:p.A1364V;	0.99448425259275	0.95
18	3083892	G	C	18	3083894	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.C4091G:p.A1364G;MYOM1:NM_003803:exon33:c.C4379G:p.A1460G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.C4379G:p.A1460G;ENSG00000101605:ENST00000400569:exon33:c.C4379G:p.A1460G;ENSG00000101605:ENST00000261606:exon32:c.C4091G:p.A1364G;	0.970951733376464	0.67
18	3083892	G	T	18	3083894	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon32:c.C4091A:p.A1364D;MYOM1:NM_003803:exon33:c.C4379A:p.A1460D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon33:c.C4379A:p.A1460D;ENSG00000101605:ENST00000400569:exon33:c.C4379A:p.A1460D;ENSG00000101605:ENST00000261606:exon32:c.C4091A:p.A1364D;	0.971538625989729	0.812
18	3083893	C	A	18	3083895	y	y	splicing	MYOM1(NM_019856:exon33:c.4091-1G>T;NM_003803:exon34:c.4379-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4379-1G>T;ENST00000356443:exon34:c.4379-1G>T;ENST00000261606:exon33:c.4091-1G>T;ENST00000581075:exon7:c.391-1G>T)	.	.	0.999990361384395	0.938
18	3083893	C	G	18	3083895	y	y	splicing	MYOM1(NM_019856:exon33:c.4091-1G>C;NM_003803:exon34:c.4379-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4379-1G>C;ENST00000356443:exon34:c.4379-1G>C;ENST00000261606:exon33:c.4091-1G>C;ENST00000581075:exon7:c.391-1G>C)	.	.	0.999990361384395	0.938
18	3083893	C	T	18	3083895	y	y	splicing	MYOM1(NM_019856:exon33:c.4091-1G>A;NM_003803:exon34:c.4379-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4379-1G>A;ENST00000356443:exon34:c.4379-1G>A;ENST00000261606:exon33:c.4091-1G>A;ENST00000581075:exon7:c.391-1G>A)	.	.	0.999990361384395	0.928
18	3083894	T	A	18	3083896	y	y	splicing	MYOM1(NM_019856:exon33:c.4091-2A>T;NM_003803:exon34:c.4379-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4379-2A>T;ENST00000356443:exon34:c.4379-2A>T;ENST00000261606:exon33:c.4091-2A>T;ENST00000581075:exon7:c.391-2A>T)	.	.	0.999978952611685	0.932
18	3083894	T	C	18	3083896	y	y	splicing	MYOM1(NM_019856:exon33:c.4091-2A>G;NM_003803:exon34:c.4379-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4379-2A>G;ENST00000356443:exon34:c.4379-2A>G;ENST00000261606:exon33:c.4091-2A>G;ENST00000581075:exon7:c.391-2A>G)	.	.	0.999978952611685	0.93
18	3083894	T	G	18	3083896	y	y	splicing	MYOM1(NM_019856:exon33:c.4091-2A>C;NM_003803:exon34:c.4379-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon34:c.4379-2A>C;ENST00000356443:exon34:c.4379-2A>C;ENST00000261606:exon33:c.4091-2A>C;ENST00000581075:exon7:c.391-2A>C)	.	.	0.999978952611685	0.93
18	3083895	G	A	18	3083897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00434691556230741	0.058
18	3083895	G	C	18	3083897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999863673817109	0.946
18	3083895	G	T	18	3083897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.460228989692924	0.462
18	3083896	A	C	18	3083898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.18473308409722E-4	0.008
18	3083896	A	G	18	3083898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.90206270978552E-5	0.0
18	3083896	A	T	18	3083898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.60233190055934E-4	0.002
18	3083897	A	C	18	3083899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00412104829119386	0.156
18	3083897	A	G	18	3083899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.99192925129728E-4	0.052
18	3083897	A	T	18	3083899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00319137379044868	0.166
18	3083898	A	C	18	3083900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00104034165178625	0.064
18	3083898	A	G	18	3083900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.43892489637273E-5	0.0
18	3083898	A	T	18	3083900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.56773272950155E-4	0.074
18	3083899	G	A	18	3083901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.16019592946986E-5	0.0
18	3083899	G	C	18	3083901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00106338793701067	0.082
18	3083899	G	T	18	3083901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00164926520694684	0.18
18	3083900	A	C	18	3083902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00283496974424484	0.096
18	3083900	A	G	18	3083902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.66250115779765E-5	0.0
18	3083900	A	T	18	3083902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00120733474450921	0.108
18	3083901	A	C	18	3083903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00120570625473161	0.11
18	3083901	A	G	18	3083903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.71439695904603E-5	0.028
18	3083901	A	T	18	3083903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00150577399711302	0.102
18	3083902	G	A	18	3083904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.68936183110405E-4	0.01
18	3083902	G	C	18	3083904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00322755535233745	0.066
18	3083902	G	T	18	3083904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00598972683128485	0.146
18	3083903	A	C	18	3083905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00757761716048755	0.114
18	3083903	A	G	18	3083905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.98911473765995E-4	0.016
18	3083903	A	T	18	3083905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0209863474030005	0.204
18	3083904	A	C	18	3083906	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00336079131604727	0.2
18	3083904	A	G	18	3083906	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.96555280170667E-4	0.012
18	3083904	A	T	18	3083906	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00930159316321635	0.102
18	3083979	T	A	18	3083981	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.64905445396362E-5	0.0
18	3083979	T	C	18	3083981	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.7586829694842E-5	0.0
18	3083979	T	G	18	3083981	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.49222253318775E-5	0.0
18	3083980	G	A	18	3083982	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.3200200820218E-5	0.0
18	3083980	G	C	18	3083982	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.3200200820218E-5	0.0
18	3083980	G	T	18	3083982	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.48293208623238E-5	0.0
18	3083981	A	C	18	3083983	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.34829865154656E-4	0.192
18	3083981	A	G	18	3083983	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00420180519003299	0.314
18	3083981	A	T	18	3083983	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0176114476867881	0.23
18	3083982	C	A	18	3083984	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999628252158511	0.926
18	3083982	C	G	18	3083984	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999655963330897	0.936
18	3083982	C	T	18	3083984	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997584122636655	0.954
18	3083983	T	A	18	3083985	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.967798452264426	0.674
18	3083983	T	C	18	3083985	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.967166068174693	0.624
18	3083983	T	G	18	3083985	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.44507337980451	0.506
18	3083984	C	A	18	3083986	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0467921829696576	0.354
18	3083984	C	G	18	3083986	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0267797853634202	0.258
18	3083984	C	T	18	3083986	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.39625888424526E-5	0.0
18	3083985	A	C	18	3083987	y	y	splicing	MYOM1(NM_019856:exon32:c.4090+2T>G;NM_003803:exon33:c.4378+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4378+2T>G;ENST00000356443:exon33:c.4378+2T>G;ENST00000261606:exon32:c.4090+2T>G;ENST00000581075:exon6:c.390+2T>G)	.	.	0.999951957019574	0.898
18	3083985	A	G	18	3083987	y	y	splicing	MYOM1(NM_019856:exon32:c.4090+2T>C;NM_003803:exon33:c.4378+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4378+2T>C;ENST00000356443:exon33:c.4378+2T>C;ENST00000261606:exon32:c.4090+2T>C;ENST00000581075:exon6:c.390+2T>C)	.	.	0.999809270340036	0.81
18	3083985	A	T	18	3083987	y	y	splicing	MYOM1(NM_019856:exon32:c.4090+2T>A;NM_003803:exon33:c.4378+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4378+2T>A;ENST00000356443:exon33:c.4378+2T>A;ENST00000261606:exon32:c.4090+2T>A;ENST00000581075:exon6:c.390+2T>A)	.	.	0.999964896440643	0.938
18	3083986	C	A	18	3083988	y	y	splicing	MYOM1(NM_019856:exon32:c.4090+1G>T;NM_003803:exon33:c.4378+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4378+1G>T;ENST00000356443:exon33:c.4378+1G>T;ENST00000261606:exon32:c.4090+1G>T;ENST00000581075:exon6:c.390+1G>T)	.	.	0.999971209564868	0.938
18	3083986	C	G	18	3083988	y	y	splicing	MYOM1(NM_019856:exon32:c.4090+1G>C;NM_003803:exon33:c.4378+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4378+1G>C;ENST00000356443:exon33:c.4378+1G>C;ENST00000261606:exon32:c.4090+1G>C;ENST00000581075:exon6:c.390+1G>C)	.	.	0.999971209564868	0.936
18	3083986	C	T	18	3083988	y	y	splicing	MYOM1(NM_019856:exon32:c.4090+1G>A;NM_003803:exon33:c.4378+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4378+1G>A;ENST00000356443:exon33:c.4378+1G>A;ENST00000261606:exon32:c.4090+1G>A;ENST00000581075:exon6:c.390+1G>A)	.	.	0.999971209564868	0.938
18	3083987	C	A	18	3083989	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.G4090T:p.A1364S;MYOM1:NM_003803:exon32:c.G4378T:p.A1460S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.G4378T:p.A1460S;ENSG00000101605:ENST00000400569:exon32:c.G4378T:p.A1460S;ENSG00000101605:ENST00000261606:exon31:c.G4090T:p.A1364S;	0.999925731089412	0.984
18	3083987	C	G	18	3083989	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.G4090C:p.A1364P;MYOM1:NM_003803:exon32:c.G4378C:p.A1460P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.G4378C:p.A1460P;ENSG00000101605:ENST00000400569:exon32:c.G4378C:p.A1460P;ENSG00000101605:ENST00000261606:exon31:c.G4090C:p.A1364P;	0.999962865550439	0.96
18	3083987	C	T	18	3083989	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.G4090A:p.A1364T;MYOM1:NM_003803:exon32:c.G4378A:p.A1460T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.G4378A:p.A1460T;ENSG00000101605:ENST00000400569:exon32:c.G4378A:p.A1460T;ENSG00000101605:ENST00000261606:exon31:c.G4090A:p.A1364T;	0.999955355402252	0.992
18	3083988	T	A	18	3083990	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon31:c.A4089T:p.I1363I;MYOM1:NM_003803:exon32:c.A4377T:p.I1459I;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.A4377T:p.I1459I;ENSG00000101605:ENST00000400569:exon32:c.A4377T:p.I1459I;ENSG00000101605:ENST00000261606:exon31:c.A4089T:p.I1363I;	0.0355313403741727	0.366
18	3083988	T	C	18	3083990	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.A4089G:p.I1363M;MYOM1:NM_003803:exon32:c.A4377G:p.I1459M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.A4377G:p.I1459M;ENSG00000101605:ENST00000400569:exon32:c.A4377G:p.I1459M;ENSG00000101605:ENST00000261606:exon31:c.A4089G:p.I1363M;	0.36187473106378	0.476
18	3083988	T	G	18	3083990	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon31:c.A4089C:p.I1363I;MYOM1:NM_003803:exon32:c.A4377C:p.I1459I;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.A4377C:p.I1459I;ENSG00000101605:ENST00000400569:exon32:c.A4377C:p.I1459I;ENSG00000101605:ENST00000261606:exon31:c.A4089C:p.I1363I;	0.0158041744047162	0.432
18	3083989	A	C	18	3083991	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.T4088G:p.I1363R;MYOM1:NM_003803:exon32:c.T4376G:p.I1459R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.T4376G:p.I1459R;ENSG00000101605:ENST00000400569:exon32:c.T4376G:p.I1459R;ENSG00000101605:ENST00000261606:exon31:c.T4088G:p.I1363R;	0.748414849989052	0.7
18	3083989	A	G	18	3083991	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.T4088C:p.I1363T;MYOM1:NM_003803:exon32:c.T4376C:p.I1459T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.T4376C:p.I1459T;ENSG00000101605:ENST00000400569:exon32:c.T4376C:p.I1459T;ENSG00000101605:ENST00000261606:exon31:c.T4088C:p.I1363T;	0.652656369967121	0.67
18	3083989	A	T	18	3083991	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.T4088A:p.I1363K;MYOM1:NM_003803:exon32:c.T4376A:p.I1459K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.T4376A:p.I1459K;ENSG00000101605:ENST00000400569:exon32:c.T4376A:p.I1459K;ENSG00000101605:ENST00000261606:exon31:c.T4088A:p.I1363K;	0.74104587704664	0.712
18	3084024	G	A	18	3084026	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon31:c.C4053T:p.A1351A;MYOM1:NM_003803:exon32:c.C4341T:p.A1447A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000581075:exon5:c.C353T:p.P118L;	1.43176199616775E-4	0.014
18	3084024	G	C	18	3084026	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon31:c.C4053G:p.A1351A;MYOM1:NM_003803:exon32:c.C4341G:p.A1447A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000581075:exon5:c.C353G:p.P118R;	2.17204580477525E-4	0.02
18	3084024	G	T	18	3084026	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon31:c.C4053A:p.A1351A;MYOM1:NM_003803:exon32:c.C4341A:p.A1447A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000581075:exon5:c.C353A:p.P118H;	2.67606834428129E-4	0.014
18	3084025	G	A	18	3084027	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.C4052T:p.A1351V;MYOM1:NM_003803:exon32:c.C4340T:p.A1447V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.C4340T:p.A1447V;ENSG00000101605:ENST00000400569:exon32:c.C4340T:p.A1447V;ENSG00000101605:ENST00000261606:exon31:c.C4052T:p.A1351V;ENSG00000101605:ENST00000581075:exon5:c.C352T:p.P118S;	0.0971201071835122	0.312
18	3084025	G	C	18	3084027	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.C4052G:p.A1351G;MYOM1:NM_003803:exon32:c.C4340G:p.A1447G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.C4340G:p.A1447G;ENSG00000101605:ENST00000400569:exon32:c.C4340G:p.A1447G;ENSG00000101605:ENST00000261606:exon31:c.C4052G:p.A1351G;ENSG00000101605:ENST00000581075:exon5:c.C352G:p.P118A;	0.00267014285896444	0.17
18	3084025	G	T	18	3084027	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon31:c.C4052A:p.A1351D;MYOM1:NM_003803:exon32:c.C4340A:p.A1447D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon32:c.C4340A:p.A1447D;ENSG00000101605:ENST00000400569:exon32:c.C4340A:p.A1447D;ENSG00000101605:ENST00000261606:exon31:c.C4052A:p.A1351D;ENSG00000101605:ENST00000581075:exon5:c.C352A:p.P118T;	0.0139968537663617	0.134
18	3084026	C	A	18	3084028	y	y	splicing	MYOM1(NM_019856:exon32:c.4052-1G>T;NM_003803:exon33:c.4340-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4340-1G>T;ENST00000356443:exon33:c.4340-1G>T;ENST00000261606:exon32:c.4052-1G>T;ENST00000581075:exon6:c.352-1G>T)	.	.	0.999960597114489	0.888
18	3084026	C	G	18	3084028	y	y	splicing	MYOM1(NM_019856:exon32:c.4052-1G>C;NM_003803:exon33:c.4340-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4340-1G>C;ENST00000356443:exon33:c.4340-1G>C;ENST00000261606:exon32:c.4052-1G>C;ENST00000581075:exon6:c.352-1G>C)	.	.	0.999976475802857	0.908
18	3084026	C	T	18	3084028	y	y	splicing	MYOM1(NM_019856:exon32:c.4052-1G>A;NM_003803:exon33:c.4340-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4340-1G>A;ENST00000356443:exon33:c.4340-1G>A;ENST00000261606:exon32:c.4052-1G>A;ENST00000581075:exon6:c.352-1G>A)	.	.	0.999971209564868	0.936
18	3084027	T	A	18	3084029	y	y	splicing	MYOM1(NM_019856:exon32:c.4052-2A>T;NM_003803:exon33:c.4340-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4340-2A>T;ENST00000356443:exon33:c.4340-2A>T;ENST00000261606:exon32:c.4052-2A>T;ENST00000581075:exon6:c.352-2A>T)	.	.	0.999971317418422	0.9
18	3084027	T	C	18	3084029	y	y	splicing	MYOM1(NM_019856:exon32:c.4052-2A>G;NM_003803:exon33:c.4340-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4340-2A>G;ENST00000356443:exon33:c.4340-2A>G;ENST00000261606:exon32:c.4052-2A>G;ENST00000581075:exon6:c.352-2A>G)	.	.	0.999971317418422	0.894
18	3084027	T	G	18	3084029	y	y	splicing	MYOM1(NM_019856:exon32:c.4052-2A>C;NM_003803:exon33:c.4340-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon33:c.4340-2A>C;ENST00000356443:exon33:c.4340-2A>C;ENST00000261606:exon32:c.4052-2A>C;ENST00000581075:exon6:c.352-2A>C)	.	.	0.999971317418422	0.896
18	3084028	G	A	18	3084030	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0308294178546183	0.156
18	3084028	G	C	18	3084030	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999735488416766	0.772
18	3084028	G	T	18	3084030	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.993906303132139	0.636
18	3084029	T	A	18	3084031	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.92223484168785E-4	0.094
18	3084029	T	C	18	3084031	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.49504024256782E-4	0.1
18	3084029	T	G	18	3084031	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.475896973165E-4	0.044
18	3084030	G	A	18	3084032	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.42161907063722E-5	0.004
18	3084030	G	C	18	3084032	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00166752490116636	0.176
18	3084030	G	T	18	3084032	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.87579792141107E-4	0.074
18	3084031	G	A	18	3084033	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.6477934344035E-4	0.084
18	3084031	G	C	18	3084033	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0101414689167958	0.26
18	3084031	G	T	18	3084033	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0106145360237251	0.252
18	3084032	A	C	18	3084034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00619927658720013	0.066
18	3084032	A	G	18	3084034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.19576431230171E-5	0.0
18	3084032	A	T	18	3084034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.013454990583129	0.072
18	3084033	G	A	18	3084035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.97015627927537E-5	0.002
18	3084033	G	C	18	3084035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.10027967482314E-4	0.02
18	3084033	G	T	18	3084035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.36515406083318E-5	0.088
18	3084034	A	C	18	3084036	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00433603377309119	0.078
18	3084034	A	G	18	3084036	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00299385752203574	0.004
18	3084034	A	T	18	3084036	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00212797766807643	0.172
18	3084035	G	A	18	3084037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.81571911223228E-4	0.006
18	3084035	G	C	18	3084037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00795749590682296	0.094
18	3084035	G	T	18	3084037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00101557030343752	0.104
18	3084036	A	C	18	3084038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.197985028234856	0.528
18	3084036	A	G	18	3084038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0723892732330558	0.342
18	3084036	A	T	18	3084038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.323832636809836	0.56
18	3084037	G	A	18	3084039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.34888665060902E-4	0.002
18	3084037	G	C	18	3084039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00185968539370726	0.094
18	3084037	G	T	18	3084039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00103106417701684	0.098
18	3085035	G	A	18	3085037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.22247632015849E-4	0.022
18	3085035	G	C	18	3085037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.09007040325251E-4	0.0
18	3085035	G	T	18	3085037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.69870175602874E-4	0.0
18	3085036	G	A	18	3085038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.44525848952643E-4	0.036
18	3085036	G	C	18	3085038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.07788363099626E-4	0.006
18	3085036	G	T	18	3085038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.212301327392E-5	0.0
18	3085037	A	C	18	3085039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.118896703217999	0.39
18	3085037	A	G	18	3085039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.141006587145293	0.35
18	3085037	A	T	18	3085039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.139969022525716	0.35
18	3085038	C	A	18	3085040	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.988647129316861	0.85
18	3085038	C	G	18	3085040	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.9748507209543	0.718
18	3085038	C	T	18	3085040	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.995043389380607	0.896
18	3085039	T	A	18	3085041	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.864350047872897	0.672
18	3085039	T	C	18	3085041	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.555588692958702	0.512
18	3085039	T	G	18	3085041	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.82051401791429	0.656
18	3085040	G	A	18	3085042	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.04335200384382E-4	0.02
18	3085040	G	C	18	3085042	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.87595726029629E-5	0.018
18	3085040	G	T	18	3085042	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.36012287496447E-4	0.022
18	3085041	A	C	18	3085043	y	y	splicing	MYOM1(NM_019856:exon31:c.4051+2T>G;NM_003803:exon32:c.4339+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4339+2T>G;ENST00000356443:exon32:c.4339+2T>G;ENST00000261606:exon31:c.4051+2T>G)	.	.	0.999988247793601	0.932
18	3085041	A	G	18	3085043	y	y	splicing	MYOM1(NM_019856:exon31:c.4051+2T>C;NM_003803:exon32:c.4339+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4339+2T>C;ENST00000356443:exon32:c.4339+2T>C;ENST00000261606:exon31:c.4051+2T>C)	.	.	0.996388929962285	0.718
18	3085041	A	T	18	3085043	y	y	splicing	MYOM1(NM_019856:exon31:c.4051+2T>A;NM_003803:exon32:c.4339+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4339+2T>A;ENST00000356443:exon32:c.4339+2T>A;ENST00000261606:exon31:c.4051+2T>A)	.	.	0.999988247793601	0.932
18	3085042	C	A	18	3085044	y	y	splicing	MYOM1(NM_019856:exon31:c.4051+1G>T;NM_003803:exon32:c.4339+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4339+1G>T;ENST00000356443:exon32:c.4339+1G>T;ENST00000261606:exon31:c.4051+1G>T)	.	.	0.999990361384395	0.938
18	3085042	C	G	18	3085044	y	y	splicing	MYOM1(NM_019856:exon31:c.4051+1G>C;NM_003803:exon32:c.4339+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4339+1G>C;ENST00000356443:exon32:c.4339+1G>C;ENST00000261606:exon31:c.4051+1G>C)	.	.	0.999990361384395	0.938
18	3085042	C	T	18	3085044	y	y	splicing	MYOM1(NM_019856:exon31:c.4051+1G>A;NM_003803:exon32:c.4339+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4339+1G>A;ENST00000356443:exon32:c.4339+1G>A;ENST00000261606:exon31:c.4051+1G>A)	.	.	0.999990361384395	0.938
18	3085043	C	A	18	3085045	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.G4051T:p.A1351S;MYOM1:NM_003803:exon31:c.G4339T:p.A1447S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.G4339T:p.A1447S;ENSG00000101605:ENST00000400569:exon31:c.G4339T:p.A1447S;ENSG00000101605:ENST00000261606:exon30:c.G4051T:p.A1351S;	0.999982663723229	0.988
18	3085043	C	G	18	3085045	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.G4051C:p.A1351P;MYOM1:NM_003803:exon31:c.G4339C:p.A1447P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.G4339C:p.A1447P;ENSG00000101605:ENST00000400569:exon31:c.G4339C:p.A1447P;ENSG00000101605:ENST00000261606:exon30:c.G4051C:p.A1351P;	0.999995735644287	1.0
18	3085043	C	T	18	3085045	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.G4051A:p.A1351T;MYOM1:NM_003803:exon31:c.G4339A:p.A1447T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.G4339A:p.A1447T;ENSG00000101605:ENST00000400569:exon31:c.G4339A:p.A1447T;ENSG00000101605:ENST00000261606:exon30:c.G4051A:p.A1351T;	0.999987949721012	1.0
18	3085044	T	A	18	3085046	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.A4050T:p.E1350D;MYOM1:NM_003803:exon31:c.A4338T:p.E1446D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.A4338T:p.E1446D;ENSG00000101605:ENST00000400569:exon31:c.A4338T:p.E1446D;ENSG00000101605:ENST00000261606:exon30:c.A4050T:p.E1350D;	0.999663665528618	0.98
18	3085044	T	C	18	3085046	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon30:c.A4050G:p.E1350E;MYOM1:NM_003803:exon31:c.A4338G:p.E1446E;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.A4338G:p.E1446E;ENSG00000101605:ENST00000400569:exon31:c.A4338G:p.E1446E;ENSG00000101605:ENST00000261606:exon30:c.A4050G:p.E1350E;	0.998562668817753	0.994
18	3085044	T	G	18	3085046	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.A4050C:p.E1350D;MYOM1:NM_003803:exon31:c.A4338C:p.E1446D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.A4338C:p.E1446D;ENSG00000101605:ENST00000400569:exon31:c.A4338C:p.E1446D;ENSG00000101605:ENST00000261606:exon30:c.A4050C:p.E1350D;	0.991101909607861	0.888
18	3085045	T	A	18	3085047	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.A4049T:p.E1350V;MYOM1:NM_003803:exon31:c.A4337T:p.E1446V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.A4337T:p.E1446V;ENSG00000101605:ENST00000400569:exon31:c.A4337T:p.E1446V;ENSG00000101605:ENST00000261606:exon30:c.A4049T:p.E1350V;	0.992592392698228	0.706
18	3085045	T	C	18	3085047	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.A4049G:p.E1350G;MYOM1:NM_003803:exon31:c.A4337G:p.E1446G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.A4337G:p.E1446G;ENSG00000101605:ENST00000400569:exon31:c.A4337G:p.E1446G;ENSG00000101605:ENST00000261606:exon30:c.A4049G:p.E1350G;	0.0651796098575426	0.322
18	3085045	T	G	18	3085047	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.A4049C:p.E1350A;MYOM1:NM_003803:exon31:c.A4337C:p.E1446A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.A4337C:p.E1446A;ENSG00000101605:ENST00000400569:exon31:c.A4337C:p.E1446A;ENSG00000101605:ENST00000261606:exon30:c.A4049C:p.E1350A;	0.00646234009105552	0.136
18	3085129	A	C	18	3085131	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.T3965G:p.F1322C;MYOM1:NM_003803:exon31:c.T4253G:p.F1418C;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.T4253G:p.F1418C;ENSG00000101605:ENST00000400569:exon31:c.T4253G:p.F1418C;ENSG00000101605:ENST00000261606:exon30:c.T3965G:p.F1322C;	0.866272232168516	0.608
18	3085129	A	G	18	3085131	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.T3965C:p.F1322S;MYOM1:NM_003803:exon31:c.T4253C:p.F1418S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.T4253C:p.F1418S;ENSG00000101605:ENST00000400569:exon31:c.T4253C:p.F1418S;ENSG00000101605:ENST00000261606:exon30:c.T3965C:p.F1322S;	0.818707331400944	0.594
18	3085129	A	T	18	3085131	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.T3965A:p.F1322Y;MYOM1:NM_003803:exon31:c.T4253A:p.F1418Y;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.T4253A:p.F1418Y;ENSG00000101605:ENST00000400569:exon31:c.T4253A:p.F1418Y;ENSG00000101605:ENST00000261606:exon30:c.T3965A:p.F1322Y;	0.875223788868723	0.608
18	3085130	A	C	18	3085132	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.T3964G:p.F1322V;MYOM1:NM_003803:exon31:c.T4252G:p.F1418V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.T4252G:p.F1418V;ENSG00000101605:ENST00000400569:exon31:c.T4252G:p.F1418V;ENSG00000101605:ENST00000261606:exon30:c.T3964G:p.F1322V;	0.798959741492545	0.57
18	3085130	A	G	18	3085132	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.T3964C:p.F1322L;MYOM1:NM_003803:exon31:c.T4252C:p.F1418L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.T4252C:p.F1418L;ENSG00000101605:ENST00000400569:exon31:c.T4252C:p.F1418L;ENSG00000101605:ENST00000261606:exon30:c.T3964C:p.F1322L;	0.00298738816710223	0.066
18	3085130	A	T	18	3085132	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon30:c.T3964A:p.F1322I;MYOM1:NM_003803:exon31:c.T4252A:p.F1418I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon31:c.T4252A:p.F1418I;ENSG00000101605:ENST00000400569:exon31:c.T4252A:p.F1418I;ENSG00000101605:ENST00000261606:exon30:c.T3964A:p.F1322I;	0.00107849603275152	0.024
18	3085131	C	A	18	3085133	y	y	splicing	MYOM1(NM_019856:exon31:c.3964-1G>T;NM_003803:exon32:c.4252-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4252-1G>T;ENST00000356443:exon32:c.4252-1G>T;ENST00000261606:exon31:c.3964-1G>T)	.	.	0.999990361384395	0.936
18	3085131	C	G	18	3085133	y	y	splicing	MYOM1(NM_019856:exon31:c.3964-1G>C;NM_003803:exon32:c.4252-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4252-1G>C;ENST00000356443:exon32:c.4252-1G>C;ENST00000261606:exon31:c.3964-1G>C)	.	.	0.999990361384395	0.936
18	3085131	C	T	18	3085133	y	y	splicing	MYOM1(NM_019856:exon31:c.3964-1G>A;NM_003803:exon32:c.4252-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4252-1G>A;ENST00000356443:exon32:c.4252-1G>A;ENST00000261606:exon31:c.3964-1G>A)	.	.	0.999990361384395	0.936
18	3085132	T	A	18	3085134	y	y	splicing	MYOM1(NM_019856:exon31:c.3964-2A>T;NM_003803:exon32:c.4252-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4252-2A>T;ENST00000356443:exon32:c.4252-2A>T;ENST00000261606:exon31:c.3964-2A>T)	.	.	0.999970661931818	0.928
18	3085132	T	C	18	3085134	y	y	splicing	MYOM1(NM_019856:exon31:c.3964-2A>G;NM_003803:exon32:c.4252-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4252-2A>G;ENST00000356443:exon32:c.4252-2A>G;ENST00000261606:exon31:c.3964-2A>G)	.	.	0.99994568797423	0.922
18	3085132	T	G	18	3085134	y	y	splicing	MYOM1(NM_019856:exon31:c.3964-2A>C;NM_003803:exon32:c.4252-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon32:c.4252-2A>C;ENST00000356443:exon32:c.4252-2A>C;ENST00000261606:exon31:c.3964-2A>C)	.	.	0.99994568797423	0.93
18	3085133	A	C	18	3085135	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.994546393745714	0.716
18	3085133	A	G	18	3085135	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.10855445689638E-4	0.018
18	3085133	A	T	18	3085135	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.38572273631586	0.402
18	3085134	A	C	18	3085136	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.02968387998467E-5	0.0
18	3085134	A	G	18	3085136	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.4097798460229E-5	0.002
18	3085134	A	T	18	3085136	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.01033672502834E-5	0.002
18	3085135	G	A	18	3085137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00124126756055313	0.062
18	3085135	G	C	18	3085137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.233850792450523	0.388
18	3085135	G	T	18	3085137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.524156052214511	0.386
18	3085136	G	A	18	3085138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.46095981546582E-5	0.0
18	3085136	G	C	18	3085138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.51733537395042E-4	0.128
18	3085136	G	T	18	3085138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.07503842555109E-4	0.09
18	3085137	G	A	18	3085139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.30072696630106E-5	0.002
18	3085137	G	C	18	3085139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.011928651042018	0.126
18	3085137	G	T	18	3085139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00843903379594924	0.11
18	3085138	G	A	18	3085140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.90468248302031E-5	0.0
18	3085138	G	C	18	3085140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.48842711910451E-4	0.068
18	3085138	G	T	18	3085140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00223357730424298	0.046
18	3085139	G	A	18	3085141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.74683054004363E-4	0.008
18	3085139	G	C	18	3085141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00969621142994133	0.152
18	3085139	G	T	18	3085141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0216904566073932	0.14
18	3085140	A	C	18	3085142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.92516228138222E-4	0.166
18	3085140	A	G	18	3085142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.8558776194279E-5	0.026
18	3085140	A	T	18	3085142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00662879033264298	0.182
18	3085141	A	C	18	3085143	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999891557795346	0.954
18	3085141	A	G	18	3085143	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00151366903497976	0.162
18	3085141	A	T	18	3085143	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0439606779258116	0.384
18	3085142	T	A	18	3085144	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.99977424360978E-5	0.0
18	3085142	T	C	18	3085144	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.2199752849937E-5	0.02
18	3085142	T	G	18	3085144	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.51297206190421E-5	0.0
18	3086028	T	A	18	3086030	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.24236979434921E-5	0.0
18	3086028	T	C	18	3086030	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.69439264402225E-5	0.0
18	3086028	T	G	18	3086030	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.49987850486752E-5	0.0
18	3086029	C	A	18	3086031	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.28655687538592E-4	0.056
18	3086029	C	G	18	3086031	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.57694978740921E-4	0.098
18	3086029	C	T	18	3086031	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.57694978740921E-4	0.032
18	3086030	G	A	18	3086032	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.54842130893826E-6	0.026
18	3086030	G	C	18	3086032	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.53377262039097E-5	0.02
18	3086030	G	T	18	3086032	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.04766442146192E-5	0.0
18	3086031	C	A	18	3086033	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999890436647717	0.872
18	3086031	C	G	18	3086033	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997953023752243	0.748
18	3086031	C	T	18	3086033	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99937241903367	0.834
18	3086032	C	A	18	3086034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.85457464019894E-4	0.028
18	3086032	C	G	18	3086034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.3133835443835E-4	0.046
18	3086032	C	T	18	3086034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.30166925124944E-4	0.086
18	3086033	T	A	18	3086035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.986074216913214	0.762
18	3086033	T	C	18	3086035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.43093685786304	0.468
18	3086033	T	G	18	3086035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.986184624094662	0.78
18	3086034	A	C	18	3086036	y	y	splicing	MYOM1(NM_019856:exon30:c.3963+2T>G;NM_003803:exon31:c.4251+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4251+2T>G;ENST00000356443:exon31:c.4251+2T>G;ENST00000261606:exon30:c.3963+2T>G;ENST00000581075:exon5:c.351+2T>G)	.	.	0.999992446697775	0.93
18	3086034	A	G	18	3086036	y	y	splicing	MYOM1(NM_019856:exon30:c.3963+2T>C;NM_003803:exon31:c.4251+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4251+2T>C;ENST00000356443:exon31:c.4251+2T>C;ENST00000261606:exon30:c.3963+2T>C;ENST00000581075:exon5:c.351+2T>C)	.	.	0.989838600809155	0.652
18	3086034	A	T	18	3086036	y	y	splicing	MYOM1(NM_019856:exon30:c.3963+2T>A;NM_003803:exon31:c.4251+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4251+2T>A;ENST00000356443:exon31:c.4251+2T>A;ENST00000261606:exon30:c.3963+2T>A;ENST00000581075:exon5:c.351+2T>A)	.	.	0.999992446697775	0.93
18	3086035	C	A	18	3086037	y	y	splicing	MYOM1(NM_019856:exon30:c.3963+1G>T;NM_003803:exon31:c.4251+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4251+1G>T;ENST00000356443:exon31:c.4251+1G>T;ENST00000261606:exon30:c.3963+1G>T;ENST00000581075:exon5:c.351+1G>T)	.	.	0.999990361384395	0.928
18	3086035	C	G	18	3086037	y	y	splicing	MYOM1(NM_019856:exon30:c.3963+1G>C;NM_003803:exon31:c.4251+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4251+1G>C;ENST00000356443:exon31:c.4251+1G>C;ENST00000261606:exon30:c.3963+1G>C;ENST00000581075:exon5:c.351+1G>C)	.	.	0.999990361384395	0.926
18	3086035	C	T	18	3086037	y	y	splicing	MYOM1(NM_019856:exon30:c.3963+1G>A;NM_003803:exon31:c.4251+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4251+1G>A;ENST00000356443:exon31:c.4251+1G>A;ENST00000261606:exon30:c.3963+1G>A;ENST00000581075:exon5:c.351+1G>A)	.	.	0.999990361384395	0.928
18	3086036	C	A	18	3086038	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.G3963T:p.E1321D;MYOM1:NM_003803:exon30:c.G4251T:p.E1417D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.G4251T:p.E1417D;ENSG00000101605:ENST00000400569:exon30:c.G4251T:p.E1417D;ENSG00000101605:ENST00000261606:exon29:c.G3963T:p.E1321D;ENSG00000101605:ENST00000581075:exon4:c.G351T:p.E117D;	0.999992598779722	0.994
18	3086036	C	G	18	3086038	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.G3963C:p.E1321D;MYOM1:NM_003803:exon30:c.G4251C:p.E1417D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.G4251C:p.E1417D;ENSG00000101605:ENST00000400569:exon30:c.G4251C:p.E1417D;ENSG00000101605:ENST00000261606:exon29:c.G3963C:p.E1321D;ENSG00000101605:ENST00000581075:exon4:c.G351C:p.E117D;	0.999997179430237	0.984
18	3086036	C	T	18	3086038	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon29:c.G3963A:p.E1321E;MYOM1:NM_003803:exon30:c.G4251A:p.E1417E;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.G4251A:p.E1417E;ENSG00000101605:ENST00000400569:exon30:c.G4251A:p.E1417E;ENSG00000101605:ENST00000261606:exon29:c.G3963A:p.E1321E;ENSG00000101605:ENST00000581075:exon4:c.G351A:p.E117E;	0.999931859190394	0.974
18	3086037	T	A	18	3086039	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.A3962T:p.E1321V;MYOM1:NM_003803:exon30:c.A4250T:p.E1417V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.A4250T:p.E1417V;ENSG00000101605:ENST00000400569:exon30:c.A4250T:p.E1417V;ENSG00000101605:ENST00000261606:exon29:c.A3962T:p.E1321V;ENSG00000101605:ENST00000581075:exon4:c.A350T:p.E117V;	0.999876946834085	1.0
18	3086037	T	C	18	3086039	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.A3962G:p.E1321G;MYOM1:NM_003803:exon30:c.A4250G:p.E1417G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.A4250G:p.E1417G;ENSG00000101605:ENST00000400569:exon30:c.A4250G:p.E1417G;ENSG00000101605:ENST00000261606:exon29:c.A3962G:p.E1321G;ENSG00000101605:ENST00000581075:exon4:c.A350G:p.E117G;	0.999883955627303	1.0
18	3086037	T	G	18	3086039	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.A3962C:p.E1321A;MYOM1:NM_003803:exon30:c.A4250C:p.E1417A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.A4250C:p.E1417A;ENSG00000101605:ENST00000400569:exon30:c.A4250C:p.E1417A;ENSG00000101605:ENST00000261606:exon29:c.A3962C:p.E1321A;ENSG00000101605:ENST00000581075:exon4:c.A350C:p.E117A;	0.999789380613509	0.984
18	3086038	C	A	18	3086040	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon29:c.G3961T:p.E1321X;MYOM1:NM_003803:exon30:c.G4249T:p.E1417X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon30:c.G4249T:p.E1417X;ENSG00000101605:ENST00000400569:exon30:c.G4249T:p.E1417X;ENSG00000101605:ENST00000261606:exon29:c.G3961T:p.E1321X;ENSG00000101605:ENST00000581075:exon4:c.G349T:p.E117X;	0.987532199507847	0.796
18	3086038	C	G	18	3086040	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.G3961C:p.E1321Q;MYOM1:NM_003803:exon30:c.G4249C:p.E1417Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.G4249C:p.E1417Q;ENSG00000101605:ENST00000400569:exon30:c.G4249C:p.E1417Q;ENSG00000101605:ENST00000261606:exon29:c.G3961C:p.E1321Q;ENSG00000101605:ENST00000581075:exon4:c.G349C:p.E117Q;	0.00297229569808648	0.026
18	3086038	C	T	18	3086040	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.G3961A:p.E1321K;MYOM1:NM_003803:exon30:c.G4249A:p.E1417K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.G4249A:p.E1417K;ENSG00000101605:ENST00000400569:exon30:c.G4249A:p.E1417K;ENSG00000101605:ENST00000261606:exon29:c.G3961A:p.E1321K;ENSG00000101605:ENST00000581075:exon4:c.G349A:p.E117K;	0.00191793325425381	0.03
18	3086148	A	C	18	3086150	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.T3851G:p.V1284G;MYOM1:NM_003803:exon30:c.T4139G:p.V1380G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.T4139G:p.V1380G;ENSG00000101605:ENST00000400569:exon30:c.T4139G:p.V1380G;ENSG00000101605:ENST00000261606:exon29:c.T3851G:p.V1284G;ENSG00000101605:ENST00000581075:exon4:c.T239G:p.V80G;	0.230253553041293	0.364
18	3086148	A	G	18	3086150	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.T3851C:p.V1284A;MYOM1:NM_003803:exon30:c.T4139C:p.V1380A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.T4139C:p.V1380A;ENSG00000101605:ENST00000400569:exon30:c.T4139C:p.V1380A;ENSG00000101605:ENST00000261606:exon29:c.T3851C:p.V1284A;ENSG00000101605:ENST00000581075:exon4:c.T239C:p.V80A;	0.266792176305198	0.368
18	3086148	A	T	18	3086150	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.T3851A:p.V1284E;MYOM1:NM_003803:exon30:c.T4139A:p.V1380E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.T4139A:p.V1380E;ENSG00000101605:ENST00000400569:exon30:c.T4139A:p.V1380E;ENSG00000101605:ENST00000261606:exon29:c.T3851A:p.V1284E;ENSG00000101605:ENST00000581075:exon4:c.T239A:p.V80E;	0.279312078268616	0.396
18	3086149	C	A	18	3086151	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.G3850T:p.V1284L;MYOM1:NM_003803:exon30:c.G4138T:p.V1380L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.G4138T:p.V1380L;ENSG00000101605:ENST00000400569:exon30:c.G4138T:p.V1380L;ENSG00000101605:ENST00000261606:exon29:c.G3850T:p.V1284L;ENSG00000101605:ENST00000581075:exon4:c.G238T:p.V80L;	0.999425683327065	0.856
18	3086149	C	G	18	3086151	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.G3850C:p.V1284L;MYOM1:NM_003803:exon30:c.G4138C:p.V1380L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.G4138C:p.V1380L;ENSG00000101605:ENST00000400569:exon30:c.G4138C:p.V1380L;ENSG00000101605:ENST00000261606:exon29:c.G3850C:p.V1284L;ENSG00000101605:ENST00000581075:exon4:c.G238C:p.V80L;	0.999348769820768	0.884
18	3086149	C	T	18	3086151	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon29:c.G3850A:p.V1284M;MYOM1:NM_003803:exon30:c.G4138A:p.V1380M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon30:c.G4138A:p.V1380M;ENSG00000101605:ENST00000400569:exon30:c.G4138A:p.V1380M;ENSG00000101605:ENST00000261606:exon29:c.G3850A:p.V1284M;ENSG00000101605:ENST00000581075:exon4:c.G238A:p.V80M;	0.998442275254767	0.746
18	3086150	C	A	18	3086152	y	y	splicing	MYOM1(NM_019856:exon30:c.3850-1G>T;NM_003803:exon31:c.4138-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4138-1G>T;ENST00000356443:exon31:c.4138-1G>T;ENST00000261606:exon30:c.3850-1G>T;ENST00000581075:exon5:c.238-1G>T)	.	.	0.999970205305079	0.908
18	3086150	C	G	18	3086152	y	y	splicing	MYOM1(NM_019856:exon30:c.3850-1G>C;NM_003803:exon31:c.4138-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4138-1G>C;ENST00000356443:exon31:c.4138-1G>C;ENST00000261606:exon30:c.3850-1G>C;ENST00000581075:exon5:c.238-1G>C)	.	.	0.999976475802857	0.9
18	3086150	C	T	18	3086152	y	y	splicing	MYOM1(NM_019856:exon30:c.3850-1G>A;NM_003803:exon31:c.4138-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4138-1G>A;ENST00000356443:exon31:c.4138-1G>A;ENST00000261606:exon30:c.3850-1G>A;ENST00000581075:exon5:c.238-1G>A)	.	.	0.999971209564868	0.928
18	3086151	T	A	18	3086153	y	y	splicing	MYOM1(NM_019856:exon30:c.3850-2A>T;NM_003803:exon31:c.4138-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4138-2A>T;ENST00000356443:exon31:c.4138-2A>T;ENST00000261606:exon30:c.3850-2A>T;ENST00000581075:exon5:c.238-2A>T)	.	.	0.99998491298609	0.894
18	3086151	T	C	18	3086153	y	y	splicing	MYOM1(NM_019856:exon30:c.3850-2A>G;NM_003803:exon31:c.4138-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4138-2A>G;ENST00000356443:exon31:c.4138-2A>G;ENST00000261606:exon30:c.3850-2A>G;ENST00000581075:exon5:c.238-2A>G)	.	.	0.999985353572514	0.844
18	3086151	T	G	18	3086153	y	y	splicing	MYOM1(NM_019856:exon30:c.3850-2A>C;NM_003803:exon31:c.4138-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon31:c.4138-2A>C;ENST00000356443:exon31:c.4138-2A>C;ENST00000261606:exon30:c.3850-2A>C;ENST00000581075:exon5:c.238-2A>C)	.	.	0.999985353572514	0.818
18	3086152	A	C	18	3086154	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.588779620033698	0.58
18	3086152	A	G	18	3086154	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.38198588460567E-5	0.002
18	3086152	A	T	18	3086154	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.97310978526515E-4	0.07
18	3086153	G	A	18	3086155	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.66058585819257E-5	0.0
18	3086153	G	C	18	3086155	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.09891423225415E-5	0.002
18	3086153	G	T	18	3086155	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.66058585819257E-5	0.0
18	3086154	G	A	18	3086156	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.70458672853323E-5	0.032
18	3086154	G	C	18	3086156	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.17435920984521E-5	0.006
18	3086154	G	T	18	3086156	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.14615163769585E-5	0.006
18	3086155	A	C	18	3086157	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0434033681128135	0.232
18	3086155	A	G	18	3086157	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.18472629844145E-4	0.018
18	3086155	A	T	18	3086157	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00973319071876647	0.108
18	3086156	G	A	18	3086158	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.64388408928553E-5	0.004
18	3086156	G	C	18	3086158	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.61608074761651E-4	0.048
18	3086156	G	T	18	3086158	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.94350768843894E-4	0.044
18	3086157	A	C	18	3086159	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.89359215643845E-5	0.022
18	3086157	A	G	18	3086159	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.10412090361252E-5	0.0
18	3086157	A	T	18	3086159	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.05267506605391E-4	0.032
18	3086158	A	C	18	3086160	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00178964575476401	0.152
18	3086158	A	G	18	3086160	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.43464035735147E-4	0.002
18	3086158	A	T	18	3086160	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00252117393515687	0.132
18	3086159	A	C	18	3086161	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0852290572476734	0.318
18	3086159	A	G	18	3086161	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.46426735420465E-4	0.034
18	3086159	A	T	18	3086161	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.274690711549438	0.426
18	3086160	A	C	18	3086162	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0172085627440055	0.266
18	3086160	A	G	18	3086162	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00432233797558319	0.126
18	3086160	A	T	18	3086162	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.020559413047596	0.272
18	3086161	A	C	18	3086163	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00176615847581896	0.174
18	3086161	A	G	18	3086163	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.40077078143752E-5	0.004
18	3086161	A	T	18	3086163	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00356014352521585	0.158
18	3089164	C	A	18	3089166	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.90028566392549E-5	0.0
18	3089164	C	G	18	3089166	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.13879224812485E-5	0.0
18	3089164	C	T	18	3089166	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.90028566392549E-5	0.002
18	3089165	C	A	18	3089167	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.29439534220341E-5	0.002
18	3089165	C	G	18	3089167	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.38476859060995E-5	0.0
18	3089165	C	T	18	3089167	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.5732183902016E-5	0.0
18	3089166	T	A	18	3089168	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.05861460982334E-5	0.008
18	3089166	T	C	18	3089168	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.49133384544372E-6	0.0
18	3089166	T	G	18	3089168	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.9803310736574E-5	0.008
18	3089167	C	A	18	3089169	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.975406771245696	0.518
18	3089167	C	G	18	3089169	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.911364887440183	0.568
18	3089167	C	T	18	3089169	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.943281260901785	0.59
18	3089168	T	A	18	3089170	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.496463361963897	0.604
18	3089168	T	C	18	3089170	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.732569092331554	0.444
18	3089168	T	G	18	3089170	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.443751518181016	0.554
18	3089169	T	A	18	3089171	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.969262059838586	0.624
18	3089169	T	C	18	3089171	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0817352584274475	0.28
18	3089169	T	G	18	3089171	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.967136252616075	0.692
18	3089170	A	C	18	3089172	y	y	splicing	MYOM1(NM_019856:exon29:c.3849+2T>G;NM_003803:exon30:c.4137+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4137+2T>G;ENST00000356443:exon30:c.4137+2T>G;ENST00000261606:exon29:c.3849+2T>G;ENST00000581075:exon4:c.237+2T>G)	.	.	0.999962958601995	0.848
18	3089170	A	G	18	3089172	y	y	splicing	MYOM1(NM_019856:exon29:c.3849+2T>C;NM_003803:exon30:c.4137+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4137+2T>C;ENST00000356443:exon30:c.4137+2T>C;ENST00000261606:exon29:c.3849+2T>C;ENST00000581075:exon4:c.237+2T>C)	.	.	0.923130338100582	0.61
18	3089170	A	T	18	3089172	y	y	splicing	MYOM1(NM_019856:exon29:c.3849+2T>A;NM_003803:exon30:c.4137+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4137+2T>A;ENST00000356443:exon30:c.4137+2T>A;ENST00000261606:exon29:c.3849+2T>A;ENST00000581075:exon4:c.237+2T>A)	.	.	0.999969255906173	0.86
18	3089171	C	A	18	3089173	y	y	splicing	MYOM1(NM_019856:exon29:c.3849+1G>T;NM_003803:exon30:c.4137+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4137+1G>T;ENST00000356443:exon30:c.4137+1G>T;ENST00000261606:exon29:c.3849+1G>T;ENST00000581075:exon4:c.237+1G>T)	.	.	0.999967358293902	0.936
18	3089171	C	G	18	3089173	y	y	splicing	MYOM1(NM_019856:exon29:c.3849+1G>C;NM_003803:exon30:c.4137+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4137+1G>C;ENST00000356443:exon30:c.4137+1G>C;ENST00000261606:exon29:c.3849+1G>C;ENST00000581075:exon4:c.237+1G>C)	.	.	0.99996621969971	0.924
18	3089171	C	T	18	3089173	y	y	splicing	MYOM1(NM_019856:exon29:c.3849+1G>A;NM_003803:exon30:c.4137+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4137+1G>A;ENST00000356443:exon30:c.4137+1G>A;ENST00000261606:exon29:c.3849+1G>A;ENST00000581075:exon4:c.237+1G>A)	.	.	0.999967358293902	0.936
18	3089172	C	A	18	3089174	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.G3849T:p.K1283N;MYOM1:NM_003803:exon29:c.G4137T:p.K1379N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.G4137T:p.K1379N;ENSG00000101605:ENST00000400569:exon29:c.G4137T:p.K1379N;ENSG00000101605:ENST00000261606:exon28:c.G3849T:p.K1283N;ENSG00000101605:ENST00000581075:exon3:c.G237T:p.K79N;	0.999892969335742	0.976
18	3089172	C	G	18	3089174	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.G3849C:p.K1283N;MYOM1:NM_003803:exon29:c.G4137C:p.K1379N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.G4137C:p.K1379N;ENSG00000101605:ENST00000400569:exon29:c.G4137C:p.K1379N;ENSG00000101605:ENST00000261606:exon28:c.G3849C:p.K1283N;ENSG00000101605:ENST00000581075:exon3:c.G237C:p.K79N;	0.99998346704894	0.962
18	3089172	C	T	18	3089174	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon28:c.G3849A:p.K1283K;MYOM1:NM_003803:exon29:c.G4137A:p.K1379K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.G4137A:p.K1379K;ENSG00000101605:ENST00000400569:exon29:c.G4137A:p.K1379K;ENSG00000101605:ENST00000261606:exon28:c.G3849A:p.K1283K;ENSG00000101605:ENST00000581075:exon3:c.G237A:p.K79K;	0.983907390175373	0.87
18	3089173	T	A	18	3089175	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.A3848T:p.K1283M;MYOM1:NM_003803:exon29:c.A4136T:p.K1379M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.A4136T:p.K1379M;ENSG00000101605:ENST00000400569:exon29:c.A4136T:p.K1379M;ENSG00000101605:ENST00000261606:exon28:c.A3848T:p.K1283M;ENSG00000101605:ENST00000581075:exon3:c.A236T:p.K79M;	0.992888316682334	0.646
18	3089173	T	C	18	3089175	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.A3848G:p.K1283R;MYOM1:NM_003803:exon29:c.A4136G:p.K1379R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.A4136G:p.K1379R;ENSG00000101605:ENST00000400569:exon29:c.A4136G:p.K1379R;ENSG00000101605:ENST00000261606:exon28:c.A3848G:p.K1283R;ENSG00000101605:ENST00000581075:exon3:c.A236G:p.K79R;	0.996731407317422	0.946
18	3089173	T	G	18	3089175	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.A3848C:p.K1283T;MYOM1:NM_003803:exon29:c.A4136C:p.K1379T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.A4136C:p.K1379T;ENSG00000101605:ENST00000400569:exon29:c.A4136C:p.K1379T;ENSG00000101605:ENST00000261606:exon28:c.A3848C:p.K1283T;ENSG00000101605:ENST00000581075:exon3:c.A236C:p.K79T;	0.992133220852168	0.908
18	3089174	T	A	18	3089176	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon28:c.A3847T:p.K1283X;MYOM1:NM_003803:exon29:c.A4135T:p.K1379X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon29:c.A4135T:p.K1379X;ENSG00000101605:ENST00000400569:exon29:c.A4135T:p.K1379X;ENSG00000101605:ENST00000261606:exon28:c.A3847T:p.K1283X;ENSG00000101605:ENST00000581075:exon3:c.A235T:p.K79X;	0.971044771897997	0.676
18	3089174	T	C	18	3089176	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.A3847G:p.K1283E;MYOM1:NM_003803:exon29:c.A4135G:p.K1379E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.A4135G:p.K1379E;ENSG00000101605:ENST00000400569:exon29:c.A4135G:p.K1379E;ENSG00000101605:ENST00000261606:exon28:c.A3847G:p.K1283E;ENSG00000101605:ENST00000581075:exon3:c.A235G:p.K79E;	0.41245574957413	0.358
18	3089174	T	G	18	3089176	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.A3847C:p.K1283Q;MYOM1:NM_003803:exon29:c.A4135C:p.K1379Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.A4135C:p.K1379Q;ENSG00000101605:ENST00000400569:exon29:c.A4135C:p.K1379Q;ENSG00000101605:ENST00000261606:exon28:c.A3847C:p.K1283Q;ENSG00000101605:ENST00000581075:exon3:c.A235C:p.K79Q;	0.808031006406944	0.518
18	3089238	A	C	18	3089240	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon28:c.T3783G:p.G1261G;MYOM1:NM_003803:exon29:c.T4071G:p.G1357G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.T4071G:p.G1357G;ENSG00000101605:ENST00000400569:exon29:c.T4071G:p.G1357G;ENSG00000101605:ENST00000261606:exon28:c.T3783G:p.G1261G;ENSG00000101605:ENST00000581075:exon3:c.T171G:p.G57G;	0.00578526970811244	0.15
18	3089238	A	G	18	3089240	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon28:c.T3783C:p.G1261G;MYOM1:NM_003803:exon29:c.T4071C:p.G1357G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.T4071C:p.G1357G;ENSG00000101605:ENST00000400569:exon29:c.T4071C:p.G1357G;ENSG00000101605:ENST00000261606:exon28:c.T3783C:p.G1261G;ENSG00000101605:ENST00000581075:exon3:c.T171C:p.G57G;	0.00575054379778232	0.14
18	3089238	A	T	18	3089240	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon28:c.T3783A:p.G1261G;MYOM1:NM_003803:exon29:c.T4071A:p.G1357G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.T4071A:p.G1357G;ENSG00000101605:ENST00000400569:exon29:c.T4071A:p.G1357G;ENSG00000101605:ENST00000261606:exon28:c.T3783A:p.G1261G;ENSG00000101605:ENST00000581075:exon3:c.T171A:p.G57G;	0.00743883789119624	0.116
18	3089239	C	A	18	3089241	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.G3782T:p.G1261V;MYOM1:NM_003803:exon29:c.G4070T:p.G1357V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.G4070T:p.G1357V;ENSG00000101605:ENST00000400569:exon29:c.G4070T:p.G1357V;ENSG00000101605:ENST00000261606:exon28:c.G3782T:p.G1261V;ENSG00000101605:ENST00000581075:exon3:c.G170T:p.G57V;	0.99994854869485	0.994
18	3089239	C	G	18	3089241	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.G3782C:p.G1261A;MYOM1:NM_003803:exon29:c.G4070C:p.G1357A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.G4070C:p.G1357A;ENSG00000101605:ENST00000400569:exon29:c.G4070C:p.G1357A;ENSG00000101605:ENST00000261606:exon28:c.G3782C:p.G1261A;ENSG00000101605:ENST00000581075:exon3:c.G170C:p.G57A;	0.999873997583914	0.994
18	3089239	C	T	18	3089241	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon28:c.G3782A:p.G1261D;MYOM1:NM_003803:exon29:c.G4070A:p.G1357D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon29:c.G4070A:p.G1357D;ENSG00000101605:ENST00000400569:exon29:c.G4070A:p.G1357D;ENSG00000101605:ENST00000261606:exon28:c.G3782A:p.G1261D;ENSG00000101605:ENST00000581075:exon3:c.G170A:p.G57D;	0.999642728887248	0.974
18	3089240	C	A	18	3089242	y	y	splicing	MYOM1(NM_019856:exon29:c.3782-1G>T;NM_003803:exon30:c.4070-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4070-1G>T;ENST00000356443:exon30:c.4070-1G>T;ENST00000261606:exon29:c.3782-1G>T;ENST00000581075:exon4:c.170-1G>T)	.	.	0.999989072007339	0.934
18	3089240	C	G	18	3089242	y	y	splicing	MYOM1(NM_019856:exon29:c.3782-1G>C;NM_003803:exon30:c.4070-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4070-1G>C;ENST00000356443:exon30:c.4070-1G>C;ENST00000261606:exon29:c.3782-1G>C;ENST00000581075:exon4:c.170-1G>C)	.	.	0.999989072007339	0.934
18	3089240	C	T	18	3089242	y	y	splicing	MYOM1(NM_019856:exon29:c.3782-1G>A;NM_003803:exon30:c.4070-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4070-1G>A;ENST00000356443:exon30:c.4070-1G>A;ENST00000261606:exon29:c.3782-1G>A;ENST00000581075:exon4:c.170-1G>A)	.	.	0.999989072007339	0.934
18	3089241	T	A	18	3089243	y	y	splicing	MYOM1(NM_019856:exon29:c.3782-2A>T;NM_003803:exon30:c.4070-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4070-2A>T;ENST00000356443:exon30:c.4070-2A>T;ENST00000261606:exon29:c.3782-2A>T;ENST00000581075:exon4:c.170-2A>T)	.	.	0.99994568797423	0.932
18	3089241	T	C	18	3089243	y	y	splicing	MYOM1(NM_019856:exon29:c.3782-2A>G;NM_003803:exon30:c.4070-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4070-2A>G;ENST00000356443:exon30:c.4070-2A>G;ENST00000261606:exon29:c.3782-2A>G;ENST00000581075:exon4:c.170-2A>G)	.	.	0.99994568797423	0.942
18	3089241	T	G	18	3089243	y	y	splicing	MYOM1(NM_019856:exon29:c.3782-2A>C;NM_003803:exon30:c.4070-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon30:c.4070-2A>C;ENST00000356443:exon30:c.4070-2A>C;ENST00000261606:exon29:c.3782-2A>C;ENST00000581075:exon4:c.170-2A>C)	.	.	0.99994568797423	0.942
18	3089242	A	C	18	3089244	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.936844366986947	0.666
18	3089242	A	G	18	3089244	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.81339674707084E-5	0.002
18	3089242	A	T	18	3089244	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.81014693796241E-4	0.202
18	3089243	T	A	18	3089245	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.43381421729566E-4	0.008
18	3089243	T	C	18	3089245	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00173802106547024	0.122
18	3089243	T	G	18	3089245	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.37118234190377E-5	0.06
18	3089244	A	C	18	3089246	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.880882424130893	0.55
18	3089244	A	G	18	3089246	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.70651316625773E-4	0.06
18	3089244	A	T	18	3089246	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.274073469324245	0.586
18	3089245	A	C	18	3089247	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.334234131338081	0.492
18	3089245	A	G	18	3089247	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.70388352984296E-4	0.008
18	3089245	A	T	18	3089247	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.170626245760786	0.476
18	3089246	A	C	18	3089248	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00649349996093934	0.138
18	3089246	A	G	18	3089248	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00142096468316998	0.13
18	3089246	A	T	18	3089248	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0086690449277406	0.138
18	3089247	A	C	18	3089249	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99990569119451	0.978
18	3089247	A	G	18	3089249	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00127362182196843	0.026
18	3089247	A	T	18	3089249	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.360638700105793	0.554
18	3089248	T	A	18	3089250	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.64959123698498E-4	0.006
18	3089248	T	C	18	3089250	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998933815303758	0.984
18	3089248	T	G	18	3089250	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.14846044310594E-4	0.0
18	3089249	T	A	18	3089251	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.77910589248535E-5	0.006
18	3089249	T	C	18	3089251	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999659716064482	0.996
18	3089249	T	G	18	3089251	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.29304138376207E-5	0.0
18	3089250	T	A	18	3089252	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00187098208810931	0.044
18	3089250	T	C	18	3089252	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998920505206029	0.904
18	3089250	T	G	18	3089252	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.32488741366591E-4	0.01
18	3089251	T	A	18	3089253	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.64511940003472E-5	0.008
18	3089251	T	C	18	3089253	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.37190071498177E-5	0.016
18	3089251	T	G	18	3089253	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.14329796929723E-4	0.0
18	3089527	A	C	18	3089529	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.05025840482098E-5	0.0
18	3089527	A	G	18	3089529	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.27527488746424E-5	0.002
18	3089527	A	T	18	3089529	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.27527488746424E-5	0.0
18	3089528	T	A	18	3089530	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.95252251993361E-4	0.006
18	3089528	T	C	18	3089530	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.49717694973275E-5	0.0
18	3089528	T	G	18	3089530	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.15078250642871E-5	0.0
18	3089529	T	A	18	3089531	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.0807392338181E-5	0.006
18	3089529	T	C	18	3089531	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.43372736405207E-5	0.0
18	3089529	T	G	18	3089531	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.10513985366488E-5	0.012
18	3089530	T	A	18	3089532	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.16312808449251E-5	0.006
18	3089530	T	C	18	3089532	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.9014108745531E-4	0.072
18	3089530	T	G	18	3089532	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.60134138398907E-4	0.026
18	3089531	T	A	18	3089533	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.656732302858069	0.52
18	3089531	T	C	18	3089533	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.587815149290188	0.484
18	3089531	T	G	18	3089533	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.702955105307735	0.484
18	3089532	T	A	18	3089534	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999521828592829	0.878
18	3089532	T	C	18	3089534	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.994882380099686	0.598
18	3089532	T	G	18	3089534	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999838563061172	0.916
18	3089533	A	C	18	3089535	y	y	splicing	MYOM1(NM_019856:exon28:c.3781+2T>G;NM_003803:exon29:c.4069+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4069+2T>G;ENST00000356443:exon29:c.4069+2T>G;ENST00000261606:exon28:c.3781+2T>G;ENST00000581075:exon3:c.169+2T>G)	.	.	0.999971317418422	0.898
18	3089533	A	G	18	3089535	y	y	splicing	MYOM1(NM_019856:exon28:c.3781+2T>C;NM_003803:exon29:c.4069+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4069+2T>C;ENST00000356443:exon29:c.4069+2T>C;ENST00000261606:exon28:c.3781+2T>C;ENST00000581075:exon3:c.169+2T>C)	.	.	0.987155428961907	0.652
18	3089533	A	T	18	3089535	y	y	splicing	MYOM1(NM_019856:exon28:c.3781+2T>A;NM_003803:exon29:c.4069+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4069+2T>A;ENST00000356443:exon29:c.4069+2T>A;ENST00000261606:exon28:c.3781+2T>A;ENST00000581075:exon3:c.169+2T>A)	.	.	0.999971317418422	0.9
18	3089534	C	A	18	3089536	y	y	splicing	MYOM1(NM_019856:exon28:c.3781+1G>T;NM_003803:exon29:c.4069+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4069+1G>T;ENST00000356443:exon29:c.4069+1G>T;ENST00000261606:exon28:c.3781+1G>T;ENST00000581075:exon3:c.169+1G>T)	.	.	0.999967358293902	0.936
18	3089534	C	G	18	3089536	y	y	splicing	MYOM1(NM_019856:exon28:c.3781+1G>C;NM_003803:exon29:c.4069+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4069+1G>C;ENST00000356443:exon29:c.4069+1G>C;ENST00000261606:exon28:c.3781+1G>C;ENST00000581075:exon3:c.169+1G>C)	.	.	0.99996621969971	0.934
18	3089534	C	T	18	3089536	y	y	splicing	MYOM1(NM_019856:exon28:c.3781+1G>A;NM_003803:exon29:c.4069+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4069+1G>A;ENST00000356443:exon29:c.4069+1G>A;ENST00000261606:exon28:c.3781+1G>A;ENST00000581075:exon3:c.169+1G>A)	.	.	0.999967358293902	0.936
18	3089535	C	A	18	3089537	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.G3781T:p.G1261C;MYOM1:NM_003803:exon28:c.G4069T:p.G1357C;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.G4069T:p.G1357C;ENSG00000101605:ENST00000400569:exon28:c.G4069T:p.G1357C;ENSG00000101605:ENST00000261606:exon27:c.G3781T:p.G1261C;ENSG00000101605:ENST00000581075:exon2:c.G169T:p.G57C;	0.999992084630314	0.982
18	3089535	C	G	18	3089537	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.G3781C:p.G1261R;MYOM1:NM_003803:exon28:c.G4069C:p.G1357R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.G4069C:p.G1357R;ENSG00000101605:ENST00000400569:exon28:c.G4069C:p.G1357R;ENSG00000101605:ENST00000261606:exon27:c.G3781C:p.G1261R;ENSG00000101605:ENST00000581075:exon2:c.G169C:p.G57R;	0.999997871243653	1.0
18	3089535	C	T	18	3089537	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.G3781A:p.G1261S;MYOM1:NM_003803:exon28:c.G4069A:p.G1357S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.G4069A:p.G1357S;ENSG00000101605:ENST00000400569:exon28:c.G4069A:p.G1357S;ENSG00000101605:ENST00000261606:exon27:c.G3781A:p.G1261S;ENSG00000101605:ENST00000581075:exon2:c.G169A:p.G57S;	0.999993449494972	1.0
18	3089536	T	A	18	3089538	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.A3780T:p.Q1260H;MYOM1:NM_003803:exon28:c.A4068T:p.Q1356H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.A4068T:p.Q1356H;ENSG00000101605:ENST00000400569:exon28:c.A4068T:p.Q1356H;ENSG00000101605:ENST00000261606:exon27:c.A3780T:p.Q1260H;ENSG00000101605:ENST00000581075:exon2:c.A168T:p.Q56H;	0.999175736160998	0.968
18	3089536	T	C	18	3089538	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon27:c.A3780G:p.Q1260Q;MYOM1:NM_003803:exon28:c.A4068G:p.Q1356Q;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.A4068G:p.Q1356Q;ENSG00000101605:ENST00000400569:exon28:c.A4068G:p.Q1356Q;ENSG00000101605:ENST00000261606:exon27:c.A3780G:p.Q1260Q;ENSG00000101605:ENST00000581075:exon2:c.A168G:p.Q56Q;	0.991156916653364	0.684
18	3089536	T	G	18	3089538	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.A3780C:p.Q1260H;MYOM1:NM_003803:exon28:c.A4068C:p.Q1356H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.A4068C:p.Q1356H;ENSG00000101605:ENST00000400569:exon28:c.A4068C:p.Q1356H;ENSG00000101605:ENST00000261606:exon27:c.A3780C:p.Q1260H;ENSG00000101605:ENST00000581075:exon2:c.A168C:p.Q56H;	0.995754136155518	0.866
18	3089537	T	A	18	3089539	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.A3779T:p.Q1260L;MYOM1:NM_003803:exon28:c.A4067T:p.Q1356L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.A4067T:p.Q1356L;ENSG00000101605:ENST00000400569:exon28:c.A4067T:p.Q1356L;ENSG00000101605:ENST00000261606:exon27:c.A3779T:p.Q1260L;ENSG00000101605:ENST00000581075:exon2:c.A167T:p.Q56L;	0.995121688887237	0.772
18	3089537	T	C	18	3089539	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.A3779G:p.Q1260R;MYOM1:NM_003803:exon28:c.A4067G:p.Q1356R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.A4067G:p.Q1356R;ENSG00000101605:ENST00000400569:exon28:c.A4067G:p.Q1356R;ENSG00000101605:ENST00000261606:exon27:c.A3779G:p.Q1260R;ENSG00000101605:ENST00000581075:exon2:c.A167G:p.Q56R;	0.578551933877422	0.548
18	3089537	T	G	18	3089539	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.A3779C:p.Q1260P;MYOM1:NM_003803:exon28:c.A4067C:p.Q1356P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.A4067C:p.Q1356P;ENSG00000101605:ENST00000400569:exon28:c.A4067C:p.Q1356P;ENSG00000101605:ENST00000261606:exon27:c.A3779C:p.Q1260P;ENSG00000101605:ENST00000581075:exon2:c.A167C:p.Q56P;	0.891307218743615	0.532
18	3089593	A	C	18	3089595	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon27:c.T3723G:p.V1241V;MYOM1:NM_003803:exon28:c.T4011G:p.V1337V;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.T4011G:p.V1337V;ENSG00000101605:ENST00000400569:exon28:c.T4011G:p.V1337V;ENSG00000101605:ENST00000261606:exon27:c.T3723G:p.V1241V;ENSG00000101605:ENST00000581075:exon2:c.T111G:p.V37V;	0.00119161909027143	0.04
18	3089593	A	G	18	3089595	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon27:c.T3723C:p.V1241V;MYOM1:NM_003803:exon28:c.T4011C:p.V1337V;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.T4011C:p.V1337V;ENSG00000101605:ENST00000400569:exon28:c.T4011C:p.V1337V;ENSG00000101605:ENST00000261606:exon27:c.T3723C:p.V1241V;ENSG00000101605:ENST00000581075:exon2:c.T111C:p.V37V;	0.00155019998844531	0.07
18	3089593	A	T	18	3089595	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon27:c.T3723A:p.V1241V;MYOM1:NM_003803:exon28:c.T4011A:p.V1337V;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.T4011A:p.V1337V;ENSG00000101605:ENST00000400569:exon28:c.T4011A:p.V1337V;ENSG00000101605:ENST00000261606:exon27:c.T3723A:p.V1241V;ENSG00000101605:ENST00000581075:exon2:c.T111A:p.V37V;	0.00361189601157512	0.076
18	3089594	A	C	18	3089596	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.T3722G:p.V1241G;MYOM1:NM_003803:exon28:c.T4010G:p.V1337G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.T4010G:p.V1337G;ENSG00000101605:ENST00000400569:exon28:c.T4010G:p.V1337G;ENSG00000101605:ENST00000261606:exon27:c.T3722G:p.V1241G;ENSG00000101605:ENST00000581075:exon2:c.T110G:p.V37G;	0.787306531477471	0.404
18	3089594	A	G	18	3089596	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.T3722C:p.V1241A;MYOM1:NM_003803:exon28:c.T4010C:p.V1337A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.T4010C:p.V1337A;ENSG00000101605:ENST00000400569:exon28:c.T4010C:p.V1337A;ENSG00000101605:ENST00000261606:exon27:c.T3722C:p.V1241A;ENSG00000101605:ENST00000581075:exon2:c.T110C:p.V37A;	0.0411928544212012	0.126
18	3089594	A	T	18	3089596	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.T3722A:p.V1241D;MYOM1:NM_003803:exon28:c.T4010A:p.V1337D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon28:c.T4010A:p.V1337D;ENSG00000101605:ENST00000400569:exon28:c.T4010A:p.V1337D;ENSG00000101605:ENST00000261606:exon27:c.T3722A:p.V1241D;ENSG00000101605:ENST00000581075:exon2:c.T110A:p.V37D;	0.410812581674025	0.414
18	3089595	C	A	18	3089597	y	y	splicing	MYOM1(NM_019856:exon28:c.3722-1G>T;NM_003803:exon29:c.4010-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4010-1G>T;ENST00000356443:exon29:c.4010-1G>T;ENST00000261606:exon28:c.3722-1G>T;ENST00000581075:exon3:c.110-1G>T)	.	.	0.999949496871441	0.944
18	3089595	C	G	18	3089597	y	y	splicing	MYOM1(NM_019856:exon28:c.3722-1G>C;NM_003803:exon29:c.4010-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4010-1G>C;ENST00000356443:exon29:c.4010-1G>C;ENST00000261606:exon28:c.3722-1G>C;ENST00000581075:exon3:c.110-1G>C)	.	.	0.999949496871441	0.942
18	3089595	C	T	18	3089597	y	y	splicing	MYOM1(NM_019856:exon28:c.3722-1G>A;NM_003803:exon29:c.4010-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4010-1G>A;ENST00000356443:exon29:c.4010-1G>A;ENST00000261606:exon28:c.3722-1G>A;ENST00000581075:exon3:c.110-1G>A)	.	.	0.999980428708689	0.944
18	3089596	T	A	18	3089598	y	y	splicing	MYOM1(NM_019856:exon28:c.3722-2A>T;NM_003803:exon29:c.4010-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4010-2A>T;ENST00000356443:exon29:c.4010-2A>T;ENST00000261606:exon28:c.3722-2A>T;ENST00000581075:exon3:c.110-2A>T)	.	.	0.99994568797423	0.962
18	3089596	T	C	18	3089598	y	y	splicing	MYOM1(NM_019856:exon28:c.3722-2A>G;NM_003803:exon29:c.4010-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4010-2A>G;ENST00000356443:exon29:c.4010-2A>G;ENST00000261606:exon28:c.3722-2A>G;ENST00000581075:exon3:c.110-2A>G)	.	.	0.99994568797423	0.966
18	3089596	T	G	18	3089598	y	y	splicing	MYOM1(NM_019856:exon28:c.3722-2A>C;NM_003803:exon29:c.4010-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon29:c.4010-2A>C;ENST00000356443:exon29:c.4010-2A>C;ENST00000261606:exon28:c.3722-2A>C;ENST00000581075:exon3:c.110-2A>C)	.	.	0.99994568797423	0.966
18	3089597	A	C	18	3089599	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.996752159501603	0.706
18	3089597	A	G	18	3089599	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.85656456501677E-5	0.022
18	3089597	A	T	18	3089599	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00260672111412928	0.25
18	3089598	C	A	18	3089600	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.34898355205865E-5	0.0
18	3089598	C	G	18	3089600	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.77631064053119E-6	0.0
18	3089598	C	T	18	3089600	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.64798504264802E-5	0.0
18	3089599	A	C	18	3089601	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.600046534901016	0.47
18	3089599	A	G	18	3089601	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00149740615806139	0.136
18	3089599	A	T	18	3089601	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99968023244291	0.954
18	3089600	A	C	18	3089602	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.14732652496003	0.43
18	3089600	A	G	18	3089602	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.58713502385482E-4	0.054
18	3089600	A	T	18	3089602	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.419875318467291	0.502
18	3089601	A	C	18	3089603	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999918383751847	0.988
18	3089601	A	G	18	3089603	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.15180478312583E-4	0.026
18	3089601	A	T	18	3089603	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0494852438667233	0.236
18	3089602	T	A	18	3089604	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.853035697153E-4	0.012
18	3089602	T	C	18	3089604	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998126894154272	0.898
18	3089602	T	G	18	3089604	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.57353773419053E-4	0.024
18	3089603	T	A	18	3089605	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.16568534426528E-5	0.0
18	3089603	T	C	18	3089605	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.11698130597196E-4	0.002
18	3089603	T	G	18	3089605	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.37232849915198E-4	0.002
18	3089604	G	A	18	3089606	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.77656197920742E-4	0.004
18	3089604	G	C	18	3089606	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.04508577116597E-4	0.048
18	3089604	G	T	18	3089606	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00112304384363179	0.052
18	3089605	A	C	18	3089607	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.325482252391487	0.546
18	3089605	A	G	18	3089607	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.243322037924911	0.296
18	3089605	A	T	18	3089607	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.913494187513434	0.658
18	3089606	A	C	18	3089608	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0121934362636549	0.262
18	3089606	A	G	18	3089608	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00123637304389352	0.08
18	3089606	A	T	18	3089608	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0155900850793083	0.25
18	3090648	A	C	18	3090650	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.09185406553421E-5	0.0
18	3090648	A	G	18	3090650	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.80014916385417E-5	0.0
18	3090648	A	T	18	3090650	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.51116515816085E-5	0.0
18	3090649	T	A	18	3090651	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.90139840569727E-4	0.036
18	3090649	T	C	18	3090651	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.00787505764898E-5	0.002
18	3090649	T	G	18	3090651	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.00787505764898E-5	0.002
18	3090650	T	A	18	3090652	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.52103531065693E-5	0.008
18	3090650	T	C	18	3090652	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.50651026424495E-5	0.0
18	3090650	T	G	18	3090652	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.55770678710788E-5	0.016
18	3090651	C	A	18	3090653	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999467807397835	0.8
18	3090651	C	G	18	3090653	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999901203892692	0.878
18	3090651	C	T	18	3090653	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999566919746339	0.88
18	3090652	T	A	18	3090654	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.760711281107678	0.53
18	3090652	T	C	18	3090654	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.775026011778945	0.558
18	3090652	T	G	18	3090654	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.138529981181148	0.352
18	3090653	T	A	18	3090655	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.888144351772144	0.67
18	3090653	T	C	18	3090655	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00224037457859352	0.086
18	3090653	T	G	18	3090655	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.930421677798769	0.7
18	3090654	A	C	18	3090656	y	y	splicing	MYOM1(NM_019856:exon27:c.3721+2T>G;NM_003803:exon28:c.4009+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.4009+2T>G;ENST00000356443:exon28:c.4009+2T>G;ENST00000261606:exon27:c.3721+2T>G;ENST00000581075:exon2:c.109+2T>G)	.	.	0.999971317418422	0.894
18	3090654	A	G	18	3090656	y	y	splicing	MYOM1(NM_019856:exon27:c.3721+2T>C;NM_003803:exon28:c.4009+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.4009+2T>C;ENST00000356443:exon28:c.4009+2T>C;ENST00000261606:exon27:c.3721+2T>C;ENST00000581075:exon2:c.109+2T>C)	.	.	0.999777348398491	0.828
18	3090654	A	T	18	3090656	y	y	splicing	MYOM1(NM_019856:exon27:c.3721+2T>A;NM_003803:exon28:c.4009+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.4009+2T>A;ENST00000356443:exon28:c.4009+2T>A;ENST00000261606:exon27:c.3721+2T>A;ENST00000581075:exon2:c.109+2T>A)	.	.	0.999963671976247	0.914
18	3090655	C	A	18	3090657	y	y	splicing	MYOM1(NM_019856:exon27:c.3721+1G>T;NM_003803:exon28:c.4009+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.4009+1G>T;ENST00000356443:exon28:c.4009+1G>T;ENST00000261606:exon27:c.3721+1G>T;ENST00000581075:exon2:c.109+1G>T)	.	.	0.999960200702261	0.934
18	3090655	C	G	18	3090657	y	y	splicing	MYOM1(NM_019856:exon27:c.3721+1G>C;NM_003803:exon28:c.4009+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.4009+1G>C;ENST00000356443:exon28:c.4009+1G>C;ENST00000261606:exon27:c.3721+1G>C;ENST00000581075:exon2:c.109+1G>C)	.	.	0.999960200702261	0.934
18	3090655	C	T	18	3090657	y	y	splicing	MYOM1(NM_019856:exon27:c.3721+1G>A;NM_003803:exon28:c.4009+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.4009+1G>A;ENST00000356443:exon28:c.4009+1G>A;ENST00000261606:exon27:c.3721+1G>A;ENST00000581075:exon2:c.109+1G>A)	.	.	0.999938990645747	0.936
18	3090656	C	A	18	3090658	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.G3721T:p.V1241F;MYOM1:NM_003803:exon27:c.G4009T:p.V1337F;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.G4009T:p.V1337F;ENSG00000101605:ENST00000400569:exon27:c.G4009T:p.V1337F;ENSG00000101605:ENST00000261606:exon26:c.G3721T:p.V1241F;ENSG00000101605:ENST00000581075:exon1:c.G109T:p.V37F;	0.999975379361844	0.998
18	3090656	C	G	18	3090658	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.G3721C:p.V1241L;MYOM1:NM_003803:exon27:c.G4009C:p.V1337L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.G4009C:p.V1337L;ENSG00000101605:ENST00000400569:exon27:c.G4009C:p.V1337L;ENSG00000101605:ENST00000261606:exon26:c.G3721C:p.V1241L;ENSG00000101605:ENST00000581075:exon1:c.G109C:p.V37L;	0.999987945108478	0.966
18	3090656	C	T	18	3090658	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.G3721A:p.V1241I;MYOM1:NM_003803:exon27:c.G4009A:p.V1337I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.G4009A:p.V1337I;ENSG00000101605:ENST00000400569:exon27:c.G4009A:p.V1337I;ENSG00000101605:ENST00000261606:exon26:c.G3721A:p.V1241I;ENSG00000101605:ENST00000581075:exon1:c.G109A:p.V37I;	0.999935367105906	0.986
18	3090657	A	C	18	3090659	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.T3720G:p.D1240E;MYOM1:NM_003803:exon27:c.T4008G:p.D1336E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.T4008G:p.D1336E;ENSG00000101605:ENST00000400569:exon27:c.T4008G:p.D1336E;ENSG00000101605:ENST00000261606:exon26:c.T3720G:p.D1240E;ENSG00000101605:ENST00000581075:exon1:c.T108G:p.D36E;	2.9376542224256E-4	0.016
18	3090657	A	G	18	3090659	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon26:c.T3720C:p.D1240D;MYOM1:NM_003803:exon27:c.T4008C:p.D1336D;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.T4008C:p.D1336D;ENSG00000101605:ENST00000400569:exon27:c.T4008C:p.D1336D;ENSG00000101605:ENST00000261606:exon26:c.T3720C:p.D1240D;ENSG00000101605:ENST00000581075:exon1:c.T108C:p.D36D;	1.20021167889497E-5	0.0
18	3090657	A	T	18	3090659	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.T3720A:p.D1240E;MYOM1:NM_003803:exon27:c.T4008A:p.D1336E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.T4008A:p.D1336E;ENSG00000101605:ENST00000400569:exon27:c.T4008A:p.D1336E;ENSG00000101605:ENST00000261606:exon26:c.T3720A:p.D1240E;ENSG00000101605:ENST00000581075:exon1:c.T108A:p.D36E;	6.33386233004804E-5	0.076
18	3090658	T	A	18	3090660	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.A3719T:p.D1240V;MYOM1:NM_003803:exon27:c.A4007T:p.D1336V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.A4007T:p.D1336V;ENSG00000101605:ENST00000400569:exon27:c.A4007T:p.D1336V;ENSG00000101605:ENST00000261606:exon26:c.A3719T:p.D1240V;ENSG00000101605:ENST00000581075:exon1:c.A107T:p.D36V;	0.988090074260853	0.6
18	3090658	T	C	18	3090660	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.A3719G:p.D1240G;MYOM1:NM_003803:exon27:c.A4007G:p.D1336G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.A4007G:p.D1336G;ENSG00000101605:ENST00000400569:exon27:c.A4007G:p.D1336G;ENSG00000101605:ENST00000261606:exon26:c.A3719G:p.D1240G;ENSG00000101605:ENST00000581075:exon1:c.A107G:p.D36G;	0.511013123761891	0.368
18	3090658	T	G	18	3090660	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.A3719C:p.D1240A;MYOM1:NM_003803:exon27:c.A4007C:p.D1336A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.A4007C:p.D1336A;ENSG00000101605:ENST00000400569:exon27:c.A4007C:p.D1336A;ENSG00000101605:ENST00000261606:exon26:c.A3719C:p.D1240A;ENSG00000101605:ENST00000581075:exon1:c.A107C:p.D36A;	0.610370808545065	0.492
18	3090799	T	A	18	3090801	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.A3578T:p.K1193I;MYOM1:NM_003803:exon27:c.A3866T:p.K1289I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.A3866T:p.K1289I;ENSG00000101605:ENST00000400569:exon27:c.A3866T:p.K1289I;ENSG00000101605:ENST00000261606:exon26:c.A3578T:p.K1193I;	0.886212506641903	0.7
18	3090799	T	C	18	3090801	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.A3578G:p.K1193R;MYOM1:NM_003803:exon27:c.A3866G:p.K1289R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.A3866G:p.K1289R;ENSG00000101605:ENST00000400569:exon27:c.A3866G:p.K1289R;ENSG00000101605:ENST00000261606:exon26:c.A3578G:p.K1193R;	0.909241967723279	0.632
18	3090799	T	G	18	3090801	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.A3578C:p.K1193T;MYOM1:NM_003803:exon27:c.A3866C:p.K1289T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.A3866C:p.K1289T;ENSG00000101605:ENST00000400569:exon27:c.A3866C:p.K1289T;ENSG00000101605:ENST00000261606:exon26:c.A3578C:p.K1193T;	0.795660957730278	0.66
18	3090800	T	A	18	3090802	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon26:c.A3577T:p.K1193X;MYOM1:NM_003803:exon27:c.A3865T:p.K1289X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon27:c.A3865T:p.K1289X;ENSG00000101605:ENST00000400569:exon27:c.A3865T:p.K1289X;ENSG00000101605:ENST00000261606:exon26:c.A3577T:p.K1193X;	0.902175942020115	0.514
18	3090800	T	C	18	3090802	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.A3577G:p.K1193E;MYOM1:NM_003803:exon27:c.A3865G:p.K1289E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.A3865G:p.K1289E;ENSG00000101605:ENST00000400569:exon27:c.A3865G:p.K1289E;ENSG00000101605:ENST00000261606:exon26:c.A3577G:p.K1193E;	0.604039756313567	0.44
18	3090800	T	G	18	3090802	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon26:c.A3577C:p.K1193Q;MYOM1:NM_003803:exon27:c.A3865C:p.K1289Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon27:c.A3865C:p.K1289Q;ENSG00000101605:ENST00000400569:exon27:c.A3865C:p.K1289Q;ENSG00000101605:ENST00000261606:exon26:c.A3577C:p.K1193Q;	0.667392633718737	0.448
18	3090801	C	A	18	3090803	y	y	splicing	MYOM1(NM_019856:exon27:c.3577-1G>T;NM_003803:exon28:c.3865-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.3865-1G>T;ENST00000356443:exon28:c.3865-1G>T;ENST00000261606:exon27:c.3577-1G>T)	.	.	0.999966867239407	0.926
18	3090801	C	G	18	3090803	y	y	splicing	MYOM1(NM_019856:exon27:c.3577-1G>C;NM_003803:exon28:c.3865-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.3865-1G>C;ENST00000356443:exon28:c.3865-1G>C;ENST00000261606:exon27:c.3577-1G>C)	.	.	0.999966867239407	0.926
18	3090801	C	T	18	3090803	y	y	splicing	MYOM1(NM_019856:exon27:c.3577-1G>A;NM_003803:exon28:c.3865-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.3865-1G>A;ENST00000356443:exon28:c.3865-1G>A;ENST00000261606:exon27:c.3577-1G>A)	.	.	0.99994920976939	0.928
18	3090802	T	A	18	3090804	y	y	splicing	MYOM1(NM_019856:exon27:c.3577-2A>T;NM_003803:exon28:c.3865-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.3865-2A>T;ENST00000356443:exon28:c.3865-2A>T;ENST00000261606:exon27:c.3577-2A>T)	.	.	0.999948844427023	0.848
18	3090802	T	C	18	3090804	y	y	splicing	MYOM1(NM_019856:exon27:c.3577-2A>G;NM_003803:exon28:c.3865-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.3865-2A>G;ENST00000356443:exon28:c.3865-2A>G;ENST00000261606:exon27:c.3577-2A>G)	.	.	0.999948844427023	0.806
18	3090802	T	G	18	3090804	y	y	splicing	MYOM1(NM_019856:exon27:c.3577-2A>C;NM_003803:exon28:c.3865-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon28:c.3865-2A>C;ENST00000356443:exon28:c.3865-2A>C;ENST00000261606:exon27:c.3577-2A>C)	.	.	0.999948844427023	0.806
18	3090803	T	A	18	3090805	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.63100779693438E-4	0.042
18	3090803	T	C	18	3090805	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.151378831474424	0.358
18	3090803	T	G	18	3090805	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.15368853447133E-4	0.204
18	3090804	C	A	18	3090806	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.70651695504429E-4	0.03
18	3090804	C	G	18	3090806	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.97250464747795E-4	0.078
18	3090804	C	T	18	3090806	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.18618480506462E-4	0.078
18	3090805	A	C	18	3090807	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99742744315443	0.666
18	3090805	A	G	18	3090807	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00762024081297643	0.154
18	3090805	A	T	18	3090807	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999938964210162	0.932
18	3090806	G	A	18	3090808	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.92751509264544E-5	0.078
18	3090806	G	C	18	3090808	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.989336476264184	0.77
18	3090806	G	T	18	3090808	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.83312785088711E-4	0.15
18	3090807	T	A	18	3090809	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.88753453131672E-5	0.0
18	3090807	T	C	18	3090809	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.63445581900446E-4	0.018
18	3090807	T	G	18	3090809	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.58664159222059E-5	0.002
18	3090808	G	A	18	3090810	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.88873951840287E-5	0.008
18	3090808	G	C	18	3090810	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999814019725762	0.988
18	3090808	G	T	18	3090810	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0069452711306593	0.124
18	3090809	T	A	18	3090811	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00111151651767598	0.042
18	3090809	T	C	18	3090811	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0012094028925644	0.008
18	3090809	T	G	18	3090811	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00140894580925285	0.036
18	3090810	G	A	18	3090812	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.15361398713488E-4	0.006
18	3090810	G	C	18	3090812	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0188844590374105	0.098
18	3090810	G	T	18	3090812	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00160539001605579	0.088
18	3090811	A	C	18	3090813	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.988401451605123	0.688
18	3090811	A	G	18	3090813	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0172727492741268	0.33
18	3090811	A	T	18	3090813	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.991950938254074	0.72
18	3090812	A	C	18	3090814	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.159259471908366	0.46
18	3090812	A	G	18	3090814	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.89829532409342E-4	0.078
18	3090812	A	T	18	3090814	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.684258110436001	0.612
18	3094160	A	C	18	3094162	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00116854689628846	0.01
18	3094160	A	G	18	3094162	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.71431971588066E-4	0.0
18	3094160	A	T	18	3094162	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.15454276252161E-4	0.01
18	3094161	A	C	18	3094163	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.55410418771981E-5	0.016
18	3094161	A	G	18	3094163	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.50864032604633E-5	0.02
18	3094161	A	T	18	3094163	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.5989445127226E-5	0.016
18	3094162	A	C	18	3094164	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0343962569540994	0.344
18	3094162	A	G	18	3094164	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.127229161040444	0.402
18	3094162	A	T	18	3094164	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0224558708430387	0.338
18	3094163	C	A	18	3094165	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999995452229656	0.968
18	3094163	C	G	18	3094165	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999984661564471	0.94
18	3094163	C	T	18	3094165	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999932561301181	0.974
18	3094164	C	A	18	3094166	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.74862833060482E-4	0.066
18	3094164	C	G	18	3094166	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.61705143231582E-4	0.134
18	3094164	C	T	18	3094166	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.76240437968025E-4	0.098
18	3094165	T	A	18	3094167	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.993772373933395	0.878
18	3094165	T	C	18	3094167	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.369632571992647	0.698
18	3094165	T	G	18	3094167	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.992464207859803	0.82
18	3094166	A	C	18	3094168	y	y	splicing	MYOM1(NM_019856:exon26:c.3576+2T>G;NM_003803:exon27:c.3864+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3864+2T>G;ENST00000356443:exon27:c.3864+2T>G;ENST00000261606:exon26:c.3576+2T>G)	.	.	0.999988247793601	0.928
18	3094166	A	G	18	3094168	y	y	splicing	MYOM1(NM_019856:exon26:c.3576+2T>C;NM_003803:exon27:c.3864+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3864+2T>C;ENST00000356443:exon27:c.3864+2T>C;ENST00000261606:exon26:c.3576+2T>C)	.	.	0.994063255842726	0.7
18	3094166	A	T	18	3094168	y	y	splicing	MYOM1(NM_019856:exon26:c.3576+2T>A;NM_003803:exon27:c.3864+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3864+2T>A;ENST00000356443:exon27:c.3864+2T>A;ENST00000261606:exon26:c.3576+2T>A)	.	.	0.999988247793601	0.93
18	3094167	C	A	18	3094169	y	y	splicing	MYOM1(NM_019856:exon26:c.3576+1G>T;NM_003803:exon27:c.3864+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3864+1G>T;ENST00000356443:exon27:c.3864+1G>T;ENST00000261606:exon26:c.3576+1G>T)	.	.	0.999990361384395	0.938
18	3094167	C	G	18	3094169	y	y	splicing	MYOM1(NM_019856:exon26:c.3576+1G>C;NM_003803:exon27:c.3864+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3864+1G>C;ENST00000356443:exon27:c.3864+1G>C;ENST00000261606:exon26:c.3576+1G>C)	.	.	0.999990361384395	0.938
18	3094167	C	T	18	3094169	y	y	splicing	MYOM1(NM_019856:exon26:c.3576+1G>A;NM_003803:exon27:c.3864+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3864+1G>A;ENST00000356443:exon27:c.3864+1G>A;ENST00000261606:exon26:c.3576+1G>A)	.	.	0.999990361384395	0.938
18	3094168	C	A	18	3094170	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon25:c.G3576T:p.P1192P;MYOM1:NM_003803:exon26:c.G3864T:p.P1288P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.G3864T:p.P1288P;ENSG00000101605:ENST00000400569:exon26:c.G3864T:p.P1288P;ENSG00000101605:ENST00000261606:exon25:c.G3576T:p.P1192P;	0.999938219680924	0.994
18	3094168	C	G	18	3094170	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon25:c.G3576C:p.P1192P;MYOM1:NM_003803:exon26:c.G3864C:p.P1288P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.G3864C:p.P1288P;ENSG00000101605:ENST00000400569:exon26:c.G3864C:p.P1288P;ENSG00000101605:ENST00000261606:exon25:c.G3576C:p.P1192P;	0.999983741727522	0.972
18	3094168	C	T	18	3094170	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon25:c.G3576A:p.P1192P;MYOM1:NM_003803:exon26:c.G3864A:p.P1288P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.G3864A:p.P1288P;ENSG00000101605:ENST00000400569:exon26:c.G3864A:p.P1288P;ENSG00000101605:ENST00000261606:exon25:c.G3576A:p.P1192P;	0.999952989856505	0.998
18	3094169	G	A	18	3094171	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3575T:p.P1192L;MYOM1:NM_003803:exon26:c.C3863T:p.P1288L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3863T:p.P1288L;ENSG00000101605:ENST00000400569:exon26:c.C3863T:p.P1288L;ENSG00000101605:ENST00000261606:exon25:c.C3575T:p.P1192L;	0.805637933302409	0.518
18	3094169	G	C	18	3094171	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3575G:p.P1192R;MYOM1:NM_003803:exon26:c.C3863G:p.P1288R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3863G:p.P1288R;ENSG00000101605:ENST00000400569:exon26:c.C3863G:p.P1288R;ENSG00000101605:ENST00000261606:exon25:c.C3575G:p.P1192R;	0.217194460986572	0.334
18	3094169	G	T	18	3094171	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3575A:p.P1192Q;MYOM1:NM_003803:exon26:c.C3863A:p.P1288Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3863A:p.P1288Q;ENSG00000101605:ENST00000400569:exon26:c.C3863A:p.P1288Q;ENSG00000101605:ENST00000261606:exon25:c.C3575A:p.P1192Q;	0.0647151945931826	0.228
18	3094170	G	A	18	3094172	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3574T:p.P1192S;MYOM1:NM_003803:exon26:c.C3862T:p.P1288S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3862T:p.P1288S;ENSG00000101605:ENST00000400569:exon26:c.C3862T:p.P1288S;ENSG00000101605:ENST00000261606:exon25:c.C3574T:p.P1192S;	0.999264202565645	0.724
18	3094170	G	C	18	3094172	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3574G:p.P1192A;MYOM1:NM_003803:exon26:c.C3862G:p.P1288A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3862G:p.P1288A;ENSG00000101605:ENST00000400569:exon26:c.C3862G:p.P1288A;ENSG00000101605:ENST00000261606:exon25:c.C3574G:p.P1192A;	0.88388734127591	0.618
18	3094170	G	T	18	3094172	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3574A:p.P1192T;MYOM1:NM_003803:exon26:c.C3862A:p.P1288T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3862A:p.P1288T;ENSG00000101605:ENST00000400569:exon26:c.C3862A:p.P1288T;ENSG00000101605:ENST00000261606:exon25:c.C3574A:p.P1192T;	0.917680816846291	0.706
18	3094303	A	C	18	3094305	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon25:c.T3441G:p.T1147T;MYOM1:NM_003803:exon26:c.T3729G:p.T1243T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.T3729G:p.T1243T;ENSG00000101605:ENST00000400569:exon26:c.T3729G:p.T1243T;ENSG00000101605:ENST00000261606:exon25:c.T3441G:p.T1147T;	1.87108930089329E-4	0.002
18	3094303	A	G	18	3094305	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon25:c.T3441C:p.T1147T;MYOM1:NM_003803:exon26:c.T3729C:p.T1243T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.T3729C:p.T1243T;ENSG00000101605:ENST00000400569:exon26:c.T3729C:p.T1243T;ENSG00000101605:ENST00000261606:exon25:c.T3441C:p.T1147T;	1.31346429280076E-4	0.008
18	3094303	A	T	18	3094305	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon25:c.T3441A:p.T1147T;MYOM1:NM_003803:exon26:c.T3729A:p.T1243T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.T3729A:p.T1243T;ENSG00000101605:ENST00000400569:exon26:c.T3729A:p.T1243T;ENSG00000101605:ENST00000261606:exon25:c.T3441A:p.T1147T;	0.00154130738118954	0.038
18	3094304	G	A	18	3094306	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3440T:p.T1147I;MYOM1:NM_003803:exon26:c.C3728T:p.T1243I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3728T:p.T1243I;ENSG00000101605:ENST00000400569:exon26:c.C3728T:p.T1243I;ENSG00000101605:ENST00000261606:exon25:c.C3440T:p.T1147I;	8.27026198076098E-5	0.016
18	3094304	G	C	18	3094306	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3440G:p.T1147S;MYOM1:NM_003803:exon26:c.C3728G:p.T1243S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3728G:p.T1243S;ENSG00000101605:ENST00000400569:exon26:c.C3728G:p.T1243S;ENSG00000101605:ENST00000261606:exon25:c.C3440G:p.T1147S;	1.22961878061951E-4	0.104
18	3094304	G	T	18	3094306	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon25:c.C3440A:p.T1147N;MYOM1:NM_003803:exon26:c.C3728A:p.T1243N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon26:c.C3728A:p.T1243N;ENSG00000101605:ENST00000400569:exon26:c.C3728A:p.T1243N;ENSG00000101605:ENST00000261606:exon25:c.C3440A:p.T1147N;	2.60408614035377E-5	0.0
18	3094305	C	A	18	3094307	y	y	splicing	MYOM1(NM_019856:exon26:c.3440-1G>T;NM_003803:exon27:c.3728-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3728-1G>T;ENST00000356443:exon27:c.3728-1G>T;ENST00000261606:exon26:c.3440-1G>T)	.	.	0.99995545544995	0.948
18	3094305	C	G	18	3094307	y	y	splicing	MYOM1(NM_019856:exon26:c.3440-1G>C;NM_003803:exon27:c.3728-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3728-1G>C;ENST00000356443:exon27:c.3728-1G>C;ENST00000261606:exon26:c.3440-1G>C)	.	.	0.99995545544995	0.948
18	3094305	C	T	18	3094307	y	y	splicing	MYOM1(NM_019856:exon26:c.3440-1G>A;NM_003803:exon27:c.3728-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3728-1G>A;ENST00000356443:exon27:c.3728-1G>A;ENST00000261606:exon26:c.3440-1G>A)	.	.	0.99995545544995	0.944
18	3094306	T	A	18	3094308	y	y	splicing	MYOM1(NM_019856:exon26:c.3440-2A>T;NM_003803:exon27:c.3728-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3728-2A>T;ENST00000356443:exon27:c.3728-2A>T;ENST00000261606:exon26:c.3440-2A>T)	.	.	0.999964896440643	0.932
18	3094306	T	C	18	3094308	y	y	splicing	MYOM1(NM_019856:exon26:c.3440-2A>G;NM_003803:exon27:c.3728-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3728-2A>G;ENST00000356443:exon27:c.3728-2A>G;ENST00000261606:exon26:c.3440-2A>G)	.	.	0.999951957019574	0.9
18	3094306	T	G	18	3094308	y	y	splicing	MYOM1(NM_019856:exon26:c.3440-2A>C;NM_003803:exon27:c.3728-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon27:c.3728-2A>C;ENST00000356443:exon27:c.3728-2A>C;ENST00000261606:exon26:c.3440-2A>C)	.	.	0.999951957019574	0.9
18	3094307	A	C	18	3094309	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.990077448738544	0.706
18	3094307	A	G	18	3094309	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.11857075267885E-6	0.024
18	3094307	A	T	18	3094309	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0010814924727681	0.188
18	3094308	T	A	18	3094310	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.16212622444636E-4	0.0
18	3094308	T	C	18	3094310	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.25721404776151E-5	0.004
18	3094308	T	G	18	3094310	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.35847645994765E-5	0.0
18	3094309	G	A	18	3094311	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.93649045129307E-5	0.0
18	3094309	G	C	18	3094311	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.99098773825043E-4	0.034
18	3094309	G	T	18	3094311	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.71224583643832E-5	0.016
18	3094310	A	C	18	3094312	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.5070578879058E-4	0.048
18	3094310	A	G	18	3094312	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.47084195669742E-5	0.002
18	3094310	A	T	18	3094312	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.20418327306121E-4	0.066
18	3094311	A	C	18	3094313	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00599951105839387	0.116
18	3094311	A	G	18	3094313	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.50063387268175E-4	0.006
18	3094311	A	T	18	3094313	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00376402322474519	0.12
18	3094312	A	C	18	3094314	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.32022643545009E-4	0.048
18	3094312	A	G	18	3094314	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.92602788290152E-5	0.0
18	3094312	A	T	18	3094314	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00244994641790707	0.046
18	3094313	A	C	18	3094315	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00192752792002256	0.286
18	3094313	A	G	18	3094315	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.06040547855624E-4	0.026
18	3094313	A	T	18	3094315	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00191023265724649	0.296
18	3094314	G	A	18	3094316	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.88522680711788E-6	0.0
18	3094314	G	C	18	3094316	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.980502668560747	0.954
18	3094314	G	T	18	3094316	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.72054340027202E-5	0.032
18	3094315	T	A	18	3094317	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.26963437323547E-4	0.126
18	3094315	T	C	18	3094317	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.87876037892954E-5	0.0
18	3094315	T	G	18	3094317	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.89093060740382E-5	0.018
18	3094316	A	C	18	3094318	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.88905130536694E-4	0.226
18	3094316	A	G	18	3094318	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.2332897580628E-4	0.028
18	3094316	A	T	18	3094318	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.96585190851733E-4	0.18
18	3100149	A	C	18	3100151	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.8277711908069E-5	0.0
18	3100149	A	G	18	3100151	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.35102045741773E-5	0.0
18	3100149	A	T	18	3100151	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.63464661362045E-5	0.0
18	3100150	T	A	18	3100152	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.77457243820827E-5	0.0
18	3100150	T	C	18	3100152	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.53929084429736E-6	0.0
18	3100150	T	G	18	3100152	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.53929084429736E-6	0.0
18	3100151	A	C	18	3100153	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0701589727378824	0.488
18	3100151	A	G	18	3100153	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.446335399905795	0.586
18	3100151	A	T	18	3100153	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.490795876375503	0.506
18	3100152	C	A	18	3100154	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999850268913118	0.882
18	3100152	C	G	18	3100154	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99952994214714	0.83
18	3100152	C	T	18	3100154	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999366082462631	0.898
18	3100153	T	A	18	3100155	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.408990890437075	0.51
18	3100153	T	C	18	3100155	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.769026052879395	0.64
18	3100153	T	G	18	3100155	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.771912072062117	0.534
18	3100154	T	A	18	3100156	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.972166515049375	0.688
18	3100154	T	C	18	3100156	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0210576137539044	0.18
18	3100154	T	G	18	3100156	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998688742929041	0.854
18	3100155	A	C	18	3100157	y	y	splicing	MYOM1(NM_019856:exon25:c.3439+2T>G;NM_003803:exon26:c.3727+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3727+2T>G;ENST00000356443:exon26:c.3727+2T>G;ENST00000261606:exon25:c.3439+2T>G)	.	.	0.999964896440643	0.936
18	3100155	A	G	18	3100157	y	y	splicing	MYOM1(NM_019856:exon25:c.3439+2T>C;NM_003803:exon26:c.3727+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3727+2T>C;ENST00000356443:exon26:c.3727+2T>C;ENST00000261606:exon25:c.3439+2T>C)	.	.	0.979932260224936	0.68
18	3100155	A	T	18	3100157	y	y	splicing	MYOM1(NM_019856:exon25:c.3439+2T>A;NM_003803:exon26:c.3727+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3727+2T>A;ENST00000356443:exon26:c.3727+2T>A;ENST00000261606:exon25:c.3439+2T>A)	.	.	0.999964896440643	0.938
18	3100156	C	A	18	3100158	y	y	splicing	MYOM1(NM_019856:exon25:c.3439+1G>T;NM_003803:exon26:c.3727+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3727+1G>T;ENST00000356443:exon26:c.3727+1G>T;ENST00000261606:exon25:c.3439+1G>T)	.	.	0.99995586615188	0.94
18	3100156	C	G	18	3100158	y	y	splicing	MYOM1(NM_019856:exon25:c.3439+1G>C;NM_003803:exon26:c.3727+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3727+1G>C;ENST00000356443:exon26:c.3727+1G>C;ENST00000261606:exon25:c.3439+1G>C)	.	.	0.999971209564868	0.938
18	3100156	C	T	18	3100158	y	y	splicing	MYOM1(NM_019856:exon25:c.3439+1G>A;NM_003803:exon26:c.3727+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3727+1G>A;ENST00000356443:exon26:c.3727+1G>A;ENST00000261606:exon25:c.3439+1G>A)	.	.	0.99995586615188	0.912
18	3100157	T	A	18	3100159	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.A3439T:p.T1147S;MYOM1:NM_003803:exon25:c.A3727T:p.T1243S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3727T:p.T1243S;ENSG00000101605:ENST00000400569:exon25:c.A3727T:p.T1243S;ENSG00000101605:ENST00000261606:exon24:c.A3439T:p.T1147S;	4.05814213364299E-4	0.092
18	3100157	T	C	18	3100159	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.A3439G:p.T1147A;MYOM1:NM_003803:exon25:c.A3727G:p.T1243A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3727G:p.T1243A;ENSG00000101605:ENST00000400569:exon25:c.A3727G:p.T1243A;ENSG00000101605:ENST00000261606:exon24:c.A3439G:p.T1147A;	4.2368002561492E-5	0.03
18	3100157	T	G	18	3100159	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.A3439C:p.T1147P;MYOM1:NM_003803:exon25:c.A3727C:p.T1243P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3727C:p.T1243P;ENSG00000101605:ENST00000400569:exon25:c.A3727C:p.T1243P;ENSG00000101605:ENST00000261606:exon24:c.A3439C:p.T1147P;	2.25626919271483E-4	0.036
18	3100158	T	A	18	3100160	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon24:c.A3438T:p.P1146P;MYOM1:NM_003803:exon25:c.A3726T:p.P1242P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3726T:p.P1242P;ENSG00000101605:ENST00000400569:exon25:c.A3726T:p.P1242P;ENSG00000101605:ENST00000261606:exon24:c.A3438T:p.P1146P;	0.222605009789314	0.532
18	3100158	T	C	18	3100160	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon24:c.A3438G:p.P1146P;MYOM1:NM_003803:exon25:c.A3726G:p.P1242P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3726G:p.P1242P;ENSG00000101605:ENST00000400569:exon25:c.A3726G:p.P1242P;ENSG00000101605:ENST00000261606:exon24:c.A3438G:p.P1146P;	0.0704269129550008	0.282
18	3100158	T	G	18	3100160	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon24:c.A3438C:p.P1146P;MYOM1:NM_003803:exon25:c.A3726C:p.P1242P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3726C:p.P1242P;ENSG00000101605:ENST00000400569:exon25:c.A3726C:p.P1242P;ENSG00000101605:ENST00000261606:exon24:c.A3438C:p.P1146P;	0.178678806104849	0.544
18	3100159	G	A	18	3100161	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.C3437T:p.P1146L;MYOM1:NM_003803:exon25:c.C3725T:p.P1242L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.C3725T:p.P1242L;ENSG00000101605:ENST00000400569:exon25:c.C3725T:p.P1242L;ENSG00000101605:ENST00000261606:exon24:c.C3437T:p.P1146L;	0.999261359563907	0.878
18	3100159	G	C	18	3100161	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.C3437G:p.P1146R;MYOM1:NM_003803:exon25:c.C3725G:p.P1242R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.C3725G:p.P1242R;ENSG00000101605:ENST00000400569:exon25:c.C3725G:p.P1242R;ENSG00000101605:ENST00000261606:exon24:c.C3437G:p.P1146R;	0.898146437462753	0.546
18	3100159	G	T	18	3100161	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.C3437A:p.P1146Q;MYOM1:NM_003803:exon25:c.C3725A:p.P1242Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.C3725A:p.P1242Q;ENSG00000101605:ENST00000400569:exon25:c.C3725A:p.P1242Q;ENSG00000101605:ENST00000261606:exon24:c.C3437A:p.P1146Q;	0.942299814995705	0.694
18	3100200	T	A	18	3100202	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.A3396T:p.E1132D;MYOM1:NM_003803:exon25:c.A3684T:p.E1228D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3684T:p.E1228D;ENSG00000101605:ENST00000400569:exon25:c.A3684T:p.E1228D;ENSG00000101605:ENST00000261606:exon24:c.A3396T:p.E1132D;	2.59573991667709E-5	0.0
18	3100200	T	C	18	3100202	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon24:c.A3396G:p.E1132E;MYOM1:NM_003803:exon25:c.A3684G:p.E1228E;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3684G:p.E1228E;ENSG00000101605:ENST00000400569:exon25:c.A3684G:p.E1228E;ENSG00000101605:ENST00000261606:exon24:c.A3396G:p.E1132E;	2.60054627879526E-5	0.016
18	3100200	T	G	18	3100202	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.A3396C:p.E1132D;MYOM1:NM_003803:exon25:c.A3684C:p.E1228D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3684C:p.E1228D;ENSG00000101605:ENST00000400569:exon25:c.A3684C:p.E1228D;ENSG00000101605:ENST00000261606:exon24:c.A3396C:p.E1132D;	7.23078336543701E-5	0.002
18	3100201	T	A	18	3100203	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.A3395T:p.E1132V;MYOM1:NM_003803:exon25:c.A3683T:p.E1228V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3683T:p.E1228V;ENSG00000101605:ENST00000400569:exon25:c.A3683T:p.E1228V;ENSG00000101605:ENST00000261606:exon24:c.A3395T:p.E1132V;	0.534106097478809	0.524
18	3100201	T	C	18	3100203	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.A3395G:p.E1132G;MYOM1:NM_003803:exon25:c.A3683G:p.E1228G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3683G:p.E1228G;ENSG00000101605:ENST00000400569:exon25:c.A3683G:p.E1228G;ENSG00000101605:ENST00000261606:exon24:c.A3395G:p.E1132G;	0.00138143380924362	0.01
18	3100201	T	G	18	3100203	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon24:c.A3395C:p.E1132A;MYOM1:NM_003803:exon25:c.A3683C:p.E1228A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon25:c.A3683C:p.E1228A;ENSG00000101605:ENST00000400569:exon25:c.A3683C:p.E1228A;ENSG00000101605:ENST00000261606:exon24:c.A3395C:p.E1132A;	0.00259852502310909	0.124
18	3100202	C	A	18	3100204	y	y	splicing	MYOM1(NM_019856:exon25:c.3395-1G>T;NM_003803:exon26:c.3683-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3683-1G>T;ENST00000356443:exon26:c.3683-1G>T;ENST00000261606:exon25:c.3395-1G>T)	.	.	0.999976475802857	0.91
18	3100202	C	G	18	3100204	y	y	splicing	MYOM1(NM_019856:exon25:c.3395-1G>C;NM_003803:exon26:c.3683-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3683-1G>C;ENST00000356443:exon26:c.3683-1G>C;ENST00000261606:exon25:c.3395-1G>C)	.	.	0.999976475802857	0.908
18	3100202	C	T	18	3100204	y	y	splicing	MYOM1(NM_019856:exon25:c.3395-1G>A;NM_003803:exon26:c.3683-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3683-1G>A;ENST00000356443:exon26:c.3683-1G>A;ENST00000261606:exon25:c.3395-1G>A)	.	.	0.999960597114489	0.906
18	3100203	T	A	18	3100205	y	y	splicing	MYOM1(NM_019856:exon25:c.3395-2A>T;NM_003803:exon26:c.3683-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3683-2A>T;ENST00000356443:exon26:c.3683-2A>T;ENST00000261606:exon25:c.3395-2A>T)	.	.	0.999971317418422	0.898
18	3100203	T	C	18	3100205	y	y	splicing	MYOM1(NM_019856:exon25:c.3395-2A>G;NM_003803:exon26:c.3683-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3683-2A>G;ENST00000356443:exon26:c.3683-2A>G;ENST00000261606:exon25:c.3395-2A>G)	.	.	0.999972155025474	0.824
18	3100203	T	G	18	3100205	y	y	splicing	MYOM1(NM_019856:exon25:c.3395-2A>C;NM_003803:exon26:c.3683-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon26:c.3683-2A>C;ENST00000356443:exon26:c.3683-2A>C;ENST00000261606:exon25:c.3395-2A>C)	.	.	0.999972871252391	0.862
18	3100204	G	A	18	3100206	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0850596740134401	0.28
18	3100204	G	C	18	3100206	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999790286893622	0.876
18	3100204	G	T	18	3100206	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998942636614448	0.602
18	3100205	T	A	18	3100207	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.96411259332895E-5	0.024
18	3100205	T	C	18	3100207	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.91458119992192E-5	0.038
18	3100205	T	G	18	3100207	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.25070242632107E-5	0.022
18	3100206	A	C	18	3100208	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0154214506948915	0.222
18	3100206	A	G	18	3100208	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00126918889656163	0.054
18	3100206	A	T	18	3100208	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.013389611237585	0.252
18	3100207	G	A	18	3100209	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.0825015121795E-5	0.046
18	3100207	G	C	18	3100209	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.37083439858075E-4	0.154
18	3100207	G	T	18	3100209	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.53498620273505E-5	0.144
18	3100208	G	A	18	3100210	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.19486026524105E-5	0.016
18	3100208	G	C	18	3100210	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00222321998095238	0.178
18	3100208	G	T	18	3100210	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00280298851753537	0.18
18	3100209	G	A	18	3100211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.94434200672858E-5	0.014
18	3100209	G	C	18	3100211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.63499581788792E-4	0.034
18	3100209	G	T	18	3100211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.60094461230521E-4	0.034
18	3100210	G	A	18	3100212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.21946853154343E-5	0.002
18	3100210	G	C	18	3100212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.3397495003167E-4	0.01
18	3100210	G	T	18	3100212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.88045976972622E-5	0.01
18	3100211	G	A	18	3100213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.26848964498332E-5	0.0
18	3100211	G	C	18	3100213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.34264876578952E-5	0.006
18	3100211	G	T	18	3100213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.14517453205419E-4	0.004
18	3100212	A	C	18	3100214	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00111078567039642	0.168
18	3100212	A	G	18	3100214	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.00564983395422E-5	0.046
18	3100212	A	T	18	3100214	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00156737820392314	0.168
18	3100213	A	C	18	3100215	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.52514500881795E-4	0.196
18	3100213	A	G	18	3100215	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.33214884493117E-5	0.01
18	3100213	A	T	18	3100215	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.81080785187277E-4	0.238
18	3100310	A	C	18	3100312	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.62850261126439E-6	0.01
18	3100310	A	G	18	3100312	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.70467166229842E-6	0.01
18	3100310	A	T	18	3100312	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.17833868802641E-5	0.004
18	3100311	A	C	18	3100313	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.59360374706247E-5	0.002
18	3100311	A	G	18	3100313	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.59360374706247E-5	0.004
18	3100311	A	T	18	3100313	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.74359842730815E-4	0.008
18	3100312	A	C	18	3100314	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.97752643474888E-4	0.2
18	3100312	A	G	18	3100314	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00172878889346586	0.308
18	3100312	A	T	18	3100314	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00297647665442164	0.224
18	3100313	C	A	18	3100315	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.952328836568959	0.604
18	3100313	C	G	18	3100315	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.926272989992048	0.59
18	3100313	C	T	18	3100315	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.914900669815478	0.686
18	3100314	T	A	18	3100316	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0338286965447329	0.306
18	3100314	T	C	18	3100316	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0618526401577208	0.346
18	3100314	T	G	18	3100316	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0153695256974189	0.352
18	3100315	T	A	18	3100317	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.32764814390919	0.586
18	3100315	T	C	18	3100317	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00101071299506639	0.058
18	3100315	T	G	18	3100317	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.587014532656199	0.574
18	3100316	A	C	18	3100318	y	y	splicing	MYOM1(NM_019856:exon24:c.3394+2T>G;NM_003803:exon25:c.3682+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3682+2T>G;ENST00000356443:exon25:c.3682+2T>G;ENST00000261606:exon24:c.3394+2T>G)	.	.	0.999988247793601	0.932
18	3100316	A	G	18	3100318	y	y	splicing	MYOM1(NM_019856:exon24:c.3394+2T>C;NM_003803:exon25:c.3682+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3682+2T>C;ENST00000356443:exon25:c.3682+2T>C;ENST00000261606:exon24:c.3394+2T>C)	.	.	0.994877988051647	0.676
18	3100316	A	T	18	3100318	y	y	splicing	MYOM1(NM_019856:exon24:c.3394+2T>A;NM_003803:exon25:c.3682+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3682+2T>A;ENST00000356443:exon25:c.3682+2T>A;ENST00000261606:exon24:c.3394+2T>A)	.	.	0.999988247793601	0.932
18	3100317	C	A	18	3100319	y	y	splicing	MYOM1(NM_019856:exon24:c.3394+1G>T;NM_003803:exon25:c.3682+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3682+1G>T;ENST00000356443:exon25:c.3682+1G>T;ENST00000261606:exon24:c.3394+1G>T)	.	.	0.999990361384395	0.938
18	3100317	C	G	18	3100319	y	y	splicing	MYOM1(NM_019856:exon24:c.3394+1G>C;NM_003803:exon25:c.3682+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3682+1G>C;ENST00000356443:exon25:c.3682+1G>C;ENST00000261606:exon24:c.3394+1G>C)	.	.	0.999990361384395	0.938
18	3100317	C	T	18	3100319	y	y	splicing	MYOM1(NM_019856:exon24:c.3394+1G>A;NM_003803:exon25:c.3682+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3682+1G>A;ENST00000356443:exon25:c.3682+1G>A;ENST00000261606:exon24:c.3394+1G>A)	.	.	0.999990361384395	0.938
18	3100318	C	A	18	3100320	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon23:c.G3394T:p.E1132X;MYOM1:NM_003803:exon24:c.G3682T:p.E1228X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon24:c.G3682T:p.E1228X;ENSG00000101605:ENST00000400569:exon24:c.G3682T:p.E1228X;ENSG00000101605:ENST00000261606:exon23:c.G3394T:p.E1132X;	0.999864311174066	0.91
18	3100318	C	G	18	3100320	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.G3394C:p.E1132Q;MYOM1:NM_003803:exon24:c.G3682C:p.E1228Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.G3682C:p.E1228Q;ENSG00000101605:ENST00000400569:exon24:c.G3682C:p.E1228Q;ENSG00000101605:ENST00000261606:exon23:c.G3394C:p.E1132Q;	0.999611918666435	0.908
18	3100318	C	T	18	3100320	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.G3394A:p.E1132K;MYOM1:NM_003803:exon24:c.G3682A:p.E1228K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.G3682A:p.E1228K;ENSG00000101605:ENST00000400569:exon24:c.G3682A:p.E1228K;ENSG00000101605:ENST00000261606:exon23:c.G3394A:p.E1132K;	0.999824113420268	0.894
18	3100319	T	A	18	3100321	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.A3393T:p.E1131D;MYOM1:NM_003803:exon24:c.A3681T:p.E1227D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3681T:p.E1227D;ENSG00000101605:ENST00000400569:exon24:c.A3681T:p.E1227D;ENSG00000101605:ENST00000261606:exon23:c.A3393T:p.E1131D;	0.138107953903686	0.47
18	3100319	T	C	18	3100321	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon23:c.A3393G:p.E1131E;MYOM1:NM_003803:exon24:c.A3681G:p.E1227E;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3681G:p.E1227E;ENSG00000101605:ENST00000400569:exon24:c.A3681G:p.E1227E;ENSG00000101605:ENST00000261606:exon23:c.A3393G:p.E1131E;	0.0422305216146562	0.206
18	3100319	T	G	18	3100321	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.A3393C:p.E1131D;MYOM1:NM_003803:exon24:c.A3681C:p.E1227D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3681C:p.E1227D;ENSG00000101605:ENST00000400569:exon24:c.A3681C:p.E1227D;ENSG00000101605:ENST00000261606:exon23:c.A3393C:p.E1131D;	0.128070525727498	0.498
18	3100320	T	A	18	3100322	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.A3392T:p.E1131V;MYOM1:NM_003803:exon24:c.A3680T:p.E1227V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3680T:p.E1227V;ENSG00000101605:ENST00000400569:exon24:c.A3680T:p.E1227V;ENSG00000101605:ENST00000261606:exon23:c.A3392T:p.E1131V;	0.0380163722046326	0.208
18	3100320	T	C	18	3100322	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.A3392G:p.E1131G;MYOM1:NM_003803:exon24:c.A3680G:p.E1227G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3680G:p.E1227G;ENSG00000101605:ENST00000400569:exon24:c.A3680G:p.E1227G;ENSG00000101605:ENST00000261606:exon23:c.A3392G:p.E1131G;	0.0024559041363746	0.064
18	3100320	T	G	18	3100322	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.A3392C:p.E1131A;MYOM1:NM_003803:exon24:c.A3680C:p.E1227A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3680C:p.E1227A;ENSG00000101605:ENST00000400569:exon24:c.A3680C:p.E1227A;ENSG00000101605:ENST00000261606:exon23:c.A3392C:p.E1131A;	0.017273212648919	0.122
18	3100423	T	A	18	3100425	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.A3289T:p.T1097S;MYOM1:NM_003803:exon24:c.A3577T:p.T1193S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3577T:p.T1193S;ENSG00000101605:ENST00000400569:exon24:c.A3577T:p.T1193S;ENSG00000101605:ENST00000261606:exon23:c.A3289T:p.T1097S;	6.91989931754263E-5	0.022
18	3100423	T	C	18	3100425	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.A3289G:p.T1097A;MYOM1:NM_003803:exon24:c.A3577G:p.T1193A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3577G:p.T1193A;ENSG00000101605:ENST00000400569:exon24:c.A3577G:p.T1193A;ENSG00000101605:ENST00000261606:exon23:c.A3289G:p.T1097A;	0.0014157174275612	0.026
18	3100423	T	G	18	3100425	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.A3289C:p.T1097P;MYOM1:NM_003803:exon24:c.A3577C:p.T1193P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.A3577C:p.T1193P;ENSG00000101605:ENST00000400569:exon24:c.A3577C:p.T1193P;ENSG00000101605:ENST00000261606:exon23:c.A3289C:p.T1097P;	0.0268735121896963	0.112
18	3100424	C	A	18	3100426	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.G3288T:p.K1096N;MYOM1:NM_003803:exon24:c.G3576T:p.K1192N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.G3576T:p.K1192N;ENSG00000101605:ENST00000400569:exon24:c.G3576T:p.K1192N;ENSG00000101605:ENST00000261606:exon23:c.G3288T:p.K1096N;	0.999966907617699	0.99
18	3100424	C	G	18	3100426	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon23:c.G3288C:p.K1096N;MYOM1:NM_003803:exon24:c.G3576C:p.K1192N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.G3576C:p.K1192N;ENSG00000101605:ENST00000400569:exon24:c.G3576C:p.K1192N;ENSG00000101605:ENST00000261606:exon23:c.G3288C:p.K1096N;	0.999930851290274	0.95
18	3100424	C	T	18	3100426	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon23:c.G3288A:p.K1096K;MYOM1:NM_003803:exon24:c.G3576A:p.K1192K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon24:c.G3576A:p.K1192K;ENSG00000101605:ENST00000400569:exon24:c.G3576A:p.K1192K;ENSG00000101605:ENST00000261606:exon23:c.G3288A:p.K1096K;	0.950853259381983	0.604
18	3100425	C	A	18	3100427	y	y	splicing	MYOM1(NM_019856:exon24:c.3288-1G>T;NM_003803:exon25:c.3576-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3576-1G>T;ENST00000356443:exon25:c.3576-1G>T;ENST00000261606:exon24:c.3288-1G>T)	.	.	0.999989125585301	0.942
18	3100425	C	G	18	3100427	y	y	splicing	MYOM1(NM_019856:exon24:c.3288-1G>C;NM_003803:exon25:c.3576-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3576-1G>C;ENST00000356443:exon25:c.3576-1G>C;ENST00000261606:exon24:c.3288-1G>C)	.	.	0.999989125585301	0.942
18	3100425	C	T	18	3100427	y	y	splicing	MYOM1(NM_019856:exon24:c.3288-1G>A;NM_003803:exon25:c.3576-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3576-1G>A;ENST00000356443:exon25:c.3576-1G>A;ENST00000261606:exon24:c.3288-1G>A)	.	.	0.999989125585301	0.942
18	3100426	T	A	18	3100428	y	y	splicing	MYOM1(NM_019856:exon24:c.3288-2A>T;NM_003803:exon25:c.3576-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3576-2A>T;ENST00000356443:exon25:c.3576-2A>T;ENST00000261606:exon24:c.3288-2A>T)	.	.	0.99993872479901	0.934
18	3100426	T	C	18	3100428	y	y	splicing	MYOM1(NM_019856:exon24:c.3288-2A>G;NM_003803:exon25:c.3576-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3576-2A>G;ENST00000356443:exon25:c.3576-2A>G;ENST00000261606:exon24:c.3288-2A>G)	.	.	0.99993872479901	0.936
18	3100426	T	G	18	3100428	y	y	splicing	MYOM1(NM_019856:exon24:c.3288-2A>C;NM_003803:exon25:c.3576-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon25:c.3576-2A>C;ENST00000356443:exon25:c.3576-2A>C;ENST00000261606:exon24:c.3288-2A>C)	.	.	0.99993872479901	0.936
18	3100427	T	A	18	3100429	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.201291924522E-5	0.024
18	3100427	T	C	18	3100429	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0656618006425758	0.422
18	3100427	T	G	18	3100429	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.21659708601496E-5	0.092
18	3100428	C	A	18	3100430	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.77641482761434E-5	0.066
18	3100428	C	G	18	3100430	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.16033411556383E-5	0.206
18	3100428	C	T	18	3100430	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.28360314035375E-5	0.018
18	3100429	G	A	18	3100431	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.16078078590347E-5	0.0
18	3100429	G	C	18	3100431	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00186036840360056	0.156
18	3100429	G	T	18	3100431	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997964157295228	0.69
18	3100430	G	A	18	3100432	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.99897194346141E-5	0.044
18	3100430	G	C	18	3100432	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0110449248768853	0.286
18	3100430	G	T	18	3100432	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.010454435576466	0.282
18	3100431	A	C	18	3100433	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.943006956619713	0.666
18	3100431	A	G	18	3100433	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.65985137738064E-4	0.108
18	3100431	A	T	18	3100433	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.943006956619713	0.676
18	3100432	A	C	18	3100434	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.27233052545779E-4	0.264
18	3100432	A	G	18	3100434	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.30566522675115E-5	0.016
18	3100432	A	T	18	3100434	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.010893664060798	0.342
18	3100433	C	A	18	3100435	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.72992372791788E-5	0.0
18	3100433	C	G	18	3100435	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.24550461796131E-5	0.004
18	3100433	C	T	18	3100435	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.43779243657105E-5	0.01
18	3100434	A	C	18	3100436	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0508789411376384	0.258
18	3100434	A	G	18	3100436	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.22502981713236E-4	0.02
18	3100434	A	T	18	3100436	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998765861028093	0.95
18	3100435	A	C	18	3100437	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.122184157567051	0.492
18	3100435	A	G	18	3100437	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00445511227616082	0.15
18	3100435	A	T	18	3100437	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.687012664493279	0.454
18	3100436	A	C	18	3100438	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0132214724886061	0.238
18	3100436	A	G	18	3100438	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.11479410926871E-4	0.028
18	3100436	A	T	18	3100438	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00436738952269985	0.24
18	3102464	G	A	18	3102466	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.15266079249872E-5	0.002
18	3102464	G	C	18	3102466	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.11492329476486E-4	0.006
18	3102464	G	T	18	3102466	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.15322436038493E-4	0.004
18	3102465	T	A	18	3102467	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.15126853822366E-5	0.002
18	3102465	T	C	18	3102467	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.32341439655945E-5	0.002
18	3102465	T	G	18	3102467	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.20118645106669E-5	0.002
18	3102466	C	A	18	3102468	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.0319040997949E-5	0.016
18	3102466	C	G	18	3102468	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.78059385217372E-5	0.002
18	3102466	C	T	18	3102468	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.53615630279075E-4	0.0
18	3102467	C	A	18	3102469	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99998758415142	0.968
18	3102467	C	G	18	3102469	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999808353366872	0.93
18	3102467	C	T	18	3102469	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999962160082197	0.934
18	3102468	T	A	18	3102470	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.909596019457615	0.566
18	3102468	T	C	18	3102470	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.951511908537367	0.694
18	3102468	T	G	18	3102470	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.219940121962328	0.484
18	3102469	T	A	18	3102471	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998187137939371	0.878
18	3102469	T	C	18	3102471	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.301022453000923	0.36
18	3102469	T	G	18	3102471	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997404978906141	0.858
18	3102470	A	C	18	3102472	y	y	splicing	MYOM1(NM_019856:exon23:c.3287+2T>G;NM_003803:exon24:c.3575+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3575+2T>G;ENST00000356443:exon24:c.3575+2T>G;ENST00000261606:exon23:c.3287+2T>G)	.	.	0.999989917668626	0.924
18	3102470	A	G	18	3102472	y	y	splicing	MYOM1(NM_019856:exon23:c.3287+2T>C;NM_003803:exon24:c.3575+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3575+2T>C;ENST00000356443:exon24:c.3575+2T>C;ENST00000261606:exon23:c.3287+2T>C)	.	.	0.994942110059878	0.616
18	3102470	A	T	18	3102472	y	y	splicing	MYOM1(NM_019856:exon23:c.3287+2T>A;NM_003803:exon24:c.3575+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3575+2T>A;ENST00000356443:exon24:c.3575+2T>A;ENST00000261606:exon23:c.3287+2T>A)	.	.	0.999989917668626	0.924
18	3102471	C	A	18	3102473	y	y	splicing	MYOM1(NM_019856:exon23:c.3287+1G>T;NM_003803:exon24:c.3575+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3575+1G>T;ENST00000356443:exon24:c.3575+1G>T;ENST00000261606:exon23:c.3287+1G>T)	.	.	0.999986675681007	0.932
18	3102471	C	G	18	3102473	y	y	splicing	MYOM1(NM_019856:exon23:c.3287+1G>C;NM_003803:exon24:c.3575+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3575+1G>C;ENST00000356443:exon24:c.3575+1G>C;ENST00000261606:exon23:c.3287+1G>C)	.	.	0.999986675681007	0.932
18	3102471	C	T	18	3102473	y	y	splicing	MYOM1(NM_019856:exon23:c.3287+1G>A;NM_003803:exon24:c.3575+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3575+1G>A;ENST00000356443:exon24:c.3575+1G>A;ENST00000261606:exon23:c.3287+1G>A)	.	.	0.999986675681007	0.932
18	3102472	T	A	18	3102474	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.A3287T:p.K1096M;MYOM1:NM_003803:exon23:c.A3575T:p.K1192M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.A3575T:p.K1192M;ENSG00000101605:ENST00000400569:exon23:c.A3575T:p.K1192M;ENSG00000101605:ENST00000261606:exon22:c.A3287T:p.K1096M;	0.622935152668405	0.5
18	3102472	T	C	18	3102474	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.A3287G:p.K1096R;MYOM1:NM_003803:exon23:c.A3575G:p.K1192R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.A3575G:p.K1192R;ENSG00000101605:ENST00000400569:exon23:c.A3575G:p.K1192R;ENSG00000101605:ENST00000261606:exon22:c.A3287G:p.K1096R;	0.00305368299702664	0.098
18	3102472	T	G	18	3102474	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.A3287C:p.K1096T;MYOM1:NM_003803:exon23:c.A3575C:p.K1192T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.A3575C:p.K1192T;ENSG00000101605:ENST00000400569:exon23:c.A3575C:p.K1192T;ENSG00000101605:ENST00000261606:exon22:c.A3287C:p.K1096T;	0.599638085894551	0.674
18	3102473	T	A	18	3102475	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon22:c.A3286T:p.K1096X;MYOM1:NM_003803:exon23:c.A3574T:p.K1192X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon23:c.A3574T:p.K1192X;ENSG00000101605:ENST00000400569:exon23:c.A3574T:p.K1192X;ENSG00000101605:ENST00000261606:exon22:c.A3286T:p.K1096X;	0.999851526292828	0.998
18	3102473	T	C	18	3102475	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.A3286G:p.K1096E;MYOM1:NM_003803:exon23:c.A3574G:p.K1192E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.A3574G:p.K1192E;ENSG00000101605:ENST00000400569:exon23:c.A3574G:p.K1192E;ENSG00000101605:ENST00000261606:exon22:c.A3286G:p.K1096E;	0.999405780374407	0.968
18	3102473	T	G	18	3102475	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.A3286C:p.K1096Q;MYOM1:NM_003803:exon23:c.A3574C:p.K1192Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.A3574C:p.K1192Q;ENSG00000101605:ENST00000400569:exon23:c.A3574C:p.K1192Q;ENSG00000101605:ENST00000261606:exon22:c.A3286C:p.K1096Q;	0.999677785786202	0.988
18	3102474	G	A	18	3102476	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon22:c.C3285T:p.N1095N;MYOM1:NM_003803:exon23:c.C3573T:p.N1191N;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.C3573T:p.N1191N;ENSG00000101605:ENST00000400569:exon23:c.C3573T:p.N1191N;ENSG00000101605:ENST00000261606:exon22:c.C3285T:p.N1095N;	0.684013248275987	0.404
18	3102474	G	C	18	3102476	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.C3285G:p.N1095K;MYOM1:NM_003803:exon23:c.C3573G:p.N1191K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.C3573G:p.N1191K;ENSG00000101605:ENST00000400569:exon23:c.C3573G:p.N1191K;ENSG00000101605:ENST00000261606:exon22:c.C3285G:p.N1095K;	0.00241143109300709	0.148
18	3102474	G	T	18	3102476	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.C3285A:p.N1095K;MYOM1:NM_003803:exon23:c.C3573A:p.N1191K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.C3573A:p.N1191K;ENSG00000101605:ENST00000400569:exon23:c.C3573A:p.N1191K;ENSG00000101605:ENST00000261606:exon22:c.C3285A:p.N1095K;	0.00242825027901957	0.058
18	3102627	T	A	18	3102629	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon22:c.A3132T:p.G1044G;MYOM1:NM_003803:exon23:c.A3420T:p.G1140G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.A3420T:p.G1140G;ENSG00000101605:ENST00000400569:exon23:c.A3420T:p.G1140G;ENSG00000101605:ENST00000261606:exon22:c.A3132T:p.G1044G;	1.94664278657651E-4	0.0
18	3102627	T	C	18	3102629	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon22:c.A3132G:p.G1044G;MYOM1:NM_003803:exon23:c.A3420G:p.G1140G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.A3420G:p.G1140G;ENSG00000101605:ENST00000400569:exon23:c.A3420G:p.G1140G;ENSG00000101605:ENST00000261606:exon22:c.A3132G:p.G1044G;	1.59752288859425E-4	0.01
18	3102627	T	G	18	3102629	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon22:c.A3132C:p.G1044G;MYOM1:NM_003803:exon23:c.A3420C:p.G1140G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.A3420C:p.G1140G;ENSG00000101605:ENST00000400569:exon23:c.A3420C:p.G1140G;ENSG00000101605:ENST00000261606:exon22:c.A3132C:p.G1044G;	2.21733421529768E-4	0.014
18	3102628	C	A	18	3102630	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.G3131T:p.G1044V;MYOM1:NM_003803:exon23:c.G3419T:p.G1140V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.G3419T:p.G1140V;ENSG00000101605:ENST00000400569:exon23:c.G3419T:p.G1140V;ENSG00000101605:ENST00000261606:exon22:c.G3131T:p.G1044V;	0.999831157719883	0.984
18	3102628	C	G	18	3102630	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.G3131C:p.G1044A;MYOM1:NM_003803:exon23:c.G3419C:p.G1140A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.G3419C:p.G1140A;ENSG00000101605:ENST00000400569:exon23:c.G3419C:p.G1140A;ENSG00000101605:ENST00000261606:exon22:c.G3131C:p.G1044A;	0.999646069622652	0.982
18	3102628	C	T	18	3102630	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon22:c.G3131A:p.G1044E;MYOM1:NM_003803:exon23:c.G3419A:p.G1140E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon23:c.G3419A:p.G1140E;ENSG00000101605:ENST00000400569:exon23:c.G3419A:p.G1140E;ENSG00000101605:ENST00000261606:exon22:c.G3131A:p.G1044E;	0.999471707095735	0.904
18	3102629	C	A	18	3102631	y	y	splicing	MYOM1(NM_019856:exon23:c.3131-1G>T;NM_003803:exon24:c.3419-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3419-1G>T;ENST00000356443:exon24:c.3419-1G>T;ENST00000261606:exon23:c.3131-1G>T)	.	.	0.999986675681007	0.932
18	3102629	C	G	18	3102631	y	y	splicing	MYOM1(NM_019856:exon23:c.3131-1G>C;NM_003803:exon24:c.3419-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3419-1G>C;ENST00000356443:exon24:c.3419-1G>C;ENST00000261606:exon23:c.3131-1G>C)	.	.	0.999976137096505	0.932
18	3102629	C	T	18	3102631	y	y	splicing	MYOM1(NM_019856:exon23:c.3131-1G>A;NM_003803:exon24:c.3419-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3419-1G>A;ENST00000356443:exon24:c.3419-1G>A;ENST00000261606:exon23:c.3131-1G>A)	.	.	0.999986675681007	0.932
18	3102630	T	A	18	3102632	y	y	splicing	MYOM1(NM_019856:exon23:c.3131-2A>T;NM_003803:exon24:c.3419-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3419-2A>T;ENST00000356443:exon24:c.3419-2A>T;ENST00000261606:exon23:c.3131-2A>T)	.	.	0.99994568797423	0.938
18	3102630	T	C	18	3102632	y	y	splicing	MYOM1(NM_019856:exon23:c.3131-2A>G;NM_003803:exon24:c.3419-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3419-2A>G;ENST00000356443:exon24:c.3419-2A>G;ENST00000261606:exon23:c.3131-2A>G)	.	.	0.99994568797423	0.944
18	3102630	T	G	18	3102632	y	y	splicing	MYOM1(NM_019856:exon23:c.3131-2A>C;NM_003803:exon24:c.3419-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon24:c.3419-2A>C;ENST00000356443:exon24:c.3419-2A>C;ENST00000261606:exon23:c.3131-2A>C)	.	.	0.99994568797423	0.944
18	3102631	A	C	18	3102633	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.993641984574646	0.594
18	3102631	A	G	18	3102633	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.27206491634347E-4	0.038
18	3102631	A	T	18	3102633	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0100101534678337	0.338
18	3102632	C	A	18	3102634	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.78383280790272E-6	0.012
18	3102632	C	G	18	3102634	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.17277154064076E-6	0.01
18	3102632	C	T	18	3102634	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.69306919314571E-6	0.008
18	3102633	A	C	18	3102635	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.635564934972097	0.372
18	3102633	A	G	18	3102635	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.81924174177477E-4	0.006
18	3102633	A	T	18	3102635	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998754041087952	0.908
18	3102634	A	C	18	3102636	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0299452928547372	0.372
18	3102634	A	G	18	3102636	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.94839240606954E-5	0.03
18	3102634	A	T	18	3102636	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0656417877954523	0.344
18	3102635	G	A	18	3102637	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.40953298838274E-5	0.034
18	3102635	G	C	18	3102637	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0042494421338701	0.09
18	3102635	G	T	18	3102637	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00597195143073482	0.126
18	3102636	A	C	18	3102638	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99942136754205	0.968
18	3102636	A	G	18	3102638	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.02384973712876E-5	0.012
18	3102636	A	T	18	3102638	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00290897486940008	0.114
18	3102637	T	A	18	3102639	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.00956759274151E-4	0.002
18	3102637	T	C	18	3102639	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.07889683314273E-5	0.006
18	3102637	T	G	18	3102639	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.2501778620416E-4	0.004
18	3102638	C	A	18	3102640	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.02754041143724E-5	0.0
18	3102638	C	G	18	3102640	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.90396441272181E-5	0.0
18	3102638	C	T	18	3102640	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.36770276770037E-5	0.002
18	3102639	A	C	18	3102641	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.523253052273119	0.428
18	3102639	A	G	18	3102641	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.57324783639763E-4	0.05
18	3102639	A	T	18	3102641	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999792630041653	0.896
18	3102640	A	C	18	3102642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0783992534260835	0.274
18	3102640	A	G	18	3102642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.9134396442162E-5	0.008
18	3102640	A	T	18	3102642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0594169922263803	0.28
18	3112288	A	C	18	3112290	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.70275340779275E-5	0.0
18	3112288	A	G	18	3112290	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.13511005548649E-4	0.0
18	3112288	A	T	18	3112290	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.01695386465493E-4	0.004
18	3112289	A	C	18	3112291	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.75029170818947E-5	0.0
18	3112289	A	G	18	3112291	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.51403784937142E-4	0.0
18	3112289	A	T	18	3112291	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.33043260327965E-5	0.0
18	3112290	G	A	18	3112292	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.06236867102655E-5	0.006
18	3112290	G	C	18	3112292	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.35965390670226E-4	0.064
18	3112290	G	T	18	3112292	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.82656328779994E-4	0.072
18	3112291	C	A	18	3112293	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999984011974236	0.95
18	3112291	C	G	18	3112293	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999002608432853	0.866
18	3112291	C	T	18	3112293	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999259826675135	0.872
18	3112292	C	A	18	3112294	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.12459592914385E-4	0.042
18	3112292	C	G	18	3112294	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.89373976323635E-5	0.022
18	3112292	C	T	18	3112294	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.92060227445025E-4	0.072
18	3112293	C	A	18	3112295	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0726814842967932	0.368
18	3112293	C	G	18	3112295	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0125661857965272	0.374
18	3112293	C	T	18	3112295	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.11262182778067E-4	0.124
18	3112294	A	C	18	3112296	y	y	splicing	MYOM1(NM_019856:exon22:c.3130+2T>G;NM_003803:exon23:c.3418+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3418+2T>G;ENST00000356443:exon23:c.3418+2T>G;ENST00000261606:exon22:c.3130+2T>G)	.	.	0.999946188727699	0.94
18	3112294	A	G	18	3112296	y	y	splicing	MYOM1(NM_019856:exon22:c.3130+2T>C;NM_003803:exon23:c.3418+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3418+2T>C;ENST00000356443:exon23:c.3418+2T>C;ENST00000261606:exon22:c.3130+2T>C)	.	.	0.999786373997992	0.92
18	3112294	A	T	18	3112296	y	y	splicing	MYOM1(NM_019856:exon22:c.3130+2T>A;NM_003803:exon23:c.3418+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3418+2T>A;ENST00000356443:exon23:c.3418+2T>A;ENST00000261606:exon22:c.3130+2T>A)	.	.	0.999946188727699	0.962
18	3112295	C	A	18	3112297	y	y	splicing	MYOM1(NM_019856:exon22:c.3130+1G>T;NM_003803:exon23:c.3418+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3418+1G>T;ENST00000356443:exon23:c.3418+1G>T;ENST00000261606:exon22:c.3130+1G>T)	.	.	0.99995586615188	0.956
18	3112295	C	G	18	3112297	y	y	splicing	MYOM1(NM_019856:exon22:c.3130+1G>C;NM_003803:exon23:c.3418+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3418+1G>C;ENST00000356443:exon23:c.3418+1G>C;ENST00000261606:exon22:c.3130+1G>C)	.	.	0.99995586615188	0.956
18	3112295	C	T	18	3112297	y	y	splicing	MYOM1(NM_019856:exon22:c.3130+1G>A;NM_003803:exon23:c.3418+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3418+1G>A;ENST00000356443:exon23:c.3418+1G>A;ENST00000261606:exon22:c.3130+1G>A)	.	.	0.99995545544995	0.956
18	3112296	C	A	18	3112298	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon21:c.G3130T:p.G1044X;MYOM1:NM_003803:exon22:c.G3418T:p.G1140X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon22:c.G3418T:p.G1140X;ENSG00000101605:ENST00000400569:exon22:c.G3418T:p.G1140X;ENSG00000101605:ENST00000261606:exon21:c.G3130T:p.G1044X;	0.999991239447877	0.98
18	3112296	C	G	18	3112298	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.G3130C:p.G1044R;MYOM1:NM_003803:exon22:c.G3418C:p.G1140R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.G3418C:p.G1140R;ENSG00000101605:ENST00000400569:exon22:c.G3418C:p.G1140R;ENSG00000101605:ENST00000261606:exon21:c.G3130C:p.G1044R;	0.999997643939171	1.0
18	3112296	C	T	18	3112298	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.G3130A:p.G1044R;MYOM1:NM_003803:exon22:c.G3418A:p.G1140R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.G3418A:p.G1140R;ENSG00000101605:ENST00000400569:exon22:c.G3418A:p.G1140R;ENSG00000101605:ENST00000261606:exon21:c.G3130A:p.G1044R;	0.999995680989029	1.0
18	3112297	T	A	18	3112299	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon21:c.A3129T:p.P1043P;MYOM1:NM_003803:exon22:c.A3417T:p.P1139P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.A3417T:p.P1139P;ENSG00000101605:ENST00000400569:exon22:c.A3417T:p.P1139P;ENSG00000101605:ENST00000261606:exon21:c.A3129T:p.P1043P;	0.996912179802367	0.766
18	3112297	T	C	18	3112299	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon21:c.A3129G:p.P1043P;MYOM1:NM_003803:exon22:c.A3417G:p.P1139P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.A3417G:p.P1139P;ENSG00000101605:ENST00000400569:exon22:c.A3417G:p.P1139P;ENSG00000101605:ENST00000261606:exon21:c.A3129G:p.P1043P;	0.994741056171344	0.752
18	3112297	T	G	18	3112299	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon21:c.A3129C:p.P1043P;MYOM1:NM_003803:exon22:c.A3417C:p.P1139P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.A3417C:p.P1139P;ENSG00000101605:ENST00000400569:exon22:c.A3417C:p.P1139P;ENSG00000101605:ENST00000261606:exon21:c.A3129C:p.P1043P;	0.835416872204684	0.568
18	3112298	G	A	18	3112300	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.C3128T:p.P1043L;MYOM1:NM_003803:exon22:c.C3416T:p.P1139L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.C3416T:p.P1139L;ENSG00000101605:ENST00000400569:exon22:c.C3416T:p.P1139L;ENSG00000101605:ENST00000261606:exon21:c.C3128T:p.P1043L;	0.99987205828591	0.984
18	3112298	G	C	18	3112300	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.C3128G:p.P1043R;MYOM1:NM_003803:exon22:c.C3416G:p.P1139R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.C3416G:p.P1139R;ENSG00000101605:ENST00000400569:exon22:c.C3416G:p.P1139R;ENSG00000101605:ENST00000261606:exon21:c.C3128G:p.P1043R;	0.978773471971001	0.712
18	3112298	G	T	18	3112300	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.C3128A:p.P1043Q;MYOM1:NM_003803:exon22:c.C3416A:p.P1139Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.C3416A:p.P1139Q;ENSG00000101605:ENST00000400569:exon22:c.C3416A:p.P1139Q;ENSG00000101605:ENST00000261606:exon21:c.C3128A:p.P1043Q;	0.956938634592125	0.7
18	3112409	A	C	18	3112411	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.T3017G:p.V1006G;MYOM1:NM_003803:exon22:c.T3305G:p.V1102G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.T3305G:p.V1102G;ENSG00000101605:ENST00000400569:exon22:c.T3305G:p.V1102G;ENSG00000101605:ENST00000261606:exon21:c.T3017G:p.V1006G;	0.828328834723127	0.58
18	3112409	A	G	18	3112411	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.T3017C:p.V1006A;MYOM1:NM_003803:exon22:c.T3305C:p.V1102A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.T3305C:p.V1102A;ENSG00000101605:ENST00000400569:exon22:c.T3305C:p.V1102A;ENSG00000101605:ENST00000261606:exon21:c.T3017C:p.V1006A;	0.840229011525914	0.634
18	3112409	A	T	18	3112411	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.T3017A:p.V1006D;MYOM1:NM_003803:exon22:c.T3305A:p.V1102D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.T3305A:p.V1102D;ENSG00000101605:ENST00000400569:exon22:c.T3305A:p.V1102D;ENSG00000101605:ENST00000261606:exon21:c.T3017A:p.V1006D;	0.782725126025734	0.596
18	3112410	C	A	18	3112412	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.G3016T:p.V1006F;MYOM1:NM_003803:exon22:c.G3304T:p.V1102F;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.G3304T:p.V1102F;ENSG00000101605:ENST00000400569:exon22:c.G3304T:p.V1102F;ENSG00000101605:ENST00000261606:exon21:c.G3016T:p.V1006F;	0.999908259910869	0.99
18	3112410	C	G	18	3112412	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.G3016C:p.V1006L;MYOM1:NM_003803:exon22:c.G3304C:p.V1102L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.G3304C:p.V1102L;ENSG00000101605:ENST00000400569:exon22:c.G3304C:p.V1102L;ENSG00000101605:ENST00000261606:exon21:c.G3016C:p.V1006L;	0.999907541677331	0.98
18	3112410	C	T	18	3112412	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon21:c.G3016A:p.V1006I;MYOM1:NM_003803:exon22:c.G3304A:p.V1102I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon22:c.G3304A:p.V1102I;ENSG00000101605:ENST00000400569:exon22:c.G3304A:p.V1102I;ENSG00000101605:ENST00000261606:exon21:c.G3016A:p.V1006I;	0.940376186434486	0.642
18	3112411	C	A	18	3112413	y	y	splicing	MYOM1(NM_019856:exon22:c.3016-1G>T;NM_003803:exon23:c.3304-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3304-1G>T;ENST00000356443:exon23:c.3304-1G>T;ENST00000261606:exon22:c.3016-1G>T)	.	.	0.999990361384395	0.936
18	3112411	C	G	18	3112413	y	y	splicing	MYOM1(NM_019856:exon22:c.3016-1G>C;NM_003803:exon23:c.3304-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3304-1G>C;ENST00000356443:exon23:c.3304-1G>C;ENST00000261606:exon22:c.3016-1G>C)	.	.	0.999990361384395	0.936
18	3112411	C	T	18	3112413	y	y	splicing	MYOM1(NM_019856:exon22:c.3016-1G>A;NM_003803:exon23:c.3304-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3304-1G>A;ENST00000356443:exon23:c.3304-1G>A;ENST00000261606:exon22:c.3016-1G>A)	.	.	0.999990361384395	0.936
18	3112412	T	A	18	3112414	y	y	splicing	MYOM1(NM_019856:exon22:c.3016-2A>T;NM_003803:exon23:c.3304-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3304-2A>T;ENST00000356443:exon23:c.3304-2A>T;ENST00000261606:exon22:c.3016-2A>T)	.	.	0.999988247793601	0.926
18	3112412	T	C	18	3112414	y	y	splicing	MYOM1(NM_019856:exon22:c.3016-2A>G;NM_003803:exon23:c.3304-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3304-2A>G;ENST00000356443:exon23:c.3304-2A>G;ENST00000261606:exon22:c.3016-2A>G)	.	.	0.999988247793601	0.926
18	3112412	T	G	18	3112414	y	y	splicing	MYOM1(NM_019856:exon22:c.3016-2A>C;NM_003803:exon23:c.3304-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon23:c.3304-2A>C;ENST00000356443:exon23:c.3304-2A>C;ENST00000261606:exon22:c.3016-2A>C)	.	.	0.999988247793601	0.926
18	3112413	G	A	18	3112415	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0211933637586905	0.164
18	3112413	G	C	18	3112415	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999572197979567	0.946
18	3112413	G	T	18	3112415	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999858958474938	0.832
18	3112414	G	A	18	3112416	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.52276608712576E-5	0.0
18	3112414	G	C	18	3112416	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.365734061024376	0.402
18	3112414	G	T	18	3112416	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.52276608712576E-5	0.0
18	3112415	T	A	18	3112417	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.15391624149582E-6	0.0
18	3112415	T	C	18	3112417	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.5729395572873E-5	0.018
18	3112415	T	G	18	3112417	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.25145799745218E-6	0.004
18	3112416	A	C	18	3112418	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.512078157870821	0.53
18	3112416	A	G	18	3112418	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.17900373473618E-4	0.006
18	3112416	A	T	18	3112418	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0276931270451965	0.41
18	3112417	G	A	18	3112419	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.36376057529501E-5	0.012
18	3112417	G	C	18	3112419	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00274225605010378	0.16
18	3112417	G	T	18	3112419	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00827291450803447	0.134
18	3112418	A	C	18	3112420	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0315320883046987	0.33
18	3112418	A	G	18	3112420	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.42392177483518E-5	0.002
18	3112418	A	T	18	3112420	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.1216997601989	0.32
18	3112419	A	C	18	3112421	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.724680964715083	0.552
18	3112419	A	G	18	3112421	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00103532779415818	0.06
18	3112419	A	T	18	3112421	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.789877594999141	0.54
18	3112420	G	A	18	3112422	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.81168101526073E-5	0.0
18	3112420	G	C	18	3112422	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00171878349014049	0.054
18	3112420	G	T	18	3112422	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00473903017625178	0.128
18	3112421	C	A	18	3112423	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.17926894298873E-5	0.022
18	3112421	C	G	18	3112423	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.89401456352119E-5	0.008
18	3112421	C	T	18	3112423	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.36580399983379E-4	0.002
18	3112422	A	C	18	3112424	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.467454975574146	0.426
18	3112422	A	G	18	3112424	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00105108211439551	0.068
18	3112422	A	T	18	3112424	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999958209468212	0.928
18	3116321	C	A	18	3116323	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.21383119376005E-5	0.064
18	3116321	C	G	18	3116323	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.21383119376005E-5	0.052
18	3116321	C	T	18	3116323	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.21383119376005E-5	0.056
18	3116322	C	A	18	3116324	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.41730502241299E-4	0.004
18	3116322	C	G	18	3116324	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.04641939496957E-4	0.004
18	3116322	C	T	18	3116324	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.04641939496957E-4	0.01
18	3116323	T	A	18	3116325	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.43165708398892E-5	0.006
18	3116323	T	C	18	3116325	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.56995233987272E-5	0.0
18	3116323	T	G	18	3116325	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.52502850916544E-4	0.01
18	3116324	C	A	18	3116326	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.810079045037313	0.472
18	3116324	C	G	18	3116326	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.71214344397279	0.468
18	3116324	C	T	18	3116326	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.813962567066668	0.522
18	3116325	T	A	18	3116327	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0316355112518907	0.34
18	3116325	T	C	18	3116327	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.188978909816819	0.388
18	3116325	T	G	18	3116327	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0336738511264673	0.332
18	3116326	T	A	18	3116328	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.905060715672474	0.524
18	3116326	T	C	18	3116328	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00877004796250859	0.104
18	3116326	T	G	18	3116328	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.845127350402098	0.586
18	3116327	A	C	18	3116329	y	y	splicing	MYOM1(NM_019856:exon21:c.3015+2T>G;NM_003803:exon22:c.3303+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3303+2T>G;ENST00000356443:exon22:c.3303+2T>G;ENST00000261606:exon21:c.3015+2T>G)	.	.	0.999978952611685	0.928
18	3116327	A	G	18	3116329	y	y	splicing	MYOM1(NM_019856:exon21:c.3015+2T>C;NM_003803:exon22:c.3303+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3303+2T>C;ENST00000356443:exon22:c.3303+2T>C;ENST00000261606:exon21:c.3015+2T>C)	.	.	0.989685221224688	0.628
18	3116327	A	T	18	3116329	y	y	splicing	MYOM1(NM_019856:exon21:c.3015+2T>A;NM_003803:exon22:c.3303+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3303+2T>A;ENST00000356443:exon22:c.3303+2T>A;ENST00000261606:exon21:c.3015+2T>A)	.	.	0.999988247793601	0.926
18	3116328	C	A	18	3116330	y	y	splicing	MYOM1(NM_019856:exon21:c.3015+1G>T;NM_003803:exon22:c.3303+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3303+1G>T;ENST00000356443:exon22:c.3303+1G>T;ENST00000261606:exon21:c.3015+1G>T)	.	.	0.999986675681007	0.932
18	3116328	C	G	18	3116330	y	y	splicing	MYOM1(NM_019856:exon21:c.3015+1G>C;NM_003803:exon22:c.3303+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3303+1G>C;ENST00000356443:exon22:c.3303+1G>C;ENST00000261606:exon21:c.3015+1G>C)	.	.	0.999986675681007	0.932
18	3116328	C	T	18	3116330	y	y	splicing	MYOM1(NM_019856:exon21:c.3015+1G>A;NM_003803:exon22:c.3303+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3303+1G>A;ENST00000356443:exon22:c.3303+1G>A;ENST00000261606:exon21:c.3015+1G>A)	.	.	0.999986675681007	0.932
18	3116329	C	A	18	3116331	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.G3015T:p.K1005N;MYOM1:NM_003803:exon21:c.G3303T:p.K1101N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.G3303T:p.K1101N;ENSG00000101605:ENST00000400569:exon21:c.G3303T:p.K1101N;ENSG00000101605:ENST00000261606:exon20:c.G3015T:p.K1005N;	0.999401377803179	0.948
18	3116329	C	G	18	3116331	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.G3015C:p.K1005N;MYOM1:NM_003803:exon21:c.G3303C:p.K1101N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.G3303C:p.K1101N;ENSG00000101605:ENST00000400569:exon21:c.G3303C:p.K1101N;ENSG00000101605:ENST00000261606:exon20:c.G3015C:p.K1005N;	0.999919885636669	0.972
18	3116329	C	T	18	3116331	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon20:c.G3015A:p.K1005K;MYOM1:NM_003803:exon21:c.G3303A:p.K1101K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.G3303A:p.K1101K;ENSG00000101605:ENST00000400569:exon21:c.G3303A:p.K1101K;ENSG00000101605:ENST00000261606:exon20:c.G3015A:p.K1005K;	0.955771724161306	0.862
18	3116330	T	A	18	3116332	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.A3014T:p.K1005M;MYOM1:NM_003803:exon21:c.A3302T:p.K1101M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.A3302T:p.K1101M;ENSG00000101605:ENST00000400569:exon21:c.A3302T:p.K1101M;ENSG00000101605:ENST00000261606:exon20:c.A3014T:p.K1005M;	0.225822868871944	0.45
18	3116330	T	C	18	3116332	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.A3014G:p.K1005R;MYOM1:NM_003803:exon21:c.A3302G:p.K1101R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.A3302G:p.K1101R;ENSG00000101605:ENST00000400569:exon21:c.A3302G:p.K1101R;ENSG00000101605:ENST00000261606:exon20:c.A3014G:p.K1005R;	0.0316492327871729	0.294
18	3116330	T	G	18	3116332	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.A3014C:p.K1005T;MYOM1:NM_003803:exon21:c.A3302C:p.K1101T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.A3302C:p.K1101T;ENSG00000101605:ENST00000400569:exon21:c.A3302C:p.K1101T;ENSG00000101605:ENST00000261606:exon20:c.A3014C:p.K1005T;	0.0925124641417584	0.566
18	3116331	T	A	18	3116333	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon20:c.A3013T:p.K1005X;MYOM1:NM_003803:exon21:c.A3301T:p.K1101X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon21:c.A3301T:p.K1101X;ENSG00000101605:ENST00000400569:exon21:c.A3301T:p.K1101X;ENSG00000101605:ENST00000261606:exon20:c.A3013T:p.K1005X;	0.928928461976793	0.66
18	3116331	T	C	18	3116333	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.A3013G:p.K1005E;MYOM1:NM_003803:exon21:c.A3301G:p.K1101E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.A3301G:p.K1101E;ENSG00000101605:ENST00000400569:exon21:c.A3301G:p.K1101E;ENSG00000101605:ENST00000261606:exon20:c.A3013G:p.K1005E;	0.134977017913831	0.38
18	3116331	T	G	18	3116333	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.A3013C:p.K1005Q;MYOM1:NM_003803:exon21:c.A3301C:p.K1101Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.A3301C:p.K1101Q;ENSG00000101605:ENST00000400569:exon21:c.A3301C:p.K1101Q;ENSG00000101605:ENST00000261606:exon20:c.A3013C:p.K1005Q;	0.570288409384928	0.482
18	3116512	T	A	18	3116514	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon20:c.A2832T:p.G944G;MYOM1:NM_003803:exon21:c.A3120T:p.G1040G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.A3120T:p.G1040G;ENSG00000101605:ENST00000400569:exon21:c.A3120T:p.G1040G;ENSG00000101605:ENST00000261606:exon20:c.A2832T:p.G944G;	7.67827946788037E-6	0.0
18	3116512	T	C	18	3116514	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon20:c.A2832G:p.G944G;MYOM1:NM_003803:exon21:c.A3120G:p.G1040G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.A3120G:p.G1040G;ENSG00000101605:ENST00000400569:exon21:c.A3120G:p.G1040G;ENSG00000101605:ENST00000261606:exon20:c.A2832G:p.G944G;	1.85081948797511E-5	0.018
18	3116512	T	G	18	3116514	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon20:c.A2832C:p.G944G;MYOM1:NM_003803:exon21:c.A3120C:p.G1040G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.A3120C:p.G1040G;ENSG00000101605:ENST00000400569:exon21:c.A3120C:p.G1040G;ENSG00000101605:ENST00000261606:exon20:c.A2832C:p.G944G;	2.97076674823652E-5	0.0
18	3116513	C	A	18	3116515	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.G2831T:p.G944V;MYOM1:NM_003803:exon21:c.G3119T:p.G1040V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.G3119T:p.G1040V;ENSG00000101605:ENST00000400569:exon21:c.G3119T:p.G1040V;ENSG00000101605:ENST00000261606:exon20:c.G2831T:p.G944V;	0.999771885571471	0.986
18	3116513	C	G	18	3116515	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.G2831C:p.G944A;MYOM1:NM_003803:exon21:c.G3119C:p.G1040A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.G3119C:p.G1040A;ENSG00000101605:ENST00000400569:exon21:c.G3119C:p.G1040A;ENSG00000101605:ENST00000261606:exon20:c.G2831C:p.G944A;	0.99963606863563	0.97
18	3116513	C	T	18	3116515	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon20:c.G2831A:p.G944E;MYOM1:NM_003803:exon21:c.G3119A:p.G1040E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon21:c.G3119A:p.G1040E;ENSG00000101605:ENST00000400569:exon21:c.G3119A:p.G1040E;ENSG00000101605:ENST00000261606:exon20:c.G2831A:p.G944E;	0.996897404741915	0.804
18	3116514	C	A	18	3116516	y	y	splicing	MYOM1(NM_019856:exon21:c.2831-1G>T;NM_003803:exon22:c.3119-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3119-1G>T;ENST00000356443:exon22:c.3119-1G>T;ENST00000261606:exon21:c.2831-1G>T)	.	.	0.999938990645747	0.928
18	3116514	C	G	18	3116516	y	y	splicing	MYOM1(NM_019856:exon21:c.2831-1G>C;NM_003803:exon22:c.3119-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3119-1G>C;ENST00000356443:exon22:c.3119-1G>C;ENST00000261606:exon21:c.2831-1G>C)	.	.	0.999938990645747	0.938
18	3116514	C	T	18	3116516	y	y	splicing	MYOM1(NM_019856:exon21:c.2831-1G>A;NM_003803:exon22:c.3119-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3119-1G>A;ENST00000356443:exon22:c.3119-1G>A;ENST00000261606:exon21:c.2831-1G>A)	.	.	0.999938990645747	0.944
18	3116515	T	A	18	3116517	y	y	splicing	MYOM1(NM_019856:exon21:c.2831-2A>T;NM_003803:exon22:c.3119-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3119-2A>T;ENST00000356443:exon22:c.3119-2A>T;ENST00000261606:exon21:c.2831-2A>T)	.	.	0.999964896440643	0.932
18	3116515	T	C	18	3116517	y	y	splicing	MYOM1(NM_019856:exon21:c.2831-2A>G;NM_003803:exon22:c.3119-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3119-2A>G;ENST00000356443:exon22:c.3119-2A>G;ENST00000261606:exon21:c.2831-2A>G)	.	.	0.999951957019574	0.88
18	3116515	T	G	18	3116517	y	y	splicing	MYOM1(NM_019856:exon21:c.2831-2A>C;NM_003803:exon22:c.3119-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon22:c.3119-2A>C;ENST00000356443:exon22:c.3119-2A>C;ENST00000261606:exon21:c.2831-2A>C)	.	.	0.999951957019574	0.868
18	3116516	G	A	18	3116518	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.33935754459198E-4	0.07
18	3116516	G	C	18	3116518	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999565577861398	0.956
18	3116516	G	T	18	3116518	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.330898111744564	0.488
18	3116517	A	C	18	3116519	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.53397514882839E-5	0.0
18	3116517	A	G	18	3116519	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.32904799659282E-5	0.0
18	3116517	A	T	18	3116519	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.42618616338173E-5	0.0
18	3116518	G	A	18	3116520	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.66515310923245E-5	0.002
18	3116518	G	C	18	3116520	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00334769679518101	0.17
18	3116518	G	T	18	3116520	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00181214277992902	0.052
18	3116519	A	C	18	3116521	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00124465907825849	0.092
18	3116519	A	G	18	3116521	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.30580336325477E-5	0.0
18	3116519	A	T	18	3116521	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.35069988260043E-4	0.072
18	3116520	G	A	18	3116522	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.60745993545955E-5	0.008
18	3116520	G	C	18	3116522	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.02672915061143E-4	0.04
18	3116520	G	T	18	3116522	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.01040838045158E-4	0.054
18	3116521	A	C	18	3116523	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.43531738624004E-5	0.014
18	3116521	A	G	18	3116523	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.83518113445278E-6	0.008
18	3116521	A	T	18	3116523	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.37690495852798E-4	0.046
18	3116522	G	A	18	3116524	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.29128704933276E-5	0.004
18	3116522	G	C	18	3116524	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.4423220994156E-4	0.01
18	3116522	G	T	18	3116524	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.34318612727056E-4	0.034
18	3116523	A	C	18	3116525	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.47238757140309E-4	0.082
18	3116523	A	G	18	3116525	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.2205747961239E-4	0.002
18	3116523	A	T	18	3116525	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00375766592766347	0.128
18	3116524	G	A	18	3116526	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.90483447480598E-5	0.004
18	3116524	G	C	18	3116526	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.15071500140139E-4	0.006
18	3116524	G	T	18	3116526	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.72130190230578E-4	0.078
18	3116525	A	C	18	3116527	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.76424611446431E-4	0.082
18	3116525	A	G	18	3116527	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.96905590512008E-5	0.008
18	3116525	A	T	18	3116527	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00171381537370064	0.106
18	3119859	T	A	18	3119861	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.1739642589144E-5	0.0
18	3119859	T	C	18	3119861	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.48921740173532E-5	0.0
18	3119859	T	G	18	3119861	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.55869924932381E-5	0.0
18	3119860	G	A	18	3119862	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.14754113182492E-5	0.0
18	3119860	G	C	18	3119862	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.99225673566173E-5	0.0
18	3119860	G	T	18	3119862	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.09105271056891E-5	0.0
18	3119861	G	A	18	3119863	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.4025672634296E-5	0.0
18	3119861	G	C	18	3119863	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.69494599458351E-5	0.006
18	3119861	G	T	18	3119863	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.342227045513E-4	0.0
18	3119862	T	A	18	3119864	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.57447218014714E-4	0.014
18	3119862	T	C	18	3119864	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.39767235905382E-4	0.062
18	3119862	T	G	18	3119864	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.48346051578003E-5	0.018
18	3119863	T	A	18	3119865	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.883105057314337	0.64
18	3119863	T	C	18	3119865	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.928608447492145	0.558
18	3119863	T	G	18	3119865	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.776473593002161	0.586
18	3119864	T	A	18	3119866	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99989357811824	0.946
18	3119864	T	C	18	3119866	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.793678710675213	0.662
18	3119864	T	G	18	3119866	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999647070359509	0.95
18	3119865	A	C	18	3119867	y	y	splicing	MYOM1(NM_019856:exon20:c.2830+2T>G;NM_003803:exon21:c.3118+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.3118+2T>G;ENST00000356443:exon21:c.3118+2T>G;ENST00000261606:exon20:c.2830+2T>G)	.	.	0.999988247793601	0.928
18	3119865	A	G	18	3119867	y	y	splicing	MYOM1(NM_019856:exon20:c.2830+2T>C;NM_003803:exon21:c.3118+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.3118+2T>C;ENST00000356443:exon21:c.3118+2T>C;ENST00000261606:exon20:c.2830+2T>C)	.	.	0.986973409415639	0.668
18	3119865	A	T	18	3119867	y	y	splicing	MYOM1(NM_019856:exon20:c.2830+2T>A;NM_003803:exon21:c.3118+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.3118+2T>A;ENST00000356443:exon21:c.3118+2T>A;ENST00000261606:exon20:c.2830+2T>A)	.	.	0.999988247793601	0.93
18	3119866	C	A	18	3119868	y	y	splicing	MYOM1(NM_019856:exon20:c.2830+1G>T;NM_003803:exon21:c.3118+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.3118+1G>T;ENST00000356443:exon21:c.3118+1G>T;ENST00000261606:exon20:c.2830+1G>T)	.	.	0.999989072007339	0.932
18	3119866	C	G	18	3119868	y	y	splicing	MYOM1(NM_019856:exon20:c.2830+1G>C;NM_003803:exon21:c.3118+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.3118+1G>C;ENST00000356443:exon21:c.3118+1G>C;ENST00000261606:exon20:c.2830+1G>C)	.	.	0.999989072007339	0.932
18	3119866	C	T	18	3119868	y	y	splicing	MYOM1(NM_019856:exon20:c.2830+1G>A;NM_003803:exon21:c.3118+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.3118+1G>A;ENST00000356443:exon21:c.3118+1G>A;ENST00000261606:exon20:c.2830+1G>A)	.	.	0.999989072007339	0.932
18	3119867	C	A	18	3119869	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon19:c.G2830T:p.G944X;MYOM1:NM_003803:exon20:c.G3118T:p.G1040X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon20:c.G3118T:p.G1040X;ENSG00000101605:ENST00000400569:exon20:c.G3118T:p.G1040X;ENSG00000101605:ENST00000261606:exon19:c.G2830T:p.G944X;	0.999992084630314	0.992
18	3119867	C	G	18	3119869	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.G2830C:p.G944R;MYOM1:NM_003803:exon20:c.G3118C:p.G1040R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.G3118C:p.G1040R;ENSG00000101605:ENST00000400569:exon20:c.G3118C:p.G1040R;ENSG00000101605:ENST00000261606:exon19:c.G2830C:p.G944R;	0.999997871243653	0.998
18	3119867	C	T	18	3119869	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.G2830A:p.G944R;MYOM1:NM_003803:exon20:c.G3118A:p.G1040R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.G3118A:p.G1040R;ENSG00000101605:ENST00000400569:exon20:c.G3118A:p.G1040R;ENSG00000101605:ENST00000261606:exon19:c.G2830A:p.G944R;	0.999989884227742	0.99
18	3119868	T	A	18	3119870	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon19:c.A2829T:p.P943P;MYOM1:NM_003803:exon20:c.A3117T:p.P1039P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.A3117T:p.P1039P;ENSG00000101605:ENST00000400569:exon20:c.A3117T:p.P1039P;ENSG00000101605:ENST00000261606:exon19:c.A2829T:p.P943P;	0.984312067083493	0.752
18	3119868	T	C	18	3119870	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon19:c.A2829G:p.P943P;MYOM1:NM_003803:exon20:c.A3117G:p.P1039P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.A3117G:p.P1039P;ENSG00000101605:ENST00000400569:exon20:c.A3117G:p.P1039P;ENSG00000101605:ENST00000261606:exon19:c.A2829G:p.P943P;	0.980748192479636	0.65
18	3119868	T	G	18	3119870	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon19:c.A2829C:p.P943P;MYOM1:NM_003803:exon20:c.A3117C:p.P1039P;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.A3117C:p.P1039P;ENSG00000101605:ENST00000400569:exon20:c.A3117C:p.P1039P;ENSG00000101605:ENST00000261606:exon19:c.A2829C:p.P943P;	0.903251056981537	0.622
18	3119869	G	A	18	3119871	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.C2828T:p.P943L;MYOM1:NM_003803:exon20:c.C3116T:p.P1039L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.C3116T:p.P1039L;ENSG00000101605:ENST00000400569:exon20:c.C3116T:p.P1039L;ENSG00000101605:ENST00000261606:exon19:c.C2828T:p.P943L;	0.999408470802817	0.96
18	3119869	G	C	18	3119871	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.C2828G:p.P943R;MYOM1:NM_003803:exon20:c.C3116G:p.P1039R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.C3116G:p.P1039R;ENSG00000101605:ENST00000400569:exon20:c.C3116G:p.P1039R;ENSG00000101605:ENST00000261606:exon19:c.C2828G:p.P943R;	0.912163848858176	0.666
18	3119869	G	T	18	3119871	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.C2828A:p.P943Q;MYOM1:NM_003803:exon20:c.C3116A:p.P1039Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.C3116A:p.P1039Q;ENSG00000101605:ENST00000400569:exon20:c.C3116A:p.P1039Q;ENSG00000101605:ENST00000261606:exon19:c.C2828A:p.P943Q;	0.949610382594859	0.82
18	3119992	A	C	18	3119994	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.T2705G:p.I902S;MYOM1:NM_003803:exon20:c.T2993G:p.I998S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.T2993G:p.I998S;ENSG00000101605:ENST00000400569:exon20:c.T2993G:p.I998S;ENSG00000101605:ENST00000261606:exon19:c.T2705G:p.I902S;	0.185179977754084	0.356
18	3119992	A	G	18	3119994	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.T2705C:p.I902T;MYOM1:NM_003803:exon20:c.T2993C:p.I998T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.T2993C:p.I998T;ENSG00000101605:ENST00000400569:exon20:c.T2993C:p.I998T;ENSG00000101605:ENST00000261606:exon19:c.T2705C:p.I902T;	0.201754710833649	0.366
18	3119992	A	T	18	3119994	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.T2705A:p.I902N;MYOM1:NM_003803:exon20:c.T2993A:p.I998N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.T2993A:p.I998N;ENSG00000101605:ENST00000400569:exon20:c.T2993A:p.I998N;ENSG00000101605:ENST00000261606:exon19:c.T2705A:p.I902N;	0.314338879741098	0.316
18	3119993	T	A	18	3119995	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.A2704T:p.I902F;MYOM1:NM_003803:exon20:c.A2992T:p.I998F;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.A2992T:p.I998F;ENSG00000101605:ENST00000400569:exon20:c.A2992T:p.I998F;ENSG00000101605:ENST00000261606:exon19:c.A2704T:p.I902F;	0.767747975838919	0.47
18	3119993	T	C	18	3119995	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.A2704G:p.I902V;MYOM1:NM_003803:exon20:c.A2992G:p.I998V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.A2992G:p.I998V;ENSG00000101605:ENST00000400569:exon20:c.A2992G:p.I998V;ENSG00000101605:ENST00000261606:exon19:c.A2704G:p.I902V;	1.01414916064944E-4	0.04
18	3119993	T	G	18	3119995	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon19:c.A2704C:p.I902L;MYOM1:NM_003803:exon20:c.A2992C:p.I998L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon20:c.A2992C:p.I998L;ENSG00000101605:ENST00000400569:exon20:c.A2992C:p.I998L;ENSG00000101605:ENST00000261606:exon19:c.A2704C:p.I902L;	0.0442882136191987	0.226
18	3119994	C	A	18	3119996	y	y	splicing	MYOM1(NM_019856:exon20:c.2704-1G>T;NM_003803:exon21:c.2992-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.2992-1G>T;ENST00000356443:exon21:c.2992-1G>T;ENST00000261606:exon20:c.2704-1G>T)	.	.	0.999978411567924	0.914
18	3119994	C	G	18	3119996	y	y	splicing	MYOM1(NM_019856:exon20:c.2704-1G>C;NM_003803:exon21:c.2992-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.2992-1G>C;ENST00000356443:exon21:c.2992-1G>C;ENST00000261606:exon20:c.2704-1G>C)	.	.	0.99997784160781	0.892
18	3119994	C	T	18	3119996	y	y	splicing	MYOM1(NM_019856:exon20:c.2704-1G>A;NM_003803:exon21:c.2992-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.2992-1G>A;ENST00000356443:exon21:c.2992-1G>A;ENST00000261606:exon20:c.2704-1G>A)	.	.	0.999977175055421	0.914
18	3119995	T	A	18	3119997	y	y	splicing	MYOM1(NM_019856:exon20:c.2704-2A>T;NM_003803:exon21:c.2992-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.2992-2A>T;ENST00000356443:exon21:c.2992-2A>T;ENST00000261606:exon20:c.2704-2A>T)	.	.	0.999976819213412	0.886
18	3119995	T	C	18	3119997	y	y	splicing	MYOM1(NM_019856:exon20:c.2704-2A>G;NM_003803:exon21:c.2992-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.2992-2A>G;ENST00000356443:exon21:c.2992-2A>G;ENST00000261606:exon20:c.2704-2A>G)	.	.	0.999957541140616	0.872
18	3119995	T	G	18	3119997	y	y	splicing	MYOM1(NM_019856:exon20:c.2704-2A>C;NM_003803:exon21:c.2992-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon21:c.2992-2A>C;ENST00000356443:exon21:c.2992-2A>C;ENST00000261606:exon20:c.2704-2A>C)	.	.	0.999957541140616	0.876
18	3119996	G	A	18	3119998	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0013343566306153	0.138
18	3119996	G	C	18	3119998	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99808924834626	0.74
18	3119996	G	T	18	3119998	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.97110467131476	0.84
18	3119997	C	A	18	3119999	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.31698235602734E-5	0.01
18	3119997	C	G	18	3119999	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.99958673199513E-5	0.01
18	3119997	C	T	18	3119999	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.21864465792796E-5	0.018
18	3119998	A	C	18	3120000	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.843705702560963	0.586
18	3119998	A	G	18	3120000	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00634707241607277	0.12
18	3119998	A	T	18	3120000	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99965500425065	0.948
18	3119999	A	C	18	3120001	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.407287874261978	0.588
18	3119999	A	G	18	3120001	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.36299573236073E-4	0.06
18	3119999	A	T	18	3120001	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.829133564197782	0.66
18	3120000	C	A	18	3120002	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.2977335659979E-5	0.014
18	3120000	C	G	18	3120002	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.2977335659979E-5	0.006
18	3120000	C	T	18	3120002	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.48524937538421E-5	0.02
18	3120001	A	C	18	3120003	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999783766473285	0.986
18	3120001	A	G	18	3120003	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.66583569111343E-4	0.056
18	3120001	A	T	18	3120003	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999760677298695	0.984
18	3120002	T	A	18	3120004	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.01777517866629E-4	0.01
18	3120002	T	C	18	3120004	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999581303097484	0.986
18	3120002	T	G	18	3120004	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.14174258982055E-4	0.004
18	3120003	T	A	18	3120005	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.71624628799673E-5	0.022
18	3120003	T	C	18	3120005	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.98210424787306E-5	0.02
18	3120003	T	G	18	3120005	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.86875490693539E-5	0.006
18	3120004	G	A	18	3120006	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.05783668758939E-5	0.002
18	3120004	G	C	18	3120006	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.23345456830046E-4	0.096
18	3120004	G	T	18	3120006	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00169966928623293	0.052
18	3120005	A	C	18	3120007	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.828436617129887	0.664
18	3120005	A	G	18	3120007	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00552857225841114	0.2
18	3120005	A	T	18	3120007	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.805609651817322	0.652
18	3126691	G	A	18	3126693	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.69439264402225E-5	0.0
18	3126691	G	C	18	3126693	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.52297880296295E-5	0.0
18	3126691	G	T	18	3126693	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.99196838039782E-5	0.0
18	3126692	T	A	18	3126694	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.17564447662592E-4	0.0
18	3126692	T	C	18	3126694	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.17564447662592E-4	0.0
18	3126692	T	G	18	3126694	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.17564447662592E-4	0.0
18	3126693	G	A	18	3126695	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.67429318842719E-5	0.004
18	3126693	G	C	18	3126695	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.37675824514574E-4	0.028
18	3126693	G	T	18	3126695	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.38512956461989E-5	0.002
18	3126694	C	A	18	3126696	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.774691266626489	0.526
18	3126694	C	G	18	3126696	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0414253718178188	0.502
18	3126694	C	T	18	3126696	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.188146143366275	0.45
18	3126695	T	A	18	3126697	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.483256594226037	0.504
18	3126695	T	C	18	3126697	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.419819634626909	0.428
18	3126695	T	G	18	3126697	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.464323327628672	0.51
18	3126696	T	A	18	3126698	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.61872036508793	0.422
18	3126696	T	C	18	3126698	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.01171810569819E-4	0.014
18	3126696	T	G	18	3126698	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.359386995753335	0.468
18	3126697	A	C	18	3126699	y	y	splicing	MYOM1(NM_019856:exon19:c.2703+2T>G;NM_003803:exon20:c.2991+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2991+2T>G;ENST00000356443:exon20:c.2991+2T>G;ENST00000261606:exon19:c.2703+2T>G)	.	.	0.999989917668626	0.926
18	3126697	A	G	18	3126699	y	y	splicing	MYOM1(NM_019856:exon19:c.2703+2T>C;NM_003803:exon20:c.2991+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2991+2T>C;ENST00000356443:exon20:c.2991+2T>C;ENST00000261606:exon19:c.2703+2T>C)	.	.	0.990945634311904	0.624
18	3126697	A	T	18	3126699	y	y	splicing	MYOM1(NM_019856:exon19:c.2703+2T>A;NM_003803:exon20:c.2991+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2991+2T>A;ENST00000356443:exon20:c.2991+2T>A;ENST00000261606:exon19:c.2703+2T>A)	.	.	0.999989917668626	0.926
18	3126698	C	A	18	3126700	y	y	splicing	MYOM1(NM_019856:exon19:c.2703+1G>T;NM_003803:exon20:c.2991+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2991+1G>T;ENST00000356443:exon20:c.2991+1G>T;ENST00000261606:exon19:c.2703+1G>T)	.	.	0.999986675681007	0.932
18	3126698	C	G	18	3126700	y	y	splicing	MYOM1(NM_019856:exon19:c.2703+1G>C;NM_003803:exon20:c.2991+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2991+1G>C;ENST00000356443:exon20:c.2991+1G>C;ENST00000261606:exon19:c.2703+1G>C)	.	.	0.999986675681007	0.932
18	3126698	C	T	18	3126700	y	y	splicing	MYOM1(NM_019856:exon19:c.2703+1G>A;NM_003803:exon20:c.2991+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2991+1G>A;ENST00000356443:exon20:c.2991+1G>A;ENST00000261606:exon19:c.2703+1G>A)	.	.	0.999986675681007	0.934
18	3126699	C	A	18	3126701	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.G2703T:p.K901N;MYOM1:NM_003803:exon19:c.G2991T:p.K997N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.G2991T:p.K997N;ENSG00000101605:ENST00000400569:exon19:c.G2991T:p.K997N;ENSG00000101605:ENST00000261606:exon18:c.G2703T:p.K901N;	0.999756330929988	1.0
18	3126699	C	G	18	3126701	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.G2703C:p.K901N;MYOM1:NM_003803:exon19:c.G2991C:p.K997N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.G2991C:p.K997N;ENSG00000101605:ENST00000400569:exon19:c.G2991C:p.K997N;ENSG00000101605:ENST00000261606:exon18:c.G2703C:p.K901N;	0.999951030940078	0.972
18	3126699	C	T	18	3126701	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon18:c.G2703A:p.K901K;MYOM1:NM_003803:exon19:c.G2991A:p.K997K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.G2991A:p.K997K;ENSG00000101605:ENST00000400569:exon19:c.G2991A:p.K997K;ENSG00000101605:ENST00000261606:exon18:c.G2703A:p.K901K;	0.997131442852383	0.872
18	3126700	T	A	18	3126702	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.A2702T:p.K901M;MYOM1:NM_003803:exon19:c.A2990T:p.K997M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.A2990T:p.K997M;ENSG00000101605:ENST00000400569:exon19:c.A2990T:p.K997M;ENSG00000101605:ENST00000261606:exon18:c.A2702T:p.K901M;	0.994958687428299	0.678
18	3126700	T	C	18	3126702	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.A2702G:p.K901R;MYOM1:NM_003803:exon19:c.A2990G:p.K997R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.A2990G:p.K997R;ENSG00000101605:ENST00000400569:exon19:c.A2990G:p.K997R;ENSG00000101605:ENST00000261606:exon18:c.A2702G:p.K901R;	0.823898737908618	0.622
18	3126700	T	G	18	3126702	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.A2702C:p.K901T;MYOM1:NM_003803:exon19:c.A2990C:p.K997T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.A2990C:p.K997T;ENSG00000101605:ENST00000400569:exon19:c.A2990C:p.K997T;ENSG00000101605:ENST00000261606:exon18:c.A2702C:p.K901T;	0.992634977799709	0.882
18	3126701	T	A	18	3126703	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon18:c.A2701T:p.K901X;MYOM1:NM_003803:exon19:c.A2989T:p.K997X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon19:c.A2989T:p.K997X;ENSG00000101605:ENST00000400569:exon19:c.A2989T:p.K997X;ENSG00000101605:ENST00000261606:exon18:c.A2701T:p.K901X;	0.930561240410012	0.586
18	3126701	T	C	18	3126703	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.A2701G:p.K901E;MYOM1:NM_003803:exon19:c.A2989G:p.K997E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.A2989G:p.K997E;ENSG00000101605:ENST00000400569:exon19:c.A2989G:p.K997E;ENSG00000101605:ENST00000261606:exon18:c.A2701G:p.K901E;	0.158392827323227	0.416
18	3126701	T	G	18	3126703	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.A2701C:p.K901Q;MYOM1:NM_003803:exon19:c.A2989C:p.K997Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.A2989C:p.K997Q;ENSG00000101605:ENST00000400569:exon19:c.A2989C:p.K997Q;ENSG00000101605:ENST00000261606:exon18:c.A2701C:p.K901Q;	0.561506271430705	0.672
18	3126894	T	A	18	3126896	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon18:c.A2508T:p.A836A;MYOM1:NM_003803:exon19:c.A2796T:p.A932A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.A2796T:p.A932A;ENSG00000101605:ENST00000400569:exon19:c.A2796T:p.A932A;ENSG00000101605:ENST00000261606:exon18:c.A2508T:p.A836A;	1.21343038154586E-5	0.0
18	3126894	T	C	18	3126896	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon18:c.A2508G:p.A836A;MYOM1:NM_003803:exon19:c.A2796G:p.A932A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.A2796G:p.A932A;ENSG00000101605:ENST00000400569:exon19:c.A2796G:p.A932A;ENSG00000101605:ENST00000261606:exon18:c.A2508G:p.A836A;	3.27518760086501E-5	0.006
18	3126894	T	G	18	3126896	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon18:c.A2508C:p.A836A;MYOM1:NM_003803:exon19:c.A2796C:p.A932A;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.A2796C:p.A932A;ENSG00000101605:ENST00000400569:exon19:c.A2796C:p.A932A;ENSG00000101605:ENST00000261606:exon18:c.A2508C:p.A836A;	3.1655315401992E-5	0.0
18	3126895	G	A	18	3126897	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.C2507T:p.A836V;MYOM1:NM_003803:exon19:c.C2795T:p.A932V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.C2795T:p.A932V;ENSG00000101605:ENST00000400569:exon19:c.C2795T:p.A932V;ENSG00000101605:ENST00000261606:exon18:c.C2507T:p.A836V;	0.92798795146535	0.668
18	3126895	G	C	18	3126897	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.C2507G:p.A836G;MYOM1:NM_003803:exon19:c.C2795G:p.A932G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.C2795G:p.A932G;ENSG00000101605:ENST00000400569:exon19:c.C2795G:p.A932G;ENSG00000101605:ENST00000261606:exon18:c.C2507G:p.A836G;	0.193139870608525	0.324
18	3126895	G	T	18	3126897	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon18:c.C2507A:p.A836E;MYOM1:NM_003803:exon19:c.C2795A:p.A932E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon19:c.C2795A:p.A932E;ENSG00000101605:ENST00000400569:exon19:c.C2795A:p.A932E;ENSG00000101605:ENST00000261606:exon18:c.C2507A:p.A836E;	0.9395839456583	0.638
18	3126896	C	A	18	3126898	y	y	splicing	MYOM1(NM_019856:exon19:c.2507-1G>T;NM_003803:exon20:c.2795-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2795-1G>T;ENST00000356443:exon20:c.2795-1G>T;ENST00000261606:exon19:c.2507-1G>T)	.	.	0.999748829800378	0.858
18	3126896	C	G	18	3126898	y	y	splicing	MYOM1(NM_019856:exon19:c.2507-1G>C;NM_003803:exon20:c.2795-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2795-1G>C;ENST00000356443:exon20:c.2795-1G>C;ENST00000261606:exon19:c.2507-1G>C)	.	.	0.999748829800378	0.858
18	3126896	C	T	18	3126898	y	y	splicing	MYOM1(NM_019856:exon19:c.2507-1G>A;NM_003803:exon20:c.2795-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2795-1G>A;ENST00000356443:exon20:c.2795-1G>A;ENST00000261606:exon19:c.2507-1G>A)	.	.	0.999748829800378	0.858
18	3126897	T	A	18	3126899	y	y	splicing	MYOM1(NM_019856:exon19:c.2507-2A>T;NM_003803:exon20:c.2795-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2795-2A>T;ENST00000356443:exon20:c.2795-2A>T;ENST00000261606:exon19:c.2507-2A>T)	.	.	0.999838148113448	0.848
18	3126897	T	C	18	3126899	y	y	splicing	MYOM1(NM_019856:exon19:c.2507-2A>G;NM_003803:exon20:c.2795-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2795-2A>G;ENST00000356443:exon20:c.2795-2A>G;ENST00000261606:exon19:c.2507-2A>G)	.	.	0.999805001273398	0.796
18	3126897	T	G	18	3126899	y	y	splicing	MYOM1(NM_019856:exon19:c.2507-2A>C;NM_003803:exon20:c.2795-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon20:c.2795-2A>C;ENST00000356443:exon20:c.2795-2A>C;ENST00000261606:exon19:c.2507-2A>C)	.	.	0.999805001273398	0.824
18	3126898	G	A	18	3126900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00830166923461496	0.138
18	3126898	G	C	18	3126900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.994378108614111	0.63
18	3126898	G	T	18	3126900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.994114052736858	0.756
18	3126899	T	A	18	3126901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.18731984877846E-4	0.122
18	3126899	T	C	18	3126901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.69909291125872E-4	0.048
18	3126899	T	G	18	3126901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.73208209791211E-4	0.03
18	3126900	A	C	18	3126902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0698160936707469	0.27
18	3126900	A	G	18	3126902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.5519522148279E-4	0.006
18	3126900	A	T	18	3126902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0881385316994055	0.286
18	3126901	G	A	18	3126903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.65415073912527E-4	0.044
18	3126901	G	C	18	3126903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.116933831111883	0.414
18	3126901	G	T	18	3126903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00984096778415839	0.382
18	3126902	C	A	18	3126904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.41945920012542E-4	0.002
18	3126902	C	G	18	3126904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.37014350279986E-4	0.002
18	3126902	C	T	18	3126904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.82231940190261E-4	0.018
18	3126903	A	C	18	3126905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.304784554969532	0.496
18	3126903	A	G	18	3126905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.31209127961918E-5	0.008
18	3126903	A	T	18	3126905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999519579641208	0.984
18	3126904	A	C	18	3126906	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99965503469069	0.948
18	3126904	A	G	18	3126906	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00505888983655812	0.112
18	3126904	A	T	18	3126906	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.494672971570914	0.514
18	3126905	T	A	18	3126907	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.04177688928098E-5	0.0
18	3126905	T	C	18	3126907	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.70383993541352E-5	0.002
18	3126905	T	G	18	3126907	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.71148408388572E-5	0.0
18	3126906	A	C	18	3126908	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999119194772227	0.954
18	3126906	A	G	18	3126908	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.30250286226309E-4	0.172
18	3126906	A	T	18	3126908	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.131748081174057	0.48
18	3126907	T	A	18	3126909	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.63040176260053E-5	0.04
18	3126907	T	C	18	3126909	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.07424707115344E-5	0.02
18	3126907	T	G	18	3126909	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.01903598953791E-5	0.012
18	3129222	A	C	18	3129224	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.22596737701128E-6	0.006
18	3129222	A	G	18	3129224	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.52596147882214E-5	0.006
18	3129222	A	T	18	3129224	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.35707066653201E-5	0.002
18	3129223	C	A	18	3129225	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.41192472675044E-5	0.012
18	3129223	C	G	18	3129225	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.33853226671362E-5	0.0
18	3129223	C	T	18	3129225	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.43581406110117E-5	0.0
18	3129224	T	A	18	3129226	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.06139316339155E-5	0.022
18	3129224	T	C	18	3129226	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.96988053028807E-5	0.0
18	3129224	T	G	18	3129226	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.7689004265062E-4	0.032
18	3129225	C	A	18	3129227	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999425804238761	0.896
18	3129225	C	G	18	3129227	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999346864720736	0.728
18	3129225	C	T	18	3129227	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999296564319369	0.892
18	3129226	T	A	18	3129228	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.970643974876837	0.682
18	3129226	T	C	18	3129228	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.990973447935811	0.766
18	3129226	T	G	18	3129228	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.790356390703186	0.628
18	3129227	C	A	18	3129229	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.996331650363676	0.642
18	3129227	C	G	18	3129229	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.988123444259578	0.594
18	3129227	C	T	18	3129229	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00164121993281246	0.062
18	3129228	A	C	18	3129230	y	y	splicing	MYOM1(NM_003803:exon19:c.2794+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2794+2T>G;ENST00000356443:exon19:c.2794+2T>G)	.	.	0.999969255906173	0.866
18	3129228	A	G	18	3129230	y	y	splicing	MYOM1(NM_003803:exon19:c.2794+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2794+2T>C;ENST00000356443:exon19:c.2794+2T>C)	.	.	0.999608724856664	0.828
18	3129228	A	T	18	3129230	y	y	splicing	MYOM1(NM_003803:exon19:c.2794+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2794+2T>A;ENST00000356443:exon19:c.2794+2T>A)	.	.	0.999972155025474	0.856
18	3129229	C	A	18	3129231	y	y	splicing	MYOM1(NM_003803:exon19:c.2794+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2794+1G>T;ENST00000356443:exon19:c.2794+1G>T)	.	.	0.999974785031454	0.87
18	3129229	C	G	18	3129231	y	y	splicing	MYOM1(NM_003803:exon19:c.2794+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2794+1G>C;ENST00000356443:exon19:c.2794+1G>C)	.	.	0.999974785031454	0.866
18	3129229	C	T	18	3129231	y	y	splicing	MYOM1(NM_003803:exon19:c.2794+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2794+1G>A;ENST00000356443:exon19:c.2794+1G>A)	.	.	0.999977162774916	0.88
18	3129230	C	A	18	3129232	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2794T:p.A932S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2794T:p.A932S;ENSG00000101605:ENST00000400569:exon18:c.G2794T:p.A932S;	0.999676938324471	0.904
18	3129230	C	G	18	3129232	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2794C:p.A932P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2794C:p.A932P;ENSG00000101605:ENST00000400569:exon18:c.G2794C:p.A932P;	0.999998174063421	0.99
18	3129230	C	T	18	3129232	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2794A:p.A932T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2794A:p.A932T;ENSG00000101605:ENST00000400569:exon18:c.G2794A:p.A932T;	0.999408250194697	0.924
18	3129231	T	A	18	3129233	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.A2793T:p.R931S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.A2793T:p.R931S;ENSG00000101605:ENST00000400569:exon18:c.A2793T:p.R931S;	0.952931019799755	0.82
18	3129231	T	C	18	3129233	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_003803:exon18:c.A2793G:p.R931R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.A2793G:p.R931R;ENSG00000101605:ENST00000400569:exon18:c.A2793G:p.R931R;	0.979704679012485	0.72
18	3129231	T	G	18	3129233	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.A2793C:p.R931S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.A2793C:p.R931S;ENSG00000101605:ENST00000400569:exon18:c.A2793C:p.R931S;	0.877771504833325	0.758
18	3129232	C	A	18	3129234	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2792T:p.R931I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2792T:p.R931I;ENSG00000101605:ENST00000400569:exon18:c.G2792T:p.R931I;	2.69909273368388E-4	0.038
18	3129232	C	G	18	3129234	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2792C:p.R931T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2792C:p.R931T;ENSG00000101605:ENST00000400569:exon18:c.G2792C:p.R931T;	1.15332972756256E-5	0.0
18	3129232	C	T	18	3129234	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2792A:p.R931K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2792A:p.R931K;ENSG00000101605:ENST00000400569:exon18:c.G2792A:p.R931K;	1.64371681277112E-5	0.0
18	3129516	C	A	18	3129518	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_003803:exon18:c.G2508T:p.G836G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2508T:p.G836G;ENSG00000101605:ENST00000400569:exon18:c.G2508T:p.G836G;	0.103104941987164	0.33
18	3129516	C	G	18	3129518	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_003803:exon18:c.G2508C:p.G836G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2508C:p.G836G;ENSG00000101605:ENST00000400569:exon18:c.G2508C:p.G836G;	0.0159994177396953	0.232
18	3129516	C	T	18	3129518	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_003803:exon18:c.G2508A:p.G836G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2508A:p.G836G;ENSG00000101605:ENST00000400569:exon18:c.G2508A:p.G836G;	0.0675258800450931	0.208
18	3129517	C	A	18	3129519	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2507T:p.G836V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2507T:p.G836V;ENSG00000101605:ENST00000400569:exon18:c.G2507T:p.G836V;	0.999956619593137	0.994
18	3129517	C	G	18	3129519	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2507C:p.G836A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2507C:p.G836A;ENSG00000101605:ENST00000400569:exon18:c.G2507C:p.G836A;	0.999591234808008	0.918
18	3129517	C	T	18	3129519	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_003803:exon18:c.G2507A:p.G836E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon18:c.G2507A:p.G836E;ENSG00000101605:ENST00000400569:exon18:c.G2507A:p.G836E;	0.999884343456016	0.964
18	3129518	C	A	18	3129520	y	y	splicing	MYOM1(NM_003803:exon19:c.2507-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2507-1G>T;ENST00000356443:exon19:c.2507-1G>T)	.	.	0.999987670894945	0.94
18	3129518	C	G	18	3129520	y	y	splicing	MYOM1(NM_003803:exon19:c.2507-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2507-1G>C;ENST00000356443:exon19:c.2507-1G>C)	.	.	0.999987670894945	0.94
18	3129518	C	T	18	3129520	y	y	splicing	MYOM1(NM_003803:exon19:c.2507-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2507-1G>A;ENST00000356443:exon19:c.2507-1G>A)	.	.	0.999987670894945	0.94
18	3129519	T	A	18	3129521	y	y	splicing	MYOM1(NM_003803:exon19:c.2507-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2507-2A>T;ENST00000356443:exon19:c.2507-2A>T)	.	.	0.999986741007567	0.944
18	3129519	T	C	18	3129521	y	y	splicing	MYOM1(NM_003803:exon19:c.2507-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2507-2A>G;ENST00000356443:exon19:c.2507-2A>G)	.	.	0.999986741007567	0.944
18	3129519	T	G	18	3129521	y	y	splicing	MYOM1(NM_003803:exon19:c.2507-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon19:c.2507-2A>C;ENST00000356443:exon19:c.2507-2A>C)	.	.	0.999986741007567	0.944
18	3129520	A	C	18	3129522	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999617777684167	0.908
18	3129520	A	G	18	3129522	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0585856690882075	0.236
18	3129520	A	T	18	3129522	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.98938503653779	0.778
18	3129521	C	A	18	3129523	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00330259529481456	0.14
18	3129521	C	G	18	3129523	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.002102085178358	0.052
18	3129521	C	T	18	3129523	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.016103515291988	0.27
18	3129522	A	C	18	3129524	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999376973618788	0.952
18	3129522	A	G	18	3129524	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.754876482515868	0.402
18	3129522	A	T	18	3129524	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999972841357661	0.982
18	3129523	G	A	18	3129525	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.4406596005967E-5	0.04
18	3129523	G	C	18	3129525	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999625901346123	0.958
18	3129523	G	T	18	3129525	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0163459647200952	0.338
18	3129524	T	A	18	3129526	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00157687087299436	0.016
18	3129524	T	C	18	3129526	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998903920225869	0.976
18	3129524	T	G	18	3129526	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00166924845191299	0.014
18	3129525	T	A	18	3129527	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.84324960543408E-5	0.054
18	3129525	T	C	18	3129527	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.75770399836104E-4	0.01
18	3129525	T	G	18	3129527	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.69776214482522E-5	0.03
18	3129526	G	A	18	3129528	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.69690064908913E-5	0.058
18	3129526	G	C	18	3129528	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0409114768907684	0.232
18	3129526	G	T	18	3129528	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0168969078377441	0.12
18	3129527	C	A	18	3129529	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.100768797903343	0.21
18	3129527	C	G	18	3129529	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00804428527321209	0.13
18	3129527	C	T	18	3129529	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.525478385755121	0.454
18	3129528	C	A	18	3129530	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.371676495426806	0.408
18	3129528	C	G	18	3129530	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.185472196173313	0.376
18	3129528	C	T	18	3129530	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999903120024	0.956
18	3129529	A	C	18	3129531	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.9994902171317	0.934
18	3129529	A	G	18	3129531	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.823054860111469	0.504
18	3129529	A	T	18	3129531	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99998651103102	0.972
18	3131365	G	A	18	3131367	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.59007098514123E-5	0.022
18	3131365	G	C	18	3131367	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.09557440540112E-5	0.04
18	3131365	G	T	18	3131367	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.59007098514123E-5	0.048
18	3131366	A	C	18	3131368	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.24871582906311E-5	0.004
18	3131366	A	G	18	3131368	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.24871582906311E-5	0.004
18	3131366	A	T	18	3131368	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.24871582906311E-5	0.002
18	3131367	A	C	18	3131369	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0174997407873477	0.332
18	3131367	A	G	18	3131369	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.289570207433129	0.44
18	3131367	A	T	18	3131369	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.108582602494971	0.412
18	3131368	C	A	18	3131370	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999943635917174	0.9
18	3131368	C	G	18	3131370	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99972438943488	0.888
18	3131368	C	T	18	3131370	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999449674848424	0.93
18	3131369	T	A	18	3131371	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.5409895195356	0.46
18	3131369	T	C	18	3131371	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.427376550534166	0.446
18	3131369	T	G	18	3131371	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.122433768509381	0.406
18	3131370	T	A	18	3131372	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.971313378502199	0.696
18	3131370	T	C	18	3131372	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.17281197114818E-4	0.114
18	3131370	T	G	18	3131372	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.989181715911274	0.798
18	3131371	A	C	18	3131373	y	y	splicing	MYOM1(NM_019856:exon18:c.2506+2T>G;NM_003803:exon18:c.2506+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2506+2T>G;ENST00000356443:exon18:c.2506+2T>G;ENST00000261606:exon18:c.2506+2T>G)	.	.	0.999964896440643	0.936
18	3131371	A	G	18	3131373	y	y	splicing	MYOM1(NM_019856:exon18:c.2506+2T>C;NM_003803:exon18:c.2506+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2506+2T>C;ENST00000356443:exon18:c.2506+2T>C;ENST00000261606:exon18:c.2506+2T>C)	.	.	0.979246769799723	0.668
18	3131371	A	T	18	3131373	y	y	splicing	MYOM1(NM_019856:exon18:c.2506+2T>A;NM_003803:exon18:c.2506+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2506+2T>A;ENST00000356443:exon18:c.2506+2T>A;ENST00000261606:exon18:c.2506+2T>A)	.	.	0.999964896440643	0.938
18	3131372	C	A	18	3131374	y	y	splicing	MYOM1(NM_019856:exon18:c.2506+1G>T;NM_003803:exon18:c.2506+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2506+1G>T;ENST00000356443:exon18:c.2506+1G>T;ENST00000261606:exon18:c.2506+1G>T)	.	.	0.99995586615188	0.948
18	3131372	C	G	18	3131374	y	y	splicing	MYOM1(NM_019856:exon18:c.2506+1G>C;NM_003803:exon18:c.2506+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2506+1G>C;ENST00000356443:exon18:c.2506+1G>C;ENST00000261606:exon18:c.2506+1G>C)	.	.	0.99995586615188	0.948
18	3131372	C	T	18	3131374	y	y	splicing	MYOM1(NM_019856:exon18:c.2506+1G>A;NM_003803:exon18:c.2506+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2506+1G>A;ENST00000356443:exon18:c.2506+1G>A;ENST00000261606:exon18:c.2506+1G>A)	.	.	0.99995545544995	0.948
18	3131373	C	A	18	3131375	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.G2506T:p.A836S;MYOM1:NM_003803:exon17:c.G2506T:p.G836W;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.G2506T:p.G836W;ENSG00000101605:ENST00000400569:exon17:c.G2506T:p.G836W;ENSG00000101605:ENST00000261606:exon17:c.G2506T:p.A836S;	0.999941903482446	0.814
18	3131373	C	G	18	3131375	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.G2506C:p.A836P;MYOM1:NM_003803:exon17:c.G2506C:p.G836R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.G2506C:p.G836R;ENSG00000101605:ENST00000400569:exon17:c.G2506C:p.G836R;ENSG00000101605:ENST00000261606:exon17:c.G2506C:p.A836P;	0.999974658602966	0.924
18	3131373	C	T	18	3131375	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.G2506A:p.A836T;MYOM1:NM_003803:exon17:c.G2506A:p.G836R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.G2506A:p.G836R;ENSG00000101605:ENST00000400569:exon17:c.G2506A:p.G836R;ENSG00000101605:ENST00000261606:exon17:c.G2506A:p.A836T;	0.999961886717476	0.98
18	3131374	A	C	18	3131376	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.T2505G:p.I835M;MYOM1:NM_003803:exon17:c.T2505G:p.I835M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2505G:p.I835M;ENSG00000101605:ENST00000400569:exon17:c.T2505G:p.I835M;ENSG00000101605:ENST00000261606:exon17:c.T2505G:p.I835M;	5.39832766561772E-5	0.048
18	3131374	A	G	18	3131376	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon17:c.T2505C:p.I835I;MYOM1:NM_003803:exon17:c.T2505C:p.I835I;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2505C:p.I835I;ENSG00000101605:ENST00000400569:exon17:c.T2505C:p.I835I;ENSG00000101605:ENST00000261606:exon17:c.T2505C:p.I835I;	1.11764092759937E-4	0.0
18	3131374	A	T	18	3131376	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon17:c.T2505A:p.I835I;MYOM1:NM_003803:exon17:c.T2505A:p.I835I;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2505A:p.I835I;ENSG00000101605:ENST00000400569:exon17:c.T2505A:p.I835I;ENSG00000101605:ENST00000261606:exon17:c.T2505A:p.I835I;	4.10741474857692E-5	0.116
18	3131375	A	C	18	3131377	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.T2504G:p.I835S;MYOM1:NM_003803:exon17:c.T2504G:p.I835S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2504G:p.I835S;ENSG00000101605:ENST00000400569:exon17:c.T2504G:p.I835S;ENSG00000101605:ENST00000261606:exon17:c.T2504G:p.I835S;	0.202690980699029	0.434
18	3131375	A	G	18	3131377	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.T2504C:p.I835T;MYOM1:NM_003803:exon17:c.T2504C:p.I835T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2504C:p.I835T;ENSG00000101605:ENST00000400569:exon17:c.T2504C:p.I835T;ENSG00000101605:ENST00000261606:exon17:c.T2504C:p.I835T;	0.00150046723430683	0.018
18	3131375	A	T	18	3131377	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.T2504A:p.I835N;MYOM1:NM_003803:exon17:c.T2504A:p.I835N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2504A:p.I835N;ENSG00000101605:ENST00000400569:exon17:c.T2504A:p.I835N;ENSG00000101605:ENST00000261606:exon17:c.T2504A:p.I835N;	0.689363049968009	0.674
18	3131493	A	C	18	3131495	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.T2386G:p.F796V;MYOM1:NM_003803:exon17:c.T2386G:p.F796V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2386G:p.F796V;ENSG00000101605:ENST00000400569:exon17:c.T2386G:p.F796V;ENSG00000101605:ENST00000261606:exon17:c.T2386G:p.F796V;	0.259508218736582	0.454
18	3131493	A	G	18	3131495	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.T2386C:p.F796L;MYOM1:NM_003803:exon17:c.T2386C:p.F796L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2386C:p.F796L;ENSG00000101605:ENST00000400569:exon17:c.T2386C:p.F796L;ENSG00000101605:ENST00000261606:exon17:c.T2386C:p.F796L;	0.283710855941826	0.49
18	3131493	A	T	18	3131495	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon17:c.T2386A:p.F796I;MYOM1:NM_003803:exon17:c.T2386A:p.F796I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.T2386A:p.F796I;ENSG00000101605:ENST00000400569:exon17:c.T2386A:p.F796I;ENSG00000101605:ENST00000261606:exon17:c.T2386A:p.F796I;	0.161085050014013	0.454
18	3131494	T	A	18	3131496	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon17:c.A2385T:p.R795R;MYOM1:NM_003803:exon17:c.A2385T:p.R795R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.A2385T:p.R795R;ENSG00000101605:ENST00000400569:exon17:c.A2385T:p.R795R;ENSG00000101605:ENST00000261606:exon17:c.A2385T:p.R795R;	6.85939028816594E-5	0.002
18	3131494	T	C	18	3131496	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon17:c.A2385G:p.R795R;MYOM1:NM_003803:exon17:c.A2385G:p.R795R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.A2385G:p.R795R;ENSG00000101605:ENST00000400569:exon17:c.A2385G:p.R795R;ENSG00000101605:ENST00000261606:exon17:c.A2385G:p.R795R;	1.29094831012973E-5	0.0
18	3131494	T	G	18	3131496	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon17:c.A2385C:p.R795R;MYOM1:NM_003803:exon17:c.A2385C:p.R795R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon17:c.A2385C:p.R795R;ENSG00000101605:ENST00000400569:exon17:c.A2385C:p.R795R;ENSG00000101605:ENST00000261606:exon17:c.A2385C:p.R795R;	8.43994136118557E-5	0.006
18	3131495	C	A	18	3131497	y	y	splicing	MYOM1(NM_019856:exon18:c.2385-1G>T;NM_003803:exon18:c.2385-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2385-1G>T;ENST00000356443:exon18:c.2385-1G>T;ENST00000261606:exon18:c.2385-1G>T)	.	.	0.999976475802857	0.906
18	3131495	C	G	18	3131497	y	y	splicing	MYOM1(NM_019856:exon18:c.2385-1G>C;NM_003803:exon18:c.2385-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2385-1G>C;ENST00000356443:exon18:c.2385-1G>C;ENST00000261606:exon18:c.2385-1G>C)	.	.	0.999976475802857	0.91
18	3131495	C	T	18	3131497	y	y	splicing	MYOM1(NM_019856:exon18:c.2385-1G>A;NM_003803:exon18:c.2385-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2385-1G>A;ENST00000356443:exon18:c.2385-1G>A;ENST00000261606:exon18:c.2385-1G>A)	.	.	0.999970205305079	0.922
18	3131496	T	A	18	3131498	y	y	splicing	MYOM1(NM_019856:exon18:c.2385-2A>T;NM_003803:exon18:c.2385-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2385-2A>T;ENST00000356443:exon18:c.2385-2A>T;ENST00000261606:exon18:c.2385-2A>T)	.	.	0.999971317418422	0.892
18	3131496	T	C	18	3131498	y	y	splicing	MYOM1(NM_019856:exon18:c.2385-2A>G;NM_003803:exon18:c.2385-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2385-2A>G;ENST00000356443:exon18:c.2385-2A>G;ENST00000261606:exon18:c.2385-2A>G)	.	.	0.999972155025474	0.842
18	3131496	T	G	18	3131498	y	y	splicing	MYOM1(NM_019856:exon18:c.2385-2A>C;NM_003803:exon18:c.2385-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon18:c.2385-2A>C;ENST00000356443:exon18:c.2385-2A>C;ENST00000261606:exon18:c.2385-2A>C)	.	.	0.999972155025474	0.816
18	3131497	A	C	18	3131499	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.995072563217188	0.664
18	3131497	A	G	18	3131499	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.46952050099825E-5	0.026
18	3131497	A	T	18	3131499	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00625874744893289	0.244
18	3131498	A	C	18	3131500	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.89397043847822E-5	0.004
18	3131498	A	G	18	3131500	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.05902687388253E-5	0.004
18	3131498	A	T	18	3131500	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.04290503898835E-5	0.006
18	3131499	A	C	18	3131501	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.84375659664592E-4	0.184
18	3131499	A	G	18	3131501	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.85058736989167E-4	0.088
18	3131499	A	T	18	3131501	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00115974240430964	0.166
18	3131500	A	C	18	3131502	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.49049776359876E-4	0.164
18	3131500	A	G	18	3131502	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.30895689696753E-5	0.016
18	3131500	A	T	18	3131502	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00170058306045346	0.202
18	3131501	G	A	18	3131503	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.62686400833272E-5	0.018
18	3131501	G	C	18	3131503	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.43582844513404E-5	0.04
18	3131501	G	T	18	3131503	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.74357280387173E-5	0.04
18	3131502	G	A	18	3131504	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.31192090187763E-5	0.036
18	3131502	G	C	18	3131504	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.23553472931819E-4	0.108
18	3131502	G	T	18	3131504	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.18285798524028E-4	0.092
18	3131503	A	C	18	3131505	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.04219086687563E-4	0.17
18	3131503	A	G	18	3131505	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.91476055035879E-5	0.006
18	3131503	A	T	18	3131505	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.32610450319472E-4	0.106
18	3131504	A	C	18	3131506	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.13664183681441E-4	0.126
18	3131504	A	G	18	3131506	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.6905382839993E-5	0.006
18	3131504	A	T	18	3131506	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.46017643323388E-4	0.106
18	3131505	A	C	18	3131507	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00337569090352145	0.26
18	3131505	A	G	18	3131507	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.53367381933588E-4	0.046
18	3131505	A	T	18	3131507	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00170767319223101	0.284
18	3131506	A	C	18	3131508	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.01008022375528E-4	0.074
18	3131506	A	G	18	3131508	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.20148471986922E-5	0.002
18	3131506	A	T	18	3131508	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.36338244820544E-4	0.078
18	3134640	T	A	18	3134642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.71664840939203E-4	0.004
18	3134640	T	C	18	3134642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.74142582711741E-4	0.0
18	3134640	T	G	18	3134642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.71432309234308E-4	0.004
18	3134641	G	A	18	3134643	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.11576994917517E-5	0.0
18	3134641	G	C	18	3134643	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.8671905970794E-5	0.022
18	3134641	G	T	18	3134643	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.62146224893128E-5	0.0
18	3134642	A	C	18	3134644	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.57144968712461E-4	0.264
18	3134642	A	G	18	3134644	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00216633903600049	0.394
18	3134642	A	T	18	3134644	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00156693956094925	0.29
18	3134643	G	A	18	3134645	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.96057080015747E-5	0.002
18	3134643	G	C	18	3134645	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.45656623125558E-5	0.216
18	3134643	G	T	18	3134645	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.79392835042743E-5	0.014
18	3134644	T	A	18	3134646	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.73162004080165	0.708
18	3134644	T	C	18	3134646	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.972512964271088	0.844
18	3134644	T	G	18	3134646	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.699755714376454	0.512
18	3134645	T	A	18	3134647	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999941438709204	0.94
18	3134645	T	C	18	3134647	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.714013284197141	0.822
18	3134645	T	G	18	3134647	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999887156960873	0.954
18	3134646	A	C	18	3134648	y	y	splicing	MYOM1(NM_019856:exon17:c.2384+2T>G;NM_003803:exon17:c.2384+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2384+2T>G;ENST00000356443:exon17:c.2384+2T>G;ENST00000261606:exon17:c.2384+2T>G)	.	.	0.999988247793601	0.926
18	3134646	A	G	18	3134648	y	y	splicing	MYOM1(NM_019856:exon17:c.2384+2T>C;NM_003803:exon17:c.2384+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2384+2T>C;ENST00000356443:exon17:c.2384+2T>C;ENST00000261606:exon17:c.2384+2T>C)	.	.	0.98918007292081	0.614
18	3134646	A	T	18	3134648	y	y	splicing	MYOM1(NM_019856:exon17:c.2384+2T>A;NM_003803:exon17:c.2384+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2384+2T>A;ENST00000356443:exon17:c.2384+2T>A;ENST00000261606:exon17:c.2384+2T>A)	.	.	0.999988247793601	0.928
18	3134647	C	A	18	3134649	y	y	splicing	MYOM1(NM_019856:exon17:c.2384+1G>T;NM_003803:exon17:c.2384+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2384+1G>T;ENST00000356443:exon17:c.2384+1G>T;ENST00000261606:exon17:c.2384+1G>T)	.	.	0.999985532734767	0.936
18	3134647	C	G	18	3134649	y	y	splicing	MYOM1(NM_019856:exon17:c.2384+1G>C;NM_003803:exon17:c.2384+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2384+1G>C;ENST00000356443:exon17:c.2384+1G>C;ENST00000261606:exon17:c.2384+1G>C)	.	.	0.999985532734767	0.936
18	3134647	C	T	18	3134649	y	y	splicing	MYOM1(NM_019856:exon17:c.2384+1G>A;NM_003803:exon17:c.2384+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2384+1G>A;ENST00000356443:exon17:c.2384+1G>A;ENST00000261606:exon17:c.2384+1G>A)	.	.	0.999985532734767	0.936
18	3134648	C	A	18	3134650	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.G2384T:p.R795L;MYOM1:NM_003803:exon16:c.G2384T:p.R795L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.G2384T:p.R795L;ENSG00000101605:ENST00000400569:exon16:c.G2384T:p.R795L;ENSG00000101605:ENST00000261606:exon16:c.G2384T:p.R795L;	0.999964104041661	0.986
18	3134648	C	G	18	3134650	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.G2384C:p.R795P;MYOM1:NM_003803:exon16:c.G2384C:p.R795P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.G2384C:p.R795P;ENSG00000101605:ENST00000400569:exon16:c.G2384C:p.R795P;ENSG00000101605:ENST00000261606:exon16:c.G2384C:p.R795P;	0.999991579223159	1.0
18	3134648	C	T	18	3134650	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.G2384A:p.R795Q;MYOM1:NM_003803:exon16:c.G2384A:p.R795Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.G2384A:p.R795Q;ENSG00000101605:ENST00000400569:exon16:c.G2384A:p.R795Q;ENSG00000101605:ENST00000261606:exon16:c.G2384A:p.R795Q;	0.999991641732038	1.0
18	3134649	G	A	18	3134651	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon16:c.C2383T:p.R795X;MYOM1:NM_003803:exon16:c.C2383T:p.R795X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon16:c.C2383T:p.R795X;ENSG00000101605:ENST00000400569:exon16:c.C2383T:p.R795X;ENSG00000101605:ENST00000261606:exon16:c.C2383T:p.R795X;	0.331611332751563	0.542
18	3134649	G	C	18	3134651	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.C2383G:p.R795G;MYOM1:NM_003803:exon16:c.C2383G:p.R795G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.C2383G:p.R795G;ENSG00000101605:ENST00000400569:exon16:c.C2383G:p.R795G;ENSG00000101605:ENST00000261606:exon16:c.C2383G:p.R795G;	0.126371643300789	0.312
18	3134649	G	T	18	3134651	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon16:c.C2383A:p.R795R;MYOM1:NM_003803:exon16:c.C2383A:p.R795R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.C2383A:p.R795R;ENSG00000101605:ENST00000400569:exon16:c.C2383A:p.R795R;ENSG00000101605:ENST00000261606:exon16:c.C2383A:p.R795R;	2.23785460263616E-4	0.138
18	3134650	T	A	18	3134652	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon16:c.A2382T:p.S794S;MYOM1:NM_003803:exon16:c.A2382T:p.S794S;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.A2382T:p.S794S;ENSG00000101605:ENST00000400569:exon16:c.A2382T:p.S794S;ENSG00000101605:ENST00000261606:exon16:c.A2382T:p.S794S;	0.0233768915611731	0.33
18	3134650	T	C	18	3134652	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon16:c.A2382G:p.S794S;MYOM1:NM_003803:exon16:c.A2382G:p.S794S;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.A2382G:p.S794S;ENSG00000101605:ENST00000400569:exon16:c.A2382G:p.S794S;ENSG00000101605:ENST00000261606:exon16:c.A2382G:p.S794S;	6.58180826545838E-4	0.012
18	3134650	T	G	18	3134652	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon16:c.A2382C:p.S794S;MYOM1:NM_003803:exon16:c.A2382C:p.S794S;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.A2382C:p.S794S;ENSG00000101605:ENST00000400569:exon16:c.A2382C:p.S794S;ENSG00000101605:ENST00000261606:exon16:c.A2382C:p.S794S;	2.018181729531E-4	0.018
18	3134821	A	C	18	3134823	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.T2211G:p.D737E;MYOM1:NM_003803:exon16:c.T2211G:p.D737E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.T2211G:p.D737E;ENSG00000101605:ENST00000400569:exon16:c.T2211G:p.D737E;ENSG00000101605:ENST00000261606:exon16:c.T2211G:p.D737E;	1.89300933250636E-4	0.012
18	3134821	A	G	18	3134823	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon16:c.T2211C:p.D737D;MYOM1:NM_003803:exon16:c.T2211C:p.D737D;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.T2211C:p.D737D;ENSG00000101605:ENST00000400569:exon16:c.T2211C:p.D737D;ENSG00000101605:ENST00000261606:exon16:c.T2211C:p.D737D;	2.94200022830172E-4	0.022
18	3134821	A	T	18	3134823	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.T2211A:p.D737E;MYOM1:NM_003803:exon16:c.T2211A:p.D737E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.T2211A:p.D737E;ENSG00000101605:ENST00000400569:exon16:c.T2211A:p.D737E;ENSG00000101605:ENST00000261606:exon16:c.T2211A:p.D737E;	4.86422311394858E-5	0.01
18	3134822	T	A	18	3134824	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.A2210T:p.D737V;MYOM1:NM_003803:exon16:c.A2210T:p.D737V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.A2210T:p.D737V;ENSG00000101605:ENST00000400569:exon16:c.A2210T:p.D737V;ENSG00000101605:ENST00000261606:exon16:c.A2210T:p.D737V;	0.373405088457668	0.516
18	3134822	T	C	18	3134824	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.A2210G:p.D737G;MYOM1:NM_003803:exon16:c.A2210G:p.D737G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.A2210G:p.D737G;ENSG00000101605:ENST00000400569:exon16:c.A2210G:p.D737G;ENSG00000101605:ENST00000261606:exon16:c.A2210G:p.D737G;	0.609178629229558	0.712
18	3134822	T	G	18	3134824	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon16:c.A2210C:p.D737A;MYOM1:NM_003803:exon16:c.A2210C:p.D737A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon16:c.A2210C:p.D737A;ENSG00000101605:ENST00000400569:exon16:c.A2210C:p.D737A;ENSG00000101605:ENST00000261606:exon16:c.A2210C:p.D737A;	0.502164963630258	0.61
18	3134823	C	A	18	3134825	y	y	splicing	MYOM1(NM_019856:exon17:c.2210-1G>T;NM_003803:exon17:c.2210-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2210-1G>T;ENST00000356443:exon17:c.2210-1G>T;ENST00000261606:exon17:c.2210-1G>T)	.	.	0.999985532734767	0.938
18	3134823	C	G	18	3134825	y	y	splicing	MYOM1(NM_019856:exon17:c.2210-1G>C;NM_003803:exon17:c.2210-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2210-1G>C;ENST00000356443:exon17:c.2210-1G>C;ENST00000261606:exon17:c.2210-1G>C)	.	.	0.999985532734767	0.938
18	3134823	C	T	18	3134825	y	y	splicing	MYOM1(NM_019856:exon17:c.2210-1G>A;NM_003803:exon17:c.2210-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2210-1G>A;ENST00000356443:exon17:c.2210-1G>A;ENST00000261606:exon17:c.2210-1G>A)	.	.	0.999985532734767	0.938
18	3134824	T	A	18	3134826	y	y	splicing	MYOM1(NM_019856:exon17:c.2210-2A>T;NM_003803:exon17:c.2210-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2210-2A>T;ENST00000356443:exon17:c.2210-2A>T;ENST00000261606:exon17:c.2210-2A>T)	.	.	0.999970661931818	0.928
18	3134824	T	C	18	3134826	y	y	splicing	MYOM1(NM_019856:exon17:c.2210-2A>G;NM_003803:exon17:c.2210-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2210-2A>G;ENST00000356443:exon17:c.2210-2A>G;ENST00000261606:exon17:c.2210-2A>G)	.	.	0.99994568797423	0.924
18	3134824	T	G	18	3134826	y	y	splicing	MYOM1(NM_019856:exon17:c.2210-2A>C;NM_003803:exon17:c.2210-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon17:c.2210-2A>C;ENST00000356443:exon17:c.2210-2A>C;ENST00000261606:exon17:c.2210-2A>C)	.	.	0.99994568797423	0.922
18	3134825	G	A	18	3134827	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0208154992829624	0.202
18	3134825	G	C	18	3134827	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999369759166632	0.896
18	3134825	G	T	18	3134827	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.156465114839775	0.47
18	3134826	A	C	18	3134828	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.42748282792826E-5	0.002
18	3134826	A	G	18	3134828	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.47344136690111E-5	0.0
18	3134826	A	T	18	3134828	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.8841099402459E-5	0.0
18	3134827	G	A	18	3134829	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.15531908586808E-5	0.086
18	3134827	G	C	18	3134829	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.45262095810478E-5	0.114
18	3134827	G	T	18	3134829	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.23538638966769E-5	0.046
18	3134828	A	C	18	3134830	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.26533702590427E-4	0.104
18	3134828	A	G	18	3134830	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.58426024712548E-5	0.002
18	3134828	A	T	18	3134830	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.32917947283008E-4	0.086
18	3134829	A	C	18	3134831	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.77253488934062E-5	0.054
18	3134829	A	G	18	3134831	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.07671976305097E-5	0.02
18	3134829	A	T	18	3134831	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.92704513439193E-5	0.046
18	3134830	A	C	18	3134832	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.30510962370114E-5	0.056
18	3134830	A	G	18	3134832	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.0583940890554E-5	0.018
18	3134830	A	T	18	3134832	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.77866232868421E-5	0.072
18	3134831	G	A	18	3134833	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.99732777589041E-5	0.064
18	3134831	G	C	18	3134833	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.57191041790175E-5	0.032
18	3134831	G	T	18	3134833	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.60478010787267E-5	0.048
18	3134832	A	C	18	3134834	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00101780202313332	0.29
18	3134832	A	G	18	3134834	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.42640951426446E-4	0.042
18	3134832	A	T	18	3134834	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.39926676980121E-4	0.312
18	3134833	G	A	18	3134835	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.58150250244176E-5	0.028
18	3134833	G	C	18	3134835	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.70286431552214E-5	0.004
18	3134833	G	T	18	3134835	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.30994027793361E-5	0.038
18	3134834	G	A	18	3134836	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.67489366992587E-5	0.028
18	3134834	G	C	18	3134836	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.92915056317703E-5	0.008
18	3134834	G	T	18	3134836	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.34535661201839E-5	0.026
18	3135537	T	A	18	3135539	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.86075475573093E-5	0.006
18	3135537	T	C	18	3135539	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.35349562609164E-5	0.006
18	3135537	T	G	18	3135539	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.27802521110938E-5	0.006
18	3135538	T	A	18	3135540	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.55416644405842E-5	0.004
18	3135538	T	C	18	3135540	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.55416644405842E-5	0.0
18	3135538	T	G	18	3135540	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.16222375701508E-5	0.0
18	3135539	G	A	18	3135541	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.80237399883311E-5	0.036
18	3135539	G	C	18	3135541	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.49765502582072E-5	0.08
18	3135539	G	T	18	3135541	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.06420466103137E-5	0.044
18	3135540	C	A	18	3135542	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999901422645082	0.914
18	3135540	C	G	18	3135542	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999932803960799	0.94
18	3135540	C	T	18	3135542	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999785992397838	0.902
18	3135541	T	A	18	3135543	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.700949979961341	0.676
18	3135541	T	C	18	3135543	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.808794056330896	0.712
18	3135541	T	G	18	3135543	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.659988503079698	0.554
18	3135542	T	A	18	3135544	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.986564880991166	0.692
18	3135542	T	C	18	3135544	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.19625808211858E-4	0.014
18	3135542	T	G	18	3135544	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.977198836096427	0.792
18	3135543	A	C	18	3135545	y	y	splicing	MYOM1(NM_019856:exon16:c.2209+2T>G;NM_003803:exon16:c.2209+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2209+2T>G;ENST00000356443:exon16:c.2209+2T>G;ENST00000261606:exon16:c.2209+2T>G)	.	.	0.99994568797423	0.946
18	3135543	A	G	18	3135545	y	y	splicing	MYOM1(NM_019856:exon16:c.2209+2T>C;NM_003803:exon16:c.2209+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2209+2T>C;ENST00000356443:exon16:c.2209+2T>C;ENST00000261606:exon16:c.2209+2T>C)	.	.	0.999624121748994	0.902
18	3135543	A	T	18	3135545	y	y	splicing	MYOM1(NM_019856:exon16:c.2209+2T>A;NM_003803:exon16:c.2209+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2209+2T>A;ENST00000356443:exon16:c.2209+2T>A;ENST00000261606:exon16:c.2209+2T>A)	.	.	0.99994568797423	0.942
18	3135544	C	A	18	3135546	y	y	splicing	MYOM1(NM_019856:exon16:c.2209+1G>T;NM_003803:exon16:c.2209+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2209+1G>T;ENST00000356443:exon16:c.2209+1G>T;ENST00000261606:exon16:c.2209+1G>T)	.	.	0.999949496871441	0.932
18	3135544	C	G	18	3135546	y	y	splicing	MYOM1(NM_019856:exon16:c.2209+1G>C;NM_003803:exon16:c.2209+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2209+1G>C;ENST00000356443:exon16:c.2209+1G>C;ENST00000261606:exon16:c.2209+1G>C)	.	.	0.999949496871441	0.942
18	3135544	C	T	18	3135546	y	y	splicing	MYOM1(NM_019856:exon16:c.2209+1G>A;NM_003803:exon16:c.2209+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2209+1G>A;ENST00000356443:exon16:c.2209+1G>A;ENST00000261606:exon16:c.2209+1G>A)	.	.	0.999949496871441	0.924
18	3135545	C	A	18	3135547	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.G2209T:p.D737Y;MYOM1:NM_003803:exon15:c.G2209T:p.D737Y;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.G2209T:p.D737Y;ENSG00000101605:ENST00000400569:exon15:c.G2209T:p.D737Y;ENSG00000101605:ENST00000261606:exon15:c.G2209T:p.D737Y;	0.99999550591832	1.0
18	3135545	C	G	18	3135547	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.G2209C:p.D737H;MYOM1:NM_003803:exon15:c.G2209C:p.D737H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.G2209C:p.D737H;ENSG00000101605:ENST00000400569:exon15:c.G2209C:p.D737H;ENSG00000101605:ENST00000261606:exon15:c.G2209C:p.D737H;	0.999996049036148	0.982
18	3135545	C	T	18	3135547	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.G2209A:p.D737N;MYOM1:NM_003803:exon15:c.G2209A:p.D737N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.G2209A:p.D737N;ENSG00000101605:ENST00000400569:exon15:c.G2209A:p.D737N;ENSG00000101605:ENST00000261606:exon15:c.G2209A:p.D737N;	0.999994868013052	1.0
18	3135546	A	C	18	3135548	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon15:c.T2208G:p.L736L;MYOM1:NM_003803:exon15:c.T2208G:p.L736L;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2208G:p.L736L;ENSG00000101605:ENST00000400569:exon15:c.T2208G:p.L736L;ENSG00000101605:ENST00000261606:exon15:c.T2208G:p.L736L;	7.10110003107596E-5	0.0
18	3135546	A	G	18	3135548	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon15:c.T2208C:p.L736L;MYOM1:NM_003803:exon15:c.T2208C:p.L736L;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2208C:p.L736L;ENSG00000101605:ENST00000400569:exon15:c.T2208C:p.L736L;ENSG00000101605:ENST00000261606:exon15:c.T2208C:p.L736L;	7.17732127387435E-5	0.0
18	3135546	A	T	18	3135548	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon15:c.T2208A:p.L736L;MYOM1:NM_003803:exon15:c.T2208A:p.L736L;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2208A:p.L736L;ENSG00000101605:ENST00000400569:exon15:c.T2208A:p.L736L;ENSG00000101605:ENST00000261606:exon15:c.T2208A:p.L736L;	6.73543422531281E-5	0.068
18	3135547	A	C	18	3135549	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.T2207G:p.L736R;MYOM1:NM_003803:exon15:c.T2207G:p.L736R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2207G:p.L736R;ENSG00000101605:ENST00000400569:exon15:c.T2207G:p.L736R;ENSG00000101605:ENST00000261606:exon15:c.T2207G:p.L736R;	0.788474069953017	0.64
18	3135547	A	G	18	3135549	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.T2207C:p.L736P;MYOM1:NM_003803:exon15:c.T2207C:p.L736P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2207C:p.L736P;ENSG00000101605:ENST00000400569:exon15:c.T2207C:p.L736P;ENSG00000101605:ENST00000261606:exon15:c.T2207C:p.L736P;	0.678499207345752	0.644
18	3135547	A	T	18	3135549	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.T2207A:p.L736H;MYOM1:NM_003803:exon15:c.T2207A:p.L736H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2207A:p.L736H;ENSG00000101605:ENST00000400569:exon15:c.T2207A:p.L736H;ENSG00000101605:ENST00000261606:exon15:c.T2207A:p.L736H;	0.661069787287983	0.62
18	3135727	C	A	18	3135729	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.G2027T:p.C676F;MYOM1:NM_003803:exon15:c.G2027T:p.C676F;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.G2027T:p.C676F;ENSG00000101605:ENST00000400569:exon15:c.G2027T:p.C676F;ENSG00000101605:ENST00000261606:exon15:c.G2027T:p.C676F;	0.709065494028963	0.594
18	3135727	C	G	18	3135729	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.G2027C:p.C676S;MYOM1:NM_003803:exon15:c.G2027C:p.C676S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.G2027C:p.C676S;ENSG00000101605:ENST00000400569:exon15:c.G2027C:p.C676S;ENSG00000101605:ENST00000261606:exon15:c.G2027C:p.C676S;	0.420464061005475	0.604
18	3135727	C	T	18	3135729	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.G2027A:p.C676Y;MYOM1:NM_003803:exon15:c.G2027A:p.C676Y;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.G2027A:p.C676Y;ENSG00000101605:ENST00000400569:exon15:c.G2027A:p.C676Y;ENSG00000101605:ENST00000261606:exon15:c.G2027A:p.C676Y;	0.541923378233365	0.65
18	3135728	A	C	18	3135730	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.T2026G:p.C676G;MYOM1:NM_003803:exon15:c.T2026G:p.C676G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2026G:p.C676G;ENSG00000101605:ENST00000400569:exon15:c.T2026G:p.C676G;ENSG00000101605:ENST00000261606:exon15:c.T2026G:p.C676G;	0.78402916106347	0.606
18	3135728	A	G	18	3135730	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.T2026C:p.C676R;MYOM1:NM_003803:exon15:c.T2026C:p.C676R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2026C:p.C676R;ENSG00000101605:ENST00000400569:exon15:c.T2026C:p.C676R;ENSG00000101605:ENST00000261606:exon15:c.T2026C:p.C676R;	0.90795112687343	0.81
18	3135728	A	T	18	3135730	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon15:c.T2026A:p.C676S;MYOM1:NM_003803:exon15:c.T2026A:p.C676S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon15:c.T2026A:p.C676S;ENSG00000101605:ENST00000400569:exon15:c.T2026A:p.C676S;ENSG00000101605:ENST00000261606:exon15:c.T2026A:p.C676S;	0.720529420118802	0.682
18	3135729	C	A	18	3135731	y	y	splicing	MYOM1(NM_019856:exon16:c.2026-1G>T;NM_003803:exon16:c.2026-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2026-1G>T;ENST00000356443:exon16:c.2026-1G>T;ENST00000261606:exon16:c.2026-1G>T)	.	.	0.999990361384395	0.948
18	3135729	C	G	18	3135731	y	y	splicing	MYOM1(NM_019856:exon16:c.2026-1G>C;NM_003803:exon16:c.2026-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2026-1G>C;ENST00000356443:exon16:c.2026-1G>C;ENST00000261606:exon16:c.2026-1G>C)	.	.	0.999990361384395	0.948
18	3135729	C	T	18	3135731	y	y	splicing	MYOM1(NM_019856:exon16:c.2026-1G>A;NM_003803:exon16:c.2026-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2026-1G>A;ENST00000356443:exon16:c.2026-1G>A;ENST00000261606:exon16:c.2026-1G>A)	.	.	0.999990361384395	0.948
18	3135730	T	A	18	3135732	y	y	splicing	MYOM1(NM_019856:exon16:c.2026-2A>T;NM_003803:exon16:c.2026-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2026-2A>T;ENST00000356443:exon16:c.2026-2A>T;ENST00000261606:exon16:c.2026-2A>T)	.	.	0.999988247793601	0.95
18	3135730	T	C	18	3135732	y	y	splicing	MYOM1(NM_019856:exon16:c.2026-2A>G;NM_003803:exon16:c.2026-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2026-2A>G;ENST00000356443:exon16:c.2026-2A>G;ENST00000261606:exon16:c.2026-2A>G)	.	.	0.999988247793601	0.95
18	3135730	T	G	18	3135732	y	y	splicing	MYOM1(NM_019856:exon16:c.2026-2A>C;NM_003803:exon16:c.2026-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon16:c.2026-2A>C;ENST00000356443:exon16:c.2026-2A>C;ENST00000261606:exon16:c.2026-2A>C)	.	.	0.999988247793601	0.95
18	3135731	G	A	18	3135733	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00603784822259361	0.05
18	3135731	G	C	18	3135733	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999933441495452	0.972
18	3135731	G	T	18	3135733	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.971563371770859	0.72
18	3135732	C	A	18	3135734	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.52877564404088E-4	0.008
18	3135732	C	G	18	3135734	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.3365694455716E-4	0.0
18	3135732	C	T	18	3135734	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.81441328722392E-4	0.008
18	3135733	A	C	18	3135735	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0898438857515328	0.342
18	3135733	A	G	18	3135735	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.07499425525223E-4	0.12
18	3135733	A	T	18	3135735	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999459767647863	0.834
18	3135734	G	A	18	3135736	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.21211683463399E-4	0.002
18	3135734	G	C	18	3135736	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.93258346924983E-4	0.132
18	3135734	G	T	18	3135736	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.33159678116337E-4	0.126
18	3135735	C	A	18	3135737	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.35800614939071E-4	0.012
18	3135735	C	G	18	3135737	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.62385877811643E-5	0.024
18	3135735	C	T	18	3135737	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.28373679794607E-4	0.004
18	3135736	A	C	18	3135738	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.82800978955052E-5	0.09
18	3135736	A	G	18	3135738	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.4359121175216E-5	0.002
18	3135736	A	T	18	3135738	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.990158358853295	0.936
18	3135737	A	C	18	3135739	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.032171056253902	0.282
18	3135737	A	G	18	3135739	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00411438499615745	0.056
18	3135737	A	T	18	3135739	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0208458175449738	0.338
18	3135738	G	A	18	3135740	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.09940684875439E-5	0.0
18	3135738	G	C	18	3135740	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.71959698676443E-4	0.014
18	3135738	G	T	18	3135740	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.93692353973043E-4	0.012
18	3135739	A	C	18	3135741	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.391723816328406	0.458
18	3135739	A	G	18	3135741	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00119543920538249	0.062
18	3135739	A	T	18	3135741	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.614591483459029	0.376
18	3135740	A	C	18	3135742	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0488814449776913	0.492
18	3135740	A	G	18	3135742	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.62409844551895E-4	0.042
18	3135740	A	T	18	3135742	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.125266185703208	0.486
18	3141929	A	C	18	3141931	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.51470964877986E-4	0.0
18	3141929	A	G	18	3141931	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.51470964877986E-4	0.0
18	3141929	A	T	18	3141931	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.13112516206009E-4	0.002
18	3141930	G	A	18	3141932	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.01342751532363E-5	0.0
18	3141930	G	C	18	3141932	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.01342751532363E-5	0.004
18	3141930	G	T	18	3141932	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.40839623268995E-5	0.002
18	3141931	T	A	18	3141933	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.09349730672946E-4	0.008
18	3141931	T	C	18	3141933	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.67055574909726E-4	0.006
18	3141931	T	G	18	3141933	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.34632863360074E-4	0.016
18	3141932	C	A	18	3141934	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.981051997691896	0.448
18	3141932	C	G	18	3141934	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.956581891014469	0.486
18	3141932	C	T	18	3141934	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.976906499141245	0.504
18	3141933	T	A	18	3141935	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.401642983953692	0.596
18	3141933	T	C	18	3141935	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.671459638700975	0.452
18	3141933	T	G	18	3141935	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.443751518181016	0.55
18	3141934	T	A	18	3141936	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.960796009878382	0.632
18	3141934	T	C	18	3141936	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00917241197222584	0.17
18	3141934	T	G	18	3141936	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.960923586618154	0.674
18	3141935	A	C	18	3141937	y	y	splicing	MYOM1(NM_019856:exon15:c.2025+2T>G;NM_003803:exon15:c.2025+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.2025+2T>G;ENST00000356443:exon15:c.2025+2T>G;ENST00000261606:exon15:c.2025+2T>G)	.	.	0.999972155025474	0.86
18	3141935	A	G	18	3141937	y	y	splicing	MYOM1(NM_019856:exon15:c.2025+2T>C;NM_003803:exon15:c.2025+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.2025+2T>C;ENST00000356443:exon15:c.2025+2T>C;ENST00000261606:exon15:c.2025+2T>C)	.	.	0.974575177318545	0.612
18	3141935	A	T	18	3141937	y	y	splicing	MYOM1(NM_019856:exon15:c.2025+2T>A;NM_003803:exon15:c.2025+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.2025+2T>A;ENST00000356443:exon15:c.2025+2T>A;ENST00000261606:exon15:c.2025+2T>A)	.	.	0.999971317418422	0.89
18	3141936	C	A	18	3141938	y	y	splicing	MYOM1(NM_019856:exon15:c.2025+1G>T;NM_003803:exon15:c.2025+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.2025+1G>T;ENST00000356443:exon15:c.2025+1G>T;ENST00000261606:exon15:c.2025+1G>T)	.	.	0.999973328973086	0.904
18	3141936	C	G	18	3141938	y	y	splicing	MYOM1(NM_019856:exon15:c.2025+1G>C;NM_003803:exon15:c.2025+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.2025+1G>C;ENST00000356443:exon15:c.2025+1G>C;ENST00000261606:exon15:c.2025+1G>C)	.	.	0.999973328973086	0.904
18	3141936	C	T	18	3141938	y	y	splicing	MYOM1(NM_019856:exon15:c.2025+1G>A;NM_003803:exon15:c.2025+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.2025+1G>A;ENST00000356443:exon15:c.2025+1G>A;ENST00000261606:exon15:c.2025+1G>A)	.	.	0.999955326288872	0.908
18	3141937	C	A	18	3141939	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.G2025T:p.K675N;MYOM1:NM_003803:exon14:c.G2025T:p.K675N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.G2025T:p.K675N;ENSG00000101605:ENST00000400569:exon14:c.G2025T:p.K675N;ENSG00000101605:ENST00000261606:exon14:c.G2025T:p.K675N;	0.99675512314305	0.78
18	3141937	C	G	18	3141939	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.G2025C:p.K675N;MYOM1:NM_003803:exon14:c.G2025C:p.K675N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.G2025C:p.K675N;ENSG00000101605:ENST00000400569:exon14:c.G2025C:p.K675N;ENSG00000101605:ENST00000261606:exon14:c.G2025C:p.K675N;	0.985785135123889	0.66
18	3141937	C	T	18	3141939	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon14:c.G2025A:p.K675K;MYOM1:NM_003803:exon14:c.G2025A:p.K675K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.G2025A:p.K675K;ENSG00000101605:ENST00000400569:exon14:c.G2025A:p.K675K;ENSG00000101605:ENST00000261606:exon14:c.G2025A:p.K675K;	0.586065647795602	0.72
18	3141938	T	A	18	3141940	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.A2024T:p.K675M;MYOM1:NM_003803:exon14:c.A2024T:p.K675M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.A2024T:p.K675M;ENSG00000101605:ENST00000400569:exon14:c.A2024T:p.K675M;ENSG00000101605:ENST00000261606:exon14:c.A2024T:p.K675M;	0.992372613673698	0.654
18	3141938	T	C	18	3141940	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.A2024G:p.K675R;MYOM1:NM_003803:exon14:c.A2024G:p.K675R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.A2024G:p.K675R;ENSG00000101605:ENST00000400569:exon14:c.A2024G:p.K675R;ENSG00000101605:ENST00000261606:exon14:c.A2024G:p.K675R;	0.983255554752039	0.922
18	3141938	T	G	18	3141940	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.A2024C:p.K675T;MYOM1:NM_003803:exon14:c.A2024C:p.K675T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.A2024C:p.K675T;ENSG00000101605:ENST00000400569:exon14:c.A2024C:p.K675T;ENSG00000101605:ENST00000261606:exon14:c.A2024C:p.K675T;	0.989755956682253	0.928
18	3141939	T	A	18	3141941	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon14:c.A2023T:p.K675X;MYOM1:NM_003803:exon14:c.A2023T:p.K675X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon14:c.A2023T:p.K675X;ENSG00000101605:ENST00000400569:exon14:c.A2023T:p.K675X;ENSG00000101605:ENST00000261606:exon14:c.A2023T:p.K675X;	0.967804264482539	0.672
18	3141939	T	C	18	3141941	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.A2023G:p.K675E;MYOM1:NM_003803:exon14:c.A2023G:p.K675E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.A2023G:p.K675E;ENSG00000101605:ENST00000400569:exon14:c.A2023G:p.K675E;ENSG00000101605:ENST00000261606:exon14:c.A2023G:p.K675E;	0.281108410356716	0.374
18	3141939	T	G	18	3141941	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.A2023C:p.K675Q;MYOM1:NM_003803:exon14:c.A2023C:p.K675Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.A2023C:p.K675Q;ENSG00000101605:ENST00000400569:exon14:c.A2023C:p.K675Q;ENSG00000101605:ENST00000261606:exon14:c.A2023C:p.K675Q;	0.840141043981746	0.556
18	3142060	C	A	18	3142062	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.G1902T:p.E634D;MYOM1:NM_003803:exon14:c.G1902T:p.E634D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.G1902T:p.E634D;ENSG00000101605:ENST00000400569:exon14:c.G1902T:p.E634D;ENSG00000101605:ENST00000261606:exon14:c.G1902T:p.E634D;	0.0956686207433583	0.36
18	3142060	C	G	18	3142062	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.G1902C:p.E634D;MYOM1:NM_003803:exon14:c.G1902C:p.E634D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.G1902C:p.E634D;ENSG00000101605:ENST00000400569:exon14:c.G1902C:p.E634D;ENSG00000101605:ENST00000261606:exon14:c.G1902C:p.E634D;	0.112935136007132	0.338
18	3142060	C	T	18	3142062	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon14:c.G1902A:p.E634E;MYOM1:NM_003803:exon14:c.G1902A:p.E634E;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.G1902A:p.E634E;ENSG00000101605:ENST00000400569:exon14:c.G1902A:p.E634E;ENSG00000101605:ENST00000261606:exon14:c.G1902A:p.E634E;	0.00388391416438932	0.1
18	3142061	T	A	18	3142063	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.A1901T:p.E634V;MYOM1:NM_003803:exon14:c.A1901T:p.E634V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.A1901T:p.E634V;ENSG00000101605:ENST00000400569:exon14:c.A1901T:p.E634V;ENSG00000101605:ENST00000261606:exon14:c.A1901T:p.E634V;	8.88863836724305E-4	0.016
18	3142061	T	C	18	3142063	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.A1901G:p.E634G;MYOM1:NM_003803:exon14:c.A1901G:p.E634G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.A1901G:p.E634G;ENSG00000101605:ENST00000400569:exon14:c.A1901G:p.E634G;ENSG00000101605:ENST00000261606:exon14:c.A1901G:p.E634G;	0.00133229070290336	0.09
18	3142061	T	G	18	3142063	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon14:c.A1901C:p.E634A;MYOM1:NM_003803:exon14:c.A1901C:p.E634A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon14:c.A1901C:p.E634A;ENSG00000101605:ENST00000400569:exon14:c.A1901C:p.E634A;ENSG00000101605:ENST00000261606:exon14:c.A1901C:p.E634A;	6.97403488620003E-4	0.024
18	3142062	C	A	18	3142064	y	y	splicing	MYOM1(NM_019856:exon15:c.1901-1G>T;NM_003803:exon15:c.1901-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.1901-1G>T;ENST00000356443:exon15:c.1901-1G>T;ENST00000261606:exon15:c.1901-1G>T)	.	.	0.999990361384395	0.938
18	3142062	C	G	18	3142064	y	y	splicing	MYOM1(NM_019856:exon15:c.1901-1G>C;NM_003803:exon15:c.1901-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.1901-1G>C;ENST00000356443:exon15:c.1901-1G>C;ENST00000261606:exon15:c.1901-1G>C)	.	.	0.999990361384395	0.938
18	3142062	C	T	18	3142064	y	y	splicing	MYOM1(NM_019856:exon15:c.1901-1G>A;NM_003803:exon15:c.1901-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.1901-1G>A;ENST00000356443:exon15:c.1901-1G>A;ENST00000261606:exon15:c.1901-1G>A)	.	.	0.999990361384395	0.938
18	3142063	T	A	18	3142065	y	y	splicing	MYOM1(NM_019856:exon15:c.1901-2A>T;NM_003803:exon15:c.1901-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.1901-2A>T;ENST00000356443:exon15:c.1901-2A>T;ENST00000261606:exon15:c.1901-2A>T)	.	.	0.99994568797423	0.948
18	3142063	T	C	18	3142065	y	y	splicing	MYOM1(NM_019856:exon15:c.1901-2A>G;NM_003803:exon15:c.1901-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.1901-2A>G;ENST00000356443:exon15:c.1901-2A>G;ENST00000261606:exon15:c.1901-2A>G)	.	.	0.99994568797423	0.948
18	3142063	T	G	18	3142065	y	y	splicing	MYOM1(NM_019856:exon15:c.1901-2A>C;NM_003803:exon15:c.1901-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon15:c.1901-2A>C;ENST00000356443:exon15:c.1901-2A>C;ENST00000261606:exon15:c.1901-2A>C)	.	.	0.99994568797423	0.948
18	3142064	G	A	18	3142066	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.131312823938305	0.398
18	3142064	G	C	18	3142066	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999874645984529	0.93
18	3142064	G	T	18	3142066	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.992280216352338	0.588
18	3142065	A	C	18	3142067	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.34525293101902E-5	0.0
18	3142065	A	G	18	3142067	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.43088305917226E-5	0.004
18	3142065	A	T	18	3142067	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.26118921580405E-5	0.008
18	3142066	A	C	18	3142068	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.264547450780507	0.374
18	3142066	A	G	18	3142068	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.36638392909644E-4	0.014
18	3142066	A	T	18	3142068	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.17413229436253	0.404
18	3142067	A	C	18	3142069	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.834368148623878	0.508
18	3142067	A	G	18	3142069	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.83973997629673E-4	0.106
18	3142067	A	T	18	3142069	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.777433298802749	0.522
18	3142068	A	C	18	3142070	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.025725843313753	0.23
18	3142068	A	G	18	3142070	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.49928690971778E-4	0.004
18	3142068	A	T	18	3142070	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.141551276892605	0.272
18	3142069	A	C	18	3142071	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0641147041273539	0.328
18	3142069	A	G	18	3142071	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.45830092222786E-4	0.024
18	3142069	A	T	18	3142071	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.434781372398443	0.366
18	3142070	C	A	18	3142072	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.75880914484809E-5	0.044
18	3142070	C	G	18	3142072	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.25287877215614E-5	0.044
18	3142070	C	T	18	3142072	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.13710447429496E-4	0.05
18	3142071	A	C	18	3142073	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.461765270967882	0.594
18	3142071	A	G	18	3142073	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00122080579798326	0.08
18	3142071	A	T	18	3142073	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999835394537263	0.956
18	3142072	A	C	18	3142074	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0239170439651348	0.284
18	3142072	A	G	18	3142074	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.98315880059864E-4	0.012
18	3142072	A	T	18	3142074	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0739987936194105	0.314
18	3142073	C	A	18	3142075	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.59579944659795E-5	0.04
18	3142073	C	G	18	3142075	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.3592690762711E-5	0.024
18	3142073	C	T	18	3142075	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.61441455995291E-5	0.008
18	3149135	C	A	18	3149137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.15941453541388E-5	0.0
18	3149135	C	G	18	3149137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.15941453541388E-5	0.0
18	3149135	C	T	18	3149137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.15941453541388E-5	0.0
18	3149136	T	A	18	3149138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.97483802948936E-5	0.0
18	3149136	T	C	18	3149138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.83750537723332E-5	0.0
18	3149136	T	G	18	3149138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.80109675654916E-5	0.0
18	3149137	T	A	18	3149139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.9881326329792E-5	0.0
18	3149137	T	C	18	3149139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.72214766032877E-5	0.0
18	3149137	T	G	18	3149139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.5832937607671E-5	0.012
18	3149138	C	A	18	3149140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.351477509242851	0.402
18	3149138	C	G	18	3149140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.31586760874289	0.408
18	3149138	C	T	18	3149140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.413794577462206	0.46
18	3149139	T	A	18	3149141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.483664468672118	0.552
18	3149139	T	C	18	3149141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.628933425004238	0.454
18	3149139	T	G	18	3149141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.45744690596682	0.526
18	3149140	T	A	18	3149142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.956135982401805	0.64
18	3149140	T	C	18	3149142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.175862833902646	0.25
18	3149140	T	G	18	3149142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.973435885976881	0.732
18	3149141	A	C	18	3149143	y	y	splicing	MYOM1(NM_019856:exon14:c.1900+2T>G;NM_003803:exon14:c.1900+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1900+2T>G;ENST00000356443:exon14:c.1900+2T>G;ENST00000261606:exon14:c.1900+2T>G)	.	.	0.999988247793601	0.926
18	3149141	A	G	18	3149143	y	y	splicing	MYOM1(NM_019856:exon14:c.1900+2T>C;NM_003803:exon14:c.1900+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1900+2T>C;ENST00000356443:exon14:c.1900+2T>C;ENST00000261606:exon14:c.1900+2T>C)	.	.	0.986973409415639	0.61
18	3149141	A	T	18	3149143	y	y	splicing	MYOM1(NM_019856:exon14:c.1900+2T>A;NM_003803:exon14:c.1900+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1900+2T>A;ENST00000356443:exon14:c.1900+2T>A;ENST00000261606:exon14:c.1900+2T>A)	.	.	0.999988247793601	0.926
18	3149142	C	A	18	3149144	y	y	splicing	MYOM1(NM_019856:exon14:c.1900+1G>T;NM_003803:exon14:c.1900+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1900+1G>T;ENST00000356443:exon14:c.1900+1G>T;ENST00000261606:exon14:c.1900+1G>T)	.	.	0.999986675681007	0.932
18	3149142	C	G	18	3149144	y	y	splicing	MYOM1(NM_019856:exon14:c.1900+1G>C;NM_003803:exon14:c.1900+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1900+1G>C;ENST00000356443:exon14:c.1900+1G>C;ENST00000261606:exon14:c.1900+1G>C)	.	.	0.999986675681007	0.932
18	3149142	C	T	18	3149144	y	y	splicing	MYOM1(NM_019856:exon14:c.1900+1G>A;NM_003803:exon14:c.1900+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1900+1G>A;ENST00000356443:exon14:c.1900+1G>A;ENST00000261606:exon14:c.1900+1G>A)	.	.	0.999986675681007	0.932
18	3149143	C	A	18	3149145	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon13:c.G1900T:p.E634X;MYOM1:NM_003803:exon13:c.G1900T:p.E634X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon13:c.G1900T:p.E634X;ENSG00000101605:ENST00000400569:exon13:c.G1900T:p.E634X;ENSG00000101605:ENST00000261606:exon13:c.G1900T:p.E634X;	0.999870148035947	0.948
18	3149143	C	G	18	3149145	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon13:c.G1900C:p.E634Q;MYOM1:NM_003803:exon13:c.G1900C:p.E634Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.G1900C:p.E634Q;ENSG00000101605:ENST00000400569:exon13:c.G1900C:p.E634Q;ENSG00000101605:ENST00000261606:exon13:c.G1900C:p.E634Q;	0.999927983242584	0.962
18	3149143	C	T	18	3149145	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon13:c.G1900A:p.E634K;MYOM1:NM_003803:exon13:c.G1900A:p.E634K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.G1900A:p.E634K;ENSG00000101605:ENST00000400569:exon13:c.G1900A:p.E634K;ENSG00000101605:ENST00000261606:exon13:c.G1900A:p.E634K;	0.999931514429205	0.978
18	3149144	T	A	18	3149146	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon13:c.A1899T:p.S633S;MYOM1:NM_003803:exon13:c.A1899T:p.S633S;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.A1899T:p.S633S;ENSG00000101605:ENST00000400569:exon13:c.A1899T:p.S633S;ENSG00000101605:ENST00000261606:exon13:c.A1899T:p.S633S;	0.151113569766729	0.428
18	3149144	T	C	18	3149146	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon13:c.A1899G:p.S633S;MYOM1:NM_003803:exon13:c.A1899G:p.S633S;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.A1899G:p.S633S;ENSG00000101605:ENST00000400569:exon13:c.A1899G:p.S633S;ENSG00000101605:ENST00000261606:exon13:c.A1899G:p.S633S;	0.208506852312213	0.38
18	3149144	T	G	18	3149146	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon13:c.A1899C:p.S633S;MYOM1:NM_003803:exon13:c.A1899C:p.S633S;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.A1899C:p.S633S;ENSG00000101605:ENST00000400569:exon13:c.A1899C:p.S633S;ENSG00000101605:ENST00000261606:exon13:c.A1899C:p.S633S;	0.186878418181145	0.524
18	3149145	G	A	18	3149147	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon13:c.C1898T:p.S633L;MYOM1:NM_003803:exon13:c.C1898T:p.S633L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.C1898T:p.S633L;ENSG00000101605:ENST00000400569:exon13:c.C1898T:p.S633L;ENSG00000101605:ENST00000261606:exon13:c.C1898T:p.S633L;	0.982847809712422	0.612
18	3149145	G	C	18	3149147	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon13:c.C1898G:p.S633X;MYOM1:NM_003803:exon13:c.C1898G:p.S633X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon13:c.C1898G:p.S633X;ENSG00000101605:ENST00000400569:exon13:c.C1898G:p.S633X;ENSG00000101605:ENST00000261606:exon13:c.C1898G:p.S633X;	0.912180723871245	0.68
18	3149145	G	T	18	3149147	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon13:c.C1898A:p.S633X;MYOM1:NM_003803:exon13:c.C1898A:p.S633X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon13:c.C1898A:p.S633X;ENSG00000101605:ENST00000400569:exon13:c.C1898A:p.S633X;ENSG00000101605:ENST00000261606:exon13:c.C1898A:p.S633X;	0.94179888144578	0.838
18	3149198	A	C	18	3149200	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon13:c.T1845G:p.S615R;MYOM1:NM_003803:exon13:c.T1845G:p.S615R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.T1845G:p.S615R;ENSG00000101605:ENST00000400569:exon13:c.T1845G:p.S615R;ENSG00000101605:ENST00000261606:exon13:c.T1845G:p.S615R;	8.66079633341342E-5	0.0
18	3149198	A	G	18	3149200	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon13:c.T1845C:p.S615S;MYOM1:NM_003803:exon13:c.T1845C:p.S615S;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.T1845C:p.S615S;ENSG00000101605:ENST00000400569:exon13:c.T1845C:p.S615S;ENSG00000101605:ENST00000261606:exon13:c.T1845C:p.S615S;	7.33204583699781E-5	0.006
18	3149198	A	T	18	3149200	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon13:c.T1845A:p.S615R;MYOM1:NM_003803:exon13:c.T1845A:p.S615R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.T1845A:p.S615R;ENSG00000101605:ENST00000400569:exon13:c.T1845A:p.S615R;ENSG00000101605:ENST00000261606:exon13:c.T1845A:p.S615R;	1.80459109933812E-4	0.004
18	3149199	C	A	18	3149201	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon13:c.G1844T:p.S615I;MYOM1:NM_003803:exon13:c.G1844T:p.S615I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.G1844T:p.S615I;ENSG00000101605:ENST00000400569:exon13:c.G1844T:p.S615I;ENSG00000101605:ENST00000261606:exon13:c.G1844T:p.S615I;	0.85854704018901	0.766
18	3149199	C	G	18	3149201	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon13:c.G1844C:p.S615T;MYOM1:NM_003803:exon13:c.G1844C:p.S615T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.G1844C:p.S615T;ENSG00000101605:ENST00000400569:exon13:c.G1844C:p.S615T;ENSG00000101605:ENST00000261606:exon13:c.G1844C:p.S615T;	0.351390909449765	0.548
18	3149199	C	T	18	3149201	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon13:c.G1844A:p.S615N;MYOM1:NM_003803:exon13:c.G1844A:p.S615N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon13:c.G1844A:p.S615N;ENSG00000101605:ENST00000400569:exon13:c.G1844A:p.S615N;ENSG00000101605:ENST00000261606:exon13:c.G1844A:p.S615N;	0.422642080801963	0.274
18	3149200	C	A	18	3149202	y	y	splicing	MYOM1(NM_019856:exon14:c.1844-1G>T;NM_003803:exon14:c.1844-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1844-1G>T;ENST00000356443:exon14:c.1844-1G>T;ENST00000261606:exon14:c.1844-1G>T)	.	.	0.999938990645747	0.944
18	3149200	C	G	18	3149202	y	y	splicing	MYOM1(NM_019856:exon14:c.1844-1G>C;NM_003803:exon14:c.1844-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1844-1G>C;ENST00000356443:exon14:c.1844-1G>C;ENST00000261606:exon14:c.1844-1G>C)	.	.	0.999938990645747	0.938
18	3149200	C	T	18	3149202	y	y	splicing	MYOM1(NM_019856:exon14:c.1844-1G>A;NM_003803:exon14:c.1844-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1844-1G>A;ENST00000356443:exon14:c.1844-1G>A;ENST00000261606:exon14:c.1844-1G>A)	.	.	0.999938990645747	0.946
18	3149201	T	A	18	3149203	y	y	splicing	MYOM1(NM_019856:exon14:c.1844-2A>T;NM_003803:exon14:c.1844-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1844-2A>T;ENST00000356443:exon14:c.1844-2A>T;ENST00000261606:exon14:c.1844-2A>T)	.	.	0.999964896440643	0.934
18	3149201	T	C	18	3149203	y	y	splicing	MYOM1(NM_019856:exon14:c.1844-2A>G;NM_003803:exon14:c.1844-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1844-2A>G;ENST00000356443:exon14:c.1844-2A>G;ENST00000261606:exon14:c.1844-2A>G)	.	.	0.999964896440643	0.932
18	3149201	T	G	18	3149203	y	y	splicing	MYOM1(NM_019856:exon14:c.1844-2A>C;NM_003803:exon14:c.1844-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon14:c.1844-2A>C;ENST00000356443:exon14:c.1844-2A>C;ENST00000261606:exon14:c.1844-2A>C)	.	.	0.999964896440643	0.932
18	3149202	G	A	18	3149204	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.68470890084806E-4	0.044
18	3149202	G	C	18	3149204	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.996844554429382	0.77
18	3149202	G	T	18	3149204	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0610471880652465	0.348
18	3149203	A	C	18	3149205	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.45856512979458E-5	0.002
18	3149203	A	G	18	3149205	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.81371824183975E-5	0.0
18	3149203	A	T	18	3149205	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.29987078258788E-5	0.002
18	3149204	A	C	18	3149206	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.990760873316152	0.918
18	3149204	A	G	18	3149206	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.75552511739183E-5	0.0
18	3149204	A	T	18	3149206	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0312004352930838	0.224
18	3149205	T	A	18	3149207	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.40886065434894E-5	0.006
18	3149205	T	C	18	3149207	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.9233407742776E-5	0.002
18	3149205	T	G	18	3149207	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.28748676243605E-5	0.012
18	3149206	A	C	18	3149208	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0588374884530932	0.256
18	3149206	A	G	18	3149208	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.28502562466703E-4	0.032
18	3149206	A	T	18	3149208	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.103209401927709	0.286
18	3149207	A	C	18	3149209	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.59912652592911E-4	0.04
18	3149207	A	G	18	3149209	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.37020292253976E-5	0.0
18	3149207	A	T	18	3149209	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.83432695753806E-4	0.042
18	3149208	A	C	18	3149210	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00208618352087293	0.082
18	3149208	A	G	18	3149210	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.6612373545693E-5	0.002
18	3149208	A	T	18	3149210	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00172059689872945	0.102
18	3149209	G	A	18	3149211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.94396814807331E-6	0.0
18	3149209	G	C	18	3149211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.02713604953802E-4	0.024
18	3149209	G	T	18	3149211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.67678388558347E-4	0.04
18	3149210	A	C	18	3149212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0282491220212977	0.234
18	3149210	A	G	18	3149212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.65718929395801E-4	0.02
18	3149210	A	T	18	3149212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0541524194565505	0.29
18	3149211	C	A	18	3149213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.30215576923022E-5	0.002
18	3149211	C	G	18	3149213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.57080136045368E-5	0.002
18	3149211	C	T	18	3149213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.83888890801595E-5	0.002
18	3151684	G	A	18	3151686	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.19413821089626E-4	0.002
18	3151684	G	C	18	3151686	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.64179267191333E-5	0.0
18	3151684	G	T	18	3151686	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.04409876098796E-5	0.0
18	3151685	T	A	18	3151687	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.1853252411196E-5	0.004
18	3151685	T	C	18	3151687	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.09270484925556E-5	0.002
18	3151685	T	G	18	3151687	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.93108628466209E-5	0.0
18	3151686	G	A	18	3151688	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.59340463161002E-5	0.006
18	3151686	G	C	18	3151688	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.72913505021331E-5	0.006
18	3151686	G	T	18	3151688	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.60057161380641E-4	0.012
18	3151687	C	A	18	3151689	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999984166337008	0.96
18	3151687	C	G	18	3151689	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999954028778988	0.87
18	3151687	C	T	18	3151689	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999960299864303	0.904
18	3151688	T	A	18	3151690	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.716153856665062	0.624
18	3151688	T	C	18	3151690	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.828580347618875	0.658
18	3151688	T	G	18	3151690	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.427491517423421	0.366
18	3151689	T	A	18	3151691	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999211584805053	0.866
18	3151689	T	C	18	3151691	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.127530973276098	0.356
18	3151689	T	G	18	3151691	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999095140569	0.842
18	3151690	A	C	18	3151692	y	y	splicing	MYOM1(NM_019856:exon13:c.1843+2T>G;NM_003803:exon13:c.1843+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1843+2T>G;ENST00000356443:exon13:c.1843+2T>G;ENST00000261606:exon13:c.1843+2T>G)	.	.	0.999971317418422	0.892
18	3151690	A	G	18	3151692	y	y	splicing	MYOM1(NM_019856:exon13:c.1843+2T>C;NM_003803:exon13:c.1843+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1843+2T>C;ENST00000356443:exon13:c.1843+2T>C;ENST00000261606:exon13:c.1843+2T>C)	.	.	0.967788928859094	0.574
18	3151690	A	T	18	3151692	y	y	splicing	MYOM1(NM_019856:exon13:c.1843+2T>A;NM_003803:exon13:c.1843+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1843+2T>A;ENST00000356443:exon13:c.1843+2T>A;ENST00000261606:exon13:c.1843+2T>A)	.	.	0.999963671976247	0.92
18	3151691	C	A	18	3151693	y	y	splicing	MYOM1(NM_019856:exon13:c.1843+1G>T;NM_003803:exon13:c.1843+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1843+1G>T;ENST00000356443:exon13:c.1843+1G>T;ENST00000261606:exon13:c.1843+1G>T)	.	.	0.999985532734767	0.926
18	3151691	C	G	18	3151693	y	y	splicing	MYOM1(NM_019856:exon13:c.1843+1G>C;NM_003803:exon13:c.1843+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1843+1G>C;ENST00000356443:exon13:c.1843+1G>C;ENST00000261606:exon13:c.1843+1G>C)	.	.	0.999985532734767	0.936
18	3151691	C	T	18	3151693	y	y	splicing	MYOM1(NM_019856:exon13:c.1843+1G>A;NM_003803:exon13:c.1843+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1843+1G>A;ENST00000356443:exon13:c.1843+1G>A;ENST00000261606:exon13:c.1843+1G>A)	.	.	0.999985532734767	0.934
18	3151692	T	A	18	3151694	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.A1843T:p.S615C;MYOM1:NM_003803:exon12:c.A1843T:p.S615C;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1843T:p.S615C;ENSG00000101605:ENST00000400569:exon12:c.A1843T:p.S615C;ENSG00000101605:ENST00000261606:exon12:c.A1843T:p.S615C;	0.0609261293648611	0.288
18	3151692	T	C	18	3151694	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.A1843G:p.S615G;MYOM1:NM_003803:exon12:c.A1843G:p.S615G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1843G:p.S615G;ENSG00000101605:ENST00000400569:exon12:c.A1843G:p.S615G;ENSG00000101605:ENST00000261606:exon12:c.A1843G:p.S615G;	4.74518630531169E-4	0.042
18	3151692	T	G	18	3151694	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.A1843C:p.S615R;MYOM1:NM_003803:exon12:c.A1843C:p.S615R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1843C:p.S615R;ENSG00000101605:ENST00000400569:exon12:c.A1843C:p.S615R;ENSG00000101605:ENST00000261606:exon12:c.A1843C:p.S615R;	0.013298980833656	0.194
18	3151693	T	A	18	3151695	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.A1842T:p.K614N;MYOM1:NM_003803:exon12:c.A1842T:p.K614N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1842T:p.K614N;ENSG00000101605:ENST00000400569:exon12:c.A1842T:p.K614N;ENSG00000101605:ENST00000261606:exon12:c.A1842T:p.K614N;	0.878491938959678	0.682
18	3151693	T	C	18	3151695	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon12:c.A1842G:p.K614K;MYOM1:NM_003803:exon12:c.A1842G:p.K614K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1842G:p.K614K;ENSG00000101605:ENST00000400569:exon12:c.A1842G:p.K614K;ENSG00000101605:ENST00000261606:exon12:c.A1842G:p.K614K;	0.374300422916821	0.31
18	3151693	T	G	18	3151695	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.A1842C:p.K614N;MYOM1:NM_003803:exon12:c.A1842C:p.K614N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1842C:p.K614N;ENSG00000101605:ENST00000400569:exon12:c.A1842C:p.K614N;ENSG00000101605:ENST00000261606:exon12:c.A1842C:p.K614N;	0.903578638588346	0.602
18	3151694	T	A	18	3151696	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.A1841T:p.K614I;MYOM1:NM_003803:exon12:c.A1841T:p.K614I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1841T:p.K614I;ENSG00000101605:ENST00000400569:exon12:c.A1841T:p.K614I;ENSG00000101605:ENST00000261606:exon12:c.A1841T:p.K614I;	0.740590106197023	0.622
18	3151694	T	C	18	3151696	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.A1841G:p.K614R;MYOM1:NM_003803:exon12:c.A1841G:p.K614R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1841G:p.K614R;ENSG00000101605:ENST00000400569:exon12:c.A1841G:p.K614R;ENSG00000101605:ENST00000261606:exon12:c.A1841G:p.K614R;	2.32738212649921E-4	0.022
18	3151694	T	G	18	3151696	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.A1841C:p.K614T;MYOM1:NM_003803:exon12:c.A1841C:p.K614T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.A1841C:p.K614T;ENSG00000101605:ENST00000400569:exon12:c.A1841C:p.K614T;ENSG00000101605:ENST00000261606:exon12:c.A1841C:p.K614T;	4.27648356534731E-4	0.004
18	3151890	A	C	18	3151892	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.T1645G:p.C549G;MYOM1:NM_003803:exon12:c.T1645G:p.C549G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.T1645G:p.C549G;ENSG00000101605:ENST00000400569:exon12:c.T1645G:p.C549G;ENSG00000101605:ENST00000261606:exon12:c.T1645G:p.C549G;	0.152095752515901	0.422
18	3151890	A	G	18	3151892	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.T1645C:p.C549R;MYOM1:NM_003803:exon12:c.T1645C:p.C549R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.T1645C:p.C549R;ENSG00000101605:ENST00000400569:exon12:c.T1645C:p.C549R;ENSG00000101605:ENST00000261606:exon12:c.T1645C:p.C549R;	0.289947901995536	0.368
18	3151890	A	T	18	3151892	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.T1645A:p.C549S;MYOM1:NM_003803:exon12:c.T1645A:p.C549S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.T1645A:p.C549S;ENSG00000101605:ENST00000400569:exon12:c.T1645A:p.C549S;ENSG00000101605:ENST00000261606:exon12:c.T1645A:p.C549S;	0.259335052533441	0.462
18	3151891	C	A	18	3151893	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.G1644T:p.K548N;MYOM1:NM_003803:exon12:c.G1644T:p.K548N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.G1644T:p.K548N;ENSG00000101605:ENST00000400569:exon12:c.G1644T:p.K548N;ENSG00000101605:ENST00000261606:exon12:c.G1644T:p.K548N;	0.909908810338118	0.546
18	3151891	C	G	18	3151893	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon12:c.G1644C:p.K548N;MYOM1:NM_003803:exon12:c.G1644C:p.K548N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.G1644C:p.K548N;ENSG00000101605:ENST00000400569:exon12:c.G1644C:p.K548N;ENSG00000101605:ENST00000261606:exon12:c.G1644C:p.K548N;	0.318399341278598	0.364
18	3151891	C	T	18	3151893	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon12:c.G1644A:p.K548K;MYOM1:NM_003803:exon12:c.G1644A:p.K548K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon12:c.G1644A:p.K548K;ENSG00000101605:ENST00000400569:exon12:c.G1644A:p.K548K;ENSG00000101605:ENST00000261606:exon12:c.G1644A:p.K548K;	0.00134982430123731	0.034
18	3151892	C	A	18	3151894	y	y	splicing	MYOM1(NM_019856:exon13:c.1644-1G>T;NM_003803:exon13:c.1644-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1644-1G>T;ENST00000356443:exon13:c.1644-1G>T;ENST00000261606:exon13:c.1644-1G>T)	.	.	0.999967335026411	0.93
18	3151892	C	G	18	3151894	y	y	splicing	MYOM1(NM_019856:exon13:c.1644-1G>C;NM_003803:exon13:c.1644-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1644-1G>C;ENST00000356443:exon13:c.1644-1G>C;ENST00000261606:exon13:c.1644-1G>C)	.	.	0.999915710762489	0.93
18	3151892	C	T	18	3151894	y	y	splicing	MYOM1(NM_019856:exon13:c.1644-1G>A;NM_003803:exon13:c.1644-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1644-1G>A;ENST00000356443:exon13:c.1644-1G>A;ENST00000261606:exon13:c.1644-1G>A)	.	.	0.999967335026411	0.936
18	3151893	T	A	18	3151895	y	y	splicing	MYOM1(NM_019856:exon13:c.1644-2A>T;NM_003803:exon13:c.1644-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1644-2A>T;ENST00000356443:exon13:c.1644-2A>T;ENST00000261606:exon13:c.1644-2A>T)	.	.	0.999966203349492	0.94
18	3151893	T	C	18	3151895	y	y	splicing	MYOM1(NM_019856:exon13:c.1644-2A>G;NM_003803:exon13:c.1644-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1644-2A>G;ENST00000356443:exon13:c.1644-2A>G;ENST00000261606:exon13:c.1644-2A>G)	.	.	0.999966203349492	0.944
18	3151893	T	G	18	3151895	y	y	splicing	MYOM1(NM_019856:exon13:c.1644-2A>C;NM_003803:exon13:c.1644-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon13:c.1644-2A>C;ENST00000356443:exon13:c.1644-2A>C;ENST00000261606:exon13:c.1644-2A>C)	.	.	0.999966203349492	0.94
18	3151894	A	C	18	3151896	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.995186438781909	0.68
18	3151894	A	G	18	3151896	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.95705930315261E-5	0.008
18	3151894	A	T	18	3151896	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.191061820775973	0.268
18	3151895	A	C	18	3151897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.4289632391335E-5	0.0
18	3151895	A	G	18	3151897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.21450452398665E-5	0.0
18	3151895	A	T	18	3151897	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.08921975997741E-5	0.0
18	3151896	A	C	18	3151898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0151605871530076	0.236
18	3151896	A	G	18	3151898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.97200653540588E-4	0.002
18	3151896	A	T	18	3151898	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0205451311405589	0.246
18	3151897	G	A	18	3151899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.39742844413954E-6	0.0
18	3151897	G	C	18	3151899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.90676277098931E-4	0.122
18	3151897	G	T	18	3151899	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.03564175778113E-4	0.086
18	3151898	G	A	18	3151900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.61908971649499E-5	0.0
18	3151898	G	C	18	3151900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.05934236818434E-4	0.03
18	3151898	G	T	18	3151900	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.08503155709761E-4	0.032
18	3151899	A	C	18	3151901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.50900512454903E-4	0.03
18	3151899	A	G	18	3151901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.84226505792686E-5	0.0
18	3151899	A	T	18	3151901	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00176578612695194	0.046
18	3151900	A	C	18	3151902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999765344897893	0.904
18	3151900	A	G	18	3151902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.54139791312696E-4	0.008
18	3151900	A	T	18	3151902	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0078028428773421	0.254
18	3151901	T	A	18	3151903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.60800724007982E-5	0.002
18	3151901	T	C	18	3151903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.09358555370121E-4	0.014
18	3151901	T	G	18	3151903	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.79619177070635E-5	0.02
18	3151902	G	A	18	3151904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.80248286061925E-5	0.006
18	3151902	G	C	18	3151904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.85887236746444E-4	0.028
18	3151902	G	T	18	3151904	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.76963848465629E-4	0.05
18	3151903	A	C	18	3151905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00698920664222375	0.274
18	3151903	A	G	18	3151905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.7371189914915E-4	0.02
18	3151903	A	T	18	3151905	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00842793205211805	0.22
18	3154937	G	A	18	3154939	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.47597324068438E-5	0.08
18	3154937	G	C	18	3154939	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.93268055212231E-5	0.002
18	3154937	G	T	18	3154939	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.79197504274788E-5	0.002
18	3154938	C	A	18	3154940	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.43507997679251E-4	0.134
18	3154938	C	G	18	3154940	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.67970795134908E-5	0.01
18	3154938	C	T	18	3154940	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.67970795134908E-5	0.042
18	3154939	A	C	18	3154941	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99782796005333	0.756
18	3154939	A	G	18	3154941	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998446245195806	0.798
18	3154939	A	T	18	3154941	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998673660561388	0.712
18	3154940	C	A	18	3154942	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999953115563996	0.99
18	3154940	C	G	18	3154942	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999986436407997	0.986
18	3154940	C	T	18	3154942	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999956967524461	0.992
18	3154941	T	A	18	3154943	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999636438894486	0.854
18	3154941	T	C	18	3154943	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999501862928737	0.798
18	3154941	T	G	18	3154943	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999891818340032	0.82
18	3154942	A	C	18	3154944	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.17459110449553E-4	0.204
18	3154942	A	G	18	3154944	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0799736114009459	0.25
18	3154942	A	T	18	3154944	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.03419020075168E-4	0.198
18	3154943	A	C	18	3154945	y	y	splicing	MYOM1(NM_019856:exon12:c.1643+2T>G;NM_003803:exon12:c.1643+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1643+2T>G;ENST00000356443:exon12:c.1643+2T>G;ENST00000261606:exon12:c.1643+2T>G)	.	.	0.999963200718732	0.958
18	3154943	A	G	18	3154945	y	y	splicing	MYOM1(NM_019856:exon12:c.1643+2T>C;NM_003803:exon12:c.1643+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1643+2T>C;ENST00000356443:exon12:c.1643+2T>C;ENST00000261606:exon12:c.1643+2T>C)	.	.	0.983296588806814	0.634
18	3154943	A	T	18	3154945	y	y	splicing	MYOM1(NM_019856:exon12:c.1643+2T>A;NM_003803:exon12:c.1643+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1643+2T>A;ENST00000356443:exon12:c.1643+2T>A;ENST00000261606:exon12:c.1643+2T>A)	.	.	0.999963200718732	0.956
18	3154944	C	A	18	3154946	y	y	splicing	MYOM1(NM_019856:exon12:c.1643+1G>T;NM_003803:exon12:c.1643+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1643+1G>T;ENST00000356443:exon12:c.1643+1G>T;ENST00000261606:exon12:c.1643+1G>T)	.	.	0.999930557778967	0.952
18	3154944	C	G	18	3154946	y	y	splicing	MYOM1(NM_019856:exon12:c.1643+1G>C;NM_003803:exon12:c.1643+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1643+1G>C;ENST00000356443:exon12:c.1643+1G>C;ENST00000261606:exon12:c.1643+1G>C)	.	.	0.999954699410158	0.95
18	3154944	C	T	18	3154946	y	y	splicing	MYOM1(NM_019856:exon12:c.1643+1G>A;NM_003803:exon12:c.1643+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1643+1G>A;ENST00000356443:exon12:c.1643+1G>A;ENST00000261606:exon12:c.1643+1G>A)	.	.	0.999930557778967	0.952
18	3154945	T	A	18	3154947	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.A1643T:p.K548M;MYOM1:NM_003803:exon11:c.A1643T:p.K548M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.A1643T:p.K548M;ENSG00000101605:ENST00000400569:exon11:c.A1643T:p.K548M;ENSG00000101605:ENST00000261606:exon11:c.A1643T:p.K548M;	0.266705673674076	0.408
18	3154945	T	C	18	3154947	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.A1643G:p.K548R;MYOM1:NM_003803:exon11:c.A1643G:p.K548R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.A1643G:p.K548R;ENSG00000101605:ENST00000400569:exon11:c.A1643G:p.K548R;ENSG00000101605:ENST00000261606:exon11:c.A1643G:p.K548R;	1.112273161056E-4	0.136
18	3154945	T	G	18	3154947	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.A1643C:p.K548T;MYOM1:NM_003803:exon11:c.A1643C:p.K548T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.A1643C:p.K548T;ENSG00000101605:ENST00000400569:exon11:c.A1643C:p.K548T;ENSG00000101605:ENST00000261606:exon11:c.A1643C:p.K548T;	0.823145910801611	0.528
18	3154946	T	A	18	3154948	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon11:c.A1642T:p.K548X;MYOM1:NM_003803:exon11:c.A1642T:p.K548X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon11:c.A1642T:p.K548X;ENSG00000101605:ENST00000400569:exon11:c.A1642T:p.K548X;ENSG00000101605:ENST00000261606:exon11:c.A1642T:p.K548X;	0.999948541746589	0.96
18	3154946	T	C	18	3154948	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.A1642G:p.K548E;MYOM1:NM_003803:exon11:c.A1642G:p.K548E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.A1642G:p.K548E;ENSG00000101605:ENST00000400569:exon11:c.A1642G:p.K548E;ENSG00000101605:ENST00000261606:exon11:c.A1642G:p.K548E;	0.99965004052143	0.988
18	3154946	T	G	18	3154948	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.A1642C:p.K548Q;MYOM1:NM_003803:exon11:c.A1642C:p.K548Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.A1642C:p.K548Q;ENSG00000101605:ENST00000400569:exon11:c.A1642C:p.K548Q;ENSG00000101605:ENST00000261606:exon11:c.A1642C:p.K548Q;	0.999596827286807	0.988
18	3154947	A	C	18	3154949	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.T1641G:p.D547E;MYOM1:NM_003803:exon11:c.T1641G:p.D547E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.T1641G:p.D547E;ENSG00000101605:ENST00000400569:exon11:c.T1641G:p.D547E;ENSG00000101605:ENST00000261606:exon11:c.T1641G:p.D547E;	5.80723214232291E-5	0.074
18	3154947	A	G	18	3154949	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon11:c.T1641C:p.D547D;MYOM1:NM_003803:exon11:c.T1641C:p.D547D;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.T1641C:p.D547D;ENSG00000101605:ENST00000400569:exon11:c.T1641C:p.D547D;ENSG00000101605:ENST00000261606:exon11:c.T1641C:p.D547D;	6.4676956918502E-6	0.018
18	3154947	A	T	18	3154949	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.T1641A:p.D547E;MYOM1:NM_003803:exon11:c.T1641A:p.D547E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.T1641A:p.D547E;ENSG00000101605:ENST00000400569:exon11:c.T1641A:p.D547E;ENSG00000101605:ENST00000261606:exon11:c.T1641A:p.D547E;	2.88424891874226E-5	0.03
18	3155085	A	C	18	3155087	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.T1503G:p.D501E;MYOM1:NM_003803:exon11:c.T1503G:p.D501E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.T1503G:p.D501E;ENSG00000101605:ENST00000400569:exon11:c.T1503G:p.D501E;ENSG00000101605:ENST00000261606:exon11:c.T1503G:p.D501E;	0.162662563955996	0.526
18	3155085	A	G	18	3155087	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon11:c.T1503C:p.D501D;MYOM1:NM_003803:exon11:c.T1503C:p.D501D;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.T1503C:p.D501D;ENSG00000101605:ENST00000400569:exon11:c.T1503C:p.D501D;ENSG00000101605:ENST00000261606:exon11:c.T1503C:p.D501D;	0.00266362626714828	0.068
18	3155085	A	T	18	3155087	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.T1503A:p.D501E;MYOM1:NM_003803:exon11:c.T1503A:p.D501E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.T1503A:p.D501E;ENSG00000101605:ENST00000400569:exon11:c.T1503A:p.D501E;ENSG00000101605:ENST00000261606:exon11:c.T1503A:p.D501E;	0.130699068868745	0.546
18	3155086	T	A	18	3155088	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.A1502T:p.D501V;MYOM1:NM_003803:exon11:c.A1502T:p.D501V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.A1502T:p.D501V;ENSG00000101605:ENST00000400569:exon11:c.A1502T:p.D501V;ENSG00000101605:ENST00000261606:exon11:c.A1502T:p.D501V;	0.301225346385386	0.526
18	3155086	T	C	18	3155088	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.A1502G:p.D501G;MYOM1:NM_003803:exon11:c.A1502G:p.D501G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.A1502G:p.D501G;ENSG00000101605:ENST00000400569:exon11:c.A1502G:p.D501G;ENSG00000101605:ENST00000261606:exon11:c.A1502G:p.D501G;	0.518525945481487	0.668
18	3155086	T	G	18	3155088	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon11:c.A1502C:p.D501A;MYOM1:NM_003803:exon11:c.A1502C:p.D501A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon11:c.A1502C:p.D501A;ENSG00000101605:ENST00000400569:exon11:c.A1502C:p.D501A;ENSG00000101605:ENST00000261606:exon11:c.A1502C:p.D501A;	0.238893448428804	0.644
18	3155087	C	A	18	3155089	y	y	splicing	MYOM1(NM_019856:exon12:c.1502-1G>T;NM_003803:exon12:c.1502-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1502-1G>T;ENST00000356443:exon12:c.1502-1G>T;ENST00000261606:exon12:c.1502-1G>T)	.	.	0.999981760802075	0.936
18	3155087	C	G	18	3155089	y	y	splicing	MYOM1(NM_019856:exon12:c.1502-1G>C;NM_003803:exon12:c.1502-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1502-1G>C;ENST00000356443:exon12:c.1502-1G>C;ENST00000261606:exon12:c.1502-1G>C)	.	.	0.999981760802075	0.936
18	3155087	C	T	18	3155089	y	y	splicing	MYOM1(NM_019856:exon12:c.1502-1G>A;NM_003803:exon12:c.1502-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1502-1G>A;ENST00000356443:exon12:c.1502-1G>A;ENST00000261606:exon12:c.1502-1G>A)	.	.	0.999981760802075	0.936
18	3155088	T	A	18	3155090	y	y	splicing	MYOM1(NM_019856:exon12:c.1502-2A>T;NM_003803:exon12:c.1502-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1502-2A>T;ENST00000356443:exon12:c.1502-2A>T;ENST00000261606:exon12:c.1502-2A>T)	.	.	0.999966203349492	0.926
18	3155088	T	C	18	3155090	y	y	splicing	MYOM1(NM_019856:exon12:c.1502-2A>G;NM_003803:exon12:c.1502-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1502-2A>G;ENST00000356443:exon12:c.1502-2A>G;ENST00000261606:exon12:c.1502-2A>G)	.	.	0.999966203349492	0.93
18	3155088	T	G	18	3155090	y	y	splicing	MYOM1(NM_019856:exon12:c.1502-2A>C;NM_003803:exon12:c.1502-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon12:c.1502-2A>C;ENST00000356443:exon12:c.1502-2A>C;ENST00000261606:exon12:c.1502-2A>C)	.	.	0.999966203349492	0.93
18	3155089	G	A	18	3155091	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.48551143896999E-4	0.092
18	3155089	G	C	18	3155091	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999431146590306	0.93
18	3155089	G	T	18	3155091	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.355969486630846	0.566
18	3155090	T	A	18	3155092	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.20766730338121E-5	0.018
18	3155090	T	C	18	3155092	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.6244975820914E-5	0.0
18	3155090	T	G	18	3155092	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.84191487310006E-5	0.014
18	3155091	G	A	18	3155093	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.13852674047099E-5	0.056
18	3155091	G	C	18	3155093	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.35325923205505E-4	0.082
18	3155091	G	T	18	3155093	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.95721918229541E-4	0.11
18	3155092	G	A	18	3155094	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.74248301311077E-5	0.056
18	3155092	G	C	18	3155094	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.29141606099602E-4	0.14
18	3155092	G	T	18	3155094	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00122139969708436	0.134
18	3155093	A	C	18	3155095	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.0080059167313E-4	0.144
18	3155093	A	G	18	3155095	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.2330907216013E-5	0.006
18	3155093	A	T	18	3155095	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00111206328336461	0.122
18	3155094	G	A	18	3155096	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.72667405869022E-5	0.002
18	3155094	G	C	18	3155096	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.36958323833816E-4	0.066
18	3155094	G	T	18	3155096	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.3018703822135E-4	0.09
18	3155095	A	C	18	3155097	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0208101890762029	0.214
18	3155095	A	G	18	3155097	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00129539391320916	0.064
18	3155095	A	T	18	3155097	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0213003335341491	0.24
18	3155096	C	A	18	3155098	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.52154692189707E-5	0.0
18	3155096	C	G	18	3155098	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.26727396025017E-5	0.0
18	3155096	C	T	18	3155098	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.82519687004994E-5	0.0
18	3155097	A	C	18	3155099	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0034423117103234	0.18
18	3155097	A	G	18	3155099	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.25636797783398E-4	0.076
18	3155097	A	T	18	3155099	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999646678253447	0.96
18	3155098	G	A	18	3155100	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.26848964498332E-5	0.0
18	3155098	G	C	18	3155100	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.74936162202378E-4	0.002
18	3155098	G	T	18	3155100	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.89470364442482E-4	0.01
18	3164268	G	A	18	3164270	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.89210916601576E-5	0.0
18	3164268	G	C	18	3164270	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.89210916601576E-5	0.0
18	3164268	G	T	18	3164270	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.89210916601576E-5	0.0
18	3164269	G	A	18	3164271	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.89210916601576E-5	0.0
18	3164269	G	C	18	3164271	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.89210916601576E-5	0.0
18	3164269	G	T	18	3164271	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.89210916601576E-5	0.0
18	3164270	A	C	18	3164272	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.92726982138567E-4	0.12
18	3164270	A	G	18	3164272	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00192770678377421	0.202
18	3164270	A	T	18	3164272	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00175136603434385	0.144
18	3164271	C	A	18	3164273	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.496673599239262	0.41
18	3164271	C	G	18	3164273	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.662247289419585	0.416
18	3164271	C	T	18	3164273	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.583846828957611	0.468
18	3164272	T	A	18	3164274	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0439047016194172	0.322
18	3164272	T	C	18	3164274	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0763957753595256	0.306
18	3164272	T	G	18	3164274	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.058605263399763	0.354
18	3164273	T	A	18	3164275	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.749865811132431	0.482
18	3164273	T	C	18	3164275	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0180740873692318	0.14
18	3164273	T	G	18	3164275	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.587389454980191	0.496
18	3164274	A	C	18	3164276	y	y	splicing	MYOM1(NM_019856:exon11:c.1501+2T>G;NM_003803:exon11:c.1501+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1501+2T>G;ENST00000356443:exon11:c.1501+2T>G;ENST00000261606:exon11:c.1501+2T>G)	.	.	0.99994568797423	0.944
18	3164274	A	G	18	3164276	y	y	splicing	MYOM1(NM_019856:exon11:c.1501+2T>C;NM_003803:exon11:c.1501+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1501+2T>C;ENST00000356443:exon11:c.1501+2T>C;ENST00000261606:exon11:c.1501+2T>C)	.	.	0.938213338311806	0.63
18	3164274	A	T	18	3164276	y	y	splicing	MYOM1(NM_019856:exon11:c.1501+2T>A;NM_003803:exon11:c.1501+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1501+2T>A;ENST00000356443:exon11:c.1501+2T>A;ENST00000261606:exon11:c.1501+2T>A)	.	.	0.99994568797423	0.938
18	3164275	C	A	18	3164277	y	y	splicing	MYOM1(NM_019856:exon11:c.1501+1G>T;NM_003803:exon11:c.1501+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1501+1G>T;ENST00000356443:exon11:c.1501+1G>T;ENST00000261606:exon11:c.1501+1G>T)	.	.	0.999986675681007	0.934
18	3164275	C	G	18	3164277	y	y	splicing	MYOM1(NM_019856:exon11:c.1501+1G>C;NM_003803:exon11:c.1501+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1501+1G>C;ENST00000356443:exon11:c.1501+1G>C;ENST00000261606:exon11:c.1501+1G>C)	.	.	0.999986675681007	0.934
18	3164275	C	T	18	3164277	y	y	splicing	MYOM1(NM_019856:exon11:c.1501+1G>A;NM_003803:exon11:c.1501+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1501+1G>A;ENST00000356443:exon11:c.1501+1G>A;ENST00000261606:exon11:c.1501+1G>A)	.	.	0.999986675681007	0.934
18	3164276	C	A	18	3164278	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1501T:p.D501Y;MYOM1:NM_003803:exon10:c.G1501T:p.D501Y;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1501T:p.D501Y;ENSG00000101605:ENST00000400569:exon10:c.G1501T:p.D501Y;ENSG00000101605:ENST00000261606:exon10:c.G1501T:p.D501Y;	0.999166317876262	0.918
18	3164276	C	G	18	3164278	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1501C:p.D501H;MYOM1:NM_003803:exon10:c.G1501C:p.D501H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1501C:p.D501H;ENSG00000101605:ENST00000400569:exon10:c.G1501C:p.D501H;ENSG00000101605:ENST00000261606:exon10:c.G1501C:p.D501H;	0.999283239794618	0.928
18	3164276	C	T	18	3164278	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1501A:p.D501N;MYOM1:NM_003803:exon10:c.G1501A:p.D501N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1501A:p.D501N;ENSG00000101605:ENST00000400569:exon10:c.G1501A:p.D501N;ENSG00000101605:ENST00000261606:exon10:c.G1501A:p.D501N;	0.99859139879097	0.888
18	3164277	T	A	18	3164279	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon10:c.A1500T:p.R500R;MYOM1:NM_003803:exon10:c.A1500T:p.R500R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.A1500T:p.R500R;ENSG00000101605:ENST00000400569:exon10:c.A1500T:p.R500R;ENSG00000101605:ENST00000261606:exon10:c.A1500T:p.R500R;	0.183115458146314	0.406
18	3164277	T	C	18	3164279	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon10:c.A1500G:p.R500R;MYOM1:NM_003803:exon10:c.A1500G:p.R500R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.A1500G:p.R500R;ENSG00000101605:ENST00000400569:exon10:c.A1500G:p.R500R;ENSG00000101605:ENST00000261606:exon10:c.A1500G:p.R500R;	0.18513003334491	0.318
18	3164277	T	G	18	3164279	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon10:c.A1500C:p.R500R;MYOM1:NM_003803:exon10:c.A1500C:p.R500R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.A1500C:p.R500R;ENSG00000101605:ENST00000400569:exon10:c.A1500C:p.R500R;ENSG00000101605:ENST00000261606:exon10:c.A1500C:p.R500R;	0.166662030097305	0.488
18	3164278	C	A	18	3164280	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1499T:p.R500L;MYOM1:NM_003803:exon10:c.G1499T:p.R500L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1499T:p.R500L;ENSG00000101605:ENST00000400569:exon10:c.G1499T:p.R500L;ENSG00000101605:ENST00000261606:exon10:c.G1499T:p.R500L;	0.971858687831794	0.794
18	3164278	C	G	18	3164280	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1499C:p.R500P;MYOM1:NM_003803:exon10:c.G1499C:p.R500P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1499C:p.R500P;ENSG00000101605:ENST00000400569:exon10:c.G1499C:p.R500P;ENSG00000101605:ENST00000261606:exon10:c.G1499C:p.R500P;	0.92338872348748	0.764
18	3164278	C	T	18	3164280	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1499A:p.R500Q;MYOM1:NM_003803:exon10:c.G1499A:p.R500Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1499A:p.R500Q;ENSG00000101605:ENST00000400569:exon10:c.G1499A:p.R500Q;ENSG00000101605:ENST00000261606:exon10:c.G1499A:p.R500Q;	0.92338872348748	0.77
18	3164436	T	A	18	3164438	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon10:c.A1341T:p.G447G;MYOM1:NM_003803:exon10:c.A1341T:p.G447G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.A1341T:p.G447G;ENSG00000101605:ENST00000400569:exon10:c.A1341T:p.G447G;ENSG00000101605:ENST00000261606:exon10:c.A1341T:p.G447G;	4.23929358742361E-5	0.014
18	3164436	T	C	18	3164438	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon10:c.A1341G:p.G447G;MYOM1:NM_003803:exon10:c.A1341G:p.G447G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.A1341G:p.G447G;ENSG00000101605:ENST00000400569:exon10:c.A1341G:p.G447G;ENSG00000101605:ENST00000261606:exon10:c.A1341G:p.G447G;	1.08762330895275E-4	0.028
18	3164436	T	G	18	3164438	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon10:c.A1341C:p.G447G;MYOM1:NM_003803:exon10:c.A1341C:p.G447G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.A1341C:p.G447G;ENSG00000101605:ENST00000400569:exon10:c.A1341C:p.G447G;ENSG00000101605:ENST00000261606:exon10:c.A1341C:p.G447G;	2.11599319770877E-4	0.002
18	3164437	C	A	18	3164439	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1340T:p.G447V;MYOM1:NM_003803:exon10:c.G1340T:p.G447V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1340T:p.G447V;ENSG00000101605:ENST00000400569:exon10:c.G1340T:p.G447V;ENSG00000101605:ENST00000261606:exon10:c.G1340T:p.G447V;	0.999924327323902	0.976
18	3164437	C	G	18	3164439	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1340C:p.G447A;MYOM1:NM_003803:exon10:c.G1340C:p.G447A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1340C:p.G447A;ENSG00000101605:ENST00000400569:exon10:c.G1340C:p.G447A;ENSG00000101605:ENST00000261606:exon10:c.G1340C:p.G447A;	0.999866720215814	0.988
18	3164437	C	T	18	3164439	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon10:c.G1340A:p.G447E;MYOM1:NM_003803:exon10:c.G1340A:p.G447E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon10:c.G1340A:p.G447E;ENSG00000101605:ENST00000400569:exon10:c.G1340A:p.G447E;ENSG00000101605:ENST00000261606:exon10:c.G1340A:p.G447E;	0.999568275564633	0.956
18	3164438	C	A	18	3164440	y	y	splicing	MYOM1(NM_019856:exon11:c.1340-1G>T;NM_003803:exon11:c.1340-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1340-1G>T;ENST00000356443:exon11:c.1340-1G>T;ENST00000261606:exon11:c.1340-1G>T)	.	.	0.999984967332678	0.946
18	3164438	C	G	18	3164440	y	y	splicing	MYOM1(NM_019856:exon11:c.1340-1G>C;NM_003803:exon11:c.1340-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1340-1G>C;ENST00000356443:exon11:c.1340-1G>C;ENST00000261606:exon11:c.1340-1G>C)	.	.	0.999984967332678	0.946
18	3164438	C	T	18	3164440	y	y	splicing	MYOM1(NM_019856:exon11:c.1340-1G>A;NM_003803:exon11:c.1340-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1340-1G>A;ENST00000356443:exon11:c.1340-1G>A;ENST00000261606:exon11:c.1340-1G>A)	.	.	0.999984967332678	0.946
18	3164439	T	A	18	3164441	y	y	splicing	MYOM1(NM_019856:exon11:c.1340-2A>T;NM_003803:exon11:c.1340-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1340-2A>T;ENST00000356443:exon11:c.1340-2A>T;ENST00000261606:exon11:c.1340-2A>T)	.	.	0.999988624979899	0.936
18	3164439	T	C	18	3164441	y	y	splicing	MYOM1(NM_019856:exon11:c.1340-2A>G;NM_003803:exon11:c.1340-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1340-2A>G;ENST00000356443:exon11:c.1340-2A>G;ENST00000261606:exon11:c.1340-2A>G)	.	.	0.999988624979899	0.936
18	3164439	T	G	18	3164441	y	y	splicing	MYOM1(NM_019856:exon11:c.1340-2A>C;NM_003803:exon11:c.1340-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon11:c.1340-2A>C;ENST00000356443:exon11:c.1340-2A>C;ENST00000261606:exon11:c.1340-2A>C)	.	.	0.999988624979899	0.936
18	3164440	A	C	18	3164442	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.91448237855358	0.596
18	3164440	A	G	18	3164442	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.36771021062697E-4	0.042
18	3164440	A	T	18	3164442	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.169032881930393	0.34
18	3164441	G	A	18	3164443	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.88594680916414E-5	0.0
18	3164441	G	C	18	3164443	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.97151438965859E-4	0.02
18	3164441	G	T	18	3164443	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.12364991038369E-4	0.022
18	3164442	A	C	18	3164444	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.693080661273589	0.44
18	3164442	A	G	18	3164444	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.79451598885989E-4	0.176
18	3164442	A	T	18	3164444	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.39722469123609	0.416
18	3164443	A	C	18	3164445	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.694296153694469	0.61
18	3164443	A	G	18	3164445	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.03335515059884E-4	0.042
18	3164443	A	T	18	3164445	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0421284123217592	0.508
18	3164444	A	C	18	3164446	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99992149812844	0.99
18	3164444	A	G	18	3164446	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.44205712331001E-4	0.036
18	3164444	A	T	18	3164446	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0217521002636899	0.142
18	3164445	T	A	18	3164447	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.27219349862041E-5	0.018
18	3164445	T	C	18	3164447	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.710151079978E-6	0.0
18	3164445	T	G	18	3164447	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.27219349862041E-5	0.0
18	3164446	A	C	18	3164448	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.988862669183068	0.73
18	3164446	A	G	18	3164448	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.75799774008898E-4	0.004
18	3164446	A	T	18	3164448	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00143309737787967	0.252
18	3164447	T	A	18	3164449	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.3435836782292E-4	0.026
18	3164447	T	C	18	3164449	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997205008555191	0.956
18	3164447	T	G	18	3164449	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.1933102821948E-4	0.004
18	3164448	T	A	18	3164450	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.55161969763249E-5	0.024
18	3164448	T	C	18	3164450	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.904077457726832	0.904
18	3164448	T	G	18	3164450	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.58645906776164E-5	0.0
18	3164449	T	A	18	3164451	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.47861758919897E-5	0.028
18	3164449	T	C	18	3164451	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.989108797609576	0.726
18	3164449	T	G	18	3164451	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.47861758919897E-5	0.006
18	3168807	A	C	18	3168809	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.44318322924522E-4	0.038
18	3168807	A	G	18	3168809	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.72872318312541E-4	0.026
18	3168807	A	T	18	3168809	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00116689661169104	0.05
18	3168808	G	A	18	3168810	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.33129801617176E-5	0.036
18	3168808	G	C	18	3168810	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.58928398576996E-5	0.028
18	3168808	G	T	18	3168810	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.58928398576996E-5	0.034
18	3168809	A	C	18	3168811	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0043461568966665	0.128
18	3168809	A	G	18	3168811	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0111001588725607	0.196
18	3168809	A	T	18	3168811	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0403917854316236	0.18
18	3168810	C	A	18	3168812	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999531288191606	0.904
18	3168810	C	G	18	3168812	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999819697966408	0.898
18	3168810	C	T	18	3168812	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999556858035768	0.914
18	3168811	T	A	18	3168813	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.832348199604954	0.592
18	3168811	T	C	18	3168813	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.953004334453184	0.642
18	3168811	T	G	18	3168813	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.716603658029953	0.562
18	3168812	C	A	18	3168814	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0438241839170081	0.404
18	3168812	C	G	18	3168814	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0465377120695906	0.326
18	3168812	C	T	18	3168814	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.3844613680509E-4	0.028
18	3168813	A	C	18	3168815	y	y	splicing	MYOM1(NM_019856:exon10:c.1339+2T>G;NM_003803:exon10:c.1339+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1339+2T>G;ENST00000356443:exon10:c.1339+2T>G;ENST00000261606:exon10:c.1339+2T>G)	.	.	0.999988247793601	0.93
18	3168813	A	G	18	3168815	y	y	splicing	MYOM1(NM_019856:exon10:c.1339+2T>C;NM_003803:exon10:c.1339+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1339+2T>C;ENST00000356443:exon10:c.1339+2T>C;ENST00000261606:exon10:c.1339+2T>C)	.	.	0.999945827492243	0.87
18	3168813	A	T	18	3168815	y	y	splicing	MYOM1(NM_019856:exon10:c.1339+2T>A;NM_003803:exon10:c.1339+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1339+2T>A;ENST00000356443:exon10:c.1339+2T>A;ENST00000261606:exon10:c.1339+2T>A)	.	.	0.999988247793601	0.93
18	3168814	C	A	18	3168816	y	y	splicing	MYOM1(NM_019856:exon10:c.1339+1G>T;NM_003803:exon10:c.1339+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1339+1G>T;ENST00000356443:exon10:c.1339+1G>T;ENST00000261606:exon10:c.1339+1G>T)	.	.	0.999990361384395	0.938
18	3168814	C	G	18	3168816	y	y	splicing	MYOM1(NM_019856:exon10:c.1339+1G>C;NM_003803:exon10:c.1339+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1339+1G>C;ENST00000356443:exon10:c.1339+1G>C;ENST00000261606:exon10:c.1339+1G>C)	.	.	0.999990361384395	0.938
18	3168814	C	T	18	3168816	y	y	splicing	MYOM1(NM_019856:exon10:c.1339+1G>A;NM_003803:exon10:c.1339+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1339+1G>A;ENST00000356443:exon10:c.1339+1G>A;ENST00000261606:exon10:c.1339+1G>A)	.	.	0.999990361384395	0.938
18	3168815	C	A	18	3168817	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon9:c.G1339T:p.G447X;MYOM1:NM_003803:exon9:c.G1339T:p.G447X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon9:c.G1339T:p.G447X;ENSG00000101605:ENST00000400569:exon9:c.G1339T:p.G447X;ENSG00000101605:ENST00000261606:exon9:c.G1339T:p.G447X;	0.999979935567888	0.904
18	3168815	C	G	18	3168817	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.G1339C:p.G447R;MYOM1:NM_003803:exon9:c.G1339C:p.G447R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.G1339C:p.G447R;ENSG00000101605:ENST00000400569:exon9:c.G1339C:p.G447R;ENSG00000101605:ENST00000261606:exon9:c.G1339C:p.G447R;	0.999973318557538	0.948
18	3168815	C	T	18	3168817	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.G1339A:p.G447R;MYOM1:NM_003803:exon9:c.G1339A:p.G447R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.G1339A:p.G447R;ENSG00000101605:ENST00000400569:exon9:c.G1339A:p.G447R;ENSG00000101605:ENST00000261606:exon9:c.G1339A:p.G447R;	0.999973887786149	0.972
18	3168816	G	A	18	3168818	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon9:c.C1338T:p.N446N;MYOM1:NM_003803:exon9:c.C1338T:p.N446N;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.C1338T:p.N446N;ENSG00000101605:ENST00000400569:exon9:c.C1338T:p.N446N;ENSG00000101605:ENST00000261606:exon9:c.C1338T:p.N446N;	6.20457246422966E-4	0.042
18	3168816	G	C	18	3168818	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.C1338G:p.N446K;MYOM1:NM_003803:exon9:c.C1338G:p.N446K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.C1338G:p.N446K;ENSG00000101605:ENST00000400569:exon9:c.C1338G:p.N446K;ENSG00000101605:ENST00000261606:exon9:c.C1338G:p.N446K;	0.0235958674353074	0.148
18	3168816	G	T	18	3168818	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.C1338A:p.N446K;MYOM1:NM_003803:exon9:c.C1338A:p.N446K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.C1338A:p.N446K;ENSG00000101605:ENST00000400569:exon9:c.C1338A:p.N446K;ENSG00000101605:ENST00000261606:exon9:c.C1338A:p.N446K;	0.0079280498741376	0.268
18	3168817	T	A	18	3168819	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.A1337T:p.N446I;MYOM1:NM_003803:exon9:c.A1337T:p.N446I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.A1337T:p.N446I;ENSG00000101605:ENST00000400569:exon9:c.A1337T:p.N446I;ENSG00000101605:ENST00000261606:exon9:c.A1337T:p.N446I;	0.961784592799756	0.568
18	3168817	T	C	18	3168819	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.A1337G:p.N446S;MYOM1:NM_003803:exon9:c.A1337G:p.N446S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.A1337G:p.N446S;ENSG00000101605:ENST00000400569:exon9:c.A1337G:p.N446S;ENSG00000101605:ENST00000261606:exon9:c.A1337G:p.N446S;	0.534183006564374	0.506
18	3168817	T	G	18	3168819	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.A1337C:p.N446T;MYOM1:NM_003803:exon9:c.A1337C:p.N446T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.A1337C:p.N446T;ENSG00000101605:ENST00000400569:exon9:c.A1337C:p.N446T;ENSG00000101605:ENST00000261606:exon9:c.A1337C:p.N446T;	0.851791978632047	0.726
18	3168978	A	C	18	3168980	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.T1176G:p.F392L;MYOM1:NM_003803:exon9:c.T1176G:p.F392L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.T1176G:p.F392L;ENSG00000101605:ENST00000400569:exon9:c.T1176G:p.F392L;ENSG00000101605:ENST00000261606:exon9:c.T1176G:p.F392L;	0.00197985581070383	0.086
18	3168978	A	G	18	3168980	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon9:c.T1176C:p.F392F;MYOM1:NM_003803:exon9:c.T1176C:p.F392F;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.T1176C:p.F392F;ENSG00000101605:ENST00000400569:exon9:c.T1176C:p.F392F;ENSG00000101605:ENST00000261606:exon9:c.T1176C:p.F392F;	0.00110262730686597	0.092
18	3168978	A	T	18	3168980	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.T1176A:p.F392L;MYOM1:NM_003803:exon9:c.T1176A:p.F392L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.T1176A:p.F392L;ENSG00000101605:ENST00000400569:exon9:c.T1176A:p.F392L;ENSG00000101605:ENST00000261606:exon9:c.T1176A:p.F392L;	0.00648595117709095	0.16
18	3168979	A	C	18	3168981	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.T1175G:p.F392C;MYOM1:NM_003803:exon9:c.T1175G:p.F392C;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.T1175G:p.F392C;ENSG00000101605:ENST00000400569:exon9:c.T1175G:p.F392C;ENSG00000101605:ENST00000261606:exon9:c.T1175G:p.F392C;	0.0384046191092387	0.206
18	3168979	A	G	18	3168981	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.T1175C:p.F392S;MYOM1:NM_003803:exon9:c.T1175C:p.F392S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.T1175C:p.F392S;ENSG00000101605:ENST00000400569:exon9:c.T1175C:p.F392S;ENSG00000101605:ENST00000261606:exon9:c.T1175C:p.F392S;	0.00669988137219306	0.076
18	3168979	A	T	18	3168981	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon9:c.T1175A:p.F392Y;MYOM1:NM_003803:exon9:c.T1175A:p.F392Y;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon9:c.T1175A:p.F392Y;ENSG00000101605:ENST00000400569:exon9:c.T1175A:p.F392Y;ENSG00000101605:ENST00000261606:exon9:c.T1175A:p.F392Y;	9.29686405348411E-4	0.018
18	3168980	C	A	18	3168982	y	y	splicing	MYOM1(NM_019856:exon10:c.1175-1G>T;NM_003803:exon10:c.1175-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1175-1G>T;ENST00000356443:exon10:c.1175-1G>T;ENST00000261606:exon10:c.1175-1G>T)	.	.	0.999971209564868	0.948
18	3168980	C	G	18	3168982	y	y	splicing	MYOM1(NM_019856:exon10:c.1175-1G>C;NM_003803:exon10:c.1175-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1175-1G>C;ENST00000356443:exon10:c.1175-1G>C;ENST00000261606:exon10:c.1175-1G>C)	.	.	0.999971209564868	0.948
18	3168980	C	T	18	3168982	y	y	splicing	MYOM1(NM_019856:exon10:c.1175-1G>A;NM_003803:exon10:c.1175-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1175-1G>A;ENST00000356443:exon10:c.1175-1G>A;ENST00000261606:exon10:c.1175-1G>A)	.	.	0.99995586615188	0.95
18	3168981	T	A	18	3168983	y	y	splicing	MYOM1(NM_019856:exon10:c.1175-2A>T;NM_003803:exon10:c.1175-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1175-2A>T;ENST00000356443:exon10:c.1175-2A>T;ENST00000261606:exon10:c.1175-2A>T)	.	.	0.999963671976247	0.952
18	3168981	T	C	18	3168983	y	y	splicing	MYOM1(NM_019856:exon10:c.1175-2A>G;NM_003803:exon10:c.1175-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1175-2A>G;ENST00000356443:exon10:c.1175-2A>G;ENST00000261606:exon10:c.1175-2A>G)	.	.	0.999971317418422	0.916
18	3168981	T	G	18	3168983	y	y	splicing	MYOM1(NM_019856:exon10:c.1175-2A>C;NM_003803:exon10:c.1175-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon10:c.1175-2A>C;ENST00000356443:exon10:c.1175-2A>C;ENST00000261606:exon10:c.1175-2A>C)	.	.	0.999971317418422	0.916
18	3168982	G	A	18	3168984	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00391633743856355	0.096
18	3168982	G	C	18	3168984	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999728434660981	0.868
18	3168982	G	T	18	3168984	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.985149962786753	0.784
18	3168983	G	A	18	3168985	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.92201101151118E-5	0.002
18	3168983	G	C	18	3168985	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.06075174288468E-5	0.002
18	3168983	G	T	18	3168985	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.30837149895546E-5	0.002
18	3168984	G	A	18	3168986	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.11664777630283E-4	0.01
18	3168984	G	C	18	3168986	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999535923562095	0.974
18	3168984	G	T	18	3168986	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0036795941846498	0.048
18	3168985	T	A	18	3168987	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.97769277305195E-5	0.006
18	3168985	T	C	18	3168987	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.77837445772652E-4	0.0
18	3168985	T	G	18	3168987	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.87998016647132E-5	0.0
18	3168986	A	C	18	3168988	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.138071472743658	0.51
18	3168986	A	G	18	3168988	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.45346029274593E-4	0.05
18	3168986	A	T	18	3168988	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.893708305690245	0.63
18	3168987	C	A	18	3168989	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.56996584802013E-4	0.01
18	3168987	C	G	18	3168989	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.56996584802013E-4	0.008
18	3168987	C	T	18	3168989	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.11722734685305E-4	0.144
18	3168988	A	C	18	3168990	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0293168939343427	0.346
18	3168988	A	G	18	3168990	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00129678224524142	0.04
18	3168988	A	T	18	3168990	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99991388004018	0.98
18	3168989	A	C	18	3168991	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00377562310430887	0.198
18	3168989	A	G	18	3168991	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.76593830850515E-4	0.03
18	3168989	A	T	18	3168991	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00247777085566339	0.15
18	3168990	A	C	18	3168992	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0844355911505445	0.362
18	3168990	A	G	18	3168992	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.18889585883384E-4	0.026
18	3168990	A	T	18	3168992	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.11593387189059	0.222
18	3168991	A	C	18	3168993	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00365906732142569	0.144
18	3168991	A	G	18	3168993	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.80926519572621E-5	0.0
18	3168991	A	T	18	3168993	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00371172364220226	0.144
18	3173928	A	C	18	3173930	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.54572729762643E-4	0.0
18	3173928	A	G	18	3173930	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.49222253318775E-5	0.0
18	3173928	A	T	18	3173930	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.80916177506635E-4	0.0
18	3173929	A	C	18	3173931	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.63314535132891E-5	0.004
18	3173929	A	G	18	3173931	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.63314535132891E-5	0.006
18	3173929	A	T	18	3173931	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.21775140396569E-5	0.0
18	3173930	A	C	18	3173932	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.989594665804332	0.762
18	3173930	A	G	18	3173932	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997602078207993	0.876
18	3173930	A	T	18	3173932	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.964760473540105	0.728
18	3173931	C	A	18	3173933	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99998621745145	0.998
18	3173931	C	G	18	3173933	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999989204614116	0.91
18	3173931	C	T	18	3173933	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999983637580191	0.998
18	3173932	T	A	18	3173934	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.989136584477213	0.828
18	3173932	T	C	18	3173934	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.976194830613763	0.874
18	3173932	T	G	18	3173934	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.966227787707414	0.742
18	3173933	T	A	18	3173935	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999433910997551	0.894
18	3173933	T	C	18	3173935	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00418788796592004	0.254
18	3173933	T	G	18	3173935	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999563010588686	0.886
18	3173934	A	C	18	3173936	y	y	splicing	MYOM1(NM_019856:exon9:c.1174+2T>G;NM_003803:exon9:c.1174+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1174+2T>G;ENST00000356443:exon9:c.1174+2T>G;ENST00000261606:exon9:c.1174+2T>G)	.	.	0.999946188727699	0.946
18	3173934	A	G	18	3173936	y	y	splicing	MYOM1(NM_019856:exon9:c.1174+2T>C;NM_003803:exon9:c.1174+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1174+2T>C;ENST00000356443:exon9:c.1174+2T>C;ENST00000261606:exon9:c.1174+2T>C)	.	.	0.97637170637327	0.698
18	3173934	A	T	18	3173936	y	y	splicing	MYOM1(NM_019856:exon9:c.1174+2T>A;NM_003803:exon9:c.1174+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1174+2T>A;ENST00000356443:exon9:c.1174+2T>A;ENST00000261606:exon9:c.1174+2T>A)	.	.	0.999946188727699	0.936
18	3173935	C	A	18	3173937	y	y	splicing	MYOM1(NM_019856:exon9:c.1174+1G>T;NM_003803:exon9:c.1174+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1174+1G>T;ENST00000356443:exon9:c.1174+1G>T;ENST00000261606:exon9:c.1174+1G>T)	.	.	0.99995545544995	0.948
18	3173935	C	G	18	3173937	y	y	splicing	MYOM1(NM_019856:exon9:c.1174+1G>C;NM_003803:exon9:c.1174+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1174+1G>C;ENST00000356443:exon9:c.1174+1G>C;ENST00000261606:exon9:c.1174+1G>C)	.	.	0.99995586615188	0.948
18	3173935	C	T	18	3173937	y	y	splicing	MYOM1(NM_019856:exon9:c.1174+1G>A;NM_003803:exon9:c.1174+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1174+1G>A;ENST00000356443:exon9:c.1174+1G>A;ENST00000261606:exon9:c.1174+1G>A)	.	.	0.99995545544995	0.948
18	3173936	A	C	18	3173938	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.T1174G:p.F392V;MYOM1:NM_003803:exon8:c.T1174G:p.F392V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.T1174G:p.F392V;ENSG00000101605:ENST00000400569:exon8:c.T1174G:p.F392V;ENSG00000101605:ENST00000261606:exon8:c.T1174G:p.F392V;	5.4627479236251E-4	0.042
18	3173936	A	G	18	3173938	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.T1174C:p.F392L;MYOM1:NM_003803:exon8:c.T1174C:p.F392L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.T1174C:p.F392L;ENSG00000101605:ENST00000400569:exon8:c.T1174C:p.F392L;ENSG00000101605:ENST00000261606:exon8:c.T1174C:p.F392L;	0.0220039569507069	0.298
18	3173936	A	T	18	3173938	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.T1174A:p.F392I;MYOM1:NM_003803:exon8:c.T1174A:p.F392I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.T1174A:p.F392I;ENSG00000101605:ENST00000400569:exon8:c.T1174A:p.F392I;ENSG00000101605:ENST00000261606:exon8:c.T1174A:p.F392I;	0.00546767085357366	0.032
18	3173937	G	A	18	3173939	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon8:c.C1173T:p.S391S;MYOM1:NM_003803:exon8:c.C1173T:p.S391S;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.C1173T:p.S391S;ENSG00000101605:ENST00000400569:exon8:c.C1173T:p.S391S;ENSG00000101605:ENST00000261606:exon8:c.C1173T:p.S391S;	8.58239905653535E-4	0.032
18	3173937	G	C	18	3173939	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.C1173G:p.S391R;MYOM1:NM_003803:exon8:c.C1173G:p.S391R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.C1173G:p.S391R;ENSG00000101605:ENST00000400569:exon8:c.C1173G:p.S391R;ENSG00000101605:ENST00000261606:exon8:c.C1173G:p.S391R;	0.118805545129107	0.472
18	3173937	G	T	18	3173939	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.C1173A:p.S391R;MYOM1:NM_003803:exon8:c.C1173A:p.S391R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.C1173A:p.S391R;ENSG00000101605:ENST00000400569:exon8:c.C1173A:p.S391R;ENSG00000101605:ENST00000261606:exon8:c.C1173A:p.S391R;	0.0574078463679455	0.282
18	3173938	C	A	18	3173940	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.G1172T:p.S391I;MYOM1:NM_003803:exon8:c.G1172T:p.S391I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1172T:p.S391I;ENSG00000101605:ENST00000400569:exon8:c.G1172T:p.S391I;ENSG00000101605:ENST00000261606:exon8:c.G1172T:p.S391I;	0.975844650047774	0.718
18	3173938	C	G	18	3173940	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.G1172C:p.S391T;MYOM1:NM_003803:exon8:c.G1172C:p.S391T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1172C:p.S391T;ENSG00000101605:ENST00000400569:exon8:c.G1172C:p.S391T;ENSG00000101605:ENST00000261606:exon8:c.G1172C:p.S391T;	0.881988847575441	0.628
18	3173938	C	T	18	3173940	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.G1172A:p.S391N;MYOM1:NM_003803:exon8:c.G1172A:p.S391N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1172A:p.S391N;ENSG00000101605:ENST00000400569:exon8:c.G1172A:p.S391N;ENSG00000101605:ENST00000261606:exon8:c.G1172A:p.S391N;	0.962079230378674	0.71
18	3173997	C	A	18	3173999	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.G1113T:p.R371S;MYOM1:NM_003803:exon8:c.G1113T:p.R371S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1113T:p.R371S;ENSG00000101605:ENST00000400569:exon8:c.G1113T:p.R371S;ENSG00000101605:ENST00000261606:exon8:c.G1113T:p.R371S;	3.16112549359176E-5	0.038
18	3173997	C	G	18	3173999	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.G1113C:p.R371S;MYOM1:NM_003803:exon8:c.G1113C:p.R371S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1113C:p.R371S;ENSG00000101605:ENST00000400569:exon8:c.G1113C:p.R371S;ENSG00000101605:ENST00000261606:exon8:c.G1113C:p.R371S;	1.48479322828977E-4	0.006
18	3173997	C	T	18	3173999	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon8:c.G1113A:p.R371R;MYOM1:NM_003803:exon8:c.G1113A:p.R371R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1113A:p.R371R;ENSG00000101605:ENST00000400569:exon8:c.G1113A:p.R371R;ENSG00000101605:ENST00000261606:exon8:c.G1113A:p.R371R;	2.5125440801449E-5	0.008
18	3173998	C	A	18	3174000	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.G1112T:p.R371M;MYOM1:NM_003803:exon8:c.G1112T:p.R371M;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1112T:p.R371M;ENSG00000101605:ENST00000400569:exon8:c.G1112T:p.R371M;ENSG00000101605:ENST00000261606:exon8:c.G1112T:p.R371M;	0.999290821467869	0.832
18	3173998	C	G	18	3174000	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.G1112C:p.R371T;MYOM1:NM_003803:exon8:c.G1112C:p.R371T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1112C:p.R371T;ENSG00000101605:ENST00000400569:exon8:c.G1112C:p.R371T;ENSG00000101605:ENST00000261606:exon8:c.G1112C:p.R371T;	0.992742394873349	0.752
18	3173998	C	T	18	3174000	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon8:c.G1112A:p.R371K;MYOM1:NM_003803:exon8:c.G1112A:p.R371K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon8:c.G1112A:p.R371K;ENSG00000101605:ENST00000400569:exon8:c.G1112A:p.R371K;ENSG00000101605:ENST00000261606:exon8:c.G1112A:p.R371K;	0.998882940945299	0.81
18	3173999	C	A	18	3174001	y	y	splicing	MYOM1(NM_019856:exon9:c.1112-1G>T;NM_003803:exon9:c.1112-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1112-1G>T;ENST00000356443:exon9:c.1112-1G>T;ENST00000261606:exon9:c.1112-1G>T)	.	.	0.99995586615188	0.94
18	3173999	C	G	18	3174001	y	y	splicing	MYOM1(NM_019856:exon9:c.1112-1G>C;NM_003803:exon9:c.1112-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1112-1G>C;ENST00000356443:exon9:c.1112-1G>C;ENST00000261606:exon9:c.1112-1G>C)	.	.	0.99995586615188	0.94
18	3173999	C	T	18	3174001	y	y	splicing	MYOM1(NM_019856:exon9:c.1112-1G>A;NM_003803:exon9:c.1112-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1112-1G>A;ENST00000356443:exon9:c.1112-1G>A;ENST00000261606:exon9:c.1112-1G>A)	.	.	0.99995586615188	0.946
18	3174000	T	A	18	3174002	y	y	splicing	MYOM1(NM_019856:exon9:c.1112-2A>T;NM_003803:exon9:c.1112-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1112-2A>T;ENST00000356443:exon9:c.1112-2A>T;ENST00000261606:exon9:c.1112-2A>T)	.	.	0.999946188727699	0.94
18	3174000	T	C	18	3174002	y	y	splicing	MYOM1(NM_019856:exon9:c.1112-2A>G;NM_003803:exon9:c.1112-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1112-2A>G;ENST00000356443:exon9:c.1112-2A>G;ENST00000261606:exon9:c.1112-2A>G)	.	.	0.999964896440643	0.938
18	3174000	T	G	18	3174002	y	y	splicing	MYOM1(NM_019856:exon9:c.1112-2A>C;NM_003803:exon9:c.1112-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon9:c.1112-2A>C;ENST00000356443:exon9:c.1112-2A>C;ENST00000261606:exon9:c.1112-2A>C)	.	.	0.999964896440643	0.938
18	3174001	A	C	18	3174003	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.993718522157817	0.652
18	3174001	A	G	18	3174003	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.82611522615017E-5	0.046
18	3174001	A	T	18	3174003	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0202437874568766	0.232
18	3174002	G	A	18	3174004	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.46484481251265E-5	0.014
18	3174002	G	C	18	3174004	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.30699127311105E-5	0.008
18	3174002	G	T	18	3174004	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.90931387470576E-5	0.008
18	3174003	A	C	18	3174005	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.60472961127878E-4	0.126
18	3174003	A	G	18	3174005	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.38814117100905E-5	0.002
18	3174003	A	T	18	3174005	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.02966067071426E-5	0.052
18	3174004	G	A	18	3174006	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.90715155304747E-5	0.0
18	3174004	G	C	18	3174006	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.96103630693844E-5	0.016
18	3174004	G	T	18	3174006	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.16035292181917E-4	0.012
18	3174005	A	C	18	3174007	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.5371514931082E-5	0.006
18	3174005	A	G	18	3174007	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.60778231244809E-5	0.0
18	3174005	A	T	18	3174007	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.20074589693973E-5	0.004
18	3174006	A	C	18	3174008	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.81121746996628E-5	0.042
18	3174006	A	G	18	3174008	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.34236726263889E-5	0.0
18	3174006	A	T	18	3174008	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.09444988952622E-4	0.036
18	3174007	G	A	18	3174009	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.06332465560924E-5	0.0
18	3174007	G	C	18	3174009	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.60890587365743E-5	0.002
18	3174007	G	T	18	3174009	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.78521810195567E-4	0.004
18	3174008	A	C	18	3174010	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.81106309061855E-4	0.088
18	3174008	A	G	18	3174010	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.09176823158384E-4	0.0
18	3174008	A	T	18	3174010	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00104227431351238	0.15
18	3174009	A	C	18	3174011	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.84672861030679E-5	0.068
18	3174009	A	G	18	3174011	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.14728345675465E-5	0.0
18	3174009	A	T	18	3174011	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.69353583080892E-5	0.046
18	3174010	A	C	18	3174012	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00769738188689295	0.332
18	3174010	A	G	18	3174012	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00594092866605044	0.086
18	3174010	A	T	18	3174012	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0185006015475798	0.384
18	3174110	A	C	18	3174112	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.18751383852967E-4	0.012
18	3174110	A	G	18	3174112	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.24912685300072E-4	0.002
18	3174110	A	T	18	3174112	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.82674500028405E-4	0.004
18	3174111	A	C	18	3174113	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00211263749294312	0.03
18	3174111	A	G	18	3174113	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00141291955479213	0.034
18	3174111	A	T	18	3174113	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00140041901300198	0.03
18	3174112	A	C	18	3174114	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.988854145985867	0.796
18	3174112	A	G	18	3174114	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.786823566336219	0.602
18	3174112	A	T	18	3174114	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.995354751592321	0.67
18	3174113	C	A	18	3174115	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999974268083737	0.994
18	3174113	C	G	18	3174115	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999986284089424	0.99
18	3174113	C	T	18	3174115	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999974268083737	0.998
18	3174114	C	A	18	3174116	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.04820646843384E-4	0.068
18	3174114	C	G	18	3174116	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.66529182899967E-4	0.076
18	3174114	C	T	18	3174116	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.73148810913716E-4	0.06
18	3174115	T	A	18	3174117	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99304680988264	0.912
18	3174115	T	C	18	3174117	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.898270492566441	0.662
18	3174115	T	G	18	3174117	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999445533035373	0.914
18	3174116	A	C	18	3174118	y	y	splicing	MYOM1(NM_019856:exon8:c.1111+2T>G;NM_003803:exon8:c.1111+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1111+2T>G;ENST00000356443:exon8:c.1111+2T>G;ENST00000261606:exon8:c.1111+2T>G)	.	.	0.999990764389106	0.938
18	3174116	A	G	18	3174118	y	y	splicing	MYOM1(NM_019856:exon8:c.1111+2T>C;NM_003803:exon8:c.1111+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1111+2T>C;ENST00000356443:exon8:c.1111+2T>C;ENST00000261606:exon8:c.1111+2T>C)	.	.	0.996592537295792	0.708
18	3174116	A	T	18	3174118	y	y	splicing	MYOM1(NM_019856:exon8:c.1111+2T>A;NM_003803:exon8:c.1111+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1111+2T>A;ENST00000356443:exon8:c.1111+2T>A;ENST00000261606:exon8:c.1111+2T>A)	.	.	0.999990764389106	0.944
18	3174117	C	A	18	3174119	y	y	splicing	MYOM1(NM_019856:exon8:c.1111+1G>T;NM_003803:exon8:c.1111+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1111+1G>T;ENST00000356443:exon8:c.1111+1G>T;ENST00000261606:exon8:c.1111+1G>T)	.	.	0.999986434340258	0.94
18	3174117	C	G	18	3174119	y	y	splicing	MYOM1(NM_019856:exon8:c.1111+1G>C;NM_003803:exon8:c.1111+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1111+1G>C;ENST00000356443:exon8:c.1111+1G>C;ENST00000261606:exon8:c.1111+1G>C)	.	.	0.999986434340258	0.934
18	3174117	C	T	18	3174119	y	y	splicing	MYOM1(NM_019856:exon8:c.1111+1G>A;NM_003803:exon8:c.1111+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1111+1G>A;ENST00000356443:exon8:c.1111+1G>A;ENST00000261606:exon8:c.1111+1G>A)	.	.	0.999986434340258	0.938
18	3174118	T	A	18	3174120	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.A1111T:p.R371W;MYOM1:NM_003803:exon7:c.A1111T:p.R371W;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1111T:p.R371W;ENSG00000101605:ENST00000400569:exon7:c.A1111T:p.R371W;ENSG00000101605:ENST00000261606:exon7:c.A1111T:p.R371W;	0.97960183433038	0.616
18	3174118	T	C	18	3174120	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.A1111G:p.R371G;MYOM1:NM_003803:exon7:c.A1111G:p.R371G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1111G:p.R371G;ENSG00000101605:ENST00000400569:exon7:c.A1111G:p.R371G;ENSG00000101605:ENST00000261606:exon7:c.A1111G:p.R371G;	0.14379451322225	0.174
18	3174118	T	G	18	3174120	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon7:c.A1111C:p.R371R;MYOM1:NM_003803:exon7:c.A1111C:p.R371R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1111C:p.R371R;ENSG00000101605:ENST00000400569:exon7:c.A1111C:p.R371R;ENSG00000101605:ENST00000261606:exon7:c.A1111C:p.R371R;	0.0800172708854561	0.27
18	3174119	T	A	18	3174121	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.A1110T:p.K370N;MYOM1:NM_003803:exon7:c.A1110T:p.K370N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1110T:p.K370N;ENSG00000101605:ENST00000400569:exon7:c.A1110T:p.K370N;ENSG00000101605:ENST00000261606:exon7:c.A1110T:p.K370N;	0.999884074574056	0.98
18	3174119	T	C	18	3174121	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon7:c.A1110G:p.K370K;MYOM1:NM_003803:exon7:c.A1110G:p.K370K;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1110G:p.K370K;ENSG00000101605:ENST00000400569:exon7:c.A1110G:p.K370K;ENSG00000101605:ENST00000261606:exon7:c.A1110G:p.K370K;	0.99169545907876	0.82
18	3174119	T	G	18	3174121	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.A1110C:p.K370N;MYOM1:NM_003803:exon7:c.A1110C:p.K370N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1110C:p.K370N;ENSG00000101605:ENST00000400569:exon7:c.A1110C:p.K370N;ENSG00000101605:ENST00000261606:exon7:c.A1110C:p.K370N;	0.999716120992545	0.948
18	3174120	T	A	18	3174122	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.A1109T:p.K370I;MYOM1:NM_003803:exon7:c.A1109T:p.K370I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1109T:p.K370I;ENSG00000101605:ENST00000400569:exon7:c.A1109T:p.K370I;ENSG00000101605:ENST00000261606:exon7:c.A1109T:p.K370I;	0.999346110154164	0.866
18	3174120	T	C	18	3174122	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.A1109G:p.K370R;MYOM1:NM_003803:exon7:c.A1109G:p.K370R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1109G:p.K370R;ENSG00000101605:ENST00000400569:exon7:c.A1109G:p.K370R;ENSG00000101605:ENST00000261606:exon7:c.A1109G:p.K370R;	0.837481504040399	0.548
18	3174120	T	G	18	3174122	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.A1109C:p.K370T;MYOM1:NM_003803:exon7:c.A1109C:p.K370T;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1109C:p.K370T;ENSG00000101605:ENST00000400569:exon7:c.A1109C:p.K370T;ENSG00000101605:ENST00000261606:exon7:c.A1109C:p.K370T;	0.92571174485038	0.74
18	3174205	A	C	18	3174207	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.T1024G:p.C342G;MYOM1:NM_003803:exon7:c.T1024G:p.C342G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.T1024G:p.C342G;ENSG00000101605:ENST00000400569:exon7:c.T1024G:p.C342G;ENSG00000101605:ENST00000261606:exon7:c.T1024G:p.C342G;	0.507436500398493	0.65
18	3174205	A	G	18	3174207	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.T1024C:p.C342R;MYOM1:NM_003803:exon7:c.T1024C:p.C342R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.T1024C:p.C342R;ENSG00000101605:ENST00000400569:exon7:c.T1024C:p.C342R;ENSG00000101605:ENST00000261606:exon7:c.T1024C:p.C342R;	0.507436500398493	0.644
18	3174205	A	T	18	3174207	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon7:c.T1024A:p.C342S;MYOM1:NM_003803:exon7:c.T1024A:p.C342S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.T1024A:p.C342S;ENSG00000101605:ENST00000400569:exon7:c.T1024A:p.C342S;ENSG00000101605:ENST00000261606:exon7:c.T1024A:p.C342S;	0.507436500398493	0.646
18	3174206	T	A	18	3174208	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon7:c.A1023T:p.G341G;MYOM1:NM_003803:exon7:c.A1023T:p.G341G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1023T:p.G341G;ENSG00000101605:ENST00000400569:exon7:c.A1023T:p.G341G;ENSG00000101605:ENST00000261606:exon7:c.A1023T:p.G341G;	2.14817217988725E-4	0.04
18	3174206	T	C	18	3174208	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon7:c.A1023G:p.G341G;MYOM1:NM_003803:exon7:c.A1023G:p.G341G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1023G:p.G341G;ENSG00000101605:ENST00000400569:exon7:c.A1023G:p.G341G;ENSG00000101605:ENST00000261606:exon7:c.A1023G:p.G341G;	3.65315336375223E-5	0.004
18	3174206	T	G	18	3174208	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon7:c.A1023C:p.G341G;MYOM1:NM_003803:exon7:c.A1023C:p.G341G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon7:c.A1023C:p.G341G;ENSG00000101605:ENST00000400569:exon7:c.A1023C:p.G341G;ENSG00000101605:ENST00000261606:exon7:c.A1023C:p.G341G;	1.92527164258001E-4	0.038
18	3174207	C	A	18	3174209	y	y	splicing	MYOM1(NM_019856:exon8:c.1023-1G>T;NM_003803:exon8:c.1023-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1023-1G>T;ENST00000356443:exon8:c.1023-1G>T;ENST00000261606:exon8:c.1023-1G>T)	.	.	0.999990361384395	0.938
18	3174207	C	G	18	3174209	y	y	splicing	MYOM1(NM_019856:exon8:c.1023-1G>C;NM_003803:exon8:c.1023-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1023-1G>C;ENST00000356443:exon8:c.1023-1G>C;ENST00000261606:exon8:c.1023-1G>C)	.	.	0.999990361384395	0.938
18	3174207	C	T	18	3174209	y	y	splicing	MYOM1(NM_019856:exon8:c.1023-1G>A;NM_003803:exon8:c.1023-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1023-1G>A;ENST00000356443:exon8:c.1023-1G>A;ENST00000261606:exon8:c.1023-1G>A)	.	.	0.999990361384395	0.938
18	3174208	T	A	18	3174210	y	y	splicing	MYOM1(NM_019856:exon8:c.1023-2A>T;NM_003803:exon8:c.1023-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1023-2A>T;ENST00000356443:exon8:c.1023-2A>T;ENST00000261606:exon8:c.1023-2A>T)	.	.	0.999988247793601	0.93
18	3174208	T	C	18	3174210	y	y	splicing	MYOM1(NM_019856:exon8:c.1023-2A>G;NM_003803:exon8:c.1023-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1023-2A>G;ENST00000356443:exon8:c.1023-2A>G;ENST00000261606:exon8:c.1023-2A>G)	.	.	0.999988247793601	0.93
18	3174208	T	G	18	3174210	y	y	splicing	MYOM1(NM_019856:exon8:c.1023-2A>C;NM_003803:exon8:c.1023-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon8:c.1023-2A>C;ENST00000356443:exon8:c.1023-2A>C;ENST00000261606:exon8:c.1023-2A>C)	.	.	0.999988247793601	0.93
18	3174209	G	A	18	3174211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.255912004045578	0.248
18	3174209	G	C	18	3174211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999927068923597	0.956
18	3174209	G	T	18	3174211	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998195046354809	0.768
18	3174210	A	C	18	3174212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.70275340779275E-5	0.0
18	3174210	A	G	18	3174212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.70468743916518E-5	0.0
18	3174210	A	T	18	3174212	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.17897464160465E-4	0.002
18	3174211	A	C	18	3174213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.436043720859968	0.492
18	3174211	A	G	18	3174213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00979288800801134	0.186
18	3174211	A	T	18	3174213	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.312728300143425	0.468
18	3174212	A	C	18	3174214	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.428748381868774	0.526
18	3174212	A	G	18	3174214	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.03155964255759E-4	0.09
18	3174212	A	T	18	3174214	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.63430074632237	0.488
18	3174213	G	A	18	3174215	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.49924970155778E-5	0.004
18	3174213	G	C	18	3174215	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.37071582401406E-4	0.092
18	3174213	G	T	18	3174215	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00137387084443614	0.174
18	3174214	A	C	18	3174216	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.23249062986614E-4	0.222
18	3174214	A	G	18	3174216	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.22978445290379E-5	0.0
18	3174214	A	T	18	3174216	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00723534211608257	0.316
18	3174215	A	C	18	3174217	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0424115009276009	0.386
18	3174215	A	G	18	3174217	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.50115838132608E-4	0.026
18	3174215	A	T	18	3174217	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0453631627845091	0.374
18	3174216	C	A	18	3174218	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.65096955710674E-5	0.0
18	3174216	C	G	18	3174218	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.63354716910922E-6	0.0
18	3174216	C	T	18	3174218	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.60550454946414E-5	0.006
18	3174217	A	C	18	3174219	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00440184557218234	0.224
18	3174217	A	G	18	3174219	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.16044063071343E-4	0.07
18	3174217	A	T	18	3174219	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99959890966242	0.886
18	3174218	G	A	18	3174220	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.79453010175349E-5	0.006
18	3174218	G	C	18	3174220	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.10949770587649E-5	0.002
18	3174218	G	T	18	3174220	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.15342852850414E-5	0.02
18	3176032	T	A	18	3176034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.24450295635078E-5	0.0
18	3176032	T	C	18	3176034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.53200954525579E-5	0.0
18	3176032	T	G	18	3176034	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.4397131142504E-5	0.0
18	3176033	C	A	18	3176035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.28900212548906E-4	0.0
18	3176033	C	G	18	3176035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.15125035961338E-5	0.0
18	3176033	C	T	18	3176035	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.15125035961338E-5	0.0
18	3176034	T	A	18	3176036	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.40097134867609E-5	0.02
18	3176034	T	C	18	3176036	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.02328166556913E-5	0.0
18	3176034	T	G	18	3176036	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.14609605207683E-4	0.056
18	3176035	C	A	18	3176037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999979624722938	0.934
18	3176035	C	G	18	3176037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999963093014091	0.916
18	3176035	C	T	18	3176037	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99995410906219	0.932
18	3176036	T	A	18	3176038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.928426030226272	0.746
18	3176036	T	C	18	3176038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998093501114057	0.802
18	3176036	T	G	18	3176038	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.937717778886545	0.724
18	3176037	T	A	18	3176039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999399230194616	0.892
18	3176037	T	C	18	3176039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.542056106728432	0.48
18	3176037	T	G	18	3176039	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999562046843593	0.89
18	3176038	A	C	18	3176040	y	y	splicing	MYOM1(NM_019856:exon7:c.1022+2T>G;NM_003803:exon7:c.1022+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.1022+2T>G;ENST00000356443:exon7:c.1022+2T>G;ENST00000261606:exon7:c.1022+2T>G)	.	.	0.999964896440643	0.938
18	3176038	A	G	18	3176040	y	y	splicing	MYOM1(NM_019856:exon7:c.1022+2T>C;NM_003803:exon7:c.1022+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.1022+2T>C;ENST00000356443:exon7:c.1022+2T>C;ENST00000261606:exon7:c.1022+2T>C)	.	.	0.999831866180925	0.878
18	3176038	A	T	18	3176040	y	y	splicing	MYOM1(NM_019856:exon7:c.1022+2T>A;NM_003803:exon7:c.1022+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.1022+2T>A;ENST00000356443:exon7:c.1022+2T>A;ENST00000261606:exon7:c.1022+2T>A)	.	.	0.999946188727699	0.946
18	3176039	C	A	18	3176041	y	y	splicing	MYOM1(NM_019856:exon7:c.1022+1G>T;NM_003803:exon7:c.1022+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.1022+1G>T;ENST00000356443:exon7:c.1022+1G>T;ENST00000261606:exon7:c.1022+1G>T)	.	.	0.99995586615188	0.948
18	3176039	C	G	18	3176041	y	y	splicing	MYOM1(NM_019856:exon7:c.1022+1G>C;NM_003803:exon7:c.1022+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.1022+1G>C;ENST00000356443:exon7:c.1022+1G>C;ENST00000261606:exon7:c.1022+1G>C)	.	.	0.99995586615188	0.944
18	3176039	C	T	18	3176041	y	y	splicing	MYOM1(NM_019856:exon7:c.1022+1G>A;NM_003803:exon7:c.1022+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.1022+1G>A;ENST00000356443:exon7:c.1022+1G>A;ENST00000261606:exon7:c.1022+1G>A)	.	.	0.99995586615188	0.948
18	3176040	C	A	18	3176042	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.G1022T:p.G341V;MYOM1:NM_003803:exon6:c.G1022T:p.G341V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.G1022T:p.G341V;ENSG00000101605:ENST00000400569:exon6:c.G1022T:p.G341V;ENSG00000101605:ENST00000261606:exon6:c.G1022T:p.G341V;	0.999383069446878	0.8
18	3176040	C	G	18	3176042	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.G1022C:p.G341A;MYOM1:NM_003803:exon6:c.G1022C:p.G341A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.G1022C:p.G341A;ENSG00000101605:ENST00000400569:exon6:c.G1022C:p.G341A;ENSG00000101605:ENST00000261606:exon6:c.G1022C:p.G341A;	0.999232479909344	0.75
18	3176040	C	T	18	3176042	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.G1022A:p.G341E;MYOM1:NM_003803:exon6:c.G1022A:p.G341E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.G1022A:p.G341E;ENSG00000101605:ENST00000400569:exon6:c.G1022A:p.G341E;ENSG00000101605:ENST00000261606:exon6:c.G1022A:p.G341E;	0.999715015563805	0.942
18	3176041	C	A	18	3176043	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon6:c.G1021T:p.G341X;MYOM1:NM_003803:exon6:c.G1021T:p.G341X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon6:c.G1021T:p.G341X;ENSG00000101605:ENST00000400569:exon6:c.G1021T:p.G341X;ENSG00000101605:ENST00000261606:exon6:c.G1021T:p.G341X;	6.70060230089289E-4	0.202
18	3176041	C	G	18	3176043	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.G1021C:p.G341R;MYOM1:NM_003803:exon6:c.G1021C:p.G341R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.G1021C:p.G341R;ENSG00000101605:ENST00000400569:exon6:c.G1021C:p.G341R;ENSG00000101605:ENST00000261606:exon6:c.G1021C:p.G341R;	4.62639186755194E-5	0.002
18	3176041	C	T	18	3176043	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.G1021A:p.G341R;MYOM1:NM_003803:exon6:c.G1021A:p.G341R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.G1021A:p.G341R;ENSG00000101605:ENST00000400569:exon6:c.G1021A:p.G341R;ENSG00000101605:ENST00000261606:exon6:c.G1021A:p.G341R;	7.57044608814946E-5	0.03
18	3176042	A	C	18	3176044	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.T1020G:p.N340K;MYOM1:NM_003803:exon6:c.T1020G:p.N340K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.T1020G:p.N340K;ENSG00000101605:ENST00000400569:exon6:c.T1020G:p.N340K;ENSG00000101605:ENST00000261606:exon6:c.T1020G:p.N340K;	2.87437272348012E-5	0.016
18	3176042	A	G	18	3176044	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon6:c.T1020C:p.N340N;MYOM1:NM_003803:exon6:c.T1020C:p.N340N;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.T1020C:p.N340N;ENSG00000101605:ENST00000400569:exon6:c.T1020C:p.N340N;ENSG00000101605:ENST00000261606:exon6:c.T1020C:p.N340N;	1.37163326501772E-5	0.0
18	3176042	A	T	18	3176044	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.T1020A:p.N340K;MYOM1:NM_003803:exon6:c.T1020A:p.N340K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.T1020A:p.N340K;ENSG00000101605:ENST00000400569:exon6:c.T1020A:p.N340K;ENSG00000101605:ENST00000261606:exon6:c.T1020A:p.N340K;	1.37926489840583E-5	0.0
18	3176131	A	C	18	3176133	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.T931G:p.Y311D;MYOM1:NM_003803:exon6:c.T931G:p.Y311D;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.T931G:p.Y311D;ENSG00000101605:ENST00000400569:exon6:c.T931G:p.Y311D;ENSG00000101605:ENST00000261606:exon6:c.T931G:p.Y311D;	0.281649897301207	0.458
18	3176131	A	G	18	3176133	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.T931C:p.Y311H;MYOM1:NM_003803:exon6:c.T931C:p.Y311H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.T931C:p.Y311H;ENSG00000101605:ENST00000400569:exon6:c.T931C:p.Y311H;ENSG00000101605:ENST00000261606:exon6:c.T931C:p.Y311H;	0.163739271168077	0.48
18	3176131	A	T	18	3176133	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.T931A:p.Y311N;MYOM1:NM_003803:exon6:c.T931A:p.Y311N;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.T931A:p.Y311N;ENSG00000101605:ENST00000400569:exon6:c.T931A:p.Y311N;ENSG00000101605:ENST00000261606:exon6:c.T931A:p.Y311N;	0.149581536065285	0.476
18	3176132	C	A	18	3176134	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.G930T:p.W310C;MYOM1:NM_003803:exon6:c.G930T:p.W310C;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.G930T:p.W310C;ENSG00000101605:ENST00000400569:exon6:c.G930T:p.W310C;ENSG00000101605:ENST00000261606:exon6:c.G930T:p.W310C;	0.999735075375526	0.998
18	3176132	C	G	18	3176134	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon6:c.G930C:p.W310C;MYOM1:NM_003803:exon6:c.G930C:p.W310C;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon6:c.G930C:p.W310C;ENSG00000101605:ENST00000400569:exon6:c.G930C:p.W310C;ENSG00000101605:ENST00000261606:exon6:c.G930C:p.W310C;	0.999619086220003	0.958
18	3176132	C	T	18	3176134	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon6:c.G930A:p.W310X;MYOM1:NM_003803:exon6:c.G930A:p.W310X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon6:c.G930A:p.W310X;ENSG00000101605:ENST00000400569:exon6:c.G930A:p.W310X;ENSG00000101605:ENST00000261606:exon6:c.G930A:p.W310X;	0.999331110374589	0.936
18	3176133	C	A	18	3176135	y	y	splicing	MYOM1(NM_019856:exon7:c.930-1G>T;NM_003803:exon7:c.930-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.930-1G>T;ENST00000356443:exon7:c.930-1G>T;ENST00000261606:exon7:c.930-1G>T)	.	.	0.999989072007339	0.934
18	3176133	C	G	18	3176135	y	y	splicing	MYOM1(NM_019856:exon7:c.930-1G>C;NM_003803:exon7:c.930-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.930-1G>C;ENST00000356443:exon7:c.930-1G>C;ENST00000261606:exon7:c.930-1G>C)	.	.	0.999989072007339	0.934
18	3176133	C	T	18	3176135	y	y	splicing	MYOM1(NM_019856:exon7:c.930-1G>A;NM_003803:exon7:c.930-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.930-1G>A;ENST00000356443:exon7:c.930-1G>A;ENST00000261606:exon7:c.930-1G>A)	.	.	0.999989072007339	0.934
18	3176134	T	A	18	3176136	y	y	splicing	MYOM1(NM_019856:exon7:c.930-2A>T;NM_003803:exon7:c.930-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.930-2A>T;ENST00000356443:exon7:c.930-2A>T;ENST00000261606:exon7:c.930-2A>T)	.	.	0.99994568797423	0.94
18	3176134	T	C	18	3176136	y	y	splicing	MYOM1(NM_019856:exon7:c.930-2A>G;NM_003803:exon7:c.930-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.930-2A>G;ENST00000356443:exon7:c.930-2A>G;ENST00000261606:exon7:c.930-2A>G)	.	.	0.99994568797423	0.946
18	3176134	T	G	18	3176136	y	y	splicing	MYOM1(NM_019856:exon7:c.930-2A>C;NM_003803:exon7:c.930-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon7:c.930-2A>C;ENST00000356443:exon7:c.930-2A>C;ENST00000261606:exon7:c.930-2A>C)	.	.	0.99994568797423	0.946
18	3176135	A	C	18	3176137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.388752175887638	0.618
18	3176135	A	G	18	3176137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.19034501120332E-5	0.002
18	3176135	A	T	18	3176137	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.20132181284124E-4	0.106
18	3176136	T	A	18	3176138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.49016801643171E-5	0.0
18	3176136	T	C	18	3176138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.02567111775091E-5	0.0
18	3176136	T	G	18	3176138	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.36992615949093E-5	0.0
18	3176137	A	C	18	3176139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.17248658599947	0.514
18	3176137	A	G	18	3176139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.3730860120542E-4	0.018
18	3176137	A	T	18	3176139	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.240265002643297	0.478
18	3176138	A	C	18	3176140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.568703905431488	0.5
18	3176138	A	G	18	3176140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00116360789929728	0.056
18	3176138	A	T	18	3176140	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.571780555541394	0.49
18	3176139	C	A	18	3176141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.80146759018365E-5	0.01
18	3176139	C	G	18	3176141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.18401952129811E-5	0.016
18	3176139	C	T	18	3176141	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.78194651026384E-5	0.058
18	3176140	A	C	18	3176142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0348119421351379	0.29
18	3176140	A	G	18	3176142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.48509751875666E-4	0.01
18	3176140	A	T	18	3176142	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999201712459581	0.974
18	3176141	G	A	18	3176143	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.46187054359747E-5	0.0
18	3176141	G	C	18	3176143	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.83943943757545E-5	0.012
18	3176141	G	T	18	3176143	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.2060770530023E-4	0.002
18	3176142	A	C	18	3176144	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0112602978227952	0.252
18	3176142	A	G	18	3176144	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.90262066672488E-5	0.0
18	3176142	A	T	18	3176144	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.009562271798022	0.244
18	3176143	A	C	18	3176145	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.955100113766117	0.862
18	3176143	A	G	18	3176145	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.88715630618203E-4	0.118
18	3176143	A	T	18	3176145	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0436278835062794	0.434
18	3176144	T	A	18	3176146	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.34284278289794E-5	0.01
18	3176144	T	C	18	3176146	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.02796121983263E-5	0.026
18	3176144	T	G	18	3176146	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.40173270250616E-6	0.0
18	3187470	T	A	18	3187472	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.21222549389079E-5	0.006
18	3187470	T	C	18	3187472	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.59235420463882E-5	0.054
18	3187470	T	G	18	3187472	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.21222549389079E-5	0.012
18	3187471	A	C	18	3187473	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.09118567282239E-5	0.0
18	3187471	A	G	18	3187473	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.19595617583817E-5	0.002
18	3187471	A	T	18	3187473	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.34365835671893E-5	0.0
18	3187472	A	C	18	3187474	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00472186030900564	0.394
18	3187472	A	G	18	3187474	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00585356859659458	0.234
18	3187472	A	T	18	3187474	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0456835918820895	0.34
18	3187473	C	A	18	3187475	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999883298801368	0.962
18	3187473	C	G	18	3187475	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999986062923447	0.994
18	3187473	C	T	18	3187475	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999954175193492	0.976
18	3187474	A	C	18	3187476	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.40859283402915E-4	0.054
18	3187474	A	G	18	3187476	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.89555772258017E-4	0.02
18	3187474	A	T	18	3187476	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.42078837208274E-4	0.082
18	3187475	T	A	18	3187477	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99973598844883	0.924
18	3187475	T	C	18	3187477	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.995979584201057	0.846
18	3187475	T	G	18	3187477	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999881878911381	0.956
18	3187476	A	C	18	3187478	y	y	splicing	MYOM1(NM_019856:exon6:c.929+2T>G;NM_003803:exon6:c.929+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.929+2T>G;ENST00000356443:exon6:c.929+2T>G;ENST00000261606:exon6:c.929+2T>G)	.	.	0.99994568797423	0.92
18	3187476	A	G	18	3187478	y	y	splicing	MYOM1(NM_019856:exon6:c.929+2T>C;NM_003803:exon6:c.929+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.929+2T>C;ENST00000356443:exon6:c.929+2T>C;ENST00000261606:exon6:c.929+2T>C)	.	.	0.982106279493755	0.648
18	3187476	A	T	18	3187478	y	y	splicing	MYOM1(NM_019856:exon6:c.929+2T>A;NM_003803:exon6:c.929+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.929+2T>A;ENST00000356443:exon6:c.929+2T>A;ENST00000261606:exon6:c.929+2T>A)	.	.	0.999978952611685	0.922
18	3187477	C	A	18	3187479	y	y	splicing	MYOM1(NM_019856:exon6:c.929+1G>T;NM_003803:exon6:c.929+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.929+1G>T;ENST00000356443:exon6:c.929+1G>T;ENST00000261606:exon6:c.929+1G>T)	.	.	0.999986675681007	0.93
18	3187477	C	G	18	3187479	y	y	splicing	MYOM1(NM_019856:exon6:c.929+1G>C;NM_003803:exon6:c.929+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.929+1G>C;ENST00000356443:exon6:c.929+1G>C;ENST00000261606:exon6:c.929+1G>C)	.	.	0.999986675681007	0.93
18	3187477	C	T	18	3187479	y	y	splicing	MYOM1(NM_019856:exon6:c.929+1G>A;NM_003803:exon6:c.929+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.929+1G>A;ENST00000356443:exon6:c.929+1G>A;ENST00000261606:exon6:c.929+1G>A)	.	.	0.999986675681007	0.93
18	3187478	C	A	18	3187480	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon5:c.G929T:p.W310L;MYOM1:NM_003803:exon5:c.G929T:p.W310L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.G929T:p.W310L;ENSG00000101605:ENST00000400569:exon5:c.G929T:p.W310L;ENSG00000101605:ENST00000261606:exon5:c.G929T:p.W310L;	0.999966939846511	0.96
18	3187478	C	G	18	3187480	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon5:c.G929C:p.W310S;MYOM1:NM_003803:exon5:c.G929C:p.W310S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.G929C:p.W310S;ENSG00000101605:ENST00000400569:exon5:c.G929C:p.W310S;ENSG00000101605:ENST00000261606:exon5:c.G929C:p.W310S;	0.999987483726692	0.956
18	3187478	C	T	18	3187480	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon5:c.G929A:p.W310X;MYOM1:NM_003803:exon5:c.G929A:p.W310X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon5:c.G929A:p.W310X;ENSG00000101605:ENST00000400569:exon5:c.G929A:p.W310X;ENSG00000101605:ENST00000261606:exon5:c.G929A:p.W310X;	0.999989047806259	0.978
18	3187479	A	C	18	3187481	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon5:c.T928G:p.W310G;MYOM1:NM_003803:exon5:c.T928G:p.W310G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.T928G:p.W310G;ENSG00000101605:ENST00000400569:exon5:c.T928G:p.W310G;ENSG00000101605:ENST00000261606:exon5:c.T928G:p.W310G;	0.955114071111301	0.782
18	3187479	A	G	18	3187481	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon5:c.T928C:p.W310R;MYOM1:NM_003803:exon5:c.T928C:p.W310R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.T928C:p.W310R;ENSG00000101605:ENST00000400569:exon5:c.T928C:p.W310R;ENSG00000101605:ENST00000261606:exon5:c.T928C:p.W310R;	0.915123684762597	0.776
18	3187479	A	T	18	3187481	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon5:c.T928A:p.W310R;MYOM1:NM_003803:exon5:c.T928A:p.W310R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.T928A:p.W310R;ENSG00000101605:ENST00000400569:exon5:c.T928A:p.W310R;ENSG00000101605:ENST00000261606:exon5:c.T928A:p.W310R;	0.495622241895756	0.526
18	3187480	C	A	18	3187482	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon5:c.G927T:p.T309T;MYOM1:NM_003803:exon5:c.G927T:p.T309T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.G927T:p.T309T;ENSG00000101605:ENST00000400569:exon5:c.G927T:p.T309T;ENSG00000101605:ENST00000261606:exon5:c.G927T:p.T309T;	1.34936173754978E-5	0.004
18	3187480	C	G	18	3187482	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon5:c.G927C:p.T309T;MYOM1:NM_003803:exon5:c.G927C:p.T309T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.G927C:p.T309T;ENSG00000101605:ENST00000400569:exon5:c.G927C:p.T309T;ENSG00000101605:ENST00000261606:exon5:c.G927C:p.T309T;	1.40858362280629E-5	0.002
18	3187480	C	T	18	3187482	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon5:c.G927A:p.T309T;MYOM1:NM_003803:exon5:c.G927A:p.T309T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.G927A:p.T309T;ENSG00000101605:ENST00000400569:exon5:c.G927A:p.T309T;ENSG00000101605:ENST00000261606:exon5:c.G927A:p.T309T;	1.250243698046E-5	0.0
18	3187634	A	C	18	3187636	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon5:c.T773G:p.L258X;MYOM1:NM_003803:exon5:c.T773G:p.L258X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon5:c.T773G:p.L258X;ENSG00000101605:ENST00000400569:exon5:c.T773G:p.L258X;ENSG00000101605:ENST00000261606:exon5:c.T773G:p.L258X;	0.0122035836654526	0.272
18	3187634	A	G	18	3187636	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon5:c.T773C:p.L258S;MYOM1:NM_003803:exon5:c.T773C:p.L258S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.T773C:p.L258S;ENSG00000101605:ENST00000400569:exon5:c.T773C:p.L258S;ENSG00000101605:ENST00000261606:exon5:c.T773C:p.L258S;	0.00235680097471354	0.07
18	3187634	A	T	18	3187636	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon5:c.T773A:p.L258X;MYOM1:NM_003803:exon5:c.T773A:p.L258X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon5:c.T773A:p.L258X;ENSG00000101605:ENST00000400569:exon5:c.T773A:p.L258X;ENSG00000101605:ENST00000261606:exon5:c.T773A:p.L258X;	0.0111787274392139	0.244
18	3187635	A	C	18	3187637	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon5:c.T772G:p.L258V;MYOM1:NM_003803:exon5:c.T772G:p.L258V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.T772G:p.L258V;ENSG00000101605:ENST00000400569:exon5:c.T772G:p.L258V;ENSG00000101605:ENST00000261606:exon5:c.T772G:p.L258V;	4.92838913868791E-5	0.072
18	3187635	A	G	18	3187637	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon5:c.T772C:p.L258L;MYOM1:NM_003803:exon5:c.T772C:p.L258L;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.T772C:p.L258L;ENSG00000101605:ENST00000400569:exon5:c.T772C:p.L258L;ENSG00000101605:ENST00000261606:exon5:c.T772C:p.L258L;	6.68193124777529E-5	0.006
18	3187635	A	T	18	3187637	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon5:c.T772A:p.L258I;MYOM1:NM_003803:exon5:c.T772A:p.L258I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon5:c.T772A:p.L258I;ENSG00000101605:ENST00000400569:exon5:c.T772A:p.L258I;ENSG00000101605:ENST00000261606:exon5:c.T772A:p.L258I;	1.00806723606022E-5	0.0
18	3187636	C	A	18	3187638	y	y	splicing	MYOM1(NM_019856:exon6:c.772-1G>T;NM_003803:exon6:c.772-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.772-1G>T;ENST00000356443:exon6:c.772-1G>T;ENST00000261606:exon6:c.772-1G>T)	.	.	0.999977614472875	0.798
18	3187636	C	G	18	3187638	y	y	splicing	MYOM1(NM_019856:exon6:c.772-1G>C;NM_003803:exon6:c.772-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.772-1G>C;ENST00000356443:exon6:c.772-1G>C;ENST00000261606:exon6:c.772-1G>C)	.	.	0.999977614472875	0.758
18	3187636	C	T	18	3187638	y	y	splicing	MYOM1(NM_019856:exon6:c.772-1G>A;NM_003803:exon6:c.772-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.772-1G>A;ENST00000356443:exon6:c.772-1G>A;ENST00000261606:exon6:c.772-1G>A)	.	.	0.999958003653399	0.816
18	3187637	T	A	18	3187639	y	y	splicing	MYOM1(NM_019856:exon6:c.772-2A>T;NM_003803:exon6:c.772-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.772-2A>T;ENST00000356443:exon6:c.772-2A>T;ENST00000261606:exon6:c.772-2A>T)	.	.	0.999972155025474	0.87
18	3187637	T	C	18	3187639	y	y	splicing	MYOM1(NM_019856:exon6:c.772-2A>G;NM_003803:exon6:c.772-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.772-2A>G;ENST00000356443:exon6:c.772-2A>G;ENST00000261606:exon6:c.772-2A>G)	.	.	0.999969255906173	0.846
18	3187637	T	G	18	3187639	y	y	splicing	MYOM1(NM_019856:exon6:c.772-2A>C;NM_003803:exon6:c.772-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon6:c.772-2A>C;ENST00000356443:exon6:c.772-2A>C;ENST00000261606:exon6:c.772-2A>C)	.	.	0.999969255906173	0.846
18	3187638	G	A	18	3187640	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0114247345608574	0.19
18	3187638	G	C	18	3187640	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999655846109774	0.934
18	3187638	G	T	18	3187640	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.576637565071185	0.514
18	3187639	A	C	18	3187641	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.99266508354623E-4	0.008
18	3187639	A	G	18	3187641	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.05494847519042E-5	0.008
18	3187639	A	T	18	3187641	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.69134443813458E-5	0.002
18	3187640	A	C	18	3187642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.935978562290492	0.566
18	3187640	A	G	18	3187642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0218645664820262	0.094
18	3187640	A	T	18	3187642	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.849280002103002	0.56
18	3187641	A	C	18	3187643	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.21070098606178	0.328
18	3187641	A	G	18	3187643	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.35709276400367E-4	0.01
18	3187641	A	T	18	3187643	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.34520444481108	0.328
18	3187642	A	C	18	3187644	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.49984841668747E-4	0.024
18	3187642	A	G	18	3187644	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.4413175445225E-5	0.0
18	3187642	A	T	18	3187644	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00669244859497607	0.1
18	3187643	A	C	18	3187645	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.72472850839262E-4	0.046
18	3187643	A	G	18	3187645	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.49763092911054E-6	0.002
18	3187643	A	T	18	3187645	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00571799067832569	0.046
18	3187644	A	C	18	3187646	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0254529921193988	0.254
18	3187644	A	G	18	3187646	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.77179080045093E-5	0.002
18	3187644	A	T	18	3187646	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0174338346684382	0.22
18	3187645	C	A	18	3187647	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.48052969579136E-5	0.016
18	3187645	C	G	18	3187647	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.09740216807318E-6	0.0
18	3187645	C	T	18	3187647	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.12935027568292E-5	0.004
18	3187646	A	C	18	3187648	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.120032508626588	0.424
18	3187646	A	G	18	3187648	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	4.45061762450706E-4	0.066
18	3187646	A	T	18	3187648	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999910010032532	0.934
18	3187647	A	C	18	3187649	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00414135375029423	0.402
18	3187647	A	G	18	3187649	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	8.81465844059127E-5	0.006
18	3187647	A	T	18	3187649	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00774836867633949	0.402
18	3188738	T	A	18	3188740	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	5.9751993561897E-5	0.002
18	3188738	T	C	18	3188740	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.81617021570238E-5	0.0
18	3188738	T	G	18	3188740	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.81617021570238E-5	0.0
18	3188739	T	A	18	3188741	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.13772829512752E-4	0.08
18	3188739	T	C	18	3188741	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.43881802060675E-5	0.004
18	3188739	T	G	18	3188741	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	9.95050248830736E-6	0.006
18	3188740	T	A	18	3188742	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.39828207392018E-4	0.04
18	3188740	T	C	18	3188742	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.07828005537893E-4	0.08
18	3188740	T	G	18	3188742	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.01518159305982E-4	0.054
18	3188741	C	A	18	3188743	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999965394109469	0.946
18	3188741	C	G	18	3188743	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999975173392611	0.968
18	3188741	C	T	18	3188743	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999934294504878	0.948
18	3188742	T	A	18	3188744	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.997744521927821	0.848
18	3188742	T	C	18	3188744	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.99952002860096	0.9
18	3188742	T	G	18	3188744	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.998385639089125	0.84
18	3188743	T	A	18	3188745	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999423208244165	0.918
18	3188743	T	C	18	3188745	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.973649081303896	0.594
18	3188743	T	G	18	3188745	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999423208244165	0.912
18	3188744	A	C	18	3188746	y	y	splicing	MYOM1(NM_019856:exon5:c.771+2T>G;NM_003803:exon5:c.771+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.771+2T>G;ENST00000356443:exon5:c.771+2T>G;ENST00000261606:exon5:c.771+2T>G)	.	.	0.999964896440643	0.96
18	3188744	A	G	18	3188746	y	y	splicing	MYOM1(NM_019856:exon5:c.771+2T>C;NM_003803:exon5:c.771+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.771+2T>C;ENST00000356443:exon5:c.771+2T>C;ENST00000261606:exon5:c.771+2T>C)	.	.	0.99982390098473	0.898
18	3188744	A	T	18	3188746	y	y	splicing	MYOM1(NM_019856:exon5:c.771+2T>A;NM_003803:exon5:c.771+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.771+2T>A;ENST00000356443:exon5:c.771+2T>A;ENST00000261606:exon5:c.771+2T>A)	.	.	0.999946188727699	0.948
18	3188745	C	A	18	3188747	y	y	splicing	MYOM1(NM_019856:exon5:c.771+1G>T;NM_003803:exon5:c.771+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.771+1G>T;ENST00000356443:exon5:c.771+1G>T;ENST00000261606:exon5:c.771+1G>T)	.	.	0.999949496871441	0.954
18	3188745	C	G	18	3188747	y	y	splicing	MYOM1(NM_019856:exon5:c.771+1G>C;NM_003803:exon5:c.771+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.771+1G>C;ENST00000356443:exon5:c.771+1G>C;ENST00000261606:exon5:c.771+1G>C)	.	.	0.999949496871441	0.958
18	3188745	C	T	18	3188747	y	y	splicing	MYOM1(NM_019856:exon5:c.771+1G>A;NM_003803:exon5:c.771+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.771+1G>A;ENST00000356443:exon5:c.771+1G>A;ENST00000261606:exon5:c.771+1G>A)	.	.	0.999949496871441	0.954
18	3188746	T	A	18	3188748	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon4:c.A771T:p.T257T;MYOM1:NM_003803:exon4:c.A771T:p.T257T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.A771T:p.T257T;ENSG00000101605:ENST00000400569:exon4:c.A771T:p.T257T;ENSG00000101605:ENST00000261606:exon4:c.A771T:p.T257T;	0.00871731694275243	0.18
18	3188746	T	C	18	3188748	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon4:c.A771G:p.T257T;MYOM1:NM_003803:exon4:c.A771G:p.T257T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.A771G:p.T257T;ENSG00000101605:ENST00000400569:exon4:c.A771G:p.T257T;ENSG00000101605:ENST00000261606:exon4:c.A771G:p.T257T;	2.71325019425778E-4	0.044
18	3188746	T	G	18	3188748	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon4:c.A771C:p.T257T;MYOM1:NM_003803:exon4:c.A771C:p.T257T;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.A771C:p.T257T;ENSG00000101605:ENST00000400569:exon4:c.A771C:p.T257T;ENSG00000101605:ENST00000261606:exon4:c.A771C:p.T257T;	1.57909531136783E-4	0.062
18	3188747	G	A	18	3188749	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon4:c.C770T:p.T257I;MYOM1:NM_003803:exon4:c.C770T:p.T257I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.C770T:p.T257I;ENSG00000101605:ENST00000400569:exon4:c.C770T:p.T257I;ENSG00000101605:ENST00000261606:exon4:c.C770T:p.T257I;	0.958076731992135	0.612
18	3188747	G	C	18	3188749	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon4:c.C770G:p.T257R;MYOM1:NM_003803:exon4:c.C770G:p.T257R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.C770G:p.T257R;ENSG00000101605:ENST00000400569:exon4:c.C770G:p.T257R;ENSG00000101605:ENST00000261606:exon4:c.C770G:p.T257R;	0.0134785684791256	0.114
18	3188747	G	T	18	3188749	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon4:c.C770A:p.T257K;MYOM1:NM_003803:exon4:c.C770A:p.T257K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.C770A:p.T257K;ENSG00000101605:ENST00000400569:exon4:c.C770A:p.T257K;ENSG00000101605:ENST00000261606:exon4:c.C770A:p.T257K;	0.00379416677623225	0.132
18	3188748	T	A	18	3188750	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon4:c.A769T:p.T257S;MYOM1:NM_003803:exon4:c.A769T:p.T257S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.A769T:p.T257S;ENSG00000101605:ENST00000400569:exon4:c.A769T:p.T257S;ENSG00000101605:ENST00000261606:exon4:c.A769T:p.T257S;	0.996734905826806	0.688
18	3188748	T	C	18	3188750	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon4:c.A769G:p.T257A;MYOM1:NM_003803:exon4:c.A769G:p.T257A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.A769G:p.T257A;ENSG00000101605:ENST00000400569:exon4:c.A769G:p.T257A;ENSG00000101605:ENST00000261606:exon4:c.A769G:p.T257A;	0.886883483349145	0.492
18	3188748	T	G	18	3188750	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon4:c.A769C:p.T257P;MYOM1:NM_003803:exon4:c.A769C:p.T257P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.A769C:p.T257P;ENSG00000101605:ENST00000400569:exon4:c.A769C:p.T257P;ENSG00000101605:ENST00000261606:exon4:c.A769C:p.T257P;	0.77078770198204	0.656
18	3189084	G	A	18	3189086	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon4:c.C433T:p.Q145X;MYOM1:NM_003803:exon4:c.C433T:p.Q145X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon4:c.C433T:p.Q145X;ENSG00000101605:ENST00000400569:exon4:c.C433T:p.Q145X;ENSG00000101605:ENST00000261606:exon4:c.C433T:p.Q145X;	0.983551483280257	0.85
18	3189084	G	C	18	3189086	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon4:c.C433G:p.Q145E;MYOM1:NM_003803:exon4:c.C433G:p.Q145E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.C433G:p.Q145E;ENSG00000101605:ENST00000400569:exon4:c.C433G:p.Q145E;ENSG00000101605:ENST00000261606:exon4:c.C433G:p.Q145E;	0.00400189827577002	0.08
18	3189084	G	T	18	3189086	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon4:c.C433A:p.Q145K;MYOM1:NM_003803:exon4:c.C433A:p.Q145K;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.C433A:p.Q145K;ENSG00000101605:ENST00000400569:exon4:c.C433A:p.Q145K;ENSG00000101605:ENST00000261606:exon4:c.C433A:p.Q145K;	0.0436553708172954	0.102
18	3189085	A	C	18	3189087	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon4:c.T432G:p.R144R;MYOM1:NM_003803:exon4:c.T432G:p.R144R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.T432G:p.R144R;ENSG00000101605:ENST00000400569:exon4:c.T432G:p.R144R;ENSG00000101605:ENST00000261606:exon4:c.T432G:p.R144R;	6.62551363261912E-5	0.062
18	3189085	A	G	18	3189087	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon4:c.T432C:p.R144R;MYOM1:NM_003803:exon4:c.T432C:p.R144R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.T432C:p.R144R;ENSG00000101605:ENST00000400569:exon4:c.T432C:p.R144R;ENSG00000101605:ENST00000261606:exon4:c.T432C:p.R144R;	7.85718582989884E-5	0.01
18	3189085	A	T	18	3189087	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon4:c.T432A:p.R144R;MYOM1:NM_003803:exon4:c.T432A:p.R144R;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon4:c.T432A:p.R144R;ENSG00000101605:ENST00000400569:exon4:c.T432A:p.R144R;ENSG00000101605:ENST00000261606:exon4:c.T432A:p.R144R;	1.6145473046765E-5	0.0
18	3189086	C	A	18	3189088	y	y	splicing	MYOM1(NM_019856:exon5:c.432-1G>T;NM_003803:exon5:c.432-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.432-1G>T;ENST00000356443:exon5:c.432-1G>T;ENST00000261606:exon5:c.432-1G>T)	.	.	0.999967358293902	0.946
18	3189086	C	G	18	3189088	y	y	splicing	MYOM1(NM_019856:exon5:c.432-1G>C;NM_003803:exon5:c.432-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.432-1G>C;ENST00000356443:exon5:c.432-1G>C;ENST00000261606:exon5:c.432-1G>C)	.	.	0.99996621969971	0.93
18	3189086	C	T	18	3189088	y	y	splicing	MYOM1(NM_019856:exon5:c.432-1G>A;NM_003803:exon5:c.432-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.432-1G>A;ENST00000356443:exon5:c.432-1G>A;ENST00000261606:exon5:c.432-1G>A)	.	.	0.999967358293902	0.948
18	3189087	T	A	18	3189089	y	y	splicing	MYOM1(NM_019856:exon5:c.432-2A>T;NM_003803:exon5:c.432-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.432-2A>T;ENST00000356443:exon5:c.432-2A>T;ENST00000261606:exon5:c.432-2A>T)	.	.	0.999971317418422	0.914
18	3189087	T	C	18	3189089	y	y	splicing	MYOM1(NM_019856:exon5:c.432-2A>G;NM_003803:exon5:c.432-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.432-2A>G;ENST00000356443:exon5:c.432-2A>G;ENST00000261606:exon5:c.432-2A>G)	.	.	0.999971317418422	0.912
18	3189087	T	G	18	3189089	y	y	splicing	MYOM1(NM_019856:exon5:c.432-2A>C;NM_003803:exon5:c.432-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon5:c.432-2A>C;ENST00000356443:exon5:c.432-2A>C;ENST00000261606:exon5:c.432-2A>C)	.	.	0.999971317418422	0.912
18	3189088	A	C	18	3189090	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.984997003427353	0.696
18	3189088	A	G	18	3189090	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.90894771822535E-5	0.016
18	3189088	A	T	18	3189090	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.217548393343328	0.372
18	3189089	A	C	18	3189091	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.7466270811857E-4	0.04
18	3189089	A	G	18	3189091	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.35624379566011E-5	0.03
18	3189089	A	T	18	3189091	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.7249526558565E-4	0.004
18	3189090	A	C	18	3189092	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.951017126032342	0.658
18	3189090	A	G	18	3189092	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.0562573730864913	0.204
18	3189090	A	T	18	3189092	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.986480805166149	0.72
18	3189091	A	C	18	3189093	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.900769922565135	0.51
18	3189091	A	G	18	3189093	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.00302762626367751	0.138
18	3189091	A	T	18	3189093	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.888559407682808	0.502
18	3189092	C	A	18	3189094	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.84341040321481E-5	0.004
18	3189092	C	G	18	3189094	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.84341040321481E-5	0.002
18	3189092	C	T	18	3189094	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.61513209741562E-5	0.002
18	3189093	A	C	18	3189095	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.316578401850337	0.484
18	3189093	A	G	18	3189095	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	2.59242176062953E-4	0.022
18	3189093	A	T	18	3189095	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999914766482131	0.99
18	3189094	C	A	18	3189096	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.75191658525942E-5	0.016
18	3189094	C	G	18	3189096	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.4913280797992E-5	0.008
18	3189094	C	T	18	3189096	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	3.52108132986418E-5	0.02
18	3189095	A	C	18	3189097	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.019088473235856	0.278
18	3189095	A	G	18	3189097	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.006520785060762	0.104
18	3189095	A	T	18	3189097	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.999981250842623	0.956
18	3189096	A	C	18	3189098	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.48007190860518	0.574
18	3189096	A	G	18	3189098	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	7.08941240243823E-4	0.124
18	3189096	A	T	18	3189098	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	0.239470039129574	0.542
18	3189097	C	A	18	3189099	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.65833119006028E-5	0.002
18	3189097	C	G	18	3189099	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	1.62971926835447E-5	0.0
18	3189097	C	T	18	3189099	y	y	intronic	MYOM1	.	.	intronic	ENSG00000101605	.	.	6.65689649919658E-5	0.002
18	3193808	A	C	18	3193810	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	5.91848111353002E-5	0.002
18	3193808	A	G	18	3193810	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.05191810124354E-4	0.006
18	3193808	A	T	18	3193810	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	8.55453923326756E-5	0.002
18	3193809	C	A	18	3193811	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	9.28648117745486E-5	0.002
18	3193809	C	G	18	3193811	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.46706626756971E-4	0.004
18	3193809	C	T	18	3193811	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.145427515918E-4	0.002
18	3193810	A	C	18	3193812	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.981806672472622	0.746
18	3193810	A	G	18	3193812	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.994101048899499	0.738
18	3193810	A	T	18	3193812	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.997007143639623	0.856
18	3193811	C	A	18	3193813	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999942580278505	0.764
18	3193811	C	G	18	3193813	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999966009171266	0.972
18	3193811	C	T	18	3193813	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999971802197665	0.888
18	3193812	T	A	18	3193814	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.913912331664943	0.444
18	3193812	T	C	18	3193814	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.303009109944677	0.39
18	3193812	T	G	18	3193814	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.22075791767536	0.314
18	3193813	C	A	18	3193815	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.0990679202782798	0.318
18	3193813	C	G	18	3193815	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.155131069966571	0.436
18	3193813	C	T	18	3193815	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.33337819734694E-5	0.0
18	3193814	A	C	18	3193816	y	y	splicing	MYOM1(NM_019856:exon4:c.431+2T>G;NM_003803:exon4:c.431+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.431+2T>G;ENST00000356443:exon4:c.431+2T>G;ENST00000261606:exon4:c.431+2T>G)	.	.	0.999988247793601	0.93
18	3193814	A	G	18	3193816	y	y	splicing	MYOM1(NM_019856:exon4:c.431+2T>C;NM_003803:exon4:c.431+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.431+2T>C;ENST00000356443:exon4:c.431+2T>C;ENST00000261606:exon4:c.431+2T>C)	.	.	0.999929727175276	0.868
18	3193814	A	T	18	3193816	y	y	splicing	MYOM1(NM_019856:exon4:c.431+2T>A;NM_003803:exon4:c.431+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.431+2T>A;ENST00000356443:exon4:c.431+2T>A;ENST00000261606:exon4:c.431+2T>A)	.	.	0.999988247793601	0.93
18	3193815	C	A	18	3193817	y	y	splicing	MYOM1(NM_019856:exon4:c.431+1G>T;NM_003803:exon4:c.431+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.431+1G>T;ENST00000356443:exon4:c.431+1G>T;ENST00000261606:exon4:c.431+1G>T)	.	.	0.999990361384395	0.938
18	3193815	C	G	18	3193817	y	y	splicing	MYOM1(NM_019856:exon4:c.431+1G>C;NM_003803:exon4:c.431+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.431+1G>C;ENST00000356443:exon4:c.431+1G>C;ENST00000261606:exon4:c.431+1G>C)	.	.	0.999990361384395	0.938
18	3193815	C	T	18	3193817	y	y	splicing	MYOM1(NM_019856:exon4:c.431+1G>A;NM_003803:exon4:c.431+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.431+1G>A;ENST00000356443:exon4:c.431+1G>A;ENST00000261606:exon4:c.431+1G>A)	.	.	0.999990361384395	0.938
18	3193816	C	A	18	3193818	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.G431T:p.R144L;MYOM1:NM_003803:exon3:c.G431T:p.R144L;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.G431T:p.R144L;ENSG00000101605:ENST00000400569:exon3:c.G431T:p.R144L;ENSG00000101605:ENST00000261606:exon3:c.G431T:p.R144L;	0.999952579274707	0.92
18	3193816	C	G	18	3193818	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.G431C:p.R144P;MYOM1:NM_003803:exon3:c.G431C:p.R144P;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.G431C:p.R144P;ENSG00000101605:ENST00000400569:exon3:c.G431C:p.R144P;ENSG00000101605:ENST00000261606:exon3:c.G431C:p.R144P;	0.999985608379626	0.988
18	3193816	C	T	18	3193818	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.G431A:p.R144H;MYOM1:NM_003803:exon3:c.G431A:p.R144H;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.G431A:p.R144H;ENSG00000101605:ENST00000400569:exon3:c.G431A:p.R144H;ENSG00000101605:ENST00000261606:exon3:c.G431A:p.R144H;	0.999959425778299	0.95
18	3193817	G	A	18	3193819	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.C430T:p.R144C;MYOM1:NM_003803:exon3:c.C430T:p.R144C;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.C430T:p.R144C;ENSG00000101605:ENST00000400569:exon3:c.C430T:p.R144C;ENSG00000101605:ENST00000261606:exon3:c.C430T:p.R144C;	0.522907442993886	0.478
18	3193817	G	C	18	3193819	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.C430G:p.R144G;MYOM1:NM_003803:exon3:c.C430G:p.R144G;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.C430G:p.R144G;ENSG00000101605:ENST00000400569:exon3:c.C430G:p.R144G;ENSG00000101605:ENST00000261606:exon3:c.C430G:p.R144G;	0.448399659348632	0.436
18	3193817	G	T	18	3193819	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.C430A:p.R144S;MYOM1:NM_003803:exon3:c.C430A:p.R144S;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.C430A:p.R144S;ENSG00000101605:ENST00000400569:exon3:c.C430A:p.R144S;ENSG00000101605:ENST00000261606:exon3:c.C430A:p.R144S;	0.00298432595016405	0.118
18	3193818	T	A	18	3193820	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon3:c.A429T:p.G143G;MYOM1:NM_003803:exon3:c.A429T:p.G143G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.A429T:p.G143G;ENSG00000101605:ENST00000400569:exon3:c.A429T:p.G143G;ENSG00000101605:ENST00000261606:exon3:c.A429T:p.G143G;	0.00158951377697679	0.172
18	3193818	T	C	18	3193820	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon3:c.A429G:p.G143G;MYOM1:NM_003803:exon3:c.A429G:p.G143G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.A429G:p.G143G;ENSG00000101605:ENST00000400569:exon3:c.A429G:p.G143G;ENSG00000101605:ENST00000261606:exon3:c.A429G:p.G143G;	7.09946535444069E-4	0.008
18	3193818	T	G	18	3193820	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon3:c.A429C:p.G143G;MYOM1:NM_003803:exon3:c.A429C:p.G143G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.A429C:p.G143G;ENSG00000101605:ENST00000400569:exon3:c.A429C:p.G143G;ENSG00000101605:ENST00000261606:exon3:c.A429C:p.G143G;	1.32882840586232E-4	0.016
18	3193955	G	A	18	3193957	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.C292T:p.L98F;MYOM1:NM_003803:exon3:c.C292T:p.L98F;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.C292T:p.L98F;ENSG00000101605:ENST00000400569:exon3:c.C292T:p.L98F;ENSG00000101605:ENST00000261606:exon3:c.C292T:p.L98F;	0.00693577656916381	0.092
18	3193955	G	C	18	3193957	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.C292G:p.L98V;MYOM1:NM_003803:exon3:c.C292G:p.L98V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.C292G:p.L98V;ENSG00000101605:ENST00000400569:exon3:c.C292G:p.L98V;ENSG00000101605:ENST00000261606:exon3:c.C292G:p.L98V;	0.0134489146401984	0.124
18	3193955	G	T	18	3193957	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon3:c.C292A:p.L98I;MYOM1:NM_003803:exon3:c.C292A:p.L98I;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.C292A:p.L98I;ENSG00000101605:ENST00000400569:exon3:c.C292A:p.L98I;ENSG00000101605:ENST00000261606:exon3:c.C292A:p.L98I;	0.029622002835618	0.114
18	3193956	T	A	18	3193958	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon3:c.A291T:p.G97G;MYOM1:NM_003803:exon3:c.A291T:p.G97G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.A291T:p.G97G;ENSG00000101605:ENST00000400569:exon3:c.A291T:p.G97G;ENSG00000101605:ENST00000261606:exon3:c.A291T:p.G97G;	5.81850969271184E-4	0.084
18	3193956	T	C	18	3193958	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon3:c.A291G:p.G97G;MYOM1:NM_003803:exon3:c.A291G:p.G97G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.A291G:p.G97G;ENSG00000101605:ENST00000400569:exon3:c.A291G:p.G97G;ENSG00000101605:ENST00000261606:exon3:c.A291G:p.G97G;	6.01871927984832E-5	0.002
18	3193956	T	G	18	3193958	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon3:c.A291C:p.G97G;MYOM1:NM_003803:exon3:c.A291C:p.G97G;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon3:c.A291C:p.G97G;ENSG00000101605:ENST00000400569:exon3:c.A291C:p.G97G;ENSG00000101605:ENST00000261606:exon3:c.A291C:p.G97G;	0.00451391381826585	0.122
18	3193957	C	A	18	3193959	y	y	splicing	MYOM1(NM_019856:exon4:c.291-1G>T;NM_003803:exon4:c.291-1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.291-1G>T;ENST00000356443:exon4:c.291-1G>T;ENST00000261606:exon4:c.291-1G>T)	.	.	0.999977162774916	0.892
18	3193957	C	G	18	3193959	y	y	splicing	MYOM1(NM_019856:exon4:c.291-1G>C;NM_003803:exon4:c.291-1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.291-1G>C;ENST00000356443:exon4:c.291-1G>C;ENST00000261606:exon4:c.291-1G>C)	.	.	0.999974785031454	0.884
18	3193957	C	T	18	3193959	y	y	splicing	MYOM1(NM_019856:exon4:c.291-1G>A;NM_003803:exon4:c.291-1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.291-1G>A;ENST00000356443:exon4:c.291-1G>A;ENST00000261606:exon4:c.291-1G>A)	.	.	0.999977162774916	0.854
18	3193958	T	A	18	3193960	y	y	splicing	MYOM1(NM_019856:exon4:c.291-2A>T;NM_003803:exon4:c.291-2A>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.291-2A>T;ENST00000356443:exon4:c.291-2A>T;ENST00000261606:exon4:c.291-2A>T)	.	.	0.999972155025474	0.888
18	3193958	T	C	18	3193960	y	y	splicing	MYOM1(NM_019856:exon4:c.291-2A>G;NM_003803:exon4:c.291-2A>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.291-2A>G;ENST00000356443:exon4:c.291-2A>G;ENST00000261606:exon4:c.291-2A>G)	.	.	0.999969255906173	0.868
18	3193958	T	G	18	3193960	y	y	splicing	MYOM1(NM_019856:exon4:c.291-2A>C;NM_003803:exon4:c.291-2A>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon4:c.291-2A>C;ENST00000356443:exon4:c.291-2A>C;ENST00000261606:exon4:c.291-2A>C)	.	.	0.999969255906173	0.876
18	3193959	G	A	18	3193961	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00207655709706367	0.152
18	3193959	G	C	18	3193961	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999354364238154	0.824
18	3193959	G	T	18	3193961	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999116008889482	0.858
18	3193960	A	C	18	3193962	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	4.92659856148095E-4	0.058
18	3193960	A	G	18	3193962	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00174367388624131	0.082
18	3193960	A	T	18	3193962	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.94088322230389E-4	0.026
18	3193961	A	C	18	3193963	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.99962804585608	0.694
18	3193961	A	G	18	3193963	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.319408149413427	0.226
18	3193961	A	T	18	3193963	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.98682906350523	0.666
18	3193962	A	C	18	3193964	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999935488784153	0.964
18	3193962	A	G	18	3193964	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00142324202379124	0.084
18	3193962	A	T	18	3193964	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.989681746617299	0.758
18	3193963	T	A	18	3193965	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	1.91157645574935E-5	0.0
18	3193963	T	C	18	3193965	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	1.81752537681479E-5	0.0
18	3193963	T	G	18	3193965	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.14443255838104E-5	0.0
18	3193964	A	C	18	3193966	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.702953532500001	0.544
18	3193964	A	G	18	3193966	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	1.68029446218277E-4	0.018
18	3193964	A	T	18	3193966	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.959461093915486	0.72
18	3193965	A	C	18	3193967	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.0112032006357921	0.432
18	3193965	A	G	18	3193967	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	4.49493833355771E-4	0.096
18	3193965	A	T	18	3193967	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.0743841450922044	0.474
18	3193966	A	C	18	3193968	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.988820506896831	0.694
18	3193966	A	G	18	3193968	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.106597442331183	0.124
18	3193966	A	T	18	3193968	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.990111684910602	0.712
18	3193967	C	A	18	3193969	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	4.46183120952448E-5	0.046
18	3193967	C	G	18	3193969	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	4.15629175833855E-5	0.014
18	3193967	C	T	18	3193969	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.27197709335001E-4	0.124
18	3193968	C	A	18	3193970	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.24276335397826E-5	0.002
18	3193968	C	G	18	3193970	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.22681982810392E-5	0.0
18	3193968	C	T	18	3193970	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.991956910321936	0.944
18	3214924	C	A	18	3214926	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.15125035961338E-5	0.0
18	3214924	C	G	18	3214926	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	1.96323034491673E-5	0.0
18	3214924	C	T	18	3214926	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.15125035961338E-5	0.032
18	3214925	G	A	18	3214927	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.46325578937018E-4	0.086
18	3214925	G	C	18	3214927	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	7.20123741273848E-5	0.03
18	3214925	G	T	18	3214927	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.6291964291088E-5	0.004
18	3214926	A	C	18	3214928	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	9.09439760438755E-4	0.172
18	3214926	A	G	18	3214928	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.0110963578273205	0.232
18	3214926	A	T	18	3214928	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.0128984872107142	0.192
18	3214927	C	A	18	3214929	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999889222915908	0.966
18	3214927	C	G	18	3214929	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999993320979416	0.978
18	3214927	C	T	18	3214929	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999986047283065	0.998
18	3214928	A	C	18	3214930	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.04824735667863E-5	0.0
18	3214928	A	G	18	3214930	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.37990397511338E-5	0.0
18	3214928	A	T	18	3214930	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	9.82000376655044E-5	0.054
18	3214929	T	A	18	3214931	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999905268332281	0.942
18	3214929	T	C	18	3214931	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.996191224476678	0.754
18	3214929	T	G	18	3214931	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999900454610279	0.946
18	3214930	A	C	18	3214932	y	y	splicing	MYOM1(NM_019856:exon3:c.290+2T>G;NM_003803:exon3:c.290+2T>G)	.	.	splicing	ENSG00000101605(ENST00000400569:exon3:c.290+2T>G;ENST00000356443:exon3:c.290+2T>G;ENST00000261606:exon3:c.290+2T>G)	.	.	0.999962958601995	0.832
18	3214930	A	G	18	3214932	y	y	splicing	MYOM1(NM_019856:exon3:c.290+2T>C;NM_003803:exon3:c.290+2T>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon3:c.290+2T>C;ENST00000356443:exon3:c.290+2T>C;ENST00000261606:exon3:c.290+2T>C)	.	.	0.906508138262818	0.586
18	3214930	A	T	18	3214932	y	y	splicing	MYOM1(NM_019856:exon3:c.290+2T>A;NM_003803:exon3:c.290+2T>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon3:c.290+2T>A;ENST00000356443:exon3:c.290+2T>A;ENST00000261606:exon3:c.290+2T>A)	.	.	0.999969255906173	0.844
18	3214931	C	A	18	3214933	y	y	splicing	MYOM1(NM_019856:exon3:c.290+1G>T;NM_003803:exon3:c.290+1G>T)	.	.	splicing	ENSG00000101605(ENST00000400569:exon3:c.290+1G>T;ENST00000356443:exon3:c.290+1G>T;ENST00000261606:exon3:c.290+1G>T)	.	.	0.999962716029817	0.862
18	3214931	C	G	18	3214933	y	y	splicing	MYOM1(NM_019856:exon3:c.290+1G>C;NM_003803:exon3:c.290+1G>C)	.	.	splicing	ENSG00000101605(ENST00000400569:exon3:c.290+1G>C;ENST00000356443:exon3:c.290+1G>C;ENST00000261606:exon3:c.290+1G>C)	.	.	0.999954401362567	0.85
18	3214931	C	T	18	3214933	y	y	splicing	MYOM1(NM_019856:exon3:c.290+1G>A;NM_003803:exon3:c.290+1G>A)	.	.	splicing	ENSG00000101605(ENST00000400569:exon3:c.290+1G>A;ENST00000356443:exon3:c.290+1G>A;ENST00000261606:exon3:c.290+1G>A)	.	.	0.999962153403958	0.864
18	3214932	C	A	18	3214934	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon2:c.G290T:p.G97V;MYOM1:NM_003803:exon2:c.G290T:p.G97V;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon2:c.G290T:p.G97V;ENSG00000101605:ENST00000400569:exon2:c.G290T:p.G97V;ENSG00000101605:ENST00000261606:exon2:c.G290T:p.G97V;	0.999595159049286	0.922
18	3214932	C	G	18	3214934	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon2:c.G290C:p.G97A;MYOM1:NM_003803:exon2:c.G290C:p.G97A;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon2:c.G290C:p.G97A;ENSG00000101605:ENST00000400569:exon2:c.G290C:p.G97A;ENSG00000101605:ENST00000261606:exon2:c.G290C:p.G97A;	0.999885924378824	0.83
18	3214932	C	T	18	3214934	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon2:c.G290A:p.G97E;MYOM1:NM_003803:exon2:c.G290A:p.G97E;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon2:c.G290A:p.G97E;ENSG00000101605:ENST00000400569:exon2:c.G290A:p.G97E;ENSG00000101605:ENST00000261606:exon2:c.G290A:p.G97E;	0.999932629347758	0.986
18	3214933	C	A	18	3214935	y	y	exonic	MYOM1	stopgain SNV	MYOM1:NM_019856:exon2:c.G289T:p.G97X;MYOM1:NM_003803:exon2:c.G289T:p.G97X;	exonic	ENSG00000101605	stopgain SNV	ENSG00000101605:ENST00000356443:exon2:c.G289T:p.G97X;ENSG00000101605:ENST00000400569:exon2:c.G289T:p.G97X;ENSG00000101605:ENST00000261606:exon2:c.G289T:p.G97X;	0.215298699414628	0.55
18	3214933	C	G	18	3214935	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon2:c.G289C:p.G97R;MYOM1:NM_003803:exon2:c.G289C:p.G97R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon2:c.G289C:p.G97R;ENSG00000101605:ENST00000400569:exon2:c.G289C:p.G97R;ENSG00000101605:ENST00000261606:exon2:c.G289C:p.G97R;	9.51824310785605E-4	0.092
18	3214933	C	T	18	3214935	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon2:c.G289A:p.G97R;MYOM1:NM_003803:exon2:c.G289A:p.G97R;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon2:c.G289A:p.G97R;ENSG00000101605:ENST00000400569:exon2:c.G289A:p.G97R;ENSG00000101605:ENST00000261606:exon2:c.G289A:p.G97R;	5.70523137813342E-4	0.13
18	3214934	A	C	18	3214936	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon2:c.T288G:p.H96Q;MYOM1:NM_003803:exon2:c.T288G:p.H96Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon2:c.T288G:p.H96Q;ENSG00000101605:ENST00000400569:exon2:c.T288G:p.H96Q;ENSG00000101605:ENST00000261606:exon2:c.T288G:p.H96Q;	1.54592131169357E-4	0.02
18	3214934	A	G	18	3214936	y	y	exonic	MYOM1	synonymous SNV	MYOM1:NM_019856:exon2:c.T288C:p.H96H;MYOM1:NM_003803:exon2:c.T288C:p.H96H;	exonic	ENSG00000101605	synonymous SNV	ENSG00000101605:ENST00000356443:exon2:c.T288C:p.H96H;ENSG00000101605:ENST00000400569:exon2:c.T288C:p.H96H;ENSG00000101605:ENST00000261606:exon2:c.T288C:p.H96H;	2.15512858754037E-5	0.004
18	3214934	A	T	18	3214936	y	y	exonic	MYOM1	nonsynonymous SNV	MYOM1:NM_019856:exon2:c.T288A:p.H96Q;MYOM1:NM_003803:exon2:c.T288A:p.H96Q;	exonic	ENSG00000101605	nonsynonymous SNV	ENSG00000101605:ENST00000356443:exon2:c.T288A:p.H96Q;ENSG00000101605:ENST00000400569:exon2:c.T288A:p.H96Q;ENSG00000101605:ENST00000261606:exon2:c.T288A:p.H96Q;	5.25294765719521E-5	0.0
18	3215248	A	C	18	3215250	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	4.04019280241321E-4	0.01
18	3215248	A	G	18	3215250	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.00111197157452589	0.056
18	3215248	A	T	18	3215250	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	5.21460711062486E-4	0.018
18	3215249	C	A	18	3215251	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.0887755578932406	0.35
18	3215249	C	G	18	3215251	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.00547663609081134	0.232
18	3215249	C	T	18	3215251	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	1.60503575994008E-4	0.144
18	3215250	C	A	18	3215252	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999965722254998	0.884
18	3215250	C	G	18	3215252	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999962153403958	0.878
18	3215250	C	T	18	3215252	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999965722254998	0.864
18	3215251	T	A	18	3215253	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999972155025474	0.85
18	3215251	T	C	18	3215253	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999969255906173	0.862
18	3215251	T	G	18	3215253	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999969255906173	0.86
18	3215252	G	A	18	3215254	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00141386526163763	0.012
18	3215252	G	C	18	3215254	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.998399072043325	0.742
18	3215252	G	T	18	3215254	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.550541023282445	0.426
18	3215253	A	C	18	3215255	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	1.58230489346902E-5	0.0
18	3215253	A	G	18	3215255	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.86391995138238E-5	0.002
18	3215253	A	T	18	3215255	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	5.43179408098042E-5	0.002
18	3215254	A	C	18	3215256	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00384298208185184	0.106
18	3215254	A	G	18	3215256	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	5.42528454463799E-5	0.004
18	3215254	A	T	18	3215256	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00695109458162432	0.094
18	3215255	G	A	18	3215257	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	1.54424137335433E-5	0.0
18	3215255	G	C	18	3215257	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	5.56505025467004E-4	0.058
18	3215255	G	T	18	3215257	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.49746862388976E-4	0.118
18	3215256	G	A	18	3215258	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	7.63892819322817E-5	0.006
18	3215256	G	C	18	3215258	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.58783130540749E-4	0.048
18	3215256	G	T	18	3215258	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00126692639929247	0.062
18	3215257	A	C	18	3215259	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.67063172558061E-4	0.038
18	3215257	A	G	18	3215259	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	1.53102813100315E-4	0.0
18	3215257	A	T	18	3215259	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00109846482586255	0.05
18	3215258	A	C	18	3215260	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	7.8141628472759E-5	0.022
18	3215258	A	G	18	3215260	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	4.69735691508429E-5	0.0
18	3215258	A	T	18	3215260	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	9.55667004003153E-5	0.014
18	3215259	A	C	18	3215261	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	8.68455028406489E-5	0.038
18	3215259	A	G	18	3215261	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.61429840399436E-5	0.0
18	3215259	A	T	18	3215261	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	4.43498892290204E-4	0.052
18	3215260	A	C	18	3215262	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	2.58829849228152E-4	0.078
18	3215260	A	G	18	3215262	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	9.36851515639026E-5	0.008
18	3215260	A	T	18	3215262	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.98774597832672E-4	0.106
18	3215261	C	A	18	3215263	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	5.82602052289826E-5	0.0
18	3215261	C	G	18	3215263	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	5.05604122120787E-5	0.002
18	3215261	C	T	18	3215263	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	3.76690595411937E-5	0.002
18	3219793	A	C	18	3219795	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.0015915061370918	0.022
18	3219793	A	G	18	3219795	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.0015915061370918	0.02
18	3219793	A	T	18	3219795	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.00220285109689569	0.072
18	3219794	C	A	18	3219796	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.960668988587981	0.736
18	3219794	C	G	18	3219796	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.923645538223766	0.71
18	3219794	C	T	18	3219796	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.972710711965371	0.816
18	3219795	A	C	18	3219797	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.228612556806897	0.316
18	3219795	A	G	18	3219797	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.482184867205743	0.548
18	3219795	A	T	18	3219797	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.270776848695002	0.454
18	3219796	C	A	18	3219798	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999363210098965	0.742
18	3219796	C	G	18	3219798	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.99925610131643	0.824
18	3219796	C	T	18	3219798	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.999883542750071	0.832
18	3219797	T	A	18	3219799	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.99753765949489	0.828
18	3219797	T	C	18	3219799	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.998968711647829	0.892
18	3219797	T	G	18	3219799	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.987158766284823	0.842
18	3219798	T	A	18	3219800	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.981338700599083	0.8
18	3219798	T	C	18	3219800	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.0519033554540981	0.222
18	3219798	T	G	18	3219800	y	y	intronic	MYOM1	.	.	ncRNA_intronic	ENSG00000265399	.	.	0.994392871861152	0.914
18	3219799	A	C	18	3219801	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999988247793601	0.928
18	3219799	A	G	18	3219801	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.99231226973403	0.686
18	3219799	A	T	18	3219801	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999988247793601	0.928
18	3219800	C	A	18	3219802	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999990361384395	0.936
18	3219800	C	G	18	3219802	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999990361384395	0.936
18	3219800	C	T	18	3219802	y	y	splicing	MYOM1	.	.	splicing	ENSG00000101605	.	.	0.999990361384395	0.936
18	3219801	C	A	18	3219803	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.990462321199427	0.894
18	3219801	C	G	18	3219803	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.994579336089956	0.758
18	3219801	C	T	18	3219803	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.962174733554297	0.748
18	3219802	A	C	18	3219804	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	1.35621713243645E-4	0.02
18	3219802	A	G	18	3219804	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	2.12879408272558E-4	0.022
18	3219802	A	T	18	3219804	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	2.14711243143621E-4	0.122
18	3219803	G	A	18	3219805	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.643704344454301	0.318
18	3219803	G	C	18	3219805	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.0687756880948424	0.12
18	3219803	G	T	18	3219805	y	y	UTR5	MYOM1	.	.	ncRNA_UTR5	ENSG00000101605	.	.	0.0841348129415149	0.202
18	3247583	C	A	18	3247585	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	7.01315188657279E-5	0.0
18	3247583	C	G	18	3247585	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	7.01315188657279E-5	0.0
18	3247583	C	T	18	3247585	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	7.01315188657279E-5	0.0
18	3247584	A	C	18	3247586	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.10714322530515E-4	0.0
18	3247584	A	G	18	3247586	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.10714322530515E-4	0.0
18	3247584	A	T	18	3247586	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	7.75684941161229E-5	0.0
18	3247585	G	A	18	3247587	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.40053381145528E-4	0.002
18	3247585	G	C	18	3247587	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	8.55472960422104E-5	0.0
18	3247585	G	T	18	3247587	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	8.55472960422104E-5	0.0
18	3247586	G	A	18	3247588	n	y	UTR5	MYL12A	.	.	splicing	ENSG00000101608	.	.	1.46004206284423E-5	0.0
18	3247586	G	C	18	3247588	n	y	UTR5	MYL12A	.	.	splicing	ENSG00000101608	.	.	1.46004206284423E-5	0.0
18	3247586	G	T	18	3247588	n	y	UTR5	MYL12A	.	.	splicing	ENSG00000101608	.	.	1.46004206284423E-5	0.0
18	3247587	T	A	18	3247589	n	y	UTR5	MYL12A	.	.	splicing	ENSG00000101608	.	.	6.90866578596279E-5	0.0
18	3247587	T	C	18	3247589	n	y	UTR5	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.80109675654916E-5	0.0
18	3247587	T	G	18	3247589	n	y	UTR5	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.80109675654916E-5	0.0
18	3247588	A	C	18	3247590	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	7.62500938860321E-5	0.0
18	3247588	A	G	18	3247590	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	7.62500938860321E-5	0.0
18	3247588	A	T	18	3247590	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	4.19523722086209E-5	0.0
18	3247589	C	A	18	3247591	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.64677722929178E-5	0.01
18	3247589	C	G	18	3247591	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.64677722929178E-5	0.006
18	3247589	C	T	18	3247591	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.64677722929178E-5	0.0
18	3247590	A	C	18	3247592	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.69439264402225E-5	0.0
18	3247590	A	G	18	3247592	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.69439264402225E-5	0.0
18	3247590	A	T	18	3247592	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.69439264402225E-5	0.0
18	3247591	A	C	18	3247593	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.39826558468951E-5	0.008
18	3247591	A	G	18	3247593	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.39826558468951E-5	0.008
18	3247591	A	T	18	3247593	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.10853470952722E-4	0.01
18	3247592	A	C	18	3247594	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.33785764589345E-5	0.0
18	3247592	A	G	18	3247594	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	2.85878141671679E-5	0.0
18	3247592	A	T	18	3247594	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.33785764589345E-5	0.0
18	3247593	A	C	18	3247595	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.12307223864952E-4	0.002
18	3247593	A	G	18	3247595	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.12307223864952E-4	0.02
18	3247593	A	T	18	3247595	n	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	2.18821402882975E-4	0.002
18	3247905	C	A	18	3247907	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.79019652214518E-5	0.01
18	3247905	C	G	18	3247907	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	2.88624370090149E-4	0.046
18	3247905	C	T	18	3247907	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.00783112225305E-4	0.03
18	3247906	G	A	18	3247908	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.82498811263357E-4	0.078
18	3247906	G	C	18	3247908	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	7.41627052689709E-5	0.004
18	3247906	G	T	18	3247908	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.27659015614462E-4	0.01
18	3247907	G	A	18	3247909	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.983076281157739	0.696
18	3247907	G	C	18	3247909	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.997958381830454	0.696
18	3247907	G	T	18	3247909	y	y	UTR5	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.971937036523964	0.714
18	3247908	G	A	18	3247910	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608	.	.	0.99996555635344	0.866
18	3247908	G	C	18	3247910	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608	.	.	0.99996555635344	0.82
18	3247908	G	T	18	3247910	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608	.	.	0.99996555635344	0.848
18	3247909	T	A	18	3247911	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608	.	.	0.999969255906173	0.848
18	3247909	T	C	18	3247911	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608	.	.	0.999022562221617	0.768
18	3247909	T	G	18	3247911	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608	.	.	0.999962958601995	0.826
18	3247910	G	A	18	3247912	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.88894148694548E-4	0.004
18	3247910	G	C	18	3247912	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.903825732458717	0.644
18	3247910	G	T	18	3247912	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.981155130189819	0.654
18	3247911	A	C	18	3247913	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.724243441956174	0.578
18	3247911	A	G	18	3247913	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.970611878787952	0.77
18	3247911	A	T	18	3247913	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.983290821529853	0.724
18	3247912	G	A	18	3247914	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.999924014319491	0.96
18	3247912	G	C	18	3247914	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.999971460329933	0.904
18	3247912	G	T	18	3247914	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.999848252651597	0.918
18	3247913	T	A	18	3247915	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.181976582987649	0.236
18	3247913	T	C	18	3247915	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0449812053467364	0.184
18	3247913	T	G	18	3247915	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0044877066529239	0.152
18	3247914	G	A	18	3247916	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.76372590699343E-4	0.004
18	3247914	G	C	18	3247916	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.923032978426E-4	0.002
18	3247914	G	T	18	3247916	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.3861706550772E-5	0.002
18	3247915	G	A	18	3247917	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.95835245373049E-5	0.0
18	3247915	G	C	18	3247917	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.95835245373049E-5	0.0
18	3247915	G	T	18	3247917	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.95835245373049E-5	0.0
18	3249347	C	A	18	3249349	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.49702646665041E-5	0.004
18	3249347	C	G	18	3249349	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.08802802279601E-5	0.004
18	3249347	C	T	18	3249349	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.49702646665041E-5	0.004
18	3249348	T	A	18	3249350	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.35428655471156E-5	0.002
18	3249348	T	C	18	3249350	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.49702646665041E-5	0.006
18	3249348	T	G	18	3249350	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.49702646665041E-5	0.006
18	3249349	C	A	18	3249351	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.23990001900786E-4	0.0
18	3249349	C	G	18	3249351	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.86359644168464E-5	0.0
18	3249349	C	T	18	3249351	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.23990001900786E-4	0.0
18	3249350	T	A	18	3249352	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.0271673026669E-5	0.0
18	3249350	T	C	18	3249352	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.0271673026669E-5	0.0
18	3249350	T	G	18	3249352	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.0271673026669E-5	0.0
18	3249351	C	A	18	3249353	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.16581026635165E-5	0.008
18	3249351	C	G	18	3249353	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.16581026635165E-5	0.008
18	3249351	C	T	18	3249353	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.16581026635165E-5	0.006
18	3249352	G	A	18	3249354	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.08802802279601E-5	0.004
18	3249352	G	C	18	3249354	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.78864525412067E-5	0.0
18	3249352	G	T	18	3249354	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.08802802279601E-5	0.0
18	3249353	T	A	18	3249355	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.53861234471585E-5	0.004
18	3249353	T	C	18	3249355	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.90729588515235E-5	0.004
18	3249353	T	G	18	3249355	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.90729588515235E-5	0.004
18	3249354	T	A	18	3249356	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.49702646665041E-5	0.008
18	3249354	T	C	18	3249356	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.49702646665041E-5	0.006
18	3249354	T	G	18	3249356	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.49702646665041E-5	0.006
18	3249355	A	C	18	3249357	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.36340088948343E-5	0.068
18	3249355	A	G	18	3249357	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.36340088948343E-5	0.022
18	3249355	A	T	18	3249357	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.7586829694842E-5	0.0
18	3249356	C	A	18	3249358	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.552751562108E-5	0.006
18	3249356	C	G	18	3249358	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.552751562108E-5	0.004
18	3249356	C	T	18	3249358	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.90028566392549E-5	0.012
18	3249357	A	C	18	3249359	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	1.77575230623332E-4	0.016
18	3249357	A	G	18	3249359	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	1.64400779785233E-4	0.016
18	3249357	A	T	18	3249359	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	2.65332719750715E-4	0.016
18	3249358	G	A	18	3249360	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	1.23990001900786E-4	0.0
18	3249358	G	C	18	3249360	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	2.86359644168464E-5	0.0
18	3249358	G	T	18	3249360	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	5.96543823885678E-5	0.002
18	3249359	C	A	18	3249361	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.24453633365032E-5	0.0
18	3249359	C	G	18	3249361	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	7.5364181533214E-5	0.0
18	3249359	C	T	18	3249361	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.24453633365032E-5	0.0
18	3249360	C	A	18	3249362	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.68306564525381E-4	0.0
18	3249360	C	G	18	3249362	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.35115461238441E-4	0.0
18	3249360	C	T	18	3249362	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	4.54864143880111E-4	0.0
18	3249439	A	C	18	3249441	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.25666866588399E-5	0.0
18	3249439	A	G	18	3249441	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.25666866588399E-5	0.0
18	3249439	A	T	18	3249441	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.25666866588399E-5	0.0
18	3249440	A	C	18	3249442	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	2.98542968807727E-4	0.05
18	3249440	A	G	18	3249442	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	2.12196402286868E-4	0.036
18	3249440	A	T	18	3249442	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.01769565671828E-4	0.032
18	3249441	G	A	18	3249443	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.20279124519223E-5	0.0
18	3249441	G	C	18	3249443	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	8.29444940048665E-5	0.01
18	3249441	G	T	18	3249443	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.20279124519223E-5	0.002
18	3249442	G	A	18	3249444	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	7.18924664478357E-5	0.0
18	3249442	G	C	18	3249444	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	6.51383879749987E-5	0.0
18	3249442	G	T	18	3249444	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	6.51383879749987E-5	0.0
18	3249443	T	A	18	3249445	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	7.48532405555758E-5	0.0
18	3249443	T	C	18	3249445	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.60947442822834E-5	0.0
18	3249443	T	G	18	3249445	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.60947442822834E-5	0.0
18	3249444	T	A	18	3249446	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.9469183429777E-5	0.0
18	3249444	T	C	18	3249446	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.9469183429777E-5	0.0
18	3249444	T	G	18	3249446	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.9469183429777E-5	0.0
18	3249445	A	C	18	3249447	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.05089878083976E-4	0.01
18	3249445	A	G	18	3249447	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.05089878083976E-4	0.01
18	3249445	A	T	18	3249447	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	7.85892088628007E-5	0.008
18	3249446	T	A	18	3249448	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.60947442822834E-5	0.0
18	3249446	T	C	18	3249448	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.60947442822834E-5	0.0
18	3249446	T	G	18	3249448	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.60947442822834E-5	0.0
18	3249447	G	A	18	3249449	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	7.52881759733747E-5	0.0
18	3249447	G	C	18	3249449	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	7.52881759733747E-5	0.002
18	3249447	G	T	18	3249449	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	7.52881759733747E-5	0.0
18	3249448	C	A	18	3249450	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.29444940048665E-5	0.008
18	3249448	C	G	18	3249450	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.99056141236358E-5	0.004
18	3249448	C	T	18	3249450	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.29444940048665E-5	0.006
18	3249449	T	A	18	3249451	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.68941991925928E-5	0.01
18	3249449	T	C	18	3249451	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.68941991925928E-5	0.01
18	3249449	T	G	18	3249451	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.68941991925928E-5	0.01
18	3249548	T	A	18	3249550	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.29657536541866E-5	0.002
18	3249548	T	C	18	3249550	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.29657536541866E-5	0.002
18	3249548	T	G	18	3249550	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.29657536541866E-5	0.002
18	3249549	C	A	18	3249551	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.29174331464365E-5	0.01
18	3249549	C	G	18	3249551	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.29174331464365E-5	0.008
18	3249549	C	T	18	3249551	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.29174331464365E-5	0.044
18	3249550	T	A	18	3249552	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.68140984436469E-5	0.0
18	3249550	T	C	18	3249552	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.26007143607885E-5	0.01
18	3249550	T	G	18	3249552	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.26007143607885E-5	0.016
18	3249551	A	C	18	3249553	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.08802802279601E-5	0.002
18	3249551	A	G	18	3249553	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.08802802279601E-5	0.002
18	3249551	A	T	18	3249553	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.49702646665041E-5	0.004
18	3249552	C	A	18	3249554	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.08692400722682E-5	0.0
18	3249552	C	G	18	3249554	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.08692400722682E-5	0.0
18	3249552	C	T	18	3249554	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.08692400722682E-5	0.0
18	3249553	T	A	18	3249555	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.00152067379830319	0.008
18	3249553	T	C	18	3249555	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.00102211620560074	0.008
18	3249553	T	G	18	3249555	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.00102211620560074	0.008
18	3249554	T	A	18	3249556	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.24975915077222E-5	0.0
18	3249554	T	C	18	3249556	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.1020973109669E-5	0.0
18	3249554	T	G	18	3249556	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.1020973109669E-5	0.0
18	3249555	T	A	18	3249557	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.07710370919652E-5	0.014
18	3249555	T	C	18	3249557	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.07710370919652E-5	0.014
18	3249555	T	G	18	3249557	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.07710370919652E-5	0.014
18	3249556	C	A	18	3249558	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.552751562108E-5	0.004
18	3249556	C	G	18	3249558	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.552751562108E-5	0.004
18	3249556	C	T	18	3249558	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.552751562108E-5	0.006
18	3249557	C	A	18	3249559	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.82827935381688E-5	0.012
18	3249557	C	G	18	3249559	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.78205327723092E-5	0.006
18	3249557	C	T	18	3249559	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.82827935381688E-5	0.002
18	3249558	A	C	18	3249560	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	1.6591932203085E-4	0.112
18	3249558	A	G	18	3249560	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	1.6591932203085E-4	0.112
18	3249558	A	T	18	3249560	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.56291584456334E-4	0.108
18	3249559	G	A	18	3249561	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.88563338073588E-5	0.002
18	3249559	G	C	18	3249561	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.88563338073588E-5	0.002
18	3249559	G	T	18	3249561	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.88563338073588E-5	0.002
18	3249560	T	A	18	3249562	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.00267205389289002	0.032
18	3249560	T	C	18	3249562	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.00225473075344595	0.03
18	3249560	T	G	18	3249562	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.00225473075344595	0.03
18	3249561	T	A	18	3249563	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.07770017689499E-4	0.0
18	3249561	T	C	18	3249563	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	4.01592652402579E-5	0.0
18	3249561	T	G	18	3249563	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	4.01592652402579E-5	0.0
18	3249719	A	C	18	3249721	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.7395485643605E-5	0.01
18	3249719	A	G	18	3249721	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.7395485643605E-5	0.008
18	3249719	A	T	18	3249721	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.03997877173435E-5	0.0
18	3249720	A	C	18	3249722	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.7395485643605E-5	0.122
18	3249720	A	G	18	3249722	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	6.7395485643605E-5	0.038
18	3249720	A	T	18	3249722	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.03997877173435E-5	0.0
18	3249721	G	A	18	3249723	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	4.28766987286446E-5	0.006
18	3249721	G	C	18	3249723	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.80635910608335E-5	0.004
18	3249721	G	T	18	3249723	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	4.28766987286446E-5	0.008
18	3249722	G	A	18	3249724	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.20639154229398E-5	0.0
18	3249722	G	C	18	3249724	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	4.28766987286446E-5	0.01
18	3249722	G	T	18	3249724	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.20639154229398E-5	0.002
18	3249723	T	A	18	3249725	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	9.16029726566022E-5	0.0
18	3249723	T	C	18	3249725	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	5.03997877173435E-5	0.0
18	3249723	T	G	18	3249725	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	5.03997877173435E-5	0.0
18	3249724	G	A	18	3249726	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.28766987286446E-5	0.008
18	3249724	G	C	18	3249726	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.80635910608335E-5	0.0
18	3249724	G	T	18	3249726	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.80635910608335E-5	0.004
18	3249725	G	A	18	3249727	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.28766987286446E-5	0.006
18	3249725	G	C	18	3249727	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.80635910608335E-5	0.0
18	3249725	G	T	18	3249727	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.80635910608335E-5	0.004
18	3249726	T	A	18	3249728	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.03997877173435E-5	0.002
18	3249726	T	C	18	3249728	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.7395485643605E-5	0.006
18	3249726	T	G	18	3249728	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.7395485643605E-5	0.008
18	3249727	G	A	18	3249729	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.28766987286446E-5	0.008
18	3249727	G	C	18	3249729	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.67406935090243E-5	0.0
18	3249727	G	T	18	3249729	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.80635910608335E-5	0.002
18	3249728	A	C	18	3249730	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.7395485643605E-5	0.008
18	3249728	A	G	18	3249730	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.7395485643605E-5	0.008
18	3249728	A	T	18	3249730	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.03997877173435E-5	0.002
18	3249729	A	C	18	3249731	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.7395485643605E-5	0.008
18	3249729	A	G	18	3249731	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.7395485643605E-5	0.008
18	3249729	A	T	18	3249731	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.03997877173435E-5	0.0
18	3252321	A	C	18	3252323	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.A1C:p.M1L;	0.00316434947706365	0.022
18	3252321	A	G	18	3252323	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.A1G:p.M1V;	0.00117232971843387	0.03
18	3252321	A	T	18	3252323	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.A1T:p.M1L;	0.0045802311785222	0.022
18	3252322	T	A	18	3252324	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.T2A:p.M1K;	0.00239422267119294	0.022
18	3252322	T	C	18	3252324	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.T2C:p.M1T;	0.00117232971843387	0.03
18	3252322	T	G	18	3252324	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.T2G:p.M1R;	0.00117232971843387	0.03
18	3252323	G	A	18	3252325	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.G3A:p.M1I;	0.0148371759462779	0.072
18	3252323	G	C	18	3252325	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.G3C:p.M1I;	0.0102833320419941	0.074
18	3252323	G	T	18	3252325	n	y	intronic	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon1:c.G3T:p.M1I;	0.0148371759462779	0.074
18	3252324	G	A	18	3252326	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon1:c.3+1G>A)	.	.	0.0148371759462779	0.086
18	3252324	G	C	18	3252326	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon1:c.3+1G>C)	.	.	0.0148371759462779	0.068
18	3252324	G	T	18	3252326	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon1:c.3+1G>T)	.	.	0.0148371759462779	0.068
18	3252325	T	A	18	3252327	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon1:c.3+2T>A)	.	.	0.0045802311785222	0.016
18	3252325	T	C	18	3252327	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon1:c.3+2T>C)	.	.	0.0045802311785222	0.022
18	3252325	T	G	18	3252327	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon1:c.3+2T>G)	.	.	0.0045802311785222	0.022
18	3252326	A	C	18	3252328	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.00239422267119294	0.028
18	3252326	A	G	18	3252328	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.00239422267119294	0.024
18	3252326	A	T	18	3252328	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	0.00242004415470464	0.026
18	3252327	T	A	18	3252329	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.83488359282596E-5	0.082
18	3252327	T	C	18	3252329	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.83488359282596E-5	0.008
18	3252327	T	G	18	3252329	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.83488359282596E-5	0.008
18	3252328	G	A	18	3252330	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	2.84193600056129E-5	0.0
18	3252328	G	C	18	3252330	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.83986519288603E-5	0.0
18	3252328	G	T	18	3252330	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.83986519288603E-5	0.0
18	3252329	G	A	18	3252331	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.64328173172739E-4	0.006
18	3252329	G	C	18	3252331	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.64328173172739E-4	0.006
18	3252329	G	T	18	3252331	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.64328173172739E-4	0.006
18	3252330	T	A	18	3252332	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.38731564659595E-5	0.002
18	3252330	T	C	18	3252332	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.38731564659595E-5	0.002
18	3252330	T	G	18	3252332	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	5.38731564659595E-5	0.002
18	3252331	A	C	18	3252333	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.74359842730815E-4	0.006
18	3252331	A	G	18	3252333	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.74359842730815E-4	0.006
18	3252331	A	T	18	3252333	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	1.74359842730815E-4	0.006
18	3252478	T	A	18	3252480	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.9469183429777E-5	0.0
18	3252478	T	C	18	3252480	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.9469183429777E-5	0.0
18	3252478	T	G	18	3252480	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.9469183429777E-5	0.0
18	3252479	A	C	18	3252481	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.821824429032E-4	0.002
18	3252479	A	G	18	3252481	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.821824429032E-4	0.002
18	3252479	A	T	18	3252481	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.821824429032E-4	0.002
18	3252480	G	A	18	3252482	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.75289494538373E-5	0.002
18	3252480	G	C	18	3252482	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.75289494538373E-5	0.002
18	3252480	G	T	18	3252482	n	y	intronic	MYL12A	.	.	UTR5	ENSG00000101608	.	.	3.75289494538373E-5	0.002
18	3252481	G	A	18	3252483	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	2.68219155180855E-5	0.0
18	3252481	G	C	18	3252483	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	2.68219155180855E-5	0.0
18	3252481	G	T	18	3252483	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	2.68219155180855E-5	0.0
18	3252482	T	A	18	3252484	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	3.821824429032E-4	0.002
18	3252482	T	C	18	3252484	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	2.55787372000163E-4	0.002
18	3252482	T	G	18	3252484	n	y	intronic	MYL12A	.	.	splicing	ENSG00000101608	.	.	2.55787372000163E-4	0.002
18	3252483	A	C	18	3252485	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.36106780005268E-5	0.0
18	3252483	A	G	18	3252485	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.36106780005268E-5	0.0
18	3252483	A	T	18	3252485	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.38047987314901E-5	0.0
18	3252484	A	C	18	3252486	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.455930068921E-5	0.002
18	3252484	A	G	18	3252486	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.455930068921E-5	0.002
18	3252484	A	T	18	3252486	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.455930068921E-5	0.002
18	3252485	G	A	18	3252487	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.40244684246139E-4	0.014
18	3252485	G	C	18	3252487	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	7.55948984093289E-5	0.014
18	3252485	G	T	18	3252487	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.40244684246139E-4	0.014
18	3252486	A	C	18	3252488	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.21557472225283E-5	0.0
18	3252486	A	G	18	3252488	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.21557472225283E-5	0.0
18	3252486	A	T	18	3252488	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.33132576485227E-5	0.0
18	3252487	G	A	18	3252489	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.80836250492109E-5	0.0
18	3252487	G	C	18	3252489	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.19570222169239E-5	0.0
18	3252487	G	T	18	3252489	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.19570222169239E-5	0.0
18	3252488	A	C	18	3252490	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.90028566392549E-5	0.004
18	3252488	A	G	18	3252490	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.90028566392549E-5	0.004
18	3252488	A	T	18	3252490	n	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.90028566392549E-5	0.002
18	3253219	T	A	18	3253221	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.425902393035834	0.552
18	3253219	T	C	18	3253221	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	7.04406625239508E-4	0.022
18	3253219	T	G	18	3253221	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0596809680263838	0.382
18	3253220	T	A	18	3253222	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.368377918894674	0.58
18	3253220	T	C	18	3253222	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0148115831713488	0.3
18	3253220	T	G	18	3253222	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.303201966445149	0.482
18	3253221	T	A	18	3253223	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.149500696120468	0.47
18	3253221	T	C	18	3253223	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.65756821804981E-4	0.014
18	3253221	T	G	18	3253223	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.014545903807207	0.362
18	3253222	C	A	18	3253224	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0047266131107633	0.086
18	3253222	C	G	18	3253224	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.00344183245887833	0.114
18	3253222	C	T	18	3253224	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.5570698627923E-5	0.002
18	3253223	C	A	18	3253225	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.00300544440108872	0.028
18	3253223	C	G	18	3253225	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.64262001046033E-4	0.024
18	3253223	C	T	18	3253225	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	7.94553724501823E-5	0.002
18	3253224	T	A	18	3253226	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0156494710584158	0.13
18	3253224	T	C	18	3253226	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.28563276996606E-4	0.004
18	3253224	T	G	18	3253226	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0310603414795158	0.196
18	3253225	A	C	18	3253227	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	7.14381866127656E-5	0.004
18	3253225	A	G	18	3253227	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.84601598307325E-5	0.002
18	3253225	A	T	18	3253227	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.05001504110012E-4	0.002
18	3253226	A	C	18	3253228	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	6.24435247647759E-5	0.0
18	3253226	A	G	18	3253228	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.999314656971988	0.966
18	3253226	A	T	18	3253228	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.05060833020141E-5	0.004
18	3253227	T	A	18	3253229	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.36392640307277E-4	0.004
18	3253227	T	C	18	3253229	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.15218889420052E-4	0.002
18	3253227	T	G	18	3253229	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.950480317796382	0.702
18	3253228	T	A	18	3253230	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.133976495419533	0.428
18	3253228	T	C	18	3253230	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.45179714295108E-5	0.022
18	3253228	T	G	18	3253230	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.999589159595557	0.792
18	3253229	A	C	18	3253231	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon2:c.4-2A>C)	.	.	0.999962958601995	0.806
18	3253229	A	G	18	3253231	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon2:c.4-2A>G)	.	.	0.999962958601995	0.806
18	3253229	A	T	18	3253231	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon2:c.4-2A>T)	.	.	0.999962958601995	0.844
18	3253230	G	A	18	3253232	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon2:c.4-1G>A)	.	.	0.999987205282477	0.772
18	3253230	G	C	18	3253232	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon2:c.4-1G>C)	.	.	0.999991289042512	0.774
18	3253230	G	T	18	3253232	y	y	splicing	MYL12A	.	.	splicing	ENSG00000101608(ENST00000580887:exon2:c.4-1G>T)	.	.	0.999991289042512	0.772
18	3253231	G	A	18	3253233	y	y	UTR5	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G4A:p.D2N;	0.686768384633272	0.556
18	3253231	G	C	18	3253233	y	y	UTR5	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G4C:p.D2H;	0.995853430475699	0.592
18	3253231	G	T	18	3253233	y	y	UTR5	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G4T:p.D2Y;	0.997630808793457	0.638
18	3253232	A	C	18	3253234	y	y	UTR5	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.A5C:p.D2A;	3.81288295083E-4	0.06
18	3253232	A	G	18	3253234	y	y	UTR5	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.A5G:p.D2G;	0.00101880827275232	0.024
18	3253232	A	T	18	3253234	y	y	UTR5	MYL12A	.	.	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.A5T:p.D2V;	9.33258941814094E-4	0.022
18	3253424	T	A	18	3253426	y	y	exonic	MYL12A	stopgain SNV	MYL12A:NM_006471:exon2:c.T179A:p.L60X;	exonic	ENSG00000101608	stopgain SNV	ENSG00000101608:ENST00000580887:exon2:c.T197A:p.L66X;ENSG00000101608:ENST00000578611:exon3:c.T179A:p.L60X;ENSG00000101608:ENST00000536605:exon2:c.T179A:p.L60X;ENSG00000101608:ENST00000578562:exon2:c.T179A:p.L60X;ENSG00000101608:ENST00000579226:exon2:c.T179A:p.L60X;ENSG00000101608:ENST00000217652:exon2:c.T179A:p.L60X;	0.798369361989811	0.702
18	3253424	T	C	18	3253426	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon2:c.T179C:p.L60S;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.T197C:p.L66S;ENSG00000101608:ENST00000578611:exon3:c.T179C:p.L60S;ENSG00000101608:ENST00000536605:exon2:c.T179C:p.L60S;ENSG00000101608:ENST00000578562:exon2:c.T179C:p.L60S;ENSG00000101608:ENST00000579226:exon2:c.T179C:p.L60S;ENSG00000101608:ENST00000217652:exon2:c.T179C:p.L60S;	0.720737285000574	0.632
18	3253424	T	G	18	3253426	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon2:c.T179G:p.L60W;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.T197G:p.L66W;ENSG00000101608:ENST00000578611:exon3:c.T179G:p.L60W;ENSG00000101608:ENST00000536605:exon2:c.T179G:p.L60W;ENSG00000101608:ENST00000578562:exon2:c.T179G:p.L60W;ENSG00000101608:ENST00000579226:exon2:c.T179G:p.L60W;ENSG00000101608:ENST00000217652:exon2:c.T179G:p.L60W;	0.908689308087772	0.678
18	3253425	G	A	18	3253427	y	y	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon2:c.G180A:p.L60L;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G198A:p.L66L;ENSG00000101608:ENST00000578611:exon3:c.G180A:p.L60L;ENSG00000101608:ENST00000536605:exon2:c.G180A:p.L60L;ENSG00000101608:ENST00000578562:exon2:c.G180A:p.L60L;ENSG00000101608:ENST00000579226:exon2:c.G180A:p.L60L;ENSG00000101608:ENST00000217652:exon2:c.G180A:p.L60L;	8.05371096202282E-5	0.03
18	3253425	G	C	18	3253427	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon2:c.G180C:p.L60F;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G198C:p.L66F;ENSG00000101608:ENST00000578611:exon3:c.G180C:p.L60F;ENSG00000101608:ENST00000536605:exon2:c.G180C:p.L60F;ENSG00000101608:ENST00000578562:exon2:c.G180C:p.L60F;ENSG00000101608:ENST00000579226:exon2:c.G180C:p.L60F;ENSG00000101608:ENST00000217652:exon2:c.G180C:p.L60F;	1.10114693426783E-4	0.012
18	3253425	G	T	18	3253427	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon2:c.G180T:p.L60F;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G198T:p.L66F;ENSG00000101608:ENST00000578611:exon3:c.G180T:p.L60F;ENSG00000101608:ENST00000536605:exon2:c.G180T:p.L60F;ENSG00000101608:ENST00000578562:exon2:c.G180T:p.L60F;ENSG00000101608:ENST00000579226:exon2:c.G180T:p.L60F;ENSG00000101608:ENST00000217652:exon2:c.G180T:p.L60F;	3.29930490593767E-4	0.046
18	3253426	G	A	18	3253428	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon2:c.G181A:p.G61R;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G199A:p.G67R;ENSG00000101608:ENST00000578611:exon3:c.G181A:p.G61R;ENSG00000101608:ENST00000536605:exon2:c.G181A:p.G61R;ENSG00000101608:ENST00000578562:exon2:c.G181A:p.G61R;ENSG00000101608:ENST00000579226:exon2:c.G181A:p.G61R;ENSG00000101608:ENST00000217652:exon2:c.G181A:p.G61R;	0.99999771883435	0.996
18	3253426	G	C	18	3253428	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon2:c.G181C:p.G61R;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G199C:p.G67R;ENSG00000101608:ENST00000578611:exon3:c.G181C:p.G61R;ENSG00000101608:ENST00000536605:exon2:c.G181C:p.G61R;ENSG00000101608:ENST00000578562:exon2:c.G181C:p.G61R;ENSG00000101608:ENST00000579226:exon2:c.G181C:p.G61R;ENSG00000101608:ENST00000217652:exon2:c.G181C:p.G61R;	0.999995863615287	0.998
18	3253426	G	T	18	3253428	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon2:c.G181T:p.G61W;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon2:c.G199T:p.G67W;ENSG00000101608:ENST00000578611:exon3:c.G181T:p.G61W;ENSG00000101608:ENST00000536605:exon2:c.G181T:p.G61W;ENSG00000101608:ENST00000578562:exon2:c.G181T:p.G61W;ENSG00000101608:ENST00000579226:exon2:c.G181T:p.G61W;ENSG00000101608:ENST00000217652:exon2:c.G181T:p.G61W;	0.999991322023243	0.996
18	3253427	G	A	18	3253429	y	y	splicing	MYL12A(NM_006471:exon2:c.181+1G>A)	.	.	splicing	ENSG00000101608(ENST00000579226:exon2:c.181+1G>A;ENST00000217652:exon2:c.181+1G>A;ENST00000578611:exon3:c.181+1G>A;ENST00000578562:exon2:c.181+1G>A;ENST00000536605:exon2:c.181+1G>A;ENST00000580887:exon2:c.199+1G>A)	.	.	0.999961878876652	0.914
18	3253427	G	C	18	3253429	y	y	splicing	MYL12A(NM_006471:exon2:c.181+1G>C)	.	.	splicing	ENSG00000101608(ENST00000579226:exon2:c.181+1G>C;ENST00000217652:exon2:c.181+1G>C;ENST00000578611:exon3:c.181+1G>C;ENST00000578562:exon2:c.181+1G>C;ENST00000536605:exon2:c.181+1G>C;ENST00000580887:exon2:c.199+1G>C)	.	.	0.999961878876652	0.926
18	3253427	G	T	18	3253429	y	y	splicing	MYL12A(NM_006471:exon2:c.181+1G>T)	.	.	splicing	ENSG00000101608(ENST00000579226:exon2:c.181+1G>T;ENST00000217652:exon2:c.181+1G>T;ENST00000578611:exon3:c.181+1G>T;ENST00000578562:exon2:c.181+1G>T;ENST00000536605:exon2:c.181+1G>T;ENST00000580887:exon2:c.199+1G>T)	.	.	0.999961878876652	0.922
18	3253428	T	A	18	3253430	y	y	splicing	MYL12A(NM_006471:exon2:c.181+2T>A)	.	.	splicing	ENSG00000101608(ENST00000579226:exon2:c.181+2T>A;ENST00000217652:exon2:c.181+2T>A;ENST00000578611:exon3:c.181+2T>A;ENST00000578562:exon2:c.181+2T>A;ENST00000536605:exon2:c.181+2T>A;ENST00000580887:exon2:c.199+2T>A)	.	.	0.999954785339841	0.934
18	3253428	T	C	18	3253430	y	y	splicing	MYL12A(NM_006471:exon2:c.181+2T>C)	.	.	splicing	ENSG00000101608(ENST00000579226:exon2:c.181+2T>C;ENST00000217652:exon2:c.181+2T>C;ENST00000578611:exon3:c.181+2T>C;ENST00000578562:exon2:c.181+2T>C;ENST00000536605:exon2:c.181+2T>C;ENST00000580887:exon2:c.199+2T>C)	.	.	0.999459040952601	0.922
18	3253428	T	G	18	3253430	y	y	splicing	MYL12A(NM_006471:exon2:c.181+2T>G)	.	.	splicing	ENSG00000101608(ENST00000579226:exon2:c.181+2T>G;ENST00000217652:exon2:c.181+2T>G;ENST00000578611:exon3:c.181+2T>G;ENST00000578562:exon2:c.181+2T>G;ENST00000536605:exon2:c.181+2T>G;ENST00000580887:exon2:c.199+2T>G)	.	.	0.999955202219928	0.942
18	3253429	A	C	18	3253431	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.99906369949767	0.862
18	3253429	A	G	18	3253431	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.992249878709495	0.742
18	3253429	A	T	18	3253431	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.99906369949767	0.87
18	3253430	A	C	18	3253432	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.986239322164127	0.734
18	3253430	A	G	18	3253432	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.996083109529233	0.74
18	3253430	A	T	18	3253432	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.965485742637636	0.708
18	3253431	T	A	18	3253433	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.8246875046313E-4	0.038
18	3253431	T	C	18	3253433	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	5.14192152353088E-5	0.002
18	3253431	T	G	18	3253433	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.51921066268895E-4	0.036
18	3253432	G	A	18	3253434	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.23981490776526E-5	0.0
18	3253432	G	C	18	3253434	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.04303968888909E-5	0.022
18	3253432	G	T	18	3253434	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.06481237244302E-5	0.02
18	3253433	C	A	18	3253435	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.16449247501814E-4	0.008
18	3253433	C	G	18	3253435	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.4452616987139E-4	0.044
18	3253433	C	T	18	3253435	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.51299692318175E-4	0.034
18	3253434	T	A	18	3253436	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.71664840939203E-4	0.002
18	3253434	T	C	18	3253436	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.47038802777241E-4	0.042
18	3253434	T	G	18	3253436	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.65195534892608E-4	0.01
18	3253875	T	A	18	3253877	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.246615039399832	0.57
18	3253875	T	C	18	3253877	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.97323599791716E-5	0.052
18	3253875	T	G	18	3253877	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0217958237665516	0.442
18	3253876	T	A	18	3253878	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0864225118558455	0.418
18	3253876	T	C	18	3253878	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.18686157343725E-4	0.036
18	3253876	T	G	18	3253878	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.123518847649405	0.412
18	3253877	A	C	18	3253879	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.63161213040815E-6	0.018
18	3253877	A	G	18	3253879	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.3906098343E-4	0.066
18	3253877	A	T	18	3253879	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.76294831486095E-5	0.044
18	3253878	A	C	18	3253880	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.87831525314483E-5	0.018
18	3253878	A	G	18	3253880	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.998147503673117	0.938
18	3253878	A	T	18	3253880	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.65310107485305E-5	0.042
18	3253879	A	C	18	3253881	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.1399198670939E-5	0.014
18	3253879	A	G	18	3253881	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.998147503673117	0.918
18	3253879	A	T	18	3253881	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	3.14126747889671E-5	0.024
18	3253880	A	C	18	3253882	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.1399198670939E-5	0.016
18	3253880	A	G	18	3253882	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.997922924571591	0.966
18	3253880	A	T	18	3253882	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.98960947463071E-5	0.018
18	3253881	A	C	18	3253883	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.18571434983417E-5	0.114
18	3253881	A	G	18	3253883	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.980134348675987	0.808
18	3253881	A	T	18	3253883	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.06571533418224E-5	0.022
18	3253882	T	A	18	3253884	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.742640763351875	0.604
18	3253882	T	C	18	3253884	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0045729137257768	0.216
18	3253882	T	G	18	3253884	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.999789328245069	0.942
18	3253883	T	A	18	3253885	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	4.09417921320982E-4	0.02
18	3253883	T	C	18	3253885	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.35381748456977E-4	0.026
18	3253883	T	G	18	3253885	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	9.86128287613209E-4	0.026
18	3253884	T	A	18	3253886	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.021920394071757	0.276
18	3253884	T	C	18	3253886	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.43094790515391E-4	0.016
18	3253884	T	G	18	3253886	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.689424595740549	0.524
18	3253885	A	C	18	3253887	y	y	splicing	MYL12A(NM_006471:exon3:c.182-2A>C)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.182-2A>C;ENST00000217652:exon3:c.182-2A>C;ENST00000578611:exon4:c.182-2A>C;ENST00000578562:exon3:c.182-2A>C;ENST00000536605:exon3:c.182-2A>C;ENST00000580887:exon3:c.200-2A>C)	.	.	0.999888596551852	0.914
18	3253885	A	G	18	3253887	y	y	splicing	MYL12A(NM_006471:exon3:c.182-2A>G)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.182-2A>G;ENST00000217652:exon3:c.182-2A>G;ENST00000578611:exon4:c.182-2A>G;ENST00000578562:exon3:c.182-2A>G;ENST00000536605:exon3:c.182-2A>G;ENST00000580887:exon3:c.200-2A>G)	.	.	0.999888596551852	0.914
18	3253885	A	T	18	3253887	y	y	splicing	MYL12A(NM_006471:exon3:c.182-2A>T)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.182-2A>T;ENST00000217652:exon3:c.182-2A>T;ENST00000578611:exon4:c.182-2A>T;ENST00000578562:exon3:c.182-2A>T;ENST00000536605:exon3:c.182-2A>T;ENST00000580887:exon3:c.200-2A>T)	.	.	0.999888596551852	0.916
18	3253886	G	A	18	3253888	y	y	splicing	MYL12A(NM_006471:exon3:c.182-1G>A)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.182-1G>A;ENST00000217652:exon3:c.182-1G>A;ENST00000578611:exon4:c.182-1G>A;ENST00000578562:exon3:c.182-1G>A;ENST00000536605:exon3:c.182-1G>A;ENST00000580887:exon3:c.200-1G>A)	.	.	0.999973008492926	0.882
18	3253886	G	C	18	3253888	y	y	splicing	MYL12A(NM_006471:exon3:c.182-1G>C)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.182-1G>C;ENST00000217652:exon3:c.182-1G>C;ENST00000578611:exon4:c.182-1G>C;ENST00000578562:exon3:c.182-1G>C;ENST00000536605:exon3:c.182-1G>C;ENST00000580887:exon3:c.200-1G>C)	.	.	0.999973008492926	0.898
18	3253886	G	T	18	3253888	y	y	splicing	MYL12A(NM_006471:exon3:c.182-1G>T)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.182-1G>T;ENST00000217652:exon3:c.182-1G>T;ENST00000578611:exon4:c.182-1G>T;ENST00000578562:exon3:c.182-1G>T;ENST00000536605:exon3:c.182-1G>T;ENST00000580887:exon3:c.200-1G>T)	.	.	0.999973008492926	0.896
18	3253887	G	A	18	3253889	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.G182A:p.G61E;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G200A:p.G67E;ENSG00000101608:ENST00000578611:exon4:c.G182A:p.G61E;ENSG00000101608:ENST00000536605:exon3:c.G182A:p.G61E;ENSG00000101608:ENST00000578562:exon3:c.G182A:p.G61E;ENSG00000101608:ENST00000579226:exon3:c.G182A:p.G61E;ENSG00000101608:ENST00000217652:exon3:c.G182A:p.G61E;	0.99979063232205	0.926
18	3253887	G	C	18	3253889	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.G182C:p.G61A;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G200C:p.G67A;ENSG00000101608:ENST00000578611:exon4:c.G182C:p.G61A;ENSG00000101608:ENST00000536605:exon3:c.G182C:p.G61A;ENSG00000101608:ENST00000578562:exon3:c.G182C:p.G61A;ENSG00000101608:ENST00000579226:exon3:c.G182C:p.G61A;ENSG00000101608:ENST00000217652:exon3:c.G182C:p.G61A;	0.999858343616191	0.936
18	3253887	G	T	18	3253889	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.G182T:p.G61V;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G200T:p.G67V;ENSG00000101608:ENST00000578611:exon4:c.G182T:p.G61V;ENSG00000101608:ENST00000536605:exon3:c.G182T:p.G61V;ENSG00000101608:ENST00000578562:exon3:c.G182T:p.G61V;ENSG00000101608:ENST00000579226:exon3:c.G182T:p.G61V;ENSG00000101608:ENST00000217652:exon3:c.G182T:p.G61V;	0.999927798990675	0.968
18	3253888	G	A	18	3253890	y	y	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon3:c.G183A:p.G61G;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G201A:p.G67G;ENSG00000101608:ENST00000578611:exon4:c.G183A:p.G61G;ENSG00000101608:ENST00000536605:exon3:c.G183A:p.G61G;ENSG00000101608:ENST00000578562:exon3:c.G183A:p.G61G;ENSG00000101608:ENST00000579226:exon3:c.G183A:p.G61G;ENSG00000101608:ENST00000217652:exon3:c.G183A:p.G61G;	7.93500656732799E-5	0.06
18	3253888	G	C	18	3253890	y	y	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon3:c.G183C:p.G61G;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G201C:p.G67G;ENSG00000101608:ENST00000578611:exon4:c.G183C:p.G61G;ENSG00000101608:ENST00000536605:exon3:c.G183C:p.G61G;ENSG00000101608:ENST00000578562:exon3:c.G183C:p.G61G;ENSG00000101608:ENST00000579226:exon3:c.G183C:p.G61G;ENSG00000101608:ENST00000217652:exon3:c.G183C:p.G61G;	5.66677453485377E-5	0.014
18	3253888	G	T	18	3253890	y	y	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon3:c.G183T:p.G61G;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G201T:p.G67G;ENSG00000101608:ENST00000578611:exon4:c.G183T:p.G61G;ENSG00000101608:ENST00000536605:exon3:c.G183T:p.G61G;ENSG00000101608:ENST00000578562:exon3:c.G183T:p.G61G;ENSG00000101608:ENST00000579226:exon3:c.G183T:p.G61G;ENSG00000101608:ENST00000217652:exon3:c.G183T:p.G61G;	8.99307813931291E-5	0.018
18	3254046	C	A	18	3254048	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.C341A:p.T114N;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.C359A:p.T120N;ENSG00000101608:ENST00000578611:exon4:c.C341A:p.T114N;ENSG00000101608:ENST00000536605:exon3:c.C341A:p.T114N;ENSG00000101608:ENST00000578562:exon3:c.C341A:p.T114N;ENSG00000101608:ENST00000579226:exon3:c.C341A:p.T114N;ENSG00000101608:ENST00000217652:exon3:c.C341A:p.T114N;	0.151594748690727	0.314
18	3254046	C	G	18	3254048	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.C341G:p.T114S;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.C359G:p.T120S;ENSG00000101608:ENST00000578611:exon4:c.C341G:p.T114S;ENSG00000101608:ENST00000536605:exon3:c.C341G:p.T114S;ENSG00000101608:ENST00000578562:exon3:c.C341G:p.T114S;ENSG00000101608:ENST00000579226:exon3:c.C341G:p.T114S;ENSG00000101608:ENST00000217652:exon3:c.C341G:p.T114S;	0.00226475172528385	0.086
18	3254046	C	T	18	3254048	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.C341T:p.T114I;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.C359T:p.T120I;ENSG00000101608:ENST00000578611:exon4:c.C341T:p.T114I;ENSG00000101608:ENST00000536605:exon3:c.C341T:p.T114I;ENSG00000101608:ENST00000578562:exon3:c.C341T:p.T114I;ENSG00000101608:ENST00000579226:exon3:c.C341T:p.T114I;ENSG00000101608:ENST00000217652:exon3:c.C341T:p.T114I;	0.779902793364288	0.274
18	3254047	T	A	18	3254049	y	y	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon3:c.T342A:p.T114T;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.T360A:p.T120T;ENSG00000101608:ENST00000578611:exon4:c.T342A:p.T114T;ENSG00000101608:ENST00000536605:exon3:c.T342A:p.T114T;ENSG00000101608:ENST00000578562:exon3:c.T342A:p.T114T;ENSG00000101608:ENST00000579226:exon3:c.T342A:p.T114T;ENSG00000101608:ENST00000217652:exon3:c.T342A:p.T114T;	1.23906590265474E-4	0.118
18	3254047	T	C	18	3254049	y	y	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon3:c.T342C:p.T114T;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.T360C:p.T120T;ENSG00000101608:ENST00000578611:exon4:c.T342C:p.T114T;ENSG00000101608:ENST00000536605:exon3:c.T342C:p.T114T;ENSG00000101608:ENST00000578562:exon3:c.T342C:p.T114T;ENSG00000101608:ENST00000579226:exon3:c.T342C:p.T114T;ENSG00000101608:ENST00000217652:exon3:c.T342C:p.T114T;	1.59435735735694E-4	0.008
18	3254047	T	G	18	3254049	y	y	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon3:c.T342G:p.T114T;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.T360G:p.T120T;ENSG00000101608:ENST00000578611:exon4:c.T342G:p.T114T;ENSG00000101608:ENST00000536605:exon3:c.T342G:p.T114T;ENSG00000101608:ENST00000578562:exon3:c.T342G:p.T114T;ENSG00000101608:ENST00000579226:exon3:c.T342G:p.T114T;ENSG00000101608:ENST00000217652:exon3:c.T342G:p.T114T;	2.43627597149789E-4	0.024
18	3254048	G	A	18	3254050	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.G343A:p.G115S;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G361A:p.G121S;ENSG00000101608:ENST00000578611:exon4:c.G343A:p.G115S;ENSG00000101608:ENST00000536605:exon3:c.G343A:p.G115S;ENSG00000101608:ENST00000579226:exon3:c.G343A:p.G115S;ENSG00000101608:ENST00000217652:exon3:c.G343A:p.G115S;	0.999930180264409	0.964
18	3254048	G	C	18	3254050	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.G343C:p.G115R;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G361C:p.G121R;ENSG00000101608:ENST00000578611:exon4:c.G343C:p.G115R;ENSG00000101608:ENST00000536605:exon3:c.G343C:p.G115R;ENSG00000101608:ENST00000579226:exon3:c.G343C:p.G115R;ENSG00000101608:ENST00000217652:exon3:c.G343C:p.G115R;	0.999955438128636	0.966
18	3254048	G	T	18	3254050	y	y	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon3:c.G343T:p.G115C;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon3:c.G361T:p.G121C;ENSG00000101608:ENST00000578611:exon4:c.G343T:p.G115C;ENSG00000101608:ENST00000536605:exon3:c.G343T:p.G115C;ENSG00000101608:ENST00000579226:exon3:c.G343T:p.G115C;ENSG00000101608:ENST00000217652:exon3:c.G343T:p.G115C;	0.999948389719094	0.976
18	3254049	G	A	18	3254051	y	y	splicing	MYL12A(NM_006471:exon3:c.343+1G>A)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.343+1G>A;ENST00000217652:exon3:c.343+1G>A;ENST00000578611:exon4:c.343+1G>A;ENST00000536605:exon3:c.343+1G>A;ENST00000580887:exon3:c.361+1G>A)	.	.	0.999989072007339	0.934
18	3254049	G	C	18	3254051	y	y	splicing	MYL12A(NM_006471:exon3:c.343+1G>C)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.343+1G>C;ENST00000217652:exon3:c.343+1G>C;ENST00000578611:exon4:c.343+1G>C;ENST00000536605:exon3:c.343+1G>C;ENST00000580887:exon3:c.361+1G>C)	.	.	0.999989072007339	0.932
18	3254049	G	T	18	3254051	y	y	splicing	MYL12A(NM_006471:exon3:c.343+1G>T)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.343+1G>T;ENST00000217652:exon3:c.343+1G>T;ENST00000578611:exon4:c.343+1G>T;ENST00000536605:exon3:c.343+1G>T;ENST00000580887:exon3:c.361+1G>T)	.	.	0.999989072007339	0.934
18	3254050	T	A	18	3254052	y	y	splicing	MYL12A(NM_006471:exon3:c.343+2T>A)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.343+2T>A;ENST00000217652:exon3:c.343+2T>A;ENST00000578611:exon4:c.343+2T>A;ENST00000536605:exon3:c.343+2T>A;ENST00000580887:exon3:c.361+2T>A)	.	.	0.999988247793601	0.926
18	3254050	T	C	18	3254052	y	y	splicing	MYL12A(NM_006471:exon3:c.343+2T>C)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.343+2T>C;ENST00000217652:exon3:c.343+2T>C;ENST00000578611:exon4:c.343+2T>C;ENST00000536605:exon3:c.343+2T>C;ENST00000580887:exon3:c.361+2T>C)	.	.	0.986973409415639	0.614
18	3254050	T	G	18	3254052	y	y	splicing	MYL12A(NM_006471:exon3:c.343+2T>G)	.	.	splicing	ENSG00000101608(ENST00000579226:exon3:c.343+2T>G;ENST00000217652:exon3:c.343+2T>G;ENST00000578611:exon4:c.343+2T>G;ENST00000536605:exon3:c.343+2T>G;ENST00000580887:exon3:c.361+2T>G)	.	.	0.999988247793601	0.918
18	3254051	A	C	18	3254053	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.909447823757175	0.642
18	3254051	A	G	18	3254053	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	8.78651638235334E-4	0.02
18	3254051	A	T	18	3254053	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.956422505072671	0.544
18	3254052	A	C	18	3254054	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0241958668886049	0.276
18	3254052	A	G	18	3254054	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.474528803158115	0.396
18	3254052	A	T	18	3254054	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0962857737788339	0.384
18	3254053	G	A	18	3254055	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.996776716076853	0.674
18	3254053	G	C	18	3254055	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.996776195168598	0.738
18	3254053	G	T	18	3254055	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.997020464256708	0.68
18	3254054	T	A	18	3254056	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.0119238802146831	0.322
18	3254054	T	C	18	3254056	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.015423074316072	0.356
18	3254054	T	G	18	3254056	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	0.00133738452896583	0.234
18	3254055	G	A	18	3254057	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.0053986353963E-5	0.004
18	3254055	G	C	18	3254057	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.95935230432043E-5	0.004
18	3254055	G	T	18	3254057	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	2.0053986353963E-5	0.004
18	3254056	A	C	18	3254058	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.18226121724184E-5	0.0
18	3254056	A	G	18	3254058	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.30918200647299E-5	0.0
18	3254056	A	T	18	3254058	y	y	intronic	MYL12A	.	.	intronic	ENSG00000101608	.	.	1.82617876703811E-5	0.0
18	3255732	T	A	18	3255734	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	2.74513653255073E-4	0.114
18	3255732	T	C	18	3255734	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	4.55457606283099E-5	0.002
18	3255732	T	G	18	3255734	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	1.44442365001024E-4	0.056
18	3255733	T	A	18	3255735	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	1.08120151175579E-4	0.044
18	3255733	T	C	18	3255735	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	3.54357080620435E-5	0.022
18	3255733	T	G	18	3255735	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	1.00547335854656E-4	0.078
18	3255734	T	A	18	3255736	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	6.29707470496675E-4	0.062
18	3255734	T	C	18	3255736	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	1.90921870480537E-4	0.0
18	3255734	T	G	18	3255736	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	4.74045313035696E-4	0.078
18	3255735	A	C	18	3255737	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	2.27330276585698E-5	0.0
18	3255735	A	G	18	3255737	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	1.18541916763146E-4	0.0
18	3255735	A	T	18	3255737	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	2.51096834060348E-5	0.0
18	3255736	T	A	18	3255738	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	2.37277540049345E-4	0.036
18	3255736	T	C	18	3255738	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	3.3283904066846E-5	0.002
18	3255736	T	G	18	3255738	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.99963161034724	0.988
18	3255737	T	A	18	3255739	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.00150391856283803	0.084
18	3255737	T	C	18	3255739	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	3.01898974441684E-5	0.0
18	3255737	T	G	18	3255739	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	2.90738976775898E-4	0.026
18	3255738	C	A	18	3255740	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.00457485960025135	0.18
18	3255738	C	G	18	3255740	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.00250625159398968	0.138
18	3255738	C	T	18	3255740	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	1.09960718746206E-4	0.002
18	3255739	T	A	18	3255741	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	6.79705489527094E-4	0.19
18	3255739	T	C	18	3255741	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	5.87146332672304E-5	0.04
18	3255739	T	G	18	3255741	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.00577399307104353	0.244
18	3255740	C	A	18	3255742	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	9.54281564220736E-5	0.004
18	3255740	C	G	18	3255742	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	6.75739349370965E-5	0.0
18	3255740	C	T	18	3255742	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	2.19196424853796E-4	0.006
18	3255741	C	A	18	3255743	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.537779919603059	0.334
18	3255741	C	G	18	3255743	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.994839797763232	0.774
18	3255741	C	T	18	3255743	y	n	intronic	MYL12A	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.00338802069808337	0.096
18	3255742	A	C	18	3255744	y	n	splicing	MYL12A(NM_006471:exon4:c.344-2A>C)	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.999978952611685	0.926
18	3255742	A	G	18	3255744	y	n	splicing	MYL12A(NM_006471:exon4:c.344-2A>G)	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.999978952611685	0.926
18	3255742	A	T	18	3255744	y	n	splicing	MYL12A(NM_006471:exon4:c.344-2A>T)	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.999988247793601	0.924
18	3255743	G	A	18	3255745	y	n	splicing	MYL12A(NM_006471:exon4:c.344-1G>A)	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.999986675681007	0.924
18	3255743	G	C	18	3255745	y	n	splicing	MYL12A(NM_006471:exon4:c.344-1G>C)	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.999986675681007	0.926
18	3255743	G	T	18	3255745	y	n	splicing	MYL12A(NM_006471:exon4:c.344-1G>T)	.	.	ncRNA_exonic	ENSG00000264235	.	.	0.999986675681007	0.926
18	3255744	G	A	18	3255746	y	n	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon4:c.G344A:p.G115D;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon4:c.G362A:p.G121D;ENSG00000101608:ENST00000578611:exon5:c.G344A:p.G115D;ENSG00000101608:ENST00000536605:exon4:c.G344A:p.G115D;ENSG00000101608:ENST00000579226:exon4:c.G344A:p.G115D;ENSG00000101608:ENST00000217652:exon4:c.G344A:p.G115D;	0.996590077954494	0.872
18	3255744	G	C	18	3255746	y	n	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon4:c.G344C:p.G115A;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon4:c.G362C:p.G121A;ENSG00000101608:ENST00000578611:exon5:c.G344C:p.G115A;ENSG00000101608:ENST00000536605:exon4:c.G344C:p.G115A;ENSG00000101608:ENST00000579226:exon4:c.G344C:p.G115A;ENSG00000101608:ENST00000217652:exon4:c.G344C:p.G115A;	0.99935326742946	0.934
18	3255744	G	T	18	3255746	y	n	exonic	MYL12A	nonsynonymous SNV	MYL12A:NM_006471:exon4:c.G344T:p.G115V;	exonic	ENSG00000101608	nonsynonymous SNV	ENSG00000101608:ENST00000580887:exon4:c.G362T:p.G121V;ENSG00000101608:ENST00000578611:exon5:c.G344T:p.G115V;ENSG00000101608:ENST00000536605:exon4:c.G344T:p.G115V;ENSG00000101608:ENST00000579226:exon4:c.G344T:p.G115V;ENSG00000101608:ENST00000217652:exon4:c.G344T:p.G115V;	0.999550299858478	0.948
18	3255745	C	A	18	3255747	y	n	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon4:c.C345A:p.G115G;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon4:c.C363A:p.G121G;ENSG00000101608:ENST00000578611:exon5:c.C345A:p.G115G;ENSG00000101608:ENST00000536605:exon4:c.C345A:p.G115G;ENSG00000101608:ENST00000579226:exon4:c.C345A:p.G115G;ENSG00000101608:ENST00000217652:exon4:c.C345A:p.G115G;	0.00250453202995516	0.094
18	3255745	C	G	18	3255747	y	n	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon4:c.C345G:p.G115G;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon4:c.C363G:p.G121G;ENSG00000101608:ENST00000578611:exon5:c.C345G:p.G115G;ENSG00000101608:ENST00000536605:exon4:c.C345G:p.G115G;ENSG00000101608:ENST00000579226:exon4:c.C345G:p.G115G;ENSG00000101608:ENST00000217652:exon4:c.C345G:p.G115G;	0.00272510053699072	0.092
18	3255745	C	T	18	3255747	y	n	exonic	MYL12A	synonymous SNV	MYL12A:NM_006471:exon4:c.C345T:p.G115G;	exonic	ENSG00000101608	synonymous SNV	ENSG00000101608:ENST00000580887:exon4:c.C363T:p.G121G;ENSG00000101608:ENST00000578611:exon5:c.C345T:p.G115G;ENSG00000101608:ENST00000536605:exon4:c.C345T:p.G115G;ENSG00000101608:ENST00000579226:exon4:c.C345T:p.G115G;ENSG00000101608:ENST00000217652:exon4:c.C345T:p.G115G;	8.39881062307323E-4	0.082
18	3262233	C	A	18	3262235	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.63352212029375E-4	.
18	3262233	C	G	18	3262235	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.63352212029375E-4	.
18	3262233	C	T	18	3262235	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.63352212029375E-4	.
18	3262234	G	A	18	3262236	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	2.64438009282318E-4	.
18	3262234	G	C	18	3262236	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	2.64438009282318E-4	.
18	3262234	G	T	18	3262236	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	2.64438009282318E-4	.
18	3262235	G	A	18	3262237	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	8.79434266166542E-4	.
18	3262235	G	C	18	3262237	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	0.00108330245016104	.
18	3262235	G	T	18	3262237	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	8.79434266166542E-4	.
18	3262236	G	A	18	3262238	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.039452336926982	.
18	3262236	G	C	18	3262238	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.00879646548310178	.
18	3262236	G	T	18	3262238	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.00879646548310178	.
18	3262237	T	A	18	3262239	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.0247535405538281	.
18	3262237	T	C	18	3262239	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.0179967073692605	.
18	3262237	T	G	18	3262239	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.0179967073692605	.
18	3262238	G	A	18	3262240	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0147937756344984	.
18	3262238	G	C	18	3262240	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0181645875315567	.
18	3262238	G	T	18	3262240	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0147937756344984	.
18	3262239	A	C	18	3262241	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0137685376115468	.
18	3262239	A	G	18	3262241	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0137685376115468	.
18	3262239	A	T	18	3262241	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00618618989856905	.
18	3262240	G	A	18	3262242	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0105435817807201	.
18	3262240	G	C	18	3262242	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0147937756344984	.
18	3262240	G	T	18	3262242	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0109275776798221	.
18	3262241	T	A	18	3262243	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00618618989856905	.
18	3262241	T	C	18	3262243	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0137685376115468	.
18	3262241	T	G	18	3262243	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0137685376115468	.
18	3262242	C	A	18	3262244	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00124010537180182	.
18	3262242	C	G	18	3262244	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00152745557879079	.
18	3262242	C	T	18	3262244	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00124010537180182	.
18	3262243	G	A	18	3262245	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.66459292579207E-4	.
18	3262243	G	C	18	3262245	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.71333552957447E-4	.
18	3262243	G	T	18	3262245	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.62276619737899E-4	.
18	3262752	A	C	18	3262754	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.74465457702347E-4	.
18	3262752	A	G	18	3262754	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.74465457702347E-4	.
18	3262752	A	T	18	3262754	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.74465457702347E-4	.
18	3262753	A	C	18	3262755	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	9.08931383105798E-4	.
18	3262753	A	G	18	3262755	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	9.08931383105798E-4	.
18	3262753	A	T	18	3262755	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	0.00140027496587015	.
18	3262754	G	A	18	3262756	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.11132588335214E-4	.
18	3262754	G	C	18	3262756	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.11132588335214E-4	.
18	3262754	G	T	18	3262756	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.11132588335214E-4	.
18	3262755	G	A	18	3262757	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	1.0786292679499E-4	.
18	3262755	G	C	18	3262757	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	1.0786292679499E-4	.
18	3262755	G	T	18	3262757	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	1.0786292679499E-4	.
18	3262756	T	A	18	3262758	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	5.88771122915094E-5	.
18	3262756	T	C	18	3262758	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	5.88771122915094E-5	.
18	3262756	T	G	18	3262758	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	5.88771122915094E-5	.
18	3262757	G	A	18	3262759	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.07402321646309E-4	.
18	3262757	G	C	18	3262759	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.266209232312E-4	.
18	3262757	G	T	18	3262759	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.07402321646309E-4	.
18	3262758	A	C	18	3262760	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	5.88771122915094E-5	.
18	3262758	A	G	18	3262760	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	5.88771122915094E-5	.
18	3262758	A	T	18	3262760	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.07009996904819E-4	.
18	3262759	A	C	18	3262761	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	3.11338393351538E-4	.
18	3262759	A	G	18	3262761	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	3.11338393351538E-4	.
18	3262759	A	T	18	3262761	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	2.47595245500426E-4	.
18	3262760	G	A	18	3262762	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	2.30203257673761E-4	.
18	3262760	G	C	18	3262762	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.26665307961193E-4	.
18	3262760	G	T	18	3262762	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.26665307961193E-4	.
18	3262761	C	A	18	3262763	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.00592554996821E-4	.
18	3262761	C	G	18	3262763	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.00592554996821E-4	.
18	3262761	C	T	18	3262763	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.00592554996821E-4	.
18	3262762	C	A	18	3262764	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	3.26901278357312E-5	.
18	3262762	C	G	18	3262764	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	4.3714076965438E-5	.
18	3262762	C	T	18	3262764	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	3.26901278357312E-5	.
18	3263134	T	A	18	3263136	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	4.84727521159349E-5	.
18	3263134	T	C	18	3263136	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	5.35103536396845E-5	.
18	3263134	T	G	18	3263136	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	5.35103536396845E-5	.
18	3263135	A	C	18	3263137	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	0.00824732400305925	.
18	3263135	A	G	18	3263137	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	0.00624263717016525	.
18	3263135	A	T	18	3263137	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	0.0137836551182767	.
18	3263136	G	A	18	3263138	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	9.90323676727421E-5	.
18	3263136	G	C	18	3263138	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	4.55856382657148E-5	.
18	3263136	G	T	18	3263138	n	y	intronic	MYL12B	.	.	UTR5	ENSG00000118680	.	.	8.45732671331804E-5	.
18	3263137	G	A	18	3263139	n	y	intronic	MYL12B	.	.	splicing	ENSG00000118680	.	.	2.09937202043682E-4	.
18	3263137	G	C	18	3263139	n	y	intronic	MYL12B	.	.	splicing	ENSG00000118680	.	.	9.69546650469038E-5	.
18	3263137	G	T	18	3263139	n	y	intronic	MYL12B	.	.	splicing	ENSG00000118680	.	.	1.0101002126847E-4	.
18	3263138	T	A	18	3263140	n	y	intronic	MYL12B	.	.	splicing	ENSG00000118680	.	.	2.7150574512508E-4	.
18	3263138	T	C	18	3263140	n	y	intronic	MYL12B	.	.	splicing	ENSG00000118680	.	.	2.03423531933272E-4	.
18	3263138	T	G	18	3263140	n	y	intronic	MYL12B	.	.	splicing	ENSG00000118680	.	.	2.03423531933272E-4	.
18	3263139	A	C	18	3263141	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.14902798161568E-4	.
18	3263139	A	G	18	3263141	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.14902798161568E-4	.
18	3263139	A	T	18	3263141	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	7.98777218316641E-4	.
18	3263140	A	C	18	3263142	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.49121815195795E-4	.
18	3263140	A	G	18	3263142	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.49121815195795E-4	.
18	3263140	A	T	18	3263142	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.18653400133399E-4	.
18	3263141	G	A	18	3263143	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.1075358675158E-5	.
18	3263141	G	C	18	3263143	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.1075358675158E-5	.
18	3263141	G	T	18	3263143	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.1075358675158E-5	.
18	3263142	T	A	18	3263144	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.53065248801785E-5	.
18	3263142	T	C	18	3263144	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.53065248801785E-5	.
18	3263142	T	G	18	3263144	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.53065248801785E-5	.
18	3263143	A	C	18	3263145	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.65866619921736E-5	.
18	3263143	A	G	18	3263145	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.65866619921736E-5	.
18	3263143	A	T	18	3263145	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.40102060214916E-5	.
18	3263144	G	A	18	3263146	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.10345003108693E-4	.
18	3263144	G	C	18	3263146	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.54522852870224E-4	.
18	3263144	G	T	18	3263146	n	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.54522852870224E-4	.
18	3272870	T	A	18	3272872	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0259529279124507	0.302
18	3272870	T	C	18	3272872	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.00705566611719E-4	0.012
18	3272870	T	G	18	3272872	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0146476651243826	0.28
18	3272871	T	A	18	3272873	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.108772227179903	0.362
18	3272871	T	C	18	3272873	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.90969493391847E-4	0.052
18	3272871	T	G	18	3272873	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0163174922580745	0.362
18	3272872	T	A	18	3272874	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.197258884220761	0.468
18	3272872	T	C	18	3272874	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.50876335750473E-4	0.012
18	3272872	T	G	18	3272874	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.382826996328231	0.528
18	3272873	T	A	18	3272875	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.19237934559935E-4	0.062
18	3272873	T	C	18	3272875	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.49256273837098E-4	0.002
18	3272873	T	G	18	3272875	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00101981737682965	0.064
18	3272874	T	A	18	3272876	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0022484278377315	0.058
18	3272874	T	C	18	3272876	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.73389613857955E-5	0.0
18	3272874	T	G	18	3272876	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.28468058724772E-4	0.048
18	3272875	A	C	18	3272877	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.81759129864486E-4	0.008
18	3272875	A	G	18	3272877	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.7285181936079E-4	0.002
18	3272875	A	T	18	3272877	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.91221868454173E-4	0.002
18	3272876	A	C	18	3272878	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.66345159548488E-5	0.0
18	3272876	A	G	18	3272878	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.99090149284788	0.952
18	3272876	A	T	18	3272878	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	7.37178109359201E-5	0.022
18	3272877	T	A	18	3272879	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.136369140420756	0.492
18	3272877	T	C	18	3272879	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	9.30192338942462E-5	0.018
18	3272877	T	G	18	3272879	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.999821703159301	0.924
18	3272878	C	A	18	3272880	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.27537449694753E-5	0.004
18	3272878	C	G	18	3272880	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.81080865370235E-5	0.004
18	3272878	C	T	18	3272880	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.35068838309612E-5	0.004
18	3272879	C	A	18	3272881	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.934474243262134	0.6
18	3272879	C	G	18	3272881	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.999316087422623	0.888
18	3272879	C	T	18	3272881	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	5.43594537898107E-4	0.114
18	3272880	A	C	18	3272882	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.999989378869813	0.762
18	3272880	A	G	18	3272882	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.999989378869813	0.76
18	3272880	A	T	18	3272882	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.999989378869813	0.756
18	3272881	G	A	18	3272883	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.999991289042512	0.776
18	3272881	G	C	18	3272883	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.999991289042512	0.776
18	3272881	G	T	18	3272883	y	y	splicing	MYL12B	.	.	splicing	ENSG00000118680	.	.	0.999991289042512	0.776
18	3272882	A	C	18	3272884	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	0.0013106215287319	0.044
18	3272882	A	G	18	3272884	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	7.99892583934737E-5	0.004
18	3272882	A	T	18	3272884	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	2.82513705751757E-4	0.012
18	3272883	A	C	18	3272885	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.80165890922684E-5	0.006
18	3272883	A	G	18	3272885	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	1.85786269741197E-5	0.012
18	3272883	A	T	18	3272885	y	y	UTR5	MYL12B	.	.	UTR5	ENSG00000118680	.	.	2.01858951847765E-5	0.0
18	3273078	T	A	18	3273080	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon2:c.T182A:p.L61Q;MYL12B:NM_001144944:exon2:c.T182A:p.L61Q;MYL12B:NM_001144945:exon2:c.T182A:p.L61Q;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.T182A:p.L61Q;ENSG00000118680:ENST00000400175:exon2:c.T182A:p.L61Q;ENSG00000118680:ENST00000581193:exon2:c.T182A:p.L61Q;ENSG00000118680:ENST00000584539:exon2:c.T182A:p.L61Q;	0.792333996523743	0.762
18	3273078	T	C	18	3273080	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon2:c.T182C:p.L61P;MYL12B:NM_001144944:exon2:c.T182C:p.L61P;MYL12B:NM_001144945:exon2:c.T182C:p.L61P;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.T182C:p.L61P;ENSG00000118680:ENST00000400175:exon2:c.T182C:p.L61P;ENSG00000118680:ENST00000581193:exon2:c.T182C:p.L61P;ENSG00000118680:ENST00000584539:exon2:c.T182C:p.L61P;	0.792333996523743	0.726
18	3273078	T	G	18	3273080	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon2:c.T182G:p.L61R;MYL12B:NM_001144944:exon2:c.T182G:p.L61R;MYL12B:NM_001144945:exon2:c.T182G:p.L61R;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.T182G:p.L61R;ENSG00000118680:ENST00000400175:exon2:c.T182G:p.L61R;ENSG00000118680:ENST00000581193:exon2:c.T182G:p.L61R;ENSG00000118680:ENST00000584539:exon2:c.T182G:p.L61R;	0.826020672716062	0.808
18	3273079	A	C	18	3273081	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon2:c.A183C:p.L61L;MYL12B:NM_001144944:exon2:c.A183C:p.L61L;MYL12B:NM_001144945:exon2:c.A183C:p.L61L;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.A183C:p.L61L;ENSG00000118680:ENST00000400175:exon2:c.A183C:p.L61L;ENSG00000118680:ENST00000581193:exon2:c.A183C:p.L61L;ENSG00000118680:ENST00000584539:exon2:c.A183C:p.L61L;	0.962029669083398	0.762
18	3273079	A	G	18	3273081	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon2:c.A183G:p.L61L;MYL12B:NM_001144944:exon2:c.A183G:p.L61L;MYL12B:NM_001144945:exon2:c.A183G:p.L61L;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.A183G:p.L61L;ENSG00000118680:ENST00000400175:exon2:c.A183G:p.L61L;ENSG00000118680:ENST00000581193:exon2:c.A183G:p.L61L;ENSG00000118680:ENST00000584539:exon2:c.A183G:p.L61L;	0.997410353274022	0.804
18	3273079	A	T	18	3273081	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon2:c.A183T:p.L61L;MYL12B:NM_001144944:exon2:c.A183T:p.L61L;MYL12B:NM_001144945:exon2:c.A183T:p.L61L;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.A183T:p.L61L;ENSG00000118680:ENST00000400175:exon2:c.A183T:p.L61L;ENSG00000118680:ENST00000581193:exon2:c.A183T:p.L61L;ENSG00000118680:ENST00000584539:exon2:c.A183T:p.L61L;	0.99812643691317	0.808
18	3273080	G	A	18	3273082	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon2:c.G184A:p.G62R;MYL12B:NM_001144944:exon2:c.G184A:p.G62R;MYL12B:NM_001144945:exon2:c.G184A:p.G62R;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.G184A:p.G62R;ENSG00000118680:ENST00000400175:exon2:c.G184A:p.G62R;ENSG00000118680:ENST00000581193:exon2:c.G184A:p.G62R;ENSG00000118680:ENST00000584539:exon2:c.G184A:p.G62R;	0.999995260156997	1.0
18	3273080	G	C	18	3273082	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon2:c.G184C:p.G62R;MYL12B:NM_001144944:exon2:c.G184C:p.G62R;MYL12B:NM_001144945:exon2:c.G184C:p.G62R;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.G184C:p.G62R;ENSG00000118680:ENST00000400175:exon2:c.G184C:p.G62R;ENSG00000118680:ENST00000581193:exon2:c.G184C:p.G62R;ENSG00000118680:ENST00000584539:exon2:c.G184C:p.G62R;	0.999995179635683	0.998
18	3273080	G	T	18	3273082	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon2:c.G184T:p.G62W;MYL12B:NM_001144944:exon2:c.G184T:p.G62W;MYL12B:NM_001144945:exon2:c.G184T:p.G62W;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon2:c.G184T:p.G62W;ENSG00000118680:ENST00000400175:exon2:c.G184T:p.G62W;ENSG00000118680:ENST00000581193:exon2:c.G184T:p.G62W;ENSG00000118680:ENST00000584539:exon2:c.G184T:p.G62W;	0.999993616571674	1.0
18	3273081	G	A	18	3273083	y	y	splicing	MYL12B(NM_033546:exon2:c.184+1G>A;NM_001144944:exon2:c.184+1G>A;NM_001144945:exon2:c.184+1G>A)	.	.	splicing	ENSG00000118680(ENST00000237500:exon2:c.184+1G>A;ENST00000581193:exon2:c.184+1G>A;ENST00000400175:exon2:c.184+1G>A;ENST00000584539:exon2:c.184+1G>A)	.	.	0.999989125585301	0.936
18	3273081	G	C	18	3273083	y	y	splicing	MYL12B(NM_033546:exon2:c.184+1G>C;NM_001144944:exon2:c.184+1G>C;NM_001144945:exon2:c.184+1G>C)	.	.	splicing	ENSG00000118680(ENST00000237500:exon2:c.184+1G>C;ENST00000581193:exon2:c.184+1G>C;ENST00000400175:exon2:c.184+1G>C;ENST00000584539:exon2:c.184+1G>C)	.	.	0.999989125585301	0.942
18	3273081	G	T	18	3273083	y	y	splicing	MYL12B(NM_033546:exon2:c.184+1G>T;NM_001144944:exon2:c.184+1G>T;NM_001144945:exon2:c.184+1G>T)	.	.	splicing	ENSG00000118680(ENST00000237500:exon2:c.184+1G>T;ENST00000581193:exon2:c.184+1G>T;ENST00000400175:exon2:c.184+1G>T;ENST00000584539:exon2:c.184+1G>T)	.	.	0.999989125585301	0.942
18	3273082	T	A	18	3273084	y	y	splicing	MYL12B(NM_033546:exon2:c.184+2T>A;NM_001144944:exon2:c.184+2T>A;NM_001144945:exon2:c.184+2T>A)	.	.	splicing	ENSG00000118680(ENST00000237500:exon2:c.184+2T>A;ENST00000581193:exon2:c.184+2T>A;ENST00000400175:exon2:c.184+2T>A;ENST00000584539:exon2:c.184+2T>A)	.	.	0.999976254090479	0.94
18	3273082	T	C	18	3273084	y	y	splicing	MYL12B(NM_033546:exon2:c.184+2T>C;NM_001144944:exon2:c.184+2T>C;NM_001144945:exon2:c.184+2T>C)	.	.	splicing	ENSG00000118680(ENST00000237500:exon2:c.184+2T>C;ENST00000581193:exon2:c.184+2T>C;ENST00000400175:exon2:c.184+2T>C;ENST00000584539:exon2:c.184+2T>C)	.	.	0.989177138134523	0.758
18	3273082	T	G	18	3273084	y	y	splicing	MYL12B(NM_033546:exon2:c.184+2T>G;NM_001144944:exon2:c.184+2T>G;NM_001144945:exon2:c.184+2T>G)	.	.	splicing	ENSG00000118680(ENST00000237500:exon2:c.184+2T>G;ENST00000581193:exon2:c.184+2T>G;ENST00000400175:exon2:c.184+2T>G;ENST00000584539:exon2:c.184+2T>G)	.	.	0.99993872479901	0.938
18	3273083	A	C	18	3273085	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.999952847756463	0.942
18	3273083	A	G	18	3273085	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.999111900082992	0.892
18	3273083	A	T	18	3273085	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.99993254271629	0.95
18	3273084	G	A	18	3273086	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.1767121818983E-4	0.112
18	3273084	G	C	18	3273086	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.00884617941004E-4	0.056
18	3273084	G	T	18	3273086	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.79269155022147E-4	0.086
18	3273085	A	C	18	3273087	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	5.24679840670597E-5	0.028
18	3273085	A	G	18	3273087	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.16449652662978E-4	0.098
18	3273085	A	T	18	3273087	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.19352406677348E-4	0.062
18	3273086	C	A	18	3273088	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	5.02698193381736E-4	0.024
18	3273086	C	G	18	3273088	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.61497761060005E-4	0.084
18	3273086	C	T	18	3273088	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.10407347554216E-4	0.044
18	3273087	T	A	18	3273089	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00143418889595893	0.016
18	3273087	T	C	18	3273089	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00123880643612059	0.012
18	3273087	T	G	18	3273089	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00123880643612059	0.014
18	3273088	T	A	18	3273090	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	7.85150007427804E-5	0.004
18	3273088	T	C	18	3273090	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	5.90890164230793E-5	0.006
18	3273088	T	G	18	3273090	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	5.0145379419804E-5	0.006
18	3277239	G	A	18	3277241	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.0296678410019E-4	0.006
18	3277239	G	C	18	3277241	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.75087700902764E-5	0.0
18	3277239	G	T	18	3277241	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.59742638197881E-5	0.008
18	3277240	T	A	18	3277242	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0104074362138242	0.216
18	3277240	T	C	18	3277242	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.17109293044485E-4	0.086
18	3277240	T	G	18	3277242	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0369980548425973	0.186
18	3277241	A	C	18	3277243	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	9.51979235571596E-5	0.002
18	3277241	A	G	18	3277243	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	7.73001314459776E-5	0.002
18	3277241	A	T	18	3277243	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.00481182073854E-4	0.02
18	3277242	T	A	18	3277244	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00706645923313548	0.222
18	3277242	T	C	18	3277244	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00181950549660451	0.08
18	3277242	T	G	18	3277244	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.9997447401783	0.912
18	3277243	T	A	18	3277245	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.021076049129441	0.244
18	3277243	T	C	18	3277245	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.69106549958113E-4	0.0
18	3277243	T	G	18	3277245	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00269071000304489	0.186
18	3277244	C	A	18	3277246	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00146178722402948	0.056
18	3277244	C	G	18	3277246	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.23911476178021E-4	0.016
18	3277244	C	T	18	3277246	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.18752668754294E-5	0.0
18	3277245	T	A	18	3277247	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00919521409484963	0.186
18	3277245	T	C	18	3277247	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.44484775438424E-5	0.014
18	3277245	T	G	18	3277247	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0662384904744262	0.422
18	3277246	T	A	18	3277248	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.191910204779812	0.262
18	3277246	T	C	18	3277248	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.50702485172542E-4	0.034
18	3277246	T	G	18	3277248	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.149473097455702	0.278
18	3277247	A	C	18	3277249	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	8.38262705362179E-6	0.028
18	3277247	A	G	18	3277249	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.52906696546759E-5	0.11
18	3277247	A	T	18	3277249	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.1754236381591E-5	0.004
18	3277248	C	A	18	3277250	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.929337713783842	0.542
18	3277248	C	G	18	3277250	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.999224513670816	0.816
18	3277248	C	T	18	3277250	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.28007942219063E-4	0.082
18	3277249	A	C	18	3277251	y	y	splicing	MYL12B(NM_033546:exon3:c.185-2A>C;NM_001144944:exon3:c.185-2A>C;NM_001144945:exon3:c.185-2A>C)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.185-2A>C;ENST00000581193:exon3:c.185-2A>C;ENST00000400175:exon3:c.185-2A>C;ENST00000584539:exon3:c.185-2A>C)	.	.	0.999969255906173	0.836
18	3277249	A	G	18	3277251	y	y	splicing	MYL12B(NM_033546:exon3:c.185-2A>G;NM_001144944:exon3:c.185-2A>G;NM_001144945:exon3:c.185-2A>G)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.185-2A>G;ENST00000581193:exon3:c.185-2A>G;ENST00000400175:exon3:c.185-2A>G;ENST00000584539:exon3:c.185-2A>G)	.	.	0.999969255906173	0.842
18	3277249	A	T	18	3277251	y	y	splicing	MYL12B(NM_033546:exon3:c.185-2A>T;NM_001144944:exon3:c.185-2A>T;NM_001144945:exon3:c.185-2A>T)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.185-2A>T;ENST00000581193:exon3:c.185-2A>T;ENST00000400175:exon3:c.185-2A>T;ENST00000584539:exon3:c.185-2A>T)	.	.	0.999972155025474	0.87
18	3277250	G	A	18	3277252	y	y	splicing	MYL12B(NM_033546:exon3:c.185-1G>A;NM_001144944:exon3:c.185-1G>A;NM_001144945:exon3:c.185-1G>A)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.185-1G>A;ENST00000581193:exon3:c.185-1G>A;ENST00000400175:exon3:c.185-1G>A;ENST00000584539:exon3:c.185-1G>A)	.	.	0.999976475802857	0.904
18	3277250	G	C	18	3277252	y	y	splicing	MYL12B(NM_033546:exon3:c.185-1G>C;NM_001144944:exon3:c.185-1G>C;NM_001144945:exon3:c.185-1G>C)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.185-1G>C;ENST00000581193:exon3:c.185-1G>C;ENST00000400175:exon3:c.185-1G>C;ENST00000584539:exon3:c.185-1G>C)	.	.	0.999977162774916	0.868
18	3277250	G	T	18	3277252	y	y	splicing	MYL12B(NM_033546:exon3:c.185-1G>T;NM_001144944:exon3:c.185-1G>T;NM_001144945:exon3:c.185-1G>T)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.185-1G>T;ENST00000581193:exon3:c.185-1G>T;ENST00000400175:exon3:c.185-1G>T;ENST00000584539:exon3:c.185-1G>T)	.	.	0.99997775019564	0.892
18	3277251	G	A	18	3277253	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.G185A:p.G62E;MYL12B:NM_001144944:exon3:c.G185A:p.G62E;MYL12B:NM_001144945:exon3:c.G185A:p.G62E;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G185A:p.G62E;ENSG00000118680:ENST00000400175:exon3:c.G185A:p.G62E;ENSG00000118680:ENST00000581193:exon3:c.G185A:p.G62E;ENSG00000118680:ENST00000584539:exon3:c.G185A:p.G62E;	0.999765422709325	0.896
18	3277251	G	C	18	3277253	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.G185C:p.G62A;MYL12B:NM_001144944:exon3:c.G185C:p.G62A;MYL12B:NM_001144945:exon3:c.G185C:p.G62A;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G185C:p.G62A;ENSG00000118680:ENST00000400175:exon3:c.G185C:p.G62A;ENSG00000118680:ENST00000581193:exon3:c.G185C:p.G62A;ENSG00000118680:ENST00000584539:exon3:c.G185C:p.G62A;	0.999782947218055	0.946
18	3277251	G	T	18	3277253	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.G185T:p.G62V;MYL12B:NM_001144944:exon3:c.G185T:p.G62V;MYL12B:NM_001144945:exon3:c.G185T:p.G62V;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G185T:p.G62V;ENSG00000118680:ENST00000400175:exon3:c.G185T:p.G62V;ENSG00000118680:ENST00000581193:exon3:c.G185T:p.G62V;ENSG00000118680:ENST00000584539:exon3:c.G185T:p.G62V;	0.999884402549557	0.974
18	3277252	G	A	18	3277254	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon3:c.G186A:p.G62G;MYL12B:NM_001144944:exon3:c.G186A:p.G62G;MYL12B:NM_001144945:exon3:c.G186A:p.G62G;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G186A:p.G62G;ENSG00000118680:ENST00000400175:exon3:c.G186A:p.G62G;ENSG00000118680:ENST00000581193:exon3:c.G186A:p.G62G;ENSG00000118680:ENST00000584539:exon3:c.G186A:p.G62G;	0.00430975511354747	0.102
18	3277252	G	C	18	3277254	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon3:c.G186C:p.G62G;MYL12B:NM_001144944:exon3:c.G186C:p.G62G;MYL12B:NM_001144945:exon3:c.G186C:p.G62G;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G186C:p.G62G;ENSG00000118680:ENST00000400175:exon3:c.G186C:p.G62G;ENSG00000118680:ENST00000581193:exon3:c.G186C:p.G62G;ENSG00000118680:ENST00000584539:exon3:c.G186C:p.G62G;	0.00128026209594468	0.08
18	3277252	G	T	18	3277254	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon3:c.G186T:p.G62G;MYL12B:NM_001144944:exon3:c.G186T:p.G62G;MYL12B:NM_001144945:exon3:c.G186T:p.G62G;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G186T:p.G62G;ENSG00000118680:ENST00000400175:exon3:c.G186T:p.G62G;ENSG00000118680:ENST00000581193:exon3:c.G186T:p.G62G;ENSG00000118680:ENST00000584539:exon3:c.G186T:p.G62G;	0.00278881538416786	0.068
18	3277410	C	A	18	3277412	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.C344A:p.T115K;MYL12B:NM_001144944:exon3:c.C344A:p.T115K;MYL12B:NM_001144945:exon3:c.C344A:p.T115K;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.C344A:p.T115K;ENSG00000118680:ENST00000400175:exon3:c.C344A:p.T115K;ENSG00000118680:ENST00000581193:exon3:c.C344A:p.T115K;ENSG00000118680:ENST00000584539:exon3:c.C344A:p.T115K;	0.00584906038825896	0.128
18	3277410	C	G	18	3277412	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.C344G:p.T115R;MYL12B:NM_001144944:exon3:c.C344G:p.T115R;MYL12B:NM_001144945:exon3:c.C344G:p.T115R;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.C344G:p.T115R;ENSG00000118680:ENST00000400175:exon3:c.C344G:p.T115R;ENSG00000118680:ENST00000581193:exon3:c.C344G:p.T115R;ENSG00000118680:ENST00000584539:exon3:c.C344G:p.T115R;	0.92855968467405	0.558
18	3277410	C	T	18	3277412	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.C344T:p.T115I;MYL12B:NM_001144944:exon3:c.C344T:p.T115I;MYL12B:NM_001144945:exon3:c.C344T:p.T115I;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.C344T:p.T115I;ENSG00000118680:ENST00000400175:exon3:c.C344T:p.T115I;ENSG00000118680:ENST00000581193:exon3:c.C344T:p.T115I;ENSG00000118680:ENST00000584539:exon3:c.C344T:p.T115I;	0.998660270316167	0.686
18	3277411	A	C	18	3277413	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon3:c.A345C:p.T115T;MYL12B:NM_001144944:exon3:c.A345C:p.T115T;MYL12B:NM_001144945:exon3:c.A345C:p.T115T;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.A345C:p.T115T;ENSG00000118680:ENST00000400175:exon3:c.A345C:p.T115T;ENSG00000118680:ENST00000581193:exon3:c.A345C:p.T115T;ENSG00000118680:ENST00000584539:exon3:c.A345C:p.T115T;	0.0459947163258612	0.414
18	3277411	A	G	18	3277413	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon3:c.A345G:p.T115T;MYL12B:NM_001144944:exon3:c.A345G:p.T115T;MYL12B:NM_001144945:exon3:c.A345G:p.T115T;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.A345G:p.T115T;ENSG00000118680:ENST00000400175:exon3:c.A345G:p.T115T;ENSG00000118680:ENST00000581193:exon3:c.A345G:p.T115T;ENSG00000118680:ENST00000584539:exon3:c.A345G:p.T115T;	0.0417649631571892	0.246
18	3277411	A	T	18	3277413	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon3:c.A345T:p.T115T;MYL12B:NM_001144944:exon3:c.A345T:p.T115T;MYL12B:NM_001144945:exon3:c.A345T:p.T115T;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.A345T:p.T115T;ENSG00000118680:ENST00000400175:exon3:c.A345T:p.T115T;ENSG00000118680:ENST00000581193:exon3:c.A345T:p.T115T;ENSG00000118680:ENST00000584539:exon3:c.A345T:p.T115T;	0.0726810020502364	0.478
18	3277412	G	A	18	3277414	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.G346A:p.G116S;MYL12B:NM_001144944:exon3:c.G346A:p.G116S;MYL12B:NM_001144945:exon3:c.G346A:p.G116S;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G346A:p.G116S;ENSG00000118680:ENST00000400175:exon3:c.G346A:p.G116S;ENSG00000118680:ENST00000581193:exon3:c.G346A:p.G116S;ENSG00000118680:ENST00000584539:exon3:c.G346A:p.G116S;	0.999755427730273	0.9
18	3277412	G	C	18	3277414	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.G346C:p.G116R;MYL12B:NM_001144944:exon3:c.G346C:p.G116R;MYL12B:NM_001144945:exon3:c.G346C:p.G116R;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G346C:p.G116R;ENSG00000118680:ENST00000400175:exon3:c.G346C:p.G116R;ENSG00000118680:ENST00000581193:exon3:c.G346C:p.G116R;ENSG00000118680:ENST00000584539:exon3:c.G346C:p.G116R;	0.999926125547117	0.89
18	3277412	G	T	18	3277414	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon3:c.G346T:p.G116C;MYL12B:NM_001144944:exon3:c.G346T:p.G116C;MYL12B:NM_001144945:exon3:c.G346T:p.G116C;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon3:c.G346T:p.G116C;ENSG00000118680:ENST00000400175:exon3:c.G346T:p.G116C;ENSG00000118680:ENST00000581193:exon3:c.G346T:p.G116C;ENSG00000118680:ENST00000584539:exon3:c.G346T:p.G116C;	0.999928074222682	0.854
18	3277413	G	A	18	3277415	y	y	splicing	MYL12B(NM_033546:exon3:c.346+1G>A;NM_001144944:exon3:c.346+1G>A;NM_001144945:exon3:c.346+1G>A)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.346+1G>A;ENST00000581193:exon3:c.346+1G>A;ENST00000400175:exon3:c.346+1G>A;ENST00000584539:exon3:c.346+1G>A)	.	.	0.999976475802857	0.908
18	3277413	G	C	18	3277415	y	y	splicing	MYL12B(NM_033546:exon3:c.346+1G>C;NM_001144944:exon3:c.346+1G>C;NM_001144945:exon3:c.346+1G>C)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.346+1G>C;ENST00000581193:exon3:c.346+1G>C;ENST00000400175:exon3:c.346+1G>C;ENST00000584539:exon3:c.346+1G>C)	.	.	0.999976475802857	0.906
18	3277413	G	T	18	3277415	y	y	splicing	MYL12B(NM_033546:exon3:c.346+1G>T;NM_001144944:exon3:c.346+1G>T;NM_001144945:exon3:c.346+1G>T)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.346+1G>T;ENST00000581193:exon3:c.346+1G>T;ENST00000400175:exon3:c.346+1G>T;ENST00000584539:exon3:c.346+1G>T)	.	.	0.999976475802857	0.908
18	3277414	T	A	18	3277416	y	y	splicing	MYL12B(NM_033546:exon3:c.346+2T>A;NM_001144944:exon3:c.346+2T>A;NM_001144945:exon3:c.346+2T>A)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.346+2T>A;ENST00000581193:exon3:c.346+2T>A;ENST00000400175:exon3:c.346+2T>A;ENST00000584539:exon3:c.346+2T>A)	.	.	0.999971317418422	0.894
18	3277414	T	C	18	3277416	y	y	splicing	MYL12B(NM_033546:exon3:c.346+2T>C;NM_001144944:exon3:c.346+2T>C;NM_001144945:exon3:c.346+2T>C)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.346+2T>C;ENST00000581193:exon3:c.346+2T>C;ENST00000400175:exon3:c.346+2T>C;ENST00000584539:exon3:c.346+2T>C)	.	.	0.999828935571612	0.82
18	3277414	T	G	18	3277416	y	y	splicing	MYL12B(NM_033546:exon3:c.346+2T>G;NM_001144944:exon3:c.346+2T>G;NM_001144945:exon3:c.346+2T>G)	.	.	splicing	ENSG00000118680(ENST00000237500:exon3:c.346+2T>G;ENST00000581193:exon3:c.346+2T>G;ENST00000400175:exon3:c.346+2T>G;ENST00000584539:exon3:c.346+2T>G)	.	.	0.999972155025474	0.87
18	3277415	G	A	18	3277417	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	5.90998303420855E-5	0.0
18	3277415	G	C	18	3277417	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00318744640194434	0.256
18	3277415	G	T	18	3277417	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00396887537648704	0.276
18	3277416	A	C	18	3277418	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0299212898149279	0.26
18	3277416	A	G	18	3277418	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.345447728101084	0.406
18	3277416	A	T	18	3277418	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.30931465355714	0.42
18	3277417	G	A	18	3277419	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.984082250653521	0.764
18	3277417	G	C	18	3277419	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.952383739928582	0.688
18	3277417	G	T	18	3277419	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.99189239626513	0.732
18	3277418	T	A	18	3277420	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00500895622612067	0.21
18	3277418	T	C	18	3277420	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00381874376688769	0.248
18	3277418	T	G	18	3277420	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.77594548437898E-4	0.126
18	3277419	G	A	18	3277421	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	5.69439264402225E-5	0.0
18	3277419	G	C	18	3277421	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.30477579161392E-5	0.0
18	3277419	G	T	18	3277421	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.52297880296295E-5	0.0
18	3277420	C	A	18	3277422	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.76136073553245E-4	0.018
18	3277420	C	G	18	3277422	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.70725990022885E-4	0.016
18	3277420	C	T	18	3277422	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.884907425559E-4	0.012
18	3277751	A	C	18	3277753	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.73824061787776E-6	0.002
18	3277751	A	G	18	3277753	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.70024072445558E-5	0.01
18	3277751	A	T	18	3277753	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.45498086815607E-5	0.0
18	3277752	T	A	18	3277754	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.114701231025968	0.384
18	3277752	T	C	18	3277754	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00100257122942333	0.058
18	3277752	T	G	18	3277754	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.999544266966177	0.952
18	3277753	T	A	18	3277755	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.999066333299638	0.972
18	3277753	T	C	18	3277755	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.19374142054642E-4	0.008
18	3277753	T	G	18	3277755	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0722535507643544	0.378
18	3277754	G	A	18	3277756	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.26676926139905E-4	0.006
18	3277754	G	C	18	3277756	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.18932418783883E-5	0.004
18	3277754	G	T	18	3277756	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	4.82731841860504E-5	0.002
18	3277755	T	A	18	3277757	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00380128963394706	0.048
18	3277755	T	C	18	3277757	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.57873093930902E-6	0.0
18	3277755	T	G	18	3277757	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00284036019815072	0.08
18	3277756	C	A	18	3277758	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.28754221138352E-4	0.042
18	3277756	C	G	18	3277758	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.92648589165633E-4	0.02
18	3277756	C	T	18	3277758	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	1.17054741034844E-5	0.0
18	3277757	T	A	18	3277759	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00852372634387598	0.106
18	3277757	T	C	18	3277759	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.9974402614169E-5	0.0
18	3277757	T	G	18	3277759	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0491974553891503	0.194
18	3277758	T	A	18	3277760	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.0619126370023924	0.366
18	3277758	T	C	18	3277760	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	9.01599378621267E-5	0.002
18	3277758	T	G	18	3277760	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.212619724317122	0.372
18	3277759	C	A	18	3277761	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	2.695680502612E-5	0.0
18	3277759	C	G	18	3277761	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	6.81882192496495E-5	0.002
18	3277759	C	T	18	3277761	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	3.67967725294999E-5	0.004
18	3277760	C	A	18	3277762	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.236929368844386	0.414
18	3277760	C	G	18	3277762	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.978710160782126	0.83
18	3277760	C	T	18	3277762	y	y	intronic	MYL12B	.	.	intronic	ENSG00000118680	.	.	0.00725890118724148	0.148
18	3277761	A	C	18	3277763	y	y	splicing	MYL12B(NM_033546:exon4:c.347-2A>C;NM_001144944:exon4:c.347-2A>C;NM_001144945:exon4:c.347-2A>C)	.	.	splicing	ENSG00000118680(ENST00000237500:exon4:c.347-2A>C;ENST00000581193:exon4:c.347-2A>C;ENST00000400175:exon4:c.347-2A>C;ENST00000584539:exon4:c.347-2A>C)	.	.	0.999969255906173	0.844
18	3277761	A	G	18	3277763	y	y	splicing	MYL12B(NM_033546:exon4:c.347-2A>G;NM_001144944:exon4:c.347-2A>G;NM_001144945:exon4:c.347-2A>G)	.	.	splicing	ENSG00000118680(ENST00000237500:exon4:c.347-2A>G;ENST00000581193:exon4:c.347-2A>G;ENST00000400175:exon4:c.347-2A>G;ENST00000584539:exon4:c.347-2A>G)	.	.	0.999969255906173	0.844
18	3277761	A	T	18	3277763	y	y	splicing	MYL12B(NM_033546:exon4:c.347-2A>T;NM_001144944:exon4:c.347-2A>T;NM_001144945:exon4:c.347-2A>T)	.	.	splicing	ENSG00000118680(ENST00000237500:exon4:c.347-2A>T;ENST00000581193:exon4:c.347-2A>T;ENST00000400175:exon4:c.347-2A>T;ENST00000584539:exon4:c.347-2A>T)	.	.	0.999969255906173	0.848
18	3277762	G	A	18	3277764	y	y	splicing	MYL12B(NM_033546:exon4:c.347-1G>A;NM_001144944:exon4:c.347-1G>A;NM_001144945:exon4:c.347-1G>A)	.	.	splicing	ENSG00000118680(ENST00000237500:exon4:c.347-1G>A;ENST00000581193:exon4:c.347-1G>A;ENST00000400175:exon4:c.347-1G>A;ENST00000584539:exon4:c.347-1G>A)	.	.	0.999966603939759	0.898
18	3277762	G	C	18	3277764	y	y	splicing	MYL12B(NM_033546:exon4:c.347-1G>C;NM_001144944:exon4:c.347-1G>C;NM_001144945:exon4:c.347-1G>C)	.	.	splicing	ENSG00000118680(ENST00000237500:exon4:c.347-1G>C;ENST00000581193:exon4:c.347-1G>C;ENST00000400175:exon4:c.347-1G>C;ENST00000584539:exon4:c.347-1G>C)	.	.	0.999962153403958	0.884
18	3277762	G	T	18	3277764	y	y	splicing	MYL12B(NM_033546:exon4:c.347-1G>T;NM_001144944:exon4:c.347-1G>T;NM_001144945:exon4:c.347-1G>T)	.	.	splicing	ENSG00000118680(ENST00000237500:exon4:c.347-1G>T;ENST00000581193:exon4:c.347-1G>T;ENST00000400175:exon4:c.347-1G>T;ENST00000584539:exon4:c.347-1G>T)	.	.	0.999965722254998	0.872
18	3277763	G	A	18	3277765	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon4:c.G347A:p.G116D;MYL12B:NM_001144944:exon4:c.G347A:p.G116D;MYL12B:NM_001144945:exon4:c.G347A:p.G116D;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon4:c.G347A:p.G116D;ENSG00000118680:ENST00000400175:exon4:c.G347A:p.G116D;ENSG00000118680:ENST00000581193:exon4:c.G347A:p.G116D;ENSG00000118680:ENST00000584539:exon4:c.G347A:p.G116D;	0.997927976290057	0.79
18	3277763	G	C	18	3277765	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon4:c.G347C:p.G116A;MYL12B:NM_001144944:exon4:c.G347C:p.G116A;MYL12B:NM_001144945:exon4:c.G347C:p.G116A;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon4:c.G347C:p.G116A;ENSG00000118680:ENST00000400175:exon4:c.G347C:p.G116A;ENSG00000118680:ENST00000581193:exon4:c.G347C:p.G116A;ENSG00000118680:ENST00000584539:exon4:c.G347C:p.G116A;	0.999839148624325	0.898
18	3277763	G	T	18	3277765	y	y	exonic	MYL12B	nonsynonymous SNV	MYL12B:NM_033546:exon4:c.G347T:p.G116V;MYL12B:NM_001144944:exon4:c.G347T:p.G116V;MYL12B:NM_001144945:exon4:c.G347T:p.G116V;	exonic	ENSG00000118680	nonsynonymous SNV	ENSG00000118680:ENST00000237500:exon4:c.G347T:p.G116V;ENSG00000118680:ENST00000400175:exon4:c.G347T:p.G116V;ENSG00000118680:ENST00000581193:exon4:c.G347T:p.G116V;ENSG00000118680:ENST00000584539:exon4:c.G347T:p.G116V;	0.999247727494057	0.912
18	3277764	C	A	18	3277766	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon4:c.C348A:p.G116G;MYL12B:NM_001144944:exon4:c.C348A:p.G116G;MYL12B:NM_001144945:exon4:c.C348A:p.G116G;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon4:c.C348A:p.G116G;ENSG00000118680:ENST00000400175:exon4:c.C348A:p.G116G;ENSG00000118680:ENST00000581193:exon4:c.C348A:p.G116G;ENSG00000118680:ENST00000584539:exon4:c.C348A:p.G116G;	6.3575961820797E-5	0.0
18	3277764	C	G	18	3277766	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon4:c.C348G:p.G116G;MYL12B:NM_001144944:exon4:c.C348G:p.G116G;MYL12B:NM_001144945:exon4:c.C348G:p.G116G;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon4:c.C348G:p.G116G;ENSG00000118680:ENST00000400175:exon4:c.C348G:p.G116G;ENSG00000118680:ENST00000581193:exon4:c.C348G:p.G116G;ENSG00000118680:ENST00000584539:exon4:c.C348G:p.G116G;	4.23775211729112E-5	0.014
18	3277764	C	T	18	3277766	y	y	exonic	MYL12B	synonymous SNV	MYL12B:NM_033546:exon4:c.C348T:p.G116G;MYL12B:NM_001144944:exon4:c.C348T:p.G116G;MYL12B:NM_001144945:exon4:c.C348T:p.G116G;	exonic	ENSG00000118680	synonymous SNV	ENSG00000118680:ENST00000237500:exon4:c.C348T:p.G116G;ENSG00000118680:ENST00000400175:exon4:c.C348T:p.G116G;ENSG00000118680:ENST00000581193:exon4:c.C348T:p.G116G;ENSG00000118680:ENST00000584539:exon4:c.C348T:p.G116G;	2.45636560876339E-5	0.0
18	3412250	C	A	18	3412252	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.4243997895107E-5	0.006
18	3412250	C	G	18	3412252	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.40316979844049E-5	0.006
18	3412250	C	T	18	3412252	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.4243997895107E-5	0.014
18	3412251	A	C	18	3412253	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.42544334184685E-5	0.01
18	3412251	A	G	18	3412253	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.42544334184685E-5	0.01
18	3412251	A	T	18	3412253	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.42544334184685E-5	0.018
18	3412252	G	A	18	3412254	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.63360899965148E-5	0.0
18	3412252	G	C	18	3412254	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.52173701430229E-5	0.006
18	3412252	G	T	18	3412254	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.63360899965148E-5	0.0
18	3412253	G	A	18	3412255	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.60081151915995E-4	0.052
18	3412253	G	C	18	3412255	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.81456590373184E-4	0.048
18	3412253	G	T	18	3412255	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.81456590373184E-4	0.098
18	3412254	T	A	18	3412256	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.07620641825897E-5	0.0
18	3412254	T	C	18	3412256	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.07620641825897E-5	0.0
18	3412254	T	G	18	3412256	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.07620641825897E-5	0.0
18	3412255	A	C	18	3412257	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.32880881212684E-4	0.026
18	3412255	A	G	18	3412257	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.32880881212684E-4	0.026
18	3412255	A	T	18	3412257	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.32880881212684E-4	0.026
18	3412256	A	C	18	3412258	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.62829891511816E-5	0.01
18	3412256	A	G	18	3412258	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.62829891511816E-5	0.01
18	3412256	A	T	18	3412258	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.62829891511816E-5	0.016
18	3412257	G	A	18	3412259	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.45141625978766E-4	0.092
18	3412257	G	C	18	3412259	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.45141625978766E-4	0.07
18	3412257	G	T	18	3412259	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.45141625978766E-4	0.072
18	3412258	T	A	18	3412260	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.73097250349407E-4	0.03
18	3412258	T	C	18	3412260	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.50269875387777E-4	0.034
18	3412258	T	G	18	3412260	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.50269875387777E-4	0.036
18	3412259	C	A	18	3412261	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.67846572414885E-5	0.286
18	3412259	C	G	18	3412261	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.67846572414885E-5	0.136
18	3412259	C	T	18	3412261	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.48997428884123E-5	0.062
18	3412260	C	A	18	3412262	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.24176525473825E-5	0.118
18	3412260	C	G	18	3412262	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.67846572414885E-5	0.136
18	3412260	C	T	18	3412262	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.97036470738134E-4	0.02
18	3413045	C	A	18	3413047	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.41069364790736E-5	0.018
18	3413045	C	G	18	3413047	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.41069364790736E-5	0.006
18	3413045	C	T	18	3413047	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.80274866394675E-5	0.0
18	3413046	A	C	18	3413048	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.55806431362126E-5	0.002
18	3413046	A	G	18	3413048	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.55806431362126E-5	0.002
18	3413046	A	T	18	3413048	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.68118717259837E-5	0.0
18	3413047	G	A	18	3413049	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.41069364790736E-5	0.028
18	3413047	G	C	18	3413049	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.41069364790736E-5	0.006
18	3413047	G	T	18	3413049	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.41069364790736E-5	0.008
18	3413048	G	A	18	3413050	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.47959532904733E-5	0.012
18	3413048	G	C	18	3413050	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.80913962938971E-5	0.012
18	3413048	G	T	18	3413050	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.47959532904733E-5	0.012
18	3413049	T	A	18	3413051	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.54291542054858E-4	0.004
18	3413049	T	C	18	3413051	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.54291542054858E-4	0.01
18	3413049	T	G	18	3413051	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.54291542054858E-4	0.01
18	3413050	A	C	18	3413052	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.20590404879984E-5	0.004
18	3413050	A	G	18	3413052	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.20590404879984E-5	0.004
18	3413050	A	T	18	3413052	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.20590404879984E-5	0.004
18	3413051	T	A	18	3413053	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.53814986019981E-5	0.0
18	3413051	T	C	18	3413053	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.53814986019981E-5	0.01
18	3413051	T	G	18	3413053	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.53814986019981E-5	0.008
18	3413052	G	A	18	3413054	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.29000382898679E-4	0.004
18	3413052	G	C	18	3413054	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.73593648605392E-4	0.092
18	3413052	G	T	18	3413054	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.29000382898679E-4	0.014
18	3413053	A	C	18	3413055	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.54291542054858E-4	0.004
18	3413053	A	G	18	3413055	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.54291542054858E-4	0.004
18	3413053	A	T	18	3413055	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.54291542054858E-4	0.002
18	3413054	G	A	18	3413056	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.1738525533333E-5	0.0
18	3413054	G	C	18	3413056	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.08788427788342E-5	0.0
18	3413054	G	T	18	3413056	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.08788427788342E-5	0.0
18	3413055	A	C	18	3413057	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.54291542054858E-4	0.004
18	3413055	A	G	18	3413057	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.54291542054858E-4	0.004
18	3413055	A	T	18	3413057	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.54291542054858E-4	0.002
18	3418129	G	A	18	3418131	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.04243866858565E-5	0.004
18	3418129	G	C	18	3418131	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.61707993540616E-5	0.0
18	3418129	G	T	18	3418131	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.61707993540616E-5	0.0
18	3418130	C	A	18	3418132	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.29172098833992E-5	0.004
18	3418130	C	G	18	3418132	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.13105871323179E-5	0.004
18	3418130	C	T	18	3418132	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.29172098833992E-5	0.004
18	3418131	T	A	18	3418133	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.49403053016175E-5	0.004
18	3418131	T	C	18	3418133	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.06651109346937E-5	0.004
18	3418131	T	G	18	3418133	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.06651109346937E-5	0.004
18	3418132	G	A	18	3418134	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.22319008290309E-5	0.0
18	3418132	G	C	18	3418134	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.22319008290309E-5	0.0
18	3418132	G	T	18	3418134	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.22319008290309E-5	0.0
18	3418133	T	A	18	3418135	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.90457231521222E-6	0.006
18	3418133	T	C	18	3418135	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.90457231521222E-6	0.004
18	3418133	T	G	18	3418135	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.90457231521222E-6	0.004
18	3418134	T	A	18	3418136	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.098
18	3418134	T	C	18	3418136	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.068
18	3418134	T	G	18	3418136	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.072
18	3418135	A	C	18	3418137	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.38183787611534E-5	0.004
18	3418135	A	G	18	3418137	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.38183787611534E-5	0.002
18	3418135	A	T	18	3418137	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.65361214020652E-5	0.008
18	3418136	T	A	18	3418138	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.09
18	3418136	T	C	18	3418138	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.058
18	3418136	T	G	18	3418138	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.064
18	3418137	C	A	18	3418139	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.86431456331734E-5	0.002
18	3418137	C	G	18	3418139	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.20695034961553E-5	0.008
18	3418137	C	T	18	3418139	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.86431456331734E-5	0.0
18	3418138	T	A	18	3418140	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.098
18	3418138	T	C	18	3418140	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.058
18	3418138	T	G	18	3418140	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.77346097862455E-4	0.068
18	3418139	A	C	18	3418141	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.07620641825897E-5	0.0
18	3418139	A	G	18	3418141	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.07620641825897E-5	0.0
18	3418139	A	T	18	3418141	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.31929338280547E-5	0.0
18	3418140	G	A	18	3418142	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.52159304237333E-5	0.012
18	3418140	G	C	18	3418142	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.72365104571721E-5	0.004
18	3418140	G	T	18	3418142	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.72365104571721E-5	0.008
18	3418141	G	A	18	3418143	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.09450276291873E-4	0.002
18	3418141	G	C	18	3418143	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.80065584082632E-4	0.08
18	3418141	G	T	18	3418143	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.09450276291873E-4	0.026
18	3418142	T	A	18	3418144	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.39765988491657E-5	0.01
18	3418142	T	C	18	3418144	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.39765988491657E-5	0.006
18	3418142	T	G	18	3418144	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.39765988491657E-5	0.006
18	3418211	A	C	18	3418213	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.65361214020652E-5	0.008
18	3418211	A	G	18	3418213	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.65361214020652E-5	0.006
18	3418211	A	T	18	3418213	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.22788067510469E-5	0.0
18	3418212	A	C	18	3418214	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.78205327723092E-5	0.008
18	3418212	A	G	18	3418214	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.78205327723092E-5	0.004
18	3418212	A	T	18	3418214	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.78205327723092E-5	0.004
18	3418213	G	A	18	3418215	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.71811775086873E-5	0.008
18	3418213	G	C	18	3418215	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.71811775086873E-5	0.002
18	3418213	G	T	18	3418215	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.71811775086873E-5	0.002
18	3418214	G	A	18	3418216	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	2.68219155180855E-5	0.002
18	3418214	G	C	18	3418216	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	2.68219155180855E-5	0.002
18	3418214	G	T	18	3418216	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	2.68219155180855E-5	0.002
18	3418215	T	A	18	3418217	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.31929338280547E-5	0.006
18	3418215	T	C	18	3418217	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.07620641825897E-5	0.002
18	3418215	T	G	18	3418217	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.07620641825897E-5	0.002
18	3418216	A	C	18	3418218	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.65361214020652E-5	0.008
18	3418216	A	G	18	3418218	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.65361214020652E-5	0.006
18	3418216	A	T	18	3418218	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.65361214020652E-5	0.006
18	3418217	A	C	18	3418219	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.14301101535901E-5	0.004
18	3418217	A	G	18	3418219	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.14301101535901E-5	0.006
18	3418217	A	T	18	3418219	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.14301101535901E-5	0.002
18	3418218	G	A	18	3418220	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.69692329001126E-5	0.002
18	3418218	G	C	18	3418220	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.49941418127434E-5	0.0
18	3418218	G	T	18	3418220	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.49941418127434E-5	0.0
18	3418219	T	A	18	3418221	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.57607375837078E-5	0.038
18	3418219	T	C	18	3418221	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.57607375837078E-5	0.01
18	3418219	T	G	18	3418221	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.57607375837078E-5	0.01
18	3418220	A	C	18	3418222	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.32626888200385E-4	0.008
18	3418220	A	G	18	3418222	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.32626888200385E-4	0.008
18	3418220	A	T	18	3418222	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.41036740142694E-4	0.006
18	3418221	G	A	18	3418223	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.01163773767764E-5	0.0
18	3418221	G	C	18	3418223	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.86431456331734E-5	0.0
18	3418221	G	T	18	3418223	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.01163773767764E-5	0.0
18	3447793	A	C	18	3447795	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173207:exon1:c.A56C:p.Q19P;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.A56C:p.Q19P;	1.71941710566322E-4	0.02
18	3447793	A	G	18	3447795	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173207:exon1:c.A56G:p.Q19R;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.A56G:p.Q19R;	9.36365742531413E-5	0.012
18	3447793	A	T	18	3447795	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173207:exon1:c.A56T:p.Q19L;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.A56T:p.Q19L;	8.75207953111884E-5	0.006
18	3447794	A	C	18	3447796	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173207:exon1:c.A57C:p.Q19H;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.A57C:p.Q19H;	1.95287838322816E-4	0.018
18	3447794	A	G	18	3447796	y	y	exonic	TGIF1	synonymous SNV	TGIF1:NM_173207:exon1:c.A57G:p.Q19Q;	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.A57G:p.Q19Q;	1.09202050356324E-4	0.004
18	3447794	A	T	18	3447796	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173207:exon1:c.A57T:p.Q19H;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.A57T:p.Q19H;	1.76646342222634E-4	0.022
18	3447795	G	A	18	3447797	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173207:exon1:c.G58A:p.G20S;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.G58A:p.G20S;	9.34691366058294E-5	0.05
18	3447795	G	C	18	3447797	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173207:exon1:c.G58C:p.G20R;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.G58C:p.G20R;	2.79728974283778E-5	0.104
18	3447795	G	T	18	3447797	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173207:exon1:c.G58T:p.G20C;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000548489:exon1:c.G58T:p.G20C;	4.35480018914068E-5	0.016
18	3447796	G	A	18	3447798	y	y	splicing	TGIF1(NM_173207:exon1:c.58+1G>A)	.	.	splicing	ENSG00000177426(ENST00000548489:exon1:c.58+1G>A)	.	.	0.00123429507716419	0.01
18	3447796	G	C	18	3447798	y	y	splicing	TGIF1(NM_173207:exon1:c.58+1G>C)	.	.	splicing	ENSG00000177426(ENST00000548489:exon1:c.58+1G>C)	.	.	7.0318990376344E-4	0.008
18	3447796	G	T	18	3447798	y	y	splicing	TGIF1(NM_173207:exon1:c.58+1G>T)	.	.	splicing	ENSG00000177426(ENST00000548489:exon1:c.58+1G>T)	.	.	9.16967232112988E-4	0.014
18	3447797	T	A	18	3447799	y	y	splicing	TGIF1(NM_173207:exon1:c.58+2T>A)	.	.	splicing	ENSG00000177426(ENST00000548489:exon1:c.58+2T>A)	.	.	1.24297241394797E-4	0.004
18	3447797	T	C	18	3447799	y	y	splicing	TGIF1(NM_173207:exon1:c.58+2T>C)	.	.	splicing	ENSG00000177426(ENST00000548489:exon1:c.58+2T>C)	.	.	6.83891202920338E-5	0.004
18	3447797	T	G	18	3447799	y	y	splicing	TGIF1(NM_173207:exon1:c.58+2T>G)	.	.	splicing	ENSG00000177426(ENST00000548489:exon1:c.58+2T>G)	.	.	6.83891202920338E-5	0.004
18	3447798	G	A	18	3447800	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.54135289458511E-4	0.04
18	3447798	G	C	18	3447800	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.0741602852464E-4	0.048
18	3447798	G	T	18	3447800	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.9389375309937E-4	0.052
18	3447799	A	C	18	3447801	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.80847989491769E-5	0.004
18	3447799	A	G	18	3447801	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.15491745167462E-5	0.004
18	3447799	A	T	18	3447801	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.2709332397549E-4	0.004
18	3447800	G	A	18	3447802	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.06021162418853E-4	0.004
18	3447800	G	C	18	3447802	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.11159464097565E-5	0.004
18	3447800	G	T	18	3447802	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.11159464097565E-5	0.004
18	3447801	T	A	18	3447803	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.09184747739173E-5	0.004
18	3447801	T	C	18	3447803	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.09184747739173E-5	0.004
18	3447801	T	G	18	3447803	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.09184747739173E-5	0.004
18	3447802	T	A	18	3447804	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00223172515695393	0.024
18	3447802	T	C	18	3447804	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00127198210562724	0.004
18	3447802	T	G	18	3447804	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00127198210562724	0.004
18	3447803	C	A	18	3447805	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.69439264402225E-5	0.002
18	3447803	C	G	18	3447805	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.69439264402225E-5	0.002
18	3447803	C	T	18	3447805	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.69439264402225E-5	0.002
18	3448593	A	C	18	3448595	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.21585938585243E-5	0.0
18	3448593	A	G	18	3448595	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.21585938585243E-5	0.0
18	3448593	A	T	18	3448595	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.21585938585243E-5	0.0
18	3448594	A	C	18	3448596	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.47791851542595E-4	0.014
18	3448594	A	G	18	3448596	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.47791851542595E-4	0.014
18	3448594	A	T	18	3448596	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00110917905343252	0.016
18	3448595	G	A	18	3448597	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.88530522465361E-4	0.0
18	3448595	G	C	18	3448597	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.88530522465361E-4	0.0
18	3448595	G	T	18	3448597	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.88530522465361E-4	0.0
18	3448596	G	A	18	3448598	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.52932449848953E-5	0.01
18	3448596	G	C	18	3448598	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.52932449848953E-5	0.006
18	3448596	G	T	18	3448598	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.52932449848953E-5	0.006
18	3448597	T	A	18	3448599	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	7.47791851542595E-4	0.018
18	3448597	T	C	18	3448599	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.42752065703449E-4	0.02
18	3448597	T	G	18	3448599	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.42752065703449E-4	0.02
18	3448598	T	A	18	3448600	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.42005417025298E-5	0.002
18	3448598	T	C	18	3448600	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.35379928190213E-5	0.0
18	3448598	T	G	18	3448600	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.35379928190213E-5	0.0
18	3448599	G	A	18	3448601	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.21619245134896E-5	0.002
18	3448599	G	C	18	3448601	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.21619245134896E-5	0.004
18	3448599	G	T	18	3448601	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.21619245134896E-5	0.002
18	3448600	C	A	18	3448602	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.9732471689595E-5	0.006
18	3448600	C	G	18	3448602	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.9732471689595E-5	0.008
18	3448600	C	T	18	3448602	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.9732471689595E-5	0.006
18	3448601	T	A	18	3448603	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.14850402615726E-5	0.0
18	3448601	T	C	18	3448603	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.39620844240244E-5	0.002
18	3448601	T	G	18	3448603	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.39620844240244E-5	0.002
18	3448602	G	A	18	3448604	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.23670744562471E-4	0.0
18	3448602	G	C	18	3448604	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.74480241737554E-4	0.0
18	3448602	G	T	18	3448604	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.74480241737554E-4	0.0
18	3448603	C	A	18	3448605	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00115354322943996	0.04
18	3448603	C	G	18	3448605	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00206737104554418	0.04
18	3448603	C	T	18	3448605	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00213809788668997	0.04
18	3449652	G	A	18	3449654	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon1:c.G23A:p.R8K;	UTR5	ENSG00000177426	.	.	9.16811292047004E-4	0.006
18	3449652	G	C	18	3449654	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon1:c.G23C:p.R8T;	UTR5	ENSG00000177426	.	.	5.22244873056314E-4	0.006
18	3449652	G	T	18	3449654	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon1:c.G23T:p.R8I;	UTR5	ENSG00000177426	.	.	6.81050447486223E-4	0.008
18	3449653	A	C	18	3449655	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon1:c.A24C:p.R8S;	UTR5	ENSG00000177426	.	.	5.34765385698842E-4	0.028
18	3449653	A	G	18	3449655	y	y	exonic	TGIF1	synonymous SNV	TGIF1:NM_001278682:exon1:c.A24G:p.R8R;	UTR5	ENSG00000177426	.	.	5.34765385698842E-4	0.04
18	3449653	A	T	18	3449655	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon1:c.A24T:p.R8S;	UTR5	ENSG00000177426	.	.	3.74714057868873E-4	0.03
18	3449654	A	C	18	3449656	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon1:c.A25C:p.S9R;	UTR5	ENSG00000177426	.	.	0.00217586145985526	0.022
18	3449654	A	G	18	3449656	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon1:c.A25G:p.S9G;	UTR5	ENSG00000177426	.	.	0.00217586145985526	0.022
18	3449654	A	T	18	3449656	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon1:c.A25T:p.S9C;	UTR5	ENSG00000177426	.	.	0.00217586145985526	0.058
18	3449655	G	A	18	3449657	y	y	splicing	TGIF1(NM_001278682:exon1:c.25+1G>A)	.	.	splicing	ENSG00000177426	.	.	0.00445644144873983	0.022
18	3449655	G	C	18	3449657	y	y	splicing	TGIF1(NM_001278682:exon1:c.25+1G>C)	.	.	splicing	ENSG00000177426	.	.	0.00337291445926674	0.024
18	3449655	G	T	18	3449657	y	y	splicing	TGIF1(NM_001278682:exon1:c.25+1G>T)	.	.	splicing	ENSG00000177426	.	.	0.00445644144873983	0.042
18	3449656	T	A	18	3449658	y	y	splicing	TGIF1(NM_001278682:exon1:c.25+2T>A)	.	.	splicing	ENSG00000177426	.	.	5.54135289458511E-4	0.032
18	3449656	T	C	18	3449658	y	y	splicing	TGIF1(NM_001278682:exon1:c.25+2T>C)	.	.	splicing	ENSG00000177426	.	.	3.0741602852464E-4	0.022
18	3449656	T	G	18	3449658	y	y	splicing	TGIF1(NM_001278682:exon1:c.25+2T>G)	.	.	splicing	ENSG00000177426	.	.	3.0741602852464E-4	0.022
18	3449657	T	A	18	3449659	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00196693334828932	0.026
18	3449657	T	C	18	3449659	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00194593705381886	0.034
18	3449657	T	G	18	3449659	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00194593705381886	0.022
18	3449658	G	A	18	3449660	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.54864143880111E-4	0.002
18	3449658	G	C	18	3449660	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.35115461238441E-4	0.002
18	3449658	G	T	18	3449660	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.39218549020993E-4	0.002
18	3449659	G	A	18	3449661	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.85172328504545E-5	0.012
18	3449659	G	C	18	3449661	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.85172328504545E-5	0.012
18	3449659	G	T	18	3449661	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.85172328504545E-5	0.012
18	3449660	T	A	18	3449662	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.03151131306328E-4	0.038
18	3449660	T	C	18	3449662	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.18022282784829E-4	0.036
18	3449660	T	G	18	3449662	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.18022282784829E-4	0.036
18	3449661	T	A	18	3449663	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.12689098276539E-4	0.034
18	3449661	T	C	18	3449663	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.93338122508907E-4	0.038
18	3449661	T	G	18	3449663	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.93338122508907E-4	0.038
18	3449662	C	A	18	3449664	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.16811292047004E-4	0.052
18	3449662	C	G	18	3449664	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.81050447486223E-4	0.012
18	3449662	C	T	18	3449664	y	y	UTR5	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.16811292047004E-4	0.004
18	3450066	A	C	18	3450068	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.09184747739173E-5	0.0
18	3450066	A	G	18	3450068	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.09184747739173E-5	0.0
18	3450066	A	T	18	3450068	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.97339794177905E-5	0.004
18	3450067	A	C	18	3450069	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	8.77536005455013E-4	0.004
18	3450067	A	G	18	3450069	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	8.77536005455013E-4	0.004
18	3450067	A	T	18	3450069	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.14959085947539E-4	0.006
18	3450068	G	A	18	3450070	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00124011247332332	0.022
18	3450068	G	C	18	3450070	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00194593705381886	0.022
18	3450068	G	T	18	3450070	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00230623835732895	0.022
18	3450069	G	A	18	3450071	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	1.06602690930623E-4	0.018
18	3450069	G	C	18	3450071	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	1.06602690930623E-4	0.018
18	3450069	G	T	18	3450071	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	1.06602690930623E-4	0.018
18	3450070	T	A	18	3450072	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.83891202920338E-5	0.0
18	3450070	T	C	18	3450072	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	9.14505838604605E-5	0.006
18	3450070	T	G	18	3450072	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	9.14505838604605E-5	0.008
18	3450071	G	A	18	3450073	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.86043302275149E-4	0.018
18	3450071	G	C	18	3450073	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.06602690930623E-4	0.018
18	3450071	G	T	18	3450073	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.06602690930623E-4	0.018
18	3450072	C	A	18	3450074	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.95838199375414E-5	0.076
18	3450072	C	G	18	3450074	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.95838199375414E-5	0.076
18	3450072	C	T	18	3450074	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.95838199375414E-5	0.076
18	3450073	G	A	18	3450075	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.0277112571666E-4	0.022
18	3450073	G	C	18	3450075	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.0277112571666E-4	0.022
18	3450073	G	T	18	3450075	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.0277112571666E-4	0.022
18	3450074	G	A	18	3450076	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00159307416553706	0.02
18	3450074	G	C	18	3450076	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00124364895216856	0.022
18	3450074	G	T	18	3450076	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00124364895216856	0.02
18	3450075	G	A	18	3450077	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.06602690930623E-4	0.02
18	3450075	G	C	18	3450077	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.06602690930623E-4	0.02
18	3450075	G	T	18	3450077	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.06602690930623E-4	0.02
18	3450076	G	A	18	3450078	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.46039206459424E-4	0.0
18	3450076	G	C	18	3450078	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.41036740142694E-4	0.0
18	3450076	G	T	18	3450078	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.46039206459424E-4	0.0
18	3450308	A	C	18	3450310	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.04496257018506E-4	0.0
18	3450308	A	G	18	3450310	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.04496257018506E-4	0.0
18	3450308	A	T	18	3450310	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.51251131484881E-5	0.0
18	3450309	T	A	18	3450311	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00135470015719765	0.0
18	3450309	T	C	18	3450311	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.0010742746733858	0.004
18	3450309	T	G	18	3450311	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00135470015719765	0.004
18	3450310	T	A	18	3450312	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.50741256861135E-4	0.014
18	3450310	T	C	18	3450312	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.61188144420053E-4	0.012
18	3450310	T	G	18	3450312	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.15147844069188E-4	0.02
18	3450311	C	A	18	3450313	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.24271619346451E-4	0.006
18	3450311	C	G	18	3450313	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.48377021181845E-4	0.002
18	3450311	C	T	18	3450313	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.24271619346451E-4	0.006
18	3450312	C	A	18	3450314	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.66623858582314E-4	0.018
18	3450312	C	G	18	3450314	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.01778106764093E-4	0.016
18	3450312	C	T	18	3450314	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.66623858582314E-4	0.016
18	3450313	A	C	18	3450315	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.01578748569253E-5	0.0
18	3450313	A	G	18	3450315	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.01578748569253E-5	0.0
18	3450313	A	T	18	3450315	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.01578748569253E-5	0.0
18	3450314	C	A	18	3450316	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.69930370103191E-5	0.0
18	3450314	C	G	18	3450316	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.69930370103191E-5	0.0
18	3450314	C	T	18	3450316	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.69930370103191E-5	0.0
18	3450315	C	A	18	3450317	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00112660670329902	0.01
18	3450315	C	G	18	3450317	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.606877273728E-4	0.014
18	3450315	C	T	18	3450317	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.89561575852949E-4	0.018
18	3450316	C	A	18	3450318	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.71819796559124E-4	0.006
18	3450316	C	G	18	3450318	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	8.19822057903476E-4	0.004
18	3450316	C	T	18	3450318	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.22244873056314E-4	0.006
18	3450317	A	C	18	3450319	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.97552862615456E-6	0.0
18	3450317	A	G	18	3450319	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.97552862615456E-6	0.002
18	3450317	A	T	18	3450319	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.97552862615456E-6	0.0
18	3450318	A	C	18	3450320	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	9.11159464097565E-5	0.002
18	3450318	A	G	18	3450320	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	9.11159464097565E-5	0.002
18	3450318	A	T	18	3450320	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	1.06021162418853E-4	0.002
18	3450319	G	A	18	3450321	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	7.89561575852949E-4	0.014
18	3450319	G	C	18	3450321	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	0.00112660670329902	0.01
18	3450319	G	T	18	3450321	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.05468988574766E-4	0.01
18	3450320	G	A	18	3450322	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.07902708129146E-4	0.008
18	3450320	G	C	18	3450322	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.5908222467397E-5	0.006
18	3450320	G	T	18	3450322	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.66901453745597E-5	0.006
18	3450321	A	C	18	3450323	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	0.00640936610638021	0.026
18	3450321	A	G	18	3450323	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	0.00640936610638021	0.026
18	3450321	A	T	18	3450323	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	0.00640936610638021	0.044
18	3450322	G	A	18	3450324	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.68952365742707E-5	0.004
18	3450322	G	C	18	3450324	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.68952365742707E-5	0.004
18	3450322	G	T	18	3450324	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.68952365742707E-5	0.004
18	3450323	C	A	18	3450325	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.82795608102266E-4	0.0
18	3450323	C	G	18	3450325	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.54864143880111E-4	0.0
18	3450323	C	T	18	3450325	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	8.19822057903476E-4	0.004
18	3450324	G	A	18	3450326	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.71811775086873E-5	0.002
18	3450324	G	C	18	3450326	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.71811775086873E-5	0.002
18	3450324	G	T	18	3450326	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.71811775086873E-5	0.002
18	3450501	A	C	18	3450503	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon2:c.A14C:p.K5T;TGIF1:NM_001278684:exon2:c.A14C:p.K5T;TGIF1:NM_003244:exon1:c.A14C:p.K5T;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.A14C:p.K5T;ENSG00000177426:ENST00000551402:exon1:c.A14C:p.K5T;ENSG00000177426:ENST00000343820:exon1:c.A14C:p.K5T;ENSG00000177426:ENST00000407501:exon2:c.A14C:p.K5T;ENSG00000177426:ENST00000546979:exon2:c.A14C:p.K5T;	4.63770597332641E-4	0.012
18	3450501	A	G	18	3450503	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon2:c.A14G:p.K5R;TGIF1:NM_001278684:exon2:c.A14G:p.K5R;TGIF1:NM_003244:exon1:c.A14G:p.K5R;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.A14G:p.K5R;ENSG00000177426:ENST00000551402:exon1:c.A14G:p.K5R;ENSG00000177426:ENST00000343820:exon1:c.A14G:p.K5R;ENSG00000177426:ENST00000407501:exon2:c.A14G:p.K5R;ENSG00000177426:ENST00000546979:exon2:c.A14G:p.K5R;	4.35658515895286E-4	0.012
18	3450501	A	T	18	3450503	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon2:c.A14T:p.K5I;TGIF1:NM_001278684:exon2:c.A14T:p.K5I;TGIF1:NM_003244:exon1:c.A14T:p.K5I;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.A14T:p.K5I;ENSG00000177426:ENST00000551402:exon1:c.A14T:p.K5I;ENSG00000177426:ENST00000343820:exon1:c.A14T:p.K5I;ENSG00000177426:ENST00000407501:exon2:c.A14T:p.K5I;ENSG00000177426:ENST00000546979:exon2:c.A14T:p.K5I;	4.35658515895286E-4	0.012
18	3450502	A	C	18	3450504	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon2:c.A15C:p.K5N;TGIF1:NM_001278684:exon2:c.A15C:p.K5N;TGIF1:NM_003244:exon1:c.A15C:p.K5N;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.A15C:p.K5N;ENSG00000177426:ENST00000551402:exon1:c.A15C:p.K5N;ENSG00000177426:ENST00000343820:exon1:c.A15C:p.K5N;ENSG00000177426:ENST00000407501:exon2:c.A15C:p.K5N;ENSG00000177426:ENST00000546979:exon2:c.A15C:p.K5N;	0.00145598400866353	0.02
18	3450502	A	G	18	3450504	y	y	exonic	TGIF1	synonymous SNV	TGIF1:NM_173208:exon2:c.A15G:p.K5K;TGIF1:NM_001278684:exon2:c.A15G:p.K5K;TGIF1:NM_003244:exon1:c.A15G:p.K5K;	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.A15G:p.K5K;ENSG00000177426:ENST00000551402:exon1:c.A15G:p.K5K;ENSG00000177426:ENST00000343820:exon1:c.A15G:p.K5K;ENSG00000177426:ENST00000407501:exon2:c.A15G:p.K5K;ENSG00000177426:ENST00000546979:exon2:c.A15G:p.K5K;	0.00123738203438252	0.018
18	3450502	A	T	18	3450504	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon2:c.A15T:p.K5N;TGIF1:NM_001278684:exon2:c.A15T:p.K5N;TGIF1:NM_003244:exon1:c.A15T:p.K5N;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.A15T:p.K5N;ENSG00000177426:ENST00000551402:exon1:c.A15T:p.K5N;ENSG00000177426:ENST00000343820:exon1:c.A15T:p.K5N;ENSG00000177426:ENST00000407501:exon2:c.A15T:p.K5N;ENSG00000177426:ENST00000546979:exon2:c.A15T:p.K5N;	0.00132104877901869	0.018
18	3450503	G	A	18	3450505	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon2:c.G16A:p.G6S;TGIF1:NM_001278684:exon2:c.G16A:p.G6S;TGIF1:NM_003244:exon1:c.G16A:p.G6S;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.G16A:p.G6S;ENSG00000177426:ENST00000551402:exon1:c.G16A:p.G6S;ENSG00000177426:ENST00000343820:exon1:c.G16A:p.G6S;ENSG00000177426:ENST00000407501:exon2:c.G16A:p.G6S;ENSG00000177426:ENST00000546979:exon2:c.G16A:p.G6S;	0.170446272990508	0.376
18	3450503	G	C	18	3450505	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon2:c.G16C:p.G6R;TGIF1:NM_001278684:exon2:c.G16C:p.G6R;TGIF1:NM_003244:exon1:c.G16C:p.G6R;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.G16C:p.G6R;ENSG00000177426:ENST00000551402:exon1:c.G16C:p.G6R;ENSG00000177426:ENST00000343820:exon1:c.G16C:p.G6R;ENSG00000177426:ENST00000407501:exon2:c.G16C:p.G6R;ENSG00000177426:ENST00000546979:exon2:c.G16C:p.G6R;	0.0165566160867694	0.034
18	3450503	G	T	18	3450505	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon2:c.G16T:p.G6C;TGIF1:NM_001278684:exon2:c.G16T:p.G6C;TGIF1:NM_003244:exon1:c.G16T:p.G6C;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000577543:exon1:c.G16T:p.G6C;ENSG00000177426:ENST00000551402:exon1:c.G16T:p.G6C;ENSG00000177426:ENST00000343820:exon1:c.G16T:p.G6C;ENSG00000177426:ENST00000407501:exon2:c.G16T:p.G6C;ENSG00000177426:ENST00000546979:exon2:c.G16T:p.G6C;	0.01589638821372	0.034
18	3450504	G	A	18	3450506	y	y	splicing	TGIF1(NM_173208:exon2:c.16+1G>A;NM_001278684:exon2:c.16+1G>A;NM_003244:exon1:c.16+1G>A)	.	.	splicing	ENSG00000177426(ENST00000343820:exon1:c.16+1G>A;ENST00000407501:exon2:c.16+1G>A;ENST00000546979:exon2:c.16+1G>A;ENST00000551402:exon1:c.16+1G>A;ENST00000577543:exon1:c.16+1G>A)	.	.	0.170446272990508	0.456
18	3450504	G	C	18	3450506	y	y	splicing	TGIF1(NM_173208:exon2:c.16+1G>C;NM_001278684:exon2:c.16+1G>C;NM_003244:exon1:c.16+1G>C)	.	.	splicing	ENSG00000177426(ENST00000343820:exon1:c.16+1G>C;ENST00000407501:exon2:c.16+1G>C;ENST00000546979:exon2:c.16+1G>C;ENST00000551402:exon1:c.16+1G>C;ENST00000577543:exon1:c.16+1G>C)	.	.	0.170446272990508	0.326
18	3450504	G	T	18	3450506	y	y	splicing	TGIF1(NM_173208:exon2:c.16+1G>T;NM_001278684:exon2:c.16+1G>T;NM_003244:exon1:c.16+1G>T)	.	.	splicing	ENSG00000177426(ENST00000343820:exon1:c.16+1G>T;ENST00000407501:exon2:c.16+1G>T;ENST00000546979:exon2:c.16+1G>T;ENST00000551402:exon1:c.16+1G>T;ENST00000577543:exon1:c.16+1G>T)	.	.	0.170446272990508	0.376
18	3450505	T	A	18	3450507	y	y	splicing	TGIF1(NM_173208:exon2:c.16+2T>A;NM_001278684:exon2:c.16+2T>A;NM_003244:exon1:c.16+2T>A)	.	.	splicing	ENSG00000177426(ENST00000343820:exon1:c.16+2T>A;ENST00000407501:exon2:c.16+2T>A;ENST00000546979:exon2:c.16+2T>A;ENST00000551402:exon1:c.16+2T>A;ENST00000577543:exon1:c.16+2T>A)	.	.	0.00939757254004931	0.15
18	3450505	T	C	18	3450507	y	y	splicing	TGIF1(NM_173208:exon2:c.16+2T>C;NM_001278684:exon2:c.16+2T>C;NM_003244:exon1:c.16+2T>C)	.	.	splicing	ENSG00000177426(ENST00000343820:exon1:c.16+2T>C;ENST00000407501:exon2:c.16+2T>C;ENST00000546979:exon2:c.16+2T>C;ENST00000551402:exon1:c.16+2T>C;ENST00000577543:exon1:c.16+2T>C)	.	.	0.00939757254004931	0.052
18	3450505	T	G	18	3450507	y	y	splicing	TGIF1(NM_173208:exon2:c.16+2T>G;NM_001278684:exon2:c.16+2T>G;NM_003244:exon1:c.16+2T>G)	.	.	splicing	ENSG00000177426(ENST00000343820:exon1:c.16+2T>G;ENST00000407501:exon2:c.16+2T>G;ENST00000546979:exon2:c.16+2T>G;ENST00000551402:exon1:c.16+2T>G;ENST00000577543:exon1:c.16+2T>G)	.	.	0.00939757254004931	0.06
18	3450506	A	C	18	3450508	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00435466241603455	0.03
18	3450506	A	G	18	3450508	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00435466241603455	0.03
18	3450506	A	T	18	3450508	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00430955476585136	0.032
18	3450507	A	C	18	3450509	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00154592920084238	0.024
18	3450507	A	G	18	3450509	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00154592920084238	0.024
18	3450507	A	T	18	3450509	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00154592920084238	0.024
18	3450508	G	A	18	3450510	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00218450605701843	0.026
18	3450508	G	C	18	3450510	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00158615365629336	0.032
18	3450508	G	T	18	3450510	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00210949292255847	0.032
18	3450509	G	A	18	3450511	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.47959532904733E-5	0.03
18	3450509	G	C	18	3450511	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.47959532904733E-5	0.014
18	3450509	G	T	18	3450511	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.47959532904733E-5	0.014
18	3450510	C	A	18	3450512	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.08159923002108E-5	0.004
18	3450510	C	G	18	3450512	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.00238715200698E-5	0.0
18	3450510	C	T	18	3450512	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.56736691428002E-5	0.006
18	3450511	G	A	18	3450513	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.41215694109E-6	0.0
18	3450511	G	C	18	3450513	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.09337574150394E-6	0.004
18	3450511	G	T	18	3450513	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.09337574150394E-6	0.0
18	3451767	G	A	18	3451769	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.05918261028706E-4	0.0
18	3451767	G	C	18	3451769	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.24453633365032E-5	0.0
18	3451767	G	T	18	3451769	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.24453633365032E-5	0.0
18	3451768	T	A	18	3451770	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.94728994972511E-5	0.0
18	3451768	T	C	18	3451770	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	8.29446782330888E-5	0.006
18	3451768	T	G	18	3451770	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	8.29446782330888E-5	0.006
18	3451769	T	A	18	3451771	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.08483495460727E-4	0.008
18	3451769	T	C	18	3451771	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.5480235718294E-5	0.008
18	3451769	T	G	18	3451771	n	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.5480235718294E-5	0.008
18	3451770	G	A	18	3451772	n	y	UTR5	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.12261273777789E-4	0.002
18	3451770	G	C	18	3451772	n	y	UTR5	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.91205019027834E-4	0.002
18	3451770	G	T	18	3451772	n	y	UTR5	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.12261273777789E-4	0.002
18	3451771	T	A	18	3451773	y	y	UTR5	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.951189346585E-5	0.002
18	3451771	T	C	18	3451773	y	y	UTR5	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.951189346585E-5	0.002
18	3451771	T	G	18	3451773	y	y	UTR5	TGIF1	.	.	splicing	ENSG00000177426	.	.	3.951189346585E-5	0.002
18	3451772	T	A	18	3451774	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.37367921756301E-5	0.002
18	3451772	T	C	18	3451774	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.37367921756301E-5	0.0
18	3451772	T	G	18	3451774	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.37367921756301E-5	0.0
18	3451773	G	A	18	3451775	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.43346443961288E-5	0.002
18	3451773	G	C	18	3451775	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.25524929795369E-5	0.002
18	3451773	G	T	18	3451775	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.43346443961288E-5	0.002
18	3451774	G	A	18	3451776	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.5908222467397E-5	0.002
18	3451774	G	C	18	3451776	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.5908222467397E-5	0.002
18	3451774	G	T	18	3451776	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	6.5908222467397E-5	0.002
18	3451775	T	A	18	3451777	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.15941453541388E-5	0.004
18	3451775	T	C	18	3451777	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.15941453541388E-5	0.004
18	3451775	T	G	18	3451777	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	5.15941453541388E-5	0.004
18	3451776	A	C	18	3451778	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.05808194911997E-5	0.004
18	3451776	A	G	18	3451778	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.05808194911997E-5	0.004
18	3451776	A	T	18	3451778	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.05808194911997E-5	0.004
18	3451777	G	A	18	3451779	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.69930370103191E-5	0.0
18	3451777	G	C	18	3451779	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.69930370103191E-5	0.0
18	3451777	G	T	18	3451779	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.69930370103191E-5	0.0
18	3451778	A	C	18	3451780	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.72644098080992E-5	0.0
18	3451778	A	G	18	3451780	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.72644098080992E-5	0.0
18	3451778	A	T	18	3451780	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.72644098080992E-5	0.002
18	3451779	A	C	18	3451781	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.39083642728588E-5	0.006
18	3451779	A	G	18	3451781	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.39083642728588E-5	0.006
18	3451779	A	T	18	3451781	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	9.39083642728588E-5	0.006
18	3451780	C	A	18	3451782	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00951067369662903	0.02
18	3451780	C	G	18	3451782	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00951067369662903	0.016
18	3451780	C	T	18	3451782	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.0106228908163107	0.018
18	3451781	G	A	18	3451783	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.69439264402225E-5	0.002
18	3451781	G	C	18	3451783	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.69439264402225E-5	0.002
18	3451781	G	T	18	3451783	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.69439264402225E-5	0.002
18	3452378	A	C	18	3452380	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_170695:exon1:c.A401C:p.K134T;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.A401C:p.K134T;	0.00445844954213082	0.032
18	3452378	A	G	18	3452380	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_170695:exon1:c.A401G:p.K134R;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.A401G:p.K134R;	0.00398261958714489	0.136
18	3452378	A	T	18	3452380	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_170695:exon1:c.A401T:p.K134I;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.A401T:p.K134I;	0.983672151616843	0.702
18	3452379	A	C	18	3452381	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_170695:exon1:c.A402C:p.K134N;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.A402C:p.K134N;	0.974273229802115	0.792
18	3452379	A	G	18	3452381	y	y	exonic	TGIF1	synonymous SNV	TGIF1:NM_170695:exon1:c.A402G:p.K134K;	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.A402G:p.K134K;	0.996832549621733	0.92
18	3452379	A	T	18	3452381	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_170695:exon1:c.A402T:p.K134N;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.A402T:p.K134N;	0.996708768701442	0.832
18	3452380	G	A	18	3452382	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_170695:exon1:c.G403A:p.G135S;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.G403A:p.G135S;	0.999997767213334	0.95
18	3452380	G	C	18	3452382	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_170695:exon1:c.G403C:p.G135R;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.G403C:p.G135R;	0.999979191240388	0.946
18	3452380	G	T	18	3452382	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_170695:exon1:c.G403T:p.G135C;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon1:c.G403T:p.G135C;	0.999934200593599	0.96
18	3452381	G	A	18	3452383	y	y	splicing	TGIF1(NM_170695:exon1:c.403+1G>A)	.	.	splicing	ENSG00000177426(ENST00000330513:exon1:c.403+1G>A)	.	.	0.999915880790409	0.924
18	3452381	G	C	18	3452383	y	y	splicing	TGIF1(NM_170695:exon1:c.403+1G>C)	.	.	splicing	ENSG00000177426(ENST00000330513:exon1:c.403+1G>C)	.	.	0.999949778486911	0.922
18	3452381	G	T	18	3452383	y	y	splicing	TGIF1(NM_170695:exon1:c.403+1G>T)	.	.	splicing	ENSG00000177426(ENST00000330513:exon1:c.403+1G>T)	.	.	0.999949778486911	0.924
18	3452382	T	A	18	3452384	y	y	splicing	TGIF1(NM_170695:exon1:c.403+2T>A)	.	.	splicing	ENSG00000177426(ENST00000330513:exon1:c.403+2T>A)	.	.	0.999969393053703	0.91
18	3452382	T	C	18	3452384	y	y	splicing	TGIF1(NM_170695:exon1:c.403+2T>C)	.	.	splicing	ENSG00000177426(ENST00000330513:exon1:c.403+2T>C)	.	.	0.999623182723978	0.882
18	3452382	T	G	18	3452384	y	y	splicing	TGIF1(NM_170695:exon1:c.403+2T>G)	.	.	splicing	ENSG00000177426(ENST00000330513:exon1:c.403+2T>G)	.	.	0.999968585001639	0.886
18	3452383	G	A	18	3452385	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.57063907142726E-4	0.108
18	3452383	G	C	18	3452385	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.97759005064761	0.682
18	3452383	G	T	18	3452385	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.994900316698209	0.632
18	3452384	A	C	18	3452386	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.348203664441318	0.422
18	3452384	A	G	18	3452386	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.987879003178495	0.886
18	3452384	A	T	18	3452386	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.95134824884801	0.826
18	3452385	C	A	18	3452387	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.48843146119993E-5	0.05
18	3452385	C	G	18	3452387	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.15825032197072E-4	0.018
18	3452385	C	T	18	3452387	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.87792056737723E-4	0.016
18	3452386	G	A	18	3452388	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.83741924989343E-4	0.02
18	3452386	G	C	18	3452388	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.9029935152804E-4	0.022
18	3452386	G	T	18	3452388	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.48453886750501E-5	0.0
18	3452387	G	A	18	3452389	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.84284240824962E-5	0.0
18	3452387	G	C	18	3452389	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.1930492655505E-5	0.0
18	3452387	G	T	18	3452389	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.21268672554329E-4	0.024
18	3452388	G	A	18	3452390	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.33308296055063E-4	0.124
18	3452388	G	C	18	3452390	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.81797781305163E-4	0.082
18	3452388	G	T	18	3452390	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.67447560481077E-4	0.044
18	3453852	A	C	18	3453854	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.69171314780076E-4	0.004
18	3453852	A	G	18	3453854	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.69171314780076E-4	0.004
18	3453852	A	T	18	3453854	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.25919551743448E-4	0.006
18	3453853	G	A	18	3453855	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.90287446366099E-5	0.0
18	3453853	G	C	18	3453855	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.47717862634247E-5	0.0
18	3453853	G	T	18	3453855	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.90287446366099E-5	0.0
18	3453854	T	A	18	3453856	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.33950268484782E-4	0.002
18	3453854	T	C	18	3453856	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.73401366462724E-4	0.002
18	3453854	T	G	18	3453856	y	y	UTR5	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.73401366462724E-4	0.002
18	3453855	G	A	18	3453857	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	1.14381963664232E-4	0.014
18	3453855	G	C	18	3453857	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	9.83014417619686E-5	0.014
18	3453855	G	T	18	3453857	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	9.83014417619686E-5	0.014
18	3453856	T	A	18	3453858	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	0.00464429886053217	0.02
18	3453856	T	C	18	3453858	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	0.00455550459124179	0.016
18	3453856	T	G	18	3453858	y	y	splicing	TGIF1	.	.	splicing	ENSG00000177426	.	.	0.00455550459124179	0.016
18	3453857	A	C	18	3453859	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.73401366462724E-4	0.024
18	3453857	A	G	18	3453859	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.23244617478918E-4	0.008
18	3453857	A	T	18	3453859	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.75275693303219E-4	0.006
18	3453858	A	C	18	3453860	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.70373002829532E-4	0.006
18	3453858	A	G	18	3453860	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.70373002829532E-4	0.006
18	3453858	A	T	18	3453860	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.70373002829532E-4	0.012
18	3453859	G	A	18	3453861	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.77107584242759E-4	0.162
18	3453859	G	C	18	3453861	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.16264226968891E-4	0.162
18	3453859	G	T	18	3453861	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.16264226968891E-4	0.162
18	3453860	C	A	18	3453862	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00142735580967832	0.038
18	3453860	C	G	18	3453862	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.00142735580967832	0.038
18	3453860	C	T	18	3453862	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.0016918016095182	0.05
18	3453861	A	C	18	3453863	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.09332237519757E-5	0.038
18	3453861	A	G	18	3453863	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.09332237519757E-5	0.038
18	3453861	A	T	18	3453863	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.09332237519757E-5	0.038
18	3453862	A	C	18	3453864	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.54583771157E-5	0.0
18	3453862	A	G	18	3453864	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.54583771157E-5	0.0
18	3453862	A	T	18	3453864	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	5.25211152755068E-5	0.0
18	3455254	A	C	18	3455256	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00109474834552396	0.004
18	3455254	A	G	18	3455256	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00109474834552396	0.006
18	3455254	A	T	18	3455256	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00106472840520139	0.004
18	3455255	A	C	18	3455257	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00131770435580994	0.004
18	3455255	A	G	18	3455257	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00131770435580994	0.006
18	3455255	A	T	18	3455257	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.00156186683719117	0.036
18	3455256	G	A	18	3455258	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.57076726553018E-5	0.0
18	3455256	G	C	18	3455258	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.57076726553018E-5	0.0
18	3455256	G	T	18	3455258	n	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.57076726553018E-5	0.0
18	3455257	G	A	18	3455259	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.7749166663215E-5	0.0
18	3455257	G	C	18	3455259	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.19067828697559E-5	0.002
18	3455257	G	T	18	3455259	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	4.7749166663215E-5	0.0
18	3455258	T	A	18	3455260	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	1.61573489914097E-5	0.008
18	3455258	T	C	18	3455260	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	2.21140605546582E-5	0.086
18	3455258	T	G	18	3455260	n	y	intronic	TGIF1	.	.	splicing	ENSG00000177426	.	.	2.21140605546582E-5	0.046
18	3455259	G	A	18	3455261	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.06619588578661E-5	0.006
18	3455259	G	C	18	3455261	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.36187558740154E-5	0.004
18	3455259	G	T	18	3455261	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.06619588578661E-5	0.006
18	3455260	G	A	18	3455262	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.06619588578661E-5	0.006
18	3455260	G	C	18	3455262	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.36187558740154E-5	0.006
18	3455260	G	T	18	3455262	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	9.06619588578661E-5	0.006
18	3455261	A	C	18	3455263	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.97552862615456E-6	0.0
18	3455261	A	G	18	3455263	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.97552862615456E-6	0.0
18	3455261	A	T	18	3455263	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.60578370355274E-6	0.0
18	3455262	A	C	18	3455264	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.27620625662839E-5	0.002
18	3455262	A	G	18	3455264	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.27620625662839E-5	0.002
18	3455262	A	T	18	3455264	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.88813965826561E-5	0.004
18	3455263	T	A	18	3455265	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.15267776820636E-5	0.0
18	3455263	T	C	18	3455265	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.91564032431422E-5	0.0
18	3455263	T	G	18	3455265	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.91564032431422E-5	0.0
18	3455264	T	A	18	3455266	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.93338122508907E-4	0.018
18	3455264	T	C	18	3455266	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.28931909661929E-4	0.018
18	3455264	T	G	18	3455266	n	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	2.28931909661929E-4	0.018
18	3456340	G	A	18	3456342	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.05035836357229E-4	0.008
18	3456340	G	C	18	3456342	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.89111882862702E-4	0.002
18	3456340	G	T	18	3456342	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.16498781150194E-4	0.0
18	3456341	T	A	18	3456343	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.0393331801701358	0.522
18	3456341	T	C	18	3456343	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.0353417944927378	0.27
18	3456341	T	G	18	3456343	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.0438317445694941	0.478
18	3456342	C	A	18	3456344	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.40185636949727E-4	0.12
18	3456342	C	G	18	3456344	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.6225007593352E-4	0.022
18	3456342	C	T	18	3456344	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	4.29140931383084E-5	0.0
18	3456343	C	A	18	3456345	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.65712253432834E-4	0.078
18	3456343	C	G	18	3456345	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.77975444340113E-4	0.062
18	3456343	C	T	18	3456345	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.5858886871353E-4	0.002
18	3456344	T	A	18	3456346	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.86119360777493E-4	0.088
18	3456344	T	C	18	3456346	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.31590958955662E-4	0.014
18	3456344	T	G	18	3456346	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.85767461742265E-4	0.09
18	3456345	T	A	18	3456347	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.95307880954196E-5	0.048
18	3456345	T	C	18	3456347	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.06581526680193E-5	0.0
18	3456345	T	G	18	3456347	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	5.75353236080067E-5	0.04
18	3456346	T	A	18	3456348	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.00171182833338E-4	0.018
18	3456346	T	C	18	3456348	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.48636016620278E-5	0.002
18	3456346	T	G	18	3456348	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.0949652094244E-4	0.03
18	3456347	C	A	18	3456349	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.26976214882005E-4	0.052
18	3456347	C	G	18	3456349	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	6.91292775668415E-5	0.042
18	3456347	C	T	18	3456349	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	3.89570391967576E-5	0.006
18	3456348	C	A	18	3456350	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.23622056826722E-5	0.0
18	3456348	C	G	18	3456350	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	1.55113594577288E-5	0.0
18	3456348	C	T	18	3456350	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.23622056826722E-5	0.002
18	3456349	T	A	18	3456351	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	7.77788171692929E-4	0.076
18	3456349	T	C	18	3456351	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	2.9525464281777E-5	0.0
18	3456349	T	G	18	3456351	y	y	intronic	TGIF1	.	.	UTR5	ENSG00000177426	.	.	0.653417923608695	0.586
18	3456350	A	C	18	3456352	y	y	splicing	TGIF1(NM_173207:exon2:c.59-2A>C;NM_001278682:exon2:c.26-2A>C;NM_173208:exon3:c.17-2A>C;NM_001278684:exon3:c.17-2A>C;NM_003244:exon2:c.17-2A>C;NM_170695:exon2:c.404-2A>C)	.	.	splicing	ENSG00000177426(ENST00000548489:exon2:c.59-2A>C;ENST00000343820:exon2:c.17-2A>C;ENST00000407501:exon3:c.17-2A>C;ENST00000546979:exon3:c.17-2A>C;ENST00000551402:exon2:c.17-2A>C;ENST00000577543:exon2:c.17-2A>C;ENST00000330513:exon2:c.404-2A>C)	.	.	0.999972155025474	0.874
18	3456350	A	G	18	3456352	y	y	splicing	TGIF1(NM_173207:exon2:c.59-2A>G;NM_001278682:exon2:c.26-2A>G;NM_173208:exon3:c.17-2A>G;NM_001278684:exon3:c.17-2A>G;NM_003244:exon2:c.17-2A>G;NM_170695:exon2:c.404-2A>G)	.	.	splicing	ENSG00000177426(ENST00000548489:exon2:c.59-2A>G;ENST00000343820:exon2:c.17-2A>G;ENST00000407501:exon3:c.17-2A>G;ENST00000546979:exon3:c.17-2A>G;ENST00000551402:exon2:c.17-2A>G;ENST00000577543:exon2:c.17-2A>G;ENST00000330513:exon2:c.404-2A>G)	.	.	0.999972155025474	0.872
18	3456350	A	T	18	3456352	y	y	splicing	TGIF1(NM_173207:exon2:c.59-2A>T;NM_001278682:exon2:c.26-2A>T;NM_173208:exon3:c.17-2A>T;NM_001278684:exon3:c.17-2A>T;NM_003244:exon2:c.17-2A>T;NM_170695:exon2:c.404-2A>T)	.	.	splicing	ENSG00000177426(ENST00000548489:exon2:c.59-2A>T;ENST00000343820:exon2:c.17-2A>T;ENST00000407501:exon3:c.17-2A>T;ENST00000546979:exon3:c.17-2A>T;ENST00000551402:exon2:c.17-2A>T;ENST00000577543:exon2:c.17-2A>T;ENST00000330513:exon2:c.404-2A>T)	.	.	0.999971317418422	0.892
18	3456351	G	A	18	3456353	y	y	splicing	TGIF1(NM_173207:exon2:c.59-1G>A;NM_001278682:exon2:c.26-1G>A;NM_173208:exon3:c.17-1G>A;NM_001278684:exon3:c.17-1G>A;NM_003244:exon2:c.17-1G>A;NM_170695:exon2:c.404-1G>A)	.	.	splicing	ENSG00000177426(ENST00000548489:exon2:c.59-1G>A;ENST00000343820:exon2:c.17-1G>A;ENST00000407501:exon3:c.17-1G>A;ENST00000546979:exon3:c.17-1G>A;ENST00000551402:exon2:c.17-1G>A;ENST00000577543:exon2:c.17-1G>A;ENST00000330513:exon2:c.404-1G>A)	.	.	0.999960597114489	0.904
18	3456351	G	C	18	3456353	y	y	splicing	TGIF1(NM_173207:exon2:c.59-1G>C;NM_001278682:exon2:c.26-1G>C;NM_173208:exon3:c.17-1G>C;NM_001278684:exon3:c.17-1G>C;NM_003244:exon2:c.17-1G>C;NM_170695:exon2:c.404-1G>C)	.	.	splicing	ENSG00000177426(ENST00000548489:exon2:c.59-1G>C;ENST00000343820:exon2:c.17-1G>C;ENST00000407501:exon3:c.17-1G>C;ENST00000546979:exon3:c.17-1G>C;ENST00000551402:exon2:c.17-1G>C;ENST00000577543:exon2:c.17-1G>C;ENST00000330513:exon2:c.404-1G>C)	.	.	0.999976475802857	0.908
18	3456351	G	T	18	3456353	y	y	splicing	TGIF1(NM_173207:exon2:c.59-1G>T;NM_001278682:exon2:c.26-1G>T;NM_173208:exon3:c.17-1G>T;NM_001278684:exon3:c.17-1G>T;NM_003244:exon2:c.17-1G>T;NM_170695:exon2:c.404-1G>T)	.	.	splicing	ENSG00000177426(ENST00000548489:exon2:c.59-1G>T;ENST00000343820:exon2:c.17-1G>T;ENST00000407501:exon3:c.17-1G>T;ENST00000546979:exon3:c.17-1G>T;ENST00000551402:exon2:c.17-1G>T;ENST00000577543:exon2:c.17-1G>T;ENST00000330513:exon2:c.404-1G>T)	.	.	0.999976475802857	0.91
18	3456352	G	A	18	3456354	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.G17A:p.G6D;TGIF1:NM_170695:exon2:c.G404A:p.G135D;TGIF1:NM_001278684:exon3:c.G17A:p.G6D;TGIF1:NM_173207:exon2:c.G59A:p.G20D;TGIF1:NM_001278682:exon2:c.G26A:p.S9N;TGIF1:NM_003244:exon2:c.G17A:p.G6D;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon2:c.G404A:p.G135D;ENSG00000177426:ENST00000577543:exon2:c.G17A:p.G6D;ENSG00000177426:ENST00000551402:exon2:c.G17A:p.G6D;ENSG00000177426:ENST00000548489:exon2:c.G59A:p.G20D;ENSG00000177426:ENST00000343820:exon2:c.G17A:p.G6D;ENSG00000177426:ENST00000407501:exon3:c.G17A:p.G6D;ENSG00000177426:ENST00000546979:exon3:c.G17A:p.G6D;	0.484817731061685	0.532
18	3456352	G	C	18	3456354	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.G17C:p.G6A;TGIF1:NM_170695:exon2:c.G404C:p.G135A;TGIF1:NM_001278684:exon3:c.G17C:p.G6A;TGIF1:NM_173207:exon2:c.G59C:p.G20A;TGIF1:NM_001278682:exon2:c.G26C:p.S9T;TGIF1:NM_003244:exon2:c.G17C:p.G6A;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon2:c.G404C:p.G135A;ENSG00000177426:ENST00000577543:exon2:c.G17C:p.G6A;ENSG00000177426:ENST00000551402:exon2:c.G17C:p.G6A;ENSG00000177426:ENST00000548489:exon2:c.G59C:p.G20A;ENSG00000177426:ENST00000343820:exon2:c.G17C:p.G6A;ENSG00000177426:ENST00000407501:exon3:c.G17C:p.G6A;ENSG00000177426:ENST00000546979:exon3:c.G17C:p.G6A;	0.973011469783377	0.52
18	3456352	G	T	18	3456354	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.G17T:p.G6V;TGIF1:NM_170695:exon2:c.G404T:p.G135V;TGIF1:NM_001278684:exon3:c.G17T:p.G6V;TGIF1:NM_173207:exon2:c.G59T:p.G20V;TGIF1:NM_001278682:exon2:c.G26T:p.S9I;TGIF1:NM_003244:exon2:c.G17T:p.G6V;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000330513:exon2:c.G404T:p.G135V;ENSG00000177426:ENST00000577543:exon2:c.G17T:p.G6V;ENSG00000177426:ENST00000551402:exon2:c.G17T:p.G6V;ENSG00000177426:ENST00000548489:exon2:c.G59T:p.G20V;ENSG00000177426:ENST00000343820:exon2:c.G17T:p.G6V;ENSG00000177426:ENST00000407501:exon3:c.G17T:p.G6V;ENSG00000177426:ENST00000546979:exon3:c.G17T:p.G6V;	0.936746498492807	0.574
18	3456353	T	A	18	3456355	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon2:c.T27A:p.S9R;	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000330513:exon2:c.T405A:p.G135G;ENSG00000177426:ENST00000577543:exon2:c.T18A:p.G6G;ENSG00000177426:ENST00000551402:exon2:c.T18A:p.G6G;ENSG00000177426:ENST00000548489:exon2:c.T60A:p.G20G;ENSG00000177426:ENST00000343820:exon2:c.T18A:p.G6G;ENSG00000177426:ENST00000407501:exon3:c.T18A:p.G6G;ENSG00000177426:ENST00000546979:exon3:c.T18A:p.G6G;	1.42452613039029E-4	0.0
18	3456353	T	C	18	3456355	y	y	exonic	TGIF1	synonymous SNV	TGIF1:NM_173208:exon3:c.T18C:p.G6G;TGIF1:NM_170695:exon2:c.T405C:p.G135G;TGIF1:NM_001278684:exon3:c.T18C:p.G6G;TGIF1:NM_173207:exon2:c.T60C:p.G20G;TGIF1:NM_001278682:exon2:c.T27C:p.S9S;TGIF1:NM_003244:exon2:c.T18C:p.G6G;	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000330513:exon2:c.T405C:p.G135G;ENSG00000177426:ENST00000577543:exon2:c.T18C:p.G6G;ENSG00000177426:ENST00000551402:exon2:c.T18C:p.G6G;ENSG00000177426:ENST00000548489:exon2:c.T60C:p.G20G;ENSG00000177426:ENST00000343820:exon2:c.T18C:p.G6G;ENSG00000177426:ENST00000407501:exon3:c.T18C:p.G6G;ENSG00000177426:ENST00000546979:exon3:c.T18C:p.G6G;	7.63612950556487E-5	0.002
18	3456353	T	G	18	3456355	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_001278682:exon2:c.T27G:p.S9R;	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000330513:exon2:c.T405G:p.G135G;ENSG00000177426:ENST00000577543:exon2:c.T18G:p.G6G;ENSG00000177426:ENST00000551402:exon2:c.T18G:p.G6G;ENSG00000177426:ENST00000548489:exon2:c.T60G:p.G20G;ENSG00000177426:ENST00000343820:exon2:c.T18G:p.G6G;ENSG00000177426:ENST00000407501:exon3:c.T18G:p.G6G;ENSG00000177426:ENST00000546979:exon3:c.T18G:p.G6G;	1.10084554408789E-4	0.0
18	3456576	C	A	18	3456578	y	n	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.C241A:p.Q81K;TGIF1:NM_170695:exon2:c.C628A:p.Q210K;TGIF1:NM_001278684:exon3:c.C241A:p.Q81K;TGIF1:NM_174886:exon3:c.C181A:p.Q61K;TGIF1:NM_173209:exon2:c.C181A:p.Q61K;TGIF1:NM_173211:exon2:c.C181A:p.Q61K;TGIF1:NM_173207:exon2:c.C283A:p.Q95K;TGIF1:NM_001278686:exon3:c.C181A:p.Q61K;TGIF1:NM_173210:exon2:c.C181A:p.Q61K;TGIF1:NM_001278682:exon2:c.C250A:p.Q84K;TGIF1:NM_003244:exon2:c.C241A:p.Q81K;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon3:c.C181A:p.Q61K;ENSG00000177426:ENST00000330513:exon2:c.C628A:p.Q210K;ENSG00000177426:ENST00000551541:exon2:c.C181A:p.Q61K;ENSG00000177426:ENST00000400167:exon2:c.C181A:p.Q61K;ENSG00000177426:ENST00000577543:exon2:c.C241A:p.Q81K;ENSG00000177426:ENST00000551402:exon2:c.C241A:p.Q81K;ENSG00000177426:ENST00000548489:exon2:c.C283A:p.Q95K;ENSG00000177426:ENST00000550958:exon3:c.C181A:p.Q61K;ENSG00000177426:ENST00000343820:exon2:c.C241A:p.Q81K;ENSG00000177426:ENST00000549780:exon2:c.C181A:p.Q61K;ENSG00000177426:ENST00000551333:exon2:c.C181A:p.Q61K;ENSG00000177426:ENST00000552383:exon3:c.C181A:p.Q61K;ENSG00000177426:ENST00000407501:exon3:c.C241A:p.Q81K;ENSG00000177426:ENST00000549468:exon2:c.C181A:p.Q61K;ENSG00000177426:ENST00000546979:exon3:c.C241A:p.Q81K;ENSG00000177426:ENST00000549546:exon2:c.C181A:p.Q61K;ENSG00000177426:ENST00000345133:exon2:c.C181A:p.Q61K;ENSG00000177426:ENST00000472042:exon1:c.C181A:p.Q61K;ENSG00000177426:ENST00000405385:exon2:c.C181A:p.Q61K;ENSG00000177426:ENST00000549253:exon2:c.C181A:p.Q61K;	0.953981635662591	0.728
18	3456576	C	G	18	3456578	y	n	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.C241G:p.Q81E;TGIF1:NM_170695:exon2:c.C628G:p.Q210E;TGIF1:NM_001278684:exon3:c.C241G:p.Q81E;TGIF1:NM_174886:exon3:c.C181G:p.Q61E;TGIF1:NM_173209:exon2:c.C181G:p.Q61E;TGIF1:NM_173211:exon2:c.C181G:p.Q61E;TGIF1:NM_173207:exon2:c.C283G:p.Q95E;TGIF1:NM_001278686:exon3:c.C181G:p.Q61E;TGIF1:NM_173210:exon2:c.C181G:p.Q61E;TGIF1:NM_001278682:exon2:c.C250G:p.Q84E;TGIF1:NM_003244:exon2:c.C241G:p.Q81E;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon3:c.C181G:p.Q61E;ENSG00000177426:ENST00000330513:exon2:c.C628G:p.Q210E;ENSG00000177426:ENST00000551541:exon2:c.C181G:p.Q61E;ENSG00000177426:ENST00000400167:exon2:c.C181G:p.Q61E;ENSG00000177426:ENST00000577543:exon2:c.C241G:p.Q81E;ENSG00000177426:ENST00000551402:exon2:c.C241G:p.Q81E;ENSG00000177426:ENST00000548489:exon2:c.C283G:p.Q95E;ENSG00000177426:ENST00000550958:exon3:c.C181G:p.Q61E;ENSG00000177426:ENST00000343820:exon2:c.C241G:p.Q81E;ENSG00000177426:ENST00000549780:exon2:c.C181G:p.Q61E;ENSG00000177426:ENST00000551333:exon2:c.C181G:p.Q61E;ENSG00000177426:ENST00000552383:exon3:c.C181G:p.Q61E;ENSG00000177426:ENST00000407501:exon3:c.C241G:p.Q81E;ENSG00000177426:ENST00000549468:exon2:c.C181G:p.Q61E;ENSG00000177426:ENST00000546979:exon3:c.C241G:p.Q81E;ENSG00000177426:ENST00000549546:exon2:c.C181G:p.Q61E;ENSG00000177426:ENST00000345133:exon2:c.C181G:p.Q61E;ENSG00000177426:ENST00000472042:exon1:c.C181G:p.Q61E;ENSG00000177426:ENST00000405385:exon2:c.C181G:p.Q61E;ENSG00000177426:ENST00000549253:exon2:c.C181G:p.Q61E;	0.978557005081991	0.62
18	3456576	C	T	18	3456578	y	n	exonic	TGIF1	stopgain SNV	TGIF1:NM_173208:exon3:c.C241T:p.Q81X;TGIF1:NM_170695:exon2:c.C628T:p.Q210X;TGIF1:NM_001278684:exon3:c.C241T:p.Q81X;TGIF1:NM_174886:exon3:c.C181T:p.Q61X;TGIF1:NM_173209:exon2:c.C181T:p.Q61X;TGIF1:NM_173211:exon2:c.C181T:p.Q61X;TGIF1:NM_173207:exon2:c.C283T:p.Q95X;TGIF1:NM_001278686:exon3:c.C181T:p.Q61X;TGIF1:NM_173210:exon2:c.C181T:p.Q61X;TGIF1:NM_001278682:exon2:c.C250T:p.Q84X;TGIF1:NM_003244:exon2:c.C241T:p.Q81X;	exonic	ENSG00000177426	stopgain SNV	ENSG00000177426:ENST00000401449:exon3:c.C181T:p.Q61X;ENSG00000177426:ENST00000330513:exon2:c.C628T:p.Q210X;ENSG00000177426:ENST00000551541:exon2:c.C181T:p.Q61X;ENSG00000177426:ENST00000400167:exon2:c.C181T:p.Q61X;ENSG00000177426:ENST00000577543:exon2:c.C241T:p.Q81X;ENSG00000177426:ENST00000551402:exon2:c.C241T:p.Q81X;ENSG00000177426:ENST00000548489:exon2:c.C283T:p.Q95X;ENSG00000177426:ENST00000550958:exon3:c.C181T:p.Q61X;ENSG00000177426:ENST00000343820:exon2:c.C241T:p.Q81X;ENSG00000177426:ENST00000549780:exon2:c.C181T:p.Q61X;ENSG00000177426:ENST00000551333:exon2:c.C181T:p.Q61X;ENSG00000177426:ENST00000552383:exon3:c.C181T:p.Q61X;ENSG00000177426:ENST00000407501:exon3:c.C241T:p.Q81X;ENSG00000177426:ENST00000549468:exon2:c.C181T:p.Q61X;ENSG00000177426:ENST00000546979:exon3:c.C241T:p.Q81X;ENSG00000177426:ENST00000549546:exon2:c.C181T:p.Q61X;ENSG00000177426:ENST00000345133:exon2:c.C181T:p.Q61X;ENSG00000177426:ENST00000472042:exon1:c.C181T:p.Q61X;ENSG00000177426:ENST00000405385:exon2:c.C181T:p.Q61X;ENSG00000177426:ENST00000549253:exon2:c.C181T:p.Q61X;	0.999577750163046	0.938
18	3456577	A	C	18	3456579	y	n	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.A242C:p.Q81P;TGIF1:NM_170695:exon2:c.A629C:p.Q210P;TGIF1:NM_001278684:exon3:c.A242C:p.Q81P;TGIF1:NM_174886:exon3:c.A182C:p.Q61P;TGIF1:NM_173209:exon2:c.A182C:p.Q61P;TGIF1:NM_173211:exon2:c.A182C:p.Q61P;TGIF1:NM_173207:exon2:c.A284C:p.Q95P;TGIF1:NM_001278686:exon3:c.A182C:p.Q61P;TGIF1:NM_173210:exon2:c.A182C:p.Q61P;TGIF1:NM_001278682:exon2:c.A251C:p.Q84P;TGIF1:NM_003244:exon2:c.A242C:p.Q81P;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon3:c.A182C:p.Q61P;ENSG00000177426:ENST00000330513:exon2:c.A629C:p.Q210P;ENSG00000177426:ENST00000551541:exon2:c.A182C:p.Q61P;ENSG00000177426:ENST00000400167:exon2:c.A182C:p.Q61P;ENSG00000177426:ENST00000577543:exon2:c.A242C:p.Q81P;ENSG00000177426:ENST00000551402:exon2:c.A242C:p.Q81P;ENSG00000177426:ENST00000548489:exon2:c.A284C:p.Q95P;ENSG00000177426:ENST00000550958:exon3:c.A182C:p.Q61P;ENSG00000177426:ENST00000343820:exon2:c.A242C:p.Q81P;ENSG00000177426:ENST00000549780:exon2:c.A182C:p.Q61P;ENSG00000177426:ENST00000551333:exon2:c.A182C:p.Q61P;ENSG00000177426:ENST00000552383:exon3:c.A182C:p.Q61P;ENSG00000177426:ENST00000407501:exon3:c.A242C:p.Q81P;ENSG00000177426:ENST00000549468:exon2:c.A182C:p.Q61P;ENSG00000177426:ENST00000546979:exon3:c.A242C:p.Q81P;ENSG00000177426:ENST00000549546:exon2:c.A182C:p.Q61P;ENSG00000177426:ENST00000345133:exon2:c.A182C:p.Q61P;ENSG00000177426:ENST00000472042:exon1:c.A182C:p.Q61P;ENSG00000177426:ENST00000405385:exon2:c.A182C:p.Q61P;ENSG00000177426:ENST00000549253:exon2:c.A182C:p.Q61P;	0.998621923801652	0.996
18	3456577	A	G	18	3456579	y	n	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.A242G:p.Q81R;TGIF1:NM_170695:exon2:c.A629G:p.Q210R;TGIF1:NM_001278684:exon3:c.A242G:p.Q81R;TGIF1:NM_174886:exon3:c.A182G:p.Q61R;TGIF1:NM_173209:exon2:c.A182G:p.Q61R;TGIF1:NM_173211:exon2:c.A182G:p.Q61R;TGIF1:NM_173207:exon2:c.A284G:p.Q95R;TGIF1:NM_001278686:exon3:c.A182G:p.Q61R;TGIF1:NM_173210:exon2:c.A182G:p.Q61R;TGIF1:NM_001278682:exon2:c.A251G:p.Q84R;TGIF1:NM_003244:exon2:c.A242G:p.Q81R;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon3:c.A182G:p.Q61R;ENSG00000177426:ENST00000330513:exon2:c.A629G:p.Q210R;ENSG00000177426:ENST00000551541:exon2:c.A182G:p.Q61R;ENSG00000177426:ENST00000400167:exon2:c.A182G:p.Q61R;ENSG00000177426:ENST00000577543:exon2:c.A242G:p.Q81R;ENSG00000177426:ENST00000551402:exon2:c.A242G:p.Q81R;ENSG00000177426:ENST00000548489:exon2:c.A284G:p.Q95R;ENSG00000177426:ENST00000550958:exon3:c.A182G:p.Q61R;ENSG00000177426:ENST00000343820:exon2:c.A242G:p.Q81R;ENSG00000177426:ENST00000549780:exon2:c.A182G:p.Q61R;ENSG00000177426:ENST00000551333:exon2:c.A182G:p.Q61R;ENSG00000177426:ENST00000552383:exon3:c.A182G:p.Q61R;ENSG00000177426:ENST00000407501:exon3:c.A242G:p.Q81R;ENSG00000177426:ENST00000549468:exon2:c.A182G:p.Q61R;ENSG00000177426:ENST00000546979:exon3:c.A242G:p.Q81R;ENSG00000177426:ENST00000549546:exon2:c.A182G:p.Q61R;ENSG00000177426:ENST00000345133:exon2:c.A182G:p.Q61R;ENSG00000177426:ENST00000472042:exon1:c.A182G:p.Q61R;ENSG00000177426:ENST00000405385:exon2:c.A182G:p.Q61R;ENSG00000177426:ENST00000549253:exon2:c.A182G:p.Q61R;	0.998962429370332	1.0
18	3456577	A	T	18	3456579	y	n	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.A242T:p.Q81L;TGIF1:NM_170695:exon2:c.A629T:p.Q210L;TGIF1:NM_001278684:exon3:c.A242T:p.Q81L;TGIF1:NM_174886:exon3:c.A182T:p.Q61L;TGIF1:NM_173209:exon2:c.A182T:p.Q61L;TGIF1:NM_173211:exon2:c.A182T:p.Q61L;TGIF1:NM_173207:exon2:c.A284T:p.Q95L;TGIF1:NM_001278686:exon3:c.A182T:p.Q61L;TGIF1:NM_173210:exon2:c.A182T:p.Q61L;TGIF1:NM_001278682:exon2:c.A251T:p.Q84L;TGIF1:NM_003244:exon2:c.A242T:p.Q81L;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon3:c.A182T:p.Q61L;ENSG00000177426:ENST00000330513:exon2:c.A629T:p.Q210L;ENSG00000177426:ENST00000551541:exon2:c.A182T:p.Q61L;ENSG00000177426:ENST00000400167:exon2:c.A182T:p.Q61L;ENSG00000177426:ENST00000577543:exon2:c.A242T:p.Q81L;ENSG00000177426:ENST00000551402:exon2:c.A242T:p.Q81L;ENSG00000177426:ENST00000548489:exon2:c.A284T:p.Q95L;ENSG00000177426:ENST00000550958:exon3:c.A182T:p.Q61L;ENSG00000177426:ENST00000343820:exon2:c.A242T:p.Q81L;ENSG00000177426:ENST00000549780:exon2:c.A182T:p.Q61L;ENSG00000177426:ENST00000551333:exon2:c.A182T:p.Q61L;ENSG00000177426:ENST00000552383:exon3:c.A182T:p.Q61L;ENSG00000177426:ENST00000407501:exon3:c.A242T:p.Q81L;ENSG00000177426:ENST00000549468:exon2:c.A182T:p.Q61L;ENSG00000177426:ENST00000546979:exon3:c.A242T:p.Q81L;ENSG00000177426:ENST00000549546:exon2:c.A182T:p.Q61L;ENSG00000177426:ENST00000345133:exon2:c.A182T:p.Q61L;ENSG00000177426:ENST00000472042:exon1:c.A182T:p.Q61L;ENSG00000177426:ENST00000405385:exon2:c.A182T:p.Q61L;ENSG00000177426:ENST00000549253:exon2:c.A182T:p.Q61L;	0.999727356442416	0.996
18	3456578	G	A	18	3456580	y	n	exonic	TGIF1	synonymous SNV	TGIF1:NM_173208:exon3:c.G243A:p.Q81Q;TGIF1:NM_170695:exon2:c.G630A:p.Q210Q;TGIF1:NM_001278684:exon3:c.G243A:p.Q81Q;TGIF1:NM_174886:exon3:c.G183A:p.Q61Q;TGIF1:NM_173209:exon2:c.G183A:p.Q61Q;TGIF1:NM_173211:exon2:c.G183A:p.Q61Q;TGIF1:NM_173207:exon2:c.G285A:p.Q95Q;TGIF1:NM_001278686:exon3:c.G183A:p.Q61Q;TGIF1:NM_173210:exon2:c.G183A:p.Q61Q;TGIF1:NM_001278682:exon2:c.G252A:p.Q84Q;TGIF1:NM_003244:exon2:c.G243A:p.Q81Q;	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000401449:exon3:c.G183A:p.Q61Q;ENSG00000177426:ENST00000330513:exon2:c.G630A:p.Q210Q;ENSG00000177426:ENST00000551541:exon2:c.G183A:p.Q61Q;ENSG00000177426:ENST00000400167:exon2:c.G183A:p.Q61Q;ENSG00000177426:ENST00000577543:exon2:c.G243A:p.Q81Q;ENSG00000177426:ENST00000551402:exon2:c.G243A:p.Q81Q;ENSG00000177426:ENST00000548489:exon2:c.G285A:p.Q95Q;ENSG00000177426:ENST00000550958:exon3:c.G183A:p.Q61Q;ENSG00000177426:ENST00000343820:exon2:c.G243A:p.Q81Q;ENSG00000177426:ENST00000549780:exon2:c.G183A:p.Q61Q;ENSG00000177426:ENST00000551333:exon2:c.G183A:p.Q61Q;ENSG00000177426:ENST00000552383:exon3:c.G183A:p.Q61Q;ENSG00000177426:ENST00000407501:exon3:c.G243A:p.Q81Q;ENSG00000177426:ENST00000549468:exon2:c.G183A:p.Q61Q;ENSG00000177426:ENST00000546979:exon3:c.G243A:p.Q81Q;ENSG00000177426:ENST00000549546:exon2:c.G183A:p.Q61Q;ENSG00000177426:ENST00000345133:exon2:c.G183A:p.Q61Q;ENSG00000177426:ENST00000472042:exon1:c.G183A:p.Q61Q;ENSG00000177426:ENST00000405385:exon2:c.G183A:p.Q61Q;ENSG00000177426:ENST00000549253:exon2:c.G183A:p.Q61Q;	0.999801405891647	0.944
18	3456578	G	C	18	3456580	y	n	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.G243C:p.Q81H;TGIF1:NM_170695:exon2:c.G630C:p.Q210H;TGIF1:NM_001278684:exon3:c.G243C:p.Q81H;TGIF1:NM_174886:exon3:c.G183C:p.Q61H;TGIF1:NM_173209:exon2:c.G183C:p.Q61H;TGIF1:NM_173211:exon2:c.G183C:p.Q61H;TGIF1:NM_173207:exon2:c.G285C:p.Q95H;TGIF1:NM_001278686:exon3:c.G183C:p.Q61H;TGIF1:NM_173210:exon2:c.G183C:p.Q61H;TGIF1:NM_001278682:exon2:c.G252C:p.Q84H;TGIF1:NM_003244:exon2:c.G243C:p.Q81H;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon3:c.G183C:p.Q61H;ENSG00000177426:ENST00000330513:exon2:c.G630C:p.Q210H;ENSG00000177426:ENST00000551541:exon2:c.G183C:p.Q61H;ENSG00000177426:ENST00000400167:exon2:c.G183C:p.Q61H;ENSG00000177426:ENST00000577543:exon2:c.G243C:p.Q81H;ENSG00000177426:ENST00000551402:exon2:c.G243C:p.Q81H;ENSG00000177426:ENST00000548489:exon2:c.G285C:p.Q95H;ENSG00000177426:ENST00000550958:exon3:c.G183C:p.Q61H;ENSG00000177426:ENST00000343820:exon2:c.G243C:p.Q81H;ENSG00000177426:ENST00000549780:exon2:c.G183C:p.Q61H;ENSG00000177426:ENST00000551333:exon2:c.G183C:p.Q61H;ENSG00000177426:ENST00000552383:exon3:c.G183C:p.Q61H;ENSG00000177426:ENST00000407501:exon3:c.G243C:p.Q81H;ENSG00000177426:ENST00000549468:exon2:c.G183C:p.Q61H;ENSG00000177426:ENST00000546979:exon3:c.G243C:p.Q81H;ENSG00000177426:ENST00000549546:exon2:c.G183C:p.Q61H;ENSG00000177426:ENST00000345133:exon2:c.G183C:p.Q61H;ENSG00000177426:ENST00000472042:exon1:c.G183C:p.Q61H;ENSG00000177426:ENST00000405385:exon2:c.G183C:p.Q61H;ENSG00000177426:ENST00000549253:exon2:c.G183C:p.Q61H;	0.999995206377273	0.998
18	3456578	G	T	18	3456580	y	n	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon3:c.G243T:p.Q81H;TGIF1:NM_170695:exon2:c.G630T:p.Q210H;TGIF1:NM_001278684:exon3:c.G243T:p.Q81H;TGIF1:NM_174886:exon3:c.G183T:p.Q61H;TGIF1:NM_173209:exon2:c.G183T:p.Q61H;TGIF1:NM_173211:exon2:c.G183T:p.Q61H;TGIF1:NM_173207:exon2:c.G285T:p.Q95H;TGIF1:NM_001278686:exon3:c.G183T:p.Q61H;TGIF1:NM_173210:exon2:c.G183T:p.Q61H;TGIF1:NM_001278682:exon2:c.G252T:p.Q84H;TGIF1:NM_003244:exon2:c.G243T:p.Q81H;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon3:c.G183T:p.Q61H;ENSG00000177426:ENST00000330513:exon2:c.G630T:p.Q210H;ENSG00000177426:ENST00000551541:exon2:c.G183T:p.Q61H;ENSG00000177426:ENST00000400167:exon2:c.G183T:p.Q61H;ENSG00000177426:ENST00000577543:exon2:c.G243T:p.Q81H;ENSG00000177426:ENST00000551402:exon2:c.G243T:p.Q81H;ENSG00000177426:ENST00000548489:exon2:c.G285T:p.Q95H;ENSG00000177426:ENST00000550958:exon3:c.G183T:p.Q61H;ENSG00000177426:ENST00000343820:exon2:c.G243T:p.Q81H;ENSG00000177426:ENST00000549780:exon2:c.G183T:p.Q61H;ENSG00000177426:ENST00000551333:exon2:c.G183T:p.Q61H;ENSG00000177426:ENST00000552383:exon3:c.G183T:p.Q61H;ENSG00000177426:ENST00000407501:exon3:c.G243T:p.Q81H;ENSG00000177426:ENST00000549468:exon2:c.G183T:p.Q61H;ENSG00000177426:ENST00000546979:exon3:c.G243T:p.Q81H;ENSG00000177426:ENST00000549546:exon2:c.G183T:p.Q61H;ENSG00000177426:ENST00000345133:exon2:c.G183T:p.Q61H;ENSG00000177426:ENST00000472042:exon1:c.G183T:p.Q61H;ENSG00000177426:ENST00000405385:exon2:c.G183T:p.Q61H;ENSG00000177426:ENST00000549253:exon2:c.G183T:p.Q61H;	0.99996005546188	0.978
18	3456579	G	A	18	3456581	y	n	splicing	TGIF1(NM_174886:exon3:c.183+1G>A;NM_001278686:exon3:c.183+1G>A;NM_173207:exon2:c.285+1G>A;NM_001278682:exon2:c.252+1G>A;NM_173209:exon2:c.183+1G>A;NM_173208:exon3:c.243+1G>A;NM_001278684:exon3:c.243+1G>A;NM_003244:exon2:c.243+1G>A;NM_170695:exon2:c.630+1G>A;NM_173210:exon2:c.183+1G>A;NM_173211:exon2:c.183+1G>A)	.	.	exonic;splicing	ENSG00000177426;ENSG00000177426(ENST00000552383:exon3:c.183+1G>A;ENST00000401449:exon3:c.183+1G>A;ENST00000550958:exon3:c.183+1G>A;ENST00000548489:exon2:c.285+1G>A;ENST00000549780:exon2:c.183+1G>A;ENST00000549253:exon2:c.183+1G>A;ENST00000343820:exon2:c.243+1G>A;ENST00000407501:exon3:c.243+1G>A;ENST00000405385:exon2:c.183+1G>A;ENST00000546979:exon3:c.243+1G>A;ENST00000577543:exon2:c.243+1G>A;ENST00000551541:exon2:c.183+1G>A;ENST00000345133:exon2:c.183+1G>A;ENST00000330513:exon2:c.630+1G>A;ENST00000549546:exon2:c.183+1G>A;ENST00000400167:exon2:c.183+1G>A;ENST00000549468:exon2:c.183+1G>A;ENST00000551333:exon2:c.183+1G>A;ENST00000472042:exon1:c.183+1G>A)	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.G244A:p.V82I;	0.999969620222061	0.844
18	3456579	G	C	18	3456581	y	n	splicing	TGIF1(NM_174886:exon3:c.183+1G>C;NM_001278686:exon3:c.183+1G>C;NM_173207:exon2:c.285+1G>C;NM_001278682:exon2:c.252+1G>C;NM_173209:exon2:c.183+1G>C;NM_173208:exon3:c.243+1G>C;NM_001278684:exon3:c.243+1G>C;NM_003244:exon2:c.243+1G>C;NM_170695:exon2:c.630+1G>C;NM_173210:exon2:c.183+1G>C;NM_173211:exon2:c.183+1G>C)	.	.	exonic;splicing	ENSG00000177426;ENSG00000177426(ENST00000552383:exon3:c.183+1G>C;ENST00000401449:exon3:c.183+1G>C;ENST00000550958:exon3:c.183+1G>C;ENST00000548489:exon2:c.285+1G>C;ENST00000549780:exon2:c.183+1G>C;ENST00000549253:exon2:c.183+1G>C;ENST00000343820:exon2:c.243+1G>C;ENST00000407501:exon3:c.243+1G>C;ENST00000405385:exon2:c.183+1G>C;ENST00000546979:exon3:c.243+1G>C;ENST00000577543:exon2:c.243+1G>C;ENST00000551541:exon2:c.183+1G>C;ENST00000345133:exon2:c.183+1G>C;ENST00000330513:exon2:c.630+1G>C;ENST00000549546:exon2:c.183+1G>C;ENST00000400167:exon2:c.183+1G>C;ENST00000549468:exon2:c.183+1G>C;ENST00000551333:exon2:c.183+1G>C;ENST00000472042:exon1:c.183+1G>C)	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.G244C:p.V82L;	0.999969620222061	0.814
18	3456579	G	T	18	3456581	y	n	splicing	TGIF1(NM_174886:exon3:c.183+1G>T;NM_001278686:exon3:c.183+1G>T;NM_173207:exon2:c.285+1G>T;NM_001278682:exon2:c.252+1G>T;NM_173209:exon2:c.183+1G>T;NM_173208:exon3:c.243+1G>T;NM_001278684:exon3:c.243+1G>T;NM_003244:exon2:c.243+1G>T;NM_170695:exon2:c.630+1G>T;NM_173210:exon2:c.183+1G>T;NM_173211:exon2:c.183+1G>T)	.	.	exonic;splicing	ENSG00000177426;ENSG00000177426(ENST00000552383:exon3:c.183+1G>T;ENST00000401449:exon3:c.183+1G>T;ENST00000550958:exon3:c.183+1G>T;ENST00000548489:exon2:c.285+1G>T;ENST00000549780:exon2:c.183+1G>T;ENST00000549253:exon2:c.183+1G>T;ENST00000343820:exon2:c.243+1G>T;ENST00000407501:exon3:c.243+1G>T;ENST00000405385:exon2:c.183+1G>T;ENST00000546979:exon3:c.243+1G>T;ENST00000577543:exon2:c.243+1G>T;ENST00000551541:exon2:c.183+1G>T;ENST00000345133:exon2:c.183+1G>T;ENST00000330513:exon2:c.630+1G>T;ENST00000549546:exon2:c.183+1G>T;ENST00000400167:exon2:c.183+1G>T;ENST00000549468:exon2:c.183+1G>T;ENST00000551333:exon2:c.183+1G>T;ENST00000472042:exon1:c.183+1G>T)	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.G244T:p.V82L;	0.999969620222061	0.82
18	3456580	T	A	18	3456582	y	n	splicing	TGIF1(NM_174886:exon3:c.183+2T>A;NM_001278686:exon3:c.183+2T>A;NM_173207:exon2:c.285+2T>A;NM_001278682:exon2:c.252+2T>A;NM_173209:exon2:c.183+2T>A;NM_173208:exon3:c.243+2T>A;NM_001278684:exon3:c.243+2T>A;NM_003244:exon2:c.243+2T>A;NM_170695:exon2:c.630+2T>A;NM_173210:exon2:c.183+2T>A;NM_173211:exon2:c.183+2T>A)	.	.	exonic;splicing	ENSG00000177426;ENSG00000177426(ENST00000552383:exon3:c.183+2T>A;ENST00000401449:exon3:c.183+2T>A;ENST00000550958:exon3:c.183+2T>A;ENST00000548489:exon2:c.285+2T>A;ENST00000549780:exon2:c.183+2T>A;ENST00000549253:exon2:c.183+2T>A;ENST00000343820:exon2:c.243+2T>A;ENST00000407501:exon3:c.243+2T>A;ENST00000405385:exon2:c.183+2T>A;ENST00000546979:exon3:c.243+2T>A;ENST00000577543:exon2:c.243+2T>A;ENST00000551541:exon2:c.183+2T>A;ENST00000345133:exon2:c.183+2T>A;ENST00000330513:exon2:c.630+2T>A;ENST00000549546:exon2:c.183+2T>A;ENST00000400167:exon2:c.183+2T>A;ENST00000549468:exon2:c.183+2T>A;ENST00000551333:exon2:c.183+2T>A;ENST00000472042:exon1:c.183+2T>A)	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.T245A:p.V82E;	0.999989378869813	0.76
18	3456580	T	C	18	3456582	y	n	splicing	TGIF1(NM_174886:exon3:c.183+2T>C;NM_001278686:exon3:c.183+2T>C;NM_173207:exon2:c.285+2T>C;NM_001278682:exon2:c.252+2T>C;NM_173209:exon2:c.183+2T>C;NM_173208:exon3:c.243+2T>C;NM_001278684:exon3:c.243+2T>C;NM_003244:exon2:c.243+2T>C;NM_170695:exon2:c.630+2T>C;NM_173210:exon2:c.183+2T>C;NM_173211:exon2:c.183+2T>C)	.	.	exonic;splicing	ENSG00000177426;ENSG00000177426(ENST00000552383:exon3:c.183+2T>C;ENST00000401449:exon3:c.183+2T>C;ENST00000550958:exon3:c.183+2T>C;ENST00000548489:exon2:c.285+2T>C;ENST00000549780:exon2:c.183+2T>C;ENST00000549253:exon2:c.183+2T>C;ENST00000343820:exon2:c.243+2T>C;ENST00000407501:exon3:c.243+2T>C;ENST00000405385:exon2:c.183+2T>C;ENST00000546979:exon3:c.243+2T>C;ENST00000577543:exon2:c.243+2T>C;ENST00000551541:exon2:c.183+2T>C;ENST00000345133:exon2:c.183+2T>C;ENST00000330513:exon2:c.630+2T>C;ENST00000549546:exon2:c.183+2T>C;ENST00000400167:exon2:c.183+2T>C;ENST00000549468:exon2:c.183+2T>C;ENST00000551333:exon2:c.183+2T>C;ENST00000472042:exon1:c.183+2T>C)	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.T245C:p.V82A;	0.956121918581956	0.556
18	3456580	T	G	18	3456582	y	n	splicing	TGIF1(NM_174886:exon3:c.183+2T>G;NM_001278686:exon3:c.183+2T>G;NM_173207:exon2:c.285+2T>G;NM_001278682:exon2:c.252+2T>G;NM_173209:exon2:c.183+2T>G;NM_173208:exon3:c.243+2T>G;NM_001278684:exon3:c.243+2T>G;NM_003244:exon2:c.243+2T>G;NM_170695:exon2:c.630+2T>G;NM_173210:exon2:c.183+2T>G;NM_173211:exon2:c.183+2T>G)	.	.	exonic;splicing	ENSG00000177426;ENSG00000177426(ENST00000552383:exon3:c.183+2T>G;ENST00000401449:exon3:c.183+2T>G;ENST00000550958:exon3:c.183+2T>G;ENST00000548489:exon2:c.285+2T>G;ENST00000549780:exon2:c.183+2T>G;ENST00000549253:exon2:c.183+2T>G;ENST00000343820:exon2:c.243+2T>G;ENST00000407501:exon3:c.243+2T>G;ENST00000405385:exon2:c.183+2T>G;ENST00000546979:exon3:c.243+2T>G;ENST00000577543:exon2:c.243+2T>G;ENST00000551541:exon2:c.183+2T>G;ENST00000345133:exon2:c.183+2T>G;ENST00000330513:exon2:c.630+2T>G;ENST00000549546:exon2:c.183+2T>G;ENST00000400167:exon2:c.183+2T>G;ENST00000549468:exon2:c.183+2T>G;ENST00000551333:exon2:c.183+2T>G;ENST00000472042:exon1:c.183+2T>G)	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.T245G:p.V82G;	0.999989378869813	0.76
18	3456581	A	C	18	3456583	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A246C:p.V82V;	0.999152282723844	0.754
18	3456581	A	G	18	3456583	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A246G:p.V82V;	0.178903216702562	0.468
18	3456581	A	T	18	3456583	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A246T:p.V82V;	0.992557173679199	0.716
18	3456582	A	C	18	3456584	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A247C:p.K83Q;	0.553896972331552	0.43
18	3456582	A	G	18	3456584	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A247G:p.K83E;	0.286088955036792	0.52
18	3456582	A	T	18	3456584	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	stopgain SNV	ENSG00000177426:ENST00000551402:exon2:c.A247T:p.K83X;	0.999321900375687	0.904
18	3456583	A	C	18	3456585	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A248C:p.K83T;	7.35806563388382E-5	0.014
18	3456583	A	G	18	3456585	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A248G:p.K83R;	1.67551461533173E-5	0.012
18	3456583	A	T	18	3456585	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A248T:p.K83M;	7.83506916752932E-5	0.014
18	3456584	G	A	18	3456586	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	synonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.G249A:p.K83K;	4.95953860771878E-5	0.126
18	3456584	G	C	18	3456586	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.G249C:p.K83N;	1.46112121450043E-4	0.056
18	3456584	G	T	18	3456586	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.G249T:p.K83N;	5.25342370706319E-5	0.002
18	3456585	A	C	18	3456587	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A250C:p.K84Q;	7.53838751976699E-5	0.0
18	3456585	A	G	18	3456587	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A250G:p.K84E;	1.44225400957569E-4	0.0
18	3456585	A	T	18	3456587	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	stopgain SNV	ENSG00000177426:ENST00000551402:exon2:c.A250T:p.K84X;	1.52124962420956E-4	0.028
18	3456586	A	C	18	3456588	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A251C:p.K84T;	4.04590715604386E-5	0.0
18	3456586	A	G	18	3456588	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A251G:p.K84R;	1.14215355829201E-4	0.002
18	3456586	A	T	18	3456588	y	n	intronic	TGIF1	.	.	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000551402:exon2:c.A251T:p.K84I;	1.17628836876554E-4	0.0
18	3457351	A	C	18	3457353	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.38533260594158E-5	0.094
18	3457351	A	G	18	3457353	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.4274001286313E-4	0.124
18	3457351	A	T	18	3457353	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.39191095639266E-5	0.1
18	3457352	T	A	18	3457354	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.0339999567346186	0.446
18	3457352	T	C	18	3457354	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.56826039749613E-4	0.288
18	3457352	T	G	18	3457354	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.999854513251925	0.818
18	3457353	A	C	18	3457355	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.71360842242769E-5	0.03
18	3457353	A	G	18	3457355	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.73158655072938E-5	0.122
18	3457353	A	T	18	3457355	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	3.91405392678794E-5	0.03
18	3457354	T	A	18	3457356	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.999884550547126	0.948
18	3457354	T	C	18	3457356	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	7.71549135152546E-5	0.074
18	3457354	T	G	18	3457356	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.999896943545993	0.928
18	3457355	G	A	18	3457357	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.76584065691996E-4	0.086
18	3457355	G	C	18	3457357	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.71624217258625E-4	0.118
18	3457355	G	T	18	3457357	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.52990665017939E-4	0.118
18	3457356	A	C	18	3457358	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.43278236921837E-5	0.032
18	3457356	A	G	18	3457358	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	8.34958994751726E-5	0.03
18	3457356	A	T	18	3457358	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.43442024906232E-5	0.024
18	3457357	T	A	18	3457359	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.416235019727393	0.524
18	3457357	T	C	18	3457359	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	4.72931634601594E-4	0.18
18	3457357	T	G	18	3457359	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.99992687966227	0.922
18	3457358	T	A	18	3457360	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.980630910844089	0.598
18	3457358	T	C	18	3457360	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.0302030483680922	0.396
18	3457358	T	G	18	3457360	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.980630910844089	0.57
18	3457359	T	A	18	3457361	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.879920431906E-5	0.03
18	3457359	T	C	18	3457361	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	6.23096651106828E-6	0.006
18	3457359	T	G	18	3457361	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	1.25941810082708E-4	0.062
18	3457360	C	A	18	3457362	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.995522988683604	0.748
18	3457360	C	G	18	3457362	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.999850030435334	0.732
18	3457360	C	T	18	3457362	y	y	intronic	TGIF1	.	.	intronic	ENSG00000177426	.	.	0.021850235837792	0.396
18	3457361	A	C	18	3457363	y	y	splicing	TGIF1(NM_174886:exon4:c.184-2A>C;NM_001278686:exon4:c.184-2A>C;NM_173207:exon3:c.286-2A>C;NM_001278682:exon3:c.253-2A>C;NM_173209:exon3:c.184-2A>C;NM_173208:exon4:c.244-2A>C;NM_001278684:exon4:c.244-2A>C;NM_003244:exon3:c.244-2A>C;NM_170695:exon3:c.631-2A>C;NM_173210:exon3:c.184-2A>C;NM_173211:exon3:c.184-2A>C)	.	.	splicing	ENSG00000177426(ENST00000552383:exon4:c.184-2A>C;ENST00000401449:exon4:c.184-2A>C;ENST00000550958:exon4:c.184-2A>C;ENST00000548489:exon3:c.286-2A>C;ENST00000549780:exon3:c.184-2A>C;ENST00000549253:exon3:c.184-2A>C;ENST00000343820:exon3:c.244-2A>C;ENST00000407501:exon4:c.244-2A>C;ENST00000405385:exon3:c.184-2A>C;ENST00000546979:exon4:c.244-2A>C;ENST00000551541:exon3:c.184-2A>C;ENST00000345133:exon3:c.184-2A>C;ENST00000330513:exon3:c.631-2A>C;ENST00000549546:exon3:c.184-2A>C;ENST00000400167:exon3:c.184-2A>C;ENST00000549468:exon3:c.184-2A>C;ENST00000551333:exon3:c.184-2A>C;ENST00000472042:exon2:c.184-2A>C)	.	.	0.99993872479901	0.936
18	3457361	A	G	18	3457363	y	y	splicing	TGIF1(NM_174886:exon4:c.184-2A>G;NM_001278686:exon4:c.184-2A>G;NM_173207:exon3:c.286-2A>G;NM_001278682:exon3:c.253-2A>G;NM_173209:exon3:c.184-2A>G;NM_173208:exon4:c.244-2A>G;NM_001278684:exon4:c.244-2A>G;NM_003244:exon3:c.244-2A>G;NM_170695:exon3:c.631-2A>G;NM_173210:exon3:c.184-2A>G;NM_173211:exon3:c.184-2A>G)	.	.	splicing	ENSG00000177426(ENST00000552383:exon4:c.184-2A>G;ENST00000401449:exon4:c.184-2A>G;ENST00000550958:exon4:c.184-2A>G;ENST00000548489:exon3:c.286-2A>G;ENST00000549780:exon3:c.184-2A>G;ENST00000549253:exon3:c.184-2A>G;ENST00000343820:exon3:c.244-2A>G;ENST00000407501:exon4:c.244-2A>G;ENST00000405385:exon3:c.184-2A>G;ENST00000546979:exon4:c.244-2A>G;ENST00000551541:exon3:c.184-2A>G;ENST00000345133:exon3:c.184-2A>G;ENST00000330513:exon3:c.631-2A>G;ENST00000549546:exon3:c.184-2A>G;ENST00000400167:exon3:c.184-2A>G;ENST00000549468:exon3:c.184-2A>G;ENST00000551333:exon3:c.184-2A>G;ENST00000472042:exon2:c.184-2A>G)	.	.	0.99993872479901	0.936
18	3457361	A	T	18	3457363	y	y	splicing	TGIF1(NM_174886:exon4:c.184-2A>T;NM_001278686:exon4:c.184-2A>T;NM_173207:exon3:c.286-2A>T;NM_001278682:exon3:c.253-2A>T;NM_173209:exon3:c.184-2A>T;NM_173208:exon4:c.244-2A>T;NM_001278684:exon4:c.244-2A>T;NM_003244:exon3:c.244-2A>T;NM_170695:exon3:c.631-2A>T;NM_173210:exon3:c.184-2A>T;NM_173211:exon3:c.184-2A>T)	.	.	splicing	ENSG00000177426(ENST00000552383:exon4:c.184-2A>T;ENST00000401449:exon4:c.184-2A>T;ENST00000550958:exon4:c.184-2A>T;ENST00000548489:exon3:c.286-2A>T;ENST00000549780:exon3:c.184-2A>T;ENST00000549253:exon3:c.184-2A>T;ENST00000343820:exon3:c.244-2A>T;ENST00000407501:exon4:c.244-2A>T;ENST00000405385:exon3:c.184-2A>T;ENST00000546979:exon4:c.244-2A>T;ENST00000551541:exon3:c.184-2A>T;ENST00000345133:exon3:c.184-2A>T;ENST00000330513:exon3:c.631-2A>T;ENST00000549546:exon3:c.184-2A>T;ENST00000400167:exon3:c.184-2A>T;ENST00000549468:exon3:c.184-2A>T;ENST00000551333:exon3:c.184-2A>T;ENST00000472042:exon2:c.184-2A>T)	.	.	0.99993872479901	0.934
18	3457362	G	A	18	3457364	y	y	splicing	TGIF1(NM_174886:exon4:c.184-1G>A;NM_001278686:exon4:c.184-1G>A;NM_173207:exon3:c.286-1G>A;NM_001278682:exon3:c.253-1G>A;NM_173209:exon3:c.184-1G>A;NM_173208:exon4:c.244-1G>A;NM_001278684:exon4:c.244-1G>A;NM_003244:exon3:c.244-1G>A;NM_170695:exon3:c.631-1G>A;NM_173210:exon3:c.184-1G>A;NM_173211:exon3:c.184-1G>A)	.	.	splicing	ENSG00000177426(ENST00000552383:exon4:c.184-1G>A;ENST00000401449:exon4:c.184-1G>A;ENST00000550958:exon4:c.184-1G>A;ENST00000548489:exon3:c.286-1G>A;ENST00000549780:exon3:c.184-1G>A;ENST00000549253:exon3:c.184-1G>A;ENST00000343820:exon3:c.244-1G>A;ENST00000407501:exon4:c.244-1G>A;ENST00000405385:exon3:c.184-1G>A;ENST00000546979:exon4:c.244-1G>A;ENST00000551541:exon3:c.184-1G>A;ENST00000345133:exon3:c.184-1G>A;ENST00000330513:exon3:c.631-1G>A;ENST00000549546:exon3:c.184-1G>A;ENST00000400167:exon3:c.184-1G>A;ENST00000549468:exon3:c.184-1G>A;ENST00000551333:exon3:c.184-1G>A;ENST00000472042:exon2:c.184-1G>A)	.	.	0.999989125585301	0.942
18	3457362	G	C	18	3457364	y	y	splicing	TGIF1(NM_174886:exon4:c.184-1G>C;NM_001278686:exon4:c.184-1G>C;NM_173207:exon3:c.286-1G>C;NM_001278682:exon3:c.253-1G>C;NM_173209:exon3:c.184-1G>C;NM_173208:exon4:c.244-1G>C;NM_001278684:exon4:c.244-1G>C;NM_003244:exon3:c.244-1G>C;NM_170695:exon3:c.631-1G>C;NM_173210:exon3:c.184-1G>C;NM_173211:exon3:c.184-1G>C)	.	.	splicing	ENSG00000177426(ENST00000552383:exon4:c.184-1G>C;ENST00000401449:exon4:c.184-1G>C;ENST00000550958:exon4:c.184-1G>C;ENST00000548489:exon3:c.286-1G>C;ENST00000549780:exon3:c.184-1G>C;ENST00000549253:exon3:c.184-1G>C;ENST00000343820:exon3:c.244-1G>C;ENST00000407501:exon4:c.244-1G>C;ENST00000405385:exon3:c.184-1G>C;ENST00000546979:exon4:c.244-1G>C;ENST00000551541:exon3:c.184-1G>C;ENST00000345133:exon3:c.184-1G>C;ENST00000330513:exon3:c.631-1G>C;ENST00000549546:exon3:c.184-1G>C;ENST00000400167:exon3:c.184-1G>C;ENST00000549468:exon3:c.184-1G>C;ENST00000551333:exon3:c.184-1G>C;ENST00000472042:exon2:c.184-1G>C)	.	.	0.999989125585301	0.942
18	3457362	G	T	18	3457364	y	y	splicing	TGIF1(NM_174886:exon4:c.184-1G>T;NM_001278686:exon4:c.184-1G>T;NM_173207:exon3:c.286-1G>T;NM_001278682:exon3:c.253-1G>T;NM_173209:exon3:c.184-1G>T;NM_173208:exon4:c.244-1G>T;NM_001278684:exon4:c.244-1G>T;NM_003244:exon3:c.244-1G>T;NM_170695:exon3:c.631-1G>T;NM_173210:exon3:c.184-1G>T;NM_173211:exon3:c.184-1G>T)	.	.	splicing	ENSG00000177426(ENST00000552383:exon4:c.184-1G>T;ENST00000401449:exon4:c.184-1G>T;ENST00000550958:exon4:c.184-1G>T;ENST00000548489:exon3:c.286-1G>T;ENST00000549780:exon3:c.184-1G>T;ENST00000549253:exon3:c.184-1G>T;ENST00000343820:exon3:c.244-1G>T;ENST00000407501:exon4:c.244-1G>T;ENST00000405385:exon3:c.184-1G>T;ENST00000546979:exon4:c.244-1G>T;ENST00000551541:exon3:c.184-1G>T;ENST00000345133:exon3:c.184-1G>T;ENST00000330513:exon3:c.631-1G>T;ENST00000549546:exon3:c.184-1G>T;ENST00000400167:exon3:c.184-1G>T;ENST00000549468:exon3:c.184-1G>T;ENST00000551333:exon3:c.184-1G>T;ENST00000472042:exon2:c.184-1G>T)	.	.	0.999989125585301	0.942
18	3457363	G	A	18	3457365	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon4:c.G244A:p.V82I;TGIF1:NM_170695:exon3:c.G631A:p.V211I;TGIF1:NM_001278684:exon4:c.G244A:p.V82I;TGIF1:NM_174886:exon4:c.G184A:p.V62I;TGIF1:NM_173209:exon3:c.G184A:p.V62I;TGIF1:NM_173211:exon3:c.G184A:p.V62I;TGIF1:NM_173207:exon3:c.G286A:p.V96I;TGIF1:NM_001278686:exon4:c.G184A:p.V62I;TGIF1:NM_173210:exon3:c.G184A:p.V62I;TGIF1:NM_001278682:exon3:c.G253A:p.V85I;TGIF1:NM_003244:exon3:c.G244A:p.V82I;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon4:c.G184A:p.V62I;ENSG00000177426:ENST00000330513:exon3:c.G631A:p.V211I;ENSG00000177426:ENST00000551541:exon3:c.G184A:p.V62I;ENSG00000177426:ENST00000400167:exon3:c.G184A:p.V62I;ENSG00000177426:ENST00000548489:exon3:c.G286A:p.V96I;ENSG00000177426:ENST00000550958:exon4:c.G184A:p.V62I;ENSG00000177426:ENST00000343820:exon3:c.G244A:p.V82I;ENSG00000177426:ENST00000549780:exon3:c.G184A:p.V62I;ENSG00000177426:ENST00000551333:exon3:c.G184A:p.V62I;ENSG00000177426:ENST00000552383:exon4:c.G184A:p.V62I;ENSG00000177426:ENST00000407501:exon4:c.G244A:p.V82I;ENSG00000177426:ENST00000549468:exon3:c.G184A:p.V62I;ENSG00000177426:ENST00000546979:exon4:c.G244A:p.V82I;ENSG00000177426:ENST00000549546:exon3:c.G184A:p.V62I;ENSG00000177426:ENST00000345133:exon3:c.G184A:p.V62I;ENSG00000177426:ENST00000472042:exon2:c.G184A:p.V62I;ENSG00000177426:ENST00000405385:exon3:c.G184A:p.V62I;ENSG00000177426:ENST00000549253:exon3:c.G184A:p.V62I;	0.438540178947266	0.486
18	3457363	G	C	18	3457365	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon4:c.G244C:p.V82L;TGIF1:NM_170695:exon3:c.G631C:p.V211L;TGIF1:NM_001278684:exon4:c.G244C:p.V82L;TGIF1:NM_174886:exon4:c.G184C:p.V62L;TGIF1:NM_173209:exon3:c.G184C:p.V62L;TGIF1:NM_173211:exon3:c.G184C:p.V62L;TGIF1:NM_173207:exon3:c.G286C:p.V96L;TGIF1:NM_001278686:exon4:c.G184C:p.V62L;TGIF1:NM_173210:exon3:c.G184C:p.V62L;TGIF1:NM_001278682:exon3:c.G253C:p.V85L;TGIF1:NM_003244:exon3:c.G244C:p.V82L;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon4:c.G184C:p.V62L;ENSG00000177426:ENST00000330513:exon3:c.G631C:p.V211L;ENSG00000177426:ENST00000551541:exon3:c.G184C:p.V62L;ENSG00000177426:ENST00000400167:exon3:c.G184C:p.V62L;ENSG00000177426:ENST00000548489:exon3:c.G286C:p.V96L;ENSG00000177426:ENST00000550958:exon4:c.G184C:p.V62L;ENSG00000177426:ENST00000343820:exon3:c.G244C:p.V82L;ENSG00000177426:ENST00000549780:exon3:c.G184C:p.V62L;ENSG00000177426:ENST00000551333:exon3:c.G184C:p.V62L;ENSG00000177426:ENST00000552383:exon4:c.G184C:p.V62L;ENSG00000177426:ENST00000407501:exon4:c.G244C:p.V82L;ENSG00000177426:ENST00000549468:exon3:c.G184C:p.V62L;ENSG00000177426:ENST00000546979:exon4:c.G244C:p.V82L;ENSG00000177426:ENST00000549546:exon3:c.G184C:p.V62L;ENSG00000177426:ENST00000345133:exon3:c.G184C:p.V62L;ENSG00000177426:ENST00000472042:exon2:c.G184C:p.V62L;ENSG00000177426:ENST00000405385:exon3:c.G184C:p.V62L;ENSG00000177426:ENST00000549253:exon3:c.G184C:p.V62L;	0.999919179842023	0.978
18	3457363	G	T	18	3457365	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon4:c.G244T:p.V82F;TGIF1:NM_170695:exon3:c.G631T:p.V211F;TGIF1:NM_001278684:exon4:c.G244T:p.V82F;TGIF1:NM_174886:exon4:c.G184T:p.V62F;TGIF1:NM_173209:exon3:c.G184T:p.V62F;TGIF1:NM_173211:exon3:c.G184T:p.V62F;TGIF1:NM_173207:exon3:c.G286T:p.V96F;TGIF1:NM_001278686:exon4:c.G184T:p.V62F;TGIF1:NM_173210:exon3:c.G184T:p.V62F;TGIF1:NM_001278682:exon3:c.G253T:p.V85F;TGIF1:NM_003244:exon3:c.G244T:p.V82F;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon4:c.G184T:p.V62F;ENSG00000177426:ENST00000330513:exon3:c.G631T:p.V211F;ENSG00000177426:ENST00000551541:exon3:c.G184T:p.V62F;ENSG00000177426:ENST00000400167:exon3:c.G184T:p.V62F;ENSG00000177426:ENST00000548489:exon3:c.G286T:p.V96F;ENSG00000177426:ENST00000550958:exon4:c.G184T:p.V62F;ENSG00000177426:ENST00000343820:exon3:c.G244T:p.V82F;ENSG00000177426:ENST00000549780:exon3:c.G184T:p.V62F;ENSG00000177426:ENST00000551333:exon3:c.G184T:p.V62F;ENSG00000177426:ENST00000552383:exon4:c.G184T:p.V62F;ENSG00000177426:ENST00000407501:exon4:c.G244T:p.V82F;ENSG00000177426:ENST00000549468:exon3:c.G184T:p.V62F;ENSG00000177426:ENST00000546979:exon4:c.G244T:p.V82F;ENSG00000177426:ENST00000549546:exon3:c.G184T:p.V62F;ENSG00000177426:ENST00000345133:exon3:c.G184T:p.V62F;ENSG00000177426:ENST00000472042:exon2:c.G184T:p.V62F;ENSG00000177426:ENST00000405385:exon3:c.G184T:p.V62F;ENSG00000177426:ENST00000549253:exon3:c.G184T:p.V62F;	0.999942314895824	0.996
18	3457364	T	A	18	3457366	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon4:c.T245A:p.V82D;TGIF1:NM_170695:exon3:c.T632A:p.V211D;TGIF1:NM_001278684:exon4:c.T245A:p.V82D;TGIF1:NM_174886:exon4:c.T185A:p.V62D;TGIF1:NM_173209:exon3:c.T185A:p.V62D;TGIF1:NM_173211:exon3:c.T185A:p.V62D;TGIF1:NM_173207:exon3:c.T287A:p.V96D;TGIF1:NM_001278686:exon4:c.T185A:p.V62D;TGIF1:NM_173210:exon3:c.T185A:p.V62D;TGIF1:NM_001278682:exon3:c.T254A:p.V85D;TGIF1:NM_003244:exon3:c.T245A:p.V82D;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon4:c.T185A:p.V62D;ENSG00000177426:ENST00000330513:exon3:c.T632A:p.V211D;ENSG00000177426:ENST00000551541:exon3:c.T185A:p.V62D;ENSG00000177426:ENST00000400167:exon3:c.T185A:p.V62D;ENSG00000177426:ENST00000548489:exon3:c.T287A:p.V96D;ENSG00000177426:ENST00000550958:exon4:c.T185A:p.V62D;ENSG00000177426:ENST00000343820:exon3:c.T245A:p.V82D;ENSG00000177426:ENST00000549780:exon3:c.T185A:p.V62D;ENSG00000177426:ENST00000551333:exon3:c.T185A:p.V62D;ENSG00000177426:ENST00000552383:exon4:c.T185A:p.V62D;ENSG00000177426:ENST00000407501:exon4:c.T245A:p.V82D;ENSG00000177426:ENST00000549468:exon3:c.T185A:p.V62D;ENSG00000177426:ENST00000546979:exon4:c.T245A:p.V82D;ENSG00000177426:ENST00000549546:exon3:c.T185A:p.V62D;ENSG00000177426:ENST00000345133:exon3:c.T185A:p.V62D;ENSG00000177426:ENST00000472042:exon2:c.T185A:p.V62D;ENSG00000177426:ENST00000405385:exon3:c.T185A:p.V62D;ENSG00000177426:ENST00000549253:exon3:c.T185A:p.V62D;	0.952624020974735	0.516
18	3457364	T	C	18	3457366	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon4:c.T245C:p.V82A;TGIF1:NM_170695:exon3:c.T632C:p.V211A;TGIF1:NM_001278684:exon4:c.T245C:p.V82A;TGIF1:NM_174886:exon4:c.T185C:p.V62A;TGIF1:NM_173209:exon3:c.T185C:p.V62A;TGIF1:NM_173211:exon3:c.T185C:p.V62A;TGIF1:NM_173207:exon3:c.T287C:p.V96A;TGIF1:NM_001278686:exon4:c.T185C:p.V62A;TGIF1:NM_173210:exon3:c.T185C:p.V62A;TGIF1:NM_001278682:exon3:c.T254C:p.V85A;TGIF1:NM_003244:exon3:c.T245C:p.V82A;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon4:c.T185C:p.V62A;ENSG00000177426:ENST00000330513:exon3:c.T632C:p.V211A;ENSG00000177426:ENST00000551541:exon3:c.T185C:p.V62A;ENSG00000177426:ENST00000400167:exon3:c.T185C:p.V62A;ENSG00000177426:ENST00000548489:exon3:c.T287C:p.V96A;ENSG00000177426:ENST00000550958:exon4:c.T185C:p.V62A;ENSG00000177426:ENST00000343820:exon3:c.T245C:p.V82A;ENSG00000177426:ENST00000549780:exon3:c.T185C:p.V62A;ENSG00000177426:ENST00000551333:exon3:c.T185C:p.V62A;ENSG00000177426:ENST00000552383:exon4:c.T185C:p.V62A;ENSG00000177426:ENST00000407501:exon4:c.T245C:p.V82A;ENSG00000177426:ENST00000549468:exon3:c.T185C:p.V62A;ENSG00000177426:ENST00000546979:exon4:c.T245C:p.V82A;ENSG00000177426:ENST00000549546:exon3:c.T185C:p.V62A;ENSG00000177426:ENST00000345133:exon3:c.T185C:p.V62A;ENSG00000177426:ENST00000472042:exon2:c.T185C:p.V62A;ENSG00000177426:ENST00000405385:exon3:c.T185C:p.V62A;ENSG00000177426:ENST00000549253:exon3:c.T185C:p.V62A;	0.900313108439013	0.544
18	3457364	T	G	18	3457366	y	y	exonic	TGIF1	nonsynonymous SNV	TGIF1:NM_173208:exon4:c.T245G:p.V82G;TGIF1:NM_170695:exon3:c.T632G:p.V211G;TGIF1:NM_001278684:exon4:c.T245G:p.V82G;TGIF1:NM_174886:exon4:c.T185G:p.V62G;TGIF1:NM_173209:exon3:c.T185G:p.V62G;TGIF1:NM_173211:exon3:c.T185G:p.V62G;TGIF1:NM_173207:exon3:c.T287G:p.V96G;TGIF1:NM_001278686:exon4:c.T185G:p.V62G;TGIF1:NM_173210:exon3:c.T185G:p.V62G;TGIF1:NM_001278682:exon3:c.T254G:p.V85G;TGIF1:NM_003244:exon3:c.T245G:p.V82G;	exonic	ENSG00000177426	nonsynonymous SNV	ENSG00000177426:ENST00000401449:exon4:c.T185G:p.V62G;ENSG00000177426:ENST00000330513:exon3:c.T632G:p.V211G;ENSG00000177426:ENST00000551541:exon3:c.T185G:p.V62G;ENSG00000177426:ENST00000400167:exon3:c.T185G:p.V62G;ENSG00000177426:ENST00000548489:exon3:c.T287G:p.V96G;ENSG00000177426:ENST00000550958:exon4:c.T185G:p.V62G;ENSG00000177426:ENST00000343820:exon3:c.T245G:p.V82G;ENSG00000177426:ENST00000549780:exon3:c.T185G:p.V62G;ENSG00000177426:ENST00000551333:exon3:c.T185G:p.V62G;ENSG00000177426:ENST00000552383:exon4:c.T185G:p.V62G;ENSG00000177426:ENST00000407501:exon4:c.T245G:p.V82G;ENSG00000177426:ENST00000549468:exon3:c.T185G:p.V62G;ENSG00000177426:ENST00000546979:exon4:c.T245G:p.V82G;ENSG00000177426:ENST00000549546:exon3:c.T185G:p.V62G;ENSG00000177426:ENST00000345133:exon3:c.T185G:p.V62G;ENSG00000177426:ENST00000472042:exon2:c.T185G:p.V62G;ENSG00000177426:ENST00000405385:exon3:c.T185G:p.V62G;ENSG00000177426:ENST00000549253:exon3:c.T185G:p.V62G;	0.885049785692147	0.466
18	3499391	T	A	18	3499393	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon11:c.A1850T:p.E617V;DLGAP1:NM_001003809:exon10:c.A1820T:p.E607V;DLGAP1:NM_001242762:exon10:c.A1778T:p.E593V;DLGAP1:NM_001242763:exon11:c.A1892T:p.E631V;DLGAP1:NM_004746:exon13:c.A2726T:p.E909V;DLGAP1:NM_001242764:exon10:c.A1844T:p.E615V;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon11:c.A1850T:p.E617V;ENSG00000170579:ENST00000581699:exon10:c.A1844T:p.E615V;ENSG00000170579:ENST00000400147:exon10:c.A1820T:p.E607V;ENSG00000170579:ENST00000584874:exon10:c.A2726T:p.E909V;ENSG00000170579:ENST00000315677:exon13:c.A2726T:p.E909V;ENSG00000170579:ENST00000400149:exon11:c.A1796T:p.E599V;ENSG00000170579:ENST00000400155:exon10:c.A1844T:p.E615V;ENSG00000170579:ENST00000400150:exon11:c.A1874T:p.E625V;ENSG00000170579:ENST00000534970:exon10:c.A1778T:p.E593V;	0.671724044611295	0.76
18	3499391	T	C	18	3499393	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon11:c.A1850G:p.E617G;DLGAP1:NM_001003809:exon10:c.A1820G:p.E607G;DLGAP1:NM_001242762:exon10:c.A1778G:p.E593G;DLGAP1:NM_001242763:exon11:c.A1892G:p.E631G;DLGAP1:NM_004746:exon13:c.A2726G:p.E909G;DLGAP1:NM_001242764:exon10:c.A1844G:p.E615G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon11:c.A1850G:p.E617G;ENSG00000170579:ENST00000581699:exon10:c.A1844G:p.E615G;ENSG00000170579:ENST00000400147:exon10:c.A1820G:p.E607G;ENSG00000170579:ENST00000584874:exon10:c.A2726G:p.E909G;ENSG00000170579:ENST00000315677:exon13:c.A2726G:p.E909G;ENSG00000170579:ENST00000400149:exon11:c.A1796G:p.E599G;ENSG00000170579:ENST00000400155:exon10:c.A1844G:p.E615G;ENSG00000170579:ENST00000400150:exon11:c.A1874G:p.E625G;ENSG00000170579:ENST00000534970:exon10:c.A1778G:p.E593G;	0.764381175755018	0.718
18	3499391	T	G	18	3499393	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon11:c.A1850C:p.E617A;DLGAP1:NM_001003809:exon10:c.A1820C:p.E607A;DLGAP1:NM_001242762:exon10:c.A1778C:p.E593A;DLGAP1:NM_001242763:exon11:c.A1892C:p.E631A;DLGAP1:NM_004746:exon13:c.A2726C:p.E909A;DLGAP1:NM_001242764:exon10:c.A1844C:p.E615A;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon11:c.A1850C:p.E617A;ENSG00000170579:ENST00000581699:exon10:c.A1844C:p.E615A;ENSG00000170579:ENST00000400147:exon10:c.A1820C:p.E607A;ENSG00000170579:ENST00000584874:exon10:c.A2726C:p.E909A;ENSG00000170579:ENST00000315677:exon13:c.A2726C:p.E909A;ENSG00000170579:ENST00000400149:exon11:c.A1796C:p.E599A;ENSG00000170579:ENST00000400155:exon10:c.A1844C:p.E615A;ENSG00000170579:ENST00000400150:exon11:c.A1874C:p.E625A;ENSG00000170579:ENST00000534970:exon10:c.A1778C:p.E593A;	0.680394668602018	0.756
18	3499392	C	A	18	3499394	y	y	exonic	DLGAP1	stopgain SNV	DLGAP1:NM_001242766:exon11:c.G1849T:p.E617X;DLGAP1:NM_001003809:exon10:c.G1819T:p.E607X;DLGAP1:NM_001242762:exon10:c.G1777T:p.E593X;DLGAP1:NM_001242763:exon11:c.G1891T:p.E631X;DLGAP1:NM_004746:exon13:c.G2725T:p.E909X;DLGAP1:NM_001242764:exon10:c.G1843T:p.E615X;	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000539435:exon11:c.G1849T:p.E617X;ENSG00000170579:ENST00000581699:exon10:c.G1843T:p.E615X;ENSG00000170579:ENST00000400147:exon10:c.G1819T:p.E607X;ENSG00000170579:ENST00000584874:exon10:c.G2725T:p.E909X;ENSG00000170579:ENST00000315677:exon13:c.G2725T:p.E909X;ENSG00000170579:ENST00000400149:exon11:c.G1795T:p.E599X;ENSG00000170579:ENST00000400155:exon10:c.G1843T:p.E615X;ENSG00000170579:ENST00000400150:exon11:c.G1873T:p.E625X;ENSG00000170579:ENST00000534970:exon10:c.G1777T:p.E593X;	0.999915607790688	0.986
18	3499392	C	G	18	3499394	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon11:c.G1849C:p.E617Q;DLGAP1:NM_001003809:exon10:c.G1819C:p.E607Q;DLGAP1:NM_001242762:exon10:c.G1777C:p.E593Q;DLGAP1:NM_001242763:exon11:c.G1891C:p.E631Q;DLGAP1:NM_004746:exon13:c.G2725C:p.E909Q;DLGAP1:NM_001242764:exon10:c.G1843C:p.E615Q;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon11:c.G1849C:p.E617Q;ENSG00000170579:ENST00000581699:exon10:c.G1843C:p.E615Q;ENSG00000170579:ENST00000400147:exon10:c.G1819C:p.E607Q;ENSG00000170579:ENST00000584874:exon10:c.G2725C:p.E909Q;ENSG00000170579:ENST00000315677:exon13:c.G2725C:p.E909Q;ENSG00000170579:ENST00000400149:exon11:c.G1795C:p.E599Q;ENSG00000170579:ENST00000400155:exon10:c.G1843C:p.E615Q;ENSG00000170579:ENST00000400150:exon11:c.G1873C:p.E625Q;ENSG00000170579:ENST00000534970:exon10:c.G1777C:p.E593Q;	0.999884475783923	0.976
18	3499392	C	T	18	3499394	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon11:c.G1849A:p.E617K;DLGAP1:NM_001003809:exon10:c.G1819A:p.E607K;DLGAP1:NM_001242762:exon10:c.G1777A:p.E593K;DLGAP1:NM_001242763:exon11:c.G1891A:p.E631K;DLGAP1:NM_004746:exon13:c.G2725A:p.E909K;DLGAP1:NM_001242764:exon10:c.G1843A:p.E615K;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon11:c.G1849A:p.E617K;ENSG00000170579:ENST00000581699:exon10:c.G1843A:p.E615K;ENSG00000170579:ENST00000400147:exon10:c.G1819A:p.E607K;ENSG00000170579:ENST00000584874:exon10:c.G2725A:p.E909K;ENSG00000170579:ENST00000315677:exon13:c.G2725A:p.E909K;ENSG00000170579:ENST00000400149:exon11:c.G1795A:p.E599K;ENSG00000170579:ENST00000400155:exon10:c.G1843A:p.E615K;ENSG00000170579:ENST00000400150:exon11:c.G1873A:p.E625K;ENSG00000170579:ENST00000534970:exon10:c.G1777A:p.E593K;	0.9996463606682	0.91
18	3499393	C	A	18	3499395	y	y	splicing	DLGAP1(NM_004746:exon14:c.2725-1G>T;NM_001242766:exon12:c.1849-1G>T;NM_001242764:exon11:c.1843-1G>T;NM_001242763:exon12:c.1891-1G>T;NM_001242762:exon11:c.1777-1G>T;NM_001003809:exon11:c.1819-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon14:c.2725-1G>T;ENST00000400150:exon12:c.1873-1G>T;ENST00000400155:exon11:c.1843-1G>T;ENST00000400149:exon12:c.1795-1G>T;ENST00000400147:exon11:c.1819-1G>T;ENST00000584874:exon11:c.2725-1G>T;ENST00000534970:exon11:c.1777-1G>T;ENST00000539435:exon12:c.1849-1G>T;ENST00000581699:exon11:c.1843-1G>T)	.	.	0.999984967332678	0.946
18	3499393	C	G	18	3499395	y	y	splicing	DLGAP1(NM_004746:exon14:c.2725-1G>C;NM_001242766:exon12:c.1849-1G>C;NM_001242764:exon11:c.1843-1G>C;NM_001242763:exon12:c.1891-1G>C;NM_001242762:exon11:c.1777-1G>C;NM_001003809:exon11:c.1819-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon14:c.2725-1G>C;ENST00000400150:exon12:c.1873-1G>C;ENST00000400155:exon11:c.1843-1G>C;ENST00000400149:exon12:c.1795-1G>C;ENST00000400147:exon11:c.1819-1G>C;ENST00000584874:exon11:c.2725-1G>C;ENST00000534970:exon11:c.1777-1G>C;ENST00000539435:exon12:c.1849-1G>C;ENST00000581699:exon11:c.1843-1G>C)	.	.	0.999984967332678	0.946
18	3499393	C	T	18	3499395	y	y	splicing	DLGAP1(NM_004746:exon14:c.2725-1G>A;NM_001242766:exon12:c.1849-1G>A;NM_001242764:exon11:c.1843-1G>A;NM_001242763:exon12:c.1891-1G>A;NM_001242762:exon11:c.1777-1G>A;NM_001003809:exon11:c.1819-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon14:c.2725-1G>A;ENST00000400150:exon12:c.1873-1G>A;ENST00000400155:exon11:c.1843-1G>A;ENST00000400149:exon12:c.1795-1G>A;ENST00000400147:exon11:c.1819-1G>A;ENST00000584874:exon11:c.2725-1G>A;ENST00000534970:exon11:c.1777-1G>A;ENST00000539435:exon12:c.1849-1G>A;ENST00000581699:exon11:c.1843-1G>A)	.	.	0.999984967332678	0.946
18	3499394	T	A	18	3499396	y	y	splicing	DLGAP1(NM_004746:exon14:c.2725-2A>T;NM_001242766:exon12:c.1849-2A>T;NM_001242764:exon11:c.1843-2A>T;NM_001242763:exon12:c.1891-2A>T;NM_001242762:exon11:c.1777-2A>T;NM_001003809:exon11:c.1819-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon14:c.2725-2A>T;ENST00000400150:exon12:c.1873-2A>T;ENST00000400155:exon11:c.1843-2A>T;ENST00000400149:exon12:c.1795-2A>T;ENST00000400147:exon11:c.1819-2A>T;ENST00000584874:exon11:c.2725-2A>T;ENST00000534970:exon11:c.1777-2A>T;ENST00000539435:exon12:c.1849-2A>T;ENST00000581699:exon11:c.1843-2A>T)	.	.	0.999988624979899	0.938
18	3499394	T	C	18	3499396	y	y	splicing	DLGAP1(NM_004746:exon14:c.2725-2A>G;NM_001242766:exon12:c.1849-2A>G;NM_001242764:exon11:c.1843-2A>G;NM_001242763:exon12:c.1891-2A>G;NM_001242762:exon11:c.1777-2A>G;NM_001003809:exon11:c.1819-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon14:c.2725-2A>G;ENST00000400150:exon12:c.1873-2A>G;ENST00000400155:exon11:c.1843-2A>G;ENST00000400149:exon12:c.1795-2A>G;ENST00000400147:exon11:c.1819-2A>G;ENST00000584874:exon11:c.2725-2A>G;ENST00000534970:exon11:c.1777-2A>G;ENST00000539435:exon12:c.1849-2A>G;ENST00000581699:exon11:c.1843-2A>G)	.	.	0.999988624979899	0.938
18	3499394	T	G	18	3499396	y	y	splicing	DLGAP1(NM_004746:exon14:c.2725-2A>C;NM_001242766:exon12:c.1849-2A>C;NM_001242764:exon11:c.1843-2A>C;NM_001242763:exon12:c.1891-2A>C;NM_001242762:exon11:c.1777-2A>C;NM_001003809:exon11:c.1819-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon14:c.2725-2A>C;ENST00000400150:exon12:c.1873-2A>C;ENST00000400155:exon11:c.1843-2A>C;ENST00000400149:exon12:c.1795-2A>C;ENST00000400147:exon11:c.1819-2A>C;ENST00000584874:exon11:c.2725-2A>C;ENST00000534970:exon11:c.1777-2A>C;ENST00000539435:exon12:c.1849-2A>C;ENST00000581699:exon11:c.1843-2A>C)	.	.	0.999988624979899	0.938
18	3499395	G	A	18	3499397	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.913692543630008	0.38
18	3499395	G	C	18	3499397	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999962021405878	0.982
18	3499395	G	T	18	3499397	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999603686799321	0.946
18	3499396	A	C	18	3499398	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.973724210618946	0.544
18	3499396	A	G	18	3499398	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00509002823528423	0.028
18	3499396	A	T	18	3499398	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0293513252828133	0.172
18	3499397	T	A	18	3499399	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0034504823340233	0.12
18	3499397	T	C	18	3499399	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0449030639718704	0.184
18	3499397	T	G	18	3499399	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0024065803505314	0.076
18	3499398	C	A	18	3499400	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00222543074731914	0.052
18	3499398	C	G	18	3499400	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0012799297987559	0.06
18	3499398	C	T	18	3499400	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0524851519602725	0.09
18	3499399	A	C	18	3499401	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.992972273735737	0.898
18	3499399	A	G	18	3499401	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0113996554099097	0.276
18	3499399	A	T	18	3499401	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999876904303867	0.98
18	3499400	A	C	18	3499402	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.634498577198647	0.49
18	3499400	A	G	18	3499402	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00562167137335426	0.126
18	3499400	A	T	18	3499402	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.9607024302091	0.814
18	3499401	A	C	18	3499403	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.839002458027039	0.804
18	3499401	A	G	18	3499403	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.95398901205214E-4	0.042
18	3499401	A	T	18	3499403	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.76150808172135	0.816
18	3499402	G	A	18	3499404	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.47445234075777E-4	0.018
18	3499402	G	C	18	3499404	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0122645534929344	0.064
18	3499402	G	T	18	3499404	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00639606733720648	0.074
18	3499403	C	A	18	3499405	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0012799297987559	0.054
18	3499403	C	G	18	3499405	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00141932505660751	0.022
18	3499403	C	T	18	3499405	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.106937117199875	0.27
18	3499404	A	C	18	3499406	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.993233332420888	0.872
18	3499404	A	G	18	3499406	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00852331228322525	0.16
18	3499404	A	T	18	3499406	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999939551172294	0.976
18	3502642	T	A	18	3502644	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon12:c.A2573T:p.N858I;DLGAP1:NM_001242766:exon10:c.A1697T:p.N566I;DLGAP1:NM_001003809:exon9:c.A1667T:p.N556I;DLGAP1:NM_001242762:exon9:c.A1625T:p.N542I;DLGAP1:NM_001242763:exon10:c.A1739T:p.N580I;DLGAP1:NM_001242765:exon9:c.A1667T:p.N556I;DLGAP1:NM_004746:exon12:c.A2573T:p.N858I;DLGAP1:NM_001242764:exon9:c.A1691T:p.N564I;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon10:c.A1697T:p.N566I;ENSG00000170579:ENST00000515196:exon11:c.A2573T:p.N858I;ENSG00000170579:ENST00000581699:exon9:c.A1691T:p.N564I;ENSG00000170579:ENST00000400145:exon9:c.A1667T:p.N556I;ENSG00000170579:ENST00000400147:exon9:c.A1667T:p.N556I;ENSG00000170579:ENST00000584874:exon9:c.A2573T:p.N858I;ENSG00000170579:ENST00000315677:exon12:c.A2573T:p.N858I;ENSG00000170579:ENST00000400149:exon10:c.A1643T:p.N548I;ENSG00000170579:ENST00000400155:exon9:c.A1691T:p.N564I;ENSG00000170579:ENST00000581527:exon12:c.A2573T:p.N858I;ENSG00000170579:ENST00000400150:exon10:c.A1721T:p.N574I;ENSG00000170579:ENST00000534970:exon9:c.A1625T:p.N542I;	0.803152451398735	0.752
18	3502642	T	C	18	3502644	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon12:c.A2573G:p.N858S;DLGAP1:NM_001242766:exon10:c.A1697G:p.N566S;DLGAP1:NM_001003809:exon9:c.A1667G:p.N556S;DLGAP1:NM_001242762:exon9:c.A1625G:p.N542S;DLGAP1:NM_001242763:exon10:c.A1739G:p.N580S;DLGAP1:NM_001242765:exon9:c.A1667G:p.N556S;DLGAP1:NM_004746:exon12:c.A2573G:p.N858S;DLGAP1:NM_001242764:exon9:c.A1691G:p.N564S;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon10:c.A1697G:p.N566S;ENSG00000170579:ENST00000515196:exon11:c.A2573G:p.N858S;ENSG00000170579:ENST00000581699:exon9:c.A1691G:p.N564S;ENSG00000170579:ENST00000400145:exon9:c.A1667G:p.N556S;ENSG00000170579:ENST00000400147:exon9:c.A1667G:p.N556S;ENSG00000170579:ENST00000584874:exon9:c.A2573G:p.N858S;ENSG00000170579:ENST00000315677:exon12:c.A2573G:p.N858S;ENSG00000170579:ENST00000400149:exon10:c.A1643G:p.N548S;ENSG00000170579:ENST00000400155:exon9:c.A1691G:p.N564S;ENSG00000170579:ENST00000581527:exon12:c.A2573G:p.N858S;ENSG00000170579:ENST00000400150:exon10:c.A1721G:p.N574S;ENSG00000170579:ENST00000534970:exon9:c.A1625G:p.N542S;	0.711266459197234	0.488
18	3502642	T	G	18	3502644	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon12:c.A2573C:p.N858T;DLGAP1:NM_001242766:exon10:c.A1697C:p.N566T;DLGAP1:NM_001003809:exon9:c.A1667C:p.N556T;DLGAP1:NM_001242762:exon9:c.A1625C:p.N542T;DLGAP1:NM_001242763:exon10:c.A1739C:p.N580T;DLGAP1:NM_001242765:exon9:c.A1667C:p.N556T;DLGAP1:NM_004746:exon12:c.A2573C:p.N858T;DLGAP1:NM_001242764:exon9:c.A1691C:p.N564T;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon10:c.A1697C:p.N566T;ENSG00000170579:ENST00000515196:exon11:c.A2573C:p.N858T;ENSG00000170579:ENST00000581699:exon9:c.A1691C:p.N564T;ENSG00000170579:ENST00000400145:exon9:c.A1667C:p.N556T;ENSG00000170579:ENST00000400147:exon9:c.A1667C:p.N556T;ENSG00000170579:ENST00000584874:exon9:c.A2573C:p.N858T;ENSG00000170579:ENST00000315677:exon12:c.A2573C:p.N858T;ENSG00000170579:ENST00000400149:exon10:c.A1643C:p.N548T;ENSG00000170579:ENST00000400155:exon9:c.A1691C:p.N564T;ENSG00000170579:ENST00000581527:exon12:c.A2573C:p.N858T;ENSG00000170579:ENST00000400150:exon10:c.A1721C:p.N574T;ENSG00000170579:ENST00000534970:exon9:c.A1625C:p.N542T;	0.674456107841984	0.49
18	3502643	T	A	18	3502645	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon12:c.A2572T:p.N858Y;DLGAP1:NM_001242766:exon10:c.A1696T:p.N566Y;DLGAP1:NM_001003809:exon9:c.A1666T:p.N556Y;DLGAP1:NM_001242762:exon9:c.A1624T:p.N542Y;DLGAP1:NM_001242763:exon10:c.A1738T:p.N580Y;DLGAP1:NM_001242765:exon9:c.A1666T:p.N556Y;DLGAP1:NM_004746:exon12:c.A2572T:p.N858Y;DLGAP1:NM_001242764:exon9:c.A1690T:p.N564Y;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon10:c.A1696T:p.N566Y;ENSG00000170579:ENST00000515196:exon11:c.A2572T:p.N858Y;ENSG00000170579:ENST00000581699:exon9:c.A1690T:p.N564Y;ENSG00000170579:ENST00000400145:exon9:c.A1666T:p.N556Y;ENSG00000170579:ENST00000400147:exon9:c.A1666T:p.N556Y;ENSG00000170579:ENST00000584874:exon9:c.A2572T:p.N858Y;ENSG00000170579:ENST00000315677:exon12:c.A2572T:p.N858Y;ENSG00000170579:ENST00000400149:exon10:c.A1642T:p.N548Y;ENSG00000170579:ENST00000400155:exon9:c.A1690T:p.N564Y;ENSG00000170579:ENST00000581527:exon12:c.A2572T:p.N858Y;ENSG00000170579:ENST00000400150:exon10:c.A1720T:p.N574Y;ENSG00000170579:ENST00000534970:exon9:c.A1624T:p.N542Y;	0.43075126269515	0.494
18	3502643	T	C	18	3502645	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon12:c.A2572G:p.N858D;DLGAP1:NM_001242766:exon10:c.A1696G:p.N566D;DLGAP1:NM_001003809:exon9:c.A1666G:p.N556D;DLGAP1:NM_001242762:exon9:c.A1624G:p.N542D;DLGAP1:NM_001242763:exon10:c.A1738G:p.N580D;DLGAP1:NM_001242765:exon9:c.A1666G:p.N556D;DLGAP1:NM_004746:exon12:c.A2572G:p.N858D;DLGAP1:NM_001242764:exon9:c.A1690G:p.N564D;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon10:c.A1696G:p.N566D;ENSG00000170579:ENST00000515196:exon11:c.A2572G:p.N858D;ENSG00000170579:ENST00000581699:exon9:c.A1690G:p.N564D;ENSG00000170579:ENST00000400145:exon9:c.A1666G:p.N556D;ENSG00000170579:ENST00000400147:exon9:c.A1666G:p.N556D;ENSG00000170579:ENST00000584874:exon9:c.A2572G:p.N858D;ENSG00000170579:ENST00000315677:exon12:c.A2572G:p.N858D;ENSG00000170579:ENST00000400149:exon10:c.A1642G:p.N548D;ENSG00000170579:ENST00000400155:exon9:c.A1690G:p.N564D;ENSG00000170579:ENST00000581527:exon12:c.A2572G:p.N858D;ENSG00000170579:ENST00000400150:exon10:c.A1720G:p.N574D;ENSG00000170579:ENST00000534970:exon9:c.A1624G:p.N542D;	0.00157383370239577	0.016
18	3502643	T	G	18	3502645	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon12:c.A2572C:p.N858H;DLGAP1:NM_001242766:exon10:c.A1696C:p.N566H;DLGAP1:NM_001003809:exon9:c.A1666C:p.N556H;DLGAP1:NM_001242762:exon9:c.A1624C:p.N542H;DLGAP1:NM_001242763:exon10:c.A1738C:p.N580H;DLGAP1:NM_001242765:exon9:c.A1666C:p.N556H;DLGAP1:NM_004746:exon12:c.A2572C:p.N858H;DLGAP1:NM_001242764:exon9:c.A1690C:p.N564H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon10:c.A1696C:p.N566H;ENSG00000170579:ENST00000515196:exon11:c.A2572C:p.N858H;ENSG00000170579:ENST00000581699:exon9:c.A1690C:p.N564H;ENSG00000170579:ENST00000400145:exon9:c.A1666C:p.N556H;ENSG00000170579:ENST00000400147:exon9:c.A1666C:p.N556H;ENSG00000170579:ENST00000584874:exon9:c.A2572C:p.N858H;ENSG00000170579:ENST00000315677:exon12:c.A2572C:p.N858H;ENSG00000170579:ENST00000400149:exon10:c.A1642C:p.N548H;ENSG00000170579:ENST00000400155:exon9:c.A1690C:p.N564H;ENSG00000170579:ENST00000581527:exon12:c.A2572C:p.N858H;ENSG00000170579:ENST00000400150:exon10:c.A1720C:p.N574H;ENSG00000170579:ENST00000534970:exon9:c.A1624C:p.N542H;	0.31812267606107	0.462
18	3502644	C	A	18	3502646	y	y	splicing	DLGAP1(NM_004746:exon13:c.2572-1G>T;NM_001242766:exon11:c.1696-1G>T;NM_001242764:exon10:c.1690-1G>T;NM_001242763:exon11:c.1738-1G>T;NM_001242762:exon10:c.1624-1G>T;NM_001003809:exon10:c.1666-1G>T;NM_001242765:exon10:c.1666-1G>T;NM_001242761:exon13:c.2572-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon13:c.2572-1G>T;ENST00000400150:exon11:c.1720-1G>T;ENST00000400155:exon10:c.1690-1G>T;ENST00000400149:exon11:c.1642-1G>T;ENST00000400147:exon10:c.1666-1G>T;ENST00000584874:exon10:c.2572-1G>T;ENST00000534970:exon10:c.1624-1G>T;ENST00000539435:exon11:c.1696-1G>T;ENST00000581699:exon10:c.1690-1G>T;ENST00000400145:exon10:c.1666-1G>T;ENST00000515196:exon12:c.2572-1G>T;ENST00000581527:exon13:c.2572-1G>T)	.	.	0.999986675681007	0.932
18	3502644	C	G	18	3502646	y	y	splicing	DLGAP1(NM_004746:exon13:c.2572-1G>C;NM_001242766:exon11:c.1696-1G>C;NM_001242764:exon10:c.1690-1G>C;NM_001242763:exon11:c.1738-1G>C;NM_001242762:exon10:c.1624-1G>C;NM_001003809:exon10:c.1666-1G>C;NM_001242765:exon10:c.1666-1G>C;NM_001242761:exon13:c.2572-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon13:c.2572-1G>C;ENST00000400150:exon11:c.1720-1G>C;ENST00000400155:exon10:c.1690-1G>C;ENST00000400149:exon11:c.1642-1G>C;ENST00000400147:exon10:c.1666-1G>C;ENST00000584874:exon10:c.2572-1G>C;ENST00000534970:exon10:c.1624-1G>C;ENST00000539435:exon11:c.1696-1G>C;ENST00000581699:exon10:c.1690-1G>C;ENST00000400145:exon10:c.1666-1G>C;ENST00000515196:exon12:c.2572-1G>C;ENST00000581527:exon13:c.2572-1G>C)	.	.	0.999986675681007	0.932
18	3502644	C	T	18	3502646	y	y	splicing	DLGAP1(NM_004746:exon13:c.2572-1G>A;NM_001242766:exon11:c.1696-1G>A;NM_001242764:exon10:c.1690-1G>A;NM_001242763:exon11:c.1738-1G>A;NM_001242762:exon10:c.1624-1G>A;NM_001003809:exon10:c.1666-1G>A;NM_001242765:exon10:c.1666-1G>A;NM_001242761:exon13:c.2572-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon13:c.2572-1G>A;ENST00000400150:exon11:c.1720-1G>A;ENST00000400155:exon10:c.1690-1G>A;ENST00000400149:exon11:c.1642-1G>A;ENST00000400147:exon10:c.1666-1G>A;ENST00000584874:exon10:c.2572-1G>A;ENST00000534970:exon10:c.1624-1G>A;ENST00000539435:exon11:c.1696-1G>A;ENST00000581699:exon10:c.1690-1G>A;ENST00000400145:exon10:c.1666-1G>A;ENST00000515196:exon12:c.2572-1G>A;ENST00000581527:exon13:c.2572-1G>A)	.	.	0.999986675681007	0.932
18	3502645	T	A	18	3502647	y	y	splicing	DLGAP1(NM_004746:exon13:c.2572-2A>T;NM_001242766:exon11:c.1696-2A>T;NM_001242764:exon10:c.1690-2A>T;NM_001242763:exon11:c.1738-2A>T;NM_001242762:exon10:c.1624-2A>T;NM_001003809:exon10:c.1666-2A>T;NM_001242765:exon10:c.1666-2A>T;NM_001242761:exon13:c.2572-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon13:c.2572-2A>T;ENST00000400150:exon11:c.1720-2A>T;ENST00000400155:exon10:c.1690-2A>T;ENST00000400149:exon11:c.1642-2A>T;ENST00000400147:exon10:c.1666-2A>T;ENST00000584874:exon10:c.2572-2A>T;ENST00000534970:exon10:c.1624-2A>T;ENST00000539435:exon11:c.1696-2A>T;ENST00000581699:exon10:c.1690-2A>T;ENST00000400145:exon10:c.1666-2A>T;ENST00000515196:exon12:c.2572-2A>T;ENST00000581527:exon13:c.2572-2A>T)	.	.	0.999988247793601	0.924
18	3502645	T	C	18	3502647	y	y	splicing	DLGAP1(NM_004746:exon13:c.2572-2A>G;NM_001242766:exon11:c.1696-2A>G;NM_001242764:exon10:c.1690-2A>G;NM_001242763:exon11:c.1738-2A>G;NM_001242762:exon10:c.1624-2A>G;NM_001003809:exon10:c.1666-2A>G;NM_001242765:exon10:c.1666-2A>G;NM_001242761:exon13:c.2572-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon13:c.2572-2A>G;ENST00000400150:exon11:c.1720-2A>G;ENST00000400155:exon10:c.1690-2A>G;ENST00000400149:exon11:c.1642-2A>G;ENST00000400147:exon10:c.1666-2A>G;ENST00000584874:exon10:c.2572-2A>G;ENST00000534970:exon10:c.1624-2A>G;ENST00000539435:exon11:c.1696-2A>G;ENST00000581699:exon10:c.1690-2A>G;ENST00000400145:exon10:c.1666-2A>G;ENST00000515196:exon12:c.2572-2A>G;ENST00000581527:exon13:c.2572-2A>G)	.	.	0.999978952611685	0.926
18	3502645	T	G	18	3502647	y	y	splicing	DLGAP1(NM_004746:exon13:c.2572-2A>C;NM_001242766:exon11:c.1696-2A>C;NM_001242764:exon10:c.1690-2A>C;NM_001242763:exon11:c.1738-2A>C;NM_001242762:exon10:c.1624-2A>C;NM_001003809:exon10:c.1666-2A>C;NM_001242765:exon10:c.1666-2A>C;NM_001242761:exon13:c.2572-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon13:c.2572-2A>C;ENST00000400150:exon11:c.1720-2A>C;ENST00000400155:exon10:c.1690-2A>C;ENST00000400149:exon11:c.1642-2A>C;ENST00000400147:exon10:c.1666-2A>C;ENST00000584874:exon10:c.2572-2A>C;ENST00000534970:exon10:c.1624-2A>C;ENST00000539435:exon11:c.1696-2A>C;ENST00000581699:exon10:c.1690-2A>C;ENST00000400145:exon10:c.1666-2A>C;ENST00000515196:exon12:c.2572-2A>C;ENST00000581527:exon13:c.2572-2A>C)	.	.	0.999978952611685	0.926
18	3502646	G	A	18	3502648	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0333644035323809	0.21
18	3502646	G	C	18	3502648	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999534110596794	0.964
18	3502646	G	T	18	3502648	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.996196469562559	0.754
18	3502647	C	A	18	3502649	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.96344345480729E-6	0.0
18	3502647	C	G	18	3502649	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.38676036074725E-5	0.008
18	3502647	C	T	18	3502649	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.12345824431484E-5	0.002
18	3502648	A	C	18	3502650	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00770816997803424	0.21
18	3502648	A	G	18	3502650	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.27466185749529E-5	0.01
18	3502648	A	T	18	3502650	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.975787275194757	0.734
18	3502649	C	A	18	3502651	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.62921043601693E-5	0.056
18	3502649	C	G	18	3502651	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.33923222756232E-5	0.096
18	3502649	C	T	18	3502651	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.03006938329764E-4	0.052
18	3502650	A	C	18	3502652	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.75673590900195E-4	0.074
18	3502650	A	G	18	3502652	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.52300661745643E-5	0.01
18	3502650	A	T	18	3502652	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.993579508113195	0.706
18	3502651	A	C	18	3502653	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.27244118572114E-5	0.108
18	3502651	A	G	18	3502653	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.60026318975022E-5	0.022
18	3502651	A	T	18	3502653	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.30761130288864E-4	0.102
18	3502652	G	A	18	3502654	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.08092645675441E-5	0.022
18	3502652	G	C	18	3502654	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.84977489391086E-4	0.112
18	3502652	G	T	18	3502654	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.13993697898128E-4	0.14
18	3502653	A	C	18	3502655	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0339214337254608	0.24
18	3502653	A	G	18	3502655	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.00062826642628E-4	0.012
18	3502653	A	T	18	3502655	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.030108601306618	0.22
18	3502654	G	A	18	3502656	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.6835993964443E-5	0.0
18	3502654	G	C	18	3502656	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.01277144761263E-5	0.0
18	3502654	G	T	18	3502656	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.9615888138643E-5	0.016
18	3502655	A	C	18	3502657	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00571912221165867	0.26
18	3502655	A	G	18	3502657	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.95124236993384E-5	0.044
18	3502655	A	T	18	3502657	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00525758920009778	0.238
18	3508560	T	A	18	3508562	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.36293410476848E-4	0.006
18	3508560	T	C	18	3508562	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.12137096696779E-5	0.062
18	3508560	T	G	18	3508562	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.36293410476848E-4	0.006
18	3508561	T	A	18	3508563	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0214042676057956	0.074
18	3508561	T	C	18	3508563	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0165483286800678	0.052
18	3508561	T	G	18	3508563	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00545417267849097	0.034
18	3508562	A	C	18	3508564	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.994576261654522	0.902
18	3508562	A	G	18	3508564	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.975415865564537	0.708
18	3508562	A	T	18	3508564	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.995456545121234	0.75
18	3508563	C	A	18	3508565	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999983460720395	0.98
18	3508563	C	G	18	3508565	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999912679427675	0.988
18	3508563	C	T	18	3508565	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999971222343078	0.994
18	3508564	C	A	18	3508566	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00163015019895177	0.058
18	3508564	C	G	18	3508566	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00149458310799136	0.142
18	3508564	C	T	18	3508566	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.36185883666635E-4	0.068
18	3508565	T	A	18	3508567	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.998334271099922	0.922
18	3508565	T	C	18	3508567	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.988328132282176	0.922
18	3508565	T	G	18	3508567	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.99635094505439	0.854
18	3508566	A	C	18	3508568	y	y	splicing	DLGAP1(NM_004746:exon12:c.2571+2T>G;NM_001242766:exon10:c.1695+2T>G;NM_001242764:exon9:c.1689+2T>G;NM_001242763:exon10:c.1737+2T>G;NM_001242762:exon9:c.1623+2T>G;NM_001003809:exon9:c.1665+2T>G;NM_001242765:exon9:c.1665+2T>G;NM_001242761:exon12:c.2571+2T>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2571+2T>G;ENST00000400150:exon10:c.1719+2T>G;ENST00000400155:exon9:c.1689+2T>G;ENST00000400149:exon10:c.1641+2T>G;ENST00000400147:exon9:c.1665+2T>G;ENST00000584874:exon9:c.2571+2T>G;ENST00000534970:exon9:c.1623+2T>G;ENST00000539435:exon10:c.1695+2T>G;ENST00000581699:exon9:c.1689+2T>G;ENST00000400145:exon9:c.1665+2T>G;ENST00000515196:exon11:c.2571+2T>G;ENST00000581527:exon12:c.2571+2T>G)	.	.	0.999988247793601	0.928
18	3508566	A	G	18	3508568	y	y	splicing	DLGAP1(NM_004746:exon12:c.2571+2T>C;NM_001242766:exon10:c.1695+2T>C;NM_001242764:exon9:c.1689+2T>C;NM_001242763:exon10:c.1737+2T>C;NM_001242762:exon9:c.1623+2T>C;NM_001003809:exon9:c.1665+2T>C;NM_001242765:exon9:c.1665+2T>C;NM_001242761:exon12:c.2571+2T>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2571+2T>C;ENST00000400150:exon10:c.1719+2T>C;ENST00000400155:exon9:c.1689+2T>C;ENST00000400149:exon10:c.1641+2T>C;ENST00000400147:exon9:c.1665+2T>C;ENST00000584874:exon9:c.2571+2T>C;ENST00000534970:exon9:c.1623+2T>C;ENST00000539435:exon10:c.1695+2T>C;ENST00000581699:exon9:c.1689+2T>C;ENST00000400145:exon9:c.1665+2T>C;ENST00000515196:exon11:c.2571+2T>C;ENST00000581527:exon12:c.2571+2T>C)	.	.	0.99340600729494	0.68
18	3508566	A	T	18	3508568	y	y	splicing	DLGAP1(NM_004746:exon12:c.2571+2T>A;NM_001242766:exon10:c.1695+2T>A;NM_001242764:exon9:c.1689+2T>A;NM_001242763:exon10:c.1737+2T>A;NM_001242762:exon9:c.1623+2T>A;NM_001003809:exon9:c.1665+2T>A;NM_001242765:exon9:c.1665+2T>A;NM_001242761:exon12:c.2571+2T>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2571+2T>A;ENST00000400150:exon10:c.1719+2T>A;ENST00000400155:exon9:c.1689+2T>A;ENST00000400149:exon10:c.1641+2T>A;ENST00000400147:exon9:c.1665+2T>A;ENST00000584874:exon9:c.2571+2T>A;ENST00000534970:exon9:c.1623+2T>A;ENST00000539435:exon10:c.1695+2T>A;ENST00000581699:exon9:c.1689+2T>A;ENST00000400145:exon9:c.1665+2T>A;ENST00000515196:exon11:c.2571+2T>A;ENST00000581527:exon12:c.2571+2T>A)	.	.	0.999988247793601	0.928
18	3508567	C	A	18	3508569	y	y	splicing	DLGAP1(NM_004746:exon12:c.2571+1G>T;NM_001242766:exon10:c.1695+1G>T;NM_001242764:exon9:c.1689+1G>T;NM_001242763:exon10:c.1737+1G>T;NM_001242762:exon9:c.1623+1G>T;NM_001003809:exon9:c.1665+1G>T;NM_001242765:exon9:c.1665+1G>T;NM_001242761:exon12:c.2571+1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2571+1G>T;ENST00000400150:exon10:c.1719+1G>T;ENST00000400155:exon9:c.1689+1G>T;ENST00000400149:exon10:c.1641+1G>T;ENST00000400147:exon9:c.1665+1G>T;ENST00000584874:exon9:c.2571+1G>T;ENST00000534970:exon9:c.1623+1G>T;ENST00000539435:exon10:c.1695+1G>T;ENST00000581699:exon9:c.1689+1G>T;ENST00000400145:exon9:c.1665+1G>T;ENST00000515196:exon11:c.2571+1G>T;ENST00000581527:exon12:c.2571+1G>T)	.	.	0.999985532734767	0.936
18	3508567	C	G	18	3508569	y	y	splicing	DLGAP1(NM_004746:exon12:c.2571+1G>C;NM_001242766:exon10:c.1695+1G>C;NM_001242764:exon9:c.1689+1G>C;NM_001242763:exon10:c.1737+1G>C;NM_001242762:exon9:c.1623+1G>C;NM_001003809:exon9:c.1665+1G>C;NM_001242765:exon9:c.1665+1G>C;NM_001242761:exon12:c.2571+1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2571+1G>C;ENST00000400150:exon10:c.1719+1G>C;ENST00000400155:exon9:c.1689+1G>C;ENST00000400149:exon10:c.1641+1G>C;ENST00000400147:exon9:c.1665+1G>C;ENST00000584874:exon9:c.2571+1G>C;ENST00000534970:exon9:c.1623+1G>C;ENST00000539435:exon10:c.1695+1G>C;ENST00000581699:exon9:c.1689+1G>C;ENST00000400145:exon9:c.1665+1G>C;ENST00000515196:exon11:c.2571+1G>C;ENST00000581527:exon12:c.2571+1G>C)	.	.	0.999985532734767	0.936
18	3508567	C	T	18	3508569	y	y	splicing	DLGAP1(NM_004746:exon12:c.2571+1G>A;NM_001242766:exon10:c.1695+1G>A;NM_001242764:exon9:c.1689+1G>A;NM_001242763:exon10:c.1737+1G>A;NM_001242762:exon9:c.1623+1G>A;NM_001003809:exon9:c.1665+1G>A;NM_001242765:exon9:c.1665+1G>A;NM_001242761:exon12:c.2571+1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2571+1G>A;ENST00000400150:exon10:c.1719+1G>A;ENST00000400155:exon9:c.1689+1G>A;ENST00000400149:exon10:c.1641+1G>A;ENST00000400147:exon9:c.1665+1G>A;ENST00000584874:exon9:c.2571+1G>A;ENST00000534970:exon9:c.1623+1G>A;ENST00000539435:exon10:c.1695+1G>A;ENST00000581699:exon9:c.1689+1G>A;ENST00000400145:exon9:c.1665+1G>A;ENST00000515196:exon11:c.2571+1G>A;ENST00000581527:exon12:c.2571+1G>A)	.	.	0.999985532734767	0.936
18	3508568	C	A	18	3508570	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon11:c.G2571T:p.L857L;DLGAP1:NM_001242766:exon9:c.G1695T:p.L565L;DLGAP1:NM_001003809:exon8:c.G1665T:p.L555L;DLGAP1:NM_001242762:exon8:c.G1623T:p.L541L;DLGAP1:NM_001242763:exon9:c.G1737T:p.L579L;DLGAP1:NM_001242765:exon8:c.G1665T:p.L555L;DLGAP1:NM_004746:exon11:c.G2571T:p.L857L;DLGAP1:NM_001242764:exon8:c.G1689T:p.L563L;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.G1695T:p.L565L;ENSG00000170579:ENST00000515196:exon10:c.G2571T:p.L857L;ENSG00000170579:ENST00000581699:exon8:c.G1689T:p.L563L;ENSG00000170579:ENST00000400145:exon8:c.G1665T:p.L555L;ENSG00000170579:ENST00000400147:exon8:c.G1665T:p.L555L;ENSG00000170579:ENST00000584874:exon8:c.G2571T:p.L857L;ENSG00000170579:ENST00000315677:exon11:c.G2571T:p.L857L;ENSG00000170579:ENST00000400149:exon9:c.G1641T:p.L547L;ENSG00000170579:ENST00000400155:exon8:c.G1689T:p.L563L;ENSG00000170579:ENST00000581527:exon11:c.G2571T:p.L857L;ENSG00000170579:ENST00000400150:exon9:c.G1719T:p.L573L;ENSG00000170579:ENST00000534970:exon8:c.G1623T:p.L541L;	0.999947697438576	0.998
18	3508568	C	G	18	3508570	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon11:c.G2571C:p.L857L;DLGAP1:NM_001242766:exon9:c.G1695C:p.L565L;DLGAP1:NM_001003809:exon8:c.G1665C:p.L555L;DLGAP1:NM_001242762:exon8:c.G1623C:p.L541L;DLGAP1:NM_001242763:exon9:c.G1737C:p.L579L;DLGAP1:NM_001242765:exon8:c.G1665C:p.L555L;DLGAP1:NM_004746:exon11:c.G2571C:p.L857L;DLGAP1:NM_001242764:exon8:c.G1689C:p.L563L;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.G1695C:p.L565L;ENSG00000170579:ENST00000515196:exon10:c.G2571C:p.L857L;ENSG00000170579:ENST00000581699:exon8:c.G1689C:p.L563L;ENSG00000170579:ENST00000400145:exon8:c.G1665C:p.L555L;ENSG00000170579:ENST00000400147:exon8:c.G1665C:p.L555L;ENSG00000170579:ENST00000584874:exon8:c.G2571C:p.L857L;ENSG00000170579:ENST00000315677:exon11:c.G2571C:p.L857L;ENSG00000170579:ENST00000400149:exon9:c.G1641C:p.L547L;ENSG00000170579:ENST00000400155:exon8:c.G1689C:p.L563L;ENSG00000170579:ENST00000581527:exon11:c.G2571C:p.L857L;ENSG00000170579:ENST00000400150:exon9:c.G1719C:p.L573L;ENSG00000170579:ENST00000534970:exon8:c.G1623C:p.L541L;	0.999959260241114	0.992
18	3508568	C	T	18	3508570	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon11:c.G2571A:p.L857L;DLGAP1:NM_001242766:exon9:c.G1695A:p.L565L;DLGAP1:NM_001003809:exon8:c.G1665A:p.L555L;DLGAP1:NM_001242762:exon8:c.G1623A:p.L541L;DLGAP1:NM_001242763:exon9:c.G1737A:p.L579L;DLGAP1:NM_001242765:exon8:c.G1665A:p.L555L;DLGAP1:NM_004746:exon11:c.G2571A:p.L857L;DLGAP1:NM_001242764:exon8:c.G1689A:p.L563L;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.G1695A:p.L565L;ENSG00000170579:ENST00000515196:exon10:c.G2571A:p.L857L;ENSG00000170579:ENST00000581699:exon8:c.G1689A:p.L563L;ENSG00000170579:ENST00000400145:exon8:c.G1665A:p.L555L;ENSG00000170579:ENST00000400147:exon8:c.G1665A:p.L555L;ENSG00000170579:ENST00000584874:exon8:c.G2571A:p.L857L;ENSG00000170579:ENST00000315677:exon11:c.G2571A:p.L857L;ENSG00000170579:ENST00000400149:exon9:c.G1641A:p.L547L;ENSG00000170579:ENST00000400155:exon8:c.G1689A:p.L563L;ENSG00000170579:ENST00000581527:exon11:c.G2571A:p.L857L;ENSG00000170579:ENST00000400150:exon9:c.G1719A:p.L573L;ENSG00000170579:ENST00000534970:exon8:c.G1623A:p.L541L;	0.999949134674153	0.998
18	3508569	A	C	18	3508571	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.T2570G:p.L857R;DLGAP1:NM_001242766:exon9:c.T1694G:p.L565R;DLGAP1:NM_001003809:exon8:c.T1664G:p.L555R;DLGAP1:NM_001242762:exon8:c.T1622G:p.L541R;DLGAP1:NM_001242763:exon9:c.T1736G:p.L579R;DLGAP1:NM_001242765:exon8:c.T1664G:p.L555R;DLGAP1:NM_004746:exon11:c.T2570G:p.L857R;DLGAP1:NM_001242764:exon8:c.T1688G:p.L563R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1694G:p.L565R;ENSG00000170579:ENST00000515196:exon10:c.T2570G:p.L857R;ENSG00000170579:ENST00000581699:exon8:c.T1688G:p.L563R;ENSG00000170579:ENST00000400145:exon8:c.T1664G:p.L555R;ENSG00000170579:ENST00000400147:exon8:c.T1664G:p.L555R;ENSG00000170579:ENST00000584874:exon8:c.T2570G:p.L857R;ENSG00000170579:ENST00000315677:exon11:c.T2570G:p.L857R;ENSG00000170579:ENST00000400149:exon9:c.T1640G:p.L547R;ENSG00000170579:ENST00000400155:exon8:c.T1688G:p.L563R;ENSG00000170579:ENST00000581527:exon11:c.T2570G:p.L857R;ENSG00000170579:ENST00000400150:exon9:c.T1718G:p.L573R;ENSG00000170579:ENST00000534970:exon8:c.T1622G:p.L541R;	0.961825544234653	0.906
18	3508569	A	G	18	3508571	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.T2570C:p.L857P;DLGAP1:NM_001242766:exon9:c.T1694C:p.L565P;DLGAP1:NM_001003809:exon8:c.T1664C:p.L555P;DLGAP1:NM_001242762:exon8:c.T1622C:p.L541P;DLGAP1:NM_001242763:exon9:c.T1736C:p.L579P;DLGAP1:NM_001242765:exon8:c.T1664C:p.L555P;DLGAP1:NM_004746:exon11:c.T2570C:p.L857P;DLGAP1:NM_001242764:exon8:c.T1688C:p.L563P;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1694C:p.L565P;ENSG00000170579:ENST00000515196:exon10:c.T2570C:p.L857P;ENSG00000170579:ENST00000581699:exon8:c.T1688C:p.L563P;ENSG00000170579:ENST00000400145:exon8:c.T1664C:p.L555P;ENSG00000170579:ENST00000400147:exon8:c.T1664C:p.L555P;ENSG00000170579:ENST00000584874:exon8:c.T2570C:p.L857P;ENSG00000170579:ENST00000315677:exon11:c.T2570C:p.L857P;ENSG00000170579:ENST00000400149:exon9:c.T1640C:p.L547P;ENSG00000170579:ENST00000400155:exon8:c.T1688C:p.L563P;ENSG00000170579:ENST00000581527:exon11:c.T2570C:p.L857P;ENSG00000170579:ENST00000400150:exon9:c.T1718C:p.L573P;ENSG00000170579:ENST00000534970:exon8:c.T1622C:p.L541P;	0.949003498876541	0.91
18	3508569	A	T	18	3508571	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.T2570A:p.L857Q;DLGAP1:NM_001242766:exon9:c.T1694A:p.L565Q;DLGAP1:NM_001003809:exon8:c.T1664A:p.L555Q;DLGAP1:NM_001242762:exon8:c.T1622A:p.L541Q;DLGAP1:NM_001242763:exon9:c.T1736A:p.L579Q;DLGAP1:NM_001242765:exon8:c.T1664A:p.L555Q;DLGAP1:NM_004746:exon11:c.T2570A:p.L857Q;DLGAP1:NM_001242764:exon8:c.T1688A:p.L563Q;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1694A:p.L565Q;ENSG00000170579:ENST00000515196:exon10:c.T2570A:p.L857Q;ENSG00000170579:ENST00000581699:exon8:c.T1688A:p.L563Q;ENSG00000170579:ENST00000400145:exon8:c.T1664A:p.L555Q;ENSG00000170579:ENST00000400147:exon8:c.T1664A:p.L555Q;ENSG00000170579:ENST00000584874:exon8:c.T2570A:p.L857Q;ENSG00000170579:ENST00000315677:exon11:c.T2570A:p.L857Q;ENSG00000170579:ENST00000400149:exon9:c.T1640A:p.L547Q;ENSG00000170579:ENST00000400155:exon8:c.T1688A:p.L563Q;ENSG00000170579:ENST00000581527:exon11:c.T2570A:p.L857Q;ENSG00000170579:ENST00000400150:exon9:c.T1718A:p.L573Q;ENSG00000170579:ENST00000534970:exon8:c.T1622A:p.L541Q;	0.651898524951868	0.558
18	3508570	G	A	18	3508572	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon11:c.C2569T:p.L857L;DLGAP1:NM_001242766:exon9:c.C1693T:p.L565L;DLGAP1:NM_001003809:exon8:c.C1663T:p.L555L;DLGAP1:NM_001242762:exon8:c.C1621T:p.L541L;DLGAP1:NM_001242763:exon9:c.C1735T:p.L579L;DLGAP1:NM_001242765:exon8:c.C1663T:p.L555L;DLGAP1:NM_004746:exon11:c.C2569T:p.L857L;DLGAP1:NM_001242764:exon8:c.C1687T:p.L563L;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.C1693T:p.L565L;ENSG00000170579:ENST00000515196:exon10:c.C2569T:p.L857L;ENSG00000170579:ENST00000581699:exon8:c.C1687T:p.L563L;ENSG00000170579:ENST00000400145:exon8:c.C1663T:p.L555L;ENSG00000170579:ENST00000400147:exon8:c.C1663T:p.L555L;ENSG00000170579:ENST00000584874:exon8:c.C2569T:p.L857L;ENSG00000170579:ENST00000315677:exon11:c.C2569T:p.L857L;ENSG00000170579:ENST00000400149:exon9:c.C1639T:p.L547L;ENSG00000170579:ENST00000400155:exon8:c.C1687T:p.L563L;ENSG00000170579:ENST00000581527:exon11:c.C2569T:p.L857L;ENSG00000170579:ENST00000400150:exon9:c.C1717T:p.L573L;ENSG00000170579:ENST00000534970:exon8:c.C1621T:p.L541L;	0.986347079879409	0.652
18	3508570	G	C	18	3508572	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.C2569G:p.L857V;DLGAP1:NM_001242766:exon9:c.C1693G:p.L565V;DLGAP1:NM_001003809:exon8:c.C1663G:p.L555V;DLGAP1:NM_001242762:exon8:c.C1621G:p.L541V;DLGAP1:NM_001242763:exon9:c.C1735G:p.L579V;DLGAP1:NM_001242765:exon8:c.C1663G:p.L555V;DLGAP1:NM_004746:exon11:c.C2569G:p.L857V;DLGAP1:NM_001242764:exon8:c.C1687G:p.L563V;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.C1693G:p.L565V;ENSG00000170579:ENST00000515196:exon10:c.C2569G:p.L857V;ENSG00000170579:ENST00000581699:exon8:c.C1687G:p.L563V;ENSG00000170579:ENST00000400145:exon8:c.C1663G:p.L555V;ENSG00000170579:ENST00000400147:exon8:c.C1663G:p.L555V;ENSG00000170579:ENST00000584874:exon8:c.C2569G:p.L857V;ENSG00000170579:ENST00000315677:exon11:c.C2569G:p.L857V;ENSG00000170579:ENST00000400149:exon9:c.C1639G:p.L547V;ENSG00000170579:ENST00000400155:exon8:c.C1687G:p.L563V;ENSG00000170579:ENST00000581527:exon11:c.C2569G:p.L857V;ENSG00000170579:ENST00000400150:exon9:c.C1717G:p.L573V;ENSG00000170579:ENST00000534970:exon8:c.C1621G:p.L541V;	0.960178665320648	0.656
18	3508570	G	T	18	3508572	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.C2569A:p.L857M;DLGAP1:NM_001242766:exon9:c.C1693A:p.L565M;DLGAP1:NM_001003809:exon8:c.C1663A:p.L555M;DLGAP1:NM_001242762:exon8:c.C1621A:p.L541M;DLGAP1:NM_001242763:exon9:c.C1735A:p.L579M;DLGAP1:NM_001242765:exon8:c.C1663A:p.L555M;DLGAP1:NM_004746:exon11:c.C2569A:p.L857M;DLGAP1:NM_001242764:exon8:c.C1687A:p.L563M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.C1693A:p.L565M;ENSG00000170579:ENST00000515196:exon10:c.C2569A:p.L857M;ENSG00000170579:ENST00000581699:exon8:c.C1687A:p.L563M;ENSG00000170579:ENST00000400145:exon8:c.C1663A:p.L555M;ENSG00000170579:ENST00000400147:exon8:c.C1663A:p.L555M;ENSG00000170579:ENST00000584874:exon8:c.C2569A:p.L857M;ENSG00000170579:ENST00000315677:exon11:c.C2569A:p.L857M;ENSG00000170579:ENST00000400149:exon9:c.C1639A:p.L547M;ENSG00000170579:ENST00000400155:exon8:c.C1687A:p.L563M;ENSG00000170579:ENST00000581527:exon11:c.C2569A:p.L857M;ENSG00000170579:ENST00000400150:exon9:c.C1717A:p.L573M;ENSG00000170579:ENST00000534970:exon8:c.C1621A:p.L541M;	0.824583867967833	0.746
18	3508658	A	C	18	3508660	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.T2481G:p.I827M;DLGAP1:NM_001242766:exon9:c.T1605G:p.I535M;DLGAP1:NM_001003809:exon8:c.T1575G:p.I525M;DLGAP1:NM_001242762:exon8:c.T1533G:p.I511M;DLGAP1:NM_001242763:exon9:c.T1647G:p.I549M;DLGAP1:NM_001242765:exon8:c.T1575G:p.I525M;DLGAP1:NM_004746:exon11:c.T2481G:p.I827M;DLGAP1:NM_001242764:exon8:c.T1599G:p.I533M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1605G:p.I535M;ENSG00000170579:ENST00000515196:exon10:c.T2481G:p.I827M;ENSG00000170579:ENST00000581699:exon8:c.T1599G:p.I533M;ENSG00000170579:ENST00000400145:exon8:c.T1575G:p.I525M;ENSG00000170579:ENST00000400147:exon8:c.T1575G:p.I525M;ENSG00000170579:ENST00000584874:exon8:c.T2481G:p.I827M;ENSG00000170579:ENST00000315677:exon11:c.T2481G:p.I827M;ENSG00000170579:ENST00000400149:exon9:c.T1551G:p.I517M;ENSG00000170579:ENST00000400155:exon8:c.T1599G:p.I533M;ENSG00000170579:ENST00000581527:exon11:c.T2481G:p.I827M;ENSG00000170579:ENST00000400150:exon9:c.T1629G:p.I543M;ENSG00000170579:ENST00000534970:exon8:c.T1533G:p.I511M;	0.00133943099705644	0.116
18	3508658	A	G	18	3508660	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon11:c.T2481C:p.I827I;DLGAP1:NM_001242766:exon9:c.T1605C:p.I535I;DLGAP1:NM_001003809:exon8:c.T1575C:p.I525I;DLGAP1:NM_001242762:exon8:c.T1533C:p.I511I;DLGAP1:NM_001242763:exon9:c.T1647C:p.I549I;DLGAP1:NM_001242765:exon8:c.T1575C:p.I525I;DLGAP1:NM_004746:exon11:c.T2481C:p.I827I;DLGAP1:NM_001242764:exon8:c.T1599C:p.I533I;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1605C:p.I535I;ENSG00000170579:ENST00000515196:exon10:c.T2481C:p.I827I;ENSG00000170579:ENST00000581699:exon8:c.T1599C:p.I533I;ENSG00000170579:ENST00000400145:exon8:c.T1575C:p.I525I;ENSG00000170579:ENST00000400147:exon8:c.T1575C:p.I525I;ENSG00000170579:ENST00000584874:exon8:c.T2481C:p.I827I;ENSG00000170579:ENST00000315677:exon11:c.T2481C:p.I827I;ENSG00000170579:ENST00000400149:exon9:c.T1551C:p.I517I;ENSG00000170579:ENST00000400155:exon8:c.T1599C:p.I533I;ENSG00000170579:ENST00000581527:exon11:c.T2481C:p.I827I;ENSG00000170579:ENST00000400150:exon9:c.T1629C:p.I543I;ENSG00000170579:ENST00000534970:exon8:c.T1533C:p.I511I;	6.37228682121012E-4	0.06
18	3508658	A	T	18	3508660	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon11:c.T2481A:p.I827I;DLGAP1:NM_001242766:exon9:c.T1605A:p.I535I;DLGAP1:NM_001003809:exon8:c.T1575A:p.I525I;DLGAP1:NM_001242762:exon8:c.T1533A:p.I511I;DLGAP1:NM_001242763:exon9:c.T1647A:p.I549I;DLGAP1:NM_001242765:exon8:c.T1575A:p.I525I;DLGAP1:NM_004746:exon11:c.T2481A:p.I827I;DLGAP1:NM_001242764:exon8:c.T1599A:p.I533I;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1605A:p.I535I;ENSG00000170579:ENST00000515196:exon10:c.T2481A:p.I827I;ENSG00000170579:ENST00000581699:exon8:c.T1599A:p.I533I;ENSG00000170579:ENST00000400145:exon8:c.T1575A:p.I525I;ENSG00000170579:ENST00000400147:exon8:c.T1575A:p.I525I;ENSG00000170579:ENST00000584874:exon8:c.T2481A:p.I827I;ENSG00000170579:ENST00000315677:exon11:c.T2481A:p.I827I;ENSG00000170579:ENST00000400149:exon9:c.T1551A:p.I517I;ENSG00000170579:ENST00000400155:exon8:c.T1599A:p.I533I;ENSG00000170579:ENST00000581527:exon11:c.T2481A:p.I827I;ENSG00000170579:ENST00000400150:exon9:c.T1629A:p.I543I;ENSG00000170579:ENST00000534970:exon8:c.T1533A:p.I511I;	0.0020742577362244	0.072
18	3508659	A	C	18	3508661	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.T2480G:p.I827S;DLGAP1:NM_001242766:exon9:c.T1604G:p.I535S;DLGAP1:NM_001003809:exon8:c.T1574G:p.I525S;DLGAP1:NM_001242762:exon8:c.T1532G:p.I511S;DLGAP1:NM_001242763:exon9:c.T1646G:p.I549S;DLGAP1:NM_001242765:exon8:c.T1574G:p.I525S;DLGAP1:NM_004746:exon11:c.T2480G:p.I827S;DLGAP1:NM_001242764:exon8:c.T1598G:p.I533S;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1604G:p.I535S;ENSG00000170579:ENST00000515196:exon10:c.T2480G:p.I827S;ENSG00000170579:ENST00000581699:exon8:c.T1598G:p.I533S;ENSG00000170579:ENST00000400145:exon8:c.T1574G:p.I525S;ENSG00000170579:ENST00000400147:exon8:c.T1574G:p.I525S;ENSG00000170579:ENST00000584874:exon8:c.T2480G:p.I827S;ENSG00000170579:ENST00000315677:exon11:c.T2480G:p.I827S;ENSG00000170579:ENST00000400149:exon9:c.T1550G:p.I517S;ENSG00000170579:ENST00000400155:exon8:c.T1598G:p.I533S;ENSG00000170579:ENST00000581527:exon11:c.T2480G:p.I827S;ENSG00000170579:ENST00000400150:exon9:c.T1628G:p.I543S;ENSG00000170579:ENST00000534970:exon8:c.T1532G:p.I511S;	0.676086853835192	0.648
18	3508659	A	G	18	3508661	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.T2480C:p.I827T;DLGAP1:NM_001242766:exon9:c.T1604C:p.I535T;DLGAP1:NM_001003809:exon8:c.T1574C:p.I525T;DLGAP1:NM_001242762:exon8:c.T1532C:p.I511T;DLGAP1:NM_001242763:exon9:c.T1646C:p.I549T;DLGAP1:NM_001242765:exon8:c.T1574C:p.I525T;DLGAP1:NM_004746:exon11:c.T2480C:p.I827T;DLGAP1:NM_001242764:exon8:c.T1598C:p.I533T;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1604C:p.I535T;ENSG00000170579:ENST00000515196:exon10:c.T2480C:p.I827T;ENSG00000170579:ENST00000581699:exon8:c.T1598C:p.I533T;ENSG00000170579:ENST00000400145:exon8:c.T1574C:p.I525T;ENSG00000170579:ENST00000400147:exon8:c.T1574C:p.I525T;ENSG00000170579:ENST00000584874:exon8:c.T2480C:p.I827T;ENSG00000170579:ENST00000315677:exon11:c.T2480C:p.I827T;ENSG00000170579:ENST00000400149:exon9:c.T1550C:p.I517T;ENSG00000170579:ENST00000400155:exon8:c.T1598C:p.I533T;ENSG00000170579:ENST00000581527:exon11:c.T2480C:p.I827T;ENSG00000170579:ENST00000400150:exon9:c.T1628C:p.I543T;ENSG00000170579:ENST00000534970:exon8:c.T1532C:p.I511T;	0.783806793844844	0.71
18	3508659	A	T	18	3508661	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon11:c.T2480A:p.I827N;DLGAP1:NM_001242766:exon9:c.T1604A:p.I535N;DLGAP1:NM_001003809:exon8:c.T1574A:p.I525N;DLGAP1:NM_001242762:exon8:c.T1532A:p.I511N;DLGAP1:NM_001242763:exon9:c.T1646A:p.I549N;DLGAP1:NM_001242765:exon8:c.T1574A:p.I525N;DLGAP1:NM_004746:exon11:c.T2480A:p.I827N;DLGAP1:NM_001242764:exon8:c.T1598A:p.I533N;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon9:c.T1604A:p.I535N;ENSG00000170579:ENST00000515196:exon10:c.T2480A:p.I827N;ENSG00000170579:ENST00000581699:exon8:c.T1598A:p.I533N;ENSG00000170579:ENST00000400145:exon8:c.T1574A:p.I525N;ENSG00000170579:ENST00000400147:exon8:c.T1574A:p.I525N;ENSG00000170579:ENST00000584874:exon8:c.T2480A:p.I827N;ENSG00000170579:ENST00000315677:exon11:c.T2480A:p.I827N;ENSG00000170579:ENST00000400149:exon9:c.T1550A:p.I517N;ENSG00000170579:ENST00000400155:exon8:c.T1598A:p.I533N;ENSG00000170579:ENST00000581527:exon11:c.T2480A:p.I827N;ENSG00000170579:ENST00000400150:exon9:c.T1628A:p.I543N;ENSG00000170579:ENST00000534970:exon8:c.T1532A:p.I511N;	0.59984391472929	0.738
18	3508660	C	A	18	3508662	y	y	splicing	DLGAP1(NM_004746:exon12:c.2480-1G>T;NM_001242766:exon10:c.1604-1G>T;NM_001242764:exon9:c.1598-1G>T;NM_001242763:exon10:c.1646-1G>T;NM_001242762:exon9:c.1532-1G>T;NM_001003809:exon9:c.1574-1G>T;NM_001242765:exon9:c.1574-1G>T;NM_001242761:exon12:c.2480-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2480-1G>T;ENST00000400150:exon10:c.1628-1G>T;ENST00000400155:exon9:c.1598-1G>T;ENST00000400149:exon10:c.1550-1G>T;ENST00000400147:exon9:c.1574-1G>T;ENST00000584874:exon9:c.2480-1G>T;ENST00000534970:exon9:c.1532-1G>T;ENST00000539435:exon10:c.1604-1G>T;ENST00000581699:exon9:c.1598-1G>T;ENST00000400145:exon9:c.1574-1G>T;ENST00000515196:exon11:c.2480-1G>T;ENST00000581527:exon12:c.2480-1G>T)	.	.	0.999985532734767	0.934
18	3508660	C	G	18	3508662	y	y	splicing	DLGAP1(NM_004746:exon12:c.2480-1G>C;NM_001242766:exon10:c.1604-1G>C;NM_001242764:exon9:c.1598-1G>C;NM_001242763:exon10:c.1646-1G>C;NM_001242762:exon9:c.1532-1G>C;NM_001003809:exon9:c.1574-1G>C;NM_001242765:exon9:c.1574-1G>C;NM_001242761:exon12:c.2480-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2480-1G>C;ENST00000400150:exon10:c.1628-1G>C;ENST00000400155:exon9:c.1598-1G>C;ENST00000400149:exon10:c.1550-1G>C;ENST00000400147:exon9:c.1574-1G>C;ENST00000584874:exon9:c.2480-1G>C;ENST00000534970:exon9:c.1532-1G>C;ENST00000539435:exon10:c.1604-1G>C;ENST00000581699:exon9:c.1598-1G>C;ENST00000400145:exon9:c.1574-1G>C;ENST00000515196:exon11:c.2480-1G>C;ENST00000581527:exon12:c.2480-1G>C)	.	.	0.999985532734767	0.934
18	3508660	C	T	18	3508662	y	y	splicing	DLGAP1(NM_004746:exon12:c.2480-1G>A;NM_001242766:exon10:c.1604-1G>A;NM_001242764:exon9:c.1598-1G>A;NM_001242763:exon10:c.1646-1G>A;NM_001242762:exon9:c.1532-1G>A;NM_001003809:exon9:c.1574-1G>A;NM_001242765:exon9:c.1574-1G>A;NM_001242761:exon12:c.2480-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2480-1G>A;ENST00000400150:exon10:c.1628-1G>A;ENST00000400155:exon9:c.1598-1G>A;ENST00000400149:exon10:c.1550-1G>A;ENST00000400147:exon9:c.1574-1G>A;ENST00000584874:exon9:c.2480-1G>A;ENST00000534970:exon9:c.1532-1G>A;ENST00000539435:exon10:c.1604-1G>A;ENST00000581699:exon9:c.1598-1G>A;ENST00000400145:exon9:c.1574-1G>A;ENST00000515196:exon11:c.2480-1G>A;ENST00000581527:exon12:c.2480-1G>A)	.	.	0.999985532734767	0.934
18	3508661	T	A	18	3508663	y	y	splicing	DLGAP1(NM_004746:exon12:c.2480-2A>T;NM_001242766:exon10:c.1604-2A>T;NM_001242764:exon9:c.1598-2A>T;NM_001242763:exon10:c.1646-2A>T;NM_001242762:exon9:c.1532-2A>T;NM_001003809:exon9:c.1574-2A>T;NM_001242765:exon9:c.1574-2A>T;NM_001242761:exon12:c.2480-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2480-2A>T;ENST00000400150:exon10:c.1628-2A>T;ENST00000400155:exon9:c.1598-2A>T;ENST00000400149:exon10:c.1550-2A>T;ENST00000400147:exon9:c.1574-2A>T;ENST00000584874:exon9:c.2480-2A>T;ENST00000534970:exon9:c.1532-2A>T;ENST00000539435:exon10:c.1604-2A>T;ENST00000581699:exon9:c.1598-2A>T;ENST00000400145:exon9:c.1574-2A>T;ENST00000515196:exon11:c.2480-2A>T;ENST00000581527:exon12:c.2480-2A>T)	.	.	0.999978952611685	0.924
18	3508661	T	C	18	3508663	y	y	splicing	DLGAP1(NM_004746:exon12:c.2480-2A>G;NM_001242766:exon10:c.1604-2A>G;NM_001242764:exon9:c.1598-2A>G;NM_001242763:exon10:c.1646-2A>G;NM_001242762:exon9:c.1532-2A>G;NM_001003809:exon9:c.1574-2A>G;NM_001242765:exon9:c.1574-2A>G;NM_001242761:exon12:c.2480-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2480-2A>G;ENST00000400150:exon10:c.1628-2A>G;ENST00000400155:exon9:c.1598-2A>G;ENST00000400149:exon10:c.1550-2A>G;ENST00000400147:exon9:c.1574-2A>G;ENST00000584874:exon9:c.2480-2A>G;ENST00000534970:exon9:c.1532-2A>G;ENST00000539435:exon10:c.1604-2A>G;ENST00000581699:exon9:c.1598-2A>G;ENST00000400145:exon9:c.1574-2A>G;ENST00000515196:exon11:c.2480-2A>G;ENST00000581527:exon12:c.2480-2A>G)	.	.	0.999978952611685	0.926
18	3508661	T	G	18	3508663	y	y	splicing	DLGAP1(NM_004746:exon12:c.2480-2A>C;NM_001242766:exon10:c.1604-2A>C;NM_001242764:exon9:c.1598-2A>C;NM_001242763:exon10:c.1646-2A>C;NM_001242762:exon9:c.1532-2A>C;NM_001003809:exon9:c.1574-2A>C;NM_001242765:exon9:c.1574-2A>C;NM_001242761:exon12:c.2480-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon12:c.2480-2A>C;ENST00000400150:exon10:c.1628-2A>C;ENST00000400155:exon9:c.1598-2A>C;ENST00000400149:exon10:c.1550-2A>C;ENST00000400147:exon9:c.1574-2A>C;ENST00000584874:exon9:c.2480-2A>C;ENST00000534970:exon9:c.1532-2A>C;ENST00000539435:exon10:c.1604-2A>C;ENST00000581699:exon9:c.1598-2A>C;ENST00000400145:exon9:c.1574-2A>C;ENST00000515196:exon11:c.2480-2A>C;ENST00000581527:exon12:c.2480-2A>C)	.	.	0.999978952611685	0.926
18	3508662	G	A	18	3508664	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0900618696126081	0.302
18	3508662	G	C	18	3508664	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999812289665552	0.89
18	3508662	G	T	18	3508664	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.938171457263899	0.584
18	3508663	G	A	18	3508665	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.80971339853431E-5	0.002
18	3508663	G	C	18	3508665	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.20849590397436E-4	0.04
18	3508663	G	T	18	3508665	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.70034177832486E-5	0.004
18	3508664	A	C	18	3508666	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0305295432343189	0.39
18	3508664	A	G	18	3508666	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00381356843064292	0.11
18	3508664	A	T	18	3508666	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.043694084133316	0.38
18	3508665	A	C	18	3508667	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00378227330819563	0.16
18	3508665	A	G	18	3508667	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.71716398052923E-5	0.0
18	3508665	A	T	18	3508667	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00783426220746964	0.086
18	3508666	A	C	18	3508668	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00718722650515233	0.206
18	3508666	A	G	18	3508668	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.92047075319325E-4	0.032
18	3508666	A	T	18	3508668	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0139951135691828	0.184
18	3508667	G	A	18	3508669	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.57024364601751E-5	0.002
18	3508667	G	C	18	3508669	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.10778493104593E-4	0.088
18	3508667	G	T	18	3508669	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00280390962662504	0.152
18	3508668	A	C	18	3508670	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0166521366539688	0.238
18	3508668	A	G	18	3508670	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.26318590157331E-4	0.044
18	3508668	A	T	18	3508670	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0172866346166633	0.236
18	3508669	G	A	18	3508671	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.20433437923382E-4	0.046
18	3508669	G	C	18	3508671	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.018949453547614	0.184
18	3508669	G	T	18	3508671	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0248352524451734	0.23
18	3508670	C	A	18	3508672	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.9947031730829E-4	0.056
18	3508670	C	G	18	3508672	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.38654228594541E-4	0.074
18	3508670	C	T	18	3508672	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00128812689270497	0.142
18	3508671	A	C	18	3508673	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00692213976463456	0.276
18	3508671	A	G	18	3508673	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.37674851821332E-4	0.04
18	3508671	A	T	18	3508673	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.99996378489836	0.954
18	3534184	T	A	18	3534186	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.62287514778971E-5	0.0
18	3534184	T	C	18	3534186	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.69804420690404E-5	0.0
18	3534184	T	G	18	3534186	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.69804420690404E-5	0.002
18	3534185	T	A	18	3534187	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.59901939456998E-5	0.0
18	3534185	T	C	18	3534187	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.01763221548259E-4	0.0
18	3534185	T	G	18	3534187	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.01763221548259E-4	0.0
18	3534186	A	C	18	3534188	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.998277448251622	0.938
18	3534186	A	G	18	3534188	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.996201035465996	0.922
18	3534186	A	T	18	3534188	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.997783427953914	0.762
18	3534187	C	A	18	3534189	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999976229545353	0.986
18	3534187	C	G	18	3534189	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999984493604872	0.968
18	3534187	C	T	18	3534189	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999976229545353	1.0
18	3534188	T	A	18	3534190	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.998861850434612	0.954
18	3534188	T	C	18	3534190	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999064185185668	0.95
18	3534188	T	G	18	3534190	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.986143296807091	0.782
18	3534189	T	A	18	3534191	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999756377513226	0.99
18	3534189	T	C	18	3534191	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.911650013644182	0.504
18	3534189	T	G	18	3534191	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999796507813172	0.928
18	3534190	A	C	18	3534192	y	y	splicing	DLGAP1(NM_004746:exon11:c.2479+2T>G;NM_001242766:exon9:c.1603+2T>G;NM_001242764:exon8:c.1597+2T>G;NM_001242763:exon9:c.1645+2T>G;NM_001242762:exon8:c.1531+2T>G;NM_001003809:exon8:c.1573+2T>G;NM_001242765:exon8:c.1573+2T>G;NM_001242761:exon11:c.2479+2T>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2479+2T>G;ENST00000400150:exon9:c.1627+2T>G;ENST00000400155:exon8:c.1597+2T>G;ENST00000400149:exon9:c.1549+2T>G;ENST00000400147:exon8:c.1573+2T>G;ENST00000584874:exon8:c.2479+2T>G;ENST00000534970:exon8:c.1531+2T>G;ENST00000539435:exon9:c.1603+2T>G;ENST00000581699:exon8:c.1597+2T>G;ENST00000400145:exon8:c.1573+2T>G;ENST00000515196:exon10:c.2479+2T>G;ENST00000581527:exon11:c.2479+2T>G)	.	.	0.999988247793601	0.932
18	3534190	A	G	18	3534192	y	y	splicing	DLGAP1(NM_004746:exon11:c.2479+2T>C;NM_001242766:exon9:c.1603+2T>C;NM_001242764:exon8:c.1597+2T>C;NM_001242763:exon9:c.1645+2T>C;NM_001242762:exon8:c.1531+2T>C;NM_001003809:exon8:c.1573+2T>C;NM_001242765:exon8:c.1573+2T>C;NM_001242761:exon11:c.2479+2T>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2479+2T>C;ENST00000400150:exon9:c.1627+2T>C;ENST00000400155:exon8:c.1597+2T>C;ENST00000400149:exon9:c.1549+2T>C;ENST00000400147:exon8:c.1573+2T>C;ENST00000584874:exon8:c.2479+2T>C;ENST00000534970:exon8:c.1531+2T>C;ENST00000539435:exon9:c.1603+2T>C;ENST00000581699:exon8:c.1597+2T>C;ENST00000400145:exon8:c.1573+2T>C;ENST00000515196:exon10:c.2479+2T>C;ENST00000581527:exon11:c.2479+2T>C)	.	.	0.994731650058242	0.704
18	3534190	A	T	18	3534192	y	y	splicing	DLGAP1(NM_004746:exon11:c.2479+2T>A;NM_001242766:exon9:c.1603+2T>A;NM_001242764:exon8:c.1597+2T>A;NM_001242763:exon9:c.1645+2T>A;NM_001242762:exon8:c.1531+2T>A;NM_001003809:exon8:c.1573+2T>A;NM_001242765:exon8:c.1573+2T>A;NM_001242761:exon11:c.2479+2T>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2479+2T>A;ENST00000400150:exon9:c.1627+2T>A;ENST00000400155:exon8:c.1597+2T>A;ENST00000400149:exon9:c.1549+2T>A;ENST00000400147:exon8:c.1573+2T>A;ENST00000584874:exon8:c.2479+2T>A;ENST00000534970:exon8:c.1531+2T>A;ENST00000539435:exon9:c.1603+2T>A;ENST00000581699:exon8:c.1597+2T>A;ENST00000400145:exon8:c.1573+2T>A;ENST00000515196:exon10:c.2479+2T>A;ENST00000581527:exon11:c.2479+2T>A)	.	.	0.999988247793601	0.932
18	3534191	C	A	18	3534193	y	y	splicing	DLGAP1(NM_004746:exon11:c.2479+1G>T;NM_001242766:exon9:c.1603+1G>T;NM_001242764:exon8:c.1597+1G>T;NM_001242763:exon9:c.1645+1G>T;NM_001242762:exon8:c.1531+1G>T;NM_001003809:exon8:c.1573+1G>T;NM_001242765:exon8:c.1573+1G>T;NM_001242761:exon11:c.2479+1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2479+1G>T;ENST00000400150:exon9:c.1627+1G>T;ENST00000400155:exon8:c.1597+1G>T;ENST00000400149:exon9:c.1549+1G>T;ENST00000400147:exon8:c.1573+1G>T;ENST00000584874:exon8:c.2479+1G>T;ENST00000534970:exon8:c.1531+1G>T;ENST00000539435:exon9:c.1603+1G>T;ENST00000581699:exon8:c.1597+1G>T;ENST00000400145:exon8:c.1573+1G>T;ENST00000515196:exon10:c.2479+1G>T;ENST00000581527:exon11:c.2479+1G>T)	.	.	0.999990361384395	0.938
18	3534191	C	G	18	3534193	y	y	splicing	DLGAP1(NM_004746:exon11:c.2479+1G>C;NM_001242766:exon9:c.1603+1G>C;NM_001242764:exon8:c.1597+1G>C;NM_001242763:exon9:c.1645+1G>C;NM_001242762:exon8:c.1531+1G>C;NM_001003809:exon8:c.1573+1G>C;NM_001242765:exon8:c.1573+1G>C;NM_001242761:exon11:c.2479+1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2479+1G>C;ENST00000400150:exon9:c.1627+1G>C;ENST00000400155:exon8:c.1597+1G>C;ENST00000400149:exon9:c.1549+1G>C;ENST00000400147:exon8:c.1573+1G>C;ENST00000584874:exon8:c.2479+1G>C;ENST00000534970:exon8:c.1531+1G>C;ENST00000539435:exon9:c.1603+1G>C;ENST00000581699:exon8:c.1597+1G>C;ENST00000400145:exon8:c.1573+1G>C;ENST00000515196:exon10:c.2479+1G>C;ENST00000581527:exon11:c.2479+1G>C)	.	.	0.999990361384395	0.938
18	3534191	C	T	18	3534193	y	y	splicing	DLGAP1(NM_004746:exon11:c.2479+1G>A;NM_001242766:exon9:c.1603+1G>A;NM_001242764:exon8:c.1597+1G>A;NM_001242763:exon9:c.1645+1G>A;NM_001242762:exon8:c.1531+1G>A;NM_001003809:exon8:c.1573+1G>A;NM_001242765:exon8:c.1573+1G>A;NM_001242761:exon11:c.2479+1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2479+1G>A;ENST00000400150:exon9:c.1627+1G>A;ENST00000400155:exon8:c.1597+1G>A;ENST00000400149:exon9:c.1549+1G>A;ENST00000400147:exon8:c.1573+1G>A;ENST00000584874:exon8:c.2479+1G>A;ENST00000534970:exon8:c.1531+1G>A;ENST00000539435:exon9:c.1603+1G>A;ENST00000581699:exon8:c.1597+1G>A;ENST00000400145:exon8:c.1573+1G>A;ENST00000515196:exon10:c.2479+1G>A;ENST00000581527:exon11:c.2479+1G>A)	.	.	0.999990361384395	0.938
18	3534192	T	A	18	3534194	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.A2479T:p.I827F;DLGAP1:NM_001242766:exon8:c.A1603T:p.I535F;DLGAP1:NM_001003809:exon7:c.A1573T:p.I525F;DLGAP1:NM_001242762:exon7:c.A1531T:p.I511F;DLGAP1:NM_001242763:exon8:c.A1645T:p.I549F;DLGAP1:NM_001242765:exon7:c.A1573T:p.I525F;DLGAP1:NM_004746:exon10:c.A2479T:p.I827F;DLGAP1:NM_001242764:exon7:c.A1597T:p.I533F;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.A1603T:p.I535F;ENSG00000170579:ENST00000515196:exon9:c.A2479T:p.I827F;ENSG00000170579:ENST00000581699:exon7:c.A1597T:p.I533F;ENSG00000170579:ENST00000400145:exon7:c.A1573T:p.I525F;ENSG00000170579:ENST00000400147:exon7:c.A1573T:p.I525F;ENSG00000170579:ENST00000584874:exon7:c.A2479T:p.I827F;ENSG00000170579:ENST00000315677:exon10:c.A2479T:p.I827F;ENSG00000170579:ENST00000400149:exon8:c.A1549T:p.I517F;ENSG00000170579:ENST00000400155:exon7:c.A1597T:p.I533F;ENSG00000170579:ENST00000581527:exon10:c.A2479T:p.I827F;ENSG00000170579:ENST00000400150:exon8:c.A1627T:p.I543F;ENSG00000170579:ENST00000534970:exon7:c.A1531T:p.I511F;	0.946027530436089	0.694
18	3534192	T	C	18	3534194	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.A2479G:p.I827V;DLGAP1:NM_001242766:exon8:c.A1603G:p.I535V;DLGAP1:NM_001003809:exon7:c.A1573G:p.I525V;DLGAP1:NM_001242762:exon7:c.A1531G:p.I511V;DLGAP1:NM_001242763:exon8:c.A1645G:p.I549V;DLGAP1:NM_001242765:exon7:c.A1573G:p.I525V;DLGAP1:NM_004746:exon10:c.A2479G:p.I827V;DLGAP1:NM_001242764:exon7:c.A1597G:p.I533V;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.A1603G:p.I535V;ENSG00000170579:ENST00000515196:exon9:c.A2479G:p.I827V;ENSG00000170579:ENST00000581699:exon7:c.A1597G:p.I533V;ENSG00000170579:ENST00000400145:exon7:c.A1573G:p.I525V;ENSG00000170579:ENST00000400147:exon7:c.A1573G:p.I525V;ENSG00000170579:ENST00000584874:exon7:c.A2479G:p.I827V;ENSG00000170579:ENST00000315677:exon10:c.A2479G:p.I827V;ENSG00000170579:ENST00000400149:exon8:c.A1549G:p.I517V;ENSG00000170579:ENST00000400155:exon7:c.A1597G:p.I533V;ENSG00000170579:ENST00000581527:exon10:c.A2479G:p.I827V;ENSG00000170579:ENST00000400150:exon8:c.A1627G:p.I543V;ENSG00000170579:ENST00000534970:exon7:c.A1531G:p.I511V;	4.18207946147556E-4	0.03
18	3534192	T	G	18	3534194	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.A2479C:p.I827L;DLGAP1:NM_001242766:exon8:c.A1603C:p.I535L;DLGAP1:NM_001003809:exon7:c.A1573C:p.I525L;DLGAP1:NM_001242762:exon7:c.A1531C:p.I511L;DLGAP1:NM_001242763:exon8:c.A1645C:p.I549L;DLGAP1:NM_001242765:exon7:c.A1573C:p.I525L;DLGAP1:NM_004746:exon10:c.A2479C:p.I827L;DLGAP1:NM_001242764:exon7:c.A1597C:p.I533L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.A1603C:p.I535L;ENSG00000170579:ENST00000515196:exon9:c.A2479C:p.I827L;ENSG00000170579:ENST00000581699:exon7:c.A1597C:p.I533L;ENSG00000170579:ENST00000400145:exon7:c.A1573C:p.I525L;ENSG00000170579:ENST00000400147:exon7:c.A1573C:p.I525L;ENSG00000170579:ENST00000584874:exon7:c.A2479C:p.I827L;ENSG00000170579:ENST00000315677:exon10:c.A2479C:p.I827L;ENSG00000170579:ENST00000400149:exon8:c.A1549C:p.I517L;ENSG00000170579:ENST00000400155:exon7:c.A1597C:p.I533L;ENSG00000170579:ENST00000581527:exon10:c.A2479C:p.I827L;ENSG00000170579:ENST00000400150:exon8:c.A1627C:p.I543L;ENSG00000170579:ENST00000534970:exon7:c.A1531C:p.I511L;	0.819556560534578	0.802
18	3534193	G	A	18	3534195	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon10:c.C2478T:p.D826D;DLGAP1:NM_001242766:exon8:c.C1602T:p.D534D;DLGAP1:NM_001003809:exon7:c.C1572T:p.D524D;DLGAP1:NM_001242762:exon7:c.C1530T:p.D510D;DLGAP1:NM_001242763:exon8:c.C1644T:p.D548D;DLGAP1:NM_001242765:exon7:c.C1572T:p.D524D;DLGAP1:NM_004746:exon10:c.C2478T:p.D826D;DLGAP1:NM_001242764:exon7:c.C1596T:p.D532D;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.C1602T:p.D534D;ENSG00000170579:ENST00000515196:exon9:c.C2478T:p.D826D;ENSG00000170579:ENST00000581699:exon7:c.C1596T:p.D532D;ENSG00000170579:ENST00000400145:exon7:c.C1572T:p.D524D;ENSG00000170579:ENST00000400147:exon7:c.C1572T:p.D524D;ENSG00000170579:ENST00000584874:exon7:c.C2478T:p.D826D;ENSG00000170579:ENST00000315677:exon10:c.C2478T:p.D826D;ENSG00000170579:ENST00000400149:exon8:c.C1548T:p.D516D;ENSG00000170579:ENST00000400155:exon7:c.C1596T:p.D532D;ENSG00000170579:ENST00000581527:exon10:c.C2478T:p.D826D;ENSG00000170579:ENST00000400150:exon8:c.C1626T:p.D542D;ENSG00000170579:ENST00000534970:exon7:c.C1530T:p.D510D;	0.00200529509230926	0.064
18	3534193	G	C	18	3534195	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.C2478G:p.D826E;DLGAP1:NM_001242766:exon8:c.C1602G:p.D534E;DLGAP1:NM_001003809:exon7:c.C1572G:p.D524E;DLGAP1:NM_001242762:exon7:c.C1530G:p.D510E;DLGAP1:NM_001242763:exon8:c.C1644G:p.D548E;DLGAP1:NM_001242765:exon7:c.C1572G:p.D524E;DLGAP1:NM_004746:exon10:c.C2478G:p.D826E;DLGAP1:NM_001242764:exon7:c.C1596G:p.D532E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.C1602G:p.D534E;ENSG00000170579:ENST00000515196:exon9:c.C2478G:p.D826E;ENSG00000170579:ENST00000581699:exon7:c.C1596G:p.D532E;ENSG00000170579:ENST00000400145:exon7:c.C1572G:p.D524E;ENSG00000170579:ENST00000400147:exon7:c.C1572G:p.D524E;ENSG00000170579:ENST00000584874:exon7:c.C2478G:p.D826E;ENSG00000170579:ENST00000315677:exon10:c.C2478G:p.D826E;ENSG00000170579:ENST00000400149:exon8:c.C1548G:p.D516E;ENSG00000170579:ENST00000400155:exon7:c.C1596G:p.D532E;ENSG00000170579:ENST00000581527:exon10:c.C2478G:p.D826E;ENSG00000170579:ENST00000400150:exon8:c.C1626G:p.D542E;ENSG00000170579:ENST00000534970:exon7:c.C1530G:p.D510E;	1.30907764706004E-4	0.044
18	3534193	G	T	18	3534195	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.C2478A:p.D826E;DLGAP1:NM_001242766:exon8:c.C1602A:p.D534E;DLGAP1:NM_001003809:exon7:c.C1572A:p.D524E;DLGAP1:NM_001242762:exon7:c.C1530A:p.D510E;DLGAP1:NM_001242763:exon8:c.C1644A:p.D548E;DLGAP1:NM_001242765:exon7:c.C1572A:p.D524E;DLGAP1:NM_004746:exon10:c.C2478A:p.D826E;DLGAP1:NM_001242764:exon7:c.C1596A:p.D532E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.C1602A:p.D534E;ENSG00000170579:ENST00000515196:exon9:c.C2478A:p.D826E;ENSG00000170579:ENST00000581699:exon7:c.C1596A:p.D532E;ENSG00000170579:ENST00000400145:exon7:c.C1572A:p.D524E;ENSG00000170579:ENST00000400147:exon7:c.C1572A:p.D524E;ENSG00000170579:ENST00000584874:exon7:c.C2478A:p.D826E;ENSG00000170579:ENST00000315677:exon10:c.C2478A:p.D826E;ENSG00000170579:ENST00000400149:exon8:c.C1548A:p.D516E;ENSG00000170579:ENST00000400155:exon7:c.C1596A:p.D532E;ENSG00000170579:ENST00000581527:exon10:c.C2478A:p.D826E;ENSG00000170579:ENST00000400150:exon8:c.C1626A:p.D542E;ENSG00000170579:ENST00000534970:exon7:c.C1530A:p.D510E;	6.05286404492751E-4	0.174
18	3534194	T	A	18	3534196	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.A2477T:p.D826V;DLGAP1:NM_001242766:exon8:c.A1601T:p.D534V;DLGAP1:NM_001003809:exon7:c.A1571T:p.D524V;DLGAP1:NM_001242762:exon7:c.A1529T:p.D510V;DLGAP1:NM_001242763:exon8:c.A1643T:p.D548V;DLGAP1:NM_001242765:exon7:c.A1571T:p.D524V;DLGAP1:NM_004746:exon10:c.A2477T:p.D826V;DLGAP1:NM_001242764:exon7:c.A1595T:p.D532V;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.A1601T:p.D534V;ENSG00000170579:ENST00000515196:exon9:c.A2477T:p.D826V;ENSG00000170579:ENST00000581699:exon7:c.A1595T:p.D532V;ENSG00000170579:ENST00000400145:exon7:c.A1571T:p.D524V;ENSG00000170579:ENST00000400147:exon7:c.A1571T:p.D524V;ENSG00000170579:ENST00000584874:exon7:c.A2477T:p.D826V;ENSG00000170579:ENST00000315677:exon10:c.A2477T:p.D826V;ENSG00000170579:ENST00000400149:exon8:c.A1547T:p.D516V;ENSG00000170579:ENST00000400155:exon7:c.A1595T:p.D532V;ENSG00000170579:ENST00000581527:exon10:c.A2477T:p.D826V;ENSG00000170579:ENST00000400150:exon8:c.A1625T:p.D542V;ENSG00000170579:ENST00000534970:exon7:c.A1529T:p.D510V;	0.996766671665621	0.632
18	3534194	T	C	18	3534196	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.A2477G:p.D826G;DLGAP1:NM_001242766:exon8:c.A1601G:p.D534G;DLGAP1:NM_001003809:exon7:c.A1571G:p.D524G;DLGAP1:NM_001242762:exon7:c.A1529G:p.D510G;DLGAP1:NM_001242763:exon8:c.A1643G:p.D548G;DLGAP1:NM_001242765:exon7:c.A1571G:p.D524G;DLGAP1:NM_004746:exon10:c.A2477G:p.D826G;DLGAP1:NM_001242764:exon7:c.A1595G:p.D532G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.A1601G:p.D534G;ENSG00000170579:ENST00000515196:exon9:c.A2477G:p.D826G;ENSG00000170579:ENST00000581699:exon7:c.A1595G:p.D532G;ENSG00000170579:ENST00000400145:exon7:c.A1571G:p.D524G;ENSG00000170579:ENST00000400147:exon7:c.A1571G:p.D524G;ENSG00000170579:ENST00000584874:exon7:c.A2477G:p.D826G;ENSG00000170579:ENST00000315677:exon10:c.A2477G:p.D826G;ENSG00000170579:ENST00000400149:exon8:c.A1547G:p.D516G;ENSG00000170579:ENST00000400155:exon7:c.A1595G:p.D532G;ENSG00000170579:ENST00000581527:exon10:c.A2477G:p.D826G;ENSG00000170579:ENST00000400150:exon8:c.A1625G:p.D542G;ENSG00000170579:ENST00000534970:exon7:c.A1529G:p.D510G;	0.707469261540715	0.448
18	3534194	T	G	18	3534196	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.A2477C:p.D826A;DLGAP1:NM_001242766:exon8:c.A1601C:p.D534A;DLGAP1:NM_001003809:exon7:c.A1571C:p.D524A;DLGAP1:NM_001242762:exon7:c.A1529C:p.D510A;DLGAP1:NM_001242763:exon8:c.A1643C:p.D548A;DLGAP1:NM_001242765:exon7:c.A1571C:p.D524A;DLGAP1:NM_004746:exon10:c.A2477C:p.D826A;DLGAP1:NM_001242764:exon7:c.A1595C:p.D532A;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.A1601C:p.D534A;ENSG00000170579:ENST00000515196:exon9:c.A2477C:p.D826A;ENSG00000170579:ENST00000581699:exon7:c.A1595C:p.D532A;ENSG00000170579:ENST00000400145:exon7:c.A1571C:p.D524A;ENSG00000170579:ENST00000400147:exon7:c.A1571C:p.D524A;ENSG00000170579:ENST00000584874:exon7:c.A2477C:p.D826A;ENSG00000170579:ENST00000315677:exon10:c.A2477C:p.D826A;ENSG00000170579:ENST00000400149:exon8:c.A1547C:p.D516A;ENSG00000170579:ENST00000400155:exon7:c.A1595C:p.D532A;ENSG00000170579:ENST00000581527:exon10:c.A2477C:p.D826A;ENSG00000170579:ENST00000400150:exon8:c.A1625C:p.D542A;ENSG00000170579:ENST00000534970:exon7:c.A1529C:p.D510A;	0.797750125757395	0.662
18	3534612	A	C	18	3534614	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.T2059G:p.F687V;DLGAP1:NM_001242766:exon8:c.T1183G:p.F395V;DLGAP1:NM_001003809:exon7:c.T1153G:p.F385V;DLGAP1:NM_001242762:exon7:c.T1111G:p.F371V;DLGAP1:NM_001242763:exon8:c.T1225G:p.F409V;DLGAP1:NM_001242765:exon7:c.T1153G:p.F385V;DLGAP1:NM_004746:exon10:c.T2059G:p.F687V;DLGAP1:NM_001242764:exon7:c.T1177G:p.F393V;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.T1183G:p.F395V;ENSG00000170579:ENST00000515196:exon9:c.T2059G:p.F687V;ENSG00000170579:ENST00000581699:exon7:c.T1177G:p.F393V;ENSG00000170579:ENST00000400145:exon7:c.T1153G:p.F385V;ENSG00000170579:ENST00000400147:exon7:c.T1153G:p.F385V;ENSG00000170579:ENST00000584874:exon7:c.T2059G:p.F687V;ENSG00000170579:ENST00000315677:exon10:c.T2059G:p.F687V;ENSG00000170579:ENST00000400149:exon8:c.T1129G:p.F377V;ENSG00000170579:ENST00000400155:exon7:c.T1177G:p.F393V;ENSG00000170579:ENST00000581527:exon10:c.T2059G:p.F687V;ENSG00000170579:ENST00000400150:exon8:c.T1207G:p.F403V;ENSG00000170579:ENST00000534970:exon7:c.T1111G:p.F371V;	0.00151424215962528	0.084
18	3534612	A	G	18	3534614	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.T2059C:p.F687L;DLGAP1:NM_001242766:exon8:c.T1183C:p.F395L;DLGAP1:NM_001003809:exon7:c.T1153C:p.F385L;DLGAP1:NM_001242762:exon7:c.T1111C:p.F371L;DLGAP1:NM_001242763:exon8:c.T1225C:p.F409L;DLGAP1:NM_001242765:exon7:c.T1153C:p.F385L;DLGAP1:NM_004746:exon10:c.T2059C:p.F687L;DLGAP1:NM_001242764:exon7:c.T1177C:p.F393L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.T1183C:p.F395L;ENSG00000170579:ENST00000515196:exon9:c.T2059C:p.F687L;ENSG00000170579:ENST00000581699:exon7:c.T1177C:p.F393L;ENSG00000170579:ENST00000400145:exon7:c.T1153C:p.F385L;ENSG00000170579:ENST00000400147:exon7:c.T1153C:p.F385L;ENSG00000170579:ENST00000584874:exon7:c.T2059C:p.F687L;ENSG00000170579:ENST00000315677:exon10:c.T2059C:p.F687L;ENSG00000170579:ENST00000400149:exon8:c.T1129C:p.F377L;ENSG00000170579:ENST00000400155:exon7:c.T1177C:p.F393L;ENSG00000170579:ENST00000581527:exon10:c.T2059C:p.F687L;ENSG00000170579:ENST00000400150:exon8:c.T1207C:p.F403L;ENSG00000170579:ENST00000534970:exon7:c.T1111C:p.F371L;	0.00286842845104846	0.114
18	3534612	A	T	18	3534614	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.T2059A:p.F687I;DLGAP1:NM_001242766:exon8:c.T1183A:p.F395I;DLGAP1:NM_001003809:exon7:c.T1153A:p.F385I;DLGAP1:NM_001242762:exon7:c.T1111A:p.F371I;DLGAP1:NM_001242763:exon8:c.T1225A:p.F409I;DLGAP1:NM_001242765:exon7:c.T1153A:p.F385I;DLGAP1:NM_004746:exon10:c.T2059A:p.F687I;DLGAP1:NM_001242764:exon7:c.T1177A:p.F393I;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.T1183A:p.F395I;ENSG00000170579:ENST00000515196:exon9:c.T2059A:p.F687I;ENSG00000170579:ENST00000581699:exon7:c.T1177A:p.F393I;ENSG00000170579:ENST00000400145:exon7:c.T1153A:p.F385I;ENSG00000170579:ENST00000400147:exon7:c.T1153A:p.F385I;ENSG00000170579:ENST00000584874:exon7:c.T2059A:p.F687I;ENSG00000170579:ENST00000315677:exon10:c.T2059A:p.F687I;ENSG00000170579:ENST00000400149:exon8:c.T1129A:p.F377I;ENSG00000170579:ENST00000400155:exon7:c.T1177A:p.F393I;ENSG00000170579:ENST00000581527:exon10:c.T2059A:p.F687I;ENSG00000170579:ENST00000400150:exon8:c.T1207A:p.F403I;ENSG00000170579:ENST00000534970:exon7:c.T1111A:p.F371I;	0.0318093548474849	0.184
18	3534613	G	A	18	3534615	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon10:c.C2058T:p.C686C;DLGAP1:NM_001242766:exon8:c.C1182T:p.C394C;DLGAP1:NM_001003809:exon7:c.C1152T:p.C384C;DLGAP1:NM_001242762:exon7:c.C1110T:p.C370C;DLGAP1:NM_001242763:exon8:c.C1224T:p.C408C;DLGAP1:NM_001242765:exon7:c.C1152T:p.C384C;DLGAP1:NM_004746:exon10:c.C2058T:p.C686C;DLGAP1:NM_001242764:exon7:c.C1176T:p.C392C;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.C1182T:p.C394C;ENSG00000170579:ENST00000515196:exon9:c.C2058T:p.C686C;ENSG00000170579:ENST00000581699:exon7:c.C1176T:p.C392C;ENSG00000170579:ENST00000400145:exon7:c.C1152T:p.C384C;ENSG00000170579:ENST00000400147:exon7:c.C1152T:p.C384C;ENSG00000170579:ENST00000584874:exon7:c.C2058T:p.C686C;ENSG00000170579:ENST00000315677:exon10:c.C2058T:p.C686C;ENSG00000170579:ENST00000400149:exon8:c.C1128T:p.C376C;ENSG00000170579:ENST00000400155:exon7:c.C1176T:p.C392C;ENSG00000170579:ENST00000581527:exon10:c.C2058T:p.C686C;ENSG00000170579:ENST00000400150:exon8:c.C1206T:p.C402C;ENSG00000170579:ENST00000534970:exon7:c.C1110T:p.C370C;	1.85385621630645E-5	0.03
18	3534613	G	C	18	3534615	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon10:c.C2058G:p.C686W;DLGAP1:NM_001242766:exon8:c.C1182G:p.C394W;DLGAP1:NM_001003809:exon7:c.C1152G:p.C384W;DLGAP1:NM_001242762:exon7:c.C1110G:p.C370W;DLGAP1:NM_001242763:exon8:c.C1224G:p.C408W;DLGAP1:NM_001242765:exon7:c.C1152G:p.C384W;DLGAP1:NM_004746:exon10:c.C2058G:p.C686W;DLGAP1:NM_001242764:exon7:c.C1176G:p.C392W;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon8:c.C1182G:p.C394W;ENSG00000170579:ENST00000515196:exon9:c.C2058G:p.C686W;ENSG00000170579:ENST00000581699:exon7:c.C1176G:p.C392W;ENSG00000170579:ENST00000400145:exon7:c.C1152G:p.C384W;ENSG00000170579:ENST00000400147:exon7:c.C1152G:p.C384W;ENSG00000170579:ENST00000584874:exon7:c.C2058G:p.C686W;ENSG00000170579:ENST00000315677:exon10:c.C2058G:p.C686W;ENSG00000170579:ENST00000400149:exon8:c.C1128G:p.C376W;ENSG00000170579:ENST00000400155:exon7:c.C1176G:p.C392W;ENSG00000170579:ENST00000581527:exon10:c.C2058G:p.C686W;ENSG00000170579:ENST00000400150:exon8:c.C1206G:p.C402W;ENSG00000170579:ENST00000534970:exon7:c.C1110G:p.C370W;	5.83118197435561E-5	0.074
18	3534613	G	T	18	3534615	y	y	exonic	DLGAP1	stopgain SNV	DLGAP1:NM_001242761:exon10:c.C2058A:p.C686X;DLGAP1:NM_001242766:exon8:c.C1182A:p.C394X;DLGAP1:NM_001003809:exon7:c.C1152A:p.C384X;DLGAP1:NM_001242762:exon7:c.C1110A:p.C370X;DLGAP1:NM_001242763:exon8:c.C1224A:p.C408X;DLGAP1:NM_001242765:exon7:c.C1152A:p.C384X;DLGAP1:NM_004746:exon10:c.C2058A:p.C686X;DLGAP1:NM_001242764:exon7:c.C1176A:p.C392X;	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000539435:exon8:c.C1182A:p.C394X;ENSG00000170579:ENST00000515196:exon9:c.C2058A:p.C686X;ENSG00000170579:ENST00000581699:exon7:c.C1176A:p.C392X;ENSG00000170579:ENST00000400145:exon7:c.C1152A:p.C384X;ENSG00000170579:ENST00000400147:exon7:c.C1152A:p.C384X;ENSG00000170579:ENST00000584874:exon7:c.C2058A:p.C686X;ENSG00000170579:ENST00000315677:exon10:c.C2058A:p.C686X;ENSG00000170579:ENST00000400149:exon8:c.C1128A:p.C376X;ENSG00000170579:ENST00000400155:exon7:c.C1176A:p.C392X;ENSG00000170579:ENST00000581527:exon10:c.C2058A:p.C686X;ENSG00000170579:ENST00000400150:exon8:c.C1206A:p.C402X;ENSG00000170579:ENST00000534970:exon7:c.C1110A:p.C370X;	6.08243635226833E-5	0.344
18	3534614	C	A	18	3534616	y	y	splicing	DLGAP1(NM_004746:exon11:c.2058-1G>T;NM_001242766:exon9:c.1182-1G>T;NM_001242764:exon8:c.1176-1G>T;NM_001242763:exon9:c.1224-1G>T;NM_001242762:exon8:c.1110-1G>T;NM_001003809:exon8:c.1152-1G>T;NM_001242765:exon8:c.1152-1G>T;NM_001242761:exon11:c.2058-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2058-1G>T;ENST00000400150:exon9:c.1206-1G>T;ENST00000400155:exon8:c.1176-1G>T;ENST00000400149:exon9:c.1128-1G>T;ENST00000400147:exon8:c.1152-1G>T;ENST00000584874:exon8:c.2058-1G>T;ENST00000534970:exon8:c.1110-1G>T;ENST00000539435:exon9:c.1182-1G>T;ENST00000581699:exon8:c.1176-1G>T;ENST00000400145:exon8:c.1152-1G>T;ENST00000515196:exon10:c.2058-1G>T;ENST00000581527:exon11:c.2058-1G>T)	.	.	0.999947457575714	0.948
18	3534614	C	G	18	3534616	y	y	splicing	DLGAP1(NM_004746:exon11:c.2058-1G>C;NM_001242766:exon9:c.1182-1G>C;NM_001242764:exon8:c.1176-1G>C;NM_001242763:exon9:c.1224-1G>C;NM_001242762:exon8:c.1110-1G>C;NM_001003809:exon8:c.1152-1G>C;NM_001242765:exon8:c.1152-1G>C;NM_001242761:exon11:c.2058-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2058-1G>C;ENST00000400150:exon9:c.1206-1G>C;ENST00000400155:exon8:c.1176-1G>C;ENST00000400149:exon9:c.1128-1G>C;ENST00000400147:exon8:c.1152-1G>C;ENST00000584874:exon8:c.2058-1G>C;ENST00000534970:exon8:c.1110-1G>C;ENST00000539435:exon9:c.1182-1G>C;ENST00000581699:exon8:c.1176-1G>C;ENST00000400145:exon8:c.1152-1G>C;ENST00000515196:exon10:c.2058-1G>C;ENST00000581527:exon11:c.2058-1G>C)	.	.	0.999947942014418	0.952
18	3534614	C	T	18	3534616	y	y	splicing	DLGAP1(NM_004746:exon11:c.2058-1G>A;NM_001242766:exon9:c.1182-1G>A;NM_001242764:exon8:c.1176-1G>A;NM_001242763:exon9:c.1224-1G>A;NM_001242762:exon8:c.1110-1G>A;NM_001003809:exon8:c.1152-1G>A;NM_001242765:exon8:c.1152-1G>A;NM_001242761:exon11:c.2058-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2058-1G>A;ENST00000400150:exon9:c.1206-1G>A;ENST00000400155:exon8:c.1176-1G>A;ENST00000400149:exon9:c.1128-1G>A;ENST00000400147:exon8:c.1152-1G>A;ENST00000584874:exon8:c.2058-1G>A;ENST00000534970:exon8:c.1110-1G>A;ENST00000539435:exon9:c.1182-1G>A;ENST00000581699:exon8:c.1176-1G>A;ENST00000400145:exon8:c.1152-1G>A;ENST00000515196:exon10:c.2058-1G>A;ENST00000581527:exon11:c.2058-1G>A)	.	.	0.999947457575714	0.948
18	3534615	T	A	18	3534617	y	y	splicing	DLGAP1(NM_004746:exon11:c.2058-2A>T;NM_001242766:exon9:c.1182-2A>T;NM_001242764:exon8:c.1176-2A>T;NM_001242763:exon9:c.1224-2A>T;NM_001242762:exon8:c.1110-2A>T;NM_001003809:exon8:c.1152-2A>T;NM_001242765:exon8:c.1152-2A>T;NM_001242761:exon11:c.2058-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2058-2A>T;ENST00000400150:exon9:c.1206-2A>T;ENST00000400155:exon8:c.1176-2A>T;ENST00000400149:exon9:c.1128-2A>T;ENST00000400147:exon8:c.1152-2A>T;ENST00000584874:exon8:c.2058-2A>T;ENST00000534970:exon8:c.1110-2A>T;ENST00000539435:exon9:c.1182-2A>T;ENST00000581699:exon8:c.1176-2A>T;ENST00000400145:exon8:c.1152-2A>T;ENST00000515196:exon10:c.2058-2A>T;ENST00000581527:exon11:c.2058-2A>T)	.	.	0.999957711392063	0.956
18	3534615	T	C	18	3534617	y	y	splicing	DLGAP1(NM_004746:exon11:c.2058-2A>G;NM_001242766:exon9:c.1182-2A>G;NM_001242764:exon8:c.1176-2A>G;NM_001242763:exon9:c.1224-2A>G;NM_001242762:exon8:c.1110-2A>G;NM_001003809:exon8:c.1152-2A>G;NM_001242765:exon8:c.1152-2A>G;NM_001242761:exon11:c.2058-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2058-2A>G;ENST00000400150:exon9:c.1206-2A>G;ENST00000400155:exon8:c.1176-2A>G;ENST00000400149:exon9:c.1128-2A>G;ENST00000400147:exon8:c.1152-2A>G;ENST00000584874:exon8:c.2058-2A>G;ENST00000534970:exon8:c.1110-2A>G;ENST00000539435:exon9:c.1182-2A>G;ENST00000581699:exon8:c.1176-2A>G;ENST00000400145:exon8:c.1152-2A>G;ENST00000515196:exon10:c.2058-2A>G;ENST00000581527:exon11:c.2058-2A>G)	.	.	0.999972413313263	0.954
18	3534615	T	G	18	3534617	y	y	splicing	DLGAP1(NM_004746:exon11:c.2058-2A>C;NM_001242766:exon9:c.1182-2A>C;NM_001242764:exon8:c.1176-2A>C;NM_001242763:exon9:c.1224-2A>C;NM_001242762:exon8:c.1110-2A>C;NM_001003809:exon8:c.1152-2A>C;NM_001242765:exon8:c.1152-2A>C;NM_001242761:exon11:c.2058-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon11:c.2058-2A>C;ENST00000400150:exon9:c.1206-2A>C;ENST00000400155:exon8:c.1176-2A>C;ENST00000400149:exon9:c.1128-2A>C;ENST00000400147:exon8:c.1152-2A>C;ENST00000584874:exon8:c.2058-2A>C;ENST00000534970:exon8:c.1110-2A>C;ENST00000539435:exon9:c.1182-2A>C;ENST00000581699:exon8:c.1176-2A>C;ENST00000400145:exon8:c.1152-2A>C;ENST00000515196:exon10:c.2058-2A>C;ENST00000581527:exon11:c.2058-2A>C)	.	.	0.999972413313263	0.954
18	3534616	T	A	18	3534618	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.31878710842967E-4	0.044
18	3534616	T	C	18	3534618	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.29702324409591	0.54
18	3534616	T	G	18	3534618	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.74527152201991E-5	0.136
18	3534617	G	A	18	3534619	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.2718946333922E-5	0.028
18	3534617	G	C	18	3534619	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.02085343580707E-5	0.028
18	3534617	G	T	18	3534619	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.40147915954388E-5	0.034
18	3534618	G	A	18	3534620	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.21628458061193E-5	0.0
18	3534618	G	C	18	3534620	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00127156333725619	0.166
18	3534618	G	T	18	3534620	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00127156333725619	0.132
18	3534619	G	A	18	3534621	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.16305358345108E-5	0.008
18	3534619	G	C	18	3534621	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00655224220497269	0.252
18	3534619	G	T	18	3534621	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00472702622501687	0.19
18	3534620	A	C	18	3534622	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0968950525658371	0.142
18	3534620	A	G	18	3534622	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.86126459798731E-5	0.032
18	3534620	A	T	18	3534622	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0528273531040157	0.114
18	3534621	G	A	18	3534623	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.76727643710865E-5	0.046
18	3534621	G	C	18	3534623	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.25266969543568E-4	0.06
18	3534621	G	T	18	3534623	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.76990310289672E-4	0.076
18	3534622	A	C	18	3534624	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.5636780358734E-4	0.104
18	3534622	A	G	18	3534624	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.52657865379509E-4	0.022
18	3534622	A	T	18	3534624	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00107667005048647	0.098
18	3534623	A	C	18	3534625	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.99977354071977	0.964
18	3534623	A	G	18	3534625	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.13080396405518E-4	0.142
18	3534623	A	T	18	3534625	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00155373404650814	0.26
18	3534624	T	A	18	3534626	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.25424008690113E-5	0.166
18	3534624	T	C	18	3534626	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.87517213499156E-5	0.146
18	3534624	T	G	18	3534626	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.83631956174135E-5	0.088
18	3534625	A	C	18	3534627	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00489042037508431	0.284
18	3534625	A	G	18	3534627	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.6121878956266E-4	0.176
18	3534625	A	T	18	3534627	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00427688444911332	0.316
18	3567480	G	A	18	3567482	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.75289494538373E-5	0.0
18	3567480	G	C	18	3567482	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.52932449848953E-5	0.006
18	3567480	G	T	18	3567482	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.75289494538373E-5	0.018
18	3567481	G	A	18	3567483	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.69930370103191E-5	0.0
18	3567481	G	C	18	3567483	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.57076726553018E-5	0.0
18	3567481	G	T	18	3567483	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.57076726553018E-5	0.0
18	3567482	A	C	18	3567484	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0897753814696368	0.378
18	3567482	A	G	18	3567484	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.29576821046835	0.56
18	3567482	A	T	18	3567484	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.322990697399073	0.498
18	3567483	C	A	18	3567485	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999367050668656	0.908
18	3567483	C	G	18	3567485	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999651566861304	0.884
18	3567483	C	T	18	3567485	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999463063985479	0.928
18	3567484	T	A	18	3567486	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.252103999441971	0.544
18	3567484	T	C	18	3567486	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.59438205245355	0.586
18	3567484	T	G	18	3567486	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.260570780907902	0.422
18	3567485	T	A	18	3567487	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.650668471458483	0.516
18	3567485	T	C	18	3567487	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.87370243428255E-4	0.002
18	3567485	T	G	18	3567487	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.869800815078563	0.612
18	3567486	A	C	18	3567488	y	y	splicing	DLGAP1(NM_004746:exon10:c.2057+2T>G;NM_001242766:exon8:c.1181+2T>G;NM_001242764:exon7:c.1175+2T>G;NM_001242763:exon8:c.1223+2T>G;NM_001242762:exon7:c.1109+2T>G;NM_001003809:exon7:c.1151+2T>G;NM_001242765:exon7:c.1151+2T>G;NM_001242761:exon10:c.2057+2T>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.2057+2T>G;ENST00000400150:exon8:c.1205+2T>G;ENST00000400155:exon7:c.1175+2T>G;ENST00000400149:exon8:c.1127+2T>G;ENST00000400147:exon7:c.1151+2T>G;ENST00000584874:exon7:c.2057+2T>G;ENST00000534970:exon7:c.1109+2T>G;ENST00000539435:exon8:c.1181+2T>G;ENST00000581699:exon7:c.1175+2T>G;ENST00000400145:exon7:c.1151+2T>G;ENST00000515196:exon9:c.2057+2T>G;ENST00000581527:exon10:c.2057+2T>G)	.	.	0.999971317418422	0.888
18	3567486	A	G	18	3567488	y	y	splicing	DLGAP1(NM_004746:exon10:c.2057+2T>C;NM_001242766:exon8:c.1181+2T>C;NM_001242764:exon7:c.1175+2T>C;NM_001242763:exon8:c.1223+2T>C;NM_001242762:exon7:c.1109+2T>C;NM_001003809:exon7:c.1151+2T>C;NM_001242765:exon7:c.1151+2T>C;NM_001242761:exon10:c.2057+2T>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.2057+2T>C;ENST00000400150:exon8:c.1205+2T>C;ENST00000400155:exon7:c.1175+2T>C;ENST00000400149:exon8:c.1127+2T>C;ENST00000400147:exon7:c.1151+2T>C;ENST00000584874:exon7:c.2057+2T>C;ENST00000534970:exon7:c.1109+2T>C;ENST00000539435:exon8:c.1181+2T>C;ENST00000581699:exon7:c.1175+2T>C;ENST00000400145:exon7:c.1151+2T>C;ENST00000515196:exon9:c.2057+2T>C;ENST00000581527:exon10:c.2057+2T>C)	.	.	0.967788928859094	0.604
18	3567486	A	T	18	3567488	y	y	splicing	DLGAP1(NM_004746:exon10:c.2057+2T>A;NM_001242766:exon8:c.1181+2T>A;NM_001242764:exon7:c.1175+2T>A;NM_001242763:exon8:c.1223+2T>A;NM_001242762:exon7:c.1109+2T>A;NM_001003809:exon7:c.1151+2T>A;NM_001242765:exon7:c.1151+2T>A;NM_001242761:exon10:c.2057+2T>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.2057+2T>A;ENST00000400150:exon8:c.1205+2T>A;ENST00000400155:exon7:c.1175+2T>A;ENST00000400149:exon8:c.1127+2T>A;ENST00000400147:exon7:c.1151+2T>A;ENST00000584874:exon7:c.2057+2T>A;ENST00000534970:exon7:c.1109+2T>A;ENST00000539435:exon8:c.1181+2T>A;ENST00000581699:exon7:c.1175+2T>A;ENST00000400145:exon7:c.1151+2T>A;ENST00000515196:exon9:c.2057+2T>A;ENST00000581527:exon10:c.2057+2T>A)	.	.	0.999971317418422	0.894
18	3567487	C	A	18	3567489	y	y	splicing	DLGAP1(NM_004746:exon10:c.2057+1G>T;NM_001242766:exon8:c.1181+1G>T;NM_001242764:exon7:c.1175+1G>T;NM_001242763:exon8:c.1223+1G>T;NM_001242762:exon7:c.1109+1G>T;NM_001003809:exon7:c.1151+1G>T;NM_001242765:exon7:c.1151+1G>T;NM_001242761:exon10:c.2057+1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.2057+1G>T;ENST00000400150:exon8:c.1205+1G>T;ENST00000400155:exon7:c.1175+1G>T;ENST00000400149:exon8:c.1127+1G>T;ENST00000400147:exon7:c.1151+1G>T;ENST00000584874:exon7:c.2057+1G>T;ENST00000534970:exon7:c.1109+1G>T;ENST00000539435:exon8:c.1181+1G>T;ENST00000581699:exon7:c.1175+1G>T;ENST00000400145:exon7:c.1151+1G>T;ENST00000515196:exon9:c.2057+1G>T;ENST00000581527:exon10:c.2057+1G>T)	.	.	0.999976475802857	0.908
18	3567487	C	G	18	3567489	y	y	splicing	DLGAP1(NM_004746:exon10:c.2057+1G>C;NM_001242766:exon8:c.1181+1G>C;NM_001242764:exon7:c.1175+1G>C;NM_001242763:exon8:c.1223+1G>C;NM_001242762:exon7:c.1109+1G>C;NM_001003809:exon7:c.1151+1G>C;NM_001242765:exon7:c.1151+1G>C;NM_001242761:exon10:c.2057+1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.2057+1G>C;ENST00000400150:exon8:c.1205+1G>C;ENST00000400155:exon7:c.1175+1G>C;ENST00000400149:exon8:c.1127+1G>C;ENST00000400147:exon7:c.1151+1G>C;ENST00000584874:exon7:c.2057+1G>C;ENST00000534970:exon7:c.1109+1G>C;ENST00000539435:exon8:c.1181+1G>C;ENST00000581699:exon7:c.1175+1G>C;ENST00000400145:exon7:c.1151+1G>C;ENST00000515196:exon9:c.2057+1G>C;ENST00000581527:exon10:c.2057+1G>C)	.	.	0.99997775019564	0.896
18	3567487	C	T	18	3567489	y	y	splicing	DLGAP1(NM_004746:exon10:c.2057+1G>A;NM_001242766:exon8:c.1181+1G>A;NM_001242764:exon7:c.1175+1G>A;NM_001242763:exon8:c.1223+1G>A;NM_001242762:exon7:c.1109+1G>A;NM_001003809:exon7:c.1151+1G>A;NM_001242765:exon7:c.1151+1G>A;NM_001242761:exon10:c.2057+1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.2057+1G>A;ENST00000400150:exon8:c.1205+1G>A;ENST00000400155:exon7:c.1175+1G>A;ENST00000400149:exon8:c.1127+1G>A;ENST00000400147:exon7:c.1151+1G>A;ENST00000584874:exon7:c.2057+1G>A;ENST00000534970:exon7:c.1109+1G>A;ENST00000539435:exon8:c.1181+1G>A;ENST00000581699:exon7:c.1175+1G>A;ENST00000400145:exon7:c.1151+1G>A;ENST00000515196:exon9:c.2057+1G>A;ENST00000581527:exon10:c.2057+1G>A)	.	.	0.999976475802857	0.908
18	3567488	C	A	18	3567490	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.G2057T:p.C686F;DLGAP1:NM_001242766:exon7:c.G1181T:p.C394F;DLGAP1:NM_001003809:exon6:c.G1151T:p.C384F;DLGAP1:NM_001242762:exon6:c.G1109T:p.C370F;DLGAP1:NM_001242763:exon7:c.G1223T:p.C408F;DLGAP1:NM_001242765:exon6:c.G1151T:p.C384F;DLGAP1:NM_004746:exon9:c.G2057T:p.C686F;DLGAP1:NM_001242764:exon6:c.G1175T:p.C392F;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1181T:p.C394F;ENSG00000170579:ENST00000515196:exon8:c.G2057T:p.C686F;ENSG00000170579:ENST00000581699:exon6:c.G1175T:p.C392F;ENSG00000170579:ENST00000400145:exon6:c.G1151T:p.C384F;ENSG00000170579:ENST00000400147:exon6:c.G1151T:p.C384F;ENSG00000170579:ENST00000584874:exon6:c.G2057T:p.C686F;ENSG00000170579:ENST00000315677:exon9:c.G2057T:p.C686F;ENSG00000170579:ENST00000400149:exon7:c.G1127T:p.C376F;ENSG00000170579:ENST00000400155:exon6:c.G1175T:p.C392F;ENSG00000170579:ENST00000581527:exon9:c.G2057T:p.C686F;ENSG00000170579:ENST00000400150:exon7:c.G1205T:p.C402F;ENSG00000170579:ENST00000534970:exon6:c.G1109T:p.C370F;	0.951641130824696	0.544
18	3567488	C	G	18	3567490	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.G2057C:p.C686S;DLGAP1:NM_001242766:exon7:c.G1181C:p.C394S;DLGAP1:NM_001003809:exon6:c.G1151C:p.C384S;DLGAP1:NM_001242762:exon6:c.G1109C:p.C370S;DLGAP1:NM_001242763:exon7:c.G1223C:p.C408S;DLGAP1:NM_001242765:exon6:c.G1151C:p.C384S;DLGAP1:NM_004746:exon9:c.G2057C:p.C686S;DLGAP1:NM_001242764:exon6:c.G1175C:p.C392S;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1181C:p.C394S;ENSG00000170579:ENST00000515196:exon8:c.G2057C:p.C686S;ENSG00000170579:ENST00000581699:exon6:c.G1175C:p.C392S;ENSG00000170579:ENST00000400145:exon6:c.G1151C:p.C384S;ENSG00000170579:ENST00000400147:exon6:c.G1151C:p.C384S;ENSG00000170579:ENST00000584874:exon6:c.G2057C:p.C686S;ENSG00000170579:ENST00000315677:exon9:c.G2057C:p.C686S;ENSG00000170579:ENST00000400149:exon7:c.G1127C:p.C376S;ENSG00000170579:ENST00000400155:exon6:c.G1175C:p.C392S;ENSG00000170579:ENST00000581527:exon9:c.G2057C:p.C686S;ENSG00000170579:ENST00000400150:exon7:c.G1205C:p.C402S;ENSG00000170579:ENST00000534970:exon6:c.G1109C:p.C370S;	0.955565157235801	0.47
18	3567488	C	T	18	3567490	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.G2057A:p.C686Y;DLGAP1:NM_001242766:exon7:c.G1181A:p.C394Y;DLGAP1:NM_001003809:exon6:c.G1151A:p.C384Y;DLGAP1:NM_001242762:exon6:c.G1109A:p.C370Y;DLGAP1:NM_001242763:exon7:c.G1223A:p.C408Y;DLGAP1:NM_001242765:exon6:c.G1151A:p.C384Y;DLGAP1:NM_004746:exon9:c.G2057A:p.C686Y;DLGAP1:NM_001242764:exon6:c.G1175A:p.C392Y;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1181A:p.C394Y;ENSG00000170579:ENST00000515196:exon8:c.G2057A:p.C686Y;ENSG00000170579:ENST00000581699:exon6:c.G1175A:p.C392Y;ENSG00000170579:ENST00000400145:exon6:c.G1151A:p.C384Y;ENSG00000170579:ENST00000400147:exon6:c.G1151A:p.C384Y;ENSG00000170579:ENST00000584874:exon6:c.G2057A:p.C686Y;ENSG00000170579:ENST00000315677:exon9:c.G2057A:p.C686Y;ENSG00000170579:ENST00000400149:exon7:c.G1127A:p.C376Y;ENSG00000170579:ENST00000400155:exon6:c.G1175A:p.C392Y;ENSG00000170579:ENST00000581527:exon9:c.G2057A:p.C686Y;ENSG00000170579:ENST00000400150:exon7:c.G1205A:p.C402Y;ENSG00000170579:ENST00000534970:exon6:c.G1109A:p.C370Y;	0.8155431513697	0.446
18	3567489	A	C	18	3567491	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.T2056G:p.C686G;DLGAP1:NM_001242766:exon7:c.T1180G:p.C394G;DLGAP1:NM_001003809:exon6:c.T1150G:p.C384G;DLGAP1:NM_001242762:exon6:c.T1108G:p.C370G;DLGAP1:NM_001242763:exon7:c.T1222G:p.C408G;DLGAP1:NM_001242765:exon6:c.T1150G:p.C384G;DLGAP1:NM_004746:exon9:c.T2056G:p.C686G;DLGAP1:NM_001242764:exon6:c.T1174G:p.C392G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.T1180G:p.C394G;ENSG00000170579:ENST00000515196:exon8:c.T2056G:p.C686G;ENSG00000170579:ENST00000581699:exon6:c.T1174G:p.C392G;ENSG00000170579:ENST00000400145:exon6:c.T1150G:p.C384G;ENSG00000170579:ENST00000400147:exon6:c.T1150G:p.C384G;ENSG00000170579:ENST00000584874:exon6:c.T2056G:p.C686G;ENSG00000170579:ENST00000315677:exon9:c.T2056G:p.C686G;ENSG00000170579:ENST00000400149:exon7:c.T1126G:p.C376G;ENSG00000170579:ENST00000400155:exon6:c.T1174G:p.C392G;ENSG00000170579:ENST00000581527:exon9:c.T2056G:p.C686G;ENSG00000170579:ENST00000400150:exon7:c.T1204G:p.C402G;ENSG00000170579:ENST00000534970:exon6:c.T1108G:p.C370G;	5.4800701357984E-4	0.11
18	3567489	A	G	18	3567491	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.T2056C:p.C686R;DLGAP1:NM_001242766:exon7:c.T1180C:p.C394R;DLGAP1:NM_001003809:exon6:c.T1150C:p.C384R;DLGAP1:NM_001242762:exon6:c.T1108C:p.C370R;DLGAP1:NM_001242763:exon7:c.T1222C:p.C408R;DLGAP1:NM_001242765:exon6:c.T1150C:p.C384R;DLGAP1:NM_004746:exon9:c.T2056C:p.C686R;DLGAP1:NM_001242764:exon6:c.T1174C:p.C392R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.T1180C:p.C394R;ENSG00000170579:ENST00000515196:exon8:c.T2056C:p.C686R;ENSG00000170579:ENST00000581699:exon6:c.T1174C:p.C392R;ENSG00000170579:ENST00000400145:exon6:c.T1150C:p.C384R;ENSG00000170579:ENST00000400147:exon6:c.T1150C:p.C384R;ENSG00000170579:ENST00000584874:exon6:c.T2056C:p.C686R;ENSG00000170579:ENST00000315677:exon9:c.T2056C:p.C686R;ENSG00000170579:ENST00000400149:exon7:c.T1126C:p.C376R;ENSG00000170579:ENST00000400155:exon6:c.T1174C:p.C392R;ENSG00000170579:ENST00000581527:exon9:c.T2056C:p.C686R;ENSG00000170579:ENST00000400150:exon7:c.T1204C:p.C402R;ENSG00000170579:ENST00000534970:exon6:c.T1108C:p.C370R;	2.37688542063464E-4	0.076
18	3567489	A	T	18	3567491	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.T2056A:p.C686S;DLGAP1:NM_001242766:exon7:c.T1180A:p.C394S;DLGAP1:NM_001003809:exon6:c.T1150A:p.C384S;DLGAP1:NM_001242762:exon6:c.T1108A:p.C370S;DLGAP1:NM_001242763:exon7:c.T1222A:p.C408S;DLGAP1:NM_001242765:exon6:c.T1150A:p.C384S;DLGAP1:NM_004746:exon9:c.T2056A:p.C686S;DLGAP1:NM_001242764:exon6:c.T1174A:p.C392S;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.T1180A:p.C394S;ENSG00000170579:ENST00000515196:exon8:c.T2056A:p.C686S;ENSG00000170579:ENST00000581699:exon6:c.T1174A:p.C392S;ENSG00000170579:ENST00000400145:exon6:c.T1150A:p.C384S;ENSG00000170579:ENST00000400147:exon6:c.T1150A:p.C384S;ENSG00000170579:ENST00000584874:exon6:c.T2056A:p.C686S;ENSG00000170579:ENST00000315677:exon9:c.T2056A:p.C686S;ENSG00000170579:ENST00000400149:exon7:c.T1126A:p.C376S;ENSG00000170579:ENST00000400155:exon6:c.T1174A:p.C392S;ENSG00000170579:ENST00000581527:exon9:c.T2056A:p.C686S;ENSG00000170579:ENST00000400150:exon7:c.T1204A:p.C402S;ENSG00000170579:ENST00000534970:exon6:c.T1108A:p.C370S;	5.64599408417215E-4	0.088
18	3567490	C	A	18	3567492	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.G2055T:p.K685N;DLGAP1:NM_001242766:exon7:c.G1179T:p.K393N;DLGAP1:NM_001003809:exon6:c.G1149T:p.K383N;DLGAP1:NM_001242762:exon6:c.G1107T:p.K369N;DLGAP1:NM_001242763:exon7:c.G1221T:p.K407N;DLGAP1:NM_001242765:exon6:c.G1149T:p.K383N;DLGAP1:NM_004746:exon9:c.G2055T:p.K685N;DLGAP1:NM_001242764:exon6:c.G1173T:p.K391N;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1179T:p.K393N;ENSG00000170579:ENST00000515196:exon8:c.G2055T:p.K685N;ENSG00000170579:ENST00000581699:exon6:c.G1173T:p.K391N;ENSG00000170579:ENST00000400145:exon6:c.G1149T:p.K383N;ENSG00000170579:ENST00000400147:exon6:c.G1149T:p.K383N;ENSG00000170579:ENST00000584874:exon6:c.G2055T:p.K685N;ENSG00000170579:ENST00000315677:exon9:c.G2055T:p.K685N;ENSG00000170579:ENST00000400149:exon7:c.G1125T:p.K375N;ENSG00000170579:ENST00000400155:exon6:c.G1173T:p.K391N;ENSG00000170579:ENST00000581527:exon9:c.G2055T:p.K685N;ENSG00000170579:ENST00000400150:exon7:c.G1203T:p.K401N;ENSG00000170579:ENST00000534970:exon6:c.G1107T:p.K369N;	2.38818586250052E-4	0.022
18	3567490	C	G	18	3567492	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.G2055C:p.K685N;DLGAP1:NM_001242766:exon7:c.G1179C:p.K393N;DLGAP1:NM_001003809:exon6:c.G1149C:p.K383N;DLGAP1:NM_001242762:exon6:c.G1107C:p.K369N;DLGAP1:NM_001242763:exon7:c.G1221C:p.K407N;DLGAP1:NM_001242765:exon6:c.G1149C:p.K383N;DLGAP1:NM_004746:exon9:c.G2055C:p.K685N;DLGAP1:NM_001242764:exon6:c.G1173C:p.K391N;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1179C:p.K393N;ENSG00000170579:ENST00000515196:exon8:c.G2055C:p.K685N;ENSG00000170579:ENST00000581699:exon6:c.G1173C:p.K391N;ENSG00000170579:ENST00000400145:exon6:c.G1149C:p.K383N;ENSG00000170579:ENST00000400147:exon6:c.G1149C:p.K383N;ENSG00000170579:ENST00000584874:exon6:c.G2055C:p.K685N;ENSG00000170579:ENST00000315677:exon9:c.G2055C:p.K685N;ENSG00000170579:ENST00000400149:exon7:c.G1125C:p.K375N;ENSG00000170579:ENST00000400155:exon6:c.G1173C:p.K391N;ENSG00000170579:ENST00000581527:exon9:c.G2055C:p.K685N;ENSG00000170579:ENST00000400150:exon7:c.G1203C:p.K401N;ENSG00000170579:ENST00000534970:exon6:c.G1107C:p.K369N;	5.00840838823829E-5	0.01
18	3567490	C	T	18	3567492	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon9:c.G2055A:p.K685K;DLGAP1:NM_001242766:exon7:c.G1179A:p.K393K;DLGAP1:NM_001003809:exon6:c.G1149A:p.K383K;DLGAP1:NM_001242762:exon6:c.G1107A:p.K369K;DLGAP1:NM_001242763:exon7:c.G1221A:p.K407K;DLGAP1:NM_001242765:exon6:c.G1149A:p.K383K;DLGAP1:NM_004746:exon9:c.G2055A:p.K685K;DLGAP1:NM_001242764:exon6:c.G1173A:p.K391K;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1179A:p.K393K;ENSG00000170579:ENST00000515196:exon8:c.G2055A:p.K685K;ENSG00000170579:ENST00000581699:exon6:c.G1173A:p.K391K;ENSG00000170579:ENST00000400145:exon6:c.G1149A:p.K383K;ENSG00000170579:ENST00000400147:exon6:c.G1149A:p.K383K;ENSG00000170579:ENST00000584874:exon6:c.G2055A:p.K685K;ENSG00000170579:ENST00000315677:exon9:c.G2055A:p.K685K;ENSG00000170579:ENST00000400149:exon7:c.G1125A:p.K375K;ENSG00000170579:ENST00000400155:exon6:c.G1173A:p.K391K;ENSG00000170579:ENST00000581527:exon9:c.G2055A:p.K685K;ENSG00000170579:ENST00000400150:exon7:c.G1203A:p.K401K;ENSG00000170579:ENST00000534970:exon6:c.G1107A:p.K369K;	1.67489366992587E-5	0.002
18	3567578	A	C	18	3567580	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.T1967G:p.V656G;DLGAP1:NM_001242766:exon7:c.T1091G:p.V364G;DLGAP1:NM_001003809:exon6:c.T1061G:p.V354G;DLGAP1:NM_001242762:exon6:c.T1019G:p.V340G;DLGAP1:NM_001242763:exon7:c.T1133G:p.V378G;DLGAP1:NM_001242765:exon6:c.T1061G:p.V354G;DLGAP1:NM_004746:exon9:c.T1967G:p.V656G;DLGAP1:NM_001242764:exon6:c.T1085G:p.V362G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.T1091G:p.V364G;ENSG00000170579:ENST00000515196:exon8:c.T1967G:p.V656G;ENSG00000170579:ENST00000581699:exon6:c.T1085G:p.V362G;ENSG00000170579:ENST00000400145:exon6:c.T1061G:p.V354G;ENSG00000170579:ENST00000400147:exon6:c.T1061G:p.V354G;ENSG00000170579:ENST00000584874:exon6:c.T1967G:p.V656G;ENSG00000170579:ENST00000315677:exon9:c.T1967G:p.V656G;ENSG00000170579:ENST00000400149:exon7:c.T1037G:p.V346G;ENSG00000170579:ENST00000400155:exon6:c.T1085G:p.V362G;ENSG00000170579:ENST00000581527:exon9:c.T1967G:p.V656G;ENSG00000170579:ENST00000400150:exon7:c.T1115G:p.V372G;ENSG00000170579:ENST00000534970:exon6:c.T1019G:p.V340G;	0.297100211018292	0.468
18	3567578	A	G	18	3567580	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.T1967C:p.V656A;DLGAP1:NM_001242766:exon7:c.T1091C:p.V364A;DLGAP1:NM_001003809:exon6:c.T1061C:p.V354A;DLGAP1:NM_001242762:exon6:c.T1019C:p.V340A;DLGAP1:NM_001242763:exon7:c.T1133C:p.V378A;DLGAP1:NM_001242765:exon6:c.T1061C:p.V354A;DLGAP1:NM_004746:exon9:c.T1967C:p.V656A;DLGAP1:NM_001242764:exon6:c.T1085C:p.V362A;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.T1091C:p.V364A;ENSG00000170579:ENST00000515196:exon8:c.T1967C:p.V656A;ENSG00000170579:ENST00000581699:exon6:c.T1085C:p.V362A;ENSG00000170579:ENST00000400145:exon6:c.T1061C:p.V354A;ENSG00000170579:ENST00000400147:exon6:c.T1061C:p.V354A;ENSG00000170579:ENST00000584874:exon6:c.T1967C:p.V656A;ENSG00000170579:ENST00000315677:exon9:c.T1967C:p.V656A;ENSG00000170579:ENST00000400149:exon7:c.T1037C:p.V346A;ENSG00000170579:ENST00000400155:exon6:c.T1085C:p.V362A;ENSG00000170579:ENST00000581527:exon9:c.T1967C:p.V656A;ENSG00000170579:ENST00000400150:exon7:c.T1115C:p.V372A;ENSG00000170579:ENST00000534970:exon6:c.T1019C:p.V340A;	0.404450979191928	0.586
18	3567578	A	T	18	3567580	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.T1967A:p.V656E;DLGAP1:NM_001242766:exon7:c.T1091A:p.V364E;DLGAP1:NM_001003809:exon6:c.T1061A:p.V354E;DLGAP1:NM_001242762:exon6:c.T1019A:p.V340E;DLGAP1:NM_001242763:exon7:c.T1133A:p.V378E;DLGAP1:NM_001242765:exon6:c.T1061A:p.V354E;DLGAP1:NM_004746:exon9:c.T1967A:p.V656E;DLGAP1:NM_001242764:exon6:c.T1085A:p.V362E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.T1091A:p.V364E;ENSG00000170579:ENST00000515196:exon8:c.T1967A:p.V656E;ENSG00000170579:ENST00000581699:exon6:c.T1085A:p.V362E;ENSG00000170579:ENST00000400145:exon6:c.T1061A:p.V354E;ENSG00000170579:ENST00000400147:exon6:c.T1061A:p.V354E;ENSG00000170579:ENST00000584874:exon6:c.T1967A:p.V656E;ENSG00000170579:ENST00000315677:exon9:c.T1967A:p.V656E;ENSG00000170579:ENST00000400149:exon7:c.T1037A:p.V346E;ENSG00000170579:ENST00000400155:exon6:c.T1085A:p.V362E;ENSG00000170579:ENST00000581527:exon9:c.T1967A:p.V656E;ENSG00000170579:ENST00000400150:exon7:c.T1115A:p.V372E;ENSG00000170579:ENST00000534970:exon6:c.T1019A:p.V340E;	0.673960309682745	0.53
18	3567579	C	A	18	3567581	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.G1966T:p.V656L;DLGAP1:NM_001242766:exon7:c.G1090T:p.V364L;DLGAP1:NM_001003809:exon6:c.G1060T:p.V354L;DLGAP1:NM_001242762:exon6:c.G1018T:p.V340L;DLGAP1:NM_001242763:exon7:c.G1132T:p.V378L;DLGAP1:NM_001242765:exon6:c.G1060T:p.V354L;DLGAP1:NM_004746:exon9:c.G1966T:p.V656L;DLGAP1:NM_001242764:exon6:c.G1084T:p.V362L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1090T:p.V364L;ENSG00000170579:ENST00000515196:exon8:c.G1966T:p.V656L;ENSG00000170579:ENST00000581699:exon6:c.G1084T:p.V362L;ENSG00000170579:ENST00000400145:exon6:c.G1060T:p.V354L;ENSG00000170579:ENST00000400147:exon6:c.G1060T:p.V354L;ENSG00000170579:ENST00000584874:exon6:c.G1966T:p.V656L;ENSG00000170579:ENST00000315677:exon9:c.G1966T:p.V656L;ENSG00000170579:ENST00000400149:exon7:c.G1036T:p.V346L;ENSG00000170579:ENST00000400155:exon6:c.G1084T:p.V362L;ENSG00000170579:ENST00000581527:exon9:c.G1966T:p.V656L;ENSG00000170579:ENST00000400150:exon7:c.G1114T:p.V372L;ENSG00000170579:ENST00000534970:exon6:c.G1018T:p.V340L;	0.999806834738296	0.996
18	3567579	C	G	18	3567581	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.G1966C:p.V656L;DLGAP1:NM_001242766:exon7:c.G1090C:p.V364L;DLGAP1:NM_001003809:exon6:c.G1060C:p.V354L;DLGAP1:NM_001242762:exon6:c.G1018C:p.V340L;DLGAP1:NM_001242763:exon7:c.G1132C:p.V378L;DLGAP1:NM_001242765:exon6:c.G1060C:p.V354L;DLGAP1:NM_004746:exon9:c.G1966C:p.V656L;DLGAP1:NM_001242764:exon6:c.G1084C:p.V362L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1090C:p.V364L;ENSG00000170579:ENST00000515196:exon8:c.G1966C:p.V656L;ENSG00000170579:ENST00000581699:exon6:c.G1084C:p.V362L;ENSG00000170579:ENST00000400145:exon6:c.G1060C:p.V354L;ENSG00000170579:ENST00000400147:exon6:c.G1060C:p.V354L;ENSG00000170579:ENST00000584874:exon6:c.G1966C:p.V656L;ENSG00000170579:ENST00000315677:exon9:c.G1966C:p.V656L;ENSG00000170579:ENST00000400149:exon7:c.G1036C:p.V346L;ENSG00000170579:ENST00000400155:exon6:c.G1084C:p.V362L;ENSG00000170579:ENST00000581527:exon9:c.G1966C:p.V656L;ENSG00000170579:ENST00000400150:exon7:c.G1114C:p.V372L;ENSG00000170579:ENST00000534970:exon6:c.G1018C:p.V340L;	0.999724471201957	0.936
18	3567579	C	T	18	3567581	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon9:c.G1966A:p.V656M;DLGAP1:NM_001242766:exon7:c.G1090A:p.V364M;DLGAP1:NM_001003809:exon6:c.G1060A:p.V354M;DLGAP1:NM_001242762:exon6:c.G1018A:p.V340M;DLGAP1:NM_001242763:exon7:c.G1132A:p.V378M;DLGAP1:NM_001242765:exon6:c.G1060A:p.V354M;DLGAP1:NM_004746:exon9:c.G1966A:p.V656M;DLGAP1:NM_001242764:exon6:c.G1084A:p.V362M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon7:c.G1090A:p.V364M;ENSG00000170579:ENST00000515196:exon8:c.G1966A:p.V656M;ENSG00000170579:ENST00000581699:exon6:c.G1084A:p.V362M;ENSG00000170579:ENST00000400145:exon6:c.G1060A:p.V354M;ENSG00000170579:ENST00000400147:exon6:c.G1060A:p.V354M;ENSG00000170579:ENST00000584874:exon6:c.G1966A:p.V656M;ENSG00000170579:ENST00000315677:exon9:c.G1966A:p.V656M;ENSG00000170579:ENST00000400149:exon7:c.G1036A:p.V346M;ENSG00000170579:ENST00000400155:exon6:c.G1084A:p.V362M;ENSG00000170579:ENST00000581527:exon9:c.G1966A:p.V656M;ENSG00000170579:ENST00000400150:exon7:c.G1114A:p.V372M;ENSG00000170579:ENST00000534970:exon6:c.G1018A:p.V340M;	0.999052977951338	0.926
18	3567580	C	A	18	3567582	y	y	splicing	DLGAP1(NM_004746:exon10:c.1966-1G>T;NM_001242766:exon8:c.1090-1G>T;NM_001242764:exon7:c.1084-1G>T;NM_001242763:exon8:c.1132-1G>T;NM_001242762:exon7:c.1018-1G>T;NM_001003809:exon7:c.1060-1G>T;NM_001242765:exon7:c.1060-1G>T;NM_001242761:exon10:c.1966-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.1966-1G>T;ENST00000400150:exon8:c.1114-1G>T;ENST00000400155:exon7:c.1084-1G>T;ENST00000400149:exon8:c.1036-1G>T;ENST00000400147:exon7:c.1060-1G>T;ENST00000584874:exon7:c.1966-1G>T;ENST00000534970:exon7:c.1018-1G>T;ENST00000539435:exon8:c.1090-1G>T;ENST00000581699:exon7:c.1084-1G>T;ENST00000400145:exon7:c.1060-1G>T;ENST00000515196:exon9:c.1966-1G>T;ENST00000581527:exon10:c.1966-1G>T)	.	.	0.999990361384395	0.938
18	3567580	C	G	18	3567582	y	y	splicing	DLGAP1(NM_004746:exon10:c.1966-1G>C;NM_001242766:exon8:c.1090-1G>C;NM_001242764:exon7:c.1084-1G>C;NM_001242763:exon8:c.1132-1G>C;NM_001242762:exon7:c.1018-1G>C;NM_001003809:exon7:c.1060-1G>C;NM_001242765:exon7:c.1060-1G>C;NM_001242761:exon10:c.1966-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.1966-1G>C;ENST00000400150:exon8:c.1114-1G>C;ENST00000400155:exon7:c.1084-1G>C;ENST00000400149:exon8:c.1036-1G>C;ENST00000400147:exon7:c.1060-1G>C;ENST00000584874:exon7:c.1966-1G>C;ENST00000534970:exon7:c.1018-1G>C;ENST00000539435:exon8:c.1090-1G>C;ENST00000581699:exon7:c.1084-1G>C;ENST00000400145:exon7:c.1060-1G>C;ENST00000515196:exon9:c.1966-1G>C;ENST00000581527:exon10:c.1966-1G>C)	.	.	0.999990361384395	0.938
18	3567580	C	T	18	3567582	y	y	splicing	DLGAP1(NM_004746:exon10:c.1966-1G>A;NM_001242766:exon8:c.1090-1G>A;NM_001242764:exon7:c.1084-1G>A;NM_001242763:exon8:c.1132-1G>A;NM_001242762:exon7:c.1018-1G>A;NM_001003809:exon7:c.1060-1G>A;NM_001242765:exon7:c.1060-1G>A;NM_001242761:exon10:c.1966-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.1966-1G>A;ENST00000400150:exon8:c.1114-1G>A;ENST00000400155:exon7:c.1084-1G>A;ENST00000400149:exon8:c.1036-1G>A;ENST00000400147:exon7:c.1060-1G>A;ENST00000584874:exon7:c.1966-1G>A;ENST00000534970:exon7:c.1018-1G>A;ENST00000539435:exon8:c.1090-1G>A;ENST00000581699:exon7:c.1084-1G>A;ENST00000400145:exon7:c.1060-1G>A;ENST00000515196:exon9:c.1966-1G>A;ENST00000581527:exon10:c.1966-1G>A)	.	.	0.999990361384395	0.938
18	3567581	T	A	18	3567583	y	y	splicing	DLGAP1(NM_004746:exon10:c.1966-2A>T;NM_001242766:exon8:c.1090-2A>T;NM_001242764:exon7:c.1084-2A>T;NM_001242763:exon8:c.1132-2A>T;NM_001242762:exon7:c.1018-2A>T;NM_001003809:exon7:c.1060-2A>T;NM_001242765:exon7:c.1060-2A>T;NM_001242761:exon10:c.1966-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.1966-2A>T;ENST00000400150:exon8:c.1114-2A>T;ENST00000400155:exon7:c.1084-2A>T;ENST00000400149:exon8:c.1036-2A>T;ENST00000400147:exon7:c.1060-2A>T;ENST00000584874:exon7:c.1966-2A>T;ENST00000534970:exon7:c.1018-2A>T;ENST00000539435:exon8:c.1090-2A>T;ENST00000581699:exon7:c.1084-2A>T;ENST00000400145:exon7:c.1060-2A>T;ENST00000515196:exon9:c.1966-2A>T;ENST00000581527:exon10:c.1966-2A>T)	.	.	0.999988247793601	0.93
18	3567581	T	C	18	3567583	y	y	splicing	DLGAP1(NM_004746:exon10:c.1966-2A>G;NM_001242766:exon8:c.1090-2A>G;NM_001242764:exon7:c.1084-2A>G;NM_001242763:exon8:c.1132-2A>G;NM_001242762:exon7:c.1018-2A>G;NM_001003809:exon7:c.1060-2A>G;NM_001242765:exon7:c.1060-2A>G;NM_001242761:exon10:c.1966-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.1966-2A>G;ENST00000400150:exon8:c.1114-2A>G;ENST00000400155:exon7:c.1084-2A>G;ENST00000400149:exon8:c.1036-2A>G;ENST00000400147:exon7:c.1060-2A>G;ENST00000584874:exon7:c.1966-2A>G;ENST00000534970:exon7:c.1018-2A>G;ENST00000539435:exon8:c.1090-2A>G;ENST00000581699:exon7:c.1084-2A>G;ENST00000400145:exon7:c.1060-2A>G;ENST00000515196:exon9:c.1966-2A>G;ENST00000581527:exon10:c.1966-2A>G)	.	.	0.999988247793601	0.93
18	3567581	T	G	18	3567583	y	y	splicing	DLGAP1(NM_004746:exon10:c.1966-2A>C;NM_001242766:exon8:c.1090-2A>C;NM_001242764:exon7:c.1084-2A>C;NM_001242763:exon8:c.1132-2A>C;NM_001242762:exon7:c.1018-2A>C;NM_001003809:exon7:c.1060-2A>C;NM_001242765:exon7:c.1060-2A>C;NM_001242761:exon10:c.1966-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon10:c.1966-2A>C;ENST00000400150:exon8:c.1114-2A>C;ENST00000400155:exon7:c.1084-2A>C;ENST00000400149:exon8:c.1036-2A>C;ENST00000400147:exon7:c.1060-2A>C;ENST00000584874:exon7:c.1966-2A>C;ENST00000534970:exon7:c.1018-2A>C;ENST00000539435:exon8:c.1090-2A>C;ENST00000581699:exon7:c.1084-2A>C;ENST00000400145:exon7:c.1060-2A>C;ENST00000515196:exon9:c.1966-2A>C;ENST00000581527:exon10:c.1966-2A>C)	.	.	0.999988247793601	0.93
18	3567582	G	A	18	3567584	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00384042465444209	0.04
18	3567582	G	C	18	3567584	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999775554995614	0.922
18	3567582	G	T	18	3567584	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.980753716819336	0.664
18	3567583	G	A	18	3567585	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.53636044951478E-4	0.0
18	3567583	G	C	18	3567585	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.40306998811063E-5	0.018
18	3567583	G	T	18	3567585	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.40306998811063E-5	0.0
18	3567584	A	C	18	3567586	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.782183233831071	0.584
18	3567584	A	G	18	3567586	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.03752660797937E-4	0.014
18	3567584	A	T	18	3567586	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.78117857280094	0.588
18	3567585	G	A	18	3567587	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00270741079043387	0.048
18	3567585	G	C	18	3567587	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.821871040019869	0.564
18	3567585	G	T	18	3567587	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.807367034793167	0.544
18	3567586	A	C	18	3567588	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.224637442688647	0.372
18	3567586	A	G	18	3567588	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.85235459491927E-4	0.0
18	3567586	A	T	18	3567588	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.154823923571792	0.508
18	3567587	A	C	18	3567589	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.108290276758215	0.354
18	3567587	A	G	18	3567589	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00201881412414829	0.028
18	3567587	A	T	18	3567589	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.560198608780992	0.504
18	3567588	A	C	18	3567590	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999763681104836	0.946
18	3567588	A	G	18	3567590	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00155373195125388	0.074
18	3567588	A	T	18	3567590	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.740100498040655	0.586
18	3567589	T	A	18	3567591	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.25536680095733E-4	0.31
18	3567589	T	C	18	3567591	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.54452812195731E-5	0.174
18	3567589	T	G	18	3567591	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.11412707187176E-5	0.22
18	3567590	C	A	18	3567592	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.76435656133414E-4	0.188
18	3567590	C	G	18	3567592	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.51718346139849E-4	0.19
18	3567590	C	T	18	3567592	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.8477207099592E-4	0.094
18	3567591	A	C	18	3567593	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999848529415741	0.908
18	3567591	A	G	18	3567593	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.46146315654554E-5	0.07
18	3567591	A	T	18	3567593	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999919796908957	0.918
18	3581865	G	A	18	3581867	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.15018326709578E-5	0.02
18	3581865	G	C	18	3581867	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.15018326709578E-5	0.02
18	3581865	G	T	18	3581867	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.15018326709578E-5	0.02
18	3581866	C	A	18	3581868	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.06492065691335E-5	0.036
18	3581866	C	G	18	3581868	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.16136467092454E-5	0.006
18	3581866	C	T	18	3581868	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.66144303694541E-5	0.002
18	3581867	T	A	18	3581869	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.61145257565612E-5	0.02
18	3581867	T	C	18	3581869	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.20814718973618E-5	0.028
18	3581867	T	G	18	3581869	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.69360910878746E-5	0.038
18	3581868	G	A	18	3581870	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.8076580599688E-5	0.018
18	3581868	G	C	18	3581870	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.36899138304597E-5	0.014
18	3581868	G	T	18	3581870	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.16287679983162E-5	0.006
18	3581869	T	A	18	3581871	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.386929764001923	0.506
18	3581869	T	C	18	3581871	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.577100805125672	0.556
18	3581869	T	G	18	3581871	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.19158196277182	0.368
18	3581870	T	A	18	3581872	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999850467917773	0.924
18	3581870	T	C	18	3581872	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.979834152369135	0.748
18	3581870	T	G	18	3581872	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999384404716743	0.954
18	3581871	A	C	18	3581873	y	y	splicing	DLGAP1(NM_004746:exon9:c.1965+2T>G;NM_001242766:exon7:c.1089+2T>G;NM_001242764:exon6:c.1083+2T>G;NM_001242763:exon7:c.1131+2T>G;NM_001242762:exon6:c.1017+2T>G;NM_001003809:exon6:c.1059+2T>G;NM_001242765:exon6:c.1059+2T>G;NM_001242761:exon9:c.1965+2T>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1965+2T>G;ENST00000400150:exon7:c.1113+2T>G;ENST00000400155:exon6:c.1083+2T>G;ENST00000400149:exon7:c.1035+2T>G;ENST00000400147:exon6:c.1059+2T>G;ENST00000584874:exon6:c.1965+2T>G;ENST00000534970:exon6:c.1017+2T>G;ENST00000539435:exon7:c.1089+2T>G;ENST00000581699:exon6:c.1083+2T>G;ENST00000400145:exon6:c.1059+2T>G;ENST00000515196:exon8:c.1965+2T>G;ENST00000581527:exon9:c.1965+2T>G)	.	.	0.999989917668626	0.924
18	3581871	A	G	18	3581873	y	y	splicing	DLGAP1(NM_004746:exon9:c.1965+2T>C;NM_001242766:exon7:c.1089+2T>C;NM_001242764:exon6:c.1083+2T>C;NM_001242763:exon7:c.1131+2T>C;NM_001242762:exon6:c.1017+2T>C;NM_001003809:exon6:c.1059+2T>C;NM_001242765:exon6:c.1059+2T>C;NM_001242761:exon9:c.1965+2T>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1965+2T>C;ENST00000400150:exon7:c.1113+2T>C;ENST00000400155:exon6:c.1083+2T>C;ENST00000400149:exon7:c.1035+2T>C;ENST00000400147:exon6:c.1059+2T>C;ENST00000584874:exon6:c.1965+2T>C;ENST00000534970:exon6:c.1017+2T>C;ENST00000539435:exon7:c.1089+2T>C;ENST00000581699:exon6:c.1083+2T>C;ENST00000400145:exon6:c.1059+2T>C;ENST00000515196:exon8:c.1965+2T>C;ENST00000581527:exon9:c.1965+2T>C)	.	.	0.986528855787127	0.614
18	3581871	A	T	18	3581873	y	y	splicing	DLGAP1(NM_004746:exon9:c.1965+2T>A;NM_001242766:exon7:c.1089+2T>A;NM_001242764:exon6:c.1083+2T>A;NM_001242763:exon7:c.1131+2T>A;NM_001242762:exon6:c.1017+2T>A;NM_001003809:exon6:c.1059+2T>A;NM_001242765:exon6:c.1059+2T>A;NM_001242761:exon9:c.1965+2T>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1965+2T>A;ENST00000400150:exon7:c.1113+2T>A;ENST00000400155:exon6:c.1083+2T>A;ENST00000400149:exon7:c.1035+2T>A;ENST00000400147:exon6:c.1059+2T>A;ENST00000584874:exon6:c.1965+2T>A;ENST00000534970:exon6:c.1017+2T>A;ENST00000539435:exon7:c.1089+2T>A;ENST00000581699:exon6:c.1083+2T>A;ENST00000400145:exon6:c.1059+2T>A;ENST00000515196:exon8:c.1965+2T>A;ENST00000581527:exon9:c.1965+2T>A)	.	.	0.999989917668626	0.924
18	3581872	C	A	18	3581874	y	y	splicing	DLGAP1(NM_004746:exon9:c.1965+1G>T;NM_001242766:exon7:c.1089+1G>T;NM_001242764:exon6:c.1083+1G>T;NM_001242763:exon7:c.1131+1G>T;NM_001242762:exon6:c.1017+1G>T;NM_001003809:exon6:c.1059+1G>T;NM_001242765:exon6:c.1059+1G>T;NM_001242761:exon9:c.1965+1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1965+1G>T;ENST00000400150:exon7:c.1113+1G>T;ENST00000400155:exon6:c.1083+1G>T;ENST00000400149:exon7:c.1035+1G>T;ENST00000400147:exon6:c.1059+1G>T;ENST00000584874:exon6:c.1965+1G>T;ENST00000534970:exon6:c.1017+1G>T;ENST00000539435:exon7:c.1089+1G>T;ENST00000581699:exon6:c.1083+1G>T;ENST00000400145:exon6:c.1059+1G>T;ENST00000515196:exon8:c.1965+1G>T;ENST00000581527:exon9:c.1965+1G>T)	.	.	0.999986675681007	0.932
18	3581872	C	G	18	3581874	y	y	splicing	DLGAP1(NM_004746:exon9:c.1965+1G>C;NM_001242766:exon7:c.1089+1G>C;NM_001242764:exon6:c.1083+1G>C;NM_001242763:exon7:c.1131+1G>C;NM_001242762:exon6:c.1017+1G>C;NM_001003809:exon6:c.1059+1G>C;NM_001242765:exon6:c.1059+1G>C;NM_001242761:exon9:c.1965+1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1965+1G>C;ENST00000400150:exon7:c.1113+1G>C;ENST00000400155:exon6:c.1083+1G>C;ENST00000400149:exon7:c.1035+1G>C;ENST00000400147:exon6:c.1059+1G>C;ENST00000584874:exon6:c.1965+1G>C;ENST00000534970:exon6:c.1017+1G>C;ENST00000539435:exon7:c.1089+1G>C;ENST00000581699:exon6:c.1083+1G>C;ENST00000400145:exon6:c.1059+1G>C;ENST00000515196:exon8:c.1965+1G>C;ENST00000581527:exon9:c.1965+1G>C)	.	.	0.999986675681007	0.932
18	3581872	C	T	18	3581874	y	y	splicing	DLGAP1(NM_004746:exon9:c.1965+1G>A;NM_001242766:exon7:c.1089+1G>A;NM_001242764:exon6:c.1083+1G>A;NM_001242763:exon7:c.1131+1G>A;NM_001242762:exon6:c.1017+1G>A;NM_001003809:exon6:c.1059+1G>A;NM_001242765:exon6:c.1059+1G>A;NM_001242761:exon9:c.1965+1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1965+1G>A;ENST00000400150:exon7:c.1113+1G>A;ENST00000400155:exon6:c.1083+1G>A;ENST00000400149:exon7:c.1035+1G>A;ENST00000400147:exon6:c.1059+1G>A;ENST00000584874:exon6:c.1965+1G>A;ENST00000534970:exon6:c.1017+1G>A;ENST00000539435:exon7:c.1089+1G>A;ENST00000581699:exon6:c.1083+1G>A;ENST00000400145:exon6:c.1059+1G>A;ENST00000515196:exon8:c.1965+1G>A;ENST00000581527:exon9:c.1965+1G>A)	.	.	0.999986675681007	0.932
18	3581873	C	A	18	3581875	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.G1965T:p.Q655H;DLGAP1:NM_001242766:exon6:c.G1089T:p.Q363H;DLGAP1:NM_001003809:exon5:c.G1059T:p.Q353H;DLGAP1:NM_001242762:exon5:c.G1017T:p.Q339H;DLGAP1:NM_001242763:exon6:c.G1131T:p.Q377H;DLGAP1:NM_001242765:exon5:c.G1059T:p.Q353H;DLGAP1:NM_004746:exon8:c.G1965T:p.Q655H;DLGAP1:NM_001242764:exon5:c.G1083T:p.Q361H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.G1089T:p.Q363H;ENSG00000170579:ENST00000515196:exon7:c.G1965T:p.Q655H;ENSG00000170579:ENST00000581699:exon5:c.G1083T:p.Q361H;ENSG00000170579:ENST00000400145:exon5:c.G1059T:p.Q353H;ENSG00000170579:ENST00000400147:exon5:c.G1059T:p.Q353H;ENSG00000170579:ENST00000584874:exon5:c.G1965T:p.Q655H;ENSG00000170579:ENST00000315677:exon8:c.G1965T:p.Q655H;ENSG00000170579:ENST00000400149:exon6:c.G1035T:p.Q345H;ENSG00000170579:ENST00000400155:exon5:c.G1083T:p.Q361H;ENSG00000170579:ENST00000581527:exon8:c.G1965T:p.Q655H;ENSG00000170579:ENST00000400150:exon6:c.G1113T:p.Q371H;ENSG00000170579:ENST00000534970:exon5:c.G1017T:p.Q339H;	0.999983026775107	0.996
18	3581873	C	G	18	3581875	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.G1965C:p.Q655H;DLGAP1:NM_001242766:exon6:c.G1089C:p.Q363H;DLGAP1:NM_001003809:exon5:c.G1059C:p.Q353H;DLGAP1:NM_001242762:exon5:c.G1017C:p.Q339H;DLGAP1:NM_001242763:exon6:c.G1131C:p.Q377H;DLGAP1:NM_001242765:exon5:c.G1059C:p.Q353H;DLGAP1:NM_004746:exon8:c.G1965C:p.Q655H;DLGAP1:NM_001242764:exon5:c.G1083C:p.Q361H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.G1089C:p.Q363H;ENSG00000170579:ENST00000515196:exon7:c.G1965C:p.Q655H;ENSG00000170579:ENST00000581699:exon5:c.G1083C:p.Q361H;ENSG00000170579:ENST00000400145:exon5:c.G1059C:p.Q353H;ENSG00000170579:ENST00000400147:exon5:c.G1059C:p.Q353H;ENSG00000170579:ENST00000584874:exon5:c.G1965C:p.Q655H;ENSG00000170579:ENST00000315677:exon8:c.G1965C:p.Q655H;ENSG00000170579:ENST00000400149:exon6:c.G1035C:p.Q345H;ENSG00000170579:ENST00000400155:exon5:c.G1083C:p.Q361H;ENSG00000170579:ENST00000581527:exon8:c.G1965C:p.Q655H;ENSG00000170579:ENST00000400150:exon6:c.G1113C:p.Q371H;ENSG00000170579:ENST00000534970:exon5:c.G1017C:p.Q339H;	0.999995566069353	1.0
18	3581873	C	T	18	3581875	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon8:c.G1965A:p.Q655Q;DLGAP1:NM_001242766:exon6:c.G1089A:p.Q363Q;DLGAP1:NM_001003809:exon5:c.G1059A:p.Q353Q;DLGAP1:NM_001242762:exon5:c.G1017A:p.Q339Q;DLGAP1:NM_001242763:exon6:c.G1131A:p.Q377Q;DLGAP1:NM_001242765:exon5:c.G1059A:p.Q353Q;DLGAP1:NM_004746:exon8:c.G1965A:p.Q655Q;DLGAP1:NM_001242764:exon5:c.G1083A:p.Q361Q;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.G1089A:p.Q363Q;ENSG00000170579:ENST00000515196:exon7:c.G1965A:p.Q655Q;ENSG00000170579:ENST00000581699:exon5:c.G1083A:p.Q361Q;ENSG00000170579:ENST00000400145:exon5:c.G1059A:p.Q353Q;ENSG00000170579:ENST00000400147:exon5:c.G1059A:p.Q353Q;ENSG00000170579:ENST00000584874:exon5:c.G1965A:p.Q655Q;ENSG00000170579:ENST00000315677:exon8:c.G1965A:p.Q655Q;ENSG00000170579:ENST00000400149:exon6:c.G1035A:p.Q345Q;ENSG00000170579:ENST00000400155:exon5:c.G1083A:p.Q361Q;ENSG00000170579:ENST00000581527:exon8:c.G1965A:p.Q655Q;ENSG00000170579:ENST00000400150:exon6:c.G1113A:p.Q371Q;ENSG00000170579:ENST00000534970:exon5:c.G1017A:p.Q339Q;	0.999942411341303	0.994
18	3581874	T	A	18	3581876	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.A1964T:p.Q655L;DLGAP1:NM_001242766:exon6:c.A1088T:p.Q363L;DLGAP1:NM_001003809:exon5:c.A1058T:p.Q353L;DLGAP1:NM_001242762:exon5:c.A1016T:p.Q339L;DLGAP1:NM_001242763:exon6:c.A1130T:p.Q377L;DLGAP1:NM_001242765:exon5:c.A1058T:p.Q353L;DLGAP1:NM_004746:exon8:c.A1964T:p.Q655L;DLGAP1:NM_001242764:exon5:c.A1082T:p.Q361L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.A1088T:p.Q363L;ENSG00000170579:ENST00000515196:exon7:c.A1964T:p.Q655L;ENSG00000170579:ENST00000581699:exon5:c.A1082T:p.Q361L;ENSG00000170579:ENST00000400145:exon5:c.A1058T:p.Q353L;ENSG00000170579:ENST00000400147:exon5:c.A1058T:p.Q353L;ENSG00000170579:ENST00000584874:exon5:c.A1964T:p.Q655L;ENSG00000170579:ENST00000315677:exon8:c.A1964T:p.Q655L;ENSG00000170579:ENST00000400149:exon6:c.A1034T:p.Q345L;ENSG00000170579:ENST00000400155:exon5:c.A1082T:p.Q361L;ENSG00000170579:ENST00000581527:exon8:c.A1964T:p.Q655L;ENSG00000170579:ENST00000400150:exon6:c.A1112T:p.Q371L;ENSG00000170579:ENST00000534970:exon5:c.A1016T:p.Q339L;	0.999614988601088	0.994
18	3581874	T	C	18	3581876	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.A1964G:p.Q655R;DLGAP1:NM_001242766:exon6:c.A1088G:p.Q363R;DLGAP1:NM_001003809:exon5:c.A1058G:p.Q353R;DLGAP1:NM_001242762:exon5:c.A1016G:p.Q339R;DLGAP1:NM_001242763:exon6:c.A1130G:p.Q377R;DLGAP1:NM_001242765:exon5:c.A1058G:p.Q353R;DLGAP1:NM_004746:exon8:c.A1964G:p.Q655R;DLGAP1:NM_001242764:exon5:c.A1082G:p.Q361R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.A1088G:p.Q363R;ENSG00000170579:ENST00000515196:exon7:c.A1964G:p.Q655R;ENSG00000170579:ENST00000581699:exon5:c.A1082G:p.Q361R;ENSG00000170579:ENST00000400145:exon5:c.A1058G:p.Q353R;ENSG00000170579:ENST00000400147:exon5:c.A1058G:p.Q353R;ENSG00000170579:ENST00000584874:exon5:c.A1964G:p.Q655R;ENSG00000170579:ENST00000315677:exon8:c.A1964G:p.Q655R;ENSG00000170579:ENST00000400149:exon6:c.A1034G:p.Q345R;ENSG00000170579:ENST00000400155:exon5:c.A1082G:p.Q361R;ENSG00000170579:ENST00000581527:exon8:c.A1964G:p.Q655R;ENSG00000170579:ENST00000400150:exon6:c.A1112G:p.Q371R;ENSG00000170579:ENST00000534970:exon5:c.A1016G:p.Q339R;	0.999616010528826	0.984
18	3581874	T	G	18	3581876	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.A1964C:p.Q655P;DLGAP1:NM_001242766:exon6:c.A1088C:p.Q363P;DLGAP1:NM_001003809:exon5:c.A1058C:p.Q353P;DLGAP1:NM_001242762:exon5:c.A1016C:p.Q339P;DLGAP1:NM_001242763:exon6:c.A1130C:p.Q377P;DLGAP1:NM_001242765:exon5:c.A1058C:p.Q353P;DLGAP1:NM_004746:exon8:c.A1964C:p.Q655P;DLGAP1:NM_001242764:exon5:c.A1082C:p.Q361P;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.A1088C:p.Q363P;ENSG00000170579:ENST00000515196:exon7:c.A1964C:p.Q655P;ENSG00000170579:ENST00000581699:exon5:c.A1082C:p.Q361P;ENSG00000170579:ENST00000400145:exon5:c.A1058C:p.Q353P;ENSG00000170579:ENST00000400147:exon5:c.A1058C:p.Q353P;ENSG00000170579:ENST00000584874:exon5:c.A1964C:p.Q655P;ENSG00000170579:ENST00000315677:exon8:c.A1964C:p.Q655P;ENSG00000170579:ENST00000400149:exon6:c.A1034C:p.Q345P;ENSG00000170579:ENST00000400155:exon5:c.A1082C:p.Q361P;ENSG00000170579:ENST00000581527:exon8:c.A1964C:p.Q655P;ENSG00000170579:ENST00000400150:exon6:c.A1112C:p.Q371P;ENSG00000170579:ENST00000534970:exon5:c.A1016C:p.Q339P;	0.997157647403402	0.894
18	3581875	G	A	18	3581877	y	y	exonic	DLGAP1	stopgain SNV	DLGAP1:NM_001242761:exon8:c.C1963T:p.Q655X;DLGAP1:NM_001242766:exon6:c.C1087T:p.Q363X;DLGAP1:NM_001003809:exon5:c.C1057T:p.Q353X;DLGAP1:NM_001242762:exon5:c.C1015T:p.Q339X;DLGAP1:NM_001242763:exon6:c.C1129T:p.Q377X;DLGAP1:NM_001242765:exon5:c.C1057T:p.Q353X;DLGAP1:NM_004746:exon8:c.C1963T:p.Q655X;DLGAP1:NM_001242764:exon5:c.C1081T:p.Q361X;	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000539435:exon6:c.C1087T:p.Q363X;ENSG00000170579:ENST00000515196:exon7:c.C1963T:p.Q655X;ENSG00000170579:ENST00000581699:exon5:c.C1081T:p.Q361X;ENSG00000170579:ENST00000400145:exon5:c.C1057T:p.Q353X;ENSG00000170579:ENST00000400147:exon5:c.C1057T:p.Q353X;ENSG00000170579:ENST00000584874:exon5:c.C1963T:p.Q655X;ENSG00000170579:ENST00000315677:exon8:c.C1963T:p.Q655X;ENSG00000170579:ENST00000400149:exon6:c.C1033T:p.Q345X;ENSG00000170579:ENST00000400155:exon5:c.C1081T:p.Q361X;ENSG00000170579:ENST00000581527:exon8:c.C1963T:p.Q655X;ENSG00000170579:ENST00000400150:exon6:c.C1111T:p.Q371X;ENSG00000170579:ENST00000534970:exon5:c.C1015T:p.Q339X;	0.999701193704223	0.984
18	3581875	G	C	18	3581877	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.C1963G:p.Q655E;DLGAP1:NM_001242766:exon6:c.C1087G:p.Q363E;DLGAP1:NM_001003809:exon5:c.C1057G:p.Q353E;DLGAP1:NM_001242762:exon5:c.C1015G:p.Q339E;DLGAP1:NM_001242763:exon6:c.C1129G:p.Q377E;DLGAP1:NM_001242765:exon5:c.C1057G:p.Q353E;DLGAP1:NM_004746:exon8:c.C1963G:p.Q655E;DLGAP1:NM_001242764:exon5:c.C1081G:p.Q361E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.C1087G:p.Q363E;ENSG00000170579:ENST00000515196:exon7:c.C1963G:p.Q655E;ENSG00000170579:ENST00000581699:exon5:c.C1081G:p.Q361E;ENSG00000170579:ENST00000400145:exon5:c.C1057G:p.Q353E;ENSG00000170579:ENST00000400147:exon5:c.C1057G:p.Q353E;ENSG00000170579:ENST00000584874:exon5:c.C1963G:p.Q655E;ENSG00000170579:ENST00000315677:exon8:c.C1963G:p.Q655E;ENSG00000170579:ENST00000400149:exon6:c.C1033G:p.Q345E;ENSG00000170579:ENST00000400155:exon5:c.C1081G:p.Q361E;ENSG00000170579:ENST00000581527:exon8:c.C1963G:p.Q655E;ENSG00000170579:ENST00000400150:exon6:c.C1111G:p.Q371E;ENSG00000170579:ENST00000534970:exon5:c.C1015G:p.Q339E;	0.896557870395235	0.656
18	3581875	G	T	18	3581877	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.C1963A:p.Q655K;DLGAP1:NM_001242766:exon6:c.C1087A:p.Q363K;DLGAP1:NM_001003809:exon5:c.C1057A:p.Q353K;DLGAP1:NM_001242762:exon5:c.C1015A:p.Q339K;DLGAP1:NM_001242763:exon6:c.C1129A:p.Q377K;DLGAP1:NM_001242765:exon5:c.C1057A:p.Q353K;DLGAP1:NM_004746:exon8:c.C1963A:p.Q655K;DLGAP1:NM_001242764:exon5:c.C1081A:p.Q361K;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.C1087A:p.Q363K;ENSG00000170579:ENST00000515196:exon7:c.C1963A:p.Q655K;ENSG00000170579:ENST00000581699:exon5:c.C1081A:p.Q361K;ENSG00000170579:ENST00000400145:exon5:c.C1057A:p.Q353K;ENSG00000170579:ENST00000400147:exon5:c.C1057A:p.Q353K;ENSG00000170579:ENST00000584874:exon5:c.C1963A:p.Q655K;ENSG00000170579:ENST00000315677:exon8:c.C1963A:p.Q655K;ENSG00000170579:ENST00000400149:exon6:c.C1033A:p.Q345K;ENSG00000170579:ENST00000400155:exon5:c.C1081A:p.Q361K;ENSG00000170579:ENST00000581527:exon8:c.C1963A:p.Q655K;ENSG00000170579:ENST00000400150:exon6:c.C1111A:p.Q371K;ENSG00000170579:ENST00000534970:exon5:c.C1015A:p.Q339K;	0.899620071745551	0.766
18	3582245	C	A	18	3582247	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon8:c.G1593T:p.V531V;DLGAP1:NM_001242766:exon6:c.G717T:p.V239V;DLGAP1:NM_001003809:exon5:c.G687T:p.V229V;DLGAP1:NM_001242763:exon6:c.G759T:p.V253V;DLGAP1:NM_001242765:exon5:c.G687T:p.V229V;DLGAP1:NM_004746:exon8:c.G1593T:p.V531V;DLGAP1:NM_001242764:exon5:c.G711T:p.V237V;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.G717T:p.V239V;ENSG00000170579:ENST00000515196:exon7:c.G1593T:p.V531V;ENSG00000170579:ENST00000581699:exon5:c.G711T:p.V237V;ENSG00000170579:ENST00000400145:exon5:c.G687T:p.V229V;ENSG00000170579:ENST00000400147:exon5:c.G687T:p.V229V;ENSG00000170579:ENST00000584874:exon5:c.G1593T:p.V531V;ENSG00000170579:ENST00000315677:exon8:c.G1593T:p.V531V;ENSG00000170579:ENST00000400155:exon5:c.G711T:p.V237V;ENSG00000170579:ENST00000581527:exon8:c.G1593T:p.V531V;ENSG00000170579:ENST00000400150:exon6:c.G741T:p.V247V;	0.00930294204426909	0.04
18	3582245	C	G	18	3582247	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon8:c.G1593C:p.V531V;DLGAP1:NM_001242766:exon6:c.G717C:p.V239V;DLGAP1:NM_001003809:exon5:c.G687C:p.V229V;DLGAP1:NM_001242763:exon6:c.G759C:p.V253V;DLGAP1:NM_001242765:exon5:c.G687C:p.V229V;DLGAP1:NM_004746:exon8:c.G1593C:p.V531V;DLGAP1:NM_001242764:exon5:c.G711C:p.V237V;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.G717C:p.V239V;ENSG00000170579:ENST00000515196:exon7:c.G1593C:p.V531V;ENSG00000170579:ENST00000581699:exon5:c.G711C:p.V237V;ENSG00000170579:ENST00000400145:exon5:c.G687C:p.V229V;ENSG00000170579:ENST00000400147:exon5:c.G687C:p.V229V;ENSG00000170579:ENST00000584874:exon5:c.G1593C:p.V531V;ENSG00000170579:ENST00000315677:exon8:c.G1593C:p.V531V;ENSG00000170579:ENST00000400155:exon5:c.G711C:p.V237V;ENSG00000170579:ENST00000581527:exon8:c.G1593C:p.V531V;ENSG00000170579:ENST00000400150:exon6:c.G741C:p.V247V;	0.0164626351166014	0.136
18	3582245	C	T	18	3582247	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon8:c.G1593A:p.V531V;DLGAP1:NM_001242766:exon6:c.G717A:p.V239V;DLGAP1:NM_001003809:exon5:c.G687A:p.V229V;DLGAP1:NM_001242763:exon6:c.G759A:p.V253V;DLGAP1:NM_001242765:exon5:c.G687A:p.V229V;DLGAP1:NM_004746:exon8:c.G1593A:p.V531V;DLGAP1:NM_001242764:exon5:c.G711A:p.V237V;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.G717A:p.V239V;ENSG00000170579:ENST00000515196:exon7:c.G1593A:p.V531V;ENSG00000170579:ENST00000581699:exon5:c.G711A:p.V237V;ENSG00000170579:ENST00000400145:exon5:c.G687A:p.V229V;ENSG00000170579:ENST00000400147:exon5:c.G687A:p.V229V;ENSG00000170579:ENST00000584874:exon5:c.G1593A:p.V531V;ENSG00000170579:ENST00000315677:exon8:c.G1593A:p.V531V;ENSG00000170579:ENST00000400155:exon5:c.G711A:p.V237V;ENSG00000170579:ENST00000581527:exon8:c.G1593A:p.V531V;ENSG00000170579:ENST00000400150:exon6:c.G741A:p.V247V;	0.0601967666299541	0.208
18	3582246	A	C	18	3582248	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.T1592G:p.V531G;DLGAP1:NM_001242766:exon6:c.T716G:p.V239G;DLGAP1:NM_001003809:exon5:c.T686G:p.V229G;DLGAP1:NM_001242763:exon6:c.T758G:p.V253G;DLGAP1:NM_001242765:exon5:c.T686G:p.V229G;DLGAP1:NM_004746:exon8:c.T1592G:p.V531G;DLGAP1:NM_001242764:exon5:c.T710G:p.V237G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.T716G:p.V239G;ENSG00000170579:ENST00000515196:exon7:c.T1592G:p.V531G;ENSG00000170579:ENST00000581699:exon5:c.T710G:p.V237G;ENSG00000170579:ENST00000400145:exon5:c.T686G:p.V229G;ENSG00000170579:ENST00000400147:exon5:c.T686G:p.V229G;ENSG00000170579:ENST00000584874:exon5:c.T1592G:p.V531G;ENSG00000170579:ENST00000315677:exon8:c.T1592G:p.V531G;ENSG00000170579:ENST00000400155:exon5:c.T710G:p.V237G;ENSG00000170579:ENST00000581527:exon8:c.T1592G:p.V531G;ENSG00000170579:ENST00000400150:exon6:c.T740G:p.V247G;	0.00311370823631966	0.116
18	3582246	A	G	18	3582248	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.T1592C:p.V531A;DLGAP1:NM_001242766:exon6:c.T716C:p.V239A;DLGAP1:NM_001003809:exon5:c.T686C:p.V229A;DLGAP1:NM_001242763:exon6:c.T758C:p.V253A;DLGAP1:NM_001242765:exon5:c.T686C:p.V229A;DLGAP1:NM_004746:exon8:c.T1592C:p.V531A;DLGAP1:NM_001242764:exon5:c.T710C:p.V237A;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.T716C:p.V239A;ENSG00000170579:ENST00000515196:exon7:c.T1592C:p.V531A;ENSG00000170579:ENST00000581699:exon5:c.T710C:p.V237A;ENSG00000170579:ENST00000400145:exon5:c.T686C:p.V229A;ENSG00000170579:ENST00000400147:exon5:c.T686C:p.V229A;ENSG00000170579:ENST00000584874:exon5:c.T1592C:p.V531A;ENSG00000170579:ENST00000315677:exon8:c.T1592C:p.V531A;ENSG00000170579:ENST00000400155:exon5:c.T710C:p.V237A;ENSG00000170579:ENST00000581527:exon8:c.T1592C:p.V531A;ENSG00000170579:ENST00000400150:exon6:c.T740C:p.V247A;	0.00509679236571189	0.038
18	3582246	A	T	18	3582248	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon8:c.T1592A:p.V531E;DLGAP1:NM_001242766:exon6:c.T716A:p.V239E;DLGAP1:NM_001003809:exon5:c.T686A:p.V229E;DLGAP1:NM_001242763:exon6:c.T758A:p.V253E;DLGAP1:NM_001242765:exon5:c.T686A:p.V229E;DLGAP1:NM_004746:exon8:c.T1592A:p.V531E;DLGAP1:NM_001242764:exon5:c.T710A:p.V237E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon6:c.T716A:p.V239E;ENSG00000170579:ENST00000515196:exon7:c.T1592A:p.V531E;ENSG00000170579:ENST00000581699:exon5:c.T710A:p.V237E;ENSG00000170579:ENST00000400145:exon5:c.T686A:p.V229E;ENSG00000170579:ENST00000400147:exon5:c.T686A:p.V229E;ENSG00000170579:ENST00000584874:exon5:c.T1592A:p.V531E;ENSG00000170579:ENST00000315677:exon8:c.T1592A:p.V531E;ENSG00000170579:ENST00000400155:exon5:c.T710A:p.V237E;ENSG00000170579:ENST00000581527:exon8:c.T1592A:p.V531E;ENSG00000170579:ENST00000400150:exon6:c.T740A:p.V247E;	0.0532722304749443	0.386
18	3582247	C	A	18	3582249	y	y	splicing	DLGAP1(NM_004746:exon9:c.1592-1G>T;NM_001242766:exon7:c.716-1G>T;NM_001242764:exon6:c.710-1G>T;NM_001242763:exon7:c.758-1G>T;NM_001003809:exon6:c.686-1G>T;NM_001242765:exon6:c.686-1G>T;NM_001242761:exon9:c.1592-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1592-1G>T;ENST00000400150:exon7:c.740-1G>T;ENST00000400155:exon6:c.710-1G>T;ENST00000400147:exon6:c.686-1G>T;ENST00000584874:exon6:c.1592-1G>T;ENST00000539435:exon7:c.716-1G>T;ENST00000581699:exon6:c.710-1G>T;ENST00000400145:exon6:c.686-1G>T;ENST00000515196:exon8:c.1592-1G>T;ENST00000581527:exon9:c.1592-1G>T)	.	.	0.999989528922238	0.936
18	3582247	C	G	18	3582249	y	y	splicing	DLGAP1(NM_004746:exon9:c.1592-1G>C;NM_001242766:exon7:c.716-1G>C;NM_001242764:exon6:c.710-1G>C;NM_001242763:exon7:c.758-1G>C;NM_001003809:exon6:c.686-1G>C;NM_001242765:exon6:c.686-1G>C;NM_001242761:exon9:c.1592-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1592-1G>C;ENST00000400150:exon7:c.740-1G>C;ENST00000400155:exon6:c.710-1G>C;ENST00000400147:exon6:c.686-1G>C;ENST00000584874:exon6:c.1592-1G>C;ENST00000539435:exon7:c.716-1G>C;ENST00000581699:exon6:c.710-1G>C;ENST00000400145:exon6:c.686-1G>C;ENST00000515196:exon8:c.1592-1G>C;ENST00000581527:exon9:c.1592-1G>C)	.	.	0.999989528922238	0.936
18	3582247	C	T	18	3582249	y	y	splicing	DLGAP1(NM_004746:exon9:c.1592-1G>A;NM_001242766:exon7:c.716-1G>A;NM_001242764:exon6:c.710-1G>A;NM_001242763:exon7:c.758-1G>A;NM_001003809:exon6:c.686-1G>A;NM_001242765:exon6:c.686-1G>A;NM_001242761:exon9:c.1592-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1592-1G>A;ENST00000400150:exon7:c.740-1G>A;ENST00000400155:exon6:c.710-1G>A;ENST00000400147:exon6:c.686-1G>A;ENST00000584874:exon6:c.1592-1G>A;ENST00000539435:exon7:c.716-1G>A;ENST00000581699:exon6:c.710-1G>A;ENST00000400145:exon6:c.686-1G>A;ENST00000515196:exon8:c.1592-1G>A;ENST00000581527:exon9:c.1592-1G>A)	.	.	0.999989528922238	0.936
18	3582248	T	A	18	3582250	y	y	splicing	DLGAP1(NM_004746:exon9:c.1592-2A>T;NM_001242766:exon7:c.716-2A>T;NM_001242764:exon6:c.710-2A>T;NM_001242763:exon7:c.758-2A>T;NM_001003809:exon6:c.686-2A>T;NM_001242765:exon6:c.686-2A>T;NM_001242761:exon9:c.1592-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1592-2A>T;ENST00000400150:exon7:c.740-2A>T;ENST00000400155:exon6:c.710-2A>T;ENST00000400147:exon6:c.686-2A>T;ENST00000584874:exon6:c.1592-2A>T;ENST00000539435:exon7:c.716-2A>T;ENST00000581699:exon6:c.710-2A>T;ENST00000400145:exon6:c.686-2A>T;ENST00000515196:exon8:c.1592-2A>T;ENST00000581527:exon9:c.1592-2A>T)	.	.	0.999990764389106	0.934
18	3582248	T	C	18	3582250	y	y	splicing	DLGAP1(NM_004746:exon9:c.1592-2A>G;NM_001242766:exon7:c.716-2A>G;NM_001242764:exon6:c.710-2A>G;NM_001242763:exon7:c.758-2A>G;NM_001003809:exon6:c.686-2A>G;NM_001242765:exon6:c.686-2A>G;NM_001242761:exon9:c.1592-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1592-2A>G;ENST00000400150:exon7:c.740-2A>G;ENST00000400155:exon6:c.710-2A>G;ENST00000400147:exon6:c.686-2A>G;ENST00000584874:exon6:c.1592-2A>G;ENST00000539435:exon7:c.716-2A>G;ENST00000581699:exon6:c.710-2A>G;ENST00000400145:exon6:c.686-2A>G;ENST00000515196:exon8:c.1592-2A>G;ENST00000581527:exon9:c.1592-2A>G)	.	.	0.999990764389106	0.934
18	3582248	T	G	18	3582250	y	y	splicing	DLGAP1(NM_004746:exon9:c.1592-2A>C;NM_001242766:exon7:c.716-2A>C;NM_001242764:exon6:c.710-2A>C;NM_001242763:exon7:c.758-2A>C;NM_001003809:exon6:c.686-2A>C;NM_001242765:exon6:c.686-2A>C;NM_001242761:exon9:c.1592-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon9:c.1592-2A>C;ENST00000400150:exon7:c.740-2A>C;ENST00000400155:exon6:c.710-2A>C;ENST00000400147:exon6:c.686-2A>C;ENST00000584874:exon6:c.1592-2A>C;ENST00000539435:exon7:c.716-2A>C;ENST00000581699:exon6:c.710-2A>C;ENST00000400145:exon6:c.686-2A>C;ENST00000515196:exon8:c.1592-2A>C;ENST00000581527:exon9:c.1592-2A>C)	.	.	0.999990764389106	0.934
18	3582249	G	A	18	3582251	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.306115717365294	0.292
18	3582249	G	C	18	3582251	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999979923799265	0.994
18	3582249	G	T	18	3582251	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.998690578711053	0.912
18	3582250	G	A	18	3582252	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00150468472375428	0.022
18	3582250	G	C	18	3582252	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.6553002232071E-4	0.028
18	3582250	G	T	18	3582252	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00151600888660677	0.022
18	3582251	A	C	18	3582253	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.960718066862246	0.786
18	3582251	A	G	18	3582253	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.208329242479884	0.308
18	3582251	A	T	18	3582253	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.971207798578671	0.788
18	3582252	A	C	18	3582254	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.987732785029832	0.712
18	3582252	A	G	18	3582254	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00279420487670375	0.09
18	3582252	A	T	18	3582254	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.948441949940432	0.712
18	3582253	G	A	18	3582255	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.69673633295824E-4	0.05
18	3582253	G	C	18	3582255	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.261746643608398	0.34
18	3582253	G	T	18	3582255	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.101838025629045	0.368
18	3582254	A	C	18	3582256	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.234073468886539	0.446
18	3582254	A	G	18	3582256	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00242083239678639	0.088
18	3582254	A	T	18	3582256	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.62805581739808	0.494
18	3582255	C	A	18	3582257	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00177348956547823	0.022
18	3582255	C	G	18	3582257	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0066151799670951	0.044
18	3582255	C	T	18	3582257	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00748636409360413	0.082
18	3582256	A	C	18	3582258	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.26777339802549	0.478
18	3582256	A	G	18	3582258	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.02149809576975E-4	0.052
18	3582256	A	T	18	3582258	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.9999018761827	0.944
18	3582257	G	A	18	3582259	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.76014282798208E-4	0.016
18	3582257	G	C	18	3582259	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999608180154572	0.942
18	3582257	G	T	18	3582259	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0185964508260976	0.228
18	3582258	T	A	18	3582260	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.40170702642669E-5	0.0
18	3582258	T	C	18	3582260	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.00557074244401E-5	0.008
18	3582258	T	G	18	3582260	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.913499931727E-5	0.0
18	3656076	A	C	18	3656076	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.00138616423634105	0.002
18	3656076	A	G	18	3656076	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.00138616423634105	0.002
18	3656076	A	T	18	3656076	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.00132922575941333	0.002
18	3656077	A	C	18	3656077	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.00129414590274096	0.0
18	3656077	A	G	18	3656077	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.00129414590274096	0.0
18	3656077	A	T	18	3656077	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.00166377527685182	0.008
18	3656078	A	C	18	3656078	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.0134394837437666	0.032
18	3656078	A	G	18	3656078	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.0134394837437666	0.034
18	3656078	A	T	18	3656078	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.013999120100462	0.034
18	3656079	C	A	18	3656079	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.0131781744139421	0.036
18	3656079	C	G	18	3656079	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.00770886197811966	0.048
18	3656079	C	T	18	3656079	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.0114277946925287	0.036
18	3656080	A	C	18	3656080	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	5.54506920366841E-5	0.002
18	3656080	A	G	18	3656080	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	5.54506920366841E-5	0.002
18	3656080	A	T	18	3656080	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	5.54506920366841E-5	0.004
18	3656081	T	A	18	3656081	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.089240318656885	0.404
18	3656081	T	C	18	3656081	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.0345133776908699	0.16
18	3656081	T	G	18	3656081	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.0345133776908699	0.166
18	3656082	A	C	18	3656082	y	n	splicing	DLGAP1(NM_001242766:exon6:c.715+2T>G;NM_001242763:exon6:c.757+2T>G)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.686
18	3656082	A	G	18	3656082	y	n	splicing	DLGAP1(NM_001242766:exon6:c.715+2T>C;NM_001242763:exon6:c.757+2T>C)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.686
18	3656082	A	T	18	3656082	y	n	splicing	DLGAP1(NM_001242766:exon6:c.715+2T>A;NM_001242763:exon6:c.757+2T>A)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.698
18	3656083	C	A	18	3656083	y	n	splicing	DLGAP1(NM_001242766:exon6:c.715+1G>T;NM_001242763:exon6:c.757+1G>T)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.982204158216568	0.862
18	3656083	C	G	18	3656083	y	n	splicing	DLGAP1(NM_001242766:exon6:c.715+1G>C;NM_001242763:exon6:c.757+1G>C)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.982204158216568	0.866
18	3656083	C	T	18	3656083	y	n	splicing	DLGAP1(NM_001242766:exon6:c.715+1G>A;NM_001242763:exon6:c.757+1G>A)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.982204158216568	0.856
18	3656084	C	A	18	3656084	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.G715T:p.V239L;DLGAP1:NM_001242763:exon5:c.G757T:p.V253L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.G715T:p.V239L;ENSG00000170579:ENST00000400149:exon5:c.G745T:p.A249S;ENSG00000170579:ENST00000400150:exon5:c.G739T:p.V247L;	0.98397972150813	0.922
18	3656084	C	G	18	3656084	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.G715C:p.V239L;DLGAP1:NM_001242763:exon5:c.G757C:p.V253L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.G715C:p.V239L;ENSG00000170579:ENST00000400149:exon5:c.G745C:p.A249P;ENSG00000170579:ENST00000400150:exon5:c.G739C:p.V247L;	0.985622968658872	0.914
18	3656084	C	T	18	3656084	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.G715A:p.V239M;DLGAP1:NM_001242763:exon5:c.G757A:p.V253M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.G715A:p.V239M;ENSG00000170579:ENST00000400149:exon5:c.G745A:p.A249T;ENSG00000170579:ENST00000400150:exon5:c.G739A:p.V247M;	0.98397972150813	0.914
18	3656085	T	A	18	3656085	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.A714T:p.E238D;DLGAP1:NM_001242763:exon5:c.A756T:p.E252D;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.A714T:p.E238D;ENSG00000170579:ENST00000400149:exon5:c.A744T:p.E248D;ENSG00000170579:ENST00000400150:exon5:c.A738T:p.E246D;	0.815591718125187	0.686
18	3656085	T	C	18	3656085	y	n	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242766:exon5:c.A714G:p.E238E;DLGAP1:NM_001242763:exon5:c.A756G:p.E252E;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.A714G:p.E238E;ENSG00000170579:ENST00000400149:exon5:c.A744G:p.E248E;ENSG00000170579:ENST00000400150:exon5:c.A738G:p.E246E;	0.437967329770264	0.64
18	3656085	T	G	18	3656085	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.A714C:p.E238D;DLGAP1:NM_001242763:exon5:c.A756C:p.E252D;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.A714C:p.E238D;ENSG00000170579:ENST00000400149:exon5:c.A744C:p.E248D;ENSG00000170579:ENST00000400150:exon5:c.A738C:p.E246D;	0.815591718125187	0.696
18	3656086	T	A	18	3656086	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.A713T:p.E238V;DLGAP1:NM_001242763:exon5:c.A755T:p.E252V;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.A713T:p.E238V;ENSG00000170579:ENST00000400149:exon5:c.A743T:p.E248V;ENSG00000170579:ENST00000400150:exon5:c.A737T:p.E246V;	0.790154922066756	0.678
18	3656086	T	C	18	3656086	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.A713G:p.E238G;DLGAP1:NM_001242763:exon5:c.A755G:p.E252G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.A713G:p.E238G;ENSG00000170579:ENST00000400149:exon5:c.A743G:p.E248G;ENSG00000170579:ENST00000400150:exon5:c.A737G:p.E246G;	0.790154922066756	0.68
18	3656086	T	G	18	3656086	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.A713C:p.E238A;DLGAP1:NM_001242763:exon5:c.A755C:p.E252A;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.A713C:p.E238A;ENSG00000170579:ENST00000400149:exon5:c.A743C:p.E248A;ENSG00000170579:ENST00000400150:exon5:c.A737C:p.E246A;	0.640143674805121	0.664
18	3656112	A	C	18	3656112	y	n	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242766:exon5:c.T687G:p.G229G;DLGAP1:NM_001242763:exon5:c.T729G:p.G243G;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.T687G:p.G229G;ENSG00000170579:ENST00000400149:exon5:c.T717G:p.G239G;ENSG00000170579:ENST00000400150:exon5:c.T711G:p.G237G;	0.790154922066756	0.68
18	3656112	A	G	18	3656112	y	n	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242766:exon5:c.T687C:p.G229G;DLGAP1:NM_001242763:exon5:c.T729C:p.G243G;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.T687C:p.G229G;ENSG00000170579:ENST00000400149:exon5:c.T717C:p.G239G;ENSG00000170579:ENST00000400150:exon5:c.T711C:p.G237G;	0.790154922066756	0.68
18	3656112	A	T	18	3656112	y	n	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242766:exon5:c.T687A:p.G229G;DLGAP1:NM_001242763:exon5:c.T729A:p.G243G;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.T687A:p.G229G;ENSG00000170579:ENST00000400149:exon5:c.T717A:p.G239G;ENSG00000170579:ENST00000400150:exon5:c.T711A:p.G237G;	0.815591718125187	0.69
18	3656113	C	A	18	3656113	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.G686T:p.G229V;DLGAP1:NM_001242763:exon5:c.G728T:p.G243V;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.G686T:p.G229V;ENSG00000170579:ENST00000400149:exon5:c.G716T:p.G239V;ENSG00000170579:ENST00000400150:exon5:c.G710T:p.G237V;	0.956895240189375	0.832
18	3656113	C	G	18	3656113	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.G686C:p.G229A;DLGAP1:NM_001242763:exon5:c.G728C:p.G243A;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.G686C:p.G229A;ENSG00000170579:ENST00000400149:exon5:c.G716C:p.G239A;ENSG00000170579:ENST00000400150:exon5:c.G710C:p.G237A;	0.917432808450396	0.772
18	3656113	C	T	18	3656113	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon5:c.G686A:p.G229D;DLGAP1:NM_001242763:exon5:c.G728A:p.G243D;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon5:c.G686A:p.G229D;ENSG00000170579:ENST00000400149:exon5:c.G716A:p.G239D;ENSG00000170579:ENST00000400150:exon5:c.G710A:p.G237D;	0.956895240189375	0.828
18	3656114	C	A	18	3656114	y	n	splicing	DLGAP1(NM_001242766:exon6:c.686-1G>T;NM_001242763:exon6:c.728-1G>T)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.982204158216568	0.842
18	3656114	C	G	18	3656114	y	n	splicing	DLGAP1(NM_001242766:exon6:c.686-1G>C;NM_001242763:exon6:c.728-1G>C)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.982204158216568	0.842
18	3656114	C	T	18	3656114	y	n	splicing	DLGAP1(NM_001242766:exon6:c.686-1G>A;NM_001242763:exon6:c.728-1G>A)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.980772825692481	0.84
18	3656115	T	A	18	3656115	y	n	splicing	DLGAP1(NM_001242766:exon6:c.686-2A>T;NM_001242763:exon6:c.728-2A>T)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815142279600644	0.664
18	3656115	T	C	18	3656115	y	n	splicing	DLGAP1(NM_001242766:exon6:c.686-2A>G;NM_001242763:exon6:c.728-2A>G)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.658
18	3656115	T	G	18	3656115	y	n	splicing	DLGAP1(NM_001242766:exon6:c.686-2A>C;NM_001242763:exon6:c.728-2A>C)	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.658
18	3656116	T	A	18	3656116	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.69
18	3656116	T	C	18	3656116	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.68
18	3656116	T	G	18	3656116	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.68
18	3656117	G	A	18	3656117	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.956895240189375	0.826
18	3656117	G	C	18	3656117	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.917432808450396	0.766
18	3656117	G	T	18	3656117	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.964782643362756	0.848
18	3656118	A	C	18	3656118	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.678
18	3656118	A	G	18	3656118	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.678
18	3656118	A	T	18	3656118	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.69
18	3656119	A	C	18	3656119	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.678
18	3656119	A	G	18	3656119	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.678
18	3656119	A	T	18	3656119	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.69
18	3656120	T	A	18	3656120	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	2.10116834543886E-5	0.022
18	3656120	T	C	18	3656120	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	2.55329374163361E-4	0.05
18	3656120	T	G	18	3656120	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	2.55329374163361E-4	0.046
18	3656121	A	C	18	3656121	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.678
18	3656121	A	G	18	3656121	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.678
18	3656121	A	T	18	3656121	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.69
18	3656122	A	C	18	3656122	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	1.20677554267254E-5	0.032
18	3656122	A	G	18	3656122	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	1.20677554267254E-5	0.034
18	3656122	A	T	18	3656122	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	1.20677554267254E-5	0.036
18	3656123	A	C	18	3656123	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.678
18	3656123	A	G	18	3656123	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.678
18	3656123	A	T	18	3656123	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.692
18	3656124	A	C	18	3656124	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.68
18	3656124	A	G	18	3656124	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.68
18	3656124	A	T	18	3656124	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.692
18	3656125	A	C	18	3656125	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.790154922066756	0.68
18	3656125	A	G	18	3656125	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.771309046383708	0.664
18	3656125	A	T	18	3656125	y	n	intronic	DLGAP1	.	.	ncRNA_exonic	ENSG00000266401	.	.	0.815591718125187	0.692
18	3729127	G	A	18	3729127	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.97878667517764E-5	0.0
18	3729127	G	C	18	3729127	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.85034552248053E-4	0.0
18	3729127	G	T	18	3729127	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.97878667517764E-5	0.0
18	3729128	C	A	18	3729128	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0180736563977637	0.098
18	3729128	C	G	18	3729128	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00690902135767148	0.08
18	3729128	C	T	18	3729128	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0101904282226148	0.082
18	3729129	A	C	18	3729129	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.751404184682619	0.582
18	3729129	A	G	18	3729129	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.820598588832777	0.632
18	3729129	A	T	18	3729129	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.960856563235229	0.746
18	3729130	C	A	18	3729130	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999871515641463	0.796
18	3729130	C	G	18	3729130	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999952791611929	0.934
18	3729130	C	T	18	3729130	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999761429851961	0.886
18	3729131	T	A	18	3729131	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.99834327940771	0.904
18	3729131	T	C	18	3729131	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.997727273519252	0.942
18	3729131	T	G	18	3729131	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.996468037446445	0.898
18	3729132	C	A	18	3729132	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.996488001105146	0.746
18	3729132	C	G	18	3729132	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.998052622774226	0.876
18	3729132	C	T	18	3729132	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00831257205857034	0.07
18	3729133	A	C	18	3729133	y	y	splicing	DLGAP1(NM_004746:exon8:c.1591+2T>G;NM_001242766:exon5:c.685+2T>G;NM_001242764:exon5:c.709+2T>G;NM_001242763:exon5:c.727+2T>G;NM_001242762:exon5:c.727+2T>G;NM_001003809:exon5:c.685+2T>G;NM_001242765:exon5:c.685+2T>G;NM_001242761:exon8:c.1591+2T>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1591+2T>G;ENST00000400150:exon5:c.709+2T>G;ENST00000400155:exon5:c.709+2T>G;ENST00000400149:exon5:c.715+2T>G;ENST00000400147:exon5:c.685+2T>G;ENST00000584874:exon5:c.1591+2T>G;ENST00000534970:exon5:c.727+2T>G;ENST00000539435:exon5:c.685+2T>G;ENST00000581699:exon5:c.709+2T>G;ENST00000400145:exon5:c.685+2T>G;ENST00000515196:exon7:c.1591+2T>G;ENST00000581527:exon8:c.1591+2T>G)	.	.	0.999988247793601	0.93
18	3729133	A	G	18	3729133	y	y	splicing	DLGAP1(NM_004746:exon8:c.1591+2T>C;NM_001242766:exon5:c.685+2T>C;NM_001242764:exon5:c.709+2T>C;NM_001242763:exon5:c.727+2T>C;NM_001242762:exon5:c.727+2T>C;NM_001003809:exon5:c.685+2T>C;NM_001242765:exon5:c.685+2T>C;NM_001242761:exon8:c.1591+2T>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1591+2T>C;ENST00000400150:exon5:c.709+2T>C;ENST00000400155:exon5:c.709+2T>C;ENST00000400149:exon5:c.715+2T>C;ENST00000400147:exon5:c.685+2T>C;ENST00000584874:exon5:c.1591+2T>C;ENST00000534970:exon5:c.727+2T>C;ENST00000539435:exon5:c.685+2T>C;ENST00000581699:exon5:c.709+2T>C;ENST00000400145:exon5:c.685+2T>C;ENST00000515196:exon7:c.1591+2T>C;ENST00000581527:exon8:c.1591+2T>C)	.	.	0.99991520749976	0.87
18	3729133	A	T	18	3729133	y	y	splicing	DLGAP1(NM_004746:exon8:c.1591+2T>A;NM_001242766:exon5:c.685+2T>A;NM_001242764:exon5:c.709+2T>A;NM_001242763:exon5:c.727+2T>A;NM_001242762:exon5:c.727+2T>A;NM_001003809:exon5:c.685+2T>A;NM_001242765:exon5:c.685+2T>A;NM_001242761:exon8:c.1591+2T>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1591+2T>A;ENST00000400150:exon5:c.709+2T>A;ENST00000400155:exon5:c.709+2T>A;ENST00000400149:exon5:c.715+2T>A;ENST00000400147:exon5:c.685+2T>A;ENST00000584874:exon5:c.1591+2T>A;ENST00000534970:exon5:c.727+2T>A;ENST00000539435:exon5:c.685+2T>A;ENST00000581699:exon5:c.709+2T>A;ENST00000400145:exon5:c.685+2T>A;ENST00000515196:exon7:c.1591+2T>A;ENST00000581527:exon8:c.1591+2T>A)	.	.	0.999988247793601	0.932
18	3729134	C	A	18	3729134	y	y	splicing	DLGAP1(NM_004746:exon8:c.1591+1G>T;NM_001242766:exon5:c.685+1G>T;NM_001242764:exon5:c.709+1G>T;NM_001242763:exon5:c.727+1G>T;NM_001242762:exon5:c.727+1G>T;NM_001003809:exon5:c.685+1G>T;NM_001242765:exon5:c.685+1G>T;NM_001242761:exon8:c.1591+1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1591+1G>T;ENST00000400150:exon5:c.709+1G>T;ENST00000400155:exon5:c.709+1G>T;ENST00000400149:exon5:c.715+1G>T;ENST00000400147:exon5:c.685+1G>T;ENST00000584874:exon5:c.1591+1G>T;ENST00000534970:exon5:c.727+1G>T;ENST00000539435:exon5:c.685+1G>T;ENST00000581699:exon5:c.709+1G>T;ENST00000400145:exon5:c.685+1G>T;ENST00000515196:exon7:c.1591+1G>T;ENST00000581527:exon8:c.1591+1G>T)	.	.	0.999989072007339	0.934
18	3729134	C	G	18	3729134	y	y	splicing	DLGAP1(NM_004746:exon8:c.1591+1G>C;NM_001242766:exon5:c.685+1G>C;NM_001242764:exon5:c.709+1G>C;NM_001242763:exon5:c.727+1G>C;NM_001242762:exon5:c.727+1G>C;NM_001003809:exon5:c.685+1G>C;NM_001242765:exon5:c.685+1G>C;NM_001242761:exon8:c.1591+1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1591+1G>C;ENST00000400150:exon5:c.709+1G>C;ENST00000400155:exon5:c.709+1G>C;ENST00000400149:exon5:c.715+1G>C;ENST00000400147:exon5:c.685+1G>C;ENST00000584874:exon5:c.1591+1G>C;ENST00000534970:exon5:c.727+1G>C;ENST00000539435:exon5:c.685+1G>C;ENST00000581699:exon5:c.709+1G>C;ENST00000400145:exon5:c.685+1G>C;ENST00000515196:exon7:c.1591+1G>C;ENST00000581527:exon8:c.1591+1G>C)	.	.	0.999989072007339	0.934
18	3729134	C	T	18	3729134	y	y	splicing	DLGAP1(NM_004746:exon8:c.1591+1G>A;NM_001242766:exon5:c.685+1G>A;NM_001242764:exon5:c.709+1G>A;NM_001242763:exon5:c.727+1G>A;NM_001242762:exon5:c.727+1G>A;NM_001003809:exon5:c.685+1G>A;NM_001242765:exon5:c.685+1G>A;NM_001242761:exon8:c.1591+1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1591+1G>A;ENST00000400150:exon5:c.709+1G>A;ENST00000400155:exon5:c.709+1G>A;ENST00000400149:exon5:c.715+1G>A;ENST00000400147:exon5:c.685+1G>A;ENST00000584874:exon5:c.1591+1G>A;ENST00000534970:exon5:c.727+1G>A;ENST00000539435:exon5:c.685+1G>A;ENST00000581699:exon5:c.709+1G>A;ENST00000400145:exon5:c.685+1G>A;ENST00000515196:exon7:c.1591+1G>A;ENST00000581527:exon8:c.1591+1G>A)	.	.	0.999989072007339	0.934
18	3729135	C	A	18	3729135	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.G1591T:p.V531L;DLGAP1:NM_001242766:exon4:c.G685T:p.G229C;DLGAP1:NM_001003809:exon4:c.G685T:p.V229L;DLGAP1:NM_001242762:exon4:c.G727T:p.A243S;DLGAP1:NM_001242763:exon4:c.G727T:p.G243C;DLGAP1:NM_001242765:exon4:c.G685T:p.V229L;DLGAP1:NM_004746:exon7:c.G1591T:p.V531L;DLGAP1:NM_001242764:exon4:c.G709T:p.V237L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G685T:p.G229C;ENSG00000170579:ENST00000515196:exon6:c.G1591T:p.V531L;ENSG00000170579:ENST00000581699:exon4:c.G709T:p.V237L;ENSG00000170579:ENST00000400145:exon4:c.G685T:p.V229L;ENSG00000170579:ENST00000400147:exon4:c.G685T:p.V229L;ENSG00000170579:ENST00000584874:exon4:c.G1591T:p.V531L;ENSG00000170579:ENST00000315677:exon7:c.G1591T:p.V531L;ENSG00000170579:ENST00000400149:exon4:c.G715T:p.G239C;ENSG00000170579:ENST00000400155:exon4:c.G709T:p.V237L;ENSG00000170579:ENST00000581527:exon7:c.G1591T:p.V531L;ENSG00000170579:ENST00000400150:exon4:c.G709T:p.G237C;ENSG00000170579:ENST00000534970:exon4:c.G727T:p.A243S;	0.999840379033396	0.946
18	3729135	C	G	18	3729135	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.G1591C:p.V531L;DLGAP1:NM_001242766:exon4:c.G685C:p.G229R;DLGAP1:NM_001003809:exon4:c.G685C:p.V229L;DLGAP1:NM_001242762:exon4:c.G727C:p.A243P;DLGAP1:NM_001242763:exon4:c.G727C:p.G243R;DLGAP1:NM_001242765:exon4:c.G685C:p.V229L;DLGAP1:NM_004746:exon7:c.G1591C:p.V531L;DLGAP1:NM_001242764:exon4:c.G709C:p.V237L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G685C:p.G229R;ENSG00000170579:ENST00000515196:exon6:c.G1591C:p.V531L;ENSG00000170579:ENST00000581699:exon4:c.G709C:p.V237L;ENSG00000170579:ENST00000400145:exon4:c.G685C:p.V229L;ENSG00000170579:ENST00000400147:exon4:c.G685C:p.V229L;ENSG00000170579:ENST00000584874:exon4:c.G1591C:p.V531L;ENSG00000170579:ENST00000315677:exon7:c.G1591C:p.V531L;ENSG00000170579:ENST00000400149:exon4:c.G715C:p.G239R;ENSG00000170579:ENST00000400155:exon4:c.G709C:p.V237L;ENSG00000170579:ENST00000581527:exon7:c.G1591C:p.V531L;ENSG00000170579:ENST00000400150:exon4:c.G709C:p.G237R;ENSG00000170579:ENST00000534970:exon4:c.G727C:p.A243P;	0.999945938777463	0.968
18	3729135	C	T	18	3729135	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.G1591A:p.V531M;DLGAP1:NM_001242766:exon4:c.G685A:p.G229S;DLGAP1:NM_001003809:exon4:c.G685A:p.V229M;DLGAP1:NM_001242762:exon4:c.G727A:p.A243T;DLGAP1:NM_001242763:exon4:c.G727A:p.G243S;DLGAP1:NM_001242765:exon4:c.G685A:p.V229M;DLGAP1:NM_004746:exon7:c.G1591A:p.V531M;DLGAP1:NM_001242764:exon4:c.G709A:p.V237M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G685A:p.G229S;ENSG00000170579:ENST00000515196:exon6:c.G1591A:p.V531M;ENSG00000170579:ENST00000581699:exon4:c.G709A:p.V237M;ENSG00000170579:ENST00000400145:exon4:c.G685A:p.V229M;ENSG00000170579:ENST00000400147:exon4:c.G685A:p.V229M;ENSG00000170579:ENST00000584874:exon4:c.G1591A:p.V531M;ENSG00000170579:ENST00000315677:exon7:c.G1591A:p.V531M;ENSG00000170579:ENST00000400149:exon4:c.G715A:p.G239S;ENSG00000170579:ENST00000400155:exon4:c.G709A:p.V237M;ENSG00000170579:ENST00000581527:exon7:c.G1591A:p.V531M;ENSG00000170579:ENST00000400150:exon4:c.G709A:p.G237S;ENSG00000170579:ENST00000534970:exon4:c.G727A:p.A243T;	0.999973192623309	0.976
18	3729136	C	A	18	3729136	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon7:c.G1590T:p.T530T;DLGAP1:NM_001242766:exon4:c.G684T:p.T228T;DLGAP1:NM_001003809:exon4:c.G684T:p.T228T;DLGAP1:NM_001242762:exon4:c.G726T:p.T242T;DLGAP1:NM_001242763:exon4:c.G726T:p.T242T;DLGAP1:NM_001242765:exon4:c.G684T:p.T228T;DLGAP1:NM_004746:exon7:c.G1590T:p.T530T;DLGAP1:NM_001242764:exon4:c.G708T:p.T236T;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G684T:p.T228T;ENSG00000170579:ENST00000515196:exon6:c.G1590T:p.T530T;ENSG00000170579:ENST00000581699:exon4:c.G708T:p.T236T;ENSG00000170579:ENST00000400145:exon4:c.G684T:p.T228T;ENSG00000170579:ENST00000400147:exon4:c.G684T:p.T228T;ENSG00000170579:ENST00000584874:exon4:c.G1590T:p.T530T;ENSG00000170579:ENST00000315677:exon7:c.G1590T:p.T530T;ENSG00000170579:ENST00000400149:exon4:c.G714T:p.T238T;ENSG00000170579:ENST00000400155:exon4:c.G708T:p.T236T;ENSG00000170579:ENST00000581527:exon7:c.G1590T:p.T530T;ENSG00000170579:ENST00000400150:exon4:c.G708T:p.T236T;ENSG00000170579:ENST00000534970:exon4:c.G726T:p.T242T;	1.27541938722828E-4	0.028
18	3729136	C	G	18	3729136	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon7:c.G1590C:p.T530T;DLGAP1:NM_001242766:exon4:c.G684C:p.T228T;DLGAP1:NM_001003809:exon4:c.G684C:p.T228T;DLGAP1:NM_001242762:exon4:c.G726C:p.T242T;DLGAP1:NM_001242763:exon4:c.G726C:p.T242T;DLGAP1:NM_001242765:exon4:c.G684C:p.T228T;DLGAP1:NM_004746:exon7:c.G1590C:p.T530T;DLGAP1:NM_001242764:exon4:c.G708C:p.T236T;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G684C:p.T228T;ENSG00000170579:ENST00000515196:exon6:c.G1590C:p.T530T;ENSG00000170579:ENST00000581699:exon4:c.G708C:p.T236T;ENSG00000170579:ENST00000400145:exon4:c.G684C:p.T228T;ENSG00000170579:ENST00000400147:exon4:c.G684C:p.T228T;ENSG00000170579:ENST00000584874:exon4:c.G1590C:p.T530T;ENSG00000170579:ENST00000315677:exon7:c.G1590C:p.T530T;ENSG00000170579:ENST00000400149:exon4:c.G714C:p.T238T;ENSG00000170579:ENST00000400155:exon4:c.G708C:p.T236T;ENSG00000170579:ENST00000581527:exon7:c.G1590C:p.T530T;ENSG00000170579:ENST00000400150:exon4:c.G708C:p.T236T;ENSG00000170579:ENST00000534970:exon4:c.G726C:p.T242T;	1.41918209513601E-4	0.018
18	3729136	C	T	18	3729136	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon7:c.G1590A:p.T530T;DLGAP1:NM_001242766:exon4:c.G684A:p.T228T;DLGAP1:NM_001003809:exon4:c.G684A:p.T228T;DLGAP1:NM_001242762:exon4:c.G726A:p.T242T;DLGAP1:NM_001242763:exon4:c.G726A:p.T242T;DLGAP1:NM_001242765:exon4:c.G684A:p.T228T;DLGAP1:NM_004746:exon7:c.G1590A:p.T530T;DLGAP1:NM_001242764:exon4:c.G708A:p.T236T;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G684A:p.T228T;ENSG00000170579:ENST00000515196:exon6:c.G1590A:p.T530T;ENSG00000170579:ENST00000581699:exon4:c.G708A:p.T236T;ENSG00000170579:ENST00000400145:exon4:c.G684A:p.T228T;ENSG00000170579:ENST00000400147:exon4:c.G684A:p.T228T;ENSG00000170579:ENST00000584874:exon4:c.G1590A:p.T530T;ENSG00000170579:ENST00000315677:exon7:c.G1590A:p.T530T;ENSG00000170579:ENST00000400149:exon4:c.G714A:p.T238T;ENSG00000170579:ENST00000400155:exon4:c.G708A:p.T236T;ENSG00000170579:ENST00000581527:exon7:c.G1590A:p.T530T;ENSG00000170579:ENST00000400150:exon4:c.G708A:p.T236T;ENSG00000170579:ENST00000534970:exon4:c.G726A:p.T242T;	6.53775360242551E-5	0.042
18	3729137	G	A	18	3729137	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.C1589T:p.T530M;DLGAP1:NM_001242766:exon4:c.C683T:p.T228M;DLGAP1:NM_001003809:exon4:c.C683T:p.T228M;DLGAP1:NM_001242762:exon4:c.C725T:p.T242M;DLGAP1:NM_001242763:exon4:c.C725T:p.T242M;DLGAP1:NM_001242765:exon4:c.C683T:p.T228M;DLGAP1:NM_004746:exon7:c.C1589T:p.T530M;DLGAP1:NM_001242764:exon4:c.C707T:p.T236M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.C683T:p.T228M;ENSG00000170579:ENST00000515196:exon6:c.C1589T:p.T530M;ENSG00000170579:ENST00000581699:exon4:c.C707T:p.T236M;ENSG00000170579:ENST00000400145:exon4:c.C683T:p.T228M;ENSG00000170579:ENST00000400147:exon4:c.C683T:p.T228M;ENSG00000170579:ENST00000584874:exon4:c.C1589T:p.T530M;ENSG00000170579:ENST00000315677:exon7:c.C1589T:p.T530M;ENSG00000170579:ENST00000400149:exon4:c.C713T:p.T238M;ENSG00000170579:ENST00000400155:exon4:c.C707T:p.T236M;ENSG00000170579:ENST00000581527:exon7:c.C1589T:p.T530M;ENSG00000170579:ENST00000400150:exon4:c.C707T:p.T236M;ENSG00000170579:ENST00000534970:exon4:c.C725T:p.T242M;	0.998664900226813	0.776
18	3729137	G	C	18	3729137	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.C1589G:p.T530R;DLGAP1:NM_001242766:exon4:c.C683G:p.T228R;DLGAP1:NM_001003809:exon4:c.C683G:p.T228R;DLGAP1:NM_001242762:exon4:c.C725G:p.T242R;DLGAP1:NM_001242763:exon4:c.C725G:p.T242R;DLGAP1:NM_001242765:exon4:c.C683G:p.T228R;DLGAP1:NM_004746:exon7:c.C1589G:p.T530R;DLGAP1:NM_001242764:exon4:c.C707G:p.T236R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.C683G:p.T228R;ENSG00000170579:ENST00000515196:exon6:c.C1589G:p.T530R;ENSG00000170579:ENST00000581699:exon4:c.C707G:p.T236R;ENSG00000170579:ENST00000400145:exon4:c.C683G:p.T228R;ENSG00000170579:ENST00000400147:exon4:c.C683G:p.T228R;ENSG00000170579:ENST00000584874:exon4:c.C1589G:p.T530R;ENSG00000170579:ENST00000315677:exon7:c.C1589G:p.T530R;ENSG00000170579:ENST00000400149:exon4:c.C713G:p.T238R;ENSG00000170579:ENST00000400155:exon4:c.C707G:p.T236R;ENSG00000170579:ENST00000581527:exon7:c.C1589G:p.T530R;ENSG00000170579:ENST00000400150:exon4:c.C707G:p.T236R;ENSG00000170579:ENST00000534970:exon4:c.C725G:p.T242R;	0.884306641810948	0.646
18	3729137	G	T	18	3729137	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.C1589A:p.T530K;DLGAP1:NM_001242766:exon4:c.C683A:p.T228K;DLGAP1:NM_001003809:exon4:c.C683A:p.T228K;DLGAP1:NM_001242762:exon4:c.C725A:p.T242K;DLGAP1:NM_001242763:exon4:c.C725A:p.T242K;DLGAP1:NM_001242765:exon4:c.C683A:p.T228K;DLGAP1:NM_004746:exon7:c.C1589A:p.T530K;DLGAP1:NM_001242764:exon4:c.C707A:p.T236K;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.C683A:p.T228K;ENSG00000170579:ENST00000515196:exon6:c.C1589A:p.T530K;ENSG00000170579:ENST00000581699:exon4:c.C707A:p.T236K;ENSG00000170579:ENST00000400145:exon4:c.C683A:p.T228K;ENSG00000170579:ENST00000400147:exon4:c.C683A:p.T228K;ENSG00000170579:ENST00000584874:exon4:c.C1589A:p.T530K;ENSG00000170579:ENST00000315677:exon7:c.C1589A:p.T530K;ENSG00000170579:ENST00000400149:exon4:c.C713A:p.T238K;ENSG00000170579:ENST00000400155:exon4:c.C707A:p.T236K;ENSG00000170579:ENST00000581527:exon7:c.C1589A:p.T530K;ENSG00000170579:ENST00000400150:exon4:c.C707A:p.T236K;ENSG00000170579:ENST00000534970:exon4:c.C725A:p.T242K;	0.946794831901684	0.802
18	3729374	A	C	18	3729374	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.T1352G:p.V451G;DLGAP1:NM_001242766:exon4:c.T446G:p.V149G;DLGAP1:NM_001003809:exon4:c.T446G:p.V149G;DLGAP1:NM_001242762:exon4:c.T488G:p.V163G;DLGAP1:NM_001242763:exon4:c.T488G:p.V163G;DLGAP1:NM_001242765:exon4:c.T446G:p.V149G;DLGAP1:NM_004746:exon7:c.T1352G:p.V451G;DLGAP1:NM_001242764:exon4:c.T470G:p.V157G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.T446G:p.V149G;ENSG00000170579:ENST00000515196:exon6:c.T1352G:p.V451G;ENSG00000170579:ENST00000581699:exon4:c.T470G:p.V157G;ENSG00000170579:ENST00000400145:exon4:c.T446G:p.V149G;ENSG00000170579:ENST00000400147:exon4:c.T446G:p.V149G;ENSG00000170579:ENST00000584874:exon4:c.T1352G:p.V451G;ENSG00000170579:ENST00000315677:exon7:c.T1352G:p.V451G;ENSG00000170579:ENST00000400149:exon4:c.T476G:p.V159G;ENSG00000170579:ENST00000400155:exon4:c.T470G:p.V157G;ENSG00000170579:ENST00000581527:exon7:c.T1352G:p.V451G;ENSG00000170579:ENST00000400150:exon4:c.T470G:p.V157G;ENSG00000170579:ENST00000534970:exon4:c.T488G:p.V163G;	0.326441042909424	0.258
18	3729374	A	G	18	3729374	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.T1352C:p.V451A;DLGAP1:NM_001242766:exon4:c.T446C:p.V149A;DLGAP1:NM_001003809:exon4:c.T446C:p.V149A;DLGAP1:NM_001242762:exon4:c.T488C:p.V163A;DLGAP1:NM_001242763:exon4:c.T488C:p.V163A;DLGAP1:NM_001242765:exon4:c.T446C:p.V149A;DLGAP1:NM_004746:exon7:c.T1352C:p.V451A;DLGAP1:NM_001242764:exon4:c.T470C:p.V157A;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.T446C:p.V149A;ENSG00000170579:ENST00000515196:exon6:c.T1352C:p.V451A;ENSG00000170579:ENST00000581699:exon4:c.T470C:p.V157A;ENSG00000170579:ENST00000400145:exon4:c.T446C:p.V149A;ENSG00000170579:ENST00000400147:exon4:c.T446C:p.V149A;ENSG00000170579:ENST00000584874:exon4:c.T1352C:p.V451A;ENSG00000170579:ENST00000315677:exon7:c.T1352C:p.V451A;ENSG00000170579:ENST00000400149:exon4:c.T476C:p.V159A;ENSG00000170579:ENST00000400155:exon4:c.T470C:p.V157A;ENSG00000170579:ENST00000581527:exon7:c.T1352C:p.V451A;ENSG00000170579:ENST00000400150:exon4:c.T470C:p.V157A;ENSG00000170579:ENST00000534970:exon4:c.T488C:p.V163A;	0.45093994039844	0.232
18	3729374	A	T	18	3729374	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.T1352A:p.V451E;DLGAP1:NM_001242766:exon4:c.T446A:p.V149E;DLGAP1:NM_001003809:exon4:c.T446A:p.V149E;DLGAP1:NM_001242762:exon4:c.T488A:p.V163E;DLGAP1:NM_001242763:exon4:c.T488A:p.V163E;DLGAP1:NM_001242765:exon4:c.T446A:p.V149E;DLGAP1:NM_004746:exon7:c.T1352A:p.V451E;DLGAP1:NM_001242764:exon4:c.T470A:p.V157E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.T446A:p.V149E;ENSG00000170579:ENST00000515196:exon6:c.T1352A:p.V451E;ENSG00000170579:ENST00000581699:exon4:c.T470A:p.V157E;ENSG00000170579:ENST00000400145:exon4:c.T446A:p.V149E;ENSG00000170579:ENST00000400147:exon4:c.T446A:p.V149E;ENSG00000170579:ENST00000584874:exon4:c.T1352A:p.V451E;ENSG00000170579:ENST00000315677:exon7:c.T1352A:p.V451E;ENSG00000170579:ENST00000400149:exon4:c.T476A:p.V159E;ENSG00000170579:ENST00000400155:exon4:c.T470A:p.V157E;ENSG00000170579:ENST00000581527:exon7:c.T1352A:p.V451E;ENSG00000170579:ENST00000400150:exon4:c.T470A:p.V157E;ENSG00000170579:ENST00000534970:exon4:c.T488A:p.V163E;	0.315212943549252	0.282
18	3729375	C	A	18	3729375	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.G1351T:p.V451L;DLGAP1:NM_001242766:exon4:c.G445T:p.V149L;DLGAP1:NM_001003809:exon4:c.G445T:p.V149L;DLGAP1:NM_001242762:exon4:c.G487T:p.V163L;DLGAP1:NM_001242763:exon4:c.G487T:p.V163L;DLGAP1:NM_001242765:exon4:c.G445T:p.V149L;DLGAP1:NM_004746:exon7:c.G1351T:p.V451L;DLGAP1:NM_001242764:exon4:c.G469T:p.V157L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G445T:p.V149L;ENSG00000170579:ENST00000515196:exon6:c.G1351T:p.V451L;ENSG00000170579:ENST00000581699:exon4:c.G469T:p.V157L;ENSG00000170579:ENST00000400145:exon4:c.G445T:p.V149L;ENSG00000170579:ENST00000400147:exon4:c.G445T:p.V149L;ENSG00000170579:ENST00000584874:exon4:c.G1351T:p.V451L;ENSG00000170579:ENST00000315677:exon7:c.G1351T:p.V451L;ENSG00000170579:ENST00000400149:exon4:c.G475T:p.V159L;ENSG00000170579:ENST00000400155:exon4:c.G469T:p.V157L;ENSG00000170579:ENST00000581527:exon7:c.G1351T:p.V451L;ENSG00000170579:ENST00000400150:exon4:c.G469T:p.V157L;ENSG00000170579:ENST00000534970:exon4:c.G487T:p.V163L;	0.998678933038003	0.934
18	3729375	C	G	18	3729375	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.G1351C:p.V451L;DLGAP1:NM_001242766:exon4:c.G445C:p.V149L;DLGAP1:NM_001003809:exon4:c.G445C:p.V149L;DLGAP1:NM_001242762:exon4:c.G487C:p.V163L;DLGAP1:NM_001242763:exon4:c.G487C:p.V163L;DLGAP1:NM_001242765:exon4:c.G445C:p.V149L;DLGAP1:NM_004746:exon7:c.G1351C:p.V451L;DLGAP1:NM_001242764:exon4:c.G469C:p.V157L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G445C:p.V149L;ENSG00000170579:ENST00000515196:exon6:c.G1351C:p.V451L;ENSG00000170579:ENST00000581699:exon4:c.G469C:p.V157L;ENSG00000170579:ENST00000400145:exon4:c.G445C:p.V149L;ENSG00000170579:ENST00000400147:exon4:c.G445C:p.V149L;ENSG00000170579:ENST00000584874:exon4:c.G1351C:p.V451L;ENSG00000170579:ENST00000315677:exon7:c.G1351C:p.V451L;ENSG00000170579:ENST00000400149:exon4:c.G475C:p.V159L;ENSG00000170579:ENST00000400155:exon4:c.G469C:p.V157L;ENSG00000170579:ENST00000581527:exon7:c.G1351C:p.V451L;ENSG00000170579:ENST00000400150:exon4:c.G469C:p.V157L;ENSG00000170579:ENST00000534970:exon4:c.G487C:p.V163L;	0.998002222983236	0.884
18	3729375	C	T	18	3729375	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon7:c.G1351A:p.V451M;DLGAP1:NM_001242766:exon4:c.G445A:p.V149M;DLGAP1:NM_001003809:exon4:c.G445A:p.V149M;DLGAP1:NM_001242762:exon4:c.G487A:p.V163M;DLGAP1:NM_001242763:exon4:c.G487A:p.V163M;DLGAP1:NM_001242765:exon4:c.G445A:p.V149M;DLGAP1:NM_004746:exon7:c.G1351A:p.V451M;DLGAP1:NM_001242764:exon4:c.G469A:p.V157M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon4:c.G445A:p.V149M;ENSG00000170579:ENST00000515196:exon6:c.G1351A:p.V451M;ENSG00000170579:ENST00000581699:exon4:c.G469A:p.V157M;ENSG00000170579:ENST00000400145:exon4:c.G445A:p.V149M;ENSG00000170579:ENST00000400147:exon4:c.G445A:p.V149M;ENSG00000170579:ENST00000584874:exon4:c.G1351A:p.V451M;ENSG00000170579:ENST00000315677:exon7:c.G1351A:p.V451M;ENSG00000170579:ENST00000400149:exon4:c.G475A:p.V159M;ENSG00000170579:ENST00000400155:exon4:c.G469A:p.V157M;ENSG00000170579:ENST00000581527:exon7:c.G1351A:p.V451M;ENSG00000170579:ENST00000400150:exon4:c.G469A:p.V157M;ENSG00000170579:ENST00000534970:exon4:c.G487A:p.V163M;	0.999669612167253	0.826
18	3729376	C	A	18	3729376	y	y	splicing	DLGAP1(NM_004746:exon8:c.1351-1G>T;NM_001242766:exon5:c.445-1G>T;NM_001242764:exon5:c.469-1G>T;NM_001242763:exon5:c.487-1G>T;NM_001242762:exon5:c.487-1G>T;NM_001003809:exon5:c.445-1G>T;NM_001242765:exon5:c.445-1G>T;NM_001242761:exon8:c.1351-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1351-1G>T;ENST00000400150:exon5:c.469-1G>T;ENST00000400155:exon5:c.469-1G>T;ENST00000400149:exon5:c.475-1G>T;ENST00000400147:exon5:c.445-1G>T;ENST00000584874:exon5:c.1351-1G>T;ENST00000534970:exon5:c.487-1G>T;ENST00000539435:exon5:c.445-1G>T;ENST00000581699:exon5:c.469-1G>T;ENST00000400145:exon5:c.445-1G>T;ENST00000515196:exon7:c.1351-1G>T;ENST00000581527:exon8:c.1351-1G>T)	.	.	0.999977614472875	0.77
18	3729376	C	G	18	3729376	y	y	splicing	DLGAP1(NM_004746:exon8:c.1351-1G>C;NM_001242766:exon5:c.445-1G>C;NM_001242764:exon5:c.469-1G>C;NM_001242763:exon5:c.487-1G>C;NM_001242762:exon5:c.487-1G>C;NM_001003809:exon5:c.445-1G>C;NM_001242765:exon5:c.445-1G>C;NM_001242761:exon8:c.1351-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1351-1G>C;ENST00000400150:exon5:c.469-1G>C;ENST00000400155:exon5:c.469-1G>C;ENST00000400149:exon5:c.475-1G>C;ENST00000400147:exon5:c.445-1G>C;ENST00000584874:exon5:c.1351-1G>C;ENST00000534970:exon5:c.487-1G>C;ENST00000539435:exon5:c.445-1G>C;ENST00000581699:exon5:c.469-1G>C;ENST00000400145:exon5:c.445-1G>C;ENST00000515196:exon7:c.1351-1G>C;ENST00000581527:exon8:c.1351-1G>C)	.	.	0.999982312740861	0.77
18	3729376	C	T	18	3729376	y	y	splicing	DLGAP1(NM_004746:exon8:c.1351-1G>A;NM_001242766:exon5:c.445-1G>A;NM_001242764:exon5:c.469-1G>A;NM_001242763:exon5:c.487-1G>A;NM_001242762:exon5:c.487-1G>A;NM_001003809:exon5:c.445-1G>A;NM_001242765:exon5:c.445-1G>A;NM_001242761:exon8:c.1351-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1351-1G>A;ENST00000400150:exon5:c.469-1G>A;ENST00000400155:exon5:c.469-1G>A;ENST00000400149:exon5:c.475-1G>A;ENST00000400147:exon5:c.445-1G>A;ENST00000584874:exon5:c.1351-1G>A;ENST00000534970:exon5:c.487-1G>A;ENST00000539435:exon5:c.445-1G>A;ENST00000581699:exon5:c.469-1G>A;ENST00000400145:exon5:c.445-1G>A;ENST00000515196:exon7:c.1351-1G>A;ENST00000581527:exon8:c.1351-1G>A)	.	.	0.999977614472875	0.762
18	3729377	T	A	18	3729377	y	y	splicing	DLGAP1(NM_004746:exon8:c.1351-2A>T;NM_001242766:exon5:c.445-2A>T;NM_001242764:exon5:c.469-2A>T;NM_001242763:exon5:c.487-2A>T;NM_001242762:exon5:c.487-2A>T;NM_001003809:exon5:c.445-2A>T;NM_001242765:exon5:c.445-2A>T;NM_001242761:exon8:c.1351-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1351-2A>T;ENST00000400150:exon5:c.469-2A>T;ENST00000400155:exon5:c.469-2A>T;ENST00000400149:exon5:c.475-2A>T;ENST00000400147:exon5:c.445-2A>T;ENST00000584874:exon5:c.1351-2A>T;ENST00000534970:exon5:c.487-2A>T;ENST00000539435:exon5:c.445-2A>T;ENST00000581699:exon5:c.469-2A>T;ENST00000400145:exon5:c.445-2A>T;ENST00000515196:exon7:c.1351-2A>T;ENST00000581527:exon8:c.1351-2A>T)	.	.	0.999984399620937	0.748
18	3729377	T	C	18	3729377	y	y	splicing	DLGAP1(NM_004746:exon8:c.1351-2A>G;NM_001242766:exon5:c.445-2A>G;NM_001242764:exon5:c.469-2A>G;NM_001242763:exon5:c.487-2A>G;NM_001242762:exon5:c.487-2A>G;NM_001003809:exon5:c.445-2A>G;NM_001242765:exon5:c.445-2A>G;NM_001242761:exon8:c.1351-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1351-2A>G;ENST00000400150:exon5:c.469-2A>G;ENST00000400155:exon5:c.469-2A>G;ENST00000400149:exon5:c.475-2A>G;ENST00000400147:exon5:c.445-2A>G;ENST00000584874:exon5:c.1351-2A>G;ENST00000534970:exon5:c.487-2A>G;ENST00000539435:exon5:c.445-2A>G;ENST00000581699:exon5:c.469-2A>G;ENST00000400145:exon5:c.445-2A>G;ENST00000515196:exon7:c.1351-2A>G;ENST00000581527:exon8:c.1351-2A>G)	.	.	0.999989378869813	0.754
18	3729377	T	G	18	3729377	y	y	splicing	DLGAP1(NM_004746:exon8:c.1351-2A>C;NM_001242766:exon5:c.445-2A>C;NM_001242764:exon5:c.469-2A>C;NM_001242763:exon5:c.487-2A>C;NM_001242762:exon5:c.487-2A>C;NM_001003809:exon5:c.445-2A>C;NM_001242765:exon5:c.445-2A>C;NM_001242761:exon8:c.1351-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon8:c.1351-2A>C;ENST00000400150:exon5:c.469-2A>C;ENST00000400155:exon5:c.469-2A>C;ENST00000400149:exon5:c.475-2A>C;ENST00000400147:exon5:c.445-2A>C;ENST00000584874:exon5:c.1351-2A>C;ENST00000534970:exon5:c.487-2A>C;ENST00000539435:exon5:c.445-2A>C;ENST00000581699:exon5:c.469-2A>C;ENST00000400145:exon5:c.445-2A>C;ENST00000515196:exon7:c.1351-2A>C;ENST00000581527:exon8:c.1351-2A>C)	.	.	0.999989378869813	0.754
18	3729378	G	A	18	3729378	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00260593972210214	0.032
18	3729378	G	C	18	3729378	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999862867251194	0.96
18	3729378	G	T	18	3729378	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.775479380598031	0.668
18	3729379	C	A	18	3729379	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.19946058166575E-4	0.01
18	3729379	C	G	18	3729379	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.03145622893655E-5	0.004
18	3729379	C	T	18	3729379	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.40568768829684E-4	0.006
18	3729380	G	A	18	3729380	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.10096563524084E-5	0.006
18	3729380	G	C	18	3729380	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00413189852927513	0.08
18	3729380	G	T	18	3729380	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999694515963301	0.886
18	3729381	G	A	18	3729381	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.7114976674738E-5	0.014
18	3729381	G	C	18	3729381	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00248631184267298	0.21
18	3729381	G	T	18	3729381	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00357064013511682	0.192
18	3729382	G	A	18	3729382	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.34411543564797E-5	0.0
18	3729382	G	C	18	3729382	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00126285891657113	0.104
18	3729382	G	T	18	3729382	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00297507460507079	0.106
18	3729383	C	A	18	3729383	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.51678320739748E-5	0.0
18	3729383	C	G	18	3729383	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.51678320739748E-5	0.0
18	3729383	C	T	18	3729383	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.21680544432788E-4	0.084
18	3729384	A	C	18	3729384	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00396507378486763	0.092
18	3729384	A	G	18	3729384	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.33535968449267E-4	0.024
18	3729384	A	T	18	3729384	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.998480925807835	0.968
18	3729385	G	A	18	3729385	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.37010936302734E-4	0.0
18	3729385	G	C	18	3729385	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00494318950068778	0.034
18	3729385	G	T	18	3729385	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0145700573172253	0.06
18	3729386	A	C	18	3729386	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.555935037234466	0.486
18	3729386	A	G	18	3729386	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.95655282236002E-4	0.042
18	3729386	A	T	18	3729386	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.52119408638632	0.512
18	3729387	C	A	18	3729387	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.43673631668907E-5	0.028
18	3729387	C	G	18	3729387	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.43673631668907E-5	0.0
18	3729387	C	T	18	3729387	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.79643108011199E-5	0.0
18	3742327	G	A	18	3742327	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.61871598183168E-5	0.0
18	3742327	G	C	18	3742327	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.38419143041662E-5	0.002
18	3742327	G	T	18	3742327	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.66788996267205E-5	0.0
18	3742328	C	A	18	3742328	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.83340384846294E-5	0.014
18	3742328	C	G	18	3742328	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.78662238186337E-5	0.014
18	3742328	C	T	18	3742328	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.92780622847185E-5	0.014
18	3742329	C	A	18	3742329	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.55955572115086E-5	0.0
18	3742329	C	G	18	3742329	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.34804234922182E-5	0.0
18	3742329	C	T	18	3742329	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.10213980422312E-5	0.0
18	3742330	C	A	18	3742330	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.997556204102509	0.774
18	3742330	C	G	18	3742330	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.509624668007056	0.518
18	3742330	C	T	18	3742330	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.804267313947862	0.738
18	3742331	T	A	18	3742331	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.941716201944366	0.574
18	3742331	T	C	18	3742331	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.952767490803724	0.628
18	3742331	T	G	18	3742331	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.721659306396136	0.498
18	3742332	C	A	18	3742332	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0883233628387538	0.336
18	3742332	C	G	18	3742332	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0630842686975048	0.312
18	3742332	C	T	18	3742332	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.62032573833014E-5	0.0
18	3742333	A	C	18	3742333	y	y	splicing	DLGAP1(NM_004746:exon7:c.1350+2T>G;NM_001242766:exon4:c.444+2T>G;NM_001242764:exon4:c.468+2T>G;NM_001242763:exon4:c.486+2T>G;NM_001242762:exon4:c.486+2T>G;NM_001003809:exon4:c.444+2T>G;NM_001242765:exon4:c.444+2T>G;NM_001242761:exon7:c.1350+2T>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1350+2T>G;ENST00000400150:exon4:c.468+2T>G;ENST00000400155:exon4:c.468+2T>G;ENST00000400149:exon4:c.474+2T>G;ENST00000400147:exon4:c.444+2T>G;ENST00000584874:exon4:c.1350+2T>G;ENST00000534970:exon4:c.486+2T>G;ENST00000539435:exon4:c.444+2T>G;ENST00000581699:exon4:c.468+2T>G;ENST00000400145:exon4:c.444+2T>G;ENST00000515196:exon6:c.1350+2T>G;ENST00000581527:exon7:c.1350+2T>G)	.	.	0.999980516178445	0.84
18	3742333	A	G	18	3742333	y	y	splicing	DLGAP1(NM_004746:exon7:c.1350+2T>C;NM_001242766:exon4:c.444+2T>C;NM_001242764:exon4:c.468+2T>C;NM_001242763:exon4:c.486+2T>C;NM_001242762:exon4:c.486+2T>C;NM_001003809:exon4:c.444+2T>C;NM_001242765:exon4:c.444+2T>C;NM_001242761:exon7:c.1350+2T>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1350+2T>C;ENST00000400150:exon4:c.468+2T>C;ENST00000400155:exon4:c.468+2T>C;ENST00000400149:exon4:c.474+2T>C;ENST00000400147:exon4:c.444+2T>C;ENST00000584874:exon4:c.1350+2T>C;ENST00000534970:exon4:c.486+2T>C;ENST00000539435:exon4:c.444+2T>C;ENST00000581699:exon4:c.468+2T>C;ENST00000400145:exon4:c.444+2T>C;ENST00000515196:exon6:c.1350+2T>C;ENST00000581527:exon7:c.1350+2T>C)	.	.	0.999544122669234	0.79
18	3742333	A	T	18	3742333	y	y	splicing	DLGAP1(NM_004746:exon7:c.1350+2T>A;NM_001242766:exon4:c.444+2T>A;NM_001242764:exon4:c.468+2T>A;NM_001242763:exon4:c.486+2T>A;NM_001242762:exon4:c.486+2T>A;NM_001003809:exon4:c.444+2T>A;NM_001242765:exon4:c.444+2T>A;NM_001242761:exon7:c.1350+2T>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1350+2T>A;ENST00000400150:exon4:c.468+2T>A;ENST00000400155:exon4:c.468+2T>A;ENST00000400149:exon4:c.474+2T>A;ENST00000400147:exon4:c.444+2T>A;ENST00000584874:exon4:c.1350+2T>A;ENST00000534970:exon4:c.486+2T>A;ENST00000539435:exon4:c.444+2T>A;ENST00000581699:exon4:c.468+2T>A;ENST00000400145:exon4:c.444+2T>A;ENST00000515196:exon6:c.1350+2T>A;ENST00000581527:exon7:c.1350+2T>A)	.	.	0.99998382861657	0.842
18	3742334	C	A	18	3742334	y	y	splicing	DLGAP1(NM_004746:exon7:c.1350+1G>T;NM_001242766:exon4:c.444+1G>T;NM_001242764:exon4:c.468+1G>T;NM_001242763:exon4:c.486+1G>T;NM_001242762:exon4:c.486+1G>T;NM_001003809:exon4:c.444+1G>T;NM_001242765:exon4:c.444+1G>T;NM_001242761:exon7:c.1350+1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1350+1G>T;ENST00000400150:exon4:c.468+1G>T;ENST00000400155:exon4:c.468+1G>T;ENST00000400149:exon4:c.474+1G>T;ENST00000400147:exon4:c.444+1G>T;ENST00000584874:exon4:c.1350+1G>T;ENST00000534970:exon4:c.486+1G>T;ENST00000539435:exon4:c.444+1G>T;ENST00000581699:exon4:c.468+1G>T;ENST00000400145:exon4:c.444+1G>T;ENST00000515196:exon6:c.1350+1G>T;ENST00000581527:exon7:c.1350+1G>T)	.	.	0.999938990645747	0.944
18	3742334	C	G	18	3742334	y	y	splicing	DLGAP1(NM_004746:exon7:c.1350+1G>C;NM_001242766:exon4:c.444+1G>C;NM_001242764:exon4:c.468+1G>C;NM_001242763:exon4:c.486+1G>C;NM_001242762:exon4:c.486+1G>C;NM_001003809:exon4:c.444+1G>C;NM_001242765:exon4:c.444+1G>C;NM_001242761:exon7:c.1350+1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1350+1G>C;ENST00000400150:exon4:c.468+1G>C;ENST00000400155:exon4:c.468+1G>C;ENST00000400149:exon4:c.474+1G>C;ENST00000400147:exon4:c.444+1G>C;ENST00000584874:exon4:c.1350+1G>C;ENST00000534970:exon4:c.486+1G>C;ENST00000539435:exon4:c.444+1G>C;ENST00000581699:exon4:c.468+1G>C;ENST00000400145:exon4:c.444+1G>C;ENST00000515196:exon6:c.1350+1G>C;ENST00000581527:exon7:c.1350+1G>C)	.	.	0.999960200702261	0.942
18	3742334	C	T	18	3742334	y	y	splicing	DLGAP1(NM_004746:exon7:c.1350+1G>A;NM_001242766:exon4:c.444+1G>A;NM_001242764:exon4:c.468+1G>A;NM_001242763:exon4:c.486+1G>A;NM_001242762:exon4:c.486+1G>A;NM_001003809:exon4:c.444+1G>A;NM_001242765:exon4:c.444+1G>A;NM_001242761:exon7:c.1350+1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1350+1G>A;ENST00000400150:exon4:c.468+1G>A;ENST00000400155:exon4:c.468+1G>A;ENST00000400149:exon4:c.474+1G>A;ENST00000400147:exon4:c.444+1G>A;ENST00000584874:exon4:c.1350+1G>A;ENST00000534970:exon4:c.486+1G>A;ENST00000539435:exon4:c.444+1G>A;ENST00000581699:exon4:c.468+1G>A;ENST00000400145:exon4:c.444+1G>A;ENST00000515196:exon6:c.1350+1G>A;ENST00000581527:exon7:c.1350+1G>A)	.	.	0.999938990645747	0.936
18	3742335	C	A	18	3742335	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.G1350T:p.Q450H;DLGAP1:NM_001242766:exon3:c.G444T:p.Q148H;DLGAP1:NM_001003809:exon3:c.G444T:p.Q148H;DLGAP1:NM_001242762:exon3:c.G486T:p.Q162H;DLGAP1:NM_001242763:exon3:c.G486T:p.Q162H;DLGAP1:NM_001242765:exon3:c.G444T:p.Q148H;DLGAP1:NM_004746:exon6:c.G1350T:p.Q450H;DLGAP1:NM_001242764:exon3:c.G468T:p.Q156H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.G444T:p.Q148H;ENSG00000170579:ENST00000515196:exon5:c.G1350T:p.Q450H;ENSG00000170579:ENST00000581699:exon3:c.G468T:p.Q156H;ENSG00000170579:ENST00000400145:exon3:c.G444T:p.Q148H;ENSG00000170579:ENST00000400147:exon3:c.G444T:p.Q148H;ENSG00000170579:ENST00000584874:exon3:c.G1350T:p.Q450H;ENSG00000170579:ENST00000315677:exon6:c.G1350T:p.Q450H;ENSG00000170579:ENST00000400149:exon3:c.G474T:p.Q158H;ENSG00000170579:ENST00000400155:exon3:c.G468T:p.Q156H;ENSG00000170579:ENST00000581527:exon6:c.G1350T:p.Q450H;ENSG00000170579:ENST00000400150:exon3:c.G468T:p.Q156H;ENSG00000170579:ENST00000534970:exon3:c.G486T:p.Q162H;	0.998138649114513	0.96
18	3742335	C	G	18	3742335	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.G1350C:p.Q450H;DLGAP1:NM_001242766:exon3:c.G444C:p.Q148H;DLGAP1:NM_001003809:exon3:c.G444C:p.Q148H;DLGAP1:NM_001242762:exon3:c.G486C:p.Q162H;DLGAP1:NM_001242763:exon3:c.G486C:p.Q162H;DLGAP1:NM_001242765:exon3:c.G444C:p.Q148H;DLGAP1:NM_004746:exon6:c.G1350C:p.Q450H;DLGAP1:NM_001242764:exon3:c.G468C:p.Q156H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.G444C:p.Q148H;ENSG00000170579:ENST00000515196:exon5:c.G1350C:p.Q450H;ENSG00000170579:ENST00000581699:exon3:c.G468C:p.Q156H;ENSG00000170579:ENST00000400145:exon3:c.G444C:p.Q148H;ENSG00000170579:ENST00000400147:exon3:c.G444C:p.Q148H;ENSG00000170579:ENST00000584874:exon3:c.G1350C:p.Q450H;ENSG00000170579:ENST00000315677:exon6:c.G1350C:p.Q450H;ENSG00000170579:ENST00000400149:exon3:c.G474C:p.Q158H;ENSG00000170579:ENST00000400155:exon3:c.G468C:p.Q156H;ENSG00000170579:ENST00000581527:exon6:c.G1350C:p.Q450H;ENSG00000170579:ENST00000400150:exon3:c.G468C:p.Q156H;ENSG00000170579:ENST00000534970:exon3:c.G486C:p.Q162H;	0.999707937456153	0.928
18	3742335	C	T	18	3742335	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon6:c.G1350A:p.Q450Q;DLGAP1:NM_001242766:exon3:c.G444A:p.Q148Q;DLGAP1:NM_001003809:exon3:c.G444A:p.Q148Q;DLGAP1:NM_001242762:exon3:c.G486A:p.Q162Q;DLGAP1:NM_001242763:exon3:c.G486A:p.Q162Q;DLGAP1:NM_001242765:exon3:c.G444A:p.Q148Q;DLGAP1:NM_004746:exon6:c.G1350A:p.Q450Q;DLGAP1:NM_001242764:exon3:c.G468A:p.Q156Q;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.G444A:p.Q148Q;ENSG00000170579:ENST00000515196:exon5:c.G1350A:p.Q450Q;ENSG00000170579:ENST00000581699:exon3:c.G468A:p.Q156Q;ENSG00000170579:ENST00000400145:exon3:c.G444A:p.Q148Q;ENSG00000170579:ENST00000400147:exon3:c.G444A:p.Q148Q;ENSG00000170579:ENST00000584874:exon3:c.G1350A:p.Q450Q;ENSG00000170579:ENST00000315677:exon6:c.G1350A:p.Q450Q;ENSG00000170579:ENST00000400149:exon3:c.G474A:p.Q158Q;ENSG00000170579:ENST00000400155:exon3:c.G468A:p.Q156Q;ENSG00000170579:ENST00000581527:exon6:c.G1350A:p.Q450Q;ENSG00000170579:ENST00000400150:exon3:c.G468A:p.Q156Q;ENSG00000170579:ENST00000534970:exon3:c.G486A:p.Q162Q;	0.983473319185863	0.84
18	3742336	T	A	18	3742336	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.A1349T:p.Q450L;DLGAP1:NM_001242766:exon3:c.A443T:p.Q148L;DLGAP1:NM_001003809:exon3:c.A443T:p.Q148L;DLGAP1:NM_001242762:exon3:c.A485T:p.Q162L;DLGAP1:NM_001242763:exon3:c.A485T:p.Q162L;DLGAP1:NM_001242765:exon3:c.A443T:p.Q148L;DLGAP1:NM_004746:exon6:c.A1349T:p.Q450L;DLGAP1:NM_001242764:exon3:c.A467T:p.Q156L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A443T:p.Q148L;ENSG00000170579:ENST00000515196:exon5:c.A1349T:p.Q450L;ENSG00000170579:ENST00000581699:exon3:c.A467T:p.Q156L;ENSG00000170579:ENST00000400145:exon3:c.A443T:p.Q148L;ENSG00000170579:ENST00000400147:exon3:c.A443T:p.Q148L;ENSG00000170579:ENST00000584874:exon3:c.A1349T:p.Q450L;ENSG00000170579:ENST00000315677:exon6:c.A1349T:p.Q450L;ENSG00000170579:ENST00000400149:exon3:c.A473T:p.Q158L;ENSG00000170579:ENST00000400155:exon3:c.A467T:p.Q156L;ENSG00000170579:ENST00000581527:exon6:c.A1349T:p.Q450L;ENSG00000170579:ENST00000400150:exon3:c.A467T:p.Q156L;ENSG00000170579:ENST00000534970:exon3:c.A485T:p.Q162L;	0.0486512477587868	0.452
18	3742336	T	C	18	3742336	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.A1349G:p.Q450R;DLGAP1:NM_001242766:exon3:c.A443G:p.Q148R;DLGAP1:NM_001003809:exon3:c.A443G:p.Q148R;DLGAP1:NM_001242762:exon3:c.A485G:p.Q162R;DLGAP1:NM_001242763:exon3:c.A485G:p.Q162R;DLGAP1:NM_001242765:exon3:c.A443G:p.Q148R;DLGAP1:NM_004746:exon6:c.A1349G:p.Q450R;DLGAP1:NM_001242764:exon3:c.A467G:p.Q156R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A443G:p.Q148R;ENSG00000170579:ENST00000515196:exon5:c.A1349G:p.Q450R;ENSG00000170579:ENST00000581699:exon3:c.A467G:p.Q156R;ENSG00000170579:ENST00000400145:exon3:c.A443G:p.Q148R;ENSG00000170579:ENST00000400147:exon3:c.A443G:p.Q148R;ENSG00000170579:ENST00000584874:exon3:c.A1349G:p.Q450R;ENSG00000170579:ENST00000315677:exon6:c.A1349G:p.Q450R;ENSG00000170579:ENST00000400149:exon3:c.A473G:p.Q158R;ENSG00000170579:ENST00000400155:exon3:c.A467G:p.Q156R;ENSG00000170579:ENST00000581527:exon6:c.A1349G:p.Q450R;ENSG00000170579:ENST00000400150:exon3:c.A467G:p.Q156R;ENSG00000170579:ENST00000534970:exon3:c.A485G:p.Q162R;	0.171145565521599	0.396
18	3742336	T	G	18	3742336	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.A1349C:p.Q450P;DLGAP1:NM_001242766:exon3:c.A443C:p.Q148P;DLGAP1:NM_001003809:exon3:c.A443C:p.Q148P;DLGAP1:NM_001242762:exon3:c.A485C:p.Q162P;DLGAP1:NM_001242763:exon3:c.A485C:p.Q162P;DLGAP1:NM_001242765:exon3:c.A443C:p.Q148P;DLGAP1:NM_004746:exon6:c.A1349C:p.Q450P;DLGAP1:NM_001242764:exon3:c.A467C:p.Q156P;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A443C:p.Q148P;ENSG00000170579:ENST00000515196:exon5:c.A1349C:p.Q450P;ENSG00000170579:ENST00000581699:exon3:c.A467C:p.Q156P;ENSG00000170579:ENST00000400145:exon3:c.A443C:p.Q148P;ENSG00000170579:ENST00000400147:exon3:c.A443C:p.Q148P;ENSG00000170579:ENST00000584874:exon3:c.A1349C:p.Q450P;ENSG00000170579:ENST00000315677:exon6:c.A1349C:p.Q450P;ENSG00000170579:ENST00000400149:exon3:c.A473C:p.Q158P;ENSG00000170579:ENST00000400155:exon3:c.A467C:p.Q156P;ENSG00000170579:ENST00000581527:exon6:c.A1349C:p.Q450P;ENSG00000170579:ENST00000400150:exon3:c.A467C:p.Q156P;ENSG00000170579:ENST00000534970:exon3:c.A485C:p.Q162P;	0.02318419981433	0.352
18	3742337	G	A	18	3742337	y	y	exonic	DLGAP1	stopgain SNV	DLGAP1:NM_001242761:exon6:c.C1348T:p.Q450X;DLGAP1:NM_001242766:exon3:c.C442T:p.Q148X;DLGAP1:NM_001003809:exon3:c.C442T:p.Q148X;DLGAP1:NM_001242762:exon3:c.C484T:p.Q162X;DLGAP1:NM_001242763:exon3:c.C484T:p.Q162X;DLGAP1:NM_001242765:exon3:c.C442T:p.Q148X;DLGAP1:NM_004746:exon6:c.C1348T:p.Q450X;DLGAP1:NM_001242764:exon3:c.C466T:p.Q156X;	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000539435:exon3:c.C442T:p.Q148X;ENSG00000170579:ENST00000515196:exon5:c.C1348T:p.Q450X;ENSG00000170579:ENST00000581699:exon3:c.C466T:p.Q156X;ENSG00000170579:ENST00000400145:exon3:c.C442T:p.Q148X;ENSG00000170579:ENST00000400147:exon3:c.C442T:p.Q148X;ENSG00000170579:ENST00000584874:exon3:c.C1348T:p.Q450X;ENSG00000170579:ENST00000315677:exon6:c.C1348T:p.Q450X;ENSG00000170579:ENST00000400149:exon3:c.C472T:p.Q158X;ENSG00000170579:ENST00000400155:exon3:c.C466T:p.Q156X;ENSG00000170579:ENST00000581527:exon6:c.C1348T:p.Q450X;ENSG00000170579:ENST00000400150:exon3:c.C466T:p.Q156X;ENSG00000170579:ENST00000534970:exon3:c.C484T:p.Q162X;	0.992700524459217	0.842
18	3742337	G	C	18	3742337	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.C1348G:p.Q450E;DLGAP1:NM_001242766:exon3:c.C442G:p.Q148E;DLGAP1:NM_001003809:exon3:c.C442G:p.Q148E;DLGAP1:NM_001242762:exon3:c.C484G:p.Q162E;DLGAP1:NM_001242763:exon3:c.C484G:p.Q162E;DLGAP1:NM_001242765:exon3:c.C442G:p.Q148E;DLGAP1:NM_004746:exon6:c.C1348G:p.Q450E;DLGAP1:NM_001242764:exon3:c.C466G:p.Q156E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.C442G:p.Q148E;ENSG00000170579:ENST00000515196:exon5:c.C1348G:p.Q450E;ENSG00000170579:ENST00000581699:exon3:c.C466G:p.Q156E;ENSG00000170579:ENST00000400145:exon3:c.C442G:p.Q148E;ENSG00000170579:ENST00000400147:exon3:c.C442G:p.Q148E;ENSG00000170579:ENST00000584874:exon3:c.C1348G:p.Q450E;ENSG00000170579:ENST00000315677:exon6:c.C1348G:p.Q450E;ENSG00000170579:ENST00000400149:exon3:c.C472G:p.Q158E;ENSG00000170579:ENST00000400155:exon3:c.C466G:p.Q156E;ENSG00000170579:ENST00000581527:exon6:c.C1348G:p.Q450E;ENSG00000170579:ENST00000400150:exon3:c.C466G:p.Q156E;ENSG00000170579:ENST00000534970:exon3:c.C484G:p.Q162E;	0.892652424850158	0.544
18	3742337	G	T	18	3742337	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.C1348A:p.Q450K;DLGAP1:NM_001242766:exon3:c.C442A:p.Q148K;DLGAP1:NM_001003809:exon3:c.C442A:p.Q148K;DLGAP1:NM_001242762:exon3:c.C484A:p.Q162K;DLGAP1:NM_001242763:exon3:c.C484A:p.Q162K;DLGAP1:NM_001242765:exon3:c.C442A:p.Q148K;DLGAP1:NM_004746:exon6:c.C1348A:p.Q450K;DLGAP1:NM_001242764:exon3:c.C466A:p.Q156K;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.C442A:p.Q148K;ENSG00000170579:ENST00000515196:exon5:c.C1348A:p.Q450K;ENSG00000170579:ENST00000581699:exon3:c.C466A:p.Q156K;ENSG00000170579:ENST00000400145:exon3:c.C442A:p.Q148K;ENSG00000170579:ENST00000400147:exon3:c.C442A:p.Q148K;ENSG00000170579:ENST00000584874:exon3:c.C1348A:p.Q450K;ENSG00000170579:ENST00000315677:exon6:c.C1348A:p.Q450K;ENSG00000170579:ENST00000400149:exon3:c.C472A:p.Q158K;ENSG00000170579:ENST00000400155:exon3:c.C466A:p.Q156K;ENSG00000170579:ENST00000581527:exon6:c.C1348A:p.Q450K;ENSG00000170579:ENST00000400150:exon3:c.C466A:p.Q156K;ENSG00000170579:ENST00000534970:exon3:c.C484A:p.Q162K;	0.943362590294896	0.7
18	3742511	T	A	18	3742511	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.A1174T:p.I392F;DLGAP1:NM_001242766:exon3:c.A268T:p.I90F;DLGAP1:NM_001003809:exon3:c.A268T:p.I90F;DLGAP1:NM_001242762:exon3:c.A310T:p.I104F;DLGAP1:NM_001242763:exon3:c.A310T:p.I104F;DLGAP1:NM_001242765:exon3:c.A268T:p.I90F;DLGAP1:NM_004746:exon6:c.A1174T:p.I392F;DLGAP1:NM_001242764:exon3:c.A292T:p.I98F;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A268T:p.I90F;ENSG00000170579:ENST00000515196:exon5:c.A1174T:p.I392F;ENSG00000170579:ENST00000581699:exon3:c.A292T:p.I98F;ENSG00000170579:ENST00000400145:exon3:c.A268T:p.I90F;ENSG00000170579:ENST00000400147:exon3:c.A268T:p.I90F;ENSG00000170579:ENST00000584874:exon3:c.A1174T:p.I392F;ENSG00000170579:ENST00000315677:exon6:c.A1174T:p.I392F;ENSG00000170579:ENST00000400149:exon3:c.A298T:p.I100F;ENSG00000170579:ENST00000400155:exon3:c.A292T:p.I98F;ENSG00000170579:ENST00000581527:exon6:c.A1174T:p.I392F;ENSG00000170579:ENST00000400150:exon3:c.A292T:p.I98F;ENSG00000170579:ENST00000534970:exon3:c.A310T:p.I104F;	0.00281303325549571	0.036
18	3742511	T	C	18	3742511	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.A1174G:p.I392V;DLGAP1:NM_001242766:exon3:c.A268G:p.I90V;DLGAP1:NM_001003809:exon3:c.A268G:p.I90V;DLGAP1:NM_001242762:exon3:c.A310G:p.I104V;DLGAP1:NM_001242763:exon3:c.A310G:p.I104V;DLGAP1:NM_001242765:exon3:c.A268G:p.I90V;DLGAP1:NM_004746:exon6:c.A1174G:p.I392V;DLGAP1:NM_001242764:exon3:c.A292G:p.I98V;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A268G:p.I90V;ENSG00000170579:ENST00000515196:exon5:c.A1174G:p.I392V;ENSG00000170579:ENST00000581699:exon3:c.A292G:p.I98V;ENSG00000170579:ENST00000400145:exon3:c.A268G:p.I90V;ENSG00000170579:ENST00000400147:exon3:c.A268G:p.I90V;ENSG00000170579:ENST00000584874:exon3:c.A1174G:p.I392V;ENSG00000170579:ENST00000315677:exon6:c.A1174G:p.I392V;ENSG00000170579:ENST00000400149:exon3:c.A298G:p.I100V;ENSG00000170579:ENST00000400155:exon3:c.A292G:p.I98V;ENSG00000170579:ENST00000581527:exon6:c.A1174G:p.I392V;ENSG00000170579:ENST00000400150:exon3:c.A292G:p.I98V;ENSG00000170579:ENST00000534970:exon3:c.A310G:p.I104V;	0.00560177601451643	0.036
18	3742511	T	G	18	3742511	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.A1174C:p.I392L;DLGAP1:NM_001242766:exon3:c.A268C:p.I90L;DLGAP1:NM_001003809:exon3:c.A268C:p.I90L;DLGAP1:NM_001242762:exon3:c.A310C:p.I104L;DLGAP1:NM_001242763:exon3:c.A310C:p.I104L;DLGAP1:NM_001242765:exon3:c.A268C:p.I90L;DLGAP1:NM_004746:exon6:c.A1174C:p.I392L;DLGAP1:NM_001242764:exon3:c.A292C:p.I98L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A268C:p.I90L;ENSG00000170579:ENST00000515196:exon5:c.A1174C:p.I392L;ENSG00000170579:ENST00000581699:exon3:c.A292C:p.I98L;ENSG00000170579:ENST00000400145:exon3:c.A268C:p.I90L;ENSG00000170579:ENST00000400147:exon3:c.A268C:p.I90L;ENSG00000170579:ENST00000584874:exon3:c.A1174C:p.I392L;ENSG00000170579:ENST00000315677:exon6:c.A1174C:p.I392L;ENSG00000170579:ENST00000400149:exon3:c.A298C:p.I100L;ENSG00000170579:ENST00000400155:exon3:c.A292C:p.I98L;ENSG00000170579:ENST00000581527:exon6:c.A1174C:p.I392L;ENSG00000170579:ENST00000400150:exon3:c.A292C:p.I98L;ENSG00000170579:ENST00000534970:exon3:c.A310C:p.I104L;	0.00327545672636961	0.07
18	3742512	T	A	18	3742512	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.A1173T:p.K391N;DLGAP1:NM_001242766:exon3:c.A267T:p.K89N;DLGAP1:NM_001003809:exon3:c.A267T:p.K89N;DLGAP1:NM_001242762:exon3:c.A309T:p.K103N;DLGAP1:NM_001242763:exon3:c.A309T:p.K103N;DLGAP1:NM_001242765:exon3:c.A267T:p.K89N;DLGAP1:NM_004746:exon6:c.A1173T:p.K391N;DLGAP1:NM_001242764:exon3:c.A291T:p.K97N;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A267T:p.K89N;ENSG00000170579:ENST00000515196:exon5:c.A1173T:p.K391N;ENSG00000170579:ENST00000581699:exon3:c.A291T:p.K97N;ENSG00000170579:ENST00000400145:exon3:c.A267T:p.K89N;ENSG00000170579:ENST00000400147:exon3:c.A267T:p.K89N;ENSG00000170579:ENST00000584874:exon3:c.A1173T:p.K391N;ENSG00000170579:ENST00000315677:exon6:c.A1173T:p.K391N;ENSG00000170579:ENST00000400149:exon3:c.A297T:p.K99N;ENSG00000170579:ENST00000400155:exon3:c.A291T:p.K97N;ENSG00000170579:ENST00000581527:exon6:c.A1173T:p.K391N;ENSG00000170579:ENST00000400150:exon3:c.A291T:p.K97N;ENSG00000170579:ENST00000534970:exon3:c.A309T:p.K103N;	7.67151181353217E-4	0.048
18	3742512	T	C	18	3742512	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon6:c.A1173G:p.K391K;DLGAP1:NM_001242766:exon3:c.A267G:p.K89K;DLGAP1:NM_001003809:exon3:c.A267G:p.K89K;DLGAP1:NM_001242762:exon3:c.A309G:p.K103K;DLGAP1:NM_001242763:exon3:c.A309G:p.K103K;DLGAP1:NM_001242765:exon3:c.A267G:p.K89K;DLGAP1:NM_004746:exon6:c.A1173G:p.K391K;DLGAP1:NM_001242764:exon3:c.A291G:p.K97K;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A267G:p.K89K;ENSG00000170579:ENST00000515196:exon5:c.A1173G:p.K391K;ENSG00000170579:ENST00000581699:exon3:c.A291G:p.K97K;ENSG00000170579:ENST00000400145:exon3:c.A267G:p.K89K;ENSG00000170579:ENST00000400147:exon3:c.A267G:p.K89K;ENSG00000170579:ENST00000584874:exon3:c.A1173G:p.K391K;ENSG00000170579:ENST00000315677:exon6:c.A1173G:p.K391K;ENSG00000170579:ENST00000400149:exon3:c.A297G:p.K99K;ENSG00000170579:ENST00000400155:exon3:c.A291G:p.K97K;ENSG00000170579:ENST00000581527:exon6:c.A1173G:p.K391K;ENSG00000170579:ENST00000400150:exon3:c.A291G:p.K97K;ENSG00000170579:ENST00000534970:exon3:c.A309G:p.K103K;	2.0291873933743E-5	0.0
18	3742512	T	G	18	3742512	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon6:c.A1173C:p.K391N;DLGAP1:NM_001242766:exon3:c.A267C:p.K89N;DLGAP1:NM_001003809:exon3:c.A267C:p.K89N;DLGAP1:NM_001242762:exon3:c.A309C:p.K103N;DLGAP1:NM_001242763:exon3:c.A309C:p.K103N;DLGAP1:NM_001242765:exon3:c.A267C:p.K89N;DLGAP1:NM_004746:exon6:c.A1173C:p.K391N;DLGAP1:NM_001242764:exon3:c.A291C:p.K97N;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon3:c.A267C:p.K89N;ENSG00000170579:ENST00000515196:exon5:c.A1173C:p.K391N;ENSG00000170579:ENST00000581699:exon3:c.A291C:p.K97N;ENSG00000170579:ENST00000400145:exon3:c.A267C:p.K89N;ENSG00000170579:ENST00000400147:exon3:c.A267C:p.K89N;ENSG00000170579:ENST00000584874:exon3:c.A1173C:p.K391N;ENSG00000170579:ENST00000315677:exon6:c.A1173C:p.K391N;ENSG00000170579:ENST00000400149:exon3:c.A297C:p.K99N;ENSG00000170579:ENST00000400155:exon3:c.A291C:p.K97N;ENSG00000170579:ENST00000581527:exon6:c.A1173C:p.K391N;ENSG00000170579:ENST00000400150:exon3:c.A291C:p.K97N;ENSG00000170579:ENST00000534970:exon3:c.A309C:p.K103N;	3.69751176378535E-4	0.134
18	3742513	C	A	18	3742513	y	y	splicing	DLGAP1(NM_004746:exon7:c.1173-1G>T;NM_001242766:exon4:c.267-1G>T;NM_001242764:exon4:c.291-1G>T;NM_001242763:exon4:c.309-1G>T;NM_001242762:exon4:c.309-1G>T;NM_001003809:exon4:c.267-1G>T;NM_001242765:exon4:c.267-1G>T;NM_001242761:exon7:c.1173-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1173-1G>T;ENST00000400150:exon4:c.291-1G>T;ENST00000400155:exon4:c.291-1G>T;ENST00000400149:exon4:c.297-1G>T;ENST00000400147:exon4:c.267-1G>T;ENST00000584874:exon4:c.1173-1G>T;ENST00000534970:exon4:c.309-1G>T;ENST00000539435:exon4:c.267-1G>T;ENST00000581699:exon4:c.291-1G>T;ENST00000400145:exon4:c.267-1G>T;ENST00000515196:exon6:c.1173-1G>T;ENST00000581527:exon7:c.1173-1G>T)	.	.	0.999985250677267	0.752
18	3742513	C	G	18	3742513	y	y	splicing	DLGAP1(NM_004746:exon7:c.1173-1G>C;NM_001242766:exon4:c.267-1G>C;NM_001242764:exon4:c.291-1G>C;NM_001242763:exon4:c.309-1G>C;NM_001242762:exon4:c.309-1G>C;NM_001003809:exon4:c.267-1G>C;NM_001242765:exon4:c.267-1G>C;NM_001242761:exon7:c.1173-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1173-1G>C;ENST00000400150:exon4:c.291-1G>C;ENST00000400155:exon4:c.291-1G>C;ENST00000400149:exon4:c.297-1G>C;ENST00000400147:exon4:c.267-1G>C;ENST00000584874:exon4:c.1173-1G>C;ENST00000534970:exon4:c.309-1G>C;ENST00000539435:exon4:c.267-1G>C;ENST00000581699:exon4:c.291-1G>C;ENST00000400145:exon4:c.267-1G>C;ENST00000515196:exon6:c.1173-1G>C;ENST00000581527:exon7:c.1173-1G>C)	.	.	0.999971745822287	0.766
18	3742513	C	T	18	3742513	y	y	splicing	DLGAP1(NM_004746:exon7:c.1173-1G>A;NM_001242766:exon4:c.267-1G>A;NM_001242764:exon4:c.291-1G>A;NM_001242763:exon4:c.309-1G>A;NM_001242762:exon4:c.309-1G>A;NM_001003809:exon4:c.267-1G>A;NM_001242765:exon4:c.267-1G>A;NM_001242761:exon7:c.1173-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1173-1G>A;ENST00000400150:exon4:c.291-1G>A;ENST00000400155:exon4:c.291-1G>A;ENST00000400149:exon4:c.297-1G>A;ENST00000400147:exon4:c.267-1G>A;ENST00000584874:exon4:c.1173-1G>A;ENST00000534970:exon4:c.309-1G>A;ENST00000539435:exon4:c.267-1G>A;ENST00000581699:exon4:c.291-1G>A;ENST00000400145:exon4:c.267-1G>A;ENST00000515196:exon6:c.1173-1G>A;ENST00000581527:exon7:c.1173-1G>A)	.	.	0.999981332798982	0.746
18	3742514	T	A	18	3742514	y	y	splicing	DLGAP1(NM_004746:exon7:c.1173-2A>T;NM_001242766:exon4:c.267-2A>T;NM_001242764:exon4:c.291-2A>T;NM_001242763:exon4:c.309-2A>T;NM_001242762:exon4:c.309-2A>T;NM_001003809:exon4:c.267-2A>T;NM_001242765:exon4:c.267-2A>T;NM_001242761:exon7:c.1173-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1173-2A>T;ENST00000400150:exon4:c.291-2A>T;ENST00000400155:exon4:c.291-2A>T;ENST00000400149:exon4:c.297-2A>T;ENST00000400147:exon4:c.267-2A>T;ENST00000584874:exon4:c.1173-2A>T;ENST00000534970:exon4:c.309-2A>T;ENST00000539435:exon4:c.267-2A>T;ENST00000581699:exon4:c.291-2A>T;ENST00000400145:exon4:c.267-2A>T;ENST00000515196:exon6:c.1173-2A>T;ENST00000581527:exon7:c.1173-2A>T)	.	.	0.999942364277254	0.776
18	3742514	T	C	18	3742514	y	y	splicing	DLGAP1(NM_004746:exon7:c.1173-2A>G;NM_001242766:exon4:c.267-2A>G;NM_001242764:exon4:c.291-2A>G;NM_001242763:exon4:c.309-2A>G;NM_001242762:exon4:c.309-2A>G;NM_001003809:exon4:c.267-2A>G;NM_001242765:exon4:c.267-2A>G;NM_001242761:exon7:c.1173-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1173-2A>G;ENST00000400150:exon4:c.291-2A>G;ENST00000400155:exon4:c.291-2A>G;ENST00000400149:exon4:c.297-2A>G;ENST00000400147:exon4:c.267-2A>G;ENST00000584874:exon4:c.1173-2A>G;ENST00000534970:exon4:c.309-2A>G;ENST00000539435:exon4:c.267-2A>G;ENST00000581699:exon4:c.291-2A>G;ENST00000400145:exon4:c.267-2A>G;ENST00000515196:exon6:c.1173-2A>G;ENST00000581527:exon7:c.1173-2A>G)	.	.	0.999952513967755	0.782
18	3742514	T	G	18	3742514	y	y	splicing	DLGAP1(NM_004746:exon7:c.1173-2A>C;NM_001242766:exon4:c.267-2A>C;NM_001242764:exon4:c.291-2A>C;NM_001242763:exon4:c.309-2A>C;NM_001242762:exon4:c.309-2A>C;NM_001003809:exon4:c.267-2A>C;NM_001242765:exon4:c.267-2A>C;NM_001242761:exon7:c.1173-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon7:c.1173-2A>C;ENST00000400150:exon4:c.291-2A>C;ENST00000400155:exon4:c.291-2A>C;ENST00000400149:exon4:c.297-2A>C;ENST00000400147:exon4:c.267-2A>C;ENST00000584874:exon4:c.1173-2A>C;ENST00000534970:exon4:c.309-2A>C;ENST00000539435:exon4:c.267-2A>C;ENST00000581699:exon4:c.291-2A>C;ENST00000400145:exon4:c.267-2A>C;ENST00000515196:exon6:c.1173-2A>C;ENST00000581527:exon7:c.1173-2A>C)	.	.	0.999952513967755	0.782
18	3742515	G	A	18	3742515	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.2369305497856E-4	0.04
18	3742515	G	C	18	3742515	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.997246959275176	0.898
18	3742515	G	T	18	3742515	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.862629918239836	0.666
18	3742516	G	A	18	3742516	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.8536512923266E-5	0.002
18	3742516	G	C	18	3742516	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.59903539122689E-5	0.0
18	3742516	G	T	18	3742516	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.64466451587752E-5	0.002
18	3742517	A	C	18	3742517	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00906412900122765	0.292
18	3742517	A	G	18	3742517	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00461620263281388	0.13
18	3742517	A	T	18	3742517	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.011158433749858	0.268
18	3742518	A	C	18	3742518	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.68354908768953E-4	0.076
18	3742518	A	G	18	3742518	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.77501466745487E-5	0.016
18	3742518	A	T	18	3742518	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.1720338896958E-5	0.052
18	3742519	G	A	18	3742519	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.65836719086696E-5	0.014
18	3742519	G	C	18	3742519	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00103604720228924	0.062
18	3742519	G	T	18	3742519	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00137926754052075	0.046
18	3742520	G	A	18	3742520	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.4126935992033E-5	0.0
18	3742520	G	C	18	3742520	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.16823836737538E-5	0.026
18	3742520	G	T	18	3742520	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.77866698253478E-5	0.024
18	3742521	G	A	18	3742521	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.30539803102847E-5	0.004
18	3742521	G	C	18	3742521	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.44424583976107E-4	0.114
18	3742521	G	T	18	3742521	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.8755660090998E-4	0.112
18	3742522	A	C	18	3742522	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0227531209980745	0.22
18	3742522	A	G	18	3742522	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00138110586823571	0.06
18	3742522	A	T	18	3742522	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00295148152656332	0.246
18	3742523	A	C	18	3742523	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00463690482570952	0.164
18	3742523	A	G	18	3742523	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00146589629452781	0.062
18	3742523	A	T	18	3742523	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00132061017440717	0.16
18	3742524	C	A	18	3742524	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.07304228424496E-5	0.016
18	3742524	C	G	18	3742524	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.13227978773835E-6	0.018
18	3742524	C	T	18	3742524	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.85584372613208E-5	0.038
18	3814051	C	A	18	3814051	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.57966391631852E-5	0.0
18	3814051	C	G	18	3814051	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.57966391631852E-5	0.0
18	3814051	C	T	18	3814051	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.36436759347404E-5	0.004
18	3814052	T	A	18	3814052	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.45433103085318E-4	0.0
18	3814052	T	C	18	3814052	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.34289013388094E-5	0.0
18	3814052	T	G	18	3814052	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.75274067003406E-5	0.0
18	3814053	A	C	18	3814053	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.720376848131326	0.624
18	3814053	A	G	18	3814053	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.688342993282322	0.588
18	3814053	A	T	18	3814053	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.98266263271381	0.702
18	3814054	C	A	18	3814054	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999987700010041	0.966
18	3814054	C	G	18	3814054	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999965277921026	0.932
18	3814054	C	T	18	3814054	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999968997873173	0.96
18	3814055	T	A	18	3814055	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.995919775648924	0.884
18	3814055	T	C	18	3814055	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.994747441597265	0.706
18	3814055	T	G	18	3814055	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.935866996837738	0.668
18	3814056	C	A	18	3814056	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.499451503441287	0.438
18	3814056	C	G	18	3814056	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.651474021718383	0.516
18	3814056	C	T	18	3814056	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.83996792521659E-5	0.004
18	3814057	A	C	18	3814057	y	y	splicing	DLGAP1(NM_004746:exon6:c.1172+2T>G;NM_001242766:exon3:c.266+2T>G;NM_001242764:exon3:c.290+2T>G;NM_001242763:exon3:c.308+2T>G;NM_001242762:exon3:c.308+2T>G;NM_001003809:exon3:c.266+2T>G;NM_001242765:exon3:c.266+2T>G;NM_001242761:exon6:c.1172+2T>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.1172+2T>G;ENST00000400150:exon3:c.290+2T>G;ENST00000400155:exon3:c.290+2T>G;ENST00000400149:exon3:c.296+2T>G;ENST00000400147:exon3:c.266+2T>G;ENST00000584874:exon3:c.1172+2T>G;ENST00000534970:exon3:c.308+2T>G;ENST00000539435:exon3:c.266+2T>G;ENST00000581699:exon3:c.290+2T>G;ENST00000400145:exon3:c.266+2T>G;ENST00000515196:exon5:c.1172+2T>G;ENST00000581527:exon6:c.1172+2T>G)	.	.	0.999988247793601	0.93
18	3814057	A	G	18	3814057	y	y	splicing	DLGAP1(NM_004746:exon6:c.1172+2T>C;NM_001242766:exon3:c.266+2T>C;NM_001242764:exon3:c.290+2T>C;NM_001242763:exon3:c.308+2T>C;NM_001242762:exon3:c.308+2T>C;NM_001003809:exon3:c.266+2T>C;NM_001242765:exon3:c.266+2T>C;NM_001242761:exon6:c.1172+2T>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.1172+2T>C;ENST00000400150:exon3:c.290+2T>C;ENST00000400155:exon3:c.290+2T>C;ENST00000400149:exon3:c.296+2T>C;ENST00000400147:exon3:c.266+2T>C;ENST00000584874:exon3:c.1172+2T>C;ENST00000534970:exon3:c.308+2T>C;ENST00000539435:exon3:c.266+2T>C;ENST00000581699:exon3:c.290+2T>C;ENST00000400145:exon3:c.266+2T>C;ENST00000515196:exon5:c.1172+2T>C;ENST00000581527:exon6:c.1172+2T>C)	.	.	0.999929727175276	0.866
18	3814057	A	T	18	3814057	y	y	splicing	DLGAP1(NM_004746:exon6:c.1172+2T>A;NM_001242766:exon3:c.266+2T>A;NM_001242764:exon3:c.290+2T>A;NM_001242763:exon3:c.308+2T>A;NM_001242762:exon3:c.308+2T>A;NM_001003809:exon3:c.266+2T>A;NM_001242765:exon3:c.266+2T>A;NM_001242761:exon6:c.1172+2T>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.1172+2T>A;ENST00000400150:exon3:c.290+2T>A;ENST00000400155:exon3:c.290+2T>A;ENST00000400149:exon3:c.296+2T>A;ENST00000400147:exon3:c.266+2T>A;ENST00000584874:exon3:c.1172+2T>A;ENST00000534970:exon3:c.308+2T>A;ENST00000539435:exon3:c.266+2T>A;ENST00000581699:exon3:c.290+2T>A;ENST00000400145:exon3:c.266+2T>A;ENST00000515196:exon5:c.1172+2T>A;ENST00000581527:exon6:c.1172+2T>A)	.	.	0.999988247793601	0.93
18	3814058	C	A	18	3814058	y	y	splicing	DLGAP1(NM_004746:exon6:c.1172+1G>T;NM_001242766:exon3:c.266+1G>T;NM_001242764:exon3:c.290+1G>T;NM_001242763:exon3:c.308+1G>T;NM_001242762:exon3:c.308+1G>T;NM_001003809:exon3:c.266+1G>T;NM_001242765:exon3:c.266+1G>T;NM_001242761:exon6:c.1172+1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.1172+1G>T;ENST00000400150:exon3:c.290+1G>T;ENST00000400155:exon3:c.290+1G>T;ENST00000400149:exon3:c.296+1G>T;ENST00000400147:exon3:c.266+1G>T;ENST00000584874:exon3:c.1172+1G>T;ENST00000534970:exon3:c.308+1G>T;ENST00000539435:exon3:c.266+1G>T;ENST00000581699:exon3:c.290+1G>T;ENST00000400145:exon3:c.266+1G>T;ENST00000515196:exon5:c.1172+1G>T;ENST00000581527:exon6:c.1172+1G>T)	.	.	0.999990361384395	0.938
18	3814058	C	G	18	3814058	y	y	splicing	DLGAP1(NM_004746:exon6:c.1172+1G>C;NM_001242766:exon3:c.266+1G>C;NM_001242764:exon3:c.290+1G>C;NM_001242763:exon3:c.308+1G>C;NM_001242762:exon3:c.308+1G>C;NM_001003809:exon3:c.266+1G>C;NM_001242765:exon3:c.266+1G>C;NM_001242761:exon6:c.1172+1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.1172+1G>C;ENST00000400150:exon3:c.290+1G>C;ENST00000400155:exon3:c.290+1G>C;ENST00000400149:exon3:c.296+1G>C;ENST00000400147:exon3:c.266+1G>C;ENST00000584874:exon3:c.1172+1G>C;ENST00000534970:exon3:c.308+1G>C;ENST00000539435:exon3:c.266+1G>C;ENST00000581699:exon3:c.290+1G>C;ENST00000400145:exon3:c.266+1G>C;ENST00000515196:exon5:c.1172+1G>C;ENST00000581527:exon6:c.1172+1G>C)	.	.	0.999990361384395	0.938
18	3814058	C	T	18	3814058	y	y	splicing	DLGAP1(NM_004746:exon6:c.1172+1G>A;NM_001242766:exon3:c.266+1G>A;NM_001242764:exon3:c.290+1G>A;NM_001242763:exon3:c.308+1G>A;NM_001242762:exon3:c.308+1G>A;NM_001003809:exon3:c.266+1G>A;NM_001242765:exon3:c.266+1G>A;NM_001242761:exon6:c.1172+1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.1172+1G>A;ENST00000400150:exon3:c.290+1G>A;ENST00000400155:exon3:c.290+1G>A;ENST00000400149:exon3:c.296+1G>A;ENST00000400147:exon3:c.266+1G>A;ENST00000584874:exon3:c.1172+1G>A;ENST00000534970:exon3:c.308+1G>A;ENST00000539435:exon3:c.266+1G>A;ENST00000581699:exon3:c.290+1G>A;ENST00000400145:exon3:c.266+1G>A;ENST00000515196:exon5:c.1172+1G>A;ENST00000581527:exon6:c.1172+1G>A)	.	.	0.999990361384395	0.938
18	3814059	T	A	18	3814059	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.A1172T:p.K391I;DLGAP1:NM_001242766:exon2:c.A266T:p.K89I;DLGAP1:NM_001003809:exon2:c.A266T:p.K89I;DLGAP1:NM_001242762:exon2:c.A308T:p.K103I;DLGAP1:NM_001242763:exon2:c.A308T:p.K103I;DLGAP1:NM_001242765:exon2:c.A266T:p.K89I;DLGAP1:NM_004746:exon5:c.A1172T:p.K391I;DLGAP1:NM_001242764:exon2:c.A290T:p.K97I;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.A266T:p.K89I;ENSG00000170579:ENST00000515196:exon4:c.A1172T:p.K391I;ENSG00000170579:ENST00000581699:exon2:c.A290T:p.K97I;ENSG00000170579:ENST00000400145:exon2:c.A266T:p.K89I;ENSG00000170579:ENST00000400147:exon2:c.A266T:p.K89I;ENSG00000170579:ENST00000584874:exon2:c.A1172T:p.K391I;ENSG00000170579:ENST00000315677:exon5:c.A1172T:p.K391I;ENSG00000170579:ENST00000400149:exon2:c.A296T:p.K99I;ENSG00000170579:ENST00000400155:exon2:c.A290T:p.K97I;ENSG00000170579:ENST00000581527:exon5:c.A1172T:p.K391I;ENSG00000170579:ENST00000400150:exon2:c.A290T:p.K97I;ENSG00000170579:ENST00000534970:exon2:c.A308T:p.K103I;	0.892893285662056	0.634
18	3814059	T	C	18	3814059	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.A1172G:p.K391R;DLGAP1:NM_001242766:exon2:c.A266G:p.K89R;DLGAP1:NM_001003809:exon2:c.A266G:p.K89R;DLGAP1:NM_001242762:exon2:c.A308G:p.K103R;DLGAP1:NM_001242763:exon2:c.A308G:p.K103R;DLGAP1:NM_001242765:exon2:c.A266G:p.K89R;DLGAP1:NM_004746:exon5:c.A1172G:p.K391R;DLGAP1:NM_001242764:exon2:c.A290G:p.K97R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.A266G:p.K89R;ENSG00000170579:ENST00000515196:exon4:c.A1172G:p.K391R;ENSG00000170579:ENST00000581699:exon2:c.A290G:p.K97R;ENSG00000170579:ENST00000400145:exon2:c.A266G:p.K89R;ENSG00000170579:ENST00000400147:exon2:c.A266G:p.K89R;ENSG00000170579:ENST00000584874:exon2:c.A1172G:p.K391R;ENSG00000170579:ENST00000315677:exon5:c.A1172G:p.K391R;ENSG00000170579:ENST00000400149:exon2:c.A296G:p.K99R;ENSG00000170579:ENST00000400155:exon2:c.A290G:p.K97R;ENSG00000170579:ENST00000581527:exon5:c.A1172G:p.K391R;ENSG00000170579:ENST00000400150:exon2:c.A290G:p.K97R;ENSG00000170579:ENST00000534970:exon2:c.A308G:p.K103R;	5.53134976301722E-4	0.042
18	3814059	T	G	18	3814059	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.A1172C:p.K391T;DLGAP1:NM_001242766:exon2:c.A266C:p.K89T;DLGAP1:NM_001003809:exon2:c.A266C:p.K89T;DLGAP1:NM_001242762:exon2:c.A308C:p.K103T;DLGAP1:NM_001242763:exon2:c.A308C:p.K103T;DLGAP1:NM_001242765:exon2:c.A266C:p.K89T;DLGAP1:NM_004746:exon5:c.A1172C:p.K391T;DLGAP1:NM_001242764:exon2:c.A290C:p.K97T;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.A266C:p.K89T;ENSG00000170579:ENST00000515196:exon4:c.A1172C:p.K391T;ENSG00000170579:ENST00000581699:exon2:c.A290C:p.K97T;ENSG00000170579:ENST00000400145:exon2:c.A266C:p.K89T;ENSG00000170579:ENST00000400147:exon2:c.A266C:p.K89T;ENSG00000170579:ENST00000584874:exon2:c.A1172C:p.K391T;ENSG00000170579:ENST00000315677:exon5:c.A1172C:p.K391T;ENSG00000170579:ENST00000400149:exon2:c.A296C:p.K99T;ENSG00000170579:ENST00000400155:exon2:c.A290C:p.K97T;ENSG00000170579:ENST00000581527:exon5:c.A1172C:p.K391T;ENSG00000170579:ENST00000400150:exon2:c.A290C:p.K97T;ENSG00000170579:ENST00000534970:exon2:c.A308C:p.K103T;	0.385794042118543	0.73
18	3814060	T	A	18	3814060	y	y	exonic	DLGAP1	stopgain SNV	DLGAP1:NM_001242761:exon5:c.A1171T:p.K391X;DLGAP1:NM_001242766:exon2:c.A265T:p.K89X;DLGAP1:NM_001003809:exon2:c.A265T:p.K89X;DLGAP1:NM_001242762:exon2:c.A307T:p.K103X;DLGAP1:NM_001242763:exon2:c.A307T:p.K103X;DLGAP1:NM_001242765:exon2:c.A265T:p.K89X;DLGAP1:NM_004746:exon5:c.A1171T:p.K391X;DLGAP1:NM_001242764:exon2:c.A289T:p.K97X;	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000539435:exon2:c.A265T:p.K89X;ENSG00000170579:ENST00000515196:exon4:c.A1171T:p.K391X;ENSG00000170579:ENST00000581699:exon2:c.A289T:p.K97X;ENSG00000170579:ENST00000400145:exon2:c.A265T:p.K89X;ENSG00000170579:ENST00000400147:exon2:c.A265T:p.K89X;ENSG00000170579:ENST00000584874:exon2:c.A1171T:p.K391X;ENSG00000170579:ENST00000315677:exon5:c.A1171T:p.K391X;ENSG00000170579:ENST00000400149:exon2:c.A295T:p.K99X;ENSG00000170579:ENST00000400155:exon2:c.A289T:p.K97X;ENSG00000170579:ENST00000581527:exon5:c.A1171T:p.K391X;ENSG00000170579:ENST00000400150:exon2:c.A289T:p.K97X;ENSG00000170579:ENST00000534970:exon2:c.A307T:p.K103X;	0.999694346333248	0.976
18	3814060	T	C	18	3814060	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.A1171G:p.K391E;DLGAP1:NM_001242766:exon2:c.A265G:p.K89E;DLGAP1:NM_001003809:exon2:c.A265G:p.K89E;DLGAP1:NM_001242762:exon2:c.A307G:p.K103E;DLGAP1:NM_001242763:exon2:c.A307G:p.K103E;DLGAP1:NM_001242765:exon2:c.A265G:p.K89E;DLGAP1:NM_004746:exon5:c.A1171G:p.K391E;DLGAP1:NM_001242764:exon2:c.A289G:p.K97E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.A265G:p.K89E;ENSG00000170579:ENST00000515196:exon4:c.A1171G:p.K391E;ENSG00000170579:ENST00000581699:exon2:c.A289G:p.K97E;ENSG00000170579:ENST00000400145:exon2:c.A265G:p.K89E;ENSG00000170579:ENST00000400147:exon2:c.A265G:p.K89E;ENSG00000170579:ENST00000584874:exon2:c.A1171G:p.K391E;ENSG00000170579:ENST00000315677:exon5:c.A1171G:p.K391E;ENSG00000170579:ENST00000400149:exon2:c.A295G:p.K99E;ENSG00000170579:ENST00000400155:exon2:c.A289G:p.K97E;ENSG00000170579:ENST00000581527:exon5:c.A1171G:p.K391E;ENSG00000170579:ENST00000400150:exon2:c.A289G:p.K97E;ENSG00000170579:ENST00000534970:exon2:c.A307G:p.K103E;	0.989191679443646	0.942
18	3814060	T	G	18	3814060	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.A1171C:p.K391Q;DLGAP1:NM_001242766:exon2:c.A265C:p.K89Q;DLGAP1:NM_001003809:exon2:c.A265C:p.K89Q;DLGAP1:NM_001242762:exon2:c.A307C:p.K103Q;DLGAP1:NM_001242763:exon2:c.A307C:p.K103Q;DLGAP1:NM_001242765:exon2:c.A265C:p.K89Q;DLGAP1:NM_004746:exon5:c.A1171C:p.K391Q;DLGAP1:NM_001242764:exon2:c.A289C:p.K97Q;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.A265C:p.K89Q;ENSG00000170579:ENST00000515196:exon4:c.A1171C:p.K391Q;ENSG00000170579:ENST00000581699:exon2:c.A289C:p.K97Q;ENSG00000170579:ENST00000400145:exon2:c.A265C:p.K89Q;ENSG00000170579:ENST00000400147:exon2:c.A265C:p.K89Q;ENSG00000170579:ENST00000584874:exon2:c.A1171C:p.K391Q;ENSG00000170579:ENST00000315677:exon5:c.A1171C:p.K391Q;ENSG00000170579:ENST00000400149:exon2:c.A295C:p.K99Q;ENSG00000170579:ENST00000400155:exon2:c.A289C:p.K97Q;ENSG00000170579:ENST00000581527:exon5:c.A1171C:p.K391Q;ENSG00000170579:ENST00000400150:exon2:c.A289C:p.K97Q;ENSG00000170579:ENST00000534970:exon2:c.A307C:p.K103Q;	0.986723258743544	0.89
18	3814061	G	A	18	3814061	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon5:c.C1170T:p.L390L;DLGAP1:NM_001242766:exon2:c.C264T:p.L88L;DLGAP1:NM_001003809:exon2:c.C264T:p.L88L;DLGAP1:NM_001242762:exon2:c.C306T:p.L102L;DLGAP1:NM_001242763:exon2:c.C306T:p.L102L;DLGAP1:NM_001242765:exon2:c.C264T:p.L88L;DLGAP1:NM_004746:exon5:c.C1170T:p.L390L;DLGAP1:NM_001242764:exon2:c.C288T:p.L96L;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.C264T:p.L88L;ENSG00000170579:ENST00000515196:exon4:c.C1170T:p.L390L;ENSG00000170579:ENST00000581699:exon2:c.C288T:p.L96L;ENSG00000170579:ENST00000400145:exon2:c.C264T:p.L88L;ENSG00000170579:ENST00000400147:exon2:c.C264T:p.L88L;ENSG00000170579:ENST00000584874:exon2:c.C1170T:p.L390L;ENSG00000170579:ENST00000315677:exon5:c.C1170T:p.L390L;ENSG00000170579:ENST00000400149:exon2:c.C294T:p.L98L;ENSG00000170579:ENST00000400155:exon2:c.C288T:p.L96L;ENSG00000170579:ENST00000581527:exon5:c.C1170T:p.L390L;ENSG00000170579:ENST00000400150:exon2:c.C288T:p.L96L;ENSG00000170579:ENST00000534970:exon2:c.C306T:p.L102L;	0.998452387428059	0.87
18	3814061	G	C	18	3814061	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon5:c.C1170G:p.L390L;DLGAP1:NM_001242766:exon2:c.C264G:p.L88L;DLGAP1:NM_001003809:exon2:c.C264G:p.L88L;DLGAP1:NM_001242762:exon2:c.C306G:p.L102L;DLGAP1:NM_001242763:exon2:c.C306G:p.L102L;DLGAP1:NM_001242765:exon2:c.C264G:p.L88L;DLGAP1:NM_004746:exon5:c.C1170G:p.L390L;DLGAP1:NM_001242764:exon2:c.C288G:p.L96L;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.C264G:p.L88L;ENSG00000170579:ENST00000515196:exon4:c.C1170G:p.L390L;ENSG00000170579:ENST00000581699:exon2:c.C288G:p.L96L;ENSG00000170579:ENST00000400145:exon2:c.C264G:p.L88L;ENSG00000170579:ENST00000400147:exon2:c.C264G:p.L88L;ENSG00000170579:ENST00000584874:exon2:c.C1170G:p.L390L;ENSG00000170579:ENST00000315677:exon5:c.C1170G:p.L390L;ENSG00000170579:ENST00000400149:exon2:c.C294G:p.L98L;ENSG00000170579:ENST00000400155:exon2:c.C288G:p.L96L;ENSG00000170579:ENST00000581527:exon5:c.C1170G:p.L390L;ENSG00000170579:ENST00000400150:exon2:c.C288G:p.L96L;ENSG00000170579:ENST00000534970:exon2:c.C306G:p.L102L;	0.958657343944647	0.602
18	3814061	G	T	18	3814061	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon5:c.C1170A:p.L390L;DLGAP1:NM_001242766:exon2:c.C264A:p.L88L;DLGAP1:NM_001003809:exon2:c.C264A:p.L88L;DLGAP1:NM_001242762:exon2:c.C306A:p.L102L;DLGAP1:NM_001242763:exon2:c.C306A:p.L102L;DLGAP1:NM_001242765:exon2:c.C264A:p.L88L;DLGAP1:NM_004746:exon5:c.C1170A:p.L390L;DLGAP1:NM_001242764:exon2:c.C288A:p.L96L;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.C264A:p.L88L;ENSG00000170579:ENST00000515196:exon4:c.C1170A:p.L390L;ENSG00000170579:ENST00000581699:exon2:c.C288A:p.L96L;ENSG00000170579:ENST00000400145:exon2:c.C264A:p.L88L;ENSG00000170579:ENST00000400147:exon2:c.C264A:p.L88L;ENSG00000170579:ENST00000584874:exon2:c.C1170A:p.L390L;ENSG00000170579:ENST00000315677:exon5:c.C1170A:p.L390L;ENSG00000170579:ENST00000400149:exon2:c.C294A:p.L98L;ENSG00000170579:ENST00000400155:exon2:c.C288A:p.L96L;ENSG00000170579:ENST00000581527:exon5:c.C1170A:p.L390L;ENSG00000170579:ENST00000400150:exon2:c.C288A:p.L96L;ENSG00000170579:ENST00000534970:exon2:c.C306A:p.L102L;	0.938967980092713	0.674
18	3814272	A	C	18	3814272	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.T959G:p.V320G;DLGAP1:NM_001242766:exon2:c.T53G:p.V18G;DLGAP1:NM_001003809:exon2:c.T53G:p.V18G;DLGAP1:NM_001242762:exon2:c.T95G:p.V32G;DLGAP1:NM_001242763:exon2:c.T95G:p.V32G;DLGAP1:NM_001242765:exon2:c.T53G:p.V18G;DLGAP1:NM_004746:exon5:c.T959G:p.V320G;DLGAP1:NM_001242764:exon2:c.T77G:p.V26G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.T53G:p.V18G;ENSG00000170579:ENST00000515196:exon4:c.T959G:p.V320G;ENSG00000170579:ENST00000581699:exon2:c.T77G:p.V26G;ENSG00000170579:ENST00000400145:exon2:c.T53G:p.V18G;ENSG00000170579:ENST00000400147:exon2:c.T53G:p.V18G;ENSG00000170579:ENST00000584874:exon2:c.T959G:p.V320G;ENSG00000170579:ENST00000315677:exon5:c.T959G:p.V320G;ENSG00000170579:ENST00000400149:exon2:c.T83G:p.V28G;ENSG00000170579:ENST00000400155:exon2:c.T77G:p.V26G;ENSG00000170579:ENST00000581527:exon5:c.T959G:p.V320G;ENSG00000170579:ENST00000400150:exon2:c.T77G:p.V26G;ENSG00000170579:ENST00000534970:exon2:c.T95G:p.V32G;	0.738414600882142	0.41
18	3814272	A	G	18	3814272	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.T959C:p.V320A;DLGAP1:NM_001242766:exon2:c.T53C:p.V18A;DLGAP1:NM_001003809:exon2:c.T53C:p.V18A;DLGAP1:NM_001242762:exon2:c.T95C:p.V32A;DLGAP1:NM_001242763:exon2:c.T95C:p.V32A;DLGAP1:NM_001242765:exon2:c.T53C:p.V18A;DLGAP1:NM_004746:exon5:c.T959C:p.V320A;DLGAP1:NM_001242764:exon2:c.T77C:p.V26A;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.T53C:p.V18A;ENSG00000170579:ENST00000515196:exon4:c.T959C:p.V320A;ENSG00000170579:ENST00000581699:exon2:c.T77C:p.V26A;ENSG00000170579:ENST00000400145:exon2:c.T53C:p.V18A;ENSG00000170579:ENST00000400147:exon2:c.T53C:p.V18A;ENSG00000170579:ENST00000584874:exon2:c.T959C:p.V320A;ENSG00000170579:ENST00000315677:exon5:c.T959C:p.V320A;ENSG00000170579:ENST00000400149:exon2:c.T83C:p.V28A;ENSG00000170579:ENST00000400155:exon2:c.T77C:p.V26A;ENSG00000170579:ENST00000581527:exon5:c.T959C:p.V320A;ENSG00000170579:ENST00000400150:exon2:c.T77C:p.V26A;ENSG00000170579:ENST00000534970:exon2:c.T95C:p.V32A;	0.782059113471238	0.576
18	3814272	A	T	18	3814272	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.T959A:p.V320D;DLGAP1:NM_001242766:exon2:c.T53A:p.V18D;DLGAP1:NM_001003809:exon2:c.T53A:p.V18D;DLGAP1:NM_001242762:exon2:c.T95A:p.V32D;DLGAP1:NM_001242763:exon2:c.T95A:p.V32D;DLGAP1:NM_001242765:exon2:c.T53A:p.V18D;DLGAP1:NM_004746:exon5:c.T959A:p.V320D;DLGAP1:NM_001242764:exon2:c.T77A:p.V26D;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.T53A:p.V18D;ENSG00000170579:ENST00000515196:exon4:c.T959A:p.V320D;ENSG00000170579:ENST00000581699:exon2:c.T77A:p.V26D;ENSG00000170579:ENST00000400145:exon2:c.T53A:p.V18D;ENSG00000170579:ENST00000400147:exon2:c.T53A:p.V18D;ENSG00000170579:ENST00000584874:exon2:c.T959A:p.V320D;ENSG00000170579:ENST00000315677:exon5:c.T959A:p.V320D;ENSG00000170579:ENST00000400149:exon2:c.T83A:p.V28D;ENSG00000170579:ENST00000400155:exon2:c.T77A:p.V26D;ENSG00000170579:ENST00000581527:exon5:c.T959A:p.V320D;ENSG00000170579:ENST00000400150:exon2:c.T77A:p.V26D;ENSG00000170579:ENST00000534970:exon2:c.T95A:p.V32D;	0.840209937821402	0.578
18	3814273	C	A	18	3814273	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.G958T:p.V320F;DLGAP1:NM_001242766:exon2:c.G52T:p.V18F;DLGAP1:NM_001003809:exon2:c.G52T:p.V18F;DLGAP1:NM_001242762:exon2:c.G94T:p.V32F;DLGAP1:NM_001242763:exon2:c.G94T:p.V32F;DLGAP1:NM_001242765:exon2:c.G52T:p.V18F;DLGAP1:NM_004746:exon5:c.G958T:p.V320F;DLGAP1:NM_001242764:exon2:c.G76T:p.V26F;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.G52T:p.V18F;ENSG00000170579:ENST00000515196:exon4:c.G958T:p.V320F;ENSG00000170579:ENST00000581699:exon2:c.G76T:p.V26F;ENSG00000170579:ENST00000400145:exon2:c.G52T:p.V18F;ENSG00000170579:ENST00000400147:exon2:c.G52T:p.V18F;ENSG00000170579:ENST00000584874:exon2:c.G958T:p.V320F;ENSG00000170579:ENST00000315677:exon5:c.G958T:p.V320F;ENSG00000170579:ENST00000400149:exon2:c.G82T:p.V28F;ENSG00000170579:ENST00000400155:exon2:c.G76T:p.V26F;ENSG00000170579:ENST00000581527:exon5:c.G958T:p.V320F;ENSG00000170579:ENST00000400150:exon2:c.G76T:p.V26F;ENSG00000170579:ENST00000534970:exon2:c.G94T:p.V32F;	0.999929324368598	0.996
18	3814273	C	G	18	3814273	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.G958C:p.V320L;DLGAP1:NM_001242766:exon2:c.G52C:p.V18L;DLGAP1:NM_001003809:exon2:c.G52C:p.V18L;DLGAP1:NM_001242762:exon2:c.G94C:p.V32L;DLGAP1:NM_001242763:exon2:c.G94C:p.V32L;DLGAP1:NM_001242765:exon2:c.G52C:p.V18L;DLGAP1:NM_004746:exon5:c.G958C:p.V320L;DLGAP1:NM_001242764:exon2:c.G76C:p.V26L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.G52C:p.V18L;ENSG00000170579:ENST00000515196:exon4:c.G958C:p.V320L;ENSG00000170579:ENST00000581699:exon2:c.G76C:p.V26L;ENSG00000170579:ENST00000400145:exon2:c.G52C:p.V18L;ENSG00000170579:ENST00000400147:exon2:c.G52C:p.V18L;ENSG00000170579:ENST00000584874:exon2:c.G958C:p.V320L;ENSG00000170579:ENST00000315677:exon5:c.G958C:p.V320L;ENSG00000170579:ENST00000400149:exon2:c.G82C:p.V28L;ENSG00000170579:ENST00000400155:exon2:c.G76C:p.V26L;ENSG00000170579:ENST00000581527:exon5:c.G958C:p.V320L;ENSG00000170579:ENST00000400150:exon2:c.G76C:p.V26L;ENSG00000170579:ENST00000534970:exon2:c.G94C:p.V32L;	0.999900689233081	0.982
18	3814273	C	T	18	3814273	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon5:c.G958A:p.V320I;DLGAP1:NM_001242766:exon2:c.G52A:p.V18I;DLGAP1:NM_001003809:exon2:c.G52A:p.V18I;DLGAP1:NM_001242762:exon2:c.G94A:p.V32I;DLGAP1:NM_001242763:exon2:c.G94A:p.V32I;DLGAP1:NM_001242765:exon2:c.G52A:p.V18I;DLGAP1:NM_004746:exon5:c.G958A:p.V320I;DLGAP1:NM_001242764:exon2:c.G76A:p.V26I;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon2:c.G52A:p.V18I;ENSG00000170579:ENST00000515196:exon4:c.G958A:p.V320I;ENSG00000170579:ENST00000581699:exon2:c.G76A:p.V26I;ENSG00000170579:ENST00000400145:exon2:c.G52A:p.V18I;ENSG00000170579:ENST00000400147:exon2:c.G52A:p.V18I;ENSG00000170579:ENST00000584874:exon2:c.G958A:p.V320I;ENSG00000170579:ENST00000315677:exon5:c.G958A:p.V320I;ENSG00000170579:ENST00000400149:exon2:c.G82A:p.V28I;ENSG00000170579:ENST00000400155:exon2:c.G76A:p.V26I;ENSG00000170579:ENST00000581527:exon5:c.G958A:p.V320I;ENSG00000170579:ENST00000400150:exon2:c.G76A:p.V26I;ENSG00000170579:ENST00000534970:exon2:c.G94A:p.V32I;	0.999477436512148	0.976
18	3814274	C	A	18	3814274	y	y	splicing	DLGAP1(NM_004746:exon6:c.958-1G>T;NM_001242766:exon3:c.52-1G>T;NM_001242764:exon3:c.76-1G>T;NM_001242763:exon3:c.94-1G>T;NM_001242762:exon3:c.94-1G>T;NM_001003809:exon3:c.52-1G>T;NM_001242765:exon3:c.52-1G>T;NM_001242761:exon6:c.958-1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.958-1G>T;ENST00000400150:exon3:c.76-1G>T;ENST00000400155:exon3:c.76-1G>T;ENST00000400149:exon3:c.82-1G>T;ENST00000400147:exon3:c.52-1G>T;ENST00000584874:exon3:c.958-1G>T;ENST00000534970:exon3:c.94-1G>T;ENST00000539435:exon3:c.52-1G>T;ENST00000581699:exon3:c.76-1G>T;ENST00000400145:exon3:c.52-1G>T;ENST00000515196:exon5:c.958-1G>T;ENST00000581527:exon6:c.958-1G>T)	.	.	0.999990361384395	0.938
18	3814274	C	G	18	3814274	y	y	splicing	DLGAP1(NM_004746:exon6:c.958-1G>C;NM_001242766:exon3:c.52-1G>C;NM_001242764:exon3:c.76-1G>C;NM_001242763:exon3:c.94-1G>C;NM_001242762:exon3:c.94-1G>C;NM_001003809:exon3:c.52-1G>C;NM_001242765:exon3:c.52-1G>C;NM_001242761:exon6:c.958-1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.958-1G>C;ENST00000400150:exon3:c.76-1G>C;ENST00000400155:exon3:c.76-1G>C;ENST00000400149:exon3:c.82-1G>C;ENST00000400147:exon3:c.52-1G>C;ENST00000584874:exon3:c.958-1G>C;ENST00000534970:exon3:c.94-1G>C;ENST00000539435:exon3:c.52-1G>C;ENST00000581699:exon3:c.76-1G>C;ENST00000400145:exon3:c.52-1G>C;ENST00000515196:exon5:c.958-1G>C;ENST00000581527:exon6:c.958-1G>C)	.	.	0.999990361384395	0.936
18	3814274	C	T	18	3814274	y	y	splicing	DLGAP1(NM_004746:exon6:c.958-1G>A;NM_001242766:exon3:c.52-1G>A;NM_001242764:exon3:c.76-1G>A;NM_001242763:exon3:c.94-1G>A;NM_001242762:exon3:c.94-1G>A;NM_001003809:exon3:c.52-1G>A;NM_001242765:exon3:c.52-1G>A;NM_001242761:exon6:c.958-1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.958-1G>A;ENST00000400150:exon3:c.76-1G>A;ENST00000400155:exon3:c.76-1G>A;ENST00000400149:exon3:c.82-1G>A;ENST00000400147:exon3:c.52-1G>A;ENST00000584874:exon3:c.958-1G>A;ENST00000534970:exon3:c.94-1G>A;ENST00000539435:exon3:c.52-1G>A;ENST00000581699:exon3:c.76-1G>A;ENST00000400145:exon3:c.52-1G>A;ENST00000515196:exon5:c.958-1G>A;ENST00000581527:exon6:c.958-1G>A)	.	.	0.999990361384395	0.938
18	3814275	T	A	18	3814275	y	y	splicing	DLGAP1(NM_004746:exon6:c.958-2A>T;NM_001242766:exon3:c.52-2A>T;NM_001242764:exon3:c.76-2A>T;NM_001242763:exon3:c.94-2A>T;NM_001242762:exon3:c.94-2A>T;NM_001003809:exon3:c.52-2A>T;NM_001242765:exon3:c.52-2A>T;NM_001242761:exon6:c.958-2A>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.958-2A>T;ENST00000400150:exon3:c.76-2A>T;ENST00000400155:exon3:c.76-2A>T;ENST00000400149:exon3:c.82-2A>T;ENST00000400147:exon3:c.52-2A>T;ENST00000584874:exon3:c.958-2A>T;ENST00000534970:exon3:c.94-2A>T;ENST00000539435:exon3:c.52-2A>T;ENST00000581699:exon3:c.76-2A>T;ENST00000400145:exon3:c.52-2A>T;ENST00000515196:exon5:c.958-2A>T;ENST00000581527:exon6:c.958-2A>T)	.	.	0.999988247793601	0.926
18	3814275	T	C	18	3814275	y	y	splicing	DLGAP1(NM_004746:exon6:c.958-2A>G;NM_001242766:exon3:c.52-2A>G;NM_001242764:exon3:c.76-2A>G;NM_001242763:exon3:c.94-2A>G;NM_001242762:exon3:c.94-2A>G;NM_001003809:exon3:c.52-2A>G;NM_001242765:exon3:c.52-2A>G;NM_001242761:exon6:c.958-2A>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.958-2A>G;ENST00000400150:exon3:c.76-2A>G;ENST00000400155:exon3:c.76-2A>G;ENST00000400149:exon3:c.82-2A>G;ENST00000400147:exon3:c.52-2A>G;ENST00000584874:exon3:c.958-2A>G;ENST00000534970:exon3:c.94-2A>G;ENST00000539435:exon3:c.52-2A>G;ENST00000581699:exon3:c.76-2A>G;ENST00000400145:exon3:c.52-2A>G;ENST00000515196:exon5:c.958-2A>G;ENST00000581527:exon6:c.958-2A>G)	.	.	0.999988247793601	0.93
18	3814275	T	G	18	3814275	y	y	splicing	DLGAP1(NM_004746:exon6:c.958-2A>C;NM_001242766:exon3:c.52-2A>C;NM_001242764:exon3:c.76-2A>C;NM_001242763:exon3:c.94-2A>C;NM_001242762:exon3:c.94-2A>C;NM_001003809:exon3:c.52-2A>C;NM_001242765:exon3:c.52-2A>C;NM_001242761:exon6:c.958-2A>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon6:c.958-2A>C;ENST00000400150:exon3:c.76-2A>C;ENST00000400155:exon3:c.76-2A>C;ENST00000400149:exon3:c.82-2A>C;ENST00000400147:exon3:c.52-2A>C;ENST00000584874:exon3:c.958-2A>C;ENST00000534970:exon3:c.94-2A>C;ENST00000539435:exon3:c.52-2A>C;ENST00000581699:exon3:c.76-2A>C;ENST00000400145:exon3:c.52-2A>C;ENST00000515196:exon5:c.958-2A>C;ENST00000581527:exon6:c.958-2A>C)	.	.	0.999988247793601	0.93
18	3814276	A	C	18	3814276	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.997554016898662	0.728
18	3814276	A	G	18	3814276	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	6.86269710795215E-5	0.02
18	3814276	A	T	18	3814276	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00729114756289953	0.22
18	3814277	T	A	18	3814277	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.99790357516325E-5	0.01
18	3814277	T	C	18	3814277	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.970398437183891	0.668
18	3814277	T	G	18	3814277	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	9.00856845007178E-5	0.01
18	3814278	T	A	18	3814278	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	7.0478985200725E-5	0.04
18	3814278	T	C	18	3814278	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.55239535524956E-5	0.006
18	3814278	T	G	18	3814278	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.06499316870789E-5	0.0
18	3814279	C	A	18	3814279	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.70912139970461E-4	0.014
18	3814279	C	G	18	3814279	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.50379652360767E-4	0.002
18	3814279	C	T	18	3814279	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.3958910195572E-5	0.0
18	3814280	A	C	18	3814280	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.144416500378773	0.358
18	3814280	A	G	18	3814280	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.08702712968875E-4	0.018
18	3814280	A	T	18	3814280	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999660745836417	0.98
18	3814281	G	A	18	3814281	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.97575539667583E-5	0.0
18	3814281	G	C	18	3814281	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0189157969820787	0.102
18	3814281	G	T	18	3814281	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0337445191679943	0.144
18	3814282	A	C	18	3814282	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.999881132554853	0.988
18	3814282	A	G	18	3814282	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00493779219900082	0.028
18	3814282	A	T	18	3814282	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.102978979642516	0.414
18	3814283	T	A	18	3814283	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	5.33256212363744E-5	0.008
18	3814283	T	C	18	3814283	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	3.40663947518376E-5	0.0
18	3814283	T	G	18	3814283	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.58444154919003E-5	0.0
18	3814284	A	C	18	3814284	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.396379563254937	0.526
18	3814284	A	G	18	3814284	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00314699027774094	0.27
18	3814284	A	T	18	3814284	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.515909586624545	0.622
18	3814285	G	A	18	3814285	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.50164550468251E-5	0.0
18	3814285	G	C	18	3814285	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.60102300954231E-5	0.018
18	3814285	G	T	18	3814285	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	4.40989786908099E-5	0.01
18	3845224	T	A	18	3845224	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.09562936375766E-4	0.016
18	3845224	T	C	18	3845224	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.09562936375766E-4	0.006
18	3845224	T	G	18	3845224	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.09562936375766E-4	0.004
18	3845225	A	C	18	3845225	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00115128744468825	0.0
18	3845225	A	G	18	3845225	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00115128744468825	0.0
18	3845225	A	T	18	3845225	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00115128744468825	0.0
18	3845226	G	A	18	3845226	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.32278132178443E-4	0.01
18	3845226	G	C	18	3845226	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.09913527278822E-4	0.014
18	3845226	G	T	18	3845226	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	2.07730186270307E-4	0.014
18	3845227	C	A	18	3845227	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.565534940030959	0.352
18	3845227	C	G	18	3845227	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.12897932023966	0.256
18	3845227	C	T	18	3845227	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.761229237580339	0.582
18	3845228	T	A	18	3845228	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.290391052611781	0.43
18	3845228	T	C	18	3845228	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.131659432208589	0.384
18	3845228	T	G	18	3845228	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.131659432208589	0.388
18	3845229	T	A	18	3845229	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.290391052611781	0.434
18	3845229	T	C	18	3845229	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.131659432208589	0.452
18	3845229	T	G	18	3845229	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.131659432208589	0.452
18	3845230	A	C	18	3845230	y	y	splicing	DLGAP1(NM_001242766:exon2:c.51+2T>G;NM_001003809:exon2:c.51+2T>G;NM_001242765:exon2:c.51+2T>G)	.	.	splicing	ENSG00000170579(ENST00000400147:exon2:c.51+2T>G;ENST00000539435:exon2:c.51+2T>G;ENST00000400145:exon2:c.51+2T>G)	.	.	0.872510682387867	0.678
18	3845230	A	G	18	3845230	y	y	splicing	DLGAP1(NM_001242766:exon2:c.51+2T>C;NM_001003809:exon2:c.51+2T>C;NM_001242765:exon2:c.51+2T>C)	.	.	splicing	ENSG00000170579(ENST00000400147:exon2:c.51+2T>C;ENST00000539435:exon2:c.51+2T>C;ENST00000400145:exon2:c.51+2T>C)	.	.	0.872510682387867	0.678
18	3845230	A	T	18	3845230	y	y	splicing	DLGAP1(NM_001242766:exon2:c.51+2T>A;NM_001003809:exon2:c.51+2T>A;NM_001242765:exon2:c.51+2T>A)	.	.	splicing	ENSG00000170579(ENST00000400147:exon2:c.51+2T>A;ENST00000539435:exon2:c.51+2T>A;ENST00000400145:exon2:c.51+2T>A)	.	.	0.872510682387867	0.668
18	3845231	C	A	18	3845231	y	y	splicing	DLGAP1(NM_001242766:exon2:c.51+1G>T;NM_001003809:exon2:c.51+1G>T;NM_001242765:exon2:c.51+1G>T)	.	.	splicing	ENSG00000170579(ENST00000400147:exon2:c.51+1G>T;ENST00000539435:exon2:c.51+1G>T;ENST00000400145:exon2:c.51+1G>T)	.	.	0.992474646220614	0.872
18	3845231	C	G	18	3845231	y	y	splicing	DLGAP1(NM_001242766:exon2:c.51+1G>C;NM_001003809:exon2:c.51+1G>C;NM_001242765:exon2:c.51+1G>C)	.	.	splicing	ENSG00000170579(ENST00000400147:exon2:c.51+1G>C;ENST00000539435:exon2:c.51+1G>C;ENST00000400145:exon2:c.51+1G>C)	.	.	0.992474646220614	0.882
18	3845231	C	T	18	3845231	y	y	splicing	DLGAP1(NM_001242766:exon2:c.51+1G>A;NM_001003809:exon2:c.51+1G>A;NM_001242765:exon2:c.51+1G>A)	.	.	splicing	ENSG00000170579(ENST00000400147:exon2:c.51+1G>A;ENST00000539435:exon2:c.51+1G>A;ENST00000400145:exon2:c.51+1G>A)	.	.	0.992474646220614	0.872
18	3845232	C	A	18	3845232	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon1:c.G51T:p.K17N;DLGAP1:NM_001003809:exon1:c.G51T:p.K17N;DLGAP1:NM_001242765:exon1:c.G51T:p.K17N;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon1:c.G51T:p.K17N;ENSG00000170579:ENST00000400145:exon1:c.G51T:p.K17N;ENSG00000170579:ENST00000400147:exon1:c.G51T:p.K17N;	0.991172541478441	0.87
18	3845232	C	G	18	3845232	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon1:c.G51C:p.K17N;DLGAP1:NM_001003809:exon1:c.G51C:p.K17N;DLGAP1:NM_001242765:exon1:c.G51C:p.K17N;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon1:c.G51C:p.K17N;ENSG00000170579:ENST00000400145:exon1:c.G51C:p.K17N;ENSG00000170579:ENST00000400147:exon1:c.G51C:p.K17N;	0.983394749551851	0.874
18	3845232	C	T	18	3845232	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242766:exon1:c.G51A:p.K17K;DLGAP1:NM_001003809:exon1:c.G51A:p.K17K;DLGAP1:NM_001242765:exon1:c.G51A:p.K17K;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000539435:exon1:c.G51A:p.K17K;ENSG00000170579:ENST00000400145:exon1:c.G51A:p.K17K;ENSG00000170579:ENST00000400147:exon1:c.G51A:p.K17K;	0.953078543516208	0.746
18	3845233	T	A	18	3845233	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon1:c.A50T:p.K17M;DLGAP1:NM_001003809:exon1:c.A50T:p.K17M;DLGAP1:NM_001242765:exon1:c.A50T:p.K17M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon1:c.A50T:p.K17M;ENSG00000170579:ENST00000400145:exon1:c.A50T:p.K17M;ENSG00000170579:ENST00000400147:exon1:c.A50T:p.K17M;	0.819798009297564	0.646
18	3845233	T	C	18	3845233	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon1:c.A50G:p.K17R;DLGAP1:NM_001003809:exon1:c.A50G:p.K17R;DLGAP1:NM_001242765:exon1:c.A50G:p.K17R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon1:c.A50G:p.K17R;ENSG00000170579:ENST00000400145:exon1:c.A50G:p.K17R;ENSG00000170579:ENST00000400147:exon1:c.A50G:p.K17R;	0.819798009297564	0.646
18	3845233	T	G	18	3845233	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon1:c.A50C:p.K17T;DLGAP1:NM_001003809:exon1:c.A50C:p.K17T;DLGAP1:NM_001242765:exon1:c.A50C:p.K17T;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon1:c.A50C:p.K17T;ENSG00000170579:ENST00000400145:exon1:c.A50C:p.K17T;ENSG00000170579:ENST00000400147:exon1:c.A50C:p.K17T;	0.484371472515556	0.574
18	3845234	T	A	18	3845234	y	y	exonic	DLGAP1	stopgain SNV	DLGAP1:NM_001242766:exon1:c.A49T:p.K17X;DLGAP1:NM_001003809:exon1:c.A49T:p.K17X;DLGAP1:NM_001242765:exon1:c.A49T:p.K17X;	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000539435:exon1:c.A49T:p.K17X;ENSG00000170579:ENST00000400145:exon1:c.A49T:p.K17X;ENSG00000170579:ENST00000400147:exon1:c.A49T:p.K17X;	0.914932079583211	0.806
18	3845234	T	C	18	3845234	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon1:c.A49G:p.K17E;DLGAP1:NM_001003809:exon1:c.A49G:p.K17E;DLGAP1:NM_001242765:exon1:c.A49G:p.K17E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon1:c.A49G:p.K17E;ENSG00000170579:ENST00000400145:exon1:c.A49G:p.K17E;ENSG00000170579:ENST00000400147:exon1:c.A49G:p.K17E;	0.839201422950923	0.648
18	3845234	T	G	18	3845234	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242766:exon1:c.A49C:p.K17Q;DLGAP1:NM_001003809:exon1:c.A49C:p.K17Q;DLGAP1:NM_001242765:exon1:c.A49C:p.K17Q;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000539435:exon1:c.A49C:p.K17Q;ENSG00000170579:ENST00000400145:exon1:c.A49C:p.K17Q;ENSG00000170579:ENST00000400147:exon1:c.A49C:p.K17Q;	0.00113219605340017	0.016
18	3874140	A	C	18	3874140	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.43190807654434E-4	0.006
18	3874140	A	G	18	3874140	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.43190807654434E-4	0.006
18	3874140	A	T	18	3874140	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.96723790606719E-4	0.006
18	3874141	G	A	18	3874141	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.2331471065878E-4	0.0
18	3874141	G	C	18	3874141	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.35462544897784E-4	0.004
18	3874141	G	T	18	3874141	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.35462544897784E-4	0.002
18	3874142	T	A	18	3874142	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0322623974503667	0.152
18	3874142	T	C	18	3874142	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0173493336427258	0.088
18	3874142	T	G	18	3874142	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0173493336427258	0.088
18	3874143	T	A	18	3874143	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00464429886053217	0.024
18	3874143	T	C	18	3874143	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00455550459124179	0.018
18	3874143	T	G	18	3874143	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00455550459124179	0.018
18	3874144	A	C	18	3874144	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.15928322694241E-4	0.002
18	3874144	A	G	18	3874144	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.15928322694241E-4	0.002
18	3874144	A	T	18	3874144	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	1.46226529156369E-4	0.002
18	3874145	T	A	18	3874145	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00795678801987447	0.026
18	3874145	T	C	18	3874145	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00464429886053217	0.028
18	3874145	T	G	18	3874145	n	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00464429886053217	0.03
18	3874146	A	C	18	3874146	y	y	intronic	DLGAP1	.	.	splicing	ENSG00000170579(ENST00000400149:exon2:c.81+2T>G)	.	.	2.44958268314859E-4	0.008
18	3874146	A	G	18	3874146	y	y	intronic	DLGAP1	.	.	splicing	ENSG00000170579(ENST00000400149:exon2:c.81+2T>C)	.	.	2.44958268314859E-4	0.008
18	3874146	A	T	18	3874146	y	y	intronic	DLGAP1	.	.	splicing	ENSG00000170579(ENST00000400149:exon2:c.81+2T>A)	.	.	2.44958268314859E-4	0.008
18	3874147	C	A	18	3874147	y	y	intronic	DLGAP1	.	.	splicing	ENSG00000170579(ENST00000400149:exon2:c.81+1G>T)	.	.	0.614678475782145	0.596
18	3874147	C	G	18	3874147	y	y	intronic	DLGAP1	.	.	splicing	ENSG00000170579(ENST00000400149:exon2:c.81+1G>C)	.	.	0.614678475782145	0.474
18	3874147	C	T	18	3874147	y	y	intronic	DLGAP1	.	.	splicing	ENSG00000170579(ENST00000400149:exon2:c.81+1G>A)	.	.	0.83426184748694	0.574
18	3874148	C	A	18	3874148	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.G81T:p.W27C;	8.8551835119743E-4	0.012
18	3874148	C	G	18	3874148	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.G81C:p.W27C;	8.8551835119743E-4	0.012
18	3874148	C	T	18	3874148	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000400149:exon1:c.G81A:p.W27X;	0.083174638174529	0.414
18	3874149	C	A	18	3874149	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.G80T:p.W27L;	0.00918874967650165	0.016
18	3874149	C	G	18	3874149	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.G80C:p.W27S;	0.00219807730330773	0.024
18	3874149	C	T	18	3874149	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000400149:exon1:c.G80A:p.W27X;	0.99061661475246	0.946
18	3874150	A	C	18	3874150	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T79G:p.W27G;	0.00175778128518139	0.016
18	3874150	A	G	18	3874150	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T79C:p.W27R;	8.44319604211537E-4	0.036
18	3874150	A	T	18	3874150	y	y	intronic	DLGAP1	.	.	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T79A:p.W27R;	8.44319604211537E-4	0.108
18	3874151	A	C	18	3874151	y	n	intronic	DLGAP1	.	.	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T78G:p.V26V;	1.61924194981173E-4	0.012
18	3874151	A	G	18	3874151	y	n	intronic	DLGAP1	.	.	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T78C:p.V26V;	1.63626172479922E-4	0.014
18	3874151	A	T	18	3874151	y	n	intronic	DLGAP1	.	.	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T78A:p.V26V;	1.25132360502514E-4	0.0
18	3874152	A	C	18	3874152	y	n	splicing	DLGAP1(NM_001242764:exon2:c.75+2T>G)	.	.	exonic;splicing	ENSG00000170579;ENSG00000170579(ENST00000400150:exon2:c.75+2T>G;ENST00000400155:exon2:c.75+2T>G;ENST00000581699:exon2:c.75+2T>G)	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T77G:p.V26G;	0.71359222184599	0.762
18	3874152	A	G	18	3874152	y	n	splicing	DLGAP1(NM_001242764:exon2:c.75+2T>C)	.	.	exonic;splicing	ENSG00000170579;ENSG00000170579(ENST00000400150:exon2:c.75+2T>C;ENST00000400155:exon2:c.75+2T>C;ENST00000581699:exon2:c.75+2T>C)	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T77C:p.V26A;	0.71359222184599	0.764
18	3874152	A	T	18	3874152	y	n	splicing	DLGAP1(NM_001242764:exon2:c.75+2T>A)	.	.	exonic;splicing	ENSG00000170579;ENSG00000170579(ENST00000400150:exon2:c.75+2T>A;ENST00000400155:exon2:c.75+2T>A;ENST00000581699:exon2:c.75+2T>A)	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.T77A:p.V26D;	0.73520146084848	0.73
18	3874153	C	A	18	3874153	y	n	splicing	DLGAP1(NM_001242764:exon2:c.75+1G>T)	.	.	exonic;splicing	ENSG00000170579;ENSG00000170579(ENST00000400150:exon2:c.75+1G>T;ENST00000400155:exon2:c.75+1G>T;ENST00000581699:exon2:c.75+1G>T)	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.G76T:p.V26F;	0.93683688836216	0.752
18	3874153	C	G	18	3874153	y	n	splicing	DLGAP1(NM_001242764:exon2:c.75+1G>C)	.	.	exonic;splicing	ENSG00000170579;ENSG00000170579(ENST00000400150:exon2:c.75+1G>C;ENST00000400155:exon2:c.75+1G>C;ENST00000581699:exon2:c.75+1G>C)	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.G76C:p.V26L;	0.910423173226029	0.69
18	3874153	C	T	18	3874153	y	n	splicing	DLGAP1(NM_001242764:exon2:c.75+1G>A)	.	.	exonic;splicing	ENSG00000170579;ENSG00000170579(ENST00000400150:exon2:c.75+1G>A;ENST00000400155:exon2:c.75+1G>A;ENST00000581699:exon2:c.75+1G>A)	nonsynonymous SNV	ENSG00000170579:ENST00000400149:exon1:c.G76A:p.V26I;	0.973381913389386	0.828
18	3874154	C	A	18	3874154	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242764:exon1:c.G75T:p.Q25H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000581699:exon1:c.G75T:p.Q25H;ENSG00000170579:ENST00000400149:exon1:c.G75T:p.Q25H;ENSG00000170579:ENST00000400155:exon1:c.G75T:p.Q25H;ENSG00000170579:ENST00000400150:exon1:c.G75T:p.Q25H;	0.00918874967650165	0.02
18	3874154	C	G	18	3874154	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242764:exon1:c.G75C:p.Q25H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000581699:exon1:c.G75C:p.Q25H;ENSG00000170579:ENST00000400149:exon1:c.G75C:p.Q25H;ENSG00000170579:ENST00000400155:exon1:c.G75C:p.Q25H;ENSG00000170579:ENST00000400150:exon1:c.G75C:p.Q25H;	0.00918874967650165	0.022
18	3874154	C	T	18	3874154	y	n	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242764:exon1:c.G75A:p.Q25Q;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000581699:exon1:c.G75A:p.Q25Q;ENSG00000170579:ENST00000400149:exon1:c.G75A:p.Q25Q;ENSG00000170579:ENST00000400155:exon1:c.G75A:p.Q25Q;ENSG00000170579:ENST00000400150:exon1:c.G75A:p.Q25Q;	0.0175136530047368	0.028
18	3874155	T	A	18	3874155	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242764:exon1:c.A74T:p.Q25L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000581699:exon1:c.A74T:p.Q25L;ENSG00000170579:ENST00000400149:exon1:c.A74T:p.Q25L;ENSG00000170579:ENST00000400155:exon1:c.A74T:p.Q25L;ENSG00000170579:ENST00000400150:exon1:c.A74T:p.Q25L;	0.0322623974503667	0.152
18	3874155	T	C	18	3874155	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242764:exon1:c.A74G:p.Q25R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000581699:exon1:c.A74G:p.Q25R;ENSG00000170579:ENST00000400149:exon1:c.A74G:p.Q25R;ENSG00000170579:ENST00000400155:exon1:c.A74G:p.Q25R;ENSG00000170579:ENST00000400150:exon1:c.A74G:p.Q25R;	0.00455550459124179	0.016
18	3874155	T	G	18	3874155	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242764:exon1:c.A74C:p.Q25P;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000581699:exon1:c.A74C:p.Q25P;ENSG00000170579:ENST00000400149:exon1:c.A74C:p.Q25P;ENSG00000170579:ENST00000400155:exon1:c.A74C:p.Q25P;ENSG00000170579:ENST00000400150:exon1:c.A74C:p.Q25P;	0.00829003674465697	0.026
18	3874156	G	A	18	3874156	y	n	exonic	DLGAP1	stopgain SNV	DLGAP1:NM_001242764:exon1:c.C73T:p.Q25X;	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000581699:exon1:c.C73T:p.Q25X;ENSG00000170579:ENST00000400149:exon1:c.C73T:p.Q25X;ENSG00000170579:ENST00000400155:exon1:c.C73T:p.Q25X;ENSG00000170579:ENST00000400150:exon1:c.C73T:p.Q25X;	0.99061661475246	0.946
18	3874156	G	C	18	3874156	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242764:exon1:c.C73G:p.Q25E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000581699:exon1:c.C73G:p.Q25E;ENSG00000170579:ENST00000400149:exon1:c.C73G:p.Q25E;ENSG00000170579:ENST00000400155:exon1:c.C73G:p.Q25E;ENSG00000170579:ENST00000400150:exon1:c.C73G:p.Q25E;	0.00918874967650165	0.022
18	3874156	G	T	18	3874156	y	n	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242764:exon1:c.C73A:p.Q25K;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000581699:exon1:c.C73A:p.Q25K;ENSG00000170579:ENST00000400149:exon1:c.C73A:p.Q25K;ENSG00000170579:ENST00000400155:exon1:c.C73A:p.Q25K;ENSG00000170579:ENST00000400150:exon1:c.C73A:p.Q25K;	0.00918874967650165	0.022
18	3874606	G	A	18	3874606	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.8551835119743E-4	0.02
18	3874606	G	C	18	3874606	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.8551835119743E-4	0.026
18	3874606	G	T	18	3874606	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	8.8551835119743E-4	0.008
18	3874607	C	A	18	3874607	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0113015223762388	0.028
18	3874607	C	G	18	3874607	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0101189792044043	0.02
18	3874607	C	T	18	3874607	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0113015223762388	0.032
18	3874608	A	C	18	3874608	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0128024590054188	0.032
18	3874608	A	G	18	3874608	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0128024590054188	0.032
18	3874608	A	T	18	3874608	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0173493336427258	0.086
18	3874609	C	A	18	3874609	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00945269749865717	0.042
18	3874609	C	G	18	3874609	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00945269749865717	0.034
18	3874609	C	T	18	3874609	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.0161391101266291	0.034
18	3874610	T	A	18	3874610	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00689508868792027	0.024
18	3874610	T	C	18	3874610	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00464429886053217	0.024
18	3874610	T	G	18	3874610	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00464429886053217	0.024
18	3874611	T	A	18	3874611	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00829003674465697	0.024
18	3874611	T	C	18	3874611	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00689508868792027	0.024
18	3874611	T	G	18	3874611	y	y	intronic	DLGAP1	.	.	intronic	ENSG00000170579	.	.	0.00689508868792027	0.024
18	3874612	A	C	18	3874612	y	y	splicing	DLGAP1(NM_001242763:exon2:c.93+2T>G;NM_001242762:exon2:c.93+2T>G)	.	.	splicing	ENSG00000170579(ENST00000534970:exon2:c.93+2T>G)	.	.	0.502624535581599	0.694
18	3874612	A	G	18	3874612	y	y	splicing	DLGAP1(NM_001242763:exon2:c.93+2T>C;NM_001242762:exon2:c.93+2T>C)	.	.	splicing	ENSG00000170579(ENST00000534970:exon2:c.93+2T>C)	.	.	0.502624535581599	0.67
18	3874612	A	T	18	3874612	y	y	splicing	DLGAP1(NM_001242763:exon2:c.93+2T>A;NM_001242762:exon2:c.93+2T>A)	.	.	splicing	ENSG00000170579(ENST00000534970:exon2:c.93+2T>A)	.	.	0.668762154854872	0.71
18	3874613	C	A	18	3874613	y	y	splicing	DLGAP1(NM_001242763:exon2:c.93+1G>T;NM_001242762:exon2:c.93+1G>T)	.	.	splicing	ENSG00000170579(ENST00000534970:exon2:c.93+1G>T)	.	.	0.96462550940396	0.824
18	3874613	C	G	18	3874613	y	y	splicing	DLGAP1(NM_001242763:exon2:c.93+1G>C;NM_001242762:exon2:c.93+1G>C)	.	.	splicing	ENSG00000170579(ENST00000534970:exon2:c.93+1G>C)	.	.	0.93173526686674	0.794
18	3874613	C	T	18	3874613	y	y	splicing	DLGAP1(NM_001242763:exon2:c.93+1G>A;NM_001242762:exon2:c.93+1G>A)	.	.	splicing	ENSG00000170579(ENST00000534970:exon2:c.93+1G>A)	.	.	0.981025059122381	0.82
18	3874614	C	A	18	3874614	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242762:exon1:c.G93T:p.R31S;DLGAP1:NM_001242763:exon1:c.G93T:p.R31S;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.G93T:p.R31S;	0.0140010265662432	0.03
18	3874614	C	G	18	3874614	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242762:exon1:c.G93C:p.R31S;DLGAP1:NM_001242763:exon1:c.G93C:p.R31S;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.G93C:p.R31S;	0.0161391101266291	0.034
18	3874614	C	T	18	3874614	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242762:exon1:c.G93A:p.R31R;DLGAP1:NM_001242763:exon1:c.G93A:p.R31R;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.G93A:p.R31R;	0.016809246825924	0.036
18	3874615	C	A	18	3874615	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242762:exon1:c.G92T:p.R31M;DLGAP1:NM_001242763:exon1:c.G92T:p.R31M;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.G92T:p.R31M;	0.0140010265662432	0.03
18	3874615	C	G	18	3874615	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242762:exon1:c.G92C:p.R31T;DLGAP1:NM_001242763:exon1:c.G92C:p.R31T;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.G92C:p.R31T;	0.016809246825924	0.036
18	3874615	C	T	18	3874615	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242762:exon1:c.G92A:p.R31K;DLGAP1:NM_001242763:exon1:c.G92A:p.R31K;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.G92A:p.R31K;	0.594810479771519	0.5
18	3874616	T	A	18	3874616	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242762:exon1:c.A91T:p.R31W;DLGAP1:NM_001242763:exon1:c.A91T:p.R31W;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.A91T:p.R31W;	7.15838005414123E-4	0.0
18	3874616	T	C	18	3874616	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242762:exon1:c.A91G:p.R31G;DLGAP1:NM_001242763:exon1:c.A91G:p.R31G;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.A91G:p.R31G;	7.69968134076753E-4	0.0
18	3874616	T	G	18	3874616	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242762:exon1:c.A91C:p.R31R;DLGAP1:NM_001242763:exon1:c.A91C:p.R31R;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000534970:exon1:c.A91C:p.R31R;	7.15838005414123E-4	0.0
18	3879104	A	C	18	3879104	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	2.96404089075045E-5	0.004
18	3879104	A	G	18	3879104	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	3.63314535132891E-5	0.004
18	3879104	A	T	18	3879104	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	4.3384934578263E-5	0.0
18	3879105	A	C	18	3879105	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	8.45900571352954E-5	0.0
18	3879105	A	G	18	3879105	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.43339230749095E-4	0.0
18	3879105	A	T	18	3879105	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	5.16289205861175E-5	0.0
18	3879106	T	A	18	3879106	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	3.43050147676418E-5	0.042
18	3879106	T	C	18	3879106	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	6.60358690432938E-5	0.002
18	3879106	T	G	18	3879106	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	2.47303831638445E-4	0.05
18	3879107	G	A	18	3879107	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.56963681205027E-4	0.0
18	3879107	G	C	18	3879107	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	3.95780696361917E-4	0.134
18	3879107	G	T	18	3879107	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.08735066492674E-4	0.016
18	3879108	G	A	18	3879108	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.53218371464647E-4	0.018
18	3879108	G	C	18	3879108	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	6.79967323768783E-4	0.03
18	3879108	G	T	18	3879108	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	2.86758249654174E-4	0.024
18	3879109	T	A	18	3879109	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.999925610256615	0.994
18	3879109	T	C	18	3879109	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.998843338686843	0.96
18	3879109	T	G	18	3879109	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.999888902265403	0.948
18	3879110	A	C	18	3879110	y	y	splicing	DLGAP1(NM_004746:exon5:c.957+2T>G;NM_001242761:exon5:c.957+2T>G)	.	.	splicing	ENSG00000170579(ENST00000315677:exon5:c.957+2T>G;ENST00000584874:exon2:c.957+2T>G;ENST00000515196:exon4:c.957+2T>G;ENST00000581527:exon5:c.957+2T>G)	.	.	0.999988247793601	0.926
18	3879110	A	G	18	3879110	y	y	splicing	DLGAP1(NM_004746:exon5:c.957+2T>C;NM_001242761:exon5:c.957+2T>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon5:c.957+2T>C;ENST00000584874:exon2:c.957+2T>C;ENST00000515196:exon4:c.957+2T>C;ENST00000581527:exon5:c.957+2T>C)	.	.	0.98918007292081	0.616
18	3879110	A	T	18	3879110	y	y	splicing	DLGAP1(NM_004746:exon5:c.957+2T>A;NM_001242761:exon5:c.957+2T>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon5:c.957+2T>A;ENST00000584874:exon2:c.957+2T>A;ENST00000515196:exon4:c.957+2T>A;ENST00000581527:exon5:c.957+2T>A)	.	.	0.999988247793601	0.926
18	3879111	C	A	18	3879111	y	y	splicing	DLGAP1(NM_004746:exon5:c.957+1G>T;NM_001242761:exon5:c.957+1G>T)	.	.	splicing	ENSG00000170579(ENST00000315677:exon5:c.957+1G>T;ENST00000584874:exon2:c.957+1G>T;ENST00000515196:exon4:c.957+1G>T;ENST00000581527:exon5:c.957+1G>T)	.	.	0.999985532734767	0.934
18	3879111	C	G	18	3879111	y	y	splicing	DLGAP1(NM_004746:exon5:c.957+1G>C;NM_001242761:exon5:c.957+1G>C)	.	.	splicing	ENSG00000170579(ENST00000315677:exon5:c.957+1G>C;ENST00000584874:exon2:c.957+1G>C;ENST00000515196:exon4:c.957+1G>C;ENST00000581527:exon5:c.957+1G>C)	.	.	0.999985532734767	0.934
18	3879111	C	T	18	3879111	y	y	splicing	DLGAP1(NM_004746:exon5:c.957+1G>A;NM_001242761:exon5:c.957+1G>A)	.	.	splicing	ENSG00000170579(ENST00000315677:exon5:c.957+1G>A;ENST00000584874:exon2:c.957+1G>A;ENST00000515196:exon4:c.957+1G>A;ENST00000581527:exon5:c.957+1G>A)	.	.	0.999985532734767	0.934
18	3879112	C	A	18	3879112	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon4:c.G957T:p.Q319H;DLGAP1:NM_004746:exon4:c.G957T:p.Q319H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000515196:exon3:c.G957T:p.Q319H;ENSG00000170579:ENST00000584874:exon1:c.G957T:p.Q319H;ENSG00000170579:ENST00000315677:exon4:c.G957T:p.Q319H;ENSG00000170579:ENST00000581527:exon4:c.G957T:p.Q319H;	0.999992895158708	1.0
18	3879112	C	G	18	3879112	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon4:c.G957C:p.Q319H;DLGAP1:NM_004746:exon4:c.G957C:p.Q319H;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000515196:exon3:c.G957C:p.Q319H;ENSG00000170579:ENST00000584874:exon1:c.G957C:p.Q319H;ENSG00000170579:ENST00000315677:exon4:c.G957C:p.Q319H;ENSG00000170579:ENST00000581527:exon4:c.G957C:p.Q319H;	0.999996767810372	1.0
18	3879112	C	T	18	3879112	y	y	exonic	DLGAP1	synonymous SNV	DLGAP1:NM_001242761:exon4:c.G957A:p.Q319Q;DLGAP1:NM_004746:exon4:c.G957A:p.Q319Q;	exonic	ENSG00000170579	synonymous SNV	ENSG00000170579:ENST00000515196:exon3:c.G957A:p.Q319Q;ENSG00000170579:ENST00000584874:exon1:c.G957A:p.Q319Q;ENSG00000170579:ENST00000315677:exon4:c.G957A:p.Q319Q;ENSG00000170579:ENST00000581527:exon4:c.G957A:p.Q319Q;	0.999974493123168	0.996
18	3879113	T	A	18	3879113	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon4:c.A956T:p.Q319L;DLGAP1:NM_004746:exon4:c.A956T:p.Q319L;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000515196:exon3:c.A956T:p.Q319L;ENSG00000170579:ENST00000584874:exon1:c.A956T:p.Q319L;ENSG00000170579:ENST00000315677:exon4:c.A956T:p.Q319L;ENSG00000170579:ENST00000581527:exon4:c.A956T:p.Q319L;	0.999967123422476	0.996
18	3879113	T	C	18	3879113	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon4:c.A956G:p.Q319R;DLGAP1:NM_004746:exon4:c.A956G:p.Q319R;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000515196:exon3:c.A956G:p.Q319R;ENSG00000170579:ENST00000584874:exon1:c.A956G:p.Q319R;ENSG00000170579:ENST00000315677:exon4:c.A956G:p.Q319R;ENSG00000170579:ENST00000581527:exon4:c.A956G:p.Q319R;	0.99990374307562	0.998
18	3879113	T	G	18	3879113	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon4:c.A956C:p.Q319P;DLGAP1:NM_004746:exon4:c.A956C:p.Q319P;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000515196:exon3:c.A956C:p.Q319P;ENSG00000170579:ENST00000584874:exon1:c.A956C:p.Q319P;ENSG00000170579:ENST00000315677:exon4:c.A956C:p.Q319P;ENSG00000170579:ENST00000581527:exon4:c.A956C:p.Q319P;	0.999607023156742	0.998
18	3879114	G	A	18	3879114	y	y	exonic	DLGAP1	stopgain SNV	DLGAP1:NM_001242761:exon4:c.C955T:p.Q319X;DLGAP1:NM_004746:exon4:c.C955T:p.Q319X;	exonic	ENSG00000170579	stopgain SNV	ENSG00000170579:ENST00000515196:exon3:c.C955T:p.Q319X;ENSG00000170579:ENST00000584874:exon1:c.C955T:p.Q319X;ENSG00000170579:ENST00000315677:exon4:c.C955T:p.Q319X;ENSG00000170579:ENST00000581527:exon4:c.C955T:p.Q319X;	0.999837888780206	0.992
18	3879114	G	C	18	3879114	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon4:c.C955G:p.Q319E;DLGAP1:NM_004746:exon4:c.C955G:p.Q319E;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000515196:exon3:c.C955G:p.Q319E;ENSG00000170579:ENST00000584874:exon1:c.C955G:p.Q319E;ENSG00000170579:ENST00000315677:exon4:c.C955G:p.Q319E;ENSG00000170579:ENST00000581527:exon4:c.C955G:p.Q319E;	0.946163805714493	0.718
18	3879114	G	T	18	3879114	y	y	exonic	DLGAP1	nonsynonymous SNV	DLGAP1:NM_001242761:exon4:c.C955A:p.Q319K;DLGAP1:NM_004746:exon4:c.C955A:p.Q319K;	exonic	ENSG00000170579	nonsynonymous SNV	ENSG00000170579:ENST00000515196:exon3:c.C955A:p.Q319K;ENSG00000170579:ENST00000584874:exon1:c.C955A:p.Q319K;ENSG00000170579:ENST00000315677:exon4:c.C955A:p.Q319K;ENSG00000170579:ENST00000581527:exon4:c.C955A:p.Q319K;	0.923125472533301	0.69
18	3880139	A	C	18	3880139	y	y	ncRNA_UTR5	DLGAP1	.	.	ncRNA_UTR5	ENSG00000170579	.	.	1.32626888200385E-4	0.01
18	3880139	A	G	18	3880139	y	y	ncRNA_UTR5	DLGAP1	.	.	ncRNA_UTR5	ENSG00000170579	.	.	1.32626888200385E-4	0.01
18	3880139	A	T	18	3880139	y	y	ncRNA_UTR5	DLGAP1	.	.	ncRNA_UTR5	ENSG00000170579	.	.	2.41036740142694E-4	0.004
18	3880140	T	A	18	3880140	y	y	ncRNA_UTR5	DLGAP1	.	.	ncRNA_UTR5	ENSG00000170579	.	.	4.8785843835862E-5	0.112
18	3880140	T	C	18	3880140	y	y	ncRNA_UTR5	DLGAP1	.	.	ncRNA_UTR5	ENSG00000170579	.	.	4.8785843835862E-5	0.118
18	3880140	T	G	18	3880140	y	y	ncRNA_UTR5	DLGAP1	.	.	ncRNA_UTR5	ENSG00000170579	.	.	4.8785843835862E-5	0.118
18	3880141	C	A	18	3880141	y	y	splicing	DLGAP1	.	.	splicing	ENSG00000170579	.	.	0.00388693849935709	0.056
18	3880141	C	G	18	3880141	y	y	splicing	DLGAP1	.	.	splicing	ENSG00000170579	.	.	0.00209876876144788	0.056
18	3880141	C	T	18	3880141	y	y	splicing	DLGAP1	.	.	splicing	ENSG00000170579	.	.	0.00388693849935709	0.056
18	3880142	T	A	18	3880142	y	y	splicing	DLGAP1	.	.	splicing	ENSG00000170579	.	.	0.00142612826391554	0.106
18	3880142	T	C	18	3880142	y	y	splicing	DLGAP1	.	.	splicing	ENSG00000170579	.	.	0.00142612826391554	0.038
18	3880142	T	G	18	3880142	y	y	splicing	DLGAP1	.	.	splicing	ENSG00000170579	.	.	0.00142612826391554	0.038
18	3880143	G	A	18	3880143	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	5.83286272517013E-4	0.032
18	3880143	G	C	18	3880143	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	5.83286272517013E-4	0.03
18	3880143	G	T	18	3880143	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	5.83286272517013E-4	0.03
18	3880144	G	A	18	3880144	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	3.03359245426808E-5	0.01
18	3880144	G	C	18	3880144	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	2.89205754540505E-5	0.01
18	3880144	G	T	18	3880144	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	3.03359245426808E-5	0.012
18	3880145	G	A	18	3880145	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.71037163550947E-5	0.02
18	3880145	G	C	18	3880145	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.71037163550947E-5	0.02
18	3880145	G	T	18	3880145	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.71037163550947E-5	0.02
18	3880146	G	A	18	3880146	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.08061015914698E-4	0.076
18	3880146	G	C	18	3880146	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.08061015914698E-4	0.076
18	3880146	G	T	18	3880146	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.08061015914698E-4	0.076
18	3880147	G	A	18	3880147	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.71037163550947E-5	0.018
18	3880147	G	C	18	3880147	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.71037163550947E-5	0.018
18	3880147	G	T	18	3880147	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.71037163550947E-5	0.018
18	3880148	A	C	18	3880148	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	6.09337574150394E-6	0.0
18	3880148	A	G	18	3880148	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	6.09337574150394E-6	0.0
18	3880148	A	T	18	3880148	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	6.09337574150394E-6	0.0
18	3880149	A	C	18	3880149	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	4.09774573448081E-5	0.004
18	3880149	A	G	18	3880149	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	4.09774573448081E-5	0.004
18	3880149	A	T	18	3880149	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	4.09774573448081E-5	0.008
18	3880150	T	A	18	3880150	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.05130521861172E-5	0.008
18	3880150	T	C	18	3880150	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.05130521861172E-5	0.0
18	3880150	T	G	18	3880150	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	1.05130521861172E-5	0.0
18	3880151	G	A	18	3880151	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.00286008394680243	0.058
18	3880151	G	C	18	3880151	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.00120689695076516	0.054
18	3880151	G	T	18	3880151	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.00286008394680243	0.054
18	3880152	A	C	18	3880152	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.00106685483749524	0.018
18	3880152	A	G	18	3880152	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.00106685483749524	0.018
18	3880152	A	T	18	3880152	y	y	ncRNA_intronic	DLGAP1-AS3	.	.	ncRNA_intronic	ENSG00000263724	.	.	0.00110339085949695	0.018
18	5145753	A	C	18	5145754	y	y	exonic	C18orf42	synonymous SNV	C18orf42:NM_001145194:exon2:c.T18G:p.G6G;	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000434239:exon2:c.T18G:p.G6G;ENSG00000231824:ENST00000580650:exon2:c.T39G:p.G13G;	0.0198783619701426	0.15
18	5145753	A	G	18	5145754	y	y	exonic	C18orf42	synonymous SNV	C18orf42:NM_001145194:exon2:c.T18C:p.G6G;	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000434239:exon2:c.T18C:p.G6G;ENSG00000231824:ENST00000580650:exon2:c.T39C:p.G13G;	0.00787431099966123	0.122
18	5145753	A	T	18	5145754	y	y	exonic	C18orf42	synonymous SNV	C18orf42:NM_001145194:exon2:c.T18A:p.G6G;	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000434239:exon2:c.T18A:p.G6G;ENSG00000231824:ENST00000580650:exon2:c.T39A:p.G13G;	0.0540665220282579	0.18
18	5145754	C	A	18	5145755	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon2:c.G17T:p.G6V;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon2:c.G17T:p.G6V;ENSG00000231824:ENST00000580650:exon2:c.G38T:p.G13V;	0.999894798684066	0.98
18	5145754	C	G	18	5145755	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon2:c.G17C:p.G6A;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon2:c.G17C:p.G6A;ENSG00000231824:ENST00000580650:exon2:c.G38C:p.G13A;	0.99860951683944	0.94
18	5145754	C	T	18	5145755	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon2:c.G17A:p.G6D;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon2:c.G17A:p.G6D;ENSG00000231824:ENST00000580650:exon2:c.G38A:p.G13D;	0.999559911756355	0.962
18	5145755	C	A	18	5145756	y	y	splicing	C18orf42(NM_001145194:exon3:c.17-1G>T)	.	.	splicing	ENSG00000231824(ENST00000580650:exon3:c.38-1G>T;ENST00000434239:exon3:c.17-1G>T)	.	.	0.999985532734767	0.936
18	5145755	C	G	18	5145756	y	y	splicing	C18orf42(NM_001145194:exon3:c.17-1G>C)	.	.	splicing	ENSG00000231824(ENST00000580650:exon3:c.38-1G>C;ENST00000434239:exon3:c.17-1G>C)	.	.	0.999985532734767	0.936
18	5145755	C	T	18	5145756	y	y	splicing	C18orf42(NM_001145194:exon3:c.17-1G>A)	.	.	splicing	ENSG00000231824(ENST00000580650:exon3:c.38-1G>A;ENST00000434239:exon3:c.17-1G>A)	.	.	0.999985532734767	0.936
18	5145756	T	A	18	5145757	y	y	splicing	C18orf42(NM_001145194:exon3:c.17-2A>T)	.	.	splicing	ENSG00000231824(ENST00000580650:exon3:c.38-2A>T;ENST00000434239:exon3:c.17-2A>T)	.	.	0.999988247793601	0.928
18	5145756	T	C	18	5145757	y	y	splicing	C18orf42(NM_001145194:exon3:c.17-2A>G)	.	.	splicing	ENSG00000231824(ENST00000580650:exon3:c.38-2A>G;ENST00000434239:exon3:c.17-2A>G)	.	.	0.999988247793601	0.928
18	5145756	T	G	18	5145757	y	y	splicing	C18orf42(NM_001145194:exon3:c.17-2A>C)	.	.	splicing	ENSG00000231824(ENST00000580650:exon3:c.38-2A>C;ENST00000434239:exon3:c.17-2A>C)	.	.	0.999988247793601	0.928
18	5145757	A	C	18	5145758	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.760737366486783	0.708
18	5145757	A	G	18	5145758	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	6.24289956486435E-5	0.004
18	5145757	A	T	18	5145758	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.51459031483802	0.362
18	5145758	G	A	18	5145759	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.55048325000554E-4	0.066
18	5145758	G	C	18	5145759	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	6.65086597184971E-4	0.056
18	5145758	G	T	18	5145759	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.36323080713272E-4	0.056
18	5145759	C	A	18	5145760	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	8.98435077059392E-4	0.054
18	5145759	C	G	18	5145760	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	5.81927639161716E-4	0.006
18	5145759	C	T	18	5145760	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0022654383886721	0.018
18	5145760	C	A	18	5145761	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	2.60292707764434E-4	0.004
18	5145760	C	G	18	5145761	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.89854891593017E-4	0.03
18	5145760	C	T	18	5145761	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.996041166678916	0.924
18	5145761	A	C	18	5145762	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0237020915044985	0.3
18	5145761	A	G	18	5145762	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	4.33546265942207E-4	0.004
18	5145761	A	T	18	5145762	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.999887732127266	0.972
18	5145762	A	C	18	5145763	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.561175336440083	0.432
18	5145762	A	G	18	5145763	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.00177464585332471	0.042
18	5145762	A	T	18	5145763	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.91093843651132	0.664
18	5145763	A	C	18	5145764	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.134667908087244	0.452
18	5145763	A	G	18	5145764	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.7287689130463E-4	0.06
18	5145763	A	T	18	5145764	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.150422760491056	0.45
18	5145764	A	C	18	5145765	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.332288820604212	0.39
18	5145764	A	G	18	5145765	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	3.38642736511192E-5	0.032
18	5145764	A	T	18	5145765	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.972828173295413	0.638
18	5145765	A	C	18	5145766	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.960546519323572	0.644
18	5145765	A	G	18	5145766	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0475239468643736	0.338
18	5145765	A	T	18	5145766	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.974935024101429	0.716
18	5145766	C	A	18	5145767	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.34643269883587E-5	0.018
18	5145766	C	G	18	5145767	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.34643269883587E-5	0.02
18	5145766	C	T	18	5145767	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	9.45889851553273E-5	0.008
18	5197029	C	A	18	5197030	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.18973039934912E-4	0.0
18	5197029	C	G	18	5197030	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	7.27562033715676E-5	0.0
18	5197029	C	T	18	5197030	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.61024406802368E-4	0.0
18	5197030	G	A	18	5197031	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	4.68969574366537E-4	0.01
18	5197030	G	C	18	5197031	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.89511057389073E-4	0.002
18	5197030	G	T	18	5197031	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	2.4156885901322E-4	0.0
18	5197031	G	A	18	5197032	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	6.03901208846411E-5	0.002
18	5197031	G	C	18	5197032	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	9.88295159843012E-5	0.01
18	5197031	G	T	18	5197032	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	2.04385102434392E-4	0.008
18	5197032	T	A	18	5197033	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	2.71553356197071E-4	0.026
18	5197032	T	C	18	5197033	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	4.10160393940822E-4	0.088
18	5197032	T	G	18	5197033	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	9.15266089933683E-5	0.028
18	5197033	G	A	18	5197034	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	6.46766965523571E-4	0.166
18	5197033	G	C	18	5197034	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	9.22208267748002E-4	0.2
18	5197033	G	T	18	5197034	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	3.49809148929925E-4	0.036
18	5197034	T	A	18	5197035	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.999939514487293	0.898
18	5197034	T	C	18	5197035	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.996773922038754	0.962
18	5197034	T	G	18	5197035	y	y	intronic	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.999931428360026	0.898
18	5197035	A	C	18	5197036	y	y	splicing	C18orf42(NM_001145194:exon2:c.16+2T>G)	.	.	splicing	ENSG00000231824(ENST00000434239:exon2:c.16+2T>G)	.	.	0.999989917668626	0.926
18	5197035	A	G	18	5197036	y	y	splicing	C18orf42(NM_001145194:exon2:c.16+2T>C)	.	.	splicing	ENSG00000231824(ENST00000434239:exon2:c.16+2T>C)	.	.	0.986528855787127	0.6
18	5197035	A	T	18	5197036	y	y	splicing	C18orf42(NM_001145194:exon2:c.16+2T>A)	.	.	splicing	ENSG00000231824(ENST00000434239:exon2:c.16+2T>A)	.	.	0.999989917668626	0.926
18	5197036	C	A	18	5197037	y	y	splicing	C18orf42(NM_001145194:exon2:c.16+1G>T)	.	.	splicing	ENSG00000231824(ENST00000434239:exon2:c.16+1G>T)	.	.	0.999986675681007	0.938
18	5197036	C	G	18	5197037	y	y	splicing	C18orf42(NM_001145194:exon2:c.16+1G>C)	.	.	splicing	ENSG00000231824(ENST00000434239:exon2:c.16+1G>C)	.	.	0.999986675681007	0.938
18	5197036	C	T	18	5197037	y	y	splicing	C18orf42(NM_001145194:exon2:c.16+1G>A)	.	.	splicing	ENSG00000231824(ENST00000434239:exon2:c.16+1G>A)	.	.	0.999986675681007	0.938
18	5197037	C	A	18	5197038	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon1:c.G16T:p.G6C;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.G16T:p.G6C;	0.999988280925935	0.988
18	5197037	C	G	18	5197038	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon1:c.G16C:p.G6R;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.G16C:p.G6R;	0.999995751355662	1.0
18	5197037	C	T	18	5197038	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon1:c.G16A:p.G6S;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.G16A:p.G6S;	0.999976508202873	0.998
18	5197038	T	A	18	5197039	y	y	exonic	C18orf42	synonymous SNV	C18orf42:NM_001145194:exon1:c.A15T:p.P5P;	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.A15T:p.P5P;	0.999926439874965	0.962
18	5197038	T	C	18	5197039	y	y	exonic	C18orf42	synonymous SNV	C18orf42:NM_001145194:exon1:c.A15G:p.P5P;	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.A15G:p.P5P;	0.99982071910104	0.966
18	5197038	T	G	18	5197039	y	y	exonic	C18orf42	synonymous SNV	C18orf42:NM_001145194:exon1:c.A15C:p.P5P;	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.A15C:p.P5P;	0.999738797575293	0.976
18	5197039	G	A	18	5197040	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon1:c.C14T:p.P5L;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.C14T:p.P5L;	0.996533065404103	0.87
18	5197039	G	C	18	5197040	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon1:c.C14G:p.P5R;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.C14G:p.P5R;	0.340808092900573	0.384
18	5197039	G	T	18	5197040	y	y	exonic	C18orf42	nonsynonymous SNV	C18orf42:NM_001145194:exon1:c.C14A:p.P5Q;	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000434239:exon1:c.C14A:p.P5Q;	0.0166922937962806	0.096
18	5197443	T	A	18	5197444	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.54918145166468E-4	0.01
18	5197443	T	C	18	5197444	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.71267056476718E-4	0.01
18	5197443	T	G	18	5197444	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	1.71267056476718E-4	0.014
18	5197444	T	A	18	5197445	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0980333975144165	0.386
18	5197444	T	C	18	5197445	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0727662502125991	0.228
18	5197444	T	G	18	5197445	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0727662502125991	0.234
18	5197445	A	C	18	5197446	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0207672217962215	0.15
18	5197445	A	G	18	5197446	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0207672217962215	0.148
18	5197445	A	T	18	5197446	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	0.0980333975144165	0.298
18	5197446	A	C	18	5197447	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	5.1258582512526E-4	0.002
18	5197446	A	G	18	5197447	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	5.1258582512526E-4	0.002
18	5197446	A	T	18	5197447	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	5.1258582512526E-4	0.002
18	5197447	T	A	18	5197448	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	7.15838005414123E-4	0.0
18	5197447	T	C	18	5197448	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	7.15838005414123E-4	0.0
18	5197447	T	G	18	5197448	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	7.15838005414123E-4	0.0
18	5197448	T	A	18	5197449	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	3.09333326667097E-4	0.03
18	5197448	T	C	18	5197449	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	3.41972496645175E-4	0.032
18	5197448	T	G	18	5197449	n	y	upstream	C18orf42	.	.	intronic	ENSG00000231824	.	.	3.41972496645175E-4	0.032
18	5197449	A	C	18	5197450	n	y	upstream	C18orf42	.	.	splicing	ENSG00000231824(ENST00000580650:exon2:c.37+2T>G)	.	.	0.40915065408327	0.57
18	5197449	A	G	18	5197450	n	y	upstream	C18orf42	.	.	splicing	ENSG00000231824(ENST00000580650:exon2:c.37+2T>C)	.	.	0.40915065408327	0.556
18	5197449	A	T	18	5197450	n	y	upstream	C18orf42	.	.	splicing	ENSG00000231824(ENST00000580650:exon2:c.37+2T>A)	.	.	0.542582390122206	0.708
18	5197450	C	A	18	5197451	n	y	upstream	C18orf42	.	.	splicing	ENSG00000231824(ENST00000580650:exon2:c.37+1G>T)	.	.	0.822445538861235	0.634
18	5197450	C	G	18	5197451	n	y	upstream	C18orf42	.	.	splicing	ENSG00000231824(ENST00000580650:exon2:c.37+1G>C)	.	.	0.822445538861235	0.594
18	5197450	C	T	18	5197451	n	y	upstream	C18orf42	.	.	splicing	ENSG00000231824(ENST00000580650:exon2:c.37+1G>A)	.	.	0.903408105961928	0.704
18	5197451	C	A	18	5197452	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.G37T:p.G13C;	0.00846195178515722	0.028
18	5197451	C	G	18	5197452	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.G37C:p.G13R;	0.00945269749865717	0.034
18	5197451	C	T	18	5197452	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.G37A:p.G13S;	0.034851112831758	0.118
18	5197452	T	A	18	5197453	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.A36T:p.A12A;	0.255374117213338	0.472
18	5197452	T	C	18	5197453	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.A36G:p.A12A;	0.0980333975144165	0.41
18	5197452	T	G	18	5197453	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	synonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.A36C:p.A12A;	0.0980333975144165	0.458
18	5197453	G	A	18	5197454	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.C35T:p.A12V;	5.38385775481698E-4	0.032
18	5197453	G	C	18	5197454	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.C35G:p.A12G;	3.85723698023841E-4	0.024
18	5197453	G	T	18	5197454	n	y	upstream	C18orf42	.	.	exonic	ENSG00000231824	nonsynonymous SNV	ENSG00000231824:ENST00000580650:exon1:c.C35A:p.A12E;	2.07227274171982E-4	0.026
18	5292202	T	A	18	5292203	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon3:c.A5T:p.E2V;ZBTB14:NM_001243704:exon4:c.A5T:p.E2V;ZBTB14:NM_001143823:exon4:c.A5T:p.E2V;ZBTB14:NM_001243702:exon4:c.A5T:p.E2V;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon4:c.A5T:p.E2V;ENSG00000198081:ENST00000582388:exon4:c.A5T:p.E2V;ENSG00000198081:ENST00000400143:exon3:c.A5T:p.E2V;ENSG00000198081:ENST00000582135:exon4:c.A5T:p.E2V;ENSG00000198081:ENST00000578327:exon4:c.A5T:p.E2V;	6.81102065580293E-4	0.024
18	5292202	T	C	18	5292203	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon3:c.A5G:p.E2G;ZBTB14:NM_001243704:exon4:c.A5G:p.E2G;ZBTB14:NM_001143823:exon4:c.A5G:p.E2G;ZBTB14:NM_001243702:exon4:c.A5G:p.E2G;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon4:c.A5G:p.E2G;ENSG00000198081:ENST00000582388:exon4:c.A5G:p.E2G;ENSG00000198081:ENST00000400143:exon3:c.A5G:p.E2G;ENSG00000198081:ENST00000582135:exon4:c.A5G:p.E2G;ENSG00000198081:ENST00000578327:exon4:c.A5G:p.E2G;	0.00123008557902245	0.022
18	5292202	T	G	18	5292203	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon3:c.A5C:p.E2A;ZBTB14:NM_001243704:exon4:c.A5C:p.E2A;ZBTB14:NM_001143823:exon4:c.A5C:p.E2A;ZBTB14:NM_001243702:exon4:c.A5C:p.E2A;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon4:c.A5C:p.E2A;ENSG00000198081:ENST00000582388:exon4:c.A5C:p.E2A;ENSG00000198081:ENST00000400143:exon3:c.A5C:p.E2A;ENSG00000198081:ENST00000582135:exon4:c.A5C:p.E2A;ENSG00000198081:ENST00000578327:exon4:c.A5C:p.E2A;	8.14655562667523E-4	0.032
18	5292203	C	A	18	5292204	y	y	exonic	ZBTB14	stopgain SNV	ZBTB14:NM_003409:exon3:c.G4T:p.E2X;ZBTB14:NM_001243704:exon4:c.G4T:p.E2X;ZBTB14:NM_001143823:exon4:c.G4T:p.E2X;ZBTB14:NM_001243702:exon4:c.G4T:p.E2X;	exonic	ENSG00000198081	stopgain SNV	ENSG00000198081:ENST00000357006:exon4:c.G4T:p.E2X;ENSG00000198081:ENST00000582388:exon4:c.G4T:p.E2X;ENSG00000198081:ENST00000400143:exon3:c.G4T:p.E2X;ENSG00000198081:ENST00000582135:exon4:c.G4T:p.E2X;ENSG00000198081:ENST00000578327:exon4:c.G4T:p.E2X;	0.990923148449296	0.776
18	5292203	C	G	18	5292204	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon3:c.G4C:p.E2Q;ZBTB14:NM_001243704:exon4:c.G4C:p.E2Q;ZBTB14:NM_001143823:exon4:c.G4C:p.E2Q;ZBTB14:NM_001243702:exon4:c.G4C:p.E2Q;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon4:c.G4C:p.E2Q;ENSG00000198081:ENST00000582388:exon4:c.G4C:p.E2Q;ENSG00000198081:ENST00000400143:exon3:c.G4C:p.E2Q;ENSG00000198081:ENST00000582135:exon4:c.G4C:p.E2Q;ENSG00000198081:ENST00000578327:exon4:c.G4C:p.E2Q;	0.160866868632762	0.428
18	5292203	C	T	18	5292204	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon3:c.G4A:p.E2K;ZBTB14:NM_001243704:exon4:c.G4A:p.E2K;ZBTB14:NM_001143823:exon4:c.G4A:p.E2K;ZBTB14:NM_001243702:exon4:c.G4A:p.E2K;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon4:c.G4A:p.E2K;ENSG00000198081:ENST00000582388:exon4:c.G4A:p.E2K;ENSG00000198081:ENST00000400143:exon3:c.G4A:p.E2K;ENSG00000198081:ENST00000582135:exon4:c.G4A:p.E2K;ENSG00000198081:ENST00000578327:exon4:c.G4A:p.E2K;	0.0335660794172765	0.38
18	5292204	C	A	18	5292205	y	y	splicing	ZBTB14(NM_003409:exon4:c.4-1G>T;NM_001143823:exon5:c.4-1G>T;NM_001243704:exon5:c.4-1G>T;NM_001243702:exon5:c.4-1G>T)	.	.	splicing	ENSG00000198081(ENST00000357006:exon5:c.4-1G>T;ENST00000400143:exon4:c.4-1G>T;ENST00000582388:exon5:c.4-1G>T;ENST00000582135:exon5:c.4-1G>T;ENST00000578327:exon5:c.4-1G>T)	.	.	0.999983532267011	0.746
18	5292204	C	G	18	5292205	y	y	splicing	ZBTB14(NM_003409:exon4:c.4-1G>C;NM_001143823:exon5:c.4-1G>C;NM_001243704:exon5:c.4-1G>C;NM_001243702:exon5:c.4-1G>C)	.	.	splicing	ENSG00000198081(ENST00000357006:exon5:c.4-1G>C;ENST00000400143:exon4:c.4-1G>C;ENST00000582388:exon5:c.4-1G>C;ENST00000582135:exon5:c.4-1G>C;ENST00000578327:exon5:c.4-1G>C)	.	.	0.999983532267011	0.748
18	5292204	C	T	18	5292205	y	y	splicing	ZBTB14(NM_003409:exon4:c.4-1G>A;NM_001143823:exon5:c.4-1G>A;NM_001243704:exon5:c.4-1G>A;NM_001243702:exon5:c.4-1G>A)	.	.	splicing	ENSG00000198081(ENST00000357006:exon5:c.4-1G>A;ENST00000400143:exon4:c.4-1G>A;ENST00000582388:exon5:c.4-1G>A;ENST00000582135:exon5:c.4-1G>A;ENST00000578327:exon5:c.4-1G>A)	.	.	0.999983532267011	0.746
18	5292205	T	A	18	5292206	y	y	splicing	ZBTB14(NM_003409:exon4:c.4-2A>T;NM_001143823:exon5:c.4-2A>T;NM_001243704:exon5:c.4-2A>T;NM_001243702:exon5:c.4-2A>T)	.	.	splicing	ENSG00000198081(ENST00000357006:exon5:c.4-2A>T;ENST00000400143:exon4:c.4-2A>T;ENST00000582388:exon5:c.4-2A>T;ENST00000582135:exon5:c.4-2A>T;ENST00000578327:exon5:c.4-2A>T)	.	.	0.999989378869813	0.76
18	5292205	T	C	18	5292206	y	y	splicing	ZBTB14(NM_003409:exon4:c.4-2A>G;NM_001143823:exon5:c.4-2A>G;NM_001243704:exon5:c.4-2A>G;NM_001243702:exon5:c.4-2A>G)	.	.	splicing	ENSG00000198081(ENST00000357006:exon5:c.4-2A>G;ENST00000400143:exon4:c.4-2A>G;ENST00000582388:exon5:c.4-2A>G;ENST00000582135:exon5:c.4-2A>G;ENST00000578327:exon5:c.4-2A>G)	.	.	0.999989378869813	0.762
18	5292205	T	G	18	5292206	y	y	splicing	ZBTB14(NM_003409:exon4:c.4-2A>C;NM_001143823:exon5:c.4-2A>C;NM_001243704:exon5:c.4-2A>C;NM_001243702:exon5:c.4-2A>C)	.	.	splicing	ENSG00000198081(ENST00000357006:exon5:c.4-2A>C;ENST00000400143:exon4:c.4-2A>C;ENST00000582388:exon5:c.4-2A>C;ENST00000582135:exon5:c.4-2A>C;ENST00000578327:exon5:c.4-2A>C)	.	.	0.999989378869813	0.762
18	5292206	A	C	18	5292207	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.957982085653395	0.524
18	5292206	A	G	18	5292207	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.98270072159508E-5	0.042
18	5292206	A	T	18	5292207	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.13709821957497E-4	0.128
18	5292207	C	A	18	5292208	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	9.63521065360401E-5	0.088
18	5292207	C	G	18	5292208	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.45934117872778E-4	0.198
18	5292207	C	T	18	5292208	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	6.66791341453317E-5	0.106
18	5292208	A	C	18	5292209	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00113279392052829	0.222
18	5292208	A	G	18	5292209	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.57920683427436E-4	0.042
18	5292208	A	T	18	5292209	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.945131996076057	0.534
18	5292209	A	C	18	5292210	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.30752014810966E-4	0.064
18	5292209	A	G	18	5292210	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	6.26081223543664E-5	0.08
18	5292209	A	T	18	5292210	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.4296698014799E-4	0.022
18	5292210	A	C	18	5292211	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.87682256350363E-5	0.08
18	5292210	A	G	18	5292211	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.03249453989263E-5	0.024
18	5292210	A	T	18	5292211	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.90145772830515E-5	0.066
18	5292211	A	C	18	5292212	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.78744938371209E-5	0.054
18	5292211	A	G	18	5292212	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.64365824073441E-5	0.066
18	5292211	A	T	18	5292212	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.78744938371209E-5	0.056
18	5292212	A	C	18	5292213	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.78640111645612E-5	0.068
18	5292212	A	G	18	5292213	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.77847103154721E-5	0.006
18	5292212	A	T	18	5292213	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.07493222785494E-4	0.074
18	5292213	A	C	18	5292214	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.06836831523466E-5	0.046
18	5292213	A	G	18	5292214	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.52936723817962E-5	0.02
18	5292213	A	T	18	5292214	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.34004516892524E-5	0.042
18	5292214	A	C	18	5292215	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.5820602056879E-4	0.158
18	5292214	A	G	18	5292215	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.98248617499926E-5	0.042
18	5292214	A	T	18	5292215	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.39079109395081E-4	0.15
18	5292215	A	C	18	5292216	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.32831441337797E-5	0.098
18	5292215	A	G	18	5292216	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.16629928475771E-5	0.006
18	5292215	A	T	18	5292216	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.42333892675781E-5	0.044
18	5293235	A	C	18	5293236	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.432195571276028	0.232
18	5293235	A	G	18	5293236	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.125623377775849	0.326
18	5293235	A	T	18	5293236	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.161393492895568	0.244
18	5293236	T	A	18	5293237	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00340004977861974	0.178
18	5293236	T	C	18	5293237	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00157450690761269	0.092
18	5293236	T	G	18	5293237	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.00157306748348E-4	0.014
18	5293237	A	C	18	5293238	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.984935083339923	0.59
18	5293237	A	G	18	5293238	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.985094617859096	0.666
18	5293237	A	T	18	5293238	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.994404478445498	0.704
18	5293238	G	A	18	5293239	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.67564392421308E-5	0.008
18	5293238	G	C	18	5293239	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.74325011430143E-4	0.054
18	5293238	G	T	18	5293239	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	6.35081906046412E-5	0.028
18	5293239	T	A	18	5293240	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.996792117983287	0.948
18	5293239	T	C	18	5293240	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.998477771759222	0.946
18	5293239	T	G	18	5293240	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.994873333850071	0.932
18	5293240	T	A	18	5293241	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.999888642814219	0.93
18	5293240	T	C	18	5293241	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.989832219402588	0.908
18	5293240	T	G	18	5293241	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.999873756663766	0.954
18	5293241	A	C	18	5293242	y	y	splicing	ZBTB14(NM_003409:exon3:c.3+2T>G;NM_001143823:exon4:c.3+2T>G;NM_001243704:exon4:c.3+2T>G;NM_001243702:exon4:c.3+2T>G)	.	.	splicing	ENSG00000198081(ENST00000357006:exon4:c.3+2T>G;ENST00000400143:exon3:c.3+2T>G;ENST00000582388:exon4:c.3+2T>G;ENST00000582135:exon4:c.3+2T>G;ENST00000578327:exon4:c.3+2T>G)	.	.	0.999988247793601	0.926
18	5293241	A	G	18	5293242	y	y	splicing	ZBTB14(NM_003409:exon3:c.3+2T>C;NM_001143823:exon4:c.3+2T>C;NM_001243704:exon4:c.3+2T>C;NM_001243702:exon4:c.3+2T>C)	.	.	splicing	ENSG00000198081(ENST00000357006:exon4:c.3+2T>C;ENST00000400143:exon3:c.3+2T>C;ENST00000582388:exon4:c.3+2T>C;ENST00000582135:exon4:c.3+2T>C;ENST00000578327:exon4:c.3+2T>C)	.	.	0.986973409415639	0.61
18	5293241	A	T	18	5293242	y	y	splicing	ZBTB14(NM_003409:exon3:c.3+2T>A;NM_001143823:exon4:c.3+2T>A;NM_001243704:exon4:c.3+2T>A;NM_001243702:exon4:c.3+2T>A)	.	.	splicing	ENSG00000198081(ENST00000357006:exon4:c.3+2T>A;ENST00000400143:exon3:c.3+2T>A;ENST00000582388:exon4:c.3+2T>A;ENST00000582135:exon4:c.3+2T>A;ENST00000578327:exon4:c.3+2T>A)	.	.	0.999988247793601	0.928
18	5293242	C	A	18	5293243	y	y	splicing	ZBTB14(NM_003409:exon3:c.3+1G>T;NM_001143823:exon4:c.3+1G>T;NM_001243704:exon4:c.3+1G>T;NM_001243702:exon4:c.3+1G>T)	.	.	splicing	ENSG00000198081(ENST00000357006:exon4:c.3+1G>T;ENST00000400143:exon3:c.3+1G>T;ENST00000582388:exon4:c.3+1G>T;ENST00000582135:exon4:c.3+1G>T;ENST00000578327:exon4:c.3+1G>T)	.	.	0.999989072007339	0.932
18	5293242	C	G	18	5293243	y	y	splicing	ZBTB14(NM_003409:exon3:c.3+1G>C;NM_001143823:exon4:c.3+1G>C;NM_001243704:exon4:c.3+1G>C;NM_001243702:exon4:c.3+1G>C)	.	.	splicing	ENSG00000198081(ENST00000357006:exon4:c.3+1G>C;ENST00000400143:exon3:c.3+1G>C;ENST00000582388:exon4:c.3+1G>C;ENST00000582135:exon4:c.3+1G>C;ENST00000578327:exon4:c.3+1G>C)	.	.	0.999989072007339	0.932
18	5293242	C	T	18	5293243	y	y	splicing	ZBTB14(NM_003409:exon3:c.3+1G>A;NM_001143823:exon4:c.3+1G>A;NM_001243704:exon4:c.3+1G>A;NM_001243702:exon4:c.3+1G>A)	.	.	splicing	ENSG00000198081(ENST00000357006:exon4:c.3+1G>A;ENST00000400143:exon3:c.3+1G>A;ENST00000582388:exon4:c.3+1G>A;ENST00000582135:exon4:c.3+1G>A;ENST00000578327:exon4:c.3+1G>A)	.	.	0.999989072007339	0.932
18	5293243	C	A	18	5293244	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.G3T:p.M1I;ZBTB14:NM_001243704:exon3:c.G3T:p.M1I;ZBTB14:NM_001143823:exon3:c.G3T:p.M1I;ZBTB14:NM_001243702:exon3:c.G3T:p.M1I;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.G3T:p.M1I;ENSG00000198081:ENST00000582388:exon3:c.G3T:p.M1I;ENSG00000198081:ENST00000400143:exon2:c.G3T:p.M1I;ENSG00000198081:ENST00000582135:exon3:c.G3T:p.M1I;ENSG00000198081:ENST00000578327:exon3:c.G3T:p.M1I;	0.999800490842183	0.98
18	5293243	C	G	18	5293244	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.G3C:p.M1I;ZBTB14:NM_001243704:exon3:c.G3C:p.M1I;ZBTB14:NM_001143823:exon3:c.G3C:p.M1I;ZBTB14:NM_001243702:exon3:c.G3C:p.M1I;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.G3C:p.M1I;ENSG00000198081:ENST00000582388:exon3:c.G3C:p.M1I;ENSG00000198081:ENST00000400143:exon2:c.G3C:p.M1I;ENSG00000198081:ENST00000582135:exon3:c.G3C:p.M1I;ENSG00000198081:ENST00000578327:exon3:c.G3C:p.M1I;	0.999968763451416	0.99
18	5293243	C	T	18	5293244	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.G3A:p.M1I;ZBTB14:NM_001243704:exon3:c.G3A:p.M1I;ZBTB14:NM_001143823:exon3:c.G3A:p.M1I;ZBTB14:NM_001243702:exon3:c.G3A:p.M1I;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.G3A:p.M1I;ENSG00000198081:ENST00000582388:exon3:c.G3A:p.M1I;ENSG00000198081:ENST00000400143:exon2:c.G3A:p.M1I;ENSG00000198081:ENST00000582135:exon3:c.G3A:p.M1I;ENSG00000198081:ENST00000578327:exon3:c.G3A:p.M1I;	0.999975554718205	1.0
18	5293244	A	C	18	5293245	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.T2G:p.M1R;ZBTB14:NM_001243704:exon3:c.T2G:p.M1R;ZBTB14:NM_001143823:exon3:c.T2G:p.M1R;ZBTB14:NM_001243702:exon3:c.T2G:p.M1R;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.T2G:p.M1R;ENSG00000198081:ENST00000582388:exon3:c.T2G:p.M1R;ENSG00000198081:ENST00000400143:exon2:c.T2G:p.M1R;ENSG00000198081:ENST00000582135:exon3:c.T2G:p.M1R;ENSG00000198081:ENST00000578327:exon3:c.T2G:p.M1R;	0.92681251332318	0.702
18	5293244	A	G	18	5293245	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.T2C:p.M1T;ZBTB14:NM_001243704:exon3:c.T2C:p.M1T;ZBTB14:NM_001143823:exon3:c.T2C:p.M1T;ZBTB14:NM_001243702:exon3:c.T2C:p.M1T;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.T2C:p.M1T;ENSG00000198081:ENST00000582388:exon3:c.T2C:p.M1T;ENSG00000198081:ENST00000400143:exon2:c.T2C:p.M1T;ENSG00000198081:ENST00000582135:exon3:c.T2C:p.M1T;ENSG00000198081:ENST00000578327:exon3:c.T2C:p.M1T;	0.645121364764704	0.62
18	5293244	A	T	18	5293245	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.T2A:p.M1K;ZBTB14:NM_001243704:exon3:c.T2A:p.M1K;ZBTB14:NM_001143823:exon3:c.T2A:p.M1K;ZBTB14:NM_001243702:exon3:c.T2A:p.M1K;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.T2A:p.M1K;ENSG00000198081:ENST00000582388:exon3:c.T2A:p.M1K;ENSG00000198081:ENST00000400143:exon2:c.T2A:p.M1K;ENSG00000198081:ENST00000582135:exon3:c.T2A:p.M1K;ENSG00000198081:ENST00000578327:exon3:c.T2A:p.M1K;	0.636940277362509	0.482
18	5293245	T	A	18	5293246	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.A1T:p.M1L;ZBTB14:NM_001243704:exon3:c.A1T:p.M1L;ZBTB14:NM_001143823:exon3:c.A1T:p.M1L;ZBTB14:NM_001243702:exon3:c.A1T:p.M1L;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.A1T:p.M1L;ENSG00000198081:ENST00000582388:exon3:c.A1T:p.M1L;ENSG00000198081:ENST00000400143:exon2:c.A1T:p.M1L;ENSG00000198081:ENST00000582135:exon3:c.A1T:p.M1L;ENSG00000198081:ENST00000578327:exon3:c.A1T:p.M1L;	0.196247085118302	0.346
18	5293245	T	C	18	5293246	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.A1G:p.M1V;ZBTB14:NM_001243704:exon3:c.A1G:p.M1V;ZBTB14:NM_001143823:exon3:c.A1G:p.M1V;ZBTB14:NM_001243702:exon3:c.A1G:p.M1V;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.A1G:p.M1V;ENSG00000198081:ENST00000582388:exon3:c.A1G:p.M1V;ENSG00000198081:ENST00000400143:exon2:c.A1G:p.M1V;ENSG00000198081:ENST00000582135:exon3:c.A1G:p.M1V;ENSG00000198081:ENST00000578327:exon3:c.A1G:p.M1V;	0.0226993526951151	0.292
18	5293245	T	G	18	5293246	y	y	exonic	ZBTB14	nonsynonymous SNV	ZBTB14:NM_003409:exon2:c.A1C:p.M1L;ZBTB14:NM_001243704:exon3:c.A1C:p.M1L;ZBTB14:NM_001143823:exon3:c.A1C:p.M1L;ZBTB14:NM_001243702:exon3:c.A1C:p.M1L;	exonic	ENSG00000198081	nonsynonymous SNV	ENSG00000198081:ENST00000357006:exon3:c.A1C:p.M1L;ENSG00000198081:ENST00000582388:exon3:c.A1C:p.M1L;ENSG00000198081:ENST00000400143:exon2:c.A1C:p.M1L;ENSG00000198081:ENST00000582135:exon3:c.A1C:p.M1L;ENSG00000198081:ENST00000578327:exon3:c.A1C:p.M1L;	7.01240012423871E-4	0.038
18	5293325	A	C	18	5293326	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	4.18754489795074E-5	0.0
18	5293325	A	G	18	5293326	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	6.26103469901138E-5	0.006
18	5293325	A	T	18	5293326	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	5.50196388933073E-5	0.0
18	5293326	C	A	18	5293327	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.278966393495801	0.406
18	5293326	C	G	18	5293327	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.00555985513268038	0.14
18	5293326	C	T	18	5293327	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.52729397284124E-4	0.042
18	5293327	C	A	18	5293328	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.99999326102676	0.766
18	5293327	C	G	18	5293328	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.99999326102676	0.764
18	5293327	C	T	18	5293328	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.99999326102676	0.766
18	5293328	T	A	18	5293329	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999980255680118	0.78
18	5293328	T	C	18	5293329	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999980255680118	0.754
18	5293328	T	G	18	5293329	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999980255680118	0.754
18	5293329	A	C	18	5293330	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.986445272173081	0.572
18	5293329	A	G	18	5293330	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	9.43492258129775E-5	0.006
18	5293329	A	T	18	5293330	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	9.92674969050486E-4	0.098
18	5293330	C	A	18	5293331	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.03640525457558E-5	0.002
18	5293330	C	G	18	5293331	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.59163071254222E-5	0.0
18	5293330	C	T	18	5293331	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.02821560390511E-5	0.002
18	5293331	A	C	18	5293332	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	9.78967903311117E-4	0.162
18	5293331	A	G	18	5293332	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.16025947989572E-4	0.03
18	5293331	A	T	18	5293332	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.997470593383187	0.882
18	5293332	G	A	18	5293333	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.667180376862E-5	0.004
18	5293332	G	C	18	5293333	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.12876708643911E-5	0.126
18	5293332	G	T	18	5293333	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.12604165014306E-4	0.116
18	5293333	A	C	18	5293334	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.15562197058128E-4	0.02
18	5293333	A	G	18	5293334	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.93863882817529E-5	0.002
18	5293333	A	T	18	5293334	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.37708893457402E-4	0.016
18	5293334	G	A	18	5293335	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.10773746970948E-5	0.0
18	5293334	G	C	18	5293335	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.07587733396865E-5	0.014
18	5293334	G	T	18	5293335	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	4.22259538179216E-5	0.01
18	5293335	G	A	18	5293336	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.89405177378157E-5	0.0
18	5293335	G	C	18	5293336	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.25796377578258E-4	0.046
18	5293335	G	T	18	5293336	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.25796377578258E-4	0.038
18	5293336	A	C	18	5293337	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.57795779038196E-4	0.172
18	5293336	A	G	18	5293337	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.34734331864732E-4	0.014
18	5293336	A	T	18	5293337	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.09932696037906E-4	0.202
18	5293337	A	C	18	5293338	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.820128281214553	0.588
18	5293337	A	G	18	5293338	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.790541465760756	0.464
18	5293337	A	T	18	5293338	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.866057305238535	0.696
18	5293338	A	C	18	5293339	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00421764616913459	0.196
18	5293338	A	G	18	5293339	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00226471010978903	0.08
18	5293338	A	T	18	5293339	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00386087167133281	0.262
18	5293963	A	C	18	5293964	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.81984393052081E-4	0.018
18	5293963	A	G	18	5293964	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.81984393052081E-4	0.01
18	5293963	A	T	18	5293964	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00163920954224159	0.01
18	5293964	C	A	18	5293965	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.82685551969961E-5	0.008
18	5293964	C	G	18	5293965	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.82685551969961E-5	0.01
18	5293964	C	T	18	5293965	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.82685551969961E-5	0.008
18	5293965	T	A	18	5293966	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.82606926020013E-5	0.006
18	5293965	T	C	18	5293966	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	6.33185107280076E-5	0.002
18	5293965	T	G	18	5293966	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.0054919607128E-4	0.012
18	5293966	C	A	18	5293967	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.99742007478551	0.702
18	5293966	C	G	18	5293967	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.998678778723439	0.818
18	5293966	C	T	18	5293967	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.986060272433248	0.65
18	5293967	T	A	18	5293968	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.242795682561681	0.346
18	5293967	T	C	18	5293968	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.499357122545285	0.352
18	5293967	T	G	18	5293968	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.202630381993	0.368
18	5293968	T	A	18	5293969	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.990828405584629	0.744
18	5293968	T	C	18	5293969	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	9.14502362242254E-4	0.042
18	5293968	T	G	18	5293969	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.98003669070541	0.778
18	5293969	A	C	18	5293970	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999980255680118	0.766
18	5293969	A	G	18	5293970	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999025347591561	0.756
18	5293969	A	T	18	5293970	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999962958601995	0.796
18	5293970	C	A	18	5293971	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999675980822773	0.526
18	5293970	C	G	18	5293971	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999675980822773	0.542
18	5293970	C	T	18	5293971	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.99985360958597	0.538
18	5293971	C	A	18	5293972	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.999020665444619	0.92
18	5293971	C	G	18	5293972	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.999890098578184	0.802
18	5293971	C	T	18	5293972	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.994905351363508	0.814
18	5293972	G	A	18	5293973	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	4.22589548202191E-5	0.024
18	5293972	G	C	18	5293973	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.83412751152422E-5	0.0
18	5293972	G	T	18	5293973	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.57751696721367E-5	0.048
18	5293973	G	A	18	5293974	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.85265623743606E-4	0.018
18	5293973	G	C	18	5293974	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.51719403425085E-5	0.002
18	5293973	G	T	18	5293974	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	2.38741001513527E-5	0.008
18	5293999	T	A	18	5294000	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.6262849731022E-5	0.022
18	5293999	T	C	18	5294000	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	5.1242712671125E-5	0.03
18	5293999	T	G	18	5294000	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	8.22067495814014E-5	0.002
18	5294000	C	A	18	5294001	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.157148886412493	0.348
18	5294000	C	G	18	5294001	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.00507312427445297	0.178
18	5294000	C	T	18	5294001	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	5.43443809393565E-4	0.082
18	5294001	C	A	18	5294002	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999834859377364	0.87
18	5294001	C	G	18	5294002	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999834859377364	0.854
18	5294001	C	T	18	5294002	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999834859377364	0.86
18	5294002	T	A	18	5294003	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999984298712381	0.932
18	5294002	T	C	18	5294003	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999983751017103	0.906
18	5294002	T	G	18	5294003	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999983751017103	0.912
18	5294003	G	A	18	5294004	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.94228785015889E-4	0.044
18	5294003	G	C	18	5294004	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.988170450388304	0.842
18	5294003	G	T	18	5294004	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.31536832887211	0.452
18	5294004	A	C	18	5294005	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00286650153673436	0.082
18	5294004	A	G	18	5294005	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00786308361751358	0.062
18	5294004	A	T	18	5294005	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0180146225940863	0.102
18	5294005	A	C	18	5294006	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.246531737105826	0.324
18	5294005	A	G	18	5294006	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0300426632453852	0.13
18	5294005	A	T	18	5294006	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0944334115845318	0.29
18	5294006	A	C	18	5294007	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0271044657581941	0.262
18	5294006	A	G	18	5294007	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.60511092194476E-4	0.022
18	5294006	A	T	18	5294007	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0479452850517276	0.212
18	5294007	A	C	18	5294008	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00587538649690041	0.13
18	5294007	A	G	18	5294008	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00201109787080338	0.026
18	5294007	A	T	18	5294008	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0751370713488228	0.168
18	5294008	A	C	18	5294009	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00263424950708984	0.1
18	5294008	A	G	18	5294009	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.12710235869844E-4	0.028
18	5294008	A	T	18	5294009	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00727179175668487	0.188
18	5294009	C	A	18	5294010	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.70645247914682E-4	0.066
18	5294009	C	G	18	5294010	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.87139894061694E-4	0.05
18	5294009	C	T	18	5294010	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0021730439241212	0.036
18	5294010	A	C	18	5294011	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0194681109462689	0.172
18	5294010	A	G	18	5294011	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.94287378258108E-4	0.062
18	5294010	A	T	18	5294011	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.999680736097753	0.956
18	5294011	A	C	18	5294012	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00274185638280238	0.158
18	5294011	A	G	18	5294012	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.95027148760102E-4	0.048
18	5294011	A	T	18	5294012	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00661937373553466	0.206
18	5294012	A	C	18	5294013	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00385831655297981	0.058
18	5294012	A	G	18	5294013	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00175125979421715	0.03
18	5294012	A	T	18	5294013	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00906620123300742	0.096
18	5294792	A	C	18	5294793	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.62952235646605E-4	0.06
18	5294792	A	G	18	5294793	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.62952235646605E-4	0.052
18	5294792	A	T	18	5294793	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.9871184980609E-5	0.032
18	5294793	A	C	18	5294794	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.27469819831474E-4	0.0
18	5294793	A	G	18	5294794	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.27469819831474E-4	0.0
18	5294793	A	T	18	5294794	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.27469819831474E-4	0.0
18	5294794	A	C	18	5294795	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00544018778535048	0.066
18	5294794	A	G	18	5294795	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00544018778535048	0.066
18	5294794	A	T	18	5294795	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00544018778535048	0.074
18	5294795	C	A	18	5294796	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.613701928416554	0.574
18	5294795	C	G	18	5294796	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.440341893896049	0.552
18	5294795	C	T	18	5294796	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.643635037366171	0.658
18	5294796	T	A	18	5294797	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00791922812082042	0.11
18	5294796	T	C	18	5294797	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00544018778535048	0.064
18	5294796	T	G	18	5294797	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00544018778535048	0.064
18	5294797	T	A	18	5294798	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00791922812082042	0.096
18	5294797	T	C	18	5294798	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00544018778535048	0.064
18	5294797	T	G	18	5294798	n	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00544018778535048	0.064
18	5294798	A	C	18	5294799	n	y	intronic	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.0212891680771992	0.144
18	5294798	A	G	18	5294799	n	y	intronic	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.0212891680771992	0.144
18	5294798	A	T	18	5294799	n	y	intronic	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.0277333685228789	0.156
18	5294799	C	A	18	5294800	n	y	intronic	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.00200487224158428	0.102
18	5294799	C	G	18	5294800	n	y	intronic	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.00137470024442694	0.08
18	5294799	C	T	18	5294800	n	y	intronic	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.00235249597516193	0.134
18	5294800	A	C	18	5294801	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.424690568096756	0.704
18	5294800	A	G	18	5294801	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.424690568096756	0.704
18	5294800	A	T	18	5294801	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.424690568096756	0.728
18	5294801	T	A	18	5294802	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.44503631017368E-5	0.046
18	5294801	T	C	18	5294802	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.44503631017368E-5	0.03
18	5294801	T	G	18	5294802	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.44503631017368E-5	0.03
18	5294802	A	C	18	5294803	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.358673873915936	0.686
18	5294802	A	G	18	5294803	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.358673873915936	0.686
18	5294802	A	T	18	5294803	n	y	intronic	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.423095093862753	0.7
18	5295643	G	A	18	5295644	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.73866247790034E-4	0.008
18	5295643	G	C	18	5295644	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.92214416807547E-4	0.008
18	5295643	G	T	18	5295644	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.73866247790034E-4	0.016
18	5295644	C	A	18	5295645	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.92214416807547E-4	0.008
18	5295644	C	G	18	5295645	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.92214416807547E-4	0.008
18	5295644	C	T	18	5295645	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.73866247790034E-4	0.01
18	5295645	T	A	18	5295646	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.54628649508303E-4	0.034
18	5295645	T	C	18	5295646	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.92045261275815E-4	0.036
18	5295645	T	G	18	5295646	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	3.92045261275815E-4	0.036
18	5295646	C	A	18	5295647	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.0462080419453E-4	0.01
18	5295646	C	G	18	5295647	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.0462080419453E-4	0.018
18	5295646	C	T	18	5295647	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.0462080419453E-4	0.016
18	5295647	G	A	18	5295648	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.73866247790034E-4	0.008
18	5295647	G	C	18	5295648	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.92214416807547E-4	0.008
18	5295647	G	T	18	5295648	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.73866247790034E-4	0.01
18	5295648	C	A	18	5295649	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.85635742619133E-4	0.008
18	5295648	C	G	18	5295649	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.0462080419453E-4	0.01
18	5295648	C	T	18	5295649	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.60697810963815E-4	0.008
18	5295649	A	C	18	5295650	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	4.22030473629685E-4	0.036
18	5295649	A	G	18	5295650	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	3.80202266358009E-4	0.032
18	5295649	A	T	18	5295650	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	5.84407914197608E-4	0.076
18	5295650	C	A	18	5295651	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	1.73866247790034E-4	0.008
18	5295650	C	G	18	5295651	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	1.73866247790034E-4	0.008
18	5295650	C	T	18	5295651	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	1.73866247790034E-4	0.008
18	5295651	C	A	18	5295652	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.85635742619133E-4	0.008
18	5295651	C	G	18	5295652	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	2.0462080419453E-4	0.01
18	5295651	C	T	18	5295652	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.85635742619133E-4	0.008
18	5295652	G	A	18	5295653	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.85635742619133E-4	0.008
18	5295652	G	C	18	5295653	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	2.0462080419453E-4	0.012
18	5295652	G	T	18	5295653	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.85635742619133E-4	0.008
18	5295653	C	A	18	5295654	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.92214416807547E-4	0.008
18	5295653	C	G	18	5295654	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.92214416807547E-4	0.008
18	5295653	C	T	18	5295654	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.73866247790034E-4	0.016
18	5295804	G	A	18	5295805	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	7.92135029136884E-4	0.026
18	5295804	G	C	18	5295805	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00246951062688554	0.052
18	5295804	G	T	18	5295805	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00246951062688554	0.054
18	5295805	C	A	18	5295806	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00747404769903806	0.104
18	5295805	C	G	18	5295806	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0178771422325693	0.114
18	5295805	C	T	18	5295806	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0471798347748331	0.15
18	5295806	G	A	18	5295807	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0156524130038683	0.186
18	5295806	G	C	18	5295807	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0589622539318903	0.18
18	5295806	G	T	18	5295807	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0501451978789014	0.246
18	5295807	C	A	18	5295808	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.998589908499383	0.728
18	5295807	C	G	18	5295808	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.997231934453853	0.824
18	5295807	C	T	18	5295808	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.99851588727493	0.85
18	5295808	T	A	18	5295809	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.730829187350271	0.614
18	5295808	T	C	18	5295809	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.857583263758532	0.632
18	5295808	T	G	18	5295809	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.489088494309929	0.594
18	5295809	T	A	18	5295810	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.993938177346437	0.864
18	5295809	T	C	18	5295810	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.0315320937002375	0.18
18	5295809	T	G	18	5295810	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.997467775748187	0.892
18	5295810	A	C	18	5295811	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999987827144185	0.896
18	5295810	A	G	18	5295811	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.528921810811531	0.552
18	5295810	A	T	18	5295811	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999990629064744	0.894
18	5295811	C	A	18	5295812	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999990155693597	0.926
18	5295811	C	G	18	5295812	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999990155693597	0.926
18	5295811	C	T	18	5295812	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	0.999990155693597	0.926
18	5295812	C	A	18	5295813	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.95256726473113	0.694
18	5295812	C	G	18	5295813	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.933666908884237	0.642
18	5295812	C	T	18	5295813	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.666182678231973	0.49
18	5295813	T	A	18	5295814	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.842288182559671	0.578
18	5295813	T	C	18	5295814	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.918340707868341	0.848
18	5295813	T	G	18	5295814	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.860063584489825	0.764
18	5295814	G	A	18	5295815	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.664515811845177	0.298
18	5295814	G	C	18	5295815	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.0193697639804041	0.212
18	5295814	G	T	18	5295815	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	0.120376873710361	0.298
18	5297003	C	A	18	5297004	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.4526981183854E-4	0.066
18	5297003	C	G	18	5297004	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.64731380187714E-4	0.07
18	5297003	C	T	18	5297004	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	2.47920785120463E-4	0.066
18	5297004	T	A	18	5297005	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.40839623268995E-5	0.0
18	5297004	T	C	18	5297005	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.40839623268995E-5	0.0
18	5297004	T	G	18	5297005	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.40839623268995E-5	0.0
18	5297005	G	A	18	5297006	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.40839623268995E-5	0.0
18	5297005	G	C	18	5297006	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.40839623268995E-5	0.0
18	5297005	G	T	18	5297006	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.40839623268995E-5	0.0
18	5297006	C	A	18	5297007	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.86764315709017E-5	0.0
18	5297006	C	G	18	5297007	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	1.86764315709017E-5	0.0
18	5297006	C	T	18	5297007	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	5.01212398005583E-5	0.0
18	5297007	T	A	18	5297008	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.18429645671592E-5	0.002
18	5297007	T	C	18	5297008	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.18429645671592E-5	0.002
18	5297007	T	G	18	5297008	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	8.18429645671592E-5	0.002
18	5297008	C	A	18	5297009	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00394509756776488	0.018
18	5297008	C	G	18	5297009	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00221383729716223	0.016
18	5297008	C	T	18	5297009	y	y	intronic	ZBTB14	.	.	intronic	ENSG00000198081	.	.	0.00388147229820857	0.014
18	5297009	A	C	18	5297010	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	8.49702646665041E-5	0.004
18	5297009	A	G	18	5297010	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	8.49702646665041E-5	0.004
18	5297009	A	T	18	5297010	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	6.35428655471156E-5	0.012
18	5297010	C	A	18	5297011	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	3.69930370103191E-5	0.0
18	5297010	C	G	18	5297011	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	3.69930370103191E-5	0.0
18	5297010	C	T	18	5297011	y	y	splicing	ZBTB14	.	.	splicing	ENSG00000198081	.	.	3.69930370103191E-5	0.0
18	5297011	C	A	18	5297012	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.09404615887614E-4	0.002
18	5297011	C	G	18	5297012	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	6.68256441675417E-5	0.0
18	5297011	C	T	18	5297012	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	1.09404615887614E-4	0.002
18	5297012	G	A	18	5297013	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.90066968634554E-5	0.002
18	5297012	G	C	18	5297013	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.90066968634554E-5	0.004
18	5297012	G	T	18	5297013	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	3.90066968634554E-5	0.004
18	5297013	A	C	18	5297014	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	6.25950167179411E-5	0.0
18	5297013	A	G	18	5297014	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	6.25950167179411E-5	0.0
18	5297013	A	T	18	5297014	y	y	UTR5	ZBTB14	.	.	UTR5	ENSG00000198081	.	.	6.25950167179411E-5	0.0
18	5393476	T	A	18	5393477	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon21:c.A2648T:p.E883V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000544123:exon21:c.A2648T:p.E883V;	0.0356987444171369	0.18
18	5393476	T	C	18	5393477	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon21:c.A2648G:p.E883G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000544123:exon21:c.A2648G:p.E883G;	0.0845358141568321	0.272
18	5393476	T	G	18	5393477	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon21:c.A2648C:p.E883A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000544123:exon21:c.A2648C:p.E883A;	0.100911316911942	0.258
18	5393477	C	A	18	5393478	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281533:exon21:c.G2647T:p.E883X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000544123:exon21:c.G2647T:p.E883X;	0.999928149182272	0.984
18	5393477	C	G	18	5393478	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon21:c.G2647C:p.E883Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000544123:exon21:c.G2647C:p.E883Q;	0.999844179776826	0.992
18	5393477	C	T	18	5393478	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon21:c.G2647A:p.E883K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000544123:exon21:c.G2647A:p.E883K;	0.999165184401222	0.88
18	5393478	C	A	18	5393479	y	y	splicing	EPB41L3(NM_001281535:exon23:c.2278-1G>T;NM_001281533:exon22:c.2647-1G>T;NM_012307:exon24:c.3271-1G>T;NM_001281534:exon21:c.2605-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon24:c.3271-1G>T;ENST00000544123:exon22:c.2647-1G>T;ENST00000540638:exon21:c.2605-1G>T;ENST00000427684:exon12:c.1162-1G>T;ENST00000542146:exon12:c.1186-1G>T)	.	.	0.999974090184857	0.936
18	5393478	C	G	18	5393479	y	y	splicing	EPB41L3(NM_001281535:exon23:c.2278-1G>C;NM_001281533:exon22:c.2647-1G>C;NM_012307:exon24:c.3271-1G>C;NM_001281534:exon21:c.2605-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon24:c.3271-1G>C;ENST00000544123:exon22:c.2647-1G>C;ENST00000540638:exon21:c.2605-1G>C;ENST00000427684:exon12:c.1162-1G>C;ENST00000542146:exon12:c.1186-1G>C)	.	.	0.999974090184857	0.934
18	5393478	C	T	18	5393479	y	y	splicing	EPB41L3(NM_001281535:exon23:c.2278-1G>A;NM_001281533:exon22:c.2647-1G>A;NM_012307:exon24:c.3271-1G>A;NM_001281534:exon21:c.2605-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon24:c.3271-1G>A;ENST00000544123:exon22:c.2647-1G>A;ENST00000540638:exon21:c.2605-1G>A;ENST00000427684:exon12:c.1162-1G>A;ENST00000542146:exon12:c.1186-1G>A)	.	.	0.999985532734767	0.936
18	5393479	T	A	18	5393480	y	y	splicing	EPB41L3(NM_001281535:exon23:c.2278-2A>T;NM_001281533:exon22:c.2647-2A>T;NM_012307:exon24:c.3271-2A>T;NM_001281534:exon21:c.2605-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon24:c.3271-2A>T;ENST00000544123:exon22:c.2647-2A>T;ENST00000540638:exon21:c.2605-2A>T;ENST00000427684:exon12:c.1162-2A>T;ENST00000542146:exon12:c.1186-2A>T)	.	.	0.99994568797423	0.926
18	5393479	T	C	18	5393480	y	y	splicing	EPB41L3(NM_001281535:exon23:c.2278-2A>G;NM_001281533:exon22:c.2647-2A>G;NM_012307:exon24:c.3271-2A>G;NM_001281534:exon21:c.2605-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon24:c.3271-2A>G;ENST00000544123:exon22:c.2647-2A>G;ENST00000540638:exon21:c.2605-2A>G;ENST00000427684:exon12:c.1162-2A>G;ENST00000542146:exon12:c.1186-2A>G)	.	.	0.99994568797423	0.93
18	5393479	T	G	18	5393480	y	y	splicing	EPB41L3(NM_001281535:exon23:c.2278-2A>C;NM_001281533:exon22:c.2647-2A>C;NM_012307:exon24:c.3271-2A>C;NM_001281534:exon21:c.2605-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon24:c.3271-2A>C;ENST00000544123:exon22:c.2647-2A>C;ENST00000540638:exon21:c.2605-2A>C;ENST00000427684:exon12:c.1162-2A>C;ENST00000542146:exon12:c.1186-2A>C)	.	.	0.99994568797423	0.93
18	5393480	G	A	18	5393481	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0348714689393682	0.198
18	5393480	G	C	18	5393481	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999399999704563	0.904
18	5393480	G	T	18	5393481	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.976205157245554	0.638
18	5393481	C	A	18	5393482	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.17486155721189E-5	0.0
18	5393481	C	G	18	5393482	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.55646805974821E-5	0.002
18	5393481	C	T	18	5393482	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.42667640437471E-5	0.002
18	5393482	A	C	18	5393483	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00723306357637048	0.258
18	5393482	A	G	18	5393483	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.75956194464944E-5	0.018
18	5393482	A	T	18	5393483	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998306631601828	0.852
18	5393483	A	C	18	5393484	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00328275514024684	0.106
18	5393483	A	G	18	5393484	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.70877796315005E-5	0.01
18	5393483	A	T	18	5393484	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00368663140274154	0.116
18	5393484	A	C	18	5393485	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.31656361320734E-4	0.036
18	5393484	A	G	18	5393485	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.20664718013109E-5	0.052
18	5393484	A	T	18	5393485	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.51086457645135E-4	0.01
18	5393485	A	C	18	5393486	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.06811393908673E-4	0.136
18	5393485	A	G	18	5393486	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.48931446884054E-5	0.016
18	5393485	A	T	18	5393486	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.52881272733128E-4	0.08
18	5393486	A	C	18	5393487	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.87071058294601E-4	0.124
18	5393486	A	G	18	5393487	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.61317583009423E-4	0.018
18	5393486	A	T	18	5393487	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00413613975056936	0.096
18	5393487	A	C	18	5393488	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0246862746578093	0.222
18	5393487	A	G	18	5393488	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.0939280784722E-4	0.008
18	5393487	A	T	18	5393488	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0144653602741448	0.19
18	5393488	G	A	18	5393489	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.20457740622441E-4	0.008
18	5393488	G	C	18	5393489	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.24193660902458E-4	0.05
18	5393488	G	T	18	5393489	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.04459667533288E-4	0.082
18	5393489	A	C	18	5393490	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0563541188077734	0.324
18	5393489	A	G	18	5393490	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00328742070930929	0.204
18	5393489	A	T	18	5393490	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0492666955586709	0.366
18	5394668	C	A	18	5394669	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0106156268955022	0.104
18	5394668	C	G	18	5394669	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.011693475196794	0.076
18	5394668	C	T	18	5394669	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0165868220331515	0.1
18	5394669	C	A	18	5394670	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.173776522579095	0.284
18	5394669	C	G	18	5394670	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0591958735645483	0.246
18	5394669	C	T	18	5394670	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.680462057151174	0.466
18	5394670	T	A	18	5394671	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00182377554117346	0.108
18	5394670	T	C	18	5394671	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00199495088070405	0.068
18	5394670	T	G	18	5394671	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0339783717903419	0.09
18	5394671	C	A	18	5394672	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999391334226156	0.736
18	5394671	C	G	18	5394672	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999442727273088	0.828
18	5394671	C	T	18	5394672	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99996691820689	0.742
18	5394672	T	A	18	5394673	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998262588333727	0.892
18	5394672	T	C	18	5394673	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99935180195487	0.88
18	5394672	T	G	18	5394673	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998687227337816	0.894
18	5394673	T	A	18	5394674	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.994798534853666	0.834
18	5394673	T	C	18	5394674	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.325655709144635	0.48
18	5394673	T	G	18	5394674	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.994084087523235	0.878
18	5394674	A	C	18	5394675	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2277+2T>G;NM_012307:exon23:c.3270+2T>G;NM_001281534:exon20:c.2604+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3270+2T>G;ENST00000540638:exon20:c.2604+2T>G;ENST00000427684:exon11:c.1161+2T>G;ENST00000542146:exon11:c.1185+2T>G)	.	.	0.999988247793601	0.932
18	5394674	A	G	18	5394675	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2277+2T>C;NM_012307:exon23:c.3270+2T>C;NM_001281534:exon20:c.2604+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3270+2T>C;ENST00000540638:exon20:c.2604+2T>C;ENST00000427684:exon11:c.1161+2T>C;ENST00000542146:exon11:c.1185+2T>C)	.	.	0.99340600729494	0.706
18	5394674	A	T	18	5394675	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2277+2T>A;NM_012307:exon23:c.3270+2T>A;NM_001281534:exon20:c.2604+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3270+2T>A;ENST00000540638:exon20:c.2604+2T>A;ENST00000427684:exon11:c.1161+2T>A;ENST00000542146:exon11:c.1185+2T>A)	.	.	0.999988247793601	0.932
18	5394675	C	A	18	5394676	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2277+1G>T;NM_012307:exon23:c.3270+1G>T;NM_001281534:exon20:c.2604+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3270+1G>T;ENST00000540638:exon20:c.2604+1G>T;ENST00000427684:exon11:c.1161+1G>T;ENST00000542146:exon11:c.1185+1G>T)	.	.	0.999985532734767	0.938
18	5394675	C	G	18	5394676	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2277+1G>C;NM_012307:exon23:c.3270+1G>C;NM_001281534:exon20:c.2604+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3270+1G>C;ENST00000540638:exon20:c.2604+1G>C;ENST00000427684:exon11:c.1161+1G>C;ENST00000542146:exon11:c.1185+1G>C)	.	.	0.999985532734767	0.938
18	5394675	C	T	18	5394676	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2277+1G>A;NM_012307:exon23:c.3270+1G>A;NM_001281534:exon20:c.2604+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3270+1G>A;ENST00000540638:exon20:c.2604+1G>A;ENST00000427684:exon11:c.1161+1G>A;ENST00000542146:exon11:c.1185+1G>A)	.	.	0.999985532734767	0.938
18	5394676	C	A	18	5394677	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.999779866305324	0.906
18	5394676	C	G	18	5394677	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.999944807482877	0.94
18	5394676	C	T	18	5394677	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.999964002679886	0.972
18	5394677	T	A	18	5394678	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.995351745308804	0.858
18	5394677	T	C	18	5394678	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.995159172802972	0.902
18	5394677	T	G	18	5394678	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.993373196039667	0.882
18	5394678	C	A	18	5394679	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.00279893605042833	0.114
18	5394678	C	G	18	5394679	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	3.49386052954502E-4	0.082
18	5394678	C	T	18	5394679	y	y	UTR3	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	6.08502862992635E-4	0.076
18	5394791	G	A	18	5394792	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon19:c.C2489T:p.A830V;EPB41L3:NM_001281535:exon21:c.C2162T:p.A721V;EPB41L3:NM_012307:exon22:c.C3155T:p.A1052V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon10:c.C1046T:p.A349V;ENSG00000082397:ENST00000342933:exon22:c.C3155T:p.A1052V;ENSG00000082397:ENST00000341928:exon22:c.C3155T:p.A1052V;ENSG00000082397:ENST00000540638:exon19:c.C2489T:p.A830V;ENSG00000082397:ENST00000542146:exon10:c.C1070T:p.A357V;ENSG00000082397:ENST00000400111:exon19:c.C2489T:p.A830V;	0.986902499964265	0.86
18	5394791	G	C	18	5394792	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon19:c.C2489G:p.A830G;EPB41L3:NM_001281535:exon21:c.C2162G:p.A721G;EPB41L3:NM_012307:exon22:c.C3155G:p.A1052G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon10:c.C1046G:p.A349G;ENSG00000082397:ENST00000342933:exon22:c.C3155G:p.A1052G;ENSG00000082397:ENST00000341928:exon22:c.C3155G:p.A1052G;ENSG00000082397:ENST00000540638:exon19:c.C2489G:p.A830G;ENSG00000082397:ENST00000542146:exon10:c.C1070G:p.A357G;ENSG00000082397:ENST00000400111:exon19:c.C2489G:p.A830G;	0.983770768487044	0.872
18	5394791	G	T	18	5394792	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon19:c.C2489A:p.A830E;EPB41L3:NM_001281535:exon21:c.C2162A:p.A721E;EPB41L3:NM_012307:exon22:c.C3155A:p.A1052E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon10:c.C1046A:p.A349E;ENSG00000082397:ENST00000342933:exon22:c.C3155A:p.A1052E;ENSG00000082397:ENST00000341928:exon22:c.C3155A:p.A1052E;ENSG00000082397:ENST00000540638:exon19:c.C2489A:p.A830E;ENSG00000082397:ENST00000542146:exon10:c.C1070A:p.A357E;ENSG00000082397:ENST00000400111:exon19:c.C2489A:p.A830E;	0.992771765619716	0.806
18	5394792	C	A	18	5394793	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon19:c.G2488T:p.A830S;EPB41L3:NM_001281535:exon21:c.G2161T:p.A721S;EPB41L3:NM_012307:exon22:c.G3154T:p.A1052S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon10:c.G1045T:p.A349S;ENSG00000082397:ENST00000342933:exon22:c.G3154T:p.A1052S;ENSG00000082397:ENST00000341928:exon22:c.G3154T:p.A1052S;ENSG00000082397:ENST00000540638:exon19:c.G2488T:p.A830S;ENSG00000082397:ENST00000542146:exon10:c.G1069T:p.A357S;ENSG00000082397:ENST00000400111:exon19:c.G2488T:p.A830S;	0.999863294156822	0.98
18	5394792	C	G	18	5394793	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon19:c.G2488C:p.A830P;EPB41L3:NM_001281535:exon21:c.G2161C:p.A721P;EPB41L3:NM_012307:exon22:c.G3154C:p.A1052P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon10:c.G1045C:p.A349P;ENSG00000082397:ENST00000342933:exon22:c.G3154C:p.A1052P;ENSG00000082397:ENST00000341928:exon22:c.G3154C:p.A1052P;ENSG00000082397:ENST00000540638:exon19:c.G2488C:p.A830P;ENSG00000082397:ENST00000542146:exon10:c.G1069C:p.A357P;ENSG00000082397:ENST00000400111:exon19:c.G2488C:p.A830P;	0.999823830081682	0.952
18	5394792	C	T	18	5394793	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon19:c.G2488A:p.A830T;EPB41L3:NM_001281535:exon21:c.G2161A:p.A721T;EPB41L3:NM_012307:exon22:c.G3154A:p.A1052T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon10:c.G1045A:p.A349T;ENSG00000082397:ENST00000342933:exon22:c.G3154A:p.A1052T;ENSG00000082397:ENST00000341928:exon22:c.G3154A:p.A1052T;ENSG00000082397:ENST00000540638:exon19:c.G2488A:p.A830T;ENSG00000082397:ENST00000542146:exon10:c.G1069A:p.A357T;ENSG00000082397:ENST00000400111:exon19:c.G2488A:p.A830T;	0.999931631846754	0.934
18	5394793	C	A	18	5394794	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2161-1G>T;NM_012307:exon23:c.3154-1G>T;NM_001281534:exon20:c.2488-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3154-1G>T;ENST00000540638:exon20:c.2488-1G>T;ENST00000427684:exon11:c.1045-1G>T;ENST00000542146:exon11:c.1069-1G>T;ENST00000400111:exon20:c.2488-1G>T;ENST00000342933:exon23:c.3154-1G>T)	.	.	0.999982627682474	0.908
18	5394793	C	G	18	5394794	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2161-1G>C;NM_012307:exon23:c.3154-1G>C;NM_001281534:exon20:c.2488-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3154-1G>C;ENST00000540638:exon20:c.2488-1G>C;ENST00000427684:exon11:c.1045-1G>C;ENST00000542146:exon11:c.1069-1G>C;ENST00000400111:exon20:c.2488-1G>C;ENST00000342933:exon23:c.3154-1G>C)	.	.	0.999982627682474	0.908
18	5394793	C	T	18	5394794	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2161-1G>A;NM_012307:exon23:c.3154-1G>A;NM_001281534:exon20:c.2488-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3154-1G>A;ENST00000540638:exon20:c.2488-1G>A;ENST00000427684:exon11:c.1045-1G>A;ENST00000542146:exon11:c.1069-1G>A;ENST00000400111:exon20:c.2488-1G>A;ENST00000342933:exon23:c.3154-1G>A)	.	.	0.999982627682474	0.908
18	5394794	T	A	18	5394795	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2161-2A>T;NM_012307:exon23:c.3154-2A>T;NM_001281534:exon20:c.2488-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3154-2A>T;ENST00000540638:exon20:c.2488-2A>T;ENST00000427684:exon11:c.1045-2A>T;ENST00000542146:exon11:c.1069-2A>T;ENST00000400111:exon20:c.2488-2A>T;ENST00000342933:exon23:c.3154-2A>T)	.	.	0.999979394981131	0.914
18	5394794	T	C	18	5394795	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2161-2A>G;NM_012307:exon23:c.3154-2A>G;NM_001281534:exon20:c.2488-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3154-2A>G;ENST00000540638:exon20:c.2488-2A>G;ENST00000427684:exon11:c.1045-2A>G;ENST00000542146:exon11:c.1069-2A>G;ENST00000400111:exon20:c.2488-2A>G;ENST00000342933:exon23:c.3154-2A>G)	.	.	0.999979394981131	0.914
18	5394794	T	G	18	5394795	y	y	splicing	EPB41L3(NM_001281535:exon22:c.2161-2A>C;NM_012307:exon23:c.3154-2A>C;NM_001281534:exon20:c.2488-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon23:c.3154-2A>C;ENST00000540638:exon20:c.2488-2A>C;ENST00000427684:exon11:c.1045-2A>C;ENST00000542146:exon11:c.1069-2A>C;ENST00000400111:exon20:c.2488-2A>C;ENST00000342933:exon23:c.3154-2A>C)	.	.	0.999979394981131	0.914
18	5394795	A	C	18	5394796	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.99786158712776	0.798
18	5394795	A	G	18	5394796	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	3.23788855265033E-4	0.082
18	5394795	A	T	18	5394796	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.980739517857827	0.636
18	5394796	T	A	18	5394797	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.00169033370820435	0.096
18	5394796	T	C	18	5394797	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	7.60076283143302E-4	0.07
18	5394796	T	G	18	5394797	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	5.43731053779786E-4	0.066
18	5394797	C	A	18	5394798	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.931337676334101	0.564
18	5394797	C	G	18	5394798	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.877300509999622	0.606
18	5394797	C	T	18	5394798	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.985837214412559	0.708
18	5394798	C	A	18	5394799	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.225321219491756	0.448
18	5394798	C	G	18	5394799	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.387149540936331	0.388
18	5394798	C	T	18	5394799	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.999949981995203	0.944
18	5394799	C	A	18	5394800	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.498873346268495	0.464
18	5394799	C	G	18	5394800	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.467325369284698	0.468
18	5394799	C	T	18	5394800	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.99992680858645	0.936
18	5394800	C	A	18	5394801	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.00852069126662399	0.126
18	5394800	C	G	18	5394801	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.00954873881962801	0.102
18	5394800	C	T	18	5394801	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.999633590695719	0.976
18	5394801	G	A	18	5394802	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	2.1845237076792E-5	0.036
18	5394801	G	C	18	5394802	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.00231393000462935	0.126
18	5394801	G	T	18	5394802	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.99941741484236	0.906
18	5394802	G	A	18	5394803	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.0734071018014934	0.252
18	5394802	G	C	18	5394803	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.100007445261928	0.272
18	5394802	G	T	18	5394803	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.264744302630385	0.34
18	5394803	G	A	18	5394804	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.957317523682655	0.598
18	5394803	G	C	18	5394804	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.9096666177085	0.646
18	5394803	G	T	18	5394804	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.966142044209039	0.65
18	5394804	A	C	18	5394805	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.819197652342631	0.694
18	5394804	A	G	18	5394805	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.0441561657049022	0.338
18	5394804	A	T	18	5394805	y	y	intronic	EPB41L3	.	.	UTR3	ENSG00000082397	.	.	0.974990706912238	0.848
18	5395058	C	A	18	5395059	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	3.73704707159799E-5	0.0
18	5395058	C	G	18	5395059	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	7.74987344478751E-5	0.0
18	5395058	C	T	18	5395059	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	5.05654314630052E-5	0.006
18	5395059	A	C	18	5395060	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	1.04880898606558E-4	0.006
18	5395059	A	G	18	5395060	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	4.57491786523094E-4	0.034
18	5395059	A	T	18	5395060	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	2.3856118596051E-4	0.006
18	5395060	C	A	18	5395061	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	2.68519596707706E-4	0.03
18	5395060	C	G	18	5395061	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	3.45928209457682E-4	0.002
18	5395060	C	T	18	5395061	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	6.82567542736069E-5	0.032
18	5395061	A	C	18	5395062	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	3.55799774041135E-4	0.056
18	5395061	A	G	18	5395062	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	6.42187149359614E-5	0.018
18	5395061	A	T	18	5395062	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	1.2263513007748E-4	0.012
18	5395062	C	A	18	5395063	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	2.27876621494907E-4	0.074
18	5395062	C	G	18	5395063	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	9.60019514924417E-4	0.37
18	5395062	C	T	18	5395063	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	4.9970977372653E-4	0.048
18	5395063	T	A	18	5395064	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	0.999965943463375	0.982
18	5395063	T	C	18	5395064	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	0.99983002676056	0.954
18	5395063	T	G	18	5395064	y	n	intronic	EPB41L3	.	.	exonic	ENSG00000082397	unknown	UNKNOWN	0.999962326558674	0.874
18	5395064	A	C	18	5395065	y	n	splicing	EPB41L3(NM_001281535:exon21:c.2160+2T>G;NM_001281533:exon21:c.2646+2T>G;NM_012307:exon22:c.3153+2T>G;NM_001281534:exon19:c.2487+2T>G)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon22:c.3153+2T>G;ENST00000544123:exon21:c.2646+2T>G;ENST00000540638:exon19:c.2487+2T>G;ENST00000427684:exon10:c.1044+2T>G;ENST00000542146:exon10:c.1068+2T>G;ENST00000400111:exon19:c.2487+2T>G;ENST00000342933:exon22:c.3153+2T>G)	unknown	UNKNOWN	0.999988247793601	0.93
18	5395064	A	G	18	5395065	y	n	splicing	EPB41L3(NM_001281535:exon21:c.2160+2T>C;NM_001281533:exon21:c.2646+2T>C;NM_012307:exon22:c.3153+2T>C;NM_001281534:exon19:c.2487+2T>C)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon22:c.3153+2T>C;ENST00000544123:exon21:c.2646+2T>C;ENST00000540638:exon19:c.2487+2T>C;ENST00000427684:exon10:c.1044+2T>C;ENST00000542146:exon10:c.1068+2T>C;ENST00000400111:exon19:c.2487+2T>C;ENST00000342933:exon22:c.3153+2T>C)	unknown	UNKNOWN	0.995320650369382	0.71
18	5395064	A	T	18	5395065	y	n	splicing	EPB41L3(NM_001281535:exon21:c.2160+2T>A;NM_001281533:exon21:c.2646+2T>A;NM_012307:exon22:c.3153+2T>A;NM_001281534:exon19:c.2487+2T>A)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon22:c.3153+2T>A;ENST00000544123:exon21:c.2646+2T>A;ENST00000540638:exon19:c.2487+2T>A;ENST00000427684:exon10:c.1044+2T>A;ENST00000542146:exon10:c.1068+2T>A;ENST00000400111:exon19:c.2487+2T>A;ENST00000342933:exon22:c.3153+2T>A)	unknown	UNKNOWN	0.999988247793601	0.93
18	5395065	C	A	18	5395066	y	n	splicing	EPB41L3(NM_001281535:exon21:c.2160+1G>T;NM_001281533:exon21:c.2646+1G>T;NM_012307:exon22:c.3153+1G>T;NM_001281534:exon19:c.2487+1G>T)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon22:c.3153+1G>T;ENST00000544123:exon21:c.2646+1G>T;ENST00000540638:exon19:c.2487+1G>T;ENST00000427684:exon10:c.1044+1G>T;ENST00000542146:exon10:c.1068+1G>T;ENST00000400111:exon19:c.2487+1G>T;ENST00000342933:exon22:c.3153+1G>T)	unknown	UNKNOWN	0.999990361384395	0.938
18	5395065	C	G	18	5395066	y	n	splicing	EPB41L3(NM_001281535:exon21:c.2160+1G>C;NM_001281533:exon21:c.2646+1G>C;NM_012307:exon22:c.3153+1G>C;NM_001281534:exon19:c.2487+1G>C)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon22:c.3153+1G>C;ENST00000544123:exon21:c.2646+1G>C;ENST00000540638:exon19:c.2487+1G>C;ENST00000427684:exon10:c.1044+1G>C;ENST00000542146:exon10:c.1068+1G>C;ENST00000400111:exon19:c.2487+1G>C;ENST00000342933:exon22:c.3153+1G>C)	unknown	UNKNOWN	0.999990361384395	0.938
18	5395065	C	T	18	5395066	y	n	splicing	EPB41L3(NM_001281535:exon21:c.2160+1G>A;NM_001281533:exon21:c.2646+1G>A;NM_012307:exon22:c.3153+1G>A;NM_001281534:exon19:c.2487+1G>A)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon22:c.3153+1G>A;ENST00000544123:exon21:c.2646+1G>A;ENST00000540638:exon19:c.2487+1G>A;ENST00000427684:exon10:c.1044+1G>A;ENST00000542146:exon10:c.1068+1G>A;ENST00000400111:exon19:c.2487+1G>A;ENST00000342933:exon22:c.3153+1G>A)	unknown	UNKNOWN	0.999990361384395	0.938
18	5395066	C	A	18	5395067	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.G2487T:p.Q829H;EPB41L3:NM_001281533:exon20:c.G2646T:p.Q882H;EPB41L3:NM_001281535:exon20:c.G2160T:p.Q720H;EPB41L3:NM_012307:exon21:c.G3153T:p.Q1051H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.G1044T:p.Q348H;ENSG00000082397:ENST00000342933:exon21:c.G3153T:p.Q1051H;ENSG00000082397:ENST00000341928:exon21:c.G3153T:p.Q1051H;ENSG00000082397:ENST00000544123:exon20:c.G2646T:p.Q882H;ENSG00000082397:ENST00000540638:exon18:c.G2487T:p.Q829H;ENSG00000082397:ENST00000542146:exon9:c.G1068T:p.Q356H;ENSG00000082397:ENST00000400111:exon18:c.G2487T:p.Q829H;	0.999994342005323	0.99
18	5395066	C	G	18	5395067	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.G2487C:p.Q829H;EPB41L3:NM_001281533:exon20:c.G2646C:p.Q882H;EPB41L3:NM_001281535:exon20:c.G2160C:p.Q720H;EPB41L3:NM_012307:exon21:c.G3153C:p.Q1051H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.G1044C:p.Q348H;ENSG00000082397:ENST00000342933:exon21:c.G3153C:p.Q1051H;ENSG00000082397:ENST00000341928:exon21:c.G3153C:p.Q1051H;ENSG00000082397:ENST00000544123:exon20:c.G2646C:p.Q882H;ENSG00000082397:ENST00000540638:exon18:c.G2487C:p.Q829H;ENSG00000082397:ENST00000542146:exon9:c.G1068C:p.Q356H;ENSG00000082397:ENST00000400111:exon18:c.G2487C:p.Q829H;	0.999997360428448	1.0
18	5395066	C	T	18	5395067	y	n	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon18:c.G2487A:p.Q829Q;EPB41L3:NM_001281533:exon20:c.G2646A:p.Q882Q;EPB41L3:NM_001281535:exon20:c.G2160A:p.Q720Q;EPB41L3:NM_012307:exon21:c.G3153A:p.Q1051Q;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.G1044A:p.Q348Q;ENSG00000082397:ENST00000342933:exon21:c.G3153A:p.Q1051Q;ENSG00000082397:ENST00000341928:exon21:c.G3153A:p.Q1051Q;ENSG00000082397:ENST00000544123:exon20:c.G2646A:p.Q882Q;ENSG00000082397:ENST00000540638:exon18:c.G2487A:p.Q829Q;ENSG00000082397:ENST00000542146:exon9:c.G1068A:p.Q356Q;ENSG00000082397:ENST00000400111:exon18:c.G2487A:p.Q829Q;	0.999983844182548	1.0
18	5395067	T	A	18	5395068	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.A2486T:p.Q829L;EPB41L3:NM_001281533:exon20:c.A2645T:p.Q882L;EPB41L3:NM_001281535:exon20:c.A2159T:p.Q720L;EPB41L3:NM_012307:exon21:c.A3152T:p.Q1051L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.A1043T:p.Q348L;ENSG00000082397:ENST00000342933:exon21:c.A3152T:p.Q1051L;ENSG00000082397:ENST00000341928:exon21:c.A3152T:p.Q1051L;ENSG00000082397:ENST00000544123:exon20:c.A2645T:p.Q882L;ENSG00000082397:ENST00000540638:exon18:c.A2486T:p.Q829L;ENSG00000082397:ENST00000542146:exon9:c.A1067T:p.Q356L;ENSG00000082397:ENST00000400111:exon18:c.A2486T:p.Q829L;	0.999977976710391	1.0
18	5395067	T	C	18	5395068	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.A2486G:p.Q829R;EPB41L3:NM_001281533:exon20:c.A2645G:p.Q882R;EPB41L3:NM_001281535:exon20:c.A2159G:p.Q720R;EPB41L3:NM_012307:exon21:c.A3152G:p.Q1051R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.A1043G:p.Q348R;ENSG00000082397:ENST00000342933:exon21:c.A3152G:p.Q1051R;ENSG00000082397:ENST00000341928:exon21:c.A3152G:p.Q1051R;ENSG00000082397:ENST00000544123:exon20:c.A2645G:p.Q882R;ENSG00000082397:ENST00000540638:exon18:c.A2486G:p.Q829R;ENSG00000082397:ENST00000542146:exon9:c.A1067G:p.Q356R;ENSG00000082397:ENST00000400111:exon18:c.A2486G:p.Q829R;	0.999978779034838	1.0
18	5395067	T	G	18	5395068	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.A2486C:p.Q829P;EPB41L3:NM_001281533:exon20:c.A2645C:p.Q882P;EPB41L3:NM_001281535:exon20:c.A2159C:p.Q720P;EPB41L3:NM_012307:exon21:c.A3152C:p.Q1051P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.A1043C:p.Q348P;ENSG00000082397:ENST00000342933:exon21:c.A3152C:p.Q1051P;ENSG00000082397:ENST00000341928:exon21:c.A3152C:p.Q1051P;ENSG00000082397:ENST00000544123:exon20:c.A2645C:p.Q882P;ENSG00000082397:ENST00000540638:exon18:c.A2486C:p.Q829P;ENSG00000082397:ENST00000542146:exon9:c.A1067C:p.Q356P;ENSG00000082397:ENST00000400111:exon18:c.A2486C:p.Q829P;	0.999978779034838	1.0
18	5395068	G	A	18	5395069	y	n	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon18:c.C2485T:p.Q829X;EPB41L3:NM_001281533:exon20:c.C2644T:p.Q882X;EPB41L3:NM_001281535:exon20:c.C2158T:p.Q720X;EPB41L3:NM_012307:exon21:c.C3151T:p.Q1051X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000427684:exon9:c.C1042T:p.Q348X;ENSG00000082397:ENST00000342933:exon21:c.C3151T:p.Q1051X;ENSG00000082397:ENST00000341928:exon21:c.C3151T:p.Q1051X;ENSG00000082397:ENST00000544123:exon20:c.C2644T:p.Q882X;ENSG00000082397:ENST00000540638:exon18:c.C2485T:p.Q829X;ENSG00000082397:ENST00000542146:exon9:c.C1066T:p.Q356X;ENSG00000082397:ENST00000400111:exon18:c.C2485T:p.Q829X;	0.999919922083202	0.996
18	5395068	G	C	18	5395069	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.C2485G:p.Q829E;EPB41L3:NM_001281533:exon20:c.C2644G:p.Q882E;EPB41L3:NM_001281535:exon20:c.C2158G:p.Q720E;EPB41L3:NM_012307:exon21:c.C3151G:p.Q1051E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.C1042G:p.Q348E;ENSG00000082397:ENST00000342933:exon21:c.C3151G:p.Q1051E;ENSG00000082397:ENST00000341928:exon21:c.C3151G:p.Q1051E;ENSG00000082397:ENST00000544123:exon20:c.C2644G:p.Q882E;ENSG00000082397:ENST00000540638:exon18:c.C2485G:p.Q829E;ENSG00000082397:ENST00000542146:exon9:c.C1066G:p.Q356E;ENSG00000082397:ENST00000400111:exon18:c.C2485G:p.Q829E;	0.980175841276966	0.718
18	5395068	G	T	18	5395069	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.C2485A:p.Q829K;EPB41L3:NM_001281533:exon20:c.C2644A:p.Q882K;EPB41L3:NM_001281535:exon20:c.C2158A:p.Q720K;EPB41L3:NM_012307:exon21:c.C3151A:p.Q1051K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.C1042A:p.Q348K;ENSG00000082397:ENST00000342933:exon21:c.C3151A:p.Q1051K;ENSG00000082397:ENST00000341928:exon21:c.C3151A:p.Q1051K;ENSG00000082397:ENST00000544123:exon20:c.C2644A:p.Q882K;ENSG00000082397:ENST00000540638:exon18:c.C2485A:p.Q829K;ENSG00000082397:ENST00000542146:exon9:c.C1066A:p.Q356K;ENSG00000082397:ENST00000400111:exon18:c.C2485A:p.Q829K;	0.967950924734523	0.792
18	5395145	G	A	18	5395146	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.C2408T:p.T803I;EPB41L3:NM_001281533:exon20:c.C2567T:p.T856I;EPB41L3:NM_001281535:exon20:c.C2081T:p.T694I;EPB41L3:NM_012307:exon21:c.C3074T:p.T1025I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.C965T:p.T322I;ENSG00000082397:ENST00000342933:exon21:c.C3074T:p.T1025I;ENSG00000082397:ENST00000341928:exon21:c.C3074T:p.T1025I;ENSG00000082397:ENST00000544123:exon20:c.C2567T:p.T856I;ENSG00000082397:ENST00000540638:exon18:c.C2408T:p.T803I;ENSG00000082397:ENST00000542146:exon9:c.C989T:p.T330I;ENSG00000082397:ENST00000400111:exon18:c.C2408T:p.T803I;	0.980460766185683	0.74
18	5395145	G	C	18	5395146	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.C2408G:p.T803S;EPB41L3:NM_001281533:exon20:c.C2567G:p.T856S;EPB41L3:NM_001281535:exon20:c.C2081G:p.T694S;EPB41L3:NM_012307:exon21:c.C3074G:p.T1025S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.C965G:p.T322S;ENSG00000082397:ENST00000342933:exon21:c.C3074G:p.T1025S;ENSG00000082397:ENST00000341928:exon21:c.C3074G:p.T1025S;ENSG00000082397:ENST00000544123:exon20:c.C2567G:p.T856S;ENSG00000082397:ENST00000540638:exon18:c.C2408G:p.T803S;ENSG00000082397:ENST00000542146:exon9:c.C989G:p.T330S;ENSG00000082397:ENST00000400111:exon18:c.C2408G:p.T803S;	0.968998577566939	0.68
18	5395145	G	T	18	5395146	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.C2408A:p.T803N;EPB41L3:NM_001281533:exon20:c.C2567A:p.T856N;EPB41L3:NM_001281535:exon20:c.C2081A:p.T694N;EPB41L3:NM_012307:exon21:c.C3074A:p.T1025N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.C965A:p.T322N;ENSG00000082397:ENST00000342933:exon21:c.C3074A:p.T1025N;ENSG00000082397:ENST00000341928:exon21:c.C3074A:p.T1025N;ENSG00000082397:ENST00000544123:exon20:c.C2567A:p.T856N;ENSG00000082397:ENST00000540638:exon18:c.C2408A:p.T803N;ENSG00000082397:ENST00000542146:exon9:c.C989A:p.T330N;ENSG00000082397:ENST00000400111:exon18:c.C2408A:p.T803N;	0.997314970032998	0.66
18	5395146	T	A	18	5395147	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.A2407T:p.T803S;EPB41L3:NM_001281533:exon20:c.A2566T:p.T856S;EPB41L3:NM_001281535:exon20:c.A2080T:p.T694S;EPB41L3:NM_012307:exon21:c.A3073T:p.T1025S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.A964T:p.T322S;ENSG00000082397:ENST00000342933:exon21:c.A3073T:p.T1025S;ENSG00000082397:ENST00000341928:exon21:c.A3073T:p.T1025S;ENSG00000082397:ENST00000544123:exon20:c.A2566T:p.T856S;ENSG00000082397:ENST00000540638:exon18:c.A2407T:p.T803S;ENSG00000082397:ENST00000542146:exon9:c.A988T:p.T330S;ENSG00000082397:ENST00000400111:exon18:c.A2407T:p.T803S;	0.958291963916176	0.598
18	5395146	T	C	18	5395147	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.A2407G:p.T803A;EPB41L3:NM_001281533:exon20:c.A2566G:p.T856A;EPB41L3:NM_001281535:exon20:c.A2080G:p.T694A;EPB41L3:NM_012307:exon21:c.A3073G:p.T1025A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.A964G:p.T322A;ENSG00000082397:ENST00000342933:exon21:c.A3073G:p.T1025A;ENSG00000082397:ENST00000341928:exon21:c.A3073G:p.T1025A;ENSG00000082397:ENST00000544123:exon20:c.A2566G:p.T856A;ENSG00000082397:ENST00000540638:exon18:c.A2407G:p.T803A;ENSG00000082397:ENST00000542146:exon9:c.A988G:p.T330A;ENSG00000082397:ENST00000400111:exon18:c.A2407G:p.T803A;	0.766627947075861	0.59
18	5395146	T	G	18	5395147	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon18:c.A2407C:p.T803P;EPB41L3:NM_001281533:exon20:c.A2566C:p.T856P;EPB41L3:NM_001281535:exon20:c.A2080C:p.T694P;EPB41L3:NM_012307:exon21:c.A3073C:p.T1025P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon9:c.A964C:p.T322P;ENSG00000082397:ENST00000342933:exon21:c.A3073C:p.T1025P;ENSG00000082397:ENST00000341928:exon21:c.A3073C:p.T1025P;ENSG00000082397:ENST00000544123:exon20:c.A2566C:p.T856P;ENSG00000082397:ENST00000540638:exon18:c.A2407C:p.T803P;ENSG00000082397:ENST00000542146:exon9:c.A988C:p.T330P;ENSG00000082397:ENST00000400111:exon18:c.A2407C:p.T803P;	0.960669344746718	0.598
18	5395147	C	A	18	5395148	y	y	splicing	EPB41L3(NM_001281535:exon21:c.2080-1G>T;NM_001281533:exon21:c.2566-1G>T;NM_012307:exon22:c.3073-1G>T;NM_001281534:exon19:c.2407-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon22:c.3073-1G>T;ENST00000544123:exon21:c.2566-1G>T;ENST00000540638:exon19:c.2407-1G>T;ENST00000427684:exon10:c.964-1G>T;ENST00000542146:exon10:c.988-1G>T;ENST00000400111:exon19:c.2407-1G>T;ENST00000342933:exon22:c.3073-1G>T;ENST00000579951:exon4:c.234-1G>T)	.	.	0.999986434340258	0.936
18	5395147	C	G	18	5395148	y	y	splicing	EPB41L3(NM_001281535:exon21:c.2080-1G>C;NM_001281533:exon21:c.2566-1G>C;NM_012307:exon22:c.3073-1G>C;NM_001281534:exon19:c.2407-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon22:c.3073-1G>C;ENST00000544123:exon21:c.2566-1G>C;ENST00000540638:exon19:c.2407-1G>C;ENST00000427684:exon10:c.964-1G>C;ENST00000542146:exon10:c.988-1G>C;ENST00000400111:exon19:c.2407-1G>C;ENST00000342933:exon22:c.3073-1G>C;ENST00000579951:exon4:c.234-1G>C)	.	.	0.999986434340258	0.93
18	5395147	C	T	18	5395148	y	y	splicing	EPB41L3(NM_001281535:exon21:c.2080-1G>A;NM_001281533:exon21:c.2566-1G>A;NM_012307:exon22:c.3073-1G>A;NM_001281534:exon19:c.2407-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon22:c.3073-1G>A;ENST00000544123:exon21:c.2566-1G>A;ENST00000540638:exon19:c.2407-1G>A;ENST00000427684:exon10:c.964-1G>A;ENST00000542146:exon10:c.988-1G>A;ENST00000400111:exon19:c.2407-1G>A;ENST00000342933:exon22:c.3073-1G>A;ENST00000579951:exon4:c.234-1G>A)	.	.	0.999992425382947	0.938
18	5395148	T	A	18	5395149	y	y	splicing	EPB41L3(NM_001281535:exon21:c.2080-2A>T;NM_001281533:exon21:c.2566-2A>T;NM_012307:exon22:c.3073-2A>T;NM_001281534:exon19:c.2407-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon22:c.3073-2A>T;ENST00000544123:exon21:c.2566-2A>T;ENST00000540638:exon19:c.2407-2A>T;ENST00000427684:exon10:c.964-2A>T;ENST00000542146:exon10:c.988-2A>T;ENST00000400111:exon19:c.2407-2A>T;ENST00000342933:exon22:c.3073-2A>T;ENST00000579951:exon4:c.234-2A>T)	.	.	0.999957317860884	0.934
18	5395148	T	C	18	5395149	y	y	splicing	EPB41L3(NM_001281535:exon21:c.2080-2A>G;NM_001281533:exon21:c.2566-2A>G;NM_012307:exon22:c.3073-2A>G;NM_001281534:exon19:c.2407-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon22:c.3073-2A>G;ENST00000544123:exon21:c.2566-2A>G;ENST00000540638:exon19:c.2407-2A>G;ENST00000427684:exon10:c.964-2A>G;ENST00000542146:exon10:c.988-2A>G;ENST00000400111:exon19:c.2407-2A>G;ENST00000342933:exon22:c.3073-2A>G;ENST00000579951:exon4:c.234-2A>G)	.	.	0.999957317860884	0.944
18	5395148	T	G	18	5395149	y	y	splicing	EPB41L3(NM_001281535:exon21:c.2080-2A>C;NM_001281533:exon21:c.2566-2A>C;NM_012307:exon22:c.3073-2A>C;NM_001281534:exon19:c.2407-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon22:c.3073-2A>C;ENST00000544123:exon21:c.2566-2A>C;ENST00000540638:exon19:c.2407-2A>C;ENST00000427684:exon10:c.964-2A>C;ENST00000542146:exon10:c.988-2A>C;ENST00000400111:exon19:c.2407-2A>C;ENST00000342933:exon22:c.3073-2A>C;ENST00000579951:exon4:c.234-2A>C)	.	.	0.999957317860884	0.938
18	5395149	G	A	18	5395150	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.51270574535338E-4	0.012
18	5395149	G	C	18	5395150	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.994480564026644	0.742
18	5395149	G	T	18	5395150	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.437202641791981	0.59
18	5395150	C	A	18	5395151	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.59875301259037E-5	0.006
18	5395150	C	G	18	5395151	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.81031072947804E-5	0.038
18	5395150	C	T	18	5395151	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.29845504788085E-5	0.002
18	5395151	A	C	18	5395152	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.702103276612039	0.43
18	5395151	A	G	18	5395152	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0505182798190751	0.26
18	5395151	A	T	18	5395152	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999947059244238	0.874
18	5395152	A	C	18	5395153	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.260549757942659	0.406
18	5395152	A	G	18	5395153	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.85333390589883E-4	0.026
18	5395152	A	T	18	5395153	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.114251950346107	0.326
18	5395153	G	A	18	5395154	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.87050793830918E-4	0.022
18	5395153	G	C	18	5395154	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0215746066358059	0.15
18	5395153	G	T	18	5395154	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0135305853152851	0.152
18	5395154	A	C	18	5395155	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.12421446323068E-4	0.156
18	5395154	A	G	18	5395155	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.36820659038288E-5	0.0
18	5395154	A	T	18	5395155	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00419382645614119	0.174
18	5395155	C	A	18	5395156	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.16182799905373E-5	0.008
18	5395155	C	G	18	5395156	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.16182799905373E-5	0.0
18	5395155	C	T	18	5395156	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.05725075185113E-4	0.0
18	5395156	A	C	18	5395157	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.357161947963745	0.566
18	5395156	A	G	18	5395157	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00363039156603572	0.19
18	5395156	A	T	18	5395157	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999918488289036	0.968
18	5395157	C	A	18	5395158	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.22324660413101E-5	0.04
18	5395157	C	G	18	5395158	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.22324660413101E-5	0.004
18	5395157	C	T	18	5395158	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00113769291754926	0.222
18	5395158	G	A	18	5395159	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.8478975786595E-5	0.0
18	5395158	G	C	18	5395159	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998931966474568	0.972
18	5395158	G	T	18	5395159	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.9991005232733	0.974
18	5395600	C	A	18	5395601	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.54134607844253E-5	0.0
18	5395600	C	G	18	5395601	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.62600027245509E-5	0.0
18	5395600	C	T	18	5395601	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.10862105454674E-4	0.0
18	5395601	C	A	18	5395602	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.4960356942388E-5	0.006
18	5395601	C	G	18	5395602	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.9383400781163E-5	0.0
18	5395601	C	T	18	5395602	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.19602062044211E-5	0.002
18	5395602	A	C	18	5395603	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.319401965758752	0.522
18	5395602	A	G	18	5395603	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0804195921300421	0.57
18	5395602	A	T	18	5395603	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.462351906840604	0.604
18	5395603	C	A	18	5395604	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999568531671285	0.934
18	5395603	C	G	18	5395604	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997762803353744	0.916
18	5395603	C	T	18	5395604	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99855318520479	0.974
18	5395604	T	A	18	5395605	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999339317114409	0.902
18	5395604	T	C	18	5395605	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998495087071632	0.938
18	5395604	T	G	18	5395605	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999046899035063	0.906
18	5395605	T	A	18	5395606	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995901583465209	0.862
18	5395605	T	C	18	5395606	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.198097315543664	0.306
18	5395605	T	G	18	5395606	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999869494632598	0.93
18	5395606	A	C	18	5395607	y	y	splicing	EPB41L3(NM_001281535:exon20:c.2079+2T>G;NM_001281533:exon20:c.2565+2T>G;NM_012307:exon21:c.3072+2T>G;NM_001281534:exon18:c.2406+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.3072+2T>G;ENST00000544123:exon20:c.2565+2T>G;ENST00000540638:exon18:c.2406+2T>G;ENST00000427684:exon9:c.963+2T>G;ENST00000542146:exon9:c.987+2T>G;ENST00000400111:exon18:c.2406+2T>G;ENST00000342933:exon21:c.3072+2T>G;ENST00000579951:exon3:c.233+2T>G)	.	.	0.999988247793601	0.93
18	5395606	A	G	18	5395607	y	y	splicing	EPB41L3(NM_001281535:exon20:c.2079+2T>C;NM_001281533:exon20:c.2565+2T>C;NM_012307:exon21:c.3072+2T>C;NM_001281534:exon18:c.2406+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.3072+2T>C;ENST00000544123:exon20:c.2565+2T>C;ENST00000540638:exon18:c.2406+2T>C;ENST00000427684:exon9:c.963+2T>C;ENST00000542146:exon9:c.987+2T>C;ENST00000400111:exon18:c.2406+2T>C;ENST00000342933:exon21:c.3072+2T>C;ENST00000579951:exon3:c.233+2T>C)	.	.	0.99340600729494	0.704
18	5395606	A	T	18	5395607	y	y	splicing	EPB41L3(NM_001281535:exon20:c.2079+2T>A;NM_001281533:exon20:c.2565+2T>A;NM_012307:exon21:c.3072+2T>A;NM_001281534:exon18:c.2406+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.3072+2T>A;ENST00000544123:exon20:c.2565+2T>A;ENST00000540638:exon18:c.2406+2T>A;ENST00000427684:exon9:c.963+2T>A;ENST00000542146:exon9:c.987+2T>A;ENST00000400111:exon18:c.2406+2T>A;ENST00000342933:exon21:c.3072+2T>A;ENST00000579951:exon3:c.233+2T>A)	.	.	0.999988247793601	0.93
18	5395607	C	A	18	5395608	y	y	splicing	EPB41L3(NM_001281535:exon20:c.2079+1G>T;NM_001281533:exon20:c.2565+1G>T;NM_012307:exon21:c.3072+1G>T;NM_001281534:exon18:c.2406+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.3072+1G>T;ENST00000544123:exon20:c.2565+1G>T;ENST00000540638:exon18:c.2406+1G>T;ENST00000427684:exon9:c.963+1G>T;ENST00000542146:exon9:c.987+1G>T;ENST00000400111:exon18:c.2406+1G>T;ENST00000342933:exon21:c.3072+1G>T;ENST00000579951:exon3:c.233+1G>T)	.	.	0.999990361384395	0.938
18	5395607	C	G	18	5395608	y	y	splicing	EPB41L3(NM_001281535:exon20:c.2079+1G>C;NM_001281533:exon20:c.2565+1G>C;NM_012307:exon21:c.3072+1G>C;NM_001281534:exon18:c.2406+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.3072+1G>C;ENST00000544123:exon20:c.2565+1G>C;ENST00000540638:exon18:c.2406+1G>C;ENST00000427684:exon9:c.963+1G>C;ENST00000542146:exon9:c.987+1G>C;ENST00000400111:exon18:c.2406+1G>C;ENST00000342933:exon21:c.3072+1G>C;ENST00000579951:exon3:c.233+1G>C)	.	.	0.999990361384395	0.938
18	5395607	C	T	18	5395608	y	y	splicing	EPB41L3(NM_001281535:exon20:c.2079+1G>A;NM_001281533:exon20:c.2565+1G>A;NM_012307:exon21:c.3072+1G>A;NM_001281534:exon18:c.2406+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.3072+1G>A;ENST00000544123:exon20:c.2565+1G>A;ENST00000540638:exon18:c.2406+1G>A;ENST00000427684:exon9:c.963+1G>A;ENST00000542146:exon9:c.987+1G>A;ENST00000400111:exon18:c.2406+1G>A;ENST00000342933:exon21:c.3072+1G>A;ENST00000579951:exon3:c.233+1G>A)	.	.	0.999990361384395	0.938
18	5395608	T	A	18	5395609	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.A2406T:p.K802N;EPB41L3:NM_001281533:exon19:c.A2565T:p.K855N;EPB41L3:NM_001281535:exon19:c.A2079T:p.K693N;EPB41L3:NM_012307:exon20:c.A3072T:p.K1024N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.A963T:p.K321N;ENSG00000082397:ENST00000342933:exon20:c.A3072T:p.K1024N;ENSG00000082397:ENST00000341928:exon20:c.A3072T:p.K1024N;ENSG00000082397:ENST00000544123:exon19:c.A2565T:p.K855N;ENSG00000082397:ENST00000540638:exon17:c.A2406T:p.K802N;ENSG00000082397:ENST00000542146:exon8:c.A987T:p.K329N;ENSG00000082397:ENST00000400111:exon17:c.A2406T:p.K802N;	0.0385436833384487	0.214
18	5395608	T	C	18	5395609	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon17:c.A2406G:p.K802K;EPB41L3:NM_001281533:exon19:c.A2565G:p.K855K;EPB41L3:NM_001281535:exon19:c.A2079G:p.K693K;EPB41L3:NM_012307:exon20:c.A3072G:p.K1024K;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.A963G:p.K321K;ENSG00000082397:ENST00000342933:exon20:c.A3072G:p.K1024K;ENSG00000082397:ENST00000341928:exon20:c.A3072G:p.K1024K;ENSG00000082397:ENST00000544123:exon19:c.A2565G:p.K855K;ENSG00000082397:ENST00000540638:exon17:c.A2406G:p.K802K;ENSG00000082397:ENST00000542146:exon8:c.A987G:p.K329K;ENSG00000082397:ENST00000400111:exon17:c.A2406G:p.K802K;	0.00101968777065451	0.114
18	5395608	T	G	18	5395609	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.A2406C:p.K802N;EPB41L3:NM_001281533:exon19:c.A2565C:p.K855N;EPB41L3:NM_001281535:exon19:c.A2079C:p.K693N;EPB41L3:NM_012307:exon20:c.A3072C:p.K1024N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.A963C:p.K321N;ENSG00000082397:ENST00000342933:exon20:c.A3072C:p.K1024N;ENSG00000082397:ENST00000341928:exon20:c.A3072C:p.K1024N;ENSG00000082397:ENST00000544123:exon19:c.A2565C:p.K855N;ENSG00000082397:ENST00000540638:exon17:c.A2406C:p.K802N;ENSG00000082397:ENST00000542146:exon8:c.A987C:p.K329N;ENSG00000082397:ENST00000400111:exon17:c.A2406C:p.K802N;	0.00643421028089315	0.18
18	5395609	T	A	18	5395610	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.A2405T:p.K802I;EPB41L3:NM_001281533:exon19:c.A2564T:p.K855I;EPB41L3:NM_001281535:exon19:c.A2078T:p.K693I;EPB41L3:NM_012307:exon20:c.A3071T:p.K1024I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.A962T:p.K321I;ENSG00000082397:ENST00000342933:exon20:c.A3071T:p.K1024I;ENSG00000082397:ENST00000341928:exon20:c.A3071T:p.K1024I;ENSG00000082397:ENST00000544123:exon19:c.A2564T:p.K855I;ENSG00000082397:ENST00000540638:exon17:c.A2405T:p.K802I;ENSG00000082397:ENST00000542146:exon8:c.A986T:p.K329I;ENSG00000082397:ENST00000400111:exon17:c.A2405T:p.K802I;	0.996466572197418	0.914
18	5395609	T	C	18	5395610	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.A2405G:p.K802R;EPB41L3:NM_001281533:exon19:c.A2564G:p.K855R;EPB41L3:NM_001281535:exon19:c.A2078G:p.K693R;EPB41L3:NM_012307:exon20:c.A3071G:p.K1024R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.A962G:p.K321R;ENSG00000082397:ENST00000342933:exon20:c.A3071G:p.K1024R;ENSG00000082397:ENST00000341928:exon20:c.A3071G:p.K1024R;ENSG00000082397:ENST00000544123:exon19:c.A2564G:p.K855R;ENSG00000082397:ENST00000540638:exon17:c.A2405G:p.K802R;ENSG00000082397:ENST00000542146:exon8:c.A986G:p.K329R;ENSG00000082397:ENST00000400111:exon17:c.A2405G:p.K802R;	0.994765396042039	0.898
18	5395609	T	G	18	5395610	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.A2405C:p.K802T;EPB41L3:NM_001281533:exon19:c.A2564C:p.K855T;EPB41L3:NM_001281535:exon19:c.A2078C:p.K693T;EPB41L3:NM_012307:exon20:c.A3071C:p.K1024T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.A962C:p.K321T;ENSG00000082397:ENST00000342933:exon20:c.A3071C:p.K1024T;ENSG00000082397:ENST00000341928:exon20:c.A3071C:p.K1024T;ENSG00000082397:ENST00000544123:exon19:c.A2564C:p.K855T;ENSG00000082397:ENST00000540638:exon17:c.A2405C:p.K802T;ENSG00000082397:ENST00000542146:exon8:c.A986C:p.K329T;ENSG00000082397:ENST00000400111:exon17:c.A2405C:p.K802T;	0.994256866991464	0.952
18	5395610	T	A	18	5395611	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon17:c.A2404T:p.K802X;EPB41L3:NM_001281533:exon19:c.A2563T:p.K855X;EPB41L3:NM_001281535:exon19:c.A2077T:p.K693X;EPB41L3:NM_012307:exon20:c.A3070T:p.K1024X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000427684:exon8:c.A961T:p.K321X;ENSG00000082397:ENST00000342933:exon20:c.A3070T:p.K1024X;ENSG00000082397:ENST00000341928:exon20:c.A3070T:p.K1024X;ENSG00000082397:ENST00000544123:exon19:c.A2563T:p.K855X;ENSG00000082397:ENST00000540638:exon17:c.A2404T:p.K802X;ENSG00000082397:ENST00000542146:exon8:c.A985T:p.K329X;ENSG00000082397:ENST00000400111:exon17:c.A2404T:p.K802X;	0.964346160999037	0.664
18	5395610	T	C	18	5395611	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.A2404G:p.K802E;EPB41L3:NM_001281533:exon19:c.A2563G:p.K855E;EPB41L3:NM_001281535:exon19:c.A2077G:p.K693E;EPB41L3:NM_012307:exon20:c.A3070G:p.K1024E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.A961G:p.K321E;ENSG00000082397:ENST00000342933:exon20:c.A3070G:p.K1024E;ENSG00000082397:ENST00000341928:exon20:c.A3070G:p.K1024E;ENSG00000082397:ENST00000544123:exon19:c.A2563G:p.K855E;ENSG00000082397:ENST00000540638:exon17:c.A2404G:p.K802E;ENSG00000082397:ENST00000542146:exon8:c.A985G:p.K329E;ENSG00000082397:ENST00000400111:exon17:c.A2404G:p.K802E;	0.741600030234474	0.626
18	5395610	T	G	18	5395611	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.A2404C:p.K802Q;EPB41L3:NM_001281533:exon19:c.A2563C:p.K855Q;EPB41L3:NM_001281535:exon19:c.A2077C:p.K693Q;EPB41L3:NM_012307:exon20:c.A3070C:p.K1024Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.A961C:p.K321Q;ENSG00000082397:ENST00000342933:exon20:c.A3070C:p.K1024Q;ENSG00000082397:ENST00000341928:exon20:c.A3070C:p.K1024Q;ENSG00000082397:ENST00000544123:exon19:c.A2563C:p.K855Q;ENSG00000082397:ENST00000540638:exon17:c.A2404C:p.K802Q;ENSG00000082397:ENST00000542146:exon8:c.A985C:p.K329Q;ENSG00000082397:ENST00000400111:exon17:c.A2404C:p.K802Q;	0.789919102740073	0.726
18	5395705	A	C	18	5395706	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.T2309G:p.V770G;EPB41L3:NM_001281533:exon19:c.T2468G:p.V823G;EPB41L3:NM_001281535:exon19:c.T1982G:p.V661G;EPB41L3:NM_012307:exon20:c.T2975G:p.V992G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.T866G:p.V289G;ENSG00000082397:ENST00000342933:exon20:c.T2975G:p.V992G;ENSG00000082397:ENST00000341928:exon20:c.T2975G:p.V992G;ENSG00000082397:ENST00000544123:exon19:c.T2468G:p.V823G;ENSG00000082397:ENST00000540638:exon17:c.T2309G:p.V770G;ENSG00000082397:ENST00000542146:exon8:c.T890G:p.V297G;ENSG00000082397:ENST00000400111:exon17:c.T2309G:p.V770G;	0.00342479413201094	0.068
18	5395705	A	G	18	5395706	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.T2309C:p.V770A;EPB41L3:NM_001281533:exon19:c.T2468C:p.V823A;EPB41L3:NM_001281535:exon19:c.T1982C:p.V661A;EPB41L3:NM_012307:exon20:c.T2975C:p.V992A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.T866C:p.V289A;ENSG00000082397:ENST00000342933:exon20:c.T2975C:p.V992A;ENSG00000082397:ENST00000341928:exon20:c.T2975C:p.V992A;ENSG00000082397:ENST00000544123:exon19:c.T2468C:p.V823A;ENSG00000082397:ENST00000540638:exon17:c.T2309C:p.V770A;ENSG00000082397:ENST00000542146:exon8:c.T890C:p.V297A;ENSG00000082397:ENST00000400111:exon17:c.T2309C:p.V770A;	0.137016285550611	0.31
18	5395705	A	T	18	5395706	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.T2309A:p.V770D;EPB41L3:NM_001281533:exon19:c.T2468A:p.V823D;EPB41L3:NM_001281535:exon19:c.T1982A:p.V661D;EPB41L3:NM_012307:exon20:c.T2975A:p.V992D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.T866A:p.V289D;ENSG00000082397:ENST00000342933:exon20:c.T2975A:p.V992D;ENSG00000082397:ENST00000341928:exon20:c.T2975A:p.V992D;ENSG00000082397:ENST00000544123:exon19:c.T2468A:p.V823D;ENSG00000082397:ENST00000540638:exon17:c.T2309A:p.V770D;ENSG00000082397:ENST00000542146:exon8:c.T890A:p.V297D;ENSG00000082397:ENST00000400111:exon17:c.T2309A:p.V770D;	0.32010911274477	0.34
18	5395706	C	A	18	5395707	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.G2308T:p.V770F;EPB41L3:NM_001281533:exon19:c.G2467T:p.V823F;EPB41L3:NM_001281535:exon19:c.G1981T:p.V661F;EPB41L3:NM_012307:exon20:c.G2974T:p.V992F;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.G865T:p.V289F;ENSG00000082397:ENST00000342933:exon20:c.G2974T:p.V992F;ENSG00000082397:ENST00000341928:exon20:c.G2974T:p.V992F;ENSG00000082397:ENST00000544123:exon19:c.G2467T:p.V823F;ENSG00000082397:ENST00000540638:exon17:c.G2308T:p.V770F;ENSG00000082397:ENST00000542146:exon8:c.G889T:p.V297F;ENSG00000082397:ENST00000400111:exon17:c.G2308T:p.V770F;	0.999899960517622	0.988
18	5395706	C	G	18	5395707	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.G2308C:p.V770L;EPB41L3:NM_001281533:exon19:c.G2467C:p.V823L;EPB41L3:NM_001281535:exon19:c.G1981C:p.V661L;EPB41L3:NM_012307:exon20:c.G2974C:p.V992L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.G865C:p.V289L;ENSG00000082397:ENST00000342933:exon20:c.G2974C:p.V992L;ENSG00000082397:ENST00000341928:exon20:c.G2974C:p.V992L;ENSG00000082397:ENST00000544123:exon19:c.G2467C:p.V823L;ENSG00000082397:ENST00000540638:exon17:c.G2308C:p.V770L;ENSG00000082397:ENST00000542146:exon8:c.G889C:p.V297L;ENSG00000082397:ENST00000400111:exon17:c.G2308C:p.V770L;	0.996108958008088	0.822
18	5395706	C	T	18	5395707	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon17:c.G2308A:p.V770I;EPB41L3:NM_001281533:exon19:c.G2467A:p.V823I;EPB41L3:NM_001281535:exon19:c.G1981A:p.V661I;EPB41L3:NM_012307:exon20:c.G2974A:p.V992I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon8:c.G865A:p.V289I;ENSG00000082397:ENST00000342933:exon20:c.G2974A:p.V992I;ENSG00000082397:ENST00000341928:exon20:c.G2974A:p.V992I;ENSG00000082397:ENST00000544123:exon19:c.G2467A:p.V823I;ENSG00000082397:ENST00000540638:exon17:c.G2308A:p.V770I;ENSG00000082397:ENST00000542146:exon8:c.G889A:p.V297I;ENSG00000082397:ENST00000400111:exon17:c.G2308A:p.V770I;	0.949429155455952	0.676
18	5395707	C	A	18	5395708	y	y	splicing	EPB41L3(NM_001281535:exon20:c.1981-1G>T;NM_001281533:exon20:c.2467-1G>T;NM_012307:exon21:c.2974-1G>T;NM_001281534:exon18:c.2308-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.2974-1G>T;ENST00000544123:exon20:c.2467-1G>T;ENST00000540638:exon18:c.2308-1G>T;ENST00000427684:exon9:c.865-1G>T;ENST00000542146:exon9:c.889-1G>T;ENST00000400111:exon18:c.2308-1G>T;ENST00000342933:exon21:c.2974-1G>T;ENST00000579951:exon3:c.135-1G>T)	.	.	0.99995545544995	0.934
18	5395707	C	G	18	5395708	y	y	splicing	EPB41L3(NM_001281535:exon20:c.1981-1G>C;NM_001281533:exon20:c.2467-1G>C;NM_012307:exon21:c.2974-1G>C;NM_001281534:exon18:c.2308-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.2974-1G>C;ENST00000544123:exon20:c.2467-1G>C;ENST00000540638:exon18:c.2308-1G>C;ENST00000427684:exon9:c.865-1G>C;ENST00000542146:exon9:c.889-1G>C;ENST00000400111:exon18:c.2308-1G>C;ENST00000342933:exon21:c.2974-1G>C;ENST00000579951:exon3:c.135-1G>C)	.	.	0.99995545544995	0.934
18	5395707	C	T	18	5395708	y	y	splicing	EPB41L3(NM_001281535:exon20:c.1981-1G>A;NM_001281533:exon20:c.2467-1G>A;NM_012307:exon21:c.2974-1G>A;NM_001281534:exon18:c.2308-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.2974-1G>A;ENST00000544123:exon20:c.2467-1G>A;ENST00000540638:exon18:c.2308-1G>A;ENST00000427684:exon9:c.865-1G>A;ENST00000542146:exon9:c.889-1G>A;ENST00000400111:exon18:c.2308-1G>A;ENST00000342933:exon21:c.2974-1G>A;ENST00000579951:exon3:c.135-1G>A)	.	.	0.99995545544995	0.932
18	5395708	T	A	18	5395709	y	y	splicing	EPB41L3(NM_001281535:exon20:c.1981-2A>T;NM_001281533:exon20:c.2467-2A>T;NM_012307:exon21:c.2974-2A>T;NM_001281534:exon18:c.2308-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.2974-2A>T;ENST00000544123:exon20:c.2467-2A>T;ENST00000540638:exon18:c.2308-2A>T;ENST00000427684:exon9:c.865-2A>T;ENST00000542146:exon9:c.889-2A>T;ENST00000400111:exon18:c.2308-2A>T;ENST00000342933:exon21:c.2974-2A>T;ENST00000579951:exon3:c.135-2A>T)	.	.	0.99994568797423	0.942
18	5395708	T	C	18	5395709	y	y	splicing	EPB41L3(NM_001281535:exon20:c.1981-2A>G;NM_001281533:exon20:c.2467-2A>G;NM_012307:exon21:c.2974-2A>G;NM_001281534:exon18:c.2308-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.2974-2A>G;ENST00000544123:exon20:c.2467-2A>G;ENST00000540638:exon18:c.2308-2A>G;ENST00000427684:exon9:c.865-2A>G;ENST00000542146:exon9:c.889-2A>G;ENST00000400111:exon18:c.2308-2A>G;ENST00000342933:exon21:c.2974-2A>G;ENST00000579951:exon3:c.135-2A>G)	.	.	0.99994568797423	0.946
18	5395708	T	G	18	5395709	y	y	splicing	EPB41L3(NM_001281535:exon20:c.1981-2A>C;NM_001281533:exon20:c.2467-2A>C;NM_012307:exon21:c.2974-2A>C;NM_001281534:exon18:c.2308-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon21:c.2974-2A>C;ENST00000544123:exon20:c.2467-2A>C;ENST00000540638:exon18:c.2308-2A>C;ENST00000427684:exon9:c.865-2A>C;ENST00000542146:exon9:c.889-2A>C;ENST00000400111:exon18:c.2308-2A>C;ENST00000342933:exon21:c.2974-2A>C;ENST00000579951:exon3:c.135-2A>C)	.	.	0.99994568797423	0.946
18	5395709	A	C	18	5395710	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.789401295404287	0.654
18	5395709	A	G	18	5395710	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.84182644045575E-5	0.0
18	5395709	A	T	18	5395710	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0129458000428583	0.212
18	5395710	A	C	18	5395711	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.75788892262918E-4	0.004
18	5395710	A	G	18	5395711	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.1125999538189E-4	0.0
18	5395710	A	T	18	5395711	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.48412413221785E-5	0.0
18	5395711	A	C	18	5395712	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.122795904382573	0.356
18	5395711	A	G	18	5395712	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.52730842920805E-5	0.0
18	5395711	A	T	18	5395712	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.170151729877145	0.354
18	5395712	G	A	18	5395713	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.69386787994675E-5	0.004
18	5395712	G	C	18	5395713	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.00179728773513E-4	0.076
18	5395712	G	T	18	5395713	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.63456406247045E-4	0.098
18	5395713	C	A	18	5395714	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.4025672634296E-5	0.004
18	5395713	C	G	18	5395714	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.09911628030117E-5	0.0
18	5395713	C	T	18	5395714	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.95947804872752E-4	0.03
18	5395714	A	C	18	5395715	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0158694180743307	0.288
18	5395714	A	G	18	5395715	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.42470933444848E-4	0.01
18	5395714	A	T	18	5395715	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999803181947187	0.996
18	5395715	G	A	18	5395716	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.26877544649037E-5	0.004
18	5395715	G	C	18	5395716	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.11329339308667E-4	0.04
18	5395715	G	T	18	5395716	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.21885368056639E-4	0.026
18	5395716	C	A	18	5395717	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.45611345940212E-5	0.002
18	5395716	C	G	18	5395717	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.10903734160987E-5	0.004
18	5395716	C	T	18	5395717	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.03387789683986E-4	0.006
18	5395717	A	C	18	5395718	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.188927082257515	0.496
18	5395717	A	G	18	5395718	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.35334335847879E-4	0.066
18	5395717	A	T	18	5395718	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999924628734246	0.928
18	5395718	G	A	18	5395719	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.86704868722716E-5	0.0
18	5395718	G	C	18	5395719	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.8093198076398E-5	0.032
18	5395718	G	T	18	5395719	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.17356179303323E-5	0.008
18	5396192	T	A	18	5396193	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.14199784874796E-5	0.016
18	5396192	T	C	18	5396193	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.67735955014861E-6	0.004
18	5396192	T	G	18	5396193	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.10275622159801E-5	0.0
18	5396193	A	C	18	5396194	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.78416112795009E-5	0.002
18	5396193	A	G	18	5396194	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.07256548728156E-5	0.0
18	5396193	A	T	18	5396194	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.07256548728156E-5	0.004
18	5396194	T	A	18	5396195	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.33773725006467E-4	0.012
18	5396194	T	C	18	5396195	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.69103603964185E-4	0.0
18	5396194	T	G	18	5396195	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.56562979644513E-4	0.018
18	5396195	C	A	18	5396196	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.994002689859242	0.848
18	5396195	C	G	18	5396196	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997435955975008	0.818
18	5396195	C	T	18	5396196	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998879089005931	0.916
18	5396196	T	A	18	5396197	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.928530282787454	0.454
18	5396196	T	C	18	5396197	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.34329344546032	0.396
18	5396196	T	G	18	5396197	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0358175292483468	0.316
18	5396197	C	A	18	5396198	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00888726533330873	0.218
18	5396197	C	G	18	5396198	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0026615246330441	0.15
18	5396197	C	T	18	5396198	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.16300946664283E-5	0.0
18	5396198	A	C	18	5396199	y	y	splicing	EPB41L3(NM_001281535:exon19:c.1980+2T>G;NM_001281533:exon19:c.2466+2T>G;NM_012307:exon20:c.2973+2T>G;NM_001281534:exon17:c.2307+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon20:c.2973+2T>G;ENST00000544123:exon19:c.2466+2T>G;ENST00000540638:exon17:c.2307+2T>G;ENST00000427684:exon8:c.864+2T>G;ENST00000542146:exon8:c.888+2T>G;ENST00000400111:exon17:c.2307+2T>G;ENST00000342933:exon20:c.2973+2T>G;ENST00000579951:exon2:c.134+2T>G)	.	.	0.999978952611685	0.93
18	5396198	A	G	18	5396199	y	y	splicing	EPB41L3(NM_001281535:exon19:c.1980+2T>C;NM_001281533:exon19:c.2466+2T>C;NM_012307:exon20:c.2973+2T>C;NM_001281534:exon17:c.2307+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon20:c.2973+2T>C;ENST00000544123:exon19:c.2466+2T>C;ENST00000540638:exon17:c.2307+2T>C;ENST00000427684:exon8:c.864+2T>C;ENST00000542146:exon8:c.888+2T>C;ENST00000400111:exon17:c.2307+2T>C;ENST00000342933:exon20:c.2973+2T>C;ENST00000579951:exon2:c.134+2T>C)	.	.	0.999874152059392	0.852
18	5396198	A	T	18	5396199	y	y	splicing	EPB41L3(NM_001281535:exon19:c.1980+2T>A;NM_001281533:exon19:c.2466+2T>A;NM_012307:exon20:c.2973+2T>A;NM_001281534:exon17:c.2307+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon20:c.2973+2T>A;ENST00000544123:exon19:c.2466+2T>A;ENST00000540638:exon17:c.2307+2T>A;ENST00000427684:exon8:c.864+2T>A;ENST00000542146:exon8:c.888+2T>A;ENST00000400111:exon17:c.2307+2T>A;ENST00000342933:exon20:c.2973+2T>A;ENST00000579951:exon2:c.134+2T>A)	.	.	0.999978952611685	0.932
18	5396199	C	A	18	5396200	y	y	splicing	EPB41L3(NM_001281535:exon19:c.1980+1G>T;NM_001281533:exon19:c.2466+1G>T;NM_012307:exon20:c.2973+1G>T;NM_001281534:exon17:c.2307+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon20:c.2973+1G>T;ENST00000544123:exon19:c.2466+1G>T;ENST00000540638:exon17:c.2307+1G>T;ENST00000427684:exon8:c.864+1G>T;ENST00000542146:exon8:c.888+1G>T;ENST00000400111:exon17:c.2307+1G>T;ENST00000342933:exon20:c.2973+1G>T;ENST00000579951:exon2:c.134+1G>T)	.	.	0.999990361384395	0.936
18	5396199	C	G	18	5396200	y	y	splicing	EPB41L3(NM_001281535:exon19:c.1980+1G>C;NM_001281533:exon19:c.2466+1G>C;NM_012307:exon20:c.2973+1G>C;NM_001281534:exon17:c.2307+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon20:c.2973+1G>C;ENST00000544123:exon19:c.2466+1G>C;ENST00000540638:exon17:c.2307+1G>C;ENST00000427684:exon8:c.864+1G>C;ENST00000542146:exon8:c.888+1G>C;ENST00000400111:exon17:c.2307+1G>C;ENST00000342933:exon20:c.2973+1G>C;ENST00000579951:exon2:c.134+1G>C)	.	.	0.999990361384395	0.936
18	5396199	C	T	18	5396200	y	y	splicing	EPB41L3(NM_001281535:exon19:c.1980+1G>A;NM_001281533:exon19:c.2466+1G>A;NM_012307:exon20:c.2973+1G>A;NM_001281534:exon17:c.2307+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon20:c.2973+1G>A;ENST00000544123:exon19:c.2466+1G>A;ENST00000540638:exon17:c.2307+1G>A;ENST00000427684:exon8:c.864+1G>A;ENST00000542146:exon8:c.888+1G>A;ENST00000400111:exon17:c.2307+1G>A;ENST00000342933:exon20:c.2973+1G>A;ENST00000579951:exon2:c.134+1G>A)	.	.	0.999990361384395	0.936
18	5396200	C	A	18	5396201	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.G2307T:p.Q769H;EPB41L3:NM_001281533:exon18:c.G2466T:p.Q822H;EPB41L3:NM_001281535:exon18:c.G1980T:p.Q660H;EPB41L3:NM_012307:exon19:c.G2973T:p.Q991H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.G864T:p.Q288H;ENSG00000082397:ENST00000342933:exon19:c.G2973T:p.Q991H;ENSG00000082397:ENST00000341928:exon19:c.G2973T:p.Q991H;ENSG00000082397:ENST00000544123:exon18:c.G2466T:p.Q822H;ENSG00000082397:ENST00000540638:exon16:c.G2307T:p.Q769H;ENSG00000082397:ENST00000542146:exon7:c.G888T:p.Q296H;ENSG00000082397:ENST00000400111:exon16:c.G2307T:p.Q769H;	0.999963092057555	0.99
18	5396200	C	G	18	5396201	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.G2307C:p.Q769H;EPB41L3:NM_001281533:exon18:c.G2466C:p.Q822H;EPB41L3:NM_001281535:exon18:c.G1980C:p.Q660H;EPB41L3:NM_012307:exon19:c.G2973C:p.Q991H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.G864C:p.Q288H;ENSG00000082397:ENST00000342933:exon19:c.G2973C:p.Q991H;ENSG00000082397:ENST00000341928:exon19:c.G2973C:p.Q991H;ENSG00000082397:ENST00000544123:exon18:c.G2466C:p.Q822H;ENSG00000082397:ENST00000540638:exon16:c.G2307C:p.Q769H;ENSG00000082397:ENST00000542146:exon7:c.G888C:p.Q296H;ENSG00000082397:ENST00000400111:exon16:c.G2307C:p.Q769H;	0.999996241550158	1.0
18	5396200	C	T	18	5396201	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon16:c.G2307A:p.Q769Q;EPB41L3:NM_001281533:exon18:c.G2466A:p.Q822Q;EPB41L3:NM_001281535:exon18:c.G1980A:p.Q660Q;EPB41L3:NM_012307:exon19:c.G2973A:p.Q991Q;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.G864A:p.Q288Q;ENSG00000082397:ENST00000342933:exon19:c.G2973A:p.Q991Q;ENSG00000082397:ENST00000341928:exon19:c.G2973A:p.Q991Q;ENSG00000082397:ENST00000544123:exon18:c.G2466A:p.Q822Q;ENSG00000082397:ENST00000540638:exon16:c.G2307A:p.Q769Q;ENSG00000082397:ENST00000542146:exon7:c.G888A:p.Q296Q;ENSG00000082397:ENST00000400111:exon16:c.G2307A:p.Q769Q;	0.999925719254223	0.994
18	5396201	T	A	18	5396202	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.A2306T:p.Q769L;EPB41L3:NM_001281533:exon18:c.A2465T:p.Q822L;EPB41L3:NM_001281535:exon18:c.A1979T:p.Q660L;EPB41L3:NM_012307:exon19:c.A2972T:p.Q991L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.A863T:p.Q288L;ENSG00000082397:ENST00000342933:exon19:c.A2972T:p.Q991L;ENSG00000082397:ENST00000341928:exon19:c.A2972T:p.Q991L;ENSG00000082397:ENST00000544123:exon18:c.A2465T:p.Q822L;ENSG00000082397:ENST00000540638:exon16:c.A2306T:p.Q769L;ENSG00000082397:ENST00000542146:exon7:c.A887T:p.Q296L;ENSG00000082397:ENST00000400111:exon16:c.A2306T:p.Q769L;	0.999403011139549	0.976
18	5396201	T	C	18	5396202	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.A2306G:p.Q769R;EPB41L3:NM_001281533:exon18:c.A2465G:p.Q822R;EPB41L3:NM_001281535:exon18:c.A1979G:p.Q660R;EPB41L3:NM_012307:exon19:c.A2972G:p.Q991R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.A863G:p.Q288R;ENSG00000082397:ENST00000342933:exon19:c.A2972G:p.Q991R;ENSG00000082397:ENST00000341928:exon19:c.A2972G:p.Q991R;ENSG00000082397:ENST00000544123:exon18:c.A2465G:p.Q822R;ENSG00000082397:ENST00000540638:exon16:c.A2306G:p.Q769R;ENSG00000082397:ENST00000542146:exon7:c.A887G:p.Q296R;ENSG00000082397:ENST00000400111:exon16:c.A2306G:p.Q769R;	0.999711793145368	0.998
18	5396201	T	G	18	5396202	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.A2306C:p.Q769P;EPB41L3:NM_001281533:exon18:c.A2465C:p.Q822P;EPB41L3:NM_001281535:exon18:c.A1979C:p.Q660P;EPB41L3:NM_012307:exon19:c.A2972C:p.Q991P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.A863C:p.Q288P;ENSG00000082397:ENST00000342933:exon19:c.A2972C:p.Q991P;ENSG00000082397:ENST00000341928:exon19:c.A2972C:p.Q991P;ENSG00000082397:ENST00000544123:exon18:c.A2465C:p.Q822P;ENSG00000082397:ENST00000540638:exon16:c.A2306C:p.Q769P;ENSG00000082397:ENST00000542146:exon7:c.A887C:p.Q296P;ENSG00000082397:ENST00000400111:exon16:c.A2306C:p.Q769P;	0.983626537289152	0.84
18	5396202	G	A	18	5396203	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon16:c.C2305T:p.Q769X;EPB41L3:NM_001281533:exon18:c.C2464T:p.Q822X;EPB41L3:NM_001281535:exon18:c.C1978T:p.Q660X;EPB41L3:NM_012307:exon19:c.C2971T:p.Q991X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000427684:exon7:c.C862T:p.Q288X;ENSG00000082397:ENST00000342933:exon19:c.C2971T:p.Q991X;ENSG00000082397:ENST00000341928:exon19:c.C2971T:p.Q991X;ENSG00000082397:ENST00000544123:exon18:c.C2464T:p.Q822X;ENSG00000082397:ENST00000540638:exon16:c.C2305T:p.Q769X;ENSG00000082397:ENST00000542146:exon7:c.C886T:p.Q296X;ENSG00000082397:ENST00000400111:exon16:c.C2305T:p.Q769X;	0.980928481865636	0.782
18	5396202	G	C	18	5396203	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.C2305G:p.Q769E;EPB41L3:NM_001281533:exon18:c.C2464G:p.Q822E;EPB41L3:NM_001281535:exon18:c.C1978G:p.Q660E;EPB41L3:NM_012307:exon19:c.C2971G:p.Q991E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.C862G:p.Q288E;ENSG00000082397:ENST00000342933:exon19:c.C2971G:p.Q991E;ENSG00000082397:ENST00000341928:exon19:c.C2971G:p.Q991E;ENSG00000082397:ENST00000544123:exon18:c.C2464G:p.Q822E;ENSG00000082397:ENST00000540638:exon16:c.C2305G:p.Q769E;ENSG00000082397:ENST00000542146:exon7:c.C886G:p.Q296E;ENSG00000082397:ENST00000400111:exon16:c.C2305G:p.Q769E;	0.0105702132308386	0.188
18	5396202	G	T	18	5396203	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.C2305A:p.Q769K;EPB41L3:NM_001281533:exon18:c.C2464A:p.Q822K;EPB41L3:NM_001281535:exon18:c.C1978A:p.Q660K;EPB41L3:NM_012307:exon19:c.C2971A:p.Q991K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.C862A:p.Q288K;ENSG00000082397:ENST00000342933:exon19:c.C2971A:p.Q991K;ENSG00000082397:ENST00000341928:exon19:c.C2971A:p.Q991K;ENSG00000082397:ENST00000544123:exon18:c.C2464A:p.Q822K;ENSG00000082397:ENST00000540638:exon16:c.C2305A:p.Q769K;ENSG00000082397:ENST00000542146:exon7:c.C886A:p.Q296K;ENSG00000082397:ENST00000400111:exon16:c.C2305A:p.Q769K;	0.186640319813784	0.458
18	5396330	G	A	18	5396331	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.C2177T:p.S726F;EPB41L3:NM_001281533:exon18:c.C2336T:p.S779F;EPB41L3:NM_001281535:exon18:c.C1850T:p.S617F;EPB41L3:NM_012307:exon19:c.C2843T:p.S948F;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.C734T:p.S245F;ENSG00000082397:ENST00000342933:exon19:c.C2843T:p.S948F;ENSG00000082397:ENST00000341928:exon19:c.C2843T:p.S948F;ENSG00000082397:ENST00000544123:exon18:c.C2336T:p.S779F;ENSG00000082397:ENST00000540638:exon16:c.C2177T:p.S726F;ENSG00000082397:ENST00000542146:exon7:c.C758T:p.S253F;ENSG00000082397:ENST00000400111:exon16:c.C2177T:p.S726F;	0.982708188677913	0.82
18	5396330	G	C	18	5396331	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.C2177G:p.S726C;EPB41L3:NM_001281533:exon18:c.C2336G:p.S779C;EPB41L3:NM_001281535:exon18:c.C1850G:p.S617C;EPB41L3:NM_012307:exon19:c.C2843G:p.S948C;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.C734G:p.S245C;ENSG00000082397:ENST00000342933:exon19:c.C2843G:p.S948C;ENSG00000082397:ENST00000341928:exon19:c.C2843G:p.S948C;ENSG00000082397:ENST00000544123:exon18:c.C2336G:p.S779C;ENSG00000082397:ENST00000540638:exon16:c.C2177G:p.S726C;ENSG00000082397:ENST00000542146:exon7:c.C758G:p.S253C;ENSG00000082397:ENST00000400111:exon16:c.C2177G:p.S726C;	0.985913306885765	0.796
18	5396330	G	T	18	5396331	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.C2177A:p.S726Y;EPB41L3:NM_001281533:exon18:c.C2336A:p.S779Y;EPB41L3:NM_001281535:exon18:c.C1850A:p.S617Y;EPB41L3:NM_012307:exon19:c.C2843A:p.S948Y;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.C734A:p.S245Y;ENSG00000082397:ENST00000342933:exon19:c.C2843A:p.S948Y;ENSG00000082397:ENST00000341928:exon19:c.C2843A:p.S948Y;ENSG00000082397:ENST00000544123:exon18:c.C2336A:p.S779Y;ENSG00000082397:ENST00000540638:exon16:c.C2177A:p.S726Y;ENSG00000082397:ENST00000542146:exon7:c.C758A:p.S253Y;ENSG00000082397:ENST00000400111:exon16:c.C2177A:p.S726Y;	0.992026867956882	0.81
18	5396331	A	C	18	5396332	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.T2176G:p.S726A;EPB41L3:NM_001281533:exon18:c.T2335G:p.S779A;EPB41L3:NM_001281535:exon18:c.T1849G:p.S617A;EPB41L3:NM_012307:exon19:c.T2842G:p.S948A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.T733G:p.S245A;ENSG00000082397:ENST00000342933:exon19:c.T2842G:p.S948A;ENSG00000082397:ENST00000341928:exon19:c.T2842G:p.S948A;ENSG00000082397:ENST00000544123:exon18:c.T2335G:p.S779A;ENSG00000082397:ENST00000540638:exon16:c.T2176G:p.S726A;ENSG00000082397:ENST00000542146:exon7:c.T757G:p.S253A;ENSG00000082397:ENST00000400111:exon16:c.T2176G:p.S726A;	2.34768111479956E-4	0.184
18	5396331	A	G	18	5396332	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.T2176C:p.S726P;EPB41L3:NM_001281533:exon18:c.T2335C:p.S779P;EPB41L3:NM_001281535:exon18:c.T1849C:p.S617P;EPB41L3:NM_012307:exon19:c.T2842C:p.S948P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.T733C:p.S245P;ENSG00000082397:ENST00000342933:exon19:c.T2842C:p.S948P;ENSG00000082397:ENST00000341928:exon19:c.T2842C:p.S948P;ENSG00000082397:ENST00000544123:exon18:c.T2335C:p.S779P;ENSG00000082397:ENST00000540638:exon16:c.T2176C:p.S726P;ENSG00000082397:ENST00000542146:exon7:c.T757C:p.S253P;ENSG00000082397:ENST00000400111:exon16:c.T2176C:p.S726P;	0.00107097444387968	0.22
18	5396331	A	T	18	5396332	y	n	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon16:c.T2176A:p.S726T;EPB41L3:NM_001281533:exon18:c.T2335A:p.S779T;EPB41L3:NM_001281535:exon18:c.T1849A:p.S617T;EPB41L3:NM_012307:exon19:c.T2842A:p.S948T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon7:c.T733A:p.S245T;ENSG00000082397:ENST00000342933:exon19:c.T2842A:p.S948T;ENSG00000082397:ENST00000341928:exon19:c.T2842A:p.S948T;ENSG00000082397:ENST00000544123:exon18:c.T2335A:p.S779T;ENSG00000082397:ENST00000540638:exon16:c.T2176A:p.S726T;ENSG00000082397:ENST00000542146:exon7:c.T757A:p.S253T;ENSG00000082397:ENST00000400111:exon16:c.T2176A:p.S726T;	7.96651288259536E-5	0.0
18	5396332	C	A	18	5396333	y	n	splicing	EPB41L3(NM_001281535:exon19:c.1849-1G>T;NM_001281533:exon19:c.2335-1G>T;NM_012307:exon20:c.2842-1G>T;NM_001281534:exon17:c.2176-1G>T)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon20:c.2842-1G>T;ENST00000544123:exon19:c.2335-1G>T;ENST00000540638:exon17:c.2176-1G>T;ENST00000427684:exon8:c.733-1G>T;ENST00000542146:exon8:c.757-1G>T;ENST00000400111:exon17:c.2176-1G>T;ENST00000342933:exon20:c.2842-1G>T)	unknown	UNKNOWN	0.999992425382947	0.94
18	5396332	C	G	18	5396333	y	n	splicing	EPB41L3(NM_001281535:exon19:c.1849-1G>C;NM_001281533:exon19:c.2335-1G>C;NM_012307:exon20:c.2842-1G>C;NM_001281534:exon17:c.2176-1G>C)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon20:c.2842-1G>C;ENST00000544123:exon19:c.2335-1G>C;ENST00000540638:exon17:c.2176-1G>C;ENST00000427684:exon8:c.733-1G>C;ENST00000542146:exon8:c.757-1G>C;ENST00000400111:exon17:c.2176-1G>C;ENST00000342933:exon20:c.2842-1G>C)	unknown	UNKNOWN	0.999992425382947	0.94
18	5396332	C	T	18	5396333	y	n	splicing	EPB41L3(NM_001281535:exon19:c.1849-1G>A;NM_001281533:exon19:c.2335-1G>A;NM_012307:exon20:c.2842-1G>A;NM_001281534:exon17:c.2176-1G>A)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon20:c.2842-1G>A;ENST00000544123:exon19:c.2335-1G>A;ENST00000540638:exon17:c.2176-1G>A;ENST00000427684:exon8:c.733-1G>A;ENST00000542146:exon8:c.757-1G>A;ENST00000400111:exon17:c.2176-1G>A;ENST00000342933:exon20:c.2842-1G>A)	unknown	UNKNOWN	0.999992425382947	0.938
18	5396333	T	A	18	5396334	y	n	splicing	EPB41L3(NM_001281535:exon19:c.1849-2A>T;NM_001281533:exon19:c.2335-2A>T;NM_012307:exon20:c.2842-2A>T;NM_001281534:exon17:c.2176-2A>T)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon20:c.2842-2A>T;ENST00000544123:exon19:c.2335-2A>T;ENST00000540638:exon17:c.2176-2A>T;ENST00000427684:exon8:c.733-2A>T;ENST00000542146:exon8:c.757-2A>T;ENST00000400111:exon17:c.2176-2A>T;ENST00000342933:exon20:c.2842-2A>T)	unknown	UNKNOWN	0.999990764389106	0.942
18	5396333	T	C	18	5396334	y	n	splicing	EPB41L3(NM_001281535:exon19:c.1849-2A>G;NM_001281533:exon19:c.2335-2A>G;NM_012307:exon20:c.2842-2A>G;NM_001281534:exon17:c.2176-2A>G)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon20:c.2842-2A>G;ENST00000544123:exon19:c.2335-2A>G;ENST00000540638:exon17:c.2176-2A>G;ENST00000427684:exon8:c.733-2A>G;ENST00000542146:exon8:c.757-2A>G;ENST00000400111:exon17:c.2176-2A>G;ENST00000342933:exon20:c.2842-2A>G)	unknown	UNKNOWN	0.999990764389106	0.942
18	5396333	T	G	18	5396334	y	n	splicing	EPB41L3(NM_001281535:exon19:c.1849-2A>C;NM_001281533:exon19:c.2335-2A>C;NM_012307:exon20:c.2842-2A>C;NM_001281534:exon17:c.2176-2A>C)	.	.	exonic;splicing	ENSG00000082397;ENSG00000082397(ENST00000341928:exon20:c.2842-2A>C;ENST00000544123:exon19:c.2335-2A>C;ENST00000540638:exon17:c.2176-2A>C;ENST00000427684:exon8:c.733-2A>C;ENST00000542146:exon8:c.757-2A>C;ENST00000400111:exon17:c.2176-2A>C;ENST00000342933:exon20:c.2842-2A>C)	unknown	UNKNOWN	0.999990764389106	0.942
18	5396334	G	A	18	5396335	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.21043801566128	0.222
18	5396334	G	C	18	5396335	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999903719274224	0.968
18	5396334	G	T	18	5396335	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999713080345345	0.984
18	5396335	T	A	18	5396336	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00483897280484542	0.286
18	5396335	T	C	18	5396336	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.56454959524381E-4	0.178
18	5396335	T	G	18	5396336	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.17664379628808E-4	0.128
18	5396336	G	A	18	5396337	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.85399695582323E-5	0.008
18	5396336	G	C	18	5396337	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00169152398032189	0.144
18	5396336	G	T	18	5396337	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00133164969572617	0.168
18	5396337	C	A	18	5396338	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00693609820820566	0.152
18	5396337	C	G	18	5396338	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00777241276767931	0.154
18	5396337	C	T	18	5396338	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00863871472346532	0.136
18	5396338	C	A	18	5396339	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.165195976145237	0.334
18	5396338	C	G	18	5396339	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.145648944527525	0.404
18	5396338	C	T	18	5396339	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999801774618283	0.928
18	5396339	A	C	18	5396340	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0817171052917457	0.296
18	5396339	A	G	18	5396340	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.51737407250836E-4	0.124
18	5396339	A	T	18	5396340	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999954331944007	0.938
18	5396340	A	C	18	5396341	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.243269021206265	0.434
18	5396340	A	G	18	5396341	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.86179362735208E-5	0.09
18	5396340	A	T	18	5396341	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.596071021599967	0.476
18	5396341	A	C	18	5396342	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00332907376265977	0.37
18	5396341	A	G	18	5396342	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.36798924599288E-4	0.184
18	5396341	A	T	18	5396342	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0223756823710989	0.354
18	5396342	G	A	18	5396343	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.66337905952416E-4	0.216
18	5396342	G	C	18	5396343	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.45893019168553E-4	0.128
18	5396342	G	T	18	5396343	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0010577192150447	0.156
18	5396343	G	A	18	5396344	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.36713870422142E-4	0.088
18	5396343	G	C	18	5396344	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.88750331862745E-4	0.176
18	5396343	G	T	18	5396344	y	n	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00109178529919076	0.228
18	5397049	C	A	18	5397050	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.07034865726457E-5	0.002
18	5397049	C	G	18	5397050	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.09506374720607E-5	0.008
18	5397049	C	T	18	5397050	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.11046174579444E-5	0.002
18	5397050	T	A	18	5397051	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.94581645191786E-4	0.068
18	5397050	T	C	18	5397051	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.59204927254703E-5	0.056
18	5397050	T	G	18	5397051	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.7718548018158E-5	0.002
18	5397051	A	C	18	5397052	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00366585509334665	0.256
18	5397051	A	G	18	5397052	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.138416091236356	0.228
18	5397051	A	T	18	5397052	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0611823553296611	0.23
18	5397052	G	A	18	5397053	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.52824300572399E-4	0.016
18	5397052	G	C	18	5397053	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.00082814741614E-4	0.038
18	5397052	G	T	18	5397053	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00106400410431916	0.034
18	5397053	T	A	18	5397054	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.558728149848416	0.422
18	5397053	T	C	18	5397054	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.954774775944246	0.64
18	5397053	T	G	18	5397054	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.712815117976198	0.44
18	5397054	T	A	18	5397055	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999878999781392	0.898
18	5397054	T	C	18	5397055	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998366279264552	0.942
18	5397054	T	G	18	5397055	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999933470572655	0.924
18	5397055	A	C	18	5397056	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1848+2T>G;NM_001281533:exon18:c.2334+2T>G;NM_012307:exon19:c.2841+2T>G;NM_001281534:exon16:c.2175+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2841+2T>G;ENST00000544123:exon18:c.2334+2T>G;ENST00000540638:exon16:c.2175+2T>G;ENST00000427684:exon7:c.732+2T>G;ENST00000542146:exon7:c.756+2T>G;ENST00000400111:exon16:c.2175+2T>G;ENST00000342933:exon19:c.2841+2T>G)	.	.	0.999988247793601	0.926
18	5397055	A	G	18	5397056	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1848+2T>C;NM_001281533:exon18:c.2334+2T>C;NM_012307:exon19:c.2841+2T>C;NM_001281534:exon16:c.2175+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2841+2T>C;ENST00000544123:exon18:c.2334+2T>C;ENST00000540638:exon16:c.2175+2T>C;ENST00000427684:exon7:c.732+2T>C;ENST00000542146:exon7:c.756+2T>C;ENST00000400111:exon16:c.2175+2T>C;ENST00000342933:exon19:c.2841+2T>C)	.	.	0.990421288966688	0.628
18	5397055	A	T	18	5397056	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1848+2T>A;NM_001281533:exon18:c.2334+2T>A;NM_012307:exon19:c.2841+2T>A;NM_001281534:exon16:c.2175+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2841+2T>A;ENST00000544123:exon18:c.2334+2T>A;ENST00000540638:exon16:c.2175+2T>A;ENST00000427684:exon7:c.732+2T>A;ENST00000542146:exon7:c.756+2T>A;ENST00000400111:exon16:c.2175+2T>A;ENST00000342933:exon19:c.2841+2T>A)	.	.	0.999988247793601	0.926
18	5397056	C	A	18	5397057	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1848+1G>T;NM_001281533:exon18:c.2334+1G>T;NM_012307:exon19:c.2841+1G>T;NM_001281534:exon16:c.2175+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2841+1G>T;ENST00000544123:exon18:c.2334+1G>T;ENST00000540638:exon16:c.2175+1G>T;ENST00000427684:exon7:c.732+1G>T;ENST00000542146:exon7:c.756+1G>T;ENST00000400111:exon16:c.2175+1G>T;ENST00000342933:exon19:c.2841+1G>T)	.	.	0.999986675681007	0.93
18	5397056	C	G	18	5397057	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1848+1G>C;NM_001281533:exon18:c.2334+1G>C;NM_012307:exon19:c.2841+1G>C;NM_001281534:exon16:c.2175+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2841+1G>C;ENST00000544123:exon18:c.2334+1G>C;ENST00000540638:exon16:c.2175+1G>C;ENST00000427684:exon7:c.732+1G>C;ENST00000542146:exon7:c.756+1G>C;ENST00000400111:exon16:c.2175+1G>C;ENST00000342933:exon19:c.2841+1G>C)	.	.	0.999986675681007	0.93
18	5397056	C	T	18	5397057	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1848+1G>A;NM_001281533:exon18:c.2334+1G>A;NM_012307:exon19:c.2841+1G>A;NM_001281534:exon16:c.2175+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2841+1G>A;ENST00000544123:exon18:c.2334+1G>A;ENST00000540638:exon16:c.2175+1G>A;ENST00000427684:exon7:c.732+1G>A;ENST00000542146:exon7:c.756+1G>A;ENST00000400111:exon16:c.2175+1G>A;ENST00000342933:exon19:c.2841+1G>A)	.	.	0.999986675681007	0.932
18	5397057	C	A	18	5397058	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.G2175T:p.E725D;EPB41L3:NM_001281533:exon17:c.G2334T:p.E778D;EPB41L3:NM_001281535:exon17:c.G1848T:p.E616D;EPB41L3:NM_012307:exon18:c.G2841T:p.E947D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.G732T:p.E244D;ENSG00000082397:ENST00000342933:exon18:c.G2841T:p.E947D;ENSG00000082397:ENST00000341928:exon18:c.G2841T:p.E947D;ENSG00000082397:ENST00000544123:exon17:c.G2334T:p.E778D;ENSG00000082397:ENST00000540638:exon15:c.G2175T:p.E725D;ENSG00000082397:ENST00000542146:exon6:c.G756T:p.E252D;ENSG00000082397:ENST00000400111:exon15:c.G2175T:p.E725D;	0.999943009870029	0.978
18	5397057	C	G	18	5397058	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.G2175C:p.E725D;EPB41L3:NM_001281533:exon17:c.G2334C:p.E778D;EPB41L3:NM_001281535:exon17:c.G1848C:p.E616D;EPB41L3:NM_012307:exon18:c.G2841C:p.E947D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.G732C:p.E244D;ENSG00000082397:ENST00000342933:exon18:c.G2841C:p.E947D;ENSG00000082397:ENST00000341928:exon18:c.G2841C:p.E947D;ENSG00000082397:ENST00000544123:exon17:c.G2334C:p.E778D;ENSG00000082397:ENST00000540638:exon15:c.G2175C:p.E725D;ENSG00000082397:ENST00000542146:exon6:c.G756C:p.E252D;ENSG00000082397:ENST00000400111:exon15:c.G2175C:p.E725D;	0.99998815797875	0.962
18	5397057	C	T	18	5397058	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon15:c.G2175A:p.E725E;EPB41L3:NM_001281533:exon17:c.G2334A:p.E778E;EPB41L3:NM_001281535:exon17:c.G1848A:p.E616E;EPB41L3:NM_012307:exon18:c.G2841A:p.E947E;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.G732A:p.E244E;ENSG00000082397:ENST00000342933:exon18:c.G2841A:p.E947E;ENSG00000082397:ENST00000341928:exon18:c.G2841A:p.E947E;ENSG00000082397:ENST00000544123:exon17:c.G2334A:p.E778E;ENSG00000082397:ENST00000540638:exon15:c.G2175A:p.E725E;ENSG00000082397:ENST00000542146:exon6:c.G756A:p.E252E;ENSG00000082397:ENST00000400111:exon15:c.G2175A:p.E725E;	0.999652697619362	0.996
18	5397058	T	A	18	5397059	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A2174T:p.E725V;EPB41L3:NM_001281533:exon17:c.A2333T:p.E778V;EPB41L3:NM_001281535:exon17:c.A1847T:p.E616V;EPB41L3:NM_012307:exon18:c.A2840T:p.E947V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.A731T:p.E244V;ENSG00000082397:ENST00000342933:exon18:c.A2840T:p.E947V;ENSG00000082397:ENST00000341928:exon18:c.A2840T:p.E947V;ENSG00000082397:ENST00000544123:exon17:c.A2333T:p.E778V;ENSG00000082397:ENST00000540638:exon15:c.A2174T:p.E725V;ENSG00000082397:ENST00000542146:exon6:c.A755T:p.E252V;ENSG00000082397:ENST00000400111:exon15:c.A2174T:p.E725V;	0.999910103396109	0.992
18	5397058	T	C	18	5397059	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A2174G:p.E725G;EPB41L3:NM_001281533:exon17:c.A2333G:p.E778G;EPB41L3:NM_001281535:exon17:c.A1847G:p.E616G;EPB41L3:NM_012307:exon18:c.A2840G:p.E947G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.A731G:p.E244G;ENSG00000082397:ENST00000342933:exon18:c.A2840G:p.E947G;ENSG00000082397:ENST00000341928:exon18:c.A2840G:p.E947G;ENSG00000082397:ENST00000544123:exon17:c.A2333G:p.E778G;ENSG00000082397:ENST00000540638:exon15:c.A2174G:p.E725G;ENSG00000082397:ENST00000542146:exon6:c.A755G:p.E252G;ENSG00000082397:ENST00000400111:exon15:c.A2174G:p.E725G;	0.999642805041963	0.966
18	5397058	T	G	18	5397059	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A2174C:p.E725A;EPB41L3:NM_001281533:exon17:c.A2333C:p.E778A;EPB41L3:NM_001281535:exon17:c.A1847C:p.E616A;EPB41L3:NM_012307:exon18:c.A2840C:p.E947A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.A731C:p.E244A;ENSG00000082397:ENST00000342933:exon18:c.A2840C:p.E947A;ENSG00000082397:ENST00000341928:exon18:c.A2840C:p.E947A;ENSG00000082397:ENST00000544123:exon17:c.A2333C:p.E778A;ENSG00000082397:ENST00000540638:exon15:c.A2174C:p.E725A;ENSG00000082397:ENST00000542146:exon6:c.A755C:p.E252A;ENSG00000082397:ENST00000400111:exon15:c.A2174C:p.E725A;	0.999691609422362	0.992
18	5397059	C	A	18	5397060	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon15:c.G2173T:p.E725X;EPB41L3:NM_001281533:exon17:c.G2332T:p.E778X;EPB41L3:NM_001281535:exon17:c.G1846T:p.E616X;EPB41L3:NM_012307:exon18:c.G2839T:p.E947X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000427684:exon6:c.G730T:p.E244X;ENSG00000082397:ENST00000342933:exon18:c.G2839T:p.E947X;ENSG00000082397:ENST00000341928:exon18:c.G2839T:p.E947X;ENSG00000082397:ENST00000544123:exon17:c.G2332T:p.E778X;ENSG00000082397:ENST00000540638:exon15:c.G2173T:p.E725X;ENSG00000082397:ENST00000542146:exon6:c.G754T:p.E252X;ENSG00000082397:ENST00000400111:exon15:c.G2173T:p.E725X;	0.97687970325372	0.826
18	5397059	C	G	18	5397060	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.G2173C:p.E725Q;EPB41L3:NM_001281533:exon17:c.G2332C:p.E778Q;EPB41L3:NM_001281535:exon17:c.G1846C:p.E616Q;EPB41L3:NM_012307:exon18:c.G2839C:p.E947Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.G730C:p.E244Q;ENSG00000082397:ENST00000342933:exon18:c.G2839C:p.E947Q;ENSG00000082397:ENST00000341928:exon18:c.G2839C:p.E947Q;ENSG00000082397:ENST00000544123:exon17:c.G2332C:p.E778Q;ENSG00000082397:ENST00000540638:exon15:c.G2173C:p.E725Q;ENSG00000082397:ENST00000542146:exon6:c.G754C:p.E252Q;ENSG00000082397:ENST00000400111:exon15:c.G2173C:p.E725Q;	0.936128798355397	0.774
18	5397059	C	T	18	5397060	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.G2173A:p.E725K;EPB41L3:NM_001281533:exon17:c.G2332A:p.E778K;EPB41L3:NM_001281535:exon17:c.G1846A:p.E616K;EPB41L3:NM_012307:exon18:c.G2839A:p.E947K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.G730A:p.E244K;ENSG00000082397:ENST00000342933:exon18:c.G2839A:p.E947K;ENSG00000082397:ENST00000341928:exon18:c.G2839A:p.E947K;ENSG00000082397:ENST00000544123:exon17:c.G2332A:p.E778K;ENSG00000082397:ENST00000540638:exon15:c.G2173A:p.E725K;ENSG00000082397:ENST00000542146:exon6:c.G754A:p.E252K;ENSG00000082397:ENST00000400111:exon15:c.G2173A:p.E725K;	0.932611178542827	0.788
18	5397424	T	A	18	5397425	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A1808T:p.K603I;EPB41L3:NM_001281533:exon17:c.A1967T:p.K656I;EPB41L3:NM_001281535:exon17:c.A1481T:p.K494I;EPB41L3:NM_012307:exon18:c.A2474T:p.K825I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.A365T:p.K122I;ENSG00000082397:ENST00000342933:exon18:c.A2474T:p.K825I;ENSG00000082397:ENST00000341928:exon18:c.A2474T:p.K825I;ENSG00000082397:ENST00000544123:exon17:c.A1967T:p.K656I;ENSG00000082397:ENST00000540638:exon15:c.A1808T:p.K603I;ENSG00000082397:ENST00000542146:exon6:c.A389T:p.K130I;ENSG00000082397:ENST00000400111:exon15:c.A1808T:p.K603I;	0.0634943054275639	0.318
18	5397424	T	C	18	5397425	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A1808G:p.K603R;EPB41L3:NM_001281533:exon17:c.A1967G:p.K656R;EPB41L3:NM_001281535:exon17:c.A1481G:p.K494R;EPB41L3:NM_012307:exon18:c.A2474G:p.K825R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.A365G:p.K122R;ENSG00000082397:ENST00000342933:exon18:c.A2474G:p.K825R;ENSG00000082397:ENST00000341928:exon18:c.A2474G:p.K825R;ENSG00000082397:ENST00000544123:exon17:c.A1967G:p.K656R;ENSG00000082397:ENST00000540638:exon15:c.A1808G:p.K603R;ENSG00000082397:ENST00000542146:exon6:c.A389G:p.K130R;ENSG00000082397:ENST00000400111:exon15:c.A1808G:p.K603R;	0.00537192834416461	0.042
18	5397424	T	G	18	5397425	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A1808C:p.K603T;EPB41L3:NM_001281533:exon17:c.A1967C:p.K656T;EPB41L3:NM_001281535:exon17:c.A1481C:p.K494T;EPB41L3:NM_012307:exon18:c.A2474C:p.K825T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.A365C:p.K122T;ENSG00000082397:ENST00000342933:exon18:c.A2474C:p.K825T;ENSG00000082397:ENST00000341928:exon18:c.A2474C:p.K825T;ENSG00000082397:ENST00000544123:exon17:c.A1967C:p.K656T;ENSG00000082397:ENST00000540638:exon15:c.A1808C:p.K603T;ENSG00000082397:ENST00000542146:exon6:c.A389C:p.K130T;ENSG00000082397:ENST00000400111:exon15:c.A1808C:p.K603T;	0.00473235722645222	0.056
18	5397425	T	A	18	5397426	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon15:c.A1807T:p.K603X;EPB41L3:NM_001281533:exon17:c.A1966T:p.K656X;EPB41L3:NM_001281535:exon17:c.A1480T:p.K494X;EPB41L3:NM_012307:exon18:c.A2473T:p.K825X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000427684:exon6:c.A364T:p.K122X;ENSG00000082397:ENST00000342933:exon18:c.A2473T:p.K825X;ENSG00000082397:ENST00000341928:exon18:c.A2473T:p.K825X;ENSG00000082397:ENST00000544123:exon17:c.A1966T:p.K656X;ENSG00000082397:ENST00000540638:exon15:c.A1807T:p.K603X;ENSG00000082397:ENST00000542146:exon6:c.A388T:p.K130X;ENSG00000082397:ENST00000400111:exon15:c.A1807T:p.K603X;	0.0410859623709539	0.37
18	5397425	T	C	18	5397426	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A1807G:p.K603E;EPB41L3:NM_001281533:exon17:c.A1966G:p.K656E;EPB41L3:NM_001281535:exon17:c.A1480G:p.K494E;EPB41L3:NM_012307:exon18:c.A2473G:p.K825E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.A364G:p.K122E;ENSG00000082397:ENST00000342933:exon18:c.A2473G:p.K825E;ENSG00000082397:ENST00000341928:exon18:c.A2473G:p.K825E;ENSG00000082397:ENST00000544123:exon17:c.A1966G:p.K656E;ENSG00000082397:ENST00000540638:exon15:c.A1807G:p.K603E;ENSG00000082397:ENST00000542146:exon6:c.A388G:p.K130E;ENSG00000082397:ENST00000400111:exon15:c.A1807G:p.K603E;	5.09315805782612E-5	0.002
18	5397425	T	G	18	5397426	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon15:c.A1807C:p.K603Q;EPB41L3:NM_001281533:exon17:c.A1966C:p.K656Q;EPB41L3:NM_001281535:exon17:c.A1480C:p.K494Q;EPB41L3:NM_012307:exon18:c.A2473C:p.K825Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon6:c.A364C:p.K122Q;ENSG00000082397:ENST00000342933:exon18:c.A2473C:p.K825Q;ENSG00000082397:ENST00000341928:exon18:c.A2473C:p.K825Q;ENSG00000082397:ENST00000544123:exon17:c.A1966C:p.K656Q;ENSG00000082397:ENST00000540638:exon15:c.A1807C:p.K603Q;ENSG00000082397:ENST00000542146:exon6:c.A388C:p.K130Q;ENSG00000082397:ENST00000400111:exon15:c.A1807C:p.K603Q;	0.00119258453894109	0.104
18	5397426	C	A	18	5397427	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1480-1G>T;NM_001281533:exon18:c.1966-1G>T;NM_012307:exon19:c.2473-1G>T;NM_001281534:exon16:c.1807-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2473-1G>T;ENST00000544123:exon18:c.1966-1G>T;ENST00000540638:exon16:c.1807-1G>T;ENST00000427684:exon7:c.364-1G>T;ENST00000542146:exon7:c.388-1G>T;ENST00000400111:exon16:c.1807-1G>T;ENST00000342933:exon19:c.2473-1G>T)	.	.	0.999949962508874	0.938
18	5397426	C	G	18	5397427	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1480-1G>C;NM_001281533:exon18:c.1966-1G>C;NM_012307:exon19:c.2473-1G>C;NM_001281534:exon16:c.1807-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2473-1G>C;ENST00000544123:exon18:c.1966-1G>C;ENST00000540638:exon16:c.1807-1G>C;ENST00000427684:exon7:c.364-1G>C;ENST00000542146:exon7:c.388-1G>C;ENST00000400111:exon16:c.1807-1G>C;ENST00000342933:exon19:c.2473-1G>C)	.	.	0.999967358293902	0.936
18	5397426	C	T	18	5397427	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1480-1G>A;NM_001281533:exon18:c.1966-1G>A;NM_012307:exon19:c.2473-1G>A;NM_001281534:exon16:c.1807-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2473-1G>A;ENST00000544123:exon18:c.1966-1G>A;ENST00000540638:exon16:c.1807-1G>A;ENST00000427684:exon7:c.364-1G>A;ENST00000542146:exon7:c.388-1G>A;ENST00000400111:exon16:c.1807-1G>A;ENST00000342933:exon19:c.2473-1G>A)	.	.	0.999949962508874	0.944
18	5397427	T	A	18	5397428	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1480-2A>T;NM_001281533:exon18:c.1966-2A>T;NM_012307:exon19:c.2473-2A>T;NM_001281534:exon16:c.1807-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2473-2A>T;ENST00000544123:exon18:c.1966-2A>T;ENST00000540638:exon16:c.1807-2A>T;ENST00000427684:exon7:c.364-2A>T;ENST00000542146:exon7:c.388-2A>T;ENST00000400111:exon16:c.1807-2A>T;ENST00000342933:exon19:c.2473-2A>T)	.	.	0.999946188727699	0.942
18	5397427	T	C	18	5397428	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1480-2A>G;NM_001281533:exon18:c.1966-2A>G;NM_012307:exon19:c.2473-2A>G;NM_001281534:exon16:c.1807-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2473-2A>G;ENST00000544123:exon18:c.1966-2A>G;ENST00000540638:exon16:c.1807-2A>G;ENST00000427684:exon7:c.364-2A>G;ENST00000542146:exon7:c.388-2A>G;ENST00000400111:exon16:c.1807-2A>G;ENST00000342933:exon19:c.2473-2A>G)	.	.	0.999964896440643	0.94
18	5397427	T	G	18	5397428	y	y	splicing	EPB41L3(NM_001281535:exon18:c.1480-2A>C;NM_001281533:exon18:c.1966-2A>C;NM_012307:exon19:c.2473-2A>C;NM_001281534:exon16:c.1807-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon19:c.2473-2A>C;ENST00000544123:exon18:c.1966-2A>C;ENST00000540638:exon16:c.1807-2A>C;ENST00000427684:exon7:c.364-2A>C;ENST00000542146:exon7:c.388-2A>C;ENST00000400111:exon16:c.1807-2A>C;ENST00000342933:exon19:c.2473-2A>C)	.	.	0.999964896440643	0.94
18	5397428	G	A	18	5397429	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0351453082703805	0.198
18	5397428	G	C	18	5397429	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999739044651597	0.926
18	5397428	G	T	18	5397429	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998145847217817	0.908
18	5397429	C	A	18	5397430	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.50115328333418E-5	0.0
18	5397429	C	G	18	5397430	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.57788198517659E-5	0.002
18	5397429	C	T	18	5397430	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.82290284138447E-5	0.0
18	5397430	A	C	18	5397431	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.994854983291515	0.898
18	5397430	A	G	18	5397431	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.91520346922744E-5	0.0
18	5397430	A	T	18	5397431	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.977462797089999	0.852
18	5397431	T	A	18	5397432	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.47408483585621E-5	0.0
18	5397431	T	C	18	5397432	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.12004639248942E-5	0.006
18	5397431	T	G	18	5397432	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.72805602056204E-5	0.02
18	5397432	G	A	18	5397433	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.69589572260021E-4	0.014
18	5397432	G	C	18	5397433	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00187675635796016	0.07
18	5397432	G	T	18	5397433	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00303632525020057	0.074
18	5397433	G	A	18	5397434	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.79036249429635E-5	0.0
18	5397433	G	C	18	5397434	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00123228317425176	0.07
18	5397433	G	T	18	5397434	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.35982934725943E-4	0.034
18	5397434	G	A	18	5397435	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.94864104797201E-5	0.05
18	5397434	G	C	18	5397435	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0121689302463772	0.18
18	5397434	G	T	18	5397435	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00164715638392052	0.086
18	5397435	A	C	18	5397436	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00208539325891843	0.152
18	5397435	A	G	18	5397436	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.88514441354169E-4	0.048
18	5397435	A	T	18	5397436	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00860273314526998	0.18
18	5397436	A	C	18	5397437	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.09522498319282E-4	0.062
18	5397436	A	G	18	5397437	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.06577821068338E-4	0.026
18	5397436	A	T	18	5397437	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00106775547892993	0.106
18	5397437	G	A	18	5397438	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.0473524635626E-6	0.0
18	5397437	G	C	18	5397438	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.32520528466813E-5	0.032
18	5397437	G	T	18	5397438	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.39216672655894E-4	0.03
18	5398012	A	C	18	5398013	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.3517534346744E-4	0.038
18	5398012	A	G	18	5398013	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.87412345765579E-4	0.044
18	5398012	A	T	18	5398013	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.02018874687798E-4	0.028
18	5398013	T	A	18	5398014	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.82001537492074E-5	0.016
18	5398013	T	C	18	5398014	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.94557342078378E-5	0.018
18	5398013	T	G	18	5398014	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.19549683095322E-5	0.016
18	5398014	G	A	18	5398015	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.98423188418364E-4	0.12
18	5398014	G	C	18	5398015	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.40370359759262E-4	0.106
18	5398014	G	T	18	5398015	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0125588361040009	0.18
18	5398015	G	A	18	5398016	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0179296270393334	0.128
18	5398015	G	C	18	5398016	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.36462491726742E-4	0.004
18	5398015	G	T	18	5398016	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.27978439752394E-4	0.138
18	5398016	C	A	18	5398017	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00193575850281404	0.058
18	5398016	C	G	18	5398017	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00765100156327393	0.408
18	5398016	C	T	18	5398017	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.74520488684174E-4	0.062
18	5398017	C	A	18	5398018	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995223681117986	0.788
18	5398017	C	G	18	5398018	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998624212271258	0.766
18	5398017	C	T	18	5398018	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.150876487466527	0.252
18	5398018	A	C	18	5398019	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1965+2T>G;NM_012307:exon18:c.2472+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2472+2T>G;ENST00000544123:exon17:c.1965+2T>G;ENST00000427684:exon6:c.363+2T>G;ENST00000542146:exon6:c.387+2T>G;ENST00000342933:exon18:c.2472+2T>G)	.	.	0.999952590261929	0.912
18	5398018	A	G	18	5398019	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1965+2T>C;NM_012307:exon18:c.2472+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2472+2T>C;ENST00000544123:exon17:c.1965+2T>C;ENST00000427684:exon6:c.363+2T>C;ENST00000542146:exon6:c.387+2T>C;ENST00000342933:exon18:c.2472+2T>C)	.	.	0.999850689187551	0.86
18	5398018	A	T	18	5398019	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1965+2T>A;NM_012307:exon18:c.2472+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2472+2T>A;ENST00000544123:exon17:c.1965+2T>A;ENST00000427684:exon6:c.363+2T>A;ENST00000542146:exon6:c.387+2T>A;ENST00000342933:exon18:c.2472+2T>A)	.	.	0.999952590261929	0.914
18	5398019	C	A	18	5398020	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1965+1G>T;NM_012307:exon18:c.2472+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2472+1G>T;ENST00000544123:exon17:c.1965+1G>T;ENST00000427684:exon6:c.363+1G>T;ENST00000542146:exon6:c.387+1G>T;ENST00000342933:exon18:c.2472+1G>T)	.	.	0.999989295765589	0.908
18	5398019	C	G	18	5398020	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1965+1G>C;NM_012307:exon18:c.2472+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2472+1G>C;ENST00000544123:exon17:c.1965+1G>C;ENST00000427684:exon6:c.363+1G>C;ENST00000542146:exon6:c.387+1G>C;ENST00000342933:exon18:c.2472+1G>C)	.	.	0.999989295765589	0.908
18	5398019	C	T	18	5398020	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1965+1G>A;NM_012307:exon18:c.2472+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2472+1G>A;ENST00000544123:exon17:c.1965+1G>A;ENST00000427684:exon6:c.363+1G>A;ENST00000542146:exon6:c.387+1G>A;ENST00000342933:exon18:c.2472+1G>A)	.	.	0.999989295765589	0.908
18	5398020	C	A	18	5398021	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.G1965T:p.Q655H;EPB41L3:NM_012307:exon17:c.G2472T:p.Q824H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.G363T:p.Q121H;ENSG00000082397:ENST00000342933:exon17:c.G2472T:p.Q824H;ENSG00000082397:ENST00000341928:exon17:c.G2472T:p.Q824H;ENSG00000082397:ENST00000544123:exon16:c.G1965T:p.Q655H;ENSG00000082397:ENST00000542146:exon5:c.G387T:p.Q129H;	0.999990051839603	0.99
18	5398020	C	G	18	5398021	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.G1965C:p.Q655H;EPB41L3:NM_012307:exon17:c.G2472C:p.Q824H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.G363C:p.Q121H;ENSG00000082397:ENST00000342933:exon17:c.G2472C:p.Q824H;ENSG00000082397:ENST00000341928:exon17:c.G2472C:p.Q824H;ENSG00000082397:ENST00000544123:exon16:c.G1965C:p.Q655H;ENSG00000082397:ENST00000542146:exon5:c.G387C:p.Q129H;	0.999991602139647	0.992
18	5398020	C	T	18	5398021	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281533:exon16:c.G1965A:p.Q655Q;EPB41L3:NM_012307:exon17:c.G2472A:p.Q824Q;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.G363A:p.Q121Q;ENSG00000082397:ENST00000342933:exon17:c.G2472A:p.Q824Q;ENSG00000082397:ENST00000341928:exon17:c.G2472A:p.Q824Q;ENSG00000082397:ENST00000544123:exon16:c.G1965A:p.Q655Q;ENSG00000082397:ENST00000542146:exon5:c.G387A:p.Q129Q;	0.999932963049224	0.98
18	5398021	T	A	18	5398022	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.A1964T:p.Q655L;EPB41L3:NM_012307:exon17:c.A2471T:p.Q824L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.A362T:p.Q121L;ENSG00000082397:ENST00000342933:exon17:c.A2471T:p.Q824L;ENSG00000082397:ENST00000341928:exon17:c.A2471T:p.Q824L;ENSG00000082397:ENST00000544123:exon16:c.A1964T:p.Q655L;ENSG00000082397:ENST00000542146:exon5:c.A386T:p.Q129L;	0.999817585702391	0.964
18	5398021	T	C	18	5398022	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.A1964G:p.Q655R;EPB41L3:NM_012307:exon17:c.A2471G:p.Q824R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.A362G:p.Q121R;ENSG00000082397:ENST00000342933:exon17:c.A2471G:p.Q824R;ENSG00000082397:ENST00000341928:exon17:c.A2471G:p.Q824R;ENSG00000082397:ENST00000544123:exon16:c.A1964G:p.Q655R;ENSG00000082397:ENST00000542146:exon5:c.A386G:p.Q129R;	0.999821344447012	0.952
18	5398021	T	G	18	5398022	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.A1964C:p.Q655P;EPB41L3:NM_012307:exon17:c.A2471C:p.Q824P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.A362C:p.Q121P;ENSG00000082397:ENST00000342933:exon17:c.A2471C:p.Q824P;ENSG00000082397:ENST00000341928:exon17:c.A2471C:p.Q824P;ENSG00000082397:ENST00000544123:exon16:c.A1964C:p.Q655P;ENSG00000082397:ENST00000542146:exon5:c.A386C:p.Q129P;	0.999817585702391	0.97
18	5398022	G	A	18	5398023	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281533:exon16:c.C1963T:p.Q655X;EPB41L3:NM_012307:exon17:c.C2470T:p.Q824X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000427684:exon5:c.C361T:p.Q121X;ENSG00000082397:ENST00000342933:exon17:c.C2470T:p.Q824X;ENSG00000082397:ENST00000341928:exon17:c.C2470T:p.Q824X;ENSG00000082397:ENST00000544123:exon16:c.C1963T:p.Q655X;ENSG00000082397:ENST00000542146:exon5:c.C385T:p.Q129X;	0.999795099135948	0.922
18	5398022	G	C	18	5398023	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.C1963G:p.Q655E;EPB41L3:NM_012307:exon17:c.C2470G:p.Q824E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.C361G:p.Q121E;ENSG00000082397:ENST00000342933:exon17:c.C2470G:p.Q824E;ENSG00000082397:ENST00000341928:exon17:c.C2470G:p.Q824E;ENSG00000082397:ENST00000544123:exon16:c.C1963G:p.Q655E;ENSG00000082397:ENST00000542146:exon5:c.C385G:p.Q129E;	0.330701010936164	0.41
18	5398022	G	T	18	5398023	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.C1963A:p.Q655K;EPB41L3:NM_012307:exon17:c.C2470A:p.Q824K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.C361A:p.Q121K;ENSG00000082397:ENST00000342933:exon17:c.C2470A:p.Q824K;ENSG00000082397:ENST00000341928:exon17:c.C2470A:p.Q824K;ENSG00000082397:ENST00000544123:exon16:c.C1963A:p.Q655K;ENSG00000082397:ENST00000542146:exon5:c.C385A:p.Q129K;	0.969392904453777	0.666
18	5398141	G	A	18	5398142	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.C1844T:p.T615I;EPB41L3:NM_012307:exon17:c.C2351T:p.T784I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.C242T:p.T81I;ENSG00000082397:ENST00000342933:exon17:c.C2351T:p.T784I;ENSG00000082397:ENST00000341928:exon17:c.C2351T:p.T784I;ENSG00000082397:ENST00000544123:exon16:c.C1844T:p.T615I;ENSG00000082397:ENST00000542146:exon5:c.C266T:p.T89I;	0.711947672227314	0.578
18	5398141	G	C	18	5398142	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.C1844G:p.T615S;EPB41L3:NM_012307:exon17:c.C2351G:p.T784S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.C242G:p.T81S;ENSG00000082397:ENST00000342933:exon17:c.C2351G:p.T784S;ENSG00000082397:ENST00000341928:exon17:c.C2351G:p.T784S;ENSG00000082397:ENST00000544123:exon16:c.C1844G:p.T615S;ENSG00000082397:ENST00000542146:exon5:c.C266G:p.T89S;	0.0223634299732871	0.104
18	5398141	G	T	18	5398142	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.C1844A:p.T615N;EPB41L3:NM_012307:exon17:c.C2351A:p.T784N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.C242A:p.T81N;ENSG00000082397:ENST00000342933:exon17:c.C2351A:p.T784N;ENSG00000082397:ENST00000341928:exon17:c.C2351A:p.T784N;ENSG00000082397:ENST00000544123:exon16:c.C1844A:p.T615N;ENSG00000082397:ENST00000542146:exon5:c.C266A:p.T89N;	0.923155644498799	0.62
18	5398142	T	A	18	5398143	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.A1843T:p.T615S;EPB41L3:NM_012307:exon17:c.A2350T:p.T784S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.A241T:p.T81S;ENSG00000082397:ENST00000342933:exon17:c.A2350T:p.T784S;ENSG00000082397:ENST00000341928:exon17:c.A2350T:p.T784S;ENSG00000082397:ENST00000544123:exon16:c.A1843T:p.T615S;ENSG00000082397:ENST00000542146:exon5:c.A265T:p.T89S;	0.857049516007572	0.606
18	5398142	T	C	18	5398143	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.A1843G:p.T615A;EPB41L3:NM_012307:exon17:c.A2350G:p.T784A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.A241G:p.T81A;ENSG00000082397:ENST00000342933:exon17:c.A2350G:p.T784A;ENSG00000082397:ENST00000341928:exon17:c.A2350G:p.T784A;ENSG00000082397:ENST00000544123:exon16:c.A1843G:p.T615A;ENSG00000082397:ENST00000542146:exon5:c.A265G:p.T89A;	0.266769518618698	0.47
18	5398142	T	G	18	5398143	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon16:c.A1843C:p.T615P;EPB41L3:NM_012307:exon17:c.A2350C:p.T784P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon5:c.A241C:p.T81P;ENSG00000082397:ENST00000342933:exon17:c.A2350C:p.T784P;ENSG00000082397:ENST00000341928:exon17:c.A2350C:p.T784P;ENSG00000082397:ENST00000544123:exon16:c.A1843C:p.T615P;ENSG00000082397:ENST00000542146:exon5:c.A265C:p.T89P;	0.90363978631114	0.66
18	5398143	C	A	18	5398144	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1843-1G>T;NM_012307:exon18:c.2350-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2350-1G>T;ENST00000544123:exon17:c.1843-1G>T;ENST00000427684:exon6:c.241-1G>T;ENST00000542146:exon6:c.265-1G>T;ENST00000342933:exon18:c.2350-1G>T)	.	.	0.999990361384395	0.936
18	5398143	C	G	18	5398144	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1843-1G>C;NM_012307:exon18:c.2350-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2350-1G>C;ENST00000544123:exon17:c.1843-1G>C;ENST00000427684:exon6:c.241-1G>C;ENST00000542146:exon6:c.265-1G>C;ENST00000342933:exon18:c.2350-1G>C)	.	.	0.999990361384395	0.936
18	5398143	C	T	18	5398144	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1843-1G>A;NM_012307:exon18:c.2350-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2350-1G>A;ENST00000544123:exon17:c.1843-1G>A;ENST00000427684:exon6:c.241-1G>A;ENST00000542146:exon6:c.265-1G>A;ENST00000342933:exon18:c.2350-1G>A)	.	.	0.999990361384395	0.936
18	5398144	T	A	18	5398145	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1843-2A>T;NM_012307:exon18:c.2350-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2350-2A>T;ENST00000544123:exon17:c.1843-2A>T;ENST00000427684:exon6:c.241-2A>T;ENST00000542146:exon6:c.265-2A>T;ENST00000342933:exon18:c.2350-2A>T)	.	.	0.999988247793601	0.93
18	5398144	T	C	18	5398145	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1843-2A>G;NM_012307:exon18:c.2350-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2350-2A>G;ENST00000544123:exon17:c.1843-2A>G;ENST00000427684:exon6:c.241-2A>G;ENST00000542146:exon6:c.265-2A>G;ENST00000342933:exon18:c.2350-2A>G)	.	.	0.999988247793601	0.93
18	5398144	T	G	18	5398145	y	y	splicing	EPB41L3(NM_001281533:exon17:c.1843-2A>C;NM_012307:exon18:c.2350-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon18:c.2350-2A>C;ENST00000544123:exon17:c.1843-2A>C;ENST00000427684:exon6:c.241-2A>C;ENST00000542146:exon6:c.265-2A>C;ENST00000342933:exon18:c.2350-2A>C)	.	.	0.999988247793601	0.93
18	5398145	G	A	18	5398146	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0649917327731543	0.092
18	5398145	G	C	18	5398146	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999920324177538	0.972
18	5398145	G	T	18	5398146	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999635253282	0.856
18	5398146	A	C	18	5398147	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.98939904527089E-5	0.012
18	5398146	A	G	18	5398147	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.73700949878545E-4	0.004
18	5398146	A	T	18	5398147	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.59588891849874E-4	0.004
18	5398147	G	A	18	5398148	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.64086440434464E-4	0.036
18	5398147	G	C	18	5398148	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999951108025241	0.974
18	5398147	G	T	18	5398148	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0155435153256561	0.128
18	5398148	T	A	18	5398149	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.66322224163653E-4	0.004
18	5398148	T	C	18	5398149	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.39309409982995E-4	0.022
18	5398148	T	G	18	5398149	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.05139533911292E-4	0.046
18	5398149	G	A	18	5398150	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.03749175382645E-4	0.076
18	5398149	G	C	18	5398150	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.183069514209703	0.232
18	5398149	G	T	18	5398150	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.541366757547072	0.222
18	5398150	A	C	18	5398151	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00318186664980809	0.094
18	5398150	A	G	18	5398151	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.45860503321311E-5	0.058
18	5398150	A	T	18	5398151	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0174674717938055	0.11
18	5398151	A	C	18	5398152	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.975111831875439	0.718
18	5398151	A	G	18	5398152	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00119097518921677	0.072
18	5398151	A	T	18	5398152	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.937620626492194	0.67
18	5398152	C	A	18	5398153	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.19953192357118E-4	0.06
18	5398152	C	G	18	5398153	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.67024268673985E-4	0.052
18	5398152	C	T	18	5398153	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0236062875479679	0.21
18	5398153	A	C	18	5398154	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99901167589068	0.894
18	5398153	A	G	18	5398154	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.632896178744518	0.368
18	5398153	A	T	18	5398154	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999985655472547	0.97
18	5398154	A	C	18	5398155	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00823014359377083	0.344
18	5398154	A	G	18	5398155	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.2905511947958E-4	0.04
18	5398154	A	T	18	5398155	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.105130347970195	0.31
18	5400488	A	C	18	5400489	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0045802311785222	0.026
18	5400488	A	G	18	5400489	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0045802311785222	0.04
18	5400488	A	T	18	5400489	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0045802311785222	0.018
18	5400489	G	A	18	5400490	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.36692957815315E-4	0.086
18	5400489	G	C	18	5400490	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.70797531276784E-4	0.086
18	5400489	G	T	18	5400490	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.36692957815315E-4	0.086
18	5400490	A	C	18	5400491	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00676312259178108	0.024
18	5400490	A	G	18	5400491	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00676312259178108	0.022
18	5400490	A	T	18	5400491	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.006894648927926	0.022
18	5400491	A	C	18	5400492	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.96737020304725E-5	0.0
18	5400491	A	G	18	5400492	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.96737020304725E-5	0.0
18	5400491	A	T	18	5400492	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.96737020304725E-5	0.0
18	5400492	T	A	18	5400493	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0255974694697583	0.066
18	5400492	T	C	18	5400493	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.018930585655634	0.036
18	5400492	T	G	18	5400493	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.018930585655634	0.04
18	5400493	A	C	18	5400494	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.91335385279169E-4	0.006
18	5400493	A	G	18	5400494	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.91335385279169E-4	0.006
18	5400493	A	T	18	5400494	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.91335385279169E-4	0.006
18	5400494	A	C	18	5400495	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.264+2T>G)	.	.	0.92961721136914	0.78
18	5400494	A	G	18	5400495	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.264+2T>C)	.	.	0.92961721136914	0.78
18	5400494	A	T	18	5400495	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.264+2T>A)	.	.	0.92961721136914	0.768
18	5400495	C	A	18	5400496	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.264+1G>T)	.	.	0.992648088255867	0.86
18	5400495	C	G	18	5400496	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.264+1G>C)	.	.	0.992648088255867	0.854
18	5400495	C	T	18	5400496	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.264+1G>A)	.	.	0.993733916693694	0.87
18	5400496	C	A	18	5400497	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.G264T:p.E88D;	0.992648088255867	0.86
18	5400496	C	G	18	5400497	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.G264C:p.E88D;	0.992648088255867	0.854
18	5400496	C	T	18	5400497	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.G264A:p.E88E;	0.610175718888826	0.352
18	5400497	T	A	18	5400498	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.A263T:p.E88V;	0.0302399206701341	0.194
18	5400497	T	C	18	5400498	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.A263G:p.E88G;	0.0199063151013829	0.186
18	5400497	T	G	18	5400498	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.A263C:p.E88A;	0.00133757912346677	0.024
18	5400498	C	A	18	5400499	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000542146:exon4:c.G262T:p.E88X;	0.995618830681449	0.958
18	5400498	C	G	18	5400499	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.G262C:p.E88Q;	0.965239447252702	0.796
18	5400498	C	T	18	5400499	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.G262A:p.E88K;	0.993733916693694	0.866
18	5400593	G	A	18	5400594	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.C167T:p.P56L;	3.5032315332639E-4	0.048
18	5400593	G	C	18	5400594	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.C167G:p.P56R;	2.22381014789039E-4	0.106
18	5400593	G	T	18	5400594	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.C167A:p.P56Q;	3.63993120321087E-4	0.076
18	5400594	G	A	18	5400595	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.C166T:p.P56S;	0.00649020451620154	0.064
18	5400594	G	C	18	5400595	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.C166G:p.P56A;	0.00368628214496922	0.072
18	5400594	G	T	18	5400595	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000542146:exon4:c.C166A:p.P56T;	0.00381218198832559	0.074
18	5400595	C	A	18	5400596	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.166-1G>T)	.	.	0.909582474685508	0.686
18	5400595	C	G	18	5400596	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.166-1G>C)	.	.	0.854692461063913	0.732
18	5400595	C	T	18	5400596	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.166-1G>A)	.	.	0.909582474685508	0.716
18	5400596	T	A	18	5400597	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.166-2A>T)	.	.	0.709124513326546	0.648
18	5400596	T	C	18	5400597	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.166-2A>G)	.	.	0.625546950302194	0.514
18	5400596	T	G	18	5400597	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000542146:exon5:c.166-2A>C)	.	.	0.625546950302194	0.522
18	5400597	A	C	18	5400598	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00123321101887118	0.006
18	5400597	A	G	18	5400598	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00123321101887118	0.006
18	5400597	A	T	18	5400598	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00147476233483463	0.006
18	5400598	G	A	18	5400599	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.00961143325455E-4	0.01
18	5400598	G	C	18	5400599	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.44101454748109E-4	0.038
18	5400598	G	T	18	5400599	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.44101454748109E-4	0.004
18	5400599	T	A	18	5400600	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00122103863073255	0.002
18	5400599	T	C	18	5400600	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0012338591716885	0.0
18	5400599	T	G	18	5400600	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0012338591716885	0.0
18	5400600	G	A	18	5400601	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.60439309428172E-4	0.03
18	5400600	G	C	18	5400601	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.55324152907175E-4	0.018
18	5400600	G	T	18	5400601	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.55324152907175E-4	0.016
18	5400601	G	A	18	5400602	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.35428655471156E-5	0.002
18	5400601	G	C	18	5400602	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.35428655471156E-5	0.004
18	5400601	G	T	18	5400602	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.35428655471156E-5	0.002
18	5400602	G	A	18	5400603	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.03334260509943E-4	0.002
18	5400602	G	C	18	5400603	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.09218706544067E-5	0.002
18	5400602	G	T	18	5400603	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.98539574418579E-5	0.002
18	5400603	G	A	18	5400604	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.54918145166468E-4	0.012
18	5400603	G	C	18	5400604	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.54918145166468E-4	0.02
18	5400603	G	T	18	5400604	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.54918145166468E-4	0.012
18	5400604	A	C	18	5400605	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00261227525547131	0.03
18	5400604	A	G	18	5400605	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00261227525547131	0.034
18	5400604	A	T	18	5400605	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00261227525547131	0.096
18	5400605	A	C	18	5400606	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.366772898497109	0.546
18	5400605	A	G	18	5400606	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.366772898497109	0.484
18	5400605	A	T	18	5400606	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.49803364091546	0.664
18	5400606	A	C	18	5400607	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00261227525547131	0.022
18	5400606	A	G	18	5400607	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00170069162291012	0.01
18	5400606	A	T	18	5400607	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00261227525547131	0.084
18	5400960	G	A	18	5400961	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.41254783179219E-5	0.0
18	5400960	G	C	18	5400961	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.06845020714709E-5	0.0
18	5400960	G	T	18	5400961	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.41254783179219E-5	0.0
18	5400961	T	A	18	5400962	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.88792927944474E-4	0.008
18	5400961	T	C	18	5400962	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.88792927944474E-4	0.024
18	5400961	T	G	18	5400962	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.88792927944474E-4	0.006
18	5400962	T	A	18	5400963	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0388488908932294	0.154
18	5400962	T	C	18	5400963	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0275127247699427	0.082
18	5400962	T	G	18	5400963	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0275127247699427	0.086
18	5400963	T	A	18	5400964	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.5672911410081E-4	0.008
18	5400963	T	C	18	5400964	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.5672911410081E-4	0.008
18	5400963	T	G	18	5400964	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.5672911410081E-4	0.008
18	5400964	T	A	18	5400965	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0269543068628963	0.14
18	5400964	T	C	18	5400965	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0225415829961547	0.05
18	5400964	T	G	18	5400965	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0225415829961547	0.048
18	5400965	T	A	18	5400966	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0828302955216034	0.398
18	5400965	T	C	18	5400966	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0269543068628963	0.15
18	5400965	T	G	18	5400966	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0269543068628963	0.146
18	5400966	A	C	18	5400967	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.240+2T>G)	.	.	0.826586052674101	0.72
18	5400966	A	G	18	5400967	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.240+2T>C)	.	.	0.826586052674101	0.72
18	5400966	A	T	18	5400967	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.240+2T>A)	.	.	0.826586052674101	0.72
18	5400967	C	A	18	5400968	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.240+1G>T)	.	.	0.990805456873375	0.902
18	5400967	C	G	18	5400968	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.240+1G>C)	.	.	0.990805456873375	0.896
18	5400967	C	T	18	5400968	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.240+1G>A)	.	.	0.989761836749934	0.92
18	5400968	C	A	18	5400969	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.G240T:p.Q80H;	0.945007378795476	0.808
18	5400968	C	G	18	5400969	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.G240C:p.Q80H;	0.93049346285218	0.77
18	5400968	C	T	18	5400969	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.G240A:p.Q80Q;	0.0926442387660014	0.23
18	5400969	T	A	18	5400970	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.A239T:p.Q80L;	0.584668759915923	0.66
18	5400969	T	C	18	5400970	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.A239G:p.Q80R;	0.195978864394551	0.436
18	5400969	T	G	18	5400970	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.A239C:p.Q80P;	0.0828302955216034	0.37
18	5400970	G	A	18	5400971	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000427684:exon4:c.C238T:p.Q80X;	0.991890624474078	0.956
18	5400970	G	C	18	5400971	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.C238G:p.Q80E;	0.00221355711250712	0.058
18	5400970	G	T	18	5400971	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.C238A:p.Q80K;	0.0210715299483078	0.066
18	5401041	G	A	18	5401042	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.C167T:p.T56I;	0.992474646220614	0.872
18	5401041	G	C	18	5401042	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.C167G:p.T56S;	0.983394749551851	0.87
18	5401041	G	T	18	5401042	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.C167A:p.T56N;	0.992474646220614	0.874
18	5401042	T	A	18	5401043	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.A166T:p.T56S;	0.881847928508037	0.682
18	5401042	T	C	18	5401043	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.A166G:p.T56A;	0.897610241732012	0.686
18	5401042	T	G	18	5401043	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon4:c.A166C:p.T56P;	0.897610241732012	0.694
18	5401043	C	A	18	5401044	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.166-1G>T)	.	.	0.991423892014245	0.93
18	5401043	C	G	18	5401044	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.166-1G>C)	.	.	0.993349593042562	0.93
18	5401043	C	T	18	5401044	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.166-1G>A)	.	.	0.991423892014245	0.928
18	5401044	T	A	18	5401045	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.166-2A>T)	.	.	0.893928678063627	0.752
18	5401044	T	C	18	5401045	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.166-2A>G)	.	.	0.915888928777796	0.734
18	5401044	T	G	18	5401045	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000427684:exon5:c.166-2A>C)	.	.	0.915888928777796	0.744
18	5401045	G	A	18	5401046	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.909582474685508	0.73
18	5401045	G	C	18	5401046	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.909582474685508	0.698
18	5401045	G	T	18	5401046	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.909582474685508	0.696
18	5401046	T	A	18	5401047	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.379090011403407	0.484
18	5401046	T	C	18	5401047	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.379090011403407	0.444
18	5401046	T	G	18	5401047	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.379090011403407	0.444
18	5401047	T	A	18	5401048	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.643635037366171	0.574
18	5401047	T	C	18	5401048	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.440341893896049	0.458
18	5401047	T	G	18	5401048	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.440341893896049	0.46
18	5401048	T	A	18	5401049	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.440341893896049	0.46
18	5401048	T	C	18	5401049	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.349736906072398	0.476
18	5401048	T	G	18	5401049	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.349736906072398	0.494
18	5401049	G	A	18	5401050	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.28660734782273E-4	0.006
18	5401049	G	C	18	5401050	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.28660734782273E-4	0.006
18	5401049	G	T	18	5401050	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.28660734782273E-4	0.006
18	5401050	A	C	18	5401051	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00439645863166891	0.09
18	5401050	A	G	18	5401051	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00439645863166891	0.102
18	5401050	A	T	18	5401051	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00701936712456089	0.086
18	5401051	A	C	18	5401052	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.926320978232275	0.736
18	5401051	A	G	18	5401052	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.926320978232275	0.736
18	5401051	A	T	18	5401052	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.94667974610216	0.784
18	5401052	T	A	18	5401053	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.926320978232275	0.74
18	5401052	T	C	18	5401053	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.926320978232275	0.744
18	5401052	T	G	18	5401053	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.926320978232275	0.744
18	5401053	A	C	18	5401054	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.907027148647081	0.748
18	5401053	A	G	18	5401054	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.907027148647081	0.748
18	5401053	A	T	18	5401054	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.907027148647081	0.746
18	5401054	A	C	18	5401055	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.26112976686895E-4	0.218
18	5401054	A	G	18	5401055	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.26112976686895E-4	0.218
18	5401054	A	T	18	5401055	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.26112976686895E-4	0.222
18	5406768	C	A	18	5406769	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.09185406553421E-5	0.002
18	5406768	C	G	18	5406769	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.80014916385417E-5	0.0
18	5406768	C	T	18	5406769	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.09185406553421E-5	0.0
18	5406769	T	A	18	5406770	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.88103948994225E-4	0.068
18	5406769	T	C	18	5406770	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.84816343111415E-4	0.044
18	5406769	T	G	18	5406770	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.08885651779301E-4	0.0
18	5406770	A	C	18	5406771	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.797344247734027	0.63
18	5406770	A	G	18	5406771	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.884150191581435	0.58
18	5406770	A	T	18	5406771	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.960416493073211	0.564
18	5406771	C	A	18	5406772	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999079976035289	0.948
18	5406771	C	G	18	5406772	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999956713871502	0.98
18	5406771	C	T	18	5406772	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999727169442617	0.98
18	5406772	T	A	18	5406773	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.988395294374934	0.658
18	5406772	T	C	18	5406773	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.981724327083339	0.682
18	5406772	T	G	18	5406773	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99112402749863	0.76
18	5406773	G	A	18	5406774	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.24410102553764E-4	0.02
18	5406773	G	C	18	5406774	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.51889793051191E-4	0.05
18	5406773	G	T	18	5406774	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.89373266236361E-4	0.102
18	5406774	A	C	18	5406775	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1479+2T>G;NM_001281533:exon16:c.1842+2T>G;NM_012307:exon17:c.2349+2T>G;NM_001281534:exon15:c.1806+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2349+2T>G;ENST00000544123:exon16:c.1842+2T>G;ENST00000540638:exon15:c.1806+2T>G;ENST00000427684:exon4:c.165+2T>G;ENST00000542146:exon4:c.165+2T>G;ENST00000400111:exon15:c.1806+2T>G;ENST00000342933:exon17:c.2349+2T>G)	.	.	0.999988247793601	0.93
18	5406774	A	G	18	5406775	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1479+2T>C;NM_001281533:exon16:c.1842+2T>C;NM_012307:exon17:c.2349+2T>C;NM_001281534:exon15:c.1806+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2349+2T>C;ENST00000544123:exon16:c.1842+2T>C;ENST00000540638:exon15:c.1806+2T>C;ENST00000427684:exon4:c.165+2T>C;ENST00000542146:exon4:c.165+2T>C;ENST00000400111:exon15:c.1806+2T>C;ENST00000342933:exon17:c.2349+2T>C)	.	.	0.996218475494576	0.688
18	5406774	A	T	18	5406775	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1479+2T>A;NM_001281533:exon16:c.1842+2T>A;NM_012307:exon17:c.2349+2T>A;NM_001281534:exon15:c.1806+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2349+2T>A;ENST00000544123:exon16:c.1842+2T>A;ENST00000540638:exon15:c.1806+2T>A;ENST00000427684:exon4:c.165+2T>A;ENST00000542146:exon4:c.165+2T>A;ENST00000400111:exon15:c.1806+2T>A;ENST00000342933:exon17:c.2349+2T>A)	.	.	0.999988247793601	0.93
18	5406775	C	A	18	5406776	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1479+1G>T;NM_001281533:exon16:c.1842+1G>T;NM_012307:exon17:c.2349+1G>T;NM_001281534:exon15:c.1806+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2349+1G>T;ENST00000544123:exon16:c.1842+1G>T;ENST00000540638:exon15:c.1806+1G>T;ENST00000427684:exon4:c.165+1G>T;ENST00000542146:exon4:c.165+1G>T;ENST00000400111:exon15:c.1806+1G>T;ENST00000342933:exon17:c.2349+1G>T)	.	.	0.999989072007339	0.934
18	5406775	C	G	18	5406776	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1479+1G>C;NM_001281533:exon16:c.1842+1G>C;NM_012307:exon17:c.2349+1G>C;NM_001281534:exon15:c.1806+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2349+1G>C;ENST00000544123:exon16:c.1842+1G>C;ENST00000540638:exon15:c.1806+1G>C;ENST00000427684:exon4:c.165+1G>C;ENST00000542146:exon4:c.165+1G>C;ENST00000400111:exon15:c.1806+1G>C;ENST00000342933:exon17:c.2349+1G>C)	.	.	0.999989072007339	0.934
18	5406775	C	T	18	5406776	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1479+1G>A;NM_001281533:exon16:c.1842+1G>A;NM_012307:exon17:c.2349+1G>A;NM_001281534:exon15:c.1806+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2349+1G>A;ENST00000544123:exon16:c.1842+1G>A;ENST00000540638:exon15:c.1806+1G>A;ENST00000427684:exon4:c.165+1G>A;ENST00000542146:exon4:c.165+1G>A;ENST00000400111:exon15:c.1806+1G>A;ENST00000342933:exon17:c.2349+1G>A)	.	.	0.999989072007339	0.934
18	5406776	C	A	18	5406777	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.G1806T:p.E602D;EPB41L3:NM_001281533:exon15:c.G1842T:p.E614D;EPB41L3:NM_001281535:exon16:c.G1479T:p.E493D;EPB41L3:NM_012307:exon16:c.G2349T:p.E783D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon3:c.G165T:p.E55D;ENSG00000082397:ENST00000342933:exon16:c.G2349T:p.E783D;ENSG00000082397:ENST00000341928:exon16:c.G2349T:p.E783D;ENSG00000082397:ENST00000544123:exon15:c.G1842T:p.E614D;ENSG00000082397:ENST00000540638:exon14:c.G1806T:p.E602D;ENSG00000082397:ENST00000542146:exon3:c.G165T:p.E55D;ENSG00000082397:ENST00000400111:exon14:c.G1806T:p.E602D;	0.999912422800094	0.956
18	5406776	C	G	18	5406777	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.G1806C:p.E602D;EPB41L3:NM_001281533:exon15:c.G1842C:p.E614D;EPB41L3:NM_001281535:exon16:c.G1479C:p.E493D;EPB41L3:NM_012307:exon16:c.G2349C:p.E783D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon3:c.G165C:p.E55D;ENSG00000082397:ENST00000342933:exon16:c.G2349C:p.E783D;ENSG00000082397:ENST00000341928:exon16:c.G2349C:p.E783D;ENSG00000082397:ENST00000544123:exon15:c.G1842C:p.E614D;ENSG00000082397:ENST00000540638:exon14:c.G1806C:p.E602D;ENSG00000082397:ENST00000542146:exon3:c.G165C:p.E55D;ENSG00000082397:ENST00000400111:exon14:c.G1806C:p.E602D;	0.99999334335269	0.99
18	5406776	C	T	18	5406777	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon14:c.G1806A:p.E602E;EPB41L3:NM_001281533:exon15:c.G1842A:p.E614E;EPB41L3:NM_001281535:exon16:c.G1479A:p.E493E;EPB41L3:NM_012307:exon16:c.G2349A:p.E783E;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000427684:exon3:c.G165A:p.E55E;ENSG00000082397:ENST00000342933:exon16:c.G2349A:p.E783E;ENSG00000082397:ENST00000341928:exon16:c.G2349A:p.E783E;ENSG00000082397:ENST00000544123:exon15:c.G1842A:p.E614E;ENSG00000082397:ENST00000540638:exon14:c.G1806A:p.E602E;ENSG00000082397:ENST00000542146:exon3:c.G165A:p.E55E;ENSG00000082397:ENST00000400111:exon14:c.G1806A:p.E602E;	0.999965070416926	0.994
18	5406777	T	A	18	5406778	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.A1805T:p.E602V;EPB41L3:NM_001281533:exon15:c.A1841T:p.E614V;EPB41L3:NM_001281535:exon16:c.A1478T:p.E493V;EPB41L3:NM_012307:exon16:c.A2348T:p.E783V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon3:c.A164T:p.E55V;ENSG00000082397:ENST00000342933:exon16:c.A2348T:p.E783V;ENSG00000082397:ENST00000341928:exon16:c.A2348T:p.E783V;ENSG00000082397:ENST00000544123:exon15:c.A1841T:p.E614V;ENSG00000082397:ENST00000540638:exon14:c.A1805T:p.E602V;ENSG00000082397:ENST00000542146:exon3:c.A164T:p.E55V;ENSG00000082397:ENST00000400111:exon14:c.A1805T:p.E602V;	0.999917036797211	1.0
18	5406777	T	C	18	5406778	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.A1805G:p.E602G;EPB41L3:NM_001281533:exon15:c.A1841G:p.E614G;EPB41L3:NM_001281535:exon16:c.A1478G:p.E493G;EPB41L3:NM_012307:exon16:c.A2348G:p.E783G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon3:c.A164G:p.E55G;ENSG00000082397:ENST00000342933:exon16:c.A2348G:p.E783G;ENSG00000082397:ENST00000341928:exon16:c.A2348G:p.E783G;ENSG00000082397:ENST00000544123:exon15:c.A1841G:p.E614G;ENSG00000082397:ENST00000540638:exon14:c.A1805G:p.E602G;ENSG00000082397:ENST00000542146:exon3:c.A164G:p.E55G;ENSG00000082397:ENST00000400111:exon14:c.A1805G:p.E602G;	0.999926724572538	0.99
18	5406777	T	G	18	5406778	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.A1805C:p.E602A;EPB41L3:NM_001281533:exon15:c.A1841C:p.E614A;EPB41L3:NM_001281535:exon16:c.A1478C:p.E493A;EPB41L3:NM_012307:exon16:c.A2348C:p.E783A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon3:c.A164C:p.E55A;ENSG00000082397:ENST00000342933:exon16:c.A2348C:p.E783A;ENSG00000082397:ENST00000341928:exon16:c.A2348C:p.E783A;ENSG00000082397:ENST00000544123:exon15:c.A1841C:p.E614A;ENSG00000082397:ENST00000540638:exon14:c.A1805C:p.E602A;ENSG00000082397:ENST00000542146:exon3:c.A164C:p.E55A;ENSG00000082397:ENST00000400111:exon14:c.A1805C:p.E602A;	0.999010200465897	0.968
18	5406778	C	A	18	5406779	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon14:c.G1804T:p.E602X;EPB41L3:NM_001281533:exon15:c.G1840T:p.E614X;EPB41L3:NM_001281535:exon16:c.G1477T:p.E493X;EPB41L3:NM_012307:exon16:c.G2347T:p.E783X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000427684:exon3:c.G163T:p.E55X;ENSG00000082397:ENST00000342933:exon16:c.G2347T:p.E783X;ENSG00000082397:ENST00000341928:exon16:c.G2347T:p.E783X;ENSG00000082397:ENST00000544123:exon15:c.G1840T:p.E614X;ENSG00000082397:ENST00000540638:exon14:c.G1804T:p.E602X;ENSG00000082397:ENST00000542146:exon3:c.G163T:p.E55X;ENSG00000082397:ENST00000400111:exon14:c.G1804T:p.E602X;	0.98154578891722	0.882
18	5406778	C	G	18	5406779	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.G1804C:p.E602Q;EPB41L3:NM_001281533:exon15:c.G1840C:p.E614Q;EPB41L3:NM_001281535:exon16:c.G1477C:p.E493Q;EPB41L3:NM_012307:exon16:c.G2347C:p.E783Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon3:c.G163C:p.E55Q;ENSG00000082397:ENST00000342933:exon16:c.G2347C:p.E783Q;ENSG00000082397:ENST00000341928:exon16:c.G2347C:p.E783Q;ENSG00000082397:ENST00000544123:exon15:c.G1840C:p.E614Q;ENSG00000082397:ENST00000540638:exon14:c.G1804C:p.E602Q;ENSG00000082397:ENST00000542146:exon3:c.G163C:p.E55Q;ENSG00000082397:ENST00000400111:exon14:c.G1804C:p.E602Q;	0.944314817415382	0.738
18	5406778	C	T	18	5406779	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.G1804A:p.E602K;EPB41L3:NM_001281533:exon15:c.G1840A:p.E614K;EPB41L3:NM_001281535:exon16:c.G1477A:p.E493K;EPB41L3:NM_012307:exon16:c.G2347A:p.E783K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000427684:exon3:c.G163A:p.E55K;ENSG00000082397:ENST00000342933:exon16:c.G2347A:p.E783K;ENSG00000082397:ENST00000341928:exon16:c.G2347A:p.E783K;ENSG00000082397:ENST00000544123:exon15:c.G1840A:p.E614K;ENSG00000082397:ENST00000540638:exon14:c.G1804A:p.E602K;ENSG00000082397:ENST00000542146:exon3:c.G163A:p.E55K;ENSG00000082397:ENST00000400111:exon14:c.G1804A:p.E602K;	0.963934380011275	0.832
18	5406966	T	A	18	5406967	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.A1616T:p.E539V;EPB41L3:NM_001281533:exon15:c.A1652T:p.E551V;EPB41L3:NM_001281535:exon16:c.A1289T:p.E430V;EPB41L3:NM_012307:exon16:c.A2159T:p.E720V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon16:c.A2159T:p.E720V;ENSG00000082397:ENST00000341928:exon16:c.A2159T:p.E720V;ENSG00000082397:ENST00000544123:exon15:c.A1652T:p.E551V;ENSG00000082397:ENST00000540638:exon14:c.A1616T:p.E539V;ENSG00000082397:ENST00000400111:exon14:c.A1616T:p.E539V;	0.840211027750283	0.808
18	5406966	T	C	18	5406967	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.A1616G:p.E539G;EPB41L3:NM_001281533:exon15:c.A1652G:p.E551G;EPB41L3:NM_001281535:exon16:c.A1289G:p.E430G;EPB41L3:NM_012307:exon16:c.A2159G:p.E720G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon16:c.A2159G:p.E720G;ENSG00000082397:ENST00000341928:exon16:c.A2159G:p.E720G;ENSG00000082397:ENST00000544123:exon15:c.A1652G:p.E551G;ENSG00000082397:ENST00000540638:exon14:c.A1616G:p.E539G;ENSG00000082397:ENST00000400111:exon14:c.A1616G:p.E539G;	0.698522127836196	0.476
18	5406966	T	G	18	5406967	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.A1616C:p.E539A;EPB41L3:NM_001281533:exon15:c.A1652C:p.E551A;EPB41L3:NM_001281535:exon16:c.A1289C:p.E430A;EPB41L3:NM_012307:exon16:c.A2159C:p.E720A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon16:c.A2159C:p.E720A;ENSG00000082397:ENST00000341928:exon16:c.A2159C:p.E720A;ENSG00000082397:ENST00000544123:exon15:c.A1652C:p.E551A;ENSG00000082397:ENST00000540638:exon14:c.A1616C:p.E539A;ENSG00000082397:ENST00000400111:exon14:c.A1616C:p.E539A;	0.37883972092266	0.594
18	5406967	C	A	18	5406968	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon14:c.G1615T:p.E539X;EPB41L3:NM_001281533:exon15:c.G1651T:p.E551X;EPB41L3:NM_001281535:exon16:c.G1288T:p.E430X;EPB41L3:NM_012307:exon16:c.G2158T:p.E720X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon16:c.G2158T:p.E720X;ENSG00000082397:ENST00000341928:exon16:c.G2158T:p.E720X;ENSG00000082397:ENST00000544123:exon15:c.G1651T:p.E551X;ENSG00000082397:ENST00000540638:exon14:c.G1615T:p.E539X;ENSG00000082397:ENST00000400111:exon14:c.G1615T:p.E539X;	0.999922991616562	0.968
18	5406967	C	G	18	5406968	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.G1615C:p.E539Q;EPB41L3:NM_001281533:exon15:c.G1651C:p.E551Q;EPB41L3:NM_001281535:exon16:c.G1288C:p.E430Q;EPB41L3:NM_012307:exon16:c.G2158C:p.E720Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon16:c.G2158C:p.E720Q;ENSG00000082397:ENST00000341928:exon16:c.G2158C:p.E720Q;ENSG00000082397:ENST00000544123:exon15:c.G1651C:p.E551Q;ENSG00000082397:ENST00000540638:exon14:c.G1615C:p.E539Q;ENSG00000082397:ENST00000400111:exon14:c.G1615C:p.E539Q;	0.999879604026156	0.97
18	5406967	C	T	18	5406968	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon14:c.G1615A:p.E539K;EPB41L3:NM_001281533:exon15:c.G1651A:p.E551K;EPB41L3:NM_001281535:exon16:c.G1288A:p.E430K;EPB41L3:NM_012307:exon16:c.G2158A:p.E720K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon16:c.G2158A:p.E720K;ENSG00000082397:ENST00000341928:exon16:c.G2158A:p.E720K;ENSG00000082397:ENST00000544123:exon15:c.G1651A:p.E551K;ENSG00000082397:ENST00000540638:exon14:c.G1615A:p.E539K;ENSG00000082397:ENST00000400111:exon14:c.G1615A:p.E539K;	0.999849175740619	0.94
18	5406968	C	A	18	5406969	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1288-1G>T;NM_001281533:exon16:c.1651-1G>T;NM_012307:exon17:c.2158-1G>T;NM_001281534:exon15:c.1615-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2158-1G>T;ENST00000544123:exon16:c.1651-1G>T;ENST00000540638:exon15:c.1615-1G>T;ENST00000400111:exon15:c.1615-1G>T;ENST00000342933:exon17:c.2158-1G>T)	.	.	0.999983677848485	0.944
18	5406968	C	G	18	5406969	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1288-1G>C;NM_001281533:exon16:c.1651-1G>C;NM_012307:exon17:c.2158-1G>C;NM_001281534:exon15:c.1615-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2158-1G>C;ENST00000544123:exon16:c.1651-1G>C;ENST00000540638:exon15:c.1615-1G>C;ENST00000400111:exon15:c.1615-1G>C;ENST00000342933:exon17:c.2158-1G>C)	.	.	0.999983677848485	0.936
18	5406968	C	T	18	5406969	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1288-1G>A;NM_001281533:exon16:c.1651-1G>A;NM_012307:exon17:c.2158-1G>A;NM_001281534:exon15:c.1615-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2158-1G>A;ENST00000544123:exon16:c.1651-1G>A;ENST00000540638:exon15:c.1615-1G>A;ENST00000400111:exon15:c.1615-1G>A;ENST00000342933:exon17:c.2158-1G>A)	.	.	0.999983677848485	0.944
18	5406969	T	A	18	5406970	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1288-2A>T;NM_001281533:exon16:c.1651-2A>T;NM_012307:exon17:c.2158-2A>T;NM_001281534:exon15:c.1615-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2158-2A>T;ENST00000544123:exon16:c.1651-2A>T;ENST00000540638:exon15:c.1615-2A>T;ENST00000400111:exon15:c.1615-2A>T;ENST00000342933:exon17:c.2158-2A>T)	.	.	0.999981762773958	0.92
18	5406969	T	C	18	5406970	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1288-2A>G;NM_001281533:exon16:c.1651-2A>G;NM_012307:exon17:c.2158-2A>G;NM_001281534:exon15:c.1615-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2158-2A>G;ENST00000544123:exon16:c.1651-2A>G;ENST00000540638:exon15:c.1615-2A>G;ENST00000400111:exon15:c.1615-2A>G;ENST00000342933:exon17:c.2158-2A>G)	.	.	0.999952939287516	0.918
18	5406969	T	G	18	5406970	y	y	splicing	EPB41L3(NM_001281535:exon17:c.1288-2A>C;NM_001281533:exon16:c.1651-2A>C;NM_012307:exon17:c.2158-2A>C;NM_001281534:exon15:c.1615-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon17:c.2158-2A>C;ENST00000544123:exon16:c.1651-2A>C;ENST00000540638:exon15:c.1615-2A>C;ENST00000400111:exon15:c.1615-2A>C;ENST00000342933:exon17:c.2158-2A>C)	.	.	0.999952939287516	0.92
18	5406970	A	C	18	5406971	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998640675510055	0.796
18	5406970	A	G	18	5406971	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.30420984001919E-4	0.068
18	5406970	A	T	18	5406971	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.676616695004603	0.45
18	5406971	T	A	18	5406972	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.73467667041E-5	0.002
18	5406971	T	C	18	5406972	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.32114829741575E-4	0.048
18	5406971	T	G	18	5406972	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.60931486727462E-5	0.146
18	5406972	A	C	18	5406973	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999912276900154	0.962
18	5406972	A	G	18	5406973	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.24061160809603E-4	0.18
18	5406972	A	T	18	5406973	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.41733578338407	0.542
18	5406973	T	A	18	5406974	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.28074192315385E-4	0.036
18	5406973	T	C	18	5406974	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998274685446159	0.976
18	5406973	T	G	18	5406974	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.28074192315385E-4	0.038
18	5406974	T	A	18	5406975	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.75333501384853E-5	0.002
18	5406974	T	C	18	5406975	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.1174961959042E-5	0.0
18	5406974	T	G	18	5406975	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.80217632157524E-5	0.006
18	5406975	C	A	18	5406976	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.26531790668231E-4	0.032
18	5406975	C	G	18	5406976	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.52376711654205E-4	0.032
18	5406975	C	T	18	5406976	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.66579179561447E-4	0.086
18	5406976	A	C	18	5406977	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.338088233289552	0.594
18	5406976	A	G	18	5406977	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.59363800138897E-4	0.032
18	5406976	A	T	18	5406977	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999990133126735	0.924
18	5406977	G	A	18	5406978	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00103203502702123	0.048
18	5406977	G	C	18	5406978	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.513483504958349	0.378
18	5406977	G	T	18	5406978	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.418446438830722	0.392
18	5406978	A	C	18	5406979	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.368219013429163	0.672
18	5406978	A	G	18	5406979	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0280637778067972	0.262
18	5406978	A	T	18	5406979	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.960162474637955	0.77
18	5406979	A	C	18	5406980	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0261044607404645	0.406
18	5406979	A	G	18	5406980	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0059581980081425	0.068
18	5406979	A	T	18	5406980	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.177140135430166	0.526
18	5407692	T	A	18	5407693	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.88102994485347E-5	0.0
18	5407692	T	C	18	5407693	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.79416880097828E-4	0.004
18	5407692	T	G	18	5407693	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.79416880097828E-4	0.0
18	5407693	T	A	18	5407694	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.62674462452333E-5	0.0
18	5407693	T	C	18	5407694	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.59778779237488E-5	0.002
18	5407693	T	G	18	5407694	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.57022043629261E-5	0.0
18	5407694	T	A	18	5407695	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.82739912998542E-4	0.048
18	5407694	T	C	18	5407695	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.9388610103691E-5	0.036
18	5407694	T	G	18	5407695	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.42986223623606E-4	0.068
18	5407695	T	A	18	5407696	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0835668841978614	0.264
18	5407695	T	C	18	5407696	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.11165408077065E-4	0.046
18	5407695	T	G	18	5407696	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0138834122281478	0.126
18	5407696	C	A	18	5407697	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00402842873555954	0.12
18	5407696	C	G	18	5407697	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00997176766954777	0.238
18	5407696	C	T	18	5407697	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.79342435200067E-4	0.05
18	5407697	T	A	18	5407698	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999920611009425	0.888
18	5407697	T	C	18	5407698	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999447551887475	0.966
18	5407697	T	G	18	5407698	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999929598292471	0.912
18	5407698	A	C	18	5407699	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1650+2T>G;NM_012307:exon16:c.2157+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2157+2T>G;ENST00000544123:exon15:c.1650+2T>G;ENST00000342933:exon16:c.2157+2T>G)	.	.	0.999988247793601	0.95
18	5407698	A	G	18	5407699	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1650+2T>C;NM_012307:exon16:c.2157+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2157+2T>C;ENST00000544123:exon15:c.1650+2T>C;ENST00000342933:exon16:c.2157+2T>C)	.	.	0.99593384708436	0.718
18	5407698	A	T	18	5407699	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1650+2T>A;NM_012307:exon16:c.2157+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2157+2T>A;ENST00000544123:exon15:c.1650+2T>A;ENST00000342933:exon16:c.2157+2T>A)	.	.	0.999988247793601	0.95
18	5407699	C	A	18	5407700	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1650+1G>T;NM_012307:exon16:c.2157+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2157+1G>T;ENST00000544123:exon15:c.1650+1G>T;ENST00000342933:exon16:c.2157+1G>T)	.	.	0.999990361384395	0.948
18	5407699	C	G	18	5407700	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1650+1G>C;NM_012307:exon16:c.2157+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2157+1G>C;ENST00000544123:exon15:c.1650+1G>C;ENST00000342933:exon16:c.2157+1G>C)	.	.	0.999990361384395	0.948
18	5407699	C	T	18	5407700	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1650+1G>A;NM_012307:exon16:c.2157+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2157+1G>A;ENST00000544123:exon15:c.1650+1G>A;ENST00000342933:exon16:c.2157+1G>A)	.	.	0.999990361384395	0.948
18	5407700	C	A	18	5407701	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.G1650T:p.Q550H;EPB41L3:NM_012307:exon15:c.G2157T:p.Q719H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.G2157T:p.Q719H;ENSG00000082397:ENST00000341928:exon15:c.G2157T:p.Q719H;ENSG00000082397:ENST00000544123:exon14:c.G1650T:p.Q550H;	0.999994342005323	1.0
18	5407700	C	G	18	5407701	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.G1650C:p.Q550H;EPB41L3:NM_012307:exon15:c.G2157C:p.Q719H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.G2157C:p.Q719H;ENSG00000082397:ENST00000341928:exon15:c.G2157C:p.Q719H;ENSG00000082397:ENST00000544123:exon14:c.G1650C:p.Q550H;	0.999997360428448	1.0
18	5407700	C	T	18	5407701	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281533:exon14:c.G1650A:p.Q550Q;EPB41L3:NM_012307:exon15:c.G2157A:p.Q719Q;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.G2157A:p.Q719Q;ENSG00000082397:ENST00000341928:exon15:c.G2157A:p.Q719Q;ENSG00000082397:ENST00000544123:exon14:c.G1650A:p.Q550Q;	0.999970091247489	1.0
18	5407701	T	A	18	5407702	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.A1649T:p.Q550L;EPB41L3:NM_012307:exon15:c.A2156T:p.Q719L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.A2156T:p.Q719L;ENSG00000082397:ENST00000341928:exon15:c.A2156T:p.Q719L;ENSG00000082397:ENST00000544123:exon14:c.A1649T:p.Q550L;	0.999979787756726	1.0
18	5407701	T	C	18	5407702	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.A1649G:p.Q550R;EPB41L3:NM_012307:exon15:c.A2156G:p.Q719R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.A2156G:p.Q719R;ENSG00000082397:ENST00000341928:exon15:c.A2156G:p.Q719R;ENSG00000082397:ENST00000544123:exon14:c.A1649G:p.Q550R;	0.999978833428969	0.998
18	5407701	T	G	18	5407702	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.A1649C:p.Q550P;EPB41L3:NM_012307:exon15:c.A2156C:p.Q719P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.A2156C:p.Q719P;ENSG00000082397:ENST00000341928:exon15:c.A2156C:p.Q719P;ENSG00000082397:ENST00000544123:exon14:c.A1649C:p.Q550P;	0.999939183909369	0.998
18	5407702	G	A	18	5407703	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281533:exon14:c.C1648T:p.Q550X;EPB41L3:NM_012307:exon15:c.C2155T:p.Q719X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon15:c.C2155T:p.Q719X;ENSG00000082397:ENST00000341928:exon15:c.C2155T:p.Q719X;ENSG00000082397:ENST00000544123:exon14:c.C1648T:p.Q550X;	0.999919922083202	0.994
18	5407702	G	C	18	5407703	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.C1648G:p.Q550E;EPB41L3:NM_012307:exon15:c.C2155G:p.Q719E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.C2155G:p.Q719E;ENSG00000082397:ENST00000341928:exon15:c.C2155G:p.Q719E;ENSG00000082397:ENST00000544123:exon14:c.C1648G:p.Q550E;	0.854380489865076	0.482
18	5407702	G	T	18	5407703	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.C1648A:p.Q550K;EPB41L3:NM_012307:exon15:c.C2155A:p.Q719K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.C2155A:p.Q719K;ENSG00000082397:ENST00000341928:exon15:c.C2155A:p.Q719K;ENSG00000082397:ENST00000544123:exon14:c.C1648A:p.Q550K;	0.964170756833498	0.672
18	5407734	G	A	18	5407735	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.C1616T:p.S539L;EPB41L3:NM_012307:exon15:c.C2123T:p.S708L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.C2123T:p.S708L;ENSG00000082397:ENST00000341928:exon15:c.C2123T:p.S708L;ENSG00000082397:ENST00000544123:exon14:c.C1616T:p.S539L;	0.983735374738648	0.818
18	5407734	G	C	18	5407735	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.C1616G:p.S539W;EPB41L3:NM_012307:exon15:c.C2123G:p.S708W;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.C2123G:p.S708W;ENSG00000082397:ENST00000341928:exon15:c.C2123G:p.S708W;ENSG00000082397:ENST00000544123:exon14:c.C1616G:p.S539W;	0.979554378757711	0.84
18	5407734	G	T	18	5407735	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281533:exon14:c.C1616A:p.S539X;EPB41L3:NM_012307:exon15:c.C2123A:p.S708X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon15:c.C2123A:p.S708X;ENSG00000082397:ENST00000341928:exon15:c.C2123A:p.S708X;ENSG00000082397:ENST00000544123:exon14:c.C1616A:p.S539X;	0.997935241260688	0.768
18	5407735	A	C	18	5407736	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.T1615G:p.S539A;EPB41L3:NM_012307:exon15:c.T2122G:p.S708A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.T2122G:p.S708A;ENSG00000082397:ENST00000341928:exon15:c.T2122G:p.S708A;ENSG00000082397:ENST00000544123:exon14:c.T1615G:p.S539A;	0.0411465235096333	0.276
18	5407735	A	G	18	5407736	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.T1615C:p.S539P;EPB41L3:NM_012307:exon15:c.T2122C:p.S708P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.T2122C:p.S708P;ENSG00000082397:ENST00000341928:exon15:c.T2122C:p.S708P;ENSG00000082397:ENST00000544123:exon14:c.T1615C:p.S539P;	0.954418146792467	0.65
18	5407735	A	T	18	5407736	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281533:exon14:c.T1615A:p.S539T;EPB41L3:NM_012307:exon15:c.T2122A:p.S708T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon15:c.T2122A:p.S708T;ENSG00000082397:ENST00000341928:exon15:c.T2122A:p.S708T;ENSG00000082397:ENST00000544123:exon14:c.T1615A:p.S539T;	0.241242320162683	0.582
18	5407736	C	A	18	5407737	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1615-1G>T;NM_012307:exon16:c.2122-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2122-1G>T;ENST00000544123:exon15:c.1615-1G>T;ENST00000342933:exon16:c.2122-1G>T)	.	.	0.999993444959628	0.928
18	5407736	C	G	18	5407737	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1615-1G>C;NM_012307:exon16:c.2122-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2122-1G>C;ENST00000544123:exon15:c.1615-1G>C;ENST00000342933:exon16:c.2122-1G>C)	.	.	0.999993444959628	0.928
18	5407736	C	T	18	5407737	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1615-1G>A;NM_012307:exon16:c.2122-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2122-1G>A;ENST00000544123:exon15:c.1615-1G>A;ENST00000342933:exon16:c.2122-1G>A)	.	.	0.999993444959628	0.928
18	5407737	T	A	18	5407738	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1615-2A>T;NM_012307:exon16:c.2122-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2122-2A>T;ENST00000544123:exon15:c.1615-2A>T;ENST00000342933:exon16:c.2122-2A>T)	.	.	0.999992007541056	0.932
18	5407737	T	C	18	5407738	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1615-2A>G;NM_012307:exon16:c.2122-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2122-2A>G;ENST00000544123:exon15:c.1615-2A>G;ENST00000342933:exon16:c.2122-2A>G)	.	.	0.999992007541056	0.932
18	5407737	T	G	18	5407738	y	y	splicing	EPB41L3(NM_001281533:exon15:c.1615-2A>C;NM_012307:exon16:c.2122-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon16:c.2122-2A>C;ENST00000544123:exon15:c.1615-2A>C;ENST00000342933:exon16:c.2122-2A>C)	.	.	0.999992007541056	0.932
18	5407738	G	A	18	5407739	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995118130385415	0.564
18	5407738	G	C	18	5407739	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999972580577798	0.946
18	5407738	G	T	18	5407739	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99996167130528	0.976
18	5407739	C	A	18	5407740	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00132731362951916	0.086
18	5407739	C	G	18	5407740	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.09645552667257E-5	0.016
18	5407739	C	T	18	5407740	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.42524057087289E-5	0.038
18	5407740	C	A	18	5407741	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00254755648686904	0.098
18	5407740	C	G	18	5407741	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00174421709003029	0.068
18	5407740	C	T	18	5407741	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998052421761109	0.912
18	5407741	A	C	18	5407742	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.932173035555861	0.77
18	5407741	A	G	18	5407742	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00962990569253295	0.13
18	5407741	A	T	18	5407742	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999928467950994	0.964
18	5407742	G	A	18	5407743	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0152024755286017	0.198
18	5407742	G	C	18	5407743	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.921394171993748	0.632
18	5407742	G	T	18	5407743	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.920546191131556	0.63
18	5407743	C	A	18	5407744	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0096574411738342	0.082
18	5407743	C	G	18	5407744	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00414964596899014	0.072
18	5407743	C	T	18	5407744	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.190555808867248	0.24
18	5407744	A	C	18	5407745	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999973384660158	0.97
18	5407744	A	G	18	5407745	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.744537093714841	0.478
18	5407744	A	T	18	5407745	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99998697405783	0.97
18	5407745	T	A	18	5407746	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0236198645588901	0.51
18	5407745	T	C	18	5407746	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0497477096463699	0.356
18	5407745	T	G	18	5407746	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0236198645588901	0.536
18	5407746	C	A	18	5407747	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.97679691382479	0.726
18	5407746	C	G	18	5407747	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.967635078596931	0.73
18	5407746	C	T	18	5407747	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.990453647972244	0.662
18	5407747	A	C	18	5407748	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.651484669469464	0.646
18	5407747	A	G	18	5407748	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00280394880827917	0.164
18	5407747	A	T	18	5407748	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999981364603781	0.97
18	5410557	A	C	18	5410558	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.24709778627587E-4	0.01
18	5410557	A	G	18	5410558	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.02577115680485E-4	0.0
18	5410557	A	T	18	5410558	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.24709778627587E-4	0.034
18	5410558	T	A	18	5410559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.44299358468573E-4	0.006
18	5410558	T	C	18	5410559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.30636686977267E-4	0.0
18	5410558	T	G	18	5410559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.44521935495228E-5	0.0
18	5410559	A	C	18	5410560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997404969977634	0.824
18	5410559	A	G	18	5410560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.992329531316996	0.88
18	5410559	A	T	18	5410560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.994937238495003	0.776
18	5410560	C	A	18	5410561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999968833967818	0.986
18	5410560	C	G	18	5410561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999968833967818	0.996
18	5410560	C	T	18	5410561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999961198987024	1.0
18	5410561	C	A	18	5410562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.09842269499486E-4	0.058
18	5410561	C	G	18	5410562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.80112969736019E-4	0.152
18	5410561	C	T	18	5410562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.14501307798743E-4	0.048
18	5410562	A	C	18	5410563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.33951873563409E-4	0.194
18	5410562	A	G	18	5410563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00823278868290482	0.178
18	5410562	A	T	18	5410563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00196760822677282	0.088
18	5410563	A	C	18	5410564	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1287+2T>G;NM_001281533:exon14:c.1614+2T>G;NM_012307:exon15:c.2121+2T>G;NM_001281534:exon14:c.1614+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2121+2T>G;ENST00000544123:exon14:c.1614+2T>G;ENST00000540638:exon14:c.1614+2T>G;ENST00000400111:exon14:c.1614+2T>G;ENST00000342933:exon15:c.2121+2T>G)	.	.	0.999988247793601	0.946
18	5410563	A	G	18	5410564	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1287+2T>C;NM_001281533:exon14:c.1614+2T>C;NM_012307:exon15:c.2121+2T>C;NM_001281534:exon14:c.1614+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2121+2T>C;ENST00000544123:exon14:c.1614+2T>C;ENST00000540638:exon14:c.1614+2T>C;ENST00000400111:exon14:c.1614+2T>C;ENST00000342933:exon15:c.2121+2T>C)	.	.	0.991245725732999	0.648
18	5410563	A	T	18	5410564	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1287+2T>A;NM_001281533:exon14:c.1614+2T>A;NM_012307:exon15:c.2121+2T>A;NM_001281534:exon14:c.1614+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2121+2T>A;ENST00000544123:exon14:c.1614+2T>A;ENST00000540638:exon14:c.1614+2T>A;ENST00000400111:exon14:c.1614+2T>A;ENST00000342933:exon15:c.2121+2T>A)	.	.	0.999988247793601	0.946
18	5410564	C	A	18	5410565	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1287+1G>T;NM_001281533:exon14:c.1614+1G>T;NM_012307:exon15:c.2121+1G>T;NM_001281534:exon14:c.1614+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2121+1G>T;ENST00000544123:exon14:c.1614+1G>T;ENST00000540638:exon14:c.1614+1G>T;ENST00000400111:exon14:c.1614+1G>T;ENST00000342933:exon15:c.2121+1G>T)	.	.	0.999986675681007	0.944
18	5410564	C	G	18	5410565	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1287+1G>C;NM_001281533:exon14:c.1614+1G>C;NM_012307:exon15:c.2121+1G>C;NM_001281534:exon14:c.1614+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2121+1G>C;ENST00000544123:exon14:c.1614+1G>C;ENST00000540638:exon14:c.1614+1G>C;ENST00000400111:exon14:c.1614+1G>C;ENST00000342933:exon15:c.2121+1G>C)	.	.	0.999986675681007	0.944
18	5410564	C	T	18	5410565	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1287+1G>A;NM_001281533:exon14:c.1614+1G>A;NM_012307:exon15:c.2121+1G>A;NM_001281534:exon14:c.1614+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2121+1G>A;ENST00000544123:exon14:c.1614+1G>A;ENST00000540638:exon14:c.1614+1G>A;ENST00000400111:exon14:c.1614+1G>A;ENST00000342933:exon15:c.2121+1G>A)	.	.	0.999986675681007	0.944
18	5410565	C	A	18	5410566	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.G1614T:p.E538D;EPB41L3:NM_001281533:exon13:c.G1614T:p.E538D;EPB41L3:NM_001281535:exon15:c.G1287T:p.E429D;EPB41L3:NM_012307:exon14:c.G2121T:p.E707D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.G2121T:p.E707D;ENSG00000082397:ENST00000341928:exon14:c.G2121T:p.E707D;ENSG00000082397:ENST00000544123:exon13:c.G1614T:p.E538D;ENSG00000082397:ENST00000540638:exon13:c.G1614T:p.E538D;ENSG00000082397:ENST00000400111:exon13:c.G1614T:p.E538D;	0.999989622619037	1.0
18	5410565	C	G	18	5410566	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.G1614C:p.E538D;EPB41L3:NM_001281533:exon13:c.G1614C:p.E538D;EPB41L3:NM_001281535:exon15:c.G1287C:p.E429D;EPB41L3:NM_012307:exon14:c.G2121C:p.E707D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.G2121C:p.E707D;ENSG00000082397:ENST00000341928:exon14:c.G2121C:p.E707D;ENSG00000082397:ENST00000544123:exon13:c.G1614C:p.E538D;ENSG00000082397:ENST00000540638:exon13:c.G1614C:p.E538D;ENSG00000082397:ENST00000400111:exon13:c.G1614C:p.E538D;	0.999997852716802	1.0
18	5410565	C	T	18	5410566	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon13:c.G1614A:p.E538E;EPB41L3:NM_001281533:exon13:c.G1614A:p.E538E;EPB41L3:NM_001281535:exon15:c.G1287A:p.E429E;EPB41L3:NM_012307:exon14:c.G2121A:p.E707E;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.G2121A:p.E707E;ENSG00000082397:ENST00000341928:exon14:c.G2121A:p.E707E;ENSG00000082397:ENST00000544123:exon13:c.G1614A:p.E538E;ENSG00000082397:ENST00000540638:exon13:c.G1614A:p.E538E;ENSG00000082397:ENST00000400111:exon13:c.G1614A:p.E538E;	0.999985641167462	1.0
18	5410566	T	A	18	5410567	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.A1613T:p.E538V;EPB41L3:NM_001281533:exon13:c.A1613T:p.E538V;EPB41L3:NM_001281535:exon15:c.A1286T:p.E429V;EPB41L3:NM_012307:exon14:c.A2120T:p.E707V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.A2120T:p.E707V;ENSG00000082397:ENST00000341928:exon14:c.A2120T:p.E707V;ENSG00000082397:ENST00000544123:exon13:c.A1613T:p.E538V;ENSG00000082397:ENST00000540638:exon13:c.A1613T:p.E538V;ENSG00000082397:ENST00000400111:exon13:c.A1613T:p.E538V;	0.999978133921488	1.0
18	5410566	T	C	18	5410567	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.A1613G:p.E538G;EPB41L3:NM_001281533:exon13:c.A1613G:p.E538G;EPB41L3:NM_001281535:exon15:c.A1286G:p.E429G;EPB41L3:NM_012307:exon14:c.A2120G:p.E707G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.A2120G:p.E707G;ENSG00000082397:ENST00000341928:exon14:c.A2120G:p.E707G;ENSG00000082397:ENST00000544123:exon13:c.A1613G:p.E538G;ENSG00000082397:ENST00000540638:exon13:c.A1613G:p.E538G;ENSG00000082397:ENST00000400111:exon13:c.A1613G:p.E538G;	0.999980794172157	0.998
18	5410566	T	G	18	5410567	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.A1613C:p.E538A;EPB41L3:NM_001281533:exon13:c.A1613C:p.E538A;EPB41L3:NM_001281535:exon15:c.A1286C:p.E429A;EPB41L3:NM_012307:exon14:c.A2120C:p.E707A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.A2120C:p.E707A;ENSG00000082397:ENST00000341928:exon14:c.A2120C:p.E707A;ENSG00000082397:ENST00000544123:exon13:c.A1613C:p.E538A;ENSG00000082397:ENST00000540638:exon13:c.A1613C:p.E538A;ENSG00000082397:ENST00000400111:exon13:c.A1613C:p.E538A;	0.999956430619251	0.996
18	5410567	C	A	18	5410568	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon13:c.G1612T:p.E538X;EPB41L3:NM_001281533:exon13:c.G1612T:p.E538X;EPB41L3:NM_001281535:exon15:c.G1285T:p.E429X;EPB41L3:NM_012307:exon14:c.G2119T:p.E707X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon14:c.G2119T:p.E707X;ENSG00000082397:ENST00000341928:exon14:c.G2119T:p.E707X;ENSG00000082397:ENST00000544123:exon13:c.G1612T:p.E538X;ENSG00000082397:ENST00000540638:exon13:c.G1612T:p.E538X;ENSG00000082397:ENST00000400111:exon13:c.G1612T:p.E538X;	0.978781203426977	0.818
18	5410567	C	G	18	5410568	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.G1612C:p.E538Q;EPB41L3:NM_001281533:exon13:c.G1612C:p.E538Q;EPB41L3:NM_001281535:exon15:c.G1285C:p.E429Q;EPB41L3:NM_012307:exon14:c.G2119C:p.E707Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.G2119C:p.E707Q;ENSG00000082397:ENST00000341928:exon14:c.G2119C:p.E707Q;ENSG00000082397:ENST00000544123:exon13:c.G1612C:p.E538Q;ENSG00000082397:ENST00000540638:exon13:c.G1612C:p.E538Q;ENSG00000082397:ENST00000400111:exon13:c.G1612C:p.E538Q;	0.93602014885347	0.734
18	5410567	C	T	18	5410568	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.G1612A:p.E538K;EPB41L3:NM_001281533:exon13:c.G1612A:p.E538K;EPB41L3:NM_001281535:exon15:c.G1285A:p.E429K;EPB41L3:NM_012307:exon14:c.G2119A:p.E707K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.G2119A:p.E707K;ENSG00000082397:ENST00000341928:exon14:c.G2119A:p.E707K;ENSG00000082397:ENST00000544123:exon13:c.G1612A:p.E538K;ENSG00000082397:ENST00000540638:exon13:c.G1612A:p.E538K;ENSG00000082397:ENST00000400111:exon13:c.G1612A:p.E538K;	0.941216738988101	0.77
18	5410617	G	A	18	5410618	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.C1562T:p.T521I;EPB41L3:NM_001281533:exon13:c.C1562T:p.T521I;EPB41L3:NM_001281535:exon15:c.C1235T:p.T412I;EPB41L3:NM_012307:exon14:c.C2069T:p.T690I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.C2069T:p.T690I;ENSG00000082397:ENST00000341928:exon14:c.C2069T:p.T690I;ENSG00000082397:ENST00000544123:exon13:c.C1562T:p.T521I;ENSG00000082397:ENST00000540638:exon13:c.C1562T:p.T521I;ENSG00000082397:ENST00000400111:exon13:c.C1562T:p.T521I;	0.974589094781414	0.806
18	5410617	G	C	18	5410618	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.C1562G:p.T521S;EPB41L3:NM_001281533:exon13:c.C1562G:p.T521S;EPB41L3:NM_001281535:exon15:c.C1235G:p.T412S;EPB41L3:NM_012307:exon14:c.C2069G:p.T690S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.C2069G:p.T690S;ENSG00000082397:ENST00000341928:exon14:c.C2069G:p.T690S;ENSG00000082397:ENST00000544123:exon13:c.C1562G:p.T521S;ENSG00000082397:ENST00000540638:exon13:c.C1562G:p.T521S;ENSG00000082397:ENST00000400111:exon13:c.C1562G:p.T521S;	0.961802470122951	0.792
18	5410617	G	T	18	5410618	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.C1562A:p.T521N;EPB41L3:NM_001281533:exon13:c.C1562A:p.T521N;EPB41L3:NM_001281535:exon15:c.C1235A:p.T412N;EPB41L3:NM_012307:exon14:c.C2069A:p.T690N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.C2069A:p.T690N;ENSG00000082397:ENST00000341928:exon14:c.C2069A:p.T690N;ENSG00000082397:ENST00000544123:exon13:c.C1562A:p.T521N;ENSG00000082397:ENST00000540638:exon13:c.C1562A:p.T521N;ENSG00000082397:ENST00000400111:exon13:c.C1562A:p.T521N;	0.979825934076257	0.77
18	5410618	T	A	18	5410619	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.A1561T:p.T521S;EPB41L3:NM_001281533:exon13:c.A1561T:p.T521S;EPB41L3:NM_001281535:exon15:c.A1234T:p.T412S;EPB41L3:NM_012307:exon14:c.A2068T:p.T690S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.A2068T:p.T690S;ENSG00000082397:ENST00000341928:exon14:c.A2068T:p.T690S;ENSG00000082397:ENST00000544123:exon13:c.A1561T:p.T521S;ENSG00000082397:ENST00000540638:exon13:c.A1561T:p.T521S;ENSG00000082397:ENST00000400111:exon13:c.A1561T:p.T521S;	0.631503685819541	0.496
18	5410618	T	C	18	5410619	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.A1561G:p.T521A;EPB41L3:NM_001281533:exon13:c.A1561G:p.T521A;EPB41L3:NM_001281535:exon15:c.A1234G:p.T412A;EPB41L3:NM_012307:exon14:c.A2068G:p.T690A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.A2068G:p.T690A;ENSG00000082397:ENST00000341928:exon14:c.A2068G:p.T690A;ENSG00000082397:ENST00000544123:exon13:c.A1561G:p.T521A;ENSG00000082397:ENST00000540638:exon13:c.A1561G:p.T521A;ENSG00000082397:ENST00000400111:exon13:c.A1561G:p.T521A;	0.519559289804093	0.572
18	5410618	T	G	18	5410619	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon13:c.A1561C:p.T521P;EPB41L3:NM_001281533:exon13:c.A1561C:p.T521P;EPB41L3:NM_001281535:exon15:c.A1234C:p.T412P;EPB41L3:NM_012307:exon14:c.A2068C:p.T690P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon14:c.A2068C:p.T690P;ENSG00000082397:ENST00000341928:exon14:c.A2068C:p.T690P;ENSG00000082397:ENST00000544123:exon13:c.A1561C:p.T521P;ENSG00000082397:ENST00000540638:exon13:c.A1561C:p.T521P;ENSG00000082397:ENST00000400111:exon13:c.A1561C:p.T521P;	0.558855504167743	0.594
18	5410619	C	A	18	5410620	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1234-1G>T;NM_001281533:exon14:c.1561-1G>T;NM_012307:exon15:c.2068-1G>T;NM_001281534:exon14:c.1561-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2068-1G>T;ENST00000544123:exon14:c.1561-1G>T;ENST00000540638:exon14:c.1561-1G>T;ENST00000400111:exon14:c.1561-1G>T;ENST00000342933:exon15:c.2068-1G>T)	.	.	0.999984967332678	0.946
18	5410619	C	G	18	5410620	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1234-1G>C;NM_001281533:exon14:c.1561-1G>C;NM_012307:exon15:c.2068-1G>C;NM_001281534:exon14:c.1561-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2068-1G>C;ENST00000544123:exon14:c.1561-1G>C;ENST00000540638:exon14:c.1561-1G>C;ENST00000400111:exon14:c.1561-1G>C;ENST00000342933:exon15:c.2068-1G>C)	.	.	0.999984967332678	0.946
18	5410619	C	T	18	5410620	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1234-1G>A;NM_001281533:exon14:c.1561-1G>A;NM_012307:exon15:c.2068-1G>A;NM_001281534:exon14:c.1561-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2068-1G>A;ENST00000544123:exon14:c.1561-1G>A;ENST00000540638:exon14:c.1561-1G>A;ENST00000400111:exon14:c.1561-1G>A;ENST00000342933:exon15:c.2068-1G>A)	.	.	0.999984967332678	0.946
18	5410620	T	A	18	5410621	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1234-2A>T;NM_001281533:exon14:c.1561-2A>T;NM_012307:exon15:c.2068-2A>T;NM_001281534:exon14:c.1561-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2068-2A>T;ENST00000544123:exon14:c.1561-2A>T;ENST00000540638:exon14:c.1561-2A>T;ENST00000400111:exon14:c.1561-2A>T;ENST00000342933:exon15:c.2068-2A>T)	.	.	0.999988624979899	0.944
18	5410620	T	C	18	5410621	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1234-2A>G;NM_001281533:exon14:c.1561-2A>G;NM_012307:exon15:c.2068-2A>G;NM_001281534:exon14:c.1561-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2068-2A>G;ENST00000544123:exon14:c.1561-2A>G;ENST00000540638:exon14:c.1561-2A>G;ENST00000400111:exon14:c.1561-2A>G;ENST00000342933:exon15:c.2068-2A>G)	.	.	0.999988624979899	0.944
18	5410620	T	G	18	5410621	y	y	splicing	EPB41L3(NM_001281535:exon16:c.1234-2A>C;NM_001281533:exon14:c.1561-2A>C;NM_012307:exon15:c.2068-2A>C;NM_001281534:exon14:c.1561-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon15:c.2068-2A>C;ENST00000544123:exon14:c.1561-2A>C;ENST00000540638:exon14:c.1561-2A>C;ENST00000400111:exon14:c.1561-2A>C;ENST00000342933:exon15:c.2068-2A>C)	.	.	0.999988624979899	0.944
18	5410621	G	A	18	5410622	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.93809203964902E-4	0.156
18	5410621	G	C	18	5410622	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997660626676523	0.738
18	5410621	G	T	18	5410622	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.953202576332762	0.676
18	5410622	T	A	18	5410623	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0121296660251263	0.154
18	5410622	T	C	18	5410623	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.985924931067139	0.758
18	5410622	T	G	18	5410623	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.58417141343275E-4	0.05
18	5410623	T	A	18	5410624	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.20561911767088E-5	0.0
18	5410623	T	C	18	5410624	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.1304391871894E-5	0.004
18	5410623	T	G	18	5410624	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.21189053966825E-5	0.002
18	5410624	G	A	18	5410625	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00182881900107355	0.036
18	5410624	G	C	18	5410625	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.88300407725958	0.648
18	5410624	G	T	18	5410625	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.88300407725958	0.63
18	5410625	A	C	18	5410626	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.919262081314818	0.722
18	5410625	A	G	18	5410626	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.75333235530815E-4	0.01
18	5410625	A	T	18	5410626	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.918482499731487	0.732
18	5410626	C	A	18	5410627	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.85785570111967E-5	0.036
18	5410626	C	G	18	5410627	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.70414912842622E-5	0.018
18	5410626	C	T	18	5410627	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.10944986587976E-4	0.05
18	5410627	C	A	18	5410628	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00243304906280817	0.104
18	5410627	C	G	18	5410628	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00162521325159843	0.106
18	5410627	C	T	18	5410628	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999321394936719	0.97
18	5410628	A	C	18	5410629	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.984494766566121	0.738
18	5410628	A	G	18	5410629	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.5570891725504E-4	0.218
18	5410628	A	T	18	5410629	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999975657412107	0.974
18	5410629	C	A	18	5410630	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00588337212328449	0.09
18	5410629	C	G	18	5410630	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0016707985604049	0.098
18	5410629	C	T	18	5410630	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.051976033567566	0.31
18	5410630	A	C	18	5410631	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.988307622572976	0.858
18	5410630	A	G	18	5410631	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00381071402476948	0.158
18	5410630	A	T	18	5410631	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999979978826734	0.982
18	5415809	G	A	18	5415810	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0430061569966091	0.21
18	5415809	G	C	18	5415810	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0360629582322184	0.138
18	5415809	G	T	18	5415810	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0497724978126176	0.202
18	5415810	T	A	18	5415811	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.441558145360366	0.314
18	5415810	T	C	18	5415811	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.104660848534612	0.366
18	5415810	T	G	18	5415811	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.110198190592603	0.39
18	5415811	A	C	18	5415812	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997809803935917	0.898
18	5415811	A	G	18	5415812	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.975183922405426	0.734
18	5415811	A	T	18	5415812	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997821414059659	0.852
18	5415812	C	A	18	5415813	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999977449312374	0.982
18	5415812	C	G	18	5415813	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999942531483094	0.95
18	5415812	C	T	18	5415813	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999865284852912	0.984
18	5415813	A	C	18	5415814	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0165529880541131	0.154
18	5415813	A	G	18	5415814	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.15695896776952	0.404
18	5415813	A	T	18	5415814	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00589189908592157	0.158
18	5415814	C	A	18	5415815	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.139240571464145	0.31
18	5415814	C	G	18	5415815	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.183839931374393	0.422
18	5415814	C	T	18	5415815	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00107246214052522	0.164
18	5415815	A	C	18	5415816	y	y	splicing	EPB41L3(NM_012307:exon14:c.2067+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.2067+2T>G;ENST00000342933:exon14:c.2067+2T>G)	.	.	0.999988247793601	0.926
18	5415815	A	G	18	5415816	y	y	splicing	EPB41L3(NM_012307:exon14:c.2067+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.2067+2T>C;ENST00000342933:exon14:c.2067+2T>C)	.	.	0.999929727175276	0.868
18	5415815	A	T	18	5415816	y	y	splicing	EPB41L3(NM_012307:exon14:c.2067+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.2067+2T>A;ENST00000342933:exon14:c.2067+2T>A)	.	.	0.999988247793601	0.928
18	5415816	C	A	18	5415817	y	y	splicing	EPB41L3(NM_012307:exon14:c.2067+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.2067+1G>T;ENST00000342933:exon14:c.2067+1G>T)	.	.	0.999985532734767	0.936
18	5415816	C	G	18	5415817	y	y	splicing	EPB41L3(NM_012307:exon14:c.2067+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.2067+1G>C;ENST00000342933:exon14:c.2067+1G>C)	.	.	0.999985532734767	0.936
18	5415816	C	T	18	5415817	y	y	splicing	EPB41L3(NM_012307:exon14:c.2067+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.2067+1G>A;ENST00000342933:exon14:c.2067+1G>A)	.	.	0.999985532734767	0.936
18	5415817	C	A	18	5415818	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.G2067T:p.E689D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.G2067T:p.E689D;ENSG00000082397:ENST00000341928:exon13:c.G2067T:p.E689D;	0.999970184844377	0.964
18	5415817	C	G	18	5415818	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.G2067C:p.E689D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.G2067C:p.E689D;ENSG00000082397:ENST00000341928:exon13:c.G2067C:p.E689D;	0.999996579472455	1.0
18	5415817	C	T	18	5415818	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_012307:exon13:c.G2067A:p.E689E;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.G2067A:p.E689E;ENSG00000082397:ENST00000341928:exon13:c.G2067A:p.E689E;	0.999934026659154	1.0
18	5415818	T	A	18	5415819	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.A2066T:p.E689V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.A2066T:p.E689V;ENSG00000082397:ENST00000341928:exon13:c.A2066T:p.E689V;	0.999929867744749	1.0
18	5415818	T	C	18	5415819	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.A2066G:p.E689G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.A2066G:p.E689G;ENSG00000082397:ENST00000341928:exon13:c.A2066G:p.E689G;	0.999923913552111	0.996
18	5415818	T	G	18	5415819	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.A2066C:p.E689A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.A2066C:p.E689A;ENSG00000082397:ENST00000341928:exon13:c.A2066C:p.E689A;	0.999535654705893	0.972
18	5415819	C	A	18	5415820	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_012307:exon13:c.G2065T:p.E689X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon13:c.G2065T:p.E689X;ENSG00000082397:ENST00000341928:exon13:c.G2065T:p.E689X;	0.965530539415027	0.816
18	5415819	C	G	18	5415820	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.G2065C:p.E689Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.G2065C:p.E689Q;ENSG00000082397:ENST00000341928:exon13:c.G2065C:p.E689Q;	0.921435538975915	0.714
18	5415819	C	T	18	5415820	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.G2065A:p.E689K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.G2065A:p.E689K;ENSG00000082397:ENST00000341928:exon13:c.G2065A:p.E689K;	0.929442731714151	0.74
18	5416376	G	A	18	5416377	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.C1508T:p.S503L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.C1508T:p.S503L;ENSG00000082397:ENST00000341928:exon13:c.C1508T:p.S503L;	0.533798236513852	0.494
18	5416376	G	C	18	5416377	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_012307:exon13:c.C1508G:p.S503X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon13:c.C1508G:p.S503X;ENSG00000082397:ENST00000341928:exon13:c.C1508G:p.S503X;	0.972142637615696	0.84
18	5416376	G	T	18	5416377	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_012307:exon13:c.C1508A:p.S503X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon13:c.C1508A:p.S503X;ENSG00000082397:ENST00000341928:exon13:c.C1508A:p.S503X;	0.989138311551749	0.908
18	5416377	A	C	18	5416378	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.T1507G:p.S503A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.T1507G:p.S503A;ENSG00000082397:ENST00000341928:exon13:c.T1507G:p.S503A;	0.00128657714920858	0.144
18	5416377	A	G	18	5416378	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.T1507C:p.S503P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.T1507C:p.S503P;ENSG00000082397:ENST00000341928:exon13:c.T1507C:p.S503P;	8.47444462992182E-4	0.066
18	5416377	A	T	18	5416378	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_012307:exon13:c.T1507A:p.S503T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon13:c.T1507A:p.S503T;ENSG00000082397:ENST00000341928:exon13:c.T1507A:p.S503T;	1.36418576065156E-4	0.0
18	5416378	C	A	18	5416379	y	y	splicing	EPB41L3(NM_012307:exon14:c.1507-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.1507-1G>T;ENST00000342933:exon14:c.1507-1G>T)	.	.	0.999951608398927	0.924
18	5416378	C	G	18	5416379	y	y	splicing	EPB41L3(NM_012307:exon14:c.1507-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.1507-1G>C;ENST00000342933:exon14:c.1507-1G>C)	.	.	0.999951608398927	0.922
18	5416378	C	T	18	5416379	y	y	splicing	EPB41L3(NM_012307:exon14:c.1507-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.1507-1G>A;ENST00000342933:exon14:c.1507-1G>A)	.	.	0.999981247005408	0.924
18	5416379	T	A	18	5416380	y	y	splicing	EPB41L3(NM_012307:exon14:c.1507-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.1507-2A>T;ENST00000342933:exon14:c.1507-2A>T)	.	.	0.999992076683048	0.926
18	5416379	T	C	18	5416380	y	y	splicing	EPB41L3(NM_012307:exon14:c.1507-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.1507-2A>G;ENST00000342933:exon14:c.1507-2A>G)	.	.	0.999988967428597	0.924
18	5416379	T	G	18	5416380	y	y	splicing	EPB41L3(NM_012307:exon14:c.1507-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon14:c.1507-2A>C;ENST00000342933:exon14:c.1507-2A>C)	.	.	0.999992076683048	0.926
18	5416380	G	A	18	5416381	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00252014253697517	0.158
18	5416380	G	C	18	5416381	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999901540421798	0.938
18	5416380	G	T	18	5416381	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.991795692705749	0.798
18	5416381	A	C	18	5416382	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.763687979545023	0.528
18	5416381	A	G	18	5416382	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00507643150488445	0.032
18	5416381	A	T	18	5416382	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00617359123388439	0.066
18	5416382	T	A	18	5416383	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.56873260781831E-4	0.01
18	5416382	T	C	18	5416383	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.74116713871294E-4	0.012
18	5416382	T	G	18	5416383	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.59934012983104E-4	0.006
18	5416383	G	A	18	5416384	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.5997111281942E-4	0.026
18	5416383	G	C	18	5416384	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999861979125676	0.94
18	5416383	G	T	18	5416384	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0771309927469714	0.506
18	5416384	T	A	18	5416385	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.25638471225344E-4	0.014
18	5416384	T	C	18	5416385	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00204557425164088	0.004
18	5416384	T	G	18	5416385	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00123786313758131	0.022
18	5416385	G	A	18	5416386	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0132667331411272	0.196
18	5416385	G	C	18	5416386	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.490649963870099	0.398
18	5416385	G	T	18	5416386	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.446448067125698	0.402
18	5416386	A	C	18	5416387	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995844269259136	0.818
18	5416386	A	G	18	5416387	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00832520666517926	0.162
18	5416386	A	T	18	5416387	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998182939529205	0.868
18	5416387	A	C	18	5416388	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.394983422809505	0.474
18	5416387	A	G	18	5416388	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.85729421508243E-5	0.138
18	5416387	A	T	18	5416388	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.627864852214728	0.416
18	5416388	A	C	18	5416389	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.991581246131812	0.754
18	5416388	A	G	18	5416389	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.45389228969831	0.292
18	5416388	A	T	18	5416389	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997399818580262	0.806
18	5416389	G	A	18	5416390	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0191116361918194	0.092
18	5416389	G	C	18	5416390	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.170540874910995	0.102
18	5416389	G	T	18	5416390	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.165351219247616	0.27
18	5419702	A	C	18	5419703	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.65991358369193E-4	0.07
18	5419702	A	G	18	5419703	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00138379602535369	0.04
18	5419702	A	T	18	5419703	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.42840064603886E-4	0.104
18	5419703	G	A	18	5419704	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.95472620876105	0.588
18	5419703	G	C	18	5419704	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.727639137792365	0.548
18	5419703	G	T	18	5419704	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.791979499759208	0.514
18	5419704	C	A	18	5419705	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.71863342936776E-4	0.082
18	5419704	C	G	18	5419705	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00135160525871544	0.134
18	5419704	C	T	18	5419705	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.63920415219089E-4	0.138
18	5419705	T	A	18	5419706	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0012430228213909	0.054
18	5419705	T	C	18	5419706	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.80874656689178E-4	0.184
18	5419705	T	G	18	5419706	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.24562745561072E-4	0.046
18	5419706	A	C	18	5419707	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.26875514720113E-4	0.022
18	5419706	A	G	18	5419707	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.8165658454543E-4	0.092
18	5419706	A	T	18	5419707	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.35966154196636E-5	0.08
18	5419707	T	A	18	5419708	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999956793153331	0.914
18	5419707	T	C	18	5419708	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999919194392122	0.92
18	5419707	T	G	18	5419708	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999974709611947	0.916
18	5419708	A	C	18	5419709	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1233+2T>G;NM_001281533:exon13:c.1560+2T>G;NM_012307:exon13:c.1506+2T>G;NM_001281534:exon13:c.1560+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon13:c.1506+2T>G;ENST00000544123:exon13:c.1560+2T>G;ENST00000540638:exon13:c.1560+2T>G;ENST00000400111:exon13:c.1560+2T>G;ENST00000342933:exon13:c.1506+2T>G)	.	.	0.999986741007567	0.946
18	5419708	A	G	18	5419709	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1233+2T>C;NM_001281533:exon13:c.1560+2T>C;NM_012307:exon13:c.1506+2T>C;NM_001281534:exon13:c.1560+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon13:c.1506+2T>C;ENST00000544123:exon13:c.1560+2T>C;ENST00000540638:exon13:c.1560+2T>C;ENST00000400111:exon13:c.1560+2T>C;ENST00000342933:exon13:c.1506+2T>C)	.	.	0.990598276877149	0.698
18	5419708	A	T	18	5419709	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1233+2T>A;NM_001281533:exon13:c.1560+2T>A;NM_012307:exon13:c.1506+2T>A;NM_001281534:exon13:c.1560+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon13:c.1506+2T>A;ENST00000544123:exon13:c.1560+2T>A;ENST00000540638:exon13:c.1560+2T>A;ENST00000400111:exon13:c.1560+2T>A;ENST00000342933:exon13:c.1506+2T>A)	.	.	0.999986741007567	0.946
18	5419709	C	A	18	5419710	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1233+1G>T;NM_001281533:exon13:c.1560+1G>T;NM_012307:exon13:c.1506+1G>T;NM_001281534:exon13:c.1560+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon13:c.1506+1G>T;ENST00000544123:exon13:c.1560+1G>T;ENST00000540638:exon13:c.1560+1G>T;ENST00000400111:exon13:c.1560+1G>T;ENST00000342933:exon13:c.1506+1G>T)	.	.	0.999989125585301	0.944
18	5419709	C	G	18	5419710	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1233+1G>C;NM_001281533:exon13:c.1560+1G>C;NM_012307:exon13:c.1506+1G>C;NM_001281534:exon13:c.1560+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon13:c.1506+1G>C;ENST00000544123:exon13:c.1560+1G>C;ENST00000540638:exon13:c.1560+1G>C;ENST00000400111:exon13:c.1560+1G>C;ENST00000342933:exon13:c.1506+1G>C)	.	.	0.999989125585301	0.944
18	5419709	C	T	18	5419710	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1233+1G>A;NM_001281533:exon13:c.1560+1G>A;NM_012307:exon13:c.1506+1G>A;NM_001281534:exon13:c.1560+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon13:c.1506+1G>A;ENST00000544123:exon13:c.1560+1G>A;ENST00000540638:exon13:c.1560+1G>A;ENST00000400111:exon13:c.1560+1G>A;ENST00000342933:exon13:c.1506+1G>A)	.	.	0.999989125585301	0.944
18	5419710	C	A	18	5419711	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.G1560T:p.K520N;EPB41L3:NM_001281533:exon12:c.G1560T:p.K520N;EPB41L3:NM_001281535:exon14:c.G1233T:p.K411N;EPB41L3:NM_012307:exon12:c.G1506T:p.K502N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon12:c.G1506T:p.K502N;ENSG00000082397:ENST00000341928:exon12:c.G1506T:p.K502N;ENSG00000082397:ENST00000544123:exon12:c.G1560T:p.K520N;ENSG00000082397:ENST00000540638:exon12:c.G1560T:p.K520N;ENSG00000082397:ENST00000400111:exon12:c.G1560T:p.K520N;	0.999994369361683	1.0
18	5419710	C	G	18	5419711	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.G1560C:p.K520N;EPB41L3:NM_001281533:exon12:c.G1560C:p.K520N;EPB41L3:NM_001281535:exon14:c.G1233C:p.K411N;EPB41L3:NM_012307:exon12:c.G1506C:p.K502N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon12:c.G1506C:p.K502N;ENSG00000082397:ENST00000341928:exon12:c.G1506C:p.K502N;ENSG00000082397:ENST00000544123:exon12:c.G1560C:p.K520N;ENSG00000082397:ENST00000540638:exon12:c.G1560C:p.K520N;ENSG00000082397:ENST00000400111:exon12:c.G1560C:p.K520N;	0.999997021997492	1.0
18	5419710	C	T	18	5419711	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon12:c.G1560A:p.K520K;EPB41L3:NM_001281533:exon12:c.G1560A:p.K520K;EPB41L3:NM_001281535:exon14:c.G1233A:p.K411K;EPB41L3:NM_012307:exon12:c.G1506A:p.K502K;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon12:c.G1506A:p.K502K;ENSG00000082397:ENST00000341928:exon12:c.G1506A:p.K502K;ENSG00000082397:ENST00000544123:exon12:c.G1560A:p.K520K;ENSG00000082397:ENST00000540638:exon12:c.G1560A:p.K520K;ENSG00000082397:ENST00000400111:exon12:c.G1560A:p.K520K;	0.999993459975103	1.0
18	5419711	T	A	18	5419712	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.A1559T:p.K520M;EPB41L3:NM_001281533:exon12:c.A1559T:p.K520M;EPB41L3:NM_001281535:exon14:c.A1232T:p.K411M;EPB41L3:NM_012307:exon12:c.A1505T:p.K502M;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon12:c.A1505T:p.K502M;ENSG00000082397:ENST00000341928:exon12:c.A1505T:p.K502M;ENSG00000082397:ENST00000544123:exon12:c.A1559T:p.K520M;ENSG00000082397:ENST00000540638:exon12:c.A1559T:p.K520M;ENSG00000082397:ENST00000400111:exon12:c.A1559T:p.K520M;	0.99996345666726	0.998
18	5419711	T	C	18	5419712	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.A1559G:p.K520R;EPB41L3:NM_001281533:exon12:c.A1559G:p.K520R;EPB41L3:NM_001281535:exon14:c.A1232G:p.K411R;EPB41L3:NM_012307:exon12:c.A1505G:p.K502R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon12:c.A1505G:p.K502R;ENSG00000082397:ENST00000341928:exon12:c.A1505G:p.K502R;ENSG00000082397:ENST00000544123:exon12:c.A1559G:p.K520R;ENSG00000082397:ENST00000540638:exon12:c.A1559G:p.K520R;ENSG00000082397:ENST00000400111:exon12:c.A1559G:p.K520R;	0.99995310659768	0.992
18	5419711	T	G	18	5419712	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.A1559C:p.K520T;EPB41L3:NM_001281533:exon12:c.A1559C:p.K520T;EPB41L3:NM_001281535:exon14:c.A1232C:p.K411T;EPB41L3:NM_012307:exon12:c.A1505C:p.K502T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon12:c.A1505C:p.K502T;ENSG00000082397:ENST00000341928:exon12:c.A1505C:p.K502T;ENSG00000082397:ENST00000544123:exon12:c.A1559C:p.K520T;ENSG00000082397:ENST00000540638:exon12:c.A1559C:p.K520T;ENSG00000082397:ENST00000400111:exon12:c.A1559C:p.K520T;	0.999922996269826	0.98
18	5419712	T	A	18	5419713	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon12:c.A1558T:p.K520X;EPB41L3:NM_001281533:exon12:c.A1558T:p.K520X;EPB41L3:NM_001281535:exon14:c.A1231T:p.K411X;EPB41L3:NM_012307:exon12:c.A1504T:p.K502X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon12:c.A1504T:p.K502X;ENSG00000082397:ENST00000341928:exon12:c.A1504T:p.K502X;ENSG00000082397:ENST00000544123:exon12:c.A1558T:p.K520X;ENSG00000082397:ENST00000540638:exon12:c.A1558T:p.K520X;ENSG00000082397:ENST00000400111:exon12:c.A1558T:p.K520X;	0.99932388515844	0.892
18	5419712	T	C	18	5419713	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.A1558G:p.K520E;EPB41L3:NM_001281533:exon12:c.A1558G:p.K520E;EPB41L3:NM_001281535:exon14:c.A1231G:p.K411E;EPB41L3:NM_012307:exon12:c.A1504G:p.K502E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon12:c.A1504G:p.K502E;ENSG00000082397:ENST00000341928:exon12:c.A1504G:p.K502E;ENSG00000082397:ENST00000544123:exon12:c.A1558G:p.K520E;ENSG00000082397:ENST00000540638:exon12:c.A1558G:p.K520E;ENSG00000082397:ENST00000400111:exon12:c.A1558G:p.K520E;	0.334126136217663	0.43
18	5419712	T	G	18	5419713	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.A1558C:p.K520Q;EPB41L3:NM_001281533:exon12:c.A1558C:p.K520Q;EPB41L3:NM_001281535:exon14:c.A1231C:p.K411Q;EPB41L3:NM_012307:exon12:c.A1504C:p.K502Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon12:c.A1504C:p.K502Q;ENSG00000082397:ENST00000341928:exon12:c.A1504C:p.K502Q;ENSG00000082397:ENST00000544123:exon12:c.A1558C:p.K520Q;ENSG00000082397:ENST00000540638:exon12:c.A1558C:p.K520Q;ENSG00000082397:ENST00000400111:exon12:c.A1558C:p.K520Q;	0.762086568175268	0.632
18	5419929	T	A	18	5419930	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon12:c.A1341T:p.A447A;EPB41L3:NM_001281533:exon12:c.A1341T:p.A447A;EPB41L3:NM_001281535:exon14:c.A1014T:p.A338A;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000544123:exon12:c.A1341T:p.A447A;ENSG00000082397:ENST00000584670:exon5:c.A312T:p.A104A;ENSG00000082397:ENST00000540638:exon12:c.A1341T:p.A447A;ENSG00000082397:ENST00000400111:exon12:c.A1341T:p.A447A;	9.12605706092346E-5	0.01
18	5419929	T	C	18	5419930	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon12:c.A1341G:p.A447A;EPB41L3:NM_001281533:exon12:c.A1341G:p.A447A;EPB41L3:NM_001281535:exon14:c.A1014G:p.A338A;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000544123:exon12:c.A1341G:p.A447A;ENSG00000082397:ENST00000584670:exon5:c.A312G:p.A104A;ENSG00000082397:ENST00000540638:exon12:c.A1341G:p.A447A;ENSG00000082397:ENST00000400111:exon12:c.A1341G:p.A447A;	8.67782699912374E-5	0.028
18	5419929	T	G	18	5419930	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon12:c.A1341C:p.A447A;EPB41L3:NM_001281533:exon12:c.A1341C:p.A447A;EPB41L3:NM_001281535:exon14:c.A1014C:p.A338A;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000544123:exon12:c.A1341C:p.A447A;ENSG00000082397:ENST00000584670:exon5:c.A312C:p.A104A;ENSG00000082397:ENST00000540638:exon12:c.A1341C:p.A447A;ENSG00000082397:ENST00000400111:exon12:c.A1341C:p.A447A;	9.02845861272082E-5	0.058
18	5419930	G	A	18	5419931	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.C1340T:p.A447V;EPB41L3:NM_001281533:exon12:c.C1340T:p.A447V;EPB41L3:NM_001281535:exon14:c.C1013T:p.A338V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000544123:exon12:c.C1340T:p.A447V;ENSG00000082397:ENST00000584670:exon5:c.C311T:p.A104V;ENSG00000082397:ENST00000540638:exon12:c.C1340T:p.A447V;ENSG00000082397:ENST00000400111:exon12:c.C1340T:p.A447V;	0.909582474685508	0.704
18	5419930	G	C	18	5419931	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.C1340G:p.A447G;EPB41L3:NM_001281533:exon12:c.C1340G:p.A447G;EPB41L3:NM_001281535:exon14:c.C1013G:p.A338G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000544123:exon12:c.C1340G:p.A447G;ENSG00000082397:ENST00000584670:exon5:c.C311G:p.A104G;ENSG00000082397:ENST00000540638:exon12:c.C1340G:p.A447G;ENSG00000082397:ENST00000400111:exon12:c.C1340G:p.A447G;	0.761229237580339	0.494
18	5419930	G	T	18	5419931	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon12:c.C1340A:p.A447E;EPB41L3:NM_001281533:exon12:c.C1340A:p.A447E;EPB41L3:NM_001281535:exon14:c.C1013A:p.A338E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000544123:exon12:c.C1340A:p.A447E;ENSG00000082397:ENST00000584670:exon5:c.C311A:p.A104E;ENSG00000082397:ENST00000540638:exon12:c.C1340A:p.A447E;ENSG00000082397:ENST00000400111:exon12:c.C1340A:p.A447E;	0.761229237580339	0.56
18	5419931	C	A	18	5419932	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1013-1G>T;NM_001281533:exon13:c.1340-1G>T;NM_001281534:exon13:c.1340-1G>T)	.	.	splicing	ENSG00000082397(ENST00000544123:exon13:c.1340-1G>T;ENST00000540638:exon13:c.1340-1G>T;ENST00000400111:exon13:c.1340-1G>T;ENST00000584670:exon6:c.311-1G>T)	.	.	0.992474646220614	0.87
18	5419931	C	G	18	5419932	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1013-1G>C;NM_001281533:exon13:c.1340-1G>C;NM_001281534:exon13:c.1340-1G>C)	.	.	splicing	ENSG00000082397(ENST00000544123:exon13:c.1340-1G>C;ENST00000540638:exon13:c.1340-1G>C;ENST00000400111:exon13:c.1340-1G>C;ENST00000584670:exon6:c.311-1G>C)	.	.	0.992474646220614	0.87
18	5419931	C	T	18	5419932	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1013-1G>A;NM_001281533:exon13:c.1340-1G>A;NM_001281534:exon13:c.1340-1G>A)	.	.	splicing	ENSG00000082397(ENST00000544123:exon13:c.1340-1G>A;ENST00000540638:exon13:c.1340-1G>A;ENST00000400111:exon13:c.1340-1G>A;ENST00000584670:exon6:c.311-1G>A)	.	.	0.992474646220614	0.868
18	5419932	T	A	18	5419933	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1013-2A>T;NM_001281533:exon13:c.1340-2A>T;NM_001281534:exon13:c.1340-2A>T)	.	.	splicing	ENSG00000082397(ENST00000544123:exon13:c.1340-2A>T;ENST00000540638:exon13:c.1340-2A>T;ENST00000400111:exon13:c.1340-2A>T;ENST00000584670:exon6:c.311-2A>T)	.	.	0.897610241732012	0.68
18	5419932	T	C	18	5419933	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1013-2A>G;NM_001281533:exon13:c.1340-2A>G;NM_001281534:exon13:c.1340-2A>G)	.	.	splicing	ENSG00000082397(ENST00000544123:exon13:c.1340-2A>G;ENST00000540638:exon13:c.1340-2A>G;ENST00000400111:exon13:c.1340-2A>G;ENST00000584670:exon6:c.311-2A>G)	.	.	0.897610241732012	0.694
18	5419932	T	G	18	5419933	y	y	splicing	EPB41L3(NM_001281535:exon15:c.1013-2A>C;NM_001281533:exon13:c.1340-2A>C;NM_001281534:exon13:c.1340-2A>C)	.	.	splicing	ENSG00000082397(ENST00000544123:exon13:c.1340-2A>C;ENST00000540638:exon13:c.1340-2A>C;ENST00000400111:exon13:c.1340-2A>C;ENST00000584670:exon6:c.311-2A>C)	.	.	0.897610241732012	0.694
18	5419933	A	C	18	5419934	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0445861485340365	0.152
18	5419933	A	G	18	5419934	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0445861485340365	0.152
18	5419933	A	T	18	5419934	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.184478877540035	0.404
18	5419934	A	C	18	5419935	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.184478877540035	0.462
18	5419934	A	G	18	5419935	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.184478877540035	0.464
18	5419934	A	T	18	5419935	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.379090011403407	0.444
18	5419935	A	C	18	5419936	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.184478877540035	0.462
18	5419935	A	G	18	5419936	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.184478877540035	0.4
18	5419935	A	T	18	5419936	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.379090011403407	0.448
18	5419936	A	C	18	5419937	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0316309368216039	0.066
18	5419936	A	G	18	5419937	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0316309368216039	0.05
18	5419936	A	T	18	5419937	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0377542596634336	0.136
18	5419937	G	A	18	5419938	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.761229237580339	0.55
18	5419937	G	C	18	5419938	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.149749968069379	0.244
18	5419937	G	T	18	5419938	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.761229237580339	0.424
18	5419938	C	A	18	5419939	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00374641124920048	0.028
18	5419938	C	G	18	5419939	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00364554359801952	0.028
18	5419938	C	T	18	5419939	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00374641124920048	0.028
18	5419939	A	C	18	5419940	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.915888928777796	0.73
18	5419939	A	G	18	5419940	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.915888928777796	0.73
18	5419939	A	T	18	5419940	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.915888928777796	0.754
18	5419940	A	C	18	5419941	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0394358151388932	0.212
18	5419940	A	G	18	5419941	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0394358151388932	0.208
18	5419940	A	T	18	5419941	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.039322880240544	0.198
18	5419941	A	C	18	5419942	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.930320610331085	0.694
18	5419941	A	G	18	5419942	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.930320610331085	0.694
18	5419941	A	T	18	5419942	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.917131522354322	0.702
18	5419942	T	A	18	5419943	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.897610241732012	0.684
18	5419942	T	C	18	5419943	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.897610241732012	0.692
18	5419942	T	G	18	5419943	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.897610241732012	0.694
18	5423369	A	C	18	5423370	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.03881254229602E-4	0.01
18	5423369	A	G	18	5423370	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.03881254229602E-4	0.01
18	5423369	A	T	18	5423370	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.54159061960521E-4	0.002
18	5423370	T	A	18	5423371	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.47421033825276E-4	0.0
18	5423370	T	C	18	5423371	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.88996967838159E-5	0.0
18	5423370	T	G	18	5423371	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.25903883446123E-4	0.0
18	5423371	G	A	18	5423372	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.16949916251547E-5	0.026
18	5423371	G	C	18	5423372	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00116540467940163	0.202
18	5423371	G	T	18	5423372	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.89273922397556E-4	0.084
18	5423372	C	A	18	5423373	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999928445303587	0.938
18	5423372	C	G	18	5423373	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999686093524737	0.946
18	5423372	C	T	18	5423373	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99987880681152	0.99
18	5423373	C	A	18	5423374	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.33270117062224E-5	0.046
18	5423373	C	G	18	5423374	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.50831058122432E-4	0.13
18	5423373	C	T	18	5423374	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.31056072748467E-5	0.026
18	5423374	T	A	18	5423375	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995221462834346	0.798
18	5423374	T	C	18	5423375	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.581820144899085	0.642
18	5423374	T	G	18	5423375	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.983130889594601	0.76
18	5423375	A	C	18	5423376	y	y	splicing	EPB41L3(NM_001281535:exon14:c.1012+2T>G;NM_001281533:exon12:c.1339+2T>G;NM_012307:exon12:c.1339+2T>G;NM_001281534:exon12:c.1339+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1339+2T>G;ENST00000544123:exon12:c.1339+2T>G;ENST00000540638:exon12:c.1339+2T>G;ENST00000400111:exon12:c.1339+2T>G;ENST00000342933:exon12:c.1339+2T>G;ENST00000584670:exon5:c.310+2T>G)	.	.	0.999988247793601	0.948
18	5423375	A	G	18	5423376	y	y	splicing	EPB41L3(NM_001281535:exon14:c.1012+2T>C;NM_001281533:exon12:c.1339+2T>C;NM_012307:exon12:c.1339+2T>C;NM_001281534:exon12:c.1339+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1339+2T>C;ENST00000544123:exon12:c.1339+2T>C;ENST00000540638:exon12:c.1339+2T>C;ENST00000400111:exon12:c.1339+2T>C;ENST00000342933:exon12:c.1339+2T>C;ENST00000584670:exon5:c.310+2T>C)	.	.	0.997082385503644	0.702
18	5423375	A	T	18	5423376	y	y	splicing	EPB41L3(NM_001281535:exon14:c.1012+2T>A;NM_001281533:exon12:c.1339+2T>A;NM_012307:exon12:c.1339+2T>A;NM_001281534:exon12:c.1339+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1339+2T>A;ENST00000544123:exon12:c.1339+2T>A;ENST00000540638:exon12:c.1339+2T>A;ENST00000400111:exon12:c.1339+2T>A;ENST00000342933:exon12:c.1339+2T>A;ENST00000584670:exon5:c.310+2T>A)	.	.	0.999988247793601	0.948
18	5423376	C	A	18	5423377	y	y	splicing	EPB41L3(NM_001281535:exon14:c.1012+1G>T;NM_001281533:exon12:c.1339+1G>T;NM_012307:exon12:c.1339+1G>T;NM_001281534:exon12:c.1339+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1339+1G>T;ENST00000544123:exon12:c.1339+1G>T;ENST00000540638:exon12:c.1339+1G>T;ENST00000400111:exon12:c.1339+1G>T;ENST00000342933:exon12:c.1339+1G>T;ENST00000584670:exon5:c.310+1G>T)	.	.	0.999989072007339	0.946
18	5423376	C	G	18	5423377	y	y	splicing	EPB41L3(NM_001281535:exon14:c.1012+1G>C;NM_001281533:exon12:c.1339+1G>C;NM_012307:exon12:c.1339+1G>C;NM_001281534:exon12:c.1339+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1339+1G>C;ENST00000544123:exon12:c.1339+1G>C;ENST00000540638:exon12:c.1339+1G>C;ENST00000400111:exon12:c.1339+1G>C;ENST00000342933:exon12:c.1339+1G>C;ENST00000584670:exon5:c.310+1G>C)	.	.	0.999989072007339	0.946
18	5423376	C	T	18	5423377	y	y	splicing	EPB41L3(NM_001281535:exon14:c.1012+1G>A;NM_001281533:exon12:c.1339+1G>A;NM_012307:exon12:c.1339+1G>A;NM_001281534:exon12:c.1339+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1339+1G>A;ENST00000544123:exon12:c.1339+1G>A;ENST00000540638:exon12:c.1339+1G>A;ENST00000400111:exon12:c.1339+1G>A;ENST00000342933:exon12:c.1339+1G>A;ENST00000584670:exon5:c.310+1G>A)	.	.	0.999989072007339	0.946
18	5423377	C	A	18	5423378	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_012307:exon11:c.G1339T:p.E447X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon11:c.G1339T:p.E447X;ENSG00000082397:ENST00000341928:exon11:c.G1339T:p.E447X;	0.999991608701042	0.986
18	5423377	C	G	18	5423378	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.G1339C:p.A447P;EPB41L3:NM_001281533:exon11:c.G1339C:p.A447P;EPB41L3:NM_001281535:exon13:c.G1012C:p.A338P;EPB41L3:NM_012307:exon11:c.G1339C:p.E447Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.G1339C:p.E447Q;ENSG00000082397:ENST00000341928:exon11:c.G1339C:p.E447Q;ENSG00000082397:ENST00000544123:exon11:c.G1339C:p.A447P;ENSG00000082397:ENST00000584670:exon4:c.G310C:p.A104P;ENSG00000082397:ENST00000540638:exon11:c.G1339C:p.A447P;ENSG00000082397:ENST00000400111:exon11:c.G1339C:p.A447P;	0.999992223772155	0.982
18	5423377	C	T	18	5423378	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.G1339A:p.A447T;EPB41L3:NM_001281533:exon11:c.G1339A:p.A447T;EPB41L3:NM_001281535:exon13:c.G1012A:p.A338T;EPB41L3:NM_012307:exon11:c.G1339A:p.E447K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.G1339A:p.E447K;ENSG00000082397:ENST00000341928:exon11:c.G1339A:p.E447K;ENSG00000082397:ENST00000544123:exon11:c.G1339A:p.A447T;ENSG00000082397:ENST00000584670:exon4:c.G310A:p.A104T;ENSG00000082397:ENST00000540638:exon11:c.G1339A:p.A447T;ENSG00000082397:ENST00000400111:exon11:c.G1339A:p.A447T;	0.999989836799713	1.0
18	5423378	T	A	18	5423379	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon11:c.A1338T:p.G446G;EPB41L3:NM_001281533:exon11:c.A1338T:p.G446G;EPB41L3:NM_001281535:exon13:c.A1011T:p.G337G;EPB41L3:NM_012307:exon11:c.A1338T:p.G446G;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.A1338T:p.G446G;ENSG00000082397:ENST00000341928:exon11:c.A1338T:p.G446G;ENSG00000082397:ENST00000544123:exon11:c.A1338T:p.G446G;ENSG00000082397:ENST00000584670:exon4:c.A309T:p.G103G;ENSG00000082397:ENST00000540638:exon11:c.A1338T:p.G446G;ENSG00000082397:ENST00000400111:exon11:c.A1338T:p.G446G;	0.999923809376286	0.992
18	5423378	T	C	18	5423379	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon11:c.A1338G:p.G446G;EPB41L3:NM_001281533:exon11:c.A1338G:p.G446G;EPB41L3:NM_001281535:exon13:c.A1011G:p.G337G;EPB41L3:NM_012307:exon11:c.A1338G:p.G446G;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.A1338G:p.G446G;ENSG00000082397:ENST00000341928:exon11:c.A1338G:p.G446G;ENSG00000082397:ENST00000544123:exon11:c.A1338G:p.G446G;ENSG00000082397:ENST00000584670:exon4:c.A309G:p.G103G;ENSG00000082397:ENST00000540638:exon11:c.A1338G:p.G446G;ENSG00000082397:ENST00000400111:exon11:c.A1338G:p.G446G;	0.999663474143106	0.99
18	5423378	T	G	18	5423379	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon11:c.A1338C:p.G446G;EPB41L3:NM_001281533:exon11:c.A1338C:p.G446G;EPB41L3:NM_001281535:exon13:c.A1011C:p.G337G;EPB41L3:NM_012307:exon11:c.A1338C:p.G446G;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.A1338C:p.G446G;ENSG00000082397:ENST00000341928:exon11:c.A1338C:p.G446G;ENSG00000082397:ENST00000544123:exon11:c.A1338C:p.G446G;ENSG00000082397:ENST00000584670:exon4:c.A309C:p.G103G;ENSG00000082397:ENST00000540638:exon11:c.A1338C:p.G446G;ENSG00000082397:ENST00000400111:exon11:c.A1338C:p.G446G;	0.999401368225025	0.962
18	5423379	C	A	18	5423380	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.G1337T:p.G446V;EPB41L3:NM_001281533:exon11:c.G1337T:p.G446V;EPB41L3:NM_001281535:exon13:c.G1010T:p.G337V;EPB41L3:NM_012307:exon11:c.G1337T:p.G446V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.G1337T:p.G446V;ENSG00000082397:ENST00000341928:exon11:c.G1337T:p.G446V;ENSG00000082397:ENST00000544123:exon11:c.G1337T:p.G446V;ENSG00000082397:ENST00000584670:exon4:c.G308T:p.G103V;ENSG00000082397:ENST00000540638:exon11:c.G1337T:p.G446V;ENSG00000082397:ENST00000400111:exon11:c.G1337T:p.G446V;	0.993443646915416	0.824
18	5423379	C	G	18	5423380	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.G1337C:p.G446A;EPB41L3:NM_001281533:exon11:c.G1337C:p.G446A;EPB41L3:NM_001281535:exon13:c.G1010C:p.G337A;EPB41L3:NM_012307:exon11:c.G1337C:p.G446A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.G1337C:p.G446A;ENSG00000082397:ENST00000341928:exon11:c.G1337C:p.G446A;ENSG00000082397:ENST00000544123:exon11:c.G1337C:p.G446A;ENSG00000082397:ENST00000584670:exon4:c.G308C:p.G103A;ENSG00000082397:ENST00000540638:exon11:c.G1337C:p.G446A;ENSG00000082397:ENST00000400111:exon11:c.G1337C:p.G446A;	0.963434562345683	0.754
18	5423379	C	T	18	5423380	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.G1337A:p.G446E;EPB41L3:NM_001281533:exon11:c.G1337A:p.G446E;EPB41L3:NM_001281535:exon13:c.G1010A:p.G337E;EPB41L3:NM_012307:exon11:c.G1337A:p.G446E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.G1337A:p.G446E;ENSG00000082397:ENST00000341928:exon11:c.G1337A:p.G446E;ENSG00000082397:ENST00000544123:exon11:c.G1337A:p.G446E;ENSG00000082397:ENST00000584670:exon4:c.G308A:p.G103E;ENSG00000082397:ENST00000540638:exon11:c.G1337A:p.G446E;ENSG00000082397:ENST00000400111:exon11:c.G1337A:p.G446E;	0.963434562345683	0.766
18	5423551	G	A	18	5423552	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon11:c.C1165T:p.L389L;EPB41L3:NM_001281533:exon11:c.C1165T:p.L389L;EPB41L3:NM_001281535:exon13:c.C838T:p.L280L;EPB41L3:NM_012307:exon11:c.C1165T:p.L389L;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.C1165T:p.L389L;ENSG00000082397:ENST00000341928:exon11:c.C1165T:p.L389L;ENSG00000082397:ENST00000544123:exon11:c.C1165T:p.L389L;ENSG00000082397:ENST00000584670:exon4:c.C136T:p.L46L;ENSG00000082397:ENST00000540638:exon11:c.C1165T:p.L389L;ENSG00000082397:ENST00000400111:exon11:c.C1165T:p.L389L;	9.76658345091902E-5	0.0
18	5423551	G	C	18	5423552	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.C1165G:p.L389V;EPB41L3:NM_001281533:exon11:c.C1165G:p.L389V;EPB41L3:NM_001281535:exon13:c.C838G:p.L280V;EPB41L3:NM_012307:exon11:c.C1165G:p.L389V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.C1165G:p.L389V;ENSG00000082397:ENST00000341928:exon11:c.C1165G:p.L389V;ENSG00000082397:ENST00000544123:exon11:c.C1165G:p.L389V;ENSG00000082397:ENST00000584670:exon4:c.C136G:p.L46V;ENSG00000082397:ENST00000540638:exon11:c.C1165G:p.L389V;ENSG00000082397:ENST00000400111:exon11:c.C1165G:p.L389V;	9.42844807584105E-4	0.048
18	5423551	G	T	18	5423552	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.C1165A:p.L389I;EPB41L3:NM_001281533:exon11:c.C1165A:p.L389I;EPB41L3:NM_001281535:exon13:c.C838A:p.L280I;EPB41L3:NM_012307:exon11:c.C1165A:p.L389I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.C1165A:p.L389I;ENSG00000082397:ENST00000341928:exon11:c.C1165A:p.L389I;ENSG00000082397:ENST00000544123:exon11:c.C1165A:p.L389I;ENSG00000082397:ENST00000584670:exon4:c.C136A:p.L46I;ENSG00000082397:ENST00000540638:exon11:c.C1165A:p.L389I;ENSG00000082397:ENST00000400111:exon11:c.C1165A:p.L389I;	0.00353259726121701	0.124
18	5423552	T	A	18	5423553	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.A1164T:p.R388S;EPB41L3:NM_001281533:exon11:c.A1164T:p.R388S;EPB41L3:NM_001281535:exon13:c.A837T:p.R279S;EPB41L3:NM_012307:exon11:c.A1164T:p.R388S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.A1164T:p.R388S;ENSG00000082397:ENST00000341928:exon11:c.A1164T:p.R388S;ENSG00000082397:ENST00000544123:exon11:c.A1164T:p.R388S;ENSG00000082397:ENST00000584670:exon4:c.A135T:p.R45S;ENSG00000082397:ENST00000540638:exon11:c.A1164T:p.R388S;ENSG00000082397:ENST00000400111:exon11:c.A1164T:p.R388S;	0.621426912675244	0.604
18	5423552	T	C	18	5423553	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon11:c.A1164G:p.R388R;EPB41L3:NM_001281533:exon11:c.A1164G:p.R388R;EPB41L3:NM_001281535:exon13:c.A837G:p.R279R;EPB41L3:NM_012307:exon11:c.A1164G:p.R388R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.A1164G:p.R388R;ENSG00000082397:ENST00000341928:exon11:c.A1164G:p.R388R;ENSG00000082397:ENST00000544123:exon11:c.A1164G:p.R388R;ENSG00000082397:ENST00000584670:exon4:c.A135G:p.R45R;ENSG00000082397:ENST00000540638:exon11:c.A1164G:p.R388R;ENSG00000082397:ENST00000400111:exon11:c.A1164G:p.R388R;	0.00133950129093498	0.008
18	5423552	T	G	18	5423553	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon11:c.A1164C:p.R388S;EPB41L3:NM_001281533:exon11:c.A1164C:p.R388S;EPB41L3:NM_001281535:exon13:c.A837C:p.R279S;EPB41L3:NM_012307:exon11:c.A1164C:p.R388S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon11:c.A1164C:p.R388S;ENSG00000082397:ENST00000341928:exon11:c.A1164C:p.R388S;ENSG00000082397:ENST00000544123:exon11:c.A1164C:p.R388S;ENSG00000082397:ENST00000584670:exon4:c.A135C:p.R45S;ENSG00000082397:ENST00000540638:exon11:c.A1164C:p.R388S;ENSG00000082397:ENST00000400111:exon11:c.A1164C:p.R388S;	0.627824216129723	0.706
18	5423553	C	A	18	5423554	y	y	splicing	EPB41L3(NM_001281535:exon14:c.837-1G>T;NM_001281533:exon12:c.1164-1G>T;NM_012307:exon12:c.1164-1G>T;NM_001281534:exon12:c.1164-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1164-1G>T;ENST00000544123:exon12:c.1164-1G>T;ENST00000540638:exon12:c.1164-1G>T;ENST00000400111:exon12:c.1164-1G>T;ENST00000342933:exon12:c.1164-1G>T;ENST00000584670:exon5:c.135-1G>T)	.	.	0.999990361384395	0.938
18	5423553	C	G	18	5423554	y	y	splicing	EPB41L3(NM_001281535:exon14:c.837-1G>C;NM_001281533:exon12:c.1164-1G>C;NM_012307:exon12:c.1164-1G>C;NM_001281534:exon12:c.1164-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1164-1G>C;ENST00000544123:exon12:c.1164-1G>C;ENST00000540638:exon12:c.1164-1G>C;ENST00000400111:exon12:c.1164-1G>C;ENST00000342933:exon12:c.1164-1G>C;ENST00000584670:exon5:c.135-1G>C)	.	.	0.999982737877662	0.938
18	5423553	C	T	18	5423554	y	y	splicing	EPB41L3(NM_001281535:exon14:c.837-1G>A;NM_001281533:exon12:c.1164-1G>A;NM_012307:exon12:c.1164-1G>A;NM_001281534:exon12:c.1164-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1164-1G>A;ENST00000544123:exon12:c.1164-1G>A;ENST00000540638:exon12:c.1164-1G>A;ENST00000400111:exon12:c.1164-1G>A;ENST00000342933:exon12:c.1164-1G>A;ENST00000584670:exon5:c.135-1G>A)	.	.	0.999990361384395	0.938
18	5423554	T	A	18	5423555	y	y	splicing	EPB41L3(NM_001281535:exon14:c.837-2A>T;NM_001281533:exon12:c.1164-2A>T;NM_012307:exon12:c.1164-2A>T;NM_001281534:exon12:c.1164-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1164-2A>T;ENST00000544123:exon12:c.1164-2A>T;ENST00000540638:exon12:c.1164-2A>T;ENST00000400111:exon12:c.1164-2A>T;ENST00000342933:exon12:c.1164-2A>T;ENST00000584670:exon5:c.135-2A>T)	.	.	0.99994568797423	0.934
18	5423554	T	C	18	5423555	y	y	splicing	EPB41L3(NM_001281535:exon14:c.837-2A>G;NM_001281533:exon12:c.1164-2A>G;NM_012307:exon12:c.1164-2A>G;NM_001281534:exon12:c.1164-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1164-2A>G;ENST00000544123:exon12:c.1164-2A>G;ENST00000540638:exon12:c.1164-2A>G;ENST00000400111:exon12:c.1164-2A>G;ENST00000342933:exon12:c.1164-2A>G;ENST00000584670:exon5:c.135-2A>G)	.	.	0.99994568797423	0.944
18	5423554	T	G	18	5423555	y	y	splicing	EPB41L3(NM_001281535:exon14:c.837-2A>C;NM_001281533:exon12:c.1164-2A>C;NM_012307:exon12:c.1164-2A>C;NM_001281534:exon12:c.1164-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon12:c.1164-2A>C;ENST00000544123:exon12:c.1164-2A>C;ENST00000540638:exon12:c.1164-2A>C;ENST00000400111:exon12:c.1164-2A>C;ENST00000342933:exon12:c.1164-2A>C;ENST00000584670:exon5:c.135-2A>C)	.	.	0.99994568797423	0.94
18	5423555	A	C	18	5423556	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99846689458175	0.746
18	5423555	A	G	18	5423556	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.65236318545612E-4	0.014
18	5423555	A	T	18	5423556	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.110347930127629	0.25
18	5423556	A	C	18	5423557	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.83063522924023E-5	0.0
18	5423556	A	G	18	5423557	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.25748696078426E-5	0.004
18	5423556	A	T	18	5423557	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.56735229157961E-5	0.0
18	5423557	A	C	18	5423558	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.09605117551269E-4	0.186
18	5423557	A	G	18	5423558	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.55452187847352E-5	0.006
18	5423557	A	T	18	5423558	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.30933761522461E-4	0.176
18	5423558	G	A	18	5423559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.12747150639822E-5	0.004
18	5423558	G	C	18	5423559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.3418472579027E-4	0.084
18	5423558	G	T	18	5423559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.2763110249942E-4	0.04
18	5423559	A	C	18	5423560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.85153482400111E-5	0.01
18	5423559	A	G	18	5423560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.73690608607804E-5	0.0
18	5423559	A	T	18	5423560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.46623570246122E-5	0.012
18	5423560	G	A	18	5423561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.03610279913297E-5	0.014
18	5423560	G	C	18	5423561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.8261808806241E-5	0.026
18	5423560	G	T	18	5423561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.42433733020823E-4	0.034
18	5423561	A	C	18	5423562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.64163754279543E-4	0.132
18	5423561	A	G	18	5423562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.61052373000344E-4	0.012
18	5423561	A	T	18	5423562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00102586796480905	0.126
18	5423562	A	C	18	5423563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.989106072331444	0.928
18	5423562	A	G	18	5423563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.48454648613441E-5	0.004
18	5423562	A	T	18	5423563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.81696379110439E-5	0.024
18	5423563	T	A	18	5423564	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.13954245281748E-5	0.052
18	5423563	T	C	18	5423564	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.84805206498902E-5	0.008
18	5423563	T	G	18	5423564	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.8116263075874E-5	0.0
18	5423564	A	C	18	5423565	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.96962245916243E-5	0.088
18	5423564	A	G	18	5423565	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.06022163463151E-5	0.002
18	5423564	A	T	18	5423565	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.55308989797183E-5	0.084
18	5424253	C	A	18	5424254	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.78416112795009E-5	0.0
18	5424253	C	G	18	5424254	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.78416112795009E-5	0.0
18	5424253	C	T	18	5424254	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.95145951409719E-5	0.0
18	5424254	T	A	18	5424255	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.47061588254038E-4	0.0
18	5424254	T	C	18	5424255	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.5251654895443E-4	0.006
18	5424254	T	G	18	5424255	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00103585601204114	0.002
18	5424255	T	A	18	5424256	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.86880123341153E-5	0.002
18	5424255	T	C	18	5424256	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.63249124051165E-5	0.0
18	5424255	T	G	18	5424256	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.37503380984263E-5	0.026
18	5424256	C	A	18	5424257	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999912745041628	0.864
18	5424256	C	G	18	5424257	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999923741341279	0.878
18	5424256	C	T	18	5424257	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99898415079715	0.562
18	5424257	C	A	18	5424258	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.36587364978692E-4	0.046
18	5424257	C	G	18	5424258	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.55242799367949E-4	0.114
18	5424257	C	T	18	5424258	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.17687930478361E-4	0.06
18	5424258	T	A	18	5424259	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995986957804849	0.86
18	5424258	T	C	18	5424259	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.865602603573847	0.746
18	5424258	T	G	18	5424259	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995340287535591	0.86
18	5424259	A	C	18	5424260	y	y	splicing	EPB41L3(NM_001281535:exon13:c.836+2T>G;NM_001281533:exon11:c.1163+2T>G;NM_012307:exon11:c.1163+2T>G;NM_001281534:exon11:c.1163+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1163+2T>G;ENST00000544123:exon11:c.1163+2T>G;ENST00000540638:exon11:c.1163+2T>G;ENST00000400111:exon11:c.1163+2T>G;ENST00000342933:exon11:c.1163+2T>G;ENST00000584670:exon4:c.134+2T>G)	.	.	0.999988247793601	0.928
18	5424259	A	G	18	5424260	y	y	splicing	EPB41L3(NM_001281535:exon13:c.836+2T>C;NM_001281533:exon11:c.1163+2T>C;NM_012307:exon11:c.1163+2T>C;NM_001281534:exon11:c.1163+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1163+2T>C;ENST00000544123:exon11:c.1163+2T>C;ENST00000540638:exon11:c.1163+2T>C;ENST00000400111:exon11:c.1163+2T>C;ENST00000342933:exon11:c.1163+2T>C;ENST00000584670:exon4:c.134+2T>C)	.	.	0.995201173614223	0.688
18	5424259	A	T	18	5424260	y	y	splicing	EPB41L3(NM_001281535:exon13:c.836+2T>A;NM_001281533:exon11:c.1163+2T>A;NM_012307:exon11:c.1163+2T>A;NM_001281534:exon11:c.1163+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1163+2T>A;ENST00000544123:exon11:c.1163+2T>A;ENST00000540638:exon11:c.1163+2T>A;ENST00000400111:exon11:c.1163+2T>A;ENST00000342933:exon11:c.1163+2T>A;ENST00000584670:exon4:c.134+2T>A)	.	.	0.999988247793601	0.928
18	5424260	C	A	18	5424261	y	y	splicing	EPB41L3(NM_001281535:exon13:c.836+1G>T;NM_001281533:exon11:c.1163+1G>T;NM_012307:exon11:c.1163+1G>T;NM_001281534:exon11:c.1163+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1163+1G>T;ENST00000544123:exon11:c.1163+1G>T;ENST00000540638:exon11:c.1163+1G>T;ENST00000400111:exon11:c.1163+1G>T;ENST00000342933:exon11:c.1163+1G>T;ENST00000584670:exon4:c.134+1G>T)	.	.	0.999990361384395	0.938
18	5424260	C	G	18	5424261	y	y	splicing	EPB41L3(NM_001281535:exon13:c.836+1G>C;NM_001281533:exon11:c.1163+1G>C;NM_012307:exon11:c.1163+1G>C;NM_001281534:exon11:c.1163+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1163+1G>C;ENST00000544123:exon11:c.1163+1G>C;ENST00000540638:exon11:c.1163+1G>C;ENST00000400111:exon11:c.1163+1G>C;ENST00000342933:exon11:c.1163+1G>C;ENST00000584670:exon4:c.134+1G>C)	.	.	0.999990361384395	0.938
18	5424260	C	T	18	5424261	y	y	splicing	EPB41L3(NM_001281535:exon13:c.836+1G>A;NM_001281533:exon11:c.1163+1G>A;NM_012307:exon11:c.1163+1G>A;NM_001281534:exon11:c.1163+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1163+1G>A;ENST00000544123:exon11:c.1163+1G>A;ENST00000540638:exon11:c.1163+1G>A;ENST00000400111:exon11:c.1163+1G>A;ENST00000342933:exon11:c.1163+1G>A;ENST00000584670:exon4:c.134+1G>A)	.	.	0.999990361384395	0.938
18	5424261	C	A	18	5424262	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.G1163T:p.R388I;EPB41L3:NM_001281533:exon10:c.G1163T:p.R388I;EPB41L3:NM_001281535:exon12:c.G836T:p.R279I;EPB41L3:NM_012307:exon10:c.G1163T:p.R388I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.G1163T:p.R388I;ENSG00000082397:ENST00000341928:exon10:c.G1163T:p.R388I;ENSG00000082397:ENST00000544123:exon10:c.G1163T:p.R388I;ENSG00000082397:ENST00000584670:exon3:c.G134T:p.R45I;ENSG00000082397:ENST00000540638:exon10:c.G1163T:p.R388I;ENSG00000082397:ENST00000400111:exon10:c.G1163T:p.R388I;	0.999991239447877	1.0
18	5424261	C	G	18	5424262	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.G1163C:p.R388T;EPB41L3:NM_001281533:exon10:c.G1163C:p.R388T;EPB41L3:NM_001281535:exon12:c.G836C:p.R279T;EPB41L3:NM_012307:exon10:c.G1163C:p.R388T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.G1163C:p.R388T;ENSG00000082397:ENST00000341928:exon10:c.G1163C:p.R388T;ENSG00000082397:ENST00000544123:exon10:c.G1163C:p.R388T;ENSG00000082397:ENST00000584670:exon3:c.G134C:p.R45T;ENSG00000082397:ENST00000540638:exon10:c.G1163C:p.R388T;ENSG00000082397:ENST00000400111:exon10:c.G1163C:p.R388T;	0.999997387511283	0.994
18	5424261	C	T	18	5424262	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.G1163A:p.R388K;EPB41L3:NM_001281533:exon10:c.G1163A:p.R388K;EPB41L3:NM_001281535:exon12:c.G836A:p.R279K;EPB41L3:NM_012307:exon10:c.G1163A:p.R388K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.G1163A:p.R388K;ENSG00000082397:ENST00000341928:exon10:c.G1163A:p.R388K;ENSG00000082397:ENST00000544123:exon10:c.G1163A:p.R388K;ENSG00000082397:ENST00000584670:exon3:c.G134A:p.R45K;ENSG00000082397:ENST00000540638:exon10:c.G1163A:p.R388K;ENSG00000082397:ENST00000400111:exon10:c.G1163A:p.R388K;	0.99998598238935	1.0
18	5424262	T	A	18	5424263	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon10:c.A1162T:p.R388X;EPB41L3:NM_001281533:exon10:c.A1162T:p.R388X;EPB41L3:NM_001281535:exon12:c.A835T:p.R279X;EPB41L3:NM_012307:exon10:c.A1162T:p.R388X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon10:c.A1162T:p.R388X;ENSG00000082397:ENST00000341928:exon10:c.A1162T:p.R388X;ENSG00000082397:ENST00000544123:exon10:c.A1162T:p.R388X;ENSG00000082397:ENST00000584670:exon3:c.A133T:p.R45X;ENSG00000082397:ENST00000540638:exon10:c.A1162T:p.R388X;ENSG00000082397:ENST00000400111:exon10:c.A1162T:p.R388X;	0.998877349523334	0.862
18	5424262	T	C	18	5424263	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.A1162G:p.R388G;EPB41L3:NM_001281533:exon10:c.A1162G:p.R388G;EPB41L3:NM_001281535:exon12:c.A835G:p.R279G;EPB41L3:NM_012307:exon10:c.A1162G:p.R388G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.A1162G:p.R388G;ENSG00000082397:ENST00000341928:exon10:c.A1162G:p.R388G;ENSG00000082397:ENST00000544123:exon10:c.A1162G:p.R388G;ENSG00000082397:ENST00000584670:exon3:c.A133G:p.R45G;ENSG00000082397:ENST00000540638:exon10:c.A1162G:p.R388G;ENSG00000082397:ENST00000400111:exon10:c.A1162G:p.R388G;	0.996088828034313	0.766
18	5424262	T	G	18	5424263	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon10:c.A1162C:p.R388R;EPB41L3:NM_001281533:exon10:c.A1162C:p.R388R;EPB41L3:NM_001281535:exon12:c.A835C:p.R279R;EPB41L3:NM_012307:exon10:c.A1162C:p.R388R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.A1162C:p.R388R;ENSG00000082397:ENST00000341928:exon10:c.A1162C:p.R388R;ENSG00000082397:ENST00000544123:exon10:c.A1162C:p.R388R;ENSG00000082397:ENST00000584670:exon3:c.A133C:p.R45R;ENSG00000082397:ENST00000540638:exon10:c.A1162C:p.R388R;ENSG00000082397:ENST00000400111:exon10:c.A1162C:p.R388R;	0.97742903452335	0.77
18	5424263	G	A	18	5424264	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon10:c.C1161T:p.F387F;EPB41L3:NM_001281533:exon10:c.C1161T:p.F387F;EPB41L3:NM_001281535:exon12:c.C834T:p.F278F;EPB41L3:NM_012307:exon10:c.C1161T:p.F387F;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.C1161T:p.F387F;ENSG00000082397:ENST00000341928:exon10:c.C1161T:p.F387F;ENSG00000082397:ENST00000544123:exon10:c.C1161T:p.F387F;ENSG00000082397:ENST00000584670:exon3:c.C132T:p.F44F;ENSG00000082397:ENST00000540638:exon10:c.C1161T:p.F387F;ENSG00000082397:ENST00000400111:exon10:c.C1161T:p.F387F;	0.999512113865307	0.914
18	5424263	G	C	18	5424264	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.C1161G:p.F387L;EPB41L3:NM_001281533:exon10:c.C1161G:p.F387L;EPB41L3:NM_001281535:exon12:c.C834G:p.F278L;EPB41L3:NM_012307:exon10:c.C1161G:p.F387L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.C1161G:p.F387L;ENSG00000082397:ENST00000341928:exon10:c.C1161G:p.F387L;ENSG00000082397:ENST00000544123:exon10:c.C1161G:p.F387L;ENSG00000082397:ENST00000584670:exon3:c.C132G:p.F44L;ENSG00000082397:ENST00000540638:exon10:c.C1161G:p.F387L;ENSG00000082397:ENST00000400111:exon10:c.C1161G:p.F387L;	0.933194020242139	0.626
18	5424263	G	T	18	5424264	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.C1161A:p.F387L;EPB41L3:NM_001281533:exon10:c.C1161A:p.F387L;EPB41L3:NM_001281535:exon12:c.C834A:p.F278L;EPB41L3:NM_012307:exon10:c.C1161A:p.F387L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.C1161A:p.F387L;ENSG00000082397:ENST00000341928:exon10:c.C1161A:p.F387L;ENSG00000082397:ENST00000544123:exon10:c.C1161A:p.F387L;ENSG00000082397:ENST00000584670:exon3:c.C132A:p.F44L;ENSG00000082397:ENST00000540638:exon10:c.C1161A:p.F387L;ENSG00000082397:ENST00000400111:exon10:c.C1161A:p.F387L;	0.940414222669096	0.838
18	5424357	A	C	18	5424358	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.T1067G:p.F356C;EPB41L3:NM_001281533:exon10:c.T1067G:p.F356C;EPB41L3:NM_001281535:exon12:c.T740G:p.F247C;EPB41L3:NM_012307:exon10:c.T1067G:p.F356C;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.T1067G:p.F356C;ENSG00000082397:ENST00000341928:exon10:c.T1067G:p.F356C;ENSG00000082397:ENST00000544123:exon10:c.T1067G:p.F356C;ENSG00000082397:ENST00000584670:exon3:c.T38G:p.F13C;ENSG00000082397:ENST00000540638:exon10:c.T1067G:p.F356C;ENSG00000082397:ENST00000400111:exon10:c.T1067G:p.F356C;	0.483273714053563	0.656
18	5424357	A	G	18	5424358	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.T1067C:p.F356S;EPB41L3:NM_001281533:exon10:c.T1067C:p.F356S;EPB41L3:NM_001281535:exon12:c.T740C:p.F247S;EPB41L3:NM_012307:exon10:c.T1067C:p.F356S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.T1067C:p.F356S;ENSG00000082397:ENST00000341928:exon10:c.T1067C:p.F356S;ENSG00000082397:ENST00000544123:exon10:c.T1067C:p.F356S;ENSG00000082397:ENST00000584670:exon3:c.T38C:p.F13S;ENSG00000082397:ENST00000540638:exon10:c.T1067C:p.F356S;ENSG00000082397:ENST00000400111:exon10:c.T1067C:p.F356S;	0.468852092229286	0.652
18	5424357	A	T	18	5424358	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.T1067A:p.F356Y;EPB41L3:NM_001281533:exon10:c.T1067A:p.F356Y;EPB41L3:NM_001281535:exon12:c.T740A:p.F247Y;EPB41L3:NM_012307:exon10:c.T1067A:p.F356Y;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.T1067A:p.F356Y;ENSG00000082397:ENST00000341928:exon10:c.T1067A:p.F356Y;ENSG00000082397:ENST00000544123:exon10:c.T1067A:p.F356Y;ENSG00000082397:ENST00000584670:exon3:c.T38A:p.F13Y;ENSG00000082397:ENST00000540638:exon10:c.T1067A:p.F356Y;ENSG00000082397:ENST00000400111:exon10:c.T1067A:p.F356Y;	0.032759402306345	0.21
18	5424358	A	C	18	5424359	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.T1066G:p.F356V;EPB41L3:NM_001281533:exon10:c.T1066G:p.F356V;EPB41L3:NM_001281535:exon12:c.T739G:p.F247V;EPB41L3:NM_012307:exon10:c.T1066G:p.F356V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.T1066G:p.F356V;ENSG00000082397:ENST00000341928:exon10:c.T1066G:p.F356V;ENSG00000082397:ENST00000544123:exon10:c.T1066G:p.F356V;ENSG00000082397:ENST00000584670:exon3:c.T37G:p.F13V;ENSG00000082397:ENST00000540638:exon10:c.T1066G:p.F356V;ENSG00000082397:ENST00000400111:exon10:c.T1066G:p.F356V;	0.818880544242235	0.698
18	5424358	A	G	18	5424359	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.T1066C:p.F356L;EPB41L3:NM_001281533:exon10:c.T1066C:p.F356L;EPB41L3:NM_001281535:exon12:c.T739C:p.F247L;EPB41L3:NM_012307:exon10:c.T1066C:p.F356L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.T1066C:p.F356L;ENSG00000082397:ENST00000341928:exon10:c.T1066C:p.F356L;ENSG00000082397:ENST00000544123:exon10:c.T1066C:p.F356L;ENSG00000082397:ENST00000584670:exon3:c.T37C:p.F13L;ENSG00000082397:ENST00000540638:exon10:c.T1066C:p.F356L;ENSG00000082397:ENST00000400111:exon10:c.T1066C:p.F356L;	0.0289309521790486	0.04
18	5424358	A	T	18	5424359	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon10:c.T1066A:p.F356I;EPB41L3:NM_001281533:exon10:c.T1066A:p.F356I;EPB41L3:NM_001281535:exon12:c.T739A:p.F247I;EPB41L3:NM_012307:exon10:c.T1066A:p.F356I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon10:c.T1066A:p.F356I;ENSG00000082397:ENST00000341928:exon10:c.T1066A:p.F356I;ENSG00000082397:ENST00000544123:exon10:c.T1066A:p.F356I;ENSG00000082397:ENST00000584670:exon3:c.T37A:p.F13I;ENSG00000082397:ENST00000540638:exon10:c.T1066A:p.F356I;ENSG00000082397:ENST00000400111:exon10:c.T1066A:p.F356I;	0.74702229933833	0.772
18	5424359	C	A	18	5424360	y	y	splicing	EPB41L3(NM_001281535:exon13:c.739-1G>T;NM_001281533:exon11:c.1066-1G>T;NM_012307:exon11:c.1066-1G>T;NM_001281534:exon11:c.1066-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1066-1G>T;ENST00000544123:exon11:c.1066-1G>T;ENST00000540638:exon11:c.1066-1G>T;ENST00000400111:exon11:c.1066-1G>T;ENST00000342933:exon11:c.1066-1G>T;ENST00000584670:exon4:c.37-1G>T)	.	.	0.999990361384395	0.938
18	5424359	C	G	18	5424360	y	y	splicing	EPB41L3(NM_001281535:exon13:c.739-1G>C;NM_001281533:exon11:c.1066-1G>C;NM_012307:exon11:c.1066-1G>C;NM_001281534:exon11:c.1066-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1066-1G>C;ENST00000544123:exon11:c.1066-1G>C;ENST00000540638:exon11:c.1066-1G>C;ENST00000400111:exon11:c.1066-1G>C;ENST00000342933:exon11:c.1066-1G>C;ENST00000584670:exon4:c.37-1G>C)	.	.	0.999990361384395	0.938
18	5424359	C	T	18	5424360	y	y	splicing	EPB41L3(NM_001281535:exon13:c.739-1G>A;NM_001281533:exon11:c.1066-1G>A;NM_012307:exon11:c.1066-1G>A;NM_001281534:exon11:c.1066-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1066-1G>A;ENST00000544123:exon11:c.1066-1G>A;ENST00000540638:exon11:c.1066-1G>A;ENST00000400111:exon11:c.1066-1G>A;ENST00000342933:exon11:c.1066-1G>A;ENST00000584670:exon4:c.37-1G>A)	.	.	0.999990361384395	0.938
18	5424360	T	A	18	5424361	y	y	splicing	EPB41L3(NM_001281535:exon13:c.739-2A>T;NM_001281533:exon11:c.1066-2A>T;NM_012307:exon11:c.1066-2A>T;NM_001281534:exon11:c.1066-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1066-2A>T;ENST00000544123:exon11:c.1066-2A>T;ENST00000540638:exon11:c.1066-2A>T;ENST00000400111:exon11:c.1066-2A>T;ENST00000342933:exon11:c.1066-2A>T;ENST00000584670:exon4:c.37-2A>T)	.	.	0.999988247793601	0.93
18	5424360	T	C	18	5424361	y	y	splicing	EPB41L3(NM_001281535:exon13:c.739-2A>G;NM_001281533:exon11:c.1066-2A>G;NM_012307:exon11:c.1066-2A>G;NM_001281534:exon11:c.1066-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1066-2A>G;ENST00000544123:exon11:c.1066-2A>G;ENST00000540638:exon11:c.1066-2A>G;ENST00000400111:exon11:c.1066-2A>G;ENST00000342933:exon11:c.1066-2A>G;ENST00000584670:exon4:c.37-2A>G)	.	.	0.999988247793601	0.93
18	5424360	T	G	18	5424361	y	y	splicing	EPB41L3(NM_001281535:exon13:c.739-2A>C;NM_001281533:exon11:c.1066-2A>C;NM_012307:exon11:c.1066-2A>C;NM_001281534:exon11:c.1066-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon11:c.1066-2A>C;ENST00000544123:exon11:c.1066-2A>C;ENST00000540638:exon11:c.1066-2A>C;ENST00000400111:exon11:c.1066-2A>C;ENST00000342933:exon11:c.1066-2A>C;ENST00000584670:exon4:c.37-2A>C)	.	.	0.999988247793601	0.93
18	5424361	A	C	18	5424362	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999757113019268	0.874
18	5424361	A	G	18	5424362	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.35798788964431E-4	0.012
18	5424361	A	T	18	5424362	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.161934360892012	0.316
18	5424362	A	C	18	5424363	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00160362894378624	0.048
18	5424362	A	G	18	5424363	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.78200150257115E-5	0.002
18	5424362	A	T	18	5424363	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.91442413767074E-4	0.02
18	5424363	A	C	18	5424364	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999980617270385	0.944
18	5424363	A	G	18	5424364	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0174843634570853	0.186
18	5424363	A	T	18	5424364	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.19844047151281	0.394
18	5424364	T	A	18	5424365	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.30839775864544E-5	0.002
18	5424364	T	C	18	5424365	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.10493007208283E-5	0.004
18	5424364	T	G	18	5424365	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.55456586763573E-5	0.0
18	5424365	A	C	18	5424366	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.77487599756611E-4	0.026
18	5424365	A	G	18	5424366	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.7383121039418E-5	0.004
18	5424365	A	T	18	5424366	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.89458000115021E-4	0.004
18	5424366	A	C	18	5424367	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.77140920597896E-5	0.05
18	5424366	A	G	18	5424367	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.75344580932068E-6	0.006
18	5424366	A	T	18	5424367	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.05213333407337E-5	0.038
18	5424367	A	C	18	5424368	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00196646516156422	0.118
18	5424367	A	G	18	5424368	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.65056171081512E-4	0.05
18	5424367	A	T	18	5424368	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00144242368985679	0.112
18	5424368	A	C	18	5424369	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.43808969032058E-4	0.062
18	5424368	A	G	18	5424369	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.78032743207397E-5	0.014
18	5424368	A	T	18	5424369	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.44243980790184E-4	0.036
18	5424369	A	C	18	5424370	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.110356376456132	0.53
18	5424369	A	G	18	5424370	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0973339287569389	0.462
18	5424369	A	T	18	5424370	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.268539448231602	0.602
18	5424370	A	C	18	5424371	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00261416525170445	0.096
18	5424370	A	G	18	5424371	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00287654803703977	0.07
18	5424370	A	T	18	5424371	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0205104273076943	0.09
18	5428304	A	C	18	5428305	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.56864328490633E-5	0.002
18	5428304	A	G	18	5428305	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93008933363103E-5	0.002
18	5428304	A	T	18	5428305	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.56864328490633E-5	0.004
18	5428305	T	A	18	5428306	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.64726965068443E-5	0.0
18	5428305	T	C	18	5428306	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.21441922682638E-5	0.004
18	5428305	T	G	18	5428306	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.64726965068443E-5	0.006
18	5428306	A	C	18	5428307	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.70082322917866E-4	0.086
18	5428306	A	G	18	5428307	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00177175034085371	0.116
18	5428306	A	T	18	5428307	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00136508879806278	0.128
18	5428307	C	A	18	5428308	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.688669873309706	0.53
18	5428307	C	G	18	5428308	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.838065970422975	0.55
18	5428307	C	T	18	5428308	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.605283820204501	0.62
18	5428308	T	A	18	5428309	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.113889458444955	0.388
18	5428308	T	C	18	5428309	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.229777623015581	0.338
18	5428308	T	G	18	5428309	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.221503591485623	0.352
18	5428309	T	A	18	5428310	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.71476975849292	0.598
18	5428309	T	C	18	5428310	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0451248664607362	0.236
18	5428309	T	G	18	5428310	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.971473892203854	0.676
18	5428310	A	C	18	5428311	y	y	splicing	EPB41L3(NM_001281535:exon12:c.738+2T>G;NM_001281533:exon10:c.1065+2T>G;NM_012307:exon10:c.1065+2T>G;NM_001281534:exon10:c.1065+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.1065+2T>G;ENST00000544123:exon10:c.1065+2T>G;ENST00000540638:exon10:c.1065+2T>G;ENST00000400111:exon10:c.1065+2T>G;ENST00000342933:exon10:c.1065+2T>G)	.	.	0.999988247793601	0.928
18	5428310	A	G	18	5428311	y	y	splicing	EPB41L3(NM_001281535:exon12:c.738+2T>C;NM_001281533:exon10:c.1065+2T>C;NM_012307:exon10:c.1065+2T>C;NM_001281534:exon10:c.1065+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.1065+2T>C;ENST00000544123:exon10:c.1065+2T>C;ENST00000540638:exon10:c.1065+2T>C;ENST00000400111:exon10:c.1065+2T>C;ENST00000342933:exon10:c.1065+2T>C)	.	.	0.992783534660112	0.66
18	5428310	A	T	18	5428311	y	y	splicing	EPB41L3(NM_001281535:exon12:c.738+2T>A;NM_001281533:exon10:c.1065+2T>A;NM_012307:exon10:c.1065+2T>A;NM_001281534:exon10:c.1065+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.1065+2T>A;ENST00000544123:exon10:c.1065+2T>A;ENST00000540638:exon10:c.1065+2T>A;ENST00000400111:exon10:c.1065+2T>A;ENST00000342933:exon10:c.1065+2T>A)	.	.	0.999988247793601	0.928
18	5428311	C	A	18	5428312	y	y	splicing	EPB41L3(NM_001281535:exon12:c.738+1G>T;NM_001281533:exon10:c.1065+1G>T;NM_012307:exon10:c.1065+1G>T;NM_001281534:exon10:c.1065+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.1065+1G>T;ENST00000544123:exon10:c.1065+1G>T;ENST00000540638:exon10:c.1065+1G>T;ENST00000400111:exon10:c.1065+1G>T;ENST00000342933:exon10:c.1065+1G>T)	.	.	0.999985532734767	0.936
18	5428311	C	G	18	5428312	y	y	splicing	EPB41L3(NM_001281535:exon12:c.738+1G>C;NM_001281533:exon10:c.1065+1G>C;NM_012307:exon10:c.1065+1G>C;NM_001281534:exon10:c.1065+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.1065+1G>C;ENST00000544123:exon10:c.1065+1G>C;ENST00000540638:exon10:c.1065+1G>C;ENST00000400111:exon10:c.1065+1G>C;ENST00000342933:exon10:c.1065+1G>C)	.	.	0.999985532734767	0.936
18	5428311	C	T	18	5428312	y	y	splicing	EPB41L3(NM_001281535:exon12:c.738+1G>A;NM_001281533:exon10:c.1065+1G>A;NM_012307:exon10:c.1065+1G>A;NM_001281534:exon10:c.1065+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.1065+1G>A;ENST00000544123:exon10:c.1065+1G>A;ENST00000540638:exon10:c.1065+1G>A;ENST00000400111:exon10:c.1065+1G>A;ENST00000342933:exon10:c.1065+1G>A)	.	.	0.999985532734767	0.936
18	5428312	C	A	18	5428313	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.G1065T:p.E355D;EPB41L3:NM_001281533:exon9:c.G1065T:p.E355D;EPB41L3:NM_001281535:exon11:c.G738T:p.E246D;EPB41L3:NM_012307:exon9:c.G1065T:p.E355D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.G1065T:p.E355D;ENSG00000082397:ENST00000341928:exon9:c.G1065T:p.E355D;ENSG00000082397:ENST00000544123:exon9:c.G1065T:p.E355D;ENSG00000082397:ENST00000540638:exon9:c.G1065T:p.E355D;ENSG00000082397:ENST00000400111:exon9:c.G1065T:p.E355D;	0.998017849979844	0.902
18	5428312	C	G	18	5428313	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.G1065C:p.E355D;EPB41L3:NM_001281533:exon9:c.G1065C:p.E355D;EPB41L3:NM_001281535:exon11:c.G738C:p.E246D;EPB41L3:NM_012307:exon9:c.G1065C:p.E355D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.G1065C:p.E355D;ENSG00000082397:ENST00000341928:exon9:c.G1065C:p.E355D;ENSG00000082397:ENST00000544123:exon9:c.G1065C:p.E355D;ENSG00000082397:ENST00000540638:exon9:c.G1065C:p.E355D;ENSG00000082397:ENST00000400111:exon9:c.G1065C:p.E355D;	0.999477286909414	0.928
18	5428312	C	T	18	5428313	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon9:c.G1065A:p.E355E;EPB41L3:NM_001281533:exon9:c.G1065A:p.E355E;EPB41L3:NM_001281535:exon11:c.G738A:p.E246E;EPB41L3:NM_012307:exon9:c.G1065A:p.E355E;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.G1065A:p.E355E;ENSG00000082397:ENST00000341928:exon9:c.G1065A:p.E355E;ENSG00000082397:ENST00000544123:exon9:c.G1065A:p.E355E;ENSG00000082397:ENST00000540638:exon9:c.G1065A:p.E355E;ENSG00000082397:ENST00000400111:exon9:c.G1065A:p.E355E;	0.997991130609358	0.892
18	5428313	T	A	18	5428314	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.A1064T:p.E355V;EPB41L3:NM_001281533:exon9:c.A1064T:p.E355V;EPB41L3:NM_001281535:exon11:c.A737T:p.E246V;EPB41L3:NM_012307:exon9:c.A1064T:p.E355V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.A1064T:p.E355V;ENSG00000082397:ENST00000341928:exon9:c.A1064T:p.E355V;ENSG00000082397:ENST00000544123:exon9:c.A1064T:p.E355V;ENSG00000082397:ENST00000540638:exon9:c.A1064T:p.E355V;ENSG00000082397:ENST00000400111:exon9:c.A1064T:p.E355V;	0.988578931690188	0.588
18	5428313	T	C	18	5428314	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.A1064G:p.E355G;EPB41L3:NM_001281533:exon9:c.A1064G:p.E355G;EPB41L3:NM_001281535:exon11:c.A737G:p.E246G;EPB41L3:NM_012307:exon9:c.A1064G:p.E355G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.A1064G:p.E355G;ENSG00000082397:ENST00000341928:exon9:c.A1064G:p.E355G;ENSG00000082397:ENST00000544123:exon9:c.A1064G:p.E355G;ENSG00000082397:ENST00000540638:exon9:c.A1064G:p.E355G;ENSG00000082397:ENST00000400111:exon9:c.A1064G:p.E355G;	0.990884273142302	0.904
18	5428313	T	G	18	5428314	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.A1064C:p.E355A;EPB41L3:NM_001281533:exon9:c.A1064C:p.E355A;EPB41L3:NM_001281535:exon11:c.A737C:p.E246A;EPB41L3:NM_012307:exon9:c.A1064C:p.E355A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.A1064C:p.E355A;ENSG00000082397:ENST00000341928:exon9:c.A1064C:p.E355A;ENSG00000082397:ENST00000544123:exon9:c.A1064C:p.E355A;ENSG00000082397:ENST00000540638:exon9:c.A1064C:p.E355A;ENSG00000082397:ENST00000400111:exon9:c.A1064C:p.E355A;	0.984621198117688	0.712
18	5428314	C	A	18	5428315	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon9:c.G1063T:p.E355X;EPB41L3:NM_001281533:exon9:c.G1063T:p.E355X;EPB41L3:NM_001281535:exon11:c.G736T:p.E246X;EPB41L3:NM_012307:exon9:c.G1063T:p.E355X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon9:c.G1063T:p.E355X;ENSG00000082397:ENST00000341928:exon9:c.G1063T:p.E355X;ENSG00000082397:ENST00000544123:exon9:c.G1063T:p.E355X;ENSG00000082397:ENST00000540638:exon9:c.G1063T:p.E355X;ENSG00000082397:ENST00000400111:exon9:c.G1063T:p.E355X;	0.980807823023233	0.862
18	5428314	C	G	18	5428315	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.G1063C:p.E355Q;EPB41L3:NM_001281533:exon9:c.G1063C:p.E355Q;EPB41L3:NM_001281535:exon11:c.G736C:p.E246Q;EPB41L3:NM_012307:exon9:c.G1063C:p.E355Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.G1063C:p.E355Q;ENSG00000082397:ENST00000341928:exon9:c.G1063C:p.E355Q;ENSG00000082397:ENST00000544123:exon9:c.G1063C:p.E355Q;ENSG00000082397:ENST00000540638:exon9:c.G1063C:p.E355Q;ENSG00000082397:ENST00000400111:exon9:c.G1063C:p.E355Q;	0.95235982901339	0.788
18	5428314	C	T	18	5428315	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.G1063A:p.E355K;EPB41L3:NM_001281533:exon9:c.G1063A:p.E355K;EPB41L3:NM_001281535:exon11:c.G736A:p.E246K;EPB41L3:NM_012307:exon9:c.G1063A:p.E355K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.G1063A:p.E355K;ENSG00000082397:ENST00000341928:exon9:c.G1063A:p.E355K;ENSG00000082397:ENST00000544123:exon9:c.G1063A:p.E355K;ENSG00000082397:ENST00000540638:exon9:c.G1063A:p.E355K;ENSG00000082397:ENST00000400111:exon9:c.G1063A:p.E355K;	0.95235982901339	0.82
18	5428463	T	A	18	5428464	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.A914T:p.D305V;EPB41L3:NM_001281533:exon9:c.A914T:p.D305V;EPB41L3:NM_001281535:exon11:c.A587T:p.D196V;EPB41L3:NM_012307:exon9:c.A914T:p.D305V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.A914T:p.D305V;ENSG00000082397:ENST00000341928:exon9:c.A914T:p.D305V;ENSG00000082397:ENST00000544123:exon9:c.A914T:p.D305V;ENSG00000082397:ENST00000540638:exon9:c.A914T:p.D305V;ENSG00000082397:ENST00000400111:exon9:c.A914T:p.D305V;	0.576265511763484	0.778
18	5428463	T	C	18	5428464	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.A914G:p.D305G;EPB41L3:NM_001281533:exon9:c.A914G:p.D305G;EPB41L3:NM_001281535:exon11:c.A587G:p.D196G;EPB41L3:NM_012307:exon9:c.A914G:p.D305G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.A914G:p.D305G;ENSG00000082397:ENST00000341928:exon9:c.A914G:p.D305G;ENSG00000082397:ENST00000544123:exon9:c.A914G:p.D305G;ENSG00000082397:ENST00000540638:exon9:c.A914G:p.D305G;ENSG00000082397:ENST00000400111:exon9:c.A914G:p.D305G;	0.461333438465468	0.572
18	5428463	T	G	18	5428464	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.A914C:p.D305A;EPB41L3:NM_001281533:exon9:c.A914C:p.D305A;EPB41L3:NM_001281535:exon11:c.A587C:p.D196A;EPB41L3:NM_012307:exon9:c.A914C:p.D305A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.A914C:p.D305A;ENSG00000082397:ENST00000341928:exon9:c.A914C:p.D305A;ENSG00000082397:ENST00000544123:exon9:c.A914C:p.D305A;ENSG00000082397:ENST00000540638:exon9:c.A914C:p.D305A;ENSG00000082397:ENST00000400111:exon9:c.A914C:p.D305A;	0.590121251280694	0.742
18	5428464	C	A	18	5428465	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.G913T:p.D305Y;EPB41L3:NM_001281533:exon9:c.G913T:p.D305Y;EPB41L3:NM_001281535:exon11:c.G586T:p.D196Y;EPB41L3:NM_012307:exon9:c.G913T:p.D305Y;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.G913T:p.D305Y;ENSG00000082397:ENST00000341928:exon9:c.G913T:p.D305Y;ENSG00000082397:ENST00000544123:exon9:c.G913T:p.D305Y;ENSG00000082397:ENST00000540638:exon9:c.G913T:p.D305Y;ENSG00000082397:ENST00000400111:exon9:c.G913T:p.D305Y;	0.99216466194289	0.86
18	5428464	C	G	18	5428465	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.G913C:p.D305H;EPB41L3:NM_001281533:exon9:c.G913C:p.D305H;EPB41L3:NM_001281535:exon11:c.G586C:p.D196H;EPB41L3:NM_012307:exon9:c.G913C:p.D305H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.G913C:p.D305H;ENSG00000082397:ENST00000341928:exon9:c.G913C:p.D305H;ENSG00000082397:ENST00000544123:exon9:c.G913C:p.D305H;ENSG00000082397:ENST00000540638:exon9:c.G913C:p.D305H;ENSG00000082397:ENST00000400111:exon9:c.G913C:p.D305H;	0.997010605143581	0.916
18	5428464	C	T	18	5428465	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon9:c.G913A:p.D305N;EPB41L3:NM_001281533:exon9:c.G913A:p.D305N;EPB41L3:NM_001281535:exon11:c.G586A:p.D196N;EPB41L3:NM_012307:exon9:c.G913A:p.D305N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon9:c.G913A:p.D305N;ENSG00000082397:ENST00000341928:exon9:c.G913A:p.D305N;ENSG00000082397:ENST00000544123:exon9:c.G913A:p.D305N;ENSG00000082397:ENST00000540638:exon9:c.G913A:p.D305N;ENSG00000082397:ENST00000400111:exon9:c.G913A:p.D305N;	0.990327975472654	0.832
18	5428465	C	A	18	5428466	y	y	splicing	EPB41L3(NM_001281535:exon12:c.586-1G>T;NM_001281533:exon10:c.913-1G>T;NM_012307:exon10:c.913-1G>T;NM_001281534:exon10:c.913-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.913-1G>T;ENST00000544123:exon10:c.913-1G>T;ENST00000540638:exon10:c.913-1G>T;ENST00000400111:exon10:c.913-1G>T;ENST00000342933:exon10:c.913-1G>T)	.	.	0.999986675681007	0.936
18	5428465	C	G	18	5428466	y	y	splicing	EPB41L3(NM_001281535:exon12:c.586-1G>C;NM_001281533:exon10:c.913-1G>C;NM_012307:exon10:c.913-1G>C;NM_001281534:exon10:c.913-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.913-1G>C;ENST00000544123:exon10:c.913-1G>C;ENST00000540638:exon10:c.913-1G>C;ENST00000400111:exon10:c.913-1G>C;ENST00000342933:exon10:c.913-1G>C)	.	.	0.999986675681007	0.936
18	5428465	C	T	18	5428466	y	y	splicing	EPB41L3(NM_001281535:exon12:c.586-1G>A;NM_001281533:exon10:c.913-1G>A;NM_012307:exon10:c.913-1G>A;NM_001281534:exon10:c.913-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.913-1G>A;ENST00000544123:exon10:c.913-1G>A;ENST00000540638:exon10:c.913-1G>A;ENST00000400111:exon10:c.913-1G>A;ENST00000342933:exon10:c.913-1G>A)	.	.	0.999986675681007	0.936
18	5428466	T	A	18	5428467	y	y	splicing	EPB41L3(NM_001281535:exon12:c.586-2A>T;NM_001281533:exon10:c.913-2A>T;NM_012307:exon10:c.913-2A>T;NM_001281534:exon10:c.913-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.913-2A>T;ENST00000544123:exon10:c.913-2A>T;ENST00000540638:exon10:c.913-2A>T;ENST00000400111:exon10:c.913-2A>T;ENST00000342933:exon10:c.913-2A>T)	.	.	0.999989917668626	0.928
18	5428466	T	C	18	5428467	y	y	splicing	EPB41L3(NM_001281535:exon12:c.586-2A>G;NM_001281533:exon10:c.913-2A>G;NM_012307:exon10:c.913-2A>G;NM_001281534:exon10:c.913-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.913-2A>G;ENST00000544123:exon10:c.913-2A>G;ENST00000540638:exon10:c.913-2A>G;ENST00000400111:exon10:c.913-2A>G;ENST00000342933:exon10:c.913-2A>G)	.	.	0.999989917668626	0.926
18	5428466	T	G	18	5428467	y	y	splicing	EPB41L3(NM_001281535:exon12:c.586-2A>C;NM_001281533:exon10:c.913-2A>C;NM_012307:exon10:c.913-2A>C;NM_001281534:exon10:c.913-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon10:c.913-2A>C;ENST00000544123:exon10:c.913-2A>C;ENST00000540638:exon10:c.913-2A>C;ENST00000400111:exon10:c.913-2A>C;ENST00000342933:exon10:c.913-2A>C)	.	.	0.999989917668626	0.926
18	5428467	G	A	18	5428468	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0143980484630193	0.178
18	5428467	G	C	18	5428468	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.98995117051205	0.802
18	5428467	G	T	18	5428468	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.298092717904903	0.434
18	5428468	G	A	18	5428469	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.93063621424348E-4	0.036
18	5428468	G	C	18	5428469	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.38448130724719E-4	0.018
18	5428468	G	T	18	5428469	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.93063621424348E-4	0.026
18	5428469	A	C	18	5428470	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00445429144401871	0.29
18	5428469	A	G	18	5428470	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00134490767110574	0.046
18	5428469	A	T	18	5428470	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00119485569714978	0.194
18	5428470	A	C	18	5428471	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0197590927591725	0.136
18	5428470	A	G	18	5428471	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.09087312360821E-4	0.012
18	5428470	A	T	18	5428471	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0249887659702782	0.132
18	5428471	A	C	18	5428472	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00245507554465354	0.13
18	5428471	A	G	18	5428472	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00180088439934452	0.048
18	5428471	A	T	18	5428472	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00717264667181411	0.154
18	5428472	A	C	18	5428473	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998539575373885	0.896
18	5428472	A	G	18	5428473	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00369587667502021	0.08
18	5428472	A	T	18	5428473	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00386036277990394	0.102
18	5428473	T	A	18	5428474	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.04784331640444E-5	0.042
18	5428473	T	C	18	5428474	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.06365395461298E-4	0.022
18	5428473	T	G	18	5428474	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.03793506553459E-4	0.036
18	5428474	A	C	18	5428475	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0100141775429849	0.076
18	5428474	A	G	18	5428475	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00321195595753066	0.024
18	5428474	A	T	18	5428475	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0101832689128602	0.102
18	5428475	A	C	18	5428476	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.62377645336041E-4	0.154
18	5428475	A	G	18	5428476	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.15953818620756E-4	0.094
18	5428475	A	T	18	5428476	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0010934333441357	0.278
18	5428476	A	C	18	5428477	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.80910090598611E-4	0.036
18	5428476	A	G	18	5428477	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.07205639664693E-5	0.006
18	5428476	A	T	18	5428477	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.11819787751122E-4	0.064
18	5433460	A	C	18	5433461	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.2709332397549E-4	0.0
18	5433460	A	G	18	5433461	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.31090541603857E-5	0.0
18	5433460	A	T	18	5433461	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.45387536832266E-4	0.012
18	5433461	T	A	18	5433462	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.14197195822109E-4	0.03
18	5433461	T	C	18	5433462	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.41797402773577E-4	0.0
18	5433461	T	G	18	5433462	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.00330650606671E-4	0.0
18	5433462	G	A	18	5433463	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.90796772895177E-5	0.026
18	5433462	G	C	18	5433463	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.51666897973433E-5	0.024
18	5433462	G	T	18	5433463	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.66216102429162E-5	0.022
18	5433463	C	A	18	5433464	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998215059577948	0.738
18	5433463	C	G	18	5433464	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.960048831655302	0.548
18	5433463	C	T	18	5433464	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.892402495246336	0.494
18	5433464	A	C	18	5433465	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.05765772527877E-5	0.0
18	5433464	A	G	18	5433465	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.19303350401367E-5	0.0
18	5433464	A	T	18	5433465	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.07982792857819E-5	0.01
18	5433465	T	A	18	5433466	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99968640060754	0.966
18	5433465	T	C	18	5433466	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999618729374374	0.928
18	5433465	T	G	18	5433466	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999541648141503	0.964
18	5433466	A	C	18	5433467	y	y	splicing	EPB41L3(NM_001281535:exon11:c.585+2T>G;NM_001281533:exon9:c.912+2T>G;NM_012307:exon9:c.912+2T>G;NM_001281534:exon9:c.912+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.912+2T>G;ENST00000544123:exon9:c.912+2T>G;ENST00000540638:exon9:c.912+2T>G;ENST00000400111:exon9:c.912+2T>G;ENST00000342933:exon9:c.912+2T>G)	.	.	0.999988247793601	0.932
18	5433466	A	G	18	5433467	y	y	splicing	EPB41L3(NM_001281535:exon11:c.585+2T>C;NM_001281533:exon9:c.912+2T>C;NM_012307:exon9:c.912+2T>C;NM_001281534:exon9:c.912+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.912+2T>C;ENST00000544123:exon9:c.912+2T>C;ENST00000540638:exon9:c.912+2T>C;ENST00000400111:exon9:c.912+2T>C;ENST00000342933:exon9:c.912+2T>C)	.	.	0.99340600729494	0.688
18	5433466	A	T	18	5433467	y	y	splicing	EPB41L3(NM_001281535:exon11:c.585+2T>A;NM_001281533:exon9:c.912+2T>A;NM_012307:exon9:c.912+2T>A;NM_001281534:exon9:c.912+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.912+2T>A;ENST00000544123:exon9:c.912+2T>A;ENST00000540638:exon9:c.912+2T>A;ENST00000400111:exon9:c.912+2T>A;ENST00000342933:exon9:c.912+2T>A)	.	.	0.999988247793601	0.932
18	5433467	C	A	18	5433468	y	y	splicing	EPB41L3(NM_001281535:exon11:c.585+1G>T;NM_001281533:exon9:c.912+1G>T;NM_012307:exon9:c.912+1G>T;NM_001281534:exon9:c.912+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.912+1G>T;ENST00000544123:exon9:c.912+1G>T;ENST00000540638:exon9:c.912+1G>T;ENST00000400111:exon9:c.912+1G>T;ENST00000342933:exon9:c.912+1G>T)	.	.	0.999990361384395	0.938
18	5433467	C	G	18	5433468	y	y	splicing	EPB41L3(NM_001281535:exon11:c.585+1G>C;NM_001281533:exon9:c.912+1G>C;NM_012307:exon9:c.912+1G>C;NM_001281534:exon9:c.912+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.912+1G>C;ENST00000544123:exon9:c.912+1G>C;ENST00000540638:exon9:c.912+1G>C;ENST00000400111:exon9:c.912+1G>C;ENST00000342933:exon9:c.912+1G>C)	.	.	0.999990361384395	0.938
18	5433467	C	T	18	5433468	y	y	splicing	EPB41L3(NM_001281535:exon11:c.585+1G>A;NM_001281533:exon9:c.912+1G>A;NM_012307:exon9:c.912+1G>A;NM_001281534:exon9:c.912+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.912+1G>A;ENST00000544123:exon9:c.912+1G>A;ENST00000540638:exon9:c.912+1G>A;ENST00000400111:exon9:c.912+1G>A;ENST00000342933:exon9:c.912+1G>A)	.	.	0.999990361384395	0.938
18	5433468	C	A	18	5433469	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.G912T:p.K304N;EPB41L3:NM_001281533:exon8:c.G912T:p.K304N;EPB41L3:NM_001281535:exon10:c.G585T:p.K195N;EPB41L3:NM_012307:exon8:c.G912T:p.K304N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.G912T:p.K304N;ENSG00000082397:ENST00000341928:exon8:c.G912T:p.K304N;ENSG00000082397:ENST00000544123:exon8:c.G912T:p.K304N;ENSG00000082397:ENST00000540638:exon8:c.G912T:p.K304N;ENSG00000082397:ENST00000400111:exon8:c.G912T:p.K304N;	0.999972963356687	0.998
18	5433468	C	G	18	5433469	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.G912C:p.K304N;EPB41L3:NM_001281533:exon8:c.G912C:p.K304N;EPB41L3:NM_001281535:exon10:c.G585C:p.K195N;EPB41L3:NM_012307:exon8:c.G912C:p.K304N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.G912C:p.K304N;ENSG00000082397:ENST00000341928:exon8:c.G912C:p.K304N;ENSG00000082397:ENST00000544123:exon8:c.G912C:p.K304N;ENSG00000082397:ENST00000540638:exon8:c.G912C:p.K304N;ENSG00000082397:ENST00000400111:exon8:c.G912C:p.K304N;	0.99999721398396	1.0
18	5433468	C	T	18	5433469	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon8:c.G912A:p.K304K;EPB41L3:NM_001281533:exon8:c.G912A:p.K304K;EPB41L3:NM_001281535:exon10:c.G585A:p.K195K;EPB41L3:NM_012307:exon8:c.G912A:p.K304K;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.G912A:p.K304K;ENSG00000082397:ENST00000341928:exon8:c.G912A:p.K304K;ENSG00000082397:ENST00000544123:exon8:c.G912A:p.K304K;ENSG00000082397:ENST00000540638:exon8:c.G912A:p.K304K;ENSG00000082397:ENST00000400111:exon8:c.G912A:p.K304K;	0.999979377840368	0.99
18	5433469	T	A	18	5433470	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.A911T:p.K304M;EPB41L3:NM_001281533:exon8:c.A911T:p.K304M;EPB41L3:NM_001281535:exon10:c.A584T:p.K195M;EPB41L3:NM_012307:exon8:c.A911T:p.K304M;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.A911T:p.K304M;ENSG00000082397:ENST00000341928:exon8:c.A911T:p.K304M;ENSG00000082397:ENST00000544123:exon8:c.A911T:p.K304M;ENSG00000082397:ENST00000540638:exon8:c.A911T:p.K304M;ENSG00000082397:ENST00000400111:exon8:c.A911T:p.K304M;	0.999773730303546	0.978
18	5433469	T	C	18	5433470	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.A911G:p.K304R;EPB41L3:NM_001281533:exon8:c.A911G:p.K304R;EPB41L3:NM_001281535:exon10:c.A584G:p.K195R;EPB41L3:NM_012307:exon8:c.A911G:p.K304R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.A911G:p.K304R;ENSG00000082397:ENST00000341928:exon8:c.A911G:p.K304R;ENSG00000082397:ENST00000544123:exon8:c.A911G:p.K304R;ENSG00000082397:ENST00000540638:exon8:c.A911G:p.K304R;ENSG00000082397:ENST00000400111:exon8:c.A911G:p.K304R;	0.999847699612564	1.0
18	5433469	T	G	18	5433470	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.A911C:p.K304T;EPB41L3:NM_001281533:exon8:c.A911C:p.K304T;EPB41L3:NM_001281535:exon10:c.A584C:p.K195T;EPB41L3:NM_012307:exon8:c.A911C:p.K304T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.A911C:p.K304T;ENSG00000082397:ENST00000341928:exon8:c.A911C:p.K304T;ENSG00000082397:ENST00000544123:exon8:c.A911C:p.K304T;ENSG00000082397:ENST00000540638:exon8:c.A911C:p.K304T;ENSG00000082397:ENST00000400111:exon8:c.A911C:p.K304T;	0.998596318311469	0.922
18	5433470	T	A	18	5433471	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon8:c.A910T:p.K304X;EPB41L3:NM_001281533:exon8:c.A910T:p.K304X;EPB41L3:NM_001281535:exon10:c.A583T:p.K195X;EPB41L3:NM_012307:exon8:c.A910T:p.K304X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon8:c.A910T:p.K304X;ENSG00000082397:ENST00000341928:exon8:c.A910T:p.K304X;ENSG00000082397:ENST00000544123:exon8:c.A910T:p.K304X;ENSG00000082397:ENST00000540638:exon8:c.A910T:p.K304X;ENSG00000082397:ENST00000400111:exon8:c.A910T:p.K304X;	0.967618419146373	0.77
18	5433470	T	C	18	5433471	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.A910G:p.K304E;EPB41L3:NM_001281533:exon8:c.A910G:p.K304E;EPB41L3:NM_001281535:exon10:c.A583G:p.K195E;EPB41L3:NM_012307:exon8:c.A910G:p.K304E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.A910G:p.K304E;ENSG00000082397:ENST00000341928:exon8:c.A910G:p.K304E;ENSG00000082397:ENST00000544123:exon8:c.A910G:p.K304E;ENSG00000082397:ENST00000540638:exon8:c.A910G:p.K304E;ENSG00000082397:ENST00000400111:exon8:c.A910G:p.K304E;	0.326923065198919	0.482
18	5433470	T	G	18	5433471	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.A910C:p.K304Q;EPB41L3:NM_001281533:exon8:c.A910C:p.K304Q;EPB41L3:NM_001281535:exon10:c.A583C:p.K195Q;EPB41L3:NM_012307:exon8:c.A910C:p.K304Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.A910C:p.K304Q;ENSG00000082397:ENST00000341928:exon8:c.A910C:p.K304Q;ENSG00000082397:ENST00000544123:exon8:c.A910C:p.K304Q;ENSG00000082397:ENST00000540638:exon8:c.A910C:p.K304Q;ENSG00000082397:ENST00000400111:exon8:c.A910C:p.K304Q;	0.743767621241911	0.578
18	5433554	C	A	18	5433555	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon8:c.G826T:p.G276X;EPB41L3:NM_001281533:exon8:c.G826T:p.G276X;EPB41L3:NM_001281535:exon10:c.G499T:p.G167X;EPB41L3:NM_012307:exon8:c.G826T:p.G276X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon8:c.G826T:p.G276X;ENSG00000082397:ENST00000341928:exon8:c.G826T:p.G276X;ENSG00000082397:ENST00000544123:exon8:c.G826T:p.G276X;ENSG00000082397:ENST00000540638:exon8:c.G826T:p.G276X;ENSG00000082397:ENST00000400111:exon8:c.G826T:p.G276X;	0.987211888648224	0.912
18	5433554	C	G	18	5433555	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.G826C:p.G276R;EPB41L3:NM_001281533:exon8:c.G826C:p.G276R;EPB41L3:NM_001281535:exon10:c.G499C:p.G167R;EPB41L3:NM_012307:exon8:c.G826C:p.G276R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.G826C:p.G276R;ENSG00000082397:ENST00000341928:exon8:c.G826C:p.G276R;ENSG00000082397:ENST00000544123:exon8:c.G826C:p.G276R;ENSG00000082397:ENST00000540638:exon8:c.G826C:p.G276R;ENSG00000082397:ENST00000400111:exon8:c.G826C:p.G276R;	0.97916501068419	0.908
18	5433554	C	T	18	5433555	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.G826A:p.G276R;EPB41L3:NM_001281533:exon8:c.G826A:p.G276R;EPB41L3:NM_001281535:exon10:c.G499A:p.G167R;EPB41L3:NM_012307:exon8:c.G826A:p.G276R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.G826A:p.G276R;ENSG00000082397:ENST00000341928:exon8:c.G826A:p.G276R;ENSG00000082397:ENST00000544123:exon8:c.G826A:p.G276R;ENSG00000082397:ENST00000540638:exon8:c.G826A:p.G276R;ENSG00000082397:ENST00000400111:exon8:c.G826A:p.G276R;	0.990042185306421	0.858
18	5433555	T	A	18	5433556	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.A825T:p.R275S;EPB41L3:NM_001281533:exon8:c.A825T:p.R275S;EPB41L3:NM_001281535:exon10:c.A498T:p.R166S;EPB41L3:NM_012307:exon8:c.A825T:p.R275S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.A825T:p.R275S;ENSG00000082397:ENST00000341928:exon8:c.A825T:p.R275S;ENSG00000082397:ENST00000544123:exon8:c.A825T:p.R275S;ENSG00000082397:ENST00000540638:exon8:c.A825T:p.R275S;ENSG00000082397:ENST00000400111:exon8:c.A825T:p.R275S;	0.0416863045511382	0.206
18	5433555	T	C	18	5433556	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon8:c.A825G:p.R275R;EPB41L3:NM_001281533:exon8:c.A825G:p.R275R;EPB41L3:NM_001281535:exon10:c.A498G:p.R166R;EPB41L3:NM_012307:exon8:c.A825G:p.R275R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.A825G:p.R275R;ENSG00000082397:ENST00000341928:exon8:c.A825G:p.R275R;ENSG00000082397:ENST00000544123:exon8:c.A825G:p.R275R;ENSG00000082397:ENST00000540638:exon8:c.A825G:p.R275R;ENSG00000082397:ENST00000400111:exon8:c.A825G:p.R275R;	0.00238383571881294	0.09
18	5433555	T	G	18	5433556	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon8:c.A825C:p.R275S;EPB41L3:NM_001281533:exon8:c.A825C:p.R275S;EPB41L3:NM_001281535:exon10:c.A498C:p.R166S;EPB41L3:NM_012307:exon8:c.A825C:p.R275S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon8:c.A825C:p.R275S;ENSG00000082397:ENST00000341928:exon8:c.A825C:p.R275S;ENSG00000082397:ENST00000544123:exon8:c.A825C:p.R275S;ENSG00000082397:ENST00000540638:exon8:c.A825C:p.R275S;ENSG00000082397:ENST00000400111:exon8:c.A825C:p.R275S;	0.0670323910988698	0.24
18	5433556	C	A	18	5433557	y	y	splicing	EPB41L3(NM_001281535:exon11:c.498-1G>T;NM_001281533:exon9:c.825-1G>T;NM_012307:exon9:c.825-1G>T;NM_001281534:exon9:c.825-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.825-1G>T;ENST00000544123:exon9:c.825-1G>T;ENST00000540638:exon9:c.825-1G>T;ENST00000400111:exon9:c.825-1G>T;ENST00000342933:exon9:c.825-1G>T)	.	.	0.999990361384395	0.938
18	5433556	C	G	18	5433557	y	y	splicing	EPB41L3(NM_001281535:exon11:c.498-1G>C;NM_001281533:exon9:c.825-1G>C;NM_012307:exon9:c.825-1G>C;NM_001281534:exon9:c.825-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.825-1G>C;ENST00000544123:exon9:c.825-1G>C;ENST00000540638:exon9:c.825-1G>C;ENST00000400111:exon9:c.825-1G>C;ENST00000342933:exon9:c.825-1G>C)	.	.	0.999990361384395	0.938
18	5433556	C	T	18	5433557	y	y	splicing	EPB41L3(NM_001281535:exon11:c.498-1G>A;NM_001281533:exon9:c.825-1G>A;NM_012307:exon9:c.825-1G>A;NM_001281534:exon9:c.825-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.825-1G>A;ENST00000544123:exon9:c.825-1G>A;ENST00000540638:exon9:c.825-1G>A;ENST00000400111:exon9:c.825-1G>A;ENST00000342933:exon9:c.825-1G>A)	.	.	0.999990361384395	0.91
18	5433557	T	A	18	5433558	y	y	splicing	EPB41L3(NM_001281535:exon11:c.498-2A>T;NM_001281533:exon9:c.825-2A>T;NM_012307:exon9:c.825-2A>T;NM_001281534:exon9:c.825-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.825-2A>T;ENST00000544123:exon9:c.825-2A>T;ENST00000540638:exon9:c.825-2A>T;ENST00000400111:exon9:c.825-2A>T;ENST00000342933:exon9:c.825-2A>T)	.	.	0.999988247793601	0.928
18	5433557	T	C	18	5433558	y	y	splicing	EPB41L3(NM_001281535:exon11:c.498-2A>G;NM_001281533:exon9:c.825-2A>G;NM_012307:exon9:c.825-2A>G;NM_001281534:exon9:c.825-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.825-2A>G;ENST00000544123:exon9:c.825-2A>G;ENST00000540638:exon9:c.825-2A>G;ENST00000400111:exon9:c.825-2A>G;ENST00000342933:exon9:c.825-2A>G)	.	.	0.999988247793601	0.928
18	5433557	T	G	18	5433558	y	y	splicing	EPB41L3(NM_001281535:exon11:c.498-2A>C;NM_001281533:exon9:c.825-2A>C;NM_012307:exon9:c.825-2A>C;NM_001281534:exon9:c.825-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon9:c.825-2A>C;ENST00000544123:exon9:c.825-2A>C;ENST00000540638:exon9:c.825-2A>C;ENST00000400111:exon9:c.825-2A>C;ENST00000342933:exon9:c.825-2A>C)	.	.	0.999988247793601	0.928
18	5433558	G	A	18	5433559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0443327441620099	0.134
18	5433558	G	C	18	5433559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999869092992605	0.942
18	5433558	G	T	18	5433559	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99599673620262	0.78
18	5433559	A	C	18	5433560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.198189924299158	0.476
18	5433559	A	G	18	5433560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.26857412242559E-4	0.006
18	5433559	A	T	18	5433560	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.39688756958596E-4	0.024
18	5433560	T	A	18	5433561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.78337773177021E-4	0.006
18	5433560	T	C	18	5433561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.02361314677024E-4	0.038
18	5433560	T	G	18	5433561	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.72901988520701E-4	0.004
18	5433561	G	A	18	5433562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.60255954973168E-5	0.0
18	5433561	G	C	18	5433562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.58720690475275E-4	0.07
18	5433561	G	T	18	5433562	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.82952209708665E-4	0.066
18	5433562	A	C	18	5433563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0426812364588234	0.11
18	5433562	A	G	18	5433563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.8520360443911E-4	0.036
18	5433562	A	T	18	5433563	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0313292264732745	0.122
18	5433563	G	A	18	5433564	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.25781319803139E-4	0.0
18	5433563	G	C	18	5433564	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00144844722675349	0.08
18	5433563	G	T	18	5433564	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00371964093347642	0.044
18	5433564	A	C	18	5433565	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0024236517922674	0.086
18	5433564	A	G	18	5433565	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.23889820025554E-5	0.006
18	5433564	A	T	18	5433565	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0134889235593191	0.19
18	5433565	A	C	18	5433566	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.77757552095517E-4	0.106
18	5433565	A	G	18	5433566	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.39097280735755E-5	0.0
18	5433565	A	T	18	5433566	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.86485263573647E-4	0.084
18	5433566	G	A	18	5433567	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.91058154597018E-5	0.0
18	5433566	G	C	18	5433567	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.04323497241875E-4	0.052
18	5433566	G	T	18	5433567	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.56253547269764E-4	0.044
18	5433567	A	C	18	5433568	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.36391463466816E-4	0.078
18	5433567	A	G	18	5433568	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.04046893000586E-5	0.0
18	5433567	A	T	18	5433568	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.84060284735655E-4	0.078
18	5433894	C	A	18	5433895	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.46742339957974E-4	0.052
18	5433894	C	G	18	5433895	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.7532935201599E-4	0.046
18	5433894	C	T	18	5433895	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.36187302972482E-4	0.028
18	5433895	C	A	18	5433896	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.2777345682912E-4	0.008
18	5433895	C	G	18	5433896	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.64565939418366E-4	0.004
18	5433895	C	T	18	5433896	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.49296680457229E-4	0.004
18	5433896	T	A	18	5433897	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.42514273243517E-4	0.056
18	5433896	T	C	18	5433897	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93400377354736E-5	0.0
18	5433896	T	G	18	5433897	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00170269226431456	0.106
18	5433897	C	A	18	5433898	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999990211700263	0.836
18	5433897	C	G	18	5433898	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999988773204808	0.982
18	5433897	C	T	18	5433898	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999959491682713	0.894
18	5433898	T	A	18	5433899	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.8567920190108	0.508
18	5433898	T	C	18	5433899	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.814761775751316	0.53
18	5433898	T	G	18	5433899	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.89924525684722	0.45
18	5433899	A	C	18	5433900	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.30826316373757E-4	0.096
18	5433899	A	G	18	5433900	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.75616019921551E-5	0.182
18	5433899	A	T	18	5433900	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.63430435177734E-4	0.048
18	5433900	A	C	18	5433901	y	y	splicing	EPB41L3(NM_001281535:exon10:c.497+2T>G;NM_001281533:exon8:c.824+2T>G;NM_012307:exon8:c.824+2T>G;NM_001281534:exon8:c.824+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.824+2T>G;ENST00000544123:exon8:c.824+2T>G;ENST00000540638:exon8:c.824+2T>G;ENST00000400111:exon8:c.824+2T>G;ENST00000342933:exon8:c.824+2T>G)	.	.	0.999988247793601	0.932
18	5433900	A	G	18	5433901	y	y	splicing	EPB41L3(NM_001281535:exon10:c.497+2T>C;NM_001281533:exon8:c.824+2T>C;NM_012307:exon8:c.824+2T>C;NM_001281534:exon8:c.824+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.824+2T>C;ENST00000544123:exon8:c.824+2T>C;ENST00000540638:exon8:c.824+2T>C;ENST00000400111:exon8:c.824+2T>C;ENST00000342933:exon8:c.824+2T>C)	.	.	0.999934643991786	0.902
18	5433900	A	T	18	5433901	y	y	splicing	EPB41L3(NM_001281535:exon10:c.497+2T>A;NM_001281533:exon8:c.824+2T>A;NM_012307:exon8:c.824+2T>A;NM_001281534:exon8:c.824+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.824+2T>A;ENST00000544123:exon8:c.824+2T>A;ENST00000540638:exon8:c.824+2T>A;ENST00000400111:exon8:c.824+2T>A;ENST00000342933:exon8:c.824+2T>A)	.	.	0.999988247793601	0.932
18	5433901	C	A	18	5433902	y	y	splicing	EPB41L3(NM_001281535:exon10:c.497+1G>T;NM_001281533:exon8:c.824+1G>T;NM_012307:exon8:c.824+1G>T;NM_001281534:exon8:c.824+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.824+1G>T;ENST00000544123:exon8:c.824+1G>T;ENST00000540638:exon8:c.824+1G>T;ENST00000400111:exon8:c.824+1G>T;ENST00000342933:exon8:c.824+1G>T)	.	.	0.999990361384395	0.938
18	5433901	C	G	18	5433902	y	y	splicing	EPB41L3(NM_001281535:exon10:c.497+1G>C;NM_001281533:exon8:c.824+1G>C;NM_012307:exon8:c.824+1G>C;NM_001281534:exon8:c.824+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.824+1G>C;ENST00000544123:exon8:c.824+1G>C;ENST00000540638:exon8:c.824+1G>C;ENST00000400111:exon8:c.824+1G>C;ENST00000342933:exon8:c.824+1G>C)	.	.	0.999990361384395	0.938
18	5433901	C	T	18	5433902	y	y	splicing	EPB41L3(NM_001281535:exon10:c.497+1G>A;NM_001281533:exon8:c.824+1G>A;NM_012307:exon8:c.824+1G>A;NM_001281534:exon8:c.824+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.824+1G>A;ENST00000544123:exon8:c.824+1G>A;ENST00000540638:exon8:c.824+1G>A;ENST00000400111:exon8:c.824+1G>A;ENST00000342933:exon8:c.824+1G>A)	.	.	0.999990361384395	0.938
18	5433902	C	A	18	5433903	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.G824T:p.R275I;EPB41L3:NM_001281533:exon7:c.G824T:p.R275I;EPB41L3:NM_001281535:exon9:c.G497T:p.R166I;EPB41L3:NM_012307:exon7:c.G824T:p.R275I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.G824T:p.R275I;ENSG00000082397:ENST00000341928:exon7:c.G824T:p.R275I;ENSG00000082397:ENST00000544123:exon7:c.G824T:p.R275I;ENSG00000082397:ENST00000540638:exon7:c.G824T:p.R275I;ENSG00000082397:ENST00000400111:exon7:c.G824T:p.R275I;	0.99999521048801	1.0
18	5433902	C	G	18	5433903	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.G824C:p.R275T;EPB41L3:NM_001281533:exon7:c.G824C:p.R275T;EPB41L3:NM_001281535:exon9:c.G497C:p.R166T;EPB41L3:NM_012307:exon7:c.G824C:p.R275T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.G824C:p.R275T;ENSG00000082397:ENST00000341928:exon7:c.G824C:p.R275T;ENSG00000082397:ENST00000544123:exon7:c.G824C:p.R275T;ENSG00000082397:ENST00000540638:exon7:c.G824C:p.R275T;ENSG00000082397:ENST00000400111:exon7:c.G824C:p.R275T;	0.999998122414291	1.0
18	5433902	C	T	18	5433903	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.G824A:p.R275K;EPB41L3:NM_001281533:exon7:c.G824A:p.R275K;EPB41L3:NM_001281535:exon9:c.G497A:p.R166K;EPB41L3:NM_012307:exon7:c.G824A:p.R275K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.G824A:p.R275K;ENSG00000082397:ENST00000341928:exon7:c.G824A:p.R275K;ENSG00000082397:ENST00000544123:exon7:c.G824A:p.R275K;ENSG00000082397:ENST00000540638:exon7:c.G824A:p.R275K;ENSG00000082397:ENST00000400111:exon7:c.G824A:p.R275K;	0.999993714598568	1.0
18	5433903	T	A	18	5433904	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon7:c.A823T:p.R275X;EPB41L3:NM_001281533:exon7:c.A823T:p.R275X;EPB41L3:NM_001281535:exon9:c.A496T:p.R166X;EPB41L3:NM_012307:exon7:c.A823T:p.R275X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000342933:exon7:c.A823T:p.R275X;ENSG00000082397:ENST00000341928:exon7:c.A823T:p.R275X;ENSG00000082397:ENST00000544123:exon7:c.A823T:p.R275X;ENSG00000082397:ENST00000540638:exon7:c.A823T:p.R275X;ENSG00000082397:ENST00000400111:exon7:c.A823T:p.R275X;	0.999804829394526	0.958
18	5433903	T	C	18	5433904	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.A823G:p.R275G;EPB41L3:NM_001281533:exon7:c.A823G:p.R275G;EPB41L3:NM_001281535:exon9:c.A496G:p.R166G;EPB41L3:NM_012307:exon7:c.A823G:p.R275G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.A823G:p.R275G;ENSG00000082397:ENST00000341928:exon7:c.A823G:p.R275G;ENSG00000082397:ENST00000544123:exon7:c.A823G:p.R275G;ENSG00000082397:ENST00000540638:exon7:c.A823G:p.R275G;ENSG00000082397:ENST00000400111:exon7:c.A823G:p.R275G;	0.999966369076009	0.974
18	5433903	T	G	18	5433904	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon7:c.A823C:p.R275R;EPB41L3:NM_001281533:exon7:c.A823C:p.R275R;EPB41L3:NM_001281535:exon9:c.A496C:p.R166R;EPB41L3:NM_012307:exon7:c.A823C:p.R275R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.A823C:p.R275R;ENSG00000082397:ENST00000341928:exon7:c.A823C:p.R275R;ENSG00000082397:ENST00000544123:exon7:c.A823C:p.R275R;ENSG00000082397:ENST00000540638:exon7:c.A823C:p.R275R;ENSG00000082397:ENST00000400111:exon7:c.A823C:p.R275R;	0.99977667563717	0.95
18	5433904	G	A	18	5433905	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon7:c.C822T:p.H274H;EPB41L3:NM_001281533:exon7:c.C822T:p.H274H;EPB41L3:NM_001281535:exon9:c.C495T:p.H165H;EPB41L3:NM_012307:exon7:c.C822T:p.H274H;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.C822T:p.H274H;ENSG00000082397:ENST00000341928:exon7:c.C822T:p.H274H;ENSG00000082397:ENST00000544123:exon7:c.C822T:p.H274H;ENSG00000082397:ENST00000540638:exon7:c.C822T:p.H274H;ENSG00000082397:ENST00000400111:exon7:c.C822T:p.H274H;	0.999122475311395	0.898
18	5433904	G	C	18	5433905	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.C822G:p.H274Q;EPB41L3:NM_001281533:exon7:c.C822G:p.H274Q;EPB41L3:NM_001281535:exon9:c.C495G:p.H165Q;EPB41L3:NM_012307:exon7:c.C822G:p.H274Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.C822G:p.H274Q;ENSG00000082397:ENST00000341928:exon7:c.C822G:p.H274Q;ENSG00000082397:ENST00000544123:exon7:c.C822G:p.H274Q;ENSG00000082397:ENST00000540638:exon7:c.C822G:p.H274Q;ENSG00000082397:ENST00000400111:exon7:c.C822G:p.H274Q;	0.959189765709009	0.708
18	5433904	G	T	18	5433905	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.C822A:p.H274Q;EPB41L3:NM_001281533:exon7:c.C822A:p.H274Q;EPB41L3:NM_001281535:exon9:c.C495A:p.H165Q;EPB41L3:NM_012307:exon7:c.C822A:p.H274Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.C822A:p.H274Q;ENSG00000082397:ENST00000341928:exon7:c.C822A:p.H274Q;ENSG00000082397:ENST00000544123:exon7:c.C822A:p.H274Q;ENSG00000082397:ENST00000540638:exon7:c.C822A:p.H274Q;ENSG00000082397:ENST00000400111:exon7:c.C822A:p.H274Q;	0.946602776670852	0.856
18	5434119	A	C	18	5434120	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.T607G:p.Y203D;EPB41L3:NM_001281533:exon7:c.T607G:p.Y203D;EPB41L3:NM_001281535:exon9:c.T280G:p.Y94D;EPB41L3:NM_012307:exon7:c.T607G:p.Y203D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.T607G:p.Y203D;ENSG00000082397:ENST00000341928:exon7:c.T607G:p.Y203D;ENSG00000082397:ENST00000544123:exon7:c.T607G:p.Y203D;ENSG00000082397:ENST00000540638:exon7:c.T607G:p.Y203D;ENSG00000082397:ENST00000400111:exon7:c.T607G:p.Y203D;	0.885928215585078	0.546
18	5434119	A	G	18	5434120	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.T607C:p.Y203H;EPB41L3:NM_001281533:exon7:c.T607C:p.Y203H;EPB41L3:NM_001281535:exon9:c.T280C:p.Y94H;EPB41L3:NM_012307:exon7:c.T607C:p.Y203H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.T607C:p.Y203H;ENSG00000082397:ENST00000341928:exon7:c.T607C:p.Y203H;ENSG00000082397:ENST00000544123:exon7:c.T607C:p.Y203H;ENSG00000082397:ENST00000540638:exon7:c.T607C:p.Y203H;ENSG00000082397:ENST00000400111:exon7:c.T607C:p.Y203H;	0.931608002585275	0.582
18	5434119	A	T	18	5434120	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.T607A:p.Y203N;EPB41L3:NM_001281533:exon7:c.T607A:p.Y203N;EPB41L3:NM_001281535:exon9:c.T280A:p.Y94N;EPB41L3:NM_012307:exon7:c.T607A:p.Y203N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.T607A:p.Y203N;ENSG00000082397:ENST00000341928:exon7:c.T607A:p.Y203N;ENSG00000082397:ENST00000544123:exon7:c.T607A:p.Y203N;ENSG00000082397:ENST00000540638:exon7:c.T607A:p.Y203N;ENSG00000082397:ENST00000400111:exon7:c.T607A:p.Y203N;	0.948697961790097	0.592
18	5434120	C	A	18	5434121	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.G606T:p.R202S;EPB41L3:NM_001281533:exon7:c.G606T:p.R202S;EPB41L3:NM_001281535:exon9:c.G279T:p.R93S;EPB41L3:NM_012307:exon7:c.G606T:p.R202S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.G606T:p.R202S;ENSG00000082397:ENST00000341928:exon7:c.G606T:p.R202S;ENSG00000082397:ENST00000544123:exon7:c.G606T:p.R202S;ENSG00000082397:ENST00000540638:exon7:c.G606T:p.R202S;ENSG00000082397:ENST00000400111:exon7:c.G606T:p.R202S;	0.999963133546606	0.994
18	5434120	C	G	18	5434121	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon7:c.G606C:p.R202S;EPB41L3:NM_001281533:exon7:c.G606C:p.R202S;EPB41L3:NM_001281535:exon9:c.G279C:p.R93S;EPB41L3:NM_012307:exon7:c.G606C:p.R202S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.G606C:p.R202S;ENSG00000082397:ENST00000341928:exon7:c.G606C:p.R202S;ENSG00000082397:ENST00000544123:exon7:c.G606C:p.R202S;ENSG00000082397:ENST00000540638:exon7:c.G606C:p.R202S;ENSG00000082397:ENST00000400111:exon7:c.G606C:p.R202S;	0.999929560493235	0.98
18	5434120	C	T	18	5434121	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon7:c.G606A:p.R202R;EPB41L3:NM_001281533:exon7:c.G606A:p.R202R;EPB41L3:NM_001281535:exon9:c.G279A:p.R93R;EPB41L3:NM_012307:exon7:c.G606A:p.R202R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon7:c.G606A:p.R202R;ENSG00000082397:ENST00000341928:exon7:c.G606A:p.R202R;ENSG00000082397:ENST00000544123:exon7:c.G606A:p.R202R;ENSG00000082397:ENST00000540638:exon7:c.G606A:p.R202R;ENSG00000082397:ENST00000400111:exon7:c.G606A:p.R202R;	0.999875024096535	0.954
18	5434121	C	A	18	5434122	y	y	splicing	EPB41L3(NM_001281535:exon10:c.279-1G>T;NM_001281533:exon8:c.606-1G>T;NM_012307:exon8:c.606-1G>T;NM_001281534:exon8:c.606-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.606-1G>T;ENST00000544123:exon8:c.606-1G>T;ENST00000540638:exon8:c.606-1G>T;ENST00000400111:exon8:c.606-1G>T;ENST00000342933:exon8:c.606-1G>T)	.	.	0.999989125585301	0.944
18	5434121	C	G	18	5434122	y	y	splicing	EPB41L3(NM_001281535:exon10:c.279-1G>C;NM_001281533:exon8:c.606-1G>C;NM_012307:exon8:c.606-1G>C;NM_001281534:exon8:c.606-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.606-1G>C;ENST00000544123:exon8:c.606-1G>C;ENST00000540638:exon8:c.606-1G>C;ENST00000400111:exon8:c.606-1G>C;ENST00000342933:exon8:c.606-1G>C)	.	.	0.999989125585301	0.944
18	5434121	C	T	18	5434122	y	y	splicing	EPB41L3(NM_001281535:exon10:c.279-1G>A;NM_001281533:exon8:c.606-1G>A;NM_012307:exon8:c.606-1G>A;NM_001281534:exon8:c.606-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.606-1G>A;ENST00000544123:exon8:c.606-1G>A;ENST00000540638:exon8:c.606-1G>A;ENST00000400111:exon8:c.606-1G>A;ENST00000342933:exon8:c.606-1G>A)	.	.	0.999989125585301	0.944
18	5434122	T	A	18	5434123	y	y	splicing	EPB41L3(NM_001281535:exon10:c.279-2A>T;NM_001281533:exon8:c.606-2A>T;NM_012307:exon8:c.606-2A>T;NM_001281534:exon8:c.606-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.606-2A>T;ENST00000544123:exon8:c.606-2A>T;ENST00000540638:exon8:c.606-2A>T;ENST00000400111:exon8:c.606-2A>T;ENST00000342933:exon8:c.606-2A>T)	.	.	0.999986741007567	0.944
18	5434122	T	C	18	5434123	y	y	splicing	EPB41L3(NM_001281535:exon10:c.279-2A>G;NM_001281533:exon8:c.606-2A>G;NM_012307:exon8:c.606-2A>G;NM_001281534:exon8:c.606-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.606-2A>G;ENST00000544123:exon8:c.606-2A>G;ENST00000540638:exon8:c.606-2A>G;ENST00000400111:exon8:c.606-2A>G;ENST00000342933:exon8:c.606-2A>G)	.	.	0.999986741007567	0.944
18	5434122	T	G	18	5434123	y	y	splicing	EPB41L3(NM_001281535:exon10:c.279-2A>C;NM_001281533:exon8:c.606-2A>C;NM_012307:exon8:c.606-2A>C;NM_001281534:exon8:c.606-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon8:c.606-2A>C;ENST00000544123:exon8:c.606-2A>C;ENST00000540638:exon8:c.606-2A>C;ENST00000400111:exon8:c.606-2A>C;ENST00000342933:exon8:c.606-2A>C)	.	.	0.999986741007567	0.944
18	5434123	T	A	18	5434124	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00496806954234731	0.198
18	5434123	T	C	18	5434124	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.969645173988954	0.542
18	5434123	T	G	18	5434124	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00299855233544037	0.176
18	5434124	C	A	18	5434125	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0297095721351024	0.16
18	5434124	C	G	18	5434125	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0138706475596121	0.13
18	5434124	C	T	18	5434125	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.108255575869208	0.296
18	5434125	C	A	18	5434126	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00114718363590577	0.086
18	5434125	C	G	18	5434126	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.07080640409271E-4	0.03
18	5434125	C	T	18	5434126	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995149333092258	0.852
18	5434126	A	C	18	5434127	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00727082775847669	0.15
18	5434126	A	G	18	5434127	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.97490653715849E-5	0.02
18	5434126	A	T	18	5434127	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999653968596103	0.86
18	5434127	G	A	18	5434128	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.59699081404636E-4	0.05
18	5434127	G	C	18	5434128	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0550014937251645	0.22
18	5434127	G	T	18	5434128	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0613659888830353	0.218
18	5434128	G	A	18	5434129	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.057135240271E-4	0.014
18	5434128	G	C	18	5434129	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.46840158256682E-4	0.054
18	5434128	G	T	18	5434129	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00105517990289521	0.086
18	5434129	A	C	18	5434130	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0165291564763606	0.31
18	5434129	A	G	18	5434130	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.64722077931467E-4	0.05
18	5434129	A	T	18	5434130	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.431079957391938	0.354
18	5434130	A	C	18	5434131	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00462872036405575	0.284
18	5434130	A	G	18	5434131	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.27474657128934E-4	0.116
18	5434130	A	T	18	5434131	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0687644215565614	0.344
18	5434131	C	A	18	5434132	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.09397824780003E-4	0.16
18	5434131	C	G	18	5434132	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.11233873714417E-4	0.054
18	5434131	C	T	18	5434132	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00100948294048753	0.098
18	5434132	C	A	18	5434133	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.01157582102172E-4	0.04
18	5434132	C	G	18	5434133	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.32838188268737E-4	0.034
18	5434132	C	T	18	5434133	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999865013028179	0.974
18	5438026	T	A	18	5438027	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.23450853386215E-4	0.008
18	5438026	T	C	18	5438027	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.2086790110899E-4	0.024
18	5438026	T	G	18	5438027	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.16797299872693E-4	0.006
18	5438027	C	A	18	5438028	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00101166184906628	0.006
18	5438027	C	G	18	5438028	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.0301830744353E-4	0.012
18	5438027	C	T	18	5438028	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00162347356344396	0.014
18	5438028	A	C	18	5438029	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.794952559959085	0.528
18	5438028	A	G	18	5438029	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.891495254311354	0.594
18	5438028	A	T	18	5438029	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.916648839796046	0.518
18	5438029	A	C	18	5438030	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.34969114472882E-4	0.05
18	5438029	A	G	18	5438030	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.96227725846036E-4	0.018
18	5438029	A	T	18	5438030	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00395269689784284	0.094
18	5438030	A	C	18	5438031	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.22921490874223E-4	0.042
18	5438030	A	G	18	5438031	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.12270216056931E-4	0.096
18	5438030	A	T	18	5438031	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.5637100061067E-5	0.066
18	5438031	T	A	18	5438032	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998852796704199	0.91
18	5438031	T	C	18	5438032	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999608910093108	0.98
18	5438031	T	G	18	5438032	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999783574689204	0.974
18	5438032	A	C	18	5438033	y	y	splicing	EPB41L3(NM_001281535:exon9:c.278+2T>G;NM_001281533:exon7:c.605+2T>G;NM_012307:exon7:c.605+2T>G;NM_001281534:exon7:c.605+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.605+2T>G;ENST00000544123:exon7:c.605+2T>G;ENST00000540638:exon7:c.605+2T>G;ENST00000400111:exon7:c.605+2T>G;ENST00000342933:exon7:c.605+2T>G)	.	.	0.999986741007567	0.946
18	5438032	A	G	18	5438033	y	y	splicing	EPB41L3(NM_001281535:exon9:c.278+2T>C;NM_001281533:exon7:c.605+2T>C;NM_012307:exon7:c.605+2T>C;NM_001281534:exon7:c.605+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.605+2T>C;ENST00000544123:exon7:c.605+2T>C;ENST00000540638:exon7:c.605+2T>C;ENST00000400111:exon7:c.605+2T>C;ENST00000342933:exon7:c.605+2T>C)	.	.	0.991423950834714	0.724
18	5438032	A	T	18	5438033	y	y	splicing	EPB41L3(NM_001281535:exon9:c.278+2T>A;NM_001281533:exon7:c.605+2T>A;NM_012307:exon7:c.605+2T>A;NM_001281534:exon7:c.605+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.605+2T>A;ENST00000544123:exon7:c.605+2T>A;ENST00000540638:exon7:c.605+2T>A;ENST00000400111:exon7:c.605+2T>A;ENST00000342933:exon7:c.605+2T>A)	.	.	0.999986741007567	0.946
18	5438033	C	A	18	5438034	y	y	splicing	EPB41L3(NM_001281535:exon9:c.278+1G>T;NM_001281533:exon7:c.605+1G>T;NM_012307:exon7:c.605+1G>T;NM_001281534:exon7:c.605+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.605+1G>T;ENST00000544123:exon7:c.605+1G>T;ENST00000540638:exon7:c.605+1G>T;ENST00000400111:exon7:c.605+1G>T;ENST00000342933:exon7:c.605+1G>T)	.	.	0.999989125585301	0.944
18	5438033	C	G	18	5438034	y	y	splicing	EPB41L3(NM_001281535:exon9:c.278+1G>C;NM_001281533:exon7:c.605+1G>C;NM_012307:exon7:c.605+1G>C;NM_001281534:exon7:c.605+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.605+1G>C;ENST00000544123:exon7:c.605+1G>C;ENST00000540638:exon7:c.605+1G>C;ENST00000400111:exon7:c.605+1G>C;ENST00000342933:exon7:c.605+1G>C)	.	.	0.999989125585301	0.944
18	5438033	C	T	18	5438034	y	y	splicing	EPB41L3(NM_001281535:exon9:c.278+1G>A;NM_001281533:exon7:c.605+1G>A;NM_012307:exon7:c.605+1G>A;NM_001281534:exon7:c.605+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.605+1G>A;ENST00000544123:exon7:c.605+1G>A;ENST00000540638:exon7:c.605+1G>A;ENST00000400111:exon7:c.605+1G>A;ENST00000342933:exon7:c.605+1G>A)	.	.	0.999989125585301	0.944
18	5438034	C	A	18	5438035	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.G605T:p.R202M;EPB41L3:NM_001281533:exon6:c.G605T:p.R202M;EPB41L3:NM_001281535:exon8:c.G278T:p.R93M;EPB41L3:NM_012307:exon6:c.G605T:p.R202M;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.G605T:p.R202M;ENSG00000082397:ENST00000341928:exon6:c.G605T:p.R202M;ENSG00000082397:ENST00000544123:exon6:c.G605T:p.R202M;ENSG00000082397:ENST00000540638:exon6:c.G605T:p.R202M;ENSG00000082397:ENST00000400111:exon6:c.G605T:p.R202M;	0.999985603782643	1.0
18	5438034	C	G	18	5438035	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.G605C:p.R202T;EPB41L3:NM_001281533:exon6:c.G605C:p.R202T;EPB41L3:NM_001281535:exon8:c.G278C:p.R93T;EPB41L3:NM_012307:exon6:c.G605C:p.R202T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.G605C:p.R202T;ENSG00000082397:ENST00000341928:exon6:c.G605C:p.R202T;ENSG00000082397:ENST00000544123:exon6:c.G605C:p.R202T;ENSG00000082397:ENST00000540638:exon6:c.G605C:p.R202T;ENSG00000082397:ENST00000400111:exon6:c.G605C:p.R202T;	0.999996263098374	1.0
18	5438034	C	T	18	5438035	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.G605A:p.R202K;EPB41L3:NM_001281533:exon6:c.G605A:p.R202K;EPB41L3:NM_001281535:exon8:c.G278A:p.R93K;EPB41L3:NM_012307:exon6:c.G605A:p.R202K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.G605A:p.R202K;ENSG00000082397:ENST00000341928:exon6:c.G605A:p.R202K;ENSG00000082397:ENST00000544123:exon6:c.G605A:p.R202K;ENSG00000082397:ENST00000540638:exon6:c.G605A:p.R202K;ENSG00000082397:ENST00000400111:exon6:c.G605A:p.R202K;	0.999995251296178	1.0
18	5438035	T	A	18	5438036	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.A604T:p.R202W;EPB41L3:NM_001281533:exon6:c.A604T:p.R202W;EPB41L3:NM_001281535:exon8:c.A277T:p.R93W;EPB41L3:NM_012307:exon6:c.A604T:p.R202W;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.A604T:p.R202W;ENSG00000082397:ENST00000341928:exon6:c.A604T:p.R202W;ENSG00000082397:ENST00000544123:exon6:c.A604T:p.R202W;ENSG00000082397:ENST00000540638:exon6:c.A604T:p.R202W;ENSG00000082397:ENST00000400111:exon6:c.A604T:p.R202W;	0.999959896197656	0.992
18	5438035	T	C	18	5438036	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.A604G:p.R202G;EPB41L3:NM_001281533:exon6:c.A604G:p.R202G;EPB41L3:NM_001281535:exon8:c.A277G:p.R93G;EPB41L3:NM_012307:exon6:c.A604G:p.R202G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.A604G:p.R202G;ENSG00000082397:ENST00000341928:exon6:c.A604G:p.R202G;ENSG00000082397:ENST00000544123:exon6:c.A604G:p.R202G;ENSG00000082397:ENST00000540638:exon6:c.A604G:p.R202G;ENSG00000082397:ENST00000400111:exon6:c.A604G:p.R202G;	0.999940359142208	1.0
18	5438035	T	G	18	5438036	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon6:c.A604C:p.R202R;EPB41L3:NM_001281533:exon6:c.A604C:p.R202R;EPB41L3:NM_001281535:exon8:c.A277C:p.R93R;EPB41L3:NM_012307:exon6:c.A604C:p.R202R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.A604C:p.R202R;ENSG00000082397:ENST00000341928:exon6:c.A604C:p.R202R;ENSG00000082397:ENST00000544123:exon6:c.A604C:p.R202R;ENSG00000082397:ENST00000540638:exon6:c.A604C:p.R202R;ENSG00000082397:ENST00000400111:exon6:c.A604C:p.R202R;	0.99990958015182	0.988
18	5438036	G	A	18	5438037	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon6:c.C603T:p.T201T;EPB41L3:NM_001281533:exon6:c.C603T:p.T201T;EPB41L3:NM_001281535:exon8:c.C276T:p.T92T;EPB41L3:NM_012307:exon6:c.C603T:p.T201T;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.C603T:p.T201T;ENSG00000082397:ENST00000341928:exon6:c.C603T:p.T201T;ENSG00000082397:ENST00000544123:exon6:c.C603T:p.T201T;ENSG00000082397:ENST00000540638:exon6:c.C603T:p.T201T;ENSG00000082397:ENST00000400111:exon6:c.C603T:p.T201T;	0.99557972622538	0.804
18	5438036	G	C	18	5438037	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon6:c.C603G:p.T201T;EPB41L3:NM_001281533:exon6:c.C603G:p.T201T;EPB41L3:NM_001281535:exon8:c.C276G:p.T92T;EPB41L3:NM_012307:exon6:c.C603G:p.T201T;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.C603G:p.T201T;ENSG00000082397:ENST00000341928:exon6:c.C603G:p.T201T;ENSG00000082397:ENST00000544123:exon6:c.C603G:p.T201T;ENSG00000082397:ENST00000540638:exon6:c.C603G:p.T201T;ENSG00000082397:ENST00000400111:exon6:c.C603G:p.T201T;	0.70291818660156	0.596
18	5438036	G	T	18	5438037	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon6:c.C603A:p.T201T;EPB41L3:NM_001281533:exon6:c.C603A:p.T201T;EPB41L3:NM_001281535:exon8:c.C276A:p.T92T;EPB41L3:NM_012307:exon6:c.C603A:p.T201T;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.C603A:p.T201T;ENSG00000082397:ENST00000341928:exon6:c.C603A:p.T201T;ENSG00000082397:ENST00000544123:exon6:c.C603A:p.T201T;ENSG00000082397:ENST00000540638:exon6:c.C603A:p.T201T;ENSG00000082397:ENST00000400111:exon6:c.C603A:p.T201T;	0.7640113223536	0.658
18	5438108	A	C	18	5438109	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.T531G:p.S177R;EPB41L3:NM_001281533:exon6:c.T531G:p.S177R;EPB41L3:NM_001281535:exon8:c.T204G:p.S68R;EPB41L3:NM_012307:exon6:c.T531G:p.S177R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.T531G:p.S177R;ENSG00000082397:ENST00000341928:exon6:c.T531G:p.S177R;ENSG00000082397:ENST00000544123:exon6:c.T531G:p.S177R;ENSG00000082397:ENST00000540638:exon6:c.T531G:p.S177R;ENSG00000082397:ENST00000400111:exon6:c.T531G:p.S177R;	0.00365420004578586	0.022
18	5438108	A	G	18	5438109	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon6:c.T531C:p.S177S;EPB41L3:NM_001281533:exon6:c.T531C:p.S177S;EPB41L3:NM_001281535:exon8:c.T204C:p.S68S;EPB41L3:NM_012307:exon6:c.T531C:p.S177S;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.T531C:p.S177S;ENSG00000082397:ENST00000341928:exon6:c.T531C:p.S177S;ENSG00000082397:ENST00000544123:exon6:c.T531C:p.S177S;ENSG00000082397:ENST00000540638:exon6:c.T531C:p.S177S;ENSG00000082397:ENST00000400111:exon6:c.T531C:p.S177S;	0.00142869552940231	0.066
18	5438108	A	T	18	5438109	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.T531A:p.S177R;EPB41L3:NM_001281533:exon6:c.T531A:p.S177R;EPB41L3:NM_001281535:exon8:c.T204A:p.S68R;EPB41L3:NM_012307:exon6:c.T531A:p.S177R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.T531A:p.S177R;ENSG00000082397:ENST00000341928:exon6:c.T531A:p.S177R;ENSG00000082397:ENST00000544123:exon6:c.T531A:p.S177R;ENSG00000082397:ENST00000540638:exon6:c.T531A:p.S177R;ENSG00000082397:ENST00000400111:exon6:c.T531A:p.S177R;	0.00462188932303888	0.022
18	5438109	C	A	18	5438110	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.G530T:p.S177I;EPB41L3:NM_001281533:exon6:c.G530T:p.S177I;EPB41L3:NM_001281535:exon8:c.G203T:p.S68I;EPB41L3:NM_012307:exon6:c.G530T:p.S177I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.G530T:p.S177I;ENSG00000082397:ENST00000341928:exon6:c.G530T:p.S177I;ENSG00000082397:ENST00000544123:exon6:c.G530T:p.S177I;ENSG00000082397:ENST00000540638:exon6:c.G530T:p.S177I;ENSG00000082397:ENST00000400111:exon6:c.G530T:p.S177I;	0.575295321052731	0.562
18	5438109	C	G	18	5438110	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.G530C:p.S177T;EPB41L3:NM_001281533:exon6:c.G530C:p.S177T;EPB41L3:NM_001281535:exon8:c.G203C:p.S68T;EPB41L3:NM_012307:exon6:c.G530C:p.S177T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.G530C:p.S177T;ENSG00000082397:ENST00000341928:exon6:c.G530C:p.S177T;ENSG00000082397:ENST00000544123:exon6:c.G530C:p.S177T;ENSG00000082397:ENST00000540638:exon6:c.G530C:p.S177T;ENSG00000082397:ENST00000400111:exon6:c.G530C:p.S177T;	0.0163671898922671	0.324
18	5438109	C	T	18	5438110	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon6:c.G530A:p.S177N;EPB41L3:NM_001281533:exon6:c.G530A:p.S177N;EPB41L3:NM_001281535:exon8:c.G203A:p.S68N;EPB41L3:NM_012307:exon6:c.G530A:p.S177N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon6:c.G530A:p.S177N;ENSG00000082397:ENST00000341928:exon6:c.G530A:p.S177N;ENSG00000082397:ENST00000544123:exon6:c.G530A:p.S177N;ENSG00000082397:ENST00000540638:exon6:c.G530A:p.S177N;ENSG00000082397:ENST00000400111:exon6:c.G530A:p.S177N;	0.0031418907049252	0.26
18	5438110	C	A	18	5438111	y	y	splicing	EPB41L3(NM_001281535:exon9:c.203-1G>T;NM_001281533:exon7:c.530-1G>T;NM_012307:exon7:c.530-1G>T;NM_001281534:exon7:c.530-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.530-1G>T;ENST00000544123:exon7:c.530-1G>T;ENST00000540638:exon7:c.530-1G>T;ENST00000400111:exon7:c.530-1G>T;ENST00000342933:exon7:c.530-1G>T)	.	.	0.999989072007339	0.934
18	5438110	C	G	18	5438111	y	y	splicing	EPB41L3(NM_001281535:exon9:c.203-1G>C;NM_001281533:exon7:c.530-1G>C;NM_012307:exon7:c.530-1G>C;NM_001281534:exon7:c.530-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.530-1G>C;ENST00000544123:exon7:c.530-1G>C;ENST00000540638:exon7:c.530-1G>C;ENST00000400111:exon7:c.530-1G>C;ENST00000342933:exon7:c.530-1G>C)	.	.	0.999989072007339	0.934
18	5438110	C	T	18	5438111	y	y	splicing	EPB41L3(NM_001281535:exon9:c.203-1G>A;NM_001281533:exon7:c.530-1G>A;NM_012307:exon7:c.530-1G>A;NM_001281534:exon7:c.530-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.530-1G>A;ENST00000544123:exon7:c.530-1G>A;ENST00000540638:exon7:c.530-1G>A;ENST00000400111:exon7:c.530-1G>A;ENST00000342933:exon7:c.530-1G>A)	.	.	0.999989072007339	0.934
18	5438111	T	A	18	5438112	y	y	splicing	EPB41L3(NM_001281535:exon9:c.203-2A>T;NM_001281533:exon7:c.530-2A>T;NM_012307:exon7:c.530-2A>T;NM_001281534:exon7:c.530-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.530-2A>T;ENST00000544123:exon7:c.530-2A>T;ENST00000540638:exon7:c.530-2A>T;ENST00000400111:exon7:c.530-2A>T;ENST00000342933:exon7:c.530-2A>T)	.	.	0.999988247793601	0.93
18	5438111	T	C	18	5438112	y	y	splicing	EPB41L3(NM_001281535:exon9:c.203-2A>G;NM_001281533:exon7:c.530-2A>G;NM_012307:exon7:c.530-2A>G;NM_001281534:exon7:c.530-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.530-2A>G;ENST00000544123:exon7:c.530-2A>G;ENST00000540638:exon7:c.530-2A>G;ENST00000400111:exon7:c.530-2A>G;ENST00000342933:exon7:c.530-2A>G)	.	.	0.999988247793601	0.93
18	5438111	T	G	18	5438112	y	y	splicing	EPB41L3(NM_001281535:exon9:c.203-2A>C;NM_001281533:exon7:c.530-2A>C;NM_012307:exon7:c.530-2A>C;NM_001281534:exon7:c.530-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon7:c.530-2A>C;ENST00000544123:exon7:c.530-2A>C;ENST00000540638:exon7:c.530-2A>C;ENST00000400111:exon7:c.530-2A>C;ENST00000342933:exon7:c.530-2A>C)	.	.	0.999988247793601	0.93
18	5438112	G	A	18	5438113	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.020378396827443	0.16
18	5438112	G	C	18	5438113	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999849464370262	0.938
18	5438112	G	T	18	5438113	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.748718855281644	0.696
18	5438113	C	A	18	5438114	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.30197097858482E-4	0.0
18	5438113	C	G	18	5438114	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.27174716115638E-5	0.0
18	5438113	C	T	18	5438114	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.23060356384738E-4	0.0
18	5438114	A	C	18	5438115	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.02881735439116E-4	0.062
18	5438114	A	G	18	5438115	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.19474711569297E-5	0.0
18	5438114	A	T	18	5438115	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.993140349512723	0.758
18	5438115	A	C	18	5438116	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0104104673417193	0.062
18	5438115	A	G	18	5438116	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.94929565533261E-4	0.006
18	5438115	A	T	18	5438116	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00747211625549775	0.078
18	5438116	G	A	18	5438117	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.36622555170026E-5	0.0
18	5438116	G	C	18	5438117	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.86433192897924E-5	0.022
18	5438116	G	T	18	5438117	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.09522928730826E-5	0.056
18	5438117	G	A	18	5438118	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.55349111283438E-5	0.002
18	5438117	G	C	18	5438118	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.77338749870217E-4	0.1
18	5438117	G	T	18	5438118	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.40254773276992E-4	0.008
18	5438118	A	C	18	5438119	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999589657520996	0.92
18	5438118	A	G	18	5438119	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00587699833096816	0.104
18	5438118	A	T	18	5438119	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0567314019652747	0.392
18	5438119	T	A	18	5438120	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.10633290522357E-5	0.002
18	5438119	T	C	18	5438120	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.96651791541832E-5	0.0
18	5438119	T	G	18	5438120	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.31119897898533E-5	0.0
18	5438120	G	A	18	5438121	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.79453010175349E-5	0.006
18	5438120	G	C	18	5438121	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.26373079068998E-5	0.016
18	5438120	G	T	18	5438121	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.1049177847123E-4	0.01
18	5438121	G	A	18	5438122	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.08371036223137E-4	0.004
18	5438121	G	C	18	5438122	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.83723222388963E-4	0.028
18	5438121	G	T	18	5438122	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.14126647077418E-4	0.058
18	5443829	G	A	18	5443830	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.17194354623992E-5	0.006
18	5443829	G	C	18	5443830	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.17194354623992E-5	0.012
18	5443829	G	T	18	5443830	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.19170654774044E-4	0.012
18	5443830	A	C	18	5443831	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00130405360385066	0.018
18	5443830	A	G	18	5443831	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00130405360385066	0.014
18	5443830	A	T	18	5443831	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00158195881612626	0.016
18	5443831	A	C	18	5443832	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.973336389734741	0.808
18	5443831	A	G	18	5443832	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.982410266617153	0.798
18	5443831	A	T	18	5443832	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.991641727337522	0.758
18	5443832	C	A	18	5443833	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999890051932562	0.94
18	5443832	C	G	18	5443833	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999382976450429	0.992
18	5443832	C	T	18	5443833	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.99951714086305	0.894
18	5443833	T	A	18	5443834	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998938326975071	0.882
18	5443833	T	C	18	5443834	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999417969262036	0.948
18	5443833	T	G	18	5443834	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997827551317228	0.894
18	5443834	T	A	18	5443835	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999877719042086	0.964
18	5443834	T	C	18	5443835	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.985097433632894	0.622
18	5443834	T	G	18	5443835	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999939239704193	0.932
18	5443835	A	C	18	5443836	y	y	splicing	EPB41L3(NM_001281535:exon8:c.202+2T>G;NM_001281533:exon6:c.529+2T>G;NM_012307:exon6:c.529+2T>G;NM_001281534:exon6:c.529+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.529+2T>G;ENST00000544123:exon6:c.529+2T>G;ENST00000540638:exon6:c.529+2T>G;ENST00000400111:exon6:c.529+2T>G;ENST00000342933:exon6:c.529+2T>G)	.	.	0.999989917668626	0.928
18	5443835	A	G	18	5443836	y	y	splicing	EPB41L3(NM_001281535:exon8:c.202+2T>C;NM_001281533:exon6:c.529+2T>C;NM_012307:exon6:c.529+2T>C;NM_001281534:exon6:c.529+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.529+2T>C;ENST00000544123:exon6:c.529+2T>C;ENST00000540638:exon6:c.529+2T>C;ENST00000400111:exon6:c.529+2T>C;ENST00000342933:exon6:c.529+2T>C)	.	.	0.992535761479193	0.65
18	5443835	A	T	18	5443836	y	y	splicing	EPB41L3(NM_001281535:exon8:c.202+2T>A;NM_001281533:exon6:c.529+2T>A;NM_012307:exon6:c.529+2T>A;NM_001281534:exon6:c.529+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.529+2T>A;ENST00000544123:exon6:c.529+2T>A;ENST00000540638:exon6:c.529+2T>A;ENST00000400111:exon6:c.529+2T>A;ENST00000342933:exon6:c.529+2T>A)	.	.	0.999989917668626	0.928
18	5443836	C	A	18	5443837	y	y	splicing	EPB41L3(NM_001281535:exon8:c.202+1G>T;NM_001281533:exon6:c.529+1G>T;NM_012307:exon6:c.529+1G>T;NM_001281534:exon6:c.529+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.529+1G>T;ENST00000544123:exon6:c.529+1G>T;ENST00000540638:exon6:c.529+1G>T;ENST00000400111:exon6:c.529+1G>T;ENST00000342933:exon6:c.529+1G>T)	.	.	0.999981760802075	0.938
18	5443836	C	G	18	5443837	y	y	splicing	EPB41L3(NM_001281535:exon8:c.202+1G>C;NM_001281533:exon6:c.529+1G>C;NM_012307:exon6:c.529+1G>C;NM_001281534:exon6:c.529+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.529+1G>C;ENST00000544123:exon6:c.529+1G>C;ENST00000540638:exon6:c.529+1G>C;ENST00000400111:exon6:c.529+1G>C;ENST00000342933:exon6:c.529+1G>C)	.	.	0.999981760802075	0.938
18	5443836	C	T	18	5443837	y	y	splicing	EPB41L3(NM_001281535:exon8:c.202+1G>A;NM_001281533:exon6:c.529+1G>A;NM_012307:exon6:c.529+1G>A;NM_001281534:exon6:c.529+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.529+1G>A;ENST00000544123:exon6:c.529+1G>A;ENST00000540638:exon6:c.529+1G>A;ENST00000400111:exon6:c.529+1G>A;ENST00000342933:exon6:c.529+1G>A)	.	.	0.999981760802075	0.938
18	5443837	T	A	18	5443838	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A529T:p.S177C;EPB41L3:NM_001281533:exon5:c.A529T:p.S177C;EPB41L3:NM_001281535:exon7:c.A202T:p.S68C;EPB41L3:NM_012307:exon5:c.A529T:p.S177C;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A529T:p.S177C;ENSG00000082397:ENST00000341928:exon5:c.A529T:p.S177C;ENSG00000082397:ENST00000544123:exon5:c.A529T:p.S177C;ENSG00000082397:ENST00000540638:exon5:c.A529T:p.S177C;ENSG00000082397:ENST00000400111:exon5:c.A529T:p.S177C;	0.570273025874311	0.528
18	5443837	T	C	18	5443838	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A529G:p.S177G;EPB41L3:NM_001281533:exon5:c.A529G:p.S177G;EPB41L3:NM_001281535:exon7:c.A202G:p.S68G;EPB41L3:NM_012307:exon5:c.A529G:p.S177G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A529G:p.S177G;ENSG00000082397:ENST00000341928:exon5:c.A529G:p.S177G;ENSG00000082397:ENST00000544123:exon5:c.A529G:p.S177G;ENSG00000082397:ENST00000540638:exon5:c.A529G:p.S177G;ENSG00000082397:ENST00000400111:exon5:c.A529G:p.S177G;	0.00103166272754876	0.032
18	5443837	T	G	18	5443838	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A529C:p.S177R;EPB41L3:NM_001281533:exon5:c.A529C:p.S177R;EPB41L3:NM_001281535:exon7:c.A202C:p.S68R;EPB41L3:NM_012307:exon5:c.A529C:p.S177R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A529C:p.S177R;ENSG00000082397:ENST00000341928:exon5:c.A529C:p.S177R;ENSG00000082397:ENST00000544123:exon5:c.A529C:p.S177R;ENSG00000082397:ENST00000540638:exon5:c.A529C:p.S177R;ENSG00000082397:ENST00000400111:exon5:c.A529C:p.S177R;	0.667520369898418	0.746
18	5443838	T	A	18	5443839	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon5:c.A528T:p.R176R;EPB41L3:NM_001281533:exon5:c.A528T:p.R176R;EPB41L3:NM_001281535:exon7:c.A201T:p.R67R;EPB41L3:NM_012307:exon5:c.A528T:p.R176R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A528T:p.R176R;ENSG00000082397:ENST00000341928:exon5:c.A528T:p.R176R;ENSG00000082397:ENST00000544123:exon5:c.A528T:p.R176R;ENSG00000082397:ENST00000540638:exon5:c.A528T:p.R176R;ENSG00000082397:ENST00000400111:exon5:c.A528T:p.R176R;	0.422707841378095	0.56
18	5443838	T	C	18	5443839	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon5:c.A528G:p.R176R;EPB41L3:NM_001281533:exon5:c.A528G:p.R176R;EPB41L3:NM_001281535:exon7:c.A201G:p.R67R;EPB41L3:NM_012307:exon5:c.A528G:p.R176R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A528G:p.R176R;ENSG00000082397:ENST00000341928:exon5:c.A528G:p.R176R;ENSG00000082397:ENST00000544123:exon5:c.A528G:p.R176R;ENSG00000082397:ENST00000540638:exon5:c.A528G:p.R176R;ENSG00000082397:ENST00000400111:exon5:c.A528G:p.R176R;	0.309262285886064	0.478
18	5443838	T	G	18	5443839	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon5:c.A528C:p.R176R;EPB41L3:NM_001281533:exon5:c.A528C:p.R176R;EPB41L3:NM_001281535:exon7:c.A201C:p.R67R;EPB41L3:NM_012307:exon5:c.A528C:p.R176R;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A528C:p.R176R;ENSG00000082397:ENST00000341928:exon5:c.A528C:p.R176R;ENSG00000082397:ENST00000544123:exon5:c.A528C:p.R176R;ENSG00000082397:ENST00000540638:exon5:c.A528C:p.R176R;ENSG00000082397:ENST00000400111:exon5:c.A528C:p.R176R;	0.287778756420682	0.548
18	5443839	C	A	18	5443840	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.G527T:p.R176L;EPB41L3:NM_001281533:exon5:c.G527T:p.R176L;EPB41L3:NM_001281535:exon7:c.G200T:p.R67L;EPB41L3:NM_012307:exon5:c.G527T:p.R176L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.G527T:p.R176L;ENSG00000082397:ENST00000341928:exon5:c.G527T:p.R176L;ENSG00000082397:ENST00000544123:exon5:c.G527T:p.R176L;ENSG00000082397:ENST00000540638:exon5:c.G527T:p.R176L;ENSG00000082397:ENST00000400111:exon5:c.G527T:p.R176L;	0.993313589520711	0.87
18	5443839	C	G	18	5443840	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.G527C:p.R176P;EPB41L3:NM_001281533:exon5:c.G527C:p.R176P;EPB41L3:NM_001281535:exon7:c.G200C:p.R67P;EPB41L3:NM_012307:exon5:c.G527C:p.R176P;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.G527C:p.R176P;ENSG00000082397:ENST00000341928:exon5:c.G527C:p.R176P;ENSG00000082397:ENST00000544123:exon5:c.G527C:p.R176P;ENSG00000082397:ENST00000540638:exon5:c.G527C:p.R176P;ENSG00000082397:ENST00000400111:exon5:c.G527C:p.R176P;	0.939477738037073	0.8
18	5443839	C	T	18	5443840	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.G527A:p.R176Q;EPB41L3:NM_001281533:exon5:c.G527A:p.R176Q;EPB41L3:NM_001281535:exon7:c.G200A:p.R67Q;EPB41L3:NM_012307:exon5:c.G527A:p.R176Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.G527A:p.R176Q;ENSG00000082397:ENST00000341928:exon5:c.G527A:p.R176Q;ENSG00000082397:ENST00000544123:exon5:c.G527A:p.R176Q;ENSG00000082397:ENST00000540638:exon5:c.G527A:p.R176Q;ENSG00000082397:ENST00000400111:exon5:c.G527A:p.R176Q;	0.932925231907654	0.766
18	5443878	T	A	18	5443879	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A488T:p.N163I;EPB41L3:NM_001281533:exon5:c.A488T:p.N163I;EPB41L3:NM_001281535:exon7:c.A161T:p.N54I;EPB41L3:NM_012307:exon5:c.A488T:p.N163I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A488T:p.N163I;ENSG00000082397:ENST00000341928:exon5:c.A488T:p.N163I;ENSG00000082397:ENST00000544123:exon5:c.A488T:p.N163I;ENSG00000082397:ENST00000540638:exon5:c.A488T:p.N163I;ENSG00000082397:ENST00000400111:exon5:c.A488T:p.N163I;	0.813759330596654	0.808
18	5443878	T	C	18	5443879	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A488G:p.N163S;EPB41L3:NM_001281533:exon5:c.A488G:p.N163S;EPB41L3:NM_001281535:exon7:c.A161G:p.N54S;EPB41L3:NM_012307:exon5:c.A488G:p.N163S;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A488G:p.N163S;ENSG00000082397:ENST00000341928:exon5:c.A488G:p.N163S;ENSG00000082397:ENST00000544123:exon5:c.A488G:p.N163S;ENSG00000082397:ENST00000540638:exon5:c.A488G:p.N163S;ENSG00000082397:ENST00000400111:exon5:c.A488G:p.N163S;	0.890073662784506	0.788
18	5443878	T	G	18	5443879	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A488C:p.N163T;EPB41L3:NM_001281533:exon5:c.A488C:p.N163T;EPB41L3:NM_001281535:exon7:c.A161C:p.N54T;EPB41L3:NM_012307:exon5:c.A488C:p.N163T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A488C:p.N163T;ENSG00000082397:ENST00000341928:exon5:c.A488C:p.N163T;ENSG00000082397:ENST00000544123:exon5:c.A488C:p.N163T;ENSG00000082397:ENST00000540638:exon5:c.A488C:p.N163T;ENSG00000082397:ENST00000400111:exon5:c.A488C:p.N163T;	0.894480466094253	0.806
18	5443879	T	A	18	5443880	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A487T:p.N163Y;EPB41L3:NM_001281533:exon5:c.A487T:p.N163Y;EPB41L3:NM_001281535:exon7:c.A160T:p.N54Y;EPB41L3:NM_012307:exon5:c.A487T:p.N163Y;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A487T:p.N163Y;ENSG00000082397:ENST00000341928:exon5:c.A487T:p.N163Y;ENSG00000082397:ENST00000544123:exon5:c.A487T:p.N163Y;ENSG00000082397:ENST00000540638:exon5:c.A487T:p.N163Y;ENSG00000082397:ENST00000400111:exon5:c.A487T:p.N163Y;	0.669567592726161	0.566
18	5443879	T	C	18	5443880	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A487G:p.N163D;EPB41L3:NM_001281533:exon5:c.A487G:p.N163D;EPB41L3:NM_001281535:exon7:c.A160G:p.N54D;EPB41L3:NM_012307:exon5:c.A487G:p.N163D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A487G:p.N163D;ENSG00000082397:ENST00000341928:exon5:c.A487G:p.N163D;ENSG00000082397:ENST00000544123:exon5:c.A487G:p.N163D;ENSG00000082397:ENST00000540638:exon5:c.A487G:p.N163D;ENSG00000082397:ENST00000400111:exon5:c.A487G:p.N163D;	0.569223437668226	0.732
18	5443879	T	G	18	5443880	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon5:c.A487C:p.N163H;EPB41L3:NM_001281533:exon5:c.A487C:p.N163H;EPB41L3:NM_001281535:exon7:c.A160C:p.N54H;EPB41L3:NM_012307:exon5:c.A487C:p.N163H;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000342933:exon5:c.A487C:p.N163H;ENSG00000082397:ENST00000341928:exon5:c.A487C:p.N163H;ENSG00000082397:ENST00000544123:exon5:c.A487C:p.N163H;ENSG00000082397:ENST00000540638:exon5:c.A487C:p.N163H;ENSG00000082397:ENST00000400111:exon5:c.A487C:p.N163H;	0.702122401518336	0.572
18	5443880	C	A	18	5443881	y	y	splicing	EPB41L3(NM_001281535:exon8:c.160-1G>T;NM_001281533:exon6:c.487-1G>T;NM_012307:exon6:c.487-1G>T;NM_001281534:exon6:c.487-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.487-1G>T;ENST00000544123:exon6:c.487-1G>T;ENST00000540638:exon6:c.487-1G>T;ENST00000400111:exon6:c.487-1G>T;ENST00000342933:exon6:c.487-1G>T)	.	.	0.999989483462543	0.936
18	5443880	C	G	18	5443881	y	y	splicing	EPB41L3(NM_001281535:exon8:c.160-1G>C;NM_001281533:exon6:c.487-1G>C;NM_012307:exon6:c.487-1G>C;NM_001281534:exon6:c.487-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.487-1G>C;ENST00000544123:exon6:c.487-1G>C;ENST00000540638:exon6:c.487-1G>C;ENST00000400111:exon6:c.487-1G>C;ENST00000342933:exon6:c.487-1G>C)	.	.	0.999989483462543	0.936
18	5443880	C	T	18	5443881	y	y	splicing	EPB41L3(NM_001281535:exon8:c.160-1G>A;NM_001281533:exon6:c.487-1G>A;NM_012307:exon6:c.487-1G>A;NM_001281534:exon6:c.487-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.487-1G>A;ENST00000544123:exon6:c.487-1G>A;ENST00000540638:exon6:c.487-1G>A;ENST00000400111:exon6:c.487-1G>A;ENST00000342933:exon6:c.487-1G>A)	.	.	0.999989483462543	0.936
18	5443881	T	A	18	5443882	y	y	splicing	EPB41L3(NM_001281535:exon8:c.160-2A>T;NM_001281533:exon6:c.487-2A>T;NM_012307:exon6:c.487-2A>T;NM_001281534:exon6:c.487-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.487-2A>T;ENST00000544123:exon6:c.487-2A>T;ENST00000540638:exon6:c.487-2A>T;ENST00000400111:exon6:c.487-2A>T;ENST00000342933:exon6:c.487-2A>T)	.	.	0.999988247793601	0.928
18	5443881	T	C	18	5443882	y	y	splicing	EPB41L3(NM_001281535:exon8:c.160-2A>G;NM_001281533:exon6:c.487-2A>G;NM_012307:exon6:c.487-2A>G;NM_001281534:exon6:c.487-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.487-2A>G;ENST00000544123:exon6:c.487-2A>G;ENST00000540638:exon6:c.487-2A>G;ENST00000400111:exon6:c.487-2A>G;ENST00000342933:exon6:c.487-2A>G)	.	.	0.999988247793601	0.928
18	5443881	T	G	18	5443882	y	y	splicing	EPB41L3(NM_001281535:exon8:c.160-2A>C;NM_001281533:exon6:c.487-2A>C;NM_012307:exon6:c.487-2A>C;NM_001281534:exon6:c.487-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon6:c.487-2A>C;ENST00000544123:exon6:c.487-2A>C;ENST00000540638:exon6:c.487-2A>C;ENST00000400111:exon6:c.487-2A>C;ENST00000342933:exon6:c.487-2A>C)	.	.	0.999988247793601	0.928
18	5443882	G	A	18	5443883	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0226660836774246	0.062
18	5443882	G	C	18	5443883	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998886692692827	0.824
18	5443882	G	T	18	5443883	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.972904973880896	0.83
18	5443883	A	C	18	5443884	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.97693158184472E-4	0.0
18	5443883	A	G	18	5443884	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.7519740143685E-4	0.014
18	5443883	A	T	18	5443884	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.60836034322975E-4	0.018
18	5443884	A	C	18	5443885	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.982269937860083	0.704
18	5443884	A	G	18	5443885	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.788900712078165	0.43
18	5443884	A	T	18	5443885	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995414515213406	0.672
18	5443885	A	C	18	5443886	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.7577901450756	0.486
18	5443885	A	G	18	5443886	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0208229561761509	0.42
18	5443885	A	T	18	5443886	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.728932417833432	0.516
18	5443886	A	C	18	5443887	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.142573889662565	0.258
18	5443886	A	G	18	5443887	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0035528165288556	0.152
18	5443886	A	T	18	5443887	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.47998071815423	0.338
18	5443887	G	A	18	5443888	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.24765829253694E-5	0.008
18	5443887	G	C	18	5443888	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00123012899632088	0.1
18	5443887	G	T	18	5443888	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00284895266772835	0.132
18	5443888	G	A	18	5443889	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.297751088834343	0.526
18	5443888	G	C	18	5443889	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.124050008927927	0.344
18	5443888	G	T	18	5443889	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.139589316594921	0.344
18	5443889	A	C	18	5443890	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.894508786255324	0.55
18	5443889	A	G	18	5443890	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.334808583695558	0.464
18	5443889	A	T	18	5443890	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.952302472059183	0.576
18	5443890	A	C	18	5443891	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.981801429717029	0.65
18	5443890	A	G	18	5443891	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.887284215328098	0.508
18	5443890	A	T	18	5443891	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.984602076768923	0.7
18	5443891	A	C	18	5443892	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999953058153598	0.97
18	5443891	A	G	18	5443892	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.25949291702467E-5	0.096
18	5443891	A	T	18	5443892	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00420815646460857	0.226
18	5445131	T	A	18	5445132	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.3410990456425E-4	0.0
18	5445131	T	C	18	5445132	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.80018259252686E-4	0.012
18	5445131	T	G	18	5445132	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.80018259252686E-4	0.002
18	5445132	C	A	18	5445133	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.33785764589345E-5	0.002
18	5445132	C	G	18	5445133	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.94335340726826E-5	0.0
18	5445132	C	T	18	5445133	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.21529809431356E-5	0.0
18	5445133	A	C	18	5445134	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00102514681560439	0.052
18	5445133	A	G	18	5445134	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.58293263095491E-4	0.074
18	5445133	A	T	18	5445134	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00579649076721555	0.072
18	5445134	C	A	18	5445135	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997943912448542	0.84
18	5445134	C	G	18	5445135	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.993699711277873	0.828
18	5445134	C	T	18	5445135	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.995809460599494	0.828
18	5445135	T	A	18	5445136	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.960234260047336	0.538
18	5445135	T	C	18	5445136	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.955186882124052	0.548
18	5445135	T	G	18	5445136	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.556926477156518	0.312
18	5445136	C	A	18	5445137	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0119969488402808	0.276
18	5445136	C	G	18	5445137	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.040164637038322	0.342
18	5445136	C	T	18	5445137	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.73507123675617E-5	0.0
18	5445137	A	C	18	5445138	y	y	splicing	EPB41L3(NM_001281535:exon7:c.159+2T>G;NM_001281533:exon5:c.486+2T>G;NM_012307:exon5:c.486+2T>G;NM_001281534:exon5:c.486+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.486+2T>G;ENST00000544123:exon5:c.486+2T>G;ENST00000540638:exon5:c.486+2T>G;ENST00000400111:exon5:c.486+2T>G;ENST00000342933:exon5:c.486+2T>G)	.	.	0.999992446697775	0.932
18	5445137	A	G	18	5445138	y	y	splicing	EPB41L3(NM_001281535:exon7:c.159+2T>C;NM_001281533:exon5:c.486+2T>C;NM_012307:exon5:c.486+2T>C;NM_001281534:exon5:c.486+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.486+2T>C;ENST00000544123:exon5:c.486+2T>C;ENST00000540638:exon5:c.486+2T>C;ENST00000400111:exon5:c.486+2T>C;ENST00000342933:exon5:c.486+2T>C)	.	.	0.999951700573546	0.856
18	5445137	A	T	18	5445138	y	y	splicing	EPB41L3(NM_001281535:exon7:c.159+2T>A;NM_001281533:exon5:c.486+2T>A;NM_012307:exon5:c.486+2T>A;NM_001281534:exon5:c.486+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.486+2T>A;ENST00000544123:exon5:c.486+2T>A;ENST00000540638:exon5:c.486+2T>A;ENST00000400111:exon5:c.486+2T>A;ENST00000342933:exon5:c.486+2T>A)	.	.	0.999992446697775	0.932
18	5445138	C	A	18	5445139	y	y	splicing	EPB41L3(NM_001281535:exon7:c.159+1G>T;NM_001281533:exon5:c.486+1G>T;NM_012307:exon5:c.486+1G>T;NM_001281534:exon5:c.486+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.486+1G>T;ENST00000544123:exon5:c.486+1G>T;ENST00000540638:exon5:c.486+1G>T;ENST00000400111:exon5:c.486+1G>T;ENST00000342933:exon5:c.486+1G>T)	.	.	0.999990361384395	0.926
18	5445138	C	G	18	5445139	y	y	splicing	EPB41L3(NM_001281535:exon7:c.159+1G>C;NM_001281533:exon5:c.486+1G>C;NM_012307:exon5:c.486+1G>C;NM_001281534:exon5:c.486+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.486+1G>C;ENST00000544123:exon5:c.486+1G>C;ENST00000540638:exon5:c.486+1G>C;ENST00000400111:exon5:c.486+1G>C;ENST00000342933:exon5:c.486+1G>C)	.	.	0.999990361384395	0.926
18	5445138	C	T	18	5445139	y	y	splicing	EPB41L3(NM_001281535:exon7:c.159+1G>A;NM_001281533:exon5:c.486+1G>A;NM_012307:exon5:c.486+1G>A;NM_001281534:exon5:c.486+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.486+1G>A;ENST00000544123:exon5:c.486+1G>A;ENST00000540638:exon5:c.486+1G>A;ENST00000400111:exon5:c.486+1G>A;ENST00000342933:exon5:c.486+1G>A)	.	.	0.999990361384395	0.926
18	5445139	C	A	18	5445140	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.G486T:p.K162N;EPB41L3:NM_001281533:exon4:c.G486T:p.K162N;EPB41L3:NM_001281535:exon6:c.G159T:p.K53N;EPB41L3:NM_012307:exon4:c.G486T:p.K162N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.G486T:p.K162N;ENSG00000082397:ENST00000342933:exon4:c.G486T:p.K162N;ENSG00000082397:ENST00000341928:exon4:c.G486T:p.K162N;ENSG00000082397:ENST00000544123:exon4:c.G486T:p.K162N;ENSG00000082397:ENST00000540638:exon4:c.G486T:p.K162N;ENSG00000082397:ENST00000578503:exon3:c.G486T:p.K162N;ENSG00000082397:ENST00000400111:exon4:c.G486T:p.K162N;	0.9996400335425	0.956
18	5445139	C	G	18	5445140	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.G486C:p.K162N;EPB41L3:NM_001281533:exon4:c.G486C:p.K162N;EPB41L3:NM_001281535:exon6:c.G159C:p.K53N;EPB41L3:NM_012307:exon4:c.G486C:p.K162N;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.G486C:p.K162N;ENSG00000082397:ENST00000342933:exon4:c.G486C:p.K162N;ENSG00000082397:ENST00000341928:exon4:c.G486C:p.K162N;ENSG00000082397:ENST00000544123:exon4:c.G486C:p.K162N;ENSG00000082397:ENST00000540638:exon4:c.G486C:p.K162N;ENSG00000082397:ENST00000578503:exon3:c.G486C:p.K162N;ENSG00000082397:ENST00000400111:exon4:c.G486C:p.K162N;	0.999896889105525	0.946
18	5445139	C	T	18	5445140	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon4:c.G486A:p.K162K;EPB41L3:NM_001281533:exon4:c.G486A:p.K162K;EPB41L3:NM_001281535:exon6:c.G159A:p.K53K;EPB41L3:NM_012307:exon4:c.G486A:p.K162K;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.G486A:p.K162K;ENSG00000082397:ENST00000342933:exon4:c.G486A:p.K162K;ENSG00000082397:ENST00000341928:exon4:c.G486A:p.K162K;ENSG00000082397:ENST00000544123:exon4:c.G486A:p.K162K;ENSG00000082397:ENST00000540638:exon4:c.G486A:p.K162K;ENSG00000082397:ENST00000578503:exon3:c.G486A:p.K162K;ENSG00000082397:ENST00000400111:exon4:c.G486A:p.K162K;	0.999911726420508	0.896
18	5445140	T	A	18	5445141	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A485T:p.K162M;EPB41L3:NM_001281533:exon4:c.A485T:p.K162M;EPB41L3:NM_001281535:exon6:c.A158T:p.K53M;EPB41L3:NM_012307:exon4:c.A485T:p.K162M;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A485T:p.K162M;ENSG00000082397:ENST00000342933:exon4:c.A485T:p.K162M;ENSG00000082397:ENST00000341928:exon4:c.A485T:p.K162M;ENSG00000082397:ENST00000544123:exon4:c.A485T:p.K162M;ENSG00000082397:ENST00000540638:exon4:c.A485T:p.K162M;ENSG00000082397:ENST00000578503:exon3:c.A485T:p.K162M;ENSG00000082397:ENST00000400111:exon4:c.A485T:p.K162M;	0.988960737396921	0.628
18	5445140	T	C	18	5445141	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A485G:p.K162R;EPB41L3:NM_001281533:exon4:c.A485G:p.K162R;EPB41L3:NM_001281535:exon6:c.A158G:p.K53R;EPB41L3:NM_012307:exon4:c.A485G:p.K162R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A485G:p.K162R;ENSG00000082397:ENST00000342933:exon4:c.A485G:p.K162R;ENSG00000082397:ENST00000341928:exon4:c.A485G:p.K162R;ENSG00000082397:ENST00000544123:exon4:c.A485G:p.K162R;ENSG00000082397:ENST00000540638:exon4:c.A485G:p.K162R;ENSG00000082397:ENST00000578503:exon3:c.A485G:p.K162R;ENSG00000082397:ENST00000400111:exon4:c.A485G:p.K162R;	0.989059623075622	0.844
18	5445140	T	G	18	5445141	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A485C:p.K162T;EPB41L3:NM_001281533:exon4:c.A485C:p.K162T;EPB41L3:NM_001281535:exon6:c.A158C:p.K53T;EPB41L3:NM_012307:exon4:c.A485C:p.K162T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A485C:p.K162T;ENSG00000082397:ENST00000342933:exon4:c.A485C:p.K162T;ENSG00000082397:ENST00000341928:exon4:c.A485C:p.K162T;ENSG00000082397:ENST00000544123:exon4:c.A485C:p.K162T;ENSG00000082397:ENST00000540638:exon4:c.A485C:p.K162T;ENSG00000082397:ENST00000578503:exon3:c.A485C:p.K162T;ENSG00000082397:ENST00000400111:exon4:c.A485C:p.K162T;	0.988960737396921	0.792
18	5445141	T	A	18	5445142	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon4:c.A484T:p.K162X;EPB41L3:NM_001281533:exon4:c.A484T:p.K162X;EPB41L3:NM_001281535:exon6:c.A157T:p.K53X;EPB41L3:NM_012307:exon4:c.A484T:p.K162X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000584651:exon4:c.A484T:p.K162X;ENSG00000082397:ENST00000342933:exon4:c.A484T:p.K162X;ENSG00000082397:ENST00000341928:exon4:c.A484T:p.K162X;ENSG00000082397:ENST00000544123:exon4:c.A484T:p.K162X;ENSG00000082397:ENST00000540638:exon4:c.A484T:p.K162X;ENSG00000082397:ENST00000578503:exon3:c.A484T:p.K162X;ENSG00000082397:ENST00000400111:exon4:c.A484T:p.K162X;	0.921240395905119	0.61
18	5445141	T	C	18	5445142	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A484G:p.K162E;EPB41L3:NM_001281533:exon4:c.A484G:p.K162E;EPB41L3:NM_001281535:exon6:c.A157G:p.K53E;EPB41L3:NM_012307:exon4:c.A484G:p.K162E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A484G:p.K162E;ENSG00000082397:ENST00000342933:exon4:c.A484G:p.K162E;ENSG00000082397:ENST00000341928:exon4:c.A484G:p.K162E;ENSG00000082397:ENST00000544123:exon4:c.A484G:p.K162E;ENSG00000082397:ENST00000540638:exon4:c.A484G:p.K162E;ENSG00000082397:ENST00000578503:exon3:c.A484G:p.K162E;ENSG00000082397:ENST00000400111:exon4:c.A484G:p.K162E;	0.228345718039326	0.394
18	5445141	T	G	18	5445142	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A484C:p.K162Q;EPB41L3:NM_001281533:exon4:c.A484C:p.K162Q;EPB41L3:NM_001281535:exon6:c.A157C:p.K53Q;EPB41L3:NM_012307:exon4:c.A484C:p.K162Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A484C:p.K162Q;ENSG00000082397:ENST00000342933:exon4:c.A484C:p.K162Q;ENSG00000082397:ENST00000341928:exon4:c.A484C:p.K162Q;ENSG00000082397:ENST00000544123:exon4:c.A484C:p.K162Q;ENSG00000082397:ENST00000540638:exon4:c.A484C:p.K162Q;ENSG00000082397:ENST00000578503:exon3:c.A484C:p.K162Q;ENSG00000082397:ENST00000400111:exon4:c.A484C:p.K162Q;	0.676311014926634	0.588
18	5445242	T	A	18	5445243	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A383T:p.K128I;EPB41L3:NM_001281533:exon4:c.A383T:p.K128I;EPB41L3:NM_001281535:exon6:c.A56T:p.K19I;EPB41L3:NM_012307:exon4:c.A383T:p.K128I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A383T:p.K128I;ENSG00000082397:ENST00000342933:exon4:c.A383T:p.K128I;ENSG00000082397:ENST00000341928:exon4:c.A383T:p.K128I;ENSG00000082397:ENST00000544123:exon4:c.A383T:p.K128I;ENSG00000082397:ENST00000540638:exon4:c.A383T:p.K128I;ENSG00000082397:ENST00000578503:exon3:c.A383T:p.K128I;ENSG00000082397:ENST00000400111:exon4:c.A383T:p.K128I;	0.874079963382773	0.734
18	5445242	T	C	18	5445243	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A383G:p.K128R;EPB41L3:NM_001281533:exon4:c.A383G:p.K128R;EPB41L3:NM_001281535:exon6:c.A56G:p.K19R;EPB41L3:NM_012307:exon4:c.A383G:p.K128R;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A383G:p.K128R;ENSG00000082397:ENST00000342933:exon4:c.A383G:p.K128R;ENSG00000082397:ENST00000341928:exon4:c.A383G:p.K128R;ENSG00000082397:ENST00000544123:exon4:c.A383G:p.K128R;ENSG00000082397:ENST00000540638:exon4:c.A383G:p.K128R;ENSG00000082397:ENST00000578503:exon3:c.A383G:p.K128R;ENSG00000082397:ENST00000400111:exon4:c.A383G:p.K128R;	0.908843563685239	0.714
18	5445242	T	G	18	5445243	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A383C:p.K128T;EPB41L3:NM_001281533:exon4:c.A383C:p.K128T;EPB41L3:NM_001281535:exon6:c.A56C:p.K19T;EPB41L3:NM_012307:exon4:c.A383C:p.K128T;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A383C:p.K128T;ENSG00000082397:ENST00000342933:exon4:c.A383C:p.K128T;ENSG00000082397:ENST00000341928:exon4:c.A383C:p.K128T;ENSG00000082397:ENST00000544123:exon4:c.A383C:p.K128T;ENSG00000082397:ENST00000540638:exon4:c.A383C:p.K128T;ENSG00000082397:ENST00000578503:exon3:c.A383C:p.K128T;ENSG00000082397:ENST00000400111:exon4:c.A383C:p.K128T;	0.911022751616317	0.782
18	5445243	T	A	18	5445244	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon4:c.A382T:p.K128X;EPB41L3:NM_001281533:exon4:c.A382T:p.K128X;EPB41L3:NM_001281535:exon6:c.A55T:p.K19X;EPB41L3:NM_012307:exon4:c.A382T:p.K128X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000584651:exon4:c.A382T:p.K128X;ENSG00000082397:ENST00000342933:exon4:c.A382T:p.K128X;ENSG00000082397:ENST00000341928:exon4:c.A382T:p.K128X;ENSG00000082397:ENST00000544123:exon4:c.A382T:p.K128X;ENSG00000082397:ENST00000540638:exon4:c.A382T:p.K128X;ENSG00000082397:ENST00000578503:exon3:c.A382T:p.K128X;ENSG00000082397:ENST00000400111:exon4:c.A382T:p.K128X;	0.402844237939693	0.55
18	5445243	T	C	18	5445244	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A382G:p.K128E;EPB41L3:NM_001281533:exon4:c.A382G:p.K128E;EPB41L3:NM_001281535:exon6:c.A55G:p.K19E;EPB41L3:NM_012307:exon4:c.A382G:p.K128E;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A382G:p.K128E;ENSG00000082397:ENST00000342933:exon4:c.A382G:p.K128E;ENSG00000082397:ENST00000341928:exon4:c.A382G:p.K128E;ENSG00000082397:ENST00000544123:exon4:c.A382G:p.K128E;ENSG00000082397:ENST00000540638:exon4:c.A382G:p.K128E;ENSG00000082397:ENST00000578503:exon3:c.A382G:p.K128E;ENSG00000082397:ENST00000400111:exon4:c.A382G:p.K128E;	0.819319743080962	0.628
18	5445243	T	G	18	5445244	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon4:c.A382C:p.K128Q;EPB41L3:NM_001281533:exon4:c.A382C:p.K128Q;EPB41L3:NM_001281535:exon6:c.A55C:p.K19Q;EPB41L3:NM_012307:exon4:c.A382C:p.K128Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584651:exon4:c.A382C:p.K128Q;ENSG00000082397:ENST00000342933:exon4:c.A382C:p.K128Q;ENSG00000082397:ENST00000341928:exon4:c.A382C:p.K128Q;ENSG00000082397:ENST00000544123:exon4:c.A382C:p.K128Q;ENSG00000082397:ENST00000540638:exon4:c.A382C:p.K128Q;ENSG00000082397:ENST00000578503:exon3:c.A382C:p.K128Q;ENSG00000082397:ENST00000400111:exon4:c.A382C:p.K128Q;	0.72775858287121	0.59
18	5445244	C	A	18	5445245	y	y	splicing	EPB41L3(NM_001281535:exon7:c.55-1G>T;NM_001281533:exon5:c.382-1G>T;NM_012307:exon5:c.382-1G>T;NM_001281534:exon5:c.382-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.382-1G>T;ENST00000544123:exon5:c.382-1G>T;ENST00000540638:exon5:c.382-1G>T;ENST00000400111:exon5:c.382-1G>T;ENST00000342933:exon5:c.382-1G>T;ENST00000584651:exon5:c.382-1G>T;ENST00000578503:exon4:c.382-1G>T)	.	.	0.999990361384395	0.928
18	5445244	C	G	18	5445245	y	y	splicing	EPB41L3(NM_001281535:exon7:c.55-1G>C;NM_001281533:exon5:c.382-1G>C;NM_012307:exon5:c.382-1G>C;NM_001281534:exon5:c.382-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.382-1G>C;ENST00000544123:exon5:c.382-1G>C;ENST00000540638:exon5:c.382-1G>C;ENST00000400111:exon5:c.382-1G>C;ENST00000342933:exon5:c.382-1G>C;ENST00000584651:exon5:c.382-1G>C;ENST00000578503:exon4:c.382-1G>C)	.	.	0.999990361384395	0.928
18	5445244	C	T	18	5445245	y	y	splicing	EPB41L3(NM_001281535:exon7:c.55-1G>A;NM_001281533:exon5:c.382-1G>A;NM_012307:exon5:c.382-1G>A;NM_001281534:exon5:c.382-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.382-1G>A;ENST00000544123:exon5:c.382-1G>A;ENST00000540638:exon5:c.382-1G>A;ENST00000400111:exon5:c.382-1G>A;ENST00000342933:exon5:c.382-1G>A;ENST00000584651:exon5:c.382-1G>A;ENST00000578503:exon4:c.382-1G>A)	.	.	0.999990361384395	0.928
18	5445245	T	A	18	5445246	y	y	splicing	EPB41L3(NM_001281535:exon7:c.55-2A>T;NM_001281533:exon5:c.382-2A>T;NM_012307:exon5:c.382-2A>T;NM_001281534:exon5:c.382-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.382-2A>T;ENST00000544123:exon5:c.382-2A>T;ENST00000540638:exon5:c.382-2A>T;ENST00000400111:exon5:c.382-2A>T;ENST00000342933:exon5:c.382-2A>T;ENST00000584651:exon5:c.382-2A>T;ENST00000578503:exon4:c.382-2A>T)	.	.	0.999992446697775	0.932
18	5445245	T	C	18	5445246	y	y	splicing	EPB41L3(NM_001281535:exon7:c.55-2A>G;NM_001281533:exon5:c.382-2A>G;NM_012307:exon5:c.382-2A>G;NM_001281534:exon5:c.382-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.382-2A>G;ENST00000544123:exon5:c.382-2A>G;ENST00000540638:exon5:c.382-2A>G;ENST00000400111:exon5:c.382-2A>G;ENST00000342933:exon5:c.382-2A>G;ENST00000584651:exon5:c.382-2A>G;ENST00000578503:exon4:c.382-2A>G)	.	.	0.999992446697775	0.932
18	5445245	T	G	18	5445246	y	y	splicing	EPB41L3(NM_001281535:exon7:c.55-2A>C;NM_001281533:exon5:c.382-2A>C;NM_012307:exon5:c.382-2A>C;NM_001281534:exon5:c.382-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon5:c.382-2A>C;ENST00000544123:exon5:c.382-2A>C;ENST00000540638:exon5:c.382-2A>C;ENST00000400111:exon5:c.382-2A>C;ENST00000342933:exon5:c.382-2A>C;ENST00000584651:exon5:c.382-2A>C;ENST00000578503:exon4:c.382-2A>C)	.	.	0.999992446697775	0.932
18	5445246	A	C	18	5445247	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.985856837106013	0.71
18	5445246	A	G	18	5445247	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.89131925276481E-4	0.014
18	5445246	A	T	18	5445247	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0329409648413529	0.204
18	5445247	C	A	18	5445248	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.63274890667166E-5	0.0
18	5445247	C	G	18	5445248	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.31362141453498E-5	0.0
18	5445247	C	T	18	5445248	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.85601758981526E-5	0.0
18	5445248	A	C	18	5445249	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0251871538779446	0.192
18	5445248	A	G	18	5445249	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.41000386535891E-4	0.008
18	5445248	A	T	18	5445249	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999769342581276	0.852
18	5445249	G	A	18	5445250	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.07186294459116E-4	0.01
18	5445249	G	C	18	5445250	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0057326094247497	0.142
18	5445249	G	T	18	5445250	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0033887559529668	0.17
18	5445250	A	C	18	5445251	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.903168546429E-4	0.038
18	5445250	A	G	18	5445251	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.59439630841413E-5	0.002
18	5445250	A	T	18	5445251	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.89144002638579E-4	0.014
18	5445251	A	C	18	5445252	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.19797667863217E-4	0.054
18	5445251	A	G	18	5445252	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.31411832406671E-4	0.002
18	5445251	A	T	18	5445252	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00190299295645705	0.072
18	5445252	A	C	18	5445253	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.50579360138875E-4	0.092
18	5445252	A	G	18	5445253	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.81969206016005E-5	0.018
18	5445252	A	T	18	5445253	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.53302026543964E-4	0.064
18	5445253	A	C	18	5445254	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00322218920121491	0.266
18	5445253	A	G	18	5445254	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.20807662002048E-4	0.002
18	5445253	A	T	18	5445254	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00323987922987696	0.194
18	5445254	C	A	18	5445255	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.99517113040136E-5	0.002
18	5445254	C	G	18	5445255	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.67008374649513E-5	0.002
18	5445254	C	T	18	5445255	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.74047622785349E-5	0.0
18	5445255	A	C	18	5445256	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00852616556257393	0.206
18	5445255	A	G	18	5445256	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.70478023013526E-4	0.008
18	5445255	A	T	18	5445256	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999773670521807	0.964
18	5478232	A	C	18	5478233	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	9.39083642728588E-5	0.0
18	5478232	A	G	18	5478233	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	9.39083642728588E-5	0.0
18	5478232	A	T	18	5478233	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	9.39083642728588E-5	0.002
18	5478233	C	A	18	5478234	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	1.12436021442481E-4	0.002
18	5478233	C	G	18	5478234	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	3.48960430882778E-4	0.02
18	5478233	C	T	18	5478234	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	2.05191810124354E-4	0.006
18	5478234	A	C	18	5478235	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	2.74786422089782E-4	0.076
18	5478234	A	G	18	5478235	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00667227017178058	0.106
18	5478234	A	T	18	5478235	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00328167725655247	0.114
18	5478235	C	A	18	5478236	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.432061493075715	0.464
18	5478235	C	G	18	5478236	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.540177479221423	0.442
18	5478235	C	T	18	5478236	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.879285403886011	0.514
18	5478236	T	A	18	5478237	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.144929445370777	0.336
18	5478236	T	C	18	5478237	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.272866380478042	0.284
18	5478236	T	G	18	5478237	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.135219722644167	0.282
18	5478237	T	A	18	5478238	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.73004222161716	0.524
18	5478237	T	C	18	5478238	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00188225904071699	0.096
18	5478237	T	G	18	5478238	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.881235086675705	0.662
18	5478238	A	C	18	5478239	y	y	splicing	EPB41L3(NM_001281535:exon6:c.54+2T>G;NM_001281533:exon4:c.381+2T>G;NM_012307:exon4:c.381+2T>G;NM_001281534:exon4:c.381+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.381+2T>G;ENST00000544123:exon4:c.381+2T>G;ENST00000540638:exon4:c.381+2T>G;ENST00000400111:exon4:c.381+2T>G;ENST00000342933:exon4:c.381+2T>G;ENST00000584651:exon4:c.381+2T>G;ENST00000578503:exon3:c.381+2T>G)	.	.	0.999989917668626	0.926
18	5478238	A	G	18	5478239	y	y	splicing	EPB41L3(NM_001281535:exon6:c.54+2T>C;NM_001281533:exon4:c.381+2T>C;NM_012307:exon4:c.381+2T>C;NM_001281534:exon4:c.381+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.381+2T>C;ENST00000544123:exon4:c.381+2T>C;ENST00000540638:exon4:c.381+2T>C;ENST00000400111:exon4:c.381+2T>C;ENST00000342933:exon4:c.381+2T>C;ENST00000584651:exon4:c.381+2T>C;ENST00000578503:exon3:c.381+2T>C)	.	.	0.990093218783903	0.626
18	5478238	A	T	18	5478239	y	y	splicing	EPB41L3(NM_001281535:exon6:c.54+2T>A;NM_001281533:exon4:c.381+2T>A;NM_012307:exon4:c.381+2T>A;NM_001281534:exon4:c.381+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.381+2T>A;ENST00000544123:exon4:c.381+2T>A;ENST00000540638:exon4:c.381+2T>A;ENST00000400111:exon4:c.381+2T>A;ENST00000342933:exon4:c.381+2T>A;ENST00000584651:exon4:c.381+2T>A;ENST00000578503:exon3:c.381+2T>A)	.	.	0.999989917668626	0.928
18	5478239	C	A	18	5478240	y	y	splicing	EPB41L3(NM_001281535:exon6:c.54+1G>T;NM_001281533:exon4:c.381+1G>T;NM_012307:exon4:c.381+1G>T;NM_001281534:exon4:c.381+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.381+1G>T;ENST00000544123:exon4:c.381+1G>T;ENST00000540638:exon4:c.381+1G>T;ENST00000400111:exon4:c.381+1G>T;ENST00000342933:exon4:c.381+1G>T;ENST00000584651:exon4:c.381+1G>T;ENST00000578503:exon3:c.381+1G>T)	.	.	0.999986675681007	0.936
18	5478239	C	G	18	5478240	y	y	splicing	EPB41L3(NM_001281535:exon6:c.54+1G>C;NM_001281533:exon4:c.381+1G>C;NM_012307:exon4:c.381+1G>C;NM_001281534:exon4:c.381+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.381+1G>C;ENST00000544123:exon4:c.381+1G>C;ENST00000540638:exon4:c.381+1G>C;ENST00000400111:exon4:c.381+1G>C;ENST00000342933:exon4:c.381+1G>C;ENST00000584651:exon4:c.381+1G>C;ENST00000578503:exon3:c.381+1G>C)	.	.	0.999986675681007	0.936
18	5478239	C	T	18	5478240	y	y	splicing	EPB41L3(NM_001281535:exon6:c.54+1G>A;NM_001281533:exon4:c.381+1G>A;NM_012307:exon4:c.381+1G>A;NM_001281534:exon4:c.381+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.381+1G>A;ENST00000544123:exon4:c.381+1G>A;ENST00000540638:exon4:c.381+1G>A;ENST00000400111:exon4:c.381+1G>A;ENST00000342933:exon4:c.381+1G>A;ENST00000584651:exon4:c.381+1G>A;ENST00000578503:exon3:c.381+1G>A)	.	.	0.999986675681007	0.936
18	5478240	C	A	18	5478241	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.G381T:p.E127D;EPB41L3:NM_001281533:exon3:c.G381T:p.E127D;EPB41L3:NM_001281535:exon5:c.G54T:p.E18D;EPB41L3:NM_012307:exon3:c.G381T:p.E127D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000580308:exon3:c.G381T:p.E127D;ENSG00000082397:ENST00000584015:exon3:c.G381T:p.E127D;ENSG00000082397:ENST00000584651:exon3:c.G381T:p.E127D;ENSG00000082397:ENST00000342933:exon3:c.G381T:p.E127D;ENSG00000082397:ENST00000341928:exon3:c.G381T:p.E127D;ENSG00000082397:ENST00000544123:exon3:c.G381T:p.E127D;ENSG00000082397:ENST00000540638:exon3:c.G381T:p.E127D;ENSG00000082397:ENST00000578503:exon2:c.G381T:p.E127D;ENSG00000082397:ENST00000400111:exon3:c.G381T:p.E127D;	0.510155204617068	0.446
18	5478240	C	G	18	5478241	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.G381C:p.E127D;EPB41L3:NM_001281533:exon3:c.G381C:p.E127D;EPB41L3:NM_001281535:exon5:c.G54C:p.E18D;EPB41L3:NM_012307:exon3:c.G381C:p.E127D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000580308:exon3:c.G381C:p.E127D;ENSG00000082397:ENST00000584015:exon3:c.G381C:p.E127D;ENSG00000082397:ENST00000584651:exon3:c.G381C:p.E127D;ENSG00000082397:ENST00000342933:exon3:c.G381C:p.E127D;ENSG00000082397:ENST00000341928:exon3:c.G381C:p.E127D;ENSG00000082397:ENST00000544123:exon3:c.G381C:p.E127D;ENSG00000082397:ENST00000540638:exon3:c.G381C:p.E127D;ENSG00000082397:ENST00000578503:exon2:c.G381C:p.E127D;ENSG00000082397:ENST00000400111:exon3:c.G381C:p.E127D;	0.670190113475201	0.576
18	5478240	C	T	18	5478241	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon3:c.G381A:p.E127E;EPB41L3:NM_001281533:exon3:c.G381A:p.E127E;EPB41L3:NM_001281535:exon5:c.G54A:p.E18E;EPB41L3:NM_012307:exon3:c.G381A:p.E127E;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000580308:exon3:c.G381A:p.E127E;ENSG00000082397:ENST00000584015:exon3:c.G381A:p.E127E;ENSG00000082397:ENST00000584651:exon3:c.G381A:p.E127E;ENSG00000082397:ENST00000342933:exon3:c.G381A:p.E127E;ENSG00000082397:ENST00000341928:exon3:c.G381A:p.E127E;ENSG00000082397:ENST00000544123:exon3:c.G381A:p.E127E;ENSG00000082397:ENST00000540638:exon3:c.G381A:p.E127E;ENSG00000082397:ENST00000578503:exon2:c.G381A:p.E127E;ENSG00000082397:ENST00000400111:exon3:c.G381A:p.E127E;	0.136942769977926	0.304
18	5478241	T	A	18	5478242	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.A380T:p.E127V;EPB41L3:NM_001281533:exon3:c.A380T:p.E127V;EPB41L3:NM_001281535:exon5:c.A53T:p.E18V;EPB41L3:NM_012307:exon3:c.A380T:p.E127V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000580308:exon3:c.A380T:p.E127V;ENSG00000082397:ENST00000584015:exon3:c.A380T:p.E127V;ENSG00000082397:ENST00000584651:exon3:c.A380T:p.E127V;ENSG00000082397:ENST00000342933:exon3:c.A380T:p.E127V;ENSG00000082397:ENST00000341928:exon3:c.A380T:p.E127V;ENSG00000082397:ENST00000544123:exon3:c.A380T:p.E127V;ENSG00000082397:ENST00000540638:exon3:c.A380T:p.E127V;ENSG00000082397:ENST00000578503:exon2:c.A380T:p.E127V;ENSG00000082397:ENST00000400111:exon3:c.A380T:p.E127V;	0.989181818678041	0.56
18	5478241	T	C	18	5478242	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.A380G:p.E127G;EPB41L3:NM_001281533:exon3:c.A380G:p.E127G;EPB41L3:NM_001281535:exon5:c.A53G:p.E18G;EPB41L3:NM_012307:exon3:c.A380G:p.E127G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000580308:exon3:c.A380G:p.E127G;ENSG00000082397:ENST00000584015:exon3:c.A380G:p.E127G;ENSG00000082397:ENST00000584651:exon3:c.A380G:p.E127G;ENSG00000082397:ENST00000342933:exon3:c.A380G:p.E127G;ENSG00000082397:ENST00000341928:exon3:c.A380G:p.E127G;ENSG00000082397:ENST00000544123:exon3:c.A380G:p.E127G;ENSG00000082397:ENST00000540638:exon3:c.A380G:p.E127G;ENSG00000082397:ENST00000578503:exon2:c.A380G:p.E127G;ENSG00000082397:ENST00000400111:exon3:c.A380G:p.E127G;	0.994318995810487	0.884
18	5478241	T	G	18	5478242	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.A380C:p.E127A;EPB41L3:NM_001281533:exon3:c.A380C:p.E127A;EPB41L3:NM_001281535:exon5:c.A53C:p.E18A;EPB41L3:NM_012307:exon3:c.A380C:p.E127A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000580308:exon3:c.A380C:p.E127A;ENSG00000082397:ENST00000584015:exon3:c.A380C:p.E127A;ENSG00000082397:ENST00000584651:exon3:c.A380C:p.E127A;ENSG00000082397:ENST00000342933:exon3:c.A380C:p.E127A;ENSG00000082397:ENST00000341928:exon3:c.A380C:p.E127A;ENSG00000082397:ENST00000544123:exon3:c.A380C:p.E127A;ENSG00000082397:ENST00000540638:exon3:c.A380C:p.E127A;ENSG00000082397:ENST00000578503:exon2:c.A380C:p.E127A;ENSG00000082397:ENST00000400111:exon3:c.A380C:p.E127A;	0.986956453060562	0.726
18	5478242	C	A	18	5478243	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon3:c.G379T:p.E127X;EPB41L3:NM_001281533:exon3:c.G379T:p.E127X;EPB41L3:NM_001281535:exon5:c.G52T:p.E18X;EPB41L3:NM_012307:exon3:c.G379T:p.E127X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000580308:exon3:c.G379T:p.E127X;ENSG00000082397:ENST00000584015:exon3:c.G379T:p.E127X;ENSG00000082397:ENST00000584651:exon3:c.G379T:p.E127X;ENSG00000082397:ENST00000342933:exon3:c.G379T:p.E127X;ENSG00000082397:ENST00000341928:exon3:c.G379T:p.E127X;ENSG00000082397:ENST00000544123:exon3:c.G379T:p.E127X;ENSG00000082397:ENST00000540638:exon3:c.G379T:p.E127X;ENSG00000082397:ENST00000578503:exon2:c.G379T:p.E127X;ENSG00000082397:ENST00000400111:exon3:c.G379T:p.E127X;	0.930261788734719	0.828
18	5478242	C	G	18	5478243	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.G379C:p.E127Q;EPB41L3:NM_001281533:exon3:c.G379C:p.E127Q;EPB41L3:NM_001281535:exon5:c.G52C:p.E18Q;EPB41L3:NM_012307:exon3:c.G379C:p.E127Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000580308:exon3:c.G379C:p.E127Q;ENSG00000082397:ENST00000584015:exon3:c.G379C:p.E127Q;ENSG00000082397:ENST00000584651:exon3:c.G379C:p.E127Q;ENSG00000082397:ENST00000342933:exon3:c.G379C:p.E127Q;ENSG00000082397:ENST00000341928:exon3:c.G379C:p.E127Q;ENSG00000082397:ENST00000544123:exon3:c.G379C:p.E127Q;ENSG00000082397:ENST00000540638:exon3:c.G379C:p.E127Q;ENSG00000082397:ENST00000578503:exon2:c.G379C:p.E127Q;ENSG00000082397:ENST00000400111:exon3:c.G379C:p.E127Q;	0.77561368012501	0.684
18	5478242	C	T	18	5478243	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.G379A:p.E127K;EPB41L3:NM_001281533:exon3:c.G379A:p.E127K;EPB41L3:NM_001281535:exon5:c.G52A:p.E18K;EPB41L3:NM_012307:exon3:c.G379A:p.E127K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000580308:exon3:c.G379A:p.E127K;ENSG00000082397:ENST00000584015:exon3:c.G379A:p.E127K;ENSG00000082397:ENST00000584651:exon3:c.G379A:p.E127K;ENSG00000082397:ENST00000342933:exon3:c.G379A:p.E127K;ENSG00000082397:ENST00000341928:exon3:c.G379A:p.E127K;ENSG00000082397:ENST00000544123:exon3:c.G379A:p.E127K;ENSG00000082397:ENST00000540638:exon3:c.G379A:p.E127K;ENSG00000082397:ENST00000578503:exon2:c.G379A:p.E127K;ENSG00000082397:ENST00000400111:exon3:c.G379A:p.E127K;	0.778142480596679	0.796
18	5478436	A	C	18	5478437	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.T185G:p.V62G;EPB41L3:NM_001281533:exon3:c.T185G:p.V62G;EPB41L3:NM_012307:exon3:c.T185G:p.V62G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000580308:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000584015:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000580179:exon5:c.T185G:p.V62G;ENSG00000082397:ENST00000584651:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000582592:exon3:c.T251G:p.V84G;ENSG00000082397:ENST00000342933:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000580989:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000582703:exon5:c.T185G:p.V62G;ENSG00000082397:ENST00000581833:exon4:c.T185G:p.V62G;ENSG00000082397:ENST00000341928:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000544123:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000540638:exon3:c.T185G:p.V62G;ENSG00000082397:ENST00000578503:exon2:c.T185G:p.V62G;ENSG00000082397:ENST00000400111:exon3:c.T185G:p.V62G;	4.6382697640055E-4	0.002
18	5478436	A	G	18	5478437	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.T185C:p.V62A;EPB41L3:NM_001281533:exon3:c.T185C:p.V62A;EPB41L3:NM_012307:exon3:c.T185C:p.V62A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000580308:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000584015:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000580179:exon5:c.T185C:p.V62A;ENSG00000082397:ENST00000584651:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000582592:exon3:c.T251C:p.V84A;ENSG00000082397:ENST00000342933:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000580989:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000582703:exon5:c.T185C:p.V62A;ENSG00000082397:ENST00000581833:exon4:c.T185C:p.V62A;ENSG00000082397:ENST00000341928:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000544123:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000540638:exon3:c.T185C:p.V62A;ENSG00000082397:ENST00000578503:exon2:c.T185C:p.V62A;ENSG00000082397:ENST00000400111:exon3:c.T185C:p.V62A;	1.31052983516933E-4	0.006
18	5478436	A	T	18	5478437	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.T185A:p.V62D;EPB41L3:NM_001281533:exon3:c.T185A:p.V62D;EPB41L3:NM_012307:exon3:c.T185A:p.V62D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000580308:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000584015:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000580179:exon5:c.T185A:p.V62D;ENSG00000082397:ENST00000584651:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000582592:exon3:c.T251A:p.V84D;ENSG00000082397:ENST00000342933:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000580989:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000582703:exon5:c.T185A:p.V62D;ENSG00000082397:ENST00000581833:exon4:c.T185A:p.V62D;ENSG00000082397:ENST00000341928:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000544123:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000540638:exon3:c.T185A:p.V62D;ENSG00000082397:ENST00000578503:exon2:c.T185A:p.V62D;ENSG00000082397:ENST00000400111:exon3:c.T185A:p.V62D;	2.81593040311966E-4	0.0
18	5478437	C	A	18	5478438	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.G184T:p.V62F;EPB41L3:NM_001281533:exon3:c.G184T:p.V62F;EPB41L3:NM_012307:exon3:c.G184T:p.V62F;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000580308:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000584015:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000580179:exon5:c.G184T:p.V62F;ENSG00000082397:ENST00000584651:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000582592:exon3:c.G250T:p.V84F;ENSG00000082397:ENST00000342933:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000580989:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000582703:exon5:c.G184T:p.V62F;ENSG00000082397:ENST00000581833:exon4:c.G184T:p.V62F;ENSG00000082397:ENST00000341928:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000544123:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000540638:exon3:c.G184T:p.V62F;ENSG00000082397:ENST00000578503:exon2:c.G184T:p.V62F;ENSG00000082397:ENST00000400111:exon3:c.G184T:p.V62F;	0.279309815202143	0.48
18	5478437	C	G	18	5478438	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.G184C:p.V62L;EPB41L3:NM_001281533:exon3:c.G184C:p.V62L;EPB41L3:NM_012307:exon3:c.G184C:p.V62L;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000580308:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000584015:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000580179:exon5:c.G184C:p.V62L;ENSG00000082397:ENST00000584651:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000582592:exon3:c.G250C:p.V84L;ENSG00000082397:ENST00000342933:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000580989:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000582703:exon5:c.G184C:p.V62L;ENSG00000082397:ENST00000581833:exon4:c.G184C:p.V62L;ENSG00000082397:ENST00000341928:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000544123:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000540638:exon3:c.G184C:p.V62L;ENSG00000082397:ENST00000578503:exon2:c.G184C:p.V62L;ENSG00000082397:ENST00000400111:exon3:c.G184C:p.V62L;	0.00248569217879835	0.262
18	5478437	C	T	18	5478438	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon3:c.G184A:p.V62I;EPB41L3:NM_001281533:exon3:c.G184A:p.V62I;EPB41L3:NM_012307:exon3:c.G184A:p.V62I;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000580308:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000584015:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000580179:exon5:c.G184A:p.V62I;ENSG00000082397:ENST00000584651:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000582592:exon3:c.G250A:p.V84I;ENSG00000082397:ENST00000342933:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000580989:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000582703:exon5:c.G184A:p.V62I;ENSG00000082397:ENST00000581833:exon4:c.G184A:p.V62I;ENSG00000082397:ENST00000341928:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000544123:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000540638:exon3:c.G184A:p.V62I;ENSG00000082397:ENST00000578503:exon2:c.G184A:p.V62I;ENSG00000082397:ENST00000400111:exon3:c.G184A:p.V62I;	0.00254015402820911	0.172
18	5478438	C	A	18	5478439	y	y	splicing	EPB41L3(NM_001281533:exon4:c.184-1G>T;NM_012307:exon4:c.184-1G>T;NM_001281534:exon4:c.184-1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.184-1G>T;ENST00000544123:exon4:c.184-1G>T;ENST00000540638:exon4:c.184-1G>T;ENST00000400111:exon4:c.184-1G>T;ENST00000342933:exon4:c.184-1G>T;ENST00000584651:exon4:c.184-1G>T;ENST00000578503:exon3:c.184-1G>T;ENST00000584015:exon4:c.184-1G>T;ENST00000580308:exon4:c.184-1G>T;ENST00000580989:exon4:c.184-1G>T;ENST00000581833:exon5:c.184-1G>T;ENST00000585142:exon4:c.184-1G>T;ENST00000582703:exon6:c.184-1G>T;ENST00000580179:exon6:c.184-1G>T;ENST00000582592:exon4:c.250-1G>T)	.	.	0.999981760802075	0.944
18	5478438	C	G	18	5478439	y	y	splicing	EPB41L3(NM_001281533:exon4:c.184-1G>C;NM_012307:exon4:c.184-1G>C;NM_001281534:exon4:c.184-1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.184-1G>C;ENST00000544123:exon4:c.184-1G>C;ENST00000540638:exon4:c.184-1G>C;ENST00000400111:exon4:c.184-1G>C;ENST00000342933:exon4:c.184-1G>C;ENST00000584651:exon4:c.184-1G>C;ENST00000578503:exon3:c.184-1G>C;ENST00000584015:exon4:c.184-1G>C;ENST00000580308:exon4:c.184-1G>C;ENST00000580989:exon4:c.184-1G>C;ENST00000581833:exon5:c.184-1G>C;ENST00000585142:exon4:c.184-1G>C;ENST00000582703:exon6:c.184-1G>C;ENST00000580179:exon6:c.184-1G>C;ENST00000582592:exon4:c.250-1G>C)	.	.	0.999981760802075	0.944
18	5478438	C	T	18	5478439	y	y	splicing	EPB41L3(NM_001281533:exon4:c.184-1G>A;NM_012307:exon4:c.184-1G>A;NM_001281534:exon4:c.184-1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.184-1G>A;ENST00000544123:exon4:c.184-1G>A;ENST00000540638:exon4:c.184-1G>A;ENST00000400111:exon4:c.184-1G>A;ENST00000342933:exon4:c.184-1G>A;ENST00000584651:exon4:c.184-1G>A;ENST00000578503:exon3:c.184-1G>A;ENST00000584015:exon4:c.184-1G>A;ENST00000580308:exon4:c.184-1G>A;ENST00000580989:exon4:c.184-1G>A;ENST00000581833:exon5:c.184-1G>A;ENST00000585142:exon4:c.184-1G>A;ENST00000582703:exon6:c.184-1G>A;ENST00000580179:exon6:c.184-1G>A;ENST00000582592:exon4:c.250-1G>A)	.	.	0.999981760802075	0.944
18	5478439	T	A	18	5478440	y	y	splicing	EPB41L3(NM_001281533:exon4:c.184-2A>T;NM_012307:exon4:c.184-2A>T;NM_001281534:exon4:c.184-2A>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.184-2A>T;ENST00000544123:exon4:c.184-2A>T;ENST00000540638:exon4:c.184-2A>T;ENST00000400111:exon4:c.184-2A>T;ENST00000342933:exon4:c.184-2A>T;ENST00000584651:exon4:c.184-2A>T;ENST00000578503:exon3:c.184-2A>T;ENST00000584015:exon4:c.184-2A>T;ENST00000580308:exon4:c.184-2A>T;ENST00000580989:exon4:c.184-2A>T;ENST00000581833:exon5:c.184-2A>T;ENST00000585142:exon4:c.184-2A>T;ENST00000582703:exon6:c.184-2A>T;ENST00000580179:exon6:c.184-2A>T;ENST00000582592:exon4:c.250-2A>T)	.	.	0.999989917668626	0.928
18	5478439	T	C	18	5478440	y	y	splicing	EPB41L3(NM_001281533:exon4:c.184-2A>G;NM_012307:exon4:c.184-2A>G;NM_001281534:exon4:c.184-2A>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.184-2A>G;ENST00000544123:exon4:c.184-2A>G;ENST00000540638:exon4:c.184-2A>G;ENST00000400111:exon4:c.184-2A>G;ENST00000342933:exon4:c.184-2A>G;ENST00000584651:exon4:c.184-2A>G;ENST00000578503:exon3:c.184-2A>G;ENST00000584015:exon4:c.184-2A>G;ENST00000580308:exon4:c.184-2A>G;ENST00000580989:exon4:c.184-2A>G;ENST00000581833:exon5:c.184-2A>G;ENST00000585142:exon4:c.184-2A>G;ENST00000582703:exon6:c.184-2A>G;ENST00000580179:exon6:c.184-2A>G;ENST00000582592:exon4:c.250-2A>G)	.	.	0.999989917668626	0.928
18	5478439	T	G	18	5478440	y	y	splicing	EPB41L3(NM_001281533:exon4:c.184-2A>C;NM_012307:exon4:c.184-2A>C;NM_001281534:exon4:c.184-2A>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon4:c.184-2A>C;ENST00000544123:exon4:c.184-2A>C;ENST00000540638:exon4:c.184-2A>C;ENST00000400111:exon4:c.184-2A>C;ENST00000342933:exon4:c.184-2A>C;ENST00000584651:exon4:c.184-2A>C;ENST00000578503:exon3:c.184-2A>C;ENST00000584015:exon4:c.184-2A>C;ENST00000580308:exon4:c.184-2A>C;ENST00000580989:exon4:c.184-2A>C;ENST00000581833:exon5:c.184-2A>C;ENST00000585142:exon4:c.184-2A>C;ENST00000582703:exon6:c.184-2A>C;ENST00000580179:exon6:c.184-2A>C;ENST00000582592:exon4:c.250-2A>C)	.	.	0.999989917668626	0.928
18	5478440	G	A	18	5478441	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.691394062523972	0.362
18	5478440	G	C	18	5478441	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.99994276550859	0.952
18	5478440	G	T	18	5478441	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.943518397600478	0.606
18	5478441	T	A	18	5478442	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	1.91110164803079E-4	0.016
18	5478441	T	C	18	5478442	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	8.00271336400551E-5	0.002
18	5478441	T	G	18	5478442	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	7.21498261086145E-5	0.008
18	5478442	G	A	18	5478443	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	1.54108354396534E-4	0.014
18	5478442	G	C	18	5478443	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00216707332948705	0.062
18	5478442	G	T	18	5478443	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00112010780391105	0.07
18	5478443	A	C	18	5478444	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	8.59076726375986E-4	0.122
18	5478443	A	G	18	5478444	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	1.49387433027692E-4	0.024
18	5478443	A	T	18	5478444	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00110063537173246	0.084
18	5478444	A	C	18	5478445	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.0149782433571385	0.24
18	5478444	A	G	18	5478445	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	8.0822666404561E-4	0.036
18	5478444	A	T	18	5478445	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.0116125975092728	0.268
18	5478445	G	A	18	5478446	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	4.83712317188804E-4	0.006
18	5478445	G	C	18	5478446	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00139724627460432	0.062
18	5478445	G	T	18	5478446	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00403565768273703	0.178
18	5478446	A	C	18	5478447	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	1.41468219992857E-4	0.12
18	5478446	A	G	18	5478447	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	2.87988405067215E-5	0.068
18	5478446	A	T	18	5478447	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	2.79872691488367E-4	0.23
18	5478447	G	A	18	5478448	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.0249296271387662	0.436
18	5478447	G	C	18	5478448	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.0291055718092255	0.278
18	5478447	G	T	18	5478448	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.0518367080128679	0.29
18	5478448	C	A	18	5478449	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	2.40694079234588E-4	0.324
18	5478448	C	G	18	5478449	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	1.48113886367194E-4	0.182
18	5478448	C	T	18	5478449	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	6.63829879934579E-4	0.18
18	5478449	A	C	18	5478450	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00643100619518586	0.176
18	5478449	A	G	18	5478450	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.00139608945701635	0.098
18	5478449	A	T	18	5478450	y	y	intronic	EPB41L3	.	.	ncRNA_intronic	ENSG00000265316	.	.	0.999256285910173	0.888
18	5488992	G	A	18	5488993	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.32205226150382E-4	0.038
18	5488992	G	C	18	5488993	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.12120002013752E-5	0.0
18	5488992	G	T	18	5488993	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.28008635753751E-4	0.014
18	5488993	G	A	18	5488994	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.82538603957599E-4	0.03
18	5488993	G	C	18	5488994	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.46867310810966E-5	0.02
18	5488993	G	T	18	5488994	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.00524184332891E-5	0.016
18	5488994	G	A	18	5488995	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.28780030901304E-4	0.004
18	5488994	G	C	18	5488995	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00232814061888553	0.104
18	5488994	G	T	18	5488995	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00424941483797469	0.136
18	5488995	C	A	18	5488996	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998426792443248	0.822
18	5488995	C	G	18	5488996	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999576763497611	0.896
18	5488995	C	T	18	5488996	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998946810857574	0.848
18	5488996	T	A	18	5488997	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998976368898535	0.916
18	5488996	T	C	18	5488997	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.997609413444517	0.92
18	5488996	T	G	18	5488997	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.998130437601662	0.884
18	5488997	C	A	18	5488998	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999726853902951	0.93
18	5488997	C	G	18	5488998	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999518858158186	0.94
18	5488997	C	T	18	5488998	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.148713588922316	0.238
18	5488998	A	C	18	5488999	y	y	splicing	EPB41L3(NM_001281533:exon3:c.183+2T>G;NM_012307:exon3:c.183+2T>G;NM_001281534:exon3:c.183+2T>G)	.	.	splicing	ENSG00000082397(ENST00000341928:exon3:c.183+2T>G;ENST00000544123:exon3:c.183+2T>G;ENST00000540638:exon3:c.183+2T>G;ENST00000400111:exon3:c.183+2T>G;ENST00000342933:exon3:c.183+2T>G;ENST00000584651:exon3:c.183+2T>G;ENST00000578503:exon2:c.183+2T>G;ENST00000584015:exon3:c.183+2T>G;ENST00000580308:exon3:c.183+2T>G;ENST00000580989:exon3:c.183+2T>G;ENST00000581833:exon4:c.183+2T>G;ENST00000585142:exon3:c.183+2T>G;ENST00000582703:exon5:c.183+2T>G;ENST00000580179:exon5:c.183+2T>G;ENST00000582592:exon3:c.249+2T>G)	.	.	0.999976368862214	0.926
18	5488998	A	G	18	5488999	y	y	splicing	EPB41L3(NM_001281533:exon3:c.183+2T>C;NM_012307:exon3:c.183+2T>C;NM_001281534:exon3:c.183+2T>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon3:c.183+2T>C;ENST00000544123:exon3:c.183+2T>C;ENST00000540638:exon3:c.183+2T>C;ENST00000400111:exon3:c.183+2T>C;ENST00000342933:exon3:c.183+2T>C;ENST00000584651:exon3:c.183+2T>C;ENST00000578503:exon2:c.183+2T>C;ENST00000584015:exon3:c.183+2T>C;ENST00000580308:exon3:c.183+2T>C;ENST00000580989:exon3:c.183+2T>C;ENST00000581833:exon4:c.183+2T>C;ENST00000585142:exon3:c.183+2T>C;ENST00000582703:exon5:c.183+2T>C;ENST00000580179:exon5:c.183+2T>C;ENST00000582592:exon3:c.249+2T>C)	.	.	0.999925461451423	0.89
18	5488998	A	T	18	5488999	y	y	splicing	EPB41L3(NM_001281533:exon3:c.183+2T>A;NM_012307:exon3:c.183+2T>A;NM_001281534:exon3:c.183+2T>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon3:c.183+2T>A;ENST00000544123:exon3:c.183+2T>A;ENST00000540638:exon3:c.183+2T>A;ENST00000400111:exon3:c.183+2T>A;ENST00000342933:exon3:c.183+2T>A;ENST00000584651:exon3:c.183+2T>A;ENST00000578503:exon2:c.183+2T>A;ENST00000584015:exon3:c.183+2T>A;ENST00000580308:exon3:c.183+2T>A;ENST00000580989:exon3:c.183+2T>A;ENST00000581833:exon4:c.183+2T>A;ENST00000585142:exon3:c.183+2T>A;ENST00000582703:exon5:c.183+2T>A;ENST00000580179:exon5:c.183+2T>A;ENST00000582592:exon3:c.249+2T>A)	.	.	0.999981808176352	0.924
18	5488999	C	A	18	5489000	y	y	splicing	EPB41L3(NM_001281533:exon3:c.183+1G>T;NM_012307:exon3:c.183+1G>T;NM_001281534:exon3:c.183+1G>T)	.	.	splicing	ENSG00000082397(ENST00000341928:exon3:c.183+1G>T;ENST00000544123:exon3:c.183+1G>T;ENST00000540638:exon3:c.183+1G>T;ENST00000400111:exon3:c.183+1G>T;ENST00000342933:exon3:c.183+1G>T;ENST00000584651:exon3:c.183+1G>T;ENST00000578503:exon2:c.183+1G>T;ENST00000584015:exon3:c.183+1G>T;ENST00000580308:exon3:c.183+1G>T;ENST00000580989:exon3:c.183+1G>T;ENST00000581833:exon4:c.183+1G>T;ENST00000585142:exon3:c.183+1G>T;ENST00000582703:exon5:c.183+1G>T;ENST00000580179:exon5:c.183+1G>T;ENST00000582592:exon3:c.249+1G>T)	.	.	0.999986675681007	0.938
18	5488999	C	G	18	5489000	y	y	splicing	EPB41L3(NM_001281533:exon3:c.183+1G>C;NM_012307:exon3:c.183+1G>C;NM_001281534:exon3:c.183+1G>C)	.	.	splicing	ENSG00000082397(ENST00000341928:exon3:c.183+1G>C;ENST00000544123:exon3:c.183+1G>C;ENST00000540638:exon3:c.183+1G>C;ENST00000400111:exon3:c.183+1G>C;ENST00000342933:exon3:c.183+1G>C;ENST00000584651:exon3:c.183+1G>C;ENST00000578503:exon2:c.183+1G>C;ENST00000584015:exon3:c.183+1G>C;ENST00000580308:exon3:c.183+1G>C;ENST00000580989:exon3:c.183+1G>C;ENST00000581833:exon4:c.183+1G>C;ENST00000585142:exon3:c.183+1G>C;ENST00000582703:exon5:c.183+1G>C;ENST00000580179:exon5:c.183+1G>C;ENST00000582592:exon3:c.249+1G>C)	.	.	0.999986675681007	0.938
18	5488999	C	T	18	5489000	y	y	splicing	EPB41L3(NM_001281533:exon3:c.183+1G>A;NM_012307:exon3:c.183+1G>A;NM_001281534:exon3:c.183+1G>A)	.	.	splicing	ENSG00000082397(ENST00000341928:exon3:c.183+1G>A;ENST00000544123:exon3:c.183+1G>A;ENST00000540638:exon3:c.183+1G>A;ENST00000400111:exon3:c.183+1G>A;ENST00000342933:exon3:c.183+1G>A;ENST00000584651:exon3:c.183+1G>A;ENST00000578503:exon2:c.183+1G>A;ENST00000584015:exon3:c.183+1G>A;ENST00000580308:exon3:c.183+1G>A;ENST00000580989:exon3:c.183+1G>A;ENST00000581833:exon4:c.183+1G>A;ENST00000585142:exon3:c.183+1G>A;ENST00000582703:exon5:c.183+1G>A;ENST00000580179:exon5:c.183+1G>A;ENST00000582592:exon3:c.249+1G>A)	.	.	0.999986675681007	0.938
18	5489000	C	A	18	5489001	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon2:c.G183T:p.E61D;EPB41L3:NM_001281533:exon2:c.G183T:p.E61D;EPB41L3:NM_012307:exon2:c.G183T:p.E61D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000580308:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000584015:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000580179:exon4:c.G183T:p.E61D;ENSG00000082397:ENST00000584651:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000582592:exon2:c.G249T:p.E83D;ENSG00000082397:ENST00000342933:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000580989:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000582703:exon4:c.G183T:p.E61D;ENSG00000082397:ENST00000581833:exon3:c.G183T:p.E61D;ENSG00000082397:ENST00000341928:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000544123:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000540638:exon2:c.G183T:p.E61D;ENSG00000082397:ENST00000578503:exon1:c.G183T:p.E61D;ENSG00000082397:ENST00000400111:exon2:c.G183T:p.E61D;	0.99970271948727	0.97
18	5489000	C	G	18	5489001	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon2:c.G183C:p.E61D;EPB41L3:NM_001281533:exon2:c.G183C:p.E61D;EPB41L3:NM_012307:exon2:c.G183C:p.E61D;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000580308:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000584015:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000580179:exon4:c.G183C:p.E61D;ENSG00000082397:ENST00000584651:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000582592:exon2:c.G249C:p.E83D;ENSG00000082397:ENST00000342933:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000580989:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000582703:exon4:c.G183C:p.E61D;ENSG00000082397:ENST00000581833:exon3:c.G183C:p.E61D;ENSG00000082397:ENST00000341928:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000544123:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000540638:exon2:c.G183C:p.E61D;ENSG00000082397:ENST00000578503:exon1:c.G183C:p.E61D;ENSG00000082397:ENST00000400111:exon2:c.G183C:p.E61D;	0.999966011862298	0.976
18	5489000	C	T	18	5489001	y	y	exonic	EPB41L3	synonymous SNV	EPB41L3:NM_001281534:exon2:c.G183A:p.E61E;EPB41L3:NM_001281533:exon2:c.G183A:p.E61E;EPB41L3:NM_012307:exon2:c.G183A:p.E61E;	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000585142:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000580308:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000584015:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000580179:exon4:c.G183A:p.E61E;ENSG00000082397:ENST00000584651:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000582592:exon2:c.G249A:p.E83E;ENSG00000082397:ENST00000342933:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000580989:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000582703:exon4:c.G183A:p.E61E;ENSG00000082397:ENST00000581833:exon3:c.G183A:p.E61E;ENSG00000082397:ENST00000341928:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000544123:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000540638:exon2:c.G183A:p.E61E;ENSG00000082397:ENST00000578503:exon1:c.G183A:p.E61E;ENSG00000082397:ENST00000400111:exon2:c.G183A:p.E61E;	0.999775109564632	0.976
18	5489001	T	A	18	5489002	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon2:c.A182T:p.E61V;EPB41L3:NM_001281533:exon2:c.A182T:p.E61V;EPB41L3:NM_012307:exon2:c.A182T:p.E61V;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000580308:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000584015:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000580179:exon4:c.A182T:p.E61V;ENSG00000082397:ENST00000584651:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000582592:exon2:c.A248T:p.E83V;ENSG00000082397:ENST00000342933:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000580989:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000582703:exon4:c.A182T:p.E61V;ENSG00000082397:ENST00000581833:exon3:c.A182T:p.E61V;ENSG00000082397:ENST00000341928:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000544123:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000540638:exon2:c.A182T:p.E61V;ENSG00000082397:ENST00000578503:exon1:c.A182T:p.E61V;ENSG00000082397:ENST00000400111:exon2:c.A182T:p.E61V;	0.954201594175278	0.884
18	5489001	T	C	18	5489002	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon2:c.A182G:p.E61G;EPB41L3:NM_001281533:exon2:c.A182G:p.E61G;EPB41L3:NM_012307:exon2:c.A182G:p.E61G;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000580308:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000584015:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000580179:exon4:c.A182G:p.E61G;ENSG00000082397:ENST00000584651:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000582592:exon2:c.A248G:p.E83G;ENSG00000082397:ENST00000342933:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000580989:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000582703:exon4:c.A182G:p.E61G;ENSG00000082397:ENST00000581833:exon3:c.A182G:p.E61G;ENSG00000082397:ENST00000341928:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000544123:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000540638:exon2:c.A182G:p.E61G;ENSG00000082397:ENST00000578503:exon1:c.A182G:p.E61G;ENSG00000082397:ENST00000400111:exon2:c.A182G:p.E61G;	0.999099721082601	0.93
18	5489001	T	G	18	5489002	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon2:c.A182C:p.E61A;EPB41L3:NM_001281533:exon2:c.A182C:p.E61A;EPB41L3:NM_012307:exon2:c.A182C:p.E61A;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000580308:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000584015:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000580179:exon4:c.A182C:p.E61A;ENSG00000082397:ENST00000584651:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000582592:exon2:c.A248C:p.E83A;ENSG00000082397:ENST00000342933:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000580989:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000582703:exon4:c.A182C:p.E61A;ENSG00000082397:ENST00000581833:exon3:c.A182C:p.E61A;ENSG00000082397:ENST00000341928:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000544123:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000540638:exon2:c.A182C:p.E61A;ENSG00000082397:ENST00000578503:exon1:c.A182C:p.E61A;ENSG00000082397:ENST00000400111:exon2:c.A182C:p.E61A;	0.960411171153157	0.846
18	5489002	C	A	18	5489003	y	y	exonic	EPB41L3	stopgain SNV	EPB41L3:NM_001281534:exon2:c.G181T:p.E61X;EPB41L3:NM_001281533:exon2:c.G181T:p.E61X;EPB41L3:NM_012307:exon2:c.G181T:p.E61X;	exonic	ENSG00000082397	stopgain SNV	ENSG00000082397:ENST00000585142:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000580308:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000584015:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000580179:exon4:c.G181T:p.E61X;ENSG00000082397:ENST00000584651:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000582592:exon2:c.G247T:p.E83X;ENSG00000082397:ENST00000342933:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000580989:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000582703:exon4:c.G181T:p.E61X;ENSG00000082397:ENST00000581833:exon3:c.G181T:p.E61X;ENSG00000082397:ENST00000341928:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000544123:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000540638:exon2:c.G181T:p.E61X;ENSG00000082397:ENST00000578503:exon1:c.G181T:p.E61X;ENSG00000082397:ENST00000400111:exon2:c.G181T:p.E61X;	0.987357510446182	0.812
18	5489002	C	G	18	5489003	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon2:c.G181C:p.E61Q;EPB41L3:NM_001281533:exon2:c.G181C:p.E61Q;EPB41L3:NM_012307:exon2:c.G181C:p.E61Q;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000580308:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000584015:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000580179:exon4:c.G181C:p.E61Q;ENSG00000082397:ENST00000584651:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000582592:exon2:c.G247C:p.E83Q;ENSG00000082397:ENST00000342933:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000580989:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000582703:exon4:c.G181C:p.E61Q;ENSG00000082397:ENST00000581833:exon3:c.G181C:p.E61Q;ENSG00000082397:ENST00000341928:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000544123:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000540638:exon2:c.G181C:p.E61Q;ENSG00000082397:ENST00000578503:exon1:c.G181C:p.E61Q;ENSG00000082397:ENST00000400111:exon2:c.G181C:p.E61Q;	0.345090578977031	0.4
18	5489002	C	T	18	5489003	y	y	exonic	EPB41L3	nonsynonymous SNV	EPB41L3:NM_001281534:exon2:c.G181A:p.E61K;EPB41L3:NM_001281533:exon2:c.G181A:p.E61K;EPB41L3:NM_012307:exon2:c.G181A:p.E61K;	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000585142:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000580308:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000584015:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000580179:exon4:c.G181A:p.E61K;ENSG00000082397:ENST00000584651:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000582592:exon2:c.G247A:p.E83K;ENSG00000082397:ENST00000342933:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000580989:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000582703:exon4:c.G181A:p.E61K;ENSG00000082397:ENST00000581833:exon3:c.G181A:p.E61K;ENSG00000082397:ENST00000341928:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000544123:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000540638:exon2:c.G181A:p.E61K;ENSG00000082397:ENST00000578503:exon1:c.G181A:p.E61K;ENSG00000082397:ENST00000400111:exon2:c.G181A:p.E61K;	0.919907113488772	0.668
18	5489192	T	A	18	5489193	y	y	UTR5	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000582592:exon2:c.A57T:p.E19D;	0.00436091625091082	0.03
18	5489192	T	C	18	5489193	y	y	UTR5	EPB41L3	.	.	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000582592:exon2:c.A57G:p.E19E;	0.00665350003005937	0.026
18	5489192	T	G	18	5489193	y	y	UTR5	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000582592:exon2:c.A57C:p.E19D;	0.00501380579115231	0.034
18	5489193	T	A	18	5489194	y	y	UTR5	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000582592:exon2:c.A56T:p.E19V;	0.0124612901931113	0.164
18	5489193	T	C	18	5489194	y	y	UTR5	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000582592:exon2:c.A56G:p.E19G;	0.00178282200596004	0.018
18	5489193	T	G	18	5489194	y	y	UTR5	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000582592:exon2:c.A56C:p.E19A;	0.00331746614245389	0.07
18	5489194	C	A	18	5489195	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000582592:exon3:c.56-1G>T)	.	.	0.999938990645747	0.946
18	5489194	C	G	18	5489195	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000582592:exon3:c.56-1G>C)	.	.	0.999938990645747	0.938
18	5489194	C	T	18	5489195	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000582592:exon3:c.56-1G>A)	.	.	0.999938990645747	0.946
18	5489195	T	A	18	5489196	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000582592:exon3:c.56-2A>T)	.	.	0.999946188727699	0.946
18	5489195	T	C	18	5489196	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000582592:exon3:c.56-2A>G)	.	.	0.999946188727699	0.934
18	5489195	T	G	18	5489196	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000582592:exon3:c.56-2A>C)	.	.	0.999946188727699	0.928
18	5489196	G	A	18	5489197	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0172007716791216	0.136
18	5489196	G	C	18	5489197	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.999658428798684	0.974
18	5489196	G	T	18	5489197	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.989219457822774	0.748
18	5489197	C	A	18	5489198	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.85955214170242E-4	0.004
18	5489197	C	G	18	5489198	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.3542241474374E-4	0.008
18	5489197	C	T	18	5489198	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	5.43303607813683E-4	0.012
18	5489198	A	C	18	5489199	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0266129977847809	0.306
18	5489198	A	G	18	5489199	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.8596352533441E-4	0.024
18	5489198	A	T	18	5489199	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.98288813867276	0.84
18	5489199	A	C	18	5489200	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00220811544186459	0.082
18	5489199	A	G	18	5489200	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.31147535509201E-4	0.0
18	5489199	A	T	18	5489200	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00409694642559546	0.098
18	5489200	G	A	18	5489201	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	5.69990439477148E-5	0.002
18	5489200	G	C	18	5489201	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00365591079372593	0.048
18	5489200	G	T	18	5489201	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00778434939352242	0.092
18	5489201	C	A	18	5489202	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.55035660203227E-5	0.0
18	5489201	C	G	18	5489202	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.1144627563461E-5	0.0
18	5489201	C	T	18	5489202	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	7.17081017099727E-5	0.0
18	5489202	A	C	18	5489203	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00103125236752893	0.168
18	5489202	A	G	18	5489203	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.07883491596516E-4	0.018
18	5489202	A	T	18	5489203	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.999760674710515	0.91
18	5489203	G	A	18	5489204	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.61204970410299E-4	0.0
18	5489203	G	C	18	5489204	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.91883595839629E-4	0.038
18	5489203	G	T	18	5489204	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00173144852353523	0.054
18	5489204	A	C	18	5489205	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0032540937598526	0.27
18	5489204	A	G	18	5489205	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0011196715797358	0.088
18	5489204	A	T	18	5489205	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0389952812824315	0.34
18	5489205	A	C	18	5489206	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00260880214125546	0.312
18	5489205	A	G	18	5489206	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0011153749948595	0.046
18	5489205	A	T	18	5489206	y	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0101941569379662	0.28
18	5489262	A	C	18	5489263	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.86764315709017E-5	0.0
18	5489262	A	G	18	5489263	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.86764315709017E-5	0.0
18	5489262	A	T	18	5489263	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.01212398005583E-5	0.0
18	5489263	T	A	18	5489264	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.39083642728588E-5	0.0
18	5489263	T	C	18	5489264	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.39083642728588E-5	0.0
18	5489263	T	G	18	5489264	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.39083642728588E-5	0.0
18	5489264	G	A	18	5489265	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.04349982970396E-5	0.0
18	5489264	G	C	18	5489265	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.04349982970396E-5	0.0
18	5489264	G	T	18	5489265	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.04349982970396E-5	0.0
18	5489265	C	A	18	5489266	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.88563338073588E-5	0.004
18	5489265	C	G	18	5489266	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.68952365742707E-5	0.004
18	5489265	C	T	18	5489266	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.88563338073588E-5	0.004
18	5489266	T	A	18	5489267	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.12051756480288E-5	0.002
18	5489266	T	C	18	5489267	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.12051756480288E-5	0.002
18	5489266	T	G	18	5489267	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.12051756480288E-5	0.002
18	5489267	C	A	18	5489268	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.08802802279601E-5	0.004
18	5489267	C	G	18	5489268	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.08802802279601E-5	0.0
18	5489267	C	T	18	5489268	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.49702646665041E-5	0.004
18	5489268	A	C	18	5489269	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.41589968156762E-5	0.0
18	5489268	A	G	18	5489269	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.41589968156762E-5	0.0
18	5489268	A	T	18	5489269	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.41589968156762E-5	0.0
18	5489269	C	A	18	5489270	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.71811775086873E-5	0.002
18	5489269	C	G	18	5489270	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.71811775086873E-5	0.0
18	5489269	C	T	18	5489270	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.71811775086873E-5	0.002
18	5489270	C	A	18	5489271	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.49702646665041E-5	0.004
18	5489270	C	G	18	5489271	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.49702646665041E-5	0.004
18	5489270	C	T	18	5489271	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.49702646665041E-5	0.006
18	5489271	G	A	18	5489272	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	5.08291490468438E-5	0.09
18	5489271	G	C	18	5489272	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	5.08291490468438E-5	0.006
18	5489271	G	T	18	5489272	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	5.08291490468438E-5	0.008
18	5489272	T	A	18	5489273	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	4.08802802279601E-5	0.002
18	5489272	T	C	18	5489273	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.78864525412067E-5	0.0
18	5489272	T	G	18	5489273	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.78864525412067E-5	0.0
18	5508156	A	C	18	5508157	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.67779100725664E-4	0.008
18	5508156	A	G	18	5508157	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.67779100725664E-4	0.004
18	5508156	A	T	18	5508157	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.28536619264582E-4	0.004
18	5508157	T	A	18	5508158	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.09562936375766E-4	0.058
18	5508157	T	C	18	5508158	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.09562936375766E-4	0.004
18	5508157	T	G	18	5508158	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.09562936375766E-4	0.004
18	5508158	A	C	18	5508159	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00106472840520139	0.0
18	5508158	A	G	18	5508159	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00106472840520139	0.0
18	5508158	A	T	18	5508159	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00105366338095032	0.0
18	5508159	A	C	18	5508160	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00106472840520139	0.002
18	5508159	A	G	18	5508160	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00106472840520139	0.002
18	5508159	A	T	18	5508160	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00105366338095032	0.002
18	5508160	T	A	18	5508161	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.61188144420053E-4	0.012
18	5508160	T	C	18	5508161	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.59464440059759E-4	0.004
18	5508160	T	G	18	5508161	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.59464440059759E-4	0.004
18	5508161	T	A	18	5508162	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.54562844761566E-4	0.006
18	5508161	T	C	18	5508162	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.62489268407764E-4	0.002
18	5508161	T	G	18	5508162	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.62489268407764E-4	0.002
18	5508162	A	C	18	5508163	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.073866101532437	0.394
18	5508162	A	G	18	5508163	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.073866101532437	0.392
18	5508162	A	T	18	5508163	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.128274044152589	0.45
18	5508163	C	A	18	5508164	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.13324429737708E-4	0.006
18	5508163	C	G	18	5508164	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.13324429737708E-4	0.008
18	5508163	C	T	18	5508164	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.13324429737708E-4	0.076
18	5508164	C	A	18	5508165	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.30945796578933E-5	0.0
18	5508164	C	G	18	5508165	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.30945796578933E-5	0.0
18	5508164	C	T	18	5508165	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.30945796578933E-5	0.0
18	5508165	A	C	18	5508166	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.28536619264582E-4	0.008
18	5508165	A	G	18	5508166	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.28536619264582E-4	0.008
18	5508165	A	T	18	5508166	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.28536619264582E-4	0.018
18	5508166	G	A	18	5508167	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	7.04278140930798E-5	0.012
18	5508166	G	C	18	5508167	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	7.04278140930798E-5	0.012
18	5508166	G	T	18	5508167	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	7.04278140930798E-5	0.012
18	5508276	C	A	18	5508277	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.97714972400462E-4	0.046
18	5508276	C	G	18	5508277	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.97714972400462E-4	0.052
18	5508276	C	T	18	5508277	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.97714972400462E-4	0.044
18	5508277	C	A	18	5508278	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.87666936719582E-5	0.0
18	5508277	C	G	18	5508278	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.87666936719582E-5	0.0
18	5508277	C	T	18	5508278	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.87666936719582E-5	0.0
18	5508278	C	A	18	5508279	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	6.89210916601576E-5	0.0
18	5508278	C	G	18	5508279	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	6.89210916601576E-5	0.0
18	5508278	C	T	18	5508279	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	6.89210916601576E-5	0.0
18	5508279	T	A	18	5508280	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	6.89925739660516E-5	0.004
18	5508279	T	C	18	5508280	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.31929338280547E-5	0.0
18	5508279	T	G	18	5508280	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.31929338280547E-5	0.0
18	5508280	G	A	18	5508281	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.002
18	5508280	G	C	18	5508281	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.002
18	5508280	G	T	18	5508281	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.002
18	5508281	G	A	18	5508282	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.0
18	5508281	G	C	18	5508282	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.0
18	5508281	G	T	18	5508282	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.0
18	5508282	T	A	18	5508283	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.05567792764038E-5	0.004
18	5508282	T	C	18	5508283	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.74891647094722E-5	0.008
18	5508282	T	G	18	5508283	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.74891647094722E-5	0.008
18	5508283	G	A	18	5508284	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.29172098833992E-5	0.034
18	5508283	G	C	18	5508284	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.29172098833992E-5	0.034
18	5508283	G	T	18	5508284	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.29172098833992E-5	0.034
18	5508284	A	C	18	5508285	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.3994564522384E-5	0.01
18	5508284	A	G	18	5508285	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.3994564522384E-5	0.01
18	5508284	A	T	18	5508285	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.3994564522384E-5	0.014
18	5508285	T	A	18	5508286	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.13503796622452E-5	0.0
18	5508285	T	C	18	5508286	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.13503796622452E-5	0.0
18	5508285	T	G	18	5508286	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.13503796622452E-5	0.0
18	5508286	G	A	18	5508287	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.80283194928756E-5	0.0
18	5508286	G	C	18	5508287	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.80283194928756E-5	0.0
18	5508286	G	T	18	5508287	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.80283194928756E-5	0.0
18	5508287	G	A	18	5508288	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.70374452206364E-4	0.08
18	5508287	G	C	18	5508288	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.05617258756536E-4	0.082
18	5508287	G	T	18	5508288	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.05617258756536E-4	0.082
18	5508288	G	A	18	5508289	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.15941453541388E-5	0.016
18	5508288	G	C	18	5508289	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.89925739660516E-5	0.006
18	5508288	G	T	18	5508289	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.89925739660516E-5	0.008
18	5508289	G	A	18	5508290	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.78864525412067E-5	0.0
18	5508289	G	C	18	5508290	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.78864525412067E-5	0.0
18	5508289	G	T	18	5508290	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.78864525412067E-5	0.0
18	5518605	G	A	18	5518606	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.49745092444763E-5	0.0
18	5518605	G	C	18	5518606	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.49745092444763E-5	0.0
18	5518605	G	T	18	5518606	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.49745092444763E-5	0.0
18	5518606	A	C	18	5518607	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.53717286515496E-4	0.034
18	5518606	A	G	18	5518607	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.53717286515496E-4	0.058
18	5518606	A	T	18	5518607	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.53717286515496E-4	0.002
18	5518607	C	A	18	5518608	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	2.61707993540616E-5	0.0
18	5518607	C	G	18	5518608	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	2.61707993540616E-5	0.0
18	5518607	C	T	18	5518608	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	2.61707993540616E-5	0.0
18	5518608	T	A	18	5518609	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.15849948155271E-5	0.0
18	5518608	T	C	18	5518609	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.15849948155271E-5	0.0
18	5518608	T	G	18	5518609	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.15849948155271E-5	0.0
18	5518609	T	A	18	5518610	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.29827230923027E-5	0.004
18	5518609	T	C	18	5518610	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.29827230923027E-5	0.002
18	5518609	T	G	18	5518610	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.29827230923027E-5	0.002
18	5518610	A	C	18	5518611	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.84193600056129E-5	0.002
18	5518610	A	G	18	5518611	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.84193600056129E-5	0.002
18	5518610	A	T	18	5518611	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.84193600056129E-5	0.002
18	5518611	A	C	18	5518612	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.53053790298983E-5	0.0
18	5518611	A	G	18	5518612	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.53053790298983E-5	0.0
18	5518611	A	T	18	5518612	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.53053790298983E-5	0.0
18	5518612	C	A	18	5518613	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.06851136075159E-5	0.006
18	5518612	C	G	18	5518613	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.06851136075159E-5	0.016
18	5518612	C	T	18	5518613	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.06851136075159E-5	0.006
18	5518613	C	A	18	5518614	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.79241998349178E-5	0.002
18	5518613	C	G	18	5518614	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.79241998349178E-5	0.0
18	5518613	C	T	18	5518614	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.88014054966508E-5	0.002
18	5518614	A	C	18	5518615	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.08593451297961E-5	0.0
18	5518614	A	G	18	5518615	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.08593451297961E-5	0.0
18	5518614	A	T	18	5518615	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.08593451297961E-5	0.002
18	5518615	C	A	18	5518616	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.56567834969361E-5	0.0
18	5518615	C	G	18	5518616	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.56567834969361E-5	0.0
18	5518615	C	T	18	5518616	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.56567834969361E-5	0.0
18	5518616	A	C	18	5518617	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.8091518663914E-5	0.0
18	5518616	A	G	18	5518617	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.8091518663914E-5	0.0
18	5518616	A	T	18	5518617	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.01592652402579E-5	0.0
18	5518617	G	A	18	5518618	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.68952365742707E-5	0.002
18	5518617	G	C	18	5518618	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.68952365742707E-5	0.002
18	5518617	G	T	18	5518618	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.68952365742707E-5	0.002
18	5518618	G	A	18	5518619	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.04296794105923E-4	0.044
18	5518618	G	C	18	5518619	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.04296794105923E-4	0.044
18	5518618	G	T	18	5518619	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.04296794105923E-4	0.044
18	5521249	G	A	18	5521250	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.002
18	5521249	G	C	18	5521250	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.014
18	5521249	G	T	18	5521250	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.002
18	5521250	C	A	18	5521251	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.80332477406426E-5	0.004
18	5521250	C	G	18	5521251	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.80332477406426E-5	0.0
18	5521250	C	T	18	5521251	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.82683257725706E-5	0.006
18	5521251	A	C	18	5521252	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.02156764115319E-4	0.004
18	5521251	A	G	18	5521252	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.02156764115319E-4	0.004
18	5521251	A	T	18	5521252	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.06352483601688E-4	0.004
18	5521252	C	A	18	5521253	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.008
18	5521252	C	G	18	5521253	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.006
18	5521252	C	T	18	5521253	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.01
18	5521253	T	A	18	5521254	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.56756011639792E-5	0.01
18	5521253	T	C	18	5521254	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.56756011639792E-5	0.012
18	5521253	T	G	18	5521254	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.56756011639792E-5	0.012
18	5521254	C	A	18	5521255	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.01
18	5521254	C	G	18	5521255	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.006
18	5521254	C	T	18	5521255	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.52932449848953E-5	0.01
18	5521255	A	C	18	5521256	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	2.256915070725E-5	0.0
18	5521255	A	G	18	5521256	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	2.256915070725E-5	0.0
18	5521255	A	T	18	5521256	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	2.256915070725E-5	0.0
18	5521256	C	A	18	5521257	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	7.27456659313109E-5	0.0
18	5521256	C	G	18	5521257	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	7.27456659313109E-5	0.0
18	5521256	C	T	18	5521257	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	7.27456659313109E-5	0.0
18	5521257	C	A	18	5521258	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	4.52932449848953E-5	0.004
18	5521257	C	G	18	5521258	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	4.52932449848953E-5	0.004
18	5521257	C	T	18	5521258	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	4.52932449848953E-5	0.004
18	5521258	T	A	18	5521259	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.96561841590688E-4	0.004
18	5521258	T	C	18	5521259	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.06352483601688E-4	0.004
18	5521258	T	G	18	5521259	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.06352483601688E-4	0.004
18	5521259	G	A	18	5521260	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.00675832680685E-4	0.036
18	5521259	G	C	18	5521260	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.00675832680685E-4	0.0
18	5521259	G	T	18	5521260	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.00675832680685E-4	0.002
18	5528942	C	A	18	5528943	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.19654958573966E-5	0.02
18	5528942	C	G	18	5528943	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.19654958573966E-5	0.02
18	5528942	C	T	18	5528943	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.19654958573966E-5	0.022
18	5528943	T	A	18	5528944	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.10275622159801E-5	0.002
18	5528943	T	C	18	5528944	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.10275622159801E-5	0.002
18	5528943	T	G	18	5528944	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.10275622159801E-5	0.002
18	5528944	G	A	18	5528945	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.002
18	5528944	G	C	18	5528945	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.002
18	5528944	G	T	18	5528945	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.002
18	5528945	C	A	18	5528946	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.53617272819768E-5	0.0
18	5528945	C	G	18	5528946	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.53617272819768E-5	0.002
18	5528945	C	T	18	5528946	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.53617272819768E-5	0.0
18	5528946	T	A	18	5528947	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.67272766448078E-5	0.0
18	5528946	T	C	18	5528947	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.67272766448078E-5	0.0
18	5528946	T	G	18	5528947	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.67272766448078E-5	0.0
18	5528947	T	A	18	5528948	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.42005417025298E-5	0.046
18	5528947	T	C	18	5528948	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.42005417025298E-5	0.046
18	5528947	T	G	18	5528948	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.42005417025298E-5	0.046
18	5528948	A	C	18	5528949	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.9635955398612E-5	0.016
18	5528948	A	G	18	5528949	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.9635955398612E-5	0.014
18	5528948	A	T	18	5528949	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	2.96404089075045E-5	0.002
18	5528949	C	A	18	5528950	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.83488359282596E-5	0.006
18	5528949	C	G	18	5528950	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.83488359282596E-5	0.006
18	5528949	C	T	18	5528950	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.83488359282596E-5	0.006
18	5528950	C	A	18	5528951	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	7.55948984093289E-5	0.028
18	5528950	C	G	18	5528951	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	7.55948984093289E-5	0.032
18	5528950	C	T	18	5528951	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	7.55948984093289E-5	0.026
18	5528951	T	A	18	5528952	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	6.38118228050303E-4	0.01
18	5528951	T	C	18	5528952	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	6.38118228050303E-4	0.01
18	5528951	T	G	18	5528952	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	6.38118228050303E-4	0.01
18	5528952	T	A	18	5528953	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	3.77050787608786E-5	0.002
18	5528952	T	C	18	5528953	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.80994074047231E-5	0.0
18	5528952	T	G	18	5528953	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	1.80994074047231E-5	0.0
18	5539612	A	C	18	5539613	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.94081116995207E-4	0.016
18	5539612	A	G	18	5539613	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.35658515895286E-4	0.014
18	5539612	A	T	18	5539613	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.94081116995207E-4	0.01
18	5539613	C	A	18	5539614	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.75002676380762E-5	0.004
18	5539613	C	G	18	5539614	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.13324429737708E-4	0.006
18	5539613	C	T	18	5539614	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.75002676380762E-5	0.002
18	5539614	A	C	18	5539615	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.46095613822091E-5	0.002
18	5539614	A	G	18	5539615	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.46095613822091E-5	0.002
18	5539614	A	T	18	5539615	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.46095613822091E-5	0.0
18	5539615	C	A	18	5539616	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.46226529156369E-4	0.006
18	5539615	C	G	18	5539616	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.46226529156369E-4	0.002
18	5539615	C	T	18	5539616	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.32658667526046E-4	0.002
18	5539616	T	A	18	5539617	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93217030321477E-4	0.002
18	5539616	T	C	18	5539617	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.4514350275075E-4	0.002
18	5539616	T	G	18	5539617	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.4514350275075E-4	0.002
18	5539617	C	A	18	5539618	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.07088539187276E-5	0.004
18	5539617	C	G	18	5539618	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.02110355052317E-5	0.002
18	5539617	C	T	18	5539618	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.07088539187276E-5	0.002
18	5539618	A	C	18	5539619	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000584670:exon3:c.36+2T>G)	.	.	6.72768508976183E-5	0.0
18	5539618	A	G	18	5539619	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000584670:exon3:c.36+2T>C)	.	.	6.72768508976183E-5	0.0
18	5539618	A	T	18	5539619	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000584670:exon3:c.36+2T>A)	.	.	6.08540935467557E-5	0.0
18	5539619	C	A	18	5539620	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000584670:exon3:c.36+1G>T)	.	.	9.55800806316548E-5	0.0
18	5539619	C	G	18	5539620	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000584670:exon3:c.36+1G>C)	.	.	1.05356074481699E-4	0.004
18	5539619	C	T	18	5539620	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397(ENST00000584670:exon3:c.36+1G>A)	.	.	9.55800806316548E-5	0.0
18	5539620	A	C	18	5539621	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.T36G:p.H12Q;	1.02796719396129E-4	0.0
18	5539620	A	G	18	5539621	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	synonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.T36C:p.H12H;	1.34880076525739E-4	0.0
18	5539620	A	T	18	5539621	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.T36A:p.H12Q;	1.02796719396129E-4	0.004
18	5539621	T	A	18	5539622	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.A35T:p.H12L;	3.95069546638981E-5	0.0
18	5539621	T	C	18	5539622	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.A35G:p.H12R;	6.19053194304606E-5	0.0
18	5539621	T	G	18	5539622	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.A35C:p.H12P;	6.19053194304606E-5	0.0
18	5539622	G	A	18	5539623	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.C34T:p.H12Y;	1.89734469080795E-4	0.006
18	5539622	G	C	18	5539623	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.C34G:p.H12D;	1.34524398966751E-4	0.006
18	5539622	G	T	18	5539623	n	y	intronic	EPB41L3	.	.	exonic	ENSG00000082397	nonsynonymous SNV	ENSG00000082397:ENST00000584670:exon2:c.C34A:p.H12N;	1.89734469080795E-4	0.008
18	5539696	T	A	18	5539697	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	6.96737020304725E-5	0.002
18	5539696	T	C	18	5539697	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	4.84767321715395E-5	0.002
18	5539696	T	G	18	5539697	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	4.84767321715395E-5	0.002
18	5539697	A	C	18	5539698	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00206431193303344	0.022
18	5539697	A	G	18	5539698	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00206431193303344	0.022
18	5539697	A	T	18	5539698	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00238958022341925	0.024
18	5539698	C	A	18	5539699	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.88563338073588E-5	0.002
18	5539698	C	G	18	5539699	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.88563338073588E-5	0.002
18	5539698	C	T	18	5539699	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	3.88563338073588E-5	0.002
18	5539699	T	A	18	5539700	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	4.47039489069415E-5	0.0
18	5539699	T	C	18	5539700	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	4.14301101535901E-5	0.002
18	5539699	T	G	18	5539700	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	4.14301101535901E-5	0.002
18	5539700	A	C	18	5539701	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.0
18	5539700	A	G	18	5539701	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.45277156108894E-5	0.0
18	5539700	A	T	18	5539701	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.78864525412067E-5	0.004
18	5539701	T	A	18	5539702	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.68433810549259E-5	0.0
18	5539701	T	C	18	5539702	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.68433810549259E-5	0.0
18	5539701	T	G	18	5539702	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.68433810549259E-5	0.0
18	5539702	A	C	18	5539703	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.59706358747764E-5	0.0
18	5539702	A	G	18	5539703	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.59706358747764E-5	0.0
18	5539702	A	T	18	5539703	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.62965044666173E-5	0.0
18	5539703	A	C	18	5539704	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.46054017672216E-5	0.0
18	5539703	A	G	18	5539704	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.46054017672216E-5	0.0
18	5539703	A	T	18	5539704	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	8.46054017672216E-5	0.0
18	5539704	A	C	18	5539705	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.59706358747764E-5	0.004
18	5539704	A	G	18	5539705	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.59706358747764E-5	0.004
18	5539704	A	T	18	5539705	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.59706358747764E-5	0.004
18	5539705	T	A	18	5539706	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.12051782009311E-4	0.01
18	5539705	T	C	18	5539706	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.10853470952722E-4	0.02
18	5539705	T	G	18	5539706	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.10853470952722E-4	0.01
18	5539706	T	A	18	5539707	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.23111026084495E-4	0.012
18	5539706	T	C	18	5539707	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.23111026084495E-4	0.012
18	5539706	T	G	18	5539707	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.23111026084495E-4	0.014
18	5539707	C	A	18	5539708	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.60122732830353E-4	0.042
18	5539707	C	G	18	5539708	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.54135289458511E-4	0.04
18	5539707	C	T	18	5539708	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.18022282784829E-4	0.036
18	5539708	A	C	18	5539709	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.8511678204642E-4	0.004
18	5539708	A	G	18	5539709	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.8511678204642E-4	0.004
18	5539708	A	T	18	5539709	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.7750410314527E-4	0.008
18	5539709	G	A	18	5539710	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93008933363103E-5	0.002
18	5539709	G	C	18	5539710	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93008933363103E-5	0.002
18	5539709	G	T	18	5539710	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93008933363103E-5	0.002
18	5540331	A	C	18	5540332	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.90866578596279E-5	0.0
18	5540331	A	G	18	5540332	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.90866578596279E-5	0.0
18	5540331	A	T	18	5540332	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.62500938860321E-5	0.0
18	5540332	A	C	18	5540333	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00618956519279781	0.026
18	5540332	A	G	18	5540333	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00618956519279781	0.028
18	5540332	A	T	18	5540333	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00618956519279781	0.02
18	5540333	C	A	18	5540334	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.39198392998862E-4	0.002
18	5540333	C	G	18	5540334	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.39198392998862E-4	0.002
18	5540333	C	T	18	5540334	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.39198392998862E-4	0.002
18	5540334	A	C	18	5540335	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93008933363103E-5	0.0
18	5540334	A	G	18	5540335	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93008933363103E-5	0.0
18	5540334	A	T	18	5540335	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.93008933363103E-5	0.0
18	5540335	A	C	18	5540336	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	7.04117750344502E-5	0.004
18	5540335	A	G	18	5540336	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.87995666562217E-5	0.004
18	5540335	A	T	18	5540336	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.11159464097565E-5	0.004
18	5540336	T	A	18	5540337	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00618956519279781	0.02
18	5540336	T	C	18	5540337	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00475240689974496	0.026
18	5540336	T	G	18	5540337	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00475240689974496	0.026
18	5540337	A	C	18	5540338	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.00323796777374727	0.026
18	5540337	A	G	18	5540338	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.00323796777374727	0.024
18	5540337	A	T	18	5540338	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.00427833010842646	0.026
18	5540338	C	A	18	5540339	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	7.59435642788644E-4	0.004
18	5540338	C	G	18	5540339	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	7.59435642788644E-4	0.004
18	5540338	C	T	18	5540339	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.00141159556750405	0.004
18	5540339	C	A	18	5540340	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0123696162114533	0.068
18	5540339	C	G	18	5540340	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0123696162114533	0.074
18	5540339	C	T	18	5540340	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0123696162114533	0.064
18	5540340	T	A	18	5540341	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00913241204693454	0.02
18	5540340	T	C	18	5540341	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00618956519279781	0.02
18	5540340	T	G	18	5540341	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00618956519279781	0.02
18	5540341	C	A	18	5540342	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.3994564522384E-5	0.016
18	5540341	C	G	18	5540342	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.3994564522384E-5	0.016
18	5540341	C	T	18	5540342	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	2.3994564522384E-5	0.016
18	5543304	G	A	18	5543305	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.69439264402225E-5	0.0
18	5543304	G	C	18	5543305	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.69439264402225E-5	0.0
18	5543304	G	T	18	5543305	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.69439264402225E-5	0.0
18	5543305	A	C	18	5543306	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.2709332397549E-4	0.006
18	5543305	A	G	18	5543306	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.2709332397549E-4	0.006
18	5543305	A	T	18	5543306	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	2.08064770740001E-4	0.01
18	5543306	G	A	18	5543307	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00259898271596235	0.04
18	5543306	G	C	18	5543307	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00259898271596235	0.03
18	5543306	G	T	18	5543307	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00259898271596235	0.028
18	5543307	C	A	18	5543308	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.71152253843856E-4	0.002
18	5543307	C	G	18	5543308	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.71152253843856E-4	0.052
18	5543307	C	T	18	5543308	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.71152253843856E-4	0.02
18	5543308	G	A	18	5543309	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	9.26351819982407E-5	0.024
18	5543308	G	C	18	5543309	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.65823046292135E-5	0.0
18	5543308	G	T	18	5543309	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.65823046292135E-5	0.0
18	5543309	C	A	18	5543310	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	4.4707128557542E-4	0.002
18	5543309	C	G	18	5543310	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.42805648637136E-4	0.002
18	5543309	C	T	18	5543310	n	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.71152253843856E-4	0.004
18	5543310	A	C	18	5543311	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.54636443065537E-4	0.008
18	5543310	A	G	18	5543311	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.54636443065537E-4	0.008
18	5543310	A	T	18	5543311	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.95049156646856E-4	0.01
18	5543311	C	A	18	5543312	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.61821323901995E-4	0.018
18	5543311	C	G	18	5543312	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.61821323901995E-4	0.008
18	5543311	C	T	18	5543312	n	y	intronic	EPB41L3	.	.	splicing	ENSG00000082397	.	.	1.61821323901995E-4	0.012
18	5543312	C	A	18	5543313	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.3763865240508E-4	0.004
18	5543312	C	G	18	5543313	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	6.64174689006063E-4	0.004
18	5543312	C	T	18	5543313	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	8.3763865240508E-4	0.002
18	5543313	T	A	18	5543314	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00236669399226255	0.01
18	5543313	T	C	18	5543314	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00261584664080144	0.01
18	5543313	T	G	18	5543314	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00261584664080144	0.01
18	5543314	T	A	18	5543315	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00236669399226255	0.01
18	5543314	T	C	18	5543315	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00261584664080144	0.01
18	5543314	T	G	18	5543315	n	y	intronic	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.00261584664080144	0.01
18	5543904	A	C	18	5543905	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	3.16965731507989E-4	0.106
18	5543904	A	G	18	5543905	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	5.94174700677356E-4	0.0
18	5543904	A	T	18	5543905	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	1.69611537796143E-4	0.0
18	5543905	A	C	18	5543906	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0102833029481824	0.056
18	5543905	A	G	18	5543906	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0114295713651536	0.054
18	5543905	A	T	18	5543906	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0238892460844006	0.066
18	5543906	A	C	18	5543907	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.244528484507927	0.346
18	5543906	A	G	18	5543907	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.211668699744513	0.438
18	5543906	A	T	18	5543907	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.219039504209929	0.368
18	5543907	G	A	18	5543908	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.00278543212034241	0.052
18	5543907	G	C	18	5543908	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	6.81241062363307E-4	0.04
18	5543907	G	T	18	5543908	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.0043350855247363	0.116
18	5543908	T	A	18	5543909	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.85853298880846	0.676
18	5543908	T	C	18	5543909	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.975891729803124	0.776
18	5543908	T	G	18	5543909	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.940810972818879	0.638
18	5543909	T	A	18	5543910	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999955170330834	0.976
18	5543909	T	C	18	5543910	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.985340717076194	0.84
18	5543909	T	G	18	5543910	y	y	intronic	EPB41L3	.	.	intronic	ENSG00000082397	.	.	0.999847605350943	0.93
18	5543910	A	C	18	5543911	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.999967001206676	0.938
18	5543910	A	G	18	5543911	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.958669847116657	0.632
18	5543910	A	T	18	5543911	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.999967001206676	0.928
18	5543911	C	A	18	5543912	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.999961682427198	0.944
18	5543911	C	G	18	5543912	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.999961682427198	0.948
18	5543911	C	T	18	5543912	y	y	splicing	EPB41L3	.	.	splicing	ENSG00000082397	.	.	0.999961682427198	0.944
18	5543912	C	A	18	5543913	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.996842579576221	0.938
18	5543912	C	G	18	5543913	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.998558893847713	0.906
18	5543912	C	T	18	5543913	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.999762840950281	0.992
18	5543913	T	A	18	5543914	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.996198443840571	0.73
18	5543913	T	C	18	5543914	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.987873916238293	0.738
18	5543913	T	G	18	5543914	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.946346782054482	0.804
18	5543914	G	A	18	5543915	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	0.0291717009857843	0.384
18	5543914	G	C	18	5543915	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	9.01438440351084E-5	0.008
18	5543914	G	T	18	5543915	y	y	UTR5	EPB41L3	.	.	UTR5	ENSG00000082397	.	.	9.00264541888359E-5	0.012
18	5956385	T	A	18	5956386	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon20:c.A1706T:p.Q569L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon20:c.A1706T:p.Q569L;ENSG00000154655:ENST00000317931:exon19:c.A1679T:p.Q560L;ENSG00000154655:ENST00000535782:exon12:c.A1118T:p.Q373L;ENSG00000154655:ENST00000284898:exon20:c.A1706T:p.Q569L;	0.800163603258043	0.802
18	5956385	T	C	18	5956386	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon20:c.A1706G:p.Q569R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon20:c.A1706G:p.Q569R;ENSG00000154655:ENST00000317931:exon19:c.A1679G:p.Q560R;ENSG00000154655:ENST00000535782:exon12:c.A1118G:p.Q373R;ENSG00000154655:ENST00000284898:exon20:c.A1706G:p.Q569R;	0.87940083699261	0.75
18	5956385	T	G	18	5956386	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon20:c.A1706C:p.Q569P;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon20:c.A1706C:p.Q569P;ENSG00000154655:ENST00000317931:exon19:c.A1679C:p.Q560P;ENSG00000154655:ENST00000535782:exon12:c.A1118C:p.Q373P;ENSG00000154655:ENST00000284898:exon20:c.A1706C:p.Q569P;	0.838368981979413	0.744
18	5956386	G	A	18	5956387	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon20:c.C1705T:p.Q569X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon20:c.C1705T:p.Q569X;ENSG00000154655:ENST00000317931:exon19:c.C1678T:p.Q560X;ENSG00000154655:ENST00000535782:exon12:c.C1117T:p.Q373X;ENSG00000154655:ENST00000284898:exon20:c.C1705T:p.Q569X;	0.898267425086255	0.716
18	5956386	G	C	18	5956387	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon20:c.C1705G:p.Q569E;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon20:c.C1705G:p.Q569E;ENSG00000154655:ENST00000317931:exon19:c.C1678G:p.Q560E;ENSG00000154655:ENST00000535782:exon12:c.C1117G:p.Q373E;ENSG00000154655:ENST00000284898:exon20:c.C1705G:p.Q569E;	0.242841968282479	0.436
18	5956386	G	T	18	5956387	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon20:c.C1705A:p.Q569K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon20:c.C1705A:p.Q569K;ENSG00000154655:ENST00000317931:exon19:c.C1678A:p.Q560K;ENSG00000154655:ENST00000535782:exon12:c.C1117A:p.Q373K;ENSG00000154655:ENST00000284898:exon20:c.C1705A:p.Q569K;	0.460214486947542	0.572
18	5956387	C	A	18	5956388	y	y	splicing	L3MBTL4(NM_173464:exon21:c.1705-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon20:c.1678-1G>T;ENST00000400105:exon21:c.1705-1G>T;ENST00000284898:exon21:c.1705-1G>T;ENST00000535782:exon13:c.1117-1G>T)	.	.	0.999989125585301	0.944
18	5956387	C	G	18	5956388	y	y	splicing	L3MBTL4(NM_173464:exon21:c.1705-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon20:c.1678-1G>C;ENST00000400105:exon21:c.1705-1G>C;ENST00000284898:exon21:c.1705-1G>C;ENST00000535782:exon13:c.1117-1G>C)	.	.	0.999989125585301	0.944
18	5956387	C	T	18	5956388	y	y	splicing	L3MBTL4(NM_173464:exon21:c.1705-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon20:c.1678-1G>A;ENST00000400105:exon21:c.1705-1G>A;ENST00000284898:exon21:c.1705-1G>A;ENST00000535782:exon13:c.1117-1G>A)	.	.	0.999989125585301	0.944
18	5956388	T	A	18	5956389	y	y	splicing	L3MBTL4(NM_173464:exon21:c.1705-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon20:c.1678-2A>T;ENST00000400105:exon21:c.1705-2A>T;ENST00000284898:exon21:c.1705-2A>T;ENST00000535782:exon13:c.1117-2A>T)	.	.	0.999986741007567	0.946
18	5956388	T	C	18	5956389	y	y	splicing	L3MBTL4(NM_173464:exon21:c.1705-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon20:c.1678-2A>G;ENST00000400105:exon21:c.1705-2A>G;ENST00000284898:exon21:c.1705-2A>G;ENST00000535782:exon13:c.1117-2A>G)	.	.	0.999986741007567	0.946
18	5956388	T	G	18	5956389	y	y	splicing	L3MBTL4(NM_173464:exon21:c.1705-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon20:c.1678-2A>C;ENST00000400105:exon21:c.1705-2A>C;ENST00000284898:exon21:c.1705-2A>C;ENST00000535782:exon13:c.1117-2A>C)	.	.	0.999986741007567	0.946
18	5956389	G	A	18	5956390	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.602611647845592	0.434
18	5956389	G	C	18	5956390	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.999873682211088	0.978
18	5956389	G	T	18	5956390	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.996073976613941	0.954
18	5956390	C	A	18	5956391	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	4.4655668489095E-4	0.054
18	5956390	C	G	18	5956391	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.26833365979672E-4	0.058
18	5956390	C	T	18	5956391	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	3.74003655109695E-4	0.024
18	5956391	A	C	18	5956392	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.979708389576009	0.766
18	5956391	A	G	18	5956392	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.0467538234556927	0.166
18	5956391	A	T	18	5956392	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.999851416514666	0.98
18	5956392	A	C	18	5956393	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.0360642408208678	0.382
18	5956392	A	G	18	5956393	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	4.88074573848427E-5	0.03
18	5956392	A	T	18	5956393	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.0549173625388875	0.388
18	5956393	A	C	18	5956394	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.999862955472333	0.988
18	5956393	A	G	18	5956394	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	5.10273847309771E-5	0.004
18	5956393	A	T	18	5956394	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.643092546758243	0.492
18	5956394	T	A	18	5956395	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	6.59617814486541E-5	0.064
18	5956394	T	C	18	5956395	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.67652418197009E-4	0.2
18	5956394	T	G	18	5956395	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.74450499951623E-4	0.06
18	5956395	A	C	18	5956396	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.314373695442999	0.438
18	5956395	A	G	18	5956396	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	9.2875256983322E-4	0.084
18	5956395	A	T	18	5956396	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.0306117587323344	0.406
18	5956396	C	A	18	5956397	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.45612225627207E-5	0.01
18	5956396	C	G	18	5956397	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.45612225627207E-5	0.0
18	5956396	C	T	18	5956397	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	3.60675546657275E-4	0.002
18	5956397	A	C	18	5956398	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.999889078909411	0.956
18	5956397	A	G	18	5956398	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.00364592163119298	0.054
18	5956397	A	T	18	5956398	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.999921683787431	0.94
18	5956398	T	A	18	5956399	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.71869413685155E-5	0.01
18	5956398	T	C	18	5956399	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	5.21864539235322E-5	0.006
18	5956398	T	G	18	5956399	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.62353046608951E-5	0.0
18	5960085	T	A	18	5960086	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.455930068921E-5	0.0
18	5960085	T	C	18	5960086	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.83451585927357E-5	0.0
18	5960085	T	G	18	5960086	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.3995392500311E-5	0.0
18	5960086	C	A	18	5960087	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	4.57281371371786E-5	0.002
18	5960086	C	G	18	5960087	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.98449269220386E-5	0.0
18	5960086	C	T	18	5960087	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.14131246368229E-5	0.0
18	5960087	T	A	18	5960088	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	8.39579896455021E-5	0.004
18	5960087	T	C	18	5960088	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	7.77956766704271E-5	0.004
18	5960087	T	G	18	5960088	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.00160143509520296	0.02
18	5960088	C	A	18	5960089	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.946728139220678	0.598
18	5960088	C	G	18	5960089	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.93270606685565	0.686
18	5960088	C	T	18	5960089	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.988533258890531	0.698
18	5960089	T	A	18	5960090	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.315089587668044	0.236
18	5960089	T	C	18	5960090	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.365297008309276	0.302
18	5960089	T	G	18	5960090	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.185799488570485	0.216
18	5960090	T	A	18	5960091	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.996903431750035	0.868
18	5960090	T	C	18	5960091	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.101991648322673	0.466
18	5960090	T	G	18	5960091	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.997048105964905	0.888
18	5960091	A	C	18	5960092	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1704+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1677+2T>G;ENST00000400105:exon20:c.1704+2T>G;ENST00000284898:exon20:c.1704+2T>G;ENST00000535782:exon12:c.1116+2T>G)	.	.	0.999988247793601	0.932
18	5960091	A	G	18	5960092	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1704+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1677+2T>C;ENST00000400105:exon20:c.1704+2T>C;ENST00000284898:exon20:c.1704+2T>C;ENST00000535782:exon12:c.1116+2T>C)	.	.	0.99340600729494	0.686
18	5960091	A	T	18	5960092	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1704+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1677+2T>A;ENST00000400105:exon20:c.1704+2T>A;ENST00000284898:exon20:c.1704+2T>A;ENST00000535782:exon12:c.1116+2T>A)	.	.	0.999988247793601	0.932
18	5960092	C	A	18	5960093	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1704+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1677+1G>T;ENST00000400105:exon20:c.1704+1G>T;ENST00000284898:exon20:c.1704+1G>T;ENST00000535782:exon12:c.1116+1G>T)	.	.	0.999989263107695	0.934
18	5960092	C	G	18	5960093	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1704+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1677+1G>C;ENST00000400105:exon20:c.1704+1G>C;ENST00000284898:exon20:c.1704+1G>C;ENST00000535782:exon12:c.1116+1G>C)	.	.	0.999989263107695	0.934
18	5960092	C	T	18	5960093	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1704+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1677+1G>A;ENST00000400105:exon20:c.1704+1G>A;ENST00000284898:exon20:c.1704+1G>A;ENST00000535782:exon12:c.1116+1G>A)	.	.	0.999989263107695	0.934
18	5960093	C	A	18	5960094	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.G1704T:p.E568D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.G1704T:p.E568D;ENSG00000154655:ENST00000317931:exon18:c.G1677T:p.E559D;ENSG00000154655:ENST00000535782:exon11:c.G1116T:p.E372D;ENSG00000154655:ENST00000284898:exon19:c.G1704T:p.E568D;	0.999742993293463	0.928
18	5960093	C	G	18	5960094	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.G1704C:p.E568D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.G1704C:p.E568D;ENSG00000154655:ENST00000317931:exon18:c.G1677C:p.E559D;ENSG00000154655:ENST00000535782:exon11:c.G1116C:p.E372D;ENSG00000154655:ENST00000284898:exon19:c.G1704C:p.E568D;	0.999396462313465	0.86
18	5960093	C	T	18	5960094	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon19:c.G1704A:p.E568E;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.G1704A:p.E568E;ENSG00000154655:ENST00000317931:exon18:c.G1677A:p.E559E;ENSG00000154655:ENST00000535782:exon11:c.G1116A:p.E372E;ENSG00000154655:ENST00000284898:exon19:c.G1704A:p.E568E;	0.985091295977478	0.82
18	5960094	T	A	18	5960095	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.A1703T:p.E568V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.A1703T:p.E568V;ENSG00000154655:ENST00000317931:exon18:c.A1676T:p.E559V;ENSG00000154655:ENST00000535782:exon11:c.A1115T:p.E372V;ENSG00000154655:ENST00000284898:exon19:c.A1703T:p.E568V;	0.991016754855177	0.806
18	5960094	T	C	18	5960095	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.A1703G:p.E568G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.A1703G:p.E568G;ENSG00000154655:ENST00000317931:exon18:c.A1676G:p.E559G;ENSG00000154655:ENST00000535782:exon11:c.A1115G:p.E372G;ENSG00000154655:ENST00000284898:exon19:c.A1703G:p.E568G;	0.996875963548201	0.884
18	5960094	T	G	18	5960095	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.A1703C:p.E568A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.A1703C:p.E568A;ENSG00000154655:ENST00000317931:exon18:c.A1676C:p.E559A;ENSG00000154655:ENST00000535782:exon11:c.A1115C:p.E372A;ENSG00000154655:ENST00000284898:exon19:c.A1703C:p.E568A;	0.98843855441363	0.852
18	5960095	C	A	18	5960096	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon19:c.G1702T:p.E568X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon19:c.G1702T:p.E568X;ENSG00000154655:ENST00000317931:exon18:c.G1675T:p.E559X;ENSG00000154655:ENST00000535782:exon11:c.G1114T:p.E372X;ENSG00000154655:ENST00000284898:exon19:c.G1702T:p.E568X;	0.990390966944262	0.898
18	5960095	C	G	18	5960096	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.G1702C:p.E568Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.G1702C:p.E568Q;ENSG00000154655:ENST00000317931:exon18:c.G1675C:p.E559Q;ENSG00000154655:ENST00000535782:exon11:c.G1114C:p.E372Q;ENSG00000154655:ENST00000284898:exon19:c.G1702C:p.E568Q;	0.96016315069113	0.762
18	5960095	C	T	18	5960096	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.G1702A:p.E568K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.G1702A:p.E568K;ENSG00000154655:ENST00000317931:exon18:c.G1675A:p.E559K;ENSG00000154655:ENST00000535782:exon11:c.G1114A:p.E372K;ENSG00000154655:ENST00000284898:exon19:c.G1702A:p.E568K;	0.9698242871012	0.838
18	5960154	A	C	18	5960155	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.T1643G:p.V548G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.T1643G:p.V548G;ENSG00000154655:ENST00000317931:exon18:c.T1616G:p.V539G;ENSG00000154655:ENST00000535782:exon11:c.T1055G:p.V352G;ENSG00000154655:ENST00000284898:exon19:c.T1643G:p.V548G;	0.684651642188494	0.526
18	5960154	A	G	18	5960155	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.T1643C:p.V548A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.T1643C:p.V548A;ENSG00000154655:ENST00000317931:exon18:c.T1616C:p.V539A;ENSG00000154655:ENST00000535782:exon11:c.T1055C:p.V352A;ENSG00000154655:ENST00000284898:exon19:c.T1643C:p.V548A;	0.633359711205444	0.536
18	5960154	A	T	18	5960155	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.T1643A:p.V548E;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.T1643A:p.V548E;ENSG00000154655:ENST00000317931:exon18:c.T1616A:p.V539E;ENSG00000154655:ENST00000535782:exon11:c.T1055A:p.V352E;ENSG00000154655:ENST00000284898:exon19:c.T1643A:p.V548E;	0.340587600246587	0.568
18	5960155	C	A	18	5960156	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.G1642T:p.V548L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.G1642T:p.V548L;ENSG00000154655:ENST00000317931:exon18:c.G1615T:p.V539L;ENSG00000154655:ENST00000535782:exon11:c.G1054T:p.V352L;ENSG00000154655:ENST00000284898:exon19:c.G1642T:p.V548L;	0.999211069429747	0.978
18	5960155	C	G	18	5960156	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.G1642C:p.V548L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.G1642C:p.V548L;ENSG00000154655:ENST00000317931:exon18:c.G1615C:p.V539L;ENSG00000154655:ENST00000535782:exon11:c.G1054C:p.V352L;ENSG00000154655:ENST00000284898:exon19:c.G1642C:p.V548L;	0.990281393266737	0.872
18	5960155	C	T	18	5960156	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon19:c.G1642A:p.V548M;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon19:c.G1642A:p.V548M;ENSG00000154655:ENST00000317931:exon18:c.G1615A:p.V539M;ENSG00000154655:ENST00000535782:exon11:c.G1054A:p.V352M;ENSG00000154655:ENST00000284898:exon19:c.G1642A:p.V548M;	0.656647763789262	0.582
18	5960156	C	A	18	5960157	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1642-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1615-1G>T;ENST00000400105:exon20:c.1642-1G>T;ENST00000284898:exon20:c.1642-1G>T;ENST00000535782:exon12:c.1054-1G>T)	.	.	0.999986675681007	0.93
18	5960156	C	G	18	5960157	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1642-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1615-1G>C;ENST00000400105:exon20:c.1642-1G>C;ENST00000284898:exon20:c.1642-1G>C;ENST00000535782:exon12:c.1054-1G>C)	.	.	0.999986675681007	0.93
18	5960156	C	T	18	5960157	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1642-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1615-1G>A;ENST00000400105:exon20:c.1642-1G>A;ENST00000284898:exon20:c.1642-1G>A;ENST00000535782:exon12:c.1054-1G>A)	.	.	0.999986675681007	0.93
18	5960157	T	A	18	5960158	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1642-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1615-2A>T;ENST00000400105:exon20:c.1642-2A>T;ENST00000284898:exon20:c.1642-2A>T;ENST00000535782:exon12:c.1054-2A>T)	.	.	0.999921220914204	0.9
18	5960157	T	C	18	5960158	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1642-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1615-2A>G;ENST00000400105:exon20:c.1642-2A>G;ENST00000284898:exon20:c.1642-2A>G;ENST00000535782:exon12:c.1054-2A>G)	.	.	0.999921947234823	0.906
18	5960157	T	G	18	5960158	y	y	splicing	L3MBTL4(NM_173464:exon20:c.1642-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon19:c.1615-2A>C;ENST00000400105:exon20:c.1642-2A>C;ENST00000284898:exon20:c.1642-2A>C;ENST00000535782:exon12:c.1054-2A>C)	.	.	0.999921947234823	0.906
18	5960158	A	C	18	5960159	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.994898553360379	0.668
18	5960158	A	G	18	5960159	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.09544535420615E-4	0.002
18	5960158	A	T	18	5960159	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.156705309611271	0.326
18	5960159	C	A	18	5960160	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	7.89182143120489E-6	0.0
18	5960159	C	G	18	5960160	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	3.96426512889653E-6	0.0
18	5960159	C	T	18	5960160	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.22696826912743E-5	0.0
18	5960160	A	C	18	5960161	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.603679667017403	0.596
18	5960160	A	G	18	5960161	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	6.36508278340284E-5	0.036
18	5960160	A	T	18	5960161	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.99958054298594	0.958
18	5960161	G	A	18	5960162	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	1.20131187484144E-4	0.004
18	5960161	G	C	18	5960162	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.999015818143076	0.94
18	5960161	G	T	18	5960162	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.00964092067021842	0.238
18	5960162	T	A	18	5960163	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	9.46013946481552E-6	0.012
18	5960162	T	C	18	5960163	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.78693259039559E-5	0.012
18	5960162	T	G	18	5960163	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	9.46013946481552E-6	0.014
18	5960163	G	A	18	5960164	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.08630361134201E-5	0.0
18	5960163	G	C	18	5960164	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	4.72110794658913E-4	0.054
18	5960163	G	T	18	5960164	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.29308634073484E-4	0.04
18	5960164	C	A	18	5960165	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	7.40158433888594E-5	0.044
18	5960164	C	G	18	5960165	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	8.37700862381713E-5	0.0
18	5960164	C	T	18	5960165	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	3.22522622166728E-4	0.01
18	5960165	G	A	18	5960166	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.36077018770431E-5	0.0
18	5960165	G	C	18	5960166	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	9.68071049744135E-4	0.044
18	5960165	G	T	18	5960166	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.990098580680409	0.93
18	5960166	A	C	18	5960167	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.403163924552407	0.562
18	5960166	A	G	18	5960167	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	6.32609375675352E-4	0.124
18	5960166	A	T	18	5960167	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	0.752900050002627	0.56
18	5960167	G	A	18	5960168	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.54410476350963E-5	0.0
18	5960167	G	C	18	5960168	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	2.38341441389998E-4	0.018
18	5960167	G	T	18	5960168	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000265487	.	.	8.53692911382958E-5	0.004
18	5969384	C	A	18	5969385	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.7106675465155E-5	0.002
18	5969384	C	G	18	5969385	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.73386572137077E-5	0.004
18	5969384	C	T	18	5969385	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.7106675465155E-5	0.002
18	5969385	C	A	18	5969386	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.05340558066016E-5	0.0
18	5969385	C	G	18	5969386	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.5130317145273E-6	0.0
18	5969385	C	T	18	5969386	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.46943146973048E-5	0.0
18	5969386	A	C	18	5969387	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.65050521737039E-4	0.034
18	5969386	A	G	18	5969387	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00233123698267318	0.05
18	5969386	A	T	18	5969387	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00378458058265448	0.074
18	5969387	C	A	18	5969388	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.994171822022699	0.568
18	5969387	C	G	18	5969388	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.977672215823632	0.584
18	5969387	C	T	18	5969388	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.989228861224098	0.654
18	5969388	T	A	18	5969389	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.825325806695502	0.464
18	5969388	T	C	18	5969389	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.538917666431648	0.47
18	5969388	T	G	18	5969389	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.179214804702848	0.31
18	5969389	C	A	18	5969390	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0226598293422219	0.312
18	5969389	C	G	18	5969390	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0279273424706533	0.34
18	5969389	C	T	18	5969390	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.523800311071E-5	0.0
18	5969390	A	C	18	5969391	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1641+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1614+2T>G;ENST00000400105:exon19:c.1641+2T>G;ENST00000284898:exon19:c.1641+2T>G;ENST00000535782:exon11:c.1053+2T>G)	.	.	0.999984585780004	0.824
18	5969390	A	G	18	5969391	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1641+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1614+2T>C;ENST00000400105:exon19:c.1641+2T>C;ENST00000284898:exon19:c.1641+2T>C;ENST00000535782:exon11:c.1053+2T>C)	.	.	0.999435463855554	0.8
18	5969390	A	T	18	5969391	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1641+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1614+2T>A;ENST00000400105:exon19:c.1641+2T>A;ENST00000284898:exon19:c.1641+2T>A;ENST00000535782:exon11:c.1053+2T>A)	.	.	0.999984585780004	0.826
18	5969391	C	A	18	5969392	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1641+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1614+1G>T;ENST00000400105:exon19:c.1641+1G>T;ENST00000284898:exon19:c.1641+1G>T;ENST00000535782:exon11:c.1053+1G>T)	.	.	0.999985532734767	0.934
18	5969391	C	G	18	5969392	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1641+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1614+1G>C;ENST00000400105:exon19:c.1641+1G>C;ENST00000284898:exon19:c.1641+1G>C;ENST00000535782:exon11:c.1053+1G>C)	.	.	0.999985532734767	0.934
18	5969391	C	T	18	5969392	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1641+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1614+1G>A;ENST00000400105:exon19:c.1641+1G>A;ENST00000284898:exon19:c.1641+1G>A;ENST00000535782:exon11:c.1053+1G>A)	.	.	0.999985532734767	0.934
18	5969392	C	A	18	5969393	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.G1641T:p.E547D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.G1641T:p.E547D;ENSG00000154655:ENST00000317931:exon17:c.G1614T:p.E538D;ENSG00000154655:ENST00000535782:exon10:c.G1053T:p.E351D;ENSG00000154655:ENST00000284898:exon18:c.G1641T:p.E547D;	0.842179728370805	0.628
18	5969392	C	G	18	5969393	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.G1641C:p.E547D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.G1641C:p.E547D;ENSG00000154655:ENST00000317931:exon17:c.G1614C:p.E538D;ENSG00000154655:ENST00000535782:exon10:c.G1053C:p.E351D;ENSG00000154655:ENST00000284898:exon18:c.G1641C:p.E547D;	0.850991056338439	0.672
18	5969392	C	T	18	5969393	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon18:c.G1641A:p.E547E;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.G1641A:p.E547E;ENSG00000154655:ENST00000317931:exon17:c.G1614A:p.E538E;ENSG00000154655:ENST00000535782:exon10:c.G1053A:p.E351E;ENSG00000154655:ENST00000284898:exon18:c.G1641A:p.E547E;	0.194493140366413	0.336
18	5969393	T	A	18	5969394	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.A1640T:p.E547V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1640T:p.E547V;ENSG00000154655:ENST00000317931:exon17:c.A1613T:p.E538V;ENSG00000154655:ENST00000535782:exon10:c.A1052T:p.E351V;ENSG00000154655:ENST00000284898:exon18:c.A1640T:p.E547V;	0.902955151446016	0.698
18	5969393	T	C	18	5969394	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.A1640G:p.E547G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1640G:p.E547G;ENSG00000154655:ENST00000317931:exon17:c.A1613G:p.E538G;ENSG00000154655:ENST00000535782:exon10:c.A1052G:p.E351G;ENSG00000154655:ENST00000284898:exon18:c.A1640G:p.E547G;	0.926131879075274	0.666
18	5969393	T	G	18	5969394	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.A1640C:p.E547A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1640C:p.E547A;ENSG00000154655:ENST00000317931:exon17:c.A1613C:p.E538A;ENSG00000154655:ENST00000535782:exon10:c.A1052C:p.E351A;ENSG00000154655:ENST00000284898:exon18:c.A1640C:p.E547A;	0.221321101640341	0.566
18	5969394	C	A	18	5969395	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon18:c.G1639T:p.E547X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon18:c.G1639T:p.E547X;ENSG00000154655:ENST00000317931:exon17:c.G1612T:p.E538X;ENSG00000154655:ENST00000535782:exon10:c.G1051T:p.E351X;ENSG00000154655:ENST00000284898:exon18:c.G1639T:p.E547X;	0.00202029616413006	0.338
18	5969394	C	G	18	5969395	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.G1639C:p.E547Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.G1639C:p.E547Q;ENSG00000154655:ENST00000317931:exon17:c.G1612C:p.E538Q;ENSG00000154655:ENST00000535782:exon10:c.G1051C:p.E351Q;ENSG00000154655:ENST00000284898:exon18:c.G1639C:p.E547Q;	9.1223081618803E-5	0.004
18	5969394	C	T	18	5969395	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.G1639A:p.E547K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.G1639A:p.E547K;ENSG00000154655:ENST00000317931:exon17:c.G1612A:p.E538K;ENSG00000154655:ENST00000535782:exon10:c.G1051A:p.E351K;ENSG00000154655:ENST00000284898:exon18:c.G1639A:p.E547K;	6.58715878303738E-5	0.006
18	5969560	T	A	18	5969561	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.A1473T:p.E491D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1473T:p.E491D;ENSG00000154655:ENST00000317931:exon17:c.A1446T:p.E482D;ENSG00000154655:ENST00000535782:exon10:c.A885T:p.E295D;ENSG00000154655:ENST00000284898:exon18:c.A1473T:p.E491D;	3.46527838973034E-6	0.112
18	5969560	T	C	18	5969561	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon18:c.A1473G:p.E491E;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1473G:p.E491E;ENSG00000154655:ENST00000317931:exon17:c.A1446G:p.E482E;ENSG00000154655:ENST00000535782:exon10:c.A885G:p.E295E;ENSG00000154655:ENST00000284898:exon18:c.A1473G:p.E491E;	3.61492054998562E-5	0.022
18	5969560	T	G	18	5969561	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.A1473C:p.E491D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1473C:p.E491D;ENSG00000154655:ENST00000317931:exon17:c.A1446C:p.E482D;ENSG00000154655:ENST00000535782:exon10:c.A885C:p.E295D;ENSG00000154655:ENST00000284898:exon18:c.A1473C:p.E491D;	1.00043419718684E-4	0.082
18	5969561	T	A	18	5969562	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.A1472T:p.E491V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1472T:p.E491V;ENSG00000154655:ENST00000317931:exon17:c.A1445T:p.E482V;ENSG00000154655:ENST00000535782:exon10:c.A884T:p.E295V;ENSG00000154655:ENST00000284898:exon18:c.A1472T:p.E491V;	5.87389354153749E-4	0.028
18	5969561	T	C	18	5969562	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.A1472G:p.E491G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1472G:p.E491G;ENSG00000154655:ENST00000317931:exon17:c.A1445G:p.E482G;ENSG00000154655:ENST00000535782:exon10:c.A884G:p.E295G;ENSG00000154655:ENST00000284898:exon18:c.A1472G:p.E491G;	3.79339926742978E-5	0.008
18	5969561	T	G	18	5969562	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon18:c.A1472C:p.E491A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon18:c.A1472C:p.E491A;ENSG00000154655:ENST00000317931:exon17:c.A1445C:p.E482A;ENSG00000154655:ENST00000535782:exon10:c.A884C:p.E295A;ENSG00000154655:ENST00000284898:exon18:c.A1472C:p.E491A;	6.20416695180906E-4	0.024
18	5969562	C	A	18	5969563	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1472-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1445-1G>T;ENST00000400105:exon19:c.1472-1G>T;ENST00000284898:exon19:c.1472-1G>T;ENST00000535782:exon11:c.884-1G>T)	.	.	0.999933757597683	0.948
18	5969562	C	G	18	5969563	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1472-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1445-1G>C;ENST00000400105:exon19:c.1472-1G>C;ENST00000284898:exon19:c.1472-1G>C;ENST00000535782:exon11:c.884-1G>C)	.	.	0.999933757597683	0.948
18	5969562	C	T	18	5969563	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1472-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1445-1G>A;ENST00000400105:exon19:c.1472-1G>A;ENST00000284898:exon19:c.1472-1G>A;ENST00000535782:exon11:c.884-1G>A)	.	.	0.99993314117114	0.948
18	5969563	T	A	18	5969564	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1472-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1445-2A>T;ENST00000400105:exon19:c.1472-2A>T;ENST00000284898:exon19:c.1472-2A>T;ENST00000535782:exon11:c.884-2A>T)	.	.	0.999945652454398	0.93
18	5969563	T	C	18	5969564	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1472-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1445-2A>G;ENST00000400105:exon19:c.1472-2A>G;ENST00000284898:exon19:c.1472-2A>G;ENST00000535782:exon11:c.884-2A>G)	.	.	0.999938221968836	0.896
18	5969563	T	G	18	5969564	y	y	splicing	L3MBTL4(NM_173464:exon19:c.1472-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon18:c.1445-2A>C;ENST00000400105:exon19:c.1472-2A>C;ENST00000284898:exon19:c.1472-2A>C;ENST00000535782:exon11:c.884-2A>C)	.	.	0.999896524849718	0.898
18	5969564	G	A	18	5969565	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00347915296262491	0.042
18	5969564	G	C	18	5969565	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999638880859568	0.966
18	5969564	G	T	18	5969565	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.986219533736838	0.644
18	5969565	T	A	18	5969566	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.10826219570204E-4	0.004
18	5969565	T	C	18	5969566	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.03113930350615E-5	0.002
18	5969565	T	G	18	5969566	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.08309683760952E-5	0.0
18	5969566	A	C	18	5969567	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0394881186503207	0.28
18	5969566	A	G	18	5969567	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.66001599107574E-4	0.028
18	5969566	A	T	18	5969567	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0193699330861875	0.176
18	5969567	A	C	18	5969568	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0809305266925787	0.252
18	5969567	A	G	18	5969568	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.39745007156295E-4	0.068
18	5969567	A	T	18	5969568	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0773947274215636	0.222
18	5969568	G	A	18	5969569	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.20463358184742E-5	0.004
18	5969568	G	C	18	5969569	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.26905124747773E-4	0.008
18	5969568	G	T	18	5969569	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00199378004306027	0.036
18	5969569	A	C	18	5969570	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00394716467320383	0.114
18	5969569	A	G	18	5969570	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.21121884127561E-5	0.0
18	5969569	A	T	18	5969570	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00275517297381566	0.08
18	5969570	G	A	18	5969571	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.53477249960208E-5	0.002
18	5969570	G	C	18	5969571	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00136885978245648	0.102
18	5969570	G	T	18	5969571	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.21399891134313E-4	0.048
18	5969571	A	C	18	5969572	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.88154532812321E-4	0.17
18	5969571	A	G	18	5969572	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.44686393035572E-5	0.002
18	5969571	A	T	18	5969572	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00306346410134863	0.164
18	5969572	G	A	18	5969573	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.16005179957274E-5	0.0
18	5969572	G	C	18	5969573	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.11001146857762E-4	0.0
18	5969572	G	T	18	5969573	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.8867724661078E-4	0.016
18	5969573	G	A	18	5969574	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.30815633623707E-4	0.02
18	5969573	G	C	18	5969574	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999747485771278	0.96
18	5969573	G	T	18	5969574	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00687797260844962	0.242
18	6032273	G	A	18	6032274	n	y	intronic	L3MBTL4	.	.	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400104:exon17:c.C1446T:p.G482G;	1.08378557604853E-5	0.0
18	6032273	G	C	18	6032274	n	y	intronic	L3MBTL4	.	.	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400104:exon17:c.C1446G:p.G482G;	1.08378557604853E-5	0.0
18	6032273	G	T	18	6032274	n	y	intronic	L3MBTL4	.	.	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400104:exon17:c.C1446A:p.G482G;	1.08378557604853E-5	0.0
18	6032274	C	A	18	6032275	n	y	intronic	L3MBTL4	.	.	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400104:exon17:c.G1445T:p.G482V;	4.28766987286446E-5	0.008
18	6032274	C	G	18	6032275	n	y	intronic	L3MBTL4	.	.	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400104:exon17:c.G1445C:p.G482A;	1.98147604991153E-5	0.0
18	6032274	C	T	18	6032275	n	y	intronic	L3MBTL4	.	.	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400104:exon17:c.G1445A:p.G482D;	3.20639154229398E-5	0.0
18	6032275	C	A	18	6032276	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655(ENST00000400104:exon18:c.1445-1G>T)	.	.	1.67406935090243E-5	0.0
18	6032275	C	G	18	6032276	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655(ENST00000400104:exon18:c.1445-1G>C)	.	.	1.67406935090243E-5	0.0
18	6032275	C	T	18	6032276	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655(ENST00000400104:exon18:c.1445-1G>A)	.	.	1.67406935090243E-5	0.0
18	6032276	T	A	18	6032277	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655(ENST00000400104:exon18:c.1445-2A>T)	.	.	6.7395485643605E-5	0.006
18	6032276	T	C	18	6032277	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655(ENST00000400104:exon18:c.1445-2A>G)	.	.	2.83935518155002E-5	0.004
18	6032276	T	G	18	6032277	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655(ENST00000400104:exon18:c.1445-2A>C)	.	.	2.83935518155002E-5	0.004
18	6032277	T	A	18	6032278	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032277	T	C	18	6032278	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032277	T	G	18	6032278	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032278	A	C	18	6032279	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032278	A	G	18	6032279	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032278	A	T	18	6032279	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032279	A	C	18	6032280	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032279	A	G	18	6032280	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032279	A	T	18	6032280	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032280	A	C	18	6032281	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032280	A	G	18	6032281	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032280	A	T	18	6032281	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032281	T	A	18	6032282	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.83935518155002E-5	0.0
18	6032281	T	C	18	6032282	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032281	T	G	18	6032282	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032282	T	A	18	6032283	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.83935518155002E-5	0.0
18	6032282	T	C	18	6032283	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032282	T	G	18	6032283	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.63141535133926E-5	0.0
18	6032283	A	C	18	6032284	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.76699047081367E-5	0.024
18	6032283	A	G	18	6032284	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.76699047081367E-5	0.01
18	6032283	A	T	18	6032284	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.56483984486642E-5	0.0
18	6032284	A	C	18	6032285	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.76699047081367E-5	0.072
18	6032284	A	G	18	6032285	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.76699047081367E-5	0.12
18	6032284	A	T	18	6032285	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.56483984486642E-5	0.0
18	6032285	A	C	18	6032286	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.56483984486642E-5	0.014
18	6032285	A	G	18	6032286	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.76699047081367E-5	0.018
18	6032285	A	T	18	6032286	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.56483984486642E-5	0.0
18	6032286	A	C	18	6032287	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.56483984486642E-5	0.012
18	6032286	A	G	18	6032287	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.56483984486642E-5	0.012
18	6032286	A	T	18	6032287	n	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.56483984486642E-5	0.0
18	6046719	C	A	18	6046720	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	1.80576877278223E-4	0.008
18	6046719	C	G	18	6046720	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.31288749364992E-5	0.004
18	6046719	C	T	18	6046720	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	1.35043111279135E-4	0.004
18	6046720	A	C	18	6046721	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.63055045914417E-5	0.004
18	6046720	A	G	18	6046721	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.75207388083248E-5	0.004
18	6046720	A	T	18	6046721	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.75207388083248E-5	0.002
18	6046721	A	C	18	6046722	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00933547592383864	0.134
18	6046721	A	G	18	6046722	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0142312478018748	0.22
18	6046721	A	T	18	6046722	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0385534163356178	0.152
18	6046722	C	A	18	6046723	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.9893465467398	0.538
18	6046722	C	G	18	6046723	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.998760243013228	0.766
18	6046722	C	T	18	6046723	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.9963831227191	0.674
18	6046723	T	A	18	6046724	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.175659918146404	0.25
18	6046723	T	C	18	6046724	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.112476938872456	0.224
18	6046723	T	G	18	6046724	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0870106645625094	0.26
18	6046724	T	A	18	6046725	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.798022050212406	0.402
18	6046724	T	C	18	6046725	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.43014872930005E-4	0.018
18	6046724	T	G	18	6046725	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.293807363216193	0.408
18	6046725	A	C	18	6046726	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1471+2T>G)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1471+2T>G;ENST00000284898:exon18:c.1471+2T>G)	.	.	0.999980535492709	0.756
18	6046725	A	G	18	6046726	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1471+2T>C)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1471+2T>C;ENST00000284898:exon18:c.1471+2T>C)	.	.	0.911275967276885	0.484
18	6046725	A	T	18	6046726	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1471+2T>A)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1471+2T>A;ENST00000284898:exon18:c.1471+2T>A)	.	.	0.999980535492709	0.76
18	6046726	C	A	18	6046727	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1471+1G>T)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1471+1G>T;ENST00000284898:exon18:c.1471+1G>T)	.	.	0.999968624618023	0.748
18	6046726	C	G	18	6046727	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1471+1G>C)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1471+1G>C;ENST00000284898:exon18:c.1471+1G>C)	.	.	0.999968624618023	0.75
18	6046726	C	T	18	6046727	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1471+1G>A)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1471+1G>A;ENST00000284898:exon18:c.1471+1G>A)	.	.	0.999968624618023	0.754
18	6046727	C	A	18	6046728	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon17:c.G1471T:p.E491X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon17:c.G1471T:p.E491X;ENSG00000154655:ENST00000284898:exon17:c.G1471T:p.E491X;	0.997177473703493	0.78
18	6046727	C	G	18	6046728	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.G1471C:p.E491Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.G1471C:p.E491Q;ENSG00000154655:ENST00000284898:exon17:c.G1471C:p.E491Q;	0.861279882367594	0.724
18	6046727	C	T	18	6046728	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.G1471A:p.E491K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.G1471A:p.E491K;ENSG00000154655:ENST00000284898:exon17:c.G1471A:p.E491K;	0.825789507816419	0.73
18	6046728	C	A	18	6046729	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.G1470T:p.L490F;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.G1470T:p.L490F;ENSG00000154655:ENST00000284898:exon17:c.G1470T:p.L490F;	1.21021880761601E-4	0.022
18	6046728	C	G	18	6046729	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.G1470C:p.L490F;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.G1470C:p.L490F;ENSG00000154655:ENST00000284898:exon17:c.G1470C:p.L490F;	9.7618977530793E-5	0.026
18	6046728	C	T	18	6046729	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon17:c.G1470A:p.L490L;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.G1470A:p.L490L;ENSG00000154655:ENST00000284898:exon17:c.G1470A:p.L490L;	1.25713410216847E-4	0.09
18	6046729	A	C	18	6046730	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.T1469G:p.L490W;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.T1469G:p.L490W;ENSG00000154655:ENST00000284898:exon17:c.T1469G:p.L490W;	4.91590133758151E-5	0.028
18	6046729	A	G	18	6046730	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.T1469C:p.L490S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.T1469C:p.L490S;ENSG00000154655:ENST00000284898:exon17:c.T1469C:p.L490S;	1.36834991236319E-5	0.002
18	6046729	A	T	18	6046730	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon17:c.T1469A:p.L490X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon17:c.T1469A:p.L490X;ENSG00000154655:ENST00000284898:exon17:c.T1469A:p.L490X;	1.3184267031757E-4	0.28
18	6046752	C	A	18	6046753	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon17:c.G1446T:p.V482V;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.G1446T:p.V482V;ENSG00000154655:ENST00000284898:exon17:c.G1446T:p.V482V;	1.72479528749849E-4	0.002
18	6046752	C	G	18	6046753	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon17:c.G1446C:p.V482V;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.G1446C:p.V482V;ENSG00000154655:ENST00000284898:exon17:c.G1446C:p.V482V;	2.50800180630081E-4	0.002
18	6046752	C	T	18	6046753	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon17:c.G1446A:p.V482V;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.G1446A:p.V482V;ENSG00000154655:ENST00000284898:exon17:c.G1446A:p.V482V;	6.05017225776259E-4	0.012
18	6046753	A	C	18	6046754	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.T1445G:p.V482G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.T1445G:p.V482G;ENSG00000154655:ENST00000284898:exon17:c.T1445G:p.V482G;	5.65068936477338E-4	0.154
18	6046753	A	G	18	6046754	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.T1445C:p.V482A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.T1445C:p.V482A;ENSG00000154655:ENST00000284898:exon17:c.T1445C:p.V482A;	1.11671885622787E-5	0.004
18	6046753	A	T	18	6046754	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon17:c.T1445A:p.V482E;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon17:c.T1445A:p.V482E;ENSG00000154655:ENST00000284898:exon17:c.T1445A:p.V482E;	1.00242796487277E-5	0.002
18	6046754	C	A	18	6046755	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1445-1G>T)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1445-1G>T;ENST00000284898:exon18:c.1445-1G>T)	.	.	0.999948083378397	0.902
18	6046754	C	G	18	6046755	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1445-1G>C)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1445-1G>C;ENST00000284898:exon18:c.1445-1G>C)	.	.	0.999929681817628	0.872
18	6046754	C	T	18	6046755	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1445-1G>A)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1445-1G>A;ENST00000284898:exon18:c.1445-1G>A)	.	.	0.999949833242292	0.904
18	6046755	T	A	18	6046756	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1445-2A>T)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1445-2A>T;ENST00000284898:exon18:c.1445-2A>T)	.	.	0.999968877568153	0.908
18	6046755	T	C	18	6046756	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1445-2A>G)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1445-2A>G;ENST00000284898:exon18:c.1445-2A>G)	.	.	0.999968877568153	0.904
18	6046755	T	G	18	6046756	y	y	splicing	L3MBTL4(NM_173464:exon18:c.1445-2A>C)	.	.	splicing	ENSG00000154655(ENST00000400105:exon18:c.1445-2A>C;ENST00000284898:exon18:c.1445-2A>C)	.	.	0.999968877568153	0.904
18	6046756	G	A	18	6046757	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00607792355141332	0.054
18	6046756	G	C	18	6046757	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.999923428676465	0.966
18	6046756	G	T	18	6046757	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.645489101856458	0.552
18	6046757	T	A	18	6046758	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.74168716580295E-4	0.01
18	6046757	T	C	18	6046758	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	1.56843625720505E-4	0.012
18	6046757	T	G	18	6046758	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	9.12539915539726E-5	0.01
18	6046758	G	A	18	6046759	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	1.10504804067897E-4	0.002
18	6046758	G	C	18	6046759	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	6.0530750556113E-4	0.024
18	6046758	G	T	18	6046759	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	7.45137585020416E-4	0.022
18	6046759	A	C	18	6046760	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00100160627858357	0.124
18	6046759	A	G	18	6046760	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.86107464835171E-5	0.012
18	6046759	A	T	18	6046760	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00114834047979963	0.054
18	6046760	A	C	18	6046761	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00318503002859042	0.056
18	6046760	A	G	18	6046761	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	7.28531201521591E-5	0.002
18	6046760	A	T	18	6046761	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00369785480330291	0.062
18	6046761	G	A	18	6046762	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	1.98585498198588E-4	0.002
18	6046761	G	C	18	6046762	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.23330011074335E-4	0.034
18	6046761	G	T	18	6046762	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00644268889202478	0.056
18	6046762	A	C	18	6046763	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00757911723332882	0.08
18	6046762	A	G	18	6046763	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.19553658072282E-4	0.018
18	6046762	A	T	18	6046763	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0256356278974171	0.158
18	6046763	G	A	18	6046764	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.49209223251059E-4	0.004
18	6046763	G	C	18	6046764	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00388494252650431	0.036
18	6046763	G	T	18	6046764	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00920554490630669	0.038
18	6046764	A	C	18	6046765	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.021171149345701	0.242
18	6046764	A	G	18	6046765	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	7.69996964653529E-4	0.022
18	6046764	A	T	18	6046765	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00856194410805652	0.3
18	6046765	A	C	18	6046766	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0019664556803108	0.066
18	6046765	A	G	18	6046766	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	7.27887040826758E-4	0.028
18	6046765	A	T	18	6046766	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00370750524388352	0.088
18	6080872	G	A	18	6080873	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.44647656074732E-5	0.012
18	6080872	G	C	18	6080873	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	1.27176271563638E-5	0.014
18	6080872	G	T	18	6080873	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.00995523423517E-5	0.014
18	6080873	T	A	18	6080874	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	1.06287331784476E-4	0.014
18	6080873	T	C	18	6080874	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	6.2880787888959E-5	0.08
18	6080873	T	G	18	6080874	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	2.37384753621929E-5	0.02
18	6080874	T	A	18	6080875	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.32329894496542E-6	0.0
18	6080874	T	C	18	6080875	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.43651616957916E-6	0.006
18	6080874	T	G	18	6080875	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	1.56597775293249E-5	0.032
18	6080875	T	A	18	6080876	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0017278960626733	0.108
18	6080875	T	C	18	6080876	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	5.09791853878466E-4	0.052
18	6080875	T	G	18	6080876	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.075791392771E-4	0.054
18	6080876	T	A	18	6080877	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.998005011965143	0.862
18	6080876	T	C	18	6080877	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.996561827353647	0.918
18	6080876	T	G	18	6080877	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.980296583722913	0.728
18	6080877	T	A	18	6080878	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.999936686309284	0.974
18	6080877	T	C	18	6080878	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.998371390180088	0.908
18	6080877	T	G	18	6080878	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.999963605331976	0.974
18	6080878	A	C	18	6080879	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1444+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1444+2T>G;ENST00000400105:exon17:c.1444+2T>G;ENST00000284898:exon17:c.1444+2T>G;ENST00000535782:exon10:c.883+2T>G;ENST00000400104:exon17:c.1444+2T>G)	.	.	0.999988247793601	0.952
18	6080878	A	G	18	6080879	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1444+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1444+2T>C;ENST00000400105:exon17:c.1444+2T>C;ENST00000284898:exon17:c.1444+2T>C;ENST00000535782:exon10:c.883+2T>C;ENST00000400104:exon17:c.1444+2T>C)	.	.	0.98918007292081	0.65
18	6080878	A	T	18	6080879	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1444+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1444+2T>A;ENST00000400105:exon17:c.1444+2T>A;ENST00000284898:exon17:c.1444+2T>A;ENST00000535782:exon10:c.883+2T>A;ENST00000400104:exon17:c.1444+2T>A)	.	.	0.999988247793601	0.952
18	6080879	C	A	18	6080880	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1444+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1444+1G>T;ENST00000400105:exon17:c.1444+1G>T;ENST00000284898:exon17:c.1444+1G>T;ENST00000535782:exon10:c.883+1G>T;ENST00000400104:exon17:c.1444+1G>T)	.	.	0.999976206550861	0.934
18	6080879	C	G	18	6080880	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1444+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1444+1G>C;ENST00000400105:exon17:c.1444+1G>C;ENST00000284898:exon17:c.1444+1G>C;ENST00000535782:exon10:c.883+1G>C;ENST00000400104:exon17:c.1444+1G>C)	.	.	0.999976206550861	0.934
18	6080879	C	T	18	6080880	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1444+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1444+1G>A;ENST00000400105:exon17:c.1444+1G>A;ENST00000284898:exon17:c.1444+1G>A;ENST00000535782:exon10:c.883+1G>A;ENST00000400104:exon17:c.1444+1G>A)	.	.	0.999976206550861	0.934
18	6080880	C	A	18	6080881	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.G1444T:p.V482L;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000317931:exon16:c.G1444T:p.E482X;ENSG00000154655:ENST00000535782:exon9:c.G883T:p.E295X;	0.999992189492819	0.968
18	6080880	C	G	18	6080881	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.G1444C:p.V482L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.G1444C:p.V482L;ENSG00000154655:ENST00000317931:exon16:c.G1444C:p.E482Q;ENSG00000154655:ENST00000535782:exon9:c.G883C:p.E295Q;ENSG00000154655:ENST00000400104:exon16:c.G1444C:p.G482R;ENSG00000154655:ENST00000284898:exon16:c.G1444C:p.V482L;	0.999997412186505	1.0
18	6080880	C	T	18	6080881	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.G1444A:p.V482M;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.G1444A:p.V482M;ENSG00000154655:ENST00000317931:exon16:c.G1444A:p.E482K;ENSG00000154655:ENST00000535782:exon9:c.G883A:p.E295K;ENSG00000154655:ENST00000400104:exon16:c.G1444A:p.G482S;ENSG00000154655:ENST00000284898:exon16:c.G1444A:p.V482M;	0.999996353779552	1.0
18	6080881	T	A	18	6080882	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.A1443T:p.R481S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.A1443T:p.R481S;ENSG00000154655:ENST00000317931:exon16:c.A1443T:p.R481S;ENSG00000154655:ENST00000535782:exon9:c.A882T:p.R294S;ENSG00000154655:ENST00000400104:exon16:c.A1443T:p.R481S;ENSG00000154655:ENST00000284898:exon16:c.A1443T:p.R481S;	0.999741303426985	0.98
18	6080881	T	C	18	6080882	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon16:c.A1443G:p.R481R;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.A1443G:p.R481R;ENSG00000154655:ENST00000317931:exon16:c.A1443G:p.R481R;ENSG00000154655:ENST00000535782:exon9:c.A882G:p.R294R;ENSG00000154655:ENST00000400104:exon16:c.A1443G:p.R481R;ENSG00000154655:ENST00000284898:exon16:c.A1443G:p.R481R;	0.998740046307035	0.932
18	6080881	T	G	18	6080882	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.A1443C:p.R481S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.A1443C:p.R481S;ENSG00000154655:ENST00000317931:exon16:c.A1443C:p.R481S;ENSG00000154655:ENST00000535782:exon9:c.A882C:p.R294S;ENSG00000154655:ENST00000400104:exon16:c.A1443C:p.R481S;ENSG00000154655:ENST00000284898:exon16:c.A1443C:p.R481S;	0.998331152412097	0.828
18	6080882	C	A	18	6080883	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.G1442T:p.R481I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.G1442T:p.R481I;ENSG00000154655:ENST00000317931:exon16:c.G1442T:p.R481I;ENSG00000154655:ENST00000535782:exon9:c.G881T:p.R294I;ENSG00000154655:ENST00000400104:exon16:c.G1442T:p.R481I;ENSG00000154655:ENST00000284898:exon16:c.G1442T:p.R481I;	0.400256986561059	0.384
18	6080882	C	G	18	6080883	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.G1442C:p.R481T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.G1442C:p.R481T;ENSG00000154655:ENST00000317931:exon16:c.G1442C:p.R481T;ENSG00000154655:ENST00000535782:exon9:c.G881C:p.R294T;ENSG00000154655:ENST00000400104:exon16:c.G1442C:p.R481T;ENSG00000154655:ENST00000284898:exon16:c.G1442C:p.R481T;	0.0104278573048926	0.158
18	6080882	C	T	18	6080883	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.G1442A:p.R481K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.G1442A:p.R481K;ENSG00000154655:ENST00000317931:exon16:c.G1442A:p.R481K;ENSG00000154655:ENST00000535782:exon9:c.G881A:p.R294K;ENSG00000154655:ENST00000400104:exon16:c.G1442A:p.R481K;ENSG00000154655:ENST00000284898:exon16:c.G1442A:p.R481K;	0.0578163956626637	0.25
18	6080949	G	A	18	6080950	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.C1375T:p.L459F;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.C1375T:p.L459F;ENSG00000154655:ENST00000317931:exon16:c.C1375T:p.L459F;ENSG00000154655:ENST00000535782:exon9:c.C814T:p.L272F;ENSG00000154655:ENST00000400104:exon16:c.C1375T:p.L459F;ENSG00000154655:ENST00000284898:exon16:c.C1375T:p.L459F;	0.00469694339349201	0.058
18	6080949	G	C	18	6080950	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.C1375G:p.L459V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.C1375G:p.L459V;ENSG00000154655:ENST00000317931:exon16:c.C1375G:p.L459V;ENSG00000154655:ENST00000535782:exon9:c.C814G:p.L272V;ENSG00000154655:ENST00000400104:exon16:c.C1375G:p.L459V;ENSG00000154655:ENST00000284898:exon16:c.C1375G:p.L459V;	0.00250328461630038	0.124
18	6080949	G	T	18	6080950	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.C1375A:p.L459I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.C1375A:p.L459I;ENSG00000154655:ENST00000317931:exon16:c.C1375A:p.L459I;ENSG00000154655:ENST00000535782:exon9:c.C814A:p.L272I;ENSG00000154655:ENST00000400104:exon16:c.C1375A:p.L459I;ENSG00000154655:ENST00000284898:exon16:c.C1375A:p.L459I;	0.0167350780493953	0.096
18	6080950	T	A	18	6080951	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.A1374T:p.R458S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.A1374T:p.R458S;ENSG00000154655:ENST00000317931:exon16:c.A1374T:p.R458S;ENSG00000154655:ENST00000535782:exon9:c.A813T:p.R271S;ENSG00000154655:ENST00000400104:exon16:c.A1374T:p.R458S;ENSG00000154655:ENST00000284898:exon16:c.A1374T:p.R458S;	0.0176741415804946	0.174
18	6080950	T	C	18	6080951	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon16:c.A1374G:p.R458R;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.A1374G:p.R458R;ENSG00000154655:ENST00000317931:exon16:c.A1374G:p.R458R;ENSG00000154655:ENST00000535782:exon9:c.A813G:p.R271R;ENSG00000154655:ENST00000400104:exon16:c.A1374G:p.R458R;ENSG00000154655:ENST00000284898:exon16:c.A1374G:p.R458R;	1.53318953341809E-4	0.006
18	6080950	T	G	18	6080951	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon16:c.A1374C:p.R458S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon16:c.A1374C:p.R458S;ENSG00000154655:ENST00000317931:exon16:c.A1374C:p.R458S;ENSG00000154655:ENST00000535782:exon9:c.A813C:p.R271S;ENSG00000154655:ENST00000400104:exon16:c.A1374C:p.R458S;ENSG00000154655:ENST00000284898:exon16:c.A1374C:p.R458S;	0.0106272690143498	0.232
18	6080951	C	A	18	6080952	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1374-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1374-1G>T;ENST00000400105:exon17:c.1374-1G>T;ENST00000284898:exon17:c.1374-1G>T;ENST00000535782:exon10:c.813-1G>T;ENST00000400104:exon17:c.1374-1G>T)	.	.	0.999985532734767	0.946
18	6080951	C	G	18	6080952	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1374-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1374-1G>C;ENST00000400105:exon17:c.1374-1G>C;ENST00000284898:exon17:c.1374-1G>C;ENST00000535782:exon10:c.813-1G>C;ENST00000400104:exon17:c.1374-1G>C)	.	.	0.999985532734767	0.946
18	6080951	C	T	18	6080952	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1374-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1374-1G>A;ENST00000400105:exon17:c.1374-1G>A;ENST00000284898:exon17:c.1374-1G>A;ENST00000535782:exon10:c.813-1G>A;ENST00000400104:exon17:c.1374-1G>A)	.	.	0.999985532734767	0.946
18	6080952	T	A	18	6080953	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1374-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1374-2A>T;ENST00000400105:exon17:c.1374-2A>T;ENST00000284898:exon17:c.1374-2A>T;ENST00000535782:exon10:c.813-2A>T;ENST00000400104:exon17:c.1374-2A>T)	.	.	0.999988247793601	0.948
18	6080952	T	C	18	6080953	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1374-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1374-2A>G;ENST00000400105:exon17:c.1374-2A>G;ENST00000284898:exon17:c.1374-2A>G;ENST00000535782:exon10:c.813-2A>G;ENST00000400104:exon17:c.1374-2A>G)	.	.	0.999988247793601	0.948
18	6080952	T	G	18	6080953	y	y	splicing	L3MBTL4(NM_173464:exon17:c.1374-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon17:c.1374-2A>C;ENST00000400105:exon17:c.1374-2A>C;ENST00000284898:exon17:c.1374-2A>C;ENST00000535782:exon10:c.813-2A>C;ENST00000400104:exon17:c.1374-2A>C)	.	.	0.999988247793601	0.948
18	6080953	G	A	18	6080954	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0179665436885178	0.096
18	6080953	G	C	18	6080954	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.999953157844383	0.998
18	6080953	G	T	18	6080954	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.988797036772203	0.908
18	6080954	G	A	18	6080955	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	8.64947271538263E-4	0.03
18	6080954	G	C	18	6080955	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0016858606206635	0.084
18	6080954	G	T	18	6080955	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	6.20777471492243E-4	0.044
18	6080955	G	A	18	6080956	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	3.57179867785572E-4	0.0
18	6080955	G	C	18	6080956	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00623691710575748	0.084
18	6080955	G	T	18	6080956	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00450645667733422	0.032
18	6080956	C	A	18	6080957	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	9.57338847002891E-4	0.02
18	6080956	C	G	18	6080957	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.00221468022435787	0.048
18	6080956	C	T	18	6080957	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.012044368948047	0.058
18	6080957	A	C	18	6080958	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0746984689466813	0.31
18	6080957	A	G	18	6080958	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	4.14900531165154E-4	0.14
18	6080957	A	T	18	6080958	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.999974640846804	0.97
18	6080958	A	C	18	6080959	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.022319179919586	0.224
18	6080958	A	G	18	6080959	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	9.02527494518311E-5	0.006
18	6080958	A	T	18	6080959	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0426184287583194	0.282
18	6080959	A	C	18	6080960	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.999248683225198	0.928
18	6080959	A	G	18	6080960	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.361571618968267	0.426
18	6080959	A	T	18	6080960	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.999406468268585	0.924
18	6080960	G	A	18	6080961	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.108757384066561	0.48
18	6080960	G	C	18	6080961	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.175140075633151	0.278
18	6080960	G	T	18	6080961	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.352633861920359	0.392
18	6080961	A	C	18	6080962	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.994177997797213	0.812
18	6080961	A	G	18	6080962	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.2388284783086	0.344
18	6080961	A	T	18	6080962	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.999126351452762	0.9
18	6080962	A	C	18	6080963	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.980243645410466	0.81
18	6080962	A	G	18	6080963	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.0390637200973171	0.158
18	6080962	A	T	18	6080963	y	y	intronic	L3MBTL4	.	.	ncRNA_intronic	ENSG00000266846	.	.	0.986011048763873	0.782
18	6093346	T	A	18	6093347	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.455930068921E-5	0.0
18	6093346	T	C	18	6093347	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.455930068921E-5	0.0
18	6093346	T	G	18	6093347	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.455930068921E-5	0.0
18	6093347	T	A	18	6093348	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.73271105967118E-5	0.002
18	6093347	T	C	18	6093348	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.60676020071976E-5	0.0
18	6093347	T	G	18	6093348	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.5908222467397E-5	0.0
18	6093348	T	A	18	6093349	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.75020571303761E-5	0.012
18	6093348	T	C	18	6093349	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.27649559628064E-5	0.0
18	6093348	T	G	18	6093349	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.74756640075915E-4	0.014
18	6093349	C	A	18	6093350	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.968283065333861	0.604
18	6093349	C	G	18	6093350	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.953311981651385	0.65
18	6093349	C	T	18	6093350	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.970351814456758	0.652
18	6093350	T	A	18	6093351	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.536828265804629	0.542
18	6093350	T	C	18	6093351	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.922526433787225	0.51
18	6093350	T	G	18	6093351	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.756873218459465	0.598
18	6093351	T	A	18	6093352	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.972322837883469	0.794
18	6093351	T	C	18	6093352	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.150450148738899	0.268
18	6093351	T	G	18	6093352	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.944360653029585	0.75
18	6093352	A	C	18	6093353	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1373+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1373+2T>G;ENST00000400105:exon16:c.1373+2T>G;ENST00000284898:exon16:c.1373+2T>G;ENST00000535782:exon9:c.812+2T>G;ENST00000400104:exon16:c.1373+2T>G)	.	.	0.999988247793601	0.928
18	6093352	A	G	18	6093353	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1373+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1373+2T>C;ENST00000400105:exon16:c.1373+2T>C;ENST00000284898:exon16:c.1373+2T>C;ENST00000535782:exon9:c.812+2T>C;ENST00000400104:exon16:c.1373+2T>C)	.	.	0.98918007292081	0.644
18	6093352	A	T	18	6093353	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1373+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1373+2T>A;ENST00000400105:exon16:c.1373+2T>A;ENST00000284898:exon16:c.1373+2T>A;ENST00000535782:exon9:c.812+2T>A;ENST00000400104:exon16:c.1373+2T>A)	.	.	0.999988247793601	0.918
18	6093353	C	A	18	6093354	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1373+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1373+1G>T;ENST00000400105:exon16:c.1373+1G>T;ENST00000284898:exon16:c.1373+1G>T;ENST00000535782:exon9:c.812+1G>T;ENST00000400104:exon16:c.1373+1G>T)	.	.	0.999985532734767	0.938
18	6093353	C	G	18	6093354	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1373+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1373+1G>C;ENST00000400105:exon16:c.1373+1G>C;ENST00000284898:exon16:c.1373+1G>C;ENST00000535782:exon9:c.812+1G>C;ENST00000400104:exon16:c.1373+1G>C)	.	.	0.999985532734767	0.938
18	6093353	C	T	18	6093354	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1373+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1373+1G>A;ENST00000400105:exon16:c.1373+1G>A;ENST00000284898:exon16:c.1373+1G>A;ENST00000535782:exon9:c.812+1G>A;ENST00000400104:exon16:c.1373+1G>A)	.	.	0.999985532734767	0.936
18	6093354	C	A	18	6093355	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.G1373T:p.R458I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.G1373T:p.R458I;ENSG00000154655:ENST00000317931:exon15:c.G1373T:p.R458I;ENSG00000154655:ENST00000535782:exon8:c.G812T:p.R271I;ENSG00000154655:ENST00000400104:exon15:c.G1373T:p.R458I;ENSG00000154655:ENST00000284898:exon15:c.G1373T:p.R458I;	0.984574231013295	0.764
18	6093354	C	G	18	6093355	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.G1373C:p.R458T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.G1373C:p.R458T;ENSG00000154655:ENST00000317931:exon15:c.G1373C:p.R458T;ENSG00000154655:ENST00000535782:exon8:c.G812C:p.R271T;ENSG00000154655:ENST00000400104:exon15:c.G1373C:p.R458T;ENSG00000154655:ENST00000284898:exon15:c.G1373C:p.R458T;	0.985746218926178	0.72
18	6093354	C	T	18	6093355	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.G1373A:p.R458K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.G1373A:p.R458K;ENSG00000154655:ENST00000317931:exon15:c.G1373A:p.R458K;ENSG00000154655:ENST00000535782:exon8:c.G812A:p.R271K;ENSG00000154655:ENST00000400104:exon15:c.G1373A:p.R458K;ENSG00000154655:ENST00000284898:exon15:c.G1373A:p.R458K;	0.899506798994481	0.632
18	6093355	T	A	18	6093356	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon15:c.A1372T:p.R458X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon15:c.A1372T:p.R458X;ENSG00000154655:ENST00000317931:exon15:c.A1372T:p.R458X;ENSG00000154655:ENST00000535782:exon8:c.A811T:p.R271X;ENSG00000154655:ENST00000400104:exon15:c.A1372T:p.R458X;ENSG00000154655:ENST00000284898:exon15:c.A1372T:p.R458X;	0.813500765216342	0.49
18	6093355	T	C	18	6093356	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.A1372G:p.R458G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.A1372G:p.R458G;ENSG00000154655:ENST00000317931:exon15:c.A1372G:p.R458G;ENSG00000154655:ENST00000535782:exon8:c.A811G:p.R271G;ENSG00000154655:ENST00000400104:exon15:c.A1372G:p.R458G;ENSG00000154655:ENST00000284898:exon15:c.A1372G:p.R458G;	0.630360819899381	0.584
18	6093355	T	G	18	6093356	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon15:c.A1372C:p.R458R;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.A1372C:p.R458R;ENSG00000154655:ENST00000317931:exon15:c.A1372C:p.R458R;ENSG00000154655:ENST00000535782:exon8:c.A811C:p.R271R;ENSG00000154655:ENST00000400104:exon15:c.A1372C:p.R458R;ENSG00000154655:ENST00000284898:exon15:c.A1372C:p.R458R;	0.141820771362965	0.426
18	6093356	G	A	18	6093357	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon15:c.C1371T:p.P457P;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.C1371T:p.P457P;ENSG00000154655:ENST00000317931:exon15:c.C1371T:p.P457P;ENSG00000154655:ENST00000535782:exon8:c.C810T:p.P270P;ENSG00000154655:ENST00000400104:exon15:c.C1371T:p.P457P;ENSG00000154655:ENST00000284898:exon15:c.C1371T:p.P457P;	0.0017985387797716	0.106
18	6093356	G	C	18	6093357	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon15:c.C1371G:p.P457P;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.C1371G:p.P457P;ENSG00000154655:ENST00000317931:exon15:c.C1371G:p.P457P;ENSG00000154655:ENST00000535782:exon8:c.C810G:p.P270P;ENSG00000154655:ENST00000400104:exon15:c.C1371G:p.P457P;ENSG00000154655:ENST00000284898:exon15:c.C1371G:p.P457P;	1.01169764832138E-4	0.06
18	6093356	G	T	18	6093357	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon15:c.C1371A:p.P457P;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.C1371A:p.P457P;ENSG00000154655:ENST00000317931:exon15:c.C1371A:p.P457P;ENSG00000154655:ENST00000535782:exon8:c.C810A:p.P270P;ENSG00000154655:ENST00000400104:exon15:c.C1371A:p.P457P;ENSG00000154655:ENST00000284898:exon15:c.C1371A:p.P457P;	1.6295156671716E-4	0.102
18	6093526	C	A	18	6093527	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.G1201T:p.A401S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.G1201T:p.A401S;ENSG00000154655:ENST00000317931:exon15:c.G1201T:p.A401S;ENSG00000154655:ENST00000535782:exon8:c.G640T:p.A214S;ENSG00000154655:ENST00000400104:exon15:c.G1201T:p.A401S;ENSG00000154655:ENST00000284898:exon15:c.G1201T:p.A401S;	0.982486754496015	0.846
18	6093526	C	G	18	6093527	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.G1201C:p.A401P;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.G1201C:p.A401P;ENSG00000154655:ENST00000317931:exon15:c.G1201C:p.A401P;ENSG00000154655:ENST00000535782:exon8:c.G640C:p.A214P;ENSG00000154655:ENST00000400104:exon15:c.G1201C:p.A401P;ENSG00000154655:ENST00000284898:exon15:c.G1201C:p.A401P;	0.978686501030745	0.704
18	6093526	C	T	18	6093527	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.G1201A:p.A401T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.G1201A:p.A401T;ENSG00000154655:ENST00000317931:exon15:c.G1201A:p.A401T;ENSG00000154655:ENST00000535782:exon8:c.G640A:p.A214T;ENSG00000154655:ENST00000400104:exon15:c.G1201A:p.A401T;ENSG00000154655:ENST00000284898:exon15:c.G1201A:p.A401T;	0.978714040333937	0.628
18	6093527	A	C	18	6093528	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.T1200G:p.S400R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.T1200G:p.S400R;ENSG00000154655:ENST00000317931:exon15:c.T1200G:p.S400R;ENSG00000154655:ENST00000535782:exon8:c.T639G:p.S213R;ENSG00000154655:ENST00000400104:exon15:c.T1200G:p.S400R;ENSG00000154655:ENST00000284898:exon15:c.T1200G:p.S400R;	9.0203794874983E-4	0.408
18	6093527	A	G	18	6093528	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon15:c.T1200C:p.S400S;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.T1200C:p.S400S;ENSG00000154655:ENST00000317931:exon15:c.T1200C:p.S400S;ENSG00000154655:ENST00000535782:exon8:c.T639C:p.S213S;ENSG00000154655:ENST00000400104:exon15:c.T1200C:p.S400S;ENSG00000154655:ENST00000284898:exon15:c.T1200C:p.S400S;	1.43727811843246E-4	0.036
18	6093527	A	T	18	6093528	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon15:c.T1200A:p.S400R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon15:c.T1200A:p.S400R;ENSG00000154655:ENST00000317931:exon15:c.T1200A:p.S400R;ENSG00000154655:ENST00000535782:exon8:c.T639A:p.S213R;ENSG00000154655:ENST00000400104:exon15:c.T1200A:p.S400R;ENSG00000154655:ENST00000284898:exon15:c.T1200A:p.S400R;	8.55147234689334E-5	0.382
18	6093528	C	A	18	6093529	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1200-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1200-1G>T;ENST00000400105:exon16:c.1200-1G>T;ENST00000284898:exon16:c.1200-1G>T;ENST00000535782:exon9:c.639-1G>T;ENST00000400104:exon16:c.1200-1G>T)	.	.	0.999978187515213	0.87
18	6093528	C	G	18	6093529	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1200-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1200-1G>C;ENST00000400105:exon16:c.1200-1G>C;ENST00000284898:exon16:c.1200-1G>C;ENST00000535782:exon9:c.639-1G>C;ENST00000400104:exon16:c.1200-1G>C)	.	.	0.999978187515213	0.87
18	6093528	C	T	18	6093529	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1200-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1200-1G>A;ENST00000400105:exon16:c.1200-1G>A;ENST00000284898:exon16:c.1200-1G>A;ENST00000535782:exon9:c.639-1G>A;ENST00000400104:exon16:c.1200-1G>A)	.	.	0.999978187515213	0.868
18	6093529	T	A	18	6093530	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1200-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1200-2A>T;ENST00000400105:exon16:c.1200-2A>T;ENST00000284898:exon16:c.1200-2A>T;ENST00000535782:exon9:c.639-2A>T;ENST00000400104:exon16:c.1200-2A>T)	.	.	0.999933834912627	0.872
18	6093529	T	C	18	6093530	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1200-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1200-2A>G;ENST00000400105:exon16:c.1200-2A>G;ENST00000284898:exon16:c.1200-2A>G;ENST00000535782:exon9:c.639-2A>G;ENST00000400104:exon16:c.1200-2A>G)	.	.	0.999933834912627	0.874
18	6093529	T	G	18	6093530	y	y	splicing	L3MBTL4(NM_173464:exon16:c.1200-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon16:c.1200-2A>C;ENST00000400105:exon16:c.1200-2A>C;ENST00000284898:exon16:c.1200-2A>C;ENST00000535782:exon9:c.639-2A>C;ENST00000400104:exon16:c.1200-2A>C)	.	.	0.999933834912627	0.874
18	6093530	G	A	18	6093531	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00235149358965553	0.188
18	6093530	G	C	18	6093531	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999839697592584	0.854
18	6093530	G	T	18	6093531	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.997327915476185	0.806
18	6093531	G	A	18	6093532	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.12777213271705E-5	0.054
18	6093531	G	C	18	6093532	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.99626964093136	0.93
18	6093531	G	T	18	6093532	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.78610523089875E-5	0.172
18	6093532	T	A	18	6093533	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.21089526956298E-4	0.09
18	6093532	T	C	18	6093533	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999587135242604	0.958
18	6093532	T	G	18	6093533	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.18697337004491E-4	0.048
18	6093533	T	A	18	6093534	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0372900539741954	0.356
18	6093533	T	C	18	6093534	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999766833050646	0.918
18	6093533	T	G	18	6093534	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0181039316516446	0.25
18	6093534	T	A	18	6093535	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.19679910138732E-4	0.08
18	6093534	T	C	18	6093535	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00442286655712794	0.086
18	6093534	T	G	18	6093535	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.42861637403153E-4	0.062
18	6093535	G	A	18	6093536	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00230102449932776	0.092
18	6093535	G	C	18	6093536	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999379284048281	0.898
18	6093535	G	T	18	6093536	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.173022739484432	0.422
18	6093536	T	A	18	6093537	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.723048785327477	0.672
18	6093536	T	C	18	6093537	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.90573764717074	0.778
18	6093536	T	G	18	6093537	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.723048785327477	0.726
18	6093537	A	C	18	6093538	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999609602845376	0.912
18	6093537	A	G	18	6093538	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0176294099174111	0.336
18	6093537	A	T	18	6093538	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.948714349273121	0.708
18	6093538	T	A	18	6093539	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0501118772216779	0.5
18	6093538	T	C	18	6093539	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0543480791445138	0.306
18	6093538	T	G	18	6093539	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0300828019820636	0.48
18	6093539	A	C	18	6093540	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.337041281313236	0.632
18	6093539	A	G	18	6093540	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00702044702228027	0.216
18	6093539	A	T	18	6093540	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.879364654845579	0.706
18	6138185	A	C	18	6138186	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.83189763623787E-4	0.006
18	6138185	A	G	18	6138186	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.39806088270916E-4	0.014
18	6138185	A	T	18	6138186	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.99954409412881E-4	0.006
18	6138186	A	C	18	6138187	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.02577115680485E-4	0.002
18	6138186	A	G	18	6138187	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.02577115680485E-4	0.0
18	6138186	A	T	18	6138187	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.97978205410496E-4	0.0
18	6138187	T	A	18	6138188	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.31440325073238E-5	0.01
18	6138187	T	C	18	6138188	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.0407810877443E-5	0.002
18	6138187	T	G	18	6138188	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.28950998972422E-4	0.024
18	6138188	G	A	18	6138189	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.58801044135525E-4	0.0
18	6138188	G	C	18	6138189	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.94897384850479E-4	0.01
18	6138188	G	T	18	6138189	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.6527515449869E-4	0.006
18	6138189	T	A	18	6138190	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.642049054151795	0.492
18	6138189	T	C	18	6138190	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.324780971758424	0.528
18	6138189	T	G	18	6138190	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.154536040962862	0.374
18	6138190	T	A	18	6138191	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999935089014781	0.954
18	6138190	T	C	18	6138191	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.996229561805892	0.84
18	6138190	T	G	18	6138191	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999845356135061	0.986
18	6138191	A	C	18	6138192	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1199+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1199+2T>G;ENST00000400105:exon15:c.1199+2T>G;ENST00000284898:exon15:c.1199+2T>G;ENST00000535782:exon8:c.638+2T>G;ENST00000400104:exon15:c.1199+2T>G)	.	.	0.999990585896813	0.924
18	6138191	A	G	18	6138192	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1199+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1199+2T>C;ENST00000400105:exon15:c.1199+2T>C;ENST00000284898:exon15:c.1199+2T>C;ENST00000535782:exon8:c.638+2T>C;ENST00000400104:exon15:c.1199+2T>C)	.	.	0.99608642129536	0.624
18	6138191	A	T	18	6138192	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1199+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1199+2T>A;ENST00000400105:exon15:c.1199+2T>A;ENST00000284898:exon15:c.1199+2T>A;ENST00000535782:exon8:c.638+2T>A;ENST00000400104:exon15:c.1199+2T>A)	.	.	0.999989908889288	0.924
18	6138192	C	A	18	6138193	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1199+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1199+1G>T;ENST00000400105:exon15:c.1199+1G>T;ENST00000284898:exon15:c.1199+1G>T;ENST00000535782:exon8:c.638+1G>T;ENST00000400104:exon15:c.1199+1G>T)	.	.	0.999967335026411	0.932
18	6138192	C	G	18	6138193	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1199+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1199+1G>C;ENST00000400105:exon15:c.1199+1G>C;ENST00000284898:exon15:c.1199+1G>C;ENST00000535782:exon8:c.638+1G>C;ENST00000400104:exon15:c.1199+1G>C)	.	.	0.999967335026411	0.936
18	6138192	C	T	18	6138193	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1199+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1199+1G>A;ENST00000400105:exon15:c.1199+1G>A;ENST00000284898:exon15:c.1199+1G>A;ENST00000535782:exon8:c.638+1G>A;ENST00000400104:exon15:c.1199+1G>A)	.	.	0.999981760802075	0.936
18	6138193	C	A	18	6138194	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.G1199T:p.S400I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.G1199T:p.S400I;ENSG00000154655:ENST00000317931:exon14:c.G1199T:p.S400I;ENSG00000154655:ENST00000535782:exon7:c.G638T:p.S213I;ENSG00000154655:ENST00000400104:exon14:c.G1199T:p.S400I;ENSG00000154655:ENST00000284898:exon14:c.G1199T:p.S400I;	0.999980817335363	0.998
18	6138193	C	G	18	6138194	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.G1199C:p.S400T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.G1199C:p.S400T;ENSG00000154655:ENST00000317931:exon14:c.G1199C:p.S400T;ENSG00000154655:ENST00000535782:exon7:c.G638C:p.S213T;ENSG00000154655:ENST00000400104:exon14:c.G1199C:p.S400T;ENSG00000154655:ENST00000284898:exon14:c.G1199C:p.S400T;	0.999911527442355	1.0
18	6138193	C	T	18	6138194	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.G1199A:p.S400N;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.G1199A:p.S400N;ENSG00000154655:ENST00000317931:exon14:c.G1199A:p.S400N;ENSG00000154655:ENST00000535782:exon7:c.G638A:p.S213N;ENSG00000154655:ENST00000400104:exon14:c.G1199A:p.S400N;ENSG00000154655:ENST00000284898:exon14:c.G1199A:p.S400N;	0.999991755221621	1.0
18	6138194	T	A	18	6138195	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.A1198T:p.S400C;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.A1198T:p.S400C;ENSG00000154655:ENST00000317931:exon14:c.A1198T:p.S400C;ENSG00000154655:ENST00000535782:exon7:c.A637T:p.S213C;ENSG00000154655:ENST00000400104:exon14:c.A1198T:p.S400C;ENSG00000154655:ENST00000284898:exon14:c.A1198T:p.S400C;	0.998806772093593	0.986
18	6138194	T	C	18	6138195	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.A1198G:p.S400G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.A1198G:p.S400G;ENSG00000154655:ENST00000317931:exon14:c.A1198G:p.S400G;ENSG00000154655:ENST00000535782:exon7:c.A637G:p.S213G;ENSG00000154655:ENST00000400104:exon14:c.A1198G:p.S400G;ENSG00000154655:ENST00000284898:exon14:c.A1198G:p.S400G;	0.999386270998152	0.97
18	6138194	T	G	18	6138195	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.A1198C:p.S400R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.A1198C:p.S400R;ENSG00000154655:ENST00000317931:exon14:c.A1198C:p.S400R;ENSG00000154655:ENST00000535782:exon7:c.A637C:p.S213R;ENSG00000154655:ENST00000400104:exon14:c.A1198C:p.S400R;ENSG00000154655:ENST00000284898:exon14:c.A1198C:p.S400R;	0.998199205913513	0.924
18	6138195	G	A	18	6138196	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon14:c.C1197T:p.H399H;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.C1197T:p.H399H;ENSG00000154655:ENST00000317931:exon14:c.C1197T:p.H399H;ENSG00000154655:ENST00000535782:exon7:c.C636T:p.H212H;ENSG00000154655:ENST00000400104:exon14:c.C1197T:p.H399H;ENSG00000154655:ENST00000284898:exon14:c.C1197T:p.H399H;	0.925097914413217	0.618
18	6138195	G	C	18	6138196	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.C1197G:p.H399Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.C1197G:p.H399Q;ENSG00000154655:ENST00000317931:exon14:c.C1197G:p.H399Q;ENSG00000154655:ENST00000535782:exon7:c.C636G:p.H212Q;ENSG00000154655:ENST00000400104:exon14:c.C1197G:p.H399Q;ENSG00000154655:ENST00000284898:exon14:c.C1197G:p.H399Q;	0.504184334951236	0.45
18	6138195	G	T	18	6138196	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.C1197A:p.H399Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.C1197A:p.H399Q;ENSG00000154655:ENST00000317931:exon14:c.C1197A:p.H399Q;ENSG00000154655:ENST00000535782:exon7:c.C636A:p.H212Q;ENSG00000154655:ENST00000400104:exon14:c.C1197A:p.H399Q;ENSG00000154655:ENST00000284898:exon14:c.C1197A:p.H399Q;	0.700039874597219	0.492
18	6138294	T	A	18	6138295	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon14:c.A1098T:p.R366R;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.A1098T:p.R366R;ENSG00000154655:ENST00000317931:exon14:c.A1098T:p.R366R;ENSG00000154655:ENST00000535782:exon7:c.A537T:p.R179R;ENSG00000154655:ENST00000400104:exon14:c.A1098T:p.R366R;ENSG00000154655:ENST00000284898:exon14:c.A1098T:p.R366R;	1.49484233165932E-4	0.004
18	6138294	T	C	18	6138295	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon14:c.A1098G:p.R366R;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.A1098G:p.R366R;ENSG00000154655:ENST00000317931:exon14:c.A1098G:p.R366R;ENSG00000154655:ENST00000535782:exon7:c.A537G:p.R179R;ENSG00000154655:ENST00000400104:exon14:c.A1098G:p.R366R;ENSG00000154655:ENST00000284898:exon14:c.A1098G:p.R366R;	3.7241468717137E-4	0.044
18	6138294	T	G	18	6138295	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon14:c.A1098C:p.R366R;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.A1098C:p.R366R;ENSG00000154655:ENST00000317931:exon14:c.A1098C:p.R366R;ENSG00000154655:ENST00000535782:exon7:c.A537C:p.R179R;ENSG00000154655:ENST00000400104:exon14:c.A1098C:p.R366R;ENSG00000154655:ENST00000284898:exon14:c.A1098C:p.R366R;	4.08320937486559E-4	0.064
18	6138295	C	A	18	6138296	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.G1097T:p.R366L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.G1097T:p.R366L;ENSG00000154655:ENST00000317931:exon14:c.G1097T:p.R366L;ENSG00000154655:ENST00000535782:exon7:c.G536T:p.R179L;ENSG00000154655:ENST00000400104:exon14:c.G1097T:p.R366L;ENSG00000154655:ENST00000284898:exon14:c.G1097T:p.R366L;	0.960139544747152	0.758
18	6138295	C	G	18	6138296	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.G1097C:p.R366P;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.G1097C:p.R366P;ENSG00000154655:ENST00000317931:exon14:c.G1097C:p.R366P;ENSG00000154655:ENST00000535782:exon7:c.G536C:p.R179P;ENSG00000154655:ENST00000400104:exon14:c.G1097C:p.R366P;ENSG00000154655:ENST00000284898:exon14:c.G1097C:p.R366P;	0.620349253100186	0.778
18	6138295	C	T	18	6138296	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon14:c.G1097A:p.R366Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon14:c.G1097A:p.R366Q;ENSG00000154655:ENST00000317931:exon14:c.G1097A:p.R366Q;ENSG00000154655:ENST00000535782:exon7:c.G536A:p.R179Q;ENSG00000154655:ENST00000400104:exon14:c.G1097A:p.R366Q;ENSG00000154655:ENST00000284898:exon14:c.G1097A:p.R366Q;	0.268723364627324	0.442
18	6138296	C	A	18	6138297	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1097-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1097-1G>T;ENST00000400105:exon15:c.1097-1G>T;ENST00000284898:exon15:c.1097-1G>T;ENST00000535782:exon8:c.536-1G>T;ENST00000400104:exon15:c.1097-1G>T)	.	.	0.999973155962011	0.93
18	6138296	C	G	18	6138297	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1097-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1097-1G>C;ENST00000400105:exon15:c.1097-1G>C;ENST00000284898:exon15:c.1097-1G>C;ENST00000535782:exon8:c.536-1G>C;ENST00000400104:exon15:c.1097-1G>C)	.	.	0.999973155962011	0.93
18	6138296	C	T	18	6138297	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1097-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1097-1G>A;ENST00000400105:exon15:c.1097-1G>A;ENST00000284898:exon15:c.1097-1G>A;ENST00000535782:exon8:c.536-1G>A;ENST00000400104:exon15:c.1097-1G>A)	.	.	0.999973155962011	0.93
18	6138297	T	A	18	6138298	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1097-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1097-2A>T;ENST00000400105:exon15:c.1097-2A>T;ENST00000284898:exon15:c.1097-2A>T;ENST00000535782:exon8:c.536-2A>T;ENST00000400104:exon15:c.1097-2A>T)	.	.	0.999991823630654	0.944
18	6138297	T	C	18	6138298	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1097-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1097-2A>G;ENST00000400105:exon15:c.1097-2A>G;ENST00000284898:exon15:c.1097-2A>G;ENST00000535782:exon8:c.536-2A>G;ENST00000400104:exon15:c.1097-2A>G)	.	.	0.999991823630654	0.944
18	6138297	T	G	18	6138298	y	y	splicing	L3MBTL4(NM_173464:exon15:c.1097-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon15:c.1097-2A>C;ENST00000400105:exon15:c.1097-2A>C;ENST00000284898:exon15:c.1097-2A>C;ENST00000535782:exon8:c.536-2A>C;ENST00000400104:exon15:c.1097-2A>C)	.	.	0.999991823630654	0.944
18	6138298	T	A	18	6138299	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.00477559113688E-4	0.03
18	6138298	T	C	18	6138299	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.904199972826071	0.52
18	6138298	T	G	18	6138299	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.59320693688447E-4	0.064
18	6138299	C	A	18	6138300	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00659129557598095	0.05
18	6138299	C	G	18	6138300	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00370351450936022	0.032
18	6138299	C	T	18	6138300	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00659129557598095	0.04
18	6138300	A	C	18	6138301	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.915358250377388	0.638
18	6138300	A	G	18	6138301	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.063372916831426	0.212
18	6138300	A	T	18	6138301	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.99966999193551	0.952
18	6138301	G	A	18	6138302	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.80972800497736E-4	0.008
18	6138301	G	C	18	6138302	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0659947728771364	0.268
18	6138301	G	T	18	6138302	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0202109762689137	0.278
18	6138302	G	A	18	6138303	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00164692270319203	0.052
18	6138302	G	C	18	6138303	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.3688403272733	0.282
18	6138302	G	T	18	6138303	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.136509673871122	0.26
18	6138303	A	C	18	6138304	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0745752402917357	0.24
18	6138303	A	G	18	6138304	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0106092916789206	0.134
18	6138303	A	T	18	6138304	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0425804313940124	0.234
18	6138304	A	C	18	6138305	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.176105116542098	0.248
18	6138304	A	G	18	6138305	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00350945543237071	0.064
18	6138304	A	T	18	6138305	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.266078484809032	0.266
18	6138305	G	A	18	6138306	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0219898541195026	0.256
18	6138305	G	C	18	6138306	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999953772549064	0.952
18	6138305	G	T	18	6138306	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.125074674464627	0.202
18	6138306	T	A	18	6138307	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0591686763864184	0.348
18	6138306	T	C	18	6138307	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0338235757646254	0.21
18	6138306	T	G	18	6138307	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0645393523417079	0.302
18	6138307	A	C	18	6138308	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.730042836032963	0.492
18	6138307	A	G	18	6138308	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.201477132930972	0.332
18	6138307	A	T	18	6138308	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.789975518856466	0.528
18	6171819	G	A	18	6171820	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.09421806349221E-6	0.0
18	6171819	G	C	18	6171820	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.22170646720173E-5	0.054
18	6171819	G	T	18	6171820	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.89940005176049E-5	0.0
18	6171820	T	A	18	6171821	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.94230646384431E-5	0.0
18	6171820	T	C	18	6171821	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.13553750130627E-5	0.0
18	6171820	T	G	18	6171821	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.42459067572575E-5	0.0
18	6171821	A	C	18	6171822	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.976215992747532	0.702
18	6171821	A	G	18	6171822	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.968596587878866	0.772
18	6171821	A	T	18	6171822	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.98643888395258	0.68
18	6171822	C	A	18	6171823	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999962485882708	0.914
18	6171822	C	G	18	6171823	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999973086979913	0.92
18	6171822	C	T	18	6171823	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999928772900492	0.906
18	6171823	T	A	18	6171824	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.99967001544022	0.83
18	6171823	T	C	18	6171824	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.99970554646049	0.862
18	6171823	T	G	18	6171824	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.979693747339393	0.69
18	6171824	C	A	18	6171825	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.968497625547111	0.418
18	6171824	C	G	18	6171825	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.846241999474095	0.49
18	6171824	C	T	18	6171825	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.58262796957087E-5	0.0
18	6171825	A	C	18	6171826	y	y	splicing	L3MBTL4(NM_173464:exon14:c.1096+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.1096+2T>G;ENST00000400105:exon14:c.1096+2T>G;ENST00000284898:exon14:c.1096+2T>G;ENST00000535782:exon7:c.535+2T>G;ENST00000400104:exon14:c.1096+2T>G)	.	.	0.999929575678921	0.77
18	6171825	A	G	18	6171826	y	y	splicing	L3MBTL4(NM_173464:exon14:c.1096+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.1096+2T>C;ENST00000400105:exon14:c.1096+2T>C;ENST00000284898:exon14:c.1096+2T>C;ENST00000535782:exon7:c.535+2T>C;ENST00000400104:exon14:c.1096+2T>C)	.	.	0.9994314701854	0.736
18	6171825	A	T	18	6171826	y	y	splicing	L3MBTL4(NM_173464:exon14:c.1096+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.1096+2T>A;ENST00000400105:exon14:c.1096+2T>A;ENST00000284898:exon14:c.1096+2T>A;ENST00000535782:exon7:c.535+2T>A;ENST00000400104:exon14:c.1096+2T>A)	.	.	0.999931658812138	0.756
18	6171826	C	A	18	6171827	y	y	splicing	L3MBTL4(NM_173464:exon14:c.1096+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.1096+1G>T;ENST00000400105:exon14:c.1096+1G>T;ENST00000284898:exon14:c.1096+1G>T;ENST00000535782:exon7:c.535+1G>T;ENST00000400104:exon14:c.1096+1G>T)	.	.	0.999962153268756	0.732
18	6171826	C	G	18	6171827	y	y	splicing	L3MBTL4(NM_173464:exon14:c.1096+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.1096+1G>C;ENST00000400105:exon14:c.1096+1G>C;ENST00000284898:exon14:c.1096+1G>C;ENST00000535782:exon7:c.535+1G>C;ENST00000400104:exon14:c.1096+1G>C)	.	.	0.999962153268756	0.738
18	6171826	C	T	18	6171827	y	y	splicing	L3MBTL4(NM_173464:exon14:c.1096+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.1096+1G>A;ENST00000400105:exon14:c.1096+1G>A;ENST00000284898:exon14:c.1096+1G>A;ENST00000535782:exon7:c.535+1G>A;ENST00000400104:exon14:c.1096+1G>A)	.	.	0.999962153268756	0.748
18	6171827	G	A	18	6171828	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon13:c.C1096T:p.R366X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon13:c.C1096T:p.R366X;ENSG00000154655:ENST00000317931:exon13:c.C1096T:p.R366X;ENSG00000154655:ENST00000535782:exon6:c.C535T:p.R179X;ENSG00000154655:ENST00000400104:exon13:c.C1096T:p.R366X;ENSG00000154655:ENST00000284898:exon13:c.C1096T:p.R366X;	2.42369750679125E-4	0.222
18	6171827	G	C	18	6171828	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.C1096G:p.R366G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.C1096G:p.R366G;ENSG00000154655:ENST00000317931:exon13:c.C1096G:p.R366G;ENSG00000154655:ENST00000535782:exon6:c.C535G:p.R179G;ENSG00000154655:ENST00000400104:exon13:c.C1096G:p.R366G;ENSG00000154655:ENST00000284898:exon13:c.C1096G:p.R366G;	7.66143159117892E-5	0.246
18	6171827	G	T	18	6171828	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon13:c.C1096A:p.R366R;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.C1096A:p.R366R;ENSG00000154655:ENST00000317931:exon13:c.C1096A:p.R366R;ENSG00000154655:ENST00000535782:exon6:c.C535A:p.R179R;ENSG00000154655:ENST00000400104:exon13:c.C1096A:p.R366R;ENSG00000154655:ENST00000284898:exon13:c.C1096A:p.R366R;	1.36319619322651E-5	0.046
18	6171828	C	A	18	6171829	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.G1095T:p.Q365H;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.G1095T:p.Q365H;ENSG00000154655:ENST00000317931:exon13:c.G1095T:p.Q365H;ENSG00000154655:ENST00000535782:exon6:c.G534T:p.Q178H;ENSG00000154655:ENST00000400104:exon13:c.G1095T:p.Q365H;ENSG00000154655:ENST00000284898:exon13:c.G1095T:p.Q365H;	1.41245526518641E-4	0.098
18	6171828	C	G	18	6171829	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.G1095C:p.Q365H;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.G1095C:p.Q365H;ENSG00000154655:ENST00000317931:exon13:c.G1095C:p.Q365H;ENSG00000154655:ENST00000535782:exon6:c.G534C:p.Q178H;ENSG00000154655:ENST00000400104:exon13:c.G1095C:p.Q365H;ENSG00000154655:ENST00000284898:exon13:c.G1095C:p.Q365H;	1.10732468620633E-4	0.016
18	6171828	C	T	18	6171829	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon13:c.G1095A:p.Q365Q;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.G1095A:p.Q365Q;ENSG00000154655:ENST00000317931:exon13:c.G1095A:p.Q365Q;ENSG00000154655:ENST00000535782:exon6:c.G534A:p.Q178Q;ENSG00000154655:ENST00000400104:exon13:c.G1095A:p.Q365Q;ENSG00000154655:ENST00000284898:exon13:c.G1095A:p.Q365Q;	7.12574781043162E-5	0.002
18	6171829	T	A	18	6171830	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.A1094T:p.Q365L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.A1094T:p.Q365L;ENSG00000154655:ENST00000317931:exon13:c.A1094T:p.Q365L;ENSG00000154655:ENST00000535782:exon6:c.A533T:p.Q178L;ENSG00000154655:ENST00000400104:exon13:c.A1094T:p.Q365L;ENSG00000154655:ENST00000284898:exon13:c.A1094T:p.Q365L;	3.13823462002461E-4	0.11
18	6171829	T	C	18	6171830	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.A1094G:p.Q365R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.A1094G:p.Q365R;ENSG00000154655:ENST00000317931:exon13:c.A1094G:p.Q365R;ENSG00000154655:ENST00000535782:exon6:c.A533G:p.Q178R;ENSG00000154655:ENST00000400104:exon13:c.A1094G:p.Q365R;ENSG00000154655:ENST00000284898:exon13:c.A1094G:p.Q365R;	1.63791626664634E-4	0.0
18	6171829	T	G	18	6171830	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.A1094C:p.Q365P;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.A1094C:p.Q365P;ENSG00000154655:ENST00000317931:exon13:c.A1094C:p.Q365P;ENSG00000154655:ENST00000535782:exon6:c.A533C:p.Q178P;ENSG00000154655:ENST00000400104:exon13:c.A1094C:p.Q365P;ENSG00000154655:ENST00000284898:exon13:c.A1094C:p.Q365P;	3.16184370133108E-5	0.0
18	6171940	A	C	18	6171941	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.T983G:p.V328G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.T983G:p.V328G;ENSG00000154655:ENST00000317931:exon13:c.T983G:p.V328G;ENSG00000154655:ENST00000535782:exon6:c.T422G:p.V141G;ENSG00000154655:ENST00000400104:exon13:c.T983G:p.V328G;ENSG00000154655:ENST00000284898:exon13:c.T983G:p.V328G;	0.645746488605371	0.404
18	6171940	A	G	18	6171941	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.T983C:p.V328A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.T983C:p.V328A;ENSG00000154655:ENST00000317931:exon13:c.T983C:p.V328A;ENSG00000154655:ENST00000535782:exon6:c.T422C:p.V141A;ENSG00000154655:ENST00000400104:exon13:c.T983C:p.V328A;ENSG00000154655:ENST00000284898:exon13:c.T983C:p.V328A;	0.562530282751213	0.422
18	6171940	A	T	18	6171941	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.T983A:p.V328D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.T983A:p.V328D;ENSG00000154655:ENST00000317931:exon13:c.T983A:p.V328D;ENSG00000154655:ENST00000535782:exon6:c.T422A:p.V141D;ENSG00000154655:ENST00000400104:exon13:c.T983A:p.V328D;ENSG00000154655:ENST00000284898:exon13:c.T983A:p.V328D;	0.627772899911063	0.476
18	6171941	C	A	18	6171942	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.G982T:p.V328F;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.G982T:p.V328F;ENSG00000154655:ENST00000317931:exon13:c.G982T:p.V328F;ENSG00000154655:ENST00000535782:exon6:c.G421T:p.V141F;ENSG00000154655:ENST00000400104:exon13:c.G982T:p.V328F;ENSG00000154655:ENST00000284898:exon13:c.G982T:p.V328F;	0.988775260191105	0.728
18	6171941	C	G	18	6171942	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.G982C:p.V328L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.G982C:p.V328L;ENSG00000154655:ENST00000317931:exon13:c.G982C:p.V328L;ENSG00000154655:ENST00000535782:exon6:c.G421C:p.V141L;ENSG00000154655:ENST00000400104:exon13:c.G982C:p.V328L;ENSG00000154655:ENST00000284898:exon13:c.G982C:p.V328L;	0.0369928430446812	0.424
18	6171941	C	T	18	6171942	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon13:c.G982A:p.V328I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon13:c.G982A:p.V328I;ENSG00000154655:ENST00000317931:exon13:c.G982A:p.V328I;ENSG00000154655:ENST00000535782:exon6:c.G421A:p.V141I;ENSG00000154655:ENST00000400104:exon13:c.G982A:p.V328I;ENSG00000154655:ENST00000284898:exon13:c.G982A:p.V328I;	0.00275945190220991	0.056
18	6171942	C	A	18	6171943	y	y	splicing	L3MBTL4(NM_173464:exon14:c.982-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.982-1G>T;ENST00000400105:exon14:c.982-1G>T;ENST00000284898:exon14:c.982-1G>T;ENST00000535782:exon7:c.421-1G>T;ENST00000400104:exon14:c.982-1G>T)	.	.	0.999989483462543	0.952
18	6171942	C	G	18	6171943	y	y	splicing	L3MBTL4(NM_173464:exon14:c.982-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.982-1G>C;ENST00000400105:exon14:c.982-1G>C;ENST00000284898:exon14:c.982-1G>C;ENST00000535782:exon7:c.421-1G>C;ENST00000400104:exon14:c.982-1G>C)	.	.	0.999989483462543	0.952
18	6171942	C	T	18	6171943	y	y	splicing	L3MBTL4(NM_173464:exon14:c.982-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.982-1G>A;ENST00000400105:exon14:c.982-1G>A;ENST00000284898:exon14:c.982-1G>A;ENST00000535782:exon7:c.421-1G>A;ENST00000400104:exon14:c.982-1G>A)	.	.	0.999989483462543	0.952
18	6171943	T	A	18	6171944	y	y	splicing	L3MBTL4(NM_173464:exon14:c.982-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.982-2A>T;ENST00000400105:exon14:c.982-2A>T;ENST00000284898:exon14:c.982-2A>T;ENST00000535782:exon7:c.421-2A>T;ENST00000400104:exon14:c.982-2A>T)	.	.	0.999986607513753	0.94
18	6171943	T	C	18	6171944	y	y	splicing	L3MBTL4(NM_173464:exon14:c.982-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.982-2A>G;ENST00000400105:exon14:c.982-2A>G;ENST00000284898:exon14:c.982-2A>G;ENST00000535782:exon7:c.421-2A>G;ENST00000400104:exon14:c.982-2A>G)	.	.	0.999986607513753	0.936
18	6171943	T	G	18	6171944	y	y	splicing	L3MBTL4(NM_173464:exon14:c.982-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon14:c.982-2A>C;ENST00000400105:exon14:c.982-2A>C;ENST00000284898:exon14:c.982-2A>C;ENST00000535782:exon7:c.421-2A>C;ENST00000400104:exon14:c.982-2A>C)	.	.	0.999986607513753	0.932
18	6171944	G	A	18	6171945	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0205360865453821	0.108
18	6171944	G	C	18	6171945	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999685233423245	0.844
18	6171944	G	T	18	6171945	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.7950579975416	0.664
18	6171945	T	A	18	6171946	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.014153536297946	0.156
18	6171945	T	C	18	6171946	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999716728664482	0.876
18	6171945	T	G	18	6171946	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0181132277208341	0.14
18	6171946	T	A	18	6171947	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.21552206282314E-5	0.0
18	6171946	T	C	18	6171947	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.0419772343268E-5	0.008
18	6171946	T	G	18	6171947	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.57042109208461E-5	0.0
18	6171947	A	C	18	6171948	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0123165916182545	0.456
18	6171947	A	G	18	6171948	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.75284100638486E-5	0.06
18	6171947	A	T	18	6171948	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0170474183717495	0.422
18	6171948	A	C	18	6171949	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.650417218246631	0.568
18	6171948	A	G	18	6171949	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.17696191311977E-4	0.036
18	6171948	A	T	18	6171949	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.994881296322767	0.804
18	6171949	A	C	18	6171950	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00644901259367125	0.206
18	6171949	A	G	18	6171950	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.11125605775585E-4	0.004
18	6171949	A	T	18	6171950	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0723422969626271	0.3
18	6171950	A	C	18	6171951	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0436637275295486	0.412
18	6171950	A	G	18	6171951	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.51802999541308E-4	0.062
18	6171950	A	T	18	6171951	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0733660790718467	0.422
18	6171951	C	A	18	6171952	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.48708511619962E-5	0.014
18	6171951	C	G	18	6171952	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.3703053744252E-5	0.006
18	6171951	C	T	18	6171952	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.04303421191058E-4	0.01
18	6171952	G	A	18	6171953	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.47179385520582E-4	0.004
18	6171952	G	C	18	6171953	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0106938526901544	0.156
18	6171952	G	T	18	6171953	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999826305225376	0.976
18	6171953	A	C	18	6171954	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0266398482694352	0.342
18	6171953	A	G	18	6171954	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0178741726154779	0.204
18	6171953	A	T	18	6171954	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0192643184348817	0.328
18	6213140	A	C	18	6213141	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.79292732557744E-4	0.036
18	6213140	A	G	18	6213141	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00107555182171996	0.042
18	6213140	A	T	18	6213141	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.58253772079174E-4	0.006
18	6213141	T	A	18	6213142	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.84583737074743E-5	0.0
18	6213141	T	C	18	6213142	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.84583737074743E-5	0.0
18	6213141	T	G	18	6213142	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.73177220092583E-5	0.0
18	6213142	A	C	18	6213143	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.01250957702109E-4	0.16
18	6213142	A	G	18	6213143	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00793042005597927	0.24
18	6213142	A	T	18	6213143	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00584209581796309	0.18
18	6213143	T	A	18	6213144	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.59903831596305E-5	0.016
18	6213143	T	C	18	6213144	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.45951707796877E-4	0.072
18	6213143	T	G	18	6213144	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.90098534226019E-5	0.016
18	6213144	G	A	18	6213145	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.83967169314283E-4	0.016
18	6213144	G	C	18	6213145	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.31413425259827E-4	0.008
18	6213144	G	T	18	6213145	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.57056013573599E-4	0.074
18	6213145	T	A	18	6213146	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999112602613019	0.712
18	6213145	T	C	18	6213146	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.927292054364595	0.698
18	6213145	T	G	18	6213146	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999902401468592	0.834
18	6213146	A	C	18	6213147	y	y	splicing	L3MBTL4(NM_173464:exon13:c.981+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.981+2T>G;ENST00000400105:exon13:c.981+2T>G;ENST00000284898:exon13:c.981+2T>G;ENST00000535782:exon6:c.420+2T>G;ENST00000400104:exon13:c.981+2T>G)	.	.	0.999989917668626	0.926
18	6213146	A	G	18	6213147	y	y	splicing	L3MBTL4(NM_173464:exon13:c.981+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.981+2T>C;ENST00000400105:exon13:c.981+2T>C;ENST00000284898:exon13:c.981+2T>C;ENST00000535782:exon6:c.420+2T>C;ENST00000400104:exon13:c.981+2T>C)	.	.	0.990093218783903	0.598
18	6213146	A	T	18	6213147	y	y	splicing	L3MBTL4(NM_173464:exon13:c.981+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.981+2T>A;ENST00000400105:exon13:c.981+2T>A;ENST00000284898:exon13:c.981+2T>A;ENST00000535782:exon6:c.420+2T>A;ENST00000400104:exon13:c.981+2T>A)	.	.	0.999989917668626	0.926
18	6213147	C	A	18	6213148	y	y	splicing	L3MBTL4(NM_173464:exon13:c.981+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.981+1G>T;ENST00000400105:exon13:c.981+1G>T;ENST00000284898:exon13:c.981+1G>T;ENST00000535782:exon6:c.420+1G>T;ENST00000400104:exon13:c.981+1G>T)	.	.	0.999986675681007	0.932
18	6213147	C	G	18	6213148	y	y	splicing	L3MBTL4(NM_173464:exon13:c.981+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.981+1G>C;ENST00000400105:exon13:c.981+1G>C;ENST00000284898:exon13:c.981+1G>C;ENST00000535782:exon6:c.420+1G>C;ENST00000400104:exon13:c.981+1G>C)	.	.	0.999986675681007	0.932
18	6213147	C	T	18	6213148	y	y	splicing	L3MBTL4(NM_173464:exon13:c.981+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.981+1G>A;ENST00000400105:exon13:c.981+1G>A;ENST00000284898:exon13:c.981+1G>A;ENST00000535782:exon6:c.420+1G>A;ENST00000400104:exon13:c.981+1G>A)	.	.	0.999986675681007	0.932
18	6213148	C	A	18	6213149	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.G981T:p.K327N;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.G981T:p.K327N;ENSG00000154655:ENST00000317931:exon12:c.G981T:p.K327N;ENSG00000154655:ENST00000535782:exon5:c.G420T:p.K140N;ENSG00000154655:ENST00000400104:exon12:c.G981T:p.K327N;ENSG00000154655:ENST00000284898:exon12:c.G981T:p.K327N;	0.99999485768781	0.992
18	6213148	C	G	18	6213149	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.G981C:p.K327N;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.G981C:p.K327N;ENSG00000154655:ENST00000317931:exon12:c.G981C:p.K327N;ENSG00000154655:ENST00000535782:exon5:c.G420C:p.K140N;ENSG00000154655:ENST00000400104:exon12:c.G981C:p.K327N;ENSG00000154655:ENST00000284898:exon12:c.G981C:p.K327N;	0.99999732354475	0.994
18	6213148	C	T	18	6213149	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon12:c.G981A:p.K327K;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.G981A:p.K327K;ENSG00000154655:ENST00000317931:exon12:c.G981A:p.K327K;ENSG00000154655:ENST00000535782:exon5:c.G420A:p.K140K;ENSG00000154655:ENST00000400104:exon12:c.G981A:p.K327K;ENSG00000154655:ENST00000284898:exon12:c.G981A:p.K327K;	0.999976618959959	1.0
18	6213149	T	A	18	6213150	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.A980T:p.K327M;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.A980T:p.K327M;ENSG00000154655:ENST00000317931:exon12:c.A980T:p.K327M;ENSG00000154655:ENST00000535782:exon5:c.A419T:p.K140M;ENSG00000154655:ENST00000400104:exon12:c.A980T:p.K327M;ENSG00000154655:ENST00000284898:exon12:c.A980T:p.K327M;	0.999896837444638	1.0
18	6213149	T	C	18	6213150	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.A980G:p.K327R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.A980G:p.K327R;ENSG00000154655:ENST00000317931:exon12:c.A980G:p.K327R;ENSG00000154655:ENST00000535782:exon5:c.A419G:p.K140R;ENSG00000154655:ENST00000400104:exon12:c.A980G:p.K327R;ENSG00000154655:ENST00000284898:exon12:c.A980G:p.K327R;	0.999884356531049	0.986
18	6213149	T	G	18	6213150	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.A980C:p.K327T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.A980C:p.K327T;ENSG00000154655:ENST00000317931:exon12:c.A980C:p.K327T;ENSG00000154655:ENST00000535782:exon5:c.A419C:p.K140T;ENSG00000154655:ENST00000400104:exon12:c.A980C:p.K327T;ENSG00000154655:ENST00000284898:exon12:c.A980C:p.K327T;	0.999578410263764	0.984
18	6213150	T	A	18	6213151	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon12:c.A979T:p.K327X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon12:c.A979T:p.K327X;ENSG00000154655:ENST00000317931:exon12:c.A979T:p.K327X;ENSG00000154655:ENST00000535782:exon5:c.A418T:p.K140X;ENSG00000154655:ENST00000400104:exon12:c.A979T:p.K327X;ENSG00000154655:ENST00000284898:exon12:c.A979T:p.K327X;	0.955020363821887	0.74
18	6213150	T	C	18	6213151	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.A979G:p.K327E;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.A979G:p.K327E;ENSG00000154655:ENST00000317931:exon12:c.A979G:p.K327E;ENSG00000154655:ENST00000535782:exon5:c.A418G:p.K140E;ENSG00000154655:ENST00000400104:exon12:c.A979G:p.K327E;ENSG00000154655:ENST00000284898:exon12:c.A979G:p.K327E;	0.00381906277178056	0.04
18	6213150	T	G	18	6213151	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.A979C:p.K327Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.A979C:p.K327Q;ENSG00000154655:ENST00000317931:exon12:c.A979C:p.K327Q;ENSG00000154655:ENST00000535782:exon5:c.A418C:p.K140Q;ENSG00000154655:ENST00000400104:exon12:c.A979C:p.K327Q;ENSG00000154655:ENST00000284898:exon12:c.A979C:p.K327Q;	0.00314817004359429	0.04
18	6213257	C	A	18	6213258	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.G872T:p.R291M;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.G872T:p.R291M;ENSG00000154655:ENST00000317931:exon12:c.G872T:p.R291M;ENSG00000154655:ENST00000535782:exon5:c.G311T:p.R104M;ENSG00000154655:ENST00000400104:exon12:c.G872T:p.R291M;ENSG00000154655:ENST00000284898:exon12:c.G872T:p.R291M;	0.944331876641246	0.806
18	6213257	C	G	18	6213258	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.G872C:p.R291T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.G872C:p.R291T;ENSG00000154655:ENST00000317931:exon12:c.G872C:p.R291T;ENSG00000154655:ENST00000535782:exon5:c.G311C:p.R104T;ENSG00000154655:ENST00000400104:exon12:c.G872C:p.R291T;ENSG00000154655:ENST00000284898:exon12:c.G872C:p.R291T;	0.134878024139462	0.416
18	6213257	C	T	18	6213258	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.G872A:p.R291K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.G872A:p.R291K;ENSG00000154655:ENST00000317931:exon12:c.G872A:p.R291K;ENSG00000154655:ENST00000535782:exon5:c.G311A:p.R104K;ENSG00000154655:ENST00000400104:exon12:c.G872A:p.R291K;ENSG00000154655:ENST00000284898:exon12:c.G872A:p.R291K;	0.0159481528287144	0.216
18	6213258	T	A	18	6213259	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.A871T:p.R291W;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.A871T:p.R291W;ENSG00000154655:ENST00000317931:exon12:c.A871T:p.R291W;ENSG00000154655:ENST00000535782:exon5:c.A310T:p.R104W;ENSG00000154655:ENST00000400104:exon12:c.A871T:p.R291W;ENSG00000154655:ENST00000284898:exon12:c.A871T:p.R291W;	0.001625732112789	0.07
18	6213258	T	C	18	6213259	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon12:c.A871G:p.R291G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.A871G:p.R291G;ENSG00000154655:ENST00000317931:exon12:c.A871G:p.R291G;ENSG00000154655:ENST00000535782:exon5:c.A310G:p.R104G;ENSG00000154655:ENST00000400104:exon12:c.A871G:p.R291G;ENSG00000154655:ENST00000284898:exon12:c.A871G:p.R291G;	8.43164617532007E-4	0.13
18	6213258	T	G	18	6213259	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon12:c.A871C:p.R291R;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon12:c.A871C:p.R291R;ENSG00000154655:ENST00000317931:exon12:c.A871C:p.R291R;ENSG00000154655:ENST00000535782:exon5:c.A310C:p.R104R;ENSG00000154655:ENST00000400104:exon12:c.A871C:p.R291R;ENSG00000154655:ENST00000284898:exon12:c.A871C:p.R291R;	5.46009849456358E-4	0.146
18	6213259	C	A	18	6213260	y	y	splicing	L3MBTL4(NM_173464:exon13:c.871-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.871-1G>T;ENST00000400105:exon13:c.871-1G>T;ENST00000284898:exon13:c.871-1G>T;ENST00000535782:exon6:c.310-1G>T;ENST00000400104:exon13:c.871-1G>T)	.	.	0.999926422448053	0.9
18	6213259	C	G	18	6213260	y	y	splicing	L3MBTL4(NM_173464:exon13:c.871-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.871-1G>C;ENST00000400105:exon13:c.871-1G>C;ENST00000284898:exon13:c.871-1G>C;ENST00000535782:exon6:c.310-1G>C;ENST00000400104:exon13:c.871-1G>C)	.	.	0.999926422448053	0.9
18	6213259	C	T	18	6213260	y	y	splicing	L3MBTL4(NM_173464:exon13:c.871-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.871-1G>A;ENST00000400105:exon13:c.871-1G>A;ENST00000284898:exon13:c.871-1G>A;ENST00000535782:exon6:c.310-1G>A;ENST00000400104:exon13:c.871-1G>A)	.	.	0.999926422448053	0.9
18	6213260	T	A	18	6213261	y	y	splicing	L3MBTL4(NM_173464:exon13:c.871-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.871-2A>T;ENST00000400105:exon13:c.871-2A>T;ENST00000284898:exon13:c.871-2A>T;ENST00000535782:exon6:c.310-2A>T;ENST00000400104:exon13:c.871-2A>T)	.	.	0.99995932652174	0.902
18	6213260	T	C	18	6213261	y	y	splicing	L3MBTL4(NM_173464:exon13:c.871-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.871-2A>G;ENST00000400105:exon13:c.871-2A>G;ENST00000284898:exon13:c.871-2A>G;ENST00000535782:exon6:c.310-2A>G;ENST00000400104:exon13:c.871-2A>G)	.	.	0.99995932652174	0.868
18	6213260	T	G	18	6213261	y	y	splicing	L3MBTL4(NM_173464:exon13:c.871-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon13:c.871-2A>C;ENST00000400105:exon13:c.871-2A>C;ENST00000284898:exon13:c.871-2A>C;ENST00000535782:exon6:c.310-2A>C;ENST00000400104:exon13:c.871-2A>C)	.	.	0.99995932652174	0.884
18	6213261	G	A	18	6213262	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.178817064453925	0.436
18	6213261	G	C	18	6213262	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998068118612853	0.874
18	6213261	G	T	18	6213262	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.987701068713916	0.898
18	6213262	T	A	18	6213263	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.19062602134734E-5	0.076
18	6213262	T	C	18	6213263	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.41944569959431E-4	0.088
18	6213262	T	G	18	6213263	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.05517433174305E-4	0.044
18	6213263	A	C	18	6213264	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.914161184206241	0.642
18	6213263	A	G	18	6213264	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.45121647548238E-4	0.092
18	6213263	A	T	18	6213264	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.528749723567191	0.56
18	6213264	A	C	18	6213265	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.938619381892358	0.718
18	6213264	A	G	18	6213265	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.10450737197465E-4	0.026
18	6213264	A	T	18	6213265	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.790526414932041	0.732
18	6213265	A	C	18	6213266	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999504336956166	0.954
18	6213265	A	G	18	6213266	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00538053090798398	0.088
18	6213265	A	T	18	6213266	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.764350716822427	0.53
18	6213266	T	A	18	6213267	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.94676664783226E-5	0.024
18	6213266	T	C	18	6213267	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.15602167107078E-5	0.0
18	6213266	T	G	18	6213267	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.94676664783226E-5	0.002
18	6213267	G	A	18	6213268	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.78858574526676E-5	0.0
18	6213267	G	C	18	6213268	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.996849608045527	0.98
18	6213267	G	T	18	6213268	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.69266955225494E-4	0.05
18	6213268	T	A	18	6213269	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.92565891656246E-5	0.008
18	6213268	T	C	18	6213269	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.994875899550123	0.894
18	6213268	T	G	18	6213269	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.64552458982511E-5	0.0
18	6213269	T	A	18	6213270	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.55768834543986E-4	0.042
18	6213269	T	C	18	6213270	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.18586053110376E-5	0.0
18	6213269	T	G	18	6213270	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.95533669465696E-5	0.006
18	6213270	A	C	18	6213271	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998131381551549	0.714
18	6213270	A	G	18	6213271	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.78095563547568E-4	0.042
18	6213270	A	T	18	6213271	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.118124236491984	0.522
18	6215741	G	A	18	6215742	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.27993382192308E-5	0.0
18	6215741	G	C	18	6215742	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.84591834988285E-5	0.0
18	6215741	G	T	18	6215742	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.27993382192308E-5	0.002
18	6215742	A	C	18	6215743	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.39252134329056E-4	0.008
18	6215742	A	G	18	6215743	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.73754175113025E-4	0.022
18	6215742	A	T	18	6215743	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.63626172479922E-4	0.002
18	6215743	A	C	18	6215744	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0198705656344184	0.21
18	6215743	A	G	18	6215744	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0134460396373646	0.266
18	6215743	A	T	18	6215744	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.013411932791322	0.264
18	6215744	C	A	18	6215745	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998778736465129	0.89
18	6215744	C	G	18	6215745	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999080407732588	0.842
18	6215744	C	T	18	6215745	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999540274104312	0.882
18	6215745	T	A	18	6215746	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.133406609440911	0.208
18	6215745	T	C	18	6215746	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.215397315185846	0.26
18	6215745	T	G	18	6215746	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.074096110799251	0.244
18	6215746	T	A	18	6215747	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.783121217871352	0.516
18	6215746	T	C	18	6215747	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00298781792649015	0.102
18	6215746	T	G	18	6215747	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998250136467165	0.746
18	6215747	A	C	18	6215748	y	y	splicing	L3MBTL4(NM_173464:exon12:c.870+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.870+2T>G;ENST00000400105:exon12:c.870+2T>G;ENST00000284898:exon12:c.870+2T>G;ENST00000535782:exon5:c.309+2T>G;ENST00000400104:exon12:c.870+2T>G)	.	.	0.999988247793601	0.928
18	6215747	A	G	18	6215748	y	y	splicing	L3MBTL4(NM_173464:exon12:c.870+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.870+2T>C;ENST00000400105:exon12:c.870+2T>C;ENST00000284898:exon12:c.870+2T>C;ENST00000535782:exon5:c.309+2T>C;ENST00000400104:exon12:c.870+2T>C)	.	.	0.99340600729494	0.64
18	6215747	A	T	18	6215748	y	y	splicing	L3MBTL4(NM_173464:exon12:c.870+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.870+2T>A;ENST00000400105:exon12:c.870+2T>A;ENST00000284898:exon12:c.870+2T>A;ENST00000535782:exon5:c.309+2T>A;ENST00000400104:exon12:c.870+2T>A)	.	.	0.999988247793601	0.928
18	6215748	C	A	18	6215749	y	y	splicing	L3MBTL4(NM_173464:exon12:c.870+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.870+1G>T;ENST00000400105:exon12:c.870+1G>T;ENST00000284898:exon12:c.870+1G>T;ENST00000535782:exon5:c.309+1G>T;ENST00000400104:exon12:c.870+1G>T)	.	.	0.999989483462543	0.936
18	6215748	C	G	18	6215749	y	y	splicing	L3MBTL4(NM_173464:exon12:c.870+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.870+1G>C;ENST00000400105:exon12:c.870+1G>C;ENST00000284898:exon12:c.870+1G>C;ENST00000535782:exon5:c.309+1G>C;ENST00000400104:exon12:c.870+1G>C)	.	.	0.999989483462543	0.936
18	6215748	C	T	18	6215749	y	y	splicing	L3MBTL4(NM_173464:exon12:c.870+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.870+1G>A;ENST00000400105:exon12:c.870+1G>A;ENST00000284898:exon12:c.870+1G>A;ENST00000535782:exon5:c.309+1G>A;ENST00000400104:exon12:c.870+1G>A)	.	.	0.999989483462543	0.936
18	6215749	C	A	18	6215750	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.G870T:p.M290I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.G870T:p.M290I;ENSG00000154655:ENST00000317931:exon11:c.G870T:p.M290I;ENSG00000154655:ENST00000535782:exon4:c.G309T:p.M103I;ENSG00000154655:ENST00000400104:exon11:c.G870T:p.M290I;ENSG00000154655:ENST00000284898:exon11:c.G870T:p.M290I;	0.967217740314266	0.896
18	6215749	C	G	18	6215750	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.G870C:p.M290I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.G870C:p.M290I;ENSG00000154655:ENST00000317931:exon11:c.G870C:p.M290I;ENSG00000154655:ENST00000535782:exon4:c.G309C:p.M103I;ENSG00000154655:ENST00000400104:exon11:c.G870C:p.M290I;ENSG00000154655:ENST00000284898:exon11:c.G870C:p.M290I;	0.930644069181227	0.726
18	6215749	C	T	18	6215750	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.G870A:p.M290I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.G870A:p.M290I;ENSG00000154655:ENST00000317931:exon11:c.G870A:p.M290I;ENSG00000154655:ENST00000535782:exon4:c.G309A:p.M103I;ENSG00000154655:ENST00000400104:exon11:c.G870A:p.M290I;ENSG00000154655:ENST00000284898:exon11:c.G870A:p.M290I;	0.899437079291664	0.82
18	6215750	A	C	18	6215751	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.T869G:p.M290R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.T869G:p.M290R;ENSG00000154655:ENST00000317931:exon11:c.T869G:p.M290R;ENSG00000154655:ENST00000535782:exon4:c.T308G:p.M103R;ENSG00000154655:ENST00000400104:exon11:c.T869G:p.M290R;ENSG00000154655:ENST00000284898:exon11:c.T869G:p.M290R;	0.00100774473822306	0.042
18	6215750	A	G	18	6215751	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.T869C:p.M290T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.T869C:p.M290T;ENSG00000154655:ENST00000317931:exon11:c.T869C:p.M290T;ENSG00000154655:ENST00000535782:exon4:c.T308C:p.M103T;ENSG00000154655:ENST00000400104:exon11:c.T869C:p.M290T;ENSG00000154655:ENST00000284898:exon11:c.T869C:p.M290T;	0.00152242310388634	0.026
18	6215750	A	T	18	6215751	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.T869A:p.M290K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.T869A:p.M290K;ENSG00000154655:ENST00000317931:exon11:c.T869A:p.M290K;ENSG00000154655:ENST00000535782:exon4:c.T308A:p.M103K;ENSG00000154655:ENST00000400104:exon11:c.T869A:p.M290K;ENSG00000154655:ENST00000284898:exon11:c.T869A:p.M290K;	0.00114348944844675	0.142
18	6215751	T	A	18	6215752	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.A868T:p.M290L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.A868T:p.M290L;ENSG00000154655:ENST00000317931:exon11:c.A868T:p.M290L;ENSG00000154655:ENST00000535782:exon4:c.A307T:p.M103L;ENSG00000154655:ENST00000400104:exon11:c.A868T:p.M290L;ENSG00000154655:ENST00000284898:exon11:c.A868T:p.M290L;	0.143790889390642	0.226
18	6215751	T	C	18	6215752	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.A868G:p.M290V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.A868G:p.M290V;ENSG00000154655:ENST00000317931:exon11:c.A868G:p.M290V;ENSG00000154655:ENST00000535782:exon4:c.A307G:p.M103V;ENSG00000154655:ENST00000400104:exon11:c.A868G:p.M290V;ENSG00000154655:ENST00000284898:exon11:c.A868G:p.M290V;	4.98790795423762E-4	0.046
18	6215751	T	G	18	6215752	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.A868C:p.M290L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.A868C:p.M290L;ENSG00000154655:ENST00000317931:exon11:c.A868C:p.M290L;ENSG00000154655:ENST00000535782:exon4:c.A307C:p.M103L;ENSG00000154655:ENST00000400104:exon11:c.A868C:p.M290L;ENSG00000154655:ENST00000284898:exon11:c.A868C:p.M290L;	0.0031933146391293	0.022
18	6215833	A	C	18	6215834	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon11:c.T786G:p.G262G;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.T786G:p.G262G;ENSG00000154655:ENST00000317931:exon11:c.T786G:p.G262G;ENSG00000154655:ENST00000535782:exon4:c.T225G:p.G75G;ENSG00000154655:ENST00000400104:exon11:c.T786G:p.G262G;ENSG00000154655:ENST00000284898:exon11:c.T786G:p.G262G;	4.24046611538033E-4	0.164
18	6215833	A	G	18	6215834	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon11:c.T786C:p.G262G;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.T786C:p.G262G;ENSG00000154655:ENST00000317931:exon11:c.T786C:p.G262G;ENSG00000154655:ENST00000535782:exon4:c.T225C:p.G75G;ENSG00000154655:ENST00000400104:exon11:c.T786C:p.G262G;ENSG00000154655:ENST00000284898:exon11:c.T786C:p.G262G;	0.00110984678101283	0.192
18	6215833	A	T	18	6215834	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon11:c.T786A:p.G262G;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.T786A:p.G262G;ENSG00000154655:ENST00000317931:exon11:c.T786A:p.G262G;ENSG00000154655:ENST00000535782:exon4:c.T225A:p.G75G;ENSG00000154655:ENST00000400104:exon11:c.T786A:p.G262G;ENSG00000154655:ENST00000284898:exon11:c.T786A:p.G262G;	0.00131082431251682	0.136
18	6215834	C	A	18	6215835	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.G785T:p.G262V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.G785T:p.G262V;ENSG00000154655:ENST00000317931:exon11:c.G785T:p.G262V;ENSG00000154655:ENST00000535782:exon4:c.G224T:p.G75V;ENSG00000154655:ENST00000400104:exon11:c.G785T:p.G262V;ENSG00000154655:ENST00000284898:exon11:c.G785T:p.G262V;	0.997477670624536	0.906
18	6215834	C	G	18	6215835	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.G785C:p.G262A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.G785C:p.G262A;ENSG00000154655:ENST00000317931:exon11:c.G785C:p.G262A;ENSG00000154655:ENST00000535782:exon4:c.G224C:p.G75A;ENSG00000154655:ENST00000400104:exon11:c.G785C:p.G262A;ENSG00000154655:ENST00000284898:exon11:c.G785C:p.G262A;	0.254252140073283	0.716
18	6215834	C	T	18	6215835	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon11:c.G785A:p.G262D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon11:c.G785A:p.G262D;ENSG00000154655:ENST00000317931:exon11:c.G785A:p.G262D;ENSG00000154655:ENST00000535782:exon4:c.G224A:p.G75D;ENSG00000154655:ENST00000400104:exon11:c.G785A:p.G262D;ENSG00000154655:ENST00000284898:exon11:c.G785A:p.G262D;	0.0136683006045451	0.318
18	6215835	C	A	18	6215836	y	y	splicing	L3MBTL4(NM_173464:exon12:c.785-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.785-1G>T;ENST00000400105:exon12:c.785-1G>T;ENST00000284898:exon12:c.785-1G>T;ENST00000535782:exon5:c.224-1G>T;ENST00000400104:exon12:c.785-1G>T)	.	.	0.99993314117114	0.928
18	6215835	C	G	18	6215836	y	y	splicing	L3MBTL4(NM_173464:exon12:c.785-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.785-1G>C;ENST00000400105:exon12:c.785-1G>C;ENST00000284898:exon12:c.785-1G>C;ENST00000535782:exon5:c.224-1G>C;ENST00000400104:exon12:c.785-1G>C)	.	.	0.99993314117114	0.932
18	6215835	C	T	18	6215836	y	y	splicing	L3MBTL4(NM_173464:exon12:c.785-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.785-1G>A;ENST00000400105:exon12:c.785-1G>A;ENST00000284898:exon12:c.785-1G>A;ENST00000535782:exon5:c.224-1G>A;ENST00000400104:exon12:c.785-1G>A)	.	.	0.999974090184857	0.93
18	6215836	T	A	18	6215837	y	y	splicing	L3MBTL4(NM_173464:exon12:c.785-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.785-2A>T;ENST00000400105:exon12:c.785-2A>T;ENST00000284898:exon12:c.785-2A>T;ENST00000535782:exon5:c.224-2A>T;ENST00000400104:exon12:c.785-2A>T)	.	.	0.99994568797423	0.928
18	6215836	T	C	18	6215837	y	y	splicing	L3MBTL4(NM_173464:exon12:c.785-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.785-2A>G;ENST00000400105:exon12:c.785-2A>G;ENST00000284898:exon12:c.785-2A>G;ENST00000535782:exon5:c.224-2A>G;ENST00000400104:exon12:c.785-2A>G)	.	.	0.99994568797423	0.938
18	6215836	T	G	18	6215837	y	y	splicing	L3MBTL4(NM_173464:exon12:c.785-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon12:c.785-2A>C;ENST00000400105:exon12:c.785-2A>C;ENST00000284898:exon12:c.785-2A>C;ENST00000535782:exon5:c.224-2A>C;ENST00000400104:exon12:c.785-2A>C)	.	.	0.99994568797423	0.938
18	6215837	G	A	18	6215838	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.6219321528483E-5	0.014
18	6215837	G	C	18	6215838	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.973235216747186	0.904
18	6215837	G	T	18	6215838	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.110196976745883	0.32
18	6215838	A	C	18	6215839	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00186144582885873	0.05
18	6215838	A	G	18	6215839	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0020976012358733	0.056
18	6215838	A	T	18	6215839	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00327199524148473	0.046
18	6215839	A	C	18	6215840	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.789255719003668	0.496
18	6215839	A	G	18	6215840	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00642014320527269	0.074
18	6215839	A	T	18	6215840	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.410600319899736	0.492
18	6215840	A	C	18	6215841	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.359061496071683	0.518
18	6215840	A	G	18	6215841	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.38146641410146E-4	0.01
18	6215840	A	T	18	6215841	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.114684117991115	0.42
18	6215841	A	C	18	6215842	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999706014544988	0.982
18	6215841	A	G	18	6215842	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.79113176494372E-4	0.022
18	6215841	A	T	18	6215842	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00660314277003262	0.066
18	6215842	T	A	18	6215843	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.21507142678626E-5	0.006
18	6215842	T	C	18	6215843	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.02254512747709E-5	0.002
18	6215842	T	G	18	6215843	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.21507142678626E-5	0.004
18	6215843	A	C	18	6215844	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999719217649806	0.994
18	6215843	A	G	18	6215844	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.00784128817791E-4	0.014
18	6215843	A	T	18	6215844	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0814390880682622	0.318
18	6215844	T	A	18	6215845	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.250243698046E-5	0.004
18	6215844	T	C	18	6215845	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.5598698270403E-6	0.0
18	6215844	T	G	18	6215845	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.250243698046E-5	0.0
18	6215845	A	C	18	6215846	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999955418888952	0.978
18	6215845	A	G	18	6215846	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.255334268964913	0.306
18	6215845	A	T	18	6215846	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.639659763456589	0.52
18	6215846	T	A	18	6215847	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.18101770628721E-5	0.002
18	6215846	T	C	18	6215847	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.85011945316774E-5	0.02
18	6215846	T	G	18	6215847	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.18101770628721E-5	0.0
18	6237955	C	A	18	6237956	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00214620993116012	0.008
18	6237955	C	G	18	6237956	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00214620993116012	0.008
18	6237955	C	T	18	6237956	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00217373620354812	0.008
18	6237956	C	A	18	6237957	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.63626172479922E-4	0.002
18	6237956	C	G	18	6237957	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.83428396237351E-4	0.01
18	6237956	C	T	18	6237957	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.88354866346473E-4	0.006
18	6237957	A	C	18	6237958	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0307298622741163	0.262
18	6237957	A	G	18	6237958	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0316425279906652	0.236
18	6237957	A	T	18	6237958	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.186610327783694	0.416
18	6237958	C	A	18	6237959	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999003602279756	0.914
18	6237958	C	G	18	6237959	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998818849438264	0.88
18	6237958	C	T	18	6237959	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999439038617982	0.966
18	6237959	T	A	18	6237960	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998548578664446	0.842
18	6237959	T	C	18	6237960	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.997065830993276	0.884
18	6237959	T	G	18	6237960	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.960701247723718	0.814
18	6237960	C	A	18	6237961	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.772359859284805	0.498
18	6237960	C	G	18	6237961	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.974691193052798	0.694
18	6237960	C	T	18	6237961	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00209206415253753	0.012
18	6237961	A	C	18	6237962	y	y	splicing	L3MBTL4(NM_173464:exon11:c.784+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.784+2T>G;ENST00000400105:exon11:c.784+2T>G;ENST00000284898:exon11:c.784+2T>G;ENST00000535782:exon4:c.223+2T>G;ENST00000400104:exon11:c.784+2T>G)	.	.	0.999989917668626	0.928
18	6237961	A	G	18	6237962	y	y	splicing	L3MBTL4(NM_173464:exon11:c.784+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.784+2T>C;ENST00000400105:exon11:c.784+2T>C;ENST00000284898:exon11:c.784+2T>C;ENST00000535782:exon4:c.223+2T>C;ENST00000400104:exon11:c.784+2T>C)	.	.	0.99995132258935	0.856
18	6237961	A	T	18	6237962	y	y	splicing	L3MBTL4(NM_173464:exon11:c.784+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.784+2T>A;ENST00000400105:exon11:c.784+2T>A;ENST00000284898:exon11:c.784+2T>A;ENST00000535782:exon4:c.223+2T>A;ENST00000400104:exon11:c.784+2T>A)	.	.	0.999989917668626	0.928
18	6237962	C	A	18	6237963	y	y	splicing	L3MBTL4(NM_173464:exon11:c.784+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.784+1G>T;ENST00000400105:exon11:c.784+1G>T;ENST00000284898:exon11:c.784+1G>T;ENST00000535782:exon4:c.223+1G>T;ENST00000400104:exon11:c.784+1G>T)	.	.	0.999984815981472	0.926
18	6237962	C	G	18	6237963	y	y	splicing	L3MBTL4(NM_173464:exon11:c.784+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.784+1G>C;ENST00000400105:exon11:c.784+1G>C;ENST00000284898:exon11:c.784+1G>C;ENST00000535782:exon4:c.223+1G>C;ENST00000400104:exon11:c.784+1G>C)	.	.	0.999984815981472	0.926
18	6237962	C	T	18	6237963	y	y	splicing	L3MBTL4(NM_173464:exon11:c.784+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.784+1G>A;ENST00000400105:exon11:c.784+1G>A;ENST00000284898:exon11:c.784+1G>A;ENST00000535782:exon4:c.223+1G>A;ENST00000400104:exon11:c.784+1G>A)	.	.	0.999984815981472	0.926
18	6237963	C	A	18	6237964	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.G784T:p.G262C;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.G784T:p.G262C;ENSG00000154655:ENST00000317931:exon10:c.G784T:p.G262C;ENSG00000154655:ENST00000535782:exon3:c.G223T:p.G75C;ENSG00000154655:ENST00000400104:exon10:c.G784T:p.G262C;ENSG00000154655:ENST00000284898:exon10:c.G784T:p.G262C;	0.998075059133879	0.95
18	6237963	C	G	18	6237964	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.G784C:p.G262R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.G784C:p.G262R;ENSG00000154655:ENST00000317931:exon10:c.G784C:p.G262R;ENSG00000154655:ENST00000535782:exon3:c.G223C:p.G75R;ENSG00000154655:ENST00000400104:exon10:c.G784C:p.G262R;ENSG00000154655:ENST00000284898:exon10:c.G784C:p.G262R;	0.999441294900086	0.974
18	6237963	C	T	18	6237964	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.G784A:p.G262S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.G784A:p.G262S;ENSG00000154655:ENST00000317931:exon10:c.G784A:p.G262S;ENSG00000154655:ENST00000535782:exon3:c.G223A:p.G75S;ENSG00000154655:ENST00000400104:exon10:c.G784A:p.G262S;ENSG00000154655:ENST00000284898:exon10:c.G784A:p.G262S;	0.998494934631501	0.872
18	6237964	T	A	18	6237965	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.A783T:p.Q261H;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.A783T:p.Q261H;ENSG00000154655:ENST00000317931:exon10:c.A783T:p.Q261H;ENSG00000154655:ENST00000535782:exon3:c.A222T:p.Q74H;ENSG00000154655:ENST00000400104:exon10:c.A783T:p.Q261H;ENSG00000154655:ENST00000284898:exon10:c.A783T:p.Q261H;	0.944132567934428	0.684
18	6237964	T	C	18	6237965	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon10:c.A783G:p.Q261Q;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.A783G:p.Q261Q;ENSG00000154655:ENST00000317931:exon10:c.A783G:p.Q261Q;ENSG00000154655:ENST00000535782:exon3:c.A222G:p.Q74Q;ENSG00000154655:ENST00000400104:exon10:c.A783G:p.Q261Q;ENSG00000154655:ENST00000284898:exon10:c.A783G:p.Q261Q;	0.279998081368705	0.39
18	6237964	T	G	18	6237965	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.A783C:p.Q261H;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.A783C:p.Q261H;ENSG00000154655:ENST00000317931:exon10:c.A783C:p.Q261H;ENSG00000154655:ENST00000535782:exon3:c.A222C:p.Q74H;ENSG00000154655:ENST00000400104:exon10:c.A783C:p.Q261H;ENSG00000154655:ENST00000284898:exon10:c.A783C:p.Q261H;	0.499644367628846	0.626
18	6237965	T	A	18	6237966	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.A782T:p.Q261L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.A782T:p.Q261L;ENSG00000154655:ENST00000317931:exon10:c.A782T:p.Q261L;ENSG00000154655:ENST00000535782:exon3:c.A221T:p.Q74L;ENSG00000154655:ENST00000400104:exon10:c.A782T:p.Q261L;ENSG00000154655:ENST00000284898:exon10:c.A782T:p.Q261L;	0.00312228592127734	0.176
18	6237965	T	C	18	6237966	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.A782G:p.Q261R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.A782G:p.Q261R;ENSG00000154655:ENST00000317931:exon10:c.A782G:p.Q261R;ENSG00000154655:ENST00000535782:exon3:c.A221G:p.Q74R;ENSG00000154655:ENST00000400104:exon10:c.A782G:p.Q261R;ENSG00000154655:ENST00000284898:exon10:c.A782G:p.Q261R;	4.20750969456045E-4	0.002
18	6237965	T	G	18	6237966	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.A782C:p.Q261P;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.A782C:p.Q261P;ENSG00000154655:ENST00000317931:exon10:c.A782C:p.Q261P;ENSG00000154655:ENST00000535782:exon3:c.A221C:p.Q74P;ENSG00000154655:ENST00000400104:exon10:c.A782C:p.Q261P;ENSG00000154655:ENST00000284898:exon10:c.A782C:p.Q261P;	4.66560249750018E-5	0.0
18	6238038	A	C	18	6238039	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.T709G:p.C237G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.T709G:p.C237G;ENSG00000154655:ENST00000317931:exon10:c.T709G:p.C237G;ENSG00000154655:ENST00000535782:exon3:c.T148G:p.C50G;ENSG00000154655:ENST00000400104:exon10:c.T709G:p.C237G;ENSG00000154655:ENST00000284898:exon10:c.T709G:p.C237G;	0.0802233941906513	0.354
18	6238038	A	G	18	6238039	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.T709C:p.C237R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.T709C:p.C237R;ENSG00000154655:ENST00000317931:exon10:c.T709C:p.C237R;ENSG00000154655:ENST00000535782:exon3:c.T148C:p.C50R;ENSG00000154655:ENST00000400104:exon10:c.T709C:p.C237R;ENSG00000154655:ENST00000284898:exon10:c.T709C:p.C237R;	0.0791022686281687	0.35
18	6238038	A	T	18	6238039	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.T709A:p.C237S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.T709A:p.C237S;ENSG00000154655:ENST00000317931:exon10:c.T709A:p.C237S;ENSG00000154655:ENST00000535782:exon3:c.T148A:p.C50S;ENSG00000154655:ENST00000400104:exon10:c.T709A:p.C237S;ENSG00000154655:ENST00000284898:exon10:c.T709A:p.C237S;	0.116690178909354	0.358
18	6238039	C	A	18	6238040	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.G708T:p.W236C;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.G708T:p.W236C;ENSG00000154655:ENST00000317931:exon10:c.G708T:p.W236C;ENSG00000154655:ENST00000535782:exon3:c.G147T:p.W49C;ENSG00000154655:ENST00000400104:exon10:c.G708T:p.W236C;ENSG00000154655:ENST00000284898:exon10:c.G708T:p.W236C;	0.999629078542944	0.976
18	6238039	C	G	18	6238040	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon10:c.G708C:p.W236C;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon10:c.G708C:p.W236C;ENSG00000154655:ENST00000317931:exon10:c.G708C:p.W236C;ENSG00000154655:ENST00000535782:exon3:c.G147C:p.W49C;ENSG00000154655:ENST00000400104:exon10:c.G708C:p.W236C;ENSG00000154655:ENST00000284898:exon10:c.G708C:p.W236C;	0.999564853408468	0.982
18	6238039	C	T	18	6238040	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon10:c.G708A:p.W236X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon10:c.G708A:p.W236X;ENSG00000154655:ENST00000317931:exon10:c.G708A:p.W236X;ENSG00000154655:ENST00000535782:exon3:c.G147A:p.W49X;ENSG00000154655:ENST00000400104:exon10:c.G708A:p.W236X;ENSG00000154655:ENST00000284898:exon10:c.G708A:p.W236X;	0.998672267605229	0.852
18	6238040	C	A	18	6238041	y	y	splicing	L3MBTL4(NM_173464:exon11:c.708-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.708-1G>T;ENST00000400105:exon11:c.708-1G>T;ENST00000284898:exon11:c.708-1G>T;ENST00000535782:exon4:c.147-1G>T;ENST00000400104:exon11:c.708-1G>T)	.	.	0.999938422912956	0.938
18	6238040	C	G	18	6238041	y	y	splicing	L3MBTL4(NM_173464:exon11:c.708-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.708-1G>C;ENST00000400105:exon11:c.708-1G>C;ENST00000284898:exon11:c.708-1G>C;ENST00000535782:exon4:c.147-1G>C;ENST00000400104:exon11:c.708-1G>C)	.	.	0.999938422912956	0.948
18	6238040	C	T	18	6238041	y	y	splicing	L3MBTL4(NM_173464:exon11:c.708-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.708-1G>A;ENST00000400105:exon11:c.708-1G>A;ENST00000284898:exon11:c.708-1G>A;ENST00000535782:exon4:c.147-1G>A;ENST00000400104:exon11:c.708-1G>A)	.	.	0.999938422912956	0.936
18	6238041	T	A	18	6238042	y	y	splicing	L3MBTL4(NM_173464:exon11:c.708-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.708-2A>T;ENST00000400105:exon11:c.708-2A>T;ENST00000284898:exon11:c.708-2A>T;ENST00000535782:exon4:c.147-2A>T;ENST00000400104:exon11:c.708-2A>T)	.	.	0.999967001206676	0.94
18	6238041	T	C	18	6238042	y	y	splicing	L3MBTL4(NM_173464:exon11:c.708-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.708-2A>G;ENST00000400105:exon11:c.708-2A>G;ENST00000284898:exon11:c.708-2A>G;ENST00000535782:exon4:c.147-2A>G;ENST00000400104:exon11:c.708-2A>G)	.	.	0.999967001206676	0.944
18	6238041	T	G	18	6238042	y	y	splicing	L3MBTL4(NM_173464:exon11:c.708-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon11:c.708-2A>C;ENST00000400105:exon11:c.708-2A>C;ENST00000284898:exon11:c.708-2A>C;ENST00000535782:exon4:c.147-2A>C;ENST00000400104:exon11:c.708-2A>C)	.	.	0.999967001206676	0.944
18	6238042	G	A	18	6238043	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.265571898435653	0.45
18	6238042	G	C	18	6238043	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999659775338493	0.94
18	6238042	G	T	18	6238043	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.995546052375642	0.698
18	6238043	C	A	18	6238044	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.94170833988524E-5	0.0
18	6238043	C	G	18	6238044	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.93575015102215E-6	0.0
18	6238043	C	T	18	6238044	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.38892803277115E-5	0.0
18	6238044	A	C	18	6238045	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0574175755658118	0.312
18	6238044	A	G	18	6238045	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.83774615015769E-4	0.014
18	6238044	A	T	18	6238045	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999737916257615	0.976
18	6238045	A	C	18	6238046	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.85616575323065E-4	0.118
18	6238045	A	G	18	6238046	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.83792748639361E-5	0.002
18	6238045	A	T	18	6238046	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00272960580717808	0.082
18	6238046	A	C	18	6238047	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0084590912332758	0.096
18	6238046	A	G	18	6238047	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.1559592982994E-4	0.014
18	6238046	A	T	18	6238047	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.127511092374033	0.186
18	6238047	A	C	18	6238048	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.82419047792017E-4	0.06
18	6238047	A	G	18	6238048	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.16361757046739E-5	0.002
18	6238047	A	T	18	6238048	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00217245375614333	0.072
18	6238048	A	C	18	6238049	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.099226647928002	0.264
18	6238048	A	G	18	6238049	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00592823117530965	0.058
18	6238048	A	T	18	6238049	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.215004986733658	0.256
18	6238049	C	A	18	6238050	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.65047354028333E-5	0.0
18	6238049	C	G	18	6238050	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.63065284904611E-6	0.0
18	6238049	C	T	18	6238050	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.68603387465385E-5	0.01
18	6238050	A	C	18	6238051	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00216819336344953	0.146
18	6238050	A	G	18	6238051	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.1585523484543E-5	0.018
18	6238050	A	T	18	6238051	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998700266000843	0.922
18	6238051	G	A	18	6238052	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.90483447480598E-5	0.0
18	6238051	G	C	18	6238052	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.41377040428828E-4	0.006
18	6238051	G	T	18	6238052	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.26291116111286E-4	0.03
18	6239709	T	A	18	6239710	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.08454055578116E-4	0.0
18	6239709	T	C	18	6239710	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.59839626416931E-4	0.014
18	6239709	T	G	18	6239710	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.42863973527116E-5	0.0
18	6239710	A	C	18	6239711	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.96323034491673E-5	0.0
18	6239710	A	G	18	6239711	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.99769738680469E-5	0.002
18	6239710	A	T	18	6239711	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.99769738680469E-5	0.0
18	6239711	T	A	18	6239712	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.4437471435641E-5	0.004
18	6239711	T	C	18	6239712	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.22667303310911E-5	0.0
18	6239711	T	G	18	6239712	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.62580888020181E-5	0.006
18	6239712	C	A	18	6239713	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999972046623276	0.94
18	6239712	C	G	18	6239713	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999964684635711	0.952
18	6239712	C	T	18	6239713	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999946925179185	0.916
18	6239713	T	A	18	6239714	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998731513595352	0.846
18	6239713	T	C	18	6239714	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.98220750465771	0.77
18	6239713	T	G	18	6239714	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.763301527840329	0.576
18	6239714	C	A	18	6239715	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.855847334776857	0.534
18	6239714	C	G	18	6239715	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.83305969908737	0.592
18	6239714	C	T	18	6239715	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.20733368151377E-5	0.0
18	6239715	A	C	18	6239716	y	y	splicing	L3MBTL4(NM_173464:exon10:c.707+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.707+2T>G;ENST00000400105:exon10:c.707+2T>G;ENST00000284898:exon10:c.707+2T>G;ENST00000535782:exon3:c.146+2T>G;ENST00000400104:exon10:c.707+2T>G)	.	.	0.99925213768365	0.586
18	6239715	A	G	18	6239716	y	y	splicing	L3MBTL4(NM_173464:exon10:c.707+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.707+2T>C;ENST00000400105:exon10:c.707+2T>C;ENST00000284898:exon10:c.707+2T>C;ENST00000535782:exon3:c.146+2T>C;ENST00000400104:exon10:c.707+2T>C)	.	.	0.999212535668507	0.58
18	6239715	A	T	18	6239716	y	y	splicing	L3MBTL4(NM_173464:exon10:c.707+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.707+2T>A;ENST00000400105:exon10:c.707+2T>A;ENST00000284898:exon10:c.707+2T>A;ENST00000535782:exon3:c.146+2T>A;ENST00000400104:exon10:c.707+2T>A)	.	.	0.999387139742559	0.58
18	6239716	C	A	18	6239717	y	y	splicing	L3MBTL4(NM_173464:exon10:c.707+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.707+1G>T;ENST00000400105:exon10:c.707+1G>T;ENST00000284898:exon10:c.707+1G>T;ENST00000535782:exon3:c.146+1G>T;ENST00000400104:exon10:c.707+1G>T)	.	.	0.999908649064731	0.756
18	6239716	C	G	18	6239717	y	y	splicing	L3MBTL4(NM_173464:exon10:c.707+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.707+1G>C;ENST00000400105:exon10:c.707+1G>C;ENST00000284898:exon10:c.707+1G>C;ENST00000535782:exon3:c.146+1G>C;ENST00000400104:exon10:c.707+1G>C)	.	.	0.999908649064731	0.718
18	6239716	C	T	18	6239717	y	y	splicing	L3MBTL4(NM_173464:exon10:c.707+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.707+1G>A;ENST00000400105:exon10:c.707+1G>A;ENST00000284898:exon10:c.707+1G>A;ENST00000535782:exon3:c.146+1G>A;ENST00000400104:exon10:c.707+1G>A)	.	.	0.999828631519695	0.774
18	6239717	C	A	18	6239718	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.G707T:p.W236L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.G707T:p.W236L;ENSG00000154655:ENST00000317931:exon9:c.G707T:p.W236L;ENSG00000154655:ENST00000535782:exon2:c.G146T:p.W49L;ENSG00000154655:ENST00000400104:exon9:c.G707T:p.W236L;ENSG00000154655:ENST00000284898:exon9:c.G707T:p.W236L;	0.999992985943714	0.972
18	6239717	C	G	18	6239718	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.G707C:p.W236S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.G707C:p.W236S;ENSG00000154655:ENST00000317931:exon9:c.G707C:p.W236S;ENSG00000154655:ENST00000535782:exon2:c.G146C:p.W49S;ENSG00000154655:ENST00000400104:exon9:c.G707C:p.W236S;ENSG00000154655:ENST00000284898:exon9:c.G707C:p.W236S;	0.999954764421903	1.0
18	6239717	C	T	18	6239718	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon9:c.G707A:p.W236X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon9:c.G707A:p.W236X;ENSG00000154655:ENST00000317931:exon9:c.G707A:p.W236X;ENSG00000154655:ENST00000535782:exon2:c.G146A:p.W49X;ENSG00000154655:ENST00000400104:exon9:c.G707A:p.W236X;ENSG00000154655:ENST00000284898:exon9:c.G707A:p.W236X;	0.99999231820279	1.0
18	6239718	A	C	18	6239719	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.T706G:p.W236G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.T706G:p.W236G;ENSG00000154655:ENST00000317931:exon9:c.T706G:p.W236G;ENSG00000154655:ENST00000535782:exon2:c.T145G:p.W49G;ENSG00000154655:ENST00000400104:exon9:c.T706G:p.W236G;ENSG00000154655:ENST00000284898:exon9:c.T706G:p.W236G;	0.911510309264744	0.75
18	6239718	A	G	18	6239719	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.T706C:p.W236R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.T706C:p.W236R;ENSG00000154655:ENST00000317931:exon9:c.T706C:p.W236R;ENSG00000154655:ENST00000535782:exon2:c.T145C:p.W49R;ENSG00000154655:ENST00000400104:exon9:c.T706C:p.W236R;ENSG00000154655:ENST00000284898:exon9:c.T706C:p.W236R;	0.915116057375682	0.654
18	6239718	A	T	18	6239719	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.T706A:p.W236R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.T706A:p.W236R;ENSG00000154655:ENST00000317931:exon9:c.T706A:p.W236R;ENSG00000154655:ENST00000535782:exon2:c.T145A:p.W49R;ENSG00000154655:ENST00000400104:exon9:c.T706A:p.W236R;ENSG00000154655:ENST00000284898:exon9:c.T706A:p.W236R;	0.587634219458514	0.46
18	6239719	G	A	18	6239720	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon9:c.C705T:p.Y235Y;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.C705T:p.Y235Y;ENSG00000154655:ENST00000317931:exon9:c.C705T:p.Y235Y;ENSG00000154655:ENST00000535782:exon2:c.C144T:p.Y48Y;ENSG00000154655:ENST00000400104:exon9:c.C705T:p.Y235Y;ENSG00000154655:ENST00000284898:exon9:c.C705T:p.Y235Y;	0.181871740915465	0.37
18	6239719	G	C	18	6239720	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon9:c.C705G:p.Y235X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon9:c.C705G:p.Y235X;ENSG00000154655:ENST00000317931:exon9:c.C705G:p.Y235X;ENSG00000154655:ENST00000535782:exon2:c.C144G:p.Y48X;ENSG00000154655:ENST00000400104:exon9:c.C705G:p.Y235X;ENSG00000154655:ENST00000284898:exon9:c.C705G:p.Y235X;	0.12671277904654	0.348
18	6239719	G	T	18	6239720	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon9:c.C705A:p.Y235X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000400105:exon9:c.C705A:p.Y235X;ENSG00000154655:ENST00000317931:exon9:c.C705A:p.Y235X;ENSG00000154655:ENST00000535782:exon2:c.C144A:p.Y48X;ENSG00000154655:ENST00000400104:exon9:c.C705A:p.Y235X;ENSG00000154655:ENST00000284898:exon9:c.C705A:p.Y235X;	0.0517369568719326	0.374
18	6239870	T	A	18	6239871	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.A554T:p.N185I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.A554T:p.N185I;ENSG00000154655:ENST00000317931:exon9:c.A554T:p.N185I;ENSG00000154655:ENST00000400104:exon9:c.A554T:p.N185I;ENSG00000154655:ENST00000284898:exon9:c.A554T:p.N185I;ENSG00000154655:ENST00000583054:exon9:c.A554T:p.N185I;	8.54022464048973E-5	0.184
18	6239870	T	C	18	6239871	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.A554G:p.N185S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.A554G:p.N185S;ENSG00000154655:ENST00000317931:exon9:c.A554G:p.N185S;ENSG00000154655:ENST00000400104:exon9:c.A554G:p.N185S;ENSG00000154655:ENST00000284898:exon9:c.A554G:p.N185S;ENSG00000154655:ENST00000583054:exon9:c.A554G:p.N185S;	1.16058549437564E-4	0.024
18	6239870	T	G	18	6239871	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.A554C:p.N185T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.A554C:p.N185T;ENSG00000154655:ENST00000317931:exon9:c.A554C:p.N185T;ENSG00000154655:ENST00000400104:exon9:c.A554C:p.N185T;ENSG00000154655:ENST00000284898:exon9:c.A554C:p.N185T;ENSG00000154655:ENST00000583054:exon9:c.A554C:p.N185T;	0.00123337363295922	0.144
18	6239871	T	A	18	6239872	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.A553T:p.N185Y;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.A553T:p.N185Y;ENSG00000154655:ENST00000317931:exon9:c.A553T:p.N185Y;ENSG00000154655:ENST00000400104:exon9:c.A553T:p.N185Y;ENSG00000154655:ENST00000284898:exon9:c.A553T:p.N185Y;ENSG00000154655:ENST00000583054:exon9:c.A553T:p.N185Y;	0.00704977347357771	0.294
18	6239871	T	C	18	6239872	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.A553G:p.N185D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.A553G:p.N185D;ENSG00000154655:ENST00000317931:exon9:c.A553G:p.N185D;ENSG00000154655:ENST00000400104:exon9:c.A553G:p.N185D;ENSG00000154655:ENST00000284898:exon9:c.A553G:p.N185D;ENSG00000154655:ENST00000583054:exon9:c.A553G:p.N185D;	1.31852181959341E-4	0.146
18	6239871	T	G	18	6239872	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon9:c.A553C:p.N185H;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon9:c.A553C:p.N185H;ENSG00000154655:ENST00000317931:exon9:c.A553C:p.N185H;ENSG00000154655:ENST00000400104:exon9:c.A553C:p.N185H;ENSG00000154655:ENST00000284898:exon9:c.A553C:p.N185H;ENSG00000154655:ENST00000583054:exon9:c.A553C:p.N185H;	0.00660332416615821	0.294
18	6239872	C	A	18	6239873	y	y	splicing	L3MBTL4(NM_173464:exon10:c.553-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.553-1G>T;ENST00000400105:exon10:c.553-1G>T;ENST00000284898:exon10:c.553-1G>T;ENST00000400104:exon10:c.553-1G>T;ENST00000583054:exon10:c.553-1G>T)	.	.	0.999945259359247	0.83
18	6239872	C	G	18	6239873	y	y	splicing	L3MBTL4(NM_173464:exon10:c.553-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.553-1G>C;ENST00000400105:exon10:c.553-1G>C;ENST00000284898:exon10:c.553-1G>C;ENST00000400104:exon10:c.553-1G>C;ENST00000583054:exon10:c.553-1G>C)	.	.	0.999945259359247	0.83
18	6239872	C	T	18	6239873	y	y	splicing	L3MBTL4(NM_173464:exon10:c.553-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.553-1G>A;ENST00000400105:exon10:c.553-1G>A;ENST00000284898:exon10:c.553-1G>A;ENST00000400104:exon10:c.553-1G>A;ENST00000583054:exon10:c.553-1G>A)	.	.	0.999945259359247	0.822
18	6239873	T	A	18	6239874	y	y	splicing	L3MBTL4(NM_173464:exon10:c.553-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.553-2A>T;ENST00000400105:exon10:c.553-2A>T;ENST00000284898:exon10:c.553-2A>T;ENST00000400104:exon10:c.553-2A>T;ENST00000583054:exon10:c.553-2A>T)	.	.	0.999934416289207	0.82
18	6239873	T	C	18	6239874	y	y	splicing	L3MBTL4(NM_173464:exon10:c.553-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.553-2A>G;ENST00000400105:exon10:c.553-2A>G;ENST00000284898:exon10:c.553-2A>G;ENST00000400104:exon10:c.553-2A>G;ENST00000583054:exon10:c.553-2A>G)	.	.	0.999934416289207	0.826
18	6239873	T	G	18	6239874	y	y	splicing	L3MBTL4(NM_173464:exon10:c.553-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon10:c.553-2A>C;ENST00000400105:exon10:c.553-2A>C;ENST00000284898:exon10:c.553-2A>C;ENST00000400104:exon10:c.553-2A>C;ENST00000583054:exon10:c.553-2A>C)	.	.	0.999934416289207	0.826
18	6239874	A	C	18	6239875	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.994117156797133	0.662
18	6239874	A	G	18	6239875	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.5914615715702E-4	0.028
18	6239874	A	T	18	6239875	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.959540738104121	0.558
18	6239875	A	C	18	6239876	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.34648912871208E-4	0.07
18	6239875	A	G	18	6239876	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.44445751716675E-4	0.06
18	6239875	A	T	18	6239876	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.68015920222861E-4	0.056
18	6239876	C	A	18	6239877	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00145837402196835	0.088
18	6239876	C	G	18	6239877	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.64155489642001E-4	0.06
18	6239876	C	T	18	6239877	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.65895344382178E-4	0.09
18	6239877	G	A	18	6239878	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.50148043648071E-5	0.102
18	6239877	G	C	18	6239878	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00134250730945735	0.216
18	6239877	G	T	18	6239878	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.99682169896519	0.922
18	6239878	C	A	18	6239879	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.75578243676329E-4	0.066
18	6239878	C	G	18	6239879	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.02917223192571E-4	0.04
18	6239878	C	T	18	6239879	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0045281719320179	0.056
18	6239879	A	C	18	6239880	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.409057572403412	0.634
18	6239879	A	G	18	6239880	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.06954308196817E-4	0.028
18	6239879	A	T	18	6239880	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999903931854571	0.984
18	6239880	G	A	18	6239881	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.26729791748858E-4	0.03
18	6239880	G	C	18	6239881	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.94994481533689E-5	0.17
18	6239880	G	T	18	6239881	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00888454943228536	0.194
18	6239881	C	A	18	6239882	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.59100719297814E-5	0.022
18	6239881	C	G	18	6239882	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.59100719297814E-5	0.038
18	6239881	C	T	18	6239882	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.13428893997827E-4	0.032
18	6239882	A	C	18	6239883	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.994927088835754	0.742
18	6239882	A	G	18	6239883	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.207844064218459	0.442
18	6239882	A	T	18	6239883	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999887524877857	0.964
18	6239883	C	A	18	6239884	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.8393248019068E-5	0.0
18	6239883	C	G	18	6239884	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.42954537825878E-5	0.0
18	6239883	C	T	18	6239884	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.09771453875036E-5	0.004
18	6241349	A	C	18	6241350	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.2367740859937E-4	0.006
18	6241349	A	G	18	6241350	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.14319298672495E-4	0.008
18	6241349	A	T	18	6241350	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.52848110122757E-4	0.008
18	6241350	T	A	18	6241351	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00164061108126889	0.02
18	6241350	T	C	18	6241351	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00180812810752929	0.022
18	6241350	T	G	18	6241351	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00180812810752929	0.022
18	6241351	A	C	18	6241352	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.99115191484431	0.866
18	6241351	A	G	18	6241352	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.991189623232293	0.816
18	6241351	A	T	18	6241352	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.993944725347675	0.736
18	6241352	C	A	18	6241353	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999978397475892	0.928
18	6241352	C	G	18	6241353	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999968975254253	1.0
18	6241352	C	T	18	6241353	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999968986766134	0.986
18	6241353	T	A	18	6241354	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999080789428219	0.95
18	6241353	T	C	18	6241354	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.996705625548024	0.966
18	6241353	T	G	18	6241354	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998868124783372	0.886
18	6241354	T	A	18	6241355	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999704510760506	0.83
18	6241354	T	C	18	6241355	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.1741821597624E-4	0.078
18	6241354	T	G	18	6241355	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999626066251251	0.826
18	6241355	A	C	18	6241356	y	y	splicing	L3MBTL4(NM_173464:exon9:c.552+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.552+2T>G;ENST00000400105:exon9:c.552+2T>G;ENST00000284898:exon9:c.552+2T>G;ENST00000400104:exon9:c.552+2T>G;ENST00000583054:exon9:c.552+2T>G)	.	.	0.999991582404039	0.928
18	6241355	A	G	18	6241356	y	y	splicing	L3MBTL4(NM_173464:exon9:c.552+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.552+2T>C;ENST00000400105:exon9:c.552+2T>C;ENST00000284898:exon9:c.552+2T>C;ENST00000400104:exon9:c.552+2T>C;ENST00000583054:exon9:c.552+2T>C)	.	.	0.990990926811556	0.61
18	6241355	A	T	18	6241356	y	y	splicing	L3MBTL4(NM_173464:exon9:c.552+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.552+2T>A;ENST00000400105:exon9:c.552+2T>A;ENST00000284898:exon9:c.552+2T>A;ENST00000400104:exon9:c.552+2T>A;ENST00000583054:exon9:c.552+2T>A)	.	.	0.999993519952936	0.926
18	6241356	C	A	18	6241357	y	y	splicing	L3MBTL4(NM_173464:exon9:c.552+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.552+1G>T;ENST00000400105:exon9:c.552+1G>T;ENST00000284898:exon9:c.552+1G>T;ENST00000400104:exon9:c.552+1G>T;ENST00000583054:exon9:c.552+1G>T)	.	.	0.999921947234823	0.912
18	6241356	C	G	18	6241357	y	y	splicing	L3MBTL4(NM_173464:exon9:c.552+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.552+1G>C;ENST00000400105:exon9:c.552+1G>C;ENST00000284898:exon9:c.552+1G>C;ENST00000400104:exon9:c.552+1G>C;ENST00000583054:exon9:c.552+1G>C)	.	.	0.999921947234823	0.914
18	6241356	C	T	18	6241357	y	y	splicing	L3MBTL4(NM_173464:exon9:c.552+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.552+1G>A;ENST00000400105:exon9:c.552+1G>A;ENST00000284898:exon9:c.552+1G>A;ENST00000400104:exon9:c.552+1G>A;ENST00000583054:exon9:c.552+1G>A)	.	.	0.999921947234823	0.918
18	6241357	A	C	18	6241358	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon8:c.T552G:p.P184P;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.T552G:p.P184P;ENSG00000154655:ENST00000317931:exon8:c.T552G:p.P184P;ENSG00000154655:ENST00000400104:exon8:c.T552G:p.P184P;ENSG00000154655:ENST00000284898:exon8:c.T552G:p.P184P;ENSG00000154655:ENST00000583054:exon8:c.T552G:p.P184P;	0.00632208300543923	0.146
18	6241357	A	G	18	6241358	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon8:c.T552C:p.P184P;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.T552C:p.P184P;ENSG00000154655:ENST00000317931:exon8:c.T552C:p.P184P;ENSG00000154655:ENST00000400104:exon8:c.T552C:p.P184P;ENSG00000154655:ENST00000284898:exon8:c.T552C:p.P184P;ENSG00000154655:ENST00000583054:exon8:c.T552C:p.P184P;	0.00761193425246384	0.354
18	6241357	A	T	18	6241358	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon8:c.T552A:p.P184P;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.T552A:p.P184P;ENSG00000154655:ENST00000317931:exon8:c.T552A:p.P184P;ENSG00000154655:ENST00000400104:exon8:c.T552A:p.P184P;ENSG00000154655:ENST00000284898:exon8:c.T552A:p.P184P;ENSG00000154655:ENST00000583054:exon8:c.T552A:p.P184P;	0.00172729422550474	0.038
18	6241358	G	A	18	6241359	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.C551T:p.P184L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.C551T:p.P184L;ENSG00000154655:ENST00000317931:exon8:c.C551T:p.P184L;ENSG00000154655:ENST00000400104:exon8:c.C551T:p.P184L;ENSG00000154655:ENST00000284898:exon8:c.C551T:p.P184L;ENSG00000154655:ENST00000583054:exon8:c.C551T:p.P184L;	3.02915398206899E-4	0.014
18	6241358	G	C	18	6241359	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.C551G:p.P184R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.C551G:p.P184R;ENSG00000154655:ENST00000317931:exon8:c.C551G:p.P184R;ENSG00000154655:ENST00000400104:exon8:c.C551G:p.P184R;ENSG00000154655:ENST00000284898:exon8:c.C551G:p.P184R;ENSG00000154655:ENST00000583054:exon8:c.C551G:p.P184R;	6.74242652144657E-4	0.05
18	6241358	G	T	18	6241359	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.C551A:p.P184H;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.C551A:p.P184H;ENSG00000154655:ENST00000317931:exon8:c.C551A:p.P184H;ENSG00000154655:ENST00000400104:exon8:c.C551A:p.P184H;ENSG00000154655:ENST00000284898:exon8:c.C551A:p.P184H;ENSG00000154655:ENST00000583054:exon8:c.C551A:p.P184H;	8.59574316407047E-4	0.162
18	6241359	G	A	18	6241360	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.C550T:p.P184S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.C550T:p.P184S;ENSG00000154655:ENST00000317931:exon8:c.C550T:p.P184S;ENSG00000154655:ENST00000400104:exon8:c.C550T:p.P184S;ENSG00000154655:ENST00000284898:exon8:c.C550T:p.P184S;ENSG00000154655:ENST00000583054:exon8:c.C550T:p.P184S;	0.00122380770431402	0.21
18	6241359	G	C	18	6241360	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.C550G:p.P184A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.C550G:p.P184A;ENSG00000154655:ENST00000317931:exon8:c.C550G:p.P184A;ENSG00000154655:ENST00000400104:exon8:c.C550G:p.P184A;ENSG00000154655:ENST00000284898:exon8:c.C550G:p.P184A;ENSG00000154655:ENST00000583054:exon8:c.C550G:p.P184A;	6.59762943343885E-5	0.02
18	6241359	G	T	18	6241360	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.C550A:p.P184T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.C550A:p.P184T;ENSG00000154655:ENST00000317931:exon8:c.C550A:p.P184T;ENSG00000154655:ENST00000400104:exon8:c.C550A:p.P184T;ENSG00000154655:ENST00000284898:exon8:c.C550A:p.P184T;ENSG00000154655:ENST00000583054:exon8:c.C550A:p.P184T;	6.85199387082319E-5	0.03
18	6241447	A	C	18	6241448	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon8:c.T462G:p.G154G;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.T462G:p.G154G;ENSG00000154655:ENST00000317931:exon8:c.T462G:p.G154G;ENSG00000154655:ENST00000400104:exon8:c.T462G:p.G154G;ENSG00000154655:ENST00000284898:exon8:c.T462G:p.G154G;ENSG00000154655:ENST00000583054:exon8:c.T462G:p.G154G;	0.0630085833276728	0.2
18	6241447	A	G	18	6241448	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon8:c.T462C:p.G154G;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.T462C:p.G154G;ENSG00000154655:ENST00000317931:exon8:c.T462C:p.G154G;ENSG00000154655:ENST00000400104:exon8:c.T462C:p.G154G;ENSG00000154655:ENST00000284898:exon8:c.T462C:p.G154G;ENSG00000154655:ENST00000583054:exon8:c.T462C:p.G154G;	0.0707579545020136	0.246
18	6241447	A	T	18	6241448	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon8:c.T462A:p.G154G;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.T462A:p.G154G;ENSG00000154655:ENST00000317931:exon8:c.T462A:p.G154G;ENSG00000154655:ENST00000400104:exon8:c.T462A:p.G154G;ENSG00000154655:ENST00000284898:exon8:c.T462A:p.G154G;ENSG00000154655:ENST00000583054:exon8:c.T462A:p.G154G;	0.153615208633666	0.234
18	6241448	C	A	18	6241449	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.G461T:p.G154V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.G461T:p.G154V;ENSG00000154655:ENST00000317931:exon8:c.G461T:p.G154V;ENSG00000154655:ENST00000400104:exon8:c.G461T:p.G154V;ENSG00000154655:ENST00000284898:exon8:c.G461T:p.G154V;ENSG00000154655:ENST00000583054:exon8:c.G461T:p.G154V;	0.966538032818893	0.788
18	6241448	C	G	18	6241449	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.G461C:p.G154A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.G461C:p.G154A;ENSG00000154655:ENST00000317931:exon8:c.G461C:p.G154A;ENSG00000154655:ENST00000400104:exon8:c.G461C:p.G154A;ENSG00000154655:ENST00000284898:exon8:c.G461C:p.G154A;ENSG00000154655:ENST00000583054:exon8:c.G461C:p.G154A;	0.786259995419769	0.722
18	6241448	C	T	18	6241449	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon8:c.G461A:p.G154D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon8:c.G461A:p.G154D;ENSG00000154655:ENST00000317931:exon8:c.G461A:p.G154D;ENSG00000154655:ENST00000400104:exon8:c.G461A:p.G154D;ENSG00000154655:ENST00000284898:exon8:c.G461A:p.G154D;ENSG00000154655:ENST00000583054:exon8:c.G461A:p.G154D;	0.125796800133911	0.242
18	6241449	C	A	18	6241450	y	y	splicing	L3MBTL4(NM_173464:exon9:c.461-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.461-1G>T;ENST00000400105:exon9:c.461-1G>T;ENST00000284898:exon9:c.461-1G>T;ENST00000400104:exon9:c.461-1G>T;ENST00000583054:exon9:c.461-1G>T)	.	.	0.999988247793601	0.92
18	6241449	C	G	18	6241450	y	y	splicing	L3MBTL4(NM_173464:exon9:c.461-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.461-1G>C;ENST00000400105:exon9:c.461-1G>C;ENST00000284898:exon9:c.461-1G>C;ENST00000400104:exon9:c.461-1G>C;ENST00000583054:exon9:c.461-1G>C)	.	.	0.999988247793601	0.92
18	6241449	C	T	18	6241450	y	y	splicing	L3MBTL4(NM_173464:exon9:c.461-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.461-1G>A;ENST00000400105:exon9:c.461-1G>A;ENST00000284898:exon9:c.461-1G>A;ENST00000400104:exon9:c.461-1G>A;ENST00000583054:exon9:c.461-1G>A)	.	.	0.999988247793601	0.908
18	6241450	T	A	18	6241451	y	y	splicing	L3MBTL4(NM_173464:exon9:c.461-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.461-2A>T;ENST00000400105:exon9:c.461-2A>T;ENST00000284898:exon9:c.461-2A>T;ENST00000400104:exon9:c.461-2A>T;ENST00000583054:exon9:c.461-2A>T)	.	.	0.999992446697775	0.926
18	6241450	T	C	18	6241451	y	y	splicing	L3MBTL4(NM_173464:exon9:c.461-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.461-2A>G;ENST00000400105:exon9:c.461-2A>G;ENST00000284898:exon9:c.461-2A>G;ENST00000400104:exon9:c.461-2A>G;ENST00000583054:exon9:c.461-2A>G)	.	.	0.999992446697775	0.926
18	6241450	T	G	18	6241451	y	y	splicing	L3MBTL4(NM_173464:exon9:c.461-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon9:c.461-2A>C;ENST00000400105:exon9:c.461-2A>C;ENST00000284898:exon9:c.461-2A>C;ENST00000400104:exon9:c.461-2A>C;ENST00000583054:exon9:c.461-2A>C)	.	.	0.999992446697775	0.926
18	6241451	A	C	18	6241452	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.942417145585507	0.754
18	6241451	A	G	18	6241452	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00111764097954738	0.018
18	6241451	A	T	18	6241452	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0104474412805284	0.23
18	6241452	A	C	18	6241453	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.96083117570963E-4	0.016
18	6241452	A	G	18	6241453	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00106391141896952	0.01
18	6241452	A	T	18	6241453	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00225907775981232	0.022
18	6241453	A	C	18	6241454	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.344678440065164	0.42
18	6241453	A	G	18	6241454	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.20354356530072E-4	0.022
18	6241453	A	T	18	6241454	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.331348407614127	0.452
18	6241454	A	C	18	6241455	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.455729230250743	0.424
18	6241454	A	G	18	6241455	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.69766257467122E-4	0.036
18	6241454	A	T	18	6241455	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.196667063765794	0.428
18	6241455	A	C	18	6241456	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0033058902856967	0.116
18	6241455	A	G	18	6241456	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.3291458683567E-4	0.004
18	6241455	A	T	18	6241456	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.006829089788582	0.098
18	6241456	A	C	18	6241457	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.66587732682572E-4	0.174
18	6241456	A	G	18	6241457	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.31653667794938E-4	0.012
18	6241456	A	T	18	6241457	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0116364280705609	0.208
18	6241457	A	C	18	6241458	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.20763132422436E-4	0.06
18	6241457	A	G	18	6241458	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.80379242672906E-5	0.0
18	6241457	A	T	18	6241458	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.33060593270605E-4	0.046
18	6241458	G	A	18	6241459	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.17181288831092E-5	0.002
18	6241458	G	C	18	6241459	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.66566128818705E-5	0.014
18	6241458	G	T	18	6241459	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.66566128818705E-5	0.008
18	6241459	C	A	18	6241460	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.86054084189382E-6	0.008
18	6241459	C	G	18	6241460	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.22493652236982E-6	0.004
18	6241459	C	T	18	6241460	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.38574571950375E-5	0.01
18	6241460	A	C	18	6241461	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0284216906097532	0.332
18	6241460	A	G	18	6241461	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.48367158633534E-4	0.004
18	6241460	A	T	18	6241461	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999090778840962	0.944
18	6243285	T	A	18	6243286	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.11389651227104E-4	0.0
18	6243285	T	C	18	6243286	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.00925306948278E-4	0.0
18	6243285	T	G	18	6243286	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.00925306948278E-4	0.0
18	6243286	G	A	18	6243287	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.64928256872287E-4	0.008
18	6243286	G	C	18	6243287	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.85159348457159E-4	0.002
18	6243286	G	T	18	6243287	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.85159348457159E-4	0.0
18	6243287	G	A	18	6243288	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.33277520702959E-5	0.006
18	6243287	G	C	18	6243288	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.54577492006091E-5	0.034
18	6243287	G	T	18	6243288	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.95837264554963E-5	0.002
18	6243288	C	A	18	6243289	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998945636647966	0.804
18	6243288	C	G	18	6243289	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.997924275408972	0.872
18	6243288	C	T	18	6243289	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999524169145711	0.9
18	6243289	T	A	18	6243290	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.83426493239851	0.318
18	6243289	T	C	18	6243290	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.945232141573068	0.484
18	6243289	T	G	18	6243290	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.579638936935444	0.344
18	6243290	T	A	18	6243291	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999633405826038	0.706
18	6243290	T	C	18	6243291	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00295892455018107	0.122
18	6243290	T	G	18	6243291	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.996998496989559	0.792
18	6243291	A	C	18	6243292	y	y	splicing	L3MBTL4(NM_173464:exon8:c.460+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.460+2T>G;ENST00000400105:exon8:c.460+2T>G;ENST00000284898:exon8:c.460+2T>G;ENST00000400104:exon8:c.460+2T>G;ENST00000583054:exon8:c.460+2T>G)	.	.	0.999993519952936	0.928
18	6243291	A	G	18	6243292	y	y	splicing	L3MBTL4(NM_173464:exon8:c.460+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.460+2T>C;ENST00000400105:exon8:c.460+2T>C;ENST00000284898:exon8:c.460+2T>C;ENST00000400104:exon8:c.460+2T>C;ENST00000583054:exon8:c.460+2T>C)	.	.	0.999935627936562	0.882
18	6243291	A	T	18	6243292	y	y	splicing	L3MBTL4(NM_173464:exon8:c.460+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.460+2T>A;ENST00000400105:exon8:c.460+2T>A;ENST00000284898:exon8:c.460+2T>A;ENST00000400104:exon8:c.460+2T>A;ENST00000583054:exon8:c.460+2T>A)	.	.	0.999993519952936	0.928
18	6243292	C	A	18	6243293	y	y	splicing	L3MBTL4(NM_173464:exon8:c.460+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.460+1G>T;ENST00000400105:exon8:c.460+1G>T;ENST00000284898:exon8:c.460+1G>T;ENST00000400104:exon8:c.460+1G>T;ENST00000583054:exon8:c.460+1G>T)	.	.	0.999988247793601	0.936
18	6243292	C	G	18	6243293	y	y	splicing	L3MBTL4(NM_173464:exon8:c.460+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.460+1G>C;ENST00000400105:exon8:c.460+1G>C;ENST00000284898:exon8:c.460+1G>C;ENST00000400104:exon8:c.460+1G>C;ENST00000583054:exon8:c.460+1G>C)	.	.	0.999988247793601	0.936
18	6243292	C	T	18	6243293	y	y	splicing	L3MBTL4(NM_173464:exon8:c.460+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.460+1G>A;ENST00000400105:exon8:c.460+1G>A;ENST00000284898:exon8:c.460+1G>A;ENST00000400104:exon8:c.460+1G>A;ENST00000583054:exon8:c.460+1G>A)	.	.	0.999988247793601	0.936
18	6243293	C	A	18	6243294	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.G460T:p.G154C;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.G460T:p.G154C;ENSG00000154655:ENST00000317931:exon7:c.G460T:p.G154C;ENSG00000154655:ENST00000400104:exon7:c.G460T:p.G154C;ENSG00000154655:ENST00000284898:exon7:c.G460T:p.G154C;ENSG00000154655:ENST00000583054:exon7:c.G460T:p.G154C;	0.999953796972542	0.986
18	6243293	C	G	18	6243294	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.G460C:p.G154R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.G460C:p.G154R;ENSG00000154655:ENST00000317931:exon7:c.G460C:p.G154R;ENSG00000154655:ENST00000400104:exon7:c.G460C:p.G154R;ENSG00000154655:ENST00000284898:exon7:c.G460C:p.G154R;ENSG00000154655:ENST00000583054:exon7:c.G460C:p.G154R;	0.999984435573995	0.994
18	6243293	C	T	18	6243294	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.G460A:p.G154S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.G460A:p.G154S;ENSG00000154655:ENST00000317931:exon7:c.G460A:p.G154S;ENSG00000154655:ENST00000400104:exon7:c.G460A:p.G154S;ENSG00000154655:ENST00000284898:exon7:c.G460A:p.G154S;ENSG00000154655:ENST00000583054:exon7:c.G460A:p.G154S;	0.999877293760257	0.97
18	6243294	C	A	18	6243295	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.G459T:p.K153N;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.G459T:p.K153N;ENSG00000154655:ENST00000317931:exon7:c.G459T:p.K153N;ENSG00000154655:ENST00000400104:exon7:c.G459T:p.K153N;ENSG00000154655:ENST00000284898:exon7:c.G459T:p.K153N;ENSG00000154655:ENST00000583054:exon7:c.G459T:p.K153N;	8.55458298108281E-5	0.082
18	6243294	C	G	18	6243295	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.G459C:p.K153N;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.G459C:p.K153N;ENSG00000154655:ENST00000317931:exon7:c.G459C:p.K153N;ENSG00000154655:ENST00000400104:exon7:c.G459C:p.K153N;ENSG00000154655:ENST00000284898:exon7:c.G459C:p.K153N;ENSG00000154655:ENST00000583054:exon7:c.G459C:p.K153N;	2.31737872237032E-5	0.066
18	6243294	C	T	18	6243295	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon7:c.G459A:p.K153K;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.G459A:p.K153K;ENSG00000154655:ENST00000317931:exon7:c.G459A:p.K153K;ENSG00000154655:ENST00000400104:exon7:c.G459A:p.K153K;ENSG00000154655:ENST00000284898:exon7:c.G459A:p.K153K;ENSG00000154655:ENST00000583054:exon7:c.G459A:p.K153K;	3.24998231355182E-4	0.068
18	6243295	T	A	18	6243296	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.A458T:p.K153M;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.A458T:p.K153M;ENSG00000154655:ENST00000317931:exon7:c.A458T:p.K153M;ENSG00000154655:ENST00000400104:exon7:c.A458T:p.K153M;ENSG00000154655:ENST00000284898:exon7:c.A458T:p.K153M;ENSG00000154655:ENST00000583054:exon7:c.A458T:p.K153M;	0.0305817642991086	0.228
18	6243295	T	C	18	6243296	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.A458G:p.K153R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.A458G:p.K153R;ENSG00000154655:ENST00000317931:exon7:c.A458G:p.K153R;ENSG00000154655:ENST00000400104:exon7:c.A458G:p.K153R;ENSG00000154655:ENST00000284898:exon7:c.A458G:p.K153R;ENSG00000154655:ENST00000583054:exon7:c.A458G:p.K153R;	0.0045007705020901	0.036
18	6243295	T	G	18	6243296	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.A458C:p.K153T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000400105:exon7:c.A458C:p.K153T;ENSG00000154655:ENST00000317931:exon7:c.A458C:p.K153T;ENSG00000154655:ENST00000400104:exon7:c.A458C:p.K153T;ENSG00000154655:ENST00000284898:exon7:c.A458C:p.K153T;ENSG00000154655:ENST00000583054:exon7:c.A458C:p.K153T;	0.022431026145973	0.106
18	6243427	A	C	18	6243428	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.T326G:p.V109G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon7:c.T326G:p.V109G;ENSG00000154655:ENST00000400105:exon7:c.T326G:p.V109G;ENSG00000154655:ENST00000317931:exon7:c.T326G:p.V109G;ENSG00000154655:ENST00000400104:exon7:c.T326G:p.V109G;ENSG00000154655:ENST00000284898:exon7:c.T326G:p.V109G;ENSG00000154655:ENST00000583054:exon7:c.T326G:p.V109G;	0.459468072634023	0.444
18	6243427	A	G	18	6243428	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.T326C:p.V109A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon7:c.T326C:p.V109A;ENSG00000154655:ENST00000400105:exon7:c.T326C:p.V109A;ENSG00000154655:ENST00000317931:exon7:c.T326C:p.V109A;ENSG00000154655:ENST00000400104:exon7:c.T326C:p.V109A;ENSG00000154655:ENST00000284898:exon7:c.T326C:p.V109A;ENSG00000154655:ENST00000583054:exon7:c.T326C:p.V109A;	0.367105632268929	0.506
18	6243427	A	T	18	6243428	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.T326A:p.V109D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon7:c.T326A:p.V109D;ENSG00000154655:ENST00000400105:exon7:c.T326A:p.V109D;ENSG00000154655:ENST00000317931:exon7:c.T326A:p.V109D;ENSG00000154655:ENST00000400104:exon7:c.T326A:p.V109D;ENSG00000154655:ENST00000284898:exon7:c.T326A:p.V109D;ENSG00000154655:ENST00000583054:exon7:c.T326A:p.V109D;	0.353646643582556	0.48
18	6243428	C	A	18	6243429	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.G325T:p.V109F;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon7:c.G325T:p.V109F;ENSG00000154655:ENST00000400105:exon7:c.G325T:p.V109F;ENSG00000154655:ENST00000317931:exon7:c.G325T:p.V109F;ENSG00000154655:ENST00000400104:exon7:c.G325T:p.V109F;ENSG00000154655:ENST00000284898:exon7:c.G325T:p.V109F;ENSG00000154655:ENST00000583054:exon7:c.G325T:p.V109F;	0.999785494029132	0.942
18	6243428	C	G	18	6243429	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.G325C:p.V109L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon7:c.G325C:p.V109L;ENSG00000154655:ENST00000400105:exon7:c.G325C:p.V109L;ENSG00000154655:ENST00000317931:exon7:c.G325C:p.V109L;ENSG00000154655:ENST00000400104:exon7:c.G325C:p.V109L;ENSG00000154655:ENST00000284898:exon7:c.G325C:p.V109L;ENSG00000154655:ENST00000583054:exon7:c.G325C:p.V109L;	0.99948190326501	0.866
18	6243428	C	T	18	6243429	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon7:c.G325A:p.V109I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon7:c.G325A:p.V109I;ENSG00000154655:ENST00000400105:exon7:c.G325A:p.V109I;ENSG00000154655:ENST00000317931:exon7:c.G325A:p.V109I;ENSG00000154655:ENST00000400104:exon7:c.G325A:p.V109I;ENSG00000154655:ENST00000284898:exon7:c.G325A:p.V109I;ENSG00000154655:ENST00000583054:exon7:c.G325A:p.V109I;	0.995866255966288	0.748
18	6243429	C	A	18	6243430	y	y	splicing	L3MBTL4(NM_173464:exon8:c.325-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.325-1G>T;ENST00000400105:exon8:c.325-1G>T;ENST00000284898:exon8:c.325-1G>T;ENST00000400104:exon8:c.325-1G>T;ENST00000583054:exon8:c.325-1G>T;ENST00000583809:exon8:c.325-1G>T)	.	.	0.999988247793601	0.926
18	6243429	C	G	18	6243430	y	y	splicing	L3MBTL4(NM_173464:exon8:c.325-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.325-1G>C;ENST00000400105:exon8:c.325-1G>C;ENST00000284898:exon8:c.325-1G>C;ENST00000400104:exon8:c.325-1G>C;ENST00000583054:exon8:c.325-1G>C;ENST00000583809:exon8:c.325-1G>C)	.	.	0.999988247793601	0.926
18	6243429	C	T	18	6243430	y	y	splicing	L3MBTL4(NM_173464:exon8:c.325-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.325-1G>A;ENST00000400105:exon8:c.325-1G>A;ENST00000284898:exon8:c.325-1G>A;ENST00000400104:exon8:c.325-1G>A;ENST00000583054:exon8:c.325-1G>A;ENST00000583809:exon8:c.325-1G>A)	.	.	0.999988247793601	0.926
18	6243430	T	A	18	6243431	y	y	splicing	L3MBTL4(NM_173464:exon8:c.325-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.325-2A>T;ENST00000400105:exon8:c.325-2A>T;ENST00000284898:exon8:c.325-2A>T;ENST00000400104:exon8:c.325-2A>T;ENST00000583054:exon8:c.325-2A>T;ENST00000583809:exon8:c.325-2A>T)	.	.	0.999992446697775	0.926
18	6243430	T	C	18	6243431	y	y	splicing	L3MBTL4(NM_173464:exon8:c.325-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.325-2A>G;ENST00000400105:exon8:c.325-2A>G;ENST00000284898:exon8:c.325-2A>G;ENST00000400104:exon8:c.325-2A>G;ENST00000583054:exon8:c.325-2A>G;ENST00000583809:exon8:c.325-2A>G)	.	.	0.999992446697775	0.926
18	6243430	T	G	18	6243431	y	y	splicing	L3MBTL4(NM_173464:exon8:c.325-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon8:c.325-2A>C;ENST00000400105:exon8:c.325-2A>C;ENST00000284898:exon8:c.325-2A>C;ENST00000400104:exon8:c.325-2A>C;ENST00000583054:exon8:c.325-2A>C;ENST00000583809:exon8:c.325-2A>C)	.	.	0.999992446697775	0.926
18	6243431	G	A	18	6243432	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0609528954705252	0.272
18	6243431	G	C	18	6243432	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999702921468699	0.888
18	6243431	G	T	18	6243432	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.930053663096668	0.56
18	6243432	C	A	18	6243433	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.54717026264154E-5	0.002
18	6243432	C	G	18	6243433	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.46172458254572E-5	0.004
18	6243432	C	T	18	6243433	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.97340046617714E-5	0.002
18	6243433	A	C	18	6243434	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0388464305334831	0.444
18	6243433	A	G	18	6243434	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0104603543405982	0.102
18	6243433	A	T	18	6243434	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999846088680524	0.96
18	6243434	A	C	18	6243435	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00204692647724656	0.132
18	6243434	A	G	18	6243435	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.62075244306164E-5	0.0
18	6243434	A	T	18	6243435	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00174134037577566	0.132
18	6243435	G	A	18	6243436	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.3589168904066E-5	0.002
18	6243435	G	C	18	6243436	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.16527931263162E-5	0.018
18	6243435	G	T	18	6243436	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.06972347167158E-4	0.092
18	6243436	A	C	18	6243437	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999371714580694	0.982
18	6243436	A	G	18	6243437	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.29731477706293E-4	0.022
18	6243436	A	T	18	6243437	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.12676520748528E-4	0.074
18	6243437	T	A	18	6243438	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.21777284267081E-5	0.006
18	6243437	T	C	18	6243438	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.46646739058514E-5	0.0
18	6243437	T	G	18	6243438	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.23546131455057E-6	0.0
18	6243438	A	C	18	6243439	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.53434911043796E-4	0.062
18	6243438	A	G	18	6243439	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.89269907744E-5	0.0
18	6243438	A	T	18	6243439	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.5025007257694E-4	0.054
18	6243439	G	A	18	6243440	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.21670231868576E-5	0.004
18	6243439	G	C	18	6243440	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.15993130686E-5	0.012
18	6243439	G	T	18	6243440	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.26744794549232E-4	0.02
18	6243440	A	C	18	6243441	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00140472538564426	0.18
18	6243440	A	G	18	6243441	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.25508557670643E-4	0.002
18	6243440	A	T	18	6243441	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0011469835442384	0.126
18	6244475	C	A	18	6244476	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.58623687666371E-4	0.008
18	6244475	C	G	18	6244476	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.04942334475775E-4	0.0
18	6244475	C	T	18	6244476	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.58623687666371E-4	0.014
18	6244476	C	A	18	6244477	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.13673868883699E-4	0.0
18	6244476	C	G	18	6244477	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00100323254836008	0.006
18	6244476	C	T	18	6244477	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.31707258330041E-4	0.01
18	6244477	T	A	18	6244478	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.21081825728056E-4	0.098
18	6244477	T	C	18	6244478	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.5356876635861E-4	0.004
18	6244477	T	G	18	6244478	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00991784954224203	0.064
18	6244478	C	A	18	6244479	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.990992127594088	0.72
18	6244478	C	G	18	6244479	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.990643528061107	0.798
18	6244478	C	T	18	6244479	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.99733711717048	0.742
18	6244479	T	A	18	6244480	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.810303797384245	0.438
18	6244479	T	C	18	6244480	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.944926759135548	0.458
18	6244479	T	G	18	6244480	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.532908765218558	0.418
18	6244480	T	A	18	6244481	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.996643256507595	0.906
18	6244480	T	C	18	6244481	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.460295362762228	0.588
18	6244480	T	G	18	6244481	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.996022165365376	0.916
18	6244481	A	C	18	6244482	y	y	splicing	L3MBTL4(NM_173464:exon7:c.324+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.324+2T>G;ENST00000400105:exon7:c.324+2T>G;ENST00000284898:exon7:c.324+2T>G;ENST00000400104:exon7:c.324+2T>G;ENST00000583054:exon7:c.324+2T>G;ENST00000583809:exon7:c.324+2T>G)	.	.	0.999988247793601	0.932
18	6244481	A	G	18	6244482	y	y	splicing	L3MBTL4(NM_173464:exon7:c.324+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.324+2T>C;ENST00000400105:exon7:c.324+2T>C;ENST00000284898:exon7:c.324+2T>C;ENST00000400104:exon7:c.324+2T>C;ENST00000583054:exon7:c.324+2T>C;ENST00000583809:exon7:c.324+2T>C)	.	.	0.99340600729494	0.71
18	6244481	A	T	18	6244482	y	y	splicing	L3MBTL4(NM_173464:exon7:c.324+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.324+2T>A;ENST00000400105:exon7:c.324+2T>A;ENST00000284898:exon7:c.324+2T>A;ENST00000400104:exon7:c.324+2T>A;ENST00000583054:exon7:c.324+2T>A;ENST00000583809:exon7:c.324+2T>A)	.	.	0.999988247793601	0.932
18	6244482	C	A	18	6244483	y	y	splicing	L3MBTL4(NM_173464:exon7:c.324+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.324+1G>T;ENST00000400105:exon7:c.324+1G>T;ENST00000284898:exon7:c.324+1G>T;ENST00000400104:exon7:c.324+1G>T;ENST00000583054:exon7:c.324+1G>T;ENST00000583809:exon7:c.324+1G>T)	.	.	0.999990361384395	0.938
18	6244482	C	G	18	6244483	y	y	splicing	L3MBTL4(NM_173464:exon7:c.324+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.324+1G>C;ENST00000400105:exon7:c.324+1G>C;ENST00000284898:exon7:c.324+1G>C;ENST00000400104:exon7:c.324+1G>C;ENST00000583054:exon7:c.324+1G>C;ENST00000583809:exon7:c.324+1G>C)	.	.	0.999990361384395	0.938
18	6244482	C	T	18	6244483	y	y	splicing	L3MBTL4(NM_173464:exon7:c.324+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.324+1G>A;ENST00000400105:exon7:c.324+1G>A;ENST00000284898:exon7:c.324+1G>A;ENST00000400104:exon7:c.324+1G>A;ENST00000583054:exon7:c.324+1G>A;ENST00000583809:exon7:c.324+1G>A)	.	.	0.999990361384395	0.938
18	6244483	C	A	18	6244484	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.G324T:p.E108D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.G324T:p.E108D;ENSG00000154655:ENST00000400105:exon6:c.G324T:p.E108D;ENSG00000154655:ENST00000317931:exon6:c.G324T:p.E108D;ENSG00000154655:ENST00000400104:exon6:c.G324T:p.E108D;ENSG00000154655:ENST00000284898:exon6:c.G324T:p.E108D;ENSG00000154655:ENST00000583054:exon6:c.G324T:p.E108D;	0.999907602454763	0.976
18	6244483	C	G	18	6244484	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.G324C:p.E108D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.G324C:p.E108D;ENSG00000154655:ENST00000400105:exon6:c.G324C:p.E108D;ENSG00000154655:ENST00000317931:exon6:c.G324C:p.E108D;ENSG00000154655:ENST00000400104:exon6:c.G324C:p.E108D;ENSG00000154655:ENST00000284898:exon6:c.G324C:p.E108D;ENSG00000154655:ENST00000583054:exon6:c.G324C:p.E108D;	0.999768657485026	0.946
18	6244483	C	T	18	6244484	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon6:c.G324A:p.E108E;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.G324A:p.E108E;ENSG00000154655:ENST00000400105:exon6:c.G324A:p.E108E;ENSG00000154655:ENST00000317931:exon6:c.G324A:p.E108E;ENSG00000154655:ENST00000400104:exon6:c.G324A:p.E108E;ENSG00000154655:ENST00000284898:exon6:c.G324A:p.E108E;ENSG00000154655:ENST00000583054:exon6:c.G324A:p.E108E;	0.997441196790282	0.952
18	6244484	T	A	18	6244485	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.A323T:p.E108V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.A323T:p.E108V;ENSG00000154655:ENST00000400105:exon6:c.A323T:p.E108V;ENSG00000154655:ENST00000317931:exon6:c.A323T:p.E108V;ENSG00000154655:ENST00000400104:exon6:c.A323T:p.E108V;ENSG00000154655:ENST00000284898:exon6:c.A323T:p.E108V;ENSG00000154655:ENST00000583054:exon6:c.A323T:p.E108V;	0.994476233355437	0.756
18	6244484	T	C	18	6244485	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.A323G:p.E108G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.A323G:p.E108G;ENSG00000154655:ENST00000400105:exon6:c.A323G:p.E108G;ENSG00000154655:ENST00000317931:exon6:c.A323G:p.E108G;ENSG00000154655:ENST00000400104:exon6:c.A323G:p.E108G;ENSG00000154655:ENST00000284898:exon6:c.A323G:p.E108G;ENSG00000154655:ENST00000583054:exon6:c.A323G:p.E108G;	0.99742959349945	0.796
18	6244484	T	G	18	6244485	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.A323C:p.E108A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.A323C:p.E108A;ENSG00000154655:ENST00000400105:exon6:c.A323C:p.E108A;ENSG00000154655:ENST00000317931:exon6:c.A323C:p.E108A;ENSG00000154655:ENST00000400104:exon6:c.A323C:p.E108A;ENSG00000154655:ENST00000284898:exon6:c.A323C:p.E108A;ENSG00000154655:ENST00000583054:exon6:c.A323C:p.E108A;	0.614011863397833	0.624
18	6244485	C	A	18	6244486	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon6:c.G322T:p.E108X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000583809:exon6:c.G322T:p.E108X;ENSG00000154655:ENST00000400105:exon6:c.G322T:p.E108X;ENSG00000154655:ENST00000317931:exon6:c.G322T:p.E108X;ENSG00000154655:ENST00000400104:exon6:c.G322T:p.E108X;ENSG00000154655:ENST00000284898:exon6:c.G322T:p.E108X;ENSG00000154655:ENST00000583054:exon6:c.G322T:p.E108X;	0.988352036622675	0.896
18	6244485	C	G	18	6244486	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.G322C:p.E108Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.G322C:p.E108Q;ENSG00000154655:ENST00000400105:exon6:c.G322C:p.E108Q;ENSG00000154655:ENST00000317931:exon6:c.G322C:p.E108Q;ENSG00000154655:ENST00000400104:exon6:c.G322C:p.E108Q;ENSG00000154655:ENST00000284898:exon6:c.G322C:p.E108Q;ENSG00000154655:ENST00000583054:exon6:c.G322C:p.E108Q;	0.97145887165085	0.802
18	6244485	C	T	18	6244486	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.G322A:p.E108K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.G322A:p.E108K;ENSG00000154655:ENST00000400105:exon6:c.G322A:p.E108K;ENSG00000154655:ENST00000317931:exon6:c.G322A:p.E108K;ENSG00000154655:ENST00000400104:exon6:c.G322A:p.E108K;ENSG00000154655:ENST00000284898:exon6:c.G322A:p.E108K;ENSG00000154655:ENST00000583054:exon6:c.G322A:p.E108K;	0.9698242871012	0.844
18	6244586	T	A	18	6244587	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.A221T:p.D74V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.A221T:p.D74V;ENSG00000154655:ENST00000400105:exon6:c.A221T:p.D74V;ENSG00000154655:ENST00000317931:exon6:c.A221T:p.D74V;ENSG00000154655:ENST00000581231:exon6:c.A221T:p.D74V;ENSG00000154655:ENST00000400104:exon6:c.A221T:p.D74V;ENSG00000154655:ENST00000284898:exon6:c.A221T:p.D74V;ENSG00000154655:ENST00000583054:exon6:c.A221T:p.D74V;	4.16985377542976E-4	0.14
18	6244586	T	C	18	6244587	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.A221G:p.D74G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.A221G:p.D74G;ENSG00000154655:ENST00000400105:exon6:c.A221G:p.D74G;ENSG00000154655:ENST00000317931:exon6:c.A221G:p.D74G;ENSG00000154655:ENST00000581231:exon6:c.A221G:p.D74G;ENSG00000154655:ENST00000400104:exon6:c.A221G:p.D74G;ENSG00000154655:ENST00000284898:exon6:c.A221G:p.D74G;ENSG00000154655:ENST00000583054:exon6:c.A221G:p.D74G;	6.7820935991645E-4	0.042
18	6244586	T	G	18	6244587	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.A221C:p.D74A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.A221C:p.D74A;ENSG00000154655:ENST00000400105:exon6:c.A221C:p.D74A;ENSG00000154655:ENST00000317931:exon6:c.A221C:p.D74A;ENSG00000154655:ENST00000581231:exon6:c.A221C:p.D74A;ENSG00000154655:ENST00000400104:exon6:c.A221C:p.D74A;ENSG00000154655:ENST00000284898:exon6:c.A221C:p.D74A;ENSG00000154655:ENST00000583054:exon6:c.A221C:p.D74A;	0.00128250750680005	0.07
18	6244587	C	A	18	6244588	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.G220T:p.D74Y;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.G220T:p.D74Y;ENSG00000154655:ENST00000400105:exon6:c.G220T:p.D74Y;ENSG00000154655:ENST00000317931:exon6:c.G220T:p.D74Y;ENSG00000154655:ENST00000581231:exon6:c.G220T:p.D74Y;ENSG00000154655:ENST00000400104:exon6:c.G220T:p.D74Y;ENSG00000154655:ENST00000284898:exon6:c.G220T:p.D74Y;ENSG00000154655:ENST00000583054:exon6:c.G220T:p.D74Y;	0.998791368744364	0.748
18	6244587	C	G	18	6244588	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.G220C:p.D74H;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.G220C:p.D74H;ENSG00000154655:ENST00000400105:exon6:c.G220C:p.D74H;ENSG00000154655:ENST00000317931:exon6:c.G220C:p.D74H;ENSG00000154655:ENST00000581231:exon6:c.G220C:p.D74H;ENSG00000154655:ENST00000400104:exon6:c.G220C:p.D74H;ENSG00000154655:ENST00000284898:exon6:c.G220C:p.D74H;ENSG00000154655:ENST00000583054:exon6:c.G220C:p.D74H;	0.961307597001732	0.66
18	6244587	C	T	18	6244588	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon6:c.G220A:p.D74N;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon6:c.G220A:p.D74N;ENSG00000154655:ENST00000400105:exon6:c.G220A:p.D74N;ENSG00000154655:ENST00000317931:exon6:c.G220A:p.D74N;ENSG00000154655:ENST00000581231:exon6:c.G220A:p.D74N;ENSG00000154655:ENST00000400104:exon6:c.G220A:p.D74N;ENSG00000154655:ENST00000284898:exon6:c.G220A:p.D74N;ENSG00000154655:ENST00000583054:exon6:c.G220A:p.D74N;	0.970693141018825	0.774
18	6244588	C	A	18	6244589	y	y	splicing	L3MBTL4(NM_173464:exon7:c.220-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.220-1G>T;ENST00000400105:exon7:c.220-1G>T;ENST00000284898:exon7:c.220-1G>T;ENST00000400104:exon7:c.220-1G>T;ENST00000583054:exon7:c.220-1G>T;ENST00000583809:exon7:c.220-1G>T;ENST00000581231:exon7:c.220-1G>T)	.	.	0.999987886496584	0.95
18	6244588	C	G	18	6244589	y	y	splicing	L3MBTL4(NM_173464:exon7:c.220-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.220-1G>C;ENST00000400105:exon7:c.220-1G>C;ENST00000284898:exon7:c.220-1G>C;ENST00000400104:exon7:c.220-1G>C;ENST00000583054:exon7:c.220-1G>C;ENST00000583809:exon7:c.220-1G>C;ENST00000581231:exon7:c.220-1G>C)	.	.	0.999987886496584	0.95
18	6244588	C	T	18	6244589	y	y	splicing	L3MBTL4(NM_173464:exon7:c.220-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.220-1G>A;ENST00000400105:exon7:c.220-1G>A;ENST00000284898:exon7:c.220-1G>A;ENST00000400104:exon7:c.220-1G>A;ENST00000583054:exon7:c.220-1G>A;ENST00000583809:exon7:c.220-1G>A;ENST00000581231:exon7:c.220-1G>A)	.	.	0.999987886496584	0.95
18	6244589	T	A	18	6244590	y	y	splicing	L3MBTL4(NM_173464:exon7:c.220-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.220-2A>T;ENST00000400105:exon7:c.220-2A>T;ENST00000284898:exon7:c.220-2A>T;ENST00000400104:exon7:c.220-2A>T;ENST00000583054:exon7:c.220-2A>T;ENST00000583809:exon7:c.220-2A>T;ENST00000581231:exon7:c.220-2A>T)	.	.	0.999986741007567	0.944
18	6244589	T	C	18	6244590	y	y	splicing	L3MBTL4(NM_173464:exon7:c.220-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.220-2A>G;ENST00000400105:exon7:c.220-2A>G;ENST00000284898:exon7:c.220-2A>G;ENST00000400104:exon7:c.220-2A>G;ENST00000583054:exon7:c.220-2A>G;ENST00000583809:exon7:c.220-2A>G;ENST00000581231:exon7:c.220-2A>G)	.	.	0.999986741007567	0.944
18	6244589	T	G	18	6244590	y	y	splicing	L3MBTL4(NM_173464:exon7:c.220-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon7:c.220-2A>C;ENST00000400105:exon7:c.220-2A>C;ENST00000284898:exon7:c.220-2A>C;ENST00000400104:exon7:c.220-2A>C;ENST00000583054:exon7:c.220-2A>C;ENST00000583809:exon7:c.220-2A>C;ENST00000581231:exon7:c.220-2A>C)	.	.	0.999986741007567	0.944
18	6244590	A	C	18	6244591	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.983633570561491	0.66
18	6244590	A	G	18	6244591	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.87006760516058E-5	0.016
18	6244590	A	T	18	6244591	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0085390304461636	0.32
18	6244591	C	A	18	6244592	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.59320037232462E-6	0.0
18	6244591	C	G	18	6244592	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.79006486786601E-6	0.002
18	6244591	C	T	18	6244592	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.710151079978E-6	0.0
18	6244592	A	C	18	6244593	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.325329256673432	0.282
18	6244592	A	G	18	6244593	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.01175980981299E-4	0.04
18	6244592	A	T	18	6244593	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.996467198076917	0.806
18	6244593	A	C	18	6244594	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0465905530338854	0.354
18	6244593	A	G	18	6244594	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.59547455634713E-4	0.016
18	6244593	A	T	18	6244594	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.121764168898199	0.386
18	6244594	A	C	18	6244595	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00162226255643237	0.108
18	6244594	A	G	18	6244595	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.90513986032548E-4	0.004
18	6244594	A	T	18	6244595	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00538685218289806	0.104
18	6244595	A	C	18	6244596	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999919107936817	0.996
18	6244595	A	G	18	6244596	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.1316288317239E-4	0.082
18	6244595	A	T	18	6244596	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.206619482041522	0.514
18	6244596	T	A	18	6244597	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.45612225627207E-5	0.0
18	6244596	T	C	18	6244597	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.831932238780766	0.918
18	6244596	T	G	18	6244597	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.37549692584271E-5	0.0
18	6244597	T	A	18	6244598	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.04681422860815E-4	0.02
18	6244597	T	C	18	6244598	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998146812364733	0.988
18	6244597	T	G	18	6244598	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.19786073091751E-5	0.014
18	6244598	T	A	18	6244599	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.09694872752201E-4	0.026
18	6244598	T	C	18	6244599	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.40687989712974E-5	0.0
18	6244598	T	G	18	6244599	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.98501777021816E-5	0.0
18	6244599	C	A	18	6244600	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.82745896808243E-5	0.03
18	6244599	C	G	18	6244600	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.06536439126772E-4	0.014
18	6244599	C	T	18	6244600	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.60406712483829E-4	0.066
18	6263938	T	A	18	6263939	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.38947608296605E-4	0.002
18	6263938	T	C	18	6263939	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.07769740642319E-4	0.006
18	6263938	T	G	18	6263939	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.83637291826102E-4	0.002
18	6263939	G	A	18	6263940	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00169173583190533	0.036
18	6263939	G	C	18	6263940	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.9443547600684E-4	0.03
18	6263939	G	T	18	6263940	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.12250316979191E-4	0.0
18	6263940	G	A	18	6263941	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.09058545313752E-5	0.012
18	6263940	G	C	18	6263941	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.80379915100962E-4	0.026
18	6263940	G	T	18	6263941	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.3308911606596E-4	0.01
18	6263941	C	A	18	6263942	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999667456394925	0.724
18	6263941	C	G	18	6263942	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.995799394770084	0.74
18	6263941	C	T	18	6263942	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.998196787010425	0.708
18	6263942	T	A	18	6263943	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.975680705120379	0.758
18	6263942	T	C	18	6263943	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.528851076186217	0.536
18	6263942	T	G	18	6263943	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.946341739241095	0.684
18	6263943	G	A	18	6263944	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0030000333541813	0.058
18	6263943	G	C	18	6263944	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.14894240962954E-4	0.09
18	6263943	G	T	18	6263944	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.77535108636986E-4	0.108
18	6263944	A	C	18	6263945	y	y	splicing	L3MBTL4(NM_173464:exon6:c.219+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.219+2T>G;ENST00000400105:exon6:c.219+2T>G;ENST00000284898:exon6:c.219+2T>G;ENST00000400104:exon6:c.219+2T>G;ENST00000583054:exon6:c.219+2T>G;ENST00000583809:exon6:c.219+2T>G;ENST00000581231:exon6:c.219+2T>G)	.	.	0.999989917668626	0.924
18	6263944	A	G	18	6263945	y	y	splicing	L3MBTL4(NM_173464:exon6:c.219+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.219+2T>C;ENST00000400105:exon6:c.219+2T>C;ENST00000284898:exon6:c.219+2T>C;ENST00000400104:exon6:c.219+2T>C;ENST00000583054:exon6:c.219+2T>C;ENST00000583809:exon6:c.219+2T>C;ENST00000581231:exon6:c.219+2T>C)	.	.	0.999927265809569	0.896
18	6263944	A	T	18	6263945	y	y	splicing	L3MBTL4(NM_173464:exon6:c.219+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.219+2T>A;ENST00000400105:exon6:c.219+2T>A;ENST00000284898:exon6:c.219+2T>A;ENST00000400104:exon6:c.219+2T>A;ENST00000583054:exon6:c.219+2T>A;ENST00000583809:exon6:c.219+2T>A;ENST00000581231:exon6:c.219+2T>A)	.	.	0.999989917668626	0.924
18	6263945	C	A	18	6263946	y	y	splicing	L3MBTL4(NM_173464:exon6:c.219+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.219+1G>T;ENST00000400105:exon6:c.219+1G>T;ENST00000284898:exon6:c.219+1G>T;ENST00000400104:exon6:c.219+1G>T;ENST00000583054:exon6:c.219+1G>T;ENST00000583809:exon6:c.219+1G>T;ENST00000581231:exon6:c.219+1G>T)	.	.	0.999981760802075	0.936
18	6263945	C	G	18	6263946	y	y	splicing	L3MBTL4(NM_173464:exon6:c.219+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.219+1G>C;ENST00000400105:exon6:c.219+1G>C;ENST00000284898:exon6:c.219+1G>C;ENST00000400104:exon6:c.219+1G>C;ENST00000583054:exon6:c.219+1G>C;ENST00000583809:exon6:c.219+1G>C;ENST00000581231:exon6:c.219+1G>C)	.	.	0.999981760802075	0.936
18	6263945	C	T	18	6263946	y	y	splicing	L3MBTL4(NM_173464:exon6:c.219+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.219+1G>A;ENST00000400105:exon6:c.219+1G>A;ENST00000284898:exon6:c.219+1G>A;ENST00000400104:exon6:c.219+1G>A;ENST00000583054:exon6:c.219+1G>A;ENST00000583809:exon6:c.219+1G>A;ENST00000581231:exon6:c.219+1G>A)	.	.	0.999981760802075	0.936
18	6263946	C	A	18	6263947	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.G219T:p.K73N;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.G219T:p.K73N;ENSG00000154655:ENST00000400105:exon5:c.G219T:p.K73N;ENSG00000154655:ENST00000317931:exon5:c.G219T:p.K73N;ENSG00000154655:ENST00000581231:exon5:c.G219T:p.K73N;ENSG00000154655:ENST00000400104:exon5:c.G219T:p.K73N;ENSG00000154655:ENST00000284898:exon5:c.G219T:p.K73N;ENSG00000154655:ENST00000583054:exon5:c.G219T:p.K73N;	0.99989740460984	0.92
18	6263946	C	G	18	6263947	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.G219C:p.K73N;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.G219C:p.K73N;ENSG00000154655:ENST00000400105:exon5:c.G219C:p.K73N;ENSG00000154655:ENST00000317931:exon5:c.G219C:p.K73N;ENSG00000154655:ENST00000581231:exon5:c.G219C:p.K73N;ENSG00000154655:ENST00000400104:exon5:c.G219C:p.K73N;ENSG00000154655:ENST00000284898:exon5:c.G219C:p.K73N;ENSG00000154655:ENST00000583054:exon5:c.G219C:p.K73N;	0.999976816331734	0.958
18	6263946	C	T	18	6263947	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon5:c.G219A:p.K73K;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.G219A:p.K73K;ENSG00000154655:ENST00000400105:exon5:c.G219A:p.K73K;ENSG00000154655:ENST00000317931:exon5:c.G219A:p.K73K;ENSG00000154655:ENST00000581231:exon5:c.G219A:p.K73K;ENSG00000154655:ENST00000400104:exon5:c.G219A:p.K73K;ENSG00000154655:ENST00000284898:exon5:c.G219A:p.K73K;ENSG00000154655:ENST00000583054:exon5:c.G219A:p.K73K;	0.99989187112438	0.992
18	6263947	T	A	18	6263948	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.A218T:p.K73M;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.A218T:p.K73M;ENSG00000154655:ENST00000400105:exon5:c.A218T:p.K73M;ENSG00000154655:ENST00000317931:exon5:c.A218T:p.K73M;ENSG00000154655:ENST00000581231:exon5:c.A218T:p.K73M;ENSG00000154655:ENST00000400104:exon5:c.A218T:p.K73M;ENSG00000154655:ENST00000284898:exon5:c.A218T:p.K73M;ENSG00000154655:ENST00000583054:exon5:c.A218T:p.K73M;	0.99488244552544	0.776
18	6263947	T	C	18	6263948	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.A218G:p.K73R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.A218G:p.K73R;ENSG00000154655:ENST00000400105:exon5:c.A218G:p.K73R;ENSG00000154655:ENST00000317931:exon5:c.A218G:p.K73R;ENSG00000154655:ENST00000581231:exon5:c.A218G:p.K73R;ENSG00000154655:ENST00000400104:exon5:c.A218G:p.K73R;ENSG00000154655:ENST00000284898:exon5:c.A218G:p.K73R;ENSG00000154655:ENST00000583054:exon5:c.A218G:p.K73R;	0.996229737801897	0.742
18	6263947	T	G	18	6263948	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.A218C:p.K73T;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.A218C:p.K73T;ENSG00000154655:ENST00000400105:exon5:c.A218C:p.K73T;ENSG00000154655:ENST00000317931:exon5:c.A218C:p.K73T;ENSG00000154655:ENST00000581231:exon5:c.A218C:p.K73T;ENSG00000154655:ENST00000400104:exon5:c.A218C:p.K73T;ENSG00000154655:ENST00000284898:exon5:c.A218C:p.K73T;ENSG00000154655:ENST00000583054:exon5:c.A218C:p.K73T;	0.90193213994078	0.67
18	6263948	T	A	18	6263949	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon5:c.A217T:p.K73X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000583809:exon5:c.A217T:p.K73X;ENSG00000154655:ENST00000400105:exon5:c.A217T:p.K73X;ENSG00000154655:ENST00000317931:exon5:c.A217T:p.K73X;ENSG00000154655:ENST00000581231:exon5:c.A217T:p.K73X;ENSG00000154655:ENST00000400104:exon5:c.A217T:p.K73X;ENSG00000154655:ENST00000284898:exon5:c.A217T:p.K73X;ENSG00000154655:ENST00000583054:exon5:c.A217T:p.K73X;	0.680484281479755	0.696
18	6263948	T	C	18	6263949	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.A217G:p.K73E;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.A217G:p.K73E;ENSG00000154655:ENST00000400105:exon5:c.A217G:p.K73E;ENSG00000154655:ENST00000317931:exon5:c.A217G:p.K73E;ENSG00000154655:ENST00000581231:exon5:c.A217G:p.K73E;ENSG00000154655:ENST00000400104:exon5:c.A217G:p.K73E;ENSG00000154655:ENST00000284898:exon5:c.A217G:p.K73E;ENSG00000154655:ENST00000583054:exon5:c.A217G:p.K73E;	0.00775412082342094	0.168
18	6263948	T	G	18	6263949	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.A217C:p.K73Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.A217C:p.K73Q;ENSG00000154655:ENST00000400105:exon5:c.A217C:p.K73Q;ENSG00000154655:ENST00000317931:exon5:c.A217C:p.K73Q;ENSG00000154655:ENST00000581231:exon5:c.A217C:p.K73Q;ENSG00000154655:ENST00000400104:exon5:c.A217C:p.K73Q;ENSG00000154655:ENST00000284898:exon5:c.A217C:p.K73Q;ENSG00000154655:ENST00000583054:exon5:c.A217C:p.K73Q;	1.56014058228643E-4	0.002
18	6264036	G	A	18	6264037	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon5:c.C129T:p.V43V;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.C129T:p.V43V;ENSG00000154655:ENST00000400105:exon5:c.C129T:p.V43V;ENSG00000154655:ENST00000317931:exon5:c.C129T:p.V43V;ENSG00000154655:ENST00000581231:exon5:c.C129T:p.V43V;ENSG00000154655:ENST00000400104:exon5:c.C129T:p.V43V;ENSG00000154655:ENST00000284898:exon5:c.C129T:p.V43V;ENSG00000154655:ENST00000583054:exon5:c.C129T:p.V43V;	8.1199898343557E-5	0.004
18	6264036	G	C	18	6264037	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon5:c.C129G:p.V43V;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.C129G:p.V43V;ENSG00000154655:ENST00000400105:exon5:c.C129G:p.V43V;ENSG00000154655:ENST00000317931:exon5:c.C129G:p.V43V;ENSG00000154655:ENST00000581231:exon5:c.C129G:p.V43V;ENSG00000154655:ENST00000400104:exon5:c.C129G:p.V43V;ENSG00000154655:ENST00000284898:exon5:c.C129G:p.V43V;ENSG00000154655:ENST00000583054:exon5:c.C129G:p.V43V;	1.59930628999319E-5	0.01
18	6264036	G	T	18	6264037	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon5:c.C129A:p.V43V;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.C129A:p.V43V;ENSG00000154655:ENST00000400105:exon5:c.C129A:p.V43V;ENSG00000154655:ENST00000317931:exon5:c.C129A:p.V43V;ENSG00000154655:ENST00000581231:exon5:c.C129A:p.V43V;ENSG00000154655:ENST00000400104:exon5:c.C129A:p.V43V;ENSG00000154655:ENST00000284898:exon5:c.C129A:p.V43V;ENSG00000154655:ENST00000583054:exon5:c.C129A:p.V43V;	2.8581317809318E-5	0.004
18	6264037	A	C	18	6264038	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.T128G:p.V43G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.T128G:p.V43G;ENSG00000154655:ENST00000400105:exon5:c.T128G:p.V43G;ENSG00000154655:ENST00000317931:exon5:c.T128G:p.V43G;ENSG00000154655:ENST00000581231:exon5:c.T128G:p.V43G;ENSG00000154655:ENST00000400104:exon5:c.T128G:p.V43G;ENSG00000154655:ENST00000284898:exon5:c.T128G:p.V43G;ENSG00000154655:ENST00000583054:exon5:c.T128G:p.V43G;	4.63048132418324E-5	0.094
18	6264037	A	G	18	6264038	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.T128C:p.V43A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.T128C:p.V43A;ENSG00000154655:ENST00000400105:exon5:c.T128C:p.V43A;ENSG00000154655:ENST00000317931:exon5:c.T128C:p.V43A;ENSG00000154655:ENST00000581231:exon5:c.T128C:p.V43A;ENSG00000154655:ENST00000400104:exon5:c.T128C:p.V43A;ENSG00000154655:ENST00000284898:exon5:c.T128C:p.V43A;ENSG00000154655:ENST00000583054:exon5:c.T128C:p.V43A;	8.51114713930512E-5	0.006
18	6264037	A	T	18	6264038	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon5:c.T128A:p.V43D;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon5:c.T128A:p.V43D;ENSG00000154655:ENST00000400105:exon5:c.T128A:p.V43D;ENSG00000154655:ENST00000317931:exon5:c.T128A:p.V43D;ENSG00000154655:ENST00000581231:exon5:c.T128A:p.V43D;ENSG00000154655:ENST00000400104:exon5:c.T128A:p.V43D;ENSG00000154655:ENST00000284898:exon5:c.T128A:p.V43D;ENSG00000154655:ENST00000583054:exon5:c.T128A:p.V43D;	1.54836964945721E-5	0.002
18	6264038	C	A	18	6264039	y	y	splicing	L3MBTL4(NM_173464:exon6:c.128-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.128-1G>T;ENST00000400105:exon6:c.128-1G>T;ENST00000284898:exon6:c.128-1G>T;ENST00000400104:exon6:c.128-1G>T;ENST00000583054:exon6:c.128-1G>T;ENST00000583809:exon6:c.128-1G>T;ENST00000581231:exon6:c.128-1G>T)	.	.	0.999915345191403	0.758
18	6264038	C	G	18	6264039	y	y	splicing	L3MBTL4(NM_173464:exon6:c.128-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.128-1G>C;ENST00000400105:exon6:c.128-1G>C;ENST00000284898:exon6:c.128-1G>C;ENST00000400104:exon6:c.128-1G>C;ENST00000583054:exon6:c.128-1G>C;ENST00000583809:exon6:c.128-1G>C;ENST00000581231:exon6:c.128-1G>C)	.	.	0.999915345191403	0.758
18	6264038	C	T	18	6264039	y	y	splicing	L3MBTL4(NM_173464:exon6:c.128-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.128-1G>A;ENST00000400105:exon6:c.128-1G>A;ENST00000284898:exon6:c.128-1G>A;ENST00000400104:exon6:c.128-1G>A;ENST00000583054:exon6:c.128-1G>A;ENST00000583809:exon6:c.128-1G>A;ENST00000581231:exon6:c.128-1G>A)	.	.	0.999897251842637	0.756
18	6264039	T	A	18	6264040	y	y	splicing	L3MBTL4(NM_173464:exon6:c.128-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.128-2A>T;ENST00000400105:exon6:c.128-2A>T;ENST00000284898:exon6:c.128-2A>T;ENST00000400104:exon6:c.128-2A>T;ENST00000583054:exon6:c.128-2A>T;ENST00000583809:exon6:c.128-2A>T;ENST00000581231:exon6:c.128-2A>T)	.	.	0.999869866330605	0.686
18	6264039	T	C	18	6264040	y	y	splicing	L3MBTL4(NM_173464:exon6:c.128-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.128-2A>G;ENST00000400105:exon6:c.128-2A>G;ENST00000284898:exon6:c.128-2A>G;ENST00000400104:exon6:c.128-2A>G;ENST00000583054:exon6:c.128-2A>G;ENST00000583809:exon6:c.128-2A>G;ENST00000581231:exon6:c.128-2A>G)	.	.	0.99988211659661	0.684
18	6264039	T	G	18	6264040	y	y	splicing	L3MBTL4(NM_173464:exon6:c.128-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon6:c.128-2A>C;ENST00000400105:exon6:c.128-2A>C;ENST00000284898:exon6:c.128-2A>C;ENST00000400104:exon6:c.128-2A>C;ENST00000583054:exon6:c.128-2A>C;ENST00000583809:exon6:c.128-2A>C;ENST00000581231:exon6:c.128-2A>C)	.	.	0.99988211659661	0.684
18	6264040	G	A	18	6264041	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.1048188007113E-4	0.008
18	6264040	G	C	18	6264041	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999876192514338	0.97
18	6264040	G	T	18	6264041	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.954509133520916	0.574
18	6264041	G	A	18	6264042	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.00991229440919E-4	0.022
18	6264041	G	C	18	6264042	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.28533212913346E-4	0.016
18	6264041	G	T	18	6264042	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.06210830449071E-4	0.014
18	6264042	A	C	18	6264043	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0167538150213233	0.164
18	6264042	A	G	18	6264043	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.85381442728817E-4	0.034
18	6264042	A	T	18	6264043	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0139080209651948	0.178
18	6264043	A	C	18	6264044	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.120018132255022	0.216
18	6264043	A	G	18	6264044	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00145833403529949	0.052
18	6264043	A	T	18	6264044	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.153161128936057	0.224
18	6264044	G	A	18	6264045	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.67585794898188E-4	0.016
18	6264044	G	C	18	6264045	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.78524276610126E-4	0.056
18	6264044	G	T	18	6264045	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00591152858144161	0.112
18	6264045	A	C	18	6264046	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0195521910853408	0.204
18	6264045	A	G	18	6264046	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.49462434331676E-4	0.002
18	6264045	A	T	18	6264046	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0266328117507294	0.186
18	6264046	G	A	18	6264047	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.08279285533524E-4	0.012
18	6264046	G	C	18	6264047	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.3670203134391E-4	0.022
18	6264046	G	T	18	6264047	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.79200668257022E-4	0.072
18	6264047	A	C	18	6264048	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0174411741038634	0.1
18	6264047	A	G	18	6264048	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.8158292978398E-4	0.08
18	6264047	A	T	18	6264048	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0122689665899048	0.238
18	6264048	A	C	18	6264049	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00276317197546152	0.162
18	6264048	A	G	18	6264049	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.55890196571453E-4	0.03
18	6264048	A	T	18	6264049	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00221879905869404	0.176
18	6264049	A	C	18	6264050	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.80449062941064E-4	0.04
18	6264049	A	G	18	6264050	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.18536424286836E-4	0.0
18	6264049	A	T	18	6264050	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.35555514947189E-4	0.056
18	6301894	A	C	18	6301895	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.42496921064793E-4	0.006
18	6301894	A	G	18	6301895	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.55533203735188E-5	0.0
18	6301894	A	T	18	6301895	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.16289205861175E-5	0.0
18	6301895	T	A	18	6301896	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.39342912773791E-4	0.006
18	6301895	T	C	18	6301896	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.8615719953194E-4	0.002
18	6301895	T	G	18	6301896	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.45900571352954E-5	0.0
18	6301896	A	C	18	6301897	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.47066936012387E-4	0.086
18	6301896	A	G	18	6301897	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0284628668558379	0.268
18	6301896	A	T	18	6301897	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00132851453863498	0.074
18	6301897	A	C	18	6301898	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.46926167856913E-4	0.2
18	6301897	A	G	18	6301898	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.15595683205636E-5	0.0
18	6301897	A	T	18	6301898	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.59742301984168E-5	0.008
18	6301898	T	A	18	6301899	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.732491047769349	0.692
18	6301898	T	C	18	6301899	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.965622640942845	0.85
18	6301898	T	G	18	6301899	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.818502208778038	0.506
18	6301899	T	A	18	6301900	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999930841058448	0.842
18	6301899	T	C	18	6301900	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.634796293015589	0.56
18	6301899	T	G	18	6301900	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999920618254661	0.842
18	6301900	A	C	18	6301901	y	y	splicing	L3MBTL4(NM_173464:exon5:c.127+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.127+2T>G;ENST00000400105:exon5:c.127+2T>G;ENST00000284898:exon5:c.127+2T>G;ENST00000400104:exon5:c.127+2T>G;ENST00000583054:exon5:c.127+2T>G;ENST00000583809:exon5:c.127+2T>G;ENST00000581231:exon5:c.127+2T>G)	.	.	0.999964896440643	0.932
18	6301900	A	G	18	6301901	y	y	splicing	L3MBTL4(NM_173464:exon5:c.127+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.127+2T>C;ENST00000400105:exon5:c.127+2T>C;ENST00000284898:exon5:c.127+2T>C;ENST00000400104:exon5:c.127+2T>C;ENST00000583054:exon5:c.127+2T>C;ENST00000583809:exon5:c.127+2T>C;ENST00000581231:exon5:c.127+2T>C)	.	.	0.977187681094609	0.6
18	6301900	A	T	18	6301901	y	y	splicing	L3MBTL4(NM_173464:exon5:c.127+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.127+2T>A;ENST00000400105:exon5:c.127+2T>A;ENST00000284898:exon5:c.127+2T>A;ENST00000400104:exon5:c.127+2T>A;ENST00000583054:exon5:c.127+2T>A;ENST00000583809:exon5:c.127+2T>A;ENST00000581231:exon5:c.127+2T>A)	.	.	0.999946188727699	0.934
18	6301901	C	A	18	6301902	y	y	splicing	L3MBTL4(NM_173464:exon5:c.127+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.127+1G>T;ENST00000400105:exon5:c.127+1G>T;ENST00000284898:exon5:c.127+1G>T;ENST00000400104:exon5:c.127+1G>T;ENST00000583054:exon5:c.127+1G>T;ENST00000583809:exon5:c.127+1G>T;ENST00000581231:exon5:c.127+1G>T)	.	.	0.999960200702261	0.936
18	6301901	C	G	18	6301902	y	y	splicing	L3MBTL4(NM_173464:exon5:c.127+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.127+1G>C;ENST00000400105:exon5:c.127+1G>C;ENST00000284898:exon5:c.127+1G>C;ENST00000400104:exon5:c.127+1G>C;ENST00000583054:exon5:c.127+1G>C;ENST00000583809:exon5:c.127+1G>C;ENST00000581231:exon5:c.127+1G>C)	.	.	0.999960200702261	0.936
18	6301901	C	T	18	6301902	y	y	splicing	L3MBTL4(NM_173464:exon5:c.127+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.127+1G>A;ENST00000400105:exon5:c.127+1G>A;ENST00000284898:exon5:c.127+1G>A;ENST00000400104:exon5:c.127+1G>A;ENST00000583054:exon5:c.127+1G>A;ENST00000583809:exon5:c.127+1G>A;ENST00000581231:exon5:c.127+1G>A)	.	.	0.999938990645747	0.938
18	6301902	C	A	18	6301903	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.G127T:p.V43F;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.G127T:p.V43F;ENSG00000154655:ENST00000400105:exon4:c.G127T:p.V43F;ENSG00000154655:ENST00000317931:exon4:c.G127T:p.V43F;ENSG00000154655:ENST00000581231:exon4:c.G127T:p.V43F;ENSG00000154655:ENST00000400104:exon4:c.G127T:p.V43F;ENSG00000154655:ENST00000284898:exon4:c.G127T:p.V43F;ENSG00000154655:ENST00000583054:exon4:c.G127T:p.V43F;	0.999926198954855	0.966
18	6301902	C	G	18	6301903	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.G127C:p.V43L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.G127C:p.V43L;ENSG00000154655:ENST00000400105:exon4:c.G127C:p.V43L;ENSG00000154655:ENST00000317931:exon4:c.G127C:p.V43L;ENSG00000154655:ENST00000581231:exon4:c.G127C:p.V43L;ENSG00000154655:ENST00000400104:exon4:c.G127C:p.V43L;ENSG00000154655:ENST00000284898:exon4:c.G127C:p.V43L;ENSG00000154655:ENST00000583054:exon4:c.G127C:p.V43L;	0.999824126920044	0.958
18	6301902	C	T	18	6301903	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.G127A:p.V43I;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.G127A:p.V43I;ENSG00000154655:ENST00000400105:exon4:c.G127A:p.V43I;ENSG00000154655:ENST00000317931:exon4:c.G127A:p.V43I;ENSG00000154655:ENST00000581231:exon4:c.G127A:p.V43I;ENSG00000154655:ENST00000400104:exon4:c.G127A:p.V43I;ENSG00000154655:ENST00000284898:exon4:c.G127A:p.V43I;ENSG00000154655:ENST00000583054:exon4:c.G127A:p.V43I;	0.999912794023876	0.986
18	6301903	G	A	18	6301904	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon4:c.C126T:p.H42H;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.C126T:p.H42H;ENSG00000154655:ENST00000400105:exon4:c.C126T:p.H42H;ENSG00000154655:ENST00000317931:exon4:c.C126T:p.H42H;ENSG00000154655:ENST00000581231:exon4:c.C126T:p.H42H;ENSG00000154655:ENST00000400104:exon4:c.C126T:p.H42H;ENSG00000154655:ENST00000284898:exon4:c.C126T:p.H42H;ENSG00000154655:ENST00000583054:exon4:c.C126T:p.H42H;	1.00535543995078E-4	0.014
18	6301903	G	C	18	6301904	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.C126G:p.H42Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.C126G:p.H42Q;ENSG00000154655:ENST00000400105:exon4:c.C126G:p.H42Q;ENSG00000154655:ENST00000317931:exon4:c.C126G:p.H42Q;ENSG00000154655:ENST00000581231:exon4:c.C126G:p.H42Q;ENSG00000154655:ENST00000400104:exon4:c.C126G:p.H42Q;ENSG00000154655:ENST00000284898:exon4:c.C126G:p.H42Q;ENSG00000154655:ENST00000583054:exon4:c.C126G:p.H42Q;	1.66530020595383E-4	0.002
18	6301903	G	T	18	6301904	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.C126A:p.H42Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.C126A:p.H42Q;ENSG00000154655:ENST00000400105:exon4:c.C126A:p.H42Q;ENSG00000154655:ENST00000317931:exon4:c.C126A:p.H42Q;ENSG00000154655:ENST00000581231:exon4:c.C126A:p.H42Q;ENSG00000154655:ENST00000400104:exon4:c.C126A:p.H42Q;ENSG00000154655:ENST00000284898:exon4:c.C126A:p.H42Q;ENSG00000154655:ENST00000583054:exon4:c.C126A:p.H42Q;	3.19233809863823E-5	0.058
18	6301904	T	A	18	6301905	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.A125T:p.H42L;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.A125T:p.H42L;ENSG00000154655:ENST00000400105:exon4:c.A125T:p.H42L;ENSG00000154655:ENST00000317931:exon4:c.A125T:p.H42L;ENSG00000154655:ENST00000581231:exon4:c.A125T:p.H42L;ENSG00000154655:ENST00000400104:exon4:c.A125T:p.H42L;ENSG00000154655:ENST00000284898:exon4:c.A125T:p.H42L;ENSG00000154655:ENST00000583054:exon4:c.A125T:p.H42L;	2.87740152891432E-4	0.05
18	6301904	T	C	18	6301905	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.A125G:p.H42R;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.A125G:p.H42R;ENSG00000154655:ENST00000400105:exon4:c.A125G:p.H42R;ENSG00000154655:ENST00000317931:exon4:c.A125G:p.H42R;ENSG00000154655:ENST00000581231:exon4:c.A125G:p.H42R;ENSG00000154655:ENST00000400104:exon4:c.A125G:p.H42R;ENSG00000154655:ENST00000284898:exon4:c.A125G:p.H42R;ENSG00000154655:ENST00000583054:exon4:c.A125G:p.H42R;	2.96863410701365E-5	0.0
18	6301904	T	G	18	6301905	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.A125C:p.H42P;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.A125C:p.H42P;ENSG00000154655:ENST00000400105:exon4:c.A125C:p.H42P;ENSG00000154655:ENST00000317931:exon4:c.A125C:p.H42P;ENSG00000154655:ENST00000581231:exon4:c.A125C:p.H42P;ENSG00000154655:ENST00000400104:exon4:c.A125C:p.H42P;ENSG00000154655:ENST00000284898:exon4:c.A125C:p.H42P;ENSG00000154655:ENST00000583054:exon4:c.A125C:p.H42P;	4.1979238722258E-5	0.0
18	6301955	T	A	18	6301956	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.A74T:p.E25V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.A74T:p.E25V;ENSG00000154655:ENST00000400105:exon4:c.A74T:p.E25V;ENSG00000154655:ENST00000317931:exon4:c.A74T:p.E25V;ENSG00000154655:ENST00000581231:exon4:c.A74T:p.E25V;ENSG00000154655:ENST00000400104:exon4:c.A74T:p.E25V;ENSG00000154655:ENST00000284898:exon4:c.A74T:p.E25V;ENSG00000154655:ENST00000583054:exon4:c.A74T:p.E25V;	2.18768099344305E-4	0.0
18	6301955	T	C	18	6301956	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.A74G:p.E25G;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.A74G:p.E25G;ENSG00000154655:ENST00000400105:exon4:c.A74G:p.E25G;ENSG00000154655:ENST00000317931:exon4:c.A74G:p.E25G;ENSG00000154655:ENST00000581231:exon4:c.A74G:p.E25G;ENSG00000154655:ENST00000400104:exon4:c.A74G:p.E25G;ENSG00000154655:ENST00000284898:exon4:c.A74G:p.E25G;ENSG00000154655:ENST00000583054:exon4:c.A74G:p.E25G;	1.37204850406165E-4	0.016
18	6301955	T	G	18	6301956	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.A74C:p.E25A;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.A74C:p.E25A;ENSG00000154655:ENST00000400105:exon4:c.A74C:p.E25A;ENSG00000154655:ENST00000317931:exon4:c.A74C:p.E25A;ENSG00000154655:ENST00000581231:exon4:c.A74C:p.E25A;ENSG00000154655:ENST00000400104:exon4:c.A74C:p.E25A;ENSG00000154655:ENST00000284898:exon4:c.A74C:p.E25A;ENSG00000154655:ENST00000583054:exon4:c.A74C:p.E25A;	2.06260842057405E-4	0.004
18	6301956	C	A	18	6301957	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon4:c.G73T:p.E25X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000583809:exon4:c.G73T:p.E25X;ENSG00000154655:ENST00000400105:exon4:c.G73T:p.E25X;ENSG00000154655:ENST00000317931:exon4:c.G73T:p.E25X;ENSG00000154655:ENST00000581231:exon4:c.G73T:p.E25X;ENSG00000154655:ENST00000400104:exon4:c.G73T:p.E25X;ENSG00000154655:ENST00000284898:exon4:c.G73T:p.E25X;ENSG00000154655:ENST00000583054:exon4:c.G73T:p.E25X;	0.999630390437732	0.952
18	6301956	C	G	18	6301957	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.G73C:p.E25Q;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.G73C:p.E25Q;ENSG00000154655:ENST00000400105:exon4:c.G73C:p.E25Q;ENSG00000154655:ENST00000317931:exon4:c.G73C:p.E25Q;ENSG00000154655:ENST00000581231:exon4:c.G73C:p.E25Q;ENSG00000154655:ENST00000400104:exon4:c.G73C:p.E25Q;ENSG00000154655:ENST00000284898:exon4:c.G73C:p.E25Q;ENSG00000154655:ENST00000583054:exon4:c.G73C:p.E25Q;	0.4127410495379	0.504
18	6301956	C	T	18	6301957	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon4:c.G73A:p.E25K;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon4:c.G73A:p.E25K;ENSG00000154655:ENST00000400105:exon4:c.G73A:p.E25K;ENSG00000154655:ENST00000317931:exon4:c.G73A:p.E25K;ENSG00000154655:ENST00000581231:exon4:c.G73A:p.E25K;ENSG00000154655:ENST00000400104:exon4:c.G73A:p.E25K;ENSG00000154655:ENST00000284898:exon4:c.G73A:p.E25K;ENSG00000154655:ENST00000583054:exon4:c.G73A:p.E25K;	0.0312228669500945	0.258
18	6301957	C	A	18	6301958	y	y	splicing	L3MBTL4(NM_173464:exon5:c.73-1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.73-1G>T;ENST00000400105:exon5:c.73-1G>T;ENST00000284898:exon5:c.73-1G>T;ENST00000400104:exon5:c.73-1G>T;ENST00000583054:exon5:c.73-1G>T;ENST00000583809:exon5:c.73-1G>T;ENST00000581231:exon5:c.73-1G>T)	.	.	0.999958003653399	0.816
18	6301957	C	G	18	6301958	y	y	splicing	L3MBTL4(NM_173464:exon5:c.73-1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.73-1G>C;ENST00000400105:exon5:c.73-1G>C;ENST00000284898:exon5:c.73-1G>C;ENST00000400104:exon5:c.73-1G>C;ENST00000583054:exon5:c.73-1G>C;ENST00000583809:exon5:c.73-1G>C;ENST00000581231:exon5:c.73-1G>C)	.	.	0.999958003653399	0.808
18	6301957	C	T	18	6301958	y	y	splicing	L3MBTL4(NM_173464:exon5:c.73-1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.73-1G>A;ENST00000400105:exon5:c.73-1G>A;ENST00000284898:exon5:c.73-1G>A;ENST00000400104:exon5:c.73-1G>A;ENST00000583054:exon5:c.73-1G>A;ENST00000583809:exon5:c.73-1G>A;ENST00000581231:exon5:c.73-1G>A)	.	.	0.999958003653399	0.84
18	6301958	T	A	18	6301959	y	y	splicing	L3MBTL4(NM_173464:exon5:c.73-2A>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.73-2A>T;ENST00000400105:exon5:c.73-2A>T;ENST00000284898:exon5:c.73-2A>T;ENST00000400104:exon5:c.73-2A>T;ENST00000583054:exon5:c.73-2A>T;ENST00000583809:exon5:c.73-2A>T;ENST00000581231:exon5:c.73-2A>T)	.	.	0.999929575678921	0.768
18	6301958	T	C	18	6301959	y	y	splicing	L3MBTL4(NM_173464:exon5:c.73-2A>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.73-2A>G;ENST00000400105:exon5:c.73-2A>G;ENST00000284898:exon5:c.73-2A>G;ENST00000400104:exon5:c.73-2A>G;ENST00000583054:exon5:c.73-2A>G;ENST00000583809:exon5:c.73-2A>G;ENST00000581231:exon5:c.73-2A>G)	.	.	0.999929575678921	0.772
18	6301958	T	G	18	6301959	y	y	splicing	L3MBTL4(NM_173464:exon5:c.73-2A>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon5:c.73-2A>C;ENST00000400105:exon5:c.73-2A>C;ENST00000284898:exon5:c.73-2A>C;ENST00000400104:exon5:c.73-2A>C;ENST00000583054:exon5:c.73-2A>C;ENST00000583809:exon5:c.73-2A>C;ENST00000581231:exon5:c.73-2A>C)	.	.	0.999929575678921	0.772
18	6301959	A	C	18	6301960	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0357041153420064	0.322
18	6301959	A	G	18	6301960	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.68220537833266E-5	0.01
18	6301959	A	T	18	6301960	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00892721479814816	0.22
18	6301960	G	A	18	6301961	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.51965981708353E-5	0.004
18	6301960	G	C	18	6301961	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.03484179012613E-5	0.01
18	6301960	G	T	18	6301961	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.81275035800628E-5	0.002
18	6301961	A	C	18	6301962	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.267944828909803	0.378
18	6301961	A	G	18	6301962	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00106555661468046	0.122
18	6301961	A	T	18	6301962	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.285650476689281	0.374
18	6301962	A	C	18	6301963	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999783138310924	0.946
18	6301962	A	G	18	6301963	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.08917464181638E-5	0.004
18	6301962	A	T	18	6301963	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.109824956621787	0.456
18	6301963	T	A	18	6301964	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.5703381661739E-5	0.0
18	6301963	T	C	18	6301964	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.13829272543344E-5	0.008
18	6301963	T	G	18	6301964	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.55429162330131E-5	0.01
18	6301964	A	C	18	6301965	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.253791574779006	0.366
18	6301964	A	G	18	6301965	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.35081538142025E-4	0.044
18	6301964	A	T	18	6301965	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.740272683305447	0.378
18	6301965	C	A	18	6301966	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.73461788895181E-5	0.0
18	6301965	C	G	18	6301966	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.25159612232397E-5	0.0
18	6301965	C	T	18	6301966	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.74294155725007E-5	0.01
18	6301966	A	C	18	6301967	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.828067534639555	0.542
18	6301966	A	G	18	6301967	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.86394366549753E-4	0.046
18	6301966	A	T	18	6301967	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999968843852553	0.982
18	6301967	G	A	18	6301968	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.59299244381415E-5	0.022
18	6301967	G	C	18	6301968	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.02795867134251E-5	0.0
18	6301967	G	T	18	6301968	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.10637357097541E-4	0.016
18	6301968	A	C	18	6301969	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.197925250254166	0.436
18	6301968	A	G	18	6301969	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.71723000900281E-4	0.004
18	6301968	A	T	18	6301969	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.172198929775018	0.434
18	6311545	C	A	18	6311546	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.48460048036813E-5	0.0
18	6311545	C	G	18	6311546	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.74811729605095E-5	0.0
18	6311545	C	T	18	6311546	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.79641626898212E-5	0.0
18	6311546	A	C	18	6311547	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.31447682094631E-5	0.0
18	6311546	A	G	18	6311547	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.31447682094631E-5	0.0
18	6311546	A	T	18	6311547	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.31447682094631E-5	0.0
18	6311547	T	A	18	6311548	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.33492756767665E-5	0.01
18	6311547	T	C	18	6311548	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.76649498757072E-5	0.0
18	6311547	T	G	18	6311548	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.88798839291737E-5	0.008
18	6311548	C	A	18	6311549	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999752819349906	0.912
18	6311548	C	G	18	6311549	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999991660841621	0.932
18	6311548	C	T	18	6311549	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999884826264016	0.9
18	6311549	T	A	18	6311550	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.910906827123614	0.742
18	6311549	T	C	18	6311550	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.958397177962264	0.714
18	6311549	T	G	18	6311550	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.819655769754341	0.718
18	6311550	T	A	18	6311551	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999332243755405	0.868
18	6311550	T	C	18	6311551	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0189514335425832	0.232
18	6311550	T	G	18	6311551	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999608278319245	0.88
18	6311551	A	C	18	6311552	y	y	splicing	L3MBTL4(NM_173464:exon4:c.72+2T>G)	.	.	splicing	ENSG00000154655(ENST00000317931:exon4:c.72+2T>G;ENST00000400105:exon4:c.72+2T>G;ENST00000284898:exon4:c.72+2T>G;ENST00000400104:exon4:c.72+2T>G;ENST00000583054:exon4:c.72+2T>G;ENST00000583809:exon4:c.72+2T>G;ENST00000581231:exon4:c.72+2T>G)	.	.	0.999972155025474	0.87
18	6311551	A	G	18	6311552	y	y	splicing	L3MBTL4(NM_173464:exon4:c.72+2T>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon4:c.72+2T>C;ENST00000400105:exon4:c.72+2T>C;ENST00000284898:exon4:c.72+2T>C;ENST00000400104:exon4:c.72+2T>C;ENST00000583054:exon4:c.72+2T>C;ENST00000583809:exon4:c.72+2T>C;ENST00000581231:exon4:c.72+2T>C)	.	.	0.999761133541448	0.826
18	6311551	A	T	18	6311552	y	y	splicing	L3MBTL4(NM_173464:exon4:c.72+2T>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon4:c.72+2T>A;ENST00000400105:exon4:c.72+2T>A;ENST00000284898:exon4:c.72+2T>A;ENST00000400104:exon4:c.72+2T>A;ENST00000583054:exon4:c.72+2T>A;ENST00000583809:exon4:c.72+2T>A;ENST00000581231:exon4:c.72+2T>A)	.	.	0.999982151912279	0.884
18	6311552	C	A	18	6311553	y	y	splicing	L3MBTL4(NM_173464:exon4:c.72+1G>T)	.	.	splicing	ENSG00000154655(ENST00000317931:exon4:c.72+1G>T;ENST00000400105:exon4:c.72+1G>T;ENST00000284898:exon4:c.72+1G>T;ENST00000400104:exon4:c.72+1G>T;ENST00000583054:exon4:c.72+1G>T;ENST00000583809:exon4:c.72+1G>T;ENST00000581231:exon4:c.72+1G>T)	.	.	0.999871855438874	0.796
18	6311552	C	G	18	6311553	y	y	splicing	L3MBTL4(NM_173464:exon4:c.72+1G>C)	.	.	splicing	ENSG00000154655(ENST00000317931:exon4:c.72+1G>C;ENST00000400105:exon4:c.72+1G>C;ENST00000284898:exon4:c.72+1G>C;ENST00000400104:exon4:c.72+1G>C;ENST00000583054:exon4:c.72+1G>C;ENST00000583809:exon4:c.72+1G>C;ENST00000581231:exon4:c.72+1G>C)	.	.	0.999871855438874	0.79
18	6311552	C	T	18	6311553	y	y	splicing	L3MBTL4(NM_173464:exon4:c.72+1G>A)	.	.	splicing	ENSG00000154655(ENST00000317931:exon4:c.72+1G>A;ENST00000400105:exon4:c.72+1G>A;ENST00000284898:exon4:c.72+1G>A;ENST00000400104:exon4:c.72+1G>A;ENST00000583054:exon4:c.72+1G>A;ENST00000583809:exon4:c.72+1G>A;ENST00000581231:exon4:c.72+1G>A)	.	.	0.999871855438874	0.792
18	6311553	C	A	18	6311554	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon3:c.G72T:p.L24F;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon3:c.G72T:p.L24F;ENSG00000154655:ENST00000400105:exon3:c.G72T:p.L24F;ENSG00000154655:ENST00000317931:exon3:c.G72T:p.L24F;ENSG00000154655:ENST00000581231:exon3:c.G72T:p.L24F;ENSG00000154655:ENST00000400104:exon3:c.G72T:p.L24F;ENSG00000154655:ENST00000284898:exon3:c.G72T:p.L24F;ENSG00000154655:ENST00000583054:exon3:c.G72T:p.L24F;	0.999389000074494	0.952
18	6311553	C	G	18	6311554	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon3:c.G72C:p.L24F;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon3:c.G72C:p.L24F;ENSG00000154655:ENST00000400105:exon3:c.G72C:p.L24F;ENSG00000154655:ENST00000317931:exon3:c.G72C:p.L24F;ENSG00000154655:ENST00000581231:exon3:c.G72C:p.L24F;ENSG00000154655:ENST00000400104:exon3:c.G72C:p.L24F;ENSG00000154655:ENST00000284898:exon3:c.G72C:p.L24F;ENSG00000154655:ENST00000583054:exon3:c.G72C:p.L24F;	0.99975619458576	0.842
18	6311553	C	T	18	6311554	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon3:c.G72A:p.L24L;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000583809:exon3:c.G72A:p.L24L;ENSG00000154655:ENST00000400105:exon3:c.G72A:p.L24L;ENSG00000154655:ENST00000317931:exon3:c.G72A:p.L24L;ENSG00000154655:ENST00000581231:exon3:c.G72A:p.L24L;ENSG00000154655:ENST00000400104:exon3:c.G72A:p.L24L;ENSG00000154655:ENST00000284898:exon3:c.G72A:p.L24L;ENSG00000154655:ENST00000583054:exon3:c.G72A:p.L24L;	0.999399839647636	0.94
18	6311554	A	C	18	6311555	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon3:c.T71G:p.L24W;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon3:c.T71G:p.L24W;ENSG00000154655:ENST00000400105:exon3:c.T71G:p.L24W;ENSG00000154655:ENST00000317931:exon3:c.T71G:p.L24W;ENSG00000154655:ENST00000581231:exon3:c.T71G:p.L24W;ENSG00000154655:ENST00000400104:exon3:c.T71G:p.L24W;ENSG00000154655:ENST00000284898:exon3:c.T71G:p.L24W;ENSG00000154655:ENST00000583054:exon3:c.T71G:p.L24W;	2.85448242393811E-4	0.042
18	6311554	A	G	18	6311555	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon3:c.T71C:p.L24S;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon3:c.T71C:p.L24S;ENSG00000154655:ENST00000400105:exon3:c.T71C:p.L24S;ENSG00000154655:ENST00000317931:exon3:c.T71C:p.L24S;ENSG00000154655:ENST00000581231:exon3:c.T71C:p.L24S;ENSG00000154655:ENST00000400104:exon3:c.T71C:p.L24S;ENSG00000154655:ENST00000284898:exon3:c.T71C:p.L24S;ENSG00000154655:ENST00000583054:exon3:c.T71C:p.L24S;	5.60926995890449E-4	0.024
18	6311554	A	T	18	6311555	y	y	exonic	L3MBTL4	stopgain SNV	L3MBTL4:NM_173464:exon3:c.T71A:p.L24X;	exonic	ENSG00000154655	stopgain SNV	ENSG00000154655:ENST00000583809:exon3:c.T71A:p.L24X;ENSG00000154655:ENST00000400105:exon3:c.T71A:p.L24X;ENSG00000154655:ENST00000317931:exon3:c.T71A:p.L24X;ENSG00000154655:ENST00000581231:exon3:c.T71A:p.L24X;ENSG00000154655:ENST00000400104:exon3:c.T71A:p.L24X;ENSG00000154655:ENST00000284898:exon3:c.T71A:p.L24X;ENSG00000154655:ENST00000583054:exon3:c.T71A:p.L24X;	0.00189083755106689	0.162
18	6311555	A	C	18	6311556	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon3:c.T70G:p.L24V;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon3:c.T70G:p.L24V;ENSG00000154655:ENST00000400105:exon3:c.T70G:p.L24V;ENSG00000154655:ENST00000317931:exon3:c.T70G:p.L24V;ENSG00000154655:ENST00000581231:exon3:c.T70G:p.L24V;ENSG00000154655:ENST00000400104:exon3:c.T70G:p.L24V;ENSG00000154655:ENST00000284898:exon3:c.T70G:p.L24V;ENSG00000154655:ENST00000583054:exon3:c.T70G:p.L24V;	5.06561435228226E-5	0.016
18	6311555	A	G	18	6311556	y	y	exonic	L3MBTL4	synonymous SNV	L3MBTL4:NM_173464:exon3:c.T70C:p.L24L;	exonic	ENSG00000154655	synonymous SNV	ENSG00000154655:ENST00000583809:exon3:c.T70C:p.L24L;ENSG00000154655:ENST00000400105:exon3:c.T70C:p.L24L;ENSG00000154655:ENST00000317931:exon3:c.T70C:p.L24L;ENSG00000154655:ENST00000581231:exon3:c.T70C:p.L24L;ENSG00000154655:ENST00000400104:exon3:c.T70C:p.L24L;ENSG00000154655:ENST00000284898:exon3:c.T70C:p.L24L;ENSG00000154655:ENST00000583054:exon3:c.T70C:p.L24L;	3.93641954410595E-5	0.0
18	6311555	A	T	18	6311556	y	y	exonic	L3MBTL4	nonsynonymous SNV	L3MBTL4:NM_173464:exon3:c.T70A:p.L24M;	exonic	ENSG00000154655	nonsynonymous SNV	ENSG00000154655:ENST00000583809:exon3:c.T70A:p.L24M;ENSG00000154655:ENST00000400105:exon3:c.T70A:p.L24M;ENSG00000154655:ENST00000317931:exon3:c.T70A:p.L24M;ENSG00000154655:ENST00000581231:exon3:c.T70A:p.L24M;ENSG00000154655:ENST00000400104:exon3:c.T70A:p.L24M;ENSG00000154655:ENST00000284898:exon3:c.T70A:p.L24M;ENSG00000154655:ENST00000583054:exon3:c.T70A:p.L24M;	2.04499888154402E-5	0.0
18	6311654	T	A	18	6311655	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.26468885856688E-5	0.0
18	6311654	T	C	18	6311655	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.10140767697143E-5	0.02
18	6311654	T	G	18	6311655	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	2.72222005659764E-5	0.0
18	6311655	T	A	18	6311656	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.00261672896730446	0.074
18	6311655	T	C	18	6311656	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.90722196277703E-4	0.0
18	6311655	T	G	18	6311656	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.00173977269703007	0.106
18	6311656	C	A	18	6311657	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999903269673453	0.73
18	6311656	C	G	18	6311657	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999903269673453	0.728
18	6311656	C	T	18	6311657	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999903269673453	0.734
18	6311657	T	A	18	6311658	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999980255680118	0.75
18	6311657	T	C	18	6311658	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999989378869813	0.756
18	6311657	T	G	18	6311658	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999989378869813	0.756
18	6311658	G	A	18	6311659	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00582547096435597	0.164
18	6311658	G	C	18	6311659	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999907638055899	0.906
18	6311658	G	T	18	6311659	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.990584945750944	0.802
18	6311659	T	A	18	6311660	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.78684935133503E-5	0.002
18	6311659	T	C	18	6311660	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.7820255444079E-4	0.028
18	6311659	T	G	18	6311660	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.59252178717286E-4	0.006
18	6311660	A	C	18	6311661	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.735468048976875	0.462
18	6311660	A	G	18	6311661	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0180961955293236	0.136
18	6311660	A	T	18	6311661	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.54202126662533	0.45
18	6311661	A	C	18	6311662	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.767393011276533	0.656
18	6311661	A	G	18	6311662	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.85480053994522E-5	0.002
18	6311661	A	T	18	6311662	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.767393011276533	0.67
18	6311662	A	C	18	6311663	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0171338281493991	0.148
18	6311662	A	G	18	6311663	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.08739760555757E-5	0.018
18	6311662	A	T	18	6311663	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0465036876308931	0.158
18	6311663	A	C	18	6311664	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.017186109080146	0.16
18	6311663	A	G	18	6311664	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.1427753987421E-5	0.002
18	6311663	A	T	18	6311664	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0756220454479478	0.154
18	6311664	C	A	18	6311665	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.62971926835447E-5	0.0
18	6311664	C	G	18	6311665	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.95054575835449E-5	0.006
18	6311664	C	T	18	6311665	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.4291453738588E-5	0.004
18	6311665	A	C	18	6311666	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.501997242186401	0.52
18	6311665	A	G	18	6311666	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.67305808092898E-4	0.062
18	6311665	A	T	18	6311666	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999967950622661	0.972
18	6311666	G	A	18	6311667	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.34081165481663E-4	0.0
18	6311666	G	C	18	6311667	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.14626854612789E-4	0.076
18	6311666	G	T	18	6311667	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00654224757760329	0.086
18	6311667	G	A	18	6311668	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.66934666133936E-5	0.0
18	6311667	G	C	18	6311668	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.40525701003742E-5	0.028
18	6311667	G	T	18	6311668	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.10573842957154E-4	0.024
18	6311989	G	A	18	6311990	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.07014835428848E-5	0.0
18	6311989	G	C	18	6311990	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.69168927045529E-5	0.0
18	6311989	G	T	18	6311990	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.08454055578116E-4	0.0
18	6311990	T	A	18	6311991	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00132483312067743	0.012
18	6311990	T	C	18	6311991	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00117326142021955	0.024
18	6311990	T	G	18	6311991	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00123811915483717	0.02
18	6311991	A	C	18	6311992	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.303226517811717	0.474
18	6311991	A	G	18	6311992	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.746962355975168	0.56
18	6311991	A	T	18	6311992	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.931895638923076	0.642
18	6311992	C	A	18	6311993	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999973798382213	0.976
18	6311992	C	G	18	6311993	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.99979927188135	0.876
18	6311992	C	T	18	6311993	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999910279610252	0.934
18	6311993	T	A	18	6311994	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.995413485236257	0.652
18	6311993	T	C	18	6311994	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.966725773632231	0.692
18	6311993	T	G	18	6311994	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.645576510615898	0.558
18	6311994	C	A	18	6311995	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.986381443827495	0.492
18	6311994	C	G	18	6311995	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.987997882733744	0.58
18	6311994	C	T	18	6311995	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.44637983762684E-5	0.0
18	6311995	A	C	18	6311996	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999966514958823	0.938
18	6311995	A	G	18	6311996	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999826379636187	0.894
18	6311995	A	T	18	6311996	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999966514958823	0.946
18	6311996	C	A	18	6311997	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999938990645747	0.92
18	6311996	C	G	18	6311997	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999938990645747	0.944
18	6311996	C	T	18	6311997	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999938990645747	0.95
18	6311997	A	C	18	6311998	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	2.32976513015362E-4	0.122
18	6311997	A	G	18	6311998	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	2.66971431911129E-4	0.008
18	6311997	A	T	18	6311998	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.18047906762153E-4	0.004
18	6311998	T	A	18	6311999	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.142317005266678	0.544
18	6311998	T	C	18	6311999	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.0656764715697988	0.396
18	6311998	T	G	18	6311999	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.110522174396949	0.5
18	6311999	G	A	18	6312000	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.0578303250263517	0.332
18	6311999	G	C	18	6312000	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.05974838809404E-4	0.014
18	6311999	G	T	18	6312000	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	9.31431649318061E-5	0.014
18	6312054	A	C	18	6312055	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	6.66381111550434E-4	0.02
18	6312054	A	G	18	6312055	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	5.50093158100665E-4	0.018
18	6312054	A	T	18	6312055	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.85412717861566E-4	0.002
18	6312055	T	A	18	6312056	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.00991016782872982	0.11
18	6312055	T	C	18	6312056	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.00138006060028078	0.034
18	6312055	T	G	18	6312056	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.00641055789902637	0.122
18	6312056	C	A	18	6312057	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.99994568797423	0.932
18	6312056	C	G	18	6312057	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.99994568797423	0.934
18	6312056	C	T	18	6312057	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999978952611685	0.932
18	6312057	T	A	18	6312058	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999960807249974	0.938
18	6312057	T	C	18	6312058	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999961168610083	0.938
18	6312057	T	G	18	6312058	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999961168610083	0.938
18	6312058	G	A	18	6312059	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00123453223471949	0.044
18	6312058	G	C	18	6312059	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.988897449993385	0.912
18	6312058	G	T	18	6312059	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.405634004679244	0.452
18	6312059	A	C	18	6312060	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.40987395642679E-4	0.0
18	6312059	A	G	18	6312060	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.72530558402827E-5	0.0
18	6312059	A	T	18	6312060	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.36225410047461E-5	0.0
18	6312060	A	C	18	6312061	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.732815048139504	0.502
18	6312060	A	G	18	6312061	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00334007597577314	0.158
18	6312060	A	T	18	6312061	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.894271402276779	0.518
18	6312061	A	C	18	6312062	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.220841321744375	0.32
18	6312061	A	G	18	6312062	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00101286108642957	0.07
18	6312061	A	T	18	6312062	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.176062130003743	0.268
18	6312062	C	A	18	6312063	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.87104427432258E-5	0.0
18	6312062	C	G	18	6312063	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.06980477369806E-4	0.0
18	6312062	C	T	18	6312063	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.3694020346055E-4	0.002
18	6312063	A	C	18	6312064	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.314079397002383	0.31
18	6312063	A	G	18	6312064	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00149540630201716	0.04
18	6312063	A	T	18	6312064	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.999741831991896	0.944
18	6312064	G	A	18	6312065	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.10494596341485E-4	0.016
18	6312064	G	C	18	6312065	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.03461574421174E-4	0.05
18	6312064	G	T	18	6312065	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00301440620430136	0.092
18	6312065	A	C	18	6312066	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.588153090630737	0.638
18	6312065	A	G	18	6312066	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00181225203561023	0.05
18	6312065	A	T	18	6312066	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.748258578681536	0.646
18	6312066	A	C	18	6312067	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0401467340178887	0.458
18	6312066	A	G	18	6312067	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.55328766424921E-4	0.066
18	6312066	A	T	18	6312067	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.265706535389844	0.484
18	6312067	A	C	18	6312068	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0071650076331168	0.214
18	6312067	A	G	18	6312068	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	9.9166428075145E-5	0.008
18	6312067	A	T	18	6312068	y	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.0100865057828959	0.236
18	6326427	T	A	18	6326428	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.48940198135627E-4	0.054
18	6326427	T	C	18	6326428	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.48940198135627E-4	0.048
18	6326427	T	G	18	6326428	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.48940198135627E-4	0.046
18	6326428	A	C	18	6326429	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.80465223468383E-5	0.004
18	6326428	A	G	18	6326429	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.80465223468383E-5	0.006
18	6326428	A	T	18	6326429	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.80465223468383E-5	0.004
18	6326429	A	C	18	6326430	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.07620641825897E-5	0.0
18	6326429	A	G	18	6326430	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.07620641825897E-5	0.0
18	6326429	A	T	18	6326430	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.07620641825897E-5	0.0
18	6326430	T	A	18	6326431	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.29172098833992E-5	0.004
18	6326430	T	C	18	6326431	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.29172098833992E-5	0.004
18	6326430	T	G	18	6326431	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.29172098833992E-5	0.004
18	6326431	T	A	18	6326432	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.30119771384439E-5	0.006
18	6326431	T	C	18	6326432	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.05943593696535E-5	0.006
18	6326431	T	G	18	6326432	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.05943593696535E-5	0.006
18	6326432	T	A	18	6326433	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.80465223468383E-5	0.0
18	6326432	T	C	18	6326433	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.4631346304159E-5	0.0
18	6326432	T	G	18	6326433	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.4631346304159E-5	0.0
18	6326433	A	C	18	6326434	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	2.13105871323179E-5	0.004
18	6326433	A	G	18	6326434	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	2.13105871323179E-5	0.004
18	6326433	A	T	18	6326434	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	3.29172098833992E-5	0.004
18	6326434	C	A	18	6326435	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	2.45277156108894E-5	0.002
18	6326434	C	G	18	6326435	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	2.45277156108894E-5	0.002
18	6326434	C	T	18	6326435	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	2.45277156108894E-5	0.002
18	6326435	C	A	18	6326436	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.04661109736481E-4	0.058
18	6326435	C	G	18	6326436	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	4.40944182911217E-5	0.058
18	6326435	C	T	18	6326436	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.04661109736481E-4	0.066
18	6326436	T	A	18	6326437	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.54202640757507E-4	0.024
18	6326436	T	C	18	6326437	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.54202640757507E-4	0.042
18	6326436	T	G	18	6326437	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.54202640757507E-4	0.04
18	6326437	G	A	18	6326438	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.07620641825897E-5	0.0
18	6326437	G	C	18	6326438	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.07620641825897E-5	0.0
18	6326437	G	T	18	6326438	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.07620641825897E-5	0.0
18	6367605	C	A	18	6367606	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.05606112543448E-5	0.004
18	6367605	C	G	18	6367606	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.6857887130806E-5	0.004
18	6367605	C	T	18	6367606	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.05606112543448E-5	0.008
18	6367606	C	A	18	6367607	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.88563338073588E-5	0.002
18	6367606	C	G	18	6367607	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.88563338073588E-5	0.002
18	6367606	C	T	18	6367607	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.88563338073588E-5	0.002
18	6367607	C	A	18	6367608	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.59435642788644E-4	0.004
18	6367607	C	G	18	6367608	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	4.09469023002838E-4	0.004
18	6367607	C	T	18	6367608	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.59435642788644E-4	0.004
18	6367608	T	A	18	6367609	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00131227968434435	0.01
18	6367608	T	C	18	6367609	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00163920954224159	0.01
18	6367608	T	G	18	6367609	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	0.00131227968434435	0.01
18	6367609	T	A	18	6367610	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.86764315709017E-5	0.0
18	6367609	T	C	18	6367610	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.39457982047225E-5	0.0
18	6367609	T	G	18	6367610	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	3.39457982047225E-5	0.0
18	6367610	T	A	18	6367611	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.25524929795369E-5	0.0
18	6367610	T	C	18	6367611	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.25524929795369E-5	0.0
18	6367610	T	G	18	6367611	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.25524929795369E-5	0.0
18	6367611	A	C	18	6367612	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	1.79241998349178E-5	0.008
18	6367611	A	G	18	6367612	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	1.79241998349178E-5	0.012
18	6367611	A	T	18	6367612	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	1.88014054966508E-5	0.0
18	6367612	C	A	18	6367613	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	3.35115461238441E-4	0.002
18	6367612	C	G	18	6367613	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	1.80650664972837E-4	0.002
18	6367612	C	T	18	6367613	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	3.35115461238441E-4	0.002
18	6367613	C	A	18	6367614	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	5.58469164784009E-5	0.002
18	6367613	C	G	18	6367614	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.88563338073588E-5	0.002
18	6367613	C	T	18	6367614	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	6.5908222467397E-5	0.002
18	6367614	A	C	18	6367615	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	9.40094287361931E-5	0.0
18	6367614	A	G	18	6367615	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	9.40094287361931E-5	0.0
18	6367614	A	T	18	6367615	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.53906294760088E-4	0.002
18	6367615	G	A	18	6367616	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	6.5908222467397E-5	0.002
18	6367615	G	C	18	6367616	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.88563338073588E-5	0.002
18	6367615	G	T	18	6367616	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	5.58469164784009E-5	0.002
18	6414699	C	A	18	6414700	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.3330395574997E-5	0.0
18	6414699	C	G	18	6414700	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.3330395574997E-5	0.0
18	6414699	C	T	18	6414700	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	5.3330395574997E-5	0.0
18	6414700	C	A	18	6414701	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.02049453228261E-4	0.01
18	6414700	C	G	18	6414701	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	6.94545935591282E-4	0.01
18	6414700	C	T	18	6414701	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.23336203135875E-4	0.008
18	6414701	C	A	18	6414702	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	7.02620256074152E-5	0.0
18	6414701	C	G	18	6414702	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.3079806625321E-4	0.0
18	6414701	C	T	18	6414702	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.25418891334787E-4	0.004
18	6414702	T	A	18	6414703	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.09970395940477E-4	0.012
18	6414702	T	C	18	6414703	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.99675985096977E-4	0.01
18	6414702	T	G	18	6414703	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	2.99675985096977E-4	0.002
18	6414703	C	A	18	6414704	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.65132028421976E-5	0.002
18	6414703	C	G	18	6414704	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.65132028421976E-5	0.002
18	6414703	C	T	18	6414704	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	8.65132028421976E-5	0.002
18	6414704	T	A	18	6414705	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.98784870003065E-4	0.032
18	6414704	T	C	18	6414705	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.41795582985821E-4	0.018
18	6414704	T	G	18	6414705	n	y	intronic	L3MBTL4	.	.	intronic	ENSG00000154655	.	.	1.41795582985821E-4	0.018
18	6414705	A	C	18	6414706	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	6.80639203006162E-5	0.0
18	6414705	A	G	18	6414706	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	6.80639203006162E-5	0.0
18	6414705	A	T	18	6414706	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	6.80639203006162E-5	0.0
18	6414706	C	A	18	6414707	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	1.0448865492497E-4	0.006
18	6414706	C	G	18	6414707	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	8.97988704700614E-5	0.0
18	6414706	C	T	18	6414707	n	y	intronic	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	1.02725353898919E-4	0.0
18	6414707	C	A	18	6414708	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.1856082495136E-4	0.008
18	6414707	C	G	18	6414708	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.01596062267243E-4	0.0
18	6414707	C	T	18	6414708	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.1856082495136E-4	0.006
18	6414708	T	A	18	6414709	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	4.55443169514824E-5	0.0
18	6414708	T	C	18	6414709	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	4.21649339220785E-5	0.0
18	6414708	T	G	18	6414709	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	4.21649339220785E-5	0.0
18	6414709	G	A	18	6414710	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.20024095316442E-4	0.004
18	6414709	G	C	18	6414710	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.7550126206166E-4	0.012
18	6414709	G	T	18	6414710	n	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.20024095316442E-4	0.0
18	6414792	C	A	18	6414793	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.00015911824063E-4	0.0
18	6414792	C	G	18	6414793	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	2.37432025496364E-5	0.0
18	6414792	C	T	18	6414793	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	3.00015911824063E-4	0.0
18	6414793	T	A	18	6414794	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.00237414126962372	0.17
18	6414793	T	C	18	6414794	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	4.44782547612922E-4	0.008
18	6414793	T	G	18	6414794	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.16122161420156E-4	0.006
18	6414794	T	A	18	6414795	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.44523772761253E-4	0.018
18	6414794	T	C	18	6414795	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.10897658296752E-4	0.006
18	6414794	T	G	18	6414795	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	2.02486068223182E-4	0.02
18	6414795	C	A	18	6414796	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.999755719059628	0.868
18	6414795	C	G	18	6414796	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.999794568471904	0.912
18	6414795	C	T	18	6414796	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.999923746721865	0.966
18	6414796	T	A	18	6414797	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.877810512464883	0.612
18	6414796	T	C	18	6414797	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.96357556654132	0.63
18	6414796	T	G	18	6414797	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.899732016916005	0.608
18	6414797	T	A	18	6414798	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.999464187843055	0.878
18	6414797	T	C	18	6414798	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.550863118075138	0.466
18	6414797	T	G	18	6414798	y	y	intronic	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.999582346640293	0.9
18	6414798	A	C	18	6414799	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.99996947969426	0.772
18	6414798	A	G	18	6414799	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.999761316041209	0.702
18	6414798	A	T	18	6414799	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.99996947969426	0.77
18	6414799	C	A	18	6414800	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.99954425114967	0.612
18	6414799	C	G	18	6414800	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.99954425114967	0.606
18	6414799	C	T	18	6414800	y	y	splicing	L3MBTL4	.	.	splicing	ENSG00000154655	.	.	0.99954425114967	0.614
18	6414800	C	A	18	6414801	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.989563517203539	0.866
18	6414800	C	G	18	6414801	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.996522413665073	0.81
18	6414800	C	T	18	6414801	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.992523343287408	0.828
18	6414801	C	A	18	6414802	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.0024489385805656	0.012
18	6414801	C	G	18	6414802	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.00693896405962654	0.07
18	6414801	C	T	18	6414802	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	0.00452934920119145	0.114
18	6414802	C	A	18	6414803	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	1.50130676242557E-4	0.008
18	6414802	C	G	18	6414803	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	6.15656728266862E-5	0.006
18	6414802	C	T	18	6414803	y	y	UTR5	L3MBTL4	.	.	UTR5	ENSG00000154655	.	.	8.15974511771464E-5	0.002
18	6834536	A	C	18	6834537	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	1.8440140546657E-5	0.0
18	6834536	A	G	18	6834537	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	3.23971594541671E-5	0.0
18	6834536	A	T	18	6834537	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.0306984776973294	0.24
18	6834537	A	C	18	6834538	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.410499020221068	0.584
18	6834537	A	G	18	6834538	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.137422887018571	0.486
18	6834537	A	T	18	6834538	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.30569202534442	0.59
18	6834538	T	A	18	6834539	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	1.74140896057294E-5	0.008
18	6834538	T	C	18	6834539	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	2.66719521520724E-5	0.008
18	6834538	T	G	18	6834539	y	y	UTR5	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	5.4382200301161E-5	0.094
18	6834539	G	A	18	6834540	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	0.999968768393571	0.674
18	6834539	G	C	18	6834540	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	0.999968768393571	0.66
18	6834539	G	T	18	6834540	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	0.999968768393571	0.674
18	6834540	T	A	18	6834541	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	0.99986575855458	0.542
18	6834540	T	C	18	6834541	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	0.335622794480229	0.486
18	6834540	T	G	18	6834541	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	0.99986575855458	0.534
18	6834541	A	C	18	6834542	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999433386775981	0.754
18	6834541	A	G	18	6834542	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.28718060399583E-4	0.118
18	6834541	A	T	18	6834542	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999433386775981	0.766
18	6834542	A	C	18	6834543	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.71438900280025	0.548
18	6834542	A	G	18	6834543	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.972202116514667	0.606
18	6834542	A	T	18	6834543	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.899631604011828	0.594
18	6834543	G	A	18	6834544	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999981538511882	0.89
18	6834543	G	C	18	6834544	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999378364339509	0.596
18	6834543	G	T	18	6834544	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999969856730911	0.912
18	6834544	C	A	18	6834545	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00113913907461507	0.03
18	6834544	C	G	18	6834545	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.18546546805673E-4	0.02
18	6834544	C	T	18	6834545	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.96607774540157E-4	0.072
18	6834545	C	A	18	6834546	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.05731866030037E-5	0.0
18	6834545	C	G	18	6834546	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.63599189950674E-4	0.0
18	6834545	C	T	18	6834546	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.75885263492546E-4	0.01
18	6834546	G	A	18	6834547	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.11696282627711E-4	0.004
18	6834546	G	C	18	6834547	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.28782214463755E-4	0.008
18	6834546	G	T	18	6834547	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.34050147365E-4	0.004
18	6836085	T	A	18	6836086	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.58927937202005E-5	0.006
18	6836085	T	C	18	6836086	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.58927937202005E-5	0.022
18	6836085	T	G	18	6836086	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.58927937202005E-5	0.008
18	6836086	C	A	18	6836087	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.66337069666832E-5	0.034
18	6836086	C	G	18	6836087	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.66337069666832E-5	0.034
18	6836086	C	T	18	6836087	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.66337069666832E-5	0.034
18	6836087	C	A	18	6836088	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.4720228130805E-5	0.032
18	6836087	C	G	18	6836088	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.4720228130805E-5	0.032
18	6836087	C	T	18	6836088	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.4720228130805E-5	0.032
18	6836088	C	A	18	6836089	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.45277156108894E-5	0.002
18	6836088	C	G	18	6836089	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.45277156108894E-5	0.002
18	6836088	C	T	18	6836089	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.45277156108894E-5	0.002
18	6836089	T	A	18	6836090	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.58927937202005E-5	0.006
18	6836089	T	C	18	6836090	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.58927937202005E-5	0.006
18	6836089	T	G	18	6836090	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.58927937202005E-5	0.006
18	6836090	C	A	18	6836091	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.61950794452343E-5	0.002
18	6836090	C	G	18	6836091	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.61950794452343E-5	0.002
18	6836090	C	T	18	6836091	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.61950794452343E-5	0.002
18	6836091	T	A	18	6836092	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.25587194415349E-5	0.01
18	6836091	T	C	18	6836092	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.21426686902123E-5	0.004
18	6836091	T	G	18	6836092	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.21426686902123E-5	0.006
18	6836092	T	A	18	6836093	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.07620641825897E-5	0.0
18	6836092	T	C	18	6836093	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.99153316237132E-5	0.0
18	6836092	T	G	18	6836093	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.99153316237132E-5	0.0
18	6836093	A	C	18	6836094	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.46004206284423E-5	0.0
18	6836093	A	G	18	6836094	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.46004206284423E-5	0.0
18	6836093	A	T	18	6836094	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.46004206284423E-5	0.0
18	6836094	C	A	18	6836095	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.45277156108894E-5	0.0
18	6836094	C	G	18	6836095	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.45277156108894E-5	0.0
18	6836094	C	T	18	6836095	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.45277156108894E-5	0.0
18	6836095	A	C	18	6836096	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	1.58927937202005E-5	0.006
18	6836095	A	G	18	6836096	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	1.58927937202005E-5	0.006
18	6836095	A	T	18	6836096	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	1.71486889510802E-5	0.006
18	6836096	G	A	18	6836097	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	8.59124223434785E-5	0.014
18	6836096	G	C	18	6836097	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	3.61950794452343E-5	0.008
18	6836096	G	T	18	6836097	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	7.54008979229845E-5	0.014
18	6836097	G	A	18	6836098	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	1.01559384236425E-5	0.004
18	6836097	G	C	18	6836098	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	9.41215694109E-6	0.0
18	6836097	G	T	18	6836098	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	1.01559384236425E-5	0.0
18	6836098	A	C	18	6836099	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	4.57607375837078E-5	0.01
18	6836098	A	G	18	6836099	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	4.57607375837078E-5	0.01
18	6836098	A	T	18	6836099	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	3.42206730061288E-5	0.012
18	6836172	C	A	18	6836173	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.0010327499008663	0.002
18	6836172	C	G	18	6836173	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.00100487064843151	0.002
18	6836172	C	T	18	6836173	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.0010327499008663	0.002
18	6836173	A	C	18	6836174	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.00115128744468825	0.0
18	6836173	A	G	18	6836174	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.00115128744468825	0.0
18	6836173	A	T	18	6836174	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.00115128744468825	0.0
18	6836174	G	A	18	6836175	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.0010327499008663	0.002
18	6836174	G	C	18	6836175	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.00100487064843151	0.002
18	6836174	G	T	18	6836175	n	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.0010327499008663	0.002
18	6836175	G	A	18	6836176	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	7.96107735223624E-4	0.018
18	6836175	G	C	18	6836176	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	2.58457018836086E-4	0.002
18	6836175	G	T	18	6836176	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	5.17967609321487E-4	0.006
18	6836176	T	A	18	6836177	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	2.45323994373696E-4	0.002
18	6836176	T	C	18	6836177	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	1.53434272246821E-4	0.002
18	6836176	T	G	18	6836177	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756	.	.	1.53434272246821E-4	0.002
18	6836177	G	A	18	6836178	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.2872901672339E-4	0.004
18	6836177	G	C	18	6836178	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.34434630829204E-4	0.018
18	6836177	G	T	18	6836178	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.34434630829204E-4	0.024
18	6836178	A	C	18	6836179	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.32090495008031E-4	0.004
18	6836178	A	G	18	6836179	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.32090495008031E-4	0.004
18	6836178	A	T	18	6836179	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.60188305108831E-4	0.0
18	6836179	G	A	18	6836180	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.30819145506541E-4	0.002
18	6836179	G	C	18	6836180	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.91285012458584E-4	0.004
18	6836179	G	T	18	6836180	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.91285012458584E-4	0.024
18	6836180	A	C	18	6836181	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.71279862688243E-5	0.002
18	6836180	A	G	18	6836181	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.71279862688243E-5	0.002
18	6836180	A	T	18	6836181	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.02110355052317E-5	0.002
18	6836181	C	A	18	6836182	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.16811292047004E-4	0.03
18	6836181	C	G	18	6836182	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.16811292047004E-4	0.012
18	6836181	C	T	18	6836182	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.07282077208958E-4	0.008
18	6836182	A	C	18	6836183	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.60641605274243E-4	0.02
18	6836182	A	G	18	6836183	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.60641605274243E-4	0.022
18	6836182	A	T	18	6836183	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.63770597332641E-4	0.032
18	6837184	G	A	18	6837185	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.60843615345746E-4	0.066
18	6837184	G	C	18	6837185	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.49691495874661E-4	0.02
18	6837184	G	T	18	6837185	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.759146971064E-4	0.08
18	6837185	T	A	18	6837186	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.995483722079975	0.87
18	6837185	T	C	18	6837186	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.514971751717582	0.576
18	6837185	T	G	18	6837186	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.992448908425238	0.836
18	6837186	T	A	18	6837187	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.971468814225234	0.67
18	6837186	T	C	18	6837187	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0067279598684184	0.052
18	6837186	T	G	18	6837187	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.89751459453102	0.598
18	6837187	C	A	18	6837188	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.11193971952668E-4	0.086
18	6837187	C	G	18	6837188	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.01953713603617E-5	0.062
18	6837187	C	T	18	6837188	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.30001860487895E-5	0.048
18	6837188	T	A	18	6837189	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.959703282075088	0.596
18	6837188	T	C	18	6837189	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00211811402193416	0.042
18	6837188	T	G	18	6837189	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.605078229682827	0.354
18	6837189	T	A	18	6837190	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0363339276010061	0.184
18	6837189	T	C	18	6837190	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.20351942855924E-5	0.064
18	6837189	T	G	18	6837190	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00414431809900565	0.088
18	6837190	T	A	18	6837191	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.984291516235713	0.846
18	6837190	T	C	18	6837191	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00178809092902603	0.082
18	6837190	T	G	18	6837191	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.987232774509503	0.864
18	6837191	C	A	18	6837192	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.03194750647644E-4	0.074
18	6837191	C	G	18	6837192	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00245950927076509	0.094
18	6837191	C	T	18	6837192	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.88215698276481E-5	0.0
18	6837192	A	C	18	6837193	y	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	1.36267554178491E-4	0.072
18	6837192	A	G	18	6837193	y	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	1.64153908550086E-4	0.082
18	6837192	A	T	18	6837193	y	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	8.71146121808213E-4	0.038
18	6837193	C	A	18	6837194	y	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.992999859648321	0.852
18	6837193	C	G	18	6837194	y	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.999916783722543	0.956
18	6837193	C	T	18	6837194	y	y	intronic	ARHGAP28	.	.	UTR5	ENSG00000088756	.	.	0.0261341864412465	0.15
18	6837194	A	C	18	6837195	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.326-2A>C;ENST00000400091:exon3:c.326-2A>C;ENST00000532723:exon4:c.170-2A>C;ENST00000262227:exon3:c.170-2A>C)	.	.	0.999988247793601	0.928
18	6837194	A	G	18	6837195	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.326-2A>G;ENST00000400091:exon3:c.326-2A>G;ENST00000532723:exon4:c.170-2A>G;ENST00000262227:exon3:c.170-2A>G)	.	.	0.999988247793601	0.928
18	6837194	A	T	18	6837195	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.326-2A>T;ENST00000400091:exon3:c.326-2A>T;ENST00000532723:exon4:c.170-2A>T;ENST00000262227:exon3:c.170-2A>T)	.	.	0.999988247793601	0.928
18	6837195	G	A	18	6837196	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.326-1G>A;ENST00000400091:exon3:c.326-1G>A;ENST00000532723:exon4:c.170-1G>A;ENST00000262227:exon3:c.170-1G>A)	.	.	0.999990361384395	0.936
18	6837195	G	C	18	6837196	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.326-1G>C;ENST00000400091:exon3:c.326-1G>C;ENST00000532723:exon4:c.170-1G>C;ENST00000262227:exon3:c.170-1G>C)	.	.	0.999990361384395	0.936
18	6837195	G	T	18	6837196	y	y	splicing	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.326-1G>T;ENST00000400091:exon3:c.326-1G>T;ENST00000532723:exon4:c.170-1G>T;ENST00000262227:exon3:c.170-1G>T)	.	.	0.999990361384395	0.936
18	6837196	A	C	18	6837197	y	y	UTR5	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon3:c.A170C:p.E57A;ENSG00000088756:ENST00000383472:exon3:c.A326C:p.E109A;ENSG00000088756:ENST00000532723:exon4:c.A170C:p.E57A;ENSG00000088756:ENST00000400091:exon3:c.A326C:p.E109A;	0.878992764142601	0.674
18	6837196	A	G	18	6837197	y	y	UTR5	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon3:c.A170G:p.E57G;ENSG00000088756:ENST00000383472:exon3:c.A326G:p.E109G;ENSG00000088756:ENST00000532723:exon4:c.A170G:p.E57G;ENSG00000088756:ENST00000400091:exon3:c.A326G:p.E109G;	0.723396275066965	0.712
18	6837196	A	T	18	6837197	y	y	UTR5	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon3:c.A170T:p.E57V;ENSG00000088756:ENST00000383472:exon3:c.A326T:p.E109V;ENSG00000088756:ENST00000532723:exon4:c.A170T:p.E57V;ENSG00000088756:ENST00000400091:exon3:c.A326T:p.E109V;	0.866441200730008	0.622
18	6837197	A	C	18	6837198	y	y	UTR5	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon3:c.A171C:p.E57D;ENSG00000088756:ENST00000383472:exon3:c.A327C:p.E109D;ENSG00000088756:ENST00000532723:exon4:c.A171C:p.E57D;ENSG00000088756:ENST00000400091:exon3:c.A327C:p.E109D;	5.95717992035654E-4	0.242
18	6837197	A	G	18	6837198	y	y	UTR5	ARHGAP28	.	.	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000262227:exon3:c.A171G:p.E57E;ENSG00000088756:ENST00000383472:exon3:c.A327G:p.E109E;ENSG00000088756:ENST00000532723:exon4:c.A171G:p.E57E;ENSG00000088756:ENST00000400091:exon3:c.A327G:p.E109E;	1.72136350910408E-4	0.068
18	6837197	A	T	18	6837198	y	y	UTR5	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon3:c.A171T:p.E57D;ENSG00000088756:ENST00000383472:exon3:c.A327T:p.E109D;ENSG00000088756:ENST00000532723:exon4:c.A171T:p.E57D;ENSG00000088756:ENST00000400091:exon3:c.A327T:p.E109D;	0.00101149887439418	0.324
18	6837411	C	A	18	6837412	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon2:c.C64A:p.P22T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.C64A:p.P22T;ENSG00000088756:ENST00000314319:exon1:c.C64A:p.P22T;ENSG00000088756:ENST00000262227:exon3:c.C385A:p.P129T;ENSG00000088756:ENST00000383472:exon3:c.C541A:p.P181T;ENSG00000088756:ENST00000531294:exon2:c.C64A:p.P22T;ENSG00000088756:ENST00000581099:exon3:c.C64A:p.P22T;ENSG00000088756:ENST00000584287:exon1:c.C64A:p.P22T;ENSG00000088756:ENST00000584387:exon3:c.C337A:p.P113T;ENSG00000088756:ENST00000577524:exon1:c.C64A:p.P22T;ENSG00000088756:ENST00000400091:exon3:c.C541A:p.P181T;ENSG00000088756:ENST00000418986:exon1:c.C64A:p.P22T;	0.00128741729528137	0.062
18	6837411	C	G	18	6837412	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon2:c.C64G:p.P22A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.C64G:p.P22A;ENSG00000088756:ENST00000314319:exon1:c.C64G:p.P22A;ENSG00000088756:ENST00000262227:exon3:c.C385G:p.P129A;ENSG00000088756:ENST00000383472:exon3:c.C541G:p.P181A;ENSG00000088756:ENST00000531294:exon2:c.C64G:p.P22A;ENSG00000088756:ENST00000581099:exon3:c.C64G:p.P22A;ENSG00000088756:ENST00000584287:exon1:c.C64G:p.P22A;ENSG00000088756:ENST00000584387:exon3:c.C337G:p.P113A;ENSG00000088756:ENST00000577524:exon1:c.C64G:p.P22A;ENSG00000088756:ENST00000400091:exon3:c.C541G:p.P181A;ENSG00000088756:ENST00000418986:exon1:c.C64G:p.P22A;	9.06220905943074E-4	0.04
18	6837411	C	T	18	6837412	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon2:c.C64T:p.P22S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.C64T:p.P22S;ENSG00000088756:ENST00000314319:exon1:c.C64T:p.P22S;ENSG00000088756:ENST00000262227:exon3:c.C385T:p.P129S;ENSG00000088756:ENST00000383472:exon3:c.C541T:p.P181S;ENSG00000088756:ENST00000531294:exon2:c.C64T:p.P22S;ENSG00000088756:ENST00000581099:exon3:c.C64T:p.P22S;ENSG00000088756:ENST00000584287:exon1:c.C64T:p.P22S;ENSG00000088756:ENST00000584387:exon3:c.C337T:p.P113S;ENSG00000088756:ENST00000577524:exon1:c.C64T:p.P22S;ENSG00000088756:ENST00000400091:exon3:c.C541T:p.P181S;ENSG00000088756:ENST00000418986:exon1:c.C64T:p.P22S;	0.00407472007478371	0.4
18	6837412	C	A	18	6837413	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon2:c.C65A:p.P22H;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.C65A:p.P22H;ENSG00000088756:ENST00000314319:exon1:c.C65A:p.P22H;ENSG00000088756:ENST00000262227:exon3:c.C386A:p.P129H;ENSG00000088756:ENST00000383472:exon3:c.C542A:p.P181H;ENSG00000088756:ENST00000531294:exon2:c.C65A:p.P22H;ENSG00000088756:ENST00000581099:exon3:c.C65A:p.P22H;ENSG00000088756:ENST00000584287:exon1:c.C65A:p.P22H;ENSG00000088756:ENST00000584387:exon3:c.C338A:p.P113H;ENSG00000088756:ENST00000577524:exon1:c.C65A:p.P22H;ENSG00000088756:ENST00000400091:exon3:c.C542A:p.P181H;ENSG00000088756:ENST00000418986:exon1:c.C65A:p.P22H;	0.410647283377278	0.53
18	6837412	C	G	18	6837413	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon2:c.C65G:p.P22R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.C65G:p.P22R;ENSG00000088756:ENST00000314319:exon1:c.C65G:p.P22R;ENSG00000088756:ENST00000262227:exon3:c.C386G:p.P129R;ENSG00000088756:ENST00000383472:exon3:c.C542G:p.P181R;ENSG00000088756:ENST00000531294:exon2:c.C65G:p.P22R;ENSG00000088756:ENST00000581099:exon3:c.C65G:p.P22R;ENSG00000088756:ENST00000584287:exon1:c.C65G:p.P22R;ENSG00000088756:ENST00000584387:exon3:c.C338G:p.P113R;ENSG00000088756:ENST00000577524:exon1:c.C65G:p.P22R;ENSG00000088756:ENST00000400091:exon3:c.C542G:p.P181R;ENSG00000088756:ENST00000418986:exon1:c.C65G:p.P22R;	0.589673355355416	0.622
18	6837412	C	T	18	6837413	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon2:c.C65T:p.P22L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.C65T:p.P22L;ENSG00000088756:ENST00000314319:exon1:c.C65T:p.P22L;ENSG00000088756:ENST00000262227:exon3:c.C386T:p.P129L;ENSG00000088756:ENST00000383472:exon3:c.C542T:p.P181L;ENSG00000088756:ENST00000531294:exon2:c.C65T:p.P22L;ENSG00000088756:ENST00000581099:exon3:c.C65T:p.P22L;ENSG00000088756:ENST00000584287:exon1:c.C65T:p.P22L;ENSG00000088756:ENST00000584387:exon3:c.C338T:p.P113L;ENSG00000088756:ENST00000577524:exon1:c.C65T:p.P22L;ENSG00000088756:ENST00000400091:exon3:c.C542T:p.P181L;ENSG00000088756:ENST00000418986:exon1:c.C65T:p.P22L;	0.0335041514173791	0.222
18	6837413	T	A	18	6837414	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon2:c.T66A:p.P22P;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.T66A:p.P22P;ENSG00000088756:ENST00000314319:exon1:c.T66A:p.P22P;ENSG00000088756:ENST00000262227:exon3:c.T387A:p.P129P;ENSG00000088756:ENST00000383472:exon3:c.T543A:p.P181P;ENSG00000088756:ENST00000531294:exon2:c.T66A:p.P22P;ENSG00000088756:ENST00000581099:exon3:c.T66A:p.P22P;ENSG00000088756:ENST00000584287:exon1:c.T66A:p.P22P;ENSG00000088756:ENST00000584387:exon3:c.T339A:p.P113P;ENSG00000088756:ENST00000577524:exon1:c.T66A:p.P22P;ENSG00000088756:ENST00000400091:exon3:c.T543A:p.P181P;ENSG00000088756:ENST00000418986:exon1:c.T66A:p.P22P;	2.55730036527993E-4	0.014
18	6837413	T	C	18	6837414	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon2:c.T66C:p.P22P;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.T66C:p.P22P;ENSG00000088756:ENST00000314319:exon1:c.T66C:p.P22P;ENSG00000088756:ENST00000262227:exon3:c.T387C:p.P129P;ENSG00000088756:ENST00000383472:exon3:c.T543C:p.P181P;ENSG00000088756:ENST00000531294:exon2:c.T66C:p.P22P;ENSG00000088756:ENST00000581099:exon3:c.T66C:p.P22P;ENSG00000088756:ENST00000584287:exon1:c.T66C:p.P22P;ENSG00000088756:ENST00000584387:exon3:c.T339C:p.P113P;ENSG00000088756:ENST00000577524:exon1:c.T66C:p.P22P;ENSG00000088756:ENST00000400091:exon3:c.T543C:p.P181P;ENSG00000088756:ENST00000418986:exon1:c.T66C:p.P22P;	0.00279128114976637	0.198
18	6837413	T	G	18	6837414	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon2:c.T66G:p.P22P;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon2:c.T66G:p.P22P;ENSG00000088756:ENST00000314319:exon1:c.T66G:p.P22P;ENSG00000088756:ENST00000262227:exon3:c.T387G:p.P129P;ENSG00000088756:ENST00000383472:exon3:c.T543G:p.P181P;ENSG00000088756:ENST00000531294:exon2:c.T66G:p.P22P;ENSG00000088756:ENST00000581099:exon3:c.T66G:p.P22P;ENSG00000088756:ENST00000584287:exon1:c.T66G:p.P22P;ENSG00000088756:ENST00000584387:exon3:c.T339G:p.P113P;ENSG00000088756:ENST00000577524:exon1:c.T66G:p.P22P;ENSG00000088756:ENST00000400091:exon3:c.T543G:p.P181P;ENSG00000088756:ENST00000418986:exon1:c.T66G:p.P22P;	4.3832903766928E-4	0.062
18	6837414	G	A	18	6837415	y	y	splicing	ARHGAP28(NM_001010000:exon2:c.66+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.543+1G>A;ENST00000400091:exon3:c.543+1G>A;ENST00000584387:exon3:c.339+1G>A;ENST00000262227:exon3:c.387+1G>A;ENST00000419673:exon2:c.66+1G>A;ENST00000581099:exon3:c.66+1G>A;ENST00000531294:exon2:c.66+1G>A;ENST00000418986:exon1:c.66+1G>A;ENST00000314319:exon1:c.66+1G>A;ENST00000577524:exon1:c.66+1G>A;ENST00000584287:exon1:c.66+1G>A)	.	.	0.999989072007339	0.932
18	6837414	G	C	18	6837415	y	y	splicing	ARHGAP28(NM_001010000:exon2:c.66+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.543+1G>C;ENST00000400091:exon3:c.543+1G>C;ENST00000584387:exon3:c.339+1G>C;ENST00000262227:exon3:c.387+1G>C;ENST00000419673:exon2:c.66+1G>C;ENST00000581099:exon3:c.66+1G>C;ENST00000531294:exon2:c.66+1G>C;ENST00000418986:exon1:c.66+1G>C;ENST00000314319:exon1:c.66+1G>C;ENST00000577524:exon1:c.66+1G>C;ENST00000584287:exon1:c.66+1G>C)	.	.	0.999989072007339	0.934
18	6837414	G	T	18	6837415	y	y	splicing	ARHGAP28(NM_001010000:exon2:c.66+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.543+1G>T;ENST00000400091:exon3:c.543+1G>T;ENST00000584387:exon3:c.339+1G>T;ENST00000262227:exon3:c.387+1G>T;ENST00000419673:exon2:c.66+1G>T;ENST00000581099:exon3:c.66+1G>T;ENST00000531294:exon2:c.66+1G>T;ENST00000418986:exon1:c.66+1G>T;ENST00000314319:exon1:c.66+1G>T;ENST00000577524:exon1:c.66+1G>T;ENST00000584287:exon1:c.66+1G>T)	.	.	0.999989072007339	0.922
18	6837415	T	A	18	6837416	y	y	splicing	ARHGAP28(NM_001010000:exon2:c.66+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.543+2T>A;ENST00000400091:exon3:c.543+2T>A;ENST00000584387:exon3:c.339+2T>A;ENST00000262227:exon3:c.387+2T>A;ENST00000419673:exon2:c.66+2T>A;ENST00000581099:exon3:c.66+2T>A;ENST00000531294:exon2:c.66+2T>A;ENST00000418986:exon1:c.66+2T>A;ENST00000314319:exon1:c.66+2T>A;ENST00000577524:exon1:c.66+2T>A;ENST00000584287:exon1:c.66+2T>A)	.	.	0.999988247793601	0.918
18	6837415	T	C	18	6837416	y	y	splicing	ARHGAP28(NM_001010000:exon2:c.66+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.543+2T>C;ENST00000400091:exon3:c.543+2T>C;ENST00000584387:exon3:c.339+2T>C;ENST00000262227:exon3:c.387+2T>C;ENST00000419673:exon2:c.66+2T>C;ENST00000581099:exon3:c.66+2T>C;ENST00000531294:exon2:c.66+2T>C;ENST00000418986:exon1:c.66+2T>C;ENST00000314319:exon1:c.66+2T>C;ENST00000577524:exon1:c.66+2T>C;ENST00000584287:exon1:c.66+2T>C)	.	.	0.991245725732999	0.686
18	6837415	T	G	18	6837416	y	y	splicing	ARHGAP28(NM_001010000:exon2:c.66+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon3:c.543+2T>G;ENST00000400091:exon3:c.543+2T>G;ENST00000584387:exon3:c.339+2T>G;ENST00000262227:exon3:c.387+2T>G;ENST00000419673:exon2:c.66+2T>G;ENST00000581099:exon3:c.66+2T>G;ENST00000531294:exon2:c.66+2T>G;ENST00000418986:exon1:c.66+2T>G;ENST00000314319:exon1:c.66+2T>G;ENST00000577524:exon1:c.66+2T>G;ENST00000584287:exon1:c.66+2T>G)	.	.	0.999988247793601	0.93
18	6837416	A	C	18	6837417	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999824173806357	0.93
18	6837416	A	G	18	6837417	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0517304452998506	0.262
18	6837416	A	T	18	6837417	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999849418327388	0.948
18	6837417	A	C	18	6837418	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.840159548784716	0.512
18	6837417	A	G	18	6837418	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.993450122277113	0.852
18	6837417	A	T	18	6837418	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.987351439116193	0.744
18	6837418	G	A	18	6837419	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999986183978554	0.996
18	6837418	G	C	18	6837419	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999995773357284	0.958
18	6837418	G	T	18	6837419	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999975938769582	0.956
18	6837419	T	A	18	6837420	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.992677364787122	0.708
18	6837419	T	C	18	6837420	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.980140078035552	0.856
18	6837419	T	G	18	6837420	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.993324810442983	0.878
18	6837420	A	C	18	6837421	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.76279280523903E-4	0.02
18	6837420	A	G	18	6837421	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.61324612504296E-4	0.02
18	6837420	A	T	18	6837421	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.61324612504296E-4	0.0
18	6837421	A	C	18	6837422	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.7381313684965E-4	0.01
18	6837421	A	G	18	6837422	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.60758400874948E-4	0.012
18	6837421	A	T	18	6837422	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.18869534754633E-4	0.004
18	6850873	T	A	18	6850874	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000532996:exon1:c.T10A:p.L4M;	1.84562490119969E-4	0.018
18	6850873	T	C	18	6850874	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000532996:exon1:c.T10C:p.L4L;	7.04278140930798E-5	0.004
18	6850873	T	G	18	6850874	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000532996:exon1:c.T10G:p.L4V;	1.22539223435578E-4	0.004
18	6850874	T	A	18	6850875	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000532996:exon1:c.T11A:p.L4X;	2.87971316337423E-4	0.158
18	6850874	T	C	18	6850875	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000532996:exon1:c.T11C:p.L4S;	3.09395893123295E-5	0.002
18	6850874	T	G	18	6850875	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000532996:exon1:c.T11G:p.L4W;	2.67199765429517E-4	0.002
18	6850875	G	A	18	6850876	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000532996:exon1:c.G12A:p.L4L;	0.00106284602294121	0.014
18	6850875	G	C	18	6850876	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000532996:exon1:c.G12C:p.L4F;	0.00106284602294121	0.014
18	6850875	G	T	18	6850876	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000532996:exon1:c.G12T:p.L4F;	0.00157203499164863	0.014
18	6850876	G	A	18	6850877	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000532996:exon1:c.12+1G>A)	.	.	5.65959444057763E-5	0.012
18	6850876	G	C	18	6850877	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000532996:exon1:c.12+1G>C)	.	.	5.65959444057763E-5	0.012
18	6850876	G	T	18	6850877	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000532996:exon1:c.12+1G>T)	.	.	5.65959444057763E-5	0.012
18	6850877	T	A	18	6850878	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000532996:exon1:c.12+2T>A)	.	.	6.89925739660516E-5	0.006
18	6850877	T	C	18	6850878	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000532996:exon1:c.12+2T>C)	.	.	6.89925739660516E-5	0.004
18	6850877	T	G	18	6850878	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000532996:exon1:c.12+2T>G)	.	.	6.89925739660516E-5	0.004
18	6850878	A	C	18	6850879	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.33815804894828E-5	0.0
18	6850878	A	G	18	6850879	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.33815804894828E-5	0.0
18	6850878	A	T	18	6850879	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.33815804894828E-5	0.0
18	6850879	A	C	18	6850880	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.84426259441964E-4	0.002
18	6850879	A	G	18	6850880	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.84426259441964E-4	0.002
18	6850879	A	T	18	6850880	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00110336656407202	0.006
18	6850880	G	A	18	6850881	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.69930370103191E-5	0.0
18	6850880	G	C	18	6850881	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.69930370103191E-5	0.0
18	6850880	G	T	18	6850881	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.69930370103191E-5	0.0
18	6850881	T	A	18	6850882	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.9469183429777E-5	0.0
18	6850881	T	C	18	6850882	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.9469183429777E-5	0.0
18	6850881	T	G	18	6850882	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.9469183429777E-5	0.0
18	6850882	G	A	18	6850883	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.33132576485227E-5	0.0
18	6850882	G	C	18	6850883	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.21557472225283E-5	0.0
18	6850882	G	T	18	6850883	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.21557472225283E-5	0.0
18	6850883	C	A	18	6850884	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.52881759733747E-5	0.0
18	6850883	C	G	18	6850884	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.52881759733747E-5	0.0
18	6850883	C	T	18	6850884	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.52881759733747E-5	0.0
18	6851021	T	A	18	6851022	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0107322424604653	0.252
18	6851021	T	C	18	6851022	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.39857540797399E-4	0.034
18	6851021	T	G	18	6851022	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0271236506119228	0.256
18	6851022	T	A	18	6851023	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.98764124449648	0.666
18	6851022	T	C	18	6851023	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.98008695956936E-4	0.198
18	6851022	T	G	18	6851023	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.948531203962759	0.592
18	6851023	C	A	18	6851024	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.2277911915792E-4	0.078
18	6851023	C	G	18	6851024	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.34585943857393E-4	0.056
18	6851023	C	T	18	6851024	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.83589425519341E-5	0.024
18	6851024	T	A	18	6851025	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.864080362034064	0.596
18	6851024	T	C	18	6851025	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.82716657515147E-5	0.026
18	6851024	T	G	18	6851025	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.027873347802577	0.402
18	6851025	T	A	18	6851026	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00155951050504126	0.264
18	6851025	T	C	18	6851026	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.01385479724819E-5	0.048
18	6851025	T	G	18	6851026	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.12627622889096E-4	0.25
18	6851026	C	A	18	6851027	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0188184699474154	0.17
18	6851026	C	G	18	6851027	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0172387691003971	0.136
18	6851026	C	T	18	6851027	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.22026696265377E-5	0.014
18	6851027	C	A	18	6851028	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.990093187374406	0.526
18	6851027	C	G	18	6851028	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.48740950475664E-4	0.206
18	6851027	C	T	18	6851028	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.60433886793066E-5	0.0
18	6851028	G	A	18	6851029	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.43689902629644E-5	0.0
18	6851028	G	C	18	6851029	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.56642167639721E-5	0.034
18	6851028	G	T	18	6851029	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.98852705832942E-5	0.052
18	6851029	T	A	18	6851030	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.74112694827171E-5	0.076
18	6851029	T	C	18	6851030	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.01603425301114E-5	0.004
18	6851029	T	G	18	6851030	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.45043465001397E-5	0.114
18	6851030	T	A	18	6851031	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.493979480264653	0.422
18	6851030	T	C	18	6851031	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.99403166617424E-5	0.108
18	6851030	T	G	18	6851031	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.996454018070381	0.708
18	6851031	A	C	18	6851032	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.67-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.544-2A>C;ENST00000400091:exon4:c.544-2A>C;ENST00000584387:exon4:c.340-2A>C;ENST00000262227:exon4:c.388-2A>C;ENST00000419673:exon3:c.67-2A>C;ENST00000581099:exon4:c.67-2A>C;ENST00000531294:exon3:c.67-2A>C;ENST00000418986:exon2:c.67-2A>C;ENST00000314319:exon2:c.67-2A>C;ENST00000577524:exon2:c.67-2A>C;ENST00000584287:exon2:c.67-2A>C;ENST00000532996:exon2:c.13-2A>C)	.	.	0.999989378869813	0.764
18	6851031	A	G	18	6851032	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.67-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.544-2A>G;ENST00000400091:exon4:c.544-2A>G;ENST00000584387:exon4:c.340-2A>G;ENST00000262227:exon4:c.388-2A>G;ENST00000419673:exon3:c.67-2A>G;ENST00000581099:exon4:c.67-2A>G;ENST00000531294:exon3:c.67-2A>G;ENST00000418986:exon2:c.67-2A>G;ENST00000314319:exon2:c.67-2A>G;ENST00000577524:exon2:c.67-2A>G;ENST00000584287:exon2:c.67-2A>G;ENST00000532996:exon2:c.13-2A>G)	.	.	0.999989378869813	0.764
18	6851031	A	T	18	6851032	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.67-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.544-2A>T;ENST00000400091:exon4:c.544-2A>T;ENST00000584387:exon4:c.340-2A>T;ENST00000262227:exon4:c.388-2A>T;ENST00000419673:exon3:c.67-2A>T;ENST00000581099:exon4:c.67-2A>T;ENST00000531294:exon3:c.67-2A>T;ENST00000418986:exon2:c.67-2A>T;ENST00000314319:exon2:c.67-2A>T;ENST00000577524:exon2:c.67-2A>T;ENST00000584287:exon2:c.67-2A>T;ENST00000532996:exon2:c.13-2A>T)	.	.	0.999989378869813	0.762
18	6851032	G	A	18	6851033	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.67-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.544-1G>A;ENST00000400091:exon4:c.544-1G>A;ENST00000584387:exon4:c.340-1G>A;ENST00000262227:exon4:c.388-1G>A;ENST00000419673:exon3:c.67-1G>A;ENST00000581099:exon4:c.67-1G>A;ENST00000531294:exon3:c.67-1G>A;ENST00000418986:exon2:c.67-1G>A;ENST00000314319:exon2:c.67-1G>A;ENST00000577524:exon2:c.67-1G>A;ENST00000584287:exon2:c.67-1G>A;ENST00000532996:exon2:c.13-1G>A)	.	.	0.999991289042512	0.756
18	6851032	G	C	18	6851033	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.67-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.544-1G>C;ENST00000400091:exon4:c.544-1G>C;ENST00000584387:exon4:c.340-1G>C;ENST00000262227:exon4:c.388-1G>C;ENST00000419673:exon3:c.67-1G>C;ENST00000581099:exon4:c.67-1G>C;ENST00000531294:exon3:c.67-1G>C;ENST00000418986:exon2:c.67-1G>C;ENST00000314319:exon2:c.67-1G>C;ENST00000577524:exon2:c.67-1G>C;ENST00000584287:exon2:c.67-1G>C;ENST00000532996:exon2:c.13-1G>C)	.	.	0.999978713476295	0.702
18	6851032	G	T	18	6851033	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.67-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.544-1G>T;ENST00000400091:exon4:c.544-1G>T;ENST00000584387:exon4:c.340-1G>T;ENST00000262227:exon4:c.388-1G>T;ENST00000419673:exon3:c.67-1G>T;ENST00000581099:exon4:c.67-1G>T;ENST00000531294:exon3:c.67-1G>T;ENST00000418986:exon2:c.67-1G>T;ENST00000314319:exon2:c.67-1G>T;ENST00000577524:exon2:c.67-1G>T;ENST00000584287:exon2:c.67-1G>T;ENST00000532996:exon2:c.13-1G>T)	.	.	0.999991289042512	0.74
18	6851033	C	A	18	6851034	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.C67A:p.P23T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.C67A:p.P23T;ENSG00000088756:ENST00000314319:exon2:c.C67A:p.P23T;ENSG00000088756:ENST00000262227:exon4:c.C388A:p.P130T;ENSG00000088756:ENST00000532996:exon2:c.C13A:p.P5T;ENSG00000088756:ENST00000383472:exon4:c.C544A:p.P182T;ENSG00000088756:ENST00000531294:exon3:c.C67A:p.P23T;ENSG00000088756:ENST00000581099:exon4:c.C67A:p.P23T;ENSG00000088756:ENST00000584287:exon2:c.C67A:p.P23T;ENSG00000088756:ENST00000584387:exon4:c.C340A:p.P114T;ENSG00000088756:ENST00000577524:exon2:c.C67A:p.P23T;ENSG00000088756:ENST00000400091:exon4:c.C544A:p.P182T;ENSG00000088756:ENST00000418986:exon2:c.C67A:p.P23T;	2.66262136226965E-4	0.02
18	6851033	C	G	18	6851034	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.C67G:p.P23A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.C67G:p.P23A;ENSG00000088756:ENST00000314319:exon2:c.C67G:p.P23A;ENSG00000088756:ENST00000262227:exon4:c.C388G:p.P130A;ENSG00000088756:ENST00000532996:exon2:c.C13G:p.P5A;ENSG00000088756:ENST00000383472:exon4:c.C544G:p.P182A;ENSG00000088756:ENST00000531294:exon3:c.C67G:p.P23A;ENSG00000088756:ENST00000581099:exon4:c.C67G:p.P23A;ENSG00000088756:ENST00000584287:exon2:c.C67G:p.P23A;ENSG00000088756:ENST00000584387:exon4:c.C340G:p.P114A;ENSG00000088756:ENST00000577524:exon2:c.C67G:p.P23A;ENSG00000088756:ENST00000400091:exon4:c.C544G:p.P182A;ENSG00000088756:ENST00000418986:exon2:c.C67G:p.P23A;	7.8458460493673E-4	0.278
18	6851033	C	T	18	6851034	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.C67T:p.P23S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.C67T:p.P23S;ENSG00000088756:ENST00000314319:exon2:c.C67T:p.P23S;ENSG00000088756:ENST00000262227:exon4:c.C388T:p.P130S;ENSG00000088756:ENST00000532996:exon2:c.C13T:p.P5S;ENSG00000088756:ENST00000383472:exon4:c.C544T:p.P182S;ENSG00000088756:ENST00000531294:exon3:c.C67T:p.P23S;ENSG00000088756:ENST00000581099:exon4:c.C67T:p.P23S;ENSG00000088756:ENST00000584287:exon2:c.C67T:p.P23S;ENSG00000088756:ENST00000584387:exon4:c.C340T:p.P114S;ENSG00000088756:ENST00000577524:exon2:c.C67T:p.P23S;ENSG00000088756:ENST00000400091:exon4:c.C544T:p.P182S;ENSG00000088756:ENST00000418986:exon2:c.C67T:p.P23S;	0.00103425850304481	0.15
18	6851034	C	A	18	6851035	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.C68A:p.P23H;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.C68A:p.P23H;ENSG00000088756:ENST00000314319:exon2:c.C68A:p.P23H;ENSG00000088756:ENST00000262227:exon4:c.C389A:p.P130H;ENSG00000088756:ENST00000532996:exon2:c.C14A:p.P5H;ENSG00000088756:ENST00000383472:exon4:c.C545A:p.P182H;ENSG00000088756:ENST00000531294:exon3:c.C68A:p.P23H;ENSG00000088756:ENST00000581099:exon4:c.C68A:p.P23H;ENSG00000088756:ENST00000584287:exon2:c.C68A:p.P23H;ENSG00000088756:ENST00000584387:exon4:c.C341A:p.P114H;ENSG00000088756:ENST00000577524:exon2:c.C68A:p.P23H;ENSG00000088756:ENST00000400091:exon4:c.C545A:p.P182H;ENSG00000088756:ENST00000418986:exon2:c.C68A:p.P23H;	1.60210867846222E-4	0.012
18	6851034	C	G	18	6851035	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.C68G:p.P23R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.C68G:p.P23R;ENSG00000088756:ENST00000314319:exon2:c.C68G:p.P23R;ENSG00000088756:ENST00000262227:exon4:c.C389G:p.P130R;ENSG00000088756:ENST00000532996:exon2:c.C14G:p.P5R;ENSG00000088756:ENST00000383472:exon4:c.C545G:p.P182R;ENSG00000088756:ENST00000531294:exon3:c.C68G:p.P23R;ENSG00000088756:ENST00000581099:exon4:c.C68G:p.P23R;ENSG00000088756:ENST00000584287:exon2:c.C68G:p.P23R;ENSG00000088756:ENST00000584387:exon4:c.C341G:p.P114R;ENSG00000088756:ENST00000577524:exon2:c.C68G:p.P23R;ENSG00000088756:ENST00000400091:exon4:c.C545G:p.P182R;ENSG00000088756:ENST00000418986:exon2:c.C68G:p.P23R;	8.36306247269031E-5	0.026
18	6851034	C	T	18	6851035	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.C68T:p.P23L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.C68T:p.P23L;ENSG00000088756:ENST00000314319:exon2:c.C68T:p.P23L;ENSG00000088756:ENST00000262227:exon4:c.C389T:p.P130L;ENSG00000088756:ENST00000532996:exon2:c.C14T:p.P5L;ENSG00000088756:ENST00000383472:exon4:c.C545T:p.P182L;ENSG00000088756:ENST00000531294:exon3:c.C68T:p.P23L;ENSG00000088756:ENST00000581099:exon4:c.C68T:p.P23L;ENSG00000088756:ENST00000584287:exon2:c.C68T:p.P23L;ENSG00000088756:ENST00000584387:exon4:c.C341T:p.P114L;ENSG00000088756:ENST00000577524:exon2:c.C68T:p.P23L;ENSG00000088756:ENST00000400091:exon4:c.C545T:p.P182L;ENSG00000088756:ENST00000418986:exon2:c.C68T:p.P23L;	1.23701759134494E-4	0.006
18	6851123	A	C	18	6851124	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.A157C:p.M53L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.A157C:p.M53L;ENSG00000088756:ENST00000314319:exon2:c.A157C:p.M53L;ENSG00000088756:ENST00000262227:exon4:c.A478C:p.M160L;ENSG00000088756:ENST00000532996:exon2:c.A103C:p.M35L;ENSG00000088756:ENST00000383472:exon4:c.A634C:p.M212L;ENSG00000088756:ENST00000581099:exon4:c.A157C:p.M53L;ENSG00000088756:ENST00000584287:exon2:c.A157C:p.M53L;ENSG00000088756:ENST00000577524:exon2:c.A157C:p.M53L;ENSG00000088756:ENST00000400091:exon4:c.A634C:p.M212L;ENSG00000088756:ENST00000418986:exon2:c.A157C:p.M53L;	1.12125251045935E-4	0.2
18	6851123	A	G	18	6851124	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.A157G:p.M53V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.A157G:p.M53V;ENSG00000088756:ENST00000314319:exon2:c.A157G:p.M53V;ENSG00000088756:ENST00000262227:exon4:c.A478G:p.M160V;ENSG00000088756:ENST00000532996:exon2:c.A103G:p.M35V;ENSG00000088756:ENST00000383472:exon4:c.A634G:p.M212V;ENSG00000088756:ENST00000581099:exon4:c.A157G:p.M53V;ENSG00000088756:ENST00000584287:exon2:c.A157G:p.M53V;ENSG00000088756:ENST00000577524:exon2:c.A157G:p.M53V;ENSG00000088756:ENST00000400091:exon4:c.A634G:p.M212V;ENSG00000088756:ENST00000418986:exon2:c.A157G:p.M53V;	5.74638668900637E-5	0.01
18	6851123	A	T	18	6851124	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.A157T:p.M53L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.A157T:p.M53L;ENSG00000088756:ENST00000314319:exon2:c.A157T:p.M53L;ENSG00000088756:ENST00000262227:exon4:c.A478T:p.M160L;ENSG00000088756:ENST00000532996:exon2:c.A103T:p.M35L;ENSG00000088756:ENST00000383472:exon4:c.A634T:p.M212L;ENSG00000088756:ENST00000581099:exon4:c.A157T:p.M53L;ENSG00000088756:ENST00000584287:exon2:c.A157T:p.M53L;ENSG00000088756:ENST00000577524:exon2:c.A157T:p.M53L;ENSG00000088756:ENST00000400091:exon4:c.A634T:p.M212L;ENSG00000088756:ENST00000418986:exon2:c.A157T:p.M53L;	2.57335669605825E-4	0.126
18	6851124	T	A	18	6851125	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.T158A:p.M53K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.T158A:p.M53K;ENSG00000088756:ENST00000314319:exon2:c.T158A:p.M53K;ENSG00000088756:ENST00000262227:exon4:c.T479A:p.M160K;ENSG00000088756:ENST00000532996:exon2:c.T104A:p.M35K;ENSG00000088756:ENST00000383472:exon4:c.T635A:p.M212K;ENSG00000088756:ENST00000581099:exon4:c.T158A:p.M53K;ENSG00000088756:ENST00000584287:exon2:c.T158A:p.M53K;ENSG00000088756:ENST00000577524:exon2:c.T158A:p.M53K;ENSG00000088756:ENST00000400091:exon4:c.T635A:p.M212K;ENSG00000088756:ENST00000418986:exon2:c.T158A:p.M53K;	2.70547208080128E-5	0.052
18	6851124	T	C	18	6851125	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.T158C:p.M53T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.T158C:p.M53T;ENSG00000088756:ENST00000314319:exon2:c.T158C:p.M53T;ENSG00000088756:ENST00000262227:exon4:c.T479C:p.M160T;ENSG00000088756:ENST00000532996:exon2:c.T104C:p.M35T;ENSG00000088756:ENST00000383472:exon4:c.T635C:p.M212T;ENSG00000088756:ENST00000581099:exon4:c.T158C:p.M53T;ENSG00000088756:ENST00000584287:exon2:c.T158C:p.M53T;ENSG00000088756:ENST00000577524:exon2:c.T158C:p.M53T;ENSG00000088756:ENST00000400091:exon4:c.T635C:p.M212T;ENSG00000088756:ENST00000418986:exon2:c.T158C:p.M53T;	9.39972942823369E-6	0.004
18	6851124	T	G	18	6851125	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.T158G:p.M53R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.T158G:p.M53R;ENSG00000088756:ENST00000314319:exon2:c.T158G:p.M53R;ENSG00000088756:ENST00000262227:exon4:c.T479G:p.M160R;ENSG00000088756:ENST00000532996:exon2:c.T104G:p.M35R;ENSG00000088756:ENST00000383472:exon4:c.T635G:p.M212R;ENSG00000088756:ENST00000581099:exon4:c.T158G:p.M53R;ENSG00000088756:ENST00000584287:exon2:c.T158G:p.M53R;ENSG00000088756:ENST00000577524:exon2:c.T158G:p.M53R;ENSG00000088756:ENST00000400091:exon4:c.T635G:p.M212R;ENSG00000088756:ENST00000418986:exon2:c.T158G:p.M53R;	4.22225996170136E-5	0.0
18	6851125	G	A	18	6851126	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.G159A:p.M53I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.G159A:p.M53I;ENSG00000088756:ENST00000314319:exon2:c.G159A:p.M53I;ENSG00000088756:ENST00000262227:exon4:c.G480A:p.M160I;ENSG00000088756:ENST00000532996:exon2:c.G105A:p.M35I;ENSG00000088756:ENST00000383472:exon4:c.G636A:p.M212I;ENSG00000088756:ENST00000581099:exon4:c.G159A:p.M53I;ENSG00000088756:ENST00000584287:exon2:c.G159A:p.M53I;ENSG00000088756:ENST00000577524:exon2:c.G159A:p.M53I;ENSG00000088756:ENST00000400091:exon4:c.G636A:p.M212I;ENSG00000088756:ENST00000418986:exon2:c.G159A:p.M53I;	0.904364005666328	0.418
18	6851125	G	C	18	6851126	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.G159C:p.M53I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.G159C:p.M53I;ENSG00000088756:ENST00000314319:exon2:c.G159C:p.M53I;ENSG00000088756:ENST00000262227:exon4:c.G480C:p.M160I;ENSG00000088756:ENST00000532996:exon2:c.G105C:p.M35I;ENSG00000088756:ENST00000383472:exon4:c.G636C:p.M212I;ENSG00000088756:ENST00000581099:exon4:c.G159C:p.M53I;ENSG00000088756:ENST00000584287:exon2:c.G159C:p.M53I;ENSG00000088756:ENST00000577524:exon2:c.G159C:p.M53I;ENSG00000088756:ENST00000400091:exon4:c.G636C:p.M212I;ENSG00000088756:ENST00000418986:exon2:c.G159C:p.M53I;	0.993256796326054	0.538
18	6851125	G	T	18	6851126	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon3:c.G159T:p.M53I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon3:c.G159T:p.M53I;ENSG00000088756:ENST00000314319:exon2:c.G159T:p.M53I;ENSG00000088756:ENST00000262227:exon4:c.G480T:p.M160I;ENSG00000088756:ENST00000532996:exon2:c.G105T:p.M35I;ENSG00000088756:ENST00000383472:exon4:c.G636T:p.M212I;ENSG00000088756:ENST00000581099:exon4:c.G159T:p.M53I;ENSG00000088756:ENST00000584287:exon2:c.G159T:p.M53I;ENSG00000088756:ENST00000577524:exon2:c.G159T:p.M53I;ENSG00000088756:ENST00000400091:exon4:c.G636T:p.M212I;ENSG00000088756:ENST00000418986:exon2:c.G159T:p.M53I;	0.969810226674826	0.454
18	6851126	G	A	18	6851127	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.159+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.636+1G>A;ENST00000400091:exon4:c.636+1G>A;ENST00000262227:exon4:c.480+1G>A;ENST00000419673:exon3:c.159+1G>A;ENST00000581099:exon4:c.159+1G>A;ENST00000418986:exon2:c.159+1G>A;ENST00000314319:exon2:c.159+1G>A;ENST00000577524:exon2:c.159+1G>A;ENST00000584287:exon2:c.159+1G>A;ENST00000532996:exon2:c.105+1G>A)	.	.	0.999991289042512	0.776
18	6851126	G	C	18	6851127	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.159+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.636+1G>C;ENST00000400091:exon4:c.636+1G>C;ENST00000262227:exon4:c.480+1G>C;ENST00000419673:exon3:c.159+1G>C;ENST00000581099:exon4:c.159+1G>C;ENST00000418986:exon2:c.159+1G>C;ENST00000314319:exon2:c.159+1G>C;ENST00000577524:exon2:c.159+1G>C;ENST00000584287:exon2:c.159+1G>C;ENST00000532996:exon2:c.105+1G>C)	.	.	0.999991289042512	0.776
18	6851126	G	T	18	6851127	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.159+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.636+1G>T;ENST00000400091:exon4:c.636+1G>T;ENST00000262227:exon4:c.480+1G>T;ENST00000419673:exon3:c.159+1G>T;ENST00000581099:exon4:c.159+1G>T;ENST00000418986:exon2:c.159+1G>T;ENST00000314319:exon2:c.159+1G>T;ENST00000577524:exon2:c.159+1G>T;ENST00000584287:exon2:c.159+1G>T;ENST00000532996:exon2:c.105+1G>T)	.	.	0.999991289042512	0.776
18	6851127	T	A	18	6851128	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.159+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.636+2T>A;ENST00000400091:exon4:c.636+2T>A;ENST00000262227:exon4:c.480+2T>A;ENST00000419673:exon3:c.159+2T>A;ENST00000581099:exon4:c.159+2T>A;ENST00000418986:exon2:c.159+2T>A;ENST00000314319:exon2:c.159+2T>A;ENST00000577524:exon2:c.159+2T>A;ENST00000584287:exon2:c.159+2T>A;ENST00000532996:exon2:c.105+2T>A)	.	.	0.999984399620937	0.752
18	6851127	T	C	18	6851128	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.159+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.636+2T>C;ENST00000400091:exon4:c.636+2T>C;ENST00000262227:exon4:c.480+2T>C;ENST00000419673:exon3:c.159+2T>C;ENST00000581099:exon4:c.159+2T>C;ENST00000418986:exon2:c.159+2T>C;ENST00000314319:exon2:c.159+2T>C;ENST00000577524:exon2:c.159+2T>C;ENST00000584287:exon2:c.159+2T>C;ENST00000532996:exon2:c.105+2T>C)	.	.	0.916223517375126	0.506
18	6851127	T	G	18	6851128	y	y	splicing	ARHGAP28(NM_001010000:exon3:c.159+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon4:c.636+2T>G;ENST00000400091:exon4:c.636+2T>G;ENST00000262227:exon4:c.480+2T>G;ENST00000419673:exon3:c.159+2T>G;ENST00000581099:exon4:c.159+2T>G;ENST00000418986:exon2:c.159+2T>G;ENST00000314319:exon2:c.159+2T>G;ENST00000577524:exon2:c.159+2T>G;ENST00000584287:exon2:c.159+2T>G;ENST00000532996:exon2:c.105+2T>G)	.	.	0.999989378869813	0.756
18	6851128	A	C	18	6851129	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.990138136201541	0.746
18	6851128	A	G	18	6851129	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.92711378638721E-4	0.056
18	6851128	A	T	18	6851129	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.836199546183242	0.594
18	6851129	A	C	18	6851130	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.332096193610295	0.502
18	6851129	A	G	18	6851130	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.324728956297174	0.506
18	6851129	A	T	18	6851130	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.437807281739348	0.476
18	6851130	G	A	18	6851131	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999785649620044	0.834
18	6851130	G	C	18	6851131	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999926983116516	0.754
18	6851130	G	T	18	6851131	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999879589998682	0.798
18	6851131	T	A	18	6851132	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.129298863305185	0.446
18	6851131	T	C	18	6851132	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.10437885961685	0.452
18	6851131	T	G	18	6851132	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0131814470046843	0.352
18	6851132	T	A	18	6851133	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.54583771157E-5	0.0
18	6851132	T	C	18	6851133	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.01360650998576E-5	0.0
18	6851132	T	G	18	6851133	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.54583771157E-5	0.0
18	6851133	A	C	18	6851134	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.44880038322274E-5	0.0
18	6851133	A	G	18	6851134	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.07397411288767E-5	0.0
18	6851133	A	T	18	6851134	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.43949593129782E-5	0.0
18	6859795	T	A	18	6859796	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.955890334136389	0.69
18	6859795	T	C	18	6859796	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0048191335072726	0.132
18	6859795	T	G	18	6859796	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.910740727567533	0.588
18	6859796	T	A	18	6859797	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999883713632355	0.988
18	6859796	T	C	18	6859797	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.993308522312438	0.672
18	6859796	T	G	18	6859797	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999747785408554	0.96
18	6859797	C	A	18	6859798	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00154749513215006	0.15
18	6859797	C	G	18	6859798	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00131742038022264	0.112
18	6859797	C	T	18	6859798	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.93827286279746E-4	0.066
18	6859798	T	A	18	6859799	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.971547804770815	0.684
18	6859798	T	C	18	6859799	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.86060625139908E-4	0.048
18	6859798	T	G	18	6859799	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.877504436754511	0.644
18	6859799	C	A	18	6859800	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0876148557045249	0.192
18	6859799	C	G	18	6859800	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0626833791721374	0.146
18	6859799	C	T	18	6859800	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00344617808679911	0.19
18	6859800	C	A	18	6859801	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0286942794736383	0.11
18	6859800	C	G	18	6859801	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0105799566327926	0.146
18	6859800	C	T	18	6859801	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.44079990581938E-4	0.002
18	6859801	A	C	18	6859802	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.37617146900253E-5	0.004
18	6859801	A	G	18	6859802	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.17623416478479E-4	0.022
18	6859801	A	T	18	6859802	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.81991256935688E-5	0.004
18	6859802	T	A	18	6859803	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.982679070463025	0.864
18	6859802	T	C	18	6859803	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.134353147072834	0.258
18	6859802	T	G	18	6859803	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999945937140645	0.972
18	6859803	T	A	18	6859804	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.75912191333718E-4	0.002
18	6859803	T	C	18	6859804	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.87534446383212E-5	0.04
18	6859803	T	G	18	6859804	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.6947275304807E-4	0.088
18	6859804	T	A	18	6859805	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.645996695877418	0.404
18	6859804	T	C	18	6859805	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.83361427401893E-4	0.004
18	6859804	T	G	18	6859805	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999661488455566	0.876
18	6859805	A	C	18	6859806	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.160-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.637-2A>C;ENST00000400091:exon5:c.637-2A>C;ENST00000262227:exon5:c.481-2A>C;ENST00000419673:exon4:c.160-2A>C;ENST00000581099:exon5:c.160-2A>C;ENST00000418986:exon3:c.160-2A>C;ENST00000314319:exon3:c.160-2A>C;ENST00000532996:exon3:c.106-2A>C)	.	.	0.999988247793601	0.936
18	6859805	A	G	18	6859806	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.160-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.637-2A>G;ENST00000400091:exon5:c.637-2A>G;ENST00000262227:exon5:c.481-2A>G;ENST00000419673:exon4:c.160-2A>G;ENST00000581099:exon5:c.160-2A>G;ENST00000418986:exon3:c.160-2A>G;ENST00000314319:exon3:c.160-2A>G;ENST00000532996:exon3:c.106-2A>G)	.	.	0.999988247793601	0.936
18	6859805	A	T	18	6859806	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.160-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.637-2A>T;ENST00000400091:exon5:c.637-2A>T;ENST00000262227:exon5:c.481-2A>T;ENST00000419673:exon4:c.160-2A>T;ENST00000581099:exon5:c.160-2A>T;ENST00000418986:exon3:c.160-2A>T;ENST00000314319:exon3:c.160-2A>T;ENST00000532996:exon3:c.106-2A>T)	.	.	0.999988247793601	0.942
18	6859806	G	A	18	6859807	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.160-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.637-1G>A;ENST00000400091:exon5:c.637-1G>A;ENST00000262227:exon5:c.481-1G>A;ENST00000419673:exon4:c.160-1G>A;ENST00000581099:exon5:c.160-1G>A;ENST00000418986:exon3:c.160-1G>A;ENST00000314319:exon3:c.160-1G>A;ENST00000532996:exon3:c.106-1G>A)	.	.	0.999989072007339	0.946
18	6859806	G	C	18	6859807	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.160-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.637-1G>C;ENST00000400091:exon5:c.637-1G>C;ENST00000262227:exon5:c.481-1G>C;ENST00000419673:exon4:c.160-1G>C;ENST00000581099:exon5:c.160-1G>C;ENST00000418986:exon3:c.160-1G>C;ENST00000314319:exon3:c.160-1G>C;ENST00000532996:exon3:c.106-1G>C)	.	.	0.999989072007339	0.946
18	6859806	G	T	18	6859807	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.160-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.637-1G>T;ENST00000400091:exon5:c.637-1G>T;ENST00000262227:exon5:c.481-1G>T;ENST00000419673:exon4:c.160-1G>T;ENST00000581099:exon5:c.160-1G>T;ENST00000418986:exon3:c.160-1G>T;ENST00000314319:exon3:c.160-1G>T;ENST00000532996:exon3:c.106-1G>T)	.	.	0.999989072007339	0.946
18	6859807	C	A	18	6859808	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.C160A:p.P54T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.C160A:p.P54T;ENSG00000088756:ENST00000314319:exon3:c.C160A:p.P54T;ENSG00000088756:ENST00000262227:exon5:c.C481A:p.P161T;ENSG00000088756:ENST00000532996:exon3:c.C106A:p.P36T;ENSG00000088756:ENST00000383472:exon5:c.C637A:p.P213T;ENSG00000088756:ENST00000581099:exon5:c.C160A:p.P54T;ENSG00000088756:ENST00000400091:exon5:c.C637A:p.P213T;ENSG00000088756:ENST00000418986:exon3:c.C160A:p.P54T;	5.64583398528621E-4	0.006
18	6859807	C	G	18	6859808	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.C160G:p.P54A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.C160G:p.P54A;ENSG00000088756:ENST00000314319:exon3:c.C160G:p.P54A;ENSG00000088756:ENST00000262227:exon5:c.C481G:p.P161A;ENSG00000088756:ENST00000532996:exon3:c.C106G:p.P36A;ENSG00000088756:ENST00000383472:exon5:c.C637G:p.P213A;ENSG00000088756:ENST00000581099:exon5:c.C160G:p.P54A;ENSG00000088756:ENST00000400091:exon5:c.C637G:p.P213A;ENSG00000088756:ENST00000418986:exon3:c.C160G:p.P54A;	7.82017068777539E-4	0.118
18	6859807	C	T	18	6859808	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.C160T:p.P54S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.C160T:p.P54S;ENSG00000088756:ENST00000314319:exon3:c.C160T:p.P54S;ENSG00000088756:ENST00000262227:exon5:c.C481T:p.P161S;ENSG00000088756:ENST00000532996:exon3:c.C106T:p.P36S;ENSG00000088756:ENST00000383472:exon5:c.C637T:p.P213S;ENSG00000088756:ENST00000581099:exon5:c.C160T:p.P54S;ENSG00000088756:ENST00000400091:exon5:c.C637T:p.P213S;ENSG00000088756:ENST00000418986:exon3:c.C160T:p.P54S;	0.0118246531369678	0.26
18	6859808	C	A	18	6859809	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.C161A:p.P54Q;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.C161A:p.P54Q;ENSG00000088756:ENST00000314319:exon3:c.C161A:p.P54Q;ENSG00000088756:ENST00000262227:exon5:c.C482A:p.P161Q;ENSG00000088756:ENST00000532996:exon3:c.C107A:p.P36Q;ENSG00000088756:ENST00000383472:exon5:c.C638A:p.P213Q;ENSG00000088756:ENST00000581099:exon5:c.C161A:p.P54Q;ENSG00000088756:ENST00000400091:exon5:c.C638A:p.P213Q;ENSG00000088756:ENST00000418986:exon3:c.C161A:p.P54Q;	0.0107237990854042	0.116
18	6859808	C	G	18	6859809	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.C161G:p.P54R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.C161G:p.P54R;ENSG00000088756:ENST00000314319:exon3:c.C161G:p.P54R;ENSG00000088756:ENST00000262227:exon5:c.C482G:p.P161R;ENSG00000088756:ENST00000532996:exon3:c.C107G:p.P36R;ENSG00000088756:ENST00000383472:exon5:c.C638G:p.P213R;ENSG00000088756:ENST00000581099:exon5:c.C161G:p.P54R;ENSG00000088756:ENST00000400091:exon5:c.C638G:p.P213R;ENSG00000088756:ENST00000418986:exon3:c.C161G:p.P54R;	1.51811434650337E-4	0.014
18	6859808	C	T	18	6859809	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.C161T:p.P54L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.C161T:p.P54L;ENSG00000088756:ENST00000314319:exon3:c.C161T:p.P54L;ENSG00000088756:ENST00000262227:exon5:c.C482T:p.P161L;ENSG00000088756:ENST00000532996:exon3:c.C107T:p.P36L;ENSG00000088756:ENST00000383472:exon5:c.C638T:p.P213L;ENSG00000088756:ENST00000581099:exon5:c.C161T:p.P54L;ENSG00000088756:ENST00000400091:exon5:c.C638T:p.P213L;ENSG00000088756:ENST00000418986:exon3:c.C161T:p.P54L;	3.83952540551955E-4	0.002
18	6859894	G	A	18	6859895	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.G247A:p.V83M;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.G247A:p.V83M;ENSG00000088756:ENST00000314319:exon3:c.G247A:p.V83M;ENSG00000088756:ENST00000262227:exon5:c.G568A:p.V190M;ENSG00000088756:ENST00000532996:exon3:c.G193A:p.V65M;ENSG00000088756:ENST00000383472:exon5:c.G724A:p.V242M;ENSG00000088756:ENST00000531294:exon4:c.G232A:p.V78M;ENSG00000088756:ENST00000581099:exon5:c.G247A:p.V83M;ENSG00000088756:ENST00000400091:exon5:c.G724A:p.V242M;ENSG00000088756:ENST00000418986:exon3:c.G247A:p.V83M;	7.33968214933682E-5	0.0
18	6859894	G	C	18	6859895	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.G247C:p.V83L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.G247C:p.V83L;ENSG00000088756:ENST00000314319:exon3:c.G247C:p.V83L;ENSG00000088756:ENST00000262227:exon5:c.G568C:p.V190L;ENSG00000088756:ENST00000532996:exon3:c.G193C:p.V65L;ENSG00000088756:ENST00000383472:exon5:c.G724C:p.V242L;ENSG00000088756:ENST00000531294:exon4:c.G232C:p.V78L;ENSG00000088756:ENST00000581099:exon5:c.G247C:p.V83L;ENSG00000088756:ENST00000400091:exon5:c.G724C:p.V242L;ENSG00000088756:ENST00000418986:exon3:c.G247C:p.V83L;	7.33968214933682E-5	0.0
18	6859894	G	T	18	6859895	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.G247T:p.V83L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.G247T:p.V83L;ENSG00000088756:ENST00000314319:exon3:c.G247T:p.V83L;ENSG00000088756:ENST00000262227:exon5:c.G568T:p.V190L;ENSG00000088756:ENST00000532996:exon3:c.G193T:p.V65L;ENSG00000088756:ENST00000383472:exon5:c.G724T:p.V242L;ENSG00000088756:ENST00000531294:exon4:c.G232T:p.V78L;ENSG00000088756:ENST00000581099:exon5:c.G247T:p.V83L;ENSG00000088756:ENST00000400091:exon5:c.G724T:p.V242L;ENSG00000088756:ENST00000418986:exon3:c.G247T:p.V83L;	9.64412572849399E-5	0.012
18	6859895	T	A	18	6859896	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.T248A:p.V83E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.T248A:p.V83E;ENSG00000088756:ENST00000314319:exon3:c.T248A:p.V83E;ENSG00000088756:ENST00000262227:exon5:c.T569A:p.V190E;ENSG00000088756:ENST00000532996:exon3:c.T194A:p.V65E;ENSG00000088756:ENST00000383472:exon5:c.T725A:p.V242E;ENSG00000088756:ENST00000531294:exon4:c.T233A:p.V78E;ENSG00000088756:ENST00000581099:exon5:c.T248A:p.V83E;ENSG00000088756:ENST00000400091:exon5:c.T725A:p.V242E;ENSG00000088756:ENST00000418986:exon3:c.T248A:p.V83E;	4.0816109318512E-5	0.06
18	6859895	T	C	18	6859896	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.T248C:p.V83A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.T248C:p.V83A;ENSG00000088756:ENST00000314319:exon3:c.T248C:p.V83A;ENSG00000088756:ENST00000262227:exon5:c.T569C:p.V190A;ENSG00000088756:ENST00000532996:exon3:c.T194C:p.V65A;ENSG00000088756:ENST00000383472:exon5:c.T725C:p.V242A;ENSG00000088756:ENST00000531294:exon4:c.T233C:p.V78A;ENSG00000088756:ENST00000581099:exon5:c.T248C:p.V83A;ENSG00000088756:ENST00000400091:exon5:c.T725C:p.V242A;ENSG00000088756:ENST00000418986:exon3:c.T248C:p.V83A;	1.04496997167821E-5	0.0
18	6859895	T	G	18	6859896	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon4:c.T248G:p.V83G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.T248G:p.V83G;ENSG00000088756:ENST00000314319:exon3:c.T248G:p.V83G;ENSG00000088756:ENST00000262227:exon5:c.T569G:p.V190G;ENSG00000088756:ENST00000532996:exon3:c.T194G:p.V65G;ENSG00000088756:ENST00000383472:exon5:c.T725G:p.V242G;ENSG00000088756:ENST00000531294:exon4:c.T233G:p.V78G;ENSG00000088756:ENST00000581099:exon5:c.T248G:p.V83G;ENSG00000088756:ENST00000400091:exon5:c.T725G:p.V242G;ENSG00000088756:ENST00000418986:exon3:c.T248G:p.V83G;	6.87621030632552E-5	0.002
18	6859896	G	A	18	6859897	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon4:c.G249A:p.V83V;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.G249A:p.V83V;ENSG00000088756:ENST00000314319:exon3:c.G249A:p.V83V;ENSG00000088756:ENST00000262227:exon5:c.G570A:p.V190V;ENSG00000088756:ENST00000532996:exon3:c.G195A:p.V65V;ENSG00000088756:ENST00000383472:exon5:c.G726A:p.V242V;ENSG00000088756:ENST00000531294:exon4:c.G234A:p.V78V;ENSG00000088756:ENST00000581099:exon5:c.G249A:p.V83V;ENSG00000088756:ENST00000400091:exon5:c.G726A:p.V242V;ENSG00000088756:ENST00000418986:exon3:c.G249A:p.V83V;	0.99721886470133	0.79
18	6859896	G	C	18	6859897	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon4:c.G249C:p.V83V;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.G249C:p.V83V;ENSG00000088756:ENST00000314319:exon3:c.G249C:p.V83V;ENSG00000088756:ENST00000262227:exon5:c.G570C:p.V190V;ENSG00000088756:ENST00000532996:exon3:c.G195C:p.V65V;ENSG00000088756:ENST00000383472:exon5:c.G726C:p.V242V;ENSG00000088756:ENST00000531294:exon4:c.G234C:p.V78V;ENSG00000088756:ENST00000581099:exon5:c.G249C:p.V83V;ENSG00000088756:ENST00000400091:exon5:c.G726C:p.V242V;ENSG00000088756:ENST00000418986:exon3:c.G249C:p.V83V;	0.990591805706836	0.724
18	6859896	G	T	18	6859897	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon4:c.G249T:p.V83V;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon4:c.G249T:p.V83V;ENSG00000088756:ENST00000314319:exon3:c.G249T:p.V83V;ENSG00000088756:ENST00000262227:exon5:c.G570T:p.V190V;ENSG00000088756:ENST00000532996:exon3:c.G195T:p.V65V;ENSG00000088756:ENST00000383472:exon5:c.G726T:p.V242V;ENSG00000088756:ENST00000531294:exon4:c.G234T:p.V78V;ENSG00000088756:ENST00000581099:exon5:c.G249T:p.V83V;ENSG00000088756:ENST00000400091:exon5:c.G726T:p.V242V;ENSG00000088756:ENST00000418986:exon3:c.G249T:p.V83V;	0.996200701196853	0.732
18	6859897	G	A	18	6859898	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.249+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.726+1G>A;ENST00000400091:exon5:c.726+1G>A;ENST00000262227:exon5:c.570+1G>A;ENST00000419673:exon4:c.249+1G>A;ENST00000581099:exon5:c.249+1G>A;ENST00000531294:exon4:c.234+1G>A;ENST00000418986:exon3:c.249+1G>A;ENST00000314319:exon3:c.249+1G>A;ENST00000577524:exon3:c.226+1G>A;ENST00000584287:exon3:c.226+1G>A;ENST00000532996:exon3:c.195+1G>A)	.	.	0.999949496871441	0.932
18	6859897	G	C	18	6859898	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.249+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.726+1G>C;ENST00000400091:exon5:c.726+1G>C;ENST00000262227:exon5:c.570+1G>C;ENST00000419673:exon4:c.249+1G>C;ENST00000581099:exon5:c.249+1G>C;ENST00000531294:exon4:c.234+1G>C;ENST00000418986:exon3:c.249+1G>C;ENST00000314319:exon3:c.249+1G>C;ENST00000577524:exon3:c.226+1G>C;ENST00000584287:exon3:c.226+1G>C;ENST00000532996:exon3:c.195+1G>C)	.	.	0.999949496871441	0.942
18	6859897	G	T	18	6859898	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.249+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.726+1G>T;ENST00000400091:exon5:c.726+1G>T;ENST00000262227:exon5:c.570+1G>T;ENST00000419673:exon4:c.249+1G>T;ENST00000581099:exon5:c.249+1G>T;ENST00000531294:exon4:c.234+1G>T;ENST00000418986:exon3:c.249+1G>T;ENST00000314319:exon3:c.249+1G>T;ENST00000577524:exon3:c.226+1G>T;ENST00000584287:exon3:c.226+1G>T;ENST00000532996:exon3:c.195+1G>T)	.	.	0.999949496871441	0.942
18	6859898	T	A	18	6859899	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.249+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.726+2T>A;ENST00000400091:exon5:c.726+2T>A;ENST00000262227:exon5:c.570+2T>A;ENST00000419673:exon4:c.249+2T>A;ENST00000581099:exon5:c.249+2T>A;ENST00000531294:exon4:c.234+2T>A;ENST00000418986:exon3:c.249+2T>A;ENST00000314319:exon3:c.249+2T>A;ENST00000577524:exon3:c.226+2T>A;ENST00000584287:exon3:c.226+2T>A;ENST00000532996:exon3:c.195+2T>A)	.	.	0.99994568797423	0.942
18	6859898	T	C	18	6859899	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.249+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.726+2T>C;ENST00000400091:exon5:c.726+2T>C;ENST00000262227:exon5:c.570+2T>C;ENST00000419673:exon4:c.249+2T>C;ENST00000581099:exon5:c.249+2T>C;ENST00000531294:exon4:c.234+2T>C;ENST00000418986:exon3:c.249+2T>C;ENST00000314319:exon3:c.249+2T>C;ENST00000577524:exon3:c.226+2T>C;ENST00000584287:exon3:c.226+2T>C;ENST00000532996:exon3:c.195+2T>C)	.	.	0.943273932537554	0.688
18	6859898	T	G	18	6859899	y	y	splicing	ARHGAP28(NM_001010000:exon4:c.249+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon5:c.726+2T>G;ENST00000400091:exon5:c.726+2T>G;ENST00000262227:exon5:c.570+2T>G;ENST00000419673:exon4:c.249+2T>G;ENST00000581099:exon5:c.249+2T>G;ENST00000531294:exon4:c.234+2T>G;ENST00000418986:exon3:c.249+2T>G;ENST00000314319:exon3:c.249+2T>G;ENST00000577524:exon3:c.226+2T>G;ENST00000584287:exon3:c.226+2T>G;ENST00000532996:exon3:c.195+2T>G)	.	.	0.99994568797423	0.942
18	6859899	A	C	18	6859900	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.993538221436558	0.708
18	6859899	A	G	18	6859900	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.215212838314978	0.236
18	6859899	A	T	18	6859900	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.985162251175205	0.654
18	6859900	A	C	18	6859901	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.608581392800987	0.538
18	6859900	A	G	18	6859901	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.860598389505154	0.584
18	6859900	A	T	18	6859901	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.801238133373424	0.612
18	6859901	G	A	18	6859902	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999421405581037	0.92
18	6859901	G	C	18	6859902	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99963471005391	0.86
18	6859901	G	T	18	6859902	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99982542355661	0.86
18	6859902	T	A	18	6859903	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0164439156896267	0.262
18	6859902	T	C	18	6859903	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0212470053108331	0.32
18	6859902	T	G	18	6859903	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00370613891075979	0.172
18	6859903	C	A	18	6859904	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.19838496773655E-5	0.0
18	6859903	C	G	18	6859904	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.19838496773655E-5	0.0
18	6859903	C	T	18	6859904	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.19838496773655E-5	0.0
18	6859904	A	C	18	6859905	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.55869924932381E-5	0.004
18	6859904	A	G	18	6859905	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.07659979165705E-5	0.0
18	6859904	A	T	18	6859905	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.23986773567894E-5	0.0
18	6868137	T	A	18	6868138	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0115274414010861	0.192
18	6868137	T	C	18	6868138	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.14240208973154E-5	0.02
18	6868137	T	G	18	6868138	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0153461256318747	0.166
18	6868138	T	A	18	6868139	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.499641294897025	0.42
18	6868138	T	C	18	6868139	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00680319083585732	0.098
18	6868138	T	G	18	6868139	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.276311247166654	0.396
18	6868139	T	A	18	6868140	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999657922502368	0.958
18	6868139	T	C	18	6868140	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.08655664351493E-4	0.0
18	6868139	T	G	18	6868140	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00660405953840091	0.182
18	6868140	G	A	18	6868141	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.72630352522415E-5	0.012
18	6868140	G	C	18	6868141	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.0473109257789E-4	0.002
18	6868140	G	T	18	6868141	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.22862373957458E-4	0.004
18	6868141	C	A	18	6868142	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00345402444589172	0.06
18	6868141	C	G	18	6868142	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00499772237546269	0.072
18	6868141	C	T	18	6868142	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.73311070858138E-4	0.002
18	6868142	T	A	18	6868143	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.119359966733197	0.244
18	6868142	T	C	18	6868143	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.57099465443414E-5	0.02
18	6868142	T	G	18	6868143	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.125940947583233	0.224
18	6868143	T	A	18	6868144	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999846756766055	0.976
18	6868143	T	C	18	6868144	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.88798711393856E-4	0.014
18	6868143	T	G	18	6868144	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0121478651308704	0.276
18	6868144	G	A	18	6868145	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.591689323827951	0.604
18	6868144	G	C	18	6868145	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.3440944737957E-5	0.002
18	6868144	G	T	18	6868145	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.19365114561276E-5	0.01
18	6868145	G	A	18	6868146	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.45751583585302E-4	0.052
18	6868145	G	C	18	6868146	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.50711157265286E-5	0.002
18	6868145	G	T	18	6868146	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.50265144858901E-4	0.01
18	6868146	C	A	18	6868147	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.975301438628878	0.786
18	6868146	C	G	18	6868147	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.9992360145623	0.918
18	6868146	C	T	18	6868147	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0313603124690161	0.19
18	6868147	A	C	18	6868148	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.250-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.727-2A>C;ENST00000400091:exon6:c.727-2A>C;ENST00000262227:exon6:c.571-2A>C;ENST00000419673:exon5:c.250-2A>C;ENST00000581099:exon6:c.250-2A>C;ENST00000531294:exon5:c.235-2A>C;ENST00000418986:exon4:c.250-2A>C;ENST00000314319:exon4:c.250-2A>C;ENST00000577524:exon4:c.227-2A>C;ENST00000584287:exon4:c.227-2A>C;ENST00000532996:exon4:c.196-2A>C)	.	.	0.999964896440643	0.938
18	6868147	A	G	18	6868148	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.250-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.727-2A>G;ENST00000400091:exon6:c.727-2A>G;ENST00000262227:exon6:c.571-2A>G;ENST00000419673:exon5:c.250-2A>G;ENST00000581099:exon6:c.250-2A>G;ENST00000531294:exon5:c.235-2A>G;ENST00000418986:exon4:c.250-2A>G;ENST00000314319:exon4:c.250-2A>G;ENST00000577524:exon4:c.227-2A>G;ENST00000584287:exon4:c.227-2A>G;ENST00000532996:exon4:c.196-2A>G)	.	.	0.999964896440643	0.938
18	6868147	A	T	18	6868148	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.250-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.727-2A>T;ENST00000400091:exon6:c.727-2A>T;ENST00000262227:exon6:c.571-2A>T;ENST00000419673:exon5:c.250-2A>T;ENST00000581099:exon6:c.250-2A>T;ENST00000531294:exon5:c.235-2A>T;ENST00000418986:exon4:c.250-2A>T;ENST00000314319:exon4:c.250-2A>T;ENST00000577524:exon4:c.227-2A>T;ENST00000584287:exon4:c.227-2A>T;ENST00000532996:exon4:c.196-2A>T)	.	.	0.999946188727699	0.94
18	6868148	G	A	18	6868149	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.250-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.727-1G>A;ENST00000400091:exon6:c.727-1G>A;ENST00000262227:exon6:c.571-1G>A;ENST00000419673:exon5:c.250-1G>A;ENST00000581099:exon6:c.250-1G>A;ENST00000531294:exon5:c.235-1G>A;ENST00000418986:exon4:c.250-1G>A;ENST00000314319:exon4:c.250-1G>A;ENST00000577524:exon4:c.227-1G>A;ENST00000584287:exon4:c.227-1G>A;ENST00000532996:exon4:c.196-1G>A)	.	.	0.999955326288872	0.908
18	6868148	G	C	18	6868149	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.250-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.727-1G>C;ENST00000400091:exon6:c.727-1G>C;ENST00000262227:exon6:c.571-1G>C;ENST00000419673:exon5:c.250-1G>C;ENST00000581099:exon6:c.250-1G>C;ENST00000531294:exon5:c.235-1G>C;ENST00000418986:exon4:c.250-1G>C;ENST00000314319:exon4:c.250-1G>C;ENST00000577524:exon4:c.227-1G>C;ENST00000584287:exon4:c.227-1G>C;ENST00000532996:exon4:c.196-1G>C)	.	.	0.999973328973086	0.904
18	6868148	G	T	18	6868149	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.250-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.727-1G>T;ENST00000400091:exon6:c.727-1G>T;ENST00000262227:exon6:c.571-1G>T;ENST00000419673:exon5:c.250-1G>T;ENST00000581099:exon6:c.250-1G>T;ENST00000531294:exon5:c.235-1G>T;ENST00000418986:exon4:c.250-1G>T;ENST00000314319:exon4:c.250-1G>T;ENST00000577524:exon4:c.227-1G>T;ENST00000584287:exon4:c.227-1G>T;ENST00000532996:exon4:c.196-1G>T)	.	.	0.999973328973086	0.906
18	6868149	G	A	18	6868150	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G250A:p.A84T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G250A:p.A84T;ENSG00000088756:ENST00000314319:exon4:c.G250A:p.A84T;ENSG00000088756:ENST00000262227:exon6:c.G571A:p.A191T;ENSG00000088756:ENST00000532996:exon4:c.G196A:p.A66T;ENSG00000088756:ENST00000383472:exon6:c.G727A:p.A243T;ENSG00000088756:ENST00000531294:exon5:c.G235A:p.A79T;ENSG00000088756:ENST00000581099:exon6:c.G250A:p.A84T;ENSG00000088756:ENST00000400091:exon6:c.G727A:p.A243T;ENSG00000088756:ENST00000418986:exon4:c.G250A:p.A84T;	5.64400665478461E-4	0.108
18	6868149	G	C	18	6868150	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G250C:p.A84P;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G250C:p.A84P;ENSG00000088756:ENST00000314319:exon4:c.G250C:p.A84P;ENSG00000088756:ENST00000262227:exon6:c.G571C:p.A191P;ENSG00000088756:ENST00000532996:exon4:c.G196C:p.A66P;ENSG00000088756:ENST00000383472:exon6:c.G727C:p.A243P;ENSG00000088756:ENST00000531294:exon5:c.G235C:p.A79P;ENSG00000088756:ENST00000581099:exon6:c.G250C:p.A84P;ENSG00000088756:ENST00000400091:exon6:c.G727C:p.A243P;ENSG00000088756:ENST00000418986:exon4:c.G250C:p.A84P;	0.00308882640412382	0.23
18	6868149	G	T	18	6868150	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G250T:p.A84S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G250T:p.A84S;ENSG00000088756:ENST00000314319:exon4:c.G250T:p.A84S;ENSG00000088756:ENST00000262227:exon6:c.G571T:p.A191S;ENSG00000088756:ENST00000532996:exon4:c.G196T:p.A66S;ENSG00000088756:ENST00000383472:exon6:c.G727T:p.A243S;ENSG00000088756:ENST00000531294:exon5:c.G235T:p.A79S;ENSG00000088756:ENST00000581099:exon6:c.G250T:p.A84S;ENSG00000088756:ENST00000400091:exon6:c.G727T:p.A243S;ENSG00000088756:ENST00000418986:exon4:c.G250T:p.A84S;	0.0821000676471987	0.352
18	6868150	C	A	18	6868151	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.C251A:p.A84D;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.C251A:p.A84D;ENSG00000088756:ENST00000314319:exon4:c.C251A:p.A84D;ENSG00000088756:ENST00000262227:exon6:c.C572A:p.A191D;ENSG00000088756:ENST00000532996:exon4:c.C197A:p.A66D;ENSG00000088756:ENST00000383472:exon6:c.C728A:p.A243D;ENSG00000088756:ENST00000531294:exon5:c.C236A:p.A79D;ENSG00000088756:ENST00000581099:exon6:c.C251A:p.A84D;ENSG00000088756:ENST00000400091:exon6:c.C728A:p.A243D;ENSG00000088756:ENST00000418986:exon4:c.C251A:p.A84D;	0.00520156030988458	0.13
18	6868150	C	G	18	6868151	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.C251G:p.A84G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.C251G:p.A84G;ENSG00000088756:ENST00000314319:exon4:c.C251G:p.A84G;ENSG00000088756:ENST00000262227:exon6:c.C572G:p.A191G;ENSG00000088756:ENST00000532996:exon4:c.C197G:p.A66G;ENSG00000088756:ENST00000383472:exon6:c.C728G:p.A243G;ENSG00000088756:ENST00000531294:exon5:c.C236G:p.A79G;ENSG00000088756:ENST00000581099:exon6:c.C251G:p.A84G;ENSG00000088756:ENST00000400091:exon6:c.C728G:p.A243G;ENSG00000088756:ENST00000418986:exon4:c.C251G:p.A84G;	0.00693070343480921	0.108
18	6868150	C	T	18	6868151	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.C251T:p.A84V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.C251T:p.A84V;ENSG00000088756:ENST00000314319:exon4:c.C251T:p.A84V;ENSG00000088756:ENST00000262227:exon6:c.C572T:p.A191V;ENSG00000088756:ENST00000532996:exon4:c.C197T:p.A66V;ENSG00000088756:ENST00000383472:exon6:c.C728T:p.A243V;ENSG00000088756:ENST00000531294:exon5:c.C236T:p.A79V;ENSG00000088756:ENST00000581099:exon6:c.C251T:p.A84V;ENSG00000088756:ENST00000400091:exon6:c.C728T:p.A243V;ENSG00000088756:ENST00000418986:exon4:c.C251T:p.A84V;	0.0055150577379935	0.086
18	6868231	G	A	18	6868232	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G332A:p.S111N;	exonic;splicing	ENSG00000088756;ENSG00000088756(ENST00000584287:exon4:c.308+1G>A)	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G332A:p.S111N;ENSG00000088756:ENST00000314319:exon4:c.G332A:p.S111N;ENSG00000088756:ENST00000262227:exon6:c.G653A:p.S218N;ENSG00000088756:ENST00000532996:exon4:c.G278A:p.S93N;ENSG00000088756:ENST00000383472:exon6:c.G809A:p.S270N;ENSG00000088756:ENST00000531294:exon5:c.G317A:p.S106N;ENSG00000088756:ENST00000581099:exon6:c.G332A:p.S111N;ENSG00000088756:ENST00000400091:exon6:c.G809A:p.S270N;ENSG00000088756:ENST00000418986:exon4:c.G332A:p.S111N;	5.7989175275978E-5	0.012
18	6868231	G	C	18	6868232	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G332C:p.S111T;	exonic;splicing	ENSG00000088756;ENSG00000088756(ENST00000584287:exon4:c.308+1G>C)	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G332C:p.S111T;ENSG00000088756:ENST00000314319:exon4:c.G332C:p.S111T;ENSG00000088756:ENST00000262227:exon6:c.G653C:p.S218T;ENSG00000088756:ENST00000532996:exon4:c.G278C:p.S93T;ENSG00000088756:ENST00000383472:exon6:c.G809C:p.S270T;ENSG00000088756:ENST00000531294:exon5:c.G317C:p.S106T;ENSG00000088756:ENST00000581099:exon6:c.G332C:p.S111T;ENSG00000088756:ENST00000400091:exon6:c.G809C:p.S270T;ENSG00000088756:ENST00000418986:exon4:c.G332C:p.S111T;	3.06301230026713E-5	0.014
18	6868231	G	T	18	6868232	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G332T:p.S111I;	exonic;splicing	ENSG00000088756;ENSG00000088756(ENST00000584287:exon4:c.308+1G>T)	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G332T:p.S111I;ENSG00000088756:ENST00000314319:exon4:c.G332T:p.S111I;ENSG00000088756:ENST00000262227:exon6:c.G653T:p.S218I;ENSG00000088756:ENST00000532996:exon4:c.G278T:p.S93I;ENSG00000088756:ENST00000383472:exon6:c.G809T:p.S270I;ENSG00000088756:ENST00000531294:exon5:c.G317T:p.S106I;ENSG00000088756:ENST00000581099:exon6:c.G332T:p.S111I;ENSG00000088756:ENST00000400091:exon6:c.G809T:p.S270I;ENSG00000088756:ENST00000418986:exon4:c.G332T:p.S111I;	1.95680047748097E-4	0.014
18	6868232	T	A	18	6868233	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.T333A:p.S111R;	exonic;splicing	ENSG00000088756;ENSG00000088756(ENST00000584287:exon4:c.308+2T>A)	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.T333A:p.S111R;ENSG00000088756:ENST00000314319:exon4:c.T333A:p.S111R;ENSG00000088756:ENST00000262227:exon6:c.T654A:p.S218R;ENSG00000088756:ENST00000532996:exon4:c.T279A:p.S93R;ENSG00000088756:ENST00000383472:exon6:c.T810A:p.S270R;ENSG00000088756:ENST00000531294:exon5:c.T318A:p.S106R;ENSG00000088756:ENST00000581099:exon6:c.T333A:p.S111R;ENSG00000088756:ENST00000400091:exon6:c.T810A:p.S270R;ENSG00000088756:ENST00000418986:exon4:c.T333A:p.S111R;	0.00112407457827808	0.292
18	6868232	T	C	18	6868233	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon5:c.T333C:p.S111S;	exonic;splicing	ENSG00000088756;ENSG00000088756(ENST00000584287:exon4:c.308+2T>C)	synonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.T333C:p.S111S;ENSG00000088756:ENST00000314319:exon4:c.T333C:p.S111S;ENSG00000088756:ENST00000262227:exon6:c.T654C:p.S218S;ENSG00000088756:ENST00000532996:exon4:c.T279C:p.S93S;ENSG00000088756:ENST00000383472:exon6:c.T810C:p.S270S;ENSG00000088756:ENST00000531294:exon5:c.T318C:p.S106S;ENSG00000088756:ENST00000581099:exon6:c.T333C:p.S111S;ENSG00000088756:ENST00000400091:exon6:c.T810C:p.S270S;ENSG00000088756:ENST00000418986:exon4:c.T333C:p.S111S;	1.34504062919041E-4	0.01
18	6868232	T	G	18	6868233	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.T333G:p.S111R;	exonic;splicing	ENSG00000088756;ENSG00000088756(ENST00000584287:exon4:c.308+2T>G)	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.T333G:p.S111R;ENSG00000088756:ENST00000314319:exon4:c.T333G:p.S111R;ENSG00000088756:ENST00000262227:exon6:c.T654G:p.S218R;ENSG00000088756:ENST00000532996:exon4:c.T279G:p.S93R;ENSG00000088756:ENST00000383472:exon6:c.T810G:p.S270R;ENSG00000088756:ENST00000531294:exon5:c.T318G:p.S106R;ENSG00000088756:ENST00000581099:exon6:c.T333G:p.S111R;ENSG00000088756:ENST00000400091:exon6:c.T810G:p.S270R;ENSG00000088756:ENST00000418986:exon4:c.T333G:p.S111R;	2.29839320438556E-4	0.022
18	6868233	G	A	18	6868234	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G334A:p.D112N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G334A:p.D112N;ENSG00000088756:ENST00000314319:exon4:c.G334A:p.D112N;ENSG00000088756:ENST00000262227:exon6:c.G655A:p.D219N;ENSG00000088756:ENST00000532996:exon4:c.G280A:p.D94N;ENSG00000088756:ENST00000383472:exon6:c.G811A:p.D271N;ENSG00000088756:ENST00000531294:exon5:c.G319A:p.D107N;ENSG00000088756:ENST00000400091:exon6:c.G811A:p.D271N;ENSG00000088756:ENST00000418986:exon4:c.G334A:p.D112N;	0.99980430228258	0.99
18	6868233	G	C	18	6868234	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G334C:p.D112H;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G334C:p.D112H;ENSG00000088756:ENST00000314319:exon4:c.G334C:p.D112H;ENSG00000088756:ENST00000262227:exon6:c.G655C:p.D219H;ENSG00000088756:ENST00000532996:exon4:c.G280C:p.D94H;ENSG00000088756:ENST00000383472:exon6:c.G811C:p.D271H;ENSG00000088756:ENST00000531294:exon5:c.G319C:p.D107H;ENSG00000088756:ENST00000400091:exon6:c.G811C:p.D271H;ENSG00000088756:ENST00000418986:exon4:c.G334C:p.D112H;	0.999808156484835	1.0
18	6868233	G	T	18	6868234	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon5:c.G334T:p.D112Y;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon5:c.G334T:p.D112Y;ENSG00000088756:ENST00000314319:exon4:c.G334T:p.D112Y;ENSG00000088756:ENST00000262227:exon6:c.G655T:p.D219Y;ENSG00000088756:ENST00000532996:exon4:c.G280T:p.D94Y;ENSG00000088756:ENST00000383472:exon6:c.G811T:p.D271Y;ENSG00000088756:ENST00000531294:exon5:c.G319T:p.D107Y;ENSG00000088756:ENST00000400091:exon6:c.G811T:p.D271Y;ENSG00000088756:ENST00000418986:exon4:c.G334T:p.D112Y;	0.999462848003884	0.948
18	6868234	G	A	18	6868235	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.334+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.811+1G>A;ENST00000400091:exon6:c.811+1G>A;ENST00000262227:exon6:c.655+1G>A;ENST00000419673:exon5:c.334+1G>A;ENST00000531294:exon5:c.319+1G>A;ENST00000418986:exon4:c.334+1G>A;ENST00000314319:exon4:c.334+1G>A;ENST00000577524:exon4:c.311+1G>A;ENST00000532996:exon4:c.280+1G>A)	.	.	0.999987472436108	0.792
18	6868234	G	C	18	6868235	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.334+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.811+1G>C;ENST00000400091:exon6:c.811+1G>C;ENST00000262227:exon6:c.655+1G>C;ENST00000419673:exon5:c.334+1G>C;ENST00000531294:exon5:c.319+1G>C;ENST00000418986:exon4:c.334+1G>C;ENST00000314319:exon4:c.334+1G>C;ENST00000577524:exon4:c.311+1G>C;ENST00000532996:exon4:c.280+1G>C)	.	.	0.999987472436108	0.74
18	6868234	G	T	18	6868235	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.334+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.811+1G>T;ENST00000400091:exon6:c.811+1G>T;ENST00000262227:exon6:c.655+1G>T;ENST00000419673:exon5:c.334+1G>T;ENST00000531294:exon5:c.319+1G>T;ENST00000418986:exon4:c.334+1G>T;ENST00000314319:exon4:c.334+1G>T;ENST00000577524:exon4:c.311+1G>T;ENST00000532996:exon4:c.280+1G>T)	.	.	0.999987472436108	0.774
18	6868235	T	A	18	6868236	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.334+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.811+2T>A;ENST00000400091:exon6:c.811+2T>A;ENST00000262227:exon6:c.655+2T>A;ENST00000419673:exon5:c.334+2T>A;ENST00000531294:exon5:c.319+2T>A;ENST00000418986:exon4:c.334+2T>A;ENST00000314319:exon4:c.334+2T>A;ENST00000577524:exon4:c.311+2T>A;ENST00000532996:exon4:c.280+2T>A)	.	.	0.999971317418422	0.896
18	6868235	T	C	18	6868236	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.334+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.811+2T>C;ENST00000400091:exon6:c.811+2T>C;ENST00000262227:exon6:c.655+2T>C;ENST00000419673:exon5:c.334+2T>C;ENST00000531294:exon5:c.319+2T>C;ENST00000418986:exon4:c.334+2T>C;ENST00000314319:exon4:c.334+2T>C;ENST00000577524:exon4:c.311+2T>C;ENST00000532996:exon4:c.280+2T>C)	.	.	0.99996097849573	0.902
18	6868235	T	G	18	6868236	y	y	splicing	ARHGAP28(NM_001010000:exon5:c.334+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon6:c.811+2T>G;ENST00000400091:exon6:c.811+2T>G;ENST00000262227:exon6:c.655+2T>G;ENST00000419673:exon5:c.334+2T>G;ENST00000531294:exon5:c.319+2T>G;ENST00000418986:exon4:c.334+2T>G;ENST00000314319:exon4:c.334+2T>G;ENST00000577524:exon4:c.311+2T>G;ENST00000532996:exon4:c.280+2T>G)	.	.	0.999972155025474	0.864
18	6868236	G	A	18	6868237	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.7947705387052E-4	0.002
18	6868236	G	C	18	6868237	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.994669806130274	0.746
18	6868236	G	T	18	6868237	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.997901447173783	0.67
18	6868237	A	C	18	6868238	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.922512488883458	0.73
18	6868237	A	G	18	6868238	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.95664927808447	0.782
18	6868237	A	T	18	6868238	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.992123771274884	0.832
18	6868238	G	A	18	6868239	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999980659014486	0.99
18	6868238	G	C	18	6868239	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99998808535354	0.98
18	6868238	G	T	18	6868239	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999963448871602	0.988
18	6868239	C	A	18	6868240	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.86492687705387E-4	0.076
18	6868239	C	G	18	6868240	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.81683332255985E-5	0.032
18	6868239	C	T	18	6868240	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.2248998679876E-5	0.002
18	6868240	G	A	18	6868241	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.58792931442456E-5	0.008
18	6868240	G	C	18	6868241	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.4033172506618E-5	0.002
18	6868240	G	T	18	6868241	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.18165624053647E-5	0.03
18	6868241	G	A	18	6868242	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.78389654127837E-5	0.0
18	6868241	G	C	18	6868242	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.78389654127837E-5	0.0
18	6868241	G	T	18	6868242	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.26501254653793E-5	0.004
18	6870577	T	A	18	6870578	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0277036761053929	0.344
18	6870577	T	C	18	6870578	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.49343249154857E-4	0.002
18	6870577	T	G	18	6870578	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0168459678655318	0.324
18	6870578	T	A	18	6870579	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.635475363826227	0.532
18	6870578	T	C	18	6870579	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0689624396433584	0.188
18	6870578	T	G	18	6870579	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.217162501861822	0.5
18	6870579	T	A	18	6870580	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.042951333909927	0.294
18	6870579	T	C	18	6870580	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.04424502956492E-4	0.016
18	6870579	T	G	18	6870580	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0407008364962703	0.302
18	6870580	T	A	18	6870581	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999847840507264	0.976
18	6870580	T	C	18	6870581	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.03313501815508E-4	0.0
18	6870580	T	G	18	6870581	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0151522237521056	0.272
18	6870581	G	A	18	6870582	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.36331124319884E-5	0.002
18	6870581	G	C	18	6870582	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.214278138298E-6	0.006
18	6870581	G	T	18	6870582	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.17570960908122E-5	0.002
18	6870582	T	A	18	6870583	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.114333355042003	0.194
18	6870582	T	C	18	6870583	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.80260098021399E-4	0.0
18	6870582	T	G	18	6870583	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0551175981144374	0.116
18	6870583	C	A	18	6870584	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.11412223672251E-4	0.046
18	6870583	C	G	18	6870584	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.06622144142011E-4	0.046
18	6870583	C	T	18	6870584	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.60966222503036E-5	0.002
18	6870584	T	A	18	6870585	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.484364540715548	0.418
18	6870584	T	C	18	6870585	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00169846860229999	0.058
18	6870584	T	G	18	6870585	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.642569931983059	0.428
18	6870585	T	A	18	6870586	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.37352692996781E-5	0.002
18	6870585	T	C	18	6870586	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.90834286110713E-5	0.0
18	6870585	T	G	18	6870586	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.99602080894107E-4	0.006
18	6870586	T	A	18	6870587	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00931873720647388	0.19
18	6870586	T	C	18	6870587	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.56393727827535E-5	0.026
18	6870586	T	G	18	6870587	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.986821639465818	0.698
18	6870587	A	C	18	6870588	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.335-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.812-2A>C;ENST00000400091:exon7:c.812-2A>C;ENST00000262227:exon7:c.656-2A>C;ENST00000419673:exon6:c.335-2A>C;ENST00000531294:exon6:c.320-2A>C;ENST00000418986:exon5:c.335-2A>C;ENST00000314319:exon5:c.335-2A>C;ENST00000577524:exon5:c.312-2A>C;ENST00000584287:exon5:c.309-2A>C;ENST00000532996:exon5:c.281-2A>C)	.	.	0.999962958601995	0.84
18	6870587	A	G	18	6870588	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.335-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.812-2A>G;ENST00000400091:exon7:c.812-2A>G;ENST00000262227:exon7:c.656-2A>G;ENST00000419673:exon6:c.335-2A>G;ENST00000531294:exon6:c.320-2A>G;ENST00000418986:exon5:c.335-2A>G;ENST00000314319:exon5:c.335-2A>G;ENST00000577524:exon5:c.312-2A>G;ENST00000584287:exon5:c.309-2A>G;ENST00000532996:exon5:c.281-2A>G)	.	.	0.999962958601995	0.84
18	6870587	A	T	18	6870588	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.335-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.812-2A>T;ENST00000400091:exon7:c.812-2A>T;ENST00000262227:exon7:c.656-2A>T;ENST00000419673:exon6:c.335-2A>T;ENST00000531294:exon6:c.320-2A>T;ENST00000418986:exon5:c.335-2A>T;ENST00000314319:exon5:c.335-2A>T;ENST00000577524:exon5:c.312-2A>T;ENST00000584287:exon5:c.309-2A>T;ENST00000532996:exon5:c.281-2A>T)	.	.	0.999969255906173	0.844
18	6870588	G	A	18	6870589	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.335-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.812-1G>A;ENST00000400091:exon7:c.812-1G>A;ENST00000262227:exon7:c.656-1G>A;ENST00000419673:exon6:c.335-1G>A;ENST00000531294:exon6:c.320-1G>A;ENST00000418986:exon5:c.335-1G>A;ENST00000314319:exon5:c.335-1G>A;ENST00000577524:exon5:c.312-1G>A;ENST00000584287:exon5:c.309-1G>A;ENST00000532996:exon5:c.281-1G>A)	.	.	0.999974785031454	0.878
18	6870588	G	C	18	6870589	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.335-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.812-1G>C;ENST00000400091:exon7:c.812-1G>C;ENST00000262227:exon7:c.656-1G>C;ENST00000419673:exon6:c.335-1G>C;ENST00000531294:exon6:c.320-1G>C;ENST00000418986:exon5:c.335-1G>C;ENST00000314319:exon5:c.335-1G>C;ENST00000577524:exon5:c.312-1G>C;ENST00000584287:exon5:c.309-1G>C;ENST00000532996:exon5:c.281-1G>C)	.	.	0.999974785031454	0.864
18	6870588	G	T	18	6870589	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.335-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.812-1G>T;ENST00000400091:exon7:c.812-1G>T;ENST00000262227:exon7:c.656-1G>T;ENST00000419673:exon6:c.335-1G>T;ENST00000531294:exon6:c.320-1G>T;ENST00000418986:exon5:c.335-1G>T;ENST00000314319:exon5:c.335-1G>T;ENST00000577524:exon5:c.312-1G>T;ENST00000584287:exon5:c.309-1G>T;ENST00000532996:exon5:c.281-1G>T)	.	.	0.999974785031454	0.864
18	6870589	A	C	18	6870590	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.A335C:p.D112A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.A335C:p.D112A;ENSG00000088756:ENST00000314319:exon5:c.A335C:p.D112A;ENSG00000088756:ENST00000262227:exon7:c.A656C:p.D219A;ENSG00000088756:ENST00000532996:exon5:c.A281C:p.D94A;ENSG00000088756:ENST00000383472:exon7:c.A812C:p.D271A;ENSG00000088756:ENST00000531294:exon6:c.A320C:p.D107A;ENSG00000088756:ENST00000400091:exon7:c.A812C:p.D271A;ENSG00000088756:ENST00000418986:exon5:c.A335C:p.D112A;	4.86119649980279E-5	0.012
18	6870589	A	G	18	6870590	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.A335G:p.D112G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.A335G:p.D112G;ENSG00000088756:ENST00000314319:exon5:c.A335G:p.D112G;ENSG00000088756:ENST00000262227:exon7:c.A656G:p.D219G;ENSG00000088756:ENST00000532996:exon5:c.A281G:p.D94G;ENSG00000088756:ENST00000383472:exon7:c.A812G:p.D271G;ENSG00000088756:ENST00000531294:exon6:c.A320G:p.D107G;ENSG00000088756:ENST00000400091:exon7:c.A812G:p.D271G;ENSG00000088756:ENST00000418986:exon5:c.A335G:p.D112G;	1.16330224523995E-4	0.0
18	6870589	A	T	18	6870590	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.A335T:p.D112V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.A335T:p.D112V;ENSG00000088756:ENST00000314319:exon5:c.A335T:p.D112V;ENSG00000088756:ENST00000262227:exon7:c.A656T:p.D219V;ENSG00000088756:ENST00000532996:exon5:c.A281T:p.D94V;ENSG00000088756:ENST00000383472:exon7:c.A812T:p.D271V;ENSG00000088756:ENST00000531294:exon6:c.A320T:p.D107V;ENSG00000088756:ENST00000400091:exon7:c.A812T:p.D271V;ENSG00000088756:ENST00000418986:exon5:c.A335T:p.D112V;	5.88620612979508E-4	0.07
18	6870590	T	A	18	6870591	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.T336A:p.D112E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.T336A:p.D112E;ENSG00000088756:ENST00000314319:exon5:c.T336A:p.D112E;ENSG00000088756:ENST00000262227:exon7:c.T657A:p.D219E;ENSG00000088756:ENST00000532996:exon5:c.T282A:p.D94E;ENSG00000088756:ENST00000383472:exon7:c.T813A:p.D271E;ENSG00000088756:ENST00000531294:exon6:c.T321A:p.D107E;ENSG00000088756:ENST00000400091:exon7:c.T813A:p.D271E;ENSG00000088756:ENST00000418986:exon5:c.T336A:p.D112E;	1.01162094340452E-4	0.054
18	6870590	T	C	18	6870591	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon6:c.T336C:p.D112D;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.T336C:p.D112D;ENSG00000088756:ENST00000314319:exon5:c.T336C:p.D112D;ENSG00000088756:ENST00000262227:exon7:c.T657C:p.D219D;ENSG00000088756:ENST00000532996:exon5:c.T282C:p.D94D;ENSG00000088756:ENST00000383472:exon7:c.T813C:p.D271D;ENSG00000088756:ENST00000531294:exon6:c.T321C:p.D107D;ENSG00000088756:ENST00000400091:exon7:c.T813C:p.D271D;ENSG00000088756:ENST00000418986:exon5:c.T336C:p.D112D;	4.14606685470805E-4	0.06
18	6870590	T	G	18	6870591	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.T336G:p.D112E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.T336G:p.D112E;ENSG00000088756:ENST00000314319:exon5:c.T336G:p.D112E;ENSG00000088756:ENST00000262227:exon7:c.T657G:p.D219E;ENSG00000088756:ENST00000532996:exon5:c.T282G:p.D94E;ENSG00000088756:ENST00000383472:exon7:c.T813G:p.D271E;ENSG00000088756:ENST00000531294:exon6:c.T321G:p.D107E;ENSG00000088756:ENST00000400091:exon7:c.T813G:p.D271E;ENSG00000088756:ENST00000418986:exon5:c.T336G:p.D112E;	2.67952344721542E-4	0.076
18	6870729	A	C	18	6870730	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.A475C:p.T159P;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.A475C:p.T159P;ENSG00000088756:ENST00000314319:exon5:c.A475C:p.T159P;ENSG00000088756:ENST00000262227:exon7:c.A796C:p.T266P;ENSG00000088756:ENST00000532996:exon5:c.A421C:p.T141P;ENSG00000088756:ENST00000383472:exon7:c.A952C:p.T318P;ENSG00000088756:ENST00000531294:exon6:c.A460C:p.T154P;ENSG00000088756:ENST00000400091:exon7:c.A952C:p.T318P;ENSG00000088756:ENST00000418986:exon5:c.A475C:p.T159P;	2.33462084347004E-4	0.042
18	6870729	A	G	18	6870730	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.A475G:p.T159A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.A475G:p.T159A;ENSG00000088756:ENST00000314319:exon5:c.A475G:p.T159A;ENSG00000088756:ENST00000262227:exon7:c.A796G:p.T266A;ENSG00000088756:ENST00000532996:exon5:c.A421G:p.T141A;ENSG00000088756:ENST00000383472:exon7:c.A952G:p.T318A;ENSG00000088756:ENST00000531294:exon6:c.A460G:p.T154A;ENSG00000088756:ENST00000400091:exon7:c.A952G:p.T318A;ENSG00000088756:ENST00000418986:exon5:c.A475G:p.T159A;	0.00318721737665147	0.104
18	6870729	A	T	18	6870730	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.A475T:p.T159S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.A475T:p.T159S;ENSG00000088756:ENST00000314319:exon5:c.A475T:p.T159S;ENSG00000088756:ENST00000262227:exon7:c.A796T:p.T266S;ENSG00000088756:ENST00000532996:exon5:c.A421T:p.T141S;ENSG00000088756:ENST00000383472:exon7:c.A952T:p.T318S;ENSG00000088756:ENST00000531294:exon6:c.A460T:p.T154S;ENSG00000088756:ENST00000400091:exon7:c.A952T:p.T318S;ENSG00000088756:ENST00000418986:exon5:c.A475T:p.T159S;	0.0439429216501595	0.366
18	6870730	C	A	18	6870731	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.C476A:p.T159N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.C476A:p.T159N;ENSG00000088756:ENST00000314319:exon5:c.C476A:p.T159N;ENSG00000088756:ENST00000262227:exon7:c.C797A:p.T266N;ENSG00000088756:ENST00000532996:exon5:c.C422A:p.T141N;ENSG00000088756:ENST00000383472:exon7:c.C953A:p.T318N;ENSG00000088756:ENST00000531294:exon6:c.C461A:p.T154N;ENSG00000088756:ENST00000400091:exon7:c.C953A:p.T318N;ENSG00000088756:ENST00000418986:exon5:c.C476A:p.T159N;	0.166666520023772	0.474
18	6870730	C	G	18	6870731	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.C476G:p.T159S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.C476G:p.T159S;ENSG00000088756:ENST00000314319:exon5:c.C476G:p.T159S;ENSG00000088756:ENST00000262227:exon7:c.C797G:p.T266S;ENSG00000088756:ENST00000532996:exon5:c.C422G:p.T141S;ENSG00000088756:ENST00000383472:exon7:c.C953G:p.T318S;ENSG00000088756:ENST00000531294:exon6:c.C461G:p.T154S;ENSG00000088756:ENST00000400091:exon7:c.C953G:p.T318S;ENSG00000088756:ENST00000418986:exon5:c.C476G:p.T159S;	0.0194262744058646	0.234
18	6870730	C	T	18	6870731	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon6:c.C476T:p.T159I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.C476T:p.T159I;ENSG00000088756:ENST00000314319:exon5:c.C476T:p.T159I;ENSG00000088756:ENST00000262227:exon7:c.C797T:p.T266I;ENSG00000088756:ENST00000532996:exon5:c.C422T:p.T141I;ENSG00000088756:ENST00000383472:exon7:c.C953T:p.T318I;ENSG00000088756:ENST00000531294:exon6:c.C461T:p.T154I;ENSG00000088756:ENST00000400091:exon7:c.C953T:p.T318I;ENSG00000088756:ENST00000418986:exon5:c.C476T:p.T159I;	0.0729566551011885	0.368
18	6870731	T	A	18	6870732	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon6:c.T477A:p.T159T;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.T477A:p.T159T;ENSG00000088756:ENST00000314319:exon5:c.T477A:p.T159T;ENSG00000088756:ENST00000262227:exon7:c.T798A:p.T266T;ENSG00000088756:ENST00000532996:exon5:c.T423A:p.T141T;ENSG00000088756:ENST00000383472:exon7:c.T954A:p.T318T;ENSG00000088756:ENST00000531294:exon6:c.T462A:p.T154T;ENSG00000088756:ENST00000400091:exon7:c.T954A:p.T318T;ENSG00000088756:ENST00000418986:exon5:c.T477A:p.T159T;	6.4315106804044E-5	0.014
18	6870731	T	C	18	6870732	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon6:c.T477C:p.T159T;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.T477C:p.T159T;ENSG00000088756:ENST00000314319:exon5:c.T477C:p.T159T;ENSG00000088756:ENST00000262227:exon7:c.T798C:p.T266T;ENSG00000088756:ENST00000532996:exon5:c.T423C:p.T141T;ENSG00000088756:ENST00000383472:exon7:c.T954C:p.T318T;ENSG00000088756:ENST00000531294:exon6:c.T462C:p.T154T;ENSG00000088756:ENST00000400091:exon7:c.T954C:p.T318T;ENSG00000088756:ENST00000418986:exon5:c.T477C:p.T159T;	0.0011137414559912	0.252
18	6870731	T	G	18	6870732	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon6:c.T477G:p.T159T;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon6:c.T477G:p.T159T;ENSG00000088756:ENST00000314319:exon5:c.T477G:p.T159T;ENSG00000088756:ENST00000262227:exon7:c.T798G:p.T266T;ENSG00000088756:ENST00000532996:exon5:c.T423G:p.T141T;ENSG00000088756:ENST00000383472:exon7:c.T954G:p.T318T;ENSG00000088756:ENST00000531294:exon6:c.T462G:p.T154T;ENSG00000088756:ENST00000400091:exon7:c.T954G:p.T318T;ENSG00000088756:ENST00000418986:exon5:c.T477G:p.T159T;	1.04625841862494E-4	0.004
18	6870732	G	A	18	6870733	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.477+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.954+1G>A;ENST00000400091:exon7:c.954+1G>A;ENST00000262227:exon7:c.798+1G>A;ENST00000419673:exon6:c.477+1G>A;ENST00000531294:exon6:c.462+1G>A;ENST00000418986:exon5:c.477+1G>A;ENST00000314319:exon5:c.477+1G>A;ENST00000532996:exon5:c.423+1G>A)	.	.	0.999988630721284	0.938
18	6870732	G	C	18	6870733	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.477+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.954+1G>C;ENST00000400091:exon7:c.954+1G>C;ENST00000262227:exon7:c.798+1G>C;ENST00000419673:exon6:c.477+1G>C;ENST00000531294:exon6:c.462+1G>C;ENST00000418986:exon5:c.477+1G>C;ENST00000314319:exon5:c.477+1G>C;ENST00000532996:exon5:c.423+1G>C)	.	.	0.999988630721284	0.938
18	6870732	G	T	18	6870733	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.477+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.954+1G>T;ENST00000400091:exon7:c.954+1G>T;ENST00000262227:exon7:c.798+1G>T;ENST00000419673:exon6:c.477+1G>T;ENST00000531294:exon6:c.462+1G>T;ENST00000418986:exon5:c.477+1G>T;ENST00000314319:exon5:c.477+1G>T;ENST00000532996:exon5:c.423+1G>T)	.	.	0.999988630721284	0.938
18	6870733	T	A	18	6870734	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.477+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.954+2T>A;ENST00000400091:exon7:c.954+2T>A;ENST00000262227:exon7:c.798+2T>A;ENST00000419673:exon6:c.477+2T>A;ENST00000531294:exon6:c.462+2T>A;ENST00000418986:exon5:c.477+2T>A;ENST00000314319:exon5:c.477+2T>A;ENST00000532996:exon5:c.423+2T>A)	.	.	0.999990764389106	0.94
18	6870733	T	C	18	6870734	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.477+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.954+2T>C;ENST00000400091:exon7:c.954+2T>C;ENST00000262227:exon7:c.798+2T>C;ENST00000419673:exon6:c.477+2T>C;ENST00000531294:exon6:c.462+2T>C;ENST00000418986:exon5:c.477+2T>C;ENST00000314319:exon5:c.477+2T>C;ENST00000532996:exon5:c.423+2T>C)	.	.	0.999933373721707	0.868
18	6870733	T	G	18	6870734	y	y	splicing	ARHGAP28(NM_001010000:exon6:c.477+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon7:c.954+2T>G;ENST00000400091:exon7:c.954+2T>G;ENST00000262227:exon7:c.798+2T>G;ENST00000419673:exon6:c.477+2T>G;ENST00000531294:exon6:c.462+2T>G;ENST00000418986:exon5:c.477+2T>G;ENST00000314319:exon5:c.477+2T>G;ENST00000532996:exon5:c.423+2T>G)	.	.	0.999990764389106	0.94
18	6870734	A	C	18	6870735	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99613330110023	0.656
18	6870734	A	G	18	6870735	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0946370410382E-4	0.12
18	6870734	A	T	18	6870735	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.996040824154774	0.668
18	6870735	A	C	18	6870736	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.997885825442541	0.734
18	6870735	A	G	18	6870736	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999731416432238	0.884
18	6870735	A	T	18	6870736	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.956675072510677	0.688
18	6870736	G	A	18	6870737	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999968060527263	0.998
18	6870736	G	C	18	6870737	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99998189158149	0.986
18	6870736	G	T	18	6870737	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999974758548471	0.998
18	6870737	C	A	18	6870738	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.51336724363022E-4	0.012
18	6870737	C	G	18	6870738	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.15481143568266E-5	0.052
18	6870737	C	T	18	6870738	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.98121428871126E-5	0.062
18	6870738	A	C	18	6870739	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00408814247458502	0.008
18	6870738	A	G	18	6870739	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00408814247458502	0.008
18	6870738	A	T	18	6870739	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00177321762234854	0.114
18	6870739	A	C	18	6870740	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.02873971112002E-4	0.006
18	6870739	A	G	18	6870740	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.46754029874341E-4	0.02
18	6870739	A	T	18	6870740	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0010573886566516	0.014
18	6873396	T	A	18	6873397	y	n	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999625345960966	0.96
18	6873396	T	C	18	6873397	y	n	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00106852217901279	0.164
18	6873396	T	G	18	6873397	y	n	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.121014706920266	0.522
18	6873397	G	A	18	6873398	y	n	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.80089873778596E-4	0.036
18	6873397	G	C	18	6873398	y	n	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.64567205588309E-5	0.0
18	6873397	G	T	18	6873398	y	n	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.64024644077002E-5	0.014
18	6873398	T	A	18	6873399	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.999933994307592	0.98
18	6873398	T	C	18	6873399	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.00897304802798251	0.242
18	6873398	T	G	18	6873399	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.672205833842657	0.642
18	6873399	G	A	18	6873400	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	3.1602883658933E-4	0.018
18	6873399	G	C	18	6873400	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	4.54182796781069E-5	0.0
18	6873399	G	T	18	6873400	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	3.14128311460794E-5	0.026
18	6873400	T	A	18	6873401	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.999666561402075	0.982
18	6873400	T	C	18	6873401	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	9.64688083355425E-5	0.02
18	6873400	T	G	18	6873401	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.0211274532042	0.298
18	6873401	G	A	18	6873402	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.00102465456900799	0.118
18	6873401	G	C	18	6873402	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	1.62353046608951E-5	0.0
18	6873401	G	T	18	6873402	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	1.62353046608951E-5	0.0
18	6873402	T	A	18	6873403	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.868020531380769	0.58
18	6873402	T	C	18	6873403	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.00177713150705979	0.128
18	6873402	T	G	18	6873403	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.833743052701869	0.628
18	6873403	T	A	18	6873404	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.972892078892439	0.614
18	6873403	T	C	18	6873404	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.0367727886584908	0.174
18	6873403	T	G	18	6873404	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.978153972705964	0.622
18	6873404	T	A	18	6873405	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	8.44263968382798E-5	0.006
18	6873404	T	C	18	6873405	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	9.63688311747098E-5	0.05
18	6873404	T	G	18	6873405	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	1.49213654700717E-4	0.044
18	6873405	T	A	18	6873406	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.0163177591410113	0.302
18	6873405	T	C	18	6873406	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	2.19526547429404E-5	0.008
18	6873405	T	G	18	6873406	y	n	intronic	ARHGAP28	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.942054486754931	0.624
18	6873406	A	C	18	6873407	y	n	splicing	ARHGAP28(NM_001010000:exon7:c.478-2A>C)	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.999977724223796	0.774
18	6873406	A	G	18	6873407	y	n	splicing	ARHGAP28(NM_001010000:exon7:c.478-2A>G)	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.999977724223796	0.774
18	6873406	A	T	18	6873407	y	n	splicing	ARHGAP28(NM_001010000:exon7:c.478-2A>T)	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.999977724223796	0.796
18	6873407	G	A	18	6873408	y	n	splicing	ARHGAP28(NM_001010000:exon7:c.478-1G>A)	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.999948555246183	0.826
18	6873407	G	C	18	6873408	y	n	splicing	ARHGAP28(NM_001010000:exon7:c.478-1G>C)	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.999972578019126	0.772
18	6873407	G	T	18	6873408	y	n	splicing	ARHGAP28(NM_001010000:exon7:c.478-1G>T)	.	.	ncRNA_exonic	ENSG00000263797	.	.	0.999972578019126	0.81
18	6873408	A	C	18	6873409	y	n	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.A478C:p.K160Q;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.A478C:p.K160Q;ENSG00000088756:ENST00000314319:exon6:c.A478C:p.K160Q;ENSG00000088756:ENST00000262227:exon8:c.A799C:p.K267Q;ENSG00000088756:ENST00000532996:exon6:c.A424C:p.K142Q;ENSG00000088756:ENST00000383472:exon8:c.A955C:p.K319Q;ENSG00000088756:ENST00000531294:exon7:c.A463C:p.K155Q;ENSG00000088756:ENST00000400091:exon8:c.A955C:p.K319Q;ENSG00000088756:ENST00000418986:exon6:c.A478C:p.K160Q;	0.579014230469459	0.608
18	6873408	A	G	18	6873409	y	n	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.A478G:p.K160E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.A478G:p.K160E;ENSG00000088756:ENST00000314319:exon6:c.A478G:p.K160E;ENSG00000088756:ENST00000262227:exon8:c.A799G:p.K267E;ENSG00000088756:ENST00000532996:exon6:c.A424G:p.K142E;ENSG00000088756:ENST00000383472:exon8:c.A955G:p.K319E;ENSG00000088756:ENST00000531294:exon7:c.A463G:p.K155E;ENSG00000088756:ENST00000400091:exon8:c.A955G:p.K319E;ENSG00000088756:ENST00000418986:exon6:c.A478G:p.K160E;	0.507847675217406	0.48
18	6873408	A	T	18	6873409	y	n	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon7:c.A478T:p.K160X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon7:c.A478T:p.K160X;ENSG00000088756:ENST00000314319:exon6:c.A478T:p.K160X;ENSG00000088756:ENST00000262227:exon8:c.A799T:p.K267X;ENSG00000088756:ENST00000532996:exon6:c.A424T:p.K142X;ENSG00000088756:ENST00000383472:exon8:c.A955T:p.K319X;ENSG00000088756:ENST00000531294:exon7:c.A463T:p.K155X;ENSG00000088756:ENST00000400091:exon8:c.A955T:p.K319X;ENSG00000088756:ENST00000418986:exon6:c.A478T:p.K160X;	0.841540633074713	0.516
18	6873409	A	C	18	6873410	y	n	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.A479C:p.K160T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.A479C:p.K160T;ENSG00000088756:ENST00000314319:exon6:c.A479C:p.K160T;ENSG00000088756:ENST00000262227:exon8:c.A800C:p.K267T;ENSG00000088756:ENST00000532996:exon6:c.A425C:p.K142T;ENSG00000088756:ENST00000383472:exon8:c.A956C:p.K319T;ENSG00000088756:ENST00000531294:exon7:c.A464C:p.K155T;ENSG00000088756:ENST00000400091:exon8:c.A956C:p.K319T;ENSG00000088756:ENST00000418986:exon6:c.A479C:p.K160T;	6.85578138291793E-4	0.032
18	6873409	A	G	18	6873410	y	n	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.A479G:p.K160R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.A479G:p.K160R;ENSG00000088756:ENST00000314319:exon6:c.A479G:p.K160R;ENSG00000088756:ENST00000262227:exon8:c.A800G:p.K267R;ENSG00000088756:ENST00000532996:exon6:c.A425G:p.K142R;ENSG00000088756:ENST00000383472:exon8:c.A956G:p.K319R;ENSG00000088756:ENST00000531294:exon7:c.A464G:p.K155R;ENSG00000088756:ENST00000400091:exon8:c.A956G:p.K319R;ENSG00000088756:ENST00000418986:exon6:c.A479G:p.K160R;	0.00311813770329071	0.07
18	6873409	A	T	18	6873410	y	n	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.A479T:p.K160I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.A479T:p.K160I;ENSG00000088756:ENST00000314319:exon6:c.A479T:p.K160I;ENSG00000088756:ENST00000262227:exon8:c.A800T:p.K267I;ENSG00000088756:ENST00000532996:exon6:c.A425T:p.K142I;ENSG00000088756:ENST00000383472:exon8:c.A956T:p.K319I;ENSG00000088756:ENST00000531294:exon7:c.A464T:p.K155I;ENSG00000088756:ENST00000400091:exon8:c.A956T:p.K319I;ENSG00000088756:ENST00000418986:exon6:c.A479T:p.K160I;	0.00493980099578447	0.052
18	6873571	G	A	18	6873572	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.G641A:p.R214Q;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.G641A:p.R214Q;ENSG00000088756:ENST00000314319:exon6:c.G641A:p.R214Q;ENSG00000088756:ENST00000262227:exon8:c.G962A:p.R321Q;ENSG00000088756:ENST00000532996:exon6:c.G587A:p.R196Q;ENSG00000088756:ENST00000383472:exon8:c.G1118A:p.R373Q;ENSG00000088756:ENST00000531294:exon7:c.G626A:p.R209Q;ENSG00000088756:ENST00000579689:exon1:c.G107A:p.R36Q;ENSG00000088756:ENST00000400091:exon8:c.G1118A:p.R373Q;ENSG00000088756:ENST00000418986:exon6:c.G641A:p.R214Q;	0.930393484225735	0.808
18	6873571	G	C	18	6873572	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.G641C:p.R214P;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.G641C:p.R214P;ENSG00000088756:ENST00000314319:exon6:c.G641C:p.R214P;ENSG00000088756:ENST00000262227:exon8:c.G962C:p.R321P;ENSG00000088756:ENST00000532996:exon6:c.G587C:p.R196P;ENSG00000088756:ENST00000383472:exon8:c.G1118C:p.R373P;ENSG00000088756:ENST00000531294:exon7:c.G626C:p.R209P;ENSG00000088756:ENST00000579689:exon1:c.G107C:p.R36P;ENSG00000088756:ENST00000400091:exon8:c.G1118C:p.R373P;ENSG00000088756:ENST00000418986:exon6:c.G641C:p.R214P;	0.928023518402824	0.69
18	6873571	G	T	18	6873572	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.G641T:p.R214L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.G641T:p.R214L;ENSG00000088756:ENST00000314319:exon6:c.G641T:p.R214L;ENSG00000088756:ENST00000262227:exon8:c.G962T:p.R321L;ENSG00000088756:ENST00000532996:exon6:c.G587T:p.R196L;ENSG00000088756:ENST00000383472:exon8:c.G1118T:p.R373L;ENSG00000088756:ENST00000531294:exon7:c.G626T:p.R209L;ENSG00000088756:ENST00000579689:exon1:c.G107T:p.R36L;ENSG00000088756:ENST00000400091:exon8:c.G1118T:p.R373L;ENSG00000088756:ENST00000418986:exon6:c.G641T:p.R214L;	0.964197381772168	0.762
18	6873572	A	C	18	6873573	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon7:c.A642C:p.R214R;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.A642C:p.R214R;ENSG00000088756:ENST00000314319:exon6:c.A642C:p.R214R;ENSG00000088756:ENST00000262227:exon8:c.A963C:p.R321R;ENSG00000088756:ENST00000532996:exon6:c.A588C:p.R196R;ENSG00000088756:ENST00000383472:exon8:c.A1119C:p.R373R;ENSG00000088756:ENST00000531294:exon7:c.A627C:p.R209R;ENSG00000088756:ENST00000579689:exon1:c.A108C:p.R36R;ENSG00000088756:ENST00000400091:exon8:c.A1119C:p.R373R;ENSG00000088756:ENST00000418986:exon6:c.A642C:p.R214R;	0.982904720571998	0.83
18	6873572	A	G	18	6873573	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon7:c.A642G:p.R214R;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.A642G:p.R214R;ENSG00000088756:ENST00000314319:exon6:c.A642G:p.R214R;ENSG00000088756:ENST00000262227:exon8:c.A963G:p.R321R;ENSG00000088756:ENST00000532996:exon6:c.A588G:p.R196R;ENSG00000088756:ENST00000383472:exon8:c.A1119G:p.R373R;ENSG00000088756:ENST00000531294:exon7:c.A627G:p.R209R;ENSG00000088756:ENST00000579689:exon1:c.A108G:p.R36R;ENSG00000088756:ENST00000400091:exon8:c.A1119G:p.R373R;ENSG00000088756:ENST00000418986:exon6:c.A642G:p.R214R;	0.998078384258447	0.942
18	6873572	A	T	18	6873573	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon7:c.A642T:p.R214R;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.A642T:p.R214R;ENSG00000088756:ENST00000314319:exon6:c.A642T:p.R214R;ENSG00000088756:ENST00000262227:exon8:c.A963T:p.R321R;ENSG00000088756:ENST00000532996:exon6:c.A588T:p.R196R;ENSG00000088756:ENST00000383472:exon8:c.A1119T:p.R373R;ENSG00000088756:ENST00000531294:exon7:c.A627T:p.R209R;ENSG00000088756:ENST00000579689:exon1:c.A108T:p.R36R;ENSG00000088756:ENST00000400091:exon8:c.A1119T:p.R373R;ENSG00000088756:ENST00000418986:exon6:c.A642T:p.R214R;	0.998870687545245	0.964
18	6873573	G	A	18	6873574	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.G643A:p.D215N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.G643A:p.D215N;ENSG00000088756:ENST00000314319:exon6:c.G643A:p.D215N;ENSG00000088756:ENST00000262227:exon8:c.G964A:p.D322N;ENSG00000088756:ENST00000532996:exon6:c.G589A:p.D197N;ENSG00000088756:ENST00000383472:exon8:c.G1120A:p.D374N;ENSG00000088756:ENST00000531294:exon7:c.G628A:p.D210N;ENSG00000088756:ENST00000579689:exon1:c.G109A:p.D37N;ENSG00000088756:ENST00000400091:exon8:c.G1120A:p.D374N;ENSG00000088756:ENST00000418986:exon6:c.G643A:p.D215N;	0.999974207668683	0.998
18	6873573	G	C	18	6873574	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.G643C:p.D215H;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.G643C:p.D215H;ENSG00000088756:ENST00000314319:exon6:c.G643C:p.D215H;ENSG00000088756:ENST00000262227:exon8:c.G964C:p.D322H;ENSG00000088756:ENST00000532996:exon6:c.G589C:p.D197H;ENSG00000088756:ENST00000383472:exon8:c.G1120C:p.D374H;ENSG00000088756:ENST00000531294:exon7:c.G628C:p.D210H;ENSG00000088756:ENST00000579689:exon1:c.G109C:p.D37H;ENSG00000088756:ENST00000400091:exon8:c.G1120C:p.D374H;ENSG00000088756:ENST00000418986:exon6:c.G643C:p.D215H;	0.999990483096372	0.92
18	6873573	G	T	18	6873574	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon7:c.G643T:p.D215Y;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon7:c.G643T:p.D215Y;ENSG00000088756:ENST00000314319:exon6:c.G643T:p.D215Y;ENSG00000088756:ENST00000262227:exon8:c.G964T:p.D322Y;ENSG00000088756:ENST00000532996:exon6:c.G589T:p.D197Y;ENSG00000088756:ENST00000383472:exon8:c.G1120T:p.D374Y;ENSG00000088756:ENST00000531294:exon7:c.G628T:p.D210Y;ENSG00000088756:ENST00000579689:exon1:c.G109T:p.D37Y;ENSG00000088756:ENST00000400091:exon8:c.G1120T:p.D374Y;ENSG00000088756:ENST00000418986:exon6:c.G643T:p.D215Y;	0.999949533456121	0.986
18	6873574	G	A	18	6873575	y	y	splicing	ARHGAP28(NM_001010000:exon7:c.643+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon8:c.1120+1G>A;ENST00000400091:exon8:c.1120+1G>A;ENST00000262227:exon8:c.964+1G>A;ENST00000419673:exon7:c.643+1G>A;ENST00000531294:exon7:c.628+1G>A;ENST00000418986:exon6:c.643+1G>A;ENST00000314319:exon6:c.643+1G>A;ENST00000532996:exon6:c.589+1G>A;ENST00000579689:exon1:c.109+1G>A)	.	.	0.999985532734767	0.934
18	6873574	G	C	18	6873575	y	y	splicing	ARHGAP28(NM_001010000:exon7:c.643+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon8:c.1120+1G>C;ENST00000400091:exon8:c.1120+1G>C;ENST00000262227:exon8:c.964+1G>C;ENST00000419673:exon7:c.643+1G>C;ENST00000531294:exon7:c.628+1G>C;ENST00000418986:exon6:c.643+1G>C;ENST00000314319:exon6:c.643+1G>C;ENST00000532996:exon6:c.589+1G>C;ENST00000579689:exon1:c.109+1G>C)	.	.	0.999985532734767	0.934
18	6873574	G	T	18	6873575	y	y	splicing	ARHGAP28(NM_001010000:exon7:c.643+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon8:c.1120+1G>T;ENST00000400091:exon8:c.1120+1G>T;ENST00000262227:exon8:c.964+1G>T;ENST00000419673:exon7:c.643+1G>T;ENST00000531294:exon7:c.628+1G>T;ENST00000418986:exon6:c.643+1G>T;ENST00000314319:exon6:c.643+1G>T;ENST00000532996:exon6:c.589+1G>T;ENST00000579689:exon1:c.109+1G>T)	.	.	0.999985532734767	0.934
18	6873575	T	A	18	6873576	y	y	splicing	ARHGAP28(NM_001010000:exon7:c.643+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon8:c.1120+2T>A;ENST00000400091:exon8:c.1120+2T>A;ENST00000262227:exon8:c.964+2T>A;ENST00000419673:exon7:c.643+2T>A;ENST00000531294:exon7:c.628+2T>A;ENST00000418986:exon6:c.643+2T>A;ENST00000314319:exon6:c.643+2T>A;ENST00000532996:exon6:c.589+2T>A;ENST00000579689:exon1:c.109+2T>A)	.	.	0.999988247793601	0.926
18	6873575	T	C	18	6873576	y	y	splicing	ARHGAP28(NM_001010000:exon7:c.643+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon8:c.1120+2T>C;ENST00000400091:exon8:c.1120+2T>C;ENST00000262227:exon8:c.964+2T>C;ENST00000419673:exon7:c.643+2T>C;ENST00000531294:exon7:c.628+2T>C;ENST00000418986:exon6:c.643+2T>C;ENST00000314319:exon6:c.643+2T>C;ENST00000532996:exon6:c.589+2T>C;ENST00000579689:exon1:c.109+2T>C)	.	.	0.988163425542712	0.646
18	6873575	T	G	18	6873576	y	y	splicing	ARHGAP28(NM_001010000:exon7:c.643+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon8:c.1120+2T>G;ENST00000400091:exon8:c.1120+2T>G;ENST00000262227:exon8:c.964+2T>G;ENST00000419673:exon7:c.643+2T>G;ENST00000531294:exon7:c.628+2T>G;ENST00000418986:exon6:c.643+2T>G;ENST00000314319:exon6:c.643+2T>G;ENST00000532996:exon6:c.589+2T>G;ENST00000579689:exon1:c.109+2T>G)	.	.	0.999988247793601	0.916
18	6873576	A	C	18	6873577	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.999844983539038	0.926
18	6873576	A	G	18	6873577	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.479412291241255	0.676
18	6873576	A	T	18	6873577	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.999881930080628	0.922
18	6873577	A	C	18	6873578	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.166284481363691	0.35
18	6873577	A	G	18	6873578	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.571160180704607	0.522
18	6873577	A	T	18	6873578	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.0512603422890266	0.314
18	6873578	C	A	18	6873579	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	7.13796807456387E-5	0.016
18	6873578	C	G	18	6873579	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	8.80734002675381E-5	0.016
18	6873578	C	T	18	6873579	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	7.27746640123616E-5	0.006
18	6873579	T	A	18	6873580	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.0119822845632732	0.204
18	6873579	T	C	18	6873580	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.00499116220839941	0.232
18	6873579	T	G	18	6873580	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	2.75269687568304E-4	0.222
18	6873580	A	C	18	6873581	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	8.71220744109367E-5	0.0
18	6873580	A	G	18	6873581	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	1.2938766417412E-4	0.0
18	6873580	A	T	18	6873581	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	2.4156885901322E-4	0.0
18	6873581	A	C	18	6873582	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	3.03978560457832E-5	0.0
18	6873581	A	G	18	6873582	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	2.69858957237674E-5	0.0
18	6873581	A	T	18	6873582	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	6.27477746119029E-5	0.0
18	6873671	C	A	18	6873672	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.00589964811179799	0.132
18	6873671	C	G	18	6873672	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	9.64001160414579E-4	0.084
18	6873671	C	T	18	6873672	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	1.04234469350221E-4	0.07
18	6873672	T	A	18	6873673	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.174370214547171	0.37
18	6873672	T	C	18	6873673	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.00431067847636431	0.268
18	6873672	T	G	18	6873673	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.137827161890273	0.368
18	6873673	C	A	18	6873674	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.00125545023987898	0.1
18	6873673	C	G	18	6873674	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.00512589459735948	0.126
18	6873673	C	T	18	6873674	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	3.82665750653706E-5	0.006
18	6873674	A	C	18	6873675	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	2.40419883835338E-5	0.024
18	6873674	A	G	18	6873675	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	5.0110485024962E-5	0.014
18	6873674	A	T	18	6873675	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	2.40419883835338E-5	0.026
18	6873675	C	A	18	6873676	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.00107219813794665	0.192
18	6873675	C	G	18	6873676	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.996918465373207	0.938
18	6873675	C	T	18	6873676	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	5.74164899531795E-5	0.01
18	6873676	A	C	18	6873677	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	2.40419883835338E-5	0.024
18	6873676	A	G	18	6873677	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	1.92313634467242E-4	0.036
18	6873676	A	T	18	6873677	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	2.40419883835338E-5	0.03
18	6873677	A	C	18	6873678	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	9.44732415804533E-5	0.122
18	6873677	A	G	18	6873678	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.998827102550932	0.972
18	6873677	A	T	18	6873678	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	6.00615877517418E-5	0.06
18	6873678	T	A	18	6873679	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.997106827751074	0.908
18	6873678	T	C	18	6873679	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	1.39060639565203E-4	0.038
18	6873678	T	G	18	6873679	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.995118972283694	0.916
18	6873679	G	A	18	6873680	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.0128784048288059	0.21
18	6873679	G	C	18	6873680	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.0169500747238472	0.168
18	6873679	G	T	18	6873680	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.00904472877361114	0.134
18	6873680	A	C	18	6873681	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	4.90978041404696E-4	0.052
18	6873680	A	G	18	6873681	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.0604114539831267	0.238
18	6873680	A	T	18	6873681	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	2.36775173202351E-4	0.04
18	6873681	A	C	18	6873682	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.644-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1121-2A>C;ENST00000400091:exon9:c.1121-2A>C;ENST00000262227:exon9:c.965-2A>C;ENST00000419673:exon8:c.644-2A>C;ENST00000531294:exon8:c.629-2A>C;ENST00000418986:exon7:c.644-2A>C;ENST00000314319:exon7:c.644-2A>C;ENST00000532996:exon7:c.590-2A>C;ENST00000579689:exon2:c.110-2A>C)	.	.	0.99994515364607	0.888
18	6873681	A	G	18	6873682	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.644-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1121-2A>G;ENST00000400091:exon9:c.1121-2A>G;ENST00000262227:exon9:c.965-2A>G;ENST00000419673:exon8:c.644-2A>G;ENST00000531294:exon8:c.629-2A>G;ENST00000418986:exon7:c.644-2A>G;ENST00000314319:exon7:c.644-2A>G;ENST00000532996:exon7:c.590-2A>G;ENST00000579689:exon2:c.110-2A>G)	.	.	0.99994515364607	0.888
18	6873681	A	T	18	6873682	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.644-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1121-2A>T;ENST00000400091:exon9:c.1121-2A>T;ENST00000262227:exon9:c.965-2A>T;ENST00000419673:exon8:c.644-2A>T;ENST00000531294:exon8:c.629-2A>T;ENST00000418986:exon7:c.644-2A>T;ENST00000314319:exon7:c.644-2A>T;ENST00000532996:exon7:c.590-2A>T;ENST00000579689:exon2:c.110-2A>T)	.	.	0.99994515364607	0.882
18	6873682	G	A	18	6873683	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.644-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1121-1G>A;ENST00000400091:exon9:c.1121-1G>A;ENST00000262227:exon9:c.965-1G>A;ENST00000419673:exon8:c.644-1G>A;ENST00000531294:exon8:c.629-1G>A;ENST00000418986:exon7:c.644-1G>A;ENST00000314319:exon7:c.644-1G>A;ENST00000532996:exon7:c.590-1G>A;ENST00000579689:exon2:c.110-1G>A)	.	.	0.99998761664516	0.888
18	6873682	G	C	18	6873683	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.644-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1121-1G>C;ENST00000400091:exon9:c.1121-1G>C;ENST00000262227:exon9:c.965-1G>C;ENST00000419673:exon8:c.644-1G>C;ENST00000531294:exon8:c.629-1G>C;ENST00000418986:exon7:c.644-1G>C;ENST00000314319:exon7:c.644-1G>C;ENST00000532996:exon7:c.590-1G>C;ENST00000579689:exon2:c.110-1G>C)	.	.	0.99998761664516	0.888
18	6873682	G	T	18	6873683	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.644-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1121-1G>T;ENST00000400091:exon9:c.1121-1G>T;ENST00000262227:exon9:c.965-1G>T;ENST00000419673:exon8:c.644-1G>T;ENST00000531294:exon8:c.629-1G>T;ENST00000418986:exon7:c.644-1G>T;ENST00000314319:exon7:c.644-1G>T;ENST00000532996:exon7:c.590-1G>T;ENST00000579689:exon2:c.110-1G>T)	.	.	0.99998761664516	0.888
18	6873683	A	C	18	6873684	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A644C:p.D215A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A644C:p.D215A;ENSG00000088756:ENST00000314319:exon7:c.A644C:p.D215A;ENSG00000088756:ENST00000262227:exon9:c.A965C:p.D322A;ENSG00000088756:ENST00000532996:exon7:c.A590C:p.D197A;ENSG00000088756:ENST00000383472:exon9:c.A1121C:p.D374A;ENSG00000088756:ENST00000531294:exon8:c.A629C:p.D210A;ENSG00000088756:ENST00000579689:exon2:c.A110C:p.D37A;ENSG00000088756:ENST00000400091:exon9:c.A1121C:p.D374A;ENSG00000088756:ENST00000418986:exon7:c.A644C:p.D215A;	0.375853791059626	0.508
18	6873683	A	G	18	6873684	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A644G:p.D215G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A644G:p.D215G;ENSG00000088756:ENST00000314319:exon7:c.A644G:p.D215G;ENSG00000088756:ENST00000262227:exon9:c.A965G:p.D322G;ENSG00000088756:ENST00000532996:exon7:c.A590G:p.D197G;ENSG00000088756:ENST00000383472:exon9:c.A1121G:p.D374G;ENSG00000088756:ENST00000531294:exon8:c.A629G:p.D210G;ENSG00000088756:ENST00000579689:exon2:c.A110G:p.D37G;ENSG00000088756:ENST00000400091:exon9:c.A1121G:p.D374G;ENSG00000088756:ENST00000418986:exon7:c.A644G:p.D215G;	0.719785139037287	0.698
18	6873683	A	T	18	6873684	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A644T:p.D215V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A644T:p.D215V;ENSG00000088756:ENST00000314319:exon7:c.A644T:p.D215V;ENSG00000088756:ENST00000262227:exon9:c.A965T:p.D322V;ENSG00000088756:ENST00000532996:exon7:c.A590T:p.D197V;ENSG00000088756:ENST00000383472:exon9:c.A1121T:p.D374V;ENSG00000088756:ENST00000531294:exon8:c.A629T:p.D210V;ENSG00000088756:ENST00000579689:exon2:c.A110T:p.D37V;ENSG00000088756:ENST00000400091:exon9:c.A1121T:p.D374V;ENSG00000088756:ENST00000418986:exon7:c.A644T:p.D215V;	0.512319544111961	0.426
18	6873684	C	A	18	6873685	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.C645A:p.D215E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.C645A:p.D215E;ENSG00000088756:ENST00000314319:exon7:c.C645A:p.D215E;ENSG00000088756:ENST00000262227:exon9:c.C966A:p.D322E;ENSG00000088756:ENST00000532996:exon7:c.C591A:p.D197E;ENSG00000088756:ENST00000383472:exon9:c.C1122A:p.D374E;ENSG00000088756:ENST00000531294:exon8:c.C630A:p.D210E;ENSG00000088756:ENST00000579689:exon2:c.C111A:p.D37E;ENSG00000088756:ENST00000400091:exon9:c.C1122A:p.D374E;ENSG00000088756:ENST00000418986:exon7:c.C645A:p.D215E;	4.29324320509701E-4	0.032
18	6873684	C	G	18	6873685	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.C645G:p.D215E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.C645G:p.D215E;ENSG00000088756:ENST00000314319:exon7:c.C645G:p.D215E;ENSG00000088756:ENST00000262227:exon9:c.C966G:p.D322E;ENSG00000088756:ENST00000532996:exon7:c.C591G:p.D197E;ENSG00000088756:ENST00000383472:exon9:c.C1122G:p.D374E;ENSG00000088756:ENST00000531294:exon8:c.C630G:p.D210E;ENSG00000088756:ENST00000579689:exon2:c.C111G:p.D37E;ENSG00000088756:ENST00000400091:exon9:c.C1122G:p.D374E;ENSG00000088756:ENST00000418986:exon7:c.C645G:p.D215E;	4.79384113150644E-4	0.04
18	6873684	C	T	18	6873685	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon8:c.C645T:p.D215D;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.C645T:p.D215D;ENSG00000088756:ENST00000314319:exon7:c.C645T:p.D215D;ENSG00000088756:ENST00000262227:exon9:c.C966T:p.D322D;ENSG00000088756:ENST00000532996:exon7:c.C591T:p.D197D;ENSG00000088756:ENST00000383472:exon9:c.C1122T:p.D374D;ENSG00000088756:ENST00000531294:exon8:c.C630T:p.D210D;ENSG00000088756:ENST00000579689:exon2:c.C111T:p.D37D;ENSG00000088756:ENST00000400091:exon9:c.C1122T:p.D374D;ENSG00000088756:ENST00000418986:exon7:c.C645T:p.D215D;	0.00275510288545532	0.116
18	6873772	A	C	18	6873773	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A733C:p.K245Q;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A733C:p.K245Q;ENSG00000088756:ENST00000314319:exon7:c.A733C:p.K245Q;ENSG00000088756:ENST00000262227:exon9:c.A1054C:p.K352Q;ENSG00000088756:ENST00000532996:exon7:c.A679C:p.K227Q;ENSG00000088756:ENST00000383472:exon9:c.A1210C:p.K404Q;ENSG00000088756:ENST00000531294:exon8:c.A718C:p.K240Q;ENSG00000088756:ENST00000579689:exon2:c.A199C:p.K67Q;ENSG00000088756:ENST00000400091:exon9:c.A1210C:p.K404Q;ENSG00000088756:ENST00000418986:exon7:c.A733C:p.K245Q;	0.742418362191666	0.776
18	6873772	A	G	18	6873773	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A733G:p.K245E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A733G:p.K245E;ENSG00000088756:ENST00000314319:exon7:c.A733G:p.K245E;ENSG00000088756:ENST00000262227:exon9:c.A1054G:p.K352E;ENSG00000088756:ENST00000532996:exon7:c.A679G:p.K227E;ENSG00000088756:ENST00000383472:exon9:c.A1210G:p.K404E;ENSG00000088756:ENST00000531294:exon8:c.A718G:p.K240E;ENSG00000088756:ENST00000579689:exon2:c.A199G:p.K67E;ENSG00000088756:ENST00000400091:exon9:c.A1210G:p.K404E;ENSG00000088756:ENST00000418986:exon7:c.A733G:p.K245E;	0.572153373945037	0.54
18	6873772	A	T	18	6873773	y	y	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon8:c.A733T:p.K245X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon8:c.A733T:p.K245X;ENSG00000088756:ENST00000314319:exon7:c.A733T:p.K245X;ENSG00000088756:ENST00000262227:exon9:c.A1054T:p.K352X;ENSG00000088756:ENST00000532996:exon7:c.A679T:p.K227X;ENSG00000088756:ENST00000383472:exon9:c.A1210T:p.K404X;ENSG00000088756:ENST00000531294:exon8:c.A718T:p.K240X;ENSG00000088756:ENST00000579689:exon2:c.A199T:p.K67X;ENSG00000088756:ENST00000400091:exon9:c.A1210T:p.K404X;ENSG00000088756:ENST00000418986:exon7:c.A733T:p.K245X;	0.947627257614924	0.754
18	6873773	A	C	18	6873774	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A734C:p.K245T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A734C:p.K245T;ENSG00000088756:ENST00000314319:exon7:c.A734C:p.K245T;ENSG00000088756:ENST00000262227:exon9:c.A1055C:p.K352T;ENSG00000088756:ENST00000532996:exon7:c.A680C:p.K227T;ENSG00000088756:ENST00000383472:exon9:c.A1211C:p.K404T;ENSG00000088756:ENST00000531294:exon8:c.A719C:p.K240T;ENSG00000088756:ENST00000579689:exon2:c.A200C:p.K67T;ENSG00000088756:ENST00000400091:exon9:c.A1211C:p.K404T;ENSG00000088756:ENST00000418986:exon7:c.A734C:p.K245T;	0.975499123252364	0.744
18	6873773	A	G	18	6873774	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A734G:p.K245R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A734G:p.K245R;ENSG00000088756:ENST00000314319:exon7:c.A734G:p.K245R;ENSG00000088756:ENST00000262227:exon9:c.A1055G:p.K352R;ENSG00000088756:ENST00000532996:exon7:c.A680G:p.K227R;ENSG00000088756:ENST00000383472:exon9:c.A1211G:p.K404R;ENSG00000088756:ENST00000531294:exon8:c.A719G:p.K240R;ENSG00000088756:ENST00000579689:exon2:c.A200G:p.K67R;ENSG00000088756:ENST00000400091:exon9:c.A1211G:p.K404R;ENSG00000088756:ENST00000418986:exon7:c.A734G:p.K245R;	0.914467073040188	0.574
18	6873773	A	T	18	6873774	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A734T:p.K245I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A734T:p.K245I;ENSG00000088756:ENST00000314319:exon7:c.A734T:p.K245I;ENSG00000088756:ENST00000262227:exon9:c.A1055T:p.K352I;ENSG00000088756:ENST00000532996:exon7:c.A680T:p.K227I;ENSG00000088756:ENST00000383472:exon9:c.A1211T:p.K404I;ENSG00000088756:ENST00000531294:exon8:c.A719T:p.K240I;ENSG00000088756:ENST00000579689:exon2:c.A200T:p.K67I;ENSG00000088756:ENST00000400091:exon9:c.A1211T:p.K404I;ENSG00000088756:ENST00000418986:exon7:c.A734T:p.K245I;	0.996015981095653	0.836
18	6873774	A	C	18	6873775	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A735C:p.K245N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A735C:p.K245N;ENSG00000088756:ENST00000314319:exon7:c.A735C:p.K245N;ENSG00000088756:ENST00000262227:exon9:c.A1056C:p.K352N;ENSG00000088756:ENST00000532996:exon7:c.A681C:p.K227N;ENSG00000088756:ENST00000383472:exon9:c.A1212C:p.K404N;ENSG00000088756:ENST00000531294:exon8:c.A720C:p.K240N;ENSG00000088756:ENST00000579689:exon2:c.A201C:p.K67N;ENSG00000088756:ENST00000400091:exon9:c.A1212C:p.K404N;ENSG00000088756:ENST00000418986:exon7:c.A735C:p.K245N;	0.00565365974808838	0.134
18	6873774	A	G	18	6873775	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon8:c.A735G:p.K245K;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A735G:p.K245K;ENSG00000088756:ENST00000314319:exon7:c.A735G:p.K245K;ENSG00000088756:ENST00000262227:exon9:c.A1056G:p.K352K;ENSG00000088756:ENST00000532996:exon7:c.A681G:p.K227K;ENSG00000088756:ENST00000383472:exon9:c.A1212G:p.K404K;ENSG00000088756:ENST00000531294:exon8:c.A720G:p.K240K;ENSG00000088756:ENST00000579689:exon2:c.A201G:p.K67K;ENSG00000088756:ENST00000400091:exon9:c.A1212G:p.K404K;ENSG00000088756:ENST00000418986:exon7:c.A735G:p.K245K;	8.30017746130403E-4	0.124
18	6873774	A	T	18	6873775	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon8:c.A735T:p.K245N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon8:c.A735T:p.K245N;ENSG00000088756:ENST00000314319:exon7:c.A735T:p.K245N;ENSG00000088756:ENST00000262227:exon9:c.A1056T:p.K352N;ENSG00000088756:ENST00000532996:exon7:c.A681T:p.K227N;ENSG00000088756:ENST00000383472:exon9:c.A1212T:p.K404N;ENSG00000088756:ENST00000531294:exon8:c.A720T:p.K240N;ENSG00000088756:ENST00000579689:exon2:c.A201T:p.K67N;ENSG00000088756:ENST00000400091:exon9:c.A1212T:p.K404N;ENSG00000088756:ENST00000418986:exon7:c.A735T:p.K245N;	0.0357350224839392	0.172
18	6873775	G	A	18	6873776	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.735+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1212+1G>A;ENST00000400091:exon9:c.1212+1G>A;ENST00000262227:exon9:c.1056+1G>A;ENST00000419673:exon8:c.735+1G>A;ENST00000531294:exon8:c.720+1G>A;ENST00000418986:exon7:c.735+1G>A;ENST00000314319:exon7:c.735+1G>A;ENST00000532996:exon7:c.681+1G>A;ENST00000579689:exon2:c.201+1G>A)	.	.	0.999989263107695	0.934
18	6873775	G	C	18	6873776	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.735+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1212+1G>C;ENST00000400091:exon9:c.1212+1G>C;ENST00000262227:exon9:c.1056+1G>C;ENST00000419673:exon8:c.735+1G>C;ENST00000531294:exon8:c.720+1G>C;ENST00000418986:exon7:c.735+1G>C;ENST00000314319:exon7:c.735+1G>C;ENST00000532996:exon7:c.681+1G>C;ENST00000579689:exon2:c.201+1G>C)	.	.	0.999989263107695	0.886
18	6873775	G	T	18	6873776	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.735+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1212+1G>T;ENST00000400091:exon9:c.1212+1G>T;ENST00000262227:exon9:c.1056+1G>T;ENST00000419673:exon8:c.735+1G>T;ENST00000531294:exon8:c.720+1G>T;ENST00000418986:exon7:c.735+1G>T;ENST00000314319:exon7:c.735+1G>T;ENST00000532996:exon7:c.681+1G>T;ENST00000579689:exon2:c.201+1G>T)	.	.	0.999989263107695	0.934
18	6873776	T	A	18	6873777	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.735+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1212+2T>A;ENST00000400091:exon9:c.1212+2T>A;ENST00000262227:exon9:c.1056+2T>A;ENST00000419673:exon8:c.735+2T>A;ENST00000531294:exon8:c.720+2T>A;ENST00000418986:exon7:c.735+2T>A;ENST00000314319:exon7:c.735+2T>A;ENST00000532996:exon7:c.681+2T>A;ENST00000579689:exon2:c.201+2T>A)	.	.	0.999988247793601	0.928
18	6873776	T	C	18	6873777	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.735+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1212+2T>C;ENST00000400091:exon9:c.1212+2T>C;ENST00000262227:exon9:c.1056+2T>C;ENST00000419673:exon8:c.735+2T>C;ENST00000531294:exon8:c.720+2T>C;ENST00000418986:exon7:c.735+2T>C;ENST00000314319:exon7:c.735+2T>C;ENST00000532996:exon7:c.681+2T>C;ENST00000579689:exon2:c.201+2T>C)	.	.	0.999929727175276	0.866
18	6873776	T	G	18	6873777	y	y	splicing	ARHGAP28(NM_001010000:exon8:c.735+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon9:c.1212+2T>G;ENST00000400091:exon9:c.1212+2T>G;ENST00000262227:exon9:c.1056+2T>G;ENST00000419673:exon8:c.735+2T>G;ENST00000531294:exon8:c.720+2T>G;ENST00000418986:exon7:c.735+2T>G;ENST00000314319:exon7:c.735+2T>G;ENST00000532996:exon7:c.681+2T>G;ENST00000579689:exon2:c.201+2T>G)	.	.	0.999988247793601	0.928
18	6873777	G	A	18	6873778	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	1.06431007487968E-4	0.0
18	6873777	G	C	18	6873778	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.984724471912542	0.746
18	6873777	G	T	18	6873778	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.862559605259786	0.638
18	6873778	A	C	18	6873779	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.979573042948015	0.66
18	6873778	A	G	18	6873779	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.99627658076923	0.924
18	6873778	A	T	18	6873779	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.995402210154759	0.842
18	6873779	G	A	18	6873780	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.999962961417217	0.996
18	6873779	G	C	18	6873780	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.999910517333003	0.982
18	6873779	G	T	18	6873780	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.999965000002604	0.982
18	6873780	T	A	18	6873781	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.923897836866903	0.688
18	6873780	T	C	18	6873781	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.263993468723991	0.562
18	6873780	T	G	18	6873781	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	0.902781203199381	0.674
18	6873781	A	C	18	6873782	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	3.09385077829616E-4	0.024
18	6873781	A	G	18	6873782	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	3.09385077829616E-4	0.016
18	6873781	A	T	18	6873782	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	8.2621756945689E-5	0.022
18	6873782	G	A	18	6873783	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	7.2293539341888E-5	0.0
18	6873782	G	C	18	6873783	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	5.18163160758017E-5	0.0
18	6873782	G	T	18	6873783	y	y	intronic	ARHGAP28	.	.	ncRNA_intronic	ENSG00000263797	.	.	5.18163160758017E-5	0.002
18	6876118	A	C	18	6876119	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.83036410514869E-6	0.0
18	6876118	A	G	18	6876119	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.18528625865077E-5	0.022
18	6876118	A	T	18	6876119	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.79989463929114E-5	0.02
18	6876119	T	A	18	6876120	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999411494572431	0.96
18	6876119	T	C	18	6876120	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.998452393663222	0.852
18	6876119	T	G	18	6876120	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999984124381852	0.982
18	6876120	T	A	18	6876121	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99998212710198	0.962
18	6876120	T	C	18	6876121	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00383150425398006	0.18
18	6876120	T	G	18	6876121	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.974790811562717	0.738
18	6876121	G	A	18	6876122	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.167046548134647	0.3
18	6876121	G	C	18	6876122	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.109639732783084	0.296
18	6876121	G	T	18	6876122	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0280552807119013	0.286
18	6876122	C	A	18	6876123	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.90638869005771E-4	0.078
18	6876122	C	G	18	6876123	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.0057619323034E-4	0.046
18	6876122	C	T	18	6876123	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.13321684978437E-5	0.006
18	6876123	T	A	18	6876124	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.117588188487532	0.31
18	6876123	T	C	18	6876124	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.80569077564015E-4	0.012
18	6876123	T	G	18	6876124	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.207712074062542	0.246
18	6876124	T	A	18	6876125	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.982724602999766	0.83
18	6876124	T	C	18	6876125	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.04861775367482E-4	0.062
18	6876124	T	G	18	6876125	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.98660667489707	0.854
18	6876125	T	A	18	6876126	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.998659244628861	0.96
18	6876125	T	C	18	6876126	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.8932712033726	0.6
18	6876125	T	G	18	6876126	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.997713993214826	0.88
18	6876126	C	A	18	6876127	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.11555850416785E-4	0.036
18	6876126	C	G	18	6876127	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.41165468190584E-4	0.01
18	6876126	C	T	18	6876127	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.17737606348547E-4	0.014
18	6876127	T	A	18	6876128	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0622626681366995	0.346
18	6876127	T	C	18	6876128	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.60915569166088E-5	0.048
18	6876127	T	G	18	6876128	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.9964197073328	0.78
18	6876128	A	C	18	6876129	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.736-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1213-2A>C;ENST00000400091:exon10:c.1213-2A>C;ENST00000262227:exon10:c.1057-2A>C;ENST00000419673:exon9:c.736-2A>C;ENST00000531294:exon9:c.721-2A>C;ENST00000418986:exon8:c.736-2A>C;ENST00000314319:exon8:c.736-2A>C;ENST00000532996:exon8:c.682-2A>C)	.	.	0.999988247793601	0.91
18	6876128	A	G	18	6876129	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.736-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1213-2A>G;ENST00000400091:exon10:c.1213-2A>G;ENST00000262227:exon10:c.1057-2A>G;ENST00000419673:exon9:c.736-2A>G;ENST00000531294:exon9:c.721-2A>G;ENST00000418986:exon8:c.736-2A>G;ENST00000314319:exon8:c.736-2A>G;ENST00000532996:exon8:c.682-2A>G)	.	.	0.999988247793601	0.91
18	6876128	A	T	18	6876129	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.736-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1213-2A>T;ENST00000400091:exon10:c.1213-2A>T;ENST00000262227:exon10:c.1057-2A>T;ENST00000419673:exon9:c.736-2A>T;ENST00000531294:exon9:c.721-2A>T;ENST00000418986:exon8:c.736-2A>T;ENST00000314319:exon8:c.736-2A>T;ENST00000532996:exon8:c.682-2A>T)	.	.	0.999988247793601	0.912
18	6876129	G	A	18	6876130	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.736-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1213-1G>A;ENST00000400091:exon10:c.1213-1G>A;ENST00000262227:exon10:c.1057-1G>A;ENST00000419673:exon9:c.736-1G>A;ENST00000531294:exon9:c.721-1G>A;ENST00000418986:exon8:c.736-1G>A;ENST00000314319:exon8:c.736-1G>A;ENST00000532996:exon8:c.682-1G>A)	.	.	0.999989072007339	0.918
18	6876129	G	C	18	6876130	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.736-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1213-1G>C;ENST00000400091:exon10:c.1213-1G>C;ENST00000262227:exon10:c.1057-1G>C;ENST00000419673:exon9:c.736-1G>C;ENST00000531294:exon9:c.721-1G>C;ENST00000418986:exon8:c.736-1G>C;ENST00000314319:exon8:c.736-1G>C;ENST00000532996:exon8:c.682-1G>C)	.	.	0.999989072007339	0.918
18	6876129	G	T	18	6876130	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.736-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1213-1G>T;ENST00000400091:exon10:c.1213-1G>T;ENST00000262227:exon10:c.1057-1G>T;ENST00000419673:exon9:c.736-1G>T;ENST00000531294:exon9:c.721-1G>T;ENST00000418986:exon8:c.736-1G>T;ENST00000314319:exon8:c.736-1G>T;ENST00000532996:exon8:c.682-1G>T)	.	.	0.999989072007339	0.918
18	6876130	T	A	18	6876131	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.T736A:p.F246I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.T736A:p.F246I;ENSG00000088756:ENST00000314319:exon8:c.T736A:p.F246I;ENSG00000088756:ENST00000262227:exon10:c.T1057A:p.F353I;ENSG00000088756:ENST00000532996:exon8:c.T682A:p.F228I;ENSG00000088756:ENST00000383472:exon10:c.T1213A:p.F405I;ENSG00000088756:ENST00000531294:exon9:c.T721A:p.F241I;ENSG00000088756:ENST00000400091:exon10:c.T1213A:p.F405I;ENSG00000088756:ENST00000418986:exon8:c.T736A:p.F246I;	0.71026127059814	0.61
18	6876130	T	C	18	6876131	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.T736C:p.F246L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.T736C:p.F246L;ENSG00000088756:ENST00000314319:exon8:c.T736C:p.F246L;ENSG00000088756:ENST00000262227:exon10:c.T1057C:p.F353L;ENSG00000088756:ENST00000532996:exon8:c.T682C:p.F228L;ENSG00000088756:ENST00000383472:exon10:c.T1213C:p.F405L;ENSG00000088756:ENST00000531294:exon9:c.T721C:p.F241L;ENSG00000088756:ENST00000400091:exon10:c.T1213C:p.F405L;ENSG00000088756:ENST00000418986:exon8:c.T736C:p.F246L;	5.11939310630398E-4	0.02
18	6876130	T	G	18	6876131	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.T736G:p.F246V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.T736G:p.F246V;ENSG00000088756:ENST00000314319:exon8:c.T736G:p.F246V;ENSG00000088756:ENST00000262227:exon10:c.T1057G:p.F353V;ENSG00000088756:ENST00000532996:exon8:c.T682G:p.F228V;ENSG00000088756:ENST00000383472:exon10:c.T1213G:p.F405V;ENSG00000088756:ENST00000531294:exon9:c.T721G:p.F241V;ENSG00000088756:ENST00000400091:exon10:c.T1213G:p.F405V;ENSG00000088756:ENST00000418986:exon8:c.T736G:p.F246V;	0.646443566399562	0.436
18	6876131	T	A	18	6876132	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.T737A:p.F246Y;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.T737A:p.F246Y;ENSG00000088756:ENST00000314319:exon8:c.T737A:p.F246Y;ENSG00000088756:ENST00000262227:exon10:c.T1058A:p.F353Y;ENSG00000088756:ENST00000532996:exon8:c.T683A:p.F228Y;ENSG00000088756:ENST00000383472:exon10:c.T1214A:p.F405Y;ENSG00000088756:ENST00000531294:exon9:c.T722A:p.F241Y;ENSG00000088756:ENST00000400091:exon10:c.T1214A:p.F405Y;ENSG00000088756:ENST00000418986:exon8:c.T737A:p.F246Y;	0.901977125716955	0.46
18	6876131	T	C	18	6876132	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.T737C:p.F246S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.T737C:p.F246S;ENSG00000088756:ENST00000314319:exon8:c.T737C:p.F246S;ENSG00000088756:ENST00000262227:exon10:c.T1058C:p.F353S;ENSG00000088756:ENST00000532996:exon8:c.T683C:p.F228S;ENSG00000088756:ENST00000383472:exon10:c.T1214C:p.F405S;ENSG00000088756:ENST00000531294:exon9:c.T722C:p.F241S;ENSG00000088756:ENST00000400091:exon10:c.T1214C:p.F405S;ENSG00000088756:ENST00000418986:exon8:c.T737C:p.F246S;	0.795570851518436	0.446
18	6876131	T	G	18	6876132	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.T737G:p.F246C;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.T737G:p.F246C;ENSG00000088756:ENST00000314319:exon8:c.T737G:p.F246C;ENSG00000088756:ENST00000262227:exon10:c.T1058G:p.F353C;ENSG00000088756:ENST00000532996:exon8:c.T683G:p.F228C;ENSG00000088756:ENST00000383472:exon10:c.T1214G:p.F405C;ENSG00000088756:ENST00000531294:exon9:c.T722G:p.F241C;ENSG00000088756:ENST00000400091:exon10:c.T1214G:p.F405C;ENSG00000088756:ENST00000418986:exon8:c.T737G:p.F246C;	0.893812728456913	0.384
18	6876205	A	C	18	6876206	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.A811C:p.K271Q;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.A811C:p.K271Q;ENSG00000088756:ENST00000314319:exon8:c.A811C:p.K271Q;ENSG00000088756:ENST00000262227:exon10:c.A1132C:p.K378Q;ENSG00000088756:ENST00000532996:exon8:c.A757C:p.K253Q;ENSG00000088756:ENST00000383472:exon10:c.A1288C:p.K430Q;ENSG00000088756:ENST00000531294:exon9:c.A796C:p.K266Q;ENSG00000088756:ENST00000400091:exon10:c.A1288C:p.K430Q;ENSG00000088756:ENST00000418986:exon8:c.A811C:p.K271Q;	0.880378933221404	0.722
18	6876205	A	G	18	6876206	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.A811G:p.K271E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.A811G:p.K271E;ENSG00000088756:ENST00000314319:exon8:c.A811G:p.K271E;ENSG00000088756:ENST00000262227:exon10:c.A1132G:p.K378E;ENSG00000088756:ENST00000532996:exon8:c.A757G:p.K253E;ENSG00000088756:ENST00000383472:exon10:c.A1288G:p.K430E;ENSG00000088756:ENST00000531294:exon9:c.A796G:p.K266E;ENSG00000088756:ENST00000400091:exon10:c.A1288G:p.K430E;ENSG00000088756:ENST00000418986:exon8:c.A811G:p.K271E;	0.899426741190591	0.444
18	6876205	A	T	18	6876206	y	y	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon9:c.A811T:p.K271X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon9:c.A811T:p.K271X;ENSG00000088756:ENST00000314319:exon8:c.A811T:p.K271X;ENSG00000088756:ENST00000262227:exon10:c.A1132T:p.K378X;ENSG00000088756:ENST00000532996:exon8:c.A757T:p.K253X;ENSG00000088756:ENST00000383472:exon10:c.A1288T:p.K430X;ENSG00000088756:ENST00000531294:exon9:c.A796T:p.K266X;ENSG00000088756:ENST00000400091:exon10:c.A1288T:p.K430X;ENSG00000088756:ENST00000418986:exon8:c.A811T:p.K271X;	0.998979941619868	0.85
18	6876206	A	C	18	6876207	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.A812C:p.K271T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.A812C:p.K271T;ENSG00000088756:ENST00000314319:exon8:c.A812C:p.K271T;ENSG00000088756:ENST00000262227:exon10:c.A1133C:p.K378T;ENSG00000088756:ENST00000532996:exon8:c.A758C:p.K253T;ENSG00000088756:ENST00000383472:exon10:c.A1289C:p.K430T;ENSG00000088756:ENST00000531294:exon9:c.A797C:p.K266T;ENSG00000088756:ENST00000400091:exon10:c.A1289C:p.K430T;ENSG00000088756:ENST00000418986:exon8:c.A812C:p.K271T;	0.999897269820224	0.996
18	6876206	A	G	18	6876207	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.A812G:p.K271R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.A812G:p.K271R;ENSG00000088756:ENST00000314319:exon8:c.A812G:p.K271R;ENSG00000088756:ENST00000262227:exon10:c.A1133G:p.K378R;ENSG00000088756:ENST00000532996:exon8:c.A758G:p.K253R;ENSG00000088756:ENST00000383472:exon10:c.A1289G:p.K430R;ENSG00000088756:ENST00000531294:exon9:c.A797G:p.K266R;ENSG00000088756:ENST00000400091:exon10:c.A1289G:p.K430R;ENSG00000088756:ENST00000418986:exon8:c.A812G:p.K271R;	0.999929221598369	1.0
18	6876206	A	T	18	6876207	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.A812T:p.K271M;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.A812T:p.K271M;ENSG00000088756:ENST00000314319:exon8:c.A812T:p.K271M;ENSG00000088756:ENST00000262227:exon10:c.A1133T:p.K378M;ENSG00000088756:ENST00000532996:exon8:c.A758T:p.K253M;ENSG00000088756:ENST00000383472:exon10:c.A1289T:p.K430M;ENSG00000088756:ENST00000531294:exon9:c.A797T:p.K266M;ENSG00000088756:ENST00000400091:exon10:c.A1289T:p.K430M;ENSG00000088756:ENST00000418986:exon8:c.A812T:p.K271M;	0.999926542121216	0.98
18	6876207	G	A	18	6876208	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon9:c.G813A:p.K271K;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.G813A:p.K271K;ENSG00000088756:ENST00000314319:exon8:c.G813A:p.K271K;ENSG00000088756:ENST00000262227:exon10:c.G1134A:p.K378K;ENSG00000088756:ENST00000532996:exon8:c.G759A:p.K253K;ENSG00000088756:ENST00000383472:exon10:c.G1290A:p.K430K;ENSG00000088756:ENST00000531294:exon9:c.G798A:p.K266K;ENSG00000088756:ENST00000400091:exon10:c.G1290A:p.K430K;ENSG00000088756:ENST00000418986:exon8:c.G813A:p.K271K;	0.999962467150657	1.0
18	6876207	G	C	18	6876208	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.G813C:p.K271N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.G813C:p.K271N;ENSG00000088756:ENST00000314319:exon8:c.G813C:p.K271N;ENSG00000088756:ENST00000262227:exon10:c.G1134C:p.K378N;ENSG00000088756:ENST00000532996:exon8:c.G759C:p.K253N;ENSG00000088756:ENST00000383472:exon10:c.G1290C:p.K430N;ENSG00000088756:ENST00000531294:exon9:c.G798C:p.K266N;ENSG00000088756:ENST00000400091:exon10:c.G1290C:p.K430N;ENSG00000088756:ENST00000418986:exon8:c.G813C:p.K271N;	0.999995870848299	0.956
18	6876207	G	T	18	6876208	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon9:c.G813T:p.K271N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon9:c.G813T:p.K271N;ENSG00000088756:ENST00000314319:exon8:c.G813T:p.K271N;ENSG00000088756:ENST00000262227:exon10:c.G1134T:p.K378N;ENSG00000088756:ENST00000532996:exon8:c.G759T:p.K253N;ENSG00000088756:ENST00000383472:exon10:c.G1290T:p.K430N;ENSG00000088756:ENST00000531294:exon9:c.G798T:p.K266N;ENSG00000088756:ENST00000400091:exon10:c.G1290T:p.K430N;ENSG00000088756:ENST00000418986:exon8:c.G813T:p.K271N;	0.999994001395955	0.956
18	6876208	G	A	18	6876209	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.813+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1290+1G>A;ENST00000400091:exon10:c.1290+1G>A;ENST00000262227:exon10:c.1134+1G>A;ENST00000419673:exon9:c.813+1G>A;ENST00000531294:exon9:c.798+1G>A;ENST00000418986:exon8:c.813+1G>A;ENST00000314319:exon8:c.813+1G>A;ENST00000532996:exon8:c.759+1G>A)	.	.	0.999989072007339	0.922
18	6876208	G	C	18	6876209	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.813+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1290+1G>C;ENST00000400091:exon10:c.1290+1G>C;ENST00000262227:exon10:c.1134+1G>C;ENST00000419673:exon9:c.813+1G>C;ENST00000531294:exon9:c.798+1G>C;ENST00000418986:exon8:c.813+1G>C;ENST00000314319:exon8:c.813+1G>C;ENST00000532996:exon8:c.759+1G>C)	.	.	0.999989072007339	0.92
18	6876208	G	T	18	6876209	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.813+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1290+1G>T;ENST00000400091:exon10:c.1290+1G>T;ENST00000262227:exon10:c.1134+1G>T;ENST00000419673:exon9:c.813+1G>T;ENST00000531294:exon9:c.798+1G>T;ENST00000418986:exon8:c.813+1G>T;ENST00000314319:exon8:c.813+1G>T;ENST00000532996:exon8:c.759+1G>T)	.	.	0.999989072007339	0.92
18	6876209	T	A	18	6876210	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.813+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1290+2T>A;ENST00000400091:exon10:c.1290+2T>A;ENST00000262227:exon10:c.1134+2T>A;ENST00000419673:exon9:c.813+2T>A;ENST00000531294:exon9:c.798+2T>A;ENST00000418986:exon8:c.813+2T>A;ENST00000314319:exon8:c.813+2T>A;ENST00000532996:exon8:c.759+2T>A)	.	.	0.999988247793601	0.916
18	6876209	T	C	18	6876210	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.813+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1290+2T>C;ENST00000400091:exon10:c.1290+2T>C;ENST00000262227:exon10:c.1134+2T>C;ENST00000419673:exon9:c.813+2T>C;ENST00000531294:exon9:c.798+2T>C;ENST00000418986:exon8:c.813+2T>C;ENST00000314319:exon8:c.813+2T>C;ENST00000532996:exon8:c.759+2T>C)	.	.	0.990738419264004	0.678
18	6876209	T	G	18	6876210	y	y	splicing	ARHGAP28(NM_001010000:exon9:c.813+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon10:c.1290+2T>G;ENST00000400091:exon10:c.1290+2T>G;ENST00000262227:exon10:c.1134+2T>G;ENST00000419673:exon9:c.813+2T>G;ENST00000531294:exon9:c.798+2T>G;ENST00000418986:exon8:c.813+2T>G;ENST00000314319:exon8:c.813+2T>G;ENST00000532996:exon8:c.759+2T>G)	.	.	0.999988247793601	0.916
18	6876210	A	C	18	6876211	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999908951500987	0.944
18	6876210	A	G	18	6876211	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.996503647592827	0.916
18	6876210	A	T	18	6876211	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999917519911471	0.956
18	6876211	C	A	18	6876212	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.13950854373385E-5	0.05
18	6876211	C	G	18	6876212	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.87967215928912E-4	0.098
18	6876211	C	T	18	6876212	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.95219703869144E-4	0.034
18	6876212	C	A	18	6876213	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.21125624583973E-4	0.07
18	6876212	C	G	18	6876213	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.25814453914516E-5	0.024
18	6876212	C	T	18	6876213	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.27607774100173E-4	0.002
18	6876213	G	A	18	6876214	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.44363087238443E-4	0.028
18	6876213	G	C	18	6876214	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.48457332754457E-4	0.028
18	6876213	G	T	18	6876214	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.49775342989783E-5	0.038
18	6876214	A	C	18	6876215	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.07256548728156E-5	0.0
18	6876214	A	G	18	6876215	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.07256548728156E-5	0.0
18	6876214	A	T	18	6876215	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.07256548728156E-5	0.0
18	6876215	A	C	18	6876216	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.6491761298653E-4	0.0
18	6876215	A	G	18	6876216	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.45710416297044E-4	0.0
18	6876215	A	T	18	6876216	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.38540025387653E-4	0.0
18	6882124	C	A	18	6882125	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.84989198535133E-4	0.12
18	6882124	C	G	18	6882125	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00150359315290026	0.114
18	6882124	C	T	18	6882125	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.85630194606685E-5	0.052
18	6882125	T	A	18	6882126	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999724215729826	0.97
18	6882125	T	C	18	6882126	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.997025202783882	0.62
18	6882125	T	G	18	6882126	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999485758892443	0.886
18	6882126	T	A	18	6882127	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99998055961186	0.97
18	6882126	T	C	18	6882127	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0132863217689234	0.132
18	6882126	T	G	18	6882127	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.976438653681109	0.81
18	6882127	G	A	18	6882128	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00422875401674523	0.152
18	6882127	G	C	18	6882128	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.044180778186411	0.178
18	6882127	G	T	18	6882128	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0162742175781463	0.138
18	6882128	A	C	18	6882129	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.50236637852516E-4	0.04
18	6882128	A	G	18	6882129	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.41887575937587E-4	0.01
18	6882128	A	T	18	6882129	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.18101382721663E-5	0.01
18	6882129	T	A	18	6882130	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0791347658371252	0.246
18	6882129	T	C	18	6882130	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.4409218545533E-4	0.01
18	6882129	T	G	18	6882130	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.9999017749347	0.99
18	6882130	T	A	18	6882131	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.997822502882219	0.88
18	6882130	T	C	18	6882131	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00741316702213762	0.168
18	6882130	T	G	18	6882131	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.998492560913128	0.876
18	6882131	T	A	18	6882132	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.803078577601085	0.664
18	6882131	T	C	18	6882132	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0136662100562342	0.122
18	6882131	T	G	18	6882132	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.88552114690941	0.754
18	6882132	A	C	18	6882133	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.09473245735385E-4	0.196
18	6882132	A	G	18	6882133	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.18113595074145E-4	0.042
18	6882132	A	T	18	6882133	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.75271017092224E-4	0.134
18	6882133	C	A	18	6882134	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999723925709848	0.916
18	6882133	C	G	18	6882134	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999975715155147	0.986
18	6882133	C	T	18	6882134	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.969113956799207	0.396
18	6882134	A	C	18	6882135	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.814-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1291-2A>C;ENST00000400091:exon11:c.1291-2A>C;ENST00000262227:exon11:c.1135-2A>C;ENST00000419673:exon10:c.814-2A>C;ENST00000531294:exon10:c.799-2A>C;ENST00000418986:exon9:c.814-2A>C;ENST00000314319:exon9:c.814-2A>C;ENST00000532996:exon9:c.760-2A>C;ENST00000579689:exon3:c.202-2A>C)	.	.	0.999990764389106	0.942
18	6882134	A	G	18	6882135	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.814-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1291-2A>G;ENST00000400091:exon11:c.1291-2A>G;ENST00000262227:exon11:c.1135-2A>G;ENST00000419673:exon10:c.814-2A>G;ENST00000531294:exon10:c.799-2A>G;ENST00000418986:exon9:c.814-2A>G;ENST00000314319:exon9:c.814-2A>G;ENST00000532996:exon9:c.760-2A>G;ENST00000579689:exon3:c.202-2A>G)	.	.	0.999990764389106	0.942
18	6882134	A	T	18	6882135	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.814-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1291-2A>T;ENST00000400091:exon11:c.1291-2A>T;ENST00000262227:exon11:c.1135-2A>T;ENST00000419673:exon10:c.814-2A>T;ENST00000531294:exon10:c.799-2A>T;ENST00000418986:exon9:c.814-2A>T;ENST00000314319:exon9:c.814-2A>T;ENST00000532996:exon9:c.760-2A>T;ENST00000579689:exon3:c.202-2A>T)	.	.	0.999990764389106	0.942
18	6882135	G	A	18	6882136	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.814-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1291-1G>A;ENST00000400091:exon11:c.1291-1G>A;ENST00000262227:exon11:c.1135-1G>A;ENST00000419673:exon10:c.814-1G>A;ENST00000531294:exon10:c.799-1G>A;ENST00000418986:exon9:c.814-1G>A;ENST00000314319:exon9:c.814-1G>A;ENST00000532996:exon9:c.760-1G>A;ENST00000579689:exon3:c.202-1G>A)	.	.	0.999988630721284	0.94
18	6882135	G	C	18	6882136	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.814-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1291-1G>C;ENST00000400091:exon11:c.1291-1G>C;ENST00000262227:exon11:c.1135-1G>C;ENST00000419673:exon10:c.814-1G>C;ENST00000531294:exon10:c.799-1G>C;ENST00000418986:exon9:c.814-1G>C;ENST00000314319:exon9:c.814-1G>C;ENST00000532996:exon9:c.760-1G>C;ENST00000579689:exon3:c.202-1G>C)	.	.	0.999988630721284	0.94
18	6882135	G	T	18	6882136	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.814-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1291-1G>T;ENST00000400091:exon11:c.1291-1G>T;ENST00000262227:exon11:c.1135-1G>T;ENST00000419673:exon10:c.814-1G>T;ENST00000531294:exon10:c.799-1G>T;ENST00000418986:exon9:c.814-1G>T;ENST00000314319:exon9:c.814-1G>T;ENST00000532996:exon9:c.760-1G>T;ENST00000579689:exon3:c.202-1G>T)	.	.	0.999988630721284	0.94
18	6882136	C	A	18	6882137	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.C814A:p.Q272K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.C814A:p.Q272K;ENSG00000088756:ENST00000314319:exon9:c.C814A:p.Q272K;ENSG00000088756:ENST00000262227:exon11:c.C1135A:p.Q379K;ENSG00000088756:ENST00000532996:exon9:c.C760A:p.Q254K;ENSG00000088756:ENST00000383472:exon11:c.C1291A:p.Q431K;ENSG00000088756:ENST00000531294:exon10:c.C799A:p.Q267K;ENSG00000088756:ENST00000579689:exon3:c.C202A:p.Q68K;ENSG00000088756:ENST00000400091:exon11:c.C1291A:p.Q431K;ENSG00000088756:ENST00000418986:exon9:c.C814A:p.Q272K;	0.947372714800357	0.732
18	6882136	C	G	18	6882137	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.C814G:p.Q272E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.C814G:p.Q272E;ENSG00000088756:ENST00000314319:exon9:c.C814G:p.Q272E;ENSG00000088756:ENST00000262227:exon11:c.C1135G:p.Q379E;ENSG00000088756:ENST00000532996:exon9:c.C760G:p.Q254E;ENSG00000088756:ENST00000383472:exon11:c.C1291G:p.Q431E;ENSG00000088756:ENST00000531294:exon10:c.C799G:p.Q267E;ENSG00000088756:ENST00000579689:exon3:c.C202G:p.Q68E;ENSG00000088756:ENST00000400091:exon11:c.C1291G:p.Q431E;ENSG00000088756:ENST00000418986:exon9:c.C814G:p.Q272E;	0.942130041340488	0.608
18	6882136	C	T	18	6882137	y	y	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon10:c.C814T:p.Q272X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon10:c.C814T:p.Q272X;ENSG00000088756:ENST00000314319:exon9:c.C814T:p.Q272X;ENSG00000088756:ENST00000262227:exon11:c.C1135T:p.Q379X;ENSG00000088756:ENST00000532996:exon9:c.C760T:p.Q254X;ENSG00000088756:ENST00000383472:exon11:c.C1291T:p.Q431X;ENSG00000088756:ENST00000531294:exon10:c.C799T:p.Q267X;ENSG00000088756:ENST00000579689:exon3:c.C202T:p.Q68X;ENSG00000088756:ENST00000400091:exon11:c.C1291T:p.Q431X;ENSG00000088756:ENST00000418986:exon9:c.C814T:p.Q272X;	0.996438199573915	0.938
18	6882137	A	C	18	6882138	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A815C:p.Q272P;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A815C:p.Q272P;ENSG00000088756:ENST00000314319:exon9:c.A815C:p.Q272P;ENSG00000088756:ENST00000262227:exon11:c.A1136C:p.Q379P;ENSG00000088756:ENST00000532996:exon9:c.A761C:p.Q254P;ENSG00000088756:ENST00000383472:exon11:c.A1292C:p.Q431P;ENSG00000088756:ENST00000531294:exon10:c.A800C:p.Q267P;ENSG00000088756:ENST00000579689:exon3:c.A203C:p.Q68P;ENSG00000088756:ENST00000400091:exon11:c.A1292C:p.Q431P;ENSG00000088756:ENST00000418986:exon9:c.A815C:p.Q272P;	0.843835252485399	0.78
18	6882137	A	G	18	6882138	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A815G:p.Q272R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A815G:p.Q272R;ENSG00000088756:ENST00000314319:exon9:c.A815G:p.Q272R;ENSG00000088756:ENST00000262227:exon11:c.A1136G:p.Q379R;ENSG00000088756:ENST00000532996:exon9:c.A761G:p.Q254R;ENSG00000088756:ENST00000383472:exon11:c.A1292G:p.Q431R;ENSG00000088756:ENST00000531294:exon10:c.A800G:p.Q267R;ENSG00000088756:ENST00000579689:exon3:c.A203G:p.Q68R;ENSG00000088756:ENST00000400091:exon11:c.A1292G:p.Q431R;ENSG00000088756:ENST00000418986:exon9:c.A815G:p.Q272R;	0.899365516861027	0.744
18	6882137	A	T	18	6882138	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A815T:p.Q272L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A815T:p.Q272L;ENSG00000088756:ENST00000314319:exon9:c.A815T:p.Q272L;ENSG00000088756:ENST00000262227:exon11:c.A1136T:p.Q379L;ENSG00000088756:ENST00000532996:exon9:c.A761T:p.Q254L;ENSG00000088756:ENST00000383472:exon11:c.A1292T:p.Q431L;ENSG00000088756:ENST00000531294:exon10:c.A800T:p.Q267L;ENSG00000088756:ENST00000579689:exon3:c.A203T:p.Q68L;ENSG00000088756:ENST00000400091:exon11:c.A1292T:p.Q431L;ENSG00000088756:ENST00000418986:exon9:c.A815T:p.Q272L;	0.828202427463945	0.752
18	6882296	A	C	18	6882297	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A974C:p.E325A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A974C:p.E325A;ENSG00000088756:ENST00000314319:exon9:c.A974C:p.E325A;ENSG00000088756:ENST00000262227:exon11:c.A1295C:p.E432A;ENSG00000088756:ENST00000532996:exon9:c.A920C:p.E307A;ENSG00000088756:ENST00000383472:exon11:c.A1451C:p.E484A;ENSG00000088756:ENST00000531294:exon10:c.A959C:p.E320A;ENSG00000088756:ENST00000579689:exon3:c.A362C:p.E121A;ENSG00000088756:ENST00000400091:exon11:c.A1451C:p.E484A;ENSG00000088756:ENST00000418986:exon9:c.A974C:p.E325A;	0.902367533384844	0.772
18	6882296	A	G	18	6882297	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A974G:p.E325G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A974G:p.E325G;ENSG00000088756:ENST00000314319:exon9:c.A974G:p.E325G;ENSG00000088756:ENST00000262227:exon11:c.A1295G:p.E432G;ENSG00000088756:ENST00000532996:exon9:c.A920G:p.E307G;ENSG00000088756:ENST00000383472:exon11:c.A1451G:p.E484G;ENSG00000088756:ENST00000531294:exon10:c.A959G:p.E320G;ENSG00000088756:ENST00000579689:exon3:c.A362G:p.E121G;ENSG00000088756:ENST00000400091:exon11:c.A1451G:p.E484G;ENSG00000088756:ENST00000418986:exon9:c.A974G:p.E325G;	0.445985139207699	0.494
18	6882296	A	T	18	6882297	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A974T:p.E325V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A974T:p.E325V;ENSG00000088756:ENST00000314319:exon9:c.A974T:p.E325V;ENSG00000088756:ENST00000262227:exon11:c.A1295T:p.E432V;ENSG00000088756:ENST00000532996:exon9:c.A920T:p.E307V;ENSG00000088756:ENST00000383472:exon11:c.A1451T:p.E484V;ENSG00000088756:ENST00000531294:exon10:c.A959T:p.E320V;ENSG00000088756:ENST00000579689:exon3:c.A362T:p.E121V;ENSG00000088756:ENST00000400091:exon11:c.A1451T:p.E484V;ENSG00000088756:ENST00000418986:exon9:c.A974T:p.E325V;	0.990172451793765	0.78
18	6882297	A	C	18	6882298	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A975C:p.E325D;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A975C:p.E325D;ENSG00000088756:ENST00000314319:exon9:c.A975C:p.E325D;ENSG00000088756:ENST00000262227:exon11:c.A1296C:p.E432D;ENSG00000088756:ENST00000532996:exon9:c.A921C:p.E307D;ENSG00000088756:ENST00000383472:exon11:c.A1452C:p.E484D;ENSG00000088756:ENST00000531294:exon10:c.A960C:p.E320D;ENSG00000088756:ENST00000579689:exon3:c.A363C:p.E121D;ENSG00000088756:ENST00000400091:exon11:c.A1452C:p.E484D;ENSG00000088756:ENST00000418986:exon9:c.A975C:p.E325D;	0.999834542433392	0.97
18	6882297	A	G	18	6882298	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon10:c.A975G:p.E325E;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A975G:p.E325E;ENSG00000088756:ENST00000314319:exon9:c.A975G:p.E325E;ENSG00000088756:ENST00000262227:exon11:c.A1296G:p.E432E;ENSG00000088756:ENST00000532996:exon9:c.A921G:p.E307E;ENSG00000088756:ENST00000383472:exon11:c.A1452G:p.E484E;ENSG00000088756:ENST00000531294:exon10:c.A960G:p.E320E;ENSG00000088756:ENST00000579689:exon3:c.A363G:p.E121E;ENSG00000088756:ENST00000400091:exon11:c.A1452G:p.E484E;ENSG00000088756:ENST00000418986:exon9:c.A975G:p.E325E;	0.998825207186902	0.928
18	6882297	A	T	18	6882298	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A975T:p.E325D;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A975T:p.E325D;ENSG00000088756:ENST00000314319:exon9:c.A975T:p.E325D;ENSG00000088756:ENST00000262227:exon11:c.A1296T:p.E432D;ENSG00000088756:ENST00000532996:exon9:c.A921T:p.E307D;ENSG00000088756:ENST00000383472:exon11:c.A1452T:p.E484D;ENSG00000088756:ENST00000531294:exon10:c.A960T:p.E320D;ENSG00000088756:ENST00000579689:exon3:c.A363T:p.E121D;ENSG00000088756:ENST00000400091:exon11:c.A1452T:p.E484D;ENSG00000088756:ENST00000418986:exon9:c.A975T:p.E325D;	0.999934645772837	1.0
18	6882298	A	C	18	6882299	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon10:c.A976C:p.R326R;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A976C:p.R326R;ENSG00000088756:ENST00000314319:exon9:c.A976C:p.R326R;ENSG00000088756:ENST00000262227:exon11:c.A1297C:p.R433R;ENSG00000088756:ENST00000532996:exon9:c.A922C:p.R308R;ENSG00000088756:ENST00000383472:exon11:c.A1453C:p.R485R;ENSG00000088756:ENST00000531294:exon10:c.A961C:p.R321R;ENSG00000088756:ENST00000579689:exon3:c.A364C:p.R122R;ENSG00000088756:ENST00000400091:exon11:c.A1453C:p.R485R;ENSG00000088756:ENST00000418986:exon9:c.A976C:p.R326R;	0.104073577486163	0.412
18	6882298	A	G	18	6882299	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon10:c.A976G:p.R326G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon10:c.A976G:p.R326G;ENSG00000088756:ENST00000314319:exon9:c.A976G:p.R326G;ENSG00000088756:ENST00000262227:exon11:c.A1297G:p.R433G;ENSG00000088756:ENST00000532996:exon9:c.A922G:p.R308G;ENSG00000088756:ENST00000383472:exon11:c.A1453G:p.R485G;ENSG00000088756:ENST00000531294:exon10:c.A961G:p.R321G;ENSG00000088756:ENST00000579689:exon3:c.A364G:p.R122G;ENSG00000088756:ENST00000400091:exon11:c.A1453G:p.R485G;ENSG00000088756:ENST00000418986:exon9:c.A976G:p.R326G;	0.00103849128714416	0.056
18	6882298	A	T	18	6882299	y	y	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon10:c.A976T:p.R326X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon10:c.A976T:p.R326X;ENSG00000088756:ENST00000314319:exon9:c.A976T:p.R326X;ENSG00000088756:ENST00000262227:exon11:c.A1297T:p.R433X;ENSG00000088756:ENST00000532996:exon9:c.A922T:p.R308X;ENSG00000088756:ENST00000383472:exon11:c.A1453T:p.R485X;ENSG00000088756:ENST00000531294:exon10:c.A961T:p.R321X;ENSG00000088756:ENST00000579689:exon3:c.A364T:p.R122X;ENSG00000088756:ENST00000400091:exon11:c.A1453T:p.R485X;ENSG00000088756:ENST00000418986:exon9:c.A976T:p.R326X;	0.936998519195951	0.642
18	6882299	G	A	18	6882300	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.976+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1453+1G>A;ENST00000400091:exon11:c.1453+1G>A;ENST00000262227:exon11:c.1297+1G>A;ENST00000419673:exon10:c.976+1G>A;ENST00000531294:exon10:c.961+1G>A;ENST00000418986:exon9:c.976+1G>A;ENST00000314319:exon9:c.976+1G>A;ENST00000532996:exon9:c.922+1G>A;ENST00000579689:exon3:c.364+1G>A)	.	.	0.999989125585301	0.942
18	6882299	G	C	18	6882300	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.976+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1453+1G>C;ENST00000400091:exon11:c.1453+1G>C;ENST00000262227:exon11:c.1297+1G>C;ENST00000419673:exon10:c.976+1G>C;ENST00000531294:exon10:c.961+1G>C;ENST00000418986:exon9:c.976+1G>C;ENST00000314319:exon9:c.976+1G>C;ENST00000532996:exon9:c.922+1G>C;ENST00000579689:exon3:c.364+1G>C)	.	.	0.999989125585301	0.942
18	6882299	G	T	18	6882300	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.976+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1453+1G>T;ENST00000400091:exon11:c.1453+1G>T;ENST00000262227:exon11:c.1297+1G>T;ENST00000419673:exon10:c.976+1G>T;ENST00000531294:exon10:c.961+1G>T;ENST00000418986:exon9:c.976+1G>T;ENST00000314319:exon9:c.976+1G>T;ENST00000532996:exon9:c.922+1G>T;ENST00000579689:exon3:c.364+1G>T)	.	.	0.999989125585301	0.942
18	6882300	T	A	18	6882301	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.976+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1453+2T>A;ENST00000400091:exon11:c.1453+2T>A;ENST00000262227:exon11:c.1297+2T>A;ENST00000419673:exon10:c.976+2T>A;ENST00000531294:exon10:c.961+2T>A;ENST00000418986:exon9:c.976+2T>A;ENST00000314319:exon9:c.976+2T>A;ENST00000532996:exon9:c.922+2T>A;ENST00000579689:exon3:c.364+2T>A)	.	.	0.999986741007567	0.946
18	6882300	T	C	18	6882301	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.976+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1453+2T>C;ENST00000400091:exon11:c.1453+2T>C;ENST00000262227:exon11:c.1297+2T>C;ENST00000419673:exon10:c.976+2T>C;ENST00000531294:exon10:c.961+2T>C;ENST00000418986:exon9:c.976+2T>C;ENST00000314319:exon9:c.976+2T>C;ENST00000532996:exon9:c.922+2T>C;ENST00000579689:exon3:c.364+2T>C)	.	.	0.985945734208409	0.672
18	6882300	T	G	18	6882301	y	y	splicing	ARHGAP28(NM_001010000:exon10:c.976+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon11:c.1453+2T>G;ENST00000400091:exon11:c.1453+2T>G;ENST00000262227:exon11:c.1297+2T>G;ENST00000419673:exon10:c.976+2T>G;ENST00000531294:exon10:c.961+2T>G;ENST00000418986:exon9:c.976+2T>G;ENST00000314319:exon9:c.976+2T>G;ENST00000532996:exon9:c.922+2T>G;ENST00000579689:exon3:c.364+2T>G)	.	.	0.999986741007567	0.946
18	6882301	A	C	18	6882302	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999851382092808	0.966
18	6882301	A	G	18	6882302	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.998075105032678	0.952
18	6882301	A	T	18	6882302	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999412740708562	0.976
18	6882302	G	A	18	6882303	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.23264310177486E-5	0.014
18	6882302	G	C	18	6882303	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.24111680889084E-5	0.022
18	6882302	G	T	18	6882303	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.24111680889084E-5	0.006
18	6882303	G	A	18	6882304	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999980074836711	1.0
18	6882303	G	C	18	6882304	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999980656708992	0.964
18	6882303	G	T	18	6882304	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999980074836711	0.986
18	6882304	T	A	18	6882305	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.987529901079	0.762
18	6882304	T	C	18	6882305	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.967204617897231	0.774
18	6882304	T	G	18	6882305	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99262506795199	0.852
18	6882305	G	A	18	6882306	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.01959560995437E-5	0.0
18	6882305	G	C	18	6882306	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.95190687619851E-5	0.0
18	6882305	G	T	18	6882306	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.37916624535458E-5	0.0
18	6882306	G	A	18	6882307	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.31731516150907E-4	0.004
18	6882306	G	C	18	6882307	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.69701622611847E-4	0.008
18	6882306	G	T	18	6882307	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.69701622611847E-4	0.008
18	6887144	T	A	18	6887145	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.73569550117524	0.672
18	6887144	T	C	18	6887145	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00573233618016394	0.092
18	6887144	T	G	18	6887145	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.393913569855	0.618
18	6887145	T	A	18	6887146	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.863652764604637	0.65
18	6887145	T	C	18	6887146	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.176906406757973	0.276
18	6887145	T	G	18	6887146	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.821900400974462	0.54
18	6887146	T	A	18	6887147	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.34736705278325	0.496
18	6887146	T	C	18	6887147	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00339762080507205	0.082
18	6887146	T	G	18	6887147	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.430465031198268	0.43
18	6887147	T	A	18	6887148	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.318236091765213	0.492
18	6887147	T	C	18	6887148	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.57836451356071E-6	0.026
18	6887147	T	G	18	6887148	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0849618471758288	0.31
18	6887148	C	A	18	6887149	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00595023642477946	0.188
18	6887148	C	G	18	6887149	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00286701110917574	0.154
18	6887148	C	T	18	6887149	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00108523634998363	0.024
18	6887149	T	A	18	6887150	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00382951192346673	0.134
18	6887149	T	C	18	6887150	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.58963517307584E-5	0.006
18	6887149	T	G	18	6887150	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00132127760917702	0.138
18	6887150	T	A	18	6887151	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999510990839166	0.924
18	6887150	T	C	18	6887151	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.92876676121304E-4	0.042
18	6887150	T	G	18	6887151	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.127691922772896	0.312
18	6887151	G	A	18	6887152	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.17954750590324E-5	0.0
18	6887151	G	C	18	6887152	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.21301126718698E-4	0.014
18	6887151	G	T	18	6887152	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.22475117916191E-4	0.03
18	6887152	T	A	18	6887153	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.00897552176109E-4	0.022
18	6887152	T	C	18	6887153	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00106421399837671	0.04
18	6887152	T	G	18	6887153	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00374720090411336	0.042
18	6887153	T	A	18	6887154	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00728250806154195	0.286
18	6887153	T	C	18	6887154	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.15806012768734E-5	0.02
18	6887153	T	G	18	6887154	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.781657256491951	0.62
18	6887154	A	C	18	6887155	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.977-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1454-2A>C;ENST00000400091:exon12:c.1454-2A>C;ENST00000262227:exon12:c.1298-2A>C;ENST00000419673:exon11:c.977-2A>C;ENST00000531294:exon11:c.962-2A>C;ENST00000418986:exon10:c.977-2A>C;ENST00000314319:exon10:c.977-2A>C;ENST00000532996:exon10:c.923-2A>C;ENST00000579689:exon4:c.365-2A>C)	.	.	0.999992446697775	0.928
18	6887154	A	G	18	6887155	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.977-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1454-2A>G;ENST00000400091:exon12:c.1454-2A>G;ENST00000262227:exon12:c.1298-2A>G;ENST00000419673:exon11:c.977-2A>G;ENST00000531294:exon11:c.962-2A>G;ENST00000418986:exon10:c.977-2A>G;ENST00000314319:exon10:c.977-2A>G;ENST00000532996:exon10:c.923-2A>G;ENST00000579689:exon4:c.365-2A>G)	.	.	0.999992446697775	0.928
18	6887154	A	T	18	6887155	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.977-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1454-2A>T;ENST00000400091:exon12:c.1454-2A>T;ENST00000262227:exon12:c.1298-2A>T;ENST00000419673:exon11:c.977-2A>T;ENST00000531294:exon11:c.962-2A>T;ENST00000418986:exon10:c.977-2A>T;ENST00000314319:exon10:c.977-2A>T;ENST00000532996:exon10:c.923-2A>T;ENST00000579689:exon4:c.365-2A>T)	.	.	0.999992446697775	0.928
18	6887155	G	A	18	6887156	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.977-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1454-1G>A;ENST00000400091:exon12:c.1454-1G>A;ENST00000262227:exon12:c.1298-1G>A;ENST00000419673:exon11:c.977-1G>A;ENST00000531294:exon11:c.962-1G>A;ENST00000418986:exon10:c.977-1G>A;ENST00000314319:exon10:c.977-1G>A;ENST00000532996:exon10:c.923-1G>A;ENST00000579689:exon4:c.365-1G>A)	.	.	0.999988247793601	0.924
18	6887155	G	C	18	6887156	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.977-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1454-1G>C;ENST00000400091:exon12:c.1454-1G>C;ENST00000262227:exon12:c.1298-1G>C;ENST00000419673:exon11:c.977-1G>C;ENST00000531294:exon11:c.962-1G>C;ENST00000418986:exon10:c.977-1G>C;ENST00000314319:exon10:c.977-1G>C;ENST00000532996:exon10:c.923-1G>C;ENST00000579689:exon4:c.365-1G>C)	.	.	0.999988247793601	0.924
18	6887155	G	T	18	6887156	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.977-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1454-1G>T;ENST00000400091:exon12:c.1454-1G>T;ENST00000262227:exon12:c.1298-1G>T;ENST00000419673:exon11:c.977-1G>T;ENST00000531294:exon11:c.962-1G>T;ENST00000418986:exon10:c.977-1G>T;ENST00000314319:exon10:c.977-1G>T;ENST00000532996:exon10:c.923-1G>T;ENST00000579689:exon4:c.365-1G>T)	.	.	0.999988247793601	0.924
18	6887156	G	A	18	6887157	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.G977A:p.R326K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.G977A:p.R326K;ENSG00000088756:ENST00000314319:exon10:c.G977A:p.R326K;ENSG00000088756:ENST00000262227:exon12:c.G1298A:p.R433K;ENSG00000088756:ENST00000532996:exon10:c.G923A:p.R308K;ENSG00000088756:ENST00000383472:exon12:c.G1454A:p.R485K;ENSG00000088756:ENST00000531294:exon11:c.G962A:p.R321K;ENSG00000088756:ENST00000579689:exon4:c.G365A:p.R122K;ENSG00000088756:ENST00000400091:exon12:c.G1454A:p.R485K;ENSG00000088756:ENST00000418986:exon10:c.G977A:p.R326K;	0.117624025652465	0.488
18	6887156	G	C	18	6887157	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.G977C:p.R326T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.G977C:p.R326T;ENSG00000088756:ENST00000314319:exon10:c.G977C:p.R326T;ENSG00000088756:ENST00000262227:exon12:c.G1298C:p.R433T;ENSG00000088756:ENST00000532996:exon10:c.G923C:p.R308T;ENSG00000088756:ENST00000383472:exon12:c.G1454C:p.R485T;ENSG00000088756:ENST00000531294:exon11:c.G962C:p.R321T;ENSG00000088756:ENST00000579689:exon4:c.G365C:p.R122T;ENSG00000088756:ENST00000400091:exon12:c.G1454C:p.R485T;ENSG00000088756:ENST00000418986:exon10:c.G977C:p.R326T;	0.797126076160693	0.59
18	6887156	G	T	18	6887157	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.G977T:p.R326I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.G977T:p.R326I;ENSG00000088756:ENST00000314319:exon10:c.G977T:p.R326I;ENSG00000088756:ENST00000262227:exon12:c.G1298T:p.R433I;ENSG00000088756:ENST00000532996:exon10:c.G923T:p.R308I;ENSG00000088756:ENST00000383472:exon12:c.G1454T:p.R485I;ENSG00000088756:ENST00000531294:exon11:c.G962T:p.R321I;ENSG00000088756:ENST00000579689:exon4:c.G365T:p.R122I;ENSG00000088756:ENST00000400091:exon12:c.G1454T:p.R485I;ENSG00000088756:ENST00000418986:exon10:c.G977T:p.R326I;	0.997586708373313	0.878
18	6887157	A	C	18	6887158	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.A978C:p.R326S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.A978C:p.R326S;ENSG00000088756:ENST00000314319:exon10:c.A978C:p.R326S;ENSG00000088756:ENST00000262227:exon12:c.A1299C:p.R433S;ENSG00000088756:ENST00000532996:exon10:c.A924C:p.R308S;ENSG00000088756:ENST00000383472:exon12:c.A1455C:p.R485S;ENSG00000088756:ENST00000531294:exon11:c.A963C:p.R321S;ENSG00000088756:ENST00000579689:exon4:c.A366C:p.R122S;ENSG00000088756:ENST00000400091:exon12:c.A1455C:p.R485S;ENSG00000088756:ENST00000418986:exon10:c.A978C:p.R326S;	0.00703443056943384	0.038
18	6887157	A	G	18	6887158	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon11:c.A978G:p.R326R;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.A978G:p.R326R;ENSG00000088756:ENST00000314319:exon10:c.A978G:p.R326R;ENSG00000088756:ENST00000262227:exon12:c.A1299G:p.R433R;ENSG00000088756:ENST00000532996:exon10:c.A924G:p.R308R;ENSG00000088756:ENST00000383472:exon12:c.A1455G:p.R485R;ENSG00000088756:ENST00000531294:exon11:c.A963G:p.R321R;ENSG00000088756:ENST00000579689:exon4:c.A366G:p.R122R;ENSG00000088756:ENST00000400091:exon12:c.A1455G:p.R485R;ENSG00000088756:ENST00000418986:exon10:c.A978G:p.R326R;	0.189505299618413	0.434
18	6887157	A	T	18	6887158	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.A978T:p.R326S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.A978T:p.R326S;ENSG00000088756:ENST00000314319:exon10:c.A978T:p.R326S;ENSG00000088756:ENST00000262227:exon12:c.A1299T:p.R433S;ENSG00000088756:ENST00000532996:exon10:c.A924T:p.R308S;ENSG00000088756:ENST00000383472:exon12:c.A1455T:p.R485S;ENSG00000088756:ENST00000531294:exon11:c.A963T:p.R321S;ENSG00000088756:ENST00000579689:exon4:c.A366T:p.R122S;ENSG00000088756:ENST00000400091:exon12:c.A1455T:p.R485S;ENSG00000088756:ENST00000418986:exon10:c.A978T:p.R326S;	0.0056159427248396	0.028
18	6887236	C	A	18	6887237	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.C1057A:p.Q353K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.C1057A:p.Q353K;ENSG00000088756:ENST00000314319:exon10:c.C1057A:p.Q353K;ENSG00000088756:ENST00000262227:exon12:c.C1378A:p.Q460K;ENSG00000088756:ENST00000532996:exon10:c.C1003A:p.Q335K;ENSG00000088756:ENST00000383472:exon12:c.C1534A:p.Q512K;ENSG00000088756:ENST00000531294:exon11:c.C1042A:p.Q348K;ENSG00000088756:ENST00000579689:exon4:c.C445A:p.Q149K;ENSG00000088756:ENST00000400091:exon12:c.C1534A:p.Q512K;ENSG00000088756:ENST00000418986:exon10:c.C1057A:p.Q353K;	1.06851103011772E-5	0.144
18	6887236	C	G	18	6887237	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.C1057G:p.Q353E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.C1057G:p.Q353E;ENSG00000088756:ENST00000314319:exon10:c.C1057G:p.Q353E;ENSG00000088756:ENST00000262227:exon12:c.C1378G:p.Q460E;ENSG00000088756:ENST00000532996:exon10:c.C1003G:p.Q335E;ENSG00000088756:ENST00000383472:exon12:c.C1534G:p.Q512E;ENSG00000088756:ENST00000531294:exon11:c.C1042G:p.Q348E;ENSG00000088756:ENST00000579689:exon4:c.C445G:p.Q149E;ENSG00000088756:ENST00000400091:exon12:c.C1534G:p.Q512E;ENSG00000088756:ENST00000418986:exon10:c.C1057G:p.Q353E;	9.74310737983188E-5	0.156
18	6887236	C	T	18	6887237	y	y	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon11:c.C1057T:p.Q353X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon11:c.C1057T:p.Q353X;ENSG00000088756:ENST00000314319:exon10:c.C1057T:p.Q353X;ENSG00000088756:ENST00000262227:exon12:c.C1378T:p.Q460X;ENSG00000088756:ENST00000532996:exon10:c.C1003T:p.Q335X;ENSG00000088756:ENST00000383472:exon12:c.C1534T:p.Q512X;ENSG00000088756:ENST00000531294:exon11:c.C1042T:p.Q348X;ENSG00000088756:ENST00000579689:exon4:c.C445T:p.Q149X;ENSG00000088756:ENST00000400091:exon12:c.C1534T:p.Q512X;ENSG00000088756:ENST00000418986:exon10:c.C1057T:p.Q353X;	0.554298126557004	0.52
18	6887237	A	C	18	6887238	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.A1058C:p.Q353P;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.A1058C:p.Q353P;ENSG00000088756:ENST00000314319:exon10:c.A1058C:p.Q353P;ENSG00000088756:ENST00000262227:exon12:c.A1379C:p.Q460P;ENSG00000088756:ENST00000532996:exon10:c.A1004C:p.Q335P;ENSG00000088756:ENST00000383472:exon12:c.A1535C:p.Q512P;ENSG00000088756:ENST00000531294:exon11:c.A1043C:p.Q348P;ENSG00000088756:ENST00000579689:exon4:c.A446C:p.Q149P;ENSG00000088756:ENST00000400091:exon12:c.A1535C:p.Q512P;ENSG00000088756:ENST00000418986:exon10:c.A1058C:p.Q353P;	0.97404038278007	0.88
18	6887237	A	G	18	6887238	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.A1058G:p.Q353R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.A1058G:p.Q353R;ENSG00000088756:ENST00000314319:exon10:c.A1058G:p.Q353R;ENSG00000088756:ENST00000262227:exon12:c.A1379G:p.Q460R;ENSG00000088756:ENST00000532996:exon10:c.A1004G:p.Q335R;ENSG00000088756:ENST00000383472:exon12:c.A1535G:p.Q512R;ENSG00000088756:ENST00000531294:exon11:c.A1043G:p.Q348R;ENSG00000088756:ENST00000579689:exon4:c.A446G:p.Q149R;ENSG00000088756:ENST00000400091:exon12:c.A1535G:p.Q512R;ENSG00000088756:ENST00000418986:exon10:c.A1058G:p.Q353R;	0.808583749658536	0.682
18	6887237	A	T	18	6887238	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.A1058T:p.Q353L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.A1058T:p.Q353L;ENSG00000088756:ENST00000314319:exon10:c.A1058T:p.Q353L;ENSG00000088756:ENST00000262227:exon12:c.A1379T:p.Q460L;ENSG00000088756:ENST00000532996:exon10:c.A1004T:p.Q335L;ENSG00000088756:ENST00000383472:exon12:c.A1535T:p.Q512L;ENSG00000088756:ENST00000531294:exon11:c.A1043T:p.Q348L;ENSG00000088756:ENST00000579689:exon4:c.A446T:p.Q149L;ENSG00000088756:ENST00000400091:exon12:c.A1535T:p.Q512L;ENSG00000088756:ENST00000418986:exon10:c.A1058T:p.Q353L;	0.975778936422723	0.798
18	6887238	G	A	18	6887239	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon11:c.G1059A:p.Q353Q;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.G1059A:p.Q353Q;ENSG00000088756:ENST00000314319:exon10:c.G1059A:p.Q353Q;ENSG00000088756:ENST00000262227:exon12:c.G1380A:p.Q460Q;ENSG00000088756:ENST00000532996:exon10:c.G1005A:p.Q335Q;ENSG00000088756:ENST00000383472:exon12:c.G1536A:p.Q512Q;ENSG00000088756:ENST00000531294:exon11:c.G1044A:p.Q348Q;ENSG00000088756:ENST00000579689:exon4:c.G447A:p.Q149Q;ENSG00000088756:ENST00000400091:exon12:c.G1536A:p.Q512Q;ENSG00000088756:ENST00000418986:exon10:c.G1059A:p.Q353Q;	0.89656840677292	0.618
18	6887238	G	C	18	6887239	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.G1059C:p.Q353H;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.G1059C:p.Q353H;ENSG00000088756:ENST00000314319:exon10:c.G1059C:p.Q353H;ENSG00000088756:ENST00000262227:exon12:c.G1380C:p.Q460H;ENSG00000088756:ENST00000532996:exon10:c.G1005C:p.Q335H;ENSG00000088756:ENST00000383472:exon12:c.G1536C:p.Q512H;ENSG00000088756:ENST00000531294:exon11:c.G1044C:p.Q348H;ENSG00000088756:ENST00000579689:exon4:c.G447C:p.Q149H;ENSG00000088756:ENST00000400091:exon12:c.G1536C:p.Q512H;ENSG00000088756:ENST00000418986:exon10:c.G1059C:p.Q353H;	0.999913188046323	0.976
18	6887238	G	T	18	6887239	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon11:c.G1059T:p.Q353H;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon11:c.G1059T:p.Q353H;ENSG00000088756:ENST00000314319:exon10:c.G1059T:p.Q353H;ENSG00000088756:ENST00000262227:exon12:c.G1380T:p.Q460H;ENSG00000088756:ENST00000532996:exon10:c.G1005T:p.Q335H;ENSG00000088756:ENST00000383472:exon12:c.G1536T:p.Q512H;ENSG00000088756:ENST00000531294:exon11:c.G1044T:p.Q348H;ENSG00000088756:ENST00000579689:exon4:c.G447T:p.Q149H;ENSG00000088756:ENST00000400091:exon12:c.G1536T:p.Q512H;ENSG00000088756:ENST00000418986:exon10:c.G1059T:p.Q353H;	0.999812661513786	0.962
18	6887239	G	A	18	6887240	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.1059+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1536+1G>A;ENST00000400091:exon12:c.1536+1G>A;ENST00000262227:exon12:c.1380+1G>A;ENST00000419673:exon11:c.1059+1G>A;ENST00000531294:exon11:c.1044+1G>A;ENST00000418986:exon10:c.1059+1G>A;ENST00000314319:exon10:c.1059+1G>A;ENST00000532996:exon10:c.1005+1G>A;ENST00000579689:exon4:c.447+1G>A)	.	.	0.999963671976247	0.924
18	6887239	G	C	18	6887240	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.1059+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1536+1G>C;ENST00000400091:exon12:c.1536+1G>C;ENST00000262227:exon12:c.1380+1G>C;ENST00000419673:exon11:c.1059+1G>C;ENST00000531294:exon11:c.1044+1G>C;ENST00000418986:exon10:c.1059+1G>C;ENST00000314319:exon10:c.1059+1G>C;ENST00000532996:exon10:c.1005+1G>C;ENST00000579689:exon4:c.447+1G>C)	.	.	0.999971317418422	0.902
18	6887239	G	T	18	6887240	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.1059+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1536+1G>T;ENST00000400091:exon12:c.1536+1G>T;ENST00000262227:exon12:c.1380+1G>T;ENST00000419673:exon11:c.1059+1G>T;ENST00000531294:exon11:c.1044+1G>T;ENST00000418986:exon10:c.1059+1G>T;ENST00000314319:exon10:c.1059+1G>T;ENST00000532996:exon10:c.1005+1G>T;ENST00000579689:exon4:c.447+1G>T)	.	.	0.999951957019574	0.9
18	6887240	T	A	18	6887241	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.1059+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1536+2T>A;ENST00000400091:exon12:c.1536+2T>A;ENST00000262227:exon12:c.1380+2T>A;ENST00000419673:exon11:c.1059+2T>A;ENST00000531294:exon11:c.1044+2T>A;ENST00000418986:exon10:c.1059+2T>A;ENST00000314319:exon10:c.1059+2T>A;ENST00000532996:exon10:c.1005+2T>A;ENST00000579689:exon4:c.447+2T>A)	.	.	0.999974729200583	0.886
18	6887240	T	C	18	6887241	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.1059+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1536+2T>C;ENST00000400091:exon12:c.1536+2T>C;ENST00000262227:exon12:c.1380+2T>C;ENST00000419673:exon11:c.1059+2T>C;ENST00000531294:exon11:c.1044+2T>C;ENST00000418986:exon10:c.1059+2T>C;ENST00000314319:exon10:c.1059+2T>C;ENST00000532996:exon10:c.1005+2T>C;ENST00000579689:exon4:c.447+2T>C)	.	.	0.977174658083979	0.56
18	6887240	T	G	18	6887241	y	y	splicing	ARHGAP28(NM_001010000:exon11:c.1059+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon12:c.1536+2T>G;ENST00000400091:exon12:c.1536+2T>G;ENST00000262227:exon12:c.1380+2T>G;ENST00000419673:exon11:c.1059+2T>G;ENST00000531294:exon11:c.1044+2T>G;ENST00000418986:exon10:c.1059+2T>G;ENST00000314319:exon10:c.1059+2T>G;ENST00000532996:exon10:c.1005+2T>G;ENST00000579689:exon4:c.447+2T>G)	.	.	0.99998491298609	0.892
18	6887241	A	C	18	6887242	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.9743554142111	0.668
18	6887241	A	G	18	6887242	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0692955724051665	0.292
18	6887241	A	T	18	6887242	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.896575165127173	0.58
18	6887242	C	A	18	6887243	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.25581603869822E-5	0.064
18	6887242	C	G	18	6887243	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.51935912294024E-5	0.012
18	6887242	C	T	18	6887243	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.06191923004579E-5	0.006
18	6887243	G	A	18	6887244	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.988303252577239	0.576
18	6887243	G	C	18	6887244	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.94374203250253	0.556
18	6887243	G	T	18	6887244	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.962993395814444	0.582
18	6887244	T	A	18	6887245	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0431541453611458	0.202
18	6887244	T	C	18	6887245	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0556430158374499	0.292
18	6887244	T	G	18	6887245	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00182121104021305	0.158
18	6887245	C	A	18	6887246	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.7586829694842E-5	0.0
18	6887245	C	G	18	6887246	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.18900795673043E-5	0.0
18	6887245	C	T	18	6887246	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.33105514492912E-5	0.002
18	6887246	G	A	18	6887247	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.95815540499835E-5	0.0
18	6887246	G	C	18	6887247	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.81474896170976E-5	0.0
18	6887246	G	T	18	6887247	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.95815540499835E-5	0.0
18	6889875	G	A	18	6889876	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00139969501845771	0.056
18	6889875	G	C	18	6889876	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.3732721440136E-4	0.0
18	6889875	G	T	18	6889876	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.33081816256593E-4	0.002
18	6889876	T	A	18	6889877	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.077264581457335	0.43
18	6889876	T	C	18	6889877	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0356562189479387	0.236
18	6889876	T	G	18	6889877	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0461864219367566	0.354
18	6889877	T	A	18	6889878	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00222009121587874	0.092
18	6889877	T	C	18	6889878	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.56360593834455E-5	0.008
18	6889877	T	G	18	6889878	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.10643526043027E-4	0.13
18	6889878	T	A	18	6889879	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.436746368050882	0.424
18	6889878	T	C	18	6889879	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0128733613128634	0.092
18	6889878	T	G	18	6889879	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.203913985948027	0.336
18	6889879	C	A	18	6889880	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0681677047531415	0.164
18	6889879	C	G	18	6889880	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00287877113109164	0.174
18	6889879	C	T	18	6889880	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.0810057185783E-4	0.084
18	6889880	T	A	18	6889881	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.27215441593257E-4	0.03
18	6889880	T	C	18	6889881	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.57684899713927E-5	0.0
18	6889880	T	G	18	6889881	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.43274635675818E-4	0.034
18	6889881	T	A	18	6889882	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0116225695815611	0.048
18	6889881	T	C	18	6889882	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.28420207043203E-4	0.0
18	6889881	T	G	18	6889882	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00430749412220748	0.082
18	6889882	C	A	18	6889883	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00129965327016902	0.044
18	6889882	C	G	18	6889883	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00285426798317734	0.116
18	6889882	C	T	18	6889883	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.7298656402456E-5	0.0
18	6889883	T	A	18	6889884	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.47196452145316E-5	0.006
18	6889883	T	C	18	6889884	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.37940758501115E-5	0.002
18	6889883	T	G	18	6889884	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.54429151172436E-4	0.008
18	6889884	T	A	18	6889885	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00100704999709068	0.148
18	6889884	T	C	18	6889885	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.86600413127189E-5	0.002
18	6889884	T	G	18	6889885	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.9030520983536	0.676
18	6889885	A	C	18	6889886	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1060-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1537-2A>C;ENST00000400091:exon13:c.1537-2A>C;ENST00000262227:exon13:c.1381-2A>C;ENST00000419673:exon12:c.1060-2A>C;ENST00000531294:exon12:c.1045-2A>C;ENST00000418986:exon11:c.1060-2A>C;ENST00000314319:exon11:c.1060-2A>C;ENST00000532996:exon11:c.1006-2A>C;ENST00000579689:exon5:c.448-2A>C)	.	.	0.999988247793601	0.93
18	6889885	A	G	18	6889886	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1060-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1537-2A>G;ENST00000400091:exon13:c.1537-2A>G;ENST00000262227:exon13:c.1381-2A>G;ENST00000419673:exon12:c.1060-2A>G;ENST00000531294:exon12:c.1045-2A>G;ENST00000418986:exon11:c.1060-2A>G;ENST00000314319:exon11:c.1060-2A>G;ENST00000532996:exon11:c.1006-2A>G;ENST00000579689:exon5:c.448-2A>G)	.	.	0.999988247793601	0.93
18	6889885	A	T	18	6889886	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1060-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1537-2A>T;ENST00000400091:exon13:c.1537-2A>T;ENST00000262227:exon13:c.1381-2A>T;ENST00000419673:exon12:c.1060-2A>T;ENST00000531294:exon12:c.1045-2A>T;ENST00000418986:exon11:c.1060-2A>T;ENST00000314319:exon11:c.1060-2A>T;ENST00000532996:exon11:c.1006-2A>T;ENST00000579689:exon5:c.448-2A>T)	.	.	0.999988247793601	0.93
18	6889886	G	A	18	6889887	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1060-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1537-1G>A;ENST00000400091:exon13:c.1537-1G>A;ENST00000262227:exon13:c.1381-1G>A;ENST00000419673:exon12:c.1060-1G>A;ENST00000531294:exon12:c.1045-1G>A;ENST00000418986:exon11:c.1060-1G>A;ENST00000314319:exon11:c.1060-1G>A;ENST00000532996:exon11:c.1006-1G>A;ENST00000579689:exon5:c.448-1G>A)	.	.	0.999990361384395	0.938
18	6889886	G	C	18	6889887	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1060-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1537-1G>C;ENST00000400091:exon13:c.1537-1G>C;ENST00000262227:exon13:c.1381-1G>C;ENST00000419673:exon12:c.1060-1G>C;ENST00000531294:exon12:c.1045-1G>C;ENST00000418986:exon11:c.1060-1G>C;ENST00000314319:exon11:c.1060-1G>C;ENST00000532996:exon11:c.1006-1G>C;ENST00000579689:exon5:c.448-1G>C)	.	.	0.999990361384395	0.938
18	6889886	G	T	18	6889887	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1060-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1537-1G>T;ENST00000400091:exon13:c.1537-1G>T;ENST00000262227:exon13:c.1381-1G>T;ENST00000419673:exon12:c.1060-1G>T;ENST00000531294:exon12:c.1045-1G>T;ENST00000418986:exon11:c.1060-1G>T;ENST00000314319:exon11:c.1060-1G>T;ENST00000532996:exon11:c.1006-1G>T;ENST00000579689:exon5:c.448-1G>T)	.	.	0.999990361384395	0.938
18	6889887	G	A	18	6889888	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.G1060A:p.A354T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.G1060A:p.A354T;ENSG00000088756:ENST00000314319:exon11:c.G1060A:p.A354T;ENSG00000088756:ENST00000262227:exon13:c.G1381A:p.A461T;ENSG00000088756:ENST00000532996:exon11:c.G1006A:p.A336T;ENSG00000088756:ENST00000383472:exon13:c.G1537A:p.A513T;ENSG00000088756:ENST00000531294:exon12:c.G1045A:p.A349T;ENSG00000088756:ENST00000579689:exon5:c.G448A:p.A150T;ENSG00000088756:ENST00000400091:exon13:c.G1537A:p.A513T;ENSG00000088756:ENST00000418986:exon11:c.G1060A:p.A354T;	0.999139017345018	0.914
18	6889887	G	C	18	6889888	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.G1060C:p.A354P;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.G1060C:p.A354P;ENSG00000088756:ENST00000314319:exon11:c.G1060C:p.A354P;ENSG00000088756:ENST00000262227:exon13:c.G1381C:p.A461P;ENSG00000088756:ENST00000532996:exon11:c.G1006C:p.A336P;ENSG00000088756:ENST00000383472:exon13:c.G1537C:p.A513P;ENSG00000088756:ENST00000531294:exon12:c.G1045C:p.A349P;ENSG00000088756:ENST00000579689:exon5:c.G448C:p.A150P;ENSG00000088756:ENST00000400091:exon13:c.G1537C:p.A513P;ENSG00000088756:ENST00000418986:exon11:c.G1060C:p.A354P;	0.99987486401132	0.988
18	6889887	G	T	18	6889888	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.G1060T:p.A354S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.G1060T:p.A354S;ENSG00000088756:ENST00000314319:exon11:c.G1060T:p.A354S;ENSG00000088756:ENST00000262227:exon13:c.G1381T:p.A461S;ENSG00000088756:ENST00000532996:exon11:c.G1006T:p.A336S;ENSG00000088756:ENST00000383472:exon13:c.G1537T:p.A513S;ENSG00000088756:ENST00000531294:exon12:c.G1045T:p.A349S;ENSG00000088756:ENST00000579689:exon5:c.G448T:p.A150S;ENSG00000088756:ENST00000400091:exon13:c.G1537T:p.A513S;ENSG00000088756:ENST00000418986:exon11:c.G1060T:p.A354S;	0.999883394829449	0.994
18	6889888	C	A	18	6889889	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.C1061A:p.A354D;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.C1061A:p.A354D;ENSG00000088756:ENST00000314319:exon11:c.C1061A:p.A354D;ENSG00000088756:ENST00000262227:exon13:c.C1382A:p.A461D;ENSG00000088756:ENST00000532996:exon11:c.C1007A:p.A336D;ENSG00000088756:ENST00000383472:exon13:c.C1538A:p.A513D;ENSG00000088756:ENST00000531294:exon12:c.C1046A:p.A349D;ENSG00000088756:ENST00000579689:exon5:c.C449A:p.A150D;ENSG00000088756:ENST00000400091:exon13:c.C1538A:p.A513D;ENSG00000088756:ENST00000418986:exon11:c.C1061A:p.A354D;	0.202206691287811	0.492
18	6889888	C	G	18	6889889	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.C1061G:p.A354G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.C1061G:p.A354G;ENSG00000088756:ENST00000314319:exon11:c.C1061G:p.A354G;ENSG00000088756:ENST00000262227:exon13:c.C1382G:p.A461G;ENSG00000088756:ENST00000532996:exon11:c.C1007G:p.A336G;ENSG00000088756:ENST00000383472:exon13:c.C1538G:p.A513G;ENSG00000088756:ENST00000531294:exon12:c.C1046G:p.A349G;ENSG00000088756:ENST00000579689:exon5:c.C449G:p.A150G;ENSG00000088756:ENST00000400091:exon13:c.C1538G:p.A513G;ENSG00000088756:ENST00000418986:exon11:c.C1061G:p.A354G;	0.291602707159986	0.472
18	6889888	C	T	18	6889889	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.C1061T:p.A354V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.C1061T:p.A354V;ENSG00000088756:ENST00000314319:exon11:c.C1061T:p.A354V;ENSG00000088756:ENST00000262227:exon13:c.C1382T:p.A461V;ENSG00000088756:ENST00000532996:exon11:c.C1007T:p.A336V;ENSG00000088756:ENST00000383472:exon13:c.C1538T:p.A513V;ENSG00000088756:ENST00000531294:exon12:c.C1046T:p.A349V;ENSG00000088756:ENST00000579689:exon5:c.C449T:p.A150V;ENSG00000088756:ENST00000400091:exon13:c.C1538T:p.A513V;ENSG00000088756:ENST00000418986:exon11:c.C1061T:p.A354V;	0.388929165600795	0.578
18	6890082	A	C	18	6890083	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.A1255C:p.K419Q;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.A1255C:p.K419Q;ENSG00000088756:ENST00000314319:exon11:c.A1255C:p.K419Q;ENSG00000088756:ENST00000262227:exon13:c.A1576C:p.K526Q;ENSG00000088756:ENST00000532996:exon11:c.A1201C:p.K401Q;ENSG00000088756:ENST00000383472:exon13:c.A1732C:p.K578Q;ENSG00000088756:ENST00000531294:exon12:c.A1240C:p.K414Q;ENSG00000088756:ENST00000400091:exon13:c.A1732C:p.K578Q;ENSG00000088756:ENST00000418986:exon11:c.A1255C:p.K419Q;	0.787781000557223	0.68
18	6890082	A	G	18	6890083	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.A1255G:p.K419E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.A1255G:p.K419E;ENSG00000088756:ENST00000314319:exon11:c.A1255G:p.K419E;ENSG00000088756:ENST00000262227:exon13:c.A1576G:p.K526E;ENSG00000088756:ENST00000532996:exon11:c.A1201G:p.K401E;ENSG00000088756:ENST00000383472:exon13:c.A1732G:p.K578E;ENSG00000088756:ENST00000531294:exon12:c.A1240G:p.K414E;ENSG00000088756:ENST00000400091:exon13:c.A1732G:p.K578E;ENSG00000088756:ENST00000418986:exon11:c.A1255G:p.K419E;	0.317483777578631	0.472
18	6890082	A	T	18	6890083	y	y	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon12:c.A1255T:p.K419X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon12:c.A1255T:p.K419X;ENSG00000088756:ENST00000314319:exon11:c.A1255T:p.K419X;ENSG00000088756:ENST00000262227:exon13:c.A1576T:p.K526X;ENSG00000088756:ENST00000532996:exon11:c.A1201T:p.K401X;ENSG00000088756:ENST00000383472:exon13:c.A1732T:p.K578X;ENSG00000088756:ENST00000531294:exon12:c.A1240T:p.K414X;ENSG00000088756:ENST00000400091:exon13:c.A1732T:p.K578X;ENSG00000088756:ENST00000418986:exon11:c.A1255T:p.K419X;	0.966544529148185	0.714
18	6890083	A	C	18	6890084	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.A1256C:p.K419T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.A1256C:p.K419T;ENSG00000088756:ENST00000314319:exon11:c.A1256C:p.K419T;ENSG00000088756:ENST00000262227:exon13:c.A1577C:p.K526T;ENSG00000088756:ENST00000532996:exon11:c.A1202C:p.K401T;ENSG00000088756:ENST00000383472:exon13:c.A1733C:p.K578T;ENSG00000088756:ENST00000531294:exon12:c.A1241C:p.K414T;ENSG00000088756:ENST00000400091:exon13:c.A1733C:p.K578T;ENSG00000088756:ENST00000418986:exon11:c.A1256C:p.K419T;	0.0685906996635936	0.414
18	6890083	A	G	18	6890084	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.A1256G:p.K419R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.A1256G:p.K419R;ENSG00000088756:ENST00000314319:exon11:c.A1256G:p.K419R;ENSG00000088756:ENST00000262227:exon13:c.A1577G:p.K526R;ENSG00000088756:ENST00000532996:exon11:c.A1202G:p.K401R;ENSG00000088756:ENST00000383472:exon13:c.A1733G:p.K578R;ENSG00000088756:ENST00000531294:exon12:c.A1241G:p.K414R;ENSG00000088756:ENST00000400091:exon13:c.A1733G:p.K578R;ENSG00000088756:ENST00000418986:exon11:c.A1256G:p.K419R;	0.650998307373408	0.578
18	6890083	A	T	18	6890084	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.A1256T:p.K419M;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.A1256T:p.K419M;ENSG00000088756:ENST00000314319:exon11:c.A1256T:p.K419M;ENSG00000088756:ENST00000262227:exon13:c.A1577T:p.K526M;ENSG00000088756:ENST00000532996:exon11:c.A1202T:p.K401M;ENSG00000088756:ENST00000383472:exon13:c.A1733T:p.K578M;ENSG00000088756:ENST00000531294:exon12:c.A1241T:p.K414M;ENSG00000088756:ENST00000400091:exon13:c.A1733T:p.K578M;ENSG00000088756:ENST00000418986:exon11:c.A1256T:p.K419M;	0.661555444878409	0.548
18	6890084	G	A	18	6890085	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon12:c.G1257A:p.K419K;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.G1257A:p.K419K;ENSG00000088756:ENST00000314319:exon11:c.G1257A:p.K419K;ENSG00000088756:ENST00000262227:exon13:c.G1578A:p.K526K;ENSG00000088756:ENST00000532996:exon11:c.G1203A:p.K401K;ENSG00000088756:ENST00000383472:exon13:c.G1734A:p.K578K;ENSG00000088756:ENST00000531294:exon12:c.G1242A:p.K414K;ENSG00000088756:ENST00000400091:exon13:c.G1734A:p.K578K;ENSG00000088756:ENST00000418986:exon11:c.G1257A:p.K419K;	0.923056963856479	0.552
18	6890084	G	C	18	6890085	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.G1257C:p.K419N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.G1257C:p.K419N;ENSG00000088756:ENST00000314319:exon11:c.G1257C:p.K419N;ENSG00000088756:ENST00000262227:exon13:c.G1578C:p.K526N;ENSG00000088756:ENST00000532996:exon11:c.G1203C:p.K401N;ENSG00000088756:ENST00000383472:exon13:c.G1734C:p.K578N;ENSG00000088756:ENST00000531294:exon12:c.G1242C:p.K414N;ENSG00000088756:ENST00000400091:exon13:c.G1734C:p.K578N;ENSG00000088756:ENST00000418986:exon11:c.G1257C:p.K419N;	0.992471058634563	0.918
18	6890084	G	T	18	6890085	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon12:c.G1257T:p.K419N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon12:c.G1257T:p.K419N;ENSG00000088756:ENST00000314319:exon11:c.G1257T:p.K419N;ENSG00000088756:ENST00000262227:exon13:c.G1578T:p.K526N;ENSG00000088756:ENST00000532996:exon11:c.G1203T:p.K401N;ENSG00000088756:ENST00000383472:exon13:c.G1734T:p.K578N;ENSG00000088756:ENST00000531294:exon12:c.G1242T:p.K414N;ENSG00000088756:ENST00000400091:exon13:c.G1734T:p.K578N;ENSG00000088756:ENST00000418986:exon11:c.G1257T:p.K419N;	0.992891268342489	0.926
18	6890085	G	A	18	6890086	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1257+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1734+1G>A;ENST00000400091:exon13:c.1734+1G>A;ENST00000262227:exon13:c.1578+1G>A;ENST00000419673:exon12:c.1257+1G>A;ENST00000531294:exon12:c.1242+1G>A;ENST00000418986:exon11:c.1257+1G>A;ENST00000314319:exon11:c.1257+1G>A;ENST00000532996:exon11:c.1203+1G>A)	.	.	0.999990361384395	0.938
18	6890085	G	C	18	6890086	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1257+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1734+1G>C;ENST00000400091:exon13:c.1734+1G>C;ENST00000262227:exon13:c.1578+1G>C;ENST00000419673:exon12:c.1257+1G>C;ENST00000531294:exon12:c.1242+1G>C;ENST00000418986:exon11:c.1257+1G>C;ENST00000314319:exon11:c.1257+1G>C;ENST00000532996:exon11:c.1203+1G>C)	.	.	0.999990361384395	0.936
18	6890085	G	T	18	6890086	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1257+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1734+1G>T;ENST00000400091:exon13:c.1734+1G>T;ENST00000262227:exon13:c.1578+1G>T;ENST00000419673:exon12:c.1257+1G>T;ENST00000531294:exon12:c.1242+1G>T;ENST00000418986:exon11:c.1257+1G>T;ENST00000314319:exon11:c.1257+1G>T;ENST00000532996:exon11:c.1203+1G>T)	.	.	0.999990361384395	0.938
18	6890086	T	A	18	6890087	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1257+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1734+2T>A;ENST00000400091:exon13:c.1734+2T>A;ENST00000262227:exon13:c.1578+2T>A;ENST00000419673:exon12:c.1257+2T>A;ENST00000531294:exon12:c.1242+2T>A;ENST00000418986:exon11:c.1257+2T>A;ENST00000314319:exon11:c.1257+2T>A;ENST00000532996:exon11:c.1203+2T>A)	.	.	0.999988247793601	0.93
18	6890086	T	C	18	6890087	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1257+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1734+2T>C;ENST00000400091:exon13:c.1734+2T>C;ENST00000262227:exon13:c.1578+2T>C;ENST00000419673:exon12:c.1257+2T>C;ENST00000531294:exon12:c.1242+2T>C;ENST00000418986:exon11:c.1257+2T>C;ENST00000314319:exon11:c.1257+2T>C;ENST00000532996:exon11:c.1203+2T>C)	.	.	0.999929727175276	0.864
18	6890086	T	G	18	6890087	y	y	splicing	ARHGAP28(NM_001010000:exon12:c.1257+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon13:c.1734+2T>G;ENST00000400091:exon13:c.1734+2T>G;ENST00000262227:exon13:c.1578+2T>G;ENST00000419673:exon12:c.1257+2T>G;ENST00000531294:exon12:c.1242+2T>G;ENST00000418986:exon11:c.1257+2T>G;ENST00000314319:exon11:c.1257+2T>G;ENST00000532996:exon11:c.1203+2T>G)	.	.	0.999988247793601	0.93
18	6890087	G	A	18	6890088	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.98009119020307E-5	0.006
18	6890087	G	C	18	6890088	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0343768951081556	0.326
18	6890087	G	T	18	6890088	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0121992251386549	0.284
18	6890088	A	C	18	6890089	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.338149374727657	0.274
18	6890088	A	G	18	6890089	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.808534771005416	0.554
18	6890088	A	T	18	6890089	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.921635855467602	0.43
18	6890089	G	A	18	6890090	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.989188525264105	0.77
18	6890089	G	C	18	6890090	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.950230267822926	0.676
18	6890089	G	T	18	6890090	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.995924189614602	0.796
18	6890090	T	A	18	6890091	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.873165771445845	0.45
18	6890090	T	C	18	6890091	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.132353216925151	0.306
18	6890090	T	G	18	6890091	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0671362546249357	0.36
18	6890091	G	A	18	6890092	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.64557164868043E-5	0.0
18	6890091	G	C	18	6890092	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.62600027245509E-5	0.0
18	6890091	G	T	18	6890092	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.10862105454674E-4	0.0
18	6890092	A	C	18	6890093	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.48413367636543E-5	0.02
18	6890092	A	G	18	6890093	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.90906108858941E-5	0.018
18	6890092	A	T	18	6890093	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.48413367636543E-5	0.022
18	6890417	T	A	18	6890418	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.17952068581812E-4	0.126
18	6890417	T	C	18	6890418	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.49898939522637E-4	0.004
18	6890417	T	G	18	6890418	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.25705299861806E-4	0.064
18	6890418	T	A	18	6890419	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.56518183162298E-4	0.096
18	6890418	T	C	18	6890419	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.16177594399265E-4	0.002
18	6890418	T	G	18	6890419	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.25676836229922E-4	0.04
18	6890419	T	A	18	6890420	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00135300372950758	0.086
18	6890419	T	C	18	6890420	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.08578748686017E-5	0.006
18	6890419	T	G	18	6890420	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.25588877351732E-4	0.094
18	6890420	C	A	18	6890421	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.27496231326431E-5	0.05
18	6890420	C	G	18	6890421	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.27496231326431E-5	0.026
18	6890420	C	T	18	6890421	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.27813804886407E-5	0.014
18	6890421	T	A	18	6890422	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.60017582956945E-4	0.05
18	6890421	T	C	18	6890422	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.46130116626173E-5	0.002
18	6890421	T	G	18	6890422	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.68059788338183E-4	0.036
18	6890422	T	A	18	6890423	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.15468640030338E-4	0.16
18	6890422	T	C	18	6890423	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.12891706601451E-4	0.01
18	6890422	T	G	18	6890423	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.93305143461229E-4	0.08
18	6890423	C	A	18	6890424	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.70640504288726E-4	0.146
18	6890423	C	G	18	6890424	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.7501237890284E-4	0.14
18	6890423	C	T	18	6890424	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.57914464777372E-5	0.02
18	6890424	T	A	18	6890425	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.70075551929827E-4	0.122
18	6890424	T	C	18	6890425	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.01120002514698E-5	0.018
18	6890424	T	G	18	6890425	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.86130129435616E-4	0.168
18	6890425	C	A	18	6890426	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.21264830433666E-5	0.026
18	6890425	C	G	18	6890426	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.94191203372445E-5	0.03
18	6890425	C	T	18	6890426	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.21264830433666E-5	0.052
18	6890426	C	A	18	6890427	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.239266389935473	0.492
18	6890426	C	G	18	6890427	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.989957671976045	0.8
18	6890426	C	T	18	6890427	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0054902515101234	0.17
18	6890427	A	C	18	6890428	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1258-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1735-2A>C;ENST00000400091:exon14:c.1735-2A>C;ENST00000262227:exon14:c.1579-2A>C;ENST00000419673:exon13:c.1258-2A>C;ENST00000531294:exon13:c.1243-2A>C;ENST00000418986:exon12:c.1258-2A>C;ENST00000314319:exon12:c.1258-2A>C;ENST00000532996:exon12:c.1204-2A>C)	.	.	0.999969255906173	0.864
18	6890427	A	G	18	6890428	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1258-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1735-2A>G;ENST00000400091:exon14:c.1735-2A>G;ENST00000262227:exon14:c.1579-2A>G;ENST00000419673:exon13:c.1258-2A>G;ENST00000531294:exon13:c.1243-2A>G;ENST00000418986:exon12:c.1258-2A>G;ENST00000314319:exon12:c.1258-2A>G;ENST00000532996:exon12:c.1204-2A>G)	.	.	0.999969255906173	0.852
18	6890427	A	T	18	6890428	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1258-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1735-2A>T;ENST00000400091:exon14:c.1735-2A>T;ENST00000262227:exon14:c.1579-2A>T;ENST00000419673:exon13:c.1258-2A>T;ENST00000531294:exon13:c.1243-2A>T;ENST00000418986:exon12:c.1258-2A>T;ENST00000314319:exon12:c.1258-2A>T;ENST00000532996:exon12:c.1204-2A>T)	.	.	0.999972871252391	0.866
18	6890428	G	A	18	6890429	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1258-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1735-1G>A;ENST00000400091:exon14:c.1735-1G>A;ENST00000262227:exon14:c.1579-1G>A;ENST00000419673:exon13:c.1258-1G>A;ENST00000531294:exon13:c.1243-1G>A;ENST00000418986:exon12:c.1258-1G>A;ENST00000314319:exon12:c.1258-1G>A;ENST00000532996:exon12:c.1204-1G>A)	.	.	0.999976475802857	0.906
18	6890428	G	C	18	6890429	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1258-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1735-1G>C;ENST00000400091:exon14:c.1735-1G>C;ENST00000262227:exon14:c.1579-1G>C;ENST00000419673:exon13:c.1258-1G>C;ENST00000531294:exon13:c.1243-1G>C;ENST00000418986:exon12:c.1258-1G>C;ENST00000314319:exon12:c.1258-1G>C;ENST00000532996:exon12:c.1204-1G>C)	.	.	0.999977162774916	0.884
18	6890428	G	T	18	6890429	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1258-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1735-1G>T;ENST00000400091:exon14:c.1735-1G>T;ENST00000262227:exon14:c.1579-1G>T;ENST00000419673:exon13:c.1258-1G>T;ENST00000531294:exon13:c.1243-1G>T;ENST00000418986:exon12:c.1258-1G>T;ENST00000314319:exon12:c.1258-1G>T;ENST00000532996:exon12:c.1204-1G>T)	.	.	0.99997775019564	0.878
18	6890429	G	A	18	6890430	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1258A:p.V420I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.G1258A:p.V420I;ENSG00000088756:ENST00000314319:exon12:c.G1258A:p.V420I;ENSG00000088756:ENST00000262227:exon14:c.G1579A:p.V527I;ENSG00000088756:ENST00000532996:exon12:c.G1204A:p.V402I;ENSG00000088756:ENST00000383472:exon14:c.G1735A:p.V579I;ENSG00000088756:ENST00000531294:exon13:c.G1243A:p.V415I;ENSG00000088756:ENST00000400091:exon14:c.G1735A:p.V579I;ENSG00000088756:ENST00000418986:exon12:c.G1258A:p.V420I;	0.406571826290175	0.494
18	6890429	G	C	18	6890430	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1258C:p.V420L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.G1258C:p.V420L;ENSG00000088756:ENST00000314319:exon12:c.G1258C:p.V420L;ENSG00000088756:ENST00000262227:exon14:c.G1579C:p.V527L;ENSG00000088756:ENST00000532996:exon12:c.G1204C:p.V402L;ENSG00000088756:ENST00000383472:exon14:c.G1735C:p.V579L;ENSG00000088756:ENST00000531294:exon13:c.G1243C:p.V415L;ENSG00000088756:ENST00000400091:exon14:c.G1735C:p.V579L;ENSG00000088756:ENST00000418986:exon12:c.G1258C:p.V420L;	0.999869934170142	0.894
18	6890429	G	T	18	6890430	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1258T:p.V420F;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.G1258T:p.V420F;ENSG00000088756:ENST00000314319:exon12:c.G1258T:p.V420F;ENSG00000088756:ENST00000262227:exon14:c.G1579T:p.V527F;ENSG00000088756:ENST00000532996:exon12:c.G1204T:p.V402F;ENSG00000088756:ENST00000383472:exon14:c.G1735T:p.V579F;ENSG00000088756:ENST00000531294:exon13:c.G1243T:p.V415F;ENSG00000088756:ENST00000400091:exon14:c.G1735T:p.V579F;ENSG00000088756:ENST00000418986:exon12:c.G1258T:p.V420F;	0.999772971759748	0.926
18	6890430	T	A	18	6890431	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.T1259A:p.V420D;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.T1259A:p.V420D;ENSG00000088756:ENST00000314319:exon12:c.T1259A:p.V420D;ENSG00000088756:ENST00000262227:exon14:c.T1580A:p.V527D;ENSG00000088756:ENST00000532996:exon12:c.T1205A:p.V402D;ENSG00000088756:ENST00000383472:exon14:c.T1736A:p.V579D;ENSG00000088756:ENST00000531294:exon13:c.T1244A:p.V415D;ENSG00000088756:ENST00000400091:exon14:c.T1736A:p.V579D;ENSG00000088756:ENST00000418986:exon12:c.T1259A:p.V420D;	0.206638901957658	0.38
18	6890430	T	C	18	6890431	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.T1259C:p.V420A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.T1259C:p.V420A;ENSG00000088756:ENST00000314319:exon12:c.T1259C:p.V420A;ENSG00000088756:ENST00000262227:exon14:c.T1580C:p.V527A;ENSG00000088756:ENST00000532996:exon12:c.T1205C:p.V402A;ENSG00000088756:ENST00000383472:exon14:c.T1736C:p.V579A;ENSG00000088756:ENST00000531294:exon13:c.T1244C:p.V415A;ENSG00000088756:ENST00000400091:exon14:c.T1736C:p.V579A;ENSG00000088756:ENST00000418986:exon12:c.T1259C:p.V420A;	0.415979842086875	0.466
18	6890430	T	G	18	6890431	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.T1259G:p.V420G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.T1259G:p.V420G;ENSG00000088756:ENST00000314319:exon12:c.T1259G:p.V420G;ENSG00000088756:ENST00000262227:exon14:c.T1580G:p.V527G;ENSG00000088756:ENST00000532996:exon12:c.T1205G:p.V402G;ENSG00000088756:ENST00000383472:exon14:c.T1736G:p.V579G;ENSG00000088756:ENST00000531294:exon13:c.T1244G:p.V415G;ENSG00000088756:ENST00000400091:exon14:c.T1736G:p.V579G;ENSG00000088756:ENST00000418986:exon12:c.T1259G:p.V420G;	0.138731964889708	0.338
18	6890540	G	A	18	6890541	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1369A:p.E457K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.G1369A:p.E457K;ENSG00000088756:ENST00000314319:exon12:c.G1369A:p.E457K;ENSG00000088756:ENST00000262227:exon14:c.G1690A:p.E564K;ENSG00000088756:ENST00000532996:exon12:c.G1315A:p.E439K;ENSG00000088756:ENST00000383472:exon14:c.G1846A:p.E616K;ENSG00000088756:ENST00000531294:exon13:c.G1354A:p.E452K;ENSG00000088756:ENST00000400091:exon14:c.G1846A:p.E616K;ENSG00000088756:ENST00000418986:exon12:c.G1369A:p.E457K;	0.254365111489112	0.516
18	6890540	G	C	18	6890541	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1369C:p.E457Q;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.G1369C:p.E457Q;ENSG00000088756:ENST00000314319:exon12:c.G1369C:p.E457Q;ENSG00000088756:ENST00000262227:exon14:c.G1690C:p.E564Q;ENSG00000088756:ENST00000532996:exon12:c.G1315C:p.E439Q;ENSG00000088756:ENST00000383472:exon14:c.G1846C:p.E616Q;ENSG00000088756:ENST00000531294:exon13:c.G1354C:p.E452Q;ENSG00000088756:ENST00000400091:exon14:c.G1846C:p.E616Q;ENSG00000088756:ENST00000418986:exon12:c.G1369C:p.E457Q;	0.0042691083692039	0.044
18	6890540	G	T	18	6890541	y	y	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon13:c.G1369T:p.E457X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon13:c.G1369T:p.E457X;ENSG00000088756:ENST00000314319:exon12:c.G1369T:p.E457X;ENSG00000088756:ENST00000262227:exon14:c.G1690T:p.E564X;ENSG00000088756:ENST00000532996:exon12:c.G1315T:p.E439X;ENSG00000088756:ENST00000383472:exon14:c.G1846T:p.E616X;ENSG00000088756:ENST00000531294:exon13:c.G1354T:p.E452X;ENSG00000088756:ENST00000400091:exon14:c.G1846T:p.E616X;ENSG00000088756:ENST00000418986:exon12:c.G1369T:p.E457X;	0.981071615261254	0.86
18	6890541	A	C	18	6890542	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.A1370C:p.E457A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.A1370C:p.E457A;ENSG00000088756:ENST00000314319:exon12:c.A1370C:p.E457A;ENSG00000088756:ENST00000262227:exon14:c.A1691C:p.E564A;ENSG00000088756:ENST00000532996:exon12:c.A1316C:p.E439A;ENSG00000088756:ENST00000383472:exon14:c.A1847C:p.E616A;ENSG00000088756:ENST00000531294:exon13:c.A1355C:p.E452A;ENSG00000088756:ENST00000400091:exon14:c.A1847C:p.E616A;ENSG00000088756:ENST00000418986:exon12:c.A1370C:p.E457A;	0.698876217350014	0.71
18	6890541	A	G	18	6890542	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.A1370G:p.E457G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.A1370G:p.E457G;ENSG00000088756:ENST00000314319:exon12:c.A1370G:p.E457G;ENSG00000088756:ENST00000262227:exon14:c.A1691G:p.E564G;ENSG00000088756:ENST00000532996:exon12:c.A1316G:p.E439G;ENSG00000088756:ENST00000383472:exon14:c.A1847G:p.E616G;ENSG00000088756:ENST00000531294:exon13:c.A1355G:p.E452G;ENSG00000088756:ENST00000400091:exon14:c.A1847G:p.E616G;ENSG00000088756:ENST00000418986:exon12:c.A1370G:p.E457G;	0.554712137601187	0.69
18	6890541	A	T	18	6890542	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.A1370T:p.E457V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.A1370T:p.E457V;ENSG00000088756:ENST00000314319:exon12:c.A1370T:p.E457V;ENSG00000088756:ENST00000262227:exon14:c.A1691T:p.E564V;ENSG00000088756:ENST00000532996:exon12:c.A1316T:p.E439V;ENSG00000088756:ENST00000383472:exon14:c.A1847T:p.E616V;ENSG00000088756:ENST00000531294:exon13:c.A1355T:p.E452V;ENSG00000088756:ENST00000400091:exon14:c.A1847T:p.E616V;ENSG00000088756:ENST00000418986:exon12:c.A1370T:p.E457V;	0.987297699945871	0.824
18	6890542	G	A	18	6890543	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1371A:p.E457E;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.G1371A:p.E457E;ENSG00000088756:ENST00000314319:exon12:c.G1371A:p.E457E;ENSG00000088756:ENST00000262227:exon14:c.G1692A:p.E564E;ENSG00000088756:ENST00000532996:exon12:c.G1317A:p.E439E;ENSG00000088756:ENST00000383472:exon14:c.G1848A:p.E616E;ENSG00000088756:ENST00000531294:exon13:c.G1356A:p.E452E;ENSG00000088756:ENST00000400091:exon14:c.G1848A:p.E616E;ENSG00000088756:ENST00000418986:exon12:c.G1371A:p.E457E;	0.99961017040863	0.768
18	6890542	G	C	18	6890543	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1371C:p.E457D;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.G1371C:p.E457D;ENSG00000088756:ENST00000314319:exon12:c.G1371C:p.E457D;ENSG00000088756:ENST00000262227:exon14:c.G1692C:p.E564D;ENSG00000088756:ENST00000532996:exon12:c.G1317C:p.E439D;ENSG00000088756:ENST00000383472:exon14:c.G1848C:p.E616D;ENSG00000088756:ENST00000531294:exon13:c.G1356C:p.E452D;ENSG00000088756:ENST00000400091:exon14:c.G1848C:p.E616D;ENSG00000088756:ENST00000418986:exon12:c.G1371C:p.E457D;	0.999419460045562	0.76
18	6890542	G	T	18	6890543	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon13:c.G1371T:p.E457D;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon13:c.G1371T:p.E457D;ENSG00000088756:ENST00000314319:exon12:c.G1371T:p.E457D;ENSG00000088756:ENST00000262227:exon14:c.G1692T:p.E564D;ENSG00000088756:ENST00000532996:exon12:c.G1317T:p.E439D;ENSG00000088756:ENST00000383472:exon14:c.G1848T:p.E616D;ENSG00000088756:ENST00000531294:exon13:c.G1356T:p.E452D;ENSG00000088756:ENST00000400091:exon14:c.G1848T:p.E616D;ENSG00000088756:ENST00000418986:exon12:c.G1371T:p.E457D;	0.999843246853169	0.918
18	6890543	G	A	18	6890544	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1371+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1848+1G>A;ENST00000400091:exon14:c.1848+1G>A;ENST00000262227:exon14:c.1692+1G>A;ENST00000419673:exon13:c.1371+1G>A;ENST00000531294:exon13:c.1356+1G>A;ENST00000418986:exon12:c.1371+1G>A;ENST00000314319:exon12:c.1371+1G>A;ENST00000532996:exon12:c.1317+1G>A)	.	.	0.999987205282477	0.772
18	6890543	G	C	18	6890544	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1371+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1848+1G>C;ENST00000400091:exon14:c.1848+1G>C;ENST00000262227:exon14:c.1692+1G>C;ENST00000419673:exon13:c.1371+1G>C;ENST00000531294:exon13:c.1356+1G>C;ENST00000418986:exon12:c.1371+1G>C;ENST00000314319:exon12:c.1371+1G>C;ENST00000532996:exon12:c.1317+1G>C)	.	.	0.999991289042512	0.776
18	6890543	G	T	18	6890544	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1371+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1848+1G>T;ENST00000400091:exon14:c.1848+1G>T;ENST00000262227:exon14:c.1692+1G>T;ENST00000419673:exon13:c.1371+1G>T;ENST00000531294:exon13:c.1356+1G>T;ENST00000418986:exon12:c.1371+1G>T;ENST00000314319:exon12:c.1371+1G>T;ENST00000532996:exon12:c.1317+1G>T)	.	.	0.999991289042512	0.774
18	6890544	T	A	18	6890545	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1371+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1848+2T>A;ENST00000400091:exon14:c.1848+2T>A;ENST00000262227:exon14:c.1692+2T>A;ENST00000419673:exon13:c.1371+2T>A;ENST00000531294:exon13:c.1356+2T>A;ENST00000418986:exon12:c.1371+2T>A;ENST00000314319:exon12:c.1371+2T>A;ENST00000532996:exon12:c.1317+2T>A)	.	.	0.999989378869813	0.756
18	6890544	T	C	18	6890545	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1371+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1848+2T>C;ENST00000400091:exon14:c.1848+2T>C;ENST00000262227:exon14:c.1692+2T>C;ENST00000419673:exon13:c.1371+2T>C;ENST00000531294:exon13:c.1356+2T>C;ENST00000418986:exon12:c.1371+2T>C;ENST00000314319:exon12:c.1371+2T>C;ENST00000532996:exon12:c.1317+2T>C)	.	.	0.916223517375126	0.538
18	6890544	T	G	18	6890545	y	y	splicing	ARHGAP28(NM_001010000:exon13:c.1371+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon14:c.1848+2T>G;ENST00000400091:exon14:c.1848+2T>G;ENST00000262227:exon14:c.1692+2T>G;ENST00000419673:exon13:c.1371+2T>G;ENST00000531294:exon13:c.1356+2T>G;ENST00000418986:exon12:c.1371+2T>G;ENST00000314319:exon12:c.1371+2T>G;ENST00000532996:exon12:c.1317+2T>G)	.	.	0.999989378869813	0.758
18	6890545	A	C	18	6890546	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.799904598230608	0.552
18	6890545	A	G	18	6890546	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00327669757742892	0.088
18	6890545	A	T	18	6890546	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.78418771963054	0.594
18	6890546	A	C	18	6890547	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0537526933324702	0.288
18	6890546	A	G	18	6890547	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0723274026000415	0.308
18	6890546	A	T	18	6890547	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0484226365149332	0.292
18	6890547	G	A	18	6890548	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.946778449369409	0.608
18	6890547	G	C	18	6890548	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.229861883744695	0.466
18	6890547	G	T	18	6890548	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.352405125668174	0.45
18	6890548	A	C	18	6890549	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.27255409174021E-4	0.01
18	6890548	A	G	18	6890549	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.78774544558534E-5	0.0
18	6890548	A	T	18	6890549	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.26516464618983E-5	0.01
18	6890549	C	A	18	6890550	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.64507739586306E-5	0.0
18	6890549	C	G	18	6890550	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.50388649056598E-5	0.0
18	6890549	C	T	18	6890550	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.39638304918414E-5	0.0
18	6890550	A	C	18	6890551	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.05050996383478E-5	0.004
18	6890550	A	G	18	6890551	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.45084295171545E-5	0.008
18	6890550	A	T	18	6890551	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.72592930351797E-5	0.006
18	6894822	T	A	18	6894823	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999984256737761	0.96
18	6894822	T	C	18	6894823	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.137790618674602	0.42
18	6894822	T	G	18	6894823	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.998698086067554	0.86
18	6894823	G	A	18	6894824	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.40888715119446E-5	0.078
18	6894823	G	C	18	6894824	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.58007531990498E-5	0.046
18	6894823	G	T	18	6894824	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.24573841489708E-5	0.052
18	6894824	T	A	18	6894825	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.327826865603295	0.374
18	6894824	T	C	18	6894825	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.4554738329548E-4	0.126
18	6894824	T	G	18	6894825	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.132231098822054	0.348
18	6894825	T	A	18	6894826	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.324566603621399	0.602
18	6894825	T	C	18	6894826	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.34734331864732E-4	0.016
18	6894825	T	G	18	6894826	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0604912169185283	0.492
18	6894826	T	A	18	6894827	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.914503306021531	0.61
18	6894826	T	C	18	6894827	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0012908686084645	0.022
18	6894826	T	G	18	6894827	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.513229467634817	0.474
18	6894827	C	A	18	6894828	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00668020687428996	0.128
18	6894827	C	G	18	6894828	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00474822379440407	0.182
18	6894827	C	T	18	6894828	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.01846897524562E-4	0.032
18	6894828	T	A	18	6894829	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0120373710245097	0.078
18	6894828	T	C	18	6894829	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.23915755044569E-5	0.002
18	6894828	T	G	18	6894829	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.051886918543737	0.318
18	6894829	T	A	18	6894830	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.989891661954467	0.716
18	6894829	T	C	18	6894830	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0543274866164532	0.158
18	6894829	T	G	18	6894830	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.991616493665025	0.686
18	6894830	T	A	18	6894831	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00741190375661731	0.138
18	6894830	T	C	18	6894831	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00465710586508928	0.044
18	6894830	T	G	18	6894831	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00262061578606268	0.046
18	6894831	T	A	18	6894832	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.885546086652349	0.544
18	6894831	T	C	18	6894832	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00137670383840622	0.008
18	6894831	T	G	18	6894832	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999179260204521	0.832
18	6894832	A	C	18	6894833	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1372-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1849-2A>C;ENST00000400091:exon15:c.1849-2A>C;ENST00000262227:exon15:c.1693-2A>C;ENST00000419673:exon14:c.1372-2A>C;ENST00000531294:exon14:c.1357-2A>C;ENST00000418986:exon13:c.1372-2A>C;ENST00000314319:exon13:c.1372-2A>C;ENST00000532996:exon13:c.1318-2A>C)	.	.	0.999988247793601	0.926
18	6894832	A	G	18	6894833	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1372-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1849-2A>G;ENST00000400091:exon15:c.1849-2A>G;ENST00000262227:exon15:c.1693-2A>G;ENST00000419673:exon14:c.1372-2A>G;ENST00000531294:exon14:c.1357-2A>G;ENST00000418986:exon13:c.1372-2A>G;ENST00000314319:exon13:c.1372-2A>G;ENST00000532996:exon13:c.1318-2A>G)	.	.	0.999988247793601	0.926
18	6894832	A	T	18	6894833	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1372-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1849-2A>T;ENST00000400091:exon15:c.1849-2A>T;ENST00000262227:exon15:c.1693-2A>T;ENST00000419673:exon14:c.1372-2A>T;ENST00000531294:exon14:c.1357-2A>T;ENST00000418986:exon13:c.1372-2A>T;ENST00000314319:exon13:c.1372-2A>T;ENST00000532996:exon13:c.1318-2A>T)	.	.	0.999988247793601	0.926
18	6894833	G	A	18	6894834	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1372-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1849-1G>A;ENST00000400091:exon15:c.1849-1G>A;ENST00000262227:exon15:c.1693-1G>A;ENST00000419673:exon14:c.1372-1G>A;ENST00000531294:exon14:c.1357-1G>A;ENST00000418986:exon13:c.1372-1G>A;ENST00000314319:exon13:c.1372-1G>A;ENST00000532996:exon13:c.1318-1G>A)	.	.	0.999985532734767	0.936
18	6894833	G	C	18	6894834	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1372-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1849-1G>C;ENST00000400091:exon15:c.1849-1G>C;ENST00000262227:exon15:c.1693-1G>C;ENST00000419673:exon14:c.1372-1G>C;ENST00000531294:exon14:c.1357-1G>C;ENST00000418986:exon13:c.1372-1G>C;ENST00000314319:exon13:c.1372-1G>C;ENST00000532996:exon13:c.1318-1G>C)	.	.	0.999985532734767	0.936
18	6894833	G	T	18	6894834	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1372-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1849-1G>T;ENST00000400091:exon15:c.1849-1G>T;ENST00000262227:exon15:c.1693-1G>T;ENST00000419673:exon14:c.1372-1G>T;ENST00000531294:exon14:c.1357-1G>T;ENST00000418986:exon13:c.1372-1G>T;ENST00000314319:exon13:c.1372-1G>T;ENST00000532996:exon13:c.1318-1G>T)	.	.	0.999985532734767	0.936
18	6894834	A	C	18	6894835	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.A1372C:p.T458P;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.A1372C:p.T458P;ENSG00000088756:ENST00000314319:exon13:c.A1372C:p.T458P;ENSG00000088756:ENST00000262227:exon15:c.A1693C:p.T565P;ENSG00000088756:ENST00000532996:exon13:c.A1318C:p.T440P;ENSG00000088756:ENST00000383472:exon15:c.A1849C:p.T617P;ENSG00000088756:ENST00000531294:exon14:c.A1357C:p.T453P;ENSG00000088756:ENST00000400091:exon15:c.A1849C:p.T617P;ENSG00000088756:ENST00000418986:exon13:c.A1372C:p.T458P;	0.00216965083077424	0.176
18	6894834	A	G	18	6894835	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.A1372G:p.T458A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.A1372G:p.T458A;ENSG00000088756:ENST00000314319:exon13:c.A1372G:p.T458A;ENSG00000088756:ENST00000262227:exon15:c.A1693G:p.T565A;ENSG00000088756:ENST00000532996:exon13:c.A1318G:p.T440A;ENSG00000088756:ENST00000383472:exon15:c.A1849G:p.T617A;ENSG00000088756:ENST00000531294:exon14:c.A1357G:p.T453A;ENSG00000088756:ENST00000400091:exon15:c.A1849G:p.T617A;ENSG00000088756:ENST00000418986:exon13:c.A1372G:p.T458A;	8.98274846322319E-5	0.002
18	6894834	A	T	18	6894835	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.A1372T:p.T458S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.A1372T:p.T458S;ENSG00000088756:ENST00000314319:exon13:c.A1372T:p.T458S;ENSG00000088756:ENST00000262227:exon15:c.A1693T:p.T565S;ENSG00000088756:ENST00000532996:exon13:c.A1318T:p.T440S;ENSG00000088756:ENST00000383472:exon15:c.A1849T:p.T617S;ENSG00000088756:ENST00000531294:exon14:c.A1357T:p.T453S;ENSG00000088756:ENST00000400091:exon15:c.A1849T:p.T617S;ENSG00000088756:ENST00000418986:exon13:c.A1372T:p.T458S;	6.92143987490438E-4	0.05
18	6894835	C	A	18	6894836	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.C1373A:p.T458N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.C1373A:p.T458N;ENSG00000088756:ENST00000314319:exon13:c.C1373A:p.T458N;ENSG00000088756:ENST00000262227:exon15:c.C1694A:p.T565N;ENSG00000088756:ENST00000532996:exon13:c.C1319A:p.T440N;ENSG00000088756:ENST00000383472:exon15:c.C1850A:p.T617N;ENSG00000088756:ENST00000531294:exon14:c.C1358A:p.T453N;ENSG00000088756:ENST00000400091:exon15:c.C1850A:p.T617N;ENSG00000088756:ENST00000418986:exon13:c.C1373A:p.T458N;	6.74640196319395E-5	0.002
18	6894835	C	G	18	6894836	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.C1373G:p.T458S;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.C1373G:p.T458S;ENSG00000088756:ENST00000314319:exon13:c.C1373G:p.T458S;ENSG00000088756:ENST00000262227:exon15:c.C1694G:p.T565S;ENSG00000088756:ENST00000532996:exon13:c.C1319G:p.T440S;ENSG00000088756:ENST00000383472:exon15:c.C1850G:p.T617S;ENSG00000088756:ENST00000531294:exon14:c.C1358G:p.T453S;ENSG00000088756:ENST00000400091:exon15:c.C1850G:p.T617S;ENSG00000088756:ENST00000418986:exon13:c.C1373G:p.T458S;	2.46915325546407E-5	0.018
18	6894835	C	T	18	6894836	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.C1373T:p.T458I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.C1373T:p.T458I;ENSG00000088756:ENST00000314319:exon13:c.C1373T:p.T458I;ENSG00000088756:ENST00000262227:exon15:c.C1694T:p.T565I;ENSG00000088756:ENST00000532996:exon13:c.C1319T:p.T440I;ENSG00000088756:ENST00000383472:exon15:c.C1850T:p.T617I;ENSG00000088756:ENST00000531294:exon14:c.C1358T:p.T453I;ENSG00000088756:ENST00000400091:exon15:c.C1850T:p.T617I;ENSG00000088756:ENST00000418986:exon13:c.C1373T:p.T458I;	2.28848564957059E-5	0.008
18	6894888	A	C	18	6894889	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.A1426C:p.M476L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.A1426C:p.M476L;ENSG00000088756:ENST00000314319:exon13:c.A1426C:p.M476L;ENSG00000088756:ENST00000262227:exon15:c.A1747C:p.M583L;ENSG00000088756:ENST00000532996:exon13:c.A1372C:p.M458L;ENSG00000088756:ENST00000383472:exon15:c.A1903C:p.M635L;ENSG00000088756:ENST00000531294:exon14:c.A1411C:p.M471L;ENSG00000088756:ENST00000400091:exon15:c.A1903C:p.M635L;ENSG00000088756:ENST00000418986:exon13:c.A1426C:p.M476L;	3.35550076395598E-5	0.0
18	6894888	A	G	18	6894889	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.A1426G:p.M476V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.A1426G:p.M476V;ENSG00000088756:ENST00000314319:exon13:c.A1426G:p.M476V;ENSG00000088756:ENST00000262227:exon15:c.A1747G:p.M583V;ENSG00000088756:ENST00000532996:exon13:c.A1372G:p.M458V;ENSG00000088756:ENST00000383472:exon15:c.A1903G:p.M635V;ENSG00000088756:ENST00000531294:exon14:c.A1411G:p.M471V;ENSG00000088756:ENST00000400091:exon15:c.A1903G:p.M635V;ENSG00000088756:ENST00000418986:exon13:c.A1426G:p.M476V;	1.51992366658715E-4	0.002
18	6894888	A	T	18	6894889	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.A1426T:p.M476L;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.A1426T:p.M476L;ENSG00000088756:ENST00000314319:exon13:c.A1426T:p.M476L;ENSG00000088756:ENST00000262227:exon15:c.A1747T:p.M583L;ENSG00000088756:ENST00000532996:exon13:c.A1372T:p.M458L;ENSG00000088756:ENST00000383472:exon15:c.A1903T:p.M635L;ENSG00000088756:ENST00000531294:exon14:c.A1411T:p.M471L;ENSG00000088756:ENST00000400091:exon15:c.A1903T:p.M635L;ENSG00000088756:ENST00000418986:exon13:c.A1426T:p.M476L;	2.11937287237709E-4	0.14
18	6894889	T	A	18	6894890	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.T1427A:p.M476K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.T1427A:p.M476K;ENSG00000088756:ENST00000314319:exon13:c.T1427A:p.M476K;ENSG00000088756:ENST00000262227:exon15:c.T1748A:p.M583K;ENSG00000088756:ENST00000532996:exon13:c.T1373A:p.M458K;ENSG00000088756:ENST00000383472:exon15:c.T1904A:p.M635K;ENSG00000088756:ENST00000531294:exon14:c.T1412A:p.M471K;ENSG00000088756:ENST00000400091:exon15:c.T1904A:p.M635K;ENSG00000088756:ENST00000418986:exon13:c.T1427A:p.M476K;	0.00124179802549971	0.07
18	6894889	T	C	18	6894890	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.T1427C:p.M476T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.T1427C:p.M476T;ENSG00000088756:ENST00000314319:exon13:c.T1427C:p.M476T;ENSG00000088756:ENST00000262227:exon15:c.T1748C:p.M583T;ENSG00000088756:ENST00000532996:exon13:c.T1373C:p.M458T;ENSG00000088756:ENST00000383472:exon15:c.T1904C:p.M635T;ENSG00000088756:ENST00000531294:exon14:c.T1412C:p.M471T;ENSG00000088756:ENST00000400091:exon15:c.T1904C:p.M635T;ENSG00000088756:ENST00000418986:exon13:c.T1427C:p.M476T;	7.65510710153125E-4	0.082
18	6894889	T	G	18	6894890	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.T1427G:p.M476R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.T1427G:p.M476R;ENSG00000088756:ENST00000314319:exon13:c.T1427G:p.M476R;ENSG00000088756:ENST00000262227:exon15:c.T1748G:p.M583R;ENSG00000088756:ENST00000532996:exon13:c.T1373G:p.M458R;ENSG00000088756:ENST00000383472:exon15:c.T1904G:p.M635R;ENSG00000088756:ENST00000531294:exon14:c.T1412G:p.M471R;ENSG00000088756:ENST00000400091:exon15:c.T1904G:p.M635R;ENSG00000088756:ENST00000418986:exon13:c.T1427G:p.M476R;	0.00197005648853825	0.108
18	6894890	G	A	18	6894891	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.G1428A:p.M476I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.G1428A:p.M476I;ENSG00000088756:ENST00000314319:exon13:c.G1428A:p.M476I;ENSG00000088756:ENST00000262227:exon15:c.G1749A:p.M583I;ENSG00000088756:ENST00000532996:exon13:c.G1374A:p.M458I;ENSG00000088756:ENST00000383472:exon15:c.G1905A:p.M635I;ENSG00000088756:ENST00000531294:exon14:c.G1413A:p.M471I;ENSG00000088756:ENST00000400091:exon15:c.G1905A:p.M635I;ENSG00000088756:ENST00000418986:exon13:c.G1428A:p.M476I;	0.99920964391935	0.978
18	6894890	G	C	18	6894891	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.G1428C:p.M476I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.G1428C:p.M476I;ENSG00000088756:ENST00000314319:exon13:c.G1428C:p.M476I;ENSG00000088756:ENST00000262227:exon15:c.G1749C:p.M583I;ENSG00000088756:ENST00000532996:exon13:c.G1374C:p.M458I;ENSG00000088756:ENST00000383472:exon15:c.G1905C:p.M635I;ENSG00000088756:ENST00000531294:exon14:c.G1413C:p.M471I;ENSG00000088756:ENST00000400091:exon15:c.G1905C:p.M635I;ENSG00000088756:ENST00000418986:exon13:c.G1428C:p.M476I;	0.999666800055525	0.88
18	6894890	G	T	18	6894891	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon14:c.G1428T:p.M476I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon14:c.G1428T:p.M476I;ENSG00000088756:ENST00000314319:exon13:c.G1428T:p.M476I;ENSG00000088756:ENST00000262227:exon15:c.G1749T:p.M583I;ENSG00000088756:ENST00000532996:exon13:c.G1374T:p.M458I;ENSG00000088756:ENST00000383472:exon15:c.G1905T:p.M635I;ENSG00000088756:ENST00000531294:exon14:c.G1413T:p.M471I;ENSG00000088756:ENST00000400091:exon15:c.G1905T:p.M635I;ENSG00000088756:ENST00000418986:exon13:c.G1428T:p.M476I;	0.999850306628463	0.966
18	6894891	G	A	18	6894892	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1428+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1905+1G>A;ENST00000400091:exon15:c.1905+1G>A;ENST00000262227:exon15:c.1749+1G>A;ENST00000419673:exon14:c.1428+1G>A;ENST00000531294:exon14:c.1413+1G>A;ENST00000418986:exon13:c.1428+1G>A;ENST00000314319:exon13:c.1428+1G>A;ENST00000532996:exon13:c.1374+1G>A)	.	.	0.999985532734767	0.934
18	6894891	G	C	18	6894892	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1428+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1905+1G>C;ENST00000400091:exon15:c.1905+1G>C;ENST00000262227:exon15:c.1749+1G>C;ENST00000419673:exon14:c.1428+1G>C;ENST00000531294:exon14:c.1413+1G>C;ENST00000418986:exon13:c.1428+1G>C;ENST00000314319:exon13:c.1428+1G>C;ENST00000532996:exon13:c.1374+1G>C)	.	.	0.999985532734767	0.934
18	6894891	G	T	18	6894892	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1428+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1905+1G>T;ENST00000400091:exon15:c.1905+1G>T;ENST00000262227:exon15:c.1749+1G>T;ENST00000419673:exon14:c.1428+1G>T;ENST00000531294:exon14:c.1413+1G>T;ENST00000418986:exon13:c.1428+1G>T;ENST00000314319:exon13:c.1428+1G>T;ENST00000532996:exon13:c.1374+1G>T)	.	.	0.999985532734767	0.934
18	6894892	T	A	18	6894893	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1428+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1905+2T>A;ENST00000400091:exon15:c.1905+2T>A;ENST00000262227:exon15:c.1749+2T>A;ENST00000419673:exon14:c.1428+2T>A;ENST00000531294:exon14:c.1413+2T>A;ENST00000418986:exon13:c.1428+2T>A;ENST00000314319:exon13:c.1428+2T>A;ENST00000532996:exon13:c.1374+2T>A)	.	.	0.999988247793601	0.926
18	6894892	T	C	18	6894893	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1428+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1905+2T>C;ENST00000400091:exon15:c.1905+2T>C;ENST00000262227:exon15:c.1749+2T>C;ENST00000419673:exon14:c.1428+2T>C;ENST00000531294:exon14:c.1413+2T>C;ENST00000418986:exon13:c.1428+2T>C;ENST00000314319:exon13:c.1428+2T>C;ENST00000532996:exon13:c.1374+2T>C)	.	.	0.99991522016916	0.888
18	6894892	T	G	18	6894893	y	y	splicing	ARHGAP28(NM_001010000:exon14:c.1428+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon15:c.1905+2T>G;ENST00000400091:exon15:c.1905+2T>G;ENST00000262227:exon15:c.1749+2T>G;ENST00000419673:exon14:c.1428+2T>G;ENST00000531294:exon14:c.1413+2T>G;ENST00000418986:exon13:c.1428+2T>G;ENST00000314319:exon13:c.1428+2T>G;ENST00000532996:exon13:c.1374+2T>G)	.	.	0.999988247793601	0.926
18	6894893	A	C	18	6894894	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.997148323543942	0.88
18	6894893	A	G	18	6894894	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.724430098058204	0.488
18	6894893	A	T	18	6894894	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.996682948694294	0.936
18	6894894	A	C	18	6894895	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.990632442601523	0.75
18	6894894	A	G	18	6894895	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.995179923855807	0.878
18	6894894	A	T	18	6894895	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.998144222355281	0.924
18	6894895	G	A	18	6894896	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999868334071267	0.974
18	6894895	G	C	18	6894896	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999884977125304	0.99
18	6894895	G	T	18	6894896	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999364647765903	0.88
18	6894896	A	C	18	6894897	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.00376731964951E-4	0.034
18	6894896	A	G	18	6894897	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.20296451626733E-4	0.036
18	6894896	A	T	18	6894897	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.09516452899394E-4	0.012
18	6894897	A	C	18	6894898	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00921402356655267	0.03
18	6894897	A	G	18	6894898	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00412475280483219	0.046
18	6894897	A	T	18	6894898	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00357253266235582	0.032
18	6894898	A	C	18	6894899	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00955406869949695	0.036
18	6894898	A	G	18	6894899	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00622906010958887	0.03
18	6894898	A	T	18	6894899	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0200606550729389	0.086
18	6896489	C	A	18	6896490	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.177109732095618	0.332
18	6896489	C	G	18	6896490	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0768374636051958	0.168
18	6896489	C	T	18	6896490	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.018663181577226	0.3
18	6896490	C	A	18	6896491	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.78353901058356E-4	0.136
18	6896490	C	G	18	6896491	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.41132911158916E-4	0.134
18	6896490	C	T	18	6896491	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.54393222188833E-4	0.2
18	6896491	T	A	18	6896492	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00199382147045748	0.284
18	6896491	T	C	18	6896492	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.53521967993843E-6	0.042
18	6896491	T	G	18	6896492	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00116313937482482	0.204
18	6896492	C	A	18	6896493	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.666731403910735	0.388
18	6896492	C	G	18	6896493	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.109282611408379	0.196
18	6896492	C	T	18	6896493	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0335035366727724	0.362
18	6896493	C	A	18	6896494	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.28968048420535E-4	0.066
18	6896493	C	G	18	6896494	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.11179963511744E-4	0.08
18	6896493	C	T	18	6896494	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.30301116675366E-5	0.004
18	6896494	T	A	18	6896495	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00170492780299062	0.078
18	6896494	T	C	18	6896495	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.87088762542443E-5	0.052
18	6896494	T	G	18	6896495	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.06202587791329E-4	0.084
18	6896495	T	A	18	6896496	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999982524624991	0.978
18	6896495	T	C	18	6896496	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.71367787664131E-4	0.012
18	6896495	T	G	18	6896496	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0100593516887369	0.194
18	6896496	G	A	18	6896497	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.986964333041203	0.772
18	6896496	G	C	18	6896497	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00167247110298114	0.04
18	6896496	G	T	18	6896497	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.92562457124846E-4	0.028
18	6896497	G	A	18	6896498	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.68618513298577E-4	0.006
18	6896497	G	C	18	6896498	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.4304386802657E-4	0.034
18	6896497	G	T	18	6896498	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0020731505572579	0.09
18	6896498	C	A	18	6896499	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.99961050321195	0.95
18	6896498	C	G	18	6896499	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999954712334262	0.996
18	6896498	C	T	18	6896499	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.452195227143778	0.368
18	6896499	A	C	18	6896500	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1429-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.1906-2A>C;ENST00000400091:exon16:c.1906-2A>C;ENST00000262227:exon16:c.1750-2A>C;ENST00000419673:exon15:c.1429-2A>C;ENST00000531294:exon15:c.1414-2A>C;ENST00000418986:exon14:c.1429-2A>C;ENST00000314319:exon14:c.1429-2A>C;ENST00000532996:exon14:c.1375-2A>C)	.	.	0.999986607513753	0.938
18	6896499	A	G	18	6896500	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1429-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.1906-2A>G;ENST00000400091:exon16:c.1906-2A>G;ENST00000262227:exon16:c.1750-2A>G;ENST00000419673:exon15:c.1429-2A>G;ENST00000531294:exon15:c.1414-2A>G;ENST00000418986:exon14:c.1429-2A>G;ENST00000314319:exon14:c.1429-2A>G;ENST00000532996:exon14:c.1375-2A>G)	.	.	0.999986607513753	0.938
18	6896499	A	T	18	6896500	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1429-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.1906-2A>T;ENST00000400091:exon16:c.1906-2A>T;ENST00000262227:exon16:c.1750-2A>T;ENST00000419673:exon15:c.1429-2A>T;ENST00000531294:exon15:c.1414-2A>T;ENST00000418986:exon14:c.1429-2A>T;ENST00000314319:exon14:c.1429-2A>T;ENST00000532996:exon14:c.1375-2A>T)	.	.	0.999986607513753	0.94
18	6896500	G	A	18	6896501	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1429-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.1906-1G>A;ENST00000400091:exon16:c.1906-1G>A;ENST00000262227:exon16:c.1750-1G>A;ENST00000419673:exon15:c.1429-1G>A;ENST00000531294:exon15:c.1414-1G>A;ENST00000418986:exon14:c.1429-1G>A;ENST00000314319:exon14:c.1429-1G>A;ENST00000532996:exon14:c.1375-1G>A)	.	.	0.999985532734767	0.946
18	6896500	G	C	18	6896501	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1429-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.1906-1G>C;ENST00000400091:exon16:c.1906-1G>C;ENST00000262227:exon16:c.1750-1G>C;ENST00000419673:exon15:c.1429-1G>C;ENST00000531294:exon15:c.1414-1G>C;ENST00000418986:exon14:c.1429-1G>C;ENST00000314319:exon14:c.1429-1G>C;ENST00000532996:exon14:c.1375-1G>C)	.	.	0.999985532734767	0.946
18	6896500	G	T	18	6896501	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1429-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.1906-1G>T;ENST00000400091:exon16:c.1906-1G>T;ENST00000262227:exon16:c.1750-1G>T;ENST00000419673:exon15:c.1429-1G>T;ENST00000531294:exon15:c.1414-1G>T;ENST00000418986:exon14:c.1429-1G>T;ENST00000314319:exon14:c.1429-1G>T;ENST00000532996:exon14:c.1375-1G>T)	.	.	0.999985532734767	0.946
18	6896501	T	A	18	6896502	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.T1429A:p.S477T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.T1429A:p.S477T;ENSG00000088756:ENST00000314319:exon14:c.T1429A:p.S477T;ENSG00000088756:ENST00000262227:exon16:c.T1750A:p.S584T;ENSG00000088756:ENST00000532996:exon14:c.T1375A:p.S459T;ENSG00000088756:ENST00000383472:exon16:c.T1906A:p.S636T;ENSG00000088756:ENST00000531294:exon15:c.T1414A:p.S472T;ENSG00000088756:ENST00000400091:exon16:c.T1906A:p.S636T;ENSG00000088756:ENST00000418986:exon14:c.T1429A:p.S477T;	0.671104167717455	0.6
18	6896501	T	C	18	6896502	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.T1429C:p.S477P;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.T1429C:p.S477P;ENSG00000088756:ENST00000314319:exon14:c.T1429C:p.S477P;ENSG00000088756:ENST00000262227:exon16:c.T1750C:p.S584P;ENSG00000088756:ENST00000532996:exon14:c.T1375C:p.S459P;ENSG00000088756:ENST00000383472:exon16:c.T1906C:p.S636P;ENSG00000088756:ENST00000531294:exon15:c.T1414C:p.S472P;ENSG00000088756:ENST00000400091:exon16:c.T1906C:p.S636P;ENSG00000088756:ENST00000418986:exon14:c.T1429C:p.S477P;	0.820097091691807	0.676
18	6896501	T	G	18	6896502	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.T1429G:p.S477A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.T1429G:p.S477A;ENSG00000088756:ENST00000314319:exon14:c.T1429G:p.S477A;ENSG00000088756:ENST00000262227:exon16:c.T1750G:p.S584A;ENSG00000088756:ENST00000532996:exon14:c.T1375G:p.S459A;ENSG00000088756:ENST00000383472:exon16:c.T1906G:p.S636A;ENSG00000088756:ENST00000531294:exon15:c.T1414G:p.S472A;ENSG00000088756:ENST00000400091:exon16:c.T1906G:p.S636A;ENSG00000088756:ENST00000418986:exon14:c.T1429G:p.S477A;	0.02979167992274	0.166
18	6896502	C	A	18	6896503	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.C1430A:p.S477Y;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.C1430A:p.S477Y;ENSG00000088756:ENST00000314319:exon14:c.C1430A:p.S477Y;ENSG00000088756:ENST00000262227:exon16:c.C1751A:p.S584Y;ENSG00000088756:ENST00000532996:exon14:c.C1376A:p.S459Y;ENSG00000088756:ENST00000383472:exon16:c.C1907A:p.S636Y;ENSG00000088756:ENST00000531294:exon15:c.C1415A:p.S472Y;ENSG00000088756:ENST00000400091:exon16:c.C1907A:p.S636Y;ENSG00000088756:ENST00000418986:exon14:c.C1430A:p.S477Y;	0.994703328909642	0.728
18	6896502	C	G	18	6896503	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.C1430G:p.S477C;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.C1430G:p.S477C;ENSG00000088756:ENST00000314319:exon14:c.C1430G:p.S477C;ENSG00000088756:ENST00000262227:exon16:c.C1751G:p.S584C;ENSG00000088756:ENST00000532996:exon14:c.C1376G:p.S459C;ENSG00000088756:ENST00000383472:exon16:c.C1907G:p.S636C;ENSG00000088756:ENST00000531294:exon15:c.C1415G:p.S472C;ENSG00000088756:ENST00000400091:exon16:c.C1907G:p.S636C;ENSG00000088756:ENST00000418986:exon14:c.C1430G:p.S477C;	0.0279996728771113	0.188
18	6896502	C	T	18	6896503	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.C1430T:p.S477F;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.C1430T:p.S477F;ENSG00000088756:ENST00000314319:exon14:c.C1430T:p.S477F;ENSG00000088756:ENST00000262227:exon16:c.C1751T:p.S584F;ENSG00000088756:ENST00000532996:exon14:c.C1376T:p.S459F;ENSG00000088756:ENST00000383472:exon16:c.C1907T:p.S636F;ENSG00000088756:ENST00000531294:exon15:c.C1415T:p.S472F;ENSG00000088756:ENST00000400091:exon16:c.C1907T:p.S636F;ENSG00000088756:ENST00000418986:exon14:c.C1430T:p.S477F;	0.971093478509873	0.712
18	6896623	C	A	18	6896624	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.C1551A:p.N517K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.C1551A:p.N517K;ENSG00000088756:ENST00000314319:exon14:c.C1551A:p.N517K;ENSG00000088756:ENST00000262227:exon16:c.C1872A:p.N624K;ENSG00000088756:ENST00000532996:exon14:c.C1497A:p.N499K;ENSG00000088756:ENST00000383472:exon16:c.C2028A:p.N676K;ENSG00000088756:ENST00000531294:exon15:c.C1536A:p.N512K;ENSG00000088756:ENST00000400091:exon16:c.C2028A:p.N676K;ENSG00000088756:ENST00000418986:exon14:c.C1551A:p.N517K;	0.82362617867915	0.604
18	6896623	C	G	18	6896624	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.C1551G:p.N517K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.C1551G:p.N517K;ENSG00000088756:ENST00000314319:exon14:c.C1551G:p.N517K;ENSG00000088756:ENST00000262227:exon16:c.C1872G:p.N624K;ENSG00000088756:ENST00000532996:exon14:c.C1497G:p.N499K;ENSG00000088756:ENST00000383472:exon16:c.C2028G:p.N676K;ENSG00000088756:ENST00000531294:exon15:c.C1536G:p.N512K;ENSG00000088756:ENST00000400091:exon16:c.C2028G:p.N676K;ENSG00000088756:ENST00000418986:exon14:c.C1551G:p.N517K;	0.807711142387247	0.428
18	6896623	C	T	18	6896624	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon15:c.C1551T:p.N517N;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.C1551T:p.N517N;ENSG00000088756:ENST00000314319:exon14:c.C1551T:p.N517N;ENSG00000088756:ENST00000262227:exon16:c.C1872T:p.N624N;ENSG00000088756:ENST00000532996:exon14:c.C1497T:p.N499N;ENSG00000088756:ENST00000383472:exon16:c.C2028T:p.N676N;ENSG00000088756:ENST00000531294:exon15:c.C1536T:p.N512N;ENSG00000088756:ENST00000400091:exon16:c.C2028T:p.N676N;ENSG00000088756:ENST00000418986:exon14:c.C1551T:p.N517N;	0.149758243265606	0.376
18	6896624	A	C	18	6896625	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.A1552C:p.S518R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.A1552C:p.S518R;ENSG00000088756:ENST00000314319:exon14:c.A1552C:p.S518R;ENSG00000088756:ENST00000383472:exon16:c.A2029C:p.S677R;ENSG00000088756:ENST00000531294:exon15:c.A1537C:p.S513R;	0.150196711807916	0.458
18	6896624	A	G	18	6896625	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.A1552G:p.S518G;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.A1552G:p.S518G;ENSG00000088756:ENST00000314319:exon14:c.A1552G:p.S518G;ENSG00000088756:ENST00000262227:exon16:c.A1873G:p.R625G;ENSG00000088756:ENST00000532996:exon14:c.A1498G:p.R500G;ENSG00000088756:ENST00000383472:exon16:c.A2029G:p.S677G;ENSG00000088756:ENST00000531294:exon15:c.A1537G:p.S513G;ENSG00000088756:ENST00000400091:exon16:c.A2029G:p.R677G;ENSG00000088756:ENST00000418986:exon14:c.A1552G:p.R518G;	0.500754811335963	0.408
18	6896624	A	T	18	6896625	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.A1552T:p.S518C;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000262227:exon16:c.A1873T:p.R625X;ENSG00000088756:ENST00000532996:exon14:c.A1498T:p.R500X;ENSG00000088756:ENST00000400091:exon16:c.A2029T:p.R677X;ENSG00000088756:ENST00000418986:exon14:c.A1552T:p.R518X;	0.984458086310863	0.542
18	6896625	G	A	18	6896626	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.G1553A:p.S518N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.G1553A:p.S518N;ENSG00000088756:ENST00000314319:exon14:c.G1553A:p.S518N;ENSG00000088756:ENST00000262227:exon16:c.G1874A:p.R625K;ENSG00000088756:ENST00000532996:exon14:c.G1499A:p.R500K;ENSG00000088756:ENST00000383472:exon16:c.G2030A:p.S677N;ENSG00000088756:ENST00000531294:exon15:c.G1538A:p.S513N;ENSG00000088756:ENST00000400091:exon16:c.G2030A:p.R677K;ENSG00000088756:ENST00000418986:exon14:c.G1553A:p.R518K;	0.997558208256654	0.844
18	6896625	G	C	18	6896626	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.G1553C:p.S518T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.G1553C:p.S518T;ENSG00000088756:ENST00000314319:exon14:c.G1553C:p.S518T;ENSG00000088756:ENST00000262227:exon16:c.G1874C:p.R625T;ENSG00000088756:ENST00000532996:exon14:c.G1499C:p.R500T;ENSG00000088756:ENST00000383472:exon16:c.G2030C:p.S677T;ENSG00000088756:ENST00000531294:exon15:c.G1538C:p.S513T;ENSG00000088756:ENST00000400091:exon16:c.G2030C:p.R677T;ENSG00000088756:ENST00000418986:exon14:c.G1553C:p.R518T;	0.808934996071816	0.538
18	6896625	G	T	18	6896626	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon15:c.G1553T:p.S518I;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon15:c.G1553T:p.S518I;ENSG00000088756:ENST00000314319:exon14:c.G1553T:p.S518I;ENSG00000088756:ENST00000262227:exon16:c.G1874T:p.R625I;ENSG00000088756:ENST00000532996:exon14:c.G1499T:p.R500I;ENSG00000088756:ENST00000383472:exon16:c.G2030T:p.S677I;ENSG00000088756:ENST00000531294:exon15:c.G1538T:p.S513I;ENSG00000088756:ENST00000400091:exon16:c.G2030T:p.R677I;ENSG00000088756:ENST00000418986:exon14:c.G1553T:p.R518I;	0.990293407313724	0.838
18	6896626	G	A	18	6896627	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1553+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.2030+1G>A;ENST00000400091:exon16:c.2030+1G>A;ENST00000262227:exon16:c.1874+1G>A;ENST00000419673:exon15:c.1553+1G>A;ENST00000531294:exon15:c.1538+1G>A;ENST00000418986:exon14:c.1553+1G>A;ENST00000314319:exon14:c.1553+1G>A;ENST00000532996:exon14:c.1499+1G>A)	.	.	0.999922517282014	0.744
18	6896626	G	C	18	6896627	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1553+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.2030+1G>C;ENST00000400091:exon16:c.2030+1G>C;ENST00000262227:exon16:c.1874+1G>C;ENST00000419673:exon15:c.1553+1G>C;ENST00000531294:exon15:c.1538+1G>C;ENST00000418986:exon14:c.1553+1G>C;ENST00000314319:exon14:c.1553+1G>C;ENST00000532996:exon14:c.1499+1G>C)	.	.	0.999882727766478	0.768
18	6896626	G	T	18	6896627	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1553+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.2030+1G>T;ENST00000400091:exon16:c.2030+1G>T;ENST00000262227:exon16:c.1874+1G>T;ENST00000419673:exon15:c.1553+1G>T;ENST00000531294:exon15:c.1538+1G>T;ENST00000418986:exon14:c.1553+1G>T;ENST00000314319:exon14:c.1553+1G>T;ENST00000532996:exon14:c.1499+1G>T)	.	.	0.999938778624585	0.754
18	6896627	T	A	18	6896628	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1553+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.2030+2T>A;ENST00000400091:exon16:c.2030+2T>A;ENST00000262227:exon16:c.1874+2T>A;ENST00000419673:exon15:c.1553+2T>A;ENST00000531294:exon15:c.1538+2T>A;ENST00000418986:exon14:c.1553+2T>A;ENST00000314319:exon14:c.1553+2T>A;ENST00000532996:exon14:c.1499+2T>A)	.	.	0.999941977319723	0.774
18	6896627	T	C	18	6896628	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1553+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.2030+2T>C;ENST00000400091:exon16:c.2030+2T>C;ENST00000262227:exon16:c.1874+2T>C;ENST00000419673:exon15:c.1553+2T>C;ENST00000531294:exon15:c.1538+2T>C;ENST00000418986:exon14:c.1553+2T>C;ENST00000314319:exon14:c.1553+2T>C;ENST00000532996:exon14:c.1499+2T>C)	.	.	0.999665741399004	0.68
18	6896627	T	G	18	6896628	y	y	splicing	ARHGAP28(NM_001010000:exon15:c.1553+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon16:c.2030+2T>G;ENST00000400091:exon16:c.2030+2T>G;ENST00000262227:exon16:c.1874+2T>G;ENST00000419673:exon15:c.1553+2T>G;ENST00000531294:exon15:c.1538+2T>G;ENST00000418986:exon14:c.1553+2T>G;ENST00000314319:exon14:c.1553+2T>G;ENST00000532996:exon14:c.1499+2T>G)	.	.	0.999941977319723	0.774
18	6896628	G	A	18	6896629	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.26848964498332E-5	0.0
18	6896628	G	C	18	6896629	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.7729095824755E-4	0.072
18	6896628	G	T	18	6896629	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.42927990380173E-4	0.108
18	6896629	A	C	18	6896630	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.107616094161356	0.364
18	6896629	A	G	18	6896630	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.320803204195293	0.48
18	6896629	A	T	18	6896630	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.627398305052586	0.51
18	6896630	G	A	18	6896631	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.984575109980217	0.612
18	6896630	G	C	18	6896631	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.974152320369812	0.624
18	6896630	G	T	18	6896631	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.994879315530852	0.644
18	6896631	T	A	18	6896632	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00242655165022653	0.072
18	6896631	T	C	18	6896632	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00290863460720704	0.11
18	6896631	T	G	18	6896632	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.13895031750606E-4	0.07
18	6896632	C	A	18	6896633	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.69673633934422E-5	0.0
18	6896632	C	G	18	6896633	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.8892041298197E-5	0.0
18	6896632	C	T	18	6896633	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.14668474105321E-5	0.0
18	6896633	A	C	18	6896634	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.35428655471156E-5	0.004
18	6896633	A	G	18	6896634	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.44891277280084E-5	0.004
18	6896633	A	T	18	6896634	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.35428655471156E-5	0.0
18	6898423	A	C	18	6898424	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.2694790039333E-6	0.002
18	6898423	A	G	18	6898424	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.2694790039333E-6	0.002
18	6898423	A	T	18	6898424	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.2694790039333E-6	0.002
18	6898424	C	A	18	6898425	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898424	C	G	18	6898425	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.88111651461748E-5	0.002
18	6898424	C	T	18	6898425	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898425	T	A	18	6898426	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.37814120173621E-5	0.014
18	6898425	T	C	18	6898426	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.37814120173621E-5	0.016
18	6898425	T	G	18	6898426	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.37814120173621E-5	0.016
18	6898426	T	A	18	6898427	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.7625743089426E-5	0.014
18	6898426	T	C	18	6898427	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.37814120173621E-5	0.016
18	6898426	T	G	18	6898427	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.37814120173621E-5	0.016
18	6898427	G	A	18	6898428	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898427	G	C	18	6898428	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898427	G	T	18	6898428	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898428	C	A	18	6898429	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.19654958573966E-5	0.018
18	6898428	C	G	18	6898429	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.19654958573966E-5	0.018
18	6898428	C	T	18	6898429	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.19654958573966E-5	0.018
18	6898429	T	A	18	6898430	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.99153316237132E-5	0.0
18	6898429	T	C	18	6898430	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.99153316237132E-5	0.0
18	6898429	T	G	18	6898430	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.99153316237132E-5	0.0
18	6898430	C	A	18	6898431	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898430	C	G	18	6898431	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898430	C	T	18	6898431	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898431	C	A	18	6898432	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898431	C	G	18	6898432	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898431	C	T	18	6898432	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.0288925866825E-5	0.002
18	6898432	A	C	18	6898433	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.2694790039333E-6	0.002
18	6898432	A	G	18	6898433	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.2694790039333E-6	0.002
18	6898432	A	T	18	6898433	n	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.2694790039333E-6	0.002
18	6898433	A	C	18	6898434	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000400091:exon17:c.2031-2A>C;ENST00000262227:exon17:c.1875-2A>C;ENST00000418986:exon15:c.1554-2A>C;ENST00000532996:exon15:c.1500-2A>C)	.	.	1.89552819446206E-5	0.002
18	6898433	A	G	18	6898434	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000400091:exon17:c.2031-2A>G;ENST00000262227:exon17:c.1875-2A>G;ENST00000418986:exon15:c.1554-2A>G;ENST00000532996:exon15:c.1500-2A>G)	.	.	1.89552819446206E-5	0.002
18	6898433	A	T	18	6898434	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000400091:exon17:c.2031-2A>T;ENST00000262227:exon17:c.1875-2A>T;ENST00000418986:exon15:c.1554-2A>T;ENST00000532996:exon15:c.1500-2A>T)	.	.	1.89552819446206E-5	0.002
18	6898434	G	A	18	6898435	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000400091:exon17:c.2031-1G>A;ENST00000262227:exon17:c.1875-1G>A;ENST00000418986:exon15:c.1554-1G>A;ENST00000532996:exon15:c.1500-1G>A)	.	.	1.54486999777991E-5	0.006
18	6898434	G	C	18	6898435	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000400091:exon17:c.2031-1G>C;ENST00000262227:exon17:c.1875-1G>C;ENST00000418986:exon15:c.1554-1G>C;ENST00000532996:exon15:c.1500-1G>C)	.	.	2.11441602355052E-5	0.016
18	6898434	G	T	18	6898435	n	y	intronic	ARHGAP28	.	.	splicing	ENSG00000088756(ENST00000400091:exon17:c.2031-1G>T;ENST00000262227:exon17:c.1875-1G>T;ENST00000418986:exon15:c.1554-1G>T;ENST00000532996:exon15:c.1500-1G>T)	.	.	2.11441602355052E-5	0.006
18	6898435	A	C	18	6898436	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon17:c.A1875C:p.R625S;ENSG00000088756:ENST00000532996:exon15:c.A1500C:p.R500S;ENSG00000088756:ENST00000400091:exon17:c.A2031C:p.R677S;ENSG00000088756:ENST00000418986:exon15:c.A1554C:p.R518S;	1.22715807398031E-5	0.002
18	6898435	A	G	18	6898436	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000262227:exon17:c.A1875G:p.R625R;ENSG00000088756:ENST00000532996:exon15:c.A1500G:p.R500R;ENSG00000088756:ENST00000400091:exon17:c.A2031G:p.R677R;ENSG00000088756:ENST00000418986:exon15:c.A1554G:p.R518R;	1.22715807398031E-5	0.002
18	6898435	A	T	18	6898436	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon17:c.A1875T:p.R625S;ENSG00000088756:ENST00000532996:exon15:c.A1500T:p.R500S;ENSG00000088756:ENST00000400091:exon17:c.A2031T:p.R677S;ENSG00000088756:ENST00000418986:exon15:c.A1554T:p.R518S;	1.22715807398031E-5	0.002
18	6898436	A	C	18	6898437	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon17:c.A1876C:p.I626L;ENSG00000088756:ENST00000532996:exon15:c.A1501C:p.I501L;ENSG00000088756:ENST00000400091:exon17:c.A2032C:p.I678L;ENSG00000088756:ENST00000418986:exon15:c.A1555C:p.I519L;	2.45277156108894E-5	0.0
18	6898436	A	G	18	6898437	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon17:c.A1876G:p.I626V;ENSG00000088756:ENST00000532996:exon15:c.A1501G:p.I501V;ENSG00000088756:ENST00000400091:exon17:c.A2032G:p.I678V;ENSG00000088756:ENST00000418986:exon15:c.A1555G:p.I519V;	6.6236404416856E-5	0.004
18	6898436	A	T	18	6898437	n	y	intronic	ARHGAP28	.	.	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000262227:exon17:c.A1876T:p.I626L;ENSG00000088756:ENST00000532996:exon15:c.A1501T:p.I501L;ENSG00000088756:ENST00000400091:exon17:c.A2032T:p.I678L;ENSG00000088756:ENST00000418986:exon15:c.A1555T:p.I519L;	2.45277156108894E-5	0.0
18	6908947	C	A	18	6908948	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.61697075735856E-4	0.008
18	6908947	C	G	18	6908948	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.64335713940785E-4	0.002
18	6908947	C	T	18	6908948	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.39549013547534E-5	0.046
18	6908948	A	C	18	6908949	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.99577239285742E-6	0.008
18	6908948	A	G	18	6908949	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.45645234424735E-6	0.004
18	6908948	A	T	18	6908949	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.47226774734786E-5	0.074
18	6908949	T	A	18	6908950	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.0956119706377E-4	0.09
18	6908949	T	C	18	6908950	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.09076861979838E-5	0.0
18	6908949	T	G	18	6908950	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999941454600944	0.942
18	6908950	T	A	18	6908951	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.00304197752557E-4	0.244
18	6908950	T	C	18	6908951	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.99355472797444E-4	0.01
18	6908950	T	G	18	6908951	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00139511644315088	0.262
18	6908951	T	A	18	6908952	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00545554495939537	0.196
18	6908951	T	C	18	6908952	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00133291862066285	0.05
18	6908951	T	G	18	6908952	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00388622898210961	0.144
18	6908952	T	A	18	6908953	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.34390419150679E-4	0.028
18	6908952	T	C	18	6908953	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.82206109796169E-5	0.0
18	6908952	T	G	18	6908953	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.04864422114072E-4	0.03
18	6908953	T	A	18	6908954	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0110030441742076	0.13
18	6908953	T	C	18	6908954	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.43227387347967E-4	0.008
18	6908953	T	G	18	6908954	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00892467174855097	0.154
18	6908954	T	A	18	6908955	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00590118218656186	0.218
18	6908954	T	C	18	6908955	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	5.0929684583847E-4	0.018
18	6908954	T	G	18	6908955	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.218993231834663	0.29
18	6908955	T	A	18	6908956	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.28447134163355E-5	0.0
18	6908955	T	C	18	6908956	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.53000802409393E-5	0.0
18	6908955	T	G	18	6908956	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.90485317673581E-5	0.0
18	6908956	C	A	18	6908957	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.636174965270767	0.462
18	6908956	C	G	18	6908957	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.999336752890053	0.894
18	6908956	C	T	18	6908957	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	4.51340540178458E-4	0.02
18	6908957	A	C	18	6908958	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1554-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2031-2A>C;ENST00000419673:exon16:c.1554-2A>C;ENST00000531294:exon16:c.1539-2A>C;ENST00000314319:exon15:c.1554-2A>C)	.	.	0.999988247793601	0.93
18	6908957	A	G	18	6908958	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1554-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2031-2A>G;ENST00000419673:exon16:c.1554-2A>G;ENST00000531294:exon16:c.1539-2A>G;ENST00000314319:exon15:c.1554-2A>G)	.	.	0.999988247793601	0.93
18	6908957	A	T	18	6908958	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1554-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2031-2A>T;ENST00000419673:exon16:c.1554-2A>T;ENST00000531294:exon16:c.1539-2A>T;ENST00000314319:exon15:c.1554-2A>T)	.	.	0.999988247793601	0.932
18	6908958	G	A	18	6908959	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1554-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2031-1G>A;ENST00000419673:exon16:c.1554-1G>A;ENST00000531294:exon16:c.1539-1G>A;ENST00000314319:exon15:c.1554-1G>A)	.	.	0.999990361384395	0.938
18	6908958	G	C	18	6908959	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1554-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2031-1G>C;ENST00000419673:exon16:c.1554-1G>C;ENST00000531294:exon16:c.1539-1G>C;ENST00000314319:exon15:c.1554-1G>C)	.	.	0.999990361384395	0.938
18	6908958	G	T	18	6908959	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1554-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2031-1G>T;ENST00000419673:exon16:c.1554-1G>T;ENST00000531294:exon16:c.1539-1G>T;ENST00000314319:exon15:c.1554-1G>T)	.	.	0.999990361384395	0.938
18	6908959	T	A	18	6908960	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.T1554A:p.S518R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.T1554A:p.S518R;ENSG00000088756:ENST00000314319:exon15:c.T1554A:p.S518R;ENSG00000088756:ENST00000383472:exon17:c.T2031A:p.S677R;ENSG00000088756:ENST00000531294:exon16:c.T1539A:p.S513R;	1.95860889002439E-4	0.0
18	6908959	T	C	18	6908960	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon16:c.T1554C:p.S518S;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.T1554C:p.S518S;ENSG00000088756:ENST00000314319:exon15:c.T1554C:p.S518S;ENSG00000088756:ENST00000383472:exon17:c.T2031C:p.S677S;ENSG00000088756:ENST00000531294:exon16:c.T1539C:p.S513S;	3.46945637533659E-4	0.042
18	6908959	T	G	18	6908960	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.T1554G:p.S518R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.T1554G:p.S518R;ENSG00000088756:ENST00000314319:exon15:c.T1554G:p.S518R;ENSG00000088756:ENST00000383472:exon17:c.T2031G:p.S677R;ENSG00000088756:ENST00000531294:exon16:c.T1539G:p.S513R;	3.33411913158336E-4	0.09
18	6908960	C	A	18	6908961	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.C1555A:p.H519N;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.C1555A:p.H519N;ENSG00000088756:ENST00000314319:exon15:c.C1555A:p.H519N;ENSG00000088756:ENST00000383472:exon17:c.C2032A:p.H678N;ENSG00000088756:ENST00000531294:exon16:c.C1540A:p.H514N;	4.23390347624749E-4	0.008
18	6908960	C	G	18	6908961	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.C1555G:p.H519D;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.C1555G:p.H519D;ENSG00000088756:ENST00000314319:exon15:c.C1555G:p.H519D;ENSG00000088756:ENST00000383472:exon17:c.C2032G:p.H678D;ENSG00000088756:ENST00000531294:exon16:c.C1540G:p.H514D;	1.45516672392615E-4	0.026
18	6908960	C	T	18	6908961	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.C1555T:p.H519Y;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.C1555T:p.H519Y;ENSG00000088756:ENST00000314319:exon15:c.C1555T:p.H519Y;ENSG00000088756:ENST00000383472:exon17:c.C2032T:p.H678Y;ENSG00000088756:ENST00000531294:exon16:c.C1540T:p.H514Y;	2.53615676370406E-4	0.012
18	6909021	T	A	18	6909022	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.T1616A:p.I539K;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.T1616A:p.I539K;ENSG00000088756:ENST00000314319:exon15:c.T1616A:p.I539K;ENSG00000088756:ENST00000383472:exon17:c.T2093A:p.I698K;ENSG00000088756:ENST00000531294:exon16:c.T1601A:p.I534K;	0.0115340584044332	0.152
18	6909021	T	C	18	6909022	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.T1616C:p.I539T;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.T1616C:p.I539T;ENSG00000088756:ENST00000314319:exon15:c.T1616C:p.I539T;ENSG00000088756:ENST00000383472:exon17:c.T2093C:p.I698T;ENSG00000088756:ENST00000531294:exon16:c.T1601C:p.I534T;	0.00149077583685056	0.01
18	6909021	T	G	18	6909022	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.T1616G:p.I539R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.T1616G:p.I539R;ENSG00000088756:ENST00000314319:exon15:c.T1616G:p.I539R;ENSG00000088756:ENST00000383472:exon17:c.T2093G:p.I698R;ENSG00000088756:ENST00000531294:exon16:c.T1601G:p.I534R;	0.00605989796835342	0.03
18	6909022	A	C	18	6909023	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon16:c.A1617C:p.I539I;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.A1617C:p.I539I;ENSG00000088756:ENST00000314319:exon15:c.A1617C:p.I539I;ENSG00000088756:ENST00000383472:exon17:c.A2094C:p.I698I;ENSG00000088756:ENST00000531294:exon16:c.A1602C:p.I534I;	0.109183102390865	0.522
18	6909022	A	G	18	6909023	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.A1617G:p.I539M;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.A1617G:p.I539M;ENSG00000088756:ENST00000314319:exon15:c.A1617G:p.I539M;ENSG00000088756:ENST00000383472:exon17:c.A2094G:p.I698M;ENSG00000088756:ENST00000531294:exon16:c.A1602G:p.I534M;	0.055542978691435	0.218
18	6909022	A	T	18	6909023	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon16:c.A1617T:p.I539I;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.A1617T:p.I539I;ENSG00000088756:ENST00000314319:exon15:c.A1617T:p.I539I;ENSG00000088756:ENST00000383472:exon17:c.A2094T:p.I698I;ENSG00000088756:ENST00000531294:exon16:c.A1602T:p.I534I;	0.180714136550322	0.502
18	6909023	G	A	18	6909024	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.G1618A:p.G540R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.G1618A:p.G540R;ENSG00000088756:ENST00000314319:exon15:c.G1618A:p.G540R;ENSG00000088756:ENST00000383472:exon17:c.G2095A:p.G699R;ENSG00000088756:ENST00000531294:exon16:c.G1603A:p.G535R;	0.99978149642119	0.978
18	6909023	G	C	18	6909024	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon16:c.G1618C:p.G540R;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon16:c.G1618C:p.G540R;ENSG00000088756:ENST00000314319:exon15:c.G1618C:p.G540R;ENSG00000088756:ENST00000383472:exon17:c.G2095C:p.G699R;ENSG00000088756:ENST00000531294:exon16:c.G1603C:p.G535R;	0.999866104902923	0.922
18	6909023	G	T	18	6909024	y	y	exonic	ARHGAP28	stopgain SNV	ARHGAP28:NM_001010000:exon16:c.G1618T:p.G540X;	exonic	ENSG00000088756	stopgain SNV	ENSG00000088756:ENST00000419673:exon16:c.G1618T:p.G540X;ENSG00000088756:ENST00000314319:exon15:c.G1618T:p.G540X;ENSG00000088756:ENST00000383472:exon17:c.G2095T:p.G699X;ENSG00000088756:ENST00000531294:exon16:c.G1603T:p.G535X;	0.999954567451166	0.944
18	6909024	G	A	18	6909025	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1618+1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2095+1G>A;ENST00000419673:exon16:c.1618+1G>A;ENST00000531294:exon16:c.1603+1G>A;ENST00000314319:exon15:c.1618+1G>A)	.	.	0.999990361384395	0.938
18	6909024	G	C	18	6909025	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1618+1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2095+1G>C;ENST00000419673:exon16:c.1618+1G>C;ENST00000531294:exon16:c.1603+1G>C;ENST00000314319:exon15:c.1618+1G>C)	.	.	0.999990361384395	0.938
18	6909024	G	T	18	6909025	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1618+1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2095+1G>T;ENST00000419673:exon16:c.1618+1G>T;ENST00000531294:exon16:c.1603+1G>T;ENST00000314319:exon15:c.1618+1G>T)	.	.	0.999990361384395	0.938
18	6909025	T	A	18	6909026	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1618+2T>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2095+2T>A;ENST00000419673:exon16:c.1618+2T>A;ENST00000531294:exon16:c.1603+2T>A;ENST00000314319:exon15:c.1618+2T>A)	.	.	0.999988247793601	0.93
18	6909025	T	C	18	6909026	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1618+2T>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2095+2T>C;ENST00000419673:exon16:c.1618+2T>C;ENST00000531294:exon16:c.1603+2T>C;ENST00000314319:exon15:c.1618+2T>C)	.	.	0.98918007292081	0.674
18	6909025	T	G	18	6909026	y	y	splicing	ARHGAP28(NM_001010000:exon16:c.1618+2T>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon17:c.2095+2T>G;ENST00000419673:exon16:c.1618+2T>G;ENST00000531294:exon16:c.1603+2T>G;ENST00000314319:exon15:c.1618+2T>G)	.	.	0.999988247793601	0.93
18	6909026	A	C	18	6909027	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.996307723593718	0.844
18	6909026	A	G	18	6909027	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0224543677831365	0.2
18	6909026	A	T	18	6909027	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.995242278692435	0.79
18	6909027	A	C	18	6909028	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.889277248591572	0.6
18	6909027	A	G	18	6909028	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.951470301227677	0.65
18	6909027	A	T	18	6909028	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.898934649451304	0.614
18	6909028	G	A	18	6909029	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.984594177952658	0.754
18	6909028	G	C	18	6909029	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.977675862225535	0.752
18	6909028	G	T	18	6909029	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.993632758470844	0.848
18	6909029	C	A	18	6909030	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	9.85182229947752E-5	0.014
18	6909029	C	G	18	6909030	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.77376921015949E-4	0.032
18	6909029	C	T	18	6909030	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.63067329526167E-5	0.002
18	6909030	A	C	18	6909031	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.87318669744779E-4	0.006
18	6909030	A	G	18	6909031	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.98794560312763E-4	0.0
18	6909030	A	T	18	6909031	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.52154612025996E-4	0.002
18	6909031	T	A	18	6909032	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.46864935049656E-5	0.01
18	6909031	T	C	18	6909032	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.46864935049656E-5	0.01
18	6909031	T	G	18	6909032	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.10586310302752E-5	0.008
18	6912047	T	A	18	6912048	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00114166019384222	0.136
18	6912047	T	C	18	6912048	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	2.06404372121028E-4	0.004
18	6912047	T	G	18	6912048	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0011707774497357	0.136
18	6912048	C	A	18	6912049	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.77253643443252E-4	0.104
18	6912048	C	G	18	6912049	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.5887833889254E-4	0.04
18	6912048	C	T	18	6912049	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.62373658680865E-5	0.004
18	6912049	T	A	18	6912050	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.964120276964493	0.544
18	6912049	T	C	18	6912050	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.218926290753078	0.404
18	6912049	T	G	18	6912050	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.840730346005863	0.484
18	6912050	T	A	18	6912051	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	8.84366363483559E-4	0.088
18	6912050	T	C	18	6912051	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.57292139555029E-4	0.006
18	6912050	T	G	18	6912051	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00140065034684444	0.128
18	6912051	T	A	18	6912052	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00154236968501028	0.122
18	6912051	T	C	18	6912052	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.25456899949507E-4	0.0
18	6912051	T	G	18	6912052	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	7.23447728296812E-4	0.072
18	6912052	C	A	18	6912053	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.20220426062645E-4	0.024
18	6912052	C	G	18	6912053	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.48008743658775E-4	0.028
18	6912052	C	T	18	6912053	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.8941596671709E-5	0.002
18	6912053	T	A	18	6912054	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0112083573759352	0.08
18	6912053	T	C	18	6912054	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	6.64554987609925E-4	0.004
18	6912053	T	G	18	6912054	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0256788954205527	0.142
18	6912054	T	A	18	6912055	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.158612276073201	0.422
18	6912054	T	C	18	6912055	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.00662744309589651	0.126
18	6912054	T	G	18	6912055	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.241042004585514	0.44
18	6912055	T	A	18	6912056	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	3.54333220441369E-4	0.02
18	6912055	T	C	18	6912056	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.42313884971846E-4	0.004
18	6912055	T	G	18	6912056	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.584499240759E-4	0.014
18	6912056	T	A	18	6912057	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.0797694240800088	0.29
18	6912056	T	C	18	6912057	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	1.34478698962013E-4	0.01
18	6912056	T	G	18	6912057	y	y	intronic	ARHGAP28	.	.	intronic	ENSG00000088756	.	.	0.934797188603044	0.752
18	6912057	A	C	18	6912058	y	y	splicing	ARHGAP28(NM_001010000:exon17:c.1619-2A>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon18:c.2096-2A>C;ENST00000419673:exon17:c.1619-2A>C;ENST00000531294:exon17:c.1604-2A>C;ENST00000314319:exon16:c.1619-2A>C)	.	.	0.999988247793601	0.932
18	6912057	A	G	18	6912058	y	y	splicing	ARHGAP28(NM_001010000:exon17:c.1619-2A>G)	.	.	splicing	ENSG00000088756(ENST00000383472:exon18:c.2096-2A>G;ENST00000419673:exon17:c.1619-2A>G;ENST00000531294:exon17:c.1604-2A>G;ENST00000314319:exon16:c.1619-2A>G)	.	.	0.999988247793601	0.932
18	6912057	A	T	18	6912058	y	y	splicing	ARHGAP28(NM_001010000:exon17:c.1619-2A>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon18:c.2096-2A>T;ENST00000419673:exon17:c.1619-2A>T;ENST00000531294:exon17:c.1604-2A>T;ENST00000314319:exon16:c.1619-2A>T)	.	.	0.999988247793601	0.932
18	6912058	G	A	18	6912059	y	y	splicing	ARHGAP28(NM_001010000:exon17:c.1619-1G>A)	.	.	splicing	ENSG00000088756(ENST00000383472:exon18:c.2096-1G>A;ENST00000419673:exon17:c.1619-1G>A;ENST00000531294:exon17:c.1604-1G>A;ENST00000314319:exon16:c.1619-1G>A)	.	.	0.999990361384395	0.938
18	6912058	G	C	18	6912059	y	y	splicing	ARHGAP28(NM_001010000:exon17:c.1619-1G>C)	.	.	splicing	ENSG00000088756(ENST00000383472:exon18:c.2096-1G>C;ENST00000419673:exon17:c.1619-1G>C;ENST00000531294:exon17:c.1604-1G>C;ENST00000314319:exon16:c.1619-1G>C)	.	.	0.999990361384395	0.938
18	6912058	G	T	18	6912059	y	y	splicing	ARHGAP28(NM_001010000:exon17:c.1619-1G>T)	.	.	splicing	ENSG00000088756(ENST00000383472:exon18:c.2096-1G>T;ENST00000419673:exon17:c.1619-1G>T;ENST00000531294:exon17:c.1604-1G>T;ENST00000314319:exon16:c.1619-1G>T)	.	.	0.999990361384395	0.938
18	6912059	G	A	18	6912060	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon17:c.G1619A:p.G540E;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon17:c.G1619A:p.G540E;ENSG00000088756:ENST00000314319:exon16:c.G1619A:p.G540E;ENSG00000088756:ENST00000383472:exon18:c.G2096A:p.G699E;ENSG00000088756:ENST00000531294:exon17:c.G1604A:p.G535E;	0.99708620027625	0.74
18	6912059	G	C	18	6912060	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon17:c.G1619C:p.G540A;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon17:c.G1619C:p.G540A;ENSG00000088756:ENST00000314319:exon16:c.G1619C:p.G540A;ENSG00000088756:ENST00000383472:exon18:c.G2096C:p.G699A;ENSG00000088756:ENST00000531294:exon17:c.G1604C:p.G535A;	0.997901065751036	0.882
18	6912059	G	T	18	6912060	y	y	exonic	ARHGAP28	nonsynonymous SNV	ARHGAP28:NM_001010000:exon17:c.G1619T:p.G540V;	exonic	ENSG00000088756	nonsynonymous SNV	ENSG00000088756:ENST00000419673:exon17:c.G1619T:p.G540V;ENSG00000088756:ENST00000314319:exon16:c.G1619T:p.G540V;ENSG00000088756:ENST00000383472:exon18:c.G2096T:p.G699V;ENSG00000088756:ENST00000531294:exon17:c.G1604T:p.G535V;	0.999347563164731	0.908
18	6912060	A	C	18	6912061	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon17:c.A1620C:p.G540G;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon17:c.A1620C:p.G540G;ENSG00000088756:ENST00000314319:exon16:c.A1620C:p.G540G;ENSG00000088756:ENST00000383472:exon18:c.A2097C:p.G699G;ENSG00000088756:ENST00000531294:exon17:c.A1605C:p.G535G;	1.34139686807072E-4	0.004
18	6912060	A	G	18	6912061	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon17:c.A1620G:p.G540G;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon17:c.A1620G:p.G540G;ENSG00000088756:ENST00000314319:exon16:c.A1620G:p.G540G;ENSG00000088756:ENST00000383472:exon18:c.A2097G:p.G699G;ENSG00000088756:ENST00000531294:exon17:c.A1605G:p.G535G;	6.96728310150085E-5	0.014
18	6912060	A	T	18	6912061	y	y	exonic	ARHGAP28	synonymous SNV	ARHGAP28:NM_001010000:exon17:c.A1620T:p.G540G;	exonic	ENSG00000088756	synonymous SNV	ENSG00000088756:ENST00000419673:exon17:c.A1620T:p.G540G;ENSG00000088756:ENST00000314319:exon16:c.A1620T:p.G540G;ENSG00000088756:ENST00000383472:exon18:c.A2097T:p.G699G;ENSG00000088756:ENST00000531294:exon17:c.A1605T:p.G535G;	4.39276439901523E-5	0.006
18	6942237	A	C	18	6942238	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon63:c.T9069G:p.A3023A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon63:c.T9069G:p.A3023A;	2.28058803890831E-4	0.026
18	6942237	A	G	18	6942238	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon63:c.T9069C:p.A3023A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon63:c.T9069C:p.A3023A;	1.29733169261154E-4	0.09
18	6942237	A	T	18	6942238	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon63:c.T9069A:p.A3023A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon63:c.T9069A:p.A3023A;	2.83401988142907E-4	0.032
18	6942238	G	A	18	6942239	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon63:c.C9068T:p.A3023V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon63:c.C9068T:p.A3023V;	7.97384358114282E-4	0.264
18	6942238	G	C	18	6942239	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon63:c.C9068G:p.A3023G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon63:c.C9068G:p.A3023G;	1.32856609581826E-4	0.07
18	6942238	G	T	18	6942239	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon63:c.C9068A:p.A3023D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon63:c.C9068A:p.A3023D;	5.2405097932029E-5	0.008
18	6942239	C	A	18	6942240	y	y	splicing	LAMA1(NM_005559:exon64:c.9068-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon64:c.9068-1G>T)	.	.	0.999971209564868	0.936
18	6942239	C	G	18	6942240	y	y	splicing	LAMA1(NM_005559:exon64:c.9068-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon64:c.9068-1G>C)	.	.	0.999970205305079	0.922
18	6942239	C	T	18	6942240	y	y	splicing	LAMA1(NM_005559:exon64:c.9068-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon64:c.9068-1G>A)	.	.	0.999971209564868	0.938
18	6942240	T	A	18	6942241	y	y	splicing	LAMA1(NM_005559:exon64:c.9068-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon64:c.9068-2A>T)	.	.	0.999964896440643	0.934
18	6942240	T	C	18	6942241	y	y	splicing	LAMA1(NM_005559:exon64:c.9068-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon64:c.9068-2A>G)	.	.	0.999951957019574	0.896
18	6942240	T	G	18	6942241	y	y	splicing	LAMA1(NM_005559:exon64:c.9068-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon64:c.9068-2A>C)	.	.	0.999951957019574	0.88
18	6942241	G	A	18	6942242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0188446793579404	0.172
18	6942241	G	C	18	6942242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999769827581787	0.948
18	6942241	G	T	18	6942242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992726489282577	0.794
18	6942242	T	A	18	6942243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.53785219725942E-4	0.042
18	6942242	T	C	18	6942243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.585681004010174	0.512
18	6942242	T	G	18	6942243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.60537667736497E-4	0.128
18	6942243	T	A	18	6942244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.21784930654963E-5	0.004
18	6942243	T	C	18	6942244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.81101307367006E-5	0.026
18	6942243	T	G	18	6942244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.2162444322398E-5	0.006
18	6942244	C	A	18	6942245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.02754041143724E-5	0.022
18	6942244	C	G	18	6942245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.78744224851368E-5	0.034
18	6942244	C	T	18	6942245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.23579400300037E-5	0.008
18	6942245	A	C	18	6942246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.3553976127187E-4	0.07
18	6942245	A	G	18	6942246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.90847919015743E-5	0.0
18	6942245	A	T	18	6942246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.959792733123395	0.652
18	6942246	G	A	18	6942247	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.51490742012727E-5	0.004
18	6942246	G	C	18	6942247	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.67966481495277E-4	0.102
18	6942246	G	T	18	6942247	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.84812960551019E-4	0.062
18	6942247	G	A	18	6942248	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.92130124772347E-4	0.02
18	6942247	G	C	18	6942248	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00673543068904447	0.208
18	6942247	G	T	18	6942248	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00545668922723763	0.168
18	6942248	A	C	18	6942249	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0209655156537929	0.24
18	6942248	A	G	18	6942249	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.16169864178351E-4	0.0
18	6942248	A	T	18	6942249	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0725295140542962	0.35
18	6942249	A	C	18	6942250	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.291297235103782	0.564
18	6942249	A	G	18	6942250	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0215053661376775	0.182
18	6942249	A	T	18	6942250	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.728605283263018	0.612
18	6942250	A	C	18	6942251	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.804087614398164	0.532
18	6942250	A	G	18	6942251	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.18861610421119E-4	0.028
18	6942250	A	T	18	6942251	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.920347591278845	0.572
18	6943171	G	A	18	6943172	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.64745399314608E-5	0.0
18	6943171	G	C	18	6943172	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.89144881932328E-4	0.0
18	6943171	G	T	18	6943172	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.63386902974576E-4	0.0
18	6943172	T	A	18	6943173	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.00254316587307E-5	0.0
18	6943172	T	C	18	6943173	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.01606253311083E-5	0.006
18	6943172	T	G	18	6943173	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.10778896013591E-5	0.0
18	6943173	A	C	18	6943174	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0133405167413898	0.242
18	6943173	A	G	18	6943174	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0322580241463318	0.322
18	6943173	A	T	18	6943174	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0391345767725484	0.348
18	6943174	C	A	18	6943175	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999863833019689	0.956
18	6943174	C	G	18	6943175	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999957713671657	0.99
18	6943174	C	T	18	6943175	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999821506784679	0.978
18	6943175	A	C	18	6943176	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.32868441468583E-4	0.0
18	6943175	A	G	18	6943176	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.00830407180143E-4	0.0
18	6943175	A	T	18	6943176	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.16368014756713E-4	0.046
18	6943176	T	A	18	6943177	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998085904560105	0.844
18	6943176	T	C	18	6943177	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.96154282097303	0.668
18	6943176	T	G	18	6943177	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999071610209259	0.898
18	6943177	A	C	18	6943178	y	y	splicing	LAMA1(NM_005559:exon63:c.9067+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.9067+2T>G)	.	.	0.999988247793601	0.93
18	6943177	A	G	18	6943178	y	y	splicing	LAMA1(NM_005559:exon63:c.9067+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.9067+2T>C)	.	.	0.99340600729494	0.67
18	6943177	A	T	18	6943178	y	y	splicing	LAMA1(NM_005559:exon63:c.9067+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.9067+2T>A)	.	.	0.999988247793601	0.93
18	6943178	C	A	18	6943179	y	y	splicing	LAMA1(NM_005559:exon63:c.9067+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.9067+1G>T)	.	.	0.999985532734767	0.938
18	6943178	C	G	18	6943179	y	y	splicing	LAMA1(NM_005559:exon63:c.9067+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.9067+1G>C)	.	.	0.999985532734767	0.938
18	6943178	C	T	18	6943179	y	y	splicing	LAMA1(NM_005559:exon63:c.9067+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.9067+1G>A)	.	.	0.999985532734767	0.938
18	6943179	C	A	18	6943180	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.G9067T:p.A3023S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.G9067T:p.A3023S;	0.99999344918899	1.0
18	6943179	C	G	18	6943180	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.G9067C:p.A3023P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.G9067C:p.A3023P;	0.999996838972057	0.988
18	6943179	C	T	18	6943180	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.G9067A:p.A3023T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.G9067A:p.A3023T;	0.999989442499568	0.996
18	6943180	A	C	18	6943181	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon62:c.T9066G:p.P3022P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.T9066G:p.P3022P;	7.41683270706144E-4	0.058
18	6943180	A	G	18	6943181	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon62:c.T9066C:p.P3022P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.T9066C:p.P3022P;	5.13900042143555E-4	0.032
18	6943180	A	T	18	6943181	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon62:c.T9066A:p.P3022P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.T9066A:p.P3022P;	3.9416513672097E-4	0.19
18	6943181	G	A	18	6943182	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.C9065T:p.P3022L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.C9065T:p.P3022L;	0.999327202766192	0.808
18	6943181	G	C	18	6943182	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.C9065G:p.P3022R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.C9065G:p.P3022R;	0.929521433875397	0.63
18	6943181	G	T	18	6943182	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.C9065A:p.P3022H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.C9065A:p.P3022H;	0.957736990535326	0.81
18	6943400	A	C	18	6943401	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.T8846G:p.V2949G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.T8846G:p.V2949G;	0.277684982531113	0.406
18	6943400	A	G	18	6943401	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.T8846C:p.V2949A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.T8846C:p.V2949A;	0.355703573539024	0.516
18	6943400	A	T	18	6943401	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.T8846A:p.V2949D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.T8846A:p.V2949D;	0.222081072630395	0.424
18	6943401	C	A	18	6943402	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.G8845T:p.V2949F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.G8845T:p.V2949F;	0.949717236393556	0.438
18	6943401	C	G	18	6943402	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.G8845C:p.V2949L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.G8845C:p.V2949L;	0.00724844530428374	0.248
18	6943401	C	T	18	6943402	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon62:c.G8845A:p.V2949I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon62:c.G8845A:p.V2949I;	6.04058093736797E-4	0.072
18	6943402	C	A	18	6943403	y	y	splicing	LAMA1(NM_005559:exon63:c.8845-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.8845-1G>T)	.	.	0.999986675681007	0.932
18	6943402	C	G	18	6943403	y	y	splicing	LAMA1(NM_005559:exon63:c.8845-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.8845-1G>C)	.	.	0.999986675681007	0.932
18	6943402	C	T	18	6943403	y	y	splicing	LAMA1(NM_005559:exon63:c.8845-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.8845-1G>A)	.	.	0.999986675681007	0.932
18	6943403	T	A	18	6943404	y	y	splicing	LAMA1(NM_005559:exon63:c.8845-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.8845-2A>T)	.	.	0.999990155693597	0.926
18	6943403	T	C	18	6943404	y	y	splicing	LAMA1(NM_005559:exon63:c.8845-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.8845-2A>G)	.	.	0.999990155693597	0.926
18	6943403	T	G	18	6943404	y	y	splicing	LAMA1(NM_005559:exon63:c.8845-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon63:c.8845-2A>C)	.	.	0.999990155693597	0.926
18	6943404	A	C	18	6943405	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998929928745049	0.704
18	6943404	A	G	18	6943405	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.69040014761953E-4	0.022
18	6943404	A	T	18	6943405	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0144323596537954	0.286
18	6943405	A	C	18	6943406	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00151491617022566	0.012
18	6943405	A	G	18	6943406	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.91236553487572E-5	0.006
18	6943405	A	T	18	6943406	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.70446174220326E-4	0.024
18	6943406	A	C	18	6943407	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.952011573573276	0.518
18	6943406	A	G	18	6943407	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.01053654642343E-4	0.074
18	6943406	A	T	18	6943407	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.938925475393578	0.512
18	6943407	A	C	18	6943408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.110413907341426	0.442
18	6943407	A	G	18	6943408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.27175301179886E-5	0.0
18	6943407	A	T	18	6943408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0529889830970498	0.318
18	6943408	G	A	18	6943409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.27397930736886E-4	0.034
18	6943408	G	C	18	6943409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00662274014329211	0.188
18	6943408	G	T	18	6943409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0096935632844469	0.206
18	6943409	C	A	18	6943410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.99318447779277E-6	0.0
18	6943409	C	G	18	6943410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.99318447779277E-6	0.0
18	6943409	C	T	18	6943410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.94764337218195E-5	0.0
18	6943410	A	C	18	6943411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00759828208876337	0.298
18	6943410	A	G	18	6943411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.42415433383731E-5	0.006
18	6943410	A	T	18	6943411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999914043807095	0.962
18	6943411	A	C	18	6943412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00690631771259236	0.204
18	6943411	A	G	18	6943412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.54800828890687E-5	0.002
18	6943411	A	T	18	6943412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0241112513527521	0.22
18	6943412	A	C	18	6943413	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997932184148621	0.894
18	6943412	A	G	18	6943413	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00122723560374469	0.024
18	6943412	A	T	18	6943413	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.349875018641941	0.364
18	6943413	T	A	18	6943414	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.28184111890689E-5	0.006
18	6943413	T	C	18	6943414	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.2435112877403E-5	0.004
18	6943413	T	G	18	6943414	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.28184111890689E-5	0.0
18	6947154	G	A	18	6947155	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.15075608633591E-4	0.006
18	6947154	G	C	18	6947155	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.52775878560968E-4	0.05
18	6947154	G	T	18	6947155	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.15075608633591E-4	0.006
18	6947155	C	A	18	6947156	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26893917141666E-4	0.004
18	6947155	C	G	18	6947156	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.48917968885942E-4	0.0
18	6947155	C	T	18	6947156	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.19365061767189E-5	0.0
18	6947156	A	C	18	6947157	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0685408486071675	0.28
18	6947156	A	G	18	6947157	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0375995665715911	0.202
18	6947156	A	T	18	6947157	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.205865573480768	0.292
18	6947157	C	A	18	6947158	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999640370628723	0.934
18	6947157	C	G	18	6947158	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999969117275778	0.994
18	6947157	C	T	18	6947158	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998890637240562	0.97
18	6947158	C	A	18	6947159	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.66261091394426E-4	0.046
18	6947158	C	G	18	6947159	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.24655131263281E-5	0.04
18	6947158	C	T	18	6947159	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.80019557165569E-4	0.06
18	6947159	C	A	18	6947160	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0144345436117746	0.276
18	6947159	C	G	18	6947160	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00903384155025853	0.256
18	6947159	C	T	18	6947160	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.35417375936544E-4	0.094
18	6947160	A	C	18	6947161	y	y	splicing	LAMA1(NM_005559:exon62:c.8844+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8844+2T>G)	.	.	0.99996509239462	0.934
18	6947160	A	G	18	6947161	y	y	splicing	LAMA1(NM_005559:exon62:c.8844+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8844+2T>C)	.	.	0.999720584345666	0.868
18	6947160	A	T	18	6947161	y	y	splicing	LAMA1(NM_005559:exon62:c.8844+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8844+2T>A)	.	.	0.99996509239462	0.93
18	6947161	C	A	18	6947162	y	y	splicing	LAMA1(NM_005559:exon62:c.8844+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8844+1G>T)	.	.	0.999982737877662	0.918
18	6947161	C	G	18	6947162	y	y	splicing	LAMA1(NM_005559:exon62:c.8844+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8844+1G>C)	.	.	0.99995545544995	0.918
18	6947161	C	T	18	6947162	y	y	splicing	LAMA1(NM_005559:exon62:c.8844+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8844+1G>A)	.	.	0.999982737877662	0.924
18	6947162	C	A	18	6947163	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.G8844T:p.K2948N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.G8844T:p.K2948N;	0.999990926094735	0.986
18	6947162	C	G	18	6947163	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.G8844C:p.K2948N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.G8844C:p.K2948N;	0.999997764134874	0.998
18	6947162	C	T	18	6947163	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon61:c.G8844A:p.K2948K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.G8844A:p.K2948K;	0.999863035469034	0.922
18	6947163	T	A	18	6947164	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.A8843T:p.K2948M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.A8843T:p.K2948M;	0.999838299341797	0.994
18	6947163	T	C	18	6947164	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.A8843G:p.K2948R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.A8843G:p.K2948R;	0.999875425814856	1.0
18	6947163	T	G	18	6947164	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.A8843C:p.K2948T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.A8843C:p.K2948T;	0.999554720804745	0.968
18	6947164	T	A	18	6947165	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon61:c.A8842T:p.K2948X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon61:c.A8842T:p.K2948X;	0.577294124638123	0.654
18	6947164	T	C	18	6947165	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.A8842G:p.K2948E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.A8842G:p.K2948E;	0.0128564162312439	0.112
18	6947164	T	G	18	6947165	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.A8842C:p.K2948Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.A8842C:p.K2948Q;	5.00911831301876E-4	0.026
18	6947294	G	A	18	6947295	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon61:c.C8712T:p.V2904V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.C8712T:p.V2904V;	9.01327654959449E-5	0.01
18	6947294	G	C	18	6947295	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon61:c.C8712G:p.V2904V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.C8712G:p.V2904V;	6.95591713248752E-5	0.0
18	6947294	G	T	18	6947295	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon61:c.C8712A:p.V2904V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.C8712A:p.V2904V;	2.8022915475377E-4	0.024
18	6947295	A	C	18	6947296	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.T8711G:p.V2904G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.T8711G:p.V2904G;	0.0022549355741398	0.132
18	6947295	A	G	18	6947296	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.T8711C:p.V2904A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.T8711C:p.V2904A;	6.67287628674298E-4	0.004
18	6947295	A	T	18	6947296	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon61:c.T8711A:p.V2904D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon61:c.T8711A:p.V2904D;	0.0157071326496872	0.086
18	6947296	C	A	18	6947297	y	y	splicing	LAMA1(NM_005559:exon62:c.8711-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8711-1G>T)	.	.	0.999987252934338	0.92
18	6947296	C	G	18	6947297	y	y	splicing	LAMA1(NM_005559:exon62:c.8711-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8711-1G>C)	.	.	0.99998344156357	0.92
18	6947296	C	T	18	6947297	y	y	splicing	LAMA1(NM_005559:exon62:c.8711-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8711-1G>A)	.	.	0.999987252934338	0.918
18	6947297	T	A	18	6947298	y	y	splicing	LAMA1(NM_005559:exon62:c.8711-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8711-2A>T)	.	.	0.999949366401994	0.894
18	6947297	T	C	18	6947298	y	y	splicing	LAMA1(NM_005559:exon62:c.8711-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8711-2A>G)	.	.	0.999949366401994	0.894
18	6947297	T	G	18	6947298	y	y	splicing	LAMA1(NM_005559:exon62:c.8711-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon62:c.8711-2A>C)	.	.	0.999949366401994	0.894
18	6947298	G	A	18	6947299	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0166671649342121	0.062
18	6947298	G	C	18	6947299	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999857456872455	0.958
18	6947298	G	T	18	6947299	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.987798450385209	0.822
18	6947299	T	A	18	6947300	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.00280792337816E-4	0.0
18	6947299	T	C	18	6947300	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.86702825504718E-4	0.0
18	6947299	T	G	18	6947300	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.04459549865128E-4	0.0
18	6947300	A	C	18	6947301	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.539713892420427	0.476
18	6947300	A	G	18	6947301	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0336070088092423	0.204
18	6947300	A	T	18	6947301	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.563694922519078	0.494
18	6947301	A	C	18	6947302	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.938237291571525	0.62
18	6947301	A	G	18	6947302	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00263755081189084	0.038
18	6947301	A	T	18	6947302	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.847339385209724	0.566
18	6947302	C	A	18	6947303	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.58645906776164E-5	0.0
18	6947302	C	G	18	6947303	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.55908716824608E-5	0.0
18	6947302	C	T	18	6947303	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.19134763012194E-4	0.002
18	6947303	A	C	18	6947304	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.347730173284955	0.484
18	6947303	A	G	18	6947304	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00132402823495005	0.12
18	6947303	A	T	18	6947304	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99992271088033	0.992
18	6947304	C	A	18	6947305	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.9773158313984E-4	0.02
18	6947304	C	G	18	6947305	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.41016194528348E-4	0.008
18	6947304	C	T	18	6947305	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00180092513195631	0.026
18	6947305	A	C	18	6947306	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.879984859185803	0.6
18	6947305	A	G	18	6947306	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00165702482836198	0.058
18	6947305	A	T	18	6947306	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999902538992506	0.968
18	6947306	C	A	18	6947307	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.59139786028332E-5	0.034
18	6947306	C	G	18	6947307	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.92983577332507E-5	0.0
18	6947306	C	T	18	6947307	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.81321263764488E-4	0.03
18	6947307	A	C	18	6947308	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.101280463043647	0.324
18	6947307	A	G	18	6947308	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00243279222284599	0.04
18	6947307	A	T	18	6947308	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999448413995895	0.962
18	6948394	A	C	18	6948395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.46062441048989E-4	0.036
18	6948394	A	G	18	6948395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.08503357801397E-4	0.0
18	6948394	A	T	18	6948395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.86395244659622E-4	0.006
18	6948395	C	A	18	6948396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.79286228498018E-4	0.002
18	6948395	C	G	18	6948396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07256548728156E-5	0.002
18	6948395	C	T	18	6948396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07256548728156E-5	0.002
18	6948396	A	C	18	6948397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.15841623880417	0.476
18	6948396	A	G	18	6948397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.556920423163459	0.438
18	6948396	A	T	18	6948397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.587578896918529	0.438
18	6948397	C	A	18	6948398	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999992558816636	0.978
18	6948397	C	G	18	6948398	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999993848640733	0.976
18	6948397	C	T	18	6948398	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999987149579364	0.994
18	6948398	A	C	18	6948399	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.36139959724378E-4	0.058
18	6948398	A	G	18	6948399	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.07177883436607E-4	0.014
18	6948398	A	T	18	6948399	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.05190538670611E-4	0.18
18	6948399	T	A	18	6948400	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99613991900549	0.69
18	6948399	T	C	18	6948400	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.805317748466515	0.488
18	6948399	T	G	18	6948400	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999541397368592	0.676
18	6948400	A	C	18	6948401	y	y	splicing	LAMA1(NM_005559:exon61:c.8710+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8710+2T>G)	.	.	0.999971317418422	0.892
18	6948400	A	G	18	6948401	y	y	splicing	LAMA1(NM_005559:exon61:c.8710+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8710+2T>C)	.	.	0.967576868761202	0.558
18	6948400	A	T	18	6948401	y	y	splicing	LAMA1(NM_005559:exon61:c.8710+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8710+2T>A)	.	.	0.999951957019574	0.87
18	6948401	C	A	18	6948402	y	y	splicing	LAMA1(NM_005559:exon61:c.8710+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8710+1G>T)	.	.	0.999958812450268	0.924
18	6948401	C	G	18	6948402	y	y	splicing	LAMA1(NM_005559:exon61:c.8710+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8710+1G>C)	.	.	0.99996748057446	0.906
18	6948401	C	T	18	6948402	y	y	splicing	LAMA1(NM_005559:exon61:c.8710+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8710+1G>A)	.	.	0.999960200702261	0.934
18	6948402	C	A	18	6948403	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.G8710T:p.V2904F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.G8710T:p.V2904F;	0.999954720891998	0.986
18	6948402	C	G	18	6948403	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.G8710C:p.V2904L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.G8710C:p.V2904L;	0.999965504555114	0.914
18	6948402	C	T	18	6948403	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.G8710A:p.V2904I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.G8710A:p.V2904I;	0.99969717659307	0.984
18	6948403	A	C	18	6948404	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon60:c.T8709G:p.L2903L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8709G:p.L2903L;	3.01035928823078E-5	0.018
18	6948403	A	G	18	6948404	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon60:c.T8709C:p.L2903L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8709C:p.L2903L;	3.42191007741206E-5	0.01
18	6948403	A	T	18	6948404	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon60:c.T8709A:p.L2903L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8709A:p.L2903L;	4.73156011138878E-5	0.072
18	6948404	A	C	18	6948405	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.T8708G:p.L2903R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8708G:p.L2903R;	0.289918299191727	0.372
18	6948404	A	G	18	6948405	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.T8708C:p.L2903P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8708C:p.L2903P;	0.0314433638838231	0.278
18	6948404	A	T	18	6948405	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.T8708A:p.L2903H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8708A:p.L2903H;	0.214527841889711	0.416
18	6948554	A	C	18	6948555	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.T8558G:p.I2853S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8558G:p.I2853S;	0.640748968828789	0.314
18	6948554	A	G	18	6948555	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.T8558C:p.I2853T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8558C:p.I2853T;	0.62376642364072	0.346
18	6948554	A	T	18	6948555	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.T8558A:p.I2853N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.T8558A:p.I2853N;	0.825553783282654	0.452
18	6948555	T	A	18	6948556	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.A8557T:p.I2853F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.A8557T:p.I2853F;	8.2676388276472E-4	0.278
18	6948555	T	C	18	6948556	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.A8557G:p.I2853V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.A8557G:p.I2853V;	5.16533649699763E-5	0.004
18	6948555	T	G	18	6948556	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.A8557C:p.I2853L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon60:c.A8557C:p.I2853L;	5.60109285490844E-4	0.312
18	6948556	C	A	18	6948557	y	y	splicing	LAMA1(NM_005559:exon61:c.8557-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8557-1G>T)	.	.	0.999986675681007	0.942
18	6948556	C	G	18	6948557	y	y	splicing	LAMA1(NM_005559:exon61:c.8557-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8557-1G>C)	.	.	0.999986675681007	0.942
18	6948556	C	T	18	6948557	y	y	splicing	LAMA1(NM_005559:exon61:c.8557-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8557-1G>A)	.	.	0.999986675681007	0.942
18	6948557	T	A	18	6948558	y	y	splicing	LAMA1(NM_005559:exon61:c.8557-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8557-2A>T)	.	.	0.999988247793601	0.938
18	6948557	T	C	18	6948558	y	y	splicing	LAMA1(NM_005559:exon61:c.8557-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8557-2A>G)	.	.	0.999988247793601	0.938
18	6948557	T	G	18	6948558	y	y	splicing	LAMA1(NM_005559:exon61:c.8557-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon61:c.8557-2A>C)	.	.	0.999988247793601	0.938
18	6948558	A	C	18	6948559	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.938926400845468	0.684
18	6948558	A	G	18	6948559	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.93300490879836E-4	0.178
18	6948558	A	T	18	6948559	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.406205396866936	0.486
18	6948559	A	C	18	6948560	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.06022672467423E-4	0.006
18	6948559	A	G	18	6948560	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.34732710874086E-4	0.006
18	6948559	A	T	18	6948560	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00427806492800733	0.02
18	6948560	G	A	18	6948561	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.75048569408634E-4	0.002
18	6948560	G	C	18	6948561	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00120459372369016	0.196
18	6948560	G	T	18	6948561	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0012848270178905	0.17
18	6948561	C	A	18	6948562	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.74565919541341E-4	0.018
18	6948561	C	G	18	6948562	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.53312138582059E-4	0.154
18	6948561	C	T	18	6948562	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.41187646086986E-4	0.002
18	6948562	C	A	18	6948563	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.58114082086408E-4	0.036
18	6948562	C	G	18	6948563	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.44429825288003E-4	0.016
18	6948562	C	T	18	6948563	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999143243408844	0.982
18	6948563	A	C	18	6948564	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0113557064687538	0.192
18	6948563	A	G	18	6948564	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.25384535390945E-4	0.002
18	6948563	A	T	18	6948564	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999918509023283	0.994
18	6948564	A	C	18	6948565	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.478923042434529	0.542
18	6948564	A	G	18	6948565	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.77814326625257E-4	0.092
18	6948564	A	T	18	6948565	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.531024101468308	0.564
18	6948565	A	C	18	6948566	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999982776916732	0.884
18	6948565	A	G	18	6948566	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.39892896759641E-4	0.298
18	6948565	A	T	18	6948566	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996190031406815	0.638
18	6948566	T	A	18	6948567	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.13364642857795E-4	0.144
18	6948566	T	C	18	6948567	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.18816265478131E-4	0.046
18	6948566	T	G	18	6948567	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.74038968891932E-4	0.04
18	6948567	G	A	18	6948568	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0287894962659108	0.24
18	6948567	G	C	18	6948568	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0530510159148399	0.118
18	6948567	G	T	18	6948568	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0713024410339495	0.176
18	6949092	C	A	18	6949093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.73271105967118E-5	0.0
18	6949092	C	G	18	6949093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.83029357412045E-5	0.002
18	6949092	C	T	18	6949093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.06562926072321E-4	0.002
18	6949093	T	A	18	6949094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.43095525480561E-4	0.084
18	6949093	T	C	18	6949094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.50359691546424E-4	0.002
18	6949093	T	G	18	6949094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.52314028971092E-5	0.006
18	6949094	G	A	18	6949095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.18660361956852E-5	0.02
18	6949094	G	C	18	6949095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07364168723652E-5	0.028
18	6949094	G	T	18	6949095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.25322547701653E-4	0.034
18	6949095	C	A	18	6949096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999973756785616	0.97
18	6949095	C	G	18	6949096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999553086034691	0.748
18	6949095	C	T	18	6949096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999972228227527	0.978
18	6949096	T	A	18	6949097	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.977548028730188	0.828
18	6949096	T	C	18	6949097	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.978081321742636	0.844
18	6949096	T	G	18	6949097	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.888095153865322	0.748
18	6949097	T	A	18	6949098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998889233175044	0.898
18	6949097	T	C	18	6949098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00227238752996513	0.14
18	6949097	T	G	18	6949098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998725938339338	0.886
18	6949098	A	C	18	6949099	y	y	splicing	LAMA1(NM_005559:exon60:c.8556+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8556+2T>G)	.	.	0.99994568797423	0.938
18	6949098	A	G	18	6949099	y	y	splicing	LAMA1(NM_005559:exon60:c.8556+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8556+2T>C)	.	.	0.949400375102413	0.638
18	6949098	A	T	18	6949099	y	y	splicing	LAMA1(NM_005559:exon60:c.8556+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8556+2T>A)	.	.	0.99994568797423	0.928
18	6949099	C	A	18	6949100	y	y	splicing	LAMA1(NM_005559:exon60:c.8556+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8556+1G>T)	.	.	0.999986675681007	0.926
18	6949099	C	G	18	6949100	y	y	splicing	LAMA1(NM_005559:exon60:c.8556+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8556+1G>C)	.	.	0.999986675681007	0.926
18	6949099	C	T	18	6949100	y	y	splicing	LAMA1(NM_005559:exon60:c.8556+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8556+1G>A)	.	.	0.999986675681007	0.926
18	6949100	A	C	18	6949101	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.T8556G:p.N2852K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.T8556G:p.N2852K;	7.43996821476691E-4	0.144
18	6949100	A	G	18	6949101	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon59:c.T8556C:p.N2852N;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.T8556C:p.N2852N;	2.25102930468822E-4	0.038
18	6949100	A	T	18	6949101	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.T8556A:p.N2852K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.T8556A:p.N2852K;	7.73876559673856E-5	0.006
18	6949101	T	A	18	6949102	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.A8555T:p.N2852I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.A8555T:p.N2852I;	0.99196637068835	0.772
18	6949101	T	C	18	6949102	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.A8555G:p.N2852S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.A8555G:p.N2852S;	0.769818408183035	0.582
18	6949101	T	G	18	6949102	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.A8555C:p.N2852T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.A8555C:p.N2852T;	0.490998400837687	0.624
18	6949102	T	A	18	6949103	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.A8554T:p.N2852Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.A8554T:p.N2852Y;	0.472339907776186	0.606
18	6949102	T	C	18	6949103	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.A8554G:p.N2852D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.A8554G:p.N2852D;	3.47259170186532E-4	0.008
18	6949102	T	G	18	6949103	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.A8554C:p.N2852H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.A8554C:p.N2852H;	7.15030364509337E-4	0.052
18	6949257	A	C	18	6949258	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.T8399G:p.V2800G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.T8399G:p.V2800G;	0.198950779628122	0.322
18	6949257	A	G	18	6949258	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.T8399C:p.V2800A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.T8399C:p.V2800A;	0.10873976628752	0.348
18	6949257	A	T	18	6949258	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.T8399A:p.V2800D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.T8399A:p.V2800D;	0.0827526412582728	0.39
18	6949258	C	A	18	6949259	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.G8398T:p.V2800F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.G8398T:p.V2800F;	0.999685359729549	0.958
18	6949258	C	G	18	6949259	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.G8398C:p.V2800L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.G8398C:p.V2800L;	0.998932242014048	0.884
18	6949258	C	T	18	6949259	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon59:c.G8398A:p.V2800I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon59:c.G8398A:p.V2800I;	0.0764428864255827	0.44
18	6949259	C	A	18	6949260	y	y	splicing	LAMA1(NM_005559:exon60:c.8398-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8398-1G>T)	.	.	0.99996748057446	0.904
18	6949259	C	G	18	6949260	y	y	splicing	LAMA1(NM_005559:exon60:c.8398-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8398-1G>C)	.	.	0.999968430223941	0.84
18	6949259	C	T	18	6949260	y	y	splicing	LAMA1(NM_005559:exon60:c.8398-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8398-1G>A)	.	.	0.99996748057446	0.908
18	6949260	T	A	18	6949261	y	y	splicing	LAMA1(NM_005559:exon60:c.8398-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8398-2A>T)	.	.	0.999972155025474	0.85
18	6949260	T	C	18	6949261	y	y	splicing	LAMA1(NM_005559:exon60:c.8398-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8398-2A>G)	.	.	0.999969255906173	0.862
18	6949260	T	G	18	6949261	y	y	splicing	LAMA1(NM_005559:exon60:c.8398-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon60:c.8398-2A>C)	.	.	0.999969255906173	0.862
18	6949261	A	C	18	6949262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.961277950885129	0.66
18	6949261	A	G	18	6949262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.74554550797403E-5	0.002
18	6949261	A	T	18	6949262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00831972804466986	0.15
18	6949262	C	A	18	6949263	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.69327116807011E-5	0.0
18	6949262	C	G	18	6949263	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.13985961672393E-5	0.0
18	6949262	C	T	18	6949263	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.4887794681632E-5	0.0
18	6949263	A	C	18	6949264	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.279056373203532	0.542
18	6949263	A	G	18	6949264	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.74119616996887E-4	0.046
18	6949263	A	T	18	6949264	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999327453111466	0.916
18	6949264	G	A	18	6949265	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.77840740971287E-5	0.006
18	6949264	G	C	18	6949265	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.75430518215417E-4	0.066
18	6949264	G	T	18	6949265	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.76910776142952E-4	0.072
18	6949265	C	A	18	6949266	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.05059111188853E-5	0.002
18	6949265	C	G	18	6949266	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.79838373209624E-5	0.004
18	6949265	C	T	18	6949266	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.86952580632741E-5	0.0
18	6949266	A	C	18	6949267	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.8881506666441E-4	0.084
18	6949266	A	G	18	6949267	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.07215676323826E-6	0.002
18	6949266	A	T	18	6949267	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.968726307912672	0.888
18	6949267	A	C	18	6949268	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00464301477215083	0.148
18	6949267	A	G	18	6949268	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.33784609319487E-5	0.006
18	6949267	A	T	18	6949268	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00619742911439936	0.136
18	6949268	A	C	18	6949269	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00159221757610928	0.112
18	6949268	A	G	18	6949269	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.89684641826645E-5	0.0
18	6949268	A	T	18	6949269	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00248445066649355	0.164
18	6949269	G	A	18	6949270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.04799102519692E-5	0.0
18	6949269	G	C	18	6949270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.946448446138448	0.946
18	6949269	G	T	18	6949270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.93199740656607E-5	0.022
18	6949270	T	A	18	6949271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.72877218300527E-5	0.0
18	6949270	T	C	18	6949271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.67227996247493E-5	0.018
18	6949270	T	G	18	6949271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.00875353483525E-5	0.0
18	6950773	G	A	18	6950774	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.92579418961456E-4	0.026
18	6950773	G	C	18	6950774	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.58159841989217E-5	0.014
18	6950773	G	T	18	6950774	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.98402435734429E-4	0.034
18	6950774	A	C	18	6950775	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.25951982785882E-5	0.0
18	6950774	A	G	18	6950775	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.25951982785882E-5	0.0
18	6950774	A	T	18	6950775	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.9455153944705E-5	0.0
18	6950775	T	A	18	6950776	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.75693776376732E-5	0.018
18	6950775	T	C	18	6950776	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.54383358341642E-5	0.0
18	6950775	T	G	18	6950776	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.39047095572864E-5	0.036
18	6950776	C	A	18	6950777	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999974800995259	0.92
18	6950776	C	G	18	6950777	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999974800995259	0.88
18	6950776	C	T	18	6950777	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999934886880052	0.926
18	6950777	G	A	18	6950778	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.10851973665561E-5	0.028
18	6950777	G	C	18	6950778	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.54618633514669E-5	0.028
18	6950777	G	T	18	6950778	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.79383105825401E-5	0.016
18	6950778	T	A	18	6950779	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994770989587703	0.88
18	6950778	T	C	18	6950779	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0857634338446283	0.294
18	6950778	T	G	18	6950779	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999668546473532	0.894
18	6950779	A	C	18	6950780	y	y	splicing	LAMA1(NM_005559:exon59:c.8397+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8397+2T>G)	.	.	0.999971317418422	0.894
18	6950779	A	G	18	6950780	y	y	splicing	LAMA1(NM_005559:exon59:c.8397+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8397+2T>C)	.	.	0.999722375968564	0.822
18	6950779	A	T	18	6950780	y	y	splicing	LAMA1(NM_005559:exon59:c.8397+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8397+2T>A)	.	.	0.999963671976247	0.92
18	6950780	C	A	18	6950781	y	y	splicing	LAMA1(NM_005559:exon59:c.8397+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8397+1G>T)	.	.	0.999938990645747	0.946
18	6950780	C	G	18	6950781	y	y	splicing	LAMA1(NM_005559:exon59:c.8397+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8397+1G>C)	.	.	0.999938990645747	0.946
18	6950780	C	T	18	6950781	y	y	splicing	LAMA1(NM_005559:exon59:c.8397+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8397+1G>A)	.	.	0.999938422912956	0.946
18	6950781	C	A	18	6950782	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon58:c.G8397T:p.T2799T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.G8397T:p.T2799T;	0.999958888563463	0.962
18	6950781	C	G	18	6950782	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon58:c.G8397C:p.T2799T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.G8397C:p.T2799T;	0.999925828029945	0.928
18	6950781	C	T	18	6950782	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon58:c.G8397A:p.T2799T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.G8397A:p.T2799T;	0.999887847458686	0.964
18	6950782	G	A	18	6950783	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.C8396T:p.T2799M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.C8396T:p.T2799M;	0.0028010731463903	0.022
18	6950782	G	C	18	6950783	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.C8396G:p.T2799R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.C8396G:p.T2799R;	0.00166681191077479	0.02
18	6950782	G	T	18	6950783	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.C8396A:p.T2799K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.C8396A:p.T2799K;	4.72949187655481E-5	0.052
18	6950783	T	A	18	6950784	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.A8395T:p.T2799S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.A8395T:p.T2799S;	0.0809753046640463	0.342
18	6950783	T	C	18	6950784	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.A8395G:p.T2799A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.A8395G:p.T2799A;	0.00626842816032222	0.168
18	6950783	T	G	18	6950784	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.A8395C:p.T2799P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.A8395C:p.T2799P;	0.0123699348693135	0.09
18	6950969	G	A	18	6950970	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.C8209T:p.L2737F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.C8209T:p.L2737F;	0.00299199603163359	0.024
18	6950969	G	C	18	6950970	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.C8209G:p.L2737V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.C8209G:p.L2737V;	0.00579641168287057	0.052
18	6950969	G	T	18	6950970	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.C8209A:p.L2737I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.C8209A:p.L2737I;	0.600060316004939	0.476
18	6950970	C	A	18	6950971	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.G8208T:p.K2736N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.G8208T:p.K2736N;	0.939331474288308	0.586
18	6950970	C	G	18	6950971	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon58:c.G8208C:p.K2736N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.G8208C:p.K2736N;	0.904705514911505	0.536
18	6950970	C	T	18	6950971	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon58:c.G8208A:p.K2736K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon58:c.G8208A:p.K2736K;	0.073230737704048	0.474
18	6950971	C	A	18	6950972	y	y	splicing	LAMA1(NM_005559:exon59:c.8208-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8208-1G>T)	.	.	0.99996748057446	0.908
18	6950971	C	G	18	6950972	y	y	splicing	LAMA1(NM_005559:exon59:c.8208-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8208-1G>C)	.	.	0.99996748057446	0.906
18	6950971	C	T	18	6950972	y	y	splicing	LAMA1(NM_005559:exon59:c.8208-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8208-1G>A)	.	.	0.999945530492988	0.908
18	6950972	T	A	18	6950973	y	y	splicing	LAMA1(NM_005559:exon59:c.8208-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8208-2A>T)	.	.	0.999971317418422	0.884
18	6950972	T	C	18	6950973	y	y	splicing	LAMA1(NM_005559:exon59:c.8208-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8208-2A>G)	.	.	0.999972155025474	0.87
18	6950972	T	G	18	6950973	y	y	splicing	LAMA1(NM_005559:exon59:c.8208-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon59:c.8208-2A>C)	.	.	0.999972155025474	0.868
18	6950973	G	A	18	6950974	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.53490769049003E-4	0.11
18	6950973	G	C	18	6950974	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999360648137583	0.932
18	6950973	G	T	18	6950974	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.881016497069854	0.598
18	6950974	G	A	18	6950975	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.56918450680375E-5	0.002
18	6950974	G	C	18	6950975	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.17200805900532E-5	0.0
18	6950974	G	T	18	6950975	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.17200805900532E-5	0.0
18	6950975	G	A	18	6950976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.77472731453723E-5	0.0
18	6950975	G	C	18	6950976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00232017007112682	0.11
18	6950975	G	T	18	6950976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.79896157343367E-4	0.056
18	6950976	G	A	18	6950977	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10829331106188E-4	0.052
18	6950976	G	C	18	6950977	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00480975046131948	0.166
18	6950976	G	T	18	6950977	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00427673771440709	0.16
18	6950977	A	C	18	6950978	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.26718139827621E-4	0.022
18	6950977	A	G	18	6950978	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.23606343461219E-5	0.0
18	6950977	A	T	18	6950978	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.68282888580555E-4	0.036
18	6950978	A	C	18	6950979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.37188703096107E-4	0.016
18	6950978	A	G	18	6950979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.84617800606693E-5	0.0
18	6950978	A	T	18	6950979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.37364571492327E-4	0.062
18	6950979	A	C	18	6950980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.49606638698987E-4	0.042
18	6950979	A	G	18	6950980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.25436974010234E-4	0.002
18	6950979	A	T	18	6950980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.06882370335766E-4	0.086
18	6950980	A	C	18	6950981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00195226184942314	0.116
18	6950980	A	G	18	6950981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.46800197371652E-5	0.002
18	6950980	A	T	18	6950981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0023039944157075	0.138
18	6950981	C	A	18	6950982	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.44895844519938E-5	0.0
18	6950981	C	G	18	6950982	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.98664471577337E-6	0.0
18	6950981	C	T	18	6950982	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.8460566977461E-5	0.0
18	6950982	A	C	18	6950983	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.69352367643968E-4	0.018
18	6950982	A	G	18	6950983	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.56252367297217E-5	0.0
18	6950982	A	T	18	6950983	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996934358807054	0.878
18	6955344	A	C	18	6955345	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	1.13496403806569E-4	0.024
18	6955344	A	G	18	6955345	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	3.46025841607127E-5	0.0
18	6955344	A	T	18	6955345	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.00100805502196466	0.144
18	6955345	T	A	18	6955346	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	1.08394601335123E-4	0.004
18	6955345	T	C	18	6955346	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	4.30790773083982E-5	0.0
18	6955345	T	G	18	6955346	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	6.05307942251884E-5	0.0
18	6955346	A	C	18	6955347	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.914190199179273	0.642
18	6955346	A	G	18	6955347	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.699367818332802	0.518
18	6955346	A	T	18	6955347	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.726305946594876	0.554
18	6955347	C	A	18	6955348	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.999976499684425	0.994
18	6955347	C	G	18	6955348	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.999976499684425	0.984
18	6955347	C	T	18	6955348	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.999979358856045	1.0
18	6955348	C	A	18	6955349	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	9.23775461017778E-5	0.03
18	6955348	C	G	18	6955349	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	9.23775461017778E-5	0.072
18	6955348	C	T	18	6955349	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	1.84520904580494E-4	0.078
18	6955349	T	A	18	6955350	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.995517806609297	0.658
18	6955349	T	C	18	6955350	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.203896862469093	0.322
18	6955349	T	G	18	6955350	y	y	intronic	LAMA1	.	.	ncRNA_intronic	ENSG00000265069	.	.	0.997799852175807	0.678
18	6955350	A	C	18	6955351	y	y	splicing	LAMA1(NM_005559:exon58:c.8207+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon58:c.8207+2T>G)	.	.	0.999975839290682	0.862
18	6955350	A	G	18	6955351	y	y	splicing	LAMA1(NM_005559:exon58:c.8207+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon58:c.8207+2T>C)	.	.	0.94380414457574	0.57
18	6955350	A	T	18	6955351	y	y	splicing	LAMA1(NM_005559:exon58:c.8207+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon58:c.8207+2T>A)	.	.	0.999975839290682	0.878
18	6955351	C	A	18	6955352	y	y	splicing	LAMA1(NM_005559:exon58:c.8207+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon58:c.8207+1G>T)	.	.	0.999975190411474	0.898
18	6955351	C	G	18	6955352	y	y	splicing	LAMA1(NM_005559:exon58:c.8207+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon58:c.8207+1G>C)	.	.	0.999972607317066	0.89
18	6955351	C	T	18	6955352	y	y	splicing	LAMA1(NM_005559:exon58:c.8207+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon58:c.8207+1G>A)	.	.	0.999975190411474	0.884
18	6955352	T	A	18	6955353	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.A8207T:p.K2736M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.A8207T:p.K2736M;	5.93278405816643E-4	0.118
18	6955352	T	C	18	6955353	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.A8207G:p.K2736R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.A8207G:p.K2736R;	3.85594906458355E-5	0.014
18	6955352	T	G	18	6955353	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.A8207C:p.K2736T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.A8207C:p.K2736T;	2.26834900058617E-5	0.074
18	6955353	T	A	18	6955354	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon57:c.A8206T:p.K2736X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon57:c.A8206T:p.K2736X;	0.999886915091639	0.984
18	6955353	T	C	18	6955354	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.A8206G:p.K2736E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.A8206G:p.K2736E;	0.992920662533286	0.796
18	6955353	T	G	18	6955354	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.A8206C:p.K2736Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.A8206C:p.K2736Q;	0.972497283373499	0.78
18	6955354	C	A	18	6955355	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.G8205T:p.K2735N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.G8205T:p.K2735N;	0.00164698710668331	0.32
18	6955354	C	G	18	6955355	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.G8205C:p.K2735N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.G8205C:p.K2735N;	2.3563578142808E-4	0.026
18	6955354	C	T	18	6955355	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon57:c.G8205A:p.K2735K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.G8205A:p.K2735K;	5.43912563859529E-4	0.02
18	6955463	T	A	18	6955464	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.A8096T:p.E2699V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.A8096T:p.E2699V;	3.33334737353568E-5	0.022
18	6955463	T	C	18	6955464	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.A8096G:p.E2699G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.A8096G:p.E2699G;	1.03862356786138E-4	0.102
18	6955463	T	G	18	6955464	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.A8096C:p.E2699A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.A8096C:p.E2699A;	8.31481174550152E-4	0.038
18	6955464	C	A	18	6955465	y	n	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon57:c.G8095T:p.E2699X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon57:c.G8095T:p.E2699X;	0.990735871982913	0.618
18	6955464	C	G	18	6955465	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.G8095C:p.E2699Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.G8095C:p.E2699Q;	0.00381554161898436	0.19
18	6955464	C	T	18	6955465	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon57:c.G8095A:p.E2699K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon57:c.G8095A:p.E2699K;	3.49859570724159E-4	0.1
18	6955465	C	A	18	6955466	y	n	splicing	LAMA1(NM_005559:exon58:c.8095-1G>T)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999958003653399	0.864
18	6955465	C	G	18	6955466	y	n	splicing	LAMA1(NM_005559:exon58:c.8095-1G>C)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999958003653399	0.844
18	6955465	C	T	18	6955466	y	n	splicing	LAMA1(NM_005559:exon58:c.8095-1G>A)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999965143305126	0.866
18	6955466	T	A	18	6955467	y	n	splicing	LAMA1(NM_005559:exon58:c.8095-2A>T)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999969255906173	0.844
18	6955466	T	C	18	6955467	y	n	splicing	LAMA1(NM_005559:exon58:c.8095-2A>G)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999962958601995	0.822
18	6955466	T	G	18	6955467	y	n	splicing	LAMA1(NM_005559:exon58:c.8095-2A>C)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999962958601995	0.83
18	6955467	G	A	18	6955468	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.0625823652870185	0.214
18	6955467	G	C	18	6955468	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999109539973297	0.97
18	6955467	G	T	18	6955468	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.927398796689003	0.52
18	6955468	T	A	18	6955469	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	7.46303074634159E-5	0.0
18	6955468	T	C	18	6955469	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	7.41635653878773E-5	0.0
18	6955468	T	G	18	6955469	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	8.46950500705005E-5	0.002
18	6955469	A	C	18	6955470	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.38467095226572	0.408
18	6955469	A	G	18	6955470	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	5.78204964246006E-4	0.026
18	6955469	A	T	18	6955470	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.639520685868891	0.424
18	6955470	A	C	18	6955471	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.79980257263413	0.496
18	6955470	A	G	18	6955471	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	4.69929485024807E-4	0.01
18	6955470	A	T	18	6955471	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.745382455936312	0.464
18	6955471	G	A	18	6955472	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	2.48819611223068E-5	0.0
18	6955471	G	C	18	6955472	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	4.24981021164085E-4	0.042
18	6955471	G	T	18	6955472	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	5.42959032671808E-4	0.04
18	6955472	A	C	18	6955473	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.00202603003032847	0.11
18	6955472	A	G	18	6955473	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.1683678591024E-4	0.008
18	6955472	A	T	18	6955473	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.0124186953807941	0.158
18	6955473	G	A	18	6955474	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	8.15755666325062E-5	0.0
18	6955473	G	C	18	6955474	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	2.04047107531722E-4	0.028
18	6955473	G	T	18	6955474	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.00103093083383466	0.07
18	6955474	A	C	18	6955475	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.497865784920664	0.464
18	6955474	A	G	18	6955475	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	5.70423504783029E-4	0.008
18	6955474	A	T	18	6955475	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.549265417543358	0.478
18	6955475	C	A	18	6955476	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	4.31938425131751E-5	0.002
18	6955475	C	G	18	6955476	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	7.44165044955461E-5	0.008
18	6955475	C	T	18	6955476	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.4077818255368E-4	0.008
18	6955476	A	C	18	6955477	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.0102149104770977	0.074
18	6955476	A	G	18	6955477	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	5.21353824482809E-5	0.0
18	6955476	A	T	18	6955477	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.992655734380472	0.87
18	6956627	G	A	18	6956628	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	2.14364884113475E-5	0.008
18	6956627	G	C	18	6956628	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.09105271056891E-5	0.002
18	6956627	G	T	18	6956628	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	2.59010767121376E-5	0.008
18	6956628	C	A	18	6956629	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.59468996777381E-4	0.028
18	6956628	C	G	18	6956629	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.79999869559495E-4	0.046
18	6956628	C	T	18	6956629	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.50391687203897E-4	0.024
18	6956629	T	A	18	6956630	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	2.58125889218363E-5	0.018
18	6956629	T	C	18	6956630	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.00156970111302217	0.1
18	6956629	T	G	18	6956630	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.01568399913054E-4	0.032
18	6956630	C	A	18	6956631	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999694542129257	0.928
18	6956630	C	G	18	6956631	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999694542129257	0.936
18	6956630	C	T	18	6956631	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999883177684038	0.942
18	6956631	C	A	18	6956632	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.29327638961123E-4	0.082
18	6956631	C	G	18	6956632	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	2.39592688643347E-4	0.284
18	6956631	C	T	18	6956632	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	8.35222956684506E-5	0.022
18	6956632	T	A	18	6956633	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.991695914359581	0.79
18	6956632	T	C	18	6956633	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.250964666275612	0.386
18	6956632	T	G	18	6956633	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.984221880038862	0.724
18	6956633	A	C	18	6956634	y	n	splicing	LAMA1(NM_005559:exon57:c.8094+2T>G)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999928257623535	0.92
18	6956633	A	G	18	6956634	y	n	splicing	LAMA1(NM_005559:exon57:c.8094+2T>C)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.997665519595419	0.792
18	6956633	A	T	18	6956634	y	n	splicing	LAMA1(NM_005559:exon57:c.8094+2T>A)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999930675673579	0.924
18	6956634	C	A	18	6956635	y	n	splicing	LAMA1(NM_005559:exon57:c.8094+1G>T)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999827113504493	0.906
18	6956634	C	G	18	6956635	y	n	splicing	LAMA1(NM_005559:exon57:c.8094+1G>C)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999821083826131	0.898
18	6956634	C	T	18	6956635	y	n	splicing	LAMA1(NM_005559:exon57:c.8094+1G>A)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999827113504493	0.91
18	6956635	T	A	18	6956636	y	n	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon56:c.A8094T:p.P2698P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.A8094T:p.P2698P;	0.00765416012338147	0.06
18	6956635	T	C	18	6956636	y	n	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon56:c.A8094G:p.P2698P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.A8094G:p.P2698P;	7.28583983253854E-5	0.018
18	6956635	T	G	18	6956636	y	n	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon56:c.A8094C:p.P2698P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.A8094C:p.P2698P;	4.45373676660449E-4	0.036
18	6956636	G	A	18	6956637	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C8093T:p.P2698L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C8093T:p.P2698L;	0.15406531165442	0.204
18	6956636	G	C	18	6956637	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C8093G:p.P2698R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C8093G:p.P2698R;	0.0154161101204422	0.228
18	6956636	G	T	18	6956637	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C8093A:p.P2698Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C8093A:p.P2698Q;	0.0107648647899018	0.292
18	6956637	G	A	18	6956638	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C8092T:p.P2698S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C8092T:p.P2698S;	0.985040126398721	0.7
18	6956637	G	C	18	6956638	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C8092G:p.P2698A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C8092G:p.P2698A;	0.659293698418278	0.344
18	6956637	G	T	18	6956638	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C8092A:p.P2698T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C8092A:p.P2698T;	5.84712878612347E-4	0.054
18	6956763	G	A	18	6956764	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C7966T:p.L2656F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C7966T:p.L2656F;	0.965748902942959	0.792
18	6956763	G	C	18	6956764	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C7966G:p.L2656V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C7966G:p.L2656V;	0.963528176785361	0.67
18	6956763	G	T	18	6956764	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.C7966A:p.L2656I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.C7966A:p.L2656I;	0.98148587647496	0.744
18	6956764	T	A	18	6956765	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.A7965T:p.E2655D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.A7965T:p.E2655D;	0.00243384567412012	0.056
18	6956764	T	C	18	6956765	y	n	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon56:c.A7965G:p.E2655E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.A7965G:p.E2655E;	8.9070579686128E-5	0.0
18	6956764	T	G	18	6956765	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon56:c.A7965C:p.E2655D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon56:c.A7965C:p.E2655D;	0.0051690263853566	0.084
18	6956765	C	A	18	6956766	y	n	splicing	LAMA1(NM_005559:exon57:c.7965-1G>T)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999981760802075	0.938
18	6956765	C	G	18	6956766	y	n	splicing	LAMA1(NM_005559:exon57:c.7965-1G>C)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999981760802075	0.938
18	6956765	C	T	18	6956766	y	n	splicing	LAMA1(NM_005559:exon57:c.7965-1G>A)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999981760802075	0.938
18	6956766	T	A	18	6956767	y	n	splicing	LAMA1(NM_005559:exon57:c.7965-2A>T)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999986903042585	0.928
18	6956766	T	C	18	6956767	y	n	splicing	LAMA1(NM_005559:exon57:c.7965-2A>G)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.999966203349492	0.926
18	6956766	T	G	18	6956767	y	n	splicing	LAMA1(NM_005559:exon57:c.7965-2A>C)	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.99998174402319	0.926
18	6956767	A	C	18	6956768	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.985877578372424	0.694
18	6956767	A	G	18	6956768	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	5.69295285653749E-5	0.022
18	6956767	A	T	18	6956768	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.138263344503668	0.388
18	6956768	G	A	18	6956769	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.86030339234139E-4	0.0
18	6956768	G	C	18	6956769	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	9.96435221247259E-5	0.0
18	6956768	G	T	18	6956769	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	8.43534382440858E-5	0.0
18	6956769	G	A	18	6956770	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.72127200019688E-5	0.0
18	6956769	G	C	18	6956770	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.991761344316271	0.928
18	6956769	G	T	18	6956770	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.89187730534639E-4	0.006
18	6956770	T	A	18	6956771	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.89312233284152E-5	0.0
18	6956770	T	C	18	6956771	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	3.28719243328449E-5	0.0
18	6956770	T	G	18	6956771	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	2.36224114498717E-5	0.008
18	6956771	A	C	18	6956772	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.0204881976620138	0.286
18	6956771	A	G	18	6956772	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	2.10731532640254E-4	0.006
18	6956771	A	T	18	6956772	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.0505771805360317	0.3
18	6956772	G	A	18	6956773	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	4.56144719152831E-5	0.006
18	6956772	G	C	18	6956773	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	3.03814330903512E-4	0.058
18	6956772	G	T	18	6956773	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.00161894082323455	0.056
18	6956773	A	C	18	6956774	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.0606653597598345	0.424
18	6956773	A	G	18	6956774	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	3.20015951140937E-4	0.002
18	6956773	A	T	18	6956774	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.0891035777105584	0.432
18	6956774	A	C	18	6956775	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.047289168868773	0.484
18	6956774	A	G	18	6956775	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	6.95556236858386E-4	0.05
18	6956774	A	T	18	6956775	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.533025917535443	0.562
18	6956775	A	C	18	6956776	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.127888775927304	0.446
18	6956775	A	G	18	6956776	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.00230691988743756	0.152
18	6956775	A	T	18	6956776	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	0.379911369342592	0.556
18	6956776	C	A	18	6956777	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	3.08567821169959E-5	0.0
18	6956776	C	G	18	6956777	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	3.65443067235098E-5	0.002
18	6956776	C	T	18	6956777	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000265069	.	.	1.10346691161458E-4	0.042
18	6958468	A	C	18	6958469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.83063522924023E-5	0.0
18	6958468	A	G	18	6958469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.51116515816085E-5	0.0
18	6958468	A	T	18	6958469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.83063522924023E-5	0.0
18	6958469	C	A	18	6958470	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.29742067907464E-5	0.0
18	6958469	C	G	18	6958470	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.18924664478357E-5	0.0
18	6958469	C	T	18	6958470	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.29742067907464E-5	0.0
18	6958470	A	C	18	6958471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994444798123639	0.792
18	6958470	A	G	18	6958471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996440424182784	0.848
18	6958470	A	T	18	6958471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996966498427168	0.718
18	6958471	C	A	18	6958472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999972383821654	0.988
18	6958471	C	G	18	6958472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999980187920248	0.974
18	6958471	C	T	18	6958472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99997903394115	0.992
18	6958472	T	A	18	6958473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992171619059577	0.83
18	6958472	T	C	18	6958473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.973799235187551	0.81
18	6958472	T	G	18	6958473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997021881672976	0.796
18	6958473	T	A	18	6958474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999299788323544	0.854
18	6958473	T	C	18	6958474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0378261429354131	0.264
18	6958473	T	G	18	6958474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999345008398285	0.854
18	6958474	A	C	18	6958475	y	y	splicing	LAMA1(NM_005559:exon56:c.7964+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7964+2T>G)	.	.	0.99994568797423	0.942
18	6958474	A	G	18	6958475	y	y	splicing	LAMA1(NM_005559:exon56:c.7964+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7964+2T>C)	.	.	0.973697021054677	0.712
18	6958474	A	T	18	6958475	y	y	splicing	LAMA1(NM_005559:exon56:c.7964+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7964+2T>A)	.	.	0.99994568797423	0.932
18	6958475	C	A	18	6958476	y	y	splicing	LAMA1(NM_005559:exon56:c.7964+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7964+1G>T)	.	.	0.99995545544995	0.934
18	6958475	C	G	18	6958476	y	y	splicing	LAMA1(NM_005559:exon56:c.7964+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7964+1G>C)	.	.	0.99995545544995	0.944
18	6958475	C	T	18	6958476	y	y	splicing	LAMA1(NM_005559:exon56:c.7964+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7964+1G>A)	.	.	0.99995545544995	0.926
18	6958476	T	A	18	6958477	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.A7964T:p.E2655V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7964T:p.E2655V;	7.24932990142868E-4	0.094
18	6958476	T	C	18	6958477	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.A7964G:p.E2655G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7964G:p.E2655G;	0.00670257428313431	0.128
18	6958476	T	G	18	6958477	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.A7964C:p.E2655A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7964C:p.E2655A;	9.27658358031973E-4	0.074
18	6958477	C	A	18	6958478	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon55:c.G7963T:p.E2655X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon55:c.G7963T:p.E2655X;	0.0444421760476496	0.412
18	6958477	C	G	18	6958478	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.G7963C:p.E2655Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.G7963C:p.E2655Q;	8.72472939502183E-5	0.002
18	6958477	C	T	18	6958478	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.G7963A:p.E2655K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.G7963A:p.E2655K;	1.64055229350442E-4	0.064
18	6958478	C	A	18	6958479	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.G7962T:p.L2654F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.G7962T:p.L2654F;	2.20290382004037E-4	0.022
18	6958478	C	G	18	6958479	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.G7962C:p.L2654F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.G7962C:p.L2654F;	8.8311151783527E-5	0.002
18	6958478	C	T	18	6958479	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon55:c.G7962A:p.L2654L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.G7962A:p.L2654L;	6.31741194967898E-5	0.006
18	6958660	T	A	18	6958661	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.A7780T:p.I2594F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7780T:p.I2594F;	1.93578533595733E-4	0.01
18	6958660	T	C	18	6958661	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.A7780G:p.I2594V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7780G:p.I2594V;	1.42239541669683E-5	0.01
18	6958660	T	G	18	6958661	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.A7780C:p.I2594L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7780C:p.I2594L;	7.89905871992994E-5	0.01
18	6958661	T	A	18	6958662	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.A7779T:p.R2593S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7779T:p.R2593S;	0.00570111806745552	0.136
18	6958661	T	C	18	6958662	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon55:c.A7779G:p.R2593R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7779G:p.R2593R;	1.33001964486566E-4	0.002
18	6958661	T	G	18	6958662	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon55:c.A7779C:p.R2593S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon55:c.A7779C:p.R2593S;	0.00632641537413188	0.078
18	6958662	C	A	18	6958663	y	y	splicing	LAMA1(NM_005559:exon56:c.7779-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7779-1G>T)	.	.	0.999975159880751	0.864
18	6958662	C	G	18	6958663	y	y	splicing	LAMA1(NM_005559:exon56:c.7779-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7779-1G>C)	.	.	0.999969620222061	0.852
18	6958662	C	T	18	6958663	y	y	splicing	LAMA1(NM_005559:exon56:c.7779-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7779-1G>A)	.	.	0.999974785031454	0.864
18	6958663	T	A	18	6958664	y	y	splicing	LAMA1(NM_005559:exon56:c.7779-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7779-2A>T)	.	.	0.999962958601995	0.82
18	6958663	T	C	18	6958664	y	y	splicing	LAMA1(NM_005559:exon56:c.7779-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7779-2A>G)	.	.	0.999962958601995	0.79
18	6958663	T	G	18	6958664	y	y	splicing	LAMA1(NM_005559:exon56:c.7779-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon56:c.7779-2A>C)	.	.	0.999962958601995	0.794
18	6958664	A	C	18	6958665	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.827218029507838	0.678
18	6958664	A	G	18	6958665	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.63432374290459E-5	0.05
18	6958664	A	T	18	6958665	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00618302981872849	0.33
18	6958665	A	C	18	6958666	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.2828587569458E-5	0.042
18	6958665	A	G	18	6958666	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.23190314600491E-5	0.016
18	6958665	A	T	18	6958666	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.47738230472414E-6	0.016
18	6958666	A	C	18	6958667	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.887269264187447	0.55
18	6958666	A	G	18	6958667	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00220524702242996	0.19
18	6958666	A	T	18	6958667	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.828603235301853	0.504
18	6958667	A	C	18	6958668	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.874970824779072	0.53
18	6958667	A	G	18	6958668	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.97212189035572E-4	0.056
18	6958667	A	T	18	6958668	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.700986583249138	0.454
18	6958668	G	A	18	6958669	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.59263380380195E-5	0.002
18	6958668	G	C	18	6958669	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.11884165082852E-4	0.044
18	6958668	G	T	18	6958669	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.13529858520404E-4	0.118
18	6958669	A	C	18	6958670	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0011082233735457	0.152
18	6958669	A	G	18	6958670	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.16752855974871E-5	0.024
18	6958669	A	T	18	6958670	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00140114911777611	0.132
18	6958670	C	A	18	6958671	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.92916081164511E-5	0.078
18	6958670	C	G	18	6958671	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.92916081164511E-5	0.044
18	6958670	C	T	18	6958671	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.5632229182036E-4	0.09
18	6958671	C	A	18	6958672	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.02754041143724E-5	0.024
18	6958671	C	G	18	6958672	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.27078422506355E-5	0.034
18	6958671	C	T	18	6958672	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997993971113717	0.98
18	6958672	A	C	18	6958673	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0585379552189732	0.528
18	6958672	A	G	18	6958673	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.84755621277136E-4	0.212
18	6958672	A	T	18	6958673	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999450921212986	0.922
18	6958673	A	C	18	6958674	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998572438449428	0.922
18	6958673	A	G	18	6958674	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.61093922305742E-4	0.086
18	6958673	A	T	18	6958674	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00192546574276409	0.466
18	6959332	G	A	18	6959333	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.30081017321732E-6	0.0
18	6959332	G	C	18	6959333	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.6265071694861E-5	0.0
18	6959332	G	T	18	6959333	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.49692741721636E-5	0.0
18	6959333	C	A	18	6959334	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.12038373957544E-5	0.0
18	6959333	C	G	18	6959334	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.04900693216345E-6	0.0
18	6959333	C	T	18	6959334	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.04900693216345E-6	0.0
18	6959334	A	C	18	6959335	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00764471802058837	0.278
18	6959334	A	G	18	6959335	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.247252258289218	0.438
18	6959334	A	T	18	6959335	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.216869303100308	0.356
18	6959335	A	C	18	6959336	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.5742677977534E-4	0.01
18	6959335	A	G	18	6959336	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.5703861707328E-5	0.0
18	6959335	A	T	18	6959336	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.32342407733717E-5	0.01
18	6959336	G	A	18	6959337	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00121373159812364	0.036
18	6959336	G	C	18	6959337	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00138289559760924	0.128
18	6959336	G	T	18	6959337	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.69757601789901E-4	0.084
18	6959337	T	A	18	6959338	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999938482177565	0.982
18	6959337	T	C	18	6959338	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996613838638056	0.87
18	6959337	T	G	18	6959338	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999912235077157	0.962
18	6959338	A	C	18	6959339	y	y	splicing	LAMA1(NM_005559:exon55:c.7778+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7778+2T>G)	.	.	0.999946188727699	0.936
18	6959338	A	G	18	6959339	y	y	splicing	LAMA1(NM_005559:exon55:c.7778+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7778+2T>C)	.	.	0.948699398403393	0.66
18	6959338	A	T	18	6959339	y	y	splicing	LAMA1(NM_005559:exon55:c.7778+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7778+2T>A)	.	.	0.99994568797423	0.948
18	6959339	C	A	18	6959340	y	y	splicing	LAMA1(NM_005559:exon55:c.7778+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7778+1G>T)	.	.	0.99995545544995	0.948
18	6959339	C	G	18	6959340	y	y	splicing	LAMA1(NM_005559:exon55:c.7778+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7778+1G>C)	.	.	0.99995545544995	0.948
18	6959339	C	T	18	6959340	y	y	splicing	LAMA1(NM_005559:exon55:c.7778+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7778+1G>A)	.	.	0.99995545544995	0.944
18	6959340	C	A	18	6959341	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.G7778T:p.R2593I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.G7778T:p.R2593I;	0.999995009246243	0.996
18	6959340	C	G	18	6959341	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.G7778C:p.R2593T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.G7778C:p.R2593T;	0.999984939512642	1.0
18	6959340	C	T	18	6959341	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.G7778A:p.R2593K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.G7778A:p.R2593K;	0.999982117903208	1.0
18	6959341	T	A	18	6959342	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon54:c.A7777T:p.R2593X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon54:c.A7777T:p.R2593X;	0.999948570518861	1.0
18	6959341	T	C	18	6959342	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.A7777G:p.R2593G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.A7777G:p.R2593G;	0.990366339095845	0.89
18	6959341	T	G	18	6959342	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon54:c.A7777C:p.R2593R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.A7777C:p.R2593R;	0.98567807574799	0.816
18	6959342	C	A	18	6959343	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon54:c.G7776T:p.R2592R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.G7776T:p.R2592R;	0.00913467067777533	0.174
18	6959342	C	G	18	6959343	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon54:c.G7776C:p.R2592R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.G7776C:p.R2592R;	7.91320489499667E-5	0.0
18	6959342	C	T	18	6959343	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon54:c.G7776A:p.R2592R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.G7776A:p.R2592R;	4.05059111188853E-5	0.0
18	6959490	G	A	18	6959491	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.C7628T:p.P2543L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.C7628T:p.P2543L;	0.98399385352936	0.798
18	6959490	G	C	18	6959491	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.C7628G:p.P2543R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.C7628G:p.P2543R;	0.720386972113151	0.552
18	6959490	G	T	18	6959491	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.C7628A:p.P2543H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.C7628A:p.P2543H;	0.962419638509776	0.646
18	6959491	G	A	18	6959492	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.C7627T:p.P2543S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.C7627T:p.P2543S;	0.994552924516122	0.846
18	6959491	G	C	18	6959492	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.C7627G:p.P2543A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.C7627G:p.P2543A;	0.00140826525055518	0.14
18	6959491	G	T	18	6959492	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon54:c.C7627A:p.P2543T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon54:c.C7627A:p.P2543T;	0.794707428251392	0.666
18	6959492	C	A	18	6959493	y	y	splicing	LAMA1(NM_005559:exon55:c.7627-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7627-1G>T)	.	.	0.999899810475366	0.868
18	6959492	C	G	18	6959493	y	y	splicing	LAMA1(NM_005559:exon55:c.7627-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7627-1G>C)	.	.	0.999899810475366	0.89
18	6959492	C	T	18	6959493	y	y	splicing	LAMA1(NM_005559:exon55:c.7627-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7627-1G>A)	.	.	0.999896796890331	0.906
18	6959493	T	A	18	6959494	y	y	splicing	LAMA1(NM_005559:exon55:c.7627-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7627-2A>T)	.	.	0.999911630752671	0.872
18	6959493	T	C	18	6959494	y	y	splicing	LAMA1(NM_005559:exon55:c.7627-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7627-2A>G)	.	.	0.999838148113448	0.86
18	6959493	T	G	18	6959494	y	y	splicing	LAMA1(NM_005559:exon55:c.7627-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon55:c.7627-2A>C)	.	.	0.999838148113448	0.862
18	6959494	G	A	18	6959495	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.85315441347636E-4	0.094
18	6959494	G	C	18	6959495	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.991784909159168	0.782
18	6959494	G	T	18	6959495	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.769134655767707	0.766
18	6959495	G	A	18	6959496	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.4277155915396E-5	0.004
18	6959495	G	C	18	6959496	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.26825739530027E-5	0.0
18	6959495	G	T	18	6959496	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.03519777767113E-5	0.0
18	6959496	G	A	18	6959497	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.14084722393143E-5	0.0
18	6959496	G	C	18	6959497	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00334529764461046	0.156
18	6959496	G	T	18	6959497	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.47560969257772E-4	0.126
18	6959497	G	A	18	6959498	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.12043574884578E-5	0.002
18	6959497	G	C	18	6959498	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00896976343604667	0.246
18	6959497	G	T	18	6959498	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.013605753722094	0.254
18	6959498	A	C	18	6959499	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0543351489310494	0.404
18	6959498	A	G	18	6959499	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.8660714051581E-5	0.012
18	6959498	A	T	18	6959499	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0134896765457525	0.188
18	6959499	G	A	18	6959500	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.00255258812459E-4	0.01
18	6959499	G	C	18	6959500	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00263472321755695	0.19
18	6959499	G	T	18	6959500	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00679037419812454	0.194
18	6959500	G	A	18	6959501	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.6364861205399E-5	0.0
18	6959500	G	C	18	6959501	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.986141074809026	0.94
18	6959500	G	T	18	6959501	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97620812182608E-4	0.044
18	6959501	T	A	18	6959502	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45612225627207E-5	0.002
18	6959501	T	C	18	6959502	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.896045132127144	0.878
18	6959501	T	G	18	6959502	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45612225627207E-5	0.0
18	6959502	T	A	18	6959503	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.37259882075786E-5	0.05
18	6959502	T	C	18	6959503	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.11848901048002E-5	0.0
18	6959502	T	G	18	6959503	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.95048459408849E-5	0.0
18	6959503	G	A	18	6959504	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.67173160571826E-5	0.026
18	6959503	G	C	18	6959504	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00104841750491156	0.038
18	6959503	G	T	18	6959504	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00111625287413151	0.072
18	6961577	C	A	18	6961578	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00553077394794921	0.076
18	6961577	C	G	18	6961578	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0032982021857362	0.036
18	6961577	C	T	18	6961578	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00354637193878555	0.028
18	6961578	T	A	18	6961579	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.12847240735384E-5	0.0
18	6961578	T	C	18	6961579	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.12847240735384E-5	0.002
18	6961578	T	G	18	6961579	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.41660416073757E-5	0.0
18	6961579	A	C	18	6961580	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.325811930377595	0.488
18	6961579	A	G	18	6961580	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.464804290423832	0.532
18	6961579	A	T	18	6961580	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.893516292518323	0.594
18	6961580	C	A	18	6961581	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999966403143636	0.952
18	6961580	C	G	18	6961581	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999948958138746	0.97
18	6961580	C	T	18	6961581	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999818835531021	0.928
18	6961581	T	A	18	6961582	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.969228028116438	0.794
18	6961581	T	C	18	6961582	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.954151643573123	0.794
18	6961581	T	G	18	6961582	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.740758605520594	0.632
18	6961582	C	A	18	6961583	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.683497195705621	0.462
18	6961582	C	G	18	6961583	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.741862197125306	0.472
18	6961582	C	T	18	6961583	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.50379652360767E-4	0.0
18	6961583	A	C	18	6961584	y	y	splicing	LAMA1(NM_005559:exon54:c.7626+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7626+2T>G)	.	.	0.999969255906173	0.858
18	6961583	A	G	18	6961584	y	y	splicing	LAMA1(NM_005559:exon54:c.7626+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7626+2T>C)	.	.	0.999608724856664	0.822
18	6961583	A	T	18	6961584	y	y	splicing	LAMA1(NM_005559:exon54:c.7626+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7626+2T>A)	.	.	0.999972155025474	0.862
18	6961584	C	A	18	6961585	y	y	splicing	LAMA1(NM_005559:exon54:c.7626+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7626+1G>T)	.	.	0.999962153403958	0.878
18	6961584	C	G	18	6961585	y	y	splicing	LAMA1(NM_005559:exon54:c.7626+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7626+1G>C)	.	.	0.999962153403958	0.862
18	6961584	C	T	18	6961585	y	y	splicing	LAMA1(NM_005559:exon54:c.7626+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7626+1G>A)	.	.	0.999965722254998	0.884
18	6961585	C	A	18	6961586	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon53:c.G7626T:p.V2542V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.G7626T:p.V2542V;	0.991088781542741	0.716
18	6961585	C	G	18	6961586	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon53:c.G7626C:p.V2542V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.G7626C:p.V2542V;	0.995272478710394	0.608
18	6961585	C	T	18	6961586	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon53:c.G7626A:p.V2542V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.G7626A:p.V2542V;	0.997810883925056	0.902
18	6961586	A	C	18	6961587	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.T7625G:p.V2542G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.T7625G:p.V2542G;	1.01253351944735E-4	0.002
18	6961586	A	G	18	6961587	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.T7625C:p.V2542A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.T7625C:p.V2542A;	2.65588184344818E-5	0.0
18	6961586	A	T	18	6961587	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.T7625A:p.V2542E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.T7625A:p.V2542E;	8.98667676069311E-5	0.06
18	6961587	C	A	18	6961588	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.G7624T:p.V2542L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.G7624T:p.V2542L;	2.0843564690922E-4	0.064
18	6961587	C	G	18	6961588	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.G7624C:p.V2542L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.G7624C:p.V2542L;	2.29080880788299E-5	0.006
18	6961587	C	T	18	6961588	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.G7624A:p.V2542M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.G7624A:p.V2542M;	1.27969092548002E-4	0.006
18	6961757	G	A	18	6961758	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.C7454T:p.P2485L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.C7454T:p.P2485L;	0.984459528244975	0.774
18	6961757	G	C	18	6961758	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.C7454G:p.P2485R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.C7454G:p.P2485R;	0.943548057292644	0.676
18	6961757	G	T	18	6961758	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.C7454A:p.P2485H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.C7454A:p.P2485H;	0.9924784784299	0.774
18	6961758	G	A	18	6961759	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.C7453T:p.P2485S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.C7453T:p.P2485S;	0.995135030630038	0.836
18	6961758	G	C	18	6961759	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.C7453G:p.P2485A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.C7453G:p.P2485A;	0.00509506522734532	0.106
18	6961758	G	T	18	6961759	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon53:c.C7453A:p.P2485T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon53:c.C7453A:p.P2485T;	0.492002841058918	0.508
18	6961759	C	A	18	6961760	y	y	splicing	LAMA1(NM_005559:exon54:c.7453-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7453-1G>T)	.	.	0.999990361384395	0.94
18	6961759	C	G	18	6961760	y	y	splicing	LAMA1(NM_005559:exon54:c.7453-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7453-1G>C)	.	.	0.999990361384395	0.94
18	6961759	C	T	18	6961760	y	y	splicing	LAMA1(NM_005559:exon54:c.7453-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7453-1G>A)	.	.	0.999990361384395	0.94
18	6961760	T	A	18	6961761	y	y	splicing	LAMA1(NM_005559:exon54:c.7453-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7453-2A>T)	.	.	0.999988247793601	0.94
18	6961760	T	C	18	6961761	y	y	splicing	LAMA1(NM_005559:exon54:c.7453-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7453-2A>G)	.	.	0.999978952611685	0.938
18	6961760	T	G	18	6961761	y	y	splicing	LAMA1(NM_005559:exon54:c.7453-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon54:c.7453-2A>C)	.	.	0.999978952611685	0.94
18	6961761	G	A	18	6961762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00149251415275983	0.03
18	6961761	G	C	18	6961762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999823675441271	0.904
18	6961761	G	T	18	6961762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.917130220087119	0.768
18	6961762	G	A	18	6961763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.33045041064717E-5	0.0
18	6961762	G	C	18	6961763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.48623077692229E-4	0.18
18	6961762	G	T	18	6961763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.73259121548913E-5	0.006
18	6961763	A	C	18	6961764	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0849418439425014	0.252
18	6961763	A	G	18	6961764	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.41040114839148E-4	0.058
18	6961763	A	T	18	6961764	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0568255810876676	0.28
18	6961764	C	A	18	6961765	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.58800609919459E-5	0.01
18	6961764	C	G	18	6961765	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.55839782639238E-5	0.024
18	6961764	C	T	18	6961765	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.20452817855034E-4	0.008
18	6961765	A	C	18	6961766	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0163708312585433	0.112
18	6961765	A	G	18	6961766	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.11643273195949E-4	0.008
18	6961765	A	T	18	6961766	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997835116622658	0.94
18	6961766	C	A	18	6961767	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.42186612170768E-5	0.002
18	6961766	C	G	18	6961767	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.2359592015423E-5	0.024
18	6961766	C	T	18	6961767	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.47990540791504E-4	0.142
18	6961767	A	C	18	6961768	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.302610271412143	0.352
18	6961767	A	G	18	6961768	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.30548940099654E-5	0.026
18	6961767	A	T	18	6961768	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999803002974884	0.952
18	6961768	G	A	18	6961769	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.13764816454981E-5	0.002
18	6961768	G	C	18	6961769	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.15230311793365E-4	0.048
18	6961768	G	T	18	6961769	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.16076743407858E-4	0.064
18	6961769	A	C	18	6961770	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.259064561539092	0.47
18	6961769	A	G	18	6961770	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0244707173217971	0.21
18	6961769	A	T	18	6961770	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.953329340736264	0.596
18	6961770	G	A	18	6961771	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.26433270958985E-5	0.008
18	6961770	G	C	18	6961771	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00100203041005109	0.052
18	6961770	G	T	18	6961771	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00100242349831284	0.044
18	6961936	T	A	18	6961937	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.51116515816085E-5	0.0
18	6961936	T	C	18	6961937	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.44312574922614E-5	0.0
18	6961936	T	G	18	6961937	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.50357335416816E-5	0.002
18	6961937	T	A	18	6961938	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.74984383721442E-5	0.0
18	6961937	T	C	18	6961938	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.31876087330043E-5	0.0
18	6961937	T	G	18	6961938	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.52980255211855E-5	0.0
18	6961938	T	A	18	6961939	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15907774097948E-5	0.0
18	6961938	T	C	18	6961939	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.7206928158832E-4	0.014
18	6961938	T	G	18	6961939	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.82550959093663E-5	0.022
18	6961939	C	A	18	6961940	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999982883961982	0.936
18	6961939	C	G	18	6961940	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999969330380843	0.928
18	6961939	C	T	18	6961940	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999974461733814	0.922
18	6961940	C	A	18	6961941	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.55027396174424E-4	0.026
18	6961940	C	G	18	6961941	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.87096181577252E-4	0.032
18	6961940	C	T	18	6961941	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36025320229318E-4	0.12
18	6961941	T	A	18	6961942	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.767922367615486	0.594
18	6961941	T	C	18	6961942	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0657898086070571	0.332
18	6961941	T	G	18	6961942	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.878551060856753	0.628
18	6961942	A	C	18	6961943	y	y	splicing	LAMA1(NM_005559:exon53:c.7452+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7452+2T>G)	.	.	0.999971317418422	0.888
18	6961942	A	G	18	6961943	y	y	splicing	LAMA1(NM_005559:exon53:c.7452+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7452+2T>C)	.	.	0.967788928859094	0.606
18	6961942	A	T	18	6961943	y	y	splicing	LAMA1(NM_005559:exon53:c.7452+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7452+2T>A)	.	.	0.999971317418422	0.89
18	6961943	C	A	18	6961944	y	y	splicing	LAMA1(NM_005559:exon53:c.7452+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7452+1G>T)	.	.	0.999970205305079	0.928
18	6961943	C	G	18	6961944	y	y	splicing	LAMA1(NM_005559:exon53:c.7452+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7452+1G>C)	.	.	0.999960597114489	0.898
18	6961943	C	T	18	6961944	y	y	splicing	LAMA1(NM_005559:exon53:c.7452+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7452+1G>A)	.	.	0.999971209564868	0.928
18	6961944	C	A	18	6961945	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.G7452T:p.E2484D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.G7452T:p.E2484D;	0.99996931888863	1.0
18	6961944	C	G	18	6961945	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.G7452C:p.E2484D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.G7452C:p.E2484D;	0.999989534370744	0.994
18	6961944	C	T	18	6961945	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon52:c.G7452A:p.E2484E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.G7452A:p.E2484E;	0.999927113748537	0.984
18	6961945	T	A	18	6961946	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.A7451T:p.E2484V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.A7451T:p.E2484V;	0.99991911885945	0.996
18	6961945	T	C	18	6961946	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.A7451G:p.E2484G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.A7451G:p.E2484G;	0.999908025053785	0.972
18	6961945	T	G	18	6961946	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.A7451C:p.E2484A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.A7451C:p.E2484A;	0.993274943970346	0.874
18	6961946	C	A	18	6961947	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon52:c.G7450T:p.E2484X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon52:c.G7450T:p.E2484X;	0.99800372834172	0.888
18	6961946	C	G	18	6961947	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.G7450C:p.E2484Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.G7450C:p.E2484Q;	0.00113870407968842	0.042
18	6961946	C	T	18	6961947	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.G7450A:p.E2484K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.G7450A:p.E2484K;	0.00420882482075099	0.04
18	6962057	T	A	18	6962058	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon52:c.A7339T:p.R2447X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon52:c.A7339T:p.R2447X;	0.796886340181196	0.876
18	6962057	T	C	18	6962058	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.A7339G:p.R2447G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.A7339G:p.R2447G;	0.00450700030341241	0.016
18	6962057	T	G	18	6962058	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon52:c.A7339C:p.R2447R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.A7339C:p.R2447R;	0.00131027161747794	0.03
18	6962058	C	A	18	6962059	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.G7338T:p.R2446S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.G7338T:p.R2446S;	0.687193036170182	0.516
18	6962058	C	G	18	6962059	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon52:c.G7338C:p.R2446S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.G7338C:p.R2446S;	0.0234192717988463	0.342
18	6962058	C	T	18	6962059	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon52:c.G7338A:p.R2446R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon52:c.G7338A:p.R2446R;	0.00131457910630372	0.204
18	6962059	C	A	18	6962060	y	y	splicing	LAMA1(NM_005559:exon53:c.7338-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7338-1G>T)	.	.	0.999965722254998	0.884
18	6962059	C	G	18	6962060	y	y	splicing	LAMA1(NM_005559:exon53:c.7338-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7338-1G>C)	.	.	0.999962153403958	0.878
18	6962059	C	T	18	6962060	y	y	splicing	LAMA1(NM_005559:exon53:c.7338-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7338-1G>A)	.	.	0.999965722254998	0.87
18	6962060	T	A	18	6962061	y	y	splicing	LAMA1(NM_005559:exon53:c.7338-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7338-2A>T)	.	.	0.999969255906173	0.862
18	6962060	T	C	18	6962061	y	y	splicing	LAMA1(NM_005559:exon53:c.7338-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7338-2A>G)	.	.	0.999969712949741	0.84
18	6962060	T	G	18	6962061	y	y	splicing	LAMA1(NM_005559:exon53:c.7338-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon53:c.7338-2A>C)	.	.	0.999969712949741	0.84
18	6962061	G	A	18	6962062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00131557380221001	0.012
18	6962061	G	C	18	6962062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999429375949958	0.87
18	6962061	G	T	18	6962062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.777703818221576	0.564
18	6962062	T	A	18	6962063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.90518152540328E-5	0.0
18	6962062	T	C	18	6962063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15064421563079E-5	0.0
18	6962062	T	G	18	6962063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.0688818911624E-6	0.004
18	6962063	A	C	18	6962064	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00746554831300007	0.18
18	6962063	A	G	18	6962064	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26524253342494E-4	0.032
18	6962063	A	T	18	6962064	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00537611214777625	0.202
18	6962064	G	A	18	6962065	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.62826099205067E-5	0.0
18	6962064	G	C	18	6962065	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0019549791983834	0.128
18	6962064	G	T	18	6962065	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00208271757011057	0.14
18	6962065	G	A	18	6962066	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.43606880869432E-5	0.016
18	6962065	G	C	18	6962066	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00339636240963773	0.038
18	6962065	G	T	18	6962066	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00169889386491542	0.08
18	6962066	G	A	18	6962067	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.52501520101618E-5	0.0
18	6962066	G	C	18	6962067	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.6897324552137E-4	0.078
18	6962066	G	T	18	6962067	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.47690411122718E-4	0.018
18	6962067	A	C	18	6962068	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.43967483808364E-4	0.054
18	6962067	A	G	18	6962068	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.42312470645184E-5	0.0
18	6962067	A	T	18	6962068	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.387925711639E-4	0.05
18	6962068	A	C	18	6962069	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0544596077291612	0.348
18	6962068	A	G	18	6962069	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00252140001204551	0.058
18	6962068	A	T	18	6962069	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.310943697643057	0.42
18	6962069	G	A	18	6962070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.82235019367172E-5	0.014
18	6962069	G	C	18	6962070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.83377582752109E-4	0.028
18	6962069	G	T	18	6962070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.40480134074564E-4	0.08
18	6962070	G	A	18	6962071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.18875158098703E-4	0.004
18	6962070	G	C	18	6962071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.74861119325368E-4	0.022
18	6962070	G	T	18	6962071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.51449158265441E-4	0.06
18	6964653	T	A	18	6964654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.30675687931358E-5	0.0
18	6964653	T	C	18	6964654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.79086384610276E-4	0.0
18	6964653	T	G	18	6964654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.18626670136206E-4	0.006
18	6964654	A	C	18	6964655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.21399734562628E-4	0.002
18	6964654	A	G	18	6964655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.75358852819698E-5	0.002
18	6964654	A	T	18	6964655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.26598320674318E-5	0.0
18	6964655	A	C	18	6964656	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.34415318253382E-4	0.118
18	6964655	A	G	18	6964656	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0178343347435896	0.216
18	6964655	A	T	18	6964656	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00439952100888302	0.116
18	6964656	T	A	18	6964657	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.57731938434874E-4	0.046
18	6964656	T	C	18	6964657	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.0424846791013E-5	0.018
18	6964656	T	G	18	6964657	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00151191792233111	0.04
18	6964657	A	C	18	6964658	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.0609308374313E-4	0.016
18	6964657	A	G	18	6964658	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.38228364941443E-4	0.082
18	6964657	A	T	18	6964658	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.30037158068399E-4	0.12
18	6964658	T	A	18	6964659	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996721761946325	0.838
18	6964658	T	C	18	6964659	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997947990389664	0.802
18	6964658	T	G	18	6964659	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999784306041395	0.952
18	6964659	A	C	18	6964660	y	y	splicing	LAMA1(NM_005559:exon52:c.7337+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7337+2T>G)	.	.	0.999957317860884	0.956
18	6964659	A	G	18	6964660	y	y	splicing	LAMA1(NM_005559:exon52:c.7337+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7337+2T>C)	.	.	0.962309791773556	0.716
18	6964659	A	T	18	6964660	y	y	splicing	LAMA1(NM_005559:exon52:c.7337+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7337+2T>A)	.	.	0.999957317860884	0.952
18	6964660	C	A	18	6964661	y	y	splicing	LAMA1(NM_005559:exon52:c.7337+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7337+1G>T)	.	.	0.999964993890792	0.944
18	6964660	C	G	18	6964661	y	y	splicing	LAMA1(NM_005559:exon52:c.7337+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7337+1G>C)	.	.	0.999964993890792	0.948
18	6964660	C	T	18	6964661	y	y	splicing	LAMA1(NM_005559:exon52:c.7337+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7337+1G>A)	.	.	0.999964993890792	0.944
18	6964661	C	A	18	6964662	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon51:c.G7337T:p.R2446M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.G7337T:p.R2446M;	0.999995553603527	1.0
18	6964661	C	G	18	6964662	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon51:c.G7337C:p.R2446T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.G7337C:p.R2446T;	0.999997925665413	1.0
18	6964661	C	T	18	6964662	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon51:c.G7337A:p.R2446K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.G7337A:p.R2446K;	0.999993999738544	1.0
18	6964662	T	A	18	6964663	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon51:c.A7336T:p.R2446W;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7336T:p.R2446W;	0.999951547993739	0.998
18	6964662	T	C	18	6964663	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon51:c.A7336G:p.R2446G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7336G:p.R2446G;	0.999951547993739	1.0
18	6964662	T	G	18	6964663	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon51:c.A7336C:p.R2446R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7336C:p.R2446R;	0.977175005926683	0.792
18	6964663	T	A	18	6964664	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon51:c.A7335T:p.V2445V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7335T:p.V2445V;	0.508411131752244	0.398
18	6964663	T	C	18	6964664	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon51:c.A7335G:p.V2445V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7335G:p.V2445V;	8.45114834120673E-4	0.126
18	6964663	T	G	18	6964664	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon51:c.A7335C:p.V2445V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7335C:p.V2445V;	2.35186789954057E-5	0.0
18	6964801	T	A	18	6964802	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon51:c.A7197T:p.G2399G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7197T:p.G2399G;	1.56737120442733E-5	0.0
18	6964801	T	C	18	6964802	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon51:c.A7197G:p.G2399G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7197G:p.G2399G;	1.33756053328303E-4	0.012
18	6964801	T	G	18	6964802	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon51:c.A7197C:p.G2399G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.A7197C:p.G2399G;	1.09230528770891E-4	0.0
18	6964802	C	A	18	6964803	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon51:c.G7196T:p.G2399V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.G7196T:p.G2399V;	0.999943803476757	0.994
18	6964802	C	G	18	6964803	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon51:c.G7196C:p.G2399A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.G7196C:p.G2399A;	0.913899604417154	0.538
18	6964802	C	T	18	6964803	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon51:c.G7196A:p.G2399E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon51:c.G7196A:p.G2399E;	0.9994716370826	0.954
18	6964803	C	A	18	6964804	y	y	splicing	LAMA1(NM_005559:exon52:c.7196-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7196-1G>T)	.	.	0.999976475802857	0.908
18	6964803	C	G	18	6964804	y	y	splicing	LAMA1(NM_005559:exon52:c.7196-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7196-1G>C)	.	.	0.999976475802857	0.908
18	6964803	C	T	18	6964804	y	y	splicing	LAMA1(NM_005559:exon52:c.7196-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7196-1G>A)	.	.	0.999976475802857	0.906
18	6964804	T	A	18	6964805	y	y	splicing	LAMA1(NM_005559:exon52:c.7196-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7196-2A>T)	.	.	0.999971317418422	0.896
18	6964804	T	C	18	6964805	y	y	splicing	LAMA1(NM_005559:exon52:c.7196-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7196-2A>G)	.	.	0.999972155025474	0.852
18	6964804	T	G	18	6964805	y	y	splicing	LAMA1(NM_005559:exon52:c.7196-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon52:c.7196-2A>C)	.	.	0.999972155025474	0.846
18	6964805	A	C	18	6964806	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.641659272939011	0.588
18	6964805	A	G	18	6964806	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.42451590194228E-5	0.002
18	6964805	A	T	18	6964806	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00187456495880736	0.136
18	6964806	A	C	18	6964807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.85631497358676E-4	0.036
18	6964806	A	G	18	6964807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.90138633564686E-5	0.0
18	6964806	A	T	18	6964807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.99455752793306E-5	0.004
18	6964807	A	C	18	6964808	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00199062031711867	0.212
18	6964807	A	G	18	6964808	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.61410801176843E-5	0.024
18	6964807	A	T	18	6964808	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00179249742474837	0.188
18	6964808	A	C	18	6964809	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00140116799998768	0.086
18	6964808	A	G	18	6964809	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.26726561465434E-5	0.002
18	6964808	A	T	18	6964809	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97321336384436E-4	0.04
18	6964809	G	A	18	6964810	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.95823485892972E-5	0.0
18	6964809	G	C	18	6964810	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0012511876359518	0.112
18	6964809	G	T	18	6964810	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.0016071247144E-4	0.106
18	6964810	G	A	18	6964811	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.3616569780854E-5	0.004
18	6964810	G	C	18	6964811	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00137113021432614	0.082
18	6964810	G	T	18	6964811	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00310051030170964	0.104
18	6964811	A	C	18	6964812	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00439266425383425	0.094
18	6964811	A	G	18	6964812	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.64786813827141E-4	0.0
18	6964811	A	T	18	6964812	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00811596626420365	0.11
18	6964812	G	A	18	6964813	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.96607181024211E-5	0.002
18	6964812	G	C	18	6964813	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00261297213209831	0.048
18	6964812	G	T	18	6964813	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00170969089762306	0.018
18	6964813	A	C	18	6964814	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.77807284472456E-4	0.054
18	6964813	A	G	18	6964814	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.95141714508263E-5	0.002
18	6964813	A	T	18	6964814	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0015023599136935	0.114
18	6964814	G	A	18	6964815	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.05156065868424E-5	0.002
18	6964814	G	C	18	6964815	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.30320991429402E-5	0.032
18	6964814	G	T	18	6964815	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.24297394221295E-5	0.002
18	6965279	G	A	18	6965280	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.157564743965E-4	0.0
18	6965279	G	C	18	6965280	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.424277081993E-4	0.0
18	6965279	G	T	18	6965280	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.424277081993E-4	0.0
18	6965280	T	A	18	6965281	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.03020017419671E-4	0.0
18	6965280	T	C	18	6965281	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.93649745521365E-4	0.0
18	6965280	T	G	18	6965281	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.91871319634386E-5	0.0
18	6965281	C	A	18	6965282	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.78453896763787E-5	0.0
18	6965281	C	G	18	6965282	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.35213495768674E-5	0.0
18	6965281	C	T	18	6965282	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.08475809754381E-5	0.0
18	6965282	C	A	18	6965283	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.418792458191701	0.354
18	6965282	C	G	18	6965283	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.130458751837937	0.276
18	6965282	C	T	18	6965283	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.243193324738005	0.338
18	6965283	C	A	18	6965284	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.82670344012037E-5	0.004
18	6965283	C	G	18	6965284	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.9914322494037E-5	0.006
18	6965283	C	T	18	6965284	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.14971896958734E-4	0.028
18	6965284	T	A	18	6965285	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.84409583259039	0.578
18	6965284	T	C	18	6965285	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00909553233210725	0.168
18	6965284	T	G	18	6965285	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.864512970584299	0.62
18	6965285	A	C	18	6965286	y	y	splicing	LAMA1(NM_005559:exon51:c.7195+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7195+2T>G)	.	.	0.999955521744805	0.93
18	6965285	A	G	18	6965286	y	y	splicing	LAMA1(NM_005559:exon51:c.7195+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7195+2T>C)	.	.	0.966777167668265	0.568
18	6965285	A	T	18	6965286	y	y	splicing	LAMA1(NM_005559:exon51:c.7195+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7195+2T>A)	.	.	0.999955521744805	0.936
18	6965286	C	A	18	6965287	y	y	splicing	LAMA1(NM_005559:exon51:c.7195+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7195+1G>T)	.	.	0.999962297682439	0.934
18	6965286	C	G	18	6965287	y	y	splicing	LAMA1(NM_005559:exon51:c.7195+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7195+1G>C)	.	.	0.999962297682439	0.938
18	6965286	C	T	18	6965287	y	y	splicing	LAMA1(NM_005559:exon51:c.7195+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7195+1G>A)	.	.	0.999979634257806	0.934
18	6965287	C	A	18	6965288	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon50:c.G7195T:p.G2399X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon50:c.G7195T:p.G2399X;	0.999991239447877	1.0
18	6965287	C	G	18	6965288	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.G7195C:p.G2399R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.G7195C:p.G2399R;	0.999997526354268	0.99
18	6965287	C	T	18	6965288	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.G7195A:p.G2399R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.G7195A:p.G2399R;	0.999991221089541	1.0
18	6965288	T	A	18	6965289	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7194T:p.Q2398H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7194T:p.Q2398H;	0.999761344304242	0.98
18	6965288	T	C	18	6965289	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon50:c.A7194G:p.Q2398Q;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7194G:p.Q2398Q;	0.999570202475153	0.97
18	6965288	T	G	18	6965289	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7194C:p.Q2398H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7194C:p.Q2398H;	0.998399838996971	0.918
18	6965289	T	A	18	6965290	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7193T:p.Q2398L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7193T:p.Q2398L;	0.38849878287725	0.55
18	6965289	T	C	18	6965290	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7193G:p.Q2398R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7193G:p.Q2398R;	0.00420584130187103	0.118
18	6965289	T	G	18	6965290	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7193C:p.Q2398P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7193C:p.Q2398P;	0.0141528274431283	0.204
18	6965430	T	A	18	6965431	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7052T:p.K2351I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7052T:p.K2351I;	0.00161422827483419	0.16
18	6965430	T	C	18	6965431	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7052G:p.K2351R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7052G:p.K2351R;	1.71143507232843E-4	0.13
18	6965430	T	G	18	6965431	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7052C:p.K2351T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7052C:p.K2351T;	0.0116950991397293	0.184
18	6965431	T	A	18	6965432	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon50:c.A7051T:p.K2351X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon50:c.A7051T:p.K2351X;	0.934100945306237	0.7
18	6965431	T	C	18	6965432	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7051G:p.K2351E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7051G:p.K2351E;	0.723396275066965	0.724
18	6965431	T	G	18	6965432	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.A7051C:p.K2351Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon50:c.A7051C:p.K2351Q;	0.87113827401003	0.636
18	6965432	C	A	18	6965433	y	y	splicing	LAMA1(NM_005559:exon51:c.7051-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7051-1G>T)	.	.	0.999990361384395	0.936
18	6965432	C	G	18	6965433	y	y	splicing	LAMA1(NM_005559:exon51:c.7051-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7051-1G>C)	.	.	0.999990361384395	0.936
18	6965432	C	T	18	6965433	y	y	splicing	LAMA1(NM_005559:exon51:c.7051-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7051-1G>A)	.	.	0.999990361384395	0.936
18	6965433	T	A	18	6965434	y	y	splicing	LAMA1(NM_005559:exon51:c.7051-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7051-2A>T)	.	.	0.999988247793601	0.932
18	6965433	T	C	18	6965434	y	y	splicing	LAMA1(NM_005559:exon51:c.7051-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7051-2A>G)	.	.	0.999988247793601	0.932
18	6965433	T	G	18	6965434	y	y	splicing	LAMA1(NM_005559:exon51:c.7051-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon51:c.7051-2A>C)	.	.	0.999988247793601	0.932
18	6965434	G	A	18	6965435	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0293615810404817	0.208
18	6965434	G	C	18	6965435	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999869153413895	0.964
18	6965434	G	T	18	6965435	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.990423569229646	0.838
18	6965435	T	A	18	6965436	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00165006667104578	0.076
18	6965435	T	C	18	6965436	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.59982061516216E-4	0.106
18	6965435	T	G	18	6965436	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.27807583238612E-4	0.082
18	6965436	A	C	18	6965437	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0172078962812979	0.3
18	6965436	A	G	18	6965437	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00489032256176775	0.168
18	6965436	A	T	18	6965437	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0544529647611236	0.344
18	6965437	A	C	18	6965438	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00422464410392041	0.082
18	6965437	A	G	18	6965438	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97856295450379E-4	0.002
18	6965437	A	T	18	6965438	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00365463500699407	0.042
18	6965438	A	C	18	6965439	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0176649797036056	0.098
18	6965438	A	G	18	6965439	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.80384286503472E-4	0.008
18	6965438	A	T	18	6965439	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0034674379081575	0.054
18	6965439	A	C	18	6965440	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00267886552360591	0.164
18	6965439	A	G	18	6965440	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10791799577612E-4	0.008
18	6965439	A	T	18	6965440	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00489718855990224	0.138
18	6965440	A	C	18	6965441	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00487660986440928	0.082
18	6965440	A	G	18	6965441	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.9158712031094E-5	0.014
18	6965440	A	T	18	6965441	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00128664538638708	0.076
18	6965441	A	C	18	6965442	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.018629029727853	0.146
18	6965441	A	G	18	6965442	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00169136578549055	0.054
18	6965441	A	T	18	6965442	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0625121057184734	0.178
18	6965442	G	A	18	6965443	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15967771956503E-5	0.01
18	6965442	G	C	18	6965443	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.79579019570723E-4	0.07
18	6965442	G	T	18	6965443	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.82813559509581E-4	0.036
18	6965443	A	C	18	6965444	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.203632460707244	0.328
18	6965443	A	G	18	6965444	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00498458522133085	0.138
18	6965443	A	T	18	6965444	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.319517547329944	0.368
18	6966138	A	C	18	6966139	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.67948068319571E-5	0.0
18	6966138	A	G	18	6966139	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.26598320674318E-5	0.0
18	6966138	A	T	18	6966139	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.42667985745626E-5	0.018
18	6966139	C	A	18	6966140	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.02003306815881E-4	0.034
18	6966139	C	G	18	6966140	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.64790385779303E-4	0.008
18	6966139	C	T	18	6966140	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.71005397338542E-5	0.004
18	6966140	T	A	18	6966141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00101846615023842	0.076
18	6966140	T	C	18	6966141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00325581949476894	0.022
18	6966140	T	G	18	6966141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00446797844814207	0.142
18	6966141	C	A	18	6966142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99999142612142	0.992
18	6966141	C	G	18	6966142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999994574433215	0.996
18	6966141	C	T	18	6966142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999982071284523	0.988
18	6966142	T	A	18	6966143	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995578384196818	0.838
18	6966142	T	C	18	6966143	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998824226491116	0.888
18	6966142	T	G	18	6966143	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998603197704794	0.794
18	6966143	T	A	18	6966144	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999714212558596	0.93
18	6966143	T	C	18	6966144	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.90265231244369	0.534
18	6966143	T	G	18	6966144	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999672105602354	0.916
18	6966144	A	C	18	6966145	y	y	splicing	LAMA1(NM_005559:exon50:c.7050+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.7050+2T>G)	.	.	0.99998491298609	0.916
18	6966144	A	G	18	6966145	y	y	splicing	LAMA1(NM_005559:exon50:c.7050+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.7050+2T>C)	.	.	0.999878849052897	0.832
18	6966144	A	T	18	6966145	y	y	splicing	LAMA1(NM_005559:exon50:c.7050+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.7050+2T>A)	.	.	0.999974729200583	0.916
18	6966145	C	A	18	6966146	y	y	splicing	LAMA1(NM_005559:exon50:c.7050+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.7050+1G>T)	.	.	0.999971317418422	0.914
18	6966145	C	G	18	6966146	y	y	splicing	LAMA1(NM_005559:exon50:c.7050+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.7050+1G>C)	.	.	0.999971317418422	0.918
18	6966145	C	T	18	6966146	y	y	splicing	LAMA1(NM_005559:exon50:c.7050+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.7050+1G>A)	.	.	0.999951957019574	0.928
18	6966146	T	A	18	6966147	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon49:c.A7050T:p.T2350T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.A7050T:p.T2350T;	3.31032320799846E-4	0.348
18	6966146	T	C	18	6966147	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon49:c.A7050G:p.T2350T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.A7050G:p.T2350T;	1.71798815118889E-4	0.196
18	6966146	T	G	18	6966147	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon49:c.A7050C:p.T2350T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.A7050C:p.T2350T;	2.29891957336198E-5	0.082
18	6966147	G	A	18	6966148	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.C7049T:p.T2350I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.C7049T:p.T2350I;	0.00102467265241074	0.242
18	6966147	G	C	18	6966148	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.C7049G:p.T2350R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.C7049G:p.T2350R;	7.69905333201578E-4	0.14
18	6966147	G	T	18	6966148	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.C7049A:p.T2350K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.C7049A:p.T2350K;	1.94772659006853E-5	0.094
18	6966148	T	A	18	6966149	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.A7048T:p.T2350S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.A7048T:p.T2350S;	0.995099559044727	0.626
18	6966148	T	C	18	6966149	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.A7048G:p.T2350A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.A7048G:p.T2350A;	0.700808261621714	0.47
18	6966148	T	G	18	6966149	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.A7048C:p.T2350P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.A7048C:p.T2350P;	0.665914422050074	0.444
18	6966295	A	C	18	6966296	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.T6901G:p.S2301A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.T6901G:p.S2301A;	1.96400029662324E-5	0.03
18	6966295	A	G	18	6966296	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.T6901C:p.S2301P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.T6901C:p.S2301P;	1.07148565447027E-4	0.01
18	6966295	A	T	18	6966296	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.T6901A:p.S2301T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.T6901A:p.S2301T;	1.38232130652092E-5	0.038
18	6966296	G	A	18	6966297	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon49:c.C6900T:p.S2300S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.C6900T:p.S2300S;	0.00121581213879338	0.046
18	6966296	G	C	18	6966297	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.C6900G:p.S2300R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.C6900G:p.S2300R;	3.60260954492848E-4	0.22
18	6966296	G	T	18	6966297	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon49:c.C6900A:p.S2300R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon49:c.C6900A:p.S2300R;	2.04041154152472E-4	0.22
18	6966297	C	A	18	6966298	y	y	splicing	LAMA1(NM_005559:exon50:c.6900-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.6900-1G>T)	.	.	0.999986675681007	0.932
18	6966297	C	G	18	6966298	y	y	splicing	LAMA1(NM_005559:exon50:c.6900-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.6900-1G>C)	.	.	0.999986675681007	0.932
18	6966297	C	T	18	6966298	y	y	splicing	LAMA1(NM_005559:exon50:c.6900-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.6900-1G>A)	.	.	0.999986675681007	0.932
18	6966298	T	A	18	6966299	y	y	splicing	LAMA1(NM_005559:exon50:c.6900-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.6900-2A>T)	.	.	0.999988247793601	0.928
18	6966298	T	C	18	6966299	y	y	splicing	LAMA1(NM_005559:exon50:c.6900-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.6900-2A>G)	.	.	0.999988247793601	0.926
18	6966298	T	G	18	6966299	y	y	splicing	LAMA1(NM_005559:exon50:c.6900-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon50:c.6900-2A>C)	.	.	0.999988247793601	0.926
18	6966299	G	A	18	6966300	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0510577159954219	0.184
18	6966299	G	C	18	6966300	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999596950243089	0.92
18	6966299	G	T	18	6966300	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.963449314617758	0.69
18	6966300	C	A	18	6966301	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.41047430695066E-5	0.1
18	6966300	C	G	18	6966301	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.00748813218052E-5	0.088
18	6966300	C	T	18	6966301	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.66155403934659E-5	0.08
18	6966301	A	C	18	6966302	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.120260045824465	0.46
18	6966301	A	G	18	6966302	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.01300602967674	0.132
18	6966301	A	T	18	6966302	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999822197652256	0.942
18	6966302	A	C	18	6966303	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00329070879705191	0.106
18	6966302	A	G	18	6966303	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.69006477263721E-5	0.004
18	6966302	A	T	18	6966303	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00209871606300437	0.09
18	6966303	A	C	18	6966304	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.58269215603697E-4	0.026
18	6966303	A	G	18	6966304	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.50885422316792E-5	0.022
18	6966303	A	T	18	6966304	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.38949494891806E-4	0.026
18	6966304	G	A	18	6966305	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.64722676070143E-5	0.0
18	6966304	G	C	18	6966305	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.12693437681423E-4	0.056
18	6966304	G	T	18	6966305	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.43069608474737E-4	0.058
18	6966305	C	A	18	6966306	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.40541571656663E-6	0.05
18	6966305	C	G	18	6966306	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.71115322170085E-6	0.054
18	6966305	C	T	18	6966306	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.89756291497599E-5	0.042
18	6966306	A	C	18	6966307	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0409155710157949	0.258
18	6966306	A	G	18	6966307	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00171336279186035	0.078
18	6966306	A	T	18	6966307	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999844443367663	0.936
18	6966307	G	A	18	6966308	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36045877252373E-4	0.21
18	6966307	G	C	18	6966308	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.59347662268079E-5	0.032
18	6966307	G	T	18	6966308	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.90627609311217E-4	0.078
18	6966308	A	C	18	6966309	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.61468642055323E-4	0.192
18	6966308	A	G	18	6966309	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.49816747676107E-5	0.084
18	6966308	A	T	18	6966309	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.99134475985187E-4	0.27
18	6971848	C	A	18	6971849	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.84615609883526E-5	0.0
18	6971848	C	G	18	6971849	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.11477491073792E-4	0.006
18	6971848	C	T	18	6971849	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.84615609883526E-5	0.0
18	6971849	A	C	18	6971850	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.66324908533707E-5	0.0
18	6971849	A	G	18	6971850	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.66324908533707E-5	0.008
18	6971849	A	T	18	6971850	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.62396676174111E-4	0.012
18	6971850	T	A	18	6971851	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.45455496494553E-5	0.016
18	6971850	T	C	18	6971851	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.89179081500747E-5	0.004
18	6971850	T	G	18	6971851	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.21297353107161E-4	0.014
18	6971851	C	A	18	6971852	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.426336083980576	0.326
18	6971851	C	G	18	6971852	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.144151113054113	0.352
18	6971851	C	T	18	6971852	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.689715701210611	0.38
18	6971852	T	A	18	6971853	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.262806228184798	0.412
18	6971852	T	C	18	6971853	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.216513337397243	0.444
18	6971852	T	G	18	6971853	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0825853287193532	0.384
18	6971853	T	A	18	6971854	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.679575546239321	0.446
18	6971853	T	C	18	6971854	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00218062028005121	0.082
18	6971853	T	G	18	6971854	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.718962903090346	0.474
18	6971854	A	C	18	6971855	y	y	splicing	LAMA1(NM_005559:exon49:c.6899+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6899+2T>G)	.	.	0.999946188727699	0.94
18	6971854	A	G	18	6971855	y	y	splicing	LAMA1(NM_005559:exon49:c.6899+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6899+2T>C)	.	.	0.965449737545375	0.648
18	6971854	A	T	18	6971855	y	y	splicing	LAMA1(NM_005559:exon49:c.6899+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6899+2T>A)	.	.	0.999946188727699	0.946
18	6971855	C	A	18	6971856	y	y	splicing	LAMA1(NM_005559:exon49:c.6899+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6899+1G>T)	.	.	0.99995586615188	0.948
18	6971855	C	G	18	6971856	y	y	splicing	LAMA1(NM_005559:exon49:c.6899+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6899+1G>C)	.	.	0.99995586615188	0.946
18	6971855	C	T	18	6971856	y	y	splicing	LAMA1(NM_005559:exon49:c.6899+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6899+1G>A)	.	.	0.99995545544995	0.948
18	6971856	C	A	18	6971857	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.G6899T:p.S2300I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.G6899T:p.S2300I;	0.999979273970222	0.976
18	6971856	C	G	18	6971857	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.G6899C:p.S2300T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.G6899C:p.S2300T;	0.999952561367292	0.916
18	6971856	C	T	18	6971857	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.G6899A:p.S2300N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.G6899A:p.S2300N;	0.999977537729234	0.99
18	6971857	T	A	18	6971858	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.A6898T:p.S2300C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6898T:p.S2300C;	0.990747234687304	0.86
18	6971857	T	C	18	6971858	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.A6898G:p.S2300G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6898G:p.S2300G;	0.998952698490456	0.984
18	6971857	T	G	18	6971858	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.A6898C:p.S2300R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6898C:p.S2300R;	0.993700592555628	0.91
18	6971858	T	A	18	6971859	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon48:c.A6897T:p.G2299G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6897T:p.G2299G;	0.0408063316796533	0.268
18	6971858	T	C	18	6971859	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon48:c.A6897G:p.G2299G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6897G:p.G2299G;	4.43190373993425E-4	0.018
18	6971858	T	G	18	6971859	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon48:c.A6897C:p.G2299G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6897C:p.G2299G;	3.30139634407129E-4	0.0
18	6971979	T	A	18	6971980	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.A6776T:p.K2259I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6776T:p.K2259I;	0.891152251343462	0.732
18	6971979	T	C	18	6971980	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.A6776G:p.K2259R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6776G:p.K2259R;	0.821828114083055	0.512
18	6971979	T	G	18	6971980	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.A6776C:p.K2259T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6776C:p.K2259T;	0.8664485191877	0.64
18	6971980	T	A	18	6971981	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon48:c.A6775T:p.K2259X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon48:c.A6775T:p.K2259X;	0.888765093106864	0.602
18	6971980	T	C	18	6971981	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.A6775G:p.K2259E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6775G:p.K2259E;	0.759928173110421	0.598
18	6971980	T	G	18	6971981	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon48:c.A6775C:p.K2259Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon48:c.A6775C:p.K2259Q;	0.9297806988457	0.612
18	6971981	C	A	18	6971982	y	y	splicing	LAMA1(NM_005559:exon49:c.6775-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6775-1G>T)	.	.	0.999990361384395	0.942
18	6971981	C	G	18	6971982	y	y	splicing	LAMA1(NM_005559:exon49:c.6775-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6775-1G>C)	.	.	0.999990361384395	0.942
18	6971981	C	T	18	6971982	y	y	splicing	LAMA1(NM_005559:exon49:c.6775-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6775-1G>A)	.	.	0.999990361384395	0.942
18	6971982	T	A	18	6971983	y	y	splicing	LAMA1(NM_005559:exon49:c.6775-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6775-2A>T)	.	.	0.999988247793601	0.936
18	6971982	T	C	18	6971983	y	y	splicing	LAMA1(NM_005559:exon49:c.6775-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6775-2A>G)	.	.	0.999988247793601	0.936
18	6971982	T	G	18	6971983	y	y	splicing	LAMA1(NM_005559:exon49:c.6775-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon49:c.6775-2A>C)	.	.	0.999988247793601	0.936
18	6971983	A	C	18	6971984	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.990866922922349	0.704
18	6971983	A	G	18	6971984	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.61769907065896E-5	0.006
18	6971983	A	T	18	6971984	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.684261378582565	0.528
18	6971984	A	C	18	6971985	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996716740503625	0.816
18	6971984	A	G	18	6971985	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.31078015950391E-5	0.006
18	6971984	A	T	18	6971985	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.678885568938E-5	0.002
18	6971985	T	A	18	6971986	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.22692927701774E-4	0.134
18	6971985	T	C	18	6971986	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.32624758089944E-4	0.026
18	6971985	T	G	18	6971986	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.88971595903228E-5	0.06
18	6971986	G	A	18	6971987	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.24144370345986E-5	0.0
18	6971986	G	C	18	6971987	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00139239105533532	0.13
18	6971986	G	T	18	6971987	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00250198955500996	0.2
18	6971987	C	A	18	6971988	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.61327626129568E-5	0.0
18	6971987	C	G	18	6971988	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.61327626129568E-5	0.006
18	6971987	C	T	18	6971988	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.02230336351411E-4	0.006
18	6971988	A	C	18	6971989	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.871018985334641	0.576
18	6971988	A	G	18	6971989	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0107419959568085	0.07
18	6971988	A	T	18	6971989	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99995063909284	0.986
18	6971989	A	C	18	6971990	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00545703103681702	0.192
18	6971989	A	G	18	6971990	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.12614543296047E-4	0.03
18	6971989	A	T	18	6971990	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.493447095329531	0.452
18	6971990	A	C	18	6971991	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.82411351165167	0.594
18	6971990	A	G	18	6971991	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0134942309052222	0.19
18	6971990	A	T	18	6971991	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.817331678181521	0.682
18	6971991	C	A	18	6971992	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.42000926184745E-5	0.038
18	6971991	C	G	18	6971992	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.68904076410993E-5	0.0
18	6971991	C	T	18	6971992	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00103186155360956	0.028
18	6971992	A	C	18	6971993	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0506898801389863	0.48
18	6971992	A	G	18	6971993	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.40836722092795E-4	0.1
18	6971992	A	T	18	6971993	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999917706052961	0.99
18	6973048	A	C	18	6973049	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.81532097565074E-4	0.022
18	6973048	A	G	18	6973049	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97954382137312E-4	0.036
18	6973048	A	T	18	6973049	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.98055370675125E-4	0.034
18	6973049	A	C	18	6973050	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00253925352574168	0.004
18	6973049	A	G	18	6973050	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00396235492206331	0.006
18	6973049	A	T	18	6973050	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00664149974646461	0.01
18	6973050	T	A	18	6973051	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.59551896709084E-5	0.0
18	6973050	T	C	18	6973051	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.92701695459883E-5	0.0
18	6973050	T	G	18	6973051	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45349144890975E-4	0.016
18	6973051	G	A	18	6973052	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.09173170755968E-4	0.0
18	6973051	G	C	18	6973052	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.54139745956208E-4	0.0
18	6973051	G	T	18	6973052	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.63569989050517E-5	0.004
18	6973052	T	A	18	6973053	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.340543056404167	0.362
18	6973052	T	C	18	6973053	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.367221679443545	0.388
18	6973052	T	G	18	6973053	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0461799472122598	0.278
18	6973053	T	A	18	6973054	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999854666011186	0.942
18	6973053	T	C	18	6973054	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994909292872671	0.832
18	6973053	T	G	18	6973054	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999867324520218	0.956
18	6973054	A	C	18	6973055	y	y	splicing	LAMA1(NM_005559:exon48:c.6774+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6774+2T>G)	.	.	0.99994568797423	0.948
18	6973054	A	G	18	6973055	y	y	splicing	LAMA1(NM_005559:exon48:c.6774+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6774+2T>C)	.	.	0.961316586553648	0.698
18	6973054	A	T	18	6973055	y	y	splicing	LAMA1(NM_005559:exon48:c.6774+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6774+2T>A)	.	.	0.99994568797423	0.944
18	6973055	C	A	18	6973056	y	y	splicing	LAMA1(NM_005559:exon48:c.6774+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6774+1G>T)	.	.	0.99995545544995	0.934
18	6973055	C	G	18	6973056	y	y	splicing	LAMA1(NM_005559:exon48:c.6774+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6774+1G>C)	.	.	0.99995545544995	0.938
18	6973055	C	T	18	6973056	y	y	splicing	LAMA1(NM_005559:exon48:c.6774+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6774+1G>A)	.	.	0.99995545544995	0.934
18	6973056	C	A	18	6973057	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.G6774T:p.K2258N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.G6774T:p.K2258N;	0.999991117028505	1.0
18	6973056	C	G	18	6973057	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.G6774C:p.K2258N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.G6774C:p.K2258N;	0.999997758162875	1.0
18	6973056	C	T	18	6973057	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon47:c.G6774A:p.K2258K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.G6774A:p.K2258K;	0.999964140234419	0.99
18	6973057	T	A	18	6973058	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.A6773T:p.K2258M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.A6773T:p.K2258M;	0.999923612741946	0.988
18	6973057	T	C	18	6973058	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.A6773G:p.K2258R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.A6773G:p.K2258R;	0.999873657141024	0.992
18	6973057	T	G	18	6973058	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.A6773C:p.K2258T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.A6773C:p.K2258T;	0.999231128377438	0.964
18	6973058	T	A	18	6973059	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon47:c.A6772T:p.K2258X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon47:c.A6772T:p.K2258X;	0.998263120008778	0.836
18	6973058	T	C	18	6973059	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.A6772G:p.K2258E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.A6772G:p.K2258E;	0.5055925873807	0.512
18	6973058	T	G	18	6973059	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.A6772C:p.K2258Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.A6772C:p.K2258Q;	0.901341029882093	0.774
18	6973205	A	C	18	6973206	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.T6625G:p.F2209V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.T6625G:p.F2209V;	0.0157879229793716	0.2
18	6973205	A	G	18	6973206	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.T6625C:p.F2209L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.T6625C:p.F2209L;	0.0823301716327208	0.178
18	6973205	A	T	18	6973206	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.T6625A:p.F2209I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.T6625A:p.F2209I;	0.0699922579177077	0.198
18	6973206	T	A	18	6973207	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.A6624T:p.R2208S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.A6624T:p.R2208S;	0.0011063407771222	0.324
18	6973206	T	C	18	6973207	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon47:c.A6624G:p.R2208R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.A6624G:p.R2208R;	4.1918105340119E-5	0.038
18	6973206	T	G	18	6973207	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon47:c.A6624C:p.R2208S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon47:c.A6624C:p.R2208S;	0.00149769348175232	0.338
18	6973207	C	A	18	6973208	y	y	splicing	LAMA1(NM_005559:exon48:c.6624-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6624-1G>T)	.	.	0.999989125585301	0.944
18	6973207	C	G	18	6973208	y	y	splicing	LAMA1(NM_005559:exon48:c.6624-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6624-1G>C)	.	.	0.999989125585301	0.944
18	6973207	C	T	18	6973208	y	y	splicing	LAMA1(NM_005559:exon48:c.6624-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6624-1G>A)	.	.	0.999989125585301	0.944
18	6973208	T	A	18	6973209	y	y	splicing	LAMA1(NM_005559:exon48:c.6624-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6624-2A>T)	.	.	0.999986741007567	0.946
18	6973208	T	C	18	6973209	y	y	splicing	LAMA1(NM_005559:exon48:c.6624-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6624-2A>G)	.	.	0.999986741007567	0.946
18	6973208	T	G	18	6973209	y	y	splicing	LAMA1(NM_005559:exon48:c.6624-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon48:c.6624-2A>C)	.	.	0.999986741007567	0.946
18	6973209	A	C	18	6973210	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995996731174016	0.758
18	6973209	A	G	18	6973210	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.61261679748355E-5	0.0
18	6973209	A	T	18	6973210	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.748532892493994	0.516
18	6973210	A	C	18	6973211	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.47991257126136E-4	0.124
18	6973210	A	G	18	6973211	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.31482086540627E-5	0.076
18	6973210	A	T	18	6973211	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45525162394111E-4	0.034
18	6973211	G	A	18	6973212	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.12607174350306E-5	0.0
18	6973211	G	C	18	6973212	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0503864164946275	0.21
18	6973211	G	T	18	6973212	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0268259898754375	0.206
18	6973212	G	A	18	6973213	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.37464499639488E-5	0.032
18	6973212	G	C	18	6973213	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.279605301300566	0.486
18	6973212	G	T	18	6973213	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.299497764400033	0.468
18	6973213	G	A	18	6973214	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.04298203451352E-5	0.052
18	6973213	G	C	18	6973214	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999944861533755	0.964
18	6973213	G	T	18	6973214	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00165858765111823	0.244
18	6973214	T	A	18	6973215	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.77590605653286E-5	0.07
18	6973214	T	C	18	6973215	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998392083702684	0.91
18	6973214	T	G	18	6973215	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.01649406588312E-5	0.05
18	6973215	T	A	18	6973216	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.29125348303961E-4	0.364
18	6973215	T	C	18	6973216	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00132223109434106	0.224
18	6973215	T	G	18	6973216	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.95164204604148E-4	0.34
18	6973216	A	C	18	6973217	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999381258051993	0.89
18	6973216	A	G	18	6973217	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.204947403526292	0.468
18	6973216	A	T	18	6973217	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999150111608631	0.886
18	6973217	C	A	18	6973218	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00147838911941395	0.408
18	6973217	C	G	18	6973218	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.1147814973519E-4	0.32
18	6973217	C	T	18	6973218	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00308528050465464	0.308
18	6973218	A	C	18	6973219	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.983062169480681	0.762
18	6973218	A	G	18	6973219	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0220224533041092	0.264
18	6973218	A	T	18	6973219	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999974134254124	0.936
18	6974894	T	A	18	6974895	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00141459601123447	0.002
18	6974894	T	C	18	6974895	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.7861344760824E-4	0.002
18	6974894	T	G	18	6974895	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.49511238916389E-4	0.002
18	6974895	C	A	18	6974896	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.62172245176875E-5	0.002
18	6974895	C	G	18	6974896	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.62780085165297E-5	0.0
18	6974895	C	T	18	6974896	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.25356478996794E-5	0.0
18	6974896	T	A	18	6974897	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36804973448639E-4	0.082
18	6974896	T	C	18	6974897	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.1592673497459E-4	0.0
18	6974896	T	G	18	6974897	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.905004443308E-4	0.042
18	6974897	T	A	18	6974898	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.78258219479739E-5	0.02
18	6974897	T	C	18	6974898	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.13260395371528E-5	0.042
18	6974897	T	G	18	6974898	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.97790571309609E-5	0.022
18	6974898	C	A	18	6974899	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.45035282695868E-5	0.0
18	6974898	C	G	18	6974899	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.88594680916414E-5	0.002
18	6974898	C	T	18	6974899	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.36527852114982E-5	0.016
18	6974899	T	A	18	6974900	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999799741107146	0.886
18	6974899	T	C	18	6974900	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.948789307589998	0.666
18	6974899	T	G	18	6974900	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999808301153368	0.848
18	6974900	A	C	18	6974901	y	y	splicing	LAMA1(NM_005559:exon47:c.6623+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6623+2T>G)	.	.	0.999964896440643	0.922
18	6974900	A	G	18	6974901	y	y	splicing	LAMA1(NM_005559:exon47:c.6623+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6623+2T>C)	.	.	0.98429152237635	0.608
18	6974900	A	T	18	6974901	y	y	splicing	LAMA1(NM_005559:exon47:c.6623+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6623+2T>A)	.	.	0.999946188727699	0.922
18	6974901	C	A	18	6974902	y	y	splicing	LAMA1(NM_005559:exon47:c.6623+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6623+1G>T)	.	.	0.999933757597683	0.916
18	6974901	C	G	18	6974902	y	y	splicing	LAMA1(NM_005559:exon47:c.6623+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6623+1G>C)	.	.	0.999933757597683	0.93
18	6974901	C	T	18	6974902	y	y	splicing	LAMA1(NM_005559:exon47:c.6623+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6623+1G>A)	.	.	0.999933757597683	0.936
18	6974902	C	A	18	6974903	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.G6623T:p.R2208I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.G6623T:p.R2208I;	0.999991945276243	0.97
18	6974902	C	G	18	6974903	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.G6623C:p.R2208T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.G6623C:p.R2208T;	0.999997424211608	1.0
18	6974902	C	T	18	6974903	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.G6623A:p.R2208K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.G6623A:p.R2208K;	0.9999911970952	0.982
18	6974903	T	A	18	6974904	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon46:c.A6622T:p.R2208X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon46:c.A6622T:p.R2208X;	0.999983680529878	0.998
18	6974903	T	C	18	6974904	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.A6622G:p.R2208G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.A6622G:p.R2208G;	0.999809940945647	0.994
18	6974903	T	G	18	6974904	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon46:c.A6622C:p.R2208R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.A6622C:p.R2208R;	0.99721714384018	0.922
18	6974904	G	A	18	6974905	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon46:c.C6621T:p.A2207A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.C6621T:p.A2207A;	0.98862940447566	0.694
18	6974904	G	C	18	6974905	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon46:c.C6621G:p.A2207A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.C6621G:p.A2207A;	0.0299093155329768	0.396
18	6974904	G	T	18	6974905	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon46:c.C6621A:p.A2207A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.C6621A:p.A2207A;	0.00316496682163617	0.15
18	6975034	G	A	18	6975035	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.C6491T:p.S2164F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.C6491T:p.S2164F;	0.00708583652091007	0.14
18	6975034	G	C	18	6975035	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.C6491G:p.S2164C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.C6491G:p.S2164C;	0.0495849648805516	0.338
18	6975034	G	T	18	6975035	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.C6491A:p.S2164Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.C6491A:p.S2164Y;	0.0570549716345801	0.264
18	6975035	A	C	18	6975036	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.T6490G:p.S2164A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.T6490G:p.S2164A;	8.69290823912532E-5	0.072
18	6975035	A	G	18	6975036	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.T6490C:p.S2164P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.T6490C:p.S2164P;	2.75123108096086E-4	0.056
18	6975035	A	T	18	6975036	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon46:c.T6490A:p.S2164T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon46:c.T6490A:p.S2164T;	1.58008188215659E-5	0.004
18	6975036	C	A	18	6975037	y	y	splicing	LAMA1(NM_005559:exon47:c.6490-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6490-1G>T)	.	.	0.999983677848485	0.94
18	6975036	C	G	18	6975037	y	y	splicing	LAMA1(NM_005559:exon47:c.6490-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6490-1G>C)	.	.	0.999983677848485	0.94
18	6975036	C	T	18	6975037	y	y	splicing	LAMA1(NM_005559:exon47:c.6490-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6490-1G>A)	.	.	0.999983677848485	0.94
18	6975037	T	A	18	6975038	y	y	splicing	LAMA1(NM_005559:exon47:c.6490-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6490-2A>T)	.	.	0.999986741007567	0.94
18	6975037	T	C	18	6975038	y	y	splicing	LAMA1(NM_005559:exon47:c.6490-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6490-2A>G)	.	.	0.999986741007567	0.94
18	6975037	T	G	18	6975038	y	y	splicing	LAMA1(NM_005559:exon47:c.6490-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon47:c.6490-2A>C)	.	.	0.999986741007567	0.94
18	6975038	G	A	18	6975039	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.1731391635933E-4	0.208
18	6975038	G	C	18	6975039	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999639767968654	0.798
18	6975038	G	T	18	6975039	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992609475482481	0.838
18	6975039	G	A	18	6975040	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.4296603021387E-5	0.012
18	6975039	G	C	18	6975040	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.54392938115112E-5	0.03
18	6975039	G	T	18	6975040	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.37421263055182E-5	0.012
18	6975040	G	A	18	6975041	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15513247116411E-4	0.016
18	6975040	G	C	18	6975041	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.9953245203048E-4	0.138
18	6975040	G	T	18	6975041	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00163900569999274	0.114
18	6975041	G	A	18	6975042	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.81475263484096E-5	0.032
18	6975041	G	C	18	6975042	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00489023763777079	0.248
18	6975041	G	T	18	6975042	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00837168694541666	0.234
18	6975042	G	A	18	6975043	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.038657409998E-5	0.0
18	6975042	G	C	18	6975043	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.52679865352765E-4	0.134
18	6975042	G	T	18	6975043	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.69880680551712E-4	0.136
18	6975043	G	A	18	6975044	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.81588312705537E-5	0.012
18	6975043	G	C	18	6975044	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.87216588125559E-4	0.06
18	6975043	G	T	18	6975044	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.18441664593538E-4	0.044
18	6975044	C	A	18	6975045	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.4437471435641E-5	0.002
18	6975044	C	G	18	6975045	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.24820902241007E-5	0.0
18	6975044	C	T	18	6975045	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.11887206535936E-4	0.01
18	6975045	G	A	18	6975046	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.95048459408849E-5	0.002
18	6975045	G	C	18	6975046	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.28122582810829E-4	0.036
18	6975045	G	T	18	6975046	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997299388167616	0.88
18	6975046	A	C	18	6975047	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00644450234932906	0.18
18	6975046	A	G	18	6975047	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00114493559520963	0.054
18	6975046	A	T	18	6975047	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0259366472735039	0.26
18	6975047	G	A	18	6975048	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.39348144922977E-5	0.008
18	6975047	G	C	18	6975048	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.44250338425217E-4	0.082
18	6975047	G	T	18	6975048	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.59116845528743E-4	0.096
18	6975928	T	A	18	6975929	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.46535800631387E-5	0.0
18	6975928	T	C	18	6975929	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.65611893288247E-5	0.0
18	6975928	T	G	18	6975929	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.16370123119142E-5	0.0
18	6975929	A	C	18	6975930	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.08734463344448E-5	0.002
18	6975929	A	G	18	6975930	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.48038318268713E-5	0.004
18	6975929	A	T	18	6975930	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.35742528121053E-4	0.0
18	6975930	A	C	18	6975931	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.984522748570086	0.75
18	6975930	A	G	18	6975931	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.990204351060354	0.782
18	6975930	A	T	18	6975931	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.984735175606153	0.712
18	6975931	C	A	18	6975932	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99999346025844	0.994
18	6975931	C	G	18	6975932	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.9999941928248	0.936
18	6975931	C	T	18	6975932	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99998366351557	0.994
18	6975932	T	A	18	6975933	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.987312802917882	0.836
18	6975932	T	C	18	6975933	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992165036009112	0.864
18	6975932	T	G	18	6975933	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.974262347024068	0.736
18	6975933	T	A	18	6975934	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999717623774128	0.888
18	6975933	T	C	18	6975934	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00532192381890336	0.196
18	6975933	T	G	18	6975934	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999679883237636	0.9
18	6975934	A	C	18	6975935	y	y	splicing	LAMA1(NM_005559:exon46:c.6489+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6489+2T>G)	.	.	0.999964896440643	0.936
18	6975934	A	G	18	6975935	y	y	splicing	LAMA1(NM_005559:exon46:c.6489+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6489+2T>C)	.	.	0.98373439918974	0.664
18	6975934	A	T	18	6975935	y	y	splicing	LAMA1(NM_005559:exon46:c.6489+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6489+2T>A)	.	.	0.999946188727699	0.944
18	6975935	C	A	18	6975936	y	y	splicing	LAMA1(NM_005559:exon46:c.6489+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6489+1G>T)	.	.	0.99995586615188	0.94
18	6975935	C	G	18	6975936	y	y	splicing	LAMA1(NM_005559:exon46:c.6489+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6489+1G>C)	.	.	0.99995586615188	0.94
18	6975935	C	T	18	6975936	y	y	splicing	LAMA1(NM_005559:exon46:c.6489+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6489+1G>A)	.	.	0.99995586615188	0.948
18	6975936	A	C	18	6975937	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon45:c.T6489G:p.A2163A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.T6489G:p.A2163A;	8.86996583627329E-5	0.06
18	6975936	A	G	18	6975937	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon45:c.T6489C:p.A2163A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.T6489C:p.A2163A;	3.81660855860255E-5	0.026
18	6975936	A	T	18	6975937	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon45:c.T6489A:p.A2163A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.T6489A:p.A2163A;	3.4736069265614E-5	0.11
18	6975937	G	A	18	6975938	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.C6488T:p.A2163V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.C6488T:p.A2163V;	3.74015483914212E-5	0.012
18	6975937	G	C	18	6975938	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.C6488G:p.A2163G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.C6488G:p.A2163G;	1.22869990031051E-5	0.004
18	6975937	G	T	18	6975938	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.C6488A:p.A2163D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.C6488A:p.A2163D;	2.00319697404872E-5	0.048
18	6975938	C	A	18	6975939	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.G6487T:p.A2163S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.G6487T:p.A2163S;	1.27886128221921E-4	0.016
18	6975938	C	G	18	6975939	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.G6487C:p.A2163P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.G6487C:p.A2163P;	2.44026245217619E-5	0.11
18	6975938	C	T	18	6975939	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.G6487A:p.A2163T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.G6487A:p.A2163T;	2.14264622132586E-5	0.074
18	6976078	A	C	18	6976079	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.T6347G:p.I2116S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.T6347G:p.I2116S;	0.517466451324659	0.62
18	6976078	A	G	18	6976079	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.T6347C:p.I2116T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.T6347C:p.I2116T;	0.530319648783972	0.606
18	6976078	A	T	18	6976079	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.T6347A:p.I2116N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.T6347A:p.I2116N;	0.426386009081618	0.566
18	6976079	T	A	18	6976080	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.A6346T:p.I2116F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.A6346T:p.I2116F;	0.608892155853455	0.618
18	6976079	T	C	18	6976080	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.A6346G:p.I2116V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.A6346G:p.I2116V;	0.711782869828115	0.712
18	6976079	T	G	18	6976080	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon45:c.A6346C:p.I2116L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon45:c.A6346C:p.I2116L;	0.674655119104787	0.74
18	6976080	C	A	18	6976081	y	y	splicing	LAMA1(NM_005559:exon46:c.6346-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6346-1G>T)	.	.	0.999990361384395	0.938
18	6976080	C	G	18	6976081	y	y	splicing	LAMA1(NM_005559:exon46:c.6346-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6346-1G>C)	.	.	0.999990361384395	0.938
18	6976080	C	T	18	6976081	y	y	splicing	LAMA1(NM_005559:exon46:c.6346-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6346-1G>A)	.	.	0.999990361384395	0.938
18	6976081	T	A	18	6976082	y	y	splicing	LAMA1(NM_005559:exon46:c.6346-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6346-2A>T)	.	.	0.999988247793601	0.93
18	6976081	T	C	18	6976082	y	y	splicing	LAMA1(NM_005559:exon46:c.6346-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6346-2A>G)	.	.	0.999988247793601	0.93
18	6976081	T	G	18	6976082	y	y	splicing	LAMA1(NM_005559:exon46:c.6346-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon46:c.6346-2A>C)	.	.	0.999988247793601	0.93
18	6976082	G	A	18	6976083	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.089805094126476	0.414
18	6976082	G	C	18	6976083	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999910795358531	0.92
18	6976082	G	T	18	6976083	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.921064408755456	0.688
18	6976083	T	A	18	6976084	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.09749026451359E-4	0.002
18	6976083	T	C	18	6976084	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.52137170991814E-4	0.002
18	6976083	T	G	18	6976084	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.96359522785322E-5	0.004
18	6976084	A	C	18	6976085	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.58007820546007E-4	0.112
18	6976084	A	G	18	6976085	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.85504519968772E-4	0.016
18	6976084	A	T	18	6976085	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.18000192665731E-4	0.13
18	6976085	G	A	18	6976086	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.90598916040745E-5	0.038
18	6976085	G	C	18	6976086	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.43764822503642E-4	0.062
18	6976085	G	T	18	6976086	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.21843071512623E-4	0.074
18	6976086	A	C	18	6976087	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.07057514407715E-4	0.096
18	6976086	A	G	18	6976087	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.24057452736132E-5	0.004
18	6976086	A	T	18	6976087	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.92027618490362E-4	0.072
18	6976087	A	C	18	6976088	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.14066991061293E-4	0.016
18	6976087	A	G	18	6976088	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.93512894653399E-5	0.0
18	6976087	A	T	18	6976088	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.51776357711733E-4	0.01
18	6976088	G	A	18	6976089	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.697587162496E-5	0.002
18	6976088	G	C	18	6976089	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.03933833731672E-4	0.002
18	6976088	G	T	18	6976089	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26628217445981E-4	0.002
18	6976089	G	A	18	6976090	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97459236310316E-5	0.0
18	6976089	G	C	18	6976090	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.25410348287651E-5	0.008
18	6976089	G	T	18	6976090	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.82615556235844E-5	0.014
18	6976090	A	C	18	6976091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00464069365452619	0.184
18	6976090	A	G	18	6976091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00646590896399313	0.03
18	6976090	A	T	18	6976091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0128604082747082	0.234
18	6976091	A	C	18	6976092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.17203253255678E-4	0.078
18	6976091	A	G	18	6976092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.1115047718442E-4	0.012
18	6976091	A	T	18	6976092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.749772060347E-4	0.14
18	6977718	A	C	18	6977719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.59328898971895E-4	0.014
18	6977718	A	G	18	6977719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.61194778857493E-4	0.002
18	6977718	A	T	18	6977719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.04962636660512E-4	0.0
18	6977719	A	C	18	6977720	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.63128040426845E-4	0.01
18	6977719	A	G	18	6977720	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.63128040426845E-4	0.006
18	6977719	A	T	18	6977720	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.67657803769578E-4	0.006
18	6977720	A	C	18	6977721	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998087871663512	0.902
18	6977720	A	G	18	6977721	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998709841155089	0.952
18	6977720	A	T	18	6977721	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999542445474794	0.836
18	6977721	C	A	18	6977722	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999816300507103	0.942
18	6977721	C	G	18	6977722	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999868206617924	0.992
18	6977721	C	T	18	6977722	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999816300507103	1.0
18	6977722	T	A	18	6977723	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999979803971727	0.926
18	6977722	T	C	18	6977723	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999951089558247	0.966
18	6977722	T	G	18	6977723	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999951562337525	0.938
18	6977723	C	A	18	6977724	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99953677819661	0.838
18	6977723	C	G	18	6977724	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999405351441455	0.842
18	6977723	C	T	18	6977724	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.02829031441641E-4	0.03
18	6977724	A	C	18	6977725	y	y	splicing	LAMA1(NM_005559:exon45:c.6345+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6345+2T>G)	.	.	0.999988624979899	0.944
18	6977724	A	G	18	6977725	y	y	splicing	LAMA1(NM_005559:exon45:c.6345+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6345+2T>C)	.	.	0.999988386900436	0.952
18	6977724	A	T	18	6977725	y	y	splicing	LAMA1(NM_005559:exon45:c.6345+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6345+2T>A)	.	.	0.999988624979899	0.944
18	6977725	C	A	18	6977726	y	y	splicing	LAMA1(NM_005559:exon45:c.6345+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6345+1G>T)	.	.	0.999979422316293	0.944
18	6977725	C	G	18	6977726	y	y	splicing	LAMA1(NM_005559:exon45:c.6345+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6345+1G>C)	.	.	0.999979422316293	0.944
18	6977725	C	T	18	6977726	y	y	splicing	LAMA1(NM_005559:exon45:c.6345+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6345+1G>A)	.	.	0.999979422316293	0.944
18	6977726	A	C	18	6977727	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon44:c.T6345G:p.S2115S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6345G:p.S2115S;	3.90840952088719E-4	0.074
18	6977726	A	G	18	6977727	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon44:c.T6345C:p.S2115S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6345C:p.S2115S;	0.00142993601119576	0.382
18	6977726	A	T	18	6977727	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon44:c.T6345A:p.S2115S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6345A:p.S2115S;	1.34172424078631E-4	0.016
18	6977727	G	A	18	6977728	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.C6344T:p.S2115F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.C6344T:p.S2115F;	0.997482795675747	0.834
18	6977727	G	C	18	6977728	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.C6344G:p.S2115C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.C6344G:p.S2115C;	0.99280875094806	0.766
18	6977727	G	T	18	6977728	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.C6344A:p.S2115Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.C6344A:p.S2115Y;	0.947975025240225	0.648
18	6977728	A	C	18	6977729	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.T6343G:p.S2115A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6343G:p.S2115A;	0.527279835219812	0.646
18	6977728	A	G	18	6977729	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.T6343C:p.S2115P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6343C:p.S2115P;	0.548453520797932	0.604
18	6977728	A	T	18	6977729	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.T6343A:p.S2115T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6343A:p.S2115T;	0.519559289804093	0.642
18	6977879	A	C	18	6977880	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon44:c.T6192G:p.T2064T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6192G:p.T2064T;	0.00688356215129412	0.124
18	6977879	A	G	18	6977880	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon44:c.T6192C:p.T2064T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6192C:p.T2064T;	0.038213216584949	0.138
18	6977879	A	T	18	6977880	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon44:c.T6192A:p.T2064T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.T6192A:p.T2064T;	0.00993331464686559	0.092
18	6977880	G	A	18	6977881	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.C6191T:p.T2064I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.C6191T:p.T2064I;	0.0696382325462894	0.314
18	6977880	G	C	18	6977881	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.C6191G:p.T2064S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.C6191G:p.T2064S;	0.00150785429541127	0.078
18	6977880	G	T	18	6977881	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon44:c.C6191A:p.T2064N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon44:c.C6191A:p.T2064N;	0.914284010453428	0.658
18	6977881	C	A	18	6977882	y	y	splicing	LAMA1(NM_005559:exon45:c.6191-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6191-1G>T)	.	.	0.999981760802075	0.944
18	6977881	C	G	18	6977882	y	y	splicing	LAMA1(NM_005559:exon45:c.6191-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6191-1G>C)	.	.	0.999981760802075	0.944
18	6977881	C	T	18	6977882	y	y	splicing	LAMA1(NM_005559:exon45:c.6191-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6191-1G>A)	.	.	0.999981760802075	0.944
18	6977882	T	A	18	6977883	y	y	splicing	LAMA1(NM_005559:exon45:c.6191-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6191-2A>T)	.	.	0.999989917668626	0.942
18	6977882	T	C	18	6977883	y	y	splicing	LAMA1(NM_005559:exon45:c.6191-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6191-2A>G)	.	.	0.999989917668626	0.942
18	6977882	T	G	18	6977883	y	y	splicing	LAMA1(NM_005559:exon45:c.6191-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon45:c.6191-2A>C)	.	.	0.999989917668626	0.942
18	6977883	A	C	18	6977884	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995556731795382	0.702
18	6977883	A	G	18	6977884	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.90600768036372E-5	0.044
18	6977883	A	T	18	6977884	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0460357982303398	0.302
18	6977884	A	C	18	6977885	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.09017334060842E-4	0.078
18	6977884	A	G	18	6977885	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.81582186497749E-5	0.0
18	6977884	A	T	18	6977885	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.57810266929126E-5	0.01
18	6977885	C	A	18	6977886	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.19888029072431E-4	0.016
18	6977885	C	G	18	6977886	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.51470157684657E-5	0.004
18	6977885	C	T	18	6977886	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.26432452388743E-5	0.006
18	6977886	A	C	18	6977887	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0190601649948826	0.308
18	6977886	A	G	18	6977887	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.23697940527049E-4	0.074
18	6977886	A	T	18	6977887	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999110099695426	0.952
18	6977887	A	C	18	6977888	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.004134516858133	0.144
18	6977887	A	G	18	6977888	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.96081047988152E-4	0.102
18	6977887	A	T	18	6977888	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.011370538542717	0.122
18	6977888	A	C	18	6977889	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999933619781345	1.0
18	6977888	A	G	18	6977889	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.15911773019632E-4	0.004
18	6977888	A	T	18	6977889	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0193111644525385	0.326
18	6977889	T	A	18	6977890	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.91157645574935E-5	0.004
18	6977889	T	C	18	6977890	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.19869400868687E-5	0.028
18	6977889	T	G	18	6977890	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.12278965792014E-5	0.002
18	6977890	A	C	18	6977891	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.157383157533962	0.328
18	6977890	A	G	18	6977891	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.05893371775766E-4	0.056
18	6977890	A	T	18	6977891	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.153166872082802	0.358
18	6977891	C	A	18	6977892	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.18596602772033E-5	0.04
18	6977891	C	G	18	6977892	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.5416267496394E-5	0.012
18	6977891	C	T	18	6977892	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.3064789710145E-4	0.06
18	6977892	A	C	18	6977893	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0128541646479461	0.396
18	6977892	A	G	18	6977893	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.94601998536779E-4	0.126
18	6977892	A	T	18	6977893	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999965217973864	0.952
18	6978187	T	A	18	6978188	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.92387373839377E-5	0.0
18	6978187	T	C	18	6978188	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.19591601294492E-5	0.0
18	6978187	T	G	18	6978188	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.81428041929281E-5	0.0
18	6978188	G	A	18	6978189	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10978361637732E-4	0.052
18	6978188	G	C	18	6978189	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.7539928048146E-5	0.036
18	6978188	G	T	18	6978189	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.79125657459532E-4	0.03
18	6978189	A	C	18	6978190	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.946383742428184	0.662
18	6978189	A	G	18	6978190	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.957158543432234	0.738
18	6978189	A	T	18	6978190	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.953011270552261	0.706
18	6978190	C	A	18	6978191	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999987347787269	0.978
18	6978190	C	G	18	6978191	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999987347787269	0.996
18	6978190	C	T	18	6978191	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999978807465978	0.96
18	6978191	A	C	18	6978192	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.8545955511531E-5	0.05
18	6978191	A	G	18	6978192	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.1728857408361E-5	0.008
18	6978191	A	T	18	6978192	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.07870137524704E-5	0.024
18	6978192	T	A	18	6978193	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999633737493344	0.828
18	6978192	T	C	18	6978193	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.984045928709202	0.748
18	6978192	T	G	18	6978193	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99926740593076	0.834
18	6978193	A	C	18	6978194	y	y	splicing	LAMA1(NM_005559:exon44:c.6190+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6190+2T>G)	.	.	0.999965995344028	0.954
18	6978193	A	G	18	6978194	y	y	splicing	LAMA1(NM_005559:exon44:c.6190+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6190+2T>C)	.	.	0.986856593358309	0.766
18	6978193	A	T	18	6978194	y	y	splicing	LAMA1(NM_005559:exon44:c.6190+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6190+2T>A)	.	.	0.999965678899366	0.95
18	6978194	C	A	18	6978195	y	y	splicing	LAMA1(NM_005559:exon44:c.6190+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6190+1G>T)	.	.	0.999971851307944	0.94
18	6978194	C	G	18	6978195	y	y	splicing	LAMA1(NM_005559:exon44:c.6190+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6190+1G>C)	.	.	0.999972110843846	0.942
18	6978194	C	T	18	6978195	y	y	splicing	LAMA1(NM_005559:exon44:c.6190+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6190+1G>A)	.	.	0.999971851307944	0.94
18	6978195	T	A	18	6978196	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.A6190T:p.T2064S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.A6190T:p.T2064S;	0.00156716023746004	0.048
18	6978195	T	C	18	6978196	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.A6190G:p.T2064A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.A6190G:p.T2064A;	2.44132707977735E-4	0.204
18	6978195	T	G	18	6978196	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.A6190C:p.T2064P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.A6190C:p.T2064P;	0.00796984639345742	0.232
18	6978196	G	A	18	6978197	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon43:c.C6189T:p.A2063A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.C6189T:p.A2063A;	0.00219507788800166	0.11
18	6978196	G	C	18	6978197	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon43:c.C6189G:p.A2063A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.C6189G:p.A2063A;	1.18457227833106E-4	0.07
18	6978196	G	T	18	6978197	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon43:c.C6189A:p.A2063A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.C6189A:p.A2063A;	9.00255296377451E-4	0.21
18	6978197	G	A	18	6978198	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.C6188T:p.A2063V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.C6188T:p.A2063V;	0.916439572056557	0.762
18	6978197	G	C	18	6978198	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.C6188G:p.A2063G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.C6188G:p.A2063G;	0.373675839998533	0.382
18	6978197	G	T	18	6978198	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.C6188A:p.A2063D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.C6188A:p.A2063D;	0.119773105862882	0.366
18	6978376	A	C	18	6978377	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon43:c.T6009G:p.G2003G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.T6009G:p.G2003G;	0.00114721918086372	0.084
18	6978376	A	G	18	6978377	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon43:c.T6009C:p.G2003G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.T6009C:p.G2003G;	5.76918311814683E-4	0.072
18	6978376	A	T	18	6978377	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon43:c.T6009A:p.G2003G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.T6009A:p.G2003G;	6.77069617734919E-4	0.092
18	6978377	C	A	18	6978378	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.G6008T:p.G2003V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.G6008T:p.G2003V;	0.527687403042831	0.404
18	6978377	C	G	18	6978378	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.G6008C:p.G2003A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.G6008C:p.G2003A;	0.053700203372289	0.272
18	6978377	C	T	18	6978378	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon43:c.G6008A:p.G2003D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon43:c.G6008A:p.G2003D;	0.00198220832462965	0.148
18	6978378	C	A	18	6978379	y	y	splicing	LAMA1(NM_005559:exon44:c.6008-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6008-1G>T)	.	.	0.999956785519844	0.884
18	6978378	C	G	18	6978379	y	y	splicing	LAMA1(NM_005559:exon44:c.6008-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6008-1G>C)	.	.	0.999952286258862	0.878
18	6978378	C	T	18	6978379	y	y	splicing	LAMA1(NM_005559:exon44:c.6008-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6008-1G>A)	.	.	0.999956785519844	0.866
18	6978379	T	A	18	6978380	y	y	splicing	LAMA1(NM_005559:exon44:c.6008-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6008-2A>T)	.	.	0.999972155025474	0.868
18	6978379	T	C	18	6978380	y	y	splicing	LAMA1(NM_005559:exon44:c.6008-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6008-2A>G)	.	.	0.999969255906173	0.85
18	6978379	T	G	18	6978380	y	y	splicing	LAMA1(NM_005559:exon44:c.6008-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon44:c.6008-2A>C)	.	.	0.999969255906173	0.84
18	6978380	A	C	18	6978381	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.764204127202422	0.64
18	6978380	A	G	18	6978381	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.90477876612652E-5	0.0
18	6978380	A	T	18	6978381	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.5713685971174E-4	0.122
18	6978381	A	C	18	6978382	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.28438782036637E-4	0.118
18	6978381	A	G	18	6978382	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.90138633564686E-5	0.002
18	6978381	A	T	18	6978382	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.45397441377932E-5	0.058
18	6978382	A	C	18	6978383	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.709091699098603	0.446
18	6978382	A	G	18	6978383	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00334234556958002	0.128
18	6978382	A	T	18	6978383	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.792604002263047	0.458
18	6978383	A	C	18	6978384	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99965590225999	0.952
18	6978383	A	G	18	6978384	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.47500599550479E-4	0.044
18	6978383	A	T	18	6978384	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.236174893733407	0.438
18	6978384	T	A	18	6978385	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.9880215975067E-5	0.002
18	6978384	T	C	18	6978385	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.30268372937575E-5	0.018
18	6978384	T	G	18	6978385	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.44038331985221E-5	0.014
18	6978385	A	C	18	6978386	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00294442803975224	0.31
18	6978385	A	G	18	6978386	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.28179068025911E-5	0.008
18	6978385	A	T	18	6978386	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00232133859928293	0.212
18	6978386	A	C	18	6978387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00726905194361752	0.34
18	6978386	A	G	18	6978387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.03835835096489E-5	0.012
18	6978386	A	T	18	6978387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00359036371102983	0.358
18	6978387	A	C	18	6978388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999972953624274	0.958
18	6978387	A	G	18	6978388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.84508647668586E-4	0.088
18	6978387	A	T	18	6978388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.292623855288341	0.526
18	6978388	T	A	18	6978389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.67715544830552E-4	0.148
18	6978388	T	C	18	6978389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.03506302828139E-5	0.0
18	6978388	T	G	18	6978389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.07223391688966E-4	0.0
18	6978389	G	A	18	6978390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.29556058669464E-6	0.02
18	6978389	G	C	18	6978390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.471831532391909	0.394
18	6978389	G	T	18	6978390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.92906152703185E-5	0.006
18	6980512	C	A	18	6980513	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.93972165730067E-5	0.0
18	6980512	C	G	18	6980513	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.93972165730067E-5	0.0
18	6980512	C	T	18	6980513	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.93972165730067E-5	0.0
18	6980513	C	A	18	6980514	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.3192233729115E-5	0.0
18	6980513	C	G	18	6980514	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.24726004821666E-5	0.004
18	6980513	C	T	18	6980514	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.41996471816303E-5	0.006
18	6980514	A	C	18	6980515	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00108661412087793	0.11
18	6980514	A	G	18	6980515	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00402520631068644	0.166
18	6980514	A	T	18	6980515	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00536693577724403	0.206
18	6980515	C	A	18	6980516	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.940272161906005	0.722
18	6980515	C	G	18	6980516	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.924047801490181	0.658
18	6980515	C	T	18	6980516	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.915298948631961	0.67
18	6980516	T	A	18	6980517	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.968181044225871	0.78
18	6980516	T	C	18	6980517	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.9394728903638	0.61
18	6980516	T	G	18	6980517	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.892002810127999	0.624
18	6980517	T	A	18	6980518	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0605293849715432	0.376
18	6980517	T	C	18	6980518	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.59833704640834E-4	0.05
18	6980517	T	G	18	6980518	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.657530387842252	0.474
18	6980518	A	C	18	6980519	y	y	splicing	LAMA1(NM_005559:exon43:c.6007+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.6007+2T>G)	.	.	0.999989917668626	0.928
18	6980518	A	G	18	6980519	y	y	splicing	LAMA1(NM_005559:exon43:c.6007+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.6007+2T>C)	.	.	0.992535761479193	0.612
18	6980518	A	T	18	6980519	y	y	splicing	LAMA1(NM_005559:exon43:c.6007+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.6007+2T>A)	.	.	0.999989917668626	0.928
18	6980519	C	A	18	6980520	y	y	splicing	LAMA1(NM_005559:exon43:c.6007+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.6007+1G>T)	.	.	0.999981760802075	0.938
18	6980519	C	G	18	6980520	y	y	splicing	LAMA1(NM_005559:exon43:c.6007+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.6007+1G>C)	.	.	0.999981760802075	0.938
18	6980519	C	T	18	6980520	y	y	splicing	LAMA1(NM_005559:exon43:c.6007+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.6007+1G>A)	.	.	0.999981760802075	0.938
18	6980520	C	A	18	6980521	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.G6007T:p.G2003C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.G6007T:p.G2003C;	0.82301992066901	0.436
18	6980520	C	G	18	6980521	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.G6007C:p.G2003R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.G6007C:p.G2003R;	0.816204784856212	0.586
18	6980520	C	T	18	6980521	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.G6007A:p.G2003S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.G6007A:p.G2003S;	0.171476426282216	0.448
18	6980521	T	A	18	6980522	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.A6006T:p.K2002N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.A6006T:p.K2002N;	0.0490895461187853	0.394
18	6980521	T	C	18	6980522	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon42:c.A6006G:p.K2002K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.A6006G:p.K2002K;	0.105852002186734	0.21
18	6980521	T	G	18	6980522	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.A6006C:p.K2002N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.A6006C:p.K2002N;	0.0310023910612129	0.374
18	6980522	T	A	18	6980523	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.A6005T:p.K2002I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.A6005T:p.K2002I;	7.32226070313082E-4	0.156
18	6980522	T	C	18	6980523	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.A6005G:p.K2002R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.A6005G:p.K2002R;	1.18246225816622E-4	0.008
18	6980522	T	G	18	6980523	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.A6005C:p.K2002T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.A6005C:p.K2002T;	9.25516450589247E-5	0.002
18	6980635	A	C	18	6980636	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon42:c.T5892G:p.G1964G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.T5892G:p.G1964G;	2.20980678262993E-4	0.028
18	6980635	A	G	18	6980636	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon42:c.T5892C:p.G1964G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.T5892C:p.G1964G;	2.01967408575149E-4	0.03
18	6980635	A	T	18	6980636	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon42:c.T5892A:p.G1964G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.T5892A:p.G1964G;	1.71480194038566E-4	0.176
18	6980636	C	A	18	6980637	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.G5891T:p.G1964V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.G5891T:p.G1964V;	0.834629942559206	0.604
18	6980636	C	G	18	6980637	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.G5891C:p.G1964A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.G5891C:p.G1964A;	0.0357664177227791	0.37
18	6980636	C	T	18	6980637	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon42:c.G5891A:p.G1964D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon42:c.G5891A:p.G1964D;	0.00514372316706894	0.104
18	6980637	C	A	18	6980638	y	y	splicing	LAMA1(NM_005559:exon43:c.5891-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.5891-1G>T)	.	.	0.999955485601963	0.908
18	6980637	C	G	18	6980638	y	y	splicing	LAMA1(NM_005559:exon43:c.5891-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.5891-1G>C)	.	.	0.999957897063701	0.896
18	6980637	C	T	18	6980638	y	y	splicing	LAMA1(NM_005559:exon43:c.5891-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.5891-1G>A)	.	.	0.999955485601963	0.91
18	6980638	T	A	18	6980639	y	y	splicing	LAMA1(NM_005559:exon43:c.5891-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.5891-2A>T)	.	.	0.999982151912279	0.89
18	6980638	T	C	18	6980639	y	y	splicing	LAMA1(NM_005559:exon43:c.5891-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.5891-2A>G)	.	.	0.999972871252391	0.874
18	6980638	T	G	18	6980639	y	y	splicing	LAMA1(NM_005559:exon43:c.5891-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon43:c.5891-2A>C)	.	.	0.999972871252391	0.874
18	6980639	A	C	18	6980640	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.981484447456595	0.724
18	6980639	A	G	18	6980640	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.95910674422999E-5	0.016
18	6980639	A	T	18	6980640	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.84785853771755E-4	0.176
18	6980640	T	A	18	6980641	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.33505909496174E-5	0.012
18	6980640	T	C	18	6980641	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.877359250089118	0.814
18	6980640	T	G	18	6980641	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.10508618975577E-6	0.0
18	6980641	T	A	18	6980642	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.30984944214761E-4	0.03
18	6980641	T	C	18	6980642	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998286634442059	0.942
18	6980641	T	G	18	6980642	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.9420667183054E-5	0.012
18	6980642	T	A	18	6980643	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.53382185270914E-5	0.002
18	6980642	T	C	18	6980643	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.64804554782034E-5	0.014
18	6980642	T	G	18	6980643	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.72892229444979E-5	0.002
18	6980643	A	C	18	6980644	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00170936440611904	0.292
18	6980643	A	G	18	6980644	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.72554714962891E-5	0.014
18	6980643	A	T	18	6980644	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00259693758377618	0.28
18	6980644	A	C	18	6980645	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0664078423838981	0.374
18	6980644	A	G	18	6980645	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.71745069382245E-4	0.056
18	6980644	A	T	18	6980645	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.460670092670777	0.402
18	6980645	A	C	18	6980646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0126007841206281	0.274
18	6980645	A	G	18	6980646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.23931013436875E-5	0.002
18	6980645	A	T	18	6980646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0167049297536325	0.288
18	6980646	G	A	18	6980647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.84825950088633E-5	0.012
18	6980646	G	C	18	6980647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.09478754047345E-5	0.038
18	6980646	G	T	18	6980647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.90450380829595E-4	0.144
18	6980647	G	A	18	6980648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.65965658795311E-5	0.0
18	6980647	G	C	18	6980648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.22428731294486E-4	0.016
18	6980647	G	T	18	6980648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.33973206463886E-4	0.002
18	6980648	G	A	18	6980649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.50714567537486E-5	0.002
18	6980648	G	C	18	6980649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.56100011645348E-4	0.036
18	6980648	G	T	18	6980649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.97187294860319E-4	0.088
18	6982488	A	C	18	6982489	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.00254316587307E-5	0.0
18	6982488	A	G	18	6982489	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.95926651422279E-5	0.0
18	6982488	A	T	18	6982489	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.0617073089448E-5	0.0
18	6982489	T	A	18	6982490	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.43308229561984E-4	0.086
18	6982489	T	C	18	6982490	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.64685171985543E-4	0.0
18	6982489	T	G	18	6982490	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.67105686806938E-5	0.0
18	6982490	A	C	18	6982491	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0179276650157229	0.086
18	6982490	A	G	18	6982491	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.011711368876106	0.084
18	6982490	A	T	18	6982491	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0132574074027768	0.074
18	6982491	C	A	18	6982492	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999752812324268	0.886
18	6982491	C	G	18	6982492	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999556821110471	0.808
18	6982491	C	T	18	6982492	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998295024970676	0.936
18	6982492	T	A	18	6982493	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.304600643149944	0.446
18	6982492	T	C	18	6982493	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0457517680611708	0.322
18	6982492	T	G	18	6982493	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.710098383232038	0.552
18	6982493	G	A	18	6982494	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.72557595422574E-5	0.0
18	6982493	G	C	18	6982494	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.18456940801702E-4	0.026
18	6982493	G	T	18	6982494	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.49188912394539E-4	0.022
18	6982494	A	C	18	6982495	y	y	splicing	LAMA1(NM_005559:exon42:c.5890+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5890+2T>G)	.	.	0.999963671976247	0.916
18	6982494	A	G	18	6982495	y	y	splicing	LAMA1(NM_005559:exon42:c.5890+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5890+2T>C)	.	.	0.970947175695068	0.618
18	6982494	A	T	18	6982495	y	y	splicing	LAMA1(NM_005559:exon42:c.5890+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5890+2T>A)	.	.	0.999964896440643	0.934
18	6982495	C	A	18	6982496	y	y	splicing	LAMA1(NM_005559:exon42:c.5890+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5890+1G>T)	.	.	0.999971209564868	0.938
18	6982495	C	G	18	6982496	y	y	splicing	LAMA1(NM_005559:exon42:c.5890+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5890+1G>C)	.	.	0.999971209564868	0.936
18	6982495	C	T	18	6982496	y	y	splicing	LAMA1(NM_005559:exon42:c.5890+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5890+1G>A)	.	.	0.999971209564868	0.938
18	6982496	C	A	18	6982497	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.G5890T:p.G1964C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.G5890T:p.G1964C;	0.999951453867308	0.974
18	6982496	C	G	18	6982497	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.G5890C:p.G1964R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.G5890C:p.G1964R;	0.99999460631573	0.986
18	6982496	C	T	18	6982497	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.G5890A:p.G1964S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.G5890A:p.G1964S;	0.999981948229325	0.996
18	6982497	T	A	18	6982498	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon41:c.A5889T:p.P1963P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.A5889T:p.P1963P;	0.631480474540182	0.58
18	6982497	T	C	18	6982498	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon41:c.A5889G:p.P1963P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.A5889G:p.P1963P;	0.715019266117983	0.532
18	6982497	T	G	18	6982498	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon41:c.A5889C:p.P1963P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.A5889C:p.P1963P;	0.362719392289365	0.564
18	6982498	G	A	18	6982499	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.C5888T:p.P1963L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.C5888T:p.P1963L;	0.00398192434502922	0.212
18	6982498	G	C	18	6982499	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.C5888G:p.P1963R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.C5888G:p.P1963R;	6.5158864116708E-5	0.002
18	6982498	G	T	18	6982499	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.C5888A:p.P1963Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.C5888A:p.P1963Q;	2.85435690095758E-5	0.01
18	6982588	A	C	18	6982589	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.T5798G:p.L1933R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.T5798G:p.L1933R;	0.00145907784512204	0.184
18	6982588	A	G	18	6982589	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.T5798C:p.L1933P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.T5798C:p.L1933P;	0.00223417559952259	0.236
18	6982588	A	T	18	6982589	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.T5798A:p.L1933H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.T5798A:p.L1933H;	0.00274804000824956	0.17
18	6982589	G	A	18	6982590	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.C5797T:p.L1933F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.C5797T:p.L1933F;	1.72482777017849E-4	0.05
18	6982589	G	C	18	6982590	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.C5797G:p.L1933V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.C5797G:p.L1933V;	6.40982231099873E-5	0.136
18	6982589	G	T	18	6982590	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon41:c.C5797A:p.L1933I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon41:c.C5797A:p.L1933I;	3.62917510043217E-5	0.042
18	6982590	C	A	18	6982591	y	y	splicing	LAMA1(NM_005559:exon42:c.5797-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5797-1G>T)	.	.	0.999990361384395	0.938
18	6982590	C	G	18	6982591	y	y	splicing	LAMA1(NM_005559:exon42:c.5797-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5797-1G>C)	.	.	0.999990361384395	0.938
18	6982590	C	T	18	6982591	y	y	splicing	LAMA1(NM_005559:exon42:c.5797-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5797-1G>A)	.	.	0.999990361384395	0.938
18	6982591	T	A	18	6982592	y	y	splicing	LAMA1(NM_005559:exon42:c.5797-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5797-2A>T)	.	.	0.999988247793601	0.93
18	6982591	T	C	18	6982592	y	y	splicing	LAMA1(NM_005559:exon42:c.5797-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5797-2A>G)	.	.	0.999988247793601	0.93
18	6982591	T	G	18	6982592	y	y	splicing	LAMA1(NM_005559:exon42:c.5797-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon42:c.5797-2A>C)	.	.	0.999988247793601	0.93
18	6982592	G	A	18	6982593	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0180607367938156	0.04
18	6982592	G	C	18	6982593	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999786064209277	0.964
18	6982592	G	T	18	6982593	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.972297059101185	0.83
18	6982593	G	A	18	6982594	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.57055064558332E-5	0.02
18	6982593	G	C	18	6982594	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.74130118518233E-5	0.004
18	6982593	G	T	18	6982594	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.64930793748255E-5	0.008
18	6982594	A	C	18	6982595	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.2170103932618	0.588
18	6982594	A	G	18	6982595	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00988078052282265	0.214
18	6982594	A	T	18	6982595	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.725734659496518	0.594
18	6982595	A	C	18	6982596	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998860012147864	0.922
18	6982595	A	G	18	6982596	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.209185483093636	0.392
18	6982595	A	T	18	6982596	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998860012147864	0.912
18	6982596	A	C	18	6982597	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0483737626290572	0.188
18	6982596	A	G	18	6982597	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.73714737677501E-5	0.004
18	6982596	A	T	18	6982597	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0365417079656503	0.206
18	6982597	A	C	18	6982598	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.880295846381819	0.79
18	6982597	A	G	18	6982598	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00535597839600952	0.224
18	6982597	A	T	18	6982598	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.993607928797411	0.874
18	6982598	C	A	18	6982599	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45678702934543E-4	0.0
18	6982598	C	G	18	6982599	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.71286274207077E-4	0.002
18	6982598	C	T	18	6982599	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.30508158312859E-4	0.022
18	6982599	A	C	18	6982600	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.33872845374974	0.618
18	6982599	A	G	18	6982600	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00493675130244442	0.15
18	6982599	A	T	18	6982600	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999927659277059	0.986
18	6982600	G	A	18	6982601	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.16903582346389E-5	0.0
18	6982600	G	C	18	6982601	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00397938864932342	0.244
18	6982600	G	T	18	6982601	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0646805713557856	0.152
18	6982601	A	C	18	6982602	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0559299815125377	0.488
18	6982601	A	G	18	6982602	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.75447840602479E-4	0.034
18	6982601	A	T	18	6982602	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.354938224351665	0.578
18	6983090	T	A	18	6983091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.13284737117314E-4	0.006
18	6983090	T	C	18	6983091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.86930628804395E-5	0.01
18	6983090	T	G	18	6983091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.07445643788811E-5	0.04
18	6983091	T	A	18	6983092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.16380722150654E-4	0.016
18	6983091	T	C	18	6983092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.05594483151535E-4	0.006
18	6983091	T	G	18	6983092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.71583271965496E-4	0.006
18	6983092	T	A	18	6983093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.98501777021816E-5	0.018
18	6983092	T	C	18	6983093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10713229720799E-4	0.01
18	6983092	T	G	18	6983093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.07684514939546E-5	0.022
18	6983093	C	A	18	6983094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999975271766315	0.992
18	6983093	C	G	18	6983094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999970206652381	0.984
18	6983093	C	T	18	6983094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999978187889922	0.992
18	6983094	C	A	18	6983095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.66249814078207E-5	0.008
18	6983094	C	G	18	6983095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.75245891526386E-5	0.03
18	6983094	C	T	18	6983095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.10129575301952E-5	0.012
18	6983095	T	A	18	6983096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998864310810007	0.786
18	6983095	T	C	18	6983096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.33343235371379	0.466
18	6983095	T	G	18	6983096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998500534822681	0.784
18	6983096	A	C	18	6983097	y	y	splicing	LAMA1(NM_005559:exon41:c.5796+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5796+2T>G)	.	.	0.999949819263333	0.944
18	6983096	A	G	18	6983097	y	y	splicing	LAMA1(NM_005559:exon41:c.5796+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5796+2T>C)	.	.	0.999655281144498	0.89
18	6983096	A	T	18	6983097	y	y	splicing	LAMA1(NM_005559:exon41:c.5796+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5796+2T>A)	.	.	0.999949352292957	0.944
18	6983097	C	A	18	6983098	y	y	splicing	LAMA1(NM_005559:exon41:c.5796+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5796+1G>T)	.	.	0.999964529194807	0.96
18	6983097	C	G	18	6983098	y	y	splicing	LAMA1(NM_005559:exon41:c.5796+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5796+1G>C)	.	.	0.999964529194807	0.958
18	6983097	C	T	18	6983098	y	y	splicing	LAMA1(NM_005559:exon41:c.5796+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5796+1G>A)	.	.	0.999964529194807	0.956
18	6983098	C	A	18	6983099	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon40:c.G5796T:p.L1932L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.G5796T:p.L1932L;	0.999971720881607	0.994
18	6983098	C	G	18	6983099	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon40:c.G5796C:p.L1932L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.G5796C:p.L1932L;	0.999991675538648	0.988
18	6983098	C	T	18	6983099	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon40:c.G5796A:p.L1932L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.G5796A:p.L1932L;	0.999987466568704	0.988
18	6983099	A	C	18	6983100	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.T5795G:p.L1932R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.T5795G:p.L1932R;	2.98615294913716E-4	0.06
18	6983099	A	G	18	6983100	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.T5795C:p.L1932P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.T5795C:p.L1932P;	5.22794415755983E-4	0.102
18	6983099	A	T	18	6983100	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.T5795A:p.L1932Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.T5795A:p.L1932Q;	3.53500355501573E-4	0.234
18	6983100	G	A	18	6983101	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon40:c.C5794T:p.L1932L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.C5794T:p.L1932L;	0.0431492840447595	0.408
18	6983100	G	C	18	6983101	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.C5794G:p.L1932V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.C5794G:p.L1932V;	0.00112572824279425	0.124
18	6983100	G	T	18	6983101	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.C5794A:p.L1932M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.C5794A:p.L1932M;	2.02794714470844E-4	0.018
18	6983232	C	A	18	6983233	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.G5662T:p.G1888C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.G5662T:p.G1888C;	2.07258308067677E-5	0.028
18	6983232	C	G	18	6983233	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.G5662C:p.G1888R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.G5662C:p.G1888R;	9.60456992606266E-6	0.0
18	6983232	C	T	18	6983233	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.G5662A:p.G1888S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.G5662A:p.G1888S;	0.0052904402475988	0.144
18	6983233	A	C	18	6983234	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.T5661G:p.S1887R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.T5661G:p.S1887R;	0.0010684514776473	0.192
18	6983233	A	G	18	6983234	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon40:c.T5661C:p.S1887S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.T5661C:p.S1887S;	1.75978504096869E-4	0.052
18	6983233	A	T	18	6983234	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon40:c.T5661A:p.S1887R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon40:c.T5661A:p.S1887R;	1.84819684319918E-4	0.016
18	6983234	C	A	18	6983235	y	y	splicing	LAMA1(NM_005559:exon41:c.5661-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5661-1G>T)	.	.	0.999976059579636	0.9
18	6983234	C	G	18	6983235	y	y	splicing	LAMA1(NM_005559:exon41:c.5661-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5661-1G>C)	.	.	0.999973566977824	0.888
18	6983234	C	T	18	6983235	y	y	splicing	LAMA1(NM_005559:exon41:c.5661-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5661-1G>A)	.	.	0.999976059579636	0.868
18	6983235	T	A	18	6983236	y	y	splicing	LAMA1(NM_005559:exon41:c.5661-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5661-2A>T)	.	.	0.99996777076698	0.892
18	6983235	T	C	18	6983236	y	y	splicing	LAMA1(NM_005559:exon41:c.5661-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5661-2A>G)	.	.	0.99996777076698	0.874
18	6983235	T	G	18	6983236	y	y	splicing	LAMA1(NM_005559:exon41:c.5661-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon41:c.5661-2A>C)	.	.	0.99996777076698	0.874
18	6983236	A	C	18	6983237	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.756224885329428	0.584
18	6983236	A	G	18	6983237	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.03415638010228E-5	0.06
18	6983236	A	T	18	6983237	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.260289139151602	0.388
18	6983237	T	A	18	6983238	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.95797829706283E-4	0.05
18	6983237	T	C	18	6983238	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0151293800231838	0.126
18	6983237	T	G	18	6983238	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.79952168971742E-5	0.026
18	6983238	C	A	18	6983239	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.44362172635607E-5	0.004
18	6983238	C	G	18	6983239	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.44567246961622E-5	0.0
18	6983238	C	T	18	6983239	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.42268708245997E-4	0.058
18	6983239	A	C	18	6983240	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0497870409014542	0.34
18	6983239	A	G	18	6983240	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.54846410854701E-4	0.032
18	6983239	A	T	18	6983240	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996993552266491	0.808
18	6983240	A	C	18	6983241	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.781561194533099	0.548
18	6983240	A	G	18	6983241	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00108110351437017	0.072
18	6983240	A	T	18	6983241	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.993486364895021	0.734
18	6983241	A	C	18	6983242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.78088557074107	0.606
18	6983241	A	G	18	6983242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.37722688328817E-4	0.098
18	6983241	A	T	18	6983242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.947237558517068	0.71
18	6983242	G	A	18	6983243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.68401278121923E-5	0.002
18	6983242	G	C	18	6983243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.20485441929721E-4	0.028
18	6983242	G	T	18	6983243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00349600676362987	0.098
18	6983243	C	A	18	6983244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.51470157684657E-5	0.002
18	6983243	C	G	18	6983244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.32176219712999E-5	0.0
18	6983243	C	T	18	6983244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.47004342743006E-4	0.022
18	6983244	A	C	18	6983245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.232068762840071	0.256
18	6983244	A	G	18	6983245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00671905844164045	0.07
18	6983244	A	T	18	6983245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999008317747614	0.814
18	6983245	G	A	18	6983246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.19544362567705E-5	0.018
18	6983245	G	C	18	6983246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.8050454865727E-4	0.142
18	6983245	G	T	18	6983246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.76228264709591E-4	0.008
18	6985228	G	A	18	6985229	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.01579756700178E-4	0.004
18	6985228	G	C	18	6985229	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.02861605271118E-4	0.004
18	6985228	G	T	18	6985229	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.08573391294095E-4	0.004
18	6985229	T	A	18	6985230	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.03386714426128E-4	0.0
18	6985229	T	C	18	6985230	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.05731866030037E-5	0.0
18	6985229	T	G	18	6985230	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.04821762665085E-5	0.0
18	6985230	T	A	18	6985231	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.40511926195312E-5	0.01
18	6985230	T	C	18	6985231	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26181338124605E-5	0.024
18	6985230	T	G	18	6985231	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.2239290024501E-5	0.018
18	6985231	C	A	18	6985232	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999217031313754	0.664
18	6985231	C	G	18	6985232	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996545583845033	0.62
18	6985231	C	T	18	6985232	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.719214556153574	0.444
18	6985232	C	A	18	6985233	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.79102137408843E-5	0.064
18	6985232	C	G	18	6985233	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.04807388918274E-4	0.06
18	6985232	C	T	18	6985233	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.54712639760514E-5	0.076
18	6985233	T	A	18	6985234	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.138858887743674	0.284
18	6985233	T	C	18	6985234	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00734783185609486	0.148
18	6985233	T	G	18	6985234	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.216861463663485	0.302
18	6985234	A	C	18	6985235	y	y	splicing	LAMA1(NM_005559:exon40:c.5660+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5660+2T>G)	.	.	0.999969712949741	0.84
18	6985234	A	G	18	6985235	y	y	splicing	LAMA1(NM_005559:exon40:c.5660+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5660+2T>C)	.	.	0.946087814407195	0.566
18	6985234	A	T	18	6985235	y	y	splicing	LAMA1(NM_005559:exon40:c.5660+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5660+2T>A)	.	.	0.999969255906173	0.862
18	6985235	C	A	18	6985236	y	y	splicing	LAMA1(NM_005559:exon40:c.5660+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5660+1G>T)	.	.	0.999962153403958	0.878
18	6985235	C	G	18	6985236	y	y	splicing	LAMA1(NM_005559:exon40:c.5660+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5660+1G>C)	.	.	0.999962153403958	0.864
18	6985235	C	T	18	6985236	y	y	splicing	LAMA1(NM_005559:exon40:c.5660+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5660+1G>A)	.	.	0.999962153403958	0.88
18	6985236	C	A	18	6985237	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.G5660T:p.S1887I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.G5660T:p.S1887I;	0.999956322819079	1.0
18	6985236	C	G	18	6985237	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.G5660C:p.S1887T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.G5660C:p.S1887T;	0.999857082056827	0.952
18	6985236	C	T	18	6985237	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.G5660A:p.S1887N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.G5660A:p.S1887N;	0.998944278660799	0.98
18	6985237	T	A	18	6985238	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.A5659T:p.S1887C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.A5659T:p.S1887C;	0.990481877463706	0.798
18	6985237	T	C	18	6985238	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.A5659G:p.S1887G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.A5659G:p.S1887G;	0.233276168202225	0.51
18	6985237	T	G	18	6985238	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.A5659C:p.S1887R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.A5659C:p.S1887R;	0.312850227877526	0.542
18	6985238	G	A	18	6985239	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon39:c.C5658T:p.Y1886Y;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.C5658T:p.Y1886Y;	0.204898621490712	0.354
18	6985238	G	C	18	6985239	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon39:c.C5658G:p.Y1886X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon39:c.C5658G:p.Y1886X;	0.0095425324554642	0.348
18	6985238	G	T	18	6985239	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon39:c.C5658A:p.Y1886X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon39:c.C5658A:p.Y1886X;	0.0231356667640878	0.472
18	6985398	T	A	18	6985399	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.A5498T:p.H1833L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.A5498T:p.H1833L;	2.69329397330357E-4	0.02
18	6985398	T	C	18	6985399	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.A5498G:p.H1833R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.A5498G:p.H1833R;	7.69737180151787E-4	0.016
18	6985398	T	G	18	6985399	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.A5498C:p.H1833P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.A5498C:p.H1833P;	4.94650273134658E-4	0.03
18	6985399	G	A	18	6985400	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.C5497T:p.H1833Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.C5497T:p.H1833Y;	4.73648248037483E-4	0.356
18	6985399	G	C	18	6985400	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.C5497G:p.H1833D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.C5497G:p.H1833D;	4.98712733392076E-4	0.18
18	6985399	G	T	18	6985400	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon39:c.C5497A:p.H1833N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon39:c.C5497A:p.H1833N;	1.4194703438933E-4	0.01
18	6985400	C	A	18	6985401	y	y	splicing	LAMA1(NM_005559:exon40:c.5497-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5497-1G>T)	.	.	0.999947942014418	0.95
18	6985400	C	G	18	6985401	y	y	splicing	LAMA1(NM_005559:exon40:c.5497-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5497-1G>C)	.	.	0.999966040210632	0.948
18	6985400	C	T	18	6985401	y	y	splicing	LAMA1(NM_005559:exon40:c.5497-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5497-1G>A)	.	.	0.999947942014418	0.95
18	6985401	T	A	18	6985402	y	y	splicing	LAMA1(NM_005559:exon40:c.5497-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5497-2A>T)	.	.	0.999957711392063	0.956
18	6985401	T	C	18	6985402	y	y	splicing	LAMA1(NM_005559:exon40:c.5497-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5497-2A>G)	.	.	0.999972413313263	0.956
18	6985401	T	G	18	6985402	y	y	splicing	LAMA1(NM_005559:exon40:c.5497-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon40:c.5497-2A>C)	.	.	0.999972413313263	0.956
18	6985402	A	C	18	6985403	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.6240339615122	0.632
18	6985402	A	G	18	6985403	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.83983377235479E-6	0.028
18	6985402	A	T	18	6985403	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00507044742120094	0.248
18	6985403	C	A	18	6985404	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.1930492655505E-5	0.002
18	6985403	C	G	18	6985404	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.09740216807318E-6	0.0
18	6985403	C	T	18	6985404	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.44876233256251E-5	0.002
18	6985404	A	C	18	6985405	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999178639968688	0.95
18	6985404	A	G	18	6985405	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.86351580068849E-4	0.048
18	6985404	A	T	18	6985405	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996268364038738	0.904
18	6985405	T	A	18	6985406	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.7542639078891E-5	0.004
18	6985405	T	C	18	6985406	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.83306050473217E-5	0.0
18	6985405	T	G	18	6985406	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.6184822169077E-5	0.016
18	6985406	G	A	18	6985407	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.14435637794414E-5	0.012
18	6985406	G	C	18	6985407	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00209946243815778	0.102
18	6985406	G	T	18	6985407	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0014809741332016	0.086
18	6985407	G	A	18	6985408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.85150795321923E-5	0.022
18	6985407	G	C	18	6985408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00597658652135491	0.07
18	6985407	G	T	18	6985408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0047269579041604	0.134
18	6985408	A	C	18	6985409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.578898611196416	0.668
18	6985408	A	G	18	6985409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00612083609194305	0.042
18	6985408	A	T	18	6985409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.726760107935421	0.686
18	6985409	G	A	18	6985410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.46917852618336E-4	0.006
18	6985409	G	C	18	6985410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00882325569705982	0.08
18	6985409	G	T	18	6985410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00429542712094779	0.088
18	6985410	A	C	18	6985411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992681616629816	0.858
18	6985410	A	G	18	6985411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.119929088332294	0.362
18	6985410	A	T	18	6985411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996592056032554	0.908
18	6985411	A	C	18	6985412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0636938774733569	0.546
18	6985411	A	G	18	6985412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.27477540947757E-4	0.05
18	6985411	A	T	18	6985412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0483188984638677	0.566
18	6985518	T	A	18	6985519	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.1485369245795E-5	0.0
18	6985518	T	C	18	6985519	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.36514921121216E-5	0.002
18	6985518	T	G	18	6985519	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.36340088948343E-5	0.002
18	6985519	A	C	18	6985520	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.18065852528896E-5	0.0
18	6985519	A	G	18	6985520	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.90929653216987E-5	0.0
18	6985519	A	T	18	6985520	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.90929653216987E-5	0.0
18	6985520	A	C	18	6985521	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.11860405508568E-4	0.19
18	6985520	A	G	18	6985521	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0431521253139566	0.278
18	6985520	A	T	18	6985521	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0189290076693741	0.22
18	6985521	T	A	18	6985522	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.68929692091896E-4	0.048
18	6985521	T	C	18	6985522	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.44403083022573E-4	0.03
18	6985521	T	G	18	6985522	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.15772069506859E-4	0.064
18	6985522	T	A	18	6985523	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.559424472797261	0.484
18	6985522	T	C	18	6985523	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.599504081348111	0.506
18	6985522	T	G	18	6985523	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.349606391933232	0.452
18	6985523	T	A	18	6985524	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.982503850338064	0.55
18	6985523	T	C	18	6985524	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.237190120049525	0.432
18	6985523	T	G	18	6985524	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995623368009911	0.63
18	6985524	A	C	18	6985525	y	y	splicing	LAMA1(NM_005559:exon39:c.5496+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5496+2T>G)	.	.	0.999871793741964	0.796
18	6985524	A	G	18	6985525	y	y	splicing	LAMA1(NM_005559:exon39:c.5496+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5496+2T>C)	.	.	0.909353195160147	0.546
18	6985524	A	T	18	6985525	y	y	splicing	LAMA1(NM_005559:exon39:c.5496+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5496+2T>A)	.	.	0.999871793741964	0.806
18	6985525	C	A	18	6985526	y	y	splicing	LAMA1(NM_005559:exon39:c.5496+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5496+1G>T)	.	.	0.999976475802857	0.906
18	6985525	C	G	18	6985526	y	y	splicing	LAMA1(NM_005559:exon39:c.5496+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5496+1G>C)	.	.	0.999977162774916	0.84
18	6985525	C	T	18	6985526	y	y	splicing	LAMA1(NM_005559:exon39:c.5496+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5496+1G>A)	.	.	0.999976475802857	0.908
18	6985526	C	A	18	6985527	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.G5496T:p.E1832D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.G5496T:p.E1832D;	0.974777668059357	0.814
18	6985526	C	G	18	6985527	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.G5496C:p.E1832D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.G5496C:p.E1832D;	0.99618319668906	0.81
18	6985526	C	T	18	6985527	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon38:c.G5496A:p.E1832E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.G5496A:p.E1832E;	0.727700991940372	0.558
18	6985527	T	A	18	6985528	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.A5495T:p.E1832V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.A5495T:p.E1832V;	0.816403890733882	0.598
18	6985527	T	C	18	6985528	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.A5495G:p.E1832G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.A5495G:p.E1832G;	0.858913803121948	0.52
18	6985527	T	G	18	6985528	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.A5495C:p.E1832A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.A5495C:p.E1832A;	0.177173450795464	0.528
18	6985528	C	A	18	6985529	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon38:c.G5494T:p.E1832X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon38:c.G5494T:p.E1832X;	0.00207670423781564	0.384
18	6985528	C	G	18	6985529	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.G5494C:p.E1832Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.G5494C:p.E1832Q;	4.30123218068502E-5	0.0
18	6985528	C	T	18	6985529	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.G5494A:p.E1832K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.G5494A:p.E1832K;	2.75281805303977E-5	0.0
18	6985641	T	A	18	6985642	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.A5381T:p.D1794V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.A5381T:p.D1794V;	1.63120863574506E-4	0.016
18	6985641	T	C	18	6985642	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.A5381G:p.D1794G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.A5381G:p.D1794G;	7.06711495664286E-4	0.046
18	6985641	T	G	18	6985642	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.A5381C:p.D1794A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.A5381C:p.D1794A;	1.19947373738216E-4	0.012
18	6985642	C	A	18	6985643	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.G5380T:p.D1794Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.G5380T:p.D1794Y;	0.993894471301048	0.874
18	6985642	C	G	18	6985643	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.G5380C:p.D1794H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.G5380C:p.D1794H;	0.805314026192855	0.674
18	6985642	C	T	18	6985643	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon38:c.G5380A:p.D1794N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon38:c.G5380A:p.D1794N;	0.0100433139771172	0.254
18	6985643	C	A	18	6985644	y	y	splicing	LAMA1(NM_005559:exon39:c.5380-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5380-1G>T)	.	.	0.999988630721284	0.936
18	6985643	C	G	18	6985644	y	y	splicing	LAMA1(NM_005559:exon39:c.5380-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5380-1G>C)	.	.	0.999988630721284	0.936
18	6985643	C	T	18	6985644	y	y	splicing	LAMA1(NM_005559:exon39:c.5380-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5380-1G>A)	.	.	0.999988630721284	0.938
18	6985644	T	A	18	6985645	y	y	splicing	LAMA1(NM_005559:exon39:c.5380-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5380-2A>T)	.	.	0.999990764389106	0.936
18	6985644	T	C	18	6985645	y	y	splicing	LAMA1(NM_005559:exon39:c.5380-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5380-2A>G)	.	.	0.999990764389106	0.936
18	6985644	T	G	18	6985645	y	y	splicing	LAMA1(NM_005559:exon39:c.5380-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon39:c.5380-2A>C)	.	.	0.999990764389106	0.936
18	6985645	G	A	18	6985646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.1015499383233E-4	0.006
18	6985645	G	C	18	6985646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999226188953622	0.772
18	6985645	G	T	18	6985646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.954671424492358	0.56
18	6985646	C	A	18	6985647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.18728675001986E-5	0.002
18	6985646	C	G	18	6985647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.62908407882531E-5	0.028
18	6985646	C	T	18	6985647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.59035769454315E-4	0.0
18	6985647	A	C	18	6985648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.600984864797182	0.302
18	6985647	A	G	18	6985648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.07009939480183E-4	0.07
18	6985647	A	T	18	6985648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999796850692582	0.946
18	6985648	G	A	18	6985649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.67609626247354E-5	0.0
18	6985648	G	C	18	6985649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.003271207142013	0.124
18	6985648	G	T	18	6985649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00312583157018288	0.092
18	6985649	C	A	18	6985650	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.61788582542127E-4	0.006
18	6985649	C	G	18	6985650	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.15575680607572E-4	0.018
18	6985649	C	T	18	6985650	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.47560738080787E-4	0.0
18	6985650	A	C	18	6985651	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00440261092309108	0.214
18	6985650	A	G	18	6985651	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.05153994154014E-4	0.002
18	6985650	A	T	18	6985651	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99973714119234	0.986
18	6985651	G	A	18	6985652	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.99051636700703E-4	0.024
18	6985651	G	C	18	6985652	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0056620657266882	0.088
18	6985651	G	T	18	6985652	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00220837488367889	0.168
18	6985652	A	C	18	6985653	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00892617818809092	0.184
18	6985652	A	G	18	6985653	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.27099481140123E-4	0.084
18	6985652	A	T	18	6985653	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0436900891658324	0.268
18	6985653	A	C	18	6985654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.697809864572808	0.58
18	6985653	A	G	18	6985654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0141889400670961	0.218
18	6985653	A	T	18	6985654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.677774003277195	0.616
18	6985654	A	C	18	6985655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.347519426681633	0.534
18	6985654	A	G	18	6985655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00861928541937279	0.162
18	6985654	A	T	18	6985655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.243215471014332	0.52
18	6986128	A	C	18	6986129	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.54572729762643E-4	0.002
18	6986128	A	G	18	6986129	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.88716780143711E-5	0.0
18	6986128	A	T	18	6986129	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.23400255367235E-4	0.0
18	6986129	G	A	18	6986130	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.45028328580855E-5	0.036
18	6986129	G	C	18	6986130	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.79301764548392E-5	0.006
18	6986129	G	T	18	6986130	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.79301764548392E-5	0.0
18	6986130	A	C	18	6986131	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.978802467903835	0.784
18	6986130	A	G	18	6986131	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.9924899258841	0.844
18	6986130	A	T	18	6986131	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996397373526985	0.738
18	6986131	C	A	18	6986132	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999974978635514	0.974
18	6986131	C	G	18	6986132	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999992428026663	0.966
18	6986131	C	T	18	6986132	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999965708551622	0.992
18	6986132	T	A	18	6986133	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999355766431134	0.864
18	6986132	T	C	18	6986133	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999512578085749	0.896
18	6986132	T	G	18	6986133	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996380630566525	0.84
18	6986133	C	A	18	6986134	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998887020520353	0.658
18	6986133	C	G	18	6986134	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999254540746639	0.742
18	6986133	C	T	18	6986134	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.30093202543031E-4	0.018
18	6986134	A	C	18	6986135	y	y	splicing	LAMA1(NM_005559:exon38:c.5379+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5379+2T>G)	.	.	0.999971317418422	0.888
18	6986134	A	G	18	6986135	y	y	splicing	LAMA1(NM_005559:exon38:c.5379+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5379+2T>C)	.	.	0.999852282391432	0.866
18	6986134	A	T	18	6986135	y	y	splicing	LAMA1(NM_005559:exon38:c.5379+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5379+2T>A)	.	.	0.999951957019574	0.892
18	6986135	C	A	18	6986136	y	y	splicing	LAMA1(NM_005559:exon38:c.5379+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5379+1G>T)	.	.	0.99996469115006	0.908
18	6986135	C	G	18	6986136	y	y	splicing	LAMA1(NM_005559:exon38:c.5379+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5379+1G>C)	.	.	0.99996469115006	0.904
18	6986135	C	T	18	6986136	y	y	splicing	LAMA1(NM_005559:exon38:c.5379+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5379+1G>A)	.	.	0.99996469115006	0.91
18	6986136	A	C	18	6986137	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.T5379G:p.S1793R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.T5379G:p.S1793R;	8.27211091413518E-5	0.11
18	6986136	A	G	18	6986137	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon37:c.T5379C:p.S1793S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.T5379C:p.S1793S;	1.30129076887724E-5	0.018
18	6986136	A	T	18	6986137	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.T5379A:p.S1793R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.T5379A:p.S1793R;	7.37680515212217E-6	0.152
18	6986137	C	A	18	6986138	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5378T:p.S1793I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5378T:p.S1793I;	4.00831247173568E-4	0.154
18	6986137	C	G	18	6986138	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5378C:p.S1793T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5378C:p.S1793T;	1.57764875571927E-4	0.008
18	6986137	C	T	18	6986138	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5378A:p.S1793N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5378A:p.S1793N;	1.73653381561615E-5	0.004
18	6986138	T	A	18	6986139	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.A5377T:p.S1793C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.A5377T:p.S1793C;	0.0216194801938751	0.304
18	6986138	T	C	18	6986139	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.A5377G:p.S1793G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.A5377G:p.S1793G;	0.0010014425926385	0.138
18	6986138	T	G	18	6986139	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.A5377C:p.S1793R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.A5377C:p.S1793R;	1.42655960896921E-5	0.026
18	6986345	C	A	18	6986346	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5170T:p.A1724S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5170T:p.A1724S;	0.978892224776707	0.772
18	6986345	C	G	18	6986346	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5170C:p.A1724P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5170C:p.A1724P;	0.983609608573424	0.812
18	6986345	C	T	18	6986346	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5170A:p.A1724T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5170A:p.A1724T;	0.992310646529933	0.79
18	6986346	C	A	18	6986347	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5169T:p.K1723N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5169T:p.K1723N;	0.862543590984626	0.71
18	6986346	C	G	18	6986347	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon37:c.G5169C:p.K1723N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5169C:p.K1723N;	0.347938473795556	0.64
18	6986346	C	T	18	6986347	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon37:c.G5169A:p.K1723K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon37:c.G5169A:p.K1723K;	0.00419092744836165	0.148
18	6986347	C	A	18	6986348	y	y	splicing	LAMA1(NM_005559:exon38:c.5169-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5169-1G>T)	.	.	0.999989125585301	0.944
18	6986347	C	G	18	6986348	y	y	splicing	LAMA1(NM_005559:exon38:c.5169-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5169-1G>C)	.	.	0.999989125585301	0.944
18	6986347	C	T	18	6986348	y	y	splicing	LAMA1(NM_005559:exon38:c.5169-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5169-1G>A)	.	.	0.999989125585301	0.944
18	6986348	T	A	18	6986349	y	y	splicing	LAMA1(NM_005559:exon38:c.5169-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5169-2A>T)	.	.	0.999986741007567	0.946
18	6986348	T	C	18	6986349	y	y	splicing	LAMA1(NM_005559:exon38:c.5169-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5169-2A>G)	.	.	0.999986741007567	0.946
18	6986348	T	G	18	6986349	y	y	splicing	LAMA1(NM_005559:exon38:c.5169-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon38:c.5169-2A>C)	.	.	0.999986741007567	0.946
18	6986349	G	A	18	6986350	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00809882173984596	0.084
18	6986349	G	C	18	6986350	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998092561494775	0.862
18	6986349	G	T	18	6986350	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.940355020564484	0.792
18	6986350	A	C	18	6986351	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.97327178546372	0.788
18	6986350	A	G	18	6986351	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.11014290614393E-5	0.088
18	6986350	A	T	18	6986351	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07312072868103E-5	0.0
18	6986351	T	A	18	6986352	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.00392592079547E-4	0.034
18	6986351	T	C	18	6986352	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00168410155533679	0.018
18	6986351	T	G	18	6986352	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.54669807149945E-5	0.0
18	6986352	A	C	18	6986353	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.227160505070309	0.478
18	6986352	A	G	18	6986353	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.81736894821685E-4	0.094
18	6986352	A	T	18	6986353	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.112843152721547	0.422
18	6986353	A	C	18	6986354	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0428574924875027	0.304
18	6986353	A	G	18	6986354	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.01856989659704E-4	0.046
18	6986353	A	T	18	6986354	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0262205079678786	0.306
18	6986354	A	C	18	6986355	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999843026376325	0.994
18	6986354	A	G	18	6986355	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.85179038018158E-5	0.004
18	6986354	A	T	18	6986355	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0161210997345965	0.256
18	6986355	T	A	18	6986356	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.33684777350849E-5	0.006
18	6986355	T	C	18	6986356	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.22916597505125E-5	0.004
18	6986355	T	G	18	6986356	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.33684777350849E-5	0.0
18	6986356	A	C	18	6986357	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999679740012487	0.956
18	6986356	A	G	18	6986357	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.32995647416794E-4	0.044
18	6986356	A	T	18	6986357	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0321059209802843	0.22
18	6986357	T	A	18	6986358	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.9004296542022E-5	0.064
18	6986357	T	C	18	6986358	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.31877525428818E-5	0.0
18	6986357	T	G	18	6986358	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.71511541251566E-5	0.004
18	6986358	G	A	18	6986359	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.23737242997447E-5	0.0
18	6986358	G	C	18	6986359	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00206936721421233	0.046
18	6986358	G	T	18	6986359	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00247072508432242	0.028
18	6992552	A	C	18	6992553	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.11051055797707E-5	0.0
18	6992552	A	G	18	6992553	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.07014835428848E-5	0.0
18	6992552	A	T	18	6992553	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.11051055797707E-5	0.0
18	6992553	A	C	18	6992554	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.16041408685849E-5	0.004
18	6992553	A	G	18	6992554	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.16041408685849E-5	0.004
18	6992553	A	T	18	6992554	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.12869275217467E-5	0.004
18	6992554	A	C	18	6992555	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0834789827251836	0.394
18	6992554	A	G	18	6992555	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.510387828176904	0.51
18	6992554	A	T	18	6992555	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.315071972478313	0.458
18	6992555	C	A	18	6992556	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998748087794878	0.818
18	6992555	C	G	18	6992556	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998217411755479	0.892
18	6992555	C	T	18	6992556	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995667704964804	0.866
18	6992556	T	A	18	6992557	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.856453754086326	0.64
18	6992556	T	C	18	6992557	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.964157591225458	0.696
18	6992556	T	G	18	6992557	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.802891253017794	0.58
18	6992557	T	A	18	6992558	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.986593243947292	0.696
18	6992557	T	C	18	6992558	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.135608637522548	0.186
18	6992557	T	G	18	6992558	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997799851671428	0.772
18	6992558	A	C	18	6992559	y	y	splicing	LAMA1(NM_005559:exon37:c.5168+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5168+2T>G)	.	.	0.99996509239462	0.944
18	6992558	A	G	18	6992559	y	y	splicing	LAMA1(NM_005559:exon37:c.5168+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5168+2T>C)	.	.	0.955315639458846	0.616
18	6992558	A	T	18	6992559	y	y	splicing	LAMA1(NM_005559:exon37:c.5168+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5168+2T>A)	.	.	0.99996509239462	0.944
18	6992559	C	A	18	6992560	y	y	splicing	LAMA1(NM_005559:exon37:c.5168+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5168+1G>T)	.	.	0.99994568797423	0.934
18	6992559	C	G	18	6992560	y	y	splicing	LAMA1(NM_005559:exon37:c.5168+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5168+1G>C)	.	.	0.99994568797423	0.94
18	6992559	C	T	18	6992560	y	y	splicing	LAMA1(NM_005559:exon37:c.5168+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5168+1G>A)	.	.	0.99994568797423	0.934
18	6992560	T	A	18	6992561	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5168T:p.K1723M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5168T:p.K1723M;	0.00345417380980388	0.142
18	6992560	T	C	18	6992561	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5168G:p.K1723R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5168G:p.K1723R;	0.00100647129315273	0.072
18	6992560	T	G	18	6992561	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5168C:p.K1723T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5168C:p.K1723T;	0.00186572632476814	0.034
18	6992561	T	A	18	6992562	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon36:c.A5167T:p.K1723X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon36:c.A5167T:p.K1723X;	0.880861482631473	0.582
18	6992561	T	C	18	6992562	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5167G:p.K1723E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5167G:p.K1723E;	0.159222971226932	0.406
18	6992561	T	G	18	6992562	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5167C:p.K1723Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5167C:p.K1723Q;	0.495747793140454	0.56
18	6992562	G	A	18	6992563	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon36:c.C5166T:p.L1722L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.C5166T:p.L1722L;	0.00306566866645203	0.164
18	6992562	G	C	18	6992563	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon36:c.C5166G:p.L1722L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.C5166G:p.L1722L;	1.09565985963996E-4	0.006
18	6992562	G	T	18	6992563	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon36:c.C5166A:p.L1722L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.C5166A:p.L1722L;	1.98618762015502E-4	0.012
18	6992718	T	A	18	6992719	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5010T:p.E1670D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5010T:p.E1670D;	2.08315926754686E-4	0.01
18	6992718	T	C	18	6992719	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon36:c.A5010G:p.E1670E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5010G:p.E1670E;	1.65980485350191E-5	0.008
18	6992718	T	G	18	6992719	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5010C:p.E1670D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5010C:p.E1670D;	5.91625851255703E-4	0.08
18	6992719	T	A	18	6992720	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5009T:p.E1670V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5009T:p.E1670V;	0.00491433116051821	0.13
18	6992719	T	C	18	6992720	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5009G:p.E1670G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5009G:p.E1670G;	0.0014117908233728	0.034
18	6992719	T	G	18	6992720	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon36:c.A5009C:p.E1670A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon36:c.A5009C:p.E1670A;	0.00124670254636884	0.154
18	6992720	C	A	18	6992721	y	y	splicing	LAMA1(NM_005559:exon37:c.5009-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5009-1G>T)	.	.	0.99994568797423	0.922
18	6992720	C	G	18	6992721	y	y	splicing	LAMA1(NM_005559:exon37:c.5009-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5009-1G>C)	.	.	0.99994568797423	0.934
18	6992720	C	T	18	6992721	y	y	splicing	LAMA1(NM_005559:exon37:c.5009-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5009-1G>A)	.	.	0.99994568797423	0.922
18	6992721	T	A	18	6992722	y	y	splicing	LAMA1(NM_005559:exon37:c.5009-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5009-2A>T)	.	.	0.99996509239462	0.928
18	6992721	T	C	18	6992722	y	y	splicing	LAMA1(NM_005559:exon37:c.5009-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5009-2A>G)	.	.	0.99996509239462	0.936
18	6992721	T	G	18	6992722	y	y	splicing	LAMA1(NM_005559:exon37:c.5009-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon37:c.5009-2A>C)	.	.	0.99996509239462	0.934
18	6992722	A	C	18	6992723	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997650168955428	0.676
18	6992722	A	G	18	6992723	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.78940843606671E-4	0.016
18	6992722	A	T	18	6992723	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.197014207836038	0.468
18	6992723	T	A	18	6992724	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.23948825080999E-4	0.008
18	6992723	T	C	18	6992724	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.40721771177502E-5	0.006
18	6992723	T	G	18	6992724	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.29708377197214E-5	0.0
18	6992724	G	A	18	6992725	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.12821977477058E-5	0.014
18	6992724	G	C	18	6992725	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0226428012562189	0.112
18	6992724	G	T	18	6992725	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0137898275653788	0.08
18	6992725	G	A	18	6992726	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.49838042320318E-4	0.112
18	6992725	G	C	18	6992726	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.261898284205257	0.386
18	6992725	G	T	18	6992726	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0950012322644194	0.402
18	6992726	A	C	18	6992727	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.769576654851302	0.466
18	6992726	A	G	18	6992727	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00141870503502145	0.028
18	6992726	A	T	18	6992727	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.890490644157382	0.528
18	6992727	G	A	18	6992728	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.92276919945051E-5	0.0
18	6992727	G	C	18	6992728	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00853473820130492	0.06
18	6992727	G	T	18	6992728	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00459757952430877	0.054
18	6992728	A	C	18	6992729	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.383685215551622	0.472
18	6992728	A	G	18	6992729	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00185324025915816	0.06
18	6992728	A	T	18	6992729	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.427607012268944	0.528
18	6992729	A	C	18	6992730	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.946894092056617	0.758
18	6992729	A	G	18	6992730	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0103969374576754	0.086
18	6992729	A	T	18	6992730	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.888355909038383	0.83
18	6992730	A	C	18	6992731	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.815608640127563	0.55
18	6992730	A	G	18	6992731	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0036152402561199	0.088
18	6992730	A	T	18	6992731	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.971818120136892	0.686
18	6992731	A	C	18	6992732	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999616212678762	0.978
18	6992731	A	G	18	6992732	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.10789324056695E-4	0.016
18	6992731	A	T	18	6992732	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0663890897932785	0.356
18	6993632	C	A	18	6993633	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.85828911043959E-5	0.002
18	6993632	C	G	18	6993633	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.42517664021688E-4	0.004
18	6993632	C	T	18	6993633	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.15347831930835E-5	0.0
18	6993633	A	C	18	6993634	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.74169507486349E-5	0.002
18	6993633	A	G	18	6993634	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.83606474267169E-5	0.002
18	6993633	A	T	18	6993634	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.8809193774953E-4	0.002
18	6993634	C	A	18	6993635	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.01753815768154E-4	0.064
18	6993634	C	G	18	6993635	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.96474797341988E-4	0.062
18	6993634	C	T	18	6993635	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.3037190852437E-4	0.002
18	6993635	A	C	18	6993636	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26042701510857E-4	0.072
18	6993635	A	G	18	6993636	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.59829656092595E-5	0.002
18	6993635	A	T	18	6993636	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.08888209780919E-4	0.004
18	6993636	C	A	18	6993637	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26071172023314E-4	0.056
18	6993636	C	G	18	6993637	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.00293463373447E-4	0.194
18	6993636	C	T	18	6993637	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.84509090118722E-4	0.026
18	6993637	T	A	18	6993638	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999914726234745	0.906
18	6993637	T	C	18	6993638	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998173824414389	0.7
18	6993637	T	G	18	6993638	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999889078104898	0.848
18	6993638	A	C	18	6993639	y	y	splicing	LAMA1(NM_005559:exon36:c.5008+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.5008+2T>G)	.	.	0.999946188727699	0.96
18	6993638	A	G	18	6993639	y	y	splicing	LAMA1(NM_005559:exon36:c.5008+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.5008+2T>C)	.	.	0.969562536154668	0.69
18	6993638	A	T	18	6993639	y	y	splicing	LAMA1(NM_005559:exon36:c.5008+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.5008+2T>A)	.	.	0.999946188727699	0.964
18	6993639	C	A	18	6993640	y	y	splicing	LAMA1(NM_005559:exon36:c.5008+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.5008+1G>T)	.	.	0.99995586615188	0.956
18	6993639	C	G	18	6993640	y	y	splicing	LAMA1(NM_005559:exon36:c.5008+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.5008+1G>C)	.	.	0.99995586615188	0.95
18	6993639	C	T	18	6993640	y	y	splicing	LAMA1(NM_005559:exon36:c.5008+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.5008+1G>A)	.	.	0.99995586615188	0.956
18	6993640	C	A	18	6993641	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon35:c.G5008T:p.E1670X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon35:c.G5008T:p.E1670X;	0.999994342005323	0.918
18	6993640	C	G	18	6993641	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.G5008C:p.E1670Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.G5008C:p.E1670Q;	0.99999124836977	1.0
18	6993640	C	T	18	6993641	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.G5008A:p.E1670K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.G5008A:p.E1670K;	0.999992042933719	1.0
18	6993641	T	A	18	6993642	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon35:c.A5007T:p.T1669T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.A5007T:p.T1669T;	0.999807827046742	0.952
18	6993641	T	C	18	6993642	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon35:c.A5007G:p.T1669T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.A5007G:p.T1669T;	0.999090975906515	0.904
18	6993641	T	G	18	6993642	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon35:c.A5007C:p.T1669T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.A5007C:p.T1669T;	0.999358543125568	0.898
18	6993642	G	A	18	6993643	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.C5006T:p.T1669I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.C5006T:p.T1669I;	0.0886313145578549	0.578
18	6993642	G	C	18	6993643	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.C5006G:p.T1669R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.C5006G:p.T1669R;	0.00263032425003989	0.164
18	6993642	G	T	18	6993643	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.C5006A:p.T1669K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.C5006A:p.T1669K;	3.66207585853064E-4	0.01
18	6993750	A	C	18	6993751	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.T4898G:p.L1633R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.T4898G:p.L1633R;	0.10408602473843	0.264
18	6993750	A	G	18	6993751	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.T4898C:p.L1633P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.T4898C:p.L1633P;	0.122915193282696	0.248
18	6993750	A	T	18	6993751	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.T4898A:p.L1633H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.T4898A:p.L1633H;	0.119694881736088	0.236
18	6993751	G	A	18	6993752	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.C4897T:p.L1633F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.C4897T:p.L1633F;	0.0869639738230822	0.296
18	6993751	G	C	18	6993752	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.C4897G:p.L1633V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.C4897G:p.L1633V;	0.00261016179772318	0.164
18	6993751	G	T	18	6993752	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon35:c.C4897A:p.L1633I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon35:c.C4897A:p.L1633I;	0.0015609321748261	0.07
18	6993752	C	A	18	6993753	y	y	splicing	LAMA1(NM_005559:exon36:c.4897-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.4897-1G>T)	.	.	0.999976475802857	0.916
18	6993752	C	G	18	6993753	y	y	splicing	LAMA1(NM_005559:exon36:c.4897-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.4897-1G>C)	.	.	0.999976475802857	0.914
18	6993752	C	T	18	6993753	y	y	splicing	LAMA1(NM_005559:exon36:c.4897-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.4897-1G>A)	.	.	0.999960597114489	0.91
18	6993753	T	A	18	6993754	y	y	splicing	LAMA1(NM_005559:exon36:c.4897-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.4897-2A>T)	.	.	0.999971317418422	0.918
18	6993753	T	C	18	6993754	y	y	splicing	LAMA1(NM_005559:exon36:c.4897-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.4897-2A>G)	.	.	0.999971317418422	0.916
18	6993753	T	G	18	6993754	y	y	splicing	LAMA1(NM_005559:exon36:c.4897-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon36:c.4897-2A>C)	.	.	0.999971317418422	0.916
18	6993754	G	A	18	6993755	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00623096037623536	0.162
18	6993754	G	C	18	6993755	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999350331826807	0.844
18	6993754	G	T	18	6993755	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996771188405243	0.798
18	6993755	G	A	18	6993756	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.95782127659294E-5	0.0
18	6993755	G	C	18	6993756	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.935625971141033	0.692
18	6993755	G	T	18	6993756	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.94022484968906E-5	0.02
18	6993756	T	A	18	6993757	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.35719321202896E-5	0.002
18	6993756	T	C	18	6993757	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.60740291576445E-5	0.002
18	6993756	T	G	18	6993757	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.26866132696275E-5	0.0
18	6993757	G	A	18	6993758	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.96718172077587E-5	0.004
18	6993757	G	C	18	6993758	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0116441831963316	0.26
18	6993757	G	T	18	6993758	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.29339527372523E-4	0.15
18	6993758	G	A	18	6993759	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.41390190203408E-5	0.006
18	6993758	G	C	18	6993759	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0441758482729377	0.186
18	6993758	G	T	18	6993759	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0719964100739836	0.166
18	6993759	A	C	18	6993760	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00571533589243951	0.076
18	6993759	A	G	18	6993760	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.04381910235308E-5	0.002
18	6993759	A	T	18	6993760	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00220392462839396	0.098
18	6993760	A	C	18	6993761	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00618783204085737	0.13
18	6993760	A	G	18	6993761	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.51382102997234E-4	0.01
18	6993760	A	T	18	6993761	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0335863068272171	0.19
18	6993761	A	C	18	6993762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00305679094095427	0.198
18	6993761	A	G	18	6993762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.31919049979793E-4	0.022
18	6993761	A	T	18	6993762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0486077095117636	0.268
18	6993762	A	C	18	6993763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.115846267452741	0.374
18	6993762	A	G	18	6993763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.04531669562556E-4	0.124
18	6993762	A	T	18	6993763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0804373795685724	0.35
18	6993763	A	C	18	6993764	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997642103584069	0.916
18	6993763	A	G	18	6993764	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.21445204525744E-4	0.012
18	6993763	A	T	18	6993764	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00234073505858257	0.108
18	6995348	G	A	18	6995349	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.35136398126773E-5	0.0
18	6995348	G	C	18	6995349	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.35136398126773E-5	0.0
18	6995348	G	T	18	6995349	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.28583368392137E-5	0.0
18	6995349	A	C	18	6995350	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.13511005548649E-4	0.0
18	6995349	A	G	18	6995350	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.13511005548649E-4	0.0
18	6995349	A	T	18	6995350	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.35815258566719E-4	0.004
18	6995350	A	C	18	6995351	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0113650917795052	0.34
18	6995350	A	G	18	6995351	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.494538446688998	0.516
18	6995350	A	T	18	6995351	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.310729033277232	0.364
18	6995351	T	A	18	6995352	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.64970528702029E-4	0.006
18	6995351	T	C	18	6995352	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.23946126080616E-5	0.018
18	6995351	T	G	18	6995352	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.67513192552873E-4	0.016
18	6995352	T	A	18	6995353	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.230131099435385	0.398
18	6995352	T	C	18	6995353	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.147025563318039	0.392
18	6995352	T	G	18	6995353	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0722527664058676	0.426
18	6995353	T	A	18	6995354	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998734020348183	0.678
18	6995353	T	C	18	6995354	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.124788035949923	0.458
18	6995353	T	G	18	6995354	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996561787459768	0.764
18	6995354	A	C	18	6995355	y	y	splicing	LAMA1(NM_005559:exon35:c.4896+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4896+2T>G)	.	.	0.999964896440643	0.936
18	6995354	A	G	18	6995355	y	y	splicing	LAMA1(NM_005559:exon35:c.4896+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4896+2T>C)	.	.	0.970947175695068	0.644
18	6995354	A	T	18	6995355	y	y	splicing	LAMA1(NM_005559:exon35:c.4896+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4896+2T>A)	.	.	0.999964896440643	0.938
18	6995355	C	A	18	6995356	y	y	splicing	LAMA1(NM_005559:exon35:c.4896+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4896+1G>T)	.	.	0.999971209564868	0.938
18	6995355	C	G	18	6995356	y	y	splicing	LAMA1(NM_005559:exon35:c.4896+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4896+1G>C)	.	.	0.999971209564868	0.936
18	6995355	C	T	18	6995356	y	y	splicing	LAMA1(NM_005559:exon35:c.4896+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4896+1G>A)	.	.	0.999971209564868	0.938
18	6995356	C	A	18	6995357	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.G4896T:p.K1632N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.G4896T:p.K1632N;	0.998348764155175	0.926
18	6995356	C	G	18	6995357	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.G4896C:p.K1632N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.G4896C:p.K1632N;	0.999988930500273	0.948
18	6995356	C	T	18	6995357	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon34:c.G4896A:p.K1632K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.G4896A:p.K1632K;	0.998011917986897	0.866
18	6995357	T	A	18	6995358	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.A4895T:p.K1632M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.A4895T:p.K1632M;	0.998454733811124	0.99
18	6995357	T	C	18	6995358	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.A4895G:p.K1632R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.A4895G:p.K1632R;	0.607836778667882	0.504
18	6995357	T	G	18	6995358	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.A4895C:p.K1632T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.A4895C:p.K1632T;	0.490880613187605	0.488
18	6995358	T	A	18	6995359	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon34:c.A4894T:p.K1632X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon34:c.A4894T:p.K1632X;	0.0400597113196199	0.558
18	6995358	T	C	18	6995359	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.A4894G:p.K1632E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.A4894G:p.K1632E;	1.07515369383761E-4	0.012
18	6995358	T	G	18	6995359	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.A4894C:p.K1632Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.A4894C:p.K1632Q;	3.56611969822368E-5	0.0
18	6995444	T	A	18	6995445	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.A4808T:p.E1603V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.A4808T:p.E1603V;	1.30447445224725E-4	0.0
18	6995444	T	C	18	6995445	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.A4808G:p.E1603G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.A4808G:p.E1603G;	1.58860538134704E-4	0.01
18	6995444	T	G	18	6995445	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.A4808C:p.E1603A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.A4808C:p.E1603A;	1.86495443831328E-4	0.012
18	6995445	C	A	18	6995446	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon34:c.G4807T:p.E1603X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon34:c.G4807T:p.E1603X;	0.997611184897747	0.662
18	6995445	C	G	18	6995446	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.G4807C:p.E1603Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.G4807C:p.E1603Q;	0.0493581442866055	0.282
18	6995445	C	T	18	6995446	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon34:c.G4807A:p.E1603K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon34:c.G4807A:p.E1603K;	9.31335023734058E-4	0.138
18	6995446	C	A	18	6995447	y	y	splicing	LAMA1(NM_005559:exon35:c.4807-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4807-1G>T)	.	.	0.999977162774916	0.884
18	6995446	C	G	18	6995447	y	y	splicing	LAMA1(NM_005559:exon35:c.4807-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4807-1G>C)	.	.	0.999974785031454	0.878
18	6995446	C	T	18	6995447	y	y	splicing	LAMA1(NM_005559:exon35:c.4807-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4807-1G>A)	.	.	0.99997775019564	0.888
18	6995447	T	A	18	6995448	y	y	splicing	LAMA1(NM_005559:exon35:c.4807-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4807-2A>T)	.	.	0.999972155025474	0.846
18	6995447	T	C	18	6995448	y	y	splicing	LAMA1(NM_005559:exon35:c.4807-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4807-2A>G)	.	.	0.999969255906173	0.866
18	6995447	T	G	18	6995448	y	y	splicing	LAMA1(NM_005559:exon35:c.4807-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon35:c.4807-2A>C)	.	.	0.999969255906173	0.866
18	6995448	A	C	18	6995449	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.69079410300303	0.594
18	6995448	A	G	18	6995449	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.234093779776E-5	0.018
18	6995448	A	T	18	6995449	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00181292901069218	0.128
18	6995449	G	A	18	6995450	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.84540111252497E-5	0.02
18	6995449	G	C	18	6995450	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.84540111252497E-5	0.014
18	6995449	G	T	18	6995450	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.84540111252497E-5	0.026
18	6995450	G	A	18	6995451	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.78732380319073E-5	0.108
18	6995450	G	C	18	6995451	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.86437917107679E-4	0.168
18	6995450	G	T	18	6995451	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.19957098504195E-4	0.18
18	6995451	A	C	18	6995452	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00536726577208525	0.244
18	6995451	A	G	18	6995452	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.44676504784964E-4	0.05
18	6995451	A	T	18	6995452	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00405212840824145	0.196
18	6995452	A	C	18	6995453	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.80456028269148E-4	0.094
18	6995452	A	G	18	6995453	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.80798007686039E-5	0.002
18	6995452	A	T	18	6995453	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97528607440526E-4	0.088
18	6995453	G	A	18	6995454	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.53079203767833E-5	0.006
18	6995453	G	C	18	6995454	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.83812858272738E-4	0.09
18	6995453	G	T	18	6995454	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.43061103670038E-4	0.048
18	6995454	A	C	18	6995455	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00183222086066199	0.13
18	6995454	A	G	18	6995455	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.06011859063023E-4	0.006
18	6995454	A	T	18	6995455	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00193077928133805	0.112
18	6995455	A	C	18	6995456	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999840088612515	0.978
18	6995455	A	G	18	6995456	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.23622885577959E-4	0.006
18	6995455	A	T	18	6995456	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00135740807031898	0.196
18	6995456	T	A	18	6995457	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.28132690980087E-5	0.066
18	6995456	T	C	18	6995457	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.67896111926543E-5	0.004
18	6995456	T	G	18	6995457	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.71992566419947E-5	0.0
18	6995457	G	A	18	6995458	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.35563362872117E-5	0.0
18	6995457	G	C	18	6995458	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.48830039488809E-4	0.036
18	6995457	G	T	18	6995458	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00119288997399993	0.03
18	6997733	G	A	18	6997734	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.58177049502301E-5	0.028
18	6997733	G	C	18	6997734	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.65438934351517E-5	0.016
18	6997733	G	T	18	6997734	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.65438934351517E-5	0.018
18	6997734	T	A	18	6997735	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.25467202314132E-5	0.0
18	6997734	T	C	18	6997735	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.25467202314132E-5	0.0
18	6997734	T	G	18	6997735	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.29581320696264E-5	0.0
18	6997735	A	C	18	6997736	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00826911633062163	0.236
18	6997735	A	G	18	6997736	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0512411378339104	0.346
18	6997735	A	T	18	6997736	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0357180602006907	0.28
18	6997736	C	A	18	6997737	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998029864657029	0.67
18	6997736	C	G	18	6997737	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995430548639875	0.678
18	6997736	C	T	18	6997737	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.690652528764765	0.394
18	6997737	C	A	18	6997738	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.16416523385084E-5	0.156
18	6997737	C	G	18	6997738	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.51501366156484E-5	0.18
18	6997737	C	T	18	6997738	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.27693966711719E-4	0.14
18	6997738	T	A	18	6997739	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.382389514181261	0.512
18	6997738	T	C	18	6997739	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0021576161207429	0.152
18	6997738	T	G	18	6997739	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.382358008249611	0.536
18	6997739	A	C	18	6997740	y	y	splicing	LAMA1(NM_005559:exon34:c.4806+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4806+2T>G)	.	.	0.999971317418422	0.888
18	6997739	A	G	18	6997740	y	y	splicing	LAMA1(NM_005559:exon34:c.4806+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4806+2T>C)	.	.	0.9648338102521	0.582
18	6997739	A	T	18	6997740	y	y	splicing	LAMA1(NM_005559:exon34:c.4806+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4806+2T>A)	.	.	0.999971317418422	0.892
18	6997740	C	A	18	6997741	y	y	splicing	LAMA1(NM_005559:exon34:c.4806+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4806+1G>T)	.	.	0.999955485601963	0.908
18	6997740	C	G	18	6997741	y	y	splicing	LAMA1(NM_005559:exon34:c.4806+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4806+1G>C)	.	.	0.999955485601963	0.908
18	6997740	C	T	18	6997741	y	y	splicing	LAMA1(NM_005559:exon34:c.4806+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4806+1G>A)	.	.	0.999925439713521	0.908
18	6997741	C	A	18	6997742	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.G4806T:p.Q1602H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.G4806T:p.Q1602H;	0.999343817626359	0.962
18	6997741	C	G	18	6997742	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.G4806C:p.Q1602H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.G4806C:p.Q1602H;	0.999887803659318	0.968
18	6997741	C	T	18	6997742	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon33:c.G4806A:p.Q1602Q;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.G4806A:p.Q1602Q;	0.889820895697443	0.654
18	6997742	T	A	18	6997743	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.A4805T:p.Q1602L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.A4805T:p.Q1602L;	0.313719910194221	0.486
18	6997742	T	C	18	6997743	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.A4805G:p.Q1602R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.A4805G:p.Q1602R;	0.0224880064815992	0.292
18	6997742	T	G	18	6997743	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.A4805C:p.Q1602P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.A4805C:p.Q1602P;	0.0442939382687908	0.458
18	6997743	G	A	18	6997744	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon33:c.C4804T:p.Q1602X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon33:c.C4804T:p.Q1602X;	0.668977755324822	0.646
18	6997743	G	C	18	6997744	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.C4804G:p.Q1602E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.C4804G:p.Q1602E;	4.65713934899144E-4	0.04
18	6997743	G	T	18	6997744	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.C4804A:p.Q1602K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.C4804A:p.Q1602K;	6.14438595116913E-5	0.06
18	6997882	G	A	18	6997883	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon33:c.C4665T:p.S1555S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.C4665T:p.S1555S;	8.27240806539445E-6	0.0
18	6997882	G	C	18	6997883	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon33:c.C4665G:p.S1555S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.C4665G:p.S1555S;	1.61472919712507E-5	0.026
18	6997882	G	T	18	6997883	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon33:c.C4665A:p.S1555S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.C4665A:p.S1555S;	7.01487980603129E-5	0.026
18	6997883	G	A	18	6997884	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.C4664T:p.S1555F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.C4664T:p.S1555F;	0.127120839651359	0.36
18	6997883	G	C	18	6997884	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.C4664G:p.S1555C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.C4664G:p.S1555C;	0.176383973727321	0.378
18	6997883	G	T	18	6997884	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon33:c.C4664A:p.S1555Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon33:c.C4664A:p.S1555Y;	0.169160364723466	0.396
18	6997884	C	A	18	6997885	y	y	splicing	LAMA1(NM_005559:exon34:c.4664-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4664-1G>T)	.	.	0.999971463936981	0.884
18	6997884	C	G	18	6997885	y	y	splicing	LAMA1(NM_005559:exon34:c.4664-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4664-1G>C)	.	.	0.999947732434087	0.872
18	6997884	C	T	18	6997885	y	y	splicing	LAMA1(NM_005559:exon34:c.4664-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4664-1G>A)	.	.	0.999971463936981	0.86
18	6997885	T	A	18	6997886	y	y	splicing	LAMA1(NM_005559:exon34:c.4664-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4664-2A>T)	.	.	0.999957541140616	0.872
18	6997885	T	C	18	6997886	y	y	splicing	LAMA1(NM_005559:exon34:c.4664-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4664-2A>G)	.	.	0.999957541140616	0.856
18	6997885	T	G	18	6997886	y	y	splicing	LAMA1(NM_005559:exon34:c.4664-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon34:c.4664-2A>C)	.	.	0.999957541140616	0.854
18	6997886	A	C	18	6997887	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.119249836827523	0.5
18	6997886	A	G	18	6997887	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.6159718075692E-5	0.018
18	6997886	A	T	18	6997887	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.2067022141126E-4	0.186
18	6997887	C	A	18	6997888	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.12494432646111E-5	0.0
18	6997887	C	G	18	6997888	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.38735790412783E-5	0.0
18	6997887	C	T	18	6997888	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.07548444659216E-5	0.0
18	6997888	A	C	18	6997889	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.766625594038778	0.464
18	6997888	A	G	18	6997889	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.40281677354551E-4	0.074
18	6997888	A	T	18	6997889	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999932092551953	0.946
18	6997889	A	C	18	6997890	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.523739290415156	0.44
18	6997889	A	G	18	6997890	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.20068965935812E-4	0.024
18	6997889	A	T	18	6997890	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.491057897300631	0.436
18	6997890	G	A	18	6997891	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.11592275219443E-4	0.028
18	6997890	G	C	18	6997891	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00489431811278395	0.134
18	6997890	G	T	18	6997891	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00455645537977261	0.108
18	6997891	A	C	18	6997892	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00427936220372372	0.366
18	6997891	A	G	18	6997892	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.92404671092341E-5	0.05
18	6997891	A	T	18	6997892	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0113087957711196	0.35
18	6997892	C	A	18	6997893	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.52515013039301E-5	0.004
18	6997892	C	G	18	6997893	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.6145473046765E-5	0.0
18	6997892	C	T	18	6997893	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.06895261040833E-5	0.008
18	6997893	A	C	18	6997894	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.011340450242099	0.192
18	6997893	A	G	18	6997894	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.68261377286605E-4	0.006
18	6997893	A	T	18	6997894	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999656928471633	0.956
18	6997894	A	C	18	6997895	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.268220720928325	0.514
18	6997894	A	G	18	6997895	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00512943999273002	0.206
18	6997894	A	T	18	6997895	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.555817365316168	0.512
18	6997895	A	C	18	6997896	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999619779337925	0.976
18	6997895	A	G	18	6997896	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00144326919138571	0.088
18	6997895	A	T	18	6997896	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0421786752480324	0.484
18	6999436	A	C	18	6999437	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.76450393990458E-4	0.028
18	6999436	A	G	18	6999437	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.57684360682333E-4	0.02
18	6999436	A	T	18	6999437	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.65313866900289E-4	0.01
18	6999437	T	A	18	6999438	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.1369858571864E-4	0.082
18	6999437	T	C	18	6999438	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.57387640631512E-4	0.074
18	6999437	T	G	18	6999438	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.55745651464383E-4	0.032
18	6999438	A	C	18	6999439	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.935250485424781	0.644
18	6999438	A	G	18	6999439	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.848173212531005	0.718
18	6999438	A	T	18	6999439	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.985752473350018	0.638
18	6999439	C	A	18	6999440	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999951477104114	0.956
18	6999439	C	G	18	6999440	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999985962387839	0.95
18	6999439	C	T	18	6999440	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999941219561268	0.99
18	6999440	T	A	18	6999441	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.875209817135444	0.54
18	6999440	T	C	18	6999441	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.860805324337019	0.488
18	6999440	T	G	18	6999441	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.923529713302606	0.55
18	6999441	C	A	18	6999442	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.983102954207151	0.724
18	6999441	C	G	18	6999442	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.979411621000687	0.76
18	6999441	C	T	18	6999442	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.12455082005749E-4	0.02
18	6999442	A	C	18	6999443	y	y	splicing	LAMA1(NM_005559:exon33:c.4663+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4663+2T>G)	.	.	0.999954785339841	0.936
18	6999442	A	G	18	6999443	y	y	splicing	LAMA1(NM_005559:exon33:c.4663+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4663+2T>C)	.	.	0.999953839028537	0.938
18	6999442	A	T	18	6999443	y	y	splicing	LAMA1(NM_005559:exon33:c.4663+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4663+2T>A)	.	.	0.999954785339841	0.932
18	6999443	C	A	18	6999444	y	y	splicing	LAMA1(NM_005559:exon33:c.4663+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4663+1G>T)	.	.	0.999961878876652	0.922
18	6999443	C	G	18	6999444	y	y	splicing	LAMA1(NM_005559:exon33:c.4663+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4663+1G>C)	.	.	0.999961878876652	0.922
18	6999443	C	T	18	6999444	y	y	splicing	LAMA1(NM_005559:exon33:c.4663+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4663+1G>A)	.	.	0.999961878876652	0.908
18	6999444	A	C	18	6999445	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4663G:p.S1555A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4663G:p.S1555A;	4.14405919110638E-4	0.044
18	6999444	A	G	18	6999445	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4663C:p.S1555P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4663C:p.S1555P;	0.0765577249383735	0.424
18	6999444	A	T	18	6999445	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4663A:p.S1555T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4663A:p.S1555T;	8.17798724337246E-4	0.014
18	6999445	A	C	18	6999446	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon32:c.T4662G:p.V1554V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4662G:p.V1554V;	2.72778436027784E-5	0.03
18	6999445	A	G	18	6999446	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon32:c.T4662C:p.V1554V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4662C:p.V1554V;	1.26298048475721E-5	0.004
18	6999445	A	T	18	6999446	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon32:c.T4662A:p.V1554V;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4662A:p.V1554V;	6.66491162293487E-5	0.06
18	6999446	A	C	18	6999447	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4661G:p.V1554G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4661G:p.V1554G;	0.780988336208324	0.568
18	6999446	A	G	18	6999447	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4661C:p.V1554A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4661C:p.V1554A;	0.736322189752291	0.612
18	6999446	A	T	18	6999447	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4661A:p.V1554D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4661A:p.V1554D;	0.736322189752291	0.622
18	6999636	A	C	18	6999637	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4471G:p.C1491G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4471G:p.C1491G;	0.223699235091443	0.466
18	6999636	A	G	18	6999637	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4471C:p.C1491R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4471C:p.C1491R;	0.259548469300353	0.45
18	6999636	A	T	18	6999637	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.T4471A:p.C1491S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.T4471A:p.C1491S;	0.25287533968129	0.474
18	6999637	C	A	18	6999638	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.G4470T:p.R1490S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.G4470T:p.R1490S;	0.999674127299956	0.906
18	6999637	C	G	18	6999638	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon32:c.G4470C:p.R1490S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.G4470C:p.R1490S;	0.999373971316754	0.908
18	6999637	C	T	18	6999638	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon32:c.G4470A:p.R1490R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon32:c.G4470A:p.R1490R;	0.100100938779617	0.536
18	6999638	C	A	18	6999639	y	y	splicing	LAMA1(NM_005559:exon33:c.4470-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4470-1G>T)	.	.	0.99995545544995	0.948
18	6999638	C	G	18	6999639	y	y	splicing	LAMA1(NM_005559:exon33:c.4470-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4470-1G>C)	.	.	0.99995545544995	0.948
18	6999638	C	T	18	6999639	y	y	splicing	LAMA1(NM_005559:exon33:c.4470-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4470-1G>A)	.	.	0.99995545544995	0.944
18	6999639	T	A	18	6999640	y	y	splicing	LAMA1(NM_005559:exon33:c.4470-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4470-2A>T)	.	.	0.999946188727699	0.946
18	6999639	T	C	18	6999640	y	y	splicing	LAMA1(NM_005559:exon33:c.4470-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4470-2A>G)	.	.	0.999946188727699	0.94
18	6999639	T	G	18	6999640	y	y	splicing	LAMA1(NM_005559:exon33:c.4470-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon33:c.4470-2A>C)	.	.	0.999946188727699	0.942
18	6999640	A	C	18	6999641	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.959446474861006	0.552
18	6999640	A	G	18	6999641	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.01209210997482E-4	0.026
18	6999640	A	T	18	6999641	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00399961571486047	0.096
18	6999641	C	A	18	6999642	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.3519283322177E-6	0.0
18	6999641	C	G	18	6999642	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.19928235798956E-5	0.0
18	6999641	C	T	18	6999642	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.13563868516938E-5	0.0
18	6999642	A	C	18	6999643	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.53162111124851E-4	0.072
18	6999642	A	G	18	6999643	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.58608898586356E-5	0.0
18	6999642	A	T	18	6999643	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992986597809927	0.77
18	6999643	G	A	18	6999644	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.97324671893833E-5	0.0
18	6999643	G	C	18	6999644	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.9940211996062E-4	0.018
18	6999643	G	T	18	6999644	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.14430397409819E-4	0.1
18	6999644	A	C	18	6999645	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.11270806913831E-4	0.016
18	6999644	A	G	18	6999645	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.22182801825061E-5	0.002
18	6999644	A	T	18	6999645	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.0791869314802E-4	0.016
18	6999645	A	C	18	6999646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.06405460347419E-4	0.036
18	6999645	A	G	18	6999646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.78898466869478E-5	0.002
18	6999645	A	T	18	6999646	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.73383507059572E-4	0.042
18	6999646	A	C	18	6999647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.54251722302456E-4	0.142
18	6999646	A	G	18	6999647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.23063285997857E-5	0.008
18	6999646	A	T	18	6999647	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.2262774666164E-4	0.112
18	6999647	G	A	18	6999648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.18754770055449E-5	0.0
18	6999647	G	C	18	6999648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.18826900835886E-5	0.002
18	6999647	G	T	18	6999648	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.22299461315389E-4	0.008
18	6999648	G	A	18	6999649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.5570698627923E-5	0.0
18	6999648	G	C	18	6999649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.08564811667437E-4	0.01
18	6999648	G	T	18	6999649	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.14864180658728E-4	0.068
18	6999649	A	C	18	6999650	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.68949605069989E-5	0.044
18	6999649	A	G	18	6999650	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.202281290338E-5	0.0
18	6999649	A	T	18	6999650	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.21130300959249E-5	0.026
18	6999902	C	A	18	6999903	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.69472462972064E-4	0.004
18	6999902	C	G	18	6999903	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.69472462972064E-4	0.006
18	6999902	C	T	18	6999903	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.08457171098356E-4	0.0
18	6999903	C	A	18	6999904	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.18168700964336E-5	0.0
18	6999903	C	G	18	6999904	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.95416100750369E-5	0.0
18	6999903	C	T	18	6999904	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.78389654127837E-5	0.0
18	6999904	A	C	18	6999905	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.52100792014534E-4	0.084
18	6999904	A	G	18	6999905	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00188374722012378	0.138
18	6999904	A	T	18	6999905	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00122178869908581	0.112
18	6999905	T	A	18	6999906	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.93147224947202E-4	0.13
18	6999905	T	C	18	6999906	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.33614158191184E-4	0.024
18	6999905	T	G	18	6999906	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.96991497097061E-4	0.112
18	6999906	G	A	18	6999907	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.90349801128162E-5	0.022
18	6999906	G	C	18	6999907	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.0114638171682E-5	0.03
18	6999906	G	T	18	6999907	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.1125383723673E-5	0.008
18	6999907	T	A	18	6999908	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999278326013641	0.764
18	6999907	T	C	18	6999908	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995555935138139	0.73
18	6999907	T	G	18	6999908	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999887375402035	0.888
18	6999908	A	C	18	6999909	y	y	splicing	LAMA1(NM_005559:exon32:c.4469+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4469+2T>G)	.	.	0.999966514958823	0.942
18	6999908	A	G	18	6999909	y	y	splicing	LAMA1(NM_005559:exon32:c.4469+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4469+2T>C)	.	.	0.963195381721058	0.614
18	6999908	A	T	18	6999909	y	y	splicing	LAMA1(NM_005559:exon32:c.4469+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4469+2T>A)	.	.	0.999966203349492	0.944
18	6999909	C	A	18	6999910	y	y	splicing	LAMA1(NM_005559:exon32:c.4469+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4469+1G>T)	.	.	0.999915710762489	0.946
18	6999909	C	G	18	6999910	y	y	splicing	LAMA1(NM_005559:exon32:c.4469+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4469+1G>C)	.	.	0.999915710762489	0.95
18	6999909	C	T	18	6999910	y	y	splicing	LAMA1(NM_005559:exon32:c.4469+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4469+1G>A)	.	.	0.999915710762489	0.946
18	6999910	C	A	18	6999911	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.G4469T:p.R1490M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.G4469T:p.R1490M;	0.99997030224126	0.996
18	6999910	C	G	18	6999911	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.G4469C:p.R1490T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.G4469C:p.R1490T;	0.9999892332227	1.0
18	6999910	C	T	18	6999911	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.G4469A:p.R1490K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.G4469A:p.R1490K;	0.99997336809772	0.998
18	6999911	T	A	18	6999912	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.A4468T:p.R1490W;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.A4468T:p.R1490W;	0.999851488231747	0.998
18	6999911	T	C	18	6999912	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.A4468G:p.R1490G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.A4468G:p.R1490G;	0.999284528128735	0.994
18	6999911	T	G	18	6999912	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon31:c.A4468C:p.R1490R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.A4468C:p.R1490R;	0.601295781249291	0.554
18	6999912	T	A	18	6999913	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.A4467T:p.E1489D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.A4467T:p.E1489D;	0.517159216692775	0.574
18	6999912	T	C	18	6999913	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon31:c.A4467G:p.E1489E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.A4467G:p.E1489E;	3.19100252245664E-4	0.008
18	6999912	T	G	18	6999913	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.A4467C:p.E1489D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.A4467C:p.E1489D;	8.24837917674637E-6	0.02
18	6999995	A	C	18	6999996	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.T4384G:p.F1462V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.T4384G:p.F1462V;	0.140127743197699	0.484
18	6999995	A	G	18	6999996	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.T4384C:p.F1462L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.T4384C:p.F1462L;	0.129775785401279	0.552
18	6999995	A	T	18	6999996	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.T4384A:p.F1462I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.T4384A:p.F1462I;	0.124066116298398	0.53
18	6999996	A	C	18	6999997	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.T4383G:p.S1461R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.T4383G:p.S1461R;	5.08562208746003E-4	0.28
18	6999996	A	G	18	6999997	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon31:c.T4383C:p.S1461S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.T4383C:p.S1461S;	1.64785781779105E-4	0.002
18	6999996	A	T	18	6999997	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon31:c.T4383A:p.S1461R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon31:c.T4383A:p.S1461R;	9.70718494330251E-5	0.262
18	6999997	C	A	18	6999998	y	y	splicing	LAMA1(NM_005559:exon32:c.4383-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4383-1G>T)	.	.	0.999981760802075	0.936
18	6999997	C	G	18	6999998	y	y	splicing	LAMA1(NM_005559:exon32:c.4383-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4383-1G>C)	.	.	0.999981760802075	0.936
18	6999997	C	T	18	6999998	y	y	splicing	LAMA1(NM_005559:exon32:c.4383-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4383-1G>A)	.	.	0.999981760802075	0.936
18	6999998	T	A	18	6999999	y	y	splicing	LAMA1(NM_005559:exon32:c.4383-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4383-2A>T)	.	.	0.999989917668626	0.926
18	6999998	T	C	18	6999999	y	y	splicing	LAMA1(NM_005559:exon32:c.4383-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4383-2A>G)	.	.	0.999989917668626	0.914
18	6999998	T	G	18	6999999	y	y	splicing	LAMA1(NM_005559:exon32:c.4383-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon32:c.4383-2A>C)	.	.	0.999989917668626	0.914
18	6999999	G	A	18	7000000	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00377600166110908	0.076
18	6999999	G	C	18	7000000	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999730232879029	0.934
18	6999999	G	T	18	7000000	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.965479987819319	0.728
18	7000000	G	A	18	7000001	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07100640603204E-5	0.004
18	7000000	G	C	18	7000001	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.61332363429003E-5	0.0
18	7000000	G	T	18	7000001	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.85846922455474E-5	0.0
18	7000001	A	C	18	7000002	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00366930100285393	0.102
18	7000001	A	G	18	7000002	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.21474580370564E-4	0.002
18	7000001	A	T	18	7000002	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00799308232133934	0.08
18	7000002	G	A	18	7000003	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.55121329304499E-5	0.0
18	7000002	G	C	18	7000003	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00186554375269983	0.242
18	7000002	G	T	18	7000003	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00257846149048181	0.186
18	7000003	G	A	18	7000004	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.45061849719268E-4	0.056
18	7000003	G	C	18	7000004	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00507101152893257	0.266
18	7000003	G	T	18	7000004	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.1152181884066	0.314
18	7000004	A	C	18	7000005	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.12196866698399E-4	0.056
18	7000004	A	G	18	7000005	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.82506545934531E-6	0.0
18	7000004	A	T	18	7000005	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.92370328406648E-4	0.036
18	7000005	A	C	18	7000006	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0073918444526812	0.098
18	7000005	A	G	18	7000006	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00308554516824429	0.01
18	7000005	A	T	18	7000006	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0145264033812873	0.116
18	7000006	A	C	18	7000007	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0030444842006897	0.112
18	7000006	A	G	18	7000007	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.60547171704982E-4	0.008
18	7000006	A	T	18	7000007	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00652565176095242	0.14
18	7000007	A	C	18	7000008	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.94575738261324E-4	0.132
18	7000007	A	G	18	7000008	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.09600590257507E-4	0.016
18	7000007	A	T	18	7000008	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00160549138922286	0.152
18	7000008	G	A	18	7000009	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.71128158942668E-5	0.0
18	7000008	G	C	18	7000009	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.56659083230124E-5	0.004
18	7000008	G	T	18	7000009	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.09894254230569E-5	0.014
18	7002255	G	A	18	7002256	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.42523090183729E-5	0.0
18	7002255	G	C	18	7002256	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.05546422721886E-5	0.004
18	7002255	G	T	18	7002256	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.42523090183729E-5	0.002
18	7002256	G	A	18	7002257	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.26954946448503E-5	0.0
18	7002256	G	C	18	7002257	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.69930370103191E-5	0.0
18	7002256	G	T	18	7002257	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.69930370103191E-5	0.0
18	7002257	A	C	18	7002258	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.36225178704594E-4	0.048
18	7002257	A	G	18	7002258	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00494137411698248	0.076
18	7002257	A	T	18	7002258	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00207643735855144	0.088
18	7002258	C	A	18	7002259	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997974310727079	0.852
18	7002258	C	G	18	7002259	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.986297340963358	0.828
18	7002258	C	T	18	7002259	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994521911430903	0.828
18	7002259	T	A	18	7002260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.607711444428544	0.564
18	7002259	T	C	18	7002260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.76248328303444	0.478
18	7002259	T	G	18	7002260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.163558575486218	0.364
18	7002260	C	A	18	7002261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00775506099346175	0.288
18	7002260	C	G	18	7002261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00404660311221879	0.226
18	7002260	C	T	18	7002261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.10219599151254E-5	0.006
18	7002261	A	C	18	7002262	y	y	splicing	LAMA1(NM_005559:exon31:c.4382+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4382+2T>G)	.	.	0.999988247793601	0.932
18	7002261	A	G	18	7002262	y	y	splicing	LAMA1(NM_005559:exon31:c.4382+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4382+2T>C)	.	.	0.999945827492243	0.868
18	7002261	A	T	18	7002262	y	y	splicing	LAMA1(NM_005559:exon31:c.4382+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4382+2T>A)	.	.	0.999988247793601	0.932
18	7002262	C	A	18	7002263	y	y	splicing	LAMA1(NM_005559:exon31:c.4382+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4382+1G>T)	.	.	0.999990361384395	0.938
18	7002262	C	G	18	7002263	y	y	splicing	LAMA1(NM_005559:exon31:c.4382+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4382+1G>C)	.	.	0.999990361384395	0.938
18	7002262	C	T	18	7002263	y	y	splicing	LAMA1(NM_005559:exon31:c.4382+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4382+1G>A)	.	.	0.999990361384395	0.938
18	7002263	C	A	18	7002264	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.G4382T:p.S1461I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.G4382T:p.S1461I;	0.999910872543646	0.932
18	7002263	C	G	18	7002264	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.G4382C:p.S1461T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.G4382C:p.S1461T;	0.999900858332805	0.882
18	7002263	C	T	18	7002264	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.G4382A:p.S1461N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.G4382A:p.S1461N;	0.979610042081832	0.574
18	7002264	T	A	18	7002265	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4381T:p.S1461C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4381T:p.S1461C;	0.976550472812552	0.628
18	7002264	T	C	18	7002265	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4381G:p.S1461G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4381G:p.S1461G;	0.991802475965472	0.922
18	7002264	T	G	18	7002265	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4381C:p.S1461R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4381C:p.S1461R;	0.976550472812552	0.784
18	7002265	G	A	18	7002266	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon30:c.C4380T:p.A1460A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.C4380T:p.A1460A;	0.654240549474872	0.428
18	7002265	G	C	18	7002266	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon30:c.C4380G:p.A1460A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.C4380G:p.A1460A;	0.0234092411273998	0.11
18	7002265	G	T	18	7002266	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon30:c.C4380A:p.A1460A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.C4380A:p.A1460A;	0.0211564668617997	0.14
18	7002383	T	A	18	7002384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4262T:p.N1421I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4262T:p.N1421I;	0.0609495730057486	0.38
18	7002383	T	C	18	7002384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4262G:p.N1421S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4262G:p.N1421S;	0.00228296628641321	0.018
18	7002383	T	G	18	7002384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4262C:p.N1421T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4262C:p.N1421T;	0.00266418101115938	0.154
18	7002384	T	A	18	7002385	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4261T:p.N1421Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4261T:p.N1421Y;	0.115839631764167	0.238
18	7002384	T	C	18	7002385	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4261G:p.N1421D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4261G:p.N1421D;	3.28074192315385E-4	0.02
18	7002384	T	G	18	7002385	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon30:c.A4261C:p.N1421H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon30:c.A4261C:p.N1421H;	0.107921056863653	0.29
18	7002385	C	A	18	7002386	y	y	splicing	LAMA1(NM_005559:exon31:c.4261-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4261-1G>T)	.	.	0.999982627682474	0.914
18	7002385	C	G	18	7002386	y	y	splicing	LAMA1(NM_005559:exon31:c.4261-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4261-1G>C)	.	.	0.999982627682474	0.88
18	7002385	C	T	18	7002386	y	y	splicing	LAMA1(NM_005559:exon31:c.4261-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4261-1G>A)	.	.	0.999982627682474	0.914
18	7002386	T	A	18	7002387	y	y	splicing	LAMA1(NM_005559:exon31:c.4261-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4261-2A>T)	.	.	0.999979394981131	0.92
18	7002386	T	C	18	7002387	y	y	splicing	LAMA1(NM_005559:exon31:c.4261-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4261-2A>G)	.	.	0.999979394981131	0.92
18	7002386	T	G	18	7002387	y	y	splicing	LAMA1(NM_005559:exon31:c.4261-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon31:c.4261-2A>C)	.	.	0.999979394981131	0.92
18	7002387	G	A	18	7002388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00351742094415779	0.102
18	7002387	G	C	18	7002388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999744191535639	0.762
18	7002387	G	T	18	7002388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996517403016768	0.812
18	7002388	G	A	18	7002389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.18760316298189E-5	0.004
18	7002388	G	C	18	7002389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.18794171478435E-5	0.01
18	7002388	G	T	18	7002389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.1326068619008E-5	0.002
18	7002389	G	A	18	7002390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.94071583457583E-5	0.022
18	7002389	G	C	18	7002390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00142283842032553	0.098
18	7002389	G	T	18	7002390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00107399126751487	0.09
18	7002390	A	C	18	7002391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.539065125924556	0.65
18	7002390	A	G	18	7002391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.86386893866209E-5	0.026
18	7002390	A	T	18	7002391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.729465496232021	0.632
18	7002391	G	A	18	7002392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36940547347456E-5	0.0
18	7002391	G	C	18	7002392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.49325173785241E-4	0.134
18	7002391	G	T	18	7002392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00609506341592214	0.166
18	7002392	C	A	18	7002393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.05329845372548E-5	0.022
18	7002392	C	G	18	7002393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.24559291353607E-5	0.0
18	7002392	C	T	18	7002393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00153693117962975	0.004
18	7002393	C	A	18	7002394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.66166274642709E-4	0.05
18	7002393	C	G	18	7002394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.42483756851654E-4	0.05
18	7002393	C	T	18	7002394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998575434310426	0.946
18	7002394	C	A	18	7002395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07080640409271E-4	0.032
18	7002394	C	G	18	7002395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07080640409271E-4	0.032
18	7002394	C	T	18	7002395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999291274957453	0.956
18	7002395	A	C	18	7002396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.851370918279778	0.474
18	7002395	A	G	18	7002396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00316027350517527	0.282
18	7002395	A	T	18	7002396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999902887056313	0.886
18	7002396	C	A	18	7002397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.50106619841518E-5	0.046
18	7002396	C	G	18	7002397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.38845839138119E-5	0.08
18	7002396	C	T	18	7002397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.53247865379155E-5	0.028
18	7007130	C	A	18	7007131	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.17919746220608E-4	0.03
18	7007130	C	G	18	7007131	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.0136547134211E-4	0.152
18	7007130	C	T	18	7007131	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.42212857457444E-4	0.03
18	7007131	A	C	18	7007132	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.11440423108318E-4	0.012
18	7007131	A	G	18	7007132	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.34119968715825E-4	0.176
18	7007131	A	T	18	7007132	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.03123400169606E-4	0.162
18	7007132	G	A	18	7007133	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.70740492131762E-4	0.096
18	7007132	G	C	18	7007133	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.27434135769095E-4	0.096
18	7007132	G	T	18	7007133	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.61257430783218E-4	0.046
18	7007133	C	A	18	7007134	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999992820713405	0.944
18	7007133	C	G	18	7007134	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999989843897418	0.99
18	7007133	C	T	18	7007134	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999989843897418	0.986
18	7007134	A	C	18	7007135	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.96632492716324E-6	0.022
18	7007134	A	G	18	7007135	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.17324622757853E-5	0.06
18	7007134	A	T	18	7007135	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.16688602019671E-5	0.02
18	7007135	T	A	18	7007136	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999924012444681	0.982
18	7007135	T	C	18	7007136	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998355752081626	0.95
18	7007135	T	G	18	7007136	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.9998464358063	0.98
18	7007136	A	C	18	7007137	y	y	splicing	LAMA1(NM_005559:exon30:c.4260+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4260+2T>G)	.	.	0.999986741007567	0.942
18	7007136	A	G	18	7007137	y	y	splicing	LAMA1(NM_005559:exon30:c.4260+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4260+2T>C)	.	.	0.999892396934419	0.906
18	7007136	A	T	18	7007137	y	y	splicing	LAMA1(NM_005559:exon30:c.4260+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4260+2T>A)	.	.	0.999986741007567	0.942
18	7007137	C	A	18	7007138	y	y	splicing	LAMA1(NM_005559:exon30:c.4260+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4260+1G>T)	.	.	0.999989125585301	0.94
18	7007137	C	G	18	7007138	y	y	splicing	LAMA1(NM_005559:exon30:c.4260+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4260+1G>C)	.	.	0.999989125585301	0.94
18	7007137	C	T	18	7007138	y	y	splicing	LAMA1(NM_005559:exon30:c.4260+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4260+1G>A)	.	.	0.999989125585301	0.94
18	7007138	C	A	18	7007139	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon29:c.G4260T:p.L1420L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.G4260T:p.L1420L;	0.999977266025014	0.998
18	7007138	C	G	18	7007139	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon29:c.G4260C:p.L1420L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.G4260C:p.L1420L;	0.999992343624198	0.996
18	7007138	C	T	18	7007139	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon29:c.G4260A:p.L1420L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.G4260A:p.L1420L;	0.999978424203146	0.992
18	7007139	A	C	18	7007140	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.T4259G:p.L1420R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.T4259G:p.L1420R;	0.306799077993873	0.218
18	7007139	A	G	18	7007140	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.T4259C:p.L1420P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.T4259C:p.L1420P;	0.259100547898641	0.336
18	7007139	A	T	18	7007140	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.T4259A:p.L1420Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.T4259A:p.L1420Q;	0.00151766047298314	0.192
18	7007140	G	A	18	7007141	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon29:c.C4258T:p.L1420L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.C4258T:p.L1420L;	0.113306650429509	0.538
18	7007140	G	C	18	7007141	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.C4258G:p.L1420V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.C4258G:p.L1420V;	0.0315108373054514	0.14
18	7007140	G	T	18	7007141	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.C4258A:p.L1420M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.C4258A:p.L1420M;	0.0026430430315409	0.164
18	7007274	T	A	18	7007275	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.A4124T:p.D1375V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.A4124T:p.D1375V;	0.878592404098713	0.698
18	7007274	T	C	18	7007275	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.A4124G:p.D1375G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.A4124G:p.D1375G;	0.00645063178753006	0.024
18	7007274	T	G	18	7007275	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.A4124C:p.D1375A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.A4124C:p.D1375A;	0.002820265482603	0.048
18	7007275	C	A	18	7007276	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.G4123T:p.D1375Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.G4123T:p.D1375Y;	0.961436848513815	0.84
18	7007275	C	G	18	7007276	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.G4123C:p.D1375H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.G4123C:p.D1375H;	0.967648341929415	0.82
18	7007275	C	T	18	7007276	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon29:c.G4123A:p.D1375N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon29:c.G4123A:p.D1375N;	0.0184004274214078	0.282
18	7007276	C	A	18	7007277	y	y	splicing	LAMA1(NM_005559:exon30:c.4123-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4123-1G>T)	.	.	0.999990361384395	0.938
18	7007276	C	G	18	7007277	y	y	splicing	LAMA1(NM_005559:exon30:c.4123-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4123-1G>C)	.	.	0.999990361384395	0.938
18	7007276	C	T	18	7007277	y	y	splicing	LAMA1(NM_005559:exon30:c.4123-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4123-1G>A)	.	.	0.999990361384395	0.938
18	7007277	T	A	18	7007278	y	y	splicing	LAMA1(NM_005559:exon30:c.4123-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4123-2A>T)	.	.	0.999988247793601	0.932
18	7007277	T	C	18	7007278	y	y	splicing	LAMA1(NM_005559:exon30:c.4123-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4123-2A>G)	.	.	0.999988247793601	0.932
18	7007277	T	G	18	7007278	y	y	splicing	LAMA1(NM_005559:exon30:c.4123-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon30:c.4123-2A>C)	.	.	0.999988247793601	0.932
18	7007278	G	A	18	7007279	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00311306357484012	0.112
18	7007278	G	C	18	7007279	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999430838109677	0.96
18	7007278	G	T	18	7007279	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.933328235030202	0.806
18	7007279	A	C	18	7007280	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.25106394643735E-5	0.006
18	7007279	A	G	18	7007280	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.42767641194597E-5	0.006
18	7007279	A	T	18	7007280	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.16924787626675E-4	0.008
18	7007280	G	A	18	7007281	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.5107173369677E-5	0.0
18	7007280	G	C	18	7007281	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00677163878733603	0.082
18	7007280	G	T	18	7007281	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.010648168775442	0.09
18	7007281	G	A	18	7007282	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.01907150597619E-4	0.004
18	7007281	G	C	18	7007282	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00834827547405862	0.314
18	7007281	G	T	18	7007282	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00708645446242112	0.286
18	7007282	G	A	18	7007283	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.1569084571093E-5	0.008
18	7007282	G	C	18	7007283	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0123272014194261	0.13
18	7007282	G	T	18	7007283	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00520088039230941	0.134
18	7007283	G	A	18	7007284	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.76568506983007E-5	0.002
18	7007283	G	C	18	7007284	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.56512278381996E-4	0.104
18	7007283	G	T	18	7007284	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.31054441041897E-4	0.062
18	7007284	G	A	18	7007285	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.54478079845345E-5	0.0
18	7007284	G	C	18	7007285	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998851437096576	0.948
18	7007284	G	T	18	7007285	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.55432397651447E-4	0.088
18	7007285	T	A	18	7007286	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.62607307458385E-4	0.038
18	7007285	T	C	18	7007286	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.014122501967E-4	0.008
18	7007285	T	G	18	7007286	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.70397154908177E-4	0.024
18	7007286	G	A	18	7007287	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.03503109011911E-5	0.006
18	7007286	G	C	18	7007287	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.7175001363848E-4	0.134
18	7007286	G	T	18	7007287	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.96641708043285E-4	0.084
18	7007287	C	A	18	7007288	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.85112172654239E-4	0.0
18	7007287	C	G	18	7007288	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.91791043086553E-4	0.004
18	7007287	C	T	18	7007288	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.55457508807754E-4	0.03
18	7008479	C	A	18	7008480	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.70213662992488E-5	0.022
18	7008479	C	G	18	7008480	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.52863689971742E-5	0.012
18	7008479	C	T	18	7008480	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.70213662992488E-5	0.022
18	7008480	T	A	18	7008481	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.08562969827588E-5	0.0
18	7008480	T	C	18	7008481	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.37384753621929E-5	0.0
18	7008480	T	G	18	7008481	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.81448916265429E-5	0.002
18	7008481	C	A	18	7008482	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.65680188883349E-5	0.002
18	7008481	C	G	18	7008482	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.58701267955898E-5	0.004
18	7008481	C	T	18	7008482	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.52118983484332E-5	0.002
18	7008482	C	A	18	7008483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.963611609760972	0.578
18	7008482	C	G	18	7008483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.901141493184443	0.576
18	7008482	C	T	18	7008483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.870117078941349	0.496
18	7008483	G	A	18	7008484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.81537821477556E-5	0.0
18	7008483	G	C	18	7008484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.08484039020716E-4	0.004
18	7008483	G	T	18	7008484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.72993636911865E-5	0.018
18	7008484	T	A	18	7008485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99698880834966	0.832
18	7008484	T	C	18	7008485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.680556522692565	0.456
18	7008484	T	G	18	7008485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.984015349637661	0.856
18	7008485	A	C	18	7008486	y	y	splicing	LAMA1(NM_005559:exon29:c.4122+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4122+2T>G)	.	.	0.999955107838025	0.936
18	7008485	A	G	18	7008486	y	y	splicing	LAMA1(NM_005559:exon29:c.4122+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4122+2T>C)	.	.	0.962796694235848	0.614
18	7008485	A	T	18	7008486	y	y	splicing	LAMA1(NM_005559:exon29:c.4122+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4122+2T>A)	.	.	0.999955107838025	0.928
18	7008486	C	A	18	7008487	y	y	splicing	LAMA1(NM_005559:exon29:c.4122+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4122+1G>T)	.	.	0.999985532734767	0.938
18	7008486	C	G	18	7008487	y	y	splicing	LAMA1(NM_005559:exon29:c.4122+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4122+1G>C)	.	.	0.999985532734767	0.938
18	7008486	C	T	18	7008487	y	y	splicing	LAMA1(NM_005559:exon29:c.4122+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4122+1G>A)	.	.	0.999985532734767	0.928
18	7008487	C	A	18	7008488	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.G4122T:p.Q1374H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.G4122T:p.Q1374H;	0.999969377633943	0.998
18	7008487	C	G	18	7008488	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.G4122C:p.Q1374H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.G4122C:p.Q1374H;	0.999997247587064	1.0
18	7008487	C	T	18	7008488	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon28:c.G4122A:p.Q1374Q;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.G4122A:p.Q1374Q;	0.999920334865686	0.988
18	7008488	T	A	18	7008489	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.A4121T:p.Q1374L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4121T:p.Q1374L;	0.999811357439416	0.988
18	7008488	T	C	18	7008489	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.A4121G:p.Q1374R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4121G:p.Q1374R;	0.999751788896521	0.986
18	7008488	T	G	18	7008489	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.A4121C:p.Q1374P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4121C:p.Q1374P;	0.998079535056389	0.94
18	7008489	G	A	18	7008490	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon28:c.C4120T:p.Q1374X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon28:c.C4120T:p.Q1374X;	0.997113552452933	0.934
18	7008489	G	C	18	7008490	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.C4120G:p.Q1374E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.C4120G:p.Q1374E;	0.012016134979776	0.182
18	7008489	G	T	18	7008490	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.C4120A:p.Q1374K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.C4120A:p.Q1374K;	0.94232172576026	0.776
18	7008606	T	A	18	7008607	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.A4003T:p.I1335F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4003T:p.I1335F;	0.815070103914035	0.768
18	7008606	T	C	18	7008607	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.A4003G:p.I1335V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4003G:p.I1335V;	0.472808145359356	0.588
18	7008606	T	G	18	7008607	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.A4003C:p.I1335L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4003C:p.I1335L;	0.880986709173346	0.814
18	7008607	T	A	18	7008608	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.A4002T:p.R1334S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4002T:p.R1334S;	0.00267629039396958	0.182
18	7008607	T	C	18	7008608	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon28:c.A4002G:p.R1334R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4002G:p.R1334R;	2.57613192922511E-5	0.006
18	7008607	T	G	18	7008608	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon28:c.A4002C:p.R1334S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon28:c.A4002C:p.R1334S;	0.00389052707131481	0.168
18	7008608	C	A	18	7008609	y	y	splicing	LAMA1(NM_005559:exon29:c.4002-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4002-1G>T)	.	.	0.99979999874132	0.888
18	7008608	C	G	18	7008609	y	y	splicing	LAMA1(NM_005559:exon29:c.4002-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4002-1G>C)	.	.	0.99979999874132	0.886
18	7008608	C	T	18	7008609	y	y	splicing	LAMA1(NM_005559:exon29:c.4002-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4002-1G>A)	.	.	0.999625438093216	0.89
18	7008609	T	A	18	7008610	y	y	splicing	LAMA1(NM_005559:exon29:c.4002-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4002-2A>T)	.	.	0.999899989033581	0.902
18	7008609	T	C	18	7008610	y	y	splicing	LAMA1(NM_005559:exon29:c.4002-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4002-2A>G)	.	.	0.999863127556528	0.868
18	7008609	T	G	18	7008610	y	y	splicing	LAMA1(NM_005559:exon29:c.4002-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon29:c.4002-2A>C)	.	.	0.999863127556528	0.852
18	7008610	G	A	18	7008611	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00230664755287985	0.176
18	7008610	G	C	18	7008611	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998206751035627	0.716
18	7008610	G	T	18	7008611	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.985841773689829	0.818
18	7008611	T	A	18	7008612	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.32993101150055E-4	0.018
18	7008611	T	C	18	7008612	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.13601266013555E-4	0.004
18	7008611	T	G	18	7008612	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.15182351429431E-4	0.04
18	7008612	G	A	18	7008613	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.62963322369995E-6	0.008
18	7008612	G	C	18	7008613	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.21273730816042E-4	0.09
18	7008612	G	T	18	7008613	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.88733975242614E-5	0.144
18	7008613	C	A	18	7008614	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.94230168864489E-4	0.044
18	7008613	C	G	18	7008614	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.94230168864489E-4	0.036
18	7008613	C	T	18	7008614	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.79326965717312E-5	0.032
18	7008614	A	C	18	7008615	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.667852551385175	0.536
18	7008614	A	G	18	7008615	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.07543532513868E-4	0.02
18	7008614	A	T	18	7008615	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998523775424813	0.954
18	7008615	G	A	18	7008616	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.15144996698978E-5	0.002
18	7008615	G	C	18	7008616	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.31460684807088E-4	0.08
18	7008615	G	T	18	7008616	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00392538842342791	0.128
18	7008616	C	A	18	7008617	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.18681539435057E-5	0.028
18	7008616	C	G	18	7008617	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.18681539435057E-5	0.014
18	7008616	C	T	18	7008617	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.24607353200536E-5	0.014
18	7008617	C	A	18	7008618	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.29758431223164E-5	0.032
18	7008617	C	G	18	7008618	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.41525396925252E-5	0.014
18	7008617	C	T	18	7008618	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997863346924756	0.986
18	7008618	A	C	18	7008619	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998785773300236	0.842
18	7008618	A	G	18	7008619	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0552425089947496	0.482
18	7008618	A	T	18	7008619	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998757291525284	0.872
18	7008619	T	A	18	7008620	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.5966468341049E-5	0.06
18	7008619	T	C	18	7008620	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.81424476404833E-5	0.04
18	7008619	T	G	18	7008620	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.59731158313624E-5	0.054
18	7009230	C	A	18	7009231	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00189058697921924	0.03
18	7009230	C	G	18	7009231	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00236125060465792	0.03
18	7009230	C	T	18	7009231	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00187836519187385	0.03
18	7009231	C	A	18	7009232	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.60119364403354E-5	0.0
18	7009231	C	G	18	7009232	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.40424005759387E-4	0.0
18	7009231	C	T	18	7009232	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.98661106717482E-5	0.0
18	7009232	A	C	18	7009233	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.33798608392749E-5	0.1
18	7009232	A	G	18	7009233	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.74854804604643E-4	0.116
18	7009232	A	T	18	7009233	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.01669031626737E-4	0.068
18	7009233	A	C	18	7009234	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.19367680940827E-5	0.028
18	7009233	A	G	18	7009234	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.18315262632846E-5	0.02
18	7009233	A	T	18	7009234	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.33017368789699E-5	0.026
18	7009234	G	A	18	7009235	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.14633105290914E-4	0.086
18	7009234	G	C	18	7009235	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.60214479328948E-4	0.088
18	7009234	G	T	18	7009235	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.50551953287726E-4	0.046
18	7009235	T	A	18	7009236	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998634452643566	0.97
18	7009235	T	C	18	7009236	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999548400793462	0.962
18	7009235	T	G	18	7009236	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999961958945571	0.986
18	7009236	A	C	18	7009237	y	y	splicing	LAMA1(NM_005559:exon28:c.4001+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.4001+2T>G)	.	.	0.999988247793601	0.932
18	7009236	A	G	18	7009237	y	y	splicing	LAMA1(NM_005559:exon28:c.4001+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.4001+2T>C)	.	.	0.99680584692872	0.718
18	7009236	A	T	18	7009237	y	y	splicing	LAMA1(NM_005559:exon28:c.4001+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.4001+2T>A)	.	.	0.999988247793601	0.932
18	7009237	C	A	18	7009238	y	y	splicing	LAMA1(NM_005559:exon28:c.4001+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.4001+1G>T)	.	.	0.999990361384395	0.938
18	7009237	C	G	18	7009238	y	y	splicing	LAMA1(NM_005559:exon28:c.4001+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.4001+1G>C)	.	.	0.999990361384395	0.938
18	7009237	C	T	18	7009238	y	y	splicing	LAMA1(NM_005559:exon28:c.4001+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.4001+1G>A)	.	.	0.999990361384395	0.938
18	7009238	C	A	18	7009239	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.G4001T:p.R1334I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.G4001T:p.R1334I;	0.999989972246503	0.996
18	7009238	C	G	18	7009239	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.G4001C:p.R1334T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.G4001C:p.R1334T;	0.999996443197837	0.994
18	7009238	C	T	18	7009239	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.G4001A:p.R1334K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.G4001A:p.R1334K;	0.999995988131724	1.0
18	7009239	T	A	18	7009240	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon27:c.A4000T:p.R1334X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon27:c.A4000T:p.R1334X;	0.999875241637039	0.968
18	7009239	T	C	18	7009240	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.A4000G:p.R1334G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.A4000G:p.R1334G;	0.999816845950201	0.954
18	7009239	T	G	18	7009240	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon27:c.A4000C:p.R1334R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.A4000C:p.R1334R;	0.998138493795716	0.946
18	7009240	G	A	18	7009241	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon27:c.C3999T:p.S1333S;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.C3999T:p.S1333S;	0.989753852293076	0.842
18	7009240	G	C	18	7009241	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.C3999G:p.S1333R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.C3999G:p.S1333R;	0.062504656187497	0.396
18	7009240	G	T	18	7009241	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.C3999A:p.S1333R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.C3999A:p.S1333R;	0.215724354475246	0.624
18	7009364	T	A	18	7009365	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.A3875T:p.N1292I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.A3875T:p.N1292I;	4.37920667878478E-5	0.032
18	7009364	T	C	18	7009365	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.A3875G:p.N1292S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.A3875G:p.N1292S;	3.11720536659814E-4	0.016
18	7009364	T	G	18	7009365	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.A3875C:p.N1292T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.A3875C:p.N1292T;	7.62429179691647E-4	0.034
18	7009365	T	A	18	7009366	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.A3874T:p.N1292Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.A3874T:p.N1292Y;	7.51344803562207E-4	0.246
18	7009365	T	C	18	7009366	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.A3874G:p.N1292D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.A3874G:p.N1292D;	1.18342776473872E-5	0.0
18	7009365	T	G	18	7009366	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon27:c.A3874C:p.N1292H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon27:c.A3874C:p.N1292H;	2.87979518956113E-4	0.036
18	7009366	C	A	18	7009367	y	y	splicing	LAMA1(NM_005559:exon28:c.3874-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.3874-1G>T)	.	.	0.999990361384395	0.948
18	7009366	C	G	18	7009367	y	y	splicing	LAMA1(NM_005559:exon28:c.3874-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.3874-1G>C)	.	.	0.999990361384395	0.948
18	7009366	C	T	18	7009367	y	y	splicing	LAMA1(NM_005559:exon28:c.3874-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.3874-1G>A)	.	.	0.999990361384395	0.948
18	7009367	T	A	18	7009368	y	y	splicing	LAMA1(NM_005559:exon28:c.3874-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.3874-2A>T)	.	.	0.999988247793601	0.948
18	7009367	T	C	18	7009368	y	y	splicing	LAMA1(NM_005559:exon28:c.3874-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.3874-2A>G)	.	.	0.999988247793601	0.948
18	7009367	T	G	18	7009368	y	y	splicing	LAMA1(NM_005559:exon28:c.3874-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon28:c.3874-2A>C)	.	.	0.999988247793601	0.948
18	7009368	G	A	18	7009369	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0438705094034274	0.134
18	7009368	G	C	18	7009369	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999661419683401	0.946
18	7009368	G	T	18	7009369	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999563530177623	0.836
18	7009369	T	A	18	7009370	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.7454583019621E-4	0.006
18	7009369	T	C	18	7009370	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.58408598896302E-4	0.072
18	7009369	T	G	18	7009370	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.18247856783642E-4	0.02
18	7009370	A	C	18	7009371	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00366523312209154	0.2
18	7009370	A	G	18	7009371	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.28580656901267E-5	0.066
18	7009370	A	T	18	7009371	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.9281913564562E-4	0.156
18	7009371	G	A	18	7009372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.15145101491824E-4	0.024
18	7009371	G	C	18	7009372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00237533629519182	0.186
18	7009371	G	T	18	7009372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00274866486632842	0.174
18	7009372	A	C	18	7009373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00201858771565473	0.062
18	7009372	A	G	18	7009373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.4307165489437E-5	0.014
18	7009372	A	T	18	7009373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00178427735584653	0.052
18	7009373	A	C	18	7009374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.9996541135504	0.938
18	7009373	A	G	18	7009374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.09198172036237E-5	0.0
18	7009373	A	T	18	7009374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00117313313661342	0.078
18	7009374	T	A	18	7009375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.64393717879355E-5	0.004
18	7009374	T	C	18	7009375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.70320569360741E-4	0.0
18	7009374	T	G	18	7009375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.44398049584972E-4	0.0
18	7009375	G	A	18	7009376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.7164350658199E-4	0.002
18	7009375	G	C	18	7009376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00178406747862866	0.104
18	7009375	G	T	18	7009376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00161366871074393	0.062
18	7009376	A	C	18	7009377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0150921442119185	0.172
18	7009376	A	G	18	7009377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.57932203069377E-4	0.098
18	7009376	A	T	18	7009377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0103620876915456	0.222
18	7009377	G	A	18	7009378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.54842130893826E-6	0.0
18	7009377	G	C	18	7009378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.66383446695819E-4	0.052
18	7009377	G	T	18	7009378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.70018820639703E-4	0.034
18	7010191	A	C	18	7010192	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.01169069243816E-5	0.014
18	7010191	A	G	18	7010192	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45769249776637E-5	0.0
18	7010191	A	T	18	7010192	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.3260728057089E-5	0.002
18	7010192	T	A	18	7010193	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36305960349217E-5	0.002
18	7010192	T	C	18	7010193	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.73608177447732E-6	0.0
18	7010192	T	G	18	7010193	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.97348532914231E-6	0.002
18	7010193	T	A	18	7010194	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.54228837736413E-5	0.014
18	7010193	T	C	18	7010194	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36445588847684E-5	0.014
18	7010193	T	G	18	7010194	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.34599185305947E-5	0.038
18	7010194	A	C	18	7010195	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.18760020374166E-5	0.004
18	7010194	A	G	18	7010195	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.81829945220082E-6	0.0
18	7010194	A	T	18	7010195	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.74600449186267E-5	0.028
18	7010195	T	A	18	7010196	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999205974832707	0.824
18	7010195	T	C	18	7010196	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997330024146465	0.83
18	7010195	T	G	18	7010196	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995673692996115	0.76
18	7010196	C	A	18	7010197	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.903001114862819	0.614
18	7010196	C	G	18	7010197	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.912765081248291	0.618
18	7010196	C	T	18	7010197	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.60268656235838E-4	0.162
18	7010197	A	C	18	7010198	y	y	splicing	LAMA1(NM_005559:exon27:c.3873+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3873+2T>G)	.	.	0.999955202219928	0.924
18	7010197	A	G	18	7010198	y	y	splicing	LAMA1(NM_005559:exon27:c.3873+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3873+2T>C)	.	.	0.999684666211506	0.896
18	7010197	A	T	18	7010198	y	y	splicing	LAMA1(NM_005559:exon27:c.3873+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3873+2T>A)	.	.	0.999955202219928	0.926
18	7010198	C	A	18	7010199	y	y	splicing	LAMA1(NM_005559:exon27:c.3873+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3873+1G>T)	.	.	0.999948737127494	0.908
18	7010198	C	G	18	7010199	y	y	splicing	LAMA1(NM_005559:exon27:c.3873+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3873+1G>C)	.	.	0.99994920976939	0.914
18	7010198	C	T	18	7010199	y	y	splicing	LAMA1(NM_005559:exon27:c.3873+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3873+1G>A)	.	.	0.999948737127494	0.908
18	7010199	C	A	18	7010200	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.G3873T:p.E1291D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.G3873T:p.E1291D;	0.999971574740908	0.996
18	7010199	C	G	18	7010200	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.G3873C:p.E1291D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.G3873C:p.E1291D;	0.999992545676924	0.998
18	7010199	C	T	18	7010200	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon26:c.G3873A:p.E1291E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.G3873A:p.E1291E;	0.999983103320146	0.99
18	7010200	T	A	18	7010201	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.A3872T:p.E1291V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.A3872T:p.E1291V;	0.999836635748794	0.958
18	7010200	T	C	18	7010201	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.A3872G:p.E1291G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.A3872G:p.E1291G;	0.99979280317751	0.97
18	7010200	T	G	18	7010201	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.A3872C:p.E1291A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.A3872C:p.E1291A;	0.999700145167849	0.958
18	7010201	C	A	18	7010202	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon26:c.G3871T:p.E1291X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon26:c.G3871T:p.E1291X;	0.986152937801428	0.758
18	7010201	C	G	18	7010202	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.G3871C:p.E1291Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.G3871C:p.E1291Q;	0.942439532637597	0.734
18	7010201	C	T	18	7010202	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.G3871A:p.E1291K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.G3871A:p.E1291K;	0.952525983213633	0.808
18	7010383	A	C	18	7010384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.T3689G:p.L1230R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.T3689G:p.L1230R;	0.500705550926658	0.292
18	7010383	A	G	18	7010384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.T3689C:p.L1230P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.T3689C:p.L1230P;	0.598731346824673	0.44
18	7010383	A	T	18	7010384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.T3689A:p.L1230H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.T3689A:p.L1230H;	0.85319496196709	0.404
18	7010384	G	A	18	7010385	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.C3688T:p.L1230F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.C3688T:p.L1230F;	0.9958191798332	0.882
18	7010384	G	C	18	7010385	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.C3688G:p.L1230V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.C3688G:p.L1230V;	0.953563616872297	0.538
18	7010384	G	T	18	7010385	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon26:c.C3688A:p.L1230I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon26:c.C3688A:p.L1230I;	0.623897744946698	0.57
18	7010385	C	A	18	7010386	y	y	splicing	LAMA1(NM_005559:exon27:c.3688-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3688-1G>T)	.	.	0.999986675681007	0.93
18	7010385	C	G	18	7010386	y	y	splicing	LAMA1(NM_005559:exon27:c.3688-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3688-1G>C)	.	.	0.999986675681007	0.93
18	7010385	C	T	18	7010386	y	y	splicing	LAMA1(NM_005559:exon27:c.3688-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3688-1G>A)	.	.	0.999986675681007	0.93
18	7010386	T	A	18	7010387	y	y	splicing	LAMA1(NM_005559:exon27:c.3688-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3688-2A>T)	.	.	0.999988247793601	0.926
18	7010386	T	C	18	7010387	y	y	splicing	LAMA1(NM_005559:exon27:c.3688-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3688-2A>G)	.	.	0.999988247793601	0.926
18	7010386	T	G	18	7010387	y	y	splicing	LAMA1(NM_005559:exon27:c.3688-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon27:c.3688-2A>C)	.	.	0.999988247793601	0.926
18	7010387	A	C	18	7010388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.924714538599347	0.622
18	7010387	A	G	18	7010388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.28324294443319E-5	0.004
18	7010387	A	T	18	7010388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00216609150375128	0.234
18	7010388	T	A	18	7010389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.00211081682209E-4	0.022
18	7010388	T	C	18	7010389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.38896813298052E-4	0.004
18	7010388	T	G	18	7010389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.13527763271027E-4	0.0
18	7010389	C	A	18	7010390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.41644640748476E-4	0.11
18	7010389	C	G	18	7010390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.80078089073279E-4	0.044
18	7010389	C	T	18	7010390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.03813328837998E-4	0.052
18	7010390	A	C	18	7010391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0298307143534798	0.284
18	7010390	A	G	18	7010391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.09794666589425E-4	0.004
18	7010390	A	T	18	7010391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999976869767945	0.954
18	7010391	A	C	18	7010392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0372781793433251	0.118
18	7010391	A	G	18	7010392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.28484161822733E-4	0.0
18	7010391	A	T	18	7010392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0163614915666459	0.078
18	7010392	A	C	18	7010393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99982863405327	0.968
18	7010392	A	G	18	7010393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.0860819946661E-5	0.004
18	7010392	A	T	18	7010393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.011309720132497	0.132
18	7010393	T	A	18	7010394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.39602914441974E-5	0.014
18	7010393	T	C	18	7010394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.52731086712782E-5	0.004
18	7010393	T	G	18	7010394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.93151056878411E-5	0.004
18	7010394	A	C	18	7010395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0681579227823187	0.294
18	7010394	A	G	18	7010395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.15537039804988E-4	0.034
18	7010394	A	T	18	7010395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.321759075952576	0.474
18	7010395	A	C	18	7010396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999880616472317	0.952
18	7010395	A	G	18	7010396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0799040592190191	0.398
18	7010395	A	T	18	7010396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.412330396230175	0.576
18	7010396	T	A	18	7010397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.0027181646935E-5	0.004
18	7010396	T	C	18	7010397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.50848836749892E-5	0.022
18	7010396	T	G	18	7010397	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.41052492665589E-5	0.016
18	7011291	C	A	18	7011292	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.07502993296322E-5	0.012
18	7011291	C	G	18	7011292	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.65764920945944E-5	0.016
18	7011291	C	T	18	7011292	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.07502993296322E-5	0.014
18	7011292	A	C	18	7011293	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.15125035961338E-5	0.0
18	7011292	A	G	18	7011293	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.96323034491673E-5	0.0
18	7011292	A	T	18	7011293	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.96323034491673E-5	0.0
18	7011293	C	A	18	7011294	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.62778257326647E-5	0.048
18	7011293	C	G	18	7011294	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.78901261208816E-5	0.04
18	7011293	C	T	18	7011294	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.74364940819402E-5	0.028
18	7011294	C	A	18	7011295	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999054345221207	0.854
18	7011294	C	G	18	7011295	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.836143507760859	0.662
18	7011294	C	T	18	7011295	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.962189948958752	0.864
18	7011295	T	A	18	7011296	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.950661922938729	0.602
18	7011295	T	C	18	7011296	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.945599233450775	0.678
18	7011295	T	G	18	7011296	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.588897603299078	0.4
18	7011296	C	A	18	7011297	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.894718947992584	0.578
18	7011296	C	G	18	7011297	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.813922594751495	0.53
18	7011296	C	T	18	7011297	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.65383895562929E-4	0.018
18	7011297	A	C	18	7011298	y	y	splicing	LAMA1(NM_005559:exon26:c.3687+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3687+2T>G)	.	.	0.999988247793601	0.93
18	7011297	A	G	18	7011298	y	y	splicing	LAMA1(NM_005559:exon26:c.3687+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3687+2T>C)	.	.	0.999943260809542	0.87
18	7011297	A	T	18	7011298	y	y	splicing	LAMA1(NM_005559:exon26:c.3687+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3687+2T>A)	.	.	0.999988247793601	0.93
18	7011298	C	A	18	7011299	y	y	splicing	LAMA1(NM_005559:exon26:c.3687+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3687+1G>T)	.	.	0.999990361384395	0.938
18	7011298	C	G	18	7011299	y	y	splicing	LAMA1(NM_005559:exon26:c.3687+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3687+1G>C)	.	.	0.999990361384395	0.936
18	7011298	C	T	18	7011299	y	y	splicing	LAMA1(NM_005559:exon26:c.3687+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3687+1G>A)	.	.	0.999990361384395	0.938
18	7011299	C	A	18	7011300	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.G3687T:p.Q1229H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.G3687T:p.Q1229H;	0.999985007705141	0.992
18	7011299	C	G	18	7011300	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.G3687C:p.Q1229H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.G3687C:p.Q1229H;	0.9999973734635	0.994
18	7011299	C	T	18	7011300	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon25:c.G3687A:p.Q1229Q;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.G3687A:p.Q1229Q;	0.999963911235407	0.972
18	7011300	T	A	18	7011301	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.A3686T:p.Q1229L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.A3686T:p.Q1229L;	0.999773123430399	0.98
18	7011300	T	C	18	7011301	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.A3686G:p.Q1229R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.A3686G:p.Q1229R;	0.999804677860077	0.994
18	7011300	T	G	18	7011301	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.A3686C:p.Q1229P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.A3686C:p.Q1229P;	0.996241173254279	0.928
18	7011301	G	A	18	7011302	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon25:c.C3685T:p.Q1229X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon25:c.C3685T:p.Q1229X;	0.997605723447815	0.87
18	7011301	G	C	18	7011302	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.C3685G:p.Q1229E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.C3685G:p.Q1229E;	0.206662971141134	0.432
18	7011301	G	T	18	7011302	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.C3685A:p.Q1229K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.C3685A:p.Q1229K;	9.42908387491071E-4	0.146
18	7011477	A	C	18	7011478	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.T3509G:p.V1170G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.T3509G:p.V1170G;	0.624555153210426	0.518
18	7011477	A	G	18	7011478	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.T3509C:p.V1170A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.T3509C:p.V1170A;	0.516769516740835	0.414
18	7011477	A	T	18	7011478	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.T3509A:p.V1170E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.T3509A:p.V1170E;	0.535719494053974	0.536
18	7011478	C	A	18	7011479	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.G3508T:p.V1170L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.G3508T:p.V1170L;	0.884860749582424	0.74
18	7011478	C	G	18	7011479	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.G3508C:p.V1170L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.G3508C:p.V1170L;	0.115816332064718	0.418
18	7011478	C	T	18	7011479	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon25:c.G3508A:p.V1170I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon25:c.G3508A:p.V1170I;	7.56305618573703E-4	0.042
18	7011479	C	A	18	7011480	y	y	splicing	LAMA1(NM_005559:exon26:c.3508-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3508-1G>T)	.	.	0.999985532734767	0.934
18	7011479	C	G	18	7011480	y	y	splicing	LAMA1(NM_005559:exon26:c.3508-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3508-1G>C)	.	.	0.999985532734767	0.934
18	7011479	C	T	18	7011480	y	y	splicing	LAMA1(NM_005559:exon26:c.3508-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3508-1G>A)	.	.	0.999985532734767	0.934
18	7011480	T	A	18	7011481	y	y	splicing	LAMA1(NM_005559:exon26:c.3508-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3508-2A>T)	.	.	0.999988247793601	0.926
18	7011480	T	C	18	7011481	y	y	splicing	LAMA1(NM_005559:exon26:c.3508-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3508-2A>G)	.	.	0.999988247793601	0.926
18	7011480	T	G	18	7011481	y	y	splicing	LAMA1(NM_005559:exon26:c.3508-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon26:c.3508-2A>C)	.	.	0.999988247793601	0.926
18	7011481	A	C	18	7011482	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.986427799493517	0.734
18	7011481	A	G	18	7011482	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.03411556545628E-5	0.038
18	7011481	A	T	18	7011482	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0109681980638595	0.338
18	7011482	A	C	18	7011483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.02247353199096E-4	0.008
18	7011482	A	G	18	7011483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.70594139795477E-5	0.01
18	7011482	A	T	18	7011483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.9840464632395E-5	0.002
18	7011483	A	C	18	7011484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.130578886052333	0.506
18	7011483	A	G	18	7011484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.14250291913608E-4	0.132
18	7011483	A	T	18	7011484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.578028025957486	0.548
18	7011484	C	A	18	7011485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.41686413116794E-5	0.024
18	7011484	C	G	18	7011485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26301102999377E-5	0.0
18	7011484	C	T	18	7011485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.29981119647485E-5	0.0
18	7011485	C	A	18	7011486	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.50361111069683E-5	0.0
18	7011485	C	G	18	7011486	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.69275209186246E-5	0.0
18	7011485	C	T	18	7011486	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995325508750217	0.958
18	7011486	A	C	18	7011487	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.013458584117353	0.214
18	7011486	A	G	18	7011487	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.01777290171679E-5	0.0
18	7011486	A	T	18	7011487	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999953805677415	0.998
18	7011487	C	A	18	7011488	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36281822194509E-5	0.0
18	7011487	C	G	18	7011488	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.55552657684257E-5	0.002
18	7011487	C	T	18	7011488	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.53900566541021E-5	0.01
18	7011488	G	A	18	7011489	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45454373326204E-5	0.0
18	7011488	G	C	18	7011489	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.85497718837795E-5	0.01
18	7011488	G	T	18	7011489	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.894281797912963	0.55
18	7011489	A	C	18	7011490	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.132431411839295	0.488
18	7011489	A	G	18	7011490	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.53459671304784E-4	0.032
18	7011489	A	T	18	7011490	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.410733725342236	0.45
18	7011490	A	C	18	7011491	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00185693866025298	0.154
18	7011490	A	G	18	7011491	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.59636972112796E-4	0.002
18	7011490	A	T	18	7011491	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0066509260221488	0.29
18	7011986	T	A	18	7011987	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.83926613519835E-4	0.008
18	7011986	T	C	18	7011987	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.33083050299662E-4	0.0
18	7011986	T	G	18	7011987	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.6078378219293E-4	0.0
18	7011987	G	A	18	7011988	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.75538498902536E-5	0.0
18	7011987	G	C	18	7011988	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.27237026149931E-5	0.0
18	7011987	G	T	18	7011988	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.94468610562628E-4	0.0
18	7011988	A	C	18	7011989	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.117589838142649	0.362
18	7011988	A	G	18	7011989	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.22745505076468	0.452
18	7011988	A	T	18	7011989	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.127520092638795	0.348
18	7011989	C	A	18	7011990	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999980845398425	0.968
18	7011989	C	G	18	7011990	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99997598840707	0.982
18	7011989	C	T	18	7011990	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999978799790387	0.992
18	7011990	T	A	18	7011991	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.822140778018137	0.544
18	7011990	T	C	18	7011991	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.94241293458853	0.7
18	7011990	T	G	18	7011991	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.293984573717855	0.422
18	7011991	T	A	18	7011992	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999290796926071	0.83
18	7011991	T	C	18	7011992	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.46842743441434E-4	0.092
18	7011991	T	G	18	7011992	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999738240228825	0.85
18	7011992	A	C	18	7011993	y	y	splicing	LAMA1(NM_005559:exon25:c.3507+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3507+2T>G)	.	.	0.999986903042585	0.928
18	7011992	A	G	18	7011993	y	y	splicing	LAMA1(NM_005559:exon25:c.3507+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3507+2T>C)	.	.	0.994681817792832	0.642
18	7011992	A	T	18	7011993	y	y	splicing	LAMA1(NM_005559:exon25:c.3507+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3507+2T>A)	.	.	0.999989917668626	0.926
18	7011993	C	A	18	7011994	y	y	splicing	LAMA1(NM_005559:exon25:c.3507+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3507+1G>T)	.	.	0.999981760802075	0.936
18	7011993	C	G	18	7011994	y	y	splicing	LAMA1(NM_005559:exon25:c.3507+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3507+1G>C)	.	.	0.999981760802075	0.936
18	7011993	C	T	18	7011994	y	y	splicing	LAMA1(NM_005559:exon25:c.3507+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3507+1G>A)	.	.	0.999981760802075	0.936
18	7011994	T	A	18	7011995	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon24:c.A3507T:p.P1169P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.A3507T:p.P1169P;	1.24163197560614E-4	0.192
18	7011994	T	C	18	7011995	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon24:c.A3507G:p.P1169P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.A3507G:p.P1169P;	3.79383105825401E-5	0.042
18	7011994	T	G	18	7011995	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon24:c.A3507C:p.P1169P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.A3507C:p.P1169P;	1.57516239674182E-5	0.008
18	7011995	G	A	18	7011996	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.C3506T:p.P1169L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.C3506T:p.P1169L;	0.00136452333078664	0.018
18	7011995	G	C	18	7011996	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.C3506G:p.P1169R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.C3506G:p.P1169R;	1.07184133780783E-4	0.028
18	7011995	G	T	18	7011996	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.C3506A:p.P1169Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.C3506A:p.P1169Q;	3.11855504050262E-4	0.138
18	7011996	G	A	18	7011997	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.C3505T:p.P1169S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.C3505T:p.P1169S;	0.996862881359215	0.732
18	7011996	G	C	18	7011997	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.C3505G:p.P1169A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.C3505G:p.P1169A;	0.803826021906534	0.612
18	7011996	G	T	18	7011997	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.C3505A:p.P1169T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.C3505A:p.P1169T;	0.895000090703694	0.696
18	7012136	T	A	18	7012137	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.A3365T:p.E1122V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.A3365T:p.E1122V;	0.00175905893283418	0.014
18	7012136	T	C	18	7012137	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.A3365G:p.E1122G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.A3365G:p.E1122G;	0.00369594463302776	0.036
18	7012136	T	G	18	7012137	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.A3365C:p.E1122A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.A3365C:p.E1122A;	3.29321495691521E-4	0.052
18	7012137	C	A	18	7012138	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon24:c.G3364T:p.E1122X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon24:c.G3364T:p.E1122X;	0.999934495518815	0.968
18	7012137	C	G	18	7012138	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.G3364C:p.E1122Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.G3364C:p.E1122Q;	0.999328057779236	0.882
18	7012137	C	T	18	7012138	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon24:c.G3364A:p.E1122K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon24:c.G3364A:p.E1122K;	0.995756747290479	0.774
18	7012138	C	A	18	7012139	y	y	splicing	LAMA1(NM_005559:exon25:c.3364-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3364-1G>T)	.	.	0.99995545544995	0.948
18	7012138	C	G	18	7012139	y	y	splicing	LAMA1(NM_005559:exon25:c.3364-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3364-1G>C)	.	.	0.99995586615188	0.948
18	7012138	C	T	18	7012139	y	y	splicing	LAMA1(NM_005559:exon25:c.3364-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3364-1G>A)	.	.	0.99995545544995	0.948
18	7012139	T	A	18	7012140	y	y	splicing	LAMA1(NM_005559:exon25:c.3364-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3364-2A>T)	.	.	0.999946188727699	0.948
18	7012139	T	C	18	7012140	y	y	splicing	LAMA1(NM_005559:exon25:c.3364-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3364-2A>G)	.	.	0.999946188727699	0.946
18	7012139	T	G	18	7012140	y	y	splicing	LAMA1(NM_005559:exon25:c.3364-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon25:c.3364-2A>C)	.	.	0.999946188727699	0.946
18	7012140	A	C	18	7012141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.939572023502536	0.712
18	7012140	A	G	18	7012141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.17566832662877E-5	0.0
18	7012140	A	T	18	7012141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00374420809368115	0.124
18	7012141	C	A	18	7012142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.5353028522982E-5	0.004
18	7012141	C	G	18	7012142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.24219358873721E-5	0.094
18	7012141	C	T	18	7012142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.19831343253367E-5	0.0
18	7012142	A	C	18	7012143	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.25646320602685	0.382
18	7012142	A	G	18	7012143	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00527111428498592	0.12
18	7012142	A	T	18	7012143	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999829831374164	0.87
18	7012143	G	A	18	7012144	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.35619199925177E-5	0.002
18	7012143	G	C	18	7012144	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.06207071414037E-4	0.024
18	7012143	G	T	18	7012144	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.06207071414037E-4	0.026
18	7012144	G	A	18	7012145	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.82612520328637E-5	0.01
18	7012144	G	C	18	7012145	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.11752312181318E-4	0.132
18	7012144	G	T	18	7012145	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.4244731279872E-5	0.054
18	7012145	G	A	18	7012146	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07863683325673E-5	0.042
18	7012145	G	C	18	7012146	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.33372973208127E-5	0.044
18	7012145	G	T	18	7012146	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.53971352384502E-4	0.078
18	7012146	G	A	18	7012147	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.60469022502353E-5	0.0
18	7012146	G	C	18	7012147	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.66112602408991E-4	0.034
18	7012146	G	T	18	7012147	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.07704577231247E-4	0.072
18	7012147	A	C	18	7012148	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.13296038336364E-5	0.076
18	7012147	A	G	18	7012148	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.31995209923019E-5	0.0
18	7012147	A	T	18	7012148	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.52188863980152E-4	0.056
18	7012148	G	A	18	7012149	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.32426929095678E-5	0.0
18	7012148	G	C	18	7012149	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.23053858444341E-5	0.006
18	7012148	G	T	18	7012149	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.22746598446841E-4	0.002
18	7012149	C	A	18	7012150	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.28108539287913E-5	0.002
18	7012149	C	G	18	7012150	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.95349110657612E-5	0.004
18	7012149	C	T	18	7012150	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.06213235724337E-5	0.002
18	7013806	G	A	18	7013807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.47226492317243E-5	0.0
18	7013806	G	C	18	7013807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.99274180398384E-4	0.02
18	7013806	G	T	18	7013807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.52916440977494E-4	0.02
18	7013807	T	A	18	7013808	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.3915010020927E-4	0.032
18	7013807	T	C	18	7013808	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.80405300641051E-4	0.032
18	7013807	T	G	18	7013808	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.22660495981372E-5	0.0
18	7013808	A	C	18	7013809	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00111804587201576	0.1
18	7013808	A	G	18	7013809	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00984255560289485	0.194
18	7013808	A	T	18	7013809	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00589900345937669	0.076
18	7013809	A	C	18	7013810	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.34578992151181E-5	0.0
18	7013809	A	G	18	7013810	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.42201107490765E-5	0.004
18	7013809	A	T	18	7013810	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.48820790435335E-5	0.014
18	7013810	A	C	18	7013811	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.93552093828595E-4	0.154
18	7013810	A	G	18	7013811	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.32133065292898E-4	0.012
18	7013810	A	T	18	7013811	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.13980508187535E-5	0.062
18	7013811	T	A	18	7013812	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994793560523897	0.91
18	7013811	T	C	18	7013812	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995432399444841	0.89
18	7013811	T	G	18	7013812	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99948018642304	0.962
18	7013812	A	C	18	7013813	y	y	splicing	LAMA1(NM_005559:exon24:c.3363+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3363+2T>G)	.	.	0.999989917668626	0.952
18	7013812	A	G	18	7013813	y	y	splicing	LAMA1(NM_005559:exon24:c.3363+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3363+2T>C)	.	.	0.994485838132979	0.626
18	7013812	A	T	18	7013813	y	y	splicing	LAMA1(NM_005559:exon24:c.3363+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3363+2T>A)	.	.	0.999989917668626	0.952
18	7013813	C	A	18	7013814	y	y	splicing	LAMA1(NM_005559:exon24:c.3363+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3363+1G>T)	.	.	0.999985532734767	0.952
18	7013813	C	G	18	7013814	y	y	splicing	LAMA1(NM_005559:exon24:c.3363+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3363+1G>C)	.	.	0.999985532734767	0.952
18	7013813	C	T	18	7013814	y	y	splicing	LAMA1(NM_005559:exon24:c.3363+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3363+1G>A)	.	.	0.999985532734767	0.952
18	7013814	C	A	18	7013815	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.G3363T:p.K1121N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.G3363T:p.K1121N;	0.999991945276243	1.0
18	7013814	C	G	18	7013815	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.G3363C:p.K1121N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.G3363C:p.K1121N;	0.999997269335704	0.972
18	7013814	C	T	18	7013815	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon23:c.G3363A:p.K1121K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.G3363A:p.K1121K;	0.999963376568548	1.0
18	7013815	T	A	18	7013816	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.A3362T:p.K1121M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.A3362T:p.K1121M;	0.999966131689213	0.996
18	7013815	T	C	18	7013816	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.A3362G:p.K1121R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.A3362G:p.K1121R;	0.999950069346907	1.0
18	7013815	T	G	18	7013816	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.A3362C:p.K1121T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.A3362C:p.K1121T;	0.999864934144856	1.0
18	7013816	T	A	18	7013817	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon23:c.A3361T:p.K1121X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon23:c.A3361T:p.K1121X;	0.998444055245945	0.876
18	7013816	T	C	18	7013817	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.A3361G:p.K1121E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.A3361G:p.K1121E;	0.710888360428742	0.452
18	7013816	T	G	18	7013817	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.A3361C:p.K1121Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.A3361C:p.K1121Q;	0.90048728548469	0.682
18	7014049	G	A	18	7014050	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.C3128T:p.A1043V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.C3128T:p.A1043V;	0.0049971022364913	0.082
18	7014049	G	C	18	7014050	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.C3128G:p.A1043G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.C3128G:p.A1043G;	0.0578245419757152	0.204
18	7014049	G	T	18	7014050	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.C3128A:p.A1043D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.C3128A:p.A1043D;	0.101747750884609	0.234
18	7014050	C	A	18	7014051	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.G3127T:p.A1043S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.G3127T:p.A1043S;	0.229976089240647	0.426
18	7014050	C	G	18	7014051	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.G3127C:p.A1043P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.G3127C:p.A1043P;	0.00797195718701512	0.142
18	7014050	C	T	18	7014051	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon23:c.G3127A:p.A1043T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon23:c.G3127A:p.A1043T;	0.002561121012694	0.106
18	7014051	C	A	18	7014052	y	y	splicing	LAMA1(NM_005559:exon24:c.3127-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3127-1G>T)	.	.	0.999990361384395	0.938
18	7014051	C	G	18	7014052	y	y	splicing	LAMA1(NM_005559:exon24:c.3127-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3127-1G>C)	.	.	0.999990361384395	0.938
18	7014051	C	T	18	7014052	y	y	splicing	LAMA1(NM_005559:exon24:c.3127-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3127-1G>A)	.	.	0.999990361384395	0.938
18	7014052	T	A	18	7014053	y	y	splicing	LAMA1(NM_005559:exon24:c.3127-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3127-2A>T)	.	.	0.999978952611685	0.932
18	7014052	T	C	18	7014053	y	y	splicing	LAMA1(NM_005559:exon24:c.3127-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3127-2A>G)	.	.	0.999970661931818	0.93
18	7014052	T	G	18	7014053	y	y	splicing	LAMA1(NM_005559:exon24:c.3127-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon24:c.3127-2A>C)	.	.	0.999978952611685	0.93
18	7014053	G	A	18	7014054	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.10789039611813E-4	0.002
18	7014053	G	C	18	7014054	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998229081764572	0.9
18	7014053	G	T	18	7014054	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.217199846653232	0.464
18	7014054	A	C	18	7014055	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.46966989733396E-5	0.0
18	7014054	A	G	18	7014055	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.51330084327816E-5	0.002
18	7014054	A	T	18	7014055	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.1308253032276E-5	0.0
18	7014055	G	A	18	7014056	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.69078738340459E-5	0.006
18	7014055	G	C	18	7014056	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00236810595287378	0.082
18	7014055	G	T	18	7014056	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.99708774150847E-4	0.03
18	7014056	A	C	18	7014057	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.13519062128767E-4	0.034
18	7014056	A	G	18	7014057	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.3034557272921E-5	0.0
18	7014056	A	T	18	7014057	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.63221282107034E-4	0.066
18	7014057	G	A	18	7014058	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.59151865606844E-4	0.0
18	7014057	G	C	18	7014058	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.79283086912521E-4	0.062
18	7014057	G	T	18	7014058	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00209589606951124	0.102
18	7014058	A	C	18	7014059	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.64953994125562E-5	0.016
18	7014058	A	G	18	7014059	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.0322288786932E-6	0.0
18	7014058	A	T	18	7014059	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.39149000363636E-4	0.022
18	7014059	A	C	18	7014060	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.12195177869391E-4	0.032
18	7014059	A	G	18	7014060	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.13776246975544E-5	0.11
18	7014059	A	T	18	7014060	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.12541139454795E-5	0.028
18	7014060	G	A	18	7014061	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.67980862465951E-5	0.002
18	7014060	G	C	18	7014061	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.53781503277255E-5	0.008
18	7014060	G	T	18	7014061	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.0301167547937E-5	0.012
18	7014061	G	A	18	7014062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.56013095266646E-5	0.016
18	7014061	G	C	18	7014062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.75327880529385E-5	0.012
18	7014061	G	T	18	7014062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.55149410769381E-4	0.29
18	7014062	G	A	18	7014063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.555694882413E-5	0.0
18	7014062	G	C	18	7014063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.82171388650351E-5	0.002
18	7014062	G	T	18	7014063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.62513781002311E-4	0.012
18	7015713	G	A	18	7015714	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.08692400722682E-5	0.002
18	7015713	G	C	18	7015714	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.08692400722682E-5	0.016
18	7015713	G	T	18	7015714	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.08692400722682E-5	0.002
18	7015714	T	A	18	7015715	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.45607869198198E-5	0.0
18	7015714	T	C	18	7015715	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.1739642589144E-5	0.0
18	7015714	T	G	18	7015715	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.43414546799573E-5	0.0
18	7015715	G	A	18	7015716	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26559270213584E-5	0.002
18	7015715	G	C	18	7015716	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.37204063583146E-5	0.03
18	7015715	G	T	18	7015716	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.43578638744988E-5	0.008
18	7015716	C	A	18	7015717	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994454772317886	0.706
18	7015716	C	G	18	7015717	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.7446644572936	0.528
18	7015716	C	T	18	7015717	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995986423838284	0.77
18	7015717	T	A	18	7015718	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0436493300139608	0.2
18	7015717	T	C	18	7015718	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00967613533187487	0.202
18	7015717	T	G	18	7015718	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00745832798751454	0.23
18	7015718	C	A	18	7015719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.237884199233902	0.332
18	7015718	C	G	18	7015719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.017777365826446	0.184
18	7015718	C	T	18	7015719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.02145032467015E-5	0.0
18	7015719	A	C	18	7015720	y	y	splicing	LAMA1(NM_005559:exon23:c.3126+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.3126+2T>G)	.	.	0.999970661931818	0.926
18	7015719	A	G	18	7015720	y	y	splicing	LAMA1(NM_005559:exon23:c.3126+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.3126+2T>C)	.	.	0.999858366494836	0.86
18	7015719	A	T	18	7015720	y	y	splicing	LAMA1(NM_005559:exon23:c.3126+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.3126+2T>A)	.	.	0.999978952611685	0.928
18	7015720	C	A	18	7015721	y	y	splicing	LAMA1(NM_005559:exon23:c.3126+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.3126+1G>T)	.	.	0.999986675681007	0.932
18	7015720	C	G	18	7015721	y	y	splicing	LAMA1(NM_005559:exon23:c.3126+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.3126+1G>C)	.	.	0.999976137096505	0.934
18	7015720	C	T	18	7015721	y	y	splicing	LAMA1(NM_005559:exon23:c.3126+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.3126+1G>A)	.	.	0.999986675681007	0.932
18	7015721	C	A	18	7015722	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.G3126T:p.Q1042H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.G3126T:p.Q1042H;	0.999953588007062	0.996
18	7015721	C	G	18	7015722	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.G3126C:p.Q1042H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.G3126C:p.Q1042H;	0.999989404140091	0.992
18	7015721	C	T	18	7015722	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon22:c.G3126A:p.Q1042Q;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.G3126A:p.Q1042Q;	0.99277267078244	0.93
18	7015722	T	A	18	7015723	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.A3125T:p.Q1042L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.A3125T:p.Q1042L;	0.826886790733238	0.732
18	7015722	T	C	18	7015723	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.A3125G:p.Q1042R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.A3125G:p.Q1042R;	0.897973670523236	0.674
18	7015722	T	G	18	7015723	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.A3125C:p.Q1042P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.A3125C:p.Q1042P;	0.714907640137098	0.656
18	7015723	G	A	18	7015724	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon22:c.C3124T:p.Q1042X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon22:c.C3124T:p.Q1042X;	0.717635136397193	0.618
18	7015723	G	C	18	7015724	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.C3124G:p.Q1042E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.C3124G:p.Q1042E;	0.00160145411167798	0.064
18	7015723	G	T	18	7015724	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.C3124A:p.Q1042K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.C3124A:p.Q1042K;	9.52636380949996E-5	0.062
18	7015856	G	A	18	7015857	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon22:c.C2991T:p.P997P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.C2991T:p.P997P;	7.30030561949854E-4	0.046
18	7015856	G	C	18	7015857	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon22:c.C2991G:p.P997P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.C2991G:p.P997P;	5.56615597206633E-4	0.054
18	7015856	G	T	18	7015857	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon22:c.C2991A:p.P997P;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.C2991A:p.P997P;	0.00140182714722602	0.08
18	7015857	G	A	18	7015858	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.C2990T:p.P997L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.C2990T:p.P997L;	0.00806863334481108	0.246
18	7015857	G	C	18	7015858	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.C2990G:p.P997R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.C2990G:p.P997R;	0.00107135216148342	0.118
18	7015857	G	T	18	7015858	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon22:c.C2990A:p.P997H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon22:c.C2990A:p.P997H;	0.0279105388448855	0.21
18	7015858	C	A	18	7015859	y	y	splicing	LAMA1(NM_005559:exon23:c.2990-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.2990-1G>T)	.	.	0.999915710762489	0.934
18	7015858	C	G	18	7015859	y	y	splicing	LAMA1(NM_005559:exon23:c.2990-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.2990-1G>C)	.	.	0.999915710762489	0.934
18	7015858	C	T	18	7015859	y	y	splicing	LAMA1(NM_005559:exon23:c.2990-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.2990-1G>A)	.	.	0.999915710762489	0.93
18	7015859	T	A	18	7015860	y	y	splicing	LAMA1(NM_005559:exon23:c.2990-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.2990-2A>T)	.	.	0.999966514958823	0.916
18	7015859	T	C	18	7015860	y	y	splicing	LAMA1(NM_005559:exon23:c.2990-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.2990-2A>G)	.	.	0.999978156327223	0.91
18	7015859	T	G	18	7015860	y	y	splicing	LAMA1(NM_005559:exon23:c.2990-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon23:c.2990-2A>C)	.	.	0.999978156327223	0.91
18	7015860	G	A	18	7015861	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.41536949097465E-4	0.028
18	7015860	G	C	18	7015861	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.986630773546988	0.772
18	7015860	G	T	18	7015861	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.449726450284204	0.348
18	7015861	A	C	18	7015862	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.4788251932405E-4	0.076
18	7015861	A	G	18	7015862	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.254598241953E-4	0.004
18	7015861	A	T	18	7015862	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.20974072453994E-5	0.002
18	7015862	A	C	18	7015863	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.919437865960994	0.454
18	7015862	A	G	18	7015863	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0177349825277643	0.17
18	7015862	A	T	18	7015863	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.783931760097569	0.396
18	7015863	A	C	18	7015864	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999969254179037	0.99
18	7015863	A	G	18	7015864	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.8693733517958E-4	0.01
18	7015863	A	T	18	7015864	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.717860404592531	0.638
18	7015864	T	A	18	7015865	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.71545702160004E-5	0.01
18	7015864	T	C	18	7015865	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.00880847789124E-5	0.0
18	7015864	T	G	18	7015865	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.621529550795E-5	0.004
18	7015865	A	C	18	7015866	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.266684237189449	0.454
18	7015865	A	G	18	7015866	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.33353014273099E-4	0.004
18	7015865	A	T	18	7015866	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.127750530386448	0.332
18	7015866	A	C	18	7015867	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00468419712987971	0.254
18	7015866	A	G	18	7015867	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.96735397113335E-5	0.08
18	7015866	A	T	18	7015867	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00668966244005283	0.248
18	7015867	A	C	18	7015868	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0967831060748468	0.376
18	7015867	A	G	18	7015868	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.54324719527407E-4	0.038
18	7015867	A	T	18	7015868	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.218702059796416	0.412
18	7015868	G	A	18	7015869	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.04556859891467E-5	0.0
18	7015868	G	C	18	7015869	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.30494981317412E-4	0.04
18	7015868	G	T	18	7015869	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00206653658775319	0.056
18	7015869	A	C	18	7015870	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999569049429308	0.978
18	7015869	A	G	18	7015870	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.31388188937551E-4	0.006
18	7015869	A	T	18	7015870	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0144692008881152	0.172
18	7016482	A	C	18	7016483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10710114931588E-4	0.002
18	7016482	A	G	18	7016483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.55591704267905E-5	0.0
18	7016482	A	T	18	7016483	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.67378569920084E-5	0.0
18	7016483	G	A	18	7016484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.33272323435633E-4	0.006
18	7016483	G	C	18	7016484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.07553965897311E-4	0.002
18	7016483	G	T	18	7016484	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.52913182419846E-5	0.0
18	7016484	G	A	18	7016485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.68608122023469E-5	0.082
18	7016484	G	C	18	7016485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.84598737531044E-5	0.03
18	7016484	G	T	18	7016485	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.95773401687101E-4	0.012
18	7016485	C	A	18	7016486	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999976008337081	0.946
18	7016485	C	G	18	7016486	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999935332739796	0.996
18	7016485	C	T	18	7016486	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999981145817504	0.996
18	7016486	T	A	18	7016487	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997877621797195	0.884
18	7016486	T	C	18	7016487	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998158952408801	0.9
18	7016486	T	G	18	7016487	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99898971476297	0.92
18	7016487	T	A	18	7016488	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999886714670512	0.974
18	7016487	T	C	18	7016488	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.4836355461896	0.408
18	7016487	T	G	18	7016488	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999815024540345	0.958
18	7016488	A	C	18	7016489	y	y	splicing	LAMA1(NM_005559:exon22:c.2989+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2989+2T>G)	.	.	0.999988247793601	0.932
18	7016488	A	G	18	7016489	y	y	splicing	LAMA1(NM_005559:exon22:c.2989+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2989+2T>C)	.	.	0.994669226766359	0.71
18	7016488	A	T	18	7016489	y	y	splicing	LAMA1(NM_005559:exon22:c.2989+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2989+2T>A)	.	.	0.999988247793601	0.932
18	7016489	C	A	18	7016490	y	y	splicing	LAMA1(NM_005559:exon22:c.2989+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2989+1G>T)	.	.	0.999990361384395	0.938
18	7016489	C	G	18	7016490	y	y	splicing	LAMA1(NM_005559:exon22:c.2989+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2989+1G>C)	.	.	0.999990361384395	0.938
18	7016489	C	T	18	7016490	y	y	splicing	LAMA1(NM_005559:exon22:c.2989+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2989+1G>A)	.	.	0.999990361384395	0.938
18	7016490	G	A	18	7016491	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2989T:p.P997S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2989T:p.P997S;	1.93417882289797E-4	0.078
18	7016490	G	C	18	7016491	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2989G:p.P997A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2989G:p.P997A;	1.43999004910984E-4	0.312
18	7016490	G	T	18	7016491	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2989A:p.P997T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2989A:p.P997T;	1.58066650433076E-4	0.218
18	7016491	T	A	18	7016492	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon21:c.A2988T:p.T996T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.A2988T:p.T996T;	0.998675279308007	0.944
18	7016491	T	C	18	7016492	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon21:c.A2988G:p.T996T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.A2988G:p.T996T;	0.997143088890559	0.956
18	7016491	T	G	18	7016492	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon21:c.A2988C:p.T996T;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.A2988C:p.T996T;	0.996514460886376	0.888
18	7016492	G	A	18	7016493	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2987T:p.T996I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2987T:p.T996I;	0.999383438270486	0.888
18	7016492	G	C	18	7016493	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2987G:p.T996R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2987G:p.T996R;	0.911717765899855	0.612
18	7016492	G	T	18	7016493	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2987A:p.T996K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2987A:p.T996K;	0.957736990535326	0.82
18	7016669	T	A	18	7016670	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.A2810T:p.H937L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.A2810T:p.H937L;	5.23313362806161E-6	0.164
18	7016669	T	C	18	7016670	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.A2810G:p.H937R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.A2810G:p.H937R;	4.80873567927214E-5	0.108
18	7016669	T	G	18	7016670	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.A2810C:p.H937P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.A2810C:p.H937P;	4.78967281319558E-5	0.012
18	7016670	G	A	18	7016671	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2809T:p.H937Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2809T:p.H937Y;	0.00178952661745531	0.238
18	7016670	G	C	18	7016671	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2809G:p.H937D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2809G:p.H937D;	4.80371571042106E-4	0.216
18	7016670	G	T	18	7016671	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon21:c.C2809A:p.H937N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon21:c.C2809A:p.H937N;	4.38846087173088E-5	0.042
18	7016671	C	A	18	7016672	y	y	splicing	LAMA1(NM_005559:exon22:c.2809-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2809-1G>T)	.	.	0.99998761664516	0.862
18	7016671	C	G	18	7016672	y	y	splicing	LAMA1(NM_005559:exon22:c.2809-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2809-1G>C)	.	.	0.99998761664516	0.862
18	7016671	C	T	18	7016672	y	y	splicing	LAMA1(NM_005559:exon22:c.2809-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2809-1G>A)	.	.	0.99998761664516	0.864
18	7016672	T	A	18	7016673	y	y	splicing	LAMA1(NM_005559:exon22:c.2809-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2809-2A>T)	.	.	0.9998780249771	0.854
18	7016672	T	C	18	7016673	y	y	splicing	LAMA1(NM_005559:exon22:c.2809-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2809-2A>G)	.	.	0.9998780249771	0.86
18	7016672	T	G	18	7016673	y	y	splicing	LAMA1(NM_005559:exon22:c.2809-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon22:c.2809-2A>C)	.	.	0.9998780249771	0.856
18	7016673	G	A	18	7016674	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.88531683044828E-4	0.118
18	7016673	G	C	18	7016674	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.773700324193671	0.61
18	7016673	G	T	18	7016674	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.240440568093768	0.56
18	7016674	T	A	18	7016675	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.10311383072146E-4	0.024
18	7016674	T	C	18	7016675	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.977568645072003	0.982
18	7016674	T	G	18	7016675	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.85284920085135E-5	0.026
18	7016675	T	A	18	7016676	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.73857246380109E-5	0.142
18	7016675	T	C	18	7016676	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999579231020801	0.978
18	7016675	T	G	18	7016676	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.62337690653463E-5	0.028
18	7016676	T	A	18	7016677	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.29872784543951E-4	0.042
18	7016676	T	C	18	7016677	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.47259707088204E-4	0.022
18	7016676	T	G	18	7016677	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.4726066700317E-5	0.014
18	7016677	C	A	18	7016678	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.04434300552367E-5	0.086
18	7016677	C	G	18	7016678	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.49687589178606E-6	0.074
18	7016677	C	T	18	7016678	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.78369364585752E-4	0.112
18	7016678	A	C	18	7016679	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0268684747919788	0.412
18	7016678	A	G	18	7016679	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.0275757877901E-6	0.0
18	7016678	A	T	18	7016679	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992988414778149	0.942
18	7016679	C	A	18	7016680	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.69142471447964E-5	0.092
18	7016679	C	G	18	7016680	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.30580019153452E-5	0.046
18	7016679	C	T	18	7016680	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.23756712591392E-4	0.032
18	7016680	C	A	18	7016681	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.4215105942486E-5	0.012
18	7016680	C	G	18	7016681	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.14655293070508E-5	0.002
18	7016680	C	T	18	7016681	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.983450829796603	0.892
18	7016681	A	C	18	7016682	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.057601042465119	0.294
18	7016681	A	G	18	7016682	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.70539227685955E-5	0.048
18	7016681	A	T	18	7016682	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.984278612584283	0.808
18	7016682	A	C	18	7016683	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.63742693400144E-4	0.292
18	7016682	A	G	18	7016683	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.22640743221097E-5	0.016
18	7016682	A	T	18	7016683	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0103098376161156	0.444
18	7017269	C	A	18	7017270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.15347831930835E-5	0.0
18	7017269	C	G	18	7017270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.82906627326802E-5	0.0
18	7017269	C	T	18	7017270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.71264281634427E-5	0.002
18	7017270	A	C	18	7017271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.74635184698704E-5	0.014
18	7017270	A	G	18	7017271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.37550049726255E-5	0.014
18	7017270	A	T	18	7017271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.37550049726255E-5	0.016
18	7017271	T	A	18	7017272	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.39737294120126E-4	0.006
18	7017271	T	C	18	7017272	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.58393644242256E-4	0.008
18	7017271	T	G	18	7017272	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.91209858624114E-4	0.05
18	7017272	C	A	18	7017273	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997406669631121	0.932
18	7017272	C	G	18	7017273	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999969173043165	0.958
18	7017272	C	T	18	7017273	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999886195381385	0.96
18	7017273	T	A	18	7017274	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997050358331117	0.932
18	7017273	T	C	18	7017274	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995496017660569	0.846
18	7017273	T	G	18	7017274	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996209590622071	0.894
18	7017274	T	A	18	7017275	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999711546710213	0.83
18	7017274	T	C	18	7017275	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.403140226326743	0.466
18	7017274	T	G	18	7017275	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999834191580815	0.862
18	7017275	A	C	18	7017276	y	y	splicing	LAMA1(NM_005559:exon21:c.2808+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2808+2T>G)	.	.	0.999988247793601	0.928
18	7017275	A	G	18	7017276	y	y	splicing	LAMA1(NM_005559:exon21:c.2808+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2808+2T>C)	.	.	0.999931547473318	0.878
18	7017275	A	T	18	7017276	y	y	splicing	LAMA1(NM_005559:exon21:c.2808+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2808+2T>A)	.	.	0.999988247793601	0.928
18	7017276	C	A	18	7017277	y	y	splicing	LAMA1(NM_005559:exon21:c.2808+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2808+1G>T)	.	.	0.999981760802075	0.938
18	7017276	C	G	18	7017277	y	y	splicing	LAMA1(NM_005559:exon21:c.2808+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2808+1G>C)	.	.	0.999981760802075	0.938
18	7017276	C	T	18	7017277	y	y	splicing	LAMA1(NM_005559:exon21:c.2808+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2808+1G>A)	.	.	0.999981760802075	0.938
18	7017277	C	A	18	7017278	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.G2808T:p.L936F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.G2808T:p.L936F;	0.99998233077675	0.982
18	7017277	C	G	18	7017278	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.G2808C:p.L936F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.G2808C:p.L936F;	0.999996529962171	0.994
18	7017277	C	T	18	7017278	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon20:c.G2808A:p.L936L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.G2808A:p.L936L;	0.999531016073955	0.972
18	7017278	A	C	18	7017279	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.T2807G:p.L936W;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.T2807G:p.L936W;	3.01543719461965E-5	0.042
18	7017278	A	G	18	7017279	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.T2807C:p.L936S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.T2807C:p.L936S;	6.52039340227686E-5	0.084
18	7017278	A	T	18	7017279	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon20:c.T2807A:p.L936X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon20:c.T2807A:p.L936X;	1.19694169770201E-4	0.346
18	7017279	A	C	18	7017280	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.T2806G:p.L936V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.T2806G:p.L936V;	1.97925975369768E-5	0.016
18	7017279	A	G	18	7017280	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon20:c.T2806C:p.L936L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.T2806C:p.L936L;	2.18478224653676E-5	0.002
18	7017279	A	T	18	7017280	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.T2806A:p.L936M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.T2806A:p.L936M;	1.79724431116809E-5	0.0
18	7017382	G	A	18	7017383	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon20:c.C2703T:p.A901A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.C2703T:p.A901A;	3.00101687792962E-5	0.0
18	7017382	G	C	18	7017383	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon20:c.C2703G:p.A901A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.C2703G:p.A901A;	4.16026928192789E-5	0.008
18	7017382	G	T	18	7017383	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon20:c.C2703A:p.A901A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.C2703A:p.A901A;	1.75624810929016E-5	0.016
18	7017383	G	A	18	7017384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.C2702T:p.A901V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.C2702T:p.A901V;	0.796365898959775	0.582
18	7017383	G	C	18	7017384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.C2702G:p.A901G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.C2702G:p.A901G;	0.00136022066004403	0.124
18	7017383	G	T	18	7017384	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon20:c.C2702A:p.A901D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon20:c.C2702A:p.A901D;	0.00170653649492266	0.04
18	7017384	C	A	18	7017385	y	y	splicing	LAMA1(NM_005559:exon21:c.2702-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2702-1G>T)	.	.	0.999743155434625	0.918
18	7017384	C	G	18	7017385	y	y	splicing	LAMA1(NM_005559:exon21:c.2702-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2702-1G>C)	.	.	0.999743155434625	0.914
18	7017384	C	T	18	7017385	y	y	splicing	LAMA1(NM_005559:exon21:c.2702-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2702-1G>A)	.	.	0.999743155434625	0.92
18	7017385	T	A	18	7017386	y	y	splicing	LAMA1(NM_005559:exon21:c.2702-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2702-2A>T)	.	.	0.999888596551852	0.924
18	7017385	T	C	18	7017386	y	y	splicing	LAMA1(NM_005559:exon21:c.2702-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2702-2A>G)	.	.	0.999888596551852	0.924
18	7017385	T	G	18	7017386	y	y	splicing	LAMA1(NM_005559:exon21:c.2702-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon21:c.2702-2A>C)	.	.	0.999888596551852	0.924
18	7017386	A	C	18	7017387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.175163868791485	0.516
18	7017386	A	G	18	7017387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.21310058807547E-5	0.006
18	7017386	A	T	18	7017387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.018591716908255	0.254
18	7017387	A	C	18	7017388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.97773946583691E-5	0.008
18	7017387	A	G	18	7017388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.97047409726458E-5	0.002
18	7017387	A	T	18	7017388	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.85318472546704E-5	0.016
18	7017388	A	C	18	7017389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.386328270144466	0.468
18	7017388	A	G	18	7017389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.0101933531816E-5	0.076
18	7017388	A	T	18	7017389	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.25107752314072	0.458
18	7017389	C	A	18	7017390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.64808021366792E-6	0.0
18	7017389	C	G	18	7017390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.07689300837416E-5	0.018
18	7017389	C	T	18	7017390	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.29007154825093E-5	0.012
18	7017390	A	C	18	7017391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.58788131116354E-4	0.228
18	7017390	A	G	18	7017391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.80871576509522E-5	0.06
18	7017390	A	T	18	7017391	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.983402985897537	0.908
18	7017391	C	A	18	7017392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.33566418067959E-5	0.088
18	7017391	C	G	18	7017392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.2977335659979E-5	0.044
18	7017391	C	T	18	7017392	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.00823768277824E-4	0.08
18	7017392	A	C	18	7017393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999751423545634	0.908
18	7017392	A	G	18	7017393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.60449660743255E-4	0.07
18	7017392	A	T	18	7017393	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999751423545634	0.898
18	7017393	T	A	18	7017394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.12045736040035E-5	0.01
18	7017393	T	C	18	7017394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.93946106814611E-5	0.006
18	7017393	T	G	18	7017394	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.12045736040035E-5	0.0
18	7017394	G	A	18	7017395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.33032396441557E-5	0.002
18	7017394	G	C	18	7017395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.70041237277566E-4	0.04
18	7017394	G	T	18	7017395	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.96085839516903E-4	0.032
18	7017395	C	A	18	7017396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.94071583457583E-5	0.032
18	7017395	C	G	18	7017396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.94071583457583E-5	0.01
18	7017395	C	T	18	7017396	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.06823667535858E-4	0.012
18	7023155	G	A	18	7023156	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.52932449848953E-5	0.002
18	7023155	G	C	18	7023156	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.22751085239585E-5	0.0
18	7023155	G	T	18	7023156	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.22751085239585E-5	0.002
18	7023156	C	A	18	7023157	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.46041411234563E-4	0.028
18	7023156	C	G	18	7023157	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00173824228183232	0.014
18	7023156	C	T	18	7023157	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0023391170931859	0.012
18	7023157	A	C	18	7023158	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.652128167189094	0.616
18	7023157	A	G	18	7023158	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.408691130911948	0.662
18	7023157	A	T	18	7023158	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.786955515178448	0.734
18	7023158	C	A	18	7023159	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999907002631513	0.884
18	7023158	C	G	18	7023159	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999500092042711	0.99
18	7023158	C	T	18	7023159	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99972023629705	0.904
18	7023159	T	A	18	7023160	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999455530500724	0.916
18	7023159	T	C	18	7023160	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99816982454651	0.95
18	7023159	T	G	18	7023160	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998802995482412	0.906
18	7023160	C	A	18	7023161	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.793810308665338	0.548
18	7023160	C	G	18	7023161	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.989522908612328	0.71
18	7023160	C	T	18	7023161	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.68917110458831E-4	0.01
18	7023161	A	C	18	7023162	y	y	splicing	LAMA1(NM_005559:exon20:c.2701+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2701+2T>G)	.	.	0.999988247793601	0.928
18	7023161	A	G	18	7023162	y	y	splicing	LAMA1(NM_005559:exon20:c.2701+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2701+2T>C)	.	.	0.999943260809542	0.87
18	7023161	A	T	18	7023162	y	y	splicing	LAMA1(NM_005559:exon20:c.2701+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2701+2T>A)	.	.	0.999988247793601	0.928
18	7023162	C	A	18	7023163	y	y	splicing	LAMA1(NM_005559:exon20:c.2701+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2701+1G>T)	.	.	0.999985532734767	0.936
18	7023162	C	G	18	7023163	y	y	splicing	LAMA1(NM_005559:exon20:c.2701+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2701+1G>C)	.	.	0.999985532734767	0.936
18	7023162	C	T	18	7023163	y	y	splicing	LAMA1(NM_005559:exon20:c.2701+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2701+1G>A)	.	.	0.999985532734767	0.936
18	7023163	C	A	18	7023164	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.G2701T:p.A901S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.G2701T:p.A901S;	0.998870603791451	0.938
18	7023163	C	G	18	7023164	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.G2701C:p.A901P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.G2701C:p.A901P;	0.996722090939881	0.754
18	7023163	C	T	18	7023164	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.G2701A:p.A901T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.G2701A:p.A901T;	0.99924411438411	0.972
18	7023164	G	A	18	7023165	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon19:c.C2700T:p.R900R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.C2700T:p.R900R;	2.7245116604527E-4	0.056
18	7023164	G	C	18	7023165	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon19:c.C2700G:p.R900R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.C2700G:p.R900R;	3.75088104199856E-4	0.11
18	7023164	G	T	18	7023165	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon19:c.C2700A:p.R900R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.C2700A:p.R900R;	9.93214958528742E-5	0.058
18	7023165	C	A	18	7023166	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.G2699T:p.R900L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.G2699T:p.R900L;	0.00230670302614477	0.08
18	7023165	C	G	18	7023166	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.G2699C:p.R900P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.G2699C:p.R900P;	0.0011880362595317	0.046
18	7023165	C	T	18	7023166	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.G2699A:p.R900H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.G2699A:p.R900H;	0.00757815106155979	0.23
18	7023373	A	C	18	7023374	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.T2491G:p.C831G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.T2491G:p.C831G;	0.774805033626788	0.462
18	7023373	A	G	18	7023374	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.T2491C:p.C831R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.T2491C:p.C831R;	0.482931194075542	0.428
18	7023373	A	T	18	7023374	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.T2491A:p.C831S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.T2491A:p.C831S;	0.778813293405713	0.498
18	7023374	T	A	18	7023375	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.A2490T:p.R830S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.A2490T:p.R830S;	0.731969496530529	0.482
18	7023374	T	C	18	7023375	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon19:c.A2490G:p.R830R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.A2490G:p.R830R;	0.0020137492463213	0.01
18	7023374	T	G	18	7023375	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon19:c.A2490C:p.R830S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon19:c.A2490C:p.R830S;	0.504437364638261	0.498
18	7023375	C	A	18	7023376	y	y	splicing	LAMA1(NM_005559:exon20:c.2490-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2490-1G>T)	.	.	0.999985532734767	0.944
18	7023375	C	G	18	7023376	y	y	splicing	LAMA1(NM_005559:exon20:c.2490-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2490-1G>C)	.	.	0.999985532734767	0.944
18	7023375	C	T	18	7023376	y	y	splicing	LAMA1(NM_005559:exon20:c.2490-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2490-1G>A)	.	.	0.999985532734767	0.944
18	7023376	T	A	18	7023377	y	y	splicing	LAMA1(NM_005559:exon20:c.2490-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2490-2A>T)	.	.	0.999988247793601	0.934
18	7023376	T	C	18	7023377	y	y	splicing	LAMA1(NM_005559:exon20:c.2490-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2490-2A>G)	.	.	0.999988247793601	0.934
18	7023376	T	G	18	7023377	y	y	splicing	LAMA1(NM_005559:exon20:c.2490-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon20:c.2490-2A>C)	.	.	0.999988247793601	0.934
18	7023377	G	A	18	7023378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00157306081463104	0.072
18	7023377	G	C	18	7023378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999855617845877	0.918
18	7023377	G	T	18	7023378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994008526694798	0.77
18	7023378	T	A	18	7023379	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.23018087234133E-5	0.0
18	7023378	T	C	18	7023379	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.58993723994595E-4	0.122
18	7023378	T	G	18	7023379	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.98525317957993E-5	0.0
18	7023379	A	C	18	7023380	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998719581546087	0.944
18	7023379	A	G	18	7023380	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0393382533294257	0.178
18	7023379	A	T	18	7023380	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.447908640719543	0.602
18	7023380	T	A	18	7023381	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.6599054775984E-4	0.072
18	7023380	T	C	18	7023381	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.01739953090314E-5	0.022
18	7023380	T	G	18	7023381	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.31621872482055E-4	0.012
18	7023381	C	A	18	7023382	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.7644816605464E-5	0.006
18	7023381	C	G	18	7023382	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.32969408616466E-5	0.0
18	7023381	C	T	18	7023382	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.17551982042446E-4	0.0
18	7023382	A	C	18	7023383	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00488166014983831	0.25
18	7023382	A	G	18	7023383	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.87064307359857E-4	0.004
18	7023382	A	T	18	7023383	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999955540750496	0.918
18	7023383	A	C	18	7023384	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00846459315091343	0.436
18	7023383	A	G	18	7023384	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.1679448072505E-4	0.102
18	7023383	A	T	18	7023384	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0851194848488981	0.416
18	7023384	A	C	18	7023385	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0652411909042934	0.56
18	7023384	A	G	18	7023385	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00367298057450212	0.116
18	7023384	A	T	18	7023385	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.38890910647813	0.628
18	7023385	G	A	18	7023386	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00123027708179245	0.094
18	7023385	G	C	18	7023386	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0102307669744446	0.126
18	7023385	G	T	18	7023386	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0821279065306532	0.236
18	7023386	A	C	18	7023387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999935548357585	0.956
18	7023386	A	G	18	7023387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00154141999454265	0.138
18	7023386	A	T	18	7023387	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0797681674744189	0.556
18	7024371	C	A	18	7024372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.06330654562889E-4	0.044
18	7024371	C	G	18	7024372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.51037613127189E-4	0.066
18	7024371	C	T	18	7024372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00106211911192653	0.028
18	7024372	A	C	18	7024373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97978205410496E-4	0.0
18	7024372	A	G	18	7024373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.6078378219293E-4	0.002
18	7024372	A	T	18	7024373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.4156885901322E-4	0.0
18	7024373	G	A	18	7024374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.3186653944077E-5	0.006
18	7024373	G	C	18	7024374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.03192353194681E-5	0.016
18	7024373	G	T	18	7024374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.17679402544528E-4	0.0
18	7024374	A	C	18	7024375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.67249034033604E-4	0.028
18	7024374	A	G	18	7024375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.65953349945209E-4	0.02
18	7024374	A	T	18	7024375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.79710408386082E-4	0.02
18	7024375	G	A	18	7024376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.90187224911508E-4	0.064
18	7024375	G	C	18	7024376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.48697901282035E-4	0.094
18	7024375	G	T	18	7024376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.44089257144428E-5	0.084
18	7024376	T	A	18	7024377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999968929144971	0.96
18	7024376	T	C	18	7024377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999599298496113	0.936
18	7024376	T	G	18	7024377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999960462937115	0.956
18	7024377	A	C	18	7024378	y	y	splicing	LAMA1(NM_005559:exon19:c.2489+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2489+2T>G)	.	.	0.999988247793601	0.942
18	7024377	A	G	18	7024378	y	y	splicing	LAMA1(NM_005559:exon19:c.2489+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2489+2T>C)	.	.	0.996218475494576	0.7
18	7024377	A	T	18	7024378	y	y	splicing	LAMA1(NM_005559:exon19:c.2489+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2489+2T>A)	.	.	0.999988247793601	0.942
18	7024378	C	A	18	7024379	y	y	splicing	LAMA1(NM_005559:exon19:c.2489+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2489+1G>T)	.	.	0.999990361384395	0.942
18	7024378	C	G	18	7024379	y	y	splicing	LAMA1(NM_005559:exon19:c.2489+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2489+1G>C)	.	.	0.999990361384395	0.942
18	7024378	C	T	18	7024379	y	y	splicing	LAMA1(NM_005559:exon19:c.2489+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2489+1G>A)	.	.	0.999990361384395	0.942
18	7024379	C	A	18	7024380	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.G2489T:p.R830I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.G2489T:p.R830I;	0.999994342005323	1.0
18	7024379	C	G	18	7024380	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.G2489C:p.R830T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.G2489C:p.R830T;	0.999996642362123	1.0
18	7024379	C	T	18	7024380	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.G2489A:p.R830K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.G2489A:p.R830K;	0.999995468068251	1.0
18	7024380	T	A	18	7024381	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon18:c.A2488T:p.R830X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon18:c.A2488T:p.R830X;	0.999983356373639	0.992
18	7024380	T	C	18	7024381	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.A2488G:p.R830G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.A2488G:p.R830G;	0.999981048689342	0.998
18	7024380	T	G	18	7024381	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon18:c.A2488C:p.R830R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.A2488C:p.R830R;	0.999720041470986	0.994
18	7024381	C	A	18	7024382	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.G2487T:p.E829D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.G2487T:p.E829D;	0.178213956023725	0.214
18	7024381	C	G	18	7024382	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.G2487C:p.E829D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.G2487C:p.E829D;	7.66239874830128E-4	0.016
18	7024381	C	T	18	7024382	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon18:c.G2487A:p.E829E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.G2487A:p.E829E;	0.00190170822264028	0.042
18	7024464	A	C	18	7024465	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.T2404G:p.F802V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.T2404G:p.F802V;	0.936351933874956	0.52
18	7024464	A	G	18	7024465	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.T2404C:p.F802L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.T2404C:p.F802L;	0.947191300132581	0.59
18	7024464	A	T	18	7024465	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.T2404A:p.F802I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.T2404A:p.F802I;	0.932090239496712	0.61
18	7024465	A	C	18	7024466	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.T2403G:p.N801K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.T2403G:p.N801K;	3.92295424538942E-4	0.322
18	7024465	A	G	18	7024466	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon18:c.T2403C:p.N801N;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.T2403C:p.N801N;	0.00195191330857598	0.268
18	7024465	A	T	18	7024466	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon18:c.T2403A:p.N801K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon18:c.T2403A:p.N801K;	1.0244223125905E-4	0.232
18	7024466	C	A	18	7024467	y	y	splicing	LAMA1(NM_005559:exon19:c.2403-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2403-1G>T)	.	.	0.999990361384395	0.942
18	7024466	C	G	18	7024467	y	y	splicing	LAMA1(NM_005559:exon19:c.2403-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2403-1G>C)	.	.	0.999990361384395	0.942
18	7024466	C	T	18	7024467	y	y	splicing	LAMA1(NM_005559:exon19:c.2403-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2403-1G>A)	.	.	0.999990361384395	0.942
18	7024467	T	A	18	7024468	y	y	splicing	LAMA1(NM_005559:exon19:c.2403-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2403-2A>T)	.	.	0.999988247793601	0.942
18	7024467	T	C	18	7024468	y	y	splicing	LAMA1(NM_005559:exon19:c.2403-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2403-2A>G)	.	.	0.999988247793601	0.942
18	7024467	T	G	18	7024468	y	y	splicing	LAMA1(NM_005559:exon19:c.2403-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon19:c.2403-2A>C)	.	.	0.999988247793601	0.942
18	7024468	G	A	18	7024469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0203921828443601	0.262
18	7024468	G	C	18	7024469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999077096955988	0.666
18	7024468	G	T	18	7024469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.993946383581153	0.864
18	7024469	T	A	18	7024470	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.51339134003471E-5	0.108
18	7024469	T	C	18	7024470	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.07196902644292E-4	0.028
18	7024469	T	G	18	7024470	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.00541574025476E-4	0.118
18	7024470	C	A	18	7024471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.10028134610954E-5	0.008
18	7024470	C	G	18	7024471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.96606700664524E-5	0.002
18	7024470	C	T	18	7024471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.17145789753721E-4	0.004
18	7024471	A	C	18	7024472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.015673511062776	0.36
18	7024471	A	G	18	7024472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.7150334225132E-5	0.02
18	7024471	A	T	18	7024472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999980648971225	0.98
18	7024472	A	C	18	7024473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0013626894384472	0.106
18	7024472	A	G	18	7024473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.65998096205331E-4	0.056
18	7024472	A	T	18	7024473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0431811049353725	0.438
18	7024473	A	C	18	7024474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.002953065446906	0.274
18	7024473	A	G	18	7024474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.09536619150037E-5	0.0
18	7024473	A	T	18	7024474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0305390566004541	0.292
18	7024474	A	C	18	7024475	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00485617991232472	0.156
18	7024474	A	G	18	7024475	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.96453278754898E-4	0.008
18	7024474	A	T	18	7024475	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0156913618328112	0.194
18	7024475	C	A	18	7024476	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.16274336643086E-5	0.0
18	7024475	C	G	18	7024476	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.230898211058E-5	0.0
18	7024475	C	T	18	7024476	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.01111754780665E-4	0.02
18	7024476	A	C	18	7024477	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999910145129271	0.968
18	7024476	A	G	18	7024477	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00650638654339465	0.102
18	7024476	A	T	18	7024477	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999902689073374	0.978
18	7024477	T	A	18	7024478	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.40124622243858E-5	0.02
18	7024477	T	C	18	7024478	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992530358762403	0.94
18	7024477	T	G	18	7024478	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.22671994044775E-5	0.0
18	7025970	A	C	18	7025971	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.0030960233099E-4	0.008
18	7025970	A	G	18	7025971	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.0339478167547E-5	0.006
18	7025970	A	T	18	7025971	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.0030960233099E-4	0.008
18	7025971	G	A	18	7025972	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.19121077944198E-5	0.002
18	7025971	G	C	18	7025972	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.95448509927641E-5	0.002
18	7025971	G	T	18	7025972	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.7106675465155E-5	0.002
18	7025972	G	A	18	7025973	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.09806081283231E-5	0.0
18	7025972	G	C	18	7025973	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.99834592851606E-5	0.016
18	7025972	G	T	18	7025973	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.91034519332782E-4	0.002
18	7025973	C	A	18	7025974	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999966161485742	0.888
18	7025973	C	G	18	7025974	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999524375000065	0.996
18	7025973	C	T	18	7025974	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999924084050573	0.98
18	7025974	T	A	18	7025975	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.987118338826608	0.756
18	7025974	T	C	18	7025975	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.989206789748231	0.812
18	7025974	T	G	18	7025975	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.977123231600581	0.618
18	7025975	T	A	18	7025976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999868749337363	0.972
18	7025975	T	C	18	7025976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.413466727317938	0.446
18	7025975	T	G	18	7025976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999856990510344	0.922
18	7025976	A	C	18	7025977	y	y	splicing	LAMA1(NM_005559:exon18:c.2402+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2402+2T>G)	.	.	0.999988247793601	0.928
18	7025976	A	G	18	7025977	y	y	splicing	LAMA1(NM_005559:exon18:c.2402+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2402+2T>C)	.	.	0.99340600729494	0.656
18	7025976	A	T	18	7025977	y	y	splicing	LAMA1(NM_005559:exon18:c.2402+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2402+2T>A)	.	.	0.999988247793601	0.928
18	7025977	C	A	18	7025978	y	y	splicing	LAMA1(NM_005559:exon18:c.2402+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2402+1G>T)	.	.	0.999981760802075	0.938
18	7025977	C	G	18	7025978	y	y	splicing	LAMA1(NM_005559:exon18:c.2402+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2402+1G>C)	.	.	0.999981760802075	0.938
18	7025977	C	T	18	7025978	y	y	splicing	LAMA1(NM_005559:exon18:c.2402+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2402+1G>A)	.	.	0.999981760802075	0.938
18	7025978	T	A	18	7025979	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.A2402T:p.N801I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.A2402T:p.N801I;	0.843476545024321	0.622
18	7025978	T	C	18	7025979	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.A2402G:p.N801S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.A2402G:p.N801S;	0.25185577086086	0.362
18	7025978	T	G	18	7025979	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.A2402C:p.N801T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.A2402C:p.N801T;	0.600785433544235	0.728
18	7025979	T	A	18	7025980	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.A2401T:p.N801Y;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.A2401T:p.N801Y;	0.999667161809389	0.992
18	7025979	T	C	18	7025980	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.A2401G:p.N801D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.A2401G:p.N801D;	0.999355229777171	0.962
18	7025979	T	G	18	7025980	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.A2401C:p.N801H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.A2401C:p.N801H;	0.999320137798181	0.974
18	7025980	G	A	18	7025981	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon17:c.C2400T:p.N800N;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.C2400T:p.N800N;	0.998906866006266	0.896
18	7025980	G	C	18	7025981	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.C2400G:p.N800K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.C2400G:p.N800K;	0.861583651918787	0.674
18	7025980	G	T	18	7025981	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.C2400A:p.N800K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.C2400A:p.N800K;	0.951981852007004	0.82
18	7026104	G	A	18	7026105	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.C2276T:p.A759V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.C2276T:p.A759V;	6.98831453899643E-5	0.0
18	7026104	G	C	18	7026105	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.C2276G:p.A759G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.C2276G:p.A759G;	3.94078124737637E-5	0.014
18	7026104	G	T	18	7026105	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.C2276A:p.A759E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.C2276A:p.A759E;	8.42653876307524E-4	0.03
18	7026105	C	A	18	7026106	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.G2275T:p.A759S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.G2275T:p.A759S;	0.639766544002291	0.548
18	7026105	C	G	18	7026106	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.G2275C:p.A759P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.G2275C:p.A759P;	0.991425260685204	0.872
18	7026105	C	T	18	7026106	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon17:c.G2275A:p.A759T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon17:c.G2275A:p.A759T;	0.0220445894406131	0.32
18	7026106	C	A	18	7026107	y	y	splicing	LAMA1(NM_005559:exon18:c.2275-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2275-1G>T)	.	.	0.999916487880886	0.92
18	7026106	C	G	18	7026107	y	y	splicing	LAMA1(NM_005559:exon18:c.2275-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2275-1G>C)	.	.	0.999945520654368	0.92
18	7026106	C	T	18	7026107	y	y	splicing	LAMA1(NM_005559:exon18:c.2275-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2275-1G>A)	.	.	0.999916487880886	0.928
18	7026107	T	A	18	7026108	y	y	splicing	LAMA1(NM_005559:exon18:c.2275-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2275-2A>T)	.	.	0.999964896440643	0.908
18	7026107	T	C	18	7026108	y	y	splicing	LAMA1(NM_005559:exon18:c.2275-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2275-2A>G)	.	.	0.999964896440643	0.908
18	7026107	T	G	18	7026108	y	y	splicing	LAMA1(NM_005559:exon18:c.2275-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon18:c.2275-2A>C)	.	.	0.999964896440643	0.908
18	7026108	A	C	18	7026109	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996224160684565	0.726
18	7026108	A	G	18	7026109	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.71431266664392E-4	0.018
18	7026108	A	T	18	7026109	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.764661975665743	0.502
18	7026109	G	A	18	7026110	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.06287879454644E-5	0.036
18	7026109	G	C	18	7026110	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.06616228567215E-4	0.028
18	7026109	G	T	18	7026110	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.06287879454644E-5	0.04
18	7026110	G	A	18	7026111	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.1500963705853E-5	0.042
18	7026110	G	C	18	7026111	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0255404137496394	0.186
18	7026110	G	T	18	7026111	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00107294245099486	0.116
18	7026111	A	C	18	7026112	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00502854848782364	0.296
18	7026111	A	G	18	7026112	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.23984050340123E-5	0.066
18	7026111	A	T	18	7026112	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00456786150327413	0.274
18	7026112	A	C	18	7026113	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00776170890050372	0.178
18	7026112	A	G	18	7026113	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.45368150974981E-4	0.022
18	7026112	A	T	18	7026113	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.055086423768047	0.284
18	7026113	C	A	18	7026114	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.34780054379079E-5	0.022
18	7026113	C	G	18	7026114	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.39210010718104E-5	0.0
18	7026113	C	T	18	7026114	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0040797300527075	0.008
18	7026114	A	C	18	7026115	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999921094677747	0.97
18	7026114	A	G	18	7026115	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00531720862939331	0.112
18	7026114	A	T	18	7026115	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999921094677747	0.962
18	7026115	T	A	18	7026116	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.72574789847114E-5	0.008
18	7026115	T	C	18	7026116	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.1160307466939E-5	0.002
18	7026115	T	G	18	7026116	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.72574789847114E-5	0.002
18	7026116	G	A	18	7026117	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.27344805056654E-5	0.0
18	7026116	G	C	18	7026117	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00413820858041244	0.068
18	7026116	G	T	18	7026117	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00403748674419515	0.048
18	7026117	C	A	18	7026118	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.22428046165093E-4	0.028
18	7026117	C	G	18	7026118	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.22428046165093E-4	0.006
18	7026117	C	T	18	7026118	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.44702470820124E-4	0.016
18	7032057	A	C	18	7032058	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.64907347275859E-4	0.046
18	7032057	A	G	18	7032058	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.44875152425433E-4	0.002
18	7032057	A	T	18	7032058	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.06653796248022E-4	0.024
18	7032058	G	A	18	7032059	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00144400248513386	0.028
18	7032058	G	C	18	7032059	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26000088175163E-4	0.004
18	7032058	G	T	18	7032059	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.01675113631845E-4	0.002
18	7032059	A	C	18	7032060	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.952871727440774	0.77
18	7032059	A	G	18	7032060	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.984968549555797	0.87
18	7032059	A	T	18	7032060	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.989657223916707	0.722
18	7032060	C	A	18	7032061	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999940802763737	0.924
18	7032060	C	G	18	7032061	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999966444258499	0.92
18	7032060	C	T	18	7032061	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999957930919087	0.936
18	7032061	T	A	18	7032062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998643231720735	0.842
18	7032061	T	C	18	7032062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997903223093452	0.87
18	7032061	T	G	18	7032062	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.990987653528332	0.818
18	7032062	C	A	18	7032063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997767230526212	0.666
18	7032062	C	G	18	7032063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997823981488597	0.724
18	7032062	C	T	18	7032063	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.48470362423728E-4	0.002
18	7032063	A	C	18	7032064	y	y	splicing	LAMA1(NM_005559:exon17:c.2274+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2274+2T>G)	.	.	0.999966203349492	0.94
18	7032063	A	G	18	7032064	y	y	splicing	LAMA1(NM_005559:exon17:c.2274+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2274+2T>C)	.	.	0.999806097430435	0.942
18	7032063	A	T	18	7032064	y	y	splicing	LAMA1(NM_005559:exon17:c.2274+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2274+2T>A)	.	.	0.999966203349492	0.936
18	7032064	C	A	18	7032065	y	y	splicing	LAMA1(NM_005559:exon17:c.2274+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2274+1G>T)	.	.	0.999915710762489	0.936
18	7032064	C	G	18	7032065	y	y	splicing	LAMA1(NM_005559:exon17:c.2274+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2274+1G>C)	.	.	0.999915710762489	0.946
18	7032064	C	T	18	7032065	y	y	splicing	LAMA1(NM_005559:exon17:c.2274+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2274+1G>A)	.	.	0.999915710762489	0.936
18	7032065	A	C	18	7032066	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.T2274G:p.I758M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2274G:p.I758M;	7.37691115532512E-4	0.114
18	7032065	A	G	18	7032066	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon16:c.T2274C:p.I758I;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2274C:p.I758I;	0.00355236640201926	0.352
18	7032065	A	T	18	7032066	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon16:c.T2274A:p.I758I;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2274A:p.I758I;	3.47130291266029E-4	0.026
18	7032066	A	C	18	7032067	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.T2273G:p.I758S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2273G:p.I758S;	4.71931021564927E-4	0.122
18	7032066	A	G	18	7032067	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.T2273C:p.I758T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2273C:p.I758T;	1.8397901465023E-4	0.06
18	7032066	A	T	18	7032067	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.T2273A:p.I758N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2273A:p.I758N;	6.50505820624974E-6	0.082
18	7032067	T	A	18	7032068	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.A2272T:p.I758F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.A2272T:p.I758F;	0.0568420416078947	0.402
18	7032067	T	C	18	7032068	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.A2272G:p.I758V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.A2272G:p.I758V;	0.0064432169310104	0.076
18	7032067	T	G	18	7032068	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.A2272C:p.I758L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.A2272C:p.I758L;	8.02095418970784E-5	0.0
18	7032174	G	A	18	7032175	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.C2165T:p.S722L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.C2165T:p.S722L;	1.24820620994591E-5	0.088
18	7032174	G	C	18	7032175	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.C2165G:p.S722W;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.C2165G:p.S722W;	7.04335688612386E-5	0.062
18	7032174	G	T	18	7032175	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon16:c.C2165A:p.S722X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon16:c.C2165A:p.S722X;	0.029907888920596	0.282
18	7032175	A	C	18	7032176	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.T2164G:p.S722A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2164G:p.S722A;	5.28974391966015E-4	0.244
18	7032175	A	G	18	7032176	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.T2164C:p.S722P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2164C:p.S722P;	5.47809733656751E-5	0.02
18	7032175	A	T	18	7032176	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon16:c.T2164A:p.S722T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon16:c.T2164A:p.S722T;	5.85728362848363E-5	0.0
18	7032176	C	A	18	7032177	y	y	splicing	LAMA1(NM_005559:exon17:c.2164-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2164-1G>T)	.	.	0.99993314117114	0.932
18	7032176	C	G	18	7032177	y	y	splicing	LAMA1(NM_005559:exon17:c.2164-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2164-1G>C)	.	.	0.99993314117114	0.934
18	7032176	C	T	18	7032177	y	y	splicing	LAMA1(NM_005559:exon17:c.2164-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2164-1G>A)	.	.	0.99993314117114	0.928
18	7032177	T	A	18	7032178	y	y	splicing	LAMA1(NM_005559:exon17:c.2164-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2164-2A>T)	.	.	0.99994568797423	0.926
18	7032177	T	C	18	7032178	y	y	splicing	LAMA1(NM_005559:exon17:c.2164-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2164-2A>G)	.	.	0.999946188727699	0.914
18	7032177	T	G	18	7032178	y	y	splicing	LAMA1(NM_005559:exon17:c.2164-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon17:c.2164-2A>C)	.	.	0.99994568797423	0.926
18	7032178	G	A	18	7032179	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0173984096499027	0.146
18	7032178	G	C	18	7032179	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99969117236238	0.882
18	7032178	G	T	18	7032179	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99662176232794	0.722
18	7032179	C	A	18	7032180	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10543926199271E-4	0.0
18	7032179	C	G	18	7032180	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.17010526692761E-5	0.0
18	7032179	C	T	18	7032180	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.34016951430817E-5	0.0
18	7032180	A	C	18	7032181	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0474614220369688	0.45
18	7032180	A	G	18	7032181	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0338722140101357	0.146
18	7032180	A	T	18	7032181	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999893765105442	0.946
18	7032181	A	C	18	7032182	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00272152688098101	0.136
18	7032181	A	G	18	7032182	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.35339485165524E-4	0.012
18	7032181	A	T	18	7032182	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00977412836201311	0.186
18	7032182	G	A	18	7032183	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.39008942521185E-5	0.0
18	7032182	G	C	18	7032183	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.88925571462551E-4	0.022
18	7032182	G	T	18	7032183	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.22907858641298E-4	0.03
18	7032183	A	C	18	7032184	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.30311619435106E-4	0.084
18	7032183	A	G	18	7032184	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.09720084380221E-5	0.014
18	7032183	A	T	18	7032184	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.96251339692815E-4	0.054
18	7032184	G	A	18	7032185	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.1398551676405E-5	0.0
18	7032184	G	C	18	7032185	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.06556702554228E-4	0.036
18	7032184	G	T	18	7032185	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.87735142766961E-4	0.062
18	7032185	A	C	18	7032186	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0145337551610681	0.17
18	7032185	A	G	18	7032186	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.12655721647807E-4	0.004
18	7032185	A	T	18	7032186	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00581661465676114	0.166
18	7032186	A	C	18	7032187	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00313520602969279	0.2
18	7032186	A	G	18	7032187	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00109396614946736	0.116
18	7032186	A	T	18	7032187	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00105555266592248	0.162
18	7032187	G	A	18	7032188	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.91683211707006E-5	0.0
18	7032187	G	C	18	7032188	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.62688655246976E-4	0.07
18	7032187	G	T	18	7032188	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.08239895641823E-4	0.036
18	7032975	A	C	18	7032976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.43518852824099E-4	0.034
18	7032975	A	G	18	7032976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.33800006769911E-4	0.006
18	7032975	A	T	18	7032976	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.3617915989914E-5	0.004
18	7032976	G	A	18	7032977	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.07717147808873E-4	0.038
18	7032976	G	C	18	7032977	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00116743928164846	0.03
18	7032976	G	T	18	7032977	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.36392720238571E-4	0.032
18	7032977	C	A	18	7032978	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.01285627262415E-5	0.0
18	7032977	C	G	18	7032978	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.12983992789782E-5	0.018
18	7032977	C	T	18	7032978	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.37227528946746E-4	0.052
18	7032978	G	A	18	7032979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.40865341333985E-4	0.008
18	7032978	G	C	18	7032979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.94007107956661E-4	0.002
18	7032978	G	T	18	7032979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.11878869064309E-4	0.028
18	7032979	T	A	18	7032980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995391265808864	0.736
18	7032979	T	C	18	7032980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997508062680217	0.764
18	7032979	T	G	18	7032980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.963240217558941	0.582
18	7032980	C	A	18	7032981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.990135361795239	0.582
18	7032980	C	G	18	7032981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99117548270401	0.622
18	7032980	C	T	18	7032981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.59777233078426E-4	0.082
18	7032981	A	C	18	7032982	y	y	splicing	LAMA1(NM_005559:exon16:c.2163+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2163+2T>G)	.	.	0.999976519124879	0.908
18	7032981	A	G	18	7032982	y	y	splicing	LAMA1(NM_005559:exon16:c.2163+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2163+2T>C)	.	.	0.999696655010851	0.864
18	7032981	A	T	18	7032982	y	y	splicing	LAMA1(NM_005559:exon16:c.2163+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2163+2T>A)	.	.	0.999976519124879	0.908
18	7032982	C	A	18	7032983	y	y	splicing	LAMA1(NM_005559:exon16:c.2163+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2163+1G>T)	.	.	0.999982627682474	0.914
18	7032982	C	G	18	7032983	y	y	splicing	LAMA1(NM_005559:exon16:c.2163+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2163+1G>C)	.	.	0.999982627682474	0.914
18	7032982	C	T	18	7032983	y	y	splicing	LAMA1(NM_005559:exon16:c.2163+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2163+1G>A)	.	.	0.999982627682474	0.914
18	7032983	C	A	18	7032984	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.G2163T:p.E721D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.G2163T:p.E721D;	0.999973497197109	0.996
18	7032983	C	G	18	7032984	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.G2163C:p.E721D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.G2163C:p.E721D;	0.999994456729324	1.0
18	7032983	C	T	18	7032984	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon15:c.G2163A:p.E721E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.G2163A:p.E721E;	0.999992316028991	0.996
18	7032984	T	A	18	7032985	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.A2162T:p.E721V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.A2162T:p.E721V;	0.999858480423819	0.99
18	7032984	T	C	18	7032985	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.A2162G:p.E721G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.A2162G:p.E721G;	0.999914402842495	0.992
18	7032984	T	G	18	7032985	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.A2162C:p.E721A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.A2162C:p.E721A;	0.999825377392123	0.992
18	7032985	C	A	18	7032986	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon15:c.G2161T:p.E721X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon15:c.G2161T:p.E721X;	0.994908735536046	0.762
18	7032985	C	G	18	7032986	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.G2161C:p.E721Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.G2161C:p.E721Q;	0.977190638185931	0.82
18	7032985	C	T	18	7032986	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.G2161A:p.E721K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.G2161A:p.E721K;	0.974482987342557	0.832
18	7033093	A	C	18	7033094	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.T2053G:p.L685V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.T2053G:p.L685V;	9.49917361072759E-5	0.106
18	7033093	A	G	18	7033094	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon15:c.T2053C:p.L685L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.T2053C:p.L685L;	0.00270565445979638	0.048
18	7033093	A	T	18	7033094	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.T2053A:p.L685M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.T2053A:p.L685M;	7.80287142718487E-5	0.082
18	7033094	C	A	18	7033095	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.G2052T:p.R684S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.G2052T:p.R684S;	0.994954748465639	0.946
18	7033094	C	G	18	7033095	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon15:c.G2052C:p.R684S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.G2052C:p.R684S;	0.991644904572011	0.892
18	7033094	C	T	18	7033095	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon15:c.G2052A:p.R684R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon15:c.G2052A:p.R684R;	0.0400958455472498	0.33
18	7033095	C	A	18	7033096	y	y	splicing	LAMA1(NM_005559:exon16:c.2052-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2052-1G>T)	.	.	0.999990361384395	0.936
18	7033095	C	G	18	7033096	y	y	splicing	LAMA1(NM_005559:exon16:c.2052-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2052-1G>C)	.	.	0.999990361384395	0.936
18	7033095	C	T	18	7033096	y	y	splicing	LAMA1(NM_005559:exon16:c.2052-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2052-1G>A)	.	.	0.999990361384395	0.936
18	7033096	T	A	18	7033097	y	y	splicing	LAMA1(NM_005559:exon16:c.2052-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2052-2A>T)	.	.	0.999988247793601	0.93
18	7033096	T	C	18	7033097	y	y	splicing	LAMA1(NM_005559:exon16:c.2052-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2052-2A>G)	.	.	0.999978952611685	0.93
18	7033096	T	G	18	7033097	y	y	splicing	LAMA1(NM_005559:exon16:c.2052-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon16:c.2052-2A>C)	.	.	0.999978952611685	0.932
18	7033097	A	C	18	7033098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.838290025760342	0.634
18	7033097	A	G	18	7033098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.20357121276343E-5	0.008
18	7033097	A	T	18	7033098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.41437439383614E-4	0.168
18	7033098	C	A	18	7033099	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15702084419041E-5	0.0
18	7033098	C	G	18	7033099	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.67827946788037E-6	0.0
18	7033098	C	T	18	7033099	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.83411387378935E-5	0.0
18	7033099	A	C	18	7033100	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.178660483599148	0.274
18	7033099	A	G	18	7033100	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97195205650733E-4	0.0
18	7033099	A	T	18	7033100	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99809290573623	0.908
18	7033100	A	C	18	7033101	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00659383853243545	0.314
18	7033100	A	G	18	7033101	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.34946922602338E-4	0.0
18	7033100	A	T	18	7033101	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0112158811584567	0.294
18	7033101	A	C	18	7033102	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999939334733913	0.98
18	7033101	A	G	18	7033102	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.71693338061842E-4	0.03
18	7033101	A	T	18	7033102	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.205856654364216	0.214
18	7033102	T	A	18	7033103	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.43099908483724E-5	0.0
18	7033102	T	C	18	7033103	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.08938640100209E-5	0.002
18	7033102	T	G	18	7033103	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.61787406977618E-5	0.006
18	7033103	A	C	18	7033104	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0502110923013733	0.264
18	7033103	A	G	18	7033104	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.00490577131127E-4	0.004
18	7033103	A	T	18	7033104	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0669526494503562	0.288
18	7033104	G	A	18	7033105	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.17414594119525E-5	0.016
18	7033104	G	C	18	7033105	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.85440324079629E-4	0.03
18	7033104	G	T	18	7033105	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00351071785613634	0.096
18	7033105	A	C	18	7033106	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.45060042360935	0.334
18	7033105	A	G	18	7033106	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00165318659790198	0.02
18	7033105	A	T	18	7033106	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.673096563411259	0.358
18	7033106	C	A	18	7033107	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.98558388195921E-5	0.008
18	7033106	C	G	18	7033107	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.45828262027425E-5	0.006
18	7033106	C	T	18	7033107	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.78579444906996E-5	0.004
18	7034470	A	C	18	7034471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.85353709924517E-4	0.004
18	7034470	A	G	18	7034471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.67894152125472E-4	0.008
18	7034470	A	T	18	7034471	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.3752294365295E-4	0.036
18	7034471	T	A	18	7034472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.9294890223587E-5	0.016
18	7034471	T	C	18	7034472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.53166092505814E-5	0.0
18	7034471	T	G	18	7034472	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.2331471065878E-4	0.0
18	7034472	A	C	18	7034473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.365169409834E-4	0.16
18	7034472	A	G	18	7034473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00961169582516208	0.258
18	7034472	A	T	18	7034473	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00685581034340941	0.21
18	7034473	C	A	18	7034474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.92579393070788	0.764
18	7034473	C	G	18	7034474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.821425204457888	0.604
18	7034473	C	T	18	7034474	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.983469744135836	0.592
18	7034474	A	C	18	7034475	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.20638349991754E-5	0.01
18	7034474	A	G	18	7034475	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.21585938585243E-5	0.008
18	7034474	A	T	18	7034475	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.34158114378939E-5	0.018
18	7034475	T	A	18	7034476	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.888592316207642	0.55
18	7034475	T	C	18	7034476	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0518189618068529	0.426
18	7034475	T	G	18	7034476	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.94091617469577	0.58
18	7034476	A	C	18	7034477	y	y	splicing	LAMA1(NM_005559:exon15:c.2051+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.2051+2T>G)	.	.	0.999878793238818	0.894
18	7034476	A	G	18	7034477	y	y	splicing	LAMA1(NM_005559:exon15:c.2051+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.2051+2T>C)	.	.	0.956598143273338	0.566
18	7034476	A	T	18	7034477	y	y	splicing	LAMA1(NM_005559:exon15:c.2051+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.2051+2T>A)	.	.	0.999878793238818	0.892
18	7034477	C	A	18	7034478	y	y	splicing	LAMA1(NM_005559:exon15:c.2051+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.2051+1G>T)	.	.	0.999990361384395	0.936
18	7034477	C	G	18	7034478	y	y	splicing	LAMA1(NM_005559:exon15:c.2051+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.2051+1G>C)	.	.	0.999990361384395	0.936
18	7034477	C	T	18	7034478	y	y	splicing	LAMA1(NM_005559:exon15:c.2051+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.2051+1G>A)	.	.	0.999990361384395	0.936
18	7034478	C	A	18	7034479	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.G2051T:p.R684M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.G2051T:p.R684M;	0.999985007705141	0.994
18	7034478	C	G	18	7034479	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.G2051C:p.R684T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.G2051C:p.R684T;	0.999968332219966	0.964
18	7034478	C	T	18	7034479	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.G2051A:p.R684K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.G2051A:p.R684K;	0.999960824517021	0.984
18	7034479	T	A	18	7034480	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.A2050T:p.R684W;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.A2050T:p.R684W;	0.995076675524045	0.874
18	7034479	T	C	18	7034480	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.A2050G:p.R684G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.A2050G:p.R684G;	0.996569705915741	0.94
18	7034479	T	G	18	7034480	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon14:c.A2050C:p.R684R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.A2050C:p.R684R;	0.900298916045061	0.74
18	7034480	G	A	18	7034481	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon14:c.C2049T:p.Y683Y;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.C2049T:p.Y683Y;	0.035609632392675	0.402
18	7034480	G	C	18	7034481	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon14:c.C2049G:p.Y683X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon14:c.C2049G:p.Y683X;	0.00387155363002184	0.296
18	7034480	G	T	18	7034481	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon14:c.C2049A:p.Y683X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon14:c.C2049A:p.Y683X;	0.0107807043399687	0.35
18	7034688	C	A	18	7034689	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.G1841T:p.G614V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.G1841T:p.G614V;	0.980738302444458	0.864
18	7034688	C	G	18	7034689	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.G1841C:p.G614A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.G1841C:p.G614A;	0.981397865547077	0.822
18	7034688	C	T	18	7034689	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.G1841A:p.G614E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.G1841A:p.G614E;	0.989378422970321	0.852
18	7034689	C	A	18	7034690	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon14:c.G1840T:p.G614X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon14:c.G1840T:p.G614X;	0.999138461212408	0.974
18	7034689	C	G	18	7034690	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.G1840C:p.G614R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.G1840C:p.G614R;	0.999201845496461	0.974
18	7034689	C	T	18	7034690	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon14:c.G1840A:p.G614R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon14:c.G1840A:p.G614R;	0.981744725375578	0.808
18	7034690	C	A	18	7034691	y	y	splicing	LAMA1(NM_005559:exon15:c.1840-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.1840-1G>T)	.	.	0.999987886496584	0.952
18	7034690	C	G	18	7034691	y	y	splicing	LAMA1(NM_005559:exon15:c.1840-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.1840-1G>C)	.	.	0.999987886496584	0.952
18	7034690	C	T	18	7034691	y	y	splicing	LAMA1(NM_005559:exon15:c.1840-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.1840-1G>A)	.	.	0.999987886496584	0.95
18	7034691	T	A	18	7034692	y	y	splicing	LAMA1(NM_005559:exon15:c.1840-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.1840-2A>T)	.	.	0.999986741007567	0.946
18	7034691	T	C	18	7034692	y	y	splicing	LAMA1(NM_005559:exon15:c.1840-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.1840-2A>G)	.	.	0.999986741007567	0.946
18	7034691	T	G	18	7034692	y	y	splicing	LAMA1(NM_005559:exon15:c.1840-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon15:c.1840-2A>C)	.	.	0.999986741007567	0.946
18	7034692	A	C	18	7034693	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994658352613171	0.71
18	7034692	A	G	18	7034693	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.07919334444393E-4	0.082
18	7034692	A	T	18	7034693	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.24814098828478	0.486
18	7034693	A	C	18	7034694	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00156598742386465	0.028
18	7034693	A	G	18	7034694	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.22878948484673E-4	0.032
18	7034693	A	T	18	7034694	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.78895678798015E-4	0.02
18	7034694	C	A	18	7034695	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00622492149069761	0.096
18	7034694	C	G	18	7034695	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00207531166814827	0.076
18	7034694	C	T	18	7034695	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0161726261527627	0.092
18	7034695	A	C	18	7034696	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999956927956047	0.968
18	7034695	A	G	18	7034696	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.30772231220282E-4	0.036
18	7034695	A	T	18	7034696	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999956927956047	0.968
18	7034696	T	A	18	7034697	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00114916672362637	0.026
18	7034696	T	C	18	7034697	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997864905452421	0.876
18	7034696	T	G	18	7034697	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00100586967814356	0.024
18	7034697	T	A	18	7034698	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.96651288259536E-5	0.022
18	7034697	T	C	18	7034698	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999402998298412	0.956
18	7034697	T	G	18	7034698	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.03898105608014E-4	0.02
18	7034698	T	A	18	7034699	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.93387353588716E-6	0.026
18	7034698	T	C	18	7034699	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.78689126336831E-4	0.03
18	7034698	T	G	18	7034699	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.47783639317098E-5	0.064
18	7034699	A	C	18	7034700	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.62669214950748	0.532
18	7034699	A	G	18	7034700	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00223763894800122	0.198
18	7034699	A	T	18	7034700	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.247705644799996	0.464
18	7034700	A	C	18	7034701	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994405125315043	0.856
18	7034700	A	G	18	7034701	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.853274159520497	0.458
18	7034700	A	T	18	7034701	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99821643726249	0.922
18	7034701	A	C	18	7034702	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.969673263347119	0.798
18	7034701	A	G	18	7034702	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0060176659592322	0.132
18	7034701	A	T	18	7034702	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.974706896171177	0.872
18	7035978	A	C	18	7035979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.86757764834498E-4	0.022
18	7035978	A	G	18	7035979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.78958691012223E-5	0.0
18	7035978	A	T	18	7035979	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.42863973527116E-5	0.0
18	7035979	C	A	18	7035980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00238747618807476	0.038
18	7035979	C	G	18	7035980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.83277102901073E-5	0.0
18	7035979	C	T	18	7035980	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.83277102901073E-5	0.0
18	7035980	A	C	18	7035981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0079609838785799	0.268
18	7035980	A	G	18	7035981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.408025933371371	0.508
18	7035980	A	T	18	7035981	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.461210709324801	0.476
18	7035981	A	C	18	7035982	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.83071179525883E-5	0.086
18	7035981	A	G	18	7035982	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.72133856126776E-5	0.0
18	7035981	A	T	18	7035982	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10904000617856E-4	0.002
18	7035982	T	A	18	7035983	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.992115616088086	0.758
18	7035982	T	C	18	7035983	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.994165713466044	0.75
18	7035982	T	G	18	7035983	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.194865549337488	0.37
18	7035983	C	A	18	7035984	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0160366050381369	0.134
18	7035983	C	G	18	7035984	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00709671446592294	0.158
18	7035983	C	T	18	7035984	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.44854215113813E-5	0.072
18	7035984	A	C	18	7035985	y	y	splicing	LAMA1(NM_005559:exon14:c.1839+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1839+2T>G)	.	.	0.99994568797423	0.96
18	7035984	A	G	18	7035985	y	y	splicing	LAMA1(NM_005559:exon14:c.1839+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1839+2T>C)	.	.	0.999688424215117	0.928
18	7035984	A	T	18	7035985	y	y	splicing	LAMA1(NM_005559:exon14:c.1839+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1839+2T>A)	.	.	0.99994568797423	0.948
18	7035985	C	A	18	7035986	y	y	splicing	LAMA1(NM_005559:exon14:c.1839+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1839+1G>T)	.	.	0.99995545544995	0.942
18	7035985	C	G	18	7035986	y	y	splicing	LAMA1(NM_005559:exon14:c.1839+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1839+1G>C)	.	.	0.99995545544995	0.94
18	7035985	C	T	18	7035986	y	y	splicing	LAMA1(NM_005559:exon14:c.1839+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1839+1G>A)	.	.	0.999982737877662	0.942
18	7035986	C	A	18	7035987	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.G1839T:p.K613N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.G1839T:p.K613N;	0.999993018555097	1.0
18	7035986	C	G	18	7035987	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.G1839C:p.K613N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.G1839C:p.K613N;	0.999998009519537	1.0
18	7035986	C	T	18	7035987	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon13:c.G1839A:p.K613K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.G1839A:p.K613K;	0.999987092742494	0.998
18	7035987	T	A	18	7035988	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.A1838T:p.K613M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.A1838T:p.K613M;	0.999906281086674	0.984
18	7035987	T	C	18	7035988	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.A1838G:p.K613R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.A1838G:p.K613R;	0.999058725616484	0.966
18	7035987	T	G	18	7035988	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.A1838C:p.K613T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.A1838C:p.K613T;	0.986761702813936	0.888
18	7035988	T	A	18	7035989	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon13:c.A1837T:p.K613X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon13:c.A1837T:p.K613X;	0.997029515436557	0.826
18	7035988	T	C	18	7035989	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.A1837G:p.K613E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.A1837G:p.K613E;	3.58519812775162E-4	0.114
18	7035988	T	G	18	7035989	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.A1837C:p.K613Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.A1837C:p.K613Q;	0.00155566177926434	0.026
18	7036086	A	C	18	7036087	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.T1739G:p.L580R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.T1739G:p.L580R;	0.559695298459471	0.42
18	7036086	A	G	18	7036087	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.T1739C:p.L580P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.T1739C:p.L580P;	0.844908008403978	0.48
18	7036086	A	T	18	7036087	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.T1739A:p.L580Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.T1739A:p.L580Q;	0.862041810073044	0.488
18	7036087	G	A	18	7036088	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon13:c.C1738T:p.L580L;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.C1738T:p.L580L;	0.0113243746921398	0.298
18	7036087	G	C	18	7036088	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.C1738G:p.L580V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.C1738G:p.L580V;	0.0585296539320898	0.504
18	7036087	G	T	18	7036088	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon13:c.C1738A:p.L580M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon13:c.C1738A:p.L580M;	0.0388887563078028	0.61
18	7036088	C	A	18	7036089	y	y	splicing	LAMA1(NM_005559:exon14:c.1738-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1738-1G>T)	.	.	0.999990161071044	0.936
18	7036088	C	G	18	7036089	y	y	splicing	LAMA1(NM_005559:exon14:c.1738-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1738-1G>C)	.	.	0.999990161071044	0.936
18	7036088	C	T	18	7036089	y	y	splicing	LAMA1(NM_005559:exon14:c.1738-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1738-1G>A)	.	.	0.999990161071044	0.936
18	7036089	T	A	18	7036090	y	y	splicing	LAMA1(NM_005559:exon14:c.1738-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1738-2A>T)	.	.	0.999992007541056	0.936
18	7036089	T	C	18	7036090	y	y	splicing	LAMA1(NM_005559:exon14:c.1738-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1738-2A>G)	.	.	0.999992007541056	0.936
18	7036089	T	G	18	7036090	y	y	splicing	LAMA1(NM_005559:exon14:c.1738-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon14:c.1738-2A>C)	.	.	0.999992007541056	0.936
18	7036090	G	A	18	7036091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.320661325831377	0.278
18	7036090	G	C	18	7036091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999949002762161	0.934
18	7036090	G	T	18	7036091	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999718145798959	0.93
18	7036091	A	C	18	7036092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.21488495962689E-4	0.054
18	7036091	A	G	18	7036092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.25141012505048E-5	0.072
18	7036091	A	T	18	7036092	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.23494968338491E-4	0.002
18	7036092	A	C	18	7036093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996114532997073	0.722
18	7036092	A	G	18	7036093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0542053102976262	0.312
18	7036092	A	T	18	7036093	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997838502736311	0.76
18	7036093	A	C	18	7036094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999906075266739	0.986
18	7036093	A	G	18	7036094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00224773848608634	0.076
18	7036093	A	T	18	7036094	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.923446523547939	0.758
18	7036094	T	A	18	7036095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.87077052921043E-5	0.0
18	7036094	T	C	18	7036095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.97906819779459E-4	0.026
18	7036094	T	G	18	7036095	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.20462237133157E-5	0.026
18	7036095	G	A	18	7036096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.2084622404175E-5	0.054
18	7036095	G	C	18	7036096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997299388167616	0.9
18	7036095	G	T	18	7036096	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.72519333190615E-4	0.078
18	7036096	T	A	18	7036097	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.86047800746118E-5	0.038
18	7036096	T	C	18	7036097	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999119165932767	0.852
18	7036096	T	G	18	7036097	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.29025094193889E-4	0.02
18	7036097	T	A	18	7036098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.8750121902058E-5	0.028
18	7036097	T	C	18	7036098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999360390451296	0.96
18	7036097	T	G	18	7036098	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.89840865044429E-5	0.022
18	7036098	T	A	18	7036099	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.22574313485607E-5	0.026
18	7036098	T	C	18	7036099	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.13893767719459E-5	0.01
18	7036098	T	G	18	7036099	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.81564726183924E-5	0.002
18	7036099	A	C	18	7036100	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0411815108305609	0.5
18	7036099	A	G	18	7036100	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00165607482977105	0.216
18	7036099	A	T	18	7036100	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.693004440655614	0.636
18	7037569	A	C	18	7037570	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.36382355702771E-5	0.004
18	7037569	A	G	18	7037570	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.13879224812485E-5	0.0
18	7037569	A	T	18	7037570	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.13879224812485E-5	0.0
18	7037570	C	A	18	7037571	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.26954946448503E-5	0.0
18	7037570	C	G	18	7037571	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.61436470647564E-5	0.004
18	7037570	C	T	18	7037571	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.61436470647564E-5	0.002
18	7037571	A	C	18	7037572	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00369738596303066	0.116
18	7037571	A	G	18	7037572	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0100319016203129	0.15
18	7037571	A	T	18	7037572	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0417937556710963	0.198
18	7037572	C	A	18	7037573	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995686658203629	0.778
18	7037572	C	G	18	7037573	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998191235888266	0.808
18	7037572	C	T	18	7037573	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.979989294252925	0.624
18	7037573	G	A	18	7037574	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.55883130003634E-4	0.014
18	7037573	G	C	18	7037574	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.00117659595223E-5	0.0
18	7037573	G	T	18	7037574	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.4915067049648E-5	0.016
18	7037574	C	A	18	7037575	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0051980880332837	0.322
18	7037574	C	G	18	7037575	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.341526498745611	0.448
18	7037574	C	T	18	7037575	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.28801148860412E-5	0.0
18	7037575	A	C	18	7037576	y	y	splicing	LAMA1(NM_005559:exon13:c.1737+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1737+2T>G)	.	.	0.999893588078984	0.866
18	7037575	A	G	18	7037576	y	y	splicing	LAMA1(NM_005559:exon13:c.1737+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1737+2T>C)	.	.	0.999500178761482	0.824
18	7037575	A	T	18	7037576	y	y	splicing	LAMA1(NM_005559:exon13:c.1737+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1737+2T>A)	.	.	0.999903621866699	0.878
18	7037576	C	A	18	7037577	y	y	splicing	LAMA1(NM_005559:exon13:c.1737+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1737+1G>T)	.	.	0.999938990645747	0.938
18	7037576	C	G	18	7037577	y	y	splicing	LAMA1(NM_005559:exon13:c.1737+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1737+1G>C)	.	.	0.999938990645747	0.938
18	7037576	C	T	18	7037577	y	y	splicing	LAMA1(NM_005559:exon13:c.1737+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1737+1G>A)	.	.	0.999938990645747	0.944
18	7037577	C	A	18	7037578	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.G1737T:p.K579N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.G1737T:p.K579N;	0.999854707034467	0.984
18	7037577	C	G	18	7037578	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.G1737C:p.K579N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.G1737C:p.K579N;	0.999886939310821	0.968
18	7037577	C	T	18	7037578	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon12:c.G1737A:p.K579K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.G1737A:p.K579K;	0.994773453442565	0.914
18	7037578	T	A	18	7037579	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.A1736T:p.K579M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.A1736T:p.K579M;	0.999521684778389	0.936
18	7037578	T	C	18	7037579	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.A1736G:p.K579R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.A1736G:p.K579R;	0.99973315543371	0.986
18	7037578	T	G	18	7037579	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.A1736C:p.K579T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.A1736C:p.K579T;	0.994644913972583	0.906
18	7037579	T	A	18	7037580	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon12:c.A1735T:p.K579X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon12:c.A1735T:p.K579X;	0.935385662196613	0.676
18	7037579	T	C	18	7037580	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.A1735G:p.K579E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.A1735G:p.K579E;	0.12599319628475	0.404
18	7037579	T	G	18	7037580	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.A1735C:p.K579Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.A1735C:p.K579Q;	0.500097287158619	0.464
18	7037749	A	C	18	7037750	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.T1565G:p.V522G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.T1565G:p.V522G;	0.0630945861871742	0.218
18	7037749	A	G	18	7037750	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.T1565C:p.V522A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.T1565C:p.V522A;	0.0882431034520201	0.164
18	7037749	A	T	18	7037750	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.T1565A:p.V522E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.T1565A:p.V522E;	0.486368222168602	0.344
18	7037750	C	A	18	7037751	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.G1564T:p.V522L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.G1564T:p.V522L;	0.928082300819535	0.71
18	7037750	C	G	18	7037751	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.G1564C:p.V522L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.G1564C:p.V522L;	0.418640967623147	0.626
18	7037750	C	T	18	7037751	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.G1564A:p.V522I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon12:c.G1564A:p.V522I;	0.0172185158365715	0.312
18	7037751	C	A	18	7037752	y	y	splicing	LAMA1(NM_005559:exon13:c.1564-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1564-1G>T)	.	.	0.99996469115006	0.908
18	7037751	C	G	18	7037752	y	y	splicing	LAMA1(NM_005559:exon13:c.1564-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1564-1G>C)	.	.	0.99996469115006	0.904
18	7037751	C	T	18	7037752	y	y	splicing	LAMA1(NM_005559:exon13:c.1564-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1564-1G>A)	.	.	0.99996469115006	0.91
18	7037752	T	A	18	7037753	y	y	splicing	LAMA1(NM_005559:exon13:c.1564-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1564-2A>T)	.	.	0.999972871252391	0.874
18	7037752	T	C	18	7037753	y	y	splicing	LAMA1(NM_005559:exon13:c.1564-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1564-2A>G)	.	.	0.999969255906173	0.86
18	7037752	T	G	18	7037753	y	y	splicing	LAMA1(NM_005559:exon13:c.1564-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon13:c.1564-2A>C)	.	.	0.999969255906173	0.864
18	7037753	T	A	18	7037754	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.37260255970327E-5	0.0
18	7037753	T	C	18	7037754	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.062590079763005	0.412
18	7037753	T	G	18	7037754	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.6433723411645E-5	0.01
18	7037754	A	C	18	7037755	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10407258391613E-4	0.03
18	7037754	A	G	18	7037755	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.97467525071943E-5	0.018
18	7037754	A	T	18	7037755	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.36608723501111E-5	0.008
18	7037755	A	C	18	7037756	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.965452210058579	0.526
18	7037755	A	G	18	7037756	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0176279449769959	0.25
18	7037755	A	T	18	7037756	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.820227255553055	0.432
18	7037756	A	C	18	7037757	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.659498547050311	0.524
18	7037756	A	G	18	7037757	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.22551493392213E-4	0.05
18	7037756	A	T	18	7037757	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.417177931277638	0.478
18	7037757	A	C	18	7037758	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0137214850728453	0.174
18	7037757	A	G	18	7037758	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.17735315153739E-4	0.046
18	7037757	A	T	18	7037758	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00876600143188388	0.154
18	7037758	A	C	18	7037759	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.139613733909368	0.404
18	7037758	A	G	18	7037759	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.77810732158801E-4	0.072
18	7037758	A	T	18	7037759	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.174146856135417	0.4
18	7037759	C	A	18	7037760	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.51715955169506E-5	0.0
18	7037759	C	G	18	7037760	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.66470213356186E-5	0.0
18	7037759	C	T	18	7037760	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.04790165349134E-4	0.006
18	7037760	A	C	18	7037761	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00927475479763918	0.26
18	7037760	A	G	18	7037761	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.6715996954708E-4	0.046
18	7037760	A	T	18	7037761	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999936049969926	0.902
18	7037761	A	C	18	7037762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.345336172598081	0.496
18	7037761	A	G	18	7037762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.059606014128497	0.222
18	7037761	A	T	18	7037762	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.739122757062491	0.526
18	7037762	A	C	18	7037763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999573289792606	0.968
18	7037762	A	G	18	7037763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.6535462800904E-4	0.062
18	7037762	A	T	18	7037763	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0263529025432019	0.4
18	7038801	C	A	18	7038802	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.15278593320187E-4	0.03
18	7038801	C	G	18	7038802	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.23227786770975E-4	0.0
18	7038801	C	T	18	7038802	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.80347302856138E-4	0.022
18	7038802	C	A	18	7038803	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.5199363008541E-5	0.0
18	7038802	C	G	18	7038803	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.89992991939387E-5	0.0
18	7038802	C	T	18	7038803	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.01613284086013E-4	0.0
18	7038803	T	A	18	7038804	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.64352100181717E-5	0.01
18	7038803	T	C	18	7038804	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.60463209519909E-5	0.052
18	7038803	T	G	18	7038804	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.9224699878536E-5	0.044
18	7038804	C	A	18	7038805	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999975094934496	0.968
18	7038804	C	G	18	7038805	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999954099475534	0.982
18	7038804	C	T	18	7038805	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999923599928401	0.994
18	7038805	C	A	18	7038806	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.84672205971356E-4	0.05
18	7038805	C	G	18	7038806	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.00859101145397E-4	0.056
18	7038805	C	T	18	7038806	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.08965630593653E-4	0.194
18	7038806	C	A	18	7038807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.948862205220849	0.76
18	7038806	C	G	18	7038807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.970730103520798	0.708
18	7038806	C	T	18	7038807	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00116389695189277	0.076
18	7038807	A	C	18	7038808	y	y	splicing	LAMA1(NM_005559:exon12:c.1563+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1563+2T>G)	.	.	0.999990764389106	0.944
18	7038807	A	G	18	7038808	y	y	splicing	LAMA1(NM_005559:exon12:c.1563+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1563+2T>C)	.	.	0.999936210417551	0.89
18	7038807	A	T	18	7038808	y	y	splicing	LAMA1(NM_005559:exon12:c.1563+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1563+2T>A)	.	.	0.999990764389106	0.944
18	7038808	C	A	18	7038809	y	y	splicing	LAMA1(NM_005559:exon12:c.1563+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1563+1G>T)	.	.	0.999988630721284	0.942
18	7038808	C	G	18	7038809	y	y	splicing	LAMA1(NM_005559:exon12:c.1563+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1563+1G>C)	.	.	0.999988630721284	0.942
18	7038808	C	T	18	7038809	y	y	splicing	LAMA1(NM_005559:exon12:c.1563+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1563+1G>A)	.	.	0.999988630721284	0.942
18	7038809	C	A	18	7038810	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.G1563T:p.Q521H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.G1563T:p.Q521H;	0.999992189492819	0.998
18	7038809	C	G	18	7038810	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.G1563C:p.Q521H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.G1563C:p.Q521H;	0.9999981677847	0.998
18	7038809	C	T	18	7038810	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon11:c.G1563A:p.Q521Q;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.G1563A:p.Q521Q;	0.999992244711167	0.998
18	7038810	T	A	18	7038811	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.A1562T:p.Q521L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.A1562T:p.Q521L;	0.999958377928793	1.0
18	7038810	T	C	18	7038811	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.A1562G:p.Q521R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.A1562G:p.Q521R;	0.999910600255018	0.998
18	7038810	T	G	18	7038811	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.A1562C:p.Q521P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.A1562C:p.Q521P;	0.999917107154367	0.99
18	7038811	G	A	18	7038812	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon11:c.C1561T:p.Q521X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon11:c.C1561T:p.Q521X;	0.999844077230381	0.992
18	7038811	G	C	18	7038812	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.C1561G:p.Q521E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.C1561G:p.Q521E;	0.955324844582868	0.644
18	7038811	G	T	18	7038812	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.C1561A:p.Q521K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.C1561A:p.Q521K;	0.0912345013388458	0.214
18	7038948	T	A	18	7038949	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.A1424T:p.E475V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.A1424T:p.E475V;	2.30196681807624E-5	0.0
18	7038948	T	C	18	7038949	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.A1424G:p.E475G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.A1424G:p.E475G;	4.74917746181644E-5	0.016
18	7038948	T	G	18	7038949	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.A1424C:p.E475A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.A1424C:p.E475A;	5.76857906470211E-5	0.01
18	7038949	C	A	18	7038950	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon11:c.G1423T:p.E475X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon11:c.G1423T:p.E475X;	0.998849146572972	0.92
18	7038949	C	G	18	7038950	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.G1423C:p.E475Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.G1423C:p.E475Q;	0.0198108413815003	0.492
18	7038949	C	T	18	7038950	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon11:c.G1423A:p.E475K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon11:c.G1423A:p.E475K;	0.0139869166953245	0.272
18	7038950	C	A	18	7038951	y	y	splicing	LAMA1(NM_005559:exon12:c.1423-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1423-1G>T)	.	.	0.999965722254998	0.886
18	7038950	C	G	18	7038951	y	y	splicing	LAMA1(NM_005559:exon12:c.1423-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1423-1G>C)	.	.	0.999962153403958	0.878
18	7038950	C	T	18	7038951	y	y	splicing	LAMA1(NM_005559:exon12:c.1423-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1423-1G>A)	.	.	0.999965722254998	0.844
18	7038951	T	A	18	7038952	y	y	splicing	LAMA1(NM_005559:exon12:c.1423-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1423-2A>T)	.	.	0.999969255906173	0.864
18	7038951	T	C	18	7038952	y	y	splicing	LAMA1(NM_005559:exon12:c.1423-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1423-2A>G)	.	.	0.999969712949741	0.842
18	7038951	T	G	18	7038952	y	y	splicing	LAMA1(NM_005559:exon12:c.1423-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon12:c.1423-2A>C)	.	.	0.999969712949741	0.842
18	7038952	G	A	18	7038953	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0105399627594629	0.184
18	7038952	G	C	18	7038953	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999724423274098	0.908
18	7038952	G	T	18	7038953	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.941747027507587	0.714
18	7038953	T	A	18	7038954	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.01067563614531E-5	0.002
18	7038953	T	C	18	7038954	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.69909457739712E-5	0.01
18	7038953	T	G	18	7038954	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.51668889476848E-5	0.018
18	7038954	A	C	18	7038955	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.289605859995966	0.414
18	7038954	A	G	18	7038955	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.3929128140999E-4	0.126
18	7038954	A	T	18	7038955	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0487187423479358	0.482
18	7038955	A	C	18	7038956	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.207260721885303	0.286
18	7038955	A	G	18	7038956	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.16870496682802E-5	0.002
18	7038955	A	T	18	7038956	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0294739847294154	0.192
18	7038956	G	A	18	7038957	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.07946081136518E-5	0.016
18	7038956	G	C	18	7038957	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999194755169918	0.854
18	7038956	G	T	18	7038957	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00162828351754362	0.208
18	7038957	T	A	18	7038958	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.18498239749302E-4	0.0
18	7038957	T	C	18	7038958	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997033515822412	0.976
18	7038957	T	G	18	7038958	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.15884529533419E-5	0.0
18	7038958	T	A	18	7038959	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.48314391888086E-5	0.0
18	7038958	T	C	18	7038959	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.75638317261979E-5	0.0
18	7038958	T	G	18	7038959	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.57007892398137E-5	0.0
18	7038959	A	C	18	7038960	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00373155886574534	0.156
18	7038959	A	G	18	7038960	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.42042969358142E-5	0.004
18	7038959	A	T	18	7038960	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00242997051163135	0.102
18	7038960	G	A	18	7038961	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.25315374893956E-5	0.0
18	7038960	G	C	18	7038961	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.35979997276829E-4	0.124
18	7038960	G	T	18	7038961	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00111897607790392	0.094
18	7038961	G	A	18	7038962	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.89527709685161E-5	0.0
18	7038961	G	C	18	7038962	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.9652675773571E-4	0.09
18	7038961	G	T	18	7038962	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.30383737445803E-4	0.012
18	7040067	C	A	18	7040068	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10275622159801E-5	0.0
18	7040067	C	G	18	7040068	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10275622159801E-5	0.0
18	7040067	C	T	18	7040068	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.10275622159801E-5	0.0
18	7040068	C	A	18	7040069	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.64124613648393E-5	0.0
18	7040068	C	G	18	7040069	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.10375415512646E-5	0.002
18	7040068	C	T	18	7040069	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.64124613648393E-5	0.002
18	7040069	A	C	18	7040070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45850011601545E-4	0.014
18	7040069	A	G	18	7040070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.5181158600115E-4	0.02
18	7040069	A	T	18	7040070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.06445113930542E-4	0.024
18	7040070	C	A	18	7040071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.666062542528112	0.454
18	7040070	C	G	18	7040071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.423331522507261	0.434
18	7040070	C	T	18	7040071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.422431949802934	0.548
18	7040071	T	A	18	7040072	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0241969363217894	0.18
18	7040071	T	C	18	7040072	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0232800418191735	0.26
18	7040071	T	G	18	7040072	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0268202291239465	0.216
18	7040072	T	A	18	7040073	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.135412334949116	0.426
18	7040072	T	C	18	7040073	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.79503941623053E-4	0.054
18	7040072	T	G	18	7040073	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.522780392759255	0.544
18	7040073	A	C	18	7040074	y	y	splicing	LAMA1(NM_005559:exon11:c.1422+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1422+2T>G)	.	.	0.999988247793601	0.926
18	7040073	A	G	18	7040074	y	y	splicing	LAMA1(NM_005559:exon11:c.1422+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1422+2T>C)	.	.	0.988163425542712	0.624
18	7040073	A	T	18	7040074	y	y	splicing	LAMA1(NM_005559:exon11:c.1422+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1422+2T>A)	.	.	0.999988247793601	0.926
18	7040074	C	A	18	7040075	y	y	splicing	LAMA1(NM_005559:exon11:c.1422+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1422+1G>T)	.	.	0.999985532734767	0.936
18	7040074	C	G	18	7040075	y	y	splicing	LAMA1(NM_005559:exon11:c.1422+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1422+1G>C)	.	.	0.999985532734767	0.934
18	7040074	C	T	18	7040075	y	y	splicing	LAMA1(NM_005559:exon11:c.1422+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1422+1G>A)	.	.	0.999985532734767	0.936
18	7040075	C	A	18	7040076	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.G1422T:p.K474N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1422T:p.K474N;	0.999462734858641	0.896
18	7040075	C	G	18	7040076	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.G1422C:p.K474N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1422C:p.K474N;	0.998960969013821	0.906
18	7040075	C	T	18	7040076	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon10:c.G1422A:p.K474K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1422A:p.K474K;	0.997816270292495	0.826
18	7040076	T	A	18	7040077	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.A1421T:p.K474M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.A1421T:p.K474M;	0.984621198117688	0.512
18	7040076	T	C	18	7040077	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.A1421G:p.K474R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.A1421G:p.K474R;	0.992023103073377	0.79
18	7040076	T	G	18	7040077	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.A1421C:p.K474T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.A1421C:p.K474T;	0.984621198117688	0.652
18	7040077	T	A	18	7040078	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon10:c.A1420T:p.K474X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon10:c.A1420T:p.K474X;	0.949800876323349	0.6
18	7040077	T	C	18	7040078	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.A1420G:p.K474E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.A1420G:p.K474E;	0.281693917181004	0.436
18	7040077	T	G	18	7040078	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.A1420C:p.K474Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.A1420C:p.K474Q;	0.594630662720119	0.71
18	7040234	C	A	18	7040235	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon10:c.G1263T:p.G421G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1263T:p.G421G;	3.27356067407393E-5	0.008
18	7040234	C	G	18	7040235	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon10:c.G1263C:p.G421G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1263C:p.G421G;	5.77755524019762E-5	0.002
18	7040234	C	T	18	7040235	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon10:c.G1263A:p.G421G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1263A:p.G421G;	4.56426200254598E-5	0.006
18	7040235	C	A	18	7040236	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.G1262T:p.G421V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1262T:p.G421V;	0.999889932119175	0.978
18	7040235	C	G	18	7040236	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.G1262C:p.G421A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1262C:p.G421A;	0.999574655174208	0.9
18	7040235	C	T	18	7040236	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon10:c.G1262A:p.G421E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon10:c.G1262A:p.G421E;	0.998472516061782	0.922
18	7040236	C	A	18	7040237	y	y	splicing	LAMA1(NM_005559:exon11:c.1262-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1262-1G>T)	.	.	0.999974785031454	0.866
18	7040236	C	G	18	7040237	y	y	splicing	LAMA1(NM_005559:exon11:c.1262-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1262-1G>C)	.	.	0.999975159880751	0.864
18	7040236	C	T	18	7040237	y	y	splicing	LAMA1(NM_005559:exon11:c.1262-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1262-1G>A)	.	.	0.999974785031454	0.878
18	7040237	T	A	18	7040238	y	y	splicing	LAMA1(NM_005559:exon11:c.1262-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1262-2A>T)	.	.	0.999969255906173	0.85
18	7040237	T	C	18	7040238	y	y	splicing	LAMA1(NM_005559:exon11:c.1262-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1262-2A>G)	.	.	0.999962958601995	0.84
18	7040237	T	G	18	7040238	y	y	splicing	LAMA1(NM_005559:exon11:c.1262-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon11:c.1262-2A>C)	.	.	0.999962958601995	0.842
18	7040238	A	C	18	7040239	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.986691265093073	0.636
18	7040238	A	G	18	7040239	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.04180882689726E-5	0.008
18	7040238	A	T	18	7040239	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00192551342670088	0.208
18	7040239	G	A	18	7040240	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.39426746735574E-4	0.008
18	7040239	G	C	18	7040240	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.37217941479183E-4	0.018
18	7040239	G	T	18	7040240	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.47228706362225E-4	0.018
18	7040240	A	C	18	7040241	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.485982304931478	0.404
18	7040240	A	G	18	7040241	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.53384011741617E-4	0.008
18	7040240	A	T	18	7040241	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.198685368717933	0.4
18	7040241	A	C	18	7040242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0186836681818766	0.17
18	7040241	A	G	18	7040242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.02650010077649E-5	0.002
18	7040241	A	T	18	7040242	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00688167971570248	0.184
18	7040242	A	C	18	7040243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0119983531879854	0.212
18	7040242	A	G	18	7040243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.90779098846332E-4	0.008
18	7040242	A	T	18	7040243	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.116390572281181	0.352
18	7040243	G	A	18	7040244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.85208629975283E-4	0.006
18	7040243	G	C	18	7040244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.75751399854869E-4	0.054
18	7040243	G	T	18	7040244	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00144196053060899	0.146
18	7040244	A	C	18	7040245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0367379301198899	0.406
18	7040244	A	G	18	7040245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.44569480894919E-4	0.004
18	7040244	A	T	18	7040245	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0592496996363094	0.458
18	7040245	C	A	18	7040246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.62656399889521E-5	0.008
18	7040245	C	G	18	7040246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.06287192565406E-5	0.006
18	7040245	C	T	18	7040246	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.05283062127264E-4	0.01
18	7040246	A	C	18	7040247	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.109416843891529	0.364
18	7040246	A	G	18	7040247	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.79661384120116E-4	0.074
18	7040246	A	T	18	7040247	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999578187352738	0.928
18	7040247	A	C	18	7040248	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00499051095693164	0.278
18	7040247	A	G	18	7040248	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.01901764327213E-4	0.012
18	7040247	A	T	18	7040248	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0136503284511746	0.262
18	7042136	G	A	18	7042137	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.75289494538373E-5	0.002
18	7042136	G	C	18	7042137	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.75289494538373E-5	0.006
18	7042136	G	T	18	7042137	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.75289494538373E-5	0.006
18	7042137	T	A	18	7042138	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.59400121892044E-5	0.002
18	7042137	T	C	18	7042138	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.59400121892044E-5	0.002
18	7042137	T	G	18	7042138	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.38113264713725E-5	0.0
18	7042138	A	C	18	7042139	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.97669615452861E-4	0.014
18	7042138	A	G	18	7042139	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.90768568533937E-4	0.016
18	7042138	A	T	18	7042139	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.51508499180559E-4	0.02
18	7042139	C	A	18	7042140	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99254768083216	0.652
18	7042139	C	G	18	7042140	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998066890848278	0.716
18	7042139	C	T	18	7042140	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.986875741580799	0.66
18	7042140	T	A	18	7042141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0618231343808835	0.382
18	7042140	T	C	18	7042141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.02675526229924	0.392
18	7042140	T	G	18	7042141	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00934492284287874	0.286
18	7042141	T	A	18	7042142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.182751839676938	0.52
18	7042141	T	C	18	7042142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.94545456559286E-4	0.122
18	7042141	T	G	18	7042142	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.919430147102621	0.588
18	7042142	A	C	18	7042143	y	y	splicing	LAMA1(NM_005559:exon10:c.1261+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1261+2T>G)	.	.	0.999689930196456	0.814
18	7042142	A	G	18	7042143	y	y	splicing	LAMA1(NM_005559:exon10:c.1261+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1261+2T>C)	.	.	0.780952101640572	0.516
18	7042142	A	T	18	7042143	y	y	splicing	LAMA1(NM_005559:exon10:c.1261+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1261+2T>A)	.	.	0.999742632347425	0.828
18	7042143	C	A	18	7042144	y	y	splicing	LAMA1(NM_005559:exon10:c.1261+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1261+1G>T)	.	.	0.99995586615188	0.94
18	7042143	C	G	18	7042144	y	y	splicing	LAMA1(NM_005559:exon10:c.1261+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1261+1G>C)	.	.	0.999971209564868	0.938
18	7042143	C	T	18	7042144	y	y	splicing	LAMA1(NM_005559:exon10:c.1261+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1261+1G>A)	.	.	0.99995586615188	0.94
18	7042144	C	A	18	7042145	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.G1261T:p.G421W;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.G1261T:p.G421W;	0.999909315696362	0.976
18	7042144	C	G	18	7042145	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.G1261C:p.G421R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.G1261C:p.G421R;	0.999918116398833	0.95
18	7042144	C	T	18	7042145	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.G1261A:p.G421R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.G1261A:p.G421R;	0.999951776651326	0.956
18	7042145	A	C	18	7042146	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.T1260G:p.N420K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.T1260G:p.N420K;	7.57320880532081E-5	0.0
18	7042145	A	G	18	7042146	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon9:c.T1260C:p.N420N;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.T1260C:p.N420N;	7.48293208623238E-5	0.002
18	7042145	A	T	18	7042146	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.T1260A:p.N420K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.T1260A:p.N420K;	5.4862757482763E-5	0.056
18	7042146	T	A	18	7042147	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.A1259T:p.N420I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.A1259T:p.N420I;	0.00116514947839751	0.144
18	7042146	T	C	18	7042147	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.A1259G:p.N420S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.A1259G:p.N420S;	8.39405544693463E-5	0.006
18	7042146	T	G	18	7042147	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.A1259C:p.N420T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.A1259C:p.N420T;	6.49099996914444E-5	0.004
18	7042248	A	C	18	7042249	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.T1157G:p.V386G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.T1157G:p.V386G;	0.695679102194893	0.534
18	7042248	A	G	18	7042249	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.T1157C:p.V386A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.T1157C:p.V386A;	0.795497528667187	0.522
18	7042248	A	T	18	7042249	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.T1157A:p.V386E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.T1157A:p.V386E;	0.823704746527996	0.514
18	7042249	C	A	18	7042250	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.G1156T:p.V386L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.G1156T:p.V386L;	0.998058241061702	0.946
18	7042249	C	G	18	7042250	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.G1156C:p.V386L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.G1156C:p.V386L;	0.998162693269359	0.918
18	7042249	C	T	18	7042250	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon9:c.G1156A:p.V386M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon9:c.G1156A:p.V386M;	0.877532746872756	0.492
18	7042250	C	A	18	7042251	y	y	splicing	LAMA1(NM_005559:exon10:c.1156-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1156-1G>T)	.	.	0.999985532734767	0.934
18	7042250	C	G	18	7042251	y	y	splicing	LAMA1(NM_005559:exon10:c.1156-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1156-1G>C)	.	.	0.999985532734767	0.934
18	7042250	C	T	18	7042251	y	y	splicing	LAMA1(NM_005559:exon10:c.1156-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1156-1G>A)	.	.	0.999985532734767	0.934
18	7042251	T	A	18	7042252	y	y	splicing	LAMA1(NM_005559:exon10:c.1156-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1156-2A>T)	.	.	0.999988247793601	0.922
18	7042251	T	C	18	7042252	y	y	splicing	LAMA1(NM_005559:exon10:c.1156-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1156-2A>G)	.	.	0.999988247793601	0.922
18	7042251	T	G	18	7042252	y	y	splicing	LAMA1(NM_005559:exon10:c.1156-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon10:c.1156-2A>C)	.	.	0.999988247793601	0.922
18	7042252	G	A	18	7042253	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00490393856764672	0.038
18	7042252	G	C	18	7042253	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999739143998955	0.916
18	7042252	G	T	18	7042253	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.733895273052443	0.626
18	7042253	A	C	18	7042254	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.67188300169153E-4	0.018
18	7042253	A	G	18	7042254	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.87967724307074E-4	0.01
18	7042253	A	T	18	7042254	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.78189677795146E-4	0.018
18	7042254	A	C	18	7042255	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.775072432542521	0.598
18	7042254	A	G	18	7042255	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.054199577771844	0.228
18	7042254	A	T	18	7042255	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.985073243978402	0.688
18	7042255	A	C	18	7042256	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.846338108886862	0.38
18	7042255	A	G	18	7042256	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00241294352335393	0.112
18	7042255	A	T	18	7042256	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.854886988031984	0.39
18	7042256	G	A	18	7042257	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.29714395736615E-4	0.01
18	7042256	G	C	18	7042257	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0172959256656114	0.12
18	7042256	G	T	18	7042257	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0244364280942298	0.158
18	7042257	G	A	18	7042258	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.85549107393095E-5	0.004
18	7042257	G	C	18	7042258	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00796842429648488	0.09
18	7042257	G	T	18	7042258	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.22094068343128E-4	0.096
18	7042258	C	A	18	7042259	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.34657745407693E-4	0.004
18	7042258	C	G	18	7042259	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.55237129081391E-4	0.004
18	7042258	C	T	18	7042259	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.54225778079896E-4	0.032
18	7042259	A	C	18	7042260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0270323182686433	0.19
18	7042259	A	G	18	7042260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.42824512594048E-5	0.072
18	7042259	A	T	18	7042260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999759336355263	0.978
18	7042260	G	A	18	7042261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.16373034314769E-5	0.0
18	7042260	G	C	18	7042261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00388779707631633	0.236
18	7042260	G	T	18	7042261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0114969476473751	0.154
18	7042261	A	C	18	7042262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0930908933405336	0.222
18	7042261	A	G	18	7042262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00479077381242607	0.04
18	7042261	A	T	18	7042262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0430088754651831	0.254
18	7043218	A	C	18	7043219	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.69058192323419E-4	0.0
18	7043218	A	G	18	7043219	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.48432501117575E-5	0.0
18	7043218	A	T	18	7043219	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.45278473848903E-4	0.016
18	7043219	C	A	18	7043220	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.0669252519756E-4	0.004
18	7043219	C	G	18	7043220	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.04005457812213E-4	0.004
18	7043219	C	T	18	7043220	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.41966287685281E-4	0.006
18	7043220	T	A	18	7043221	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.03356552987918E-4	0.026
18	7043220	T	C	18	7043221	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.12622840710264E-4	0.006
18	7043220	T	G	18	7043221	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.01289188553597E-4	0.048
18	7043221	C	A	18	7043222	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999964859224086	0.936
18	7043221	C	G	18	7043222	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999887953316413	0.95
18	7043221	C	T	18	7043222	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99995235024613	0.968
18	7043222	T	A	18	7043223	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998401273771862	0.95
18	7043222	T	C	18	7043223	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998318194106554	0.992
18	7043222	T	G	18	7043223	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998261460298341	0.93
18	7043223	T	A	18	7043224	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99983532086002	0.956
18	7043223	T	C	18	7043224	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.580930405121376	0.528
18	7043223	T	G	18	7043224	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999780759981723	0.912
18	7043224	A	C	18	7043225	y	y	splicing	LAMA1(NM_005559:exon9:c.1155+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.1155+2T>G)	.	.	0.999988247793601	0.93
18	7043224	A	G	18	7043225	y	y	splicing	LAMA1(NM_005559:exon9:c.1155+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.1155+2T>C)	.	.	0.997781565257106	0.73
18	7043224	A	T	18	7043225	y	y	splicing	LAMA1(NM_005559:exon9:c.1155+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.1155+2T>A)	.	.	0.999988247793601	0.93
18	7043225	C	A	18	7043226	y	y	splicing	LAMA1(NM_005559:exon9:c.1155+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.1155+1G>T)	.	.	0.999990361384395	0.938
18	7043225	C	G	18	7043226	y	y	splicing	LAMA1(NM_005559:exon9:c.1155+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.1155+1G>C)	.	.	0.999990361384395	0.938
18	7043225	C	T	18	7043226	y	y	splicing	LAMA1(NM_005559:exon9:c.1155+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.1155+1G>A)	.	.	0.999990361384395	0.938
18	7043226	T	A	18	7043227	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.A1155T:p.K385N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A1155T:p.K385N;	6.04088160880741E-4	0.272
18	7043226	T	C	18	7043227	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon8:c.A1155G:p.K385K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A1155G:p.K385K;	9.14419372922127E-5	0.14
18	7043226	T	G	18	7043227	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.A1155C:p.K385N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A1155C:p.K385N;	3.76902860545281E-5	0.154
18	7043227	T	A	18	7043228	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.A1154T:p.K385I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A1154T:p.K385I;	0.996255191490675	0.752
18	7043227	T	C	18	7043228	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.A1154G:p.K385R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A1154G:p.K385R;	0.572194612676212	0.526
18	7043227	T	G	18	7043228	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.A1154C:p.K385T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A1154C:p.K385T;	0.978349520663718	0.69
18	7043228	T	A	18	7043229	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon8:c.A1153T:p.K385X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon8:c.A1153T:p.K385X;	0.0951825971163008	0.518
18	7043228	T	C	18	7043229	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.A1153G:p.K385E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A1153G:p.K385E;	1.52437738789513E-4	0.014
18	7043228	T	G	18	7043229	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.A1153C:p.K385Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A1153C:p.K385Q;	3.43655221189903E-5	0.004
18	7043403	T	A	18	7043404	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon8:c.A978T:p.A326A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A978T:p.A326A;	1.7907619357566E-5	0.058
18	7043403	T	C	18	7043404	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon8:c.A978G:p.A326A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A978G:p.A326A;	1.83560050387404E-4	0.082
18	7043403	T	G	18	7043404	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon8:c.A978C:p.A326A;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.A978C:p.A326A;	2.86242336803368E-4	0.03
18	7043404	G	A	18	7043405	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.C977T:p.A326V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.C977T:p.A326V;	0.00175112178286157	0.194
18	7043404	G	C	18	7043405	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.C977G:p.A326G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.C977G:p.A326G;	8.73623585879778E-5	0.054
18	7043404	G	T	18	7043405	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon8:c.C977A:p.A326E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon8:c.C977A:p.A326E;	1.4930011162952E-5	0.024
18	7043405	C	A	18	7043406	y	y	splicing	LAMA1(NM_005559:exon9:c.977-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.977-1G>T)	.	.	0.999980697831002	0.87
18	7043405	C	G	18	7043406	y	y	splicing	LAMA1(NM_005559:exon9:c.977-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.977-1G>C)	.	.	0.999980697831002	0.868
18	7043405	C	T	18	7043406	y	y	splicing	LAMA1(NM_005559:exon9:c.977-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.977-1G>A)	.	.	0.999980697831002	0.87
18	7043406	T	A	18	7043407	y	y	splicing	LAMA1(NM_005559:exon9:c.977-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.977-2A>T)	.	.	0.999914511980801	0.874
18	7043406	T	C	18	7043407	y	y	splicing	LAMA1(NM_005559:exon9:c.977-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.977-2A>G)	.	.	0.999914511980801	0.874
18	7043406	T	G	18	7043407	y	y	splicing	LAMA1(NM_005559:exon9:c.977-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon9:c.977-2A>C)	.	.	0.999914511980801	0.874
18	7043407	A	C	18	7043408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.968815651425175	0.728
18	7043407	A	G	18	7043408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.14611540194468E-4	0.026
18	7043407	A	T	18	7043408	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.701569237293536	0.502
18	7043408	G	A	18	7043409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.32465330030818E-4	0.19
18	7043408	G	C	18	7043409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.59963721453561E-5	0.028
18	7043408	G	T	18	7043409	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.31938825653907E-5	0.152
18	7043409	G	A	18	7043410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.22098661014544E-4	0.026
18	7043409	G	C	18	7043410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00369438136056512	0.144
18	7043409	G	T	18	7043410	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.46729099597595E-4	0.102
18	7043410	A	C	18	7043411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.930566048843865	0.698
18	7043410	A	G	18	7043411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.83572897882255E-4	0.174
18	7043410	A	T	18	7043411	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.736111207319933	0.684
18	7043411	G	A	18	7043412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.22775179790944E-5	0.042
18	7043411	G	C	18	7043412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.13910768161653E-4	0.188
18	7043411	G	T	18	7043412	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00132128290736007	0.172
18	7043412	A	C	18	7043413	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00400942603814896	0.324
18	7043412	A	G	18	7043413	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.91197508990364E-5	0.024
18	7043412	A	T	18	7043413	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.220517262888083	0.504
18	7043413	A	C	18	7043414	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999494007616663	0.914
18	7043413	A	G	18	7043414	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00150468358503872	0.024
18	7043413	A	T	18	7043414	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0117907232327961	0.42
18	7043414	T	A	18	7043415	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.90411647846773E-5	0.022
18	7043414	T	C	18	7043415	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.32362274521798E-4	0.072
18	7043414	T	G	18	7043415	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.80456651446633E-5	0.024
18	7043415	A	C	18	7043416	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998095591358646	0.894
18	7043415	A	G	18	7043416	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0114955110309594	0.334
18	7043415	A	T	18	7043416	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.318356611378558	0.596
18	7043416	T	A	18	7043417	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.89286735955117E-5	0.026
18	7043416	T	C	18	7043417	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998772655470473	0.988
18	7043416	T	G	18	7043417	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.28249000237301E-5	0.012
18	7044713	A	C	18	7044714	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.87363017422825E-5	0.0
18	7044713	A	G	18	7044714	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.22485178071497E-5	0.0
18	7044713	A	T	18	7044714	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.27729437242616E-5	0.002
18	7044714	T	A	18	7044715	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.61960105485604E-4	0.02
18	7044714	T	C	18	7044715	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15892093356314E-4	0.006
18	7044714	T	G	18	7044715	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.0819239386356E-4	0.0
18	7044715	A	C	18	7044716	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00956883408848894	0.11
18	7044715	A	G	18	7044716	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00217097789355365	0.058
18	7044715	A	T	18	7044716	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00200278384238815	0.048
18	7044716	C	A	18	7044717	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.985946745485714	0.58
18	7044716	C	G	18	7044717	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.982249726102209	0.614
18	7044716	C	T	18	7044717	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996615345397973	0.698
18	7044717	T	A	18	7044718	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.202886852851107	0.412
18	7044717	T	C	18	7044718	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0384694562146022	0.274
18	7044717	T	G	18	7044718	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.272900284125428	0.374
18	7044718	G	A	18	7044719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.7641824514034E-5	0.0
18	7044718	G	C	18	7044719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.51607216844067E-5	0.026
18	7044718	G	T	18	7044719	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.08897218974627E-5	0.024
18	7044719	A	C	18	7044720	y	y	splicing	LAMA1(NM_005559:exon8:c.976+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.976+2T>G)	.	.	0.999972155025474	0.866
18	7044719	A	G	18	7044720	y	y	splicing	LAMA1(NM_005559:exon8:c.976+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.976+2T>C)	.	.	0.949026161646829	0.562
18	7044719	A	T	18	7044720	y	y	splicing	LAMA1(NM_005559:exon8:c.976+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.976+2T>A)	.	.	0.999972871252391	0.874
18	7044720	C	A	18	7044721	y	y	splicing	LAMA1(NM_005559:exon8:c.976+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.976+1G>T)	.	.	0.999915710762489	0.952
18	7044720	C	G	18	7044721	y	y	splicing	LAMA1(NM_005559:exon8:c.976+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.976+1G>C)	.	.	0.999916487880886	0.952
18	7044720	C	T	18	7044721	y	y	splicing	LAMA1(NM_005559:exon8:c.976+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.976+1G>A)	.	.	0.999915710762489	0.952
18	7044721	C	A	18	7044722	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.G976T:p.A326S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.G976T:p.A326S;	0.999506685123347	0.93
18	7044721	C	G	18	7044722	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.G976C:p.A326P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.G976C:p.A326P;	0.999718095039801	0.878
18	7044721	C	T	18	7044722	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.G976A:p.A326T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.G976A:p.A326T;	0.999877354015285	0.982
18	7044722	T	A	18	7044723	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A975T:p.E325D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A975T:p.E325D;	0.985264177680697	0.866
18	7044722	T	C	18	7044723	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon7:c.A975G:p.E325E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A975G:p.E325E;	0.836803475856772	0.6
18	7044722	T	G	18	7044723	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A975C:p.E325D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A975C:p.E325D;	0.292820180170834	0.578
18	7044723	T	A	18	7044724	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A974T:p.E325V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A974T:p.E325V;	0.973843022994232	0.636
18	7044723	T	C	18	7044724	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A974G:p.E325G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A974G:p.E325G;	0.0696365009969816	0.366
18	7044723	T	G	18	7044724	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A974C:p.E325A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A974C:p.E325A;	0.330053314710454	0.55
18	7044837	T	A	18	7044838	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A860T:p.K287I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A860T:p.K287I;	3.08803303356688E-5	0.032
18	7044837	T	C	18	7044838	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A860G:p.K287R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A860G:p.K287R;	6.28284076284034E-4	0.104
18	7044837	T	G	18	7044838	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A860C:p.K287T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A860C:p.K287T;	5.84786637699222E-4	0.014
18	7044838	T	A	18	7044839	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon7:c.A859T:p.K287X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon7:c.A859T:p.K287X;	0.00835404349966088	0.34
18	7044838	T	C	18	7044839	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A859G:p.K287E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A859G:p.K287E;	2.81675489049247E-4	0.022
18	7044838	T	G	18	7044839	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon7:c.A859C:p.K287Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon7:c.A859C:p.K287Q;	0.00653727351764272	0.192
18	7044839	C	A	18	7044840	y	y	splicing	LAMA1(NM_005559:exon8:c.859-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.859-1G>T)	.	.	0.999945520654368	0.944
18	7044839	C	G	18	7044840	y	y	splicing	LAMA1(NM_005559:exon8:c.859-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.859-1G>C)	.	.	0.999945520654368	0.944
18	7044839	C	T	18	7044840	y	y	splicing	LAMA1(NM_005559:exon8:c.859-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.859-1G>A)	.	.	0.999945520654368	0.944
18	7044840	T	A	18	7044841	y	y	splicing	LAMA1(NM_005559:exon8:c.859-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.859-2A>T)	.	.	0.99997739437695	0.912
18	7044840	T	C	18	7044841	y	y	splicing	LAMA1(NM_005559:exon8:c.859-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.859-2A>G)	.	.	0.999982151912279	0.894
18	7044840	T	G	18	7044841	y	y	splicing	LAMA1(NM_005559:exon8:c.859-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon8:c.859-2A>C)	.	.	0.999982151912279	0.894
18	7044841	A	C	18	7044842	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.932042065523209	0.708
18	7044841	A	G	18	7044842	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.33900844282295E-5	0.048
18	7044841	A	T	18	7044842	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0259884136085439	0.314
18	7044842	C	A	18	7044843	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.21378523163313E-5	0.0
18	7044842	C	G	18	7044843	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.03291730685558E-5	0.002
18	7044842	C	T	18	7044843	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.8981239088574E-5	0.014
18	7044843	A	C	18	7044844	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.980840351060175	0.564
18	7044843	A	G	18	7044844	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00190131088669709	0.136
18	7044843	A	T	18	7044844	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999260349793152	0.958
18	7044844	C	A	18	7044845	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.86527631685197E-5	0.014
18	7044844	C	G	18	7044845	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.91262594556942E-5	0.012
18	7044844	C	T	18	7044845	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.03821647349448E-4	0.008
18	7044845	A	C	18	7044846	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0102654000355978	0.166
18	7044845	A	G	18	7044846	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.23729542867789E-4	0.004
18	7044845	A	T	18	7044846	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999774811310979	0.946
18	7044846	A	C	18	7044847	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.991487567773371	0.89
18	7044846	A	G	18	7044847	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.47037601933366E-5	0.0
18	7044846	A	T	18	7044847	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0015576632049236	0.054
18	7044847	T	A	18	7044848	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.52515013039301E-5	0.002
18	7044847	T	C	18	7044848	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.74049155916761E-5	0.004
18	7044847	T	G	18	7044848	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.59163514984598E-5	0.002
18	7044848	A	C	18	7044849	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00939466176654737	0.182
18	7044848	A	G	18	7044849	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.88888129980446E-4	0.05
18	7044848	A	T	18	7044849	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00471775306925981	0.2
18	7044849	A	C	18	7044850	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0899733209344486	0.558
18	7044849	A	G	18	7044850	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0109692491693264	0.198
18	7044849	A	T	18	7044850	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.246930002340998	0.564
18	7044850	G	A	18	7044851	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.08669826023804E-4	0.0
18	7044850	G	C	18	7044851	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00863319493242022	0.116
18	7044850	G	T	18	7044851	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0132634989643689	0.112
18	7046269	G	A	18	7046270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.2777345682912E-4	0.002
18	7046269	G	C	18	7046270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.81628903229233E-4	0.002
18	7046269	G	T	18	7046270	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.6534170685774E-4	0.0
18	7046270	A	C	18	7046271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15917594430737E-4	0.006
18	7046270	A	G	18	7046271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15917594430737E-4	0.004
18	7046270	A	T	18	7046271	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.5925590125168E-4	0.004
18	7046271	A	C	18	7046272	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0298172526911961	0.306
18	7046271	A	G	18	7046272	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0398280692882694	0.326
18	7046271	A	T	18	7046272	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.143070432219961	0.446
18	7046272	C	A	18	7046273	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999529517732123	0.902
18	7046272	C	G	18	7046273	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999791965271528	0.856
18	7046272	C	T	18	7046273	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999761906328336	0.952
18	7046273	T	A	18	7046274	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.921446114226393	0.464
18	7046273	T	C	18	7046274	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.784888167968718	0.458
18	7046273	T	G	18	7046274	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0953194608254029	0.208
18	7046274	C	A	18	7046275	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.011254283245947	0.152
18	7046274	C	G	18	7046275	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0221866538785767	0.264
18	7046274	C	T	18	7046275	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.16233752755917E-5	0.006
18	7046275	A	C	18	7046276	y	y	splicing	LAMA1(NM_005559:exon7:c.858+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.858+2T>G)	.	.	0.999988247793601	0.932
18	7046275	A	G	18	7046276	y	y	splicing	LAMA1(NM_005559:exon7:c.858+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.858+2T>C)	.	.	0.999929727175276	0.864
18	7046275	A	T	18	7046276	y	y	splicing	LAMA1(NM_005559:exon7:c.858+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.858+2T>A)	.	.	0.999988247793601	0.932
18	7046276	C	A	18	7046277	y	y	splicing	LAMA1(NM_005559:exon7:c.858+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.858+1G>T)	.	.	0.999990361384395	0.938
18	7046276	C	G	18	7046277	y	y	splicing	LAMA1(NM_005559:exon7:c.858+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.858+1G>C)	.	.	0.999990361384395	0.938
18	7046276	C	T	18	7046277	y	y	splicing	LAMA1(NM_005559:exon7:c.858+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.858+1G>A)	.	.	0.999990361384395	0.938
18	7046277	C	A	18	7046278	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.G858T:p.K286N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.G858T:p.K286N;	0.999942441734166	0.932
18	7046277	C	G	18	7046278	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.G858C:p.K286N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.G858C:p.K286N;	0.99990772085368	0.954
18	7046277	C	T	18	7046278	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon6:c.G858A:p.K286K;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.G858A:p.K286K;	0.999760607055581	0.934
18	7046278	T	A	18	7046279	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.A857T:p.K286M;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.A857T:p.K286M;	0.991793054878628	0.646
18	7046278	T	C	18	7046279	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.A857G:p.K286R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.A857G:p.K286R;	0.995267105973229	0.894
18	7046278	T	G	18	7046279	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.A857C:p.K286T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.A857C:p.K286T;	0.989739360115821	0.828
18	7046279	T	A	18	7046280	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon6:c.A856T:p.K286X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon6:c.A856T:p.K286X;	0.994227612473744	0.726
18	7046279	T	C	18	7046280	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.A856G:p.K286E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.A856G:p.K286E;	0.332851377728208	0.464
18	7046279	T	G	18	7046280	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.A856C:p.K286Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.A856C:p.K286Q;	0.821811170944072	0.71
18	7046365	T	A	18	7046366	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.A770T:p.Y257F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.A770T:p.Y257F;	0.836932940265346	0.79
18	7046365	T	C	18	7046366	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.A770G:p.Y257C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.A770G:p.Y257C;	0.888215305607616	0.748
18	7046365	T	G	18	7046366	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.A770C:p.Y257S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.A770C:p.Y257S;	0.885596692905095	0.88
18	7046366	A	C	18	7046367	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.T769G:p.Y257D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.T769G:p.Y257D;	0.791719561674259	0.68
18	7046366	A	G	18	7046367	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.T769C:p.Y257H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.T769C:p.Y257H;	0.918206648765168	0.714
18	7046366	A	T	18	7046367	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon6:c.T769A:p.Y257N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon6:c.T769A:p.Y257N;	0.687382748633179	0.73
18	7046367	C	A	18	7046368	y	y	splicing	LAMA1(NM_005559:exon7:c.769-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.769-1G>T)	.	.	0.999990361384395	0.938
18	7046367	C	G	18	7046368	y	y	splicing	LAMA1(NM_005559:exon7:c.769-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.769-1G>C)	.	.	0.999990361384395	0.938
18	7046367	C	T	18	7046368	y	y	splicing	LAMA1(NM_005559:exon7:c.769-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.769-1G>A)	.	.	0.999990361384395	0.938
18	7046368	T	A	18	7046369	y	y	splicing	LAMA1(NM_005559:exon7:c.769-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.769-2A>T)	.	.	0.999988247793601	0.932
18	7046368	T	C	18	7046369	y	y	splicing	LAMA1(NM_005559:exon7:c.769-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.769-2A>G)	.	.	0.999988247793601	0.932
18	7046368	T	G	18	7046369	y	y	splicing	LAMA1(NM_005559:exon7:c.769-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon7:c.769-2A>C)	.	.	0.999988247793601	0.932
18	7046369	A	C	18	7046370	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.989685977482555	0.674
18	7046369	A	G	18	7046370	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.1687166370275E-6	0.04
18	7046369	A	T	18	7046370	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00196280540386822	0.332
18	7046370	A	C	18	7046371	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.00927467432677E-5	0.004
18	7046370	A	G	18	7046371	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.0041979059321E-5	0.004
18	7046370	A	T	18	7046371	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15292514264198E-4	0.026
18	7046371	G	A	18	7046372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.24100379175214E-5	0.002
18	7046371	G	C	18	7046372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00325580992048565	0.174
18	7046371	G	T	18	7046372	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.99891324799274E-4	0.132
18	7046372	G	A	18	7046373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.17955956332835E-4	0.018
18	7046372	G	C	18	7046373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0041638165930514	0.222
18	7046372	G	T	18	7046373	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0041638165930514	0.24
18	7046373	A	C	18	7046374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.03531507741611E-4	0.048
18	7046373	A	G	18	7046374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.30567998875915E-5	0.008
18	7046373	A	T	18	7046374	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.70724260574473E-4	0.142
18	7046374	A	C	18	7046375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.12954953311973E-4	0.072
18	7046374	A	G	18	7046375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.85942719379376E-4	0.016
18	7046374	A	T	18	7046375	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00244451347570247	0.05
18	7046375	A	C	18	7046376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.37809091008295	0.502
18	7046375	A	G	18	7046376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.087933100590714	0.414
18	7046375	A	T	18	7046376	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.297858099048159	0.502
18	7046376	A	C	18	7046377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00352621500471794	0.188
18	7046376	A	G	18	7046377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00234958003093864	0.094
18	7046376	A	T	18	7046377	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00760951502234266	0.214
18	7046377	A	C	18	7046378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.47742638225931E-5	0.214
18	7046377	A	G	18	7046378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.72658239378946E-4	0.112
18	7046377	A	T	18	7046378	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36116219692029E-4	0.228
18	7046378	G	A	18	7046379	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00138134835499437	0.086
18	7046378	G	C	18	7046379	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00258132340462899	0.102
18	7046378	G	T	18	7046379	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0286249641573741	0.164
18	7049069	A	C	18	7049070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.63612789897728E-6	0.0
18	7049069	A	G	18	7049070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.06341561599038E-6	0.0
18	7049069	A	T	18	7049070	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.20815411554053E-5	0.036
18	7049070	T	A	18	7049071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.41617416401995E-4	0.042
18	7049070	T	C	18	7049071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.76908355058647E-4	0.002
18	7049070	T	G	18	7049071	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.95145951409719E-5	0.002
18	7049071	A	C	18	7049072	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.97153031469297	0.722
18	7049071	A	G	18	7049072	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.959757377310148	0.73
18	7049071	A	T	18	7049072	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.960980852520466	0.686
18	7049072	C	A	18	7049073	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999974141305138	0.998
18	7049072	C	G	18	7049073	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999981448762967	0.988
18	7049072	C	T	18	7049073	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999980368221771	0.992
18	7049073	T	A	18	7049074	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999128578764042	0.904
18	7049073	T	C	18	7049074	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999729719807244	0.916
18	7049073	T	G	18	7049074	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.996217432690124	0.81
18	7049074	C	A	18	7049075	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.9869261707477	0.474
18	7049074	C	G	18	7049075	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.916230354367209	0.534
18	7049074	C	T	18	7049075	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.19622794360089E-5	0.032
18	7049075	A	C	18	7049076	y	y	splicing	LAMA1(NM_005559:exon6:c.768+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.768+2T>G)	.	.	0.999988247793601	0.932
18	7049075	A	G	18	7049076	y	y	splicing	LAMA1(NM_005559:exon6:c.768+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.768+2T>C)	.	.	0.99991520749976	0.868
18	7049075	A	T	18	7049076	y	y	splicing	LAMA1(NM_005559:exon6:c.768+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.768+2T>A)	.	.	0.999988247793601	0.932
18	7049076	C	A	18	7049077	y	y	splicing	LAMA1(NM_005559:exon6:c.768+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.768+1G>T)	.	.	0.999989072007339	0.934
18	7049076	C	G	18	7049077	y	y	splicing	LAMA1(NM_005559:exon6:c.768+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.768+1G>C)	.	.	0.999989072007339	0.934
18	7049076	C	T	18	7049077	y	y	splicing	LAMA1(NM_005559:exon6:c.768+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.768+1G>A)	.	.	0.999989072007339	0.934
18	7049077	G	A	18	7049078	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon5:c.C768T:p.R256R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.C768T:p.R256R;	1.14318447429901E-4	0.012
18	7049077	G	C	18	7049078	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon5:c.C768G:p.R256R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.C768G:p.R256R;	3.89466093795645E-5	0.168
18	7049077	G	T	18	7049078	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon5:c.C768A:p.R256R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.C768A:p.R256R;	3.23640662913287E-5	0.0
18	7049078	C	A	18	7049079	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.G767T:p.R256L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.G767T:p.R256L;	0.992663098384352	0.9
18	7049078	C	G	18	7049079	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.G767C:p.R256P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.G767C:p.R256P;	0.993784557190265	0.868
18	7049078	C	T	18	7049079	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.G767A:p.R256H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.G767A:p.R256H;	0.974115782910979	0.696
18	7049079	G	A	18	7049080	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.C766T:p.R256C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.C766T:p.R256C;	0.189836028091939	0.448
18	7049079	G	C	18	7049080	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.C766G:p.R256G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.C766G:p.R256G;	4.23989496238096E-4	0.178
18	7049079	G	T	18	7049080	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.C766A:p.R256S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.C766A:p.R256S;	2.30339039342867E-4	0.158
18	7049255	A	C	18	7049256	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.T590G:p.I197S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.T590G:p.I197S;	0.408616625969553	0.338
18	7049255	A	G	18	7049256	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.T590C:p.I197T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.T590C:p.I197T;	0.444813371095177	0.408
18	7049255	A	T	18	7049256	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.T590A:p.I197N;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.T590A:p.I197N;	0.361642294195088	0.34
18	7049256	T	A	18	7049257	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.A589T:p.I197F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.A589T:p.I197F;	0.530095588115516	0.488
18	7049256	T	C	18	7049257	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.A589G:p.I197V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.A589G:p.I197V;	0.470451722464312	0.53
18	7049256	T	G	18	7049257	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon5:c.A589C:p.I197L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon5:c.A589C:p.I197L;	0.67001214558379	0.558
18	7049257	C	A	18	7049258	y	y	splicing	LAMA1(NM_005559:exon6:c.589-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.589-1G>T)	.	.	0.999986675681007	0.942
18	7049257	C	G	18	7049258	y	y	splicing	LAMA1(NM_005559:exon6:c.589-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.589-1G>C)	.	.	0.999986675681007	0.942
18	7049257	C	T	18	7049258	y	y	splicing	LAMA1(NM_005559:exon6:c.589-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.589-1G>A)	.	.	0.999986675681007	0.942
18	7049258	T	A	18	7049259	y	y	splicing	LAMA1(NM_005559:exon6:c.589-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.589-2A>T)	.	.	0.999989917668626	0.94
18	7049258	T	C	18	7049259	y	y	splicing	LAMA1(NM_005559:exon6:c.589-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.589-2A>G)	.	.	0.999989917668626	0.94
18	7049258	T	G	18	7049259	y	y	splicing	LAMA1(NM_005559:exon6:c.589-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon6:c.589-2A>C)	.	.	0.999989917668626	0.94
18	7049259	G	A	18	7049260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00292425940435831	0.036
18	7049259	G	C	18	7049260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999733905620491	0.952
18	7049259	G	T	18	7049260	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.930967047531087	0.764
18	7049260	A	C	18	7049261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.07416641553504E-4	0.05
18	7049260	A	G	18	7049261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.7480390354578E-4	0.09
18	7049260	A	T	18	7049261	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.68781842602512E-5	0.0
18	7049261	A	C	18	7049262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0953603674722275	0.342
18	7049261	A	G	18	7049262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.84997468583694E-4	0.062
18	7049261	A	T	18	7049262	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0291830885383811	0.212
18	7049262	G	A	18	7049263	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.59276234975973E-5	0.002
18	7049262	G	C	18	7049263	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00142209909161415	0.086
18	7049262	G	T	18	7049263	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00273780092692324	0.088
18	7049263	A	C	18	7049264	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999871822780113	0.992
18	7049263	A	G	18	7049264	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.29593332594114E-4	0.058
18	7049263	A	T	18	7049264	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0169035542466695	0.066
18	7049264	T	A	18	7049265	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.67992689493635E-5	0.0
18	7049264	T	C	18	7049265	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.27510899287691E-5	0.0
18	7049264	T	G	18	7049265	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.89930888684382E-5	0.002
18	7049265	G	A	18	7049266	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.36017954417074E-4	0.026
18	7049265	G	C	18	7049266	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00945330589523946	0.218
18	7049265	G	T	18	7049266	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00221772191752129	0.106
18	7049266	A	C	18	7049267	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.615025359914871	0.562
18	7049266	A	G	18	7049267	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.78195533473922E-4	0.116
18	7049266	A	T	18	7049267	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.898376423122048	0.598
18	7049267	A	C	18	7049268	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.468277703419554	0.496
18	7049267	A	G	18	7049268	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0187332197300757	0.156
18	7049267	A	T	18	7049268	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.744685921347003	0.59
18	7049268	G	A	18	7049269	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.57404195716703E-5	0.0
18	7049268	G	C	18	7049269	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.71821990598318E-4	0.092
18	7049268	G	T	18	7049269	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00170221472736453	0.098
18	7050685	A	C	18	7050686	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.57530626779289E-5	0.0
18	7050685	A	G	18	7050686	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.13120986917194E-5	0.0
18	7050685	A	T	18	7050686	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.13120986917194E-5	0.0
18	7050686	T	A	18	7050687	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.12328182789939E-4	0.002
18	7050686	T	C	18	7050687	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.80150485961122E-5	0.008
18	7050686	T	G	18	7050687	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.69307272413568E-5	0.006
18	7050687	A	C	18	7050688	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00415114735544752	0.21
18	7050687	A	G	18	7050688	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00908876838164417	0.324
18	7050687	A	T	18	7050688	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0177891608411694	0.252
18	7050688	C	A	18	7050689	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.964460986344239	0.578
18	7050688	C	G	18	7050689	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.995890843315027	0.728
18	7050688	C	T	18	7050689	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.792525330041722	0.51
18	7050689	C	A	18	7050690	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.50268806710599E-5	0.02
18	7050689	C	G	18	7050690	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.23514679943002E-5	0.036
18	7050689	C	T	18	7050690	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.21466829607694E-4	0.14
18	7050690	T	A	18	7050691	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.661274838010943	0.44
18	7050690	T	C	18	7050691	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0233773852092926	0.196
18	7050690	T	G	18	7050691	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.711574057783825	0.388
18	7050691	A	C	18	7050692	y	y	splicing	LAMA1(NM_005559:exon5:c.588+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.588+2T>G)	.	.	0.999988247793601	0.926
18	7050691	A	G	18	7050692	y	y	splicing	LAMA1(NM_005559:exon5:c.588+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.588+2T>C)	.	.	0.988163425542712	0.646
18	7050691	A	T	18	7050692	y	y	splicing	LAMA1(NM_005559:exon5:c.588+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.588+2T>A)	.	.	0.999988247793601	0.926
18	7050692	C	A	18	7050693	y	y	splicing	LAMA1(NM_005559:exon5:c.588+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.588+1G>T)	.	.	0.999985532734767	0.934
18	7050692	C	G	18	7050693	y	y	splicing	LAMA1(NM_005559:exon5:c.588+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.588+1G>C)	.	.	0.999985532734767	0.934
18	7050692	C	T	18	7050693	y	y	splicing	LAMA1(NM_005559:exon5:c.588+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.588+1G>A)	.	.	0.999985532734767	0.934
18	7050693	C	A	18	7050694	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.G588T:p.E196D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.G588T:p.E196D;	0.999978392344493	0.99
18	7050693	C	G	18	7050694	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.G588C:p.E196D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.G588C:p.E196D;	0.999993020836646	0.984
18	7050693	C	T	18	7050694	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon4:c.G588A:p.E196E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.G588A:p.E196E;	0.999553378681663	0.964
18	7050694	T	A	18	7050695	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.A587T:p.E196V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.A587T:p.E196V;	0.999641337062351	0.986
18	7050694	T	C	18	7050695	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.A587G:p.E196G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.A587G:p.E196G;	0.999876496809244	0.988
18	7050694	T	G	18	7050695	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.A587C:p.E196A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.A587C:p.E196A;	0.996373042321464	0.966
18	7050695	C	A	18	7050696	y	y	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon4:c.G586T:p.E196X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon4:c.G586T:p.E196X;	0.449416312946223	0.596
18	7050695	C	G	18	7050696	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.G586C:p.E196Q;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.G586C:p.E196Q;	0.238116169645607	0.418
18	7050695	C	T	18	7050696	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.G586A:p.E196K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.G586A:p.E196K;	0.20399666378132	0.568
18	7050934	A	C	18	7050935	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.T347G:p.V116G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.T347G:p.V116G;	0.828328834723127	0.59
18	7050934	A	G	18	7050935	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.T347C:p.V116A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.T347C:p.V116A;	0.840229011525914	0.612
18	7050934	A	T	18	7050935	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.T347A:p.V116D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.T347A:p.V116D;	0.510909637493739	0.59
18	7050935	C	A	18	7050936	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.G346T:p.V116F;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.G346T:p.V116F;	0.997736731664226	0.948
18	7050935	C	G	18	7050936	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.G346C:p.V116L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.G346C:p.V116L;	0.996947127678277	0.93
18	7050935	C	T	18	7050936	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon4:c.G346A:p.V116I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon4:c.G346A:p.V116I;	0.343871456181583	0.408
18	7050936	C	A	18	7050937	y	y	splicing	LAMA1(NM_005559:exon5:c.346-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.346-1G>T)	.	.	0.999990361384395	0.938
18	7050936	C	G	18	7050937	y	y	splicing	LAMA1(NM_005559:exon5:c.346-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.346-1G>C)	.	.	0.999990361384395	0.938
18	7050936	C	T	18	7050937	y	y	splicing	LAMA1(NM_005559:exon5:c.346-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.346-1G>A)	.	.	0.999990361384395	0.938
18	7050937	T	A	18	7050938	y	y	splicing	LAMA1(NM_005559:exon5:c.346-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.346-2A>T)	.	.	0.999988247793601	0.928
18	7050937	T	C	18	7050938	y	y	splicing	LAMA1(NM_005559:exon5:c.346-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.346-2A>G)	.	.	0.999988247793601	0.928
18	7050937	T	G	18	7050938	y	y	splicing	LAMA1(NM_005559:exon5:c.346-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon5:c.346-2A>C)	.	.	0.999988247793601	0.928
18	7050938	G	A	18	7050939	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0025404337320975	0.058
18	7050938	G	C	18	7050939	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999879330748548	0.914
18	7050938	G	T	18	7050939	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.375199670071355	0.556
18	7050939	A	C	18	7050940	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.50718716615714E-5	0.012
18	7050939	A	G	18	7050940	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.91792023659228E-5	0.0
18	7050939	A	T	18	7050940	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.65670166110544E-5	0.002
18	7050940	A	C	18	7050941	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.501277652563653	0.376
18	7050940	A	G	18	7050941	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	7.7348542286288E-4	0.06
18	7050940	A	T	18	7050941	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.390312856192458	0.378
18	7050941	A	C	18	7050942	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.402147464563241	0.488
18	7050941	A	G	18	7050942	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.15369956774706E-4	0.034
18	7050941	A	T	18	7050942	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.120122971770932	0.376
18	7050942	C	A	18	7050943	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.25343776184483E-5	0.034
18	7050942	C	G	18	7050943	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.24780417595587E-5	0.056
18	7050942	C	T	18	7050943	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.81996520971765E-5	0.002
18	7050943	A	C	18	7050944	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.74990294097107E-4	0.074
18	7050943	A	G	18	7050944	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.47037601933366E-5	0.0
18	7050943	A	T	18	7050944	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.950673986947324	0.598
18	7050944	A	C	18	7050945	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0166604016550759	0.366
18	7050944	A	G	18	7050945	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.48393034688971E-4	0.018
18	7050944	A	T	18	7050945	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.103072959657251	0.426
18	7050945	A	C	18	7050946	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.196768346705699	0.496
18	7050945	A	G	18	7050946	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	5.40336303514369E-4	0.036
18	7050945	A	T	18	7050946	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.186388233610389	0.504
18	7050946	G	A	18	7050947	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.2858210768421E-5	0.004
18	7050946	G	C	18	7050947	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.26251866791189E-4	0.01
18	7050946	G	T	18	7050947	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	3.99642572248744E-4	0.056
18	7050947	A	C	18	7050948	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0100223740095021	0.356
18	7050947	A	G	18	7050948	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.38538658281815E-5	0.006
18	7050947	A	T	18	7050948	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0268244126515633	0.388
18	7079966	T	A	18	7079967	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	4.7565840239015E-4	0.054
18	7079966	T	C	18	7079967	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	8.28167278393268E-5	0.006
18	7079966	T	G	18	7079967	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	4.0962464768387E-4	0.014
18	7079967	C	A	18	7079968	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.29680868143823E-5	0.0
18	7079967	C	G	18	7079968	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.08882707724309E-5	0.0
18	7079967	C	T	18	7079968	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.08882707724309E-5	0.0
18	7079968	A	C	18	7079969	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.00361951244156735	0.266
18	7079968	A	G	18	7079969	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.0242398970818734	0.346
18	7079968	A	T	18	7079969	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.0190827101509903	0.314
18	7079969	C	A	18	7079970	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.997257656725238	0.858
18	7079969	C	G	18	7079970	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.9946004955073	0.81
18	7079969	C	T	18	7079970	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.965319132232876	0.648
18	7079970	C	A	18	7079971	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	3.75938273360197E-4	0.058
18	7079970	C	G	18	7079971	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	4.14857484665398E-4	0.124
18	7079970	C	T	18	7079971	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.44606252853173E-4	0.048
18	7079971	T	A	18	7079972	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.259856722247033	0.46
18	7079971	T	C	18	7079972	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.00738478335261866	0.196
18	7079971	T	G	18	7079972	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.179199789957254	0.378
18	7079972	A	C	18	7079973	y	n	splicing	LAMA1(NM_005559:exon4:c.345+2T>G)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999988247793601	0.928
18	7079972	A	G	18	7079973	y	n	splicing	LAMA1(NM_005559:exon4:c.345+2T>C)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.992783534660112	0.682
18	7079972	A	T	18	7079973	y	n	splicing	LAMA1(NM_005559:exon4:c.345+2T>A)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999988247793601	0.928
18	7079973	C	A	18	7079974	y	n	splicing	LAMA1(NM_005559:exon4:c.345+1G>T)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999985532734767	0.936
18	7079973	C	G	18	7079974	y	n	splicing	LAMA1(NM_005559:exon4:c.345+1G>C)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999985532734767	0.936
18	7079973	C	T	18	7079974	y	n	splicing	LAMA1(NM_005559:exon4:c.345+1G>A)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999985532734767	0.936
18	7079974	C	A	18	7079975	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.G345T:p.Q115H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.G345T:p.Q115H;	0.999973147473037	0.996
18	7079974	C	G	18	7079975	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.G345C:p.Q115H;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.G345C:p.Q115H;	0.999989575085533	1.0
18	7079974	C	T	18	7079975	y	n	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon3:c.G345A:p.Q115Q;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.G345A:p.Q115Q;	0.999914702989194	0.992
18	7079975	T	A	18	7079976	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.A344T:p.Q115L;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A344T:p.Q115L;	0.999783617592529	0.982
18	7079975	T	C	18	7079976	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.A344G:p.Q115R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A344G:p.Q115R;	0.999721342433597	0.996
18	7079975	T	G	18	7079976	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.A344C:p.Q115P;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A344C:p.Q115P;	0.994430446330339	0.942
18	7079976	G	A	18	7079977	y	n	exonic	LAMA1	stopgain SNV	LAMA1:NM_005559:exon3:c.C343T:p.Q115X;	exonic	ENSG00000101680	stopgain SNV	ENSG00000101680:ENST00000389658:exon3:c.C343T:p.Q115X;	0.993875260010014	0.892
18	7079976	G	C	18	7079977	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.C343G:p.Q115E;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.C343G:p.Q115E;	0.969833698804106	0.69
18	7079976	G	T	18	7079977	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.C343A:p.Q115K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.C343A:p.Q115K;	0.937501781564135	0.858
18	7080085	T	A	18	7080086	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.A234T:p.E78D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A234T:p.E78D;	3.84039721147277E-5	0.114
18	7080085	T	C	18	7080086	y	n	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon3:c.A234G:p.E78E;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A234G:p.E78E;	2.6131115406981E-4	0.024
18	7080085	T	G	18	7080086	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.A234C:p.E78D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A234C:p.E78D;	4.40173655468175E-5	0.09
18	7080086	T	A	18	7080087	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.A233T:p.E78V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A233T:p.E78V;	0.261514804609753	0.598
18	7080086	T	C	18	7080087	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.A233G:p.E78G;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A233G:p.E78G;	0.569223437668226	0.722
18	7080086	T	G	18	7080087	y	n	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon3:c.A233C:p.E78A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon3:c.A233C:p.E78A;	0.241326327119634	0.674
18	7080087	C	A	18	7080088	y	n	splicing	LAMA1(NM_005559:exon4:c.233-1G>T)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999985532734767	0.936
18	7080087	C	G	18	7080088	y	n	splicing	LAMA1(NM_005559:exon4:c.233-1G>C)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999985532734767	0.936
18	7080087	C	T	18	7080088	y	n	splicing	LAMA1(NM_005559:exon4:c.233-1G>A)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999985532734767	0.936
18	7080088	T	A	18	7080089	y	n	splicing	LAMA1(NM_005559:exon4:c.233-2A>T)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999988247793601	0.928
18	7080088	T	C	18	7080089	y	n	splicing	LAMA1(NM_005559:exon4:c.233-2A>G)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999988247793601	0.926
18	7080088	T	G	18	7080089	y	n	splicing	LAMA1(NM_005559:exon4:c.233-2A>C)	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999988247793601	0.926
18	7080089	G	A	18	7080090	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.986206527187332	0.458
18	7080089	G	C	18	7080090	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999942672156653	0.974
18	7080089	G	T	18	7080090	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.999723178359075	0.954
18	7080090	T	A	18	7080091	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.81737597014166E-4	0.034
18	7080090	T	C	18	7080091	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.922550814538473	0.57
18	7080090	T	G	18	7080091	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	2.0280616691811E-4	0.012
18	7080091	T	A	18	7080092	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	4.14772587027502E-5	0.01
18	7080091	T	C	18	7080092	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	3.77570333137421E-4	0.026
18	7080091	T	G	18	7080092	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	9.55083562873927E-5	0.026
18	7080092	G	A	18	7080093	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.09730218199613E-5	0.0
18	7080092	G	C	18	7080093	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	9.70005480865506E-4	0.046
18	7080092	G	T	18	7080093	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	4.15927075626284E-4	0.014
18	7080093	A	C	18	7080094	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.00667244720611751	0.176
18	7080093	A	G	18	7080094	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	7.29900702324738E-4	0.012
18	7080093	A	T	18	7080094	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.00680328245693074	0.166
18	7080094	A	C	18	7080095	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	9.43190562139594E-4	0.086
18	7080094	A	G	18	7080095	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	7.50630383614351E-5	0.0
18	7080094	A	T	18	7080095	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.00176839537033249	0.142
18	7080095	A	C	18	7080096	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.00258020355940626	0.092
18	7080095	A	G	18	7080096	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.21791789566758E-4	0.002
18	7080095	A	T	18	7080096	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.00294638602055528	0.17
18	7080096	G	A	18	7080097	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	2.11378583838772E-4	0.026
18	7080096	G	C	18	7080097	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	7.0417274211251E-4	0.066
18	7080096	G	T	18	7080097	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	0.00174604263126703	0.084
18	7080097	A	C	18	7080098	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.74506012011285E-4	0.08
18	7080097	A	G	18	7080098	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	7.19028289208584E-5	0.022
18	7080097	A	T	18	7080098	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	5.8833052254116E-4	0.12
18	7080098	A	C	18	7080099	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	1.93583165373539E-4	0.078
18	7080098	A	G	18	7080099	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	5.155550626797E-5	0.002
18	7080098	A	T	18	7080099	y	n	intronic	LAMA1	.	.	ncRNA_exonic	ENSG00000264475	.	.	8.65017395710442E-5	0.036
18	7080455	G	A	18	7080456	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon2:c.C63T:p.G21G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon2:c.C63T:p.G21G;	5.93911315881691E-5	0.028
18	7080455	G	C	18	7080456	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon2:c.C63G:p.G21G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon2:c.C63G:p.G21G;	2.36238360488387E-4	0.024
18	7080455	G	T	18	7080456	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon2:c.C63A:p.G21G;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon2:c.C63A:p.G21G;	1.03343130974049E-4	0.024
18	7080456	C	A	18	7080457	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon2:c.G62T:p.G21V;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon2:c.G62T:p.G21V;	0.999799267099579	0.98
18	7080456	C	G	18	7080457	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon2:c.G62C:p.G21A;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon2:c.G62C:p.G21A;	0.999834530359585	0.984
18	7080456	C	T	18	7080457	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon2:c.G62A:p.G21D;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon2:c.G62A:p.G21D;	0.999615815605881	0.816
18	7080457	C	A	18	7080458	y	y	splicing	LAMA1(NM_005559:exon3:c.62-1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon3:c.62-1G>T)	.	.	0.999983677848485	0.944
18	7080457	C	G	18	7080458	y	y	splicing	LAMA1(NM_005559:exon3:c.62-1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon3:c.62-1G>C)	.	.	0.999983677848485	0.944
18	7080457	C	T	18	7080458	y	y	splicing	LAMA1(NM_005559:exon3:c.62-1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon3:c.62-1G>A)	.	.	0.999983677848485	0.944
18	7080458	T	A	18	7080459	y	y	splicing	LAMA1(NM_005559:exon3:c.62-2A>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon3:c.62-2A>T)	.	.	0.999986741007567	0.944
18	7080458	T	C	18	7080459	y	y	splicing	LAMA1(NM_005559:exon3:c.62-2A>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon3:c.62-2A>G)	.	.	0.999986741007567	0.944
18	7080458	T	G	18	7080459	y	y	splicing	LAMA1(NM_005559:exon3:c.62-2A>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon3:c.62-2A>C)	.	.	0.999986741007567	0.944
18	7080459	G	A	18	7080460	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.102444888022334	0.116
18	7080459	G	C	18	7080460	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999966693240802	0.938
18	7080459	G	T	18	7080460	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.998785597592074	0.856
18	7080460	A	C	18	7080461	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00174937879001074	0.036
18	7080460	A	G	18	7080461	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.30386279983451E-4	0.056
18	7080460	A	T	18	7080461	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.16098828600936E-4	0.0
18	7080461	A	C	18	7080462	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.887540966119222	0.5
18	7080461	A	G	18	7080462	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00317081104457949	0.108
18	7080461	A	T	18	7080462	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.481619452480085	0.44
18	7080462	A	C	18	7080463	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.128278717016637	0.268
18	7080462	A	G	18	7080463	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.42671597081168E-4	0.01
18	7080462	A	T	18	7080463	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0218511524530346	0.188
18	7080463	G	A	18	7080464	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.4219075453702E-5	0.0
18	7080463	G	C	18	7080464	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999577125364504	0.978
18	7080463	G	T	18	7080464	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.45533876413805E-4	0.034
18	7080464	T	A	18	7080465	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.33684777350849E-5	0.006
18	7080464	T	C	18	7080465	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	9.49670331258397E-6	0.0
18	7080464	T	G	18	7080465	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.42774012946856E-5	0.008
18	7080465	G	A	18	7080466	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	4.43204614839505E-5	0.002
18	7080465	G	C	18	7080466	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00104555684508399	0.056
18	7080465	G	T	18	7080466	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.03237843105069E-4	0.05
18	7080466	A	C	18	7080467	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.208106529373859	0.554
18	7080466	A	G	18	7080467	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00841189166132349	0.11
18	7080466	A	T	18	7080467	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.44621945234609	0.65
18	7080467	A	C	18	7080468	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0572190551742822	0.322
18	7080467	A	G	18	7080468	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00164631951026026	0.122
18	7080467	A	T	18	7080468	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.408751422828771	0.304
18	7080468	A	C	18	7080469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.014807135592334	0.34
18	7080468	A	G	18	7080469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00129366189244757	0.044
18	7080468	A	T	18	7080469	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.0227533555398728	0.31
18	7117651	G	A	18	7117652	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.95145951409719E-5	0.0
18	7117651	G	C	18	7117652	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.95145951409719E-5	0.0
18	7117651	G	T	18	7117652	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.95145951409719E-5	0.0
18	7117652	G	A	18	7117653	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.81631343159299E-4	0.086
18	7117652	G	C	18	7117653	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.37561524994984E-4	0.004
18	7117652	G	T	18	7117653	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	2.44785198696377E-4	0.014
18	7117653	G	A	18	7117654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	6.63846425585347E-5	0.0
18	7117653	G	C	18	7117654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	8.51261392978489E-5	0.024
18	7117653	G	T	18	7117654	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	1.60090316515903E-4	0.01
18	7117654	C	A	18	7117655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.99962032389697	0.918
18	7117654	C	G	18	7117655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999492203937706	0.79
18	7117654	C	T	18	7117655	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.999764305744751	0.904
18	7117655	T	A	18	7117656	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.997311944305756	0.684
18	7117655	T	C	18	7117656	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.979485515499713	0.744
18	7117655	T	G	18	7117656	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.95879581375321	0.564
18	7117656	C	A	18	7117657	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.943311755389803	0.664
18	7117656	C	G	18	7117657	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.977025071708211	0.748
18	7117656	C	T	18	7117657	y	y	intronic	LAMA1	.	.	intronic	ENSG00000101680	.	.	0.00326090538880414	0.016
18	7117657	A	C	18	7117658	y	y	splicing	LAMA1(NM_005559:exon2:c.61+2T>G)	.	.	splicing	ENSG00000101680(ENST00000389658:exon2:c.61+2T>G)	.	.	0.999986514762331	0.854
18	7117657	A	G	18	7117658	y	y	splicing	LAMA1(NM_005559:exon2:c.61+2T>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon2:c.61+2T>C)	.	.	0.999826931496019	0.804
18	7117657	A	T	18	7117658	y	y	splicing	LAMA1(NM_005559:exon2:c.61+2T>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon2:c.61+2T>A)	.	.	0.99998778641874	0.872
18	7117658	C	A	18	7117659	y	y	splicing	LAMA1(NM_005559:exon2:c.61+1G>T)	.	.	splicing	ENSG00000101680(ENST00000389658:exon2:c.61+1G>T)	.	.	0.999990611969007	0.896
18	7117658	C	G	18	7117659	y	y	splicing	LAMA1(NM_005559:exon2:c.61+1G>C)	.	.	splicing	ENSG00000101680(ENST00000389658:exon2:c.61+1G>C)	.	.	0.999990611969007	0.896
18	7117658	C	T	18	7117659	y	y	splicing	LAMA1(NM_005559:exon2:c.61+1G>A)	.	.	splicing	ENSG00000101680(ENST00000389658:exon2:c.61+1G>A)	.	.	0.999984274955786	0.912
18	7117659	C	A	18	7117660	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon1:c.G61T:p.G21C;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.G61T:p.G21C;	0.999846848765075	0.99
18	7117659	C	G	18	7117660	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon1:c.G61C:p.G21R;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.G61C:p.G21R;	0.999993999652508	0.974
18	7117659	C	T	18	7117660	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon1:c.G61A:p.G21S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.G61A:p.G21S;	0.99988431722077	0.992
18	7117660	T	A	18	7117661	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon1:c.A60T:p.R20S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.A60T:p.R20S;	0.983727531939279	0.882
18	7117660	T	C	18	7117661	y	y	exonic	LAMA1	synonymous SNV	LAMA1:NM_005559:exon1:c.A60G:p.R20R;	exonic	ENSG00000101680	synonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.A60G:p.R20R;	0.932169703570404	0.784
18	7117660	T	G	18	7117661	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon1:c.A60C:p.R20S;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.A60C:p.R20S;	0.940632802830128	0.808
18	7117661	C	A	18	7117662	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon1:c.G59T:p.R20I;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.G59T:p.R20I;	0.00166659917354141	0.036
18	7117661	C	G	18	7117662	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon1:c.G59C:p.R20T;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.G59C:p.R20T;	1.98773301817995E-5	0.002
18	7117661	C	T	18	7117662	y	y	exonic	LAMA1	nonsynonymous SNV	LAMA1:NM_005559:exon1:c.G59A:p.R20K;	exonic	ENSG00000101680	nonsynonymous SNV	ENSG00000101680:ENST00000389658:exon1:c.G59A:p.R20K;	1.31624430756101E-5	0.002
18	7567887	C	A	18	7567889	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon1:c.C71A:p.S24X;PTPRM:NM_001105244:exon1:c.C71A:p.S24X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon1:c.C71A:p.S24X;ENSG00000173482:ENST00000580170:exon1:c.C71A:p.S24X;ENSG00000173482:ENST00000400060:exon1:c.C71A:p.S24X;	0.142178857081125	0.584
18	7567887	C	G	18	7567889	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon1:c.C71G:p.S24X;PTPRM:NM_001105244:exon1:c.C71G:p.S24X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon1:c.C71G:p.S24X;ENSG00000173482:ENST00000580170:exon1:c.C71G:p.S24X;ENSG00000173482:ENST00000400060:exon1:c.C71G:p.S24X;	0.104531539409957	0.414
18	7567887	C	T	18	7567889	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon1:c.C71T:p.S24L;PTPRM:NM_001105244:exon1:c.C71T:p.S24L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon1:c.C71T:p.S24L;ENSG00000173482:ENST00000580170:exon1:c.C71T:p.S24L;ENSG00000173482:ENST00000400060:exon1:c.C71T:p.S24L;	0.836617577796638	0.358
18	7567888	A	C	18	7567890	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon1:c.A72C:p.S24S;PTPRM:NM_001105244:exon1:c.A72C:p.S24S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon1:c.A72C:p.S24S;ENSG00000173482:ENST00000580170:exon1:c.A72C:p.S24S;ENSG00000173482:ENST00000400060:exon1:c.A72C:p.S24S;	0.700818358339736	0.712
18	7567888	A	G	18	7567890	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon1:c.A72G:p.S24S;PTPRM:NM_001105244:exon1:c.A72G:p.S24S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon1:c.A72G:p.S24S;ENSG00000173482:ENST00000580170:exon1:c.A72G:p.S24S;ENSG00000173482:ENST00000400060:exon1:c.A72G:p.S24S;	0.839214310869755	0.782
18	7567888	A	T	18	7567890	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon1:c.A72T:p.S24S;PTPRM:NM_001105244:exon1:c.A72T:p.S24S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon1:c.A72T:p.S24S;ENSG00000173482:ENST00000580170:exon1:c.A72T:p.S24S;ENSG00000173482:ENST00000400060:exon1:c.A72T:p.S24S;	0.698286037882551	0.532
18	7567889	G	A	18	7567891	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon1:c.G73A:p.G25S;PTPRM:NM_001105244:exon1:c.G73A:p.G25S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon1:c.G73A:p.G25S;ENSG00000173482:ENST00000580170:exon1:c.G73A:p.G25S;ENSG00000173482:ENST00000400060:exon1:c.G73A:p.G25S;	0.998847872887008	0.954
18	7567889	G	C	18	7567891	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon1:c.G73C:p.G25R;PTPRM:NM_001105244:exon1:c.G73C:p.G25R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon1:c.G73C:p.G25R;ENSG00000173482:ENST00000580170:exon1:c.G73C:p.G25R;ENSG00000173482:ENST00000400060:exon1:c.G73C:p.G25R;	0.99947461552968	0.956
18	7567889	G	T	18	7567891	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon1:c.G73T:p.G25C;PTPRM:NM_001105244:exon1:c.G73T:p.G25C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon1:c.G73T:p.G25C;ENSG00000173482:ENST00000580170:exon1:c.G73T:p.G25C;ENSG00000173482:ENST00000400060:exon1:c.G73T:p.G25C;	0.999179613894489	0.976
18	7567890	G	A	18	7567892	y	y	splicing	PTPRM(NM_002845:exon1:c.73+1G>A;NM_001105244:exon1:c.73+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon1:c.73+1G>A;ENST00000580170:exon1:c.73+1G>A;ENST00000400060:exon1:c.73+1G>A)	.	.	0.999982313960041	0.938
18	7567890	G	C	18	7567892	y	y	splicing	PTPRM(NM_002845:exon1:c.73+1G>C;NM_001105244:exon1:c.73+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon1:c.73+1G>C;ENST00000580170:exon1:c.73+1G>C;ENST00000400060:exon1:c.73+1G>C)	.	.	0.999982313960041	0.944
18	7567890	G	T	18	7567892	y	y	splicing	PTPRM(NM_002845:exon1:c.73+1G>T;NM_001105244:exon1:c.73+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon1:c.73+1G>T;ENST00000580170:exon1:c.73+1G>T;ENST00000400060:exon1:c.73+1G>T)	.	.	0.999982313960041	0.938
18	7567891	T	A	18	7567893	y	y	splicing	PTPRM(NM_002845:exon1:c.73+2T>A;NM_001105244:exon1:c.73+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon1:c.73+2T>A;ENST00000580170:exon1:c.73+2T>A;ENST00000400060:exon1:c.73+2T>A)	.	.	0.999965448064069	0.932
18	7567891	T	C	18	7567893	y	y	splicing	PTPRM(NM_002845:exon1:c.73+2T>C;NM_001105244:exon1:c.73+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon1:c.73+2T>C;ENST00000580170:exon1:c.73+2T>C;ENST00000400060:exon1:c.73+2T>C)	.	.	0.955718323028691	0.59
18	7567891	T	G	18	7567893	y	y	splicing	PTPRM(NM_002845:exon1:c.73+2T>G;NM_001105244:exon1:c.73+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon1:c.73+2T>G;ENST00000580170:exon1:c.73+2T>G;ENST00000400060:exon1:c.73+2T>G)	.	.	0.999965448064069	0.94
18	7567892	A	C	18	7567894	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.924069997246581	0.662
18	7567892	A	G	18	7567894	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00106007466105999	0.058
18	7567892	A	T	18	7567894	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.938367328775913	0.662
18	7567893	A	C	18	7567895	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.349303675710227	0.476
18	7567893	A	G	18	7567895	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.624430038945404	0.5
18	7567893	A	T	18	7567895	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.649010636821098	0.506
18	7567894	G	A	18	7567896	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.981539669675305	0.608
18	7567894	G	C	18	7567896	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.970040240606995	0.592
18	7567894	G	T	18	7567896	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.981030760272429	0.724
18	7567895	C	A	18	7567897	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.75043284947138E-4	0.02
18	7567895	C	G	18	7567897	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.81586555393566E-4	0.036
18	7567895	C	T	18	7567897	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.82069065024801E-4	0.044
18	7567896	G	A	18	7567898	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.10760790215111E-4	0.014
18	7567896	G	C	18	7567898	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.09576283849341E-4	0.026
18	7567896	G	T	18	7567898	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.44549828553928E-4	0.008
18	7567897	G	A	18	7567899	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.08739841361144E-4	0.006
18	7567897	G	C	18	7567899	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.69884688945688E-4	0.004
18	7567897	G	T	18	7567899	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.69884688945688E-4	0.008
18	7755280	G	A	18	7755282	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	3.57076726553018E-5	0.0
18	7755280	G	C	18	7755282	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	3.57076726553018E-5	0.0
18	7755280	G	T	18	7755282	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	3.57076726553018E-5	0.0
18	7755281	A	C	18	7755283	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	8.64905445396362E-5	0.0
18	7755281	A	G	18	7755283	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	4.7586829694842E-5	0.0
18	7755281	A	T	18	7755283	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	9.54583771157E-5	0.0
18	7755282	G	A	18	7755284	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	2.6128894829304E-5	0.0
18	7755282	G	C	18	7755284	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	2.6128894829304E-5	0.002
18	7755282	G	T	18	7755284	n	y	intronic	PTPRM	.	.	UTR5	ENSG00000173482	.	.	2.6128894829304E-5	0.002
18	7755283	G	A	18	7755285	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482	.	.	2.65388135286213E-5	0.002
18	7755283	G	C	18	7755285	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482	.	.	2.65388135286213E-5	0.002
18	7755283	G	T	18	7755285	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482	.	.	2.65388135286213E-5	0.002
18	7755284	T	A	18	7755286	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482	.	.	1.03551888513283E-4	0.022
18	7755284	T	C	18	7755286	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482	.	.	2.27129477912462E-4	0.022
18	7755284	T	G	18	7755286	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482	.	.	2.27129477912462E-4	0.022
18	7755285	G	A	18	7755287	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.52932449848953E-5	0.002
18	7755285	G	C	18	7755287	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.52932449848953E-5	0.004
18	7755285	G	T	18	7755287	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.52932449848953E-5	0.006
18	7755286	A	C	18	7755288	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.38118228050303E-4	0.022
18	7755286	A	G	18	7755288	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.38118228050303E-4	0.022
18	7755286	A	T	18	7755288	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.16905836748777E-4	0.022
18	7755287	G	A	18	7755289	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.87872098031522E-5	0.0
18	7755287	G	C	18	7755289	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.15849948155271E-5	0.0
18	7755287	G	T	18	7755289	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.15849948155271E-5	0.0
18	7755288	T	A	18	7755290	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.256915070725E-5	0.0
18	7755288	T	C	18	7755290	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.256915070725E-5	0.0
18	7755288	T	G	18	7755290	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.256915070725E-5	0.0
18	7755289	A	C	18	7755291	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.8057869992506E-5	0.032
18	7755289	A	G	18	7755291	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.8057869992506E-5	0.032
18	7755289	A	T	18	7755291	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.78929785447708E-5	0.032
18	7755290	T	A	18	7755292	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.11657407965104E-4	0.006
18	7755290	T	C	18	7755292	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.37205498882069E-5	0.004
18	7755290	T	G	18	7755292	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.37205498882069E-5	0.004
18	7774135	T	A	18	7774137	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00232436381054307	0.206
18	7774135	T	C	18	7774137	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.50466344351819E-5	0.004
18	7774135	T	G	18	7774137	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00208662749218753	0.216
18	7774136	T	A	18	7774138	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00637011693339024	0.212
18	7774136	T	C	18	7774138	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.75035716345571E-4	0.004
18	7774136	T	G	18	7774138	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00500876556587454	0.194
18	7774137	T	A	18	7774139	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147645336290789	0.078
18	7774137	T	C	18	7774139	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.202281290338E-5	0.0
18	7774137	T	G	18	7774139	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00366740228326851	0.1
18	7774138	A	C	18	7774140	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.04373495795811E-5	0.0
18	7774138	A	G	18	7774140	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.55390911010115E-5	0.01
18	7774138	A	T	18	7774140	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.00507180511518E-5	0.0
18	7774139	C	A	18	7774141	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.69587317872732E-5	0.044
18	7774139	C	G	18	7774141	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997504521504002	0.952
18	7774139	C	T	18	7774141	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.85481721551316E-5	0.004
18	7774140	A	C	18	7774142	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.70328330746583E-5	0.002
18	7774140	A	G	18	7774142	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.48306501328221E-5	0.0
18	7774140	A	T	18	7774142	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.87849471545531E-5	0.0
18	7774141	T	A	18	7774143	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00103640389817909	0.04
18	7774141	T	C	18	7774143	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.94777466159115E-5	0.0
18	7774141	T	G	18	7774143	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.966174860131275	0.906
18	7774142	T	A	18	7774144	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.583473759821092	0.474
18	7774142	T	C	18	7774144	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00284753630303575	0.074
18	7774142	T	G	18	7774144	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.572277293229143	0.472
18	7774143	T	A	18	7774145	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.10493146847077E-5	0.004
18	7774143	T	C	18	7774145	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.49510430556061E-5	0.0
18	7774143	T	G	18	7774145	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.88527164013898E-4	0.004
18	7774144	T	A	18	7774146	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00795410630310324	0.16
18	7774144	T	C	18	7774146	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.55024761491839E-5	0.032
18	7774144	T	G	18	7774146	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.717330339195763	0.602
18	7774145	A	C	18	7774147	y	y	splicing	PTPRM(NM_002845:exon2:c.74-2A>C;NM_001105244:exon2:c.74-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.74-2A>C;ENST00000580170:exon2:c.74-2A>C;ENST00000400060:exon2:c.74-2A>C)	.	.	0.999988247793601	0.928
18	7774145	A	G	18	7774147	y	y	splicing	PTPRM(NM_002845:exon2:c.74-2A>G;NM_001105244:exon2:c.74-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.74-2A>G;ENST00000580170:exon2:c.74-2A>G;ENST00000400060:exon2:c.74-2A>G)	.	.	0.999988247793601	0.928
18	7774145	A	T	18	7774147	y	y	splicing	PTPRM(NM_002845:exon2:c.74-2A>T;NM_001105244:exon2:c.74-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.74-2A>T;ENST00000580170:exon2:c.74-2A>T;ENST00000400060:exon2:c.74-2A>T)	.	.	0.999988247793601	0.928
18	7774146	G	A	18	7774148	y	y	splicing	PTPRM(NM_002845:exon2:c.74-1G>A;NM_001105244:exon2:c.74-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.74-1G>A;ENST00000580170:exon2:c.74-1G>A;ENST00000400060:exon2:c.74-1G>A)	.	.	0.999990361384395	0.938
18	7774146	G	C	18	7774148	y	y	splicing	PTPRM(NM_002845:exon2:c.74-1G>C;NM_001105244:exon2:c.74-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.74-1G>C;ENST00000580170:exon2:c.74-1G>C;ENST00000400060:exon2:c.74-1G>C)	.	.	0.999990361384395	0.936
18	7774146	G	T	18	7774148	y	y	splicing	PTPRM(NM_002845:exon2:c.74-1G>T;NM_001105244:exon2:c.74-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.74-1G>T;ENST00000580170:exon2:c.74-1G>T;ENST00000400060:exon2:c.74-1G>T)	.	.	0.999990361384395	0.936
18	7774147	G	A	18	7774149	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon2:c.G74A:p.G25D;PTPRM:NM_001105244:exon2:c.G74A:p.G25D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.G74A:p.G25D;ENSG00000173482:ENST00000580170:exon2:c.G74A:p.G25D;ENSG00000173482:ENST00000400060:exon2:c.G74A:p.G25D;	0.996919763227523	0.894
18	7774147	G	C	18	7774149	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon2:c.G74C:p.G25A;PTPRM:NM_001105244:exon2:c.G74C:p.G25A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.G74C:p.G25A;ENSG00000173482:ENST00000580170:exon2:c.G74C:p.G25A;ENSG00000173482:ENST00000400060:exon2:c.G74C:p.G25A;	0.999476527089778	0.858
18	7774147	G	T	18	7774149	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon2:c.G74T:p.G25V;PTPRM:NM_001105244:exon2:c.G74T:p.G25V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.G74T:p.G25V;ENSG00000173482:ENST00000580170:exon2:c.G74T:p.G25V;ENSG00000173482:ENST00000400060:exon2:c.G74T:p.G25V;	0.999791999813507	0.942
18	7774148	T	A	18	7774150	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon2:c.T75A:p.G25G;PTPRM:NM_001105244:exon2:c.T75A:p.G25G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.T75A:p.G25G;ENSG00000173482:ENST00000580170:exon2:c.T75A:p.G25G;ENSG00000173482:ENST00000400060:exon2:c.T75A:p.G25G;	2.83012385688749E-4	0.016
18	7774148	T	C	18	7774150	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon2:c.T75C:p.G25G;PTPRM:NM_001105244:exon2:c.T75C:p.G25G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.T75C:p.G25G;ENSG00000173482:ENST00000580170:exon2:c.T75C:p.G25G;ENSG00000173482:ENST00000400060:exon2:c.T75C:p.G25G;	3.14627664868278E-4	0.034
18	7774148	T	G	18	7774150	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon2:c.T75G:p.G25G;PTPRM:NM_001105244:exon2:c.T75G:p.G25G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.T75G:p.G25G;ENSG00000173482:ENST00000580170:exon2:c.T75G:p.G25G;ENSG00000173482:ENST00000400060:exon2:c.T75G:p.G25G;	2.26151924060605E-4	0.018
18	7774267	C	A	18	7774269	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon2:c.C194A:p.S65X;PTPRM:NM_001105244:exon2:c.C194A:p.S65X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon2:c.C194A:p.S65X;ENSG00000173482:ENST00000580170:exon2:c.C194A:p.S65X;ENSG00000173482:ENST00000400060:exon2:c.C194A:p.S65X;ENSG00000173482:ENST00000400053:exon2:c.C8A:p.S3X;	0.013644103182432	0.404
18	7774267	C	G	18	7774269	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon2:c.C194G:p.S65X;PTPRM:NM_001105244:exon2:c.C194G:p.S65X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon2:c.C194G:p.S65X;ENSG00000173482:ENST00000580170:exon2:c.C194G:p.S65X;ENSG00000173482:ENST00000400060:exon2:c.C194G:p.S65X;ENSG00000173482:ENST00000400053:exon2:c.C8G:p.S3X;	0.203205455792786	0.554
18	7774267	C	T	18	7774269	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon2:c.C194T:p.S65L;PTPRM:NM_001105244:exon2:c.C194T:p.S65L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.C194T:p.S65L;ENSG00000173482:ENST00000580170:exon2:c.C194T:p.S65L;ENSG00000173482:ENST00000400060:exon2:c.C194T:p.S65L;ENSG00000173482:ENST00000400053:exon2:c.C8T:p.S3L;	0.989886103733645	0.874
18	7774268	A	C	18	7774270	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon2:c.A195C:p.S65S;PTPRM:NM_001105244:exon2:c.A195C:p.S65S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.A195C:p.S65S;ENSG00000173482:ENST00000580170:exon2:c.A195C:p.S65S;ENSG00000173482:ENST00000400060:exon2:c.A195C:p.S65S;ENSG00000173482:ENST00000400053:exon2:c.A9C:p.S3S;	0.999984348967271	1.0
18	7774268	A	G	18	7774270	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon2:c.A195G:p.S65S;PTPRM:NM_001105244:exon2:c.A195G:p.S65S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.A195G:p.S65S;ENSG00000173482:ENST00000580170:exon2:c.A195G:p.S65S;ENSG00000173482:ENST00000400060:exon2:c.A195G:p.S65S;ENSG00000173482:ENST00000400053:exon2:c.A9G:p.S3S;	0.999980619482707	0.998
18	7774268	A	T	18	7774270	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon2:c.A195T:p.S65S;PTPRM:NM_001105244:exon2:c.A195T:p.S65S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.A195T:p.S65S;ENSG00000173482:ENST00000580170:exon2:c.A195T:p.S65S;ENSG00000173482:ENST00000400060:exon2:c.A195T:p.S65S;ENSG00000173482:ENST00000400053:exon2:c.A9T:p.S3S;	0.999979199657995	0.99
18	7774269	G	A	18	7774271	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon2:c.G196A:p.G66S;PTPRM:NM_001105244:exon2:c.G196A:p.G66S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.G196A:p.G66S;ENSG00000173482:ENST00000580170:exon2:c.G196A:p.G66S;ENSG00000173482:ENST00000400060:exon2:c.G196A:p.G66S;ENSG00000173482:ENST00000400053:exon2:c.G10A:p.G4S;	0.999997717352156	0.998
18	7774269	G	C	18	7774271	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon2:c.G196C:p.G66R;PTPRM:NM_001105244:exon2:c.G196C:p.G66R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.G196C:p.G66R;ENSG00000173482:ENST00000580170:exon2:c.G196C:p.G66R;ENSG00000173482:ENST00000400060:exon2:c.G196C:p.G66R;ENSG00000173482:ENST00000400053:exon2:c.G10C:p.G4R;	0.999998047848002	0.998
18	7774269	G	T	18	7774271	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon2:c.G196T:p.G66C;PTPRM:NM_001105244:exon2:c.G196T:p.G66C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon2:c.G196T:p.G66C;ENSG00000173482:ENST00000580170:exon2:c.G196T:p.G66C;ENSG00000173482:ENST00000400060:exon2:c.G196T:p.G66C;ENSG00000173482:ENST00000400053:exon2:c.G10T:p.G4C;	0.999993428462518	0.998
18	7774270	G	A	18	7774272	y	y	splicing	PTPRM(NM_002845:exon2:c.196+1G>A;NM_001105244:exon2:c.196+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.196+1G>A;ENST00000580170:exon2:c.196+1G>A;ENST00000400060:exon2:c.196+1G>A;ENST00000400053:exon2:c.10+1G>A)	.	.	0.999989125585301	0.944
18	7774270	G	C	18	7774272	y	y	splicing	PTPRM(NM_002845:exon2:c.196+1G>C;NM_001105244:exon2:c.196+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.196+1G>C;ENST00000580170:exon2:c.196+1G>C;ENST00000400060:exon2:c.196+1G>C;ENST00000400053:exon2:c.10+1G>C)	.	.	0.999989125585301	0.944
18	7774270	G	T	18	7774272	y	y	splicing	PTPRM(NM_002845:exon2:c.196+1G>T;NM_001105244:exon2:c.196+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.196+1G>T;ENST00000580170:exon2:c.196+1G>T;ENST00000400060:exon2:c.196+1G>T;ENST00000400053:exon2:c.10+1G>T)	.	.	0.999989125585301	0.944
18	7774271	T	A	18	7774273	y	y	splicing	PTPRM(NM_002845:exon2:c.196+2T>A;NM_001105244:exon2:c.196+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.196+2T>A;ENST00000580170:exon2:c.196+2T>A;ENST00000400060:exon2:c.196+2T>A;ENST00000400053:exon2:c.10+2T>A)	.	.	0.999984890425641	0.93
18	7774271	T	C	18	7774273	y	y	splicing	PTPRM(NM_002845:exon2:c.196+2T>C;NM_001105244:exon2:c.196+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.196+2T>C;ENST00000580170:exon2:c.196+2T>C;ENST00000400060:exon2:c.196+2T>C;ENST00000400053:exon2:c.10+2T>C)	.	.	0.999901344673318	0.912
18	7774271	T	G	18	7774273	y	y	splicing	PTPRM(NM_002845:exon2:c.196+2T>G;NM_001105244:exon2:c.196+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon2:c.196+2T>G;ENST00000580170:exon2:c.196+2T>G;ENST00000400060:exon2:c.196+2T>G;ENST00000400053:exon2:c.10+2T>G)	.	.	0.999984890425641	0.93
18	7774272	T	A	18	7774274	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.57038921368963E-4	0.042
18	7774272	T	C	18	7774274	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.97679320285673E-4	0.082
18	7774272	T	G	18	7774274	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.58163363968138E-4	0.026
18	7774273	T	A	18	7774275	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0169932013391513	0.194
18	7774273	T	C	18	7774275	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.520592970435754	0.548
18	7774273	T	G	18	7774275	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.234629799052338	0.27
18	7774274	G	A	18	7774276	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999964322682952	0.996
18	7774274	G	C	18	7774276	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999977701627252	0.984
18	7774274	G	T	18	7774276	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999987880316622	0.992
18	7774275	C	A	18	7774277	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.37939317035909E-5	0.014
18	7774275	C	G	18	7774277	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.36654596185723E-5	0.19
18	7774275	C	T	18	7774277	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.39393112560447E-4	0.002
18	7774276	T	A	18	7774278	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.22756706790848E-4	0.008
18	7774276	T	C	18	7774278	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.52459454450408E-4	0.0
18	7774276	T	G	18	7774278	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.48819033668475E-4	0.0
18	7774277	T	A	18	7774279	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.17738470357869E-4	0.02
18	7774277	T	C	18	7774279	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.16797299872693E-4	0.01
18	7774277	T	G	18	7774279	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.01848527328851E-5	0.012
18	7888092	T	A	18	7888094	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0188415376772768	0.24
18	7888092	T	C	18	7888094	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00672533664974726	0.156
18	7888092	T	G	18	7888094	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0254960213841698	0.216
18	7888093	T	A	18	7888095	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999882569536955	0.932
18	7888093	T	C	18	7888095	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.62972672420369E-4	0.1
18	7888093	T	G	18	7888095	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00234803790251688	0.164
18	7888094	G	A	18	7888096	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.00173789543335E-4	0.166
18	7888094	G	C	18	7888096	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.22305978798973E-5	0.136
18	7888094	G	T	18	7888096	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.43894539879116E-5	0.152
18	7888095	T	A	18	7888097	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.37720530474571	0.526
18	7888095	T	C	18	7888097	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.168154258579623	0.546
18	7888095	T	G	18	7888097	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.294794242809132	0.542
18	7888096	T	A	18	7888098	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00360070645576715	0.128
18	7888096	T	C	18	7888098	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.49616714807832E-5	0.004
18	7888096	T	G	18	7888098	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00418846263391445	0.134
18	7888097	T	A	18	7888099	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0324092317472575	0.204
18	7888097	T	C	18	7888099	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.32075706033699E-4	0.0
18	7888097	T	G	18	7888099	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0102016619104048	0.078
18	7888098	T	A	18	7888100	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0254748707874597	0.192
18	7888098	T	C	18	7888100	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.09119290230516E-4	0.02
18	7888098	T	G	18	7888100	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0141890197853188	0.226
18	7888099	T	A	18	7888101	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99967306558179	0.82
18	7888099	T	C	18	7888101	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.08622062031065E-4	0.014
18	7888099	T	G	18	7888101	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00261191841524585	0.13
18	7888100	G	A	18	7888102	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.79075174148833E-5	0.01
18	7888100	G	C	18	7888102	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.35755102811325E-5	0.024
18	7888100	G	T	18	7888102	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.0495169132365E-5	0.012
18	7888101	C	A	18	7888103	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.548814637061108	0.52
18	7888101	C	G	18	7888103	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999818643578789	0.906
18	7888101	C	T	18	7888103	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0145409282669684	0.102
18	7888102	A	C	18	7888104	y	y	splicing	PTPRM(NM_002845:exon3:c.197-2A>C;NM_001105244:exon3:c.197-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.197-2A>C;ENST00000580170:exon3:c.197-2A>C;ENST00000400060:exon3:c.197-2A>C;ENST00000400053:exon3:c.11-2A>C)	.	.	0.999988247793601	0.93
18	7888102	A	G	18	7888104	y	y	splicing	PTPRM(NM_002845:exon3:c.197-2A>G;NM_001105244:exon3:c.197-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.197-2A>G;ENST00000580170:exon3:c.197-2A>G;ENST00000400060:exon3:c.197-2A>G;ENST00000400053:exon3:c.11-2A>G)	.	.	0.999988247793601	0.93
18	7888102	A	T	18	7888104	y	y	splicing	PTPRM(NM_002845:exon3:c.197-2A>T;NM_001105244:exon3:c.197-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.197-2A>T;ENST00000580170:exon3:c.197-2A>T;ENST00000400060:exon3:c.197-2A>T;ENST00000400053:exon3:c.11-2A>T)	.	.	0.999988247793601	0.93
18	7888103	G	A	18	7888105	y	y	splicing	PTPRM(NM_002845:exon3:c.197-1G>A;NM_001105244:exon3:c.197-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.197-1G>A;ENST00000580170:exon3:c.197-1G>A;ENST00000400060:exon3:c.197-1G>A;ENST00000400053:exon3:c.11-1G>A)	.	.	0.999990361384395	0.938
18	7888103	G	C	18	7888105	y	y	splicing	PTPRM(NM_002845:exon3:c.197-1G>C;NM_001105244:exon3:c.197-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.197-1G>C;ENST00000580170:exon3:c.197-1G>C;ENST00000400060:exon3:c.197-1G>C;ENST00000400053:exon3:c.11-1G>C)	.	.	0.999990361384395	0.938
18	7888103	G	T	18	7888105	y	y	splicing	PTPRM(NM_002845:exon3:c.197-1G>T;NM_001105244:exon3:c.197-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.197-1G>T;ENST00000580170:exon3:c.197-1G>T;ENST00000400060:exon3:c.197-1G>T;ENST00000400053:exon3:c.11-1G>T)	.	.	0.999990361384395	0.938
18	7888104	G	A	18	7888106	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.G197A:p.G66D;PTPRM:NM_001105244:exon3:c.G197A:p.G66D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.G197A:p.G66D;ENSG00000173482:ENST00000580170:exon3:c.G197A:p.G66D;ENSG00000173482:ENST00000400060:exon3:c.G197A:p.G66D;ENSG00000173482:ENST00000400053:exon3:c.G11A:p.G4D;	0.998357457757502	0.748
18	7888104	G	C	18	7888106	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.G197C:p.G66A;PTPRM:NM_001105244:exon3:c.G197C:p.G66A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.G197C:p.G66A;ENSG00000173482:ENST00000580170:exon3:c.G197C:p.G66A;ENSG00000173482:ENST00000400060:exon3:c.G197C:p.G66A;ENSG00000173482:ENST00000400053:exon3:c.G11C:p.G4A;	0.999449455794838	0.942
18	7888104	G	T	18	7888106	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.G197T:p.G66V;PTPRM:NM_001105244:exon3:c.G197T:p.G66V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.G197T:p.G66V;ENSG00000173482:ENST00000580170:exon3:c.G197T:p.G66V;ENSG00000173482:ENST00000400060:exon3:c.G197T:p.G66V;ENSG00000173482:ENST00000400053:exon3:c.G11T:p.G4V;	0.999873156773176	0.99
18	7888105	T	A	18	7888107	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon3:c.T198A:p.G66G;PTPRM:NM_001105244:exon3:c.T198A:p.G66G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.T198A:p.G66G;ENSG00000173482:ENST00000580170:exon3:c.T198A:p.G66G;ENSG00000173482:ENST00000400060:exon3:c.T198A:p.G66G;ENSG00000173482:ENST00000400053:exon3:c.T12A:p.G4G;	9.56372463741345E-4	0.106
18	7888105	T	C	18	7888107	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon3:c.T198C:p.G66G;PTPRM:NM_001105244:exon3:c.T198C:p.G66G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.T198C:p.G66G;ENSG00000173482:ENST00000580170:exon3:c.T198C:p.G66G;ENSG00000173482:ENST00000400060:exon3:c.T198C:p.G66G;ENSG00000173482:ENST00000400053:exon3:c.T12C:p.G4G;	5.89454379148353E-4	0.114
18	7888105	T	G	18	7888107	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon3:c.T198G:p.G66G;PTPRM:NM_001105244:exon3:c.T198G:p.G66G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.T198G:p.G66G;ENSG00000173482:ENST00000580170:exon3:c.T198G:p.G66G;ENSG00000173482:ENST00000400060:exon3:c.T198G:p.G66G;ENSG00000173482:ENST00000400053:exon3:c.T12G:p.G4G;	6.05706388494313E-4	0.098
18	7888373	C	A	18	7888375	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.C466A:p.Q156K;PTPRM:NM_001105244:exon3:c.C466A:p.Q156K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.C466A:p.Q156K;ENSG00000173482:ENST00000580170:exon3:c.C466A:p.Q156K;ENSG00000173482:ENST00000400060:exon3:c.C466A:p.Q156K;ENSG00000173482:ENST00000400053:exon3:c.C280A:p.Q94K;	0.973327418457201	0.838
18	7888373	C	G	18	7888375	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.C466G:p.Q156E;PTPRM:NM_001105244:exon3:c.C466G:p.Q156E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.C466G:p.Q156E;ENSG00000173482:ENST00000580170:exon3:c.C466G:p.Q156E;ENSG00000173482:ENST00000400060:exon3:c.C466G:p.Q156E;ENSG00000173482:ENST00000400053:exon3:c.C280G:p.Q94E;	0.946841136119512	0.672
18	7888373	C	T	18	7888375	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon3:c.C466T:p.Q156X;PTPRM:NM_001105244:exon3:c.C466T:p.Q156X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon3:c.C466T:p.Q156X;ENSG00000173482:ENST00000580170:exon3:c.C466T:p.Q156X;ENSG00000173482:ENST00000400060:exon3:c.C466T:p.Q156X;ENSG00000173482:ENST00000400053:exon3:c.C280T:p.Q94X;	0.998205376347645	0.846
18	7888374	A	C	18	7888376	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.A467C:p.Q156P;PTPRM:NM_001105244:exon3:c.A467C:p.Q156P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.A467C:p.Q156P;ENSG00000173482:ENST00000580170:exon3:c.A467C:p.Q156P;ENSG00000173482:ENST00000400060:exon3:c.A467C:p.Q156P;ENSG00000173482:ENST00000400053:exon3:c.A281C:p.Q94P;	0.99102223015867	0.826
18	7888374	A	G	18	7888376	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.A467G:p.Q156R;PTPRM:NM_001105244:exon3:c.A467G:p.Q156R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.A467G:p.Q156R;ENSG00000173482:ENST00000580170:exon3:c.A467G:p.Q156R;ENSG00000173482:ENST00000400060:exon3:c.A467G:p.Q156R;ENSG00000173482:ENST00000400053:exon3:c.A281G:p.Q94R;	0.993825749036181	0.866
18	7888374	A	T	18	7888376	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.A467T:p.Q156L;PTPRM:NM_001105244:exon3:c.A467T:p.Q156L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.A467T:p.Q156L;ENSG00000173482:ENST00000580170:exon3:c.A467T:p.Q156L;ENSG00000173482:ENST00000400060:exon3:c.A467T:p.Q156L;ENSG00000173482:ENST00000400053:exon3:c.A281T:p.Q94L;	0.999029317019549	0.95
18	7888375	G	A	18	7888377	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon3:c.G468A:p.Q156Q;PTPRM:NM_001105244:exon3:c.G468A:p.Q156Q;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.G468A:p.Q156Q;ENSG00000173482:ENST00000580170:exon3:c.G468A:p.Q156Q;ENSG00000173482:ENST00000400060:exon3:c.G468A:p.Q156Q;ENSG00000173482:ENST00000400053:exon3:c.G282A:p.Q94Q;	0.997812241935195	0.964
18	7888375	G	C	18	7888377	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.G468C:p.Q156H;PTPRM:NM_001105244:exon3:c.G468C:p.Q156H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.G468C:p.Q156H;ENSG00000173482:ENST00000580170:exon3:c.G468C:p.Q156H;ENSG00000173482:ENST00000400060:exon3:c.G468C:p.Q156H;ENSG00000173482:ENST00000400053:exon3:c.G282C:p.Q94H;	0.999946251888432	0.986
18	7888375	G	T	18	7888377	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon3:c.G468T:p.Q156H;PTPRM:NM_001105244:exon3:c.G468T:p.Q156H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon3:c.G468T:p.Q156H;ENSG00000173482:ENST00000580170:exon3:c.G468T:p.Q156H;ENSG00000173482:ENST00000400060:exon3:c.G468T:p.Q156H;ENSG00000173482:ENST00000400053:exon3:c.G282T:p.Q94H;	0.999961310521132	0.988
18	7888376	G	A	18	7888378	y	y	splicing	PTPRM(NM_002845:exon3:c.468+1G>A;NM_001105244:exon3:c.468+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.468+1G>A;ENST00000580170:exon3:c.468+1G>A;ENST00000400060:exon3:c.468+1G>A;ENST00000400053:exon3:c.282+1G>A)	.	.	0.999990361384395	0.938
18	7888376	G	C	18	7888378	y	y	splicing	PTPRM(NM_002845:exon3:c.468+1G>C;NM_001105244:exon3:c.468+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.468+1G>C;ENST00000580170:exon3:c.468+1G>C;ENST00000400060:exon3:c.468+1G>C;ENST00000400053:exon3:c.282+1G>C)	.	.	0.999990361384395	0.938
18	7888376	G	T	18	7888378	y	y	splicing	PTPRM(NM_002845:exon3:c.468+1G>T;NM_001105244:exon3:c.468+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.468+1G>T;ENST00000580170:exon3:c.468+1G>T;ENST00000400060:exon3:c.468+1G>T;ENST00000400053:exon3:c.282+1G>T)	.	.	0.999990361384395	0.938
18	7888377	T	A	18	7888379	y	y	splicing	PTPRM(NM_002845:exon3:c.468+2T>A;NM_001105244:exon3:c.468+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.468+2T>A;ENST00000580170:exon3:c.468+2T>A;ENST00000400060:exon3:c.468+2T>A;ENST00000400053:exon3:c.282+2T>A)	.	.	0.999988247793601	0.93
18	7888377	T	C	18	7888379	y	y	splicing	PTPRM(NM_002845:exon3:c.468+2T>C;NM_001105244:exon3:c.468+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.468+2T>C;ENST00000580170:exon3:c.468+2T>C;ENST00000400060:exon3:c.468+2T>C;ENST00000400053:exon3:c.282+2T>C)	.	.	0.996046924575706	0.718
18	7888377	T	G	18	7888379	y	y	splicing	PTPRM(NM_002845:exon3:c.468+2T>G;NM_001105244:exon3:c.468+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon3:c.468+2T>G;ENST00000580170:exon3:c.468+2T>G;ENST00000400060:exon3:c.468+2T>G;ENST00000400053:exon3:c.282+2T>G)	.	.	0.999988247793601	0.93
18	7888378	A	C	18	7888380	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.982320794485512	0.8
18	7888378	A	G	18	7888380	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.563106895816805	0.722
18	7888378	A	T	18	7888380	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.970594330525846	0.732
18	7888379	T	A	18	7888381	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.2411926106898E-5	0.056
18	7888379	T	C	18	7888381	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.82942997427231E-4	0.038
18	7888379	T	G	18	7888381	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.0041979059321E-5	0.01
18	7888380	G	A	18	7888382	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997302247904283	0.742
18	7888380	G	C	18	7888382	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.990890429077682	0.736
18	7888380	G	T	18	7888382	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997837109591202	0.798
18	7888381	T	A	18	7888383	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00228728525128119	0.056
18	7888381	T	C	18	7888383	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00182000363294351	0.078
18	7888381	T	G	18	7888383	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.13384731587686E-4	0.048
18	7888382	G	A	18	7888384	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.98527648914701E-5	0.008
18	7888382	G	C	18	7888384	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.55591704267905E-5	0.0
18	7888382	G	T	18	7888384	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.10710114931588E-4	0.0
18	7888383	C	A	18	7888385	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.84451672713599E-4	0.002
18	7888383	C	G	18	7888385	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.36283132106198E-4	0.0
18	7888383	C	T	18	7888385	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.90860980918621E-5	0.002
18	7906491	T	A	18	7906493	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996856354853528	0.816
18	7906491	T	C	18	7906493	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0406366154179999	0.262
18	7906491	T	G	18	7906493	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.988992500198801	0.834
18	7906492	T	A	18	7906494	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.900938743251032	0.584
18	7906492	T	C	18	7906494	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00579747859455368	0.116
18	7906492	T	G	18	7906494	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.752476186708412	0.514
18	7906493	A	C	18	7906495	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.89207537989018E-4	0.01
18	7906493	A	G	18	7906495	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.34420724653157E-4	0.01
18	7906493	A	T	18	7906495	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.86125502403537E-4	0.004
18	7906494	A	C	18	7906496	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0120005830264898	0.134
18	7906494	A	G	18	7906496	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998632302176197	0.904
18	7906494	A	T	18	7906496	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0065480035928049	0.108
18	7906495	T	A	18	7906497	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0194526963995287	0.092
18	7906495	T	C	18	7906497	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.34998951389554E-5	0.004
18	7906495	T	G	18	7906497	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999927922852126	0.99
18	7906496	T	A	18	7906498	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.160620457559034	0.278
18	7906496	T	C	18	7906498	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.96312303433741E-4	0.014
18	7906496	T	G	18	7906498	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.146362701459662	0.21
18	7906497	T	A	18	7906499	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.892875921821853	0.726
18	7906497	T	C	18	7906499	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00279420487670375	0.096
18	7906497	T	G	18	7906499	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.939764959304787	0.658
18	7906498	T	A	18	7906500	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.806402397652784	0.6
18	7906498	T	C	18	7906500	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.222654189265996	0.212
18	7906498	T	G	18	7906500	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.828121290808908	0.59
18	7906499	C	A	18	7906501	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.1326068619008E-5	0.0
18	7906499	C	G	18	7906501	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.97345119083478E-5	0.0
18	7906499	C	T	18	7906501	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.3959827816729E-5	0.0
18	7906500	C	A	18	7906502	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.178436074150593	0.358
18	7906500	C	G	18	7906502	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.849362995205774	0.696
18	7906500	C	T	18	7906502	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.25545759103931E-4	0.016
18	7906501	A	C	18	7906503	y	y	splicing	PTPRM(NM_002845:exon4:c.469-2A>C;NM_001105244:exon4:c.469-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.469-2A>C;ENST00000580170:exon4:c.469-2A>C;ENST00000400060:exon4:c.469-2A>C;ENST00000400053:exon4:c.283-2A>C)	.	.	0.999988247793601	0.912
18	7906501	A	G	18	7906503	y	y	splicing	PTPRM(NM_002845:exon4:c.469-2A>G;NM_001105244:exon4:c.469-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.469-2A>G;ENST00000580170:exon4:c.469-2A>G;ENST00000400060:exon4:c.469-2A>G;ENST00000400053:exon4:c.283-2A>G)	.	.	0.999988247793601	0.912
18	7906501	A	T	18	7906503	y	y	splicing	PTPRM(NM_002845:exon4:c.469-2A>T;NM_001105244:exon4:c.469-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.469-2A>T;ENST00000580170:exon4:c.469-2A>T;ENST00000400060:exon4:c.469-2A>T;ENST00000400053:exon4:c.283-2A>T)	.	.	0.999988247793601	0.926
18	7906502	G	A	18	7906504	y	y	splicing	PTPRM(NM_002845:exon4:c.469-1G>A;NM_001105244:exon4:c.469-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.469-1G>A;ENST00000580170:exon4:c.469-1G>A;ENST00000400060:exon4:c.469-1G>A;ENST00000400053:exon4:c.283-1G>A)	.	.	0.999986675681007	0.93
18	7906502	G	C	18	7906504	y	y	splicing	PTPRM(NM_002845:exon4:c.469-1G>C;NM_001105244:exon4:c.469-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.469-1G>C;ENST00000580170:exon4:c.469-1G>C;ENST00000400060:exon4:c.469-1G>C;ENST00000400053:exon4:c.283-1G>C)	.	.	0.999986675681007	0.93
18	7906502	G	T	18	7906504	y	y	splicing	PTPRM(NM_002845:exon4:c.469-1G>T;NM_001105244:exon4:c.469-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.469-1G>T;ENST00000580170:exon4:c.469-1G>T;ENST00000400060:exon4:c.469-1G>T;ENST00000400053:exon4:c.283-1G>T)	.	.	0.999986675681007	0.93
18	7906503	G	A	18	7906505	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.G469A:p.V157M;PTPRM:NM_001105244:exon4:c.G469A:p.V157M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.G469A:p.V157M;ENSG00000173482:ENST00000580170:exon4:c.G469A:p.V157M;ENSG00000173482:ENST00000400060:exon4:c.G469A:p.V157M;ENSG00000173482:ENST00000400053:exon4:c.G283A:p.V95M;	0.998197707572201	0.864
18	7906503	G	C	18	7906505	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.G469C:p.V157L;PTPRM:NM_001105244:exon4:c.G469C:p.V157L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.G469C:p.V157L;ENSG00000173482:ENST00000580170:exon4:c.G469C:p.V157L;ENSG00000173482:ENST00000400060:exon4:c.G469C:p.V157L;ENSG00000173482:ENST00000400053:exon4:c.G283C:p.V95L;	0.989682583902095	0.88
18	7906503	G	T	18	7906505	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.G469T:p.V157L;PTPRM:NM_001105244:exon4:c.G469T:p.V157L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.G469T:p.V157L;ENSG00000173482:ENST00000580170:exon4:c.G469T:p.V157L;ENSG00000173482:ENST00000400060:exon4:c.G469T:p.V157L;ENSG00000173482:ENST00000400053:exon4:c.G283T:p.V95L;	0.998160336742966	0.926
18	7906504	T	A	18	7906506	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.T470A:p.V157E;PTPRM:NM_001105244:exon4:c.T470A:p.V157E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.T470A:p.V157E;ENSG00000173482:ENST00000580170:exon4:c.T470A:p.V157E;ENSG00000173482:ENST00000400060:exon4:c.T470A:p.V157E;ENSG00000173482:ENST00000400053:exon4:c.T284A:p.V95E;	0.45711553658371	0.32
18	7906504	T	C	18	7906506	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.T470C:p.V157A;PTPRM:NM_001105244:exon4:c.T470C:p.V157A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.T470C:p.V157A;ENSG00000173482:ENST00000580170:exon4:c.T470C:p.V157A;ENSG00000173482:ENST00000400060:exon4:c.T470C:p.V157A;ENSG00000173482:ENST00000400053:exon4:c.T284C:p.V95A;	0.193829233495685	0.302
18	7906504	T	G	18	7906506	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.T470G:p.V157G;PTPRM:NM_001105244:exon4:c.T470G:p.V157G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.T470G:p.V157G;ENSG00000173482:ENST00000580170:exon4:c.T470G:p.V157G;ENSG00000173482:ENST00000400060:exon4:c.T470G:p.V157G;ENSG00000173482:ENST00000400053:exon4:c.T284G:p.V95G;	0.295180966515727	0.312
18	7906579	G	A	18	7906581	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.G545A:p.C182Y;PTPRM:NM_001105244:exon4:c.G545A:p.C182Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.G545A:p.C182Y;ENSG00000173482:ENST00000580170:exon4:c.G545A:p.C182Y;ENSG00000173482:ENST00000400060:exon4:c.G545A:p.C182Y;ENSG00000173482:ENST00000400053:exon4:c.G359A:p.C120Y;	0.937182330866861	0.816
18	7906579	G	C	18	7906581	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.G545C:p.C182S;PTPRM:NM_001105244:exon4:c.G545C:p.C182S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.G545C:p.C182S;ENSG00000173482:ENST00000580170:exon4:c.G545C:p.C182S;ENSG00000173482:ENST00000400060:exon4:c.G545C:p.C182S;ENSG00000173482:ENST00000400053:exon4:c.G359C:p.C120S;	0.902071483897636	0.756
18	7906579	G	T	18	7906581	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.G545T:p.C182F;PTPRM:NM_001105244:exon4:c.G545T:p.C182F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.G545T:p.C182F;ENSG00000173482:ENST00000580170:exon4:c.G545T:p.C182F;ENSG00000173482:ENST00000400060:exon4:c.G545T:p.C182F;ENSG00000173482:ENST00000400053:exon4:c.G359T:p.C120F;	0.986431851403743	0.894
18	7906580	T	A	18	7906582	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon4:c.T546A:p.C182X;PTPRM:NM_001105244:exon4:c.T546A:p.C182X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon4:c.T546A:p.C182X;ENSG00000173482:ENST00000580170:exon4:c.T546A:p.C182X;ENSG00000173482:ENST00000400060:exon4:c.T546A:p.C182X;ENSG00000173482:ENST00000400053:exon4:c.T360A:p.C120X;	0.00114744801664842	0.474
18	7906580	T	C	18	7906582	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon4:c.T546C:p.C182C;PTPRM:NM_001105244:exon4:c.T546C:p.C182C;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.T546C:p.C182C;ENSG00000173482:ENST00000580170:exon4:c.T546C:p.C182C;ENSG00000173482:ENST00000400060:exon4:c.T546C:p.C182C;ENSG00000173482:ENST00000400053:exon4:c.T360C:p.C120C;	1.96759643261651E-4	0.032
18	7906580	T	G	18	7906582	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.T546G:p.C182W;PTPRM:NM_001105244:exon4:c.T546G:p.C182W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.T546G:p.C182W;ENSG00000173482:ENST00000580170:exon4:c.T546G:p.C182W;ENSG00000173482:ENST00000400060:exon4:c.T546G:p.C182W;ENSG00000173482:ENST00000400053:exon4:c.T360G:p.C120W;	7.63963510149043E-4	0.226
18	7906581	A	C	18	7906583	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.A547C:p.T183P;PTPRM:NM_001105244:exon4:c.A547C:p.T183P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.A547C:p.T183P;ENSG00000173482:ENST00000580170:exon4:c.A547C:p.T183P;ENSG00000173482:ENST00000400060:exon4:c.A547C:p.T183P;ENSG00000173482:ENST00000400053:exon4:c.A361C:p.T121P;	0.0517184574335471	0.434
18	7906581	A	G	18	7906583	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.A547G:p.T183A;PTPRM:NM_001105244:exon4:c.A547G:p.T183A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.A547G:p.T183A;ENSG00000173482:ENST00000580170:exon4:c.A547G:p.T183A;ENSG00000173482:ENST00000400060:exon4:c.A547G:p.T183A;ENSG00000173482:ENST00000400053:exon4:c.A361G:p.T121A;	4.26534603292658E-4	0.03
18	7906581	A	T	18	7906583	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon4:c.A547T:p.T183S;PTPRM:NM_001105244:exon4:c.A547T:p.T183S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon4:c.A547T:p.T183S;ENSG00000173482:ENST00000580170:exon4:c.A547T:p.T183S;ENSG00000173482:ENST00000400060:exon4:c.A547T:p.T183S;ENSG00000173482:ENST00000400053:exon4:c.A361T:p.T121S;	0.00183035450360328	0.12
18	7906582	G	A	18	7906584	y	y	splicing	PTPRM(NM_002845:exon4:c.547+1G>A;NM_001105244:exon4:c.547+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.547+1G>A;ENST00000580170:exon4:c.547+1G>A;ENST00000400060:exon4:c.547+1G>A;ENST00000400053:exon4:c.361+1G>A)	.	.	0.999985532734767	0.938
18	7906582	G	C	18	7906584	y	y	splicing	PTPRM(NM_002845:exon4:c.547+1G>C;NM_001105244:exon4:c.547+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.547+1G>C;ENST00000580170:exon4:c.547+1G>C;ENST00000400060:exon4:c.547+1G>C;ENST00000400053:exon4:c.361+1G>C)	.	.	0.999985532734767	0.938
18	7906582	G	T	18	7906584	y	y	splicing	PTPRM(NM_002845:exon4:c.547+1G>T;NM_001105244:exon4:c.547+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.547+1G>T;ENST00000580170:exon4:c.547+1G>T;ENST00000400060:exon4:c.547+1G>T;ENST00000400053:exon4:c.361+1G>T)	.	.	0.999985532734767	0.938
18	7906583	T	A	18	7906585	y	y	splicing	PTPRM(NM_002845:exon4:c.547+2T>A;NM_001105244:exon4:c.547+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.547+2T>A;ENST00000580170:exon4:c.547+2T>A;ENST00000400060:exon4:c.547+2T>A;ENST00000400053:exon4:c.361+2T>A)	.	.	0.999988247793601	0.93
18	7906583	T	C	18	7906585	y	y	splicing	PTPRM(NM_002845:exon4:c.547+2T>C;NM_001105244:exon4:c.547+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.547+2T>C;ENST00000580170:exon4:c.547+2T>C;ENST00000400060:exon4:c.547+2T>C;ENST00000400053:exon4:c.361+2T>C)	.	.	0.99340600729494	0.652
18	7906583	T	G	18	7906585	y	y	splicing	PTPRM(NM_002845:exon4:c.547+2T>G;NM_001105244:exon4:c.547+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon4:c.547+2T>G;ENST00000580170:exon4:c.547+2T>G;ENST00000400060:exon4:c.547+2T>G;ENST00000400053:exon4:c.361+2T>G)	.	.	0.999988247793601	0.93
18	7906584	A	C	18	7906586	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99967351107936	0.958
18	7906584	A	G	18	7906586	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.989036125540879	0.71
18	7906584	A	T	18	7906586	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99957405523524	0.966
18	7906585	A	C	18	7906587	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998967784764942	0.902
18	7906585	A	G	18	7906587	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999211024105605	0.93
18	7906585	A	T	18	7906587	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996523557421496	0.858
18	7906586	G	A	18	7906588	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999963856395248	1.0
18	7906586	G	C	18	7906588	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99996163660889	0.978
18	7906586	G	T	18	7906588	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999946525426805	0.978
18	7906587	T	A	18	7906589	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99851027849396	0.836
18	7906587	T	C	18	7906589	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998593043290433	0.974
18	7906587	T	G	18	7906589	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99774795682768	0.968
18	7906588	T	A	18	7906590	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.92302300766124E-5	0.0
18	7906588	T	C	18	7906590	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.61464922675008E-5	0.0
18	7906588	T	G	18	7906590	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.94092772707875E-5	0.0
18	7906589	G	A	18	7906591	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.5795485938116E-5	0.0
18	7906589	G	C	18	7906591	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.57863408333541E-4	0.0
18	7906589	G	T	18	7906591	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.36742828518914E-4	0.0
18	7926554	T	A	18	7926556	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.99323929759221E-4	0.09
18	7926554	T	C	18	7926556	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.98292991179637E-5	0.116
18	7926554	T	G	18	7926556	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.57409059687405E-4	0.098
18	7926555	T	A	18	7926557	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.231920530741012	0.48
18	7926555	T	C	18	7926557	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00654938602982629	0.19
18	7926555	T	G	18	7926557	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0157770291701672	0.336
18	7926556	C	A	18	7926558	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00115073349269763	0.082
18	7926556	C	G	18	7926558	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00335473095099391	0.114
18	7926556	C	T	18	7926558	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.294926946491E-5	0.0
18	7926557	T	A	18	7926559	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.62172711414945E-4	0.076
18	7926557	T	C	18	7926559	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.12515052092952E-4	0.018
18	7926557	T	G	18	7926559	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00101453172563032	0.088
18	7926558	T	A	18	7926560	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.81790267396614E-4	0.082
18	7926558	T	C	18	7926560	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.34538669664977E-5	0.006
18	7926558	T	G	18	7926560	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.95534899852146E-4	0.078
18	7926559	T	A	18	7926561	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.77555133644109E-4	0.074
18	7926559	T	C	18	7926561	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.39271886348937E-4	0.006
18	7926559	T	G	18	7926561	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.41496426289148E-4	0.026
18	7926560	A	C	18	7926562	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.84990655415943E-5	0.008
18	7926560	A	G	18	7926562	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.65415371271916E-5	0.0
18	7926560	A	T	18	7926562	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.16027995787006E-4	0.002
18	7926561	T	A	18	7926563	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998311681910022	0.882
18	7926561	T	C	18	7926563	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00226827421127772	0.092
18	7926561	T	G	18	7926563	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999908859004771	0.948
18	7926562	G	A	18	7926564	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00177984717962182	0.008
18	7926562	G	C	18	7926564	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00106497380157189	0.006
18	7926562	G	T	18	7926564	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00165598071372844	0.012
18	7926563	T	A	18	7926565	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00871238368654513	0.294
18	7926563	T	C	18	7926565	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.11711354200543E-4	0.008
18	7926563	T	G	18	7926565	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997209439098952	0.67
18	7926564	A	C	18	7926566	y	y	splicing	PTPRM(NM_002845:exon5:c.548-2A>C;NM_001105244:exon5:c.548-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.548-2A>C;ENST00000580170:exon5:c.548-2A>C;ENST00000400060:exon5:c.548-2A>C;ENST00000400053:exon5:c.362-2A>C)	.	.	0.999988247793601	0.93
18	7926564	A	G	18	7926566	y	y	splicing	PTPRM(NM_002845:exon5:c.548-2A>G;NM_001105244:exon5:c.548-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.548-2A>G;ENST00000580170:exon5:c.548-2A>G;ENST00000400060:exon5:c.548-2A>G;ENST00000400053:exon5:c.362-2A>G)	.	.	0.999988247793601	0.93
18	7926564	A	T	18	7926566	y	y	splicing	PTPRM(NM_002845:exon5:c.548-2A>T;NM_001105244:exon5:c.548-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.548-2A>T;ENST00000580170:exon5:c.548-2A>T;ENST00000400060:exon5:c.548-2A>T;ENST00000400053:exon5:c.362-2A>T)	.	.	0.999988247793601	0.932
18	7926565	G	A	18	7926567	y	y	splicing	PTPRM(NM_002845:exon5:c.548-1G>A;NM_001105244:exon5:c.548-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.548-1G>A;ENST00000580170:exon5:c.548-1G>A;ENST00000400060:exon5:c.548-1G>A;ENST00000400053:exon5:c.362-1G>A)	.	.	0.999993148181228	0.932
18	7926565	G	C	18	7926567	y	y	splicing	PTPRM(NM_002845:exon5:c.548-1G>C;NM_001105244:exon5:c.548-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.548-1G>C;ENST00000580170:exon5:c.548-1G>C;ENST00000400060:exon5:c.548-1G>C;ENST00000400053:exon5:c.362-1G>C)	.	.	0.999993148181228	0.932
18	7926565	G	T	18	7926567	y	y	splicing	PTPRM(NM_002845:exon5:c.548-1G>T;NM_001105244:exon5:c.548-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.548-1G>T;ENST00000580170:exon5:c.548-1G>T;ENST00000400060:exon5:c.548-1G>T;ENST00000400053:exon5:c.362-1G>T)	.	.	0.999993148181228	0.932
18	7926566	C	A	18	7926568	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.C548A:p.T183N;PTPRM:NM_001105244:exon5:c.C548A:p.T183N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.C548A:p.T183N;ENSG00000173482:ENST00000580170:exon5:c.C548A:p.T183N;ENSG00000173482:ENST00000400060:exon5:c.C548A:p.T183N;ENSG00000173482:ENST00000400053:exon5:c.C362A:p.T121N;	0.00469257169129901	0.044
18	7926566	C	G	18	7926568	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.C548G:p.T183S;PTPRM:NM_001105244:exon5:c.C548G:p.T183S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.C548G:p.T183S;ENSG00000173482:ENST00000580170:exon5:c.C548G:p.T183S;ENSG00000173482:ENST00000400060:exon5:c.C548G:p.T183S;ENSG00000173482:ENST00000400053:exon5:c.C362G:p.T121S;	0.00150233356518819	0.154
18	7926566	C	T	18	7926568	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.C548T:p.T183I;PTPRM:NM_001105244:exon5:c.C548T:p.T183I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.C548T:p.T183I;ENSG00000173482:ENST00000580170:exon5:c.C548T:p.T183I;ENSG00000173482:ENST00000400060:exon5:c.C548T:p.T183I;ENSG00000173482:ENST00000400053:exon5:c.C362T:p.T121I;	0.0468614276005633	0.322
18	7926567	C	A	18	7926569	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon5:c.C549A:p.T183T;PTPRM:NM_001105244:exon5:c.C549A:p.T183T;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.C549A:p.T183T;ENSG00000173482:ENST00000580170:exon5:c.C549A:p.T183T;ENSG00000173482:ENST00000400060:exon5:c.C549A:p.T183T;ENSG00000173482:ENST00000400053:exon5:c.C363A:p.T121T;	5.74804291730206E-5	0.0
18	7926567	C	G	18	7926569	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon5:c.C549G:p.T183T;PTPRM:NM_001105244:exon5:c.C549G:p.T183T;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.C549G:p.T183T;ENSG00000173482:ENST00000580170:exon5:c.C549G:p.T183T;ENSG00000173482:ENST00000400060:exon5:c.C549G:p.T183T;ENSG00000173482:ENST00000400053:exon5:c.C363G:p.T121T;	6.05886335238128E-5	0.0
18	7926567	C	T	18	7926569	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon5:c.C549T:p.T183T;PTPRM:NM_001105244:exon5:c.C549T:p.T183T;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.C549T:p.T183T;ENSG00000173482:ENST00000580170:exon5:c.C549T:p.T183T;ENSG00000173482:ENST00000400060:exon5:c.C549T:p.T183T;ENSG00000173482:ENST00000400053:exon5:c.C363T:p.T121T;	6.73078696736479E-5	0.004
18	7926679	C	A	18	7926681	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.C661A:p.Q221K;PTPRM:NM_001105244:exon5:c.C661A:p.Q221K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.C661A:p.Q221K;ENSG00000173482:ENST00000580170:exon5:c.C661A:p.Q221K;ENSG00000173482:ENST00000400060:exon5:c.C661A:p.Q221K;ENSG00000173482:ENST00000400053:exon5:c.C475A:p.Q159K;	0.945696683644384	0.756
18	7926679	C	G	18	7926681	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.C661G:p.Q221E;PTPRM:NM_001105244:exon5:c.C661G:p.Q221E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.C661G:p.Q221E;ENSG00000173482:ENST00000580170:exon5:c.C661G:p.Q221E;ENSG00000173482:ENST00000400060:exon5:c.C661G:p.Q221E;ENSG00000173482:ENST00000400053:exon5:c.C475G:p.Q159E;	0.956450453188771	0.72
18	7926679	C	T	18	7926681	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon5:c.C661T:p.Q221X;PTPRM:NM_001105244:exon5:c.C661T:p.Q221X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon5:c.C661T:p.Q221X;ENSG00000173482:ENST00000580170:exon5:c.C661T:p.Q221X;ENSG00000173482:ENST00000400060:exon5:c.C661T:p.Q221X;ENSG00000173482:ENST00000400053:exon5:c.C475T:p.Q159X;	0.999858498999684	0.994
18	7926680	A	C	18	7926682	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.A662C:p.Q221P;PTPRM:NM_001105244:exon5:c.A662C:p.Q221P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.A662C:p.Q221P;ENSG00000173482:ENST00000580170:exon5:c.A662C:p.Q221P;ENSG00000173482:ENST00000400060:exon5:c.A662C:p.Q221P;ENSG00000173482:ENST00000400053:exon5:c.A476C:p.Q159P;	0.999901536834151	0.992
18	7926680	A	G	18	7926682	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.A662G:p.Q221R;PTPRM:NM_001105244:exon5:c.A662G:p.Q221R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.A662G:p.Q221R;ENSG00000173482:ENST00000580170:exon5:c.A662G:p.Q221R;ENSG00000173482:ENST00000400060:exon5:c.A662G:p.Q221R;ENSG00000173482:ENST00000400053:exon5:c.A476G:p.Q159R;	0.999936083846172	1.0
18	7926680	A	T	18	7926682	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.A662T:p.Q221L;PTPRM:NM_001105244:exon5:c.A662T:p.Q221L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.A662T:p.Q221L;ENSG00000173482:ENST00000580170:exon5:c.A662T:p.Q221L;ENSG00000173482:ENST00000400060:exon5:c.A662T:p.Q221L;ENSG00000173482:ENST00000400053:exon5:c.A476T:p.Q159L;	0.999888174515386	0.99
18	7926681	G	A	18	7926683	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon5:c.G663A:p.Q221Q;PTPRM:NM_001105244:exon5:c.G663A:p.Q221Q;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.G663A:p.Q221Q;ENSG00000173482:ENST00000580170:exon5:c.G663A:p.Q221Q;ENSG00000173482:ENST00000400060:exon5:c.G663A:p.Q221Q;ENSG00000173482:ENST00000400053:exon5:c.G477A:p.Q159Q;	0.999982626578764	1.0
18	7926681	G	C	18	7926683	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.G663C:p.Q221H;PTPRM:NM_001105244:exon5:c.G663C:p.Q221H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.G663C:p.Q221H;ENSG00000173482:ENST00000580170:exon5:c.G663C:p.Q221H;ENSG00000173482:ENST00000400060:exon5:c.G663C:p.Q221H;ENSG00000173482:ENST00000400053:exon5:c.G477C:p.Q159H;	0.999997627706868	0.994
18	7926681	G	T	18	7926683	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon5:c.G663T:p.Q221H;PTPRM:NM_001105244:exon5:c.G663T:p.Q221H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon5:c.G663T:p.Q221H;ENSG00000173482:ENST00000580170:exon5:c.G663T:p.Q221H;ENSG00000173482:ENST00000400060:exon5:c.G663T:p.Q221H;ENSG00000173482:ENST00000400053:exon5:c.G477T:p.Q159H;	0.999992581621154	0.978
18	7926682	G	A	18	7926684	y	y	splicing	PTPRM(NM_002845:exon5:c.663+1G>A;NM_001105244:exon5:c.663+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.663+1G>A;ENST00000580170:exon5:c.663+1G>A;ENST00000400060:exon5:c.663+1G>A;ENST00000400053:exon5:c.477+1G>A)	.	.	0.999986675681007	0.93
18	7926682	G	C	18	7926684	y	y	splicing	PTPRM(NM_002845:exon5:c.663+1G>C;NM_001105244:exon5:c.663+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.663+1G>C;ENST00000580170:exon5:c.663+1G>C;ENST00000400060:exon5:c.663+1G>C;ENST00000400053:exon5:c.477+1G>C)	.	.	0.999986675681007	0.93
18	7926682	G	T	18	7926684	y	y	splicing	PTPRM(NM_002845:exon5:c.663+1G>T;NM_001105244:exon5:c.663+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.663+1G>T;ENST00000580170:exon5:c.663+1G>T;ENST00000400060:exon5:c.663+1G>T;ENST00000400053:exon5:c.477+1G>T)	.	.	0.999986675681007	0.93
18	7926683	T	A	18	7926685	y	y	splicing	PTPRM(NM_002845:exon5:c.663+2T>A;NM_001105244:exon5:c.663+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.663+2T>A;ENST00000580170:exon5:c.663+2T>A;ENST00000400060:exon5:c.663+2T>A;ENST00000400053:exon5:c.477+2T>A)	.	.	0.999988247793601	0.926
18	7926683	T	C	18	7926685	y	y	splicing	PTPRM(NM_002845:exon5:c.663+2T>C;NM_001105244:exon5:c.663+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.663+2T>C;ENST00000580170:exon5:c.663+2T>C;ENST00000400060:exon5:c.663+2T>C;ENST00000400053:exon5:c.477+2T>C)	.	.	0.991057824102482	0.608
18	7926683	T	G	18	7926685	y	y	splicing	PTPRM(NM_002845:exon5:c.663+2T>G;NM_001105244:exon5:c.663+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon5:c.663+2T>G;ENST00000580170:exon5:c.663+2T>G;ENST00000400060:exon5:c.663+2T>G;ENST00000400053:exon5:c.477+2T>G)	.	.	0.999988247793601	0.92
18	7926684	A	C	18	7926686	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999849919042925	0.96
18	7926684	A	G	18	7926686	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.988767446451889	0.852
18	7926684	A	T	18	7926686	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999925711570289	0.952
18	7926685	C	A	18	7926687	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.84430702242107E-5	0.004
18	7926685	C	G	18	7926687	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.24758356524094E-4	0.028
18	7926685	C	T	18	7926687	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.57254891476439E-4	0.018
18	7926686	A	C	18	7926688	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.93073621339685E-5	0.01
18	7926686	A	G	18	7926688	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.28860444582884E-5	0.004
18	7926686	A	T	18	7926688	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.82246667725298E-4	0.004
18	7926687	G	A	18	7926689	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00200943500263374	0.088
18	7926687	G	C	18	7926689	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00131734620490645	0.058
18	7926687	G	T	18	7926689	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.78907370515944E-4	0.032
18	7926688	T	A	18	7926690	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.76298623646166E-4	0.002
18	7926688	T	C	18	7926690	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00110103512565048	0.012
18	7926688	T	G	18	7926690	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00111742904191638	0.01
18	7926689	A	C	18	7926691	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.55719136278339E-6	0.0
18	7926689	A	G	18	7926691	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.50426072948253E-5	0.002
18	7926689	A	T	18	7926691	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.27720647381089E-5	0.004
18	7946973	C	A	18	7946975	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.C22A:p.P8T;ENSG00000173482:ENST00000444013:exon1:c.C22A:p.P8T;	1.40244684246139E-4	0.026
18	7946973	C	G	18	7946975	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.C22G:p.P8A;ENSG00000173482:ENST00000444013:exon1:c.C22G:p.P8A;	1.40244684246139E-4	0.026
18	7946973	C	T	18	7946975	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.C22T:p.P8S;ENSG00000173482:ENST00000444013:exon1:c.C22T:p.P8S;	1.40244684246139E-4	0.026
18	7946974	C	A	18	7946976	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.C23A:p.P8H;ENSG00000173482:ENST00000444013:exon1:c.C23A:p.P8H;	1.90729588515235E-5	0.004
18	7946974	C	G	18	7946976	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.C23G:p.P8R;ENSG00000173482:ENST00000444013:exon1:c.C23G:p.P8R;	1.90729588515235E-5	0.004
18	7946974	C	T	18	7946976	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.C23T:p.P8L;ENSG00000173482:ENST00000444013:exon1:c.C23T:p.P8L;	3.53861234471585E-5	0.002
18	7946975	T	A	18	7946977	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.T24A:p.P8P;ENSG00000173482:ENST00000444013:exon1:c.T24A:p.P8P;	7.69968134076753E-4	0.0
18	7946975	T	C	18	7946977	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.T24C:p.P8P;ENSG00000173482:ENST00000444013:exon1:c.T24C:p.P8P;	8.89371736124219E-4	0.0
18	7946975	T	G	18	7946977	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000578916:exon1:c.T24G:p.P8P;ENSG00000173482:ENST00000444013:exon1:c.T24G:p.P8P;	8.89371736124219E-4	0.0
18	7946976	G	A	18	7946978	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000578916:exon1:c.24+1G>A;ENST00000444013:exon1:c.24+1G>A)	.	.	0.00182038306899683	0.058
18	7946976	G	C	18	7946978	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000578916:exon1:c.24+1G>C;ENST00000444013:exon1:c.24+1G>C)	.	.	0.00182038306899683	0.04
18	7946976	G	T	18	7946978	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000578916:exon1:c.24+1G>T;ENST00000444013:exon1:c.24+1G>T)	.	.	0.00182038306899683	0.038
18	7946977	T	A	18	7946979	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000578916:exon1:c.24+2T>A;ENST00000444013:exon1:c.24+2T>A)	.	.	1.16080636402324E-4	0.0
18	7946977	T	C	18	7946979	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000578916:exon1:c.24+2T>C;ENST00000444013:exon1:c.24+2T>C)	.	.	1.19087666414529E-4	0.0
18	7946977	T	G	18	7946979	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000578916:exon1:c.24+2T>G;ENST00000444013:exon1:c.24+2T>G)	.	.	1.19087666414529E-4	0.0
18	7946978	G	A	18	7946980	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0114711912866896	0.056
18	7946978	G	C	18	7946980	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0114711912866896	0.048
18	7946978	G	T	18	7946980	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0114711912866896	0.056
18	7946979	A	C	18	7946981	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.41539715814869E-4	0.024
18	7946979	A	G	18	7946981	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.41539715814869E-4	0.006
18	7946979	A	T	18	7946981	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.20688792087982E-4	0.008
18	7946980	G	A	18	7946982	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.03056377962419E-4	0.022
18	7946980	G	C	18	7946982	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.08042231235821E-4	0.044
18	7946980	G	T	18	7946982	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.03056377962419E-4	0.018
18	7946981	T	A	18	7946983	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.28536619264582E-4	0.064
18	7946981	T	C	18	7946983	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.28536619264582E-4	0.004
18	7946981	T	G	18	7946983	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.28536619264582E-4	0.004
18	7946982	T	A	18	7946984	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.59464440059759E-4	0.002
18	7946982	T	C	18	7946984	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.74046797087874E-5	0.0
18	7946982	T	G	18	7946984	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.74046797087874E-5	0.0
18	7946983	T	A	18	7946985	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.17909087657908E-4	0.0
18	7946983	T	C	18	7946985	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.73902940495253E-5	0.002
18	7946983	T	G	18	7946985	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.73902940495253E-5	0.012
18	7949167	C	A	18	7949169	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.53928257055116E-4	0.014
18	7949167	C	G	18	7949169	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.35168531061702E-4	0.034
18	7949167	C	T	18	7949169	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.48040621308233E-5	0.0
18	7949168	A	C	18	7949170	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.12045736040035E-5	0.004
18	7949168	A	G	18	7949170	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.49658977386562E-6	0.008
18	7949168	A	T	18	7949170	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.49043395453664E-5	0.036
18	7949169	C	A	18	7949171	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.99272929467624E-5	0.054
18	7949169	C	G	18	7949171	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.953530851293816	0.41
18	7949169	C	T	18	7949171	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.27219349862041E-5	0.0
18	7949170	T	A	18	7949172	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00993940336518546	0.158
18	7949170	T	C	18	7949172	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.11458963883352E-5	0.0
18	7949170	T	G	18	7949172	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.041891868662228	0.308
18	7949171	T	A	18	7949173	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999911418724075	0.986
18	7949171	T	C	18	7949173	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.57240998513836E-4	0.072
18	7949171	T	G	18	7949173	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.138165650012163	0.484
18	7949172	G	A	18	7949174	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.601730669415E-4	0.064
18	7949172	G	C	18	7949174	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.47455874760572E-4	0.032
18	7949172	G	T	18	7949174	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.71849169309553E-4	0.07
18	7949173	A	C	18	7949175	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.37769381789961E-5	0.038
18	7949173	A	G	18	7949175	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.70420221583821E-4	0.046
18	7949173	A	T	18	7949175	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.38802895284725E-4	0.084
18	7949174	T	A	18	7949176	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.146434852315948	0.652
18	7949174	T	C	18	7949176	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00106617228861086	0.084
18	7949174	T	G	18	7949176	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999934193086359	0.952
18	7949175	A	C	18	7949177	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.65208250483806E-5	0.026
18	7949175	A	G	18	7949177	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.85604260857811E-4	0.032
18	7949175	A	T	18	7949177	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.87931122012494E-4	0.02
18	7949176	C	A	18	7949178	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.984489126452704	0.838
18	7949176	C	G	18	7949178	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999175804544427	0.906
18	7949176	C	T	18	7949178	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.49565437753006E-4	0.142
18	7949177	A	C	18	7949179	y	y	splicing	PTPRM(NM_002845:exon6:c.664-2A>C;NM_001105244:exon6:c.664-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.664-2A>C;ENST00000580170:exon6:c.664-2A>C;ENST00000400060:exon6:c.664-2A>C;ENST00000400053:exon6:c.478-2A>C;ENST00000578916:exon2:c.25-2A>C;ENST00000444013:exon2:c.25-2A>C)	.	.	0.999966596996941	0.93
18	7949177	A	G	18	7949179	y	y	splicing	PTPRM(NM_002845:exon6:c.664-2A>G;NM_001105244:exon6:c.664-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.664-2A>G;ENST00000580170:exon6:c.664-2A>G;ENST00000400060:exon6:c.664-2A>G;ENST00000400053:exon6:c.478-2A>G;ENST00000578916:exon2:c.25-2A>G;ENST00000444013:exon2:c.25-2A>G)	.	.	0.999966596996941	0.93
18	7949177	A	T	18	7949179	y	y	splicing	PTPRM(NM_002845:exon6:c.664-2A>T;NM_001105244:exon6:c.664-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.664-2A>T;ENST00000580170:exon6:c.664-2A>T;ENST00000400060:exon6:c.664-2A>T;ENST00000400053:exon6:c.478-2A>T;ENST00000578916:exon2:c.25-2A>T;ENST00000444013:exon2:c.25-2A>T)	.	.	0.999966596996941	0.92
18	7949178	G	A	18	7949180	y	y	splicing	PTPRM(NM_002845:exon6:c.664-1G>A;NM_001105244:exon6:c.664-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.664-1G>A;ENST00000580170:exon6:c.664-1G>A;ENST00000400060:exon6:c.664-1G>A;ENST00000400053:exon6:c.478-1G>A;ENST00000578916:exon2:c.25-1G>A;ENST00000444013:exon2:c.25-1G>A)	.	.	0.999993444959628	0.93
18	7949178	G	C	18	7949180	y	y	splicing	PTPRM(NM_002845:exon6:c.664-1G>C;NM_001105244:exon6:c.664-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.664-1G>C;ENST00000580170:exon6:c.664-1G>C;ENST00000400060:exon6:c.664-1G>C;ENST00000400053:exon6:c.478-1G>C;ENST00000578916:exon2:c.25-1G>C;ENST00000444013:exon2:c.25-1G>C)	.	.	0.999993444959628	0.928
18	7949178	G	T	18	7949180	y	y	splicing	PTPRM(NM_002845:exon6:c.664-1G>T;NM_001105244:exon6:c.664-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.664-1G>T;ENST00000580170:exon6:c.664-1G>T;ENST00000400060:exon6:c.664-1G>T;ENST00000400053:exon6:c.478-1G>T;ENST00000578916:exon2:c.25-1G>T;ENST00000444013:exon2:c.25-1G>T)	.	.	0.999993444959628	0.928
18	7949179	G	A	18	7949181	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.G664A:p.G222S;PTPRM:NM_001105244:exon6:c.G664A:p.G222S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.G664A:p.G222S;ENSG00000173482:ENST00000578916:exon2:c.G25A:p.G9S;ENSG00000173482:ENST00000580170:exon6:c.G664A:p.G222S;ENSG00000173482:ENST00000400060:exon6:c.G664A:p.G222S;ENSG00000173482:ENST00000444013:exon2:c.G25A:p.G9S;ENSG00000173482:ENST00000400053:exon6:c.G478A:p.G160S;	0.99358935237975	0.792
18	7949179	G	C	18	7949181	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.G664C:p.G222R;PTPRM:NM_001105244:exon6:c.G664C:p.G222R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.G664C:p.G222R;ENSG00000173482:ENST00000578916:exon2:c.G25C:p.G9R;ENSG00000173482:ENST00000580170:exon6:c.G664C:p.G222R;ENSG00000173482:ENST00000400060:exon6:c.G664C:p.G222R;ENSG00000173482:ENST00000444013:exon2:c.G25C:p.G9R;ENSG00000173482:ENST00000400053:exon6:c.G478C:p.G160R;	0.97832743513267	0.716
18	7949179	G	T	18	7949181	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.G664T:p.G222C;PTPRM:NM_001105244:exon6:c.G664T:p.G222C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.G664T:p.G222C;ENSG00000173482:ENST00000578916:exon2:c.G25T:p.G9C;ENSG00000173482:ENST00000580170:exon6:c.G664T:p.G222C;ENSG00000173482:ENST00000400060:exon6:c.G664T:p.G222C;ENSG00000173482:ENST00000444013:exon2:c.G25T:p.G9C;ENSG00000173482:ENST00000400053:exon6:c.G478T:p.G160C;	0.998278573525379	0.766
18	7949180	G	A	18	7949182	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.G665A:p.G222D;PTPRM:NM_001105244:exon6:c.G665A:p.G222D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.G665A:p.G222D;ENSG00000173482:ENST00000578916:exon2:c.G26A:p.G9D;ENSG00000173482:ENST00000580170:exon6:c.G665A:p.G222D;ENSG00000173482:ENST00000400060:exon6:c.G665A:p.G222D;ENSG00000173482:ENST00000444013:exon2:c.G26A:p.G9D;ENSG00000173482:ENST00000400053:exon6:c.G479A:p.G160D;	0.692153096500021	0.388
18	7949180	G	C	18	7949182	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.G665C:p.G222A;PTPRM:NM_001105244:exon6:c.G665C:p.G222A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.G665C:p.G222A;ENSG00000173482:ENST00000578916:exon2:c.G26C:p.G9A;ENSG00000173482:ENST00000580170:exon6:c.G665C:p.G222A;ENSG00000173482:ENST00000400060:exon6:c.G665C:p.G222A;ENSG00000173482:ENST00000444013:exon2:c.G26C:p.G9A;ENSG00000173482:ENST00000400053:exon6:c.G479C:p.G160A;	0.0618909407008777	0.234
18	7949180	G	T	18	7949182	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.G665T:p.G222V;PTPRM:NM_001105244:exon6:c.G665T:p.G222V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.G665T:p.G222V;ENSG00000173482:ENST00000578916:exon2:c.G26T:p.G9V;ENSG00000173482:ENST00000580170:exon6:c.G665T:p.G222V;ENSG00000173482:ENST00000400060:exon6:c.G665T:p.G222V;ENSG00000173482:ENST00000444013:exon2:c.G26T:p.G9V;ENSG00000173482:ENST00000400053:exon6:c.G479T:p.G160V;	0.00826506045169722	0.11
18	7949351	A	C	18	7949353	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.A836C:p.K279T;PTPRM:NM_001105244:exon6:c.A836C:p.K279T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.A836C:p.K279T;ENSG00000173482:ENST00000578916:exon2:c.A197C:p.K66T;ENSG00000173482:ENST00000580170:exon6:c.A836C:p.K279T;ENSG00000173482:ENST00000400060:exon6:c.A836C:p.K279T;ENSG00000173482:ENST00000444013:exon2:c.A197C:p.K66T;ENSG00000173482:ENST00000400053:exon6:c.A650C:p.K217T;	0.0844933711764132	0.318
18	7949351	A	G	18	7949353	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.A836G:p.K279R;PTPRM:NM_001105244:exon6:c.A836G:p.K279R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.A836G:p.K279R;ENSG00000173482:ENST00000578916:exon2:c.A197G:p.K66R;ENSG00000173482:ENST00000580170:exon6:c.A836G:p.K279R;ENSG00000173482:ENST00000400060:exon6:c.A836G:p.K279R;ENSG00000173482:ENST00000444013:exon2:c.A197G:p.K66R;ENSG00000173482:ENST00000400053:exon6:c.A650G:p.K217R;	0.365372949564659	0.406
18	7949351	A	T	18	7949353	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.A836T:p.K279I;PTPRM:NM_001105244:exon6:c.A836T:p.K279I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.A836T:p.K279I;ENSG00000173482:ENST00000578916:exon2:c.A197T:p.K66I;ENSG00000173482:ENST00000580170:exon6:c.A836T:p.K279I;ENSG00000173482:ENST00000400060:exon6:c.A836T:p.K279I;ENSG00000173482:ENST00000444013:exon2:c.A197T:p.K66I;ENSG00000173482:ENST00000400053:exon6:c.A650T:p.K217I;	0.995625235203241	0.858
18	7949352	A	C	18	7949354	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.A837C:p.K279N;PTPRM:NM_001105244:exon6:c.A837C:p.K279N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.A837C:p.K279N;ENSG00000173482:ENST00000578916:exon2:c.A198C:p.K66N;ENSG00000173482:ENST00000580170:exon6:c.A837C:p.K279N;ENSG00000173482:ENST00000400060:exon6:c.A837C:p.K279N;ENSG00000173482:ENST00000444013:exon2:c.A198C:p.K66N;ENSG00000173482:ENST00000400053:exon6:c.A651C:p.K217N;	0.999624709754415	0.998
18	7949352	A	G	18	7949354	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon6:c.A837G:p.K279K;PTPRM:NM_001105244:exon6:c.A837G:p.K279K;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.A837G:p.K279K;ENSG00000173482:ENST00000578916:exon2:c.A198G:p.K66K;ENSG00000173482:ENST00000580170:exon6:c.A837G:p.K279K;ENSG00000173482:ENST00000400060:exon6:c.A837G:p.K279K;ENSG00000173482:ENST00000444013:exon2:c.A198G:p.K66K;ENSG00000173482:ENST00000400053:exon6:c.A651G:p.K217K;	0.999902100892151	0.994
18	7949352	A	T	18	7949354	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.A837T:p.K279N;PTPRM:NM_001105244:exon6:c.A837T:p.K279N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.A837T:p.K279N;ENSG00000173482:ENST00000578916:exon2:c.A198T:p.K66N;ENSG00000173482:ENST00000580170:exon6:c.A837T:p.K279N;ENSG00000173482:ENST00000400060:exon6:c.A837T:p.K279N;ENSG00000173482:ENST00000444013:exon2:c.A198T:p.K66N;ENSG00000173482:ENST00000400053:exon6:c.A651T:p.K217N;	0.999839923410053	0.988
18	7949353	G	A	18	7949355	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.G838A:p.E280K;PTPRM:NM_001105244:exon6:c.G838A:p.E280K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.G838A:p.E280K;ENSG00000173482:ENST00000578916:exon2:c.G199A:p.E67K;ENSG00000173482:ENST00000580170:exon6:c.G838A:p.E280K;ENSG00000173482:ENST00000400060:exon6:c.G838A:p.E280K;ENSG00000173482:ENST00000444013:exon2:c.G199A:p.E67K;ENSG00000173482:ENST00000400053:exon6:c.G652A:p.E218K;	0.999985974559546	0.998
18	7949353	G	C	18	7949355	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon6:c.G838C:p.E280Q;PTPRM:NM_001105244:exon6:c.G838C:p.E280Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon6:c.G838C:p.E280Q;ENSG00000173482:ENST00000578916:exon2:c.G199C:p.E67Q;ENSG00000173482:ENST00000580170:exon6:c.G838C:p.E280Q;ENSG00000173482:ENST00000400060:exon6:c.G838C:p.E280Q;ENSG00000173482:ENST00000444013:exon2:c.G199C:p.E67Q;ENSG00000173482:ENST00000400053:exon6:c.G652C:p.E218Q;	0.999996781134116	0.994
18	7949353	G	T	18	7949355	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon6:c.G838T:p.E280X;PTPRM:NM_001105244:exon6:c.G838T:p.E280X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon6:c.G838T:p.E280X;ENSG00000173482:ENST00000578916:exon2:c.G199T:p.E67X;ENSG00000173482:ENST00000580170:exon6:c.G838T:p.E280X;ENSG00000173482:ENST00000400060:exon6:c.G838T:p.E280X;ENSG00000173482:ENST00000444013:exon2:c.G199T:p.E67X;ENSG00000173482:ENST00000400053:exon6:c.G652T:p.E218X;	0.999994022190294	0.968
18	7949354	G	A	18	7949356	y	y	splicing	PTPRM(NM_002845:exon6:c.838+1G>A;NM_001105244:exon6:c.838+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.838+1G>A;ENST00000580170:exon6:c.838+1G>A;ENST00000400060:exon6:c.838+1G>A;ENST00000400053:exon6:c.652+1G>A;ENST00000578916:exon2:c.199+1G>A;ENST00000444013:exon2:c.199+1G>A)	.	.	0.999987124402133	0.958
18	7949354	G	C	18	7949356	y	y	splicing	PTPRM(NM_002845:exon6:c.838+1G>C;NM_001105244:exon6:c.838+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.838+1G>C;ENST00000580170:exon6:c.838+1G>C;ENST00000400060:exon6:c.838+1G>C;ENST00000400053:exon6:c.652+1G>C;ENST00000578916:exon2:c.199+1G>C;ENST00000444013:exon2:c.199+1G>C)	.	.	0.999987124402133	0.958
18	7949354	G	T	18	7949356	y	y	splicing	PTPRM(NM_002845:exon6:c.838+1G>T;NM_001105244:exon6:c.838+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.838+1G>T;ENST00000580170:exon6:c.838+1G>T;ENST00000400060:exon6:c.838+1G>T;ENST00000400053:exon6:c.652+1G>T;ENST00000578916:exon2:c.199+1G>T;ENST00000444013:exon2:c.199+1G>T)	.	.	0.999987124402133	0.958
18	7949355	T	A	18	7949357	y	y	splicing	PTPRM(NM_002845:exon6:c.838+2T>A;NM_001105244:exon6:c.838+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.838+2T>A;ENST00000580170:exon6:c.838+2T>A;ENST00000400060:exon6:c.838+2T>A;ENST00000400053:exon6:c.652+2T>A;ENST00000578916:exon2:c.199+2T>A;ENST00000444013:exon2:c.199+2T>A)	.	.	0.999981808176352	0.94
18	7949355	T	C	18	7949357	y	y	splicing	PTPRM(NM_002845:exon6:c.838+2T>C;NM_001105244:exon6:c.838+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.838+2T>C;ENST00000580170:exon6:c.838+2T>C;ENST00000400060:exon6:c.838+2T>C;ENST00000400053:exon6:c.652+2T>C;ENST00000578916:exon2:c.199+2T>C;ENST00000444013:exon2:c.199+2T>C)	.	.	0.988611915353586	0.586
18	7949355	T	G	18	7949357	y	y	splicing	PTPRM(NM_002845:exon6:c.838+2T>G;NM_001105244:exon6:c.838+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon6:c.838+2T>G;ENST00000580170:exon6:c.838+2T>G;ENST00000400060:exon6:c.838+2T>G;ENST00000400053:exon6:c.652+2T>G;ENST00000578916:exon2:c.199+2T>G;ENST00000444013:exon2:c.199+2T>G)	.	.	0.999981808176352	0.94
18	7949356	A	C	18	7949358	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999910807585473	0.954
18	7949356	A	G	18	7949358	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999869933967577	0.978
18	7949356	A	T	18	7949358	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999348443091191	0.962
18	7949357	T	A	18	7949359	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.65403161522724E-5	0.002
18	7949357	T	C	18	7949359	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.6746722966159E-4	0.076
18	7949357	T	G	18	7949359	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.20367459104224E-4	0.028
18	7949358	T	A	18	7949360	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00211813015009456	0.012
18	7949358	T	C	18	7949360	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00640223077118362	0.048
18	7949358	T	G	18	7949360	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.48441354942779E-4	0.012
18	7949359	T	A	18	7949361	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0701791007739948	0.246
18	7949359	T	C	18	7949361	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0331602891492465	0.34
18	7949359	T	G	18	7949361	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00667368913432391	0.274
18	7949360	A	C	18	7949362	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.014226918651375	0.05
18	7949360	A	G	18	7949362	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0100081912971237	0.068
18	7949360	A	T	18	7949362	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0527799437898621	0.098
18	7949361	A	C	18	7949363	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.03881254229602E-4	0.006
18	7949361	A	G	18	7949363	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.19268431820618E-4	0.054
18	7949361	A	T	18	7949363	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.57143001507033E-4	0.004
18	7955107	T	A	18	7955109	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00944964404182669	0.136
18	7955107	T	C	18	7955109	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.13764009598185E-4	0.0
18	7955107	T	G	18	7955109	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0098864059281991	0.156
18	7955108	T	A	18	7955110	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.412211890584343	0.582
18	7955108	T	C	18	7955110	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00254070824079334	0.082
18	7955108	T	G	18	7955110	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.169316091475719	0.554
18	7955109	T	A	18	7955111	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999926876099155	0.954
18	7955109	T	C	18	7955111	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0557627510801346	0.35
18	7955109	T	G	18	7955111	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99441098855218	0.88
18	7955110	G	A	18	7955112	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.55985536538226E-4	0.022
18	7955110	G	C	18	7955112	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.6792666923673E-5	0.002
18	7955110	G	T	18	7955112	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.72187077278644E-4	0.004
18	7955111	T	A	18	7955113	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.010549467813177	0.076
18	7955111	T	C	18	7955113	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.16019537368407E-4	0.002
18	7955111	T	G	18	7955113	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00352518724220494	0.102
18	7955112	C	A	18	7955114	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00331376800288019	0.074
18	7955112	C	G	18	7955114	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00318556130370945	0.092
18	7955112	C	T	18	7955114	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.43937069912557E-4	0.006
18	7955113	T	A	18	7955115	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.981715159087615	0.816
18	7955113	T	C	18	7955115	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0109240401153715	0.154
18	7955113	T	G	18	7955115	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.922840654504543	0.762
18	7955114	T	A	18	7955116	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997133455727891	0.908
18	7955114	T	C	18	7955116	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.632924674505593	0.554
18	7955114	T	G	18	7955116	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.995968452374952	0.94
18	7955115	T	A	18	7955117	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.19882306861362E-5	0.002
18	7955115	T	C	18	7955117	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.52798382659759E-5	0.066
18	7955115	T	G	18	7955117	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.80115531105951E-5	0.006
18	7955116	C	A	18	7955118	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.957081481505523	0.716
18	7955116	C	G	18	7955118	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99989735417466	0.97
18	7955116	C	T	18	7955118	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0112739185872233	0.052
18	7955117	A	C	18	7955119	y	y	splicing	PTPRM(NM_002845:exon7:c.839-2A>C;NM_001105244:exon7:c.839-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.839-2A>C;ENST00000580170:exon7:c.839-2A>C;ENST00000400060:exon7:c.839-2A>C;ENST00000400053:exon7:c.653-2A>C;ENST00000578916:exon3:c.200-2A>C;ENST00000444013:exon3:c.200-2A>C)	.	.	0.999988247793601	0.93
18	7955117	A	G	18	7955119	y	y	splicing	PTPRM(NM_002845:exon7:c.839-2A>G;NM_001105244:exon7:c.839-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.839-2A>G;ENST00000580170:exon7:c.839-2A>G;ENST00000400060:exon7:c.839-2A>G;ENST00000400053:exon7:c.653-2A>G;ENST00000578916:exon3:c.200-2A>G;ENST00000444013:exon3:c.200-2A>G)	.	.	0.999988247793601	0.93
18	7955117	A	T	18	7955119	y	y	splicing	PTPRM(NM_002845:exon7:c.839-2A>T;NM_001105244:exon7:c.839-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.839-2A>T;ENST00000580170:exon7:c.839-2A>T;ENST00000400060:exon7:c.839-2A>T;ENST00000400053:exon7:c.653-2A>T;ENST00000578916:exon3:c.200-2A>T;ENST00000444013:exon3:c.200-2A>T)	.	.	0.999988247793601	0.93
18	7955118	G	A	18	7955120	y	y	splicing	PTPRM(NM_002845:exon7:c.839-1G>A;NM_001105244:exon7:c.839-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.839-1G>A;ENST00000580170:exon7:c.839-1G>A;ENST00000400060:exon7:c.839-1G>A;ENST00000400053:exon7:c.653-1G>A;ENST00000578916:exon3:c.200-1G>A;ENST00000444013:exon3:c.200-1G>A)	.	.	0.999990361384395	0.938
18	7955118	G	C	18	7955120	y	y	splicing	PTPRM(NM_002845:exon7:c.839-1G>C;NM_001105244:exon7:c.839-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.839-1G>C;ENST00000580170:exon7:c.839-1G>C;ENST00000400060:exon7:c.839-1G>C;ENST00000400053:exon7:c.653-1G>C;ENST00000578916:exon3:c.200-1G>C;ENST00000444013:exon3:c.200-1G>C)	.	.	0.999990361384395	0.938
18	7955118	G	T	18	7955120	y	y	splicing	PTPRM(NM_002845:exon7:c.839-1G>T;NM_001105244:exon7:c.839-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.839-1G>T;ENST00000580170:exon7:c.839-1G>T;ENST00000400060:exon7:c.839-1G>T;ENST00000400053:exon7:c.653-1G>T;ENST00000578916:exon3:c.200-1G>T;ENST00000444013:exon3:c.200-1G>T)	.	.	0.999990361384395	0.938
18	7955119	A	C	18	7955121	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.A839C:p.E280A;PTPRM:NM_001105244:exon7:c.A839C:p.E280A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.A839C:p.E280A;ENSG00000173482:ENST00000578916:exon3:c.A200C:p.E67A;ENSG00000173482:ENST00000580170:exon7:c.A839C:p.E280A;ENSG00000173482:ENST00000400060:exon7:c.A839C:p.E280A;ENSG00000173482:ENST00000444013:exon3:c.A200C:p.E67A;ENSG00000173482:ENST00000400053:exon7:c.A653C:p.E218A;	0.875770539506897	0.594
18	7955119	A	G	18	7955121	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.A839G:p.E280G;PTPRM:NM_001105244:exon7:c.A839G:p.E280G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.A839G:p.E280G;ENSG00000173482:ENST00000578916:exon3:c.A200G:p.E67G;ENSG00000173482:ENST00000580170:exon7:c.A839G:p.E280G;ENSG00000173482:ENST00000400060:exon7:c.A839G:p.E280G;ENSG00000173482:ENST00000444013:exon3:c.A200G:p.E67G;ENSG00000173482:ENST00000400053:exon7:c.A653G:p.E218G;	0.255815464660813	0.524
18	7955119	A	T	18	7955121	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.A839T:p.E280V;PTPRM:NM_001105244:exon7:c.A839T:p.E280V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.A839T:p.E280V;ENSG00000173482:ENST00000578916:exon3:c.A200T:p.E67V;ENSG00000173482:ENST00000580170:exon7:c.A839T:p.E280V;ENSG00000173482:ENST00000400060:exon7:c.A839T:p.E280V;ENSG00000173482:ENST00000444013:exon3:c.A200T:p.E67V;ENSG00000173482:ENST00000400053:exon7:c.A653T:p.E218V;	0.864175853869924	0.61
18	7955120	A	C	18	7955122	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.A840C:p.E280D;PTPRM:NM_001105244:exon7:c.A840C:p.E280D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.A840C:p.E280D;ENSG00000173482:ENST00000578916:exon3:c.A201C:p.E67D;ENSG00000173482:ENST00000580170:exon7:c.A840C:p.E280D;ENSG00000173482:ENST00000400060:exon7:c.A840C:p.E280D;ENSG00000173482:ENST00000444013:exon3:c.A201C:p.E67D;ENSG00000173482:ENST00000400053:exon7:c.A654C:p.E218D;	3.212876160835E-4	0.04
18	7955120	A	G	18	7955122	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon7:c.A840G:p.E280E;PTPRM:NM_001105244:exon7:c.A840G:p.E280E;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.A840G:p.E280E;ENSG00000173482:ENST00000578916:exon3:c.A201G:p.E67E;ENSG00000173482:ENST00000580170:exon7:c.A840G:p.E280E;ENSG00000173482:ENST00000400060:exon7:c.A840G:p.E280E;ENSG00000173482:ENST00000444013:exon3:c.A201G:p.E67E;ENSG00000173482:ENST00000400053:exon7:c.A654G:p.E218E;	8.92068081553542E-5	0.036
18	7955120	A	T	18	7955122	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.A840T:p.E280D;PTPRM:NM_001105244:exon7:c.A840T:p.E280D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.A840T:p.E280D;ENSG00000173482:ENST00000578916:exon3:c.A201T:p.E67D;ENSG00000173482:ENST00000580170:exon7:c.A840T:p.E280D;ENSG00000173482:ENST00000400060:exon7:c.A840T:p.E280D;ENSG00000173482:ENST00000444013:exon3:c.A201T:p.E67D;ENSG00000173482:ENST00000400053:exon7:c.A654T:p.E218D;	1.50339667322567E-6	0.028
18	7955410	C	A	18	7955412	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.C1130A:p.A377D;PTPRM:NM_001105244:exon7:c.C1130A:p.A377D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.C1130A:p.A377D;ENSG00000173482:ENST00000578916:exon3:c.C491A:p.A164D;ENSG00000173482:ENST00000580170:exon7:c.C1130A:p.A377D;ENSG00000173482:ENST00000400060:exon7:c.C1130A:p.A377D;ENSG00000173482:ENST00000444013:exon3:c.C491A:p.A164D;ENSG00000173482:ENST00000400053:exon7:c.C944A:p.A315D;	0.950034706900191	0.752
18	7955410	C	G	18	7955412	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.C1130G:p.A377G;PTPRM:NM_001105244:exon7:c.C1130G:p.A377G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.C1130G:p.A377G;ENSG00000173482:ENST00000578916:exon3:c.C491G:p.A164G;ENSG00000173482:ENST00000580170:exon7:c.C1130G:p.A377G;ENSG00000173482:ENST00000400060:exon7:c.C1130G:p.A377G;ENSG00000173482:ENST00000444013:exon3:c.C491G:p.A164G;ENSG00000173482:ENST00000400053:exon7:c.C944G:p.A315G;	0.919735599210792	0.622
18	7955410	C	T	18	7955412	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.C1130T:p.A377V;PTPRM:NM_001105244:exon7:c.C1130T:p.A377V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.C1130T:p.A377V;ENSG00000173482:ENST00000578916:exon3:c.C491T:p.A164V;ENSG00000173482:ENST00000580170:exon7:c.C1130T:p.A377V;ENSG00000173482:ENST00000400060:exon7:c.C1130T:p.A377V;ENSG00000173482:ENST00000444013:exon3:c.C491T:p.A164V;ENSG00000173482:ENST00000400053:exon7:c.C944T:p.A315V;	0.998784508858005	0.726
18	7955411	T	A	18	7955413	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon7:c.T1131A:p.A377A;PTPRM:NM_001105244:exon7:c.T1131A:p.A377A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.T1131A:p.A377A;ENSG00000173482:ENST00000578916:exon3:c.T492A:p.A164A;ENSG00000173482:ENST00000580170:exon7:c.T1131A:p.A377A;ENSG00000173482:ENST00000400060:exon7:c.T1131A:p.A377A;ENSG00000173482:ENST00000444013:exon3:c.T492A:p.A164A;ENSG00000173482:ENST00000400053:exon7:c.T945A:p.A315A;	5.28320195086653E-5	0.058
18	7955411	T	C	18	7955413	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon7:c.T1131C:p.A377A;PTPRM:NM_001105244:exon7:c.T1131C:p.A377A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.T1131C:p.A377A;ENSG00000173482:ENST00000578916:exon3:c.T492C:p.A164A;ENSG00000173482:ENST00000580170:exon7:c.T1131C:p.A377A;ENSG00000173482:ENST00000400060:exon7:c.T1131C:p.A377A;ENSG00000173482:ENST00000444013:exon3:c.T492C:p.A164A;ENSG00000173482:ENST00000400053:exon7:c.T945C:p.A315A;	3.63274890667166E-5	0.002
18	7955411	T	G	18	7955413	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon7:c.T1131G:p.A377A;PTPRM:NM_001105244:exon7:c.T1131G:p.A377A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.T1131G:p.A377A;ENSG00000173482:ENST00000578916:exon3:c.T492G:p.A164A;ENSG00000173482:ENST00000580170:exon7:c.T1131G:p.A377A;ENSG00000173482:ENST00000400060:exon7:c.T1131G:p.A377A;ENSG00000173482:ENST00000444013:exon3:c.T492G:p.A164A;ENSG00000173482:ENST00000400053:exon7:c.T945G:p.A315A;	9.46782678065323E-5	0.006
18	7955412	G	A	18	7955414	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.G1132A:p.D378N;PTPRM:NM_001105244:exon7:c.G1132A:p.D378N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.G1132A:p.D378N;ENSG00000173482:ENST00000578916:exon3:c.G493A:p.D165N;ENSG00000173482:ENST00000580170:exon7:c.G1132A:p.D378N;ENSG00000173482:ENST00000400060:exon7:c.G1132A:p.D378N;ENSG00000173482:ENST00000444013:exon3:c.G493A:p.D165N;ENSG00000173482:ENST00000400053:exon7:c.G946A:p.D316N;	0.999983026458692	0.99
18	7955412	G	C	18	7955414	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.G1132C:p.D378H;PTPRM:NM_001105244:exon7:c.G1132C:p.D378H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.G1132C:p.D378H;ENSG00000173482:ENST00000578916:exon3:c.G493C:p.D165H;ENSG00000173482:ENST00000580170:exon7:c.G1132C:p.D378H;ENSG00000173482:ENST00000400060:exon7:c.G1132C:p.D378H;ENSG00000173482:ENST00000444013:exon3:c.G493C:p.D165H;ENSG00000173482:ENST00000400053:exon7:c.G946C:p.D316H;	0.999941942618899	0.958
18	7955412	G	T	18	7955414	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon7:c.G1132T:p.D378Y;PTPRM:NM_001105244:exon7:c.G1132T:p.D378Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon7:c.G1132T:p.D378Y;ENSG00000173482:ENST00000578916:exon3:c.G493T:p.D165Y;ENSG00000173482:ENST00000580170:exon7:c.G1132T:p.D378Y;ENSG00000173482:ENST00000400060:exon7:c.G1132T:p.D378Y;ENSG00000173482:ENST00000444013:exon3:c.G493T:p.D165Y;ENSG00000173482:ENST00000400053:exon7:c.G946T:p.D316Y;	0.999830740803028	0.93
18	7955413	G	A	18	7955415	y	y	splicing	PTPRM(NM_002845:exon7:c.1132+1G>A;NM_001105244:exon7:c.1132+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.1132+1G>A;ENST00000580170:exon7:c.1132+1G>A;ENST00000400060:exon7:c.1132+1G>A;ENST00000400053:exon7:c.946+1G>A;ENST00000578916:exon3:c.493+1G>A;ENST00000444013:exon3:c.493+1G>A)	.	.	0.999990361384395	0.938
18	7955413	G	C	18	7955415	y	y	splicing	PTPRM(NM_002845:exon7:c.1132+1G>C;NM_001105244:exon7:c.1132+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.1132+1G>C;ENST00000580170:exon7:c.1132+1G>C;ENST00000400060:exon7:c.1132+1G>C;ENST00000400053:exon7:c.946+1G>C;ENST00000578916:exon3:c.493+1G>C;ENST00000444013:exon3:c.493+1G>C)	.	.	0.999990361384395	0.938
18	7955413	G	T	18	7955415	y	y	splicing	PTPRM(NM_002845:exon7:c.1132+1G>T;NM_001105244:exon7:c.1132+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.1132+1G>T;ENST00000580170:exon7:c.1132+1G>T;ENST00000400060:exon7:c.1132+1G>T;ENST00000400053:exon7:c.946+1G>T;ENST00000578916:exon3:c.493+1G>T;ENST00000444013:exon3:c.493+1G>T)	.	.	0.999990361384395	0.938
18	7955414	T	A	18	7955416	y	y	splicing	PTPRM(NM_002845:exon7:c.1132+2T>A;NM_001105244:exon7:c.1132+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.1132+2T>A;ENST00000580170:exon7:c.1132+2T>A;ENST00000400060:exon7:c.1132+2T>A;ENST00000400053:exon7:c.946+2T>A;ENST00000578916:exon3:c.493+2T>A;ENST00000444013:exon3:c.493+2T>A)	.	.	0.999988247793601	0.93
18	7955414	T	C	18	7955416	y	y	splicing	PTPRM(NM_002845:exon7:c.1132+2T>C;NM_001105244:exon7:c.1132+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.1132+2T>C;ENST00000580170:exon7:c.1132+2T>C;ENST00000400060:exon7:c.1132+2T>C;ENST00000400053:exon7:c.946+2T>C;ENST00000578916:exon3:c.493+2T>C;ENST00000444013:exon3:c.493+2T>C)	.	.	0.999929727175276	0.87
18	7955414	T	G	18	7955416	y	y	splicing	PTPRM(NM_002845:exon7:c.1132+2T>G;NM_001105244:exon7:c.1132+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon7:c.1132+2T>G;ENST00000580170:exon7:c.1132+2T>G;ENST00000400060:exon7:c.1132+2T>G;ENST00000400053:exon7:c.946+2T>G;ENST00000578916:exon3:c.493+2T>G;ENST00000444013:exon3:c.493+2T>G)	.	.	0.999988247793601	0.93
18	7955415	G	A	18	7955417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.71944691387415E-4	0.01
18	7955415	G	C	18	7955417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.991872880946587	0.83
18	7955415	G	T	18	7955417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.982682107937418	0.76
18	7955416	A	C	18	7955418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99629238870659	0.892
18	7955416	A	G	18	7955418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998116924030324	0.944
18	7955416	A	T	18	7955418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997972627889495	0.898
18	7955417	G	A	18	7955419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999912026623758	0.88
18	7955417	G	C	18	7955419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999958361478828	0.93
18	7955417	G	T	18	7955419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999912026623758	0.894
18	7955418	T	A	18	7955420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.995803354337839	0.894
18	7955418	T	C	18	7955420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.993656912947886	0.812
18	7955418	T	G	18	7955420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.993169056111134	0.742
18	7955419	A	C	18	7955421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.83063522924023E-5	0.0
18	7955419	A	G	18	7955421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.32817365268549E-4	0.0
18	7955419	A	T	18	7955421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.50464131710614E-4	0.0
18	7955420	T	A	18	7955422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.01040727342194E-5	0.0
18	7955420	T	C	18	7955422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.89828664134725E-5	0.002
18	7955420	T	G	18	7955422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.05383861006025E-5	0.0
18	8069672	T	A	18	8069674	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.122622603896052	0.514
18	8069672	T	C	18	8069674	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.85135486382899E-4	0.04
18	8069672	T	G	18	8069674	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0127550939044768	0.278
18	8069673	T	A	18	8069675	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.411924771363484	0.574
18	8069673	T	C	18	8069675	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00855060898440207	0.214
18	8069673	T	G	18	8069675	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.245479623264178	0.526
18	8069674	T	A	18	8069676	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.950863013704196	0.66
18	8069674	T	C	18	8069676	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.14876757565149E-4	0.064
18	8069674	T	G	18	8069676	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.246536889179119	0.4
18	8069675	T	A	18	8069677	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.186421896572615	0.424
18	8069675	T	C	18	8069677	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.90010788647926E-5	0.01
18	8069675	T	G	18	8069677	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.111903510258156	0.456
18	8069676	C	A	18	8069678	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.17368623539045E-4	0.11
18	8069676	C	G	18	8069678	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.65073243659152E-4	0.064
18	8069676	C	T	18	8069678	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.2733062250351E-5	0.0
18	8069677	T	A	18	8069679	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.084102829937749	0.29
18	8069677	T	C	18	8069679	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.08641114606452E-4	0.01
18	8069677	T	G	18	8069679	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0914546390482389	0.282
18	8069678	A	C	18	8069680	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.78440211644475E-5	0.002
18	8069678	A	G	18	8069680	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.00909754260567E-4	0.01
18	8069678	A	T	18	8069680	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.59923549217222E-5	0.002
18	8069679	A	C	18	8069681	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00281510329078684	0.078
18	8069679	A	G	18	8069681	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998995799961106	0.888
18	8069679	A	T	18	8069681	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00153992203137125	0.068
18	8069680	A	C	18	8069682	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.93328564194101E-5	0.004
18	8069680	A	G	18	8069682	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.967835791709182	0.648
18	8069680	A	T	18	8069682	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.19857265149218E-4	0.03
18	8069681	T	A	18	8069683	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00673566389747045	0.152
18	8069681	T	C	18	8069683	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.07126479453776E-5	0.0
18	8069681	T	G	18	8069683	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.925773261963588	0.696
18	8069682	A	C	18	8069684	y	y	splicing	PTPRM(NM_002845:exon8:c.1133-2A>C;NM_001105244:exon8:c.1133-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1133-2A>C;ENST00000580170:exon8:c.1133-2A>C;ENST00000400060:exon8:c.1133-2A>C;ENST00000400053:exon8:c.947-2A>C;ENST00000578916:exon4:c.494-2A>C;ENST00000444013:exon4:c.494-2A>C)	.	.	0.999989917668626	0.928
18	8069682	A	G	18	8069684	y	y	splicing	PTPRM(NM_002845:exon8:c.1133-2A>G;NM_001105244:exon8:c.1133-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1133-2A>G;ENST00000580170:exon8:c.1133-2A>G;ENST00000400060:exon8:c.1133-2A>G;ENST00000400053:exon8:c.947-2A>G;ENST00000578916:exon4:c.494-2A>G;ENST00000444013:exon4:c.494-2A>G)	.	.	0.999989917668626	0.926
18	8069682	A	T	18	8069684	y	y	splicing	PTPRM(NM_002845:exon8:c.1133-2A>T;NM_001105244:exon8:c.1133-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1133-2A>T;ENST00000580170:exon8:c.1133-2A>T;ENST00000400060:exon8:c.1133-2A>T;ENST00000400053:exon8:c.947-2A>T;ENST00000578916:exon4:c.494-2A>T;ENST00000444013:exon4:c.494-2A>T)	.	.	0.999989917668626	0.928
18	8069683	G	A	18	8069685	y	y	splicing	PTPRM(NM_002845:exon8:c.1133-1G>A;NM_001105244:exon8:c.1133-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1133-1G>A;ENST00000580170:exon8:c.1133-1G>A;ENST00000400060:exon8:c.1133-1G>A;ENST00000400053:exon8:c.947-1G>A;ENST00000578916:exon4:c.494-1G>A;ENST00000444013:exon4:c.494-1G>A)	.	.	0.999981760802075	0.94
18	8069683	G	C	18	8069685	y	y	splicing	PTPRM(NM_002845:exon8:c.1133-1G>C;NM_001105244:exon8:c.1133-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1133-1G>C;ENST00000580170:exon8:c.1133-1G>C;ENST00000400060:exon8:c.1133-1G>C;ENST00000400053:exon8:c.947-1G>C;ENST00000578916:exon4:c.494-1G>C;ENST00000444013:exon4:c.494-1G>C)	.	.	0.999981760802075	0.94
18	8069683	G	T	18	8069685	y	y	splicing	PTPRM(NM_002845:exon8:c.1133-1G>T;NM_001105244:exon8:c.1133-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1133-1G>T;ENST00000580170:exon8:c.1133-1G>T;ENST00000400060:exon8:c.1133-1G>T;ENST00000400053:exon8:c.947-1G>T;ENST00000578916:exon4:c.494-1G>T;ENST00000444013:exon4:c.494-1G>T)	.	.	0.999981760802075	0.94
18	8069684	A	C	18	8069686	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.A1133C:p.D378A;PTPRM:NM_001105244:exon8:c.A1133C:p.D378A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.A1133C:p.D378A;ENSG00000173482:ENST00000578916:exon4:c.A494C:p.D165A;ENSG00000173482:ENST00000580170:exon8:c.A1133C:p.D378A;ENSG00000173482:ENST00000400060:exon8:c.A1133C:p.D378A;ENSG00000173482:ENST00000444013:exon4:c.A494C:p.D165A;ENSG00000173482:ENST00000400053:exon8:c.A947C:p.D316A;	0.158752314232757	0.58
18	8069684	A	G	18	8069686	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.A1133G:p.D378G;PTPRM:NM_001105244:exon8:c.A1133G:p.D378G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.A1133G:p.D378G;ENSG00000173482:ENST00000578916:exon4:c.A494G:p.D165G;ENSG00000173482:ENST00000580170:exon8:c.A1133G:p.D378G;ENSG00000173482:ENST00000400060:exon8:c.A1133G:p.D378G;ENSG00000173482:ENST00000444013:exon4:c.A494G:p.D165G;ENSG00000173482:ENST00000400053:exon8:c.A947G:p.D316G;	0.417109706294363	0.6
18	8069684	A	T	18	8069686	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.A1133T:p.D378V;PTPRM:NM_001105244:exon8:c.A1133T:p.D378V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.A1133T:p.D378V;ENSG00000173482:ENST00000578916:exon4:c.A494T:p.D165V;ENSG00000173482:ENST00000580170:exon8:c.A1133T:p.D378V;ENSG00000173482:ENST00000400060:exon8:c.A1133T:p.D378V;ENSG00000173482:ENST00000444013:exon4:c.A494T:p.D165V;ENSG00000173482:ENST00000400053:exon8:c.A947T:p.D316V;	0.402492823520376	0.454
18	8069685	T	A	18	8069687	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.T1134A:p.D378E;PTPRM:NM_001105244:exon8:c.T1134A:p.D378E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.T1134A:p.D378E;ENSG00000173482:ENST00000578916:exon4:c.T495A:p.D165E;ENSG00000173482:ENST00000580170:exon8:c.T1134A:p.D378E;ENSG00000173482:ENST00000400060:exon8:c.T1134A:p.D378E;ENSG00000173482:ENST00000444013:exon4:c.T495A:p.D165E;ENSG00000173482:ENST00000400053:exon8:c.T948A:p.D316E;	1.97638453705062E-4	0.036
18	8069685	T	C	18	8069687	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon8:c.T1134C:p.D378D;PTPRM:NM_001105244:exon8:c.T1134C:p.D378D;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.T1134C:p.D378D;ENSG00000173482:ENST00000578916:exon4:c.T495C:p.D165D;ENSG00000173482:ENST00000580170:exon8:c.T1134C:p.D378D;ENSG00000173482:ENST00000400060:exon8:c.T1134C:p.D378D;ENSG00000173482:ENST00000444013:exon4:c.T495C:p.D165D;ENSG00000173482:ENST00000400053:exon8:c.T948C:p.D316D;	0.00526629346862811	0.042
18	8069685	T	G	18	8069687	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.T1134G:p.D378E;PTPRM:NM_001105244:exon8:c.T1134G:p.D378E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.T1134G:p.D378E;ENSG00000173482:ENST00000578916:exon4:c.T495G:p.D165E;ENSG00000173482:ENST00000580170:exon8:c.T1134G:p.D378E;ENSG00000173482:ENST00000400060:exon8:c.T1134G:p.D378E;ENSG00000173482:ENST00000444013:exon4:c.T495G:p.D165E;ENSG00000173482:ENST00000400053:exon8:c.T948G:p.D316E;	4.12813942474864E-4	0.052
18	8069990	A	C	18	8069992	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.A1439C:p.D480A;PTPRM:NM_001105244:exon8:c.A1439C:p.D480A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.A1439C:p.D480A;ENSG00000173482:ENST00000580170:exon8:c.A1439C:p.D480A;ENSG00000173482:ENST00000400060:exon8:c.A1439C:p.D480A;ENSG00000173482:ENST00000444013:exon4:c.A800C:p.D267A;ENSG00000173482:ENST00000400053:exon8:c.A1253C:p.D418A;	0.670842815431942	0.794
18	8069990	A	G	18	8069992	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.A1439G:p.D480G;PTPRM:NM_001105244:exon8:c.A1439G:p.D480G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.A1439G:p.D480G;ENSG00000173482:ENST00000580170:exon8:c.A1439G:p.D480G;ENSG00000173482:ENST00000400060:exon8:c.A1439G:p.D480G;ENSG00000173482:ENST00000444013:exon4:c.A800G:p.D267G;ENSG00000173482:ENST00000400053:exon8:c.A1253G:p.D418G;	0.348063909470202	0.47
18	8069990	A	T	18	8069992	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.A1439T:p.D480V;PTPRM:NM_001105244:exon8:c.A1439T:p.D480V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.A1439T:p.D480V;ENSG00000173482:ENST00000580170:exon8:c.A1439T:p.D480V;ENSG00000173482:ENST00000400060:exon8:c.A1439T:p.D480V;ENSG00000173482:ENST00000444013:exon4:c.A800T:p.D267V;ENSG00000173482:ENST00000400053:exon8:c.A1253T:p.D418V;	0.987518570667662	0.584
18	8069991	C	A	18	8069993	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.C1440A:p.D480E;PTPRM:NM_001105244:exon8:c.C1440A:p.D480E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.C1440A:p.D480E;ENSG00000173482:ENST00000580170:exon8:c.C1440A:p.D480E;ENSG00000173482:ENST00000400060:exon8:c.C1440A:p.D480E;ENSG00000173482:ENST00000444013:exon4:c.C801A:p.D267E;ENSG00000173482:ENST00000400053:exon8:c.C1254A:p.D418E;	1.17222972996967E-4	0.246
18	8069991	C	G	18	8069993	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.C1440G:p.D480E;PTPRM:NM_001105244:exon8:c.C1440G:p.D480E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.C1440G:p.D480E;ENSG00000173482:ENST00000580170:exon8:c.C1440G:p.D480E;ENSG00000173482:ENST00000400060:exon8:c.C1440G:p.D480E;ENSG00000173482:ENST00000444013:exon4:c.C801G:p.D267E;ENSG00000173482:ENST00000400053:exon8:c.C1254G:p.D418E;	5.5612013331034E-4	0.188
18	8069991	C	T	18	8069993	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon8:c.C1440T:p.D480D;PTPRM:NM_001105244:exon8:c.C1440T:p.D480D;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.C1440T:p.D480D;ENSG00000173482:ENST00000580170:exon8:c.C1440T:p.D480D;ENSG00000173482:ENST00000400060:exon8:c.C1440T:p.D480D;ENSG00000173482:ENST00000444013:exon4:c.C801T:p.D267D;ENSG00000173482:ENST00000400053:exon8:c.C1254T:p.D418D;	2.8075326056172E-4	0.06
18	8069992	C	A	18	8069994	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.C1441A:p.L481I;PTPRM:NM_001105244:exon8:c.C1441A:p.L481I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.C1441A:p.L481I;ENSG00000173482:ENST00000580170:exon8:c.C1441A:p.L481I;ENSG00000173482:ENST00000400060:exon8:c.C1441A:p.L481I;ENSG00000173482:ENST00000444013:exon4:c.C802A:p.L268I;ENSG00000173482:ENST00000400053:exon8:c.C1255A:p.L419I;	2.9479291079964E-5	0.152
18	8069992	C	G	18	8069994	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.C1441G:p.L481V;PTPRM:NM_001105244:exon8:c.C1441G:p.L481V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.C1441G:p.L481V;ENSG00000173482:ENST00000580170:exon8:c.C1441G:p.L481V;ENSG00000173482:ENST00000400060:exon8:c.C1441G:p.L481V;ENSG00000173482:ENST00000444013:exon4:c.C802G:p.L268V;ENSG00000173482:ENST00000400053:exon8:c.C1255G:p.L419V;	2.74405137182871E-4	0.218
18	8069992	C	T	18	8069994	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon8:c.C1441T:p.L481F;PTPRM:NM_001105244:exon8:c.C1441T:p.L481F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon8:c.C1441T:p.L481F;ENSG00000173482:ENST00000580170:exon8:c.C1441T:p.L481F;ENSG00000173482:ENST00000400060:exon8:c.C1441T:p.L481F;ENSG00000173482:ENST00000444013:exon4:c.C802T:p.L268F;ENSG00000173482:ENST00000400053:exon8:c.C1255T:p.L419F;	9.40024789112076E-4	0.196
18	8069993	G	A	18	8069995	y	y	splicing	PTPRM(NM_002845:exon8:c.1441+1G>A;NM_001105244:exon8:c.1441+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1441+1G>A;ENST00000580170:exon8:c.1441+1G>A;ENST00000400060:exon8:c.1441+1G>A;ENST00000400053:exon8:c.1255+1G>A;ENST00000444013:exon4:c.802+1G>A)	.	.	0.999985532734767	0.936
18	8069993	G	C	18	8069995	y	y	splicing	PTPRM(NM_002845:exon8:c.1441+1G>C;NM_001105244:exon8:c.1441+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1441+1G>C;ENST00000580170:exon8:c.1441+1G>C;ENST00000400060:exon8:c.1441+1G>C;ENST00000400053:exon8:c.1255+1G>C;ENST00000444013:exon4:c.802+1G>C)	.	.	0.999985532734767	0.936
18	8069993	G	T	18	8069995	y	y	splicing	PTPRM(NM_002845:exon8:c.1441+1G>T;NM_001105244:exon8:c.1441+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1441+1G>T;ENST00000580170:exon8:c.1441+1G>T;ENST00000400060:exon8:c.1441+1G>T;ENST00000400053:exon8:c.1255+1G>T;ENST00000444013:exon4:c.802+1G>T)	.	.	0.999985532734767	0.936
18	8069994	T	A	18	8069996	y	y	splicing	PTPRM(NM_002845:exon8:c.1441+2T>A;NM_001105244:exon8:c.1441+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1441+2T>A;ENST00000580170:exon8:c.1441+2T>A;ENST00000400060:exon8:c.1441+2T>A;ENST00000400053:exon8:c.1255+2T>A;ENST00000444013:exon4:c.802+2T>A)	.	.	0.999988247793601	0.928
18	8069994	T	C	18	8069996	y	y	splicing	PTPRM(NM_002845:exon8:c.1441+2T>C;NM_001105244:exon8:c.1441+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1441+2T>C;ENST00000580170:exon8:c.1441+2T>C;ENST00000400060:exon8:c.1441+2T>C;ENST00000400053:exon8:c.1255+2T>C;ENST00000444013:exon4:c.802+2T>C)	.	.	0.999929727175276	0.866
18	8069994	T	G	18	8069996	y	y	splicing	PTPRM(NM_002845:exon8:c.1441+2T>G;NM_001105244:exon8:c.1441+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon8:c.1441+2T>G;ENST00000580170:exon8:c.1441+2T>G;ENST00000400060:exon8:c.1441+2T>G;ENST00000400053:exon8:c.1255+2T>G;ENST00000444013:exon4:c.802+2T>G)	.	.	0.999988247793601	0.928
18	8069995	G	A	18	8069997	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.06034765741284E-4	0.0
18	8069995	G	C	18	8069997	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.88046980347328	0.616
18	8069995	G	T	18	8069997	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992571882273996	0.56
18	8069996	A	C	18	8069998	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.9987490135115	0.93
18	8069996	A	G	18	8069998	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998640447078039	0.946
18	8069996	A	T	18	8069998	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999228705819701	0.932
18	8069997	G	A	18	8069999	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999946027806399	0.994
18	8069997	G	C	18	8069999	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999961279603752	0.984
18	8069997	G	T	18	8069999	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999946027806399	0.97
18	8069998	T	A	18	8070000	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.994971967050836	0.812
18	8069998	T	C	18	8070000	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998236616260142	0.984
18	8069998	T	G	18	8070000	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996586975588678	0.91
18	8069999	A	C	18	8070001	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.62516548845658E-4	0.004
18	8069999	A	G	18	8070001	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.72176595210466E-4	0.008
18	8069999	A	T	18	8070001	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.31622463475128E-5	0.002
18	8070000	C	A	18	8070002	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.3988884559269E-5	0.002
18	8070000	C	G	18	8070002	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.55597841741654E-5	0.0
18	8070000	C	T	18	8070002	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.70747085149089E-5	0.0
18	8076441	A	C	18	8076443	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.24965689460532E-5	0.002
18	8076441	A	G	18	8076443	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.51755179755757E-5	0.028
18	8076441	A	T	18	8076443	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.49536882736855E-5	0.0
18	8076442	C	A	18	8076444	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.55532754148403E-4	0.034
18	8076442	C	G	18	8076444	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998813625814999	0.894
18	8076442	C	T	18	8076444	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.54498780828094E-5	0.008
18	8076443	C	A	18	8076445	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00170607063507832	0.094
18	8076443	C	G	18	8076445	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.22365163519585E-4	0.038
18	8076443	C	T	18	8076445	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.35176480286442E-5	0.002
18	8076444	C	A	18	8076446	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.54217224696474E-4	0.078
18	8076444	C	G	18	8076446	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00467409821303126	0.11
18	8076444	C	T	18	8076446	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.44480006957952E-4	0.004
18	8076445	T	A	18	8076447	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00106100082338632	0.076
18	8076445	T	C	18	8076447	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.64779194162424E-5	0.004
18	8076445	T	G	18	8076447	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.75403100851524E-4	0.082
18	8076446	C	A	18	8076448	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.23914618705458E-4	0.02
18	8076446	C	G	18	8076448	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.35145612250319E-4	0.026
18	8076446	C	T	18	8076448	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.25988875839271E-5	0.0
18	8076447	C	A	18	8076449	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00247496700384257	0.18
18	8076447	C	G	18	8076449	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0011747712328293	0.1
18	8076447	C	T	18	8076449	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.24500912361786E-5	0.006
18	8076448	T	A	18	8076450	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.945739127465252	0.824
18	8076448	T	C	18	8076450	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00578583543812711	0.17
18	8076448	T	G	18	8076450	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.982950750797507	0.818
18	8076449	T	A	18	8076451	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.75273436908886E-4	0.006
18	8076449	T	C	18	8076451	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.49050209909537E-4	0.012
18	8076449	T	G	18	8076451	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00281204552238035	0.242
18	8076450	T	A	18	8076452	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.16631577739686	0.446
18	8076450	T	C	18	8076452	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.22978976827237E-5	0.006
18	8076450	T	G	18	8076452	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.986156498707793	0.67
18	8076451	A	C	18	8076453	y	y	splicing	PTPRM(NM_002845:exon9:c.1442-2A>C;NM_001105244:exon9:c.1442-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1442-2A>C;ENST00000580170:exon9:c.1442-2A>C;ENST00000400060:exon9:c.1442-2A>C;ENST00000400053:exon9:c.1256-2A>C;ENST00000444013:exon5:c.803-2A>C)	.	.	0.999988247793601	0.928
18	8076451	A	G	18	8076453	y	y	splicing	PTPRM(NM_002845:exon9:c.1442-2A>G;NM_001105244:exon9:c.1442-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1442-2A>G;ENST00000580170:exon9:c.1442-2A>G;ENST00000400060:exon9:c.1442-2A>G;ENST00000400053:exon9:c.1256-2A>G;ENST00000444013:exon5:c.803-2A>G)	.	.	0.999988247793601	0.928
18	8076451	A	T	18	8076453	y	y	splicing	PTPRM(NM_002845:exon9:c.1442-2A>T;NM_001105244:exon9:c.1442-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1442-2A>T;ENST00000580170:exon9:c.1442-2A>T;ENST00000400060:exon9:c.1442-2A>T;ENST00000400053:exon9:c.1256-2A>T;ENST00000444013:exon5:c.803-2A>T)	.	.	0.999988247793601	0.928
18	8076452	G	A	18	8076454	y	y	splicing	PTPRM(NM_002845:exon9:c.1442-1G>A;NM_001105244:exon9:c.1442-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1442-1G>A;ENST00000580170:exon9:c.1442-1G>A;ENST00000400060:exon9:c.1442-1G>A;ENST00000400053:exon9:c.1256-1G>A;ENST00000444013:exon5:c.803-1G>A)	.	.	0.999989263107695	0.93
18	8076452	G	C	18	8076454	y	y	splicing	PTPRM(NM_002845:exon9:c.1442-1G>C;NM_001105244:exon9:c.1442-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1442-1G>C;ENST00000580170:exon9:c.1442-1G>C;ENST00000400060:exon9:c.1442-1G>C;ENST00000400053:exon9:c.1256-1G>C;ENST00000444013:exon5:c.803-1G>C)	.	.	0.999989263107695	0.92
18	8076452	G	T	18	8076454	y	y	splicing	PTPRM(NM_002845:exon9:c.1442-1G>T;NM_001105244:exon9:c.1442-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1442-1G>T;ENST00000580170:exon9:c.1442-1G>T;ENST00000400060:exon9:c.1442-1G>T;ENST00000400053:exon9:c.1256-1G>T;ENST00000444013:exon5:c.803-1G>T)	.	.	0.999989263107695	0.93
18	8076453	T	A	18	8076455	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.T1442A:p.L481H;PTPRM:NM_001105244:exon9:c.T1442A:p.L481H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.T1442A:p.L481H;ENSG00000173482:ENST00000580170:exon9:c.T1442A:p.L481H;ENSG00000173482:ENST00000400060:exon9:c.T1442A:p.L481H;ENSG00000173482:ENST00000444013:exon5:c.T803A:p.L268H;ENSG00000173482:ENST00000400053:exon9:c.T1256A:p.L419H;	0.565202910852926	0.6
18	8076453	T	C	18	8076455	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.T1442C:p.L481P;PTPRM:NM_001105244:exon9:c.T1442C:p.L481P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.T1442C:p.L481P;ENSG00000173482:ENST00000580170:exon9:c.T1442C:p.L481P;ENSG00000173482:ENST00000400060:exon9:c.T1442C:p.L481P;ENSG00000173482:ENST00000444013:exon5:c.T803C:p.L268P;ENSG00000173482:ENST00000400053:exon9:c.T1256C:p.L419P;	0.761217531290081	0.598
18	8076453	T	G	18	8076455	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.T1442G:p.L481R;PTPRM:NM_001105244:exon9:c.T1442G:p.L481R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.T1442G:p.L481R;ENSG00000173482:ENST00000580170:exon9:c.T1442G:p.L481R;ENSG00000173482:ENST00000400060:exon9:c.T1442G:p.L481R;ENSG00000173482:ENST00000444013:exon5:c.T803G:p.L268R;ENSG00000173482:ENST00000400053:exon9:c.T1256G:p.L419R;	0.657328962611931	0.466
18	8076454	C	A	18	8076456	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon9:c.C1443A:p.L481L;PTPRM:NM_001105244:exon9:c.C1443A:p.L481L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.C1443A:p.L481L;ENSG00000173482:ENST00000580170:exon9:c.C1443A:p.L481L;ENSG00000173482:ENST00000400060:exon9:c.C1443A:p.L481L;ENSG00000173482:ENST00000444013:exon5:c.C804A:p.L268L;ENSG00000173482:ENST00000400053:exon9:c.C1257A:p.L419L;	9.70871692081529E-5	0.0
18	8076454	C	G	18	8076456	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon9:c.C1443G:p.L481L;PTPRM:NM_001105244:exon9:c.C1443G:p.L481L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.C1443G:p.L481L;ENSG00000173482:ENST00000580170:exon9:c.C1443G:p.L481L;ENSG00000173482:ENST00000400060:exon9:c.C1443G:p.L481L;ENSG00000173482:ENST00000444013:exon5:c.C804G:p.L268L;ENSG00000173482:ENST00000400053:exon9:c.C1257G:p.L419L;	3.84460200067441E-5	0.0
18	8076454	C	T	18	8076456	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon9:c.C1443T:p.L481L;PTPRM:NM_001105244:exon9:c.C1443T:p.L481L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.C1443T:p.L481L;ENSG00000173482:ENST00000580170:exon9:c.C1443T:p.L481L;ENSG00000173482:ENST00000400060:exon9:c.C1443T:p.L481L;ENSG00000173482:ENST00000444013:exon5:c.C804T:p.L268L;ENSG00000173482:ENST00000400053:exon9:c.C1257T:p.L419L;	6.26626278891131E-5	0.0
18	8076560	G	A	18	8076562	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.G1549A:p.E517K;PTPRM:NM_001105244:exon9:c.G1549A:p.E517K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.G1549A:p.E517K;ENSG00000173482:ENST00000580170:exon9:c.G1549A:p.E517K;ENSG00000173482:ENST00000400060:exon9:c.G1549A:p.E517K;ENSG00000173482:ENST00000444013:exon5:c.G910A:p.E304K;ENSG00000173482:ENST00000400053:exon9:c.G1363A:p.E455K;	0.9698242871012	0.822
18	8076560	G	C	18	8076562	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.G1549C:p.E517Q;PTPRM:NM_001105244:exon9:c.G1549C:p.E517Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.G1549C:p.E517Q;ENSG00000173482:ENST00000580170:exon9:c.G1549C:p.E517Q;ENSG00000173482:ENST00000400060:exon9:c.G1549C:p.E517Q;ENSG00000173482:ENST00000444013:exon5:c.G910C:p.E304Q;ENSG00000173482:ENST00000400053:exon9:c.G1363C:p.E455Q;	0.971441742560114	0.79
18	8076560	G	T	18	8076562	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon9:c.G1549T:p.E517X;PTPRM:NM_001105244:exon9:c.G1549T:p.E517X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon9:c.G1549T:p.E517X;ENSG00000173482:ENST00000580170:exon9:c.G1549T:p.E517X;ENSG00000173482:ENST00000400060:exon9:c.G1549T:p.E517X;ENSG00000173482:ENST00000444013:exon5:c.G910T:p.E304X;ENSG00000173482:ENST00000400053:exon9:c.G1363T:p.E455X;	0.998686351923403	0.77
18	8076561	A	C	18	8076563	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.A1550C:p.E517A;PTPRM:NM_001105244:exon9:c.A1550C:p.E517A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.A1550C:p.E517A;ENSG00000173482:ENST00000580170:exon9:c.A1550C:p.E517A;ENSG00000173482:ENST00000400060:exon9:c.A1550C:p.E517A;ENSG00000173482:ENST00000444013:exon5:c.A911C:p.E304A;ENSG00000173482:ENST00000400053:exon9:c.A1364C:p.E455A;	0.999916215206428	0.998
18	8076561	A	G	18	8076563	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.A1550G:p.E517G;PTPRM:NM_001105244:exon9:c.A1550G:p.E517G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.A1550G:p.E517G;ENSG00000173482:ENST00000580170:exon9:c.A1550G:p.E517G;ENSG00000173482:ENST00000400060:exon9:c.A1550G:p.E517G;ENSG00000173482:ENST00000444013:exon5:c.A911G:p.E304G;ENSG00000173482:ENST00000400053:exon9:c.A1364G:p.E455G;	0.999932704505772	1.0
18	8076561	A	T	18	8076563	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.A1550T:p.E517V;PTPRM:NM_001105244:exon9:c.A1550T:p.E517V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.A1550T:p.E517V;ENSG00000173482:ENST00000580170:exon9:c.A1550T:p.E517V;ENSG00000173482:ENST00000400060:exon9:c.A1550T:p.E517V;ENSG00000173482:ENST00000444013:exon5:c.A911T:p.E304V;ENSG00000173482:ENST00000400053:exon9:c.A1364T:p.E455V;	0.999932704505772	0.998
18	8076562	G	A	18	8076564	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon9:c.G1551A:p.E517E;PTPRM:NM_001105244:exon9:c.G1551A:p.E517E;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.G1551A:p.E517E;ENSG00000173482:ENST00000580170:exon9:c.G1551A:p.E517E;ENSG00000173482:ENST00000400060:exon9:c.G1551A:p.E517E;ENSG00000173482:ENST00000444013:exon5:c.G912A:p.E304E;ENSG00000173482:ENST00000400053:exon9:c.G1365A:p.E455E;	0.999991289673964	0.986
18	8076562	G	C	18	8076564	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.G1551C:p.E517D;PTPRM:NM_001105244:exon9:c.G1551C:p.E517D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.G1551C:p.E517D;ENSG00000173482:ENST00000580170:exon9:c.G1551C:p.E517D;ENSG00000173482:ENST00000400060:exon9:c.G1551C:p.E517D;ENSG00000173482:ENST00000444013:exon5:c.G912C:p.E304D;ENSG00000173482:ENST00000400053:exon9:c.G1365C:p.E455D;	0.999997001934645	0.998
18	8076562	G	T	18	8076564	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon9:c.G1551T:p.E517D;PTPRM:NM_001105244:exon9:c.G1551T:p.E517D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon9:c.G1551T:p.E517D;ENSG00000173482:ENST00000580170:exon9:c.G1551T:p.E517D;ENSG00000173482:ENST00000400060:exon9:c.G1551T:p.E517D;ENSG00000173482:ENST00000444013:exon5:c.G912T:p.E304D;ENSG00000173482:ENST00000400053:exon9:c.G1365T:p.E455D;	0.999992085169995	0.974
18	8076563	G	A	18	8076565	y	y	splicing	PTPRM(NM_002845:exon9:c.1551+1G>A;NM_001105244:exon9:c.1551+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1551+1G>A;ENST00000580170:exon9:c.1551+1G>A;ENST00000400060:exon9:c.1551+1G>A;ENST00000400053:exon9:c.1365+1G>A;ENST00000444013:exon5:c.912+1G>A)	.	.	0.999990361384395	0.928
18	8076563	G	C	18	8076565	y	y	splicing	PTPRM(NM_002845:exon9:c.1551+1G>C;NM_001105244:exon9:c.1551+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1551+1G>C;ENST00000580170:exon9:c.1551+1G>C;ENST00000400060:exon9:c.1551+1G>C;ENST00000400053:exon9:c.1365+1G>C;ENST00000444013:exon5:c.912+1G>C)	.	.	0.999990361384395	0.928
18	8076563	G	T	18	8076565	y	y	splicing	PTPRM(NM_002845:exon9:c.1551+1G>T;NM_001105244:exon9:c.1551+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1551+1G>T;ENST00000580170:exon9:c.1551+1G>T;ENST00000400060:exon9:c.1551+1G>T;ENST00000400053:exon9:c.1365+1G>T;ENST00000444013:exon5:c.912+1G>T)	.	.	0.999990361384395	0.928
18	8076564	T	A	18	8076566	y	y	splicing	PTPRM(NM_002845:exon9:c.1551+2T>A;NM_001105244:exon9:c.1551+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1551+2T>A;ENST00000580170:exon9:c.1551+2T>A;ENST00000400060:exon9:c.1551+2T>A;ENST00000400053:exon9:c.1365+2T>A;ENST00000444013:exon5:c.912+2T>A)	.	.	0.999988247793601	0.92
18	8076564	T	C	18	8076566	y	y	splicing	PTPRM(NM_002845:exon9:c.1551+2T>C;NM_001105244:exon9:c.1551+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1551+2T>C;ENST00000580170:exon9:c.1551+2T>C;ENST00000400060:exon9:c.1551+2T>C;ENST00000400053:exon9:c.1365+2T>C;ENST00000444013:exon5:c.912+2T>C)	.	.	0.99340600729494	0.698
18	8076564	T	G	18	8076566	y	y	splicing	PTPRM(NM_002845:exon9:c.1551+2T>G;NM_001105244:exon9:c.1551+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon9:c.1551+2T>G;ENST00000580170:exon9:c.1551+2T>G;ENST00000400060:exon9:c.1551+2T>G;ENST00000400053:exon9:c.1365+2T>G;ENST00000444013:exon5:c.912+2T>G)	.	.	0.999988247793601	0.92
18	8076565	A	C	18	8076567	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999869785021862	0.978
18	8076565	A	G	18	8076567	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999433616034309	0.984
18	8076565	A	T	18	8076567	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999885139439939	0.978
18	8076566	A	C	18	8076568	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.539717627358973	0.444
18	8076566	A	G	18	8076568	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.988731885648263	0.54
18	8076566	A	T	18	8076568	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.5394412434179	0.408
18	8076567	T	A	18	8076569	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.35062986441412E-4	0.008
18	8076567	T	C	18	8076569	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.02250970249506E-4	0.002
18	8076567	T	G	18	8076569	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.46832808700935E-4	0.084
18	8076568	A	C	18	8076570	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.10233892264468E-5	0.03
18	8076568	A	G	18	8076570	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.51624319142716E-5	0.0
18	8076568	A	T	18	8076570	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.33684777350849E-5	0.0
18	8076569	T	A	18	8076571	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.58822666340836E-5	0.0
18	8076569	T	C	18	8076571	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.58822666340836E-5	0.0
18	8076569	T	G	18	8076571	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.58822666340836E-5	0.0
18	8076570	A	C	18	8076572	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.20119782638676E-4	0.006
18	8076570	A	G	18	8076572	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00118586967828141	0.006
18	8076570	A	T	18	8076572	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.65095904914198E-4	0.006
18	8085657	A	C	18	8085659	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.12043854685718E-5	0.0
18	8085657	A	G	18	8085659	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.50372234353654E-5	0.012
18	8085657	A	T	18	8085659	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.03272425293411E-5	0.0
18	8085658	T	A	18	8085660	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0165762687869873	0.35
18	8085658	T	C	18	8085660	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00624808637107827	0.094
18	8085658	T	G	18	8085660	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999500542041119	0.874
18	8085659	T	A	18	8085661	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.884741532160605	0.538
18	8085659	T	C	18	8085661	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0365533293498899	0.312
18	8085659	T	G	18	8085661	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.431521186789258	0.5
18	8085660	C	A	18	8085662	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00914341529290919	0.088
18	8085660	C	G	18	8085662	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00666610744043603	0.048
18	8085660	C	T	18	8085662	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00127578690895401	0.114
18	8085661	T	A	18	8085663	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00826731293110993	0.224
18	8085661	T	C	18	8085663	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.28814930901527E-4	0.004
18	8085661	T	G	18	8085663	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.011650881883948	0.096
18	8085662	T	A	18	8085664	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0051048394599095	0.076
18	8085662	T	C	18	8085664	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.9139592231666E-4	0.01
18	8085662	T	G	18	8085664	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00271359986361931	0.082
18	8085663	T	A	18	8085665	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0247423270118938	0.12
18	8085663	T	C	18	8085665	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.51108922369098E-4	0.026
18	8085663	T	G	18	8085665	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00600162820873407	0.112
18	8085664	T	A	18	8085666	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999817154350095	0.914
18	8085664	T	C	18	8085666	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0430127536515152	0.146
18	8085664	T	G	18	8085666	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.930806772738923	0.66
18	8085665	G	A	18	8085667	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00250655348106137	0.01
18	8085665	G	C	18	8085667	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.68954844151971E-4	0.008
18	8085665	G	T	18	8085667	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.77254063764527E-4	0.028
18	8085666	C	A	18	8085668	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999249037107641	0.802
18	8085666	C	G	18	8085668	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999938770439867	0.95
18	8085666	C	T	18	8085668	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.140744361809689	0.138
18	8085667	A	C	18	8085669	y	y	splicing	PTPRM(NM_002845:exon10:c.1552-2A>C;NM_001105244:exon10:c.1552-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1552-2A>C;ENST00000580170:exon10:c.1552-2A>C;ENST00000400060:exon10:c.1552-2A>C;ENST00000400053:exon10:c.1366-2A>C;ENST00000444013:exon6:c.913-2A>C)	.	.	0.999988247793601	0.93
18	8085667	A	G	18	8085669	y	y	splicing	PTPRM(NM_002845:exon10:c.1552-2A>G;NM_001105244:exon10:c.1552-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1552-2A>G;ENST00000580170:exon10:c.1552-2A>G;ENST00000400060:exon10:c.1552-2A>G;ENST00000400053:exon10:c.1366-2A>G;ENST00000444013:exon6:c.913-2A>G)	.	.	0.999988247793601	0.93
18	8085667	A	T	18	8085669	y	y	splicing	PTPRM(NM_002845:exon10:c.1552-2A>T;NM_001105244:exon10:c.1552-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1552-2A>T;ENST00000580170:exon10:c.1552-2A>T;ENST00000400060:exon10:c.1552-2A>T;ENST00000400053:exon10:c.1366-2A>T;ENST00000444013:exon6:c.913-2A>T)	.	.	0.999988247793601	0.93
18	8085668	G	A	18	8085670	y	y	splicing	PTPRM(NM_002845:exon10:c.1552-1G>A;NM_001105244:exon10:c.1552-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1552-1G>A;ENST00000580170:exon10:c.1552-1G>A;ENST00000400060:exon10:c.1552-1G>A;ENST00000400053:exon10:c.1366-1G>A;ENST00000444013:exon6:c.913-1G>A)	.	.	0.999990361384395	0.936
18	8085668	G	C	18	8085670	y	y	splicing	PTPRM(NM_002845:exon10:c.1552-1G>C;NM_001105244:exon10:c.1552-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1552-1G>C;ENST00000580170:exon10:c.1552-1G>C;ENST00000400060:exon10:c.1552-1G>C;ENST00000400053:exon10:c.1366-1G>C;ENST00000444013:exon6:c.913-1G>C)	.	.	0.999990361384395	0.936
18	8085668	G	T	18	8085670	y	y	splicing	PTPRM(NM_002845:exon10:c.1552-1G>T;NM_001105244:exon10:c.1552-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1552-1G>T;ENST00000580170:exon10:c.1552-1G>T;ENST00000400060:exon10:c.1552-1G>T;ENST00000400053:exon10:c.1366-1G>T;ENST00000444013:exon6:c.913-1G>T)	.	.	0.999990361384395	0.936
18	8085669	A	C	18	8085671	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.A1552C:p.I518L;PTPRM:NM_001105244:exon10:c.A1552C:p.I518L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.A1552C:p.I518L;ENSG00000173482:ENST00000580170:exon10:c.A1552C:p.I518L;ENSG00000173482:ENST00000400060:exon10:c.A1552C:p.I518L;ENSG00000173482:ENST00000444013:exon6:c.A913C:p.I305L;ENSG00000173482:ENST00000400053:exon10:c.A1366C:p.I456L;	0.446312325565092	0.698
18	8085669	A	G	18	8085671	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.A1552G:p.I518V;PTPRM:NM_001105244:exon10:c.A1552G:p.I518V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.A1552G:p.I518V;ENSG00000173482:ENST00000580170:exon10:c.A1552G:p.I518V;ENSG00000173482:ENST00000400060:exon10:c.A1552G:p.I518V;ENSG00000173482:ENST00000444013:exon6:c.A913G:p.I305V;ENSG00000173482:ENST00000400053:exon10:c.A1366G:p.I456V;	0.735140607834191	0.666
18	8085669	A	T	18	8085671	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.A1552T:p.I518F;PTPRM:NM_001105244:exon10:c.A1552T:p.I518F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.A1552T:p.I518F;ENSG00000173482:ENST00000580170:exon10:c.A1552T:p.I518F;ENSG00000173482:ENST00000400060:exon10:c.A1552T:p.I518F;ENSG00000173482:ENST00000444013:exon6:c.A913T:p.I305F;ENSG00000173482:ENST00000400053:exon10:c.A1366T:p.I456F;	0.502543218662977	0.628
18	8085670	T	A	18	8085672	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.T1553A:p.I518N;PTPRM:NM_001105244:exon10:c.T1553A:p.I518N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.T1553A:p.I518N;ENSG00000173482:ENST00000580170:exon10:c.T1553A:p.I518N;ENSG00000173482:ENST00000400060:exon10:c.T1553A:p.I518N;ENSG00000173482:ENST00000444013:exon6:c.T914A:p.I305N;ENSG00000173482:ENST00000400053:exon10:c.T1367A:p.I456N;	0.782059113471238	0.55
18	8085670	T	C	18	8085672	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.T1553C:p.I518T;PTPRM:NM_001105244:exon10:c.T1553C:p.I518T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.T1553C:p.I518T;ENSG00000173482:ENST00000580170:exon10:c.T1553C:p.I518T;ENSG00000173482:ENST00000400060:exon10:c.T1553C:p.I518T;ENSG00000173482:ENST00000444013:exon6:c.T914C:p.I305T;ENSG00000173482:ENST00000400053:exon10:c.T1367C:p.I456T;	0.338839889622719	0.582
18	8085670	T	G	18	8085672	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.T1553G:p.I518S;PTPRM:NM_001105244:exon10:c.T1553G:p.I518S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.T1553G:p.I518S;ENSG00000173482:ENST00000580170:exon10:c.T1553G:p.I518S;ENSG00000173482:ENST00000400060:exon10:c.T1553G:p.I518S;ENSG00000173482:ENST00000444013:exon6:c.T914G:p.I305S;ENSG00000173482:ENST00000400053:exon10:c.T1367G:p.I456S;	0.726391743884981	0.606
18	8085868	C	A	18	8085870	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon10:c.C1751A:p.S584X;PTPRM:NM_001105244:exon10:c.C1751A:p.S584X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon10:c.C1751A:p.S584X;ENSG00000173482:ENST00000580170:exon10:c.C1751A:p.S584X;ENSG00000173482:ENST00000400060:exon10:c.C1751A:p.S584X;ENSG00000173482:ENST00000444013:exon6:c.C1112A:p.S371X;ENSG00000173482:ENST00000400053:exon10:c.C1565A:p.S522X;	0.972802636235701	0.832
18	8085868	C	G	18	8085870	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon10:c.C1751G:p.S584X;PTPRM:NM_001105244:exon10:c.C1751G:p.S584X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon10:c.C1751G:p.S584X;ENSG00000173482:ENST00000580170:exon10:c.C1751G:p.S584X;ENSG00000173482:ENST00000400060:exon10:c.C1751G:p.S584X;ENSG00000173482:ENST00000444013:exon6:c.C1112G:p.S371X;ENSG00000173482:ENST00000400053:exon10:c.C1565G:p.S522X;	0.9636228752451	0.734
18	8085868	C	T	18	8085870	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.C1751T:p.S584L;PTPRM:NM_001105244:exon10:c.C1751T:p.S584L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.C1751T:p.S584L;ENSG00000173482:ENST00000580170:exon10:c.C1751T:p.S584L;ENSG00000173482:ENST00000400060:exon10:c.C1751T:p.S584L;ENSG00000173482:ENST00000444013:exon6:c.C1112T:p.S371L;ENSG00000173482:ENST00000400053:exon10:c.C1565T:p.S522L;	0.999915806170064	0.984
18	8085869	A	C	18	8085871	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon10:c.A1752C:p.S584S;PTPRM:NM_001105244:exon10:c.A1752C:p.S584S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.A1752C:p.S584S;ENSG00000173482:ENST00000580170:exon10:c.A1752C:p.S584S;ENSG00000173482:ENST00000400060:exon10:c.A1752C:p.S584S;ENSG00000173482:ENST00000444013:exon6:c.A1113C:p.S371S;ENSG00000173482:ENST00000400053:exon10:c.A1566C:p.S522S;	0.999863771385783	0.998
18	8085869	A	G	18	8085871	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon10:c.A1752G:p.S584S;PTPRM:NM_001105244:exon10:c.A1752G:p.S584S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.A1752G:p.S584S;ENSG00000173482:ENST00000580170:exon10:c.A1752G:p.S584S;ENSG00000173482:ENST00000400060:exon10:c.A1752G:p.S584S;ENSG00000173482:ENST00000444013:exon6:c.A1113G:p.S371S;ENSG00000173482:ENST00000400053:exon10:c.A1566G:p.S522S;	0.999806906407717	0.994
18	8085869	A	T	18	8085871	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon10:c.A1752T:p.S584S;PTPRM:NM_001105244:exon10:c.A1752T:p.S584S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.A1752T:p.S584S;ENSG00000173482:ENST00000580170:exon10:c.A1752T:p.S584S;ENSG00000173482:ENST00000400060:exon10:c.A1752T:p.S584S;ENSG00000173482:ENST00000444013:exon6:c.A1113T:p.S371S;ENSG00000173482:ENST00000400053:exon10:c.A1566T:p.S522S;	0.999948602610696	0.992
18	8085870	G	A	18	8085872	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.G1753A:p.A585T;PTPRM:NM_001105244:exon10:c.G1753A:p.A585T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.G1753A:p.A585T;ENSG00000173482:ENST00000580170:exon10:c.G1753A:p.A585T;ENSG00000173482:ENST00000400060:exon10:c.G1753A:p.A585T;ENSG00000173482:ENST00000444013:exon6:c.G1114A:p.A372T;ENSG00000173482:ENST00000400053:exon10:c.G1567A:p.A523T;	0.999992042933719	0.996
18	8085870	G	C	18	8085872	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.G1753C:p.A585P;PTPRM:NM_001105244:exon10:c.G1753C:p.A585P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.G1753C:p.A585P;ENSG00000173482:ENST00000580170:exon10:c.G1753C:p.A585P;ENSG00000173482:ENST00000400060:exon10:c.G1753C:p.A585P;ENSG00000173482:ENST00000444013:exon6:c.G1114C:p.A372P;ENSG00000173482:ENST00000400053:exon10:c.G1567C:p.A523P;	0.999997360428448	1.0
18	8085870	G	T	18	8085872	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon10:c.G1753T:p.A585S;PTPRM:NM_001105244:exon10:c.G1753T:p.A585S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon10:c.G1753T:p.A585S;ENSG00000173482:ENST00000580170:exon10:c.G1753T:p.A585S;ENSG00000173482:ENST00000400060:exon10:c.G1753T:p.A585S;ENSG00000173482:ENST00000444013:exon6:c.G1114T:p.A372S;ENSG00000173482:ENST00000400053:exon10:c.G1567T:p.A523S;	0.999994342005323	0.974
18	8085871	G	A	18	8085873	y	y	splicing	PTPRM(NM_002845:exon10:c.1753+1G>A;NM_001105244:exon10:c.1753+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1753+1G>A;ENST00000580170:exon10:c.1753+1G>A;ENST00000400060:exon10:c.1753+1G>A;ENST00000400053:exon10:c.1567+1G>A;ENST00000444013:exon6:c.1114+1G>A;ENST00000583289:exon1:c.171+1G>A)	.	.	0.999990361384395	0.938
18	8085871	G	C	18	8085873	y	y	splicing	PTPRM(NM_002845:exon10:c.1753+1G>C;NM_001105244:exon10:c.1753+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1753+1G>C;ENST00000580170:exon10:c.1753+1G>C;ENST00000400060:exon10:c.1753+1G>C;ENST00000400053:exon10:c.1567+1G>C;ENST00000444013:exon6:c.1114+1G>C;ENST00000583289:exon1:c.171+1G>C)	.	.	0.999990361384395	0.938
18	8085871	G	T	18	8085873	y	y	splicing	PTPRM(NM_002845:exon10:c.1753+1G>T;NM_001105244:exon10:c.1753+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1753+1G>T;ENST00000580170:exon10:c.1753+1G>T;ENST00000400060:exon10:c.1753+1G>T;ENST00000400053:exon10:c.1567+1G>T;ENST00000444013:exon6:c.1114+1G>T;ENST00000583289:exon1:c.171+1G>T)	.	.	0.999990361384395	0.938
18	8085872	T	A	18	8085874	y	y	splicing	PTPRM(NM_002845:exon10:c.1753+2T>A;NM_001105244:exon10:c.1753+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1753+2T>A;ENST00000580170:exon10:c.1753+2T>A;ENST00000400060:exon10:c.1753+2T>A;ENST00000400053:exon10:c.1567+2T>A;ENST00000444013:exon6:c.1114+2T>A;ENST00000583289:exon1:c.171+2T>A)	.	.	0.999988247793601	0.93
18	8085872	T	C	18	8085874	y	y	splicing	PTPRM(NM_002845:exon10:c.1753+2T>C;NM_001105244:exon10:c.1753+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1753+2T>C;ENST00000580170:exon10:c.1753+2T>C;ENST00000400060:exon10:c.1753+2T>C;ENST00000400053:exon10:c.1567+2T>C;ENST00000444013:exon6:c.1114+2T>C;ENST00000583289:exon1:c.171+2T>C)	.	.	0.995320650369382	0.684
18	8085872	T	G	18	8085874	y	y	splicing	PTPRM(NM_002845:exon10:c.1753+2T>G;NM_001105244:exon10:c.1753+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon10:c.1753+2T>G;ENST00000580170:exon10:c.1753+2T>G;ENST00000400060:exon10:c.1753+2T>G;ENST00000400053:exon10:c.1567+2T>G;ENST00000444013:exon6:c.1114+2T>G;ENST00000583289:exon1:c.171+2T>G)	.	.	0.999988247793601	0.93
18	8085873	A	C	18	8085875	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99988325018582	0.932
18	8085873	A	G	18	8085875	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998314848499325	0.98
18	8085873	A	T	18	8085875	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999897017010325	0.89
18	8085874	C	A	18	8085876	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.38929903727877E-5	0.116
18	8085874	C	G	18	8085876	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.35233889063753E-5	0.25
18	8085874	C	T	18	8085876	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.64550686096432E-5	0.17
18	8085875	T	A	18	8085877	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.43963838525388E-4	0.03
18	8085875	T	C	18	8085877	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.23002141562728E-4	0.038
18	8085875	T	G	18	8085877	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.30975222763826E-4	0.058
18	8085876	C	A	18	8085878	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.85440922166629E-5	0.006
18	8085876	C	G	18	8085878	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.08698215536707E-5	0.008
18	8085876	C	T	18	8085878	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.15238735477052E-5	0.016
18	8085877	T	A	18	8085879	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.30086411387712E-4	0.008
18	8085877	T	C	18	8085879	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.87825125531106E-4	0.006
18	8085877	T	G	18	8085879	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.67262792041983E-5	0.002
18	8085878	A	C	18	8085880	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.10898998573858E-4	0.0
18	8085878	A	G	18	8085880	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.62062270558347E-5	0.0
18	8085878	A	T	18	8085880	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.10898998573858E-4	0.0
18	8088735	C	A	18	8088737	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.95945632450353E-4	0.076
18	8088735	C	G	18	8088737	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.80581890755661E-4	0.054
18	8088735	C	T	18	8088737	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.37700862381713E-5	0.0
18	8088736	T	A	18	8088738	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0109956321454993	0.232
18	8088736	T	C	18	8088738	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.17381544763406E-4	0.064
18	8088736	T	G	18	8088738	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00385879901724857	0.186
18	8088737	T	A	18	8088739	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00477277890741649	0.108
18	8088737	T	C	18	8088739	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.78400687517086E-4	0.006
18	8088737	T	G	18	8088739	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00119012148759918	0.082
18	8088738	T	A	18	8088740	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00627132468813612	0.124
18	8088738	T	C	18	8088740	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.78743793352852E-4	0.102
18	8088738	T	G	18	8088740	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00444887172891639	0.098
18	8088739	T	A	18	8088741	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00182085456546976	0.078
18	8088739	T	C	18	8088741	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.1274701814233E-5	0.0
18	8088739	T	G	18	8088741	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00161976866394491	0.102
18	8088740	T	A	18	8088742	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.94264740324887E-4	0.074
18	8088740	T	C	18	8088742	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.66603045156853E-5	0.002
18	8088740	T	G	18	8088742	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.44642743402698E-4	0.044
18	8088741	C	A	18	8088743	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0138069619063885	0.218
18	8088741	C	G	18	8088743	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0128244336870419	0.246
18	8088741	C	T	18	8088743	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.22078859181612E-5	0.05
18	8088742	C	A	18	8088744	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.7240554264358E-4	0.06
18	8088742	C	G	18	8088744	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00219663327749606	0.198
18	8088742	C	T	18	8088744	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.85077516493416E-5	0.0
18	8088743	C	A	18	8088745	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.24570947120811E-5	0.008
18	8088743	C	G	18	8088745	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.84006345254837E-5	0.01
18	8088743	C	T	18	8088745	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.69764074400765E-5	0.002
18	8088744	C	A	18	8088746	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.976434967541832	0.704
18	8088744	C	G	18	8088746	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999777720354604	0.944
18	8088744	C	T	18	8088746	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.86564826635139E-4	0.014
18	8088745	A	C	18	8088747	y	y	splicing	PTPRM(NM_002845:exon11:c.1754-2A>C;NM_001105244:exon11:c.1754-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1754-2A>C;ENST00000580170:exon11:c.1754-2A>C;ENST00000400060:exon11:c.1754-2A>C;ENST00000400053:exon11:c.1568-2A>C;ENST00000444013:exon7:c.1115-2A>C;ENST00000583289:exon2:c.172-2A>C)	.	.	0.999971317418422	0.896
18	8088745	A	G	18	8088747	y	y	splicing	PTPRM(NM_002845:exon11:c.1754-2A>G;NM_001105244:exon11:c.1754-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1754-2A>G;ENST00000580170:exon11:c.1754-2A>G;ENST00000400060:exon11:c.1754-2A>G;ENST00000400053:exon11:c.1568-2A>G;ENST00000444013:exon7:c.1115-2A>G;ENST00000583289:exon2:c.172-2A>G)	.	.	0.999971317418422	0.896
18	8088745	A	T	18	8088747	y	y	splicing	PTPRM(NM_002845:exon11:c.1754-2A>T;NM_001105244:exon11:c.1754-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1754-2A>T;ENST00000580170:exon11:c.1754-2A>T;ENST00000400060:exon11:c.1754-2A>T;ENST00000400053:exon11:c.1568-2A>T;ENST00000444013:exon7:c.1115-2A>T;ENST00000583289:exon2:c.172-2A>T)	.	.	0.999971317418422	0.898
18	8088746	G	A	18	8088748	y	y	splicing	PTPRM(NM_002845:exon11:c.1754-1G>A;NM_001105244:exon11:c.1754-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1754-1G>A;ENST00000580170:exon11:c.1754-1G>A;ENST00000400060:exon11:c.1754-1G>A;ENST00000400053:exon11:c.1568-1G>A;ENST00000444013:exon7:c.1115-1G>A;ENST00000583289:exon2:c.172-1G>A)	.	.	0.999971209564868	0.936
18	8088746	G	C	18	8088748	y	y	splicing	PTPRM(NM_002845:exon11:c.1754-1G>C;NM_001105244:exon11:c.1754-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1754-1G>C;ENST00000580170:exon11:c.1754-1G>C;ENST00000400060:exon11:c.1754-1G>C;ENST00000400053:exon11:c.1568-1G>C;ENST00000444013:exon7:c.1115-1G>C;ENST00000583289:exon2:c.172-1G>C)	.	.	0.999960597114489	0.908
18	8088746	G	T	18	8088748	y	y	splicing	PTPRM(NM_002845:exon11:c.1754-1G>T;NM_001105244:exon11:c.1754-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1754-1G>T;ENST00000580170:exon11:c.1754-1G>T;ENST00000400060:exon11:c.1754-1G>T;ENST00000400053:exon11:c.1568-1G>T;ENST00000444013:exon7:c.1115-1G>T;ENST00000583289:exon2:c.172-1G>T)	.	.	0.999970205305079	0.92
18	8088747	C	A	18	8088749	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.C1754A:p.A585E;PTPRM:NM_001105244:exon11:c.C1754A:p.A585E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.C1754A:p.A585E;ENSG00000173482:ENST00000580170:exon11:c.C1754A:p.A585E;ENSG00000173482:ENST00000400060:exon11:c.C1754A:p.A585E;ENSG00000173482:ENST00000444013:exon7:c.C1115A:p.A372E;ENSG00000173482:ENST00000400053:exon11:c.C1568A:p.A523E;	0.965013792203214	0.75
18	8088747	C	G	18	8088749	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.C1754G:p.A585G;PTPRM:NM_001105244:exon11:c.C1754G:p.A585G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.C1754G:p.A585G;ENSG00000173482:ENST00000580170:exon11:c.C1754G:p.A585G;ENSG00000173482:ENST00000400060:exon11:c.C1754G:p.A585G;ENSG00000173482:ENST00000444013:exon7:c.C1115G:p.A372G;ENSG00000173482:ENST00000400053:exon11:c.C1568G:p.A523G;	0.974311718456238	0.65
18	8088747	C	T	18	8088749	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.C1754T:p.A585V;PTPRM:NM_001105244:exon11:c.C1754T:p.A585V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.C1754T:p.A585V;ENSG00000173482:ENST00000580170:exon11:c.C1754T:p.A585V;ENSG00000173482:ENST00000400060:exon11:c.C1754T:p.A585V;ENSG00000173482:ENST00000444013:exon7:c.C1115T:p.A372V;ENSG00000173482:ENST00000400053:exon11:c.C1568T:p.A523V;	0.995454129419061	0.948
18	8088748	A	C	18	8088750	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon11:c.A1755C:p.A585A;PTPRM:NM_001105244:exon11:c.A1755C:p.A585A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.A1755C:p.A585A;ENSG00000173482:ENST00000580170:exon11:c.A1755C:p.A585A;ENSG00000173482:ENST00000400060:exon11:c.A1755C:p.A585A;ENSG00000173482:ENST00000444013:exon7:c.A1116C:p.A372A;ENSG00000173482:ENST00000400053:exon11:c.A1569C:p.A523A;	2.78871630199804E-5	0.0
18	8088748	A	G	18	8088750	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon11:c.A1755G:p.A585A;PTPRM:NM_001105244:exon11:c.A1755G:p.A585A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.A1755G:p.A585A;ENSG00000173482:ENST00000580170:exon11:c.A1755G:p.A585A;ENSG00000173482:ENST00000400060:exon11:c.A1755G:p.A585A;ENSG00000173482:ENST00000444013:exon7:c.A1116G:p.A372A;ENSG00000173482:ENST00000400053:exon11:c.A1569G:p.A523A;	1.89322400143707E-5	0.014
18	8088748	A	T	18	8088750	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon11:c.A1755T:p.A585A;PTPRM:NM_001105244:exon11:c.A1755T:p.A585A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.A1755T:p.A585A;ENSG00000173482:ENST00000580170:exon11:c.A1755T:p.A585A;ENSG00000173482:ENST00000400060:exon11:c.A1755T:p.A585A;ENSG00000173482:ENST00000444013:exon7:c.A1116T:p.A372A;ENSG00000173482:ENST00000400053:exon11:c.A1569T:p.A523A;	8.52335195537453E-6	0.0
18	8088847	C	A	18	8088849	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon11:c.C1854A:p.V618V;PTPRM:NM_001105244:exon11:c.C1854A:p.V618V;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.C1854A:p.V618V;ENSG00000173482:ENST00000580170:exon11:c.C1854A:p.V618V;ENSG00000173482:ENST00000400060:exon11:c.C1854A:p.V618V;ENSG00000173482:ENST00000444013:exon7:c.C1215A:p.V405V;ENSG00000173482:ENST00000400053:exon11:c.C1668A:p.V556V;	0.0817246846223307	0.222
18	8088847	C	G	18	8088849	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon11:c.C1854G:p.V618V;PTPRM:NM_001105244:exon11:c.C1854G:p.V618V;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.C1854G:p.V618V;ENSG00000173482:ENST00000580170:exon11:c.C1854G:p.V618V;ENSG00000173482:ENST00000400060:exon11:c.C1854G:p.V618V;ENSG00000173482:ENST00000444013:exon7:c.C1215G:p.V405V;ENSG00000173482:ENST00000400053:exon11:c.C1668G:p.V556V;	0.0751446824297724	0.2
18	8088847	C	T	18	8088849	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon11:c.C1854T:p.V618V;PTPRM:NM_001105244:exon11:c.C1854T:p.V618V;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.C1854T:p.V618V;ENSG00000173482:ENST00000580170:exon11:c.C1854T:p.V618V;ENSG00000173482:ENST00000400060:exon11:c.C1854T:p.V618V;ENSG00000173482:ENST00000444013:exon7:c.C1215T:p.V405V;ENSG00000173482:ENST00000400053:exon11:c.C1668T:p.V556V;	0.925682806730817	0.85
18	8088848	A	C	18	8088850	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.A1855C:p.S619R;PTPRM:NM_001105244:exon11:c.A1855C:p.S619R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.A1855C:p.S619R;ENSG00000173482:ENST00000580170:exon11:c.A1855C:p.S619R;ENSG00000173482:ENST00000400060:exon11:c.A1855C:p.S619R;ENSG00000173482:ENST00000444013:exon7:c.A1216C:p.S406R;ENSG00000173482:ENST00000400053:exon11:c.A1669C:p.S557R;	0.999752772565098	0.992
18	8088848	A	G	18	8088850	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.A1855G:p.S619G;PTPRM:NM_001105244:exon11:c.A1855G:p.S619G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.A1855G:p.S619G;ENSG00000173482:ENST00000580170:exon11:c.A1855G:p.S619G;ENSG00000173482:ENST00000400060:exon11:c.A1855G:p.S619G;ENSG00000173482:ENST00000444013:exon7:c.A1216G:p.S406G;ENSG00000173482:ENST00000400053:exon11:c.A1669G:p.S557G;	0.999834524436269	0.986
18	8088848	A	T	18	8088850	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.A1855T:p.S619C;PTPRM:NM_001105244:exon11:c.A1855T:p.S619C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.A1855T:p.S619C;ENSG00000173482:ENST00000580170:exon11:c.A1855T:p.S619C;ENSG00000173482:ENST00000400060:exon11:c.A1855T:p.S619C;ENSG00000173482:ENST00000444013:exon7:c.A1216T:p.S406C;ENSG00000173482:ENST00000400053:exon11:c.A1669T:p.S557C;	0.999894162582553	1.0
18	8088849	G	A	18	8088851	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.G1856A:p.S619N;PTPRM:NM_001105244:exon11:c.G1856A:p.S619N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.G1856A:p.S619N;ENSG00000173482:ENST00000580170:exon11:c.G1856A:p.S619N;ENSG00000173482:ENST00000400060:exon11:c.G1856A:p.S619N;ENSG00000173482:ENST00000444013:exon7:c.G1217A:p.S406N;ENSG00000173482:ENST00000400053:exon11:c.G1670A:p.S557N;	0.99996462167504	0.998
18	8088849	G	C	18	8088851	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.G1856C:p.S619T;PTPRM:NM_001105244:exon11:c.G1856C:p.S619T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.G1856C:p.S619T;ENSG00000173482:ENST00000580170:exon11:c.G1856C:p.S619T;ENSG00000173482:ENST00000400060:exon11:c.G1856C:p.S619T;ENSG00000173482:ENST00000444013:exon7:c.G1217C:p.S406T;ENSG00000173482:ENST00000400053:exon11:c.G1670C:p.S557T;	0.999991579223159	1.0
18	8088849	G	T	18	8088851	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon11:c.G1856T:p.S619I;PTPRM:NM_001105244:exon11:c.G1856T:p.S619I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon11:c.G1856T:p.S619I;ENSG00000173482:ENST00000580170:exon11:c.G1856T:p.S619I;ENSG00000173482:ENST00000400060:exon11:c.G1856T:p.S619I;ENSG00000173482:ENST00000444013:exon7:c.G1217T:p.S406I;ENSG00000173482:ENST00000400053:exon11:c.G1670T:p.S557I;	0.999921772283087	0.976
18	8088850	G	A	18	8088852	y	y	splicing	PTPRM(NM_002845:exon11:c.1856+1G>A;NM_001105244:exon11:c.1856+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1856+1G>A;ENST00000580170:exon11:c.1856+1G>A;ENST00000400060:exon11:c.1856+1G>A;ENST00000400053:exon11:c.1670+1G>A;ENST00000444013:exon7:c.1217+1G>A;ENST00000583289:exon2:c.274+1G>A)	.	.	0.999985532734767	0.936
18	8088850	G	C	18	8088852	y	y	splicing	PTPRM(NM_002845:exon11:c.1856+1G>C;NM_001105244:exon11:c.1856+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1856+1G>C;ENST00000580170:exon11:c.1856+1G>C;ENST00000400060:exon11:c.1856+1G>C;ENST00000400053:exon11:c.1670+1G>C;ENST00000444013:exon7:c.1217+1G>C;ENST00000583289:exon2:c.274+1G>C)	.	.	0.999985532734767	0.936
18	8088850	G	T	18	8088852	y	y	splicing	PTPRM(NM_002845:exon11:c.1856+1G>T;NM_001105244:exon11:c.1856+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1856+1G>T;ENST00000580170:exon11:c.1856+1G>T;ENST00000400060:exon11:c.1856+1G>T;ENST00000400053:exon11:c.1670+1G>T;ENST00000444013:exon7:c.1217+1G>T;ENST00000583289:exon2:c.274+1G>T)	.	.	0.999985532734767	0.936
18	8088851	T	A	18	8088853	y	y	splicing	PTPRM(NM_002845:exon11:c.1856+2T>A;NM_001105244:exon11:c.1856+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1856+2T>A;ENST00000580170:exon11:c.1856+2T>A;ENST00000400060:exon11:c.1856+2T>A;ENST00000400053:exon11:c.1670+2T>A;ENST00000444013:exon7:c.1217+2T>A;ENST00000583289:exon2:c.274+2T>A)	.	.	0.999988247793601	0.928
18	8088851	T	C	18	8088853	y	y	splicing	PTPRM(NM_002845:exon11:c.1856+2T>C;NM_001105244:exon11:c.1856+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1856+2T>C;ENST00000580170:exon11:c.1856+2T>C;ENST00000400060:exon11:c.1856+2T>C;ENST00000400053:exon11:c.1670+2T>C;ENST00000444013:exon7:c.1217+2T>C;ENST00000583289:exon2:c.274+2T>C)	.	.	0.99340600729494	0.642
18	8088851	T	G	18	8088853	y	y	splicing	PTPRM(NM_002845:exon11:c.1856+2T>G;NM_001105244:exon11:c.1856+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon11:c.1856+2T>G;ENST00000580170:exon11:c.1856+2T>G;ENST00000400060:exon11:c.1856+2T>G;ENST00000400053:exon11:c.1670+2T>G;ENST00000444013:exon7:c.1217+2T>G;ENST00000583289:exon2:c.274+2T>G)	.	.	0.999988247793601	0.928
18	8088852	A	C	18	8088854	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999564350075752	0.866
18	8088852	A	G	18	8088854	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99853200789067	0.864
18	8088852	A	T	18	8088854	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997420552054956	0.884
18	8088853	T	A	18	8088855	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.94830035014915E-5	0.074
18	8088853	T	C	18	8088855	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.46549761101468E-5	0.004
18	8088853	T	G	18	8088855	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.21832025476073E-5	0.124
18	8088854	G	A	18	8088856	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0114051151411165	0.328
18	8088854	G	C	18	8088856	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.151497687374986	0.386
18	8088854	G	T	18	8088856	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0713083957320715	0.306
18	8088855	G	A	18	8088857	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.41682132444013E-5	0.004
18	8088855	G	C	18	8088857	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.24004506342452E-5	0.006
18	8088855	G	T	18	8088857	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.3549259078105E-5	0.004
18	8088856	A	C	18	8088858	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.97466489557589E-5	0.004
18	8088856	A	G	18	8088858	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.04545031207179E-4	0.002
18	8088856	A	T	18	8088858	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.31464887537645E-4	0.002
18	8088857	A	C	18	8088859	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.09136496215274E-5	0.0
18	8088857	A	G	18	8088859	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.5092452581904E-5	0.002
18	8088857	A	T	18	8088859	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.87945186568028E-6	0.0
18	8113472	T	A	18	8113474	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.986963699361585	0.624
18	8113472	T	C	18	8113474	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.597162346118591	0.486
18	8113472	T	G	18	8113474	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.983021897931091	0.622
18	8113473	T	A	18	8113475	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999954248488106	0.934
18	8113473	T	C	18	8113475	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.53906017644371E-5	0.212
18	8113473	T	G	18	8113475	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00109500989874929	0.274
18	8113474	G	A	18	8113476	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.89238971310442E-4	0.006
18	8113474	G	C	18	8113476	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.35546186020934E-5	0.002
18	8113474	G	T	18	8113476	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.24946124562231E-5	0.0
18	8113475	T	A	18	8113477	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0816878052725578	0.118
18	8113475	T	C	18	8113477	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00155357810704357	0.032
18	8113475	T	G	18	8113477	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0287968545342097	0.076
18	8113476	T	A	18	8113478	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00521557012185082	0.084
18	8113476	T	C	18	8113478	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.89959034860191E-4	0.012
18	8113476	T	G	18	8113478	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0105838611257219	0.14
18	8113477	T	A	18	8113479	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0442433544667956	0.102
18	8113477	T	C	18	8113479	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.57743587233657E-4	0.012
18	8113477	T	G	18	8113479	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0148555257514205	0.056
18	8113478	T	A	18	8113480	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00676100633718651	0.09
18	8113478	T	C	18	8113480	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.13011700102975E-4	0.008
18	8113478	T	G	18	8113480	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0093533224901451	0.084
18	8113479	T	A	18	8113481	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0115790051771376	0.264
18	8113479	T	C	18	8113481	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00119625981255764	0.054
18	8113479	T	G	18	8113481	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0606123152584922	0.316
18	8113480	C	A	18	8113482	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00356623629387744	0.168
18	8113480	C	G	18	8113482	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00506402497668084	0.196
18	8113480	C	T	18	8113482	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.26958772646031E-4	0.086
18	8113481	T	A	18	8113483	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00251513292693263	0.19
18	8113481	T	C	18	8113483	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.47048902559741E-5	0.0
18	8113481	T	G	18	8113483	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.932330140896709	0.728
18	8113482	A	C	18	8113484	y	y	splicing	PTPRM(NM_002845:exon12:c.1857-2A>C;NM_001105244:exon12:c.1857-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.1857-2A>C;ENST00000580170:exon12:c.1857-2A>C;ENST00000400060:exon12:c.1857-2A>C;ENST00000400053:exon12:c.1671-2A>C;ENST00000444013:exon8:c.1218-2A>C;ENST00000583289:exon3:c.275-2A>C)	.	.	0.999988247793601	0.932
18	8113482	A	G	18	8113484	y	y	splicing	PTPRM(NM_002845:exon12:c.1857-2A>G;NM_001105244:exon12:c.1857-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.1857-2A>G;ENST00000580170:exon12:c.1857-2A>G;ENST00000400060:exon12:c.1857-2A>G;ENST00000400053:exon12:c.1671-2A>G;ENST00000444013:exon8:c.1218-2A>G;ENST00000583289:exon3:c.275-2A>G)	.	.	0.999988247793601	0.932
18	8113482	A	T	18	8113484	y	y	splicing	PTPRM(NM_002845:exon12:c.1857-2A>T;NM_001105244:exon12:c.1857-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.1857-2A>T;ENST00000580170:exon12:c.1857-2A>T;ENST00000400060:exon12:c.1857-2A>T;ENST00000400053:exon12:c.1671-2A>T;ENST00000444013:exon8:c.1218-2A>T;ENST00000583289:exon3:c.275-2A>T)	.	.	0.999988247793601	0.932
18	8113483	G	A	18	8113485	y	y	splicing	PTPRM(NM_002845:exon12:c.1857-1G>A;NM_001105244:exon12:c.1857-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.1857-1G>A;ENST00000580170:exon12:c.1857-1G>A;ENST00000400060:exon12:c.1857-1G>A;ENST00000400053:exon12:c.1671-1G>A;ENST00000444013:exon8:c.1218-1G>A;ENST00000583289:exon3:c.275-1G>A)	.	.	0.999990361384395	0.938
18	8113483	G	C	18	8113485	y	y	splicing	PTPRM(NM_002845:exon12:c.1857-1G>C;NM_001105244:exon12:c.1857-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.1857-1G>C;ENST00000580170:exon12:c.1857-1G>C;ENST00000400060:exon12:c.1857-1G>C;ENST00000400053:exon12:c.1671-1G>C;ENST00000444013:exon8:c.1218-1G>C;ENST00000583289:exon3:c.275-1G>C)	.	.	0.999990361384395	0.938
18	8113483	G	T	18	8113485	y	y	splicing	PTPRM(NM_002845:exon12:c.1857-1G>T;NM_001105244:exon12:c.1857-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.1857-1G>T;ENST00000580170:exon12:c.1857-1G>T;ENST00000400060:exon12:c.1857-1G>T;ENST00000400053:exon12:c.1671-1G>T;ENST00000444013:exon8:c.1218-1G>T;ENST00000583289:exon3:c.275-1G>T)	.	.	0.999990361384395	0.938
18	8113484	T	A	18	8113486	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.T1857A:p.S619R;PTPRM:NM_001105244:exon12:c.T1857A:p.S619R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.T1857A:p.S619R;ENSG00000173482:ENST00000580170:exon12:c.T1857A:p.S619R;ENSG00000173482:ENST00000400060:exon12:c.T1857A:p.S619R;ENSG00000173482:ENST00000444013:exon8:c.T1218A:p.S406R;ENSG00000173482:ENST00000400053:exon12:c.T1671A:p.S557R;	3.65409036034926E-4	0.286
18	8113484	T	C	18	8113486	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon12:c.T1857C:p.S619S;PTPRM:NM_001105244:exon12:c.T1857C:p.S619S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.T1857C:p.S619S;ENSG00000173482:ENST00000580170:exon12:c.T1857C:p.S619S;ENSG00000173482:ENST00000400060:exon12:c.T1857C:p.S619S;ENSG00000173482:ENST00000444013:exon8:c.T1218C:p.S406S;ENSG00000173482:ENST00000400053:exon12:c.T1671C:p.S557S;	9.45146840160699E-5	0.018
18	8113484	T	G	18	8113486	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.T1857G:p.S619R;PTPRM:NM_001105244:exon12:c.T1857G:p.S619R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.T1857G:p.S619R;ENSG00000173482:ENST00000580170:exon12:c.T1857G:p.S619R;ENSG00000173482:ENST00000400060:exon12:c.T1857G:p.S619R;ENSG00000173482:ENST00000444013:exon8:c.T1218G:p.S406R;ENSG00000173482:ENST00000400053:exon12:c.T1671G:p.S557R;	0.00153278480788342	0.324
18	8113485	G	A	18	8113487	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G1858A:p.V620I;PTPRM:NM_001105244:exon12:c.G1858A:p.V620I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G1858A:p.V620I;ENSG00000173482:ENST00000580170:exon12:c.G1858A:p.V620I;ENSG00000173482:ENST00000400060:exon12:c.G1858A:p.V620I;ENSG00000173482:ENST00000444013:exon8:c.G1219A:p.V407I;ENSG00000173482:ENST00000400053:exon12:c.G1672A:p.V558I;	0.986804936802279	0.714
18	8113485	G	C	18	8113487	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G1858C:p.V620L;PTPRM:NM_001105244:exon12:c.G1858C:p.V620L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G1858C:p.V620L;ENSG00000173482:ENST00000580170:exon12:c.G1858C:p.V620L;ENSG00000173482:ENST00000400060:exon12:c.G1858C:p.V620L;ENSG00000173482:ENST00000444013:exon8:c.G1219C:p.V407L;ENSG00000173482:ENST00000400053:exon12:c.G1672C:p.V558L;	0.752506720362574	0.576
18	8113485	G	T	18	8113487	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G1858T:p.V620F;PTPRM:NM_001105244:exon12:c.G1858T:p.V620F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G1858T:p.V620F;ENSG00000173482:ENST00000580170:exon12:c.G1858T:p.V620F;ENSG00000173482:ENST00000400060:exon12:c.G1858T:p.V620F;ENSG00000173482:ENST00000444013:exon8:c.G1219T:p.V407F;ENSG00000173482:ENST00000400053:exon12:c.G1672T:p.V558F;	0.02363856624699	0.186
18	8113755	G	A	18	8113757	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G2128A:p.G710R;PTPRM:NM_001105244:exon12:c.G2128A:p.G710R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2128A:p.G710R;ENSG00000173482:ENST00000580170:exon12:c.G2128A:p.G710R;ENSG00000173482:ENST00000400060:exon12:c.G2128A:p.G710R;ENSG00000173482:ENST00000444013:exon8:c.G1489A:p.G497R;ENSG00000173482:ENST00000400053:exon12:c.G1942A:p.G648R;ENSG00000173482:ENST00000577468:exon1:c.G187A:p.G63R;	0.266997594461022	0.536
18	8113755	G	C	18	8113757	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G2128C:p.G710R;PTPRM:NM_001105244:exon12:c.G2128C:p.G710R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2128C:p.G710R;ENSG00000173482:ENST00000580170:exon12:c.G2128C:p.G710R;ENSG00000173482:ENST00000400060:exon12:c.G2128C:p.G710R;ENSG00000173482:ENST00000444013:exon8:c.G1489C:p.G497R;ENSG00000173482:ENST00000400053:exon12:c.G1942C:p.G648R;ENSG00000173482:ENST00000577468:exon1:c.G187C:p.G63R;	0.244889601856979	0.51
18	8113755	G	T	18	8113757	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G2128T:p.G710W;PTPRM:NM_001105244:exon12:c.G2128T:p.G710W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2128T:p.G710W;ENSG00000173482:ENST00000580170:exon12:c.G2128T:p.G710W;ENSG00000173482:ENST00000400060:exon12:c.G2128T:p.G710W;ENSG00000173482:ENST00000444013:exon8:c.G1489T:p.G497W;ENSG00000173482:ENST00000400053:exon12:c.G1942T:p.G648W;ENSG00000173482:ENST00000577468:exon1:c.G187T:p.G63W;	0.355471115557136	0.524
18	8113756	G	A	18	8113758	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G2129A:p.G710E;PTPRM:NM_001105244:exon12:c.G2129A:p.G710E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2129A:p.G710E;ENSG00000173482:ENST00000580170:exon12:c.G2129A:p.G710E;ENSG00000173482:ENST00000400060:exon12:c.G2129A:p.G710E;ENSG00000173482:ENST00000444013:exon8:c.G1490A:p.G497E;ENSG00000173482:ENST00000400053:exon12:c.G1943A:p.G648E;ENSG00000173482:ENST00000577468:exon1:c.G188A:p.G63E;	0.96383243913098	0.652
18	8113756	G	C	18	8113758	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G2129C:p.G710A;PTPRM:NM_001105244:exon12:c.G2129C:p.G710A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2129C:p.G710A;ENSG00000173482:ENST00000580170:exon12:c.G2129C:p.G710A;ENSG00000173482:ENST00000400060:exon12:c.G2129C:p.G710A;ENSG00000173482:ENST00000444013:exon8:c.G1490C:p.G497A;ENSG00000173482:ENST00000400053:exon12:c.G1943C:p.G648A;ENSG00000173482:ENST00000577468:exon1:c.G188C:p.G63A;	0.992582827656597	0.906
18	8113756	G	T	18	8113758	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon12:c.G2129T:p.G710V;PTPRM:NM_001105244:exon12:c.G2129T:p.G710V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2129T:p.G710V;ENSG00000173482:ENST00000580170:exon12:c.G2129T:p.G710V;ENSG00000173482:ENST00000400060:exon12:c.G2129T:p.G710V;ENSG00000173482:ENST00000444013:exon8:c.G1490T:p.G497V;ENSG00000173482:ENST00000400053:exon12:c.G1943T:p.G648V;ENSG00000173482:ENST00000577468:exon1:c.G188T:p.G63V;	0.991246449439132	0.848
18	8113757	G	A	18	8113759	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon12:c.G2130A:p.G710G;PTPRM:NM_001105244:exon12:c.G2130A:p.G710G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2130A:p.G710G;ENSG00000173482:ENST00000580170:exon12:c.G2130A:p.G710G;ENSG00000173482:ENST00000400060:exon12:c.G2130A:p.G710G;ENSG00000173482:ENST00000444013:exon8:c.G1491A:p.G497G;ENSG00000173482:ENST00000400053:exon12:c.G1944A:p.G648G;ENSG00000173482:ENST00000577468:exon1:c.G189A:p.G63G;	0.981288070383945	0.878
18	8113757	G	C	18	8113759	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon12:c.G2130C:p.G710G;PTPRM:NM_001105244:exon12:c.G2130C:p.G710G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2130C:p.G710G;ENSG00000173482:ENST00000580170:exon12:c.G2130C:p.G710G;ENSG00000173482:ENST00000400060:exon12:c.G2130C:p.G710G;ENSG00000173482:ENST00000444013:exon8:c.G1491C:p.G497G;ENSG00000173482:ENST00000400053:exon12:c.G1944C:p.G648G;ENSG00000173482:ENST00000577468:exon1:c.G189C:p.G63G;	0.997643767973761	0.902
18	8113757	G	T	18	8113759	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon12:c.G2130T:p.G710G;PTPRM:NM_001105244:exon12:c.G2130T:p.G710G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon12:c.G2130T:p.G710G;ENSG00000173482:ENST00000580170:exon12:c.G2130T:p.G710G;ENSG00000173482:ENST00000400060:exon12:c.G2130T:p.G710G;ENSG00000173482:ENST00000444013:exon8:c.G1491T:p.G497G;ENSG00000173482:ENST00000400053:exon12:c.G1944T:p.G648G;ENSG00000173482:ENST00000577468:exon1:c.G189T:p.G63G;	0.988069775372501	0.902
18	8113758	G	A	18	8113760	y	y	splicing	PTPRM(NM_002845:exon12:c.2130+1G>A;NM_001105244:exon12:c.2130+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.2130+1G>A;ENST00000580170:exon12:c.2130+1G>A;ENST00000400060:exon12:c.2130+1G>A;ENST00000400053:exon12:c.1944+1G>A;ENST00000444013:exon8:c.1491+1G>A;ENST00000583289:exon3:c.548+1G>A;ENST00000577468:exon1:c.189+1G>A)	.	.	0.999989072007339	0.934
18	8113758	G	C	18	8113760	y	y	splicing	PTPRM(NM_002845:exon12:c.2130+1G>C;NM_001105244:exon12:c.2130+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.2130+1G>C;ENST00000580170:exon12:c.2130+1G>C;ENST00000400060:exon12:c.2130+1G>C;ENST00000400053:exon12:c.1944+1G>C;ENST00000444013:exon8:c.1491+1G>C;ENST00000583289:exon3:c.548+1G>C;ENST00000577468:exon1:c.189+1G>C)	.	.	0.999989072007339	0.934
18	8113758	G	T	18	8113760	y	y	splicing	PTPRM(NM_002845:exon12:c.2130+1G>T;NM_001105244:exon12:c.2130+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.2130+1G>T;ENST00000580170:exon12:c.2130+1G>T;ENST00000400060:exon12:c.2130+1G>T;ENST00000400053:exon12:c.1944+1G>T;ENST00000444013:exon8:c.1491+1G>T;ENST00000583289:exon3:c.548+1G>T;ENST00000577468:exon1:c.189+1G>T)	.	.	0.999989072007339	0.934
18	8113759	T	A	18	8113761	y	y	splicing	PTPRM(NM_002845:exon12:c.2130+2T>A;NM_001105244:exon12:c.2130+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.2130+2T>A;ENST00000580170:exon12:c.2130+2T>A;ENST00000400060:exon12:c.2130+2T>A;ENST00000400053:exon12:c.1944+2T>A;ENST00000444013:exon8:c.1491+2T>A;ENST00000583289:exon3:c.548+2T>A;ENST00000577468:exon1:c.189+2T>A)	.	.	0.999988247793601	0.93
18	8113759	T	C	18	8113761	y	y	splicing	PTPRM(NM_002845:exon12:c.2130+2T>C;NM_001105244:exon12:c.2130+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.2130+2T>C;ENST00000580170:exon12:c.2130+2T>C;ENST00000400060:exon12:c.2130+2T>C;ENST00000400053:exon12:c.1944+2T>C;ENST00000444013:exon8:c.1491+2T>C;ENST00000583289:exon3:c.548+2T>C;ENST00000577468:exon1:c.189+2T>C)	.	.	0.994359181757974	0.67
18	8113759	T	G	18	8113761	y	y	splicing	PTPRM(NM_002845:exon12:c.2130+2T>G;NM_001105244:exon12:c.2130+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon12:c.2130+2T>G;ENST00000580170:exon12:c.2130+2T>G;ENST00000400060:exon12:c.2130+2T>G;ENST00000400053:exon12:c.1944+2T>G;ENST00000444013:exon8:c.1491+2T>G;ENST00000583289:exon3:c.548+2T>G;ENST00000577468:exon1:c.189+2T>G)	.	.	0.999988247793601	0.93
18	8113760	A	C	18	8113762	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99891334077142	0.932
18	8113760	A	G	18	8113762	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.145896490318244	0.35
18	8113760	A	T	18	8113762	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997628680616687	0.904
18	8113761	A	C	18	8113763	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.433069608188978	0.286
18	8113761	A	G	18	8113763	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.950712285958083	0.566
18	8113761	A	T	18	8113763	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.927063546180965	0.44
18	8113762	G	A	18	8113764	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99953425389018	0.956
18	8113762	G	C	18	8113764	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999488273578251	0.908
18	8113762	G	T	18	8113764	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999688318960943	0.876
18	8113763	T	A	18	8113765	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.958246497043476	0.632
18	8113763	T	C	18	8113765	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.938782604125462	0.638
18	8113763	T	G	18	8113765	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.921330012782585	0.6
18	8113764	T	A	18	8113766	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.83811938120301E-5	0.038
18	8113764	T	C	18	8113766	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.49372494602284E-4	0.056
18	8113764	T	G	18	8113766	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.37354186982668E-5	0.036
18	8113765	G	A	18	8113767	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.96750591777103E-4	0.026
18	8113765	G	C	18	8113767	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.96750591777103E-4	0.024
18	8113765	G	T	18	8113767	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.96750591777103E-4	0.024
18	8114777	T	A	18	8114779	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.837615272149353	0.584
18	8114777	T	C	18	8114779	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.90778927328766E-4	0.042
18	8114777	T	G	18	8114779	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.13252353871698	0.474
18	8114778	A	C	18	8114780	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.32079632582946E-5	0.0
18	8114778	A	G	18	8114780	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.63645457096982E-5	0.006
18	8114778	A	T	18	8114780	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.52779970141638E-4	0.042
18	8114779	T	A	18	8114781	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999807296535298	0.936
18	8114779	T	C	18	8114781	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.608700517194923	0.538
18	8114779	T	G	18	8114781	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999977597386882	0.974
18	8114780	T	A	18	8114782	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999701982103051	0.934
18	8114780	T	C	18	8114782	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.809040962695429	0.536
18	8114780	T	G	18	8114782	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999881109372265	0.966
18	8114781	T	A	18	8114783	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999926859870504	0.976
18	8114781	T	C	18	8114783	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.320122109895648	0.516
18	8114781	T	G	18	8114783	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.994736583064493	0.81
18	8114782	G	A	18	8114784	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.014262695753383	0.178
18	8114782	G	C	18	8114784	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.13570167080448E-4	0.004
18	8114782	G	T	18	8114784	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.13570167080448E-4	0.008
18	8114783	A	C	18	8114785	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.60621183363969E-4	0.0
18	8114783	A	G	18	8114785	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.55089702612222E-4	0.018
18	8114783	A	T	18	8114785	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.16061036645169E-5	0.016
18	8114784	C	A	18	8114786	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0286560004341138	0.192
18	8114784	C	G	18	8114786	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999902674987566	0.968
18	8114784	C	T	18	8114786	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.97595335646704E-4	0.044
18	8114785	A	C	18	8114787	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00109491932667426	0.092
18	8114785	A	G	18	8114787	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00540350859233271	0.126
18	8114785	A	T	18	8114787	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00800380478370657	0.166
18	8114786	C	A	18	8114788	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998130921510389	0.91
18	8114786	C	G	18	8114788	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999928021200783	0.944
18	8114786	C	T	18	8114788	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.283363340340425	0.268
18	8114787	A	C	18	8114789	y	y	splicing	PTPRM(NM_002845:exon13:c.2131-2A>C;NM_001105244:exon13:c.2131-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2131-2A>C;ENST00000580170:exon13:c.2131-2A>C;ENST00000400060:exon13:c.2131-2A>C;ENST00000400053:exon13:c.1945-2A>C;ENST00000444013:exon9:c.1492-2A>C;ENST00000583289:exon4:c.549-2A>C;ENST00000577468:exon2:c.190-2A>C)	.	.	0.999990764389106	0.94
18	8114787	A	G	18	8114789	y	y	splicing	PTPRM(NM_002845:exon13:c.2131-2A>G;NM_001105244:exon13:c.2131-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2131-2A>G;ENST00000580170:exon13:c.2131-2A>G;ENST00000400060:exon13:c.2131-2A>G;ENST00000400053:exon13:c.1945-2A>G;ENST00000444013:exon9:c.1492-2A>G;ENST00000583289:exon4:c.549-2A>G;ENST00000577468:exon2:c.190-2A>G)	.	.	0.999990764389106	0.94
18	8114787	A	T	18	8114789	y	y	splicing	PTPRM(NM_002845:exon13:c.2131-2A>T;NM_001105244:exon13:c.2131-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2131-2A>T;ENST00000580170:exon13:c.2131-2A>T;ENST00000400060:exon13:c.2131-2A>T;ENST00000400053:exon13:c.1945-2A>T;ENST00000444013:exon9:c.1492-2A>T;ENST00000583289:exon4:c.549-2A>T;ENST00000577468:exon2:c.190-2A>T)	.	.	0.999990764389106	0.94
18	8114788	G	A	18	8114790	y	y	splicing	PTPRM(NM_002845:exon13:c.2131-1G>A;NM_001105244:exon13:c.2131-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2131-1G>A;ENST00000580170:exon13:c.2131-1G>A;ENST00000400060:exon13:c.2131-1G>A;ENST00000400053:exon13:c.1945-1G>A;ENST00000444013:exon9:c.1492-1G>A;ENST00000583289:exon4:c.549-1G>A;ENST00000577468:exon2:c.190-1G>A)	.	.	0.999992425382947	0.94
18	8114788	G	C	18	8114790	y	y	splicing	PTPRM(NM_002845:exon13:c.2131-1G>C;NM_001105244:exon13:c.2131-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2131-1G>C;ENST00000580170:exon13:c.2131-1G>C;ENST00000400060:exon13:c.2131-1G>C;ENST00000400053:exon13:c.1945-1G>C;ENST00000444013:exon9:c.1492-1G>C;ENST00000583289:exon4:c.549-1G>C;ENST00000577468:exon2:c.190-1G>C)	.	.	0.999992425382947	0.94
18	8114788	G	T	18	8114790	y	y	splicing	PTPRM(NM_002845:exon13:c.2131-1G>T;NM_001105244:exon13:c.2131-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2131-1G>T;ENST00000580170:exon13:c.2131-1G>T;ENST00000400060:exon13:c.2131-1G>T;ENST00000400053:exon13:c.1945-1G>T;ENST00000444013:exon9:c.1492-1G>T;ENST00000583289:exon4:c.549-1G>T;ENST00000577468:exon2:c.190-1G>T)	.	.	0.999992425382947	0.94
18	8114789	G	A	18	8114791	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.G2131A:p.E711K;PTPRM:NM_001105244:exon13:c.G2131A:p.E711K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.G2131A:p.E711K;ENSG00000173482:ENST00000580170:exon13:c.G2131A:p.E711K;ENSG00000173482:ENST00000400060:exon13:c.G2131A:p.E711K;ENSG00000173482:ENST00000444013:exon9:c.G1492A:p.E498K;ENSG00000173482:ENST00000400053:exon13:c.G1945A:p.E649K;ENSG00000173482:ENST00000577468:exon2:c.G190A:p.E64K;	0.999829278547308	0.904
18	8114789	G	C	18	8114791	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.G2131C:p.E711Q;PTPRM:NM_001105244:exon13:c.G2131C:p.E711Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.G2131C:p.E711Q;ENSG00000173482:ENST00000580170:exon13:c.G2131C:p.E711Q;ENSG00000173482:ENST00000400060:exon13:c.G2131C:p.E711Q;ENSG00000173482:ENST00000444013:exon9:c.G1492C:p.E498Q;ENSG00000173482:ENST00000400053:exon13:c.G1945C:p.E649Q;ENSG00000173482:ENST00000577468:exon2:c.G190C:p.E64Q;	0.999913170310765	0.982
18	8114789	G	T	18	8114791	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon13:c.G2131T:p.E711X;PTPRM:NM_001105244:exon13:c.G2131T:p.E711X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon13:c.G2131T:p.E711X;ENSG00000173482:ENST00000580170:exon13:c.G2131T:p.E711X;ENSG00000173482:ENST00000400060:exon13:c.G2131T:p.E711X;ENSG00000173482:ENST00000444013:exon9:c.G1492T:p.E498X;ENSG00000173482:ENST00000400053:exon13:c.G1945T:p.E649X;ENSG00000173482:ENST00000577468:exon2:c.G190T:p.E64X;	0.999956167309661	0.99
18	8114790	A	C	18	8114792	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.A2132C:p.E711A;PTPRM:NM_001105244:exon13:c.A2132C:p.E711A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2132C:p.E711A;ENSG00000173482:ENST00000580170:exon13:c.A2132C:p.E711A;ENSG00000173482:ENST00000400060:exon13:c.A2132C:p.E711A;ENSG00000173482:ENST00000444013:exon9:c.A1493C:p.E498A;ENSG00000173482:ENST00000400053:exon13:c.A1946C:p.E649A;ENSG00000173482:ENST00000577468:exon2:c.A191C:p.E64A;	0.955811811729319	0.836
18	8114790	A	G	18	8114792	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.A2132G:p.E711G;PTPRM:NM_001105244:exon13:c.A2132G:p.E711G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2132G:p.E711G;ENSG00000173482:ENST00000580170:exon13:c.A2132G:p.E711G;ENSG00000173482:ENST00000400060:exon13:c.A2132G:p.E711G;ENSG00000173482:ENST00000444013:exon9:c.A1493G:p.E498G;ENSG00000173482:ENST00000400053:exon13:c.A1946G:p.E649G;ENSG00000173482:ENST00000577468:exon2:c.A191G:p.E64G;	0.940628250442582	0.76
18	8114790	A	T	18	8114792	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.A2132T:p.E711V;PTPRM:NM_001105244:exon13:c.A2132T:p.E711V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2132T:p.E711V;ENSG00000173482:ENST00000580170:exon13:c.A2132T:p.E711V;ENSG00000173482:ENST00000400060:exon13:c.A2132T:p.E711V;ENSG00000173482:ENST00000444013:exon9:c.A1493T:p.E498V;ENSG00000173482:ENST00000400053:exon13:c.A1946T:p.E649V;ENSG00000173482:ENST00000577468:exon2:c.A191T:p.E64V;	0.910962086883732	0.766
18	8114823	A	C	18	8114825	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.A2165C:p.K722T;PTPRM:NM_001105244:exon13:c.A2165C:p.K722T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2165C:p.K722T;ENSG00000173482:ENST00000580170:exon13:c.A2165C:p.K722T;ENSG00000173482:ENST00000400060:exon13:c.A2165C:p.K722T;ENSG00000173482:ENST00000444013:exon9:c.A1526C:p.K509T;ENSG00000173482:ENST00000400053:exon13:c.A1979C:p.K660T;ENSG00000173482:ENST00000577468:exon2:c.A224C:p.K75T;	0.827037196448626	0.726
18	8114823	A	G	18	8114825	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.A2165G:p.K722R;PTPRM:NM_001105244:exon13:c.A2165G:p.K722R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2165G:p.K722R;ENSG00000173482:ENST00000580170:exon13:c.A2165G:p.K722R;ENSG00000173482:ENST00000400060:exon13:c.A2165G:p.K722R;ENSG00000173482:ENST00000444013:exon9:c.A1526G:p.K509R;ENSG00000173482:ENST00000400053:exon13:c.A1979G:p.K660R;ENSG00000173482:ENST00000577468:exon2:c.A224G:p.K75R;	0.432528771344951	0.53
18	8114823	A	T	18	8114825	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.A2165T:p.K722I;PTPRM:NM_001105244:exon13:c.A2165T:p.K722I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2165T:p.K722I;ENSG00000173482:ENST00000580170:exon13:c.A2165T:p.K722I;ENSG00000173482:ENST00000400060:exon13:c.A2165T:p.K722I;ENSG00000173482:ENST00000444013:exon9:c.A1526T:p.K509I;ENSG00000173482:ENST00000400053:exon13:c.A1979T:p.K660I;ENSG00000173482:ENST00000577468:exon2:c.A224T:p.K75I;	0.981047189831126	0.748
18	8114824	A	C	18	8114826	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.A2166C:p.K722N;PTPRM:NM_001105244:exon13:c.A2166C:p.K722N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2166C:p.K722N;ENSG00000173482:ENST00000580170:exon13:c.A2166C:p.K722N;ENSG00000173482:ENST00000400060:exon13:c.A2166C:p.K722N;ENSG00000173482:ENST00000444013:exon9:c.A1527C:p.K509N;ENSG00000173482:ENST00000400053:exon13:c.A1980C:p.K660N;ENSG00000173482:ENST00000577468:exon2:c.A225C:p.K75N;	0.998842329056421	0.966
18	8114824	A	G	18	8114826	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon13:c.A2166G:p.K722K;PTPRM:NM_001105244:exon13:c.A2166G:p.K722K;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2166G:p.K722K;ENSG00000173482:ENST00000580170:exon13:c.A2166G:p.K722K;ENSG00000173482:ENST00000400060:exon13:c.A2166G:p.K722K;ENSG00000173482:ENST00000444013:exon9:c.A1527G:p.K509K;ENSG00000173482:ENST00000400053:exon13:c.A1980G:p.K660K;ENSG00000173482:ENST00000577468:exon2:c.A225G:p.K75K;	0.999467367267382	0.964
18	8114824	A	T	18	8114826	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.A2166T:p.K722N;PTPRM:NM_001105244:exon13:c.A2166T:p.K722N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.A2166T:p.K722N;ENSG00000173482:ENST00000580170:exon13:c.A2166T:p.K722N;ENSG00000173482:ENST00000400060:exon13:c.A2166T:p.K722N;ENSG00000173482:ENST00000444013:exon9:c.A1527T:p.K509N;ENSG00000173482:ENST00000400053:exon13:c.A1980T:p.K660N;ENSG00000173482:ENST00000577468:exon2:c.A225T:p.K75N;	0.99989200351659	0.99
18	8114825	G	A	18	8114827	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.G2167A:p.G723R;PTPRM:NM_001105244:exon13:c.G2167A:p.G723R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.G2167A:p.G723R;ENSG00000173482:ENST00000580170:exon13:c.G2167A:p.G723R;ENSG00000173482:ENST00000400060:exon13:c.G2167A:p.G723R;ENSG00000173482:ENST00000444013:exon9:c.G1528A:p.G510R;ENSG00000173482:ENST00000400053:exon13:c.G1981A:p.G661R;ENSG00000173482:ENST00000577468:exon2:c.G226A:p.G76R;	0.999979494225037	0.992
18	8114825	G	C	18	8114827	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon13:c.G2167C:p.G723R;PTPRM:NM_001105244:exon13:c.G2167C:p.G723R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon13:c.G2167C:p.G723R;ENSG00000173482:ENST00000580170:exon13:c.G2167C:p.G723R;ENSG00000173482:ENST00000400060:exon13:c.G2167C:p.G723R;ENSG00000173482:ENST00000444013:exon9:c.G1528C:p.G510R;ENSG00000173482:ENST00000400053:exon13:c.G1981C:p.G661R;ENSG00000173482:ENST00000577468:exon2:c.G226C:p.G76R;	0.999992345422294	0.994
18	8114825	G	T	18	8114827	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon13:c.G2167T:p.G723X;PTPRM:NM_001105244:exon13:c.G2167T:p.G723X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon13:c.G2167T:p.G723X;ENSG00000173482:ENST00000580170:exon13:c.G2167T:p.G723X;ENSG00000173482:ENST00000400060:exon13:c.G2167T:p.G723X;ENSG00000173482:ENST00000444013:exon9:c.G1528T:p.G510X;ENSG00000173482:ENST00000400053:exon13:c.G1981T:p.G661X;ENSG00000173482:ENST00000577468:exon2:c.G226T:p.G76X;	0.999985007705141	0.996
18	8114826	G	A	18	8114828	y	y	splicing	PTPRM(NM_002845:exon13:c.2167+1G>A;NM_001105244:exon13:c.2167+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2167+1G>A;ENST00000580170:exon13:c.2167+1G>A;ENST00000400060:exon13:c.2167+1G>A;ENST00000400053:exon13:c.1981+1G>A;ENST00000444013:exon9:c.1528+1G>A;ENST00000583289:exon4:c.585+1G>A;ENST00000577468:exon2:c.226+1G>A)	.	.	0.999990361384395	0.938
18	8114826	G	C	18	8114828	y	y	splicing	PTPRM(NM_002845:exon13:c.2167+1G>C;NM_001105244:exon13:c.2167+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2167+1G>C;ENST00000580170:exon13:c.2167+1G>C;ENST00000400060:exon13:c.2167+1G>C;ENST00000400053:exon13:c.1981+1G>C;ENST00000444013:exon9:c.1528+1G>C;ENST00000583289:exon4:c.585+1G>C;ENST00000577468:exon2:c.226+1G>C)	.	.	0.999990361384395	0.938
18	8114826	G	T	18	8114828	y	y	splicing	PTPRM(NM_002845:exon13:c.2167+1G>T;NM_001105244:exon13:c.2167+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2167+1G>T;ENST00000580170:exon13:c.2167+1G>T;ENST00000400060:exon13:c.2167+1G>T;ENST00000400053:exon13:c.1981+1G>T;ENST00000444013:exon9:c.1528+1G>T;ENST00000583289:exon4:c.585+1G>T;ENST00000577468:exon2:c.226+1G>T)	.	.	0.999990361384395	0.938
18	8114827	T	A	18	8114829	y	y	splicing	PTPRM(NM_002845:exon13:c.2167+2T>A;NM_001105244:exon13:c.2167+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2167+2T>A;ENST00000580170:exon13:c.2167+2T>A;ENST00000400060:exon13:c.2167+2T>A;ENST00000400053:exon13:c.1981+2T>A;ENST00000444013:exon9:c.1528+2T>A;ENST00000583289:exon4:c.585+2T>A;ENST00000577468:exon2:c.226+2T>A)	.	.	0.999988247793601	0.93
18	8114827	T	C	18	8114829	y	y	splicing	PTPRM(NM_002845:exon13:c.2167+2T>C;NM_001105244:exon13:c.2167+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2167+2T>C;ENST00000580170:exon13:c.2167+2T>C;ENST00000400060:exon13:c.2167+2T>C;ENST00000400053:exon13:c.1981+2T>C;ENST00000444013:exon9:c.1528+2T>C;ENST00000583289:exon4:c.585+2T>C;ENST00000577468:exon2:c.226+2T>C)	.	.	0.996046924575706	0.73
18	8114827	T	G	18	8114829	y	y	splicing	PTPRM(NM_002845:exon13:c.2167+2T>G;NM_001105244:exon13:c.2167+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon13:c.2167+2T>G;ENST00000580170:exon13:c.2167+2T>G;ENST00000400060:exon13:c.2167+2T>G;ENST00000400053:exon13:c.1981+2T>G;ENST00000444013:exon9:c.1528+2T>G;ENST00000583289:exon4:c.585+2T>G;ENST00000577468:exon2:c.226+2T>G)	.	.	0.999988247793601	0.93
18	8114828	A	C	18	8114830	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997904679191658	0.94
18	8114828	A	G	18	8114830	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997500277712	0.896
18	8114828	A	T	18	8114830	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999496214828778	0.902
18	8114829	G	A	18	8114831	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.7951491391812E-4	0.008
18	8114829	G	C	18	8114831	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.60153729597449E-4	0.076
18	8114829	G	T	18	8114831	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.83415068197301E-4	0.034
18	8114830	G	A	18	8114832	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998673849437574	0.676
18	8114830	G	C	18	8114832	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999626283222335	0.798
18	8114830	G	T	18	8114832	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999450335628451	0.728
18	8114831	T	A	18	8114833	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00381121325183314	0.202
18	8114831	T	C	18	8114833	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00433367723943289	0.21
18	8114831	T	G	18	8114833	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0010033054448482	0.158
18	8114832	T	A	18	8114834	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.62622727744715E-5	0.01
18	8114832	T	C	18	8114834	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.20280698303851E-4	0.01
18	8114832	T	G	18	8114834	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.20280698303851E-4	0.01
18	8114833	G	A	18	8114835	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00254959309829593	0.078
18	8114833	G	C	18	8114835	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00172543038183735	0.076
18	8114833	G	T	18	8114835	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00137581373871025	0.078
18	8122228	C	A	18	8122230	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0501010916027844	0.216
18	8122228	C	G	18	8122230	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0420627857621314	0.138
18	8122228	C	T	18	8122230	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0897633671900128	0.236
18	8122229	C	A	18	8122231	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.101747750884609	0.228
18	8122229	C	G	18	8122231	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0861748975146968	0.144
18	8122229	C	T	18	8122231	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.101747750884609	0.242
18	8122230	T	A	18	8122232	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.222386838235996	0.448
18	8122230	T	C	18	8122232	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.104557125287749	0.278
18	8122230	T	G	18	8122232	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.222386838235996	0.286
18	8122231	T	A	18	8122233	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.474349078336576	0.588
18	8122231	T	C	18	8122233	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.325317064083526	0.582
18	8122231	T	G	18	8122233	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.325317064083526	0.576
18	8122232	T	A	18	8122234	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0557117808061228	0.196
18	8122232	T	C	18	8122234	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0255974694697583	0.102
18	8122232	T	G	18	8122234	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0305896901318045	0.146
18	8122233	G	A	18	8122235	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0045204461054641	0.036
18	8122233	G	C	18	8122235	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00507812376669703	0.04
18	8122233	G	T	18	8122235	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00439883050586627	0.036
18	8122234	C	A	18	8122236	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0357573328857635	0.086
18	8122234	C	G	18	8122236	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0410793819238282	0.082
18	8122234	C	T	18	8122236	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.042740114834783	0.086
18	8122235	C	A	18	8122237	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.101747750884609	0.238
18	8122235	C	G	18	8122237	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0861748975146968	0.172
18	8122235	C	T	18	8122237	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.17477320534835	0.302
18	8122236	T	A	18	8122238	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.17503189594235E-4	0.004
18	8122236	T	C	18	8122238	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.40455273620508E-4	0.01
18	8122236	T	G	18	8122238	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.17503189594235E-4	0.01
18	8122237	T	A	18	8122239	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.222386838235996	0.448
18	8122237	T	C	18	8122239	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.104557125287749	0.278
18	8122237	T	G	18	8122239	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.222386838235996	0.286
18	8122238	A	C	18	8122240	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.586-2A>C)	.	.	0.924282330812132	0.782
18	8122238	A	G	18	8122240	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.586-2A>G)	.	.	0.924282330812132	0.782
18	8122238	A	T	18	8122240	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.586-2A>T)	.	.	0.943420802424773	0.828
18	8122239	G	A	18	8122241	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.586-1G>A)	.	.	0.995030058536757	0.92
18	8122239	G	C	18	8122241	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.586-1G>C)	.	.	0.995030058536757	0.894
18	8122239	G	T	18	8122241	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.586-1G>T)	.	.	0.995030058536757	0.898
18	8122240	C	A	18	8122242	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.876130190174501	0.732
18	8122240	C	G	18	8122242	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.876130190174501	0.732
18	8122240	C	T	18	8122242	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.972710711965371	0.832
18	8122241	T	A	18	8122243	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.00220285109689569	0.036
18	8122241	T	C	18	8122243	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	7.15838005414123E-4	0.008
18	8122241	T	G	18	8122243	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	7.15838005414123E-4	0.008
18	8122312	C	A	18	8122314	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.876130190174501	0.732
18	8122312	C	G	18	8122314	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.101747750884609	0.242
18	8122312	C	T	18	8122314	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.610175718888826	0.354
18	8122313	A	C	18	8122315	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.345393001444105	0.584
18	8122313	A	G	18	8122315	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.345393001444105	0.566
18	8122313	A	T	18	8122315	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.474349078336576	0.552
18	8122314	G	A	18	8122316	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.00409062928811631	0.038
18	8122314	G	C	18	8122316	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0045204461054641	0.036
18	8122314	G	T	18	8122316	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.564529072693918	0.664
18	8122315	G	A	18	8122317	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.660+1G>A)	.	.	0.994463269283841	0.928
18	8122315	G	C	18	8122317	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.660+1G>C)	.	.	0.995030058536757	0.9
18	8122315	G	T	18	8122317	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.660+1G>T)	.	.	0.994463269283841	0.92
18	8122316	T	A	18	8122318	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.660+2T>A)	.	.	0.943420802424773	0.834
18	8122316	T	C	18	8122318	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.660+2T>C)	.	.	0.943420802424773	0.824
18	8122316	T	G	18	8122318	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583289:exon5:c.660+2T>G)	.	.	0.943420802424773	0.828
18	8122317	C	A	18	8122319	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.923645538223766	0.686
18	8122317	C	G	18	8122319	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.793118250434253	0.7
18	8122317	C	T	18	8122319	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.923645538223766	0.688
18	8122318	A	C	18	8122320	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.474349078336576	0.588
18	8122318	A	G	18	8122320	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.474349078336576	0.588
18	8122318	A	T	18	8122320	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.674422720501338	0.694
18	8122319	G	A	18	8122321	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.923645538223766	0.686
18	8122319	G	C	18	8122321	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.793118250434253	0.616
18	8122319	G	T	18	8122321	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.876130190174501	0.732
18	8122320	A	C	18	8122322	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.474349078336576	0.55
18	8122320	A	G	18	8122322	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.474349078336576	0.55
18	8122320	A	T	18	8122322	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.64565192434783	0.608
18	8122321	T	A	18	8122323	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.34434630829204E-4	0.026
18	8122321	T	C	18	8122323	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.92199090107184E-4	0.038
18	8122321	T	G	18	8122323	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.3314897114845E-4	0.08
18	8122322	G	A	18	8122324	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00123558539255655	0.02
18	8122322	G	C	18	8122324	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.76314105744779E-4	0.006
18	8122322	G	T	18	8122324	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.79792697849398E-4	0.002
18	8143633	T	A	18	8143635	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0316988037155411	0.188
18	8143633	T	C	18	8143635	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.22827207817551E-4	0.036
18	8143633	T	G	18	8143635	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.025544325324656	0.178
18	8143634	T	A	18	8143636	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.335415330907292	0.418
18	8143634	T	C	18	8143636	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.104545750956256	0.216
18	8143634	T	G	18	8143636	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.170756463746994	0.33
18	8143635	T	A	18	8143637	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0231251960622049	0.136
18	8143635	T	C	18	8143637	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.76085741019276E-4	0.01
18	8143635	T	G	18	8143637	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00303550979860759	0.13
18	8143636	C	A	18	8143638	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0111036977285794	0.102
18	8143636	C	G	18	8143638	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0281981094481595	0.1
18	8143636	C	T	18	8143638	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.27521704673128E-4	0.014
18	8143637	A	C	18	8143639	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.88608698032373E-5	0.004
18	8143637	A	G	18	8143639	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.54782190019833E-5	0.0
18	8143637	A	T	18	8143639	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.09063076767331E-5	0.0
18	8143638	T	A	18	8143640	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00177026430677457	0.094
18	8143638	T	C	18	8143640	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.24169960048724E-5	0.0
18	8143638	T	G	18	8143640	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999743553532086	0.992
18	8143639	C	A	18	8143641	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00106012290163036	0.088
18	8143639	C	G	18	8143641	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.09653394456637E-4	0.06
18	8143639	C	T	18	8143641	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.58424114292866E-5	0.018
18	8143640	T	A	18	8143642	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.12438294255095	0.348
18	8143640	T	C	18	8143642	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00227234319325426	0.02
18	8143640	T	G	18	8143642	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.622080210239667	0.392
18	8143641	T	A	18	8143643	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.20161912341808E-5	0.036
18	8143641	T	C	18	8143643	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.27106273267406E-5	0.048
18	8143641	T	G	18	8143643	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.35433862729545E-5	0.004
18	8143642	C	A	18	8143644	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.429578134667599	0.48
18	8143642	C	G	18	8143644	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.96559384139523	0.804
18	8143642	C	T	18	8143644	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.01227364802879E-4	0.022
18	8143643	A	C	18	8143645	y	y	splicing	PTPRM(NM_002845:exon14:c.2168-2A>C;NM_001105244:exon14:c.2168-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2168-2A>C;ENST00000580170:exon14:c.2168-2A>C;ENST00000400060:exon14:c.2168-2A>C;ENST00000400053:exon14:c.1982-2A>C;ENST00000444013:exon10:c.1529-2A>C;ENST00000583289:exon6:c.661-2A>C;ENST00000577468:exon3:c.227-2A>C)	.	.	0.999966203349492	0.936
18	8143643	A	G	18	8143645	y	y	splicing	PTPRM(NM_002845:exon14:c.2168-2A>G;NM_001105244:exon14:c.2168-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2168-2A>G;ENST00000580170:exon14:c.2168-2A>G;ENST00000400060:exon14:c.2168-2A>G;ENST00000400053:exon14:c.1982-2A>G;ENST00000444013:exon10:c.1529-2A>G;ENST00000583289:exon6:c.661-2A>G;ENST00000577468:exon3:c.227-2A>G)	.	.	0.999966203349492	0.94
18	8143643	A	T	18	8143645	y	y	splicing	PTPRM(NM_002845:exon14:c.2168-2A>T;NM_001105244:exon14:c.2168-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2168-2A>T;ENST00000580170:exon14:c.2168-2A>T;ENST00000400060:exon14:c.2168-2A>T;ENST00000400053:exon14:c.1982-2A>T;ENST00000444013:exon10:c.1529-2A>T;ENST00000583289:exon6:c.661-2A>T;ENST00000577468:exon3:c.227-2A>T)	.	.	0.999966203349492	0.928
18	8143644	G	A	18	8143646	y	y	splicing	PTPRM(NM_002845:exon14:c.2168-1G>A;NM_001105244:exon14:c.2168-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2168-1G>A;ENST00000580170:exon14:c.2168-1G>A;ENST00000400060:exon14:c.2168-1G>A;ENST00000400053:exon14:c.1982-1G>A;ENST00000444013:exon10:c.1529-1G>A;ENST00000583289:exon6:c.661-1G>A;ENST00000577468:exon3:c.227-1G>A)	.	.	0.999990361384395	0.928
18	8143644	G	C	18	8143646	y	y	splicing	PTPRM(NM_002845:exon14:c.2168-1G>C;NM_001105244:exon14:c.2168-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2168-1G>C;ENST00000580170:exon14:c.2168-1G>C;ENST00000400060:exon14:c.2168-1G>C;ENST00000400053:exon14:c.1982-1G>C;ENST00000444013:exon10:c.1529-1G>C;ENST00000583289:exon6:c.661-1G>C;ENST00000577468:exon3:c.227-1G>C)	.	.	0.999990361384395	0.938
18	8143644	G	T	18	8143646	y	y	splicing	PTPRM(NM_002845:exon14:c.2168-1G>T;NM_001105244:exon14:c.2168-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2168-1G>T;ENST00000580170:exon14:c.2168-1G>T;ENST00000400060:exon14:c.2168-1G>T;ENST00000400053:exon14:c.1982-1G>T;ENST00000444013:exon10:c.1529-1G>T;ENST00000583289:exon6:c.661-1G>T;ENST00000577468:exon3:c.227-1G>T)	.	.	0.999990361384395	0.938
18	8143645	G	A	18	8143647	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.G2168A:p.G723E;PTPRM:NM_001105244:exon14:c.G2168A:p.G723E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.G2168A:p.G723E;ENSG00000173482:ENST00000580170:exon14:c.G2168A:p.G723E;ENSG00000173482:ENST00000400060:exon14:c.G2168A:p.G723E;ENSG00000173482:ENST00000444013:exon10:c.G1529A:p.G510E;ENSG00000173482:ENST00000400053:exon14:c.G1982A:p.G661E;ENSG00000173482:ENST00000577468:exon3:c.G227A:p.G76E;	0.999016904172452	0.932
18	8143645	G	C	18	8143647	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.G2168C:p.G723A;PTPRM:NM_001105244:exon14:c.G2168C:p.G723A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.G2168C:p.G723A;ENSG00000173482:ENST00000580170:exon14:c.G2168C:p.G723A;ENSG00000173482:ENST00000400060:exon14:c.G2168C:p.G723A;ENSG00000173482:ENST00000444013:exon10:c.G1529C:p.G510A;ENSG00000173482:ENST00000400053:exon14:c.G1982C:p.G661A;ENSG00000173482:ENST00000577468:exon3:c.G227C:p.G76A;	0.978187527198675	0.67
18	8143645	G	T	18	8143647	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.G2168T:p.G723V;PTPRM:NM_001105244:exon14:c.G2168T:p.G723V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.G2168T:p.G723V;ENSG00000173482:ENST00000580170:exon14:c.G2168T:p.G723V;ENSG00000173482:ENST00000400060:exon14:c.G2168T:p.G723V;ENSG00000173482:ENST00000444013:exon10:c.G1529T:p.G510V;ENSG00000173482:ENST00000400053:exon14:c.G1982T:p.G661V;ENSG00000173482:ENST00000577468:exon3:c.G227T:p.G76V;	0.999860820667327	0.982
18	8143646	A	C	18	8143648	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon14:c.A2169C:p.G723G;PTPRM:NM_001105244:exon14:c.A2169C:p.G723G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2169C:p.G723G;ENSG00000173482:ENST00000580170:exon14:c.A2169C:p.G723G;ENSG00000173482:ENST00000400060:exon14:c.A2169C:p.G723G;ENSG00000173482:ENST00000444013:exon10:c.A1530C:p.G510G;ENSG00000173482:ENST00000400053:exon14:c.A1983C:p.G661G;ENSG00000173482:ENST00000577468:exon3:c.A228C:p.G76G;	2.23727884008129E-4	0.006
18	8143646	A	G	18	8143648	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon14:c.A2169G:p.G723G;PTPRM:NM_001105244:exon14:c.A2169G:p.G723G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2169G:p.G723G;ENSG00000173482:ENST00000580170:exon14:c.A2169G:p.G723G;ENSG00000173482:ENST00000400060:exon14:c.A2169G:p.G723G;ENSG00000173482:ENST00000444013:exon10:c.A1530G:p.G510G;ENSG00000173482:ENST00000400053:exon14:c.A1983G:p.G661G;ENSG00000173482:ENST00000577468:exon3:c.A228G:p.G76G;	9.95837882879864E-5	0.034
18	8143646	A	T	18	8143648	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon14:c.A2169T:p.G723G;PTPRM:NM_001105244:exon14:c.A2169T:p.G723G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2169T:p.G723G;ENSG00000173482:ENST00000580170:exon14:c.A2169T:p.G723G;ENSG00000173482:ENST00000400060:exon14:c.A2169T:p.G723G;ENSG00000173482:ENST00000444013:exon10:c.A1530T:p.G510G;ENSG00000173482:ENST00000400053:exon14:c.A1983T:p.G661G;ENSG00000173482:ENST00000577468:exon3:c.A228T:p.G76G;	3.92759986006861E-5	0.002
18	8143775	A	C	18	8143777	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.A2298C:p.K766N;PTPRM:NM_001105244:exon14:c.A2298C:p.K766N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2298C:p.K766N;ENSG00000173482:ENST00000580170:exon14:c.A2298C:p.K766N;ENSG00000173482:ENST00000400060:exon14:c.A2298C:p.K766N;ENSG00000173482:ENST00000444013:exon10:c.A1659C:p.K553N;ENSG00000173482:ENST00000400053:exon14:c.A2112C:p.K704N;ENSG00000173482:ENST00000577468:exon3:c.A357C:p.K119N;	0.00910972215431618	0.172
18	8143775	A	G	18	8143777	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon14:c.A2298G:p.K766K;PTPRM:NM_001105244:exon14:c.A2298G:p.K766K;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2298G:p.K766K;ENSG00000173482:ENST00000580170:exon14:c.A2298G:p.K766K;ENSG00000173482:ENST00000400060:exon14:c.A2298G:p.K766K;ENSG00000173482:ENST00000444013:exon10:c.A1659G:p.K553K;ENSG00000173482:ENST00000400053:exon14:c.A2112G:p.K704K;ENSG00000173482:ENST00000577468:exon3:c.A357G:p.K119K;	0.00121957638880451	0.008
18	8143775	A	T	18	8143777	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.A2298T:p.K766N;PTPRM:NM_001105244:exon14:c.A2298T:p.K766N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2298T:p.K766N;ENSG00000173482:ENST00000580170:exon14:c.A2298T:p.K766N;ENSG00000173482:ENST00000400060:exon14:c.A2298T:p.K766N;ENSG00000173482:ENST00000444013:exon10:c.A1659T:p.K553N;ENSG00000173482:ENST00000400053:exon14:c.A2112T:p.K704N;ENSG00000173482:ENST00000577468:exon3:c.A357T:p.K119N;	0.337450377480745	0.448
18	8143776	A	C	18	8143778	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon14:c.A2299C:p.R767R;PTPRM:NM_001105244:exon14:c.A2299C:p.R767R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2299C:p.R767R;ENSG00000173482:ENST00000580170:exon14:c.A2299C:p.R767R;ENSG00000173482:ENST00000400060:exon14:c.A2299C:p.R767R;ENSG00000173482:ENST00000444013:exon10:c.A1660C:p.R554R;ENSG00000173482:ENST00000400053:exon14:c.A2113C:p.R705R;ENSG00000173482:ENST00000577468:exon3:c.A358C:p.R120R;	0.900641807822104	0.69
18	8143776	A	G	18	8143778	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.A2299G:p.R767G;PTPRM:NM_001105244:exon14:c.A2299G:p.R767G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2299G:p.R767G;ENSG00000173482:ENST00000580170:exon14:c.A2299G:p.R767G;ENSG00000173482:ENST00000400060:exon14:c.A2299G:p.R767G;ENSG00000173482:ENST00000444013:exon10:c.A1660G:p.R554G;ENSG00000173482:ENST00000400053:exon14:c.A2113G:p.R705G;ENSG00000173482:ENST00000577468:exon3:c.A358G:p.R120G;	0.999036149543209	0.98
18	8143776	A	T	18	8143778	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.A2299T:p.R767W;PTPRM:NM_001105244:exon14:c.A2299T:p.R767W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.A2299T:p.R767W;ENSG00000173482:ENST00000580170:exon14:c.A2299T:p.R767W;ENSG00000173482:ENST00000400060:exon14:c.A2299T:p.R767W;ENSG00000173482:ENST00000444013:exon10:c.A1660T:p.R554W;ENSG00000173482:ENST00000400053:exon14:c.A2113T:p.R705W;ENSG00000173482:ENST00000577468:exon3:c.A358T:p.R120W;	0.997365928679517	0.93
18	8143777	G	A	18	8143779	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.G2300A:p.R767K;PTPRM:NM_001105244:exon14:c.G2300A:p.R767K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.G2300A:p.R767K;ENSG00000173482:ENST00000580170:exon14:c.G2300A:p.R767K;ENSG00000173482:ENST00000400060:exon14:c.G2300A:p.R767K;ENSG00000173482:ENST00000444013:exon10:c.G1661A:p.R554K;ENSG00000173482:ENST00000400053:exon14:c.G2114A:p.R705K;ENSG00000173482:ENST00000577468:exon3:c.G359A:p.R120K;	0.999975034631235	0.998
18	8143777	G	C	18	8143779	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.G2300C:p.R767T;PTPRM:NM_001105244:exon14:c.G2300C:p.R767T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.G2300C:p.R767T;ENSG00000173482:ENST00000580170:exon14:c.G2300C:p.R767T;ENSG00000173482:ENST00000400060:exon14:c.G2300C:p.R767T;ENSG00000173482:ENST00000444013:exon10:c.G1661C:p.R554T;ENSG00000173482:ENST00000400053:exon14:c.G2114C:p.R705T;ENSG00000173482:ENST00000577468:exon3:c.G359C:p.R120T;	0.99999538556915	0.964
18	8143777	G	T	18	8143779	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon14:c.G2300T:p.R767M;PTPRM:NM_001105244:exon14:c.G2300T:p.R767M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon14:c.G2300T:p.R767M;ENSG00000173482:ENST00000580170:exon14:c.G2300T:p.R767M;ENSG00000173482:ENST00000400060:exon14:c.G2300T:p.R767M;ENSG00000173482:ENST00000444013:exon10:c.G1661T:p.R554M;ENSG00000173482:ENST00000400053:exon14:c.G2114T:p.R705M;ENSG00000173482:ENST00000577468:exon3:c.G359T:p.R120M;	0.999973147473037	0.988
18	8143778	G	A	18	8143780	y	y	splicing	PTPRM(NM_002845:exon14:c.2300+1G>A;NM_001105244:exon14:c.2300+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2300+1G>A;ENST00000580170:exon14:c.2300+1G>A;ENST00000400060:exon14:c.2300+1G>A;ENST00000400053:exon14:c.2114+1G>A;ENST00000444013:exon10:c.1661+1G>A;ENST00000577468:exon3:c.359+1G>A)	.	.	0.999990361384395	0.938
18	8143778	G	C	18	8143780	y	y	splicing	PTPRM(NM_002845:exon14:c.2300+1G>C;NM_001105244:exon14:c.2300+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2300+1G>C;ENST00000580170:exon14:c.2300+1G>C;ENST00000400060:exon14:c.2300+1G>C;ENST00000400053:exon14:c.2114+1G>C;ENST00000444013:exon10:c.1661+1G>C;ENST00000577468:exon3:c.359+1G>C)	.	.	0.999990361384395	0.938
18	8143778	G	T	18	8143780	y	y	splicing	PTPRM(NM_002845:exon14:c.2300+1G>T;NM_001105244:exon14:c.2300+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2300+1G>T;ENST00000580170:exon14:c.2300+1G>T;ENST00000400060:exon14:c.2300+1G>T;ENST00000400053:exon14:c.2114+1G>T;ENST00000444013:exon10:c.1661+1G>T;ENST00000577468:exon3:c.359+1G>T)	.	.	0.999990361384395	0.938
18	8143779	T	A	18	8143781	y	y	splicing	PTPRM(NM_002845:exon14:c.2300+2T>A;NM_001105244:exon14:c.2300+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2300+2T>A;ENST00000580170:exon14:c.2300+2T>A;ENST00000400060:exon14:c.2300+2T>A;ENST00000400053:exon14:c.2114+2T>A;ENST00000444013:exon10:c.1661+2T>A;ENST00000577468:exon3:c.359+2T>A)	.	.	0.999988247793601	0.932
18	8143779	T	C	18	8143781	y	y	splicing	PTPRM(NM_002845:exon14:c.2300+2T>C;NM_001105244:exon14:c.2300+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2300+2T>C;ENST00000580170:exon14:c.2300+2T>C;ENST00000400060:exon14:c.2300+2T>C;ENST00000400053:exon14:c.2114+2T>C;ENST00000444013:exon10:c.1661+2T>C;ENST00000577468:exon3:c.359+2T>C)	.	.	0.999929727175276	0.868
18	8143779	T	G	18	8143781	y	y	splicing	PTPRM(NM_002845:exon14:c.2300+2T>G;NM_001105244:exon14:c.2300+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon14:c.2300+2T>G;ENST00000580170:exon14:c.2300+2T>G;ENST00000400060:exon14:c.2300+2T>G;ENST00000400053:exon14:c.2114+2T>G;ENST00000444013:exon10:c.1661+2T>G;ENST00000577468:exon3:c.359+2T>G)	.	.	0.999988247793601	0.932
18	8143780	G	A	18	8143782	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.10261755594663E-5	0.0
18	8143780	G	C	18	8143782	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.290038097343095	0.616
18	8143780	G	T	18	8143782	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.661888219104795	0.496
18	8143781	A	C	18	8143783	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.596321359312136	0.42
18	8143781	A	G	18	8143783	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.759569547931287	0.464
18	8143781	A	T	18	8143783	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.96219062887356	0.604
18	8143782	G	A	18	8143784	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999302444976646	0.92
18	8143782	G	C	18	8143784	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999603804281851	0.836
18	8143782	G	T	18	8143784	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999295738592167	0.906
18	8143783	C	A	18	8143785	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.18149727011068E-5	0.01
18	8143783	C	G	18	8143785	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.37998854075867E-4	0.036
18	8143783	C	T	18	8143785	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.64688241785154E-5	0.002
18	8143784	T	A	18	8143786	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.57368379873993E-6	0.002
18	8143784	T	C	18	8143786	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.57368379873993E-6	0.0
18	8143784	T	G	18	8143786	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.57368379873993E-6	0.0
18	8143785	C	A	18	8143787	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.78590332352171E-5	0.044
18	8143785	C	G	18	8143787	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.78590332352171E-5	0.044
18	8143785	C	T	18	8143787	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.78590332352171E-5	0.008
18	8244044	C	A	18	8244046	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.617242731040063	0.42
18	8244044	C	G	18	8244046	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.467989236216481	0.348
18	8244044	C	T	18	8244046	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.373406731346803	0.53
18	8244045	T	A	18	8244047	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.993264620143636	0.802
18	8244045	T	C	18	8244047	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.960486827487394	0.602
18	8244045	T	G	18	8244047	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.988571071700226	0.79
18	8244046	T	A	18	8244048	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.92849988797529E-4	0.272
18	8244046	T	C	18	8244048	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.71962042454514E-4	0.154
18	8244046	T	G	18	8244048	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00568599101499311	0.212
18	8244047	T	A	18	8244049	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.14975400881553	0.316
18	8244047	T	C	18	8244049	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0448062338479154	0.142
18	8244047	T	G	18	8244049	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.69761457696155	0.406
18	8244048	A	C	18	8244050	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.97547866531035E-5	0.024
18	8244048	A	G	18	8244050	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.67854257795102E-4	0.024
18	8244048	A	T	18	8244050	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.59685722206827E-5	0.016
18	8244049	T	A	18	8244051	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.960544763462971	0.638
18	8244049	T	C	18	8244051	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.152196515390912	0.44
18	8244049	T	G	18	8244051	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999902366927531	0.972
18	8244050	C	A	18	8244052	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0982317802858729	0.32
18	8244050	C	G	18	8244052	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.491120622050498	0.342
18	8244050	C	T	18	8244052	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.83891662139593E-4	0.03
18	8244051	C	A	18	8244053	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0922253885264797	0.358
18	8244051	C	G	18	8244053	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.517212289986572	0.372
18	8244051	C	T	18	8244053	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.9111179821725E-5	0.08
18	8244052	T	A	18	8244054	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.12632284075084E-5	0.028
18	8244052	T	C	18	8244054	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.94667169143859E-5	0.096
18	8244052	T	G	18	8244054	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.05488521363309E-5	0.01
18	8244053	A	C	18	8244055	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00435920197387276	0.208
18	8244053	A	G	18	8244055	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.931905575349575	0.488
18	8244053	A	T	18	8244055	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0118514280356379	0.276
18	8244054	A	C	18	8244056	y	y	splicing	PTPRM(NM_002845:exon15:c.2301-2A>C;NM_001105244:exon15:c.2301-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2301-2A>C;ENST00000580170:exon15:c.2301-2A>C;ENST00000400060:exon15:c.2301-2A>C;ENST00000400053:exon15:c.2115-2A>C;ENST00000444013:exon11:c.1662-2A>C;ENST00000577468:exon4:c.360-2A>C)	.	.	0.999986741007567	0.936
18	8244054	A	G	18	8244056	y	y	splicing	PTPRM(NM_002845:exon15:c.2301-2A>G;NM_001105244:exon15:c.2301-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2301-2A>G;ENST00000580170:exon15:c.2301-2A>G;ENST00000400060:exon15:c.2301-2A>G;ENST00000400053:exon15:c.2115-2A>G;ENST00000444013:exon11:c.1662-2A>G;ENST00000577468:exon4:c.360-2A>G)	.	.	0.999986741007567	0.936
18	8244054	A	T	18	8244056	y	y	splicing	PTPRM(NM_002845:exon15:c.2301-2A>T;NM_001105244:exon15:c.2301-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2301-2A>T;ENST00000580170:exon15:c.2301-2A>T;ENST00000400060:exon15:c.2301-2A>T;ENST00000400053:exon15:c.2115-2A>T;ENST00000444013:exon11:c.1662-2A>T;ENST00000577468:exon4:c.360-2A>T)	.	.	0.999986741007567	0.936
18	8244055	G	A	18	8244057	y	y	splicing	PTPRM(NM_002845:exon15:c.2301-1G>A;NM_001105244:exon15:c.2301-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2301-1G>A;ENST00000580170:exon15:c.2301-1G>A;ENST00000400060:exon15:c.2301-1G>A;ENST00000400053:exon15:c.2115-1G>A;ENST00000444013:exon11:c.1662-1G>A;ENST00000577468:exon4:c.360-1G>A)	.	.	0.999987670894945	0.94
18	8244055	G	C	18	8244057	y	y	splicing	PTPRM(NM_002845:exon15:c.2301-1G>C;NM_001105244:exon15:c.2301-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2301-1G>C;ENST00000580170:exon15:c.2301-1G>C;ENST00000400060:exon15:c.2301-1G>C;ENST00000400053:exon15:c.2115-1G>C;ENST00000444013:exon11:c.1662-1G>C;ENST00000577468:exon4:c.360-1G>C)	.	.	0.999987670894945	0.94
18	8244055	G	T	18	8244057	y	y	splicing	PTPRM(NM_002845:exon15:c.2301-1G>T;NM_001105244:exon15:c.2301-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2301-1G>T;ENST00000580170:exon15:c.2301-1G>T;ENST00000400060:exon15:c.2301-1G>T;ENST00000400053:exon15:c.2115-1G>T;ENST00000444013:exon11:c.1662-1G>T;ENST00000577468:exon4:c.360-1G>T)	.	.	0.999987670894945	0.94
18	8244056	G	A	18	8244058	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon15:c.G2301A:p.R767R;PTPRM:NM_001105244:exon15:c.G2301A:p.R767R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.G2301A:p.R767R;ENSG00000173482:ENST00000580170:exon15:c.G2301A:p.R767R;ENSG00000173482:ENST00000400060:exon15:c.G2301A:p.R767R;ENSG00000173482:ENST00000444013:exon11:c.G1662A:p.R554R;ENSG00000173482:ENST00000400053:exon15:c.G2115A:p.R705R;ENSG00000173482:ENST00000577468:exon4:c.G360A:p.R120R;	0.999537829536223	0.856
18	8244056	G	C	18	8244058	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.G2301C:p.R767S;PTPRM:NM_001105244:exon15:c.G2301C:p.R767S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.G2301C:p.R767S;ENSG00000173482:ENST00000580170:exon15:c.G2301C:p.R767S;ENSG00000173482:ENST00000400060:exon15:c.G2301C:p.R767S;ENSG00000173482:ENST00000444013:exon11:c.G1662C:p.R554S;ENSG00000173482:ENST00000400053:exon15:c.G2115C:p.R705S;ENSG00000173482:ENST00000577468:exon4:c.G360C:p.R120S;	0.99994148147368	0.964
18	8244056	G	T	18	8244058	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.G2301T:p.R767S;PTPRM:NM_001105244:exon15:c.G2301T:p.R767S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.G2301T:p.R767S;ENSG00000173482:ENST00000580170:exon15:c.G2301T:p.R767S;ENSG00000173482:ENST00000400060:exon15:c.G2301T:p.R767S;ENSG00000173482:ENST00000444013:exon11:c.G1662T:p.R554S;ENSG00000173482:ENST00000400053:exon15:c.G2115T:p.R705S;ENSG00000173482:ENST00000577468:exon4:c.G360T:p.R120S;	0.999964513739415	0.984
18	8244057	A	C	18	8244059	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.A2302C:p.K768Q;PTPRM:NM_001105244:exon15:c.A2302C:p.K768Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.A2302C:p.K768Q;ENSG00000173482:ENST00000580170:exon15:c.A2302C:p.K768Q;ENSG00000173482:ENST00000400060:exon15:c.A2302C:p.K768Q;ENSG00000173482:ENST00000444013:exon11:c.A1663C:p.K555Q;ENSG00000173482:ENST00000400053:exon15:c.A2116C:p.K706Q;ENSG00000173482:ENST00000577468:exon4:c.A361C:p.K121Q;	0.719560034117555	0.722
18	8244057	A	G	18	8244059	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.A2302G:p.K768E;PTPRM:NM_001105244:exon15:c.A2302G:p.K768E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.A2302G:p.K768E;ENSG00000173482:ENST00000580170:exon15:c.A2302G:p.K768E;ENSG00000173482:ENST00000400060:exon15:c.A2302G:p.K768E;ENSG00000173482:ENST00000444013:exon11:c.A1663G:p.K555E;ENSG00000173482:ENST00000400053:exon15:c.A2116G:p.K706E;ENSG00000173482:ENST00000577468:exon4:c.A361G:p.K121E;	0.905712639033321	0.756
18	8244057	A	T	18	8244059	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon15:c.A2302T:p.K768X;PTPRM:NM_001105244:exon15:c.A2302T:p.K768X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon15:c.A2302T:p.K768X;ENSG00000173482:ENST00000580170:exon15:c.A2302T:p.K768X;ENSG00000173482:ENST00000400060:exon15:c.A2302T:p.K768X;ENSG00000173482:ENST00000444013:exon11:c.A1663T:p.K555X;ENSG00000173482:ENST00000400053:exon15:c.A2116T:p.K706X;ENSG00000173482:ENST00000577468:exon4:c.A361T:p.K121X;	0.824221295868608	0.788
18	8244205	G	A	18	8244207	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.G2450A:p.R817K;PTPRM:NM_001105244:exon15:c.G2450A:p.R817K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.G2450A:p.R817K;ENSG00000173482:ENST00000580170:exon15:c.G2450A:p.R817K;ENSG00000173482:ENST00000400060:exon15:c.G2450A:p.R817K;ENSG00000173482:ENST00000444013:exon11:c.G1811A:p.R604K;ENSG00000173482:ENST00000400053:exon15:c.G2264A:p.R755K;ENSG00000173482:ENST00000577468:exon4:c.G509A:p.R170K;	0.960049141871071	0.784
18	8244205	G	C	18	8244207	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.G2450C:p.R817T;PTPRM:NM_001105244:exon15:c.G2450C:p.R817T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.G2450C:p.R817T;ENSG00000173482:ENST00000580170:exon15:c.G2450C:p.R817T;ENSG00000173482:ENST00000400060:exon15:c.G2450C:p.R817T;ENSG00000173482:ENST00000444013:exon11:c.G1811C:p.R604T;ENSG00000173482:ENST00000400053:exon15:c.G2264C:p.R755T;ENSG00000173482:ENST00000577468:exon4:c.G509C:p.R170T;	0.954781236617208	0.754
18	8244205	G	T	18	8244207	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.G2450T:p.R817I;PTPRM:NM_001105244:exon15:c.G2450T:p.R817I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.G2450T:p.R817I;ENSG00000173482:ENST00000580170:exon15:c.G2450T:p.R817I;ENSG00000173482:ENST00000400060:exon15:c.G2450T:p.R817I;ENSG00000173482:ENST00000444013:exon11:c.G1811T:p.R604I;ENSG00000173482:ENST00000400053:exon15:c.G2264T:p.R755I;ENSG00000173482:ENST00000577468:exon4:c.G509T:p.R170I;	0.977701574594827	0.794
18	8244206	A	C	18	8244208	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.A2451C:p.R817S;PTPRM:NM_001105244:exon15:c.A2451C:p.R817S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.A2451C:p.R817S;ENSG00000173482:ENST00000580170:exon15:c.A2451C:p.R817S;ENSG00000173482:ENST00000400060:exon15:c.A2451C:p.R817S;ENSG00000173482:ENST00000444013:exon11:c.A1812C:p.R604S;ENSG00000173482:ENST00000400053:exon15:c.A2265C:p.R755S;ENSG00000173482:ENST00000577468:exon4:c.A510C:p.R170S;	0.547366271469915	0.586
18	8244206	A	G	18	8244208	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon15:c.A2451G:p.R817R;PTPRM:NM_001105244:exon15:c.A2451G:p.R817R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.A2451G:p.R817R;ENSG00000173482:ENST00000580170:exon15:c.A2451G:p.R817R;ENSG00000173482:ENST00000400060:exon15:c.A2451G:p.R817R;ENSG00000173482:ENST00000444013:exon11:c.A1812G:p.R604R;ENSG00000173482:ENST00000400053:exon15:c.A2265G:p.R755R;ENSG00000173482:ENST00000577468:exon4:c.A510G:p.R170R;	0.119866842797822	0.392
18	8244206	A	T	18	8244208	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.A2451T:p.R817S;PTPRM:NM_001105244:exon15:c.A2451T:p.R817S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.A2451T:p.R817S;ENSG00000173482:ENST00000580170:exon15:c.A2451T:p.R817S;ENSG00000173482:ENST00000400060:exon15:c.A2451T:p.R817S;ENSG00000173482:ENST00000444013:exon11:c.A1812T:p.R604S;ENSG00000173482:ENST00000400053:exon15:c.A2265T:p.R755S;ENSG00000173482:ENST00000577468:exon4:c.A510T:p.R170S;	0.566341153253314	0.578
18	8244207	T	A	18	8244209	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.T2452A:p.S818T;PTPRM:NM_001105244:exon15:c.T2452A:p.S818T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.T2452A:p.S818T;ENSG00000173482:ENST00000580170:exon15:c.T2452A:p.S818T;ENSG00000173482:ENST00000400060:exon15:c.T2452A:p.S818T;ENSG00000173482:ENST00000444013:exon11:c.T1813A:p.S605T;ENSG00000173482:ENST00000400053:exon15:c.T2266A:p.S756T;ENSG00000173482:ENST00000577468:exon4:c.T511A:p.S171T;	0.00442979515187458	0.02
18	8244207	T	C	18	8244209	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.T2452C:p.S818P;PTPRM:NM_001105244:exon15:c.T2452C:p.S818P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.T2452C:p.S818P;ENSG00000173482:ENST00000580170:exon15:c.T2452C:p.S818P;ENSG00000173482:ENST00000400060:exon15:c.T2452C:p.S818P;ENSG00000173482:ENST00000444013:exon11:c.T1813C:p.S605P;ENSG00000173482:ENST00000400053:exon15:c.T2266C:p.S756P;ENSG00000173482:ENST00000577468:exon4:c.T511C:p.S171P;	0.200380690241659	0.466
18	8244207	T	G	18	8244209	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon15:c.T2452G:p.S818A;PTPRM:NM_001105244:exon15:c.T2452G:p.S818A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon15:c.T2452G:p.S818A;ENSG00000173482:ENST00000580170:exon15:c.T2452G:p.S818A;ENSG00000173482:ENST00000400060:exon15:c.T2452G:p.S818A;ENSG00000173482:ENST00000444013:exon11:c.T1813G:p.S605A;ENSG00000173482:ENST00000400053:exon15:c.T2266G:p.S756A;ENSG00000173482:ENST00000577468:exon4:c.T511G:p.S171A;	0.00129945238346861	0.05
18	8244208	G	A	18	8244210	y	y	splicing	PTPRM(NM_002845:exon15:c.2452+1G>A;NM_001105244:exon15:c.2452+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2452+1G>A;ENST00000580170:exon15:c.2452+1G>A;ENST00000400060:exon15:c.2452+1G>A;ENST00000400053:exon15:c.2266+1G>A;ENST00000444013:exon11:c.1813+1G>A;ENST00000577468:exon4:c.511+1G>A)	.	.	0.999989072007339	0.934
18	8244208	G	C	18	8244210	y	y	splicing	PTPRM(NM_002845:exon15:c.2452+1G>C;NM_001105244:exon15:c.2452+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2452+1G>C;ENST00000580170:exon15:c.2452+1G>C;ENST00000400060:exon15:c.2452+1G>C;ENST00000400053:exon15:c.2266+1G>C;ENST00000444013:exon11:c.1813+1G>C;ENST00000577468:exon4:c.511+1G>C)	.	.	0.999989072007339	0.934
18	8244208	G	T	18	8244210	y	y	splicing	PTPRM(NM_002845:exon15:c.2452+1G>T;NM_001105244:exon15:c.2452+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2452+1G>T;ENST00000580170:exon15:c.2452+1G>T;ENST00000400060:exon15:c.2452+1G>T;ENST00000400053:exon15:c.2266+1G>T;ENST00000444013:exon11:c.1813+1G>T;ENST00000577468:exon4:c.511+1G>T)	.	.	0.999989072007339	0.934
18	8244209	T	A	18	8244211	y	y	splicing	PTPRM(NM_002845:exon15:c.2452+2T>A;NM_001105244:exon15:c.2452+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2452+2T>A;ENST00000580170:exon15:c.2452+2T>A;ENST00000400060:exon15:c.2452+2T>A;ENST00000400053:exon15:c.2266+2T>A;ENST00000444013:exon11:c.1813+2T>A;ENST00000577468:exon4:c.511+2T>A)	.	.	0.999988247793601	0.928
18	8244209	T	C	18	8244211	y	y	splicing	PTPRM(NM_002845:exon15:c.2452+2T>C;NM_001105244:exon15:c.2452+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2452+2T>C;ENST00000580170:exon15:c.2452+2T>C;ENST00000400060:exon15:c.2452+2T>C;ENST00000400053:exon15:c.2266+2T>C;ENST00000444013:exon11:c.1813+2T>C;ENST00000577468:exon4:c.511+2T>C)	.	.	0.985752408902503	0.612
18	8244209	T	G	18	8244211	y	y	splicing	PTPRM(NM_002845:exon15:c.2452+2T>G;NM_001105244:exon15:c.2452+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon15:c.2452+2T>G;ENST00000580170:exon15:c.2452+2T>G;ENST00000400060:exon15:c.2452+2T>G;ENST00000400053:exon15:c.2266+2T>G;ENST00000444013:exon11:c.1813+2T>G;ENST00000577468:exon4:c.511+2T>G)	.	.	0.999988247793601	0.914
18	8244210	A	C	18	8244212	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999511863240489	0.83
18	8244210	A	G	18	8244212	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0110374550104116	0.248
18	8244210	A	T	18	8244212	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99975529704582	0.854
18	8244211	A	C	18	8244213	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997354379355358	0.906
18	8244211	A	G	18	8244213	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997383834799834	0.976
18	8244211	A	T	18	8244213	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998592789837928	0.926
18	8244212	G	A	18	8244214	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999884084423728	0.966
18	8244212	G	C	18	8244214	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998848211750586	0.95
18	8244212	G	T	18	8244214	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99996068398674	0.964
18	8244213	T	A	18	8244215	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.990210338972075	0.876
18	8244213	T	C	18	8244215	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.981791952296808	0.78
18	8244213	T	G	18	8244215	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.983514161937329	0.824
18	8244214	G	A	18	8244216	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.52559106735794E-4	0.002
18	8244214	G	C	18	8244216	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.97104693658708E-4	0.0
18	8244214	G	T	18	8244216	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.27482666104554E-4	0.0
18	8244215	C	A	18	8244217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.74108293950862E-5	0.0
18	8244215	C	G	18	8244217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.74108293950862E-5	0.0
18	8244215	C	T	18	8244217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.74108293950862E-5	0.0
18	8247831	T	A	18	8247833	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.34500105039874E-4	0.142
18	8247831	T	C	18	8247833	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.10602876327584E-4	0.004
18	8247831	T	G	18	8247833	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.99231223462254E-4	0.104
18	8247832	T	A	18	8247834	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0202332561838069	0.224
18	8247832	T	C	18	8247834	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.89949273773835E-4	0.07
18	8247832	T	G	18	8247834	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0104242604725827	0.174
18	8247833	T	A	18	8247835	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00231376707159723	0.126
18	8247833	T	C	18	8247835	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.72098136057646E-5	0.0
18	8247833	T	G	18	8247835	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.24644629444929E-4	0.12
18	8247834	T	A	18	8247836	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.74194914377093E-4	0.062
18	8247834	T	C	18	8247836	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.0579489560189E-4	0.0
18	8247834	T	G	18	8247836	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.39763711547688E-4	0.032
18	8247835	A	C	18	8247837	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.99034996818915E-6	0.04
18	8247835	A	G	18	8247837	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.31012846943693E-5	0.01
18	8247835	A	T	18	8247837	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.00209084647039E-6	0.018
18	8247836	T	A	18	8247838	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.63834803575E-4	0.034
18	8247836	T	C	18	8247838	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.56365251388854E-5	0.0
18	8247836	T	G	18	8247838	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996236635724849	0.988
18	8247837	T	A	18	8247839	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0106818008997999	0.112
18	8247837	T	C	18	8247839	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.0477393110086E-4	0.0
18	8247837	T	G	18	8247839	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00737581160393171	0.136
18	8247838	T	A	18	8247840	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0247372610104558	0.282
18	8247838	T	C	18	8247840	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.85462812833568E-4	0.026
18	8247838	T	G	18	8247840	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0381403176475726	0.252
18	8247839	A	C	18	8247841	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.56125322114822E-4	0.018
18	8247839	A	G	18	8247841	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.75372496451516E-5	0.022
18	8247839	A	T	18	8247841	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.92820782283838E-4	0.006
18	8247840	C	A	18	8247842	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999372967279071	0.84
18	8247840	C	G	18	8247842	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99996187021798	0.956
18	8247840	C	T	18	8247842	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.98795793969226	0.396
18	8247841	A	C	18	8247843	y	y	splicing	PTPRM(NM_002845:exon16:c.2453-2A>C;NM_001105244:exon16:c.2453-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2453-2A>C;ENST00000580170:exon16:c.2453-2A>C;ENST00000400060:exon16:c.2453-2A>C;ENST00000400053:exon16:c.2267-2A>C;ENST00000444013:exon12:c.1814-2A>C;ENST00000577468:exon5:c.512-2A>C)	.	.	0.999988247793601	0.932
18	8247841	A	G	18	8247843	y	y	splicing	PTPRM(NM_002845:exon16:c.2453-2A>G;NM_001105244:exon16:c.2453-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2453-2A>G;ENST00000580170:exon16:c.2453-2A>G;ENST00000400060:exon16:c.2453-2A>G;ENST00000400053:exon16:c.2267-2A>G;ENST00000444013:exon12:c.1814-2A>G;ENST00000577468:exon5:c.512-2A>G)	.	.	0.999988247793601	0.932
18	8247841	A	T	18	8247843	y	y	splicing	PTPRM(NM_002845:exon16:c.2453-2A>T;NM_001105244:exon16:c.2453-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2453-2A>T;ENST00000580170:exon16:c.2453-2A>T;ENST00000400060:exon16:c.2453-2A>T;ENST00000400053:exon16:c.2267-2A>T;ENST00000444013:exon12:c.1814-2A>T;ENST00000577468:exon5:c.512-2A>T)	.	.	0.999988247793601	0.93
18	8247842	G	A	18	8247844	y	y	splicing	PTPRM(NM_002845:exon16:c.2453-1G>A;NM_001105244:exon16:c.2453-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2453-1G>A;ENST00000580170:exon16:c.2453-1G>A;ENST00000400060:exon16:c.2453-1G>A;ENST00000400053:exon16:c.2267-1G>A;ENST00000444013:exon12:c.1814-1G>A;ENST00000577468:exon5:c.512-1G>A)	.	.	0.999990361384395	0.936
18	8247842	G	C	18	8247844	y	y	splicing	PTPRM(NM_002845:exon16:c.2453-1G>C;NM_001105244:exon16:c.2453-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2453-1G>C;ENST00000580170:exon16:c.2453-1G>C;ENST00000400060:exon16:c.2453-1G>C;ENST00000400053:exon16:c.2267-1G>C;ENST00000444013:exon12:c.1814-1G>C;ENST00000577468:exon5:c.512-1G>C)	.	.	0.999990361384395	0.936
18	8247842	G	T	18	8247844	y	y	splicing	PTPRM(NM_002845:exon16:c.2453-1G>T;NM_001105244:exon16:c.2453-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2453-1G>T;ENST00000580170:exon16:c.2453-1G>T;ENST00000400060:exon16:c.2453-1G>T;ENST00000400053:exon16:c.2267-1G>T;ENST00000444013:exon12:c.1814-1G>T;ENST00000577468:exon5:c.512-1G>T)	.	.	0.999990361384395	0.936
18	8247843	C	A	18	8247845	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.C2453A:p.S818Y;PTPRM:NM_001105244:exon16:c.C2453A:p.S818Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.C2453A:p.S818Y;ENSG00000173482:ENST00000580170:exon16:c.C2453A:p.S818Y;ENSG00000173482:ENST00000400060:exon16:c.C2453A:p.S818Y;ENSG00000173482:ENST00000444013:exon12:c.C1814A:p.S605Y;ENSG00000173482:ENST00000400053:exon16:c.C2267A:p.S756Y;ENSG00000173482:ENST00000577468:exon5:c.C512A:p.S171Y;	0.00139893727096122	0.06
18	8247843	C	G	18	8247845	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.C2453G:p.S818C;PTPRM:NM_001105244:exon16:c.C2453G:p.S818C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.C2453G:p.S818C;ENSG00000173482:ENST00000580170:exon16:c.C2453G:p.S818C;ENSG00000173482:ENST00000400060:exon16:c.C2453G:p.S818C;ENSG00000173482:ENST00000444013:exon12:c.C1814G:p.S605C;ENSG00000173482:ENST00000400053:exon16:c.C2267G:p.S756C;ENSG00000173482:ENST00000577468:exon5:c.C512G:p.S171C;	0.9641415237439	0.578
18	8247843	C	T	18	8247845	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.C2453T:p.S818F;PTPRM:NM_001105244:exon16:c.C2453T:p.S818F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.C2453T:p.S818F;ENSG00000173482:ENST00000580170:exon16:c.C2453T:p.S818F;ENSG00000173482:ENST00000400060:exon16:c.C2453T:p.S818F;ENSG00000173482:ENST00000444013:exon12:c.C1814T:p.S605F;ENSG00000173482:ENST00000400053:exon16:c.C2267T:p.S756F;ENSG00000173482:ENST00000577468:exon5:c.C512T:p.S171F;	0.0337896365965362	0.296
18	8247844	T	A	18	8247846	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon16:c.T2454A:p.S818S;PTPRM:NM_001105244:exon16:c.T2454A:p.S818S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.T2454A:p.S818S;ENSG00000173482:ENST00000580170:exon16:c.T2454A:p.S818S;ENSG00000173482:ENST00000400060:exon16:c.T2454A:p.S818S;ENSG00000173482:ENST00000444013:exon12:c.T1815A:p.S605S;ENSG00000173482:ENST00000400053:exon16:c.T2268A:p.S756S;ENSG00000173482:ENST00000577468:exon5:c.T513A:p.S171S;	2.90102629200589E-4	0.076
18	8247844	T	C	18	8247846	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon16:c.T2454C:p.S818S;PTPRM:NM_001105244:exon16:c.T2454C:p.S818S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.T2454C:p.S818S;ENSG00000173482:ENST00000580170:exon16:c.T2454C:p.S818S;ENSG00000173482:ENST00000400060:exon16:c.T2454C:p.S818S;ENSG00000173482:ENST00000444013:exon12:c.T1815C:p.S605S;ENSG00000173482:ENST00000400053:exon16:c.T2268C:p.S756S;ENSG00000173482:ENST00000577468:exon5:c.T513C:p.S171S;	3.50381976390181E-4	0.028
18	8247844	T	G	18	8247846	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon16:c.T2454G:p.S818S;PTPRM:NM_001105244:exon16:c.T2454G:p.S818S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.T2454G:p.S818S;ENSG00000173482:ENST00000580170:exon16:c.T2454G:p.S818S;ENSG00000173482:ENST00000400060:exon16:c.T2454G:p.S818S;ENSG00000173482:ENST00000444013:exon12:c.T1815G:p.S605S;ENSG00000173482:ENST00000400053:exon16:c.T2268G:p.S756S;ENSG00000173482:ENST00000577468:exon5:c.T513G:p.S171S;	1.1642859258092E-4	0.004
18	8247915	C	A	18	8247917	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.C2525A:p.P842Q;PTPRM:NM_001105244:exon16:c.C2525A:p.P842Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.C2525A:p.P842Q;ENSG00000173482:ENST00000580170:exon16:c.C2525A:p.P842Q;ENSG00000173482:ENST00000400060:exon16:c.C2525A:p.P842Q;ENSG00000173482:ENST00000444013:exon12:c.C1886A:p.P629Q;ENSG00000173482:ENST00000400053:exon16:c.C2339A:p.P780Q;ENSG00000173482:ENST00000577468:exon5:c.C584A:p.P195Q;	0.955706581494895	0.708
18	8247915	C	G	18	8247917	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.C2525G:p.P842R;PTPRM:NM_001105244:exon16:c.C2525G:p.P842R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.C2525G:p.P842R;ENSG00000173482:ENST00000580170:exon16:c.C2525G:p.P842R;ENSG00000173482:ENST00000400060:exon16:c.C2525G:p.P842R;ENSG00000173482:ENST00000444013:exon12:c.C1886G:p.P629R;ENSG00000173482:ENST00000400053:exon16:c.C2339G:p.P780R;ENSG00000173482:ENST00000577468:exon5:c.C584G:p.P195R;	0.9540060513507	0.618
18	8247915	C	T	18	8247917	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.C2525T:p.P842L;PTPRM:NM_001105244:exon16:c.C2525T:p.P842L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.C2525T:p.P842L;ENSG00000173482:ENST00000580170:exon16:c.C2525T:p.P842L;ENSG00000173482:ENST00000400060:exon16:c.C2525T:p.P842L;ENSG00000173482:ENST00000444013:exon12:c.C1886T:p.P629L;ENSG00000173482:ENST00000400053:exon16:c.C2339T:p.P780L;ENSG00000173482:ENST00000577468:exon5:c.C584T:p.P195L;	0.999857013999293	0.972
18	8247916	A	C	18	8247918	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon16:c.A2526C:p.P842P;PTPRM:NM_001105244:exon16:c.A2526C:p.P842P;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.A2526C:p.P842P;ENSG00000173482:ENST00000580170:exon16:c.A2526C:p.P842P;ENSG00000173482:ENST00000400060:exon16:c.A2526C:p.P842P;ENSG00000173482:ENST00000444013:exon12:c.A1887C:p.P629P;ENSG00000173482:ENST00000400053:exon16:c.A2340C:p.P780P;ENSG00000173482:ENST00000577468:exon5:c.A585C:p.P195P;	0.994863587769475	0.946
18	8247916	A	G	18	8247918	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon16:c.A2526G:p.P842P;PTPRM:NM_001105244:exon16:c.A2526G:p.P842P;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.A2526G:p.P842P;ENSG00000173482:ENST00000580170:exon16:c.A2526G:p.P842P;ENSG00000173482:ENST00000400060:exon16:c.A2526G:p.P842P;ENSG00000173482:ENST00000444013:exon12:c.A1887G:p.P629P;ENSG00000173482:ENST00000400053:exon16:c.A2340G:p.P780P;ENSG00000173482:ENST00000577468:exon5:c.A585G:p.P195P;	0.998542425404941	0.984
18	8247916	A	T	18	8247918	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon16:c.A2526T:p.P842P;PTPRM:NM_001105244:exon16:c.A2526T:p.P842P;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.A2526T:p.P842P;ENSG00000173482:ENST00000580170:exon16:c.A2526T:p.P842P;ENSG00000173482:ENST00000400060:exon16:c.A2526T:p.P842P;ENSG00000173482:ENST00000444013:exon12:c.A1887T:p.P629P;ENSG00000173482:ENST00000400053:exon16:c.A2340T:p.P780P;ENSG00000173482:ENST00000577468:exon5:c.A585T:p.P195P;	0.999421976563365	0.97
18	8247917	G	A	18	8247919	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.G2527A:p.D843N;PTPRM:NM_001105244:exon16:c.G2527A:p.D843N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.G2527A:p.D843N;ENSG00000173482:ENST00000580170:exon16:c.G2527A:p.D843N;ENSG00000173482:ENST00000400060:exon16:c.G2527A:p.D843N;ENSG00000173482:ENST00000444013:exon12:c.G1888A:p.D630N;ENSG00000173482:ENST00000400053:exon16:c.G2341A:p.D781N;ENSG00000173482:ENST00000577468:exon5:c.G586A:p.D196N;	0.999994825230111	1.0
18	8247917	G	C	18	8247919	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.G2527C:p.D843H;PTPRM:NM_001105244:exon16:c.G2527C:p.D843H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.G2527C:p.D843H;ENSG00000173482:ENST00000580170:exon16:c.G2527C:p.D843H;ENSG00000173482:ENST00000400060:exon16:c.G2527C:p.D843H;ENSG00000173482:ENST00000444013:exon12:c.G1888C:p.D630H;ENSG00000173482:ENST00000400053:exon16:c.G2341C:p.D781H;ENSG00000173482:ENST00000577468:exon5:c.G586C:p.D196H;	0.99999721398396	1.0
18	8247917	G	T	18	8247919	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon16:c.G2527T:p.D843Y;PTPRM:NM_001105244:exon16:c.G2527T:p.D843Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon16:c.G2527T:p.D843Y;ENSG00000173482:ENST00000580170:exon16:c.G2527T:p.D843Y;ENSG00000173482:ENST00000400060:exon16:c.G2527T:p.D843Y;ENSG00000173482:ENST00000444013:exon12:c.G1888T:p.D630Y;ENSG00000173482:ENST00000400053:exon16:c.G2341T:p.D781Y;ENSG00000173482:ENST00000577468:exon5:c.G586T:p.D196Y;	0.999992598779722	1.0
18	8247918	G	A	18	8247920	y	y	splicing	PTPRM(NM_002845:exon16:c.2527+1G>A;NM_001105244:exon16:c.2527+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2527+1G>A;ENST00000580170:exon16:c.2527+1G>A;ENST00000400060:exon16:c.2527+1G>A;ENST00000400053:exon16:c.2341+1G>A;ENST00000444013:exon12:c.1888+1G>A;ENST00000577468:exon5:c.586+1G>A)	.	.	0.999990361384395	0.938
18	8247918	G	C	18	8247920	y	y	splicing	PTPRM(NM_002845:exon16:c.2527+1G>C;NM_001105244:exon16:c.2527+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2527+1G>C;ENST00000580170:exon16:c.2527+1G>C;ENST00000400060:exon16:c.2527+1G>C;ENST00000400053:exon16:c.2341+1G>C;ENST00000444013:exon12:c.1888+1G>C;ENST00000577468:exon5:c.586+1G>C)	.	.	0.999990361384395	0.936
18	8247918	G	T	18	8247920	y	y	splicing	PTPRM(NM_002845:exon16:c.2527+1G>T;NM_001105244:exon16:c.2527+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2527+1G>T;ENST00000580170:exon16:c.2527+1G>T;ENST00000400060:exon16:c.2527+1G>T;ENST00000400053:exon16:c.2341+1G>T;ENST00000444013:exon12:c.1888+1G>T;ENST00000577468:exon5:c.586+1G>T)	.	.	0.999990361384395	0.936
18	8247919	T	A	18	8247921	y	y	splicing	PTPRM(NM_002845:exon16:c.2527+2T>A;NM_001105244:exon16:c.2527+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2527+2T>A;ENST00000580170:exon16:c.2527+2T>A;ENST00000400060:exon16:c.2527+2T>A;ENST00000400053:exon16:c.2341+2T>A;ENST00000444013:exon12:c.1888+2T>A;ENST00000577468:exon5:c.586+2T>A)	.	.	0.999988247793601	0.93
18	8247919	T	C	18	8247921	y	y	splicing	PTPRM(NM_002845:exon16:c.2527+2T>C;NM_001105244:exon16:c.2527+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2527+2T>C;ENST00000580170:exon16:c.2527+2T>C;ENST00000400060:exon16:c.2527+2T>C;ENST00000400053:exon16:c.2341+2T>C;ENST00000444013:exon12:c.1888+2T>C;ENST00000577468:exon5:c.586+2T>C)	.	.	0.994063255842726	0.694
18	8247919	T	G	18	8247921	y	y	splicing	PTPRM(NM_002845:exon16:c.2527+2T>G;NM_001105244:exon16:c.2527+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon16:c.2527+2T>G;ENST00000580170:exon16:c.2527+2T>G;ENST00000400060:exon16:c.2527+2T>G;ENST00000400053:exon16:c.2341+2T>G;ENST00000444013:exon12:c.1888+2T>G;ENST00000577468:exon5:c.586+2T>G)	.	.	0.999988247793601	0.93
18	8247920	A	C	18	8247922	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999863552481507	0.956
18	8247920	A	G	18	8247922	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999842341196326	0.98
18	8247920	A	T	18	8247922	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999931877163622	0.88
18	8247921	A	C	18	8247923	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.989756511570835	0.746
18	8247921	A	G	18	8247923	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.990654764809217	0.818
18	8247921	A	T	18	8247923	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996061956452297	0.88
18	8247922	C	A	18	8247924	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.709734497483384	0.688
18	8247922	C	G	18	8247924	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0814978696430727	0.194
18	8247922	C	T	18	8247924	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.90166675901709	0.576
18	8247923	A	C	18	8247925	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.71637864559465E-5	0.012
18	8247923	A	G	18	8247925	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.65701785291129E-5	0.0
18	8247923	A	T	18	8247925	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.29304138376207E-5	0.012
18	8247924	G	A	18	8247926	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00306014682010728	0.01
18	8247924	G	C	18	8247926	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0018230488955345	0.014
18	8247924	G	T	18	8247926	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.20835583262348E-4	0.012
18	8247925	T	A	18	8247927	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.69058192323419E-4	0.0
18	8247925	T	C	18	8247927	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.88755880198646E-4	0.052
18	8247925	T	G	18	8247927	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.29703580670949E-5	0.0
18	8248136	G	A	18	8248138	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999931991449965	0.928
18	8248136	G	C	18	8248138	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.974189557849037	0.762
18	8248136	G	T	18	8248138	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.976364225526815	0.732
18	8248137	G	A	18	8248139	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0010557835184447	0.17
18	8248137	G	C	18	8248139	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.10528596663506E-5	0.166
18	8248137	G	T	18	8248139	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.0638158327892E-5	0.214
18	8248138	T	A	18	8248140	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999934895464144	0.952
18	8248138	T	C	18	8248140	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.558030894232835	0.58
18	8248138	T	G	18	8248140	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99948344663268	0.9
18	8248139	G	A	18	8248141	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992835960912143	0.712
18	8248139	G	C	18	8248141	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.971136177948829	0.736
18	8248139	G	T	18	8248141	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.966175287804735	0.706
18	8248140	T	A	18	8248142	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.944419179189543	0.82
18	8248140	T	C	18	8248142	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0131048565800463	0.18
18	8248140	T	G	18	8248142	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.950419815939471	0.758
18	8248141	A	C	18	8248143	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.7166503729925E-4	0.018
18	8248141	A	G	18	8248143	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.44553507605114E-4	0.044
18	8248141	A	T	18	8248143	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.84159981526012E-4	0.032
18	8248142	T	A	18	8248144	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999828465758205	0.946
18	8248142	T	C	18	8248144	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0507751507777568	0.38
18	8248142	T	G	18	8248144	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999713665193673	0.952
18	8248143	G	A	18	8248145	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.87537656930638	0.62
18	8248143	G	C	18	8248145	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.225321219491756	0.382
18	8248143	G	T	18	8248145	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.317273662835375	0.394
18	8248144	A	C	18	8248146	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.50303487370452E-4	0.04
18	8248144	A	G	18	8248146	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.76255329728254E-5	0.018
18	8248144	A	T	18	8248146	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0063140255579576	0.064
18	8248145	C	A	18	8248147	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999994164108977	0.952
18	8248145	C	G	18	8248147	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999984959701027	0.97
18	8248145	C	T	18	8248147	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.989962280122463	0.408
18	8248146	A	C	18	8248148	y	y	splicing	PTPRM(NM_001105244:exon17:c.2528-2A>C)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2528-2A>C;ENST00000400060:exon17:c.2528-2A>C;ENST00000577468:exon6:c.587-2A>C)	.	.	0.999952590261929	0.912
18	8248146	A	G	18	8248148	y	y	splicing	PTPRM(NM_001105244:exon17:c.2528-2A>G)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2528-2A>G;ENST00000400060:exon17:c.2528-2A>G;ENST00000577468:exon6:c.587-2A>G)	.	.	0.999952590261929	0.912
18	8248146	A	T	18	8248148	y	y	splicing	PTPRM(NM_001105244:exon17:c.2528-2A>T)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2528-2A>T;ENST00000400060:exon17:c.2528-2A>T;ENST00000577468:exon6:c.587-2A>T)	.	.	0.999952590261929	0.914
18	8248147	G	A	18	8248149	y	y	splicing	PTPRM(NM_001105244:exon17:c.2528-1G>A)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2528-1G>A;ENST00000400060:exon17:c.2528-1G>A;ENST00000577468:exon6:c.587-1G>A)	.	.	0.999987086597256	0.908
18	8248147	G	C	18	8248149	y	y	splicing	PTPRM(NM_001105244:exon17:c.2528-1G>C)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2528-1G>C;ENST00000400060:exon17:c.2528-1G>C;ENST00000577468:exon6:c.587-1G>C)	.	.	0.999989295765589	0.908
18	8248147	G	T	18	8248149	y	y	splicing	PTPRM(NM_001105244:exon17:c.2528-1G>T)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2528-1G>T;ENST00000400060:exon17:c.2528-1G>T;ENST00000577468:exon6:c.587-1G>T)	.	.	0.999989295765589	0.908
18	8248148	A	C	18	8248150	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.A2528C:p.D843A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.A2528C:p.D843A;ENSG00000173482:ENST00000400060:exon17:c.A2528C:p.D843A;ENSG00000173482:ENST00000577468:exon6:c.A587C:p.D196A;	0.854233751796758	0.596
18	8248148	A	G	18	8248150	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.A2528G:p.D843G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.A2528G:p.D843G;ENSG00000173482:ENST00000400060:exon17:c.A2528G:p.D843G;ENSG00000173482:ENST00000577468:exon6:c.A587G:p.D196G;	0.741393615069773	0.47
18	8248148	A	T	18	8248150	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.A2528T:p.D843V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.A2528T:p.D843V;ENSG00000173482:ENST00000400060:exon17:c.A2528T:p.D843V;ENSG00000173482:ENST00000577468:exon6:c.A587T:p.D196V;	0.826663921238816	0.558
18	8248149	C	A	18	8248151	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.C2529A:p.D843E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.C2529A:p.D843E;ENSG00000173482:ENST00000400060:exon17:c.C2529A:p.D843E;ENSG00000173482:ENST00000577468:exon6:c.C588A:p.D196E;	4.30251799099745E-4	0.036
18	8248149	C	G	18	8248151	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.C2529G:p.D843E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.C2529G:p.D843E;ENSG00000173482:ENST00000400060:exon17:c.C2529G:p.D843E;ENSG00000173482:ENST00000577468:exon6:c.C588G:p.D196E;	1.86349365005078E-4	0.054
18	8248149	C	T	18	8248151	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_001105244:exon17:c.C2529T:p.D843D;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.C2529T:p.D843D;ENSG00000173482:ENST00000400060:exon17:c.C2529T:p.D843D;ENSG00000173482:ENST00000577468:exon6:c.C588T:p.D196D;	6.38435829328199E-4	0.112
18	8248172	T	A	18	8248174	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_001105244:exon17:c.T2552A:p.L851X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000580170:exon17:c.T2552A:p.L851X;ENSG00000173482:ENST00000400060:exon17:c.T2552A:p.L851X;ENSG00000173482:ENST00000577468:exon6:c.T611A:p.L204X;	0.80556754575428	0.78
18	8248172	T	C	18	8248174	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.T2552C:p.L851S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.T2552C:p.L851S;ENSG00000173482:ENST00000400060:exon17:c.T2552C:p.L851S;ENSG00000173482:ENST00000577468:exon6:c.T611C:p.L204S;	0.784603692598209	0.696
18	8248172	T	G	18	8248174	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_001105244:exon17:c.T2552G:p.L851X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000580170:exon17:c.T2552G:p.L851X;ENSG00000173482:ENST00000400060:exon17:c.T2552G:p.L851X;ENSG00000173482:ENST00000577468:exon6:c.T611G:p.L204X;	0.853953659024385	0.844
18	8248173	A	C	18	8248175	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.A2553C:p.L851F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.A2553C:p.L851F;ENSG00000173482:ENST00000400060:exon17:c.A2553C:p.L851F;ENSG00000173482:ENST00000577468:exon6:c.A612C:p.L204F;	0.985401175160881	0.9
18	8248173	A	G	18	8248175	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_001105244:exon17:c.A2553G:p.L851L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.A2553G:p.L851L;ENSG00000173482:ENST00000400060:exon17:c.A2553G:p.L851L;ENSG00000173482:ENST00000577468:exon6:c.A612G:p.L204L;	0.982730250064768	0.742
18	8248173	A	T	18	8248175	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.A2553T:p.L851F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.A2553T:p.L851F;ENSG00000173482:ENST00000400060:exon17:c.A2553T:p.L851F;ENSG00000173482:ENST00000577468:exon6:c.A612T:p.L204F;	0.996307974367172	0.918
18	8248174	G	A	18	8248176	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.G2554A:p.V852M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.G2554A:p.V852M;ENSG00000173482:ENST00000400060:exon17:c.G2554A:p.D852N;ENSG00000173482:ENST00000577468:exon6:c.G613A:p.E205K;	0.999987084778979	0.998
18	8248174	G	C	18	8248176	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.G2554C:p.V852L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon17:c.G2554C:p.V852L;ENSG00000173482:ENST00000400060:exon17:c.G2554C:p.D852H;ENSG00000173482:ENST00000577468:exon6:c.G613C:p.E205Q;	0.999997758162875	1.0
18	8248174	G	T	18	8248176	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon17:c.G2554T:p.V852L;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000577468:exon6:c.G613T:p.E205X;	0.999993989955739	0.998
18	8248175	G	A	18	8248177	y	y	splicing	PTPRM(NM_001105244:exon17:c.2554+1G>A)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2554+1G>A;ENST00000400060:exon17:c.2554+1G>A;ENST00000577468:exon6:c.613+1G>A)	.	.	0.999990361384395	0.938
18	8248175	G	C	18	8248177	y	y	splicing	PTPRM(NM_001105244:exon17:c.2554+1G>C)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2554+1G>C;ENST00000400060:exon17:c.2554+1G>C;ENST00000577468:exon6:c.613+1G>C)	.	.	0.999990361384395	0.938
18	8248175	G	T	18	8248177	y	y	splicing	PTPRM(NM_001105244:exon17:c.2554+1G>T)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2554+1G>T;ENST00000400060:exon17:c.2554+1G>T;ENST00000577468:exon6:c.613+1G>T)	.	.	0.999990361384395	0.938
18	8248176	T	A	18	8248178	y	y	splicing	PTPRM(NM_001105244:exon17:c.2554+2T>A)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2554+2T>A;ENST00000400060:exon17:c.2554+2T>A;ENST00000577468:exon6:c.613+2T>A)	.	.	0.999988247793601	0.932
18	8248176	T	C	18	8248178	y	y	splicing	PTPRM(NM_001105244:exon17:c.2554+2T>C)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2554+2T>C;ENST00000400060:exon17:c.2554+2T>C;ENST00000577468:exon6:c.613+2T>C)	.	.	0.999945827492243	0.86
18	8248176	T	G	18	8248178	y	y	splicing	PTPRM(NM_001105244:exon17:c.2554+2T>G)	.	.	splicing	ENSG00000173482(ENST00000580170:exon17:c.2554+2T>G;ENST00000400060:exon17:c.2554+2T>G;ENST00000577468:exon6:c.613+2T>G)	.	.	0.999988247793601	0.93
18	8248177	G	A	18	8248179	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.455867453137393	0.514
18	8248177	G	C	18	8248179	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999867544209122	0.928
18	8248177	G	T	18	8248179	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999426827334416	0.838
18	8248178	A	C	18	8248180	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998549745459006	0.916
18	8248178	A	G	18	8248180	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999428512862848	0.938
18	8248178	A	T	18	8248180	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999571856600216	0.89
18	8248179	G	A	18	8248181	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999928968492703	0.846
18	8248179	G	C	18	8248181	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999958361478828	0.94
18	8248179	G	T	18	8248181	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999912026623758	0.846
18	8248180	A	C	18	8248182	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.401515177734371	0.494
18	8248180	A	G	18	8248182	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.195349442082605	0.526
18	8248180	A	T	18	8248182	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.166122633234966	0.424
18	8248181	A	C	18	8248183	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.95350677510464E-4	0.006
18	8248181	A	G	18	8248183	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.58718331421231E-4	0.004
18	8248181	A	T	18	8248183	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00296179523471936	0.072
18	8248182	C	A	18	8248184	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.9892288438805E-4	0.008
18	8248182	C	G	18	8248184	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.90783894462196E-4	0.016
18	8248182	C	T	18	8248184	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.20029271452944E-4	0.004
18	8248324	A	C	18	8248326	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.37920769650778E-5	0.0
18	8248324	A	G	18	8248326	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.37920769650778E-5	0.0
18	8248324	A	T	18	8248326	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.37920769650778E-5	0.0
18	8248325	A	C	18	8248327	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.20570344446281E-5	0.06
18	8248325	A	G	18	8248327	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.20570344446281E-5	0.06
18	8248325	A	T	18	8248327	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.20570344446281E-5	0.06
18	8248326	G	A	18	8248328	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.97803045002226E-5	0.006
18	8248326	G	C	18	8248328	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.97803045002226E-5	0.006
18	8248326	G	T	18	8248328	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.97803045002226E-5	0.006
18	8248327	G	A	18	8248329	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.30504366202256E-5	0.01
18	8248327	G	C	18	8248329	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.30504366202256E-5	0.046
18	8248327	G	T	18	8248329	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.30504366202256E-5	0.046
18	8248328	A	C	18	8248330	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.61205237472919E-5	0.028
18	8248328	A	G	18	8248330	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.61205237472919E-5	0.028
18	8248328	A	T	18	8248330	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.61205237472919E-5	0.028
18	8248329	A	C	18	8248331	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.91342696912736E-5	0.028
18	8248329	A	G	18	8248331	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.91342696912736E-5	0.028
18	8248329	A	T	18	8248331	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.91342696912736E-5	0.028
18	8248330	A	C	18	8248332	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.01113710158293E-5	0.0
18	8248330	A	G	18	8248332	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.01113710158293E-5	0.0
18	8248330	A	T	18	8248332	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.01113710158293E-5	0.0
18	8248331	A	C	18	8248333	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.30042175902775E-5	0.002
18	8248331	A	G	18	8248333	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.30042175902775E-5	0.002
18	8248331	A	T	18	8248333	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.30042175902775E-5	0.004
18	8248332	A	C	18	8248334	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.39471642151905E-5	0.006
18	8248332	A	G	18	8248334	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.39471642151905E-5	0.004
18	8248332	A	T	18	8248334	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.39471642151905E-5	0.0
18	8248333	G	A	18	8248335	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.9852373194271E-5	0.008
18	8248333	G	C	18	8248335	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.799304274092E-5	0.01
18	8248333	G	T	18	8248335	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.9852373194271E-5	0.008
18	8248334	A	C	18	8248336	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2555-2A>C)	.	.	3.70552093357571E-5	0.018
18	8248334	A	G	18	8248336	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2555-2A>G)	.	.	3.70552093357571E-5	0.018
18	8248334	A	T	18	8248336	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2555-2A>T)	.	.	3.70552093357571E-5	0.018
18	8248335	G	A	18	8248337	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2555-1G>A)	.	.	4.71431443772555E-5	0.11
18	8248335	G	C	18	8248337	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2555-1G>C)	.	.	8.55009819724235E-5	0.112
18	8248335	G	T	18	8248337	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2555-1G>T)	.	.	8.55009819724235E-5	0.174
18	8248336	A	C	18	8248338	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2555C:p.D852A;	2.13105871323179E-5	0.034
18	8248336	A	G	18	8248338	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2555G:p.D852G;	3.55183766894313E-5	0.036
18	8248336	A	T	18	8248338	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2555T:p.D852V;	3.29172098833992E-5	0.034
18	8248337	C	A	18	8248339	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.C2556A:p.D852E;	2.18551054981151E-5	0.0
18	8248337	C	G	18	8248339	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.C2556G:p.D852E;	2.18551054981151E-5	0.0
18	8248337	C	T	18	8248339	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.C2556T:p.D852D;	4.83973668967028E-5	0.048
18	8248348	A	C	18	8248350	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2567C:p.N856T;	3.31475935412096E-5	0.052
18	8248348	A	G	18	8248350	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2567G:p.N856S;	3.31475935412096E-5	0.052
18	8248348	A	T	18	8248350	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2567T:p.N856I;	2.0086940530158E-5	0.0
18	8248349	C	A	18	8248351	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.C2568A:p.N856K;	5.72763949353882E-5	0.004
18	8248349	C	G	18	8248351	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.C2568G:p.N856K;	5.72763949353882E-5	0.004
18	8248349	C	T	18	8248351	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.C2568T:p.N856N;	2.02200901398846E-5	0.0
18	8248350	A	C	18	8248352	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2569C:p.N857H;	1.08103855812152E-5	0.02
18	8248350	A	G	18	8248352	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2569G:p.N857D;	1.97645374511987E-5	0.062
18	8248350	A	T	18	8248352	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000400060:exon18:c.A2569T:p.N857Y;	1.97645374511987E-5	0.018
18	8248351	G	A	18	8248353	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2569+1G>A)	.	.	1.71037163550947E-5	0.02
18	8248351	G	C	18	8248353	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2569+1G>C)	.	.	1.71037163550947E-5	0.02
18	8248351	G	T	18	8248353	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2569+1G>T)	.	.	1.71037163550947E-5	0.02
18	8248352	T	A	18	8248354	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2569+2T>A)	.	.	0.00113351354932708	0.022
18	8248352	T	C	18	8248354	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2569+2T>C)	.	.	0.00113351354932708	0.02
18	8248352	T	G	18	8248354	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000400060:exon18:c.2569+2T>G)	.	.	0.00113351354932708	0.02
18	8248353	C	A	18	8248355	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.58930095528958E-5	0.0
18	8248353	C	G	18	8248355	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.58930095528958E-5	0.0
18	8248353	C	T	18	8248355	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.51018776879091E-5	0.0
18	8248354	G	A	18	8248356	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.89861551796331E-5	0.0
18	8248354	G	C	18	8248356	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.89861551796331E-5	0.0
18	8248354	G	T	18	8248356	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.89861551796331E-5	0.0
18	8248355	C	A	18	8248357	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.89861551796331E-5	0.0
18	8248355	C	G	18	8248357	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.89861551796331E-5	0.0
18	8248355	C	T	18	8248357	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.89861551796331E-5	0.0
18	8248356	C	A	18	8248358	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.75258639471037E-5	0.014
18	8248356	C	G	18	8248358	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.75258639471037E-5	0.014
18	8248356	C	T	18	8248358	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.75258639471037E-5	0.014
18	8248357	A	C	18	8248359	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.94213144689977E-5	0.0
18	8248357	A	G	18	8248359	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.94213144689977E-5	0.0
18	8248357	A	T	18	8248359	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.94213144689977E-5	0.0
18	8248358	T	A	18	8248360	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.55416644405842E-5	0.002
18	8248358	T	C	18	8248360	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.55416644405842E-5	0.002
18	8248358	T	G	18	8248360	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.55416644405842E-5	0.002
18	8252474	T	A	18	8252476	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.634721618082458	0.68
18	8252474	T	C	18	8252476	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00156841585063624	0.064
18	8252474	T	G	18	8252476	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999281325544361	0.916
18	8252475	C	A	18	8252477	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.344760230455532	0.432
18	8252475	C	G	18	8252477	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.270180707154628	0.364
18	8252475	C	T	18	8252477	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00472577452951104	0.114
18	8252476	T	A	18	8252478	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.226100735782203	0.636
18	8252476	T	C	18	8252478	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.5913204263179E-4	0.056
18	8252476	T	G	18	8252478	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0326568084289148	0.498
18	8252477	T	A	18	8252479	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.920008776658605	0.72
18	8252477	T	C	18	8252479	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00129357917868865	0.024
18	8252477	T	G	18	8252479	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.603420825329122	0.622
18	8252478	C	A	18	8252480	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0309691289966626	0.268
18	8252478	C	G	18	8252480	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.051893596648471	0.264
18	8252478	C	T	18	8252480	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.32448173170866E-4	0.148
18	8252479	T	A	18	8252481	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.972837619872313	0.806
18	8252479	T	C	18	8252481	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00716872257535421	0.174
18	8252479	T	G	18	8252481	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.952019076011006	0.746
18	8252480	T	A	18	8252482	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.896695270551879	0.656
18	8252480	T	C	18	8252482	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00333234611436787	0.104
18	8252480	T	G	18	8252482	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.927748893953749	0.72
18	8252481	A	C	18	8252483	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.13409531383208E-4	0.024
18	8252481	A	G	18	8252483	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00628090901341519	0.082
18	8252481	A	T	18	8252483	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.04114778629904E-4	0.064
18	8252482	A	C	18	8252484	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0209873357485165	0.172
18	8252482	A	G	18	8252484	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999257849563167	0.942
18	8252482	A	T	18	8252484	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0766374222893172	0.316
18	8252483	A	C	18	8252485	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00210332998848068	0.106
18	8252483	A	G	18	8252485	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.20189731840426	0.36
18	8252483	A	T	18	8252485	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0129584283642809	0.258
18	8252484	A	C	18	8252486	y	y	splicing	PTPRM(NM_001105244:exon18:c.2555-2A>C)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2555-2A>C)	.	.	0.99994515364607	0.886
18	8252484	A	G	18	8252486	y	y	splicing	PTPRM(NM_001105244:exon18:c.2555-2A>G)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2555-2A>G)	.	.	0.99994515364607	0.886
18	8252484	A	T	18	8252486	y	y	splicing	PTPRM(NM_001105244:exon18:c.2555-2A>T)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2555-2A>T)	.	.	0.99994515364607	0.888
18	8252485	G	A	18	8252487	y	y	splicing	PTPRM(NM_001105244:exon18:c.2555-1G>A)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2555-1G>A)	.	.	0.999979910738533	0.888
18	8252485	G	C	18	8252487	y	y	splicing	PTPRM(NM_001105244:exon18:c.2555-1G>C)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2555-1G>C)	.	.	0.999983347500877	0.888
18	8252485	G	T	18	8252487	y	y	splicing	PTPRM(NM_001105244:exon18:c.2555-1G>T)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2555-1G>T)	.	.	0.999983347500877	0.888
18	8252486	T	A	18	8252488	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.T2555A:p.V852E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.T2555A:p.V852E;	0.00476372870257802	0.13
18	8252486	T	C	18	8252488	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.T2555C:p.V852A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.T2555C:p.V852A;	0.0203228416563955	0.144
18	8252486	T	G	18	8252488	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.T2555G:p.V852G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.T2555G:p.V852G;	0.00277658986636669	0.086
18	8252487	G	A	18	8252489	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_001105244:exon18:c.G2556A:p.V852V;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.G2556A:p.V852V;	0.031397828856534	0.248
18	8252487	G	C	18	8252489	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_001105244:exon18:c.G2556C:p.V852V;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.G2556C:p.V852V;	0.0035175477358704	0.08
18	8252487	G	T	18	8252489	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_001105244:exon18:c.G2556T:p.V852V;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.G2556T:p.V852V;	0.00483789034080941	0.09
18	8252495	A	C	18	8252497	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.A2564C:p.N855T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.A2564C:p.N855T;	0.00482952418501791	0.018
18	8252495	A	G	18	8252497	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.A2564G:p.N855S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.A2564G:p.N855S;	0.0106705799739169	0.078
18	8252495	A	T	18	8252497	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.A2564T:p.N855I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.A2564T:p.N855I;	0.136468323717097	0.224
18	8252496	T	A	18	8252498	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.T2565A:p.N855K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.T2565A:p.N855K;	0.0161332983149927	0.224
18	8252496	T	C	18	8252498	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_001105244:exon18:c.T2565C:p.N855N;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.T2565C:p.N855N;	0.0152787534450503	0.14
18	8252496	T	G	18	8252498	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.T2565G:p.N855K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.T2565G:p.N855K;	0.0181699809840535	0.304
18	8252497	G	A	18	8252499	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.G2566A:p.D856N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.G2566A:p.D856N;	0.99957615496159	0.954
18	8252497	G	C	18	8252499	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.G2566C:p.D856H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.G2566C:p.D856H;	0.993700819424122	0.84
18	8252497	G	T	18	8252499	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_001105244:exon18:c.G2566T:p.D856Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000580170:exon18:c.G2566T:p.D856Y;	0.994265603585428	0.908
18	8252498	G	A	18	8252500	y	y	splicing	PTPRM(NM_001105244:exon18:c.2566+1G>A)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2566+1G>A)	.	.	0.999986675681007	0.934
18	8252498	G	C	18	8252500	y	y	splicing	PTPRM(NM_001105244:exon18:c.2566+1G>C)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2566+1G>C)	.	.	0.999986675681007	0.932
18	8252498	G	T	18	8252500	y	y	splicing	PTPRM(NM_001105244:exon18:c.2566+1G>T)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2566+1G>T)	.	.	0.999986675681007	0.934
18	8252499	T	A	18	8252501	y	y	splicing	PTPRM(NM_001105244:exon18:c.2566+2T>A)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2566+2T>A)	.	.	0.999988247793601	0.926
18	8252499	T	C	18	8252501	y	y	splicing	PTPRM(NM_001105244:exon18:c.2566+2T>C)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2566+2T>C)	.	.	0.986973409415639	0.632
18	8252499	T	G	18	8252501	y	y	splicing	PTPRM(NM_001105244:exon18:c.2566+2T>G)	.	.	splicing	ENSG00000173482(ENST00000580170:exon18:c.2566+2T>G)	.	.	0.999988247793601	0.926
18	8252500	A	C	18	8252502	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998219526995242	0.944
18	8252500	A	G	18	8252502	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.30803077169069	0.324
18	8252500	A	T	18	8252502	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997757699892083	0.93
18	8252501	A	C	18	8252503	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.923197196750026	0.692
18	8252501	A	G	18	8252503	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.959982905782006	0.706
18	8252501	A	T	18	8252503	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.97815775353652	0.74
18	8252502	G	A	18	8252504	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999183128787364	0.916
18	8252502	G	C	18	8252504	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999199127601494	0.856
18	8252502	G	T	18	8252504	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998836557151544	0.874
18	8252503	T	A	18	8252505	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.877029735302329	0.538
18	8252503	T	C	18	8252505	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.548480517188776	0.512
18	8252503	T	G	18	8252505	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.506209847514072	0.448
18	8252504	T	A	18	8252506	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.02147149369138E-4	0.002
18	8252504	T	C	18	8252506	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.973510641058E-4	0.016
18	8252504	T	G	18	8252506	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.60264020989559E-4	0.002
18	8252505	C	A	18	8252507	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.02014867444506E-5	0.024
18	8252505	C	G	18	8252507	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.22873500489769E-5	0.022
18	8252505	C	T	18	8252507	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.79201247658711E-5	0.034
18	8253213	T	A	18	8253215	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0108215458468915	0.276
18	8253213	T	C	18	8253215	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.002829269255782	0.136
18	8253213	T	G	18	8253215	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0115189120776355	0.258
18	8253214	T	A	18	8253216	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.447626976294642	0.586
18	8253214	T	C	18	8253216	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0113907730860782	0.194
18	8253214	T	G	18	8253216	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.16269287792284	0.498
18	8253215	C	A	18	8253217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0983360897669283	0.192
18	8253215	C	G	18	8253217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0178309290601714	0.08
18	8253215	C	T	18	8253217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0299379223739669	0.252
18	8253216	T	A	18	8253218	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00927273910128117	0.116
18	8253216	T	C	18	8253218	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.09184898546483E-4	0.044
18	8253216	T	G	18	8253218	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00626062333031714	0.096
18	8253217	T	A	18	8253219	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00135821703687641	0.096
18	8253217	T	C	18	8253219	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.81678119140003E-5	0.0
18	8253217	T	G	18	8253219	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.9455762999539E-4	0.118
18	8253218	T	A	18	8253220	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00637821790203	0.09
18	8253218	T	C	18	8253220	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.12458434211295E-4	0.0
18	8253218	T	G	18	8253220	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00188004169903445	0.066
18	8253219	T	A	18	8253221	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00154132427361754	0.122
18	8253219	T	C	18	8253221	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.6906346602424E-5	0.008
18	8253219	T	G	18	8253221	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00344537523863848	0.12
18	8253220	C	A	18	8253222	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0252620046264721	0.16
18	8253220	C	G	18	8253222	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0211807544009303	0.172
18	8253220	C	T	18	8253222	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.28262046773342E-4	0.042
18	8253221	C	A	18	8253223	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00239100433135917	0.028
18	8253221	C	G	18	8253223	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00231675569033198	0.034
18	8253221	C	T	18	8253223	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00267286497164692	0.05
18	8253222	T	A	18	8253224	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00394734878262119	0.196
18	8253222	T	C	18	8253224	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.92136471979064E-5	0.006
18	8253222	T	G	18	8253224	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.959950418100437	0.568
18	8253223	A	C	18	8253225	y	y	splicing	PTPRM(NM_002845:exon17:c.2528-2A>C;NM_001105244:exon19:c.2567-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2528-2A>C;ENST00000580170:exon19:c.2567-2A>C;ENST00000400060:exon19:c.2570-2A>C;ENST00000400053:exon17:c.2342-2A>C;ENST00000444013:exon13:c.1889-2A>C)	.	.	0.999988247793601	0.928
18	8253223	A	G	18	8253225	y	y	splicing	PTPRM(NM_002845:exon17:c.2528-2A>G;NM_001105244:exon19:c.2567-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2528-2A>G;ENST00000580170:exon19:c.2567-2A>G;ENST00000400060:exon19:c.2570-2A>G;ENST00000400053:exon17:c.2342-2A>G;ENST00000444013:exon13:c.1889-2A>G)	.	.	0.999988247793601	0.928
18	8253223	A	T	18	8253225	y	y	splicing	PTPRM(NM_002845:exon17:c.2528-2A>T;NM_001105244:exon19:c.2567-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2528-2A>T;ENST00000580170:exon19:c.2567-2A>T;ENST00000400060:exon19:c.2570-2A>T;ENST00000400053:exon17:c.2342-2A>T;ENST00000444013:exon13:c.1889-2A>T)	.	.	0.999988247793601	0.93
18	8253224	G	A	18	8253226	y	y	splicing	PTPRM(NM_002845:exon17:c.2528-1G>A;NM_001105244:exon19:c.2567-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2528-1G>A;ENST00000580170:exon19:c.2567-1G>A;ENST00000400060:exon19:c.2570-1G>A;ENST00000400053:exon17:c.2342-1G>A;ENST00000444013:exon13:c.1889-1G>A)	.	.	0.999989072007339	0.934
18	8253224	G	C	18	8253226	y	y	splicing	PTPRM(NM_002845:exon17:c.2528-1G>C;NM_001105244:exon19:c.2567-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2528-1G>C;ENST00000580170:exon19:c.2567-1G>C;ENST00000400060:exon19:c.2570-1G>C;ENST00000400053:exon17:c.2342-1G>C;ENST00000444013:exon13:c.1889-1G>C)	.	.	0.999989072007339	0.934
18	8253224	G	T	18	8253226	y	y	splicing	PTPRM(NM_002845:exon17:c.2528-1G>T;NM_001105244:exon19:c.2567-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2528-1G>T;ENST00000580170:exon19:c.2567-1G>T;ENST00000400060:exon19:c.2570-1G>T;ENST00000400053:exon17:c.2342-1G>T;ENST00000444013:exon13:c.1889-1G>T)	.	.	0.999989072007339	0.934
18	8253225	A	C	18	8253227	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.A2528C:p.D843A;PTPRM:NM_001105244:exon19:c.A2567C:p.D856A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.A2528C:p.D843A;ENSG00000173482:ENST00000580170:exon19:c.A2567C:p.D856A;ENSG00000173482:ENST00000400060:exon19:c.A2570C:p.N857T;ENSG00000173482:ENST00000444013:exon13:c.A1889C:p.D630A;ENSG00000173482:ENST00000400053:exon17:c.A2342C:p.D781A;	0.464637163687083	0.676
18	8253225	A	G	18	8253227	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.A2528G:p.D843G;PTPRM:NM_001105244:exon19:c.A2567G:p.D856G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.A2528G:p.D843G;ENSG00000173482:ENST00000580170:exon19:c.A2567G:p.D856G;ENSG00000173482:ENST00000400060:exon19:c.A2570G:p.N857S;ENSG00000173482:ENST00000444013:exon13:c.A1889G:p.D630G;ENSG00000173482:ENST00000400053:exon17:c.A2342G:p.D781G;	0.69844323653718	0.624
18	8253225	A	T	18	8253227	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.A2528T:p.D843V;PTPRM:NM_001105244:exon19:c.A2567T:p.D856V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.A2528T:p.D843V;ENSG00000173482:ENST00000580170:exon19:c.A2567T:p.D856V;ENSG00000173482:ENST00000400060:exon19:c.A2570T:p.N857I;ENSG00000173482:ENST00000444013:exon13:c.A1889T:p.D630V;ENSG00000173482:ENST00000400053:exon17:c.A2342T:p.D781V;	0.531449104851766	0.584
18	8253226	T	A	18	8253228	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.T2529A:p.D843E;PTPRM:NM_001105244:exon19:c.T2568A:p.D856E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.T2529A:p.D843E;ENSG00000173482:ENST00000580170:exon19:c.T2568A:p.D856E;ENSG00000173482:ENST00000400060:exon19:c.T2571A:p.N857K;ENSG00000173482:ENST00000444013:exon13:c.T1890A:p.D630E;ENSG00000173482:ENST00000400053:exon17:c.T2343A:p.D781E;	2.64127286046287E-5	0.116
18	8253226	T	C	18	8253228	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon17:c.T2529C:p.D843D;PTPRM:NM_001105244:exon19:c.T2568C:p.D856D;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.T2529C:p.D843D;ENSG00000173482:ENST00000580170:exon19:c.T2568C:p.D856D;ENSG00000173482:ENST00000400060:exon19:c.T2571C:p.N857N;ENSG00000173482:ENST00000444013:exon13:c.T1890C:p.D630D;ENSG00000173482:ENST00000400053:exon17:c.T2343C:p.D781D;	1.37055200562835E-4	0.026
18	8253226	T	G	18	8253228	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.T2529G:p.D843E;PTPRM:NM_001105244:exon19:c.T2568G:p.D856E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.T2529G:p.D843E;ENSG00000173482:ENST00000580170:exon19:c.T2568G:p.D856E;ENSG00000173482:ENST00000400060:exon19:c.T2571G:p.N857K;ENSG00000173482:ENST00000444013:exon13:c.T1890G:p.D630E;ENSG00000173482:ENST00000400053:exon17:c.T2343G:p.D781E;	2.23745536283477E-5	0.088
18	8253410	G	A	18	8253412	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.G2713A:p.E905K;PTPRM:NM_001105244:exon19:c.G2752A:p.E918K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.G2713A:p.E905K;ENSG00000173482:ENST00000580170:exon19:c.G2752A:p.E918K;ENSG00000173482:ENST00000400060:exon19:c.G2755A:p.E919K;ENSG00000173482:ENST00000444013:exon13:c.G2074A:p.E692K;ENSG00000173482:ENST00000400053:exon17:c.G2527A:p.E843K;	0.244889601856979	0.542
18	8253410	G	C	18	8253412	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.G2713C:p.E905Q;PTPRM:NM_001105244:exon19:c.G2752C:p.E918Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.G2713C:p.E905Q;ENSG00000173482:ENST00000580170:exon19:c.G2752C:p.E918Q;ENSG00000173482:ENST00000400060:exon19:c.G2755C:p.E919Q;ENSG00000173482:ENST00000444013:exon13:c.G2074C:p.E692Q;ENSG00000173482:ENST00000400053:exon17:c.G2527C:p.E843Q;	0.209195377196358	0.552
18	8253410	G	T	18	8253412	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon17:c.G2713T:p.E905X;PTPRM:NM_001105244:exon19:c.G2752T:p.E918X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon17:c.G2713T:p.E905X;ENSG00000173482:ENST00000580170:exon19:c.G2752T:p.E918X;ENSG00000173482:ENST00000400060:exon19:c.G2755T:p.E919X;ENSG00000173482:ENST00000444013:exon13:c.G2074T:p.E692X;ENSG00000173482:ENST00000400053:exon17:c.G2527T:p.E843X;	0.506050959409375	0.634
18	8253411	A	C	18	8253413	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.A2714C:p.E905A;PTPRM:NM_001105244:exon19:c.A2753C:p.E918A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.A2714C:p.E905A;ENSG00000173482:ENST00000580170:exon19:c.A2753C:p.E918A;ENSG00000173482:ENST00000400060:exon19:c.A2756C:p.E919A;ENSG00000173482:ENST00000444013:exon13:c.A2075C:p.E692A;ENSG00000173482:ENST00000400053:exon17:c.A2528C:p.E843A;	0.991018300158011	0.818
18	8253411	A	G	18	8253413	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.A2714G:p.E905G;PTPRM:NM_001105244:exon19:c.A2753G:p.E918G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.A2714G:p.E905G;ENSG00000173482:ENST00000580170:exon19:c.A2753G:p.E918G;ENSG00000173482:ENST00000400060:exon19:c.A2756G:p.E919G;ENSG00000173482:ENST00000444013:exon13:c.A2075G:p.E692G;ENSG00000173482:ENST00000400053:exon17:c.A2528G:p.E843G;	0.997867004338962	0.912
18	8253411	A	T	18	8253413	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.A2714T:p.E905V;PTPRM:NM_001105244:exon19:c.A2753T:p.E918V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.A2714T:p.E905V;ENSG00000173482:ENST00000580170:exon19:c.A2753T:p.E918V;ENSG00000173482:ENST00000400060:exon19:c.A2756T:p.E919V;ENSG00000173482:ENST00000444013:exon13:c.A2075T:p.E692V;ENSG00000173482:ENST00000400053:exon17:c.A2528T:p.E843V;	0.995816833710292	0.852
18	8253412	G	A	18	8253414	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon17:c.G2715A:p.E905E;PTPRM:NM_001105244:exon19:c.G2754A:p.E918E;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.G2715A:p.E905E;ENSG00000173482:ENST00000580170:exon19:c.G2754A:p.E918E;ENSG00000173482:ENST00000400060:exon19:c.G2757A:p.E919E;ENSG00000173482:ENST00000444013:exon13:c.G2076A:p.E692E;ENSG00000173482:ENST00000400053:exon17:c.G2529A:p.E843E;	0.999471231059631	0.956
18	8253412	G	C	18	8253414	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.G2715C:p.E905D;PTPRM:NM_001105244:exon19:c.G2754C:p.E918D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.G2715C:p.E905D;ENSG00000173482:ENST00000580170:exon19:c.G2754C:p.E918D;ENSG00000173482:ENST00000400060:exon19:c.G2757C:p.E919D;ENSG00000173482:ENST00000444013:exon13:c.G2076C:p.E692D;ENSG00000173482:ENST00000400053:exon17:c.G2529C:p.E843D;	0.999984009527483	0.936
18	8253412	G	T	18	8253414	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon17:c.G2715T:p.E905D;PTPRM:NM_001105244:exon19:c.G2754T:p.E918D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon17:c.G2715T:p.E905D;ENSG00000173482:ENST00000580170:exon19:c.G2754T:p.E918D;ENSG00000173482:ENST00000400060:exon19:c.G2757T:p.E919D;ENSG00000173482:ENST00000444013:exon13:c.G2076T:p.E692D;ENSG00000173482:ENST00000400053:exon17:c.G2529T:p.E843D;	0.9997825893799	0.96
18	8253413	G	A	18	8253415	y	y	splicing	PTPRM(NM_002845:exon17:c.2715+1G>A;NM_001105244:exon19:c.2754+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2715+1G>A;ENST00000580170:exon19:c.2754+1G>A;ENST00000400060:exon19:c.2757+1G>A;ENST00000400053:exon17:c.2529+1G>A;ENST00000444013:exon13:c.2076+1G>A)	.	.	0.999989072007339	0.934
18	8253413	G	C	18	8253415	y	y	splicing	PTPRM(NM_002845:exon17:c.2715+1G>C;NM_001105244:exon19:c.2754+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2715+1G>C;ENST00000580170:exon19:c.2754+1G>C;ENST00000400060:exon19:c.2757+1G>C;ENST00000400053:exon17:c.2529+1G>C;ENST00000444013:exon13:c.2076+1G>C)	.	.	0.999989072007339	0.934
18	8253413	G	T	18	8253415	y	y	splicing	PTPRM(NM_002845:exon17:c.2715+1G>T;NM_001105244:exon19:c.2754+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2715+1G>T;ENST00000580170:exon19:c.2754+1G>T;ENST00000400060:exon19:c.2757+1G>T;ENST00000400053:exon17:c.2529+1G>T;ENST00000444013:exon13:c.2076+1G>T)	.	.	0.999989072007339	0.934
18	8253414	T	A	18	8253416	y	y	splicing	PTPRM(NM_002845:exon17:c.2715+2T>A;NM_001105244:exon19:c.2754+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2715+2T>A;ENST00000580170:exon19:c.2754+2T>A;ENST00000400060:exon19:c.2757+2T>A;ENST00000400053:exon17:c.2529+2T>A;ENST00000444013:exon13:c.2076+2T>A)	.	.	0.999988247793601	0.932
18	8253414	T	C	18	8253416	y	y	splicing	PTPRM(NM_002845:exon17:c.2715+2T>C;NM_001105244:exon19:c.2754+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2715+2T>C;ENST00000580170:exon19:c.2754+2T>C;ENST00000400060:exon19:c.2757+2T>C;ENST00000400053:exon17:c.2529+2T>C;ENST00000444013:exon13:c.2076+2T>C)	.	.	0.99991520749976	0.868
18	8253414	T	G	18	8253416	y	y	splicing	PTPRM(NM_002845:exon17:c.2715+2T>G;NM_001105244:exon19:c.2754+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon17:c.2715+2T>G;ENST00000580170:exon19:c.2754+2T>G;ENST00000400060:exon19:c.2757+2T>G;ENST00000400053:exon17:c.2529+2T>G;ENST00000444013:exon13:c.2076+2T>G)	.	.	0.999988247793601	0.93
18	8253415	G	A	18	8253417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.55659103774409E-4	0.002
18	8253415	G	C	18	8253417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.842998927773777	0.568
18	8253415	G	T	18	8253417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.920012004469042	0.558
18	8253416	A	C	18	8253418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.774539250959936	0.546
18	8253416	A	G	18	8253418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.943485094905433	0.61
18	8253416	A	T	18	8253418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.939146559162546	0.628
18	8253417	G	A	18	8253419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992861744024772	0.878
18	8253417	G	C	18	8253419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996762775800435	0.886
18	8253417	G	T	18	8253419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99671230433843	0.918
18	8253418	C	A	18	8253420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.19097313735193E-4	0.168
18	8253418	C	G	18	8253420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.30674433733583E-5	0.126
18	8253418	C	T	18	8253420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.16813068657086E-5	0.044
18	8253419	A	C	18	8253421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.10714322530515E-4	0.006
18	8253419	A	G	18	8253421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.65985977187004E-5	0.004
18	8253419	A	T	18	8253421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.36658405969181E-5	0.0
18	8253420	C	A	18	8253422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.92297816354753E-5	0.0
18	8253420	C	G	18	8253422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.92297816354753E-5	0.0
18	8253420	C	T	18	8253422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.07434014008558E-5	0.0
18	8296354	C	A	18	8296356	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.64172459898065E-4	0.042
18	8296354	C	G	18	8296356	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998340135538913	0.994
18	8296354	C	T	18	8296356	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.23051495914737E-5	0.014
18	8296355	T	A	18	8296357	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0973505087867987	0.488
18	8296355	T	C	18	8296357	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00892417328396279	0.204
18	8296355	T	G	18	8296357	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.117455382682887	0.494
18	8296356	T	A	18	8296358	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.029390875194512	0.214
18	8296356	T	C	18	8296358	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00346845830462767	0.066
18	8296356	T	G	18	8296358	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0144470564996211	0.244
18	8296357	T	A	18	8296359	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0134087682667591	0.112
18	8296357	T	C	18	8296359	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.25009411788832E-4	0.004
18	8296357	T	G	18	8296359	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00619946114591535	0.142
18	8296358	C	A	18	8296360	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00701160829459843	0.154
18	8296358	C	G	18	8296360	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00407892241547717	0.14
18	8296358	C	T	18	8296360	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.38750724579721E-4	0.018
18	8296359	C	A	18	8296361	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.155219058591416	0.294
18	8296359	C	G	18	8296361	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0863189985776833	0.29
18	8296359	C	T	18	8296361	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00627734826889851	0.078
18	8296360	T	A	18	8296362	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.134400116466667	0.21
18	8296360	T	C	18	8296362	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.0094577019886E-4	0.078
18	8296360	T	G	18	8296362	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0915768709936816	0.298
18	8296361	T	A	18	8296363	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.974791862797899	0.79
18	8296361	T	C	18	8296363	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.743752928264827	0.564
18	8296361	T	G	18	8296363	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.965279543623982	0.798
18	8296362	C	A	18	8296364	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00487504491453607	0.13
18	8296362	C	G	18	8296364	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00238269998053703	0.058
18	8296362	C	T	18	8296364	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0016431948898195	0.066
18	8296363	T	A	18	8296365	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.920822055843461	0.626
18	8296363	T	C	18	8296365	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00317137951344024	0.108
18	8296363	T	G	18	8296365	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999634034046859	0.888
18	8296364	A	C	18	8296366	y	y	splicing	PTPRM(NM_002845:exon18:c.2716-2A>C;NM_001105244:exon20:c.2755-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2716-2A>C;ENST00000580170:exon20:c.2755-2A>C;ENST00000400060:exon20:c.2758-2A>C;ENST00000400053:exon18:c.2530-2A>C;ENST00000444013:exon14:c.2077-2A>C;ENST00000577468:exon7:c.614-2A>C)	.	.	0.999988247793601	0.93
18	8296364	A	G	18	8296366	y	y	splicing	PTPRM(NM_002845:exon18:c.2716-2A>G;NM_001105244:exon20:c.2755-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2716-2A>G;ENST00000580170:exon20:c.2755-2A>G;ENST00000400060:exon20:c.2758-2A>G;ENST00000400053:exon18:c.2530-2A>G;ENST00000444013:exon14:c.2077-2A>G;ENST00000577468:exon7:c.614-2A>G)	.	.	0.999988247793601	0.93
18	8296364	A	T	18	8296366	y	y	splicing	PTPRM(NM_002845:exon18:c.2716-2A>T;NM_001105244:exon20:c.2755-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2716-2A>T;ENST00000580170:exon20:c.2755-2A>T;ENST00000400060:exon20:c.2758-2A>T;ENST00000400053:exon18:c.2530-2A>T;ENST00000444013:exon14:c.2077-2A>T;ENST00000577468:exon7:c.614-2A>T)	.	.	0.999988247793601	0.93
18	8296365	G	A	18	8296367	y	y	splicing	PTPRM(NM_002845:exon18:c.2716-1G>A;NM_001105244:exon20:c.2755-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2716-1G>A;ENST00000580170:exon20:c.2755-1G>A;ENST00000400060:exon20:c.2758-1G>A;ENST00000400053:exon18:c.2530-1G>A;ENST00000444013:exon14:c.2077-1G>A;ENST00000577468:exon7:c.614-1G>A)	.	.	0.999990361384395	0.938
18	8296365	G	C	18	8296367	y	y	splicing	PTPRM(NM_002845:exon18:c.2716-1G>C;NM_001105244:exon20:c.2755-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2716-1G>C;ENST00000580170:exon20:c.2755-1G>C;ENST00000400060:exon20:c.2758-1G>C;ENST00000400053:exon18:c.2530-1G>C;ENST00000444013:exon14:c.2077-1G>C;ENST00000577468:exon7:c.614-1G>C)	.	.	0.999990361384395	0.938
18	8296365	G	T	18	8296367	y	y	splicing	PTPRM(NM_002845:exon18:c.2716-1G>T;NM_001105244:exon20:c.2755-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2716-1G>T;ENST00000580170:exon20:c.2755-1G>T;ENST00000400060:exon20:c.2758-1G>T;ENST00000400053:exon18:c.2530-1G>T;ENST00000444013:exon14:c.2077-1G>T;ENST00000577468:exon7:c.614-1G>T)	.	.	0.999990361384395	0.938
18	8296366	A	C	18	8296368	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.A2716C:p.S906R;PTPRM:NM_001105244:exon20:c.A2755C:p.S919R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.A2716C:p.S906R;ENSG00000173482:ENST00000580170:exon20:c.A2755C:p.S919R;ENSG00000173482:ENST00000400060:exon20:c.A2758C:p.S920R;ENSG00000173482:ENST00000444013:exon14:c.A2077C:p.S693R;ENSG00000173482:ENST00000400053:exon18:c.A2530C:p.S844R;ENSG00000173482:ENST00000577468:exon7:c.A614C:p.E205A;	0.736170952174766	0.658
18	8296366	A	G	18	8296368	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.A2716G:p.S906G;PTPRM:NM_001105244:exon20:c.A2755G:p.S919G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.A2716G:p.S906G;ENSG00000173482:ENST00000580170:exon20:c.A2755G:p.S919G;ENSG00000173482:ENST00000400060:exon20:c.A2758G:p.S920G;ENSG00000173482:ENST00000444013:exon14:c.A2077G:p.S693G;ENSG00000173482:ENST00000400053:exon18:c.A2530G:p.S844G;ENSG00000173482:ENST00000577468:exon7:c.A614G:p.E205G;	0.701500988212742	0.64
18	8296366	A	T	18	8296368	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.A2716T:p.S906C;PTPRM:NM_001105244:exon20:c.A2755T:p.S919C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.A2716T:p.S906C;ENSG00000173482:ENST00000580170:exon20:c.A2755T:p.S919C;ENSG00000173482:ENST00000400060:exon20:c.A2758T:p.S920C;ENSG00000173482:ENST00000444013:exon14:c.A2077T:p.S693C;ENSG00000173482:ENST00000400053:exon18:c.A2530T:p.S844C;ENSG00000173482:ENST00000577468:exon7:c.A614T:p.E205V;	0.489028516645112	0.564
18	8296367	G	A	18	8296369	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.G2717A:p.S906N;PTPRM:NM_001105244:exon20:c.G2756A:p.S919N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.G2717A:p.S906N;ENSG00000173482:ENST00000580170:exon20:c.G2756A:p.S919N;ENSG00000173482:ENST00000400060:exon20:c.G2759A:p.S920N;ENSG00000173482:ENST00000444013:exon14:c.G2078A:p.S693N;ENSG00000173482:ENST00000400053:exon18:c.G2531A:p.S844N;	0.987536021640619	0.858
18	8296367	G	C	18	8296369	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.G2717C:p.S906T;PTPRM:NM_001105244:exon20:c.G2756C:p.S919T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.G2717C:p.S906T;ENSG00000173482:ENST00000580170:exon20:c.G2756C:p.S919T;ENSG00000173482:ENST00000400060:exon20:c.G2759C:p.S920T;ENSG00000173482:ENST00000444013:exon14:c.G2078C:p.S693T;ENSG00000173482:ENST00000400053:exon18:c.G2531C:p.S844T;ENSG00000173482:ENST00000577468:exon7:c.G615C:p.E205D;	0.981140423664442	0.814
18	8296367	G	T	18	8296369	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.G2717T:p.S906I;PTPRM:NM_001105244:exon20:c.G2756T:p.S919I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.G2717T:p.S906I;ENSG00000173482:ENST00000580170:exon20:c.G2756T:p.S919I;ENSG00000173482:ENST00000400060:exon20:c.G2759T:p.S920I;ENSG00000173482:ENST00000444013:exon14:c.G2078T:p.S693I;ENSG00000173482:ENST00000400053:exon18:c.G2531T:p.S844I;ENSG00000173482:ENST00000577468:exon7:c.G615T:p.E205D;	0.979185314578948	0.81
18	8296451	C	A	18	8296453	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.C2801A:p.A934E;PTPRM:NM_001105244:exon20:c.C2840A:p.A947E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.C2801A:p.A934E;ENSG00000173482:ENST00000580170:exon20:c.C2840A:p.A947E;ENSG00000173482:ENST00000400060:exon20:c.C2843A:p.A948E;ENSG00000173482:ENST00000444013:exon14:c.C2162A:p.A721E;ENSG00000173482:ENST00000400053:exon18:c.C2615A:p.A872E;	0.968626435906833	0.818
18	8296451	C	G	18	8296453	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.C2801G:p.A934G;PTPRM:NM_001105244:exon20:c.C2840G:p.A947G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.C2801G:p.A934G;ENSG00000173482:ENST00000580170:exon20:c.C2840G:p.A947G;ENSG00000173482:ENST00000400060:exon20:c.C2843G:p.A948G;ENSG00000173482:ENST00000444013:exon14:c.C2162G:p.A721G;ENSG00000173482:ENST00000400053:exon18:c.C2615G:p.A872G;	0.936702649736102	0.684
18	8296451	C	T	18	8296453	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.C2801T:p.A934V;PTPRM:NM_001105244:exon20:c.C2840T:p.A947V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.C2801T:p.A934V;ENSG00000173482:ENST00000580170:exon20:c.C2840T:p.A947V;ENSG00000173482:ENST00000400060:exon20:c.C2843T:p.A948V;ENSG00000173482:ENST00000444013:exon14:c.C2162T:p.A721V;ENSG00000173482:ENST00000400053:exon18:c.C2615T:p.A872V;	0.999090136577516	0.942
18	8296452	A	C	18	8296454	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon18:c.A2802C:p.A934A;PTPRM:NM_001105244:exon20:c.A2841C:p.A947A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.A2802C:p.A934A;ENSG00000173482:ENST00000580170:exon20:c.A2841C:p.A947A;ENSG00000173482:ENST00000400060:exon20:c.A2844C:p.A948A;ENSG00000173482:ENST00000444013:exon14:c.A2163C:p.A721A;ENSG00000173482:ENST00000400053:exon18:c.A2616C:p.A872A;	0.0549066793871456	0.4
18	8296452	A	G	18	8296454	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon18:c.A2802G:p.A934A;PTPRM:NM_001105244:exon20:c.A2841G:p.A947A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.A2802G:p.A934A;ENSG00000173482:ENST00000580170:exon20:c.A2841G:p.A947A;ENSG00000173482:ENST00000400060:exon20:c.A2844G:p.A948A;ENSG00000173482:ENST00000444013:exon14:c.A2163G:p.A721A;ENSG00000173482:ENST00000400053:exon18:c.A2616G:p.A872A;	0.0393480324164114	0.314
18	8296452	A	T	18	8296454	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon18:c.A2802T:p.A934A;PTPRM:NM_001105244:exon20:c.A2841T:p.A947A;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.A2802T:p.A934A;ENSG00000173482:ENST00000580170:exon20:c.A2841T:p.A947A;ENSG00000173482:ENST00000400060:exon20:c.A2844T:p.A948A;ENSG00000173482:ENST00000444013:exon14:c.A2163T:p.A721A;ENSG00000173482:ENST00000400053:exon18:c.A2616T:p.A872A;	0.0612703886684087	0.48
18	8296453	T	A	18	8296455	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.T2803A:p.Y935N;PTPRM:NM_001105244:exon20:c.T2842A:p.Y948N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.T2803A:p.Y935N;ENSG00000173482:ENST00000580170:exon20:c.T2842A:p.Y948N;ENSG00000173482:ENST00000400060:exon20:c.T2845A:p.Y949N;ENSG00000173482:ENST00000444013:exon14:c.T2164A:p.Y722N;ENSG00000173482:ENST00000400053:exon18:c.T2617A:p.Y873N;	0.937349199535361	0.85
18	8296453	T	C	18	8296455	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.T2803C:p.Y935H;PTPRM:NM_001105244:exon20:c.T2842C:p.Y948H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.T2803C:p.Y935H;ENSG00000173482:ENST00000580170:exon20:c.T2842C:p.Y948H;ENSG00000173482:ENST00000400060:exon20:c.T2845C:p.Y949H;ENSG00000173482:ENST00000444013:exon14:c.T2164C:p.Y722H;ENSG00000173482:ENST00000400053:exon18:c.T2617C:p.Y873H;	0.985450230187548	0.942
18	8296453	T	G	18	8296455	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon18:c.T2803G:p.Y935D;PTPRM:NM_001105244:exon20:c.T2842G:p.Y948D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon18:c.T2803G:p.Y935D;ENSG00000173482:ENST00000580170:exon20:c.T2842G:p.Y948D;ENSG00000173482:ENST00000400060:exon20:c.T2845G:p.Y949D;ENSG00000173482:ENST00000444013:exon14:c.T2164G:p.Y722D;ENSG00000173482:ENST00000400053:exon18:c.T2617G:p.Y873D;	0.432281695411357	0.356
18	8296454	G	A	18	8296456	y	y	splicing	PTPRM(NM_002845:exon18:c.2803+1G>A;NM_001105244:exon20:c.2842+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2803+1G>A;ENST00000580170:exon20:c.2842+1G>A;ENST00000400060:exon20:c.2845+1G>A;ENST00000400053:exon18:c.2617+1G>A;ENST00000444013:exon14:c.2164+1G>A)	.	.	0.999990361384395	0.938
18	8296454	G	C	18	8296456	y	y	splicing	PTPRM(NM_002845:exon18:c.2803+1G>C;NM_001105244:exon20:c.2842+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2803+1G>C;ENST00000580170:exon20:c.2842+1G>C;ENST00000400060:exon20:c.2845+1G>C;ENST00000400053:exon18:c.2617+1G>C;ENST00000444013:exon14:c.2164+1G>C)	.	.	0.999990361384395	0.938
18	8296454	G	T	18	8296456	y	y	splicing	PTPRM(NM_002845:exon18:c.2803+1G>T;NM_001105244:exon20:c.2842+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2803+1G>T;ENST00000580170:exon20:c.2842+1G>T;ENST00000400060:exon20:c.2845+1G>T;ENST00000400053:exon18:c.2617+1G>T;ENST00000444013:exon14:c.2164+1G>T)	.	.	0.999990361384395	0.938
18	8296455	T	A	18	8296457	y	y	splicing	PTPRM(NM_002845:exon18:c.2803+2T>A;NM_001105244:exon20:c.2842+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2803+2T>A;ENST00000580170:exon20:c.2842+2T>A;ENST00000400060:exon20:c.2845+2T>A;ENST00000400053:exon18:c.2617+2T>A;ENST00000444013:exon14:c.2164+2T>A)	.	.	0.999988247793601	0.93
18	8296455	T	C	18	8296457	y	y	splicing	PTPRM(NM_002845:exon18:c.2803+2T>C;NM_001105244:exon20:c.2842+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2803+2T>C;ENST00000580170:exon20:c.2842+2T>C;ENST00000400060:exon20:c.2845+2T>C;ENST00000400053:exon18:c.2617+2T>C;ENST00000444013:exon14:c.2164+2T>C)	.	.	0.995320650369382	0.726
18	8296455	T	G	18	8296457	y	y	splicing	PTPRM(NM_002845:exon18:c.2803+2T>G;NM_001105244:exon20:c.2842+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon18:c.2803+2T>G;ENST00000580170:exon20:c.2842+2T>G;ENST00000400060:exon20:c.2845+2T>G;ENST00000400053:exon18:c.2617+2T>G;ENST00000444013:exon14:c.2164+2T>G)	.	.	0.999988247793601	0.93
18	8296456	A	C	18	8296458	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999606559735727	0.912
18	8296456	A	G	18	8296458	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.164376950340089	0.348
18	8296456	A	T	18	8296458	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999870980657312	0.938
18	8296457	A	C	18	8296459	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.978983777474224	0.792
18	8296457	A	G	18	8296459	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99734008202162	0.884
18	8296457	A	T	18	8296459	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996663133056064	0.904
18	8296458	G	A	18	8296460	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999660253365442	0.93
18	8296458	G	C	18	8296460	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999732083665127	0.888
18	8296458	G	T	18	8296460	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999844720344722	0.926
18	8296459	T	A	18	8296461	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.963235373384336	0.826
18	8296459	T	C	18	8296461	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.937819689290539	0.88
18	8296459	T	G	18	8296461	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.810741852833972	0.58
18	8296460	G	A	18	8296462	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.2229033156994E-4	0.008
18	8296460	G	C	18	8296462	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.76234446973925E-4	0.008
18	8296460	G	T	18	8296462	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.60034463316839E-4	0.008
18	8296461	T	A	18	8296463	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.84044845249584E-5	0.008
18	8296461	T	C	18	8296463	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.19507880229095E-5	0.01
18	8296461	T	G	18	8296463	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.19507880229095E-5	0.024
18	8314767	T	A	18	8314769	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00112539765800502	0.184
18	8314767	T	C	18	8314769	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.70052685626588E-4	0.004
18	8314767	T	G	18	8314769	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00131002441234454	0.162
18	8314768	T	A	18	8314770	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00503253550057003	0.186
18	8314768	T	C	18	8314770	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00113495221776814	0.034
18	8314768	T	G	18	8314770	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.20574384991144E-4	0.116
18	8314769	T	A	18	8314771	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00204826342254	0.054
18	8314769	T	C	18	8314771	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.2762906759885E-5	0.004
18	8314769	T	G	18	8314771	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.47682259454179E-4	0.046
18	8314770	C	A	18	8314772	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.84350833888678E-4	0.04
18	8314770	C	G	18	8314772	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.9592979253489E-4	0.036
18	8314770	C	T	18	8314772	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.28744619581185E-5	0.004
18	8314771	C	A	18	8314773	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.46653407929307E-4	0.076
18	8314771	C	G	18	8314773	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.78524276610126E-4	0.062
18	8314771	C	T	18	8314773	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.90927245347277E-4	0.05
18	8314772	T	A	18	8314774	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.29873472514035E-4	0.048
18	8314772	T	C	18	8314774	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.57927039239016E-5	0.0
18	8314772	T	G	18	8314774	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.14718825411164E-4	0.046
18	8314773	T	A	18	8314775	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0166202432235558	0.142
18	8314773	T	C	18	8314775	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.82942656577317E-4	0.004
18	8314773	T	G	18	8314775	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0106864407121479	0.106
18	8314774	T	A	18	8314776	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996379617912266	0.778
18	8314774	T	C	18	8314776	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.87446126823781E-4	0.008
18	8314774	T	G	18	8314776	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00301520684617464	0.154
18	8314775	G	A	18	8314777	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.93762342866092E-4	0.004
18	8314775	G	C	18	8314777	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.2132432373239E-5	0.004
18	8314775	G	T	18	8314777	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.01211241131083E-4	0.0
18	8314776	C	A	18	8314778	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.955523705891197	0.826
18	8314776	C	G	18	8314778	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999819357656827	0.954
18	8314776	C	T	18	8314778	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0998406275787533	0.238
18	8314777	A	C	18	8314779	y	y	splicing	PTPRM(NM_002845:exon19:c.2804-2A>C;NM_001105244:exon21:c.2843-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2804-2A>C;ENST00000580170:exon21:c.2843-2A>C;ENST00000400060:exon21:c.2846-2A>C;ENST00000400053:exon19:c.2618-2A>C;ENST00000444013:exon15:c.2165-2A>C)	.	.	0.999988247793601	0.932
18	8314777	A	G	18	8314779	y	y	splicing	PTPRM(NM_002845:exon19:c.2804-2A>G;NM_001105244:exon21:c.2843-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2804-2A>G;ENST00000580170:exon21:c.2843-2A>G;ENST00000400060:exon21:c.2846-2A>G;ENST00000400053:exon19:c.2618-2A>G;ENST00000444013:exon15:c.2165-2A>G)	.	.	0.999988247793601	0.932
18	8314777	A	T	18	8314779	y	y	splicing	PTPRM(NM_002845:exon19:c.2804-2A>T;NM_001105244:exon21:c.2843-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2804-2A>T;ENST00000580170:exon21:c.2843-2A>T;ENST00000400060:exon21:c.2846-2A>T;ENST00000400053:exon19:c.2618-2A>T;ENST00000444013:exon15:c.2165-2A>T)	.	.	0.999988247793601	0.932
18	8314778	G	A	18	8314780	y	y	splicing	PTPRM(NM_002845:exon19:c.2804-1G>A;NM_001105244:exon21:c.2843-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2804-1G>A;ENST00000580170:exon21:c.2843-1G>A;ENST00000400060:exon21:c.2846-1G>A;ENST00000400053:exon19:c.2618-1G>A;ENST00000444013:exon15:c.2165-1G>A)	.	.	0.999990361384395	0.938
18	8314778	G	C	18	8314780	y	y	splicing	PTPRM(NM_002845:exon19:c.2804-1G>C;NM_001105244:exon21:c.2843-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2804-1G>C;ENST00000580170:exon21:c.2843-1G>C;ENST00000400060:exon21:c.2846-1G>C;ENST00000400053:exon19:c.2618-1G>C;ENST00000444013:exon15:c.2165-1G>C)	.	.	0.999990361384395	0.938
18	8314778	G	T	18	8314780	y	y	splicing	PTPRM(NM_002845:exon19:c.2804-1G>T;NM_001105244:exon21:c.2843-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2804-1G>T;ENST00000580170:exon21:c.2843-1G>T;ENST00000400060:exon21:c.2846-1G>T;ENST00000400053:exon19:c.2618-1G>T;ENST00000444013:exon15:c.2165-1G>T)	.	.	0.999990361384395	0.938
18	8314779	A	C	18	8314781	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.A2804C:p.Y935S;PTPRM:NM_001105244:exon21:c.A2843C:p.Y948S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.A2804C:p.Y935S;ENSG00000173482:ENST00000580170:exon21:c.A2843C:p.Y948S;ENSG00000173482:ENST00000400060:exon21:c.A2846C:p.Y949S;ENSG00000173482:ENST00000444013:exon15:c.A2165C:p.Y722S;ENSG00000173482:ENST00000400053:exon19:c.A2618C:p.Y873S;	0.422476656155373	0.674
18	8314779	A	G	18	8314781	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.A2804G:p.Y935C;PTPRM:NM_001105244:exon21:c.A2843G:p.Y948C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.A2804G:p.Y935C;ENSG00000173482:ENST00000580170:exon21:c.A2843G:p.Y948C;ENSG00000173482:ENST00000400060:exon21:c.A2846G:p.Y949C;ENSG00000173482:ENST00000444013:exon15:c.A2165G:p.Y722C;ENSG00000173482:ENST00000400053:exon19:c.A2618G:p.Y873C;	0.775158242750843	0.73
18	8314779	A	T	18	8314781	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.A2804T:p.Y935F;PTPRM:NM_001105244:exon21:c.A2843T:p.Y948F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.A2804T:p.Y935F;ENSG00000173482:ENST00000580170:exon21:c.A2843T:p.Y948F;ENSG00000173482:ENST00000400060:exon21:c.A2846T:p.Y949F;ENSG00000173482:ENST00000444013:exon15:c.A2165T:p.Y722F;ENSG00000173482:ENST00000400053:exon19:c.A2618T:p.Y873F;	0.424151528057844	0.626
18	8314780	C	A	18	8314782	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon19:c.C2805A:p.Y935X;PTPRM:NM_001105244:exon21:c.C2844A:p.Y948X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon19:c.C2805A:p.Y935X;ENSG00000173482:ENST00000580170:exon21:c.C2844A:p.Y948X;ENSG00000173482:ENST00000400060:exon21:c.C2847A:p.Y949X;ENSG00000173482:ENST00000444013:exon15:c.C2166A:p.Y722X;ENSG00000173482:ENST00000400053:exon19:c.C2619A:p.Y873X;	0.0174080039541701	0.296
18	8314780	C	G	18	8314782	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon19:c.C2805G:p.Y935X;PTPRM:NM_001105244:exon21:c.C2844G:p.Y948X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon19:c.C2805G:p.Y935X;ENSG00000173482:ENST00000580170:exon21:c.C2844G:p.Y948X;ENSG00000173482:ENST00000400060:exon21:c.C2847G:p.Y949X;ENSG00000173482:ENST00000444013:exon15:c.C2166G:p.Y722X;ENSG00000173482:ENST00000400053:exon19:c.C2619G:p.Y873X;	0.00656534883948197	0.282
18	8314780	C	T	18	8314782	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon19:c.C2805T:p.Y935Y;PTPRM:NM_001105244:exon21:c.C2844T:p.Y948Y;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.C2805T:p.Y935Y;ENSG00000173482:ENST00000580170:exon21:c.C2844T:p.Y948Y;ENSG00000173482:ENST00000400060:exon21:c.C2847T:p.Y949Y;ENSG00000173482:ENST00000444013:exon15:c.C2166T:p.Y722Y;ENSG00000173482:ENST00000400053:exon19:c.C2619T:p.Y873Y;	3.16230724073136E-5	0.0
18	8314853	G	A	18	8314855	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.G2878A:p.D960N;PTPRM:NM_001105244:exon21:c.G2917A:p.D973N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.G2878A:p.D960N;ENSG00000173482:ENST00000580170:exon21:c.G2917A:p.D973N;ENSG00000173482:ENST00000400060:exon21:c.G2920A:p.D974N;ENSG00000173482:ENST00000444013:exon15:c.G2239A:p.D747N;ENSG00000173482:ENST00000400053:exon19:c.G2692A:p.D898N;	0.504702274702282	0.578
18	8314853	G	C	18	8314855	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.G2878C:p.D960H;PTPRM:NM_001105244:exon21:c.G2917C:p.D973H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.G2878C:p.D960H;ENSG00000173482:ENST00000580170:exon21:c.G2917C:p.D973H;ENSG00000173482:ENST00000400060:exon21:c.G2920C:p.D974H;ENSG00000173482:ENST00000444013:exon15:c.G2239C:p.D747H;ENSG00000173482:ENST00000400053:exon19:c.G2692C:p.D898H;	0.537986045576743	0.538
18	8314853	G	T	18	8314855	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.G2878T:p.D960Y;PTPRM:NM_001105244:exon21:c.G2917T:p.D973Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.G2878T:p.D960Y;ENSG00000173482:ENST00000580170:exon21:c.G2917T:p.D973Y;ENSG00000173482:ENST00000400060:exon21:c.G2920T:p.D974Y;ENSG00000173482:ENST00000444013:exon15:c.G2239T:p.D747Y;ENSG00000173482:ENST00000400053:exon19:c.G2692T:p.D898Y;	0.737438877721726	0.518
18	8314854	A	C	18	8314856	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.A2879C:p.D960A;PTPRM:NM_001105244:exon21:c.A2918C:p.D973A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.A2879C:p.D960A;ENSG00000173482:ENST00000580170:exon21:c.A2918C:p.D973A;ENSG00000173482:ENST00000400060:exon21:c.A2921C:p.D974A;ENSG00000173482:ENST00000444013:exon15:c.A2240C:p.D747A;ENSG00000173482:ENST00000400053:exon19:c.A2693C:p.D898A;	0.999803532002551	0.99
18	8314854	A	G	18	8314856	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.A2879G:p.D960G;PTPRM:NM_001105244:exon21:c.A2918G:p.D973G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.A2879G:p.D960G;ENSG00000173482:ENST00000580170:exon21:c.A2918G:p.D973G;ENSG00000173482:ENST00000400060:exon21:c.A2921G:p.D974G;ENSG00000173482:ENST00000444013:exon15:c.A2240G:p.D747G;ENSG00000173482:ENST00000400053:exon19:c.A2693G:p.D898G;	0.999928158625592	0.998
18	8314854	A	T	18	8314856	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.A2879T:p.D960V;PTPRM:NM_001105244:exon21:c.A2918T:p.D973V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.A2879T:p.D960V;ENSG00000173482:ENST00000580170:exon21:c.A2918T:p.D973V;ENSG00000173482:ENST00000400060:exon21:c.A2921T:p.D974V;ENSG00000173482:ENST00000444013:exon15:c.A2240T:p.D747V;ENSG00000173482:ENST00000400053:exon19:c.A2693T:p.D898V;	0.99992075634857	0.996
18	8314855	T	A	18	8314857	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.T2880A:p.D960E;PTPRM:NM_001105244:exon21:c.T2919A:p.D973E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.T2880A:p.D960E;ENSG00000173482:ENST00000580170:exon21:c.T2919A:p.D973E;ENSG00000173482:ENST00000400060:exon21:c.T2922A:p.D974E;ENSG00000173482:ENST00000444013:exon15:c.T2241A:p.D747E;ENSG00000173482:ENST00000400053:exon19:c.T2694A:p.D898E;	8.94265032366947E-4	0.28
18	8314855	T	C	18	8314857	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon19:c.T2880C:p.D960D;PTPRM:NM_001105244:exon21:c.T2919C:p.D973D;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.T2880C:p.D960D;ENSG00000173482:ENST00000580170:exon21:c.T2919C:p.D973D;ENSG00000173482:ENST00000400060:exon21:c.T2922C:p.D974D;ENSG00000173482:ENST00000444013:exon15:c.T2241C:p.D747D;ENSG00000173482:ENST00000400053:exon19:c.T2694C:p.D898D;	0.0014206444272049	0.3
18	8314855	T	G	18	8314857	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon19:c.T2880G:p.D960E;PTPRM:NM_001105244:exon21:c.T2919G:p.D973E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon19:c.T2880G:p.D960E;ENSG00000173482:ENST00000580170:exon21:c.T2919G:p.D973E;ENSG00000173482:ENST00000400060:exon21:c.T2922G:p.D974E;ENSG00000173482:ENST00000444013:exon15:c.T2241G:p.D747E;ENSG00000173482:ENST00000400053:exon19:c.T2694G:p.D898E;	6.60683468981281E-4	0.352
18	8314856	G	A	18	8314858	y	y	splicing	PTPRM(NM_002845:exon19:c.2880+1G>A;NM_001105244:exon21:c.2919+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2880+1G>A;ENST00000580170:exon21:c.2919+1G>A;ENST00000400060:exon21:c.2922+1G>A;ENST00000400053:exon19:c.2694+1G>A;ENST00000444013:exon15:c.2241+1G>A)	.	.	0.999989263107695	0.938
18	8314856	G	C	18	8314858	y	y	splicing	PTPRM(NM_002845:exon19:c.2880+1G>C;NM_001105244:exon21:c.2919+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2880+1G>C;ENST00000580170:exon21:c.2919+1G>C;ENST00000400060:exon21:c.2922+1G>C;ENST00000400053:exon19:c.2694+1G>C;ENST00000444013:exon15:c.2241+1G>C)	.	.	0.999989263107695	0.936
18	8314856	G	T	18	8314858	y	y	splicing	PTPRM(NM_002845:exon19:c.2880+1G>T;NM_001105244:exon21:c.2919+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2880+1G>T;ENST00000580170:exon21:c.2919+1G>T;ENST00000400060:exon21:c.2922+1G>T;ENST00000400053:exon19:c.2694+1G>T;ENST00000444013:exon15:c.2241+1G>T)	.	.	0.999989263107695	0.936
18	8314857	T	A	18	8314859	y	y	splicing	PTPRM(NM_002845:exon19:c.2880+2T>A;NM_001105244:exon21:c.2919+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2880+2T>A;ENST00000580170:exon21:c.2919+2T>A;ENST00000400060:exon21:c.2922+2T>A;ENST00000400053:exon19:c.2694+2T>A;ENST00000444013:exon15:c.2241+2T>A)	.	.	0.999988247793601	0.932
18	8314857	T	C	18	8314859	y	y	splicing	PTPRM(NM_002845:exon19:c.2880+2T>C;NM_001105244:exon21:c.2919+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2880+2T>C;ENST00000580170:exon21:c.2919+2T>C;ENST00000400060:exon21:c.2922+2T>C;ENST00000400053:exon19:c.2694+2T>C;ENST00000444013:exon15:c.2241+2T>C)	.	.	0.992783534660112	0.682
18	8314857	T	G	18	8314859	y	y	splicing	PTPRM(NM_002845:exon19:c.2880+2T>G;NM_001105244:exon21:c.2919+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon19:c.2880+2T>G;ENST00000580170:exon21:c.2919+2T>G;ENST00000400060:exon21:c.2922+2T>G;ENST00000400053:exon19:c.2694+2T>G;ENST00000444013:exon15:c.2241+2T>G)	.	.	0.999988247793601	0.932
18	8314858	A	C	18	8314860	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99988419414187	0.958
18	8314858	A	G	18	8314860	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999416025739382	0.964
18	8314858	A	T	18	8314860	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999911016065119	0.96
18	8314859	T	A	18	8314861	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.1663342476814E-4	0.086
18	8314859	T	C	18	8314861	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.95424716846312E-4	0.014
18	8314859	T	G	18	8314861	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.70304510153694E-4	0.044
18	8314860	G	A	18	8314862	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999964936382637	0.998
18	8314860	G	C	18	8314862	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999973090835228	0.906
18	8314860	G	T	18	8314862	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999962436583952	0.982
18	8314861	T	A	18	8314863	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.996956873162238	0.844
18	8314861	T	C	18	8314863	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998730937537843	0.902
18	8314861	T	G	18	8314863	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998154775168766	0.888
18	8314862	A	C	18	8314864	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.55292770473703E-4	0.032
18	8314862	A	G	18	8314864	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00128734181598188	0.228
18	8314862	A	T	18	8314864	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00316404012183029	0.294
18	8314863	T	A	18	8314865	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.91347428418777E-4	0.0
18	8314863	T	C	18	8314865	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.4076558401562E-4	0.0
18	8314863	T	G	18	8314865	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.88741338148257E-4	0.01
18	8319164	A	C	18	8319166	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.76646930998368E-5	0.002
18	8319164	A	G	18	8319166	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.9884389618794E-4	0.002
18	8319164	A	T	18	8319166	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.12436276472799E-4	0.01
18	8319165	T	A	18	8319167	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.527877316144375	0.506
18	8319165	T	C	18	8319167	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0189089601904517	0.104
18	8319165	T	G	18	8319167	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999765679762951	0.9
18	8319166	T	A	18	8319168	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.969801614509818	0.638
18	8319166	T	C	18	8319168	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0235932947285305	0.218
18	8319166	T	G	18	8319168	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.924048248499817	0.564
18	8319167	T	A	18	8319169	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.107937415086962	0.35
18	8319167	T	C	18	8319169	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.64203306486832E-4	0.008
18	8319167	T	G	18	8319169	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.139359141138906	0.376
18	8319168	A	C	18	8319170	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.43811921903642E-6	0.0
18	8319168	A	G	18	8319170	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.32254212979651E-5	0.002
18	8319168	A	T	18	8319170	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.01502493272276E-5	0.0
18	8319169	T	A	18	8319171	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0555398004788659	0.3
18	8319169	T	C	18	8319171	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.23547838118863E-4	0.02
18	8319169	T	G	18	8319171	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999400322034236	0.946
18	8319170	T	A	18	8319172	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.438156540260435	0.512
18	8319170	T	C	18	8319172	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.5983534486699E-4	0.01
18	8319170	T	G	18	8319172	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.700681909220837	0.566
18	8319171	T	A	18	8319173	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.647880822766319	0.682
18	8319171	T	C	18	8319173	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00522853039464054	0.044
18	8319171	T	G	18	8319173	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.890926292886834	0.668
18	8319172	T	A	18	8319174	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.22633295851299E-4	0.054
18	8319172	T	C	18	8319174	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.29697362153983E-5	0.006
18	8319172	T	G	18	8319174	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.41611254083902E-4	0.022
18	8319173	T	A	18	8319175	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0100178094380629	0.2
18	8319173	T	C	18	8319175	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.43425762888632E-4	0.016
18	8319173	T	G	18	8319175	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99239234721167	0.644
18	8319174	A	C	18	8319176	y	y	splicing	PTPRM(NM_002845:exon20:c.2881-2A>C;NM_001105244:exon22:c.2920-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2881-2A>C;ENST00000580170:exon22:c.2920-2A>C;ENST00000400060:exon22:c.2923-2A>C;ENST00000400053:exon20:c.2695-2A>C;ENST00000444013:exon16:c.2242-2A>C)	.	.	0.999992446697775	0.928
18	8319174	A	G	18	8319176	y	y	splicing	PTPRM(NM_002845:exon20:c.2881-2A>G;NM_001105244:exon22:c.2920-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2881-2A>G;ENST00000580170:exon22:c.2920-2A>G;ENST00000400060:exon22:c.2923-2A>G;ENST00000400053:exon20:c.2695-2A>G;ENST00000444013:exon16:c.2242-2A>G)	.	.	0.999992446697775	0.928
18	8319174	A	T	18	8319176	y	y	splicing	PTPRM(NM_002845:exon20:c.2881-2A>T;NM_001105244:exon22:c.2920-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2881-2A>T;ENST00000580170:exon22:c.2920-2A>T;ENST00000400060:exon22:c.2923-2A>T;ENST00000400053:exon20:c.2695-2A>T;ENST00000444013:exon16:c.2242-2A>T)	.	.	0.999992446697775	0.93
18	8319175	G	A	18	8319177	y	y	splicing	PTPRM(NM_002845:exon20:c.2881-1G>A;NM_001105244:exon22:c.2920-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2881-1G>A;ENST00000580170:exon22:c.2920-1G>A;ENST00000400060:exon22:c.2923-1G>A;ENST00000400053:exon20:c.2695-1G>A;ENST00000444013:exon16:c.2242-1G>A)	.	.	0.999988247793601	0.926
18	8319175	G	C	18	8319177	y	y	splicing	PTPRM(NM_002845:exon20:c.2881-1G>C;NM_001105244:exon22:c.2920-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2881-1G>C;ENST00000580170:exon22:c.2920-1G>C;ENST00000400060:exon22:c.2923-1G>C;ENST00000400053:exon20:c.2695-1G>C;ENST00000444013:exon16:c.2242-1G>C)	.	.	0.999988247793601	0.926
18	8319175	G	T	18	8319177	y	y	splicing	PTPRM(NM_002845:exon20:c.2881-1G>T;NM_001105244:exon22:c.2920-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2881-1G>T;ENST00000580170:exon22:c.2920-1G>T;ENST00000400060:exon22:c.2923-1G>T;ENST00000400053:exon20:c.2695-1G>T;ENST00000444013:exon16:c.2242-1G>T)	.	.	0.999988247793601	0.926
18	8319176	G	A	18	8319178	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2881A:p.G961S;PTPRM:NM_001105244:exon22:c.G2920A:p.G974S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2881A:p.G961S;ENSG00000173482:ENST00000580170:exon22:c.G2920A:p.G974S;ENSG00000173482:ENST00000400060:exon22:c.G2923A:p.G975S;ENSG00000173482:ENST00000444013:exon16:c.G2242A:p.G748S;ENSG00000173482:ENST00000400053:exon20:c.G2695A:p.G899S;	0.996727146157933	0.824
18	8319176	G	C	18	8319178	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2881C:p.G961R;PTPRM:NM_001105244:exon22:c.G2920C:p.G974R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2881C:p.G961R;ENSG00000173482:ENST00000580170:exon22:c.G2920C:p.G974R;ENSG00000173482:ENST00000400060:exon22:c.G2923C:p.G975R;ENSG00000173482:ENST00000444013:exon16:c.G2242C:p.G748R;ENSG00000173482:ENST00000400053:exon20:c.G2695C:p.G899R;	0.999730756719021	0.856
18	8319176	G	T	18	8319178	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2881T:p.G961C;PTPRM:NM_001105244:exon22:c.G2920T:p.G974C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2881T:p.G961C;ENSG00000173482:ENST00000580170:exon22:c.G2920T:p.G974C;ENSG00000173482:ENST00000400060:exon22:c.G2923T:p.G975C;ENSG00000173482:ENST00000444013:exon16:c.G2242T:p.G748C;ENSG00000173482:ENST00000400053:exon20:c.G2695T:p.G899C;	0.999661219463154	0.894
18	8319177	G	A	18	8319179	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2882A:p.G961D;PTPRM:NM_001105244:exon22:c.G2921A:p.G974D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2882A:p.G961D;ENSG00000173482:ENST00000580170:exon22:c.G2921A:p.G974D;ENSG00000173482:ENST00000400060:exon22:c.G2924A:p.G975D;ENSG00000173482:ENST00000444013:exon16:c.G2243A:p.G748D;ENSG00000173482:ENST00000400053:exon20:c.G2696A:p.G899D;	0.951815897975771	0.664
18	8319177	G	C	18	8319179	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2882C:p.G961A;PTPRM:NM_001105244:exon22:c.G2921C:p.G974A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2882C:p.G961A;ENSG00000173482:ENST00000580170:exon22:c.G2921C:p.G974A;ENSG00000173482:ENST00000400060:exon22:c.G2924C:p.G975A;ENSG00000173482:ENST00000444013:exon16:c.G2243C:p.G748A;ENSG00000173482:ENST00000400053:exon20:c.G2696C:p.G899A;	0.956610289622451	0.704
18	8319177	G	T	18	8319179	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2882T:p.G961V;PTPRM:NM_001105244:exon22:c.G2921T:p.G974V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2882T:p.G961V;ENSG00000173482:ENST00000580170:exon22:c.G2921T:p.G974V;ENSG00000173482:ENST00000400060:exon22:c.G2924T:p.G975V;ENSG00000173482:ENST00000444013:exon16:c.G2243T:p.G748V;ENSG00000173482:ENST00000400053:exon20:c.G2696T:p.G899V;	0.966514086805142	0.772
18	8319210	A	C	18	8319212	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.A2915C:p.Q972P;PTPRM:NM_001105244:exon22:c.A2954C:p.Q985P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.A2915C:p.Q972P;ENSG00000173482:ENST00000580170:exon22:c.A2954C:p.Q985P;ENSG00000173482:ENST00000400060:exon22:c.A2957C:p.Q986P;ENSG00000173482:ENST00000444013:exon16:c.A2276C:p.Q759P;ENSG00000173482:ENST00000400053:exon20:c.A2729C:p.Q910P;	0.758362568254384	0.644
18	8319210	A	G	18	8319212	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.A2915G:p.Q972R;PTPRM:NM_001105244:exon22:c.A2954G:p.Q985R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.A2915G:p.Q972R;ENSG00000173482:ENST00000580170:exon22:c.A2954G:p.Q985R;ENSG00000173482:ENST00000400060:exon22:c.A2957G:p.Q986R;ENSG00000173482:ENST00000444013:exon16:c.A2276G:p.Q759R;ENSG00000173482:ENST00000400053:exon20:c.A2729G:p.Q910R;	0.253360151670467	0.416
18	8319210	A	T	18	8319212	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.A2915T:p.Q972L;PTPRM:NM_001105244:exon22:c.A2954T:p.Q985L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.A2915T:p.Q972L;ENSG00000173482:ENST00000580170:exon22:c.A2954T:p.Q985L;ENSG00000173482:ENST00000400060:exon22:c.A2957T:p.Q986L;ENSG00000173482:ENST00000444013:exon16:c.A2276T:p.Q759L;ENSG00000173482:ENST00000400053:exon20:c.A2729T:p.Q910L;	0.91572013937882	0.464
18	8319211	A	C	18	8319213	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.A2916C:p.Q972H;PTPRM:NM_001105244:exon22:c.A2955C:p.Q985H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.A2916C:p.Q972H;ENSG00000173482:ENST00000580170:exon22:c.A2955C:p.Q985H;ENSG00000173482:ENST00000400060:exon22:c.A2958C:p.Q986H;ENSG00000173482:ENST00000444013:exon16:c.A2277C:p.Q759H;ENSG00000173482:ENST00000400053:exon20:c.A2730C:p.Q910H;	0.988960737396921	0.656
18	8319211	A	G	18	8319213	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon20:c.A2916G:p.Q972Q;PTPRM:NM_001105244:exon22:c.A2955G:p.Q985Q;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.A2916G:p.Q972Q;ENSG00000173482:ENST00000580170:exon22:c.A2955G:p.Q985Q;ENSG00000173482:ENST00000400060:exon22:c.A2958G:p.Q986Q;ENSG00000173482:ENST00000444013:exon16:c.A2277G:p.Q759Q;ENSG00000173482:ENST00000400053:exon20:c.A2730G:p.Q910Q;	0.907243888791678	0.586
18	8319211	A	T	18	8319213	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.A2916T:p.Q972H;PTPRM:NM_001105244:exon22:c.A2955T:p.Q985H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.A2916T:p.Q972H;ENSG00000173482:ENST00000580170:exon22:c.A2955T:p.Q985H;ENSG00000173482:ENST00000400060:exon22:c.A2958T:p.Q986H;ENSG00000173482:ENST00000444013:exon16:c.A2277T:p.Q759H;ENSG00000173482:ENST00000400053:exon20:c.A2730T:p.Q910H;	0.988960737396921	0.496
18	8319212	G	A	18	8319214	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2917A:p.G973R;PTPRM:NM_001105244:exon22:c.G2956A:p.G986R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2917A:p.G973R;ENSG00000173482:ENST00000580170:exon22:c.G2956A:p.G986R;ENSG00000173482:ENST00000400060:exon22:c.G2959A:p.G987R;ENSG00000173482:ENST00000444013:exon16:c.G2278A:p.G760R;ENSG00000173482:ENST00000400053:exon20:c.G2731A:p.G911R;	0.998586110447908	0.828
18	8319212	G	C	18	8319214	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2917C:p.G973R;PTPRM:NM_001105244:exon22:c.G2956C:p.G986R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2917C:p.G973R;ENSG00000173482:ENST00000580170:exon22:c.G2956C:p.G986R;ENSG00000173482:ENST00000400060:exon22:c.G2959C:p.G987R;ENSG00000173482:ENST00000444013:exon16:c.G2278C:p.G760R;ENSG00000173482:ENST00000400053:exon20:c.G2731C:p.G911R;	0.998952844255803	0.91
18	8319212	G	T	18	8319214	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon20:c.G2917T:p.G973W;PTPRM:NM_001105244:exon22:c.G2956T:p.G986W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon20:c.G2917T:p.G973W;ENSG00000173482:ENST00000580170:exon22:c.G2956T:p.G986W;ENSG00000173482:ENST00000400060:exon22:c.G2959T:p.G987W;ENSG00000173482:ENST00000444013:exon16:c.G2278T:p.G760W;ENSG00000173482:ENST00000400053:exon20:c.G2731T:p.G911W;	0.999152272705897	0.852
18	8319213	G	A	18	8319215	y	y	splicing	PTPRM(NM_002845:exon20:c.2917+1G>A;NM_001105244:exon22:c.2956+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2917+1G>A;ENST00000580170:exon22:c.2956+1G>A;ENST00000400060:exon22:c.2959+1G>A;ENST00000400053:exon20:c.2731+1G>A;ENST00000444013:exon16:c.2278+1G>A)	.	.	0.999988247793601	0.926
18	8319213	G	C	18	8319215	y	y	splicing	PTPRM(NM_002845:exon20:c.2917+1G>C;NM_001105244:exon22:c.2956+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2917+1G>C;ENST00000580170:exon22:c.2956+1G>C;ENST00000400060:exon22:c.2959+1G>C;ENST00000400053:exon20:c.2731+1G>C;ENST00000444013:exon16:c.2278+1G>C)	.	.	0.999988247793601	0.926
18	8319213	G	T	18	8319215	y	y	splicing	PTPRM(NM_002845:exon20:c.2917+1G>T;NM_001105244:exon22:c.2956+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2917+1G>T;ENST00000580170:exon22:c.2956+1G>T;ENST00000400060:exon22:c.2959+1G>T;ENST00000400053:exon20:c.2731+1G>T;ENST00000444013:exon16:c.2278+1G>T)	.	.	0.999988247793601	0.926
18	8319214	T	A	18	8319216	y	y	splicing	PTPRM(NM_002845:exon20:c.2917+2T>A;NM_001105244:exon22:c.2956+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2917+2T>A;ENST00000580170:exon22:c.2956+2T>A;ENST00000400060:exon22:c.2959+2T>A;ENST00000400053:exon20:c.2731+2T>A;ENST00000444013:exon16:c.2278+2T>A)	.	.	0.999992446697775	0.93
18	8319214	T	C	18	8319216	y	y	splicing	PTPRM(NM_002845:exon20:c.2917+2T>C;NM_001105244:exon22:c.2956+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2917+2T>C;ENST00000580170:exon22:c.2956+2T>C;ENST00000400060:exon22:c.2959+2T>C;ENST00000400053:exon20:c.2731+2T>C;ENST00000444013:exon16:c.2278+2T>C)	.	.	0.993224249116124	0.592
18	8319214	T	G	18	8319216	y	y	splicing	PTPRM(NM_002845:exon20:c.2917+2T>G;NM_001105244:exon22:c.2956+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon20:c.2917+2T>G;ENST00000580170:exon22:c.2956+2T>G;ENST00000400060:exon22:c.2959+2T>G;ENST00000400053:exon20:c.2731+2T>G;ENST00000444013:exon16:c.2278+2T>G)	.	.	0.999992446697775	0.93
18	8319215	A	C	18	8319217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.9959087103103	0.846
18	8319215	A	G	18	8319217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.398353602054099	0.228
18	8319215	A	T	18	8319217	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.979010640109697	0.808
18	8319216	A	C	18	8319218	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.943543786790748	0.664
18	8319216	A	G	18	8319218	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.938817431554723	0.638
18	8319216	A	T	18	8319218	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.97502631536105	0.78
18	8319217	G	A	18	8319219	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.912954550955502	0.68
18	8319217	G	C	18	8319219	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.901164555615872	0.648
18	8319217	G	T	18	8319219	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.906324183811637	0.654
18	8319218	T	A	18	8319220	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.378949301832423	0.312
18	8319218	T	C	18	8319220	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.479674161570949	0.3
18	8319218	T	G	18	8319220	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0772543298150801	0.23
18	8319219	T	A	18	8319221	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.14959085947539E-4	0.004
18	8319219	T	C	18	8319221	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.77536005455013E-4	0.002
18	8319219	T	G	18	8319221	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.77536005455013E-4	0.0
18	8319220	T	A	18	8319222	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.87223169682592E-4	0.018
18	8319220	T	C	18	8319222	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.0678649600998E-4	0.0
18	8319220	T	G	18	8319222	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.36145648099033E-5	0.0
18	8343409	G	A	18	8343411	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.43644112390122E-5	0.012
18	8343409	G	C	18	8343411	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.94777979037645E-5	0.032
18	8343409	G	T	18	8343411	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.94777979037645E-5	0.036
18	8343410	T	A	18	8343412	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.535033765482141	0.504
18	8343410	T	C	18	8343412	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00724394856095227	0.12
18	8343410	T	G	18	8343412	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.269571280295282	0.422
18	8343411	T	A	18	8343413	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.794893677584575	0.58
18	8343411	T	C	18	8343413	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00121177260100798	0.04
18	8343411	T	G	18	8343413	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.4212590804208	0.526
18	8343412	T	A	18	8343414	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997020137184329	0.954
18	8343412	T	C	18	8343414	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.528826924748623	0.5
18	8343412	T	G	18	8343414	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997799856666694	0.842
18	8343413	T	A	18	8343415	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999726039362061	0.992
18	8343413	T	C	18	8343415	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.0587272712209E-5	0.002
18	8343413	T	G	18	8343415	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00837698381410573	0.264
18	8343414	G	A	18	8343416	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.09224451325628E-4	0.002
18	8343414	G	C	18	8343416	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.66401231053052E-5	0.002
18	8343414	G	T	18	8343416	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.71271385418311E-5	0.0
18	8343415	C	A	18	8343417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00236974896802744	0.236
18	8343415	C	G	18	8343417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00327499290883679	0.234
18	8343415	C	T	18	8343417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.86609720692861E-4	0.06
18	8343416	T	A	18	8343418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.994363471047587	0.816
18	8343416	T	C	18	8343418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.427078309766E-4	0.014
18	8343416	T	G	18	8343418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.678915589671151	0.478
18	8343417	G	A	18	8343419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.69991220857333E-4	0.006
18	8343417	G	C	18	8343419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.73264572049903E-5	0.002
18	8343417	G	T	18	8343419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.76484824608199E-4	0.002
18	8343418	C	A	18	8343420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999938058143798	0.918
18	8343418	C	G	18	8343420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99994441581792	0.958
18	8343418	C	T	18	8343420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.427466643244458	0.182
18	8343419	A	C	18	8343421	y	y	splicing	PTPRM(NM_002845:exon21:c.2918-2A>C;NM_001105244:exon23:c.2957-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.2918-2A>C;ENST00000580170:exon23:c.2957-2A>C;ENST00000400060:exon23:c.2960-2A>C;ENST00000400053:exon21:c.2732-2A>C;ENST00000444013:exon17:c.2279-2A>C)	.	.	0.999988247793601	0.93
18	8343419	A	G	18	8343421	y	y	splicing	PTPRM(NM_002845:exon21:c.2918-2A>G;NM_001105244:exon23:c.2957-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.2918-2A>G;ENST00000580170:exon23:c.2957-2A>G;ENST00000400060:exon23:c.2960-2A>G;ENST00000400053:exon21:c.2732-2A>G;ENST00000444013:exon17:c.2279-2A>G)	.	.	0.999988247793601	0.93
18	8343419	A	T	18	8343421	y	y	splicing	PTPRM(NM_002845:exon21:c.2918-2A>T;NM_001105244:exon23:c.2957-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.2918-2A>T;ENST00000580170:exon23:c.2957-2A>T;ENST00000400060:exon23:c.2960-2A>T;ENST00000400053:exon21:c.2732-2A>T;ENST00000444013:exon17:c.2279-2A>T)	.	.	0.999988247793601	0.93
18	8343420	G	A	18	8343422	y	y	splicing	PTPRM(NM_002845:exon21:c.2918-1G>A;NM_001105244:exon23:c.2957-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.2918-1G>A;ENST00000580170:exon23:c.2957-1G>A;ENST00000400060:exon23:c.2960-1G>A;ENST00000400053:exon21:c.2732-1G>A;ENST00000444013:exon17:c.2279-1G>A)	.	.	0.999990361384395	0.938
18	8343420	G	C	18	8343422	y	y	splicing	PTPRM(NM_002845:exon21:c.2918-1G>C;NM_001105244:exon23:c.2957-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.2918-1G>C;ENST00000580170:exon23:c.2957-1G>C;ENST00000400060:exon23:c.2960-1G>C;ENST00000400053:exon21:c.2732-1G>C;ENST00000444013:exon17:c.2279-1G>C)	.	.	0.999990361384395	0.938
18	8343420	G	T	18	8343422	y	y	splicing	PTPRM(NM_002845:exon21:c.2918-1G>T;NM_001105244:exon23:c.2957-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.2918-1G>T;ENST00000580170:exon23:c.2957-1G>T;ENST00000400060:exon23:c.2960-1G>T;ENST00000400053:exon21:c.2732-1G>T;ENST00000444013:exon17:c.2279-1G>T)	.	.	0.999990361384395	0.938
18	8343421	G	A	18	8343423	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.G2918A:p.G973E;PTPRM:NM_001105244:exon23:c.G2957A:p.G986E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G2918A:p.G973E;ENSG00000173482:ENST00000580170:exon23:c.G2957A:p.G986E;ENSG00000173482:ENST00000400060:exon23:c.G2960A:p.G987E;ENSG00000173482:ENST00000444013:exon17:c.G2279A:p.G760E;ENSG00000173482:ENST00000400053:exon21:c.G2732A:p.G911E;	0.999639887464264	0.872
18	8343421	G	C	18	8343423	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.G2918C:p.G973A;PTPRM:NM_001105244:exon23:c.G2957C:p.G986A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G2918C:p.G973A;ENSG00000173482:ENST00000580170:exon23:c.G2957C:p.G986A;ENSG00000173482:ENST00000400060:exon23:c.G2960C:p.G987A;ENSG00000173482:ENST00000444013:exon17:c.G2279C:p.G760A;ENSG00000173482:ENST00000400053:exon21:c.G2732C:p.G911A;	0.999279125121264	0.904
18	8343421	G	T	18	8343423	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.G2918T:p.G973V;PTPRM:NM_001105244:exon23:c.G2957T:p.G986V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G2918T:p.G973V;ENSG00000173482:ENST00000580170:exon23:c.G2957T:p.G986V;ENSG00000173482:ENST00000400060:exon23:c.G2960T:p.G987V;ENSG00000173482:ENST00000444013:exon17:c.G2279T:p.G760V;ENSG00000173482:ENST00000400053:exon21:c.G2732T:p.G911V;	0.999662649384203	0.992
18	8343422	G	A	18	8343424	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon21:c.G2919A:p.G973G;PTPRM:NM_001105244:exon23:c.G2958A:p.G986G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G2919A:p.G973G;ENSG00000173482:ENST00000580170:exon23:c.G2958A:p.G986G;ENSG00000173482:ENST00000400060:exon23:c.G2961A:p.G987G;ENSG00000173482:ENST00000444013:exon17:c.G2280A:p.G760G;ENSG00000173482:ENST00000400053:exon21:c.G2733A:p.G911G;	8.80911663408407E-5	0.008
18	8343422	G	C	18	8343424	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon21:c.G2919C:p.G973G;PTPRM:NM_001105244:exon23:c.G2958C:p.G986G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G2919C:p.G973G;ENSG00000173482:ENST00000580170:exon23:c.G2958C:p.G986G;ENSG00000173482:ENST00000400060:exon23:c.G2961C:p.G987G;ENSG00000173482:ENST00000444013:exon17:c.G2280C:p.G760G;ENSG00000173482:ENST00000400053:exon21:c.G2733C:p.G911G;	1.15191502716778E-4	0.018
18	8343422	G	T	18	8343424	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon21:c.G2919T:p.G973G;PTPRM:NM_001105244:exon23:c.G2958T:p.G986G;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G2919T:p.G973G;ENSG00000173482:ENST00000580170:exon23:c.G2958T:p.G986G;ENSG00000173482:ENST00000400060:exon23:c.G2961T:p.G987G;ENSG00000173482:ENST00000444013:exon17:c.G2280T:p.G760G;ENSG00000173482:ENST00000400053:exon21:c.G2733T:p.G911G;	1.31664325613719E-4	0.0
18	8343516	A	C	18	8343518	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon21:c.A3013C:p.R1005R;PTPRM:NM_001105244:exon23:c.A3052C:p.R1018R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.A3013C:p.R1005R;ENSG00000173482:ENST00000580170:exon23:c.A3052C:p.R1018R;ENSG00000173482:ENST00000400060:exon23:c.A3055C:p.R1019R;ENSG00000173482:ENST00000444013:exon17:c.A2374C:p.R792R;ENSG00000173482:ENST00000400053:exon21:c.A2827C:p.R943R;	5.04575260951996E-5	0.004
18	8343516	A	G	18	8343518	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.A3013G:p.R1005G;PTPRM:NM_001105244:exon23:c.A3052G:p.R1018G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.A3013G:p.R1005G;ENSG00000173482:ENST00000580170:exon23:c.A3052G:p.R1018G;ENSG00000173482:ENST00000400060:exon23:c.A3055G:p.R1019G;ENSG00000173482:ENST00000444013:exon17:c.A2374G:p.R792G;ENSG00000173482:ENST00000400053:exon21:c.A2827G:p.R943G;	9.92223369043627E-4	0.074
18	8343516	A	T	18	8343518	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.A3013T:p.R1005W;PTPRM:NM_001105244:exon23:c.A3052T:p.R1018W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.A3013T:p.R1005W;ENSG00000173482:ENST00000580170:exon23:c.A3052T:p.R1018W;ENSG00000173482:ENST00000400060:exon23:c.A3055T:p.R1019W;ENSG00000173482:ENST00000444013:exon17:c.A2374T:p.R792W;ENSG00000173482:ENST00000400053:exon21:c.A2827T:p.R943W;	0.0183044025344198	0.238
18	8343517	G	A	18	8343519	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.G3014A:p.R1005K;PTPRM:NM_001105244:exon23:c.G3053A:p.R1018K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G3014A:p.R1005K;ENSG00000173482:ENST00000580170:exon23:c.G3053A:p.R1018K;ENSG00000173482:ENST00000400060:exon23:c.G3056A:p.R1019K;ENSG00000173482:ENST00000444013:exon17:c.G2375A:p.R792K;ENSG00000173482:ENST00000400053:exon21:c.G2828A:p.R943K;	0.962601000731202	0.664
18	8343517	G	C	18	8343519	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.G3014C:p.R1005T;PTPRM:NM_001105244:exon23:c.G3053C:p.R1018T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G3014C:p.R1005T;ENSG00000173482:ENST00000580170:exon23:c.G3053C:p.R1018T;ENSG00000173482:ENST00000400060:exon23:c.G3056C:p.R1019T;ENSG00000173482:ENST00000444013:exon17:c.G2375C:p.R792T;ENSG00000173482:ENST00000400053:exon21:c.G2828C:p.R943T;	0.990233337001961	0.934
18	8343517	G	T	18	8343519	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.G3014T:p.R1005M;PTPRM:NM_001105244:exon23:c.G3053T:p.R1018M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G3014T:p.R1005M;ENSG00000173482:ENST00000580170:exon23:c.G3053T:p.R1018M;ENSG00000173482:ENST00000400060:exon23:c.G3056T:p.R1019M;ENSG00000173482:ENST00000444013:exon17:c.G2375T:p.R792M;ENSG00000173482:ENST00000400053:exon21:c.G2828T:p.R943M;	0.992405555802898	0.894
18	8343518	G	A	18	8343520	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon21:c.G3015A:p.R1005R;PTPRM:NM_001105244:exon23:c.G3054A:p.R1018R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G3015A:p.R1005R;ENSG00000173482:ENST00000580170:exon23:c.G3054A:p.R1018R;ENSG00000173482:ENST00000400060:exon23:c.G3057A:p.R1019R;ENSG00000173482:ENST00000444013:exon17:c.G2376A:p.R792R;ENSG00000173482:ENST00000400053:exon21:c.G2829A:p.R943R;	0.992065986389826	0.808
18	8343518	G	C	18	8343520	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.G3015C:p.R1005S;PTPRM:NM_001105244:exon23:c.G3054C:p.R1018S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G3015C:p.R1005S;ENSG00000173482:ENST00000580170:exon23:c.G3054C:p.R1018S;ENSG00000173482:ENST00000400060:exon23:c.G3057C:p.R1019S;ENSG00000173482:ENST00000444013:exon17:c.G2376C:p.R792S;ENSG00000173482:ENST00000400053:exon21:c.G2829C:p.R943S;	0.999801938256862	0.916
18	8343518	G	T	18	8343520	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon21:c.G3015T:p.R1005S;PTPRM:NM_001105244:exon23:c.G3054T:p.R1018S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon21:c.G3015T:p.R1005S;ENSG00000173482:ENST00000580170:exon23:c.G3054T:p.R1018S;ENSG00000173482:ENST00000400060:exon23:c.G3057T:p.R1019S;ENSG00000173482:ENST00000444013:exon17:c.G2376T:p.R792S;ENSG00000173482:ENST00000400053:exon21:c.G2829T:p.R943S;	0.999804925183242	0.97
18	8343519	G	A	18	8343521	y	y	splicing	PTPRM(NM_002845:exon21:c.3015+1G>A;NM_001105244:exon23:c.3054+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.3015+1G>A;ENST00000580170:exon23:c.3054+1G>A;ENST00000400060:exon23:c.3057+1G>A;ENST00000400053:exon21:c.2829+1G>A;ENST00000444013:exon17:c.2376+1G>A)	.	.	0.999990361384395	0.938
18	8343519	G	C	18	8343521	y	y	splicing	PTPRM(NM_002845:exon21:c.3015+1G>C;NM_001105244:exon23:c.3054+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.3015+1G>C;ENST00000580170:exon23:c.3054+1G>C;ENST00000400060:exon23:c.3057+1G>C;ENST00000400053:exon21:c.2829+1G>C;ENST00000444013:exon17:c.2376+1G>C)	.	.	0.999990361384395	0.938
18	8343519	G	T	18	8343521	y	y	splicing	PTPRM(NM_002845:exon21:c.3015+1G>T;NM_001105244:exon23:c.3054+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.3015+1G>T;ENST00000580170:exon23:c.3054+1G>T;ENST00000400060:exon23:c.3057+1G>T;ENST00000400053:exon21:c.2829+1G>T;ENST00000444013:exon17:c.2376+1G>T)	.	.	0.999990361384395	0.938
18	8343520	T	A	18	8343522	y	y	splicing	PTPRM(NM_002845:exon21:c.3015+2T>A;NM_001105244:exon23:c.3054+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.3015+2T>A;ENST00000580170:exon23:c.3054+2T>A;ENST00000400060:exon23:c.3057+2T>A;ENST00000400053:exon21:c.2829+2T>A;ENST00000444013:exon17:c.2376+2T>A)	.	.	0.999988247793601	0.93
18	8343520	T	C	18	8343522	y	y	splicing	PTPRM(NM_002845:exon21:c.3015+2T>C;NM_001105244:exon23:c.3054+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.3015+2T>C;ENST00000580170:exon23:c.3054+2T>C;ENST00000400060:exon23:c.3057+2T>C;ENST00000400053:exon21:c.2829+2T>C;ENST00000444013:exon17:c.2376+2T>C)	.	.	0.999929727175276	0.87
18	8343520	T	G	18	8343522	y	y	splicing	PTPRM(NM_002845:exon21:c.3015+2T>G;NM_001105244:exon23:c.3054+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon21:c.3015+2T>G;ENST00000580170:exon23:c.3054+2T>G;ENST00000400060:exon23:c.3057+2T>G;ENST00000400053:exon21:c.2829+2T>G;ENST00000444013:exon17:c.2376+2T>G)	.	.	0.999988247793601	0.93
18	8343521	G	A	18	8343523	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.19644542469703E-5	0.002
18	8343521	G	C	18	8343523	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.80734220536718	0.7
18	8343521	G	T	18	8343523	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.668720660179151	0.674
18	8343522	A	C	18	8343524	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.925864272472836	0.766
18	8343522	A	G	18	8343524	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99688045736081	0.79
18	8343522	A	T	18	8343524	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.994324101400933	0.908
18	8343523	G	A	18	8343525	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99990523818802	0.93
18	8343523	G	C	18	8343525	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999940324954534	0.95
18	8343523	G	T	18	8343525	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999845433512737	0.914
18	8343524	T	A	18	8343526	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0284650596457463	0.136
18	8343524	T	C	18	8343526	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0121219817491916	0.074
18	8343524	T	G	18	8343526	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00101078695041305	0.07
18	8343525	G	A	18	8343527	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.87394847400842E-5	0.002
18	8343525	G	C	18	8343527	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.87394847400842E-5	0.004
18	8343525	G	T	18	8343527	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.14720235371151E-5	0.002
18	8343526	G	A	18	8343528	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.64179267191333E-5	0.0
18	8343526	G	C	18	8343528	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.52155485145495E-5	0.0
18	8343526	G	T	18	8343528	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.52155485145495E-5	0.0
18	8370876	T	A	18	8370878	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.9999784165296	0.956
18	8370876	T	C	18	8370878	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.500438856592335	0.498
18	8370876	T	G	18	8370878	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999944665818664	0.948
18	8370877	G	A	18	8370879	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.14570340964042E-4	0.214
18	8370877	G	C	18	8370879	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.14713420342717E-4	0.22
18	8370877	G	T	18	8370879	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.99471081411375E-4	0.28
18	8370878	T	A	18	8370880	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999044217618556	0.902
18	8370878	T	C	18	8370880	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.585319766352599	0.616
18	8370878	T	G	18	8370880	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997329122605465	0.872
18	8370879	T	A	18	8370881	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997810233516594	0.878
18	8370879	T	C	18	8370881	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.499711960663189	0.512
18	8370879	T	G	18	8370881	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998860215654268	0.864
18	8370880	T	A	18	8370882	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.13302159827045	0.384
18	8370880	T	C	18	8370882	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.63808697823765E-4	0.0
18	8370880	T	G	18	8370882	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0327680802990683	0.304
18	8370881	T	A	18	8370883	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.883743038866436	0.798
18	8370881	T	C	18	8370883	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.99210843078372E-4	0.02
18	8370881	T	G	18	8370883	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.697699104261869	0.716
18	8370882	C	A	18	8370884	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.011891426038736	0.26
18	8370882	C	G	18	8370884	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0194583160715758	0.308
18	8370882	C	T	18	8370884	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.46224892775553E-4	0.002
18	8370883	T	A	18	8370885	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.990155567894508	0.862
18	8370883	T	C	18	8370885	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0569769942395619	0.124
18	8370883	T	G	18	8370885	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.98594918841576	0.852
18	8370884	A	C	18	8370886	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.92061803851947E-4	0.006
18	8370884	A	G	18	8370886	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.87600241505134E-4	0.03
18	8370884	A	T	18	8370886	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.25571740595058E-4	0.01
18	8370885	A	C	18	8370887	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.97845728318295E-4	0.14
18	8370885	A	G	18	8370887	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.839260385173154	0.516
18	8370885	A	T	18	8370887	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00148590658127392	0.122
18	8370886	A	C	18	8370888	y	y	splicing	PTPRM(NM_002845:exon22:c.3016-2A>C;NM_001105244:exon24:c.3055-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3016-2A>C;ENST00000580170:exon24:c.3055-2A>C;ENST00000400060:exon24:c.3058-2A>C;ENST00000400053:exon22:c.2830-2A>C;ENST00000444013:exon18:c.2377-2A>C)	.	.	0.999988247793601	0.93
18	8370886	A	G	18	8370888	y	y	splicing	PTPRM(NM_002845:exon22:c.3016-2A>G;NM_001105244:exon24:c.3055-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3016-2A>G;ENST00000580170:exon24:c.3055-2A>G;ENST00000400060:exon24:c.3058-2A>G;ENST00000400053:exon22:c.2830-2A>G;ENST00000444013:exon18:c.2377-2A>G)	.	.	0.999988247793601	0.93
18	8370886	A	T	18	8370888	y	y	splicing	PTPRM(NM_002845:exon22:c.3016-2A>T;NM_001105244:exon24:c.3055-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3016-2A>T;ENST00000580170:exon24:c.3055-2A>T;ENST00000400060:exon24:c.3058-2A>T;ENST00000400053:exon22:c.2830-2A>T;ENST00000444013:exon18:c.2377-2A>T)	.	.	0.999988247793601	0.93
18	8370887	G	A	18	8370889	y	y	splicing	PTPRM(NM_002845:exon22:c.3016-1G>A;NM_001105244:exon24:c.3055-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3016-1G>A;ENST00000580170:exon24:c.3055-1G>A;ENST00000400060:exon24:c.3058-1G>A;ENST00000400053:exon22:c.2830-1G>A;ENST00000444013:exon18:c.2377-1G>A)	.	.	0.999990361384395	0.938
18	8370887	G	C	18	8370889	y	y	splicing	PTPRM(NM_002845:exon22:c.3016-1G>C;NM_001105244:exon24:c.3055-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3016-1G>C;ENST00000580170:exon24:c.3055-1G>C;ENST00000400060:exon24:c.3058-1G>C;ENST00000400053:exon22:c.2830-1G>C;ENST00000444013:exon18:c.2377-1G>C)	.	.	0.999990361384395	0.938
18	8370887	G	T	18	8370889	y	y	splicing	PTPRM(NM_002845:exon22:c.3016-1G>T;NM_001105244:exon24:c.3055-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3016-1G>T;ENST00000580170:exon24:c.3055-1G>T;ENST00000400060:exon24:c.3058-1G>T;ENST00000400053:exon22:c.2830-1G>T;ENST00000444013:exon18:c.2377-1G>T)	.	.	0.999990361384395	0.938
18	8370888	G	A	18	8370890	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.G3016A:p.V1006I;PTPRM:NM_001105244:exon24:c.G3055A:p.V1019I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.G3016A:p.V1006I;ENSG00000173482:ENST00000580170:exon24:c.G3055A:p.V1019I;ENSG00000173482:ENST00000400060:exon24:c.G3058A:p.V1020I;ENSG00000173482:ENST00000444013:exon18:c.G2377A:p.V793I;ENSG00000173482:ENST00000400053:exon22:c.G2830A:p.V944I;	0.998548332304652	0.91
18	8370888	G	C	18	8370890	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.G3016C:p.V1006L;PTPRM:NM_001105244:exon24:c.G3055C:p.V1019L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.G3016C:p.V1006L;ENSG00000173482:ENST00000580170:exon24:c.G3055C:p.V1019L;ENSG00000173482:ENST00000400060:exon24:c.G3058C:p.V1020L;ENSG00000173482:ENST00000444013:exon18:c.G2377C:p.V793L;ENSG00000173482:ENST00000400053:exon22:c.G2830C:p.V944L;	0.999541478559793	0.97
18	8370888	G	T	18	8370890	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.G3016T:p.V1006F;PTPRM:NM_001105244:exon24:c.G3055T:p.V1019F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.G3016T:p.V1006F;ENSG00000173482:ENST00000580170:exon24:c.G3055T:p.V1019F;ENSG00000173482:ENST00000400060:exon24:c.G3058T:p.V1020F;ENSG00000173482:ENST00000444013:exon18:c.G2377T:p.V793F;ENSG00000173482:ENST00000400053:exon22:c.G2830T:p.V944F;	0.999826936146036	1.0
18	8370889	T	A	18	8370891	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.T3017A:p.V1006D;PTPRM:NM_001105244:exon24:c.T3056A:p.V1019D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.T3017A:p.V1006D;ENSG00000173482:ENST00000580170:exon24:c.T3056A:p.V1019D;ENSG00000173482:ENST00000400060:exon24:c.T3059A:p.V1020D;ENSG00000173482:ENST00000444013:exon18:c.T2378A:p.V793D;ENSG00000173482:ENST00000400053:exon22:c.T2831A:p.V944D;	0.848152017061368	0.598
18	8370889	T	C	18	8370891	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.T3017C:p.V1006A;PTPRM:NM_001105244:exon24:c.T3056C:p.V1019A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.T3017C:p.V1006A;ENSG00000173482:ENST00000580170:exon24:c.T3056C:p.V1019A;ENSG00000173482:ENST00000400060:exon24:c.T3059C:p.V1020A;ENSG00000173482:ENST00000444013:exon18:c.T2378C:p.V793A;ENSG00000173482:ENST00000400053:exon22:c.T2831C:p.V944A;	0.601258790952118	0.618
18	8370889	T	G	18	8370891	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.T3017G:p.V1006G;PTPRM:NM_001105244:exon24:c.T3056G:p.V1019G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.T3017G:p.V1006G;ENSG00000173482:ENST00000580170:exon24:c.T3056G:p.V1019G;ENSG00000173482:ENST00000400060:exon24:c.T3059G:p.V1020G;ENSG00000173482:ENST00000444013:exon18:c.T2378G:p.V793G;ENSG00000173482:ENST00000400053:exon22:c.T2831G:p.V944G;	0.601258790952118	0.626
18	8371002	A	C	18	8371004	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.A3130C:p.K1044Q;PTPRM:NM_001105244:exon24:c.A3169C:p.K1057Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.A3130C:p.K1044Q;ENSG00000173482:ENST00000580170:exon24:c.A3169C:p.K1057Q;ENSG00000173482:ENST00000400060:exon24:c.A3172C:p.K1058Q;ENSG00000173482:ENST00000444013:exon18:c.A2491C:p.K831Q;ENSG00000173482:ENST00000400053:exon22:c.A2944C:p.K982Q;	0.883122925276982	0.646
18	8371002	A	G	18	8371004	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.A3130G:p.K1044E;PTPRM:NM_001105244:exon24:c.A3169G:p.K1057E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.A3130G:p.K1044E;ENSG00000173482:ENST00000580170:exon24:c.A3169G:p.K1057E;ENSG00000173482:ENST00000400060:exon24:c.A3172G:p.K1058E;ENSG00000173482:ENST00000444013:exon18:c.A2491G:p.K831E;ENSG00000173482:ENST00000400053:exon22:c.A2944G:p.K982E;	0.590172223890029	0.468
18	8371002	A	T	18	8371004	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon22:c.A3130T:p.K1044X;PTPRM:NM_001105244:exon24:c.A3169T:p.K1057X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon22:c.A3130T:p.K1044X;ENSG00000173482:ENST00000580170:exon24:c.A3169T:p.K1057X;ENSG00000173482:ENST00000400060:exon24:c.A3172T:p.K1058X;ENSG00000173482:ENST00000444013:exon18:c.A2491T:p.K831X;ENSG00000173482:ENST00000400053:exon22:c.A2944T:p.K982X;	0.984935311945926	0.664
18	8371003	A	C	18	8371005	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.A3131C:p.K1044T;PTPRM:NM_001105244:exon24:c.A3170C:p.K1057T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.A3131C:p.K1044T;ENSG00000173482:ENST00000580170:exon24:c.A3170C:p.K1057T;ENSG00000173482:ENST00000400060:exon24:c.A3173C:p.K1058T;ENSG00000173482:ENST00000444013:exon18:c.A2492C:p.K831T;ENSG00000173482:ENST00000400053:exon22:c.A2945C:p.K982T;	0.985249022983246	0.694
18	8371003	A	G	18	8371005	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.A3131G:p.K1044R;PTPRM:NM_001105244:exon24:c.A3170G:p.K1057R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.A3131G:p.K1044R;ENSG00000173482:ENST00000580170:exon24:c.A3170G:p.K1057R;ENSG00000173482:ENST00000400060:exon24:c.A3173G:p.K1058R;ENSG00000173482:ENST00000444013:exon18:c.A2492G:p.K831R;ENSG00000173482:ENST00000400053:exon22:c.A2945G:p.K982R;	0.383514889328979	0.37
18	8371003	A	T	18	8371005	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.A3131T:p.K1044M;PTPRM:NM_001105244:exon24:c.A3170T:p.K1057M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.A3131T:p.K1044M;ENSG00000173482:ENST00000580170:exon24:c.A3170T:p.K1057M;ENSG00000173482:ENST00000400060:exon24:c.A3173T:p.K1058M;ENSG00000173482:ENST00000444013:exon18:c.A2492T:p.K831M;ENSG00000173482:ENST00000400053:exon22:c.A2945T:p.K982M;	0.985249022983246	0.632
18	8371004	G	A	18	8371006	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon22:c.G3132A:p.K1044K;PTPRM:NM_001105244:exon24:c.G3171A:p.K1057K;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.G3132A:p.K1044K;ENSG00000173482:ENST00000580170:exon24:c.G3171A:p.K1057K;ENSG00000173482:ENST00000400060:exon24:c.G3174A:p.K1058K;ENSG00000173482:ENST00000444013:exon18:c.G2493A:p.K831K;ENSG00000173482:ENST00000400053:exon22:c.G2946A:p.K982K;	0.999586005765905	0.854
18	8371004	G	C	18	8371006	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.G3132C:p.K1044N;PTPRM:NM_001105244:exon24:c.G3171C:p.K1057N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.G3132C:p.K1044N;ENSG00000173482:ENST00000580170:exon24:c.G3171C:p.K1057N;ENSG00000173482:ENST00000400060:exon24:c.G3174C:p.K1058N;ENSG00000173482:ENST00000444013:exon18:c.G2493C:p.K831N;ENSG00000173482:ENST00000400053:exon22:c.G2946C:p.K982N;	0.999611918666435	0.892
18	8371004	G	T	18	8371006	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon22:c.G3132T:p.K1044N;PTPRM:NM_001105244:exon24:c.G3171T:p.K1057N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon22:c.G3132T:p.K1044N;ENSG00000173482:ENST00000580170:exon24:c.G3171T:p.K1057N;ENSG00000173482:ENST00000400060:exon24:c.G3174T:p.K1058N;ENSG00000173482:ENST00000444013:exon18:c.G2493T:p.K831N;ENSG00000173482:ENST00000400053:exon22:c.G2946T:p.K982N;	0.999864311174066	0.91
18	8371005	G	A	18	8371007	y	y	splicing	PTPRM(NM_002845:exon22:c.3132+1G>A;NM_001105244:exon24:c.3171+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3132+1G>A;ENST00000580170:exon24:c.3171+1G>A;ENST00000400060:exon24:c.3174+1G>A;ENST00000400053:exon22:c.2946+1G>A;ENST00000444013:exon18:c.2493+1G>A;ENST00000583153:exon1:c.74+1G>A)	.	.	0.999990361384395	0.938
18	8371005	G	C	18	8371007	y	y	splicing	PTPRM(NM_002845:exon22:c.3132+1G>C;NM_001105244:exon24:c.3171+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3132+1G>C;ENST00000580170:exon24:c.3171+1G>C;ENST00000400060:exon24:c.3174+1G>C;ENST00000400053:exon22:c.2946+1G>C;ENST00000444013:exon18:c.2493+1G>C;ENST00000583153:exon1:c.74+1G>C)	.	.	0.999990361384395	0.938
18	8371005	G	T	18	8371007	y	y	splicing	PTPRM(NM_002845:exon22:c.3132+1G>T;NM_001105244:exon24:c.3171+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3132+1G>T;ENST00000580170:exon24:c.3171+1G>T;ENST00000400060:exon24:c.3174+1G>T;ENST00000400053:exon22:c.2946+1G>T;ENST00000444013:exon18:c.2493+1G>T;ENST00000583153:exon1:c.74+1G>T)	.	.	0.999990361384395	0.938
18	8371006	T	A	18	8371008	y	y	splicing	PTPRM(NM_002845:exon22:c.3132+2T>A;NM_001105244:exon24:c.3171+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3132+2T>A;ENST00000580170:exon24:c.3171+2T>A;ENST00000400060:exon24:c.3174+2T>A;ENST00000400053:exon22:c.2946+2T>A;ENST00000444013:exon18:c.2493+2T>A;ENST00000583153:exon1:c.74+2T>A)	.	.	0.999988247793601	0.932
18	8371006	T	C	18	8371008	y	y	splicing	PTPRM(NM_002845:exon22:c.3132+2T>C;NM_001105244:exon24:c.3171+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3132+2T>C;ENST00000580170:exon24:c.3171+2T>C;ENST00000400060:exon24:c.3174+2T>C;ENST00000400053:exon22:c.2946+2T>C;ENST00000444013:exon18:c.2493+2T>C;ENST00000583153:exon1:c.74+2T>C)	.	.	0.992783534660112	0.66
18	8371006	T	G	18	8371008	y	y	splicing	PTPRM(NM_002845:exon22:c.3132+2T>G;NM_001105244:exon24:c.3171+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon22:c.3132+2T>G;ENST00000580170:exon24:c.3171+2T>G;ENST00000400060:exon24:c.3174+2T>G;ENST00000400053:exon22:c.2946+2T>G;ENST00000444013:exon18:c.2493+2T>G;ENST00000583153:exon1:c.74+2T>G)	.	.	0.999988247793601	0.932
18	8371007	A	C	18	8371009	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997547467385064	0.942
18	8371007	A	G	18	8371009	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.740530719760218	0.452
18	8371007	A	T	18	8371009	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.995895231071814	0.914
18	8371008	A	C	18	8371010	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.111111147858426	0.328
18	8371008	A	G	18	8371010	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.179301834537138	0.3
18	8371008	A	T	18	8371010	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0766479947045712	0.306
18	8371009	G	A	18	8371011	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998906032577701	0.78
18	8371009	G	C	18	8371011	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.984201922866767	0.73
18	8371009	G	T	18	8371011	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.991357689539116	0.746
18	8371010	T	A	18	8371012	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00730246032167004	0.22
18	8371010	T	C	18	8371012	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00673772766107297	0.176
18	8371010	T	G	18	8371012	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00111299888750752	0.124
18	8371011	T	A	18	8371013	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.34737869110726E-4	0.0
18	8371011	T	C	18	8371013	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.02124151213449E-4	0.008
18	8371011	T	G	18	8371013	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.38720093037666E-5	0.0
18	8371012	T	A	18	8371014	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0069180409540431	0.044
18	8371012	T	C	18	8371014	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0069180409540431	0.044
18	8371012	T	G	18	8371014	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0069180409540431	0.036
18	8371746	C	A	18	8371748	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.494918124490487	0.596
18	8371746	C	G	18	8371748	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.494918124490487	0.596
18	8371746	C	T	18	8371748	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.494918124490487	0.594
18	8371747	T	A	18	8371749	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00328307233366372	0.238
18	8371747	T	C	18	8371749	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00328307233366372	0.246
18	8371747	T	G	18	8371749	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00328307233366372	0.244
18	8371748	G	A	18	8371750	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992582827656597	0.926
18	8371748	G	C	18	8371750	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992582827656597	0.928
18	8371748	G	T	18	8371750	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992582827656597	0.926
18	8371749	C	A	18	8371751	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992582827656597	0.926
18	8371749	C	G	18	8371751	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992582827656597	0.928
18	8371749	C	T	18	8371751	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992582827656597	0.926
18	8371750	T	A	18	8371752	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00133414964176908	0.0
18	8371750	T	C	18	8371752	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147476233483463	0.0
18	8371750	T	G	18	8371752	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147476233483463	0.0
18	8371751	G	A	18	8371753	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0544652403886408	0.08
18	8371751	G	C	18	8371753	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0358006737300201	0.066
18	8371751	G	T	18	8371753	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0358006737300201	0.064
18	8371752	A	C	18	8371754	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0264231500395679	0.076
18	8371752	A	G	18	8371754	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0264231500395679	0.076
18	8371752	A	T	18	8371754	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0315711839617418	0.138
18	8371753	C	A	18	8371755	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0358006737300201	0.066
18	8371753	C	G	18	8371755	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0358006737300201	0.064
18	8371753	C	T	18	8371755	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0544652403886408	0.078
18	8371754	A	C	18	8371756	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147476233483463	0.0
18	8371754	A	G	18	8371756	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00123321101887118	0.0
18	8371754	A	T	18	8371756	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147476233483463	0.0
18	8371755	T	A	18	8371757	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00133414964176908	0.002
18	8371755	T	C	18	8371757	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147476233483463	0.0
18	8371755	T	G	18	8371757	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147476233483463	0.0
18	8371756	A	C	18	8371758	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.75-2A>C)	.	.	0.00701936712456089	0.06
18	8371756	A	G	18	8371758	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.75-2A>G)	.	.	0.00701936712456089	0.06
18	8371756	A	T	18	8371758	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.75-2A>T)	.	.	0.0102106360961895	0.102
18	8371757	G	A	18	8371759	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.75-1G>A)	.	.	0.14668749553767	0.36
18	8371757	G	C	18	8371759	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.75-1G>C)	.	.	0.0696698100269598	0.266
18	8371757	G	T	18	8371759	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.75-1G>T)	.	.	0.0696698100269598	0.282
18	8371758	G	A	18	8371760	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0343998936554931	0.058
18	8371758	G	C	18	8371760	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0203041913402469	0.06
18	8371758	G	T	18	8371760	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.99473635760537	0.944
18	8371759	G	A	18	8371761	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.00244344124916092	0.022
18	8371759	G	C	18	8371761	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.00165246715192003	0.02
18	8371759	G	T	18	8371761	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.00122776261611814	0.018
18	8371806	C	A	18	8371808	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0358006737300201	0.066
18	8371806	C	G	18	8371808	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0203041913402469	0.062
18	8371806	C	T	18	8371808	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.99473635760537	0.944
18	8371807	A	C	18	8371809	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.00712145416375606	0.016
18	8371807	A	G	18	8371809	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.012179125450082	0.024
18	8371807	A	T	18	8371809	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0126869538811265	0.028
18	8371808	G	A	18	8371810	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0860892350150024	0.202
18	8371808	G	C	18	8371810	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0203041913402469	0.058
18	8371808	G	T	18	8371810	n	y	intronic	PTPRM	.	.	exonic	ENSG00000173482	unknown	UNKNOWN	0.0203041913402469	0.074
18	8371809	G	A	18	8371811	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.125+1G>A)	.	.	0.992474646220614	0.874
18	8371809	G	C	18	8371811	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.125+1G>C)	.	.	0.992474646220614	0.884
18	8371809	G	T	18	8371811	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.125+1G>T)	.	.	0.992474646220614	0.88
18	8371810	T	A	18	8371812	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.125+2T>A)	.	.	0.0270527422625587	0.142
18	8371810	T	C	18	8371812	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.125+2T>C)	.	.	0.0119639963812225	0.142
18	8371810	T	G	18	8371812	n	y	intronic	PTPRM	.	.	splicing	ENSG00000173482(ENST00000583153:exon2:c.125+2T>G)	.	.	0.0248032300887585	0.158
18	8371811	A	C	18	8371813	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00133414964176908	0.0
18	8371811	A	G	18	8371813	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00133414964176908	0.0
18	8371811	A	T	18	8371813	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00133414964176908	0.0
18	8371812	G	A	18	8371814	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.53478596944822E-4	0.012
18	8371812	G	C	18	8371814	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.97291650160744E-4	0.012
18	8371812	G	T	18	8371814	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.97291650160744E-4	0.012
18	8371813	G	A	18	8371815	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0860892350150024	0.2
18	8371813	G	C	18	8371815	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0727189543524889	0.082
18	8371813	G	T	18	8371815	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0727189543524889	0.126
18	8371814	C	A	18	8371816	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0267275074045045	0.058
18	8371814	C	G	18	8371816	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0173934650022037	0.044
18	8371814	C	T	18	8371816	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0360394046134057	0.068
18	8371815	T	A	18	8371817	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.5672911410081E-4	0.014
18	8371815	T	C	18	8371817	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.04912830756687E-4	0.01
18	8371815	T	G	18	8371817	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.04912830756687E-4	0.01
18	8371816	C	A	18	8371818	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.13563380370127E-4	0.1
18	8371816	C	G	18	8371818	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.90610216510277E-4	0.106
18	8371816	C	T	18	8371818	n	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.13563380370127E-4	0.094
18	8376032	C	A	18	8376034	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.74756556913591E-4	0.122
18	8376032	C	G	18	8376034	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147009357780016	0.094
18	8376032	C	T	18	8376034	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.85514162529084E-5	0.028
18	8376033	A	C	18	8376035	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.09746192861186E-4	0.042
18	8376033	A	G	18	8376035	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.38261228946784E-4	0.136
18	8376033	A	T	18	8376035	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.69522482833318E-4	0.122
18	8376034	A	C	18	8376036	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.63615846840568E-5	0.016
18	8376034	A	G	18	8376036	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999094523546314	0.89
18	8376034	A	T	18	8376036	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.38051740537446E-4	0.064
18	8376035	C	A	18	8376037	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.82937997226642E-4	0.108
18	8376035	C	G	18	8376037	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998892900641357	0.924
18	8376035	C	T	18	8376037	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.1427048244218E-5	0.08
18	8376036	T	A	18	8376038	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.37319327536364E-4	0.156
18	8376036	T	C	18	8376038	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.8007051760275E-6	0.04
18	8376036	T	G	18	8376038	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00375653295166633	0.374
18	8376037	A	C	18	8376039	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.5351581291727E-4	0.04
18	8376037	A	G	18	8376039	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00440593504457984	0.06
18	8376037	A	T	18	8376039	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.70739854357288E-4	0.048
18	8376038	C	A	18	8376040	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0100378274068271	0.312
18	8376038	C	G	18	8376040	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.981205023725345	0.846
18	8376038	C	T	18	8376040	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.28773915288657E-5	0.128
18	8376039	T	A	18	8376041	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999720180050113	0.928
18	8376039	T	C	18	8376041	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.63583864747418E-4	0.074
18	8376039	T	G	18	8376041	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.962295435648353	0.616
18	8376040	G	A	18	8376042	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0371656242269187	0.18
18	8376040	G	C	18	8376042	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00483675283899887	0.086
18	8376040	G	T	18	8376042	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00353491781265255	0.158
18	8376041	C	A	18	8376043	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99996873540965	0.946
18	8376041	C	G	18	8376043	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999989723250193	0.946
18	8376041	C	T	18	8376043	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.994133030667869	0.578
18	8376042	A	C	18	8376044	y	y	splicing	PTPRM(NM_002845:exon23:c.3133-2A>C;NM_001105244:exon25:c.3172-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3133-2A>C;ENST00000580170:exon25:c.3172-2A>C;ENST00000400060:exon25:c.3175-2A>C;ENST00000400053:exon23:c.2947-2A>C;ENST00000444013:exon19:c.2494-2A>C;ENST00000583153:exon3:c.126-2A>C)	.	.	0.999914511980801	0.884
18	8376042	A	G	18	8376044	y	y	splicing	PTPRM(NM_002845:exon23:c.3133-2A>G;NM_001105244:exon25:c.3172-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3133-2A>G;ENST00000580170:exon25:c.3172-2A>G;ENST00000400060:exon25:c.3175-2A>G;ENST00000400053:exon23:c.2947-2A>G;ENST00000444013:exon19:c.2494-2A>G;ENST00000583153:exon3:c.126-2A>G)	.	.	0.999914511980801	0.884
18	8376042	A	T	18	8376044	y	y	splicing	PTPRM(NM_002845:exon23:c.3133-2A>T;NM_001105244:exon25:c.3172-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3133-2A>T;ENST00000580170:exon25:c.3172-2A>T;ENST00000400060:exon25:c.3175-2A>T;ENST00000400053:exon23:c.2947-2A>T;ENST00000444013:exon19:c.2494-2A>T;ENST00000583153:exon3:c.126-2A>T)	.	.	0.999914511980801	0.886
18	8376043	G	A	18	8376045	y	y	splicing	PTPRM(NM_002845:exon23:c.3133-1G>A;NM_001105244:exon25:c.3172-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3133-1G>A;ENST00000580170:exon25:c.3172-1G>A;ENST00000400060:exon25:c.3175-1G>A;ENST00000400053:exon23:c.2947-1G>A;ENST00000444013:exon19:c.2494-1G>A;ENST00000583153:exon3:c.126-1G>A)	.	.	0.999978115769202	0.882
18	8376043	G	C	18	8376045	y	y	splicing	PTPRM(NM_002845:exon23:c.3133-1G>C;NM_001105244:exon25:c.3172-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3133-1G>C;ENST00000580170:exon25:c.3172-1G>C;ENST00000400060:exon25:c.3175-1G>C;ENST00000400053:exon23:c.2947-1G>C;ENST00000444013:exon19:c.2494-1G>C;ENST00000583153:exon3:c.126-1G>C)	.	.	0.999978115769202	0.882
18	8376043	G	T	18	8376045	y	y	splicing	PTPRM(NM_002845:exon23:c.3133-1G>T;NM_001105244:exon25:c.3172-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3133-1G>T;ENST00000580170:exon25:c.3172-1G>T;ENST00000400060:exon25:c.3175-1G>T;ENST00000400053:exon23:c.2947-1G>T;ENST00000444013:exon19:c.2494-1G>T;ENST00000583153:exon3:c.126-1G>T)	.	.	0.999978115769202	0.882
18	8376044	A	C	18	8376046	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon23:c.A3133C:p.R1045R;PTPRM:NM_001105244:exon25:c.A3172C:p.R1058R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.A3133C:p.R1045R;ENSG00000173482:ENST00000580170:exon25:c.A3172C:p.R1058R;ENSG00000173482:ENST00000400060:exon25:c.A3175C:p.R1059R;ENSG00000173482:ENST00000444013:exon19:c.A2494C:p.R832R;ENSG00000173482:ENST00000400053:exon23:c.A2947C:p.R983R;	0.0014708061472457	0.056
18	8376044	A	G	18	8376046	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.A3133G:p.R1045G;PTPRM:NM_001105244:exon25:c.A3172G:p.R1058G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.A3133G:p.R1045G;ENSG00000173482:ENST00000580170:exon25:c.A3172G:p.R1058G;ENSG00000173482:ENST00000400060:exon25:c.A3175G:p.R1059G;ENSG00000173482:ENST00000444013:exon19:c.A2494G:p.R832G;ENSG00000173482:ENST00000400053:exon23:c.A2947G:p.R983G;	0.0421786202933131	0.482
18	8376044	A	T	18	8376046	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon23:c.A3133T:p.R1045X;PTPRM:NM_001105244:exon25:c.A3172T:p.R1058X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon23:c.A3133T:p.R1045X;ENSG00000173482:ENST00000580170:exon25:c.A3172T:p.R1058X;ENSG00000173482:ENST00000400060:exon25:c.A3175T:p.R1059X;ENSG00000173482:ENST00000444013:exon19:c.A2494T:p.R832X;ENSG00000173482:ENST00000400053:exon23:c.A2947T:p.R983X;	0.129609955364329	0.416
18	8376045	G	A	18	8376047	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.G3134A:p.R1045K;PTPRM:NM_001105244:exon25:c.G3173A:p.R1058K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.G3134A:p.R1045K;ENSG00000173482:ENST00000580170:exon25:c.G3173A:p.R1058K;ENSG00000173482:ENST00000400060:exon25:c.G3176A:p.R1059K;ENSG00000173482:ENST00000444013:exon19:c.G2495A:p.R832K;ENSG00000173482:ENST00000400053:exon23:c.G2948A:p.R983K;	0.978486626770339	0.732
18	8376045	G	C	18	8376047	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.G3134C:p.R1045T;PTPRM:NM_001105244:exon25:c.G3173C:p.R1058T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.G3134C:p.R1045T;ENSG00000173482:ENST00000580170:exon25:c.G3173C:p.R1058T;ENSG00000173482:ENST00000400060:exon25:c.G3176C:p.R1059T;ENSG00000173482:ENST00000444013:exon19:c.G2495C:p.R832T;ENSG00000173482:ENST00000400053:exon23:c.G2948C:p.R983T;	0.978486626770339	0.766
18	8376045	G	T	18	8376047	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.G3134T:p.R1045I;PTPRM:NM_001105244:exon25:c.G3173T:p.R1058I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.G3134T:p.R1045I;ENSG00000173482:ENST00000580170:exon25:c.G3173T:p.R1058I;ENSG00000173482:ENST00000400060:exon25:c.G3176T:p.R1059I;ENSG00000173482:ENST00000444013:exon19:c.G2495T:p.R832I;ENSG00000173482:ENST00000400053:exon23:c.G2948T:p.R983I;	0.98451134481135	0.89
18	8376196	C	A	18	8376198	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon23:c.C3285A:p.C1095X;PTPRM:NM_001105244:exon25:c.C3324A:p.C1108X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon23:c.C3285A:p.C1095X;ENSG00000173482:ENST00000580170:exon25:c.C3324A:p.C1108X;ENSG00000173482:ENST00000400060:exon25:c.C3327A:p.C1109X;ENSG00000173482:ENST00000444013:exon19:c.C2646A:p.C882X;ENSG00000173482:ENST00000400053:exon23:c.C3099A:p.C1033X;	0.0508909675603352	0.538
18	8376196	C	G	18	8376198	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.C3285G:p.C1095W;PTPRM:NM_001105244:exon25:c.C3324G:p.C1108W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.C3285G:p.C1095W;ENSG00000173482:ENST00000580170:exon25:c.C3324G:p.C1108W;ENSG00000173482:ENST00000400060:exon25:c.C3327G:p.C1109W;ENSG00000173482:ENST00000444013:exon19:c.C2646G:p.C882W;ENSG00000173482:ENST00000400053:exon23:c.C3099G:p.C1033W;	0.0259210832434063	0.324
18	8376196	C	T	18	8376198	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon23:c.C3285T:p.C1095C;PTPRM:NM_001105244:exon25:c.C3324T:p.C1108C;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.C3285T:p.C1095C;ENSG00000173482:ENST00000580170:exon25:c.C3324T:p.C1108C;ENSG00000173482:ENST00000400060:exon25:c.C3327T:p.C1109C;ENSG00000173482:ENST00000444013:exon19:c.C2646T:p.C882C;ENSG00000173482:ENST00000400053:exon23:c.C3099T:p.C1033C;	0.431627375491532	0.278
18	8376197	A	C	18	8376199	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.A3286C:p.S1096R;PTPRM:NM_001105244:exon25:c.A3325C:p.S1109R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.A3286C:p.S1096R;ENSG00000173482:ENST00000580170:exon25:c.A3325C:p.S1109R;ENSG00000173482:ENST00000400060:exon25:c.A3328C:p.S1110R;ENSG00000173482:ENST00000444013:exon19:c.A2647C:p.S883R;ENSG00000173482:ENST00000400053:exon23:c.A3100C:p.S1034R;	0.992744308537289	0.784
18	8376197	A	G	18	8376199	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.A3286G:p.S1096G;PTPRM:NM_001105244:exon25:c.A3325G:p.S1109G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.A3286G:p.S1096G;ENSG00000173482:ENST00000580170:exon25:c.A3325G:p.S1109G;ENSG00000173482:ENST00000400060:exon25:c.A3328G:p.S1110G;ENSG00000173482:ENST00000444013:exon19:c.A2647G:p.S883G;ENSG00000173482:ENST00000400053:exon23:c.A3100G:p.S1034G;	0.99615318004337	0.878
18	8376197	A	T	18	8376199	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.A3286T:p.S1096C;PTPRM:NM_001105244:exon25:c.A3325T:p.S1109C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.A3286T:p.S1096C;ENSG00000173482:ENST00000580170:exon25:c.A3325T:p.S1109C;ENSG00000173482:ENST00000400060:exon25:c.A3328T:p.S1110C;ENSG00000173482:ENST00000444013:exon19:c.A2647T:p.S883C;ENSG00000173482:ENST00000400053:exon23:c.A3100T:p.S1034C;	0.991363840082981	0.546
18	8376198	G	A	18	8376200	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.G3287A:p.S1096N;PTPRM:NM_001105244:exon25:c.G3326A:p.S1109N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.G3287A:p.S1096N;ENSG00000173482:ENST00000580170:exon25:c.G3326A:p.S1109N;ENSG00000173482:ENST00000400060:exon25:c.G3329A:p.S1110N;ENSG00000173482:ENST00000444013:exon19:c.G2648A:p.S883N;ENSG00000173482:ENST00000400053:exon23:c.G3101A:p.S1034N;	0.999798987859682	0.856
18	8376198	G	C	18	8376200	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.G3287C:p.S1096T;PTPRM:NM_001105244:exon25:c.G3326C:p.S1109T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.G3287C:p.S1096T;ENSG00000173482:ENST00000580170:exon25:c.G3326C:p.S1109T;ENSG00000173482:ENST00000400060:exon25:c.G3329C:p.S1110T;ENSG00000173482:ENST00000444013:exon19:c.G2648C:p.S883T;ENSG00000173482:ENST00000400053:exon23:c.G3101C:p.S1034T;	0.999938685050553	0.95
18	8376198	G	T	18	8376200	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon23:c.G3287T:p.S1096I;PTPRM:NM_001105244:exon25:c.G3326T:p.S1109I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon23:c.G3287T:p.S1096I;ENSG00000173482:ENST00000580170:exon25:c.G3326T:p.S1109I;ENSG00000173482:ENST00000400060:exon25:c.G3329T:p.S1110I;ENSG00000173482:ENST00000444013:exon19:c.G2648T:p.S883I;ENSG00000173482:ENST00000400053:exon23:c.G3101T:p.S1034I;	0.999911693773307	0.97
18	8376199	G	A	18	8376201	y	y	splicing	PTPRM(NM_002845:exon23:c.3287+1G>A;NM_001105244:exon25:c.3326+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3287+1G>A;ENST00000580170:exon25:c.3326+1G>A;ENST00000400060:exon25:c.3329+1G>A;ENST00000400053:exon23:c.3101+1G>A;ENST00000444013:exon19:c.2648+1G>A;ENST00000583153:exon3:c.280+1G>A)	.	.	0.999989072007339	0.934
18	8376199	G	C	18	8376201	y	y	splicing	PTPRM(NM_002845:exon23:c.3287+1G>C;NM_001105244:exon25:c.3326+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3287+1G>C;ENST00000580170:exon25:c.3326+1G>C;ENST00000400060:exon25:c.3329+1G>C;ENST00000400053:exon23:c.3101+1G>C;ENST00000444013:exon19:c.2648+1G>C;ENST00000583153:exon3:c.280+1G>C)	.	.	0.999989072007339	0.934
18	8376199	G	T	18	8376201	y	y	splicing	PTPRM(NM_002845:exon23:c.3287+1G>T;NM_001105244:exon25:c.3326+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3287+1G>T;ENST00000580170:exon25:c.3326+1G>T;ENST00000400060:exon25:c.3329+1G>T;ENST00000400053:exon23:c.3101+1G>T;ENST00000444013:exon19:c.2648+1G>T;ENST00000583153:exon3:c.280+1G>T)	.	.	0.999989072007339	0.934
18	8376200	T	A	18	8376202	y	y	splicing	PTPRM(NM_002845:exon23:c.3287+2T>A;NM_001105244:exon25:c.3326+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3287+2T>A;ENST00000580170:exon25:c.3326+2T>A;ENST00000400060:exon25:c.3329+2T>A;ENST00000400053:exon23:c.3101+2T>A;ENST00000444013:exon19:c.2648+2T>A;ENST00000583153:exon3:c.280+2T>A)	.	.	0.999988247793601	0.93
18	8376200	T	C	18	8376202	y	y	splicing	PTPRM(NM_002845:exon23:c.3287+2T>C;NM_001105244:exon25:c.3326+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3287+2T>C;ENST00000580170:exon25:c.3326+2T>C;ENST00000400060:exon25:c.3329+2T>C;ENST00000400053:exon23:c.3101+2T>C;ENST00000444013:exon19:c.2648+2T>C;ENST00000583153:exon3:c.280+2T>C)	.	.	0.997082385503644	0.708
18	8376200	T	G	18	8376202	y	y	splicing	PTPRM(NM_002845:exon23:c.3287+2T>G;NM_001105244:exon25:c.3326+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon23:c.3287+2T>G;ENST00000580170:exon25:c.3326+2T>G;ENST00000400060:exon25:c.3329+2T>G;ENST00000400053:exon23:c.3101+2T>G;ENST00000444013:exon19:c.2648+2T>G;ENST00000583153:exon3:c.280+2T>G)	.	.	0.999988247793601	0.93
18	8376201	A	C	18	8376203	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.835993226554236	0.558
18	8376201	A	G	18	8376203	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0011203919384408	0.116
18	8376201	A	T	18	8376203	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.782419506453473	0.594
18	8376202	A	C	18	8376204	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.318213539089578	0.592
18	8376202	A	G	18	8376204	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.496869852435207	0.618
18	8376202	A	T	18	8376204	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.436736096987876	0.57
18	8376203	G	A	18	8376205	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999810829101701	0.876
18	8376203	G	C	18	8376205	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999293496434696	0.802
18	8376203	G	T	18	8376205	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999710780677955	0.758
18	8376204	C	A	18	8376206	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.65158007408558E-4	0.058
18	8376204	C	G	18	8376206	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.85266289070094E-4	0.092
18	8376204	C	T	18	8376206	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.64249723778968E-5	0.044
18	8376205	A	C	18	8376207	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.81066147398031E-5	0.028
18	8376205	A	G	18	8376207	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.81066147398031E-5	0.02
18	8376205	A	T	18	8376207	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.84805888313804E-5	0.042
18	8376206	G	A	18	8376208	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0258284440828468	0.148
18	8376206	G	C	18	8376208	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0102324701629131	0.072
18	8376206	G	T	18	8376208	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.013096792592944	0.118
18	8376448	C	A	18	8376450	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00519340706993631	0.144
18	8376448	C	G	18	8376450	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.91136764148204E-4	0.114
18	8376448	C	T	18	8376450	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.08944371876839E-5	0.002
18	8376449	T	A	18	8376451	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.127865374264821	0.492
18	8376449	T	C	18	8376451	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00892848346571632	0.262
18	8376449	T	G	18	8376451	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0614386818302141	0.308
18	8376450	T	A	18	8376452	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00579430028357255	0.202
18	8376450	T	C	18	8376452	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.9477457542273E-4	0.052
18	8376450	T	G	18	8376452	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00326858771770352	0.136
18	8376451	T	A	18	8376453	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.941375016826745	0.47
18	8376451	T	C	18	8376453	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.207140868721576	0.4
18	8376451	T	G	18	8376453	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.857468518163209	0.532
18	8376452	T	A	18	8376454	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.39437336944193E-4	0.09
18	8376452	T	C	18	8376454	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.16004483859124E-5	0.012
18	8376452	T	G	18	8376454	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.43514664520262E-4	0.084
18	8376453	C	A	18	8376455	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0669269151357409	0.136
18	8376453	C	G	18	8376455	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0131818796338078	0.148
18	8376453	C	T	18	8376455	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.52308167844915E-4	0.022
18	8376454	A	C	18	8376456	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.95935174347438E-5	0.006
18	8376454	A	G	18	8376456	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.33209766995369E-5	0.008
18	8376454	A	T	18	8376456	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.10939605387647E-5	0.012
18	8376455	T	A	18	8376457	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00124634977204907	0.188
18	8376455	T	C	18	8376457	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.91924690612511E-4	0.036
18	8376455	T	G	18	8376457	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999624749802269	0.848
18	8376456	T	A	18	8376458	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.73348095934477E-4	0.01
18	8376456	T	C	18	8376458	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.14499779303873E-5	0.014
18	8376456	T	G	18	8376458	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.46889979105925E-4	0.02
18	8376457	C	A	18	8376459	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99987163933485	0.978
18	8376457	C	G	18	8376459	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999931462493303	0.982
18	8376457	C	T	18	8376459	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.966853983585397	0.38
18	8376458	A	C	18	8376460	y	y	splicing	PTPRM(NM_002845:exon24:c.3288-2A>C;NM_001105244:exon26:c.3327-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3288-2A>C;ENST00000580170:exon26:c.3327-2A>C;ENST00000400060:exon26:c.3330-2A>C;ENST00000400053:exon24:c.3102-2A>C;ENST00000444013:exon20:c.2649-2A>C;ENST00000583153:exon4:c.281-2A>C)	.	.	0.999988247793601	0.932
18	8376458	A	G	18	8376460	y	y	splicing	PTPRM(NM_002845:exon24:c.3288-2A>G;NM_001105244:exon26:c.3327-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3288-2A>G;ENST00000580170:exon26:c.3327-2A>G;ENST00000400060:exon26:c.3330-2A>G;ENST00000400053:exon24:c.3102-2A>G;ENST00000444013:exon20:c.2649-2A>G;ENST00000583153:exon4:c.281-2A>G)	.	.	0.999988247793601	0.932
18	8376458	A	T	18	8376460	y	y	splicing	PTPRM(NM_002845:exon24:c.3288-2A>T;NM_001105244:exon26:c.3327-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3288-2A>T;ENST00000580170:exon26:c.3327-2A>T;ENST00000400060:exon26:c.3330-2A>T;ENST00000400053:exon24:c.3102-2A>T;ENST00000444013:exon20:c.2649-2A>T;ENST00000583153:exon4:c.281-2A>T)	.	.	0.999988247793601	0.932
18	8376459	G	A	18	8376461	y	y	splicing	PTPRM(NM_002845:exon24:c.3288-1G>A;NM_001105244:exon26:c.3327-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3288-1G>A;ENST00000580170:exon26:c.3327-1G>A;ENST00000400060:exon26:c.3330-1G>A;ENST00000400053:exon24:c.3102-1G>A;ENST00000444013:exon20:c.2649-1G>A;ENST00000583153:exon4:c.281-1G>A)	.	.	0.999989072007339	0.934
18	8376459	G	C	18	8376461	y	y	splicing	PTPRM(NM_002845:exon24:c.3288-1G>C;NM_001105244:exon26:c.3327-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3288-1G>C;ENST00000580170:exon26:c.3327-1G>C;ENST00000400060:exon26:c.3330-1G>C;ENST00000400053:exon24:c.3102-1G>C;ENST00000444013:exon20:c.2649-1G>C;ENST00000583153:exon4:c.281-1G>C)	.	.	0.999989072007339	0.934
18	8376459	G	T	18	8376461	y	y	splicing	PTPRM(NM_002845:exon24:c.3288-1G>T;NM_001105244:exon26:c.3327-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3288-1G>T;ENST00000580170:exon26:c.3327-1G>T;ENST00000400060:exon26:c.3330-1G>T;ENST00000400053:exon24:c.3102-1G>T;ENST00000444013:exon20:c.2649-1G>T;ENST00000583153:exon4:c.281-1G>T)	.	.	0.999989072007339	0.934
18	8376460	T	A	18	8376462	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.T3288A:p.S1096R;PTPRM:NM_001105244:exon26:c.T3327A:p.S1109R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.T3288A:p.S1096R;ENSG00000173482:ENST00000580170:exon26:c.T3327A:p.S1109R;ENSG00000173482:ENST00000400060:exon26:c.T3330A:p.S1110R;ENSG00000173482:ENST00000444013:exon20:c.T2649A:p.S883R;ENSG00000173482:ENST00000400053:exon24:c.T3102A:p.S1034R;	4.32674319934435E-4	0.31
18	8376460	T	C	18	8376462	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon24:c.T3288C:p.S1096S;PTPRM:NM_001105244:exon26:c.T3327C:p.S1109S;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.T3288C:p.S1096S;ENSG00000173482:ENST00000580170:exon26:c.T3327C:p.S1109S;ENSG00000173482:ENST00000400060:exon26:c.T3330C:p.S1110S;ENSG00000173482:ENST00000444013:exon20:c.T2649C:p.S883S;ENSG00000173482:ENST00000400053:exon24:c.T3102C:p.S1034S;	6.20317501789435E-5	0.012
18	8376460	T	G	18	8376462	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.T3288G:p.S1096R;PTPRM:NM_001105244:exon26:c.T3327G:p.S1109R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.T3288G:p.S1096R;ENSG00000173482:ENST00000580170:exon26:c.T3327G:p.S1109R;ENSG00000173482:ENST00000400060:exon26:c.T3330G:p.S1110R;ENSG00000173482:ENST00000444013:exon20:c.T2649G:p.S883R;ENSG00000173482:ENST00000400053:exon24:c.T3102G:p.S1034R;	0.00230162082515672	0.362
18	8376461	G	A	18	8376463	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.G3289A:p.A1097T;PTPRM:NM_001105244:exon26:c.G3328A:p.A1110T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.G3289A:p.A1097T;ENSG00000173482:ENST00000580170:exon26:c.G3328A:p.A1110T;ENSG00000173482:ENST00000400060:exon26:c.G3331A:p.A1111T;ENSG00000173482:ENST00000444013:exon20:c.G2650A:p.A884T;ENSG00000173482:ENST00000400053:exon24:c.G3103A:p.A1035T;	0.991374512453502	0.858
18	8376461	G	C	18	8376463	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.G3289C:p.A1097P;PTPRM:NM_001105244:exon26:c.G3328C:p.A1110P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.G3289C:p.A1097P;ENSG00000173482:ENST00000580170:exon26:c.G3328C:p.A1110P;ENSG00000173482:ENST00000400060:exon26:c.G3331C:p.A1111P;ENSG00000173482:ENST00000444013:exon20:c.G2650C:p.A884P;ENSG00000173482:ENST00000400053:exon24:c.G3103C:p.A1035P;	0.983204258520269	0.898
18	8376461	G	T	18	8376463	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.G3289T:p.A1097S;PTPRM:NM_001105244:exon26:c.G3328T:p.A1110S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.G3289T:p.A1097S;ENSG00000173482:ENST00000580170:exon26:c.G3328T:p.A1110S;ENSG00000173482:ENST00000400060:exon26:c.G3331T:p.A1111S;ENSG00000173482:ENST00000444013:exon20:c.G2650T:p.A884S;ENSG00000173482:ENST00000400053:exon24:c.G3103T:p.A1035S;	0.98466214167764	0.916
18	8376593	G	A	18	8376595	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.G3421A:p.E1141K;PTPRM:NM_001105244:exon26:c.G3460A:p.E1154K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.G3421A:p.E1141K;ENSG00000173482:ENST00000580170:exon26:c.G3460A:p.E1154K;ENSG00000173482:ENST00000400060:exon26:c.G3463A:p.E1155K;ENSG00000173482:ENST00000444013:exon20:c.G2782A:p.E928K;ENSG00000173482:ENST00000400053:exon24:c.G3235A:p.E1079K;	0.963934380011275	0.824
18	8376593	G	C	18	8376595	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.G3421C:p.E1141Q;PTPRM:NM_001105244:exon26:c.G3460C:p.E1154Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.G3421C:p.E1141Q;ENSG00000173482:ENST00000580170:exon26:c.G3460C:p.E1154Q;ENSG00000173482:ENST00000400060:exon26:c.G3463C:p.E1155Q;ENSG00000173482:ENST00000444013:exon20:c.G2782C:p.E928Q;ENSG00000173482:ENST00000400053:exon24:c.G3235C:p.E1079Q;	0.949814532875941	0.774
18	8376593	G	T	18	8376595	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon24:c.G3421T:p.E1141X;PTPRM:NM_001105244:exon26:c.G3460T:p.E1154X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon24:c.G3421T:p.E1141X;ENSG00000173482:ENST00000580170:exon26:c.G3460T:p.E1154X;ENSG00000173482:ENST00000400060:exon26:c.G3463T:p.E1155X;ENSG00000173482:ENST00000444013:exon20:c.G2782T:p.E928X;ENSG00000173482:ENST00000400053:exon24:c.G3235T:p.E1079X;	0.996379343254658	0.778
18	8376594	A	C	18	8376596	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.A3422C:p.E1141A;PTPRM:NM_001105244:exon26:c.A3461C:p.E1154A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.A3422C:p.E1141A;ENSG00000173482:ENST00000580170:exon26:c.A3461C:p.E1154A;ENSG00000173482:ENST00000400060:exon26:c.A3464C:p.E1155A;ENSG00000173482:ENST00000444013:exon20:c.A2783C:p.E928A;ENSG00000173482:ENST00000400053:exon24:c.A3236C:p.E1079A;	0.999945664775973	0.994
18	8376594	A	G	18	8376596	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.A3422G:p.E1141G;PTPRM:NM_001105244:exon26:c.A3461G:p.E1154G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.A3422G:p.E1141G;ENSG00000173482:ENST00000580170:exon26:c.A3461G:p.E1154G;ENSG00000173482:ENST00000400060:exon26:c.A3464G:p.E1155G;ENSG00000173482:ENST00000444013:exon20:c.A2783G:p.E928G;ENSG00000173482:ENST00000400053:exon24:c.A3236G:p.E1079G;	0.999978998657381	0.992
18	8376594	A	T	18	8376596	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.A3422T:p.E1141V;PTPRM:NM_001105244:exon26:c.A3461T:p.E1154V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.A3422T:p.E1141V;ENSG00000173482:ENST00000580170:exon26:c.A3461T:p.E1154V;ENSG00000173482:ENST00000400060:exon26:c.A3464T:p.E1155V;ENSG00000173482:ENST00000444013:exon20:c.A2783T:p.E928V;ENSG00000173482:ENST00000400053:exon24:c.A3236T:p.E1079V;	0.999975364575481	0.994
18	8376595	G	A	18	8376597	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon24:c.G3423A:p.E1141E;PTPRM:NM_001105244:exon26:c.G3462A:p.E1154E;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.G3423A:p.E1141E;ENSG00000173482:ENST00000580170:exon26:c.G3462A:p.E1154E;ENSG00000173482:ENST00000400060:exon26:c.G3465A:p.E1155E;ENSG00000173482:ENST00000444013:exon20:c.G2784A:p.E928E;ENSG00000173482:ENST00000400053:exon24:c.G3237A:p.E1079E;	0.999994170871571	0.984
18	8376595	G	C	18	8376597	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.G3423C:p.E1141D;PTPRM:NM_001105244:exon26:c.G3462C:p.E1154D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.G3423C:p.E1141D;ENSG00000173482:ENST00000580170:exon26:c.G3462C:p.E1154D;ENSG00000173482:ENST00000400060:exon26:c.G3465C:p.E1155D;ENSG00000173482:ENST00000444013:exon20:c.G2784C:p.E928D;ENSG00000173482:ENST00000400053:exon24:c.G3237C:p.E1079D;	0.99999825825095	1.0
18	8376595	G	T	18	8376597	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon24:c.G3423T:p.E1141D;PTPRM:NM_001105244:exon26:c.G3462T:p.E1154D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon24:c.G3423T:p.E1141D;ENSG00000173482:ENST00000580170:exon26:c.G3462T:p.E1154D;ENSG00000173482:ENST00000400060:exon26:c.G3465T:p.E1155D;ENSG00000173482:ENST00000444013:exon20:c.G2784T:p.E928D;ENSG00000173482:ENST00000400053:exon24:c.G3237T:p.E1079D;	0.999996185227805	0.972
18	8376596	G	A	18	8376598	y	y	splicing	PTPRM(NM_002845:exon24:c.3423+1G>A;NM_001105244:exon26:c.3462+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3423+1G>A;ENST00000580170:exon26:c.3462+1G>A;ENST00000400060:exon26:c.3465+1G>A;ENST00000400053:exon24:c.3237+1G>A;ENST00000444013:exon20:c.2784+1G>A;ENST00000583153:exon4:c.416+1G>A)	.	.	0.999989072007339	0.932
18	8376596	G	C	18	8376598	y	y	splicing	PTPRM(NM_002845:exon24:c.3423+1G>C;NM_001105244:exon26:c.3462+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3423+1G>C;ENST00000580170:exon26:c.3462+1G>C;ENST00000400060:exon26:c.3465+1G>C;ENST00000400053:exon24:c.3237+1G>C;ENST00000444013:exon20:c.2784+1G>C;ENST00000583153:exon4:c.416+1G>C)	.	.	0.999989072007339	0.932
18	8376596	G	T	18	8376598	y	y	splicing	PTPRM(NM_002845:exon24:c.3423+1G>T;NM_001105244:exon26:c.3462+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3423+1G>T;ENST00000580170:exon26:c.3462+1G>T;ENST00000400060:exon26:c.3465+1G>T;ENST00000400053:exon24:c.3237+1G>T;ENST00000444013:exon20:c.2784+1G>T;ENST00000583153:exon4:c.416+1G>T)	.	.	0.999989072007339	0.932
18	8376597	T	A	18	8376599	y	y	splicing	PTPRM(NM_002845:exon24:c.3423+2T>A;NM_001105244:exon26:c.3462+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3423+2T>A;ENST00000580170:exon26:c.3462+2T>A;ENST00000400060:exon26:c.3465+2T>A;ENST00000400053:exon24:c.3237+2T>A;ENST00000444013:exon20:c.2784+2T>A;ENST00000583153:exon4:c.416+2T>A)	.	.	0.999858944389918	0.908
18	8376597	T	C	18	8376599	y	y	splicing	PTPRM(NM_002845:exon24:c.3423+2T>C;NM_001105244:exon26:c.3462+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3423+2T>C;ENST00000580170:exon26:c.3462+2T>C;ENST00000400060:exon26:c.3465+2T>C;ENST00000400053:exon24:c.3237+2T>C;ENST00000444013:exon20:c.2784+2T>C;ENST00000583153:exon4:c.416+2T>C)	.	.	0.877373831105922	0.55
18	8376597	T	G	18	8376599	y	y	splicing	PTPRM(NM_002845:exon24:c.3423+2T>G;NM_001105244:exon26:c.3462+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon24:c.3423+2T>G;ENST00000580170:exon26:c.3462+2T>G;ENST00000400060:exon26:c.3465+2T>G;ENST00000400053:exon24:c.3237+2T>G;ENST00000444013:exon20:c.2784+2T>G;ENST00000583153:exon4:c.416+2T>G)	.	.	0.999858944389918	0.912
18	8376598	A	C	18	8376600	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999952270314748	0.904
18	8376598	A	G	18	8376600	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999519721352481	0.878
18	8376598	A	T	18	8376600	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999965125358937	0.964
18	8376599	C	A	18	8376601	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.06216893870517E-5	0.082
18	8376599	C	G	18	8376601	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00113743124167652	0.054
18	8376599	C	T	18	8376601	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.1721549623549E-4	0.052
18	8376600	T	A	18	8376602	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.46498614211228E-5	0.01
18	8376600	T	C	18	8376602	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.0259146534893E-5	0.012
18	8376600	T	G	18	8376602	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.34265171142927E-4	0.08
18	8376601	C	A	18	8376603	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.65029780384019E-5	0.0
18	8376601	C	G	18	8376603	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.90627905643015E-5	0.002
18	8376601	C	T	18	8376603	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.68904076410993E-5	0.002
18	8376602	C	A	18	8376604	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.42413818959302E-5	0.0
18	8376602	C	G	18	8376604	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.65212058763735E-5	0.0
18	8376602	C	T	18	8376604	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.08031664842045E-4	0.0
18	8376603	C	A	18	8376605	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.38672283886459E-5	0.0
18	8376603	C	G	18	8376605	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.06341561599038E-6	0.0
18	8376603	C	T	18	8376605	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.82152694110954E-6	0.0
18	8378251	C	A	18	8378253	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00260034100094465	0.074
18	8378251	C	G	18	8378253	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.95072561654999E-4	0.052
18	8378251	C	T	18	8378253	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.46971617652433E-4	0.004
18	8378252	T	A	18	8378254	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.30597055215589	0.476
18	8378252	T	C	18	8378254	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0467750981534202	0.168
18	8378252	T	G	18	8378254	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.144615318238643	0.434
18	8378253	C	A	18	8378255	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00115881104333814	0.054
18	8378253	C	G	18	8378255	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.98579763044606E-4	0.048
18	8378253	C	T	18	8378255	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.34372109113267E-5	0.02
18	8378254	C	A	18	8378256	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0412365577819672	0.196
18	8378254	C	G	18	8378256	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0188483455024363	0.12
18	8378254	C	T	18	8378256	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00208253325136817	0.006
18	8378255	T	A	18	8378257	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0109452028022817	0.122
18	8378255	T	C	18	8378257	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.49436230794014E-5	0.002
18	8378255	T	G	18	8378257	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00283417606379762	0.234
18	8378256	T	A	18	8378258	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0263557371175962	0.21
18	8378256	T	C	18	8378258	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.11125605775585E-4	0.004
18	8378256	T	G	18	8378258	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0317138695809272	0.198
18	8378257	C	A	18	8378259	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00368124805965035	0.134
18	8378257	C	G	18	8378259	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00291071466193652	0.14
18	8378257	C	T	18	8378259	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.21148744842776E-5	0.004
18	8378258	T	A	18	8378260	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00332505841477683	0.13
18	8378258	T	C	18	8378260	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.49331764902382E-4	0.012
18	8378258	T	G	18	8378260	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00325991368210076	0.174
18	8378259	C	A	18	8378261	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.42605474744109E-5	0.0
18	8378259	C	G	18	8378261	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.96087297067401E-5	0.0
18	8378259	C	T	18	8378261	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.42605474744109E-5	0.002
18	8378260	C	A	18	8378262	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.909932880398114	0.684
18	8378260	C	G	18	8378262	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.987961932435957	0.868
18	8378260	C	T	18	8378262	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.011407086462646	0.056
18	8378261	A	C	18	8378263	y	y	splicing	PTPRM(NM_002845:exon25:c.3424-2A>C;NM_001105244:exon27:c.3463-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3424-2A>C;ENST00000580170:exon27:c.3463-2A>C;ENST00000400060:exon27:c.3466-2A>C;ENST00000400053:exon25:c.3238-2A>C;ENST00000444013:exon21:c.2785-2A>C;ENST00000583153:exon5:c.417-2A>C)	.	.	0.999989917668626	0.926
18	8378261	A	G	18	8378263	y	y	splicing	PTPRM(NM_002845:exon25:c.3424-2A>G;NM_001105244:exon27:c.3463-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3424-2A>G;ENST00000580170:exon27:c.3463-2A>G;ENST00000400060:exon27:c.3466-2A>G;ENST00000400053:exon25:c.3238-2A>G;ENST00000444013:exon21:c.2785-2A>G;ENST00000583153:exon5:c.417-2A>G)	.	.	0.999989917668626	0.926
18	8378261	A	T	18	8378263	y	y	splicing	PTPRM(NM_002845:exon25:c.3424-2A>T;NM_001105244:exon27:c.3463-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3424-2A>T;ENST00000580170:exon27:c.3463-2A>T;ENST00000400060:exon27:c.3466-2A>T;ENST00000400053:exon25:c.3238-2A>T;ENST00000444013:exon21:c.2785-2A>T;ENST00000583153:exon5:c.417-2A>T)	.	.	0.999989917668626	0.926
18	8378262	G	A	18	8378264	y	y	splicing	PTPRM(NM_002845:exon25:c.3424-1G>A;NM_001105244:exon27:c.3463-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3424-1G>A;ENST00000580170:exon27:c.3463-1G>A;ENST00000400060:exon27:c.3466-1G>A;ENST00000400053:exon25:c.3238-1G>A;ENST00000444013:exon21:c.2785-1G>A;ENST00000583153:exon5:c.417-1G>A)	.	.	0.999986675681007	0.934
18	8378262	G	C	18	8378264	y	y	splicing	PTPRM(NM_002845:exon25:c.3424-1G>C;NM_001105244:exon27:c.3463-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3424-1G>C;ENST00000580170:exon27:c.3463-1G>C;ENST00000400060:exon27:c.3466-1G>C;ENST00000400053:exon25:c.3238-1G>C;ENST00000444013:exon21:c.2785-1G>C;ENST00000583153:exon5:c.417-1G>C)	.	.	0.999986675681007	0.932
18	8378262	G	T	18	8378264	y	y	splicing	PTPRM(NM_002845:exon25:c.3424-1G>T;NM_001105244:exon27:c.3463-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3424-1G>T;ENST00000580170:exon27:c.3463-1G>T;ENST00000400060:exon27:c.3466-1G>T;ENST00000400053:exon25:c.3238-1G>T;ENST00000444013:exon21:c.2785-1G>T;ENST00000583153:exon5:c.417-1G>T)	.	.	0.999986675681007	0.932
18	8378263	G	A	18	8378265	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.G3424A:p.E1142K;PTPRM:NM_001105244:exon27:c.G3463A:p.E1155K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.G3424A:p.E1142K;ENSG00000173482:ENST00000580170:exon27:c.G3463A:p.E1155K;ENSG00000173482:ENST00000400060:exon27:c.G3466A:p.E1156K;ENSG00000173482:ENST00000444013:exon21:c.G2785A:p.E929K;ENSG00000173482:ENST00000400053:exon25:c.G3238A:p.E1080K;	0.999168823605345	0.97
18	8378263	G	C	18	8378265	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.G3424C:p.E1142Q;PTPRM:NM_001105244:exon27:c.G3463C:p.E1155Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.G3424C:p.E1142Q;ENSG00000173482:ENST00000580170:exon27:c.G3463C:p.E1155Q;ENSG00000173482:ENST00000400060:exon27:c.G3466C:p.E1156Q;ENSG00000173482:ENST00000444013:exon21:c.G2785C:p.E929Q;ENSG00000173482:ENST00000400053:exon25:c.G3238C:p.E1080Q;	0.999831981474198	0.988
18	8378263	G	T	18	8378265	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon25:c.G3424T:p.E1142X;PTPRM:NM_001105244:exon27:c.G3463T:p.E1155X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon25:c.G3424T:p.E1142X;ENSG00000173482:ENST00000580170:exon27:c.G3463T:p.E1155X;ENSG00000173482:ENST00000400060:exon27:c.G3466T:p.E1156X;ENSG00000173482:ENST00000444013:exon21:c.G2785T:p.E929X;ENSG00000173482:ENST00000400053:exon25:c.G3238T:p.E1080X;	0.999924147180701	0.996
18	8378264	A	C	18	8378266	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.A3425C:p.E1142A;PTPRM:NM_001105244:exon27:c.A3464C:p.E1155A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.A3425C:p.E1142A;ENSG00000173482:ENST00000580170:exon27:c.A3464C:p.E1155A;ENSG00000173482:ENST00000400060:exon27:c.A3467C:p.E1156A;ENSG00000173482:ENST00000444013:exon21:c.A2786C:p.E929A;ENSG00000173482:ENST00000400053:exon25:c.A3239C:p.E1080A;	0.803648825015532	0.768
18	8378264	A	G	18	8378266	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.A3425G:p.E1142G;PTPRM:NM_001105244:exon27:c.A3464G:p.E1155G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.A3425G:p.E1142G;ENSG00000173482:ENST00000580170:exon27:c.A3464G:p.E1155G;ENSG00000173482:ENST00000400060:exon27:c.A3467G:p.E1156G;ENSG00000173482:ENST00000444013:exon21:c.A2786G:p.E929G;ENSG00000173482:ENST00000400053:exon25:c.A3239G:p.E1080G;	0.793663126010178	0.768
18	8378264	A	T	18	8378266	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.A3425T:p.E1142V;PTPRM:NM_001105244:exon27:c.A3464T:p.E1155V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.A3425T:p.E1142V;ENSG00000173482:ENST00000580170:exon27:c.A3464T:p.E1155V;ENSG00000173482:ENST00000400060:exon27:c.A3467T:p.E1156V;ENSG00000173482:ENST00000444013:exon21:c.A2786T:p.E929V;ENSG00000173482:ENST00000400053:exon25:c.A3239T:p.E1080V;	0.760993311430692	0.76
18	8378410	C	A	18	8378412	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon25:c.C3571A:p.R1191R;PTPRM:NM_001105244:exon27:c.C3610A:p.R1204R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.C3571A:p.R1191R;ENSG00000173482:ENST00000580170:exon27:c.C3610A:p.R1204R;ENSG00000173482:ENST00000400060:exon27:c.C3613A:p.R1205R;ENSG00000173482:ENST00000444013:exon21:c.C2932A:p.R978R;ENSG00000173482:ENST00000400053:exon25:c.C3385A:p.R1129R;	0.00443867879559516	0.216
18	8378410	C	G	18	8378412	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.C3571G:p.R1191G;PTPRM:NM_001105244:exon27:c.C3610G:p.R1204G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.C3571G:p.R1191G;ENSG00000173482:ENST00000580170:exon27:c.C3610G:p.R1204G;ENSG00000173482:ENST00000400060:exon27:c.C3613G:p.R1205G;ENSG00000173482:ENST00000444013:exon21:c.C2932G:p.R978G;ENSG00000173482:ENST00000400053:exon25:c.C3385G:p.R1129G;	0.0710290041993428	0.336
18	8378410	C	T	18	8378412	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.C3571T:p.R1191W;PTPRM:NM_001105244:exon27:c.C3610T:p.R1204W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.C3571T:p.R1191W;ENSG00000173482:ENST00000580170:exon27:c.C3610T:p.R1204W;ENSG00000173482:ENST00000400060:exon27:c.C3613T:p.R1205W;ENSG00000173482:ENST00000444013:exon21:c.C2932T:p.R978W;ENSG00000173482:ENST00000400053:exon25:c.C3385T:p.R1129W;	0.817614775051741	0.358
18	8378411	G	A	18	8378413	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.G3572A:p.R1191Q;PTPRM:NM_001105244:exon27:c.G3611A:p.R1204Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.G3572A:p.R1191Q;ENSG00000173482:ENST00000580170:exon27:c.G3611A:p.R1204Q;ENSG00000173482:ENST00000400060:exon27:c.G3614A:p.R1205Q;ENSG00000173482:ENST00000444013:exon21:c.G2933A:p.R978Q;ENSG00000173482:ENST00000400053:exon25:c.G3386A:p.R1129Q;	0.00725268374500945	0.12
18	8378411	G	C	18	8378413	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.G3572C:p.R1191P;PTPRM:NM_001105244:exon27:c.G3611C:p.R1204P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.G3572C:p.R1191P;ENSG00000173482:ENST00000580170:exon27:c.G3611C:p.R1204P;ENSG00000173482:ENST00000400060:exon27:c.G3614C:p.R1205P;ENSG00000173482:ENST00000444013:exon21:c.G2933C:p.R978P;ENSG00000173482:ENST00000400053:exon25:c.G3386C:p.R1129P;	0.405010191342293	0.488
18	8378411	G	T	18	8378413	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon25:c.G3572T:p.R1191L;PTPRM:NM_001105244:exon27:c.G3611T:p.R1204L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.G3572T:p.R1191L;ENSG00000173482:ENST00000580170:exon27:c.G3611T:p.R1204L;ENSG00000173482:ENST00000400060:exon27:c.G3614T:p.R1205L;ENSG00000173482:ENST00000444013:exon21:c.G2933T:p.R978L;ENSG00000173482:ENST00000400053:exon25:c.G3386T:p.R1129L;	0.552563374652541	0.53
18	8378412	G	A	18	8378414	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon25:c.G3573A:p.R1191R;PTPRM:NM_001105244:exon27:c.G3612A:p.R1204R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.G3573A:p.R1191R;ENSG00000173482:ENST00000580170:exon27:c.G3612A:p.R1204R;ENSG00000173482:ENST00000400060:exon27:c.G3615A:p.R1205R;ENSG00000173482:ENST00000444013:exon21:c.G2934A:p.R978R;ENSG00000173482:ENST00000400053:exon25:c.G3387A:p.R1129R;	0.99635946302138	0.876
18	8378412	G	C	18	8378414	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon25:c.G3573C:p.R1191R;PTPRM:NM_001105244:exon27:c.G3612C:p.R1204R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.G3573C:p.R1191R;ENSG00000173482:ENST00000580170:exon27:c.G3612C:p.R1204R;ENSG00000173482:ENST00000400060:exon27:c.G3615C:p.R1205R;ENSG00000173482:ENST00000444013:exon21:c.G2934C:p.R978R;ENSG00000173482:ENST00000400053:exon25:c.G3387C:p.R1129R;	0.999714740357825	0.954
18	8378412	G	T	18	8378414	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon25:c.G3573T:p.R1191R;PTPRM:NM_001105244:exon27:c.G3612T:p.R1204R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon25:c.G3573T:p.R1191R;ENSG00000173482:ENST00000580170:exon27:c.G3612T:p.R1204R;ENSG00000173482:ENST00000400060:exon27:c.G3615T:p.R1205R;ENSG00000173482:ENST00000444013:exon21:c.G2934T:p.R978R;ENSG00000173482:ENST00000400053:exon25:c.G3387T:p.R1129R;	0.999038938564435	0.96
18	8378413	G	A	18	8378415	y	y	splicing	PTPRM(NM_002845:exon25:c.3573+1G>A;NM_001105244:exon27:c.3612+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3573+1G>A;ENST00000580170:exon27:c.3612+1G>A;ENST00000400060:exon27:c.3615+1G>A;ENST00000400053:exon25:c.3387+1G>A;ENST00000444013:exon21:c.2934+1G>A;ENST00000583153:exon5:c.566+1G>A)	.	.	0.999986675681007	0.934
18	8378413	G	C	18	8378415	y	y	splicing	PTPRM(NM_002845:exon25:c.3573+1G>C;NM_001105244:exon27:c.3612+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3573+1G>C;ENST00000580170:exon27:c.3612+1G>C;ENST00000400060:exon27:c.3615+1G>C;ENST00000400053:exon25:c.3387+1G>C;ENST00000444013:exon21:c.2934+1G>C;ENST00000583153:exon5:c.566+1G>C)	.	.	0.999986675681007	0.934
18	8378413	G	T	18	8378415	y	y	splicing	PTPRM(NM_002845:exon25:c.3573+1G>T;NM_001105244:exon27:c.3612+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3573+1G>T;ENST00000580170:exon27:c.3612+1G>T;ENST00000400060:exon27:c.3615+1G>T;ENST00000400053:exon25:c.3387+1G>T;ENST00000444013:exon21:c.2934+1G>T;ENST00000583153:exon5:c.566+1G>T)	.	.	0.999986675681007	0.934
18	8378414	T	A	18	8378416	y	y	splicing	PTPRM(NM_002845:exon25:c.3573+2T>A;NM_001105244:exon27:c.3612+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3573+2T>A;ENST00000580170:exon27:c.3612+2T>A;ENST00000400060:exon27:c.3615+2T>A;ENST00000400053:exon25:c.3387+2T>A;ENST00000444013:exon21:c.2934+2T>A;ENST00000583153:exon5:c.566+2T>A)	.	.	0.999988247793601	0.93
18	8378414	T	C	18	8378416	y	y	splicing	PTPRM(NM_002845:exon25:c.3573+2T>C;NM_001105244:exon27:c.3612+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3573+2T>C;ENST00000580170:exon27:c.3612+2T>C;ENST00000400060:exon27:c.3615+2T>C;ENST00000400053:exon25:c.3387+2T>C;ENST00000444013:exon21:c.2934+2T>C;ENST00000583153:exon5:c.566+2T>C)	.	.	0.994669226766359	0.664
18	8378414	T	G	18	8378416	y	y	splicing	PTPRM(NM_002845:exon25:c.3573+2T>G;NM_001105244:exon27:c.3612+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon25:c.3573+2T>G;ENST00000580170:exon27:c.3612+2T>G;ENST00000400060:exon27:c.3615+2T>G;ENST00000400053:exon25:c.3387+2T>G;ENST00000444013:exon21:c.2934+2T>G;ENST00000583153:exon5:c.566+2T>G)	.	.	0.999988247793601	0.93
18	8378415	A	C	18	8378417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.98989143191772	0.84
18	8378415	A	G	18	8378417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00356690664785765	0.136
18	8378415	A	T	18	8378417	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.973313225137904	0.738
18	8378416	A	C	18	8378418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0727960686609613	0.232
18	8378416	A	G	18	8378418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.372477361259586	0.348
18	8378416	A	T	18	8378418	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.178668219110897	0.316
18	8378417	G	A	18	8378419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998175952214928	0.904
18	8378417	G	C	18	8378419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999209403508019	0.882
18	8378417	G	T	18	8378419	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998017318252571	0.902
18	8378418	T	A	18	8378420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.60900499636607E-4	0.192
18	8378418	T	C	18	8378420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00116628668275213	0.252
18	8378418	T	G	18	8378420	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.18912473726877E-4	0.126
18	8378419	G	A	18	8378421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.13879224812485E-5	0.0
18	8378419	G	C	18	8378421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.14131246368229E-5	0.0
18	8378419	G	T	18	8378421	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.34303792003554E-5	0.0
18	8378420	A	C	18	8378422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.30477579161392E-5	0.0
18	8378420	A	G	18	8378422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.67105686806938E-5	0.0
18	8378420	A	T	18	8378422	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.30477579161392E-5	0.01
18	8379153	T	A	18	8379155	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00599495845211774	0.14
18	8379153	T	C	18	8379155	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00225620774641965	0.01
18	8379153	T	G	18	8379155	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00469260409629725	0.136
18	8379154	T	A	18	8379156	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.92401570892428E-4	0.206
18	8379154	T	C	18	8379156	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.30330428064445E-4	0.05
18	8379154	T	G	18	8379156	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00477213229272159	0.216
18	8379155	T	A	18	8379157	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00106192989489002	0.038
18	8379155	T	C	18	8379157	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.33217376720045E-4	0.016
18	8379155	T	G	18	8379157	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.33835090413177E-4	0.038
18	8379156	C	A	18	8379158	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.05408673440833E-4	0.036
18	8379156	C	G	18	8379158	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.26311371560595E-4	0.06
18	8379156	C	T	18	8379158	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.2463149886956E-5	0.006
18	8379157	T	A	18	8379159	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.9141227499916E-4	0.05
18	8379157	T	C	18	8379159	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.52311897729398E-5	0.0
18	8379157	T	G	18	8379159	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00119976328769284	0.084
18	8379158	C	A	18	8379160	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.05681726013722E-4	0.04
18	8379158	C	G	18	8379160	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00118025532357489	0.03
18	8379158	C	T	18	8379160	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.71494339729055E-4	0.012
18	8379159	A	C	18	8379161	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.11888150304521E-5	0.014
18	8379159	A	G	18	8379161	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.6815803950322E-6	0.0
18	8379159	A	T	18	8379161	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.67063169148275E-5	0.0
18	8379160	C	A	18	8379162	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.813915525718674	0.604
18	8379160	C	G	18	8379162	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.902724590296603	0.764
18	8379160	C	T	18	8379162	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.00972122570847E-5	0.0
18	8379161	G	A	18	8379163	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.55263051237687E-5	0.0
18	8379161	G	C	18	8379163	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.03993947556789E-5	0.014
18	8379161	G	T	18	8379163	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.99130967136333E-5	0.168
18	8379162	C	A	18	8379164	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.510676860117197	0.28
18	8379162	C	G	18	8379164	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.993134255514454	0.788
18	8379162	C	T	18	8379164	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.40461043667587E-4	0.022
18	8379163	A	C	18	8379165	y	y	splicing	PTPRM(NM_002845:exon26:c.3574-2A>C;NM_001105244:exon28:c.3613-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3574-2A>C;ENST00000580170:exon28:c.3613-2A>C;ENST00000400060:exon28:c.3616-2A>C;ENST00000400053:exon26:c.3388-2A>C;ENST00000444013:exon22:c.2935-2A>C;ENST00000583153:exon6:c.567-2A>C)	.	.	0.999988247793601	0.926
18	8379163	A	G	18	8379165	y	y	splicing	PTPRM(NM_002845:exon26:c.3574-2A>G;NM_001105244:exon28:c.3613-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3574-2A>G;ENST00000580170:exon28:c.3613-2A>G;ENST00000400060:exon28:c.3616-2A>G;ENST00000400053:exon26:c.3388-2A>G;ENST00000444013:exon22:c.2935-2A>G;ENST00000583153:exon6:c.567-2A>G)	.	.	0.999988247793601	0.926
18	8379163	A	T	18	8379165	y	y	splicing	PTPRM(NM_002845:exon26:c.3574-2A>T;NM_001105244:exon28:c.3613-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3574-2A>T;ENST00000580170:exon28:c.3613-2A>T;ENST00000400060:exon28:c.3616-2A>T;ENST00000400053:exon26:c.3388-2A>T;ENST00000444013:exon22:c.2935-2A>T;ENST00000583153:exon6:c.567-2A>T)	.	.	0.999988247793601	0.926
18	8379164	G	A	18	8379166	y	y	splicing	PTPRM(NM_002845:exon26:c.3574-1G>A;NM_001105244:exon28:c.3613-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3574-1G>A;ENST00000580170:exon28:c.3613-1G>A;ENST00000400060:exon28:c.3616-1G>A;ENST00000400053:exon26:c.3388-1G>A;ENST00000444013:exon22:c.2935-1G>A;ENST00000583153:exon6:c.567-1G>A)	.	.	0.999990361384395	0.936
18	8379164	G	C	18	8379166	y	y	splicing	PTPRM(NM_002845:exon26:c.3574-1G>C;NM_001105244:exon28:c.3613-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3574-1G>C;ENST00000580170:exon28:c.3613-1G>C;ENST00000400060:exon28:c.3616-1G>C;ENST00000400053:exon26:c.3388-1G>C;ENST00000444013:exon22:c.2935-1G>C;ENST00000583153:exon6:c.567-1G>C)	.	.	0.999990361384395	0.936
18	8379164	G	T	18	8379166	y	y	splicing	PTPRM(NM_002845:exon26:c.3574-1G>T;NM_001105244:exon28:c.3613-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3574-1G>T;ENST00000580170:exon28:c.3613-1G>T;ENST00000400060:exon28:c.3616-1G>T;ENST00000400053:exon26:c.3388-1G>T;ENST00000444013:exon22:c.2935-1G>T;ENST00000583153:exon6:c.567-1G>T)	.	.	0.999990361384395	0.936
18	8379165	A	C	18	8379167	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.A3574C:p.T1192P;PTPRM:NM_001105244:exon28:c.A3613C:p.T1205P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.A3574C:p.T1192P;ENSG00000173482:ENST00000580170:exon28:c.A3613C:p.T1205P;ENSG00000173482:ENST00000400060:exon28:c.A3616C:p.T1206P;ENSG00000173482:ENST00000444013:exon22:c.A2935C:p.T979P;ENSG00000173482:ENST00000400053:exon26:c.A3388C:p.T1130P;	0.910713701914282	0.612
18	8379165	A	G	18	8379167	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.A3574G:p.T1192A;PTPRM:NM_001105244:exon28:c.A3613G:p.T1205A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.A3574G:p.T1192A;ENSG00000173482:ENST00000580170:exon28:c.A3613G:p.T1205A;ENSG00000173482:ENST00000400060:exon28:c.A3616G:p.T1206A;ENSG00000173482:ENST00000444013:exon22:c.A2935G:p.T979A;ENSG00000173482:ENST00000400053:exon26:c.A3388G:p.T1130A;	0.743308528622722	0.648
18	8379165	A	T	18	8379167	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.A3574T:p.T1192S;PTPRM:NM_001105244:exon28:c.A3613T:p.T1205S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.A3574T:p.T1192S;ENSG00000173482:ENST00000580170:exon28:c.A3613T:p.T1205S;ENSG00000173482:ENST00000400060:exon28:c.A3616T:p.T1206S;ENSG00000173482:ENST00000444013:exon22:c.A2935T:p.T979S;ENSG00000173482:ENST00000400053:exon26:c.A3388T:p.T1130S;	0.865229351278841	0.594
18	8379166	C	A	18	8379168	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.C3575A:p.T1192K;PTPRM:NM_001105244:exon28:c.C3614A:p.T1205K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.C3575A:p.T1192K;ENSG00000173482:ENST00000580170:exon28:c.C3614A:p.T1205K;ENSG00000173482:ENST00000400060:exon28:c.C3617A:p.T1206K;ENSG00000173482:ENST00000444013:exon22:c.C2936A:p.T979K;ENSG00000173482:ENST00000400053:exon26:c.C3389A:p.T1130K;	0.996873015531189	0.886
18	8379166	C	G	18	8379168	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.C3575G:p.T1192R;PTPRM:NM_001105244:exon28:c.C3614G:p.T1205R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.C3575G:p.T1192R;ENSG00000173482:ENST00000580170:exon28:c.C3614G:p.T1205R;ENSG00000173482:ENST00000400060:exon28:c.C3617G:p.T1206R;ENSG00000173482:ENST00000444013:exon22:c.C2936G:p.T979R;ENSG00000173482:ENST00000400053:exon26:c.C3389G:p.T1130R;	0.990278777200442	0.806
18	8379166	C	T	18	8379168	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.C3575T:p.T1192M;PTPRM:NM_001105244:exon28:c.C3614T:p.T1205M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.C3575T:p.T1192M;ENSG00000173482:ENST00000580170:exon28:c.C3614T:p.T1205M;ENSG00000173482:ENST00000400060:exon28:c.C3617T:p.T1206M;ENSG00000173482:ENST00000444013:exon22:c.C2936T:p.T979M;ENSG00000173482:ENST00000400053:exon26:c.C3389T:p.T1130M;	0.982035446610515	0.826
18	8379336	G	A	18	8379338	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.G3745A:p.D1249N;PTPRM:NM_001105244:exon28:c.G3784A:p.D1262N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.G3745A:p.D1249N;ENSG00000173482:ENST00000580170:exon28:c.G3784A:p.D1262N;ENSG00000173482:ENST00000400060:exon28:c.G3787A:p.D1263N;ENSG00000173482:ENST00000444013:exon22:c.G3106A:p.D1036N;ENSG00000173482:ENST00000400053:exon26:c.G3559A:p.D1187N;	0.9698242871012	0.84
18	8379336	G	C	18	8379338	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.G3745C:p.D1249H;PTPRM:NM_001105244:exon28:c.G3784C:p.D1262H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.G3745C:p.D1249H;ENSG00000173482:ENST00000580170:exon28:c.G3784C:p.D1262H;ENSG00000173482:ENST00000400060:exon28:c.G3787C:p.D1263H;ENSG00000173482:ENST00000444013:exon22:c.G3106C:p.D1036H;ENSG00000173482:ENST00000400053:exon26:c.G3559C:p.D1187H;	0.9698242871012	0.824
18	8379336	G	T	18	8379338	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.G3745T:p.D1249Y;PTPRM:NM_001105244:exon28:c.G3784T:p.D1262Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.G3745T:p.D1249Y;ENSG00000173482:ENST00000580170:exon28:c.G3784T:p.D1262Y;ENSG00000173482:ENST00000400060:exon28:c.G3787T:p.D1263Y;ENSG00000173482:ENST00000444013:exon22:c.G3106T:p.D1036Y;ENSG00000173482:ENST00000400053:exon26:c.G3559T:p.D1187Y;	0.994874907877598	0.8
18	8379337	A	C	18	8379339	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.A3746C:p.D1249A;PTPRM:NM_001105244:exon28:c.A3785C:p.D1262A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.A3746C:p.D1249A;ENSG00000173482:ENST00000580170:exon28:c.A3785C:p.D1262A;ENSG00000173482:ENST00000400060:exon28:c.A3788C:p.D1263A;ENSG00000173482:ENST00000444013:exon22:c.A3107C:p.D1036A;ENSG00000173482:ENST00000400053:exon26:c.A3560C:p.D1187A;	0.995012135919859	0.812
18	8379337	A	G	18	8379339	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.A3746G:p.D1249G;PTPRM:NM_001105244:exon28:c.A3785G:p.D1262G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.A3746G:p.D1249G;ENSG00000173482:ENST00000580170:exon28:c.A3785G:p.D1262G;ENSG00000173482:ENST00000400060:exon28:c.A3788G:p.D1263G;ENSG00000173482:ENST00000444013:exon22:c.A3107G:p.D1036G;ENSG00000173482:ENST00000400053:exon26:c.A3560G:p.D1187G;	0.99946675317455	0.93
18	8379337	A	T	18	8379339	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.A3746T:p.D1249V;PTPRM:NM_001105244:exon28:c.A3785T:p.D1262V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.A3746T:p.D1249V;ENSG00000173482:ENST00000580170:exon28:c.A3785T:p.D1262V;ENSG00000173482:ENST00000400060:exon28:c.A3788T:p.D1263V;ENSG00000173482:ENST00000444013:exon22:c.A3107T:p.D1036V;ENSG00000173482:ENST00000400053:exon26:c.A3560T:p.D1187V;	0.999525981535687	0.962
18	8379338	C	A	18	8379340	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.C3747A:p.D1249E;PTPRM:NM_001105244:exon28:c.C3786A:p.D1262E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.C3747A:p.D1249E;ENSG00000173482:ENST00000580170:exon28:c.C3786A:p.D1262E;ENSG00000173482:ENST00000400060:exon28:c.C3789A:p.D1263E;ENSG00000173482:ENST00000444013:exon22:c.C3108A:p.D1036E;ENSG00000173482:ENST00000400053:exon26:c.C3561A:p.D1187E;	7.73876560571051E-4	0.244
18	8379338	C	G	18	8379340	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon26:c.C3747G:p.D1249E;PTPRM:NM_001105244:exon28:c.C3786G:p.D1262E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.C3747G:p.D1249E;ENSG00000173482:ENST00000580170:exon28:c.C3786G:p.D1262E;ENSG00000173482:ENST00000400060:exon28:c.C3789G:p.D1263E;ENSG00000173482:ENST00000444013:exon22:c.C3108G:p.D1036E;ENSG00000173482:ENST00000400053:exon26:c.C3561G:p.D1187E;	1.43930715299773E-4	0.424
18	8379338	C	T	18	8379340	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon26:c.C3747T:p.D1249D;PTPRM:NM_001105244:exon28:c.C3786T:p.D1262D;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon26:c.C3747T:p.D1249D;ENSG00000173482:ENST00000580170:exon28:c.C3786T:p.D1262D;ENSG00000173482:ENST00000400060:exon28:c.C3789T:p.D1263D;ENSG00000173482:ENST00000444013:exon22:c.C3108T:p.D1036D;ENSG00000173482:ENST00000400053:exon26:c.C3561T:p.D1187D;	0.00428827866328882	0.144
18	8379339	G	A	18	8379341	y	y	splicing	PTPRM(NM_002845:exon26:c.3747+1G>A;NM_001105244:exon28:c.3786+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3747+1G>A;ENST00000580170:exon28:c.3786+1G>A;ENST00000400060:exon28:c.3789+1G>A;ENST00000400053:exon26:c.3561+1G>A;ENST00000444013:exon22:c.3108+1G>A)	.	.	0.999990361384395	0.938
18	8379339	G	C	18	8379341	y	y	splicing	PTPRM(NM_002845:exon26:c.3747+1G>C;NM_001105244:exon28:c.3786+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3747+1G>C;ENST00000580170:exon28:c.3786+1G>C;ENST00000400060:exon28:c.3789+1G>C;ENST00000400053:exon26:c.3561+1G>C;ENST00000444013:exon22:c.3108+1G>C)	.	.	0.999990361384395	0.938
18	8379339	G	T	18	8379341	y	y	splicing	PTPRM(NM_002845:exon26:c.3747+1G>T;NM_001105244:exon28:c.3786+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3747+1G>T;ENST00000580170:exon28:c.3786+1G>T;ENST00000400060:exon28:c.3789+1G>T;ENST00000400053:exon26:c.3561+1G>T;ENST00000444013:exon22:c.3108+1G>T)	.	.	0.999990361384395	0.938
18	8379340	T	A	18	8379342	y	y	splicing	PTPRM(NM_002845:exon26:c.3747+2T>A;NM_001105244:exon28:c.3786+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3747+2T>A;ENST00000580170:exon28:c.3786+2T>A;ENST00000400060:exon28:c.3789+2T>A;ENST00000400053:exon26:c.3561+2T>A;ENST00000444013:exon22:c.3108+2T>A)	.	.	0.999988247793601	0.932
18	8379340	T	C	18	8379342	y	y	splicing	PTPRM(NM_002845:exon26:c.3747+2T>C;NM_001105244:exon28:c.3786+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3747+2T>C;ENST00000580170:exon28:c.3786+2T>C;ENST00000400060:exon28:c.3789+2T>C;ENST00000400053:exon26:c.3561+2T>C;ENST00000444013:exon22:c.3108+2T>C)	.	.	0.999945827492243	0.872
18	8379340	T	G	18	8379342	y	y	splicing	PTPRM(NM_002845:exon26:c.3747+2T>G;NM_001105244:exon28:c.3786+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon26:c.3747+2T>G;ENST00000580170:exon28:c.3786+2T>G;ENST00000400060:exon28:c.3789+2T>G;ENST00000400053:exon26:c.3561+2T>G;ENST00000444013:exon22:c.3108+2T>G)	.	.	0.999988247793601	0.932
18	8379341	G	A	18	8379343	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.32380102776504E-5	0.0
18	8379341	G	C	18	8379343	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.66082957783526	0.606
18	8379341	G	T	18	8379343	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992348107184783	0.582
18	8379342	A	C	18	8379344	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.992149395757391	0.796
18	8379342	A	G	18	8379344	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998869408427343	0.948
18	8379342	A	T	18	8379344	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999286643292393	0.92
18	8379343	G	A	18	8379345	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99997461091917	0.998
18	8379343	G	C	18	8379345	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999988382048219	0.982
18	8379343	G	T	18	8379345	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999976008337081	0.98
18	8379344	T	A	18	8379346	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.216958035462099	0.514
18	8379344	T	C	18	8379346	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.247987166929246	0.526
18	8379344	T	G	18	8379346	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.192883403453248	0.544
18	8379345	G	A	18	8379347	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.01555526109879E-5	0.014
18	8379345	G	C	18	8379347	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.95021856859317E-5	0.014
18	8379345	G	T	18	8379347	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.79907284441388E-4	0.006
18	8379346	C	A	18	8379348	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.75538498902536E-5	0.004
18	8379346	C	G	18	8379348	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.62326448093353E-4	0.0
18	8379346	C	T	18	8379348	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.6028023341432E-4	0.004
18	8380282	T	A	18	8380284	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.019948982468338	0.32
18	8380282	T	C	18	8380284	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.29385828648558E-4	0.122
18	8380282	T	G	18	8380284	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00605359272416894	0.342
18	8380283	T	A	18	8380285	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999891811638267	0.958
18	8380283	T	C	18	8380285	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0015850350796964	0.156
18	8380283	T	G	18	8380285	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.268802964197752	0.458
18	8380284	G	A	18	8380286	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.0481622953853E-4	0.034
18	8380284	G	C	18	8380286	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.61462050535013E-5	0.006
18	8380284	G	T	18	8380286	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.95133634828741E-5	0.022
18	8380285	T	A	18	8380287	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999757783926607	0.98
18	8380285	T	C	18	8380287	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.45503578809954E-4	0.024
18	8380285	T	G	18	8380287	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0106616745970595	0.102
18	8380286	G	A	18	8380288	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00112279509426954	0.044
18	8380286	G	C	18	8380288	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.47742882340844E-4	0.006
18	8380286	G	T	18	8380288	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.71588038123301E-4	0.002
18	8380287	T	A	18	8380289	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.978236300886181	0.784
18	8380287	T	C	18	8380289	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.90659059663489E-5	0.01
18	8380287	T	G	18	8380289	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.317241325002286	0.59
18	8380288	T	A	18	8380290	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.141101959431688	0.598
18	8380288	T	C	18	8380290	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.44833730616056E-5	0.028
18	8380288	T	G	18	8380290	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0252157921040182	0.546
18	8380289	T	A	18	8380291	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999832121627546	0.962
18	8380289	T	C	18	8380291	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.941621549293679	0.408
18	8380289	T	G	18	8380291	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998370341297139	0.932
18	8380290	G	A	18	8380292	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.91491664601049E-4	0.02
18	8380290	G	C	18	8380292	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.62001265659948E-4	0.006
18	8380290	G	T	18	8380292	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.47973455894617E-4	0.008
18	8380291	C	A	18	8380293	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999917517914097	0.956
18	8380291	C	G	18	8380293	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999963215709112	0.994
18	8380291	C	T	18	8380293	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.995081635517382	0.462
18	8380292	A	C	18	8380294	y	y	splicing	PTPRM(NM_002845:exon27:c.3748-2A>C;NM_001105244:exon29:c.3787-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3748-2A>C;ENST00000580170:exon29:c.3787-2A>C;ENST00000400060:exon29:c.3790-2A>C;ENST00000400053:exon27:c.3562-2A>C;ENST00000444013:exon23:c.3109-2A>C)	.	.	0.999988247793601	0.944
18	8380292	A	G	18	8380294	y	y	splicing	PTPRM(NM_002845:exon27:c.3748-2A>G;NM_001105244:exon29:c.3787-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3748-2A>G;ENST00000580170:exon29:c.3787-2A>G;ENST00000400060:exon29:c.3790-2A>G;ENST00000400053:exon27:c.3562-2A>G;ENST00000444013:exon23:c.3109-2A>G)	.	.	0.999988247793601	0.944
18	8380292	A	T	18	8380294	y	y	splicing	PTPRM(NM_002845:exon27:c.3748-2A>T;NM_001105244:exon29:c.3787-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3748-2A>T;ENST00000580170:exon29:c.3787-2A>T;ENST00000400060:exon29:c.3790-2A>T;ENST00000400053:exon27:c.3562-2A>T;ENST00000444013:exon23:c.3109-2A>T)	.	.	0.999988247793601	0.944
18	8380293	G	A	18	8380295	y	y	splicing	PTPRM(NM_002845:exon27:c.3748-1G>A;NM_001105244:exon29:c.3787-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3748-1G>A;ENST00000580170:exon29:c.3787-1G>A;ENST00000400060:exon29:c.3790-1G>A;ENST00000400053:exon27:c.3562-1G>A;ENST00000444013:exon23:c.3109-1G>A)	.	.	0.999990361384395	0.946
18	8380293	G	C	18	8380295	y	y	splicing	PTPRM(NM_002845:exon27:c.3748-1G>C;NM_001105244:exon29:c.3787-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3748-1G>C;ENST00000580170:exon29:c.3787-1G>C;ENST00000400060:exon29:c.3790-1G>C;ENST00000400053:exon27:c.3562-1G>C;ENST00000444013:exon23:c.3109-1G>C)	.	.	0.999990361384395	0.946
18	8380293	G	T	18	8380295	y	y	splicing	PTPRM(NM_002845:exon27:c.3748-1G>T;NM_001105244:exon29:c.3787-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3748-1G>T;ENST00000580170:exon29:c.3787-1G>T;ENST00000400060:exon29:c.3790-1G>T;ENST00000400053:exon27:c.3562-1G>T;ENST00000444013:exon23:c.3109-1G>T)	.	.	0.999990361384395	0.946
18	8380294	A	C	18	8380296	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.A3748C:p.S1250R;PTPRM:NM_001105244:exon29:c.A3787C:p.S1263R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.A3748C:p.S1250R;ENSG00000173482:ENST00000580170:exon29:c.A3787C:p.S1263R;ENSG00000173482:ENST00000400060:exon29:c.A3790C:p.S1264R;ENSG00000173482:ENST00000444013:exon23:c.A3109C:p.S1037R;ENSG00000173482:ENST00000400053:exon27:c.A3562C:p.S1188R;	0.877509187126364	0.576
18	8380294	A	G	18	8380296	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.A3748G:p.S1250G;PTPRM:NM_001105244:exon29:c.A3787G:p.S1263G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.A3748G:p.S1250G;ENSG00000173482:ENST00000580170:exon29:c.A3787G:p.S1263G;ENSG00000173482:ENST00000400060:exon29:c.A3790G:p.S1264G;ENSG00000173482:ENST00000444013:exon23:c.A3109G:p.S1037G;ENSG00000173482:ENST00000400053:exon27:c.A3562G:p.S1188G;	0.766627947075861	0.594
18	8380294	A	T	18	8380296	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.A3748T:p.S1250C;PTPRM:NM_001105244:exon29:c.A3787T:p.S1263C;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.A3748T:p.S1250C;ENSG00000173482:ENST00000580170:exon29:c.A3787T:p.S1263C;ENSG00000173482:ENST00000400060:exon29:c.A3790T:p.S1264C;ENSG00000173482:ENST00000444013:exon23:c.A3109T:p.S1037C;ENSG00000173482:ENST00000400053:exon27:c.A3562T:p.S1188C;	0.804997387075689	0.548
18	8380295	G	A	18	8380297	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.G3749A:p.S1250N;PTPRM:NM_001105244:exon29:c.G3788A:p.S1263N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.G3749A:p.S1250N;ENSG00000173482:ENST00000580170:exon29:c.G3788A:p.S1263N;ENSG00000173482:ENST00000400060:exon29:c.G3791A:p.S1264N;ENSG00000173482:ENST00000444013:exon23:c.G3110A:p.S1037N;ENSG00000173482:ENST00000400053:exon27:c.G3563A:p.S1188N;	0.989420559361221	0.936
18	8380295	G	C	18	8380297	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.G3749C:p.S1250T;PTPRM:NM_001105244:exon29:c.G3788C:p.S1263T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.G3749C:p.S1250T;ENSG00000173482:ENST00000580170:exon29:c.G3788C:p.S1263T;ENSG00000173482:ENST00000400060:exon29:c.G3791C:p.S1264T;ENSG00000173482:ENST00000444013:exon23:c.G3110C:p.S1037T;ENSG00000173482:ENST00000400053:exon27:c.G3563C:p.S1188T;	0.966933262579569	0.898
18	8380295	G	T	18	8380297	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.G3749T:p.S1250I;PTPRM:NM_001105244:exon29:c.G3788T:p.S1263I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.G3749T:p.S1250I;ENSG00000173482:ENST00000580170:exon29:c.G3788T:p.S1263I;ENSG00000173482:ENST00000400060:exon29:c.G3791T:p.S1264I;ENSG00000173482:ENST00000444013:exon23:c.G3110T:p.S1037I;ENSG00000173482:ENST00000400053:exon27:c.G3563T:p.S1188I;	0.98628329272932	0.856
18	8380423	C	A	18	8380425	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.C3877A:p.Q1293K;PTPRM:NM_001105244:exon29:c.C3916A:p.Q1306K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.C3877A:p.Q1293K;ENSG00000173482:ENST00000580170:exon29:c.C3916A:p.Q1306K;ENSG00000173482:ENST00000400060:exon29:c.C3919A:p.Q1307K;ENSG00000173482:ENST00000444013:exon23:c.C3238A:p.Q1080K;ENSG00000173482:ENST00000400053:exon27:c.C3691A:p.Q1231K;	0.892976021506609	0.666
18	8380423	C	G	18	8380425	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.C3877G:p.Q1293E;PTPRM:NM_001105244:exon29:c.C3916G:p.Q1306E;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.C3877G:p.Q1293E;ENSG00000173482:ENST00000580170:exon29:c.C3916G:p.Q1306E;ENSG00000173482:ENST00000400060:exon29:c.C3919G:p.Q1307E;ENSG00000173482:ENST00000444013:exon23:c.C3238G:p.Q1080E;ENSG00000173482:ENST00000400053:exon27:c.C3691G:p.Q1231E;	0.089541064271804	0.438
18	8380423	C	T	18	8380425	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon27:c.C3877T:p.Q1293X;PTPRM:NM_001105244:exon29:c.C3916T:p.Q1306X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon27:c.C3877T:p.Q1293X;ENSG00000173482:ENST00000580170:exon29:c.C3916T:p.Q1306X;ENSG00000173482:ENST00000400060:exon29:c.C3919T:p.Q1307X;ENSG00000173482:ENST00000444013:exon23:c.C3238T:p.Q1080X;ENSG00000173482:ENST00000400053:exon27:c.C3691T:p.Q1231X;	0.994007185589621	0.796
18	8380424	A	C	18	8380426	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.A3878C:p.Q1293P;PTPRM:NM_001105244:exon29:c.A3917C:p.Q1306P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.A3878C:p.Q1293P;ENSG00000173482:ENST00000580170:exon29:c.A3917C:p.Q1306P;ENSG00000173482:ENST00000400060:exon29:c.A3920C:p.Q1307P;ENSG00000173482:ENST00000444013:exon23:c.A3239C:p.Q1080P;ENSG00000173482:ENST00000400053:exon27:c.A3692C:p.Q1231P;	0.993000353377447	0.878
18	8380424	A	G	18	8380426	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.A3878G:p.Q1293R;PTPRM:NM_001105244:exon29:c.A3917G:p.Q1306R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.A3878G:p.Q1293R;ENSG00000173482:ENST00000580170:exon29:c.A3917G:p.Q1306R;ENSG00000173482:ENST00000400060:exon29:c.A3920G:p.Q1307R;ENSG00000173482:ENST00000444013:exon23:c.A3239G:p.Q1080R;ENSG00000173482:ENST00000400053:exon27:c.A3692G:p.Q1231R;	0.998509536798607	0.972
18	8380424	A	T	18	8380426	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.A3878T:p.Q1293L;PTPRM:NM_001105244:exon29:c.A3917T:p.Q1306L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.A3878T:p.Q1293L;ENSG00000173482:ENST00000580170:exon29:c.A3917T:p.Q1306L;ENSG00000173482:ENST00000400060:exon29:c.A3920T:p.Q1307L;ENSG00000173482:ENST00000444013:exon23:c.A3239T:p.Q1080L;ENSG00000173482:ENST00000400053:exon27:c.A3692T:p.Q1231L;	0.995510162513165	0.908
18	8380425	G	A	18	8380427	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon27:c.G3879A:p.Q1293Q;PTPRM:NM_001105244:exon29:c.G3918A:p.Q1306Q;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.G3879A:p.Q1293Q;ENSG00000173482:ENST00000580170:exon29:c.G3918A:p.Q1306Q;ENSG00000173482:ENST00000400060:exon29:c.G3921A:p.Q1307Q;ENSG00000173482:ENST00000444013:exon23:c.G3240A:p.Q1080Q;ENSG00000173482:ENST00000400053:exon27:c.G3693A:p.Q1231Q;	0.999362209982731	0.964
18	8380425	G	C	18	8380427	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.G3879C:p.Q1293H;PTPRM:NM_001105244:exon29:c.G3918C:p.Q1306H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.G3879C:p.Q1293H;ENSG00000173482:ENST00000580170:exon29:c.G3918C:p.Q1306H;ENSG00000173482:ENST00000400060:exon29:c.G3921C:p.Q1307H;ENSG00000173482:ENST00000444013:exon23:c.G3240C:p.Q1080H;ENSG00000173482:ENST00000400053:exon27:c.G3693C:p.Q1231H;	0.999987049081531	0.988
18	8380425	G	T	18	8380427	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon27:c.G3879T:p.Q1293H;PTPRM:NM_001105244:exon29:c.G3918T:p.Q1306H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon27:c.G3879T:p.Q1293H;ENSG00000173482:ENST00000580170:exon29:c.G3918T:p.Q1306H;ENSG00000173482:ENST00000400060:exon29:c.G3921T:p.Q1307H;ENSG00000173482:ENST00000444013:exon23:c.G3240T:p.Q1080H;ENSG00000173482:ENST00000400053:exon27:c.G3693T:p.Q1231H;	0.999969298935102	0.99
18	8380426	G	A	18	8380428	y	y	splicing	PTPRM(NM_002845:exon27:c.3879+1G>A;NM_001105244:exon29:c.3918+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3879+1G>A;ENST00000580170:exon29:c.3918+1G>A;ENST00000400060:exon29:c.3921+1G>A;ENST00000400053:exon27:c.3693+1G>A;ENST00000444013:exon23:c.3240+1G>A)	.	.	0.999988247793601	0.926
18	8380426	G	C	18	8380428	y	y	splicing	PTPRM(NM_002845:exon27:c.3879+1G>C;NM_001105244:exon29:c.3918+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3879+1G>C;ENST00000580170:exon29:c.3918+1G>C;ENST00000400060:exon29:c.3921+1G>C;ENST00000400053:exon27:c.3693+1G>C;ENST00000444013:exon23:c.3240+1G>C)	.	.	0.999988247793601	0.926
18	8380426	G	T	18	8380428	y	y	splicing	PTPRM(NM_002845:exon27:c.3879+1G>T;NM_001105244:exon29:c.3918+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3879+1G>T;ENST00000580170:exon29:c.3918+1G>T;ENST00000400060:exon29:c.3921+1G>T;ENST00000400053:exon27:c.3693+1G>T;ENST00000444013:exon23:c.3240+1G>T)	.	.	0.999988247793601	0.926
18	8380427	T	A	18	8380429	y	y	splicing	PTPRM(NM_002845:exon27:c.3879+2T>A;NM_001105244:exon29:c.3918+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3879+2T>A;ENST00000580170:exon29:c.3918+2T>A;ENST00000400060:exon29:c.3921+2T>A;ENST00000400053:exon27:c.3693+2T>A;ENST00000444013:exon23:c.3240+2T>A)	.	.	0.999992446697775	0.93
18	8380427	T	C	18	8380429	y	y	splicing	PTPRM(NM_002845:exon27:c.3879+2T>C;NM_001105244:exon29:c.3918+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3879+2T>C;ENST00000580170:exon29:c.3918+2T>C;ENST00000400060:exon29:c.3921+2T>C;ENST00000400053:exon27:c.3693+2T>C;ENST00000444013:exon23:c.3240+2T>C)	.	.	0.999951700573546	0.854
18	8380427	T	G	18	8380429	y	y	splicing	PTPRM(NM_002845:exon27:c.3879+2T>G;NM_001105244:exon29:c.3918+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon27:c.3879+2T>G;ENST00000580170:exon29:c.3918+2T>G;ENST00000400060:exon29:c.3921+2T>G;ENST00000400053:exon27:c.3693+2T>G;ENST00000444013:exon23:c.3240+2T>G)	.	.	0.999992446697775	0.93
18	8380428	G	A	18	8380430	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.30115563871383E-5	0.006
18	8380428	G	C	18	8380430	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0488296157636492	0.258
18	8380428	G	T	18	8380430	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.147040800515855	0.34
18	8380429	A	C	18	8380431	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.820771370818788	0.604
18	8380429	A	G	18	8380431	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.882939404036712	0.53
18	8380429	A	T	18	8380431	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.954875430706799	0.664
18	8380430	G	A	18	8380432	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997721373936957	0.898
18	8380430	G	C	18	8380432	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997207681048791	0.856
18	8380430	G	T	18	8380432	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99780035161597	0.812
18	8380431	A	C	18	8380433	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.75974844931829E-5	0.002
18	8380431	A	G	18	8380433	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.3371854051077E-5	0.0
18	8380431	A	T	18	8380433	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.07013456364837E-5	0.008
18	8380432	C	A	18	8380434	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.3265434253836E-5	0.0
18	8380432	C	G	18	8380434	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.12956558414137E-5	0.0
18	8380432	C	T	18	8380434	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.63705102432662E-4	0.004
18	8380433	C	A	18	8380435	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.69804235104544E-5	0.0
18	8380433	C	G	18	8380435	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.24135884897912E-4	0.0
18	8380433	C	T	18	8380435	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.49109086632222E-5	0.0
18	8384547	T	A	18	8384549	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.90672719753446	0.764
18	8384547	T	C	18	8384549	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0480584693606899	0.132
18	8384547	T	G	18	8384549	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.956182833626427	0.676
18	8384548	T	A	18	8384550	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.989790679561828	0.732
18	8384548	T	C	18	8384550	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0390864117518928	0.192
18	8384548	T	G	18	8384550	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.949401517306574	0.704
18	8384549	T	A	18	8384551	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.613704534906093	0.454
18	8384549	T	C	18	8384551	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.40769957992123E-5	0.138
18	8384549	T	G	18	8384551	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.482895378322203	0.522
18	8384550	T	A	18	8384552	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999984255849151	0.97
18	8384550	T	C	18	8384552	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00240917932802403	0.11
18	8384550	T	G	18	8384552	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.959375268511883	0.826
18	8384551	G	A	18	8384553	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.64210733468013E-4	0.066
18	8384551	G	C	18	8384553	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.43310292911789E-4	0.008
18	8384551	G	T	18	8384553	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.02523287645501E-4	0.024
18	8384552	A	C	18	8384554	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.82555322135499E-4	0.014
18	8384552	A	G	18	8384554	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.32440129133348E-5	0.014
18	8384552	A	T	18	8384554	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.70438979484535E-4	0.02
18	8384553	A	C	18	8384555	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.88396373634861E-4	0.012
18	8384553	A	G	18	8384555	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997573337457562	0.938
18	8384553	A	T	18	8384555	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.48792446383759E-4	0.018
18	8384554	T	A	18	8384556	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.84091337102285	0.724
18	8384554	T	C	18	8384556	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00119749869428723	0.1
18	8384554	T	G	18	8384556	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999911231710615	0.95
18	8384555	T	A	18	8384557	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.19235347096696E-4	0.034
18	8384555	T	C	18	8384557	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.6784949038488E-4	0.088
18	8384555	T	G	18	8384557	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.40441377002794E-4	0.094
18	8384556	C	A	18	8384558	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999317784354138	0.936
18	8384556	C	G	18	8384558	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999926748010515	0.926
18	8384556	C	T	18	8384558	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.219166772341187	0.136
18	8384557	A	C	18	8384559	y	y	splicing	PTPRM(NM_002845:exon28:c.3880-2A>C;NM_001105244:exon30:c.3919-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.3880-2A>C;ENST00000580170:exon30:c.3919-2A>C;ENST00000400060:exon30:c.3922-2A>C;ENST00000400053:exon28:c.3694-2A>C;ENST00000444013:exon24:c.3241-2A>C)	.	.	0.999993143195943	0.934
18	8384557	A	G	18	8384559	y	y	splicing	PTPRM(NM_002845:exon28:c.3880-2A>G;NM_001105244:exon30:c.3919-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.3880-2A>G;ENST00000580170:exon30:c.3919-2A>G;ENST00000400060:exon30:c.3922-2A>G;ENST00000400053:exon28:c.3694-2A>G;ENST00000444013:exon24:c.3241-2A>G)	.	.	0.999993143195943	0.934
18	8384557	A	T	18	8384559	y	y	splicing	PTPRM(NM_002845:exon28:c.3880-2A>T;NM_001105244:exon30:c.3919-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.3880-2A>T;ENST00000580170:exon30:c.3919-2A>T;ENST00000400060:exon30:c.3922-2A>T;ENST00000400053:exon28:c.3694-2A>T;ENST00000444013:exon24:c.3241-2A>T)	.	.	0.999993143195943	0.934
18	8384558	G	A	18	8384560	y	y	splicing	PTPRM(NM_002845:exon28:c.3880-1G>A;NM_001105244:exon30:c.3919-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.3880-1G>A;ENST00000580170:exon30:c.3919-1G>A;ENST00000400060:exon30:c.3922-1G>A;ENST00000400053:exon28:c.3694-1G>A;ENST00000444013:exon24:c.3241-1G>A)	.	.	0.999990896395761	0.938
18	8384558	G	C	18	8384560	y	y	splicing	PTPRM(NM_002845:exon28:c.3880-1G>C;NM_001105244:exon30:c.3919-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.3880-1G>C;ENST00000580170:exon30:c.3919-1G>C;ENST00000400060:exon30:c.3922-1G>C;ENST00000400053:exon28:c.3694-1G>C;ENST00000444013:exon24:c.3241-1G>C)	.	.	0.999990896395761	0.938
18	8384558	G	T	18	8384560	y	y	splicing	PTPRM(NM_002845:exon28:c.3880-1G>T;NM_001105244:exon30:c.3919-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.3880-1G>T;ENST00000580170:exon30:c.3919-1G>T;ENST00000400060:exon30:c.3922-1G>T;ENST00000400053:exon28:c.3694-1G>T;ENST00000444013:exon24:c.3241-1G>T)	.	.	0.999990896395761	0.938
18	8384559	T	A	18	8384561	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.T3880A:p.L1294M;PTPRM:NM_001105244:exon30:c.T3919A:p.L1307M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.T3880A:p.L1294M;ENSG00000173482:ENST00000580170:exon30:c.T3919A:p.L1307M;ENSG00000173482:ENST00000400060:exon30:c.T3922A:p.L1308M;ENSG00000173482:ENST00000444013:exon24:c.T3241A:p.L1081M;ENSG00000173482:ENST00000400053:exon28:c.T3694A:p.L1232M;	1.43925288552478E-4	0.18
18	8384559	T	C	18	8384561	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon28:c.T3880C:p.L1294L;PTPRM:NM_001105244:exon30:c.T3919C:p.L1307L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.T3880C:p.L1294L;ENSG00000173482:ENST00000580170:exon30:c.T3919C:p.L1307L;ENSG00000173482:ENST00000400060:exon30:c.T3922C:p.L1308L;ENSG00000173482:ENST00000444013:exon24:c.T3241C:p.L1081L;ENSG00000173482:ENST00000400053:exon28:c.T3694C:p.L1232L;	1.73442749014799E-4	0.05
18	8384559	T	G	18	8384561	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.T3880G:p.L1294V;PTPRM:NM_001105244:exon30:c.T3919G:p.L1307V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.T3880G:p.L1294V;ENSG00000173482:ENST00000580170:exon30:c.T3919G:p.L1307V;ENSG00000173482:ENST00000400060:exon30:c.T3922G:p.L1308V;ENSG00000173482:ENST00000444013:exon24:c.T3241G:p.L1081V;ENSG00000173482:ENST00000400053:exon28:c.T3694G:p.L1232V;	5.63010383140531E-4	0.142
18	8384560	T	A	18	8384562	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon28:c.T3881A:p.L1294X;PTPRM:NM_001105244:exon30:c.T3920A:p.L1307X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon28:c.T3881A:p.L1294X;ENSG00000173482:ENST00000580170:exon30:c.T3920A:p.L1307X;ENSG00000173482:ENST00000400060:exon30:c.T3923A:p.L1308X;ENSG00000173482:ENST00000444013:exon24:c.T3242A:p.L1081X;ENSG00000173482:ENST00000400053:exon28:c.T3695A:p.L1232X;	0.0215899537252909	0.494
18	8384560	T	C	18	8384562	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.T3881C:p.L1294S;PTPRM:NM_001105244:exon30:c.T3920C:p.L1307S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.T3881C:p.L1294S;ENSG00000173482:ENST00000580170:exon30:c.T3920C:p.L1307S;ENSG00000173482:ENST00000400060:exon30:c.T3923C:p.L1308S;ENSG00000173482:ENST00000444013:exon24:c.T3242C:p.L1081S;ENSG00000173482:ENST00000400053:exon28:c.T3695C:p.L1232S;	0.00561035292448282	0.21
18	8384560	T	G	18	8384562	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.T3881G:p.L1294W;PTPRM:NM_001105244:exon30:c.T3920G:p.L1307W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.T3881G:p.L1294W;ENSG00000173482:ENST00000580170:exon30:c.T3920G:p.L1307W;ENSG00000173482:ENST00000400060:exon30:c.T3923G:p.L1308W;ENSG00000173482:ENST00000444013:exon24:c.T3242G:p.L1081W;ENSG00000173482:ENST00000400053:exon28:c.T3695G:p.L1232W;	0.00340499192218855	0.12
18	8384682	A	C	18	8384684	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon28:c.A4003C:p.R1335R;PTPRM:NM_001105244:exon30:c.A4042C:p.R1348R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.A4003C:p.R1335R;ENSG00000173482:ENST00000580170:exon30:c.A4042C:p.R1348R;ENSG00000173482:ENST00000400060:exon30:c.A4045C:p.R1349R;ENSG00000173482:ENST00000444013:exon24:c.A3364C:p.R1122R;ENSG00000173482:ENST00000400053:exon28:c.A3817C:p.R1273R;	9.62239308098529E-5	0.03
18	8384682	A	G	18	8384684	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.A4003G:p.R1335G;PTPRM:NM_001105244:exon30:c.A4042G:p.R1348G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.A4003G:p.R1335G;ENSG00000173482:ENST00000580170:exon30:c.A4042G:p.R1348G;ENSG00000173482:ENST00000400060:exon30:c.A4045G:p.R1349G;ENSG00000173482:ENST00000444013:exon24:c.A3364G:p.R1122G;ENSG00000173482:ENST00000400053:exon28:c.A3817G:p.R1273G;	2.95453910113431E-4	0.262
18	8384682	A	T	18	8384684	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon28:c.A4003T:p.R1335X;PTPRM:NM_001105244:exon30:c.A4042T:p.R1348X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon28:c.A4003T:p.R1335X;ENSG00000173482:ENST00000580170:exon30:c.A4042T:p.R1348X;ENSG00000173482:ENST00000400060:exon30:c.A4045T:p.R1349X;ENSG00000173482:ENST00000444013:exon24:c.A3364T:p.R1122X;ENSG00000173482:ENST00000400053:exon28:c.A3817T:p.R1273X;	0.118702002900715	0.46
18	8384683	G	A	18	8384685	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.G4004A:p.R1335K;PTPRM:NM_001105244:exon30:c.G4043A:p.R1348K;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.G4004A:p.R1335K;ENSG00000173482:ENST00000580170:exon30:c.G4043A:p.R1348K;ENSG00000173482:ENST00000400060:exon30:c.G4046A:p.R1349K;ENSG00000173482:ENST00000444013:exon24:c.G3365A:p.R1122K;ENSG00000173482:ENST00000400053:exon28:c.G3818A:p.R1273K;	0.85821111274594	0.504
18	8384683	G	C	18	8384685	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.G4004C:p.R1335T;PTPRM:NM_001105244:exon30:c.G4043C:p.R1348T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.G4004C:p.R1335T;ENSG00000173482:ENST00000580170:exon30:c.G4043C:p.R1348T;ENSG00000173482:ENST00000400060:exon30:c.G4046C:p.R1349T;ENSG00000173482:ENST00000444013:exon24:c.G3365C:p.R1122T;ENSG00000173482:ENST00000400053:exon28:c.G3818C:p.R1273T;	0.981737170292818	0.782
18	8384683	G	T	18	8384685	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.G4004T:p.R1335I;PTPRM:NM_001105244:exon30:c.G4043T:p.R1348I;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.G4004T:p.R1335I;ENSG00000173482:ENST00000580170:exon30:c.G4043T:p.R1348I;ENSG00000173482:ENST00000400060:exon30:c.G4046T:p.R1349I;ENSG00000173482:ENST00000444013:exon24:c.G3365T:p.R1122I;ENSG00000173482:ENST00000400053:exon28:c.G3818T:p.R1273I;	0.984937792607074	0.776
18	8384684	A	C	18	8384686	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.A4005C:p.R1335S;PTPRM:NM_001105244:exon30:c.A4044C:p.R1348S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.A4005C:p.R1335S;ENSG00000173482:ENST00000580170:exon30:c.A4044C:p.R1348S;ENSG00000173482:ENST00000400060:exon30:c.A4047C:p.R1349S;ENSG00000173482:ENST00000444013:exon24:c.A3366C:p.R1122S;ENSG00000173482:ENST00000400053:exon28:c.A3819C:p.R1273S;	2.25116790108331E-5	0.156
18	8384684	A	G	18	8384686	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon28:c.A4005G:p.R1335R;PTPRM:NM_001105244:exon30:c.A4044G:p.R1348R;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.A4005G:p.R1335R;ENSG00000173482:ENST00000580170:exon30:c.A4044G:p.R1348R;ENSG00000173482:ENST00000400060:exon30:c.A4047G:p.R1349R;ENSG00000173482:ENST00000444013:exon24:c.A3366G:p.R1122R;ENSG00000173482:ENST00000400053:exon28:c.A3819G:p.R1273R;	0.00122402511266762	0.214
18	8384684	A	T	18	8384686	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon28:c.A4005T:p.R1335S;PTPRM:NM_001105244:exon30:c.A4044T:p.R1348S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon28:c.A4005T:p.R1335S;ENSG00000173482:ENST00000580170:exon30:c.A4044T:p.R1348S;ENSG00000173482:ENST00000400060:exon30:c.A4047T:p.R1349S;ENSG00000173482:ENST00000444013:exon24:c.A3366T:p.R1122S;ENSG00000173482:ENST00000400053:exon28:c.A3819T:p.R1273S;	8.23050514549126E-4	0.214
18	8384685	G	A	18	8384687	y	y	splicing	PTPRM(NM_002845:exon28:c.4005+1G>A;NM_001105244:exon30:c.4044+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.4005+1G>A;ENST00000580170:exon30:c.4044+1G>A;ENST00000400060:exon30:c.4047+1G>A;ENST00000400053:exon28:c.3819+1G>A;ENST00000444013:exon24:c.3366+1G>A)	.	.	0.999988247793601	0.934
18	8384685	G	C	18	8384687	y	y	splicing	PTPRM(NM_002845:exon28:c.4005+1G>C;NM_001105244:exon30:c.4044+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.4005+1G>C;ENST00000580170:exon30:c.4044+1G>C;ENST00000400060:exon30:c.4047+1G>C;ENST00000400053:exon28:c.3819+1G>C;ENST00000444013:exon24:c.3366+1G>C)	.	.	0.999988247793601	0.934
18	8384685	G	T	18	8384687	y	y	splicing	PTPRM(NM_002845:exon28:c.4005+1G>T;NM_001105244:exon30:c.4044+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.4005+1G>T;ENST00000580170:exon30:c.4044+1G>T;ENST00000400060:exon30:c.4047+1G>T;ENST00000400053:exon28:c.3819+1G>T;ENST00000444013:exon24:c.3366+1G>T)	.	.	0.999988247793601	0.934
18	8384686	T	A	18	8384688	y	y	splicing	PTPRM(NM_002845:exon28:c.4005+2T>A;NM_001105244:exon30:c.4044+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.4005+2T>A;ENST00000580170:exon30:c.4044+2T>A;ENST00000400060:exon30:c.4047+2T>A;ENST00000400053:exon28:c.3819+2T>A;ENST00000444013:exon24:c.3366+2T>A)	.	.	0.999993519952936	0.946
18	8384686	T	C	18	8384688	y	y	splicing	PTPRM(NM_002845:exon28:c.4005+2T>C;NM_001105244:exon30:c.4044+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.4005+2T>C;ENST00000580170:exon30:c.4044+2T>C;ENST00000400060:exon30:c.4047+2T>C;ENST00000400053:exon28:c.3819+2T>C;ENST00000444013:exon24:c.3366+2T>C)	.	.	0.99995320876787	0.9
18	8384686	T	G	18	8384688	y	y	splicing	PTPRM(NM_002845:exon28:c.4005+2T>G;NM_001105244:exon30:c.4044+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon28:c.4005+2T>G;ENST00000580170:exon30:c.4044+2T>G;ENST00000400060:exon30:c.4047+2T>G;ENST00000400053:exon28:c.3819+2T>G;ENST00000444013:exon24:c.3366+2T>G)	.	.	0.999993519952936	0.946
18	8384687	A	C	18	8384689	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999607106734429	0.956
18	8384687	A	G	18	8384689	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.967869873319978	0.606
18	8384687	A	T	18	8384689	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999747321212378	0.958
18	8384688	A	C	18	8384690	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998775720349631	0.836
18	8384688	A	G	18	8384690	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999692427726036	0.922
18	8384688	A	T	18	8384690	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.998910496596996	0.874
18	8384689	G	A	18	8384691	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999972088216087	0.992
18	8384689	G	C	18	8384691	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99998107798581	0.996
18	8384689	G	T	18	8384691	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999973624480202	0.994
18	8384690	A	C	18	8384692	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.81670474155163E-5	0.056
18	8384690	A	G	18	8384692	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.26114262284927E-5	0.012
18	8384690	A	T	18	8384692	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	8.60670647722392E-5	0.062
18	8384691	G	A	18	8384693	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.91577944109263E-5	0.0
18	8384691	G	C	18	8384693	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.178920686699E-5	0.0
18	8384691	G	T	18	8384693	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.63476245021937E-5	0.002
18	8384692	A	C	18	8384694	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.83277102901073E-5	0.002
18	8384692	A	G	18	8384694	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.83277102901073E-5	0.002
18	8384692	A	T	18	8384694	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.33141600191487E-5	0.0
18	8387058	T	A	18	8387060	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.997155241256418	0.632
18	8387058	T	C	18	8387060	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.74519386425515E-4	0.008
18	8387058	T	G	18	8387060	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.54584492481319E-4	0.052
18	8387059	G	A	18	8387061	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.9580272406814E-5	0.002
18	8387059	G	C	18	8387061	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.11599788285826E-6	0.002
18	8387059	G	T	18	8387061	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.328702068896E-5	0.054
18	8387060	T	A	18	8387062	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00277298991499085	0.132
18	8387060	T	C	18	8387062	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.27713706144294E-4	0.014
18	8387060	T	G	18	8387062	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00186092427471372	0.128
18	8387061	T	A	18	8387063	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00245166614156971	0.16
18	8387061	T	C	18	8387063	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.00054361696854E-5	0.0
18	8387061	T	G	18	8387063	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.23495916571884E-4	0.09
18	8387062	C	A	18	8387064	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00127831449143964	0.046
18	8387062	C	G	18	8387064	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.7216845704387E-4	0.046
18	8387062	C	T	18	8387064	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.35002975936899E-5	0.002
18	8387063	T	A	18	8387065	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.003200891759246	0.072
18	8387063	T	C	18	8387065	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.55233976566423E-4	0.006
18	8387063	T	G	18	8387065	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00245135290082279	0.086
18	8387064	T	A	18	8387066	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00126447781041861	0.074
18	8387064	T	C	18	8387066	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.27338100016999E-5	0.112
18	8387064	T	G	18	8387066	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.79603682433045E-4	0.106
18	8387065	C	A	18	8387067	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.976866286585725	0.818
18	8387065	C	G	18	8387067	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.92270650563947E-4	0.11
18	8387065	C	T	18	8387067	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.19551684620324E-5	0.0
18	8387066	G	A	18	8387068	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.18313834624815E-4	0.002
18	8387066	G	C	18	8387068	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.11808828334363E-5	0.01
18	8387066	G	T	18	8387068	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.38995120270596E-4	0.018
18	8387067	T	A	18	8387069	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00240611170053458	0.156
18	8387067	T	C	18	8387069	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.70674999528064E-5	0.0
18	8387067	T	G	18	8387069	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.955894690409279	0.734
18	8387068	A	C	18	8387070	y	y	splicing	PTPRM(NM_002845:exon29:c.4006-2A>C;NM_001105244:exon31:c.4045-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4006-2A>C;ENST00000580170:exon31:c.4045-2A>C;ENST00000400060:exon31:c.4048-2A>C;ENST00000400053:exon29:c.3820-2A>C;ENST00000444013:exon25:c.3367-2A>C)	.	.	0.999988247793601	0.928
18	8387068	A	G	18	8387070	y	y	splicing	PTPRM(NM_002845:exon29:c.4006-2A>G;NM_001105244:exon31:c.4045-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4006-2A>G;ENST00000580170:exon31:c.4045-2A>G;ENST00000400060:exon31:c.4048-2A>G;ENST00000400053:exon29:c.3820-2A>G;ENST00000444013:exon25:c.3367-2A>G)	.	.	0.999988247793601	0.928
18	8387068	A	T	18	8387070	y	y	splicing	PTPRM(NM_002845:exon29:c.4006-2A>T;NM_001105244:exon31:c.4045-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4006-2A>T;ENST00000580170:exon31:c.4045-2A>T;ENST00000400060:exon31:c.4048-2A>T;ENST00000400053:exon29:c.3820-2A>T;ENST00000444013:exon25:c.3367-2A>T)	.	.	0.999988247793601	0.928
18	8387069	G	A	18	8387071	y	y	splicing	PTPRM(NM_002845:exon29:c.4006-1G>A;NM_001105244:exon31:c.4045-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4006-1G>A;ENST00000580170:exon31:c.4045-1G>A;ENST00000400060:exon31:c.4048-1G>A;ENST00000400053:exon29:c.3820-1G>A;ENST00000444013:exon25:c.3367-1G>A)	.	.	0.999986675681007	0.932
18	8387069	G	C	18	8387071	y	y	splicing	PTPRM(NM_002845:exon29:c.4006-1G>C;NM_001105244:exon31:c.4045-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4006-1G>C;ENST00000580170:exon31:c.4045-1G>C;ENST00000400060:exon31:c.4048-1G>C;ENST00000400053:exon29:c.3820-1G>C;ENST00000444013:exon25:c.3367-1G>C)	.	.	0.999986675681007	0.932
18	8387069	G	T	18	8387071	y	y	splicing	PTPRM(NM_002845:exon29:c.4006-1G>T;NM_001105244:exon31:c.4045-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4006-1G>T;ENST00000580170:exon31:c.4045-1G>T;ENST00000400060:exon31:c.4048-1G>T;ENST00000400053:exon29:c.3820-1G>T;ENST00000444013:exon25:c.3367-1G>T)	.	.	0.999986675681007	0.932
18	8387070	C	A	18	8387072	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.C4006A:p.P1336T;PTPRM:NM_001105244:exon31:c.C4045A:p.P1349T;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.C4006A:p.P1336T;ENSG00000173482:ENST00000580170:exon31:c.C4045A:p.P1349T;ENSG00000173482:ENST00000400060:exon31:c.C4048A:p.P1350T;ENSG00000173482:ENST00000444013:exon25:c.C3367A:p.P1123T;ENSG00000173482:ENST00000400053:exon29:c.C3820A:p.P1274T;	0.960951089009756	0.758
18	8387070	C	G	18	8387072	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.C4006G:p.P1336A;PTPRM:NM_001105244:exon31:c.C4045G:p.P1349A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.C4006G:p.P1336A;ENSG00000173482:ENST00000580170:exon31:c.C4045G:p.P1349A;ENSG00000173482:ENST00000400060:exon31:c.C4048G:p.P1350A;ENSG00000173482:ENST00000444013:exon25:c.C3367G:p.P1123A;ENSG00000173482:ENST00000400053:exon29:c.C3820G:p.P1274A;	0.698014669349011	0.452
18	8387070	C	T	18	8387072	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.C4006T:p.P1336S;PTPRM:NM_001105244:exon31:c.C4045T:p.P1349S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.C4006T:p.P1336S;ENSG00000173482:ENST00000580170:exon31:c.C4045T:p.P1349S;ENSG00000173482:ENST00000400060:exon31:c.C4048T:p.P1350S;ENSG00000173482:ENST00000444013:exon25:c.C3367T:p.P1123S;ENSG00000173482:ENST00000400053:exon29:c.C3820T:p.P1274S;	0.995149446240575	0.888
18	8387071	C	A	18	8387073	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.C4007A:p.P1336H;PTPRM:NM_001105244:exon31:c.C4046A:p.P1349H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.C4007A:p.P1336H;ENSG00000173482:ENST00000580170:exon31:c.C4046A:p.P1349H;ENSG00000173482:ENST00000400060:exon31:c.C4049A:p.P1350H;ENSG00000173482:ENST00000444013:exon25:c.C3368A:p.P1123H;ENSG00000173482:ENST00000400053:exon29:c.C3821A:p.P1274H;	0.990410481935117	0.838
18	8387071	C	G	18	8387073	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.C4007G:p.P1336R;PTPRM:NM_001105244:exon31:c.C4046G:p.P1349R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.C4007G:p.P1336R;ENSG00000173482:ENST00000580170:exon31:c.C4046G:p.P1349R;ENSG00000173482:ENST00000400060:exon31:c.C4049G:p.P1350R;ENSG00000173482:ENST00000444013:exon25:c.C3368G:p.P1123R;ENSG00000173482:ENST00000400053:exon29:c.C3821G:p.P1274R;	0.980641501932823	0.704
18	8387071	C	T	18	8387073	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.C4007T:p.P1336L;PTPRM:NM_001105244:exon31:c.C4046T:p.P1349L;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.C4007T:p.P1336L;ENSG00000173482:ENST00000580170:exon31:c.C4046T:p.P1349L;ENSG00000173482:ENST00000400060:exon31:c.C4049T:p.P1350L;ENSG00000173482:ENST00000444013:exon25:c.C3368T:p.P1123L;ENSG00000173482:ENST00000400053:exon29:c.C3821T:p.P1274L;	0.96972705498554	0.77
18	8387231	C	A	18	8387233	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon29:c.C4167A:p.C1389X;PTPRM:NM_001105244:exon31:c.C4206A:p.C1402X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon29:c.C4167A:p.C1389X;ENSG00000173482:ENST00000580170:exon31:c.C4206A:p.C1402X;ENSG00000173482:ENST00000400060:exon31:c.C4209A:p.C1403X;ENSG00000173482:ENST00000444013:exon25:c.C3528A:p.C1176X;ENSG00000173482:ENST00000400053:exon29:c.C3981A:p.C1327X;	0.0224717482854383	0.508
18	8387231	C	G	18	8387233	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.C4167G:p.C1389W;PTPRM:NM_001105244:exon31:c.C4206G:p.C1402W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.C4167G:p.C1389W;ENSG00000173482:ENST00000580170:exon31:c.C4206G:p.C1402W;ENSG00000173482:ENST00000400060:exon31:c.C4209G:p.C1403W;ENSG00000173482:ENST00000444013:exon25:c.C3528G:p.C1176W;ENSG00000173482:ENST00000400053:exon29:c.C3981G:p.C1327W;	5.96888919382194E-4	0.138
18	8387231	C	T	18	8387233	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon29:c.C4167T:p.C1389C;PTPRM:NM_001105244:exon31:c.C4206T:p.C1402C;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.C4167T:p.C1389C;ENSG00000173482:ENST00000580170:exon31:c.C4206T:p.C1402C;ENSG00000173482:ENST00000400060:exon31:c.C4209T:p.C1403C;ENSG00000173482:ENST00000444013:exon25:c.C3528T:p.C1176C;ENSG00000173482:ENST00000400053:exon29:c.C3981T:p.C1327C;	0.00758569422300418	0.244
18	8387232	T	A	18	8387234	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.T4168A:p.L1390M;PTPRM:NM_001105244:exon31:c.T4207A:p.L1403M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.T4168A:p.L1390M;ENSG00000173482:ENST00000580170:exon31:c.T4207A:p.L1403M;ENSG00000173482:ENST00000400060:exon31:c.T4210A:p.L1404M;ENSG00000173482:ENST00000444013:exon25:c.T3529A:p.L1177M;ENSG00000173482:ENST00000400053:exon29:c.T3982A:p.L1328M;	4.98124163670236E-6	0.084
18	8387232	T	C	18	8387234	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon29:c.T4168C:p.L1390L;PTPRM:NM_001105244:exon31:c.T4207C:p.L1403L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.T4168C:p.L1390L;ENSG00000173482:ENST00000580170:exon31:c.T4207C:p.L1403L;ENSG00000173482:ENST00000400060:exon31:c.T4210C:p.L1404L;ENSG00000173482:ENST00000444013:exon25:c.T3529C:p.L1177L;ENSG00000173482:ENST00000400053:exon29:c.T3982C:p.L1328L;	1.64929159195977E-5	0.0
18	8387232	T	G	18	8387234	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.T4168G:p.L1390V;PTPRM:NM_001105244:exon31:c.T4207G:p.L1403V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.T4168G:p.L1390V;ENSG00000173482:ENST00000580170:exon31:c.T4207G:p.L1403V;ENSG00000173482:ENST00000400060:exon31:c.T4210G:p.L1404V;ENSG00000173482:ENST00000444013:exon25:c.T3529G:p.L1177V;ENSG00000173482:ENST00000400053:exon29:c.T3982G:p.L1328V;	8.21150528334531E-5	0.034
18	8387233	T	A	18	8387235	y	y	exonic	PTPRM	stopgain SNV	PTPRM:NM_002845:exon29:c.T4169A:p.L1390X;PTPRM:NM_001105244:exon31:c.T4208A:p.L1403X;	exonic	ENSG00000173482	stopgain SNV	ENSG00000173482:ENST00000332175:exon29:c.T4169A:p.L1390X;ENSG00000173482:ENST00000580170:exon31:c.T4208A:p.L1403X;ENSG00000173482:ENST00000400060:exon31:c.T4211A:p.L1404X;ENSG00000173482:ENST00000444013:exon25:c.T3530A:p.L1177X;ENSG00000173482:ENST00000400053:exon29:c.T3983A:p.L1328X;	0.849475241036263	0.816
18	8387233	T	C	18	8387235	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.T4169C:p.L1390S;PTPRM:NM_001105244:exon31:c.T4208C:p.L1403S;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.T4169C:p.L1390S;ENSG00000173482:ENST00000580170:exon31:c.T4208C:p.L1403S;ENSG00000173482:ENST00000400060:exon31:c.T4211C:p.L1404S;ENSG00000173482:ENST00000444013:exon25:c.T3530C:p.L1177S;ENSG00000173482:ENST00000400053:exon29:c.T3983C:p.L1328S;	0.0979974186400108	0.442
18	8387233	T	G	18	8387235	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon29:c.T4169G:p.L1390W;PTPRM:NM_001105244:exon31:c.T4208G:p.L1403W;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon29:c.T4169G:p.L1390W;ENSG00000173482:ENST00000580170:exon31:c.T4208G:p.L1403W;ENSG00000173482:ENST00000400060:exon31:c.T4211G:p.L1404W;ENSG00000173482:ENST00000444013:exon25:c.T3530G:p.L1177W;ENSG00000173482:ENST00000400053:exon29:c.T3983G:p.L1328W;	0.291550795356802	0.344
18	8387234	G	A	18	8387236	y	y	splicing	PTPRM(NM_002845:exon29:c.4169+1G>A;NM_001105244:exon31:c.4208+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4169+1G>A;ENST00000580170:exon31:c.4208+1G>A;ENST00000400060:exon31:c.4211+1G>A;ENST00000400053:exon29:c.3983+1G>A;ENST00000444013:exon25:c.3530+1G>A)	.	.	0.999938422912956	0.93
18	8387234	G	C	18	8387236	y	y	splicing	PTPRM(NM_002845:exon29:c.4169+1G>C;NM_001105244:exon31:c.4208+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4169+1G>C;ENST00000580170:exon31:c.4208+1G>C;ENST00000400060:exon31:c.4211+1G>C;ENST00000400053:exon29:c.3983+1G>C;ENST00000444013:exon25:c.3530+1G>C)	.	.	0.999938422912956	0.942
18	8387234	G	T	18	8387236	y	y	splicing	PTPRM(NM_002845:exon29:c.4169+1G>T;NM_001105244:exon31:c.4208+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4169+1G>T;ENST00000580170:exon31:c.4208+1G>T;ENST00000400060:exon31:c.4211+1G>T;ENST00000400053:exon29:c.3983+1G>T;ENST00000444013:exon25:c.3530+1G>T)	.	.	0.999938422912956	0.942
18	8387235	T	A	18	8387237	y	y	splicing	PTPRM(NM_002845:exon29:c.4169+2T>A;NM_001105244:exon31:c.4208+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4169+2T>A;ENST00000580170:exon31:c.4208+2T>A;ENST00000400060:exon31:c.4211+2T>A;ENST00000400053:exon29:c.3983+2T>A;ENST00000444013:exon25:c.3530+2T>A)	.	.	0.99994568797423	0.93
18	8387235	T	C	18	8387237	y	y	splicing	PTPRM(NM_002845:exon29:c.4169+2T>C;NM_001105244:exon31:c.4208+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4169+2T>C;ENST00000580170:exon31:c.4208+2T>C;ENST00000400060:exon31:c.4211+2T>C;ENST00000400053:exon29:c.3983+2T>C;ENST00000444013:exon25:c.3530+2T>C)	.	.	0.961316586553648	0.682
18	8387235	T	G	18	8387237	y	y	splicing	PTPRM(NM_002845:exon29:c.4169+2T>G;NM_001105244:exon31:c.4208+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon29:c.4169+2T>G;ENST00000580170:exon31:c.4208+2T>G;ENST00000400060:exon31:c.4211+2T>G;ENST00000400053:exon29:c.3983+2T>G;ENST00000444013:exon25:c.3530+2T>G)	.	.	0.99994568797423	0.94
18	8387236	A	C	18	8387238	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999835695144986	0.884
18	8387236	A	G	18	8387238	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00916515807567967	0.138
18	8387236	A	T	18	8387238	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999855068719369	0.882
18	8387237	A	C	18	8387239	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.911241735944469	0.768
18	8387237	A	G	18	8387239	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.983381272239144	0.85
18	8387237	A	T	18	8387239	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.950898381074173	0.79
18	8387238	G	A	18	8387240	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999971312246628	0.99
18	8387238	G	C	18	8387240	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999992476387601	0.96
18	8387238	G	T	18	8387240	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99997289121893	0.978
18	8387239	T	A	18	8387241	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.976432686988318	0.642
18	8387239	T	C	18	8387241	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.946434867298877	0.676
18	8387239	T	G	18	8387241	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.778681711562974	0.628
18	8387240	G	A	18	8387242	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.53838751976699E-5	0.0
18	8387240	G	C	18	8387242	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.97645748960506E-5	0.0
18	8387240	G	T	18	8387242	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.53838751976699E-5	0.0
18	8387241	C	A	18	8387243	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.70468354515916E-4	0.0
18	8387241	C	G	18	8387243	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.56685469463268E-4	0.012
18	8387241	C	T	18	8387243	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.22244207639756E-4	0.0
18	8394462	T	A	18	8394464	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.107256043036899	0.262
18	8394462	T	C	18	8394464	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.64696102546177E-4	0.01
18	8394462	T	G	18	8394464	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00210021090630424	0.236
18	8394463	T	A	18	8394465	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.157546013388925	0.384
18	8394463	T	C	18	8394465	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00204190921604313	0.134
18	8394463	T	G	18	8394465	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.137954328535475	0.394
18	8394464	T	A	18	8394466	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0116439792435393	0.17
18	8394464	T	C	18	8394466	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.78621738177257E-4	0.012
18	8394464	T	G	18	8394466	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00743722368641009	0.178
18	8394465	T	A	18	8394467	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.114654576485369	0.348
18	8394465	T	C	18	8394467	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.87026457646246E-4	0.018
18	8394465	T	G	18	8394467	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.015214261283633	0.316
18	8394466	C	A	18	8394468	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00106387123118389	0.072
18	8394466	C	G	18	8394468	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00101753431876523	0.046
18	8394466	C	T	18	8394468	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	6.51086659571879E-5	0.0
18	8394467	A	C	18	8394469	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.43740642369217E-5	0.002
18	8394467	A	G	18	8394469	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.0339478167547E-5	0.0
18	8394467	A	T	18	8394469	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.6952311357366E-5	0.0
18	8394468	C	A	18	8394470	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99926345841291	0.974
18	8394468	C	G	18	8394470	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99926345841291	0.96
18	8394468	C	T	18	8394470	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.73310014578698E-5	0.002
18	8394469	G	A	18	8394471	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.96475430376527E-5	0.02
18	8394469	G	C	18	8394471	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.98608751451787E-5	0.002
18	8394469	G	T	18	8394471	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.03239794785353E-5	0.002
18	8394470	A	C	18	8394472	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.57455491046874E-5	0.0
18	8394470	A	G	18	8394472	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.1491281413733E-4	0.0
18	8394470	A	T	18	8394472	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.76358086457032E-4	0.164
18	8394471	C	A	18	8394473	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999908877100973	0.836
18	8394471	C	G	18	8394473	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999809257525331	0.972
18	8394471	C	T	18	8394473	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.0996344587299804	0.146
18	8394472	A	C	18	8394474	y	y	splicing	PTPRM(NM_002845:exon30:c.4170-2A>C;NM_001105244:exon32:c.4209-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4170-2A>C;ENST00000580170:exon32:c.4209-2A>C;ENST00000400060:exon32:c.4212-2A>C;ENST00000400053:exon30:c.3984-2A>C;ENST00000444013:exon26:c.3531-2A>C)	.	.	0.999988247793601	0.93
18	8394472	A	G	18	8394474	y	y	splicing	PTPRM(NM_002845:exon30:c.4170-2A>G;NM_001105244:exon32:c.4209-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4170-2A>G;ENST00000580170:exon32:c.4209-2A>G;ENST00000400060:exon32:c.4212-2A>G;ENST00000400053:exon30:c.3984-2A>G;ENST00000444013:exon26:c.3531-2A>G)	.	.	0.999988247793601	0.93
18	8394472	A	T	18	8394474	y	y	splicing	PTPRM(NM_002845:exon30:c.4170-2A>T;NM_001105244:exon32:c.4209-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4170-2A>T;ENST00000580170:exon32:c.4209-2A>T;ENST00000400060:exon32:c.4212-2A>T;ENST00000400053:exon30:c.3984-2A>T;ENST00000444013:exon26:c.3531-2A>T)	.	.	0.999988247793601	0.93
18	8394473	G	A	18	8394475	y	y	splicing	PTPRM(NM_002845:exon30:c.4170-1G>A;NM_001105244:exon32:c.4209-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4170-1G>A;ENST00000580170:exon32:c.4209-1G>A;ENST00000400060:exon32:c.4212-1G>A;ENST00000400053:exon30:c.3984-1G>A;ENST00000444013:exon26:c.3531-1G>A)	.	.	0.999990361384395	0.938
18	8394473	G	C	18	8394475	y	y	splicing	PTPRM(NM_002845:exon30:c.4170-1G>C;NM_001105244:exon32:c.4209-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4170-1G>C;ENST00000580170:exon32:c.4209-1G>C;ENST00000400060:exon32:c.4212-1G>C;ENST00000400053:exon30:c.3984-1G>C;ENST00000444013:exon26:c.3531-1G>C)	.	.	0.999990361384395	0.938
18	8394473	G	T	18	8394475	y	y	splicing	PTPRM(NM_002845:exon30:c.4170-1G>T;NM_001105244:exon32:c.4209-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4170-1G>T;ENST00000580170:exon32:c.4209-1G>T;ENST00000400060:exon32:c.4212-1G>T;ENST00000400053:exon30:c.3984-1G>T;ENST00000444013:exon26:c.3531-1G>T)	.	.	0.999990361384395	0.938
18	8394474	G	A	18	8394476	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon30:c.G4170A:p.L1390L;PTPRM:NM_001105244:exon32:c.G4209A:p.L1403L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.G4170A:p.L1390L;ENSG00000173482:ENST00000580170:exon32:c.G4209A:p.L1403L;ENSG00000173482:ENST00000400060:exon32:c.G4212A:p.L1404L;ENSG00000173482:ENST00000444013:exon26:c.G3531A:p.L1177L;ENSG00000173482:ENST00000400053:exon30:c.G3984A:p.L1328L;	0.228497493401612	0.352
18	8394474	G	C	18	8394476	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.G4170C:p.L1390F;PTPRM:NM_001105244:exon32:c.G4209C:p.L1403F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.G4170C:p.L1390F;ENSG00000173482:ENST00000580170:exon32:c.G4209C:p.L1403F;ENSG00000173482:ENST00000400060:exon32:c.G4212C:p.L1404F;ENSG00000173482:ENST00000444013:exon26:c.G3531C:p.L1177F;ENSG00000173482:ENST00000400053:exon30:c.G3984C:p.L1328F;	0.987734416313007	0.93
18	8394474	G	T	18	8394476	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.G4170T:p.L1390F;PTPRM:NM_001105244:exon32:c.G4209T:p.L1403F;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.G4170T:p.L1390F;ENSG00000173482:ENST00000580170:exon32:c.G4209T:p.L1403F;ENSG00000173482:ENST00000400060:exon32:c.G4212T:p.L1404F;ENSG00000173482:ENST00000444013:exon26:c.G3531T:p.L1177F;ENSG00000173482:ENST00000400053:exon30:c.G3984T:p.L1328F;	0.998444234511436	0.956
18	8394475	A	C	18	8394477	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.A4171C:p.N1391H;PTPRM:NM_001105244:exon32:c.A4210C:p.N1404H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.A4171C:p.N1391H;ENSG00000173482:ENST00000580170:exon32:c.A4210C:p.N1404H;ENSG00000173482:ENST00000400060:exon32:c.A4213C:p.N1405H;ENSG00000173482:ENST00000444013:exon26:c.A3532C:p.N1178H;ENSG00000173482:ENST00000400053:exon30:c.A3985C:p.N1329H;	0.830814271117435	0.806
18	8394475	A	G	18	8394477	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.A4171G:p.N1391D;PTPRM:NM_001105244:exon32:c.A4210G:p.N1404D;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.A4171G:p.N1391D;ENSG00000173482:ENST00000580170:exon32:c.A4210G:p.N1404D;ENSG00000173482:ENST00000400060:exon32:c.A4213G:p.N1405D;ENSG00000173482:ENST00000444013:exon26:c.A3532G:p.N1178D;ENSG00000173482:ENST00000400053:exon30:c.A3985G:p.N1329D;	0.753474552328043	0.662
18	8394475	A	T	18	8394477	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.A4171T:p.N1391Y;PTPRM:NM_001105244:exon32:c.A4210T:p.N1404Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.A4171T:p.N1391Y;ENSG00000173482:ENST00000580170:exon32:c.A4210T:p.N1404Y;ENSG00000173482:ENST00000400060:exon32:c.A4213T:p.N1405Y;ENSG00000173482:ENST00000444013:exon26:c.A3532T:p.N1178Y;ENSG00000173482:ENST00000400053:exon30:c.A3985T:p.N1329Y;	0.803993522320123	0.818
18	8394607	C	A	18	8394609	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.C4303A:p.L1435M;PTPRM:NM_001105244:exon32:c.C4342A:p.L1448M;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.C4303A:p.L1435M;ENSG00000173482:ENST00000580170:exon32:c.C4342A:p.L1448M;ENSG00000173482:ENST00000400060:exon32:c.C4345A:p.L1449M;ENSG00000173482:ENST00000444013:exon26:c.C3664A:p.L1222M;ENSG00000173482:ENST00000400053:exon30:c.C4117A:p.L1373M;	0.965582286176696	0.76
18	8394607	C	G	18	8394609	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.C4303G:p.L1435V;PTPRM:NM_001105244:exon32:c.C4342G:p.L1448V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.C4303G:p.L1435V;ENSG00000173482:ENST00000580170:exon32:c.C4342G:p.L1448V;ENSG00000173482:ENST00000400060:exon32:c.C4345G:p.L1449V;ENSG00000173482:ENST00000444013:exon26:c.C3664G:p.L1222V;ENSG00000173482:ENST00000400053:exon30:c.C4117G:p.L1373V;	0.989584523263682	0.712
18	8394607	C	T	18	8394609	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon30:c.C4303T:p.L1435L;PTPRM:NM_001105244:exon32:c.C4342T:p.L1448L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.C4303T:p.L1435L;ENSG00000173482:ENST00000580170:exon32:c.C4342T:p.L1448L;ENSG00000173482:ENST00000400060:exon32:c.C4345T:p.L1449L;ENSG00000173482:ENST00000444013:exon26:c.C3664T:p.L1222L;ENSG00000173482:ENST00000400053:exon30:c.C4117T:p.L1373L;	0.997395775316431	0.95
18	8394608	T	A	18	8394610	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.T4304A:p.L1435Q;PTPRM:NM_001105244:exon32:c.T4343A:p.L1448Q;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.T4304A:p.L1435Q;ENSG00000173482:ENST00000580170:exon32:c.T4343A:p.L1448Q;ENSG00000173482:ENST00000400060:exon32:c.T4346A:p.L1449Q;ENSG00000173482:ENST00000444013:exon26:c.T3665A:p.L1222Q;ENSG00000173482:ENST00000400053:exon30:c.T4118A:p.L1373Q;	0.676706212729262	0.514
18	8394608	T	C	18	8394610	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.T4304C:p.L1435P;PTPRM:NM_001105244:exon32:c.T4343C:p.L1448P;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.T4304C:p.L1435P;ENSG00000173482:ENST00000580170:exon32:c.T4343C:p.L1448P;ENSG00000173482:ENST00000400060:exon32:c.T4346C:p.L1449P;ENSG00000173482:ENST00000444013:exon26:c.T3665C:p.L1222P;ENSG00000173482:ENST00000400053:exon30:c.T4118C:p.L1373P;	0.95011125914298	0.786
18	8394608	T	G	18	8394610	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon30:c.T4304G:p.L1435R;PTPRM:NM_001105244:exon32:c.T4343G:p.L1448R;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.T4304G:p.L1435R;ENSG00000173482:ENST00000580170:exon32:c.T4343G:p.L1448R;ENSG00000173482:ENST00000400060:exon32:c.T4346G:p.L1449R;ENSG00000173482:ENST00000444013:exon26:c.T3665G:p.L1222R;ENSG00000173482:ENST00000400053:exon30:c.T4118G:p.L1373R;	0.966099182450425	0.736
18	8394609	G	A	18	8394611	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon30:c.G4305A:p.L1435L;PTPRM:NM_001105244:exon32:c.G4344A:p.L1448L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.G4305A:p.L1435L;ENSG00000173482:ENST00000580170:exon32:c.G4344A:p.L1448L;ENSG00000173482:ENST00000400060:exon32:c.G4347A:p.L1449L;ENSG00000173482:ENST00000444013:exon26:c.G3666A:p.L1222L;ENSG00000173482:ENST00000400053:exon30:c.G4119A:p.L1373L;	0.999989630402093	1.0
18	8394609	G	C	18	8394611	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon30:c.G4305C:p.L1435L;PTPRM:NM_001105244:exon32:c.G4344C:p.L1448L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.G4305C:p.L1435L;ENSG00000173482:ENST00000580170:exon32:c.G4344C:p.L1448L;ENSG00000173482:ENST00000400060:exon32:c.G4347C:p.L1449L;ENSG00000173482:ENST00000444013:exon26:c.G3666C:p.L1222L;ENSG00000173482:ENST00000400053:exon30:c.G4119C:p.L1373L;	0.999987607160244	1.0
18	8394609	G	T	18	8394611	y	y	exonic	PTPRM	synonymous SNV	PTPRM:NM_002845:exon30:c.G4305T:p.L1435L;PTPRM:NM_001105244:exon32:c.G4344T:p.L1448L;	exonic	ENSG00000173482	synonymous SNV	ENSG00000173482:ENST00000332175:exon30:c.G4305T:p.L1435L;ENSG00000173482:ENST00000580170:exon32:c.G4344T:p.L1448L;ENSG00000173482:ENST00000400060:exon32:c.G4347T:p.L1449L;ENSG00000173482:ENST00000444013:exon26:c.G3666T:p.L1222L;ENSG00000173482:ENST00000400053:exon30:c.G4119T:p.L1373L;	0.999971141773862	0.974
18	8394610	G	A	18	8394612	y	y	splicing	PTPRM(NM_002845:exon30:c.4305+1G>A;NM_001105244:exon32:c.4344+1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4305+1G>A;ENST00000580170:exon32:c.4344+1G>A;ENST00000400060:exon32:c.4347+1G>A;ENST00000400053:exon30:c.4119+1G>A;ENST00000444013:exon26:c.3666+1G>A)	.	.	0.999992425382947	0.94
18	8394610	G	C	18	8394612	y	y	splicing	PTPRM(NM_002845:exon30:c.4305+1G>C;NM_001105244:exon32:c.4344+1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4305+1G>C;ENST00000580170:exon32:c.4344+1G>C;ENST00000400060:exon32:c.4347+1G>C;ENST00000400053:exon30:c.4119+1G>C;ENST00000444013:exon26:c.3666+1G>C)	.	.	0.999992425382947	0.94
18	8394610	G	T	18	8394612	y	y	splicing	PTPRM(NM_002845:exon30:c.4305+1G>T;NM_001105244:exon32:c.4344+1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4305+1G>T;ENST00000580170:exon32:c.4344+1G>T;ENST00000400060:exon32:c.4347+1G>T;ENST00000400053:exon30:c.4119+1G>T;ENST00000444013:exon26:c.3666+1G>T)	.	.	0.999992425382947	0.94
18	8394611	T	A	18	8394613	y	y	splicing	PTPRM(NM_002845:exon30:c.4305+2T>A;NM_001105244:exon32:c.4344+2T>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4305+2T>A;ENST00000580170:exon32:c.4344+2T>A;ENST00000400060:exon32:c.4347+2T>A;ENST00000400053:exon30:c.4119+2T>A;ENST00000444013:exon26:c.3666+2T>A)	.	.	0.999990764389106	0.942
18	8394611	T	C	18	8394613	y	y	splicing	PTPRM(NM_002845:exon30:c.4305+2T>C;NM_001105244:exon32:c.4344+2T>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4305+2T>C;ENST00000580170:exon32:c.4344+2T>C;ENST00000400060:exon32:c.4347+2T>C;ENST00000400053:exon30:c.4119+2T>C;ENST00000444013:exon26:c.3666+2T>C)	.	.	0.999933373721707	0.894
18	8394611	T	G	18	8394613	y	y	splicing	PTPRM(NM_002845:exon30:c.4305+2T>G;NM_001105244:exon32:c.4344+2T>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon30:c.4305+2T>G;ENST00000580170:exon32:c.4344+2T>G;ENST00000400060:exon32:c.4347+2T>G;ENST00000400053:exon30:c.4119+2T>G;ENST00000444013:exon26:c.3666+2T>G)	.	.	0.999990764389106	0.942
18	8394612	A	C	18	8394614	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999707526396455	0.976
18	8394612	A	G	18	8394614	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.99942651789377	0.984
18	8394612	A	T	18	8394614	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999618428425373	0.99
18	8394613	G	A	18	8394615	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.11074879453187E-4	0.07
18	8394613	G	C	18	8394615	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.004668270471728	0.29
18	8394613	G	T	18	8394615	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00242146570012956	0.14
18	8394614	G	A	18	8394616	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999994101656239	0.992
18	8394614	G	C	18	8394616	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999990797875177	0.934
18	8394614	G	T	18	8394616	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.999994101656239	0.98
18	8394615	A	C	18	8394617	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.29378465749997E-5	0.06
18	8394615	A	G	18	8394617	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.73305462962583E-4	0.058
18	8394615	A	T	18	8394617	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.87077052921043E-5	0.02
18	8394616	C	A	18	8394618	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.36943851558281E-4	0.078
18	8394616	C	G	18	8394618	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.11707756183383E-4	0.022
18	8394616	C	T	18	8394618	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.33379916382566E-4	0.012
18	8394617	A	C	18	8394619	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.12650773005937E-5	0.002
18	8394617	A	G	18	8394619	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.78416112795009E-5	0.002
18	8394617	A	T	18	8394619	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.12650773005937E-5	0.002
18	8406095	C	A	18	8406097	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.92694293225638E-5	0.008
18	8406095	C	G	18	8406097	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.8009969412504E-5	0.002
18	8406095	C	T	18	8406097	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.21946853154343E-5	0.0
18	8406096	C	A	18	8406098	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.07410396452018E-5	0.006
18	8406096	C	G	18	8406098	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.80584586323748E-5	0.002
18	8406096	C	T	18	8406098	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.64688241785154E-5	0.002
18	8406097	T	A	18	8406099	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.967925246897895	0.91
18	8406097	T	C	18	8406099	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.82885260060369E-5	0.022
18	8406097	T	G	18	8406099	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.09240811779207E-5	0.068
18	8406098	G	A	18	8406100	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.71163368728003E-5	0.002
18	8406098	G	C	18	8406100	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.91725401604619E-6	0.034
18	8406098	G	T	18	8406100	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.22963649052722E-5	0.002
18	8406099	T	A	18	8406101	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	7.46277335504043E-5	0.024
18	8406099	T	C	18	8406101	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	1.01456688140288E-5	0.004
18	8406099	T	G	18	8406101	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.78489940799756E-5	0.024
18	8406100	T	A	18	8406102	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.36595631954452E-4	0.076
18	8406100	T	C	18	8406102	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.83841010507478E-5	0.01
18	8406100	T	G	18	8406102	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.79660858357568E-5	0.054
18	8406101	T	A	18	8406103	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00147752936070733	0.114
18	8406101	T	C	18	8406103	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	5.5639634059786E-5	0.022
18	8406101	T	G	18	8406103	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00266551344112872	0.124
18	8406102	T	A	18	8406104	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00264854543161572	0.108
18	8406102	T	C	18	8406104	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	2.8325576634285E-4	0.062
18	8406102	T	G	18	8406104	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.00710963938383311	0.188
18	8406103	C	A	18	8406105	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.34508056456558E-5	0.004
18	8406103	C	G	18	8406105	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	4.41283966798703E-5	0.01
18	8406103	C	T	18	8406105	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	3.34508056456558E-5	0.008
18	8406104	C	A	18	8406106	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.174861489647053	0.382
18	8406104	C	G	18	8406106	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	0.768360524168666	0.664
18	8406104	C	T	18	8406106	y	y	intronic	PTPRM	.	.	intronic	ENSG00000173482	.	.	9.96876707715286E-4	0.054
18	8406105	A	C	18	8406107	y	y	splicing	PTPRM(NM_002845:exon31:c.4306-2A>C;NM_001105244:exon33:c.4345-2A>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon31:c.4306-2A>C;ENST00000580170:exon33:c.4345-2A>C;ENST00000400060:exon33:c.4348-2A>C;ENST00000400053:exon31:c.4120-2A>C;ENST00000444013:exon27:c.3667-2A>C)	.	.	0.999988247793601	0.926
18	8406105	A	G	18	8406107	y	y	splicing	PTPRM(NM_002845:exon31:c.4306-2A>G;NM_001105244:exon33:c.4345-2A>G)	.	.	splicing	ENSG00000173482(ENST00000332175:exon31:c.4306-2A>G;ENST00000580170:exon33:c.4345-2A>G;ENST00000400060:exon33:c.4348-2A>G;ENST00000400053:exon31:c.4120-2A>G;ENST00000444013:exon27:c.3667-2A>G)	.	.	0.999988247793601	0.926
18	8406105	A	T	18	8406107	y	y	splicing	PTPRM(NM_002845:exon31:c.4306-2A>T;NM_001105244:exon33:c.4345-2A>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon31:c.4306-2A>T;ENST00000580170:exon33:c.4345-2A>T;ENST00000400060:exon33:c.4348-2A>T;ENST00000400053:exon31:c.4120-2A>T;ENST00000444013:exon27:c.3667-2A>T)	.	.	0.999988247793601	0.93
18	8406106	G	A	18	8406108	y	y	splicing	PTPRM(NM_002845:exon31:c.4306-1G>A;NM_001105244:exon33:c.4345-1G>A)	.	.	splicing	ENSG00000173482(ENST00000332175:exon31:c.4306-1G>A;ENST00000580170:exon33:c.4345-1G>A;ENST00000400060:exon33:c.4348-1G>A;ENST00000400053:exon31:c.4120-1G>A;ENST00000444013:exon27:c.3667-1G>A)	.	.	0.999990361384395	0.936
18	8406106	G	C	18	8406108	y	y	splicing	PTPRM(NM_002845:exon31:c.4306-1G>C;NM_001105244:exon33:c.4345-1G>C)	.	.	splicing	ENSG00000173482(ENST00000332175:exon31:c.4306-1G>C;ENST00000580170:exon33:c.4345-1G>C;ENST00000400060:exon33:c.4348-1G>C;ENST00000400053:exon31:c.4120-1G>C;ENST00000444013:exon27:c.3667-1G>C)	.	.	0.999990361384395	0.936
18	8406106	G	T	18	8406108	y	y	splicing	PTPRM(NM_002845:exon31:c.4306-1G>T;NM_001105244:exon33:c.4345-1G>T)	.	.	splicing	ENSG00000173482(ENST00000332175:exon31:c.4306-1G>T;ENST00000580170:exon33:c.4345-1G>T;ENST00000400060:exon33:c.4348-1G>T;ENST00000400053:exon31:c.4120-1G>T;ENST00000444013:exon27:c.3667-1G>T)	.	.	0.999990361384395	0.936
18	8406107	G	A	18	8406109	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon31:c.G4306A:p.D1436N;PTPRM:NM_001105244:exon33:c.G4345A:p.D1449N;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon31:c.G4306A:p.D1436N;ENSG00000173482:ENST00000580170:exon33:c.G4345A:p.D1449N;ENSG00000173482:ENST00000400060:exon33:c.G4348A:p.D1450N;ENSG00000173482:ENST00000444013:exon27:c.G3667A:p.D1223N;ENSG00000173482:ENST00000400053:exon31:c.G4120A:p.D1374N;	0.998462584641332	0.918
18	8406107	G	C	18	8406109	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon31:c.G4306C:p.D1436H;PTPRM:NM_001105244:exon33:c.G4345C:p.D1449H;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon31:c.G4306C:p.D1436H;ENSG00000173482:ENST00000580170:exon33:c.G4345C:p.D1449H;ENSG00000173482:ENST00000400060:exon33:c.G4348C:p.D1450H;ENSG00000173482:ENST00000444013:exon27:c.G3667C:p.D1223H;ENSG00000173482:ENST00000400053:exon31:c.G4120C:p.D1374H;	0.99945679059358	0.974
18	8406107	G	T	18	8406109	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon31:c.G4306T:p.D1436Y;PTPRM:NM_001105244:exon33:c.G4345T:p.D1449Y;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon31:c.G4306T:p.D1436Y;ENSG00000173482:ENST00000580170:exon33:c.G4345T:p.D1449Y;ENSG00000173482:ENST00000400060:exon33:c.G4348T:p.D1450Y;ENSG00000173482:ENST00000444013:exon27:c.G3667T:p.D1223Y;ENSG00000173482:ENST00000400053:exon31:c.G4120T:p.D1374Y;	0.999772244191696	0.988
18	8406108	A	C	18	8406110	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon31:c.A4307C:p.D1436A;PTPRM:NM_001105244:exon33:c.A4346C:p.D1449A;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon31:c.A4307C:p.D1436A;ENSG00000173482:ENST00000580170:exon33:c.A4346C:p.D1449A;ENSG00000173482:ENST00000400060:exon33:c.A4349C:p.D1450A;ENSG00000173482:ENST00000444013:exon27:c.A3668C:p.D1223A;ENSG00000173482:ENST00000400053:exon31:c.A4121C:p.D1374A;	0.947329795843385	0.812
18	8406108	A	G	18	8406110	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon31:c.A4307G:p.D1436G;PTPRM:NM_001105244:exon33:c.A4346G:p.D1449G;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon31:c.A4307G:p.D1436G;ENSG00000173482:ENST00000580170:exon33:c.A4346G:p.D1449G;ENSG00000173482:ENST00000400060:exon33:c.A4349G:p.D1450G;ENSG00000173482:ENST00000444013:exon27:c.A3668G:p.D1223G;ENSG00000173482:ENST00000400053:exon31:c.A4121G:p.D1374G;	0.914147643184612	0.766
18	8406108	A	T	18	8406110	y	y	exonic	PTPRM	nonsynonymous SNV	PTPRM:NM_002845:exon31:c.A4307T:p.D1436V;PTPRM:NM_001105244:exon33:c.A4346T:p.D1449V;	exonic	ENSG00000173482	nonsynonymous SNV	ENSG00000173482:ENST00000332175:exon31:c.A4307T:p.D1436V;ENSG00000173482:ENST00000580170:exon33:c.A4346T:p.D1449V;ENSG00000173482:ENST00000400060:exon33:c.A4349T:p.D1450V;ENSG00000173482:ENST00000444013:exon27:c.A3668T:p.D1223V;ENSG00000173482:ENST00000400053:exon31:c.A4121T:p.D1374V;	0.903157016034719	0.792
18	8609949	T	A	18	8609951	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon1:c.T224A:p.V75E;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.T224A:p.V75E;	0.479274104005105	0.578
18	8609949	T	C	18	8609951	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon1:c.T224C:p.V75A;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.T224C:p.V75A;	0.56552263952203	0.576
18	8609949	T	G	18	8609951	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon1:c.T224G:p.V75G;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.T224G:p.V75G;	0.536381901729256	0.624
18	8609950	G	A	18	8609952	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon1:c.G225A:p.V75V;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.G225A:p.V75V;	0.519119226016878	0.47
18	8609950	G	C	18	8609952	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon1:c.G225C:p.V75V;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.G225C:p.V75V;	0.695570058726346	0.686
18	8609950	G	T	18	8609952	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon1:c.G225T:p.V75V;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.G225T:p.V75V;	0.726361565478836	0.696
18	8609951	G	A	18	8609953	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon1:c.G226A:p.G76S;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.G226A:p.G76S;	0.999966655680076	0.998
18	8609951	G	C	18	8609953	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon1:c.G226C:p.G76R;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.G226C:p.G76R;	0.999992647506287	0.992
18	8609951	G	T	18	8609953	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon1:c.G226T:p.G76C;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon1:c.G226T:p.G76C;	0.999947067009776	1.0
18	8609952	G	A	18	8609954	y	y	splicing	RAB12(NM_001025300:exon1:c.226+1G>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon1:c.226+1G>A)	.	.	0.999993519952936	0.928
18	8609952	G	C	18	8609954	y	y	splicing	RAB12(NM_001025300:exon1:c.226+1G>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon1:c.226+1G>C)	.	.	0.999993519952936	0.928
18	8609952	G	T	18	8609954	y	y	splicing	RAB12(NM_001025300:exon1:c.226+1G>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon1:c.226+1G>T)	.	.	0.999993519952936	0.928
18	8609953	T	A	18	8609955	y	y	splicing	RAB12(NM_001025300:exon1:c.226+2T>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon1:c.226+2T>A)	.	.	0.999993672935256	0.93
18	8609953	T	C	18	8609955	y	y	splicing	RAB12(NM_001025300:exon1:c.226+2T>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon1:c.226+2T>C)	.	.	0.999937147559931	0.878
18	8609953	T	G	18	8609955	y	y	splicing	RAB12(NM_001025300:exon1:c.226+2T>G)	.	.	splicing	ENSG00000206418(ENST00000329286:exon1:c.226+2T>G)	.	.	0.999993672935256	0.93
18	8609954	A	C	18	8609956	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999538223133918	0.876
18	8609954	A	G	18	8609956	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0810211641963355	0.43
18	8609954	A	T	18	8609956	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999484712369845	0.87
18	8609955	A	C	18	8609957	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.985250384815844	0.772
18	8609955	A	G	18	8609957	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.99442564942596	0.862
18	8609955	A	T	18	8609957	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.985811770299352	0.782
18	8609956	G	A	18	8609958	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999823843352038	0.99
18	8609956	G	C	18	8609958	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999770739276612	0.924
18	8609956	G	T	18	8609958	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999873700518087	0.922
18	8609957	G	A	18	8609959	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0107796017313022	0.1
18	8609957	G	C	18	8609959	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0078395155355023	0.216
18	8609957	G	T	18	8609959	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00245389735128259	0.022
18	8609958	G	A	18	8609960	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.35067985853603E-4	0.11
18	8609958	G	C	18	8609960	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.55233273049438E-4	0.006
18	8609958	G	T	18	8609960	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.5978929803732E-4	0.034
18	8609959	C	A	18	8609961	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.55817924612592E-4	0.006
18	8609959	C	G	18	8609961	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	9.9394004239965E-5	0.0
18	8609959	C	T	18	8609961	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.13336214454959E-4	0.132
18	8624924	T	A	18	8624926	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0723190434882153	0.266
18	8624924	T	C	18	8624926	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.0335013587714E-5	0.036
18	8624924	T	G	18	8624926	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0311535436745035	0.258
18	8624925	T	A	18	8624927	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.993342129873283	0.764
18	8624925	T	C	18	8624927	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.929162978135038	0.458
18	8624925	T	G	18	8624927	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.988397270342175	0.68
18	8624926	T	A	18	8624928	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.99358099329176	0.788
18	8624926	T	C	18	8624928	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.279848128959946	0.418
18	8624926	T	G	18	8624928	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.98833196893365	0.75
18	8624927	T	A	18	8624929	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.186199764451566	0.364
18	8624927	T	C	18	8624929	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	8.88461036293221E-5	0.094
18	8624927	T	G	18	8624929	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.199749871775612	0.35
18	8624928	A	C	18	8624930	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.47157948647405E-5	0.0
18	8624928	A	G	18	8624930	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	4.49218586110481E-5	0.0
18	8624928	A	T	18	8624930	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.47157948647405E-5	0.0
18	8624929	T	A	18	8624931	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.120498423148124	0.28
18	8624929	T	C	18	8624931	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.58489082597167E-4	0.008
18	8624929	T	G	18	8624931	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999256096740578	0.948
18	8624930	T	A	18	8624932	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0307994848614722	0.256
18	8624930	T	C	18	8624932	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.23822043615195E-4	0.008
18	8624930	T	G	18	8624932	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.194327076487977	0.304
18	8624931	T	A	18	8624933	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.121455326680296	0.324
18	8624931	T	C	18	8624933	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.38608941443244E-4	0.02
18	8624931	T	G	18	8624933	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.144441263211236	0.324
18	8624932	A	C	18	8624934	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	9.44054549453019E-5	0.008
18	8624932	A	G	18	8624934	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	4.391954711897E-5	0.01
18	8624932	A	T	18	8624934	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	9.41750880841184E-5	0.016
18	8624933	C	A	18	8624935	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.930736296680506	0.664
18	8624933	C	G	18	8624935	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999858185452877	0.938
18	8624933	C	T	18	8624935	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.527378659559897	0.228
18	8624934	A	C	18	8624936	y	y	splicing	RAB12(NM_001025300:exon2:c.227-2A>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.227-2A>C)	.	.	0.999988247793601	0.932
18	8624934	A	G	18	8624936	y	y	splicing	RAB12(NM_001025300:exon2:c.227-2A>G)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.227-2A>G)	.	.	0.999988247793601	0.932
18	8624934	A	T	18	8624936	y	y	splicing	RAB12(NM_001025300:exon2:c.227-2A>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.227-2A>T)	.	.	0.999988247793601	0.932
18	8624935	G	A	18	8624937	y	y	splicing	RAB12(NM_001025300:exon2:c.227-1G>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.227-1G>A)	.	.	0.999989072007339	0.934
18	8624935	G	C	18	8624937	y	y	splicing	RAB12(NM_001025300:exon2:c.227-1G>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.227-1G>C)	.	.	0.999989072007339	0.934
18	8624935	G	T	18	8624937	y	y	splicing	RAB12(NM_001025300:exon2:c.227-1G>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.227-1G>T)	.	.	0.999989072007339	0.934
18	8624936	G	A	18	8624938	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.G227A:p.G76D;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.G227A:p.G76D;	0.999021479579476	0.894
18	8624936	G	C	18	8624938	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.G227C:p.G76A;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.G227C:p.G76A;	0.999534121686241	0.924
18	8624936	G	T	18	8624938	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.G227T:p.G76V;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.G227T:p.G76V;	0.999684832948432	0.96
18	8624937	T	A	18	8624939	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon2:c.T228A:p.G76G;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.T228A:p.G76G;	0.00696967667934997	0.04
18	8624937	T	C	18	8624939	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon2:c.T228C:p.G76G;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.T228C:p.G76G;	0.00696967667934997	0.034
18	8624937	T	G	18	8624939	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon2:c.T228G:p.G76G;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.T228G:p.G76G;	0.00775782877642729	0.032
18	8624994	C	A	18	8624996	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon2:c.C285A:p.I95I;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.C285A:p.I95I;	2.50194751287157E-4	0.03
18	8624994	C	G	18	8624996	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.C285G:p.I95M;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.C285G:p.I95M;	4.87335952843088E-5	0.028
18	8624994	C	T	18	8624996	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon2:c.C285T:p.I95I;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.C285T:p.I95I;	0.00191692799648237	0.058
18	8624995	T	A	18	8624997	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.T286A:p.W96R;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.T286A:p.W96R;	0.0216562578088411	0.36
18	8624995	T	C	18	8624997	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.T286C:p.W96R;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.T286C:p.W96R;	0.206102858029426	0.278
18	8624995	T	G	18	8624997	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.T286G:p.W96G;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.T286G:p.W96G;	0.151693778751488	0.258
18	8624996	G	A	18	8624998	y	y	exonic	RAB12	stopgain SNV	RAB12:NM_001025300:exon2:c.G287A:p.W96X;	exonic	ENSG00000206418	stopgain SNV	ENSG00000206418:ENST00000329286:exon2:c.G287A:p.W96X;	0.999905633123292	0.95
18	8624996	G	C	18	8624998	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.G287C:p.W96S;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.G287C:p.W96S;	0.99989697696384	0.964
18	8624996	G	T	18	8624998	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon2:c.G287T:p.W96L;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon2:c.G287T:p.W96L;	0.999943643667643	0.968
18	8624997	G	A	18	8624999	y	y	splicing	RAB12(NM_001025300:exon2:c.287+1G>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.287+1G>A)	.	.	0.999990361384395	0.938
18	8624997	G	C	18	8624999	y	y	splicing	RAB12(NM_001025300:exon2:c.287+1G>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.287+1G>C)	.	.	0.999990361384395	0.938
18	8624997	G	T	18	8624999	y	y	splicing	RAB12(NM_001025300:exon2:c.287+1G>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.287+1G>T)	.	.	0.999990361384395	0.938
18	8624998	T	A	18	8625000	y	y	splicing	RAB12(NM_001025300:exon2:c.287+2T>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.287+2T>A)	.	.	0.999988247793601	0.93
18	8624998	T	C	18	8625000	y	y	splicing	RAB12(NM_001025300:exon2:c.287+2T>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.287+2T>C)	.	.	0.99340600729494	0.674
18	8624998	T	G	18	8625000	y	y	splicing	RAB12(NM_001025300:exon2:c.287+2T>G)	.	.	splicing	ENSG00000206418(ENST00000329286:exon2:c.287+2T>G)	.	.	0.999988247793601	0.93
18	8624999	A	C	18	8625001	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.960979713548233	0.796
18	8624999	A	G	18	8625001	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00924697991840785	0.174
18	8624999	A	T	18	8625001	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.98436363873332	0.768
18	8625000	A	C	18	8625002	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.983830698788746	0.716
18	8625000	A	G	18	8625002	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.963910991553689	0.716
18	8625000	A	T	18	8625002	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.995177274645597	0.766
18	8625001	G	A	18	8625003	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999940869509102	0.938
18	8625001	G	C	18	8625003	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999780421565286	0.854
18	8625001	G	T	18	8625003	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999879787965626	0.918
18	8625002	T	A	18	8625004	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.889443862007897	0.618
18	8625002	T	C	18	8625004	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.815217925120474	0.598
18	8625002	T	G	18	8625004	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.6234052702887	0.412
18	8625003	G	A	18	8625005	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.89017817199473E-5	0.0
18	8625003	G	C	18	8625005	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.89017817199473E-5	0.0
18	8625003	G	T	18	8625005	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	6.44717118589366E-5	0.0
18	8625004	G	A	18	8625006	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.15545087707089E-4	0.012
18	8625004	G	C	18	8625006	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.88979480569603E-4	0.016
18	8625004	G	T	18	8625006	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.44897129707608E-4	0.014
18	8633175	G	A	18	8633177	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.301637206673625	0.422
18	8633175	G	C	18	8633177	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.522472968597706	0.552
18	8633175	G	T	18	8633177	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.294536526205564	0.494
18	8633176	C	A	18	8633178	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.943604884329053	0.652
18	8633176	C	G	18	8633178	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.920537173205763	0.658
18	8633176	C	T	18	8633178	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.947409330881739	0.68
18	8633177	T	A	18	8633179	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.434842676059454	0.432
18	8633177	T	C	18	8633179	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0023601844880605	0.098
18	8633177	T	G	18	8633179	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0622921230575101	0.354
18	8633178	T	A	18	8633180	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00108156670701904	0.136
18	8633178	T	C	18	8633180	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.49276880849697E-4	0.04
18	8633178	T	G	18	8633180	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00216299188355703	0.146
18	8633179	T	A	18	8633181	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0911828448030818	0.316
18	8633179	T	C	18	8633181	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0105113277723262	0.08
18	8633179	T	G	18	8633181	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0500843980389801	0.178
18	8633180	T	A	18	8633182	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0272134104024863	0.118
18	8633180	T	C	18	8633182	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.52408012251837E-4	0.022
18	8633180	T	G	18	8633182	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00174763941939384	0.078
18	8633181	T	A	18	8633183	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00411697752512331	0.05
18	8633181	T	C	18	8633183	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.83078276212352E-4	0.008
18	8633181	T	G	18	8633183	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00452158103911298	0.112
18	8633182	C	A	18	8633184	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.650849417443243	0.45
18	8633182	C	G	18	8633184	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.759837295116924	0.514
18	8633182	C	T	18	8633184	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.122255822510122	0.22
18	8633183	T	A	18	8633185	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	5.33306301831648E-4	0.008
18	8633183	T	C	18	8633185	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	9.08492516885862E-5	0.0
18	8633183	T	G	18	8633185	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.42928820538517E-4	0.014
18	8633184	T	A	18	8633186	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00603847479645176	0.278
18	8633184	T	C	18	8633186	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.68384901379684E-5	0.02
18	8633184	T	G	18	8633186	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.989674502525409	0.782
18	8633185	A	C	18	8633187	y	y	splicing	RAB12(NM_001025300:exon3:c.288-2A>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.288-2A>C)	.	.	0.999988247793601	0.93
18	8633185	A	G	18	8633187	y	y	splicing	RAB12(NM_001025300:exon3:c.288-2A>G)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.288-2A>G)	.	.	0.999988247793601	0.93
18	8633185	A	T	18	8633187	y	y	splicing	RAB12(NM_001025300:exon3:c.288-2A>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.288-2A>T)	.	.	0.999988247793601	0.93
18	8633186	G	A	18	8633188	y	y	splicing	RAB12(NM_001025300:exon3:c.288-1G>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.288-1G>A)	.	.	0.999990361384395	0.938
18	8633186	G	C	18	8633188	y	y	splicing	RAB12(NM_001025300:exon3:c.288-1G>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.288-1G>C)	.	.	0.999990361384395	0.938
18	8633186	G	T	18	8633188	y	y	splicing	RAB12(NM_001025300:exon3:c.288-1G>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.288-1G>T)	.	.	0.999990361384395	0.938
18	8633187	G	A	18	8633189	y	y	exonic	RAB12	stopgain SNV	RAB12:NM_001025300:exon3:c.G288A:p.W96X;	exonic	ENSG00000206418	stopgain SNV	ENSG00000206418:ENST00000329286:exon3:c.G288A:p.W96X;	0.999146184879897	0.968
18	8633187	G	C	18	8633189	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.G288C:p.W96C;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.G288C:p.W96C;	0.999908166823089	0.982
18	8633187	G	T	18	8633189	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.G288T:p.W96C;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.G288T:p.W96C;	0.99994016407735	0.978
18	8633188	G	A	18	8633190	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.G289A:p.D97N;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.G289A:p.D97N;	0.992455260007446	0.914
18	8633188	G	C	18	8633190	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.G289C:p.D97H;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.G289C:p.D97H;	0.986993555548857	0.836
18	8633188	G	T	18	8633190	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.G289T:p.D97Y;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.G289T:p.D97Y;	0.98100625610354	0.886
18	8633323	A	C	18	8633325	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.A424C:p.K142Q;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.A424C:p.K142Q;	0.112506232494193	0.408
18	8633323	A	G	18	8633325	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.A424G:p.K142E;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.A424G:p.K142E;	0.00108931458891667	0.108
18	8633323	A	T	18	8633325	y	y	exonic	RAB12	stopgain SNV	RAB12:NM_001025300:exon3:c.A424T:p.K142X;	exonic	ENSG00000206418	stopgain SNV	ENSG00000206418:ENST00000329286:exon3:c.A424T:p.K142X;	0.994936649384325	0.762
18	8633324	A	C	18	8633326	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.A425C:p.K142T;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.A425C:p.K142T;	0.993007587225553	0.88
18	8633324	A	G	18	8633326	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.A425G:p.K142R;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.A425G:p.K142R;	0.994076393507945	0.96
18	8633324	A	T	18	8633326	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.A425T:p.K142M;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.A425T:p.K142M;	0.999696265977914	0.99
18	8633325	G	A	18	8633327	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon3:c.G426A:p.K142K;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.G426A:p.K142K;	0.999738816212839	0.994
18	8633325	G	C	18	8633327	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.G426C:p.K142N;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.G426C:p.K142N;	0.999997653222451	0.99
18	8633325	G	T	18	8633327	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon3:c.G426T:p.K142N;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon3:c.G426T:p.K142N;	0.999972082031684	0.976
18	8633326	G	A	18	8633328	y	y	splicing	RAB12(NM_001025300:exon3:c.426+1G>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.426+1G>A)	.	.	0.999990361384395	0.936
18	8633326	G	C	18	8633328	y	y	splicing	RAB12(NM_001025300:exon3:c.426+1G>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.426+1G>C)	.	.	0.999990361384395	0.936
18	8633326	G	T	18	8633328	y	y	splicing	RAB12(NM_001025300:exon3:c.426+1G>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.426+1G>T)	.	.	0.999990361384395	0.936
18	8633327	T	A	18	8633329	y	y	splicing	RAB12(NM_001025300:exon3:c.426+2T>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.426+2T>A)	.	.	0.999988247793601	0.928
18	8633327	T	C	18	8633329	y	y	splicing	RAB12(NM_001025300:exon3:c.426+2T>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.426+2T>C)	.	.	0.99231226973403	0.702
18	8633327	T	G	18	8633329	y	y	splicing	RAB12(NM_001025300:exon3:c.426+2T>G)	.	.	splicing	ENSG00000206418(ENST00000329286:exon3:c.426+2T>G)	.	.	0.999988247793601	0.928
18	8633328	A	C	18	8633330	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.973829180562695	0.624
18	8633328	A	G	18	8633330	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0590672288261089	0.396
18	8633328	A	T	18	8633330	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.970357494167306	0.59
18	8633329	A	C	18	8633331	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0852330764788921	0.32
18	8633329	A	G	18	8633331	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0553903151359781	0.268
18	8633329	A	T	18	8633331	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0720408029171029	0.282
18	8633330	A	C	18	8633332	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.05176363761435E-4	0.02
18	8633330	A	G	18	8633332	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.17496959091179E-5	0.0
18	8633330	A	T	18	8633332	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.46488355784125E-4	0.006
18	8633331	T	A	18	8633333	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00178694170390566	0.042
18	8633331	T	C	18	8633333	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00252368888185217	0.066
18	8633331	T	G	18	8633333	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.46196554477539E-4	0.04
18	8633332	G	A	18	8633334	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.66672549778408E-5	0.0
18	8633332	G	C	18	8633334	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	4.42532840084784E-5	0.0
18	8633332	G	T	18	8633334	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	5.29348080665804E-5	0.0
18	8633333	T	A	18	8633335	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00174419859615901	0.014
18	8633333	T	C	18	8633335	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00130405360385066	0.014
18	8633333	T	G	18	8633335	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00147683351176973	0.014
18	8635519	A	C	18	8635521	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	2.94212921880434E-5	0.166
18	8635519	A	G	18	8635521	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	4.42078340662178E-5	0.078
18	8635519	A	T	18	8635521	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	7.38746686171227E-5	0.184
18	8635520	A	C	18	8635522	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	1.45610639810989E-5	0.162
18	8635520	A	G	18	8635522	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.997065272891184	0.896
18	8635520	A	T	18	8635522	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	6.23040852387503E-5	0.236
18	8635521	A	C	18	8635523	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	3.81135795663285E-6	0.094
18	8635521	A	G	18	8635523	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.990375066750684	0.888
18	8635521	A	T	18	8635523	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	3.74226119324811E-6	0.088
18	8635522	A	C	18	8635524	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	3.90174755564145E-5	0.116
18	8635522	A	G	18	8635524	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.998197406052563	0.92
18	8635522	A	T	18	8635524	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	4.15196364203775E-5	0.13
18	8635523	T	A	18	8635525	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.446504491723547	0.516
18	8635523	T	C	18	8635525	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.00560377982870984	0.226
18	8635523	T	G	18	8635525	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999216859156568	0.934
18	8635524	T	A	18	8635526	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.629715068313317	0.502
18	8635524	T	C	18	8635526	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	1.7800947329347E-4	0.088
18	8635524	T	G	18	8635526	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.643228960910582	0.5
18	8635525	C	A	18	8635527	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.99921630449565	0.846
18	8635525	C	G	18	8635527	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999257559585187	0.848
18	8635525	C	T	18	8635527	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.665627870683092	0.594
18	8635526	C	A	18	8635528	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.12841760918563	0.338
18	8635526	C	G	18	8635528	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.147397735604974	0.366
18	8635526	C	T	18	8635528	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.00289204014110515	0.25
18	8635527	A	C	18	8635529	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.76813704677991	0.576
18	8635527	A	G	18	8635529	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.738416581673656	0.612
18	8635527	A	T	18	8635529	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.938448963383911	0.728
18	8635528	C	A	18	8635530	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999952995267117	0.91
18	8635528	C	G	18	8635530	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999989055555846	0.94
18	8635528	C	T	18	8635530	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999276618008393	0.498
18	8635529	A	C	18	8635531	y	n	splicing	RAB12(NM_001025300:exon4:c.427-2A>C)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999758566334181	0.84
18	8635529	A	G	18	8635531	y	n	splicing	RAB12(NM_001025300:exon4:c.427-2A>G)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999758566334181	0.84
18	8635529	A	T	18	8635531	y	n	splicing	RAB12(NM_001025300:exon4:c.427-2A>T)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999758566334181	0.84
18	8635530	G	A	18	8635532	y	n	splicing	RAB12(NM_001025300:exon4:c.427-1G>A)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999980697831002	0.884
18	8635530	G	C	18	8635532	y	n	splicing	RAB12(NM_001025300:exon4:c.427-1G>C)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999980697831002	0.884
18	8635530	G	T	18	8635532	y	n	splicing	RAB12(NM_001025300:exon4:c.427-1G>T)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999980697831002	0.884
18	8635531	T	A	18	8635533	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.T427A:p.Y143N;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.T427A:p.Y143N;	0.769394461108971	0.76
18	8635531	T	C	18	8635533	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.T427C:p.Y143H;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.T427C:p.Y143H;	0.841365048240804	0.584
18	8635531	T	G	18	8635533	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.T427G:p.Y143D;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.T427G:p.Y143D;	0.843072042059291	0.644
18	8635532	A	C	18	8635534	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.A428C:p.Y143S;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.A428C:p.Y143S;	0.951646963336781	0.922
18	8635532	A	G	18	8635534	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.A428G:p.Y143C;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.A428G:p.Y143C;	0.926206687965276	0.796
18	8635532	A	T	18	8635534	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.A428T:p.Y143F;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.A428T:p.Y143F;	0.929365925172735	0.814
18	8635618	A	C	18	8635620	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.A514C:p.K172Q;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.A514C:p.K172Q;	0.809089239859076	0.642
18	8635618	A	G	18	8635620	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.A514G:p.K172E;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.A514G:p.K172E;	0.770899760672738	0.524
18	8635618	A	T	18	8635620	y	n	exonic	RAB12	stopgain SNV	RAB12:NM_001025300:exon4:c.A514T:p.K172X;	exonic	ENSG00000206418	stopgain SNV	ENSG00000206418:ENST00000329286:exon4:c.A514T:p.K172X;	0.996883107550406	0.784
18	8635619	A	C	18	8635621	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.A515C:p.K172T;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.A515C:p.K172T;	0.978939728661305	0.88
18	8635619	A	G	18	8635621	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.A515G:p.K172R;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.A515G:p.K172R;	0.999809971317922	0.978
18	8635619	A	T	18	8635621	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.A515T:p.K172M;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.A515T:p.K172M;	0.999589618715374	0.972
18	8635620	G	A	18	8635622	y	n	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon4:c.G516A:p.K172K;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.G516A:p.K172K;	0.999979988694614	0.994
18	8635620	G	C	18	8635622	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.G516C:p.K172N;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.G516C:p.K172N;	0.999995713005159	0.998
18	8635620	G	T	18	8635622	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon4:c.G516T:p.K172N;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon4:c.G516T:p.K172N;	0.999983964488074	0.986
18	8635621	G	A	18	8635623	y	n	splicing	RAB12(NM_001025300:exon4:c.516+1G>A)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999990361384395	0.936
18	8635621	G	C	18	8635623	y	n	splicing	RAB12(NM_001025300:exon4:c.516+1G>C)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999990361384395	0.936
18	8635621	G	T	18	8635623	y	n	splicing	RAB12(NM_001025300:exon4:c.516+1G>T)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999990361384395	0.936
18	8635622	T	A	18	8635624	y	n	splicing	RAB12(NM_001025300:exon4:c.516+2T>A)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999988247793601	0.93
18	8635622	T	C	18	8635624	y	n	splicing	RAB12(NM_001025300:exon4:c.516+2T>C)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999945827492243	0.864
18	8635622	T	G	18	8635624	y	n	splicing	RAB12(NM_001025300:exon4:c.516+2T>G)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999988247793601	0.93
18	8635623	G	A	18	8635625	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	3.54649718418108E-5	0.086
18	8635623	G	C	18	8635625	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.529818185634467	0.622
18	8635623	G	T	18	8635625	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.371831812685959	0.59
18	8635624	A	C	18	8635626	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.998677569870134	0.92
18	8635624	A	G	18	8635626	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999660724714399	0.9
18	8635624	A	T	18	8635626	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.998716323491711	0.778
18	8635625	G	A	18	8635627	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999648715969113	0.874
18	8635625	G	C	18	8635627	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999757804939501	0.864
18	8635625	G	T	18	8635627	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999729742123364	0.794
18	8635626	A	C	18	8635628	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	6.38373685221134E-4	0.062
18	8635626	A	G	18	8635628	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	8.31441464294548E-5	0.016
18	8635626	A	T	18	8635628	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	6.91773312981939E-5	0.03
18	8635627	G	A	18	8635629	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	2.49093250932004E-4	0.004
18	8635627	G	C	18	8635629	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	1.48225610950872E-4	0.0
18	8635627	G	T	18	8635629	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	2.13219551334066E-4	0.0
18	8635628	G	A	18	8635630	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	3.75621464494015E-5	0.0
18	8635628	G	C	18	8635630	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	5.24770264041839E-5	0.004
18	8635628	G	T	18	8635630	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	6.77812315063962E-5	0.0
18	8636239	G	A	18	8636241	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	2.95731721828816E-4	0.0
18	8636239	G	C	18	8636241	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	6.19232005904711E-5	0.0
18	8636239	G	T	18	8636241	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	3.73431640081321E-5	0.0
18	8636240	T	A	18	8636242	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.33992229013504	0.628
18	8636240	T	C	18	8636242	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.0751303201949106	0.298
18	8636240	T	G	18	8636242	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.557725120119631	0.536
18	8636241	T	A	18	8636243	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.0540650563771194	0.138
18	8636241	T	C	18	8636243	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	8.5740767907771E-5	0.012
18	8636241	T	G	18	8636243	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.00486443664007212	0.116
18	8636242	T	A	18	8636244	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.480201715834047	0.66
18	8636242	T	C	18	8636244	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	8.829582623025E-4	0.012
18	8636242	T	G	18	8636244	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.510982621814605	0.578
18	8636243	C	A	18	8636245	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.0026451741048002	0.04
18	8636243	C	G	18	8636245	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	1.13887342697985E-4	0.014
18	8636243	C	T	18	8636245	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	1.21307880046363E-4	0.002
18	8636244	T	A	18	8636246	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.0900355687188281	0.184
18	8636244	T	C	18	8636246	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	6.37644090106584E-5	0.02
18	8636244	T	G	18	8636246	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.0113714012602864	0.124
18	8636245	T	A	18	8636247	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.0155877537684467	0.348
18	8636245	T	C	18	8636247	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	1.36020059280751E-4	0.002
18	8636245	T	G	18	8636247	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.0164427291550265	0.336
18	8636246	C	A	18	8636248	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.00600433202917853	0.114
18	8636246	C	G	18	8636248	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.00774819004473496	0.1
18	8636246	C	T	18	8636248	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	6.6015784994903E-5	0.014
18	8636247	T	A	18	8636249	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	2.74656633872037E-4	0.054
18	8636247	T	C	18	8636249	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	5.92963720767011E-4	0.028
18	8636247	T	G	18	8636249	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	2.74656633872037E-4	0.042
18	8636248	C	A	18	8636250	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.175537356624617	0.41
18	8636248	C	G	18	8636250	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999687779435188	0.836
18	8636248	C	T	18	8636250	y	n	intronic	RAB12	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.00512330093228877	0.066
18	8636249	A	C	18	8636251	y	n	splicing	RAB12(NM_001025300:exon5:c.517-2A>C)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999988247793601	0.928
18	8636249	A	G	18	8636251	y	n	splicing	RAB12(NM_001025300:exon5:c.517-2A>G)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999988247793601	0.928
18	8636249	A	T	18	8636251	y	n	splicing	RAB12(NM_001025300:exon5:c.517-2A>T)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999988247793601	0.928
18	8636250	G	A	18	8636252	y	n	splicing	RAB12(NM_001025300:exon5:c.517-1G>A)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999985532734767	0.934
18	8636250	G	C	18	8636252	y	n	splicing	RAB12(NM_001025300:exon5:c.517-1G>C)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999985532734767	0.934
18	8636250	G	T	18	8636252	y	n	splicing	RAB12(NM_001025300:exon5:c.517-1G>T)	.	.	ncRNA_exonic	ENSG00000266708	.	.	0.999985532734767	0.934
18	8636251	T	A	18	8636253	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.T517A:p.F173I;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.T517A:p.F173I;	0.569223437668226	0.746
18	8636251	T	C	18	8636253	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.T517C:p.F173L;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.T517C:p.F173L;	0.759770827210041	0.738
18	8636251	T	G	18	8636253	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.T517G:p.F173V;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.T517G:p.F173V;	0.65042255337121	0.644
18	8636252	T	A	18	8636254	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.T518A:p.F173Y;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.T518A:p.F173Y;	0.722464464146326	0.602
18	8636252	T	C	18	8636254	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.T518C:p.F173S;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.T518C:p.F173S;	0.263348695558997	0.56
18	8636252	T	G	18	8636254	y	n	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.T518G:p.F173C;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.T518G:p.F173C;	0.598186576265039	0.562
18	8636353	A	C	18	8636355	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.A619C:p.K207Q;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.A619C:p.K207Q;	0.662510497301105	0.56
18	8636353	A	G	18	8636355	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.A619G:p.K207E;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.A619G:p.K207E;	0.45712097579036	0.506
18	8636353	A	T	18	8636355	y	y	exonic	RAB12	stopgain SNV	RAB12:NM_001025300:exon5:c.A619T:p.K207X;	exonic	ENSG00000206418	stopgain SNV	ENSG00000206418:ENST00000329286:exon5:c.A619T:p.K207X;	0.997923895362395	0.834
18	8636354	A	C	18	8636356	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.A620C:p.K207T;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.A620C:p.K207T;	0.998083148575079	0.974
18	8636354	A	G	18	8636356	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.A620G:p.K207R;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.A620G:p.K207R;	0.999685536108406	0.962
18	8636354	A	T	18	8636356	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.A620T:p.K207M;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.A620T:p.K207M;	0.999672501763302	0.992
18	8636355	G	A	18	8636357	y	y	exonic	RAB12	synonymous SNV	RAB12:NM_001025300:exon5:c.G621A:p.K207K;	exonic	ENSG00000206418	synonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.G621A:p.K207K;	0.999993198721989	1.0
18	8636355	G	C	18	8636357	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.G621C:p.K207N;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.G621C:p.K207N;	0.999997610789446	1.0
18	8636355	G	T	18	8636357	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon5:c.G621T:p.K207N;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon5:c.G621T:p.K207N;	0.999993018555097	0.998
18	8636356	G	A	18	8636358	y	y	splicing	RAB12(NM_001025300:exon5:c.621+1G>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon5:c.621+1G>A)	.	.	0.999990361384395	0.938
18	8636356	G	C	18	8636358	y	y	splicing	RAB12(NM_001025300:exon5:c.621+1G>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon5:c.621+1G>C)	.	.	0.999990361384395	0.938
18	8636356	G	T	18	8636358	y	y	splicing	RAB12(NM_001025300:exon5:c.621+1G>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon5:c.621+1G>T)	.	.	0.999990361384395	0.938
18	8636357	T	A	18	8636359	y	y	splicing	RAB12(NM_001025300:exon5:c.621+2T>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon5:c.621+2T>A)	.	.	0.999988247793601	0.93
18	8636357	T	C	18	8636359	y	y	splicing	RAB12(NM_001025300:exon5:c.621+2T>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon5:c.621+2T>C)	.	.	0.992577803696025	0.684
18	8636357	T	G	18	8636359	y	y	splicing	RAB12(NM_001025300:exon5:c.621+2T>G)	.	.	splicing	ENSG00000206418(ENST00000329286:exon5:c.621+2T>G)	.	.	0.999988247793601	0.93
18	8636358	A	C	18	8636360	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999954477396944	0.96
18	8636358	A	G	18	8636360	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.997460750995622	0.872
18	8636358	A	T	18	8636360	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999893561337181	0.96
18	8636359	A	C	18	8636361	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.995675130599753	0.804
18	8636359	A	G	18	8636361	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.992195473533614	0.766
18	8636359	A	T	18	8636361	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.99707786385439	0.86
18	8636360	A	C	18	8636362	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.73615289036165E-4	0.04
18	8636360	A	G	18	8636362	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	4.54815100490928E-5	0.012
18	8636360	A	T	18	8636362	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	9.44760883113921E-5	0.018
18	8636361	A	C	18	8636363	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.103695832672285	0.154
18	8636361	A	G	18	8636363	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00513953956798591	0.112
18	8636361	A	T	18	8636363	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00546823894963376	0.096
18	8636362	A	C	18	8636364	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.02350694987638E-4	0.034
18	8636362	A	G	18	8636364	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.16284425829215E-4	0.086
18	8636362	A	T	18	8636364	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	4.1275968625058E-4	0.224
18	8636363	A	C	18	8636365	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.2886448328189E-5	0.0
18	8636363	A	G	18	8636365	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.32014512061397E-5	0.0
18	8636363	A	T	18	8636365	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	6.03453809870845E-5	0.0
18	8638135	T	A	18	8638137	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.257410046058503	0.528
18	8638135	T	C	18	8638137	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.02009879522129E-4	0.028
18	8638135	T	G	18	8638137	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.21546370795192	0.51
18	8638136	T	A	18	8638138	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.152026372799969	0.5
18	8638136	T	C	18	8638138	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.0240681399154974	0.298
18	8638136	T	G	18	8638138	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.063324429999782	0.526
18	8638137	T	A	18	8638139	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.962455941657029	0.714
18	8638137	T	C	18	8638139	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00608777632197718	0.25
18	8638137	T	G	18	8638139	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.966003627114144	0.794
18	8638138	A	C	18	8638140	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	6.80232452370968E-5	0.046
18	8638138	A	G	18	8638140	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.21128162762802E-4	0.06
18	8638138	A	T	18	8638140	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.23632300382102E-4	0.076
18	8638139	T	A	18	8638141	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.00392365458758851	0.138
18	8638139	T	C	18	8638141	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	8.02214611382831E-5	0.0
18	8638139	T	G	18	8638141	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999583217626621	0.952
18	8638140	A	C	18	8638142	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	5.757938084745E-5	0.008
18	8638140	A	G	18	8638142	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	8.04992660890054E-5	0.0
18	8638140	A	T	18	8638142	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.61517714356175E-5	0.0
18	8638141	C	A	18	8638143	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999786453278371	0.722
18	8638141	C	G	18	8638143	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.999802813675278	0.708
18	8638141	C	T	18	8638143	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	4.6379507470655E-5	0.08
18	8638142	G	A	18	8638144	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.30007110163857E-5	0.0
18	8638142	G	C	18	8638144	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.09783703352132E-5	0.002
18	8638142	G	T	18	8638144	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.54581461762292E-5	0.028
18	8638143	T	A	18	8638145	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	3.07271918708348E-5	0.11
18	8638143	T	C	18	8638145	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	7.21066097998872E-5	0.148
18	8638143	T	G	18	8638145	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	1.13618643768825E-4	0.076
18	8638144	T	A	18	8638146	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.369033672821468	0.418
18	8638144	T	C	18	8638146	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	2.25388239327004E-4	0.046
18	8638144	T	G	18	8638146	y	y	intronic	RAB12	.	.	intronic	ENSG00000206418	.	.	0.818780177558068	0.624
18	8638145	A	C	18	8638147	y	y	splicing	RAB12(NM_001025300:exon6:c.622-2A>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon6:c.622-2A>C)	.	.	0.999986741007567	0.946
18	8638145	A	G	18	8638147	y	y	splicing	RAB12(NM_001025300:exon6:c.622-2A>G)	.	.	splicing	ENSG00000206418(ENST00000329286:exon6:c.622-2A>G)	.	.	0.999986741007567	0.946
18	8638145	A	T	18	8638147	y	y	splicing	RAB12(NM_001025300:exon6:c.622-2A>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon6:c.622-2A>T)	.	.	0.999986741007567	0.946
18	8638146	G	A	18	8638148	y	y	splicing	RAB12(NM_001025300:exon6:c.622-1G>A)	.	.	splicing	ENSG00000206418(ENST00000329286:exon6:c.622-1G>A)	.	.	0.999989125585301	0.944
18	8638146	G	C	18	8638148	y	y	splicing	RAB12(NM_001025300:exon6:c.622-1G>C)	.	.	splicing	ENSG00000206418(ENST00000329286:exon6:c.622-1G>C)	.	.	0.999989125585301	0.944
18	8638146	G	T	18	8638148	y	y	splicing	RAB12(NM_001025300:exon6:c.622-1G>T)	.	.	splicing	ENSG00000206418(ENST00000329286:exon6:c.622-1G>T)	.	.	0.999989125585301	0.944
18	8638147	A	C	18	8638149	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon6:c.A622C:p.M208L;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon6:c.A622C:p.M208L;	0.981815762512663	0.668
18	8638147	A	G	18	8638149	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon6:c.A622G:p.M208V;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon6:c.A622G:p.M208V;	0.00252462767839257	0.054
18	8638147	A	T	18	8638149	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon6:c.A622T:p.M208L;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon6:c.A622T:p.M208L;	0.911031658639882	0.606
18	8638148	T	A	18	8638150	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon6:c.T623A:p.M208K;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon6:c.T623A:p.M208K;	0.922012073247446	0.588
18	8638148	T	C	18	8638150	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon6:c.T623C:p.M208T;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon6:c.T623C:p.M208T;	0.285934772785052	0.376
18	8638148	T	G	18	8638150	y	y	exonic	RAB12	nonsynonymous SNV	RAB12:NM_001025300:exon6:c.T623G:p.M208R;	exonic	ENSG00000206418	nonsynonymous SNV	ENSG00000206418:ENST00000329286:exon6:c.T623G:p.M208R;	0.92300824222784	0.608
18	8717422	A	C	18	8717424	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.00138955075908E-4	0.004
18	8717422	A	G	18	8717424	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.00267260059984685	0.048
18	8717422	A	T	18	8717424	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.4047375191286	0.386
18	8717423	A	C	18	8717425	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.25859020103541	0.638
18	8717423	A	G	18	8717425	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.977858675227106	0.622
18	8717423	A	T	18	8717425	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.923130337823285	0.534
18	8717424	G	A	18	8717426	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.999990911434975	0.984
18	8717424	G	C	18	8717426	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.999968646131758	0.93
18	8717424	G	T	18	8717426	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.999987517138171	0.984
18	8717425	G	A	18	8717427	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.99986575855458	0.534
18	8717425	G	C	18	8717427	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.99986575855458	0.524
18	8717425	G	T	18	8717427	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.99986575855458	0.528
18	8717426	T	A	18	8717428	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.99986575855458	0.536
18	8717426	T	C	18	8717428	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.99783939855835	0.578
18	8717426	T	G	18	8717428	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.99986575855458	0.534
18	8717427	G	A	18	8717429	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.66634164734672E-5	0.022
18	8717427	G	C	18	8717429	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0680935646473024	0.382
18	8717427	G	T	18	8717429	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00230394530556564	0.252
18	8717428	C	A	18	8717430	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.84504597814415E-5	0.08
18	8717428	C	G	18	8717430	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.35655705324536E-5	0.014
18	8717428	C	T	18	8717430	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00466582301716697	0.08
18	8717429	G	A	18	8717431	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999127942590886	0.704
18	8717429	G	C	18	8717431	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.998283716741637	0.708
18	8717429	G	T	18	8717431	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999522506863456	0.698
18	8717430	A	C	18	8717432	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.49256641637167E-4	0.03
18	8717430	A	G	18	8717432	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.72231775512775E-5	0.0
18	8717430	A	T	18	8717432	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.58866249594173E-5	0.016
18	8717431	G	A	18	8717433	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.32143045733858E-5	0.002
18	8717431	G	C	18	8717433	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.32143045733858E-5	0.0
18	8717431	G	T	18	8717433	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.77434681487977E-5	0.0
18	8717432	C	A	18	8717434	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.16519864486066E-5	0.004
18	8717432	C	G	18	8717434	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.05794367815171E-5	0.0
18	8717432	C	T	18	8717434	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.16519864486066E-5	0.002
18	8717890	A	C	18	8717892	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	3.65786058803367E-5	0.008
18	8717890	A	G	18	8717892	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.37733157109522E-4	0.056
18	8717890	A	T	18	8717892	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.18111155158112E-4	0.134
18	8717891	T	A	18	8717893	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.338396976841229	0.586
18	8717891	T	C	18	8717893	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.00186356379574121	0.122
18	8717891	T	G	18	8717893	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.999362569498193	0.946
18	8717892	T	A	18	8717894	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.0464719827798916	0.482
18	8717892	T	C	18	8717894	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.826371061584E-4	0.086
18	8717892	T	G	18	8717894	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.00264752361866743	0.418
18	8717893	T	A	18	8717895	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.999799348150942	0.938
18	8717893	T	C	18	8717895	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.29052302458591E-4	0.04
18	8717893	T	G	18	8717895	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.0209709781012243	0.376
18	8717894	G	A	18	8717896	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	4.4353101039352E-5	0.002
18	8717894	G	C	18	8717896	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.65047354028333E-5	0.0
18	8717894	G	T	18	8717896	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.55908716824608E-5	0.024
18	8717895	T	A	18	8717897	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.999478964491326	0.982
18	8717895	T	C	18	8717897	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	6.27514882335752E-5	0.02
18	8717895	T	G	18	8717897	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.00802944110342488	0.172
18	8717896	G	A	18	8717898	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.859422012046531	0.868
18	8717896	G	C	18	8717898	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	2.36475164215061E-5	0.032
18	8717896	G	T	18	8717898	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.58645906776164E-5	0.004
18	8717897	G	A	18	8717899	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	3.21447207973814E-4	0.028
18	8717897	G	C	18	8717899	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	2.6348011780795E-4	0.042
18	8717897	G	T	18	8717899	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	3.68854250381886E-4	0.11
18	8717898	A	C	18	8717900	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.76336933505604E-5	0.002
18	8717898	A	G	18	8717900	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	5.33619174926917E-5	0.006
18	8717898	A	T	18	8717900	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	4.63956337312769E-5	0.012
18	8717899	T	A	18	8717901	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.00282586618339295	0.222
18	8717899	T	C	18	8717901	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	5.63894064302674E-5	0.01
18	8717899	T	G	18	8717901	y	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.089623588858645	0.452
18	8717900	A	C	18	8717902	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.95600288505389	0.328
18	8717900	A	G	18	8717902	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.95600288505389	0.328
18	8717900	A	T	18	8717902	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.95600288505389	0.328
18	8717901	G	A	18	8717903	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.999625534019399	0.606
18	8717901	G	C	18	8717903	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.999625534019399	0.526
18	8717901	G	T	18	8717903	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.999625534019399	0.596
18	8717902	C	A	18	8717904	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	2.22689791009463E-5	0.0
18	8717902	C	G	18	8717904	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	7.11114447462212E-5	0.072
18	8717902	C	T	18	8717904	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	2.52591503527592E-5	0.042
18	8717903	G	A	18	8717905	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.18371861759298E-4	0.042
18	8717903	G	C	18	8717905	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	7.64934354567481E-5	0.028
18	8717903	G	T	18	8717905	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	8.25684003649994E-5	0.026
18	8717958	C	A	18	8717960	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.11008706023495E-4	0.034
18	8717958	C	G	18	8717960	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.14403815724328E-4	0.008
18	8717958	C	T	18	8717960	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.0195720111739598	0.334
18	8717959	A	C	18	8717961	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.0627066763691201	0.48
18	8717959	A	G	18	8717961	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.195723758701416	0.544
18	8717959	A	T	18	8717961	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.327493173748048	0.676
18	8717960	G	A	18	8717962	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.927784375293765	0.614
18	8717960	G	C	18	8717962	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.984926819316427	0.716
18	8717960	G	T	18	8717962	y	y	UTR5	MTCL1	.	.	UTR5	ENSG00000168502	.	.	0.998453326911058	0.824
18	8717961	G	A	18	8717963	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.999668022189743	0.634
18	8717961	G	C	18	8717963	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.999668022189743	0.638
18	8717961	G	T	18	8717963	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.999668022189743	0.638
18	8717962	T	A	18	8717964	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.995276313536447	0.34
18	8717962	T	C	18	8717964	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.338365285301114	0.468
18	8717962	T	G	18	8717964	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502	.	.	0.995276313536447	0.334
18	8717963	A	C	18	8717965	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.758932863089915	0.448
18	8717963	A	G	18	8717965	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.057340746078762	0.47
18	8717963	A	T	18	8717965	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.594550257169334	0.464
18	8717964	T	A	18	8717966	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.69061405120638E-5	0.082
18	8717964	T	C	18	8717966	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.79602218907784E-5	0.014
18	8717964	T	G	18	8717966	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.11538652475853E-5	0.0
18	8717965	G	A	18	8717967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.169696365292173	0.318
18	8717965	G	C	18	8717967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.237056154216508	0.39
18	8717965	G	T	18	8717967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.102550560109194	0.276
18	8717966	T	A	18	8717968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.11443602828392E-4	0.172
18	8717966	T	C	18	8717968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00638460785236162	0.278
18	8717966	T	G	18	8717968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.01253865359201E-4	0.14
18	8717967	T	A	18	8717969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.21888546289696E-5	0.002
18	8717967	T	C	18	8717969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.21888546289696E-5	0.002
18	8717967	T	G	18	8717969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.2389958934324E-6	0.002
18	8717968	T	A	18	8717970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.44231920006591E-5	0.006
18	8717968	T	C	18	8717970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.44231920006591E-5	0.01
18	8717968	T	G	18	8717970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.08012468077188E-5	0.006
18	8718410	T	A	18	8718412	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99997284461723	0.978
18	8718410	T	C	18	8718412	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00951545314318352	0.14
18	8718410	T	G	18	8718412	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.926264142306843	0.79
18	8718411	G	A	18	8718413	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0239058982152161	0.106
18	8718411	G	C	18	8718413	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.66267399344492E-4	0.05
18	8718411	G	T	18	8718413	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00130260413291256	0.084
18	8718412	A	C	18	8718414	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.95339444519528E-5	0.026
18	8718412	A	G	18	8718414	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.06343497836287E-5	0.026
18	8718412	A	T	18	8718414	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.74034633845163E-5	0.03
18	8718413	T	A	18	8718415	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.481375705575419	0.482
18	8718413	T	C	18	8718415	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00171009551260694	0.092
18	8718413	T	G	18	8718415	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999962792670639	0.94
18	8718414	T	A	18	8718416	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.240491046508416	0.386
18	8718414	T	C	18	8718416	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.69107457353377E-4	0.076
18	8718414	T	G	18	8718416	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0321931728567142	0.324
18	8718415	T	A	18	8718417	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999929278306338	0.972
18	8718415	T	C	18	8718417	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00193383656615641	0.134
18	8718415	T	G	18	8718417	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.626315104386334	0.468
18	8718416	G	A	18	8718418	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.4363805304999E-4	0.006
18	8718416	G	C	18	8718418	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.39262665848503E-4	0.026
18	8718416	G	T	18	8718418	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.55995855451472E-5	0.04
18	8718417	C	A	18	8718419	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00771937744940804	0.188
18	8718417	C	G	18	8718419	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0086663943482218	0.11
18	8718417	C	T	18	8718419	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.76621342273667E-4	0.04
18	8718418	A	C	18	8718420	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.46679037378612E-5	0.138
18	8718418	A	G	18	8718420	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.69132744650467E-4	0.216
18	8718418	A	T	18	8718420	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.46661736621033E-4	0.02
18	8718419	T	A	18	8718421	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0287258305075205	0.416
18	8718419	T	C	18	8718421	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.44213719088093E-4	0.136
18	8718419	T	G	18	8718421	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.986169206553696	0.714
18	8718420	A	C	18	8718422	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1054-2A>C)	.	.	0.999988624979899	0.938
18	8718420	A	G	18	8718422	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1054-2A>G)	.	.	0.999988624979899	0.938
18	8718420	A	T	18	8718422	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1054-2A>T)	.	.	0.999988624979899	0.938
18	8718421	G	A	18	8718423	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1054-1G>A)	.	.	0.999984967332678	0.946
18	8718421	G	C	18	8718423	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1054-1G>C)	.	.	0.999984967332678	0.946
18	8718421	G	T	18	8718423	y	y	splicing	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1054-1G>T)	.	.	0.999984967332678	0.946
18	8718422	G	A	18	8718424	y	y	UTR5	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.G1054A:p.D352N;	0.999025109405878	0.914
18	8718422	G	C	18	8718424	y	y	UTR5	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.G1054C:p.D352H;	0.99328706838784	0.928
18	8718422	G	T	18	8718424	y	y	UTR5	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.G1054T:p.D352Y;	0.997131781284414	0.95
18	8718423	A	C	18	8718425	y	y	UTR5	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.A1055C:p.D352A;	0.0439539900029705	0.416
18	8718423	A	G	18	8718425	y	y	UTR5	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.A1055G:p.D352G;	0.106050668583726	0.43
18	8718423	A	T	18	8718425	y	y	UTR5	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.A1055T:p.D352V;	0.0164251326486778	0.36
18	8718644	A	C	18	8718646	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon3:c.A196C:p.K66Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.A1276C:p.K426Q;ENSG00000168502:ENST00000517570:exon2:c.A196C:p.K66Q;ENSG00000168502:ENST00000400050:exon3:c.A196C:p.K66Q;ENSG00000168502:ENST00000359865:exon3:c.A196C:p.K66Q;	0.615017733194658	0.6
18	8718644	A	G	18	8718646	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon3:c.A196G:p.K66E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.A1276G:p.K426E;ENSG00000168502:ENST00000517570:exon2:c.A196G:p.K66E;ENSG00000168502:ENST00000400050:exon3:c.A196G:p.K66E;ENSG00000168502:ENST00000359865:exon3:c.A196G:p.K66E;	0.126914497201299	0.324
18	8718644	A	T	18	8718646	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon3:c.A196T:p.K66X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000306329:exon2:c.A1276T:p.K426X;ENSG00000168502:ENST00000517570:exon2:c.A196T:p.K66X;ENSG00000168502:ENST00000400050:exon3:c.A196T:p.K66X;ENSG00000168502:ENST00000359865:exon3:c.A196T:p.K66X;	0.903266311623118	0.62
18	8718645	A	C	18	8718647	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon3:c.A197C:p.K66T;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.A1277C:p.K426T;ENSG00000168502:ENST00000517570:exon2:c.A197C:p.K66T;ENSG00000168502:ENST00000400050:exon3:c.A197C:p.K66T;ENSG00000168502:ENST00000359865:exon3:c.A197C:p.K66T;	0.990375049915033	0.812
18	8718645	A	G	18	8718647	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon3:c.A197G:p.K66R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.A1277G:p.K426R;ENSG00000168502:ENST00000517570:exon2:c.A197G:p.K66R;ENSG00000168502:ENST00000400050:exon3:c.A197G:p.K66R;ENSG00000168502:ENST00000359865:exon3:c.A197G:p.K66R;	0.990365028239468	0.88
18	8718645	A	T	18	8718647	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon3:c.A197T:p.K66M;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.A1277T:p.K426M;ENSG00000168502:ENST00000517570:exon2:c.A197T:p.K66M;ENSG00000168502:ENST00000400050:exon3:c.A197T:p.K66M;ENSG00000168502:ENST00000359865:exon3:c.A197T:p.K66M;	0.989244250264277	0.528
18	8718646	G	A	18	8718648	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon3:c.G198A:p.K66K;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.G1278A:p.K426K;ENSG00000168502:ENST00000517570:exon2:c.G198A:p.K66K;ENSG00000168502:ENST00000400050:exon3:c.G198A:p.K66K;ENSG00000168502:ENST00000359865:exon3:c.G198A:p.K66K;	0.999820359311516	0.942
18	8718646	G	C	18	8718648	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon3:c.G198C:p.K66N;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.G1278C:p.K426N;ENSG00000168502:ENST00000517570:exon2:c.G198C:p.K66N;ENSG00000168502:ENST00000400050:exon3:c.G198C:p.K66N;ENSG00000168502:ENST00000359865:exon3:c.G198C:p.K66N;	0.999890834830537	0.978
18	8718646	G	T	18	8718648	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon3:c.G198T:p.K66N;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon2:c.G1278T:p.K426N;ENSG00000168502:ENST00000517570:exon2:c.G198T:p.K66N;ENSG00000168502:ENST00000400050:exon3:c.G198T:p.K66N;ENSG00000168502:ENST00000359865:exon3:c.G198T:p.K66N;	0.999884041186051	0.976
18	8718647	G	A	18	8718649	y	y	splicing	MTCL1(NM_015210:exon3:c.198+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1278+1G>A;ENST00000517570:exon2:c.198+1G>A;ENST00000400050:exon3:c.198+1G>A;ENST00000359865:exon3:c.198+1G>A)	.	.	0.999988247793601	0.926
18	8718647	G	C	18	8718649	y	y	splicing	MTCL1(NM_015210:exon3:c.198+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1278+1G>C;ENST00000517570:exon2:c.198+1G>C;ENST00000400050:exon3:c.198+1G>C;ENST00000359865:exon3:c.198+1G>C)	.	.	0.999988247793601	0.926
18	8718647	G	T	18	8718649	y	y	splicing	MTCL1(NM_015210:exon3:c.198+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1278+1G>T;ENST00000517570:exon2:c.198+1G>T;ENST00000400050:exon3:c.198+1G>T;ENST00000359865:exon3:c.198+1G>T)	.	.	0.999988247793601	0.926
18	8718648	T	A	18	8718650	y	y	splicing	MTCL1(NM_015210:exon3:c.198+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1278+2T>A;ENST00000517570:exon2:c.198+2T>A;ENST00000400050:exon3:c.198+2T>A;ENST00000359865:exon3:c.198+2T>A)	.	.	0.999993519952936	0.93
18	8718648	T	C	18	8718650	y	y	splicing	MTCL1(NM_015210:exon3:c.198+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1278+2T>C;ENST00000517570:exon2:c.198+2T>C;ENST00000400050:exon3:c.198+2T>C;ENST00000359865:exon3:c.198+2T>C)	.	.	0.999958563240378	0.854
18	8718648	T	G	18	8718650	y	y	splicing	MTCL1(NM_015210:exon3:c.198+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon2:c.1278+2T>G;ENST00000517570:exon2:c.198+2T>G;ENST00000400050:exon3:c.198+2T>G;ENST00000359865:exon3:c.198+2T>G)	.	.	0.999993519952936	0.928
18	8718649	G	A	18	8718651	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.04114092427537E-4	0.036
18	8718649	G	C	18	8718651	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0832896999333522	0.286
18	8718649	G	T	18	8718651	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0335618445603967	0.232
18	8718650	A	C	18	8718652	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.136719117714042	0.264
18	8718650	A	G	18	8718652	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.769739892826162	0.48
18	8718650	A	T	18	8718652	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.752294233487324	0.3
18	8718651	G	A	18	8718653	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.994711497088961	0.846
18	8718651	G	C	18	8718653	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.976555626503789	0.782
18	8718651	G	T	18	8718653	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.990811073439998	0.84
18	8718652	T	A	18	8718654	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00277688319742363	0.234
18	8718652	T	C	18	8718654	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0021890916054543	0.122
18	8718652	T	G	18	8718654	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00273177539248225	0.15
18	8718653	G	A	18	8718655	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.90576497539613E-4	0.0
18	8718653	G	C	18	8718655	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.29041214402365E-4	0.0
18	8718653	G	T	18	8718655	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.68944638809914E-4	0.006
18	8718654	A	C	18	8718656	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.06727839499636E-4	0.008
18	8718654	A	G	18	8718656	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.54260550762529E-4	0.008
18	8718654	A	T	18	8718656	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.46644997909639E-4	0.008
18	8720324	G	A	18	8720326	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.996072241752088	0.96
18	8720324	G	C	18	8720326	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.99053222787045E-5	0.012
18	8720324	G	T	18	8720326	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.99053222787045E-5	0.062
18	8720325	G	A	18	8720327	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999591244571097	0.954
18	8720325	G	C	18	8720327	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0059375380230698	0.174
18	8720325	G	T	18	8720327	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00647543243499401	0.19
18	8720326	G	A	18	8720328	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00133045506544418	0.014
18	8720326	G	C	18	8720328	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.05253631574088E-5	0.034
18	8720326	G	T	18	8720328	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.37041637387315E-4	0.04
18	8720327	T	A	18	8720329	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.980872727530655	0.776
18	8720327	T	C	18	8720329	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.79767768015118E-4	0.14
18	8720327	T	G	18	8720329	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.933230807361902	0.632
18	8720328	C	A	18	8720330	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99996252102531	0.972
18	8720328	C	G	18	8720330	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00148180186442128	0.156
18	8720328	C	T	18	8720330	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.29783651534706E-5	0.004
18	8720329	G	A	18	8720331	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.02968976715071E-4	0.034
18	8720329	G	C	18	8720331	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.56410944320175E-5	0.0
18	8720329	G	T	18	8720331	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.56410944320175E-5	0.0
18	8720330	A	C	18	8720332	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.29134189629434E-5	0.094
18	8720330	A	G	18	8720332	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.01278144524083E-4	0.09
18	8720330	A	T	18	8720332	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.83427967545787E-5	0.086
18	8720331	T	A	18	8720333	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99829523381301	0.94
18	8720331	T	C	18	8720333	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00973535585073815	0.154
18	8720331	T	G	18	8720333	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999897192207903	0.968
18	8720332	G	A	18	8720334	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.1500230247004E-4	0.146
18	8720332	G	C	18	8720334	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.99013185123885E-5	0.008
18	8720332	G	T	18	8720334	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.89783601215624E-5	0.142
18	8720333	C	A	18	8720335	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999227794453779	0.922
18	8720333	C	G	18	8720335	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999977696497632	0.972
18	8720333	C	T	18	8720335	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.974057051238202	0.564
18	8720334	A	C	18	8720336	y	y	splicing	MTCL1(NM_015210:exon4:c.199-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1279-2A>C;ENST00000517570:exon3:c.199-2A>C;ENST00000400050:exon4:c.199-2A>C;ENST00000359865:exon4:c.199-2A>C)	.	.	0.999988624979899	0.934
18	8720334	A	G	18	8720336	y	y	splicing	MTCL1(NM_015210:exon4:c.199-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1279-2A>G;ENST00000517570:exon3:c.199-2A>G;ENST00000400050:exon4:c.199-2A>G;ENST00000359865:exon4:c.199-2A>G)	.	.	0.999988624979899	0.934
18	8720334	A	T	18	8720336	y	y	splicing	MTCL1(NM_015210:exon4:c.199-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1279-2A>T;ENST00000517570:exon3:c.199-2A>T;ENST00000400050:exon4:c.199-2A>T;ENST00000359865:exon4:c.199-2A>T)	.	.	0.999988624979899	0.934
18	8720335	G	A	18	8720337	y	y	splicing	MTCL1(NM_015210:exon4:c.199-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1279-1G>A;ENST00000517570:exon3:c.199-1G>A;ENST00000400050:exon4:c.199-1G>A;ENST00000359865:exon4:c.199-1G>A)	.	.	0.999984967332678	0.94
18	8720335	G	C	18	8720337	y	y	splicing	MTCL1(NM_015210:exon4:c.199-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1279-1G>C;ENST00000517570:exon3:c.199-1G>C;ENST00000400050:exon4:c.199-1G>C;ENST00000359865:exon4:c.199-1G>C)	.	.	0.999984967332678	0.94
18	8720335	G	T	18	8720337	y	y	splicing	MTCL1(NM_015210:exon4:c.199-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1279-1G>T;ENST00000517570:exon3:c.199-1G>T;ENST00000400050:exon4:c.199-1G>T;ENST00000359865:exon4:c.199-1G>T)	.	.	0.999984967332678	0.94
18	8720336	G	A	18	8720338	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.G199A:p.V67I;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.G1279A:p.V427I;ENSG00000168502:ENST00000517570:exon3:c.G199A:p.V67I;ENSG00000168502:ENST00000400050:exon4:c.G199A:p.V67I;ENSG00000168502:ENST00000359865:exon4:c.G199A:p.V67I;	0.999808628297457	0.95
18	8720336	G	C	18	8720338	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.G199C:p.V67L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.G1279C:p.V427L;ENSG00000168502:ENST00000517570:exon3:c.G199C:p.V67L;ENSG00000168502:ENST00000400050:exon4:c.G199C:p.V67L;ENSG00000168502:ENST00000359865:exon4:c.G199C:p.V67L;	0.999857425763847	0.98
18	8720336	G	T	18	8720338	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.G199T:p.V67L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.G1279T:p.V427L;ENSG00000168502:ENST00000517570:exon3:c.G199T:p.V67L;ENSG00000168502:ENST00000400050:exon4:c.G199T:p.V67L;ENSG00000168502:ENST00000359865:exon4:c.G199T:p.V67L;	0.999952702351293	0.978
18	8720337	T	A	18	8720339	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.T200A:p.V67E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.T1280A:p.V427E;ENSG00000168502:ENST00000517570:exon3:c.T200A:p.V67E;ENSG00000168502:ENST00000400050:exon4:c.T200A:p.V67E;ENSG00000168502:ENST00000359865:exon4:c.T200A:p.V67E;	0.290234559559471	0.354
18	8720337	T	C	18	8720339	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.T200C:p.V67A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.T1280C:p.V427A;ENSG00000168502:ENST00000517570:exon3:c.T200C:p.V67A;ENSG00000168502:ENST00000400050:exon4:c.T200C:p.V67A;ENSG00000168502:ENST00000359865:exon4:c.T200C:p.V67A;	0.216719381868335	0.406
18	8720337	T	G	18	8720339	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.T200G:p.V67G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.T1280G:p.V427G;ENSG00000168502:ENST00000517570:exon3:c.T200G:p.V67G;ENSG00000168502:ENST00000400050:exon4:c.T200G:p.V67G;ENSG00000168502:ENST00000359865:exon4:c.T200G:p.V67G;	0.280951700481807	0.388
18	8720492	G	A	18	8720494	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.G355A:p.E119K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.G1435A:p.E479K;ENSG00000168502:ENST00000517570:exon3:c.G355A:p.E119K;ENSG00000168502:ENST00000400050:exon4:c.G355A:p.E119K;ENSG00000168502:ENST00000359865:exon4:c.G355A:p.E119K;	0.939477738037073	0.802
18	8720492	G	C	18	8720494	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.G355C:p.E119Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.G1435C:p.E479Q;ENSG00000168502:ENST00000517570:exon3:c.G355C:p.E119Q;ENSG00000168502:ENST00000400050:exon4:c.G355C:p.E119Q;ENSG00000168502:ENST00000359865:exon4:c.G355C:p.E119Q;	0.916611319444115	0.772
18	8720492	G	T	18	8720494	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon4:c.G355T:p.E119X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000306329:exon3:c.G1435T:p.E479X;ENSG00000168502:ENST00000517570:exon3:c.G355T:p.E119X;ENSG00000168502:ENST00000400050:exon4:c.G355T:p.E119X;ENSG00000168502:ENST00000359865:exon4:c.G355T:p.E119X;	0.994443866708245	0.76
18	8720493	A	C	18	8720495	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.A356C:p.E119A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.A1436C:p.E479A;ENSG00000168502:ENST00000517570:exon3:c.A356C:p.E119A;ENSG00000168502:ENST00000400050:exon4:c.A356C:p.E119A;ENSG00000168502:ENST00000359865:exon4:c.A356C:p.E119A;	0.999876892422342	1.0
18	8720493	A	G	18	8720495	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.A356G:p.E119G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.A1436G:p.E479G;ENSG00000168502:ENST00000517570:exon3:c.A356G:p.E119G;ENSG00000168502:ENST00000400050:exon4:c.A356G:p.E119G;ENSG00000168502:ENST00000359865:exon4:c.A356G:p.E119G;	0.999890073667905	1.0
18	8720493	A	T	18	8720495	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.A356T:p.E119V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.A1436T:p.E479V;ENSG00000168502:ENST00000517570:exon3:c.A356T:p.E119V;ENSG00000168502:ENST00000400050:exon4:c.A356T:p.E119V;ENSG00000168502:ENST00000359865:exon4:c.A356T:p.E119V;	0.999916333140977	0.992
18	8720494	G	A	18	8720496	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon4:c.G357A:p.E119E;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.G1437A:p.E479E;ENSG00000168502:ENST00000517570:exon3:c.G357A:p.E119E;ENSG00000168502:ENST00000400050:exon4:c.G357A:p.E119E;ENSG00000168502:ENST00000359865:exon4:c.G357A:p.E119E;	0.999970873598063	0.99
18	8720494	G	C	18	8720496	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.G357C:p.E119D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.G1437C:p.E479D;ENSG00000168502:ENST00000517570:exon3:c.G357C:p.E119D;ENSG00000168502:ENST00000400050:exon4:c.G357C:p.E119D;ENSG00000168502:ENST00000359865:exon4:c.G357C:p.E119D;	0.999995889549239	1.0
18	8720494	G	T	18	8720496	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon4:c.G357T:p.E119D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon3:c.G1437T:p.E479D;ENSG00000168502:ENST00000517570:exon3:c.G357T:p.E119D;ENSG00000168502:ENST00000400050:exon4:c.G357T:p.E119D;ENSG00000168502:ENST00000359865:exon4:c.G357T:p.E119D;	0.999985794747845	0.98
18	8720495	G	A	18	8720497	y	y	splicing	MTCL1(NM_015210:exon4:c.357+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1437+1G>A;ENST00000517570:exon3:c.357+1G>A;ENST00000400050:exon4:c.357+1G>A;ENST00000359865:exon4:c.357+1G>A)	.	.	0.999981760802075	0.938
18	8720495	G	C	18	8720497	y	y	splicing	MTCL1(NM_015210:exon4:c.357+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1437+1G>C;ENST00000517570:exon3:c.357+1G>C;ENST00000400050:exon4:c.357+1G>C;ENST00000359865:exon4:c.357+1G>C)	.	.	0.999981760802075	0.938
18	8720495	G	T	18	8720497	y	y	splicing	MTCL1(NM_015210:exon4:c.357+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1437+1G>T;ENST00000517570:exon3:c.357+1G>T;ENST00000400050:exon4:c.357+1G>T;ENST00000359865:exon4:c.357+1G>T)	.	.	0.999981760802075	0.938
18	8720496	T	A	18	8720498	y	y	splicing	MTCL1(NM_015210:exon4:c.357+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1437+2T>A;ENST00000517570:exon3:c.357+2T>A;ENST00000400050:exon4:c.357+2T>A;ENST00000359865:exon4:c.357+2T>A)	.	.	0.999989917668626	0.928
18	8720496	T	C	18	8720498	y	y	splicing	MTCL1(NM_015210:exon4:c.357+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1437+2T>C;ENST00000517570:exon3:c.357+2T>C;ENST00000400050:exon4:c.357+2T>C;ENST00000359865:exon4:c.357+2T>C)	.	.	0.988809971481602	0.626
18	8720496	T	G	18	8720498	y	y	splicing	MTCL1(NM_015210:exon4:c.357+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon3:c.1437+2T>G;ENST00000517570:exon3:c.357+2T>G;ENST00000400050:exon4:c.357+2T>G;ENST00000359865:exon4:c.357+2T>G)	.	.	0.999989917668626	0.926
18	8720497	A	C	18	8720499	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999943412520812	0.962
18	8720497	A	G	18	8720499	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.98534999226437	0.938
18	8720497	A	T	18	8720499	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999953688555093	0.956
18	8720498	A	C	18	8720500	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.98771599939661	0.784
18	8720498	A	G	18	8720500	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.998131127175098	0.944
18	8720498	A	T	18	8720500	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.995712767813124	0.844
18	8720499	T	A	18	8720501	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.67948111317833E-5	0.024
18	8720499	T	C	18	8720501	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.51392674731105E-5	0.006
18	8720499	T	G	18	8720501	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.79503995258932E-5	0.004
18	8720500	C	A	18	8720502	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.63294968316058E-4	0.02
18	8720500	C	G	18	8720502	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.81818220749965E-4	0.07
18	8720500	C	T	18	8720502	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.53549215943046E-4	0.01
18	8720501	C	A	18	8720503	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.22095984364125E-4	0.01
18	8720501	C	G	18	8720503	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.81294703577593E-4	0.006
18	8720501	C	T	18	8720503	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00188286774233746	0.05
18	8720502	A	C	18	8720504	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.62664281804568E-4	0.0
18	8720502	A	G	18	8720504	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.14431295529628E-4	0.0
18	8720502	A	T	18	8720504	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.6026288566788E-4	0.004
18	8777819	G	A	18	8777821	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.98315898993641E-4	0.122
18	8777819	G	C	18	8777821	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.11656994683594E-4	0.016
18	8777819	G	T	18	8777821	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.92558476102486E-4	0.02
18	8777820	A	C	18	8777822	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.19437242446444E-5	0.01
18	8777820	A	G	18	8777822	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.6682975802859E-5	0.012
18	8777820	A	T	18	8777822	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.68817980936188E-6	0.032
18	8777821	T	A	18	8777823	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999634718204827	0.932
18	8777821	T	C	18	8777823	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.752364034404162	0.54
18	8777821	T	G	18	8777823	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999984154059338	0.978
18	8777822	C	A	18	8777824	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.571943724921392	0.432
18	8777822	C	G	18	8777824	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.253798797072438	0.28
18	8777822	C	T	18	8777824	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.533748477719737	0.548
18	8777823	T	A	18	8777825	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999587020623577	0.88
18	8777823	T	C	18	8777825	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.701531289633441	0.608
18	8777823	T	G	18	8777825	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999475579642531	0.916
18	8777824	A	C	18	8777826	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.13218482194543E-4	0.094
18	8777824	A	G	18	8777826	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.7062887964608E-4	0.098
18	8777824	A	T	18	8777826	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.67422979636334E-5	0.048
18	8777825	T	A	18	8777827	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999176318547659	0.86
18	8777825	T	C	18	8777827	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.415417690504774	0.516
18	8777825	T	G	18	8777827	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999976441781424	0.97
18	8777826	T	A	18	8777828	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999924363558052	0.958
18	8777826	T	C	18	8777828	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.925193815045131	0.506
18	8777826	T	G	18	8777828	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999794177502029	0.942
18	8777827	T	A	18	8777829	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0118015766611431	0.128
18	8777827	T	C	18	8777829	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00110475884379444	0.074
18	8777827	T	G	18	8777829	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00361116019374159	0.094
18	8777828	C	A	18	8777830	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999361812579956	0.96
18	8777828	C	G	18	8777830	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999939024323043	0.988
18	8777828	C	T	18	8777830	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.20612723115627	0.228
18	8777829	A	C	18	8777831	y	y	splicing	MTCL1(NM_015210:exon5:c.358-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1438-2A>C;ENST00000517570:exon4:c.358-2A>C;ENST00000400050:exon5:c.358-2A>C;ENST00000359865:exon5:c.358-2A>C)	.	.	0.999988247793601	0.954
18	8777829	A	G	18	8777831	y	y	splicing	MTCL1(NM_015210:exon5:c.358-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1438-2A>G;ENST00000517570:exon4:c.358-2A>G;ENST00000400050:exon5:c.358-2A>G;ENST00000359865:exon5:c.358-2A>G)	.	.	0.999988247793601	0.954
18	8777829	A	T	18	8777831	y	y	splicing	MTCL1(NM_015210:exon5:c.358-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1438-2A>T;ENST00000517570:exon4:c.358-2A>T;ENST00000400050:exon5:c.358-2A>T;ENST00000359865:exon5:c.358-2A>T)	.	.	0.999988247793601	0.954
18	8777830	G	A	18	8777832	y	y	splicing	MTCL1(NM_015210:exon5:c.358-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1438-1G>A;ENST00000517570:exon4:c.358-1G>A;ENST00000400050:exon5:c.358-1G>A;ENST00000359865:exon5:c.358-1G>A)	.	.	0.999990361384395	0.952
18	8777830	G	C	18	8777832	y	y	splicing	MTCL1(NM_015210:exon5:c.358-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1438-1G>C;ENST00000517570:exon4:c.358-1G>C;ENST00000400050:exon5:c.358-1G>C;ENST00000359865:exon5:c.358-1G>C)	.	.	0.999990361384395	0.952
18	8777830	G	T	18	8777832	y	y	splicing	MTCL1(NM_015210:exon5:c.358-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1438-1G>T;ENST00000517570:exon4:c.358-1G>T;ENST00000400050:exon5:c.358-1G>T;ENST00000359865:exon5:c.358-1G>T)	.	.	0.999990361384395	0.952
18	8777831	A	C	18	8777833	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.A358C:p.S120R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.A1438C:p.S480R;ENSG00000168502:ENST00000517570:exon4:c.A358C:p.S120R;ENSG00000168502:ENST00000400050:exon5:c.A358C:p.S120R;ENSG00000168502:ENST00000359865:exon5:c.A358C:p.S120R;	0.939102911818507	0.574
18	8777831	A	G	18	8777833	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.A358G:p.S120G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.A1438G:p.S480G;ENSG00000168502:ENST00000517570:exon4:c.A358G:p.S120G;ENSG00000168502:ENST00000400050:exon5:c.A358G:p.S120G;ENSG00000168502:ENST00000359865:exon5:c.A358G:p.S120G;	0.698501781543965	0.408
18	8777831	A	T	18	8777833	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.A358T:p.S120C;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.A1438T:p.S480C;ENSG00000168502:ENST00000517570:exon4:c.A358T:p.S120C;ENSG00000168502:ENST00000400050:exon5:c.A358T:p.S120C;ENSG00000168502:ENST00000359865:exon5:c.A358T:p.S120C;	0.921011524854857	0.482
18	8777832	G	A	18	8777834	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.G359A:p.S120N;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.G1439A:p.S480N;ENSG00000168502:ENST00000517570:exon4:c.G359A:p.S120N;ENSG00000168502:ENST00000400050:exon5:c.G359A:p.S120N;ENSG00000168502:ENST00000359865:exon5:c.G359A:p.S120N;	0.00267067036564171	0.114
18	8777832	G	C	18	8777834	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.G359C:p.S120T;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.G1439C:p.S480T;ENSG00000168502:ENST00000517570:exon4:c.G359C:p.S120T;ENSG00000168502:ENST00000400050:exon5:c.G359C:p.S120T;ENSG00000168502:ENST00000359865:exon5:c.G359C:p.S120T;	0.0168145748504914	0.164
18	8777832	G	T	18	8777834	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.G359T:p.S120I;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.G1439T:p.S480I;ENSG00000168502:ENST00000517570:exon4:c.G359T:p.S120I;ENSG00000168502:ENST00000400050:exon5:c.G359T:p.S120I;ENSG00000168502:ENST00000359865:exon5:c.G359T:p.S120I;	0.0229890789558381	0.254
18	8777888	C	A	18	8777890	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.C415A:p.Q139K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.C1495A:p.Q499K;ENSG00000168502:ENST00000517570:exon4:c.C415A:p.Q139K;ENSG00000168502:ENST00000400050:exon5:c.C415A:p.Q139K;ENSG00000168502:ENST00000359865:exon5:c.C415A:p.Q139K;	0.959243728182234	0.772
18	8777888	C	G	18	8777890	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.C415G:p.Q139E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.C1495G:p.Q499E;ENSG00000168502:ENST00000517570:exon4:c.C415G:p.Q139E;ENSG00000168502:ENST00000400050:exon5:c.C415G:p.Q139E;ENSG00000168502:ENST00000359865:exon5:c.C415G:p.Q139E;	0.925740154256221	0.632
18	8777888	C	T	18	8777890	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon5:c.C415T:p.Q139X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000306329:exon4:c.C1495T:p.Q499X;ENSG00000168502:ENST00000517570:exon4:c.C415T:p.Q139X;ENSG00000168502:ENST00000400050:exon5:c.C415T:p.Q139X;ENSG00000168502:ENST00000359865:exon5:c.C415T:p.Q139X;	0.998559238509658	0.738
18	8777889	A	C	18	8777891	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.A416C:p.Q139P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.A1496C:p.Q499P;ENSG00000168502:ENST00000517570:exon4:c.A416C:p.Q139P;ENSG00000168502:ENST00000400050:exon5:c.A416C:p.Q139P;ENSG00000168502:ENST00000359865:exon5:c.A416C:p.Q139P;	0.994609634406765	0.86
18	8777889	A	G	18	8777891	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.A416G:p.Q139R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.A1496G:p.Q499R;ENSG00000168502:ENST00000517570:exon4:c.A416G:p.Q139R;ENSG00000168502:ENST00000400050:exon5:c.A416G:p.Q139R;ENSG00000168502:ENST00000359865:exon5:c.A416G:p.Q139R;	0.997585416759495	0.95
18	8777889	A	T	18	8777891	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.A416T:p.Q139L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.A1496T:p.Q499L;ENSG00000168502:ENST00000517570:exon4:c.A416T:p.Q139L;ENSG00000168502:ENST00000400050:exon5:c.A416T:p.Q139L;ENSG00000168502:ENST00000359865:exon5:c.A416T:p.Q139L;	0.993059078728277	0.65
18	8777890	G	A	18	8777892	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon5:c.G417A:p.Q139Q;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.G1497A:p.Q499Q;ENSG00000168502:ENST00000517570:exon4:c.G417A:p.Q139Q;ENSG00000168502:ENST00000400050:exon5:c.G417A:p.Q139Q;ENSG00000168502:ENST00000359865:exon5:c.G417A:p.Q139Q;	0.999882042232828	0.94
18	8777890	G	C	18	8777892	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.G417C:p.Q139H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.G1497C:p.Q499H;ENSG00000168502:ENST00000517570:exon4:c.G417C:p.Q139H;ENSG00000168502:ENST00000400050:exon5:c.G417C:p.Q139H;ENSG00000168502:ENST00000359865:exon5:c.G417C:p.Q139H;	0.999967377951008	0.964
18	8777890	G	T	18	8777892	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon5:c.G417T:p.Q139H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon4:c.G1497T:p.Q499H;ENSG00000168502:ENST00000517570:exon4:c.G417T:p.Q139H;ENSG00000168502:ENST00000400050:exon5:c.G417T:p.Q139H;ENSG00000168502:ENST00000359865:exon5:c.G417T:p.Q139H;	0.999890420061308	0.98
18	8777891	G	A	18	8777893	y	y	splicing	MTCL1(NM_015210:exon5:c.417+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1497+1G>A;ENST00000517570:exon4:c.417+1G>A;ENST00000400050:exon5:c.417+1G>A;ENST00000359865:exon5:c.417+1G>A)	.	.	0.999990361384395	0.938
18	8777891	G	C	18	8777893	y	y	splicing	MTCL1(NM_015210:exon5:c.417+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1497+1G>C;ENST00000517570:exon4:c.417+1G>C;ENST00000400050:exon5:c.417+1G>C;ENST00000359865:exon5:c.417+1G>C)	.	.	0.999990361384395	0.938
18	8777891	G	T	18	8777893	y	y	splicing	MTCL1(NM_015210:exon5:c.417+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1497+1G>T;ENST00000517570:exon4:c.417+1G>T;ENST00000400050:exon5:c.417+1G>T;ENST00000359865:exon5:c.417+1G>T)	.	.	0.999990361384395	0.938
18	8777892	T	A	18	8777894	y	y	splicing	MTCL1(NM_015210:exon5:c.417+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1497+2T>A;ENST00000517570:exon4:c.417+2T>A;ENST00000400050:exon5:c.417+2T>A;ENST00000359865:exon5:c.417+2T>A)	.	.	0.999988247793601	0.932
18	8777892	T	C	18	8777894	y	y	splicing	MTCL1(NM_015210:exon5:c.417+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1497+2T>C;ENST00000517570:exon4:c.417+2T>C;ENST00000400050:exon5:c.417+2T>C;ENST00000359865:exon5:c.417+2T>C)	.	.	0.994669226766359	0.71
18	8777892	T	G	18	8777894	y	y	splicing	MTCL1(NM_015210:exon5:c.417+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon4:c.1497+2T>G;ENST00000517570:exon4:c.417+2T>G;ENST00000400050:exon5:c.417+2T>G;ENST00000359865:exon5:c.417+2T>G)	.	.	0.999988247793601	0.932
18	8777893	A	C	18	8777895	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999292011596908	0.944
18	8777893	A	G	18	8777895	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.945960348964742	0.442
18	8777893	A	T	18	8777895	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.998613946866446	0.89
18	8777894	A	C	18	8777896	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.980477899670413	0.878
18	8777894	A	G	18	8777896	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.989099408136844	0.87
18	8777894	A	T	18	8777896	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.988257248724463	0.852
18	8777895	G	A	18	8777897	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.998997946887237	0.842
18	8777895	G	C	18	8777897	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.967492953303465	0.776
18	8777895	G	T	18	8777897	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.998599484434916	0.734
18	8777896	C	A	18	8777898	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.05444042712903E-4	0.018
18	8777896	C	G	18	8777898	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.64556858782265E-4	0.028
18	8777896	C	T	18	8777898	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.17533928303118E-4	0.012
18	8777897	A	C	18	8777899	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.14882596811557E-4	0.068
18	8777897	A	G	18	8777899	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.14882596811557E-4	0.068
18	8777897	A	T	18	8777899	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.00855661603621E-4	0.03
18	8777898	G	A	18	8777900	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0244474410587017	0.132
18	8777898	G	C	18	8777900	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00787938022044877	0.138
18	8777898	G	T	18	8777900	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0144410115989087	0.178
18	8782713	A	C	18	8782715	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	6.09332237519757E-5	0.01
18	8782713	A	G	18	8782715	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	6.09332237519757E-5	0.01
18	8782713	A	T	18	8782715	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	6.09332237519757E-5	0.01
18	8782714	A	C	18	8782716	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.05918261028706E-4	0.0
18	8782714	A	G	18	8782716	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.05918261028706E-4	0.0
18	8782714	A	T	18	8782716	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.05918261028706E-4	0.0
18	8782715	C	A	18	8782717	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	2.4746191741039E-5	0.0
18	8782715	C	G	18	8782717	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	2.4746191741039E-5	0.0
18	8782715	C	T	18	8782717	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	2.4746191741039E-5	0.0
18	8782716	G	A	18	8782718	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	1.46004206284423E-5	0.0
18	8782716	G	C	18	8782718	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	1.39192150166447E-5	0.0
18	8782716	G	T	18	8782718	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	1.39192150166447E-5	0.008
18	8782717	T	A	18	8782719	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	7.85892088628007E-5	0.012
18	8782717	T	C	18	8782719	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	1.05089878083976E-4	0.016
18	8782717	T	G	18	8782719	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	1.05089878083976E-4	0.016
18	8782718	A	C	18	8782720	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.37574485200314E-5	0.0
18	8782718	A	G	18	8782720	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.37574485200314E-5	0.0
18	8782718	A	T	18	8782720	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.37574485200314E-5	0.0
18	8782719	A	C	18	8782721	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.05089878083976E-4	0.044
18	8782719	A	G	18	8782721	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.05089878083976E-4	0.028
18	8782719	A	T	18	8782721	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.85892088628007E-5	0.008
18	8782720	G	A	18	8782722	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.00675832680685E-4	0.002
18	8782720	G	C	18	8782722	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.00675832680685E-4	0.002
18	8782720	G	T	18	8782722	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.00675832680685E-4	0.0
18	8782721	T	A	18	8782723	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.4746191741039E-5	0.0
18	8782721	T	C	18	8782723	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.49778138453998E-5	0.0
18	8782721	T	G	18	8782723	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.49778138453998E-5	0.0
18	8782722	A	C	18	8782724	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.85892088628007E-5	0.008
18	8782722	A	G	18	8782724	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.85892088628007E-5	0.008
18	8782722	A	T	18	8782724	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.85892088628007E-5	0.006
18	8782723	A	C	18	8782725	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.25896182624293E-5	0.0
18	8782723	A	G	18	8782725	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.25896182624293E-5	0.0
18	8782723	A	T	18	8782725	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.54404724015672E-5	0.0
18	8783516	C	A	18	8783518	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00938791374241406	0.164
18	8783516	C	G	18	8783518	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00270941943450305	0.05
18	8783516	C	T	18	8783518	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00574935053827778	0.086
18	8783517	T	A	18	8783519	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.962752241934582	0.74
18	8783517	T	C	18	8783519	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.838033790189621	0.472
18	8783517	T	G	18	8783519	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.951037290469762	0.73
18	8783518	C	A	18	8783520	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.42689241439299E-4	0.048
18	8783518	C	G	18	8783520	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.89207597649989E-4	0.028
18	8783518	C	T	18	8783520	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.37749548290426E-5	0.02
18	8783519	T	A	18	8783521	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0373521337179455	0.256
18	8783519	T	C	18	8783521	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00317451548751009	0.036
18	8783519	T	G	18	8783521	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0130704665848902	0.096
18	8783520	C	A	18	8783522	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00952594612496051	0.168
18	8783520	C	G	18	8783522	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00875590972230917	0.152
18	8783520	C	T	18	8783522	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.41655959546013E-4	0.008
18	8783521	C	A	18	8783523	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0703146865613468	0.224
18	8783521	C	G	18	8783523	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0477792375418444	0.232
18	8783521	C	T	18	8783523	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00137127989793806	0.078
18	8783522	T	A	18	8783524	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999384700480947	0.96
18	8783522	T	C	18	8783524	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.10193327574994E-4	0.0
18	8783522	T	G	18	8783524	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0164823599760712	0.106
18	8783523	G	A	18	8783525	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.953346337244677	0.42
18	8783523	G	C	18	8783525	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0086264490048924	0.054
18	8783523	G	T	18	8783525	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00274361293123307	0.056
18	8783524	G	A	18	8783526	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0136543411502605	0.094
18	8783524	G	C	18	8783526	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0167437662675515	0.084
18	8783524	G	T	18	8783526	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0501934673175414	0.136
18	8783525	C	A	18	8783527	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999859869301342	0.836
18	8783525	C	G	18	8783527	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999901721182834	0.95
18	8783525	C	T	18	8783527	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.101710279302217	0.134
18	8783526	A	C	18	8783528	y	y	splicing	MTCL1(NM_015210:exon6:c.418-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.1498-2A>C;ENST00000517570:exon5:c.418-2A>C;ENST00000400050:exon6:c.418-2A>C;ENST00000359865:exon6:c.418-2A>C)	.	.	0.999988247793601	0.928
18	8783526	A	G	18	8783528	y	y	splicing	MTCL1(NM_015210:exon6:c.418-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.1498-2A>G;ENST00000517570:exon5:c.418-2A>G;ENST00000400050:exon6:c.418-2A>G;ENST00000359865:exon6:c.418-2A>G)	.	.	0.999988247793601	0.928
18	8783526	A	T	18	8783528	y	y	splicing	MTCL1(NM_015210:exon6:c.418-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.1498-2A>T;ENST00000517570:exon5:c.418-2A>T;ENST00000400050:exon6:c.418-2A>T;ENST00000359865:exon6:c.418-2A>T)	.	.	0.999988247793601	0.928
18	8783527	G	A	18	8783529	y	y	splicing	MTCL1(NM_015210:exon6:c.418-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.1498-1G>A;ENST00000517570:exon5:c.418-1G>A;ENST00000400050:exon6:c.418-1G>A;ENST00000359865:exon6:c.418-1G>A)	.	.	0.999990361384395	0.938
18	8783527	G	C	18	8783529	y	y	splicing	MTCL1(NM_015210:exon6:c.418-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.1498-1G>C;ENST00000517570:exon5:c.418-1G>C;ENST00000400050:exon6:c.418-1G>C;ENST00000359865:exon6:c.418-1G>C)	.	.	0.999990361384395	0.936
18	8783527	G	T	18	8783529	y	y	splicing	MTCL1(NM_015210:exon6:c.418-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.1498-1G>T;ENST00000517570:exon5:c.418-1G>T;ENST00000400050:exon6:c.418-1G>T;ENST00000359865:exon6:c.418-1G>T)	.	.	0.999990361384395	0.936
18	8783528	G	A	18	8783530	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.G418A:p.D140N;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon5:c.G1498A:p.D500N;ENSG00000168502:ENST00000517570:exon5:c.G418A:p.D140N;ENSG00000168502:ENST00000400050:exon6:c.G418A:p.D140N;ENSG00000168502:ENST00000359865:exon6:c.G418A:p.D140N;	0.998245924052427	0.852
18	8783528	G	C	18	8783530	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.G418C:p.D140H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon5:c.G1498C:p.D500H;ENSG00000168502:ENST00000517570:exon5:c.G418C:p.D140H;ENSG00000168502:ENST00000400050:exon6:c.G418C:p.D140H;ENSG00000168502:ENST00000359865:exon6:c.G418C:p.D140H;	0.999671649753768	0.982
18	8783528	G	T	18	8783530	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.G418T:p.D140Y;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon5:c.G1498T:p.D500Y;ENSG00000168502:ENST00000517570:exon5:c.G418T:p.D140Y;ENSG00000168502:ENST00000400050:exon6:c.G418T:p.D140Y;ENSG00000168502:ENST00000359865:exon6:c.G418T:p.D140Y;	0.999758582541309	0.99
18	8783529	A	C	18	8783531	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.A419C:p.D140A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon5:c.A1499C:p.D500A;ENSG00000168502:ENST00000517570:exon5:c.A419C:p.D140A;ENSG00000168502:ENST00000400050:exon6:c.A419C:p.D140A;ENSG00000168502:ENST00000359865:exon6:c.A419C:p.D140A;	0.936008729851518	0.73
18	8783529	A	G	18	8783531	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.A419G:p.D140G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon5:c.A1499G:p.D500G;ENSG00000168502:ENST00000517570:exon5:c.A419G:p.D140G;ENSG00000168502:ENST00000400050:exon6:c.A419G:p.D140G;ENSG00000168502:ENST00000359865:exon6:c.A419G:p.D140G;	0.920782258063592	0.632
18	8783529	A	T	18	8783531	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.A419T:p.D140V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon5:c.A1499T:p.D500V;ENSG00000168502:ENST00000517570:exon5:c.A419T:p.D140V;ENSG00000168502:ENST00000400050:exon6:c.A419T:p.D140V;ENSG00000168502:ENST00000359865:exon6:c.A419T:p.D140V;	0.90370364882517	0.8
18	8784839	C	A	18	8784841	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.C1729A:p.Q577K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon2:c.C1255A:p.Q419K;ENSG00000168502:ENST00000306329:exon5:c.C2809A:p.Q937K;ENSG00000168502:ENST00000517570:exon5:c.C1729A:p.Q577K;ENSG00000168502:ENST00000400050:exon6:c.C1729A:p.Q577K;ENSG00000168502:ENST00000359865:exon6:c.C1729A:p.Q577K;	0.708482337389274	0.42
18	8784839	C	G	18	8784841	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.C1729G:p.Q577E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon2:c.C1255G:p.Q419E;ENSG00000168502:ENST00000306329:exon5:c.C2809G:p.Q937E;ENSG00000168502:ENST00000517570:exon5:c.C1729G:p.Q577E;ENSG00000168502:ENST00000400050:exon6:c.C1729G:p.Q577E;ENSG00000168502:ENST00000359865:exon6:c.C1729G:p.Q577E;	0.0411696040795836	0.132
18	8784839	C	T	18	8784841	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon6:c.C1729T:p.Q577X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000520495:exon2:c.C1255T:p.Q419X;ENSG00000168502:ENST00000306329:exon5:c.C2809T:p.Q937X;ENSG00000168502:ENST00000517570:exon5:c.C1729T:p.Q577X;ENSG00000168502:ENST00000400050:exon6:c.C1729T:p.Q577X;ENSG00000168502:ENST00000359865:exon6:c.C1729T:p.Q577X;	0.995674400958099	0.832
18	8784840	A	C	18	8784842	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.A1730C:p.Q577P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon2:c.A1256C:p.Q419P;ENSG00000168502:ENST00000306329:exon5:c.A2810C:p.Q937P;ENSG00000168502:ENST00000517570:exon5:c.A1730C:p.Q577P;ENSG00000168502:ENST00000400050:exon6:c.A1730C:p.Q577P;ENSG00000168502:ENST00000359865:exon6:c.A1730C:p.Q577P;	0.442075956407188	0.54
18	8784840	A	G	18	8784842	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.A1730G:p.Q577R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon2:c.A1256G:p.Q419R;ENSG00000168502:ENST00000306329:exon5:c.A2810G:p.Q937R;ENSG00000168502:ENST00000517570:exon5:c.A1730G:p.Q577R;ENSG00000168502:ENST00000400050:exon6:c.A1730G:p.Q577R;ENSG00000168502:ENST00000359865:exon6:c.A1730G:p.Q577R;	0.928261841659628	0.748
18	8784840	A	T	18	8784842	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.A1730T:p.Q577L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon2:c.A1256T:p.Q419L;ENSG00000168502:ENST00000306329:exon5:c.A2810T:p.Q937L;ENSG00000168502:ENST00000517570:exon5:c.A1730T:p.Q577L;ENSG00000168502:ENST00000400050:exon6:c.A1730T:p.Q577L;ENSG00000168502:ENST00000359865:exon6:c.A1730T:p.Q577L;	0.947406237817805	0.624
18	8784841	G	A	18	8784843	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon6:c.G1731A:p.Q577Q;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000520495:exon2:c.G1257A:p.Q419Q;ENSG00000168502:ENST00000306329:exon5:c.G2811A:p.Q937Q;ENSG00000168502:ENST00000517570:exon5:c.G1731A:p.Q577Q;ENSG00000168502:ENST00000400050:exon6:c.G1731A:p.Q577Q;ENSG00000168502:ENST00000359865:exon6:c.G1731A:p.Q577Q;	0.996878963655262	0.954
18	8784841	G	C	18	8784843	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.G1731C:p.Q577H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon2:c.G1257C:p.Q419H;ENSG00000168502:ENST00000306329:exon5:c.G2811C:p.Q937H;ENSG00000168502:ENST00000517570:exon5:c.G1731C:p.Q577H;ENSG00000168502:ENST00000400050:exon6:c.G1731C:p.Q577H;ENSG00000168502:ENST00000359865:exon6:c.G1731C:p.Q577H;	0.998043460518393	0.95
18	8784841	G	T	18	8784843	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon6:c.G1731T:p.Q577H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon2:c.G1257T:p.Q419H;ENSG00000168502:ENST00000306329:exon5:c.G2811T:p.Q937H;ENSG00000168502:ENST00000517570:exon5:c.G1731T:p.Q577H;ENSG00000168502:ENST00000400050:exon6:c.G1731T:p.Q577H;ENSG00000168502:ENST00000359865:exon6:c.G1731T:p.Q577H;	0.999651933978957	0.93
18	8784842	G	A	18	8784844	y	y	splicing	MTCL1(NM_015210:exon6:c.1731+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.2811+1G>A;ENST00000517570:exon5:c.1731+1G>A;ENST00000400050:exon6:c.1731+1G>A;ENST00000359865:exon6:c.1731+1G>A;ENST00000520495:exon2:c.1257+1G>A)	.	.	0.999983848595015	0.928
18	8784842	G	C	18	8784844	y	y	splicing	MTCL1(NM_015210:exon6:c.1731+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.2811+1G>C;ENST00000517570:exon5:c.1731+1G>C;ENST00000400050:exon6:c.1731+1G>C;ENST00000359865:exon6:c.1731+1G>C;ENST00000520495:exon2:c.1257+1G>C)	.	.	0.999958321559964	0.928
18	8784842	G	T	18	8784844	y	y	splicing	MTCL1(NM_015210:exon6:c.1731+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.2811+1G>T;ENST00000517570:exon5:c.1731+1G>T;ENST00000400050:exon6:c.1731+1G>T;ENST00000359865:exon6:c.1731+1G>T;ENST00000520495:exon2:c.1257+1G>T)	.	.	0.999983848595015	0.928
18	8784843	T	A	18	8784845	y	y	splicing	MTCL1(NM_015210:exon6:c.1731+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.2811+2T>A;ENST00000517570:exon5:c.1731+2T>A;ENST00000400050:exon6:c.1731+2T>A;ENST00000359865:exon6:c.1731+2T>A;ENST00000520495:exon2:c.1257+2T>A)	.	.	0.999989917668626	0.926
18	8784843	T	C	18	8784845	y	y	splicing	MTCL1(NM_015210:exon6:c.1731+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.2811+2T>C;ENST00000517570:exon5:c.1731+2T>C;ENST00000400050:exon6:c.1731+2T>C;ENST00000359865:exon6:c.1731+2T>C;ENST00000520495:exon2:c.1257+2T>C)	.	.	0.986528855787127	0.608
18	8784843	T	G	18	8784845	y	y	splicing	MTCL1(NM_015210:exon6:c.1731+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon5:c.2811+2T>G;ENST00000517570:exon5:c.1731+2T>G;ENST00000400050:exon6:c.1731+2T>G;ENST00000359865:exon6:c.1731+2T>G;ENST00000520495:exon2:c.1257+2T>G)	.	.	0.999989917668626	0.918
18	8784844	A	C	18	8784846	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.981948531582959	0.648
18	8784844	A	G	18	8784846	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.207312341976893	0.28
18	8784844	A	T	18	8784846	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.989569884329333	0.88
18	8784845	A	C	18	8784847	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.782876393535041	0.606
18	8784845	A	G	18	8784847	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.950811474325316	0.632
18	8784845	A	T	18	8784847	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.942882282448786	0.624
18	8784846	G	A	18	8784848	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.981927168290697	0.714
18	8784846	G	C	18	8784848	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.811717244607032	0.556
18	8784846	G	T	18	8784848	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.93864493441613	0.566
18	8784847	G	A	18	8784849	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00842016120986367	0.106
18	8784847	G	C	18	8784849	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0299696328376293	0.236
18	8784847	G	T	18	8784849	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00221679602138853	0.008
18	8784848	G	A	18	8784850	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0110448870984306	0.04
18	8784848	G	C	18	8784850	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0110448870984306	0.042
18	8784848	G	T	18	8784850	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0093880660510778	0.076
18	8784849	G	A	18	8784851	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0110448870984306	0.038
18	8784849	G	C	18	8784851	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0110448870984306	0.042
18	8784849	G	T	18	8784851	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0110448870984306	0.056
18	8785676	T	A	18	8785678	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.455930068921E-5	0.004
18	8785676	T	C	18	8785678	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.38731564659595E-5	0.004
18	8785676	T	G	18	8785678	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.38731564659595E-5	0.004
18	8785677	T	A	18	8785679	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.26423815498506E-5	0.0
18	8785677	T	C	18	8785679	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.87872098031522E-5	0.0
18	8785677	T	G	18	8785679	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.87872098031522E-5	0.0
18	8785678	T	A	18	8785680	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.03334260509943E-4	0.002
18	8785678	T	C	18	8785680	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.03334260509943E-4	0.002
18	8785678	T	G	18	8785680	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.03334260509943E-4	0.002
18	8785679	G	A	18	8785681	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.99368953999463E-5	0.002
18	8785679	G	C	18	8785681	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.75289494538373E-5	0.002
18	8785679	G	T	18	8785681	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.75289494538373E-5	0.002
18	8785680	C	A	18	8785682	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.52932449848953E-5	0.014
18	8785680	C	G	18	8785682	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.05670308788612E-5	0.036
18	8785680	C	T	18	8785682	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.52932449848953E-5	0.006
18	8785681	T	A	18	8785683	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.64726965068443E-5	0.006
18	8785681	T	C	18	8785683	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.64726965068443E-5	0.004
18	8785681	T	G	18	8785683	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.64726965068443E-5	0.004
18	8785682	T	A	18	8785684	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.27145488438373E-5	0.0
18	8785682	T	C	18	8785684	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.17833868802641E-5	0.0
18	8785682	T	G	18	8785684	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.17833868802641E-5	0.0
18	8785683	T	A	18	8785685	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.58105716915162E-4	0.008
18	8785683	T	C	18	8785685	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.69920781969578E-5	0.004
18	8785683	T	G	18	8785685	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.69920781969578E-5	0.004
18	8785684	T	A	18	8785686	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.46004206284423E-5	0.0
18	8785684	T	C	18	8785686	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.46004206284423E-5	0.0
18	8785684	T	G	18	8785686	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.46004206284423E-5	0.0
18	8785685	C	A	18	8785687	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.74480241737554E-4	0.0
18	8785685	C	G	18	8785687	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.74480241737554E-4	0.004
18	8785685	C	T	18	8785687	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.74480241737554E-4	0.0
18	8785686	A	C	18	8785688	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1258-2A>C)	.	.	3.15849948155271E-5	0.0
18	8785686	A	G	18	8785688	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1258-2A>G)	.	.	3.15849948155271E-5	0.0
18	8785686	A	T	18	8785688	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1258-2A>T)	.	.	3.15849948155271E-5	0.0
18	8785687	G	A	18	8785689	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1258-1G>A)	.	.	3.24015432087519E-5	0.0
18	8785687	G	C	18	8785689	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1258-1G>C)	.	.	3.00286289604843E-5	0.0
18	8785687	G	T	18	8785689	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1258-1G>T)	.	.	3.00286289604843E-5	0.0
18	8785688	A	C	18	8785690	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.A1258C:p.M420L;	4.24975915077222E-5	0.0
18	8785688	A	G	18	8785690	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.A1258G:p.M420V;	3.0180149904064E-5	0.002
18	8785688	A	T	18	8785690	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.A1258T:p.M420L;	2.33815804894828E-5	0.0
18	8785689	T	A	18	8785691	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.T1259A:p.M420K;	5.25860295704321E-5	0.014
18	8785689	T	C	18	8785691	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.T1259C:p.M420T;	2.76906606547767E-5	0.006
18	8785689	T	G	18	8785691	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.T1259G:p.M420R;	4.27719853771942E-5	0.006
18	8785722	T	A	18	8785724	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000520495:exon3:c.T1292A:p.L431X;	1.68610827744646E-4	0.268
18	8785722	T	C	18	8785724	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.T1292C:p.L431S;	8.07028132666917E-5	0.004
18	8785722	T	G	18	8785724	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.T1292G:p.L431W;	8.07028132666917E-5	0.006
18	8785723	G	A	18	8785725	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.G1293A:p.L431L;	2.4631346304159E-5	0.034
18	8785723	G	C	18	8785725	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.G1293C:p.L431F;	3.80465223468383E-5	0.034
18	8785723	G	T	18	8785725	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.G1293T:p.L431F;	3.80465223468383E-5	0.034
18	8785724	G	A	18	8785726	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.G1294A:p.V432I;	3.69930370103191E-5	0.0
18	8785724	G	C	18	8785726	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.G1294C:p.V432L;	3.57076726553018E-5	0.0
18	8785724	G	T	18	8785726	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon3:c.G1294T:p.V432F;	3.57076726553018E-5	0.0
18	8785725	G	A	18	8785727	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1294+1G>A)	.	.	2.46522264953722E-5	0.0
18	8785725	G	C	18	8785727	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1294+1G>C)	.	.	2.46522264953722E-5	0.0
18	8785725	G	T	18	8785727	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1294+1G>T)	.	.	2.46522264953722E-5	0.0
18	8785726	T	A	18	8785728	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1294+2T>A)	.	.	8.35697579118787E-5	0.0
18	8785726	T	C	18	8785728	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1294+2T>C)	.	.	4.59797615271383E-5	0.0
18	8785726	T	G	18	8785728	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000520495:exon3:c.1294+2T>G)	.	.	4.59797615271383E-5	0.0
18	8785727	C	A	18	8785729	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.33308296055063E-4	0.052
18	8785727	C	G	18	8785729	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.33308296055063E-4	0.038
18	8785727	C	T	18	8785729	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.33308296055063E-4	0.13
18	8785728	T	A	18	8785730	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.85062238621114E-5	0.0
18	8785728	T	C	18	8785730	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.44656497212392E-5	0.0
18	8785728	T	G	18	8785730	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.44656497212392E-5	0.0
18	8785729	G	A	18	8785731	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.52932449848953E-5	0.006
18	8785729	G	C	18	8785731	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.52932449848953E-5	0.008
18	8785729	G	T	18	8785731	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.52932449848953E-5	0.006
18	8785730	T	A	18	8785732	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.3686917030135E-5	0.0
18	8785730	T	C	18	8785732	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.40359436175598E-5	0.0
18	8785730	T	G	18	8785732	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.40359436175598E-5	0.0
18	8785731	T	A	18	8785733	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.455930068921E-5	0.002
18	8785731	T	C	18	8785733	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.38731564659595E-5	0.002
18	8785731	T	G	18	8785733	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.46381340174623E-5	0.002
18	8785732	T	A	18	8785734	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.38863475275964E-5	0.0
18	8785732	T	C	18	8785734	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.38863475275964E-5	0.0
18	8785732	T	G	18	8785734	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.38863475275964E-5	0.0
18	8785922	T	A	18	8785924	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999968677371244	0.966
18	8785922	T	C	18	8785924	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.183084397693665	0.414
18	8785922	T	G	18	8785924	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999367031364982	0.924
18	8785923	G	A	18	8785925	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.143292570708911	0.372
18	8785923	G	C	18	8785925	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0952777832820254	0.506
18	8785923	G	T	18	8785925	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.173426373233722	0.624
18	8785924	C	A	18	8785926	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.987291941133817	0.666
18	8785924	C	G	18	8785926	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.958035205650683	0.656
18	8785924	C	T	18	8785926	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.933593861417412	0.74
18	8785925	A	C	18	8785927	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.647051631538428	0.744
18	8785925	A	G	18	8785927	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.880249288316973	0.844
18	8785925	A	T	18	8785927	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.647051631538428	0.688
18	8785926	C	A	18	8785928	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.975013778863617	0.694
18	8785926	C	G	18	8785928	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999932845460273	0.964
18	8785926	C	T	18	8785928	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.156666176530208	0.38
18	8785927	C	A	18	8785929	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.850180287220526	0.54
18	8785927	C	G	18	8785929	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.84314538694957	0.618
18	8785927	C	T	18	8785929	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0121561763556602	0.204
18	8785928	T	A	18	8785930	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.993336081254904	0.78
18	8785928	T	C	18	8785930	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00362701114474861	0.168
18	8785928	T	G	18	8785930	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.991126814744944	0.85
18	8785929	A	C	18	8785931	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.1173471145668E-5	0.016
18	8785929	A	G	18	8785931	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.10595903025963E-4	0.008
18	8785929	A	T	18	8785931	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.8297964148701E-5	0.024
18	8785930	A	C	18	8785932	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0904845430819883	0.348
18	8785930	A	G	18	8785932	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999446909142757	0.94
18	8785930	A	T	18	8785932	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.44794801357293	0.426
18	8785931	C	A	18	8785933	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999981253889503	0.956
18	8785931	C	G	18	8785933	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999983880229116	0.99
18	8785931	C	T	18	8785933	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.995221951341342	0.568
18	8785932	A	C	18	8785934	y	y	splicing	MTCL1(NM_015210:exon7:c.1732-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2812-2A>C;ENST00000517570:exon6:c.1732-2A>C;ENST00000400050:exon7:c.1732-2A>C;ENST00000359865:exon7:c.1732-2A>C;ENST00000520495:exon4:c.1295-2A>C)	.	.	0.999992007541056	0.932
18	8785932	A	G	18	8785934	y	y	splicing	MTCL1(NM_015210:exon7:c.1732-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2812-2A>G;ENST00000517570:exon6:c.1732-2A>G;ENST00000400050:exon7:c.1732-2A>G;ENST00000359865:exon7:c.1732-2A>G;ENST00000520495:exon4:c.1295-2A>G)	.	.	0.999992007541056	0.932
18	8785932	A	T	18	8785934	y	y	splicing	MTCL1(NM_015210:exon7:c.1732-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2812-2A>T;ENST00000517570:exon6:c.1732-2A>T;ENST00000400050:exon7:c.1732-2A>T;ENST00000359865:exon7:c.1732-2A>T;ENST00000520495:exon4:c.1295-2A>T)	.	.	0.999992007541056	0.932
18	8785933	G	A	18	8785935	y	y	splicing	MTCL1(NM_015210:exon7:c.1732-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2812-1G>A;ENST00000517570:exon6:c.1732-1G>A;ENST00000400050:exon7:c.1732-1G>A;ENST00000359865:exon7:c.1732-1G>A;ENST00000520495:exon4:c.1295-1G>A)	.	.	0.999990161071044	0.928
18	8785933	G	C	18	8785935	y	y	splicing	MTCL1(NM_015210:exon7:c.1732-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2812-1G>C;ENST00000517570:exon6:c.1732-1G>C;ENST00000400050:exon7:c.1732-1G>C;ENST00000359865:exon7:c.1732-1G>C;ENST00000520495:exon4:c.1295-1G>C)	.	.	0.999990161071044	0.928
18	8785933	G	T	18	8785935	y	y	splicing	MTCL1(NM_015210:exon7:c.1732-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2812-1G>T;ENST00000517570:exon6:c.1732-1G>T;ENST00000400050:exon7:c.1732-1G>T;ENST00000359865:exon7:c.1732-1G>T;ENST00000520495:exon4:c.1295-1G>T)	.	.	0.999990161071044	0.928
18	8785934	T	A	18	8785936	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.T1732A:p.S578T;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon4:c.T1295A:p.V432D;ENSG00000168502:ENST00000306329:exon6:c.T2812A:p.S938T;ENSG00000168502:ENST00000517570:exon6:c.T1732A:p.S578T;ENSG00000168502:ENST00000400050:exon7:c.T1732A:p.S578T;ENSG00000168502:ENST00000359865:exon7:c.T1732A:p.S578T;	0.0328525179466954	0.342
18	8785934	T	C	18	8785936	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.T1732C:p.S578P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon4:c.T1295C:p.V432A;ENSG00000168502:ENST00000306329:exon6:c.T2812C:p.S938P;ENSG00000168502:ENST00000517570:exon6:c.T1732C:p.S578P;ENSG00000168502:ENST00000400050:exon7:c.T1732C:p.S578P;ENSG00000168502:ENST00000359865:exon7:c.T1732C:p.S578P;	0.215600436725729	0.392
18	8785934	T	G	18	8785936	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.T1732G:p.S578A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon4:c.T1295G:p.V432G;ENSG00000168502:ENST00000306329:exon6:c.T2812G:p.S938A;ENSG00000168502:ENST00000517570:exon6:c.T1732G:p.S578A;ENSG00000168502:ENST00000400050:exon7:c.T1732G:p.S578A;ENSG00000168502:ENST00000359865:exon7:c.T1732G:p.S578A;	0.0312190226747026	0.352
18	8785935	C	A	18	8785937	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.C1733A:p.S578Y;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon6:c.C2813A:p.S938Y;ENSG00000168502:ENST00000517570:exon6:c.C1733A:p.S578Y;ENSG00000168502:ENST00000400050:exon7:c.C1733A:p.S578Y;ENSG00000168502:ENST00000359865:exon7:c.C1733A:p.S578Y;	0.0792878219869342	0.422
18	8785935	C	G	18	8785937	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.C1733G:p.S578C;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon6:c.C2813G:p.S938C;ENSG00000168502:ENST00000517570:exon6:c.C1733G:p.S578C;ENSG00000168502:ENST00000400050:exon7:c.C1733G:p.S578C;ENSG00000168502:ENST00000359865:exon7:c.C1733G:p.S578C;	0.227312399530381	0.502
18	8785935	C	T	18	8785937	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.C1733T:p.S578F;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon6:c.C2813T:p.S938F;ENSG00000168502:ENST00000517570:exon6:c.C1733T:p.S578F;ENSG00000168502:ENST00000400050:exon7:c.C1733T:p.S578F;ENSG00000168502:ENST00000359865:exon7:c.C1733T:p.S578F;	0.200489159607484	0.536
18	8786087	G	A	18	8786089	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.G1885A:p.E629K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon4:c.G1448A:p.G483E;ENSG00000168502:ENST00000306329:exon6:c.G2965A:p.E989K;ENSG00000168502:ENST00000517570:exon6:c.G1885A:p.E629K;ENSG00000168502:ENST00000400050:exon7:c.G1885A:p.E629K;ENSG00000168502:ENST00000359865:exon7:c.G1885A:p.E629K;	0.00416505893242925	0.072
18	8786087	G	C	18	8786089	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.G1885C:p.E629Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon4:c.G1448C:p.G483A;ENSG00000168502:ENST00000306329:exon6:c.G2965C:p.E989Q;ENSG00000168502:ENST00000517570:exon6:c.G1885C:p.E629Q;ENSG00000168502:ENST00000400050:exon7:c.G1885C:p.E629Q;ENSG00000168502:ENST00000359865:exon7:c.G1885C:p.E629Q;	0.00416505893242925	0.036
18	8786087	G	T	18	8786089	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon7:c.G1885T:p.E629X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000306329:exon6:c.G2965T:p.E989X;ENSG00000168502:ENST00000517570:exon6:c.G1885T:p.E629X;ENSG00000168502:ENST00000400050:exon7:c.G1885T:p.E629X;ENSG00000168502:ENST00000359865:exon7:c.G1885T:p.E629X;	0.992157717030048	0.748
18	8786088	A	C	18	8786090	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.A1886C:p.E629A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon6:c.A2966C:p.E989A;ENSG00000168502:ENST00000517570:exon6:c.A1886C:p.E629A;ENSG00000168502:ENST00000400050:exon7:c.A1886C:p.E629A;ENSG00000168502:ENST00000359865:exon7:c.A1886C:p.E629A;	0.999771132994659	0.992
18	8786088	A	G	18	8786090	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.A1886G:p.E629G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon6:c.A2966G:p.E989G;ENSG00000168502:ENST00000517570:exon6:c.A1886G:p.E629G;ENSG00000168502:ENST00000400050:exon7:c.A1886G:p.E629G;ENSG00000168502:ENST00000359865:exon7:c.A1886G:p.E629G;	0.999964963533116	0.998
18	8786088	A	T	18	8786090	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.A1886T:p.E629V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon6:c.A2966T:p.E989V;ENSG00000168502:ENST00000517570:exon6:c.A1886T:p.E629V;ENSG00000168502:ENST00000400050:exon7:c.A1886T:p.E629V;ENSG00000168502:ENST00000359865:exon7:c.A1886T:p.E629V;	0.999975981370447	0.998
18	8786089	G	A	18	8786091	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon7:c.G1887A:p.E629E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon4:c.G1450A:p.D484N;	0.99999111582116	1.0
18	8786089	G	C	18	8786091	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.G1887C:p.E629D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon4:c.G1450C:p.D484H;ENSG00000168502:ENST00000306329:exon6:c.G2967C:p.E989D;ENSG00000168502:ENST00000517570:exon6:c.G1887C:p.E629D;ENSG00000168502:ENST00000400050:exon7:c.G1887C:p.E629D;ENSG00000168502:ENST00000359865:exon7:c.G1887C:p.E629D;	0.999991690766364	0.976
18	8786089	G	T	18	8786091	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon7:c.G1887T:p.E629D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon4:c.G1450T:p.D484Y;ENSG00000168502:ENST00000306329:exon6:c.G2967T:p.E989D;ENSG00000168502:ENST00000517570:exon6:c.G1887T:p.E629D;ENSG00000168502:ENST00000400050:exon7:c.G1887T:p.E629D;ENSG00000168502:ENST00000359865:exon7:c.G1887T:p.E629D;	0.999971490450523	0.992
18	8786090	G	A	18	8786092	y	y	splicing	MTCL1(NM_015210:exon7:c.1887+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2967+1G>A;ENST00000517570:exon6:c.1887+1G>A;ENST00000400050:exon7:c.1887+1G>A;ENST00000359865:exon7:c.1887+1G>A;ENST00000520495:exon4:c.1450+1G>A)	.	.	0.999970768261919	0.938
18	8786090	G	C	18	8786092	y	y	splicing	MTCL1(NM_015210:exon7:c.1887+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2967+1G>C;ENST00000517570:exon6:c.1887+1G>C;ENST00000400050:exon7:c.1887+1G>C;ENST00000359865:exon7:c.1887+1G>C;ENST00000520495:exon4:c.1450+1G>C)	.	.	0.999970768261919	0.932
18	8786090	G	T	18	8786092	y	y	splicing	MTCL1(NM_015210:exon7:c.1887+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2967+1G>T;ENST00000517570:exon6:c.1887+1G>T;ENST00000400050:exon7:c.1887+1G>T;ENST00000359865:exon7:c.1887+1G>T;ENST00000520495:exon4:c.1450+1G>T)	.	.	0.999970768261919	0.938
18	8786091	T	A	18	8786093	y	y	splicing	MTCL1(NM_015210:exon7:c.1887+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2967+2T>A;ENST00000517570:exon6:c.1887+2T>A;ENST00000400050:exon7:c.1887+2T>A;ENST00000359865:exon7:c.1887+2T>A;ENST00000520495:exon4:c.1450+2T>A)	.	.	0.999976254090479	0.936
18	8786091	T	C	18	8786093	y	y	splicing	MTCL1(NM_015210:exon7:c.1887+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2967+2T>C;ENST00000517570:exon6:c.1887+2T>C;ENST00000400050:exon7:c.1887+2T>C;ENST00000359865:exon7:c.1887+2T>C;ENST00000520495:exon4:c.1450+2T>C)	.	.	0.999361049653633	0.892
18	8786091	T	G	18	8786093	y	y	splicing	MTCL1(NM_015210:exon7:c.1887+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon6:c.2967+2T>G;ENST00000517570:exon6:c.1887+2T>G;ENST00000400050:exon7:c.1887+2T>G;ENST00000359865:exon7:c.1887+2T>G;ENST00000520495:exon4:c.1450+2T>G)	.	.	0.99993872479901	0.936
18	8786092	C	A	18	8786094	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.55608720296014E-4	0.11
18	8786092	C	G	18	8786094	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.4033529224953E-4	0.142
18	8786092	C	T	18	8786094	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.45499988517523E-4	0.028
18	8786093	A	C	18	8786095	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.994268220897702	0.812
18	8786093	A	G	18	8786095	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.926791949410761	0.752
18	8786093	A	T	18	8786095	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.985462762024581	0.844
18	8786094	G	A	18	8786096	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999979943597396	1.0
18	8786094	G	C	18	8786096	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999960968889811	0.982
18	8786094	G	T	18	8786096	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99997045371176	0.958
18	8786095	C	A	18	8786097	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.42826035693728E-4	0.006
18	8786095	C	G	18	8786097	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00182722435544444	0.03
18	8786095	C	T	18	8786097	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.97048294864047E-5	0.008
18	8786096	G	A	18	8786098	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.26954946448503E-5	0.0
18	8786096	G	C	18	8786098	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.58653526243519E-5	0.01
18	8786096	G	T	18	8786098	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.86697105138639E-4	0.056
18	8786097	T	A	18	8786099	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.13265907200378E-5	0.0
18	8786097	T	C	18	8786099	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.17010058926017E-5	0.0
18	8786097	T	G	18	8786099	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.17010058926017E-5	0.0
18	8789718	T	A	18	8789720	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.63995423123284E-4	0.0
18	8789718	T	C	18	8789720	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.40940918270023E-4	0.0
18	8789718	T	G	18	8789720	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.40940918270023E-4	0.0
18	8789719	A	C	18	8789721	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.4625450712438E-4	0.006
18	8789719	A	G	18	8789721	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.4625450712438E-4	0.006
18	8789719	A	T	18	8789721	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	2.02947833830437E-4	0.006
18	8789720	G	A	18	8789722	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.39179256655471E-4	0.01
18	8789720	G	C	18	8789722	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.04216853070732E-4	0.01
18	8789720	G	T	18	8789722	n	y	intronic	MTCL1	.	.	UTR5	ENSG00000168502	.	.	1.04216853070732E-4	0.01
18	8789721	G	A	18	8789723	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	1.39179256655471E-4	0.05
18	8789721	G	C	18	8789723	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	1.04216853070732E-4	0.024
18	8789721	G	T	18	8789723	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	1.04216853070732E-4	0.016
18	8789722	T	A	18	8789724	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	2.08024489151061E-4	0.058
18	8789722	T	C	18	8789724	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	3.30146077942541E-4	0.058
18	8789722	T	G	18	8789724	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502	.	.	3.30146077942541E-4	0.064
18	8789723	A	C	18	8789725	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.73401366462724E-4	0.002
18	8789723	A	G	18	8789725	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.73401366462724E-4	0.002
18	8789723	A	T	18	8789725	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.33950268484782E-4	0.004
18	8789724	A	C	18	8789726	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.25211152755068E-5	0.0
18	8789724	A	G	18	8789726	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.25211152755068E-5	0.0
18	8789724	A	T	18	8789726	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.25211152755068E-5	0.0
18	8789725	G	A	18	8789727	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.52521099548755E-5	0.0
18	8789725	G	C	18	8789727	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.66426746904339E-5	0.0
18	8789725	G	T	18	8789727	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.66426746904339E-5	0.0
18	8789726	T	A	18	8789728	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.70373002829532E-4	0.008
18	8789726	T	C	18	8789728	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.83041080521012E-4	0.028
18	8789726	T	G	18	8789728	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.70373002829532E-4	0.054
18	8789727	G	A	18	8789729	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.91836965572762E-4	0.026
18	8789727	G	C	18	8789729	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.39331619859259E-4	0.0
18	8789727	G	T	18	8789729	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.39331619859259E-4	0.0
18	8789728	A	C	18	8789730	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.9469183429777E-5	0.0
18	8789728	A	G	18	8789730	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.9469183429777E-5	0.0
18	8789728	A	T	18	8789730	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.9469183429777E-5	0.0
18	8792984	C	A	18	8792986	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.944560580896711	0.656
18	8792984	C	G	18	8792986	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.941048431968531	0.634
18	8792984	C	T	18	8792986	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.929269015788144	0.71
18	8792985	C	A	18	8792987	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.495423868441362	0.428
18	8792985	C	G	18	8792987	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.406978599991888	0.422
18	8792985	C	T	18	8792987	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.59183234671332	0.66
18	8792986	C	A	18	8792988	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0445649065252126	0.342
18	8792986	C	G	18	8792988	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0164040202132281	0.162
18	8792986	C	T	18	8792988	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0226183486488898	0.368
18	8792987	A	C	18	8792989	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00331858650629165	0.488
18	8792987	A	G	18	8792989	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00188945765509924	0.272
18	8792987	A	T	18	8792989	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00331858650629165	0.478
18	8792988	C	A	18	8792990	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.978163654974657	0.732
18	8792988	C	G	18	8792990	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999954899667069	0.932
18	8792988	C	T	18	8792990	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.202086682947361	0.436
18	8792989	C	A	18	8792991	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999538089288244	0.974
18	8792989	C	G	18	8792991	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0282660262021465	0.302
18	8792989	C	T	18	8792991	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.77432777969632E-5	0.08
18	8792990	G	A	18	8792992	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.03838224483266E-5	0.054
18	8792990	G	C	18	8792992	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.00356678912479E-5	0.0
18	8792990	G	T	18	8792992	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.46143290463878E-5	0.002
18	8792991	A	C	18	8792993	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.55655420614225E-4	0.01
18	8792991	A	G	18	8792993	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.05721672783754E-4	0.012
18	8792991	A	T	18	8792993	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.48792446383759E-4	0.028
18	8792992	T	A	18	8792994	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00131013657926398	0.076
18	8792992	T	C	18	8792994	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.03953224471415E-4	0.006
18	8792992	T	G	18	8792994	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.674478664991876	0.57
18	8792993	C	A	18	8792995	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999756397504727	0.956
18	8792993	C	G	18	8792995	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999895888524518	0.95
18	8792993	C	T	18	8792995	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.474283800058743	0.348
18	8792994	A	C	18	8792996	y	y	splicing	MTCL1(NM_015210:exon8:c.1888-2A>C)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.1888-2A>C)	.	.	0.99995093252474	0.908
18	8792994	A	G	18	8792996	y	y	splicing	MTCL1(NM_015210:exon8:c.1888-2A>G)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.1888-2A>G)	.	.	0.99995093252474	0.908
18	8792994	A	T	18	8792996	y	y	splicing	MTCL1(NM_015210:exon8:c.1888-2A>T)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.1888-2A>T)	.	.	0.99995093252474	0.908
18	8792995	G	A	18	8792997	y	y	splicing	MTCL1(NM_015210:exon8:c.1888-1G>A)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.1888-1G>A)	.	.	0.999910204083438	0.906
18	8792995	G	C	18	8792997	y	y	splicing	MTCL1(NM_015210:exon8:c.1888-1G>C)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.1888-1G>C)	.	.	0.999910204083438	0.906
18	8792995	G	T	18	8792997	y	y	splicing	MTCL1(NM_015210:exon8:c.1888-1G>T)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.1888-1G>T)	.	.	0.999910204083438	0.906
18	8792996	C	A	18	8792998	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.C1888A:p.L630I;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.C1888A:p.L630I;	0.877599968356552	0.612
18	8792996	C	G	18	8792998	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.C1888G:p.L630V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.C1888G:p.L630V;	0.949896915170117	0.602
18	8792996	C	T	18	8792998	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.C1888T:p.L630F;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.C1888T:p.L630F;	0.994443014840213	0.906
18	8792997	T	A	18	8792999	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.T1889A:p.L630H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.T1889A:p.L630H;	0.272236614787521	0.43
18	8792997	T	C	18	8792999	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.T1889C:p.L630P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.T1889C:p.L630P;	0.225557748158071	0.434
18	8792997	T	G	18	8792999	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.T1889G:p.L630R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.T1889G:p.L630R;	0.186708946602635	0.422
18	8793116	A	C	18	8793118	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.A2008C:p.K670Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.A2008C:p.K670Q;	6.90433409715298E-5	0.014
18	8793116	A	G	18	8793118	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.A2008G:p.K670E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.A2008G:p.K670E;	0.00622701676007455	0.03
18	8793116	A	T	18	8793118	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon8:c.A2008T:p.K670X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000359865:exon8:c.A2008T:p.K670X;	0.331557494301583	0.544
18	8793117	A	C	18	8793119	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.A2009C:p.K670T;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.A2009C:p.K670T;	0.382771245490785	0.584
18	8793117	A	G	18	8793119	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.A2009G:p.K670R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.A2009G:p.K670R;	0.824707981280356	0.632
18	8793117	A	T	18	8793119	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.A2009T:p.K670M;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.A2009T:p.K670M;	0.955823358901465	0.66
18	8793118	G	A	18	8793120	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon8:c.G2010A:p.K670K;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.G2010A:p.K670K;	0.99705226085271	0.972
18	8793118	G	C	18	8793120	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.G2010C:p.K670N;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.G2010C:p.K670N;	0.999981450981299	0.978
18	8793118	G	T	18	8793120	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon8:c.G2010T:p.K670N;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000359865:exon8:c.G2010T:p.K670N;	0.999751391688768	0.946
18	8793119	G	A	18	8793121	y	y	splicing	MTCL1(NM_015210:exon8:c.2010+1G>A)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.2010+1G>A)	.	.	0.999986675681007	0.934
18	8793119	G	C	18	8793121	y	y	splicing	MTCL1(NM_015210:exon8:c.2010+1G>C)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.2010+1G>C)	.	.	0.999986675681007	0.934
18	8793119	G	T	18	8793121	y	y	splicing	MTCL1(NM_015210:exon8:c.2010+1G>T)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.2010+1G>T)	.	.	0.999986675681007	0.934
18	8793120	T	A	18	8793122	y	y	splicing	MTCL1(NM_015210:exon8:c.2010+2T>A)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.2010+2T>A)	.	.	0.999989917668626	0.928
18	8793120	T	C	18	8793122	y	y	splicing	MTCL1(NM_015210:exon8:c.2010+2T>C)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.2010+2T>C)	.	.	0.991781671885672	0.608
18	8793120	T	G	18	8793122	y	y	splicing	MTCL1(NM_015210:exon8:c.2010+2T>G)	.	.	splicing	ENSG00000168502(ENST00000359865:exon8:c.2010+2T>G)	.	.	0.999989917668626	0.928
18	8793121	A	C	18	8793123	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.991970034353608	0.786
18	8793121	A	G	18	8793123	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.169897610779501	0.528
18	8793121	A	T	18	8793123	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.958313698815128	0.652
18	8793122	A	C	18	8793124	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.984929740581897	0.816
18	8793122	A	G	18	8793124	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.995643313310801	0.8
18	8793122	A	T	18	8793124	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.989879745915495	0.822
18	8793123	A	C	18	8793125	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.14263417122122E-4	0.054
18	8793123	A	G	18	8793125	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.46381459091313E-4	0.032
18	8793123	A	T	18	8793125	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00172563303016504	0.048
18	8793124	T	A	18	8793126	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0399032508612363	0.272
18	8793124	T	C	18	8793126	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0532248898762651	0.324
18	8793124	T	G	18	8793126	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.013742079162779	0.23
18	8793125	A	C	18	8793127	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.35658515895286E-4	0.0
18	8793125	A	G	18	8793127	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.0144404743025E-4	0.0
18	8793125	A	T	18	8793127	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.72672013370539E-4	0.0
18	8793126	T	A	18	8793128	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.09562936375766E-4	0.052
18	8793126	T	C	18	8793128	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.9920955617261E-4	0.004
18	8793126	T	G	18	8793128	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.07014656885049E-4	0.0
18	8796218	A	C	18	8796220	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.48627188924813E-6	0.0
18	8796218	A	G	18	8796220	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.67914700497896E-5	0.024
18	8796218	A	T	18	8796220	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.1030209040341E-5	0.002
18	8796219	T	A	18	8796221	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.50145030069039	0.678
18	8796219	T	C	18	8796221	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0794550487933984	0.368
18	8796219	T	G	18	8796221	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999870317379954	0.962
18	8796220	T	A	18	8796222	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0173487745136041	0.348
18	8796220	T	C	18	8796222	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00685064594044687	0.128
18	8796220	T	G	18	8796222	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.132597523029878	0.386
18	8796221	C	A	18	8796223	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00457195007971064	0.07
18	8796221	C	G	18	8796223	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.5684978691564E-4	0.08
18	8796221	C	T	18	8796223	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.33444665439377E-5	0.032
18	8796222	C	A	18	8796224	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.34775495186846E-4	0.104
18	8796222	C	G	18	8796224	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.16323604522047E-4	0.056
18	8796222	C	T	18	8796224	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.07124940006718E-5	0.002
18	8796223	A	C	18	8796225	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.77983315072629E-5	0.008
18	8796223	A	G	18	8796225	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.59093764470262E-5	0.0
18	8796223	A	T	18	8796225	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.57425113233739E-5	0.004
18	8796224	T	A	18	8796226	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.209510455865177	0.378
18	8796224	T	C	18	8796226	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.89199046731047E-4	0.104
18	8796224	T	G	18	8796226	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999546376708099	0.97
18	8796225	T	A	18	8796227	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.963046877914176	0.564
18	8796225	T	C	18	8796227	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0112885527584016	0.32
18	8796225	T	G	18	8796227	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.763087245649482	0.488
18	8796226	C	A	18	8796228	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.51068468686887E-5	0.01
18	8796226	C	G	18	8796228	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.59917151969288E-4	0.024
18	8796226	C	T	18	8796228	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.70702026964134E-5	0.01
18	8796227	A	C	18	8796229	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.77312389928905E-4	0.044
18	8796227	A	G	18	8796229	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0211942838236453	0.202
18	8796227	A	T	18	8796229	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.7485469169334E-4	0.028
18	8796228	A	C	18	8796230	y	y	splicing	MTCL1(NM_015210:exon9:c.2011-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.2968-2A>C;ENST00000517570:exon7:c.1888-2A>C;ENST00000400050:exon8:c.1888-2A>C;ENST00000359865:exon9:c.2011-2A>C;ENST00000520495:exon5:c.1451-2A>C)	.	.	0.999986741007567	0.946
18	8796228	A	G	18	8796230	y	y	splicing	MTCL1(NM_015210:exon9:c.2011-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.2968-2A>G;ENST00000517570:exon7:c.1888-2A>G;ENST00000400050:exon8:c.1888-2A>G;ENST00000359865:exon9:c.2011-2A>G;ENST00000520495:exon5:c.1451-2A>G)	.	.	0.999986741007567	0.946
18	8796228	A	T	18	8796230	y	y	splicing	MTCL1(NM_015210:exon9:c.2011-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.2968-2A>T;ENST00000517570:exon7:c.1888-2A>T;ENST00000400050:exon8:c.1888-2A>T;ENST00000359865:exon9:c.2011-2A>T;ENST00000520495:exon5:c.1451-2A>T)	.	.	0.999986741007567	0.946
18	8796229	G	A	18	8796231	y	y	splicing	MTCL1(NM_015210:exon9:c.2011-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.2968-1G>A;ENST00000517570:exon7:c.1888-1G>A;ENST00000400050:exon8:c.1888-1G>A;ENST00000359865:exon9:c.2011-1G>A;ENST00000520495:exon5:c.1451-1G>A)	.	.	0.999989125585301	0.944
18	8796229	G	C	18	8796231	y	y	splicing	MTCL1(NM_015210:exon9:c.2011-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.2968-1G>C;ENST00000517570:exon7:c.1888-1G>C;ENST00000400050:exon8:c.1888-1G>C;ENST00000359865:exon9:c.2011-1G>C;ENST00000520495:exon5:c.1451-1G>C)	.	.	0.999989125585301	0.944
18	8796229	G	T	18	8796231	y	y	splicing	MTCL1(NM_015210:exon9:c.2011-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.2968-1G>T;ENST00000517570:exon7:c.1888-1G>T;ENST00000400050:exon8:c.1888-1G>T;ENST00000359865:exon9:c.2011-1G>T;ENST00000520495:exon5:c.1451-1G>T)	.	.	0.999989125585301	0.944
18	8796230	A	C	18	8796232	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.A2011C:p.M671L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon5:c.A1451C:p.D484A;ENSG00000168502:ENST00000306329:exon7:c.A2968C:p.M990L;ENSG00000168502:ENST00000517570:exon7:c.A1888C:p.M630L;ENSG00000168502:ENST00000400050:exon8:c.A1888C:p.M630L;ENSG00000168502:ENST00000359865:exon9:c.A2011C:p.M671L;	0.00271543721088381	0.102
18	8796230	A	G	18	8796232	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.A2011G:p.M671V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon5:c.A1451G:p.D484G;ENSG00000168502:ENST00000306329:exon7:c.A2968G:p.M990V;ENSG00000168502:ENST00000517570:exon7:c.A1888G:p.M630V;ENSG00000168502:ENST00000400050:exon8:c.A1888G:p.M630V;ENSG00000168502:ENST00000359865:exon9:c.A2011G:p.M671V;	1.78696764777028E-4	0.0
18	8796230	A	T	18	8796232	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.A2011T:p.M671L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon5:c.A1451T:p.D484V;ENSG00000168502:ENST00000306329:exon7:c.A2968T:p.M990L;ENSG00000168502:ENST00000517570:exon7:c.A1888T:p.M630L;ENSG00000168502:ENST00000400050:exon8:c.A1888T:p.M630L;ENSG00000168502:ENST00000359865:exon9:c.A2011T:p.M671L;	0.00597586055735072	0.106
18	8796231	T	A	18	8796233	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.T2012A:p.M671K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon5:c.T1452A:p.D484E;ENSG00000168502:ENST00000306329:exon7:c.T2969A:p.M990K;ENSG00000168502:ENST00000517570:exon7:c.T1889A:p.M630K;ENSG00000168502:ENST00000400050:exon8:c.T1889A:p.M630K;ENSG00000168502:ENST00000359865:exon9:c.T2012A:p.M671K;	0.0186615647179463	0.258
18	8796231	T	C	18	8796233	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.T2012C:p.M671T;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon7:c.T2969C:p.M990T;ENSG00000168502:ENST00000517570:exon7:c.T1889C:p.M630T;ENSG00000168502:ENST00000400050:exon8:c.T1889C:p.M630T;ENSG00000168502:ENST00000359865:exon9:c.T2012C:p.M671T;	0.0148224674413156	0.162
18	8796231	T	G	18	8796233	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.T2012G:p.M671R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000520495:exon5:c.T1452G:p.D484E;ENSG00000168502:ENST00000306329:exon7:c.T2969G:p.M990R;ENSG00000168502:ENST00000517570:exon7:c.T1889G:p.M630R;ENSG00000168502:ENST00000400050:exon8:c.T1889G:p.M630R;ENSG00000168502:ENST00000359865:exon9:c.T2012G:p.M671R;	0.0136995933924877	0.192
18	8796458	G	A	18	8796460	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.G2239A:p.E747K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon2:c.G184A:p.E62K;ENSG00000168502:ENST00000306329:exon7:c.G3196A:p.E1066K;ENSG00000168502:ENST00000517570:exon7:c.G2116A:p.E706K;ENSG00000168502:ENST00000306285:exon9:c.G184A:p.E62K;ENSG00000168502:ENST00000400050:exon8:c.G2116A:p.E706K;ENSG00000168502:ENST00000359865:exon9:c.G2239A:p.E747K;	0.0169026582229931	0.224
18	8796458	G	C	18	8796460	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.G2239C:p.E747Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon2:c.G184C:p.E62Q;ENSG00000168502:ENST00000306329:exon7:c.G3196C:p.E1066Q;ENSG00000168502:ENST00000517570:exon7:c.G2116C:p.E706Q;ENSG00000168502:ENST00000306285:exon9:c.G184C:p.E62Q;ENSG00000168502:ENST00000400050:exon8:c.G2116C:p.E706Q;ENSG00000168502:ENST00000359865:exon9:c.G2239C:p.E747Q;	7.6789975936562E-4	0.01
18	8796458	G	T	18	8796460	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon9:c.G2239T:p.E747X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon2:c.G184T:p.E62X;ENSG00000168502:ENST00000306329:exon7:c.G3196T:p.E1066X;ENSG00000168502:ENST00000517570:exon7:c.G2116T:p.E706X;ENSG00000168502:ENST00000306285:exon9:c.G184T:p.E62X;ENSG00000168502:ENST00000400050:exon8:c.G2116T:p.E706X;ENSG00000168502:ENST00000359865:exon9:c.G2239T:p.E747X;	0.464616244427776	0.492
18	8796459	A	C	18	8796461	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.A2240C:p.E747A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon2:c.A185C:p.E62A;ENSG00000168502:ENST00000306329:exon7:c.A3197C:p.E1066A;ENSG00000168502:ENST00000517570:exon7:c.A2117C:p.E706A;ENSG00000168502:ENST00000306285:exon9:c.A185C:p.E62A;ENSG00000168502:ENST00000400050:exon8:c.A2117C:p.E706A;ENSG00000168502:ENST00000359865:exon9:c.A2240C:p.E747A;	0.996986698716766	0.864
18	8796459	A	G	18	8796461	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.A2240G:p.E747G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon2:c.A185G:p.E62G;ENSG00000168502:ENST00000306329:exon7:c.A3197G:p.E1066G;ENSG00000168502:ENST00000517570:exon7:c.A2117G:p.E706G;ENSG00000168502:ENST00000306285:exon9:c.A185G:p.E62G;ENSG00000168502:ENST00000400050:exon8:c.A2117G:p.E706G;ENSG00000168502:ENST00000359865:exon9:c.A2240G:p.E747G;	0.999617831443326	0.966
18	8796459	A	T	18	8796461	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.A2240T:p.E747V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon2:c.A185T:p.E62V;ENSG00000168502:ENST00000306329:exon7:c.A3197T:p.E1066V;ENSG00000168502:ENST00000517570:exon7:c.A2117T:p.E706V;ENSG00000168502:ENST00000306285:exon9:c.A185T:p.E62V;ENSG00000168502:ENST00000400050:exon8:c.A2117T:p.E706V;ENSG00000168502:ENST00000359865:exon9:c.A2240T:p.E747V;	0.999790297839148	0.998
18	8796460	G	A	18	8796462	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon9:c.G2241A:p.E747E;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon2:c.G186A:p.E62E;ENSG00000168502:ENST00000306329:exon7:c.G3198A:p.E1066E;ENSG00000168502:ENST00000517570:exon7:c.G2118A:p.E706E;ENSG00000168502:ENST00000306285:exon9:c.G186A:p.E62E;ENSG00000168502:ENST00000400050:exon8:c.G2118A:p.E706E;ENSG00000168502:ENST00000359865:exon9:c.G2241A:p.E747E;	0.999703061174251	0.968
18	8796460	G	C	18	8796462	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.G2241C:p.E747D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon2:c.G186C:p.E62D;ENSG00000168502:ENST00000306329:exon7:c.G3198C:p.E1066D;ENSG00000168502:ENST00000517570:exon7:c.G2118C:p.E706D;ENSG00000168502:ENST00000306285:exon9:c.G186C:p.E62D;ENSG00000168502:ENST00000400050:exon8:c.G2118C:p.E706D;ENSG00000168502:ENST00000359865:exon9:c.G2241C:p.E747D;	0.999990386118594	0.94
18	8796460	G	T	18	8796462	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon9:c.G2241T:p.E747D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon2:c.G186T:p.E62D;ENSG00000168502:ENST00000306329:exon7:c.G3198T:p.E1066D;ENSG00000168502:ENST00000517570:exon7:c.G2118T:p.E706D;ENSG00000168502:ENST00000306285:exon9:c.G186T:p.E62D;ENSG00000168502:ENST00000400050:exon8:c.G2118T:p.E706D;ENSG00000168502:ENST00000359865:exon9:c.G2241T:p.E747D;	0.999977368360526	0.988
18	8796461	G	A	18	8796463	y	y	splicing	MTCL1(NM_015210:exon9:c.2241+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.3198+1G>A;ENST00000517570:exon7:c.2118+1G>A;ENST00000306285:exon9:c.186+1G>A;ENST00000400050:exon8:c.2118+1G>A;ENST00000359865:exon9:c.2241+1G>A;ENST00000520495:exon5:c.1681+1G>A;ENST00000518815:exon2:c.186+1G>A)	.	.	0.99995545544995	0.948
18	8796461	G	C	18	8796463	y	y	splicing	MTCL1(NM_015210:exon9:c.2241+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.3198+1G>C;ENST00000517570:exon7:c.2118+1G>C;ENST00000306285:exon9:c.186+1G>C;ENST00000400050:exon8:c.2118+1G>C;ENST00000359865:exon9:c.2241+1G>C;ENST00000520495:exon5:c.1681+1G>C;ENST00000518815:exon2:c.186+1G>C)	.	.	0.99995586615188	0.946
18	8796461	G	T	18	8796463	y	y	splicing	MTCL1(NM_015210:exon9:c.2241+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.3198+1G>T;ENST00000517570:exon7:c.2118+1G>T;ENST00000306285:exon9:c.186+1G>T;ENST00000400050:exon8:c.2118+1G>T;ENST00000359865:exon9:c.2241+1G>T;ENST00000520495:exon5:c.1681+1G>T;ENST00000518815:exon2:c.186+1G>T)	.	.	0.99995586615188	0.948
18	8796462	T	A	18	8796464	y	y	splicing	MTCL1(NM_015210:exon9:c.2241+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.3198+2T>A;ENST00000517570:exon7:c.2118+2T>A;ENST00000306285:exon9:c.186+2T>A;ENST00000400050:exon8:c.2118+2T>A;ENST00000359865:exon9:c.2241+2T>A;ENST00000520495:exon5:c.1681+2T>A;ENST00000518815:exon2:c.186+2T>A)	.	.	0.999946188727699	0.948
18	8796462	T	C	18	8796464	y	y	splicing	MTCL1(NM_015210:exon9:c.2241+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.3198+2T>C;ENST00000517570:exon7:c.2118+2T>C;ENST00000306285:exon9:c.186+2T>C;ENST00000400050:exon8:c.2118+2T>C;ENST00000359865:exon9:c.2241+2T>C;ENST00000520495:exon5:c.1681+2T>C;ENST00000518815:exon2:c.186+2T>C)	.	.	0.966764544512804	0.672
18	8796462	T	G	18	8796464	y	y	splicing	MTCL1(NM_015210:exon9:c.2241+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon7:c.3198+2T>G;ENST00000517570:exon7:c.2118+2T>G;ENST00000306285:exon9:c.186+2T>G;ENST00000400050:exon8:c.2118+2T>G;ENST00000359865:exon9:c.2241+2T>G;ENST00000520495:exon5:c.1681+2T>G;ENST00000518815:exon2:c.186+2T>G)	.	.	0.999946188727699	0.934
18	8796463	A	C	18	8796465	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.995472739498502	0.812
18	8796463	A	G	18	8796465	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.335716477072117	0.548
18	8796463	A	T	18	8796465	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999059302732345	0.748
18	8796464	A	C	18	8796466	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.405094102911893	0.36
18	8796464	A	G	18	8796466	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.286583453977825	0.382
18	8796464	A	T	18	8796466	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.101043074450406	0.326
18	8796465	C	A	18	8796467	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.65377043666788E-5	0.006
18	8796465	C	G	18	8796467	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.02522553792197E-5	0.072
18	8796465	C	T	18	8796467	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.09838988005945E-5	0.0
18	8796466	T	A	18	8796468	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0161492116897451	0.172
18	8796466	T	C	18	8796468	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00431664772738378	0.128
18	8796466	T	G	18	8796468	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.94204386408857E-4	0.126
18	8796467	C	A	18	8796469	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.09854736279094E-4	0.002
18	8796467	C	G	18	8796469	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.98063375735432E-4	0.002
18	8796467	C	T	18	8796469	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.77055902911844E-4	0.01
18	8796468	C	A	18	8796470	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.73659410988803E-5	0.0
18	8796468	C	G	18	8796470	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.66985215320653E-4	0.0
18	8796468	C	T	18	8796470	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.73500752263833E-5	0.0
18	8798083	T	A	18	8798085	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999504082901078	0.942
18	8798083	T	C	18	8798085	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.50958037950643E-4	0.0
18	8798083	T	G	18	8798085	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.122960520558968	0.428
18	8798084	G	A	18	8798086	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.41905794141746E-4	0.0
18	8798084	G	C	18	8798086	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.2145865835313E-5	0.0
18	8798084	G	T	18	8798086	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.301471743344E-5	0.0
18	8798085	C	A	18	8798087	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00879165467267605	0.198
18	8798085	C	G	18	8798087	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0129766155641539	0.186
18	8798085	C	T	18	8798087	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.04013884937259E-4	0.014
18	8798086	C	A	18	8798088	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.35944362862756E-4	0.05
18	8798086	C	G	18	8798088	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.79175582497577E-4	0.016
18	8798086	C	T	18	8798088	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.44934609814119E-6	0.012
18	8798087	T	A	18	8798089	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99869460715043	0.988
18	8798087	T	C	18	8798089	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.13779060131299E-6	0.0
18	8798087	T	G	18	8798089	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00102378844872105	0.114
18	8798088	G	A	18	8798090	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.61036809466295E-5	0.008
18	8798088	G	C	18	8798090	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.78744224851368E-5	0.032
18	8798088	G	T	18	8798090	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.80454135531654E-5	0.024
18	8798089	T	A	18	8798091	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.179743786771454	0.42
18	8798089	T	C	18	8798091	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.14475068622836E-4	0.054
18	8798089	T	G	18	8798091	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.28622198735606	0.508
18	8798090	T	A	18	8798092	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.934146835364522	0.592
18	8798090	T	C	18	8798092	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0229619338596371	0.186
18	8798090	T	G	18	8798092	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.869180326450306	0.59
18	8798091	T	A	18	8798093	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.60071954325075E-4	0.008
18	8798091	T	C	18	8798093	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.42610948028255E-4	0.0
18	8798091	T	G	18	8798093	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.71531772051583E-4	0.002
18	8798092	C	A	18	8798094	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.105617415098394	0.386
18	8798092	C	G	18	8798094	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999833084644803	0.988
18	8798092	C	T	18	8798094	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.89035718361475E-4	0.042
18	8798093	A	C	18	8798095	y	y	splicing	MTCL1(NM_015210:exon10:c.2242-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3199-2A>C;ENST00000517570:exon8:c.2119-2A>C;ENST00000306285:exon10:c.187-2A>C;ENST00000400050:exon9:c.2119-2A>C;ENST00000359865:exon10:c.2242-2A>C;ENST00000520495:exon6:c.1682-2A>C;ENST00000518815:exon3:c.187-2A>C)	.	.	0.999946188727699	0.94
18	8798093	A	G	18	8798095	y	y	splicing	MTCL1(NM_015210:exon10:c.2242-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3199-2A>G;ENST00000517570:exon8:c.2119-2A>G;ENST00000306285:exon10:c.187-2A>G;ENST00000400050:exon9:c.2119-2A>G;ENST00000359865:exon10:c.2242-2A>G;ENST00000520495:exon6:c.1682-2A>G;ENST00000518815:exon3:c.187-2A>G)	.	.	0.999946188727699	0.94
18	8798093	A	T	18	8798095	y	y	splicing	MTCL1(NM_015210:exon10:c.2242-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3199-2A>T;ENST00000517570:exon8:c.2119-2A>T;ENST00000306285:exon10:c.187-2A>T;ENST00000400050:exon9:c.2119-2A>T;ENST00000359865:exon10:c.2242-2A>T;ENST00000520495:exon6:c.1682-2A>T;ENST00000518815:exon3:c.187-2A>T)	.	.	0.999946188727699	0.932
18	8798094	G	A	18	8798096	y	y	splicing	MTCL1(NM_015210:exon10:c.2242-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3199-1G>A;ENST00000517570:exon8:c.2119-1G>A;ENST00000306285:exon10:c.187-1G>A;ENST00000400050:exon9:c.2119-1G>A;ENST00000359865:exon10:c.2242-1G>A;ENST00000520495:exon6:c.1682-1G>A;ENST00000518815:exon3:c.187-1G>A)	.	.	0.999933757597683	0.948
18	8798094	G	C	18	8798096	y	y	splicing	MTCL1(NM_015210:exon10:c.2242-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3199-1G>C;ENST00000517570:exon8:c.2119-1G>C;ENST00000306285:exon10:c.187-1G>C;ENST00000400050:exon9:c.2119-1G>C;ENST00000359865:exon10:c.2242-1G>C;ENST00000520495:exon6:c.1682-1G>C;ENST00000518815:exon3:c.187-1G>C)	.	.	0.999933757597683	0.938
18	8798094	G	T	18	8798096	y	y	splicing	MTCL1(NM_015210:exon10:c.2242-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3199-1G>T;ENST00000517570:exon8:c.2119-1G>T;ENST00000306285:exon10:c.187-1G>T;ENST00000400050:exon9:c.2119-1G>T;ENST00000359865:exon10:c.2242-1G>T;ENST00000520495:exon6:c.1682-1G>T;ENST00000518815:exon3:c.187-1G>T)	.	.	0.999933757597683	0.946
18	8798095	G	A	18	8798097	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.G2242A:p.G748S;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G187A:p.G63S;ENSG00000168502:ENST00000306329:exon8:c.G3199A:p.G1067S;ENSG00000168502:ENST00000517570:exon8:c.G2119A:p.G707S;ENSG00000168502:ENST00000306285:exon10:c.G187A:p.G63S;ENSG00000168502:ENST00000400050:exon9:c.G2119A:p.G707S;ENSG00000168502:ENST00000359865:exon10:c.G2242A:p.G748S;	2.82005263428548E-4	0.206
18	8798095	G	C	18	8798097	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.G2242C:p.G748R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G187C:p.G63R;ENSG00000168502:ENST00000306329:exon8:c.G3199C:p.G1067R;ENSG00000168502:ENST00000517570:exon8:c.G2119C:p.G707R;ENSG00000168502:ENST00000306285:exon10:c.G187C:p.G63R;ENSG00000168502:ENST00000400050:exon9:c.G2119C:p.G707R;ENSG00000168502:ENST00000359865:exon10:c.G2242C:p.G748R;	0.00993265615741537	0.322
18	8798095	G	T	18	8798097	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.G2242T:p.G748C;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G187T:p.G63C;ENSG00000168502:ENST00000306329:exon8:c.G3199T:p.G1067C;ENSG00000168502:ENST00000517570:exon8:c.G2119T:p.G707C;ENSG00000168502:ENST00000306285:exon10:c.G187T:p.G63C;ENSG00000168502:ENST00000400050:exon9:c.G2119T:p.G707C;ENSG00000168502:ENST00000359865:exon10:c.G2242T:p.G748C;	0.362961594002575	0.636
18	8798096	G	A	18	8798098	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.G2243A:p.G748D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G188A:p.G63D;ENSG00000168502:ENST00000306329:exon8:c.G3200A:p.G1067D;ENSG00000168502:ENST00000517570:exon8:c.G2120A:p.G707D;ENSG00000168502:ENST00000306285:exon10:c.G188A:p.G63D;ENSG00000168502:ENST00000400050:exon9:c.G2120A:p.G707D;ENSG00000168502:ENST00000359865:exon10:c.G2243A:p.G748D;	1.56954392048373E-4	0.062
18	8798096	G	C	18	8798098	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.G2243C:p.G748A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G188C:p.G63A;ENSG00000168502:ENST00000306329:exon8:c.G3200C:p.G1067A;ENSG00000168502:ENST00000517570:exon8:c.G2120C:p.G707A;ENSG00000168502:ENST00000306285:exon10:c.G188C:p.G63A;ENSG00000168502:ENST00000400050:exon9:c.G2120C:p.G707A;ENSG00000168502:ENST00000359865:exon10:c.G2243C:p.G748A;	8.88200875599601E-5	0.082
18	8798096	G	T	18	8798098	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.G2243T:p.G748V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G188T:p.G63V;ENSG00000168502:ENST00000306329:exon8:c.G3200T:p.G1067V;ENSG00000168502:ENST00000517570:exon8:c.G2120T:p.G707V;ENSG00000168502:ENST00000306285:exon10:c.G188T:p.G63V;ENSG00000168502:ENST00000400050:exon9:c.G2120T:p.G707V;ENSG00000168502:ENST00000359865:exon10:c.G2243T:p.G748V;	1.04857960781659E-4	0.042
18	8798287	C	A	18	8798289	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.C2434A:p.Q812K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.C379A:p.Q127K;ENSG00000168502:ENST00000306329:exon8:c.C3391A:p.Q1131K;ENSG00000168502:ENST00000517570:exon8:c.C2311A:p.Q771K;ENSG00000168502:ENST00000306285:exon10:c.C379A:p.Q127K;ENSG00000168502:ENST00000400050:exon9:c.C2311A:p.Q771K;ENSG00000168502:ENST00000359865:exon10:c.C2434A:p.Q812K;	0.00880641016052705	0.166
18	8798287	C	G	18	8798289	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.C2434G:p.Q812E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.C379G:p.Q127E;ENSG00000168502:ENST00000306329:exon8:c.C3391G:p.Q1131E;ENSG00000168502:ENST00000517570:exon8:c.C2311G:p.Q771E;ENSG00000168502:ENST00000306285:exon10:c.C379G:p.Q127E;ENSG00000168502:ENST00000400050:exon9:c.C2311G:p.Q771E;ENSG00000168502:ENST00000359865:exon10:c.C2434G:p.Q812E;	0.0234911931723379	0.262
18	8798287	C	T	18	8798289	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon10:c.C2434T:p.Q812X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon3:c.C379T:p.Q127X;ENSG00000168502:ENST00000306329:exon8:c.C3391T:p.Q1131X;ENSG00000168502:ENST00000517570:exon8:c.C2311T:p.Q771X;ENSG00000168502:ENST00000306285:exon10:c.C379T:p.Q127X;ENSG00000168502:ENST00000400050:exon9:c.C2311T:p.Q771X;ENSG00000168502:ENST00000359865:exon10:c.C2434T:p.Q812X;	0.997561658709719	0.894
18	8798288	A	C	18	8798290	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.A2435C:p.Q812P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.A380C:p.Q127P;ENSG00000168502:ENST00000306329:exon8:c.A3392C:p.Q1131P;ENSG00000168502:ENST00000517570:exon8:c.A2312C:p.Q771P;ENSG00000168502:ENST00000306285:exon10:c.A380C:p.Q127P;ENSG00000168502:ENST00000400050:exon9:c.A2312C:p.Q771P;ENSG00000168502:ENST00000359865:exon10:c.A2435C:p.Q812P;	0.412253650207957	0.518
18	8798288	A	G	18	8798290	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.A2435G:p.Q812R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.A380G:p.Q127R;ENSG00000168502:ENST00000306329:exon8:c.A3392G:p.Q1131R;ENSG00000168502:ENST00000517570:exon8:c.A2312G:p.Q771R;ENSG00000168502:ENST00000306285:exon10:c.A380G:p.Q127R;ENSG00000168502:ENST00000400050:exon9:c.A2312G:p.Q771R;ENSG00000168502:ENST00000359865:exon10:c.A2435G:p.Q812R;	0.933356988264428	0.652
18	8798288	A	T	18	8798290	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.A2435T:p.Q812L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.A380T:p.Q127L;ENSG00000168502:ENST00000306329:exon8:c.A3392T:p.Q1131L;ENSG00000168502:ENST00000517570:exon8:c.A2312T:p.Q771L;ENSG00000168502:ENST00000306285:exon10:c.A380T:p.Q127L;ENSG00000168502:ENST00000400050:exon9:c.A2312T:p.Q771L;ENSG00000168502:ENST00000359865:exon10:c.A2435T:p.Q812L;	0.985950789997767	0.924
18	8798289	G	A	18	8798291	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon10:c.G2436A:p.Q812Q;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G381A:p.Q127Q;ENSG00000168502:ENST00000306329:exon8:c.G3393A:p.Q1131Q;ENSG00000168502:ENST00000517570:exon8:c.G2313A:p.Q771Q;ENSG00000168502:ENST00000306285:exon10:c.G381A:p.Q127Q;ENSG00000168502:ENST00000400050:exon9:c.G2313A:p.Q771Q;ENSG00000168502:ENST00000359865:exon10:c.G2436A:p.Q812Q;	0.999855618165004	0.988
18	8798289	G	C	18	8798291	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.G2436C:p.Q812H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G381C:p.Q127H;ENSG00000168502:ENST00000306329:exon8:c.G3393C:p.Q1131H;ENSG00000168502:ENST00000517570:exon8:c.G2313C:p.Q771H;ENSG00000168502:ENST00000306285:exon10:c.G381C:p.Q127H;ENSG00000168502:ENST00000400050:exon9:c.G2313C:p.Q771H;ENSG00000168502:ENST00000359865:exon10:c.G2436C:p.Q812H;	0.999994087848409	0.994
18	8798289	G	T	18	8798291	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon10:c.G2436T:p.Q812H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon3:c.G381T:p.Q127H;ENSG00000168502:ENST00000306329:exon8:c.G3393T:p.Q1131H;ENSG00000168502:ENST00000517570:exon8:c.G2313T:p.Q771H;ENSG00000168502:ENST00000306285:exon10:c.G381T:p.Q127H;ENSG00000168502:ENST00000400050:exon9:c.G2313T:p.Q771H;ENSG00000168502:ENST00000359865:exon10:c.G2436T:p.Q812H;	0.999986177567164	1.0
18	8798290	G	A	18	8798292	y	y	splicing	MTCL1(NM_015210:exon10:c.2436+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3393+1G>A;ENST00000517570:exon8:c.2313+1G>A;ENST00000306285:exon10:c.381+1G>A;ENST00000400050:exon9:c.2313+1G>A;ENST00000359865:exon10:c.2436+1G>A;ENST00000520495:exon6:c.1876+1G>A;ENST00000518815:exon3:c.381+1G>A)	.	.	0.99993314117114	0.948
18	8798290	G	C	18	8798292	y	y	splicing	MTCL1(NM_015210:exon10:c.2436+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3393+1G>C;ENST00000517570:exon8:c.2313+1G>C;ENST00000306285:exon10:c.381+1G>C;ENST00000400050:exon9:c.2313+1G>C;ENST00000359865:exon10:c.2436+1G>C;ENST00000520495:exon6:c.1876+1G>C;ENST00000518815:exon3:c.381+1G>C)	.	.	0.999933757597683	0.948
18	8798290	G	T	18	8798292	y	y	splicing	MTCL1(NM_015210:exon10:c.2436+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3393+1G>T;ENST00000517570:exon8:c.2313+1G>T;ENST00000306285:exon10:c.381+1G>T;ENST00000400050:exon9:c.2313+1G>T;ENST00000359865:exon10:c.2436+1G>T;ENST00000520495:exon6:c.1876+1G>T;ENST00000518815:exon3:c.381+1G>T)	.	.	0.99993314117114	0.948
18	8798291	T	A	18	8798293	y	y	splicing	MTCL1(NM_015210:exon10:c.2436+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3393+2T>A;ENST00000517570:exon8:c.2313+2T>A;ENST00000306285:exon10:c.381+2T>A;ENST00000400050:exon9:c.2313+2T>A;ENST00000359865:exon10:c.2436+2T>A;ENST00000520495:exon6:c.1876+2T>A;ENST00000518815:exon3:c.381+2T>A)	.	.	0.99994568797423	0.944
18	8798291	T	C	18	8798293	y	y	splicing	MTCL1(NM_015210:exon10:c.2436+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3393+2T>C;ENST00000517570:exon8:c.2313+2T>C;ENST00000306285:exon10:c.381+2T>C;ENST00000400050:exon9:c.2313+2T>C;ENST00000359865:exon10:c.2436+2T>C;ENST00000520495:exon6:c.1876+2T>C;ENST00000518815:exon3:c.381+2T>C)	.	.	0.999709298948443	0.916
18	8798291	T	G	18	8798293	y	y	splicing	MTCL1(NM_015210:exon10:c.2436+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon8:c.3393+2T>G;ENST00000517570:exon8:c.2313+2T>G;ENST00000306285:exon10:c.381+2T>G;ENST00000400050:exon9:c.2313+2T>G;ENST00000359865:exon10:c.2436+2T>G;ENST00000520495:exon6:c.1876+2T>G;ENST00000518815:exon3:c.381+2T>G)	.	.	0.999946188727699	0.944
18	8798292	G	A	18	8798294	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.33578507921995E-4	0.06
18	8798292	G	C	18	8798294	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0837396963809506	0.456
18	8798292	G	T	18	8798294	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.107171066436714	0.41
18	8798293	G	A	18	8798295	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.01133306254865E-4	0.034
18	8798293	G	C	18	8798295	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.64882103392622E-5	0.016
18	8798293	G	T	18	8798295	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.20010487117184E-4	0.03
18	8798294	G	A	18	8798296	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.995591419892672	0.936
18	8798294	G	C	18	8798296	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999947663290994	0.964
18	8798294	G	T	18	8798296	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.998799545399691	0.776
18	8798295	T	A	18	8798297	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.644496223335137	0.47
18	8798295	T	C	18	8798297	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.109443533605244	0.408
18	8798295	T	G	18	8798297	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.206224484809906	0.41
18	8798296	A	C	18	8798298	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.00020449498157E-4	0.026
18	8798296	A	G	18	8798298	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.9839918498921E-5	0.022
18	8798296	A	T	18	8798298	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.81859985318249E-4	0.06
18	8798297	C	A	18	8798299	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.29757550844177E-4	0.074
18	8798297	C	G	18	8798299	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.2546727368169E-4	0.068
18	8798297	C	T	18	8798299	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.22821383986869E-4	0.068
18	8806879	G	A	18	8806881	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.3099969812128E-4	.
18	8806879	G	C	18	8806881	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.04708270177866E-4	.
18	8806879	G	T	18	8806881	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.04688922413296E-4	.
18	8806880	T	A	18	8806882	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999830782750691	.
18	8806880	T	C	18	8806882	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.841667447503119	.
18	8806880	T	G	18	8806882	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999669777087088	.
18	8806881	G	A	18	8806883	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.9879275540333	.
18	8806881	G	C	18	8806883	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.940441987527731	.
18	8806881	G	T	18	8806883	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.924362806720056	.
18	8806882	T	A	18	8806884	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99957271936863	.
18	8806882	T	C	18	8806884	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.885038839962322	.
18	8806882	T	G	18	8806884	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999543977295989	.
18	8806883	T	A	18	8806885	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00245917142553559	.
18	8806883	T	C	18	8806885	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.12735122824643E-5	.
18	8806883	T	G	18	8806885	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00280187392491845	.
18	8806884	C	A	18	8806886	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.956459302937076	.
18	8806884	C	G	18	8806886	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.797038050755846	.
18	8806884	C	T	18	8806886	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0017996576896374	.
18	8806885	C	A	18	8806887	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.933500802577238	.
18	8806885	C	G	18	8806887	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.940937206054371	.
18	8806885	C	T	18	8806887	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00343684223677439	.
18	8806886	C	A	18	8806888	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.885408021496217	.
18	8806886	C	G	18	8806888	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0369485444463461	.
18	8806886	C	T	18	8806888	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.34839059647019E-4	.
18	8806887	G	A	18	8806889	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.90619693712641E-5	.
18	8806887	G	C	18	8806889	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.33406039295762E-5	.
18	8806887	G	T	18	8806889	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.3338447843433E-4	.
18	8806888	C	A	18	8806890	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.997629738042524	.
18	8806888	C	G	18	8806890	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999986606239087	.
18	8806888	C	T	18	8806890	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.67134492305988	.
18	8806889	A	C	18	8806891	y	y	splicing	MTCL1(NM_015210:exon11:c.2437-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3394-2A>C;ENST00000517570:exon9:c.2314-2A>C;ENST00000306285:exon11:c.382-2A>C;ENST00000400050:exon10:c.2314-2A>C;ENST00000359865:exon11:c.2437-2A>C;ENST00000520495:exon7:c.1877-2A>C;ENST00000518815:exon4:c.382-2A>C)	.	.	0.999959852047835	.
18	8806889	A	G	18	8806891	y	y	splicing	MTCL1(NM_015210:exon11:c.2437-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3394-2A>G;ENST00000517570:exon9:c.2314-2A>G;ENST00000306285:exon11:c.382-2A>G;ENST00000400050:exon10:c.2314-2A>G;ENST00000359865:exon11:c.2437-2A>G;ENST00000520495:exon7:c.1877-2A>G;ENST00000518815:exon4:c.382-2A>G)	.	.	0.999959852047835	.
18	8806889	A	T	18	8806891	y	y	splicing	MTCL1(NM_015210:exon11:c.2437-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3394-2A>T;ENST00000517570:exon9:c.2314-2A>T;ENST00000306285:exon11:c.382-2A>T;ENST00000400050:exon10:c.2314-2A>T;ENST00000359865:exon11:c.2437-2A>T;ENST00000520495:exon7:c.1877-2A>T;ENST00000518815:exon4:c.382-2A>T)	.	.	0.999959852047835	.
18	8806890	G	A	18	8806892	y	y	splicing	MTCL1(NM_015210:exon11:c.2437-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3394-1G>A;ENST00000517570:exon9:c.2314-1G>A;ENST00000306285:exon11:c.382-1G>A;ENST00000400050:exon10:c.2314-1G>A;ENST00000359865:exon11:c.2437-1G>A;ENST00000520495:exon7:c.1877-1G>A;ENST00000518815:exon4:c.382-1G>A)	.	.	0.999960095528581	.
18	8806890	G	C	18	8806892	y	y	splicing	MTCL1(NM_015210:exon11:c.2437-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3394-1G>C;ENST00000517570:exon9:c.2314-1G>C;ENST00000306285:exon11:c.382-1G>C;ENST00000400050:exon10:c.2314-1G>C;ENST00000359865:exon11:c.2437-1G>C;ENST00000520495:exon7:c.1877-1G>C;ENST00000518815:exon4:c.382-1G>C)	.	.	0.999960095528581	.
18	8806890	G	T	18	8806892	y	y	splicing	MTCL1(NM_015210:exon11:c.2437-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3394-1G>T;ENST00000517570:exon9:c.2314-1G>T;ENST00000306285:exon11:c.382-1G>T;ENST00000400050:exon10:c.2314-1G>T;ENST00000359865:exon11:c.2437-1G>T;ENST00000520495:exon7:c.1877-1G>T;ENST00000518815:exon4:c.382-1G>T)	.	.	0.999960095528581	.
18	8806891	G	A	18	8806893	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.G2437A:p.V813M;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.G382A:p.V128M;ENSG00000168502:ENST00000306329:exon9:c.G3394A:p.V1132M;ENSG00000168502:ENST00000517570:exon9:c.G2314A:p.V772M;ENSG00000168502:ENST00000306285:exon11:c.G382A:p.V128M;ENSG00000168502:ENST00000400050:exon10:c.G2314A:p.V772M;ENSG00000168502:ENST00000359865:exon11:c.G2437A:p.V813M;	0.732414269096668	.
18	8806891	G	C	18	8806893	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.G2437C:p.V813L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.G382C:p.V128L;ENSG00000168502:ENST00000306329:exon9:c.G3394C:p.V1132L;ENSG00000168502:ENST00000517570:exon9:c.G2314C:p.V772L;ENSG00000168502:ENST00000306285:exon11:c.G382C:p.V128L;ENSG00000168502:ENST00000400050:exon10:c.G2314C:p.V772L;ENSG00000168502:ENST00000359865:exon11:c.G2437C:p.V813L;	0.954259316177711	.
18	8806891	G	T	18	8806893	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.G2437T:p.V813L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.G382T:p.V128L;ENSG00000168502:ENST00000306329:exon9:c.G3394T:p.V1132L;ENSG00000168502:ENST00000517570:exon9:c.G2314T:p.V772L;ENSG00000168502:ENST00000306285:exon11:c.G382T:p.V128L;ENSG00000168502:ENST00000400050:exon10:c.G2314T:p.V772L;ENSG00000168502:ENST00000359865:exon11:c.G2437T:p.V813L;	0.990267349579099	.
18	8806892	T	A	18	8806894	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.T2438A:p.V813E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.T383A:p.V128E;ENSG00000168502:ENST00000306329:exon9:c.T3395A:p.V1132E;ENSG00000168502:ENST00000517570:exon9:c.T2315A:p.V772E;ENSG00000168502:ENST00000306285:exon11:c.T383A:p.V128E;ENSG00000168502:ENST00000400050:exon10:c.T2315A:p.V772E;ENSG00000168502:ENST00000359865:exon11:c.T2438A:p.V813E;	0.0325723789852309	.
18	8806892	T	C	18	8806894	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.T2438C:p.V813A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.T383C:p.V128A;ENSG00000168502:ENST00000306329:exon9:c.T3395C:p.V1132A;ENSG00000168502:ENST00000517570:exon9:c.T2315C:p.V772A;ENSG00000168502:ENST00000306285:exon11:c.T383C:p.V128A;ENSG00000168502:ENST00000400050:exon10:c.T2315C:p.V772A;ENSG00000168502:ENST00000359865:exon11:c.T2438C:p.V813A;	0.00897538460595616	.
18	8806892	T	G	18	8806894	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.T2438G:p.V813G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.T383G:p.V128G;ENSG00000168502:ENST00000306329:exon9:c.T3395G:p.V1132G;ENSG00000168502:ENST00000517570:exon9:c.T2315G:p.V772G;ENSG00000168502:ENST00000306285:exon11:c.T383G:p.V128G;ENSG00000168502:ENST00000400050:exon10:c.T2315G:p.V772G;ENSG00000168502:ENST00000359865:exon11:c.T2438G:p.V813G;	0.0714404409381377	.
18	8807056	C	A	18	8807058	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.C2602A:p.Q868K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.C547A:p.Q183K;ENSG00000168502:ENST00000306329:exon9:c.C3559A:p.Q1187K;ENSG00000168502:ENST00000517570:exon9:c.C2479A:p.Q827K;ENSG00000168502:ENST00000306285:exon11:c.C547A:p.Q183K;ENSG00000168502:ENST00000400050:exon10:c.C2479A:p.Q827K;ENSG00000168502:ENST00000359865:exon11:c.C2602A:p.Q868K;	0.961481265216218	0.714
18	8807056	C	G	18	8807058	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.C2602G:p.Q868E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.C547G:p.Q183E;ENSG00000168502:ENST00000306329:exon9:c.C3559G:p.Q1187E;ENSG00000168502:ENST00000517570:exon9:c.C2479G:p.Q827E;ENSG00000168502:ENST00000306285:exon11:c.C547G:p.Q183E;ENSG00000168502:ENST00000400050:exon10:c.C2479G:p.Q827E;ENSG00000168502:ENST00000359865:exon11:c.C2602G:p.Q868E;	0.972990030630179	0.706
18	8807056	C	T	18	8807058	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon11:c.C2602T:p.Q868X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon4:c.C547T:p.Q183X;ENSG00000168502:ENST00000306329:exon9:c.C3559T:p.Q1187X;ENSG00000168502:ENST00000517570:exon9:c.C2479T:p.Q827X;ENSG00000168502:ENST00000306285:exon11:c.C547T:p.Q183X;ENSG00000168502:ENST00000400050:exon10:c.C2479T:p.Q827X;ENSG00000168502:ENST00000359865:exon11:c.C2602T:p.Q868X;	0.999915849317275	0.992
18	8807057	A	C	18	8807059	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.A2603C:p.Q868P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.A548C:p.Q183P;ENSG00000168502:ENST00000306329:exon9:c.A3560C:p.Q1187P;ENSG00000168502:ENST00000517570:exon9:c.A2480C:p.Q827P;ENSG00000168502:ENST00000306285:exon11:c.A548C:p.Q183P;ENSG00000168502:ENST00000400050:exon10:c.A2480C:p.Q827P;ENSG00000168502:ENST00000359865:exon11:c.A2603C:p.Q868P;	0.99993015687278	1.0
18	8807057	A	G	18	8807059	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.A2603G:p.Q868R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.A548G:p.Q183R;ENSG00000168502:ENST00000306329:exon9:c.A3560G:p.Q1187R;ENSG00000168502:ENST00000517570:exon9:c.A2480G:p.Q827R;ENSG00000168502:ENST00000306285:exon11:c.A548G:p.Q183R;ENSG00000168502:ENST00000400050:exon10:c.A2480G:p.Q827R;ENSG00000168502:ENST00000359865:exon11:c.A2603G:p.Q868R;	0.999957742632336	0.992
18	8807057	A	T	18	8807059	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.A2603T:p.Q868L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.A548T:p.Q183L;ENSG00000168502:ENST00000306329:exon9:c.A3560T:p.Q1187L;ENSG00000168502:ENST00000517570:exon9:c.A2480T:p.Q827L;ENSG00000168502:ENST00000306285:exon11:c.A548T:p.Q183L;ENSG00000168502:ENST00000400050:exon10:c.A2480T:p.Q827L;ENSG00000168502:ENST00000359865:exon11:c.A2603T:p.Q868L;	0.999979851600115	0.994
18	8807058	G	A	18	8807060	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon11:c.G2604A:p.Q868Q;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.G549A:p.Q183Q;ENSG00000168502:ENST00000306329:exon9:c.G3561A:p.Q1187Q;ENSG00000168502:ENST00000517570:exon9:c.G2481A:p.Q827Q;ENSG00000168502:ENST00000306285:exon11:c.G549A:p.Q183Q;ENSG00000168502:ENST00000400050:exon10:c.G2481A:p.Q827Q;ENSG00000168502:ENST00000359865:exon11:c.G2604A:p.Q868Q;	0.999992042933719	0.998
18	8807058	G	C	18	8807060	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.G2604C:p.Q868H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.G549C:p.Q183H;ENSG00000168502:ENST00000306329:exon9:c.G3561C:p.Q1187H;ENSG00000168502:ENST00000517570:exon9:c.G2481C:p.Q827H;ENSG00000168502:ENST00000306285:exon11:c.G549C:p.Q183H;ENSG00000168502:ENST00000400050:exon10:c.G2481C:p.Q827H;ENSG00000168502:ENST00000359865:exon11:c.G2604C:p.Q868H;	0.999996687773079	1.0
18	8807058	G	T	18	8807060	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon11:c.G2604T:p.Q868H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon4:c.G549T:p.Q183H;ENSG00000168502:ENST00000306329:exon9:c.G3561T:p.Q1187H;ENSG00000168502:ENST00000517570:exon9:c.G2481T:p.Q827H;ENSG00000168502:ENST00000306285:exon11:c.G549T:p.Q183H;ENSG00000168502:ENST00000400050:exon10:c.G2481T:p.Q827H;ENSG00000168502:ENST00000359865:exon11:c.G2604T:p.Q868H;	0.999995009246243	1.0
18	8807059	G	A	18	8807061	y	y	splicing	MTCL1(NM_015210:exon11:c.2604+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3561+1G>A;ENST00000517570:exon9:c.2481+1G>A;ENST00000306285:exon11:c.549+1G>A;ENST00000400050:exon10:c.2481+1G>A;ENST00000359865:exon11:c.2604+1G>A;ENST00000520495:exon7:c.2044+1G>A;ENST00000518815:exon4:c.549+1G>A)	.	.	0.999990361384395	0.938
18	8807059	G	C	18	8807061	y	y	splicing	MTCL1(NM_015210:exon11:c.2604+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3561+1G>C;ENST00000517570:exon9:c.2481+1G>C;ENST00000306285:exon11:c.549+1G>C;ENST00000400050:exon10:c.2481+1G>C;ENST00000359865:exon11:c.2604+1G>C;ENST00000520495:exon7:c.2044+1G>C;ENST00000518815:exon4:c.549+1G>C)	.	.	0.999990361384395	0.938
18	8807059	G	T	18	8807061	y	y	splicing	MTCL1(NM_015210:exon11:c.2604+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3561+1G>T;ENST00000517570:exon9:c.2481+1G>T;ENST00000306285:exon11:c.549+1G>T;ENST00000400050:exon10:c.2481+1G>T;ENST00000359865:exon11:c.2604+1G>T;ENST00000520495:exon7:c.2044+1G>T;ENST00000518815:exon4:c.549+1G>T)	.	.	0.999990361384395	0.938
18	8807060	T	A	18	8807062	y	y	splicing	MTCL1(NM_015210:exon11:c.2604+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3561+2T>A;ENST00000517570:exon9:c.2481+2T>A;ENST00000306285:exon11:c.549+2T>A;ENST00000400050:exon10:c.2481+2T>A;ENST00000359865:exon11:c.2604+2T>A;ENST00000520495:exon7:c.2044+2T>A;ENST00000518815:exon4:c.549+2T>A)	.	.	0.999988247793601	0.932
18	8807060	T	C	18	8807062	y	y	splicing	MTCL1(NM_015210:exon11:c.2604+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3561+2T>C;ENST00000517570:exon9:c.2481+2T>C;ENST00000306285:exon11:c.549+2T>C;ENST00000400050:exon10:c.2481+2T>C;ENST00000359865:exon11:c.2604+2T>C;ENST00000520495:exon7:c.2044+2T>C;ENST00000518815:exon4:c.549+2T>C)	.	.	0.99340600729494	0.696
18	8807060	T	G	18	8807062	y	y	splicing	MTCL1(NM_015210:exon11:c.2604+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon9:c.3561+2T>G;ENST00000517570:exon9:c.2481+2T>G;ENST00000306285:exon11:c.549+2T>G;ENST00000400050:exon10:c.2481+2T>G;ENST00000359865:exon11:c.2604+2T>G;ENST00000520495:exon7:c.2044+2T>G;ENST00000518815:exon4:c.549+2T>G)	.	.	0.999988247793601	0.932
18	8807061	A	C	18	8807063	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999897613551262	0.92
18	8807061	A	G	18	8807063	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.983773923063156	0.846
18	8807061	A	T	18	8807063	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999980880951948	0.936
18	8807062	C	A	18	8807064	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.07491350492057E-4	0.04
18	8807062	C	G	18	8807064	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.10420678967517E-4	0.076
18	8807062	C	T	18	8807064	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0013759132995306	0.062
18	8807063	C	A	18	8807065	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.24135458311941E-5	0.004
18	8807063	C	G	18	8807065	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.66554997293866E-5	0.006
18	8807063	C	T	18	8807065	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.09324922762019E-5	0.0
18	8807064	A	C	18	8807066	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.42048944906826E-4	0.038
18	8807064	A	G	18	8807066	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.92291295401114E-5	0.004
18	8807064	A	T	18	8807066	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.33256212363744E-5	0.038
18	8807065	C	A	18	8807067	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.29866858448276E-5	0.002
18	8807065	C	G	18	8807067	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.02294787453495E-5	0.0
18	8807065	C	T	18	8807067	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.50373529948818E-5	0.0
18	8807066	C	A	18	8807068	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.17931897401124E-4	0.006
18	8807066	C	G	18	8807068	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.00082976856931E-5	0.0
18	8807066	C	T	18	8807068	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.17931897401124E-4	0.008
18	8809434	A	C	18	8809436	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.34208757508979E-4	0.1
18	8809434	A	G	18	8809436	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.34208757508979E-4	0.098
18	8809434	A	T	18	8809436	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.18514214212084E-4	0.106
18	8809435	T	A	18	8809437	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.18514214212084E-4	0.112
18	8809435	T	C	18	8809437	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.34208757508979E-4	0.1
18	8809435	T	G	18	8809437	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.34208757508979E-4	0.1
18	8809436	T	A	18	8809438	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.18514214212084E-4	0.11
18	8809436	T	C	18	8809438	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.34208757508979E-4	0.1
18	8809436	T	G	18	8809438	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.34208757508979E-4	0.1
18	8809437	T	A	18	8809439	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.18514214212084E-4	0.112
18	8809437	T	C	18	8809439	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.34208757508979E-4	0.1
18	8809437	T	G	18	8809439	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.34208757508979E-4	0.1
18	8809438	C	A	18	8809440	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.78667633506325E-5	0.018
18	8809438	C	G	18	8809440	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.15668733127979E-5	0.002
18	8809438	C	T	18	8809440	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.78667633506325E-5	0.002
18	8809439	C	A	18	8809441	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.90177193295887E-6	0.002
18	8809439	C	G	18	8809441	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.90177193295887E-6	0.004
18	8809439	C	T	18	8809441	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.37501361942679E-5	0.018
18	8809440	C	A	18	8809442	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.0288925866825E-5	0.002
18	8809440	C	G	18	8809442	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.0288925866825E-5	0.002
18	8809440	C	T	18	8809442	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.0288925866825E-5	0.002
18	8809441	G	A	18	8809443	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.35379928190213E-5	0.008
18	8809441	G	C	18	8809443	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.35379928190213E-5	0.0
18	8809441	G	T	18	8809443	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.35379928190213E-5	0.0
18	8809442	T	A	18	8809444	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.97816655078712E-4	0.052
18	8809442	T	C	18	8809444	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.97816655078712E-4	0.052
18	8809442	T	G	18	8809444	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.97816655078712E-4	0.052
18	8809443	T	A	18	8809445	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.45277156108894E-5	0.0
18	8809443	T	C	18	8809445	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.45277156108894E-5	0.0
18	8809443	T	G	18	8809445	n	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.45277156108894E-5	0.0
18	8809444	A	C	18	8809446	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.550-2A>C;ENST00000520495:exon8:c.2045-2A>C;ENST00000518815:exon5:c.550-2A>C)	.	.	1.97816655078712E-4	0.052
18	8809444	A	G	18	8809446	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.550-2A>G;ENST00000520495:exon8:c.2045-2A>G;ENST00000518815:exon5:c.550-2A>G)	.	.	1.97816655078712E-4	0.052
18	8809444	A	T	18	8809446	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.550-2A>T;ENST00000520495:exon8:c.2045-2A>T;ENST00000518815:exon5:c.550-2A>T)	.	.	1.97816655078712E-4	0.058
18	8809445	G	A	18	8809447	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.550-1G>A;ENST00000520495:exon8:c.2045-1G>A;ENST00000518815:exon5:c.550-1G>A)	.	.	1.38902716199852E-4	0.0
18	8809445	G	C	18	8809447	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.550-1G>C;ENST00000520495:exon8:c.2045-1G>C;ENST00000518815:exon5:c.550-1G>C)	.	.	1.99153316237132E-5	0.0
18	8809445	G	T	18	8809447	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.550-1G>T;ENST00000520495:exon8:c.2045-1G>T;ENST00000518815:exon5:c.550-1G>T)	.	.	5.37812133402739E-5	0.004
18	8809446	A	C	18	8809448	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A550C:p.N184H;ENSG00000168502:ENST00000306285:exon12:c.A550C:p.N184H;	2.90917972120175E-4	0.028
18	8809446	A	G	18	8809448	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A550G:p.N184D;ENSG00000168502:ENST00000306285:exon12:c.A550G:p.N184D;	1.97816655078712E-4	0.052
18	8809446	A	T	18	8809448	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A550T:p.N184Y;ENSG00000168502:ENST00000306285:exon12:c.A550T:p.N184Y;	2.90917972120175E-4	0.028
18	8809447	A	C	18	8809449	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A551C:p.N184T;ENSG00000168502:ENST00000306285:exon12:c.A551C:p.N184T;	4.41863113010999E-4	0.032
18	8809447	A	G	18	8809449	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A551G:p.N184S;ENSG00000168502:ENST00000306285:exon12:c.A551G:p.N184S;	3.18514214212084E-4	0.116
18	8809447	A	T	18	8809449	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A551T:p.N184I;ENSG00000168502:ENST00000306285:exon12:c.A551T:p.N184I;	0.00116674076377048	0.03
18	8809557	G	A	18	8809559	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.G661A:p.E221K;ENSG00000168502:ENST00000306285:exon12:c.G661A:p.E221K;	2.4631346304159E-5	0.004
18	8809557	G	C	18	8809559	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.G661C:p.E221Q;ENSG00000168502:ENST00000306285:exon12:c.G661C:p.E221Q;	2.4631346304159E-5	0.004
18	8809557	G	T	18	8809559	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon5:c.G661T:p.E221X;ENSG00000168502:ENST00000306285:exon12:c.G661T:p.E221X;	1.55572806460604E-5	0.02
18	8809558	A	C	18	8809560	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A662C:p.E221A;ENSG00000168502:ENST00000306285:exon12:c.A662C:p.E221A;	1.99153316237132E-5	0.0
18	8809558	A	G	18	8809560	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A662G:p.E221G;ENSG00000168502:ENST00000306285:exon12:c.A662G:p.E221G;	2.82827935381688E-5	0.004
18	8809558	A	T	18	8809560	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.A662T:p.E221V;ENSG00000168502:ENST00000306285:exon12:c.A662T:p.E221V;	2.82827935381688E-5	0.002
18	8809559	G	A	18	8809561	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.G663A:p.E221E;ENSG00000168502:ENST00000306285:exon12:c.G663A:p.E221E;	2.05546306797605E-4	0.102
18	8809559	G	C	18	8809561	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.G663C:p.E221D;ENSG00000168502:ENST00000306285:exon12:c.G663C:p.E221D;	5.60678545994761E-5	0.044
18	8809559	G	T	18	8809561	n	y	intronic	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon5:c.G663T:p.E221D;ENSG00000168502:ENST00000306285:exon12:c.G663T:p.E221D;	5.60678545994761E-5	0.046
18	8809560	G	A	18	8809562	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.663+1G>A;ENST00000518815:exon5:c.663+1G>A)	.	.	2.79361714119416E-4	0.01
18	8809560	G	C	18	8809562	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.663+1G>C;ENST00000518815:exon5:c.663+1G>C)	.	.	1.53717286515496E-4	0.004
18	8809560	G	T	18	8809562	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.663+1G>T;ENST00000518815:exon5:c.663+1G>T)	.	.	1.53717286515496E-4	0.006
18	8809561	T	A	18	8809563	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.663+2T>A;ENST00000518815:exon5:c.663+2T>A)	.	.	3.52173701430229E-5	0.04
18	8809561	T	C	18	8809563	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.663+2T>C;ENST00000518815:exon5:c.663+2T>C)	.	.	3.52173701430229E-5	0.006
18	8809561	T	G	18	8809563	n	y	intronic	MTCL1	.	.	splicing	ENSG00000168502(ENST00000306285:exon12:c.663+2T>G;ENST00000518815:exon5:c.663+2T>G)	.	.	3.52173701430229E-5	0.006
18	8809562	G	A	18	8809564	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	6.14850402615726E-5	0.008
18	8809562	G	C	18	8809564	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	2.59034071532942E-5	0.0
18	8809562	G	T	18	8809564	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	2.59034071532942E-5	0.004
18	8809563	A	C	18	8809565	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	3.78864525412067E-5	0.0
18	8809563	A	G	18	8809565	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	3.78864525412067E-5	0.0
18	8809563	A	T	18	8809565	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	3.78864525412067E-5	0.0
18	8809564	G	A	18	8809566	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	2.82088144214041E-5	0.004
18	8809564	G	C	18	8809566	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	1.25492104196006E-5	0.0
18	8809564	G	T	18	8809566	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	1.35408894570581E-5	0.0
18	8809565	A	C	18	8809567	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	4.02784891650442E-5	0.004
18	8809565	A	G	18	8809567	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	4.02784891650442E-5	0.004
18	8809565	A	T	18	8809567	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	4.02784891650442E-5	0.006
18	8809566	G	A	18	8809568	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	1.27145488438373E-5	0.002
18	8809566	G	C	18	8809568	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	1.17833868802641E-5	0.002
18	8809566	G	T	18	8809568	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	1.17833868802641E-5	0.002
18	8809567	G	A	18	8809569	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	6.14850402615726E-5	0.008
18	8809567	G	C	18	8809569	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	2.40063699135737E-5	0.0
18	8809567	G	T	18	8809569	n	y	intronic	MTCL1	.	.	UTR3	ENSG00000168502	.	.	2.59034071532942E-5	0.002
18	8812965	T	A	18	8812967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.099135893631101	0.396
18	8812965	T	C	18	8812967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.81905813783607E-4	0.032
18	8812965	T	G	18	8812967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0730237011813079	0.258
18	8812966	C	A	18	8812968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00128627754968058	0.156
18	8812966	C	G	18	8812968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.55183347381838E-4	0.022
18	8812966	C	T	18	8812968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.54793841639806E-5	0.006
18	8812967	T	A	18	8812969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0867460326535892	0.366
18	8812967	T	C	18	8812969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00189540777124248	0.032
18	8812967	T	G	18	8812969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0626672165145869	0.262
18	8812968	C	A	18	8812970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.220101371459397	0.218
18	8812968	C	G	18	8812970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00815063399793261	0.07
18	8812968	C	T	18	8812970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.73241666674323E-4	0.074
18	8812969	C	A	18	8812971	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00128092772580329	0.146
18	8812969	C	G	18	8812971	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00171513210457429	0.212
18	8812969	C	T	18	8812971	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.74547672927731E-5	0.004
18	8812970	T	A	18	8812972	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.67594022926478E-4	0.068
18	8812970	T	C	18	8812972	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.5357999787239E-5	0.0
18	8812970	T	G	18	8812972	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.49783218001779E-4	0.056
18	8812971	T	A	18	8812973	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999935935612505	0.946
18	8812971	T	C	18	8812973	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00229264447845925	0.064
18	8812971	T	G	18	8812973	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.314297716916685	0.32
18	8812972	G	A	18	8812974	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.30014277508274E-4	0.034
18	8812972	G	C	18	8812974	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.29318103037805E-4	0.008
18	8812972	G	T	18	8812974	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.31787063563321E-4	0.008
18	8812973	A	C	18	8812975	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.41125675881702E-4	0.08
18	8812973	A	G	18	8812975	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.09178322131097E-4	0.052
18	8812973	A	T	18	8812975	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00134160364592831	0.046
18	8812974	C	A	18	8812976	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.994119612910311	0.732
18	8812974	C	G	18	8812976	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999959599494985	0.96
18	8812974	C	T	18	8812976	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0429100847456186	0.24
18	8812975	A	C	18	8812977	y	y	splicing	MTCL1(NM_015210:exon12:c.2605-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3562-2A>C;ENST00000517570:exon10:c.2482-2A>C;ENST00000306285:exon13:c.664-2A>C;ENST00000400050:exon11:c.2482-2A>C;ENST00000359865:exon12:c.2605-2A>C;ENST00000518815:exon6:c.664-2A>C)	.	.	0.999989917668626	0.926
18	8812975	A	G	18	8812977	y	y	splicing	MTCL1(NM_015210:exon12:c.2605-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3562-2A>G;ENST00000517570:exon10:c.2482-2A>G;ENST00000306285:exon13:c.664-2A>G;ENST00000400050:exon11:c.2482-2A>G;ENST00000359865:exon12:c.2605-2A>G;ENST00000518815:exon6:c.664-2A>G)	.	.	0.999989917668626	0.926
18	8812975	A	T	18	8812977	y	y	splicing	MTCL1(NM_015210:exon12:c.2605-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3562-2A>T;ENST00000517570:exon10:c.2482-2A>T;ENST00000306285:exon13:c.664-2A>T;ENST00000400050:exon11:c.2482-2A>T;ENST00000359865:exon12:c.2605-2A>T;ENST00000518815:exon6:c.664-2A>T)	.	.	0.999989917668626	0.926
18	8812976	G	A	18	8812978	y	y	splicing	MTCL1(NM_015210:exon12:c.2605-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3562-1G>A;ENST00000517570:exon10:c.2482-1G>A;ENST00000306285:exon13:c.664-1G>A;ENST00000400050:exon11:c.2482-1G>A;ENST00000359865:exon12:c.2605-1G>A;ENST00000518815:exon6:c.664-1G>A)	.	.	0.999986675681007	0.938
18	8812976	G	C	18	8812978	y	y	splicing	MTCL1(NM_015210:exon12:c.2605-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3562-1G>C;ENST00000517570:exon10:c.2482-1G>C;ENST00000306285:exon13:c.664-1G>C;ENST00000400050:exon11:c.2482-1G>C;ENST00000359865:exon12:c.2605-1G>C;ENST00000518815:exon6:c.664-1G>C)	.	.	0.999986675681007	0.938
18	8812976	G	T	18	8812978	y	y	splicing	MTCL1(NM_015210:exon12:c.2605-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3562-1G>T;ENST00000517570:exon10:c.2482-1G>T;ENST00000306285:exon13:c.664-1G>T;ENST00000400050:exon11:c.2482-1G>T;ENST00000359865:exon12:c.2605-1G>T;ENST00000518815:exon6:c.664-1G>T)	.	.	0.999986675681007	0.938
18	8812977	C	A	18	8812979	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.C2605A:p.L869M;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.C664A:p.L222M;ENSG00000168502:ENST00000306329:exon10:c.C3562A:p.L1188M;ENSG00000168502:ENST00000517570:exon10:c.C2482A:p.L828M;ENSG00000168502:ENST00000306285:exon13:c.C664A:p.L222M;ENSG00000168502:ENST00000400050:exon11:c.C2482A:p.L828M;ENSG00000168502:ENST00000359865:exon12:c.C2605A:p.L869M;	7.67657676640268E-4	0.128
18	8812977	C	G	18	8812979	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.C2605G:p.L869V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.C664G:p.L222V;ENSG00000168502:ENST00000306329:exon10:c.C3562G:p.L1188V;ENSG00000168502:ENST00000517570:exon10:c.C2482G:p.L828V;ENSG00000168502:ENST00000306285:exon13:c.C664G:p.L222V;ENSG00000168502:ENST00000400050:exon11:c.C2482G:p.L828V;ENSG00000168502:ENST00000359865:exon12:c.C2605G:p.L869V;	1.81451301942095E-4	0.094
18	8812977	C	T	18	8812979	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon12:c.C2605T:p.L869L;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.C664T:p.L222L;ENSG00000168502:ENST00000306329:exon10:c.C3562T:p.L1188L;ENSG00000168502:ENST00000517570:exon10:c.C2482T:p.L828L;ENSG00000168502:ENST00000306285:exon13:c.C664T:p.L222L;ENSG00000168502:ENST00000400050:exon11:c.C2482T:p.L828L;ENSG00000168502:ENST00000359865:exon12:c.C2605T:p.L869L;	0.00401244933452168	0.192
18	8812978	T	A	18	8812980	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.T2606A:p.L869Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.T665A:p.L222Q;ENSG00000168502:ENST00000306329:exon10:c.T3563A:p.L1188Q;ENSG00000168502:ENST00000517570:exon10:c.T2483A:p.L828Q;ENSG00000168502:ENST00000306285:exon13:c.T665A:p.L222Q;ENSG00000168502:ENST00000400050:exon11:c.T2483A:p.L828Q;ENSG00000168502:ENST00000359865:exon12:c.T2606A:p.L869Q;	0.119799009823739	0.454
18	8812978	T	C	18	8812980	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.T2606C:p.L869P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.T665C:p.L222P;ENSG00000168502:ENST00000306329:exon10:c.T3563C:p.L1188P;ENSG00000168502:ENST00000517570:exon10:c.T2483C:p.L828P;ENSG00000168502:ENST00000306285:exon13:c.T665C:p.L222P;ENSG00000168502:ENST00000400050:exon11:c.T2483C:p.L828P;ENSG00000168502:ENST00000359865:exon12:c.T2606C:p.L869P;	0.17543172555758	0.45
18	8812978	T	G	18	8812980	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.T2606G:p.L869R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.T665G:p.L222R;ENSG00000168502:ENST00000306329:exon10:c.T3563G:p.L1188R;ENSG00000168502:ENST00000517570:exon10:c.T2483G:p.L828R;ENSG00000168502:ENST00000306285:exon13:c.T665G:p.L222R;ENSG00000168502:ENST00000400050:exon11:c.T2483G:p.L828R;ENSG00000168502:ENST00000359865:exon12:c.T2606G:p.L869R;	0.112530424103945	0.486
18	8813229	C	A	18	8813231	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.C2857A:p.Q953K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.C916A:p.Q306K;ENSG00000168502:ENST00000306329:exon10:c.C3814A:p.Q1272K;ENSG00000168502:ENST00000517570:exon10:c.C2734A:p.Q912K;ENSG00000168502:ENST00000306285:exon13:c.C916A:p.Q306K;ENSG00000168502:ENST00000400050:exon11:c.C2734A:p.Q912K;ENSG00000168502:ENST00000359865:exon12:c.C2857A:p.Q953K;	0.00113447230886618	0.176
18	8813229	C	G	18	8813231	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.C2857G:p.Q953E;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.C916G:p.Q306E;ENSG00000168502:ENST00000306329:exon10:c.C3814G:p.Q1272E;ENSG00000168502:ENST00000517570:exon10:c.C2734G:p.Q912E;ENSG00000168502:ENST00000306285:exon13:c.C916G:p.Q306E;ENSG00000168502:ENST00000400050:exon11:c.C2734G:p.Q912E;ENSG00000168502:ENST00000359865:exon12:c.C2857G:p.Q953E;	8.19785604365864E-4	0.138
18	8813229	C	T	18	8813231	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon12:c.C2857T:p.Q953X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon6:c.C916T:p.Q306X;ENSG00000168502:ENST00000306329:exon10:c.C3814T:p.Q1272X;ENSG00000168502:ENST00000517570:exon10:c.C2734T:p.Q912X;ENSG00000168502:ENST00000306285:exon13:c.C916T:p.Q306X;ENSG00000168502:ENST00000400050:exon11:c.C2734T:p.Q912X;ENSG00000168502:ENST00000359865:exon12:c.C2857T:p.Q953X;	0.217065238998157	0.402
18	8813230	A	C	18	8813232	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.A2858C:p.Q953P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.A917C:p.Q306P;ENSG00000168502:ENST00000306329:exon10:c.A3815C:p.Q1272P;ENSG00000168502:ENST00000517570:exon10:c.A2735C:p.Q912P;ENSG00000168502:ENST00000306285:exon13:c.A917C:p.Q306P;ENSG00000168502:ENST00000400050:exon11:c.A2735C:p.Q912P;ENSG00000168502:ENST00000359865:exon12:c.A2858C:p.Q953P;	0.988429424998449	0.796
18	8813230	A	G	18	8813232	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.A2858G:p.Q953R;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.A917G:p.Q306R;ENSG00000168502:ENST00000306329:exon10:c.A3815G:p.Q1272R;ENSG00000168502:ENST00000517570:exon10:c.A2735G:p.Q912R;ENSG00000168502:ENST00000306285:exon13:c.A917G:p.Q306R;ENSG00000168502:ENST00000400050:exon11:c.A2735G:p.Q912R;ENSG00000168502:ENST00000359865:exon12:c.A2858G:p.Q953R;	0.990374839251977	0.898
18	8813230	A	T	18	8813232	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.A2858T:p.Q953L;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.A917T:p.Q306L;ENSG00000168502:ENST00000306329:exon10:c.A3815T:p.Q1272L;ENSG00000168502:ENST00000517570:exon10:c.A2735T:p.Q912L;ENSG00000168502:ENST00000306285:exon13:c.A917T:p.Q306L;ENSG00000168502:ENST00000400050:exon11:c.A2735T:p.Q912L;ENSG00000168502:ENST00000359865:exon12:c.A2858T:p.Q953L;	0.98676098896997	0.532
18	8813231	G	A	18	8813233	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon12:c.G2859A:p.Q953Q;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.G918A:p.Q306Q;ENSG00000168502:ENST00000306329:exon10:c.G3816A:p.Q1272Q;ENSG00000168502:ENST00000517570:exon10:c.G2736A:p.Q912Q;ENSG00000168502:ENST00000306285:exon13:c.G918A:p.Q306Q;ENSG00000168502:ENST00000400050:exon11:c.G2736A:p.Q912Q;ENSG00000168502:ENST00000359865:exon12:c.G2859A:p.Q953Q;	0.999337805650354	0.924
18	8813231	G	C	18	8813233	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.G2859C:p.Q953H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.G918C:p.Q306H;ENSG00000168502:ENST00000306329:exon10:c.G3816C:p.Q1272H;ENSG00000168502:ENST00000517570:exon10:c.G2736C:p.Q912H;ENSG00000168502:ENST00000306285:exon13:c.G918C:p.Q306H;ENSG00000168502:ENST00000400050:exon11:c.G2736C:p.Q912H;ENSG00000168502:ENST00000359865:exon12:c.G2859C:p.Q953H;	0.999927852058196	0.964
18	8813231	G	T	18	8813233	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon12:c.G2859T:p.Q953H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon6:c.G918T:p.Q306H;ENSG00000168502:ENST00000306329:exon10:c.G3816T:p.Q1272H;ENSG00000168502:ENST00000517570:exon10:c.G2736T:p.Q912H;ENSG00000168502:ENST00000306285:exon13:c.G918T:p.Q306H;ENSG00000168502:ENST00000400050:exon11:c.G2736T:p.Q912H;ENSG00000168502:ENST00000359865:exon12:c.G2859T:p.Q953H;	0.999562077075256	0.968
18	8813232	G	A	18	8813234	y	y	splicing	MTCL1(NM_015210:exon12:c.2859+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3816+1G>A;ENST00000517570:exon10:c.2736+1G>A;ENST00000306285:exon13:c.918+1G>A;ENST00000400050:exon11:c.2736+1G>A;ENST00000359865:exon12:c.2859+1G>A;ENST00000518815:exon6:c.918+1G>A)	.	.	0.999988247793601	0.922
18	8813232	G	C	18	8813234	y	y	splicing	MTCL1(NM_015210:exon12:c.2859+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3816+1G>C;ENST00000517570:exon10:c.2736+1G>C;ENST00000306285:exon13:c.918+1G>C;ENST00000400050:exon11:c.2736+1G>C;ENST00000359865:exon12:c.2859+1G>C;ENST00000518815:exon6:c.918+1G>C)	.	.	0.999988247793601	0.922
18	8813232	G	T	18	8813234	y	y	splicing	MTCL1(NM_015210:exon12:c.2859+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3816+1G>T;ENST00000517570:exon10:c.2736+1G>T;ENST00000306285:exon13:c.918+1G>T;ENST00000400050:exon11:c.2736+1G>T;ENST00000359865:exon12:c.2859+1G>T;ENST00000518815:exon6:c.918+1G>T)	.	.	0.999988247793601	0.922
18	8813233	T	A	18	8813235	y	y	splicing	MTCL1(NM_015210:exon12:c.2859+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3816+2T>A;ENST00000517570:exon10:c.2736+2T>A;ENST00000306285:exon13:c.918+2T>A;ENST00000400050:exon11:c.2736+2T>A;ENST00000359865:exon12:c.2859+2T>A;ENST00000518815:exon6:c.918+2T>A)	.	.	0.999992446697775	0.93
18	8813233	T	C	18	8813235	y	y	splicing	MTCL1(NM_015210:exon12:c.2859+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3816+2T>C;ENST00000517570:exon10:c.2736+2T>C;ENST00000306285:exon13:c.918+2T>C;ENST00000400050:exon11:c.2736+2T>C;ENST00000359865:exon12:c.2859+2T>C;ENST00000518815:exon6:c.918+2T>C)	.	.	0.989838600809155	0.596
18	8813233	T	G	18	8813235	y	y	splicing	MTCL1(NM_015210:exon12:c.2859+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon10:c.3816+2T>G;ENST00000517570:exon10:c.2736+2T>G;ENST00000306285:exon13:c.918+2T>G;ENST00000400050:exon11:c.2736+2T>G;ENST00000359865:exon12:c.2859+2T>G;ENST00000518815:exon6:c.918+2T>G)	.	.	0.999992446697775	0.928
18	8813234	A	C	18	8813236	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.97904944961364	0.708
18	8813234	A	G	18	8813236	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00141813954523303	0.038
18	8813234	A	T	18	8813236	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.925327917140065	0.56
18	8813235	A	C	18	8813237	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.228106059984555	0.306
18	8813235	A	G	18	8813237	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.473513063975474	0.368
18	8813235	A	T	18	8813237	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.162362293934197	0.27
18	8813236	G	A	18	8813238	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.846511995943757	0.508
18	8813236	G	C	18	8813238	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.297622328869556	0.468
18	8813236	G	T	18	8813238	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.522703509516006	0.48
18	8813237	G	A	18	8813239	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.74201749439412E-4	0.016
18	8813237	G	C	18	8813239	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.37773578307364E-4	0.026
18	8813237	G	T	18	8813239	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.2728599666923E-4	0.004
18	8813238	A	C	18	8813240	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.3782162168514E-4	0.002
18	8813238	A	G	18	8813240	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.3782162168514E-4	0.0
18	8813238	A	T	18	8813240	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.51935156326963E-4	0.0
18	8813239	G	A	18	8813241	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.29992609310711E-5	0.022
18	8813239	G	C	18	8813241	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.86240778941535E-5	0.0
18	8813239	G	T	18	8813241	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.01641951642699E-5	0.002
18	8818949	A	C	18	8818951	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.35429076177266E-6	0.116
18	8818949	A	G	18	8818951	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.23276415873625E-5	0.04
18	8818949	A	T	18	8818951	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.5555453792393E-5	0.134
18	8818950	A	C	18	8818952	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.33816658866779E-4	0.238
18	8818950	A	G	18	8818952	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.998752234237944	0.88
18	8818950	A	T	18	8818952	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.47399837881321E-4	0.342
18	8818951	A	C	18	8818953	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.73402812403081E-4	0.29
18	8818951	A	G	18	8818953	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999661240716411	0.94
18	8818951	A	T	18	8818953	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.84577937291111E-4	0.45
18	8818952	A	C	18	8818954	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0434482229356995	0.414
18	8818952	A	G	18	8818954	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999616530422577	0.952
18	8818952	A	T	18	8818954	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0873828411767713	0.48
18	8818953	T	A	18	8818955	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00759224877290193	0.314
18	8818953	T	C	18	8818955	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.52462224869278E-4	0.064
18	8818953	T	G	18	8818955	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.979122746590533	0.902
18	8818954	T	A	18	8818956	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.315423031143301	0.552
18	8818954	T	C	18	8818956	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.03772595856253E-4	0.05
18	8818954	T	G	18	8818956	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.580921330022072	0.594
18	8818955	C	A	18	8818957	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0194249678591475	0.336
18	8818955	C	G	18	8818957	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0234796196957298	0.322
18	8818955	C	T	18	8818957	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.67195896859176E-5	0.088
18	8818956	T	A	18	8818958	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.853097031876464	0.736
18	8818956	T	C	18	8818958	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00116614929829819	0.186
18	8818956	T	G	18	8818958	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.961359160354447	0.754
18	8818957	C	A	18	8818959	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.09763764345324E-5	0.026
18	8818957	C	G	18	8818959	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.09021860434619E-5	0.004
18	8818957	C	T	18	8818959	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.54886585237168E-5	0.034
18	8818958	A	C	18	8818960	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.45453990602818E-4	0.056
18	8818958	A	G	18	8818960	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.126594726105903	0.29
18	8818958	A	T	18	8818960	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00165255319851337	0.116
18	8818959	A	C	18	8818961	y	y	splicing	MTCL1(NM_015210:exon13:c.2860-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.3817-2A>C;ENST00000517570:exon11:c.2737-2A>C;ENST00000400050:exon12:c.2737-2A>C;ENST00000359865:exon13:c.2860-2A>C)	.	.	0.999914511980801	0.888
18	8818959	A	G	18	8818961	y	y	splicing	MTCL1(NM_015210:exon13:c.2860-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.3817-2A>G;ENST00000517570:exon11:c.2737-2A>G;ENST00000400050:exon12:c.2737-2A>G;ENST00000359865:exon13:c.2860-2A>G)	.	.	0.999914511980801	0.888
18	8818959	A	T	18	8818961	y	y	splicing	MTCL1(NM_015210:exon13:c.2860-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.3817-2A>T;ENST00000517570:exon11:c.2737-2A>T;ENST00000400050:exon12:c.2737-2A>T;ENST00000359865:exon13:c.2860-2A>T)	.	.	0.999914511980801	0.888
18	8818960	G	A	18	8818962	y	y	splicing	MTCL1(NM_015210:exon13:c.2860-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.3817-1G>A;ENST00000517570:exon11:c.2737-1G>A;ENST00000400050:exon12:c.2737-1G>A;ENST00000359865:exon13:c.2860-1G>A)	.	.	0.999985060940668	0.882
18	8818960	G	C	18	8818962	y	y	splicing	MTCL1(NM_015210:exon13:c.2860-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.3817-1G>C;ENST00000517570:exon11:c.2737-1G>C;ENST00000400050:exon12:c.2737-1G>C;ENST00000359865:exon13:c.2860-1G>C)	.	.	0.999985060940668	0.882
18	8818960	G	T	18	8818962	y	y	splicing	MTCL1(NM_015210:exon13:c.2860-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.3817-1G>T;ENST00000517570:exon11:c.2737-1G>T;ENST00000400050:exon12:c.2737-1G>T;ENST00000359865:exon13:c.2860-1G>T)	.	.	0.999985060940668	0.882
18	8818961	T	A	18	8818963	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.T2860A:p.L954M;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon11:c.T3817A:p.L1273M;ENSG00000168502:ENST00000517570:exon11:c.T2737A:p.L913M;ENSG00000168502:ENST00000400050:exon12:c.T2737A:p.L913M;ENSG00000168502:ENST00000359865:exon13:c.T2860A:p.L954M;	0.0309186256127811	0.496
18	8818961	T	C	18	8818963	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon13:c.T2860C:p.L954L;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000306329:exon11:c.T3817C:p.L1273L;ENSG00000168502:ENST00000517570:exon11:c.T2737C:p.L913L;ENSG00000168502:ENST00000400050:exon12:c.T2737C:p.L913L;ENSG00000168502:ENST00000359865:exon13:c.T2860C:p.L954L;	3.92360097326435E-4	0.04
18	8818961	T	G	18	8818963	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.T2860G:p.L954V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon11:c.T3817G:p.L1273V;ENSG00000168502:ENST00000517570:exon11:c.T2737G:p.L913V;ENSG00000168502:ENST00000400050:exon12:c.T2737G:p.L913V;ENSG00000168502:ENST00000359865:exon13:c.T2860G:p.L954V;	0.00168004971615892	0.158
18	8818962	T	A	18	8818964	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon13:c.T2861A:p.L954X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000306329:exon11:c.T3818A:p.L1273X;ENSG00000168502:ENST00000517570:exon11:c.T2738A:p.L913X;ENSG00000168502:ENST00000400050:exon12:c.T2738A:p.L913X;ENSG00000168502:ENST00000359865:exon13:c.T2861A:p.L954X;	0.484124335509951	0.59
18	8818962	T	C	18	8818964	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.T2861C:p.L954S;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon11:c.T3818C:p.L1273S;ENSG00000168502:ENST00000517570:exon11:c.T2738C:p.L913S;ENSG00000168502:ENST00000400050:exon12:c.T2738C:p.L913S;ENSG00000168502:ENST00000359865:exon13:c.T2861C:p.L954S;	0.484457300470335	0.526
18	8818962	T	G	18	8818964	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.T2861G:p.L954W;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon11:c.T3818G:p.L1273W;ENSG00000168502:ENST00000517570:exon11:c.T2738G:p.L913W;ENSG00000168502:ENST00000400050:exon12:c.T2738G:p.L913W;ENSG00000168502:ENST00000359865:exon13:c.T2861G:p.L954W;	0.487129470817877	0.572
18	8819255	G	A	18	8819257	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.G3154A:p.E1052K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon7:c.G1129A:p.E377K;ENSG00000168502:ENST00000306329:exon11:c.G4111A:p.E1371K;ENSG00000168502:ENST00000517570:exon11:c.G3031A:p.E1011K;ENSG00000168502:ENST00000306285:exon14:c.G1129A:p.E377K;ENSG00000168502:ENST00000400050:exon12:c.G3031A:p.E1011K;ENSG00000168502:ENST00000359865:exon13:c.G3154A:p.E1052K;	0.00116613444866845	0.11
18	8819255	G	C	18	8819257	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.G3154C:p.E1052Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon7:c.G1129C:p.E377Q;ENSG00000168502:ENST00000306329:exon11:c.G4111C:p.E1371Q;ENSG00000168502:ENST00000517570:exon11:c.G3031C:p.E1011Q;ENSG00000168502:ENST00000306285:exon14:c.G1129C:p.E377Q;ENSG00000168502:ENST00000400050:exon12:c.G3031C:p.E1011Q;ENSG00000168502:ENST00000359865:exon13:c.G3154C:p.E1052Q;	3.34742865479102E-4	0.002
18	8819255	G	T	18	8819257	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon13:c.G3154T:p.E1052X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon7:c.G1129T:p.E377X;ENSG00000168502:ENST00000306329:exon11:c.G4111T:p.E1371X;ENSG00000168502:ENST00000517570:exon11:c.G3031T:p.E1011X;ENSG00000168502:ENST00000306285:exon14:c.G1129T:p.E377X;ENSG00000168502:ENST00000400050:exon12:c.G3031T:p.E1011X;ENSG00000168502:ENST00000359865:exon13:c.G3154T:p.E1052X;	0.0598562605059411	0.27
18	8819256	A	C	18	8819258	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.A3155C:p.E1052A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon7:c.A1130C:p.E377A;ENSG00000168502:ENST00000306329:exon11:c.A4112C:p.E1371A;ENSG00000168502:ENST00000517570:exon11:c.A3032C:p.E1011A;ENSG00000168502:ENST00000306285:exon14:c.A1130C:p.E377A;ENSG00000168502:ENST00000400050:exon12:c.A3032C:p.E1011A;ENSG00000168502:ENST00000359865:exon13:c.A3155C:p.E1052A;	0.999791736136572	0.996
18	8819256	A	G	18	8819258	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.A3155G:p.E1052G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon7:c.A1130G:p.E377G;ENSG00000168502:ENST00000306329:exon11:c.A4112G:p.E1371G;ENSG00000168502:ENST00000517570:exon11:c.A3032G:p.E1011G;ENSG00000168502:ENST00000306285:exon14:c.A1130G:p.E377G;ENSG00000168502:ENST00000400050:exon12:c.A3032G:p.E1011G;ENSG00000168502:ENST00000359865:exon13:c.A3155G:p.E1052G;	0.999974226008095	0.998
18	8819256	A	T	18	8819258	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.A3155T:p.E1052V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon7:c.A1130T:p.E377V;ENSG00000168502:ENST00000306329:exon11:c.A4112T:p.E1371V;ENSG00000168502:ENST00000517570:exon11:c.A3032T:p.E1011V;ENSG00000168502:ENST00000306285:exon14:c.A1130T:p.E377V;ENSG00000168502:ENST00000400050:exon12:c.A3032T:p.E1011V;ENSG00000168502:ENST00000359865:exon13:c.A3155T:p.E1052V;	0.999982691845944	0.998
18	8819257	G	A	18	8819259	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon13:c.G3156A:p.E1052E;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon7:c.G1131A:p.E377E;ENSG00000168502:ENST00000306329:exon11:c.G4113A:p.E1371E;ENSG00000168502:ENST00000517570:exon11:c.G3033A:p.E1011E;ENSG00000168502:ENST00000306285:exon14:c.G1131A:p.E377E;ENSG00000168502:ENST00000400050:exon12:c.G3033A:p.E1011E;ENSG00000168502:ENST00000359865:exon13:c.G3156A:p.E1052E;	0.999992186463185	0.996
18	8819257	G	C	18	8819259	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.G3156C:p.E1052D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon7:c.G1131C:p.E377D;ENSG00000168502:ENST00000306329:exon11:c.G4113C:p.E1371D;ENSG00000168502:ENST00000517570:exon11:c.G3033C:p.E1011D;ENSG00000168502:ENST00000306285:exon14:c.G1131C:p.E377D;ENSG00000168502:ENST00000400050:exon12:c.G3033C:p.E1011D;ENSG00000168502:ENST00000359865:exon13:c.G3156C:p.E1052D;	0.999993484857373	0.974
18	8819257	G	T	18	8819259	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon13:c.G3156T:p.E1052D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon7:c.G1131T:p.E377D;ENSG00000168502:ENST00000306329:exon11:c.G4113T:p.E1371D;ENSG00000168502:ENST00000517570:exon11:c.G3033T:p.E1011D;ENSG00000168502:ENST00000306285:exon14:c.G1131T:p.E377D;ENSG00000168502:ENST00000400050:exon12:c.G3033T:p.E1011D;ENSG00000168502:ENST00000359865:exon13:c.G3156T:p.E1052D;	0.999985055623854	0.988
18	8819258	G	A	18	8819260	y	y	splicing	MTCL1(NM_015210:exon13:c.3156+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.4113+1G>A;ENST00000517570:exon11:c.3033+1G>A;ENST00000306285:exon14:c.1131+1G>A;ENST00000400050:exon12:c.3033+1G>A;ENST00000359865:exon13:c.3156+1G>A;ENST00000518815:exon7:c.1131+1G>A)	.	.	0.999992425382947	0.942
18	8819258	G	C	18	8819260	y	y	splicing	MTCL1(NM_015210:exon13:c.3156+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.4113+1G>C;ENST00000517570:exon11:c.3033+1G>C;ENST00000306285:exon14:c.1131+1G>C;ENST00000400050:exon12:c.3033+1G>C;ENST00000359865:exon13:c.3156+1G>C;ENST00000518815:exon7:c.1131+1G>C)	.	.	0.999992425382947	0.942
18	8819258	G	T	18	8819260	y	y	splicing	MTCL1(NM_015210:exon13:c.3156+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.4113+1G>T;ENST00000517570:exon11:c.3033+1G>T;ENST00000306285:exon14:c.1131+1G>T;ENST00000400050:exon12:c.3033+1G>T;ENST00000359865:exon13:c.3156+1G>T;ENST00000518815:exon7:c.1131+1G>T)	.	.	0.999992425382947	0.942
18	8819259	T	A	18	8819261	y	y	splicing	MTCL1(NM_015210:exon13:c.3156+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.4113+2T>A;ENST00000517570:exon11:c.3033+2T>A;ENST00000306285:exon14:c.1131+2T>A;ENST00000400050:exon12:c.3033+2T>A;ENST00000359865:exon13:c.3156+2T>A;ENST00000518815:exon7:c.1131+2T>A)	.	.	0.999990764389106	0.938
18	8819259	T	C	18	8819261	y	y	splicing	MTCL1(NM_015210:exon13:c.3156+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.4113+2T>C;ENST00000517570:exon11:c.3033+2T>C;ENST00000306285:exon14:c.1131+2T>C;ENST00000400050:exon12:c.3033+2T>C;ENST00000359865:exon13:c.3156+2T>C;ENST00000518815:exon7:c.1131+2T>C)	.	.	0.999933373721707	0.92
18	8819259	T	G	18	8819261	y	y	splicing	MTCL1(NM_015210:exon13:c.3156+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon11:c.4113+2T>G;ENST00000517570:exon11:c.3033+2T>G;ENST00000306285:exon14:c.1131+2T>G;ENST00000400050:exon12:c.3033+2T>G;ENST00000359865:exon13:c.3156+2T>G;ENST00000518815:exon7:c.1131+2T>G)	.	.	0.999990764389106	0.94
18	8819260	C	A	18	8819262	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.95044264320292E-4	0.114
18	8819260	C	G	18	8819262	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.4033529224953E-4	0.164
18	8819260	C	T	18	8819262	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.45499988517523E-4	0.028
18	8819261	A	C	18	8819263	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.957631757825149	0.696
18	8819261	A	G	18	8819263	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.36823152997631	0.568
18	8819261	A	T	18	8819263	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.547924611482735	0.632
18	8819262	G	A	18	8819264	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999974836157417	0.986
18	8819262	G	C	18	8819264	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999986458149645	0.986
18	8819262	G	T	18	8819264	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99997569845782	0.986
18	8819263	C	A	18	8819265	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0170914146385868	0.24
18	8819263	C	G	18	8819265	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.021096733894891	0.23
18	8819263	C	T	18	8819265	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00108629043834131	0.066
18	8819264	C	A	18	8819266	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.9344080434109E-4	0.014
18	8819264	C	G	18	8819266	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.616925007394E-4	0.02
18	8819264	C	T	18	8819266	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.47603022167188E-4	0.05
18	8819265	A	C	18	8819267	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.89187589783165E-5	0.0
18	8819265	A	G	18	8819267	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.89187589783165E-5	0.0
18	8819265	A	T	18	8819267	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.31763379622586E-4	0.0
18	8821453	T	A	18	8821455	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0165576081629936	0.382
18	8821453	T	C	18	8821455	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00799797165280373	0.114
18	8821453	T	G	18	8821455	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00617330371419982	0.206
18	8821454	C	A	18	8821456	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.28036843125824E-5	0.096
18	8821454	C	G	18	8821456	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.39901348088763E-5	0.082
18	8821454	C	T	18	8821456	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.99409510657502E-5	0.154
18	8821455	T	A	18	8821457	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0205723962726148	0.216
18	8821455	T	C	18	8821457	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0027311382496995	0.112
18	8821455	T	G	18	8821457	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00483470707959306	0.198
18	8821456	T	A	18	8821458	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.5875945186913E-4	0.25
18	8821456	T	C	18	8821458	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.72417910535448E-5	0.116
18	8821456	T	G	18	8821458	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.81271648798688E-5	0.142
18	8821457	C	A	18	8821459	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0142792696533601	0.11
18	8821457	C	G	18	8821459	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00524096821495167	0.066
18	8821457	C	T	18	8821459	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00174712582166357	0.05
18	8821458	T	A	18	8821460	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.56408645919845E-4	0.048
18	8821458	T	C	18	8821460	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.0640262416184E-5	0.004
18	8821458	T	G	18	8821460	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.10223537972289E-4	0.05
18	8821459	T	A	18	8821461	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0113401577329794	0.098
18	8821459	T	C	18	8821461	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0031285859459006	0.086
18	8821459	T	G	18	8821461	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0452255848083008	0.186
18	8821460	T	A	18	8821462	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00561595134462876	0.262
18	8821460	T	C	18	8821462	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00354869997787446	0.082
18	8821460	T	G	18	8821462	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0242818509421351	0.334
18	8821461	A	C	18	8821463	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.02921533589495E-5	0.01
18	8821461	A	G	18	8821463	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.83063952821649E-4	0.016
18	8821461	A	T	18	8821463	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.2255516363133E-4	0.06
18	8821462	T	A	18	8821464	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00408522139257519	0.24
18	8821462	T	C	18	8821464	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.96230221912521E-5	0.014
18	8821462	T	G	18	8821464	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.983200143248643	0.598
18	8821463	A	C	18	8821465	y	y	splicing	MTCL1(NM_015210:exon14:c.3157-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4114-2A>C;ENST00000517570:exon12:c.3034-2A>C;ENST00000306285:exon15:c.1132-2A>C;ENST00000400050:exon13:c.3034-2A>C;ENST00000359865:exon14:c.3157-2A>C;ENST00000518815:exon8:c.1132-2A>C)	.	.	0.999988247793601	0.932
18	8821463	A	G	18	8821465	y	y	splicing	MTCL1(NM_015210:exon14:c.3157-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4114-2A>G;ENST00000517570:exon12:c.3034-2A>G;ENST00000306285:exon15:c.1132-2A>G;ENST00000400050:exon13:c.3034-2A>G;ENST00000359865:exon14:c.3157-2A>G;ENST00000518815:exon8:c.1132-2A>G)	.	.	0.999988247793601	0.932
18	8821463	A	T	18	8821465	y	y	splicing	MTCL1(NM_015210:exon14:c.3157-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4114-2A>T;ENST00000517570:exon12:c.3034-2A>T;ENST00000306285:exon15:c.1132-2A>T;ENST00000400050:exon13:c.3034-2A>T;ENST00000359865:exon14:c.3157-2A>T;ENST00000518815:exon8:c.1132-2A>T)	.	.	0.999988247793601	0.932
18	8821464	G	A	18	8821466	y	y	splicing	MTCL1(NM_015210:exon14:c.3157-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4114-1G>A;ENST00000517570:exon12:c.3034-1G>A;ENST00000306285:exon15:c.1132-1G>A;ENST00000400050:exon13:c.3034-1G>A;ENST00000359865:exon14:c.3157-1G>A;ENST00000518815:exon8:c.1132-1G>A)	.	.	0.999990361384395	0.938
18	8821464	G	C	18	8821466	y	y	splicing	MTCL1(NM_015210:exon14:c.3157-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4114-1G>C;ENST00000517570:exon12:c.3034-1G>C;ENST00000306285:exon15:c.1132-1G>C;ENST00000400050:exon13:c.3034-1G>C;ENST00000359865:exon14:c.3157-1G>C;ENST00000518815:exon8:c.1132-1G>C)	.	.	0.999990361384395	0.938
18	8821464	G	T	18	8821466	y	y	splicing	MTCL1(NM_015210:exon14:c.3157-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4114-1G>T;ENST00000517570:exon12:c.3034-1G>T;ENST00000306285:exon15:c.1132-1G>T;ENST00000400050:exon13:c.3034-1G>T;ENST00000359865:exon14:c.3157-1G>T;ENST00000518815:exon8:c.1132-1G>T)	.	.	0.999990361384395	0.938
18	8821465	G	A	18	8821467	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.G3157A:p.E1053K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.G1132A:p.E378K;ENSG00000168502:ENST00000306329:exon12:c.G4114A:p.E1372K;ENSG00000168502:ENST00000517570:exon12:c.G3034A:p.E1012K;ENSG00000168502:ENST00000306285:exon15:c.G1132A:p.E378K;ENSG00000168502:ENST00000400050:exon13:c.G3034A:p.E1012K;ENSG00000168502:ENST00000359865:exon14:c.G3157A:p.E1053K;	0.887165488971853	0.668
18	8821465	G	C	18	8821467	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.G3157C:p.E1053Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.G1132C:p.E378Q;ENSG00000168502:ENST00000306329:exon12:c.G4114C:p.E1372Q;ENSG00000168502:ENST00000517570:exon12:c.G3034C:p.E1012Q;ENSG00000168502:ENST00000306285:exon15:c.G1132C:p.E378Q;ENSG00000168502:ENST00000400050:exon13:c.G3034C:p.E1012Q;ENSG00000168502:ENST00000359865:exon14:c.G3157C:p.E1053Q;	0.985956111561437	0.876
18	8821465	G	T	18	8821467	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon14:c.G3157T:p.E1053X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon8:c.G1132T:p.E378X;ENSG00000168502:ENST00000306329:exon12:c.G4114T:p.E1372X;ENSG00000168502:ENST00000517570:exon12:c.G3034T:p.E1012X;ENSG00000168502:ENST00000306285:exon15:c.G1132T:p.E378X;ENSG00000168502:ENST00000400050:exon13:c.G3034T:p.E1012X;ENSG00000168502:ENST00000359865:exon14:c.G3157T:p.E1053X;	0.997107113610659	0.898
18	8821466	A	C	18	8821468	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.A3158C:p.E1053A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1133C:p.E378A;ENSG00000168502:ENST00000306329:exon12:c.A4115C:p.E1372A;ENSG00000168502:ENST00000517570:exon12:c.A3035C:p.E1012A;ENSG00000168502:ENST00000306285:exon15:c.A1133C:p.E378A;ENSG00000168502:ENST00000400050:exon13:c.A3035C:p.E1012A;ENSG00000168502:ENST00000359865:exon14:c.A3158C:p.E1053A;	0.918741146805298	0.872
18	8821466	A	G	18	8821468	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.A3158G:p.E1053G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1133G:p.E378G;ENSG00000168502:ENST00000306329:exon12:c.A4115G:p.E1372G;ENSG00000168502:ENST00000517570:exon12:c.A3035G:p.E1012G;ENSG00000168502:ENST00000306285:exon15:c.A1133G:p.E378G;ENSG00000168502:ENST00000400050:exon13:c.A3035G:p.E1012G;ENSG00000168502:ENST00000359865:exon14:c.A3158G:p.E1053G;	0.92423304549642	0.774
18	8821466	A	T	18	8821468	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.A3158T:p.E1053V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1133T:p.E378V;ENSG00000168502:ENST00000306329:exon12:c.A4115T:p.E1372V;ENSG00000168502:ENST00000517570:exon12:c.A3035T:p.E1012V;ENSG00000168502:ENST00000306285:exon15:c.A1133T:p.E378V;ENSG00000168502:ENST00000400050:exon13:c.A3035T:p.E1012V;ENSG00000168502:ENST00000359865:exon14:c.A3158T:p.E1053V;	0.851051201850804	0.834
18	8821494	A	C	18	8821496	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.A3186C:p.Q1062H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1161C:p.Q387H;ENSG00000168502:ENST00000306329:exon12:c.A4143C:p.Q1381H;ENSG00000168502:ENST00000517570:exon12:c.A3063C:p.Q1021H;ENSG00000168502:ENST00000306285:exon15:c.A1161C:p.Q387H;ENSG00000168502:ENST00000400050:exon13:c.A3063C:p.Q1021H;ENSG00000168502:ENST00000359865:exon14:c.A3186C:p.Q1062H;	6.38896371011294E-5	0.1
18	8821494	A	G	18	8821496	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon14:c.A3186G:p.Q1062Q;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1161G:p.Q387Q;ENSG00000168502:ENST00000306329:exon12:c.A4143G:p.Q1381Q;ENSG00000168502:ENST00000517570:exon12:c.A3063G:p.Q1021Q;ENSG00000168502:ENST00000306285:exon15:c.A1161G:p.Q387Q;ENSG00000168502:ENST00000400050:exon13:c.A3063G:p.Q1021Q;ENSG00000168502:ENST00000359865:exon14:c.A3186G:p.Q1062Q;	5.80989626019233E-5	0.014
18	8821494	A	T	18	8821496	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.A3186T:p.Q1062H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1161T:p.Q387H;ENSG00000168502:ENST00000306329:exon12:c.A4143T:p.Q1381H;ENSG00000168502:ENST00000517570:exon12:c.A3063T:p.Q1021H;ENSG00000168502:ENST00000306285:exon15:c.A1161T:p.Q387H;ENSG00000168502:ENST00000400050:exon13:c.A3063T:p.Q1021H;ENSG00000168502:ENST00000359865:exon14:c.A3186T:p.Q1062H;	6.82566348523729E-4	0.172
18	8821495	A	C	18	8821497	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon14:c.A3187C:p.R1063R;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1162C:p.R388R;ENSG00000168502:ENST00000306329:exon12:c.A4144C:p.R1382R;ENSG00000168502:ENST00000517570:exon12:c.A3064C:p.R1022R;ENSG00000168502:ENST00000306285:exon15:c.A1162C:p.R388R;ENSG00000168502:ENST00000400050:exon13:c.A3064C:p.R1022R;ENSG00000168502:ENST00000359865:exon14:c.A3187C:p.R1063R;	0.274322732740959	0.57
18	8821495	A	G	18	8821497	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.A3187G:p.R1063G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1162G:p.R388G;ENSG00000168502:ENST00000306329:exon12:c.A4144G:p.R1382G;ENSG00000168502:ENST00000517570:exon12:c.A3064G:p.R1022G;ENSG00000168502:ENST00000306285:exon15:c.A1162G:p.R388G;ENSG00000168502:ENST00000400050:exon13:c.A3064G:p.R1022G;ENSG00000168502:ENST00000359865:exon14:c.A3187G:p.R1063G;	0.523326233698648	0.544
18	8821495	A	T	18	8821497	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.A3187T:p.R1063W;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.A1162T:p.R388W;ENSG00000168502:ENST00000306329:exon12:c.A4144T:p.R1382W;ENSG00000168502:ENST00000517570:exon12:c.A3064T:p.R1022W;ENSG00000168502:ENST00000306285:exon15:c.A1162T:p.R388W;ENSG00000168502:ENST00000400050:exon13:c.A3064T:p.R1022W;ENSG00000168502:ENST00000359865:exon14:c.A3187T:p.R1063W;	0.551801325033848	0.54
18	8821496	G	A	18	8821498	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.G3188A:p.R1063K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.G1163A:p.R388K;ENSG00000168502:ENST00000306329:exon12:c.G4145A:p.R1382K;ENSG00000168502:ENST00000517570:exon12:c.G3065A:p.R1022K;ENSG00000168502:ENST00000306285:exon15:c.G1163A:p.R388K;ENSG00000168502:ENST00000400050:exon13:c.G3065A:p.R1022K;ENSG00000168502:ENST00000359865:exon14:c.G3188A:p.R1063K;	0.999895797987196	0.96
18	8821496	G	C	18	8821498	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.G3188C:p.R1063T;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.G1163C:p.R388T;ENSG00000168502:ENST00000306329:exon12:c.G4145C:p.R1382T;ENSG00000168502:ENST00000517570:exon12:c.G3065C:p.R1022T;ENSG00000168502:ENST00000306285:exon15:c.G1163C:p.R388T;ENSG00000168502:ENST00000400050:exon13:c.G3065C:p.R1022T;ENSG00000168502:ENST00000359865:exon14:c.G3188C:p.R1063T;	0.999801754514338	0.952
18	8821496	G	T	18	8821498	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon14:c.G3188T:p.R1063M;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon8:c.G1163T:p.R388M;ENSG00000168502:ENST00000306329:exon12:c.G4145T:p.R1382M;ENSG00000168502:ENST00000517570:exon12:c.G3065T:p.R1022M;ENSG00000168502:ENST00000306285:exon15:c.G1163T:p.R388M;ENSG00000168502:ENST00000400050:exon13:c.G3065T:p.R1022M;ENSG00000168502:ENST00000359865:exon14:c.G3188T:p.R1063M;	0.999802540285337	0.938
18	8821497	G	A	18	8821499	y	y	splicing	MTCL1(NM_015210:exon14:c.3188+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4145+1G>A;ENST00000517570:exon12:c.3065+1G>A;ENST00000306285:exon15:c.1163+1G>A;ENST00000400050:exon13:c.3065+1G>A;ENST00000359865:exon14:c.3188+1G>A;ENST00000518815:exon8:c.1163+1G>A)	.	.	0.999989072007339	0.928
18	8821497	G	C	18	8821499	y	y	splicing	MTCL1(NM_015210:exon14:c.3188+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4145+1G>C;ENST00000517570:exon12:c.3065+1G>C;ENST00000306285:exon15:c.1163+1G>C;ENST00000400050:exon13:c.3065+1G>C;ENST00000359865:exon14:c.3188+1G>C;ENST00000518815:exon8:c.1163+1G>C)	.	.	0.999989072007339	0.928
18	8821497	G	T	18	8821499	y	y	splicing	MTCL1(NM_015210:exon14:c.3188+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4145+1G>T;ENST00000517570:exon12:c.3065+1G>T;ENST00000306285:exon15:c.1163+1G>T;ENST00000400050:exon13:c.3065+1G>T;ENST00000359865:exon14:c.3188+1G>T;ENST00000518815:exon8:c.1163+1G>T)	.	.	0.999989072007339	0.928
18	8821498	T	A	18	8821500	y	y	splicing	MTCL1(NM_015210:exon14:c.3188+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4145+2T>A;ENST00000517570:exon12:c.3065+2T>A;ENST00000306285:exon15:c.1163+2T>A;ENST00000400050:exon13:c.3065+2T>A;ENST00000359865:exon14:c.3188+2T>A;ENST00000518815:exon8:c.1163+2T>A)	.	.	0.999988247793601	0.93
18	8821498	T	C	18	8821500	y	y	splicing	MTCL1(NM_015210:exon14:c.3188+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4145+2T>C;ENST00000517570:exon12:c.3065+2T>C;ENST00000306285:exon15:c.1163+2T>C;ENST00000400050:exon13:c.3065+2T>C;ENST00000359865:exon14:c.3188+2T>C;ENST00000518815:exon8:c.1163+2T>C)	.	.	0.99452460207795	0.656
18	8821498	T	G	18	8821500	y	y	splicing	MTCL1(NM_015210:exon14:c.3188+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon12:c.4145+2T>G;ENST00000517570:exon12:c.3065+2T>G;ENST00000306285:exon15:c.1163+2T>G;ENST00000400050:exon13:c.3065+2T>G;ENST00000359865:exon14:c.3188+2T>G;ENST00000518815:exon8:c.1163+2T>G)	.	.	0.999988247793601	0.93
18	8821499	A	C	18	8821501	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.707323375497238	0.448
18	8821499	A	G	18	8821501	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00213548068617402	0.088
18	8821499	A	T	18	8821501	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.402341297635666	0.412
18	8821500	A	C	18	8821502	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.17238541053713	0.31
18	8821500	A	G	18	8821502	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0966621619926043	0.292
18	8821500	A	T	18	8821502	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.121541645062937	0.336
18	8821501	G	A	18	8821503	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999334116323905	0.74
18	8821501	G	C	18	8821503	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.982225260976698	0.71
18	8821501	G	T	18	8821503	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999532080767737	0.782
18	8821502	T	A	18	8821504	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.936057317008431	0.538
18	8821502	T	C	18	8821504	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.941696214999527	0.53
18	8821502	T	G	18	8821504	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.912058672567505	0.48
18	8821503	A	C	18	8821505	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.54292714962599E-4	0.012
18	8821503	A	G	18	8821505	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.29415691567873E-5	0.002
18	8821503	A	T	18	8821505	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.11171066012356E-4	0.002
18	8821504	A	C	18	8821506	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.36055361832322E-5	0.02
18	8821504	A	G	18	8821506	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.26998613449113E-4	0.028
18	8821504	A	T	18	8821506	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.14813541722371E-5	0.02
18	8824685	T	A	18	8824687	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.991320564697117	0.952
18	8824685	T	C	18	8824687	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.18930866902771E-5	0.0
18	8824685	T	G	18	8824687	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.62340551792385E-4	0.03
18	8824686	G	A	18	8824688	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.36517399441569E-5	0.006
18	8824686	G	C	18	8824688	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.2644703973764E-5	0.004
18	8824686	G	T	18	8824688	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.78680397945807E-5	0.004
18	8824687	C	A	18	8824689	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0018715799264712	0.088
18	8824687	C	G	18	8824689	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.62631443343166E-4	0.034
18	8824687	C	T	18	8824689	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.68261540108812E-5	0.002
18	8824688	T	A	18	8824690	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00100050284333356	0.164
18	8824688	T	C	18	8824690	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.92605352615008E-5	0.006
18	8824688	T	G	18	8824690	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.4028370396423E-4	0.114
18	8824689	T	A	18	8824691	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.40159385428775E-4	0.182
18	8824689	T	C	18	8824691	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.30081568572069E-5	0.018
18	8824689	T	G	18	8824691	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.37902090912031E-5	0.062
18	8824690	T	A	18	8824692	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00358975497006657	0.156
18	8824690	T	C	18	8824692	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.27650912298961E-5	0.01
18	8824690	T	G	18	8824692	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.7713808744839E-4	0.092
18	8824691	T	A	18	8824693	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.43123476625321E-5	0.024
18	8824691	T	C	18	8824693	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.91209364749973E-5	0.0
18	8824691	T	G	18	8824693	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.27028712200268E-4	0.08
18	8824692	C	A	18	8824694	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.62857146172423E-4	0.068
18	8824692	C	G	18	8824694	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00107044141717894	0.09
18	8824692	C	T	18	8824694	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.00444978152562E-5	0.006
18	8824693	C	A	18	8824695	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.42542991665022E-5	0.034
18	8824693	C	G	18	8824695	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.15607726860703E-5	0.018
18	8824693	C	T	18	8824695	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.38009171552829E-4	0.034
18	8824694	C	A	18	8824696	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.61684174497054	0.56
18	8824694	C	G	18	8824696	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999777857026837	0.962
18	8824694	C	T	18	8824696	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.93616952001577E-4	0.022
18	8824695	A	C	18	8824697	y	y	splicing	MTCL1(NM_015210:exon15:c.3189-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.4146-2A>C;ENST00000517570:exon13:c.3066-2A>C;ENST00000306285:exon16:c.1164-2A>C;ENST00000400050:exon14:c.3066-2A>C;ENST00000359865:exon15:c.3189-2A>C;ENST00000518815:exon9:c.1164-2A>C)	.	.	0.99994568797423	0.944
18	8824695	A	G	18	8824697	y	y	splicing	MTCL1(NM_015210:exon15:c.3189-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.4146-2A>G;ENST00000517570:exon13:c.3066-2A>G;ENST00000306285:exon16:c.1164-2A>G;ENST00000400050:exon14:c.3066-2A>G;ENST00000359865:exon15:c.3189-2A>G;ENST00000518815:exon9:c.1164-2A>G)	.	.	0.99994568797423	0.944
18	8824695	A	T	18	8824697	y	y	splicing	MTCL1(NM_015210:exon15:c.3189-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.4146-2A>T;ENST00000517570:exon13:c.3066-2A>T;ENST00000306285:exon16:c.1164-2A>T;ENST00000400050:exon14:c.3066-2A>T;ENST00000359865:exon15:c.3189-2A>T;ENST00000518815:exon9:c.1164-2A>T)	.	.	0.99994568797423	0.944
18	8824696	G	A	18	8824698	y	y	splicing	MTCL1(NM_015210:exon15:c.3189-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.4146-1G>A;ENST00000517570:exon13:c.3066-1G>A;ENST00000306285:exon16:c.1164-1G>A;ENST00000400050:exon14:c.3066-1G>A;ENST00000359865:exon15:c.3189-1G>A;ENST00000518815:exon9:c.1164-1G>A)	.	.	0.99993314117114	0.934
18	8824696	G	C	18	8824698	y	y	splicing	MTCL1(NM_015210:exon15:c.3189-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.4146-1G>C;ENST00000517570:exon13:c.3066-1G>C;ENST00000306285:exon16:c.1164-1G>C;ENST00000400050:exon14:c.3066-1G>C;ENST00000359865:exon15:c.3189-1G>C;ENST00000518815:exon9:c.1164-1G>C)	.	.	0.99993314117114	0.946
18	8824696	G	T	18	8824698	y	y	splicing	MTCL1(NM_015210:exon15:c.3189-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.4146-1G>T;ENST00000517570:exon13:c.3066-1G>T;ENST00000306285:exon16:c.1164-1G>T;ENST00000400050:exon14:c.3066-1G>T;ENST00000359865:exon15:c.3189-1G>T;ENST00000518815:exon9:c.1164-1G>T)	.	.	0.99993314117114	0.946
18	8824697	G	A	18	8824699	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon15:c.G3189A:p.R1063R;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G1164A:p.R388R;ENSG00000168502:ENST00000306329:exon13:c.G4146A:p.R1382R;ENSG00000168502:ENST00000517570:exon13:c.G3066A:p.R1022R;ENSG00000168502:ENST00000306285:exon16:c.G1164A:p.R388R;ENSG00000168502:ENST00000400050:exon14:c.G3066A:p.R1022R;ENSG00000168502:ENST00000359865:exon15:c.G3189A:p.R1063R;	3.08517316979111E-4	0.144
18	8824697	G	C	18	8824699	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G3189C:p.R1063S;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G1164C:p.R388S;ENSG00000168502:ENST00000306329:exon13:c.G4146C:p.R1382S;ENSG00000168502:ENST00000517570:exon13:c.G3066C:p.R1022S;ENSG00000168502:ENST00000306285:exon16:c.G1164C:p.R388S;ENSG00000168502:ENST00000400050:exon14:c.G3066C:p.R1022S;ENSG00000168502:ENST00000359865:exon15:c.G3189C:p.R1063S;	0.158269510198541	0.412
18	8824697	G	T	18	8824699	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G3189T:p.R1063S;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G1164T:p.R388S;ENSG00000168502:ENST00000306329:exon13:c.G4146T:p.R1382S;ENSG00000168502:ENST00000517570:exon13:c.G3066T:p.R1022S;ENSG00000168502:ENST00000306285:exon16:c.G1164T:p.R388S;ENSG00000168502:ENST00000400050:exon14:c.G3066T:p.R1022S;ENSG00000168502:ENST00000359865:exon15:c.G3189T:p.R1063S;	0.635621881552303	0.582
18	8824698	G	A	18	8824700	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G3190A:p.A1064T;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G1165A:p.A389T;ENSG00000168502:ENST00000306329:exon13:c.G4147A:p.A1383T;ENSG00000168502:ENST00000517570:exon13:c.G3067A:p.A1023T;ENSG00000168502:ENST00000306285:exon16:c.G1165A:p.A389T;ENSG00000168502:ENST00000400050:exon14:c.G3067A:p.A1023T;ENSG00000168502:ENST00000359865:exon15:c.G3190A:p.A1064T;	0.00123928223475125	0.08
18	8824698	G	C	18	8824700	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G3190C:p.A1064P;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G1165C:p.A389P;ENSG00000168502:ENST00000306329:exon13:c.G4147C:p.A1383P;ENSG00000168502:ENST00000517570:exon13:c.G3067C:p.A1023P;ENSG00000168502:ENST00000306285:exon16:c.G1165C:p.A389P;ENSG00000168502:ENST00000400050:exon14:c.G3067C:p.A1023P;ENSG00000168502:ENST00000359865:exon15:c.G3190C:p.A1064P;	0.962676672667273	0.712
18	8824698	G	T	18	8824700	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G3190T:p.A1064S;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G1165T:p.A389S;ENSG00000168502:ENST00000306329:exon13:c.G4147T:p.A1383S;ENSG00000168502:ENST00000517570:exon13:c.G3067T:p.A1023S;ENSG00000168502:ENST00000306285:exon16:c.G1165T:p.A389S;ENSG00000168502:ENST00000400050:exon14:c.G3067T:p.A1023S;ENSG00000168502:ENST00000359865:exon15:c.G3190T:p.A1064S;	0.901066684344713	0.782
18	8826228	G	A	18	8826230	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G4720A:p.E1574K;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G2695A:p.E899K;ENSG00000168502:ENST00000306329:exon13:c.G5677A:p.E1893K;ENSG00000168502:ENST00000517570:exon13:c.G4597A:p.E1533K;ENSG00000168502:ENST00000306285:exon16:c.G2695A:p.E899K;ENSG00000168502:ENST00000400050:exon14:c.G4597A:p.E1533K;ENSG00000168502:ENST00000359865:exon15:c.G4720A:p.E1574K;	0.917283074486638	0.678
18	8826228	G	C	18	8826230	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G4720C:p.E1574Q;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G2695C:p.E899Q;ENSG00000168502:ENST00000306329:exon13:c.G5677C:p.E1893Q;ENSG00000168502:ENST00000517570:exon13:c.G4597C:p.E1533Q;ENSG00000168502:ENST00000306285:exon16:c.G2695C:p.E899Q;ENSG00000168502:ENST00000400050:exon14:c.G4597C:p.E1533Q;ENSG00000168502:ENST00000359865:exon15:c.G4720C:p.E1574Q;	0.853527771679505	0.574
18	8826228	G	T	18	8826230	y	y	exonic	MTCL1	stopgain SNV	MTCL1:NM_015210:exon15:c.G4720T:p.E1574X;	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon9:c.G2695T:p.E899X;ENSG00000168502:ENST00000306329:exon13:c.G5677T:p.E1893X;ENSG00000168502:ENST00000517570:exon13:c.G4597T:p.E1533X;ENSG00000168502:ENST00000306285:exon16:c.G2695T:p.E899X;ENSG00000168502:ENST00000400050:exon14:c.G4597T:p.E1533X;ENSG00000168502:ENST00000359865:exon15:c.G4720T:p.E1574X;	0.996559151887399	0.692
18	8826229	A	C	18	8826231	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.A4721C:p.E1574A;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.A2696C:p.E899A;ENSG00000168502:ENST00000306329:exon13:c.A5678C:p.E1893A;ENSG00000168502:ENST00000517570:exon13:c.A4598C:p.E1533A;ENSG00000168502:ENST00000306285:exon16:c.A2696C:p.E899A;ENSG00000168502:ENST00000400050:exon14:c.A4598C:p.E1533A;ENSG00000168502:ENST00000359865:exon15:c.A4721C:p.E1574A;	0.999254560303317	0.982
18	8826229	A	G	18	8826231	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.A4721G:p.E1574G;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.A2696G:p.E899G;ENSG00000168502:ENST00000306329:exon13:c.A5678G:p.E1893G;ENSG00000168502:ENST00000517570:exon13:c.A4598G:p.E1533G;ENSG00000168502:ENST00000306285:exon16:c.A2696G:p.E899G;ENSG00000168502:ENST00000400050:exon14:c.A4598G:p.E1533G;ENSG00000168502:ENST00000359865:exon15:c.A4721G:p.E1574G;	0.999913985058779	0.998
18	8826229	A	T	18	8826231	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.A4721T:p.E1574V;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.A2696T:p.E899V;ENSG00000168502:ENST00000306329:exon13:c.A5678T:p.E1893V;ENSG00000168502:ENST00000517570:exon13:c.A4598T:p.E1533V;ENSG00000168502:ENST00000306285:exon16:c.A2696T:p.E899V;ENSG00000168502:ENST00000400050:exon14:c.A4598T:p.E1533V;ENSG00000168502:ENST00000359865:exon15:c.A4721T:p.E1574V;	0.999916385480544	1.0
18	8826230	G	A	18	8826232	y	y	exonic	MTCL1	synonymous SNV	MTCL1:NM_015210:exon15:c.G4722A:p.E1574E;	exonic	ENSG00000168502	synonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G2697A:p.E899E;ENSG00000168502:ENST00000306329:exon13:c.G5679A:p.E1893E;ENSG00000168502:ENST00000517570:exon13:c.G4599A:p.E1533E;ENSG00000168502:ENST00000306285:exon16:c.G2697A:p.E899E;ENSG00000168502:ENST00000400050:exon14:c.G4599A:p.E1533E;ENSG00000168502:ENST00000359865:exon15:c.G4722A:p.E1574E;	0.999963322451401	0.99
18	8826230	G	C	18	8826232	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G4722C:p.E1574D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G2697C:p.E899D;ENSG00000168502:ENST00000306329:exon13:c.G5679C:p.E1893D;ENSG00000168502:ENST00000517570:exon13:c.G4599C:p.E1533D;ENSG00000168502:ENST00000306285:exon16:c.G2697C:p.E899D;ENSG00000168502:ENST00000400050:exon14:c.G4599C:p.E1533D;ENSG00000168502:ENST00000359865:exon15:c.G4722C:p.E1574D;	0.999997467131986	1.0
18	8826230	G	T	18	8826232	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon15:c.G4722T:p.E1574D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon9:c.G2697T:p.E899D;ENSG00000168502:ENST00000306329:exon13:c.G5679T:p.E1893D;ENSG00000168502:ENST00000517570:exon13:c.G4599T:p.E1533D;ENSG00000168502:ENST00000306285:exon16:c.G2697T:p.E899D;ENSG00000168502:ENST00000400050:exon14:c.G4599T:p.E1533D;ENSG00000168502:ENST00000359865:exon15:c.G4722T:p.E1574D;	0.999988453444263	0.992
18	8826231	G	A	18	8826233	y	y	splicing	MTCL1(NM_015210:exon15:c.4722+1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.5679+1G>A;ENST00000517570:exon13:c.4599+1G>A;ENST00000306285:exon16:c.2697+1G>A;ENST00000400050:exon14:c.4599+1G>A;ENST00000359865:exon15:c.4722+1G>A;ENST00000518815:exon9:c.2697+1G>A)	.	.	0.999990361384395	0.916
18	8826231	G	C	18	8826233	y	y	splicing	MTCL1(NM_015210:exon15:c.4722+1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.5679+1G>C;ENST00000517570:exon13:c.4599+1G>C;ENST00000306285:exon16:c.2697+1G>C;ENST00000400050:exon14:c.4599+1G>C;ENST00000359865:exon15:c.4722+1G>C;ENST00000518815:exon9:c.2697+1G>C)	.	.	0.999990361384395	0.924
18	8826231	G	T	18	8826233	y	y	splicing	MTCL1(NM_015210:exon15:c.4722+1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.5679+1G>T;ENST00000517570:exon13:c.4599+1G>T;ENST00000306285:exon16:c.2697+1G>T;ENST00000400050:exon14:c.4599+1G>T;ENST00000359865:exon15:c.4722+1G>T;ENST00000518815:exon9:c.2697+1G>T)	.	.	0.999990361384395	0.924
18	8826232	T	A	18	8826234	y	y	splicing	MTCL1(NM_015210:exon15:c.4722+2T>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.5679+2T>A;ENST00000517570:exon13:c.4599+2T>A;ENST00000306285:exon16:c.2697+2T>A;ENST00000400050:exon14:c.4599+2T>A;ENST00000359865:exon15:c.4722+2T>A;ENST00000518815:exon9:c.2697+2T>A)	.	.	0.999992446697775	0.938
18	8826232	T	C	18	8826234	y	y	splicing	MTCL1(NM_015210:exon15:c.4722+2T>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.5679+2T>C;ENST00000517570:exon13:c.4599+2T>C;ENST00000306285:exon16:c.2697+2T>C;ENST00000400050:exon14:c.4599+2T>C;ENST00000359865:exon15:c.4722+2T>C;ENST00000518815:exon9:c.2697+2T>C)	.	.	0.989838600809155	0.612
18	8826232	T	G	18	8826234	y	y	splicing	MTCL1(NM_015210:exon15:c.4722+2T>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon13:c.5679+2T>G;ENST00000517570:exon13:c.4599+2T>G;ENST00000306285:exon16:c.2697+2T>G;ENST00000400050:exon14:c.4599+2T>G;ENST00000359865:exon15:c.4722+2T>G;ENST00000518815:exon9:c.2697+2T>G)	.	.	0.999992446697775	0.938
18	8826233	A	C	18	8826235	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999882354260194	0.97
18	8826233	A	G	18	8826235	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.996359795747549	0.856
18	8826233	A	T	18	8826235	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999894660855839	0.972
18	8826234	A	C	18	8826236	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.96322165820745	0.676
18	8826234	A	G	18	8826236	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.993848393525564	0.838
18	8826234	A	T	18	8826236	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.956677599018817	0.65
18	8826235	T	A	18	8826237	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.29687762309402E-4	0.012
18	8826235	T	C	18	8826237	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.83604759070062E-4	0.002
18	8826235	T	G	18	8826237	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.6314465850369E-4	0.17
18	8826236	G	A	18	8826238	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.1735358595276E-4	0.008
18	8826236	G	C	18	8826238	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.91012556670472E-4	0.05
18	8826236	G	T	18	8826238	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.14010239235982E-4	0.008
18	8826237	A	C	18	8826239	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.65837336584479E-4	0.018
18	8826237	A	G	18	8826239	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.66217207753499E-5	0.028
18	8826237	A	T	18	8826239	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.43855531406591E-4	0.05
18	8826238	A	C	18	8826240	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.5090022062029E-5	0.004
18	8826238	A	G	18	8826240	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.15957576010098E-5	0.0
18	8826238	A	T	18	8826240	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.13140856650681E-5	0.0
18	8828894	T	A	18	8828896	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99998108261187	0.96
18	8828894	T	C	18	8828896	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0178345232636345	0.16
18	8828894	T	G	18	8828896	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.990734771801391	0.826
18	8828895	G	A	18	8828897	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	7.17291535483528E-4	0.12
18	8828895	G	C	18	8828897	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.70962680759803E-4	0.094
18	8828895	G	T	18	8828897	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.48504584534899E-5	0.158
18	8828896	T	A	18	8828898	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999812636978451	0.92
18	8828896	T	C	18	8828898	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.904178266355521	0.52
18	8828896	T	G	18	8828898	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999622169153917	0.932
18	8828897	T	A	18	8828899	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.921362837425736	0.578
18	8828897	T	C	18	8828899	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	5.27395166438373E-4	0.124
18	8828897	T	G	18	8828899	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.924353940736511	0.628
18	8828898	C	A	18	8828900	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.982641809822211	0.728
18	8828898	C	G	18	8828900	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.986211450735098	0.69
18	8828898	C	T	18	8828900	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.806248251068131	0.648
18	8828899	T	A	18	8828901	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999950173488138	0.938
18	8828899	T	C	18	8828901	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.58418434948885E-4	0.094
18	8828899	T	G	18	8828901	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0362120219464379	0.302
18	8828900	G	A	18	8828902	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.815183026060658	0.47
18	8828900	G	C	18	8828902	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0118545254928794	0.124
18	8828900	G	T	18	8828902	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0995250767076053	0.178
18	8828901	T	A	18	8828903	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999402035576097	0.896
18	8828901	T	C	18	8828903	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.986557686841458	0.55
18	8828901	T	G	18	8828903	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999309903197419	0.936
18	8828902	C	A	18	8828904	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.810627434300648	0.708
18	8828902	C	G	18	8828904	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.905658938677984	0.628
18	8828902	C	T	18	8828904	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.810627434300648	0.684
18	8828903	C	A	18	8828905	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99577379882279	0.884
18	8828903	C	G	18	8828905	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999882586769082	0.984
18	8828903	C	T	18	8828905	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0157133801925888	0.134
18	8828904	A	C	18	8828906	y	y	splicing	MTCL1(NM_015210:exon16:c.4723-2A>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon14:c.5680-2A>C;ENST00000517570:exon14:c.4600-2A>C;ENST00000400050:exon15:c.4600-2A>C;ENST00000359865:exon16:c.4723-2A>C)	.	.	0.999988247793601	0.932
18	8828904	A	G	18	8828906	y	y	splicing	MTCL1(NM_015210:exon16:c.4723-2A>G)	.	.	splicing	ENSG00000168502(ENST00000306329:exon14:c.5680-2A>G;ENST00000517570:exon14:c.4600-2A>G;ENST00000400050:exon15:c.4600-2A>G;ENST00000359865:exon16:c.4723-2A>G)	.	.	0.999988247793601	0.932
18	8828904	A	T	18	8828906	y	y	splicing	MTCL1(NM_015210:exon16:c.4723-2A>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon14:c.5680-2A>T;ENST00000517570:exon14:c.4600-2A>T;ENST00000400050:exon15:c.4600-2A>T;ENST00000359865:exon16:c.4723-2A>T)	.	.	0.999988247793601	0.932
18	8828905	G	A	18	8828907	y	y	splicing	MTCL1(NM_015210:exon16:c.4723-1G>A)	.	.	splicing	ENSG00000168502(ENST00000306329:exon14:c.5680-1G>A;ENST00000517570:exon14:c.4600-1G>A;ENST00000400050:exon15:c.4600-1G>A;ENST00000359865:exon16:c.4723-1G>A)	.	.	0.999990361384395	0.938
18	8828905	G	C	18	8828907	y	y	splicing	MTCL1(NM_015210:exon16:c.4723-1G>C)	.	.	splicing	ENSG00000168502(ENST00000306329:exon14:c.5680-1G>C;ENST00000517570:exon14:c.4600-1G>C;ENST00000400050:exon15:c.4600-1G>C;ENST00000359865:exon16:c.4723-1G>C)	.	.	0.999990361384395	0.938
18	8828905	G	T	18	8828907	y	y	splicing	MTCL1(NM_015210:exon16:c.4723-1G>T)	.	.	splicing	ENSG00000168502(ENST00000306329:exon14:c.5680-1G>T;ENST00000517570:exon14:c.4600-1G>T;ENST00000400050:exon15:c.4600-1G>T;ENST00000359865:exon16:c.4723-1G>T)	.	.	0.999990361384395	0.938
18	8828906	A	C	18	8828908	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon16:c.A4723C:p.N1575H;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon14:c.A5680C:p.N1894H;ENSG00000168502:ENST00000517570:exon14:c.A4600C:p.N1534H;ENSG00000168502:ENST00000400050:exon15:c.A4600C:p.N1534H;ENSG00000168502:ENST00000359865:exon16:c.A4723C:p.N1575H;	0.973363789607436	0.638
18	8828906	A	G	18	8828908	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon16:c.A4723G:p.N1575D;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon14:c.A5680G:p.N1894D;ENSG00000168502:ENST00000517570:exon14:c.A4600G:p.N1534D;ENSG00000168502:ENST00000400050:exon15:c.A4600G:p.N1534D;ENSG00000168502:ENST00000359865:exon16:c.A4723G:p.N1575D;	0.698501781543965	0.442
18	8828906	A	T	18	8828908	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon16:c.A4723T:p.N1575Y;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon14:c.A5680T:p.N1894Y;ENSG00000168502:ENST00000517570:exon14:c.A4600T:p.N1534Y;ENSG00000168502:ENST00000400050:exon15:c.A4600T:p.N1534Y;ENSG00000168502:ENST00000359865:exon16:c.A4723T:p.N1575Y;	0.962360340733884	0.624
18	8828907	A	C	18	8828909	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon16:c.A4724C:p.N1575T;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon14:c.A5681C:p.N1894T;ENSG00000168502:ENST00000517570:exon14:c.A4601C:p.N1534T;ENSG00000168502:ENST00000400050:exon15:c.A4601C:p.N1534T;ENSG00000168502:ENST00000359865:exon16:c.A4724C:p.N1575T;	0.949937273978176	0.878
18	8828907	A	G	18	8828909	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon16:c.A4724G:p.N1575S;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon14:c.A5681G:p.N1894S;ENSG00000168502:ENST00000517570:exon14:c.A4601G:p.N1534S;ENSG00000168502:ENST00000400050:exon15:c.A4601G:p.N1534S;ENSG00000168502:ENST00000359865:exon16:c.A4724G:p.N1575S;	0.869033251667063	0.546
18	8828907	A	T	18	8828909	y	y	exonic	MTCL1	nonsynonymous SNV	MTCL1:NM_015210:exon16:c.A4724T:p.N1575I;	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000306329:exon14:c.A5681T:p.N1894I;ENSG00000168502:ENST00000517570:exon14:c.A4601T:p.N1534I;ENSG00000168502:ENST00000400050:exon15:c.A4601T:p.N1534I;ENSG00000168502:ENST00000359865:exon16:c.A4724T:p.N1575I;	0.910453430765275	0.78
18	8828960	G	A	18	8828962	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	3.54660092582589E-5	0.006
18	8828960	G	C	18	8828962	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	7.15674446493956E-5	0.026
18	8828960	G	T	18	8828962	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	3.07863491492337E-4	0.014
18	8828961	C	A	18	8828963	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	0.934129741912258	0.564
18	8828961	C	G	18	8828963	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	0.973017328974231	0.828
18	8828961	C	T	18	8828963	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	0.99041147732304	0.754
18	8828962	T	A	18	8828964	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	0.0293547568627209	0.226
18	8828962	T	C	18	8828964	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	0.102925274503579	0.306
18	8828962	T	G	18	8828964	y	y	UTR3	MTCL1	.	.	UTR3	ENSG00000168502	.	.	0.00668298868562126	0.272
18	8828963	G	A	18	8828965	y	y	splicing	MTCL1(NM_015210:exon16:c.4779+1G>A)	.	.	splicing	ENSG00000168502(ENST00000517570:exon14:c.4656+1G>A;ENST00000400050:exon15:c.4656+1G>A;ENST00000359865:exon16:c.4779+1G>A)	.	.	0.999990361384395	0.938
18	8828963	G	C	18	8828965	y	y	splicing	MTCL1(NM_015210:exon16:c.4779+1G>C)	.	.	splicing	ENSG00000168502(ENST00000517570:exon14:c.4656+1G>C;ENST00000400050:exon15:c.4656+1G>C;ENST00000359865:exon16:c.4779+1G>C)	.	.	0.999990361384395	0.938
18	8828963	G	T	18	8828965	y	y	splicing	MTCL1(NM_015210:exon16:c.4779+1G>T)	.	.	splicing	ENSG00000168502(ENST00000517570:exon14:c.4656+1G>T;ENST00000400050:exon15:c.4656+1G>T;ENST00000359865:exon16:c.4779+1G>T)	.	.	0.999990361384395	0.938
18	8828964	T	A	18	8828966	y	y	splicing	MTCL1(NM_015210:exon16:c.4779+2T>A)	.	.	splicing	ENSG00000168502(ENST00000517570:exon14:c.4656+2T>A;ENST00000400050:exon15:c.4656+2T>A;ENST00000359865:exon16:c.4779+2T>A)	.	.	0.999988247793601	0.93
18	8828964	T	C	18	8828966	y	y	splicing	MTCL1(NM_015210:exon16:c.4779+2T>C)	.	.	splicing	ENSG00000168502(ENST00000517570:exon14:c.4656+2T>C;ENST00000400050:exon15:c.4656+2T>C;ENST00000359865:exon16:c.4779+2T>C)	.	.	0.996388929962285	0.702
18	8828964	T	G	18	8828966	y	y	splicing	MTCL1(NM_015210:exon16:c.4779+2T>G)	.	.	splicing	ENSG00000168502(ENST00000517570:exon14:c.4656+2T>G;ENST00000400050:exon15:c.4656+2T>G;ENST00000359865:exon16:c.4779+2T>G)	.	.	0.999988247793601	0.93
18	8828965	A	C	18	8828967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999967586646592	0.974
18	8828965	A	G	18	8828967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99851838048216	0.686
18	8828965	A	T	18	8828967	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999967586646592	0.998
18	8828966	A	C	18	8828968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999916601000014	0.856
18	8828966	A	G	18	8828968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999833243055954	0.97
18	8828966	A	T	18	8828968	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.99986817533396	0.954
18	8828967	G	A	18	8828969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999994313366358	0.998
18	8828967	G	C	18	8828969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999991311435955	0.928
18	8828967	G	T	18	8828969	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999992763818477	0.936
18	8828968	T	A	18	8828970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999703228628872	0.814
18	8828968	T	C	18	8828970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.998862372022615	0.916
18	8828968	T	G	18	8828970	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999752978679143	0.94
18	8828969	G	A	18	8828971	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0204922021491219	0.242
18	8828969	G	C	18	8828971	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0224085503700386	0.236
18	8828969	G	T	18	8828971	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0571710270577875	0.248
18	8828970	C	A	18	8828972	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0112123425796482	0.228
18	8828970	C	G	18	8828972	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0112123425796482	0.186
18	8828970	C	T	18	8828972	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.101869078443737	0.276
18	8831593	T	A	18	8831595	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.187874218412145	0.626
18	8831593	T	C	18	8831595	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0040419872891317	0.132
18	8831593	T	G	18	8831595	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0806811090381189	0.528
18	8831594	C	A	18	8831596	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.991265664365547	0.812
18	8831594	C	G	18	8831596	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.54769930747061E-4	0.06
18	8831594	C	T	18	8831596	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.58645906776164E-5	0.008
18	8831595	G	A	18	8831597	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999276370590357	0.998
18	8831595	G	C	18	8831597	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	4.44404201443342E-5	0.01
18	8831595	G	T	18	8831597	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.87085342976694E-5	0.0
18	8831596	G	A	18	8831598	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00293030576137368	0.164
18	8831596	G	C	18	8831598	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.71585733462265E-4	0.006
18	8831596	G	T	18	8831598	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.72900758044474E-4	0.02
18	8831597	C	A	18	8831599	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.62136228179802E-4	0.14
18	8831597	C	G	18	8831599	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	8.04963641252047E-4	0.098
18	8831597	C	T	18	8831599	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.55726700444577E-4	0.122
18	8831598	T	A	18	8831600	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.125713745003324	0.462
18	8831598	T	C	18	8831600	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	6.35115215888327E-5	0.012
18	8831598	T	G	18	8831600	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.0839715867215783	0.438
18	8831599	C	A	18	8831601	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00164401300404759	0.26
18	8831599	C	G	18	8831601	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.00178020175063327	0.256
18	8831599	C	T	18	8831601	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	1.1708860699368E-4	0.012
18	8831600	T	A	18	8831602	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.999265497054105	0.926
18	8831600	T	C	18	8831602	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.69626240075711E-4	0.048
18	8831600	T	G	18	8831602	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.611576790871567	0.454
18	8831601	G	A	18	8831603	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.11648783335767E-4	0.008
18	8831601	G	C	18	8831603	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	9.5892247706866E-5	0.012
18	8831601	G	T	18	8831603	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.60660009557111E-4	0.006
18	8831602	A	C	18	8831604	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	2.59958480305074E-4	0.046
18	8831602	A	G	18	8831604	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	0.922890729093453	0.48
18	8831602	A	T	18	8831604	y	y	intronic	MTCL1	.	.	intronic	ENSG00000168502	.	.	3.56147760338811E-4	0.014
18	8831603	A	C	18	8831605	y	y	splicing	MTCL1(NM_015210:exon17:c.4780-2A>C)	.	.	splicing	ENSG00000168502(ENST00000517570:exon15:c.4657-2A>C;ENST00000306285:exon17:c.2698-2A>C;ENST00000400050:exon16:c.4657-2A>C;ENST00000359865:exon17:c.4780-2A>C;ENST00000518815:exon10:c.2698-2A>C)	.	.	0.999986741007567	0.946
18	8831603	A	G	18	8831605	y	y	splicing	MTCL1(NM_015210:exon17:c.4780-2A>G)	.	.	splicing	ENSG00000168502(ENST00000517570:exon15:c.4657-2A>G;ENST00000306285:exon17:c.2698-2A>G;ENST00000400050:exon16:c.4657-2A>G;ENST00000359865:exon17:c.4780-2A>G;ENST00000518815:exon10:c.2698-2A>G)	.	.	0.999986741007567	0.946
18	8831603	A	T	18	8831605	y	y	splicing	MTCL1(NM_015210:exon17:c.4780-2A>T)	.	.	splicing	ENSG00000168502(ENST00000517570:exon15:c.4657-2A>T;ENST00000306285:exon17:c.2698-2A>T;ENST00000400050:exon16:c.4657-2A>T;ENST00000359865:exon17:c.4780-2A>T;ENST00000518815:exon10:c.2698-2A>T)	.	.	0.999986741007567	0.946
18	8831604	G	A	18	8831606	y	y	splicing	MTCL1(NM_015210:exon17:c.4780-1G>A)	.	.	splicing	ENSG00000168502(ENST00000517570:exon15:c.4657-1G>A;ENST00000306285:exon17:c.2698-1G>A;ENST00000400050:exon16:c.4657-1G>A;ENST00000359865:exon17:c.4780-1G>A;ENST00000518815:exon10:c.2698-1G>A)	.	.	0.999989125585301	0.944
18	8831604	G	C	18	8831606	y	y	splicing	MTCL1(NM_015210:exon17:c.4780-1G>C)	.	.	splicing	ENSG00000168502(ENST00000517570:exon15:c.4657-1G>C;ENST00000306285:exon17:c.2698-1G>C;ENST00000400050:exon16:c.4657-1G>C;ENST00000359865:exon17:c.4780-1G>C;ENST00000518815:exon10:c.2698-1G>C)	.	.	0.999989125585301	0.944
18	8831604	G	T	18	8831606	y	y	splicing	MTCL1(NM_015210:exon17:c.4780-1G>T)	.	.	splicing	ENSG00000168502(ENST00000517570:exon15:c.4657-1G>T;ENST00000306285:exon17:c.2698-1G>T;ENST00000400050:exon16:c.4657-1G>T;ENST00000359865:exon17:c.4780-1G>T;ENST00000518815:exon10:c.2698-1G>T)	.	.	0.999989125585301	0.944
18	8831605	G	A	18	8831607	y	y	UTR3	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon10:c.G2698A:p.E900K;ENSG00000168502:ENST00000306285:exon17:c.G2698A:p.E900K;	0.999918164240292	0.946
18	8831605	G	C	18	8831607	y	y	UTR3	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon10:c.G2698C:p.E900Q;ENSG00000168502:ENST00000306285:exon17:c.G2698C:p.E900Q;	0.999936913076731	0.982
18	8831605	G	T	18	8831607	y	y	UTR3	MTCL1	.	.	exonic	ENSG00000168502	stopgain SNV	ENSG00000168502:ENST00000518815:exon10:c.G2698T:p.E900X;ENSG00000168502:ENST00000306285:exon17:c.G2698T:p.E900X;	0.999959397803957	0.992
18	8831606	A	C	18	8831608	y	y	UTR3	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon10:c.A2699C:p.E900A;ENSG00000168502:ENST00000306285:exon17:c.A2699C:p.E900A;	0.366323020468309	0.572
18	8831606	A	G	18	8831608	y	y	UTR3	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon10:c.A2699G:p.E900G;ENSG00000168502:ENST00000306285:exon17:c.A2699G:p.E900G;	0.479501787019511	0.462
18	8831606	A	T	18	8831608	y	y	UTR3	MTCL1	.	.	exonic	ENSG00000168502	nonsynonymous SNV	ENSG00000168502:ENST00000518815:exon10:c.A2699T:p.E900V;ENSG00000168502:ENST00000306285:exon17:c.A2699T:p.E900V;	0.0953872002969253	0.45
18	9102793	T	A	18	9102795	y	n	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon1:c.T52A:p.W18R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon1:c.T52A:p.W18R;ENSG00000178127:ENST00000577703:exon1:c.T52A:p.W18R;ENSG00000178127:ENST00000497577:exon1:c.T52A:p.W18R;	0.00100535795323061	0.008
18	9102793	T	C	18	9102795	y	n	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon1:c.T52C:p.W18R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon1:c.T52C:p.W18R;ENSG00000178127:ENST00000577703:exon1:c.T52C:p.W18R;ENSG00000178127:ENST00000497577:exon1:c.T52C:p.W18R;	6.44394805274599E-4	0.004
18	9102793	T	G	18	9102795	y	n	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon1:c.T52G:p.W18G;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon1:c.T52G:p.W18G;ENSG00000178127:ENST00000577703:exon1:c.T52G:p.W18G;ENSG00000178127:ENST00000497577:exon1:c.T52G:p.W18G;	0.00248262519248083	0.098
18	9102794	G	A	18	9102796	y	n	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon1:c.G53A:p.W18X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon1:c.G53A:p.W18X;ENSG00000178127:ENST00000577703:exon1:c.G53A:p.W18X;ENSG00000178127:ENST00000497577:exon1:c.G53A:p.W18X;	0.939311021758471	0.68
18	9102794	G	C	18	9102796	y	n	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon1:c.G53C:p.W18S;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon1:c.G53C:p.W18S;ENSG00000178127:ENST00000577703:exon1:c.G53C:p.W18S;ENSG00000178127:ENST00000497577:exon1:c.G53C:p.W18S;	0.0160440320622039	0.038
18	9102794	G	T	18	9102796	y	n	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon1:c.G53T:p.W18L;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon1:c.G53T:p.W18L;ENSG00000178127:ENST00000577703:exon1:c.G53T:p.W18L;ENSG00000178127:ENST00000497577:exon1:c.G53T:p.W18L;	0.0254259402815744	0.04
18	9102795	G	A	18	9102797	y	n	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon1:c.G54A:p.W18X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon1:c.G54A:p.W18X;ENSG00000178127:ENST00000577703:exon1:c.G54A:p.W18X;ENSG00000178127:ENST00000497577:exon1:c.G54A:p.W18X;	0.999985211967096	1.0
18	9102795	G	C	18	9102797	y	n	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon1:c.G54C:p.W18C;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon1:c.G54C:p.W18C;ENSG00000178127:ENST00000577703:exon1:c.G54C:p.W18C;ENSG00000178127:ENST00000497577:exon1:c.G54C:p.W18C;	0.999877870229522	0.892
18	9102795	G	T	18	9102797	y	n	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon1:c.G54T:p.W18C;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon1:c.G54T:p.W18C;ENSG00000178127:ENST00000577703:exon1:c.G54T:p.W18C;ENSG00000178127:ENST00000497577:exon1:c.G54T:p.W18C;	0.999929175871187	0.992
18	9102796	G	A	18	9102798	y	n	splicing	NDUFV2(NM_021074:exon1:c.54+1G>A)	.	.	exonic;splicing	ENSG00000178127;ENSG00000178127(ENST00000318388:exon1:c.54+1G>A;ENST00000497577:exon1:c.54+1G>A);ENSG00000265257(ENST00000578850:exon1:c.62+1G>A;ENST00000579126:exon1:c.62+1G>A)	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G55A:p.V19I;	0.999911255218052	0.896
18	9102796	G	C	18	9102798	y	n	splicing	NDUFV2(NM_021074:exon1:c.54+1G>C)	.	.	exonic;splicing	ENSG00000178127;ENSG00000178127(ENST00000318388:exon1:c.54+1G>C;ENST00000497577:exon1:c.54+1G>C);ENSG00000265257(ENST00000578850:exon1:c.62+1G>C;ENST00000579126:exon1:c.62+1G>C)	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G55C:p.V19L;	0.999947016792501	0.91
18	9102796	G	T	18	9102798	y	n	splicing	NDUFV2(NM_021074:exon1:c.54+1G>T)	.	.	exonic;splicing	ENSG00000178127;ENSG00000178127(ENST00000318388:exon1:c.54+1G>T;ENST00000497577:exon1:c.54+1G>T);ENSG00000265257(ENST00000578850:exon1:c.62+1G>T;ENST00000579126:exon1:c.62+1G>T)	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G55T:p.V19L;	0.999947016792501	0.912
18	9102797	T	A	18	9102799	y	n	splicing	NDUFV2(NM_021074:exon1:c.54+2T>A)	.	.	exonic;splicing	ENSG00000178127;ENSG00000178127(ENST00000318388:exon1:c.54+2T>A;ENST00000497577:exon1:c.54+2T>A);ENSG00000265257(ENST00000578850:exon1:c.62+2T>A;ENST00000579126:exon1:c.62+2T>A)	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.T56A:p.V19E;	0.999695726332608	0.842
18	9102797	T	C	18	9102799	y	n	splicing	NDUFV2(NM_021074:exon1:c.54+2T>C)	.	.	exonic;splicing	ENSG00000178127;ENSG00000178127(ENST00000318388:exon1:c.54+2T>C;ENST00000497577:exon1:c.54+2T>C);ENSG00000265257(ENST00000578850:exon1:c.62+2T>C;ENST00000579126:exon1:c.62+2T>C)	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.T56C:p.V19A;	0.989352598833635	0.758
18	9102797	T	G	18	9102799	y	n	splicing	NDUFV2(NM_021074:exon1:c.54+2T>G)	.	.	exonic;splicing	ENSG00000178127;ENSG00000178127(ENST00000318388:exon1:c.54+2T>G;ENST00000497577:exon1:c.54+2T>G);ENSG00000265257(ENST00000578850:exon1:c.62+2T>G;ENST00000579126:exon1:c.62+2T>G)	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.T56G:p.V19G;	0.999700248464521	0.826
18	9102798	A	C	18	9102800	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A57C:p.V19V;	0.999762284868343	0.89
18	9102798	A	G	18	9102800	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A57G:p.V19V;	0.676789848546843	0.52
18	9102798	A	T	18	9102800	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A57T:p.V19V;	0.999791277617233	0.956
18	9102799	A	C	18	9102801	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A58C:p.R20R;	0.97113759466745	0.794
18	9102799	A	G	18	9102801	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A58G:p.R20G;	0.996978727802611	0.906
18	9102799	A	T	18	9102801	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A58T:p.R20W;	0.991286006305766	0.876
18	9102800	G	A	18	9102802	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G59A:p.R20K;	0.999258135812343	1.0
18	9102800	G	C	18	9102802	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G59C:p.R20T;	0.99989393200404	0.952
18	9102800	G	T	18	9102802	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G59T:p.R20M;	0.999847335151275	0.924
18	9102801	G	A	18	9102803	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G60A:p.R20R;	7.87443086341581E-4	0.012
18	9102801	G	C	18	9102803	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G60C:p.R20S;	0.0023098147474587	0.034
18	9102801	G	T	18	9102803	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G60T:p.R20S;	8.21286724092587E-5	0.012
18	9102802	A	C	18	9102804	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A61C:p.R21R;	0.013217798198991	0.024
18	9102802	A	G	18	9102804	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A61G:p.R21G;	0.0141093000596345	0.044
18	9102802	A	T	18	9102804	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.A61T:p.R21W;	0.0217198827525086	0.026
18	9102803	G	A	18	9102805	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G62A:p.R21K;	1.02363114561346E-4	0.006
18	9102803	G	C	18	9102805	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G62C:p.R21T;	2.24271619346451E-4	0.006
18	9102803	G	T	18	9102805	y	n	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000577703:exon1:c.G62T:p.R21M;	1.55169560402906E-4	0.006
18	9103078	G	A	18	9103080	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	2.90414643571129E-5	0.0
18	9103078	G	C	18	9103080	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	2.90414643571129E-5	0.03
18	9103078	G	T	18	9103080	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	2.90414643571129E-5	0.0
18	9103079	T	A	18	9103081	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.69439264402225E-5	0.0
18	9103079	T	C	18	9103081	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.15941453541388E-5	0.0
18	9103079	T	G	18	9103081	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.15941453541388E-5	0.0
18	9103080	T	A	18	9103082	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.90065548738526E-4	0.002
18	9103080	T	C	18	9103082	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.46880476183243E-4	0.002
18	9103080	T	G	18	9103082	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.90065548738526E-4	0.002
18	9103081	T	A	18	9103083	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.0801321771862E-5	0.0
18	9103081	T	C	18	9103083	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	2.93185996500728E-5	0.0
18	9103081	T	G	18	9103083	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	2.93185996500728E-5	0.0
18	9103082	T	A	18	9103084	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.552751562108E-5	0.004
18	9103082	T	C	18	9103084	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.552751562108E-5	0.004
18	9103082	T	G	18	9103084	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.552751562108E-5	0.004
18	9103083	G	A	18	9103085	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.21996613615262E-4	0.016
18	9103083	G	C	18	9103085	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.57582429879139E-5	0.016
18	9103083	G	T	18	9103085	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.57582429879139E-5	0.016
18	9103084	C	A	18	9103086	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	8.35520562038957E-5	0.0
18	9103084	C	G	18	9103086	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	8.35520562038957E-5	0.0
18	9103084	C	T	18	9103086	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	8.35520562038957E-5	0.0
18	9103085	T	A	18	9103087	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	9.72398848989359E-5	0.0
18	9103085	T	C	18	9103087	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	8.81047034081164E-5	0.0
18	9103085	T	G	18	9103087	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	8.81047034081164E-5	0.0
18	9103086	G	A	18	9103088	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.552751562108E-5	0.004
18	9103086	G	C	18	9103088	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.552751562108E-5	0.006
18	9103086	G	T	18	9103088	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.552751562108E-5	0.004
18	9103087	T	A	18	9103089	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.69439264402225E-5	0.0
18	9103087	T	C	18	9103089	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.15941453541388E-5	0.002
18	9103087	T	G	18	9103089	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.15941453541388E-5	0.002
18	9103088	A	C	18	9103090	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000497577:exon2:c.55-2A>C)	.	.	1.01832711576123E-4	0.0
18	9103088	A	G	18	9103090	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000497577:exon2:c.55-2A>G)	.	.	1.01832711576123E-4	0.0
18	9103088	A	T	18	9103090	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000497577:exon2:c.55-2A>T)	.	.	1.12391128663913E-4	0.0
18	9103089	G	A	18	9103091	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000497577:exon2:c.55-1G>A)	.	.	6.09218706544067E-5	0.002
18	9103089	G	C	18	9103091	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000497577:exon2:c.55-1G>C)	.	.	6.09218706544067E-5	0.002
18	9103089	G	T	18	9103091	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000497577:exon2:c.55-1G>T)	.	.	6.09218706544067E-5	0.002
18	9103090	C	A	18	9103092	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000497577:exon2:c.C55A:p.R19S;	2.67894152125472E-4	0.002
18	9103090	C	G	18	9103092	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000497577:exon2:c.C55G:p.R19G;	1.7357792130175E-4	0.0
18	9103090	C	T	18	9103092	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000497577:exon2:c.C55T:p.R19C;	1.98561944552076E-4	0.004
18	9103091	G	A	18	9103093	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000497577:exon2:c.G56A:p.R19H;	8.93131076677124E-5	0.0
18	9103091	G	C	18	9103093	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000497577:exon2:c.G56C:p.R19P;	3.58662744131228E-5	0.0
18	9103091	G	T	18	9103093	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000497577:exon2:c.G56T:p.R19L;	8.93131076677124E-5	0.0
18	9103429	A	C	18	9103431	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.46004206284423E-5	0.0
18	9103429	A	G	18	9103431	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.46004206284423E-5	0.0
18	9103429	A	T	18	9103431	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	2.25524929795369E-5	0.0
18	9103430	T	A	18	9103432	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.36340088948343E-5	0.01
18	9103430	T	C	18	9103432	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.36340088948343E-5	0.006
18	9103430	T	G	18	9103432	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.36340088948343E-5	0.006
18	9103431	G	A	18	9103433	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.36389531769141E-5	0.004
18	9103431	G	C	18	9103433	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.36389531769141E-5	0.004
18	9103431	G	T	18	9103433	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.36389531769141E-5	0.004
18	9103432	G	A	18	9103434	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000577703:exon1:c.690+1G>A)	.	.	5.05991138181789E-5	0.024
18	9103432	G	C	18	9103434	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000577703:exon1:c.690+1G>C)	.	.	5.05991138181789E-5	0.018
18	9103432	G	T	18	9103434	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000577703:exon1:c.690+1G>T)	.	.	5.05991138181789E-5	0.018
18	9103433	T	A	18	9103435	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000577703:exon1:c.690+2T>A)	.	.	8.53292460361593E-5	0.022
18	9103433	T	C	18	9103435	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000577703:exon1:c.690+2T>C)	.	.	8.53292460361593E-5	0.008
18	9103433	T	G	18	9103435	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000577703:exon1:c.690+2T>G)	.	.	8.53292460361593E-5	0.008
18	9103434	A	C	18	9103436	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	8.53292460361593E-5	0.008
18	9103434	A	G	18	9103436	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	8.53292460361593E-5	0.008
18	9103434	A	T	18	9103436	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	8.53292460361593E-5	0.01
18	9103435	G	A	18	9103437	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	1.00675832680685E-4	0.002
18	9103435	G	C	18	9103437	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	2.32510510707312E-5	0.0
18	9103435	G	T	18	9103437	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	2.32510510707312E-5	0.0
18	9103436	G	A	18	9103438	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	3.10375415512646E-5	0.0
18	9103436	G	C	18	9103438	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	4.15042193520174E-5	0.026
18	9103436	G	T	18	9103438	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	3.10375415512646E-5	0.0
18	9103437	C	A	18	9103439	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	4.61589660129929E-5	0.008
18	9103437	C	G	18	9103439	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	3.24015432087519E-5	0.0
18	9103437	C	T	18	9103439	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.73477007530828E-5	0.006
18	9103438	A	C	18	9103440	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.52086759380612E-5	0.006
18	9103438	A	G	18	9103440	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.52086759380612E-5	0.006
18	9103438	A	T	18	9103440	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	5.52086759380612E-5	0.006
18	9103439	A	C	18	9103441	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	9.06619588578661E-5	0.078
18	9103439	A	G	18	9103441	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	9.06619588578661E-5	0.114
18	9103439	A	T	18	9103441	n	y	intronic	NDUFV2	.	.	ncRNA_UTR3	ENSG00000178127	.	.	6.77993525610891E-5	0.0
18	9104221	G	A	18	9104223	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon1:c.G25A:p.E9K;	1.07902708129146E-4	0.004
18	9104221	G	C	18	9104223	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon1:c.G25C:p.E9Q;	1.44101454748109E-4	0.038
18	9104221	G	T	18	9104223	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000400033:exon1:c.G25T:p.E9X;	0.0015986422845487	0.128
18	9104222	A	C	18	9104224	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon1:c.A26C:p.E9A;	2.3271890069336E-4	0.002
18	9104222	A	G	18	9104224	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon1:c.A26G:p.E9G;	2.464526461443E-4	0.002
18	9104222	A	T	18	9104224	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon1:c.A26T:p.E9V;	1.68551035521266E-4	0.0
18	9104223	G	A	18	9104225	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000400033:exon1:c.G27A:p.E9E;	8.30945796578933E-5	0.0
18	9104223	G	C	18	9104225	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon1:c.G27C:p.E9D;	1.40940918270023E-4	0.0
18	9104223	G	T	18	9104225	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon1:c.G27T:p.E9D;	1.40940918270023E-4	0.0
18	9104224	G	A	18	9104226	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon1:c.27+1G>A)	.	.	1.05089878083976E-4	0.018
18	9104224	G	C	18	9104226	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon1:c.27+1G>C)	.	.	5.05606112543448E-5	0.014
18	9104224	G	T	18	9104226	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon1:c.27+1G>T)	.	.	1.05089878083976E-4	0.02
18	9104225	T	A	18	9104227	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon1:c.27+2T>A)	.	.	4.52151296296804E-5	0.002
18	9104225	T	C	18	9104227	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon1:c.27+2T>C)	.	.	4.09672030971394E-5	0.002
18	9104225	T	G	18	9104227	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon1:c.27+2T>G)	.	.	4.52151296296804E-5	0.002
18	9104226	A	C	18	9104228	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.43346443961288E-5	0.002
18	9104226	A	G	18	9104228	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.43346443961288E-5	0.002
18	9104226	A	T	18	9104228	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.05808194911997E-5	0.002
18	9104227	A	C	18	9104229	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.28207984957438E-5	0.0
18	9104227	A	G	18	9104229	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.28207984957438E-5	0.0
18	9104227	A	T	18	9104229	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.2315363797163E-5	0.0
18	9104228	G	A	18	9104230	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.10529984002121E-5	0.006
18	9104228	G	C	18	9104230	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.80465223468383E-5	0.002
18	9104228	G	T	18	9104230	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.10529984002121E-5	0.002
18	9104229	G	A	18	9104231	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.87872098031522E-5	0.0
18	9104229	G	C	18	9104231	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.15849948155271E-5	0.0
18	9104229	G	T	18	9104231	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.87872098031522E-5	0.002
18	9104230	T	A	18	9104232	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.15941453541388E-5	0.002
18	9104230	T	C	18	9104232	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.15941453541388E-5	0.004
18	9104230	T	G	18	9104232	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.15941453541388E-5	0.004
18	9104231	G	A	18	9104233	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.89925739660516E-5	0.004
18	9104231	G	C	18	9104233	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.31929338280547E-5	0.0
18	9104231	G	T	18	9104233	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.31929338280547E-5	0.004
18	9104930	T	A	18	9104932	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.11335580643715E-4	0.068
18	9104930	T	C	18	9104932	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.11335580643715E-4	0.014
18	9104930	T	G	18	9104932	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.11335580643715E-4	0.016
18	9104931	A	C	18	9104933	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.45495379120052E-4	0.0
18	9104931	A	G	18	9104933	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.45495379120052E-4	0.0
18	9104931	A	T	18	9104933	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.55453923326756E-5	0.002
18	9104932	C	A	18	9104934	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.99825872905116E-5	0.0
18	9104932	C	G	18	9104934	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.15494709416875E-5	0.0
18	9104932	C	T	18	9104934	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.93131076677124E-5	0.0
18	9104933	A	C	18	9104935	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0013078655870363	0.004
18	9104933	A	G	18	9104935	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0013078655870363	0.004
18	9104933	A	T	18	9104935	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00125413928854168	0.012
18	9104934	C	A	18	9104936	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.45277156108894E-5	0.0
18	9104934	C	G	18	9104936	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.45277156108894E-5	0.0
18	9104934	C	T	18	9104936	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.45277156108894E-5	0.0
18	9104935	A	C	18	9104937	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.95623839174604E-5	0.01
18	9104935	A	G	18	9104937	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.95623839174604E-5	0.01
18	9104935	A	T	18	9104937	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.95853904142978E-5	0.008
18	9104936	T	A	18	9104938	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.07620641825897E-5	0.0
18	9104936	T	C	18	9104938	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.07620641825897E-5	0.0
18	9104936	T	G	18	9104938	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.07620641825897E-5	0.0
18	9104937	A	C	18	9104939	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.33852833132947E-5	0.008
18	9104937	A	G	18	9104939	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.33852833132947E-5	0.006
18	9104937	A	T	18	9104939	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.4879169611527E-5	0.0
18	9104938	A	C	18	9104940	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.95623839174604E-5	0.008
18	9104938	A	G	18	9104940	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.95623839174604E-5	0.008
18	9104938	A	T	18	9104940	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.95623839174604E-5	0.012
18	9104939	C	A	18	9104941	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.28482898384571E-5	0.0
18	9104939	C	G	18	9104941	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.28482898384571E-5	0.0
18	9104939	C	T	18	9104941	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.28482898384571E-5	0.002
18	9104940	A	C	18	9104942	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.28-2A>C)	.	.	3.16581026635165E-5	0.01
18	9104940	A	G	18	9104942	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.28-2A>G)	.	.	3.16581026635165E-5	0.01
18	9104940	A	T	18	9104942	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.28-2A>T)	.	.	3.16581026635165E-5	0.008
18	9104941	G	A	18	9104943	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.28-1G>A)	.	.	7.59435642788644E-4	0.004
18	9104941	G	C	18	9104943	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.28-1G>C)	.	.	7.59435642788644E-4	0.004
18	9104941	G	T	18	9104943	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.28-1G>T)	.	.	7.59435642788644E-4	0.004
18	9104942	A	C	18	9104944	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.A28C:p.T10P;	1.30176921285033E-4	0.002
18	9104942	A	G	18	9104944	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.A28G:p.T10A;	3.29827230923027E-5	0.004
18	9104942	A	T	18	9104944	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.A28T:p.T10S;	2.84596560644911E-4	0.002
18	9104943	C	A	18	9104945	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.C29A:p.T10N;	7.01315188657279E-5	0.0
18	9104943	C	G	18	9104945	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.C29G:p.T10S;	7.01315188657279E-5	0.0
18	9104943	C	T	18	9104945	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.C29T:p.T10I;	7.01315188657279E-5	0.0
18	9104975	A	C	18	9104977	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.A61C:p.K21Q;	1.36195737818257E-5	0.0
18	9104975	A	G	18	9104977	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.A61G:p.K21E;	2.175271902372E-4	0.0
18	9104975	A	T	18	9104977	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000400033:exon2:c.A61T:p.K21X;	1.81066147398031E-5	0.032
18	9104976	A	C	18	9104978	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.A62C:p.K21T;	6.27477746119029E-5	0.0
18	9104976	A	G	18	9104978	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.A62G:p.K21R;	3.36057955275112E-5	0.0
18	9104976	A	T	18	9104978	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.A62T:p.K21M;	6.27477746119029E-5	0.0
18	9104977	G	A	18	9104979	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.G63A:p.K21K;	8.71037690926497E-5	0.0
18	9104977	G	C	18	9104979	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.G63C:p.K21N;	1.03327158679741E-4	0.0
18	9104977	G	T	18	9104979	n	y	intronic	NDUFV2	.	.	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000400033:exon2:c.G63T:p.K21N;	1.2194139863653E-4	0.0
18	9104978	G	A	18	9104980	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.63+1G>A)	.	.	1.48519371611462E-5	0.0
18	9104978	G	C	18	9104980	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.63+1G>C)	.	.	1.41589968156762E-5	0.0
18	9104978	G	T	18	9104980	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.63+1G>T)	.	.	1.41589968156762E-5	0.008
18	9104979	T	A	18	9104981	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.63+2T>A)	.	.	2.85159348457159E-4	0.0
18	9104979	T	C	18	9104981	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.63+2T>C)	.	.	2.85159348457159E-4	0.0
18	9104979	T	G	18	9104981	n	y	intronic	NDUFV2	.	.	splicing	ENSG00000178127(ENST00000400033:exon2:c.63+2T>G)	.	.	2.85159348457159E-4	0.0
18	9104980	A	C	18	9104982	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.06850435703539E-5	0.016
18	9104980	A	G	18	9104982	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.06850435703539E-5	0.01
18	9104980	A	T	18	9104982	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.53814986019981E-5	0.0
18	9104981	T	A	18	9104983	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.53814986019981E-5	0.0
18	9104981	T	C	18	9104983	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.06850435703539E-5	0.02
18	9104981	T	G	18	9104983	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.06850435703539E-5	0.034
18	9104982	T	A	18	9104984	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.54291542054858E-4	0.002
18	9104982	T	C	18	9104984	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.54291542054858E-4	0.004
18	9104982	T	G	18	9104984	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.54291542054858E-4	0.004
18	9104983	T	A	18	9104985	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.01209109375653E-5	0.004
18	9104983	T	C	18	9104985	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.02784891650442E-5	0.006
18	9104983	T	G	18	9104985	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.02784891650442E-5	0.006
18	9104984	A	C	18	9104986	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.40316979844049E-5	0.008
18	9104984	A	G	18	9104986	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.40316979844049E-5	0.008
18	9104984	A	T	18	9104986	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.40316979844049E-5	0.068
18	9104985	T	A	18	9104987	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.42544334184685E-5	0.008
18	9104985	T	C	18	9104987	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.42544334184685E-5	0.006
18	9104985	T	G	18	9104987	n	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.42544334184685E-5	0.006
18	9117824	T	A	18	9117826	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.454511254730733	0.532
18	9117824	T	C	18	9117826	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00704145330602437	0.096
18	9117824	T	G	18	9117826	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.288393433481646	0.548
18	9117825	T	A	18	9117827	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.741722281788993	0.63
18	9117825	T	C	18	9117827	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.232527533651451	0.328
18	9117825	T	G	18	9117827	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.614353005546412	0.488
18	9117826	T	A	18	9117828	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0179703859092044	0.298
18	9117826	T	C	18	9117828	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00170673114667086	0.074
18	9117826	T	G	18	9117828	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.190974234556946	0.442
18	9117827	A	C	18	9117829	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.22657220560285E-4	0.018
18	9117827	A	G	18	9117829	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.07084552482047E-4	0.038
18	9117827	A	T	18	9117829	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.10505285398634E-5	0.036
18	9117828	A	C	18	9117830	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00124424903449387	0.082
18	9117828	A	G	18	9117830	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.99793955639804	0.87
18	9117828	A	T	18	9117830	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0011500320007452	0.05
18	9117829	A	C	18	9117831	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.9663658961799E-4	0.038
18	9117829	A	G	18	9117831	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.996439328583068	0.99
18	9117829	A	T	18	9117831	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.75805832227718E-4	0.052
18	9117830	T	A	18	9117832	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.174824392272667	0.588
18	9117830	T	C	18	9117832	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.3475292992941E-4	0.1
18	9117830	T	G	18	9117832	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999894662712522	0.954
18	9117831	T	A	18	9117833	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.735628462490195	0.544
18	9117831	T	C	18	9117833	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.3664143670634E-4	0.13
18	9117831	T	G	18	9117833	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.811710630987369	0.51
18	9117832	T	A	18	9117834	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0181083189306548	0.07
18	9117832	T	C	18	9117834	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00131481644008569	0.08
18	9117832	T	G	18	9117834	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0236053893606181	0.124
18	9117833	T	A	18	9117835	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0158987845860876	0.348
18	9117833	T	C	18	9117835	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.25803469994071E-4	0.024
18	9117833	T	G	18	9117835	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.989098861551334	0.718
18	9117834	A	C	18	9117836	y	y	splicing	NDUFV2(NM_021074:exon2:c.55-2A>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.55-2A>C;ENST00000577703:exon2:c.691-2A>C;ENST00000400033:exon3:c.64-2A>C)	.	.	0.999954627007099	0.93
18	9117834	A	G	18	9117836	y	y	splicing	NDUFV2(NM_021074:exon2:c.55-2A>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.55-2A>G;ENST00000577703:exon2:c.691-2A>G;ENST00000400033:exon3:c.64-2A>G)	.	.	0.999954627007099	0.93
18	9117834	A	T	18	9117836	y	y	splicing	NDUFV2(NM_021074:exon2:c.55-2A>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.55-2A>T;ENST00000577703:exon2:c.691-2A>T;ENST00000400033:exon3:c.64-2A>T)	.	.	0.999954627007099	0.93
18	9117835	G	A	18	9117837	y	y	splicing	NDUFV2(NM_021074:exon2:c.55-1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.55-1G>A;ENST00000577703:exon2:c.691-1G>A;ENST00000400033:exon3:c.64-1G>A)	.	.	0.999992568075586	0.924
18	9117835	G	C	18	9117837	y	y	splicing	NDUFV2(NM_021074:exon2:c.55-1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.55-1G>C;ENST00000577703:exon2:c.691-1G>C;ENST00000400033:exon3:c.64-1G>C)	.	.	0.999992568075586	0.924
18	9117835	G	T	18	9117837	y	y	splicing	NDUFV2(NM_021074:exon2:c.55-1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.55-1G>T;ENST00000577703:exon2:c.691-1G>T;ENST00000400033:exon3:c.64-1G>T)	.	.	0.999992568075586	0.924
18	9117836	G	A	18	9117838	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.G55A:p.G19R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G55A:p.G19R;ENSG00000178127:ENST00000400033:exon3:c.G64A:p.G22R;	0.998443047534744	0.856
18	9117836	G	C	18	9117838	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.G55C:p.G19R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G55C:p.G19R;ENSG00000178127:ENST00000400033:exon3:c.G64C:p.G22R;	0.999045200413157	0.896
18	9117836	G	T	18	9117838	y	y	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon2:c.G55T:p.G19X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon2:c.G55T:p.G19X;ENSG00000178127:ENST00000400033:exon3:c.G64T:p.G22X;	0.999925320065546	0.982
18	9117837	G	A	18	9117839	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.G56A:p.G19E;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G56A:p.G19E;ENSG00000178127:ENST00000400033:exon3:c.G65A:p.G22E;	0.00267530284851773	0.07
18	9117837	G	C	18	9117839	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.G56C:p.G19A;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G56C:p.G19A;ENSG00000178127:ENST00000400033:exon3:c.G65C:p.G22A;	0.00637321649783847	0.09
18	9117837	G	T	18	9117839	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.G56T:p.G19V;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G56T:p.G19V;ENSG00000178127:ENST00000400033:exon3:c.G65T:p.G22V;	0.00215288375285768	0.056
18	9117899	G	A	18	9117901	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.G118A:p.V40M;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G118A:p.V40M;ENSG00000178127:ENST00000400033:exon3:c.G127A:p.V43M;	0.951815214771858	0.714
18	9117899	G	C	18	9117901	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.G118C:p.V40L;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G118C:p.V40L;ENSG00000178127:ENST00000400033:exon3:c.G127C:p.V43L;	0.951815214771858	0.706
18	9117899	G	T	18	9117901	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.G118T:p.V40L;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G118T:p.V40L;ENSG00000178127:ENST00000400033:exon3:c.G127T:p.V43L;	0.98597176660256	0.844
18	9117900	T	A	18	9117902	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.T119A:p.V40E;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.T119A:p.V40E;ENSG00000178127:ENST00000400033:exon3:c.T128A:p.V43E;	0.757561525152102	0.574
18	9117900	T	C	18	9117902	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.T119C:p.V40A;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.T119C:p.V40A;ENSG00000178127:ENST00000400033:exon3:c.T128C:p.V43A;	0.943503887389569	0.72
18	9117900	T	G	18	9117902	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon2:c.T119G:p.V40G;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.T119G:p.V40G;ENSG00000178127:ENST00000400033:exon3:c.T128G:p.V43G;	0.957385997153179	0.76
18	9117901	G	A	18	9117903	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon2:c.G120A:p.V40V;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G120A:p.V40V;ENSG00000178127:ENST00000400033:exon3:c.G129A:p.V43V;	0.992846577776607	0.794
18	9117901	G	C	18	9117903	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon2:c.G120C:p.V40V;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G120C:p.V40V;ENSG00000178127:ENST00000400033:exon3:c.G129C:p.V43V;	0.99413068806433	0.772
18	9117901	G	T	18	9117903	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon2:c.G120T:p.V40V;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon2:c.G120T:p.V40V;ENSG00000178127:ENST00000400033:exon3:c.G129T:p.V43V;	0.979913291149319	0.758
18	9117902	G	A	18	9117904	y	y	splicing	NDUFV2(NM_021074:exon2:c.120+1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.120+1G>A;ENST00000400033:exon3:c.129+1G>A)	.	.	0.999989072007339	0.934
18	9117902	G	C	18	9117904	y	y	splicing	NDUFV2(NM_021074:exon2:c.120+1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.120+1G>C;ENST00000400033:exon3:c.129+1G>C)	.	.	0.999989072007339	0.934
18	9117902	G	T	18	9117904	y	y	splicing	NDUFV2(NM_021074:exon2:c.120+1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.120+1G>T;ENST00000400033:exon3:c.129+1G>T)	.	.	0.999989072007339	0.934
18	9117903	T	A	18	9117905	y	y	splicing	NDUFV2(NM_021074:exon2:c.120+2T>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.120+2T>A;ENST00000400033:exon3:c.129+2T>A)	.	.	0.999988247793601	0.93
18	9117903	T	C	18	9117905	y	y	splicing	NDUFV2(NM_021074:exon2:c.120+2T>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.120+2T>C;ENST00000400033:exon3:c.129+2T>C)	.	.	0.994669226766359	0.678
18	9117903	T	G	18	9117905	y	y	splicing	NDUFV2(NM_021074:exon2:c.120+2T>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon2:c.120+2T>G;ENST00000400033:exon3:c.129+2T>G)	.	.	0.999988247793601	0.93
18	9117904	A	C	18	9117906	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.989340720501133	0.822
18	9117904	A	G	18	9117906	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00592993476092475	0.11
18	9117904	A	T	18	9117906	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.966443941374659	0.69
18	9117905	A	C	18	9117907	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.991027528135466	0.856
18	9117905	A	G	18	9117907	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.996523525518896	0.846
18	9117905	A	T	18	9117907	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.997466567165784	0.832
18	9117906	G	A	18	9117908	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999915636858804	0.904
18	9117906	G	C	18	9117908	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999665558520714	0.882
18	9117906	G	T	18	9117908	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999396672167447	0.826
18	9117907	T	A	18	9117909	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0180818100605532	0.342
18	9117907	T	C	18	9117909	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0184883912648553	0.35
18	9117907	T	G	18	9117909	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0260341001349708	0.198
18	9117908	A	C	18	9117910	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.55950888534794E-4	0.004
18	9117908	A	G	18	9117910	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.2412550910291E-4	0.004
18	9117908	A	T	18	9117910	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.79741088705531E-4	0.004
18	9117909	A	C	18	9117911	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.03045457507872E-5	0.002
18	9117909	A	G	18	9117911	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.07049038472046E-5	0.002
18	9117909	A	T	18	9117911	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.03045457507872E-5	0.002
18	9119312	T	A	18	9119314	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0265003885530066	0.448
18	9119312	T	C	18	9119314	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.57922091545864E-4	0.126
18	9119312	T	G	18	9119314	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.029669472106755	0.434
18	9119313	T	A	18	9119315	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.947993385597382	0.572
18	9119313	T	C	18	9119315	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0107089109063357	0.26
18	9119313	T	G	18	9119315	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.613810738160017	0.654
18	9119314	T	A	18	9119316	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999172704006031	0.812
18	9119314	T	C	18	9119316	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.90750441389386E-4	0.06
18	9119314	T	G	18	9119316	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00361726782349753	0.122
18	9119315	G	A	18	9119317	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.74420882898971E-5	0.042
18	9119315	G	C	18	9119317	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.08510280949801E-4	0.058
18	9119315	G	T	18	9119317	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.31902710412298E-5	0.016
18	9119316	T	A	18	9119318	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.972826560823545	0.754
18	9119316	T	C	18	9119318	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00361125659965197	0.09
18	9119316	T	G	18	9119318	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.335219301198952	0.578
18	9119317	T	A	18	9119319	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999943065769707	0.976
18	9119317	T	C	18	9119319	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.81504344052643E-4	0.046
18	9119317	T	G	18	9119319	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0933390629772377	0.35
18	9119318	G	A	18	9119320	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.42020250634346E-4	0.022
18	9119318	G	C	18	9119320	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.48567774134042E-4	0.068
18	9119318	G	T	18	9119320	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.87420704927331E-4	0.044
18	9119319	T	A	18	9119321	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999509300316763	0.964
18	9119319	T	C	18	9119321	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0222974669955345	0.238
18	9119319	T	G	18	9119321	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.988823519005522	0.818
18	9119320	G	A	18	9119322	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.46802609249771E-5	0.0
18	9119320	G	C	18	9119322	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.74440011244594E-5	0.0
18	9119320	G	T	18	9119322	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.10641197782439E-5	0.0
18	9119321	T	A	18	9119323	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.78419731662231	0.396
18	9119321	T	C	18	9119323	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.16717843809224E-4	0.13
18	9119321	T	G	18	9119323	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999241792740067	0.798
18	9119322	A	C	18	9119324	y	y	splicing	NDUFV2(NM_021074:exon3:c.121-2A>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.121-2A>C;ENST00000400033:exon4:c.130-2A>C)	.	.	0.999986741007567	0.944
18	9119322	A	G	18	9119324	y	y	splicing	NDUFV2(NM_021074:exon3:c.121-2A>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.121-2A>G;ENST00000400033:exon4:c.130-2A>G)	.	.	0.999986741007567	0.944
18	9119322	A	T	18	9119324	y	y	splicing	NDUFV2(NM_021074:exon3:c.121-2A>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.121-2A>T;ENST00000400033:exon4:c.130-2A>T)	.	.	0.999986741007567	0.944
18	9119323	G	A	18	9119325	y	y	splicing	NDUFV2(NM_021074:exon3:c.121-1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.121-1G>A;ENST00000400033:exon4:c.130-1G>A)	.	.	0.999989125585301	0.944
18	9119323	G	C	18	9119325	y	y	splicing	NDUFV2(NM_021074:exon3:c.121-1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.121-1G>C;ENST00000400033:exon4:c.130-1G>C)	.	.	0.999989125585301	0.944
18	9119323	G	T	18	9119325	y	y	splicing	NDUFV2(NM_021074:exon3:c.121-1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.121-1G>T;ENST00000400033:exon4:c.130-1G>T)	.	.	0.999989125585301	0.944
18	9119324	C	A	18	9119326	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.C121A:p.H41N;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.C121A:p.H41N;ENSG00000178127:ENST00000400033:exon4:c.C130A:p.H44N;	0.971141037185985	0.778
18	9119324	C	G	18	9119326	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.C121G:p.H41D;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.C121G:p.H41D;ENSG00000178127:ENST00000400033:exon4:c.C130G:p.H44D;	0.974865636552299	0.704
18	9119324	C	T	18	9119326	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.C121T:p.H41Y;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.C121T:p.H41Y;ENSG00000178127:ENST00000400033:exon4:c.C130T:p.H44Y;	0.990031438999825	0.828
18	9119325	A	C	18	9119327	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.A122C:p.H41P;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.A122C:p.H41P;ENSG00000178127:ENST00000400033:exon4:c.A131C:p.H44P;	0.943075900529408	0.848
18	9119325	A	G	18	9119327	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.A122G:p.H41R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.A122G:p.H41R;ENSG00000178127:ENST00000400033:exon4:c.A131G:p.H44R;	0.878531932954063	0.738
18	9119325	A	T	18	9119327	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.A122T:p.H41L;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.A122T:p.H41L;ENSG00000178127:ENST00000400033:exon4:c.A131T:p.H44L;	0.910962086883732	0.768
18	9119384	A	C	18	9119386	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.A181C:p.K61Q;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.A181C:p.K61Q;ENSG00000178127:ENST00000400033:exon4:c.A190C:p.K64Q;	0.00206132626069275	0.084
18	9119384	A	G	18	9119386	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.A181G:p.K61E;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.A181G:p.K61E;ENSG00000178127:ENST00000400033:exon4:c.A190G:p.K64E;	0.00268644826318515	0.048
18	9119384	A	T	18	9119386	y	y	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon3:c.A181T:p.K61X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon3:c.A181T:p.K61X;ENSG00000178127:ENST00000400033:exon4:c.A190T:p.K64X;	0.562516877538941	0.57
18	9119385	A	C	18	9119387	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.A182C:p.K61T;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.A182C:p.K61T;ENSG00000178127:ENST00000400033:exon4:c.A191C:p.K64T;	0.99678244077738	0.96
18	9119385	A	G	18	9119387	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.A182G:p.K61R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.A182G:p.K61R;ENSG00000178127:ENST00000400033:exon4:c.A191G:p.K64R;	0.9998214017452	0.976
18	9119385	A	T	18	9119387	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.A182T:p.K61M;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.A182T:p.K61M;ENSG00000178127:ENST00000400033:exon4:c.A191T:p.K64M;	0.999452614273111	0.98
18	9119386	G	A	18	9119388	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon3:c.G183A:p.K61K;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.G183A:p.K61K;ENSG00000178127:ENST00000400033:exon4:c.G192A:p.K64K;	0.999971653424606	1.0
18	9119386	G	C	18	9119388	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.G183C:p.K61N;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.G183C:p.K61N;ENSG00000178127:ENST00000400033:exon4:c.G192C:p.K64N;	0.999997758162875	1.0
18	9119386	G	T	18	9119388	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon3:c.G183T:p.K61N;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon3:c.G183T:p.K61N;ENSG00000178127:ENST00000400033:exon4:c.G192T:p.K64N;	0.999985518265851	0.958
18	9119387	G	A	18	9119389	y	y	splicing	NDUFV2(NM_021074:exon3:c.183+1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.183+1G>A;ENST00000400033:exon4:c.192+1G>A)	.	.	0.999990361384395	0.938
18	9119387	G	C	18	9119389	y	y	splicing	NDUFV2(NM_021074:exon3:c.183+1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.183+1G>C;ENST00000400033:exon4:c.192+1G>C)	.	.	0.999990361384395	0.936
18	9119387	G	T	18	9119389	y	y	splicing	NDUFV2(NM_021074:exon3:c.183+1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.183+1G>T;ENST00000400033:exon4:c.192+1G>T)	.	.	0.999990361384395	0.938
18	9119388	T	A	18	9119390	y	y	splicing	NDUFV2(NM_021074:exon3:c.183+2T>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.183+2T>A;ENST00000400033:exon4:c.192+2T>A)	.	.	0.999988247793601	0.93
18	9119388	T	C	18	9119390	y	y	splicing	NDUFV2(NM_021074:exon3:c.183+2T>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.183+2T>C;ENST00000400033:exon4:c.192+2T>C)	.	.	0.994063255842726	0.69
18	9119388	T	G	18	9119390	y	y	splicing	NDUFV2(NM_021074:exon3:c.183+2T>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon3:c.183+2T>G;ENST00000400033:exon4:c.192+2T>G)	.	.	0.999988247793601	0.93
18	9119389	A	C	18	9119391	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.9986129974056	0.95
18	9119389	A	G	18	9119391	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999151650125585	0.91
18	9119389	A	T	18	9119391	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999843007504608	0.968
18	9119390	T	A	18	9119392	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.97601280743445E-5	0.014
18	9119390	T	C	18	9119392	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.99566304606124E-5	0.018
18	9119390	T	G	18	9119392	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.19652887268331E-4	0.018
18	9119391	G	A	18	9119393	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.956570574836416	0.53
18	9119391	G	C	18	9119393	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.986289733139942	0.574
18	9119391	G	T	18	9119393	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.992409380604268	0.6
18	9119392	G	A	18	9119394	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.36217615604225E-5	0.02
18	9119392	G	C	18	9119394	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.93624437757467E-5	0.022
18	9119392	G	T	18	9119394	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.1602764758226E-5	0.004
18	9119393	C	A	18	9119395	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.91130662832162E-5	0.01
18	9119393	C	G	18	9119395	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.555530682626E-5	0.01
18	9119393	C	T	18	9119395	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.27528139092215E-5	0.006
18	9119394	T	A	18	9119396	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.35102045741773E-5	0.0
18	9119394	T	C	18	9119396	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.2200436206694E-5	0.0
18	9119394	T	G	18	9119396	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.35102045741773E-5	0.0
18	9119460	T	A	18	9119462	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00132065095794053	0.102
18	9119460	T	C	18	9119462	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.92443559549857E-5	0.0
18	9119460	T	G	18	9119462	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00196706295445689	0.086
18	9119461	C	A	18	9119463	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.06957857861434E-4	0.064
18	9119461	C	G	18	9119463	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.75813863901358E-5	0.05
18	9119461	C	T	18	9119463	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.03817385619258E-5	0.0
18	9119462	T	A	18	9119464	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00231036214597801	0.164
18	9119462	T	C	18	9119464	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.77743374173163E-4	0.006
18	9119462	T	G	18	9119464	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00139870808595537	0.176
18	9119463	T	A	18	9119465	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0100693831631397	0.212
18	9119463	T	C	18	9119465	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00153823412285528	0.038
18	9119463	T	G	18	9119465	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00421206292383787	0.184
18	9119464	T	A	18	9119466	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.5986926598455E-4	0.06
18	9119464	T	C	18	9119466	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.40360789792902E-5	0.012
18	9119464	T	G	18	9119466	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.70180282519879E-4	0.132
18	9119465	T	A	18	9119467	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.78875326316945E-4	0.064
18	9119465	T	C	18	9119467	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.07791591517238E-5	0.07
18	9119465	T	G	18	9119467	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.23230203202434E-4	0.064
18	9119466	A	C	18	9119468	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.76246728441952E-5	0.002
18	9119466	A	G	18	9119468	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.13688187869802E-4	0.008
18	9119466	A	T	18	9119468	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.71926922752087E-5	0.002
18	9119467	T	A	18	9119469	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00202006910592474	0.158
18	9119467	T	C	18	9119469	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.9123015993816E-4	0.018
18	9119467	T	G	18	9119469	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.998855510160572	0.888
18	9119468	A	C	18	9119470	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.17055061845799E-4	0.0
18	9119468	A	G	18	9119470	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.5413379518037E-4	0.022
18	9119468	A	T	18	9119470	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.78112554066411E-5	0.01
18	9119469	C	A	18	9119471	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.936114391468017	0.612
18	9119469	C	G	18	9119471	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999428727565015	0.932
18	9119469	C	T	18	9119471	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00175903355431841	0.106
18	9119470	A	C	18	9119472	y	y	splicing	NDUFV2(NM_021074:exon4:c.184-2A>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.184-2A>C;ENST00000400033:exon5:c.193-2A>C)	.	.	0.999988247793601	0.928
18	9119470	A	G	18	9119472	y	y	splicing	NDUFV2(NM_021074:exon4:c.184-2A>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.184-2A>G;ENST00000400033:exon5:c.193-2A>G)	.	.	0.999988247793601	0.928
18	9119470	A	T	18	9119472	y	y	splicing	NDUFV2(NM_021074:exon4:c.184-2A>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.184-2A>T;ENST00000400033:exon5:c.193-2A>T)	.	.	0.999988247793601	0.928
18	9119471	G	A	18	9119473	y	y	splicing	NDUFV2(NM_021074:exon4:c.184-1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.184-1G>A;ENST00000400033:exon5:c.193-1G>A)	.	.	0.999990361384395	0.936
18	9119471	G	C	18	9119473	y	y	splicing	NDUFV2(NM_021074:exon4:c.184-1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.184-1G>C;ENST00000400033:exon5:c.193-1G>C)	.	.	0.999990361384395	0.936
18	9119471	G	T	18	9119473	y	y	splicing	NDUFV2(NM_021074:exon4:c.184-1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.184-1G>T;ENST00000400033:exon5:c.193-1G>T)	.	.	0.999990361384395	0.936
18	9119472	A	C	18	9119474	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon4:c.A184C:p.R62R;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.A184C:p.R62R;ENSG00000178127:ENST00000400033:exon5:c.A193C:p.R65R;	0.679367173442382	0.538
18	9119472	A	G	18	9119474	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.A184G:p.R62G;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.A184G:p.R62G;ENSG00000178127:ENST00000400033:exon5:c.A193G:p.R65G;	0.713248387380696	0.628
18	9119472	A	T	18	9119474	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.A184T:p.R62W;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.A184T:p.R62W;ENSG00000178127:ENST00000400033:exon5:c.A193T:p.R65W;	0.848604636200384	0.622
18	9119473	G	A	18	9119475	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.G185A:p.R62K;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.G185A:p.R62K;ENSG00000178127:ENST00000400033:exon5:c.G194A:p.R65K;	0.985393156049894	0.734
18	9119473	G	C	18	9119475	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.G185C:p.R62T;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.G185C:p.R62T;ENSG00000178127:ENST00000400033:exon5:c.G194C:p.R65T;	0.973248778164805	0.864
18	9119473	G	T	18	9119475	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.G185T:p.R62M;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.G185T:p.R62M;ENSG00000178127:ENST00000400033:exon5:c.G194T:p.R65M;	0.983874855569142	0.852
18	9119586	A	C	18	9119588	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.A298C:p.K100Q;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.A298C:p.K100Q;ENSG00000178127:ENST00000400033:exon5:c.A307C:p.K103Q;	0.916558395232935	0.788
18	9119586	A	G	18	9119588	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.A298G:p.K100E;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.A298G:p.K100E;ENSG00000178127:ENST00000400033:exon5:c.A307G:p.K103E;	0.875691826534709	0.534
18	9119586	A	T	18	9119588	y	y	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon4:c.A298T:p.K100X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon4:c.A298T:p.K100X;ENSG00000178127:ENST00000400033:exon5:c.A307T:p.K103X;	0.999158891213348	0.914
18	9119587	A	C	18	9119589	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.A299C:p.K100T;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.A299C:p.K100T;ENSG00000178127:ENST00000400033:exon5:c.A308C:p.K103T;	0.999895013675206	0.994
18	9119587	A	G	18	9119589	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.A299G:p.K100R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.A299G:p.K100R;ENSG00000178127:ENST00000400033:exon5:c.A308G:p.K103R;	0.999833788549152	0.96
18	9119587	A	T	18	9119589	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.A299T:p.K100M;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.A299T:p.K100M;ENSG00000178127:ENST00000400033:exon5:c.A308T:p.K103M;	0.999957369097882	0.998
18	9119588	G	A	18	9119590	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon4:c.G300A:p.K100K;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.G300A:p.K100K;ENSG00000178127:ENST00000400033:exon5:c.G309A:p.K103K;	0.999994233162681	0.998
18	9119588	G	C	18	9119590	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.G300C:p.K100N;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.G300C:p.K100N;ENSG00000178127:ENST00000400033:exon5:c.G309C:p.K103N;	0.999996687773079	1.0
18	9119588	G	T	18	9119590	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon4:c.G300T:p.K100N;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon4:c.G300T:p.K100N;ENSG00000178127:ENST00000400033:exon5:c.G309T:p.K103N;	0.999994342005323	1.0
18	9119589	G	A	18	9119591	y	y	splicing	NDUFV2(NM_021074:exon4:c.300+1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.300+1G>A;ENST00000400033:exon5:c.309+1G>A)	.	.	0.999990361384395	0.948
18	9119589	G	C	18	9119591	y	y	splicing	NDUFV2(NM_021074:exon4:c.300+1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.300+1G>C;ENST00000400033:exon5:c.309+1G>C)	.	.	0.999990361384395	0.948
18	9119589	G	T	18	9119591	y	y	splicing	NDUFV2(NM_021074:exon4:c.300+1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.300+1G>T;ENST00000400033:exon5:c.309+1G>T)	.	.	0.999990361384395	0.948
18	9119590	T	A	18	9119592	y	y	splicing	NDUFV2(NM_021074:exon4:c.300+2T>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.300+2T>A;ENST00000400033:exon5:c.309+2T>A)	.	.	0.999988247793601	0.95
18	9119590	T	C	18	9119592	y	y	splicing	NDUFV2(NM_021074:exon4:c.300+2T>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.300+2T>C;ENST00000400033:exon5:c.309+2T>C)	.	.	0.99231226973403	0.694
18	9119590	T	G	18	9119592	y	y	splicing	NDUFV2(NM_021074:exon4:c.300+2T>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon4:c.300+2T>G;ENST00000400033:exon5:c.309+2T>G)	.	.	0.999988247793601	0.95
18	9119591	A	C	18	9119593	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999957229592421	0.958
18	9119591	A	G	18	9119593	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.98569275699995	0.932
18	9119591	A	T	18	9119593	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999738290429335	0.9
18	9119592	C	A	18	9119594	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.05373271869372E-4	0.052
18	9119592	C	G	18	9119594	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0040888586783454	0.128
18	9119592	C	T	18	9119594	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0018912039634201	0.138
18	9119593	T	A	18	9119595	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.42750442696201E-4	0.036
18	9119593	T	C	18	9119595	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.03506944797858E-4	0.056
18	9119593	T	G	18	9119595	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.43455040775215E-4	0.092
18	9119594	G	A	18	9119596	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.26842580820446E-4	0.032
18	9119594	G	C	18	9119596	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.79314244622549E-4	0.054
18	9119594	G	T	18	9119596	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.43673631668907E-5	0.032
18	9119595	G	A	18	9119597	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.84185422642154E-4	0.034
18	9119595	G	C	18	9119597	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.11264730861806E-4	0.03
18	9119595	G	T	18	9119597	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.51161906261823E-4	0.004
18	9119596	A	C	18	9119598	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.61835105858354E-4	0.006
18	9119596	A	G	18	9119598	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.97188791974449E-4	0.002
18	9119596	A	T	18	9119598	y	y	intronic	NDUFV2	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00183066568947608	0.004
18	9122499	C	A	18	9122501	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00178972491487897	0.046
18	9122499	C	G	18	9122501	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00537873731236429	0.116
18	9122499	C	T	18	9122501	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.24694615722356E-4	0.0
18	9122500	T	A	18	9122502	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.927524874202961	0.736
18	9122500	T	C	18	9122502	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0972365629251241	0.296
18	9122500	T	G	18	9122502	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.507039310118392	0.736
18	9122501	A	C	18	9122503	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.56983083182326E-4	0.008
18	9122501	A	G	18	9122503	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00107774618343401	0.03
18	9122501	A	T	18	9122503	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.46386069538579E-4	0.012
18	9122502	A	C	18	9122504	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00358281984806039	0.04
18	9122502	A	G	18	9122504	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.998673760777334	0.904
18	9122502	A	T	18	9122504	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00457877652644269	0.08
18	9122503	T	A	18	9122505	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.946322232468269	0.656
18	9122503	T	C	18	9122505	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00304388598218259	0.026
18	9122503	T	G	18	9122505	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999914383527644	0.984
18	9122504	A	C	18	9122506	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	7.88910873470251E-5	0.004
18	9122504	A	G	18	9122506	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.39642914124162E-4	0.04
18	9122504	A	T	18	9122506	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	9.79582641390827E-5	0.01
18	9122505	T	A	18	9122507	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.19536217503994	0.46
18	9122505	T	C	18	9122507	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	6.03034103139609E-4	0.156
18	9122505	T	G	18	9122507	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.997749806239355	0.898
18	9122506	T	A	18	9122508	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999410542835092	0.928
18	9122506	T	C	18	9122508	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.578818075774858	0.468
18	9122506	T	G	18	9122508	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999151369091686	0.918
18	9122507	T	A	18	9122509	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0124833033589973	0.076
18	9122507	T	C	18	9122509	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.32746016172082E-4	0.072
18	9122507	T	G	18	9122509	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00706732457642929	0.086
18	9122508	T	A	18	9122510	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0275968894180148	0.294
18	9122508	T	C	18	9122510	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	7.0267964127702E-5	0.128
18	9122508	T	G	18	9122510	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.888869581133113	0.7
18	9122509	A	C	18	9122511	y	y	splicing	NDUFV2(NM_021074:exon5:c.301-2A>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.301-2A>C;ENST00000400033:exon6:c.310-2A>C)	.	.	0.999988247793601	0.952
18	9122509	A	G	18	9122511	y	y	splicing	NDUFV2(NM_021074:exon5:c.301-2A>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.301-2A>G;ENST00000400033:exon6:c.310-2A>G)	.	.	0.999988247793601	0.952
18	9122509	A	T	18	9122511	y	y	splicing	NDUFV2(NM_021074:exon5:c.301-2A>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.301-2A>T;ENST00000400033:exon6:c.310-2A>T)	.	.	0.999988247793601	0.952
18	9122510	G	A	18	9122512	y	y	splicing	NDUFV2(NM_021074:exon5:c.301-1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.301-1G>A;ENST00000400033:exon6:c.310-1G>A)	.	.	0.999989072007339	0.95
18	9122510	G	C	18	9122512	y	y	splicing	NDUFV2(NM_021074:exon5:c.301-1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.301-1G>C;ENST00000400033:exon6:c.310-1G>C)	.	.	0.999989072007339	0.95
18	9122510	G	T	18	9122512	y	y	splicing	NDUFV2(NM_021074:exon5:c.301-1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.301-1G>T;ENST00000400033:exon6:c.310-1G>T)	.	.	0.999989072007339	0.95
18	9122511	G	A	18	9122513	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.G301A:p.V101I;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.G301A:p.V101I;ENSG00000178127:ENST00000400033:exon6:c.G310A:p.V104I;	0.999793627388944	0.94
18	9122511	G	C	18	9122513	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.G301C:p.V101L;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.G301C:p.V101L;ENSG00000178127:ENST00000400033:exon6:c.G310C:p.V104L;	0.999881073032139	0.982
18	9122511	G	T	18	9122513	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.G301T:p.V101F;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.G301T:p.V101F;ENSG00000178127:ENST00000400033:exon6:c.G310T:p.V104F;	0.999913121948715	0.984
18	9122512	T	A	18	9122514	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.T302A:p.V101D;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T302A:p.V101D;ENSG00000178127:ENST00000400033:exon6:c.T311A:p.V104D;	0.921663779489632	0.456
18	9122512	T	C	18	9122514	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.T302C:p.V101A;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T302C:p.V101A;ENSG00000178127:ENST00000400033:exon6:c.T311C:p.V104A;	0.947152720525572	0.486
18	9122512	T	G	18	9122514	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.T302G:p.V101G;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T302G:p.V101G;ENSG00000178127:ENST00000400033:exon6:c.T311G:p.V104G;	0.908996749726345	0.436
18	9122677	T	A	18	9122679	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.T467A:p.L156H;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T467A:p.L156H;ENSG00000178127:ENST00000400033:exon6:c.T476A:p.L159H;	0.792333996523743	0.686
18	9122677	T	C	18	9122679	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.T467C:p.L156P;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T467C:p.L156P;ENSG00000178127:ENST00000400033:exon6:c.T476C:p.L159P;	0.792333996523743	0.65
18	9122677	T	G	18	9122679	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.T467G:p.L156R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T467G:p.L156R;ENSG00000178127:ENST00000400033:exon6:c.T476G:p.L159R;	0.723530598844765	0.602
18	9122678	T	A	18	9122680	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon5:c.T468A:p.L156L;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T468A:p.L156L;ENSG00000178127:ENST00000400033:exon6:c.T477A:p.L159L;	6.04609724421543E-4	0.21
18	9122678	T	C	18	9122680	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon5:c.T468C:p.L156L;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T468C:p.L156L;ENSG00000178127:ENST00000400033:exon6:c.T477C:p.L159L;	0.00197068023400625	0.234
18	9122678	T	G	18	9122680	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon5:c.T468G:p.L156L;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.T468G:p.L156L;ENSG00000178127:ENST00000400033:exon6:c.T477G:p.L159L;	7.79959231304533E-4	0.14
18	9122679	G	A	18	9122681	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.G469A:p.G157R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.G469A:p.G157R;ENSG00000178127:ENST00000400033:exon6:c.G478A:p.G160R;	0.999998198489976	1.0
18	9122679	G	C	18	9122681	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon5:c.G469C:p.G157R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon5:c.G469C:p.G157R;ENSG00000178127:ENST00000400033:exon6:c.G478C:p.G160R;	0.999998157784945	1.0
18	9122679	G	T	18	9122681	y	y	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon5:c.G469T:p.G157X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon5:c.G469T:p.G157X;ENSG00000178127:ENST00000400033:exon6:c.G478T:p.G160X;	0.999993897215374	0.986
18	9122680	G	A	18	9122682	y	y	splicing	NDUFV2(NM_021074:exon5:c.469+1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.469+1G>A;ENST00000400033:exon6:c.478+1G>A)	.	.	0.999992568075586	0.932
18	9122680	G	C	18	9122682	y	y	splicing	NDUFV2(NM_021074:exon5:c.469+1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.469+1G>C;ENST00000400033:exon6:c.478+1G>C)	.	.	0.999992568075586	0.932
18	9122680	G	T	18	9122682	y	y	splicing	NDUFV2(NM_021074:exon5:c.469+1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.469+1G>T;ENST00000400033:exon6:c.478+1G>T)	.	.	0.999992568075586	0.932
18	9122681	T	A	18	9122683	y	y	splicing	NDUFV2(NM_021074:exon5:c.469+2T>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.469+2T>A;ENST00000400033:exon6:c.478+2T>A)	.	.	0.999992007541056	0.936
18	9122681	T	C	18	9122683	y	y	splicing	NDUFV2(NM_021074:exon5:c.469+2T>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.469+2T>C;ENST00000400033:exon6:c.478+2T>C)	.	.	0.99994414147685	0.882
18	9122681	T	G	18	9122683	y	y	splicing	NDUFV2(NM_021074:exon5:c.469+2T>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon5:c.469+2T>G;ENST00000400033:exon6:c.478+2T>G)	.	.	0.999992007541056	0.936
18	9122682	A	C	18	9122684	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999988825856715	0.958
18	9122682	A	G	18	9122684	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999930179568577	0.95
18	9122682	A	T	18	9122684	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999983684963567	0.968
18	9122683	G	A	18	9122685	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	6.51606572445405E-5	0.002
18	9122683	G	C	18	9122685	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.49354673992949E-4	0.312
18	9122683	G	T	18	9122685	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.14961631101453E-4	0.126
18	9122684	G	A	18	9122686	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999982811177688	0.98
18	9122684	G	C	18	9122686	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999980513142649	0.994
18	9122684	G	T	18	9122686	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999972837147654	0.96
18	9122685	G	A	18	9122687	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.3427996246054E-4	0.058
18	9122685	G	C	18	9122687	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00156201938805148	0.294
18	9122685	G	T	18	9122687	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.75578243676329E-4	0.058
18	9122686	A	C	18	9122688	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.99665554634618E-4	0.068
18	9122686	A	G	18	9122688	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.38488911295948E-4	0.012
18	9122686	A	T	18	9122688	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00119330008373528	0.106
18	9122687	A	C	18	9122689	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.80223635192834E-4	0.14
18	9122687	A	G	18	9122689	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.1546828517929E-4	0.024
18	9122687	A	T	18	9122689	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.42031787229401E-4	0.008
18	9124860	T	A	18	9124862	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0286913176612076	0.256
18	9124860	T	C	18	9124862	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	4.41530691650417E-4	0.008
18	9124860	T	G	18	9124862	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00272231079613433	0.188
18	9124861	T	A	18	9124863	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.99996126643767	0.944
18	9124861	T	C	18	9124863	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.117585181894329	0.192
18	9124861	T	G	18	9124863	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.879486465283145	0.516
18	9124862	G	A	18	9124864	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.11281474932405E-4	0.0
18	9124862	G	C	18	9124864	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.48180292956664E-5	0.01
18	9124862	G	T	18	9124864	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.50189971163244E-5	0.0
18	9124863	T	A	18	9124865	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0198645345333053	0.2
18	9124863	T	C	18	9124865	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	9.82531137500452E-5	0.026
18	9124863	T	G	18	9124865	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0313071077487117	0.236
18	9124864	A	C	18	9124866	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.65096955710674E-5	0.0
18	9124864	A	G	18	9124866	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.19987717678375E-5	0.008
18	9124864	A	T	18	9124866	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.65096955710674E-5	0.0
18	9124865	T	A	18	9124867	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0696550901821337	0.25
18	9124865	T	C	18	9124867	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.74384031450572E-4	0.004
18	9124865	T	G	18	9124867	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999669324889372	0.966
18	9124866	T	A	18	9124868	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.653275588342117	0.484
18	9124866	T	C	18	9124868	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00110581586842311	0.024
18	9124866	T	G	18	9124868	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.808192166527034	0.512
18	9124867	T	A	18	9124869	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.360555179745848	0.488
18	9124867	T	C	18	9124869	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.006290915455648	0.112
18	9124867	T	G	18	9124869	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.815040873868945	0.518
18	9124868	T	A	18	9124870	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	6.01392871878677E-5	0.0
18	9124868	T	C	18	9124870	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.21289089392369E-5	0.0
18	9124868	T	G	18	9124870	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.03597563228784E-4	0.0
18	9124869	T	A	18	9124871	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00711870397212535	0.176
18	9124869	T	C	18	9124871	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	5.16199408593132E-5	0.008
18	9124869	T	G	18	9124871	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.993985173778667	0.63
18	9124870	A	C	18	9124872	y	y	splicing	NDUFV2(NM_021074:exon6:c.470-2A>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.470-2A>C;ENST00000400033:exon7:c.479-2A>C)	.	.	0.999983636037506	0.93
18	9124870	A	G	18	9124872	y	y	splicing	NDUFV2(NM_021074:exon6:c.470-2A>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.470-2A>G;ENST00000400033:exon7:c.479-2A>G)	.	.	0.999978952611685	0.928
18	9124870	A	T	18	9124872	y	y	splicing	NDUFV2(NM_021074:exon6:c.470-2A>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.470-2A>T;ENST00000400033:exon7:c.479-2A>T)	.	.	0.999988247793601	0.93
18	9124871	G	A	18	9124873	y	y	splicing	NDUFV2(NM_021074:exon6:c.470-1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.470-1G>A;ENST00000400033:exon7:c.479-1G>A)	.	.	0.999945302023892	0.908
18	9124871	G	C	18	9124873	y	y	splicing	NDUFV2(NM_021074:exon6:c.470-1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.470-1G>C;ENST00000400033:exon7:c.479-1G>C)	.	.	0.999945302023892	0.916
18	9124871	G	T	18	9124873	y	y	splicing	NDUFV2(NM_021074:exon6:c.470-1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.470-1G>T;ENST00000400033:exon7:c.479-1G>T)	.	.	0.999945302023892	0.916
18	9124872	G	A	18	9124874	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.G470A:p.G157E;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.G470A:p.G157E;ENSG00000178127:ENST00000400033:exon7:c.G479A:p.G160E;	0.825416938704041	0.632
18	9124872	G	C	18	9124874	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.G470C:p.G157A;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.G470C:p.G157A;ENSG00000178127:ENST00000400033:exon7:c.G479C:p.G160A;	0.994709027147348	0.94
18	9124872	G	T	18	9124874	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.G470T:p.G157V;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.G470T:p.G157V;ENSG00000178127:ENST00000400033:exon7:c.G479T:p.G160V;	0.999135997573893	0.964
18	9124873	A	C	18	9124875	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon6:c.A471C:p.G157G;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.A471C:p.G157G;ENSG00000178127:ENST00000400033:exon7:c.A480C:p.G160G;	1.51934773182315E-4	0.01
18	9124873	A	G	18	9124875	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon6:c.A471G:p.G157G;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.A471G:p.G157G;ENSG00000178127:ENST00000400033:exon7:c.A480G:p.G160G;	1.54675062340395E-4	0.024
18	9124873	A	T	18	9124875	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon6:c.A471T:p.G157G;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.A471T:p.G157G;ENSG00000178127:ENST00000400033:exon7:c.A480T:p.G160G;	2.02907129133458E-5	0.0
18	9124979	T	A	18	9124981	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.T577A:p.Y193N;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.T577A:p.Y193N;ENSG00000178127:ENST00000400033:exon7:c.T586A:p.Y196N;	0.760122258750658	0.65
18	9124979	T	C	18	9124981	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.T577C:p.Y193H;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.T577C:p.Y193H;ENSG00000178127:ENST00000400033:exon7:c.T586C:p.Y196H;	0.651262716215311	0.58
18	9124979	T	G	18	9124981	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.T577G:p.Y193D;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.T577G:p.Y193D;ENSG00000178127:ENST00000400033:exon7:c.T586G:p.Y196D;	0.747256621858676	0.72
18	9124980	A	C	18	9124982	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.A578C:p.Y193S;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.A578C:p.Y193S;ENSG00000178127:ENST00000400033:exon7:c.A587C:p.Y196S;	0.999571587106305	0.942
18	9124980	A	G	18	9124982	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.A578G:p.Y193C;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.A578G:p.Y193C;ENSG00000178127:ENST00000400033:exon7:c.A587G:p.Y196C;	0.999023357092261	0.946
18	9124980	A	T	18	9124982	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon6:c.A578T:p.Y193F;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.A578T:p.Y193F;ENSG00000178127:ENST00000400033:exon7:c.A587T:p.Y196F;	0.999554720804745	0.938
18	9124981	T	A	18	9124983	y	y	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon6:c.T579A:p.Y193X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon6:c.T579A:p.Y193X;ENSG00000178127:ENST00000400033:exon7:c.T588A:p.Y196X;	0.257237538883336	0.378
18	9124981	T	C	18	9124983	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon6:c.T579C:p.Y193Y;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon6:c.T579C:p.Y193Y;ENSG00000178127:ENST00000400033:exon7:c.T588C:p.Y196Y;	0.0246756991673882	0.388
18	9124981	T	G	18	9124983	y	y	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon6:c.T579G:p.Y193X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon6:c.T579G:p.Y193X;ENSG00000178127:ENST00000400033:exon7:c.T588G:p.Y196X;	0.0922906040830461	0.444
18	9124982	G	A	18	9124984	y	y	splicing	NDUFV2(NM_021074:exon6:c.579+1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.579+1G>A;ENST00000400033:exon7:c.588+1G>A)	.	.	0.999988247793601	0.928
18	9124982	G	C	18	9124984	y	y	splicing	NDUFV2(NM_021074:exon6:c.579+1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.579+1G>C;ENST00000400033:exon7:c.588+1G>C)	.	.	0.999988247793601	0.928
18	9124982	G	T	18	9124984	y	y	splicing	NDUFV2(NM_021074:exon6:c.579+1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.579+1G>T;ENST00000400033:exon7:c.588+1G>T)	.	.	0.999988247793601	0.928
18	9124983	T	A	18	9124985	y	y	splicing	NDUFV2(NM_021074:exon6:c.579+2T>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.579+2T>A;ENST00000400033:exon7:c.588+2T>A)	.	.	0.999992446697775	0.942
18	9124983	T	C	18	9124985	y	y	splicing	NDUFV2(NM_021074:exon6:c.579+2T>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.579+2T>C;ENST00000400033:exon7:c.588+2T>C)	.	.	0.999951700573546	0.88
18	9124983	T	G	18	9124985	y	y	splicing	NDUFV2(NM_021074:exon6:c.579+2T>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon6:c.579+2T>G;ENST00000400033:exon7:c.588+2T>G)	.	.	0.999992446697775	0.942
18	9124984	G	A	18	9124986	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.33566166846014E-4	0.02
18	9124984	G	C	18	9124986	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.998239930330443	0.732
18	9124984	G	T	18	9124986	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.998467606912881	0.724
18	9124985	A	C	18	9124987	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999695297728448	0.952
18	9124985	A	G	18	9124987	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999841571471309	0.988
18	9124985	A	T	18	9124987	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999793300004527	0.966
18	9124986	G	A	18	9124988	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999972255323498	0.998
18	9124986	G	C	18	9124988	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999972255323498	0.996
18	9124986	G	T	18	9124988	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999972255323498	0.972
18	9124987	T	A	18	9124989	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.99863401341123	0.764
18	9124987	T	C	18	9124989	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.994822193808541	0.9
18	9124987	T	G	18	9124989	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.998291949313317	0.898
18	9124988	A	C	18	9124990	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00213697110116785	0.006
18	9124988	A	G	18	9124990	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00165993440954938	0.008
18	9124988	A	T	18	9124990	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00682015010708303	0.168
18	9124989	T	A	18	9124991	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00855263676102447	0.174
18	9124989	T	C	18	9124991	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00109204773948316	0.008
18	9124989	T	G	18	9124991	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00173326865682727	0.06
18	9126817	T	A	18	9126819	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0105385519852987	0.16
18	9126817	T	C	18	9126819	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	6.55190795966438E-5	0.02
18	9126817	T	G	18	9126819	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.995965291090548	0.9
18	9126818	T	A	18	9126820	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.842537118868193	0.54
18	9126818	T	C	18	9126820	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00223225565789679	0.064
18	9126818	T	G	18	9126820	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.541088079615738	0.416
18	9126819	T	A	18	9126821	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.592225355311862	0.496
18	9126819	T	C	18	9126821	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	5.55088372620277E-5	0.032
18	9126819	T	G	18	9126821	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.220278524251635	0.334
18	9126820	T	A	18	9126822	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.515213491327095	0.432
18	9126820	T	C	18	9126822	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00135360962587032	0.056
18	9126820	T	G	18	9126822	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.514487236600829	0.422
18	9126821	T	A	18	9126823	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.263766020168779	0.41
18	9126821	T	C	18	9126823	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	6.40945169550974E-4	0.03
18	9126821	T	G	18	9126823	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.181785971120455	0.302
18	9126822	T	A	18	9126824	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0308234131956954	0.236
18	9126822	T	C	18	9126824	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.08820121933366E-4	0.004
18	9126822	T	G	18	9126824	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.011495955330722	0.17
18	9126823	T	A	18	9126825	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.133663930320395	0.508
18	9126823	T	C	18	9126825	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	5.66908223760779E-5	0.0
18	9126823	T	G	18	9126825	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.223921548330246	0.582
18	9126824	T	A	18	9126826	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0611987727736935	0.206
18	9126824	T	C	18	9126826	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.15230087565345E-4	0.08
18	9126824	T	G	18	9126826	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.117563955818741	0.166
18	9126825	C	A	18	9126827	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.1807659257492E-4	0.004
18	9126825	C	G	18	9126827	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.77080409106546E-4	0.008
18	9126825	C	T	18	9126827	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.50690214905144E-4	0.016
18	9126826	C	A	18	9126828	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.848546286124658	0.426
18	9126826	C	G	18	9126828	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.95170236796676	0.698
18	9126826	C	T	18	9126828	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00294611425729058	0.06
18	9126827	A	C	18	9126829	y	y	splicing	NDUFV2(NM_021074:exon7:c.580-2A>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.580-2A>C;ENST00000400033:exon8:c.589-2A>C)	.	.	0.999988247793601	0.928
18	9126827	A	G	18	9126829	y	y	splicing	NDUFV2(NM_021074:exon7:c.580-2A>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.580-2A>G;ENST00000400033:exon8:c.589-2A>G)	.	.	0.999988247793601	0.928
18	9126827	A	T	18	9126829	y	y	splicing	NDUFV2(NM_021074:exon7:c.580-2A>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.580-2A>T;ENST00000400033:exon8:c.589-2A>T)	.	.	0.999988247793601	0.928
18	9126828	G	A	18	9126830	y	y	splicing	NDUFV2(NM_021074:exon7:c.580-1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.580-1G>A;ENST00000400033:exon8:c.589-1G>A)	.	.	0.999985532734767	0.938
18	9126828	G	C	18	9126830	y	y	splicing	NDUFV2(NM_021074:exon7:c.580-1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.580-1G>C;ENST00000400033:exon8:c.589-1G>C)	.	.	0.999985532734767	0.938
18	9126828	G	T	18	9126830	y	y	splicing	NDUFV2(NM_021074:exon7:c.580-1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.580-1G>T;ENST00000400033:exon8:c.589-1G>T)	.	.	0.999985532734767	0.938
18	9126829	G	A	18	9126831	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.G580A:p.E194K;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.G580A:p.E194K;ENSG00000178127:ENST00000400033:exon8:c.G589A:p.E197K;	0.999128384269714	0.906
18	9126829	G	C	18	9126831	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.G580C:p.E194Q;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.G580C:p.E194Q;ENSG00000178127:ENST00000400033:exon8:c.G589C:p.E197Q;	0.999646473140843	0.948
18	9126829	G	T	18	9126831	y	y	exonic	NDUFV2	stopgain SNV	NDUFV2:NM_021074:exon7:c.G580T:p.E194X;	exonic	ENSG00000178127	stopgain SNV	ENSG00000178127:ENST00000318388:exon7:c.G580T:p.E194X;ENSG00000178127:ENST00000400033:exon8:c.G589T:p.E197X;	0.999780504782913	0.962
18	9126830	A	C	18	9126832	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.A581C:p.E194A;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A581C:p.E194A;ENSG00000178127:ENST00000400033:exon8:c.A590C:p.E197A;	0.864470418020073	0.868
18	9126830	A	G	18	9126832	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.A581G:p.E194G;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A581G:p.E194G;ENSG00000178127:ENST00000400033:exon8:c.A590G:p.E197G;	0.834667977205991	0.786
18	9126830	A	T	18	9126832	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.A581T:p.E194V;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A581T:p.E194V;ENSG00000178127:ENST00000400033:exon8:c.A590T:p.E197V;	0.76578504305465	0.824
18	9126903	A	C	18	9126905	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon7:c.A654C:p.P218P;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A654C:p.P218P;ENSG00000178127:ENST00000400033:exon8:c.A663C:p.P221P;	1.56734509459924E-4	0.004
18	9126903	A	G	18	9126905	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon7:c.A654G:p.P218P;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A654G:p.P218P;ENSG00000178127:ENST00000400033:exon8:c.A663G:p.P221P;	0.00144907560922072	0.096
18	9126903	A	T	18	9126905	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon7:c.A654T:p.P218P;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A654T:p.P218P;ENSG00000178127:ENST00000400033:exon8:c.A663T:p.P221P;	0.187654778186264	0.448
18	9126904	A	C	18	9126906	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon7:c.A655C:p.R219R;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A655C:p.R219R;ENSG00000178127:ENST00000400033:exon8:c.A664C:p.R222R;	0.999115974203391	0.972
18	9126904	A	G	18	9126906	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.A655G:p.R219G;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A655G:p.R219G;ENSG00000178127:ENST00000400033:exon8:c.A664G:p.R222G;	0.99987682668856	0.998
18	9126904	A	T	18	9126906	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.A655T:p.R219W;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.A655T:p.R219W;ENSG00000178127:ENST00000400033:exon8:c.A664T:p.R222W;	0.999875636028446	0.994
18	9126905	G	A	18	9126907	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.G656A:p.R219K;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.G656A:p.R219K;ENSG00000178127:ENST00000400033:exon8:c.G665A:p.R222K;	0.999947725811828	0.994
18	9126905	G	C	18	9126907	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.G656C:p.R219T;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.G656C:p.R219T;ENSG00000178127:ENST00000400033:exon8:c.G665C:p.R222T;	0.9999920355867	0.996
18	9126905	G	T	18	9126907	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon7:c.G656T:p.R219M;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon7:c.G656T:p.R219M;ENSG00000178127:ENST00000400033:exon8:c.G665T:p.R222M;	0.999739329727924	0.966
18	9126906	G	A	18	9126908	y	y	splicing	NDUFV2(NM_021074:exon7:c.656+1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.656+1G>A;ENST00000400033:exon8:c.665+1G>A)	.	.	0.999985532734767	0.938
18	9126906	G	C	18	9126908	y	y	splicing	NDUFV2(NM_021074:exon7:c.656+1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.656+1G>C;ENST00000400033:exon8:c.665+1G>C)	.	.	0.999985532734767	0.938
18	9126906	G	T	18	9126908	y	y	splicing	NDUFV2(NM_021074:exon7:c.656+1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.656+1G>T;ENST00000400033:exon8:c.665+1G>T)	.	.	0.999985532734767	0.938
18	9126907	T	A	18	9126909	y	y	splicing	NDUFV2(NM_021074:exon7:c.656+2T>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.656+2T>A;ENST00000400033:exon8:c.665+2T>A)	.	.	0.999988247793601	0.93
18	9126907	T	C	18	9126909	y	y	splicing	NDUFV2(NM_021074:exon7:c.656+2T>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.656+2T>C;ENST00000400033:exon8:c.665+2T>C)	.	.	0.99340600729494	0.666
18	9126907	T	G	18	9126909	y	y	splicing	NDUFV2(NM_021074:exon7:c.656+2T>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon7:c.656+2T>G;ENST00000400033:exon8:c.665+2T>G)	.	.	0.999988247793601	0.93
18	9126908	A	C	18	9126910	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999258606199065	0.934
18	9126908	A	G	18	9126910	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999758447084203	0.958
18	9126908	A	T	18	9126910	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999139932835845	0.956
18	9126909	T	A	18	9126911	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.46263720969064E-4	0.04
18	9126909	T	C	18	9126911	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00709529037602299	0.034
18	9126909	T	G	18	9126911	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.10237553651635E-4	0.0
18	9126910	G	A	18	9126912	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.147450636186999	0.388
18	9126910	G	C	18	9126912	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.420449375798326	0.446
18	9126910	G	T	18	9126912	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.977537886423419	0.548
18	9126911	C	A	18	9126913	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	5.73570838450105E-4	0.032
18	9126911	C	G	18	9126913	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.18227455771493E-4	0.042
18	9126911	C	T	18	9126913	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	2.32097551675146E-4	0.024
18	9126912	T	A	18	9126914	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00118586967828141	0.0
18	9126912	T	C	18	9126914	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	8.43101065152415E-4	0.002
18	9126912	T	G	18	9126914	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	6.00160851007356E-4	0.0
18	9126913	T	A	18	9126915	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	9.00420897201452E-4	0.016
18	9126913	T	C	18	9126915	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00118586967828141	0.006
18	9126913	T	G	18	9126915	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	6.88864756717333E-4	0.004
18	9134172	T	A	18	9134174	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.102829605934545	0.542
18	9134172	T	C	18	9134174	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.5477530097E-4	0.008
18	9134172	T	G	18	9134174	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.178186902837474	0.498
18	9134173	T	A	18	9134175	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999262616478422	0.922
18	9134173	T	C	18	9134175	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.740621007660979	0.368
18	9134173	T	G	18	9134175	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.998598594105565	0.836
18	9134174	T	A	18	9134176	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.110099863084554	0.378
18	9134174	T	C	18	9134176	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	5.59447653703887E-4	0.096
18	9134174	T	G	18	9134176	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.221808459614775	0.412
18	9134175	T	A	18	9134177	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.977496472356615	0.8
18	9134175	T	C	18	9134177	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0120340840291122	0.294
18	9134175	T	G	18	9134177	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.962865938419522	0.732
18	9134176	C	A	18	9134178	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00118016323770915	0.034
18	9134176	C	G	18	9134178	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00791874414961067	0.054
18	9134176	C	T	18	9134178	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.78557227224932E-5	0.0
18	9134177	A	C	18	9134179	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.66841139175067E-5	0.0
18	9134177	A	G	18	9134179	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	3.64745399314608E-5	0.0
18	9134177	A	T	18	9134179	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	1.75693776376732E-5	0.0
18	9134178	T	A	18	9134180	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.988221538175754	0.788
18	9134178	T	C	18	9134180	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00763905609300077	0.232
18	9134178	T	G	18	9134180	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.999918879832959	0.972
18	9134179	T	A	18	9134181	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.997134474180092	0.912
18	9134179	T	C	18	9134181	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.0999765101317975	0.412
18	9134179	T	G	18	9134181	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.993476128831328	0.896
18	9134180	T	A	18	9134182	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	4.84022747588614E-4	0.042
18	9134180	T	C	18	9134182	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	8.74356983946719E-5	0.0
18	9134180	T	G	18	9134182	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	9.68753351200715E-4	0.012
18	9134181	C	A	18	9134183	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.621277823004343	0.556
18	9134181	C	G	18	9134183	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.983110348145689	0.784
18	9134181	C	T	18	9134183	y	y	ncRNA_intronic	RP11-143J12.2	.	.	ncRNA_intronic	ENSG00000265257;ENSG00000266053	.	.	0.00146304315628276	0.07
18	9134182	A	C	18	9134184	y	y	splicing	NDUFV2(NM_021074:exon8:c.657-2A>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon8:c.657-2A>C;ENST00000400033:exon9:c.666-2A>C)	.	.	0.999981808176352	0.916
18	9134182	A	G	18	9134184	y	y	splicing	NDUFV2(NM_021074:exon8:c.657-2A>G)	.	.	splicing	ENSG00000178127(ENST00000318388:exon8:c.657-2A>G;ENST00000400033:exon9:c.666-2A>G)	.	.	0.999981808176352	0.916
18	9134182	A	T	18	9134184	y	y	splicing	NDUFV2(NM_021074:exon8:c.657-2A>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon8:c.657-2A>T;ENST00000400033:exon9:c.666-2A>T)	.	.	0.999981808176352	0.916
18	9134183	G	A	18	9134185	y	y	splicing	NDUFV2(NM_021074:exon8:c.657-1G>A)	.	.	splicing	ENSG00000178127(ENST00000318388:exon8:c.657-1G>A;ENST00000400033:exon9:c.666-1G>A)	.	.	0.999989072007339	0.934
18	9134183	G	C	18	9134185	y	y	splicing	NDUFV2(NM_021074:exon8:c.657-1G>C)	.	.	splicing	ENSG00000178127(ENST00000318388:exon8:c.657-1G>C;ENST00000400033:exon9:c.666-1G>C)	.	.	0.999989072007339	0.934
18	9134183	G	T	18	9134185	y	y	splicing	NDUFV2(NM_021074:exon8:c.657-1G>T)	.	.	splicing	ENSG00000178127(ENST00000318388:exon8:c.657-1G>T;ENST00000400033:exon9:c.666-1G>T)	.	.	0.999989072007339	0.934
18	9134184	G	A	18	9134186	y	y	exonic	NDUFV2	synonymous SNV	NDUFV2:NM_021074:exon8:c.G657A:p.R219R;	exonic	ENSG00000178127	synonymous SNV	ENSG00000178127:ENST00000318388:exon8:c.G657A:p.R219R;ENSG00000178127:ENST00000400033:exon9:c.G666A:p.R222R;	0.787048122877403	0.544
18	9134184	G	C	18	9134186	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon8:c.G657C:p.R219S;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon8:c.G657C:p.R219S;ENSG00000178127:ENST00000400033:exon9:c.G666C:p.R222S;	0.996996502666139	0.956
18	9134184	G	T	18	9134186	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon8:c.G657T:p.R219S;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon8:c.G657T:p.R219S;ENSG00000178127:ENST00000400033:exon9:c.G666T:p.R222S;	0.999255635561906	0.958
18	9134185	A	C	18	9134187	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon8:c.A658C:p.S220R;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon8:c.A658C:p.S220R;ENSG00000178127:ENST00000400033:exon9:c.A667C:p.S223R;	0.895890880327645	0.654
18	9134185	A	G	18	9134187	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon8:c.A658G:p.S220G;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon8:c.A658G:p.S220G;ENSG00000178127:ENST00000400033:exon9:c.A667G:p.S223G;	0.746084029899859	0.476
18	9134185	A	T	18	9134187	y	y	exonic	NDUFV2	nonsynonymous SNV	NDUFV2:NM_021074:exon8:c.A658T:p.S220C;	exonic	ENSG00000178127	nonsynonymous SNV	ENSG00000178127:ENST00000318388:exon8:c.A658T:p.S220C;ENSG00000178127:ENST00000400033:exon9:c.A667T:p.S223C;	0.866348480641127	0.698
18	9136961	C	A	18	9136963	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.00251657067646347	0.162
18	9136961	C	G	18	9136963	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.110912411120374	0.3
18	9136961	C	T	18	9136963	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.866311404162533	0.708
18	9136962	G	A	18	9136964	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	8.30201035098139E-4	0.132
18	9136962	G	C	18	9136964	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	6.27664970193248E-4	0.086
18	9136962	G	T	18	9136964	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	1.42292118644785E-4	0.026
18	9136963	G	A	18	9136965	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.999553849910058	0.794
18	9136963	G	C	18	9136965	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.999186982666949	0.744
18	9136963	G	T	18	9136965	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.997505913242429	0.756
18	9136964	G	A	18	9136966	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999851768417478	0.71
18	9136964	G	C	18	9136966	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999851768417478	0.714
18	9136964	G	T	18	9136966	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999851768417478	0.712
18	9136965	T	A	18	9136967	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999741255144026	0.76
18	9136965	T	C	18	9136967	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.91331572339232	0.732
18	9136965	T	G	18	9136967	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999692071678262	0.782
18	9136966	C	A	18	9136968	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	5.66947722845039E-4	0.0
18	9136966	C	G	18	9136968	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	9.21726991007455E-4	0.028
18	9136966	C	T	18	9136968	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	5.00503009130321E-4	0.042
18	9136967	C	A	18	9136969	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	4.10009828455353E-4	0.058
18	9136967	C	G	18	9136969	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	5.29851956076249E-5	0.042
18	9136967	C	T	18	9136969	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	7.05777406438358E-5	0.022
18	9136968	G	A	18	9136970	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.999863482782298	0.918
18	9136968	G	C	18	9136970	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.999947709788329	0.926
18	9136968	G	T	18	9136970	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.999863482782298	0.908
18	9136969	T	A	18	9136971	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.940998723340333	0.632
18	9136969	T	C	18	9136971	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.868475873411441	0.748
18	9136969	T	G	18	9136971	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.868561331325007	0.654
18	9136970	A	C	18	9136972	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	7.72439658483669E-5	0.014
18	9136970	A	G	18	9136972	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	6.17929415171309E-5	0.002
18	9136970	A	T	18	9136972	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	1.08308605485545E-4	0.012
18	9136971	C	A	18	9136973	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	1.97426430598944E-4	0.132
18	9136971	C	G	18	9136973	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	2.08930287432429E-4	0.078
18	9136971	C	T	18	9136973	y	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	1.47303481172833E-4	0.108
18	9137092	A	C	18	9137094	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	6.19909671294817E-5	0.0
18	9137092	A	G	18	9137094	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	6.19909671294817E-5	0.0
18	9137092	A	T	18	9137094	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	9.91219527972473E-5	0.0
18	9137093	A	C	18	9137095	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.0105957456958685	0.214
18	9137093	A	G	18	9137095	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.00904107185604236	0.194
18	9137093	A	T	18	9137095	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.0243581967151982	0.218
18	9137094	G	A	18	9137096	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.174470020928857	0.404
18	9137094	G	C	18	9137096	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.0669243616930838	0.3
18	9137094	G	T	18	9137096	n	y	intronic	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.12650191110391	0.332
18	9137095	G	A	18	9137097	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.432280797039901	0.69
18	9137095	G	C	18	9137097	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.432280797039901	0.644
18	9137095	G	T	18	9137097	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.432280797039901	0.654
18	9137096	T	A	18	9137098	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.412865840564857	0.502
18	9137096	T	C	18	9137098	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.412865840564857	0.526
18	9137096	T	G	18	9137098	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.412865840564857	0.526
18	9137097	A	C	18	9137099	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.10176230551741E-4	0.014
18	9137097	A	G	18	9137099	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.10176230551741E-4	0.014
18	9137097	A	T	18	9137099	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.81592956160457E-4	0.074
18	9137098	G	A	18	9137100	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.30870955723717E-4	0.0
18	9137098	G	C	18	9137100	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.30870955723717E-4	0.0
18	9137098	G	T	18	9137100	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.30870955723717E-4	0.0
18	9137099	G	A	18	9137101	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0222254700133601	0.2
18	9137099	G	C	18	9137101	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00441569569744403	0.094
18	9137099	G	T	18	9137101	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0161472842360854	0.158
18	9137100	G	A	18	9137102	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.65938700604379E-4	0.014
18	9137100	G	C	18	9137102	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.03780825005853E-4	0.014
18	9137100	G	T	18	9137102	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.38729817861612E-4	0.014
18	9137101	G	A	18	9137103	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.64618114614018E-4	0.012
18	9137101	G	C	18	9137103	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.95045924528898E-4	0.006
18	9137101	G	T	18	9137103	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.95045924528898E-4	0.006
18	9137102	A	C	18	9137104	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.24488743691315E-5	0.0
18	9137102	A	G	18	9137104	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.24488743691315E-5	0.0
18	9137102	A	T	18	9137104	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.36232061203922E-5	0.002
18	9137869	G	A	18	9137871	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	8.46054017672216E-5	0.0
18	9137869	G	C	18	9137871	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	3.15267776820636E-5	0.0
18	9137869	G	T	18	9137871	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	8.46054017672216E-5	0.002
18	9137870	A	C	18	9137872	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.00294682849973155	0.028
18	9137870	A	G	18	9137872	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.00294682849973155	0.028
18	9137870	A	T	18	9137872	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	0.00435466241603455	0.03
18	9137871	G	A	18	9137873	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	2.46039206459424E-4	0.002
18	9137871	G	C	18	9137873	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	2.46039206459424E-4	0.002
18	9137871	G	T	18	9137873	y	y	UTR5	ANKRD12	.	.	ncRNA_UTR5	ENSG00000101745	.	.	2.46039206459424E-4	0.002
18	9137872	G	A	18	9137874	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	3.39529611572298E-5	0.004
18	9137872	G	C	18	9137874	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	3.39529611572298E-5	0.004
18	9137872	G	T	18	9137874	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	3.39529611572298E-5	0.004
18	9137873	T	A	18	9137875	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	3.07620641825897E-5	0.0
18	9137873	T	C	18	9137875	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	3.07620641825897E-5	0.0
18	9137873	T	G	18	9137875	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	3.07620641825897E-5	0.0
18	9137874	A	C	18	9137876	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.99153316237132E-5	0.0
18	9137874	A	G	18	9137876	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.99153316237132E-5	0.0
18	9137874	A	T	18	9137876	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.07620641825897E-5	0.0
18	9137875	T	A	18	9137877	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.07620641825897E-5	0.0
18	9137875	T	C	18	9137877	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.99153316237132E-5	0.0
18	9137875	T	G	18	9137877	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.99153316237132E-5	0.0
18	9137876	G	A	18	9137878	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.2358802390823E-5	0.002
18	9137876	G	C	18	9137878	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.2358802390823E-5	0.016
18	9137876	G	T	18	9137878	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.2358802390823E-5	0.002
18	9137877	C	A	18	9137879	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.45277156108894E-5	0.002
18	9137877	C	G	18	9137879	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.45277156108894E-5	0.002
18	9137877	C	T	18	9137879	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.45277156108894E-5	0.002
18	9137878	G	A	18	9137880	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.77346097862455E-4	0.042
18	9137878	G	C	18	9137880	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.4720228130805E-5	0.038
18	9137878	G	T	18	9137880	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.4720228130805E-5	0.04
18	9137879	A	C	18	9137881	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.33234754360132E-4	0.072
18	9137879	A	G	18	9137881	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.33234754360132E-4	0.072
18	9137879	A	T	18	9137881	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.6878611010975E-4	0.07
18	9182368	T	A	18	9182370	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.09174988690968E-4	0.062
18	9182368	T	C	18	9182370	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.90430339228698E-5	0.002
18	9182368	T	G	18	9182370	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.20255077468545E-4	0.038
18	9182369	A	C	18	9182371	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.39768045599259E-5	0.0
18	9182369	A	G	18	9182371	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.50102685067677E-5	0.006
18	9182369	A	T	18	9182371	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.16983833102008E-5	0.032
18	9182370	T	A	18	9182372	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.670898856062233	0.482
18	9182370	T	C	18	9182372	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.101537684666805	0.288
18	9182370	T	G	18	9182372	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999401041108432	0.89
18	9182371	T	A	18	9182373	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00285265901774739	0.15
18	9182371	T	C	18	9182373	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.08416969704065E-4	0.032
18	9182371	T	G	18	9182373	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00279659045260581	0.15
18	9182372	C	A	18	9182374	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00241804350851449	0.066
18	9182372	C	G	18	9182374	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0016901998568064	0.076
18	9182372	C	T	18	9182374	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.59672701944887E-4	0.012
18	9182373	T	A	18	9182375	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.060248083485283	0.406
18	9182373	T	C	18	9182375	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0148859262500679	0.25
18	9182373	T	G	18	9182375	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.060248083485283	0.374
18	9182374	T	A	18	9182376	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.012380692229698	0.182
18	9182374	T	C	18	9182376	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.76909699590615E-4	0.014
18	9182374	T	G	18	9182376	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0179997893125687	0.212
18	9182375	T	A	18	9182377	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.83380105510125	0.624
18	9182375	T	C	18	9182377	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.039184590912064	0.236
18	9182375	T	G	18	9182377	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.635781487514501	0.604
18	9182376	A	C	18	9182378	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.71469452796164E-4	0.0
18	9182376	A	G	18	9182378	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.45438091325586E-5	0.016
18	9182376	A	T	18	9182378	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.233502252932E-4	0.012
18	9182377	C	A	18	9182379	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.937680048318155	0.788
18	9182377	C	G	18	9182379	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999939804827863	0.986
18	9182377	C	T	18	9182379	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.299964006951339	0.38
18	9182378	A	C	18	9182380	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999988247793601	0.926
18	9182378	A	G	18	9182380	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999988247793601	0.926
18	9182378	A	T	18	9182380	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999988247793601	0.914
18	9182379	G	A	18	9182381	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999990361384395	0.936
18	9182379	G	C	18	9182381	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999990361384395	0.938
18	9182379	G	T	18	9182381	y	y	splicing	ANKRD12	.	.	splicing	ENSG00000101745	.	.	0.999990361384395	0.89
18	9182380	A	C	18	9182382	y	y	UTR5	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.356217430436235	0.548
18	9182380	A	G	18	9182382	y	y	UTR5	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.416077807355881	0.554
18	9182380	A	T	18	9182382	y	y	UTR5	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.51993826852783	0.506
18	9182381	T	A	18	9182383	y	y	UTR5	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.00400326971764442	0.07
18	9182381	T	C	18	9182383	y	y	UTR5	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.00289371370057346	0.046
18	9182381	T	G	18	9182383	y	y	UTR5	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.00306746146986222	0.038
18	9182515	A	C	18	9182517	y	n	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon2:c.A85C:p.K29Q;ANKRD12:NM_001083625:exon2:c.A85C:p.K29Q;ANKRD12:NM_001204056:exon2:c.A85C:p.K29Q;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon2:c.A85C:p.K29Q;ENSG00000101745:ENST00000262126:exon2:c.A85C:p.K29Q;ENSG00000101745:ENST00000585234:exon2:c.A85C:p.K29Q;ENSG00000101745:ENST00000546007:exon1:c.A85C:p.K29Q;ENSG00000101745:ENST00000400020:exon2:c.A85C:p.K29Q;ENSG00000101745:ENST00000581635:exon2:c.A85C:p.K29Q;	0.651507998462428	0.496
18	9182515	A	G	18	9182517	y	n	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon2:c.A85G:p.K29E;ANKRD12:NM_001083625:exon2:c.A85G:p.K29E;ANKRD12:NM_001204056:exon2:c.A85G:p.K29E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon2:c.A85G:p.K29E;ENSG00000101745:ENST00000262126:exon2:c.A85G:p.K29E;ENSG00000101745:ENST00000585234:exon2:c.A85G:p.K29E;ENSG00000101745:ENST00000546007:exon1:c.A85G:p.K29E;ENSG00000101745:ENST00000400020:exon2:c.A85G:p.K29E;ENSG00000101745:ENST00000581635:exon2:c.A85G:p.K29E;	0.197290066873522	0.37
18	9182515	A	T	18	9182517	y	n	exonic	ANKRD12	stopgain SNV	ANKRD12:NM_015208:exon2:c.A85T:p.K29X;ANKRD12:NM_001083625:exon2:c.A85T:p.K29X;ANKRD12:NM_001204056:exon2:c.A85T:p.K29X;	exonic	ENSG00000101745	stopgain SNV	ENSG00000101745:ENST00000383440:exon2:c.A85T:p.K29X;ENSG00000101745:ENST00000262126:exon2:c.A85T:p.K29X;ENSG00000101745:ENST00000585234:exon2:c.A85T:p.K29X;ENSG00000101745:ENST00000546007:exon1:c.A85T:p.K29X;ENSG00000101745:ENST00000400020:exon2:c.A85T:p.K29X;ENSG00000101745:ENST00000581635:exon2:c.A85T:p.K29X;	0.997886945874703	0.832
18	9182516	A	C	18	9182518	y	n	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon2:c.A86C:p.K29T;ANKRD12:NM_001083625:exon2:c.A86C:p.K29T;ANKRD12:NM_001204056:exon2:c.A86C:p.K29T;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon2:c.A86C:p.K29T;ENSG00000101745:ENST00000262126:exon2:c.A86C:p.K29T;ENSG00000101745:ENST00000585234:exon2:c.A86C:p.K29T;ENSG00000101745:ENST00000546007:exon1:c.A86C:p.K29T;ENSG00000101745:ENST00000400020:exon2:c.A86C:p.K29T;ENSG00000101745:ENST00000581635:exon2:c.A86C:p.K29T;	0.99987682668856	0.998
18	9182516	A	G	18	9182518	y	n	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon2:c.A86G:p.K29R;ANKRD12:NM_001083625:exon2:c.A86G:p.K29R;ANKRD12:NM_001204056:exon2:c.A86G:p.K29R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon2:c.A86G:p.K29R;ENSG00000101745:ENST00000262126:exon2:c.A86G:p.K29R;ENSG00000101745:ENST00000585234:exon2:c.A86G:p.K29R;ENSG00000101745:ENST00000546007:exon1:c.A86G:p.K29R;ENSG00000101745:ENST00000400020:exon2:c.A86G:p.K29R;ENSG00000101745:ENST00000581635:exon2:c.A86G:p.K29R;	0.999950062478187	1.0
18	9182516	A	T	18	9182518	y	n	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon2:c.A86T:p.K29M;ANKRD12:NM_001083625:exon2:c.A86T:p.K29M;ANKRD12:NM_001204056:exon2:c.A86T:p.K29M;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon2:c.A86T:p.K29M;ENSG00000101745:ENST00000262126:exon2:c.A86T:p.K29M;ENSG00000101745:ENST00000585234:exon2:c.A86T:p.K29M;ENSG00000101745:ENST00000546007:exon1:c.A86T:p.K29M;ENSG00000101745:ENST00000400020:exon2:c.A86T:p.K29M;ENSG00000101745:ENST00000581635:exon2:c.A86T:p.K29M;	0.999934695384275	0.996
18	9182517	G	A	18	9182519	y	n	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon2:c.G87A:p.K29K;ANKRD12:NM_001083625:exon2:c.G87A:p.K29K;ANKRD12:NM_001204056:exon2:c.G87A:p.K29K;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon2:c.G87A:p.K29K;ENSG00000101745:ENST00000262126:exon2:c.G87A:p.K29K;ENSG00000101745:ENST00000585234:exon2:c.G87A:p.K29K;ENSG00000101745:ENST00000546007:exon1:c.G87A:p.K29K;ENSG00000101745:ENST00000400020:exon2:c.G87A:p.K29K;ENSG00000101745:ENST00000581635:exon2:c.G87A:p.K29K;	0.999964114080231	1.0
18	9182517	G	C	18	9182519	y	n	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon2:c.G87C:p.K29N;ANKRD12:NM_001083625:exon2:c.G87C:p.K29N;ANKRD12:NM_001204056:exon2:c.G87C:p.K29N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon2:c.G87C:p.K29N;ENSG00000101745:ENST00000262126:exon2:c.G87C:p.K29N;ENSG00000101745:ENST00000585234:exon2:c.G87C:p.K29N;ENSG00000101745:ENST00000546007:exon1:c.G87C:p.K29N;ENSG00000101745:ENST00000400020:exon2:c.G87C:p.K29N;ENSG00000101745:ENST00000581635:exon2:c.G87C:p.K29N;	0.999997007324834	0.998
18	9182517	G	T	18	9182519	y	n	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon2:c.G87T:p.K29N;ANKRD12:NM_001083625:exon2:c.G87T:p.K29N;ANKRD12:NM_001204056:exon2:c.G87T:p.K29N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon2:c.G87T:p.K29N;ENSG00000101745:ENST00000262126:exon2:c.G87T:p.K29N;ENSG00000101745:ENST00000585234:exon2:c.G87T:p.K29N;ENSG00000101745:ENST00000546007:exon1:c.G87T:p.K29N;ENSG00000101745:ENST00000400020:exon2:c.G87T:p.K29N;ENSG00000101745:ENST00000581635:exon2:c.G87T:p.K29N;	0.999994341619526	1.0
18	9182518	G	A	18	9182520	y	n	splicing	ANKRD12(NM_015208:exon2:c.87+1G>A;NM_001083625:exon2:c.87+1G>A;NM_001204056:exon2:c.87+1G>A)	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.999989072007339	0.926
18	9182518	G	C	18	9182520	y	n	splicing	ANKRD12(NM_015208:exon2:c.87+1G>C;NM_001083625:exon2:c.87+1G>C;NM_001204056:exon2:c.87+1G>C)	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.999989072007339	0.924
18	9182518	G	T	18	9182520	y	n	splicing	ANKRD12(NM_015208:exon2:c.87+1G>T;NM_001083625:exon2:c.87+1G>T;NM_001204056:exon2:c.87+1G>T)	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.999989072007339	0.924
18	9182519	T	A	18	9182521	y	n	splicing	ANKRD12(NM_015208:exon2:c.87+2T>A;NM_001083625:exon2:c.87+2T>A;NM_001204056:exon2:c.87+2T>A)	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.999988247793601	0.918
18	9182519	T	C	18	9182521	y	n	splicing	ANKRD12(NM_015208:exon2:c.87+2T>C;NM_001083625:exon2:c.87+2T>C;NM_001204056:exon2:c.87+2T>C)	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.991245725732999	0.658
18	9182519	T	G	18	9182521	y	n	splicing	ANKRD12(NM_015208:exon2:c.87+2T>G;NM_001083625:exon2:c.87+2T>G;NM_001204056:exon2:c.87+2T>G)	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.999988247793601	0.918
18	9182520	A	C	18	9182522	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.999883530217788	0.976
18	9182520	A	G	18	9182522	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.999705559183022	0.93
18	9182520	A	T	18	9182522	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.999403772373628	0.918
18	9182521	T	A	18	9182523	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	1.23665723894121E-4	0.044
18	9182521	T	C	18	9182523	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	0.00120726389258796	0.086
18	9182521	T	G	18	9182523	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	9.36460065231749E-5	0.02
18	9182522	A	C	18	9182524	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	6.44024915461351E-4	0.136
18	9182522	A	G	18	9182524	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	2.61787188629361E-5	0.008
18	9182522	A	T	18	9182524	y	n	intronic	ANKRD12	.	.	ncRNA_exonic	ENSG00000265257	.	.	3.26465366618593E-4	0.026
18	9182523	T	A	18	9182525	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0551551012744284	0.25
18	9182523	T	C	18	9182525	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0357005586048566	0.246
18	9182523	T	G	18	9182525	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.010860266509887	0.28
18	9182524	G	A	18	9182526	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.26473499995288E-4	0.014
18	9182524	G	C	18	9182526	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.97978205410496E-4	0.008
18	9182524	G	T	18	9182526	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.71595284415884E-4	0.022
18	9182525	A	C	18	9182527	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.17846898225626E-4	0.0
18	9182525	A	G	18	9182527	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.87209926772005E-4	0.13
18	9182525	A	T	18	9182527	y	n	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.1123174569696E-4	0.0
18	9195537	A	C	18	9195539	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.41696206528381E-4	0.268
18	9195537	A	G	18	9195539	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.55388228115475E-4	0.194
18	9195537	A	T	18	9195539	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.40018445105084E-4	0.308
18	9195538	C	A	18	9195540	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.32041991102623E-5	0.096
18	9195538	C	G	18	9195540	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999696204574759	0.906
18	9195538	C	T	18	9195540	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.83753870645727E-5	0.066
18	9195539	T	A	18	9195541	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.99650592224089	0.792
18	9195539	T	C	18	9195541	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.24555210341507E-5	0.09
18	9195539	T	G	18	9195541	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.846376093584446	0.618
18	9195540	T	A	18	9195542	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.99917995202002	0.878
18	9195540	T	C	18	9195542	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0190020057174041	0.144
18	9195540	T	G	18	9195542	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.959408465903274	0.69
18	9195541	T	A	18	9195543	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.48137681715649	0.522
18	9195541	T	C	18	9195543	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.41408862984405E-4	0.006
18	9195541	T	G	18	9195543	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.279262777264919	0.49
18	9195542	T	A	18	9195544	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.105122216371226	0.348
18	9195542	T	C	18	9195544	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.45971914097566E-5	0.004
18	9195542	T	G	18	9195544	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0180295025427186	0.198
18	9195543	T	A	18	9195545	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.470212381673777	0.65
18	9195543	T	C	18	9195545	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.01779348865843E-4	0.006
18	9195543	T	G	18	9195545	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.847776962568677	0.766
18	9195544	A	C	18	9195546	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.96724960314584E-4	0.002
18	9195544	A	G	18	9195546	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00992918868886915	0.06
18	9195544	A	T	18	9195546	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.05997055671848E-4	0.084
18	9195545	A	C	18	9195547	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.68249408695119E-5	0.0
18	9195545	A	G	18	9195547	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999482059136526	0.962
18	9195545	A	T	18	9195547	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.26761167819352E-4	0.006
18	9195546	T	A	18	9195548	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.549978497125465	0.546
18	9195546	T	C	18	9195548	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.32332350299178E-4	0.072
18	9195546	T	G	18	9195548	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999074070204896	0.8
18	9195547	A	C	18	9195549	y	y	splicing	ANKRD12(NM_015208:exon3:c.88-2A>C;NM_001083625:exon3:c.88-2A>C;NM_001204056:exon3:c.88-2A>C)	.	.	splicing	ENSG00000101745(ENST00000585234:exon3:c.88-2A>C;ENST00000383440:exon3:c.88-2A>C;ENST00000262126:exon3:c.88-2A>C;ENST00000581635:exon3:c.88-2A>C;ENST00000400020:exon3:c.88-2A>C;ENST00000546007:exon2:c.88-2A>C)	.	.	0.999988247793601	0.928
18	9195547	A	G	18	9195549	y	y	splicing	ANKRD12(NM_015208:exon3:c.88-2A>G;NM_001083625:exon3:c.88-2A>G;NM_001204056:exon3:c.88-2A>G)	.	.	splicing	ENSG00000101745(ENST00000585234:exon3:c.88-2A>G;ENST00000383440:exon3:c.88-2A>G;ENST00000262126:exon3:c.88-2A>G;ENST00000581635:exon3:c.88-2A>G;ENST00000400020:exon3:c.88-2A>G;ENST00000546007:exon2:c.88-2A>G)	.	.	0.999988247793601	0.928
18	9195547	A	T	18	9195549	y	y	splicing	ANKRD12(NM_015208:exon3:c.88-2A>T;NM_001083625:exon3:c.88-2A>T;NM_001204056:exon3:c.88-2A>T)	.	.	splicing	ENSG00000101745(ENST00000585234:exon3:c.88-2A>T;ENST00000383440:exon3:c.88-2A>T;ENST00000262126:exon3:c.88-2A>T;ENST00000581635:exon3:c.88-2A>T;ENST00000400020:exon3:c.88-2A>T;ENST00000546007:exon2:c.88-2A>T)	.	.	0.999988247793601	0.928
18	9195548	G	A	18	9195550	y	y	splicing	ANKRD12(NM_015208:exon3:c.88-1G>A;NM_001083625:exon3:c.88-1G>A;NM_001204056:exon3:c.88-1G>A)	.	.	splicing	ENSG00000101745(ENST00000585234:exon3:c.88-1G>A;ENST00000383440:exon3:c.88-1G>A;ENST00000262126:exon3:c.88-1G>A;ENST00000581635:exon3:c.88-1G>A;ENST00000400020:exon3:c.88-1G>A;ENST00000546007:exon2:c.88-1G>A)	.	.	0.999989072007339	0.928
18	9195548	G	C	18	9195550	y	y	splicing	ANKRD12(NM_015208:exon3:c.88-1G>C;NM_001083625:exon3:c.88-1G>C;NM_001204056:exon3:c.88-1G>C)	.	.	splicing	ENSG00000101745(ENST00000585234:exon3:c.88-1G>C;ENST00000383440:exon3:c.88-1G>C;ENST00000262126:exon3:c.88-1G>C;ENST00000581635:exon3:c.88-1G>C;ENST00000400020:exon3:c.88-1G>C;ENST00000546007:exon2:c.88-1G>C)	.	.	0.999989072007339	0.928
18	9195548	G	T	18	9195550	y	y	splicing	ANKRD12(NM_015208:exon3:c.88-1G>T;NM_001083625:exon3:c.88-1G>T;NM_001204056:exon3:c.88-1G>T)	.	.	splicing	ENSG00000101745(ENST00000585234:exon3:c.88-1G>T;ENST00000383440:exon3:c.88-1G>T;ENST00000262126:exon3:c.88-1G>T;ENST00000581635:exon3:c.88-1G>T;ENST00000400020:exon3:c.88-1G>T;ENST00000546007:exon2:c.88-1G>T)	.	.	0.999989072007339	0.928
18	9195549	A	C	18	9195551	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.A88C:p.S30R;ANKRD12:NM_001083625:exon3:c.A88C:p.S30R;ANKRD12:NM_001204056:exon3:c.A88C:p.S30R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.A88C:p.S30R;ENSG00000101745:ENST00000262126:exon3:c.A88C:p.S30R;ENSG00000101745:ENST00000585234:exon3:c.A88C:p.S30R;ENSG00000101745:ENST00000546007:exon2:c.A88C:p.S30R;ENSG00000101745:ENST00000400020:exon3:c.A88C:p.S30R;ENSG00000101745:ENST00000581635:exon3:c.A88C:p.S30R;	0.818069342643787	0.448
18	9195549	A	G	18	9195551	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.A88G:p.S30G;ANKRD12:NM_001083625:exon3:c.A88G:p.S30G;ANKRD12:NM_001204056:exon3:c.A88G:p.S30G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.A88G:p.S30G;ENSG00000101745:ENST00000262126:exon3:c.A88G:p.S30G;ENSG00000101745:ENST00000585234:exon3:c.A88G:p.S30G;ENSG00000101745:ENST00000546007:exon2:c.A88G:p.S30G;ENSG00000101745:ENST00000400020:exon3:c.A88G:p.S30G;ENSG00000101745:ENST00000581635:exon3:c.A88G:p.S30G;	0.604849659754743	0.458
18	9195549	A	T	18	9195551	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.A88T:p.S30C;ANKRD12:NM_001083625:exon3:c.A88T:p.S30C;ANKRD12:NM_001204056:exon3:c.A88T:p.S30C;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.A88T:p.S30C;ENSG00000101745:ENST00000262126:exon3:c.A88T:p.S30C;ENSG00000101745:ENST00000585234:exon3:c.A88T:p.S30C;ENSG00000101745:ENST00000546007:exon2:c.A88T:p.S30C;ENSG00000101745:ENST00000400020:exon3:c.A88T:p.S30C;ENSG00000101745:ENST00000581635:exon3:c.A88T:p.S30C;	0.582665459894712	0.364
18	9195550	G	A	18	9195552	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.G89A:p.S30N;ANKRD12:NM_001083625:exon3:c.G89A:p.S30N;ANKRD12:NM_001204056:exon3:c.G89A:p.S30N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.G89A:p.S30N;ENSG00000101745:ENST00000262126:exon3:c.G89A:p.S30N;ENSG00000101745:ENST00000585234:exon3:c.G89A:p.S30N;ENSG00000101745:ENST00000546007:exon2:c.G89A:p.S30N;ENSG00000101745:ENST00000400020:exon3:c.G89A:p.S30N;ENSG00000101745:ENST00000581635:exon3:c.G89A:p.S30N;	0.0344991868080608	0.186
18	9195550	G	C	18	9195552	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.G89C:p.S30T;ANKRD12:NM_001083625:exon3:c.G89C:p.S30T;ANKRD12:NM_001204056:exon3:c.G89C:p.S30T;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.G89C:p.S30T;ENSG00000101745:ENST00000262126:exon3:c.G89C:p.S30T;ENSG00000101745:ENST00000585234:exon3:c.G89C:p.S30T;ENSG00000101745:ENST00000546007:exon2:c.G89C:p.S30T;ENSG00000101745:ENST00000400020:exon3:c.G89C:p.S30T;ENSG00000101745:ENST00000581635:exon3:c.G89C:p.S30T;	0.914977720111953	0.796
18	9195550	G	T	18	9195552	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.G89T:p.S30I;ANKRD12:NM_001083625:exon3:c.G89T:p.S30I;ANKRD12:NM_001204056:exon3:c.G89T:p.S30I;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.G89T:p.S30I;ENSG00000101745:ENST00000262126:exon3:c.G89T:p.S30I;ENSG00000101745:ENST00000585234:exon3:c.G89T:p.S30I;ENSG00000101745:ENST00000546007:exon2:c.G89T:p.S30I;ENSG00000101745:ENST00000400020:exon3:c.G89T:p.S30I;ENSG00000101745:ENST00000581635:exon3:c.G89T:p.S30I;	0.974452626881817	0.728
18	9195694	C	A	18	9195696	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.C233A:p.T78K;ANKRD12:NM_001083625:exon3:c.C233A:p.T78K;ANKRD12:NM_001204056:exon3:c.C233A:p.T78K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.C233A:p.T78K;ENSG00000101745:ENST00000262126:exon3:c.C233A:p.T78K;ENSG00000101745:ENST00000546007:exon2:c.C233A:p.T78K;ENSG00000101745:ENST00000400020:exon3:c.C233A:p.T78K;ENSG00000101745:ENST00000581635:exon3:c.C233A:p.T78K;	0.914914853315743	0.7
18	9195694	C	G	18	9195696	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.C233G:p.T78R;ANKRD12:NM_001083625:exon3:c.C233G:p.T78R;ANKRD12:NM_001204056:exon3:c.C233G:p.T78R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.C233G:p.T78R;ENSG00000101745:ENST00000262126:exon3:c.C233G:p.T78R;ENSG00000101745:ENST00000546007:exon2:c.C233G:p.T78R;ENSG00000101745:ENST00000400020:exon3:c.C233G:p.T78R;ENSG00000101745:ENST00000581635:exon3:c.C233G:p.T78R;	0.964646985520946	0.686
18	9195694	C	T	18	9195696	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.C233T:p.T78I;ANKRD12:NM_001083625:exon3:c.C233T:p.T78I;ANKRD12:NM_001204056:exon3:c.C233T:p.T78I;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.C233T:p.T78I;ENSG00000101745:ENST00000262126:exon3:c.C233T:p.T78I;ENSG00000101745:ENST00000546007:exon2:c.C233T:p.T78I;ENSG00000101745:ENST00000400020:exon3:c.C233T:p.T78I;ENSG00000101745:ENST00000581635:exon3:c.C233T:p.T78I;	0.999852541548265	0.988
18	9195695	A	C	18	9195697	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon3:c.A234C:p.T78T;ANKRD12:NM_001083625:exon3:c.A234C:p.T78T;ANKRD12:NM_001204056:exon3:c.A234C:p.T78T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.A234C:p.T78T;ENSG00000101745:ENST00000262126:exon3:c.A234C:p.T78T;ENSG00000101745:ENST00000546007:exon2:c.A234C:p.T78T;ENSG00000101745:ENST00000400020:exon3:c.A234C:p.T78T;ENSG00000101745:ENST00000581635:exon3:c.A234C:p.T78T;	0.999340236667907	0.99
18	9195695	A	G	18	9195697	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon3:c.A234G:p.T78T;ANKRD12:NM_001083625:exon3:c.A234G:p.T78T;ANKRD12:NM_001204056:exon3:c.A234G:p.T78T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.A234G:p.T78T;ENSG00000101745:ENST00000262126:exon3:c.A234G:p.T78T;ENSG00000101745:ENST00000546007:exon2:c.A234G:p.T78T;ENSG00000101745:ENST00000400020:exon3:c.A234G:p.T78T;ENSG00000101745:ENST00000581635:exon3:c.A234G:p.T78T;	0.999654757259731	0.996
18	9195695	A	T	18	9195697	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon3:c.A234T:p.T78T;ANKRD12:NM_001083625:exon3:c.A234T:p.T78T;ANKRD12:NM_001204056:exon3:c.A234T:p.T78T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.A234T:p.T78T;ENSG00000101745:ENST00000262126:exon3:c.A234T:p.T78T;ENSG00000101745:ENST00000546007:exon2:c.A234T:p.T78T;ENSG00000101745:ENST00000400020:exon3:c.A234T:p.T78T;ENSG00000101745:ENST00000581635:exon3:c.A234T:p.T78T;	0.999812655682907	1.0
18	9195696	G	A	18	9195698	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.G235A:p.D79N;ANKRD12:NM_001083625:exon3:c.G235A:p.E79K;ANKRD12:NM_001204056:exon3:c.G235A:p.E79K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.G235A:p.E79K;ENSG00000101745:ENST00000262126:exon3:c.G235A:p.D79N;ENSG00000101745:ENST00000546007:exon2:c.G235A:p.E79K;ENSG00000101745:ENST00000400020:exon3:c.G235A:p.E79K;ENSG00000101745:ENST00000581635:exon3:c.G235A:p.E79K;	0.999991892547953	0.988
18	9195696	G	C	18	9195698	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon3:c.G235C:p.D79H;ANKRD12:NM_001083625:exon3:c.G235C:p.E79Q;ANKRD12:NM_001204056:exon3:c.G235C:p.E79Q;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon3:c.G235C:p.E79Q;ENSG00000101745:ENST00000262126:exon3:c.G235C:p.D79H;ENSG00000101745:ENST00000546007:exon2:c.G235C:p.E79Q;ENSG00000101745:ENST00000400020:exon3:c.G235C:p.E79Q;ENSG00000101745:ENST00000581635:exon3:c.G235C:p.E79Q;	0.999997627706868	0.978
18	9195696	G	T	18	9195698	y	y	exonic	ANKRD12	stopgain SNV	ANKRD12:NM_001083625:exon3:c.G235T:p.E79X;ANKRD12:NM_001204056:exon3:c.G235T:p.E79X;	exonic	ENSG00000101745	stopgain SNV	ENSG00000101745:ENST00000383440:exon3:c.G235T:p.E79X;ENSG00000101745:ENST00000546007:exon2:c.G235T:p.E79X;ENSG00000101745:ENST00000400020:exon3:c.G235T:p.E79X;ENSG00000101745:ENST00000581635:exon3:c.G235T:p.E79X;	0.999992581621154	0.97
18	9195697	G	A	18	9195699	y	y	splicing	ANKRD12(NM_015208:exon3:c.235+1G>A;NM_001083625:exon3:c.235+1G>A;NM_001204056:exon3:c.235+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon3:c.235+1G>A;ENST00000262126:exon3:c.235+1G>A;ENST00000581635:exon3:c.235+1G>A;ENST00000400020:exon3:c.235+1G>A;ENST00000546007:exon2:c.235+1G>A)	.	.	0.999986675681007	0.926
18	9195697	G	C	18	9195699	y	y	splicing	ANKRD12(NM_015208:exon3:c.235+1G>C;NM_001083625:exon3:c.235+1G>C;NM_001204056:exon3:c.235+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon3:c.235+1G>C;ENST00000262126:exon3:c.235+1G>C;ENST00000581635:exon3:c.235+1G>C;ENST00000400020:exon3:c.235+1G>C;ENST00000546007:exon2:c.235+1G>C)	.	.	0.999986675681007	0.926
18	9195697	G	T	18	9195699	y	y	splicing	ANKRD12(NM_015208:exon3:c.235+1G>T;NM_001083625:exon3:c.235+1G>T;NM_001204056:exon3:c.235+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon3:c.235+1G>T;ENST00000262126:exon3:c.235+1G>T;ENST00000581635:exon3:c.235+1G>T;ENST00000400020:exon3:c.235+1G>T;ENST00000546007:exon2:c.235+1G>T)	.	.	0.999986675681007	0.926
18	9195698	T	A	18	9195700	y	y	splicing	ANKRD12(NM_015208:exon3:c.235+2T>A;NM_001083625:exon3:c.235+2T>A;NM_001204056:exon3:c.235+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon3:c.235+2T>A;ENST00000262126:exon3:c.235+2T>A;ENST00000581635:exon3:c.235+2T>A;ENST00000400020:exon3:c.235+2T>A;ENST00000546007:exon2:c.235+2T>A)	.	.	0.999988247793601	0.928
18	9195698	T	C	18	9195700	y	y	splicing	ANKRD12(NM_015208:exon3:c.235+2T>C;NM_001083625:exon3:c.235+2T>C;NM_001204056:exon3:c.235+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon3:c.235+2T>C;ENST00000262126:exon3:c.235+2T>C;ENST00000581635:exon3:c.235+2T>C;ENST00000400020:exon3:c.235+2T>C;ENST00000546007:exon2:c.235+2T>C)	.	.	0.992066985189247	0.63
18	9195698	T	G	18	9195700	y	y	splicing	ANKRD12(NM_015208:exon3:c.235+2T>G;NM_001083625:exon3:c.235+2T>G;NM_001204056:exon3:c.235+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon3:c.235+2T>G;ENST00000262126:exon3:c.235+2T>G;ENST00000581635:exon3:c.235+2T>G;ENST00000400020:exon3:c.235+2T>G;ENST00000546007:exon2:c.235+2T>G)	.	.	0.999988247793601	0.928
18	9195699	A	C	18	9195701	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999948592773789	0.952
18	9195699	A	G	18	9195701	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.998445602182161	0.916
18	9195699	A	T	18	9195701	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999956049182341	0.962
18	9195700	G	A	18	9195702	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.25582675671115E-4	0.058
18	9195700	G	C	18	9195702	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00156726277527163	0.124
18	9195700	G	T	18	9195702	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.36477084133277E-4	0.024
18	9195701	A	C	18	9195703	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.93519863112605E-4	0.014
18	9195701	A	G	18	9195703	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00181704326285083	0.112
18	9195701	A	T	18	9195703	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00398436972268081	0.052
18	9195702	A	C	18	9195704	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.09700685345325E-4	0.04
18	9195702	A	G	18	9195704	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.13534810853945E-5	0.0
18	9195702	A	T	18	9195704	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.77321861674862E-5	0.018
18	9195703	T	A	18	9195705	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.80035508515248E-5	0.0
18	9195703	T	C	18	9195705	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.94335340726826E-5	0.0
18	9195703	T	G	18	9195705	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.43803260353445E-5	0.0
18	9195704	A	C	18	9195706	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.94124139368752E-4	0.008
18	9195704	A	G	18	9195706	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.01974899470103E-4	0.01
18	9195704	A	T	18	9195706	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.28114872629571E-4	0.058
18	9200500	C	A	18	9200502	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.86431456331734E-5	0.0
18	9200500	C	G	18	9200502	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.86431456331734E-5	0.0
18	9200500	C	T	18	9200502	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.01163773767764E-5	0.0
18	9200501	T	A	18	9200503	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.41069364790736E-5	0.006
18	9200501	T	C	18	9200503	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.41069364790736E-5	0.006
18	9200501	T	G	18	9200503	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.41069364790736E-5	0.008
18	9200502	C	A	18	9200504	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.01127499129458E-5	0.0
18	9200502	C	G	18	9200504	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.01127499129458E-5	0.0
18	9200502	C	T	18	9200504	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.24923113285181E-5	0.0
18	9200503	C	A	18	9200505	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.34280463342776E-4	0.022
18	9200503	C	G	18	9200505	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.34280463342776E-4	0.022
18	9200503	C	T	18	9200505	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.34280463342776E-4	0.026
18	9200504	T	A	18	9200506	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.30852315876377E-5	0.008
18	9200504	T	C	18	9200506	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.30852315876377E-5	0.008
18	9200504	T	G	18	9200506	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.30852315876377E-5	0.008
18	9200505	A	C	18	9200507	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.95241758590049E-5	0.002
18	9200505	A	G	18	9200507	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.95241758590049E-5	0.002
18	9200505	A	T	18	9200507	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.95241758590049E-5	0.002
18	9200506	C	A	18	9200508	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.72153544142037E-5	0.008
18	9200506	C	G	18	9200508	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.72153544142037E-5	0.008
18	9200506	C	T	18	9200508	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.72153544142037E-5	0.006
18	9200507	T	A	18	9200509	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.30852315876377E-5	0.01
18	9200507	T	C	18	9200509	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.30852315876377E-5	0.006
18	9200507	T	G	18	9200509	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.30852315876377E-5	0.006
18	9200508	C	A	18	9200510	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.05746745428764E-5	0.002
18	9200508	C	G	18	9200510	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.05746745428764E-5	0.01
18	9200508	C	T	18	9200510	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.17805017507507E-5	0.0
18	9200509	T	A	18	9200511	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.41215694109E-6	0.0
18	9200509	T	C	18	9200511	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.09337574150394E-6	0.012
18	9200509	T	G	18	9200511	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.09337574150394E-6	0.02
18	9200510	A	C	18	9200512	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.236-2A>C)	.	.	2.74891647094722E-5	0.008
18	9200510	A	G	18	9200512	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.236-2A>G)	.	.	2.74891647094722E-5	0.008
18	9200510	A	T	18	9200512	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.236-2A>T)	.	.	2.05567792764038E-5	0.004
18	9200511	G	A	18	9200513	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.236-1G>A)	.	.	3.07620641825897E-5	0.0
18	9200511	G	C	18	9200513	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.236-1G>C)	.	.	1.99153316237132E-5	0.0
18	9200511	G	T	18	9200513	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.236-1G>T)	.	.	3.07620641825897E-5	0.0
18	9200512	A	C	18	9200514	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000581635:exon4:c.A236C:p.E79A;	5.47959532904733E-5	0.058
18	9200512	A	G	18	9200514	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000581635:exon4:c.A236G:p.E79G;	4.09774573448081E-5	0.004
18	9200512	A	T	18	9200514	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000581635:exon4:c.A236T:p.E79V;	4.09774573448081E-5	0.014
18	9200513	A	C	18	9200515	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000581635:exon4:c.A237C:p.E79D;	7.44782069694124E-5	0.002
18	9200513	A	G	18	9200515	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000581635:exon4:c.A237G:p.E79E;	2.30852315876377E-5	0.022
18	9200513	A	T	18	9200515	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000581635:exon4:c.A237T:p.E79D;	7.44782069694124E-5	0.002
18	9200640	T	A	18	9200642	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	5.08291490468438E-5	0.008
18	9200640	T	C	18	9200642	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	1.1738525533333E-5	0.0
18	9200640	T	G	18	9200642	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	1.1738525533333E-5	0.0
18	9200641	T	A	18	9200643	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	3.67272766448078E-5	0.008
18	9200641	T	C	18	9200643	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	4.91125889811943E-5	0.006
18	9200641	T	G	18	9200643	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	4.91125889811943E-5	0.006
18	9200642	T	A	18	9200644	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	2.45277156108894E-5	0.0
18	9200642	T	C	18	9200644	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	2.45277156108894E-5	0.0
18	9200642	T	G	18	9200644	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	2.45277156108894E-5	0.0
18	9200643	G	A	18	9200645	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.366+1G>A)	.	.	1.46004206284423E-5	0.002
18	9200643	G	C	18	9200645	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.366+1G>C)	.	.	1.46004206284423E-5	0.002
18	9200643	G	T	18	9200645	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.366+1G>T)	.	.	1.46004206284423E-5	0.002
18	9200644	T	A	18	9200646	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.366+2T>A)	.	.	0.00122021165277196	0.004
18	9200644	T	C	18	9200646	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.366+2T>C)	.	.	9.5249215656426E-4	0.004
18	9200644	T	G	18	9200646	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000581635:exon4:c.366+2T>G)	.	.	9.5249215656426E-4	0.004
18	9200645	A	C	18	9200647	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.99153316237132E-5	0.002
18	9200645	A	G	18	9200647	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.99153316237132E-5	0.002
18	9200645	A	T	18	9200647	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.07620641825897E-5	0.002
18	9200646	A	C	18	9200648	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.09774573448081E-5	0.008
18	9200646	A	G	18	9200648	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.09774573448081E-5	0.008
18	9200646	A	T	18	9200648	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.09774573448081E-5	0.008
18	9200647	G	A	18	9200649	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.86431456331734E-5	0.0
18	9200647	G	C	18	9200649	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.86431456331734E-5	0.0
18	9200647	G	T	18	9200649	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.86431456331734E-5	0.0
18	9200648	T	A	18	9200650	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.39765988491657E-5	0.01
18	9200648	T	C	18	9200650	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.01559384236425E-5	0.004
18	9200648	T	G	18	9200650	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.01559384236425E-5	0.006
18	9200649	C	A	18	9200651	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.61707993540616E-5	0.0
18	9200649	C	G	18	9200651	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.61707993540616E-5	0.0
18	9200649	C	T	18	9200651	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.04243866858565E-5	0.0
18	9200650	C	A	18	9200652	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.86431456331734E-5	0.002
18	9200650	C	G	18	9200652	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.86431456331734E-5	0.002
18	9200650	C	T	18	9200652	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.86431456331734E-5	0.002
18	9204462	C	A	18	9204464	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00182743031045861	0.11
18	9204462	C	G	18	9204464	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00178661075970195	0.116
18	9204462	C	T	18	9204464	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00270326323850005	0.21
18	9204463	T	A	18	9204465	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.853049014687404	0.77
18	9204463	T	C	18	9204465	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.608324063555835	0.6
18	9204463	T	G	18	9204465	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.658992704602656	0.75
18	9204464	C	A	18	9204466	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.26451485566423E-4	0.086
18	9204464	C	G	18	9204466	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.96842393125487E-4	0.098
18	9204464	C	T	18	9204466	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.28677134071015E-4	0.28
18	9204465	A	C	18	9204467	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.785971158215795	0.786
18	9204465	A	G	18	9204467	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.840116954762046	0.856
18	9204465	A	T	18	9204467	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.608626224364124	0.716
18	9204466	T	A	18	9204468	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.652523539305665	0.378
18	9204466	T	C	18	9204468	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0442256231261862	0.388
18	9204466	T	G	18	9204468	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999824373559854	0.948
18	9204467	T	A	18	9204469	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.55665668505949	0.43
18	9204467	T	C	18	9204469	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.015108798302573	0.338
18	9204467	T	G	18	9204469	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.364993391230348	0.38
18	9204468	C	A	18	9204470	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.319386032339613	0.446
18	9204468	C	G	18	9204470	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.2026456675024	0.418
18	9204468	C	T	18	9204470	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00256456109690195	0.068
18	9204469	T	A	18	9204471	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999955489598944	0.942
18	9204469	T	C	18	9204471	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0588352239479696	0.156
18	9204469	T	G	18	9204471	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.484279634222377	0.582
18	9204470	G	A	18	9204472	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00419849121972106	0.024
18	9204470	G	C	18	9204472	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.95562130104657E-4	0.01
18	9204470	G	T	18	9204472	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00219301038157668	0.014
18	9204471	T	A	18	9204473	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.917571900112735	0.638
18	9204471	T	C	18	9204473	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0164526520952439	0.164
18	9204471	T	G	18	9204473	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999534874919621	0.904
18	9204472	A	C	18	9204474	y	y	splicing	ANKRD12(NM_015208:exon4:c.236-2A>C)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.236-2A>C)	.	.	0.999988247793601	0.928
18	9204472	A	G	18	9204474	y	y	splicing	ANKRD12(NM_015208:exon4:c.236-2A>G)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.236-2A>G)	.	.	0.999988247793601	0.928
18	9204472	A	T	18	9204474	y	y	splicing	ANKRD12(NM_015208:exon4:c.236-2A>T)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.236-2A>T)	.	.	0.999988247793601	0.928
18	9204473	G	A	18	9204475	y	y	splicing	ANKRD12(NM_015208:exon4:c.236-1G>A)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.236-1G>A)	.	.	0.999985532734767	0.936
18	9204473	G	C	18	9204475	y	y	splicing	ANKRD12(NM_015208:exon4:c.236-1G>C)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.236-1G>C)	.	.	0.999985532734767	0.936
18	9204473	G	T	18	9204475	y	y	splicing	ANKRD12(NM_015208:exon4:c.236-1G>T)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.236-1G>T)	.	.	0.999985532734767	0.936
18	9204474	A	C	18	9204476	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon4:c.A236C:p.D79A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.A236C:p.D79A;	0.242228882267584	0.642
18	9204474	A	G	18	9204476	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon4:c.A236G:p.D79G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.A236G:p.D79G;	0.439414080794193	0.496
18	9204474	A	T	18	9204476	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon4:c.A236T:p.D79V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.A236T:p.D79V;	0.325391775259669	0.56
18	9204475	T	A	18	9204477	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon4:c.T237A:p.D79E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.T237A:p.D79E;	0.231696063597529	0.562
18	9204475	T	C	18	9204477	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon4:c.T237C:p.D79D;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.T237C:p.D79D;	0.259477683496897	0.394
18	9204475	T	G	18	9204477	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon4:c.T237G:p.D79E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.T237G:p.D79E;	0.307962953073449	0.53
18	9204540	C	A	18	9204542	y	y	exonic	ANKRD12	stopgain SNV	ANKRD12:NM_015208:exon4:c.C302A:p.S101X;	exonic	ENSG00000101745	stopgain SNV	ENSG00000101745:ENST00000262126:exon4:c.C302A:p.S101X;	0.96438633945236	0.856
18	9204540	C	G	18	9204542	y	y	exonic	ANKRD12	stopgain SNV	ANKRD12:NM_015208:exon4:c.C302G:p.S101X;	exonic	ENSG00000101745	stopgain SNV	ENSG00000101745:ENST00000262126:exon4:c.C302G:p.S101X;	0.895491723410444	0.688
18	9204540	C	T	18	9204542	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon4:c.C302T:p.S101L;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.C302T:p.S101L;	0.997607414034466	0.892
18	9204541	A	C	18	9204543	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon4:c.A303C:p.S101S;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.A303C:p.S101S;	0.995782421680578	0.956
18	9204541	A	G	18	9204543	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon4:c.A303G:p.S101S;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.A303G:p.S101S;	0.999255377637473	0.99
18	9204541	A	T	18	9204543	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon4:c.A303T:p.S101S;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.A303T:p.S101S;	0.999771919398549	0.99
18	9204542	G	A	18	9204544	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon4:c.G304A:p.E102K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.G304A:p.E102K;	0.999982789940903	1.0
18	9204542	G	C	18	9204544	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon4:c.G304C:p.E102Q;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000262126:exon4:c.G304C:p.E102Q;	0.999996579472455	1.0
18	9204542	G	T	18	9204544	y	y	exonic	ANKRD12	stopgain SNV	ANKRD12:NM_015208:exon4:c.G304T:p.E102X;	exonic	ENSG00000101745	stopgain SNV	ENSG00000101745:ENST00000262126:exon4:c.G304T:p.E102X;	0.999975183529518	0.976
18	9204543	G	A	18	9204545	y	y	splicing	ANKRD12(NM_015208:exon4:c.304+1G>A)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.304+1G>A)	.	.	0.999989263107695	0.936
18	9204543	G	C	18	9204545	y	y	splicing	ANKRD12(NM_015208:exon4:c.304+1G>C)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.304+1G>C)	.	.	0.999989263107695	0.936
18	9204543	G	T	18	9204545	y	y	splicing	ANKRD12(NM_015208:exon4:c.304+1G>T)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.304+1G>T)	.	.	0.999989263107695	0.936
18	9204544	T	A	18	9204546	y	y	splicing	ANKRD12(NM_015208:exon4:c.304+2T>A)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.304+2T>A)	.	.	0.999988247793601	0.928
18	9204544	T	C	18	9204546	y	y	splicing	ANKRD12(NM_015208:exon4:c.304+2T>C)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.304+2T>C)	.	.	0.99340600729494	0.674
18	9204544	T	G	18	9204546	y	y	splicing	ANKRD12(NM_015208:exon4:c.304+2T>G)	.	.	splicing	ENSG00000101745(ENST00000262126:exon4:c.304+2T>G)	.	.	0.999988247793601	0.928
18	9204545	A	C	18	9204547	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999273994507927	0.914
18	9204545	A	G	18	9204547	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.916674748923559	0.808
18	9204545	A	T	18	9204547	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999394902656059	0.872
18	9204546	A	C	18	9204548	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.997295636775677	0.89
18	9204546	A	G	18	9204548	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.996220500131481	0.9
18	9204546	A	T	18	9204548	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.998411661771473	0.878
18	9204547	T	A	18	9204549	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.23612524519647E-4	0.006
18	9204547	T	C	18	9204549	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.09399520462079E-4	0.0
18	9204547	T	G	18	9204549	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.40067180024849E-4	0.024
18	9204548	T	A	18	9204550	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.101167499340655	0.38
18	9204548	T	C	18	9204550	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.341442478457739	0.57
18	9204548	T	G	18	9204550	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.118680419251234	0.348
18	9204549	A	C	18	9204551	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.95350677510464E-4	0.006
18	9204549	A	G	18	9204551	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00234458528177793	0.01
18	9204549	A	T	18	9204551	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00123230108632523	0.16
18	9204550	G	A	18	9204552	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0340781449138881	0.086
18	9204550	G	C	18	9204552	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0148516909814377	0.052
18	9204550	G	T	18	9204552	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0148516909814377	0.066
18	9208643	T	A	18	9208645	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.822350580195904	0.648
18	9208643	T	C	18	9208645	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00124081428932124	0.16
18	9208643	T	G	18	9208645	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.155622959457438	0.54
18	9208644	A	C	18	9208646	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0695634311922918	0.372
18	9208644	A	G	18	9208646	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0517309395033276	0.362
18	9208644	A	T	18	9208646	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.19820177038702	0.388
18	9208645	A	C	18	9208647	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0378398942936794	0.374
18	9208645	A	G	18	9208647	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999821539469557	0.918
18	9208645	A	T	18	9208647	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.203946422935405	0.4
18	9208646	T	A	18	9208648	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.972351505971192	0.69
18	9208646	T	C	18	9208648	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00764888363061933	0.122
18	9208646	T	G	18	9208648	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999986038887576	0.962
18	9208647	A	C	18	9208649	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.47356644328539E-4	0.024
18	9208647	A	G	18	9208649	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.35903015637401E-4	0.034
18	9208647	A	T	18	9208649	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.17423800563097E-4	0.01
18	9208648	A	C	18	9208650	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.45980863275682E-4	0.008
18	9208648	A	G	18	9208650	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999458360333112	0.96
18	9208648	A	T	18	9208650	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00237279345880953	0.022
18	9208649	T	A	18	9208651	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.996695491509442	0.906
18	9208649	T	C	18	9208651	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0253482164747592	0.138
18	9208649	T	G	18	9208651	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999915635347822	0.968
18	9208650	T	A	18	9208652	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999006641889643	0.934
18	9208650	T	C	18	9208652	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.360102870331282	0.398
18	9208650	T	G	18	9208652	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.997516966346811	0.914
18	9208651	C	A	18	9208653	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.72645791946005E-4	0.05
18	9208651	C	G	18	9208653	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.180216145754E-4	0.17
18	9208651	C	T	18	9208653	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.43570994761239E-4	0.076
18	9208652	C	A	18	9208654	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999794037151517	0.886
18	9208652	C	G	18	9208654	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.99992086018273	0.906
18	9208652	C	T	18	9208654	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00575290815390389	0.274
18	9208653	A	C	18	9208655	y	y	splicing	ANKRD12(NM_015208:exon5:c.305-2A>C;NM_001083625:exon4:c.236-2A>C;NM_001204056:exon4:c.236-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.236-2A>C;ENST00000262126:exon5:c.305-2A>C;ENST00000581635:exon5:c.367-2A>C;ENST00000400020:exon4:c.236-2A>C;ENST00000546007:exon3:c.236-2A>C)	.	.	0.999991478261395	0.938
18	9208653	A	G	18	9208655	y	y	splicing	ANKRD12(NM_015208:exon5:c.305-2A>G;NM_001083625:exon4:c.236-2A>G;NM_001204056:exon4:c.236-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.236-2A>G;ENST00000262126:exon5:c.305-2A>G;ENST00000581635:exon5:c.367-2A>G;ENST00000400020:exon4:c.236-2A>G;ENST00000546007:exon3:c.236-2A>G)	.	.	0.999991478261395	0.938
18	9208653	A	T	18	9208655	y	y	splicing	ANKRD12(NM_015208:exon5:c.305-2A>T;NM_001083625:exon4:c.236-2A>T;NM_001204056:exon4:c.236-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.236-2A>T;ENST00000262126:exon5:c.305-2A>T;ENST00000581635:exon5:c.367-2A>T;ENST00000400020:exon4:c.236-2A>T;ENST00000546007:exon3:c.236-2A>T)	.	.	0.999991478261395	0.938
18	9208654	G	A	18	9208656	y	y	splicing	ANKRD12(NM_015208:exon5:c.305-1G>A;NM_001083625:exon4:c.236-1G>A;NM_001204056:exon4:c.236-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.236-1G>A;ENST00000262126:exon5:c.305-1G>A;ENST00000581635:exon5:c.367-1G>A;ENST00000400020:exon4:c.236-1G>A;ENST00000546007:exon3:c.236-1G>A)	.	.	0.999989125585301	0.932
18	9208654	G	C	18	9208656	y	y	splicing	ANKRD12(NM_015208:exon5:c.305-1G>C;NM_001083625:exon4:c.236-1G>C;NM_001204056:exon4:c.236-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.236-1G>C;ENST00000262126:exon5:c.305-1G>C;ENST00000581635:exon5:c.367-1G>C;ENST00000400020:exon4:c.236-1G>C;ENST00000546007:exon3:c.236-1G>C)	.	.	0.999989125585301	0.932
18	9208654	G	T	18	9208656	y	y	splicing	ANKRD12(NM_015208:exon5:c.305-1G>T;NM_001083625:exon4:c.236-1G>T;NM_001204056:exon4:c.236-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.236-1G>T;ENST00000262126:exon5:c.305-1G>T;ENST00000581635:exon5:c.367-1G>T;ENST00000400020:exon4:c.236-1G>T;ENST00000546007:exon3:c.236-1G>T)	.	.	0.999989125585301	0.932
18	9208655	A	C	18	9208657	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.A305C:p.E102A;ANKRD12:NM_001083625:exon4:c.A236C:p.E79A;ANKRD12:NM_001204056:exon4:c.A236C:p.E79A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.A236C:p.E79A;ENSG00000101745:ENST00000262126:exon5:c.A305C:p.E102A;ENSG00000101745:ENST00000546007:exon3:c.A236C:p.E79A;ENSG00000101745:ENST00000400020:exon4:c.A236C:p.E79A;	0.929486917628866	0.494
18	9208655	A	G	18	9208657	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.A305G:p.E102G;ANKRD12:NM_001083625:exon4:c.A236G:p.E79G;ANKRD12:NM_001204056:exon4:c.A236G:p.E79G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.A236G:p.E79G;ENSG00000101745:ENST00000262126:exon5:c.A305G:p.E102G;ENSG00000101745:ENST00000546007:exon3:c.A236G:p.E79G;ENSG00000101745:ENST00000400020:exon4:c.A236G:p.E79G;	0.309352392166363	0.392
18	9208655	A	T	18	9208657	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.A305T:p.E102V;ANKRD12:NM_001083625:exon4:c.A236T:p.E79V;ANKRD12:NM_001204056:exon4:c.A236T:p.E79V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.A236T:p.E79V;ENSG00000101745:ENST00000262126:exon5:c.A305T:p.E102V;ENSG00000101745:ENST00000546007:exon3:c.A236T:p.E79V;ENSG00000101745:ENST00000400020:exon4:c.A236T:p.E79V;	0.867226521267708	0.48
18	9208656	G	A	18	9208658	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon5:c.G306A:p.E102E;ANKRD12:NM_001083625:exon4:c.G237A:p.E79E;ANKRD12:NM_001204056:exon4:c.G237A:p.E79E;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.G237A:p.E79E;ENSG00000101745:ENST00000262126:exon5:c.G306A:p.E102E;ENSG00000101745:ENST00000546007:exon3:c.G237A:p.E79E;ENSG00000101745:ENST00000400020:exon4:c.G237A:p.E79E;	2.99779323793868E-4	0.052
18	9208656	G	C	18	9208658	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.G306C:p.E102D;ANKRD12:NM_001083625:exon4:c.G237C:p.E79D;ANKRD12:NM_001204056:exon4:c.G237C:p.E79D;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.G237C:p.E79D;ENSG00000101745:ENST00000262126:exon5:c.G306C:p.E102D;ENSG00000101745:ENST00000546007:exon3:c.G237C:p.E79D;ENSG00000101745:ENST00000400020:exon4:c.G237C:p.E79D;	1.99177647709647E-4	0.004
18	9208656	G	T	18	9208658	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.G306T:p.E102D;ANKRD12:NM_001083625:exon4:c.G237T:p.E79D;ANKRD12:NM_001204056:exon4:c.G237T:p.E79D;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.G237T:p.E79D;ENSG00000101745:ENST00000262126:exon5:c.G306T:p.E102D;ENSG00000101745:ENST00000546007:exon3:c.G237T:p.E79D;ENSG00000101745:ENST00000400020:exon4:c.G237T:p.E79D;	0.0010363345608813	0.042
18	9208799	C	A	18	9208801	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.C449A:p.P150Q;ANKRD12:NM_001083625:exon4:c.C380A:p.P127Q;ANKRD12:NM_001204056:exon4:c.C380A:p.P127Q;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.C380A:p.P127Q;ENSG00000101745:ENST00000262126:exon5:c.C449A:p.P150Q;ENSG00000101745:ENST00000400020:exon4:c.C380A:p.P127Q;	0.952949702791404	0.684
18	9208799	C	G	18	9208801	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.C449G:p.P150R;ANKRD12:NM_001083625:exon4:c.C380G:p.P127R;ANKRD12:NM_001204056:exon4:c.C380G:p.P127R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.C380G:p.P127R;ENSG00000101745:ENST00000262126:exon5:c.C449G:p.P150R;ENSG00000101745:ENST00000400020:exon4:c.C380G:p.P127R;	0.976502205971027	0.656
18	9208799	C	T	18	9208801	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.C449T:p.P150L;ANKRD12:NM_001083625:exon4:c.C380T:p.P127L;ANKRD12:NM_001204056:exon4:c.C380T:p.P127L;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.C380T:p.P127L;ENSG00000101745:ENST00000262126:exon5:c.C449T:p.P150L;ENSG00000101745:ENST00000400020:exon4:c.C380T:p.P127L;	0.999868695422278	0.968
18	9208800	A	C	18	9208802	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon5:c.A450C:p.P150P;ANKRD12:NM_001083625:exon4:c.A381C:p.P127P;ANKRD12:NM_001204056:exon4:c.A381C:p.P127P;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.A381C:p.P127P;ENSG00000101745:ENST00000262126:exon5:c.A450C:p.P150P;ENSG00000101745:ENST00000400020:exon4:c.A381C:p.P127P;	0.999961718002484	0.982
18	9208800	A	G	18	9208802	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon5:c.A450G:p.P150P;ANKRD12:NM_001083625:exon4:c.A381G:p.P127P;ANKRD12:NM_001204056:exon4:c.A381G:p.P127P;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.A381G:p.P127P;ENSG00000101745:ENST00000262126:exon5:c.A450G:p.P150P;ENSG00000101745:ENST00000400020:exon4:c.A381G:p.P127P;	0.999960176982259	0.986
18	9208800	A	T	18	9208802	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon5:c.A450T:p.P150P;ANKRD12:NM_001083625:exon4:c.A381T:p.P127P;ANKRD12:NM_001204056:exon4:c.A381T:p.P127P;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.A381T:p.P127P;ENSG00000101745:ENST00000262126:exon5:c.A450T:p.P150P;ENSG00000101745:ENST00000400020:exon4:c.A381T:p.P127P;	0.999975796515144	0.992
18	9208801	G	A	18	9208803	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.G451A:p.D151N;ANKRD12:NM_001083625:exon4:c.G382A:p.D128N;ANKRD12:NM_001204056:exon4:c.G382A:p.D128N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.G382A:p.D128N;ENSG00000101745:ENST00000262126:exon5:c.G451A:p.D151N;ENSG00000101745:ENST00000400020:exon4:c.G382A:p.D128N;	0.999996381671838	1.0
18	9208801	G	C	18	9208803	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.G451C:p.D151H;ANKRD12:NM_001083625:exon4:c.G382C:p.D128H;ANKRD12:NM_001204056:exon4:c.G382C:p.D128H;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.G382C:p.D128H;ENSG00000101745:ENST00000262126:exon5:c.G451C:p.D151H;ENSG00000101745:ENST00000400020:exon4:c.G382C:p.D128H;	0.999998122414291	1.0
18	9208801	G	T	18	9208803	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon5:c.G451T:p.D151Y;ANKRD12:NM_001083625:exon4:c.G382T:p.D128Y;ANKRD12:NM_001204056:exon4:c.G382T:p.D128Y;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon4:c.G382T:p.D128Y;ENSG00000101745:ENST00000262126:exon5:c.G451T:p.D151Y;ENSG00000101745:ENST00000400020:exon4:c.G382T:p.D128Y;	0.999993780042005	1.0
18	9208802	G	A	18	9208804	y	y	splicing	ANKRD12(NM_015208:exon5:c.451+1G>A;NM_001083625:exon4:c.382+1G>A;NM_001204056:exon4:c.382+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.382+1G>A;ENST00000262126:exon5:c.451+1G>A;ENST00000400020:exon4:c.382+1G>A)	.	.	0.999992425382947	0.93
18	9208802	G	C	18	9208804	y	y	splicing	ANKRD12(NM_015208:exon5:c.451+1G>C;NM_001083625:exon4:c.382+1G>C;NM_001204056:exon4:c.382+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.382+1G>C;ENST00000262126:exon5:c.451+1G>C;ENST00000400020:exon4:c.382+1G>C)	.	.	0.999992425382947	0.93
18	9208802	G	T	18	9208804	y	y	splicing	ANKRD12(NM_015208:exon5:c.451+1G>T;NM_001083625:exon4:c.382+1G>T;NM_001204056:exon4:c.382+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.382+1G>T;ENST00000262126:exon5:c.451+1G>T;ENST00000400020:exon4:c.382+1G>T)	.	.	0.999992425382947	0.93
18	9208803	T	A	18	9208805	y	y	splicing	ANKRD12(NM_015208:exon5:c.451+2T>A;NM_001083625:exon4:c.382+2T>A;NM_001204056:exon4:c.382+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.382+2T>A;ENST00000262126:exon5:c.451+2T>A;ENST00000400020:exon4:c.382+2T>A)	.	.	0.999994064153128	0.938
18	9208803	T	C	18	9208805	y	y	splicing	ANKRD12(NM_015208:exon5:c.451+2T>C;NM_001083625:exon4:c.382+2T>C;NM_001204056:exon4:c.382+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.382+2T>C;ENST00000262126:exon5:c.451+2T>C;ENST00000400020:exon4:c.382+2T>C)	.	.	0.999962043025359	0.862
18	9208803	T	G	18	9208805	y	y	splicing	ANKRD12(NM_015208:exon5:c.451+2T>G;NM_001083625:exon4:c.382+2T>G;NM_001204056:exon4:c.382+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon4:c.382+2T>G;ENST00000262126:exon5:c.451+2T>G;ENST00000400020:exon4:c.382+2T>G)	.	.	0.999994064153128	0.938
18	9208804	G	A	18	9208806	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.01081768808039E-4	0.076
18	9208804	G	C	18	9208806	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.964794918363791	0.72
18	9208804	G	T	18	9208806	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.988445927222959	0.796
18	9208805	A	C	18	9208807	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999172563962694	0.866
18	9208805	A	G	18	9208807	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999779515214301	0.972
18	9208805	A	T	18	9208807	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999937950453602	0.944
18	9208806	T	A	18	9208808	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.13070471893155E-4	0.04
18	9208806	T	C	18	9208808	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.43398741907468E-4	0.054
18	9208806	T	G	18	9208808	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.71319423608376E-4	0.084
18	9208807	A	C	18	9208809	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00998682495997571	0.064
18	9208807	A	G	18	9208809	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.006896914646633	0.082
18	9208807	A	T	18	9208809	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00955239229818505	0.08
18	9208808	C	A	18	9208810	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.57455870470223E-4	0.004
18	9208808	C	G	18	9208810	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00117474238919524	0.042
18	9208808	C	T	18	9208810	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00951586014017361	0.096
18	9208809	C	A	18	9208811	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0353128562234939	0.1
18	9208809	C	G	18	9208811	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0311941653201543	0.094
18	9208809	C	T	18	9208811	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0448794621906136	0.13
18	9211570	T	A	18	9211572	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00950062431149267	0.22
18	9211570	T	C	18	9211572	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00221656210028271	0.11
18	9211570	T	G	18	9211572	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00590101784986167	0.202
18	9211571	C	A	18	9211573	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.32734143739091E-4	0.066
18	9211571	C	G	18	9211573	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.91787739432693E-4	0.014
18	9211571	C	T	18	9211573	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.42605699819738E-5	0.028
18	9211572	T	A	18	9211574	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.802947560287804	0.628
18	9211572	T	C	18	9211574	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.410546753106879	0.43
18	9211572	T	G	18	9211574	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.48339046492065	0.54
18	9211573	T	A	18	9211575	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00460885458604071	0.14
18	9211573	T	C	18	9211575	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00115266177553909	0.034
18	9211573	T	G	18	9211575	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00566929841182283	0.132
18	9211574	T	A	18	9211576	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00209652691175458	0.078
18	9211574	T	C	18	9211576	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.79968779829518E-4	0.012
18	9211574	T	G	18	9211576	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00228907438432678	0.152
18	9211575	C	A	18	9211577	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.2736515181685E-4	0.144
18	9211575	C	G	18	9211577	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.2355269482734E-4	0.028
18	9211575	C	T	18	9211577	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.43132435911721E-5	0.0
18	9211576	T	A	18	9211578	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0376465239937782	0.104
18	9211576	T	C	18	9211578	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.45824184152347E-4	0.02
18	9211576	T	G	18	9211578	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0262618110532412	0.11
18	9211577	T	A	18	9211579	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0417620547261997	0.344
18	9211577	T	C	18	9211579	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00214608147577287	0.028
18	9211577	T	G	18	9211579	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0380462739608066	0.304
18	9211578	A	C	18	9211580	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.72266656643397E-5	0.002
18	9211578	A	G	18	9211580	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.43753416793664E-5	0.002
18	9211578	A	T	18	9211580	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.76491979336984E-5	0.006
18	9211579	C	A	18	9211581	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.533770232035469	0.286
18	9211579	C	G	18	9211581	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.997006770387543	0.686
18	9211579	C	T	18	9211581	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00203606141776517	0.042
18	9211580	A	C	18	9211582	y	y	splicing	ANKRD12(NM_015208:exon6:c.452-2A>C;NM_001083625:exon5:c.383-2A>C;NM_001204056:exon5:c.383-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.383-2A>C;ENST00000262126:exon6:c.452-2A>C;ENST00000400020:exon5:c.383-2A>C;ENST00000546007:exon4:c.377-2A>C)	.	.	0.999988247793601	0.932
18	9211580	A	G	18	9211582	y	y	splicing	ANKRD12(NM_015208:exon6:c.452-2A>G;NM_001083625:exon5:c.383-2A>G;NM_001204056:exon5:c.383-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.383-2A>G;ENST00000262126:exon6:c.452-2A>G;ENST00000400020:exon5:c.383-2A>G;ENST00000546007:exon4:c.377-2A>G)	.	.	0.999988247793601	0.932
18	9211580	A	T	18	9211582	y	y	splicing	ANKRD12(NM_015208:exon6:c.452-2A>T;NM_001083625:exon5:c.383-2A>T;NM_001204056:exon5:c.383-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.383-2A>T;ENST00000262126:exon6:c.452-2A>T;ENST00000400020:exon5:c.383-2A>T;ENST00000546007:exon4:c.377-2A>T)	.	.	0.999988247793601	0.932
18	9211581	G	A	18	9211583	y	y	splicing	ANKRD12(NM_015208:exon6:c.452-1G>A;NM_001083625:exon5:c.383-1G>A;NM_001204056:exon5:c.383-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.383-1G>A;ENST00000262126:exon6:c.452-1G>A;ENST00000400020:exon5:c.383-1G>A;ENST00000546007:exon4:c.377-1G>A)	.	.	0.999990361384395	0.938
18	9211581	G	C	18	9211583	y	y	splicing	ANKRD12(NM_015208:exon6:c.452-1G>C;NM_001083625:exon5:c.383-1G>C;NM_001204056:exon5:c.383-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.383-1G>C;ENST00000262126:exon6:c.452-1G>C;ENST00000400020:exon5:c.383-1G>C;ENST00000546007:exon4:c.377-1G>C)	.	.	0.999990361384395	0.938
18	9211581	G	T	18	9211583	y	y	splicing	ANKRD12(NM_015208:exon6:c.452-1G>T;NM_001083625:exon5:c.383-1G>T;NM_001204056:exon5:c.383-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.383-1G>T;ENST00000262126:exon6:c.452-1G>T;ENST00000400020:exon5:c.383-1G>T;ENST00000546007:exon4:c.377-1G>T)	.	.	0.999990361384395	0.938
18	9211582	A	C	18	9211584	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.A452C:p.D151A;ANKRD12:NM_001083625:exon5:c.A383C:p.D128A;ANKRD12:NM_001204056:exon5:c.A383C:p.D128A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.A383C:p.D128A;ENSG00000101745:ENST00000262126:exon6:c.A452C:p.D151A;ENSG00000101745:ENST00000546007:exon4:c.A377C:p.N126T;ENSG00000101745:ENST00000400020:exon5:c.A383C:p.D128A;	0.264962516563954	0.43
18	9211582	A	G	18	9211584	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.A452G:p.D151G;ANKRD12:NM_001083625:exon5:c.A383G:p.D128G;ANKRD12:NM_001204056:exon5:c.A383G:p.D128G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.A383G:p.D128G;ENSG00000101745:ENST00000262126:exon6:c.A452G:p.D151G;ENSG00000101745:ENST00000546007:exon4:c.A377G:p.N126S;ENSG00000101745:ENST00000400020:exon5:c.A383G:p.D128G;	0.0893218928695432	0.414
18	9211582	A	T	18	9211584	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.A452T:p.D151V;ANKRD12:NM_001083625:exon5:c.A383T:p.D128V;ANKRD12:NM_001204056:exon5:c.A383T:p.D128V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.A383T:p.D128V;ENSG00000101745:ENST00000262126:exon6:c.A452T:p.D151V;ENSG00000101745:ENST00000546007:exon4:c.A377T:p.N126I;ENSG00000101745:ENST00000400020:exon5:c.A383T:p.D128V;	0.547556571646871	0.524
18	9211583	T	A	18	9211585	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.T453A:p.D151E;ANKRD12:NM_001083625:exon5:c.T384A:p.D128E;ANKRD12:NM_001204056:exon5:c.T384A:p.D128E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.T384A:p.D128E;ENSG00000101745:ENST00000262126:exon6:c.T453A:p.D151E;ENSG00000101745:ENST00000546007:exon4:c.T378A:p.N126K;ENSG00000101745:ENST00000400020:exon5:c.T384A:p.D128E;	4.94909398603016E-4	0.02
18	9211583	T	C	18	9211585	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon6:c.T453C:p.D151D;ANKRD12:NM_001083625:exon5:c.T384C:p.D128D;ANKRD12:NM_001204056:exon5:c.T384C:p.D128D;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.T384C:p.D128D;ENSG00000101745:ENST00000262126:exon6:c.T453C:p.D151D;ENSG00000101745:ENST00000546007:exon4:c.T378C:p.N126N;ENSG00000101745:ENST00000400020:exon5:c.T384C:p.D128D;	5.73211566587794E-4	0.03
18	9211583	T	G	18	9211585	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.T453G:p.D151E;ANKRD12:NM_001083625:exon5:c.T384G:p.D128E;ANKRD12:NM_001204056:exon5:c.T384G:p.D128E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.T384G:p.D128E;ENSG00000101745:ENST00000262126:exon6:c.T453G:p.D151E;ENSG00000101745:ENST00000546007:exon4:c.T378G:p.N126K;ENSG00000101745:ENST00000400020:exon5:c.T384G:p.D128E;	6.41668218645488E-4	0.022
18	9211780	C	A	18	9211782	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.C650A:p.A217E;ANKRD12:NM_001083625:exon5:c.C581A:p.A194E;ANKRD12:NM_001204056:exon5:c.C581A:p.A194E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.C581A:p.A194E;ENSG00000101745:ENST00000262126:exon6:c.C650A:p.A217E;ENSG00000101745:ENST00000546007:exon4:c.C575A:p.A192E;ENSG00000101745:ENST00000400020:exon5:c.C581A:p.A194E;	0.947607731426138	0.814
18	9211780	C	G	18	9211782	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.C650G:p.A217G;ANKRD12:NM_001083625:exon5:c.C581G:p.A194G;ANKRD12:NM_001204056:exon5:c.C581G:p.A194G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.C581G:p.A194G;ENSG00000101745:ENST00000262126:exon6:c.C650G:p.A217G;ENSG00000101745:ENST00000546007:exon4:c.C575G:p.A192G;ENSG00000101745:ENST00000400020:exon5:c.C581G:p.A194G;	0.92194519140318	0.61
18	9211780	C	T	18	9211782	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.C650T:p.A217V;ANKRD12:NM_001083625:exon5:c.C581T:p.A194V;ANKRD12:NM_001204056:exon5:c.C581T:p.A194V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.C581T:p.A194V;ENSG00000101745:ENST00000262126:exon6:c.C650T:p.A217V;ENSG00000101745:ENST00000546007:exon4:c.C575T:p.A192V;ENSG00000101745:ENST00000400020:exon5:c.C581T:p.A194V;	0.998479332610278	0.814
18	9211781	A	C	18	9211783	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon6:c.A651C:p.A217A;ANKRD12:NM_001083625:exon5:c.A582C:p.A194A;ANKRD12:NM_001204056:exon5:c.A582C:p.A194A;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.A582C:p.A194A;ENSG00000101745:ENST00000262126:exon6:c.A651C:p.A217A;ENSG00000101745:ENST00000546007:exon4:c.A576C:p.A192A;ENSG00000101745:ENST00000400020:exon5:c.A582C:p.A194A;	0.553690832574949	0.568
18	9211781	A	G	18	9211783	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon6:c.A651G:p.A217A;ANKRD12:NM_001083625:exon5:c.A582G:p.A194A;ANKRD12:NM_001204056:exon5:c.A582G:p.A194A;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.A582G:p.A194A;ENSG00000101745:ENST00000262126:exon6:c.A651G:p.A217A;ENSG00000101745:ENST00000546007:exon4:c.A576G:p.A192A;ENSG00000101745:ENST00000400020:exon5:c.A582G:p.A194A;	0.311854282313719	0.53
18	9211781	A	T	18	9211783	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon6:c.A651T:p.A217A;ANKRD12:NM_001083625:exon5:c.A582T:p.A194A;ANKRD12:NM_001204056:exon5:c.A582T:p.A194A;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.A582T:p.A194A;ENSG00000101745:ENST00000262126:exon6:c.A651T:p.A217A;ENSG00000101745:ENST00000546007:exon4:c.A576T:p.A192A;ENSG00000101745:ENST00000400020:exon5:c.A582T:p.A194A;	0.336293527576092	0.468
18	9211782	G	A	18	9211784	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.G652A:p.G218S;ANKRD12:NM_001083625:exon5:c.G583A:p.G195S;ANKRD12:NM_001204056:exon5:c.G583A:p.G195S;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.G583A:p.G195S;ENSG00000101745:ENST00000262126:exon6:c.G652A:p.G218S;ENSG00000101745:ENST00000546007:exon4:c.G577A:p.G193S;ENSG00000101745:ENST00000400020:exon5:c.G583A:p.G195S;	0.999961854817701	0.982
18	9211782	G	C	18	9211784	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.G652C:p.G218R;ANKRD12:NM_001083625:exon5:c.G583C:p.G195R;ANKRD12:NM_001204056:exon5:c.G583C:p.G195R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.G583C:p.G195R;ENSG00000101745:ENST00000262126:exon6:c.G652C:p.G218R;ENSG00000101745:ENST00000546007:exon4:c.G577C:p.G193R;ENSG00000101745:ENST00000400020:exon5:c.G583C:p.G195R;	0.99994610798493	0.944
18	9211782	G	T	18	9211784	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon6:c.G652T:p.G218C;ANKRD12:NM_001083625:exon5:c.G583T:p.G195C;ANKRD12:NM_001204056:exon5:c.G583T:p.G195C;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon5:c.G583T:p.G195C;ENSG00000101745:ENST00000262126:exon6:c.G652T:p.G218C;ENSG00000101745:ENST00000546007:exon4:c.G577T:p.G193C;ENSG00000101745:ENST00000400020:exon5:c.G583T:p.G195C;	0.999971216535698	0.978
18	9211783	G	A	18	9211785	y	y	splicing	ANKRD12(NM_015208:exon6:c.652+1G>A;NM_001083625:exon5:c.583+1G>A;NM_001204056:exon5:c.583+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.583+1G>A;ENST00000262126:exon6:c.652+1G>A;ENST00000400020:exon5:c.583+1G>A;ENST00000546007:exon4:c.577+1G>A)	.	.	0.999990361384395	0.938
18	9211783	G	C	18	9211785	y	y	splicing	ANKRD12(NM_015208:exon6:c.652+1G>C;NM_001083625:exon5:c.583+1G>C;NM_001204056:exon5:c.583+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.583+1G>C;ENST00000262126:exon6:c.652+1G>C;ENST00000400020:exon5:c.583+1G>C;ENST00000546007:exon4:c.577+1G>C)	.	.	0.999990361384395	0.938
18	9211783	G	T	18	9211785	y	y	splicing	ANKRD12(NM_015208:exon6:c.652+1G>T;NM_001083625:exon5:c.583+1G>T;NM_001204056:exon5:c.583+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.583+1G>T;ENST00000262126:exon6:c.652+1G>T;ENST00000400020:exon5:c.583+1G>T;ENST00000546007:exon4:c.577+1G>T)	.	.	0.999990361384395	0.938
18	9211784	T	A	18	9211786	y	y	splicing	ANKRD12(NM_015208:exon6:c.652+2T>A;NM_001083625:exon5:c.583+2T>A;NM_001204056:exon5:c.583+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.583+2T>A;ENST00000262126:exon6:c.652+2T>A;ENST00000400020:exon5:c.583+2T>A;ENST00000546007:exon4:c.577+2T>A)	.	.	0.999988247793601	0.93
18	9211784	T	C	18	9211786	y	y	splicing	ANKRD12(NM_015208:exon6:c.652+2T>C;NM_001083625:exon5:c.583+2T>C;NM_001204056:exon5:c.583+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.583+2T>C;ENST00000262126:exon6:c.652+2T>C;ENST00000400020:exon5:c.583+2T>C;ENST00000546007:exon4:c.577+2T>C)	.	.	0.99340600729494	0.686
18	9211784	T	G	18	9211786	y	y	splicing	ANKRD12(NM_015208:exon6:c.652+2T>G;NM_001083625:exon5:c.583+2T>G;NM_001204056:exon5:c.583+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon5:c.583+2T>G;ENST00000262126:exon6:c.652+2T>G;ENST00000400020:exon5:c.583+2T>G;ENST00000546007:exon4:c.577+2T>G)	.	.	0.999988247793601	0.93
18	9211785	A	C	18	9211787	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.968573898442859	0.79
18	9211785	A	G	18	9211787	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0183700156618715	0.292
18	9211785	A	T	18	9211787	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.995287367055183	0.836
18	9211786	A	C	18	9211788	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.181881039553413	0.248
18	9211786	A	G	18	9211788	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.167374183962347	0.244
18	9211786	A	T	18	9211788	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.188347917315607	0.222
18	9211787	G	A	18	9211789	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.908056605126277	0.69
18	9211787	G	C	18	9211789	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.473032570930969	0.562
18	9211787	G	T	18	9211789	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.66686875997851	0.61
18	9211788	A	C	18	9211790	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.2455143818983E-4	0.016
18	9211788	A	G	18	9211790	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.60474708510473E-5	0.002
18	9211788	A	T	18	9211790	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.42747846147599E-5	0.012
18	9211789	C	A	18	9211791	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.6291964291088E-5	0.004
18	9211789	C	G	18	9211791	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.91144736835574E-5	0.006
18	9211789	C	T	18	9211791	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.11557798857191E-5	0.002
18	9211790	T	A	18	9211792	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.12022953705287E-5	0.0
18	9211790	T	C	18	9211792	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.12022953705287E-5	0.006
18	9211790	T	G	18	9211792	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.00988253368186E-5	0.012
18	9216744	A	C	18	9216746	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.63698706018178E-6	0.13
18	9216744	A	G	18	9216746	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.943920943534503	0.898
18	9216744	A	T	18	9216746	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.57545326927221E-5	0.192
18	9216745	T	A	18	9216747	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.996994519467419	0.896
18	9216745	T	C	18	9216747	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.730482855848379	0.504
18	9216745	T	G	18	9216747	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999978105299932	0.984
18	9216746	C	A	18	9216748	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00267270643867787	0.254
18	9216746	C	G	18	9216748	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00510301535643264	0.318
18	9216746	C	T	18	9216748	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.84895974225249E-4	0.256
18	9216747	T	A	18	9216749	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999393549190093	0.912
18	9216747	T	C	18	9216749	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.724335577552942	0.372
18	9216747	T	G	18	9216749	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999609202403532	0.888
18	9216748	A	C	18	9216750	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.30554070039614E-5	0.002
18	9216748	A	G	18	9216750	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.77369895844807E-5	0.012
18	9216748	A	T	18	9216750	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.53418245183419E-5	0.006
18	9216749	A	C	18	9216751	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.03156140149285E-4	0.018
18	9216749	A	G	18	9216751	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999609847924707	0.974
18	9216749	A	T	18	9216751	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.18696207781623E-4	0.04
18	9216750	C	A	18	9216752	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00398203376703747	0.34
18	9216750	C	G	18	9216752	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999785054069277	0.962
18	9216750	C	T	18	9216752	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.27078385634578E-5	0.034
18	9216751	T	A	18	9216753	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.955114242456553	0.638
18	9216751	T	C	18	9216753	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00280877332642536	0.158
18	9216751	T	G	18	9216753	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.954080959883382	0.612
18	9216752	T	A	18	9216754	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00147591805069991	0.052
18	9216752	T	C	18	9216754	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.98462437823331E-4	0.046
18	9216752	T	G	18	9216754	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.95732646283463E-4	0.054
18	9216753	T	A	18	9216755	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.156605053312311	0.448
18	9216753	T	C	18	9216755	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.63701237591736E-4	0.138
18	9216753	T	G	18	9216755	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.98871988775722	0.718
18	9216754	A	C	18	9216756	y	y	splicing	ANKRD12(NM_015208:exon7:c.653-2A>C;NM_001083625:exon6:c.584-2A>C;NM_001204056:exon6:c.584-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.584-2A>C;ENST00000262126:exon7:c.653-2A>C;ENST00000400020:exon6:c.584-2A>C;ENST00000546007:exon5:c.578-2A>C)	.	.	0.999986741007567	0.938
18	9216754	A	G	18	9216756	y	y	splicing	ANKRD12(NM_015208:exon7:c.653-2A>G;NM_001083625:exon6:c.584-2A>G;NM_001204056:exon6:c.584-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.584-2A>G;ENST00000262126:exon7:c.653-2A>G;ENST00000400020:exon6:c.584-2A>G;ENST00000546007:exon5:c.578-2A>G)	.	.	0.999986741007567	0.938
18	9216754	A	T	18	9216756	y	y	splicing	ANKRD12(NM_015208:exon7:c.653-2A>T;NM_001083625:exon6:c.584-2A>T;NM_001204056:exon6:c.584-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.584-2A>T;ENST00000262126:exon7:c.653-2A>T;ENST00000400020:exon6:c.584-2A>T;ENST00000546007:exon5:c.578-2A>T)	.	.	0.999986741007567	0.938
18	9216755	G	A	18	9216757	y	y	splicing	ANKRD12(NM_015208:exon7:c.653-1G>A;NM_001083625:exon6:c.584-1G>A;NM_001204056:exon6:c.584-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.584-1G>A;ENST00000262126:exon7:c.653-1G>A;ENST00000400020:exon6:c.584-1G>A;ENST00000546007:exon5:c.578-1G>A)	.	.	0.999984967332678	0.94
18	9216755	G	C	18	9216757	y	y	splicing	ANKRD12(NM_015208:exon7:c.653-1G>C;NM_001083625:exon6:c.584-1G>C;NM_001204056:exon6:c.584-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.584-1G>C;ENST00000262126:exon7:c.653-1G>C;ENST00000400020:exon6:c.584-1G>C;ENST00000546007:exon5:c.578-1G>C)	.	.	0.999984967332678	0.94
18	9216755	G	T	18	9216757	y	y	splicing	ANKRD12(NM_015208:exon7:c.653-1G>T;NM_001083625:exon6:c.584-1G>T;NM_001204056:exon6:c.584-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.584-1G>T;ENST00000262126:exon7:c.653-1G>T;ENST00000400020:exon6:c.584-1G>T;ENST00000546007:exon5:c.578-1G>T)	.	.	0.999984967332678	0.94
18	9216756	G	A	18	9216758	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.G653A:p.G218D;ANKRD12:NM_001083625:exon6:c.G584A:p.G195D;ANKRD12:NM_001204056:exon6:c.G584A:p.G195D;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.G584A:p.G195D;ENSG00000101745:ENST00000262126:exon7:c.G653A:p.G218D;ENSG00000101745:ENST00000546007:exon5:c.G578A:p.G193D;ENSG00000101745:ENST00000400020:exon6:c.G584A:p.G195D;	0.999769032815535	0.936
18	9216756	G	C	18	9216758	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.G653C:p.G218A;ANKRD12:NM_001083625:exon6:c.G584C:p.G195A;ANKRD12:NM_001204056:exon6:c.G584C:p.G195A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.G584C:p.G195A;ENSG00000101745:ENST00000262126:exon7:c.G653C:p.G218A;ENSG00000101745:ENST00000546007:exon5:c.G578C:p.G193A;ENSG00000101745:ENST00000400020:exon6:c.G584C:p.G195A;	0.999439525140403	0.956
18	9216756	G	T	18	9216758	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.G653T:p.G218V;ANKRD12:NM_001083625:exon6:c.G584T:p.G195V;ANKRD12:NM_001204056:exon6:c.G584T:p.G195V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.G584T:p.G195V;ENSG00000101745:ENST00000262126:exon7:c.G653T:p.G218V;ENSG00000101745:ENST00000546007:exon5:c.G578T:p.G193V;ENSG00000101745:ENST00000400020:exon6:c.G584T:p.G195V;	0.999723623692378	0.99
18	9216757	T	A	18	9216759	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon7:c.T654A:p.G218G;ANKRD12:NM_001083625:exon6:c.T585A:p.G195G;ANKRD12:NM_001204056:exon6:c.T585A:p.G195G;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.T585A:p.G195G;ENSG00000101745:ENST00000262126:exon7:c.T654A:p.G218G;ENSG00000101745:ENST00000546007:exon5:c.T579A:p.G193G;ENSG00000101745:ENST00000400020:exon6:c.T585A:p.G195G;	0.0105493624249193	0.17
18	9216757	T	C	18	9216759	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon7:c.T654C:p.G218G;ANKRD12:NM_001083625:exon6:c.T585C:p.G195G;ANKRD12:NM_001204056:exon6:c.T585C:p.G195G;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.T585C:p.G195G;ENSG00000101745:ENST00000262126:exon7:c.T654C:p.G218G;ENSG00000101745:ENST00000546007:exon5:c.T579C:p.G193G;ENSG00000101745:ENST00000400020:exon6:c.T585C:p.G195G;	0.00788810826230297	0.258
18	9216757	T	G	18	9216759	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon7:c.T654G:p.G218G;ANKRD12:NM_001083625:exon6:c.T585G:p.G195G;ANKRD12:NM_001204056:exon6:c.T585G:p.G195G;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.T585G:p.G195G;ENSG00000101745:ENST00000262126:exon7:c.T654G:p.G218G;ENSG00000101745:ENST00000546007:exon5:c.T579G:p.G193G;ENSG00000101745:ENST00000400020:exon6:c.T585G:p.G195G;	0.00433264597848575	0.178
18	9216896	G	A	18	9216898	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.G793A:p.D265N;ANKRD12:NM_001083625:exon6:c.G724A:p.D242N;ANKRD12:NM_001204056:exon6:c.G724A:p.D242N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.G724A:p.D242N;ENSG00000101745:ENST00000262126:exon7:c.G793A:p.D265N;ENSG00000101745:ENST00000546007:exon5:c.G718A:p.D240N;ENSG00000101745:ENST00000400020:exon6:c.G724A:p.D242N;	0.634623243974042	0.59
18	9216896	G	C	18	9216898	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.G793C:p.D265H;ANKRD12:NM_001083625:exon6:c.G724C:p.D242H;ANKRD12:NM_001204056:exon6:c.G724C:p.D242H;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.G724C:p.D242H;ENSG00000101745:ENST00000262126:exon7:c.G793C:p.D265H;ENSG00000101745:ENST00000546007:exon5:c.G718C:p.D240H;ENSG00000101745:ENST00000400020:exon6:c.G724C:p.D242H;	0.0114422151982084	0.074
18	9216896	G	T	18	9216898	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.G793T:p.D265Y;ANKRD12:NM_001083625:exon6:c.G724T:p.D242Y;ANKRD12:NM_001204056:exon6:c.G724T:p.D242Y;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.G724T:p.D242Y;ENSG00000101745:ENST00000262126:exon7:c.G793T:p.D265Y;ENSG00000101745:ENST00000546007:exon5:c.G718T:p.D240Y;ENSG00000101745:ENST00000400020:exon6:c.G724T:p.D242Y;	0.131557064821581	0.318
18	9216897	A	C	18	9216899	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.A794C:p.D265A;ANKRD12:NM_001083625:exon6:c.A725C:p.D242A;ANKRD12:NM_001204056:exon6:c.A725C:p.D242A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.A725C:p.D242A;ENSG00000101745:ENST00000262126:exon7:c.A794C:p.D265A;ENSG00000101745:ENST00000546007:exon5:c.A719C:p.D240A;ENSG00000101745:ENST00000400020:exon6:c.A725C:p.D242A;	0.93001980863068	0.794
18	9216897	A	G	18	9216899	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.A794G:p.D265G;ANKRD12:NM_001083625:exon6:c.A725G:p.D242G;ANKRD12:NM_001204056:exon6:c.A725G:p.D242G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.A725G:p.D242G;ENSG00000101745:ENST00000262126:exon7:c.A794G:p.D265G;ENSG00000101745:ENST00000546007:exon5:c.A719G:p.D240G;ENSG00000101745:ENST00000400020:exon6:c.A725G:p.D242G;	0.914060766185177	0.65
18	9216897	A	T	18	9216899	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.A794T:p.D265V;ANKRD12:NM_001083625:exon6:c.A725T:p.D242V;ANKRD12:NM_001204056:exon6:c.A725T:p.D242V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.A725T:p.D242V;ENSG00000101745:ENST00000262126:exon7:c.A794T:p.D265V;ENSG00000101745:ENST00000546007:exon5:c.A719T:p.D240V;ENSG00000101745:ENST00000400020:exon6:c.A725T:p.D242V;	0.934020635227142	0.742
18	9216898	T	A	18	9216900	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.T795A:p.D265E;ANKRD12:NM_001083625:exon6:c.T726A:p.D242E;ANKRD12:NM_001204056:exon6:c.T726A:p.D242E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.T726A:p.D242E;ENSG00000101745:ENST00000262126:exon7:c.T795A:p.D265E;ENSG00000101745:ENST00000546007:exon5:c.T720A:p.D240E;ENSG00000101745:ENST00000400020:exon6:c.T726A:p.D242E;	1.39926864983785E-4	0.002
18	9216898	T	C	18	9216900	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon7:c.T795C:p.D265D;ANKRD12:NM_001083625:exon6:c.T726C:p.D242D;ANKRD12:NM_001204056:exon6:c.T726C:p.D242D;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.T726C:p.D242D;ENSG00000101745:ENST00000262126:exon7:c.T795C:p.D265D;ENSG00000101745:ENST00000546007:exon5:c.T720C:p.D240D;ENSG00000101745:ENST00000400020:exon6:c.T726C:p.D242D;	0.00169532893907282	0.058
18	9216898	T	G	18	9216900	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon7:c.T795G:p.D265E;ANKRD12:NM_001083625:exon6:c.T726G:p.D242E;ANKRD12:NM_001204056:exon6:c.T726G:p.D242E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon6:c.T726G:p.D242E;ENSG00000101745:ENST00000262126:exon7:c.T795G:p.D265E;ENSG00000101745:ENST00000546007:exon5:c.T720G:p.D240E;ENSG00000101745:ENST00000400020:exon6:c.T726G:p.D242E;	3.47045124806635E-4	0.048
18	9216899	G	A	18	9216901	y	y	splicing	ANKRD12(NM_015208:exon7:c.795+1G>A;NM_001083625:exon6:c.726+1G>A;NM_001204056:exon6:c.726+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.726+1G>A;ENST00000262126:exon7:c.795+1G>A;ENST00000400020:exon6:c.726+1G>A;ENST00000546007:exon5:c.720+1G>A;ENST00000359158:exon1:c.121+1G>A)	.	.	0.999986675681007	0.934
18	9216899	G	C	18	9216901	y	y	splicing	ANKRD12(NM_015208:exon7:c.795+1G>C;NM_001083625:exon6:c.726+1G>C;NM_001204056:exon6:c.726+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.726+1G>C;ENST00000262126:exon7:c.795+1G>C;ENST00000400020:exon6:c.726+1G>C;ENST00000546007:exon5:c.720+1G>C;ENST00000359158:exon1:c.121+1G>C)	.	.	0.999986675681007	0.934
18	9216899	G	T	18	9216901	y	y	splicing	ANKRD12(NM_015208:exon7:c.795+1G>T;NM_001083625:exon6:c.726+1G>T;NM_001204056:exon6:c.726+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.726+1G>T;ENST00000262126:exon7:c.795+1G>T;ENST00000400020:exon6:c.726+1G>T;ENST00000546007:exon5:c.720+1G>T;ENST00000359158:exon1:c.121+1G>T)	.	.	0.999986675681007	0.934
18	9216900	T	A	18	9216902	y	y	splicing	ANKRD12(NM_015208:exon7:c.795+2T>A;NM_001083625:exon6:c.726+2T>A;NM_001204056:exon6:c.726+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.726+2T>A;ENST00000262126:exon7:c.795+2T>A;ENST00000400020:exon6:c.726+2T>A;ENST00000546007:exon5:c.720+2T>A;ENST00000359158:exon1:c.121+2T>A)	.	.	0.999988247793601	0.93
18	9216900	T	C	18	9216902	y	y	splicing	ANKRD12(NM_015208:exon7:c.795+2T>C;NM_001083625:exon6:c.726+2T>C;NM_001204056:exon6:c.726+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.726+2T>C;ENST00000262126:exon7:c.795+2T>C;ENST00000400020:exon6:c.726+2T>C;ENST00000546007:exon5:c.720+2T>C;ENST00000359158:exon1:c.121+2T>C)	.	.	0.991305317320824	0.648
18	9216900	T	G	18	9216902	y	y	splicing	ANKRD12(NM_015208:exon7:c.795+2T>G;NM_001083625:exon6:c.726+2T>G;NM_001204056:exon6:c.726+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon6:c.726+2T>G;ENST00000262126:exon7:c.795+2T>G;ENST00000400020:exon6:c.726+2T>G;ENST00000546007:exon5:c.720+2T>G;ENST00000359158:exon1:c.121+2T>G)	.	.	0.999988247793601	0.93
18	9216901	A	C	18	9216903	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.99966492267926	0.902
18	9216901	A	G	18	9216903	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00613316292278636	0.172
18	9216901	A	T	18	9216903	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999735615470725	0.828
18	9216902	A	C	18	9216904	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.997354379355358	0.914
18	9216902	A	G	18	9216904	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.997383834799834	0.976
18	9216902	A	T	18	9216904	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.997160097490684	0.86
18	9216903	G	A	18	9216905	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999909237731655	0.89
18	9216903	G	C	18	9216905	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.998988372764947	0.952
18	9216903	G	T	18	9216905	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999961520639365	0.964
18	9216904	T	A	18	9216906	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.962106740712601	0.758
18	9216904	T	C	18	9216906	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.747251182919803	0.73
18	9216904	T	G	18	9216906	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.847114078333823	0.674
18	9216905	A	C	18	9216907	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00324496955961305	0.0
18	9216905	A	G	18	9216907	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00122913998718321	0.0
18	9216905	A	T	18	9216907	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.80809917585252E-4	0.0
18	9216906	T	A	18	9216908	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0210932215928343	0.108
18	9216906	T	C	18	9216908	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0177547923831989	0.072
18	9216906	T	G	18	9216908	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0177547923831989	0.068
18	9221838	T	A	18	9221840	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.135184710393966	0.438
18	9221838	T	C	18	9221840	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.40817335673746E-4	0.008
18	9221838	T	G	18	9221840	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0857855863683783	0.378
18	9221839	T	A	18	9221841	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.528738415934744	0.422
18	9221839	T	C	18	9221841	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.23282719088109E-5	0.038
18	9221839	T	G	18	9221841	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.301493008594461	0.412
18	9221840	A	C	18	9221842	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.17449139170167E-5	0.004
18	9221840	A	G	18	9221842	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.11112946186969E-5	0.004
18	9221840	A	T	18	9221842	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.1331108655557E-5	0.032
18	9221841	T	A	18	9221843	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.122991739490315	0.306
18	9221841	T	C	18	9221843	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.12860233555103E-4	0.008
18	9221841	T	G	18	9221843	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.996159079469647	0.95
18	9221842	T	A	18	9221844	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999858383135334	0.98
18	9221842	T	C	18	9221844	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.31147535509201E-4	0.0
18	9221842	T	G	18	9221844	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013005937411411	0.1
18	9221843	G	A	18	9221845	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.26227700296368E-5	0.008
18	9221843	G	C	18	9221845	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.90468595940245E-5	0.0
18	9221843	G	T	18	9221845	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.90396441272181E-5	0.0
18	9221844	T	A	18	9221846	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.317319587011331	0.462
18	9221844	T	C	18	9221846	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.9089137051824E-4	0.056
18	9221844	T	G	18	9221846	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.415258209047029	0.492
18	9221845	T	A	18	9221847	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999799868945839	0.926
18	9221845	T	C	18	9221847	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.025358512192452	0.122
18	9221845	T	G	18	9221847	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.430168534613611	0.502
18	9221846	G	A	18	9221848	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.70808698363748E-5	0.0
18	9221846	G	C	18	9221848	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.4215838453275E-5	0.002
18	9221846	G	T	18	9221848	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.77547636659262E-5	0.0
18	9221847	C	A	18	9221849	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999708908794511	0.762
18	9221847	C	G	18	9221849	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999572168821666	0.924
18	9221847	C	T	18	9221849	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0858388333063963	0.258
18	9221848	A	C	18	9221850	y	y	splicing	ANKRD12(NM_015208:exon8:c.796-2A>C;NM_001083625:exon7:c.727-2A>C;NM_001204056:exon7:c.727-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.727-2A>C;ENST00000262126:exon8:c.796-2A>C;ENST00000400020:exon7:c.727-2A>C;ENST00000546007:exon6:c.721-2A>C;ENST00000359158:exon2:c.122-2A>C)	.	.	0.999978952611685	0.928
18	9221848	A	G	18	9221850	y	y	splicing	ANKRD12(NM_015208:exon8:c.796-2A>G;NM_001083625:exon7:c.727-2A>G;NM_001204056:exon7:c.727-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.727-2A>G;ENST00000262126:exon8:c.796-2A>G;ENST00000400020:exon7:c.727-2A>G;ENST00000546007:exon6:c.721-2A>G;ENST00000359158:exon2:c.122-2A>G)	.	.	0.999978952611685	0.928
18	9221848	A	T	18	9221850	y	y	splicing	ANKRD12(NM_015208:exon8:c.796-2A>T;NM_001083625:exon7:c.727-2A>T;NM_001204056:exon7:c.727-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.727-2A>T;ENST00000262126:exon8:c.796-2A>T;ENST00000400020:exon7:c.727-2A>T;ENST00000546007:exon6:c.721-2A>T;ENST00000359158:exon2:c.122-2A>T)	.	.	0.999988247793601	0.926
18	9221849	G	A	18	9221851	y	y	splicing	ANKRD12(NM_015208:exon8:c.796-1G>A;NM_001083625:exon7:c.727-1G>A;NM_001204056:exon7:c.727-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.727-1G>A;ENST00000262126:exon8:c.796-1G>A;ENST00000400020:exon7:c.727-1G>A;ENST00000546007:exon6:c.721-1G>A;ENST00000359158:exon2:c.122-1G>A)	.	.	0.999989072007339	0.934
18	9221849	G	C	18	9221851	y	y	splicing	ANKRD12(NM_015208:exon8:c.796-1G>C;NM_001083625:exon7:c.727-1G>C;NM_001204056:exon7:c.727-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.727-1G>C;ENST00000262126:exon8:c.796-1G>C;ENST00000400020:exon7:c.727-1G>C;ENST00000546007:exon6:c.721-1G>C;ENST00000359158:exon2:c.122-1G>C)	.	.	0.999989072007339	0.934
18	9221849	G	T	18	9221851	y	y	splicing	ANKRD12(NM_015208:exon8:c.796-1G>T;NM_001083625:exon7:c.727-1G>T;NM_001204056:exon7:c.727-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.727-1G>T;ENST00000262126:exon8:c.796-1G>T;ENST00000400020:exon7:c.727-1G>T;ENST00000546007:exon6:c.721-1G>T;ENST00000359158:exon2:c.122-1G>T)	.	.	0.999989072007339	0.934
18	9221850	A	C	18	9221852	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.A796C:p.I266L;ANKRD12:NM_001083625:exon7:c.A727C:p.I243L;ANKRD12:NM_001204056:exon7:c.A727C:p.I243L;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.A727C:p.I243L;ENSG00000101745:ENST00000262126:exon8:c.A796C:p.I266L;ENSG00000101745:ENST00000546007:exon6:c.A721C:p.I241L;ENSG00000101745:ENST00000400020:exon7:c.A727C:p.I243L;	0.0228212795702697	0.204
18	9221850	A	G	18	9221852	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.A796G:p.I266V;ANKRD12:NM_001083625:exon7:c.A727G:p.I243V;ANKRD12:NM_001204056:exon7:c.A727G:p.I243V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.A727G:p.I243V;ENSG00000101745:ENST00000262126:exon8:c.A796G:p.I266V;ENSG00000101745:ENST00000546007:exon6:c.A721G:p.I241V;ENSG00000101745:ENST00000400020:exon7:c.A727G:p.I243V;	0.0013002842409719	0.012
18	9221850	A	T	18	9221852	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.A796T:p.I266L;ANKRD12:NM_001083625:exon7:c.A727T:p.I243L;ANKRD12:NM_001204056:exon7:c.A727T:p.I243L;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.A727T:p.I243L;ENSG00000101745:ENST00000262126:exon8:c.A796T:p.I266L;ENSG00000101745:ENST00000546007:exon6:c.A721T:p.I241L;ENSG00000101745:ENST00000400020:exon7:c.A727T:p.I243L;	0.0181523540094652	0.246
18	9221851	T	A	18	9221853	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.T797A:p.I266K;ANKRD12:NM_001083625:exon7:c.T728A:p.I243K;ANKRD12:NM_001204056:exon7:c.T728A:p.I243K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.T728A:p.I243K;ENSG00000101745:ENST00000262126:exon8:c.T797A:p.I266K;ENSG00000101745:ENST00000546007:exon6:c.T722A:p.I241K;ENSG00000101745:ENST00000400020:exon7:c.T728A:p.I243K;	0.0151562090677066	0.092
18	9221851	T	C	18	9221853	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.T797C:p.I266T;ANKRD12:NM_001083625:exon7:c.T728C:p.I243T;ANKRD12:NM_001204056:exon7:c.T728C:p.I243T;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.T728C:p.I243T;ENSG00000101745:ENST00000262126:exon8:c.T797C:p.I266T;ENSG00000101745:ENST00000546007:exon6:c.T722C:p.I241T;ENSG00000101745:ENST00000400020:exon7:c.T728C:p.I243T;	0.00806218222814876	0.152
18	9221851	T	G	18	9221853	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.T797G:p.I266R;ANKRD12:NM_001083625:exon7:c.T728G:p.I243R;ANKRD12:NM_001204056:exon7:c.T728G:p.I243R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.T728G:p.I243R;ENSG00000101745:ENST00000262126:exon8:c.T797G:p.I266R;ENSG00000101745:ENST00000546007:exon6:c.T722G:p.I241R;ENSG00000101745:ENST00000400020:exon7:c.T728G:p.I243R;	0.0295415919124466	0.18
18	9221995	C	A	18	9221997	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.C941A:p.T314K;ANKRD12:NM_001083625:exon7:c.C872A:p.T291K;ANKRD12:NM_001204056:exon7:c.C872A:p.T291K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.C872A:p.T291K;ENSG00000101745:ENST00000262126:exon8:c.C941A:p.T314K;ENSG00000101745:ENST00000546007:exon6:c.C866A:p.T289K;ENSG00000101745:ENST00000400020:exon7:c.C872A:p.T291K;	0.925556200879812	0.676
18	9221995	C	G	18	9221997	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.C941G:p.T314R;ANKRD12:NM_001083625:exon7:c.C872G:p.T291R;ANKRD12:NM_001204056:exon7:c.C872G:p.T291R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.C872G:p.T291R;ENSG00000101745:ENST00000262126:exon8:c.C941G:p.T314R;ENSG00000101745:ENST00000546007:exon6:c.C866G:p.T289R;ENSG00000101745:ENST00000400020:exon7:c.C872G:p.T291R;	0.945712965962144	0.608
18	9221995	C	T	18	9221997	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.C941T:p.T314I;ANKRD12:NM_001083625:exon7:c.C872T:p.T291I;ANKRD12:NM_001204056:exon7:c.C872T:p.T291I;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.C872T:p.T291I;ENSG00000101745:ENST00000262126:exon8:c.C941T:p.T314I;ENSG00000101745:ENST00000546007:exon6:c.C866T:p.T289I;ENSG00000101745:ENST00000400020:exon7:c.C872T:p.T291I;	0.999522427626338	0.978
18	9221996	A	C	18	9221998	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon8:c.A942C:p.T314T;ANKRD12:NM_001083625:exon7:c.A873C:p.T291T;ANKRD12:NM_001204056:exon7:c.A873C:p.T291T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.A873C:p.T291T;ENSG00000101745:ENST00000262126:exon8:c.A942C:p.T314T;ENSG00000101745:ENST00000546007:exon6:c.A867C:p.T289T;ENSG00000101745:ENST00000400020:exon7:c.A873C:p.T291T;	0.999016955880757	0.984
18	9221996	A	G	18	9221998	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon8:c.A942G:p.T314T;ANKRD12:NM_001083625:exon7:c.A873G:p.T291T;ANKRD12:NM_001204056:exon7:c.A873G:p.T291T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.A873G:p.T291T;ENSG00000101745:ENST00000262126:exon8:c.A942G:p.T314T;ENSG00000101745:ENST00000546007:exon6:c.A867G:p.T289T;ENSG00000101745:ENST00000400020:exon7:c.A873G:p.T291T;	0.998186542726851	0.946
18	9221996	A	T	18	9221998	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon8:c.A942T:p.T314T;ANKRD12:NM_001083625:exon7:c.A873T:p.T291T;ANKRD12:NM_001204056:exon7:c.A873T:p.T291T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.A873T:p.T291T;ENSG00000101745:ENST00000262126:exon8:c.A942T:p.T314T;ENSG00000101745:ENST00000546007:exon6:c.A867T:p.T289T;ENSG00000101745:ENST00000400020:exon7:c.A873T:p.T291T;	0.999418737021459	0.988
18	9221997	G	A	18	9221999	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.G943A:p.D315N;ANKRD12:NM_001083625:exon7:c.G874A:p.D292N;ANKRD12:NM_001204056:exon7:c.G874A:p.D292N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.G874A:p.D292N;ENSG00000101745:ENST00000262126:exon8:c.G943A:p.D315N;ENSG00000101745:ENST00000546007:exon6:c.G868A:p.D290N;ENSG00000101745:ENST00000400020:exon7:c.G874A:p.D292N;	0.999992326879558	1.0
18	9221997	G	C	18	9221999	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.G943C:p.D315H;ANKRD12:NM_001083625:exon7:c.G874C:p.D292H;ANKRD12:NM_001204056:exon7:c.G874C:p.D292H;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.G874C:p.D292H;ENSG00000101745:ENST00000262126:exon8:c.G943C:p.D315H;ENSG00000101745:ENST00000546007:exon6:c.G868C:p.D290H;ENSG00000101745:ENST00000400020:exon7:c.G874C:p.D292H;	0.999994568403048	1.0
18	9221997	G	T	18	9221999	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon8:c.G943T:p.D315Y;ANKRD12:NM_001083625:exon7:c.G874T:p.D292Y;ANKRD12:NM_001204056:exon7:c.G874T:p.D292Y;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon7:c.G874T:p.D292Y;ENSG00000101745:ENST00000262126:exon8:c.G943T:p.D315Y;ENSG00000101745:ENST00000546007:exon6:c.G868T:p.D290Y;ENSG00000101745:ENST00000400020:exon7:c.G874T:p.D292Y;	0.999990846406755	1.0
18	9221998	G	A	18	9222000	y	y	splicing	ANKRD12(NM_015208:exon8:c.943+1G>A;NM_001083625:exon7:c.874+1G>A;NM_001204056:exon7:c.874+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.874+1G>A;ENST00000262126:exon8:c.943+1G>A;ENST00000400020:exon7:c.874+1G>A;ENST00000546007:exon6:c.868+1G>A;ENST00000359158:exon2:c.269+1G>A)	.	.	0.999986675681007	0.918
18	9221998	G	C	18	9222000	y	y	splicing	ANKRD12(NM_015208:exon8:c.943+1G>C;NM_001083625:exon7:c.874+1G>C;NM_001204056:exon7:c.874+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.874+1G>C;ENST00000262126:exon8:c.943+1G>C;ENST00000400020:exon7:c.874+1G>C;ENST00000546007:exon6:c.868+1G>C;ENST00000359158:exon2:c.269+1G>C)	.	.	0.999986675681007	0.918
18	9221998	G	T	18	9222000	y	y	splicing	ANKRD12(NM_015208:exon8:c.943+1G>T;NM_001083625:exon7:c.874+1G>T;NM_001204056:exon7:c.874+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.874+1G>T;ENST00000262126:exon8:c.943+1G>T;ENST00000400020:exon7:c.874+1G>T;ENST00000546007:exon6:c.868+1G>T;ENST00000359158:exon2:c.269+1G>T)	.	.	0.999986675681007	0.918
18	9221999	T	A	18	9222001	y	y	splicing	ANKRD12(NM_015208:exon8:c.943+2T>A;NM_001083625:exon7:c.874+2T>A;NM_001204056:exon7:c.874+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.874+2T>A;ENST00000262126:exon8:c.943+2T>A;ENST00000400020:exon7:c.874+2T>A;ENST00000546007:exon6:c.868+2T>A;ENST00000359158:exon2:c.269+2T>A)	.	.	0.999988247793601	0.912
18	9221999	T	C	18	9222001	y	y	splicing	ANKRD12(NM_015208:exon8:c.943+2T>C;NM_001083625:exon7:c.874+2T>C;NM_001204056:exon7:c.874+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.874+2T>C;ENST00000262126:exon8:c.943+2T>C;ENST00000400020:exon7:c.874+2T>C;ENST00000546007:exon6:c.868+2T>C;ENST00000359158:exon2:c.269+2T>C)	.	.	0.992054276455321	0.66
18	9221999	T	G	18	9222001	y	y	splicing	ANKRD12(NM_015208:exon8:c.943+2T>G;NM_001083625:exon7:c.874+2T>G;NM_001204056:exon7:c.874+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon7:c.874+2T>G;ENST00000262126:exon8:c.943+2T>G;ENST00000400020:exon7:c.874+2T>G;ENST00000546007:exon6:c.868+2T>G;ENST00000359158:exon2:c.269+2T>G)	.	.	0.999988247793601	0.912
18	9222000	T	A	18	9222002	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.35469537770684E-4	0.068
18	9222000	T	C	18	9222002	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00283856990376541	0.212
18	9222000	T	G	18	9222002	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.18041931591207E-4	0.022
18	9222001	T	A	18	9222003	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.43546112643513E-4	0.054
18	9222001	T	C	18	9222003	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.02333608536702E-4	0.074
18	9222001	T	G	18	9222003	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.32647795493773E-5	0.004
18	9222002	G	A	18	9222004	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999710523433056	0.996
18	9222002	G	C	18	9222004	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999968543938335	0.998
18	9222002	G	T	18	9222004	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.999780663092649	0.976
18	9222003	T	A	18	9222005	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.963322988263537	0.666
18	9222003	T	C	18	9222005	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.984754606499488	0.796
18	9222003	T	G	18	9222005	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.985084909546279	0.794
18	9222004	T	A	18	9222006	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0294639527777023	0.05
18	9222004	T	C	18	9222006	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00829250458881714	0.04
18	9222004	T	G	18	9222006	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00823923893856835	0.042
18	9222005	T	A	18	9222007	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.10014420204688E-4	0.078
18	9222005	T	C	18	9222007	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	8.84194802290105E-4	0.126
18	9222005	T	G	18	9222007	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00326918073349269	0.136
18	9239463	T	A	18	9239465	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.662511213311893	0.806
18	9239463	T	C	18	9239465	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.666132511586265	0.786
18	9239463	T	G	18	9239465	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.666132511586265	0.788
18	9239464	T	A	18	9239466	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.662511213311893	0.812
18	9239464	T	C	18	9239466	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.666132511586265	0.796
18	9239464	T	G	18	9239466	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.666132511586265	0.796
18	9239465	G	A	18	9239467	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0114563003734198	0.226
18	9239465	G	C	18	9239467	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0114563003734198	0.18
18	9239465	G	T	18	9239467	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0114563003734198	0.188
18	9239466	A	C	18	9239468	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.594322810047338	0.744
18	9239466	A	G	18	9239468	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.594322810047338	0.744
18	9239466	A	T	18	9239468	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.593602809226059	0.742
18	9239467	T	A	18	9239469	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00402408841202534	0.03
18	9239467	T	C	18	9239469	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00386165752286318	0.028
18	9239467	T	G	18	9239469	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00386165752286318	0.028
18	9239468	T	A	18	9239470	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.35500522259419E-4	0.014
18	9239468	T	C	18	9239470	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.35500522259419E-4	0.014
18	9239468	T	G	18	9239470	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.35500522259419E-4	0.032
18	9239469	T	A	18	9239471	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00402408841202534	0.028
18	9239469	T	C	18	9239471	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00386165752286318	0.028
18	9239469	T	G	18	9239471	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00386165752286318	0.028
18	9239470	T	A	18	9239472	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00402408841202534	0.028
18	9239470	T	C	18	9239472	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00386165752286318	0.028
18	9239470	T	G	18	9239472	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00386165752286318	0.028
18	9239471	T	A	18	9239473	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.35500522259419E-4	0.012
18	9239471	T	C	18	9239473	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.35500522259419E-4	0.012
18	9239471	T	G	18	9239473	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.35500522259419E-4	0.012
18	9239472	C	A	18	9239474	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0102637097925253	0.032
18	9239472	C	G	18	9239474	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0102637097925253	0.026
18	9239472	C	T	18	9239474	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0102637097925253	0.034
18	9239473	A	C	18	9239475	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.270-2A>C)	.	.	0.594322810047338	0.76
18	9239473	A	G	18	9239475	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.270-2A>G)	.	.	0.594322810047338	0.764
18	9239473	A	T	18	9239475	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.270-2A>T)	.	.	0.594322810047338	0.758
18	9239474	G	A	18	9239476	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.270-1G>A)	.	.	0.0387750410106305	0.204
18	9239474	G	C	18	9239476	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.270-1G>C)	.	.	0.0298439215599565	0.194
18	9239474	G	T	18	9239476	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.270-1G>T)	.	.	0.0332034636429039	0.198
18	9239475	A	C	18	9239477	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	unknown	UNKNOWN	3.74797798992081E-4	0.008
18	9239475	A	G	18	9239477	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	unknown	UNKNOWN	3.70900109007564E-4	0.008
18	9239475	A	T	18	9239477	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	unknown	UNKNOWN	3.74797798992081E-4	0.004
18	9239476	A	C	18	9239478	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	unknown	UNKNOWN	3.35500522259419E-4	0.01
18	9239476	A	G	18	9239478	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	unknown	UNKNOWN	2.63629494390912E-4	0.012
18	9239476	A	T	18	9239478	n	y	intronic	ANKRD12	.	.	exonic	ENSG00000101745	unknown	UNKNOWN	3.04375917686578E-4	0.01
18	9239552	T	A	18	9239554	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0275127247699427	0.084
18	9239552	T	C	18	9239554	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0203574326656527	0.036
18	9239552	T	G	18	9239554	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0203574326656527	0.036
18	9239553	C	A	18	9239555	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0173934650022037	0.034
18	9239553	C	G	18	9239555	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0144890812467892	0.028
18	9239553	C	T	18	9239555	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0173934650022037	0.032
18	9239554	A	C	18	9239556	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0203574326656527	0.036
18	9239554	A	G	18	9239556	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0203574326656527	0.036
18	9239554	A	T	18	9239556	n	y	intronic	ANKRD12	.	.	ncRNA_UTR3	ENSG00000101745	.	.	0.0275127247699427	0.084
18	9239555	G	A	18	9239557	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.349+1G>A)	.	.	0.0456301098052828	0.242
18	9239555	G	C	18	9239557	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.349+1G>C)	.	.	0.0391136102531048	0.228
18	9239555	G	T	18	9239557	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.349+1G>T)	.	.	0.0456301098052828	0.232
18	9239556	T	A	18	9239558	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.349+2T>A)	.	.	0.0138478110039505	0.174
18	9239556	T	C	18	9239558	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.349+2T>C)	.	.	0.010506108686543	0.154
18	9239556	T	G	18	9239558	n	y	intronic	ANKRD12	.	.	splicing	ENSG00000101745(ENST00000359158:exon3:c.349+2T>G)	.	.	0.010506108686543	0.156
18	9239557	A	C	18	9239559	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0110028651590261	0.028
18	9239557	A	G	18	9239559	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0110028651590261	0.028
18	9239557	A	T	18	9239559	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.028
18	9239558	A	C	18	9239560	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0110028651590261	0.028
18	9239558	A	G	18	9239560	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0110028651590261	0.028
18	9239558	A	T	18	9239560	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.028
18	9239559	G	A	18	9239561	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0167004328132565	0.03
18	9239559	G	C	18	9239561	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0097837775082716	0.026
18	9239559	G	T	18	9239561	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0097837775082716	0.034
18	9239560	T	A	18	9239562	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.03
18	9239560	T	C	18	9239562	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0110028651590261	0.03
18	9239560	T	G	18	9239562	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.03
18	9239561	A	C	18	9239563	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.03
18	9239561	A	G	18	9239563	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0110028651590261	0.03
18	9239561	A	T	18	9239563	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.03
18	9239562	T	A	18	9239564	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.03
18	9239562	T	C	18	9239564	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.03
18	9239562	T	G	18	9239564	n	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.013217798198991	0.03
18	9254197	T	A	18	9254199	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.59670222357373E-4	0.248
18	9254197	T	C	18	9254199	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	7.73172064823416E-4	0.052
18	9254197	T	G	18	9254199	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.00108195060107263	0.238
18	9254198	T	A	18	9254200	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.4310497751769E-5	0.164
18	9254198	T	C	18	9254200	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.20026104058283E-5	0.032
18	9254198	T	G	18	9254200	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.13972376712193E-5	0.172
18	9254199	T	A	18	9254201	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.55395393193743E-5	0.116
18	9254199	T	C	18	9254201	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.47923105959908E-5	0.064
18	9254199	T	G	18	9254201	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.39296855512283E-5	0.164
18	9254200	T	A	18	9254202	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.3479229140598E-5	0.048
18	9254200	T	C	18	9254202	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	3.04197365795473E-5	0.0
18	9254200	T	G	18	9254202	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.33655663897676E-5	0.08
18	9254201	T	A	18	9254203	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.48673379330256E-5	0.072
18	9254201	T	C	18	9254203	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.62876102489343E-5	0.046
18	9254201	T	G	18	9254203	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	5.59492553106805E-5	0.066
18	9254202	A	C	18	9254204	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.24823881279652E-5	0.12
18	9254202	A	G	18	9254204	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	6.50908476550919E-5	0.024
18	9254202	A	T	18	9254204	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.24823881279652E-5	0.12
18	9254203	T	A	18	9254205	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.18317056829418E-5	0.056
18	9254203	T	C	18	9254205	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	2.75884878868089E-5	0.09
18	9254203	T	G	18	9254205	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.997043497956638	0.71
18	9254204	T	A	18	9254206	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.07606295915801E-4	0.126
18	9254204	T	C	18	9254206	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.10862418496411E-5	0.01
18	9254204	T	G	18	9254206	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.40770245632856E-5	0.126
18	9254205	C	A	18	9254207	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	9.52149436284592E-6	0.008
18	9254205	C	G	18	9254207	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.84883225749702E-5	0.008
18	9254205	C	T	18	9254207	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	1.09222598498728E-5	0.008
18	9254206	T	A	18	9254208	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.0163634107224235	0.23
18	9254206	T	C	18	9254208	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	4.27701129122879E-4	0.036
18	9254206	T	G	18	9254208	y	y	intronic	ANKRD12	.	.	ncRNA_intronic	ENSG00000265257	.	.	0.9086973558962	0.49
18	9254207	A	C	18	9254209	y	y	splicing	ANKRD12(NM_015208:exon9:c.944-2A>C;NM_001083625:exon8:c.875-2A>C;NM_001204056:exon8:c.875-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.875-2A>C;ENST00000262126:exon9:c.944-2A>C;ENST00000400020:exon8:c.875-2A>C;ENST00000546007:exon7:c.869-2A>C;ENST00000359158:exon4:c.350-2A>C)	.	.	0.999939583170295	0.936
18	9254207	A	G	18	9254209	y	y	splicing	ANKRD12(NM_015208:exon9:c.944-2A>G;NM_001083625:exon8:c.875-2A>G;NM_001204056:exon8:c.875-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.875-2A>G;ENST00000262126:exon9:c.944-2A>G;ENST00000400020:exon8:c.875-2A>G;ENST00000546007:exon7:c.869-2A>G;ENST00000359158:exon4:c.350-2A>G)	.	.	0.999939583170295	0.936
18	9254207	A	T	18	9254209	y	y	splicing	ANKRD12(NM_015208:exon9:c.944-2A>T;NM_001083625:exon8:c.875-2A>T;NM_001204056:exon8:c.875-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.875-2A>T;ENST00000262126:exon9:c.944-2A>T;ENST00000400020:exon8:c.875-2A>T;ENST00000546007:exon7:c.869-2A>T;ENST00000359158:exon4:c.350-2A>T)	.	.	0.999939020951004	0.938
18	9254208	G	A	18	9254210	y	y	splicing	ANKRD12(NM_015208:exon9:c.944-1G>A;NM_001083625:exon8:c.875-1G>A;NM_001204056:exon8:c.875-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.875-1G>A;ENST00000262126:exon9:c.944-1G>A;ENST00000400020:exon8:c.875-1G>A;ENST00000546007:exon7:c.869-1G>A;ENST00000359158:exon4:c.350-1G>A)	.	.	0.999981760802075	0.938
18	9254208	G	C	18	9254210	y	y	splicing	ANKRD12(NM_015208:exon9:c.944-1G>C;NM_001083625:exon8:c.875-1G>C;NM_001204056:exon8:c.875-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.875-1G>C;ENST00000262126:exon9:c.944-1G>C;ENST00000400020:exon8:c.875-1G>C;ENST00000546007:exon7:c.869-1G>C;ENST00000359158:exon4:c.350-1G>C)	.	.	0.999981760802075	0.938
18	9254208	G	T	18	9254210	y	y	splicing	ANKRD12(NM_015208:exon9:c.944-1G>T;NM_001083625:exon8:c.875-1G>T;NM_001204056:exon8:c.875-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.875-1G>T;ENST00000262126:exon9:c.944-1G>T;ENST00000400020:exon8:c.875-1G>T;ENST00000546007:exon7:c.869-1G>T;ENST00000359158:exon4:c.350-1G>T)	.	.	0.999981760802075	0.938
18	9254209	A	C	18	9254211	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.A944C:p.D315A;ANKRD12:NM_001083625:exon8:c.A875C:p.D292A;ANKRD12:NM_001204056:exon8:c.A875C:p.D292A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A875C:p.D292A;ENSG00000101745:ENST00000262126:exon9:c.A944C:p.D315A;ENSG00000101745:ENST00000546007:exon7:c.A869C:p.D290A;ENSG00000101745:ENST00000400020:exon8:c.A875C:p.D292A;	0.02933378939823	0.238
18	9254209	A	G	18	9254211	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.A944G:p.D315G;ANKRD12:NM_001083625:exon8:c.A875G:p.D292G;ANKRD12:NM_001204056:exon8:c.A875G:p.D292G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A875G:p.D292G;ENSG00000101745:ENST00000262126:exon9:c.A944G:p.D315G;ENSG00000101745:ENST00000546007:exon7:c.A869G:p.D290G;ENSG00000101745:ENST00000400020:exon8:c.A875G:p.D292G;	0.00909094558951532	0.126
18	9254209	A	T	18	9254211	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.A944T:p.D315V;ANKRD12:NM_001083625:exon8:c.A875T:p.D292V;ANKRD12:NM_001204056:exon8:c.A875T:p.D292V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A875T:p.D292V;ENSG00000101745:ENST00000262126:exon9:c.A944T:p.D315V;ENSG00000101745:ENST00000546007:exon7:c.A869T:p.D290V;ENSG00000101745:ENST00000400020:exon8:c.A875T:p.D292V;	0.0357982116687529	0.204
18	9254210	T	A	18	9254212	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.T945A:p.D315E;ANKRD12:NM_001083625:exon8:c.T876A:p.D292E;ANKRD12:NM_001204056:exon8:c.T876A:p.D292E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.T876A:p.D292E;ENSG00000101745:ENST00000262126:exon9:c.T945A:p.D315E;ENSG00000101745:ENST00000546007:exon7:c.T870A:p.D290E;ENSG00000101745:ENST00000400020:exon8:c.T876A:p.D292E;	6.06230665502642E-4	0.006
18	9254210	T	C	18	9254212	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon9:c.T945C:p.D315D;ANKRD12:NM_001083625:exon8:c.T876C:p.D292D;ANKRD12:NM_001204056:exon8:c.T876C:p.D292D;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.T876C:p.D292D;ENSG00000101745:ENST00000262126:exon9:c.T945C:p.D315D;ENSG00000101745:ENST00000546007:exon7:c.T870C:p.D290D;ENSG00000101745:ENST00000400020:exon8:c.T876C:p.D292D;	6.66607115395889E-4	0.016
18	9254210	T	G	18	9254212	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.T945G:p.D315E;ANKRD12:NM_001083625:exon8:c.T876G:p.D292E;ANKRD12:NM_001204056:exon8:c.T876G:p.D292E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.T876G:p.D292E;ENSG00000101745:ENST00000262126:exon9:c.T945G:p.D315E;ENSG00000101745:ENST00000546007:exon7:c.T870G:p.D290E;ENSG00000101745:ENST00000400020:exon8:c.T876G:p.D292E;	0.00101762987872862	0.018
18	9258927	A	C	18	9258929	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.A5662C:p.T1888P;ANKRD12:NM_001083625:exon8:c.A5593C:p.T1865P;ANKRD12:NM_001204056:exon8:c.A5593C:p.T1865P;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A5593C:p.T1865P;ENSG00000101745:ENST00000262126:exon9:c.A5662C:p.T1888P;ENSG00000101745:ENST00000400020:exon8:c.A5593C:p.T1865P;	0.76208504135375	0.79
18	9258927	A	G	18	9258929	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.A5662G:p.T1888A;ANKRD12:NM_001083625:exon8:c.A5593G:p.T1865A;ANKRD12:NM_001204056:exon8:c.A5593G:p.T1865A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A5593G:p.T1865A;ENSG00000101745:ENST00000262126:exon9:c.A5662G:p.T1888A;ENSG00000101745:ENST00000400020:exon8:c.A5593G:p.T1865A;	0.205409227639863	0.474
18	9258927	A	T	18	9258929	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.A5662T:p.T1888S;ANKRD12:NM_001083625:exon8:c.A5593T:p.T1865S;ANKRD12:NM_001204056:exon8:c.A5593T:p.T1865S;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A5593T:p.T1865S;ENSG00000101745:ENST00000262126:exon9:c.A5662T:p.T1888S;ENSG00000101745:ENST00000400020:exon8:c.A5593T:p.T1865S;	0.91233145716055	0.57
18	9258928	C	A	18	9258930	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.C5663A:p.T1888K;ANKRD12:NM_001083625:exon8:c.C5594A:p.T1865K;ANKRD12:NM_001204056:exon8:c.C5594A:p.T1865K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.C5594A:p.T1865K;ENSG00000101745:ENST00000262126:exon9:c.C5663A:p.T1888K;ENSG00000101745:ENST00000400020:exon8:c.C5594A:p.T1865K;	0.959238515875853	0.738
18	9258928	C	G	18	9258930	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.C5663G:p.T1888R;ANKRD12:NM_001083625:exon8:c.C5594G:p.T1865R;ANKRD12:NM_001204056:exon8:c.C5594G:p.T1865R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.C5594G:p.T1865R;ENSG00000101745:ENST00000262126:exon9:c.C5663G:p.T1888R;ENSG00000101745:ENST00000400020:exon8:c.C5594G:p.T1865R;	0.98298052951047	0.928
18	9258928	C	T	18	9258930	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon9:c.C5663T:p.T1888I;ANKRD12:NM_001083625:exon8:c.C5594T:p.T1865I;ANKRD12:NM_001204056:exon8:c.C5594T:p.T1865I;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.C5594T:p.T1865I;ENSG00000101745:ENST00000262126:exon9:c.C5663T:p.T1888I;ENSG00000101745:ENST00000400020:exon8:c.C5594T:p.T1865I;	0.986350426212701	0.898
18	9258929	A	C	18	9258931	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon9:c.A5664C:p.T1888T;ANKRD12:NM_001083625:exon8:c.A5595C:p.T1865T;ANKRD12:NM_001204056:exon8:c.A5595C:p.T1865T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A5595C:p.T1865T;ENSG00000101745:ENST00000262126:exon9:c.A5664C:p.T1888T;ENSG00000101745:ENST00000400020:exon8:c.A5595C:p.T1865T;	8.32301350306376E-4	0.036
18	9258929	A	G	18	9258931	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon9:c.A5664G:p.T1888T;ANKRD12:NM_001083625:exon8:c.A5595G:p.T1865T;ANKRD12:NM_001204056:exon8:c.A5595G:p.T1865T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A5595G:p.T1865T;ENSG00000101745:ENST00000262126:exon9:c.A5664G:p.T1888T;ENSG00000101745:ENST00000400020:exon8:c.A5595G:p.T1865T;	4.71382003832238E-4	0.114
18	9258929	A	T	18	9258931	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon9:c.A5664T:p.T1888T;ANKRD12:NM_001083625:exon8:c.A5595T:p.T1865T;ANKRD12:NM_001204056:exon8:c.A5595T:p.T1865T;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon8:c.A5595T:p.T1865T;ENSG00000101745:ENST00000262126:exon9:c.A5664T:p.T1888T;ENSG00000101745:ENST00000400020:exon8:c.A5595T:p.T1865T;	0.00128305056798336	0.09
18	9258930	G	A	18	9258932	y	y	splicing	ANKRD12(NM_015208:exon9:c.5664+1G>A;NM_001083625:exon8:c.5595+1G>A;NM_001204056:exon8:c.5595+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.5595+1G>A;ENST00000262126:exon9:c.5664+1G>A;ENST00000400020:exon8:c.5595+1G>A)	.	.	0.999990361384395	0.938
18	9258930	G	C	18	9258932	y	y	splicing	ANKRD12(NM_015208:exon9:c.5664+1G>C;NM_001083625:exon8:c.5595+1G>C;NM_001204056:exon8:c.5595+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.5595+1G>C;ENST00000262126:exon9:c.5664+1G>C;ENST00000400020:exon8:c.5595+1G>C)	.	.	0.999990361384395	0.938
18	9258930	G	T	18	9258932	y	y	splicing	ANKRD12(NM_015208:exon9:c.5664+1G>T;NM_001083625:exon8:c.5595+1G>T;NM_001204056:exon8:c.5595+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.5595+1G>T;ENST00000262126:exon9:c.5664+1G>T;ENST00000400020:exon8:c.5595+1G>T)	.	.	0.999990361384395	0.938
18	9258931	T	A	18	9258933	y	y	splicing	ANKRD12(NM_015208:exon9:c.5664+2T>A;NM_001083625:exon8:c.5595+2T>A;NM_001204056:exon8:c.5595+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.5595+2T>A;ENST00000262126:exon9:c.5664+2T>A;ENST00000400020:exon8:c.5595+2T>A)	.	.	0.999988247793601	0.93
18	9258931	T	C	18	9258933	y	y	splicing	ANKRD12(NM_015208:exon9:c.5664+2T>C;NM_001083625:exon8:c.5595+2T>C;NM_001204056:exon8:c.5595+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.5595+2T>C;ENST00000262126:exon9:c.5664+2T>C;ENST00000400020:exon8:c.5595+2T>C)	.	.	0.992577803696025	0.698
18	9258931	T	G	18	9258933	y	y	splicing	ANKRD12(NM_015208:exon9:c.5664+2T>G;NM_001083625:exon8:c.5595+2T>G;NM_001204056:exon8:c.5595+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon8:c.5595+2T>G;ENST00000262126:exon9:c.5664+2T>G;ENST00000400020:exon8:c.5595+2T>G)	.	.	0.999988247793601	0.93
18	9258932	A	C	18	9258934	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.99972125565525	0.964
18	9258932	A	G	18	9258934	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.692836090304754	0.414
18	9258932	A	T	18	9258934	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999645123574759	0.976
18	9258933	A	C	18	9258935	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.997209615584975	0.794
18	9258933	A	G	18	9258935	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998606041908862	0.94
18	9258933	A	T	18	9258935	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998809754569263	0.938
18	9258934	G	A	18	9258936	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999981313116355	0.996
18	9258934	G	C	18	9258936	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999984467925432	0.946
18	9258934	G	T	18	9258936	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999988288829567	0.956
18	9258935	T	A	18	9258937	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.993605102502882	0.69
18	9258935	T	C	18	9258937	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.985321345578632	0.828
18	9258935	T	G	18	9258937	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.9974647963667	0.934
18	9258936	A	C	18	9258938	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.99025567595454E-5	0.0
18	9258936	A	G	18	9258938	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.53060765505567E-5	0.004
18	9258936	A	T	18	9258938	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.99025567595454E-5	0.0
18	9258937	A	C	18	9258939	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.19659705624029E-5	0.002
18	9258937	A	G	18	9258939	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.44424870991205E-5	0.002
18	9258937	A	T	18	9258939	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.19659705624029E-5	0.006
18	9263776	C	A	18	9263778	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00107304701846864	0.016
18	9263776	C	G	18	9263778	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.96467428217023E-4	0.036
18	9263776	C	T	18	9263778	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.12771139952412E-5	0.0
18	9263777	T	A	18	9263779	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.952656006482911	0.888
18	9263777	T	C	18	9263779	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0734272558403183	0.406
18	9263777	T	G	18	9263779	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.783020753317063	0.73
18	9263778	T	A	18	9263780	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.850604334011816	0.718
18	9263778	T	C	18	9263780	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00308559738037755	0.104
18	9263778	T	G	18	9263780	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0631880028644912	0.656
18	9263779	T	A	18	9263781	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00953784609195668	0.21
18	9263779	T	C	18	9263781	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	7.54646224693676E-4	0.104
18	9263779	T	G	18	9263781	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0210939054017574	0.208
18	9263780	T	A	18	9263782	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	8.44916465636676E-4	0.168
18	9263780	T	C	18	9263782	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	4.35052487886037E-5	0.032
18	9263780	T	G	18	9263782	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	5.55605558730177E-4	0.098
18	9263781	T	A	18	9263783	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.30259071334835E-4	0.152
18	9263781	T	C	18	9263783	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	9.35604870076585E-5	0.072
18	9263781	T	G	18	9263783	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.88185123696896E-4	0.182
18	9263782	A	C	18	9263784	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.84562664633751E-4	0.024
18	9263782	A	G	18	9263784	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.87654277243855E-4	0.068
18	9263782	A	T	18	9263784	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.84562664633751E-4	0.03
18	9263783	A	C	18	9263785	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.95827695366948E-4	0.004
18	9263783	A	G	18	9263785	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999789352192974	0.992
18	9263783	A	T	18	9263785	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.7976371952695E-4	0.094
18	9263784	T	A	18	9263786	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00416838576899937	0.024
18	9263784	T	C	18	9263786	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	5.50962235460806E-4	0.03
18	9263784	T	G	18	9263786	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999640492222198	0.934
18	9263785	T	A	18	9263787	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.639603690092399	0.48
18	9263785	T	C	18	9263787	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.74062841840432E-4	0.01
18	9263785	T	G	18	9263787	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998972238820353	0.814
18	9263786	A	C	18	9263788	y	y	splicing	ANKRD12(NM_015208:exon10:c.5665-2A>C;NM_001083625:exon9:c.5596-2A>C;NM_001204056:exon9:c.5596-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5596-2A>C;ENST00000262126:exon10:c.5665-2A>C;ENST00000400020:exon9:c.5596-2A>C)	.	.	0.999990764389106	0.934
18	9263786	A	G	18	9263788	y	y	splicing	ANKRD12(NM_015208:exon10:c.5665-2A>G;NM_001083625:exon9:c.5596-2A>G;NM_001204056:exon9:c.5596-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5596-2A>G;ENST00000262126:exon10:c.5665-2A>G;ENST00000400020:exon9:c.5596-2A>G)	.	.	0.999990764389106	0.934
18	9263786	A	T	18	9263788	y	y	splicing	ANKRD12(NM_015208:exon10:c.5665-2A>T;NM_001083625:exon9:c.5596-2A>T;NM_001204056:exon9:c.5596-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5596-2A>T;ENST00000262126:exon10:c.5665-2A>T;ENST00000400020:exon9:c.5596-2A>T)	.	.	0.999990764389106	0.934
18	9263787	G	A	18	9263789	y	y	splicing	ANKRD12(NM_015208:exon10:c.5665-1G>A;NM_001083625:exon9:c.5596-1G>A;NM_001204056:exon9:c.5596-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5596-1G>A;ENST00000262126:exon10:c.5665-1G>A;ENST00000400020:exon9:c.5596-1G>A)	.	.	0.999991412108771	0.936
18	9263787	G	C	18	9263789	y	y	splicing	ANKRD12(NM_015208:exon10:c.5665-1G>C;NM_001083625:exon9:c.5596-1G>C;NM_001204056:exon9:c.5596-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5596-1G>C;ENST00000262126:exon10:c.5665-1G>C;ENST00000400020:exon9:c.5596-1G>C)	.	.	0.999991412108771	0.936
18	9263787	G	T	18	9263789	y	y	splicing	ANKRD12(NM_015208:exon10:c.5665-1G>T;NM_001083625:exon9:c.5596-1G>T;NM_001204056:exon9:c.5596-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5596-1G>T;ENST00000262126:exon10:c.5665-1G>T;ENST00000400020:exon9:c.5596-1G>T)	.	.	0.999991412108771	0.936
18	9263788	A	C	18	9263790	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.A5665C:p.I1889L;ANKRD12:NM_001083625:exon9:c.A5596C:p.I1866L;ANKRD12:NM_001204056:exon9:c.A5596C:p.I1866L;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.A5596C:p.I1866L;ENSG00000101745:ENST00000262126:exon10:c.A5665C:p.I1889L;ENSG00000101745:ENST00000400020:exon9:c.A5596C:p.I1866L;	0.908132281650911	0.62
18	9263788	A	G	18	9263790	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.A5665G:p.I1889V;ANKRD12:NM_001083625:exon9:c.A5596G:p.I1866V;ANKRD12:NM_001204056:exon9:c.A5596G:p.I1866V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.A5596G:p.I1866V;ENSG00000101745:ENST00000262126:exon10:c.A5665G:p.I1889V;ENSG00000101745:ENST00000400020:exon9:c.A5596G:p.I1866V;	0.47415244699704	0.556
18	9263788	A	T	18	9263790	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.A5665T:p.I1889F;ANKRD12:NM_001083625:exon9:c.A5596T:p.I1866F;ANKRD12:NM_001204056:exon9:c.A5596T:p.I1866F;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.A5596T:p.I1866F;ENSG00000101745:ENST00000262126:exon10:c.A5665T:p.I1889F;ENSG00000101745:ENST00000400020:exon9:c.A5596T:p.I1866F;	0.911515718574368	0.552
18	9263789	T	A	18	9263791	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.T5666A:p.I1889N;ANKRD12:NM_001083625:exon9:c.T5597A:p.I1866N;ANKRD12:NM_001204056:exon9:c.T5597A:p.I1866N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.T5597A:p.I1866N;ENSG00000101745:ENST00000262126:exon10:c.T5666A:p.I1889N;ENSG00000101745:ENST00000400020:exon9:c.T5597A:p.I1866N;	0.832623429513151	0.406
18	9263789	T	C	18	9263791	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.T5666C:p.I1889T;ANKRD12:NM_001083625:exon9:c.T5597C:p.I1866T;ANKRD12:NM_001204056:exon9:c.T5597C:p.I1866T;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.T5597C:p.I1866T;ENSG00000101745:ENST00000262126:exon10:c.T5666C:p.I1889T;ENSG00000101745:ENST00000400020:exon9:c.T5597C:p.I1866T;	0.856055931253556	0.46
18	9263789	T	G	18	9263791	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.T5666G:p.I1889S;ANKRD12:NM_001083625:exon9:c.T5597G:p.I1866S;ANKRD12:NM_001204056:exon9:c.T5597G:p.I1866S;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.T5597G:p.I1866S;ENSG00000101745:ENST00000262126:exon10:c.T5666G:p.I1889S;ENSG00000101745:ENST00000400020:exon9:c.T5597G:p.I1866S;	0.780116296307869	0.406
18	9263884	A	C	18	9263886	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon10:c.A5761C:p.R1921R;ANKRD12:NM_001083625:exon9:c.A5692C:p.R1898R;ANKRD12:NM_001204056:exon9:c.A5692C:p.R1898R;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.A5692C:p.R1898R;ENSG00000101745:ENST00000262126:exon10:c.A5761C:p.R1921R;ENSG00000101745:ENST00000400020:exon9:c.A5692C:p.R1898R;	0.00518490571828232	0.02
18	9263884	A	G	18	9263886	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.A5761G:p.R1921G;ANKRD12:NM_001083625:exon9:c.A5692G:p.R1898G;ANKRD12:NM_001204056:exon9:c.A5692G:p.R1898G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.A5692G:p.R1898G;ENSG00000101745:ENST00000262126:exon10:c.A5761G:p.R1921G;ENSG00000101745:ENST00000400020:exon9:c.A5692G:p.R1898G;	0.520202792719486	0.552
18	9263884	A	T	18	9263886	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.A5761T:p.R1921W;ANKRD12:NM_001083625:exon9:c.A5692T:p.R1898W;ANKRD12:NM_001204056:exon9:c.A5692T:p.R1898W;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.A5692T:p.R1898W;ENSG00000101745:ENST00000262126:exon10:c.A5761T:p.R1921W;ENSG00000101745:ENST00000400020:exon9:c.A5692T:p.R1898W;	0.936254428308439	0.592
18	9263885	G	A	18	9263887	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.G5762A:p.R1921K;ANKRD12:NM_001083625:exon9:c.G5693A:p.R1898K;ANKRD12:NM_001204056:exon9:c.G5693A:p.R1898K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.G5693A:p.R1898K;ENSG00000101745:ENST00000262126:exon10:c.G5762A:p.R1921K;ENSG00000101745:ENST00000400020:exon9:c.G5693A:p.R1898K;	0.978380249305597	0.702
18	9263885	G	C	18	9263887	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.G5762C:p.R1921T;ANKRD12:NM_001083625:exon9:c.G5693C:p.R1898T;ANKRD12:NM_001204056:exon9:c.G5693C:p.R1898T;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.G5693C:p.R1898T;ENSG00000101745:ENST00000262126:exon10:c.G5762C:p.R1921T;ENSG00000101745:ENST00000400020:exon9:c.G5693C:p.R1898T;	0.995618830681449	0.918
18	9263885	G	T	18	9263887	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.G5762T:p.R1921M;ANKRD12:NM_001083625:exon9:c.G5693T:p.R1898M;ANKRD12:NM_001204056:exon9:c.G5693T:p.R1898M;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.G5693T:p.R1898M;ENSG00000101745:ENST00000262126:exon10:c.G5762T:p.R1921M;ENSG00000101745:ENST00000400020:exon9:c.G5693T:p.R1898M;	0.994826608854504	0.864
18	9263886	G	A	18	9263888	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon10:c.G5763A:p.R1921R;ANKRD12:NM_001083625:exon9:c.G5694A:p.R1898R;ANKRD12:NM_001204056:exon9:c.G5694A:p.R1898R;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.G5694A:p.R1898R;ENSG00000101745:ENST00000262126:exon10:c.G5763A:p.R1921R;ENSG00000101745:ENST00000400020:exon9:c.G5694A:p.R1898R;	0.999928747074236	0.984
18	9263886	G	C	18	9263888	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.G5763C:p.R1921S;ANKRD12:NM_001083625:exon9:c.G5694C:p.R1898S;ANKRD12:NM_001204056:exon9:c.G5694C:p.R1898S;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.G5694C:p.R1898S;ENSG00000101745:ENST00000262126:exon10:c.G5763C:p.R1921S;ENSG00000101745:ENST00000400020:exon9:c.G5694C:p.R1898S;	0.999987582713126	0.98
18	9263886	G	T	18	9263888	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon10:c.G5763T:p.R1921S;ANKRD12:NM_001083625:exon9:c.G5694T:p.R1898S;ANKRD12:NM_001204056:exon9:c.G5694T:p.R1898S;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon9:c.G5694T:p.R1898S;ENSG00000101745:ENST00000262126:exon10:c.G5763T:p.R1921S;ENSG00000101745:ENST00000400020:exon9:c.G5694T:p.R1898S;	0.999992465663694	1.0
18	9263887	G	A	18	9263889	y	y	splicing	ANKRD12(NM_015208:exon10:c.5763+1G>A;NM_001083625:exon9:c.5694+1G>A;NM_001204056:exon9:c.5694+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5694+1G>A;ENST00000262126:exon10:c.5763+1G>A;ENST00000400020:exon9:c.5694+1G>A)	.	.	0.999990361384395	0.938
18	9263887	G	C	18	9263889	y	y	splicing	ANKRD12(NM_015208:exon10:c.5763+1G>C;NM_001083625:exon9:c.5694+1G>C;NM_001204056:exon9:c.5694+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5694+1G>C;ENST00000262126:exon10:c.5763+1G>C;ENST00000400020:exon9:c.5694+1G>C)	.	.	0.999990361384395	0.938
18	9263887	G	T	18	9263889	y	y	splicing	ANKRD12(NM_015208:exon10:c.5763+1G>T;NM_001083625:exon9:c.5694+1G>T;NM_001204056:exon9:c.5694+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5694+1G>T;ENST00000262126:exon10:c.5763+1G>T;ENST00000400020:exon9:c.5694+1G>T)	.	.	0.999990361384395	0.938
18	9263888	T	A	18	9263890	y	y	splicing	ANKRD12(NM_015208:exon10:c.5763+2T>A;NM_001083625:exon9:c.5694+2T>A;NM_001204056:exon9:c.5694+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5694+2T>A;ENST00000262126:exon10:c.5763+2T>A;ENST00000400020:exon9:c.5694+2T>A)	.	.	0.999988247793601	0.932
18	9263888	T	C	18	9263890	y	y	splicing	ANKRD12(NM_015208:exon10:c.5763+2T>C;NM_001083625:exon9:c.5694+2T>C;NM_001204056:exon9:c.5694+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5694+2T>C;ENST00000262126:exon10:c.5763+2T>C;ENST00000400020:exon9:c.5694+2T>C)	.	.	0.99991522016916	0.89
18	9263888	T	G	18	9263890	y	y	splicing	ANKRD12(NM_015208:exon10:c.5763+2T>G;NM_001083625:exon9:c.5694+2T>G;NM_001204056:exon9:c.5694+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon9:c.5694+2T>G;ENST00000262126:exon10:c.5763+2T>G;ENST00000400020:exon9:c.5694+2T>G)	.	.	0.999988247793601	0.932
18	9263889	A	C	18	9263891	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.995705057898711	0.876
18	9263889	A	G	18	9263891	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0210242053693198	0.24
18	9263889	A	T	18	9263891	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998931340509059	0.778
18	9263890	A	C	18	9263892	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.918317186162611	0.61
18	9263890	A	G	18	9263892	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.933577161894663	0.716
18	9263890	A	T	18	9263892	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.952431811782228	0.668
18	9263891	G	A	18	9263893	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.986900384999521	0.774
18	9263891	G	C	18	9263893	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998915757156535	0.862
18	9263891	G	T	18	9263893	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.994982583796903	0.742
18	9263892	A	C	18	9263894	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.7416343065987E-4	0.034
18	9263892	A	G	18	9263894	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.22856371644892E-4	0.0
18	9263892	A	T	18	9263894	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	6.62816919102079E-5	0.018
18	9263893	A	C	18	9263895	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.1250059405701E-4	0.002
18	9263893	A	G	18	9263895	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	6.170626962848E-5	0.002
18	9263893	A	T	18	9263895	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	7.78344869397307E-5	0.0
18	9263894	A	C	18	9263896	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.47348756796826E-5	0.0
18	9263894	A	G	18	9263896	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.3004317960578E-5	0.0
18	9263894	A	T	18	9263896	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.90983781760084E-5	0.0
18	9275510	T	A	18	9275512	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.079278320460669	0.406
18	9275510	T	C	18	9275512	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	4.67942148184979E-4	0.024
18	9275510	T	G	18	9275512	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0031529300217691	0.2
18	9275511	T	A	18	9275513	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.155710645223752	0.512
18	9275511	T	C	18	9275513	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	9.30706300634888E-4	0.182
18	9275511	T	G	18	9275513	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.119838495871308	0.474
18	9275512	A	C	18	9275514	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.51248515635786E-5	0.008
18	9275512	A	G	18	9275514	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.3825400475259E-5	0.002
18	9275512	A	T	18	9275514	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.63062931318861E-5	0.002
18	9275513	T	A	18	9275515	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.876207121909737	0.764
18	9275513	T	C	18	9275515	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0191225481411194	0.12
18	9275513	T	G	18	9275515	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999959539798442	0.97
18	9275514	T	A	18	9275516	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0259470418392166	0.358
18	9275514	T	C	18	9275516	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.75879191638554E-4	0.012
18	9275514	T	G	18	9275516	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0210960996903014	0.404
18	9275515	C	A	18	9275517	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.143737660530455	0.184
18	9275515	C	G	18	9275517	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0594676914486839	0.276
18	9275515	C	T	18	9275517	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	9.09480446420137E-4	0.066
18	9275516	A	C	18	9275518	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.28074192315385E-4	0.038
18	9275516	A	G	18	9275518	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00368199393226629	0.122
18	9275516	A	T	18	9275518	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.54975790763956E-4	0.054
18	9275517	A	C	18	9275519	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.33988492897899E-5	0.116
18	9275517	A	G	18	9275519	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.997056683966232	0.978
18	9275517	A	T	18	9275519	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.1625039844467E-5	0.016
18	9275518	C	A	18	9275520	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00426819013156494	0.088
18	9275518	C	G	18	9275520	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999931276661359	0.946
18	9275518	C	T	18	9275520	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0170004337071874	0.122
18	9275519	T	A	18	9275521	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.892906360892382	0.646
18	9275519	T	C	18	9275521	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00119557144245723	0.104
18	9275519	T	G	18	9275521	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998448658460142	0.914
18	9275520	A	C	18	9275522	y	y	splicing	ANKRD12(NM_015208:exon11:c.5764-2A>C;NM_001083625:exon10:c.5695-2A>C;NM_001204056:exon10:c.5695-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5695-2A>C;ENST00000262126:exon11:c.5764-2A>C;ENST00000400020:exon10:c.5695-2A>C)	.	.	0.999986741007567	0.944
18	9275520	A	G	18	9275522	y	y	splicing	ANKRD12(NM_015208:exon11:c.5764-2A>G;NM_001083625:exon10:c.5695-2A>G;NM_001204056:exon10:c.5695-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5695-2A>G;ENST00000262126:exon11:c.5764-2A>G;ENST00000400020:exon10:c.5695-2A>G)	.	.	0.999986741007567	0.944
18	9275520	A	T	18	9275522	y	y	splicing	ANKRD12(NM_015208:exon11:c.5764-2A>T;NM_001083625:exon10:c.5695-2A>T;NM_001204056:exon10:c.5695-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5695-2A>T;ENST00000262126:exon11:c.5764-2A>T;ENST00000400020:exon10:c.5695-2A>T)	.	.	0.999986741007567	0.944
18	9275521	G	A	18	9275523	y	y	splicing	ANKRD12(NM_015208:exon11:c.5764-1G>A;NM_001083625:exon10:c.5695-1G>A;NM_001204056:exon10:c.5695-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5695-1G>A;ENST00000262126:exon11:c.5764-1G>A;ENST00000400020:exon10:c.5695-1G>A)	.	.	0.999989125585301	0.944
18	9275521	G	C	18	9275523	y	y	splicing	ANKRD12(NM_015208:exon11:c.5764-1G>C;NM_001083625:exon10:c.5695-1G>C;NM_001204056:exon10:c.5695-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5695-1G>C;ENST00000262126:exon11:c.5764-1G>C;ENST00000400020:exon10:c.5695-1G>C)	.	.	0.999989125585301	0.944
18	9275521	G	T	18	9275523	y	y	splicing	ANKRD12(NM_015208:exon11:c.5764-1G>T;NM_001083625:exon10:c.5695-1G>T;NM_001204056:exon10:c.5695-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5695-1G>T;ENST00000262126:exon11:c.5764-1G>T;ENST00000400020:exon10:c.5695-1G>T)	.	.	0.999989125585301	0.944
18	9275522	G	A	18	9275524	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.G5764A:p.E1922K;ANKRD12:NM_001083625:exon10:c.G5695A:p.E1899K;ANKRD12:NM_001204056:exon10:c.G5695A:p.E1899K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.G5695A:p.E1899K;ENSG00000101745:ENST00000262126:exon11:c.G5764A:p.E1922K;ENSG00000101745:ENST00000400020:exon10:c.G5695A:p.E1899K;	0.99990008547549	0.948
18	9275522	G	C	18	9275524	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.G5764C:p.E1922Q;ANKRD12:NM_001083625:exon10:c.G5695C:p.E1899Q;ANKRD12:NM_001204056:exon10:c.G5695C:p.E1899Q;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.G5695C:p.E1899Q;ENSG00000101745:ENST00000262126:exon11:c.G5764C:p.E1922Q;ENSG00000101745:ENST00000400020:exon10:c.G5695C:p.E1899Q;	0.999939732935123	0.972
18	9275522	G	T	18	9275524	y	y	exonic	ANKRD12	stopgain SNV	ANKRD12:NM_015208:exon11:c.G5764T:p.E1922X;ANKRD12:NM_001083625:exon10:c.G5695T:p.E1899X;ANKRD12:NM_001204056:exon10:c.G5695T:p.E1899X;	exonic	ENSG00000101745	stopgain SNV	ENSG00000101745:ENST00000383440:exon10:c.G5695T:p.E1899X;ENSG00000101745:ENST00000262126:exon11:c.G5764T:p.E1922X;ENSG00000101745:ENST00000400020:exon10:c.G5695T:p.E1899X;	0.999955974641661	0.994
18	9275523	A	C	18	9275525	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.A5765C:p.E1922A;ANKRD12:NM_001083625:exon10:c.A5696C:p.E1899A;ANKRD12:NM_001204056:exon10:c.A5696C:p.E1899A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.A5696C:p.E1899A;ENSG00000101745:ENST00000262126:exon11:c.A5765C:p.E1922A;ENSG00000101745:ENST00000400020:exon10:c.A5696C:p.E1899A;	0.930703787664521	0.846
18	9275523	A	G	18	9275525	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.A5765G:p.E1922G;ANKRD12:NM_001083625:exon10:c.A5696G:p.E1899G;ANKRD12:NM_001204056:exon10:c.A5696G:p.E1899G;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.A5696G:p.E1899G;ENSG00000101745:ENST00000262126:exon11:c.A5765G:p.E1922G;ENSG00000101745:ENST00000400020:exon10:c.A5696G:p.E1899G;	0.940394399396603	0.762
18	9275523	A	T	18	9275525	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.A5765T:p.E1922V;ANKRD12:NM_001083625:exon10:c.A5696T:p.E1899V;ANKRD12:NM_001204056:exon10:c.A5696T:p.E1899V;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.A5696T:p.E1899V;ENSG00000101745:ENST00000262126:exon11:c.A5765T:p.E1922V;ENSG00000101745:ENST00000400020:exon10:c.A5696T:p.E1899V;	0.924993034656489	0.79
18	9275663	C	A	18	9275665	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.C5905A:p.Q1969K;ANKRD12:NM_001083625:exon10:c.C5836A:p.Q1946K;ANKRD12:NM_001204056:exon10:c.C5836A:p.Q1946K;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.C5836A:p.Q1946K;ENSG00000101745:ENST00000262126:exon11:c.C5905A:p.Q1969K;ENSG00000101745:ENST00000400020:exon10:c.C5836A:p.Q1946K;	0.958085362456059	0.812
18	9275663	C	G	18	9275665	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.C5905G:p.Q1969E;ANKRD12:NM_001083625:exon10:c.C5836G:p.Q1946E;ANKRD12:NM_001204056:exon10:c.C5836G:p.Q1946E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.C5836G:p.Q1946E;ENSG00000101745:ENST00000262126:exon11:c.C5905G:p.Q1969E;ENSG00000101745:ENST00000400020:exon10:c.C5836G:p.Q1946E;	0.946637727583966	0.652
18	9275663	C	T	18	9275665	y	y	exonic	ANKRD12	stopgain SNV	ANKRD12:NM_015208:exon11:c.C5905T:p.Q1969X;ANKRD12:NM_001083625:exon10:c.C5836T:p.Q1946X;ANKRD12:NM_001204056:exon10:c.C5836T:p.Q1946X;	exonic	ENSG00000101745	stopgain SNV	ENSG00000101745:ENST00000383440:exon10:c.C5836T:p.Q1946X;ENSG00000101745:ENST00000262126:exon11:c.C5905T:p.Q1969X;ENSG00000101745:ENST00000400020:exon10:c.C5836T:p.Q1946X;	0.999860248665723	0.986
18	9275664	A	C	18	9275666	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.A5906C:p.Q1969P;ANKRD12:NM_001083625:exon10:c.A5837C:p.Q1946P;ANKRD12:NM_001204056:exon10:c.A5837C:p.Q1946P;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.A5837C:p.Q1946P;ENSG00000101745:ENST00000262126:exon11:c.A5906C:p.Q1969P;ENSG00000101745:ENST00000400020:exon10:c.A5837C:p.Q1946P;	0.999648453951458	0.988
18	9275664	A	G	18	9275666	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.A5906G:p.Q1969R;ANKRD12:NM_001083625:exon10:c.A5837G:p.Q1946R;ANKRD12:NM_001204056:exon10:c.A5837G:p.Q1946R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.A5837G:p.Q1946R;ENSG00000101745:ENST00000262126:exon11:c.A5906G:p.Q1969R;ENSG00000101745:ENST00000400020:exon10:c.A5837G:p.Q1946R;	0.999828597588517	0.994
18	9275664	A	T	18	9275666	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.A5906T:p.Q1969L;ANKRD12:NM_001083625:exon10:c.A5837T:p.Q1946L;ANKRD12:NM_001204056:exon10:c.A5837T:p.Q1946L;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.A5837T:p.Q1946L;ENSG00000101745:ENST00000262126:exon11:c.A5906T:p.Q1969L;ENSG00000101745:ENST00000400020:exon10:c.A5837T:p.Q1946L;	0.999926399064371	0.998
18	9275665	G	A	18	9275667	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon11:c.G5907A:p.Q1969Q;ANKRD12:NM_001083625:exon10:c.G5838A:p.Q1946Q;ANKRD12:NM_001204056:exon10:c.G5838A:p.Q1946Q;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.G5838A:p.Q1946Q;ENSG00000101745:ENST00000262126:exon11:c.G5907A:p.Q1969Q;ENSG00000101745:ENST00000400020:exon10:c.G5838A:p.Q1946Q;	0.999977270288241	1.0
18	9275665	G	C	18	9275667	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.G5907C:p.Q1969H;ANKRD12:NM_001083625:exon10:c.G5838C:p.Q1946H;ANKRD12:NM_001204056:exon10:c.G5838C:p.Q1946H;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.G5838C:p.Q1946H;ENSG00000101745:ENST00000262126:exon11:c.G5907C:p.Q1969H;ENSG00000101745:ENST00000400020:exon10:c.G5838C:p.Q1946H;	0.999997871243653	1.0
18	9275665	G	T	18	9275667	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon11:c.G5907T:p.Q1969H;ANKRD12:NM_001083625:exon10:c.G5838T:p.Q1946H;ANKRD12:NM_001204056:exon10:c.G5838T:p.Q1946H;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon10:c.G5838T:p.Q1946H;ENSG00000101745:ENST00000262126:exon11:c.G5907T:p.Q1969H;ENSG00000101745:ENST00000400020:exon10:c.G5838T:p.Q1946H;	0.999992084630314	1.0
18	9275666	G	A	18	9275668	y	y	splicing	ANKRD12(NM_015208:exon11:c.5907+1G>A;NM_001083625:exon10:c.5838+1G>A;NM_001204056:exon10:c.5838+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5838+1G>A;ENST00000262126:exon11:c.5907+1G>A;ENST00000400020:exon10:c.5838+1G>A)	.	.	0.999989072007339	0.934
18	9275666	G	C	18	9275668	y	y	splicing	ANKRD12(NM_015208:exon11:c.5907+1G>C;NM_001083625:exon10:c.5838+1G>C;NM_001204056:exon10:c.5838+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5838+1G>C;ENST00000262126:exon11:c.5907+1G>C;ENST00000400020:exon10:c.5838+1G>C)	.	.	0.999989072007339	0.934
18	9275666	G	T	18	9275668	y	y	splicing	ANKRD12(NM_015208:exon11:c.5907+1G>T;NM_001083625:exon10:c.5838+1G>T;NM_001204056:exon10:c.5838+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5838+1G>T;ENST00000262126:exon11:c.5907+1G>T;ENST00000400020:exon10:c.5838+1G>T)	.	.	0.999989072007339	0.934
18	9275667	T	A	18	9275669	y	y	splicing	ANKRD12(NM_015208:exon11:c.5907+2T>A;NM_001083625:exon10:c.5838+2T>A;NM_001204056:exon10:c.5838+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5838+2T>A;ENST00000262126:exon11:c.5907+2T>A;ENST00000400020:exon10:c.5838+2T>A)	.	.	0.999988247793601	0.93
18	9275667	T	C	18	9275669	y	y	splicing	ANKRD12(NM_015208:exon11:c.5907+2T>C;NM_001083625:exon10:c.5838+2T>C;NM_001204056:exon10:c.5838+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5838+2T>C;ENST00000262126:exon11:c.5907+2T>C;ENST00000400020:exon10:c.5838+2T>C)	.	.	0.996722896740774	0.706
18	9275667	T	G	18	9275669	y	y	splicing	ANKRD12(NM_015208:exon11:c.5907+2T>G;NM_001083625:exon10:c.5838+2T>G;NM_001204056:exon10:c.5838+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon10:c.5838+2T>G;ENST00000262126:exon11:c.5907+2T>G;ENST00000400020:exon10:c.5838+2T>G)	.	.	0.999988247793601	0.93
18	9275668	A	C	18	9275670	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999905339704942	0.972
18	9275668	A	G	18	9275670	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.995546295481642	0.87
18	9275668	A	T	18	9275670	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999870589521208	0.926
18	9275669	A	C	18	9275671	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.128990092947798	0.294
18	9275669	A	G	18	9275671	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.251599099135851	0.328
18	9275669	A	T	18	9275671	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.659182278753125	0.366
18	9275670	A	C	18	9275672	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.17173243559976E-4	0.032
18	9275670	A	G	18	9275672	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.33273486144363E-4	0.03
18	9275670	A	T	18	9275672	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.35330843154496E-4	0.028
18	9275671	A	C	18	9275673	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	6.66633152199328E-4	0.09
18	9275671	A	G	18	9275673	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.54774980949211E-4	0.07
18	9275671	A	T	18	9275673	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	4.89359344853178E-5	0.062
18	9275672	T	A	18	9275674	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	8.0620249398171E-4	0.0
18	9275672	T	C	18	9275674	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	6.74080668089062E-4	0.0
18	9275672	T	G	18	9275674	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	5.23434141490918E-4	0.0
18	9275673	G	A	18	9275675	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.616925007394E-4	0.016
18	9275673	G	C	18	9275675	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.43899862744185E-4	0.004
18	9275673	G	T	18	9275675	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.05446358336687E-4	0.004
18	9279535	T	A	18	9279537	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00137697074077595	0.082
18	9279535	T	C	18	9279537	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	7.28310925583593E-5	0.016
18	9279535	T	G	18	9279537	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.15142239454759E-4	0.054
18	9279536	T	A	18	9279538	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0483353415858893	0.37
18	9279536	T	C	18	9279538	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00586395746894507	0.09
18	9279536	T	G	18	9279538	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0321510436101145	0.272
18	9279537	T	A	18	9279539	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0327729764917642	0.294
18	9279537	T	C	18	9279539	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00201625252639017	0.072
18	9279537	T	G	18	9279539	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0111824662800357	0.182
18	9279538	C	A	18	9279540	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	4.44972370144768E-4	0.032
18	9279538	C	G	18	9279540	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.28241643579864E-4	0.046
18	9279538	C	T	18	9279540	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.09897545018142E-4	0.018
18	9279539	T	A	18	9279541	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.33731886306248E-4	0.026
18	9279539	T	C	18	9279541	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.08947084804815E-5	0.0
18	9279539	T	G	18	9279541	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.40741993872544E-4	0.01
18	9279540	C	A	18	9279542	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.74910255665416E-4	0.042
18	9279540	C	G	18	9279542	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.01890683653071E-4	0.044
18	9279540	C	T	18	9279542	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.98930546529868E-5	0.0
18	9279541	T	A	18	9279543	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.344804034123461	0.5
18	9279541	T	C	18	9279543	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0215688083347185	0.23
18	9279541	T	G	18	9279543	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.212062510189339	0.444
18	9279542	T	A	18	9279544	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.903195612099427	0.708
18	9279542	T	C	18	9279544	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.433998542370876	0.564
18	9279542	T	G	18	9279544	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.904569000235041	0.648
18	9279543	T	A	18	9279545	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0414015940738153	0.096
18	9279543	T	C	18	9279545	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00880419777768951	0.046
18	9279543	T	G	18	9279545	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0351439168189502	0.102
18	9279544	T	A	18	9279546	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0675662584862373	0.286
18	9279544	T	C	18	9279546	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	6.01292471714689E-5	0.004
18	9279544	T	G	18	9279546	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998509048691531	0.74
18	9279545	A	C	18	9279547	y	y	splicing	ANKRD12(NM_015208:exon12:c.5908-2A>C;NM_001083625:exon11:c.5839-2A>C;NM_001204056:exon11:c.5839-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5839-2A>C;ENST00000262126:exon12:c.5908-2A>C;ENST00000400020:exon11:c.5839-2A>C)	.	.	0.999988247793601	0.93
18	9279545	A	G	18	9279547	y	y	splicing	ANKRD12(NM_015208:exon12:c.5908-2A>G;NM_001083625:exon11:c.5839-2A>G;NM_001204056:exon11:c.5839-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5839-2A>G;ENST00000262126:exon12:c.5908-2A>G;ENST00000400020:exon11:c.5839-2A>G)	.	.	0.999988247793601	0.93
18	9279545	A	T	18	9279547	y	y	splicing	ANKRD12(NM_015208:exon12:c.5908-2A>T;NM_001083625:exon11:c.5839-2A>T;NM_001204056:exon11:c.5839-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5839-2A>T;ENST00000262126:exon12:c.5908-2A>T;ENST00000400020:exon11:c.5839-2A>T)	.	.	0.999988247793601	0.93
18	9279546	G	A	18	9279548	y	y	splicing	ANKRD12(NM_015208:exon12:c.5908-1G>A;NM_001083625:exon11:c.5839-1G>A;NM_001204056:exon11:c.5839-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5839-1G>A;ENST00000262126:exon12:c.5908-1G>A;ENST00000400020:exon11:c.5839-1G>A)	.	.	0.999989072007339	0.934
18	9279546	G	C	18	9279548	y	y	splicing	ANKRD12(NM_015208:exon12:c.5908-1G>C;NM_001083625:exon11:c.5839-1G>C;NM_001204056:exon11:c.5839-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5839-1G>C;ENST00000262126:exon12:c.5908-1G>C;ENST00000400020:exon11:c.5839-1G>C)	.	.	0.999989072007339	0.934
18	9279546	G	T	18	9279548	y	y	splicing	ANKRD12(NM_015208:exon12:c.5908-1G>T;NM_001083625:exon11:c.5839-1G>T;NM_001204056:exon11:c.5839-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5839-1G>T;ENST00000262126:exon12:c.5908-1G>T;ENST00000400020:exon11:c.5839-1G>T)	.	.	0.999989072007339	0.934
18	9279547	T	A	18	9279549	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.T5908A:p.S1970T;ANKRD12:NM_001083625:exon11:c.T5839A:p.S1947T;ANKRD12:NM_001204056:exon11:c.T5839A:p.S1947T;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.T5839A:p.S1947T;ENSG00000101745:ENST00000262126:exon12:c.T5908A:p.S1970T;ENSG00000101745:ENST00000400020:exon11:c.T5839A:p.S1947T;	0.00215755214354582	0.01
18	9279547	T	C	18	9279549	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.T5908C:p.S1970P;ANKRD12:NM_001083625:exon11:c.T5839C:p.S1947P;ANKRD12:NM_001204056:exon11:c.T5839C:p.S1947P;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.T5839C:p.S1947P;ENSG00000101745:ENST00000262126:exon12:c.T5908C:p.S1970P;ENSG00000101745:ENST00000400020:exon11:c.T5839C:p.S1947P;	0.64640218474987	0.444
18	9279547	T	G	18	9279549	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.T5908G:p.S1970A;ANKRD12:NM_001083625:exon11:c.T5839G:p.S1947A;ANKRD12:NM_001204056:exon11:c.T5839G:p.S1947A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.T5839G:p.S1947A;ENSG00000101745:ENST00000262126:exon12:c.T5908G:p.S1970A;ENSG00000101745:ENST00000400020:exon11:c.T5839G:p.S1947A;	0.00404637090755041	0.05
18	9279548	C	A	18	9279550	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.C5909A:p.S1970Y;ANKRD12:NM_001083625:exon11:c.C5840A:p.S1947Y;ANKRD12:NM_001204056:exon11:c.C5840A:p.S1947Y;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.C5840A:p.S1947Y;ENSG00000101745:ENST00000262126:exon12:c.C5909A:p.S1970Y;ENSG00000101745:ENST00000400020:exon11:c.C5840A:p.S1947Y;	0.992474646220614	0.754
18	9279548	C	G	18	9279550	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.C5909G:p.S1970C;ANKRD12:NM_001083625:exon11:c.C5840G:p.S1947C;ANKRD12:NM_001204056:exon11:c.C5840G:p.S1947C;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.C5840G:p.S1947C;ENSG00000101745:ENST00000262126:exon12:c.C5909G:p.S1970C;ENSG00000101745:ENST00000400020:exon11:c.C5840G:p.S1947C;	0.98380353990503	0.676
18	9279548	C	T	18	9279550	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.C5909T:p.S1970F;ANKRD12:NM_001083625:exon11:c.C5840T:p.S1947F;ANKRD12:NM_001204056:exon11:c.C5840T:p.S1947F;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.C5840T:p.S1947F;ENSG00000101745:ENST00000262126:exon12:c.C5909T:p.S1970F;ENSG00000101745:ENST00000400020:exon11:c.C5840T:p.S1947F;	0.966359409433518	0.788
18	9279640	A	C	18	9279642	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.A6001C:p.K2001Q;ANKRD12:NM_001083625:exon11:c.A5932C:p.K1978Q;ANKRD12:NM_001204056:exon11:c.A5932C:p.K1978Q;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.A5932C:p.K1978Q;ENSG00000101745:ENST00000262126:exon12:c.A6001C:p.K2001Q;ENSG00000101745:ENST00000400020:exon11:c.A5932C:p.K1978Q;	0.84007843456749	0.57
18	9279640	A	G	18	9279642	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.A6001G:p.K2001E;ANKRD12:NM_001083625:exon11:c.A5932G:p.K1978E;ANKRD12:NM_001204056:exon11:c.A5932G:p.K1978E;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.A5932G:p.K1978E;ENSG00000101745:ENST00000262126:exon12:c.A6001G:p.K2001E;ENSG00000101745:ENST00000400020:exon11:c.A5932G:p.K1978E;	0.574428926436331	0.44
18	9279640	A	T	18	9279642	y	y	exonic	ANKRD12	stopgain SNV	ANKRD12:NM_015208:exon12:c.A6001T:p.K2001X;ANKRD12:NM_001083625:exon11:c.A5932T:p.K1978X;ANKRD12:NM_001204056:exon11:c.A5932T:p.K1978X;	exonic	ENSG00000101745	stopgain SNV	ENSG00000101745:ENST00000383440:exon11:c.A5932T:p.K1978X;ENSG00000101745:ENST00000262126:exon12:c.A6001T:p.K2001X;ENSG00000101745:ENST00000400020:exon11:c.A5932T:p.K1978X;	0.957594909780424	0.678
18	9279641	A	C	18	9279643	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.A6002C:p.K2001T;ANKRD12:NM_001083625:exon11:c.A5933C:p.K1978T;ANKRD12:NM_001204056:exon11:c.A5933C:p.K1978T;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.A5933C:p.K1978T;ENSG00000101745:ENST00000262126:exon12:c.A6002C:p.K2001T;ENSG00000101745:ENST00000400020:exon11:c.A5933C:p.K1978T;	0.990755231552787	0.872
18	9279641	A	G	18	9279643	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.A6002G:p.K2001R;ANKRD12:NM_001083625:exon11:c.A5933G:p.K1978R;ANKRD12:NM_001204056:exon11:c.A5933G:p.K1978R;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.A5933G:p.K1978R;ENSG00000101745:ENST00000262126:exon12:c.A6002G:p.K2001R;ENSG00000101745:ENST00000400020:exon11:c.A5933G:p.K1978R;	0.995831929806845	0.918
18	9279641	A	T	18	9279643	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.A6002T:p.K2001M;ANKRD12:NM_001083625:exon11:c.A5933T:p.K1978M;ANKRD12:NM_001204056:exon11:c.A5933T:p.K1978M;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.A5933T:p.K1978M;ENSG00000101745:ENST00000262126:exon12:c.A6002T:p.K2001M;ENSG00000101745:ENST00000400020:exon11:c.A5933T:p.K1978M;	0.989700842276799	0.836
18	9279642	G	A	18	9279644	y	y	exonic	ANKRD12	synonymous SNV	ANKRD12:NM_015208:exon12:c.G6003A:p.K2001K;ANKRD12:NM_001083625:exon11:c.G5934A:p.K1978K;ANKRD12:NM_001204056:exon11:c.G5934A:p.K1978K;	exonic	ENSG00000101745	synonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.G5934A:p.K1978K;ENSG00000101745:ENST00000262126:exon12:c.G6003A:p.K2001K;ENSG00000101745:ENST00000400020:exon11:c.G5934A:p.K1978K;	0.999106266384389	0.788
18	9279642	G	C	18	9279644	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.G6003C:p.K2001N;ANKRD12:NM_001083625:exon11:c.G5934C:p.K1978N;ANKRD12:NM_001204056:exon11:c.G5934C:p.K1978N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.G5934C:p.K1978N;ENSG00000101745:ENST00000262126:exon12:c.G6003C:p.K2001N;ENSG00000101745:ENST00000400020:exon11:c.G5934C:p.K1978N;	0.99998168229822	0.982
18	9279642	G	T	18	9279644	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon12:c.G6003T:p.K2001N;ANKRD12:NM_001083625:exon11:c.G5934T:p.K1978N;ANKRD12:NM_001204056:exon11:c.G5934T:p.K1978N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon11:c.G5934T:p.K1978N;ENSG00000101745:ENST00000262126:exon12:c.G6003T:p.K2001N;ENSG00000101745:ENST00000400020:exon11:c.G5934T:p.K1978N;	0.999915796715405	0.968
18	9279643	G	A	18	9279645	y	y	splicing	ANKRD12(NM_015208:exon12:c.6003+1G>A;NM_001083625:exon11:c.5934+1G>A;NM_001204056:exon11:c.5934+1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5934+1G>A;ENST00000262126:exon12:c.6003+1G>A;ENST00000400020:exon11:c.5934+1G>A)	.	.	0.999989072007339	0.934
18	9279643	G	C	18	9279645	y	y	splicing	ANKRD12(NM_015208:exon12:c.6003+1G>C;NM_001083625:exon11:c.5934+1G>C;NM_001204056:exon11:c.5934+1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5934+1G>C;ENST00000262126:exon12:c.6003+1G>C;ENST00000400020:exon11:c.5934+1G>C)	.	.	0.999989072007339	0.934
18	9279643	G	T	18	9279645	y	y	splicing	ANKRD12(NM_015208:exon12:c.6003+1G>T;NM_001083625:exon11:c.5934+1G>T;NM_001204056:exon11:c.5934+1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5934+1G>T;ENST00000262126:exon12:c.6003+1G>T;ENST00000400020:exon11:c.5934+1G>T)	.	.	0.999989072007339	0.934
18	9279644	T	A	18	9279646	y	y	splicing	ANKRD12(NM_015208:exon12:c.6003+2T>A;NM_001083625:exon11:c.5934+2T>A;NM_001204056:exon11:c.5934+2T>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5934+2T>A;ENST00000262126:exon12:c.6003+2T>A;ENST00000400020:exon11:c.5934+2T>A)	.	.	0.999988247793601	0.932
18	9279644	T	C	18	9279646	y	y	splicing	ANKRD12(NM_015208:exon12:c.6003+2T>C;NM_001083625:exon11:c.5934+2T>C;NM_001204056:exon11:c.5934+2T>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5934+2T>C;ENST00000262126:exon12:c.6003+2T>C;ENST00000400020:exon11:c.5934+2T>C)	.	.	0.99416530160294	0.696
18	9279644	T	G	18	9279646	y	y	splicing	ANKRD12(NM_015208:exon12:c.6003+2T>G;NM_001083625:exon11:c.5934+2T>G;NM_001204056:exon11:c.5934+2T>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon11:c.5934+2T>G;ENST00000262126:exon12:c.6003+2T>G;ENST00000400020:exon11:c.5934+2T>G)	.	.	0.999988247793601	0.932
18	9279645	A	C	18	9279647	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.993539917855251	0.794
18	9279645	A	G	18	9279647	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.427011927078995	0.686
18	9279645	A	T	18	9279647	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.953431326263388	0.558
18	9279646	T	A	18	9279648	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	5.4710990003254E-5	0.052
18	9279646	T	C	18	9279648	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	8.65029359934155E-5	0.034
18	9279646	T	G	18	9279648	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	6.1160091327244E-5	0.038
18	9279647	G	A	18	9279649	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998282111350002	0.688
18	9279647	G	C	18	9279649	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.997851971587342	0.73
18	9279647	G	T	18	9279649	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.996863930657205	0.676
18	9279648	T	A	18	9279650	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.971083484428959	0.616
18	9279648	T	C	18	9279650	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.977208262594289	0.492
18	9279648	T	G	18	9279650	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.97087347145854	0.458
18	9279649	A	C	18	9279651	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00133414964176908	0.0
18	9279649	A	G	18	9279651	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00133414964176908	0.004
18	9279649	A	T	18	9279651	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00109808977295406	0.006
18	9279650	T	A	18	9279652	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00127758885616052	0.026
18	9279650	T	C	18	9279652	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	8.73678945504634E-4	0.08
18	9279650	T	G	18	9279652	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	8.73678945504634E-4	0.056
18	9280927	T	A	18	9280929	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.999311769201925	0.934
18	9280927	T	C	18	9280929	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.205788307336834	0.452
18	9280927	T	G	18	9280929	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.997872128322491	0.76
18	9280928	C	A	18	9280930	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.943613141055998	0.678
18	9280928	C	G	18	9280930	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.88722295849317	0.658
18	9280928	C	T	18	9280930	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.919229999635787	0.752
18	9280929	T	A	18	9280931	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.994425093465115	0.776
18	9280929	T	C	18	9280931	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	8.3749162161099E-4	0.098
18	9280929	T	G	18	9280931	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.72531384965174	0.538
18	9280930	T	A	18	9280932	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.901751109520373	0.586
18	9280930	T	C	18	9280932	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	5.21628538901543E-5	0.08
18	9280930	T	G	18	9280932	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.788298442127365	0.558
18	9280931	T	A	18	9280933	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.109131428317479	0.344
18	9280931	T	C	18	9280933	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.99270886060852E-4	0.0
18	9280931	T	G	18	9280933	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.0996257193071115	0.332
18	9280932	T	A	18	9280934	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.21639304025592	0.344
18	9280932	T	C	18	9280934	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.08455347889058E-4	0.004
18	9280932	T	G	18	9280934	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.101381699497638	0.316
18	9280933	A	C	18	9280935	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	1.34751391290899E-4	0.068
18	9280933	A	G	18	9280935	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00105998692212805	0.092
18	9280933	A	T	18	9280935	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	3.07747370193461E-5	0.046
18	9280934	A	C	18	9280936	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.20570806880732E-4	0.0
18	9280934	A	G	18	9280936	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.998255485447725	0.968
18	9280934	A	T	18	9280936	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.10064279262798E-4	0.112
18	9280935	A	C	18	9280937	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	8.66341811482284E-4	0.012
18	9280935	A	G	18	9280937	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.995422595936056	0.838
18	9280935	A	T	18	9280937	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.00510377586991761	0.092
18	9280936	T	A	18	9280938	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.040437832937529	0.266
18	9280936	T	C	18	9280938	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	2.83238767682356E-5	0.0
18	9280936	T	G	18	9280938	y	y	intronic	ANKRD12	.	.	intronic	ENSG00000101745	.	.	0.986462690191772	0.692
18	9280937	A	C	18	9280939	y	y	splicing	ANKRD12(NM_015208:exon13:c.6004-2A>C;NM_001083625:exon12:c.5935-2A>C;NM_001204056:exon12:c.5935-2A>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon12:c.5935-2A>C;ENST00000262126:exon13:c.6004-2A>C;ENST00000400020:exon12:c.5935-2A>C)	.	.	0.999989917668626	0.926
18	9280937	A	G	18	9280939	y	y	splicing	ANKRD12(NM_015208:exon13:c.6004-2A>G;NM_001083625:exon12:c.5935-2A>G;NM_001204056:exon12:c.5935-2A>G)	.	.	splicing	ENSG00000101745(ENST00000383440:exon12:c.5935-2A>G;ENST00000262126:exon13:c.6004-2A>G;ENST00000400020:exon12:c.5935-2A>G)	.	.	0.999989917668626	0.926
18	9280937	A	T	18	9280939	y	y	splicing	ANKRD12(NM_015208:exon13:c.6004-2A>T;NM_001083625:exon12:c.5935-2A>T;NM_001204056:exon12:c.5935-2A>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon12:c.5935-2A>T;ENST00000262126:exon13:c.6004-2A>T;ENST00000400020:exon12:c.5935-2A>T)	.	.	0.999989917668626	0.926
18	9280938	G	A	18	9280940	y	y	splicing	ANKRD12(NM_015208:exon13:c.6004-1G>A;NM_001083625:exon12:c.5935-1G>A;NM_001204056:exon12:c.5935-1G>A)	.	.	splicing	ENSG00000101745(ENST00000383440:exon12:c.5935-1G>A;ENST00000262126:exon13:c.6004-1G>A;ENST00000400020:exon12:c.5935-1G>A)	.	.	0.999986675681007	0.932
18	9280938	G	C	18	9280940	y	y	splicing	ANKRD12(NM_015208:exon13:c.6004-1G>C;NM_001083625:exon12:c.5935-1G>C;NM_001204056:exon12:c.5935-1G>C)	.	.	splicing	ENSG00000101745(ENST00000383440:exon12:c.5935-1G>C;ENST00000262126:exon13:c.6004-1G>C;ENST00000400020:exon12:c.5935-1G>C)	.	.	0.999986675681007	0.932
18	9280938	G	T	18	9280940	y	y	splicing	ANKRD12(NM_015208:exon13:c.6004-1G>T;NM_001083625:exon12:c.5935-1G>T;NM_001204056:exon12:c.5935-1G>T)	.	.	splicing	ENSG00000101745(ENST00000383440:exon12:c.5935-1G>T;ENST00000262126:exon13:c.6004-1G>T;ENST00000400020:exon12:c.5935-1G>T)	.	.	0.999986675681007	0.932
18	9280939	A	C	18	9280941	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon13:c.A6004C:p.T2002P;ANKRD12:NM_001083625:exon12:c.A5935C:p.T1979P;ANKRD12:NM_001204056:exon12:c.A5935C:p.T1979P;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon12:c.A5935C:p.T1979P;ENSG00000101745:ENST00000262126:exon13:c.A6004C:p.T2002P;ENSG00000101745:ENST00000400020:exon12:c.A5935C:p.T1979P;	0.222201460589792	0.548
18	9280939	A	G	18	9280941	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon13:c.A6004G:p.T2002A;ANKRD12:NM_001083625:exon12:c.A5935G:p.T1979A;ANKRD12:NM_001204056:exon12:c.A5935G:p.T1979A;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon12:c.A5935G:p.T1979A;ENSG00000101745:ENST00000262126:exon13:c.A6004G:p.T2002A;ENSG00000101745:ENST00000400020:exon12:c.A5935G:p.T1979A;	0.21039685596895	0.402
18	9280939	A	T	18	9280941	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon13:c.A6004T:p.T2002S;ANKRD12:NM_001083625:exon12:c.A5935T:p.T1979S;ANKRD12:NM_001204056:exon12:c.A5935T:p.T1979S;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon12:c.A5935T:p.T1979S;ENSG00000101745:ENST00000262126:exon13:c.A6004T:p.T2002S;ENSG00000101745:ENST00000400020:exon12:c.A5935T:p.T1979S;	0.218296722276794	0.34
18	9280940	C	A	18	9280942	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon13:c.C6005A:p.T2002N;ANKRD12:NM_001083625:exon12:c.C5936A:p.T1979N;ANKRD12:NM_001204056:exon12:c.C5936A:p.T1979N;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon12:c.C5936A:p.T1979N;ENSG00000101745:ENST00000262126:exon13:c.C6005A:p.T2002N;ENSG00000101745:ENST00000400020:exon12:c.C5936A:p.T1979N;	0.983235929462383	0.748
18	9280940	C	G	18	9280942	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon13:c.C6005G:p.T2002S;ANKRD12:NM_001083625:exon12:c.C5936G:p.T1979S;ANKRD12:NM_001204056:exon12:c.C5936G:p.T1979S;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon12:c.C5936G:p.T1979S;ENSG00000101745:ENST00000262126:exon13:c.C6005G:p.T2002S;ENSG00000101745:ENST00000400020:exon12:c.C5936G:p.T1979S;	0.801844524193819	0.494
18	9280940	C	T	18	9280942	y	y	exonic	ANKRD12	nonsynonymous SNV	ANKRD12:NM_015208:exon13:c.C6005T:p.T2002I;ANKRD12:NM_001083625:exon12:c.C5936T:p.T1979I;ANKRD12:NM_001204056:exon12:c.C5936T:p.T1979I;	exonic	ENSG00000101745	nonsynonymous SNV	ENSG00000101745:ENST00000383440:exon12:c.C5936T:p.T1979I;ENSG00000101745:ENST00000262126:exon13:c.C6005T:p.T2002I;ENSG00000101745:ENST00000400020:exon12:c.C5936T:p.T1979I;	0.97820471833947	0.858
18	9334916	A	C	18	9334918	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	1.16828857953173E-4	0.002
18	9334916	A	G	18	9334918	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	4.48797600051991E-4	0.04
18	9334916	A	T	18	9334918	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	6.76157657498497E-4	0.118
18	9334917	T	A	18	9334919	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	4.08381150277207E-5	0.152
18	9334917	T	C	18	9334919	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	5.88192746740302E-5	0.102
18	9334917	T	G	18	9334919	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	1.71086006256296E-4	0.12
18	9334918	G	A	18	9334920	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	0.996457860946324	0.9
18	9334918	G	C	18	9334920	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	0.995802737666715	0.61
18	9334918	G	T	18	9334920	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	0.986772915524035	0.776
18	9334919	G	A	18	9334921	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999932560434043	0.824
18	9334919	G	C	18	9334921	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999932560434043	0.794
18	9334919	G	T	18	9334921	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999932560434043	0.8
18	9334920	T	A	18	9334922	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999932560434043	0.848
18	9334920	T	C	18	9334922	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999636460560173	0.804
18	9334920	T	G	18	9334922	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999932560434043	0.808
18	9334921	G	A	18	9334923	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.71705797098904E-5	0.088
18	9334921	G	C	18	9334923	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0396931724374601	0.246
18	9334921	G	T	18	9334923	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00742934287033106	0.19
18	9334922	A	C	18	9334924	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.780092128317135	0.476
18	9334922	A	G	18	9334924	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.987352354461002	0.706
18	9334922	A	T	18	9334924	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.995393724633868	0.672
18	9334923	G	A	18	9334925	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.998401173286392	0.882
18	9334923	G	C	18	9334925	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999341411090452	0.938
18	9334923	G	T	18	9334925	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.998757052966855	0.908
18	9334924	T	A	18	9334926	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.016413557260665	0.158
18	9334924	T	C	18	9334926	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00499140418232053	0.088
18	9334924	T	G	18	9334926	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0076026938164875	0.078
18	9334925	G	A	18	9334927	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00277318459011811	0.006
18	9334925	G	C	18	9334927	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00165190207378047	0.004
18	9334925	G	T	18	9334927	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.24952120820392E-4	0.0
18	9334926	G	A	18	9334928	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.14013020580997E-5	0.0
18	9334926	G	C	18	9334928	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.27197574973699E-4	0.0
18	9334926	G	T	18	9334928	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.27197574973699E-4	0.002
18	9337179	T	A	18	9337181	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.79784924095656	0.476
18	9337179	T	C	18	9337181	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.49709453871892E-4	0.17
18	9337179	T	G	18	9337181	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.806313032828767	0.432
18	9337180	T	A	18	9337182	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999987169838434	0.988
18	9337180	T	C	18	9337182	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.988243620879775	0.6
18	9337180	T	G	18	9337182	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999815913317951	0.944
18	9337181	G	A	18	9337183	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.140571683344677	0.3
18	9337181	G	C	18	9337183	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0118258022311267	0.246
18	9337181	G	T	18	9337183	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0145222933432894	0.296
18	9337182	T	A	18	9337184	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.749814970250271	0.522
18	9337182	T	C	18	9337184	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	7.49539004673165E-4	0.088
18	9337182	T	G	18	9337184	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.949238711030605	0.652
18	9337183	T	A	18	9337185	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0430017422580287	0.234
18	9337183	T	C	18	9337185	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.9365192297046E-5	0.002
18	9337183	T	G	18	9337185	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00523924576949265	0.258
18	9337184	T	A	18	9337186	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999923304992629	0.988
18	9337184	T	C	18	9337186	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00162395001287082	0.048
18	9337184	T	G	18	9337186	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.928995984208522	0.56
18	9337185	G	A	18	9337187	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.33931606953266E-4	0.01
18	9337185	G	C	18	9337187	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.2762215157198E-4	0.006
18	9337185	G	T	18	9337187	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.51640691105941E-4	0.04
18	9337186	T	A	18	9337188	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.776969600785937	0.73
18	9337186	T	C	18	9337188	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0458858509863894	0.19
18	9337186	T	G	18	9337188	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.962477599126751	0.742
18	9337187	T	A	18	9337189	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.785075376063E-4	0.052
18	9337187	T	C	18	9337189	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.20150558882128E-4	0.03
18	9337187	T	G	18	9337189	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00212620821950328	0.026
18	9337188	T	A	18	9337190	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0767432288884928	0.386
18	9337188	T	C	18	9337190	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.86307110753387E-5	0.01
18	9337188	T	G	18	9337190	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999143907781641	0.784
18	9337189	A	C	18	9337191	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999988247793601	0.928
18	9337189	A	G	18	9337191	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999988247793601	0.928
18	9337189	A	T	18	9337191	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999988247793601	0.928
18	9337190	G	A	18	9337192	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999990361384395	0.936
18	9337190	G	C	18	9337192	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999990361384395	0.936
18	9337190	G	T	18	9337192	y	y	splicing	TWSG1	.	.	splicing	ENSG00000128791	.	.	0.999990361384395	0.936
18	9337191	T	A	18	9337193	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	1.85579721812083E-4	0.01
18	9337191	T	C	18	9337193	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	1.96345711662298E-4	0.008
18	9337191	T	G	18	9337193	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	3.63625476308783E-4	0.056
18	9337192	T	A	18	9337194	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	0.727243889303425	0.368
18	9337192	T	C	18	9337194	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	0.663468612002285	0.314
18	9337192	T	G	18	9337194	y	y	UTR5	TWSG1	.	.	UTR5	ENSG00000128791	.	.	0.712202283150751	0.292
18	9337348	C	A	18	9337350	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon2:c.C121A:p.Q41K;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon2:c.C121A:p.Q41K;ENSG00000128791:ENST00000581641:exon2:c.C121A:p.Q41K;ENSG00000128791:ENST00000262120:exon2:c.C121A:p.Q41K;	0.0186020235181648	0.154
18	9337348	C	G	18	9337350	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon2:c.C121G:p.Q41E;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon2:c.C121G:p.Q41E;ENSG00000128791:ENST00000581641:exon2:c.C121G:p.Q41E;ENSG00000128791:ENST00000262120:exon2:c.C121G:p.Q41E;	0.972094597513793	0.64
18	9337348	C	T	18	9337350	y	y	exonic	TWSG1	stopgain SNV	TWSG1:NM_020648:exon2:c.C121T:p.Q41X;	exonic	ENSG00000128791	stopgain SNV	ENSG00000128791:ENST00000583147:exon2:c.C121T:p.Q41X;ENSG00000128791:ENST00000581641:exon2:c.C121T:p.Q41X;ENSG00000128791:ENST00000262120:exon2:c.C121T:p.Q41X;	0.999540504540815	0.948
18	9337349	A	C	18	9337351	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon2:c.A122C:p.Q41P;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon2:c.A122C:p.Q41P;ENSG00000128791:ENST00000581641:exon2:c.A122C:p.Q41P;ENSG00000128791:ENST00000262120:exon2:c.A122C:p.Q41P;	0.991047686296665	0.806
18	9337349	A	G	18	9337351	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon2:c.A122G:p.Q41R;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon2:c.A122G:p.Q41R;ENSG00000128791:ENST00000581641:exon2:c.A122G:p.Q41R;ENSG00000128791:ENST00000262120:exon2:c.A122G:p.Q41R;	0.866180794177129	0.758
18	9337349	A	T	18	9337351	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon2:c.A122T:p.Q41L;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon2:c.A122T:p.Q41L;ENSG00000128791:ENST00000581641:exon2:c.A122T:p.Q41L;ENSG00000128791:ENST00000262120:exon2:c.A122T:p.Q41L;	0.979104445309324	0.814
18	9337350	G	A	18	9337352	y	y	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon2:c.G123A:p.Q41Q;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000583147:exon2:c.G123A:p.Q41Q;ENSG00000128791:ENST00000581641:exon2:c.G123A:p.Q41Q;ENSG00000128791:ENST00000262120:exon2:c.G123A:p.Q41Q;	0.99993016294305	0.996
18	9337350	G	C	18	9337352	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon2:c.G123C:p.Q41H;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon2:c.G123C:p.Q41H;ENSG00000128791:ENST00000581641:exon2:c.G123C:p.Q41H;ENSG00000128791:ENST00000262120:exon2:c.G123C:p.Q41H;	0.999997897796025	0.994
18	9337350	G	T	18	9337352	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon2:c.G123T:p.Q41H;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon2:c.G123T:p.Q41H;ENSG00000128791:ENST00000581641:exon2:c.G123T:p.Q41H;ENSG00000128791:ENST00000262120:exon2:c.G123T:p.Q41H;	0.999993115420539	0.998
18	9337351	G	A	18	9337353	y	y	splicing	TWSG1(NM_020648:exon2:c.123+1G>A)	.	.	splicing	ENSG00000128791(ENST00000262120:exon2:c.123+1G>A;ENST00000583147:exon2:c.123+1G>A;ENST00000581641:exon2:c.123+1G>A)	.	.	0.999990361384395	0.938
18	9337351	G	C	18	9337353	y	y	splicing	TWSG1(NM_020648:exon2:c.123+1G>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon2:c.123+1G>C;ENST00000583147:exon2:c.123+1G>C;ENST00000581641:exon2:c.123+1G>C)	.	.	0.999990361384395	0.936
18	9337351	G	T	18	9337353	y	y	splicing	TWSG1(NM_020648:exon2:c.123+1G>T)	.	.	splicing	ENSG00000128791(ENST00000262120:exon2:c.123+1G>T;ENST00000583147:exon2:c.123+1G>T;ENST00000581641:exon2:c.123+1G>T)	.	.	0.999990361384395	0.938
18	9337352	T	A	18	9337354	y	y	splicing	TWSG1(NM_020648:exon2:c.123+2T>A)	.	.	splicing	ENSG00000128791(ENST00000262120:exon2:c.123+2T>A;ENST00000583147:exon2:c.123+2T>A;ENST00000581641:exon2:c.123+2T>A)	.	.	0.999988247793601	0.928
18	9337352	T	C	18	9337354	y	y	splicing	TWSG1(NM_020648:exon2:c.123+2T>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon2:c.123+2T>C;ENST00000583147:exon2:c.123+2T>C;ENST00000581641:exon2:c.123+2T>C)	.	.	0.98918007292081	0.666
18	9337352	T	G	18	9337354	y	y	splicing	TWSG1(NM_020648:exon2:c.123+2T>G)	.	.	splicing	ENSG00000128791(ENST00000262120:exon2:c.123+2T>G;ENST00000583147:exon2:c.123+2T>G;ENST00000581641:exon2:c.123+2T>G)	.	.	0.999988247793601	0.928
18	9337353	A	C	18	9337355	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.992739696463211	0.72
18	9337353	A	G	18	9337355	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.28441487729105	0.568
18	9337353	A	T	18	9337355	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.996052082635967	0.814
18	9337354	G	A	18	9337356	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.96560923650632E-4	0.05
18	9337354	G	C	18	9337356	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.29475534278034E-4	0.052
18	9337354	G	T	18	9337356	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.52452011557984E-4	0.03
18	9337355	G	A	18	9337357	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.995527208260767	0.692
18	9337355	G	C	18	9337357	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999416550318756	0.838
18	9337355	G	T	18	9337357	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999896048096296	0.81
18	9337356	A	C	18	9337358	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.50037669216039E-4	0.028
18	9337356	A	G	18	9337358	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.04903591791675E-4	0.008
18	9337356	A	T	18	9337358	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.55434155615262E-5	0.012
18	9337357	C	A	18	9337359	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.80829453502829E-4	0.01
18	9337357	C	G	18	9337359	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.88209962958413E-4	0.032
18	9337357	C	T	18	9337359	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.26695106419255E-4	0.016
18	9337358	T	A	18	9337360	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.2632770283394E-4	0.0
18	9337358	T	C	18	9337360	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	9.7817727331026E-5	0.006
18	9337358	T	G	18	9337360	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.12461457638122E-5	0.004
18	9359958	T	A	18	9359960	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00727265572075488	0.104
18	9359958	T	C	18	9359960	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	7.71194981234141E-5	0.0
18	9359958	T	G	18	9359960	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.006215947198693	0.126
18	9359959	C	A	18	9359961	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.29525147718285E-4	0.006
18	9359959	C	G	18	9359961	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	7.85693284544172E-5	0.004
18	9359959	C	T	18	9359961	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.43699542125911E-5	0.0
18	9359960	T	A	18	9359962	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00140810091281133	0.048
18	9359960	T	C	18	9359962	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.18930866902771E-5	0.0
18	9359960	T	G	18	9359962	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00146402055629445	0.088
18	9359961	T	A	18	9359963	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999066560737878	0.964
18	9359961	T	C	18	9359963	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.10526291915955E-5	0.004
18	9359961	T	G	18	9359963	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00103457234299241	0.07
18	9359962	G	A	18	9359964	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	7.8576180990458E-5	0.0
18	9359962	G	C	18	9359964	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.58278812938861E-5	0.002
18	9359962	G	T	18	9359964	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.50189971163244E-5	0.0
18	9359963	T	A	18	9359965	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00175773161790918	0.04
18	9359963	T	C	18	9359965	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.37284928883993E-5	0.002
18	9359963	T	G	18	9359965	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00105912275198429	0.048
18	9359964	T	A	18	9359966	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0300019414146896	0.312
18	9359964	T	C	18	9359966	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.22566958893355E-5	0.0
18	9359964	T	G	18	9359966	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0483520917493077	0.38
18	9359965	T	A	18	9359967	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.264763383289911	0.508
18	9359965	T	C	18	9359967	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00112464577097375	0.07
18	9359965	T	G	18	9359967	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.610397372986785	0.444
18	9359966	C	A	18	9359968	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.92874006223394E-5	0.008
18	9359966	C	G	18	9359968	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.04456583723714E-5	0.008
18	9359966	C	T	18	9359968	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.42319643877571E-5	0.004
18	9359967	T	A	18	9359969	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00787171350931589	0.188
18	9359967	T	C	18	9359969	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.84090806137342E-5	0.032
18	9359967	T	G	18	9359969	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.828436479338384	0.602
18	9359968	A	C	18	9359970	y	y	splicing	TWSG1(NM_020648:exon3:c.124-2A>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.124-2A>C;ENST00000583147:exon3:c.124-2A>C;ENST00000581641:exon3:c.124-2A>C)	.	.	0.999988247793601	0.93
18	9359968	A	G	18	9359970	y	y	splicing	TWSG1(NM_020648:exon3:c.124-2A>G)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.124-2A>G;ENST00000583147:exon3:c.124-2A>G;ENST00000581641:exon3:c.124-2A>G)	.	.	0.999988247793601	0.93
18	9359968	A	T	18	9359970	y	y	splicing	TWSG1(NM_020648:exon3:c.124-2A>T)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.124-2A>T;ENST00000583147:exon3:c.124-2A>T;ENST00000581641:exon3:c.124-2A>T)	.	.	0.999988247793601	0.93
18	9359969	G	A	18	9359971	y	y	splicing	TWSG1(NM_020648:exon3:c.124-1G>A)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.124-1G>A;ENST00000583147:exon3:c.124-1G>A;ENST00000581641:exon3:c.124-1G>A)	.	.	0.999990361384395	0.938
18	9359969	G	C	18	9359971	y	y	splicing	TWSG1(NM_020648:exon3:c.124-1G>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.124-1G>C;ENST00000583147:exon3:c.124-1G>C;ENST00000581641:exon3:c.124-1G>C)	.	.	0.999990361384395	0.938
18	9359969	G	T	18	9359971	y	y	splicing	TWSG1(NM_020648:exon3:c.124-1G>T)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.124-1G>T;ENST00000583147:exon3:c.124-1G>T;ENST00000581641:exon3:c.124-1G>T)	.	.	0.999990361384395	0.938
18	9359970	G	A	18	9359972	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.G124A:p.E42K;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.G124A:p.E42K;ENSG00000128791:ENST00000581641:exon3:c.G124A:p.E42K;ENSG00000128791:ENST00000262120:exon3:c.G124A:p.E42K;	0.996119594452147	0.936
18	9359970	G	C	18	9359972	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.G124C:p.E42Q;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.G124C:p.E42Q;ENSG00000128791:ENST00000581641:exon3:c.G124C:p.E42Q;ENSG00000128791:ENST00000262120:exon3:c.G124C:p.E42Q;	0.99983685290036	0.912
18	9359970	G	T	18	9359972	y	y	exonic	TWSG1	stopgain SNV	TWSG1:NM_020648:exon3:c.G124T:p.E42X;	exonic	ENSG00000128791	stopgain SNV	ENSG00000128791:ENST00000583147:exon3:c.G124T:p.E42X;ENSG00000128791:ENST00000581641:exon3:c.G124T:p.E42X;ENSG00000128791:ENST00000262120:exon3:c.G124T:p.E42X;	0.999884483258292	0.952
18	9359971	A	C	18	9359973	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.A125C:p.E42A;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.A125C:p.E42A;ENSG00000128791:ENST00000581641:exon3:c.A125C:p.E42A;ENSG00000128791:ENST00000262120:exon3:c.A125C:p.E42A;	0.923622719480822	0.828
18	9359971	A	G	18	9359973	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.A125G:p.E42G;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.A125G:p.E42G;ENSG00000128791:ENST00000581641:exon3:c.A125G:p.E42G;ENSG00000128791:ENST00000262120:exon3:c.A125G:p.E42G;	0.911775483076412	0.47
18	9359971	A	T	18	9359973	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.A125T:p.E42V;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.A125T:p.E42V;ENSG00000128791:ENST00000581641:exon3:c.A125T:p.E42V;ENSG00000128791:ENST00000262120:exon3:c.A125T:p.E42V;	0.854839429393098	0.792
18	9360067	T	A	18	9360069	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.T221A:p.V74D;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.T221A:p.V74D;ENSG00000128791:ENST00000581641:exon3:c.T221A:p.V74D;ENSG00000128791:ENST00000262120:exon3:c.T221A:p.V74D;	0.609178629229558	0.764
18	9360067	T	C	18	9360069	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.T221C:p.V74A;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.T221C:p.V74A;ENSG00000128791:ENST00000581641:exon3:c.T221C:p.V74A;ENSG00000128791:ENST00000262120:exon3:c.T221C:p.V74A;	0.596606236825237	0.704
18	9360067	T	G	18	9360069	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.T221G:p.V74G;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.T221G:p.V74G;ENSG00000128791:ENST00000581641:exon3:c.T221G:p.V74G;ENSG00000128791:ENST00000262120:exon3:c.T221G:p.V74G;	0.688562764112776	0.778
18	9360068	T	A	18	9360070	y	y	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon3:c.T222A:p.V74V;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.T222A:p.V74V;ENSG00000128791:ENST00000581641:exon3:c.T222A:p.V74V;ENSG00000128791:ENST00000262120:exon3:c.T222A:p.V74V;	4.3173031065236E-5	0.054
18	9360068	T	C	18	9360070	y	y	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon3:c.T222C:p.V74V;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.T222C:p.V74V;ENSG00000128791:ENST00000581641:exon3:c.T222C:p.V74V;ENSG00000128791:ENST00000262120:exon3:c.T222C:p.V74V;	2.59048608951481E-5	0.0
18	9360068	T	G	18	9360070	y	y	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon3:c.T222G:p.V74V;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.T222G:p.V74V;ENSG00000128791:ENST00000581641:exon3:c.T222G:p.V74V;ENSG00000128791:ENST00000262120:exon3:c.T222G:p.V74V;	6.37773567543417E-5	0.0
18	9360069	G	A	18	9360071	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.G223A:p.G75S;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.G223A:p.D75N;ENSG00000128791:ENST00000581641:exon3:c.G223A:p.G75S;ENSG00000128791:ENST00000262120:exon3:c.G223A:p.G75S;	0.999927934850673	0.978
18	9360069	G	C	18	9360071	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.G223C:p.G75R;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.G223C:p.D75H;ENSG00000128791:ENST00000581641:exon3:c.G223C:p.G75R;ENSG00000128791:ENST00000262120:exon3:c.G223C:p.G75R;	0.99982702129049	0.966
18	9360069	G	T	18	9360071	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon3:c.G223T:p.G75C;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon3:c.G223T:p.D75Y;ENSG00000128791:ENST00000581641:exon3:c.G223T:p.G75C;ENSG00000128791:ENST00000262120:exon3:c.G223T:p.G75C;	0.999913306886759	0.76
18	9360070	G	A	18	9360072	y	y	splicing	TWSG1(NM_020648:exon3:c.223+1G>A)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.223+1G>A;ENST00000583147:exon3:c.223+1G>A;ENST00000581641:exon3:c.223+1G>A)	.	.	0.999990361384395	0.938
18	9360070	G	C	18	9360072	y	y	splicing	TWSG1(NM_020648:exon3:c.223+1G>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.223+1G>C;ENST00000583147:exon3:c.223+1G>C;ENST00000581641:exon3:c.223+1G>C)	.	.	0.999990361384395	0.938
18	9360070	G	T	18	9360072	y	y	splicing	TWSG1(NM_020648:exon3:c.223+1G>T)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.223+1G>T;ENST00000583147:exon3:c.223+1G>T;ENST00000581641:exon3:c.223+1G>T)	.	.	0.999990361384395	0.938
18	9360071	T	A	18	9360073	y	y	splicing	TWSG1(NM_020648:exon3:c.223+2T>A)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.223+2T>A;ENST00000583147:exon3:c.223+2T>A;ENST00000581641:exon3:c.223+2T>A)	.	.	0.999957916644774	0.898
18	9360071	T	C	18	9360073	y	y	splicing	TWSG1(NM_020648:exon3:c.223+2T>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.223+2T>C;ENST00000583147:exon3:c.223+2T>C;ENST00000581641:exon3:c.223+2T>C)	.	.	0.965065094695232	0.538
18	9360071	T	G	18	9360073	y	y	splicing	TWSG1(NM_020648:exon3:c.223+2T>G)	.	.	splicing	ENSG00000128791(ENST00000262120:exon3:c.223+2T>G;ENST00000583147:exon3:c.223+2T>G;ENST00000581641:exon3:c.223+2T>G)	.	.	0.999941403152179	0.898
18	9360072	A	C	18	9360074	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.974603414711238	0.852
18	9360072	A	G	18	9360074	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00595817860724929	0.234
18	9360072	A	T	18	9360074	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.978954252925044	0.822
18	9360073	A	C	18	9360075	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.451860585858898	0.444
18	9360073	A	G	18	9360075	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.665606822513708	0.492
18	9360073	A	T	18	9360075	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.905917709782786	0.642
18	9360074	G	A	18	9360076	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.998904208948669	0.974
18	9360074	G	C	18	9360076	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999293294909066	0.828
18	9360074	G	T	18	9360076	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999835651872311	0.924
18	9360075	T	A	18	9360077	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.529722771264924	0.428
18	9360075	T	C	18	9360077	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.608561292504268	0.482
18	9360075	T	G	18	9360077	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.114619770414355	0.344
18	9360076	T	A	18	9360078	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.56265189662437E-5	0.016
18	9360076	T	C	18	9360078	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.09284186438967E-5	0.016
18	9360076	T	G	18	9360078	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.09284186438967E-5	0.016
18	9360077	G	A	18	9360079	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.36005865492948E-4	0.0
18	9360077	G	C	18	9360079	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.36005865492948E-4	0.004
18	9360077	G	T	18	9360079	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.36005865492948E-4	0.0
18	9388026	T	A	18	9388028	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.0448865492497E-4	0.002
18	9388026	T	C	18	9388028	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.97988704700614E-5	0.002
18	9388026	T	G	18	9388028	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.97988704700614E-5	0.002
18	9388027	T	A	18	9388029	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	9.16400860477883E-5	0.002
18	9388027	T	C	18	9388029	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.3079806625321E-4	0.002
18	9388027	T	G	18	9388029	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.3079806625321E-4	0.002
18	9388028	T	A	18	9388030	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.2462222758788E-4	0.02
18	9388028	T	C	18	9388030	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.2462222758788E-4	0.022
18	9388028	T	G	18	9388030	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.2462222758788E-4	0.022
18	9388029	T	A	18	9388031	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.2462222758788E-4	0.02
18	9388029	T	C	18	9388031	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.2462222758788E-4	0.02
18	9388029	T	G	18	9388031	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.2462222758788E-4	0.02
18	9388030	T	A	18	9388032	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.3820400020461E-5	0.002
18	9388030	T	C	18	9388032	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.8607438459496E-5	0.002
18	9388030	T	G	18	9388032	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.8607438459496E-5	0.002
18	9388031	C	A	18	9388033	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.63360899965148E-5	0.0
18	9388031	C	G	18	9388033	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.52173701430229E-5	0.022
18	9388031	C	T	18	9388033	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.63360899965148E-5	0.0
18	9388032	A	C	18	9388034	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.05883123947856E-4	0.026
18	9388032	A	G	18	9388034	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.05883123947856E-4	0.026
18	9388032	A	T	18	9388034	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.12230989065397E-4	0.024
18	9388033	T	A	18	9388035	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.50378308532496E-5	0.002
18	9388033	T	C	18	9388035	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.3820400020461E-5	0.002
18	9388033	T	G	18	9388035	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.3820400020461E-5	0.002
18	9388034	C	A	18	9388036	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.54291542054858E-4	0.008
18	9388034	C	G	18	9388036	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.60081151915995E-4	0.014
18	9388034	C	T	18	9388036	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.54291542054858E-4	0.008
18	9388035	C	A	18	9388037	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.54291542054858E-4	0.008
18	9388035	C	G	18	9388037	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.60081151915995E-4	0.014
18	9388035	C	T	18	9388037	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.54291542054858E-4	0.008
18	9388036	A	C	18	9388038	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.224-2A>C)	.	.	8.97988704700614E-5	0.002
18	9388036	A	G	18	9388038	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.224-2A>G)	.	.	8.97988704700614E-5	0.002
18	9388036	A	T	18	9388038	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.224-2A>T)	.	.	8.97988704700614E-5	0.002
18	9388037	G	A	18	9388039	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.224-1G>A)	.	.	0.00223172515695393	0.004
18	9388037	G	C	18	9388039	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.224-1G>C)	.	.	0.00165839143970926	0.004
18	9388037	G	T	18	9388039	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.224-1G>T)	.	.	0.00223172515695393	0.006
18	9388038	A	C	18	9388040	n	y	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon4:c.A224C:p.D75A;	3.05883123947856E-4	0.026
18	9388038	A	G	18	9388040	n	y	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon4:c.A224G:p.D75G;	3.05883123947856E-4	0.026
18	9388038	A	T	18	9388040	n	y	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon4:c.A224T:p.D75V;	3.05883123947856E-4	0.028
18	9388039	T	A	18	9388041	n	y	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon4:c.T225A:p.D75E;	4.24514926875715E-5	0.002
18	9388039	T	C	18	9388041	n	y	intronic	TWSG1	.	.	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000583147:exon4:c.T225C:p.D75D;	1.18781867089147E-5	0.002
18	9388039	T	G	18	9388041	n	y	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000583147:exon4:c.T225G:p.D75E;	7.71572335897084E-5	0.002
18	9388136	G	A	18	9388138	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.05210436564933E-5	0.002
18	9388136	G	C	18	9388138	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.05210436564933E-5	0.002
18	9388136	G	T	18	9388138	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.05210436564933E-5	0.002
18	9388137	T	A	18	9388139	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	1.46004206284423E-5	0.0
18	9388137	T	C	18	9388139	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	1.46004206284423E-5	0.0
18	9388137	T	G	18	9388139	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	1.46004206284423E-5	0.0
18	9388138	G	A	18	9388140	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.02885091851015E-4	0.046
18	9388138	G	C	18	9388140	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.02885091851015E-4	0.044
18	9388138	G	T	18	9388140	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.02885091851015E-4	0.044
18	9388139	G	A	18	9388141	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.324+1G>A)	.	.	3.78864525412067E-5	0.0
18	9388139	G	C	18	9388141	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.324+1G>C)	.	.	3.78864525412067E-5	0.0
18	9388139	G	T	18	9388141	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.324+1G>T)	.	.	3.78864525412067E-5	0.0
18	9388140	T	A	18	9388142	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.324+2T>A)	.	.	6.53308888829713E-4	0.006
18	9388140	T	C	18	9388142	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.324+2T>C)	.	.	6.53308888829713E-4	0.006
18	9388140	T	G	18	9388142	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon4:c.324+2T>G)	.	.	6.53308888829713E-4	0.006
18	9388141	A	C	18	9388143	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.12288223045236E-5	0.002
18	9388141	A	G	18	9388143	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.12288223045236E-5	0.002
18	9388141	A	T	18	9388143	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.12288223045236E-5	0.002
18	9388142	T	A	18	9388144	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.12288223045236E-5	0.002
18	9388142	T	C	18	9388144	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.12288223045236E-5	0.002
18	9388142	T	G	18	9388144	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.12288223045236E-5	0.002
18	9388143	C	A	18	9388145	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.05210436564933E-5	0.002
18	9388143	C	G	18	9388145	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.05210436564933E-5	0.002
18	9388143	C	T	18	9388145	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.05210436564933E-5	0.002
18	9388144	C	A	18	9388146	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.58927937202005E-5	0.002
18	9388144	C	G	18	9388146	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.0288925866825E-5	0.018
18	9388144	C	T	18	9388146	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.58927937202005E-5	0.002
18	9388145	T	A	18	9388147	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.52230847844243E-4	0.012
18	9388145	T	C	18	9388147	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.52230847844243E-4	0.082
18	9388145	T	G	18	9388147	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.52230847844243E-4	0.072
18	9388146	T	A	18	9388148	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.52230847844243E-4	0.016
18	9388146	T	C	18	9388148	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.52230847844243E-4	0.016
18	9388146	T	G	18	9388148	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.52230847844243E-4	0.016
18	9388350	A	C	18	9388352	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.50378308532496E-5	0.002
18	9388350	A	G	18	9388352	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.50378308532496E-5	0.002
18	9388350	A	T	18	9388352	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.92772598195944E-5	0.002
18	9388351	C	A	18	9388353	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.67864951622834E-4	0.004
18	9388351	C	G	18	9388353	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.67864951622834E-4	0.004
18	9388351	C	T	18	9388353	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.67864951622834E-4	0.004
18	9388352	A	C	18	9388354	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.25760384924198E-5	0.002
18	9388352	A	G	18	9388354	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.25760384924198E-5	0.004
18	9388352	A	T	18	9388354	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.25760384924198E-5	0.002
18	9388353	T	A	18	9388355	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.99031865030848E-4	0.002
18	9388353	T	C	18	9388355	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00141100066871869	0.004
18	9388353	T	G	18	9388355	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00141100066871869	0.006
18	9388354	T	A	18	9388356	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.62366799521582E-4	0.006
18	9388354	T	C	18	9388356	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.62366799521582E-4	0.008
18	9388354	T	G	18	9388356	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.62366799521582E-4	0.008
18	9388355	G	A	18	9388357	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.60081151915995E-4	0.008
18	9388355	G	C	18	9388357	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.60081151915995E-4	0.032
18	9388355	G	T	18	9388357	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.60081151915995E-4	0.006
18	9388356	A	C	18	9388358	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.24642887656211E-5	0.008
18	9388356	A	G	18	9388358	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.24642887656211E-5	0.008
18	9388356	A	T	18	9388358	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.24642887656211E-5	0.012
18	9388357	A	C	18	9388359	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.68312558403116E-4	0.034
18	9388357	A	G	18	9388359	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.68312558403116E-4	0.034
18	9388357	A	T	18	9388359	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.05883123947856E-4	0.028
18	9388358	C	A	18	9388360	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.57607375837078E-5	0.006
18	9388358	C	G	18	9388360	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.57607375837078E-5	0.008
18	9388358	C	T	18	9388360	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.57607375837078E-5	0.006
18	9388359	A	C	18	9388361	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.68312558403116E-4	0.034
18	9388359	A	G	18	9388361	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.68312558403116E-4	0.034
18	9388359	A	T	18	9388361	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.05883123947856E-4	0.028
18	9388360	A	C	18	9388362	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.325-2A>C)	.	.	9.33760749665166E-4	0.022
18	9388360	A	G	18	9388362	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.325-2A>G)	.	.	9.33760749665166E-4	0.022
18	9388360	A	T	18	9388362	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.325-2A>T)	.	.	0.00120978708331787	0.02
18	9388361	G	A	18	9388363	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.325-1G>A)	.	.	0.00199590941298324	0.008
18	9388361	G	C	18	9388363	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.325-1G>C)	.	.	0.00110797651291257	0.004
18	9388361	G	T	18	9388363	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.325-1G>T)	.	.	0.00110797651291257	0.004
18	9388362	G	A	18	9388364	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.60081151915995E-4	0.014
18	9388362	G	C	18	9388364	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.60081151915995E-4	0.046
18	9388362	G	T	18	9388364	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.60081151915995E-4	0.01
18	9388363	A	C	18	9388365	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	1.8607438459496E-5	0.002
18	9388363	A	G	18	9388365	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	1.8607438459496E-5	0.002
18	9388363	A	T	18	9388365	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	1.8607438459496E-5	0.002
18	9388416	A	C	18	9388418	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.4021263581521E-4	0.07
18	9388416	A	G	18	9388418	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.4021263581521E-4	0.07
18	9388416	A	T	18	9388418	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.4021263581521E-4	0.134
18	9388417	A	C	18	9388419	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.4021263581521E-4	0.07
18	9388417	A	G	18	9388419	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.4021263581521E-4	0.068
18	9388417	A	T	18	9388419	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	3.4021263581521E-4	0.126
18	9388418	G	A	18	9388420	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.84193600056129E-5	0.0
18	9388418	G	C	18	9388420	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.84193600056129E-5	0.0
18	9388418	G	T	18	9388420	n	y	intronic	TWSG1	.	.	UTR3	ENSG00000128791	.	.	2.84193600056129E-5	0.0
18	9388419	G	A	18	9388421	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.381+1G>A)	.	.	3.78864525412067E-5	0.0
18	9388419	G	C	18	9388421	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.381+1G>C)	.	.	2.45277156108894E-5	0.0
18	9388419	G	T	18	9388421	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.381+1G>T)	.	.	3.78864525412067E-5	0.0
18	9388420	T	A	18	9388422	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.381+2T>A)	.	.	2.41782489535009E-5	0.002
18	9388420	T	C	18	9388422	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.381+2T>C)	.	.	2.41782489535009E-5	0.004
18	9388420	T	G	18	9388422	n	y	intronic	TWSG1	.	.	splicing	ENSG00000128791(ENST00000583147:exon5:c.381+2T>G)	.	.	2.41782489535009E-5	0.004
18	9388421	A	C	18	9388423	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.43353378206667E-4	0.062
18	9388421	A	G	18	9388423	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.43353378206667E-4	0.062
18	9388421	A	T	18	9388423	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.98596358557449E-4	0.066
18	9388422	A	C	18	9388424	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.26235091560327E-5	0.002
18	9388422	A	G	18	9388424	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.26235091560327E-5	0.002
18	9388422	A	T	18	9388424	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.26235091560327E-5	0.002
18	9388423	C	A	18	9388425	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.02885091851015E-4	0.038
18	9388423	C	G	18	9388425	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.02885091851015E-4	0.038
18	9388423	C	T	18	9388425	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.02885091851015E-4	0.038
18	9388424	T	A	18	9388426	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.4021263581521E-4	0.068
18	9388424	T	C	18	9388426	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.43353378206667E-4	0.062
18	9388424	T	G	18	9388426	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.43353378206667E-4	0.062
18	9388425	A	C	18	9388427	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	7.2694790039333E-6	0.014
18	9388425	A	G	18	9388427	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	7.2694790039333E-6	0.01
18	9388425	A	T	18	9388427	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.12288223045236E-5	0.002
18	9388426	C	A	18	9388428	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.53394389251674E-5	0.002
18	9388426	C	G	18	9388428	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.53394389251674E-5	0.004
18	9388426	C	T	18	9388428	n	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.36940056884885E-5	0.018
18	9396266	C	A	18	9396268	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	7.23845267997551E-4	0.038
18	9396266	C	G	18	9396268	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.998996672977788	0.978
18	9396266	C	T	18	9396268	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.99226026967591E-5	0.0
18	9396267	C	A	18	9396269	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00578849760199655	0.054
18	9396267	C	G	18	9396269	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00209991408997598	0.076
18	9396267	C	T	18	9396269	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.14805369353264E-4	0.004
18	9396268	C	A	18	9396270	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.66357225791897E-4	0.042
18	9396268	C	G	18	9396270	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.82914175698864E-4	0.078
18	9396268	C	T	18	9396270	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.64180754726827E-5	0.0
18	9396269	C	A	18	9396271	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0999366403079469	0.102
18	9396269	C	G	18	9396271	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00211783006059757	0.086
18	9396269	C	T	18	9396271	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.64187075035716E-4	0.002
18	9396270	C	A	18	9396272	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.08051691926276E-4	0.152
18	9396270	C	G	18	9396272	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.84953013006696E-4	0.154
18	9396270	C	T	18	9396272	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.93299406238131E-5	0.052
18	9396271	A	C	18	9396273	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.63893490425848E-5	0.002
18	9396271	A	G	18	9396273	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.95416100750369E-5	0.002
18	9396271	A	T	18	9396273	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	2.12045736040035E-5	0.002
18	9396272	A	C	18	9396274	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.00684534904205E-5	0.002
18	9396272	A	G	18	9396274	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.876794896815147	0.914
18	9396272	A	T	18	9396274	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	3.00684534904205E-5	0.002
18	9396273	C	A	18	9396275	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.33218342995793E-4	0.126
18	9396273	C	G	18	9396275	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999919399987222	0.986
18	9396273	C	T	18	9396275	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.74668863281629E-5	0.006
18	9396274	C	A	18	9396276	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.97249998013542E-5	0.008
18	9396274	C	G	18	9396276	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.77770893954231E-4	0.084
18	9396274	C	T	18	9396276	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.89266692519992E-5	0.0
18	9396275	C	A	18	9396277	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.895271646291312	0.766
18	9396275	C	G	18	9396277	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.998724952528941	0.822
18	9396275	C	T	18	9396277	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.1962749013446E-4	0.17
18	9396276	A	C	18	9396278	y	y	splicing	TWSG1(NM_020648:exon4:c.224-2A>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon4:c.224-2A>C;ENST00000583147:exon6:c.382-2A>C;ENST00000581641:exon4:c.224-2A>C)	.	.	0.999992007541056	0.928
18	9396276	A	G	18	9396278	y	y	splicing	TWSG1(NM_020648:exon4:c.224-2A>G)	.	.	splicing	ENSG00000128791(ENST00000262120:exon4:c.224-2A>G;ENST00000583147:exon6:c.382-2A>G;ENST00000581641:exon4:c.224-2A>G)	.	.	0.999992007541056	0.928
18	9396276	A	T	18	9396278	y	y	splicing	TWSG1(NM_020648:exon4:c.224-2A>T)	.	.	splicing	ENSG00000128791(ENST00000262120:exon4:c.224-2A>T;ENST00000583147:exon6:c.382-2A>T;ENST00000581641:exon4:c.224-2A>T)	.	.	0.999992007541056	0.928
18	9396277	G	A	18	9396279	y	y	splicing	TWSG1(NM_020648:exon4:c.224-1G>A)	.	.	splicing	ENSG00000128791(ENST00000262120:exon4:c.224-1G>A;ENST00000583147:exon6:c.382-1G>A;ENST00000581641:exon4:c.224-1G>A)	.	.	0.999990938371702	0.926
18	9396277	G	C	18	9396279	y	y	splicing	TWSG1(NM_020648:exon4:c.224-1G>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon4:c.224-1G>C;ENST00000583147:exon6:c.382-1G>C;ENST00000581641:exon4:c.224-1G>C)	.	.	0.999990938371702	0.926
18	9396277	G	T	18	9396279	y	y	splicing	TWSG1(NM_020648:exon4:c.224-1G>T)	.	.	splicing	ENSG00000128791(ENST00000262120:exon4:c.224-1G>T;ENST00000583147:exon6:c.382-1G>T;ENST00000581641:exon4:c.224-1G>T)	.	.	0.999990938371702	0.926
18	9396278	G	A	18	9396280	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.G224A:p.G75D;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G224A:p.G75D;ENSG00000128791:ENST00000262120:exon4:c.G224A:p.G75D;	0.127760954766724	0.544
18	9396278	G	C	18	9396280	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.G224C:p.G75A;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G224C:p.G75A;ENSG00000128791:ENST00000262120:exon4:c.G224C:p.G75A;	0.994390662449454	0.936
18	9396278	G	T	18	9396280	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.G224T:p.G75V;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G224T:p.G75V;ENSG00000128791:ENST00000262120:exon4:c.G224T:p.G75V;	0.99914742326277	0.974
18	9396279	T	A	18	9396281	y	y	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon4:c.T225A:p.G75G;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T225A:p.G75G;ENSG00000128791:ENST00000262120:exon4:c.T225A:p.G75G;	5.1606746852649E-4	0.32
18	9396279	T	C	18	9396281	y	y	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon4:c.T225C:p.G75G;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T225C:p.G75G;ENSG00000128791:ENST00000262120:exon4:c.T225C:p.G75G;	7.0447065511654E-4	0.236
18	9396279	T	G	18	9396281	y	y	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon4:c.T225G:p.G75G;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T225G:p.G75G;ENSG00000128791:ENST00000262120:exon4:c.T225G:p.G75G;	6.89207270677266E-4	0.302
18	9396542	A	C	18	9396544	y	n	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.A488C:p.K163T;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A488C:p.K163T;ENSG00000128791:ENST00000262120:exon4:c.A488C:p.K163T;	0.0154648445803769	0.226
18	9396542	A	G	18	9396544	y	n	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.A488G:p.K163R;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A488G:p.K163R;ENSG00000128791:ENST00000262120:exon4:c.A488G:p.K163R;	0.0726985753910872	0.366
18	9396542	A	T	18	9396544	y	n	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.A488T:p.K163I;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A488T:p.K163I;ENSG00000128791:ENST00000262120:exon4:c.A488T:p.K163I;	0.917993851697081	0.594
18	9396543	A	C	18	9396545	y	n	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.A489C:p.K163N;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A489C:p.K163N;ENSG00000128791:ENST00000262120:exon4:c.A489C:p.K163N;	0.995407986157613	0.902
18	9396543	A	G	18	9396545	y	n	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon4:c.A489G:p.K163K;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A489G:p.K163K;ENSG00000128791:ENST00000262120:exon4:c.A489G:p.K163K;	0.992348769559347	0.936
18	9396543	A	T	18	9396545	y	n	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.A489T:p.K163N;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A489T:p.K163N;ENSG00000128791:ENST00000262120:exon4:c.A489T:p.K163N;	0.999749298767541	0.99
18	9396544	G	A	18	9396546	y	n	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.G490A:p.E164K;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G490A:p.G164S;ENSG00000128791:ENST00000262120:exon4:c.G490A:p.E164K;	0.999969445129775	0.998
18	9396544	G	C	18	9396546	y	n	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon4:c.G490C:p.E164Q;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G490C:p.G164R;ENSG00000128791:ENST00000262120:exon4:c.G490C:p.E164Q;	0.999964199677719	0.974
18	9396544	G	T	18	9396546	y	n	exonic	TWSG1	stopgain SNV	TWSG1:NM_020648:exon4:c.G490T:p.E164X;	exonic	ENSG00000128791	stopgain SNV	ENSG00000128791:ENST00000262120:exon4:c.G490T:p.E164X;	0.999899313255288	0.976
18	9396545	G	A	18	9396547	y	n	splicing	TWSG1(NM_020648:exon4:c.490+1G>A)	.	.	exonic;splicing	ENSG00000128791;ENSG00000128791(ENST00000262120:exon4:c.490+1G>A;ENST00000583147:exon6:c.648+1G>A)	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G491A:p.G164D;	0.999986675681007	0.94
18	9396545	G	C	18	9396547	y	n	splicing	TWSG1(NM_020648:exon4:c.490+1G>C)	.	.	exonic;splicing	ENSG00000128791;ENSG00000128791(ENST00000262120:exon4:c.490+1G>C;ENST00000583147:exon6:c.648+1G>C)	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G491C:p.G164A;	0.999986675681007	0.94
18	9396545	G	T	18	9396547	y	n	splicing	TWSG1(NM_020648:exon4:c.490+1G>T)	.	.	exonic;splicing	ENSG00000128791;ENSG00000128791(ENST00000262120:exon4:c.490+1G>T;ENST00000583147:exon6:c.648+1G>T)	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G491T:p.G164V;	0.999986675681007	0.94
18	9396546	T	A	18	9396548	y	n	splicing	TWSG1(NM_020648:exon4:c.490+2T>A)	.	.	exonic;splicing	ENSG00000128791;ENSG00000128791(ENST00000262120:exon4:c.490+2T>A;ENST00000583147:exon6:c.648+2T>A)	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T492A:p.G164G;	0.999989917668626	0.928
18	9396546	T	C	18	9396548	y	n	splicing	TWSG1(NM_020648:exon4:c.490+2T>C)	.	.	exonic;splicing	ENSG00000128791;ENSG00000128791(ENST00000262120:exon4:c.490+2T>C;ENST00000583147:exon6:c.648+2T>C)	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T492C:p.G164G;	0.991007250132327	0.596
18	9396546	T	G	18	9396548	y	n	splicing	TWSG1(NM_020648:exon4:c.490+2T>G)	.	.	exonic;splicing	ENSG00000128791;ENSG00000128791(ENST00000262120:exon4:c.490+2T>G;ENST00000583147:exon6:c.648+2T>G)	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T492G:p.G164G;	0.999989917668626	0.928
18	9396547	A	C	18	9396549	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A493C:p.N165H;	0.999774376846537	0.852
18	9396547	A	G	18	9396549	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A493G:p.N165D;	0.994619417581307	0.918
18	9396547	A	T	18	9396549	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A493T:p.N165Y;	0.999975641170482	0.92
18	9396548	A	C	18	9396550	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A494C:p.N165T;	0.266257165181577	0.382
18	9396548	A	G	18	9396550	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A494G:p.N165S;	0.124148203034885	0.438
18	9396548	A	T	18	9396550	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.A494T:p.N165I;	0.244334807778608	0.364
18	9396549	C	A	18	9396551	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.C495A:p.N165K;	3.48888693324363E-5	0.006
18	9396549	C	G	18	9396551	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.C495G:p.N165K;	7.93702202926684E-5	0.004
18	9396549	C	T	18	9396551	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.C495T:p.N165N;	6.18448274384566E-5	0.0
18	9396550	T	A	18	9396552	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T496A:p.C166S;	0.00517128533740651	0.134
18	9396550	T	C	18	9396552	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T496C:p.C166R;	0.00126718700500487	0.066
18	9396550	T	G	18	9396552	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.T496G:p.C166G;	1.36905347474555E-4	0.092
18	9396551	G	A	18	9396553	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G497A:p.C166Y;	6.18199364273906E-5	0.0
18	9396551	G	C	18	9396553	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G497C:p.C166S;	6.18199364273906E-5	0.0
18	9396551	G	T	18	9396553	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.G497T:p.C166F;	9.79676592791604E-5	0.0
18	9396552	C	A	18	9396554	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	stopgain SNV	ENSG00000128791:ENST00000581641:exon4:c.C498A:p.C166X;	4.13557207791873E-4	0.006
18	9396552	C	G	18	9396554	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.C498G:p.C166W;	1.50286139122225E-4	0.0
18	9396552	C	T	18	9396554	y	n	intronic	TWSG1	.	.	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000581641:exon4:c.C498T:p.C166C;	1.69699604695665E-4	0.0
18	9399332	T	A	18	9399334	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00192521383350775	0.128
18	9399332	T	C	18	9399334	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	5.0850740891136E-4	0.086
18	9399332	T	G	18	9399334	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00263706965389303	0.142
18	9399333	T	A	18	9399335	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.278897637306623	0.396
18	9399333	T	C	18	9399335	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0250658441982449	0.324
18	9399333	T	G	18	9399335	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0581735821905469	0.356
18	9399334	T	A	18	9399336	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999934097899308	0.968
18	9399334	T	C	18	9399336	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.05764046934799E-4	0.148
18	9399334	T	G	18	9399336	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00156761253738634	0.178
18	9399335	G	A	18	9399337	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	4.11978760867117E-4	0.016
18	9399335	G	C	18	9399337	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.44255389264279E-4	0.004
18	9399335	G	T	18	9399337	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	1.36435458180023E-4	0.016
18	9399336	T	A	18	9399338	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00195358903524797	0.144
18	9399336	T	C	18	9399338	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	9.46102241377468E-5	0.022
18	9399336	T	G	18	9399338	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	6.21128733986757E-4	0.108
18	9399337	T	A	18	9399339	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00132793247961591	0.106
18	9399337	T	C	18	9399339	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	8.71094938163646E-5	0.006
18	9399337	T	G	18	9399339	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	7.99418676822152E-4	0.102
18	9399338	T	A	18	9399340	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0512050206626862	0.232
18	9399338	T	C	18	9399340	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00240945232329194	0.088
18	9399338	T	G	18	9399340	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.111979608802584	0.282
18	9399339	T	A	18	9399341	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0916019976488036	0.278
18	9399339	T	C	18	9399341	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0158551710197696	0.22
18	9399339	T	G	18	9399341	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.292959044340297	0.318
18	9399340	T	A	18	9399342	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00111766559225704	0.008
18	9399340	T	C	18	9399342	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.00134638271153695	0.06
18	9399340	T	G	18	9399342	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.0067953240659002	0.112
18	9399341	C	A	18	9399343	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.997669261734503	0.904
18	9399341	C	G	18	9399343	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.999858309666573	0.948
18	9399341	C	T	18	9399343	y	y	intronic	TWSG1	.	.	intronic	ENSG00000128791	.	.	0.68913500435775	0.348
18	9399342	A	C	18	9399344	y	y	splicing	TWSG1(NM_020648:exon5:c.491-2A>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon5:c.491-2A>C;ENST00000583147:exon7:c.649-2A>C)	.	.	0.999993519952936	0.926
18	9399342	A	G	18	9399344	y	y	splicing	TWSG1(NM_020648:exon5:c.491-2A>G)	.	.	splicing	ENSG00000128791(ENST00000262120:exon5:c.491-2A>G;ENST00000583147:exon7:c.649-2A>G)	.	.	0.999993519952936	0.926
18	9399342	A	T	18	9399344	y	y	splicing	TWSG1(NM_020648:exon5:c.491-2A>T)	.	.	splicing	ENSG00000128791(ENST00000262120:exon5:c.491-2A>T;ENST00000583147:exon7:c.649-2A>T)	.	.	0.999993519952936	0.928
18	9399343	G	A	18	9399345	y	y	splicing	TWSG1(NM_020648:exon5:c.491-1G>A)	.	.	splicing	ENSG00000128791(ENST00000262120:exon5:c.491-1G>A;ENST00000583147:exon7:c.649-1G>A)	.	.	0.999988247793601	0.93
18	9399343	G	C	18	9399345	y	y	splicing	TWSG1(NM_020648:exon5:c.491-1G>C)	.	.	splicing	ENSG00000128791(ENST00000262120:exon5:c.491-1G>C;ENST00000583147:exon7:c.649-1G>C)	.	.	0.999988247793601	0.93
18	9399343	G	T	18	9399345	y	y	splicing	TWSG1(NM_020648:exon5:c.491-1G>T)	.	.	splicing	ENSG00000128791(ENST00000262120:exon5:c.491-1G>T;ENST00000583147:exon7:c.649-1G>T)	.	.	0.999988247793601	0.93
18	9399344	A	C	18	9399346	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon5:c.A491C:p.E164A;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000262120:exon5:c.A491C:p.E164A;	0.0693057801337457	0.348
18	9399344	A	G	18	9399346	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon5:c.A491G:p.E164G;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000262120:exon5:c.A491G:p.E164G;	0.107736029029789	0.462
18	9399344	A	T	18	9399346	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon5:c.A491T:p.E164V;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000262120:exon5:c.A491T:p.E164V;	0.0753775704421059	0.452
18	9399345	A	C	18	9399347	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon5:c.A492C:p.E164D;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000262120:exon5:c.A492C:p.E164D;	0.00194856413583154	0.01
18	9399345	A	G	18	9399347	y	y	exonic	TWSG1	synonymous SNV	TWSG1:NM_020648:exon5:c.A492G:p.E164E;	exonic	ENSG00000128791	synonymous SNV	ENSG00000128791:ENST00000262120:exon5:c.A492G:p.E164E;	6.0873361680765E-4	0.016
18	9399345	A	T	18	9399347	y	y	exonic	TWSG1	nonsynonymous SNV	TWSG1:NM_020648:exon5:c.A492T:p.E164D;	exonic	ENSG00000128791	nonsynonymous SNV	ENSG00000128791:ENST00000262120:exon5:c.A492T:p.E164D;	2.00274869884568E-4	0.0
18	9475172	G	A	18	9475174	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	5.08375779173333E-5	0.002
18	9475172	G	C	18	9475174	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	5.08375779173333E-5	0.0
18	9475172	G	T	18	9475174	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	5.08375779173333E-5	0.0
18	9475173	G	A	18	9475175	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	1.02337758398172E-4	0.0
18	9475173	G	C	18	9475175	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	1.02337758398172E-4	0.0
18	9475173	G	T	18	9475175	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	1.02337758398172E-4	0.0
18	9475174	G	A	18	9475176	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	8.8551835119743E-4	0.022
18	9475174	G	C	18	9475176	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	8.8551835119743E-4	0.022
18	9475174	G	T	18	9475176	n	y	upstream	RALBP1	.	.	UTR5	ENSG00000017797	.	.	8.8551835119743E-4	0.04
18	9475175	G	A	18	9475177	n	y	upstream	RALBP1	.	.	splicing	ENSG00000017797	.	.	9.75123824698313E-5	0.014
18	9475175	G	C	18	9475177	n	y	upstream	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.39179256655471E-4	0.012
18	9475175	G	T	18	9475177	n	y	upstream	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.39179256655471E-4	0.016
18	9475176	T	A	18	9475178	n	y	upstream	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.03419571978315E-4	0.002
18	9475176	T	C	18	9475178	n	y	upstream	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.47610205509752E-4	0.002
18	9475176	T	G	18	9475178	n	y	upstream	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.47610205509752E-4	0.002
18	9475177	A	C	18	9475179	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.39252134329056E-4	0.074
18	9475177	A	G	18	9475179	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.39252134329056E-4	0.036
18	9475177	A	T	18	9475179	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.63626172479922E-4	0.012
18	9475178	A	C	18	9475180	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.05808194911997E-5	0.008
18	9475178	A	G	18	9475180	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.05808194911997E-5	0.012
18	9475178	A	T	18	9475180	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.58255349957421E-5	0.006
18	9475179	G	A	18	9475181	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00918874967650165	0.018
18	9475179	G	C	18	9475181	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00918874967650165	0.014
18	9475179	G	T	18	9475181	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00918874967650165	0.022
18	9475180	C	A	18	9475182	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.35428655471156E-5	0.002
18	9475180	C	G	18	9475182	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.35428655471156E-5	0.002
18	9475180	C	T	18	9475182	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.35428655471156E-5	0.002
18	9475181	C	A	18	9475183	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.66107858676095E-5	0.0
18	9475181	C	G	18	9475183	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.66107858676095E-5	0.0
18	9475181	C	T	18	9475183	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.90066968634554E-5	0.0
18	9475182	G	A	18	9475184	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.99631197343012E-4	0.006
18	9475182	G	C	18	9475184	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.2194139863653E-4	0.0
18	9475182	G	T	18	9475184	n	y	upstream	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.4188848540582E-4	0.008
18	9475687	C	A	18	9475689	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.794752659493879	0.688
18	9475687	C	G	18	9475689	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.944192290283223	0.594
18	9475687	C	T	18	9475689	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.995585460969981	0.796
18	9475688	A	C	18	9475690	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.993074405681238	0.846
18	9475688	A	G	18	9475690	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.998942580362012	0.9
18	9475688	A	T	18	9475690	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.998867782381325	0.95
18	9475689	G	A	18	9475691	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.999899045764772	0.978
18	9475689	G	C	18	9475691	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.999953255156047	0.974
18	9475689	G	T	18	9475691	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.999908929617992	0.99
18	9475690	G	A	18	9475692	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999986675681007	0.934
18	9475690	G	C	18	9475692	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999986675681007	0.94
18	9475690	G	T	18	9475692	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999986675681007	0.94
18	9475691	T	A	18	9475693	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999989917668626	0.926
18	9475691	T	C	18	9475693	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.990945634311904	0.632
18	9475691	T	G	18	9475693	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999989917668626	0.926
18	9475692	C	A	18	9475694	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.85039647330047E-4	0.044
18	9475692	C	G	18	9475694	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.33344380463775E-5	0.02
18	9475692	C	T	18	9475694	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.50988731977012E-4	0.012
18	9475693	A	C	18	9475695	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.996909146609284	0.892
18	9475693	A	G	18	9475695	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.994372738060751	0.8
18	9475693	A	T	18	9475695	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.997201676413316	0.842
18	9475694	G	A	18	9475696	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.9988030408932	0.97
18	9475694	G	C	18	9475696	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.994492023456059	0.826
18	9475694	G	T	18	9475696	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.998590580176478	0.928
18	9475695	T	A	18	9475697	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.222169693404091	0.306
18	9475695	T	C	18	9475697	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.293800638055651	0.32
18	9475695	T	G	18	9475697	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0638568489855527	0.34
18	9475696	C	A	18	9475698	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.80014916385417E-5	0.0
18	9475696	C	G	18	9475698	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.17916519860247E-5	0.036
18	9475696	C	T	18	9475698	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.36557176419659E-4	0.014
18	9475697	G	A	18	9475699	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.16680427783628E-5	0.0
18	9475697	G	C	18	9475699	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.96323034491673E-5	0.0
18	9475697	G	T	18	9475699	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.16680427783628E-5	0.0
18	9476282	G	A	18	9476284	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	6.40950822019664E-5	0.008
18	9476282	G	C	18	9476284	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	6.40950822019664E-5	0.01
18	9476282	G	T	18	9476284	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	6.40950822019664E-5	0.008
18	9476283	A	C	18	9476285	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	4.79924118788921E-5	0.004
18	9476283	A	G	18	9476285	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	4.79924118788921E-5	0.004
18	9476283	A	T	18	9476285	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	8.31504677165458E-5	0.004
18	9476284	G	A	18	9476286	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.00846195178515722	0.02
18	9476284	G	C	18	9476286	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.00573390516583697	0.018
18	9476284	G	T	18	9476286	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.00573390516583697	0.018
18	9476285	G	A	18	9476287	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.60932467077392E-4	0.014
18	9476285	G	C	18	9476287	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.14381963664232E-4	0.01
18	9476285	G	T	18	9476287	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.60932467077392E-4	0.014
18	9476286	T	A	18	9476288	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.69171314780076E-4	0.002
18	9476286	T	C	18	9476288	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.20237970951444E-4	0.0
18	9476286	T	G	18	9476288	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.20237970951444E-4	0.0
18	9476287	C	A	18	9476289	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.36567682305367E-5	0.004
18	9476287	C	G	18	9476289	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.36567682305367E-5	0.006
18	9476287	C	T	18	9476289	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.36567682305367E-5	0.004
18	9476288	A	C	18	9476290	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.05918261028706E-4	0.0
18	9476288	A	G	18	9476290	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.05918261028706E-4	0.0
18	9476288	A	T	18	9476290	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.23244617478918E-4	0.0
18	9476289	G	A	18	9476291	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.36567682305367E-5	0.006
18	9476289	G	C	18	9476291	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.36567682305367E-5	0.006
18	9476289	G	T	18	9476291	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.36567682305367E-5	0.006
18	9476290	T	A	18	9476292	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.28395406066084E-5	0.0
18	9476290	T	C	18	9476292	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.54792972356724E-5	0.0
18	9476290	T	G	18	9476292	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.54792972356724E-5	0.0
18	9476291	G	A	18	9476293	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.85892088628007E-5	0.002
18	9476291	G	C	18	9476293	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.85892088628007E-5	0.002
18	9476291	G	T	18	9476293	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.85892088628007E-5	0.002
18	9476292	T	A	18	9476294	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.86075475573093E-5	0.002
18	9476292	T	C	18	9476294	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.86075475573093E-5	0.0
18	9476292	T	G	18	9476294	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.86075475573093E-5	0.0
18	9476955	C	A	18	9476957	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9476955	C	G	18	9476957	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9476955	C	T	18	9476957	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9476956	T	A	18	9476958	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.7395485643605E-5	0.006
18	9476956	T	C	18	9476958	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.9149404486172E-5	0.006
18	9476956	T	G	18	9476958	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.7395485643605E-5	0.008
18	9476957	T	A	18	9476959	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.7395485643605E-5	0.008
18	9476957	T	C	18	9476959	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.7395485643605E-5	0.006
18	9476957	T	G	18	9476959	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.7395485643605E-5	0.008
18	9476958	G	A	18	9476960	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.89582339735063E-5	0.02
18	9476958	G	C	18	9476960	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.32651317629065E-5	0.014
18	9476958	G	T	18	9476960	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.32651317629065E-5	0.018
18	9476959	T	A	18	9476961	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.60742385600787E-5	0.01
18	9476959	T	C	18	9476961	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.60742385600787E-5	0.01
18	9476959	T	G	18	9476961	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.60742385600787E-5	0.01
18	9476960	T	A	18	9476962	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.76502774581184E-5	0.0
18	9476960	T	C	18	9476962	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.14267203131726E-5	0.0
18	9476960	T	G	18	9476962	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.14267203131726E-5	0.0
18	9476961	G	A	18	9476963	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.10275622159801E-5	0.0
18	9476961	G	C	18	9476963	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.10275622159801E-5	0.0
18	9476961	G	T	18	9476963	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.10275622159801E-5	0.0
18	9476962	C	A	18	9476964	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.2694790039333E-6	0.0
18	9476962	C	G	18	9476964	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.2694790039333E-6	0.0
18	9476962	C	T	18	9476964	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.2694790039333E-6	0.002
18	9476963	C	A	18	9476965	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.2694790039333E-6	0.0
18	9476963	C	G	18	9476965	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.2694790039333E-6	0.0
18	9476963	C	T	18	9476965	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.2694790039333E-6	0.0
18	9476964	C	A	18	9476966	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9476964	C	G	18	9476966	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9476964	C	T	18	9476966	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.67406935090243E-5	0.02
18	9476965	A	C	18	9476967	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	6.7395485643605E-5	0.008
18	9476965	A	G	18	9476967	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	6.7395485643605E-5	0.006
18	9476965	A	T	18	9476967	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	5.03997877173435E-5	0.002
18	9476966	G	A	18	9476968	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	4.28766987286446E-5	0.006
18	9476966	G	C	18	9476968	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	4.28766987286446E-5	0.008
18	9476966	G	T	18	9476968	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	4.28766987286446E-5	0.006
18	9476967	G	A	18	9476969	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	7.89582339735063E-5	0.02
18	9476967	G	C	18	9476969	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	3.32651317629065E-5	0.016
18	9476967	G	T	18	9476969	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	7.89582339735063E-5	0.02
18	9476968	T	A	18	9476970	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	4.62829891511816E-5	0.002
18	9476968	T	C	18	9476970	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	4.62829891511816E-5	0.018
18	9476968	T	G	18	9476970	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	4.62829891511816E-5	0.018
18	9477249	A	C	18	9477251	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	3.80109675654916E-5	0.0
18	9477249	A	G	18	9477251	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	3.80109675654916E-5	0.0
18	9477249	A	T	18	9477251	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	3.80109675654916E-5	0.0
18	9477250	A	C	18	9477252	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	5.45045942448987E-4	0.006
18	9477250	A	G	18	9477252	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	5.45045942448987E-4	0.008
18	9477250	A	T	18	9477252	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	5.45045942448987E-4	0.006
18	9477251	G	A	18	9477253	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	3.01209109375653E-5	0.004
18	9477251	G	C	18	9477253	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	3.01209109375653E-5	0.014
18	9477251	G	T	18	9477253	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	3.01209109375653E-5	0.004
18	9477252	G	A	18	9477254	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.00113001047856856	0.004
18	9477252	G	C	18	9477254	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.00141159556750405	0.006
18	9477252	G	T	18	9477254	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.00113001047856856	0.004
18	9477253	T	A	18	9477255	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	3.39457982047225E-5	0.0
18	9477253	T	C	18	9477255	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	3.39457982047225E-5	0.0
18	9477253	T	G	18	9477255	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	3.39457982047225E-5	0.0
18	9477254	A	C	18	9477256	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.14971862334513E-5	0.002
18	9477254	A	G	18	9477256	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.14971862334513E-5	0.002
18	9477254	A	T	18	9477256	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.14971862334513E-5	0.002
18	9477255	T	A	18	9477257	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.05567792764038E-5	0.0
18	9477255	T	C	18	9477257	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.05567792764038E-5	0.006
18	9477255	T	G	18	9477257	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.05567792764038E-5	0.002
18	9477256	C	A	18	9477258	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.04701645548368E-5	0.02
18	9477256	C	G	18	9477258	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.04701645548368E-5	0.018
18	9477256	C	T	18	9477258	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.04701645548368E-5	0.044
18	9477257	T	A	18	9477259	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.17119222840784E-5	0.004
18	9477257	T	C	18	9477259	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.14971862334513E-5	0.004
18	9477257	T	G	18	9477259	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.14971862334513E-5	0.004
18	9477258	C	A	18	9477260	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.10275622159801E-5	0.0
18	9477258	C	G	18	9477260	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.10275622159801E-5	0.0
18	9477258	C	T	18	9477260	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.10275622159801E-5	0.0
18	9477259	G	A	18	9477261	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.89210916601576E-5	0.0
18	9477259	G	C	18	9477261	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.89210916601576E-5	0.0
18	9477259	G	T	18	9477261	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.89210916601576E-5	0.0
18	9479330	T	A	18	9479332	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479330	T	C	18	9479332	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.002
18	9479330	T	G	18	9479332	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479331	T	A	18	9479333	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479331	T	C	18	9479333	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479331	T	G	18	9479333	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479332	T	A	18	9479334	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479332	T	C	18	9479334	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479332	T	G	18	9479334	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479333	T	A	18	9479335	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479333	T	C	18	9479335	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479333	T	G	18	9479335	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479334	T	A	18	9479336	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479334	T	C	18	9479336	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479334	T	G	18	9479336	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479335	T	A	18	9479337	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479335	T	C	18	9479337	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479335	T	G	18	9479337	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479336	T	A	18	9479338	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479336	T	C	18	9479338	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479336	T	G	18	9479338	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479337	T	A	18	9479339	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.30338091304305E-5	0.002
18	9479337	T	C	18	9479339	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.30338091304305E-5	0.0
18	9479337	T	G	18	9479339	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.30338091304305E-5	0.0
18	9479338	G	A	18	9479340	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479338	G	C	18	9479340	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479338	G	T	18	9479340	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479339	T	A	18	9479341	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479339	T	C	18	9479341	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479339	T	G	18	9479341	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.70357316916945E-5	0.0
18	9479340	A	C	18	9479342	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479340	A	G	18	9479342	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479340	A	T	18	9479342	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479341	G	A	18	9479343	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9479341	G	C	18	9479343	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9479341	G	T	18	9479343	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9479342	A	C	18	9479344	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.63141535133926E-5	0.002
18	9479342	A	G	18	9479344	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.63141535133926E-5	0.02
18	9479342	A	T	18	9479344	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479343	G	A	18	9479345	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.45277156108894E-5	0.0
18	9479343	G	C	18	9479345	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.45277156108894E-5	0.0
18	9479343	G	T	18	9479345	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.45277156108894E-5	0.0
18	9479433	C	A	18	9479435	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	3.83488359282596E-5	0.006
18	9479433	C	G	18	9479435	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	1.42005417025298E-5	0.0
18	9479433	C	T	18	9479435	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	4.25199343570169E-5	0.058
18	9479434	G	A	18	9479436	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9479434	G	C	18	9479436	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	1.08378557604853E-5	0.002
18	9479434	G	T	18	9479436	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9479435	T	A	18	9479437	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.83935518155002E-5	0.0
18	9479435	T	C	18	9479437	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479435	T	G	18	9479437	n	y	intronic	RALBP1	.	.	UTR5	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479436	G	A	18	9479438	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.80635910608335E-5	0.002
18	9479436	G	C	18	9479438	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9479436	G	T	18	9479438	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	1.67406935090243E-5	0.0
18	9479437	T	A	18	9479439	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	6.7395485643605E-5	0.006
18	9479437	T	C	18	9479439	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	6.7395485643605E-5	0.008
18	9479437	T	G	18	9479439	n	y	intronic	RALBP1	.	.	splicing	ENSG00000017797	.	.	6.7395485643605E-5	0.006
18	9479438	A	C	18	9479440	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.30338091304305E-5	0.002
18	9479438	A	G	18	9479440	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.30338091304305E-5	0.002
18	9479438	A	T	18	9479440	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.30338091304305E-5	0.002
18	9479439	A	C	18	9479441	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479439	A	G	18	9479441	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479439	A	T	18	9479441	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479440	G	A	18	9479442	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479440	G	C	18	9479442	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479440	G	T	18	9479442	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479441	C	A	18	9479443	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479441	C	G	18	9479443	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479441	C	T	18	9479443	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479442	C	A	18	9479444	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479442	C	G	18	9479444	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.0
18	9479442	C	T	18	9479444	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08378557604853E-5	0.002
18	9479443	A	C	18	9479445	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479443	A	G	18	9479445	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9479443	A	T	18	9479445	n	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.63141535133926E-5	0.0
18	9512977	C	A	18	9512979	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.19247319968392E-5	0.02
18	9512977	C	G	18	9512979	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.84161448910965E-5	0.004
18	9512977	C	T	18	9512979	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.03712180113051E-5	0.002
18	9512978	T	A	18	9512980	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.62818627996852	0.396
18	9512978	T	C	18	9512980	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.92319354271976E-4	0.028
18	9512978	T	G	18	9512980	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.262253279421042	0.402
18	9512979	C	A	18	9512981	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.54941389066933E-4	0.042
18	9512979	C	G	18	9512981	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.6405674547042E-4	0.028
18	9512979	C	T	18	9512981	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.43134158953909E-5	0.0
18	9512980	T	A	18	9512982	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.279539291651768	0.376
18	9512980	T	C	18	9512982	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.19894514243817E-4	0.004
18	9512980	T	G	18	9512982	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.187063540492474	0.352
18	9512981	T	A	18	9512983	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.99839272148312	0.99
18	9512981	T	C	18	9512983	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.55524578838825E-5	0.0
18	9512981	T	G	18	9512983	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00178244668601932	0.054
18	9512982	G	A	18	9512984	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.833356678061878	0.894
18	9512982	G	C	18	9512984	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.45042004445912E-5	0.0
18	9512982	G	T	18	9512984	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.16738266513237E-5	0.0
18	9512983	G	A	18	9512985	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.29267902637931E-4	0.01
18	9512983	G	C	18	9512985	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.64305550328267E-5	0.0
18	9512983	G	T	18	9512985	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.65047354028333E-5	0.0
18	9512984	T	A	18	9512986	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.990923721458636	0.778
18	9512984	T	C	18	9512986	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.08827691957517E-5	0.014
18	9512984	T	G	18	9512986	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.174272282932462	0.44
18	9512985	G	A	18	9512987	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.4131078085941E-5	0.016
18	9512985	G	C	18	9512987	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.80419865770403E-5	0.014
18	9512985	G	T	18	9512987	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.33822480437414E-5	0.002
18	9512986	C	A	18	9512988	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.82284799839629	0.606
18	9512986	C	G	18	9512988	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.99950486580214	0.916
18	9512986	C	T	18	9512988	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.73295024590029E-4	0.058
18	9512987	A	C	18	9512989	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999965414246739	0.928
18	9512987	A	G	18	9512989	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999965414246739	0.934
18	9512987	A	T	18	9512989	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999965414246739	0.946
18	9512988	G	A	18	9512990	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999964896440643	0.936
18	9512988	G	C	18	9512990	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999951957019574	0.894
18	9512988	G	T	18	9512990	y	y	splicing	RALBP1	.	.	splicing	ENSG00000017797	.	.	0.999963671976247	0.934
18	9512989	G	A	18	9512991	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.0207071106233607	0.202
18	9512989	G	C	18	9512991	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.0423240814031899	0.314
18	9512989	G	T	18	9512991	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.778906722483201	0.444
18	9512990	T	A	18	9512992	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.00659386557184766	0.058
18	9512990	T	C	18	9512992	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.00425308040496753	0.052
18	9512990	T	G	18	9512992	y	y	UTR5	RALBP1	.	.	UTR5	ENSG00000017797	.	.	0.00520735223372496	0.208
18	9513285	G	A	18	9513287	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon2:c.G242A:p.R81K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.G242A:p.R81K;ENSG00000017797:ENST00000458039:exon2:c.G242A:p.R81K;ENSG00000017797:ENST00000585015:exon3:c.G242A:p.R81K;ENSG00000017797:ENST00000019317:exon2:c.G242A:p.R81K;	0.885561703399214	0.66
18	9513285	G	C	18	9513287	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon2:c.G242C:p.R81T;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.G242C:p.R81T;ENSG00000017797:ENST00000458039:exon2:c.G242C:p.R81T;ENSG00000017797:ENST00000585015:exon3:c.G242C:p.R81T;ENSG00000017797:ENST00000019317:exon2:c.G242C:p.R81T;	0.854917755413272	0.68
18	9513285	G	T	18	9513287	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon2:c.G242T:p.R81M;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.G242T:p.R81M;ENSG00000017797:ENST00000458039:exon2:c.G242T:p.R81M;ENSG00000017797:ENST00000585015:exon3:c.G242T:p.R81M;ENSG00000017797:ENST00000019317:exon2:c.G242T:p.R81M;	0.945609173566561	0.708
18	9513286	G	A	18	9513288	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon2:c.G243A:p.R81R;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.G243A:p.R81R;ENSG00000017797:ENST00000458039:exon2:c.G243A:p.R81R;ENSG00000017797:ENST00000585015:exon3:c.G243A:p.R81R;ENSG00000017797:ENST00000019317:exon2:c.G243A:p.R81R;	3.57484025455111E-4	0.058
18	9513286	G	C	18	9513288	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon2:c.G243C:p.R81S;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.G243C:p.R81S;ENSG00000017797:ENST00000458039:exon2:c.G243C:p.R81S;ENSG00000017797:ENST00000585015:exon3:c.G243C:p.R81S;ENSG00000017797:ENST00000019317:exon2:c.G243C:p.R81S;	0.0030623682710587	0.136
18	9513286	G	T	18	9513288	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon2:c.G243T:p.R81S;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.G243T:p.R81S;ENSG00000017797:ENST00000458039:exon2:c.G243T:p.R81S;ENSG00000017797:ENST00000585015:exon3:c.G243T:p.R81S;ENSG00000017797:ENST00000019317:exon2:c.G243T:p.R81S;	0.0210157590230922	0.202
18	9513287	A	C	18	9513289	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon2:c.A244C:p.T82P;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.A244C:p.T82P;ENSG00000017797:ENST00000458039:exon2:c.A244C:p.T82P;ENSG00000017797:ENST00000585015:exon3:c.A244C:p.T82P;ENSG00000017797:ENST00000019317:exon2:c.A244C:p.T82P;	0.337102776602403	0.656
18	9513287	A	G	18	9513289	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon2:c.A244G:p.T82A;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.A244G:p.T82A;ENSG00000017797:ENST00000458039:exon2:c.A244G:p.T82A;ENSG00000017797:ENST00000585015:exon3:c.A244G:p.T82A;ENSG00000017797:ENST00000019317:exon2:c.A244G:p.T82A;	0.484258562611024	0.432
18	9513287	A	T	18	9513289	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon2:c.A244T:p.T82S;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon2:c.A244T:p.T82S;ENSG00000017797:ENST00000458039:exon2:c.A244T:p.T82S;ENSG00000017797:ENST00000585015:exon3:c.A244T:p.T82S;ENSG00000017797:ENST00000019317:exon2:c.A244T:p.T82S;	0.689082425959637	0.54
18	9513288	G	A	18	9513290	y	y	splicing	RALBP1(NM_006788:exon2:c.244+1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon2:c.244+1G>A;ENST00000585015:exon3:c.244+1G>A;ENST00000383432:exon2:c.244+1G>A;ENST00000458039:exon2:c.244+1G>A)	.	.	0.999988247793601	0.924
18	9513288	G	C	18	9513290	y	y	splicing	RALBP1(NM_006788:exon2:c.244+1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon2:c.244+1G>C;ENST00000585015:exon3:c.244+1G>C;ENST00000383432:exon2:c.244+1G>C;ENST00000458039:exon2:c.244+1G>C)	.	.	0.999988247793601	0.924
18	9513288	G	T	18	9513290	y	y	splicing	RALBP1(NM_006788:exon2:c.244+1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon2:c.244+1G>T;ENST00000585015:exon3:c.244+1G>T;ENST00000383432:exon2:c.244+1G>T;ENST00000458039:exon2:c.244+1G>T)	.	.	0.999988247793601	0.924
18	9513289	T	A	18	9513291	y	y	splicing	RALBP1(NM_006788:exon2:c.244+2T>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon2:c.244+2T>A;ENST00000585015:exon3:c.244+2T>A;ENST00000383432:exon2:c.244+2T>A;ENST00000458039:exon2:c.244+2T>A)	.	.	0.999992446697775	0.93
18	9513289	T	C	18	9513291	y	y	splicing	RALBP1(NM_006788:exon2:c.244+2T>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon2:c.244+2T>C;ENST00000585015:exon3:c.244+2T>C;ENST00000383432:exon2:c.244+2T>C;ENST00000458039:exon2:c.244+2T>C)	.	.	0.989838600809155	0.596
18	9513289	T	G	18	9513291	y	y	splicing	RALBP1(NM_006788:exon2:c.244+2T>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon2:c.244+2T>G;ENST00000585015:exon3:c.244+2T>G;ENST00000383432:exon2:c.244+2T>G;ENST00000458039:exon2:c.244+2T>G)	.	.	0.999992446697775	0.928
18	9513290	A	C	18	9513292	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999796593115315	0.87
18	9513290	A	G	18	9513292	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.556867562862413	0.43
18	9513290	A	T	18	9513292	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999768095419263	0.89
18	9513291	A	C	18	9513293	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999170355926659	0.73
18	9513291	A	G	18	9513293	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.995605800486802	0.818
18	9513291	A	T	18	9513293	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.989886943085545	0.738
18	9513292	G	A	18	9513294	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999974028389154	0.974
18	9513292	G	C	18	9513294	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999985348015312	0.968
18	9513292	G	T	18	9513294	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999979576468003	0.982
18	9513293	T	A	18	9513295	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.966731610937281	0.664
18	9513293	T	C	18	9513295	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.984717765699402	0.75
18	9513293	T	G	18	9513295	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.972348230435271	0.694
18	9513294	G	A	18	9513296	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.59358362265062E-5	0.026
18	9513294	G	C	18	9513296	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.95853904142978E-5	0.002
18	9513294	G	T	18	9513296	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.28951653551821E-5	0.0
18	9513295	C	A	18	9513297	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.09983635597947E-5	0.0
18	9513295	C	G	18	9513297	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.33141600191487E-5	0.0
18	9513295	C	T	18	9513297	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.09983635597947E-5	0.0
18	9516831	T	A	18	9516833	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.266966240972737	0.57
18	9516831	T	C	18	9516833	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.83547407005888E-4	0.038
18	9516831	T	G	18	9516833	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.224884442559055	0.536
18	9516832	T	A	18	9516834	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0824580571450007	0.286
18	9516832	T	C	18	9516834	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00149268004579168	0.03
18	9516832	T	G	18	9516834	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0385951908598895	0.312
18	9516833	T	A	18	9516835	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00401645233229571	0.056
18	9516833	T	C	18	9516835	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.47198611655661E-4	0.002
18	9516833	T	G	18	9516835	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00243198134471333	0.08
18	9516834	C	A	18	9516836	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0110740369131286	0.314
18	9516834	C	G	18	9516836	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00388681239033473	0.174
18	9516834	C	T	18	9516836	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.65740044421416E-4	0.018
18	9516835	T	A	18	9516837	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0275224854429861	0.194
18	9516835	T	C	18	9516837	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.6200109659839E-5	0.002
18	9516835	T	G	18	9516837	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00798383724612315	0.194
18	9516836	T	A	18	9516838	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0534340037955871	0.23
18	9516836	T	C	18	9516838	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.51625217692406E-4	0.002
18	9516836	T	G	18	9516838	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0176027067023108	0.202
18	9516837	T	A	18	9516839	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999537783741858	0.964
18	9516837	T	C	18	9516839	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.47357497274695E-4	0.014
18	9516837	T	G	18	9516839	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0302550792686238	0.342
18	9516838	G	A	18	9516840	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.376874769532591	0.514
18	9516838	G	C	18	9516840	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.62464116227586E-4	0.008
18	9516838	G	T	18	9516840	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.41627070302925E-4	0.014
18	9516839	G	A	18	9516841	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.36721697878503E-4	0.01
18	9516839	G	C	18	9516841	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.15068485494647E-4	0.016
18	9516839	G	T	18	9516841	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.53498117952158E-4	0.042
18	9516840	C	A	18	9516842	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.920585479412431	0.778
18	9516840	C	G	18	9516842	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999684849181348	0.96
18	9516840	C	T	18	9516842	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0153590709365123	0.102
18	9516841	A	C	18	9516843	y	y	splicing	RALBP1(NM_006788:exon3:c.245-2A>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.245-2A>C;ENST00000585015:exon4:c.245-2A>C;ENST00000383432:exon3:c.245-2A>C;ENST00000458039:exon3:c.245-2A>C)	.	.	0.999989917668626	0.928
18	9516841	A	G	18	9516843	y	y	splicing	RALBP1(NM_006788:exon3:c.245-2A>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.245-2A>G;ENST00000585015:exon4:c.245-2A>G;ENST00000383432:exon3:c.245-2A>G;ENST00000458039:exon3:c.245-2A>G)	.	.	0.999989917668626	0.928
18	9516841	A	T	18	9516843	y	y	splicing	RALBP1(NM_006788:exon3:c.245-2A>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.245-2A>T;ENST00000585015:exon4:c.245-2A>T;ENST00000383432:exon3:c.245-2A>T;ENST00000458039:exon3:c.245-2A>T)	.	.	0.999989917668626	0.928
18	9516842	G	A	18	9516844	y	y	splicing	RALBP1(NM_006788:exon3:c.245-1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.245-1G>A;ENST00000585015:exon4:c.245-1G>A;ENST00000383432:exon3:c.245-1G>A;ENST00000458039:exon3:c.245-1G>A)	.	.	0.999981760802075	0.944
18	9516842	G	C	18	9516844	y	y	splicing	RALBP1(NM_006788:exon3:c.245-1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.245-1G>C;ENST00000585015:exon4:c.245-1G>C;ENST00000383432:exon3:c.245-1G>C;ENST00000458039:exon3:c.245-1G>C)	.	.	0.999981760802075	0.944
18	9516842	G	T	18	9516844	y	y	splicing	RALBP1(NM_006788:exon3:c.245-1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.245-1G>T;ENST00000585015:exon4:c.245-1G>T;ENST00000383432:exon3:c.245-1G>T;ENST00000458039:exon3:c.245-1G>T)	.	.	0.999981760802075	0.944
18	9516843	C	A	18	9516845	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon3:c.C245A:p.T82N;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.C245A:p.T82N;ENSG00000017797:ENST00000458039:exon3:c.C245A:p.T82N;ENSG00000017797:ENST00000585015:exon4:c.C245A:p.T82N;ENSG00000017797:ENST00000019317:exon3:c.C245A:p.T82N;	0.932340107307283	0.812
18	9516843	C	G	18	9516845	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon3:c.C245G:p.T82S;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.C245G:p.T82S;ENSG00000017797:ENST00000458039:exon3:c.C245G:p.T82S;ENSG00000017797:ENST00000585015:exon4:c.C245G:p.T82S;ENSG00000017797:ENST00000019317:exon3:c.C245G:p.T82S;	0.943548332479562	0.736
18	9516843	C	T	18	9516845	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon3:c.C245T:p.T82I;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.C245T:p.T82I;ENSG00000017797:ENST00000458039:exon3:c.C245T:p.T82I;ENSG00000017797:ENST00000585015:exon4:c.C245T:p.T82I;ENSG00000017797:ENST00000019317:exon3:c.C245T:p.T82I;	0.994229716898375	0.918
18	9516844	T	A	18	9516846	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon3:c.T246A:p.T82T;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.T246A:p.T82T;ENSG00000017797:ENST00000458039:exon3:c.T246A:p.T82T;ENSG00000017797:ENST00000585015:exon4:c.T246A:p.T82T;ENSG00000017797:ENST00000019317:exon3:c.T246A:p.T82T;	0.00379689301120218	0.074
18	9516844	T	C	18	9516846	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon3:c.T246C:p.T82T;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.T246C:p.T82T;ENSG00000017797:ENST00000458039:exon3:c.T246C:p.T82T;ENSG00000017797:ENST00000585015:exon4:c.T246C:p.T82T;ENSG00000017797:ENST00000019317:exon3:c.T246C:p.T82T;	0.00292228381965371	0.062
18	9516844	T	G	18	9516846	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon3:c.T246G:p.T82T;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.T246G:p.T82T;ENSG00000017797:ENST00000458039:exon3:c.T246G:p.T82T;ENSG00000017797:ENST00000585015:exon4:c.T246G:p.T82T;ENSG00000017797:ENST00000019317:exon3:c.T246G:p.T82T;	0.0024013744052297	0.056
18	9517299	C	A	18	9517301	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon3:c.C701A:p.S234X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon3:c.C701A:p.S234X;ENSG00000017797:ENST00000019317:exon3:c.C701A:p.S234X;	0.914495345076986	0.802
18	9517299	C	G	18	9517301	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon3:c.C701G:p.S234X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon3:c.C701G:p.S234X;ENSG00000017797:ENST00000019317:exon3:c.C701G:p.S234X;	0.960455170449901	0.704
18	9517299	C	T	18	9517301	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon3:c.C701T:p.S234L;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.C701T:p.S234L;ENSG00000017797:ENST00000019317:exon3:c.C701T:p.S234L;	0.999760618397858	0.974
18	9517300	A	C	18	9517302	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon3:c.A702C:p.S234S;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.A702C:p.S234S;ENSG00000017797:ENST00000019317:exon3:c.A702C:p.S234S;	0.999707771043505	0.98
18	9517300	A	G	18	9517302	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon3:c.A702G:p.S234S;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.A702G:p.S234S;ENSG00000017797:ENST00000019317:exon3:c.A702G:p.S234S;	0.999619005555038	0.982
18	9517300	A	T	18	9517302	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon3:c.A702T:p.S234S;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.A702T:p.S234S;ENSG00000017797:ENST00000019317:exon3:c.A702T:p.S234S;	0.999556627546074	0.998
18	9517301	G	A	18	9517303	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon3:c.G703A:p.G235R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.G703A:p.G235R;ENSG00000017797:ENST00000019317:exon3:c.G703A:p.G235R;	0.999987322307821	1.0
18	9517301	G	C	18	9517303	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon3:c.G703C:p.G235R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon3:c.G703C:p.G235R;ENSG00000017797:ENST00000019317:exon3:c.G703C:p.G235R;	0.999995925095857	1.0
18	9517301	G	T	18	9517303	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon3:c.G703T:p.G235X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon3:c.G703T:p.G235X;ENSG00000017797:ENST00000019317:exon3:c.G703T:p.G235X;	0.999989845216487	0.998
18	9517302	G	A	18	9517304	y	y	splicing	RALBP1(NM_006788:exon3:c.703+1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.703+1G>A;ENST00000383432:exon3:c.703+1G>A)	.	.	0.999981760802075	0.92
18	9517302	G	C	18	9517304	y	y	splicing	RALBP1(NM_006788:exon3:c.703+1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.703+1G>C;ENST00000383432:exon3:c.703+1G>C)	.	.	0.999981760802075	0.918
18	9517302	G	T	18	9517304	y	y	splicing	RALBP1(NM_006788:exon3:c.703+1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.703+1G>T;ENST00000383432:exon3:c.703+1G>T)	.	.	0.999981760802075	0.918
18	9517303	T	A	18	9517305	y	y	splicing	RALBP1(NM_006788:exon3:c.703+2T>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.703+2T>A;ENST00000383432:exon3:c.703+2T>A)	.	.	0.999989917668626	0.904
18	9517303	T	C	18	9517305	y	y	splicing	RALBP1(NM_006788:exon3:c.703+2T>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.703+2T>C;ENST00000383432:exon3:c.703+2T>C)	.	.	0.993179459523591	0.626
18	9517303	T	G	18	9517305	y	y	splicing	RALBP1(NM_006788:exon3:c.703+2T>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon3:c.703+2T>G;ENST00000383432:exon3:c.703+2T>G)	.	.	0.999989917668626	0.904
18	9517304	A	C	18	9517306	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999952278972792	0.946
18	9517304	A	G	18	9517306	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.991305078522108	0.932
18	9517304	A	T	18	9517306	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.99992272759996	0.966
18	9517305	C	A	18	9517307	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.7256254448387E-5	0.006
18	9517305	C	G	18	9517307	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.48779139758589E-4	0.058
18	9517305	C	T	18	9517307	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.65191162390454E-4	0.044
18	9517306	T	A	18	9517308	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.95943357942656E-4	0.01
18	9517306	T	C	18	9517308	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.33797592135171E-4	0.008
18	9517306	T	G	18	9517308	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.31347750493605E-4	0.046
18	9517307	G	A	18	9517309	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.29662933193814E-4	0.064
18	9517307	G	C	18	9517309	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00123031015657061	0.062
18	9517307	G	T	18	9517309	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.0162583887839E-4	0.08
18	9517308	G	A	18	9517310	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.60651157641801E-4	0.042
18	9517308	G	C	18	9517310	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.0137201333722E-4	0.018
18	9517308	G	T	18	9517310	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.13860528938899E-4	0.012
18	9517309	G	A	18	9517311	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.0487281371643E-4	0.058
18	9517309	G	C	18	9517311	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.37632713475113E-4	0.006
18	9517309	G	T	18	9517311	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.22751085239585E-5	0.002
18	9522146	G	A	18	9522148	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.03778019267543E-4	0.062
18	9522146	G	C	18	9522148	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.14487445738629E-5	0.026
18	9522146	G	T	18	9522148	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.57206477695349E-5	0.032
18	9522147	A	C	18	9522149	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.98816221118519E-4	0.018
18	9522147	A	G	18	9522149	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.50820402312799E-4	0.034
18	9522147	A	T	18	9522149	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00121532344842233	0.102
18	9522148	A	C	18	9522150	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.12518533721543E-5	0.036
18	9522148	A	G	18	9522150	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.97720086932371	0.948
18	9522148	A	T	18	9522150	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.23608452679008E-5	0.016
18	9522149	T	A	18	9522151	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999756417547244	0.926
18	9522149	T	C	18	9522151	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0188369842535009	0.18
18	9522149	T	G	18	9522151	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999783997892854	0.94
18	9522150	G	A	18	9522152	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.39293248542933E-4	0.054
18	9522150	G	C	18	9522152	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.45837262486736E-4	0.012
18	9522150	G	T	18	9522152	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.45837262486736E-4	0.026
18	9522151	T	A	18	9522153	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.853987499561089	0.696
18	9522151	T	C	18	9522153	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00963631751084068	0.1
18	9522151	T	G	18	9522153	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.88345025310738	0.678
18	9522152	T	A	18	9522154	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.597981616050963	0.64
18	9522152	T	C	18	9522154	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.19282067916502E-4	0.048
18	9522152	T	G	18	9522154	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.597981616050963	0.632
18	9522153	T	A	18	9522155	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.838712474315016	0.704
18	9522153	T	C	18	9522155	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00576059539586231	0.198
18	9522153	T	G	18	9522155	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.973581228421086	0.742
18	9522154	T	A	18	9522156	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.19366584324479E-4	0.056
18	9522154	T	C	18	9522156	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.97582496931819E-4	0.062
18	9522154	T	G	18	9522156	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.73005716711767E-4	0.056
18	9522155	A	C	18	9522157	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.06559877692857E-5	0.004
18	9522155	A	G	18	9522157	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00548092875674009	0.2
18	9522155	A	T	18	9522157	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.3968295765056E-5	0.0
18	9522156	A	C	18	9522158	y	y	splicing	RALBP1(NM_006788:exon4:c.704-2A>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.704-2A>C;ENST00000383432:exon4:c.704-2A>C)	.	.	0.999933834912627	0.882
18	9522156	A	G	18	9522158	y	y	splicing	RALBP1(NM_006788:exon4:c.704-2A>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.704-2A>G;ENST00000383432:exon4:c.704-2A>G)	.	.	0.99994515364607	0.884
18	9522156	A	T	18	9522158	y	y	splicing	RALBP1(NM_006788:exon4:c.704-2A>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.704-2A>T;ENST00000383432:exon4:c.704-2A>T)	.	.	0.999933834912627	0.884
18	9522157	G	A	18	9522159	y	y	splicing	RALBP1(NM_006788:exon4:c.704-1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.704-1G>A;ENST00000383432:exon4:c.704-1G>A)	.	.	0.999979910738533	0.878
18	9522157	G	C	18	9522159	y	y	splicing	RALBP1(NM_006788:exon4:c.704-1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.704-1G>C;ENST00000383432:exon4:c.704-1G>C)	.	.	0.999979910738533	0.878
18	9522157	G	T	18	9522159	y	y	splicing	RALBP1(NM_006788:exon4:c.704-1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.704-1G>T;ENST00000383432:exon4:c.704-1G>T)	.	.	0.999979910738533	0.878
18	9522158	G	A	18	9522160	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.G704A:p.G235E;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.G704A:p.G235E;ENSG00000017797:ENST00000019317:exon4:c.G704A:p.G235E;	0.999669748982533	0.876
18	9522158	G	C	18	9522160	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.G704C:p.G235A;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.G704C:p.G235A;ENSG00000017797:ENST00000019317:exon4:c.G704C:p.G235A;	0.999858014481406	0.898
18	9522158	G	T	18	9522160	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.G704T:p.G235V;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.G704T:p.G235V;ENSG00000017797:ENST00000019317:exon4:c.G704T:p.G235V;	0.999927949552548	0.938
18	9522159	A	C	18	9522161	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon4:c.A705C:p.G235G;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.A705C:p.G235G;ENSG00000017797:ENST00000019317:exon4:c.A705C:p.G235G;	0.00160112588614455	0.072
18	9522159	A	G	18	9522161	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon4:c.A705G:p.G235G;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.A705G:p.G235G;ENSG00000017797:ENST00000019317:exon4:c.A705G:p.G235G;	1.06579592922629E-4	0.11
18	9522159	A	T	18	9522161	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon4:c.A705T:p.G235G;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.A705T:p.G235G;ENSG00000017797:ENST00000019317:exon4:c.A705T:p.G235G;	3.1209121570496E-5	0.034
18	9522505	C	A	18	9522507	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.C1051A:p.Q351K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.C1051A:p.Q351K;ENSG00000017797:ENST00000019317:exon4:c.C1051A:p.Q351K;	0.943111955341928	0.802
18	9522505	C	G	18	9522507	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.C1051G:p.Q351E;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.C1051G:p.Q351E;ENSG00000017797:ENST00000019317:exon4:c.C1051G:p.Q351E;	0.939487425898962	0.684
18	9522505	C	T	18	9522507	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon4:c.C1051T:p.Q351X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon4:c.C1051T:p.Q351X;ENSG00000017797:ENST00000019317:exon4:c.C1051T:p.Q351X;	0.999695011924865	0.942
18	9522506	A	C	18	9522508	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.A1052C:p.Q351P;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.A1052C:p.Q351P;ENSG00000017797:ENST00000019317:exon4:c.A1052C:p.Q351P;	0.999844486719451	0.998
18	9522506	A	G	18	9522508	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.A1052G:p.Q351R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.A1052G:p.Q351R;ENSG00000017797:ENST00000019317:exon4:c.A1052G:p.Q351R;	0.999938151101861	0.998
18	9522506	A	T	18	9522508	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.A1052T:p.Q351L;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.A1052T:p.Q351L;ENSG00000017797:ENST00000019317:exon4:c.A1052T:p.Q351L;	0.999946454723563	0.982
18	9522507	G	A	18	9522509	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon4:c.G1053A:p.Q351Q;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.G1053A:p.Q351Q;ENSG00000017797:ENST00000019317:exon4:c.G1053A:p.Q351Q;	0.999970720275824	0.974
18	9522507	G	C	18	9522509	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.G1053C:p.Q351H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.G1053C:p.Q351H;ENSG00000017797:ENST00000019317:exon4:c.G1053C:p.Q351H;	0.999997021997492	0.998
18	9522507	G	T	18	9522509	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon4:c.G1053T:p.Q351H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon4:c.G1053T:p.Q351H;ENSG00000017797:ENST00000019317:exon4:c.G1053T:p.Q351H;	0.999985371018412	1.0
18	9522508	G	A	18	9522510	y	y	splicing	RALBP1(NM_006788:exon4:c.1053+1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.1053+1G>A;ENST00000383432:exon4:c.1053+1G>A)	.	.	0.999990361384395	0.938
18	9522508	G	C	18	9522510	y	y	splicing	RALBP1(NM_006788:exon4:c.1053+1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.1053+1G>C;ENST00000383432:exon4:c.1053+1G>C)	.	.	0.999990361384395	0.938
18	9522508	G	T	18	9522510	y	y	splicing	RALBP1(NM_006788:exon4:c.1053+1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.1053+1G>T;ENST00000383432:exon4:c.1053+1G>T)	.	.	0.999990361384395	0.938
18	9522509	T	A	18	9522511	y	y	splicing	RALBP1(NM_006788:exon4:c.1053+2T>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.1053+2T>A;ENST00000383432:exon4:c.1053+2T>A)	.	.	0.999988247793601	0.93
18	9522509	T	C	18	9522511	y	y	splicing	RALBP1(NM_006788:exon4:c.1053+2T>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.1053+2T>C;ENST00000383432:exon4:c.1053+2T>C)	.	.	0.992783534660112	0.666
18	9522509	T	G	18	9522511	y	y	splicing	RALBP1(NM_006788:exon4:c.1053+2T>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon4:c.1053+2T>G;ENST00000383432:exon4:c.1053+2T>G)	.	.	0.999988247793601	0.93
18	9522510	A	C	18	9522512	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999952192476286	0.98
18	9522510	A	G	18	9522512	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999545082930731	0.962
18	9522510	A	T	18	9522512	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999289551951896	0.976
18	9522511	C	A	18	9522513	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.19869339569927E-5	0.014
18	9522511	C	G	18	9522513	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.64445584010111E-5	0.214
18	9522511	C	T	18	9522513	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.47392336716769E-4	0.11
18	9522512	A	C	18	9522514	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.0998101075491E-4	0.016
18	9522512	A	G	18	9522514	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.48432973065689E-5	0.004
18	9522512	A	T	18	9522514	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.01436337145033E-4	0.004
18	9522513	T	A	18	9522515	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00324615249689164	0.234
18	9522513	T	C	18	9522515	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0020772931932857	0.226
18	9522513	T	G	18	9522515	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.45842341776415E-4	0.216
18	9522514	G	A	18	9522516	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0150106248805826	0.116
18	9522514	G	C	18	9522516	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00646976712026448	0.106
18	9522514	G	T	18	9522516	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00327451117831367	0.136
18	9522515	G	A	18	9522517	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00408890343326421	0.038
18	9522515	G	C	18	9522517	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00297952217653512	0.02
18	9522515	G	T	18	9522517	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00297952217653512	0.016
18	9524580	T	A	18	9524582	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.7951324167987E-5	0.154
18	9524580	T	C	18	9524582	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.93598034129615E-5	0.034
18	9524580	T	G	18	9524582	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.36325719441976E-5	0.092
18	9524581	T	A	18	9524583	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.69532939590368E-4	0.272
18	9524581	T	C	18	9524583	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.25230210571555E-4	0.08
18	9524581	T	G	18	9524583	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.88638777901905E-4	0.182
18	9524582	T	A	18	9524584	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.69947099273789E-5	0.108
18	9524582	T	C	18	9524584	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.56366255720615E-6	0.07
18	9524582	T	G	18	9524584	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.43167594783156E-5	0.106
18	9524583	T	A	18	9524585	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.76202778491535E-5	0.07
18	9524583	T	C	18	9524585	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.35619201495175E-6	0.03
18	9524583	T	G	18	9524585	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.65986705411706E-5	0.078
18	9524584	T	A	18	9524586	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.011669561812136	0.08
18	9524584	T	C	18	9524586	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.84317199318658E-5	0.0
18	9524584	T	G	18	9524586	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.47630852821966E-4	0.052
18	9524585	T	A	18	9524587	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.16814408626696E-4	0.04
18	9524585	T	C	18	9524587	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.75935673454771E-5	0.002
18	9524585	T	G	18	9524587	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.03285631515428E-4	0.04
18	9524586	T	A	18	9524588	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00137819443315966	0.16
18	9524586	T	C	18	9524588	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.38502193271958E-5	0.004
18	9524586	T	G	18	9524588	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00131780315904416	0.102
18	9524587	C	A	18	9524589	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00165009632121951	0.146
18	9524587	C	G	18	9524589	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00273993209169835	0.092
18	9524587	C	T	18	9524589	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.98462706190328E-5	0.008
18	9524588	T	A	18	9524590	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.66498628595945E-4	0.006
18	9524588	T	C	18	9524590	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.1001634546885E-4	0.002
18	9524588	T	G	18	9524590	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.96596453137689E-4	0.002
18	9524589	T	A	18	9524591	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0616586972606963	0.312
18	9524589	T	C	18	9524591	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.22673772390621E-4	0.012
18	9524589	T	G	18	9524591	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999249887030607	0.758
18	9524590	A	C	18	9524592	y	y	splicing	RALBP1(NM_006788:exon5:c.1054-2A>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1054-2A>C;ENST00000383432:exon5:c.1054-2A>C)	.	.	0.999988247793601	0.928
18	9524590	A	G	18	9524592	y	y	splicing	RALBP1(NM_006788:exon5:c.1054-2A>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1054-2A>G;ENST00000383432:exon5:c.1054-2A>G)	.	.	0.999988247793601	0.928
18	9524590	A	T	18	9524592	y	y	splicing	RALBP1(NM_006788:exon5:c.1054-2A>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1054-2A>T;ENST00000383432:exon5:c.1054-2A>T)	.	.	0.999988247793601	0.928
18	9524591	G	A	18	9524593	y	y	splicing	RALBP1(NM_006788:exon5:c.1054-1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1054-1G>A;ENST00000383432:exon5:c.1054-1G>A)	.	.	0.999985532734767	0.936
18	9524591	G	C	18	9524593	y	y	splicing	RALBP1(NM_006788:exon5:c.1054-1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1054-1G>C;ENST00000383432:exon5:c.1054-1G>C)	.	.	0.999985532734767	0.936
18	9524591	G	T	18	9524593	y	y	splicing	RALBP1(NM_006788:exon5:c.1054-1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1054-1G>T;ENST00000383432:exon5:c.1054-1G>T)	.	.	0.999985532734767	0.936
18	9524592	A	C	18	9524594	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.A1054C:p.I352L;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.A1054C:p.I352L;ENSG00000017797:ENST00000019317:exon5:c.A1054C:p.I352L;	0.308942930250682	0.63
18	9524592	A	G	18	9524594	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.A1054G:p.I352V;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.A1054G:p.I352V;ENSG00000017797:ENST00000019317:exon5:c.A1054G:p.I352V;	0.595939744813009	0.722
18	9524592	A	T	18	9524594	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.A1054T:p.I352F;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.A1054T:p.I352F;ENSG00000017797:ENST00000019317:exon5:c.A1054T:p.I352F;	0.308942930250682	0.574
18	9524593	T	A	18	9524595	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.T1055A:p.I352N;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.T1055A:p.I352N;ENSG00000017797:ENST00000019317:exon5:c.T1055A:p.I352N;	0.188513008023444	0.594
18	9524593	T	C	18	9524595	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.T1055C:p.I352T;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.T1055C:p.I352T;ENSG00000017797:ENST00000019317:exon5:c.T1055C:p.I352T;	0.22279564386603	0.592
18	9524593	T	G	18	9524595	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.T1055G:p.I352S;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.T1055G:p.I352S;ENSG00000017797:ENST00000019317:exon5:c.T1055G:p.I352S;	0.196523169476831	0.588
18	9524751	C	A	18	9524753	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.C1213A:p.Q405K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.C1213A:p.Q405K;ENSG00000017797:ENST00000019317:exon5:c.C1213A:p.Q405K;	0.90465376990021	0.798
18	9524751	C	G	18	9524753	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.C1213G:p.Q405E;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.C1213G:p.Q405E;ENSG00000017797:ENST00000019317:exon5:c.C1213G:p.Q405E;	0.925444924915544	0.62
18	9524751	C	T	18	9524753	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon5:c.C1213T:p.Q405X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon5:c.C1213T:p.Q405X;ENSG00000017797:ENST00000019317:exon5:c.C1213T:p.Q405X;	0.999344783298582	0.886
18	9524752	A	C	18	9524754	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.A1214C:p.Q405P;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.A1214C:p.Q405P;ENSG00000017797:ENST00000019317:exon5:c.A1214C:p.Q405P;	0.99905229173645	0.968
18	9524752	A	G	18	9524754	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.A1214G:p.Q405R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.A1214G:p.Q405R;ENSG00000017797:ENST00000019317:exon5:c.A1214G:p.Q405R;	0.999869818046695	1.0
18	9524752	A	T	18	9524754	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.A1214T:p.Q405L;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.A1214T:p.Q405L;ENSG00000017797:ENST00000019317:exon5:c.A1214T:p.Q405L;	0.999858793092308	0.998
18	9524753	G	A	18	9524755	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon5:c.G1215A:p.Q405Q;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.G1215A:p.Q405Q;ENSG00000017797:ENST00000019317:exon5:c.G1215A:p.Q405Q;	0.999985006666957	0.996
18	9524753	G	C	18	9524755	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.G1215C:p.Q405H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.G1215C:p.Q405H;ENSG00000017797:ENST00000019317:exon5:c.G1215C:p.Q405H;	0.999997758162875	0.998
18	9524753	G	T	18	9524755	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon5:c.G1215T:p.Q405H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon5:c.G1215T:p.Q405H;ENSG00000017797:ENST00000019317:exon5:c.G1215T:p.Q405H;	0.999996378755442	0.984
18	9524754	G	A	18	9524756	y	y	splicing	RALBP1(NM_006788:exon5:c.1215+1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1215+1G>A;ENST00000383432:exon5:c.1215+1G>A)	.	.	0.999990361384395	0.938
18	9524754	G	C	18	9524756	y	y	splicing	RALBP1(NM_006788:exon5:c.1215+1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1215+1G>C;ENST00000383432:exon5:c.1215+1G>C)	.	.	0.999990361384395	0.938
18	9524754	G	T	18	9524756	y	y	splicing	RALBP1(NM_006788:exon5:c.1215+1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1215+1G>T;ENST00000383432:exon5:c.1215+1G>T)	.	.	0.999990361384395	0.938
18	9524755	T	A	18	9524757	y	y	splicing	RALBP1(NM_006788:exon5:c.1215+2T>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1215+2T>A;ENST00000383432:exon5:c.1215+2T>A)	.	.	0.999988247793601	0.93
18	9524755	T	C	18	9524757	y	y	splicing	RALBP1(NM_006788:exon5:c.1215+2T>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1215+2T>C;ENST00000383432:exon5:c.1215+2T>C)	.	.	0.999929727175276	0.866
18	9524755	T	G	18	9524757	y	y	splicing	RALBP1(NM_006788:exon5:c.1215+2T>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon5:c.1215+2T>G;ENST00000383432:exon5:c.1215+2T>G)	.	.	0.999988247793601	0.93
18	9524756	G	A	18	9524758	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.60340158398536E-5	0.14
18	9524756	G	C	18	9524758	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.110492350756204	0.302
18	9524756	G	T	18	9524758	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0847055089108657	0.33
18	9524757	T	A	18	9524759	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.37857985089632E-5	0.132
18	9524757	T	C	18	9524759	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0011391503351298	0.194
18	9524757	T	G	18	9524759	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.31577664701953E-5	0.128
18	9524758	G	A	18	9524760	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999775289627195	0.906
18	9524758	G	C	18	9524760	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999961391238168	0.926
18	9524758	G	T	18	9524760	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999957129315099	0.866
18	9524759	T	A	18	9524761	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.980240438564608	0.83
18	9524759	T	C	18	9524761	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.943086026791378	0.54
18	9524759	T	G	18	9524761	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.920899681601573	0.452
18	9524760	G	A	18	9524762	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.990201249154328	0.872
18	9524760	G	C	18	9524762	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.990201249154328	0.88
18	9524760	G	T	18	9524762	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.993013591076851	0.786
18	9524761	C	A	18	9524763	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.65027606092784E-5	0.002
18	9524761	C	G	18	9524763	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.52890137805645E-4	0.08
18	9524761	C	T	18	9524763	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.13679482459869E-5	0.004
18	9525706	T	A	18	9525708	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.124417305075257	0.282
18	9525706	T	C	18	9525708	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.80356705111149E-4	0.008
18	9525706	T	G	18	9525708	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999957684182338	0.97
18	9525707	T	A	18	9525709	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.998443639037148	0.892
18	9525707	T	C	18	9525709	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.495736066388511	0.42
18	9525707	T	G	18	9525709	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.99428198408014	0.792
18	9525708	T	A	18	9525710	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999979386299899	0.968
18	9525708	T	C	18	9525710	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.051073614904567	0.352
18	9525708	T	G	18	9525710	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.998585780024888	0.906
18	9525709	G	A	18	9525711	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.13531554813518E-4	0.01
18	9525709	G	C	18	9525711	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.95360044302003E-5	0.0
18	9525709	G	T	18	9525711	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.56334727131718E-5	0.0
18	9525710	C	A	18	9525712	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.00694632826165E-4	0.062
18	9525710	C	G	18	9525712	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00316389099659625	0.088
18	9525710	C	T	18	9525712	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.98852526353069E-5	0.006
18	9525711	T	A	18	9525713	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.906578926216721	0.642
18	9525711	T	C	18	9525713	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.18784677110642E-4	0.09
18	9525711	T	G	18	9525713	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.877909127044763	0.552
18	9525712	T	A	18	9525714	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.519453275909089	0.746
18	9525712	T	C	18	9525714	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.23320047913908E-4	0.012
18	9525712	T	G	18	9525714	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.609801036318459	0.758
18	9525713	T	A	18	9525715	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.636246155572961	0.49
18	9525713	T	C	18	9525715	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00175575101336211	0.024
18	9525713	T	G	18	9525715	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.629817904379998	0.47
18	9525714	C	A	18	9525716	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.51624429888251E-4	0.04
18	9525714	C	G	18	9525716	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.49746421044819E-5	0.022
18	9525714	C	T	18	9525716	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.08374712246491E-4	0.002
18	9525715	T	A	18	9525717	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0111498666718907	0.264
18	9525715	T	C	18	9525717	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.69778710730215E-4	0.004
18	9525715	T	G	18	9525717	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.407947132522836	0.632
18	9525716	A	C	18	9525718	y	y	splicing	RALBP1(NM_006788:exon6:c.1216-2A>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1216-2A>C;ENST00000383432:exon6:c.1216-2A>C)	.	.	0.999989917668626	0.926
18	9525716	A	G	18	9525718	y	y	splicing	RALBP1(NM_006788:exon6:c.1216-2A>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1216-2A>G;ENST00000383432:exon6:c.1216-2A>G)	.	.	0.999989917668626	0.926
18	9525716	A	T	18	9525718	y	y	splicing	RALBP1(NM_006788:exon6:c.1216-2A>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1216-2A>T;ENST00000383432:exon6:c.1216-2A>T)	.	.	0.999989917668626	0.926
18	9525717	G	A	18	9525719	y	y	splicing	RALBP1(NM_006788:exon6:c.1216-1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1216-1G>A;ENST00000383432:exon6:c.1216-1G>A)	.	.	0.999981760802075	0.938
18	9525717	G	C	18	9525719	y	y	splicing	RALBP1(NM_006788:exon6:c.1216-1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1216-1G>C;ENST00000383432:exon6:c.1216-1G>C)	.	.	0.999981760802075	0.938
18	9525717	G	T	18	9525719	y	y	splicing	RALBP1(NM_006788:exon6:c.1216-1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1216-1G>T;ENST00000383432:exon6:c.1216-1G>T)	.	.	0.999981760802075	0.938
18	9525718	G	A	18	9525720	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.G1216A:p.E406K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.G1216A:p.E406K;ENSG00000017797:ENST00000019317:exon6:c.G1216A:p.E406K;	0.999348474823664	0.928
18	9525718	G	C	18	9525720	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.G1216C:p.E406Q;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.G1216C:p.E406Q;ENSG00000017797:ENST00000019317:exon6:c.G1216C:p.E406Q;	0.99980442533566	0.978
18	9525718	G	T	18	9525720	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon6:c.G1216T:p.E406X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon6:c.G1216T:p.E406X;ENSG00000017797:ENST00000019317:exon6:c.G1216T:p.E406X;	0.99992274210495	0.99
18	9525719	A	C	18	9525721	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.A1217C:p.E406A;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.A1217C:p.E406A;ENSG00000017797:ENST00000019317:exon6:c.A1217C:p.E406A;	0.858486322517717	0.832
18	9525719	A	G	18	9525721	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.A1217G:p.E406G;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.A1217G:p.E406G;ENSG00000017797:ENST00000019317:exon6:c.A1217G:p.E406G;	0.815014876247017	0.71
18	9525719	A	T	18	9525721	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.A1217T:p.E406V;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.A1217T:p.E406V;ENSG00000017797:ENST00000019317:exon6:c.A1217T:p.E406V;	0.762173138305414	0.752
18	9525847	C	A	18	9525849	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.C1345A:p.Q449K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.C1345A:p.Q449K;ENSG00000017797:ENST00000019317:exon6:c.C1345A:p.Q449K;	0.932594012519866	0.758
18	9525847	C	G	18	9525849	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.C1345G:p.Q449E;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.C1345G:p.Q449E;ENSG00000017797:ENST00000019317:exon6:c.C1345G:p.Q449E;	0.766888224320208	0.494
18	9525847	C	T	18	9525849	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon6:c.C1345T:p.Q449X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon6:c.C1345T:p.Q449X;ENSG00000017797:ENST00000019317:exon6:c.C1345T:p.Q449X;	0.994420796739019	0.806
18	9525848	A	C	18	9525850	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.A1346C:p.Q449P;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.A1346C:p.Q449P;ENSG00000017797:ENST00000019317:exon6:c.A1346C:p.Q449P;	0.989669828017497	0.834
18	9525848	A	G	18	9525850	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.A1346G:p.Q449R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.A1346G:p.Q449R;ENSG00000017797:ENST00000019317:exon6:c.A1346G:p.Q449R;	0.995619002808467	0.932
18	9525848	A	T	18	9525850	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.A1346T:p.Q449L;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.A1346T:p.Q449L;ENSG00000017797:ENST00000019317:exon6:c.A1346T:p.Q449L;	0.993556543210076	0.786
18	9525849	G	A	18	9525851	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon6:c.G1347A:p.Q449Q;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.G1347A:p.Q449Q;ENSG00000017797:ENST00000019317:exon6:c.G1347A:p.Q449Q;	0.414895625848493	0.398
18	9525849	G	C	18	9525851	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.G1347C:p.Q449H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.G1347C:p.Q449H;ENSG00000017797:ENST00000019317:exon6:c.G1347C:p.Q449H;	0.985588386963406	0.554
18	9525849	G	T	18	9525851	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon6:c.G1347T:p.Q449H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon6:c.G1347T:p.Q449H;ENSG00000017797:ENST00000019317:exon6:c.G1347T:p.Q449H;	0.988804383196109	0.524
18	9525850	G	A	18	9525852	y	y	splicing	RALBP1(NM_006788:exon6:c.1347+1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1347+1G>A;ENST00000383432:exon6:c.1347+1G>A)	.	.	0.999981760802075	0.94
18	9525850	G	C	18	9525852	y	y	splicing	RALBP1(NM_006788:exon6:c.1347+1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1347+1G>C;ENST00000383432:exon6:c.1347+1G>C)	.	.	0.999981760802075	0.938
18	9525850	G	T	18	9525852	y	y	splicing	RALBP1(NM_006788:exon6:c.1347+1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1347+1G>T;ENST00000383432:exon6:c.1347+1G>T)	.	.	0.999981760802075	0.94
18	9525851	T	A	18	9525853	y	y	splicing	RALBP1(NM_006788:exon6:c.1347+2T>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1347+2T>A;ENST00000383432:exon6:c.1347+2T>A)	.	.	0.999989917668626	0.926
18	9525851	T	C	18	9525853	y	y	splicing	RALBP1(NM_006788:exon6:c.1347+2T>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1347+2T>C;ENST00000383432:exon6:c.1347+2T>C)	.	.	0.999939711763648	0.85
18	9525851	T	G	18	9525853	y	y	splicing	RALBP1(NM_006788:exon6:c.1347+2T>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon6:c.1347+2T>G;ENST00000383432:exon6:c.1347+2T>G)	.	.	0.999989917668626	0.926
18	9525852	G	A	18	9525854	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.04901779129404E-4	0.006
18	9525852	G	C	18	9525854	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.563229037579351	0.506
18	9525852	G	T	18	9525854	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.208422159990764	0.422
18	9525853	A	C	18	9525855	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0613673224690839	0.33
18	9525853	A	G	18	9525855	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.158708507601083	0.328
18	9525853	A	T	18	9525855	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.136875772641732	0.278
18	9525854	G	A	18	9525856	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.990443537168751	0.958
18	9525854	G	C	18	9525856	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.993547932244576	0.91
18	9525854	G	T	18	9525856	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.997747491888348	0.914
18	9525855	T	A	18	9525857	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.252005724605576	0.4
18	9525855	T	C	18	9525857	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.215815652347217	0.368
18	9525855	T	G	18	9525857	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.02361535625599	0.25
18	9525856	T	A	18	9525858	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.95926651422279E-5	0.0
18	9525856	T	C	18	9525858	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.01360650998576E-5	0.0
18	9525856	T	G	18	9525858	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.01360650998576E-5	0.0
18	9525857	A	C	18	9525859	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.24448830120472E-5	0.0
18	9525857	A	G	18	9525859	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.79314207206413E-5	0.0
18	9525857	A	T	18	9525859	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.92415098712774E-5	0.0
18	9530820	C	A	18	9530822	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0010410540788005	0.052
18	9530820	C	G	18	9530822	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.30538429330185E-4	0.026
18	9530820	C	T	18	9530822	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.29203489347423E-5	0.0
18	9530821	T	A	18	9530823	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.387757627593697	0.406
18	9530821	T	C	18	9530823	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.002388257824485	0.106
18	9530821	T	G	18	9530823	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.280450653390356	0.45
18	9530822	T	A	18	9530824	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0013619603860585	0.108
18	9530822	T	C	18	9530824	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.54335682766867E-5	0.0
18	9530822	T	G	18	9530824	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00277521533578678	0.148
18	9530823	A	C	18	9530825	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.45620822029638E-4	0.012
18	9530823	A	G	18	9530825	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.13388066637948E-5	0.018
18	9530823	A	T	18	9530825	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.40743879757589E-5	0.01
18	9530824	T	A	18	9530826	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0257279709912346	0.066
18	9530824	T	C	18	9530826	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.09453192931565E-5	0.0
18	9530824	T	G	18	9530826	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999919573763905	0.996
18	9530825	T	A	18	9530827	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.641007795414516	0.394
18	9530825	T	C	18	9530827	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.52241777736513E-4	0.006
18	9530825	T	G	18	9530827	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.297921432426768	0.32
18	9530826	T	A	18	9530828	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.998995618872792	0.944
18	9530826	T	C	18	9530828	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.66331795631171E-5	0.0
18	9530826	T	G	18	9530828	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00337138109689231	0.154
18	9530827	G	A	18	9530829	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.15633564172332E-5	0.0
18	9530827	G	C	18	9530829	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.32280475540351E-5	0.006
18	9530827	G	T	18	9530829	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.61437620758181E-5	0.042
18	9530828	A	C	18	9530830	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.1194337103757E-5	0.0
18	9530828	A	G	18	9530830	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.05558948380893E-4	0.002
18	9530828	A	T	18	9530830	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.08112379700122E-4	0.002
18	9530829	C	A	18	9530831	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.897751232621001	0.584
18	9530829	C	G	18	9530831	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.99957702249052	0.966
18	9530829	C	T	18	9530831	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00509764505261033	0.036
18	9530830	A	C	18	9530832	y	y	splicing	RALBP1(NM_006788:exon7:c.1348-2A>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1348-2A>C;ENST00000383432:exon7:c.1348-2A>C)	.	.	0.999988247793601	0.93
18	9530830	A	G	18	9530832	y	y	splicing	RALBP1(NM_006788:exon7:c.1348-2A>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1348-2A>G;ENST00000383432:exon7:c.1348-2A>G)	.	.	0.999988247793601	0.93
18	9530830	A	T	18	9530832	y	y	splicing	RALBP1(NM_006788:exon7:c.1348-2A>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1348-2A>T;ENST00000383432:exon7:c.1348-2A>T)	.	.	0.999988247793601	0.93
18	9530831	G	A	18	9530833	y	y	splicing	RALBP1(NM_006788:exon7:c.1348-1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1348-1G>A;ENST00000383432:exon7:c.1348-1G>A)	.	.	0.999990361384395	0.936
18	9530831	G	C	18	9530833	y	y	splicing	RALBP1(NM_006788:exon7:c.1348-1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1348-1G>C;ENST00000383432:exon7:c.1348-1G>C)	.	.	0.999990361384395	0.936
18	9530831	G	T	18	9530833	y	y	splicing	RALBP1(NM_006788:exon7:c.1348-1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1348-1G>T;ENST00000383432:exon7:c.1348-1G>T)	.	.	0.999990361384395	0.936
18	9530832	G	A	18	9530834	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.G1348A:p.E450K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.G1348A:p.E450K;ENSG00000017797:ENST00000019317:exon7:c.G1348A:p.E450K;	0.882956052666729	0.574
18	9530832	G	C	18	9530834	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.G1348C:p.E450Q;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.G1348C:p.E450Q;ENSG00000017797:ENST00000019317:exon7:c.G1348C:p.E450Q;	0.926073277006323	0.632
18	9530832	G	T	18	9530834	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon7:c.G1348T:p.E450X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon7:c.G1348T:p.E450X;ENSG00000017797:ENST00000019317:exon7:c.G1348T:p.E450X;	0.999017807346675	0.896
18	9530833	A	C	18	9530835	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.A1349C:p.E450A;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.A1349C:p.E450A;ENSG00000017797:ENST00000019317:exon7:c.A1349C:p.E450A;	7.1286507081534E-4	0.104
18	9530833	A	G	18	9530835	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.A1349G:p.E450G;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.A1349G:p.E450G;ENSG00000017797:ENST00000019317:exon7:c.A1349G:p.E450G;	5.19918077570525E-4	0.022
18	9530833	A	T	18	9530835	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.A1349T:p.E450V;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.A1349T:p.E450V;ENSG00000017797:ENST00000019317:exon7:c.A1349T:p.E450V;	0.00807197633781015	0.146
18	9530937	C	A	18	9530939	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.C1453A:p.Q485K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.C1453A:p.Q485K;ENSG00000017797:ENST00000019317:exon7:c.C1453A:p.Q485K;	0.00302468944223339	0.182
18	9530937	C	G	18	9530939	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.C1453G:p.Q485E;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.C1453G:p.Q485E;ENSG00000017797:ENST00000019317:exon7:c.C1453G:p.Q485E;	3.2749122874557E-4	0.098
18	9530937	C	T	18	9530939	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon7:c.C1453T:p.Q485X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon7:c.C1453T:p.Q485X;ENSG00000017797:ENST00000019317:exon7:c.C1453T:p.Q485X;	0.986722136313718	0.764
18	9530938	A	C	18	9530940	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.A1454C:p.Q485P;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.A1454C:p.Q485P;ENSG00000017797:ENST00000019317:exon7:c.A1454C:p.Q485P;	0.999883591598353	0.996
18	9530938	A	G	18	9530940	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.A1454G:p.Q485R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.A1454G:p.Q485R;ENSG00000017797:ENST00000019317:exon7:c.A1454G:p.Q485R;	0.99989212847085	0.994
18	9530938	A	T	18	9530940	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.A1454T:p.Q485L;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.A1454T:p.Q485L;ENSG00000017797:ENST00000019317:exon7:c.A1454T:p.Q485L;	0.999699810712334	0.998
18	9530939	G	A	18	9530941	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon7:c.G1455A:p.Q485Q;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.G1455A:p.Q485Q;ENSG00000017797:ENST00000019317:exon7:c.G1455A:p.Q485Q;	0.999941131337618	0.982
18	9530939	G	C	18	9530941	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.G1455C:p.Q485H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.G1455C:p.Q485H;ENSG00000017797:ENST00000019317:exon7:c.G1455C:p.Q485H;	0.999979039574774	0.986
18	9530939	G	T	18	9530941	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon7:c.G1455T:p.Q485H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon7:c.G1455T:p.Q485H;ENSG00000017797:ENST00000019317:exon7:c.G1455T:p.Q485H;	0.999760041383248	0.988
18	9530940	G	A	18	9530942	y	y	splicing	RALBP1(NM_006788:exon7:c.1455+1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1455+1G>A;ENST00000383432:exon7:c.1455+1G>A)	.	.	0.99995545544995	0.948
18	9530940	G	C	18	9530942	y	y	splicing	RALBP1(NM_006788:exon7:c.1455+1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1455+1G>C;ENST00000383432:exon7:c.1455+1G>C)	.	.	0.99995545544995	0.948
18	9530940	G	T	18	9530942	y	y	splicing	RALBP1(NM_006788:exon7:c.1455+1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1455+1G>T;ENST00000383432:exon7:c.1455+1G>T)	.	.	0.99995545544995	0.948
18	9530941	T	A	18	9530943	y	y	splicing	RALBP1(NM_006788:exon7:c.1455+2T>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1455+2T>A;ENST00000383432:exon7:c.1455+2T>A)	.	.	0.999891894399488	0.844
18	9530941	T	C	18	9530943	y	y	splicing	RALBP1(NM_006788:exon7:c.1455+2T>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1455+2T>C;ENST00000383432:exon7:c.1455+2T>C)	.	.	0.871276305740864	0.562
18	9530941	T	G	18	9530943	y	y	splicing	RALBP1(NM_006788:exon7:c.1455+2T>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon7:c.1455+2T>G;ENST00000383432:exon7:c.1455+2T>G)	.	.	0.999869753223382	0.804
18	9530942	A	C	18	9530944	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.998421957537866	0.736
18	9530942	A	G	18	9530944	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0728481727564155	0.428
18	9530942	A	T	18	9530944	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999491829744143	0.736
18	9530943	A	C	18	9530945	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0616778537980141	0.372
18	9530943	A	G	18	9530945	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.272166974676515	0.342
18	9530943	A	T	18	9530945	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.441661335325091	0.396
18	9530944	C	A	18	9530946	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.97217507715156E-5	0.01
18	9530944	C	G	18	9530946	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.63003504225124E-5	0.002
18	9530944	C	T	18	9530946	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.65826680337639E-4	0.048
18	9530945	C	A	18	9530947	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.48071581314806E-4	0.01
18	9530945	C	G	18	9530947	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.07388403799597E-5	0.04
18	9530945	C	T	18	9530947	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.96170349677938E-5	0.004
18	9530946	T	A	18	9530948	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.47683093646091E-4	0.0
18	9530946	T	C	18	9530948	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.23909276540206E-4	0.002
18	9530946	T	G	18	9530948	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.06120634547253E-4	0.004
18	9530947	A	C	18	9530949	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.06201435209949E-5	0.0
18	9530947	A	G	18	9530949	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.35713912652815E-5	0.0
18	9530947	A	T	18	9530949	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.35349562609164E-5	0.0
18	9533321	T	A	18	9533323	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0136959878650268	0.2
18	9533321	T	C	18	9533323	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00109474603014467	0.074
18	9533321	T	G	18	9533323	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00478908797712329	0.16
18	9533322	C	A	18	9533324	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0333702647613699	0.102
18	9533322	C	G	18	9533324	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0027432277502021	0.1
18	9533322	C	T	18	9533324	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.14453711642296E-4	0.016
18	9533323	A	C	18	9533325	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.92642250151783E-5	0.052
18	9533323	A	G	18	9533325	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.04084768008485E-4	0.094
18	9533323	A	T	18	9533325	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.79534929060259E-4	0.02
18	9533324	T	A	18	9533326	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.461203554745973	0.524
18	9533324	T	C	18	9533326	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00128042572844098	0.064
18	9533324	T	G	18	9533326	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999925734616241	0.988
18	9533325	T	A	18	9533327	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00159781769438942	0.134
18	9533325	T	C	18	9533327	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.65186683463959E-5	0.006
18	9533325	T	G	18	9533327	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00145755896910831	0.066
18	9533326	A	C	18	9533328	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.15835509807119E-5	0.0
18	9533326	A	G	18	9533328	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.34588649675041E-5	0.0
18	9533326	A	T	18	9533328	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.86877577151688E-5	0.0
18	9533327	T	A	18	9533329	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.860191803600072	0.51
18	9533327	T	C	18	9533329	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.31266832255236E-4	0.088
18	9533327	T	G	18	9533329	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.99996998639699	0.974
18	9533328	T	A	18	9533330	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.753236360833926	0.388
18	9533328	T	C	18	9533330	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00646123601955452	0.292
18	9533328	T	G	18	9533330	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.925472803094894	0.446
18	9533329	T	A	18	9533331	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.6691898129814E-4	0.006
18	9533329	T	C	18	9533331	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.44744243970271E-5	0.0
18	9533329	T	G	18	9533331	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.34894367556679E-4	0.03
18	9533330	C	A	18	9533332	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.546164314915664	0.42
18	9533330	C	G	18	9533332	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.974573974093402	0.722
18	9533330	C	T	18	9533332	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.95400494308072E-4	0.07
18	9533331	A	C	18	9533333	y	y	splicing	RALBP1(NM_006788:exon8:c.1456-2A>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1456-2A>C;ENST00000383432:exon8:c.1456-2A>C)	.	.	0.999992076683048	0.934
18	9533331	A	G	18	9533333	y	y	splicing	RALBP1(NM_006788:exon8:c.1456-2A>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1456-2A>G;ENST00000383432:exon8:c.1456-2A>G)	.	.	0.999992076683048	0.934
18	9533331	A	T	18	9533333	y	y	splicing	RALBP1(NM_006788:exon8:c.1456-2A>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1456-2A>T;ENST00000383432:exon8:c.1456-2A>T)	.	.	0.999992076683048	0.934
18	9533332	G	A	18	9533334	y	y	splicing	RALBP1(NM_006788:exon8:c.1456-1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1456-1G>A;ENST00000383432:exon8:c.1456-1G>A)	.	.	0.999989528922238	0.944
18	9533332	G	C	18	9533334	y	y	splicing	RALBP1(NM_006788:exon8:c.1456-1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1456-1G>C;ENST00000383432:exon8:c.1456-1G>C)	.	.	0.999989528922238	0.944
18	9533332	G	T	18	9533334	y	y	splicing	RALBP1(NM_006788:exon8:c.1456-1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1456-1G>T;ENST00000383432:exon8:c.1456-1G>T)	.	.	0.999989528922238	0.944
18	9533333	G	A	18	9533335	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.G1456A:p.E486K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.G1456A:p.E486K;ENSG00000017797:ENST00000019317:exon8:c.G1456A:p.E486K;	0.999632548051318	0.872
18	9533333	G	C	18	9533335	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.G1456C:p.E486Q;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.G1456C:p.E486Q;ENSG00000017797:ENST00000019317:exon8:c.G1456C:p.E486Q;	0.999728071154882	0.99
18	9533333	G	T	18	9533335	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon8:c.G1456T:p.E486X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon8:c.G1456T:p.E486X;ENSG00000017797:ENST00000019317:exon8:c.G1456T:p.E486X;	0.999923996771124	0.992
18	9533334	A	C	18	9533336	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.A1457C:p.E486A;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.A1457C:p.E486A;ENSG00000017797:ENST00000019317:exon8:c.A1457C:p.E486A;	0.481231255248617	0.698
18	9533334	A	G	18	9533336	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.A1457G:p.E486G;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.A1457G:p.E486G;ENSG00000017797:ENST00000019317:exon8:c.A1457G:p.E486G;	0.594232798615489	0.614
18	9533334	A	T	18	9533336	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.A1457T:p.E486V;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.A1457T:p.E486V;ENSG00000017797:ENST00000019317:exon8:c.A1457T:p.E486V;	0.507002015576853	0.736
18	9533452	G	A	18	9533454	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon8:c.G1575A:p.Q525Q;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.G1575A:p.Q525Q;ENSG00000017797:ENST00000019317:exon8:c.G1575A:p.Q525Q;	0.00132504407267852	0.026
18	9533452	G	C	18	9533454	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.G1575C:p.Q525H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.G1575C:p.Q525H;ENSG00000017797:ENST00000019317:exon8:c.G1575C:p.Q525H;	0.329216744795079	0.37
18	9533452	G	T	18	9533454	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.G1575T:p.Q525H;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.G1575T:p.Q525H;ENSG00000017797:ENST00000019317:exon8:c.G1575T:p.Q525H;	0.964106273365021	0.686
18	9533453	A	C	18	9533455	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.A1576C:p.S526R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.A1576C:p.S526R;ENSG00000017797:ENST00000019317:exon8:c.A1576C:p.S526R;	0.999605656433093	0.968
18	9533453	A	G	18	9533455	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.A1576G:p.S526G;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.A1576G:p.S526G;ENSG00000017797:ENST00000019317:exon8:c.A1576G:p.S526G;	0.999837338673432	0.976
18	9533453	A	T	18	9533455	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.A1576T:p.S526C;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.A1576T:p.S526C;ENSG00000017797:ENST00000019317:exon8:c.A1576T:p.S526C;	0.99978889074822	0.978
18	9533454	G	A	18	9533456	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.G1577A:p.S526N;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.G1577A:p.S526N;ENSG00000017797:ENST00000019317:exon8:c.G1577A:p.S526N;	0.999995919348714	1.0
18	9533454	G	C	18	9533456	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.G1577C:p.S526T;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.G1577C:p.S526T;ENSG00000017797:ENST00000019317:exon8:c.G1577C:p.S526T;	0.999998312535482	0.998
18	9533454	G	T	18	9533456	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon8:c.G1577T:p.S526I;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon8:c.G1577T:p.S526I;ENSG00000017797:ENST00000019317:exon8:c.G1577T:p.S526I;	0.999992806544101	0.998
18	9533455	G	A	18	9533457	y	y	splicing	RALBP1(NM_006788:exon8:c.1577+1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1577+1G>A;ENST00000383432:exon8:c.1577+1G>A)	.	.	0.999986675681007	0.95
18	9533455	G	C	18	9533457	y	y	splicing	RALBP1(NM_006788:exon8:c.1577+1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1577+1G>C;ENST00000383432:exon8:c.1577+1G>C)	.	.	0.999986675681007	0.95
18	9533455	G	T	18	9533457	y	y	splicing	RALBP1(NM_006788:exon8:c.1577+1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1577+1G>T;ENST00000383432:exon8:c.1577+1G>T)	.	.	0.999986675681007	0.95
18	9533456	T	A	18	9533458	y	y	splicing	RALBP1(NM_006788:exon8:c.1577+2T>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1577+2T>A;ENST00000383432:exon8:c.1577+2T>A)	.	.	0.999989917668626	0.946
18	9533456	T	C	18	9533458	y	y	splicing	RALBP1(NM_006788:exon8:c.1577+2T>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1577+2T>C;ENST00000383432:exon8:c.1577+2T>C)	.	.	0.988042962918841	0.594
18	9533456	T	G	18	9533458	y	y	splicing	RALBP1(NM_006788:exon8:c.1577+2T>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon8:c.1577+2T>G;ENST00000383432:exon8:c.1577+2T>G)	.	.	0.999989917668626	0.946
18	9533457	A	C	18	9533459	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999880644618051	0.97
18	9533457	A	G	18	9533459	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.961431902649582	0.862
18	9533457	A	T	18	9533459	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.99991712575655	0.978
18	9533458	A	C	18	9533460	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0582259461469457	0.356
18	9533458	A	G	18	9533460	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.889971755724983	0.47
18	9533458	A	T	18	9533460	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.378892647588463	0.386
18	9533459	A	C	18	9533461	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.39832250797268E-4	0.064
18	9533459	A	G	18	9533461	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.06240817504302E-4	0.054
18	9533459	A	T	18	9533461	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.2887653026421E-4	0.296
18	9533460	G	A	18	9533462	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0315470294524969	0.198
18	9533460	G	C	18	9533462	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0379250671966461	0.232
18	9533460	G	T	18	9533462	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0014739891109045	0.03
18	9533461	G	A	18	9533463	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00434673075533906	0.006
18	9533461	G	C	18	9533463	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00478923464272753	0.008
18	9533461	G	T	18	9533463	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00193297232029952	0.034
18	9533462	A	C	18	9533464	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.62860328132019E-4	0.086
18	9533462	A	G	18	9533464	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.82862360411481E-4	0.01
18	9533462	A	T	18	9533464	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.14945228906664E-4	0.004
18	9533689	C	A	18	9533691	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	7.99622304663062E-4	0.074
18	9533689	C	G	18	9533691	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.16174711010037E-4	0.088
18	9533689	C	T	18	9533691	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.96607181024211E-5	0.0
18	9533690	T	A	18	9533692	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0365369739754587	0.24
18	9533690	T	C	18	9533692	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.43782753348499E-4	0.042
18	9533690	T	G	18	9533692	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00825962890232991	0.174
18	9533691	C	A	18	9533693	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00327013792062657	0.09
18	9533691	C	G	18	9533693	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.68580731734482E-4	0.056
18	9533691	C	T	18	9533693	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.43673631668907E-5	0.002
18	9533692	A	C	18	9533694	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.56549188518154E-6	0.002
18	9533692	A	G	18	9533694	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.36438602513152E-5	0.0
18	9533692	A	T	18	9533694	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.20175216104126E-5	0.0
18	9533693	T	A	18	9533695	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.21528276342369E-4	0.024
18	9533693	T	C	18	9533695	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.84546312438515E-5	0.0
18	9533693	T	G	18	9533695	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999448487842035	0.982
18	9533694	C	A	18	9533696	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00808592261430258	0.134
18	9533694	C	G	18	9533696	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0049897277566237	0.04
18	9533694	C	T	18	9533696	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.44921634247138E-4	0.006
18	9533695	T	A	18	9533697	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00175907136829691	0.074
18	9533695	T	C	18	9533697	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.40622729416177E-5	0.008
18	9533695	T	G	18	9533697	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.1677605200912E-4	0.066
18	9533696	T	A	18	9533698	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.981198139635997	0.806
18	9533696	T	C	18	9533698	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.7509324162261E-5	0.0
18	9533696	T	G	18	9533698	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00266575851380682	0.12
18	9533697	G	A	18	9533699	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.19921624993831E-5	0.002
18	9533697	G	C	18	9533699	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	9.11599788285826E-6	0.006
18	9533697	G	T	18	9533699	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.81104709051921E-5	0.002
18	9533698	C	A	18	9533700	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.97475819084807	0.656
18	9533698	C	G	18	9533700	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999745692940044	0.938
18	9533698	C	T	18	9533700	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.25842165618196E-4	0.078
18	9533699	A	C	18	9533701	y	y	splicing	RALBP1(NM_006788:exon9:c.1578-2A>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1578-2A>C;ENST00000383432:exon9:c.1578-2A>C)	.	.	0.999966203349492	0.932
18	9533699	A	G	18	9533701	y	y	splicing	RALBP1(NM_006788:exon9:c.1578-2A>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1578-2A>G;ENST00000383432:exon9:c.1578-2A>G)	.	.	0.999966203349492	0.932
18	9533699	A	T	18	9533701	y	y	splicing	RALBP1(NM_006788:exon9:c.1578-2A>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1578-2A>T;ENST00000383432:exon9:c.1578-2A>T)	.	.	0.999966203349492	0.926
18	9533700	G	A	18	9533702	y	y	splicing	RALBP1(NM_006788:exon9:c.1578-1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1578-1G>A;ENST00000383432:exon9:c.1578-1G>A)	.	.	0.999938422912956	0.928
18	9533700	G	C	18	9533702	y	y	splicing	RALBP1(NM_006788:exon9:c.1578-1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1578-1G>C;ENST00000383432:exon9:c.1578-1G>C)	.	.	0.999938422912956	0.936
18	9533700	G	T	18	9533702	y	y	splicing	RALBP1(NM_006788:exon9:c.1578-1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1578-1G>T;ENST00000383432:exon9:c.1578-1G>T)	.	.	0.999938422912956	0.932
18	9533701	T	A	18	9533703	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.T1578A:p.S526R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.T1578A:p.S526R;ENSG00000017797:ENST00000019317:exon9:c.T1578A:p.S526R;	1.44651919549203E-5	0.18
18	9533701	T	C	18	9533703	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon9:c.T1578C:p.S526S;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.T1578C:p.S526S;ENSG00000017797:ENST00000019317:exon9:c.T1578C:p.S526S;	9.34621177672219E-5	0.012
18	9533701	T	G	18	9533703	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.T1578G:p.S526R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.T1578G:p.S526R;ENSG00000017797:ENST00000019317:exon9:c.T1578G:p.S526R;	1.70461934046376E-5	0.202
18	9533702	C	A	18	9533704	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.C1579A:p.R527S;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.C1579A:p.R527S;ENSG00000017797:ENST00000019317:exon9:c.C1579A:p.R527S;	0.0559265673827301	0.246
18	9533702	C	G	18	9533704	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.C1579G:p.R527G;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.C1579G:p.R527G;ENSG00000017797:ENST00000019317:exon9:c.C1579G:p.R527G;	0.272587392077436	0.38
18	9533702	C	T	18	9533704	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.C1579T:p.R527C;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.C1579T:p.R527C;ENSG00000017797:ENST00000019317:exon9:c.C1579T:p.R527C;	0.979382521905792	0.822
18	9533822	G	A	18	9533824	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.G1699A:p.E567K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.G1699A:p.E567K;ENSG00000017797:ENST00000019317:exon9:c.G1699A:p.E567K;	0.940631663205541	0.772
18	9533822	G	C	18	9533824	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.G1699C:p.E567Q;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.G1699C:p.E567Q;ENSG00000017797:ENST00000019317:exon9:c.G1699C:p.E567Q;	0.909001321419552	0.7
18	9533822	G	T	18	9533824	y	y	exonic	RALBP1	stopgain SNV	RALBP1:NM_006788:exon9:c.G1699T:p.E567X;	exonic	ENSG00000017797	stopgain SNV	ENSG00000017797:ENST00000383432:exon9:c.G1699T:p.E567X;ENSG00000017797:ENST00000019317:exon9:c.G1699T:p.E567X;	0.995927730416433	0.782
18	9533823	A	C	18	9533825	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.A1700C:p.E567A;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.A1700C:p.E567A;ENSG00000017797:ENST00000019317:exon9:c.A1700C:p.E567A;	0.999348074348456	0.952
18	9533823	A	G	18	9533825	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.A1700G:p.E567G;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.A1700G:p.E567G;ENSG00000017797:ENST00000019317:exon9:c.A1700G:p.E567G;	0.999760493754863	0.972
18	9533823	A	T	18	9533825	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.A1700T:p.E567V;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.A1700T:p.E567V;ENSG00000017797:ENST00000019317:exon9:c.A1700T:p.E567V;	0.99980268909581	0.996
18	9533824	A	C	18	9533826	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.A1701C:p.E567D;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.A1701C:p.E567D;ENSG00000017797:ENST00000019317:exon9:c.A1701C:p.E567D;	2.76795688623033E-5	0.232
18	9533824	A	G	18	9533826	y	y	exonic	RALBP1	synonymous SNV	RALBP1:NM_006788:exon9:c.A1701G:p.E567E;	exonic	ENSG00000017797	synonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.A1701G:p.E567E;ENSG00000017797:ENST00000019317:exon9:c.A1701G:p.E567E;	3.50150484450522E-4	0.054
18	9533824	A	T	18	9533826	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon9:c.A1701T:p.E567D;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon9:c.A1701T:p.E567D;ENSG00000017797:ENST00000019317:exon9:c.A1701T:p.E567D;	8.42382634829392E-4	0.222
18	9533825	G	A	18	9533827	y	y	splicing	RALBP1(NM_006788:exon9:c.1701+1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1701+1G>A;ENST00000383432:exon9:c.1701+1G>A)	.	.	0.999989528922238	0.932
18	9533825	G	C	18	9533827	y	y	splicing	RALBP1(NM_006788:exon9:c.1701+1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1701+1G>C;ENST00000383432:exon9:c.1701+1G>C)	.	.	0.999989528922238	0.932
18	9533825	G	T	18	9533827	y	y	splicing	RALBP1(NM_006788:exon9:c.1701+1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1701+1G>T;ENST00000383432:exon9:c.1701+1G>T)	.	.	0.999989528922238	0.932
18	9533826	T	A	18	9533828	y	y	splicing	RALBP1(NM_006788:exon9:c.1701+2T>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1701+2T>A;ENST00000383432:exon9:c.1701+2T>A)	.	.	0.999992076683048	0.934
18	9533826	T	C	18	9533828	y	y	splicing	RALBP1(NM_006788:exon9:c.1701+2T>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1701+2T>C;ENST00000383432:exon9:c.1701+2T>C)	.	.	0.999949334623571	0.874
18	9533826	T	G	18	9533828	y	y	splicing	RALBP1(NM_006788:exon9:c.1701+2T>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon9:c.1701+2T>G;ENST00000383432:exon9:c.1701+2T>G)	.	.	0.999992076683048	0.934
18	9533827	G	A	18	9533829	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.9474919857781E-5	0.02
18	9533827	G	C	18	9533829	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.962714631982482	0.516
18	9533827	G	T	18	9533829	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.441425129298575	0.436
18	9533828	A	C	18	9533830	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.887310308209389	0.62
18	9533828	A	G	18	9533830	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.985218028207398	0.806
18	9533828	A	T	18	9533830	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.992930108643121	0.828
18	9533829	G	A	18	9533831	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999979463797424	0.978
18	9533829	G	C	18	9533831	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999959440533877	0.974
18	9533829	G	T	18	9533831	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999984136157672	0.964
18	9533830	T	A	18	9533832	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.803138701380419	0.648
18	9533830	T	C	18	9533832	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.61865383276858	0.554
18	9533830	T	G	18	9533832	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.78748542211412	0.66
18	9533831	T	A	18	9533833	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.67069969708845E-5	0.0
18	9533831	T	C	18	9533833	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.48914822356696E-5	0.0
18	9533831	T	G	18	9533833	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.48914822356696E-5	0.0
18	9533832	T	A	18	9533834	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	8.41947467718083E-5	0.006
18	9533832	T	C	18	9533834	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.23306658812244E-5	0.0
18	9533832	T	G	18	9533834	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	5.23306658812244E-5	0.0
18	9535657	T	A	18	9535659	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999413320323714	0.948
18	9535657	T	C	18	9535659	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.142534498728865	0.46
18	9535657	T	G	18	9535659	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999398073124054	0.914
18	9535658	C	A	18	9535660	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00116058815615935	0.098
18	9535658	C	G	18	9535660	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.05203669298864E-4	0.078
18	9535658	C	T	18	9535660	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.50941844781143E-5	0.006
18	9535659	A	C	18	9535661	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.99967890992491E-5	0.188
18	9535659	A	G	18	9535661	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.44553045399737E-5	0.224
18	9535659	A	T	18	9535661	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.1991893898479E-5	0.17
18	9535660	T	A	18	9535662	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.696537279546134	0.646
18	9535660	T	C	18	9535662	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.81268397294985E-4	0.096
18	9535660	T	G	18	9535662	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.999963537011322	0.972
18	9535661	T	A	18	9535663	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00631930513874223	0.224
18	9535661	T	C	18	9535663	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.03971071893072E-5	0.012
18	9535661	T	G	18	9535663	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00854496784558187	0.246
18	9535662	C	A	18	9535664	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0310192486706653	0.304
18	9535662	C	G	18	9535664	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0263823158005955	0.292
18	9535662	C	T	18	9535664	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.34160803523633E-4	0.014
18	9535663	C	A	18	9535665	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.7110154282055	0.538
18	9535663	C	G	18	9535665	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.73949453064444	0.526
18	9535663	C	T	18	9535665	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00104441489345158	0.094
18	9535664	C	A	18	9535666	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.00282440360561772	0.114
18	9535664	C	G	18	9535666	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.0029938781758987	0.152
18	9535664	C	T	18	9535666	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.81789681704644E-5	0.024
18	9535665	C	A	18	9535667	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	3.66608388317878E-5	0.0
18	9535665	C	G	18	9535667	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	6.31826809312398E-5	0.13
18	9535665	C	T	18	9535667	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	1.65615587935149E-5	0.0
18	9535666	A	C	18	9535668	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	4.09180153146439E-4	0.078
18	9535666	A	G	18	9535668	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	0.369150468999621	0.354
18	9535666	A	T	18	9535668	y	y	intronic	RALBP1	.	.	intronic	ENSG00000017797	.	.	2.34878991601759E-4	0.072
18	9535667	A	C	18	9535669	y	y	splicing	RALBP1(NM_006788:exon10:c.1702-2A>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon10:c.1702-2A>C;ENST00000383432:exon10:c.1702-2A>C)	.	.	0.999988624979899	0.944
18	9535667	A	G	18	9535669	y	y	splicing	RALBP1(NM_006788:exon10:c.1702-2A>G)	.	.	splicing	ENSG00000017797(ENST00000019317:exon10:c.1702-2A>G;ENST00000383432:exon10:c.1702-2A>G)	.	.	0.999988624979899	0.944
18	9535667	A	T	18	9535669	y	y	splicing	RALBP1(NM_006788:exon10:c.1702-2A>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon10:c.1702-2A>T;ENST00000383432:exon10:c.1702-2A>T)	.	.	0.999988624979899	0.944
18	9535668	G	A	18	9535670	y	y	splicing	RALBP1(NM_006788:exon10:c.1702-1G>A)	.	.	splicing	ENSG00000017797(ENST00000019317:exon10:c.1702-1G>A;ENST00000383432:exon10:c.1702-1G>A)	.	.	0.99997633459954	0.952
18	9535668	G	C	18	9535670	y	y	splicing	RALBP1(NM_006788:exon10:c.1702-1G>C)	.	.	splicing	ENSG00000017797(ENST00000019317:exon10:c.1702-1G>C;ENST00000383432:exon10:c.1702-1G>C)	.	.	0.99997633459954	0.952
18	9535668	G	T	18	9535670	y	y	splicing	RALBP1(NM_006788:exon10:c.1702-1G>T)	.	.	splicing	ENSG00000017797(ENST00000019317:exon10:c.1702-1G>T;ENST00000383432:exon10:c.1702-1G>T)	.	.	0.99997633459954	0.952
18	9535669	A	C	18	9535671	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon10:c.A1702C:p.I568L;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon10:c.A1702C:p.I568L;ENSG00000017797:ENST00000019317:exon10:c.A1702C:p.I568L;	0.641954443287909	0.638
18	9535669	A	G	18	9535671	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon10:c.A1702G:p.I568V;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon10:c.A1702G:p.I568V;ENSG00000017797:ENST00000019317:exon10:c.A1702G:p.I568V;	0.140074070059215	0.356
18	9535669	A	T	18	9535671	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon10:c.A1702T:p.I568L;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon10:c.A1702T:p.I568L;ENSG00000017797:ENST00000019317:exon10:c.A1702T:p.I568L;	0.660064132405242	0.564
18	9535670	T	A	18	9535672	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon10:c.T1703A:p.I568K;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon10:c.T1703A:p.I568K;ENSG00000017797:ENST00000019317:exon10:c.T1703A:p.I568K;	0.00134182830498229	0.158
18	9535670	T	C	18	9535672	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon10:c.T1703C:p.I568T;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon10:c.T1703C:p.I568T;ENSG00000017797:ENST00000019317:exon10:c.T1703C:p.I568T;	0.0159548088967211	0.16
18	9535670	T	G	18	9535672	y	y	exonic	RALBP1	nonsynonymous SNV	RALBP1:NM_006788:exon10:c.T1703G:p.I568R;	exonic	ENSG00000017797	nonsynonymous SNV	ENSG00000017797:ENST00000383432:exon10:c.T1703G:p.I568R;ENSG00000017797:ENST00000019317:exon10:c.T1703G:p.I568R;	0.00272195310573065	0.146
18	9547949	G	A	18	9547951	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon20:c.C2640T:p.D880D;PPP4R1:NM_001042388:exon20:c.C2691T:p.D897D;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon20:c.C2691T:p.D897D;ENSG00000154845:ENST00000400555:exon20:c.C2640T:p.D880D;	5.89171835944506E-6	0.0
18	9547949	G	C	18	9547951	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon20:c.C2640G:p.D880E;PPP4R1:NM_001042388:exon20:c.C2691G:p.D897E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon20:c.C2691G:p.D897E;ENSG00000154845:ENST00000400555:exon20:c.C2640G:p.D880E;	6.73621616301004E-6	0.002
18	9547949	G	T	18	9547951	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon20:c.C2640A:p.D880E;PPP4R1:NM_001042388:exon20:c.C2691A:p.D897E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon20:c.C2691A:p.D897E;ENSG00000154845:ENST00000400555:exon20:c.C2640A:p.D880E;	2.00233740343274E-5	0.048
18	9547950	T	A	18	9547952	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon20:c.A2639T:p.D880V;PPP4R1:NM_001042388:exon20:c.A2690T:p.D897V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon20:c.A2690T:p.D897V;ENSG00000154845:ENST00000400555:exon20:c.A2639T:p.D880V;	0.303329487306817	0.24
18	9547950	T	C	18	9547952	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon20:c.A2639G:p.D880G;PPP4R1:NM_001042388:exon20:c.A2690G:p.D897G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon20:c.A2690G:p.D897G;ENSG00000154845:ENST00000400555:exon20:c.A2639G:p.D880G;	0.00129995269637286	0.014
18	9547950	T	G	18	9547952	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon20:c.A2639C:p.D880A;PPP4R1:NM_001042388:exon20:c.A2690C:p.D897A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon20:c.A2690C:p.D897A;ENSG00000154845:ENST00000400555:exon20:c.A2639C:p.D880A;	0.0767751930023597	0.194
18	9547951	C	A	18	9547953	y	y	splicing	PPP4R1(NM_005134:exon21:c.2639-1G>T;NM_001042388:exon21:c.2690-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon21:c.2639-1G>T;ENST00000400556:exon21:c.2690-1G>T;ENST00000285124:exon21:c.2657-1G>T)	.	.	0.999976638640456	0.912
18	9547951	C	G	18	9547953	y	y	splicing	PPP4R1(NM_005134:exon21:c.2639-1G>C;NM_001042388:exon21:c.2690-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon21:c.2639-1G>C;ENST00000400556:exon21:c.2690-1G>C;ENST00000285124:exon21:c.2657-1G>C)	.	.	0.999976638640456	0.914
18	9547951	C	T	18	9547953	y	y	splicing	PPP4R1(NM_005134:exon21:c.2639-1G>A;NM_001042388:exon21:c.2690-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon21:c.2639-1G>A;ENST00000400556:exon21:c.2690-1G>A;ENST00000285124:exon21:c.2657-1G>A)	.	.	0.999976638640456	0.914
18	9547952	T	A	18	9547954	y	y	splicing	PPP4R1(NM_005134:exon21:c.2639-2A>T;NM_001042388:exon21:c.2690-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon21:c.2639-2A>T;ENST00000400556:exon21:c.2690-2A>T;ENST00000285124:exon21:c.2657-2A>T)	.	.	0.999979394981131	0.92
18	9547952	T	C	18	9547954	y	y	splicing	PPP4R1(NM_005134:exon21:c.2639-2A>G;NM_001042388:exon21:c.2690-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon21:c.2639-2A>G;ENST00000400556:exon21:c.2690-2A>G;ENST00000285124:exon21:c.2657-2A>G)	.	.	0.999979394981131	0.92
18	9547952	T	G	18	9547954	y	y	splicing	PPP4R1(NM_005134:exon21:c.2639-2A>C;NM_001042388:exon21:c.2690-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon21:c.2639-2A>C;ENST00000400556:exon21:c.2690-2A>C;ENST00000285124:exon21:c.2657-2A>C)	.	.	0.999979394981131	0.92
18	9547953	G	A	18	9547955	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0671324312326226	0.114
18	9547953	G	C	18	9547955	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999778092415759	0.918
18	9547953	G	T	18	9547955	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999448267723896	0.888
18	9547954	G	A	18	9547956	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.24240632693381E-5	0.018
18	9547954	G	C	18	9547956	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.95436003900752E-5	0.008
18	9547954	G	T	18	9547956	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.51968553524252E-5	0.028
18	9547955	A	C	18	9547957	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.834394827316991	0.51
18	9547955	A	G	18	9547957	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00301514810077738	0.102
18	9547955	A	T	18	9547957	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.60257185696244	0.42
18	9547956	A	C	18	9547958	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.583855043222987	0.502
18	9547956	A	G	18	9547958	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.19166604613419E-5	0.026
18	9547956	A	T	18	9547958	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.353624837639332	0.414
18	9547957	A	C	18	9547959	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999749946439548	0.98
18	9547957	A	G	18	9547959	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.12307996202153E-4	0.018
18	9547957	A	T	18	9547959	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.118882364644097	0.318
18	9547958	T	A	18	9547960	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.02499136237015E-4	0.032
18	9547958	T	C	18	9547960	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.63504323677618E-5	0.054
18	9547958	T	G	18	9547960	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.74854759863203E-5	0.028
18	9547959	G	A	18	9547961	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.13783275871569E-5	0.166
18	9547959	G	C	18	9547961	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.7658284690499E-4	0.232
18	9547959	G	T	18	9547961	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.08630766849375E-4	0.204
18	9547960	A	C	18	9547962	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.831841414710479	0.606
18	9547960	A	G	18	9547962	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.89250504927896E-5	0.074
18	9547960	A	T	18	9547962	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.805123867378234	0.606
18	9547961	C	A	18	9547963	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.19987496954594E-5	0.032
18	9547961	C	G	18	9547963	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.38832368786551E-5	0.012
18	9547961	C	T	18	9547963	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.85554316650292E-4	0.068
18	9547962	A	C	18	9547964	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999937968387327	0.962
18	9547962	A	G	18	9547964	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00253893702370487	0.09
18	9547962	A	T	18	9547964	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999929214229733	0.97
18	9549187	C	A	18	9549189	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.66672549778408E-5	0.0
18	9549187	C	G	18	9549189	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.66672549778408E-5	0.0
18	9549187	C	T	18	9549189	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.75289494538373E-5	0.0
18	9549188	T	A	18	9549190	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.12233635673473E-5	0.0
18	9549188	T	C	18	9549190	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.57254507674651E-5	0.0
18	9549188	T	G	18	9549190	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.39321167456118E-5	0.0
18	9549189	A	C	18	9549191	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00124556222617034	0.2
18	9549189	A	G	18	9549191	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00479373434341175	0.234
18	9549189	A	T	18	9549191	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00593858471679427	0.216
18	9549190	C	A	18	9549192	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999716842563422	0.884
18	9549190	C	G	18	9549192	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999271980959975	0.856
18	9549190	C	T	18	9549192	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.981868487998422	0.658
18	9549191	C	A	18	9549193	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.69798716638437E-4	0.022
18	9549191	C	G	18	9549193	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.66635243436543E-4	0.018
18	9549191	C	T	18	9549193	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.43362625573613E-4	0.08
18	9549192	T	A	18	9549194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.191583124353815	0.458
18	9549192	T	C	18	9549194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00269535910729747	0.246
18	9549192	T	G	18	9549194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.385332912085108	0.498
18	9549193	A	C	18	9549195	y	y	splicing	PPP4R1(NM_005134:exon20:c.2638+2T>G;NM_001042388:exon20:c.2689+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2638+2T>G;ENST00000400556:exon20:c.2689+2T>G;ENST00000285124:exon20:c.2656+2T>G)	.	.	0.99994568797423	0.932
18	9549193	A	G	18	9549195	y	y	splicing	PPP4R1(NM_005134:exon20:c.2638+2T>C;NM_001042388:exon20:c.2689+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2638+2T>C;ENST00000400556:exon20:c.2689+2T>C;ENST00000285124:exon20:c.2656+2T>C)	.	.	0.988424008598082	0.718
18	9549193	A	T	18	9549195	y	y	splicing	PPP4R1(NM_005134:exon20:c.2638+2T>A;NM_001042388:exon20:c.2689+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2638+2T>A;ENST00000400556:exon20:c.2689+2T>A;ENST00000285124:exon20:c.2656+2T>A)	.	.	0.99994568797423	0.928
18	9549194	C	A	18	9549196	y	y	splicing	PPP4R1(NM_005134:exon20:c.2638+1G>T;NM_001042388:exon20:c.2689+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2638+1G>T;ENST00000400556:exon20:c.2689+1G>T;ENST00000285124:exon20:c.2656+1G>T)	.	.	0.999982737877662	0.936
18	9549194	C	G	18	9549196	y	y	splicing	PPP4R1(NM_005134:exon20:c.2638+1G>C;NM_001042388:exon20:c.2689+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2638+1G>C;ENST00000400556:exon20:c.2689+1G>C;ENST00000285124:exon20:c.2656+1G>C)	.	.	0.999975938198618	0.932
18	9549194	C	T	18	9549196	y	y	splicing	PPP4R1(NM_005134:exon20:c.2638+1G>A;NM_001042388:exon20:c.2689+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2638+1G>A;ENST00000400556:exon20:c.2689+1G>A;ENST00000285124:exon20:c.2656+1G>A)	.	.	0.999982737877662	0.938
18	9549195	C	A	18	9549197	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.G2638T:p.D880Y;PPP4R1:NM_001042388:exon19:c.G2689T:p.D897Y;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.G2689T:p.D897Y;ENSG00000154845:ENST00000400555:exon19:c.G2638T:p.D880Y;	0.999916885743617	0.988
18	9549195	C	G	18	9549197	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.G2638C:p.D880H;PPP4R1:NM_001042388:exon19:c.G2689C:p.D897H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.G2689C:p.D897H;ENSG00000154845:ENST00000400555:exon19:c.G2638C:p.D880H;	0.999960062337523	0.95
18	9549195	C	T	18	9549197	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.G2638A:p.D880N;PPP4R1:NM_001042388:exon19:c.G2689A:p.D897N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.G2689A:p.D897N;ENSG00000154845:ENST00000400555:exon19:c.G2638A:p.D880N;	0.999855721446886	0.992
18	9549196	T	A	18	9549198	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.A2637T:p.K879N;PPP4R1:NM_001042388:exon19:c.A2688T:p.K896N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2688T:p.K896N;ENSG00000154845:ENST00000400555:exon19:c.A2637T:p.K879N;	0.727904950892222	0.718
18	9549196	T	C	18	9549198	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon19:c.A2637G:p.K879K;PPP4R1:NM_001042388:exon19:c.A2688G:p.K896K;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2688G:p.K896K;ENSG00000154845:ENST00000400555:exon19:c.A2637G:p.K879K;	0.202273077005669	0.448
18	9549196	T	G	18	9549198	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.A2637C:p.K879N;PPP4R1:NM_001042388:exon19:c.A2688C:p.K896N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2688C:p.K896N;ENSG00000154845:ENST00000400555:exon19:c.A2637C:p.K879N;	0.350124564545577	0.682
18	9549197	T	A	18	9549199	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.A2636T:p.K879I;PPP4R1:NM_001042388:exon19:c.A2687T:p.K896I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2687T:p.K896I;ENSG00000154845:ENST00000400555:exon19:c.A2636T:p.K879I;	0.975958743824917	0.654
18	9549197	T	C	18	9549199	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.A2636G:p.K879R;PPP4R1:NM_001042388:exon19:c.A2687G:p.K896R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2687G:p.K896R;ENSG00000154845:ENST00000400555:exon19:c.A2636G:p.K879R;	0.337546388365817	0.418
18	9549197	T	G	18	9549199	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.A2636C:p.K879T;PPP4R1:NM_001042388:exon19:c.A2687C:p.K896T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2687C:p.K896T;ENSG00000154845:ENST00000400555:exon19:c.A2636C:p.K879T;	0.844343060328826	0.628
18	9549335	G	A	18	9549337	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.C2498T:p.T833I;PPP4R1:NM_001042388:exon19:c.C2549T:p.T850I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.C2549T:p.T850I;ENSG00000154845:ENST00000400555:exon19:c.C2498T:p.T833I;	0.217194671425181	0.418
18	9549335	G	C	18	9549337	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.C2498G:p.T833S;PPP4R1:NM_001042388:exon19:c.C2549G:p.T850S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.C2549G:p.T850S;ENSG00000154845:ENST00000400555:exon19:c.C2498G:p.T833S;	0.0130818512128754	0.182
18	9549335	G	T	18	9549337	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.C2498A:p.T833N;PPP4R1:NM_001042388:exon19:c.C2549A:p.T850N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.C2549A:p.T850N;ENSG00000154845:ENST00000400555:exon19:c.C2498A:p.T833N;	0.0759546855325784	0.182
18	9549336	T	A	18	9549338	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.A2497T:p.T833S;PPP4R1:NM_001042388:exon19:c.A2548T:p.T850S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2548T:p.T850S;ENSG00000154845:ENST00000400555:exon19:c.A2497T:p.T833S;	0.702654858214202	0.466
18	9549336	T	C	18	9549338	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.A2497G:p.T833A;PPP4R1:NM_001042388:exon19:c.A2548G:p.T850A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2548G:p.T850A;ENSG00000154845:ENST00000400555:exon19:c.A2497G:p.T833A;	2.87785365197729E-4	0.01
18	9549336	T	G	18	9549338	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon19:c.A2497C:p.T833P;PPP4R1:NM_001042388:exon19:c.A2548C:p.T850P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon19:c.A2548C:p.T850P;ENSG00000154845:ENST00000400555:exon19:c.A2497C:p.T833P;	0.752634596804304	0.534
18	9549337	C	A	18	9549339	y	y	splicing	PPP4R1(NM_005134:exon20:c.2497-1G>T;NM_001042388:exon20:c.2548-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2497-1G>T;ENST00000400556:exon20:c.2548-1G>T;ENST00000285124:exon20:c.2515-1G>T)	.	.	0.999985532734767	0.938
18	9549337	C	G	18	9549339	y	y	splicing	PPP4R1(NM_005134:exon20:c.2497-1G>C;NM_001042388:exon20:c.2548-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2497-1G>C;ENST00000400556:exon20:c.2548-1G>C;ENST00000285124:exon20:c.2515-1G>C)	.	.	0.999985532734767	0.938
18	9549337	C	T	18	9549339	y	y	splicing	PPP4R1(NM_005134:exon20:c.2497-1G>A;NM_001042388:exon20:c.2548-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2497-1G>A;ENST00000400556:exon20:c.2548-1G>A;ENST00000285124:exon20:c.2515-1G>A)	.	.	0.999985532734767	0.938
18	9549338	T	A	18	9549340	y	y	splicing	PPP4R1(NM_005134:exon20:c.2497-2A>T;NM_001042388:exon20:c.2548-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2497-2A>T;ENST00000400556:exon20:c.2548-2A>T;ENST00000285124:exon20:c.2515-2A>T)	.	.	0.999992752818502	0.914
18	9549338	T	C	18	9549340	y	y	splicing	PPP4R1(NM_005134:exon20:c.2497-2A>G;NM_001042388:exon20:c.2548-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2497-2A>G;ENST00000400556:exon20:c.2548-2A>G;ENST00000285124:exon20:c.2515-2A>G)	.	.	0.999992752818502	0.924
18	9549338	T	G	18	9549340	y	y	splicing	PPP4R1(NM_005134:exon20:c.2497-2A>C;NM_001042388:exon20:c.2548-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon20:c.2497-2A>C;ENST00000400556:exon20:c.2548-2A>C;ENST00000285124:exon20:c.2515-2A>C)	.	.	0.999992752818502	0.924
18	9549339	G	A	18	9549341	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.42170628667831E-4	0.018
18	9549339	G	C	18	9549341	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998911761464389	0.916
18	9549339	G	T	18	9549341	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.958362406697433	0.548
18	9549340	G	A	18	9549342	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.29762350424627E-5	0.0
18	9549340	G	C	18	9549342	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.78324505526454E-5	0.004
18	9549340	G	T	18	9549342	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.39510707910491E-5	0.0
18	9549341	G	A	18	9549343	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.05534690973679E-4	0.01
18	9549341	G	C	18	9549343	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0119076818264445	0.2
18	9549341	G	T	18	9549343	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00201265104356615	0.102
18	9549342	G	A	18	9549344	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.16066709743868E-5	0.046
18	9549342	G	C	18	9549344	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00215980034457978	0.164
18	9549342	G	T	18	9549344	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00596383865435467	0.174
18	9549343	A	C	18	9549345	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.15326070765051E-4	0.098
18	9549343	A	G	18	9549345	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.44859591517958E-5	0.0
18	9549343	A	T	18	9549345	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.01409890316338E-4	0.034
18	9549344	A	C	18	9549346	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00112429848891865	0.068
18	9549344	A	G	18	9549346	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.2544334051169E-4	0.012
18	9549344	A	T	18	9549346	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00101080416817704	0.054
18	9549345	G	A	18	9549347	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.88245963518985E-5	0.0
18	9549345	G	C	18	9549347	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.38475111099593E-5	0.028
18	9549345	G	T	18	9549347	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.69298249524388E-5	0.102
18	9549346	A	C	18	9549348	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00164837200284318	0.146
18	9549346	A	G	18	9549348	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.44201514842898E-4	0.03
18	9549346	A	T	18	9549348	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00151265492281194	0.134
18	9549347	G	A	18	9549349	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.8955562137698E-6	0.0
18	9549347	G	C	18	9549349	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.81368952543973E-4	0.01
18	9549347	G	T	18	9549349	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.67657675666166E-4	0.092
18	9549348	A	C	18	9549350	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00602372654751774	0.086
18	9549348	A	G	18	9549350	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.00632219001279E-4	0.002
18	9549348	A	T	18	9549350	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00537406276221688	0.114
18	9550042	T	A	18	9550044	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.84893575895825E-5	0.0
18	9550042	T	C	18	9550044	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.33815804894828E-5	0.0
18	9550042	T	G	18	9550044	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.33815804894828E-5	0.0
18	9550043	C	A	18	9550045	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.49324761033339E-5	0.002
18	9550043	C	G	18	9550045	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.06341561599038E-6	0.0
18	9550043	C	T	18	9550045	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.70337218186484E-5	0.004
18	9550044	G	A	18	9550046	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.00224735699467E-5	0.006
18	9550044	G	C	18	9550046	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.50621026796947E-4	0.036
18	9550044	G	T	18	9550046	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.61157069484505E-4	0.05
18	9550045	C	A	18	9550047	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996985980357038	0.698
18	9550045	C	G	18	9550047	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.993282901339151	0.802
18	9550045	C	T	18	9550047	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998659524304991	0.826
18	9550046	T	A	18	9550048	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.178591858836727	0.336
18	9550046	T	C	18	9550048	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.21104644648779	0.378
18	9550046	T	G	18	9550048	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0661815148402387	0.304
18	9550047	T	A	18	9550049	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.692687731472479	0.56
18	9550047	T	C	18	9550049	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00145907183004113	0.116
18	9550047	T	G	18	9550049	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.79015023684154	0.546
18	9550048	A	C	18	9550050	y	y	splicing	PPP4R1(NM_005134:exon19:c.2496+2T>G;NM_001042388:exon19:c.2547+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2496+2T>G;ENST00000400556:exon19:c.2547+2T>G;ENST00000285124:exon19:c.2514+2T>G)	.	.	0.999988247793601	0.93
18	9550048	A	G	18	9550050	y	y	splicing	PPP4R1(NM_005134:exon19:c.2496+2T>C;NM_001042388:exon19:c.2547+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2496+2T>C;ENST00000400556:exon19:c.2547+2T>C;ENST00000285124:exon19:c.2514+2T>C)	.	.	0.996388929962285	0.714
18	9550048	A	T	18	9550050	y	y	splicing	PPP4R1(NM_005134:exon19:c.2496+2T>A;NM_001042388:exon19:c.2547+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2496+2T>A;ENST00000400556:exon19:c.2547+2T>A;ENST00000285124:exon19:c.2514+2T>A)	.	.	0.999988247793601	0.93
18	9550049	C	A	18	9550051	y	y	splicing	PPP4R1(NM_005134:exon19:c.2496+1G>T;NM_001042388:exon19:c.2547+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2496+1G>T;ENST00000400556:exon19:c.2547+1G>T;ENST00000285124:exon19:c.2514+1G>T)	.	.	0.999990361384395	0.938
18	9550049	C	G	18	9550051	y	y	splicing	PPP4R1(NM_005134:exon19:c.2496+1G>C;NM_001042388:exon19:c.2547+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2496+1G>C;ENST00000400556:exon19:c.2547+1G>C;ENST00000285124:exon19:c.2514+1G>C)	.	.	0.999990361384395	0.938
18	9550049	C	T	18	9550051	y	y	splicing	PPP4R1(NM_005134:exon19:c.2496+1G>A;NM_001042388:exon19:c.2547+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2496+1G>A;ENST00000400556:exon19:c.2547+1G>A;ENST00000285124:exon19:c.2514+1G>A)	.	.	0.999990361384395	0.938
18	9550050	C	A	18	9550052	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.G2496T:p.Q832H;PPP4R1:NM_001042388:exon18:c.G2547T:p.Q849H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.G2547T:p.Q849H;ENSG00000154845:ENST00000400555:exon18:c.G2496T:p.Q832H;	0.999879428174743	0.986
18	9550050	C	G	18	9550052	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.G2496C:p.Q832H;PPP4R1:NM_001042388:exon18:c.G2547C:p.Q849H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.G2547C:p.Q849H;ENSG00000154845:ENST00000400555:exon18:c.G2496C:p.Q832H;	0.999977680374532	0.972
18	9550050	C	T	18	9550052	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon18:c.G2496A:p.Q832Q;PPP4R1:NM_001042388:exon18:c.G2547A:p.Q849Q;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.G2547A:p.Q849Q;ENSG00000154845:ENST00000400555:exon18:c.G2496A:p.Q832Q;	0.999967528288035	0.976
18	9550051	T	A	18	9550053	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.A2495T:p.Q832L;PPP4R1:NM_001042388:exon18:c.A2546T:p.Q849L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.A2546T:p.Q849L;ENSG00000154845:ENST00000400555:exon18:c.A2495T:p.Q832L;	0.990749844012468	0.566
18	9550051	T	C	18	9550053	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.A2495G:p.Q832R;PPP4R1:NM_001042388:exon18:c.A2546G:p.Q849R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.A2546G:p.Q849R;ENSG00000154845:ENST00000400555:exon18:c.A2495G:p.Q832R;	0.99375341671737	0.906
18	9550051	T	G	18	9550053	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.A2495C:p.Q832P;PPP4R1:NM_001042388:exon18:c.A2546C:p.Q849P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.A2546C:p.Q849P;ENSG00000154845:ENST00000400555:exon18:c.A2495C:p.Q832P;	0.987282838141993	0.788
18	9550052	G	A	18	9550054	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon18:c.C2494T:p.Q832X;PPP4R1:NM_001042388:exon18:c.C2545T:p.Q849X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon18:c.C2545T:p.Q849X;ENSG00000154845:ENST00000400555:exon18:c.C2494T:p.Q832X;	0.998559238509658	0.744
18	9550052	G	C	18	9550054	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.C2494G:p.Q832E;PPP4R1:NM_001042388:exon18:c.C2545G:p.Q849E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.C2545G:p.Q849E;ENSG00000154845:ENST00000400555:exon18:c.C2494G:p.Q832E;	0.926736865931242	0.626
18	9550052	G	T	18	9550054	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.C2494A:p.Q832K;PPP4R1:NM_001042388:exon18:c.C2545A:p.Q849K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.C2545A:p.Q849K;ENSG00000154845:ENST00000400555:exon18:c.C2494A:p.Q832K;	0.973327418457201	0.85
18	9550183	A	C	18	9550185	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.T2363G:p.V788G;PPP4R1:NM_001042388:exon18:c.T2414G:p.V805G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.T2414G:p.V805G;ENSG00000154845:ENST00000400555:exon18:c.T2363G:p.V788G;	0.818383190019522	0.648
18	9550183	A	G	18	9550185	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.T2363C:p.V788A;PPP4R1:NM_001042388:exon18:c.T2414C:p.V805A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.T2414C:p.V805A;ENSG00000154845:ENST00000400555:exon18:c.T2363C:p.V788A;	0.645965876064575	0.688
18	9550183	A	T	18	9550185	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.T2363A:p.V788D;PPP4R1:NM_001042388:exon18:c.T2414A:p.V805D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.T2414A:p.V805D;ENSG00000154845:ENST00000400555:exon18:c.T2363A:p.V788D;	0.818707331400944	0.604
18	9550184	C	A	18	9550186	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.G2362T:p.V788F;PPP4R1:NM_001042388:exon18:c.G2413T:p.V805F;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.G2413T:p.V805F;ENSG00000154845:ENST00000400555:exon18:c.G2362T:p.V788F;	0.999907834882124	0.98
18	9550184	C	G	18	9550186	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.G2362C:p.V788L;PPP4R1:NM_001042388:exon18:c.G2413C:p.V805L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.G2413C:p.V805L;ENSG00000154845:ENST00000400555:exon18:c.G2362C:p.V788L;	0.999920558268988	0.978
18	9550184	C	T	18	9550186	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon18:c.G2362A:p.V788I;PPP4R1:NM_001042388:exon18:c.G2413A:p.V805I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon18:c.G2413A:p.V805I;ENSG00000154845:ENST00000400555:exon18:c.G2362A:p.V788I;	0.999200127835956	0.86
18	9550185	C	A	18	9550187	y	y	splicing	PPP4R1(NM_005134:exon19:c.2362-1G>T;NM_001042388:exon19:c.2413-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2362-1G>T;ENST00000400556:exon19:c.2413-1G>T;ENST00000285124:exon19:c.2380-1G>T)	.	.	0.999990361384395	0.938
18	9550185	C	G	18	9550187	y	y	splicing	PPP4R1(NM_005134:exon19:c.2362-1G>C;NM_001042388:exon19:c.2413-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2362-1G>C;ENST00000400556:exon19:c.2413-1G>C;ENST00000285124:exon19:c.2380-1G>C)	.	.	0.999990361384395	0.938
18	9550185	C	T	18	9550187	y	y	splicing	PPP4R1(NM_005134:exon19:c.2362-1G>A;NM_001042388:exon19:c.2413-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2362-1G>A;ENST00000400556:exon19:c.2413-1G>A;ENST00000285124:exon19:c.2380-1G>A)	.	.	0.999990361384395	0.938
18	9550186	T	A	18	9550188	y	y	splicing	PPP4R1(NM_005134:exon19:c.2362-2A>T;NM_001042388:exon19:c.2413-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2362-2A>T;ENST00000400556:exon19:c.2413-2A>T;ENST00000285124:exon19:c.2380-2A>T)	.	.	0.999988247793601	0.93
18	9550186	T	C	18	9550188	y	y	splicing	PPP4R1(NM_005134:exon19:c.2362-2A>G;NM_001042388:exon19:c.2413-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2362-2A>G;ENST00000400556:exon19:c.2413-2A>G;ENST00000285124:exon19:c.2380-2A>G)	.	.	0.999988247793601	0.93
18	9550186	T	G	18	9550188	y	y	splicing	PPP4R1(NM_005134:exon19:c.2362-2A>C;NM_001042388:exon19:c.2413-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon19:c.2362-2A>C;ENST00000400556:exon19:c.2413-2A>C;ENST00000285124:exon19:c.2380-2A>C)	.	.	0.999988247793601	0.93
18	9550187	G	A	18	9550189	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00193795552850474	0.072
18	9550187	G	C	18	9550189	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998819441654866	0.862
18	9550187	G	T	18	9550189	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.753554100545435	0.506
18	9550188	G	A	18	9550190	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.06247521372032E-4	0.008
18	9550188	G	C	18	9550190	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.5235507434286E-5	0.002
18	9550188	G	T	18	9550190	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.88585310108345E-5	0.01
18	9550189	G	A	18	9550191	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.62248396191775E-5	0.012
18	9550189	G	C	18	9550191	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.02471680881307E-4	0.114
18	9550189	G	T	18	9550191	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00104698914729564	0.144
18	9550190	A	C	18	9550192	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0308556412434492	0.126
18	9550190	A	G	18	9550192	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.98679945145927E-5	0.0
18	9550190	A	T	18	9550192	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00493695373526027	0.066
18	9550191	G	A	18	9550193	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.20277478461501E-4	0.004
18	9550191	G	C	18	9550193	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0061096831676752	0.174
18	9550191	G	T	18	9550193	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00718220538904277	0.198
18	9550192	G	A	18	9550194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.35270524987162E-5	0.016
18	9550192	G	C	18	9550194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.57315284561265E-4	0.102
18	9550192	G	T	18	9550194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00122977947289153	0.08
18	9550193	G	A	18	9550195	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.42694660382121E-5	0.0
18	9550193	G	C	18	9550195	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999865843702219	0.998
18	9550193	G	T	18	9550195	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.62015925189275E-4	0.022
18	9550194	T	A	18	9550196	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.03272425293411E-5	0.0
18	9550194	T	C	18	9550196	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.51030159614068E-5	0.0
18	9550194	T	G	18	9550196	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.51196304966928E-5	0.018
18	9550195	G	A	18	9550197	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.06740225368411E-5	0.006
18	9550195	G	C	18	9550197	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.35063209465111E-4	0.03
18	9550195	G	T	18	9550197	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.43067214053751E-4	0.028
18	9550196	A	C	18	9550198	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0136680864278892	0.186
18	9550196	A	G	18	9550198	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.27526234106529E-4	0.002
18	9550196	A	T	18	9550198	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0139338529506519	0.198
18	9550268	A	C	18	9550270	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.76743522975641E-4	0.006
18	9550268	A	G	18	9550270	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.26276657518679E-4	0.012
18	9550268	A	T	18	9550270	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.3056449615908E-4	0.006
18	9550269	T	A	18	9550271	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.85519179425584E-5	0.01
18	9550269	T	C	18	9550271	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.68369071027841E-5	0.0
18	9550269	T	G	18	9550271	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.4111746353387E-4	0.0
18	9550270	A	C	18	9550272	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998676623380855	0.858
18	9550270	A	G	18	9550272	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998142153001599	0.842
18	9550270	A	T	18	9550272	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998914696866646	0.812
18	9550271	C	A	18	9550273	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999996169228369	0.978
18	9550271	C	G	18	9550273	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999987040453402	0.984
18	9550271	C	T	18	9550273	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999992481048781	1.0
18	9550272	A	C	18	9550274	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.90519554743677E-5	0.092
18	9550272	A	G	18	9550274	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.04418518646578E-4	0.028
18	9550272	A	T	18	9550274	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.25123605992706E-4	0.07
18	9550273	T	A	18	9550275	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99995053825215	0.918
18	9550273	T	C	18	9550275	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.993923597086368	0.894
18	9550273	T	G	18	9550275	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999980996654441	0.912
18	9550274	A	C	18	9550276	y	y	splicing	PPP4R1(NM_005134:exon18:c.2361+2T>G;NM_001042388:exon18:c.2412+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2361+2T>G;ENST00000400556:exon18:c.2412+2T>G;ENST00000285124:exon18:c.2379+2T>G)	.	.	0.999988247793601	0.932
18	9550274	A	G	18	9550276	y	y	splicing	PPP4R1(NM_005134:exon18:c.2361+2T>C;NM_001042388:exon18:c.2412+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2361+2T>C;ENST00000400556:exon18:c.2412+2T>C;ENST00000285124:exon18:c.2379+2T>C)	.	.	0.99340600729494	0.71
18	9550274	A	T	18	9550276	y	y	splicing	PPP4R1(NM_005134:exon18:c.2361+2T>A;NM_001042388:exon18:c.2412+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2361+2T>A;ENST00000400556:exon18:c.2412+2T>A;ENST00000285124:exon18:c.2379+2T>A)	.	.	0.999988247793601	0.932
18	9550275	C	A	18	9550277	y	y	splicing	PPP4R1(NM_005134:exon18:c.2361+1G>T;NM_001042388:exon18:c.2412+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2361+1G>T;ENST00000400556:exon18:c.2412+1G>T;ENST00000285124:exon18:c.2379+1G>T)	.	.	0.999990361384395	0.938
18	9550275	C	G	18	9550277	y	y	splicing	PPP4R1(NM_005134:exon18:c.2361+1G>C;NM_001042388:exon18:c.2412+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2361+1G>C;ENST00000400556:exon18:c.2412+1G>C;ENST00000285124:exon18:c.2379+1G>C)	.	.	0.999990361384395	0.938
18	9550275	C	T	18	9550277	y	y	splicing	PPP4R1(NM_005134:exon18:c.2361+1G>A;NM_001042388:exon18:c.2412+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2361+1G>A;ENST00000400556:exon18:c.2412+1G>A;ENST00000285124:exon18:c.2379+1G>A)	.	.	0.999990361384395	0.938
18	9550276	C	A	18	9550278	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.G2361T:p.L787F;PPP4R1:NM_001042388:exon17:c.G2412T:p.L804F;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.G2412T:p.L804F;ENSG00000154845:ENST00000400555:exon17:c.G2361T:p.L787F;	0.999987697658815	0.996
18	9550276	C	G	18	9550278	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.G2361C:p.L787F;PPP4R1:NM_001042388:exon17:c.G2412C:p.L804F;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.G2412C:p.L804F;ENSG00000154845:ENST00000400555:exon17:c.G2361C:p.L787F;	0.999992218065595	0.988
18	9550276	C	T	18	9550278	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon17:c.G2361A:p.L787L;PPP4R1:NM_001042388:exon17:c.G2412A:p.L804L;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.G2412A:p.L804L;ENSG00000154845:ENST00000400555:exon17:c.G2361A:p.L787L;	0.99998849917902	0.998
18	9550277	A	C	18	9550279	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.T2360G:p.L787W;PPP4R1:NM_001042388:exon17:c.T2411G:p.L804W;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.T2411G:p.L804W;ENSG00000154845:ENST00000400555:exon17:c.T2360G:p.L787W;	0.865960643302276	0.768
18	9550277	A	G	18	9550279	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.T2360C:p.L787S;PPP4R1:NM_001042388:exon17:c.T2411C:p.L804S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.T2411C:p.L804S;ENSG00000154845:ENST00000400555:exon17:c.T2360C:p.L787S;	0.984220953989421	0.948
18	9550277	A	T	18	9550279	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon17:c.T2360A:p.L787X;PPP4R1:NM_001042388:exon17:c.T2411A:p.L804X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon17:c.T2411A:p.L804X;ENSG00000154845:ENST00000400555:exon17:c.T2360A:p.L787X;	0.845402343809677	0.694
18	9550278	A	C	18	9550280	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.T2359G:p.L787V;PPP4R1:NM_001042388:exon17:c.T2410G:p.L804V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.T2410G:p.L804V;ENSG00000154845:ENST00000400555:exon17:c.T2359G:p.L787V;	1.1223136460749E-4	0.262
18	9550278	A	G	18	9550280	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon17:c.T2359C:p.L787L;PPP4R1:NM_001042388:exon17:c.T2410C:p.L804L;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.T2410C:p.L804L;ENSG00000154845:ENST00000400555:exon17:c.T2359C:p.L787L;	7.8991797577118E-5	0.044
18	9550278	A	T	18	9550280	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.T2359A:p.L787M;PPP4R1:NM_001042388:exon17:c.T2410A:p.L804M;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.T2410A:p.L804M;ENSG00000154845:ENST00000400555:exon17:c.T2359A:p.L787M;	1.8872499293383E-4	0.308
18	9550395	G	A	18	9550397	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon17:c.C2242T:p.Q748X;PPP4R1:NM_001042388:exon17:c.C2293T:p.Q765X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon17:c.C2293T:p.Q765X;ENSG00000154845:ENST00000400555:exon17:c.C2242T:p.Q748X;	0.986475172586073	0.9
18	9550395	G	C	18	9550397	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.C2242G:p.Q748E;PPP4R1:NM_001042388:exon17:c.C2293G:p.Q765E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.C2293G:p.Q765E;ENSG00000154845:ENST00000400555:exon17:c.C2242G:p.Q748E;	0.981733910704763	0.778
18	9550395	G	T	18	9550397	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.C2242A:p.Q748K;PPP4R1:NM_001042388:exon17:c.C2293A:p.Q765K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.C2293A:p.Q765K;ENSG00000154845:ENST00000400555:exon17:c.C2242A:p.Q748K;	0.992140329786837	0.96
18	9550396	T	A	18	9550398	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.A2241T:p.E747D;PPP4R1:NM_001042388:exon17:c.A2292T:p.E764D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.A2292T:p.E764D;ENSG00000154845:ENST00000400555:exon17:c.A2241T:p.E747D;	1.67843166214515E-4	0.168
18	9550396	T	C	18	9550398	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon17:c.A2241G:p.E747E;PPP4R1:NM_001042388:exon17:c.A2292G:p.E764E;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.A2292G:p.E764E;ENSG00000154845:ENST00000400555:exon17:c.A2241G:p.E747E;	2.23045789814177E-5	0.002
18	9550396	T	G	18	9550398	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon17:c.A2241C:p.E747D;PPP4R1:NM_001042388:exon17:c.A2292C:p.E764D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon17:c.A2292C:p.E764D;ENSG00000154845:ENST00000400555:exon17:c.A2241C:p.E747D;	1.61274578760279E-4	0.164
18	9550397	C	A	18	9550399	y	y	splicing	PPP4R1(NM_005134:exon18:c.2241-1G>T;NM_001042388:exon18:c.2292-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2241-1G>T;ENST00000400556:exon18:c.2292-1G>T;ENST00000285124:exon18:c.2259-1G>T)	.	.	0.999990361384395	0.938
18	9550397	C	G	18	9550399	y	y	splicing	PPP4R1(NM_005134:exon18:c.2241-1G>C;NM_001042388:exon18:c.2292-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2241-1G>C;ENST00000400556:exon18:c.2292-1G>C;ENST00000285124:exon18:c.2259-1G>C)	.	.	0.999990361384395	0.938
18	9550397	C	T	18	9550399	y	y	splicing	PPP4R1(NM_005134:exon18:c.2241-1G>A;NM_001042388:exon18:c.2292-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2241-1G>A;ENST00000400556:exon18:c.2292-1G>A;ENST00000285124:exon18:c.2259-1G>A)	.	.	0.999990361384395	0.938
18	9550398	T	A	18	9550400	y	y	splicing	PPP4R1(NM_005134:exon18:c.2241-2A>T;NM_001042388:exon18:c.2292-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2241-2A>T;ENST00000400556:exon18:c.2292-2A>T;ENST00000285124:exon18:c.2259-2A>T)	.	.	0.999988247793601	0.932
18	9550398	T	C	18	9550400	y	y	splicing	PPP4R1(NM_005134:exon18:c.2241-2A>G;NM_001042388:exon18:c.2292-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2241-2A>G;ENST00000400556:exon18:c.2292-2A>G;ENST00000285124:exon18:c.2259-2A>G)	.	.	0.999988247793601	0.932
18	9550398	T	G	18	9550400	y	y	splicing	PPP4R1(NM_005134:exon18:c.2241-2A>C;NM_001042388:exon18:c.2292-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon18:c.2241-2A>C;ENST00000400556:exon18:c.2292-2A>C;ENST00000285124:exon18:c.2259-2A>C)	.	.	0.999988247793601	0.932
18	9550399	A	C	18	9550401	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996354644877234	0.74
18	9550399	A	G	18	9550401	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.99128510153141E-5	0.02
18	9550399	A	T	18	9550401	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.20494220887525	0.26
18	9550400	C	A	18	9550402	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.02376579988605E-4	0.008
18	9550400	C	G	18	9550402	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.71865225350354E-5	0.008
18	9550400	C	T	18	9550402	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.66336962353703E-4	0.012
18	9550401	A	C	18	9550403	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.45613514057671	0.458
18	9550401	A	G	18	9550403	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.46038860459774E-4	0.024
18	9550401	A	T	18	9550403	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999920144427826	0.954
18	9550402	A	C	18	9550404	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00292732501875304	0.172
18	9550402	A	G	18	9550404	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.19966227382327E-4	0.012
18	9550402	A	T	18	9550404	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00789301236277874	0.126
18	9550403	A	C	18	9550405	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0148555257514205	0.06
18	9550403	A	G	18	9550405	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.10753577966845E-4	0.014
18	9550403	A	T	18	9550405	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00691033247193261	0.066
18	9550404	A	C	18	9550406	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00203347686557421	0.168
18	9550404	A	G	18	9550406	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.31294779455062E-5	0.0
18	9550404	A	T	18	9550406	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00485205328870656	0.106
18	9550405	A	C	18	9550407	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00133277133600972	0.152
18	9550405	A	G	18	9550407	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.3043814708362E-4	0.006
18	9550405	A	T	18	9550407	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00291069166590831	0.11
18	9550406	G	A	18	9550408	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.73431640081321E-5	0.0
18	9550406	G	C	18	9550408	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.79342709708584E-4	0.016
18	9550406	G	T	18	9550408	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.97986544495977E-4	0.01
18	9550407	G	A	18	9550409	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.5675609313871E-5	0.0
18	9550407	G	C	18	9550409	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0044733747602407	0.168
18	9550407	G	T	18	9550409	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0160174776875334	0.162
18	9550408	A	C	18	9550410	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.121631159624966	0.374
18	9550408	A	G	18	9550410	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00357405834104874	0.098
18	9550408	A	T	18	9550410	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.211192538297393	0.38
18	9553312	G	A	18	9553314	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.2416254384873E-4	0.004
18	9553312	G	C	18	9553314	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.32025213120175E-4	0.0
18	9553312	G	T	18	9553314	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.05874781572238E-5	0.0
18	9553313	A	C	18	9553315	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.32923864581256E-4	0.002
18	9553313	A	G	18	9553315	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.9393328917667E-4	0.006
18	9553313	A	T	18	9553315	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.21003663268387E-4	0.0
18	9553314	A	C	18	9553316	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996796374172858	0.894
18	9553314	A	G	18	9553316	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.997711553162804	0.912
18	9553314	A	T	18	9553316	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.995702063342456	0.804
18	9553315	C	A	18	9553317	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999932584120805	0.98
18	9553315	C	G	18	9553317	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999951634734498	0.988
18	9553315	C	T	18	9553317	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999951184657654	0.992
18	9553316	T	A	18	9553318	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.976654662550265	0.804
18	9553316	T	C	18	9553318	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.983282702836158	0.83
18	9553316	T	G	18	9553318	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998526333814801	0.784
18	9553317	T	A	18	9553319	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99988381766687	0.944
18	9553317	T	C	18	9553319	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.659002028692777	0.514
18	9553317	T	G	18	9553319	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99988381766687	0.932
18	9553318	A	C	18	9553320	y	y	splicing	PPP4R1(NM_005134:exon17:c.2240+2T>G;NM_001042388:exon17:c.2291+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2240+2T>G;ENST00000400556:exon17:c.2291+2T>G;ENST00000285124:exon17:c.2258+2T>G)	.	.	0.999945334207228	0.906
18	9553318	A	G	18	9553320	y	y	splicing	PPP4R1(NM_005134:exon17:c.2240+2T>C;NM_001042388:exon17:c.2291+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2240+2T>C;ENST00000400556:exon17:c.2291+2T>C;ENST00000285124:exon17:c.2258+2T>C)	.	.	0.99816947066055	0.716
18	9553318	A	T	18	9553320	y	y	splicing	PPP4R1(NM_005134:exon17:c.2240+2T>A;NM_001042388:exon17:c.2291+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2240+2T>A;ENST00000400556:exon17:c.2291+2T>A;ENST00000285124:exon17:c.2258+2T>A)	.	.	0.999945334207228	0.904
18	9553319	C	A	18	9553321	y	y	splicing	PPP4R1(NM_005134:exon17:c.2240+1G>T;NM_001042388:exon17:c.2291+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2240+1G>T;ENST00000400556:exon17:c.2291+1G>T;ENST00000285124:exon17:c.2258+1G>T)	.	.	0.999981760802075	0.936
18	9553319	C	G	18	9553321	y	y	splicing	PPP4R1(NM_005134:exon17:c.2240+1G>C;NM_001042388:exon17:c.2291+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2240+1G>C;ENST00000400556:exon17:c.2291+1G>C;ENST00000285124:exon17:c.2258+1G>C)	.	.	0.999981760802075	0.936
18	9553319	C	T	18	9553321	y	y	splicing	PPP4R1(NM_005134:exon17:c.2240+1G>A;NM_001042388:exon17:c.2291+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2240+1G>A;ENST00000400556:exon17:c.2291+1G>A;ENST00000285124:exon17:c.2258+1G>A)	.	.	0.999981760802075	0.938
18	9553320	T	A	18	9553322	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.A2240T:p.E747V;PPP4R1:NM_001042388:exon16:c.A2291T:p.E764V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.A2291T:p.E764V;ENSG00000154845:ENST00000400555:exon16:c.A2240T:p.E747V;	0.631521343544006	0.66
18	9553320	T	C	18	9553322	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.A2240G:p.E747G;PPP4R1:NM_001042388:exon16:c.A2291G:p.E764G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.A2291G:p.E764G;ENSG00000154845:ENST00000400555:exon16:c.A2240G:p.E747G;	0.251765918083502	0.372
18	9553320	T	G	18	9553322	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.A2240C:p.E747A;PPP4R1:NM_001042388:exon16:c.A2291C:p.E764A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.A2291C:p.E764A;ENSG00000154845:ENST00000400555:exon16:c.A2240C:p.E747A;	0.540947872763079	0.782
18	9553321	C	A	18	9553323	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon16:c.G2239T:p.E747X;PPP4R1:NM_001042388:exon16:c.G2290T:p.E764X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon16:c.G2290T:p.E764X;ENSG00000154845:ENST00000400555:exon16:c.G2239T:p.E747X;	0.0529497895622401	0.374
18	9553321	C	G	18	9553323	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.G2239C:p.E747Q;PPP4R1:NM_001042388:exon16:c.G2290C:p.E764Q;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.G2290C:p.E764Q;ENSG00000154845:ENST00000400555:exon16:c.G2239C:p.E747Q;	0.0167709001584705	0.25
18	9553321	C	T	18	9553323	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.G2239A:p.E747K;PPP4R1:NM_001042388:exon16:c.G2290A:p.E764K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.G2290A:p.E764K;ENSG00000154845:ENST00000400555:exon16:c.G2239A:p.E747K;	0.0412943503126832	0.292
18	9553322	A	C	18	9553324	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon16:c.T2238G:p.A746A;PPP4R1:NM_001042388:exon16:c.T2289G:p.A763A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.T2289G:p.A763A;ENSG00000154845:ENST00000400555:exon16:c.T2238G:p.A746A;	5.64113040504703E-5	0.018
18	9553322	A	G	18	9553324	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon16:c.T2238C:p.A746A;PPP4R1:NM_001042388:exon16:c.T2289C:p.A763A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.T2289C:p.A763A;ENSG00000154845:ENST00000400555:exon16:c.T2238C:p.A746A;	4.50822382443594E-5	0.004
18	9553322	A	T	18	9553324	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon16:c.T2238A:p.A746A;PPP4R1:NM_001042388:exon16:c.T2289A:p.A763A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.T2289A:p.A763A;ENSG00000154845:ENST00000400555:exon16:c.T2238A:p.A746A;	3.51811592744097E-5	0.016
18	9553419	A	C	18	9553421	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.T2141G:p.L714R;PPP4R1:NM_001042388:exon16:c.T2192G:p.L731R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.T2192G:p.L731R;ENSG00000154845:ENST00000400555:exon16:c.T2141G:p.L714R;	0.205062503037259	0.48
18	9553419	A	G	18	9553421	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.T2141C:p.L714P;PPP4R1:NM_001042388:exon16:c.T2192C:p.L731P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.T2192C:p.L731P;ENSG00000154845:ENST00000400555:exon16:c.T2141C:p.L714P;	0.195660415858028	0.456
18	9553419	A	T	18	9553421	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.T2141A:p.L714H;PPP4R1:NM_001042388:exon16:c.T2192A:p.L731H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.T2192A:p.L731H;ENSG00000154845:ENST00000400555:exon16:c.T2141A:p.L714H;	0.187949205266451	0.496
18	9553420	G	A	18	9553422	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.C2140T:p.L714F;PPP4R1:NM_001042388:exon16:c.C2191T:p.L731F;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.C2191T:p.L731F;ENSG00000154845:ENST00000400555:exon16:c.C2140T:p.L714F;	0.993784183116972	0.932
18	9553420	G	C	18	9553422	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.C2140G:p.L714V;PPP4R1:NM_001042388:exon16:c.C2191G:p.L731V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.C2191G:p.L731V;ENSG00000154845:ENST00000400555:exon16:c.C2140G:p.L714V;	0.942230261295229	0.554
18	9553420	G	T	18	9553422	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon16:c.C2140A:p.L714I;PPP4R1:NM_001042388:exon16:c.C2191A:p.L731I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon16:c.C2191A:p.L731I;ENSG00000154845:ENST00000400555:exon16:c.C2140A:p.L714I;	0.938692750715947	0.724
18	9553421	C	A	18	9553423	y	y	splicing	PPP4R1(NM_005134:exon17:c.2140-1G>T;NM_001042388:exon17:c.2191-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2140-1G>T;ENST00000400556:exon17:c.2191-1G>T;ENST00000285124:exon17:c.2158-1G>T)	.	.	0.999981760802075	0.936
18	9553421	C	G	18	9553423	y	y	splicing	PPP4R1(NM_005134:exon17:c.2140-1G>C;NM_001042388:exon17:c.2191-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2140-1G>C;ENST00000400556:exon17:c.2191-1G>C;ENST00000285124:exon17:c.2158-1G>C)	.	.	0.999981760802075	0.936
18	9553421	C	T	18	9553423	y	y	splicing	PPP4R1(NM_005134:exon17:c.2140-1G>A;NM_001042388:exon17:c.2191-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2140-1G>A;ENST00000400556:exon17:c.2191-1G>A;ENST00000285124:exon17:c.2158-1G>A)	.	.	0.999981760802075	0.936
18	9553422	T	A	18	9553424	y	y	splicing	PPP4R1(NM_005134:exon17:c.2140-2A>T;NM_001042388:exon17:c.2191-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2140-2A>T;ENST00000400556:exon17:c.2191-2A>T;ENST00000285124:exon17:c.2158-2A>T)	.	.	0.999989917668626	0.926
18	9553422	T	C	18	9553424	y	y	splicing	PPP4R1(NM_005134:exon17:c.2140-2A>G;NM_001042388:exon17:c.2191-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2140-2A>G;ENST00000400556:exon17:c.2191-2A>G;ENST00000285124:exon17:c.2158-2A>G)	.	.	0.999989917668626	0.876
18	9553422	T	G	18	9553424	y	y	splicing	PPP4R1(NM_005134:exon17:c.2140-2A>C;NM_001042388:exon17:c.2191-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon17:c.2140-2A>C;ENST00000400556:exon17:c.2191-2A>C;ENST00000285124:exon17:c.2158-2A>C)	.	.	0.999989917668626	0.896
18	9553423	A	C	18	9553425	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.989399134961413	0.776
18	9553423	A	G	18	9553425	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.50467533986257E-4	0.034
18	9553423	A	T	18	9553425	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0576911802615028	0.328
18	9553424	A	C	18	9553426	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00301070314588203	0.054
18	9553424	A	G	18	9553426	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.63534536760029E-4	0.042
18	9553424	A	T	18	9553426	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.5584183327103E-4	0.044
18	9553425	A	C	18	9553427	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.990323233805582	0.69
18	9553425	A	G	18	9553427	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00180512245586025	0.054
18	9553425	A	T	18	9553427	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.977320034763498	0.706
18	9553426	G	A	18	9553428	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.62336420802313E-4	0.012
18	9553426	G	C	18	9553428	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999821523110633	0.944
18	9553426	G	T	18	9553428	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00584007287118287	0.214
18	9553427	T	A	18	9553429	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.75982580037556E-5	0.01
18	9553427	T	C	18	9553429	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.95955478805303E-5	0.0
18	9553427	T	G	18	9553429	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.06579090697539E-5	0.004
18	9553428	A	C	18	9553430	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.265492772977477	0.356
18	9553428	A	G	18	9553430	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.08641690812175E-4	0.01
18	9553428	A	T	18	9553430	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.233575863167424	0.316
18	9553429	A	C	18	9553431	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.977716596703255	0.8
18	9553429	A	G	18	9553431	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00568618553377386	0.054
18	9553429	A	T	18	9553431	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.979351537369758	0.758
18	9553430	C	A	18	9553432	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0170361127855526	0.2
18	9553430	C	G	18	9553432	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00938255145725355	0.166
18	9553430	C	T	18	9553432	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00284198591110375	0.104
18	9553431	A	C	18	9553433	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.962473826265462	0.628
18	9553431	A	G	18	9553433	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00535726772557644	0.212
18	9553431	A	T	18	9553433	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999988857312545	0.914
18	9553432	A	C	18	9553434	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.390304146836931	0.406
18	9553432	A	G	18	9553434	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.0838829433689E-4	0.064
18	9553432	A	T	18	9553434	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.474581166741485	0.482
18	9557211	A	C	18	9557213	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.26530163999848E-4	0.008
18	9557211	A	G	18	9557213	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.49293461246564E-5	0.0
18	9557211	A	T	18	9557213	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.05425346636526E-4	0.008
18	9557212	A	C	18	9557214	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00158618851262758	0.036
18	9557212	A	G	18	9557214	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00187187112499485	0.008
18	9557212	A	T	18	9557214	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00318884126508221	0.008
18	9557213	A	C	18	9557215	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0037263716372269	0.296
18	9557213	A	G	18	9557215	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0384176562569419	0.314
18	9557213	A	T	18	9557215	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0170346468701099	0.272
18	9557214	G	A	18	9557216	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.42917205803985E-5	0.002
18	9557214	G	C	18	9557216	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.09334487537684E-4	0.014
18	9557214	G	T	18	9557216	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.63666165746033E-5	0.006
18	9557215	T	A	18	9557217	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.995724822007018	0.888
18	9557215	T	C	18	9557217	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.995342403487134	0.888
18	9557215	T	G	18	9557217	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.969498005972216	0.876
18	9557216	T	A	18	9557218	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999917596031747	0.964
18	9557216	T	C	18	9557218	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996991059340979	0.956
18	9557216	T	G	18	9557218	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999789599375685	0.948
18	9557217	A	C	18	9557219	y	y	splicing	PPP4R1(NM_005134:exon16:c.2139+2T>G;NM_001042388:exon16:c.2190+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.2139+2T>G;ENST00000400556:exon16:c.2190+2T>G;ENST00000285124:exon16:c.2157+2T>G)	.	.	0.999988247793601	0.928
18	9557217	A	G	18	9557219	y	y	splicing	PPP4R1(NM_005134:exon16:c.2139+2T>C;NM_001042388:exon16:c.2190+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.2139+2T>C;ENST00000400556:exon16:c.2190+2T>C;ENST00000285124:exon16:c.2157+2T>C)	.	.	0.992783534660112	0.674
18	9557217	A	T	18	9557219	y	y	splicing	PPP4R1(NM_005134:exon16:c.2139+2T>A;NM_001042388:exon16:c.2190+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.2139+2T>A;ENST00000400556:exon16:c.2190+2T>A;ENST00000285124:exon16:c.2157+2T>A)	.	.	0.999988247793601	0.928
18	9557218	C	A	18	9557220	y	y	splicing	PPP4R1(NM_005134:exon16:c.2139+1G>T;NM_001042388:exon16:c.2190+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.2139+1G>T;ENST00000400556:exon16:c.2190+1G>T;ENST00000285124:exon16:c.2157+1G>T)	.	.	0.999985532734767	0.936
18	9557218	C	G	18	9557220	y	y	splicing	PPP4R1(NM_005134:exon16:c.2139+1G>C;NM_001042388:exon16:c.2190+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.2139+1G>C;ENST00000400556:exon16:c.2190+1G>C;ENST00000285124:exon16:c.2157+1G>C)	.	.	0.999985532734767	0.936
18	9557218	C	T	18	9557220	y	y	splicing	PPP4R1(NM_005134:exon16:c.2139+1G>A;NM_001042388:exon16:c.2190+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.2139+1G>A;ENST00000400556:exon16:c.2190+1G>A;ENST00000285124:exon16:c.2157+1G>A)	.	.	0.999985532734767	0.936
18	9557219	C	A	18	9557221	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.G2139T:p.K713N;PPP4R1:NM_001042388:exon15:c.G2190T:p.K730N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.G2190T:p.K730N;ENSG00000154845:ENST00000400555:exon15:c.G2139T:p.K713N;	0.999760060045984	0.96
18	9557219	C	G	18	9557221	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.G2139C:p.K713N;PPP4R1:NM_001042388:exon15:c.G2190C:p.K730N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.G2190C:p.K730N;ENSG00000154845:ENST00000400555:exon15:c.G2139C:p.K713N;	0.999982940970809	0.974
18	9557219	C	T	18	9557221	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon15:c.G2139A:p.K713K;PPP4R1:NM_001042388:exon15:c.G2190A:p.K730K;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.G2190A:p.K730K;ENSG00000154845:ENST00000400555:exon15:c.G2139A:p.K713K;	0.999775320668737	0.996
18	9557220	T	A	18	9557222	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.A2138T:p.K713M;PPP4R1:NM_001042388:exon15:c.A2189T:p.K730M;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.A2189T:p.K730M;ENSG00000154845:ENST00000400555:exon15:c.A2138T:p.K713M;	0.999890039168039	0.998
18	9557220	T	C	18	9557222	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.A2138G:p.K713R;PPP4R1:NM_001042388:exon15:c.A2189G:p.K730R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.A2189G:p.K730R;ENSG00000154845:ENST00000400555:exon15:c.A2138G:p.K713R;	0.999888793448643	0.986
18	9557220	T	G	18	9557222	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.A2138C:p.K713T;PPP4R1:NM_001042388:exon15:c.A2189C:p.K730T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.A2189C:p.K730T;ENSG00000154845:ENST00000400555:exon15:c.A2138C:p.K713T;	0.9994306150737	0.992
18	9557221	T	A	18	9557223	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon15:c.A2137T:p.K713X;PPP4R1:NM_001042388:exon15:c.A2188T:p.K730X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon15:c.A2188T:p.K730X;ENSG00000154845:ENST00000400555:exon15:c.A2137T:p.K713X;	0.996936682630627	0.742
18	9557221	T	C	18	9557223	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.A2137G:p.K713E;PPP4R1:NM_001042388:exon15:c.A2188G:p.K730E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.A2188G:p.K730E;ENSG00000154845:ENST00000400555:exon15:c.A2137G:p.K713E;	0.22182394373803	0.46
18	9557221	T	G	18	9557223	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.A2137C:p.K713Q;PPP4R1:NM_001042388:exon15:c.A2188C:p.K730Q;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.A2188C:p.K730Q;ENSG00000154845:ENST00000400555:exon15:c.A2137C:p.K713Q;	0.581804602128799	0.68
18	9557379	C	A	18	9557381	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.G1979T:p.W660L;PPP4R1:NM_001042388:exon15:c.G2030T:p.W677L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.G2030T:p.W677L;ENSG00000154845:ENST00000400555:exon15:c.G1979T:p.W660L;	0.98628329272932	0.876
18	9557379	C	G	18	9557381	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.G1979C:p.W660S;PPP4R1:NM_001042388:exon15:c.G2030C:p.W677S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.G2030C:p.W677S;ENSG00000154845:ENST00000400555:exon15:c.G1979C:p.W660S;	0.990811693613874	0.828
18	9557379	C	T	18	9557381	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon15:c.G1979A:p.W660X;PPP4R1:NM_001042388:exon15:c.G2030A:p.W677X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon15:c.G2030A:p.W677X;ENSG00000154845:ENST00000400555:exon15:c.G1979A:p.W660X;	0.994647611732171	0.816
18	9557380	A	C	18	9557382	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.T1978G:p.W660G;PPP4R1:NM_001042388:exon15:c.T2029G:p.W677G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.T2029G:p.W677G;ENSG00000154845:ENST00000400555:exon15:c.T1978G:p.W660G;	0.78402916106347	0.592
18	9557380	A	G	18	9557382	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.T1978C:p.W660R;PPP4R1:NM_001042388:exon15:c.T2029C:p.W677R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.T2029C:p.W677R;ENSG00000154845:ENST00000400555:exon15:c.T1978C:p.W660R;	0.868537060056008	0.758
18	9557380	A	T	18	9557382	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon15:c.T1978A:p.W660R;PPP4R1:NM_001042388:exon15:c.T2029A:p.W677R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon15:c.T2029A:p.W677R;ENSG00000154845:ENST00000400555:exon15:c.T1978A:p.W660R;	0.720529420118802	0.672
18	9557381	C	A	18	9557383	y	y	splicing	PPP4R1(NM_005134:exon16:c.1978-1G>T;NM_001042388:exon16:c.2029-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.1978-1G>T;ENST00000400556:exon16:c.2029-1G>T;ENST00000285124:exon16:c.1996-1G>T)	.	.	0.999990361384395	0.952
18	9557381	C	G	18	9557383	y	y	splicing	PPP4R1(NM_005134:exon16:c.1978-1G>C;NM_001042388:exon16:c.2029-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.1978-1G>C;ENST00000400556:exon16:c.2029-1G>C;ENST00000285124:exon16:c.1996-1G>C)	.	.	0.999990361384395	0.952
18	9557381	C	T	18	9557383	y	y	splicing	PPP4R1(NM_005134:exon16:c.1978-1G>A;NM_001042388:exon16:c.2029-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.1978-1G>A;ENST00000400556:exon16:c.2029-1G>A;ENST00000285124:exon16:c.1996-1G>A)	.	.	0.999990361384395	0.952
18	9557382	T	A	18	9557384	y	y	splicing	PPP4R1(NM_005134:exon16:c.1978-2A>T;NM_001042388:exon16:c.2029-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.1978-2A>T;ENST00000400556:exon16:c.2029-2A>T;ENST00000285124:exon16:c.1996-2A>T)	.	.	0.999988247793601	0.954
18	9557382	T	C	18	9557384	y	y	splicing	PPP4R1(NM_005134:exon16:c.1978-2A>G;NM_001042388:exon16:c.2029-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.1978-2A>G;ENST00000400556:exon16:c.2029-2A>G;ENST00000285124:exon16:c.1996-2A>G)	.	.	0.999988247793601	0.954
18	9557382	T	G	18	9557384	y	y	splicing	PPP4R1(NM_005134:exon16:c.1978-2A>C;NM_001042388:exon16:c.2029-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon16:c.1978-2A>C;ENST00000400556:exon16:c.2029-2A>C;ENST00000285124:exon16:c.1996-2A>C)	.	.	0.999988247793601	0.954
18	9557383	G	A	18	9557385	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0108877237708385	0.144
18	9557383	G	C	18	9557385	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999874602978714	0.902
18	9557383	G	T	18	9557385	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.986930117213046	0.736
18	9557384	C	A	18	9557386	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.76296535258357E-4	0.026
18	9557384	C	G	18	9557386	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.54395135613766E-4	0.006
18	9557384	C	T	18	9557386	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.98738090353526E-4	0.008
18	9557385	A	C	18	9557387	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.918555133311155	0.696
18	9557385	A	G	18	9557387	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0739880972029096	0.14
18	9557385	A	T	18	9557387	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999869237714413	0.904
18	9557386	G	A	18	9557388	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.24989006931577E-5	0.004
18	9557386	G	C	18	9557388	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00616223157644724	0.184
18	9557386	G	T	18	9557388	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0112756289557624	0.254
18	9557387	A	C	18	9557389	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0121072059171498	0.128
18	9557387	A	G	18	9557389	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.63196244797115E-4	0.116
18	9557387	A	T	18	9557389	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0177044763468844	0.194
18	9557388	A	C	18	9557390	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00289445016231894	0.108
18	9557388	A	G	18	9557390	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.91973695305386E-5	0.02
18	9557388	A	T	18	9557390	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00423656019792429	0.16
18	9557389	A	C	18	9557391	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999933257531504	0.878
18	9557389	A	G	18	9557391	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.66934464476209E-4	0.122
18	9557389	A	T	18	9557391	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00138208527511162	0.168
18	9557390	T	A	18	9557392	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.27639626252637E-5	0.044
18	9557390	T	C	18	9557392	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.9274026414879E-4	0.078
18	9557390	T	G	18	9557392	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.89869260941617E-5	0.054
18	9557391	G	A	18	9557393	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.65347084913243E-6	0.006
18	9557391	G	C	18	9557393	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00138349491859303	0.134
18	9557391	G	T	18	9557393	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.90780542964707E-4	0.172
18	9557392	A	C	18	9557394	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0234492442539059	0.21
18	9557392	A	G	18	9557394	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00274755135062425	0.09
18	9557392	A	T	18	9557394	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0332287374673683	0.302
18	9559409	T	A	18	9559411	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.14395500451743E-4	0.032
18	9559409	T	C	18	9559411	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.31808455639255E-4	0.03
18	9559409	T	G	18	9559411	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.50353606863553E-4	0.044
18	9559410	T	A	18	9559412	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.75521372033315E-5	0.002
18	9559410	T	C	18	9559412	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.61275418791741E-5	0.004
18	9559410	T	G	18	9559412	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.55800806316548E-5	0.002
18	9559411	A	C	18	9559413	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0112479186942862	0.238
18	9559411	A	G	18	9559413	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0171449568770983	0.316
18	9559411	A	T	18	9559413	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0273393787676849	0.294
18	9559412	C	A	18	9559414	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.997825017385577	0.914
18	9559412	C	G	18	9559414	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.997053369013071	0.862
18	9559412	C	T	18	9559414	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998170808795557	0.886
18	9559413	T	A	18	9559415	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.500346238298259	0.374
18	9559413	T	C	18	9559415	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.611059124224452	0.386
18	9559413	T	G	18	9559415	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.232578469184606	0.308
18	9559414	C	A	18	9559416	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.925639629129742	0.67
18	9559414	C	G	18	9559416	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.98270451458899	0.734
18	9559414	C	T	18	9559416	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00981687059712124	0.106
18	9559415	A	C	18	9559417	y	y	splicing	PPP4R1(NM_005134:exon15:c.1977+2T>G;NM_001042388:exon15:c.2028+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1977+2T>G;ENST00000400556:exon15:c.2028+2T>G;ENST00000285124:exon15:c.1995+2T>G)	.	.	0.999963838970064	0.9
18	9559415	A	G	18	9559417	y	y	splicing	PPP4R1(NM_005134:exon15:c.1977+2T>C;NM_001042388:exon15:c.2028+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1977+2T>C;ENST00000400556:exon15:c.2028+2T>C;ENST00000285124:exon15:c.1995+2T>C)	.	.	0.999867439579266	0.828
18	9559415	A	T	18	9559417	y	y	splicing	PPP4R1(NM_005134:exon15:c.1977+2T>A;NM_001042388:exon15:c.2028+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1977+2T>A;ENST00000400556:exon15:c.2028+2T>A;ENST00000285124:exon15:c.1995+2T>A)	.	.	0.999963838970064	0.902
18	9559416	C	A	18	9559418	y	y	splicing	PPP4R1(NM_005134:exon15:c.1977+1G>T;NM_001042388:exon15:c.2028+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1977+1G>T;ENST00000400556:exon15:c.2028+1G>T;ENST00000285124:exon15:c.1995+1G>T)	.	.	0.999985532734767	0.936
18	9559416	C	G	18	9559418	y	y	splicing	PPP4R1(NM_005134:exon15:c.1977+1G>C;NM_001042388:exon15:c.2028+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1977+1G>C;ENST00000400556:exon15:c.2028+1G>C;ENST00000285124:exon15:c.1995+1G>C)	.	.	0.999985532734767	0.936
18	9559416	C	T	18	9559418	y	y	splicing	PPP4R1(NM_005134:exon15:c.1977+1G>A;NM_001042388:exon15:c.2028+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1977+1G>A;ENST00000400556:exon15:c.2028+1G>A;ENST00000285124:exon15:c.1995+1G>A)	.	.	0.999985532734767	0.936
18	9559417	C	A	18	9559419	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.G1977T:p.Q659H;PPP4R1:NM_001042388:exon14:c.G2028T:p.Q676H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.G2028T:p.Q676H;ENSG00000154845:ENST00000400555:exon14:c.G1977T:p.Q659H;	0.997621505555736	0.94
18	9559417	C	G	18	9559419	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.G1977C:p.Q659H;PPP4R1:NM_001042388:exon14:c.G2028C:p.Q676H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.G2028C:p.Q676H;ENSG00000154845:ENST00000400555:exon14:c.G1977C:p.Q659H;	0.997579195617259	0.892
18	9559417	C	T	18	9559419	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon14:c.G1977A:p.Q659Q;PPP4R1:NM_001042388:exon14:c.G2028A:p.Q676Q;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.G2028A:p.Q676Q;ENSG00000154845:ENST00000400555:exon14:c.G1977A:p.Q659Q;	0.974624058386693	0.87
18	9559418	T	A	18	9559420	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.A1976T:p.Q659L;PPP4R1:NM_001042388:exon14:c.A2027T:p.Q676L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.A2027T:p.Q676L;ENSG00000154845:ENST00000400555:exon14:c.A1976T:p.Q659L;	0.984621198117688	0.59
18	9559418	T	C	18	9559420	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.A1976G:p.Q659R;PPP4R1:NM_001042388:exon14:c.A2027G:p.Q676R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.A2027G:p.Q676R;ENSG00000154845:ENST00000400555:exon14:c.A1976G:p.Q659R;	0.992080928442566	0.918
18	9559418	T	G	18	9559420	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.A1976C:p.Q659P;PPP4R1:NM_001042388:exon14:c.A2027C:p.Q676P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.A2027C:p.Q676P;ENSG00000154845:ENST00000400555:exon14:c.A1976C:p.Q659P;	0.989282441333686	0.794
18	9559419	G	A	18	9559421	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon14:c.C1975T:p.Q659X;PPP4R1:NM_001042388:exon14:c.C2026T:p.Q676X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon14:c.C2026T:p.Q676X;ENSG00000154845:ENST00000400555:exon14:c.C1975T:p.Q659X;	0.994420796739019	0.814
18	9559419	G	C	18	9559421	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.C1975G:p.Q659E;PPP4R1:NM_001042388:exon14:c.C2026G:p.Q676E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.C2026G:p.Q676E;ENSG00000154845:ENST00000400555:exon14:c.C1975G:p.Q659E;	0.899597776002655	0.626
18	9559419	G	T	18	9559421	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.C1975A:p.Q659K;PPP4R1:NM_001042388:exon14:c.C2026A:p.Q676K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.C2026A:p.Q676K;ENSG00000154845:ENST00000400555:exon14:c.C1975A:p.Q659K;	0.939864048246495	0.838
18	9559601	T	A	18	9559603	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.A1793T:p.D598V;PPP4R1:NM_001042388:exon14:c.A1844T:p.D615V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.A1844T:p.D615V;ENSG00000154845:ENST00000400555:exon14:c.A1793T:p.D598V;	0.757303341684267	0.812
18	9559601	T	C	18	9559603	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.A1793G:p.D598G;PPP4R1:NM_001042388:exon14:c.A1844G:p.D615G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.A1844G:p.D615G;ENSG00000154845:ENST00000400555:exon14:c.A1793G:p.D598G;	0.702694236073712	0.674
18	9559601	T	G	18	9559603	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.A1793C:p.D598A;PPP4R1:NM_001042388:exon14:c.A1844C:p.D615A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.A1844C:p.D615A;ENSG00000154845:ENST00000400555:exon14:c.A1793C:p.D598A;	0.754035403670877	0.76
18	9559602	C	A	18	9559604	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.G1792T:p.D598Y;PPP4R1:NM_001042388:exon14:c.G1843T:p.D615Y;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.G1843T:p.D615Y;ENSG00000154845:ENST00000400555:exon14:c.G1792T:p.D598Y;	0.999786232394465	0.998
18	9559602	C	G	18	9559604	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.G1792C:p.D598H;PPP4R1:NM_001042388:exon14:c.G1843C:p.D615H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.G1843C:p.D615H;ENSG00000154845:ENST00000400555:exon14:c.G1792C:p.D598H;	0.999705996211163	0.936
18	9559602	C	T	18	9559604	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon14:c.G1792A:p.D598N;PPP4R1:NM_001042388:exon14:c.G1843A:p.D615N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon14:c.G1843A:p.D615N;ENSG00000154845:ENST00000400555:exon14:c.G1792A:p.D598N;	0.998252702801541	0.924
18	9559603	C	A	18	9559605	y	y	splicing	PPP4R1(NM_005134:exon15:c.1792-1G>T;NM_001042388:exon15:c.1843-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1792-1G>T;ENST00000400556:exon15:c.1843-1G>T;ENST00000285124:exon15:c.1810-1G>T)	.	.	0.999985532734767	0.936
18	9559603	C	G	18	9559605	y	y	splicing	PPP4R1(NM_005134:exon15:c.1792-1G>C;NM_001042388:exon15:c.1843-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1792-1G>C;ENST00000400556:exon15:c.1843-1G>C;ENST00000285124:exon15:c.1810-1G>C)	.	.	0.999985532734767	0.936
18	9559603	C	T	18	9559605	y	y	splicing	PPP4R1(NM_005134:exon15:c.1792-1G>A;NM_001042388:exon15:c.1843-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1792-1G>A;ENST00000400556:exon15:c.1843-1G>A;ENST00000285124:exon15:c.1810-1G>A)	.	.	0.999985532734767	0.936
18	9559604	T	A	18	9559606	y	y	splicing	PPP4R1(NM_005134:exon15:c.1792-2A>T;NM_001042388:exon15:c.1843-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1792-2A>T;ENST00000400556:exon15:c.1843-2A>T;ENST00000285124:exon15:c.1810-2A>T)	.	.	0.999988247793601	0.928
18	9559604	T	C	18	9559606	y	y	splicing	PPP4R1(NM_005134:exon15:c.1792-2A>G;NM_001042388:exon15:c.1843-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1792-2A>G;ENST00000400556:exon15:c.1843-2A>G;ENST00000285124:exon15:c.1810-2A>G)	.	.	0.999988247793601	0.928
18	9559604	T	G	18	9559606	y	y	splicing	PPP4R1(NM_005134:exon15:c.1792-2A>C;NM_001042388:exon15:c.1843-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon15:c.1792-2A>C;ENST00000400556:exon15:c.1843-2A>C;ENST00000285124:exon15:c.1810-2A>C)	.	.	0.999988247793601	0.928
18	9559605	A	C	18	9559607	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.944111712647242	0.698
18	9559605	A	G	18	9559607	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.85532275426108E-5	0.006
18	9559605	A	T	18	9559607	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0096235618039205	0.22
18	9559606	A	C	18	9559608	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.966502768520491	0.57
18	9559606	A	G	18	9559608	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.6414246011525E-5	0.006
18	9559606	A	T	18	9559608	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.92054763722587E-4	0.008
18	9559607	T	A	18	9559609	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.15324840933896E-5	0.022
18	9559607	T	C	18	9559609	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.0266030276604E-4	0.022
18	9559607	T	G	18	9559609	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.74364703508302E-5	0.01
18	9559608	G	A	18	9559610	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.7806221373953E-5	0.004
18	9559608	G	C	18	9559610	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00122566451642098	0.096
18	9559608	G	T	18	9559610	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00138359340932112	0.168
18	9559609	G	A	18	9559611	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.2958609081358E-5	0.014
18	9559609	G	C	18	9559611	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00182082010676865	0.072
18	9559609	G	T	18	9559611	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00180191169090699	0.086
18	9559610	A	C	18	9559612	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.02184649183943E-4	0.046
18	9559610	A	G	18	9559612	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.22214266874735E-5	0.024
18	9559610	A	T	18	9559612	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.32281329723016E-4	0.064
18	9559611	G	A	18	9559613	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0113568373697718	0.242
18	9559611	G	C	18	9559613	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0176355675550966	0.082
18	9559611	G	T	18	9559613	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0497229822285539	0.14
18	9559612	A	C	18	9559614	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.43860972432987E-4	0.14
18	9559612	A	G	18	9559614	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.0564266681863E-5	0.032
18	9559612	A	T	18	9559614	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.38869791958198E-4	0.196
18	9559613	A	C	18	9559615	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.009488879274E-4	0.178
18	9559613	A	G	18	9559615	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.54067511023869E-5	0.128
18	9559613	A	T	18	9559615	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00135007522026184	0.3
18	9559614	A	C	18	9559616	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.47169263430524E-4	0.128
18	9559614	A	G	18	9559616	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.72591775094859E-5	0.034
18	9559614	A	T	18	9559616	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.654058857184E-4	0.124
18	9561970	T	A	18	9561972	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.28505895936581E-4	0.01
18	9561970	T	C	18	9561972	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.33195002958027E-5	0.04
18	9561970	T	G	18	9561972	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.28505895936581E-4	0.012
18	9561971	C	A	18	9561973	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.42257032480281E-5	0.006
18	9561971	C	G	18	9561973	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.12786175346948E-5	0.0
18	9561971	C	T	18	9561973	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.37112408906228E-5	0.0
18	9561972	A	C	18	9561974	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.11056360282733	0.38
18	9561972	A	G	18	9561974	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.562151744281448	0.502
18	9561972	A	T	18	9561974	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.632836563339773	0.434
18	9561973	C	A	18	9561975	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.994606726903043	0.898
18	9561973	C	G	18	9561975	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996269833614831	0.884
18	9561973	C	T	18	9561975	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99270318807974	0.9
18	9561974	T	A	18	9561976	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.739753289686318	0.468
18	9561974	T	C	18	9561976	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.889591175134038	0.62
18	9561974	T	G	18	9561976	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.476380995410709	0.388
18	9561975	T	A	18	9561977	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.43016857500616	0.342
18	9561975	T	C	18	9561977	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.10638524381885E-4	0.012
18	9561975	T	G	18	9561977	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.796643432425605	0.41
18	9561976	A	C	18	9561978	y	y	splicing	PPP4R1(NM_005134:exon14:c.1791+2T>G;NM_001042388:exon14:c.1842+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1791+2T>G;ENST00000400556:exon14:c.1842+2T>G;ENST00000285124:exon14:c.1809+2T>G)	.	.	0.999939583170295	0.94
18	9561976	A	G	18	9561978	y	y	splicing	PPP4R1(NM_005134:exon14:c.1791+2T>C;NM_001042388:exon14:c.1842+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1791+2T>C;ENST00000400556:exon14:c.1842+2T>C;ENST00000285124:exon14:c.1809+2T>C)	.	.	0.952499780162538	0.586
18	9561976	A	T	18	9561978	y	y	splicing	PPP4R1(NM_005134:exon14:c.1791+2T>A;NM_001042388:exon14:c.1842+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1791+2T>A;ENST00000400556:exon14:c.1842+2T>A;ENST00000285124:exon14:c.1809+2T>A)	.	.	0.999939020951004	0.936
18	9561977	C	A	18	9561979	y	y	splicing	PPP4R1(NM_005134:exon14:c.1791+1G>T;NM_001042388:exon14:c.1842+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1791+1G>T;ENST00000400556:exon14:c.1842+1G>T;ENST00000285124:exon14:c.1809+1G>T)	.	.	0.999985532734767	0.936
18	9561977	C	G	18	9561979	y	y	splicing	PPP4R1(NM_005134:exon14:c.1791+1G>C;NM_001042388:exon14:c.1842+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1791+1G>C;ENST00000400556:exon14:c.1842+1G>C;ENST00000285124:exon14:c.1809+1G>C)	.	.	0.999974090184857	0.936
18	9561977	C	T	18	9561979	y	y	splicing	PPP4R1(NM_005134:exon14:c.1791+1G>A;NM_001042388:exon14:c.1842+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1791+1G>A;ENST00000400556:exon14:c.1842+1G>A;ENST00000285124:exon14:c.1809+1G>A)	.	.	0.999985532734767	0.936
18	9561978	T	A	18	9561980	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1791T:p.Q597H;PPP4R1:NM_001042388:exon13:c.A1842T:p.Q614H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1842T:p.Q614H;ENSG00000154845:ENST00000400555:exon13:c.A1791T:p.Q597H;	1.68604646470759E-4	0.136
18	9561978	T	C	18	9561980	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon13:c.A1791G:p.Q597Q;PPP4R1:NM_001042388:exon13:c.A1842G:p.Q614Q;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1842G:p.Q614Q;ENSG00000154845:ENST00000400555:exon13:c.A1791G:p.Q597Q;	4.64490515457716E-5	0.046
18	9561978	T	G	18	9561980	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1791C:p.Q597H;PPP4R1:NM_001042388:exon13:c.A1842C:p.Q614H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1842C:p.Q614H;ENSG00000154845:ENST00000400555:exon13:c.A1791C:p.Q597H;	2.13171928222841E-5	0.088
18	9561979	T	A	18	9561981	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1790T:p.Q597L;PPP4R1:NM_001042388:exon13:c.A1841T:p.Q614L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1841T:p.Q614L;ENSG00000154845:ENST00000400555:exon13:c.A1790T:p.Q597L;	0.992532527866955	0.826
18	9561979	T	C	18	9561981	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1790G:p.Q597R;PPP4R1:NM_001042388:exon13:c.A1841G:p.Q614R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1841G:p.Q614R;ENSG00000154845:ENST00000400555:exon13:c.A1790G:p.Q597R;	0.991330321161048	0.93
18	9561979	T	G	18	9561981	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1790C:p.Q597P;PPP4R1:NM_001042388:exon13:c.A1841C:p.Q614P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1841C:p.Q614P;ENSG00000154845:ENST00000400555:exon13:c.A1790C:p.Q597P;	0.99249388180837	0.93
18	9561980	G	A	18	9561982	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon13:c.C1789T:p.Q597X;PPP4R1:NM_001042388:exon13:c.C1840T:p.Q614X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon13:c.C1840T:p.Q614X;ENSG00000154845:ENST00000400555:exon13:c.C1789T:p.Q597X;	0.722263647622691	0.604
18	9561980	G	C	18	9561982	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.C1789G:p.Q597E;PPP4R1:NM_001042388:exon13:c.C1840G:p.Q614E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.C1840G:p.Q614E;ENSG00000154845:ENST00000400555:exon13:c.C1789G:p.Q597E;	0.00562990842958105	0.228
18	9561980	G	T	18	9561982	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.C1789A:p.Q597K;PPP4R1:NM_001042388:exon13:c.C1840A:p.Q614K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.C1840A:p.Q614K;ENSG00000154845:ENST00000400555:exon13:c.C1789A:p.Q597K;	0.0111976240693239	0.31
18	9562072	T	A	18	9562074	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1697T:p.N566I;PPP4R1:NM_001042388:exon13:c.A1748T:p.N583I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1748T:p.N583I;ENSG00000154845:ENST00000400555:exon13:c.A1697T:p.N566I;	1.62109371878293E-5	0.0
18	9562072	T	C	18	9562074	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1697G:p.N566S;PPP4R1:NM_001042388:exon13:c.A1748G:p.N583S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1748G:p.N583S;ENSG00000154845:ENST00000400555:exon13:c.A1697G:p.N566S;	4.0369199162615E-5	0.07
18	9562072	T	G	18	9562074	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1697C:p.N566T;PPP4R1:NM_001042388:exon13:c.A1748C:p.N583T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1748C:p.N583T;ENSG00000154845:ENST00000400555:exon13:c.A1697C:p.N566T;	4.20483958883887E-5	0.0
18	9562073	T	A	18	9562075	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1696T:p.N566Y;PPP4R1:NM_001042388:exon13:c.A1747T:p.N583Y;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1747T:p.N583Y;ENSG00000154845:ENST00000400555:exon13:c.A1696T:p.N566Y;	0.00704364550882073	0.118
18	9562073	T	C	18	9562075	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1696G:p.N566D;PPP4R1:NM_001042388:exon13:c.A1747G:p.N583D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1747G:p.N583D;ENSG00000154845:ENST00000400555:exon13:c.A1696G:p.N566D;	1.0910562011439E-4	0.004
18	9562073	T	G	18	9562075	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon13:c.A1696C:p.N566H;PPP4R1:NM_001042388:exon13:c.A1747C:p.N583H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon13:c.A1747C:p.N583H;ENSG00000154845:ENST00000400555:exon13:c.A1696C:p.N566H;	0.00165128695248994	0.078
18	9562074	C	A	18	9562076	y	y	splicing	PPP4R1(NM_005134:exon14:c.1696-1G>T;NM_001042388:exon14:c.1747-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1696-1G>T;ENST00000400556:exon14:c.1747-1G>T;ENST00000285124:exon14:c.1714-1G>T)	.	.	0.999980795553335	0.772
18	9562074	C	G	18	9562076	y	y	splicing	PPP4R1(NM_005134:exon14:c.1696-1G>C;NM_001042388:exon14:c.1747-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1696-1G>C;ENST00000400556:exon14:c.1747-1G>C;ENST00000285124:exon14:c.1714-1G>C)	.	.	0.99998692511496	0.772
18	9562074	C	T	18	9562076	y	y	splicing	PPP4R1(NM_005134:exon14:c.1696-1G>A;NM_001042388:exon14:c.1747-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1696-1G>A;ENST00000400556:exon14:c.1747-1G>A;ENST00000285124:exon14:c.1714-1G>A)	.	.	0.999975694284506	0.768
18	9562075	T	A	18	9562077	y	y	splicing	PPP4R1(NM_005134:exon14:c.1696-2A>T;NM_001042388:exon14:c.1747-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1696-2A>T;ENST00000400556:exon14:c.1747-2A>T;ENST00000285124:exon14:c.1714-2A>T)	.	.	0.999984399620937	0.742
18	9562075	T	C	18	9562077	y	y	splicing	PPP4R1(NM_005134:exon14:c.1696-2A>G;NM_001042388:exon14:c.1747-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1696-2A>G;ENST00000400556:exon14:c.1747-2A>G;ENST00000285124:exon14:c.1714-2A>G)	.	.	0.999989378869813	0.75
18	9562075	T	G	18	9562077	y	y	splicing	PPP4R1(NM_005134:exon14:c.1696-2A>C;NM_001042388:exon14:c.1747-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon14:c.1696-2A>C;ENST00000400556:exon14:c.1747-2A>C;ENST00000285124:exon14:c.1714-2A>C)	.	.	0.999989378869813	0.75
18	9562076	G	A	18	9562078	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0273856901188765	0.244
18	9562076	G	C	18	9562078	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999677153206418	0.938
18	9562076	G	T	18	9562078	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.990148332684634	0.786
18	9562077	T	A	18	9562079	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.94125639469983E-4	0.018
18	9562077	T	C	18	9562079	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.818995990867654	0.676
18	9562077	T	G	18	9562079	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.23628301036878E-4	0.058
18	9562078	T	A	18	9562080	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.31378247454735E-5	0.002
18	9562078	T	C	18	9562080	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.42279727458619E-5	0.006
18	9562078	T	G	18	9562080	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.24155170016694E-6	0.004
18	9562079	A	C	18	9562081	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.75922894505781E-4	0.18
18	9562079	A	G	18	9562081	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.55108355612379E-5	0.0
18	9562079	A	T	18	9562081	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.73390188775064E-4	0.058
18	9562080	G	A	18	9562082	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.13875441987032E-4	0.036
18	9562080	G	C	18	9562082	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0293233074903211	0.284
18	9562080	G	T	18	9562082	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0384383985716169	0.316
18	9562081	G	A	18	9562083	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.81616313387862E-5	0.0
18	9562081	G	C	18	9562083	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00110958992435571	0.126
18	9562081	G	T	18	9562083	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.57849399748805E-4	0.082
18	9562082	A	C	18	9562084	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.011477515386097	0.23
18	9562082	A	G	18	9562084	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.0811792393108E-4	0.068
18	9562082	A	T	18	9562084	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0439736839042229	0.27
18	9562083	A	C	18	9562085	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00159418360692897	0.112
18	9562083	A	G	18	9562085	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.16750667615498E-4	0.006
18	9562083	A	T	18	9562085	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.09416757632703E-4	0.062
18	9562084	A	C	18	9562086	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.55312052672689E-4	0.04
18	9562084	A	G	18	9562086	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00268145103377994	0.02
18	9562084	A	T	18	9562086	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00428809087176368	0.13
18	9562085	A	C	18	9562087	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00190771584751285	0.086
18	9562085	A	G	18	9562087	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.97320485839289E-5	0.004
18	9562085	A	T	18	9562087	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00119374932322866	0.078
18	9562912	G	A	18	9562914	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.841113190748088	0.682
18	9562912	G	C	18	9562914	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.758443691625042	0.554
18	9562912	G	T	18	9562914	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.758443691625042	0.58
18	9562913	T	A	18	9562915	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.492243215047834	0.666
18	9562913	T	C	18	9562915	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.247557781323333	0.53
18	9562913	T	G	18	9562915	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.399150606717926	0.546
18	9562914	A	C	18	9562916	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.430275035116703	0.632
18	9562914	A	G	18	9562916	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.430275035116703	0.628
18	9562914	A	T	18	9562916	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.532258952000143	0.736
18	9562915	C	A	18	9562917	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.908319202453202	0.654
18	9562915	C	G	18	9562917	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.908319202453202	0.646
18	9562915	C	T	18	9562917	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.908319202453202	0.686
18	9562916	C	A	18	9562918	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.758443691625042	0.65
18	9562916	C	G	18	9562918	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.758443691625042	0.54
18	9562916	C	T	18	9562918	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.841113190748088	0.672
18	9562917	C	A	18	9562919	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.758443691625042	0.618
18	9562917	C	G	18	9562919	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.758443691625042	0.542
18	9562917	C	T	18	9562919	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.841113190748088	0.672
18	9562918	A	C	18	9562920	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1713+2T>G)	.	.	0.827619941387628	0.746
18	9562918	A	G	18	9562920	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1713+2T>C)	.	.	0.827619941387628	0.746
18	9562918	A	T	18	9562920	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1713+2T>A)	.	.	0.867693502443649	0.794
18	9562919	C	A	18	9562921	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1713+1G>T)	.	.	0.995492416658187	0.876
18	9562919	C	G	18	9562921	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1713+1G>C)	.	.	0.992593643826549	0.852
18	9562919	C	T	18	9562921	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1713+1G>A)	.	.	0.994567171775183	0.884
18	9562920	C	A	18	9562922	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.908319202453202	0.686
18	9562920	C	G	18	9562922	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.908319202453202	0.666
18	9562920	C	T	18	9562922	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.957881378785734	0.776
18	9562921	C	A	18	9562923	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.952391170177592	0.698
18	9562921	C	G	18	9562923	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.908319202453202	0.666
18	9562921	C	T	18	9562923	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.957881378785734	0.776
18	9562922	T	A	18	9562924	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.0199063151013829	0.142
18	9562922	T	C	18	9562924	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.0100637101069719	0.106
18	9562922	T	G	18	9562924	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.0100637101069719	0.11
18	9563043	C	A	18	9563045	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.960668988587981	0.732
18	9563043	C	G	18	9563045	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.923645538223766	0.7
18	9563043	C	T	18	9563045	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.972710711965371	0.804
18	9563044	T	A	18	9563046	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.00785745390433112	0.088
18	9563044	T	C	18	9563046	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.0069180409540431	0.056
18	9563044	T	G	18	9563046	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	0.0069180409540431	0.062
18	9563045	C	A	18	9563047	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1589-1G>T)	.	.	0.993733916693694	0.852
18	9563045	C	G	18	9563047	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1589-1G>C)	.	.	0.993733916693694	0.85
18	9563045	C	T	18	9563047	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1589-1G>A)	.	.	0.99322353305357	0.85
18	9563046	T	A	18	9563048	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1589-2A>T)	.	.	0.0396071572689364	0.218
18	9563046	T	C	18	9563048	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1589-2A>G)	.	.	0.0353323860210687	0.166
18	9563046	T	G	18	9563048	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000285124:exon13:c.1589-2A>C)	.	.	0.0353323860210687	0.166
18	9563047	C	A	18	9563049	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00445273769687348	0.112
18	9563047	C	G	18	9563049	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00445273769687348	0.096
18	9563047	C	T	18	9563049	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00829322666034312	0.11
18	9563048	C	A	18	9563050	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.923645538223766	0.658
18	9563048	C	G	18	9563050	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.876130190174501	0.71
18	9563048	C	T	18	9563050	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.923645538223766	0.68
18	9563049	A	C	18	9563051	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.64857229448119E-4	0.002
18	9563049	A	G	18	9563051	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.64857229448119E-4	0.002
18	9563049	A	T	18	9563051	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.64857229448119E-4	0.002
18	9563050	A	C	18	9563052	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00220285109689569	0.098
18	9563050	A	G	18	9563052	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00220285109689569	0.06
18	9563050	A	T	18	9563052	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00220285109689569	0.098
18	9563051	A	C	18	9563053	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.268466686057196	0.56
18	9563051	A	G	18	9563053	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.165912941932366	0.52
18	9563051	A	T	18	9563053	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.385620847847778	0.514
18	9563052	A	C	18	9563054	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.268466686057196	0.544
18	9563052	A	G	18	9563054	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.165912941932366	0.52
18	9563052	A	T	18	9563054	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.385620847847778	0.514
18	9563053	A	C	18	9563055	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.910900176831149	0.85
18	9563053	A	G	18	9563055	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.910900176831149	0.85
18	9563053	A	T	18	9563055	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.910900176831149	0.846
18	9563054	G	A	18	9563056	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.452573906408016	0.578
18	9563054	G	C	18	9563056	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.452573906408016	0.578
18	9563054	G	T	18	9563056	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.452573906408016	0.58
18	9563055	A	C	18	9563057	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.060123840629593	0.276
18	9563055	A	G	18	9563057	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0523669217765858	0.276
18	9563055	A	T	18	9563057	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.060123840629593	0.278
18	9563056	A	C	18	9563058	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.060123840629593	0.272
18	9563056	A	G	18	9563058	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.060123840629593	0.272
18	9563056	A	T	18	9563058	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.060123840629593	0.272
18	9563368	T	A	18	9563370	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.35115395350942E-5	0.02
18	9563368	T	C	18	9563370	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.7270050447055E-4	0.1
18	9563368	T	G	18	9563370	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.67042776752529E-4	0.11
18	9563369	T	A	18	9563371	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.80416408542653E-4	0.11
18	9563369	T	C	18	9563371	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.77414363703055E-5	0.02
18	9563369	T	G	18	9563371	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.42130133591415E-5	0.018
18	9563370	T	A	18	9563372	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.48777690037801E-5	0.012
18	9563370	T	C	18	9563372	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.00567285038958E-5	0.006
18	9563370	T	G	18	9563372	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.66229143723969E-4	0.076
18	9563371	G	A	18	9563373	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.35456315556415E-4	0.002
18	9563371	G	C	18	9563373	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.40257335724141E-5	0.032
18	9563371	G	T	18	9563373	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.77845684337E-5	0.042
18	9563372	T	A	18	9563374	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998142427039962	0.94
18	9563372	T	C	18	9563374	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998679422341842	0.984
18	9563372	T	G	18	9563374	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999380160355833	0.93
18	9563373	T	A	18	9563375	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999928944527325	0.874
18	9563373	T	C	18	9563375	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.95056866306745	0.822
18	9563373	T	G	18	9563375	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999923214146226	0.862
18	9563374	A	C	18	9563376	y	y	splicing	PPP4R1(NM_005134:exon13:c.1695+2T>G;NM_001042388:exon13:c.1746+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1695+2T>G;ENST00000400556:exon13:c.1746+2T>G;ENST00000285124:exon12:c.1588+2T>G)	.	.	0.999989917668626	0.928
18	9563374	A	G	18	9563376	y	y	splicing	PPP4R1(NM_005134:exon13:c.1695+2T>C;NM_001042388:exon13:c.1746+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1695+2T>C;ENST00000400556:exon13:c.1746+2T>C;ENST00000285124:exon12:c.1588+2T>C)	.	.	0.993179459523591	0.62
18	9563374	A	T	18	9563376	y	y	splicing	PPP4R1(NM_005134:exon13:c.1695+2T>A;NM_001042388:exon13:c.1746+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1695+2T>A;ENST00000400556:exon13:c.1746+2T>A;ENST00000285124:exon12:c.1588+2T>A)	.	.	0.999989917668626	0.928
18	9563375	C	A	18	9563377	y	y	splicing	PPP4R1(NM_005134:exon13:c.1695+1G>T;NM_001042388:exon13:c.1746+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1695+1G>T;ENST00000400556:exon13:c.1746+1G>T;ENST00000285124:exon12:c.1588+1G>T)	.	.	0.999981760802075	0.938
18	9563375	C	G	18	9563377	y	y	splicing	PPP4R1(NM_005134:exon13:c.1695+1G>C;NM_001042388:exon13:c.1746+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1695+1G>C;ENST00000400556:exon13:c.1746+1G>C;ENST00000285124:exon12:c.1588+1G>C)	.	.	0.999981760802075	0.938
18	9563375	C	T	18	9563377	y	y	splicing	PPP4R1(NM_005134:exon13:c.1695+1G>A;NM_001042388:exon13:c.1746+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1695+1G>A;ENST00000400556:exon13:c.1746+1G>A;ENST00000285124:exon12:c.1588+1G>A)	.	.	0.999981760802075	0.938
18	9563376	C	A	18	9563378	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.G1695T:p.E565D;PPP4R1:NM_001042388:exon12:c.G1746T:p.E582D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.G1746T:p.E582D;ENSG00000154845:ENST00000400555:exon12:c.G1695T:p.E565D;	0.999982277634694	0.91
18	9563376	C	G	18	9563378	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.G1695C:p.E565D;PPP4R1:NM_001042388:exon12:c.G1746C:p.E582D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.G1746C:p.E582D;ENSG00000154845:ENST00000400555:exon12:c.G1695C:p.E565D;	0.999981063380805	0.984
18	9563376	C	T	18	9563378	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon12:c.G1695A:p.E565E;PPP4R1:NM_001042388:exon12:c.G1746A:p.E582E;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.G1746A:p.E582E;ENSG00000154845:ENST00000400555:exon12:c.G1695A:p.E565E;	0.99999029781052	1.0
18	9563377	T	A	18	9563379	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.A1694T:p.E565V;PPP4R1:NM_001042388:exon12:c.A1745T:p.E582V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.A1745T:p.E582V;ENSG00000154845:ENST00000400555:exon12:c.A1694T:p.E565V;	0.999907656526717	0.978
18	9563377	T	C	18	9563379	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.A1694G:p.E565G;PPP4R1:NM_001042388:exon12:c.A1745G:p.E582G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.A1745G:p.E582G;ENSG00000154845:ENST00000400555:exon12:c.A1694G:p.E565G;	0.999855791529572	0.982
18	9563377	T	G	18	9563379	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.A1694C:p.E565A;PPP4R1:NM_001042388:exon12:c.A1745C:p.E582A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.A1745C:p.E582A;ENSG00000154845:ENST00000400555:exon12:c.A1694C:p.E565A;	0.998467075732623	0.938
18	9563378	C	A	18	9563380	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon12:c.G1693T:p.E565X;PPP4R1:NM_001042388:exon12:c.G1744T:p.E582X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon12:c.G1744T:p.E582X;ENSG00000154845:ENST00000400555:exon12:c.G1693T:p.E565X;	0.987508057870151	0.778
18	9563378	C	G	18	9563380	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.G1693C:p.E565Q;PPP4R1:NM_001042388:exon12:c.G1744C:p.E582Q;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.G1744C:p.E582Q;ENSG00000154845:ENST00000400555:exon12:c.G1693C:p.E565Q;	0.337277613307229	0.43
18	9563378	C	T	18	9563380	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.G1693A:p.E565K;PPP4R1:NM_001042388:exon12:c.G1744A:p.E582K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.G1744A:p.E582K;ENSG00000154845:ENST00000400555:exon12:c.G1693A:p.E565K;	0.917308411470355	0.694
18	9563547	T	A	18	9563549	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon12:c.A1524T:p.A508A;PPP4R1:NM_001042388:exon12:c.A1575T:p.A525A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.A1575T:p.A525A;ENSG00000154845:ENST00000400555:exon12:c.A1524T:p.A508A;	1.42918814110791E-5	0.0
18	9563547	T	C	18	9563549	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon12:c.A1524G:p.A508A;PPP4R1:NM_001042388:exon12:c.A1575G:p.A525A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.A1575G:p.A525A;ENSG00000154845:ENST00000400555:exon12:c.A1524G:p.A508A;	5.36054535043829E-5	0.014
18	9563547	T	G	18	9563549	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon12:c.A1524C:p.A508A;PPP4R1:NM_001042388:exon12:c.A1575C:p.A525A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.A1575C:p.A525A;ENSG00000154845:ENST00000400555:exon12:c.A1524C:p.A508A;	2.36418234836739E-5	0.0
18	9563548	G	A	18	9563550	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.C1523T:p.A508V;PPP4R1:NM_001042388:exon12:c.C1574T:p.A525V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.C1574T:p.A525V;ENSG00000154845:ENST00000400555:exon12:c.C1523T:p.A508V;	0.994685277440023	0.922
18	9563548	G	C	18	9563550	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.C1523G:p.A508G;PPP4R1:NM_001042388:exon12:c.C1574G:p.A525G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.C1574G:p.A525G;ENSG00000154845:ENST00000400555:exon12:c.C1523G:p.A508G;	0.974264185257628	0.728
18	9563548	G	T	18	9563550	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon12:c.C1523A:p.A508E;PPP4R1:NM_001042388:exon12:c.C1574A:p.A525E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon12:c.C1574A:p.A525E;ENSG00000154845:ENST00000400555:exon12:c.C1523A:p.A508E;	0.971265114401887	0.836
18	9563549	C	A	18	9563551	y	y	splicing	PPP4R1(NM_005134:exon13:c.1523-1G>T;NM_001042388:exon13:c.1574-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1523-1G>T;ENST00000400556:exon13:c.1574-1G>T;ENST00000285124:exon12:c.1416-1G>T)	.	.	0.999982737877662	0.932
18	9563549	C	G	18	9563551	y	y	splicing	PPP4R1(NM_005134:exon13:c.1523-1G>C;NM_001042388:exon13:c.1574-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1523-1G>C;ENST00000400556:exon13:c.1574-1G>C;ENST00000285124:exon12:c.1416-1G>C)	.	.	0.99995545544995	0.932
18	9563549	C	T	18	9563551	y	y	splicing	PPP4R1(NM_005134:exon13:c.1523-1G>A;NM_001042388:exon13:c.1574-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1523-1G>A;ENST00000400556:exon13:c.1574-1G>A;ENST00000285124:exon12:c.1416-1G>A)	.	.	0.999982737877662	0.938
18	9563550	T	A	18	9563552	y	y	splicing	PPP4R1(NM_005134:exon13:c.1523-2A>T;NM_001042388:exon13:c.1574-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1523-2A>T;ENST00000400556:exon13:c.1574-2A>T;ENST00000285124:exon12:c.1416-2A>T)	.	.	0.999946188727699	0.94
18	9563550	T	C	18	9563552	y	y	splicing	PPP4R1(NM_005134:exon13:c.1523-2A>G;NM_001042388:exon13:c.1574-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1523-2A>G;ENST00000400556:exon13:c.1574-2A>G;ENST00000285124:exon12:c.1416-2A>G)	.	.	0.999964896440643	0.938
18	9563550	T	G	18	9563552	y	y	splicing	PPP4R1(NM_005134:exon13:c.1523-2A>C;NM_001042388:exon13:c.1574-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon13:c.1523-2A>C;ENST00000400556:exon13:c.1574-2A>C;ENST00000285124:exon12:c.1416-2A>C)	.	.	0.999964896440643	0.938
18	9563551	A	C	18	9563553	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.925743181919412	0.672
18	9563551	A	G	18	9563553	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.22017972715794E-5	0.0
18	9563551	A	T	18	9563553	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0112518419978939	0.264
18	9563552	C	A	18	9563554	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.20914952679679E-5	0.0
18	9563552	C	G	18	9563554	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.8089624814846E-5	0.0
18	9563552	C	T	18	9563554	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.05935336843175E-5	0.0
18	9563553	A	C	18	9563555	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.410844703770568	0.258
18	9563553	A	G	18	9563555	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.55404561490921E-4	0.008
18	9563553	A	T	18	9563555	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996299611756261	0.816
18	9563554	G	A	18	9563556	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.68424895902181E-4	0.016
18	9563554	G	C	18	9563556	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00935120765590493	0.268
18	9563554	G	T	18	9563556	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00651056953433431	0.292
18	9563555	G	A	18	9563557	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.29850451561829E-5	0.006
18	9563555	G	C	18	9563557	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0108026692425	0.186
18	9563555	G	T	18	9563557	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0169352654150202	0.202
18	9563556	C	A	18	9563558	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.89363865322341E-5	0.002
18	9563556	C	G	18	9563558	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.28257806190475E-4	0.004
18	9563556	C	T	18	9563558	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.20605619972885E-4	0.002
18	9563557	A	C	18	9563559	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00808690178044978	0.268
18	9563557	A	G	18	9563559	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.92045127571841E-5	0.01
18	9563557	A	T	18	9563559	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999912728628078	0.888
18	9563558	A	C	18	9563560	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00919474159860324	0.188
18	9563558	A	G	18	9563560	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.00375457293285E-4	0.0
18	9563558	A	T	18	9563560	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0114091973990163	0.16
18	9563559	A	C	18	9563561	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.12355533985502	0.556
18	9563559	A	G	18	9563561	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.4203340904802E-4	0.026
18	9563559	A	T	18	9563561	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0905375675810041	0.512
18	9563560	A	C	18	9563562	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.997906154144877	0.966
18	9563560	A	G	18	9563562	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.09165225970755E-4	0.008
18	9563560	A	T	18	9563562	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0191541194976943	0.206
18	9570147	T	A	18	9570149	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.19223635671677E-4	0.0
18	9570147	T	C	18	9570149	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.53547770410612E-5	0.0
18	9570147	T	G	18	9570149	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.21331749923107E-5	0.0
18	9570148	T	A	18	9570150	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.87776092815945E-4	0.03
18	9570148	T	C	18	9570150	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.0691323319232E-4	0.004
18	9570148	T	G	18	9570150	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.95707075014634E-5	0.004
18	9570149	C	A	18	9570151	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.53477249960208E-5	0.0
18	9570149	C	G	18	9570151	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.24156284408182E-4	0.002
18	9570149	C	T	18	9570151	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.11437830087882E-4	0.0
18	9570150	C	A	18	9570152	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.994890939929844	0.65
18	9570150	C	G	18	9570152	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.994023547507614	0.62
18	9570150	C	T	18	9570152	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.907722016997553	0.614
18	9570151	A	C	18	9570153	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.70681805264389E-4	0.024
18	9570151	A	G	18	9570153	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.59940691253816E-4	0.002
18	9570151	A	T	18	9570153	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.57618283538771E-5	0.016
18	9570152	T	A	18	9570154	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998942715664644	0.934
18	9570152	T	C	18	9570154	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.993543544438053	0.824
18	9570152	T	G	18	9570154	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999509659038166	0.928
18	9570153	A	C	18	9570155	y	y	splicing	PPP4R1(NM_005134:exon12:c.1522+2T>G;NM_001042388:exon12:c.1573+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.1522+2T>G;ENST00000400556:exon12:c.1573+2T>G;ENST00000285124:exon11:c.1415+2T>G)	.	.	0.999988247793601	0.928
18	9570153	A	G	18	9570155	y	y	splicing	PPP4R1(NM_005134:exon12:c.1522+2T>C;NM_001042388:exon12:c.1573+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.1522+2T>C;ENST00000400556:exon12:c.1573+2T>C;ENST00000285124:exon11:c.1415+2T>C)	.	.	0.991245725732999	0.636
18	9570153	A	T	18	9570155	y	y	splicing	PPP4R1(NM_005134:exon12:c.1522+2T>A;NM_001042388:exon12:c.1573+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.1522+2T>A;ENST00000400556:exon12:c.1573+2T>A;ENST00000285124:exon11:c.1415+2T>A)	.	.	0.999988247793601	0.93
18	9570154	C	A	18	9570156	y	y	splicing	PPP4R1(NM_005134:exon12:c.1522+1G>T;NM_001042388:exon12:c.1573+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.1522+1G>T;ENST00000400556:exon12:c.1573+1G>T;ENST00000285124:exon11:c.1415+1G>T)	.	.	0.999989072007339	0.934
18	9570154	C	G	18	9570156	y	y	splicing	PPP4R1(NM_005134:exon12:c.1522+1G>C;NM_001042388:exon12:c.1573+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.1522+1G>C;ENST00000400556:exon12:c.1573+1G>C;ENST00000285124:exon11:c.1415+1G>C)	.	.	0.999989072007339	0.934
18	9570154	C	T	18	9570156	y	y	splicing	PPP4R1(NM_005134:exon12:c.1522+1G>A;NM_001042388:exon12:c.1573+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.1522+1G>A;ENST00000400556:exon12:c.1573+1G>A;ENST00000285124:exon11:c.1415+1G>A)	.	.	0.999989072007339	0.934
18	9570155	C	A	18	9570157	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.G1522T:p.A508S;PPP4R1:NM_001042388:exon11:c.G1573T:p.A525S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.G1573T:p.A525S;ENSG00000154845:ENST00000400555:exon11:c.G1522T:p.A508S;	0.999970233178701	0.962
18	9570155	C	G	18	9570157	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.G1522C:p.A508P;PPP4R1:NM_001042388:exon11:c.G1573C:p.A525P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.G1573C:p.A525P;ENSG00000154845:ENST00000400555:exon11:c.G1522C:p.A508P;	0.999996025866693	0.998
18	9570155	C	T	18	9570157	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.G1522A:p.A508T;PPP4R1:NM_001042388:exon11:c.G1573A:p.A525T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.G1573A:p.A525T;ENSG00000154845:ENST00000400555:exon11:c.G1522A:p.A508T;	0.999970230545903	0.996
18	9570156	T	A	18	9570158	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.A1521T:p.K507N;PPP4R1:NM_001042388:exon11:c.A1572T:p.K524N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1572T:p.K524N;ENSG00000154845:ENST00000400555:exon11:c.A1521T:p.K507N;	0.999834056903871	0.988
18	9570156	T	C	18	9570158	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon11:c.A1521G:p.K507K;PPP4R1:NM_001042388:exon11:c.A1572G:p.K524K;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1572G:p.K524K;ENSG00000154845:ENST00000400555:exon11:c.A1521G:p.K507K;	0.999144178171488	0.982
18	9570156	T	G	18	9570158	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.A1521C:p.K507N;PPP4R1:NM_001042388:exon11:c.A1572C:p.K524N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1572C:p.K524N;ENSG00000154845:ENST00000400555:exon11:c.A1521C:p.K507N;	0.999549178216404	0.966
18	9570157	T	A	18	9570159	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.A1520T:p.K507I;PPP4R1:NM_001042388:exon11:c.A1571T:p.K524I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1571T:p.K524I;ENSG00000154845:ENST00000400555:exon11:c.A1520T:p.K507I;	0.357792961560531	0.458
18	9570157	T	C	18	9570159	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.A1520G:p.K507R;PPP4R1:NM_001042388:exon11:c.A1571G:p.K524R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1571G:p.K524R;ENSG00000154845:ENST00000400555:exon11:c.A1520G:p.K507R;	0.00121193644309723	0.068
18	9570157	T	G	18	9570159	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.A1520C:p.K507T;PPP4R1:NM_001042388:exon11:c.A1571C:p.K524T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1571C:p.K524T;ENSG00000154845:ENST00000400555:exon11:c.A1520C:p.K507T;	0.0014407325271794	0.038
18	9570680	T	A	18	9570682	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.A997T:p.T333S;PPP4R1:NM_001042388:exon11:c.A1048T:p.T350S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1048T:p.T350S;ENSG00000154845:ENST00000400555:exon11:c.A997T:p.T333S;	1.37662724619757E-4	.
18	9570680	T	C	18	9570682	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.A997G:p.T333A;PPP4R1:NM_001042388:exon11:c.A1048G:p.T350A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1048G:p.T350A;ENSG00000154845:ENST00000400555:exon11:c.A997G:p.T333A;	1.59243286282443E-4	.
18	9570680	T	G	18	9570682	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.A997C:p.T333P;PPP4R1:NM_001042388:exon11:c.A1048C:p.T350P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.A1048C:p.T350P;ENSG00000154845:ENST00000400555:exon11:c.A997C:p.T333P;	0.00102190332866755	.
18	9570681	C	A	18	9570683	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.G996T:p.R332S;PPP4R1:NM_001042388:exon11:c.G1047T:p.R349S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.G1047T:p.R349S;ENSG00000154845:ENST00000400555:exon11:c.G996T:p.R332S;	0.750862596241685	.
18	9570681	C	G	18	9570683	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon11:c.G996C:p.R332S;PPP4R1:NM_001042388:exon11:c.G1047C:p.R349S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.G1047C:p.R349S;ENSG00000154845:ENST00000400555:exon11:c.G996C:p.R332S;	0.0637042835563704	.
18	9570681	C	T	18	9570683	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon11:c.G996A:p.R332R;PPP4R1:NM_001042388:exon11:c.G1047A:p.R349R;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon11:c.G1047A:p.R349R;ENSG00000154845:ENST00000400555:exon11:c.G996A:p.R332R;	0.217059908800897	.
18	9570682	C	A	18	9570684	y	y	splicing	PPP4R1(NM_005134:exon12:c.996-1G>T;NM_001042388:exon12:c.1047-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.996-1G>T;ENST00000400556:exon12:c.1047-1G>T;ENST00000285124:exon11:c.889-1G>T)	.	.	0.999977908016736	.
18	9570682	C	G	18	9570684	y	y	splicing	PPP4R1(NM_005134:exon12:c.996-1G>C;NM_001042388:exon12:c.1047-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.996-1G>C;ENST00000400556:exon12:c.1047-1G>C;ENST00000285124:exon11:c.889-1G>C)	.	.	0.999977908016736	.
18	9570682	C	T	18	9570684	y	y	splicing	PPP4R1(NM_005134:exon12:c.996-1G>A;NM_001042388:exon12:c.1047-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.996-1G>A;ENST00000400556:exon12:c.1047-1G>A;ENST00000285124:exon11:c.889-1G>A)	.	.	0.999977908016736	.
18	9570683	T	A	18	9570685	y	y	splicing	PPP4R1(NM_005134:exon12:c.996-2A>T;NM_001042388:exon12:c.1047-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.996-2A>T;ENST00000400556:exon12:c.1047-2A>T;ENST00000285124:exon11:c.889-2A>T)	.	.	0.999994037944208	.
18	9570683	T	C	18	9570685	y	y	splicing	PPP4R1(NM_005134:exon12:c.996-2A>G;NM_001042388:exon12:c.1047-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.996-2A>G;ENST00000400556:exon12:c.1047-2A>G;ENST00000285124:exon11:c.889-2A>G)	.	.	0.99998627987333	.
18	9570683	T	G	18	9570685	y	y	splicing	PPP4R1(NM_005134:exon12:c.996-2A>C;NM_001042388:exon12:c.1047-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon12:c.996-2A>C;ENST00000400556:exon12:c.1047-2A>C;ENST00000285124:exon11:c.889-2A>C)	.	.	0.99998627987333	.
18	9570684	T	A	18	9570686	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00510340524500224	.
18	9570684	T	C	18	9570686	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0729406002845304	.
18	9570684	T	G	18	9570686	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.29133865619931E-4	.
18	9570685	T	A	18	9570687	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00214579657150789	.
18	9570685	T	C	18	9570687	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996400068470171	.
18	9570685	T	G	18	9570687	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.67785065492853E-4	.
18	9570686	T	A	18	9570688	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.89437135262087E-4	.
18	9570686	T	C	18	9570688	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.14075518138146E-4	.
18	9570686	T	G	18	9570688	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.11412183582328E-4	.
18	9570687	A	C	18	9570689	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999065571595462	.
18	9570687	A	G	18	9570689	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.12438775696657E-4	.
18	9570687	A	T	18	9570689	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.112188341546883	.
18	9570688	T	A	18	9570690	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.72137511723825E-4	.
18	9570688	T	C	18	9570690	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996081326439459	.
18	9570688	T	G	18	9570690	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.36135554227329E-4	.
18	9570689	T	A	18	9570691	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0012039792427734	.
18	9570689	T	C	18	9570691	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00637634549017703	.
18	9570689	T	G	18	9570691	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00148297093662679	.
18	9570690	G	A	18	9570692	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0518990183567191	.
18	9570690	G	C	18	9570692	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999888156622157	.
18	9570690	G	T	18	9570692	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.656777652949181	.
18	9570691	T	A	18	9570693	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.43200471706343E-4	.
18	9570691	T	C	18	9570693	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.986852078756057	.
18	9570691	T	G	18	9570693	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.73495644393243E-4	.
18	9570692	T	A	18	9570694	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00161505472440347	.
18	9570692	T	C	18	9570694	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.991561532734207	.
18	9570692	T	G	18	9570694	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.05548182150653E-4	.
18	9570693	T	A	18	9570695	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.01474722417531E-4	.
18	9570693	T	C	18	9570695	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.986904571504853	.
18	9570693	T	G	18	9570695	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.74237858818235E-4	.
18	9577054	A	C	18	9577056	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.35564745443105E-4	0.004
18	9577054	A	G	18	9577056	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.45278954900705E-5	0.0
18	9577054	A	T	18	9577056	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.85022707370831E-4	0.0
18	9577055	A	C	18	9577057	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.13284737117314E-4	0.002
18	9577055	A	G	18	9577057	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.13284737117314E-4	0.002
18	9577055	A	T	18	9577057	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.85460333471099E-4	0.008
18	9577056	T	A	18	9577058	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.82559582868685E-4	0.04
18	9577056	T	C	18	9577058	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0015774855119367	0.098
18	9577056	T	G	18	9577058	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00367598874585258	0.132
18	9577057	T	A	18	9577059	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.85572654215103E-5	0.054
18	9577057	T	C	18	9577059	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.7346314225856E-5	0.002
18	9577057	T	G	18	9577059	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.14879408322003E-5	0.03
18	9577058	A	C	18	9577060	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.19014894953816E-5	0.03
18	9577058	A	G	18	9577060	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.58143577857853E-4	0.03
18	9577058	A	T	18	9577060	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.23264310177486E-5	0.028
18	9577059	T	A	18	9577061	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999936131136285	0.95
18	9577059	T	C	18	9577061	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999579625293169	0.924
18	9577059	T	G	18	9577061	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999878397758089	0.924
18	9577060	A	C	18	9577062	y	y	splicing	PPP4R1(NM_005134:exon11:c.995+2T>G;NM_001042388:exon11:c.1046+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.995+2T>G;ENST00000400556:exon11:c.1046+2T>G;ENST00000285124:exon10:c.888+2T>G)	.	.	0.999986741007567	0.946
18	9577060	A	G	18	9577062	y	y	splicing	PPP4R1(NM_005134:exon11:c.995+2T>C;NM_001042388:exon11:c.1046+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.995+2T>C;ENST00000400556:exon11:c.1046+2T>C;ENST00000285124:exon10:c.888+2T>C)	.	.	0.999829928659942	0.924
18	9577060	A	T	18	9577062	y	y	splicing	PPP4R1(NM_005134:exon11:c.995+2T>A;NM_001042388:exon11:c.1046+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.995+2T>A;ENST00000400556:exon11:c.1046+2T>A;ENST00000285124:exon10:c.888+2T>A)	.	.	0.999986741007567	0.944
18	9577061	C	A	18	9577063	y	y	splicing	PPP4R1(NM_005134:exon11:c.995+1G>T;NM_001042388:exon11:c.1046+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.995+1G>T;ENST00000400556:exon11:c.1046+1G>T;ENST00000285124:exon10:c.888+1G>T)	.	.	0.999983677848485	0.942
18	9577061	C	G	18	9577063	y	y	splicing	PPP4R1(NM_005134:exon11:c.995+1G>C;NM_001042388:exon11:c.1046+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.995+1G>C;ENST00000400556:exon11:c.1046+1G>C;ENST00000285124:exon10:c.888+1G>C)	.	.	0.999983677848485	0.942
18	9577061	C	T	18	9577063	y	y	splicing	PPP4R1(NM_005134:exon11:c.995+1G>A;NM_001042388:exon11:c.1046+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.995+1G>A;ENST00000400556:exon11:c.1046+1G>A;ENST00000285124:exon10:c.888+1G>A)	.	.	0.999983677848485	0.942
18	9577062	C	A	18	9577064	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.G995T:p.R332M;PPP4R1:NM_001042388:exon10:c.G1046T:p.R349M;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.G1046T:p.R349M;ENSG00000154845:ENST00000400555:exon10:c.G995T:p.R332M;	0.999990687524216	1.0
18	9577062	C	G	18	9577064	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.G995C:p.R332T;PPP4R1:NM_001042388:exon10:c.G1046C:p.R349T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.G1046C:p.R349T;ENSG00000154845:ENST00000400555:exon10:c.G995C:p.R332T;	0.999992555229387	0.994
18	9577062	C	T	18	9577064	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.G995A:p.R332K;PPP4R1:NM_001042388:exon10:c.G1046A:p.R349K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.G1046A:p.R349K;ENSG00000154845:ENST00000400555:exon10:c.G995A:p.R332K;	0.99998984297341	0.998
18	9577063	T	A	18	9577065	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.A994T:p.R332W;PPP4R1:NM_001042388:exon10:c.A1045T:p.R349W;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.A1045T:p.R349W;ENSG00000154845:ENST00000400555:exon10:c.A994T:p.R332W;	0.999961688356013	1.0
18	9577063	T	C	18	9577065	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.A994G:p.R332G;PPP4R1:NM_001042388:exon10:c.A1045G:p.R349G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.A1045G:p.R349G;ENSG00000154845:ENST00000400555:exon10:c.A994G:p.R332G;	0.999868449480926	1.0
18	9577063	T	G	18	9577065	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon10:c.A994C:p.R332R;PPP4R1:NM_001042388:exon10:c.A1045C:p.R349R;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.A1045C:p.R349R;ENSG00000154845:ENST00000400555:exon10:c.A994C:p.R332R;	0.999086467181556	0.992
18	9577064	A	C	18	9577066	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.T993G:p.N331K;PPP4R1:NM_001042388:exon10:c.T1044G:p.N348K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.T1044G:p.N348K;ENSG00000154845:ENST00000400555:exon10:c.T993G:p.N331K;	2.62241397693555E-4	0.092
18	9577064	A	G	18	9577066	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon10:c.T993C:p.N331N;PPP4R1:NM_001042388:exon10:c.T1044C:p.N348N;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.T1044C:p.N348N;ENSG00000154845:ENST00000400555:exon10:c.T993C:p.N331N;	2.10752742004957E-4	0.028
18	9577064	A	T	18	9577066	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.T993A:p.N331K;PPP4R1:NM_001042388:exon10:c.T1044A:p.N348K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.T1044A:p.N348K;ENSG00000154845:ENST00000400555:exon10:c.T993A:p.N331K;	2.10752742004957E-4	0.03
18	9577188	A	C	18	9577190	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.T869G:p.V290G;PPP4R1:NM_001042388:exon10:c.T920G:p.V307G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.T920G:p.V307G;ENSG00000154845:ENST00000400555:exon10:c.T869G:p.V290G;	0.454340709917171	0.642
18	9577188	A	G	18	9577190	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.T869C:p.V290A;PPP4R1:NM_001042388:exon10:c.T920C:p.V307A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.T920C:p.V307A;ENSG00000154845:ENST00000400555:exon10:c.T869C:p.V290A;	0.468852092229286	0.624
18	9577188	A	T	18	9577190	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.T869A:p.V290D;PPP4R1:NM_001042388:exon10:c.T920A:p.V307D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.T920A:p.V307D;ENSG00000154845:ENST00000400555:exon10:c.T869A:p.V290D;	0.483273714053563	0.648
18	9577189	C	A	18	9577191	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.G868T:p.V290F;PPP4R1:NM_001042388:exon10:c.G919T:p.V307F;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.G919T:p.V307F;ENSG00000154845:ENST00000400555:exon10:c.G868T:p.V290F;	0.999828808076065	0.962
18	9577189	C	G	18	9577191	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.G868C:p.V290L;PPP4R1:NM_001042388:exon10:c.G919C:p.V307L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.G919C:p.V307L;ENSG00000154845:ENST00000400555:exon10:c.G868C:p.V290L;	0.999731908290587	0.92
18	9577189	C	T	18	9577191	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon10:c.G868A:p.V290I;PPP4R1:NM_001042388:exon10:c.G919A:p.V307I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon10:c.G919A:p.V307I;ENSG00000154845:ENST00000400555:exon10:c.G868A:p.V290I;	0.998741373554989	0.902
18	9577190	C	A	18	9577192	y	y	splicing	PPP4R1(NM_005134:exon11:c.868-1G>T;NM_001042388:exon11:c.919-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.868-1G>T;ENST00000400556:exon11:c.919-1G>T;ENST00000285124:exon10:c.761-1G>T)	.	.	0.999990361384395	0.938
18	9577190	C	G	18	9577192	y	y	splicing	PPP4R1(NM_005134:exon11:c.868-1G>C;NM_001042388:exon11:c.919-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.868-1G>C;ENST00000400556:exon11:c.919-1G>C;ENST00000285124:exon10:c.761-1G>C)	.	.	0.999990361384395	0.938
18	9577190	C	T	18	9577192	y	y	splicing	PPP4R1(NM_005134:exon11:c.868-1G>A;NM_001042388:exon11:c.919-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.868-1G>A;ENST00000400556:exon11:c.919-1G>A;ENST00000285124:exon10:c.761-1G>A)	.	.	0.999990361384395	0.938
18	9577191	T	A	18	9577193	y	y	splicing	PPP4R1(NM_005134:exon11:c.868-2A>T;NM_001042388:exon11:c.919-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.868-2A>T;ENST00000400556:exon11:c.919-2A>T;ENST00000285124:exon10:c.761-2A>T)	.	.	0.999988247793601	0.93
18	9577191	T	C	18	9577193	y	y	splicing	PPP4R1(NM_005134:exon11:c.868-2A>G;NM_001042388:exon11:c.919-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.868-2A>G;ENST00000400556:exon11:c.919-2A>G;ENST00000285124:exon10:c.761-2A>G)	.	.	0.999988247793601	0.93
18	9577191	T	G	18	9577193	y	y	splicing	PPP4R1(NM_005134:exon11:c.868-2A>C;NM_001042388:exon11:c.919-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon11:c.868-2A>C;ENST00000400556:exon11:c.919-2A>C;ENST00000285124:exon10:c.761-2A>C)	.	.	0.999988247793601	0.93
18	9577192	A	C	18	9577194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.451094623006605	0.62
18	9577192	A	G	18	9577194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.90023640201219E-5	0.028
18	9577192	A	T	18	9577194	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00592348636061435	0.284
18	9577193	G	A	18	9577195	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.5157225294273E-5	0.002
18	9577193	G	C	18	9577195	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.20476841209745E-4	0.008
18	9577193	G	T	18	9577195	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.38132622622058E-5	0.002
18	9577194	G	A	18	9577196	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.06608206973483E-5	0.0
18	9577194	G	C	18	9577196	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.00611165610028E-4	0.042
18	9577194	G	T	18	9577196	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.32925129795143E-4	0.034
18	9577195	A	C	18	9577197	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00738885027128753	0.064
18	9577195	A	G	18	9577197	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.33407849680174E-4	0.01
18	9577195	A	T	18	9577197	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00194264451650292	0.058
18	9577196	A	C	18	9577198	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.97560215489398E-4	0.064
18	9577196	A	G	18	9577198	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.6653767171363E-4	0.002
18	9577196	A	T	18	9577198	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00110783758733172	0.072
18	9577197	G	A	18	9577199	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.77048111894039E-5	0.0
18	9577197	G	C	18	9577199	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.33043659284481E-4	0.024
18	9577197	G	T	18	9577199	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.37679222772028E-4	0.034
18	9577198	A	C	18	9577200	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99943775365532	0.894
18	9577198	A	G	18	9577200	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.32912659601791E-4	0.012
18	9577198	A	T	18	9577200	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.41262862220555E-4	0.1
18	9577199	T	A	18	9577201	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.52250426960717E-6	0.0
18	9577199	T	C	18	9577201	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.36463873124964E-5	0.0
18	9577199	T	G	18	9577201	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.09402054515615E-5	0.002
18	9577200	A	C	18	9577202	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.65589133810272E-4	0.074
18	9577200	A	G	18	9577202	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.04357754903789E-4	0.008
18	9577200	A	T	18	9577202	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.85690828110568E-4	0.104
18	9577201	A	C	18	9577203	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.35657929536091E-4	0.144
18	9577201	A	G	18	9577203	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.84252293892557E-5	0.006
18	9577201	A	T	18	9577203	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.38783247534216E-4	0.094
18	9583107	A	C	18	9583109	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.76230716164931E-4	0.058
18	9583107	A	G	18	9583109	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00161775316744999	0.032
18	9583107	A	T	18	9583109	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.58858148024764E-4	0.054
18	9583108	A	C	18	9583110	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.34975120005615E-5	0.002
18	9583108	A	G	18	9583110	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.34619532534421E-5	0.016
18	9583108	A	T	18	9583110	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.49515927712277E-5	0.038
18	9583109	C	A	18	9583111	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.05612906766044E-5	0.018
18	9583109	C	G	18	9583111	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.61606331235287E-4	0.034
18	9583109	C	T	18	9583111	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.27947289733414E-5	0.0
18	9583110	C	A	18	9583112	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999975696442192	0.92
18	9583110	C	G	18	9583112	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999982564438542	0.97
18	9583110	C	T	18	9583112	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999982564438542	0.946
18	9583111	C	A	18	9583113	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.07794837367977E-4	0.128
18	9583111	C	G	18	9583113	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.28844554396898E-4	0.29
18	9583111	C	T	18	9583113	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.18477392021979E-5	0.054
18	9583112	T	A	18	9583114	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999815331282284	0.946
18	9583112	T	C	18	9583114	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998244185771819	0.81
18	9583112	T	G	18	9583114	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999935036989902	0.962
18	9583113	A	C	18	9583115	y	y	splicing	PPP4R1(NM_005134:exon10:c.867+2T>G;NM_001042388:exon10:c.918+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.867+2T>G;ENST00000400556:exon10:c.918+2T>G;ENST00000285124:exon9:c.760+2T>G)	.	.	0.999979394981131	0.912
18	9583113	A	G	18	9583115	y	y	splicing	PPP4R1(NM_005134:exon10:c.867+2T>C;NM_001042388:exon10:c.918+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.867+2T>C;ENST00000400556:exon10:c.918+2T>C;ENST00000285124:exon9:c.760+2T>C)	.	.	0.999881591701446	0.848
18	9583113	A	T	18	9583115	y	y	splicing	PPP4R1(NM_005134:exon10:c.867+2T>A;NM_001042388:exon10:c.918+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.867+2T>A;ENST00000400556:exon10:c.918+2T>A;ENST00000285124:exon9:c.760+2T>A)	.	.	0.999979394981131	0.912
18	9583114	C	A	18	9583116	y	y	splicing	PPP4R1(NM_005134:exon10:c.867+1G>T;NM_001042388:exon10:c.918+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.867+1G>T;ENST00000400556:exon10:c.918+1G>T;ENST00000285124:exon9:c.760+1G>T)	.	.	0.999982627682474	0.908
18	9583114	C	G	18	9583116	y	y	splicing	PPP4R1(NM_005134:exon10:c.867+1G>C;NM_001042388:exon10:c.918+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.867+1G>C;ENST00000400556:exon10:c.918+1G>C;ENST00000285124:exon9:c.760+1G>C)	.	.	0.999982627682474	0.906
18	9583114	C	T	18	9583116	y	y	splicing	PPP4R1(NM_005134:exon10:c.867+1G>A;NM_001042388:exon10:c.918+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.867+1G>A;ENST00000400556:exon10:c.918+1G>A;ENST00000285124:exon9:c.760+1G>A)	.	.	0.999982627682474	0.908
18	9583115	C	A	18	9583117	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.G867T:p.W289C;PPP4R1:NM_001042388:exon9:c.G918T:p.W306C;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.G918T:p.W306C;ENSG00000154845:ENST00000400555:exon9:c.G867T:p.W289C;	0.999989327467204	0.992
18	9583115	C	G	18	9583117	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.G867C:p.W289C;PPP4R1:NM_001042388:exon9:c.G918C:p.W306C;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.G918C:p.W306C;ENSG00000154845:ENST00000400555:exon9:c.G867C:p.W289C;	0.999994676074884	1.0
18	9583115	C	T	18	9583117	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon9:c.G867A:p.W289X;PPP4R1:NM_001042388:exon9:c.G918A:p.W306X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon9:c.G918A:p.W306X;ENSG00000154845:ENST00000400555:exon9:c.G867A:p.W289X;	0.999996428307718	0.944
18	9583116	C	A	18	9583118	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.G866T:p.W289L;PPP4R1:NM_001042388:exon9:c.G917T:p.W306L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.G917T:p.W306L;ENSG00000154845:ENST00000400555:exon9:c.G866T:p.W289L;	0.986129258445841	0.828
18	9583116	C	G	18	9583118	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.G866C:p.W289S;PPP4R1:NM_001042388:exon9:c.G917C:p.W306S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.G917C:p.W306S;ENSG00000154845:ENST00000400555:exon9:c.G866C:p.W289S;	0.992197406267504	0.894
18	9583116	C	T	18	9583118	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon9:c.G866A:p.W289X;PPP4R1:NM_001042388:exon9:c.G917A:p.W306X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon9:c.G917A:p.W306X;ENSG00000154845:ENST00000400555:exon9:c.G866A:p.W289X;	0.979057912346748	0.724
18	9583117	A	C	18	9583119	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.T865G:p.W289G;PPP4R1:NM_001042388:exon9:c.T916G:p.W306G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.T916G:p.W306G;ENSG00000154845:ENST00000400555:exon9:c.T865G:p.W289G;	0.818241429204232	0.742
18	9583117	A	G	18	9583119	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.T865C:p.W289R;PPP4R1:NM_001042388:exon9:c.T916C:p.W306R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.T916C:p.W306R;ENSG00000154845:ENST00000400555:exon9:c.T865C:p.W289R;	0.803780407751133	0.662
18	9583117	A	T	18	9583119	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.T865A:p.W289R;PPP4R1:NM_001042388:exon9:c.T916A:p.W306R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.T916A:p.W306R;ENSG00000154845:ENST00000400555:exon9:c.T865A:p.W289R;	0.769394461108971	0.696
18	9583272	A	C	18	9583274	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.T710G:p.L237R;PPP4R1:NM_001042388:exon9:c.T761G:p.L254R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.T761G:p.L254R;ENSG00000154845:ENST00000400555:exon9:c.T710G:p.L237R;	0.869724648509895	0.58
18	9583272	A	G	18	9583274	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.T710C:p.L237P;PPP4R1:NM_001042388:exon9:c.T761C:p.L254P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.T761C:p.L254P;ENSG00000154845:ENST00000400555:exon9:c.T710C:p.L237P;	0.758873807750702	0.566
18	9583272	A	T	18	9583274	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.T710A:p.L237Q;PPP4R1:NM_001042388:exon9:c.T761A:p.L254Q;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.T761A:p.L254Q;ENSG00000154845:ENST00000400555:exon9:c.T710A:p.L237Q;	0.820394531772713	0.602
18	9583273	G	A	18	9583275	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon9:c.C709T:p.L237L;PPP4R1:NM_001042388:exon9:c.C760T:p.L254L;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.C760T:p.L254L;ENSG00000154845:ENST00000400555:exon9:c.C709T:p.L237L;	0.0375859577513518	0.364
18	9583273	G	C	18	9583275	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.C709G:p.L237V;PPP4R1:NM_001042388:exon9:c.C760G:p.L254V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.C760G:p.L254V;ENSG00000154845:ENST00000400555:exon9:c.C709G:p.L237V;	0.00342058187012619	0.084
18	9583273	G	T	18	9583275	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon9:c.C709A:p.L237M;PPP4R1:NM_001042388:exon9:c.C760A:p.L254M;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon9:c.C760A:p.L254M;ENSG00000154845:ENST00000400555:exon9:c.C709A:p.L237M;	0.0265650489099373	0.278
18	9583274	C	A	18	9583276	y	y	splicing	PPP4R1(NM_005134:exon10:c.709-1G>T;NM_001042388:exon10:c.760-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.709-1G>T;ENST00000400556:exon10:c.760-1G>T;ENST00000285124:exon9:c.602-1G>T)	.	.	0.999989072007339	0.934
18	9583274	C	G	18	9583276	y	y	splicing	PPP4R1(NM_005134:exon10:c.709-1G>C;NM_001042388:exon10:c.760-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.709-1G>C;ENST00000400556:exon10:c.760-1G>C;ENST00000285124:exon9:c.602-1G>C)	.	.	0.999989072007339	0.934
18	9583274	C	T	18	9583276	y	y	splicing	PPP4R1(NM_005134:exon10:c.709-1G>A;NM_001042388:exon10:c.760-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.709-1G>A;ENST00000400556:exon10:c.760-1G>A;ENST00000285124:exon9:c.602-1G>A)	.	.	0.999989072007339	0.934
18	9583275	T	A	18	9583277	y	y	splicing	PPP4R1(NM_005134:exon10:c.709-2A>T;NM_001042388:exon10:c.760-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.709-2A>T;ENST00000400556:exon10:c.760-2A>T;ENST00000285124:exon9:c.602-2A>T)	.	.	0.999988247793601	0.928
18	9583275	T	C	18	9583277	y	y	splicing	PPP4R1(NM_005134:exon10:c.709-2A>G;NM_001042388:exon10:c.760-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.709-2A>G;ENST00000400556:exon10:c.760-2A>G;ENST00000285124:exon9:c.602-2A>G)	.	.	0.999988247793601	0.928
18	9583275	T	G	18	9583277	y	y	splicing	PPP4R1(NM_005134:exon10:c.709-2A>C;NM_001042388:exon10:c.760-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon10:c.709-2A>C;ENST00000400556:exon10:c.760-2A>C;ENST00000285124:exon9:c.602-2A>C)	.	.	0.999988247793601	0.928
18	9583276	A	C	18	9583278	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.98736857828067	0.636
18	9583276	A	G	18	9583278	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.71060911726308E-5	0.014
18	9583276	A	T	18	9583278	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00495123932974468	0.33
18	9583277	T	A	18	9583279	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.34770829217413E-4	0.002
18	9583277	T	C	18	9583279	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.84413281774174E-4	0.008
18	9583277	T	G	18	9583279	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.59639863749743E-5	0.002
18	9583278	G	A	18	9583280	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.48499498734568E-5	0.0
18	9583278	G	C	18	9583280	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999560988301722	0.982
18	9583278	G	T	18	9583280	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.5641025942426E-4	0.104
18	9583279	T	A	18	9583281	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.16567641461604E-5	0.0
18	9583279	T	C	18	9583281	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.09482499173927E-5	0.0
18	9583279	T	G	18	9583281	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.33352571107819E-5	0.002
18	9583280	G	A	18	9583282	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.28854505554564E-5	0.0
18	9583280	G	C	18	9583282	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.64167748716165E-4	0.012
18	9583280	G	T	18	9583282	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.80189720983791E-4	0.046
18	9583281	A	C	18	9583283	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00126628064747713	0.078
18	9583281	A	G	18	9583283	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.38805489351844E-4	0.01
18	9583281	A	T	18	9583283	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00101566021735137	0.064
18	9583282	A	C	18	9583284	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.28308382793337E-4	0.062
18	9583282	A	G	18	9583284	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.97897100792681E-5	0.002
18	9583282	A	T	18	9583284	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0018091230113719	0.086
18	9583283	A	C	18	9583285	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00201164246493869	0.148
18	9583283	A	G	18	9583285	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.25272172825486E-4	0.016
18	9583283	A	T	18	9583285	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00177228153116918	0.126
18	9583284	A	C	18	9583286	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.04915193075584E-4	0.202
18	9583284	A	G	18	9583286	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.20743383455311E-4	0.088
18	9583284	A	T	18	9583286	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00559156009716623	0.186
18	9583285	G	A	18	9583287	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.60064043708217E-5	0.0
18	9583285	G	C	18	9583287	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00121545340194885	0.052
18	9583285	G	T	18	9583287	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00284062845577444	0.044
18	9584505	A	C	18	9584507	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.38652481526464E-4	0.0
18	9584505	A	G	18	9584507	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.38652481526464E-4	0.0
18	9584505	A	T	18	9584507	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.58610291944236E-4	0.002
18	9584506	T	A	18	9584508	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.39980422642338E-4	0.004
18	9584506	T	C	18	9584508	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.38652481526464E-4	0.004
18	9584506	T	G	18	9584508	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.38652481526464E-4	0.004
18	9584507	A	C	18	9584509	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.13945961658336E-4	0.028
18	9584507	A	G	18	9584509	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00277059960139479	0.05
18	9584507	A	T	18	9584509	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00110517462420256	0.044
18	9584508	C	A	18	9584510	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999545891130051	0.854
18	9584508	C	G	18	9584510	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998125674720804	0.906
18	9584508	C	T	18	9584510	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998116003993213	0.902
18	9584509	T	A	18	9584511	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.388311289876893	0.344
18	9584509	T	C	18	9584511	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.67089243182678	0.432
18	9584509	T	G	18	9584511	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.121368717241717	0.31
18	9584510	T	A	18	9584512	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.993897627844553	0.834
18	9584510	T	C	18	9584512	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.281114908244994	0.26
18	9584510	T	G	18	9584512	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.997983589298043	0.882
18	9584511	A	C	18	9584513	y	y	splicing	PPP4R1(NM_005134:exon9:c.708+2T>G;NM_001042388:exon9:c.759+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.708+2T>G;ENST00000400556:exon9:c.759+2T>G;ENST00000285124:exon8:c.601+2T>G)	.	.	0.999988247793601	0.928
18	9584511	A	G	18	9584513	y	y	splicing	PPP4R1(NM_005134:exon9:c.708+2T>C;NM_001042388:exon9:c.759+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.708+2T>C;ENST00000400556:exon9:c.759+2T>C;ENST00000285124:exon8:c.601+2T>C)	.	.	0.992054276455321	0.624
18	9584511	A	T	18	9584513	y	y	splicing	PPP4R1(NM_005134:exon9:c.708+2T>A;NM_001042388:exon9:c.759+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.708+2T>A;ENST00000400556:exon9:c.759+2T>A;ENST00000285124:exon8:c.601+2T>A)	.	.	0.999988247793601	0.928
18	9584512	C	A	18	9584514	y	y	splicing	PPP4R1(NM_005134:exon9:c.708+1G>T;NM_001042388:exon9:c.759+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.708+1G>T;ENST00000400556:exon9:c.759+1G>T;ENST00000285124:exon8:c.601+1G>T)	.	.	0.999986675681007	0.934
18	9584512	C	G	18	9584514	y	y	splicing	PPP4R1(NM_005134:exon9:c.708+1G>C;NM_001042388:exon9:c.759+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.708+1G>C;ENST00000400556:exon9:c.759+1G>C;ENST00000285124:exon8:c.601+1G>C)	.	.	0.999986675681007	0.934
18	9584512	C	T	18	9584514	y	y	splicing	PPP4R1(NM_005134:exon9:c.708+1G>A;NM_001042388:exon9:c.759+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.708+1G>A;ENST00000400556:exon9:c.759+1G>A;ENST00000285124:exon8:c.601+1G>A)	.	.	0.999986675681007	0.934
18	9584513	C	A	18	9584515	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.G708T:p.L236F;PPP4R1:NM_001042388:exon8:c.G759T:p.L253F;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.G759T:p.L253F;ENSG00000154845:ENST00000400555:exon8:c.G708T:p.L236F;	0.999940484724669	0.804
18	9584513	C	G	18	9584515	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.G708C:p.L236F;PPP4R1:NM_001042388:exon8:c.G759C:p.L253F;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.G759C:p.L253F;ENSG00000154845:ENST00000400555:exon8:c.G708C:p.L236F;	0.999945983176118	0.902
18	9584513	C	T	18	9584515	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon8:c.G708A:p.L236L;PPP4R1:NM_001042388:exon8:c.G759A:p.L253L;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.G759A:p.L253L;ENSG00000154845:ENST00000400555:exon8:c.G708A:p.L236L;	0.999815124684574	0.97
18	9584514	A	C	18	9584516	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.T707G:p.L236W;PPP4R1:NM_001042388:exon8:c.T758G:p.L253W;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.T758G:p.L253W;ENSG00000154845:ENST00000400555:exon8:c.T707G:p.L236W;	0.926446137986223	0.838
18	9584514	A	G	18	9584516	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.T707C:p.L236S;PPP4R1:NM_001042388:exon8:c.T758C:p.L253S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.T758C:p.L253S;ENSG00000154845:ENST00000400555:exon8:c.T707C:p.L236S;	0.896970656400925	0.864
18	9584514	A	T	18	9584516	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon8:c.T707A:p.L236X;PPP4R1:NM_001042388:exon8:c.T758A:p.L253X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon8:c.T758A:p.L253X;ENSG00000154845:ENST00000400555:exon8:c.T707A:p.L236X;	0.838969867556197	0.708
18	9584515	A	C	18	9584517	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.T706G:p.L236V;PPP4R1:NM_001042388:exon8:c.T757G:p.L253V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.T757G:p.L253V;ENSG00000154845:ENST00000400555:exon8:c.T706G:p.L236V;	1.0716434056745E-4	0.132
18	9584515	A	G	18	9584517	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon8:c.T706C:p.L236L;PPP4R1:NM_001042388:exon8:c.T757C:p.L253L;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.T757C:p.L253L;ENSG00000154845:ENST00000400555:exon8:c.T706C:p.L236L;	2.6392303582317E-5	0.002
18	9584515	A	T	18	9584517	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.T706A:p.L236M;PPP4R1:NM_001042388:exon8:c.T757A:p.L253M;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.T757A:p.L253M;ENSG00000154845:ENST00000400555:exon8:c.T706A:p.L236M;	4.27970295295047E-5	0.156
18	9584577	A	C	18	9584579	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.T644G:p.V215G;PPP4R1:NM_001042388:exon8:c.T695G:p.V232G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.T695G:p.V232G;ENSG00000154845:ENST00000400555:exon8:c.T644G:p.V215G;	0.820394531772713	0.612
18	9584577	A	G	18	9584579	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.T644C:p.V215A;PPP4R1:NM_001042388:exon8:c.T695C:p.V232A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.T695C:p.V232A;ENSG00000154845:ENST00000400555:exon8:c.T644C:p.V215A;	0.803394948532197	0.602
18	9584577	A	T	18	9584579	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.T644A:p.V215D;PPP4R1:NM_001042388:exon8:c.T695A:p.V232D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.T695A:p.V232D;ENSG00000154845:ENST00000400555:exon8:c.T644A:p.V215D;	0.820394531772713	0.604
18	9584578	C	A	18	9584580	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.G643T:p.V215F;PPP4R1:NM_001042388:exon8:c.G694T:p.V232F;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.G694T:p.V232F;ENSG00000154845:ENST00000400555:exon8:c.G643T:p.V215F;	0.999907834882124	1.0
18	9584578	C	G	18	9584580	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.G643C:p.V215L;PPP4R1:NM_001042388:exon8:c.G694C:p.V232L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.G694C:p.V232L;ENSG00000154845:ENST00000400555:exon8:c.G643C:p.V215L;	0.999908229454936	0.978
18	9584578	C	T	18	9584580	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon8:c.G643A:p.V215I;PPP4R1:NM_001042388:exon8:c.G694A:p.V232I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon8:c.G694A:p.V232I;ENSG00000154845:ENST00000400555:exon8:c.G643A:p.V215I;	0.998887455807114	0.894
18	9584579	C	A	18	9584581	y	y	splicing	PPP4R1(NM_005134:exon9:c.643-1G>T;NM_001042388:exon9:c.694-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.643-1G>T;ENST00000400556:exon9:c.694-1G>T;ENST00000285124:exon8:c.536-1G>T)	.	.	0.999990361384395	0.938
18	9584579	C	G	18	9584581	y	y	splicing	PPP4R1(NM_005134:exon9:c.643-1G>C;NM_001042388:exon9:c.694-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.643-1G>C;ENST00000400556:exon9:c.694-1G>C;ENST00000285124:exon8:c.536-1G>C)	.	.	0.999990361384395	0.938
18	9584579	C	T	18	9584581	y	y	splicing	PPP4R1(NM_005134:exon9:c.643-1G>A;NM_001042388:exon9:c.694-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.643-1G>A;ENST00000400556:exon9:c.694-1G>A;ENST00000285124:exon8:c.536-1G>A)	.	.	0.999990361384395	0.938
18	9584580	T	A	18	9584582	y	y	splicing	PPP4R1(NM_005134:exon9:c.643-2A>T;NM_001042388:exon9:c.694-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.643-2A>T;ENST00000400556:exon9:c.694-2A>T;ENST00000285124:exon8:c.536-2A>T)	.	.	0.999988247793601	0.93
18	9584580	T	C	18	9584582	y	y	splicing	PPP4R1(NM_005134:exon9:c.643-2A>G;NM_001042388:exon9:c.694-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.643-2A>G;ENST00000400556:exon9:c.694-2A>G;ENST00000285124:exon8:c.536-2A>G)	.	.	0.999988247793601	0.93
18	9584580	T	G	18	9584582	y	y	splicing	PPP4R1(NM_005134:exon9:c.643-2A>C;NM_001042388:exon9:c.694-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon9:c.643-2A>C;ENST00000400556:exon9:c.694-2A>C;ENST00000285124:exon8:c.536-2A>C)	.	.	0.999988247793601	0.93
18	9584581	G	A	18	9584583	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.28517254191041E-4	0.034
18	9584581	G	C	18	9584583	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999750896219319	0.946
18	9584581	G	T	18	9584583	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.44355505710446	0.498
18	9584582	A	C	18	9584584	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.10873406806097E-5	0.0
18	9584582	A	G	18	9584584	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.63727575449595E-5	0.0
18	9584582	A	T	18	9584584	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.55834678923964E-5	0.0
18	9584583	C	A	18	9584585	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.40859815489832E-5	0.024
18	9584583	C	G	18	9584585	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.0875832724318E-5	0.0
18	9584583	C	T	18	9584585	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.09756017204713E-4	0.002
18	9584584	A	C	18	9584586	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0192334796652479	0.318
18	9584584	A	G	18	9584586	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.42045631518479E-4	0.002
18	9584584	A	T	18	9584586	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999961756078987	0.984
18	9584585	A	C	18	9584587	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.909045919349172	0.552
18	9584585	A	G	18	9584587	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00399289390588993	0.072
18	9584585	A	T	18	9584587	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.947959329231556	0.746
18	9584586	C	A	18	9584588	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.66135916016139E-5	0.0
18	9584586	C	G	18	9584588	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.41160587952106E-5	0.002
18	9584586	C	T	18	9584588	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.62232120667417E-4	0.03
18	9584587	A	C	18	9584589	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.922667451974735	0.708
18	9584587	A	G	18	9584589	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00546496899355862	0.112
18	9584587	A	T	18	9584589	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999978348399616	0.966
18	9584588	A	C	18	9584590	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.558083972669364	0.472
18	9584588	A	G	18	9584590	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.26319654046004E-4	0.098
18	9584588	A	T	18	9584590	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.919749607871981	0.582
18	9584589	A	C	18	9584591	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999545401592081	0.866
18	9584589	A	G	18	9584591	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.993577793043837	0.622
18	9584589	A	T	18	9584591	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999785196098361	0.952
18	9584590	A	C	18	9584592	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.906103781068058	0.684
18	9584590	A	G	18	9584592	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00538163163163535	0.108
18	9584590	A	T	18	9584592	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.927065839583729	0.78
18	9584711	A	C	18	9584713	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.32673181665965E-4	0.036
18	9584711	A	G	18	9584713	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.33123954021499E-5	0.098
18	9584711	A	T	18	9584713	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.16454812602397E-5	0.088
18	9584712	A	C	18	9584714	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.22847554259228E-5	0.004
18	9584712	A	G	18	9584714	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.44244058911263E-5	0.014
18	9584712	A	T	18	9584714	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.44244058911263E-5	0.002
18	9584713	A	C	18	9584715	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00261766561076719	0.27
18	9584713	A	G	18	9584715	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0689831348394184	0.382
18	9584713	A	T	18	9584715	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0232367372356268	0.298
18	9584714	A	C	18	9584716	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.76273366115555E-5	0.104
18	9584714	A	G	18	9584716	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.65171301437988E-5	0.004
18	9584714	A	T	18	9584716	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.87663133327797E-5	0.004
18	9584715	A	C	18	9584717	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.58190654784212E-5	0.004
18	9584715	A	G	18	9584717	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.95086085613609E-5	0.002
18	9584715	A	T	18	9584717	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.63003504225124E-5	0.02
18	9584716	T	A	18	9584718	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998624287829164	0.986
18	9584716	T	C	18	9584718	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999665687751095	0.956
18	9584716	T	G	18	9584718	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999944618174771	0.974
18	9584717	A	C	18	9584719	y	y	splicing	PPP4R1(NM_005134:exon8:c.642+2T>G;NM_001042388:exon8:c.693+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.642+2T>G;ENST00000400556:exon8:c.693+2T>G;ENST00000285124:exon7:c.535+2T>G)	.	.	0.999992446697775	0.942
18	9584717	A	G	18	9584719	y	y	splicing	PPP4R1(NM_005134:exon8:c.642+2T>C;NM_001042388:exon8:c.693+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.642+2T>C;ENST00000400556:exon8:c.693+2T>C;ENST00000285124:exon7:c.535+2T>C)	.	.	0.993808943985639	0.606
18	9584717	A	T	18	9584719	y	y	splicing	PPP4R1(NM_005134:exon8:c.642+2T>A;NM_001042388:exon8:c.693+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.642+2T>A;ENST00000400556:exon8:c.693+2T>A;ENST00000285124:exon7:c.535+2T>A)	.	.	0.999992446697775	0.942
18	9584718	C	A	18	9584720	y	y	splicing	PPP4R1(NM_005134:exon8:c.642+1G>T;NM_001042388:exon8:c.693+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.642+1G>T;ENST00000400556:exon8:c.693+1G>T;ENST00000285124:exon7:c.535+1G>T)	.	.	0.999988247793601	0.936
18	9584718	C	G	18	9584720	y	y	splicing	PPP4R1(NM_005134:exon8:c.642+1G>C;NM_001042388:exon8:c.693+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.642+1G>C;ENST00000400556:exon8:c.693+1G>C;ENST00000285124:exon7:c.535+1G>C)	.	.	0.999988247793601	0.936
18	9584718	C	T	18	9584720	y	y	splicing	PPP4R1(NM_005134:exon8:c.642+1G>A;NM_001042388:exon8:c.693+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.642+1G>A;ENST00000400556:exon8:c.693+1G>A;ENST00000285124:exon7:c.535+1G>A)	.	.	0.999988247793601	0.936
18	9584719	C	A	18	9584721	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.G642T:p.K214N;PPP4R1:NM_001042388:exon7:c.G693T:p.K231N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.G693T:p.K231N;ENSG00000154845:ENST00000400555:exon7:c.G642T:p.K214N;	0.999994228525945	1.0
18	9584719	C	G	18	9584721	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.G642C:p.K214N;PPP4R1:NM_001042388:exon7:c.G693C:p.K231N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.G693C:p.K231N;ENSG00000154845:ENST00000400555:exon7:c.G642C:p.K214N;	0.999997781801936	0.998
18	9584719	C	T	18	9584721	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon7:c.G642A:p.K214K;PPP4R1:NM_001042388:exon7:c.G693A:p.K231K;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.G693A:p.K231K;ENSG00000154845:ENST00000400555:exon7:c.G642A:p.K214K;	0.99997375789629	0.998
18	9584720	T	A	18	9584722	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.A641T:p.K214M;PPP4R1:NM_001042388:exon7:c.A692T:p.K231M;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.A692T:p.K231M;ENSG00000154845:ENST00000400555:exon7:c.A641T:p.K214M;	0.999889925222121	0.996
18	9584720	T	C	18	9584722	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.A641G:p.K214R;PPP4R1:NM_001042388:exon7:c.A692G:p.K231R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.A692G:p.K231R;ENSG00000154845:ENST00000400555:exon7:c.A641G:p.K214R;	0.999886407233672	1.0
18	9584720	T	G	18	9584722	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.A641C:p.K214T;PPP4R1:NM_001042388:exon7:c.A692C:p.K231T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.A692C:p.K231T;ENSG00000154845:ENST00000400555:exon7:c.A641C:p.K214T;	0.999911864901627	0.996
18	9584721	T	A	18	9584723	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon7:c.A640T:p.K214X;PPP4R1:NM_001042388:exon7:c.A691T:p.K231X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000400556:exon7:c.A691T:p.K231X;ENSG00000154845:ENST00000400555:exon7:c.A640T:p.K214X;	0.998633208026689	0.854
18	9584721	T	C	18	9584723	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.A640G:p.K214E;PPP4R1:NM_001042388:exon7:c.A691G:p.K231E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.A691G:p.K231E;ENSG00000154845:ENST00000400555:exon7:c.A640G:p.K214E;	0.693270804106444	0.45
18	9584721	T	G	18	9584723	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.A640C:p.K214Q;PPP4R1:NM_001042388:exon7:c.A691C:p.K231Q;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.A691C:p.K231Q;ENSG00000154845:ENST00000400555:exon7:c.A640C:p.K214Q;	0.800251082368679	0.72
18	9584825	A	C	18	9584827	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.T536G:p.I179R;PPP4R1:NM_001042388:exon7:c.T587G:p.I196R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.T587G:p.I196R;ENSG00000154845:ENST00000400555:exon7:c.T536G:p.I179R;	0.00231821244971867	0.056
18	9584825	A	G	18	9584827	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.T536C:p.I179T;PPP4R1:NM_001042388:exon7:c.T587C:p.I196T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.T587C:p.I196T;ENSG00000154845:ENST00000400555:exon7:c.T536C:p.I179T;	0.00542354540019013	0.034
18	9584825	A	T	18	9584827	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.T536A:p.I179K;PPP4R1:NM_001042388:exon7:c.T587A:p.I196K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.T587A:p.I196K;ENSG00000154845:ENST00000400555:exon7:c.T536A:p.I179K;	0.00315452318048083	0.07
18	9584826	T	A	18	9584828	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.A535T:p.I179L;PPP4R1:NM_001042388:exon7:c.A586T:p.I196L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.A586T:p.I196L;ENSG00000154845:ENST00000400555:exon7:c.A535T:p.I179L;	0.0623978429420074	0.332
18	9584826	T	C	18	9584828	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.A535G:p.I179V;PPP4R1:NM_001042388:exon7:c.A586G:p.I196V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.A586G:p.I196V;ENSG00000154845:ENST00000400555:exon7:c.A535G:p.I179V;	0.433928158098934	0.424
18	9584826	T	G	18	9584828	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon7:c.A535C:p.I179L;PPP4R1:NM_001042388:exon7:c.A586C:p.I196L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon7:c.A586C:p.I196L;ENSG00000154845:ENST00000400555:exon7:c.A535C:p.I179L;	0.0340965495638314	0.222
18	9584827	C	A	18	9584829	y	y	splicing	PPP4R1(NM_005134:exon8:c.535-1G>T;NM_001042388:exon8:c.586-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.535-1G>T;ENST00000400556:exon8:c.586-1G>T;ENST00000285124:exon7:c.428-1G>T;ENST00000578875:exon7:c.479-1G>T)	.	.	0.999986675681007	0.93
18	9584827	C	G	18	9584829	y	y	splicing	PPP4R1(NM_005134:exon8:c.535-1G>C;NM_001042388:exon8:c.586-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.535-1G>C;ENST00000400556:exon8:c.586-1G>C;ENST00000285124:exon7:c.428-1G>C;ENST00000578875:exon7:c.479-1G>C)	.	.	0.999986675681007	0.93
18	9584827	C	T	18	9584829	y	y	splicing	PPP4R1(NM_005134:exon8:c.535-1G>A;NM_001042388:exon8:c.586-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.535-1G>A;ENST00000400556:exon8:c.586-1G>A;ENST00000285124:exon7:c.428-1G>A;ENST00000578875:exon7:c.479-1G>A)	.	.	0.999986675681007	0.93
18	9584828	T	A	18	9584830	y	y	splicing	PPP4R1(NM_005134:exon8:c.535-2A>T;NM_001042388:exon8:c.586-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.535-2A>T;ENST00000400556:exon8:c.586-2A>T;ENST00000285124:exon7:c.428-2A>T;ENST00000578875:exon7:c.479-2A>T)	.	.	0.999988247793601	0.926
18	9584828	T	C	18	9584830	y	y	splicing	PPP4R1(NM_005134:exon8:c.535-2A>G;NM_001042388:exon8:c.586-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.535-2A>G;ENST00000400556:exon8:c.586-2A>G;ENST00000285124:exon7:c.428-2A>G;ENST00000578875:exon7:c.479-2A>G)	.	.	0.999988247793601	0.926
18	9584828	T	G	18	9584830	y	y	splicing	PPP4R1(NM_005134:exon8:c.535-2A>C;NM_001042388:exon8:c.586-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon8:c.535-2A>C;ENST00000400556:exon8:c.586-2A>C;ENST00000285124:exon7:c.428-2A>C;ENST00000578875:exon7:c.479-2A>C)	.	.	0.999988247793601	0.926
18	9584829	A	C	18	9584831	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.990225473856325	0.71
18	9584829	A	G	18	9584831	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.14418144141281E-5	0.002
18	9584829	A	T	18	9584831	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0342360619395198	0.238
18	9584830	A	C	18	9584832	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.67810138239664E-4	0.032
18	9584830	A	G	18	9584832	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.78495331697376E-4	0.016
18	9584830	A	T	18	9584832	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00113957044406282	0.06
18	9584831	A	C	18	9584833	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.910446898514693	0.582
18	9584831	A	G	18	9584833	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00404492343714476	0.144
18	9584831	A	T	18	9584833	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.878552223681711	0.604
18	9584832	A	C	18	9584834	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999920205287412	0.964
18	9584832	A	G	18	9584834	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00398113631445784	0.068
18	9584832	A	T	18	9584834	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.712313461509255	0.446
18	9584833	T	A	18	9584835	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.5637789249326E-5	0.0
18	9584833	T	C	18	9584835	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.12880837278518E-4	0.0
18	9584833	T	G	18	9584835	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.24612696402161E-4	0.004
18	9584834	A	C	18	9584836	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.053360653484244	0.33
18	9584834	A	G	18	9584836	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.76477597255862E-5	0.008
18	9584834	A	T	18	9584836	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0397518161395656	0.274
18	9584835	A	C	18	9584837	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.385440505374622	0.45
18	9584835	A	G	18	9584837	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.13549426288416E-4	0.106
18	9584835	A	T	18	9584837	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.630855194741049	0.47
18	9584836	G	A	18	9584838	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.40320024304421E-5	0.036
18	9584836	G	C	18	9584838	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998762566956086	0.918
18	9584836	G	T	18	9584838	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.49270808663215E-5	0.062
18	9584837	T	A	18	9584839	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.94686396342939E-4	0.224
18	9584837	T	C	18	9584839	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.03919471793227E-5	0.022
18	9584837	T	G	18	9584839	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.14313120999556E-5	0.09
18	9584838	A	C	18	9584840	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.648229372023103	0.42
18	9584838	A	G	18	9584840	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.80864776269884E-5	0.044
18	9584838	A	T	18	9584840	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.727313929179626	0.418
18	9588079	T	A	18	9588081	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.07804976468356E-5	0.014
18	9588079	T	C	18	9588081	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.55410418771981E-5	0.016
18	9588079	T	G	18	9588081	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.55410418771981E-5	0.016
18	9588080	G	A	18	9588082	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.07437049959559E-4	0.002
18	9588080	G	C	18	9588082	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.96323034491673E-5	0.0
18	9588080	G	T	18	9588082	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.90031218361005E-4	0.002
18	9588081	A	C	18	9588083	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.905368701786453	0.7
18	9588081	A	G	18	9588083	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.92266912693554	0.724
18	9588081	A	T	18	9588083	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.892426187838406	0.61
18	9588082	C	A	18	9588084	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.999957233039846	0.99
18	9588082	C	G	18	9588084	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.999966501932744	0.896
18	9588082	C	T	18	9588084	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.999974534594961	0.996
18	9588083	T	A	18	9588085	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.976514665483337	0.752
18	9588083	T	C	18	9588085	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.970677639550228	0.818
18	9588083	T	G	18	9588085	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.97110361413238	0.754
18	9588084	T	A	18	9588086	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.999073868330129	0.868
18	9588084	T	C	18	9588086	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00130092550907354	0.088
18	9588084	T	G	18	9588086	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.999369282979499	0.87
18	9588085	A	C	18	9588087	y	y	splicing	PPP4R1(NM_005134:exon7:c.534+2T>G;NM_001042388:exon7:c.585+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.534+2T>G;ENST00000400556:exon7:c.585+2T>G;ENST00000285124:exon6:c.427+2T>G;ENST00000578875:exon6:c.478+2T>G)	.	.	0.99994568797423	0.928
18	9588085	A	G	18	9588087	y	y	splicing	PPP4R1(NM_005134:exon7:c.534+2T>C;NM_001042388:exon7:c.585+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.534+2T>C;ENST00000400556:exon7:c.585+2T>C;ENST00000285124:exon6:c.427+2T>C;ENST00000578875:exon6:c.478+2T>C)	.	.	0.982106279493755	0.65
18	9588085	A	T	18	9588087	y	y	splicing	PPP4R1(NM_005134:exon7:c.534+2T>A;NM_001042388:exon7:c.585+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.534+2T>A;ENST00000400556:exon7:c.585+2T>A;ENST00000285124:exon6:c.427+2T>A;ENST00000578875:exon6:c.478+2T>A)	.	.	0.999970661931818	0.926
18	9588086	C	A	18	9588088	y	y	splicing	PPP4R1(NM_005134:exon7:c.534+1G>T;NM_001042388:exon7:c.585+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.534+1G>T;ENST00000400556:exon7:c.585+1G>T;ENST00000285124:exon6:c.427+1G>T;ENST00000578875:exon6:c.478+1G>T)	.	.	0.999980428708689	0.936
18	9588086	C	G	18	9588088	y	y	splicing	PPP4R1(NM_005134:exon7:c.534+1G>C;NM_001042388:exon7:c.585+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.534+1G>C;ENST00000400556:exon7:c.585+1G>C;ENST00000285124:exon6:c.427+1G>C;ENST00000578875:exon6:c.478+1G>C)	.	.	0.999980428708689	0.93
18	9588086	C	T	18	9588088	y	y	splicing	PPP4R1(NM_005134:exon7:c.534+1G>A;NM_001042388:exon7:c.585+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.534+1G>A;ENST00000400556:exon7:c.585+1G>A;ENST00000285124:exon6:c.427+1G>A;ENST00000578875:exon6:c.478+1G>A)	.	.	0.999989072007339	0.934
18	9588087	A	C	18	9588089	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon6:c.T534G:p.A178A;PPP4R1:NM_001042388:exon6:c.T585G:p.A195A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.T585G:p.A195A;ENSG00000154845:ENST00000400555:exon6:c.T534G:p.A178A;	6.297104192842E-4	0.062
18	9588087	A	G	18	9588089	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon6:c.T534C:p.A178A;PPP4R1:NM_001042388:exon6:c.T585C:p.A195A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.T585C:p.A195A;ENSG00000154845:ENST00000400555:exon6:c.T534C:p.A178A;	7.86343598033058E-4	0.202
18	9588087	A	T	18	9588089	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon6:c.T534A:p.A178A;PPP4R1:NM_001042388:exon6:c.T585A:p.A195A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.T585A:p.A195A;ENSG00000154845:ENST00000400555:exon6:c.T534A:p.A178A;	3.37664642325653E-4	0.006
18	9588088	G	A	18	9588090	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.C533T:p.A178V;PPP4R1:NM_001042388:exon6:c.C584T:p.A195V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.C584T:p.A195V;ENSG00000154845:ENST00000400555:exon6:c.C533T:p.A178V;	0.991942363651834	0.906
18	9588088	G	C	18	9588090	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.C533G:p.A178G;PPP4R1:NM_001042388:exon6:c.C584G:p.A195G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.C584G:p.A195G;ENSG00000154845:ENST00000400555:exon6:c.C533G:p.A178G;	0.986812235059497	0.86
18	9588088	G	T	18	9588090	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.C533A:p.A178D;PPP4R1:NM_001042388:exon6:c.C584A:p.A195D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.C584A:p.A195D;ENSG00000154845:ENST00000400555:exon6:c.C533A:p.A178D;	0.966995703148061	0.692
18	9588089	C	A	18	9588091	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.G532T:p.A178S;PPP4R1:NM_001042388:exon6:c.G583T:p.A195S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.G583T:p.A195S;ENSG00000154845:ENST00000400555:exon6:c.G532T:p.A178S;	0.00133210385024909	0.158
18	9588089	C	G	18	9588091	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.G532C:p.A178P;PPP4R1:NM_001042388:exon6:c.G583C:p.A195P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.G583C:p.A195P;ENSG00000154845:ENST00000400555:exon6:c.G532C:p.A178P;	0.12697536762646	0.396
18	9588089	C	T	18	9588091	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.G532A:p.A178T;PPP4R1:NM_001042388:exon6:c.G583A:p.A195T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon6:c.G583A:p.A195T;ENSG00000154845:ENST00000400555:exon6:c.G532A:p.A178T;	1.8504932445172E-4	0.054
18	9588232	A	C	18	9588234	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.T389G:p.V130G;PPP4R1:NM_001042388:exon6:c.T440G:p.V147G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon5:c.T311G:p.V104G;ENSG00000154845:ENST00000584074:exon6:c.T311G:p.V104G;ENSG00000154845:ENST00000580745:exon6:c.T311G:p.V104G;ENSG00000154845:ENST00000400556:exon6:c.T440G:p.V147G;ENSG00000154845:ENST00000582240:exon6:c.T545G:p.V182G;ENSG00000154845:ENST00000400555:exon6:c.T389G:p.V130G;	0.185429233640911	0.31
18	9588232	A	G	18	9588234	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.T389C:p.V130A;PPP4R1:NM_001042388:exon6:c.T440C:p.V147A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon5:c.T311C:p.V104A;ENSG00000154845:ENST00000584074:exon6:c.T311C:p.V104A;ENSG00000154845:ENST00000580745:exon6:c.T311C:p.V104A;ENSG00000154845:ENST00000400556:exon6:c.T440C:p.V147A;ENSG00000154845:ENST00000582240:exon6:c.T545C:p.V182A;ENSG00000154845:ENST00000400555:exon6:c.T389C:p.V130A;	0.4663135670288	0.388
18	9588232	A	T	18	9588234	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.T389A:p.V130E;PPP4R1:NM_001042388:exon6:c.T440A:p.V147E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon5:c.T311A:p.V104E;ENSG00000154845:ENST00000584074:exon6:c.T311A:p.V104E;ENSG00000154845:ENST00000580745:exon6:c.T311A:p.V104E;ENSG00000154845:ENST00000400556:exon6:c.T440A:p.V147E;ENSG00000154845:ENST00000582240:exon6:c.T545A:p.V182E;ENSG00000154845:ENST00000400555:exon6:c.T389A:p.V130E;	0.382199275527941	0.4
18	9588233	C	A	18	9588235	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.G388T:p.V130L;PPP4R1:NM_001042388:exon6:c.G439T:p.V147L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon5:c.G310T:p.V104L;ENSG00000154845:ENST00000584074:exon6:c.G310T:p.V104L;ENSG00000154845:ENST00000580745:exon6:c.G310T:p.V104L;ENSG00000154845:ENST00000400556:exon6:c.G439T:p.V147L;ENSG00000154845:ENST00000582240:exon6:c.G544T:p.V182L;ENSG00000154845:ENST00000400555:exon6:c.G388T:p.V130L;	0.999707155833965	0.89
18	9588233	C	G	18	9588235	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.G388C:p.V130L;PPP4R1:NM_001042388:exon6:c.G439C:p.V147L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon5:c.G310C:p.V104L;ENSG00000154845:ENST00000584074:exon6:c.G310C:p.V104L;ENSG00000154845:ENST00000580745:exon6:c.G310C:p.V104L;ENSG00000154845:ENST00000400556:exon6:c.G439C:p.V147L;ENSG00000154845:ENST00000582240:exon6:c.G544C:p.V182L;ENSG00000154845:ENST00000400555:exon6:c.G388C:p.V130L;	0.999467759275823	0.874
18	9588233	C	T	18	9588235	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon6:c.G388A:p.V130M;PPP4R1:NM_001042388:exon6:c.G439A:p.V147M;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon5:c.G310A:p.V104M;ENSG00000154845:ENST00000584074:exon6:c.G310A:p.V104M;ENSG00000154845:ENST00000580745:exon6:c.G310A:p.V104M;ENSG00000154845:ENST00000400556:exon6:c.G439A:p.V147M;ENSG00000154845:ENST00000582240:exon6:c.G544A:p.V182M;ENSG00000154845:ENST00000400555:exon6:c.G388A:p.V130M;	0.994261126867917	0.752
18	9588234	C	A	18	9588236	y	y	splicing	PPP4R1(NM_005134:exon7:c.388-1G>T;NM_001042388:exon7:c.439-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.388-1G>T;ENST00000400556:exon7:c.439-1G>T;ENST00000285124:exon6:c.281-1G>T;ENST00000578875:exon6:c.332-1G>T;ENST00000584074:exon7:c.310-1G>T;ENST00000581250:exon6:c.310-1G>T;ENST00000580745:exon7:c.310-1G>T;ENST00000580182:exon8:c.444-1G>T;ENST00000582240:exon7:c.544-1G>T)	.	.	0.999990361384395	0.938
18	9588234	C	G	18	9588236	y	y	splicing	PPP4R1(NM_005134:exon7:c.388-1G>C;NM_001042388:exon7:c.439-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.388-1G>C;ENST00000400556:exon7:c.439-1G>C;ENST00000285124:exon6:c.281-1G>C;ENST00000578875:exon6:c.332-1G>C;ENST00000584074:exon7:c.310-1G>C;ENST00000581250:exon6:c.310-1G>C;ENST00000580745:exon7:c.310-1G>C;ENST00000580182:exon8:c.444-1G>C;ENST00000582240:exon7:c.544-1G>C)	.	.	0.999990361384395	0.938
18	9588234	C	T	18	9588236	y	y	splicing	PPP4R1(NM_005134:exon7:c.388-1G>A;NM_001042388:exon7:c.439-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.388-1G>A;ENST00000400556:exon7:c.439-1G>A;ENST00000285124:exon6:c.281-1G>A;ENST00000578875:exon6:c.332-1G>A;ENST00000584074:exon7:c.310-1G>A;ENST00000581250:exon6:c.310-1G>A;ENST00000580745:exon7:c.310-1G>A;ENST00000580182:exon8:c.444-1G>A;ENST00000582240:exon7:c.544-1G>A)	.	.	0.999990361384395	0.938
18	9588235	T	A	18	9588237	y	y	splicing	PPP4R1(NM_005134:exon7:c.388-2A>T;NM_001042388:exon7:c.439-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.388-2A>T;ENST00000400556:exon7:c.439-2A>T;ENST00000285124:exon6:c.281-2A>T;ENST00000578875:exon6:c.332-2A>T;ENST00000584074:exon7:c.310-2A>T;ENST00000581250:exon6:c.310-2A>T;ENST00000580745:exon7:c.310-2A>T;ENST00000580182:exon8:c.444-2A>T;ENST00000582240:exon7:c.544-2A>T)	.	.	0.999963838970064	0.88
18	9588235	T	C	18	9588237	y	y	splicing	PPP4R1(NM_005134:exon7:c.388-2A>G;NM_001042388:exon7:c.439-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.388-2A>G;ENST00000400556:exon7:c.439-2A>G;ENST00000285124:exon6:c.281-2A>G;ENST00000578875:exon6:c.332-2A>G;ENST00000584074:exon7:c.310-2A>G;ENST00000581250:exon6:c.310-2A>G;ENST00000580745:exon7:c.310-2A>G;ENST00000580182:exon8:c.444-2A>G;ENST00000582240:exon7:c.544-2A>G)	.	.	0.999963838970064	0.888
18	9588235	T	G	18	9588237	y	y	splicing	PPP4R1(NM_005134:exon7:c.388-2A>C;NM_001042388:exon7:c.439-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon7:c.388-2A>C;ENST00000400556:exon7:c.439-2A>C;ENST00000285124:exon6:c.281-2A>C;ENST00000578875:exon6:c.332-2A>C;ENST00000584074:exon7:c.310-2A>C;ENST00000581250:exon6:c.310-2A>C;ENST00000580745:exon7:c.310-2A>C;ENST00000580182:exon8:c.444-2A>C;ENST00000582240:exon7:c.544-2A>C)	.	.	0.999963838970064	0.888
18	9588236	A	C	18	9588238	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.954176734371376	0.642
18	9588236	A	G	18	9588238	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.0404380756346E-4	0.024
18	9588236	A	T	18	9588238	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.0292178774501823	0.306
18	9588237	G	A	18	9588239	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	5.01377858712933E-5	0.0
18	9588237	G	C	18	9588239	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	3.55952542600801E-5	0.0
18	9588237	G	T	18	9588239	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	5.01377858712933E-5	0.0
18	9588238	G	A	18	9588240	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	4.72482579778481E-5	0.0
18	9588238	G	C	18	9588240	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.02258618857134E-4	0.036
18	9588238	G	T	18	9588240	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.14029397645586E-4	0.03
18	9588239	A	C	18	9588241	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00192075846198613	0.106
18	9588239	A	G	18	9588241	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	6.35249627571298E-5	0.02
18	9588239	A	T	18	9588241	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.44679765632403E-4	0.042
18	9588240	G	A	18	9588242	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	4.86235862712677E-5	0.0
18	9588240	G	C	18	9588242	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.95239265686076E-4	0.072
18	9588240	G	T	18	9588242	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	3.43211702760216E-4	0.138
18	9588241	A	C	18	9588243	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	8.33154740584113E-4	0.052
18	9588241	A	G	18	9588243	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.87622595613271E-4	0.018
18	9588241	A	T	18	9588243	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00313188109342989	0.08
18	9588242	A	C	18	9588244	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	5.59897349389796E-4	0.102
18	9588242	A	G	18	9588244	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	9.1910390371036E-5	0.044
18	9588242	A	T	18	9588244	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	4.60553980552934E-4	0.08
18	9588243	A	C	18	9588245	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	3.49047256338842E-5	0.056
18	9588243	A	G	18	9588245	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.77018360321938E-5	0.022
18	9588243	A	T	18	9588245	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.50735531103091E-4	0.124
18	9588244	A	C	18	9588246	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	7.68231579884006E-4	0.128
18	9588244	A	G	18	9588246	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.38908760275694E-4	0.072
18	9588244	A	T	18	9588246	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.47404908886563E-4	0.132
18	9588245	A	C	18	9588247	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.997138368501579	0.862
18	9588245	A	G	18	9588247	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.14872970594463E-4	0.016
18	9588245	A	T	18	9588247	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	3.88329514628967E-4	0.062
18	9588701	A	C	18	9588703	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.044435294314274	0.106
18	9588701	A	G	18	9588703	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.0779674580781552	0.16
18	9588701	A	T	18	9588703	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.0579370398021417	0.17
18	9588702	C	A	18	9588704	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.17013730669466E-4	0.002
18	9588702	C	G	18	9588704	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.97184499173368E-4	0.0
18	9588702	C	T	18	9588704	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.97184499173368E-4	0.002
18	9588703	T	A	18	9588705	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	4.43502918438682E-4	0.008
18	9588703	T	C	18	9588705	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	5.48762319977818E-4	0.008
18	9588703	T	G	18	9588705	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00505132908341984	0.042
18	9588704	C	A	18	9588706	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.945729896596787	0.612
18	9588704	C	G	18	9588706	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.945199795675641	0.65
18	9588704	C	T	18	9588706	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.957916165570987	0.676
18	9588705	T	A	18	9588707	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.619814116446152	0.298
18	9588705	T	C	18	9588707	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.43639254095101	0.324
18	9588705	T	G	18	9588707	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.288064575706956	0.308
18	9588706	T	A	18	9588708	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.886578811650813	0.628
18	9588706	T	C	18	9588708	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00192210562171303	0.106
18	9588706	T	G	18	9588708	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.982417460840966	0.76
18	9588707	A	C	18	9588709	y	y	splicing	PPP4R1(NM_005134:exon6:c.387+2T>G;NM_001042388:exon6:c.438+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.387+2T>G;ENST00000400556:exon6:c.438+2T>G;ENST00000285124:exon5:c.280+2T>G;ENST00000578875:exon5:c.331+2T>G;ENST00000584074:exon6:c.309+2T>G;ENST00000581250:exon5:c.309+2T>G;ENST00000580745:exon6:c.309+2T>G;ENST00000580182:exon7:c.443+2T>G;ENST00000582240:exon6:c.543+2T>G)	.	.	0.999992446697775	0.934
18	9588707	A	G	18	9588709	y	y	splicing	PPP4R1(NM_005134:exon6:c.387+2T>C;NM_001042388:exon6:c.438+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.387+2T>C;ENST00000400556:exon6:c.438+2T>C;ENST00000285124:exon5:c.280+2T>C;ENST00000578875:exon5:c.331+2T>C;ENST00000584074:exon6:c.309+2T>C;ENST00000581250:exon5:c.309+2T>C;ENST00000580745:exon6:c.309+2T>C;ENST00000580182:exon7:c.443+2T>C;ENST00000582240:exon6:c.543+2T>C)	.	.	0.993808943985639	0.67
18	9588707	A	T	18	9588709	y	y	splicing	PPP4R1(NM_005134:exon6:c.387+2T>A;NM_001042388:exon6:c.438+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.387+2T>A;ENST00000400556:exon6:c.438+2T>A;ENST00000285124:exon5:c.280+2T>A;ENST00000578875:exon5:c.331+2T>A;ENST00000584074:exon6:c.309+2T>A;ENST00000581250:exon5:c.309+2T>A;ENST00000580745:exon6:c.309+2T>A;ENST00000580182:exon7:c.443+2T>A;ENST00000582240:exon6:c.543+2T>A)	.	.	0.999992446697775	0.934
18	9588708	C	A	18	9588710	y	y	splicing	PPP4R1(NM_005134:exon6:c.387+1G>T;NM_001042388:exon6:c.438+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.387+1G>T;ENST00000400556:exon6:c.438+1G>T;ENST00000285124:exon5:c.280+1G>T;ENST00000578875:exon5:c.331+1G>T;ENST00000584074:exon6:c.309+1G>T;ENST00000581250:exon5:c.309+1G>T;ENST00000580745:exon6:c.309+1G>T;ENST00000580182:exon7:c.443+1G>T;ENST00000582240:exon6:c.543+1G>T)	.	.	0.999990361384395	0.928
18	9588708	C	G	18	9588710	y	y	splicing	PPP4R1(NM_005134:exon6:c.387+1G>C;NM_001042388:exon6:c.438+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.387+1G>C;ENST00000400556:exon6:c.438+1G>C;ENST00000285124:exon5:c.280+1G>C;ENST00000578875:exon5:c.331+1G>C;ENST00000584074:exon6:c.309+1G>C;ENST00000581250:exon5:c.309+1G>C;ENST00000580745:exon6:c.309+1G>C;ENST00000580182:exon7:c.443+1G>C;ENST00000582240:exon6:c.543+1G>C)	.	.	0.999990361384395	0.928
18	9588708	C	T	18	9588710	y	y	splicing	PPP4R1(NM_005134:exon6:c.387+1G>A;NM_001042388:exon6:c.438+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.387+1G>A;ENST00000400556:exon6:c.438+1G>A;ENST00000285124:exon5:c.280+1G>A;ENST00000578875:exon5:c.331+1G>A;ENST00000584074:exon6:c.309+1G>A;ENST00000581250:exon5:c.309+1G>A;ENST00000580745:exon6:c.309+1G>A;ENST00000580182:exon7:c.443+1G>A;ENST00000582240:exon6:c.543+1G>A)	.	.	0.999990361384395	0.928
18	9588709	C	A	18	9588711	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.G387T:p.Q129H;PPP4R1:NM_001042388:exon5:c.G438T:p.Q146H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.G309T:p.Q103H;ENSG00000154845:ENST00000584074:exon5:c.G309T:p.Q103H;ENSG00000154845:ENST00000580745:exon5:c.G309T:p.Q103H;ENSG00000154845:ENST00000400556:exon5:c.G438T:p.Q146H;ENSG00000154845:ENST00000582240:exon5:c.G543T:p.Q181H;ENSG00000154845:ENST00000400555:exon5:c.G387T:p.Q129H;	0.99915715749475	0.95
18	9588709	C	G	18	9588711	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.G387C:p.Q129H;PPP4R1:NM_001042388:exon5:c.G438C:p.Q146H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.G309C:p.Q103H;ENSG00000154845:ENST00000584074:exon5:c.G309C:p.Q103H;ENSG00000154845:ENST00000580745:exon5:c.G309C:p.Q103H;ENSG00000154845:ENST00000400556:exon5:c.G438C:p.Q146H;ENSG00000154845:ENST00000582240:exon5:c.G543C:p.Q181H;ENSG00000154845:ENST00000400555:exon5:c.G387C:p.Q129H;	0.999283588686118	0.898
18	9588709	C	T	18	9588711	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon5:c.G387A:p.Q129Q;PPP4R1:NM_001042388:exon5:c.G438A:p.Q146Q;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.G309A:p.Q103Q;ENSG00000154845:ENST00000584074:exon5:c.G309A:p.Q103Q;ENSG00000154845:ENST00000580745:exon5:c.G309A:p.Q103Q;ENSG00000154845:ENST00000400556:exon5:c.G438A:p.Q146Q;ENSG00000154845:ENST00000582240:exon5:c.G543A:p.Q181Q;ENSG00000154845:ENST00000400555:exon5:c.G387A:p.Q129Q;	0.999834664822706	0.956
18	9588710	T	A	18	9588712	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.A386T:p.Q129L;PPP4R1:NM_001042388:exon5:c.A437T:p.Q146L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.A308T:p.Q103L;ENSG00000154845:ENST00000584074:exon5:c.A308T:p.Q103L;ENSG00000154845:ENST00000580745:exon5:c.A308T:p.Q103L;ENSG00000154845:ENST00000400556:exon5:c.A437T:p.Q146L;ENSG00000154845:ENST00000582240:exon5:c.A542T:p.Q181L;ENSG00000154845:ENST00000400555:exon5:c.A386T:p.Q129L;	0.988199044162361	0.548
18	9588710	T	C	18	9588712	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.A386G:p.Q129R;PPP4R1:NM_001042388:exon5:c.A437G:p.Q146R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.A308G:p.Q103R;ENSG00000154845:ENST00000584074:exon5:c.A308G:p.Q103R;ENSG00000154845:ENST00000580745:exon5:c.A308G:p.Q103R;ENSG00000154845:ENST00000400556:exon5:c.A437G:p.Q146R;ENSG00000154845:ENST00000582240:exon5:c.A542G:p.Q181R;ENSG00000154845:ENST00000400555:exon5:c.A386G:p.Q129R;	0.992008914357855	0.88
18	9588710	T	G	18	9588712	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.A386C:p.Q129P;PPP4R1:NM_001042388:exon5:c.A437C:p.Q146P;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.A308C:p.Q103P;ENSG00000154845:ENST00000584074:exon5:c.A308C:p.Q103P;ENSG00000154845:ENST00000580745:exon5:c.A308C:p.Q103P;ENSG00000154845:ENST00000400556:exon5:c.A437C:p.Q146P;ENSG00000154845:ENST00000582240:exon5:c.A542C:p.Q181P;ENSG00000154845:ENST00000400555:exon5:c.A386C:p.Q129P;	0.98317395904701	0.788
18	9588711	G	A	18	9588713	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon5:c.C385T:p.Q129X;PPP4R1:NM_001042388:exon5:c.C436T:p.Q146X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000581250:exon4:c.C307T:p.Q103X;ENSG00000154845:ENST00000584074:exon5:c.C307T:p.Q103X;ENSG00000154845:ENST00000580745:exon5:c.C307T:p.Q103X;ENSG00000154845:ENST00000400556:exon5:c.C436T:p.Q146X;ENSG00000154845:ENST00000582240:exon5:c.C541T:p.Q181X;ENSG00000154845:ENST00000400555:exon5:c.C385T:p.Q129X;	0.997047939575449	0.684
18	9588711	G	C	18	9588713	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.C385G:p.Q129E;PPP4R1:NM_001042388:exon5:c.C436G:p.Q146E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.C307G:p.Q103E;ENSG00000154845:ENST00000584074:exon5:c.C307G:p.Q103E;ENSG00000154845:ENST00000580745:exon5:c.C307G:p.Q103E;ENSG00000154845:ENST00000400556:exon5:c.C436G:p.Q146E;ENSG00000154845:ENST00000582240:exon5:c.C541G:p.Q181E;ENSG00000154845:ENST00000400555:exon5:c.C385G:p.Q129E;	0.914452130581064	0.57
18	9588711	G	T	18	9588713	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.C385A:p.Q129K;PPP4R1:NM_001042388:exon5:c.C436A:p.Q146K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.C307A:p.Q103K;ENSG00000154845:ENST00000584074:exon5:c.C307A:p.Q103K;ENSG00000154845:ENST00000580745:exon5:c.C307A:p.Q103K;ENSG00000154845:ENST00000400556:exon5:c.C436A:p.Q146K;ENSG00000154845:ENST00000582240:exon5:c.C541A:p.Q181K;ENSG00000154845:ENST00000400555:exon5:c.C385A:p.Q129K;	0.863599349397933	0.682
18	9588850	T	A	18	9588852	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.A246T:p.E82D;PPP4R1:NM_001042388:exon5:c.A297T:p.E99D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon4:c.A139T:p.T47S;ENSG00000154845:ENST00000581250:exon4:c.A168T:p.E56D;ENSG00000154845:ENST00000584074:exon5:c.A168T:p.E56D;ENSG00000154845:ENST00000580745:exon5:c.A168T:p.E56D;ENSG00000154845:ENST00000400556:exon5:c.A297T:p.E99D;ENSG00000154845:ENST00000582240:exon5:c.A402T:p.E134D;ENSG00000154845:ENST00000581835:exon4:c.A168T:p.E56D;ENSG00000154845:ENST00000578875:exon4:c.A190T:p.T64S;ENSG00000154845:ENST00000400555:exon5:c.A246T:p.E82D;	4.26267077578965E-4	0.08
18	9588850	T	C	18	9588852	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon5:c.A246G:p.E82E;PPP4R1:NM_001042388:exon5:c.A297G:p.E99E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon4:c.A139G:p.T47A;ENSG00000154845:ENST00000578875:exon4:c.A190G:p.T64A;	2.88749241850135E-4	0.014
18	9588850	T	G	18	9588852	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.A246C:p.E82D;PPP4R1:NM_001042388:exon5:c.A297C:p.E99D;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon4:c.A139C:p.T47P;ENSG00000154845:ENST00000581250:exon4:c.A168C:p.E56D;ENSG00000154845:ENST00000584074:exon5:c.A168C:p.E56D;ENSG00000154845:ENST00000580745:exon5:c.A168C:p.E56D;ENSG00000154845:ENST00000400556:exon5:c.A297C:p.E99D;ENSG00000154845:ENST00000582240:exon5:c.A402C:p.E134D;ENSG00000154845:ENST00000581835:exon4:c.A168C:p.E56D;ENSG00000154845:ENST00000578875:exon4:c.A190C:p.T64P;ENSG00000154845:ENST00000400555:exon5:c.A246C:p.E82D;	4.0383657644065E-4	0.02
18	9588851	T	A	18	9588853	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.A245T:p.E82V;PPP4R1:NM_001042388:exon5:c.A296T:p.E99V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon4:c.A138T:p.R46S;ENSG00000154845:ENST00000581250:exon4:c.A167T:p.E56V;ENSG00000154845:ENST00000584074:exon5:c.A167T:p.E56V;ENSG00000154845:ENST00000580745:exon5:c.A167T:p.E56V;ENSG00000154845:ENST00000400556:exon5:c.A296T:p.E99V;ENSG00000154845:ENST00000582240:exon5:c.A401T:p.E134V;ENSG00000154845:ENST00000581835:exon4:c.A167T:p.E56V;ENSG00000154845:ENST00000578875:exon4:c.A189T:p.R63S;ENSG00000154845:ENST00000400555:exon5:c.A245T:p.E82V;	0.947754758479479	0.626
18	9588851	T	C	18	9588853	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.A245G:p.E82G;PPP4R1:NM_001042388:exon5:c.A296G:p.E99G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon4:c.A167G:p.E56G;ENSG00000154845:ENST00000584074:exon5:c.A167G:p.E56G;ENSG00000154845:ENST00000580745:exon5:c.A167G:p.E56G;ENSG00000154845:ENST00000400556:exon5:c.A296G:p.E99G;ENSG00000154845:ENST00000582240:exon5:c.A401G:p.E134G;ENSG00000154845:ENST00000581835:exon4:c.A167G:p.E56G;ENSG00000154845:ENST00000400555:exon5:c.A245G:p.E82G;	0.663576074570893	0.416
18	9588851	T	G	18	9588853	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon5:c.A245C:p.E82A;PPP4R1:NM_001042388:exon5:c.A296C:p.E99A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon4:c.A138C:p.R46S;ENSG00000154845:ENST00000581250:exon4:c.A167C:p.E56A;ENSG00000154845:ENST00000584074:exon5:c.A167C:p.E56A;ENSG00000154845:ENST00000580745:exon5:c.A167C:p.E56A;ENSG00000154845:ENST00000400556:exon5:c.A296C:p.E99A;ENSG00000154845:ENST00000582240:exon5:c.A401C:p.E134A;ENSG00000154845:ENST00000581835:exon4:c.A167C:p.E56A;ENSG00000154845:ENST00000578875:exon4:c.A189C:p.R63S;ENSG00000154845:ENST00000400555:exon5:c.A245C:p.E82A;	0.923524460344239	0.69
18	9588852	C	A	18	9588854	y	y	splicing	PPP4R1(NM_005134:exon6:c.245-1G>T;NM_001042388:exon6:c.296-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.245-1G>T;ENST00000400556:exon6:c.296-1G>T;ENST00000285124:exon5:c.138-1G>T;ENST00000578875:exon5:c.189-1G>T;ENST00000584074:exon6:c.167-1G>T;ENST00000581250:exon5:c.167-1G>T;ENST00000580745:exon6:c.167-1G>T;ENST00000580182:exon7:c.301-1G>T;ENST00000582240:exon6:c.401-1G>T;ENST00000581835:exon5:c.167-1G>T;ENST00000583092:exon7:c.479-1G>T)	.	.	0.999991412108771	0.936
18	9588852	C	G	18	9588854	y	y	splicing	PPP4R1(NM_005134:exon6:c.245-1G>C;NM_001042388:exon6:c.296-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.245-1G>C;ENST00000400556:exon6:c.296-1G>C;ENST00000285124:exon5:c.138-1G>C;ENST00000578875:exon5:c.189-1G>C;ENST00000584074:exon6:c.167-1G>C;ENST00000581250:exon5:c.167-1G>C;ENST00000580745:exon6:c.167-1G>C;ENST00000580182:exon7:c.301-1G>C;ENST00000582240:exon6:c.401-1G>C;ENST00000581835:exon5:c.167-1G>C;ENST00000583092:exon7:c.479-1G>C)	.	.	0.999991412108771	0.936
18	9588852	C	T	18	9588854	y	y	splicing	PPP4R1(NM_005134:exon6:c.245-1G>A;NM_001042388:exon6:c.296-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.245-1G>A;ENST00000400556:exon6:c.296-1G>A;ENST00000285124:exon5:c.138-1G>A;ENST00000578875:exon5:c.189-1G>A;ENST00000584074:exon6:c.167-1G>A;ENST00000581250:exon5:c.167-1G>A;ENST00000580745:exon6:c.167-1G>A;ENST00000580182:exon7:c.301-1G>A;ENST00000582240:exon6:c.401-1G>A;ENST00000581835:exon5:c.167-1G>A;ENST00000583092:exon7:c.479-1G>A)	.	.	0.999991412108771	0.936
18	9588853	T	A	18	9588855	y	y	splicing	PPP4R1(NM_005134:exon6:c.245-2A>T;NM_001042388:exon6:c.296-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.245-2A>T;ENST00000400556:exon6:c.296-2A>T;ENST00000285124:exon5:c.138-2A>T;ENST00000578875:exon5:c.189-2A>T;ENST00000584074:exon6:c.167-2A>T;ENST00000581250:exon5:c.167-2A>T;ENST00000580745:exon6:c.167-2A>T;ENST00000580182:exon7:c.301-2A>T;ENST00000582240:exon6:c.401-2A>T;ENST00000581835:exon5:c.167-2A>T;ENST00000583092:exon7:c.479-2A>T)	.	.	0.999990764389106	0.932
18	9588853	T	C	18	9588855	y	y	splicing	PPP4R1(NM_005134:exon6:c.245-2A>G;NM_001042388:exon6:c.296-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.245-2A>G;ENST00000400556:exon6:c.296-2A>G;ENST00000285124:exon5:c.138-2A>G;ENST00000578875:exon5:c.189-2A>G;ENST00000584074:exon6:c.167-2A>G;ENST00000581250:exon5:c.167-2A>G;ENST00000580745:exon6:c.167-2A>G;ENST00000580182:exon7:c.301-2A>G;ENST00000582240:exon6:c.401-2A>G;ENST00000581835:exon5:c.167-2A>G;ENST00000583092:exon7:c.479-2A>G)	.	.	0.999990764389106	0.932
18	9588853	T	G	18	9588855	y	y	splicing	PPP4R1(NM_005134:exon6:c.245-2A>C;NM_001042388:exon6:c.296-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon6:c.245-2A>C;ENST00000400556:exon6:c.296-2A>C;ENST00000285124:exon5:c.138-2A>C;ENST00000578875:exon5:c.189-2A>C;ENST00000584074:exon6:c.167-2A>C;ENST00000581250:exon5:c.167-2A>C;ENST00000580745:exon6:c.167-2A>C;ENST00000580182:exon7:c.301-2A>C;ENST00000582240:exon6:c.401-2A>C;ENST00000581835:exon5:c.167-2A>C;ENST00000583092:exon7:c.479-2A>C)	.	.	0.999990764389106	0.932
18	9588854	A	C	18	9588856	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.981465492236162	0.678
18	9588854	A	G	18	9588856	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.60345481494392E-5	0.012
18	9588854	A	T	18	9588856	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.102481182814928	0.472
18	9588855	T	A	18	9588857	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	7.96217174854311E-5	0.09
18	9588855	T	C	18	9588857	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.998905996122024	0.89
18	9588855	T	G	18	9588857	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.04242773533465E-4	0.082
18	9588856	T	A	18	9588858	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	2.97967663699814E-5	0.046
18	9588856	T	C	18	9588858	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.9614977312245E-4	0.072
18	9588856	T	G	18	9588858	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	6.57164743818443E-5	0.012
18	9588857	G	A	18	9588859	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	4.43075121784493E-4	0.006
18	9588857	G	C	18	9588859	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.110438245835262	0.558
18	9588857	G	T	18	9588859	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.0553985455853898	0.444
18	9588858	A	C	18	9588860	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.858232361896206	0.708
18	9588858	A	G	18	9588860	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00158466318808552	0.166
18	9588858	A	T	18	9588860	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.899225404383122	0.79
18	9588859	A	C	18	9588861	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00654269033164186	0.204
18	9588859	A	G	18	9588861	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.61324567977723E-4	0.092
18	9588859	A	T	18	9588861	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00531002445890809	0.226
18	9588860	A	C	18	9588862	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.999981651558071	0.978
18	9588860	A	G	18	9588862	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00899526104524643	0.152
18	9588860	A	T	18	9588862	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.995133536953029	0.896
18	9588861	T	A	18	9588863	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	4.91906342214122E-5	0.03
18	9588861	T	C	18	9588863	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	9.08135830611827E-5	0.032
18	9588861	T	G	18	9588863	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	1.0964241165478E-4	0.024
18	9588862	A	C	18	9588864	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.833177899858871	0.758
18	9588862	A	G	18	9588864	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.0180742437576653	0.312
18	9588862	A	T	18	9588864	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.9561516354339	0.752
18	9588863	A	C	18	9588865	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.407485466769827	0.522
18	9588863	A	G	18	9588865	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.00213110984067583	0.226
18	9588863	A	T	18	9588865	y	y	intronic	PPP4R1	.	.	ncRNA_intronic	ENSG00000266541	.	.	0.881601358368521	0.706
18	9593758	A	C	18	9593760	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0127361850210005	0.122
18	9593758	A	G	18	9593760	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00269376121479779	0.012
18	9593758	A	T	18	9593760	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00402817486366722	0.024
18	9593759	C	A	18	9593761	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.82094067339917E-5	0.0
18	9593759	C	G	18	9593761	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.88708556619802E-4	0.0
18	9593759	C	T	18	9593761	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.71206761619233E-4	0.0
18	9593760	A	C	18	9593762	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.162706327798094	0.326
18	9593760	A	G	18	9593762	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.439497204966086	0.338
18	9593760	A	T	18	9593762	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.179200506091723	0.254
18	9593761	T	A	18	9593763	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.81427238319331E-4	0.012
18	9593761	T	C	18	9593763	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.10877058804612E-4	0.058
18	9593761	T	G	18	9593763	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00119686527333884	0.11
18	9593762	A	C	18	9593764	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.04944258659832E-4	0.006
18	9593762	A	G	18	9593764	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00626230458283629	0.094
18	9593762	A	T	18	9593764	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.03022456431688E-4	0.026
18	9593763	T	A	18	9593765	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999576865958388	0.936
18	9593763	T	C	18	9593765	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999064605968002	0.942
18	9593763	T	G	18	9593765	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999965500872911	0.958
18	9593764	A	C	18	9593766	y	y	splicing	PPP4R1(NM_005134:exon5:c.244+2T>G;NM_001042388:exon5:c.295+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.244+2T>G;ENST00000400556:exon5:c.295+2T>G;ENST00000584074:exon5:c.166+2T>G;ENST00000581250:exon4:c.166+2T>G;ENST00000580745:exon5:c.166+2T>G;ENST00000580182:exon6:c.300+2T>G;ENST00000582240:exon5:c.400+2T>G;ENST00000581835:exon4:c.166+2T>G;ENST00000583092:exon6:c.478+2T>G)	.	.	0.999988247793601	0.932
18	9593764	A	G	18	9593766	y	y	splicing	PPP4R1(NM_005134:exon5:c.244+2T>C;NM_001042388:exon5:c.295+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.244+2T>C;ENST00000400556:exon5:c.295+2T>C;ENST00000584074:exon5:c.166+2T>C;ENST00000581250:exon4:c.166+2T>C;ENST00000580745:exon5:c.166+2T>C;ENST00000580182:exon6:c.300+2T>C;ENST00000582240:exon5:c.400+2T>C;ENST00000581835:exon4:c.166+2T>C;ENST00000583092:exon6:c.478+2T>C)	.	.	0.994669226766359	0.674
18	9593764	A	T	18	9593766	y	y	splicing	PPP4R1(NM_005134:exon5:c.244+2T>A;NM_001042388:exon5:c.295+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.244+2T>A;ENST00000400556:exon5:c.295+2T>A;ENST00000584074:exon5:c.166+2T>A;ENST00000581250:exon4:c.166+2T>A;ENST00000580745:exon5:c.166+2T>A;ENST00000580182:exon6:c.300+2T>A;ENST00000582240:exon5:c.400+2T>A;ENST00000581835:exon4:c.166+2T>A;ENST00000583092:exon6:c.478+2T>A)	.	.	0.999988247793601	0.932
18	9593765	C	A	18	9593767	y	y	splicing	PPP4R1(NM_005134:exon5:c.244+1G>T;NM_001042388:exon5:c.295+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.244+1G>T;ENST00000400556:exon5:c.295+1G>T;ENST00000584074:exon5:c.166+1G>T;ENST00000581250:exon4:c.166+1G>T;ENST00000580745:exon5:c.166+1G>T;ENST00000580182:exon6:c.300+1G>T;ENST00000582240:exon5:c.400+1G>T;ENST00000581835:exon4:c.166+1G>T;ENST00000583092:exon6:c.478+1G>T)	.	.	0.999989072007339	0.934
18	9593765	C	G	18	9593767	y	y	splicing	PPP4R1(NM_005134:exon5:c.244+1G>C;NM_001042388:exon5:c.295+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.244+1G>C;ENST00000400556:exon5:c.295+1G>C;ENST00000584074:exon5:c.166+1G>C;ENST00000581250:exon4:c.166+1G>C;ENST00000580745:exon5:c.166+1G>C;ENST00000580182:exon6:c.300+1G>C;ENST00000582240:exon5:c.400+1G>C;ENST00000581835:exon4:c.166+1G>C;ENST00000583092:exon6:c.478+1G>C)	.	.	0.999989072007339	0.934
18	9593765	C	T	18	9593767	y	y	splicing	PPP4R1(NM_005134:exon5:c.244+1G>A;NM_001042388:exon5:c.295+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.244+1G>A;ENST00000400556:exon5:c.295+1G>A;ENST00000584074:exon5:c.166+1G>A;ENST00000581250:exon4:c.166+1G>A;ENST00000580745:exon5:c.166+1G>A;ENST00000580182:exon6:c.300+1G>A;ENST00000582240:exon5:c.400+1G>A;ENST00000581835:exon4:c.166+1G>A;ENST00000583092:exon6:c.478+1G>A)	.	.	0.999989072007339	0.934
18	9593766	C	A	18	9593768	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon4:c.G244T:p.E82X;PPP4R1:NM_001042388:exon4:c.G295T:p.E99X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000581250:exon3:c.G166T:p.E56X;ENSG00000154845:ENST00000584074:exon4:c.G166T:p.E56X;ENSG00000154845:ENST00000580745:exon4:c.G166T:p.E56X;ENSG00000154845:ENST00000400556:exon4:c.G295T:p.E99X;ENSG00000154845:ENST00000582240:exon4:c.G400T:p.E134X;ENSG00000154845:ENST00000581835:exon3:c.G166T:p.E56X;ENSG00000154845:ENST00000400555:exon4:c.G244T:p.E82X;	0.99999139671287	1.0
18	9593766	C	G	18	9593768	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon4:c.G244C:p.E82Q;PPP4R1:NM_001042388:exon4:c.G295C:p.E99Q;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.G166C:p.E56Q;ENSG00000154845:ENST00000584074:exon4:c.G166C:p.E56Q;ENSG00000154845:ENST00000580745:exon4:c.G166C:p.E56Q;ENSG00000154845:ENST00000400556:exon4:c.G295C:p.E99Q;ENSG00000154845:ENST00000582240:exon4:c.G400C:p.E134Q;ENSG00000154845:ENST00000581835:exon3:c.G166C:p.E56Q;ENSG00000154845:ENST00000400555:exon4:c.G244C:p.E82Q;	0.999997715797079	0.994
18	9593766	C	T	18	9593768	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon4:c.G244A:p.E82K;PPP4R1:NM_001042388:exon4:c.G295A:p.E99K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.G166A:p.E56K;ENSG00000154845:ENST00000584074:exon4:c.G166A:p.E56K;ENSG00000154845:ENST00000580745:exon4:c.G166A:p.E56K;ENSG00000154845:ENST00000400556:exon4:c.G295A:p.E99K;ENSG00000154845:ENST00000582240:exon4:c.G400A:p.E134K;ENSG00000154845:ENST00000581835:exon3:c.G166A:p.E56K;ENSG00000154845:ENST00000400555:exon4:c.G244A:p.E82K;	0.99999118016347	0.996
18	9593767	T	A	18	9593769	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon4:c.A243T:p.S81S;PPP4R1:NM_001042388:exon4:c.A294T:p.S98S;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.A165T:p.S55S;ENSG00000154845:ENST00000584074:exon4:c.A165T:p.S55S;ENSG00000154845:ENST00000580745:exon4:c.A165T:p.S55S;ENSG00000154845:ENST00000400556:exon4:c.A294T:p.S98S;ENSG00000154845:ENST00000582240:exon4:c.A399T:p.S133S;ENSG00000154845:ENST00000581835:exon3:c.A165T:p.S55S;ENSG00000154845:ENST00000400555:exon4:c.A243T:p.S81S;	0.99921364716099	0.97
18	9593767	T	C	18	9593769	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon4:c.A243G:p.S81S;PPP4R1:NM_001042388:exon4:c.A294G:p.S98S;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.A165G:p.S55S;ENSG00000154845:ENST00000584074:exon4:c.A165G:p.S55S;ENSG00000154845:ENST00000580745:exon4:c.A165G:p.S55S;ENSG00000154845:ENST00000400556:exon4:c.A294G:p.S98S;ENSG00000154845:ENST00000582240:exon4:c.A399G:p.S133S;ENSG00000154845:ENST00000581835:exon3:c.A165G:p.S55S;ENSG00000154845:ENST00000400555:exon4:c.A243G:p.S81S;	0.997471177351133	0.934
18	9593767	T	G	18	9593769	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon4:c.A243C:p.S81S;PPP4R1:NM_001042388:exon4:c.A294C:p.S98S;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.A165C:p.S55S;ENSG00000154845:ENST00000584074:exon4:c.A165C:p.S55S;ENSG00000154845:ENST00000580745:exon4:c.A165C:p.S55S;ENSG00000154845:ENST00000400556:exon4:c.A294C:p.S98S;ENSG00000154845:ENST00000582240:exon4:c.A399C:p.S133S;ENSG00000154845:ENST00000581835:exon3:c.A165C:p.S55S;ENSG00000154845:ENST00000400555:exon4:c.A243C:p.S81S;	0.996928806634967	0.898
18	9593768	G	A	18	9593770	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon4:c.C242T:p.S81L;PPP4R1:NM_001042388:exon4:c.C293T:p.S98L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.C164T:p.S55L;ENSG00000154845:ENST00000584074:exon4:c.C164T:p.S55L;ENSG00000154845:ENST00000580745:exon4:c.C164T:p.S55L;ENSG00000154845:ENST00000400556:exon4:c.C293T:p.S98L;ENSG00000154845:ENST00000582240:exon4:c.C398T:p.S133L;ENSG00000154845:ENST00000581835:exon3:c.C164T:p.S55L;ENSG00000154845:ENST00000400555:exon4:c.C242T:p.S81L;	0.998618426282701	0.932
18	9593768	G	C	18	9593770	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon4:c.C242G:p.S81X;PPP4R1:NM_001042388:exon4:c.C293G:p.S98X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000581250:exon3:c.C164G:p.S55X;ENSG00000154845:ENST00000584074:exon4:c.C164G:p.S55X;ENSG00000154845:ENST00000580745:exon4:c.C164G:p.S55X;ENSG00000154845:ENST00000400556:exon4:c.C293G:p.S98X;ENSG00000154845:ENST00000582240:exon4:c.C398G:p.S133X;ENSG00000154845:ENST00000581835:exon3:c.C164G:p.S55X;ENSG00000154845:ENST00000400555:exon4:c.C242G:p.S81X;	0.96166834291389	0.708
18	9593768	G	T	18	9593770	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon4:c.C242A:p.S81X;PPP4R1:NM_001042388:exon4:c.C293A:p.S98X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000581250:exon3:c.C164A:p.S55X;ENSG00000154845:ENST00000584074:exon4:c.C164A:p.S55X;ENSG00000154845:ENST00000580745:exon4:c.C164A:p.S55X;ENSG00000154845:ENST00000400556:exon4:c.C293A:p.S98X;ENSG00000154845:ENST00000582240:exon4:c.C398A:p.S133X;ENSG00000154845:ENST00000581835:exon3:c.C164A:p.S55X;ENSG00000154845:ENST00000400555:exon4:c.C242A:p.S81X;	0.92920290641158	0.858
18	9593871	G	A	18	9593873	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon4:c.C139T:p.Q47X;PPP4R1:NM_001042388:exon4:c.C190T:p.Q64X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000581250:exon3:c.C61T:p.Q21X;ENSG00000154845:ENST00000584074:exon4:c.C61T:p.Q21X;ENSG00000154845:ENST00000580745:exon4:c.C61T:p.Q21X;ENSG00000154845:ENST00000400556:exon4:c.C190T:p.Q64X;ENSG00000154845:ENST00000582240:exon4:c.C295T:p.Q99X;ENSG00000154845:ENST00000581835:exon3:c.C61T:p.Q21X;ENSG00000154845:ENST00000400555:exon4:c.C139T:p.Q47X;	0.979735964239578	0.896
18	9593871	G	C	18	9593873	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon4:c.C139G:p.Q47E;PPP4R1:NM_001042388:exon4:c.C190G:p.Q64E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.C61G:p.Q21E;ENSG00000154845:ENST00000584074:exon4:c.C61G:p.Q21E;ENSG00000154845:ENST00000580745:exon4:c.C61G:p.Q21E;ENSG00000154845:ENST00000400556:exon4:c.C190G:p.Q64E;ENSG00000154845:ENST00000582240:exon4:c.C295G:p.Q99E;ENSG00000154845:ENST00000581835:exon3:c.C61G:p.Q21E;ENSG00000154845:ENST00000580182:exon5:c.C195G:p.D65E;ENSG00000154845:ENST00000400555:exon4:c.C139G:p.Q47E;	0.529806763296956	0.444
18	9593871	G	T	18	9593873	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon4:c.C139A:p.Q47K;PPP4R1:NM_001042388:exon4:c.C190A:p.Q64K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.C61A:p.Q21K;ENSG00000154845:ENST00000584074:exon4:c.C61A:p.Q21K;ENSG00000154845:ENST00000580745:exon4:c.C61A:p.Q21K;ENSG00000154845:ENST00000400556:exon4:c.C190A:p.Q64K;ENSG00000154845:ENST00000582240:exon4:c.C295A:p.Q99K;ENSG00000154845:ENST00000581835:exon3:c.C61A:p.Q21K;ENSG00000154845:ENST00000580182:exon5:c.C195A:p.D65E;ENSG00000154845:ENST00000400555:exon4:c.C139A:p.Q47K;	0.909011240227741	0.634
18	9593872	T	A	18	9593874	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon4:c.A138T:p.R46S;PPP4R1:NM_001042388:exon4:c.A189T:p.R63S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.A60T:p.R20S;ENSG00000154845:ENST00000584074:exon4:c.A60T:p.R20S;ENSG00000154845:ENST00000580745:exon4:c.A60T:p.R20S;ENSG00000154845:ENST00000400556:exon4:c.A189T:p.R63S;ENSG00000154845:ENST00000582240:exon4:c.A294T:p.R98S;ENSG00000154845:ENST00000581835:exon3:c.A60T:p.R20S;ENSG00000154845:ENST00000580182:exon5:c.A194T:p.D65V;ENSG00000154845:ENST00000400555:exon4:c.A138T:p.R46S;	0.0270772822164542	0.192
18	9593872	T	C	18	9593874	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon4:c.A138G:p.R46R;PPP4R1:NM_001042388:exon4:c.A189G:p.R63R;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000580182:exon5:c.A194G:p.D65G;	0.0022549580369057	0.014
18	9593872	T	G	18	9593874	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon4:c.A138C:p.R46S;PPP4R1:NM_001042388:exon4:c.A189C:p.R63S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000581250:exon3:c.A60C:p.R20S;ENSG00000154845:ENST00000584074:exon4:c.A60C:p.R20S;ENSG00000154845:ENST00000580745:exon4:c.A60C:p.R20S;ENSG00000154845:ENST00000400556:exon4:c.A189C:p.R63S;ENSG00000154845:ENST00000582240:exon4:c.A294C:p.R98S;ENSG00000154845:ENST00000581835:exon3:c.A60C:p.R20S;ENSG00000154845:ENST00000580182:exon5:c.A194C:p.D65A;ENSG00000154845:ENST00000400555:exon4:c.A138C:p.R46S;	0.00782397251048294	0.088
18	9593873	C	A	18	9593875	y	y	splicing	PPP4R1(NM_005134:exon5:c.138-1G>T;NM_001042388:exon5:c.189-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.138-1G>T;ENST00000400556:exon5:c.189-1G>T;ENST00000584074:exon5:c.60-1G>T;ENST00000581250:exon4:c.60-1G>T;ENST00000580745:exon5:c.60-1G>T;ENST00000580182:exon6:c.194-1G>T;ENST00000582240:exon5:c.294-1G>T;ENST00000581835:exon4:c.60-1G>T;ENST00000583092:exon6:c.372-1G>T)	.	.	0.999989072007339	0.934
18	9593873	C	G	18	9593875	y	y	splicing	PPP4R1(NM_005134:exon5:c.138-1G>C;NM_001042388:exon5:c.189-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.138-1G>C;ENST00000400556:exon5:c.189-1G>C;ENST00000584074:exon5:c.60-1G>C;ENST00000581250:exon4:c.60-1G>C;ENST00000580745:exon5:c.60-1G>C;ENST00000580182:exon6:c.194-1G>C;ENST00000582240:exon5:c.294-1G>C;ENST00000581835:exon4:c.60-1G>C;ENST00000583092:exon6:c.372-1G>C)	.	.	0.999989072007339	0.932
18	9593873	C	T	18	9593875	y	y	splicing	PPP4R1(NM_005134:exon5:c.138-1G>A;NM_001042388:exon5:c.189-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.138-1G>A;ENST00000400556:exon5:c.189-1G>A;ENST00000584074:exon5:c.60-1G>A;ENST00000581250:exon4:c.60-1G>A;ENST00000580745:exon5:c.60-1G>A;ENST00000580182:exon6:c.194-1G>A;ENST00000582240:exon5:c.294-1G>A;ENST00000581835:exon4:c.60-1G>A;ENST00000583092:exon6:c.372-1G>A)	.	.	0.999989072007339	0.934
18	9593874	T	A	18	9593876	y	y	splicing	PPP4R1(NM_005134:exon5:c.138-2A>T;NM_001042388:exon5:c.189-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.138-2A>T;ENST00000400556:exon5:c.189-2A>T;ENST00000584074:exon5:c.60-2A>T;ENST00000581250:exon4:c.60-2A>T;ENST00000580745:exon5:c.60-2A>T;ENST00000580182:exon6:c.194-2A>T;ENST00000582240:exon5:c.294-2A>T;ENST00000581835:exon4:c.60-2A>T;ENST00000583092:exon6:c.372-2A>T)	.	.	0.999988247793601	0.932
18	9593874	T	C	18	9593876	y	y	splicing	PPP4R1(NM_005134:exon5:c.138-2A>G;NM_001042388:exon5:c.189-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.138-2A>G;ENST00000400556:exon5:c.189-2A>G;ENST00000584074:exon5:c.60-2A>G;ENST00000581250:exon4:c.60-2A>G;ENST00000580745:exon5:c.60-2A>G;ENST00000580182:exon6:c.194-2A>G;ENST00000582240:exon5:c.294-2A>G;ENST00000581835:exon4:c.60-2A>G;ENST00000583092:exon6:c.372-2A>G)	.	.	0.999988247793601	0.93
18	9593874	T	G	18	9593876	y	y	splicing	PPP4R1(NM_005134:exon5:c.138-2A>C;NM_001042388:exon5:c.189-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon5:c.138-2A>C;ENST00000400556:exon5:c.189-2A>C;ENST00000584074:exon5:c.60-2A>C;ENST00000581250:exon4:c.60-2A>C;ENST00000580745:exon5:c.60-2A>C;ENST00000580182:exon6:c.194-2A>C;ENST00000582240:exon5:c.294-2A>C;ENST00000581835:exon4:c.60-2A>C;ENST00000583092:exon6:c.372-2A>C)	.	.	0.999988247793601	0.93
18	9593875	A	C	18	9593877	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.989357621380521	0.658
18	9593875	A	G	18	9593877	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.75919428648134E-5	0.018
18	9593875	A	T	18	9593877	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.052347263784604	0.274
18	9593876	C	A	18	9593878	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.02855200860679E-5	0.0
18	9593876	C	G	18	9593878	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.4169939248883E-5	0.0
18	9593876	C	T	18	9593878	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.56856513857016E-5	0.0
18	9593877	A	C	18	9593879	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.08016535604751E-4	0.148
18	9593877	A	G	18	9593879	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.55366773902959E-5	0.0
18	9593877	A	T	18	9593879	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998503509224928	0.916
18	9593878	C	A	18	9593880	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.45953425163259E-5	0.016
18	9593878	C	G	18	9593880	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.27808133150337E-5	0.0
18	9593878	C	T	18	9593880	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.44670130332128E-5	0.002
18	9593879	A	C	18	9593881	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.35418835314727E-5	0.06
18	9593879	A	G	18	9593881	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.54354647426269E-5	0.19
18	9593879	A	T	18	9593881	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.995922695015555	0.72
18	9593880	A	C	18	9593882	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.08676400604207E-4	0.056
18	9593880	A	G	18	9593882	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.75318780279694E-5	0.01
18	9593880	A	T	18	9593882	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.6110184112705E-4	0.052
18	9593881	A	C	18	9593883	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.94933506305686E-4	0.056
18	9593881	A	G	18	9593883	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.72921408190696E-5	0.01
18	9593881	A	T	18	9593883	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.51749116633543E-4	0.07
18	9593882	A	C	18	9593884	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.78668885461369E-4	0.21
18	9593882	A	G	18	9593884	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.71708416970117E-4	0.002
18	9593882	A	T	18	9593884	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00107857004085839	0.162
18	9593883	A	C	18	9593885	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.13530107640182E-4	0.094
18	9593883	A	G	18	9593885	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.34325564141814E-5	0.028
18	9593883	A	T	18	9593885	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.73372674337586E-4	0.158
18	9593884	A	C	18	9593886	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.14908195003111E-4	0.076
18	9593884	A	G	18	9593886	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.71000446849569E-5	0.002
18	9593884	A	T	18	9593886	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.77484852273636E-4	0.068
18	9594231	A	C	18	9594233	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000580182:exon4:c.T139G:p.Y47D;	1.48367148474546E-5	0.004
18	9594231	A	G	18	9594233	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000580182:exon4:c.T139C:p.Y47H;	3.52173701430229E-5	0.006
18	9594231	A	T	18	9594233	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000580182:exon4:c.T139A:p.Y47N;	3.52173701430229E-5	0.008
18	9594232	T	A	18	9594234	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000580182:exon4:c.A138T:p.R46S;	4.95905533305893E-5	0.0
18	9594232	T	C	18	9594234	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000580182:exon4:c.A138G:p.R46R;	3.52173701430229E-5	0.006
18	9594232	T	G	18	9594234	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000580182:exon4:c.A138C:p.R46S;	4.78674951653264E-5	0.0
18	9594233	C	A	18	9594235	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000580182:exon5:c.138-1G>T)	.	.	1.08788427788342E-5	0.0
18	9594233	C	G	18	9594235	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000580182:exon5:c.138-1G>C)	.	.	1.08788427788342E-5	0.002
18	9594233	C	T	18	9594235	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000580182:exon5:c.138-1G>A)	.	.	1.08788427788342E-5	0.0
18	9594234	T	A	18	9594236	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000580182:exon5:c.138-2A>T)	.	.	7.42544334184685E-5	0.008
18	9594234	T	C	18	9594236	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000580182:exon5:c.138-2A>G)	.	.	1.58927937202005E-5	0.002
18	9594234	T	G	18	9594236	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000580182:exon5:c.138-2A>C)	.	.	1.71486889510802E-5	0.002
18	9594235	A	C	18	9594237	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.60081151915995E-4	0.004
18	9594235	A	G	18	9594237	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.60081151915995E-4	0.004
18	9594235	A	T	18	9594237	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.60081151915995E-4	0.01
18	9594236	G	A	18	9594238	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.41215694109E-6	0.0
18	9594236	G	C	18	9594238	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.41215694109E-6	0.0
18	9594236	G	T	18	9594238	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.41215694109E-6	0.0
18	9594237	A	C	18	9594239	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.27163650926202E-4	0.028
18	9594237	A	G	18	9594239	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.27163650926202E-4	0.028
18	9594237	A	T	18	9594239	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.69884688945688E-4	0.004
18	9594238	A	C	18	9594240	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.75061533442063E-5	0.006
18	9594238	A	G	18	9594240	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.75061533442063E-5	0.006
18	9594238	A	T	18	9594240	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.80476933978685E-5	0.008
18	9594239	T	A	18	9594241	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.0086839819578E-5	0.002
18	9594239	T	C	18	9594241	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.0086839819578E-5	0.004
18	9594239	T	G	18	9594241	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.0086839819578E-5	0.004
18	9594240	T	A	18	9594242	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.57245582126943E-5	0.006
18	9594240	T	C	18	9594242	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.58927937202005E-5	0.002
18	9594240	T	G	18	9594242	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.58927937202005E-5	0.002
18	9594241	T	A	18	9594243	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.51606155421966E-4	0.002
18	9594241	T	C	18	9594243	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.51606155421966E-4	0.002
18	9594241	T	G	18	9594243	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.51606155421966E-4	0.002
18	9594242	T	A	18	9594244	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.5529151830241E-5	0.0
18	9594242	T	C	18	9594244	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.42544334184685E-5	0.01
18	9594242	T	G	18	9594244	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.42544334184685E-5	0.016
18	9594243	A	C	18	9594245	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.25524929795369E-5	0.0
18	9594243	A	G	18	9594245	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.25524929795369E-5	0.0
18	9594243	A	T	18	9594245	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.25524929795369E-5	0.0
18	9594244	A	C	18	9594246	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.14374346167069E-5	0.0
18	9594244	A	G	18	9594246	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.14374346167069E-5	0.0
18	9594244	A	T	18	9594246	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.14374346167069E-5	0.0
18	9595008	G	A	18	9595010	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.6943017130608E-5	0.0
18	9595008	G	C	18	9595010	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.6943017130608E-5	0.0
18	9595008	G	T	18	9595010	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.6943017130608E-5	0.0
18	9595009	C	A	18	9595011	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.89539216800996E-5	0.0
18	9595009	C	G	18	9595011	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.9931617983924E-5	0.0
18	9595009	C	T	18	9595011	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.10642355372565E-5	0.0
18	9595010	A	C	18	9595012	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00169142706419617	0.106
18	9595010	A	G	18	9595012	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0267036791629273	0.186
18	9595010	A	T	18	9595012	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00492368417893187	0.202
18	9595011	C	A	18	9595013	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.964974181044395	0.724
18	9595011	C	G	18	9595013	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.978971741687713	0.73
18	9595011	C	T	18	9595013	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.980667370657879	0.704
18	9595012	A	C	18	9595014	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.98232296162209E-5	0.0
18	9595012	A	G	18	9595014	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.95125027868354E-4	0.018
18	9595012	A	T	18	9595014	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.02454132348984E-5	0.01
18	9595013	T	A	18	9595015	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.881071129953648	0.55
18	9595013	T	C	18	9595015	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.20592115432	0.504
18	9595013	T	G	18	9595015	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.868418406261555	0.592
18	9595014	A	C	18	9595016	y	y	splicing	PPP4R1(NM_005134:exon4:c.137+2T>G;NM_001042388:exon4:c.188+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon4:c.137+2T>G;ENST00000400556:exon4:c.188+2T>G;ENST00000285124:exon4:c.137+2T>G;ENST00000578875:exon4:c.188+2T>G;ENST00000584074:exon4:c.59+2T>G;ENST00000581250:exon3:c.59+2T>G;ENST00000580745:exon4:c.59+2T>G;ENST00000580182:exon4:c.137+2T>G;ENST00000582240:exon4:c.293+2T>G;ENST00000581835:exon3:c.59+2T>G;ENST00000583092:exon5:c.371+2T>G)	.	.	0.999988247793601	0.926
18	9595014	A	G	18	9595016	y	y	splicing	PPP4R1(NM_005134:exon4:c.137+2T>C;NM_001042388:exon4:c.188+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon4:c.137+2T>C;ENST00000400556:exon4:c.188+2T>C;ENST00000285124:exon4:c.137+2T>C;ENST00000578875:exon4:c.188+2T>C;ENST00000584074:exon4:c.59+2T>C;ENST00000581250:exon3:c.59+2T>C;ENST00000580745:exon4:c.59+2T>C;ENST00000580182:exon4:c.137+2T>C;ENST00000582240:exon4:c.293+2T>C;ENST00000581835:exon3:c.59+2T>C;ENST00000583092:exon5:c.371+2T>C)	.	.	0.988163425542712	0.634
18	9595014	A	T	18	9595016	y	y	splicing	PPP4R1(NM_005134:exon4:c.137+2T>A;NM_001042388:exon4:c.188+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon4:c.137+2T>A;ENST00000400556:exon4:c.188+2T>A;ENST00000285124:exon4:c.137+2T>A;ENST00000578875:exon4:c.188+2T>A;ENST00000584074:exon4:c.59+2T>A;ENST00000581250:exon3:c.59+2T>A;ENST00000580745:exon4:c.59+2T>A;ENST00000580182:exon4:c.137+2T>A;ENST00000582240:exon4:c.293+2T>A;ENST00000581835:exon3:c.59+2T>A;ENST00000583092:exon5:c.371+2T>A)	.	.	0.999988247793601	0.876
18	9595015	C	A	18	9595017	y	y	splicing	PPP4R1(NM_005134:exon4:c.137+1G>T;NM_001042388:exon4:c.188+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon4:c.137+1G>T;ENST00000400556:exon4:c.188+1G>T;ENST00000285124:exon4:c.137+1G>T;ENST00000578875:exon4:c.188+1G>T;ENST00000584074:exon4:c.59+1G>T;ENST00000581250:exon3:c.59+1G>T;ENST00000580745:exon4:c.59+1G>T;ENST00000580182:exon4:c.137+1G>T;ENST00000582240:exon4:c.293+1G>T;ENST00000581835:exon3:c.59+1G>T;ENST00000583092:exon5:c.371+1G>T)	.	.	0.999985532734767	0.934
18	9595015	C	G	18	9595017	y	y	splicing	PPP4R1(NM_005134:exon4:c.137+1G>C;NM_001042388:exon4:c.188+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon4:c.137+1G>C;ENST00000400556:exon4:c.188+1G>C;ENST00000285124:exon4:c.137+1G>C;ENST00000578875:exon4:c.188+1G>C;ENST00000584074:exon4:c.59+1G>C;ENST00000581250:exon3:c.59+1G>C;ENST00000580745:exon4:c.59+1G>C;ENST00000580182:exon4:c.137+1G>C;ENST00000582240:exon4:c.293+1G>C;ENST00000581835:exon3:c.59+1G>C;ENST00000583092:exon5:c.371+1G>C)	.	.	0.999985532734767	0.934
18	9595015	C	T	18	9595017	y	y	splicing	PPP4R1(NM_005134:exon4:c.137+1G>A;NM_001042388:exon4:c.188+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon4:c.137+1G>A;ENST00000400556:exon4:c.188+1G>A;ENST00000285124:exon4:c.137+1G>A;ENST00000578875:exon4:c.188+1G>A;ENST00000584074:exon4:c.59+1G>A;ENST00000581250:exon3:c.59+1G>A;ENST00000580745:exon4:c.59+1G>A;ENST00000580182:exon4:c.137+1G>A;ENST00000582240:exon4:c.293+1G>A;ENST00000581835:exon3:c.59+1G>A;ENST00000583092:exon5:c.371+1G>A)	.	.	0.999985532734767	0.934
18	9595016	C	A	18	9595018	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon3:c.G137T:p.R46I;PPP4R1:NM_001042388:exon3:c.G188T:p.R63I;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon3:c.G137T:p.R46I;ENSG00000154845:ENST00000581250:exon2:c.G59T:p.R20I;ENSG00000154845:ENST00000584074:exon3:c.G59T:p.R20I;ENSG00000154845:ENST00000580745:exon3:c.G59T:p.R20I;ENSG00000154845:ENST00000400556:exon3:c.G188T:p.R63I;ENSG00000154845:ENST00000582240:exon3:c.G293T:p.R98I;ENSG00000154845:ENST00000581835:exon2:c.G59T:p.R20I;ENSG00000154845:ENST00000580182:exon3:c.G137T:p.R46I;ENSG00000154845:ENST00000578875:exon3:c.G188T:p.R63I;ENSG00000154845:ENST00000400555:exon3:c.G137T:p.R46I;	0.999942840730895	0.984
18	9595016	C	G	18	9595018	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon3:c.G137C:p.R46T;PPP4R1:NM_001042388:exon3:c.G188C:p.R63T;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon3:c.G137C:p.R46T;ENSG00000154845:ENST00000581250:exon2:c.G59C:p.R20T;ENSG00000154845:ENST00000584074:exon3:c.G59C:p.R20T;ENSG00000154845:ENST00000580745:exon3:c.G59C:p.R20T;ENSG00000154845:ENST00000400556:exon3:c.G188C:p.R63T;ENSG00000154845:ENST00000582240:exon3:c.G293C:p.R98T;ENSG00000154845:ENST00000581835:exon2:c.G59C:p.R20T;ENSG00000154845:ENST00000580182:exon3:c.G137C:p.R46T;ENSG00000154845:ENST00000578875:exon3:c.G188C:p.R63T;ENSG00000154845:ENST00000400555:exon3:c.G137C:p.R46T;	0.999844820171723	0.964
18	9595016	C	T	18	9595018	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon3:c.G137A:p.R46K;PPP4R1:NM_001042388:exon3:c.G188A:p.R63K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon3:c.G137A:p.R46K;ENSG00000154845:ENST00000581250:exon2:c.G59A:p.R20K;ENSG00000154845:ENST00000584074:exon3:c.G59A:p.R20K;ENSG00000154845:ENST00000580745:exon3:c.G59A:p.R20K;ENSG00000154845:ENST00000400556:exon3:c.G188A:p.R63K;ENSG00000154845:ENST00000582240:exon3:c.G293A:p.R98K;ENSG00000154845:ENST00000581835:exon2:c.G59A:p.R20K;ENSG00000154845:ENST00000580182:exon3:c.G137A:p.R46K;ENSG00000154845:ENST00000578875:exon3:c.G188A:p.R63K;ENSG00000154845:ENST00000400555:exon3:c.G137A:p.R46K;	0.999880179657128	0.996
18	9595017	T	A	18	9595019	y	y	exonic	PPP4R1	stopgain SNV	PPP4R1:NM_005134:exon3:c.A136T:p.R46X;PPP4R1:NM_001042388:exon3:c.A187T:p.R63X;	exonic	ENSG00000154845	stopgain SNV	ENSG00000154845:ENST00000285124:exon3:c.A136T:p.R46X;ENSG00000154845:ENST00000581250:exon2:c.A58T:p.R20X;ENSG00000154845:ENST00000584074:exon3:c.A58T:p.R20X;ENSG00000154845:ENST00000580745:exon3:c.A58T:p.R20X;ENSG00000154845:ENST00000400556:exon3:c.A187T:p.R63X;ENSG00000154845:ENST00000582240:exon3:c.A292T:p.R98X;ENSG00000154845:ENST00000581835:exon2:c.A58T:p.R20X;ENSG00000154845:ENST00000580182:exon3:c.A136T:p.R46X;ENSG00000154845:ENST00000578875:exon3:c.A187T:p.R63X;ENSG00000154845:ENST00000400555:exon3:c.A136T:p.R46X;	0.996615313382042	0.906
18	9595017	T	C	18	9595019	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon3:c.A136G:p.R46G;PPP4R1:NM_001042388:exon3:c.A187G:p.R63G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon3:c.A136G:p.R46G;ENSG00000154845:ENST00000581250:exon2:c.A58G:p.R20G;ENSG00000154845:ENST00000584074:exon3:c.A58G:p.R20G;ENSG00000154845:ENST00000580745:exon3:c.A58G:p.R20G;ENSG00000154845:ENST00000400556:exon3:c.A187G:p.R63G;ENSG00000154845:ENST00000582240:exon3:c.A292G:p.R98G;ENSG00000154845:ENST00000581835:exon2:c.A58G:p.R20G;ENSG00000154845:ENST00000580182:exon3:c.A136G:p.R46G;ENSG00000154845:ENST00000578875:exon3:c.A187G:p.R63G;ENSG00000154845:ENST00000400555:exon3:c.A136G:p.R46G;	0.968764320357762	0.846
18	9595017	T	G	18	9595019	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon3:c.A136C:p.R46R;PPP4R1:NM_001042388:exon3:c.A187C:p.R63R;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000285124:exon3:c.A136C:p.R46R;ENSG00000154845:ENST00000581250:exon2:c.A58C:p.R20R;ENSG00000154845:ENST00000584074:exon3:c.A58C:p.R20R;ENSG00000154845:ENST00000580745:exon3:c.A58C:p.R20R;ENSG00000154845:ENST00000400556:exon3:c.A187C:p.R63R;ENSG00000154845:ENST00000582240:exon3:c.A292C:p.R98R;ENSG00000154845:ENST00000581835:exon2:c.A58C:p.R20R;ENSG00000154845:ENST00000580182:exon3:c.A136C:p.R46R;ENSG00000154845:ENST00000578875:exon3:c.A187C:p.R63R;ENSG00000154845:ENST00000400555:exon3:c.A136C:p.R46R;	0.980201854673898	0.936
18	9595018	G	A	18	9595020	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon3:c.C135T:p.N45N;PPP4R1:NM_001042388:exon3:c.C186T:p.N62N;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000285124:exon3:c.C135T:p.N45N;ENSG00000154845:ENST00000581250:exon2:c.C57T:p.N19N;ENSG00000154845:ENST00000584074:exon3:c.C57T:p.N19N;ENSG00000154845:ENST00000580745:exon3:c.C57T:p.N19N;ENSG00000154845:ENST00000400556:exon3:c.C186T:p.N62N;ENSG00000154845:ENST00000582240:exon3:c.C291T:p.N97N;ENSG00000154845:ENST00000581835:exon2:c.C57T:p.N19N;ENSG00000154845:ENST00000580182:exon3:c.C135T:p.N45N;ENSG00000154845:ENST00000578875:exon3:c.C186T:p.N62N;ENSG00000154845:ENST00000400555:exon3:c.C135T:p.N45N;	0.966531732519275	0.756
18	9595018	G	C	18	9595020	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon3:c.C135G:p.N45K;PPP4R1:NM_001042388:exon3:c.C186G:p.N62K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon3:c.C135G:p.N45K;ENSG00000154845:ENST00000581250:exon2:c.C57G:p.N19K;ENSG00000154845:ENST00000584074:exon3:c.C57G:p.N19K;ENSG00000154845:ENST00000580745:exon3:c.C57G:p.N19K;ENSG00000154845:ENST00000400556:exon3:c.C186G:p.N62K;ENSG00000154845:ENST00000582240:exon3:c.C291G:p.N97K;ENSG00000154845:ENST00000581835:exon2:c.C57G:p.N19K;ENSG00000154845:ENST00000580182:exon3:c.C135G:p.N45K;ENSG00000154845:ENST00000578875:exon3:c.C186G:p.N62K;ENSG00000154845:ENST00000400555:exon3:c.C135G:p.N45K;	0.0386719941067274	0.184
18	9595018	G	T	18	9595020	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon3:c.C135A:p.N45K;PPP4R1:NM_001042388:exon3:c.C186A:p.N62K;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000285124:exon3:c.C135A:p.N45K;ENSG00000154845:ENST00000581250:exon2:c.C57A:p.N19K;ENSG00000154845:ENST00000584074:exon3:c.C57A:p.N19K;ENSG00000154845:ENST00000580745:exon3:c.C57A:p.N19K;ENSG00000154845:ENST00000400556:exon3:c.C186A:p.N62K;ENSG00000154845:ENST00000582240:exon3:c.C291A:p.N97K;ENSG00000154845:ENST00000581835:exon2:c.C57A:p.N19K;ENSG00000154845:ENST00000580182:exon3:c.C135A:p.N45K;ENSG00000154845:ENST00000578875:exon3:c.C186A:p.N62K;ENSG00000154845:ENST00000400555:exon3:c.C135A:p.N45K;	0.0756855975748752	0.278
18	9595150	A	C	18	9595152	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_001042388:exon3:c.T54G:p.F18L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon3:c.T54G:p.F18L;ENSG00000154845:ENST00000578875:exon3:c.T54G:p.F18L;	0.0713189999564085	0.228
18	9595150	A	G	18	9595152	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_001042388:exon3:c.T54C:p.F18F;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000400556:exon3:c.T54C:p.F18F;ENSG00000154845:ENST00000578875:exon3:c.T54C:p.F18F;	0.0489462596925329	0.176
18	9595150	A	T	18	9595152	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_001042388:exon3:c.T54A:p.F18L;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon3:c.T54A:p.F18L;ENSG00000154845:ENST00000578875:exon3:c.T54A:p.F18L;	0.241539972158824	0.37
18	9595151	A	C	18	9595153	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_001042388:exon3:c.T53G:p.F18C;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon3:c.T53G:p.F18C;ENSG00000154845:ENST00000578875:exon3:c.T53G:p.F18C;	0.00139340851462804	0.102
18	9595151	A	G	18	9595153	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_001042388:exon3:c.T53C:p.F18S;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon3:c.T53C:p.F18S;ENSG00000154845:ENST00000578875:exon3:c.T53C:p.F18S;	2.6404627254554E-4	0.014
18	9595151	A	T	18	9595153	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_001042388:exon3:c.T53A:p.F18Y;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000400556:exon3:c.T53A:p.F18Y;ENSG00000154845:ENST00000578875:exon3:c.T53A:p.F18Y;	4.63124399643974E-4	0.04
18	9595152	C	A	18	9595154	y	y	splicing	PPP4R1(NM_001042388:exon4:c.53-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400556:exon4:c.53-1G>T;ENST00000578875:exon4:c.53-1G>T)	.	.	0.999986675681007	0.948
18	9595152	C	G	18	9595154	y	y	splicing	PPP4R1(NM_001042388:exon4:c.53-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400556:exon4:c.53-1G>C;ENST00000578875:exon4:c.53-1G>C)	.	.	0.999986675681007	0.948
18	9595152	C	T	18	9595154	y	y	splicing	PPP4R1(NM_001042388:exon4:c.53-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400556:exon4:c.53-1G>A;ENST00000578875:exon4:c.53-1G>A)	.	.	0.999986675681007	0.948
18	9595153	T	A	18	9595155	y	y	splicing	PPP4R1(NM_001042388:exon4:c.53-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400556:exon4:c.53-2A>T;ENST00000578875:exon4:c.53-2A>T)	.	.	0.999988247793601	0.944
18	9595153	T	C	18	9595155	y	y	splicing	PPP4R1(NM_001042388:exon4:c.53-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400556:exon4:c.53-2A>G;ENST00000578875:exon4:c.53-2A>G)	.	.	0.999988247793601	0.944
18	9595153	T	G	18	9595155	y	y	splicing	PPP4R1(NM_001042388:exon4:c.53-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400556:exon4:c.53-2A>C;ENST00000578875:exon4:c.53-2A>C)	.	.	0.999988247793601	0.944
18	9595154	A	C	18	9595156	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998934336865504	0.89
18	9595154	A	G	18	9595156	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0143876792465124	0.178
18	9595154	A	T	18	9595156	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.937666239332458	0.736
18	9595155	T	A	18	9595157	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.10585146387052E-4	0.054
18	9595155	T	C	18	9595157	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00270009016772332	0.294
18	9595155	T	G	18	9595157	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.92905832038444E-4	0.186
18	9595156	C	A	18	9595158	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00109958807689576	0.082
18	9595156	C	G	18	9595158	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.89807690684038E-4	0.016
18	9595156	C	T	18	9595158	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00505999394525035	0.06
18	9595157	A	C	18	9595159	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.994163633316875	0.846
18	9595157	A	G	18	9595159	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00570486532790131	0.3
18	9595157	A	T	18	9595159	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999955508007112	0.952
18	9595158	G	A	18	9595160	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.230763759689086	0.272
18	9595158	G	C	18	9595160	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.901846200186732	0.624
18	9595158	G	T	18	9595160	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.928472851729509	0.624
18	9595159	A	C	18	9595161	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.96961179364426	0.838
18	9595159	A	G	18	9595161	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0274660736932332	0.264
18	9595159	A	T	18	9595161	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.978232649080792	0.858
18	9595160	G	A	18	9595162	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00731682018525221	0.05
18	9595160	G	C	18	9595162	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.334287020988328	0.308
18	9595160	G	T	18	9595162	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.523246799493209	0.528
18	9595161	A	C	18	9595163	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.997833536041352	0.936
18	9595161	A	G	18	9595163	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.182057799274786	0.41
18	9595161	A	T	18	9595163	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.9971218585821	0.906
18	9595162	C	A	18	9595164	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.66168898402294E-5	0.016
18	9595162	C	G	18	9595164	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.40340569307259E-5	0.002
18	9595162	C	T	18	9595164	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.53728976936019E-4	0.076
18	9595163	A	C	18	9595165	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99996810392851	0.982
18	9595163	A	G	18	9595165	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.187490500414831	0.342
18	9595163	A	T	18	9595165	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99996810392851	0.982
18	9612447	C	A	18	9612449	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.78864525412067E-5	0.0
18	9612447	C	G	18	9612449	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.45277156108894E-5	0.0
18	9612447	C	T	18	9612449	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.78864525412067E-5	0.0
18	9612448	C	A	18	9612450	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.14850402615726E-5	0.006
18	9612448	C	G	18	9612450	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.14850402615726E-5	0.008
18	9612448	C	T	18	9612450	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.14850402615726E-5	0.008
18	9612449	C	A	18	9612451	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.68219155180855E-5	0.002
18	9612449	C	G	18	9612451	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.68219155180855E-5	0.002
18	9612449	C	T	18	9612451	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.68219155180855E-5	0.002
18	9612450	A	C	18	9612452	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.20034981273023E-4	0.014
18	9612450	A	G	18	9612452	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.20034981273023E-4	0.01
18	9612450	A	T	18	9612452	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.18154394036611E-4	0.008
18	9612451	G	A	18	9612453	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.0180149904064E-5	0.006
18	9612451	G	C	18	9612453	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.27145488438373E-5	0.004
18	9612451	G	T	18	9612453	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.0180149904064E-5	0.006
18	9612452	T	A	18	9612454	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.54304584892783E-6	0.0
18	9612452	T	C	18	9612454	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.54304584892783E-6	0.002
18	9612452	T	G	18	9612454	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.54304584892783E-6	0.002
18	9612453	A	C	18	9612455	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.286+2T>G)	.	.	7.42544334184685E-5	0.006
18	9612453	A	G	18	9612455	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.286+2T>C)	.	.	7.42544334184685E-5	0.006
18	9612453	A	T	18	9612455	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.286+2T>A)	.	.	7.42544334184685E-5	0.056
18	9612454	C	A	18	9612456	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.286+1G>T)	.	.	0.00104620212631682	0.02
18	9612454	C	G	18	9612456	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.286+1G>C)	.	.	0.00104620212631682	0.02
18	9612454	C	T	18	9612456	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.286+1G>A)	.	.	0.00139163683337926	0.02
18	9612455	C	A	18	9612457	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	1.46004206284423E-5	0.002
18	9612455	C	G	18	9612457	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	1.46004206284423E-5	0.002
18	9612455	C	T	18	9612457	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	1.46004206284423E-5	0.002
18	9612456	T	A	18	9612458	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	1.42005417025298E-5	0.002
18	9612456	T	C	18	9612458	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	1.42005417025298E-5	0.002
18	9612456	T	G	18	9612458	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	1.42005417025298E-5	0.002
18	9612457	G	A	18	9612459	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	5.28102787469058E-5	0.0
18	9612457	G	C	18	9612459	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	7.06187793851108E-5	0.006
18	9612457	G	T	18	9612459	n	y	intronic	PPP4R1	.	.	UTR3	ENSG00000154845	.	.	7.06187793851108E-5	0.018
18	9612687	T	A	18	9612689	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	stoploss SNV	ENSG00000154845:ENST00000583092:exon3:c.A54T:p.X18C;	5.62395669538047E-5	0.108
18	9612687	T	C	18	9612689	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	stoploss SNV	ENSG00000154845:ENST00000583092:exon3:c.A54G:p.X18W;	5.62395669538047E-5	0.072
18	9612687	T	G	18	9612689	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	stoploss SNV	ENSG00000154845:ENST00000583092:exon3:c.A54C:p.X18C;	5.62395669538047E-5	0.072
18	9612688	C	A	18	9612690	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	stoploss SNV	ENSG00000154845:ENST00000583092:exon3:c.G53T:p.X18L;	2.45892698382496E-5	0.0
18	9612688	C	G	18	9612690	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	stoploss SNV	ENSG00000154845:ENST00000583092:exon3:c.G53C:p.X18S;	2.45892698382496E-5	0.028
18	9612688	C	T	18	9612690	n	y	intronic	PPP4R1	.	.	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000583092:exon3:c.G53A:p.X18X;	7.27456659313109E-5	0.0
18	9612689	C	A	18	9612691	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.53-1G>T)	.	.	4.87698428322107E-5	0.008
18	9612689	C	G	18	9612691	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.53-1G>C)	.	.	4.87698428322107E-5	0.012
18	9612689	C	T	18	9612691	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.53-1G>A)	.	.	4.87698428322107E-5	0.008
18	9612690	T	A	18	9612692	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.53-2A>T)	.	.	2.6128894829304E-5	0.0
18	9612690	T	C	18	9612692	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.53-2A>G)	.	.	2.6128894829304E-5	0.002
18	9612690	T	G	18	9612692	n	y	intronic	PPP4R1	.	.	splicing	ENSG00000154845(ENST00000583092:exon4:c.53-2A>C)	.	.	2.6128894829304E-5	0.002
18	9612691	A	C	18	9612693	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00120468912899541	0.01
18	9612691	A	G	18	9612693	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00120468912899541	0.01
18	9612691	A	T	18	9612693	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00120468912899541	0.01
18	9612692	A	C	18	9612694	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.21157661017734E-5	0.052
18	9612692	A	G	18	9612694	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.21157661017734E-5	0.052
18	9612692	A	T	18	9612694	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.95838220417025E-5	0.05
18	9612693	C	A	18	9612695	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.92862067755932E-4	0.018
18	9612693	C	G	18	9612695	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.04509319891887E-4	0.018
18	9612693	C	T	18	9612695	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	7.28645335120767E-4	0.018
18	9612694	C	A	18	9612696	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.47039489069415E-5	0.0
18	9612694	C	G	18	9612696	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.14301101535901E-5	0.0
18	9612694	C	T	18	9612696	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.47039489069415E-5	0.004
18	9612695	T	A	18	9612697	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.89925739660516E-5	0.006
18	9612695	T	C	18	9612697	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.89925739660516E-5	0.004
18	9612695	T	G	18	9612697	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	6.89925739660516E-5	0.004
18	9612696	G	A	18	9612698	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.6128894829304E-5	0.004
18	9612696	G	C	18	9612698	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	3.49403053016175E-5	0.008
18	9612696	G	T	18	9612698	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.6128894829304E-5	0.014
18	9612697	G	A	18	9612699	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.81562738340012E-4	0.002
18	9612697	G	C	18	9612699	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.81562738340012E-4	0.002
18	9612697	G	T	18	9612699	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.81562738340012E-4	0.002
18	9612698	C	A	18	9612700	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.15941453541388E-5	0.004
18	9612698	C	G	18	9612700	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.15941453541388E-5	0.014
18	9612698	C	T	18	9612700	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.15941453541388E-5	0.004
18	9612699	A	C	18	9612701	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.63734018024452E-5	0.01
18	9612699	A	G	18	9612701	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	9.63734018024452E-5	0.012
18	9612699	A	T	18	9612701	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.30245828806351E-5	0.01
18	9612700	A	C	18	9612702	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.50687661477519E-4	0.016
18	9612700	A	G	18	9612702	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	4.50687661477519E-4	0.016
18	9612700	A	T	18	9612702	n	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.24382624103386E-4	0.016
18	9614216	C	A	18	9614218	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	5.81582809645893E-4	0.022
18	9614216	C	G	18	9614218	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.44782879808027E-4	0.0
18	9614216	C	T	18	9614218	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.92644644963145E-4	0.0
18	9614217	C	A	18	9614219	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0061763344255679	0.022
18	9614217	C	G	18	9614219	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00233813335041982	0.006
18	9614217	C	T	18	9614219	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00374694942299494	0.016
18	9614218	A	C	18	9614220	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.988353322503244	0.822
18	9614218	A	G	18	9614220	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.992786081681496	0.842
18	9614218	A	T	18	9614220	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99589209976243	0.812
18	9614219	C	A	18	9614221	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999985562488051	0.96
18	9614219	C	G	18	9614221	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999943735434746	0.874
18	9614219	C	T	18	9614221	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999990597817933	0.996
18	9614220	T	A	18	9614222	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.99911024293017	0.932
18	9614220	T	C	18	9614222	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999322377008933	0.94
18	9614220	T	G	18	9614222	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.996586051895944	0.904
18	9614221	C	A	18	9614223	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999687941041957	0.892
18	9614221	C	G	18	9614223	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.999692323248837	0.89
18	9614221	C	T	18	9614223	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00176564219855635	0.036
18	9614222	A	C	18	9614224	y	y	splicing	PPP4R1(NM_005134:exon3:c.52+2T>G;NM_001042388:exon3:c.52+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.52+2T>G;ENST00000400556:exon3:c.52+2T>G;ENST00000285124:exon3:c.52+2T>G;ENST00000578875:exon3:c.52+2T>G;ENST00000580182:exon3:c.52+2T>G;ENST00000582240:exon3:c.208+2T>G;ENST00000583092:exon3:c.52+2T>G)	.	.	0.999989692343854	0.918
18	9614222	A	G	18	9614224	y	y	splicing	PPP4R1(NM_005134:exon3:c.52+2T>C;NM_001042388:exon3:c.52+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.52+2T>C;ENST00000400556:exon3:c.52+2T>C;ENST00000285124:exon3:c.52+2T>C;ENST00000578875:exon3:c.52+2T>C;ENST00000580182:exon3:c.52+2T>C;ENST00000582240:exon3:c.208+2T>C;ENST00000583092:exon3:c.52+2T>C)	.	.	0.99997320422758	0.836
18	9614222	A	T	18	9614224	y	y	splicing	PPP4R1(NM_005134:exon3:c.52+2T>A;NM_001042388:exon3:c.52+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.52+2T>A;ENST00000400556:exon3:c.52+2T>A;ENST00000285124:exon3:c.52+2T>A;ENST00000578875:exon3:c.52+2T>A;ENST00000580182:exon3:c.52+2T>A;ENST00000582240:exon3:c.208+2T>A;ENST00000583092:exon3:c.52+2T>A)	.	.	0.999989692343854	0.918
18	9614223	C	A	18	9614225	y	y	splicing	PPP4R1(NM_005134:exon3:c.52+1G>T;NM_001042388:exon3:c.52+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.52+1G>T;ENST00000400556:exon3:c.52+1G>T;ENST00000285124:exon3:c.52+1G>T;ENST00000578875:exon3:c.52+1G>T;ENST00000580182:exon3:c.52+1G>T;ENST00000582240:exon3:c.208+1G>T;ENST00000583092:exon3:c.52+1G>T)	.	.	0.999991790889593	0.914
18	9614223	C	G	18	9614225	y	y	splicing	PPP4R1(NM_005134:exon3:c.52+1G>C;NM_001042388:exon3:c.52+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.52+1G>C;ENST00000400556:exon3:c.52+1G>C;ENST00000285124:exon3:c.52+1G>C;ENST00000578875:exon3:c.52+1G>C;ENST00000580182:exon3:c.52+1G>C;ENST00000582240:exon3:c.208+1G>C;ENST00000583092:exon3:c.52+1G>C)	.	.	0.999991790889593	0.914
18	9614223	C	T	18	9614225	y	y	splicing	PPP4R1(NM_005134:exon3:c.52+1G>A;NM_001042388:exon3:c.52+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.52+1G>A;ENST00000400556:exon3:c.52+1G>A;ENST00000285124:exon3:c.52+1G>A;ENST00000578875:exon3:c.52+1G>A;ENST00000580182:exon3:c.52+1G>A;ENST00000582240:exon3:c.208+1G>A;ENST00000583092:exon3:c.52+1G>A)	.	.	0.999991790889593	0.914
18	9614224	A	C	18	9614226	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.T52G:p.S18A;PPP4R1:NM_001042388:exon2:c.T52G:p.F18V;	exonic	ENSG00000154845	stoploss SNV	ENSG00000154845:ENST00000583092:exon2:c.T52G:p.X18G;	6.95434416516565E-4	0.072
18	9614224	A	G	18	9614226	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.T52C:p.S18P;PPP4R1:NM_001042388:exon2:c.T52C:p.F18L;	exonic	ENSG00000154845	stoploss SNV	ENSG00000154845:ENST00000583092:exon2:c.T52C:p.X18R;	8.49874423504936E-4	0.266
18	9614224	A	T	18	9614226	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.T52A:p.S18T;PPP4R1:NM_001042388:exon2:c.T52A:p.F18I;	exonic	ENSG00000154845	stoploss SNV	ENSG00000154845:ENST00000583092:exon2:c.T52A:p.X18R;	7.91424053832729E-5	0.016
18	9614225	T	A	18	9614227	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon2:c.A51T:p.G17G;PPP4R1:NM_001042388:exon2:c.A51T:p.G17G;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.A51T:p.G17G;ENSG00000154845:ENST00000285124:exon2:c.A51T:p.G17G;ENSG00000154845:ENST00000400556:exon2:c.A51T:p.G17G;ENSG00000154845:ENST00000582240:exon2:c.A207T:p.G69G;ENSG00000154845:ENST00000580182:exon2:c.A51T:p.G17G;ENSG00000154845:ENST00000578875:exon2:c.A51T:p.G17G;ENSG00000154845:ENST00000400555:exon2:c.A51T:p.G17G;	0.986237239195667	0.838
18	9614225	T	C	18	9614227	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon2:c.A51G:p.G17G;PPP4R1:NM_001042388:exon2:c.A51G:p.G17G;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.A51G:p.G17G;ENSG00000154845:ENST00000285124:exon2:c.A51G:p.G17G;ENSG00000154845:ENST00000400556:exon2:c.A51G:p.G17G;ENSG00000154845:ENST00000582240:exon2:c.A207G:p.G69G;ENSG00000154845:ENST00000580182:exon2:c.A51G:p.G17G;ENSG00000154845:ENST00000578875:exon2:c.A51G:p.G17G;ENSG00000154845:ENST00000400555:exon2:c.A51G:p.G17G;	0.994700905270126	0.872
18	9614225	T	G	18	9614227	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon2:c.A51C:p.G17G;PPP4R1:NM_001042388:exon2:c.A51C:p.G17G;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.A51C:p.G17G;ENSG00000154845:ENST00000285124:exon2:c.A51C:p.G17G;ENSG00000154845:ENST00000400556:exon2:c.A51C:p.G17G;ENSG00000154845:ENST00000582240:exon2:c.A207C:p.G69G;ENSG00000154845:ENST00000580182:exon2:c.A51C:p.G17G;ENSG00000154845:ENST00000578875:exon2:c.A51C:p.G17G;ENSG00000154845:ENST00000400555:exon2:c.A51C:p.G17G;	0.976555959383049	0.852
18	9614226	C	A	18	9614228	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.G50T:p.G17V;PPP4R1:NM_001042388:exon2:c.G50T:p.G17V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.G50T:p.G17V;ENSG00000154845:ENST00000285124:exon2:c.G50T:p.G17V;ENSG00000154845:ENST00000400556:exon2:c.G50T:p.G17V;ENSG00000154845:ENST00000582240:exon2:c.G206T:p.G69V;ENSG00000154845:ENST00000580182:exon2:c.G50T:p.G17V;ENSG00000154845:ENST00000578875:exon2:c.G50T:p.G17V;ENSG00000154845:ENST00000400555:exon2:c.G50T:p.G17V;	0.106059648020333	0.18
18	9614226	C	G	18	9614228	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.G50C:p.G17A;PPP4R1:NM_001042388:exon2:c.G50C:p.G17A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.G50C:p.G17A;ENSG00000154845:ENST00000285124:exon2:c.G50C:p.G17A;ENSG00000154845:ENST00000400556:exon2:c.G50C:p.G17A;ENSG00000154845:ENST00000582240:exon2:c.G206C:p.G69A;ENSG00000154845:ENST00000580182:exon2:c.G50C:p.G17A;ENSG00000154845:ENST00000578875:exon2:c.G50C:p.G17A;ENSG00000154845:ENST00000400555:exon2:c.G50C:p.G17A;	0.00162090152867429	0.018
18	9614226	C	T	18	9614228	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.G50A:p.G17E;PPP4R1:NM_001042388:exon2:c.G50A:p.G17E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.G50A:p.G17E;ENSG00000154845:ENST00000285124:exon2:c.G50A:p.G17E;ENSG00000154845:ENST00000400556:exon2:c.G50A:p.G17E;ENSG00000154845:ENST00000582240:exon2:c.G206A:p.G69E;ENSG00000154845:ENST00000580182:exon2:c.G50A:p.G17E;ENSG00000154845:ENST00000578875:exon2:c.G50A:p.G17E;ENSG00000154845:ENST00000400555:exon2:c.G50A:p.G17E;	0.00316981838296575	0.042
18	9614267	G	A	18	9614269	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon2:c.C9T:p.D3D;PPP4R1:NM_001042388:exon2:c.C9T:p.D3D;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.C9T:p.D3D;ENSG00000154845:ENST00000285124:exon2:c.C9T:p.D3D;ENSG00000154845:ENST00000400556:exon2:c.C9T:p.D3D;ENSG00000154845:ENST00000582240:exon2:c.C165T:p.H55H;ENSG00000154845:ENST00000580182:exon2:c.C9T:p.D3D;ENSG00000154845:ENST00000578875:exon2:c.C9T:p.D3D;ENSG00000154845:ENST00000400555:exon2:c.C9T:p.D3D;	6.25940327770232E-5	0.046
18	9614267	G	C	18	9614269	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.C9G:p.D3E;PPP4R1:NM_001042388:exon2:c.C9G:p.D3E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.C9G:p.D3E;ENSG00000154845:ENST00000285124:exon2:c.C9G:p.D3E;ENSG00000154845:ENST00000400556:exon2:c.C9G:p.D3E;ENSG00000154845:ENST00000582240:exon2:c.C165G:p.H55Q;ENSG00000154845:ENST00000580182:exon2:c.C9G:p.D3E;ENSG00000154845:ENST00000578875:exon2:c.C9G:p.D3E;ENSG00000154845:ENST00000400555:exon2:c.C9G:p.D3E;	1.40431858919991E-4	0.086
18	9614267	G	T	18	9614269	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.C9A:p.D3E;PPP4R1:NM_001042388:exon2:c.C9A:p.D3E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.C9A:p.D3E;ENSG00000154845:ENST00000285124:exon2:c.C9A:p.D3E;ENSG00000154845:ENST00000400556:exon2:c.C9A:p.D3E;ENSG00000154845:ENST00000582240:exon2:c.C165A:p.H55Q;ENSG00000154845:ENST00000580182:exon2:c.C9A:p.D3E;ENSG00000154845:ENST00000578875:exon2:c.C9A:p.D3E;ENSG00000154845:ENST00000400555:exon2:c.C9A:p.D3E;	3.29361293719379E-4	0.016
18	9614268	T	A	18	9614270	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.A8T:p.D3V;PPP4R1:NM_001042388:exon2:c.A8T:p.D3V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.A8T:p.D3V;ENSG00000154845:ENST00000285124:exon2:c.A8T:p.D3V;ENSG00000154845:ENST00000400556:exon2:c.A8T:p.D3V;ENSG00000154845:ENST00000582240:exon2:c.A164T:p.H55L;ENSG00000154845:ENST00000580182:exon2:c.A8T:p.D3V;ENSG00000154845:ENST00000578875:exon2:c.A8T:p.D3V;ENSG00000154845:ENST00000400555:exon2:c.A8T:p.D3V;	0.00945370534517796	0.114
18	9614268	T	C	18	9614270	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.A8G:p.D3G;PPP4R1:NM_001042388:exon2:c.A8G:p.D3G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.A8G:p.D3G;ENSG00000154845:ENST00000285124:exon2:c.A8G:p.D3G;ENSG00000154845:ENST00000400556:exon2:c.A8G:p.D3G;ENSG00000154845:ENST00000582240:exon2:c.A164G:p.H55R;ENSG00000154845:ENST00000580182:exon2:c.A8G:p.D3G;ENSG00000154845:ENST00000578875:exon2:c.A8G:p.D3G;ENSG00000154845:ENST00000400555:exon2:c.A8G:p.D3G;	8.701794421322E-4	0.01
18	9614268	T	G	18	9614270	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon2:c.A8C:p.D3A;PPP4R1:NM_001042388:exon2:c.A8C:p.D3A;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon2:c.A8C:p.D3A;ENSG00000154845:ENST00000285124:exon2:c.A8C:p.D3A;ENSG00000154845:ENST00000400556:exon2:c.A8C:p.D3A;ENSG00000154845:ENST00000582240:exon2:c.A164C:p.H55P;ENSG00000154845:ENST00000580182:exon2:c.A8C:p.D3A;ENSG00000154845:ENST00000578875:exon2:c.A8C:p.D3A;ENSG00000154845:ENST00000400555:exon2:c.A8C:p.D3A;	0.00705149636536413	0.116
18	9614269	C	A	18	9614271	y	y	splicing	PPP4R1(NM_005134:exon3:c.8-1G>T;NM_001042388:exon3:c.8-1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.8-1G>T;ENST00000400556:exon3:c.8-1G>T;ENST00000285124:exon3:c.8-1G>T;ENST00000578875:exon3:c.8-1G>T;ENST00000580182:exon3:c.8-1G>T;ENST00000582240:exon3:c.164-1G>T;ENST00000583092:exon3:c.8-1G>T)	.	.	0.999991790889593	0.942
18	9614269	C	G	18	9614271	y	y	splicing	PPP4R1(NM_005134:exon3:c.8-1G>C;NM_001042388:exon3:c.8-1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.8-1G>C;ENST00000400556:exon3:c.8-1G>C;ENST00000285124:exon3:c.8-1G>C;ENST00000578875:exon3:c.8-1G>C;ENST00000580182:exon3:c.8-1G>C;ENST00000582240:exon3:c.164-1G>C;ENST00000583092:exon3:c.8-1G>C)	.	.	0.999991790889593	0.942
18	9614269	C	T	18	9614271	y	y	splicing	PPP4R1(NM_005134:exon3:c.8-1G>A;NM_001042388:exon3:c.8-1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.8-1G>A;ENST00000400556:exon3:c.8-1G>A;ENST00000285124:exon3:c.8-1G>A;ENST00000578875:exon3:c.8-1G>A;ENST00000580182:exon3:c.8-1G>A;ENST00000582240:exon3:c.164-1G>A;ENST00000583092:exon3:c.8-1G>A)	.	.	0.999991790889593	0.942
18	9614270	T	A	18	9614272	y	y	splicing	PPP4R1(NM_005134:exon3:c.8-2A>T;NM_001042388:exon3:c.8-2A>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.8-2A>T;ENST00000400556:exon3:c.8-2A>T;ENST00000285124:exon3:c.8-2A>T;ENST00000578875:exon3:c.8-2A>T;ENST00000580182:exon3:c.8-2A>T;ENST00000582240:exon3:c.164-2A>T;ENST00000583092:exon3:c.8-2A>T)	.	.	0.999989692343854	0.936
18	9614270	T	C	18	9614272	y	y	splicing	PPP4R1(NM_005134:exon3:c.8-2A>G;NM_001042388:exon3:c.8-2A>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.8-2A>G;ENST00000400556:exon3:c.8-2A>G;ENST00000285124:exon3:c.8-2A>G;ENST00000578875:exon3:c.8-2A>G;ENST00000580182:exon3:c.8-2A>G;ENST00000582240:exon3:c.164-2A>G;ENST00000583092:exon3:c.8-2A>G)	.	.	0.999989692343854	0.938
18	9614270	T	G	18	9614272	y	y	splicing	PPP4R1(NM_005134:exon3:c.8-2A>C;NM_001042388:exon3:c.8-2A>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon3:c.8-2A>C;ENST00000400556:exon3:c.8-2A>C;ENST00000285124:exon3:c.8-2A>C;ENST00000578875:exon3:c.8-2A>C;ENST00000580182:exon3:c.8-2A>C;ENST00000582240:exon3:c.164-2A>C;ENST00000583092:exon3:c.8-2A>C)	.	.	0.999989692343854	0.938
18	9614271	G	A	18	9614273	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.884889993036228	0.452
18	9614271	G	C	18	9614273	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.999922936053957	0.988
18	9614271	G	T	18	9614273	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.999433081349566	0.958
18	9614272	C	A	18	9614274	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.20202987582624	0.256
18	9614272	C	G	18	9614274	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.0926339809121417	0.188
18	9614272	C	T	18	9614274	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.141184376305924	0.308
18	9614273	G	A	18	9614275	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.019577447995483	0.222
18	9614273	G	C	18	9614275	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.546468290144687	0.344
18	9614273	G	T	18	9614275	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.999841365736372	0.896
18	9614274	C	A	18	9614276	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.00270509610868523	0.046
18	9614274	C	G	18	9614276	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.00790527299750244	0.054
18	9614274	C	T	18	9614276	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.00416406160611255	0.092
18	9614275	C	A	18	9614277	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	2.73823271165502E-5	0.006
18	9614275	C	G	18	9614277	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	4.95462397566502E-5	0.014
18	9614275	C	T	18	9614277	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.97118991648811	0.926
18	9614276	G	A	18	9614278	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	5.49480290156352E-4	0.016
18	9614276	G	C	18	9614278	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.0183790305272092	0.098
18	9614276	G	T	18	9614278	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.99994250156423	0.968
18	9614277	A	C	18	9614279	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.118809669707707	0.396
18	9614277	A	G	18	9614279	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	4.77032223123935E-4	0.052
18	9614277	A	T	18	9614279	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.156841129387433	0.44
18	9614278	G	A	18	9614280	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	5.82115603612096E-5	0.0
18	9614278	G	C	18	9614280	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.0032252432075347	0.042
18	9614278	G	T	18	9614280	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.00155710635008558	0.032
18	9614279	G	A	18	9614281	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	8.70098716259766E-5	0.0
18	9614279	G	C	18	9614281	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.0021685313998618	0.066
18	9614279	G	T	18	9614281	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	0.00109780781495324	0.058
18	9614280	G	A	18	9614282	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	1.44146913300045E-5	0.0
18	9614280	G	C	18	9614282	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	4.2876838550107E-4	0.034
18	9614280	G	T	18	9614282	y	y	intronic	PPP4R1	.	.	UTR5	ENSG00000154845	.	.	3.62707332820006E-4	0.02
18	9614468	C	A	18	9614470	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.02635119059054E-4	0.0
18	9614468	C	G	18	9614470	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.6220859754917E-4	0.0
18	9614468	C	T	18	9614470	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.02635119059054E-4	0.002
18	9614469	C	A	18	9614471	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0089272421469542	0.018
18	9614469	C	G	18	9614471	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0105834899437684	0.026
18	9614469	C	T	18	9614471	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.00958273119598286	0.026
18	9614470	A	C	18	9614472	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.114609700861939	0.266
18	9614470	A	G	18	9614472	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.0859448588592836	0.356
18	9614470	A	T	18	9614472	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.100550657070054	0.394
18	9614471	C	A	18	9614473	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998451682703346	0.868
18	9614471	C	G	18	9614473	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.994739187939379	0.92
18	9614471	C	T	18	9614473	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998840150836184	0.906
18	9614472	G	A	18	9614474	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	8.73608587137538E-4	0.116
18	9614472	G	C	18	9614474	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	1.19092218234071E-4	0.124
18	9614472	G	T	18	9614474	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	2.86787964983102E-5	0.01
18	9614473	T	A	18	9614475	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.998625602255664	0.92
18	9614473	T	C	18	9614475	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.839373718150544	0.528
18	9614473	T	G	18	9614475	y	y	intronic	PPP4R1	.	.	intronic	ENSG00000154845	.	.	0.9990859266203	0.902
18	9614474	A	C	18	9614476	y	y	splicing	PPP4R1(NM_005134:exon2:c.7+2T>G;NM_001042388:exon2:c.7+2T>G)	.	.	splicing	ENSG00000154845(ENST00000400555:exon2:c.7+2T>G;ENST00000400556:exon2:c.7+2T>G;ENST00000285124:exon2:c.7+2T>G;ENST00000578875:exon2:c.7+2T>G;ENST00000580182:exon2:c.7+2T>G;ENST00000583092:exon2:c.7+2T>G)	.	.	0.999984811883222	0.918
18	9614474	A	G	18	9614476	y	y	splicing	PPP4R1(NM_005134:exon2:c.7+2T>C;NM_001042388:exon2:c.7+2T>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon2:c.7+2T>C;ENST00000400556:exon2:c.7+2T>C;ENST00000285124:exon2:c.7+2T>C;ENST00000578875:exon2:c.7+2T>C;ENST00000580182:exon2:c.7+2T>C;ENST00000583092:exon2:c.7+2T>C)	.	.	0.988141823571798	0.548
18	9614474	A	T	18	9614476	y	y	splicing	PPP4R1(NM_005134:exon2:c.7+2T>A;NM_001042388:exon2:c.7+2T>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon2:c.7+2T>A;ENST00000400556:exon2:c.7+2T>A;ENST00000285124:exon2:c.7+2T>A;ENST00000578875:exon2:c.7+2T>A;ENST00000580182:exon2:c.7+2T>A;ENST00000583092:exon2:c.7+2T>A)	.	.	0.999988307841649	0.916
18	9614475	C	A	18	9614477	y	y	splicing	PPP4R1(NM_005134:exon2:c.7+1G>T;NM_001042388:exon2:c.7+1G>T)	.	.	splicing	ENSG00000154845(ENST00000400555:exon2:c.7+1G>T;ENST00000400556:exon2:c.7+1G>T;ENST00000285124:exon2:c.7+1G>T;ENST00000578875:exon2:c.7+1G>T;ENST00000580182:exon2:c.7+1G>T;ENST00000583092:exon2:c.7+1G>T)	.	.	0.999983962310335	0.926
18	9614475	C	G	18	9614477	y	y	splicing	PPP4R1(NM_005134:exon2:c.7+1G>C;NM_001042388:exon2:c.7+1G>C)	.	.	splicing	ENSG00000154845(ENST00000400555:exon2:c.7+1G>C;ENST00000400556:exon2:c.7+1G>C;ENST00000285124:exon2:c.7+1G>C;ENST00000578875:exon2:c.7+1G>C;ENST00000580182:exon2:c.7+1G>C;ENST00000583092:exon2:c.7+1G>C)	.	.	0.999979167063969	0.928
18	9614475	C	T	18	9614477	y	y	splicing	PPP4R1(NM_005134:exon2:c.7+1G>A;NM_001042388:exon2:c.7+1G>A)	.	.	splicing	ENSG00000154845(ENST00000400555:exon2:c.7+1G>A;ENST00000400556:exon2:c.7+1G>A;ENST00000285124:exon2:c.7+1G>A;ENST00000578875:exon2:c.7+1G>A;ENST00000580182:exon2:c.7+1G>A;ENST00000583092:exon2:c.7+1G>A)	.	.	0.999983962310335	0.926
18	9614476	C	A	18	9614478	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon1:c.G7T:p.D3Y;PPP4R1:NM_001042388:exon1:c.G7T:p.D3Y;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.G7T:p.D3Y;ENSG00000154845:ENST00000285124:exon1:c.G7T:p.D3Y;ENSG00000154845:ENST00000400556:exon1:c.G7T:p.D3Y;ENSG00000154845:ENST00000580182:exon1:c.G7T:p.D3Y;ENSG00000154845:ENST00000578875:exon1:c.G7T:p.D3Y;ENSG00000154845:ENST00000400555:exon1:c.G7T:p.D3Y;	0.999100114485659	0.94
18	9614476	C	G	18	9614478	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon1:c.G7C:p.D3H;PPP4R1:NM_001042388:exon1:c.G7C:p.D3H;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.G7C:p.D3H;ENSG00000154845:ENST00000285124:exon1:c.G7C:p.D3H;ENSG00000154845:ENST00000400556:exon1:c.G7C:p.D3H;ENSG00000154845:ENST00000580182:exon1:c.G7C:p.D3H;ENSG00000154845:ENST00000578875:exon1:c.G7C:p.D3H;ENSG00000154845:ENST00000400555:exon1:c.G7C:p.D3H;	0.992247963118041	0.632
18	9614476	C	T	18	9614478	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon1:c.G7A:p.D3N;PPP4R1:NM_001042388:exon1:c.G7A:p.D3N;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.G7A:p.D3N;ENSG00000154845:ENST00000285124:exon1:c.G7A:p.D3N;ENSG00000154845:ENST00000400556:exon1:c.G7A:p.D3N;ENSG00000154845:ENST00000580182:exon1:c.G7A:p.D3N;ENSG00000154845:ENST00000578875:exon1:c.G7A:p.D3N;ENSG00000154845:ENST00000400555:exon1:c.G7A:p.D3N;	0.999647835788948	0.92
18	9614477	C	A	18	9614479	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon1:c.G6T:p.A2A;PPP4R1:NM_001042388:exon1:c.G6T:p.A2A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.G6T:p.A2A;ENSG00000154845:ENST00000285124:exon1:c.G6T:p.A2A;ENSG00000154845:ENST00000400556:exon1:c.G6T:p.A2A;ENSG00000154845:ENST00000580182:exon1:c.G6T:p.A2A;ENSG00000154845:ENST00000578875:exon1:c.G6T:p.A2A;ENSG00000154845:ENST00000400555:exon1:c.G6T:p.A2A;	0.0242159035919956	0.138
18	9614477	C	G	18	9614479	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon1:c.G6C:p.A2A;PPP4R1:NM_001042388:exon1:c.G6C:p.A2A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.G6C:p.A2A;ENSG00000154845:ENST00000285124:exon1:c.G6C:p.A2A;ENSG00000154845:ENST00000400556:exon1:c.G6C:p.A2A;ENSG00000154845:ENST00000580182:exon1:c.G6C:p.A2A;ENSG00000154845:ENST00000578875:exon1:c.G6C:p.A2A;ENSG00000154845:ENST00000400555:exon1:c.G6C:p.A2A;	0.0227906004979614	0.102
18	9614477	C	T	18	9614479	y	y	exonic	PPP4R1	synonymous SNV	PPP4R1:NM_005134:exon1:c.G6A:p.A2A;PPP4R1:NM_001042388:exon1:c.G6A:p.A2A;	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.G6A:p.A2A;ENSG00000154845:ENST00000285124:exon1:c.G6A:p.A2A;ENSG00000154845:ENST00000400556:exon1:c.G6A:p.A2A;ENSG00000154845:ENST00000580182:exon1:c.G6A:p.A2A;ENSG00000154845:ENST00000578875:exon1:c.G6A:p.A2A;ENSG00000154845:ENST00000400555:exon1:c.G6A:p.A2A;	0.00513524660371345	0.088
18	9614478	G	A	18	9614480	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon1:c.C5T:p.A2V;PPP4R1:NM_001042388:exon1:c.C5T:p.A2V;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.C5T:p.A2V;ENSG00000154845:ENST00000285124:exon1:c.C5T:p.A2V;ENSG00000154845:ENST00000400556:exon1:c.C5T:p.A2V;ENSG00000154845:ENST00000580182:exon1:c.C5T:p.A2V;ENSG00000154845:ENST00000578875:exon1:c.C5T:p.A2V;ENSG00000154845:ENST00000400555:exon1:c.C5T:p.A2V;	0.0368035508463994	0.368
18	9614478	G	C	18	9614480	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon1:c.C5G:p.A2G;PPP4R1:NM_001042388:exon1:c.C5G:p.A2G;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.C5G:p.A2G;ENSG00000154845:ENST00000285124:exon1:c.C5G:p.A2G;ENSG00000154845:ENST00000400556:exon1:c.C5G:p.A2G;ENSG00000154845:ENST00000580182:exon1:c.C5G:p.A2G;ENSG00000154845:ENST00000578875:exon1:c.C5G:p.A2G;ENSG00000154845:ENST00000400555:exon1:c.C5G:p.A2G;	0.00187458233261309	0.106
18	9614478	G	T	18	9614480	y	y	exonic	PPP4R1	nonsynonymous SNV	PPP4R1:NM_005134:exon1:c.C5A:p.A2E;PPP4R1:NM_001042388:exon1:c.C5A:p.A2E;	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000583092:exon1:c.C5A:p.A2E;ENSG00000154845:ENST00000285124:exon1:c.C5A:p.A2E;ENSG00000154845:ENST00000400556:exon1:c.C5A:p.A2E;ENSG00000154845:ENST00000580182:exon1:c.C5A:p.A2E;ENSG00000154845:ENST00000578875:exon1:c.C5A:p.A2E;ENSG00000154845:ENST00000400555:exon1:c.C5A:p.A2E;	7.32419238902981E-4	0.052
18	9614786	G	A	18	9614788	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	4.52298216767685E-4	0.012
18	9614786	G	C	18	9614788	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	6.45466609029658E-4	0.01
18	9614786	G	T	18	9614788	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	6.45466609029658E-4	0.01
18	9614787	C	A	18	9614789	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	6.08919612269704E-4	0.05
18	9614787	C	G	18	9614789	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	6.08919612269704E-4	0.016
18	9614787	C	T	18	9614789	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	6.08919612269704E-4	0.016
18	9614788	G	A	18	9614790	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	2.94916083143952E-4	0.0
18	9614788	G	C	18	9614790	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	1.60532397666198E-4	0.0
18	9614788	G	T	18	9614790	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	2.94916083143952E-4	0.002
18	9614789	C	A	18	9614791	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	1.99921713663002E-4	0.0
18	9614789	C	G	18	9614791	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	1.99921713663002E-4	0.002
18	9614789	C	T	18	9614791	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	3.71043952814391E-4	0.01
18	9614790	T	A	18	9614792	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	1.14955904636156E-4	0.0
18	9614790	T	C	18	9614792	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	1.68090861751411E-4	0.002
18	9614790	T	G	18	9614792	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	1.68090861751411E-4	0.002
18	9614791	C	A	18	9614793	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	2.94916083143952E-4	0.0
18	9614791	C	G	18	9614793	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	2.94916083143952E-4	0.014
18	9614791	C	T	18	9614793	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	2.06635037737199E-4	0.0
18	9614792	A	C	18	9614794	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	splicing	ENSG00000154845	.	.	8.38265661593041E-5	0.0
18	9614792	A	G	18	9614794	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	splicing	ENSG00000154845	.	.	8.38265661593041E-5	0.0
18	9614792	A	T	18	9614794	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	splicing	ENSG00000154845	.	.	8.38265661593041E-5	0.0
18	9614793	C	A	18	9614795	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	splicing	ENSG00000154845	.	.	6.08919612269704E-4	0.016
18	9614793	C	G	18	9614795	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	splicing	ENSG00000154845	.	.	6.08919612269704E-4	0.014
18	9614793	C	T	18	9614795	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	splicing	ENSG00000154845	.	.	6.08919612269704E-4	0.016
18	9614794	A	C	18	9614796	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	1.68090861751411E-4	0.052
18	9614794	A	G	18	9614796	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	2.17716567990649E-4	0.08
18	9614794	A	T	18	9614796	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	1.68090861751411E-4	0.002
18	9614795	C	A	18	9614797	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	2.75839701427995E-4	0.002
18	9614795	C	G	18	9614797	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	2.75839701427995E-4	0.004
18	9614795	C	T	18	9614797	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	1.88650842364987E-4	0.0
18	9614796	C	A	18	9614798	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	6.0258865250541E-4	0.022
18	9614796	C	G	18	9614798	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	6.08919612269704E-4	0.016
18	9614796	C	T	18	9614798	n	y	upstream	PPP4R1;RP11-692N5.1	.	.	UTR5	ENSG00000154845	.	.	6.0258865250541E-4	0.014
18	9615009	G	A	18	9615011	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.266
18	9615009	G	C	18	9615011	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.27
18	9615009	G	T	18	9615011	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.268
18	9615010	C	A	18	9615012	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.266
18	9615010	C	G	18	9615012	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.266
18	9615010	C	T	18	9615012	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.272
18	9615011	A	C	18	9615013	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	3.57811943784244E-5	0.062
18	9615011	A	G	18	9615013	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	3.57811943784244E-5	0.058
18	9615011	A	T	18	9615013	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	8.82141051040259E-5	0.102
18	9615012	C	A	18	9615014	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.266
18	9615012	C	G	18	9615014	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.268
18	9615012	C	T	18	9615014	n	y	ncRNA_exonic	RP11-692N5.1	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.266
18	9615013	G	A	18	9615015	n	y	ncRNA_splicing	RP11-692N5.1(NR_110773:exon1:c.208+1G>A)	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.29
18	9615013	G	C	18	9615015	n	y	ncRNA_splicing	RP11-692N5.1(NR_110773:exon1:c.208+1G>C)	.	.	intronic	ENSG00000154845	.	.	0.0517906223079821	0.228
18	9615013	G	T	18	9615015	n	y	ncRNA_splicing	RP11-692N5.1(NR_110773:exon1:c.208+1G>T)	.	.	intronic	ENSG00000154845	.	.	0.0579370398021417	0.244
18	9615014	T	A	18	9615016	n	y	ncRNA_splicing	RP11-692N5.1(NR_110773:exon1:c.208+2T>A)	.	.	intronic	ENSG00000154845	.	.	1.35476619095803E-4	0.13
18	9615014	T	C	18	9615016	n	y	ncRNA_splicing	RP11-692N5.1(NR_110773:exon1:c.208+2T>C)	.	.	intronic	ENSG00000154845	.	.	1.20321002835924E-4	0.094
18	9615014	T	G	18	9615016	n	y	ncRNA_splicing	RP11-692N5.1(NR_110773:exon1:c.208+2T>G)	.	.	intronic	ENSG00000154845	.	.	1.20321002835924E-4	0.094
18	9615015	A	C	18	9615017	n	y	ncRNA_intronic	RP11-692N5.1	.	.	splicing	ENSG00000154845(ENST00000582240:exon2:c.163+2T>G)	.	.	8.63417940347592E-5	0.162
18	9615015	A	G	18	9615017	n	y	ncRNA_intronic	RP11-692N5.1	.	.	splicing	ENSG00000154845(ENST00000582240:exon2:c.163+2T>C)	.	.	8.63417940347592E-5	0.162
18	9615015	A	T	18	9615017	n	y	ncRNA_intronic	RP11-692N5.1	.	.	splicing	ENSG00000154845(ENST00000582240:exon2:c.163+2T>A)	.	.	1.12127390263109E-4	0.156
18	9615016	C	A	18	9615018	n	y	ncRNA_intronic	RP11-692N5.1	.	.	splicing	ENSG00000154845(ENST00000582240:exon2:c.163+1G>T)	.	.	0.0772839218062099	0.282
18	9615016	C	G	18	9615018	n	y	ncRNA_intronic	RP11-692N5.1	.	.	splicing	ENSG00000154845(ENST00000582240:exon2:c.163+1G>C)	.	.	0.0772839218062099	0.276
18	9615016	C	T	18	9615018	n	y	ncRNA_intronic	RP11-692N5.1	.	.	splicing	ENSG00000154845(ENST00000582240:exon2:c.163+1G>A)	.	.	0.0772839218062099	0.284
18	9615017	G	A	18	9615019	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.C163T:p.H55Y;	0.0293978879788567	0.184
18	9615017	G	C	18	9615019	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.C163G:p.H55D;	0.015054886733409	0.146
18	9615017	G	T	18	9615019	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.C163A:p.H55N;	0.0293978879788567	0.184
18	9615018	T	A	18	9615020	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.A162T:p.R54R;	0.0772839218062099	0.2
18	9615018	T	C	18	9615020	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.A162G:p.R54R;	0.0772839218062099	0.204
18	9615018	T	G	18	9615020	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	synonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.A162C:p.R54R;	0.0772839218062099	0.204
18	9615019	C	A	18	9615021	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.G161T:p.R54L;	0.044435294314274	0.196
18	9615019	C	G	18	9615021	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.G161C:p.R54P;	0.0103654337966686	0.09
18	9615019	C	T	18	9615021	n	y	ncRNA_intronic	RP11-692N5.1	.	.	exonic	ENSG00000154845	nonsynonymous SNV	ENSG00000154845:ENST00000582240:exon1:c.G161A:p.R54Q;	0.0579370398021417	0.228
18	9708439	G	A	18	9708442	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon1:c.G37A:p.G13R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G37A:p.G13R;ENSG00000168461:ENST00000583137:exon1:c.G37A:p.G13R;ENSG00000168461:ENST00000578734:exon1:c.G37A:p.G13R;ENSG00000168461:ENST00000578921:exon1:c.G37A:p.G13R;	0.117635673269749	0.434
18	9708439	G	C	18	9708442	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon1:c.G37C:p.G13R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G37C:p.G13R;ENSG00000168461:ENST00000583137:exon1:c.G37C:p.G13R;ENSG00000168461:ENST00000578734:exon1:c.G37C:p.G13R;ENSG00000168461:ENST00000578921:exon1:c.G37C:p.G13R;	0.0615961152675417	0.426
18	9708439	G	T	18	9708442	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon1:c.G37T:p.G13W;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G37T:p.G13W;ENSG00000168461:ENST00000583137:exon1:c.G37T:p.G13W;ENSG00000168461:ENST00000578734:exon1:c.G37T:p.G13W;ENSG00000168461:ENST00000578921:exon1:c.G37T:p.G13W;	0.164432592799224	0.304
18	9708440	G	A	18	9708443	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon1:c.G38A:p.G13E;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G38A:p.G13E;ENSG00000168461:ENST00000583137:exon1:c.G38A:p.G13E;ENSG00000168461:ENST00000578734:exon1:c.G38A:p.G13E;ENSG00000168461:ENST00000578921:exon1:c.G38A:p.G13E;	0.158948748521549	0.282
18	9708440	G	C	18	9708443	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon1:c.G38C:p.G13A;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G38C:p.G13A;ENSG00000168461:ENST00000583137:exon1:c.G38C:p.G13A;ENSG00000168461:ENST00000578734:exon1:c.G38C:p.G13A;ENSG00000168461:ENST00000578921:exon1:c.G38C:p.G13A;	0.24414811730759	0.57
18	9708440	G	T	18	9708443	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon1:c.G38T:p.G13V;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G38T:p.G13V;ENSG00000168461:ENST00000583137:exon1:c.G38T:p.G13V;ENSG00000168461:ENST00000578734:exon1:c.G38T:p.G13V;ENSG00000168461:ENST00000578921:exon1:c.G38T:p.G13V;	0.351710256513649	0.314
18	9708441	G	A	18	9708444	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon1:c.G39A:p.G13G;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G39A:p.G13G;ENSG00000168461:ENST00000583137:exon1:c.G39A:p.G13G;ENSG00000168461:ENST00000578734:exon1:c.G39A:p.G13G;ENSG00000168461:ENST00000578921:exon1:c.G39A:p.G13G;	0.999733045427328	0.982
18	9708441	G	C	18	9708444	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon1:c.G39C:p.G13G;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G39C:p.G13G;ENSG00000168461:ENST00000583137:exon1:c.G39C:p.G13G;ENSG00000168461:ENST00000578734:exon1:c.G39C:p.G13G;ENSG00000168461:ENST00000578921:exon1:c.G39C:p.G13G;	0.999897773779588	0.982
18	9708441	G	T	18	9708444	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon1:c.G39T:p.G13G;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon1:c.G39T:p.G13G;ENSG00000168461:ENST00000583137:exon1:c.G39T:p.G13G;ENSG00000168461:ENST00000578734:exon1:c.G39T:p.G13G;ENSG00000168461:ENST00000578921:exon1:c.G39T:p.G13G;	0.999687995202491	0.968
18	9708442	G	A	18	9708445	y	y	splicing	RAB31(NM_006868:exon1:c.39+1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon1:c.39+1G>A;ENST00000578734:exon1:c.39+1G>A;ENST00000581109:exon1:c.39+1G>A;ENST00000583137:exon1:c.39+1G>A)	.	.	0.999986675681007	0.934
18	9708442	G	C	18	9708445	y	y	splicing	RAB31(NM_006868:exon1:c.39+1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon1:c.39+1G>C;ENST00000578734:exon1:c.39+1G>C;ENST00000581109:exon1:c.39+1G>C;ENST00000583137:exon1:c.39+1G>C)	.	.	0.999986675681007	0.934
18	9708442	G	T	18	9708445	y	y	splicing	RAB31(NM_006868:exon1:c.39+1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon1:c.39+1G>T;ENST00000578734:exon1:c.39+1G>T;ENST00000581109:exon1:c.39+1G>T;ENST00000583137:exon1:c.39+1G>T)	.	.	0.999986675681007	0.934
18	9708443	T	A	18	9708446	y	y	splicing	RAB31(NM_006868:exon1:c.39+2T>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon1:c.39+2T>A;ENST00000578734:exon1:c.39+2T>A;ENST00000581109:exon1:c.39+2T>A;ENST00000583137:exon1:c.39+2T>A)	.	.	0.999989917668626	0.928
18	9708443	T	C	18	9708446	y	y	splicing	RAB31(NM_006868:exon1:c.39+2T>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon1:c.39+2T>C;ENST00000578734:exon1:c.39+2T>C;ENST00000581109:exon1:c.39+2T>C;ENST00000583137:exon1:c.39+2T>C)	.	.	0.999927254940125	0.864
18	9708443	T	G	18	9708446	y	y	splicing	RAB31(NM_006868:exon1:c.39+2T>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon1:c.39+2T>G;ENST00000578734:exon1:c.39+2T>G;ENST00000581109:exon1:c.39+2T>G;ENST00000583137:exon1:c.39+2T>G)	.	.	0.999989917668626	0.928
18	9708444	G	A	18	9708447	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00124953163382446	0.134
18	9708444	G	C	18	9708447	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.791397309541136	0.698
18	9708444	G	T	18	9708447	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.856566192895034	0.554
18	9708445	A	C	18	9708448	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.991844211320125	0.648
18	9708445	A	G	18	9708448	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999162118642416	0.894
18	9708445	A	T	18	9708448	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999254045291312	0.808
18	9708446	G	A	18	9708449	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999978931424097	0.918
18	9708446	G	C	18	9708449	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999985215630848	0.984
18	9708446	G	T	18	9708449	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999986266199434	0.87
18	9708447	T	A	18	9708450	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.989471866114122	0.71
18	9708447	T	C	18	9708450	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.993308984700343	0.754
18	9708447	T	G	18	9708450	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.991998217308765	0.762
18	9708448	C	A	18	9708451	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.28902900025365E-4	0.018
18	9708448	C	G	18	9708451	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.12465762156671E-4	0.028
18	9708448	C	T	18	9708451	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.39986574689254E-5	0.014
18	9708449	C	A	18	9708452	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.3056449615908E-4	0.014
18	9708449	C	G	18	9708452	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.07489012245972E-4	0.01
18	9708449	C	T	18	9708452	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.89358768570465E-4	0.03
18	9722727	G	A	18	9722730	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.30945796578933E-5	0.0
18	9722727	G	C	18	9722730	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.52881759733747E-5	0.0
18	9722727	G	T	18	9722730	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.52881759733747E-5	0.0
18	9722728	T	A	18	9722731	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.76375603973572E-5	0.004
18	9722728	T	C	18	9722731	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.76375603973572E-5	0.002
18	9722728	T	G	18	9722731	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.76375603973572E-5	0.002
18	9722729	G	A	18	9722732	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.06619588578661E-5	0.008
18	9722729	G	C	18	9722732	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.36187558740154E-5	0.004
18	9722729	G	T	18	9722732	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.06619588578661E-5	0.012
18	9722730	A	C	18	9722733	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.61085043127738E-5	0.004
18	9722730	A	G	18	9722733	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.61085043127738E-5	0.004
18	9722730	A	T	18	9722733	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.95242954520313E-5	0.004
18	9722731	T	A	18	9722734	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9722731	T	C	18	9722734	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9722731	T	G	18	9722734	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9722732	T	A	18	9722735	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.002
18	9722732	T	C	18	9722735	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.002
18	9722732	T	G	18	9722735	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.002
18	9722733	A	C	18	9722736	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.4631346304159E-5	0.004
18	9722733	A	G	18	9722736	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.4631346304159E-5	0.004
18	9722733	A	T	18	9722736	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.80465223468383E-5	0.004
18	9722734	T	A	18	9722737	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.52159304237333E-5	0.024
18	9722734	T	C	18	9722737	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.72365104571721E-5	0.018
18	9722734	T	G	18	9722737	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.72365104571721E-5	0.018
18	9722735	C	A	18	9722738	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.13792578710815E-4	0.038
18	9722735	C	G	18	9722738	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.13792578710815E-4	0.038
18	9722735	C	T	18	9722738	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.81666394918856E-4	0.038
18	9722736	C	A	18	9722739	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.20695034961553E-5	0.016
18	9722736	C	G	18	9722739	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.20695034961553E-5	0.006
18	9722736	C	T	18	9722739	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.20695034961553E-5	0.0
18	9722737	A	C	18	9722740	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.40-2A>C)	.	.	1.33984070840462E-5	0.008
18	9722737	A	G	18	9722740	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.40-2A>G)	.	.	1.33984070840462E-5	0.008
18	9722737	A	T	18	9722740	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.40-2A>T)	.	.	1.33984070840462E-5	0.008
18	9722738	G	A	18	9722741	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.40-1G>A)	.	.	6.89210916601576E-5	0.0
18	9722738	G	C	18	9722741	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.40-1G>C)	.	.	9.21619245134896E-5	0.004
18	9722738	G	T	18	9722741	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.40-1G>T)	.	.	9.21619245134896E-5	0.02
18	9722739	G	A	18	9722742	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.G40A:p.G14R;	9.83188681281962E-5	0.006
18	9722739	G	C	18	9722742	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.G40C:p.G14R;	4.14222378774554E-5	0.002
18	9722739	G	T	18	9722742	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	stopgain SNV	ENSG00000168461:ENST00000583137:exon2:c.G40T:p.G14X;	1.77945247904412E-4	0.006
18	9722740	G	A	18	9722743	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.G41A:p.G14E;	7.34280463342776E-4	0.012
18	9722740	G	C	18	9722743	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.G41C:p.G14A;	7.34280463342776E-4	0.036
18	9722740	G	T	18	9722743	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.G41T:p.G14V;	9.81666394918856E-4	0.052
18	9722858	C	A	18	9722861	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.C159A:p.L53L;	4.04701645548368E-5	0.018
18	9722858	C	G	18	9722861	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.C159G:p.L53L;	3.55183766894313E-5	0.014
18	9722858	C	T	18	9722861	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.C159T:p.L53L;	4.04701645548368E-5	0.018
18	9722859	A	C	18	9722862	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.A160C:p.R54R;	3.2886448328189E-5	0.0
18	9722859	A	G	18	9722862	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.A160G:p.R54G;	6.59706358747764E-5	0.0
18	9722859	A	T	18	9722862	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	stopgain SNV	ENSG00000168461:ENST00000583137:exon2:c.A160T:p.R54X;	2.58758677486861E-5	0.104
18	9722860	G	A	18	9722863	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.G161A:p.R54K;	8.2076870637481E-5	0.0
18	9722860	G	C	18	9722863	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.G161C:p.R54T;	6.89210916601576E-5	0.0
18	9722860	G	T	18	9722863	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon2:c.G161T:p.R54I;	6.89210916601576E-5	0.004
18	9722861	G	A	18	9722864	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.161+1G>A)	.	.	1.00675832680685E-4	0.022
18	9722861	G	C	18	9722864	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.161+1G>C)	.	.	1.00675832680685E-4	0.0
18	9722861	G	T	18	9722864	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.161+1G>T)	.	.	1.00675832680685E-4	0.002
18	9722862	T	A	18	9722865	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.161+2T>A)	.	.	4.68140984436469E-5	0.01
18	9722862	T	C	18	9722865	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.161+2T>C)	.	.	6.26007143607885E-5	0.006
18	9722862	T	G	18	9722865	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon2:c.161+2T>G)	.	.	6.26007143607885E-5	0.006
18	9722863	A	C	18	9722866	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.004
18	9722863	A	G	18	9722866	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.004
18	9722863	A	T	18	9722866	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.78864525412067E-5	0.006
18	9722864	T	A	18	9722867	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.08788427788342E-5	0.0
18	9722864	T	C	18	9722867	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.08788427788342E-5	0.0
18	9722864	T	G	18	9722867	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.08788427788342E-5	0.0
18	9722865	G	A	18	9722868	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.08692400722682E-5	0.0
18	9722865	G	C	18	9722868	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.13951347297017E-5	0.002
18	9722865	G	T	18	9722868	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.13951347297017E-5	0.086
18	9722866	G	A	18	9722869	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.63208194819379E-5	0.0
18	9722866	G	C	18	9722869	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.21962778979454E-5	0.0
18	9722866	G	T	18	9722869	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.21962778979454E-5	0.0
18	9722867	C	A	18	9722870	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.4631346304159E-5	0.0
18	9722867	C	G	18	9722870	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.4631346304159E-5	0.0
18	9722867	C	T	18	9722870	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.4631346304159E-5	0.0
18	9722868	C	A	18	9722871	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.0
18	9722868	C	G	18	9722871	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.0
18	9722868	C	T	18	9722871	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.0
18	9723543	G	A	18	9723546	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.024
18	9723543	G	C	18	9723546	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.024
18	9723543	G	T	18	9723546	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.024
18	9723544	T	A	18	9723547	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9723544	T	C	18	9723547	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9723544	T	G	18	9723547	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9723545	T	A	18	9723548	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.57123356397867E-5	0.012
18	9723545	T	C	18	9723548	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.19654958573966E-5	0.02
18	9723545	T	G	18	9723548	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.19654958573966E-5	0.02
18	9723546	T	A	18	9723549	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.73686617846189E-5	0.01
18	9723546	T	C	18	9723549	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.73686617846189E-5	0.004
18	9723546	T	G	18	9723549	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.73686617846189E-5	0.004
18	9723547	T	A	18	9723550	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.0
18	9723547	T	C	18	9723550	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.0
18	9723547	T	G	18	9723550	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.45277156108894E-5	0.0
18	9723548	G	A	18	9723551	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9723548	G	C	18	9723551	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9723548	G	T	18	9723551	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.002
18	9723549	T	A	18	9723552	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9723549	T	C	18	9723552	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.49453169148861E-5	0.01
18	9723549	T	G	18	9723552	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.49453169148861E-5	0.01
18	9723550	A	C	18	9723553	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.49453169148861E-5	0.01
18	9723550	A	G	18	9723553	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.49453169148861E-5	0.01
18	9723550	A	T	18	9723553	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9723551	A	C	18	9723554	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.49453169148861E-5	0.01
18	9723551	A	G	18	9723554	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.49453169148861E-5	0.01
18	9723551	A	T	18	9723554	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9723552	C	A	18	9723555	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.61707993540616E-5	0.0
18	9723552	C	G	18	9723555	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.61707993540616E-5	0.0
18	9723552	C	T	18	9723555	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.61707993540616E-5	0.0
18	9723553	A	C	18	9723556	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.162-2A>C)	.	.	5.47959532904733E-5	0.014
18	9723553	A	G	18	9723556	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.162-2A>G)	.	.	5.47959532904733E-5	0.014
18	9723553	A	T	18	9723556	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.162-2A>T)	.	.	4.09774573448081E-5	0.014
18	9723554	G	A	18	9723557	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.162-1G>A)	.	.	6.270921211638E-5	0.01
18	9723554	G	C	18	9723557	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.162-1G>C)	.	.	5.50364818966655E-5	0.012
18	9723554	G	T	18	9723557	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.162-1G>T)	.	.	6.270921211638E-5	0.01
18	9723555	A	C	18	9723558	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon3:c.A162C:p.R54S;	2.30852315876377E-5	0.012
18	9723555	A	G	18	9723558	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000583137:exon3:c.A162G:p.R54R;	2.30852315876377E-5	0.01
18	9723555	A	T	18	9723558	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon3:c.A162T:p.R54S;	5.47959532904733E-5	0.014
18	9723556	A	C	18	9723559	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon3:c.A163C:p.T55P;	2.30852315876377E-5	0.01
18	9723556	A	G	18	9723559	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon3:c.A163G:p.T55A;	2.30852315876377E-5	0.008
18	9723556	A	T	18	9723559	n	y	intronic	RAB31	.	.	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000583137:exon3:c.A163T:p.T55S;	2.30852315876377E-5	0.01
18	9723708	A	C	18	9723711	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	1.99153316237132E-5	0.0
18	9723708	A	G	18	9723711	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	1.99153316237132E-5	0.0
18	9723708	A	T	18	9723711	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	3.07620641825897E-5	0.0
18	9723709	T	A	18	9723712	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9723709	T	C	18	9723712	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9723709	T	G	18	9723712	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9723710	G	A	18	9723713	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	2.64191646885158E-5	0.01
18	9723710	G	C	18	9723713	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	1.71037163550947E-5	0.014
18	9723710	G	T	18	9723713	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	2.64191646885158E-5	0.026
18	9723711	G	A	18	9723714	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.317+1G>A)	.	.	6.270921211638E-5	0.01
18	9723711	G	C	18	9723714	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.317+1G>C)	.	.	5.50364818966655E-5	0.012
18	9723711	G	T	18	9723714	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.317+1G>T)	.	.	6.270921211638E-5	0.01
18	9723712	T	A	18	9723715	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.317+2T>A)	.	.	3.07620641825897E-5	0.002
18	9723712	T	C	18	9723715	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.317+2T>C)	.	.	3.07620641825897E-5	0.002
18	9723712	T	G	18	9723715	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon3:c.317+2T>G)	.	.	3.07620641825897E-5	0.002
18	9723713	G	A	18	9723716	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.59660858139777E-5	0.0
18	9723713	G	C	18	9723716	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.59660858139777E-5	0.0
18	9723713	G	T	18	9723716	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.59660858139777E-5	0.0
18	9723714	A	C	18	9723717	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.0
18	9723714	A	G	18	9723717	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.0
18	9723714	A	T	18	9723717	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.0
18	9723715	G	A	18	9723718	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.042
18	9723715	G	C	18	9723718	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.024
18	9723715	G	T	18	9723718	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.03
18	9723716	A	C	18	9723719	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.0
18	9723716	A	G	18	9723719	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.0
18	9723716	A	T	18	9723719	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.99153316237132E-5	0.0
18	9723717	G	A	18	9723720	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.014
18	9723717	G	C	18	9723720	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.024
18	9723717	G	T	18	9723720	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.71037163550947E-5	0.03
18	9723718	A	C	18	9723721	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9723718	A	G	18	9723721	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9723718	A	T	18	9723721	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.30852315876377E-5	0.008
18	9726012	T	A	18	9726015	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.80109675654916E-5	0.0
18	9726012	T	C	18	9726015	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.80109675654916E-5	0.0
18	9726012	T	G	18	9726015	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.80109675654916E-5	0.0
18	9726013	T	A	18	9726016	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.12967705479703E-5	0.002
18	9726013	T	C	18	9726016	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.05567792764038E-5	0.002
18	9726013	T	G	18	9726016	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.05567792764038E-5	0.002
18	9726014	C	A	18	9726017	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.31929338280547E-5	0.004
18	9726014	C	G	18	9726017	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.31929338280547E-5	0.0
18	9726014	C	T	18	9726017	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.78205327723092E-5	0.004
18	9726015	G	A	18	9726018	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.88563338073588E-5	0.004
18	9726015	G	C	18	9726018	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.68952365742707E-5	0.004
18	9726015	G	T	18	9726018	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.88563338073588E-5	0.004
18	9726016	A	C	18	9726019	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.33984070840462E-5	0.0
18	9726016	A	G	18	9726019	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.33984070840462E-5	0.0
18	9726016	A	T	18	9726019	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.44571914076258E-5	0.0
18	9726017	T	A	18	9726020	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.42206730061288E-5	0.0
18	9726017	T	C	18	9726020	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.57607375837078E-5	0.01
18	9726017	T	G	18	9726020	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.57607375837078E-5	0.01
18	9726018	C	A	18	9726021	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.33984070840462E-5	0.0
18	9726018	C	G	18	9726021	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.33984070840462E-5	0.0
18	9726018	C	T	18	9726021	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.44571914076258E-5	0.0
18	9726019	T	A	18	9726022	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.29276528558917E-5	0.002
18	9726019	T	C	18	9726022	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.29276528558917E-5	0.002
18	9726019	T	G	18	9726022	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.29276528558917E-5	0.002
18	9726020	G	A	18	9726023	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.09774573448081E-5	0.006
18	9726020	G	C	18	9726023	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.09774573448081E-5	0.004
18	9726020	G	T	18	9726023	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.09774573448081E-5	0.004
18	9726021	C	A	18	9726024	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.91125889811943E-5	0.026
18	9726021	C	G	18	9726024	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.91125889811943E-5	0.008
18	9726021	C	T	18	9726024	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.67272766448078E-5	0.0
18	9726022	A	C	18	9726025	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon4:c.318-2A>C)	.	.	6.83891202920338E-5	0.0
18	9726022	A	G	18	9726025	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon4:c.318-2A>G)	.	.	6.83891202920338E-5	0.0
18	9726022	A	T	18	9726025	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon4:c.318-2A>T)	.	.	6.83891202920338E-5	0.0
18	9726023	G	A	18	9726026	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon4:c.318-1G>A)	.	.	3.39529611572298E-5	0.004
18	9726023	G	C	18	9726026	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon4:c.318-1G>C)	.	.	3.39529611572298E-5	0.004
18	9726023	G	T	18	9726026	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon4:c.318-1G>T)	.	.	3.39529611572298E-5	0.004
18	9726024	G	A	18	9726027	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	3.67272766448078E-5	0.0
18	9726024	G	C	18	9726027	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	4.91125889811943E-5	0.022
18	9726024	G	T	18	9726027	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	3.67272766448078E-5	0.0
18	9726025	T	A	18	9726028	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	6.67864951622834E-4	0.0
18	9726025	T	C	18	9726028	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	6.54291542054858E-4	0.002
18	9726025	T	G	18	9726028	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	6.54291542054858E-4	0.002
18	9757948	T	A	18	9757951	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.002
18	9757948	T	C	18	9757951	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.004
18	9757948	T	G	18	9757951	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.004
18	9757949	C	A	18	9757952	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.01
18	9757949	C	G	18	9757952	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.01
18	9757949	C	T	18	9757952	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.016
18	9757950	T	A	18	9757953	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.59869935472987E-5	0.002
18	9757950	T	C	18	9757953	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.002
18	9757950	T	G	18	9757953	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.002
18	9757951	T	A	18	9757954	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.59869935472987E-5	0.002
18	9757951	T	C	18	9757954	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.002
18	9757951	T	G	18	9757954	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.002
18	9757952	G	A	18	9757955	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.01
18	9757952	G	C	18	9757955	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.60815764102212E-5	0.008
18	9757952	G	T	18	9757955	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.012
18	9757953	T	A	18	9757956	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.49702646665041E-5	0.006
18	9757953	T	C	18	9757956	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.49702646665041E-5	0.004
18	9757953	T	G	18	9757956	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.49702646665041E-5	0.004
18	9757954	C	A	18	9757957	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.01
18	9757954	C	G	18	9757957	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.01
18	9757954	C	T	18	9757957	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.016
18	9757955	C	A	18	9757958	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.014
18	9757955	C	G	18	9757958	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.80576877278223E-4	0.01
18	9757955	C	T	18	9757958	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.35043111279135E-4	0.012
18	9757956	T	A	18	9757959	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.59869935472987E-5	0.002
18	9757956	T	C	18	9757959	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.002
18	9757956	T	G	18	9757959	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63055045914417E-5	0.002
18	9757957	T	A	18	9757960	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.59869935472987E-5	0.002
18	9757957	T	C	18	9757960	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.59869935472987E-5	0.002
18	9757957	T	G	18	9757960	n	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.59869935472987E-5	0.002
18	9757958	A	C	18	9757961	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon5:c.443-2A>C)	.	.	7.25896049673018E-5	0.002
18	9757958	A	G	18	9757961	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon5:c.443-2A>G)	.	.	7.25896049673018E-5	0.002
18	9757958	A	T	18	9757961	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon5:c.443-2A>T)	.	.	1.021334356929E-4	0.002
18	9757959	G	A	18	9757962	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon5:c.443-1G>A)	.	.	2.69979964329391E-4	0.002
18	9757959	G	C	18	9757962	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon5:c.443-1G>C)	.	.	2.32029592054434E-4	0.002
18	9757959	G	T	18	9757962	n	y	intronic	RAB31	.	.	splicing	ENSG00000168461(ENST00000583137:exon5:c.443-1G>T)	.	.	2.32029592054434E-4	0.002
18	9757960	G	A	18	9757963	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	2.45427510716187E-4	0.004
18	9757960	G	C	18	9757963	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	2.45427510716187E-4	0.006
18	9757960	G	T	18	9757963	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	2.45427510716187E-4	0.004
18	9757961	T	A	18	9757964	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	3.0081866464866E-5	0.002
18	9757961	T	C	18	9757964	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	6.59869935472987E-5	0.002
18	9757961	T	G	18	9757964	n	y	intronic	RAB31	.	.	UTR3	ENSG00000168461	.	.	6.59869935472987E-5	0.004
18	9775263	A	C	18	9775266	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.54743075656515E-6	0.0
18	9775263	A	G	18	9775266	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.43925698759826E-5	0.008
18	9775263	A	T	18	9775266	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.19785226122903E-5	0.004
18	9775264	T	A	18	9775267	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00157350662541468	0.158
18	9775264	T	C	18	9775267	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.05953893229091E-4	0.064
18	9775264	T	G	18	9775267	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.99944818962793	0.918
18	9775265	T	A	18	9775268	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.84786255227052E-4	0.132
18	9775265	T	C	18	9775268	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.46960325317854E-4	0.008
18	9775265	T	G	18	9775268	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.80585779758599E-4	0.126
18	9775266	C	A	18	9775269	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0044966770196187	0.074
18	9775266	C	G	18	9775269	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00275344792287371	0.058
18	9775266	C	T	18	9775269	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.00305302090006E-4	0.028
18	9775267	T	A	18	9775270	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00227746287134076	0.054
18	9775267	T	C	18	9775270	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.51846884531679E-4	0.004
18	9775267	T	G	18	9775270	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.15119256751641E-4	0.062
18	9775268	T	A	18	9775271	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.83327159471572E-4	0.032
18	9775268	T	C	18	9775271	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.75277605870101E-5	0.002
18	9775268	T	G	18	9775271	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.55405673881439E-4	0.058
18	9775269	T	A	18	9775272	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00493683518213582	0.218
18	9775269	T	C	18	9775272	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.47267653567998E-4	0.038
18	9775269	T	G	18	9775272	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0115747037391994	0.276
18	9775270	C	A	18	9775273	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.01893850443557E-4	0.032
18	9775270	C	G	18	9775273	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.18534964305543E-4	0.116
18	9775270	C	T	18	9775273	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.37055345174185E-5	0.0
18	9775271	C	A	18	9775274	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.48250142384357E-5	0.0
18	9775271	C	G	18	9775274	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.77571632676943E-5	0.0
18	9775271	C	T	18	9775274	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.29510253993454E-5	0.0
18	9775272	T	A	18	9775275	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0112462631354361	0.27
18	9775272	T	C	18	9775275	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.98657787951195E-5	0.006
18	9775272	T	G	18	9775275	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.961749804792915	0.66
18	9775273	A	C	18	9775276	y	y	splicing	RAB31(NM_006868:exon2:c.40-2A>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.40-2A>C;ENST00000581109:exon2:c.40-2A>C)	.	.	0.999986877570618	0.926
18	9775273	A	G	18	9775276	y	y	splicing	RAB31(NM_006868:exon2:c.40-2A>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.40-2A>G;ENST00000581109:exon2:c.40-2A>G)	.	.	0.999986877570618	0.926
18	9775273	A	T	18	9775276	y	y	splicing	RAB31(NM_006868:exon2:c.40-2A>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.40-2A>T;ENST00000581109:exon2:c.40-2A>T)	.	.	0.999990585896813	0.928
18	9775274	G	A	18	9775277	y	y	splicing	RAB31(NM_006868:exon2:c.40-1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.40-1G>A;ENST00000581109:exon2:c.40-1G>A)	.	.	0.999981760802075	0.938
18	9775274	G	C	18	9775277	y	y	splicing	RAB31(NM_006868:exon2:c.40-1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.40-1G>C;ENST00000581109:exon2:c.40-1G>C)	.	.	0.999981760802075	0.938
18	9775274	G	T	18	9775277	y	y	splicing	RAB31(NM_006868:exon2:c.40-1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.40-1G>T;ENST00000581109:exon2:c.40-1G>T)	.	.	0.999981760802075	0.938
18	9775275	G	A	18	9775278	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G40A:p.D14N;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G40A:p.D14N;ENSG00000168461:ENST00000578921:exon2:c.G40A:p.D14N;	0.975768846777232	0.89
18	9775275	G	C	18	9775278	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G40C:p.D14H;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G40C:p.D14H;ENSG00000168461:ENST00000578921:exon2:c.G40C:p.D14H;	0.998388010676184	0.914
18	9775275	G	T	18	9775278	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G40T:p.D14Y;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G40T:p.D14Y;ENSG00000168461:ENST00000578921:exon2:c.G40T:p.D14Y;	0.999268669875962	0.958
18	9775276	A	C	18	9775279	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.A41C:p.D14A;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.A41C:p.D14A;ENSG00000168461:ENST00000578921:exon2:c.A41C:p.D14A;	0.0751395824423164	0.244
18	9775276	A	G	18	9775279	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.A41G:p.D14G;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.A41G:p.D14G;ENSG00000168461:ENST00000578921:exon2:c.A41G:p.D14G;	0.0291913792322543	0.142
18	9775276	A	T	18	9775279	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.A41T:p.D14V;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.A41T:p.D14V;ENSG00000168461:ENST00000578921:exon2:c.A41T:p.D14V;	0.00839149620029068	0.258
18	9775352	T	A	18	9775355	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon2:c.T117A:p.I39I;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.T117A:p.I39I;ENSG00000168461:ENST00000578921:exon2:c.T117A:p.I39I;	1.63869842144065E-5	0.032
18	9775352	T	C	18	9775355	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon2:c.T117C:p.I39I;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.T117C:p.I39I;ENSG00000168461:ENST00000578921:exon2:c.T117C:p.I39I;	1.63869842144065E-5	0.038
18	9775352	T	G	18	9775355	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.T117G:p.I39M;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.T117G:p.I39M;ENSG00000168461:ENST00000578921:exon2:c.T117G:p.I39M;	5.61580862719329E-4	0.192
18	9775353	G	A	18	9775356	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G118A:p.G40R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G118A:p.G40R;ENSG00000168461:ENST00000578921:exon2:c.G118A:p.G40R;	0.839515625893557	0.622
18	9775353	G	C	18	9775356	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G118C:p.G40R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G118C:p.G40R;ENSG00000168461:ENST00000578921:exon2:c.G118C:p.G40R;	0.946875677149501	0.848
18	9775353	G	T	18	9775356	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G118T:p.G40W;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G118T:p.G40W;ENSG00000168461:ENST00000578921:exon2:c.G118T:p.G40W;	0.967528145991515	0.796
18	9775354	G	A	18	9775357	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G119A:p.G40E;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G119A:p.G40E;ENSG00000168461:ENST00000578921:exon2:c.G119A:p.G40E;	0.997704702894916	0.948
18	9775354	G	C	18	9775357	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G119C:p.G40A;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G119C:p.G40A;ENSG00000168461:ENST00000578921:exon2:c.G119C:p.G40A;	0.998978802712342	0.922
18	9775354	G	T	18	9775357	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon2:c.G119T:p.G40V;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon2:c.G119T:p.G40V;ENSG00000168461:ENST00000578921:exon2:c.G119T:p.G40V;	0.998733631932791	0.936
18	9775355	G	A	18	9775358	y	y	splicing	RAB31(NM_006868:exon2:c.119+1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.119+1G>A;ENST00000581109:exon2:c.119+1G>A)	.	.	0.999981760802075	0.938
18	9775355	G	C	18	9775358	y	y	splicing	RAB31(NM_006868:exon2:c.119+1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.119+1G>C;ENST00000581109:exon2:c.119+1G>C)	.	.	0.999981760802075	0.938
18	9775355	G	T	18	9775358	y	y	splicing	RAB31(NM_006868:exon2:c.119+1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.119+1G>T;ENST00000581109:exon2:c.119+1G>T)	.	.	0.999981760802075	0.938
18	9775356	T	A	18	9775359	y	y	splicing	RAB31(NM_006868:exon2:c.119+2T>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.119+2T>A;ENST00000581109:exon2:c.119+2T>A)	.	.	0.999992752818502	0.928
18	9775356	T	C	18	9775359	y	y	splicing	RAB31(NM_006868:exon2:c.119+2T>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.119+2T>C;ENST00000581109:exon2:c.119+2T>C)	.	.	0.992019297660769	0.618
18	9775356	T	G	18	9775359	y	y	splicing	RAB31(NM_006868:exon2:c.119+2T>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon2:c.119+2T>G;ENST00000581109:exon2:c.119+2T>G)	.	.	0.999992752818502	0.928
18	9775357	A	C	18	9775360	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.994528296883477	0.882
18	9775357	A	G	18	9775360	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0220031707656486	0.306
18	9775357	A	T	18	9775360	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.98332196412054	0.738
18	9775358	A	C	18	9775361	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.984295716451552	0.774
18	9775358	A	G	18	9775361	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.997589339242131	0.886
18	9775358	A	T	18	9775361	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.992360965992776	0.778
18	9775359	G	A	18	9775362	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999309714683165	0.814
18	9775359	G	C	18	9775362	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999056008321621	0.984
18	9775359	G	T	18	9775362	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999035705206015	0.766
18	9775360	T	A	18	9775363	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0181764563596001	0.288
18	9775360	T	C	18	9775363	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0156597101252706	0.322
18	9775360	T	G	18	9775363	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0161781300258698	0.206
18	9775361	T	A	18	9775364	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.89014397322443E-4	0.064
18	9775361	T	C	18	9775364	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.89014397322443E-4	0.084
18	9775361	T	G	18	9775364	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.20497298200597E-4	0.082
18	9775362	C	A	18	9775365	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.35516193859006E-4	0.002
18	9775362	C	G	18	9775365	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.35516193859006E-4	0.002
18	9775362	C	T	18	9775365	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.53346575437561E-4	0.004
18	9792139	C	A	18	9792142	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.20420767839445E-4	0.112
18	9792139	C	G	18	9792142	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.31461878874299E-5	0.064
18	9792139	C	T	18	9792142	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.41560132966603E-4	0.3
18	9792140	T	A	18	9792143	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.823848933153312	0.688
18	9792140	T	C	18	9792143	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.644341721459308	0.5
18	9792140	T	G	18	9792143	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.944435187420484	0.668
18	9792141	C	A	18	9792144	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0470348694565832	0.188
18	9792141	C	G	18	9792144	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0150976163174424	0.13
18	9792141	C	T	18	9792144	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0242415509909795	0.296
18	9792142	T	A	18	9792145	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00733198082593454	0.07
18	9792142	T	C	18	9792145	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.847469710712E-4	0.014
18	9792142	T	G	18	9792145	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00502086621434859	0.058
18	9792143	T	A	18	9792146	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00214388558903346	0.06
18	9792143	T	C	18	9792146	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.2191516234828E-4	0.004
18	9792143	T	G	18	9792146	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.18721133974856E-4	0.04
18	9792144	T	A	18	9792147	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.472646502738395	0.464
18	9792144	T	C	18	9792147	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0121130842700196	0.278
18	9792144	T	G	18	9792147	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.20527595673751	0.364
18	9792145	T	A	18	9792148	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0524482834228695	0.166
18	9792145	T	C	18	9792148	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.92838116263004E-4	0.098
18	9792145	T	G	18	9792148	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0319559400333406	0.218
18	9792146	T	A	18	9792149	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.738694252282571	0.588
18	9792146	T	C	18	9792149	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.166062063356079	0.4
18	9792146	T	G	18	9792149	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.553770580328539	0.6
18	9792147	T	A	18	9792150	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.50091802739458E-4	0.022
18	9792147	T	C	18	9792150	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.90416196689621E-5	0.004
18	9792147	T	G	18	9792150	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.92584992849958E-5	0.006
18	9792148	C	A	18	9792151	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.995783363681108	0.872
18	9792148	C	G	18	9792151	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999888439303297	0.934
18	9792148	C	T	18	9792151	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.818256839378203	0.336
18	9792149	A	C	18	9792152	y	y	splicing	RAB31(NM_006868:exon3:c.120-2A>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.120-2A>C;ENST00000578734:exon2:c.40-2A>C;ENST00000581109:exon3:c.120-2A>C)	.	.	0.999988247793601	0.93
18	9792149	A	G	18	9792152	y	y	splicing	RAB31(NM_006868:exon3:c.120-2A>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.120-2A>G;ENST00000578734:exon2:c.40-2A>G;ENST00000581109:exon3:c.120-2A>G)	.	.	0.999988247793601	0.93
18	9792149	A	T	18	9792152	y	y	splicing	RAB31(NM_006868:exon3:c.120-2A>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.120-2A>T;ENST00000578734:exon2:c.40-2A>T;ENST00000581109:exon3:c.120-2A>T)	.	.	0.999988247793601	0.93
18	9792150	G	A	18	9792153	y	y	splicing	RAB31(NM_006868:exon3:c.120-1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.120-1G>A;ENST00000578734:exon2:c.40-1G>A;ENST00000581109:exon3:c.120-1G>A)	.	.	0.999989072007339	0.934
18	9792150	G	C	18	9792153	y	y	splicing	RAB31(NM_006868:exon3:c.120-1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.120-1G>C;ENST00000578734:exon2:c.40-1G>C;ENST00000581109:exon3:c.120-1G>C)	.	.	0.999989072007339	0.932
18	9792150	G	T	18	9792153	y	y	splicing	RAB31(NM_006868:exon3:c.120-1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.120-1G>T;ENST00000578734:exon2:c.40-1G>T;ENST00000581109:exon3:c.120-1G>T)	.	.	0.999989072007339	0.932
18	9792151	G	A	18	9792154	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon3:c.G120A:p.G40G;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578734:exon2:c.G40A:p.G14S;	0.134337960772897	0.312
18	9792151	G	C	18	9792154	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon3:c.G120C:p.G40G;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578734:exon2:c.G40C:p.G14R;	0.282619791855449	0.448
18	9792151	G	T	18	9792154	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon3:c.G120T:p.G40G;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578734:exon2:c.G40T:p.G14C;	0.424952969062223	0.488
18	9792152	G	A	18	9792155	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon3:c.G121A:p.A41T;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G121A:p.A41T;ENSG00000168461:ENST00000578734:exon2:c.G41A:p.G14D;ENSG00000168461:ENST00000578921:exon3:c.G121A:p.A41T;	0.992603721397609	0.942
18	9792152	G	C	18	9792155	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon3:c.G121C:p.A41P;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G121C:p.A41P;ENSG00000168461:ENST00000578734:exon2:c.G41C:p.G14A;ENSG00000168461:ENST00000578921:exon3:c.G121C:p.A41P;	0.985754375942921	0.898
18	9792152	G	T	18	9792155	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon3:c.G121T:p.A41S;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G121T:p.A41S;ENSG00000168461:ENST00000578734:exon2:c.G41T:p.G14V;ENSG00000168461:ENST00000578921:exon3:c.G121T:p.A41S;	0.986475172586073	0.912
18	9792230	C	A	18	9792233	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon3:c.C199A:p.R67R;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.C199A:p.R67R;ENSG00000168461:ENST00000578921:exon3:c.C199A:p.R67R;	0.0603377691083389	0.14
18	9792230	C	G	18	9792233	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon3:c.C199G:p.R67G;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.C199G:p.R67G;ENSG00000168461:ENST00000578921:exon3:c.C199G:p.R67G;	0.885119973404715	0.642
18	9792230	C	T	18	9792233	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon3:c.C199T:p.R67W;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.C199T:p.R67W;ENSG00000168461:ENST00000578921:exon3:c.C199T:p.R67W;	0.998935966508828	0.784
18	9792231	G	A	18	9792234	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon3:c.G200A:p.R67Q;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G200A:p.R67Q;ENSG00000168461:ENST00000578921:exon3:c.G200A:p.R67Q;	0.96043144313119	0.632
18	9792231	G	C	18	9792234	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon3:c.G200C:p.R67P;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G200C:p.R67P;ENSG00000168461:ENST00000578921:exon3:c.G200C:p.R67P;	0.989303045403152	0.902
18	9792231	G	T	18	9792234	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon3:c.G200T:p.R67L;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G200T:p.R67L;ENSG00000168461:ENST00000578921:exon3:c.G200T:p.R67L;	0.991246449439132	0.914
18	9792232	G	A	18	9792235	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon3:c.G201A:p.R67R;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G201A:p.R67R;ENSG00000168461:ENST00000578921:exon3:c.G201A:p.R67R;	0.988570708386903	0.624
18	9792232	G	C	18	9792235	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon3:c.G201C:p.R67R;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G201C:p.R67R;ENSG00000168461:ENST00000578921:exon3:c.G201C:p.R67R;	0.997685640240076	0.67
18	9792232	G	T	18	9792235	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon3:c.G201T:p.R67R;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000581109:exon3:c.G201T:p.R67R;ENSG00000168461:ENST00000578921:exon3:c.G201T:p.R67R;	0.98416936775553	0.552
18	9792233	G	A	18	9792236	y	y	splicing	RAB31(NM_006868:exon3:c.201+1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.201+1G>A;ENST00000578734:exon2:c.121+1G>A;ENST00000581109:exon3:c.201+1G>A)	.	.	0.999949496871441	0.932
18	9792233	G	C	18	9792236	y	y	splicing	RAB31(NM_006868:exon3:c.201+1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.201+1G>C;ENST00000578734:exon2:c.121+1G>C;ENST00000581109:exon3:c.201+1G>C)	.	.	0.999949496871441	0.936
18	9792233	G	T	18	9792236	y	y	splicing	RAB31(NM_006868:exon3:c.201+1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.201+1G>T;ENST00000578734:exon2:c.121+1G>T;ENST00000581109:exon3:c.201+1G>T)	.	.	0.999949496871441	0.932
18	9792234	T	A	18	9792237	y	y	splicing	RAB31(NM_006868:exon3:c.201+2T>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.201+2T>A;ENST00000578734:exon2:c.121+2T>A;ENST00000581109:exon3:c.201+2T>A)	.	.	0.99994568797423	0.942
18	9792234	T	C	18	9792237	y	y	splicing	RAB31(NM_006868:exon3:c.201+2T>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.201+2T>C;ENST00000578734:exon2:c.121+2T>C;ENST00000581109:exon3:c.201+2T>C)	.	.	0.999624065594534	0.924
18	9792234	T	G	18	9792237	y	y	splicing	RAB31(NM_006868:exon3:c.201+2T>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon3:c.201+2T>G;ENST00000578734:exon2:c.121+2T>G;ENST00000581109:exon3:c.201+2T>G)	.	.	0.99994568797423	0.948
18	9792235	G	A	18	9792238	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.41183256710196E-5	0.002
18	9792235	G	C	18	9792238	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.401201817404143	0.502
18	9792235	G	T	18	9792238	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.707973199332392	0.466
18	9792236	A	C	18	9792239	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.87941147981601	0.618
18	9792236	A	G	18	9792239	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.984487623841685	0.688
18	9792236	A	T	18	9792239	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.99615179833951	0.754
18	9792237	G	A	18	9792240	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999895896166542	0.972
18	9792237	G	C	18	9792240	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999964820226081	0.928
18	9792237	G	T	18	9792240	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999914178379577	0.904
18	9792238	T	A	18	9792241	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.115679474476939	0.14
18	9792238	T	C	18	9792241	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.048796282246289	0.174
18	9792238	T	G	18	9792241	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00996633896324991	0.068
18	9792239	A	C	18	9792242	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.83207216097928E-5	0.008
18	9792239	A	G	18	9792242	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.21945423870775E-5	0.0
18	9792239	A	T	18	9792242	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.88051249099532E-5	0.004
18	9792240	T	A	18	9792243	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.07485282926372E-5	0.0
18	9792240	T	C	18	9792243	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.40498323513301E-5	0.0
18	9792240	T	G	18	9792243	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.55577791009709E-5	0.0
18	9814005	G	A	18	9814008	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.14919423976075E-4	0.052
18	9814005	G	C	18	9814008	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.20222700690945E-5	0.0
18	9814005	G	T	18	9814008	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.87951578804854E-5	0.016
18	9814006	T	A	18	9814009	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.998498625005872	0.892
18	9814006	T	C	18	9814009	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.569025116504808	0.506
18	9814006	T	G	18	9814009	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.993974639955301	0.852
18	9814007	T	A	18	9814010	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.994859676137141	0.684
18	9814007	T	C	18	9814010	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.48363887621416E-4	0.084
18	9814007	T	G	18	9814010	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.749809858543814	0.506
18	9814008	C	A	18	9814011	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.47559995498953E-4	0.19
18	9814008	C	G	18	9814011	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.0437337478368E-4	0.152
18	9814008	C	T	18	9814011	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.58197251979929E-6	0.02
18	9814009	T	A	18	9814012	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0526909472761602	0.328
18	9814009	T	C	18	9814012	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.26896436525461E-4	0.078
18	9814009	T	G	18	9814012	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0350418535465548	0.32
18	9814010	T	A	18	9814013	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.447844193582067	0.536
18	9814010	T	C	18	9814013	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.69596335313517E-4	0.064
18	9814010	T	G	18	9814013	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.33148647371597	0.388
18	9814011	A	C	18	9814014	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.22983407588907E-5	0.0
18	9814011	A	G	18	9814014	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.52760792322483E-5	0.0
18	9814011	A	T	18	9814014	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.2748058611412E-5	0.006
18	9814012	A	C	18	9814015	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.26534859974957E-5	0.07
18	9814012	A	G	18	9814015	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.997791484616664	0.92
18	9814012	A	T	18	9814015	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.98059049070833E-5	0.086
18	9814013	A	C	18	9814016	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.75412697937418E-5	0.12
18	9814013	A	G	18	9814016	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999377407526389	0.95
18	9814013	A	T	18	9814016	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00161119666923801	0.042
18	9814014	C	A	18	9814017	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999932170420222	0.932
18	9814014	C	G	18	9814017	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999951764250896	0.932
18	9814014	C	T	18	9814017	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.601739935381585	0.122
18	9814015	A	C	18	9814018	y	y	splicing	RAB31(NM_006868:exon4:c.202-2A>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.202-2A>C;ENST00000578734:exon3:c.122-2A>C)	.	.	0.999986741007567	0.944
18	9814015	A	G	18	9814018	y	y	splicing	RAB31(NM_006868:exon4:c.202-2A>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.202-2A>G;ENST00000578734:exon3:c.122-2A>G)	.	.	0.999986741007567	0.946
18	9814015	A	T	18	9814018	y	y	splicing	RAB31(NM_006868:exon4:c.202-2A>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.202-2A>T;ENST00000578734:exon3:c.122-2A>T)	.	.	0.999986741007567	0.946
18	9814016	G	A	18	9814019	y	y	splicing	RAB31(NM_006868:exon4:c.202-1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.202-1G>A;ENST00000578734:exon3:c.122-1G>A)	.	.	0.999989125585301	0.944
18	9814016	G	C	18	9814019	y	y	splicing	RAB31(NM_006868:exon4:c.202-1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.202-1G>C;ENST00000578734:exon3:c.122-1G>C)	.	.	0.999989125585301	0.944
18	9814016	G	T	18	9814019	y	y	splicing	RAB31(NM_006868:exon4:c.202-1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.202-1G>T;ENST00000578734:exon3:c.122-1G>T)	.	.	0.999989125585301	0.944
18	9814017	T	A	18	9814020	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.T202A:p.F68I;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.T202A:p.F68I;	0.784524592277634	0.73
18	9814017	T	C	18	9814020	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.T202C:p.F68L;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.T202C:p.F68L;	0.947644335363706	0.616
18	9814017	T	G	18	9814020	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.T202G:p.F68V;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.T202G:p.F68V;	0.822062366215013	0.588
18	9814018	T	A	18	9814021	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.T203A:p.F68Y;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.T203A:p.F68Y;	0.0108558819209478	0.18
18	9814018	T	C	18	9814021	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.T203C:p.F68S;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.T203C:p.F68S;	0.908731735292493	0.506
18	9814018	T	G	18	9814021	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.T203G:p.F68C;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.T203G:p.F68C;	0.91319745142119	0.506
18	9814086	C	A	18	9814089	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.C271A:p.Q91K;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.C271A:p.Q91K;	0.744623101623734	0.588
18	9814086	C	G	18	9814089	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.C271G:p.Q91E;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.C271G:p.Q91E;	0.0228121150301975	0.104
18	9814086	C	T	18	9814089	y	y	exonic	RAB31	stopgain SNV	RAB31:NM_006868:exon4:c.C271T:p.Q91X;	exonic	ENSG00000168461	stopgain SNV	ENSG00000168461:ENST00000578921:exon4:c.C271T:p.Q91X;	0.998853986230212	0.804
18	9814087	A	C	18	9814090	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.A272C:p.Q91P;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.A272C:p.Q91P;	0.258309146743745	0.448
18	9814087	A	G	18	9814090	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.A272G:p.Q91R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.A272G:p.Q91R;	0.90246731297131	0.652
18	9814087	A	T	18	9814090	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.A272T:p.Q91L;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.A272T:p.Q91L;	0.944397104833393	0.538
18	9814088	G	A	18	9814091	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon4:c.G273A:p.Q91Q;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.G273A:p.Q91Q;	0.998140106136088	0.856
18	9814088	G	C	18	9814091	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.G273C:p.Q91H;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.G273C:p.Q91H;	0.999955206869208	0.952
18	9814088	G	T	18	9814091	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon4:c.G273T:p.Q91H;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon4:c.G273T:p.Q91H;	0.999929845487763	0.962
18	9814089	G	A	18	9814092	y	y	splicing	RAB31(NM_006868:exon4:c.273+1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.273+1G>A;ENST00000578734:exon3:c.193+1G>A)	.	.	0.999990361384395	0.938
18	9814089	G	C	18	9814092	y	y	splicing	RAB31(NM_006868:exon4:c.273+1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.273+1G>C;ENST00000578734:exon3:c.193+1G>C)	.	.	0.999982737877662	0.938
18	9814089	G	T	18	9814092	y	y	splicing	RAB31(NM_006868:exon4:c.273+1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.273+1G>T;ENST00000578734:exon3:c.193+1G>T)	.	.	0.999982737877662	0.936
18	9814090	T	A	18	9814093	y	y	splicing	RAB31(NM_006868:exon4:c.273+2T>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.273+2T>A;ENST00000578734:exon3:c.193+2T>A)	.	.	0.999978952611685	0.928
18	9814090	T	C	18	9814093	y	y	splicing	RAB31(NM_006868:exon4:c.273+2T>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.273+2T>C;ENST00000578734:exon3:c.193+2T>C)	.	.	0.985124993549982	0.702
18	9814090	T	G	18	9814093	y	y	splicing	RAB31(NM_006868:exon4:c.273+2T>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon4:c.273+2T>G;ENST00000578734:exon3:c.193+2T>G)	.	.	0.99994568797423	0.93
18	9814091	A	C	18	9814094	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.953662283658377	0.728
18	9814091	A	G	18	9814094	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00431407922184024	0.146
18	9814091	A	T	18	9814094	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.965783094707357	0.624
18	9814092	A	C	18	9814095	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.241724931926629	0.28
18	9814092	A	G	18	9814095	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.548221090113053	0.334
18	9814092	A	T	18	9814095	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.125722184188322	0.26
18	9814093	G	A	18	9814096	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.992896238775064	0.632
18	9814093	G	C	18	9814096	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.944614168981079	0.634
18	9814093	G	T	18	9814096	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.964294401755269	0.542
18	9814094	A	C	18	9814097	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.79009162542416E-5	0.016
18	9814094	A	G	18	9814097	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.63469077117852E-5	0.0
18	9814094	A	T	18	9814097	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.48276886757921E-5	0.0
18	9814095	A	C	18	9814098	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.48921740173532E-5	0.0
18	9814095	A	G	18	9814098	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.27860893968845E-5	0.0
18	9814095	A	T	18	9814098	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.44820038692028E-4	0.0
18	9814096	T	A	18	9814099	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.64677722929178E-5	0.0
18	9814096	T	C	18	9814099	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.25750359445004E-5	0.0
18	9814096	T	G	18	9814099	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.48383415637187E-5	0.002
18	9815101	C	A	18	9815104	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.91444893336773E-4	0.116
18	9815101	C	G	18	9815104	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.99934843479319	0.96
18	9815101	C	T	18	9815104	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.13909678422375E-4	0.016
18	9815102	T	A	18	9815105	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999962731312964	0.936
18	9815102	T	C	18	9815105	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0120374182578812	0.282
18	9815102	T	G	18	9815105	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.693160033422636	0.572
18	9815103	G	A	18	9815106	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.32509956510388E-4	0.066
18	9815103	G	C	18	9815106	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.76388526989149E-5	0.02
18	9815103	G	T	18	9815106	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.76388526989149E-5	0.006
18	9815104	T	A	18	9815107	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.946583385189566	0.806
18	9815104	T	C	18	9815107	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.103709202375007	0.26
18	9815104	T	G	18	9815107	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.948563002400666	0.766
18	9815105	T	A	18	9815108	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999692745443378	0.932
18	9815105	T	C	18	9815108	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.01424313537298E-5	0.016
18	9815105	T	G	18	9815108	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.74839765050268E-4	0.134
18	9815106	G	A	18	9815109	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999119883596145	0.932
18	9815106	G	C	18	9815109	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.49471964514012E-5	0.03
18	9815106	G	T	18	9815109	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.49471964514012E-5	0.05
18	9815107	G	A	18	9815110	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.86290365717175E-4	0.054
18	9815107	G	C	18	9815110	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.44248969813696E-5	0.002
18	9815107	G	T	18	9815110	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.0183432786507E-5	0.002
18	9815108	T	A	18	9815111	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.373736578066819	0.546
18	9815108	T	C	18	9815111	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00668796910313385	0.226
18	9815108	T	G	18	9815111	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.793672984116363	0.616
18	9815109	T	A	18	9815112	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00339325655713276	0.062
18	9815109	T	C	18	9815112	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.05523647851923E-4	0.08
18	9815109	T	G	18	9815112	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00401917207790447	0.074
18	9815110	T	A	18	9815113	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.149797515423255	0.412
18	9815110	T	C	18	9815113	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.10000275118252E-4	0.078
18	9815110	T	G	18	9815113	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.973879461240658	0.768
18	9815111	A	C	18	9815114	y	y	splicing	RAB31(NM_006868:exon5:c.274-2A>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.274-2A>C;ENST00000578734:exon4:c.194-2A>C)	.	.	0.999979394981131	0.912
18	9815111	A	G	18	9815114	y	y	splicing	RAB31(NM_006868:exon5:c.274-2A>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.274-2A>G;ENST00000578734:exon4:c.194-2A>G)	.	.	0.999979394981131	0.912
18	9815111	A	T	18	9815114	y	y	splicing	RAB31(NM_006868:exon5:c.274-2A>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.274-2A>T;ENST00000578734:exon4:c.194-2A>T)	.	.	0.999979394981131	0.914
18	9815112	G	A	18	9815115	y	y	splicing	RAB31(NM_006868:exon5:c.274-1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.274-1G>A;ENST00000578734:exon4:c.194-1G>A)	.	.	0.999982627682474	0.91
18	9815112	G	C	18	9815115	y	y	splicing	RAB31(NM_006868:exon5:c.274-1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.274-1G>C;ENST00000578734:exon4:c.194-1G>C)	.	.	0.999982627682474	0.908
18	9815112	G	T	18	9815115	y	y	splicing	RAB31(NM_006868:exon5:c.274-1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.274-1G>T;ENST00000578734:exon4:c.194-1G>T)	.	.	0.999982627682474	0.908
18	9815113	G	A	18	9815116	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.G274A:p.D92N;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.G274A:p.D92N;	0.999712947892101	0.94
18	9815113	G	C	18	9815116	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.G274C:p.D92H;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.G274C:p.D92H;	0.999791015561786	0.956
18	9815113	G	T	18	9815116	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.G274T:p.D92Y;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.G274T:p.D92Y;	0.999855692980288	0.984
18	9815114	A	C	18	9815117	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.A275C:p.D92A;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.A275C:p.D92A;	0.444964700026956	0.594
18	9815114	A	G	18	9815117	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.A275G:p.D92G;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.A275G:p.D92G;	0.934368423486219	0.646
18	9815114	A	T	18	9815117	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.A275T:p.D92V;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.A275T:p.D92V;	0.917229775798227	0.722
18	9815217	T	A	18	9815220	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon5:c.T378A:p.I126I;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.T378A:p.I126I;	2.91691111886944E-5	0.002
18	9815217	T	C	18	9815220	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon5:c.T378C:p.I126I;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.T378C:p.I126I;	3.13357849544231E-5	0.002
18	9815217	T	G	18	9815220	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.T378G:p.I126M;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.T378G:p.I126M;	5.65199682114038E-5	0.024
18	9815218	A	C	18	9815221	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon5:c.A379C:p.R127R;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.A379C:p.R127R;	0.342206342623398	0.642
18	9815218	A	G	18	9815221	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.A379G:p.R127G;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.A379G:p.R127G;	0.686684279849772	0.62
18	9815218	A	T	18	9815221	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.A379T:p.R127W;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.A379T:p.R127W;	0.65816720120109	0.64
18	9815219	G	A	18	9815222	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.G380A:p.R127K;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.G380A:p.R127K;	0.999985484517452	0.998
18	9815219	G	C	18	9815222	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.G380C:p.R127T;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.G380C:p.R127T;	0.999992690450583	0.984
18	9815219	G	T	18	9815222	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon5:c.G380T:p.R127M;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon5:c.G380T:p.R127M;	0.999985941491231	0.98
18	9815220	G	A	18	9815223	y	y	splicing	RAB31(NM_006868:exon5:c.380+1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.380+1G>A;ENST00000578734:exon4:c.300+1G>A)	.	.	0.999990361384395	0.938
18	9815220	G	C	18	9815223	y	y	splicing	RAB31(NM_006868:exon5:c.380+1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.380+1G>C;ENST00000578734:exon4:c.300+1G>C)	.	.	0.999990361384395	0.938
18	9815220	G	T	18	9815223	y	y	splicing	RAB31(NM_006868:exon5:c.380+1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.380+1G>T;ENST00000578734:exon4:c.300+1G>T)	.	.	0.999990361384395	0.938
18	9815221	T	A	18	9815224	y	y	splicing	RAB31(NM_006868:exon5:c.380+2T>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.380+2T>A;ENST00000578734:exon4:c.300+2T>A)	.	.	0.999988247793601	0.928
18	9815221	T	C	18	9815224	y	y	splicing	RAB31(NM_006868:exon5:c.380+2T>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.380+2T>C;ENST00000578734:exon4:c.300+2T>C)	.	.	0.995798742345854	0.7
18	9815221	T	G	18	9815224	y	y	splicing	RAB31(NM_006868:exon5:c.380+2T>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon5:c.380+2T>G;ENST00000578734:exon4:c.300+2T>G)	.	.	0.999988247793601	0.928
18	9815222	A	C	18	9815225	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.99274139881547	0.878
18	9815222	A	G	18	9815225	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.196332710512631	0.49
18	9815222	A	T	18	9815225	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.997126568436628	0.882
18	9815223	A	C	18	9815226	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.830379093842229	0.48
18	9815223	A	G	18	9815226	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.714600469026058	0.474
18	9815223	A	T	18	9815226	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.490810302508526	0.438
18	9815224	G	A	18	9815227	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.993268397458493	0.85
18	9815224	G	C	18	9815227	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.993843463546256	0.826
18	9815224	G	T	18	9815227	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.990930439409011	0.728
18	9815225	A	C	18	9815228	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.53686422664763E-5	0.01
18	9815225	A	G	18	9815228	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.38011890488073E-5	0.0
18	9815225	A	T	18	9815228	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.29813102614474E-5	0.0
18	9815226	T	A	18	9815229	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.17727136328101E-5	0.0
18	9815226	T	C	18	9815229	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.09105271056891E-5	0.0
18	9815226	T	G	18	9815229	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.09105271056891E-5	0.0
18	9815227	G	A	18	9815230	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.40138300680424E-5	0.0
18	9815227	G	C	18	9815230	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.40138300680424E-5	0.0
18	9815227	G	T	18	9815230	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.01029157003238E-4	0.002
18	9845567	C	A	18	9845570	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00654071027863226	0.058
18	9845567	C	G	18	9845570	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.997925231851861	0.94
18	9845567	C	T	18	9845570	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.11466420598837E-4	0.032
18	9845568	C	A	18	9845571	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.94023343201602E-4	0.034
18	9845568	C	G	18	9845571	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.30756004348413E-4	0.024
18	9845568	C	T	18	9845571	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.90355218047414E-5	0.0
18	9845569	T	A	18	9845572	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.997924723326692	0.91
18	9845569	T	C	18	9845572	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0395177769326822	0.384
18	9845569	T	G	18	9845572	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.996186912556228	0.88
18	9845570	C	A	18	9845573	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00396820434644882	0.08
18	9845570	C	G	18	9845573	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00750876818277227	0.128
18	9845570	C	T	18	9845573	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00990996147116793	0.172
18	9845571	T	A	18	9845574	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0578567701347584	0.338
18	9845571	T	C	18	9845574	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00288749863439412	0.014
18	9845571	T	G	18	9845574	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0256400757423243	0.288
18	9845572	T	A	18	9845575	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0603404207203261	0.34
18	9845572	T	C	18	9845575	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.50107993726902E-4	0.03
18	9845572	T	G	18	9845575	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.12004049191872	0.336
18	9845573	T	A	18	9845576	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.977646319867785	0.812
18	9845573	T	C	18	9845576	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00168230174483598	0.074
18	9845573	T	G	18	9845576	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.963917606789768	0.822
18	9845574	T	A	18	9845577	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.383444509016586	0.58
18	9845574	T	C	18	9845577	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00714145707608842	0.092
18	9845574	T	G	18	9845577	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.47579576281636	0.652
18	9845575	C	A	18	9845578	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.45341438536792E-5	0.0
18	9845575	C	G	18	9845578	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.68081856027664E-5	0.0
18	9845575	C	T	18	9845578	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.16039994661837E-5	0.004
18	9845576	C	A	18	9845579	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.715874885064996	0.688
18	9845576	C	G	18	9845579	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999839050144715	0.928
18	9845576	C	T	18	9845579	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.022326859574232	0.072
18	9845577	A	C	18	9845580	y	y	splicing	RAB31(NM_006868:exon6:c.381-2A>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.381-2A>C;ENST00000578734:exon5:c.301-2A>C;ENST00000581109:exon4:c.202-2A>C)	.	.	0.999992752818502	0.926
18	9845577	A	G	18	9845580	y	y	splicing	RAB31(NM_006868:exon6:c.381-2A>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.381-2A>G;ENST00000578734:exon5:c.301-2A>G;ENST00000581109:exon4:c.202-2A>G)	.	.	0.999992752818502	0.926
18	9845577	A	T	18	9845580	y	y	splicing	RAB31(NM_006868:exon6:c.381-2A>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.381-2A>T;ENST00000578734:exon5:c.301-2A>T;ENST00000581109:exon4:c.202-2A>T)	.	.	0.999992752818502	0.926
18	9845578	G	A	18	9845581	y	y	splicing	RAB31(NM_006868:exon6:c.381-1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.381-1G>A;ENST00000578734:exon5:c.301-1G>A;ENST00000581109:exon4:c.202-1G>A)	.	.	0.999981760802075	0.938
18	9845578	G	C	18	9845581	y	y	splicing	RAB31(NM_006868:exon6:c.381-1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.381-1G>C;ENST00000578734:exon5:c.301-1G>C;ENST00000581109:exon4:c.202-1G>C)	.	.	0.999981760802075	0.936
18	9845578	G	T	18	9845581	y	y	splicing	RAB31(NM_006868:exon6:c.381-1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.381-1G>T;ENST00000578734:exon5:c.301-1G>T;ENST00000581109:exon4:c.202-1G>T)	.	.	0.999981760802075	0.938
18	9845579	G	A	18	9845582	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon6:c.G381A:p.R127R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon4:c.G202A:p.G68R;	0.00926704022964431	0.112
18	9845579	G	C	18	9845582	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.G381C:p.R127S;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon4:c.G202C:p.G68R;ENSG00000168461:ENST00000578921:exon6:c.G381C:p.R127S;	0.756792709151539	0.496
18	9845579	G	T	18	9845582	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.G381T:p.R127S;	exonic	ENSG00000168461	stopgain SNV	ENSG00000168461:ENST00000581109:exon4:c.G202T:p.G68X;	0.981921822090475	0.678
18	9845580	G	A	18	9845583	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.G382A:p.E128K;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon4:c.G203A:p.G68E;ENSG00000168461:ENST00000578921:exon6:c.G382A:p.E128K;	0.885419725651689	0.802
18	9845580	G	C	18	9845583	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.G382C:p.E128Q;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000581109:exon4:c.G203C:p.G68A;ENSG00000168461:ENST00000578921:exon6:c.G382C:p.E128Q;	0.903647594240574	0.778
18	9845580	G	T	18	9845583	y	y	exonic	RAB31	stopgain SNV	RAB31:NM_006868:exon6:c.G382T:p.E128X;	exonic	ENSG00000168461	stopgain SNV	ENSG00000168461:ENST00000578921:exon6:c.G382T:p.E128X;	0.946730783940687	0.912
18	9845686	T	A	18	9845689	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.T488A:p.I163N;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.T488A:p.I163N;	0.452200914605468	0.68
18	9845686	T	C	18	9845689	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.T488C:p.I163T;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.T488C:p.I163T;	0.452200914605468	0.66
18	9845686	T	G	18	9845689	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.T488G:p.I163S;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.T488G:p.I163S;	0.413325142919789	0.762
18	9845687	C	A	18	9845690	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon6:c.C489A:p.I163I;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.C489A:p.I163I;	0.133302118530889	0.308
18	9845687	C	G	18	9845690	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.C489G:p.I163M;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.C489G:p.I163M;	0.957358064443786	0.82
18	9845687	C	T	18	9845690	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon6:c.C489T:p.I163I;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.C489T:p.I163I;	0.562326786870996	0.49
18	9845688	A	C	18	9845691	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.A490C:p.S164R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.A490C:p.S164R;	0.317954106992572	0.752
18	9845688	A	G	18	9845691	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.A490G:p.S164G;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.A490G:p.S164G;	0.160680262673633	0.354
18	9845688	A	T	18	9845691	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon6:c.A490T:p.S164C;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon6:c.A490T:p.S164C;	0.319580376318928	0.654
18	9845689	G	A	18	9845692	y	y	splicing	RAB31(NM_006868:exon6:c.490+1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.490+1G>A;ENST00000578734:exon5:c.410+1G>A;ENST00000581109:exon4:c.311+1G>A)	.	.	0.999981760802075	0.938
18	9845689	G	C	18	9845692	y	y	splicing	RAB31(NM_006868:exon6:c.490+1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.490+1G>C;ENST00000578734:exon5:c.410+1G>C;ENST00000581109:exon4:c.311+1G>C)	.	.	0.999981760802075	0.938
18	9845689	G	T	18	9845692	y	y	splicing	RAB31(NM_006868:exon6:c.490+1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.490+1G>T;ENST00000578734:exon5:c.410+1G>T;ENST00000581109:exon4:c.311+1G>T)	.	.	0.999981760802075	0.938
18	9845690	T	A	18	9845693	y	y	splicing	RAB31(NM_006868:exon6:c.490+2T>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.490+2T>A;ENST00000578734:exon5:c.410+2T>A;ENST00000581109:exon4:c.311+2T>A)	.	.	0.999992752818502	0.928
18	9845690	T	C	18	9845693	y	y	splicing	RAB31(NM_006868:exon6:c.490+2T>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.490+2T>C;ENST00000578734:exon5:c.410+2T>C;ENST00000581109:exon4:c.311+2T>C)	.	.	0.998772001988174	0.824
18	9845690	T	G	18	9845693	y	y	splicing	RAB31(NM_006868:exon6:c.490+2T>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon6:c.490+2T>G;ENST00000578734:exon5:c.410+2T>G;ENST00000581109:exon4:c.311+2T>G)	.	.	0.999992752818502	0.928
18	9845691	A	C	18	9845694	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999711613707826	0.918
18	9845691	A	G	18	9845694	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0130764796088052	0.204
18	9845691	A	T	18	9845694	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999708930696664	0.92
18	9845692	A	C	18	9845695	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999529189510471	0.93
18	9845692	A	G	18	9845695	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.998739600326601	0.97
18	9845692	A	T	18	9845695	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.99886547431051	0.95
18	9845693	G	A	18	9845696	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999976740765245	0.998
18	9845693	G	C	18	9845696	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999956941176677	0.992
18	9845693	G	T	18	9845696	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999939980594152	0.982
18	9845694	T	A	18	9845697	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.997031283422406	0.788
18	9845694	T	C	18	9845697	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.998583838022469	0.92
18	9845694	T	G	18	9845697	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.996998187392487	0.892
18	9845695	A	C	18	9845698	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.19950396226832E-4	0.008
18	9845695	A	G	18	9845698	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.3912800680215E-4	0.008
18	9845695	A	T	18	9845698	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00200115094414422	0.036
18	9845696	C	A	18	9845699	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.33140970015776E-4	0.028
18	9845696	C	G	18	9845699	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.75851111702489E-4	0.024
18	9845696	C	T	18	9845699	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	6.97742345937373E-4	0.006
18	9859213	T	A	18	9859216	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.55820563589863E-4	0.086
18	9859213	T	C	18	9859216	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.66377962932122E-5	0.002
18	9859213	T	G	18	9859216	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.76410502193654E-4	0.05
18	9859214	T	A	18	9859217	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00166793440540348	0.184
18	9859214	T	C	18	9859217	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.64444130994447E-4	0.044
18	9859214	T	G	18	9859217	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.67454382785096E-4	0.154
18	9859215	T	A	18	9859218	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00276055518103716	0.086
18	9859215	T	C	18	9859218	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	8.60677353269404E-5	0.004
18	9859215	T	G	18	9859218	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.92350571138359E-4	0.092
18	9859216	T	A	18	9859219	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.38638793952866E-5	0.03
18	9859216	T	C	18	9859219	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.17371297369208E-5	0.0
18	9859216	T	G	18	9859219	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	5.27538100555419E-5	0.028
18	9859217	T	A	18	9859220	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.999586063553838	0.986
18	9859217	T	C	18	9859220	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.99034662008558E-5	0.0
18	9859217	T	G	18	9859220	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.23166547191593E-4	0.044
18	9859218	G	A	18	9859221	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	7.96659151910522E-5	0.02
18	9859218	G	C	18	9859221	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.22455156873883E-5	0.004
18	9859218	G	T	18	9859221	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.84652278608077E-5	0.0
18	9859219	T	A	18	9859222	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00454620315585544	0.184
18	9859219	T	C	18	9859222	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	4.45871708452551E-4	0.02
18	9859219	T	G	18	9859222	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00483593919330395	0.152
18	9859220	T	A	18	9859223	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.998326252674325	0.882
18	9859220	T	C	18	9859223	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.00481573934030685	0.048
18	9859220	T	G	18	9859223	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.0310751874525178	0.332
18	9859221	G	A	18	9859224	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	3.75455956649063E-5	0.0
18	9859221	G	C	18	9859224	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	9.83637607347376E-6	0.002
18	9859221	G	T	18	9859224	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	2.63723878246951E-5	0.0
18	9859222	C	A	18	9859225	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.134042750348874	0.21
18	9859222	C	G	18	9859225	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	0.987463086718179	0.61
18	9859222	C	T	18	9859225	y	y	intronic	RAB31	.	.	intronic	ENSG00000168461	.	.	1.41536949097465E-4	0.076
18	9859223	A	C	18	9859226	y	y	splicing	RAB31(NM_006868:exon7:c.491-2A>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon7:c.491-2A>C;ENST00000578734:exon6:c.411-2A>C;ENST00000581109:exon5:c.312-2A>C)	.	.	0.999893588078984	0.85
18	9859223	A	G	18	9859226	y	y	splicing	RAB31(NM_006868:exon7:c.491-2A>G)	.	.	splicing	ENSG00000168461(ENST00000578921:exon7:c.491-2A>G;ENST00000578734:exon6:c.411-2A>G;ENST00000581109:exon5:c.312-2A>G)	.	.	0.999893588078984	0.85
18	9859223	A	T	18	9859226	y	y	splicing	RAB31(NM_006868:exon7:c.491-2A>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon7:c.491-2A>T;ENST00000578734:exon6:c.411-2A>T;ENST00000581109:exon5:c.312-2A>T)	.	.	0.999893588078984	0.874
18	9859224	G	A	18	9859227	y	y	splicing	RAB31(NM_006868:exon7:c.491-1G>A)	.	.	splicing	ENSG00000168461(ENST00000578921:exon7:c.491-1G>A;ENST00000578734:exon6:c.411-1G>A;ENST00000581109:exon5:c.312-1G>A)	.	.	0.999949496871441	0.934
18	9859224	G	C	18	9859227	y	y	splicing	RAB31(NM_006868:exon7:c.491-1G>C)	.	.	splicing	ENSG00000168461(ENST00000578921:exon7:c.491-1G>C;ENST00000578734:exon6:c.411-1G>C;ENST00000581109:exon5:c.312-1G>C)	.	.	0.999949496871441	0.942
18	9859224	G	T	18	9859227	y	y	splicing	RAB31(NM_006868:exon7:c.491-1G>T)	.	.	splicing	ENSG00000168461(ENST00000578921:exon7:c.491-1G>T;ENST00000578734:exon6:c.411-1G>T;ENST00000581109:exon5:c.312-1G>T)	.	.	0.999949496871441	0.942
18	9859225	G	A	18	9859228	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon7:c.G491A:p.S164N;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon7:c.G491A:p.S164N;	0.9986701443555	0.81
18	9859225	G	C	18	9859228	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon7:c.G491C:p.S164T;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon7:c.G491C:p.S164T;	0.998860991801451	0.84
18	9859225	G	T	18	9859228	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon7:c.G491T:p.S164I;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon7:c.G491T:p.S164I;	0.999804211578626	0.956
18	9859226	C	A	18	9859229	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon7:c.C492A:p.S164R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon7:c.C492A:p.S164R;	3.31550782713705E-4	0.14
18	9859226	C	G	18	9859229	y	y	exonic	RAB31	nonsynonymous SNV	RAB31:NM_006868:exon7:c.C492G:p.S164R;	exonic	ENSG00000168461	nonsynonymous SNV	ENSG00000168461:ENST00000578921:exon7:c.C492G:p.S164R;	2.70599464896723E-4	0.116
18	9859226	C	T	18	9859229	y	y	exonic	RAB31	synonymous SNV	RAB31:NM_006868:exon7:c.C492T:p.S164S;	exonic	ENSG00000168461	synonymous SNV	ENSG00000168461:ENST00000578921:exon7:c.C492T:p.S164S;	8.3972457359959E-5	0.006
18	9885882	T	A	18	9885885	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.28051689324516E-4	0.126
18	9885882	T	C	18	9885885	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	8.65778582306901E-5	0.0
18	9885882	T	G	18	9885885	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.13726597090133E-4	0.106
18	9885883	A	C	18	9885886	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.39380137309865E-5	0.0
18	9885883	A	G	18	9885886	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.39380137309865E-5	0.0
18	9885883	A	T	18	9885886	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.39380137309865E-5	0.0
18	9885884	A	C	18	9885887	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	8.55472960422104E-5	0.0
18	9885884	A	G	18	9885887	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.1877777554816E-5	0.0
18	9885884	A	T	18	9885887	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.3779450157057E-4	0.178
18	9885885	G	A	18	9885888	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	2.45277156108894E-5	0.0
18	9885885	G	C	18	9885888	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	2.45277156108894E-5	0.0
18	9885885	G	T	18	9885888	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	2.45277156108894E-5	0.0
18	9885886	T	A	18	9885889	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	6.13350613825342E-6	0.002
18	9885886	T	C	18	9885889	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	6.13350613825342E-6	0.0
18	9885886	T	G	18	9885889	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	6.13350613825342E-6	0.0
18	9885887	G	A	18	9885890	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.93972165730067E-5	0.0
18	9885887	G	C	18	9885890	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.80283194928756E-5	0.0
18	9885887	G	T	18	9885890	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.93972165730067E-5	0.0
18	9885888	A	C	18	9885891	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	6.5908222467397E-5	0.002
18	9885888	A	G	18	9885891	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	6.5908222467397E-5	0.002
18	9885888	A	T	18	9885891	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.07902708129146E-4	0.004
18	9885889	G	A	18	9885892	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.95438596086353E-4	0.038
18	9885889	G	C	18	9885892	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	9.42477121288917E-5	0.038
18	9885889	G	T	18	9885892	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	9.42477121288917E-5	0.038
18	9885890	C	A	18	9885893	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.69930370103191E-5	0.002
18	9885890	C	G	18	9885893	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.69930370103191E-5	0.002
18	9885890	C	T	18	9885893	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.69930370103191E-5	0.002
18	9885891	T	A	18	9885894	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	5.40839623268995E-5	0.002
18	9885891	T	C	18	9885894	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	5.40839623268995E-5	0.002
18	9885891	T	G	18	9885894	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	5.40839623268995E-5	0.002
18	9885892	A	C	18	9885895	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.90066968634554E-5	0.002
18	9885892	A	G	18	9885895	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.90066968634554E-5	0.002
18	9885892	A	T	18	9885895	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.90066968634554E-5	0.006
18	9885947	G	A	18	9885950	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	0.00170074539040705	0.038
18	9885947	G	C	18	9885950	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	0.00170074539040705	0.04
18	9885947	G	T	18	9885950	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	0.00170074539040705	0.036
18	9885948	T	A	18	9885951	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.07620641825897E-5	0.0
18	9885948	T	C	18	9885951	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.07620641825897E-5	0.0
18	9885948	T	G	18	9885951	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.07620641825897E-5	0.0
18	9885949	T	A	18	9885952	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	4.64726965068443E-5	0.0
18	9885949	T	C	18	9885952	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	6.21441922682638E-5	0.004
18	9885949	T	G	18	9885952	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	6.21441922682638E-5	0.004
18	9885950	G	A	18	9885953	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	6.05670308788612E-5	0.012
18	9885950	G	C	18	9885953	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.55166398316256E-5	0.012
18	9885950	G	T	18	9885953	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	6.05670308788612E-5	0.012
18	9885951	T	A	18	9885954	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.61811153049764E-5	0.0
18	9885951	T	C	18	9885954	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.61811153049764E-5	0.0
18	9885951	T	G	18	9885954	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.61811153049764E-5	0.0
18	9885952	G	A	18	9885955	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.20695034961553E-5	0.008
18	9885952	G	C	18	9885955	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.20695034961553E-5	0.006
18	9885952	G	T	18	9885955	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.20695034961553E-5	0.006
18	9885953	T	A	18	9885956	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.66982619474429E-5	0.006
18	9885953	T	C	18	9885956	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.66982619474429E-5	0.006
18	9885953	T	G	18	9885956	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.66982619474429E-5	0.006
18	9885954	T	A	18	9885957	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.61811153049764E-5	0.006
18	9885954	T	C	18	9885957	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.61811153049764E-5	0.008
18	9885954	T	G	18	9885957	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.61811153049764E-5	0.008
18	9885955	C	A	18	9885958	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.66835578245131E-5	0.036
18	9885955	C	G	18	9885958	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.66835578245131E-5	0.002
18	9885955	C	T	18	9885958	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.33833472525359E-5	0.002
18	9885956	T	A	18	9885959	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.45277156108894E-5	0.004
18	9885956	T	C	18	9885959	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.33833472525359E-5	0.004
18	9885956	T	G	18	9885959	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.33833472525359E-5	0.004
18	9885957	A	C	18	9885960	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	8.44319604211537E-4	0.072
18	9885957	A	G	18	9885960	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	8.44319604211537E-4	0.064
18	9885957	A	T	18	9885960	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	6.31524023438878E-4	0.014
18	9885958	G	A	18	9885961	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	2.08325633601962E-5	0.002
18	9885958	G	C	18	9885961	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	2.08325633601962E-5	0.002
18	9885958	G	T	18	9885961	n	y	UTR5	TXNDC2	.	.	splicing	ENSG00000168454	.	.	2.08325633601962E-5	0.002
18	9885959	G	A	18	9885962	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.74480241737554E-4	0.0
18	9885959	G	C	18	9885962	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.33308296055063E-4	0.028
18	9885959	G	T	18	9885962	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.74480241737554E-4	0.0
18	9885960	A	C	18	9885963	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	4.5794019135856E-5	0.01
18	9885960	A	G	18	9885963	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	4.5794019135856E-5	0.008
18	9885960	A	T	18	9885963	n	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.4245561815328E-5	0.0
18	9886075	A	C	18	9886078	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.9469183429777E-5	0.0
18	9886075	A	G	18	9886078	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.05918261028706E-4	0.0
18	9886075	A	T	18	9886078	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.9469183429777E-5	0.0
18	9886076	A	C	18	9886079	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	5.25211152755068E-5	0.0
18	9886076	A	G	18	9886079	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	6.988547447365E-5	0.0
18	9886076	A	T	18	9886079	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	1.08916309252732E-4	0.0
18	9886077	T	A	18	9886080	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	7.30127177594752E-5	0.0
18	9886077	T	C	18	9886080	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.36057955275112E-5	0.0
18	9886077	T	G	18	9886080	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	6.27477746119029E-5	0.0
18	9886078	G	A	18	9886081	y	y	splicing	TXNDC2	.	.	splicing	ENSG00000168454	.	.	9.06619588578661E-5	0.008
18	9886078	G	C	18	9886081	y	y	splicing	TXNDC2	.	.	splicing	ENSG00000168454	.	.	4.04243866858565E-5	0.0
18	9886078	G	T	18	9886081	y	y	splicing	TXNDC2	.	.	splicing	ENSG00000168454	.	.	4.36187558740154E-5	0.002
18	9886079	T	A	18	9886082	y	y	splicing	TXNDC2	.	.	splicing	ENSG00000168454	.	.	3.72992662986781E-5	0.032
18	9886079	T	C	18	9886082	y	y	splicing	TXNDC2	.	.	splicing	ENSG00000168454	.	.	2.41475658311232E-5	0.032
18	9886079	T	G	18	9886082	y	y	splicing	TXNDC2	.	.	splicing	ENSG00000168454	.	.	2.41475658311232E-5	0.032
18	9886080	A	C	18	9886083	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	5.87347500193166E-5	0.006
18	9886080	A	G	18	9886083	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	5.87347500193166E-5	0.006
18	9886080	A	T	18	9886083	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	8.44167692826415E-5	0.006
18	9886081	A	C	18	9886084	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	7.83708300348738E-5	0.0
18	9886081	A	G	18	9886084	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	7.83708300348738E-5	0.0
18	9886081	A	T	18	9886084	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	7.83708300348738E-5	0.002
18	9886082	G	A	18	9886085	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.69930370103191E-5	0.0
18	9886082	G	C	18	9886085	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.69930370103191E-5	0.0
18	9886082	G	T	18	9886085	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.69930370103191E-5	0.0
18	9886083	T	A	18	9886086	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	7.48293208623238E-5	0.0
18	9886083	T	C	18	9886086	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	7.48293208623238E-5	0.0
18	9886083	T	G	18	9886086	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	7.48293208623238E-5	0.0
18	9886084	T	A	18	9886087	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	9.95416542160471E-5	0.0
18	9886084	T	C	18	9886087	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	8.55472960422104E-5	0.0
18	9886084	T	G	18	9886087	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	8.55472960422104E-5	0.0
18	9886085	T	A	18	9886088	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	2.07841674183357E-4	0.026
18	9886085	T	C	18	9886088	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.01769565671828E-4	0.024
18	9886085	T	G	18	9886088	y	y	UTR5	TXNDC2	.	.	UTR5	ENSG00000168454	.	.	3.86867110297081E-4	0.054
18	9886278	A	C	18	9886281	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon1:c.A107C:p.N36T;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon1:c.A107C:p.N36T;	1.69097776593054E-5	0.0
18	9886278	A	G	18	9886281	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon1:c.A107G:p.N36S;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon1:c.A107G:p.N36S;	3.61553236126818E-5	0.004
18	9886278	A	T	18	9886281	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon1:c.A107T:p.N36I;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon1:c.A107T:p.N36I;	2.47440706053133E-4	0.09
18	9886279	T	A	18	9886282	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon1:c.T108A:p.N36K;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon1:c.T108A:p.N36K;	3.19885279705984E-5	0.08
18	9886279	T	C	18	9886282	y	y	exonic	TXNDC2	synonymous SNV	TXNDC2:NM_001098529:exon1:c.T108C:p.N36N;	exonic	ENSG00000168454	synonymous SNV	ENSG00000168454:ENST00000306084:exon1:c.T108C:p.N36N;	3.30477579161392E-5	0.002
18	9886279	T	G	18	9886282	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon1:c.T108G:p.N36K;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon1:c.T108G:p.N36K;	8.34196516481992E-5	0.0
18	9886280	G	A	18	9886283	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon1:c.G109A:p.E37K;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon1:c.G109A:p.E37K;	0.886940224892944	0.682
18	9886280	G	C	18	9886283	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon1:c.G109C:p.E37Q;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon1:c.G109C:p.E37Q;	0.946546472173073	0.696
18	9886280	G	T	18	9886283	y	y	exonic	TXNDC2	stopgain SNV	TXNDC2:NM_001098529:exon1:c.G109T:p.E37X;	exonic	ENSG00000168454	stopgain SNV	ENSG00000168454:ENST00000306084:exon1:c.G109T:p.E37X;	0.998993212331148	0.968
18	9886281	G	A	18	9886284	y	y	splicing	TXNDC2(NM_001098529:exon1:c.109+1G>A)	.	.	splicing	ENSG00000168454(ENST00000306084:exon1:c.109+1G>A)	.	.	0.99996748057446	0.91
18	9886281	G	C	18	9886284	y	y	splicing	TXNDC2(NM_001098529:exon1:c.109+1G>C)	.	.	splicing	ENSG00000168454(ENST00000306084:exon1:c.109+1G>C)	.	.	0.999968430223941	0.872
18	9886281	G	T	18	9886284	y	y	splicing	TXNDC2(NM_001098529:exon1:c.109+1G>T)	.	.	splicing	ENSG00000168454(ENST00000306084:exon1:c.109+1G>T)	.	.	0.999969242257053	0.906
18	9886282	T	A	18	9886285	y	y	splicing	TXNDC2(NM_001098529:exon1:c.109+2T>A)	.	.	splicing	ENSG00000168454(ENST00000306084:exon1:c.109+2T>A)	.	.	0.999982151912279	0.892
18	9886282	T	C	18	9886285	y	y	splicing	TXNDC2(NM_001098529:exon1:c.109+2T>C)	.	.	splicing	ENSG00000168454(ENST00000306084:exon1:c.109+2T>C)	.	.	0.963185509110192	0.55
18	9886282	T	G	18	9886285	y	y	splicing	TXNDC2(NM_001098529:exon1:c.109+2T>G)	.	.	splicing	ENSG00000168454(ENST00000306084:exon1:c.109+2T>G)	.	.	0.999972871252391	0.876
18	9886283	A	C	18	9886286	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.914789457490419	0.528
18	9886283	A	G	18	9886286	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	8.10199933298324E-4	0.018
18	9886283	A	T	18	9886286	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.499077374843844	0.496
18	9886284	A	C	18	9886287	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.0663249689744849	0.312
18	9886284	A	G	18	9886287	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.121813268422392	0.468
18	9886284	A	T	18	9886287	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.23553409361425	0.448
18	9886285	G	A	18	9886288	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.994172878329801	0.828
18	9886285	G	C	18	9886288	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.998162653555195	0.77
18	9886285	G	T	18	9886288	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.991670047468245	0.76
18	9886286	T	A	18	9886289	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.00158280846446562	0.084
18	9886286	T	C	18	9886289	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.00290370126808883	0.112
18	9886286	T	G	18	9886289	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	4.14103612743381E-4	0.076
18	9886287	A	C	18	9886290	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	1.81474896170976E-5	0.0
18	9886287	A	G	18	9886290	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	4.78992142291779E-5	0.002
18	9886287	A	T	18	9886290	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	5.16842200754555E-5	0.0
18	9886288	G	A	18	9886291	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	3.69930370103191E-5	0.0
18	9886288	G	C	18	9886291	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	3.4887794681632E-5	0.0
18	9886288	G	T	18	9886291	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	3.4887794681632E-5	0.0
18	9886574	T	A	18	9886577	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.0572118502307156	0.324
18	9886574	T	C	18	9886577	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	5.23813461427019E-5	0.0
18	9886574	T	G	18	9886577	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.0321511431713083	0.29
18	9886575	T	A	18	9886578	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.0179267858653655	0.164
18	9886575	T	C	18	9886578	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	2.5070594167061E-4	0.038
18	9886575	T	G	18	9886578	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.0285855942964847	0.25
18	9886576	T	A	18	9886579	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.122405366052357	0.264
18	9886576	T	C	18	9886579	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	2.89200557693487E-4	0.052
18	9886576	T	G	18	9886579	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.0259950394737021	0.258
18	9886577	T	A	18	9886580	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.0188611265996388	0.332
18	9886577	T	C	18	9886580	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	1.61419911131454E-4	0.056
18	9886577	T	G	18	9886580	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.0110668622705106	0.29
18	9886578	T	A	18	9886581	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.995707398292431	0.908
18	9886578	T	C	18	9886581	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	2.95211930231054E-5	0.002
18	9886578	T	G	18	9886581	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.00129509110232567	0.044
18	9886579	G	A	18	9886582	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.997270383135773	0.958
18	9886579	G	C	18	9886582	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	1.12564794294052E-4	0.014
18	9886579	G	T	18	9886582	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	1.11890919723019E-4	0.014
18	9886580	G	A	18	9886583	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	2.42491846961232E-5	0.004
18	9886580	G	C	18	9886583	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	6.37377302574153E-5	0.018
18	9886580	G	T	18	9886583	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	6.60034725817321E-5	0.038
18	9886581	T	A	18	9886584	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.265172498479537	0.422
18	9886581	T	C	18	9886584	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	5.24160314499943E-4	0.122
18	9886581	T	G	18	9886584	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.198830664025713	0.404
18	9886582	A	C	18	9886585	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	6.31877008450447E-5	0.002
18	9886582	A	G	18	9886585	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	9.52157087114349E-5	0.018
18	9886582	A	T	18	9886585	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	4.22328275941318E-5	0.0
18	9886583	C	A	18	9886586	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.931483780803164	0.784
18	9886583	C	G	18	9886586	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	0.999532613236469	0.926
18	9886583	C	T	18	9886586	y	y	intronic	TXNDC2	.	.	intronic	ENSG00000168454	.	.	2.1072717417586E-4	0.072
18	9886584	A	C	18	9886587	y	y	splicing	TXNDC2(NM_001098529:exon2:c.110-2A>C)	.	.	splicing	ENSG00000168454(ENST00000306084:exon2:c.110-2A>C)	.	.	0.999941977319723	0.724
18	9886584	A	G	18	9886587	y	y	splicing	TXNDC2(NM_001098529:exon2:c.110-2A>G)	.	.	splicing	ENSG00000168454(ENST00000306084:exon2:c.110-2A>G)	.	.	0.999941977319723	0.724
18	9886584	A	T	18	9886587	y	y	splicing	TXNDC2(NM_001098529:exon2:c.110-2A>T)	.	.	splicing	ENSG00000168454(ENST00000306084:exon2:c.110-2A>T)	.	.	0.999941977319723	0.736
18	9886585	G	A	18	9886588	y	y	splicing	TXNDC2(NM_001098529:exon2:c.110-1G>A)	.	.	splicing	ENSG00000168454(ENST00000306084:exon2:c.110-1G>A)	.	.	0.99995975981473	0.736
18	9886585	G	C	18	9886588	y	y	splicing	TXNDC2(NM_001098529:exon2:c.110-1G>C)	.	.	splicing	ENSG00000168454(ENST00000306084:exon2:c.110-1G>C)	.	.	0.99995975981473	0.73
18	9886585	G	T	18	9886588	y	y	splicing	TXNDC2(NM_001098529:exon2:c.110-1G>T)	.	.	splicing	ENSG00000168454(ENST00000306084:exon2:c.110-1G>T)	.	.	0.99995975981473	0.732
18	9886586	A	C	18	9886589	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon2:c.A110C:p.E37A;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon2:c.A110C:p.E37A;	0.00416104802036926	0.196
18	9886586	A	G	18	9886589	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon2:c.A110G:p.E37G;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon2:c.A110G:p.E37G;	5.89042893366364E-4	0.008
18	9886586	A	T	18	9886589	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon2:c.A110T:p.E37V;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon2:c.A110T:p.E37V;	0.00926553476147663	0.224
18	9886587	A	C	18	9886590	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon2:c.A111C:p.E37D;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon2:c.A111C:p.E37D;	6.84817058069489E-4	0.01
18	9886587	A	G	18	9886590	y	y	exonic	TXNDC2	synonymous SNV	TXNDC2:NM_001098529:exon2:c.A111G:p.E37E;	exonic	ENSG00000168454	synonymous SNV	ENSG00000168454:ENST00000306084:exon2:c.A111G:p.E37E;	5.71814312272035E-5	0.01
18	9886587	A	T	18	9886590	y	y	exonic	TXNDC2	nonsynonymous SNV	TXNDC2:NM_001098529:exon2:c.A111T:p.E37D;	exonic	ENSG00000168454	nonsynonymous SNV	ENSG00000168454:ENST00000306084:exon2:c.A111T:p.E37D;	2.52638289342577E-4	0.0
18	9914330	A	C	18	9914333	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon1:c.A77C:p.K26T;VAPA:NM_003574:exon1:c.A77C:p.K26T;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.A77C:p.K26T;ENSG00000101558:ENST00000400000:exon1:c.A77C:p.K26T;ENSG00000101558:ENST00000585042:exon1:c.A77C:p.K26T;	0.00303655108321526	0.05
18	9914330	A	G	18	9914333	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon1:c.A77G:p.K26R;VAPA:NM_003574:exon1:c.A77G:p.K26R;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.A77G:p.K26R;ENSG00000101558:ENST00000400000:exon1:c.A77G:p.K26R;ENSG00000101558:ENST00000585042:exon1:c.A77G:p.K26R;	0.00276579204275783	0.16
18	9914330	A	T	18	9914333	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon1:c.A77T:p.K26I;VAPA:NM_003574:exon1:c.A77T:p.K26I;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.A77T:p.K26I;ENSG00000101558:ENST00000400000:exon1:c.A77T:p.K26I;ENSG00000101558:ENST00000585042:exon1:c.A77T:p.K26I;	0.206224172792553	0.462
18	9914331	A	C	18	9914334	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon1:c.A78C:p.K26N;VAPA:NM_003574:exon1:c.A78C:p.K26N;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.A78C:p.K26N;ENSG00000101558:ENST00000400000:exon1:c.A78C:p.K26N;ENSG00000101558:ENST00000585042:exon1:c.A78C:p.K26N;	0.970570933406079	0.794
18	9914331	A	G	18	9914334	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon1:c.A78G:p.K26K;VAPA:NM_003574:exon1:c.A78G:p.K26K;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.A78G:p.K26K;ENSG00000101558:ENST00000400000:exon1:c.A78G:p.K26K;ENSG00000101558:ENST00000585042:exon1:c.A78G:p.K26K;	0.994673180555979	0.914
18	9914331	A	T	18	9914334	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon1:c.A78T:p.K26N;VAPA:NM_003574:exon1:c.A78T:p.K26N;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.A78T:p.K26N;ENSG00000101558:ENST00000400000:exon1:c.A78T:p.K26N;ENSG00000101558:ENST00000585042:exon1:c.A78T:p.K26N;	0.989339015720097	0.934
18	9914332	G	A	18	9914335	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon1:c.G79A:p.G27S;VAPA:NM_003574:exon1:c.G79A:p.G27S;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.G79A:p.G27S;ENSG00000101558:ENST00000400000:exon1:c.G79A:p.G27S;ENSG00000101558:ENST00000585042:exon1:c.G79A:p.V27I;	0.999835450731601	0.978
18	9914332	G	C	18	9914335	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon1:c.G79C:p.G27R;VAPA:NM_003574:exon1:c.G79C:p.G27R;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.G79C:p.G27R;ENSG00000101558:ENST00000400000:exon1:c.G79C:p.G27R;ENSG00000101558:ENST00000585042:exon1:c.G79C:p.V27L;	0.999976721567522	0.996
18	9914332	G	T	18	9914335	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon1:c.G79T:p.G27C;VAPA:NM_003574:exon1:c.G79T:p.G27C;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon1:c.G79T:p.G27C;ENSG00000101558:ENST00000400000:exon1:c.G79T:p.G27C;ENSG00000101558:ENST00000585042:exon1:c.G79T:p.V27F;	0.99987971655313	0.944
18	9914333	G	A	18	9914336	y	y	splicing	VAPA(NM_003574:exon1:c.79+1G>A;NM_194434:exon1:c.79+1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon1:c.79+1G>A;ENST00000340541:exon1:c.79+1G>A;ENST00000585042:exon1:c.79+1G>A)	.	.	0.999978791067592	0.944
18	9914333	G	C	18	9914336	y	y	splicing	VAPA(NM_003574:exon1:c.79+1G>C;NM_194434:exon1:c.79+1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon1:c.79+1G>C;ENST00000340541:exon1:c.79+1G>C;ENST00000585042:exon1:c.79+1G>C)	.	.	0.999978986619032	0.946
18	9914333	G	T	18	9914336	y	y	splicing	VAPA(NM_003574:exon1:c.79+1G>T;NM_194434:exon1:c.79+1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon1:c.79+1G>T;ENST00000340541:exon1:c.79+1G>T;ENST00000585042:exon1:c.79+1G>T)	.	.	0.999978986619032	0.946
18	9914334	T	A	18	9914337	y	y	splicing	VAPA(NM_003574:exon1:c.79+2T>A;NM_194434:exon1:c.79+2T>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon1:c.79+2T>A;ENST00000340541:exon1:c.79+2T>A;ENST00000585042:exon1:c.79+2T>A)	.	.	0.999990318658069	0.916
18	9914334	T	C	18	9914337	y	y	splicing	VAPA(NM_003574:exon1:c.79+2T>C;NM_194434:exon1:c.79+2T>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon1:c.79+2T>C;ENST00000340541:exon1:c.79+2T>C;ENST00000585042:exon1:c.79+2T>C)	.	.	0.979424784107509	0.506
18	9914334	T	G	18	9914337	y	y	splicing	VAPA(NM_003574:exon1:c.79+2T>G;NM_194434:exon1:c.79+2T>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon1:c.79+2T>G;ENST00000340541:exon1:c.79+2T>G;ENST00000585042:exon1:c.79+2T>G)	.	.	0.999992171375623	0.896
18	9914335	A	C	18	9914338	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.919740585295128	0.566
18	9914335	A	G	18	9914338	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0866641524478978	0.294
18	9914335	A	T	18	9914338	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.954672270779926	0.562
18	9914336	G	A	18	9914339	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.6764503291068E-4	0.046
18	9914336	G	C	18	9914339	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.21606103442908E-4	0.09
18	9914336	G	T	18	9914339	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.26414183129774E-4	0.032
18	9914337	G	A	18	9914340	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998807429658687	0.86
18	9914337	G	C	18	9914340	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.996532007074325	0.872
18	9914337	G	T	18	9914340	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999811406990304	0.912
18	9914338	C	A	18	9914341	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.67733867943429E-4	0.03
18	9914338	C	G	18	9914341	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.34768681047857E-4	0.026
18	9914338	C	T	18	9914341	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.63700266924325E-5	0.016
18	9914339	A	C	18	9914342	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.76735472028943E-4	0.0
18	9914339	A	G	18	9914342	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.18010884701564E-4	0.0
18	9914339	A	T	18	9914342	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.31728714441135E-4	0.0
18	9914340	G	A	18	9914343	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.1485934171553E-4	0.002
18	9914340	G	C	18	9914343	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00113589224100794	0.006
18	9914340	G	T	18	9914343	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00126470295037395	0.004
18	9924888	T	A	18	9924891	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.95735775412773E-5	0.006
18	9924888	T	C	18	9924891	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.26718658278921E-5	0.006
18	9924888	T	G	18	9924891	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.26718658278921E-5	0.006
18	9924889	T	A	18	9924892	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.13847195961614E-5	0.006
18	9924889	T	C	18	9924892	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.13847195961614E-5	0.016
18	9924889	T	G	18	9924892	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.13847195961614E-5	0.014
18	9924890	T	A	18	9924893	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.41069364790736E-5	0.008
18	9924890	T	C	18	9924893	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.41069364790736E-5	0.006
18	9924890	T	G	18	9924893	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.41069364790736E-5	0.006
18	9924891	T	A	18	9924894	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.78864525412067E-5	0.002
18	9924891	T	C	18	9924894	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.78864525412067E-5	0.004
18	9924891	T	G	18	9924894	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.78864525412067E-5	0.012
18	9924892	T	A	18	9924895	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.40148198700121E-5	0.006
18	9924892	T	C	18	9924895	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.40148198700121E-5	0.008
18	9924892	T	G	18	9924895	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.61823521431269E-5	0.006
18	9924893	T	A	18	9924896	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.45277156108894E-5	0.002
18	9924893	T	C	18	9924896	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.45277156108894E-5	0.002
18	9924893	T	G	18	9924896	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.45277156108894E-5	0.002
18	9924894	T	A	18	9924897	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.10275622159801E-5	0.0
18	9924894	T	C	18	9924897	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.10275622159801E-5	0.0
18	9924894	T	G	18	9924897	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.10275622159801E-5	0.0
18	9924895	T	A	18	9924898	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.10275622159801E-5	0.0
18	9924895	T	C	18	9924898	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.10275622159801E-5	0.0
18	9924895	T	G	18	9924898	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.10275622159801E-5	0.0
18	9924896	A	C	18	9924899	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.87872098031522E-5	0.004
18	9924896	A	G	18	9924899	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.87872098031522E-5	0.004
18	9924896	A	T	18	9924899	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.87872098031522E-5	0.0
18	9924897	A	C	18	9924900	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.07620641825897E-5	0.0
18	9924897	A	G	18	9924900	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.07620641825897E-5	0.0
18	9924897	A	T	18	9924900	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.31929338280547E-5	0.0
18	9924898	A	C	18	9924901	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.80-2A>C)	.	.	2.02156764115319E-4	0.004
18	9924898	A	G	18	9924901	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.80-2A>G)	.	.	2.02156764115319E-4	0.004
18	9924898	A	T	18	9924901	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.80-2A>T)	.	.	2.02156764115319E-4	0.004
18	9924899	G	A	18	9924902	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.80-1G>A)	.	.	4.52932449848953E-5	0.002
18	9924899	G	C	18	9924902	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.80-1G>C)	.	.	6.05670308788612E-5	0.044
18	9924899	G	T	18	9924902	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.80-1G>T)	.	.	4.52932449848953E-5	0.002
18	9924900	T	A	18	9924903	n	y	intronic	VAPA	.	.	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000585042:exon2:c.T80A:p.V27D;	5.82524543888414E-5	0.012
18	9924900	T	C	18	9924903	n	y	intronic	VAPA	.	.	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000585042:exon2:c.T80C:p.V27A;	4.35623326617809E-5	0.0
18	9924900	T	G	18	9924903	n	y	intronic	VAPA	.	.	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000585042:exon2:c.T80G:p.V27G;	5.82524543888414E-5	0.0
18	9924901	C	A	18	9924904	n	y	intronic	VAPA	.	.	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000585042:exon2:c.C81A:p.V27V;	3.00286289604843E-5	0.0
18	9924901	C	G	18	9924904	n	y	intronic	VAPA	.	.	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000585042:exon2:c.C81G:p.V27V;	3.00286289604843E-5	0.0
18	9924901	C	T	18	9924904	n	y	intronic	VAPA	.	.	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000585042:exon2:c.C81T:p.V27V;	3.00286289604843E-5	0.0
18	9924990	T	A	18	9924993	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	4.64726965068443E-5	0.002
18	9924990	T	C	18	9924993	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	4.64726965068443E-5	0.004
18	9924990	T	G	18	9924993	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	4.64726965068443E-5	0.004
18	9924991	A	C	18	9924994	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	2.4631346304159E-5	0.0
18	9924991	A	G	18	9924994	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	2.4631346304159E-5	0.0
18	9924991	A	T	18	9924994	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	2.4631346304159E-5	0.0
18	9924992	G	A	18	9924995	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	4.85847635620582E-5	0.0
18	9924992	G	C	18	9924995	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	4.85847635620582E-5	0.0
18	9924992	G	T	18	9924995	n	y	intronic	VAPA	.	.	UTR3	ENSG00000101558	.	.	4.85847635620582E-5	0.0
18	9924993	G	A	18	9924996	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.172+1G>A)	.	.	4.76708984740728E-5	0.004
18	9924993	G	C	18	9924996	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.172+1G>C)	.	.	4.41797884156524E-5	0.0
18	9924993	G	T	18	9924996	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.172+1G>T)	.	.	4.76708984740728E-5	0.0
18	9924994	T	A	18	9924997	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.172+2T>A)	.	.	1.74359842730815E-4	0.002
18	9924994	T	C	18	9924997	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.172+2T>C)	.	.	9.59360374706247E-5	0.008
18	9924994	T	G	18	9924997	n	y	intronic	VAPA	.	.	splicing	ENSG00000101558(ENST00000585042:exon2:c.172+2T>G)	.	.	1.74359842730815E-4	0.008
18	9924995	A	C	18	9924998	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.80465223468383E-5	0.004
18	9924995	A	G	18	9924998	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.80465223468383E-5	0.004
18	9924995	A	T	18	9924998	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.10529984002121E-5	0.008
18	9924996	C	A	18	9924999	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.33308296055063E-4	0.028
18	9924996	C	G	18	9924999	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.83016484676831E-5	0.028
18	9924996	C	T	18	9924999	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.33308296055063E-4	0.036
18	9924997	G	A	18	9925000	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.31926979135907E-4	0.05
18	9924997	G	C	18	9925000	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.68219155180855E-5	0.0
18	9924997	G	T	18	9925000	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	7.24315439998527E-5	0.008
18	9924998	T	A	18	9925001	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.59360374706247E-5	0.004
18	9924998	T	C	18	9925001	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.59360374706247E-5	0.06
18	9924998	T	G	18	9925001	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.59360374706247E-5	0.036
18	9924999	G	A	18	9925002	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.80465223468383E-5	0.0
18	9924999	G	C	18	9925002	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.80465223468383E-5	0.0
18	9924999	G	T	18	9925002	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.80465223468383E-5	0.0
18	9925000	T	A	18	9925003	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.14850402615726E-5	0.008
18	9925000	T	C	18	9925003	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.14850402615726E-5	0.008
18	9925000	T	G	18	9925003	n	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.14850402615726E-5	0.006
18	9931795	T	A	18	9931798	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.97457953716074	0.646
18	9931795	T	C	18	9931798	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00215254878166648	0.092
18	9931795	T	G	18	9931798	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.847246937869395	0.674
18	9931796	A	C	18	9931799	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.31510281479092E-5	0.002
18	9931796	A	G	18	9931799	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.07648971869274E-5	0.002
18	9931796	A	T	18	9931799	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.78498195757675E-5	0.038
18	9931797	A	C	18	9931800	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00349013925016462	0.154
18	9931797	A	G	18	9931800	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998873395773423	0.95
18	9931797	A	T	18	9931800	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00215233909887627	0.246
18	9931798	A	C	18	9931801	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0192880113159844	0.35
18	9931798	A	G	18	9931801	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999389460196462	0.946
18	9931798	A	T	18	9931801	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0298172034186997	0.336
18	9931799	C	A	18	9931802	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00517633811429677	0.118
18	9931799	C	G	18	9931802	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999920277554363	0.916
18	9931799	C	T	18	9931802	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.8942455599829E-5	0.006
18	9931800	T	A	18	9931803	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0835568202091098	0.198
18	9931800	T	C	18	9931803	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.03801286725753E-5	0.034
18	9931800	T	G	18	9931803	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.139357730519036	0.322
18	9931801	T	A	18	9931804	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998293290011144	0.858
18	9931801	T	C	18	9931804	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.751285462689326	0.586
18	9931801	T	G	18	9931804	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.99671151095038	0.86
18	9931802	T	A	18	9931805	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.898537480776428	0.608
18	9931802	T	C	18	9931805	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.1456214112138E-5	0.038
18	9931802	T	G	18	9931805	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.923134228540866	0.62
18	9931803	A	C	18	9931806	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.18510917740766E-5	0.02
18	9931803	A	G	18	9931806	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.77491486152561E-5	0.122
18	9931803	A	T	18	9931806	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.9794987308667E-4	0.004
18	9931804	C	A	18	9931807	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998016524484811	0.936
18	9931804	C	G	18	9931807	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999921691113905	0.97
18	9931804	C	T	18	9931807	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.714396661048004	0.384
18	9931805	A	C	18	9931808	y	y	splicing	VAPA(NM_003574:exon2:c.80-2A>C;NM_194434:exon2:c.80-2A>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.80-2A>C;ENST00000340541:exon2:c.80-2A>C;ENST00000585042:exon3:c.173-2A>C)	.	.	0.999988247793601	0.928
18	9931805	A	G	18	9931808	y	y	splicing	VAPA(NM_003574:exon2:c.80-2A>G;NM_194434:exon2:c.80-2A>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.80-2A>G;ENST00000340541:exon2:c.80-2A>G;ENST00000585042:exon3:c.173-2A>G)	.	.	0.999988247793601	0.928
18	9931805	A	T	18	9931808	y	y	splicing	VAPA(NM_003574:exon2:c.80-2A>T;NM_194434:exon2:c.80-2A>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.80-2A>T;ENST00000340541:exon2:c.80-2A>T;ENST00000585042:exon3:c.173-2A>T)	.	.	0.999988247793601	0.93
18	9931806	G	A	18	9931809	y	y	splicing	VAPA(NM_003574:exon2:c.80-1G>A;NM_194434:exon2:c.80-1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.80-1G>A;ENST00000340541:exon2:c.80-1G>A;ENST00000585042:exon3:c.173-1G>A)	.	.	0.999990361384395	0.938
18	9931806	G	C	18	9931809	y	y	splicing	VAPA(NM_003574:exon2:c.80-1G>C;NM_194434:exon2:c.80-1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.80-1G>C;ENST00000340541:exon2:c.80-1G>C;ENST00000585042:exon3:c.173-1G>C)	.	.	0.999990361384395	0.938
18	9931806	G	T	18	9931809	y	y	splicing	VAPA(NM_003574:exon2:c.80-1G>T;NM_194434:exon2:c.80-1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.80-1G>T;ENST00000340541:exon2:c.80-1G>T;ENST00000585042:exon3:c.173-1G>T)	.	.	0.999990361384395	0.938
18	9931807	G	A	18	9931810	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon2:c.G80A:p.G27D;VAPA:NM_003574:exon2:c.G80A:p.G27D;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.G80A:p.G27D;ENSG00000101558:ENST00000400000:exon2:c.G80A:p.G27D;	0.999077924929507	0.868
18	9931807	G	C	18	9931810	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon2:c.G80C:p.G27A;VAPA:NM_003574:exon2:c.G80C:p.G27A;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.G80C:p.G27A;ENSG00000101558:ENST00000400000:exon2:c.G80C:p.G27A;	0.999779327445193	0.974
18	9931807	G	T	18	9931810	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon2:c.G80T:p.G27V;VAPA:NM_003574:exon2:c.G80T:p.G27V;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.G80T:p.G27V;ENSG00000101558:ENST00000400000:exon2:c.G80T:p.G27V;	0.999904761265213	0.994
18	9931808	C	A	18	9931811	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon2:c.C81A:p.G27G;VAPA:NM_003574:exon2:c.C81A:p.G27G;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.C81A:p.G27G;ENSG00000101558:ENST00000400000:exon2:c.C81A:p.G27G;	0.0405779437566173	0.29
18	9931808	C	G	18	9931811	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon2:c.C81G:p.G27G;VAPA:NM_003574:exon2:c.C81G:p.G27G;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.C81G:p.G27G;ENSG00000101558:ENST00000400000:exon2:c.C81G:p.G27G;	0.0158246093186684	0.164
18	9931808	C	T	18	9931811	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon2:c.C81T:p.G27G;VAPA:NM_003574:exon2:c.C81T:p.G27G;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.C81T:p.G27G;ENSG00000101558:ENST00000400000:exon2:c.C81T:p.G27G;	0.0734074524484133	0.282
18	9931957	C	A	18	9931960	y	y	exonic	VAPA	stopgain SNV	VAPA:NM_194434:exon2:c.C230A:p.S77X;VAPA:NM_003574:exon2:c.C230A:p.S77X;	exonic	ENSG00000101558	stopgain SNV	ENSG00000101558:ENST00000340541:exon2:c.C230A:p.S77X;ENSG00000101558:ENST00000400000:exon2:c.C230A:p.S77X;	0.951486833589164	0.766
18	9931957	C	G	18	9931960	y	y	exonic	VAPA	stopgain SNV	VAPA:NM_194434:exon2:c.C230G:p.S77X;VAPA:NM_003574:exon2:c.C230G:p.S77X;	exonic	ENSG00000101558	stopgain SNV	ENSG00000101558:ENST00000340541:exon2:c.C230G:p.S77X;ENSG00000101558:ENST00000400000:exon2:c.C230G:p.S77X;	0.98639906562977	0.756
18	9931957	C	T	18	9931960	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon2:c.C230T:p.S77L;VAPA:NM_003574:exon2:c.C230T:p.S77L;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.C230T:p.S77L;ENSG00000101558:ENST00000400000:exon2:c.C230T:p.S77L;	0.99994200321148	0.996
18	9931958	A	C	18	9931961	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon2:c.A231C:p.S77S;VAPA:NM_003574:exon2:c.A231C:p.S77S;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.A231C:p.S77S;ENSG00000101558:ENST00000400000:exon2:c.A231C:p.S77S;	0.999612704847106	0.984
18	9931958	A	G	18	9931961	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon2:c.A231G:p.S77S;VAPA:NM_003574:exon2:c.A231G:p.S77S;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.A231G:p.S77S;ENSG00000101558:ENST00000400000:exon2:c.A231G:p.S77S;	0.999928195631313	0.986
18	9931958	A	T	18	9931961	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon2:c.A231T:p.S77S;VAPA:NM_003574:exon2:c.A231T:p.S77S;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.A231T:p.S77S;ENSG00000101558:ENST00000400000:exon2:c.A231T:p.S77S;	0.999953275450859	0.976
18	9931959	G	A	18	9931962	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon2:c.G232A:p.V78I;VAPA:NM_003574:exon2:c.G232A:p.V78I;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.G232A:p.V78I;ENSG00000101558:ENST00000400000:exon2:c.G232A:p.V78I;	0.99999291083379	1.0
18	9931959	G	C	18	9931962	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon2:c.G232C:p.V78L;VAPA:NM_003574:exon2:c.G232C:p.V78L;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.G232C:p.V78L;ENSG00000101558:ENST00000400000:exon2:c.G232C:p.V78L;	0.999997648335462	1.0
18	9931959	G	T	18	9931962	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon2:c.G232T:p.V78L;VAPA:NM_003574:exon2:c.G232T:p.V78L;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon2:c.G232T:p.V78L;ENSG00000101558:ENST00000400000:exon2:c.G232T:p.V78L;	0.99999351336082	1.0
18	9931960	G	A	18	9931963	y	y	splicing	VAPA(NM_003574:exon2:c.232+1G>A;NM_194434:exon2:c.232+1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.232+1G>A;ENST00000340541:exon2:c.232+1G>A;ENST00000585042:exon3:c.325+1G>A)	.	.	0.999992425382947	0.94
18	9931960	G	C	18	9931963	y	y	splicing	VAPA(NM_003574:exon2:c.232+1G>C;NM_194434:exon2:c.232+1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.232+1G>C;ENST00000340541:exon2:c.232+1G>C;ENST00000585042:exon3:c.325+1G>C)	.	.	0.999992425382947	0.94
18	9931960	G	T	18	9931963	y	y	splicing	VAPA(NM_003574:exon2:c.232+1G>T;NM_194434:exon2:c.232+1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.232+1G>T;ENST00000340541:exon2:c.232+1G>T;ENST00000585042:exon3:c.325+1G>T)	.	.	0.999992425382947	0.94
18	9931961	T	A	18	9931964	y	y	splicing	VAPA(NM_003574:exon2:c.232+2T>A;NM_194434:exon2:c.232+2T>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.232+2T>A;ENST00000340541:exon2:c.232+2T>A;ENST00000585042:exon3:c.325+2T>A)	.	.	0.999990764389106	0.942
18	9931961	T	C	18	9931964	y	y	splicing	VAPA(NM_003574:exon2:c.232+2T>C;NM_194434:exon2:c.232+2T>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.232+2T>C;ENST00000340541:exon2:c.232+2T>C;ENST00000585042:exon3:c.325+2T>C)	.	.	0.994810718140091	0.674
18	9931961	T	G	18	9931964	y	y	splicing	VAPA(NM_003574:exon2:c.232+2T>G;NM_194434:exon2:c.232+2T>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon2:c.232+2T>G;ENST00000340541:exon2:c.232+2T>G;ENST00000585042:exon3:c.325+2T>G)	.	.	0.999990764389106	0.942
18	9931962	A	C	18	9931965	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999971874770335	0.904
18	9931962	A	G	18	9931965	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999748392105954	0.916
18	9931962	A	T	18	9931965	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999985273532181	0.976
18	9931963	G	A	18	9931966	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.82676780013106E-4	0.102
18	9931963	G	C	18	9931966	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.85801875329907E-4	0.224
18	9931963	G	T	18	9931966	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.66310860720839E-4	0.104
18	9931964	C	A	18	9931967	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	7.23245537991628E-5	0.03
18	9931964	C	G	18	9931967	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.18472057245353E-4	0.048
18	9931964	C	T	18	9931967	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00132663636682303	0.174
18	9931965	A	C	18	9931968	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.60182457578118E-5	0.052
18	9931965	A	G	18	9931968	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.88765739679837E-5	0.082
18	9931965	A	T	18	9931968	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.55441566580505E-5	0.056
18	9931966	A	C	18	9931969	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.98041655501586E-4	0.096
18	9931966	A	G	18	9931969	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.98041655501586E-4	0.054
18	9931966	A	T	18	9931969	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.18064007405369E-4	0.074
18	9931967	A	C	18	9931970	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.34514655784267E-4	0.016
18	9931967	A	G	18	9931970	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.87459050650407E-4	0.034
18	9931967	A	T	18	9931970	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.62438806129702E-4	0.01
18	9936095	T	A	18	9936098	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	8.77504281393175E-4	0.11
18	9936095	T	C	18	9936098	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.69868759409125E-4	0.026
18	9936095	T	G	18	9936098	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.1006648338915E-4	0.06
18	9936096	T	A	18	9936099	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.108471698553539	0.324
18	9936096	T	C	18	9936099	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00696987765720191	0.098
18	9936096	T	G	18	9936099	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0468929426828596	0.348
18	9936097	T	A	18	9936100	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00470772036760947	0.236
18	9936097	T	C	18	9936100	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.06076944262288E-4	0.074
18	9936097	T	G	18	9936100	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0129640138230538	0.16
18	9936098	C	A	18	9936101	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00446918571687965	0.12
18	9936098	C	G	18	9936101	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00837862751627279	0.104
18	9936098	C	T	18	9936101	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.12554536173489E-4	0.012
18	9936099	T	A	18	9936102	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00999373087824857	0.076
18	9936099	T	C	18	9936102	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.84317199318658E-5	0.002
18	9936099	T	G	18	9936102	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00385830291740696	0.08
18	9936100	T	A	18	9936103	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0038421573872813	0.04
18	9936100	T	C	18	9936103	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.08583736107068E-4	0.0
18	9936100	T	G	18	9936103	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.37701647889471E-4	0.064
18	9936101	A	C	18	9936104	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.11394020500104E-5	0.0
18	9936101	A	G	18	9936104	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.4929780876168E-5	0.002
18	9936101	A	T	18	9936104	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.42673552226673E-5	0.006
18	9936102	T	A	18	9936105	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00577457125265601	0.172
18	9936102	T	C	18	9936105	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00116663096404064	0.116
18	9936102	T	G	18	9936105	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999759072005958	0.946
18	9936103	T	A	18	9936106	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.258192339850036	0.562
18	9936103	T	C	18	9936106	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.017909665618558	0.266
18	9936103	T	G	18	9936106	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.113563918025279	0.364
18	9936104	T	A	18	9936107	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0372023270032382	0.198
18	9936104	T	C	18	9936107	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.98054684962403E-5	0.0
18	9936104	T	G	18	9936107	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.991607805054572	0.706
18	9936105	A	C	18	9936108	y	y	splicing	VAPA(NM_003574:exon3:c.233-2A>C;NM_194434:exon3:c.233-2A>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.233-2A>C;ENST00000340541:exon3:c.233-2A>C;ENST00000585042:exon4:c.326-2A>C)	.	.	0.999988247793601	0.93
18	9936105	A	G	18	9936108	y	y	splicing	VAPA(NM_003574:exon3:c.233-2A>G;NM_194434:exon3:c.233-2A>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.233-2A>G;ENST00000340541:exon3:c.233-2A>G;ENST00000585042:exon4:c.326-2A>G)	.	.	0.999988247793601	0.93
18	9936105	A	T	18	9936108	y	y	splicing	VAPA(NM_003574:exon3:c.233-2A>T;NM_194434:exon3:c.233-2A>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.233-2A>T;ENST00000340541:exon3:c.233-2A>T;ENST00000585042:exon4:c.326-2A>T)	.	.	0.999988247793601	0.93
18	9936106	G	A	18	9936109	y	y	splicing	VAPA(NM_003574:exon3:c.233-1G>A;NM_194434:exon3:c.233-1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.233-1G>A;ENST00000340541:exon3:c.233-1G>A;ENST00000585042:exon4:c.326-1G>A)	.	.	0.999990361384395	0.938
18	9936106	G	C	18	9936109	y	y	splicing	VAPA(NM_003574:exon3:c.233-1G>C;NM_194434:exon3:c.233-1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.233-1G>C;ENST00000340541:exon3:c.233-1G>C;ENST00000585042:exon4:c.326-1G>C)	.	.	0.999990361384395	0.938
18	9936106	G	T	18	9936109	y	y	splicing	VAPA(NM_003574:exon3:c.233-1G>T;NM_194434:exon3:c.233-1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.233-1G>T;ENST00000340541:exon3:c.233-1G>T;ENST00000585042:exon4:c.326-1G>T)	.	.	0.999990361384395	0.938
18	9936107	T	A	18	9936110	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.T233A:p.V78E;VAPA:NM_003574:exon3:c.T233A:p.V78E;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.T233A:p.V78E;ENSG00000101558:ENST00000400000:exon3:c.T233A:p.V78E;	0.723396275066965	0.728
18	9936107	T	C	18	9936110	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.T233C:p.V78A;VAPA:NM_003574:exon3:c.T233C:p.V78A;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.T233C:p.V78A;ENSG00000101558:ENST00000400000:exon3:c.T233C:p.V78A;	0.925948427708778	0.806
18	9936107	T	G	18	9936110	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.T233G:p.V78G;VAPA:NM_003574:exon3:c.T233G:p.V78G;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.T233G:p.V78G;ENSG00000101558:ENST00000400000:exon3:c.T233G:p.V78G;	0.818880544242235	0.67
18	9936108	A	C	18	9936111	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon3:c.A234C:p.V78V;VAPA:NM_003574:exon3:c.A234C:p.V78V;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.A234C:p.V78V;ENSG00000101558:ENST00000400000:exon3:c.A234C:p.V78V;	0.00430222495544708	0.15
18	9936108	A	G	18	9936111	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon3:c.A234G:p.V78V;VAPA:NM_003574:exon3:c.A234G:p.V78V;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.A234G:p.V78V;ENSG00000101558:ENST00000400000:exon3:c.A234G:p.V78V;	0.00112343329553992	0.082
18	9936108	A	T	18	9936111	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon3:c.A234T:p.V78V;VAPA:NM_003574:exon3:c.A234T:p.V78V;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.A234T:p.V78V;ENSG00000101558:ENST00000400000:exon3:c.A234T:p.V78V;	0.00350651450409002	0.092
18	9936208	G	A	18	9936211	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.G334A:p.V112M;VAPA:NM_003574:exon3:c.G334A:p.V112M;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.G334A:p.V112M;ENSG00000101558:ENST00000400000:exon3:c.G334A:p.V112M;	0.933113879257994	0.726
18	9936208	G	C	18	9936211	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.G334C:p.V112L;VAPA:NM_003574:exon3:c.G334C:p.V112L;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.G334C:p.V112L;ENSG00000101558:ENST00000400000:exon3:c.G334C:p.V112L;	0.00558429376357402	0.09
18	9936208	G	T	18	9936211	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.G334T:p.V112L;VAPA:NM_003574:exon3:c.G334T:p.V112L;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.G334T:p.V112L;ENSG00000101558:ENST00000400000:exon3:c.G334T:p.V112L;	0.0460934905698748	0.272
18	9936209	T	A	18	9936212	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.T335A:p.V112E;VAPA:NM_003574:exon3:c.T335A:p.V112E;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.T335A:p.V112E;ENSG00000101558:ENST00000400000:exon3:c.T335A:p.V112E;	0.625585542426855	0.656
18	9936209	T	C	18	9936212	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.T335C:p.V112A;VAPA:NM_003574:exon3:c.T335C:p.V112A;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.T335C:p.V112A;ENSG00000101558:ENST00000400000:exon3:c.T335C:p.V112A;	0.912586539717092	0.898
18	9936209	T	G	18	9936212	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon3:c.T335G:p.V112G;VAPA:NM_003574:exon3:c.T335G:p.V112G;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.T335G:p.V112G;ENSG00000101558:ENST00000400000:exon3:c.T335G:p.V112G;	0.776184766346715	0.866
18	9936210	G	A	18	9936213	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon3:c.G336A:p.V112V;VAPA:NM_003574:exon3:c.G336A:p.V112V;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.G336A:p.V112V;ENSG00000101558:ENST00000400000:exon3:c.G336A:p.V112V;	0.999671076276539	0.972
18	9936210	G	C	18	9936213	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon3:c.G336C:p.V112V;VAPA:NM_003574:exon3:c.G336C:p.V112V;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.G336C:p.V112V;ENSG00000101558:ENST00000400000:exon3:c.G336C:p.V112V;	0.999671433700547	0.964
18	9936210	G	T	18	9936213	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon3:c.G336T:p.V112V;VAPA:NM_003574:exon3:c.G336T:p.V112V;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon3:c.G336T:p.V112V;ENSG00000101558:ENST00000400000:exon3:c.G336T:p.V112V;	0.999689146238898	0.97
18	9936211	G	A	18	9936214	y	y	splicing	VAPA(NM_003574:exon3:c.336+1G>A;NM_194434:exon3:c.336+1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.336+1G>A;ENST00000340541:exon3:c.336+1G>A)	.	.	0.999985532734767	0.936
18	9936211	G	C	18	9936214	y	y	splicing	VAPA(NM_003574:exon3:c.336+1G>C;NM_194434:exon3:c.336+1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.336+1G>C;ENST00000340541:exon3:c.336+1G>C)	.	.	0.999985532734767	0.936
18	9936211	G	T	18	9936214	y	y	splicing	VAPA(NM_003574:exon3:c.336+1G>T;NM_194434:exon3:c.336+1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.336+1G>T;ENST00000340541:exon3:c.336+1G>T)	.	.	0.999985532734767	0.936
18	9936212	T	A	18	9936215	y	y	splicing	VAPA(NM_003574:exon3:c.336+2T>A;NM_194434:exon3:c.336+2T>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.336+2T>A;ENST00000340541:exon3:c.336+2T>A)	.	.	0.999988247793601	0.928
18	9936212	T	C	18	9936215	y	y	splicing	VAPA(NM_003574:exon3:c.336+2T>C;NM_194434:exon3:c.336+2T>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.336+2T>C;ENST00000340541:exon3:c.336+2T>C)	.	.	0.99340600729494	0.674
18	9936212	T	G	18	9936215	y	y	splicing	VAPA(NM_003574:exon3:c.336+2T>G;NM_194434:exon3:c.336+2T>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon3:c.336+2T>G;ENST00000340541:exon3:c.336+2T>G)	.	.	0.999988247793601	0.928
18	9936213	A	C	18	9936216	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.994767118403041	0.91
18	9936213	A	G	18	9936216	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00537915149957985	0.17
18	9936213	A	T	18	9936216	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.994980961286138	0.866
18	9936214	A	C	18	9936217	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.995329895891386	0.856
18	9936214	A	G	18	9936217	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999241233504831	0.856
18	9936214	A	T	18	9936217	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999254929953827	0.862
18	9936215	G	A	18	9936218	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999868833856652	0.788
18	9936215	G	C	18	9936218	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999722498651918	0.87
18	9936215	G	T	18	9936218	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.99942279332277	0.73
18	9936216	T	A	18	9936219	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.695711438594944	0.568
18	9936216	T	C	18	9936219	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.409174079224689	0.582
18	9936216	T	G	18	9936219	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.326012113423339	0.462
18	9936217	A	C	18	9936220	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.55744691039141E-4	0.014
18	9936217	A	G	18	9936220	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	7.37687621806476E-5	0.004
18	9936217	A	T	18	9936220	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.67262792041983E-5	0.002
18	9936218	T	A	18	9936221	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.57706222375624E-5	0.12
18	9936218	T	C	18	9936221	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.09950617244129E-4	0.134
18	9936218	T	G	18	9936221	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.61733281876118E-5	0.124
18	9936971	G	A	18	9936974	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.45852689438411E-5	0.002
18	9936971	G	C	18	9936974	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.46834774882614E-5	0.0
18	9936971	G	T	18	9936974	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.28298910803998E-5	0.0
18	9936972	T	A	18	9936975	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999554489431525	0.974
18	9936972	T	C	18	9936975	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.96323954522706	0.63
18	9936972	T	G	18	9936975	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999162700684627	0.96
18	9936973	T	A	18	9936976	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.958890388554203	0.732
18	9936973	T	C	18	9936976	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.88992250690769E-4	0.062
18	9936973	T	G	18	9936976	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.67315131850593	0.64
18	9936974	T	A	18	9936977	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.997119770713431	0.836
18	9936974	T	C	18	9936977	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0448159337353927	0.324
18	9936974	T	G	18	9936977	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.995433304168144	0.856
18	9936975	A	C	18	9936978	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.11427689792042E-4	0.04
18	9936975	A	G	18	9936978	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.37473527795696E-4	0.024
18	9936975	A	T	18	9936978	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.39970031231664E-4	0.058
18	9936976	T	A	18	9936979	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0683845271889932	0.314
18	9936976	T	C	18	9936979	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.66497766573403E-4	0.06
18	9936976	T	G	18	9936979	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999837366540255	0.894
18	9936977	T	A	18	9936980	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.991275552430859	0.856
18	9936977	T	C	18	9936980	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0099135620124081	0.252
18	9936977	T	G	18	9936980	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.991333766366243	0.884
18	9936978	T	A	18	9936981	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998410298899206	0.954
18	9936978	T	C	18	9936981	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.477224287433444	0.402
18	9936978	T	G	18	9936981	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.997789383125924	0.948
18	9936979	T	A	18	9936982	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00491112582673578	0.068
18	9936979	T	C	18	9936982	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.32882840586232E-4	0.002
18	9936979	T	G	18	9936982	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	7.49010469438084E-4	0.062
18	9936980	T	A	18	9936983	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.102404592374103	0.322
18	9936980	T	C	18	9936983	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.40887706578296E-5	0.002
18	9936980	T	G	18	9936983	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998888457373519	0.81
18	9936981	A	C	18	9936984	y	y	splicing	VAPA(NM_003574:exon4:c.337-2A>C;NM_194434:exon4:c.337-2A>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.337-2A>C;ENST00000340541:exon4:c.337-2A>C)	.	.	0.999988247793601	0.928
18	9936981	A	G	18	9936984	y	y	splicing	VAPA(NM_003574:exon4:c.337-2A>G;NM_194434:exon4:c.337-2A>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.337-2A>G;ENST00000340541:exon4:c.337-2A>G)	.	.	0.999988247793601	0.928
18	9936981	A	T	18	9936984	y	y	splicing	VAPA(NM_003574:exon4:c.337-2A>T;NM_194434:exon4:c.337-2A>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.337-2A>T;ENST00000340541:exon4:c.337-2A>T)	.	.	0.999988247793601	0.928
18	9936982	G	A	18	9936985	y	y	splicing	VAPA(NM_003574:exon4:c.337-1G>A;NM_194434:exon4:c.337-1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.337-1G>A;ENST00000340541:exon4:c.337-1G>A)	.	.	0.999985532734767	0.936
18	9936982	G	C	18	9936985	y	y	splicing	VAPA(NM_003574:exon4:c.337-1G>C;NM_194434:exon4:c.337-1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.337-1G>C;ENST00000340541:exon4:c.337-1G>C)	.	.	0.999985532734767	0.936
18	9936982	G	T	18	9936985	y	y	splicing	VAPA(NM_003574:exon4:c.337-1G>T;NM_194434:exon4:c.337-1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.337-1G>T;ENST00000340541:exon4:c.337-1G>T)	.	.	0.999985532734767	0.936
18	9936983	T	A	18	9936986	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.T337A:p.W113R;VAPA:NM_003574:exon4:c.T337A:p.W113R;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.T337A:p.W113R;ENSG00000101558:ENST00000400000:exon4:c.T337A:p.W113R;	0.62356853296999	0.738
18	9936983	T	C	18	9936986	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.T337C:p.W113R;VAPA:NM_003574:exon4:c.T337C:p.W113R;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.T337C:p.W113R;ENSG00000101558:ENST00000400000:exon4:c.T337C:p.W113R;	0.748824543856956	0.676
18	9936983	T	G	18	9936986	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.T337G:p.W113G;VAPA:NM_003574:exon4:c.T337G:p.W113G;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.T337G:p.W113G;ENSG00000101558:ENST00000400000:exon4:c.T337G:p.W113G;	0.634854019923352	0.604
18	9936984	G	A	18	9936987	y	y	exonic	VAPA	stopgain SNV	VAPA:NM_194434:exon4:c.G338A:p.W113X;VAPA:NM_003574:exon4:c.G338A:p.W113X;	exonic	ENSG00000101558	stopgain SNV	ENSG00000101558:ENST00000340541:exon4:c.G338A:p.W113X;ENSG00000101558:ENST00000400000:exon4:c.G338A:p.W113X;	0.973852897433901	0.858
18	9936984	G	C	18	9936987	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.G338C:p.W113S;VAPA:NM_003574:exon4:c.G338C:p.W113S;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.G338C:p.W113S;ENSG00000101558:ENST00000400000:exon4:c.G338C:p.W113S;	0.976840170571495	0.864
18	9936984	G	T	18	9936987	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.G338T:p.W113L;VAPA:NM_003574:exon4:c.G338T:p.W113L;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.G338T:p.W113L;ENSG00000101558:ENST00000400000:exon4:c.G338T:p.W113L;	0.979264449499251	0.88
18	9937061	T	A	18	9937064	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.T415A:p.L139M;VAPA:NM_003574:exon4:c.T415A:p.L139M;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.T415A:p.L139M;ENSG00000101558:ENST00000400000:exon4:c.T415A:p.L139M;	6.69155959358454E-5	0.004
18	9937061	T	C	18	9937064	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon4:c.T415C:p.L139L;VAPA:NM_003574:exon4:c.T415C:p.L139L;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.T415C:p.L139L;ENSG00000101558:ENST00000400000:exon4:c.T415C:p.L139L;	1.21325500293641E-4	0.012
18	9937061	T	G	18	9937064	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.T415G:p.L139V;VAPA:NM_003574:exon4:c.T415G:p.L139V;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.T415G:p.L139V;ENSG00000101558:ENST00000400000:exon4:c.T415G:p.L139V;	2.30294477976896E-4	0.042
18	9937062	T	A	18	9937065	y	y	exonic	VAPA	stopgain SNV	VAPA:NM_194434:exon4:c.T416A:p.L139X;VAPA:NM_003574:exon4:c.T416A:p.L139X;	exonic	ENSG00000101558	stopgain SNV	ENSG00000101558:ENST00000340541:exon4:c.T416A:p.L139X;ENSG00000101558:ENST00000400000:exon4:c.T416A:p.L139X;	0.755977886759287	0.708
18	9937062	T	C	18	9937065	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.T416C:p.L139S;VAPA:NM_003574:exon4:c.T416C:p.L139S;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.T416C:p.L139S;ENSG00000101558:ENST00000400000:exon4:c.T416C:p.L139S;	0.740411295264517	0.752
18	9937062	T	G	18	9937065	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.T416G:p.L139W;VAPA:NM_003574:exon4:c.T416G:p.L139W;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.T416G:p.L139W;ENSG00000101558:ENST00000400000:exon4:c.T416G:p.L139W;	0.782255697868786	0.796
18	9937063	G	A	18	9937066	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon4:c.G417A:p.L139L;VAPA:NM_003574:exon4:c.G417A:p.L139L;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.G417A:p.L139L;ENSG00000101558:ENST00000400000:exon4:c.G417A:p.L139L;	0.999715210522184	0.974
18	9937063	G	C	18	9937066	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.G417C:p.L139F;VAPA:NM_003574:exon4:c.G417C:p.L139F;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.G417C:p.L139F;ENSG00000101558:ENST00000400000:exon4:c.G417C:p.L139F;	0.999969252099124	0.98
18	9937063	G	T	18	9937066	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon4:c.G417T:p.L139F;VAPA:NM_003574:exon4:c.G417T:p.L139F;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon4:c.G417T:p.L139F;ENSG00000101558:ENST00000400000:exon4:c.G417T:p.L139F;	0.999755407570447	0.748
18	9937064	G	A	18	9937067	y	y	splicing	VAPA(NM_003574:exon4:c.417+1G>A;NM_194434:exon4:c.417+1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.417+1G>A;ENST00000340541:exon4:c.417+1G>A)	.	.	0.999985532734767	0.936
18	9937064	G	C	18	9937067	y	y	splicing	VAPA(NM_003574:exon4:c.417+1G>C;NM_194434:exon4:c.417+1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.417+1G>C;ENST00000340541:exon4:c.417+1G>C)	.	.	0.999985532734767	0.936
18	9937064	G	T	18	9937067	y	y	splicing	VAPA(NM_003574:exon4:c.417+1G>T;NM_194434:exon4:c.417+1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.417+1G>T;ENST00000340541:exon4:c.417+1G>T)	.	.	0.999985532734767	0.936
18	9937065	T	A	18	9937068	y	y	splicing	VAPA(NM_003574:exon4:c.417+2T>A;NM_194434:exon4:c.417+2T>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.417+2T>A;ENST00000340541:exon4:c.417+2T>A)	.	.	0.999988247793601	0.928
18	9937065	T	C	18	9937068	y	y	splicing	VAPA(NM_003574:exon4:c.417+2T>C;NM_194434:exon4:c.417+2T>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.417+2T>C;ENST00000340541:exon4:c.417+2T>C)	.	.	0.99340600729494	0.644
18	9937065	T	G	18	9937068	y	y	splicing	VAPA(NM_003574:exon4:c.417+2T>G;NM_194434:exon4:c.417+2T>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon4:c.417+2T>G;ENST00000340541:exon4:c.417+2T>G)	.	.	0.999988247793601	0.928
18	9937066	A	C	18	9937069	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.767172149812852	0.568
18	9937066	A	G	18	9937069	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.33093752981039E-4	0.006
18	9937066	A	T	18	9937069	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.774344576858764	0.514
18	9937067	A	C	18	9937070	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.770335683242844	0.48
18	9937067	A	G	18	9937070	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.910469397291871	0.624
18	9937067	A	T	18	9937070	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.936236964356603	0.662
18	9937068	G	A	18	9937071	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.996162300110584	0.896
18	9937068	G	C	18	9937071	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.996658979147866	0.916
18	9937068	G	T	18	9937071	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998079997806713	0.87
18	9937069	T	A	18	9937072	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.460460899393453	0.482
18	9937069	T	C	18	9937072	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.44493920623178	0.462
18	9937069	T	G	18	9937072	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.181335097351579	0.37
18	9937070	A	C	18	9937073	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00251448584150188	0.014
18	9937070	A	G	18	9937073	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00251448584150188	0.01
18	9937070	A	T	18	9937073	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00371653993790341	0.036
18	9937071	G	A	18	9937074	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.5566596535737E-4	0.016
18	9937071	G	C	18	9937074	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.34807568999968E-4	0.012
18	9937071	G	T	18	9937074	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.5566596535737E-4	0.012
18	9944909	A	C	18	9944912	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.79201304088187E-5	0.116
18	9944909	A	G	18	9944912	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.37951253474311E-5	0.068
18	9944909	A	T	18	9944912	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	7.76005003093439E-5	0.218
18	9944910	T	A	18	9944913	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999991247564773	0.984
18	9944910	T	C	18	9944913	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999357209156003	0.77
18	9944910	T	G	18	9944913	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999986995319358	0.98
18	9944911	G	A	18	9944914	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.524880587159786	0.496
18	9944911	G	C	18	9944914	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.49452026711599	0.564
18	9944911	G	T	18	9944914	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.49452026711599	0.514
18	9944912	C	A	18	9944915	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.358851631878174	0.316
18	9944912	C	G	18	9944915	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.130832378667081	0.296
18	9944912	C	T	18	9944915	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0219037507408847	0.374
18	9944913	C	A	18	9944916	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00329041303860966	0.084
18	9944913	C	G	18	9944916	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00944082230474001	0.078
18	9944913	C	T	18	9944916	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.89350854222982E-5	0.02
18	9944914	A	C	18	9944917	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00216925714916994	0.046
18	9944914	A	G	18	9944917	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00397672130886536	0.052
18	9944914	A	T	18	9944917	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00216925714916994	0.094
18	9944915	T	A	18	9944918	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.143668865534484	0.482
18	9944915	T	C	18	9944918	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.54044288834832E-5	0.016
18	9944915	T	G	18	9944918	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999975016635637	0.95
18	9944916	C	A	18	9944919	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.955459937701351	0.592
18	9944916	C	G	18	9944919	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.946900456128871	0.574
18	9944916	C	T	18	9944919	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.194646965841817	0.448
18	9944917	T	A	18	9944920	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.60105903548052	0.504
18	9944917	T	C	18	9944920	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.431980796753697	0.312
18	9944917	T	G	18	9944920	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.634227074632103	0.288
18	9944918	C	A	18	9944921	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999624351791429	0.968
18	9944918	C	G	18	9944921	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.99996064195504	0.992
18	9944918	C	T	18	9944921	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.964180670784439	0.44
18	9944919	A	C	18	9944922	y	y	splicing	VAPA(NM_003574:exon5:c.418-2A>C)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.418-2A>C)	.	.	0.999988247793601	0.944
18	9944919	A	G	18	9944922	y	y	splicing	VAPA(NM_003574:exon5:c.418-2A>G)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.418-2A>G)	.	.	0.999988247793601	0.944
18	9944919	A	T	18	9944922	y	y	splicing	VAPA(NM_003574:exon5:c.418-2A>T)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.418-2A>T)	.	.	0.999988247793601	0.944
18	9944920	G	A	18	9944923	y	y	splicing	VAPA(NM_003574:exon5:c.418-1G>A)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.418-1G>A)	.	.	0.999989072007339	0.942
18	9944920	G	C	18	9944923	y	y	splicing	VAPA(NM_003574:exon5:c.418-1G>C)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.418-1G>C)	.	.	0.999989072007339	0.942
18	9944920	G	T	18	9944923	y	y	splicing	VAPA(NM_003574:exon5:c.418-1G>T)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.418-1G>T)	.	.	0.999989072007339	0.942
18	9944921	G	A	18	9944924	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.G418A:p.G140S;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G418A:p.G140S;	0.999185763514901	0.9
18	9944921	G	C	18	9944924	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.G418C:p.G140R;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G418C:p.G140R;	0.998578065727007	0.932
18	9944921	G	T	18	9944924	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.G418T:p.G140C;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G418T:p.G140C;	0.99987508829111	0.968
18	9944922	G	A	18	9944925	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.G419A:p.G140D;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G419A:p.G140D;	0.114346515495544	0.266
18	9944922	G	C	18	9944925	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.G419C:p.G140A;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G419C:p.G140A;	0.00690035412138178	0.164
18	9944922	G	T	18	9944925	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.G419T:p.G140V;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G419T:p.G140V;	0.974452626881817	0.736
18	9945053	A	C	18	9945056	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.A550C:p.K184Q;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.A550C:p.K184Q;	0.0031205115721788	0.034
18	9945053	A	G	18	9945056	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.A550G:p.K184E;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.A550G:p.K184E;	0.0185252948651703	0.254
18	9945053	A	T	18	9945056	y	y	exonic	VAPA	stopgain SNV	VAPA:NM_003574:exon5:c.A550T:p.K184X;	exonic	ENSG00000101558	stopgain SNV	ENSG00000101558:ENST00000340541:exon5:c.A550T:p.K184X;	0.998948645475062	0.838
18	9945054	A	C	18	9945057	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.A551C:p.K184T;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.A551C:p.K184T;	0.971022810022181	0.574
18	9945054	A	G	18	9945057	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.A551G:p.K184R;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.A551G:p.K184R;	0.998066482041502	0.826
18	9945054	A	T	18	9945057	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.A551T:p.K184M;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.A551T:p.K184M;	0.999944551918124	0.996
18	9945055	G	A	18	9945058	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_003574:exon5:c.G552A:p.K184K;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G552A:p.K184K;	0.999986722169007	1.0
18	9945055	G	C	18	9945058	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.G552C:p.K184N;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G552C:p.K184N;	0.999997042001643	1.0
18	9945055	G	T	18	9945058	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_003574:exon5:c.G552T:p.K184N;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon5:c.G552T:p.K184N;	0.999985704642739	0.998
18	9945056	G	A	18	9945059	y	y	splicing	VAPA(NM_003574:exon5:c.552+1G>A)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.552+1G>A)	.	.	0.999991412108771	0.938
18	9945056	G	C	18	9945059	y	y	splicing	VAPA(NM_003574:exon5:c.552+1G>C)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.552+1G>C)	.	.	0.999991412108771	0.938
18	9945056	G	T	18	9945059	y	y	splicing	VAPA(NM_003574:exon5:c.552+1G>T)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.552+1G>T)	.	.	0.999991412108771	0.938
18	9945057	T	A	18	9945060	y	y	splicing	VAPA(NM_003574:exon5:c.552+2T>A)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.552+2T>A)	.	.	0.999990764389106	0.942
18	9945057	T	C	18	9945060	y	y	splicing	VAPA(NM_003574:exon5:c.552+2T>C)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.552+2T>C)	.	.	0.997025843159503	0.692
18	9945057	T	G	18	9945060	y	y	splicing	VAPA(NM_003574:exon5:c.552+2T>G)	.	.	splicing	ENSG00000101558(ENST00000340541:exon5:c.552+2T>G)	.	.	0.999990764389106	0.942
18	9945058	T	A	18	9945061	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0938536917081708	0.206
18	9945058	T	C	18	9945061	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.848642137525539	0.516
18	9945058	T	G	18	9945061	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.384922067193765	0.314
18	9945059	T	A	18	9945062	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0702117752033917	0.194
18	9945059	T	C	18	9945062	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.857799136742894	0.576
18	9945059	T	G	18	9945062	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.339717680203604	0.316
18	9945060	G	A	18	9945063	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999928445303587	0.994
18	9945060	G	C	18	9945063	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999978623681825	0.998
18	9945060	G	T	18	9945063	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999893062860108	0.966
18	9945061	T	A	18	9945064	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998931566172838	0.784
18	9945061	T	C	18	9945064	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.991981750097694	0.906
18	9945061	T	G	18	9945064	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.995381334643947	0.9
18	9945062	T	A	18	9945065	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.48597127367628E-4	0.0
18	9945062	T	C	18	9945065	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.0321721960452E-4	0.002
18	9945062	T	G	18	9945065	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.96351836942674E-4	0.0
18	9945063	A	C	18	9945066	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.08219224544656E-4	0.0
18	9945063	A	G	18	9945066	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.13352675619964E-4	0.15
18	9945063	A	T	18	9945066	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.08219224544656E-4	0.014
18	9950380	T	A	18	9950383	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.883350643149697	0.62
18	9950380	T	C	18	9950383	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0116346126066638	0.144
18	9950380	T	G	18	9950383	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.849028816533825	0.562
18	9950381	T	A	18	9950384	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.930316643367273	0.688
18	9950381	T	C	18	9950384	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0361995793714725	0.212
18	9950381	T	G	18	9950384	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.805609521025319	0.576
18	9950382	T	A	18	9950385	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999925207731148	0.962
18	9950382	T	C	18	9950385	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00145103451932409	0.032
18	9950382	T	G	18	9950385	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.910983785823927	0.68
18	9950383	G	A	18	9950386	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	7.84675137450102E-5	0.016
18	9950383	G	C	18	9950386	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.10113676554854E-5	0.0
18	9950383	G	T	18	9950386	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.61653917903229E-5	0.006
18	9950384	T	A	18	9950387	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0513800395548704	0.254
18	9950384	T	C	18	9950387	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	7.43459534414147E-5	0.05
18	9950384	T	G	18	9950387	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.219672691999011	0.46
18	9950385	A	C	18	9950388	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.63367492020142E-5	0.0
18	9950385	A	G	18	9950388	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.64640818996039E-5	0.0
18	9950385	A	T	18	9950388	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.34769502286376E-5	0.0
18	9950386	A	C	18	9950389	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	8.26600643781501E-5	0.006
18	9950386	A	G	18	9950389	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999062305462468	0.988
18	9950386	A	T	18	9950389	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.01977613489196E-4	0.028
18	9950387	T	A	18	9950390	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998724134920245	0.94
18	9950387	T	C	18	9950390	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00188078901955712	0.096
18	9950387	T	G	18	9950390	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.9999155652496	0.958
18	9950388	G	A	18	9950391	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.31648335833226E-4	0.014
18	9950388	G	C	18	9950391	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.93417862482539E-5	0.044
18	9950388	G	T	18	9950391	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.88048091193797E-5	0.004
18	9950389	C	A	18	9950392	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999258907613369	0.88
18	9950389	C	G	18	9950392	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998970184489781	0.762
18	9950389	C	T	18	9950392	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0191738904869909	0.188
18	9950390	A	C	18	9950393	y	y	splicing	VAPA(NM_003574:exon6:c.553-2A>C;NM_194434:exon5:c.418-2A>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.418-2A>C;ENST00000340541:exon6:c.553-2A>C)	.	.	0.999955202219928	0.922
18	9950390	A	G	18	9950393	y	y	splicing	VAPA(NM_003574:exon6:c.553-2A>G;NM_194434:exon5:c.418-2A>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.418-2A>G;ENST00000340541:exon6:c.553-2A>G)	.	.	0.999955202219928	0.924
18	9950390	A	T	18	9950393	y	y	splicing	VAPA(NM_003574:exon6:c.553-2A>T;NM_194434:exon5:c.418-2A>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.418-2A>T;ENST00000340541:exon6:c.553-2A>T)	.	.	0.999955202219928	0.924
18	9950391	G	A	18	9950394	y	y	splicing	VAPA(NM_003574:exon6:c.553-1G>A;NM_194434:exon5:c.418-1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.418-1G>A;ENST00000340541:exon6:c.553-1G>A)	.	.	0.999976638640456	0.9
18	9950391	G	C	18	9950394	y	y	splicing	VAPA(NM_003574:exon6:c.553-1G>C;NM_194434:exon5:c.418-1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.418-1G>C;ENST00000340541:exon6:c.553-1G>C)	.	.	0.999976638640456	0.9
18	9950391	G	T	18	9950394	y	y	splicing	VAPA(NM_003574:exon6:c.553-1G>T;NM_194434:exon5:c.418-1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.418-1G>T;ENST00000340541:exon6:c.553-1G>T)	.	.	0.999976638640456	0.9
18	9950392	A	C	18	9950395	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A418C:p.N140H;VAPA:NM_003574:exon6:c.A553C:p.N185H;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A553C:p.N185H;ENSG00000101558:ENST00000400000:exon5:c.A418C:p.N140H;	0.00508625667819368	0.148
18	9950392	A	G	18	9950395	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A418G:p.N140D;VAPA:NM_003574:exon6:c.A553G:p.N185D;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A553G:p.N185D;ENSG00000101558:ENST00000400000:exon5:c.A418G:p.N140D;	7.46823690998971E-4	0.024
18	9950392	A	T	18	9950395	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A418T:p.N140Y;VAPA:NM_003574:exon6:c.A553T:p.N185Y;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A553T:p.N185Y;ENSG00000101558:ENST00000400000:exon5:c.A418T:p.N140Y;	0.132698090124829	0.31
18	9950393	A	C	18	9950396	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A419C:p.N140T;VAPA:NM_003574:exon6:c.A554C:p.N185T;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A554C:p.N185T;ENSG00000101558:ENST00000400000:exon5:c.A419C:p.N140T;	0.00152230060139344	0.172
18	9950393	A	G	18	9950396	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A419G:p.N140S;VAPA:NM_003574:exon6:c.A554G:p.N185S;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A554G:p.N185S;ENSG00000101558:ENST00000400000:exon5:c.A419G:p.N140S;	0.00240508230248201	0.052
18	9950393	A	T	18	9950396	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A419T:p.N140I;VAPA:NM_003574:exon6:c.A554T:p.N185I;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A554T:p.N185I;ENSG00000101558:ENST00000400000:exon5:c.A419T:p.N140I;	0.00222862416772485	0.06
18	9950563	A	C	18	9950566	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon5:c.A589C:p.R197R;VAPA:NM_003574:exon6:c.A724C:p.R242R;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A724C:p.R242R;ENSG00000101558:ENST00000400000:exon5:c.A589C:p.R197R;	0.843365893372092	0.544
18	9950563	A	G	18	9950566	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A589G:p.R197G;VAPA:NM_003574:exon6:c.A724G:p.R242G;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A724G:p.R242G;ENSG00000101558:ENST00000400000:exon5:c.A589G:p.R197G;	0.485260467485604	0.528
18	9950563	A	T	18	9950566	y	y	exonic	VAPA	stopgain SNV	VAPA:NM_194434:exon5:c.A589T:p.R197X;VAPA:NM_003574:exon6:c.A724T:p.R242X;	exonic	ENSG00000101558	stopgain SNV	ENSG00000101558:ENST00000340541:exon6:c.A724T:p.R242X;ENSG00000101558:ENST00000400000:exon5:c.A589T:p.R197X;	0.981139213566522	0.652
18	9950564	G	A	18	9950567	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.G590A:p.R197K;VAPA:NM_003574:exon6:c.G725A:p.R242K;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.G725A:p.R242K;ENSG00000101558:ENST00000400000:exon5:c.G590A:p.R197K;	9.89079840128742E-5	0.064
18	9950564	G	C	18	9950567	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.G590C:p.R197T;VAPA:NM_003574:exon6:c.G725C:p.R242T;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.G725C:p.R242T;ENSG00000101558:ENST00000400000:exon5:c.G590C:p.R197T;	3.5468892016374E-4	0.144
18	9950564	G	T	18	9950567	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.G590T:p.R197I;VAPA:NM_003574:exon6:c.G725T:p.R242I;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.G725T:p.R242I;ENSG00000101558:ENST00000400000:exon5:c.G590T:p.R197I;	8.42254439713261E-4	0.046
18	9950565	A	C	18	9950568	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A591C:p.R197S;VAPA:NM_003574:exon6:c.A726C:p.R242S;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A726C:p.R242S;ENSG00000101558:ENST00000400000:exon5:c.A591C:p.R197S;	0.00292367132883792	0.11
18	9950565	A	G	18	9950568	y	y	exonic	VAPA	synonymous SNV	VAPA:NM_194434:exon5:c.A591G:p.R197R;VAPA:NM_003574:exon6:c.A726G:p.R242R;	exonic	ENSG00000101558	synonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A726G:p.R242R;ENSG00000101558:ENST00000400000:exon5:c.A591G:p.R197R;	2.1934399861539E-4	0.07
18	9950565	A	T	18	9950568	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon5:c.A591T:p.R197S;VAPA:NM_003574:exon6:c.A726T:p.R242S;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon6:c.A726T:p.R242S;ENSG00000101558:ENST00000400000:exon5:c.A591T:p.R197S;	0.0666747719193644	0.152
18	9950566	G	A	18	9950569	y	y	splicing	VAPA(NM_003574:exon6:c.726+1G>A;NM_194434:exon5:c.591+1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.591+1G>A;ENST00000340541:exon6:c.726+1G>A)	.	.	0.999990361384395	0.938
18	9950566	G	C	18	9950569	y	y	splicing	VAPA(NM_003574:exon6:c.726+1G>C;NM_194434:exon5:c.591+1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.591+1G>C;ENST00000340541:exon6:c.726+1G>C)	.	.	0.999990361384395	0.938
18	9950566	G	T	18	9950569	y	y	splicing	VAPA(NM_003574:exon6:c.726+1G>T;NM_194434:exon5:c.591+1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.591+1G>T;ENST00000340541:exon6:c.726+1G>T)	.	.	0.999990361384395	0.938
18	9950567	T	A	18	9950570	y	y	splicing	VAPA(NM_003574:exon6:c.726+2T>A;NM_194434:exon5:c.591+2T>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.591+2T>A;ENST00000340541:exon6:c.726+2T>A)	.	.	0.999988247793601	0.93
18	9950567	T	C	18	9950570	y	y	splicing	VAPA(NM_003574:exon6:c.726+2T>C;NM_194434:exon5:c.591+2T>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.591+2T>C;ENST00000340541:exon6:c.726+2T>C)	.	.	0.99340600729494	0.688
18	9950567	T	G	18	9950570	y	y	splicing	VAPA(NM_003574:exon6:c.726+2T>G;NM_194434:exon5:c.591+2T>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon5:c.591+2T>G;ENST00000340541:exon6:c.726+2T>G)	.	.	0.999988247793601	0.93
18	9950568	A	C	18	9950571	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999805030263988	0.84
18	9950568	A	G	18	9950571	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.116208262782454	0.416
18	9950568	A	T	18	9950571	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.99976658026767	0.858
18	9950569	A	C	18	9950572	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999570715450532	0.938
18	9950569	A	G	18	9950572	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999442983671543	0.99
18	9950569	A	T	18	9950572	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999582709057643	0.914
18	9950570	G	A	18	9950573	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999962961417217	1.0
18	9950570	G	C	18	9950573	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999965000002604	0.988
18	9950570	G	T	18	9950573	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.999965000002604	0.988
18	9950571	T	A	18	9950574	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.996063401733128	0.696
18	9950571	T	C	18	9950574	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.995990522569572	0.906
18	9950571	T	G	18	9950574	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.998223231441338	0.958
18	9950572	T	A	18	9950575	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.44101131779512E-5	0.044
18	9950572	T	C	18	9950575	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.30075337299485E-4	0.03
18	9950572	T	G	18	9950575	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.30075337299485E-4	0.036
18	9950573	C	A	18	9950576	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.25248505924395E-5	0.002
18	9950573	C	G	18	9950576	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.50918501286279E-5	0.0
18	9950573	C	T	18	9950576	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.25248505924395E-5	0.002
18	9954038	T	A	18	9954041	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.27907226042833E-4	0.066
18	9954038	T	C	18	9954041	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.44198461864719E-4	0.014
18	9954038	T	G	18	9954041	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.37834348667168E-4	0.07
18	9954039	T	A	18	9954042	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.6941029035961E-4	0.114
18	9954039	T	C	18	9954042	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	7.86988064666643E-5	0.012
18	9954039	T	G	18	9954042	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.53345952879416E-4	0.126
18	9954040	T	A	18	9954043	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.97050483094096E-4	0.078
18	9954040	T	C	18	9954043	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.85306835912601E-5	0.014
18	9954040	T	G	18	9954043	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.98349510142263E-4	0.074
18	9954041	T	A	18	9954044	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	9.64891644028271E-4	0.124
18	9954041	T	C	18	9954044	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.05922628793785E-4	0.034
18	9954041	T	G	18	9954044	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.43801699326357E-4	0.158
18	9954042	T	A	18	9954045	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.93048764083455E-4	0.038
18	9954042	T	C	18	9954045	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.36447209734015E-5	0.008
18	9954042	T	G	18	9954045	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.46579198567856E-4	0.044
18	9954043	T	A	18	9954046	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.6404746675895E-4	0.024
18	9954043	T	C	18	9954046	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.4097798460229E-5	0.0
18	9954043	T	G	18	9954046	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	6.22861671911423E-5	0.04
18	9954044	T	A	18	9954047	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.00243901787328753	0.098
18	9954044	T	C	18	9954047	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.10738321622669E-5	0.0
18	9954044	T	G	18	9954047	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.49897851163736E-4	0.074
18	9954045	T	A	18	9954048	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	1.7798527874728E-4	0.006
18	9954045	T	C	18	9954048	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.88347004915637E-5	0.008
18	9954045	T	G	18	9954048	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	5.81198159623462E-4	0.084
18	9954046	C	A	18	9954049	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	2.90981779592147E-4	0.032
18	9954046	C	G	18	9954049	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.54342353622783E-4	0.048
18	9954046	C	T	18	9954049	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	3.75391422679509E-4	0.032
18	9954047	T	A	18	9954050	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.0154440236608045	0.18
18	9954047	T	C	18	9954050	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	4.09751740085495E-5	0.026
18	9954047	T	G	18	9954050	y	y	intronic	VAPA	.	.	intronic	ENSG00000101558	.	.	0.31404315490223	0.402
18	9954048	A	C	18	9954051	y	y	splicing	VAPA(NM_003574:exon7:c.727-2A>C;NM_194434:exon6:c.592-2A>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon6:c.592-2A>C;ENST00000340541:exon7:c.727-2A>C)	.	.	0.999989917668626	0.926
18	9954048	A	G	18	9954051	y	y	splicing	VAPA(NM_003574:exon7:c.727-2A>G;NM_194434:exon6:c.592-2A>G)	.	.	splicing	ENSG00000101558(ENST00000400000:exon6:c.592-2A>G;ENST00000340541:exon7:c.727-2A>G)	.	.	0.999989917668626	0.926
18	9954048	A	T	18	9954051	y	y	splicing	VAPA(NM_003574:exon7:c.727-2A>T;NM_194434:exon6:c.592-2A>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon6:c.592-2A>T;ENST00000340541:exon7:c.727-2A>T)	.	.	0.999989917668626	0.926
18	9954049	G	A	18	9954052	y	y	splicing	VAPA(NM_003574:exon7:c.727-1G>A;NM_194434:exon6:c.592-1G>A)	.	.	splicing	ENSG00000101558(ENST00000400000:exon6:c.592-1G>A;ENST00000340541:exon7:c.727-1G>A)	.	.	0.999981760802075	0.936
18	9954049	G	C	18	9954052	y	y	splicing	VAPA(NM_003574:exon7:c.727-1G>C;NM_194434:exon6:c.592-1G>C)	.	.	splicing	ENSG00000101558(ENST00000400000:exon6:c.592-1G>C;ENST00000340541:exon7:c.727-1G>C)	.	.	0.999981760802075	0.936
18	9954049	G	T	18	9954052	y	y	splicing	VAPA(NM_003574:exon7:c.727-1G>T;NM_194434:exon6:c.592-1G>T)	.	.	splicing	ENSG00000101558(ENST00000400000:exon6:c.592-1G>T;ENST00000340541:exon7:c.727-1G>T)	.	.	0.999981760802075	0.936
18	9954050	G	A	18	9954053	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon6:c.G592A:p.D198N;VAPA:NM_003574:exon7:c.G727A:p.D243N;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon7:c.G727A:p.D243N;ENSG00000101558:ENST00000400000:exon6:c.G592A:p.D198N;	0.996478423358901	0.896
18	9954050	G	C	18	9954053	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon6:c.G592C:p.D198H;VAPA:NM_003574:exon7:c.G727C:p.D243H;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon7:c.G727C:p.D243H;ENSG00000101558:ENST00000400000:exon6:c.G592C:p.D198H;	0.999733547908944	0.924
18	9954050	G	T	18	9954053	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon6:c.G592T:p.D198Y;VAPA:NM_003574:exon7:c.G727T:p.D243Y;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon7:c.G727T:p.D243Y;ENSG00000101558:ENST00000400000:exon6:c.G592T:p.D198Y;	0.999773116908584	0.934
18	9954051	A	C	18	9954054	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon6:c.A593C:p.D198A;VAPA:NM_003574:exon7:c.A728C:p.D243A;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon7:c.A728C:p.D243A;ENSG00000101558:ENST00000400000:exon6:c.A593C:p.D198A;	0.798299816559961	0.742
18	9954051	A	G	18	9954054	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon6:c.A593G:p.D198G;VAPA:NM_003574:exon7:c.A728G:p.D243G;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon7:c.A728G:p.D243G;ENSG00000101558:ENST00000400000:exon6:c.A593G:p.D198G;	0.760241718814533	0.596
18	9954051	A	T	18	9954054	y	y	exonic	VAPA	nonsynonymous SNV	VAPA:NM_194434:exon6:c.A593T:p.D198V;VAPA:NM_003574:exon7:c.A728T:p.D243V;	exonic	ENSG00000101558	nonsynonymous SNV	ENSG00000101558:ENST00000340541:exon7:c.A728T:p.D243V;ENSG00000101558:ENST00000400000:exon6:c.A593T:p.D198V;	0.674475654336318	0.748
18	10455034	A	C	18	10455037	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon1:c.A56C:p.H19P;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon1:c.A56C:p.H19P;ENSG00000154856:ENST00000578882:exon1:c.A56C:p.H19P;ENSG00000154856:ENST00000423585:exon1:c.A56C:p.H19P;ENSG00000154856:ENST00000355285:exon1:c.A56C:p.H19P;	0.00145117140961595	0.032
18	10455034	A	G	18	10455037	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon1:c.A56G:p.H19R;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon1:c.A56G:p.H19R;ENSG00000154856:ENST00000578882:exon1:c.A56G:p.H19R;ENSG00000154856:ENST00000423585:exon1:c.A56G:p.H19R;ENSG00000154856:ENST00000355285:exon1:c.A56G:p.H19R;	0.0024822034613768	0.032
18	10455034	A	T	18	10455037	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon1:c.A56T:p.H19L;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon1:c.A56T:p.H19L;ENSG00000154856:ENST00000578882:exon1:c.A56T:p.H19L;ENSG00000154856:ENST00000423585:exon1:c.A56T:p.H19L;ENSG00000154856:ENST00000355285:exon1:c.A56T:p.H19L;	0.00430488330661068	0.162
18	10455035	C	A	18	10455038	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon1:c.C57A:p.H19Q;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon1:c.C57A:p.H19Q;ENSG00000154856:ENST00000578882:exon1:c.C57A:p.H19Q;ENSG00000154856:ENST00000423585:exon1:c.C57A:p.H19Q;ENSG00000154856:ENST00000355285:exon1:c.C57A:p.H19Q;	0.00225142191100294	0.13
18	10455035	C	G	18	10455038	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon1:c.C57G:p.H19Q;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon1:c.C57G:p.H19Q;ENSG00000154856:ENST00000578882:exon1:c.C57G:p.H19Q;ENSG00000154856:ENST00000423585:exon1:c.C57G:p.H19Q;ENSG00000154856:ENST00000355285:exon1:c.C57G:p.H19Q;	0.00980520577417945	0.076
18	10455035	C	T	18	10455038	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon1:c.C57T:p.H19H;	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000582723:exon1:c.C57T:p.H19H;ENSG00000154856:ENST00000578882:exon1:c.C57T:p.H19H;ENSG00000154856:ENST00000423585:exon1:c.C57T:p.H19H;ENSG00000154856:ENST00000355285:exon1:c.C57T:p.H19H;	0.0117088984793471	0.07
18	10455036	G	A	18	10455039	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon1:c.G58A:p.G20R;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon1:c.G58A:p.A20T;ENSG00000154856:ENST00000578882:exon1:c.G58A:p.G20R;ENSG00000154856:ENST00000423585:exon1:c.G58A:p.E20K;ENSG00000154856:ENST00000355285:exon1:c.G58A:p.G20R;	0.999390257147282	0.938
18	10455036	G	C	18	10455039	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon1:c.G58C:p.G20R;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon1:c.G58C:p.A20P;ENSG00000154856:ENST00000578882:exon1:c.G58C:p.G20R;ENSG00000154856:ENST00000423585:exon1:c.G58C:p.E20Q;ENSG00000154856:ENST00000355285:exon1:c.G58C:p.G20R;	0.999873276085681	0.934
18	10455036	G	T	18	10455039	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon1:c.G58T:p.G20W;	exonic	ENSG00000154856	stopgain SNV	ENSG00000154856:ENST00000423585:exon1:c.G58T:p.E20X;	0.999916063403561	0.972
18	10455037	G	A	18	10455040	y	y	splicing	APCDD1(NM_153000:exon1:c.58+1G>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon1:c.58+1G>A;ENST00000423585:exon1:c.58+1G>A;ENST00000582723:exon1:c.58+1G>A;ENST00000578882:exon1:c.58+1G>A)	.	.	0.999993672935256	0.928
18	10455037	G	C	18	10455040	y	y	splicing	APCDD1(NM_153000:exon1:c.58+1G>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon1:c.58+1G>C;ENST00000423585:exon1:c.58+1G>C;ENST00000582723:exon1:c.58+1G>C;ENST00000578882:exon1:c.58+1G>C)	.	.	0.999993672935256	0.926
18	10455037	G	T	18	10455040	y	y	splicing	APCDD1(NM_153000:exon1:c.58+1G>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon1:c.58+1G>T;ENST00000423585:exon1:c.58+1G>T;ENST00000582723:exon1:c.58+1G>T;ENST00000578882:exon1:c.58+1G>T)	.	.	0.999993672935256	0.926
18	10455038	T	A	18	10455041	y	y	splicing	APCDD1(NM_153000:exon1:c.58+2T>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon1:c.58+2T>A;ENST00000423585:exon1:c.58+2T>A;ENST00000582723:exon1:c.58+2T>A;ENST00000578882:exon1:c.58+2T>A)	.	.	0.999994723900236	0.93
18	10455038	T	C	18	10455041	y	y	splicing	APCDD1(NM_153000:exon1:c.58+2T>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon1:c.58+2T>C;ENST00000423585:exon1:c.58+2T>C;ENST00000582723:exon1:c.58+2T>C;ENST00000578882:exon1:c.58+2T>C)	.	.	0.999952841816934	0.854
18	10455038	T	G	18	10455041	y	y	splicing	APCDD1(NM_153000:exon1:c.58+2T>G)	.	.	splicing	ENSG00000154856(ENST00000355285:exon1:c.58+2T>G;ENST00000423585:exon1:c.58+2T>G;ENST00000582723:exon1:c.58+2T>G;ENST00000578882:exon1:c.58+2T>G)	.	.	0.999994723900236	0.928
18	10455039	G	A	18	10455042	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.194790372886241	0.484
18	10455039	G	C	18	10455042	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.99745150519801	0.82
18	10455039	G	T	18	10455042	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.979482458706851	0.732
18	10455040	A	C	18	10455043	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.990976475430359	0.812
18	10455040	A	G	18	10455043	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999179203971589	0.868
18	10455040	A	T	18	10455043	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.998883902778498	0.86
18	10455041	G	A	18	10455044	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999917604251527	0.882
18	10455041	G	C	18	10455044	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999877482450623	0.974
18	10455041	G	T	18	10455044	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999749987749263	0.798
18	10455042	T	A	18	10455045	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.982496554835809	0.676
18	10455042	T	C	18	10455045	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.970686368199362	0.562
18	10455042	T	G	18	10455045	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.964303173328955	0.548
18	10455043	T	A	18	10455046	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.89913571525886E-4	0.018
18	10455043	T	C	18	10455046	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.89913571525886E-4	0.016
18	10455043	T	G	18	10455046	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.32172128294496E-4	0.022
18	10455044	C	A	18	10455047	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.48474212057213E-4	0.05
18	10455044	C	G	18	10455047	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.71916187854189E-4	0.014
18	10455044	C	T	18	10455047	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.36585576449393E-4	0.064
18	10468454	T	A	18	10468457	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	6.93242363463942E-5	0.126
18	10468454	T	C	18	10468457	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.63928772271758E-5	0.002
18	10468454	T	G	18	10468457	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	8.97979858019151E-5	0.076
18	10468455	T	A	18	10468458	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.86205215942601E-4	0.132
18	10468455	T	C	18	10468458	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.5369467992322E-4	0.054
18	10468455	T	G	18	10468458	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.09248649025192E-4	0.142
18	10468456	T	A	18	10468459	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00871948986469931	0.216
18	10468456	T	C	18	10468459	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.72306480385383E-4	0.014
18	10468456	T	G	18	10468459	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00319162542616843	0.23
18	10468457	A	C	18	10468460	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	6.73002864602581E-6	0.0
18	10468457	A	G	18	10468460	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	6.03493795335631E-5	0.004
18	10468457	A	T	18	10468460	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.0359873711335E-5	0.004
18	10468458	T	A	18	10468461	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.07628699679621E-5	0.014
18	10468458	T	C	18	10468461	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.24808111717285E-5	0.004
18	10468458	T	G	18	10468461	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.99670003252218	0.97
18	10468459	T	A	18	10468462	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.1230220520808E-4	0.04
18	10468459	T	C	18	10468462	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	6.38923853996243E-5	0.002
18	10468459	T	G	18	10468462	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.70953630988648E-4	0.042
18	10468460	T	A	18	10468463	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00301311674540578	0.108
18	10468460	T	C	18	10468463	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.4987068810524E-4	0.012
18	10468460	T	G	18	10468463	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00359346646464002	0.132
18	10468461	T	A	18	10468464	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0858003144947959	0.458
18	10468461	T	C	18	10468464	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0106443138243626	0.112
18	10468461	T	G	18	10468464	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0782027998542383	0.462
18	10468462	T	A	18	10468465	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.99721537084642E-5	0.004
18	10468462	T	C	18	10468465	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.87317694993746E-5	0.006
18	10468462	T	G	18	10468465	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.78804358662179E-5	0.008
18	10468463	C	A	18	10468466	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0393623011348192	0.302
18	10468463	C	G	18	10468466	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.990922320334917	0.664
18	10468463	C	T	18	10468466	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.96826985399598E-5	0.01
18	10468464	A	C	18	10468467	y	y	splicing	APCDD1(NM_153000:exon2:c.59-2A>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.59-2A>C;ENST00000578882:exon2:c.59-2A>C)	.	.	0.99984060222425	0.746
18	10468464	A	G	18	10468467	y	y	splicing	APCDD1(NM_153000:exon2:c.59-2A>G)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.59-2A>G;ENST00000578882:exon2:c.59-2A>G)	.	.	0.99984060222425	0.746
18	10468464	A	T	18	10468467	y	y	splicing	APCDD1(NM_153000:exon2:c.59-2A>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.59-2A>T;ENST00000578882:exon2:c.59-2A>T)	.	.	0.99984060222425	0.744
18	10468465	G	A	18	10468468	y	y	splicing	APCDD1(NM_153000:exon2:c.59-1G>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.59-1G>A;ENST00000578882:exon2:c.59-1G>A)	.	.	0.999962153403958	0.852
18	10468465	G	C	18	10468468	y	y	splicing	APCDD1(NM_153000:exon2:c.59-1G>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.59-1G>C;ENST00000578882:exon2:c.59-1G>C)	.	.	0.999954401362567	0.86
18	10468465	G	T	18	10468468	y	y	splicing	APCDD1(NM_153000:exon2:c.59-1G>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.59-1G>T;ENST00000578882:exon2:c.59-1G>T)	.	.	0.999962153403958	0.862
18	10468466	G	A	18	10468469	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G59A:p.G20E;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G59A:p.G20E;ENSG00000154856:ENST00000355285:exon2:c.G59A:p.G20E;	0.0738259209147962	0.488
18	10468466	G	C	18	10468469	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G59C:p.G20A;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G59C:p.G20A;ENSG00000154856:ENST00000355285:exon2:c.G59C:p.G20A;	0.116009854107451	0.456
18	10468466	G	T	18	10468469	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G59T:p.G20V;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G59T:p.G20V;ENSG00000154856:ENST00000355285:exon2:c.G59T:p.G20V;	0.423094496087452	0.468
18	10468467	G	A	18	10468470	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon2:c.G60A:p.G20G;	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G60A:p.G20G;ENSG00000154856:ENST00000355285:exon2:c.G60A:p.G20G;	0.00126239234125009	0.058
18	10468467	G	C	18	10468470	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon2:c.G60C:p.G20G;	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G60C:p.G20G;ENSG00000154856:ENST00000355285:exon2:c.G60C:p.G20G;	0.00109825910869465	0.046
18	10468467	G	T	18	10468470	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon2:c.G60T:p.G20G;	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G60T:p.G20G;ENSG00000154856:ENST00000355285:exon2:c.G60T:p.G20G;	6.74216152111206E-4	0.04
18	10468647	A	C	18	10468650	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon2:c.A240C:p.T80T;	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.A240C:p.T80T;ENSG00000154856:ENST00000355285:exon2:c.A240C:p.T80T;	7.24916063886515E-6	0.01
18	10468647	A	G	18	10468650	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon2:c.A240G:p.T80T;	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.A240G:p.T80T;ENSG00000154856:ENST00000355285:exon2:c.A240G:p.T80T;	2.3695999634568E-5	0.008
18	10468647	A	T	18	10468650	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon2:c.A240T:p.T80T;	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.A240T:p.T80T;ENSG00000154856:ENST00000355285:exon2:c.A240T:p.T80T;	3.14227454202336E-5	0.064
18	10468648	G	A	18	10468651	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G241A:p.G81S;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G241A:p.G81S;ENSG00000154856:ENST00000355285:exon2:c.G241A:p.G81S;	0.0037887995983375	0.052
18	10468648	G	C	18	10468651	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G241C:p.G81R;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G241C:p.G81R;ENSG00000154856:ENST00000355285:exon2:c.G241C:p.G81R;	0.0102102118014875	0.056
18	10468648	G	T	18	10468651	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G241T:p.G81C;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G241T:p.G81C;ENSG00000154856:ENST00000355285:exon2:c.G241T:p.G81C;	0.0102592341091053	0.082
18	10468649	G	A	18	10468652	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G242A:p.G81D;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G242A:p.G81D;ENSG00000154856:ENST00000355285:exon2:c.G242A:p.G81D;	0.999732783227678	0.986
18	10468649	G	C	18	10468652	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G242C:p.G81A;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G242C:p.G81A;ENSG00000154856:ENST00000355285:exon2:c.G242C:p.G81A;	0.999650118783412	0.93
18	10468649	G	T	18	10468652	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon2:c.G242T:p.G81V;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon2:c.G242T:p.G81V;ENSG00000154856:ENST00000355285:exon2:c.G242T:p.G81V;	0.999651929194129	0.98
18	10468650	G	A	18	10468653	y	y	splicing	APCDD1(NM_153000:exon2:c.242+1G>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.242+1G>A;ENST00000578882:exon2:c.242+1G>A)	.	.	0.999985532734767	0.934
18	10468650	G	C	18	10468653	y	y	splicing	APCDD1(NM_153000:exon2:c.242+1G>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.242+1G>C;ENST00000578882:exon2:c.242+1G>C)	.	.	0.999985532734767	0.934
18	10468650	G	T	18	10468653	y	y	splicing	APCDD1(NM_153000:exon2:c.242+1G>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.242+1G>T;ENST00000578882:exon2:c.242+1G>T)	.	.	0.999985532734767	0.934
18	10468651	T	A	18	10468654	y	y	splicing	APCDD1(NM_153000:exon2:c.242+2T>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.242+2T>A;ENST00000578882:exon2:c.242+2T>A)	.	.	0.999989917668626	0.926
18	10468651	T	C	18	10468654	y	y	splicing	APCDD1(NM_153000:exon2:c.242+2T>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.242+2T>C;ENST00000578882:exon2:c.242+2T>C)	.	.	0.999905519991901	0.886
18	10468651	T	G	18	10468654	y	y	splicing	APCDD1(NM_153000:exon2:c.242+2T>G)	.	.	splicing	ENSG00000154856(ENST00000355285:exon2:c.242+2T>G;ENST00000578882:exon2:c.242+2T>G)	.	.	0.999986903042585	0.928
18	10468652	A	C	18	10468655	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.997678776940426	0.89
18	10468652	A	G	18	10468655	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0501591488127811	0.318
18	10468652	A	T	18	10468655	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999076457607331	0.78
18	10468653	A	C	18	10468656	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.409884909661153	0.318
18	10468653	A	G	18	10468656	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.687144667262973	0.528
18	10468653	A	T	18	10468656	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.515672144987624	0.464
18	10468654	G	A	18	10468657	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.817120318990115	0.524
18	10468654	G	C	18	10468657	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.958588109014661	0.628
18	10468654	G	T	18	10468657	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.915928880688716	0.49
18	10468655	A	C	18	10468658	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.9803310736574E-5	0.006
18	10468655	A	G	18	10468658	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.49133384544372E-6	0.0
18	10468655	A	T	18	10468658	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.12066595827114E-5	0.01
18	10468656	G	A	18	10468659	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.02716444213477E-5	0.002
18	10468656	G	C	18	10468659	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.02716444213477E-5	0.002
18	10468656	G	T	18	10468659	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.45805985153584E-5	0.002
18	10468657	G	A	18	10468660	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.04321737496789E-5	0.004
18	10468657	G	C	18	10468660	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.85047789963066E-6	0.004
18	10468657	G	T	18	10468660	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.04321737496789E-5	0.006
18	10471515	T	A	18	10471518	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	6.22668437786692E-4	0.164
18	10471515	T	C	18	10471518	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.90116287664183E-4	0.004
18	10471515	T	G	18	10471518	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0010572582886469	0.164
18	10471516	T	A	18	10471519	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00539383075737568	0.236
18	10471516	T	C	18	10471519	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.17813440719413E-4	0.06
18	10471516	T	G	18	10471519	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.89181279648881E-4	0.172
18	10471517	T	A	18	10471520	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00109746636902327	0.08
18	10471517	T	C	18	10471520	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.34339278996158E-4	0.0
18	10471517	T	G	18	10471520	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.20318577124959E-4	0.048
18	10471518	C	A	18	10471521	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.12836755024174E-4	0.042
18	10471518	C	G	18	10471521	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00200789934945359	0.118
18	10471518	C	T	18	10471521	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.76012919438408E-5	0.002
18	10471519	T	A	18	10471522	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00346441354494296	0.088
18	10471519	T	C	18	10471522	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.57115664945115E-4	0.008
18	10471519	T	G	18	10471522	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.25455902649639E-4	0.132
18	10471520	T	A	18	10471523	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999750849261139	0.94
18	10471520	T	C	18	10471523	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.06307301693074E-5	0.0
18	10471520	T	G	18	10471523	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00110471211499732	0.072
18	10471521	G	A	18	10471524	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.92199871774696E-4	0.108
18	10471521	G	C	18	10471524	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	8.43000129014531E-6	0.014
18	10471521	G	T	18	10471524	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.09207475325355E-5	0.008
18	10471522	C	A	18	10471525	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.05892212579559E-4	0.02
18	10471522	C	G	18	10471525	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.63927012177593E-4	0.06
18	10471522	C	T	18	10471525	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.58544167988451E-5	0.0
18	10471523	C	A	18	10471526	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.90406388937939E-5	0.0
18	10471523	C	G	18	10471526	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.04103333401022E-5	0.002
18	10471523	C	T	18	10471526	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.67605180924046E-5	0.0
18	10471524	C	A	18	10471527	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.954086430898635	0.702
18	10471524	C	G	18	10471527	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.99625473705948	0.946
18	10471524	C	T	18	10471527	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0112274392363582	0.132
18	10471525	A	C	18	10471528	y	y	splicing	APCDD1(NM_153000:exon3:c.243-2A>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.243-2A>C;ENST00000582723:exon2:c.59-2A>C;ENST00000578882:exon3:c.243-2A>C)	.	.	0.999986903042585	0.926
18	10471525	A	G	18	10471528	y	y	splicing	APCDD1(NM_153000:exon3:c.243-2A>G)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.243-2A>G;ENST00000582723:exon2:c.59-2A>G;ENST00000578882:exon3:c.243-2A>G)	.	.	0.99998174402319	0.926
18	10471525	A	T	18	10471528	y	y	splicing	APCDD1(NM_153000:exon3:c.243-2A>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.243-2A>T;ENST00000582723:exon2:c.59-2A>T;ENST00000578882:exon3:c.243-2A>T)	.	.	0.999986903042585	0.928
18	10471526	G	A	18	10471529	y	y	splicing	APCDD1(NM_153000:exon3:c.243-1G>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.243-1G>A;ENST00000582723:exon2:c.59-1G>A;ENST00000578882:exon3:c.243-1G>A)	.	.	0.999981760802075	0.942
18	10471526	G	C	18	10471529	y	y	splicing	APCDD1(NM_153000:exon3:c.243-1G>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.243-1G>C;ENST00000582723:exon2:c.59-1G>C;ENST00000578882:exon3:c.243-1G>C)	.	.	0.999981760802075	0.944
18	10471526	G	T	18	10471529	y	y	splicing	APCDD1(NM_153000:exon3:c.243-1G>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.243-1G>T;ENST00000582723:exon2:c.59-1G>T;ENST00000578882:exon3:c.243-1G>T)	.	.	0.999981760802075	0.934
18	10471527	C	A	18	10471530	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon3:c.C243A:p.G81G;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon2:c.C59A:p.A20D;	8.40076129842257E-5	0.006
18	10471527	C	G	18	10471530	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon3:c.C243G:p.G81G;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon2:c.C59G:p.A20G;	2.94859373217165E-4	0.168
18	10471527	C	T	18	10471530	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon3:c.C243T:p.G81G;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000582723:exon2:c.C59T:p.A20V;	0.00108312807106632	0.092
18	10471528	T	A	18	10471531	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.T244A:p.C82S;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon3:c.T244A:p.C82S;ENSG00000154856:ENST00000355285:exon3:c.T244A:p.C82S;	0.0107345046497438	0.15
18	10471528	T	C	18	10471531	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.T244C:p.C82R;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon3:c.T244C:p.C82R;ENSG00000154856:ENST00000355285:exon3:c.T244C:p.C82R;	0.0181158446427533	0.102
18	10471528	T	G	18	10471531	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.T244G:p.C82G;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon3:c.T244G:p.C82G;ENSG00000154856:ENST00000355285:exon3:c.T244G:p.C82G;	7.14235372060726E-4	0.082
18	10472056	A	C	18	10472059	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.A772C:p.K258Q;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon1:c.A53C:p.Q18P;ENSG00000154856:ENST00000355285:exon3:c.A772C:p.K258Q;	5.20458470827735E-4	0.006
18	10472056	A	G	18	10472059	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.A772G:p.K258E;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon1:c.A53G:p.Q18R;ENSG00000154856:ENST00000355285:exon3:c.A772G:p.K258E;	1.44011624217549E-4	0.0
18	10472056	A	T	18	10472059	y	y	exonic	APCDD1	stopgain SNV	APCDD1:NM_153000:exon3:c.A772T:p.K258X;	exonic	ENSG00000154856	stopgain SNV	ENSG00000154856:ENST00000355285:exon3:c.A772T:p.K258X;	0.884145797974397	0.736
18	10472057	A	C	18	10472060	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.A773C:p.K258T;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon1:c.A54C:p.Q18H;ENSG00000154856:ENST00000355285:exon3:c.A773C:p.K258T;	0.69966483499891	0.59
18	10472057	A	G	18	10472060	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.A773G:p.K258R;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000355285:exon3:c.A773G:p.K258R;	0.994672245906612	0.856
18	10472057	A	T	18	10472060	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.A773T:p.K258M;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon1:c.A54T:p.Q18H;ENSG00000154856:ENST00000355285:exon3:c.A773T:p.K258M;	0.998722869839567	0.966
18	10472058	G	A	18	10472061	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon3:c.G774A:p.K258K;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon1:c.G55A:p.V19M;	0.99994759373422	0.998
18	10472058	G	C	18	10472061	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.G774C:p.K258N;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon1:c.G55C:p.V19L;ENSG00000154856:ENST00000355285:exon3:c.G774C:p.K258N;	0.999971824985295	0.98
18	10472058	G	T	18	10472061	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon3:c.G774T:p.K258N;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon1:c.G55T:p.V19L;ENSG00000154856:ENST00000355285:exon3:c.G774T:p.K258N;	0.998864099772636	0.984
18	10472059	G	A	18	10472062	y	y	splicing	APCDD1(NM_153000:exon3:c.774+1G>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.774+1G>A;ENST00000582723:exon2:c.590+1G>A;ENST00000584596:exon1:c.226+1G>A;ENST00000579685:exon1:c.55+1G>A)	.	.	0.999986675681007	0.934
18	10472059	G	C	18	10472062	y	y	splicing	APCDD1(NM_153000:exon3:c.774+1G>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.774+1G>C;ENST00000582723:exon2:c.590+1G>C;ENST00000584596:exon1:c.226+1G>C;ENST00000579685:exon1:c.55+1G>C)	.	.	0.999986675681007	0.934
18	10472059	G	T	18	10472062	y	y	splicing	APCDD1(NM_153000:exon3:c.774+1G>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.774+1G>T;ENST00000582723:exon2:c.590+1G>T;ENST00000584596:exon1:c.226+1G>T;ENST00000579685:exon1:c.55+1G>T)	.	.	0.999986675681007	0.934
18	10472060	T	A	18	10472063	y	y	splicing	APCDD1(NM_153000:exon3:c.774+2T>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.774+2T>A;ENST00000582723:exon2:c.590+2T>A;ENST00000584596:exon1:c.226+2T>A;ENST00000579685:exon1:c.55+2T>A)	.	.	0.999990155693597	0.926
18	10472060	T	C	18	10472063	y	y	splicing	APCDD1(NM_153000:exon3:c.774+2T>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.774+2T>C;ENST00000582723:exon2:c.590+2T>C;ENST00000584596:exon1:c.226+2T>C;ENST00000579685:exon1:c.55+2T>C)	.	.	0.976497765262381	0.598
18	10472060	T	G	18	10472063	y	y	splicing	APCDD1(NM_153000:exon3:c.774+2T>G)	.	.	splicing	ENSG00000154856(ENST00000355285:exon3:c.774+2T>G;ENST00000582723:exon2:c.590+2T>G;ENST00000584596:exon1:c.226+2T>G;ENST00000579685:exon1:c.55+2T>G)	.	.	0.999990155693597	0.926
18	10472061	A	C	18	10472064	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999910410394346	0.978
18	10472061	A	G	18	10472064	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.997212550777979	0.954
18	10472061	A	T	18	10472064	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999942860039019	0.99
18	10472062	C	A	18	10472065	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.45988416811786E-4	0.064
18	10472062	C	G	18	10472065	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.28604683364672E-4	0.132
18	10472062	C	T	18	10472065	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00160964826345647	0.166
18	10472063	C	A	18	10472066	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.03339763575236E-4	0.034
18	10472063	C	G	18	10472066	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.95513869912273E-4	0.04
18	10472063	C	T	18	10472066	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.25958544177391E-4	0.01
18	10472064	T	A	18	10472067	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00131441882954481	0.246
18	10472064	T	C	18	10472067	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00300507506117768	0.284
18	10472064	T	G	18	10472067	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.32888446702619E-4	0.304
18	10472065	C	A	18	10472068	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.3653286279047E-4	0.0
18	10472065	C	G	18	10472068	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.49392443895118E-4	0.018
18	10472065	C	T	18	10472068	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.9839991546052E-4	0.01
18	10472066	A	C	18	10472069	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.32432276431601E-4	0.054
18	10472066	A	G	18	10472069	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.93038868474484E-4	0.014
18	10472066	A	T	18	10472069	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.32432276431601E-4	0.038
18	10474091	T	A	18	10474094	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.42005417025298E-5	0.0
18	10474091	T	C	18	10474094	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.42005417025298E-5	0.0
18	10474091	T	G	18	10474094	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.42005417025298E-5	0.0
18	10474092	T	A	18	10474095	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.58927937202005E-5	0.002
18	10474092	T	C	18	10474095	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.58927937202005E-5	0.002
18	10474092	T	G	18	10474095	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.58927937202005E-5	0.002
18	10474093	G	A	18	10474096	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.58927937202005E-5	0.002
18	10474093	G	C	18	10474096	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.0288925866825E-5	0.004
18	10474093	G	T	18	10474096	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.0288925866825E-5	0.002
18	10474094	T	A	18	10474097	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.27163650926202E-4	0.02
18	10474094	T	C	18	10474097	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474094	T	G	18	10474097	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474095	A	C	18	10474098	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474095	A	G	18	10474098	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474095	A	T	18	10474098	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474096	T	A	18	10474099	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474096	T	C	18	10474099	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474096	T	G	18	10474099	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474097	T	A	18	10474100	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.58927937202005E-5	0.002
18	10474097	T	C	18	10474100	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.0288925866825E-5	0.002
18	10474097	T	G	18	10474100	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.0288925866825E-5	0.002
18	10474098	T	A	18	10474101	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474098	T	C	18	10474101	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474098	T	G	18	10474101	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.57123356397867E-5	0.014
18	10474099	T	A	18	10474102	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.58927937202005E-5	0.002
18	10474099	T	C	18	10474102	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.0288925866825E-5	0.002
18	10474099	T	G	18	10474102	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.0288925866825E-5	0.002
18	10474100	T	A	18	10474103	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.99153316237132E-5	0.0
18	10474100	T	C	18	10474103	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.99153316237132E-5	0.0
18	10474100	T	G	18	10474103	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.99153316237132E-5	0.0
18	10474101	A	C	18	10474104	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.56-2A>C)	.	.	1.58927937202005E-5	0.002
18	10474101	A	G	18	10474104	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.56-2A>G)	.	.	1.58927937202005E-5	0.002
18	10474101	A	T	18	10474104	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.56-2A>T)	.	.	1.58927937202005E-5	0.002
18	10474102	G	A	18	10474105	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.56-1G>A)	.	.	9.57123356397867E-5	0.014
18	10474102	G	C	18	10474105	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.56-1G>C)	.	.	9.57123356397867E-5	0.014
18	10474102	G	T	18	10474105	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.56-1G>T)	.	.	9.57123356397867E-5	0.014
18	10474103	T	A	18	10474106	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.T56A:p.V19E;	1.58927937202005E-5	0.002
18	10474103	T	C	18	10474106	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.T56C:p.V19A;	1.58927937202005E-5	0.002
18	10474103	T	G	18	10474106	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.T56G:p.V19G;	1.0288925866825E-5	0.002
18	10474104	G	A	18	10474107	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.G57A:p.V19V;	1.63709697066248E-5	0.0
18	10474104	G	C	18	10474107	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.G57C:p.V19V;	1.63709697066248E-5	0.0
18	10474104	G	T	18	10474107	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.G57T:p.V19V;	1.63709697066248E-5	0.0
18	10474242	C	A	18	10474245	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.C195A:p.L65L;	9.72760553213487E-5	0.002
18	10474242	C	G	18	10474245	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.C195G:p.L65L;	4.09828708177445E-5	0.0
18	10474242	C	T	18	10474245	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.C195T:p.L65L;	9.72760553213487E-5	0.0
18	10474243	A	C	18	10474246	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	synonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.A196C:p.R66R;	3.78864525412067E-5	0.0
18	10474243	A	G	18	10474246	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.A196G:p.R66G;	8.49702646665041E-5	0.004
18	10474243	A	T	18	10474246	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	stopgain SNV	ENSG00000154856:ENST00000579685:exon2:c.A196T:p.R66X;	1.83786109792972E-4	0.026
18	10474244	G	A	18	10474247	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.G197A:p.R66K;	2.3994564522384E-5	0.008
18	10474244	G	C	18	10474247	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.G197C:p.R66T;	2.81602517199445E-5	0.01
18	10474244	G	T	18	10474247	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon2:c.G197T:p.R66I;	3.20862408805592E-5	0.1
18	10474245	G	A	18	10474248	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.197+1G>A)	.	.	4.68952365742707E-5	0.006
18	10474245	G	C	18	10474248	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.197+1G>C)	.	.	4.68952365742707E-5	0.008
18	10474245	G	T	18	10474248	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.197+1G>T)	.	.	4.68952365742707E-5	0.01
18	10474246	T	A	18	10474249	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.197+2T>A)	.	.	1.80274866394675E-5	0.0
18	10474246	T	C	18	10474249	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.197+2T>C)	.	.	2.41069364790736E-5	0.096
18	10474246	T	G	18	10474249	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000579685:exon2:c.197+2T>G)	.	.	2.41069364790736E-5	0.026
18	10474247	A	C	18	10474250	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.30338091304305E-5	0.0
18	10474247	A	G	18	10474250	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.30338091304305E-5	0.0
18	10474247	A	T	18	10474250	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.10250552304391E-5	0.002
18	10474248	A	C	18	10474251	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.78205327723092E-5	0.006
18	10474248	A	G	18	10474251	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.78205327723092E-5	0.006
18	10474248	A	T	18	10474251	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.82827935381688E-5	0.014
18	10474249	C	A	18	10474252	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.20862408805592E-5	0.018
18	10474249	C	G	18	10474252	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.20862408805592E-5	0.018
18	10474249	C	T	18	10474252	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.20862408805592E-5	0.022
18	10474250	G	A	18	10474253	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.87872098031522E-5	0.006
18	10474250	G	C	18	10474253	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.15849948155271E-5	0.006
18	10474250	G	T	18	10474253	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.87872098031522E-5	0.006
18	10474251	G	A	18	10474254	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.77382407657072E-5	0.002
18	10474251	G	C	18	10474254	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.49745092444763E-5	0.0
18	10474251	G	T	18	10474254	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.49745092444763E-5	0.0
18	10474252	G	A	18	10474255	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.34280463342776E-4	0.008
18	10474252	G	C	18	10474255	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.34280463342776E-4	0.004
18	10474252	G	T	18	10474255	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.34280463342776E-4	0.004
18	10475872	C	A	18	10475875	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0509402721144919	0.228
18	10475872	C	G	18	10475875	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0509402721144919	0.224
18	10475872	C	T	18	10475875	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0812618595171223	0.24
18	10475873	T	A	18	10475876	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.37608892822193E-4	0.182
18	10475873	T	C	18	10475876	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.04901073186415E-4	0.162
18	10475873	T	G	18	10475876	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.04901073186415E-4	0.162
18	10475874	T	A	18	10475877	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0160530706456106	0.226
18	10475874	T	C	18	10475877	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0163116016304491	0.198
18	10475874	T	G	18	10475877	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0163116016304491	0.198
18	10475875	G	A	18	10475878	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.952404879021985	0.872
18	10475875	G	C	18	10475878	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.952404879021985	0.85
18	10475875	G	T	18	10475878	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.952404879021985	0.848
18	10475876	G	A	18	10475879	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0661215940183244	0.204
18	10475876	G	C	18	10475879	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0305625055538626	0.1
18	10475876	G	T	18	10475879	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0364867877201535	0.154
18	10475877	C	A	18	10475880	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0364867877201535	0.158
18	10475877	C	G	18	10475880	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0305625055538626	0.094
18	10475877	C	T	18	10475880	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0661215940183244	0.172
18	10475878	C	A	18	10475881	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.46226529156369E-4	0.002
18	10475878	C	G	18	10475881	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.46226529156369E-4	0.002
18	10475878	C	T	18	10475881	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.46226529156369E-4	0.002
18	10475879	T	A	18	10475882	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.3099781559464E-4	0.0
18	10475879	T	C	18	10475882	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.12581597765867E-4	0.0
18	10475879	T	G	18	10475882	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.12581597765867E-4	0.0
18	10475880	G	A	18	10475883	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.03334260509943E-4	0.0
18	10475880	G	C	18	10475883	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	6.09218706544067E-5	0.0
18	10475880	G	T	18	10475883	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.98539574418579E-5	0.0
18	10475881	C	A	18	10475884	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	8.2076870637481E-5	0.0
18	10475881	C	G	18	10475884	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.7106675465155E-5	0.0
18	10475881	C	T	18	10475884	n	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.68632724264029E-5	0.0
18	10475882	A	C	18	10475885	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000584596:exon2:c.227-2A>C)	.	.	9.05214370486973E-5	0.002
18	10475882	A	G	18	10475885	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000584596:exon2:c.227-2A>G)	.	.	9.05214370486973E-5	0.006
18	10475882	A	T	18	10475885	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000584596:exon2:c.227-2A>T)	.	.	6.19053194304606E-5	0.0
18	10475883	G	A	18	10475886	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000584596:exon2:c.227-1G>A)	.	.	1.39178422734517E-4	0.02
18	10475883	G	C	18	10475886	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000584596:exon2:c.227-1G>C)	.	.	9.20771208607684E-5	0.018
18	10475883	G	T	18	10475886	n	y	intronic	APCDD1	.	.	splicing	ENSG00000154856(ENST00000584596:exon2:c.227-1G>T)	.	.	1.39178422734517E-4	0.068
18	10475884	T	A	18	10475887	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	unknown	UNKNOWN	5.58255349957421E-5	0.0
18	10475884	T	C	18	10475887	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	unknown	UNKNOWN	5.58255349957421E-5	0.0
18	10475884	T	G	18	10475887	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	unknown	UNKNOWN	5.58255349957421E-5	0.0
18	10475885	G	A	18	10475888	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	unknown	UNKNOWN	3.93972165730067E-5	0.0
18	10475885	G	C	18	10475888	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	unknown	UNKNOWN	3.93972165730067E-5	0.0
18	10475885	G	T	18	10475888	n	y	intronic	APCDD1	.	.	exonic	ENSG00000154856	unknown	UNKNOWN	3.93972165730067E-5	0.0
18	10485447	T	A	18	10485450	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.959385811944162	0.87
18	10485447	T	C	18	10485450	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00466744105404471	0.108
18	10485447	T	G	18	10485450	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.976417227793466	0.822
18	10485448	C	A	18	10485451	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0416000137572333	0.136
18	10485448	C	G	18	10485451	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00997745167116052	0.148
18	10485448	C	T	18	10485451	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.13305984746839E-4	0.002
18	10485449	T	A	18	10485452	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.431196427683216	0.414
18	10485449	T	C	18	10485452	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00138816481015116	0.274
18	10485449	T	G	18	10485452	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.252632319561293	0.468
18	10485450	T	A	18	10485453	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999896087183198	0.904
18	10485450	T	C	18	10485453	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.42329862749016E-5	0.01
18	10485450	T	G	18	10485453	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0806161119575335	0.438
18	10485451	G	A	18	10485454	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999237916366369	0.964
18	10485451	G	C	18	10485454	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.70433108229835E-4	0.012
18	10485451	G	T	18	10485454	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.78441610756766E-4	0.0
18	10485452	G	A	18	10485455	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0046805642831043	0.04
18	10485452	G	C	18	10485455	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.10939119808794E-4	0.01
18	10485452	G	T	18	10485455	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.14835921734311E-4	0.008
18	10485453	C	A	18	10485456	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0107814258982422	0.254
18	10485453	C	G	18	10485456	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00968823748830096	0.212
18	10485453	C	T	18	10485456	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	8.82507085644382E-5	0.064
18	10485454	T	A	18	10485457	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.920971803382354	0.686
18	10485454	T	C	18	10485457	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00100249352763219	0.162
18	10485454	T	G	18	10485457	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.97498247906163	0.662
18	10485455	T	A	18	10485458	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.05796147280937E-5	0.002
18	10485455	T	C	18	10485458	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.13827273836177E-5	0.002
18	10485455	T	G	18	10485458	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	8.30803183933769E-5	0.062
18	10485456	C	A	18	10485459	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.972675419645944	0.738
18	10485456	C	G	18	10485459	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999787817757227	0.956
18	10485456	C	T	18	10485459	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00108177712922308	0.054
18	10485457	A	C	18	10485460	y	y	splicing	APCDD1(NM_153000:exon4:c.775-2A>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.775-2A>C;ENST00000423585:exon2:c.59-2A>C;ENST00000582723:exon3:c.591-2A>C;ENST00000579685:exon3:c.198-2A>C)	.	.	0.99994568797423	0.928
18	10485457	A	G	18	10485460	y	y	splicing	APCDD1(NM_153000:exon4:c.775-2A>G)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.775-2A>G;ENST00000423585:exon2:c.59-2A>G;ENST00000582723:exon3:c.591-2A>G;ENST00000579685:exon3:c.198-2A>G)	.	.	0.99994568797423	0.928
18	10485457	A	T	18	10485460	y	y	splicing	APCDD1(NM_153000:exon4:c.775-2A>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.775-2A>T;ENST00000423585:exon2:c.59-2A>T;ENST00000582723:exon3:c.591-2A>T;ENST00000579685:exon3:c.198-2A>T)	.	.	0.99994568797423	0.924
18	10485458	G	A	18	10485461	y	y	splicing	APCDD1(NM_153000:exon4:c.775-1G>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.775-1G>A;ENST00000423585:exon2:c.59-1G>A;ENST00000582723:exon3:c.591-1G>A;ENST00000579685:exon3:c.198-1G>A)	.	.	0.99997771086178	0.948
18	10485458	G	C	18	10485461	y	y	splicing	APCDD1(NM_153000:exon4:c.775-1G>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.775-1G>C;ENST00000423585:exon2:c.59-1G>C;ENST00000582723:exon3:c.591-1G>C;ENST00000579685:exon3:c.198-1G>C)	.	.	0.99997771086178	0.946
18	10485458	G	T	18	10485461	y	y	splicing	APCDD1(NM_153000:exon4:c.775-1G>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.775-1G>T;ENST00000423585:exon2:c.59-1G>T;ENST00000582723:exon3:c.591-1G>T;ENST00000579685:exon3:c.198-1G>T)	.	.	0.99997771086178	0.948
18	10485459	A	C	18	10485462	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A775C:p.N259H;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000423585:exon2:c.A59C:p.E20A;ENSG00000154856:ENST00000579685:exon3:c.A198C:p.R66S;ENSG00000154856:ENST00000355285:exon4:c.A775C:p.N259H;	6.06352314264471E-4	0.04
18	10485459	A	G	18	10485462	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A775G:p.N259D;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000423585:exon2:c.A59G:p.E20G;ENSG00000154856:ENST00000355285:exon4:c.A775G:p.N259D;	4.71557583951702E-4	0.056
18	10485459	A	T	18	10485462	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A775T:p.N259Y;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000423585:exon2:c.A59T:p.E20V;ENSG00000154856:ENST00000579685:exon3:c.A198T:p.R66S;ENSG00000154856:ENST00000355285:exon4:c.A775T:p.N259Y;	0.0109810702704025	0.216
18	10485460	A	C	18	10485463	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A776C:p.N259T;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000423585:exon2:c.A60C:p.E20D;ENSG00000154856:ENST00000579685:exon3:c.A199C:p.T67P;ENSG00000154856:ENST00000355285:exon4:c.A776C:p.N259T;	0.81496775845766	0.746
18	10485460	A	G	18	10485463	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A776G:p.N259S;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000579685:exon3:c.A199G:p.T67A;ENSG00000154856:ENST00000355285:exon4:c.A776G:p.N259S;	0.655971660336795	0.452
18	10485460	A	T	18	10485463	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A776T:p.N259I;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000423585:exon2:c.A60T:p.E20D;ENSG00000154856:ENST00000579685:exon3:c.A199T:p.T67S;ENSG00000154856:ENST00000355285:exon4:c.A776T:p.N259I;	0.75470359893627	0.668
18	10485778	A	C	18	10485781	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A1094C:p.K365T;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon4:c.A483C:p.Q161H;ENSG00000154856:ENST00000355285:exon4:c.A1094C:p.K365T;	0.00284779324723051	0.022
18	10485778	A	G	18	10485781	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A1094G:p.K365R;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000355285:exon4:c.A1094G:p.K365R;	0.221009353720696	0.378
18	10485778	A	T	18	10485781	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A1094T:p.K365I;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon4:c.A483T:p.Q161H;ENSG00000154856:ENST00000355285:exon4:c.A1094T:p.K365I;	0.703205884464904	0.428
18	10485779	A	C	18	10485782	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A1095C:p.K365N;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon4:c.A484C:p.S162R;ENSG00000154856:ENST00000355285:exon4:c.A1095C:p.K365N;	0.976200111089831	0.85
18	10485779	A	G	18	10485782	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon4:c.A1095G:p.K365K;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon4:c.A484G:p.S162G;	0.992924382035865	0.912
18	10485779	A	T	18	10485782	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.A1095T:p.K365N;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon4:c.A484T:p.S162C;ENSG00000154856:ENST00000355285:exon4:c.A1095T:p.K365N;	0.98733483930616	0.912
18	10485780	G	A	18	10485783	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.G1096A:p.V366M;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon4:c.G485A:p.S162N;ENSG00000154856:ENST00000355285:exon4:c.G1096A:p.V366M;	0.999848763173902	0.998
18	10485780	G	C	18	10485783	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.G1096C:p.V366L;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon4:c.G485C:p.S162T;ENSG00000154856:ENST00000355285:exon4:c.G1096C:p.V366L;	0.999961201087788	0.99
18	10485780	G	T	18	10485783	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon4:c.G1096T:p.V366L;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon4:c.G485T:p.S162I;ENSG00000154856:ENST00000355285:exon4:c.G1096T:p.V366L;	0.999960144213649	0.984
18	10485781	G	A	18	10485784	y	y	splicing	APCDD1(NM_153000:exon4:c.1096+1G>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.1096+1G>A;ENST00000423585:exon2:c.380+1G>A;ENST00000578882:exon4:c.485+1G>A;ENST00000579685:exon3:c.519+1G>A)	.	.	0.999986675681007	0.932
18	10485781	G	C	18	10485784	y	y	splicing	APCDD1(NM_153000:exon4:c.1096+1G>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.1096+1G>C;ENST00000423585:exon2:c.380+1G>C;ENST00000578882:exon4:c.485+1G>C;ENST00000579685:exon3:c.519+1G>C)	.	.	0.999986675681007	0.932
18	10485781	G	T	18	10485784	y	y	splicing	APCDD1(NM_153000:exon4:c.1096+1G>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.1096+1G>T;ENST00000423585:exon2:c.380+1G>T;ENST00000578882:exon4:c.485+1G>T;ENST00000579685:exon3:c.519+1G>T)	.	.	0.999986675681007	0.932
18	10485782	T	A	18	10485785	y	y	splicing	APCDD1(NM_153000:exon4:c.1096+2T>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.1096+2T>A;ENST00000423585:exon2:c.380+2T>A;ENST00000578882:exon4:c.485+2T>A;ENST00000579685:exon3:c.519+2T>A)	.	.	0.999989917668626	0.926
18	10485782	T	C	18	10485785	y	y	splicing	APCDD1(NM_153000:exon4:c.1096+2T>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.1096+2T>C;ENST00000423585:exon2:c.380+2T>C;ENST00000578882:exon4:c.485+2T>C;ENST00000579685:exon3:c.519+2T>C)	.	.	0.986528855787127	0.604
18	10485782	T	G	18	10485785	y	y	splicing	APCDD1(NM_153000:exon4:c.1096+2T>G)	.	.	splicing	ENSG00000154856(ENST00000355285:exon4:c.1096+2T>G;ENST00000423585:exon2:c.380+2T>G;ENST00000578882:exon4:c.485+2T>G;ENST00000579685:exon3:c.519+2T>G)	.	.	0.999989917668626	0.926
18	10485783	A	C	18	10485786	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.978526559438515	0.664
18	10485783	A	G	18	10485786	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.444572710990776	0.41
18	10485783	A	T	18	10485786	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.978921048963799	0.656
18	10485784	G	A	18	10485787	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.30343792902664E-4	0.038
18	10485784	G	C	18	10485787	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.89838742349459E-5	0.01
18	10485784	G	T	18	10485787	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.02998546633367E-4	0.002
18	10485785	G	A	18	10485788	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.903626378595288	0.78
18	10485785	G	C	18	10485788	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.991727239490819	0.846
18	10485785	G	T	18	10485788	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.9999632087475	0.88
18	10485786	A	C	18	10485789	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.3564634728569E-4	0.018
18	10485786	A	G	18	10485789	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.6198269391958E-5	0.018
18	10485786	A	T	18	10485789	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	6.16371802145805E-5	0.022
18	10485787	T	A	18	10485790	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.59301401825161E-5	0.0
18	10485787	T	C	18	10485790	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.08843649286146E-5	0.0
18	10485787	T	G	18	10485790	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.59301401825161E-5	0.0
18	10485788	T	A	18	10485791	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.922766913835E-4	0.024
18	10485788	T	C	18	10485791	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.16133395469543E-4	0.014
18	10485788	T	G	18	10485791	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.95773968240316E-4	0.01
18	10487575	T	A	18	10487578	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00134808042737851	0.18
18	10487575	T	C	18	10487578	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.52446568620725E-4	0.002
18	10487575	T	G	18	10487578	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00143894053250896	0.234
18	10487576	C	A	18	10487579	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.65331647772994E-4	0.036
18	10487576	C	G	18	10487579	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.73444616435262E-5	0.004
18	10487576	C	T	18	10487579	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.98868283655284E-5	0.0
18	10487577	T	A	18	10487580	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.22614316793643E-4	0.11
18	10487577	T	C	18	10487580	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.37862428124161E-5	0.0
18	10487577	T	G	18	10487580	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00194543643005928	0.098
18	10487578	C	A	18	10487581	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.00100507003573052	0.078
18	10487578	C	G	18	10487581	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.0344133658713E-4	0.012
18	10487578	C	T	18	10487581	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	4.89618007387709E-5	0.002
18	10487579	C	A	18	10487582	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.67564005816755E-4	0.056
18	10487579	C	G	18	10487582	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.85830049439952E-4	0.012
18	10487579	C	T	18	10487582	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.59341296071197E-5	0.0
18	10487580	T	A	18	10487583	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.43624395100007E-4	0.044
18	10487580	T	C	18	10487583	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	8.81424717989637E-5	0.0
18	10487580	T	G	18	10487583	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.20472775944286E-4	0.034
18	10487581	T	A	18	10487584	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	7.59489981109049E-4	0.046
18	10487581	T	C	18	10487584	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	1.32493114563177E-5	0.002
18	10487581	T	G	18	10487584	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.62733002126891E-4	0.046
18	10487582	T	A	18	10487585	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.972240231852629	0.762
18	10487582	T	C	18	10487585	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.84038798668776E-5	0.004
18	10487582	T	G	18	10487585	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	9.48335593891009E-4	0.052
18	10487583	G	A	18	10487586	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	5.40929819067497E-5	0.012
18	10487583	G	C	18	10487586	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	3.35945668330193E-5	0.008
18	10487583	G	T	18	10487586	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	2.5732183902016E-5	0.002
18	10487584	C	A	18	10487587	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.945263447469463	0.658
18	10487584	C	G	18	10487587	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.999512514441093	0.922
18	10487584	C	T	18	10487587	y	y	intronic	APCDD1	.	.	intronic	ENSG00000154856	.	.	0.0561040467517607	0.22
18	10487585	A	C	18	10487588	y	y	splicing	APCDD1(NM_153000:exon5:c.1097-2A>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon5:c.1097-2A>C;ENST00000423585:exon3:c.381-2A>C;ENST00000578882:exon5:c.486-2A>C;ENST00000579685:exon4:c.520-2A>C)	.	.	0.999988247793601	0.924
18	10487585	A	G	18	10487588	y	y	splicing	APCDD1(NM_153000:exon5:c.1097-2A>G)	.	.	splicing	ENSG00000154856(ENST00000355285:exon5:c.1097-2A>G;ENST00000423585:exon3:c.381-2A>G;ENST00000578882:exon5:c.486-2A>G;ENST00000579685:exon4:c.520-2A>G)	.	.	0.999988247793601	0.924
18	10487585	A	T	18	10487588	y	y	splicing	APCDD1(NM_153000:exon5:c.1097-2A>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon5:c.1097-2A>T;ENST00000423585:exon3:c.381-2A>T;ENST00000578882:exon5:c.486-2A>T;ENST00000579685:exon4:c.520-2A>T)	.	.	0.999988247793601	0.924
18	10487586	G	A	18	10487589	y	y	splicing	APCDD1(NM_153000:exon5:c.1097-1G>A)	.	.	splicing	ENSG00000154856(ENST00000355285:exon5:c.1097-1G>A;ENST00000423585:exon3:c.381-1G>A;ENST00000578882:exon5:c.486-1G>A;ENST00000579685:exon4:c.520-1G>A)	.	.	0.999986675681007	0.932
18	10487586	G	C	18	10487589	y	y	splicing	APCDD1(NM_153000:exon5:c.1097-1G>C)	.	.	splicing	ENSG00000154856(ENST00000355285:exon5:c.1097-1G>C;ENST00000423585:exon3:c.381-1G>C;ENST00000578882:exon5:c.486-1G>C;ENST00000579685:exon4:c.520-1G>C)	.	.	0.999986675681007	0.932
18	10487586	G	T	18	10487589	y	y	splicing	APCDD1(NM_153000:exon5:c.1097-1G>T)	.	.	splicing	ENSG00000154856(ENST00000355285:exon5:c.1097-1G>T;ENST00000423585:exon3:c.381-1G>T;ENST00000578882:exon5:c.486-1G>T;ENST00000579685:exon4:c.520-1G>T)	.	.	0.999986675681007	0.932
18	10487587	T	A	18	10487590	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon5:c.T1097A:p.V366E;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon5:c.T486A:p.S162R;ENSG00000154856:ENST00000355285:exon5:c.T1097A:p.V366E;	0.0109564965051965	0.144
18	10487587	T	C	18	10487590	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon5:c.T1097C:p.V366A;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000355285:exon5:c.T1097C:p.V366A;	0.758006901730582	0.498
18	10487587	T	G	18	10487590	y	y	exonic	APCDD1	nonsynonymous SNV	APCDD1:NM_153000:exon5:c.T1097G:p.V366G;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon5:c.T486G:p.S162R;ENSG00000154856:ENST00000355285:exon5:c.T1097G:p.V366G;	0.00762088659705828	0.096
18	10487588	G	A	18	10487591	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon5:c.G1098A:p.V366V;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon5:c.G487A:p.E163K;	0.0145976472545188	0.11
18	10487588	G	C	18	10487591	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon5:c.G1098C:p.V366V;	exonic	ENSG00000154856	nonsynonymous SNV	ENSG00000154856:ENST00000578882:exon5:c.G487C:p.E163Q;	0.00474391887386764	0.06
18	10487588	G	T	18	10487591	y	y	exonic	APCDD1	synonymous SNV	APCDD1:NM_153000:exon5:c.G1098T:p.V366V;	exonic	ENSG00000154856	stopgain SNV	ENSG00000154856:ENST00000578882:exon5:c.G487T:p.E163X;	0.971213570928353	0.786
18	10526153	A	C	18	10526156	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon1:c.A54C:p.K18N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000580483:exon1:c.A54C:p.K18N;ENSG00000134265:ENST00000580224:exon1:c.A54C:p.K18N;ENSG00000134265:ENST00000322897:exon1:c.A54C:p.K18N;	1.45710091934586E-5	0.038
18	10526153	A	G	18	10526156	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon1:c.A54G:p.K18K;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000580483:exon1:c.A54G:p.K18K;ENSG00000134265:ENST00000580224:exon1:c.A54G:p.K18K;ENSG00000134265:ENST00000322897:exon1:c.A54G:p.K18K;	1.67115828599143E-4	0.214
18	10526153	A	T	18	10526156	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon1:c.A54T:p.K18N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000580483:exon1:c.A54T:p.K18N;ENSG00000134265:ENST00000580224:exon1:c.A54T:p.K18N;ENSG00000134265:ENST00000322897:exon1:c.A54T:p.K18N;	0.0482428676374722	0.396
18	10526154	T	A	18	10526157	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon1:c.T55A:p.Y19N;	exonic	ENSG00000134265	stoploss SNV	ENSG00000134265:ENST00000580483:exon1:c.T55A:p.X19K;	0.210616885488809	0.4
18	10526154	T	C	18	10526157	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon1:c.T55C:p.Y19H;	exonic	ENSG00000134265	stoploss SNV	ENSG00000134265:ENST00000580483:exon1:c.T55C:p.X19Q;	0.442229737689192	0.684
18	10526154	T	G	18	10526157	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon1:c.T55G:p.Y19D;	exonic	ENSG00000134265	stoploss SNV	ENSG00000134265:ENST00000580483:exon1:c.T55G:p.X19E;	0.398121493825952	0.676
18	10526155	A	C	18	10526158	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon1:c.A56C:p.Y19S;	exonic	ENSG00000134265	stoploss SNV	ENSG00000134265:ENST00000580483:exon1:c.A56C:p.X19S;	0.0220900002474301	0.292
18	10526155	A	G	18	10526158	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon1:c.A56G:p.Y19C;	exonic	ENSG00000134265	stoploss SNV	ENSG00000134265:ENST00000580483:exon1:c.A56G:p.X19W;	0.00529385939544472	0.098
18	10526155	A	T	18	10526158	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon1:c.A56T:p.Y19F;	exonic	ENSG00000134265	stoploss SNV	ENSG00000134265:ENST00000580483:exon1:c.A56T:p.X19L;	0.0666948438230684	0.376
18	10526156	G	A	18	10526159	y	y	splicing	NAPG(NM_003826:exon1:c.56+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon1:c.56+1G>A;ENST00000580224:exon1:c.56+1G>A;ENST00000322897:exon1:c.56+1G>A)	.	.	0.999986675681007	0.934
18	10526156	G	C	18	10526159	y	y	splicing	NAPG(NM_003826:exon1:c.56+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon1:c.56+1G>C;ENST00000580224:exon1:c.56+1G>C;ENST00000322897:exon1:c.56+1G>C)	.	.	0.999986675681007	0.934
18	10526156	G	T	18	10526159	y	y	splicing	NAPG(NM_003826:exon1:c.56+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon1:c.56+1G>T;ENST00000580224:exon1:c.56+1G>T;ENST00000322897:exon1:c.56+1G>T)	.	.	0.999986675681007	0.934
18	10526157	T	A	18	10526160	y	y	splicing	NAPG(NM_003826:exon1:c.56+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon1:c.56+2T>A;ENST00000580224:exon1:c.56+2T>A;ENST00000322897:exon1:c.56+2T>A)	.	.	0.999989917668626	0.928
18	10526157	T	C	18	10526160	y	y	splicing	NAPG(NM_003826:exon1:c.56+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon1:c.56+2T>C;ENST00000580224:exon1:c.56+2T>C;ENST00000322897:exon1:c.56+2T>C)	.	.	0.999951695480788	0.866
18	10526157	T	G	18	10526160	y	y	splicing	NAPG(NM_003826:exon1:c.56+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon1:c.56+2T>G;ENST00000580224:exon1:c.56+2T>G;ENST00000322897:exon1:c.56+2T>G)	.	.	0.999989917668626	0.928
18	10526158	G	A	18	10526161	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.77369680158401E-4	0.068
18	10526158	G	C	18	10526161	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.995751017958958	0.73
18	10526158	G	T	18	10526161	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.95983366835263	0.7
18	10526159	A	C	18	10526162	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.998022472455423	0.832
18	10526159	A	G	18	10526162	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999898355646659	0.936
18	10526159	A	T	18	10526162	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999948254133959	0.908
18	10526160	G	A	18	10526163	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999979614670434	0.998
18	10526160	G	C	18	10526163	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999980736686608	0.982
18	10526160	G	T	18	10526163	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999980736686608	0.976
18	10526161	T	A	18	10526164	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.985883376325955	0.736
18	10526161	T	C	18	10526164	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.949910379760514	0.808
18	10526161	T	G	18	10526164	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.987466859653548	0.768
18	10526162	G	A	18	10526165	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.43139094898357E-4	0.006
18	10526162	G	C	18	10526165	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.34940260967427E-4	0.0
18	10526162	G	T	18	10526165	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.05082540952232E-4	0.012
18	10526163	A	C	18	10526166	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.15392528342733E-4	0.0
18	10526163	A	G	18	10526166	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.20828349192267E-4	0.006
18	10526163	A	T	18	10526166	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.79660987164505E-4	0.004
18	10526760	A	C	18	10526763	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.A189C:p.V63V;	1.37184549953077E-4	0.0
18	10526760	A	G	18	10526763	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.A189G:p.V63V;	1.37184549953077E-4	0.0
18	10526760	A	T	18	10526763	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.A189T:p.V63V;	1.37184549953077E-4	0.004
18	10526761	C	A	18	10526764	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.C190A:p.H64N;	1.17564447662592E-4	0.0
18	10526761	C	G	18	10526764	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.C190G:p.H64D;	1.06520082605731E-4	0.0
18	10526761	C	T	18	10526764	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.C190T:p.H64Y;	1.17564447662592E-4	0.0
18	10526762	A	C	18	10526765	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.A191C:p.H64P;	5.44385453626159E-5	0.0
18	10526762	A	G	18	10526765	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.A191G:p.H64R;	5.44385453626159E-5	0.002
18	10526762	A	T	18	10526765	n	y	intronic	NAPG	.	.	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000582472:exon1:c.A191T:p.H64L;	6.00832436904377E-5	0.0
18	10526763	G	A	18	10526766	n	y	intronic	NAPG	.	.	splicing	ENSG00000134265(ENST00000582472:exon1:c.191+1G>A)	.	.	0.00235656604380004	0.01
18	10526763	G	C	18	10526766	n	y	intronic	NAPG	.	.	splicing	ENSG00000134265(ENST00000582472:exon1:c.191+1G>C)	.	.	0.00198841776671315	0.006
18	10526763	G	T	18	10526766	n	y	intronic	NAPG	.	.	splicing	ENSG00000134265(ENST00000582472:exon1:c.191+1G>T)	.	.	0.00200987149703971	0.014
18	10526764	T	A	18	10526767	n	y	intronic	NAPG	.	.	splicing	ENSG00000134265(ENST00000582472:exon1:c.191+2T>A)	.	.	4.33019643212499E-5	0.002
18	10526764	T	C	18	10526767	n	y	intronic	NAPG	.	.	splicing	ENSG00000134265(ENST00000582472:exon1:c.191+2T>C)	.	.	7.87029440284394E-5	0.002
18	10526764	T	G	18	10526767	n	y	intronic	NAPG	.	.	splicing	ENSG00000134265(ENST00000582472:exon1:c.191+2T>G)	.	.	7.87029440284394E-5	0.002
18	10526765	A	C	18	10526768	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.92772598195944E-5	0.002
18	10526765	A	G	18	10526768	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.92772598195944E-5	0.002
18	10526765	A	T	18	10526768	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.92772598195944E-5	0.002
18	10526766	C	A	18	10526769	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.15941453541388E-5	0.002
18	10526766	C	G	18	10526769	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.15941453541388E-5	0.002
18	10526766	C	T	18	10526769	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.15941453541388E-5	0.002
18	10526767	G	A	18	10526770	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.44385453626159E-5	0.002
18	10526767	G	C	18	10526770	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.25721173904076E-5	0.0
18	10526767	G	T	18	10526770	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.44385453626159E-5	0.002
18	10526768	T	A	18	10526771	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.84631977257237E-5	0.002
18	10526768	T	C	18	10526771	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.84631977257237E-5	0.012
18	10526768	T	G	18	10526771	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.84631977257237E-5	0.012
18	10526769	A	C	18	10526772	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.50378308532496E-5	0.002
18	10526769	A	G	18	10526772	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.50378308532496E-5	0.002
18	10526769	A	T	18	10526772	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.92772598195944E-5	0.002
18	10526770	G	A	18	10526773	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.45170072801036E-5	0.014
18	10526770	G	C	18	10526773	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.3994564522384E-5	0.014
18	10526770	G	T	18	10526773	n	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.3994564522384E-5	0.014
18	10530755	T	A	18	10530758	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.04393264438873E-4	0.112
18	10530755	T	C	18	10530758	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.26861399182223E-5	0.036
18	10530755	T	G	18	10530758	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.45481473537875E-4	0.096
18	10530756	T	A	18	10530759	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.100576363025241	0.438
18	10530756	T	C	18	10530759	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0136801880791088	0.124
18	10530756	T	G	18	10530759	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.101973579410475	0.372
18	10530757	T	A	18	10530760	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.011005784417317	0.154
18	10530757	T	C	18	10530760	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.05251961172151E-4	0.028
18	10530757	T	G	18	10530760	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0174662545228823	0.166
18	10530758	T	A	18	10530761	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.054446620233853	0.19
18	10530758	T	C	18	10530761	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00392485120724673	0.122
18	10530758	T	G	18	10530761	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0118577807379255	0.152
18	10530759	C	A	18	10530762	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.76345594900301E-4	0.036
18	10530759	C	G	18	10530762	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00130190717594403	0.03
18	10530759	C	T	18	10530762	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.1358049850036E-5	0.0
18	10530760	A	C	18	10530763	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.59589638252678E-4	0.008
18	10530760	A	G	18	10530763	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.85811509609266E-5	0.002
18	10530760	A	T	18	10530763	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.15316750817086E-4	0.0
18	10530761	T	A	18	10530764	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00329889680046997	0.086
18	10530761	T	C	18	10530764	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.15011734929664E-4	0.006
18	10530761	T	G	18	10530764	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999576624376443	0.944
18	10530762	T	A	18	10530765	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0200844835841726	0.222
18	10530762	T	C	18	10530765	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00365881342176788	0.112
18	10530762	T	G	18	10530765	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0202951739074355	0.224
18	10530763	C	A	18	10530766	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.40143792167064E-4	0.004
18	10530763	C	G	18	10530766	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.13993266876875E-4	0.016
18	10530763	C	T	18	10530766	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.87999586851412E-5	0.002
18	10530764	T	A	18	10530767	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0460187019856537	0.29
18	10530764	T	C	18	10530767	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.33243083610332E-4	0.014
18	10530764	T	G	18	10530767	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.251007587598274	0.524
18	10530765	A	C	18	10530768	y	y	splicing	NAPG(NM_003826:exon2:c.57-2A>C)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.57-2A>C;ENST00000582472:exon2:c.192-2A>C)	.	.	0.999988247793601	0.93
18	10530765	A	G	18	10530768	y	y	splicing	NAPG(NM_003826:exon2:c.57-2A>G)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.57-2A>G;ENST00000582472:exon2:c.192-2A>G)	.	.	0.999988247793601	0.93
18	10530765	A	T	18	10530768	y	y	splicing	NAPG(NM_003826:exon2:c.57-2A>T)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.57-2A>T;ENST00000582472:exon2:c.192-2A>T)	.	.	0.999988247793601	0.93
18	10530766	G	A	18	10530769	y	y	splicing	NAPG(NM_003826:exon2:c.57-1G>A)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.57-1G>A;ENST00000582472:exon2:c.192-1G>A)	.	.	0.999990361384395	0.938
18	10530766	G	C	18	10530769	y	y	splicing	NAPG(NM_003826:exon2:c.57-1G>C)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.57-1G>C;ENST00000582472:exon2:c.192-1G>C)	.	.	0.999990361384395	0.938
18	10530766	G	T	18	10530769	y	y	splicing	NAPG(NM_003826:exon2:c.57-1G>T)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.57-1G>T;ENST00000582472:exon2:c.192-1G>T)	.	.	0.999990361384395	0.938
18	10530767	C	A	18	10530770	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon2:c.C57A:p.Y19X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000322897:exon2:c.C57A:p.Y19X;	0.6371423955348	0.652
18	10530767	C	G	18	10530770	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon2:c.C57G:p.Y19X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000322897:exon2:c.C57G:p.Y19X;	0.594753524664184	0.6
18	10530767	C	T	18	10530770	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon2:c.C57T:p.Y19Y;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.C57T:p.Y19Y;ENSG00000134265:ENST00000582472:exon2:c.C192T:p.H64H;	0.0595515152893124	0.31
18	10530768	C	A	18	10530771	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon2:c.C58A:p.L20M;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.C58A:p.L20M;ENSG00000134265:ENST00000582472:exon2:c.C193A:p.L65M;	3.82139956273676E-4	0.004
18	10530768	C	G	18	10530771	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon2:c.C58G:p.L20V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.C58G:p.L20V;ENSG00000134265:ENST00000582472:exon2:c.C193G:p.L65V;	3.21724586259465E-4	0.012
18	10530768	C	T	18	10530771	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon2:c.C58T:p.L20L;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.C58T:p.L20L;ENSG00000134265:ENST00000582472:exon2:c.C193T:p.L65L;	5.22144461457547E-4	0.008
18	10530832	C	A	18	10530835	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon2:c.C122A:p.A41E;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.C122A:p.A41E;ENSG00000134265:ENST00000582472:exon2:c.C257A:p.A86E;	0.955059239201809	0.69
18	10530832	C	G	18	10530835	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon2:c.C122G:p.A41G;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.C122G:p.A41G;ENSG00000134265:ENST00000582472:exon2:c.C257G:p.A86G;	0.913090999534912	0.622
18	10530832	C	T	18	10530835	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon2:c.C122T:p.A41V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.C122T:p.A41V;ENSG00000134265:ENST00000582472:exon2:c.C257T:p.A86V;	0.999853946253012	0.976
18	10530833	A	C	18	10530836	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon2:c.A123C:p.A41A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.A123C:p.A41A;ENSG00000134265:ENST00000582472:exon2:c.A258C:p.A86A;	0.999719573414671	0.994
18	10530833	A	G	18	10530836	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon2:c.A123G:p.A41A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.A123G:p.A41A;ENSG00000134265:ENST00000582472:exon2:c.A258G:p.A86A;	0.999712773149805	1.0
18	10530833	A	T	18	10530836	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon2:c.A123T:p.A41A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.A123T:p.A41A;ENSG00000134265:ENST00000582472:exon2:c.A258T:p.A86A;	0.999892725009813	0.988
18	10530834	G	A	18	10530837	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon2:c.G124A:p.A42T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.G124A:p.A42T;ENSG00000134265:ENST00000582472:exon2:c.G259A:p.A87T;	0.999987548709941	1.0
18	10530834	G	C	18	10530837	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon2:c.G124C:p.A42P;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.G124C:p.A42P;ENSG00000134265:ENST00000582472:exon2:c.G259C:p.A87P;	0.999992175150509	1.0
18	10530834	G	T	18	10530837	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon2:c.G124T:p.A42S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon2:c.G124T:p.A42S;ENSG00000134265:ENST00000582472:exon2:c.G259T:p.A87S;	0.9999560241651	0.99
18	10530835	G	A	18	10530838	y	y	splicing	NAPG(NM_003826:exon2:c.124+1G>A)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.124+1G>A;ENST00000582472:exon2:c.259+1G>A)	.	.	0.999990361384395	0.938
18	10530835	G	C	18	10530838	y	y	splicing	NAPG(NM_003826:exon2:c.124+1G>C)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.124+1G>C;ENST00000582472:exon2:c.259+1G>C)	.	.	0.999990361384395	0.938
18	10530835	G	T	18	10530838	y	y	splicing	NAPG(NM_003826:exon2:c.124+1G>T)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.124+1G>T;ENST00000582472:exon2:c.259+1G>T)	.	.	0.999990361384395	0.938
18	10530836	T	A	18	10530839	y	y	splicing	NAPG(NM_003826:exon2:c.124+2T>A)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.124+2T>A;ENST00000582472:exon2:c.259+2T>A)	.	.	0.999988247793601	0.93
18	10530836	T	C	18	10530839	y	y	splicing	NAPG(NM_003826:exon2:c.124+2T>C)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.124+2T>C;ENST00000582472:exon2:c.259+2T>C)	.	.	0.995320650369382	0.694
18	10530836	T	G	18	10530839	y	y	splicing	NAPG(NM_003826:exon2:c.124+2T>G)	.	.	splicing	ENSG00000134265(ENST00000322897:exon2:c.124+2T>G;ENST00000582472:exon2:c.259+2T>G)	.	.	0.999988247793601	0.93
18	10530837	A	C	18	10530840	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999949509935125	0.952
18	10530837	A	G	18	10530840	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999547821236066	0.938
18	10530837	A	T	18	10530840	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999675320136168	0.948
18	10530838	T	A	18	10530841	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.78424151258856E-5	0.032
18	10530838	T	C	18	10530841	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.27611113387686E-4	0.044
18	10530838	T	G	18	10530841	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.8327969355278E-4	0.026
18	10530839	T	A	18	10530842	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.97809243886816E-4	0.014
18	10530839	T	C	18	10530842	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.29442420954085E-4	0.004
18	10530839	T	G	18	10530842	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.13703826062243E-4	0.02
18	10530840	T	A	18	10530843	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0481860882699369	0.27
18	10530840	T	C	18	10530843	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0668920985713016	0.382
18	10530840	T	G	18	10530843	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00290130143026823	0.324
18	10530841	T	A	18	10530844	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.62497249406995E-4	0.01
18	10530841	T	C	18	10530844	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.37601561185209E-4	0.012
18	10530841	T	G	18	10530844	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.64572670689025E-4	0.014
18	10530842	T	A	18	10530845	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00399912053438111	0.024
18	10530842	T	C	18	10530845	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00155088933620638	0.026
18	10530842	T	G	18	10530845	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00294812093570622	0.128
18	10532696	T	A	18	10532699	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.42538327114676E-5	0.068
18	10532696	T	C	18	10532699	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.61072894324812E-5	0.024
18	10532696	T	G	18	10532699	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.40391638899647E-5	0.054
18	10532697	T	A	18	10532700	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	8.64361074465467E-4	0.206
18	10532697	T	C	18	10532700	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.47613234482354E-4	0.068
18	10532697	T	G	18	10532700	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.06081675587928E-4	0.164
18	10532698	T	A	18	10532701	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.21457275390829E-4	0.212
18	10532698	T	C	18	10532701	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.38128789706587E-4	0.072
18	10532698	T	G	18	10532701	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00220634773105194	0.272
18	10532699	C	A	18	10532702	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.56392128961299E-4	0.078
18	10532699	C	G	18	10532702	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.28569994331587E-4	0.076
18	10532699	C	T	18	10532702	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.75272926722058E-4	0.232
18	10532700	T	A	18	10532703	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00174546528129222	0.042
18	10532700	T	C	18	10532703	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.18885814305327E-4	0.006
18	10532700	T	G	18	10532703	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.72860347364082E-4	0.03
18	10532701	A	C	18	10532704	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.11608533193551E-5	0.076
18	10532701	A	G	18	10532704	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.54871901696212E-5	0.048
18	10532701	A	T	18	10532704	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.42660970662631E-5	0.078
18	10532702	T	A	18	10532705	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.261008645169253	0.478
18	10532702	T	C	18	10532705	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0519481978434755	0.382
18	10532702	T	G	18	10532705	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999346653813819	0.914
18	10532703	T	A	18	10532706	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.90036087463471	0.642
18	10532703	T	C	18	10532706	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.79858929703808	0.57
18	10532703	T	G	18	10532706	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.89059536251227	0.662
18	10532704	T	A	18	10532707	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.243196607191633	0.326
18	10532704	T	C	18	10532707	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0286546678376022	0.176
18	10532704	T	G	18	10532707	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0923933099793353	0.224
18	10532705	C	A	18	10532708	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999740911046793	0.902
18	10532705	C	G	18	10532708	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999901940202375	0.968
18	10532705	C	T	18	10532708	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.986072107534002	0.388
18	10532706	A	C	18	10532709	y	y	splicing	NAPG(NM_003826:exon3:c.125-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.57-2A>C;ENST00000322897:exon3:c.125-2A>C;ENST00000582472:exon3:c.260-2A>C)	.	.	0.999988247793601	0.932
18	10532706	A	G	18	10532709	y	y	splicing	NAPG(NM_003826:exon3:c.125-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.57-2A>G;ENST00000322897:exon3:c.125-2A>G;ENST00000582472:exon3:c.260-2A>G)	.	.	0.999988247793601	0.932
18	10532706	A	T	18	10532709	y	y	splicing	NAPG(NM_003826:exon3:c.125-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.57-2A>T;ENST00000322897:exon3:c.125-2A>T;ENST00000582472:exon3:c.260-2A>T)	.	.	0.999988247793601	0.932
18	10532707	G	A	18	10532710	y	y	splicing	NAPG(NM_003826:exon3:c.125-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.57-1G>A;ENST00000322897:exon3:c.125-1G>A;ENST00000582472:exon3:c.260-1G>A)	.	.	0.999990361384395	0.938
18	10532707	G	C	18	10532710	y	y	splicing	NAPG(NM_003826:exon3:c.125-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.57-1G>C;ENST00000322897:exon3:c.125-1G>C;ENST00000582472:exon3:c.260-1G>C)	.	.	0.999990361384395	0.938
18	10532707	G	T	18	10532710	y	y	splicing	NAPG(NM_003826:exon3:c.125-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.57-1G>T;ENST00000322897:exon3:c.125-1G>T;ENST00000582472:exon3:c.260-1G>T)	.	.	0.999990361384395	0.938
18	10532708	C	A	18	10532711	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.C125A:p.A42D;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000580224:exon2:c.C57A:p.Y19X;	0.979677107403799	0.852
18	10532708	C	G	18	10532711	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.C125G:p.A42G;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000580224:exon2:c.C57G:p.Y19X;	0.978380249305597	0.78
18	10532708	C	T	18	10532711	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.C125T:p.A42V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.C125T:p.A42V;ENSG00000134265:ENST00000582472:exon3:c.C260T:p.A87V;	0.989370224897151	0.776
18	10532709	T	A	18	10532712	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon3:c.T126A:p.A42A;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000580224:exon2:c.T58A:p.C20S;	0.0127945645820528	0.178
18	10532709	T	C	18	10532712	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon3:c.T126C:p.A42A;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000580224:exon2:c.T58C:p.C20R;	0.00678931553524774	0.148
18	10532709	T	G	18	10532712	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon3:c.T126G:p.A42A;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000580224:exon2:c.T58G:p.C20G;	0.00321422713452579	0.044
18	10532790	G	A	18	10532793	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon3:c.G207A:p.R69R;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.G207A:p.R69R;ENSG00000134265:ENST00000582472:exon3:c.G342A:p.R114R;	0.470882236699501	.
18	10532790	G	C	18	10532793	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.G207C:p.R69S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.G207C:p.R69S;ENSG00000134265:ENST00000582472:exon3:c.G342C:p.R114S;	0.00968476279182397	.
18	10532790	G	T	18	10532793	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.G207T:p.R69S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.G207T:p.R69S;ENSG00000134265:ENST00000582472:exon3:c.G342T:p.R114S;	0.199442490422621	.
18	10532791	G	A	18	10532794	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.G208A:p.A70T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.G208A:p.A70T;ENSG00000134265:ENST00000582472:exon3:c.G343A:p.A115T;	0.511074790911449	.
18	10532791	G	C	18	10532794	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.G208C:p.A70P;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.G208C:p.A70P;ENSG00000134265:ENST00000582472:exon3:c.G343C:p.A115P;	0.674739236353198	.
18	10532791	G	T	18	10532794	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.G208T:p.A70S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.G208T:p.A70S;ENSG00000134265:ENST00000582472:exon3:c.G343T:p.A115S;	0.637074799639236	.
18	10532792	C	A	18	10532795	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.C209A:p.A70D;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.C209A:p.A70D;ENSG00000134265:ENST00000582472:exon3:c.C344A:p.A115D;	0.94266370420364	.
18	10532792	C	G	18	10532795	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.C209G:p.A70G;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.C209G:p.A70G;ENSG00000134265:ENST00000582472:exon3:c.C344G:p.A115G;	0.905581856247919	.
18	10532792	C	T	18	10532795	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon3:c.C209T:p.A70V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon3:c.C209T:p.A70V;ENSG00000134265:ENST00000582472:exon3:c.C344T:p.A115V;	0.965780913886157	.
18	10532793	G	A	18	10532796	y	y	splicing	NAPG(NM_003826:exon3:c.209+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.141+1G>A;ENST00000322897:exon3:c.209+1G>A;ENST00000582472:exon3:c.344+1G>A)	.	.	0.999980697831002	.
18	10532793	G	C	18	10532796	y	y	splicing	NAPG(NM_003826:exon3:c.209+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.141+1G>C;ENST00000322897:exon3:c.209+1G>C;ENST00000582472:exon3:c.344+1G>C)	.	.	0.999980697831002	.
18	10532793	G	T	18	10532796	y	y	splicing	NAPG(NM_003826:exon3:c.209+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.141+1G>T;ENST00000322897:exon3:c.209+1G>T;ENST00000582472:exon3:c.344+1G>T)	.	.	0.999980697831002	.
18	10532794	T	A	18	10532797	y	y	splicing	NAPG(NM_003826:exon3:c.209+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.141+2T>A;ENST00000322897:exon3:c.209+2T>A;ENST00000582472:exon3:c.344+2T>A)	.	.	0.999914511980801	.
18	10532794	T	C	18	10532797	y	y	splicing	NAPG(NM_003826:exon3:c.209+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.141+2T>C;ENST00000322897:exon3:c.209+2T>C;ENST00000582472:exon3:c.344+2T>C)	.	.	0.955396868881262	.
18	10532794	T	G	18	10532797	y	y	splicing	NAPG(NM_003826:exon3:c.209+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580224:exon2:c.141+2T>G;ENST00000322897:exon3:c.209+2T>G;ENST00000582472:exon3:c.344+2T>G)	.	.	0.999914511980801	.
18	10532795	A	C	18	10532798	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999944549021417	.
18	10532795	A	G	18	10532798	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.998774889829214	.
18	10532795	A	T	18	10532798	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.99995747348201	.
18	10532796	T	A	18	10532799	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.530238190355554	.
18	10532796	T	C	18	10532799	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.984265125416243	.
18	10532796	T	G	18	10532799	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.892517792475949	.
18	10532797	C	A	18	10532800	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.962901129051598	.
18	10532797	C	G	18	10532800	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.687400816801719	.
18	10532797	C	T	18	10532800	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.953901586507143	.
18	10532798	T	A	18	10532801	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0345667020780386	.
18	10532798	T	C	18	10532801	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.049538863189823	.
18	10532798	T	G	18	10532801	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0201575099106979	.
18	10532799	T	A	18	10532802	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.37981217505786	.
18	10532799	T	C	18	10532802	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.485334506881771	.
18	10532799	T	G	18	10532802	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.485334506881771	.
18	10532800	T	A	18	10532803	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.443026558265681	.
18	10532800	T	C	18	10532803	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.30720975444437	.
18	10532800	T	G	18	10532803	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.560999366115641	.
18	10533521	A	C	18	10533524	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.68050141685091E-5	0.012
18	10533521	A	G	18	10533524	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.11478687281974E-5	0.006
18	10533521	A	T	18	10533524	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.87998016647132E-5	0.002
18	10533522	C	A	18	10533525	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0044976146516741	0.098
18	10533522	C	G	18	10533525	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999915408560093	0.982
18	10533522	C	T	18	10533525	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.29637770947301E-4	0.024
18	10533523	T	A	18	10533526	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0363639928938958	0.256
18	10533523	T	C	18	10533526	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.23264500826213E-4	0.028
18	10533523	T	G	18	10533526	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00256678734892412	0.17
18	10533524	T	A	18	10533527	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.982069136545947	0.728
18	10533524	T	C	18	10533527	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00211441361491822	0.08
18	10533524	T	G	18	10533527	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.890475202415697	0.584
18	10533525	C	A	18	10533528	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00462943945869872	0.098
18	10533525	C	G	18	10533528	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00575070224519574	0.074
18	10533525	C	T	18	10533528	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.3989669272099E-4	0.082
18	10533526	C	A	18	10533529	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00318494391275756	0.098
18	10533526	C	G	18	10533529	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00234752455097084	0.126
18	10533526	C	T	18	10533529	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	8.96903378221545E-5	0.02
18	10533527	A	C	18	10533530	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.94308270569377E-4	0.006
18	10533527	A	G	18	10533530	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.47020305814663E-4	0.03
18	10533527	A	T	18	10533530	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.390192533567E-4	0.044
18	10533528	T	A	18	10533531	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.630491002515315	0.666
18	10533528	T	C	18	10533531	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0273715788325239	0.24
18	10533528	T	G	18	10533531	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999910398937995	0.954
18	10533529	T	A	18	10533532	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.90127744390533E-4	0.01
18	10533529	T	C	18	10533532	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.42336700047776E-4	0.022
18	10533529	T	G	18	10533532	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.98286270363312E-4	0.082
18	10533530	C	A	18	10533533	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999901416972738	0.958
18	10533530	C	G	18	10533533	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999968561702751	0.968
18	10533530	C	T	18	10533533	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.969874947228923	0.456
18	10533531	A	C	18	10533534	y	y	splicing	NAPG(NM_003826:exon4:c.210-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.142-2A>C;ENST00000322897:exon4:c.210-2A>C;ENST00000582472:exon4:c.345-2A>C)	.	.	0.999986741007567	0.944
18	10533531	A	G	18	10533534	y	y	splicing	NAPG(NM_003826:exon4:c.210-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.142-2A>G;ENST00000322897:exon4:c.210-2A>G;ENST00000582472:exon4:c.345-2A>G)	.	.	0.999986741007567	0.944
18	10533531	A	T	18	10533534	y	y	splicing	NAPG(NM_003826:exon4:c.210-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.142-2A>T;ENST00000322897:exon4:c.210-2A>T;ENST00000582472:exon4:c.345-2A>T)	.	.	0.999986741007567	0.944
18	10533532	G	A	18	10533535	y	y	splicing	NAPG(NM_003826:exon4:c.210-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.142-1G>A;ENST00000322897:exon4:c.210-1G>A;ENST00000582472:exon4:c.345-1G>A)	.	.	0.999987670894945	0.94
18	10533532	G	C	18	10533535	y	y	splicing	NAPG(NM_003826:exon4:c.210-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.142-1G>C;ENST00000322897:exon4:c.210-1G>C;ENST00000582472:exon4:c.345-1G>C)	.	.	0.999987670894945	0.94
18	10533532	G	T	18	10533535	y	y	splicing	NAPG(NM_003826:exon4:c.210-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.142-1G>T;ENST00000322897:exon4:c.210-1G>T;ENST00000582472:exon4:c.345-1G>T)	.	.	0.999987670894945	0.94
18	10533533	T	A	18	10533536	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon4:c.T210A:p.A70A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.T210A:p.A70A;ENSG00000134265:ENST00000582472:exon4:c.T345A:p.A115A;	8.63088230483877E-5	0.012
18	10533533	T	C	18	10533536	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon4:c.T210C:p.A70A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.T210C:p.A70A;ENSG00000134265:ENST00000582472:exon4:c.T345C:p.A115A;	1.27015239216681E-4	0.034
18	10533533	T	G	18	10533536	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon4:c.T210G:p.A70A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.T210G:p.A70A;ENSG00000134265:ENST00000582472:exon4:c.T345G:p.A115A;	6.80334177487392E-4	0.126
18	10533534	C	A	18	10533537	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon4:c.C211A:p.L71I;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.C211A:p.L71I;ENSG00000134265:ENST00000582472:exon4:c.C346A:p.L116I;	0.950118505211842	0.632
18	10533534	C	G	18	10533537	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon4:c.C211G:p.L71V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.C211G:p.L71V;ENSG00000134265:ENST00000582472:exon4:c.C346G:p.L116V;	0.396984697094766	0.432
18	10533534	C	T	18	10533537	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon4:c.C211T:p.L71F;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.C211T:p.L71F;ENSG00000134265:ENST00000582472:exon4:c.C346T:p.L116F;	0.5787119269592	0.594
18	10533548	C	A	18	10533551	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon4:c.C225A:p.A75A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.C225A:p.A75A;ENSG00000134265:ENST00000582472:exon4:c.C360A:p.A120A;	0.0293098508333662	0.212
18	10533548	C	G	18	10533551	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon4:c.C225G:p.A75A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.C225G:p.A75A;ENSG00000134265:ENST00000582472:exon4:c.C360G:p.A120A;	0.0399960226063846	0.2
18	10533548	C	T	18	10533551	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon4:c.C225T:p.A75A;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.C225T:p.A75A;ENSG00000134265:ENST00000582472:exon4:c.C360T:p.A120A;	0.773767989375839	0.614
18	10533549	A	C	18	10533552	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon4:c.A226C:p.K76Q;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.A226C:p.K76Q;ENSG00000134265:ENST00000582472:exon4:c.A361C:p.K121Q;	0.996001305902239	0.96
18	10533549	A	G	18	10533552	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon4:c.A226G:p.K76E;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.A226G:p.K76E;ENSG00000134265:ENST00000582472:exon4:c.A361G:p.K121E;	0.990141443295053	0.904
18	10533549	A	T	18	10533552	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon4:c.A226T:p.K76X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000322897:exon4:c.A226T:p.K76X;ENSG00000134265:ENST00000582472:exon4:c.A361T:p.K121X;	0.997743182879769	0.91
18	10533550	A	C	18	10533553	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon4:c.A227C:p.K76T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.A227C:p.K76T;ENSG00000134265:ENST00000582472:exon4:c.A362C:p.K121T;	0.26001516300099	0.57
18	10533550	A	G	18	10533553	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon4:c.A227G:p.K76R;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.A227G:p.K76R;ENSG00000134265:ENST00000582472:exon4:c.A362G:p.K121R;	0.0864460910964599	0.206
18	10533550	A	T	18	10533553	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon4:c.A227T:p.K76I;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon4:c.A227T:p.K76I;ENSG00000134265:ENST00000582472:exon4:c.A362T:p.K121I;	0.481298759232765	0.506
18	10533551	G	A	18	10533554	y	y	splicing	NAPG(NM_003826:exon4:c.227+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.159+1G>A;ENST00000322897:exon4:c.227+1G>A;ENST00000582472:exon4:c.362+1G>A)	.	.	0.999989072007339	0.934
18	10533551	G	C	18	10533554	y	y	splicing	NAPG(NM_003826:exon4:c.227+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.159+1G>C;ENST00000322897:exon4:c.227+1G>C;ENST00000582472:exon4:c.362+1G>C)	.	.	0.999989072007339	0.934
18	10533551	G	T	18	10533554	y	y	splicing	NAPG(NM_003826:exon4:c.227+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.159+1G>T;ENST00000322897:exon4:c.227+1G>T;ENST00000582472:exon4:c.362+1G>T)	.	.	0.999989072007339	0.934
18	10533552	T	A	18	10533555	y	y	splicing	NAPG(NM_003826:exon4:c.227+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.159+2T>A;ENST00000322897:exon4:c.227+2T>A;ENST00000582472:exon4:c.362+2T>A)	.	.	0.999988247793601	0.932
18	10533552	T	C	18	10533555	y	y	splicing	NAPG(NM_003826:exon4:c.227+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.159+2T>C;ENST00000322897:exon4:c.227+2T>C;ENST00000582472:exon4:c.362+2T>C)	.	.	0.994669226766359	0.704
18	10533552	T	G	18	10533555	y	y	splicing	NAPG(NM_003826:exon4:c.227+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580224:exon3:c.159+2T>G;ENST00000322897:exon4:c.227+2T>G;ENST00000582472:exon4:c.362+2T>G)	.	.	0.999988247793601	0.932
18	10533553	A	C	18	10533556	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999938357530341	0.966
18	10533553	A	G	18	10533556	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.971832523450789	0.492
18	10533553	A	T	18	10533556	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999702150243993	0.908
18	10533554	A	C	18	10533557	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999502947891505	0.93
18	10533554	A	G	18	10533557	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999409153224889	0.912
18	10533554	A	T	18	10533557	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.998592368004035	0.872
18	10533555	G	A	18	10533558	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999068969470202	0.84
18	10533555	G	C	18	10533558	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999441980065397	0.876
18	10533555	G	T	18	10533558	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999391685348427	0.72
18	10533556	T	A	18	10533559	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.932151710121625	0.662
18	10533556	T	C	18	10533559	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.721692241831169	0.73
18	10533556	T	G	18	10533559	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.78435619077022	0.624
18	10533557	A	C	18	10533560	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.10118258636667E-4	0.004
18	10533557	A	G	18	10533560	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.10118258636667E-4	0.002
18	10533557	A	T	18	10533560	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.28505895936581E-4	0.002
18	10533558	T	A	18	10533561	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.67610202049151E-4	0.01
18	10533558	T	C	18	10533561	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.30750909407398E-4	0.002
18	10533558	T	G	18	10533561	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.3240082392236E-4	0.0
18	10534451	T	A	18	10534454	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.967311819234443	0.6
18	10534451	T	C	18	10534454	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.510495360504652	0.446
18	10534451	T	G	18	10534454	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999941630772569	0.954
18	10534452	T	A	18	10534455	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.994504654833037	0.764
18	10534452	T	C	18	10534455	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.758995610787039	0.536
18	10534452	T	G	18	10534455	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.986211046690159	0.77
18	10534453	C	A	18	10534456	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00198284329358957	0.21
18	10534453	C	G	18	10534456	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00156919513978441	0.118
18	10534453	C	T	18	10534456	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.98550496435282E-4	0.25
18	10534454	T	A	18	10534457	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.982985493068282	0.634
18	10534454	T	C	18	10534457	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.81208473780906	0.502
18	10534454	T	G	18	10534457	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.975552707685451	0.606
18	10534455	C	A	18	10534458	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00694484223484333	0.102
18	10534455	C	G	18	10534458	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00235159720569419	0.054
18	10534455	C	T	18	10534458	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.46324910631477E-4	0.01
18	10534456	T	A	18	10534459	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.943655947037675	0.63
18	10534456	T	C	18	10534459	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.13713816013812	0.408
18	10534456	T	G	18	10534459	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.805903965631267	0.576
18	10534457	T	A	18	10534460	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0171670896746057	0.17
18	10534457	T	C	18	10534460	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.47186734738802E-5	0.032
18	10534457	T	G	18	10534460	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0119985289184231	0.152
18	10534458	T	A	18	10534461	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999795673970572	0.96
18	10534458	T	C	18	10534461	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.838863164961716	0.432
18	10534458	T	G	18	10534461	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.987230753145212	0.782
18	10534459	G	A	18	10534462	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0011761047936935	0.024
18	10534459	G	C	18	10534462	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.12786133517227E-4	0.012
18	10534459	G	T	18	10534462	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.13791560212751E-4	0.0
18	10534460	C	A	18	10534463	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.997875335326409	0.934
18	10534460	C	G	18	10534463	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999808320930374	0.932
18	10534460	C	T	18	10534463	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.70578371366279	0.376
18	10534461	A	C	18	10534464	y	y	splicing	NAPG(NM_003826:exon5:c.228-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon4:c.160-2A>C;ENST00000322897:exon5:c.228-2A>C;ENST00000582472:exon5:c.363-2A>C)	.	.	0.999988247793601	0.932
18	10534461	A	G	18	10534464	y	y	splicing	NAPG(NM_003826:exon5:c.228-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580224:exon4:c.160-2A>G;ENST00000322897:exon5:c.228-2A>G;ENST00000582472:exon5:c.363-2A>G)	.	.	0.999988247793601	0.932
18	10534461	A	T	18	10534464	y	y	splicing	NAPG(NM_003826:exon5:c.228-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580224:exon4:c.160-2A>T;ENST00000322897:exon5:c.228-2A>T;ENST00000582472:exon5:c.363-2A>T)	.	.	0.999988247793601	0.932
18	10534462	G	A	18	10534465	y	y	splicing	NAPG(NM_003826:exon5:c.228-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580224:exon4:c.160-1G>A;ENST00000322897:exon5:c.228-1G>A;ENST00000582472:exon5:c.363-1G>A)	.	.	0.999990361384395	0.938
18	10534462	G	C	18	10534465	y	y	splicing	NAPG(NM_003826:exon5:c.228-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580224:exon4:c.160-1G>C;ENST00000322897:exon5:c.228-1G>C;ENST00000582472:exon5:c.363-1G>C)	.	.	0.999990361384395	0.938
18	10534462	G	T	18	10534465	y	y	splicing	NAPG(NM_003826:exon5:c.228-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580224:exon4:c.160-1G>T;ENST00000322897:exon5:c.228-1G>T;ENST00000582472:exon5:c.363-1G>T)	.	.	0.999990361384395	0.938
18	10534463	A	C	18	10534466	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.A228C:p.K76N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon5:c.A228C:p.K76N;ENSG00000134265:ENST00000582472:exon5:c.A363C:p.K121N;	0.0040493892908372	0.188
18	10534463	A	G	18	10534466	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon5:c.A228G:p.K76K;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000322897:exon5:c.A228G:p.K76K;ENSG00000134265:ENST00000582472:exon5:c.A363G:p.K121K;	5.20027886749427E-4	0.056
18	10534463	A	T	18	10534466	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.A228T:p.K76N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon5:c.A228T:p.K76N;ENSG00000134265:ENST00000582472:exon5:c.A363T:p.K121N;	0.0263322225720401	0.148
18	10534464	G	A	18	10534467	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.G229A:p.A77T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon5:c.G229A:p.A77T;ENSG00000134265:ENST00000582472:exon5:c.G364A:p.A122T;	0.989420559361221	0.956
18	10534464	G	C	18	10534467	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.G229C:p.A77P;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon5:c.G229C:p.A77P;ENSG00000134265:ENST00000582472:exon5:c.G364C:p.A122P;	0.976356591778844	0.93
18	10534464	G	T	18	10534467	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.G229T:p.A77S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000322897:exon5:c.G229T:p.A77S;ENSG00000134265:ENST00000582472:exon5:c.G364T:p.A122S;	0.982035446610515	0.854
18	10534491	A	C	18	10534494	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.A256C:p.K86Q;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon4:c.A10C:p.K4Q;ENSG00000134265:ENST00000322897:exon5:c.A256C:p.K86Q;ENSG00000134265:ENST00000582472:exon5:c.A391C:p.K131Q;	0.883467132576374	0.608
18	10534491	A	G	18	10534494	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.A256G:p.K86E;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon4:c.A10G:p.K4E;ENSG00000134265:ENST00000322897:exon5:c.A256G:p.K86E;ENSG00000134265:ENST00000582472:exon5:c.A391G:p.K131E;	0.567204871316835	0.526
18	10534491	A	T	18	10534494	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon5:c.A256T:p.K86X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000542979:exon4:c.A10T:p.K4X;ENSG00000134265:ENST00000322897:exon5:c.A256T:p.K86X;ENSG00000134265:ENST00000582472:exon5:c.A391T:p.K131X;	0.996801414003619	0.768
18	10534492	A	C	18	10534495	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.A257C:p.K86T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon4:c.A11C:p.K4T;ENSG00000134265:ENST00000322897:exon5:c.A257C:p.K86T;ENSG00000134265:ENST00000582472:exon5:c.A392C:p.K131T;	0.999063742203767	0.966
18	10534492	A	G	18	10534495	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.A257G:p.K86R;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon4:c.A11G:p.K4R;ENSG00000134265:ENST00000322897:exon5:c.A257G:p.K86R;ENSG00000134265:ENST00000582472:exon5:c.A392G:p.K131R;	0.999269101337401	0.992
18	10534492	A	T	18	10534495	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.A257T:p.K86M;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon4:c.A11T:p.K4M;ENSG00000134265:ENST00000322897:exon5:c.A257T:p.K86M;ENSG00000134265:ENST00000582472:exon5:c.A392T:p.K131M;	0.999814983330752	0.994
18	10534493	G	A	18	10534496	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon5:c.G258A:p.K86K;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon4:c.G12A:p.K4K;ENSG00000134265:ENST00000322897:exon5:c.G258A:p.K86K;ENSG00000134265:ENST00000582472:exon5:c.G393A:p.K131K;	0.999972405502216	0.996
18	10534493	G	C	18	10534496	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.G258C:p.K86N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon4:c.G12C:p.K4N;ENSG00000134265:ENST00000322897:exon5:c.G258C:p.K86N;ENSG00000134265:ENST00000582472:exon5:c.G393C:p.K131N;	0.999991552405606	0.998
18	10534493	G	T	18	10534496	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon5:c.G258T:p.K86N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon4:c.G12T:p.K4N;ENSG00000134265:ENST00000322897:exon5:c.G258T:p.K86N;ENSG00000134265:ENST00000582472:exon5:c.G393T:p.K131N;	0.999980680042703	0.986
18	10534494	G	A	18	10534497	y	y	splicing	NAPG(NM_003826:exon5:c.258+1G>A)	.	.	splicing	ENSG00000134265(ENST00000542979:exon4:c.12+1G>A;ENST00000580224:exon4:c.190+1G>A;ENST00000322897:exon5:c.258+1G>A;ENST00000582472:exon5:c.393+1G>A)	.	.	0.999985532734767	0.938
18	10534494	G	C	18	10534497	y	y	splicing	NAPG(NM_003826:exon5:c.258+1G>C)	.	.	splicing	ENSG00000134265(ENST00000542979:exon4:c.12+1G>C;ENST00000580224:exon4:c.190+1G>C;ENST00000322897:exon5:c.258+1G>C;ENST00000582472:exon5:c.393+1G>C)	.	.	0.999985532734767	0.938
18	10534494	G	T	18	10534497	y	y	splicing	NAPG(NM_003826:exon5:c.258+1G>T)	.	.	splicing	ENSG00000134265(ENST00000542979:exon4:c.12+1G>T;ENST00000580224:exon4:c.190+1G>T;ENST00000322897:exon5:c.258+1G>T;ENST00000582472:exon5:c.393+1G>T)	.	.	0.999985532734767	0.938
18	10534495	T	A	18	10534498	y	y	splicing	NAPG(NM_003826:exon5:c.258+2T>A)	.	.	splicing	ENSG00000134265(ENST00000542979:exon4:c.12+2T>A;ENST00000580224:exon4:c.190+2T>A;ENST00000322897:exon5:c.258+2T>A;ENST00000582472:exon5:c.393+2T>A)	.	.	0.999988247793601	0.93
18	10534495	T	C	18	10534498	y	y	splicing	NAPG(NM_003826:exon5:c.258+2T>C)	.	.	splicing	ENSG00000134265(ENST00000542979:exon4:c.12+2T>C;ENST00000580224:exon4:c.190+2T>C;ENST00000322897:exon5:c.258+2T>C;ENST00000582472:exon5:c.393+2T>C)	.	.	0.99340600729494	0.68
18	10534495	T	G	18	10534498	y	y	splicing	NAPG(NM_003826:exon5:c.258+2T>G)	.	.	splicing	ENSG00000134265(ENST00000542979:exon4:c.12+2T>G;ENST00000580224:exon4:c.190+2T>G;ENST00000322897:exon5:c.258+2T>G;ENST00000582472:exon5:c.393+2T>G)	.	.	0.999988247793601	0.93
18	10534496	C	A	18	10534499	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.55906439369546E-4	0.056
18	10534496	C	G	18	10534499	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.58441982273248E-4	0.038
18	10534496	C	T	18	10534499	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.4165097491364E-4	0.014
18	10534497	A	C	18	10534500	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.997858690888696	0.924
18	10534497	A	G	18	10534500	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.996709917460973	0.854
18	10534497	A	T	18	10534500	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.996420086060895	0.878
18	10534498	G	A	18	10534501	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999739244631854	0.886
18	10534498	G	C	18	10534501	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999647123134157	0.666
18	10534498	G	T	18	10534501	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.99980291911382	0.876
18	10534499	T	A	18	10534502	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.782789558874129	0.774
18	10534499	T	C	18	10534502	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.703540891052315	0.702
18	10534499	T	G	18	10534502	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.976529818449248	0.736
18	10534500	A	C	18	10534503	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.65517587365007E-4	0.008
18	10534500	A	G	18	10534503	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.49649373890049E-4	0.084
18	10534500	A	T	18	10534503	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00401691472441599	0.312
18	10534501	A	C	18	10534504	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.06564563693746E-4	0.012
18	10534501	A	G	18	10534504	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.71831947355047E-5	0.004
18	10534501	A	T	18	10534504	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.36700160382024E-5	0.004
18	10539747	C	A	18	10539750	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.22170768169788E-4	0.08
18	10539747	C	G	18	10539750	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.45502688718927E-4	0.094
18	10539747	C	T	18	10539750	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.47075402074678E-5	0.008
18	10539748	T	A	18	10539751	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.132750464377698	0.59
18	10539748	T	C	18	10539751	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00673853930201101	0.14
18	10539748	T	G	18	10539751	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0168895197838804	0.44
18	10539749	T	A	18	10539752	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00595156034998121	0.152
18	10539749	T	C	18	10539752	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.95168163882293E-5	0.042
18	10539749	T	G	18	10539752	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00135833539540687	0.14
18	10539750	T	A	18	10539753	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999936907126854	0.96
18	10539750	T	C	18	10539753	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00299508736081662	0.08
18	10539750	T	G	18	10539753	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0257700610181621	0.27
18	10539751	G	A	18	10539754	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.78800512770625E-4	0.084
18	10539751	G	C	18	10539754	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.62931857322733E-5	0.026
18	10539751	G	T	18	10539754	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.73489076583797E-5	0.03
18	10539752	C	A	18	10539755	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.54648626945316E-4	0.084
18	10539752	C	G	18	10539755	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.52951075759844E-4	0.084
18	10539752	C	T	18	10539755	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.89708994097908E-5	0.0
18	10539753	C	A	18	10539756	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0126602872947014	0.226
18	10539753	C	G	18	10539756	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0126602872947014	0.222
18	10539753	C	T	18	10539756	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.87441215100444E-4	0.09
18	10539754	C	A	18	10539757	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0265154049003522	0.132
18	10539754	C	G	18	10539757	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.015350427701145	0.22
18	10539754	C	T	18	10539757	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.31747364370982E-4	0.072
18	10539755	A	C	18	10539758	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.29528486854766E-5	0.038
18	10539755	A	G	18	10539758	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.51197967105618E-5	0.054
18	10539755	A	T	18	10539758	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.19863138625404E-4	0.026
18	10539756	A	C	18	10539759	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.67492348642679E-4	0.064
18	10539756	A	G	18	10539759	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.117894662105308	0.24
18	10539756	A	T	18	10539759	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.71310369420028E-4	0.046
18	10539757	A	C	18	10539760	y	y	splicing	NAPG(NM_003826:exon6:c.259-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.57-2A>C;ENST00000542979:exon5:c.13-2A>C;ENST00000580224:exon5:c.191-2A>C;ENST00000322897:exon6:c.259-2A>C;ENST00000582472:exon6:c.394-2A>C)	.	.	0.999979394981131	0.902
18	10539757	A	G	18	10539760	y	y	splicing	NAPG(NM_003826:exon6:c.259-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.57-2A>G;ENST00000542979:exon5:c.13-2A>G;ENST00000580224:exon5:c.191-2A>G;ENST00000322897:exon6:c.259-2A>G;ENST00000582472:exon6:c.394-2A>G)	.	.	0.999979394981131	0.902
18	10539757	A	T	18	10539760	y	y	splicing	NAPG(NM_003826:exon6:c.259-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.57-2A>T;ENST00000542979:exon5:c.13-2A>T;ENST00000580224:exon5:c.191-2A>T;ENST00000322897:exon6:c.259-2A>T;ENST00000582472:exon6:c.394-2A>T)	.	.	0.999979394981131	0.902
18	10539758	G	A	18	10539761	y	y	splicing	NAPG(NM_003826:exon6:c.259-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.57-1G>A;ENST00000542979:exon5:c.13-1G>A;ENST00000580224:exon5:c.191-1G>A;ENST00000322897:exon6:c.259-1G>A;ENST00000582472:exon6:c.394-1G>A)	.	.	0.999987986734451	0.904
18	10539758	G	C	18	10539761	y	y	splicing	NAPG(NM_003826:exon6:c.259-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.57-1G>C;ENST00000542979:exon5:c.13-1G>C;ENST00000580224:exon5:c.191-1G>C;ENST00000322897:exon6:c.259-1G>C;ENST00000582472:exon6:c.394-1G>C)	.	.	0.999987986734451	0.912
18	10539758	G	T	18	10539761	y	y	splicing	NAPG(NM_003826:exon6:c.259-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.57-1G>T;ENST00000542979:exon5:c.13-1G>T;ENST00000580224:exon5:c.191-1G>T;ENST00000322897:exon6:c.259-1G>T;ENST00000582472:exon6:c.394-1G>T)	.	.	0.999987986734451	0.912
18	10539759	G	A	18	10539762	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.G259A:p.E87K;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.G13A:p.E5K;ENSG00000134265:ENST00000322897:exon6:c.G259A:p.E87K;ENSG00000134265:ENST00000582472:exon6:c.G394A:p.E132K;	0.999850144561269	0.898
18	10539759	G	C	18	10539762	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.G259C:p.E87Q;	exonic	ENSG00000134265	stoploss SNV	ENSG00000134265:ENST00000580483:exon2:c.G57C:p.X19Y;	0.999649075257471	0.962
18	10539759	G	T	18	10539762	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon6:c.G259T:p.E87X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000542979:exon5:c.G13T:p.E5X;ENSG00000134265:ENST00000322897:exon6:c.G259T:p.E87X;ENSG00000134265:ENST00000582472:exon6:c.G394T:p.E132X;	0.999869000323921	0.948
18	10539760	A	C	18	10539763	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.A260C:p.E87A;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A14C:p.E5A;ENSG00000134265:ENST00000322897:exon6:c.A260C:p.E87A;ENSG00000134265:ENST00000582472:exon6:c.A395C:p.E132A;	0.836917945501166	0.788
18	10539760	A	G	18	10539763	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.A260G:p.E87G;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A14G:p.E5G;ENSG00000134265:ENST00000322897:exon6:c.A260G:p.E87G;ENSG00000134265:ENST00000582472:exon6:c.A395G:p.E132G;	0.871101725631013	0.722
18	10539760	A	T	18	10539763	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.A260T:p.E87V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A14T:p.E5V;ENSG00000134265:ENST00000322897:exon6:c.A260T:p.E87V;ENSG00000134265:ENST00000582472:exon6:c.A395T:p.E132V;	0.830902088809182	0.73
18	10539866	A	C	18	10539869	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon6:c.A366C:p.G122G;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A120C:p.G40G;ENSG00000134265:ENST00000322897:exon6:c.A366C:p.G122G;ENSG00000134265:ENST00000582472:exon6:c.A501C:p.G167G;	2.23917985040009E-5	0.0
18	10539866	A	G	18	10539869	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon6:c.A366G:p.G122G;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A120G:p.G40G;ENSG00000134265:ENST00000322897:exon6:c.A366G:p.G122G;ENSG00000134265:ENST00000582472:exon6:c.A501G:p.G167G;	0.00158576671031075	0.164
18	10539866	A	T	18	10539869	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon6:c.A366T:p.G122G;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A120T:p.G40G;ENSG00000134265:ENST00000322897:exon6:c.A366T:p.G122G;ENSG00000134265:ENST00000582472:exon6:c.A501T:p.G167G;	0.0128412519725771	0.324
18	10539867	A	C	18	10539870	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.A367C:p.K123Q;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A121C:p.K41Q;ENSG00000134265:ENST00000322897:exon6:c.A367C:p.K123Q;	0.983043996920149	0.824
18	10539867	A	G	18	10539870	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.A367G:p.K123E;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A121G:p.K41E;ENSG00000134265:ENST00000322897:exon6:c.A367G:p.K123E;	0.999219599123833	0.894
18	10539867	A	T	18	10539870	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon6:c.A367T:p.K123X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000542979:exon5:c.A121T:p.K41X;ENSG00000134265:ENST00000322897:exon6:c.A367T:p.K123X;	0.999464678840911	0.958
18	10539868	A	C	18	10539871	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.A368C:p.K123T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A122C:p.K41T;ENSG00000134265:ENST00000322897:exon6:c.A368C:p.K123T;	0.641279000494006	0.686
18	10539868	A	G	18	10539871	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.A368G:p.K123R;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A122G:p.K41R;ENSG00000134265:ENST00000322897:exon6:c.A368G:p.K123R;	0.360129757918443	0.226
18	10539868	A	T	18	10539871	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon6:c.A368T:p.K123M;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon5:c.A122T:p.K41M;ENSG00000134265:ENST00000322897:exon6:c.A368T:p.K123M;	0.91530814182897	0.596
18	10539869	G	A	18	10539872	y	y	splicing	NAPG(NM_003826:exon6:c.368+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.166+1G>A;ENST00000542979:exon5:c.122+1G>A;ENST00000580224:exon5:c.300+1G>A;ENST00000322897:exon6:c.368+1G>A)	.	.	0.999989072007339	0.922
18	10539869	G	C	18	10539872	y	y	splicing	NAPG(NM_003826:exon6:c.368+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.166+1G>C;ENST00000542979:exon5:c.122+1G>C;ENST00000580224:exon5:c.300+1G>C;ENST00000322897:exon6:c.368+1G>C)	.	.	0.999989072007339	0.92
18	10539869	G	T	18	10539872	y	y	splicing	NAPG(NM_003826:exon6:c.368+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.166+1G>T;ENST00000542979:exon5:c.122+1G>T;ENST00000580224:exon5:c.300+1G>T;ENST00000322897:exon6:c.368+1G>T)	.	.	0.999989072007339	0.922
18	10539870	T	A	18	10539873	y	y	splicing	NAPG(NM_003826:exon6:c.368+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.166+2T>A;ENST00000542979:exon5:c.122+2T>A;ENST00000580224:exon5:c.300+2T>A;ENST00000322897:exon6:c.368+2T>A)	.	.	0.999988247793601	0.918
18	10539870	T	C	18	10539873	y	y	splicing	NAPG(NM_003826:exon6:c.368+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.166+2T>C;ENST00000542979:exon5:c.122+2T>C;ENST00000580224:exon5:c.300+2T>C;ENST00000322897:exon6:c.368+2T>C)	.	.	0.99991520749976	0.86
18	10539870	T	G	18	10539873	y	y	splicing	NAPG(NM_003826:exon6:c.368+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon2:c.166+2T>G;ENST00000542979:exon5:c.122+2T>G;ENST00000580224:exon5:c.300+2T>G;ENST00000322897:exon6:c.368+2T>G)	.	.	0.999988247793601	0.916
18	10539871	G	A	18	10539874	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.60498678085274E-4	0.002
18	10539871	G	C	18	10539874	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.988502474065452	0.668
18	10539871	G	T	18	10539874	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.923910619499681	0.628
18	10539872	A	C	18	10539875	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.989968776916692	0.866
18	10539872	A	G	18	10539875	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.995786386697907	0.936
18	10539872	A	T	18	10539875	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.998865658232679	0.954
18	10539873	G	A	18	10539876	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.99997122293579	0.984
18	10539873	G	C	18	10539876	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999932904428563	0.988
18	10539873	G	T	18	10539876	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999973756785616	0.99
18	10539874	T	A	18	10539877	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.79519990704455	0.668
18	10539874	T	C	18	10539877	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.428536014486469	0.444
18	10539874	T	G	18	10539877	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.77147666065706	0.668
18	10539875	G	A	18	10539878	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	8.54651024990547E-4	0.008
18	10539875	G	C	18	10539878	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.60101642729147E-4	0.028
18	10539875	G	T	18	10539878	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00337359132931084	0.046
18	10539876	T	A	18	10539879	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.17543716584614E-4	0.008
18	10539876	T	C	18	10539879	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.62562386211767E-4	0.004
18	10539876	T	G	18	10539879	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.17543716584614E-4	0.004
18	10539973	T	A	18	10539976	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999667723899664	0.894
18	10539973	T	C	18	10539976	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00242991978684119	0.268
18	10539973	T	G	18	10539976	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0615871985144338	0.426
18	10539974	G	A	18	10539977	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00591697716482187	0.078
18	10539974	G	C	18	10539977	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.50764726346987E-4	0.004
18	10539974	G	T	18	10539977	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.50764726346987E-4	0.036
18	10539975	T	A	18	10539978	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.98314944895066	0.766
18	10539975	T	C	18	10539978	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0142189590732357	0.194
18	10539975	T	G	18	10539978	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.885549830587199	0.782
18	10539976	C	A	18	10539979	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00612732178359715	0.084
18	10539976	C	G	18	10539979	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00263745187854483	0.07
18	10539976	C	T	18	10539979	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.2148448368878E-5	0.0
18	10539977	T	A	18	10539980	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999887026367967	0.946
18	10539977	T	C	18	10539980	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00269105078026264	0.08
18	10539977	T	G	18	10539980	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.190474166473098	0.418
18	10539978	G	A	18	10539981	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.60029212078762E-4	0.006
18	10539978	G	C	18	10539981	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.47999167973341E-6	0.018
18	10539978	G	T	18	10539981	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.47999167973341E-6	0.01
18	10539979	A	C	18	10539982	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.56479862100815E-4	0.004
18	10539979	A	G	18	10539982	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.48485315963652E-4	0.008
18	10539979	A	T	18	10539982	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.2982623426372E-4	0.006
18	10539980	T	A	18	10539983	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.335819958921924	0.442
18	10539980	T	C	18	10539983	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0378594735991366	0.292
18	10539980	T	G	18	10539983	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999858419703642	0.96
18	10539981	T	A	18	10539984	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.53034935625912E-5	0.002
18	10539981	T	C	18	10539984	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.70930813785503E-5	0.0
18	10539981	T	G	18	10539984	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.59874476753849E-4	0.002
18	10539982	C	A	18	10539985	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.530348400790625	0.572
18	10539982	C	G	18	10539985	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999714595960614	0.924
18	10539982	C	T	18	10539985	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.02813515139828E-4	0.052
18	10539983	A	C	18	10539986	y	y	splicing	NAPG(NM_003826:exon7:c.369-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.167-2A>C;ENST00000542979:exon6:c.123-2A>C;ENST00000580224:exon6:c.301-2A>C;ENST00000322897:exon7:c.369-2A>C)	.	.	0.999988247793601	0.94
18	10539983	A	G	18	10539986	y	y	splicing	NAPG(NM_003826:exon7:c.369-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.167-2A>G;ENST00000542979:exon6:c.123-2A>G;ENST00000580224:exon6:c.301-2A>G;ENST00000322897:exon7:c.369-2A>G)	.	.	0.999988247793601	0.94
18	10539983	A	T	18	10539986	y	y	splicing	NAPG(NM_003826:exon7:c.369-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.167-2A>T;ENST00000542979:exon6:c.123-2A>T;ENST00000580224:exon6:c.301-2A>T;ENST00000322897:exon7:c.369-2A>T)	.	.	0.999988247793601	0.94
18	10539984	G	A	18	10539987	y	y	splicing	NAPG(NM_003826:exon7:c.369-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.167-1G>A;ENST00000542979:exon6:c.123-1G>A;ENST00000580224:exon6:c.301-1G>A;ENST00000322897:exon7:c.369-1G>A)	.	.	0.999989072007339	0.944
18	10539984	G	C	18	10539987	y	y	splicing	NAPG(NM_003826:exon7:c.369-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.167-1G>C;ENST00000542979:exon6:c.123-1G>C;ENST00000580224:exon6:c.301-1G>C;ENST00000322897:exon7:c.369-1G>C)	.	.	0.999989072007339	0.944
18	10539984	G	T	18	10539987	y	y	splicing	NAPG(NM_003826:exon7:c.369-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.167-1G>T;ENST00000542979:exon6:c.123-1G>T;ENST00000580224:exon6:c.301-1G>T;ENST00000322897:exon7:c.369-1G>T)	.	.	0.999989072007339	0.944
18	10539985	G	A	18	10539988	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon7:c.G369A:p.K123K;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.G123A:p.K41K;ENSG00000134265:ENST00000322897:exon7:c.G369A:p.K123K;	0.97761352303696	0.69
18	10539985	G	C	18	10539988	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.G369C:p.K123N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.G123C:p.K41N;ENSG00000134265:ENST00000322897:exon7:c.G369C:p.K123N;	0.999806234768274	0.99
18	10539985	G	T	18	10539988	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.G369T:p.K123N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.G123T:p.K41N;ENSG00000134265:ENST00000322897:exon7:c.G369T:p.K123N;	0.999836136273707	0.984
18	10539986	C	A	18	10539989	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.C370A:p.L124I;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.C124A:p.L42I;ENSG00000134265:ENST00000322897:exon7:c.C370A:p.L124I;	0.0278495546157744	0.122
18	10539986	C	G	18	10539989	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.C370G:p.L124V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.C124G:p.L42V;ENSG00000134265:ENST00000322897:exon7:c.C370G:p.L124V;	0.515256052964139	0.518
18	10539986	C	T	18	10539989	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.C370T:p.L124F;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.C124T:p.L42F;ENSG00000134265:ENST00000322897:exon7:c.C370T:p.L124F;	0.656881592663781	0.556
18	10540049	G	A	18	10540052	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.G433A:p.E145K;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.G187A:p.E63K;ENSG00000134265:ENST00000322897:exon7:c.G433A:p.E145K;	0.963934380011275	0.804
18	10540049	G	C	18	10540052	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.G433C:p.E145Q;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.G187C:p.E63Q;ENSG00000134265:ENST00000322897:exon7:c.G433C:p.E145Q;	0.949814532875941	0.78
18	10540049	G	T	18	10540052	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon7:c.G433T:p.E145X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000542979:exon6:c.G187T:p.E63X;ENSG00000134265:ENST00000322897:exon7:c.G433T:p.E145X;	0.987299955871979	0.872
18	10540050	A	C	18	10540053	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.A434C:p.E145A;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.A188C:p.E63A;ENSG00000134265:ENST00000322897:exon7:c.A434C:p.E145A;	0.995321197431332	0.934
18	10540050	A	G	18	10540053	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.A434G:p.E145G;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.A188G:p.E63G;ENSG00000134265:ENST00000322897:exon7:c.A434G:p.E145G;	0.996563026553047	0.892
18	10540050	A	T	18	10540053	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.A434T:p.E145V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.A188T:p.E63V;ENSG00000134265:ENST00000322897:exon7:c.A434T:p.E145V;	0.99758575106343	0.93
18	10540051	A	C	18	10540054	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.A435C:p.E145D;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.A189C:p.E63D;ENSG00000134265:ENST00000322897:exon7:c.A435C:p.E145D;	2.59923857395288E-5	0.156
18	10540051	A	G	18	10540054	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon7:c.A435G:p.E145E;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.A189G:p.E63E;ENSG00000134265:ENST00000322897:exon7:c.A435G:p.E145E;	4.27991636664709E-5	0.03
18	10540051	A	T	18	10540054	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon7:c.A435T:p.E145D;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon6:c.A189T:p.E63D;ENSG00000134265:ENST00000322897:exon7:c.A435T:p.E145D;	1.83252346356469E-4	0.122
18	10540052	G	A	18	10540055	y	y	splicing	NAPG(NM_003826:exon7:c.435+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.233+1G>A;ENST00000542979:exon6:c.189+1G>A;ENST00000580224:exon6:c.367+1G>A;ENST00000322897:exon7:c.435+1G>A)	.	.	0.999989072007339	0.928
18	10540052	G	C	18	10540055	y	y	splicing	NAPG(NM_003826:exon7:c.435+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.233+1G>C;ENST00000542979:exon6:c.189+1G>C;ENST00000580224:exon6:c.367+1G>C;ENST00000322897:exon7:c.435+1G>C)	.	.	0.999989072007339	0.928
18	10540052	G	T	18	10540055	y	y	splicing	NAPG(NM_003826:exon7:c.435+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.233+1G>T;ENST00000542979:exon6:c.189+1G>T;ENST00000580224:exon6:c.367+1G>T;ENST00000322897:exon7:c.435+1G>T)	.	.	0.999989072007339	0.928
18	10540053	T	A	18	10540056	y	y	splicing	NAPG(NM_003826:exon7:c.435+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.233+2T>A;ENST00000542979:exon6:c.189+2T>A;ENST00000580224:exon6:c.367+2T>A;ENST00000322897:exon7:c.435+2T>A)	.	.	0.999988247793601	0.932
18	10540053	T	C	18	10540056	y	y	splicing	NAPG(NM_003826:exon7:c.435+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.233+2T>C;ENST00000542979:exon6:c.189+2T>C;ENST00000580224:exon6:c.367+2T>C;ENST00000322897:exon7:c.435+2T>C)	.	.	0.992286765165952	0.66
18	10540053	T	G	18	10540056	y	y	splicing	NAPG(NM_003826:exon7:c.435+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon3:c.233+2T>G;ENST00000542979:exon6:c.189+2T>G;ENST00000580224:exon6:c.367+2T>G;ENST00000322897:exon7:c.435+2T>G)	.	.	0.999988247793601	0.932
18	10540054	A	C	18	10540057	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999883420818848	0.924
18	10540054	A	G	18	10540057	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.626272879307978	0.468
18	10540054	A	T	18	10540057	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.998733163644357	0.946
18	10540055	A	C	18	10540058	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.96593768901987	0.678
18	10540055	A	G	18	10540058	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.990897829035503	0.866
18	10540055	A	T	18	10540058	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.987581108087911	0.762
18	10540056	G	A	18	10540059	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999504454808545	0.974
18	10540056	G	C	18	10540059	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999795470948575	0.98
18	10540056	G	T	18	10540059	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999954162330168	0.938
18	10540057	T	A	18	10540060	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.824859617529527	0.538
18	10540057	T	C	18	10540060	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.521049623077991	0.562
18	10540057	T	G	18	10540060	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.74310828286926	0.482
18	10540058	T	A	18	10540061	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0284646296198048	0.104
18	10540058	T	C	18	10540061	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0139332772351148	0.044
18	10540058	T	G	18	10540061	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0139332772351148	0.042
18	10540059	T	A	18	10540062	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.09208694404029E-4	0.01
18	10540059	T	C	18	10540062	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.4957221482804E-4	0.004
18	10540059	T	G	18	10540062	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.16182132444487E-4	0.008
18	10540314	T	A	18	10540317	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999717028268839	0.93
18	10540314	T	C	18	10540317	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.62890339265507E-4	0.006
18	10540314	T	G	18	10540317	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0720541127049156	0.43
18	10540315	G	A	18	10540318	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.4990088784726E-4	0.0
18	10540315	G	C	18	10540318	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.96598772584286E-5	0.002
18	10540315	G	T	18	10540318	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.10632054731661E-5	0.0
18	10540316	A	C	18	10540319	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.92911822984777E-4	0.068
18	10540316	A	G	18	10540319	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.09928353680539E-4	0.09
18	10540316	A	T	18	10540319	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.19018165491551E-4	0.092
18	10540317	T	A	18	10540320	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.454762089397299	0.446
18	10540317	T	C	18	10540320	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.53772748503453E-5	0.016
18	10540317	T	G	18	10540320	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999787764181172	0.914
18	10540318	T	A	18	10540321	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.109600714715598	0.336
18	10540318	T	C	18	10540321	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.75195573187946E-4	0.006
18	10540318	T	G	18	10540321	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0287867932251128	0.28
18	10540319	C	A	18	10540322	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.013235637666866	0.228
18	10540319	C	G	18	10540322	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0173133047059679	0.216
18	10540319	C	T	18	10540322	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.13453317827745E-4	0.18
18	10540320	C	A	18	10540323	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0159867069379211	0.236
18	10540320	C	G	18	10540323	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0144169329024385	0.278
18	10540320	C	T	18	10540323	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	8.59594796170053E-5	0.006
18	10540321	T	A	18	10540324	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.268197046762824	0.254
18	10540321	T	C	18	10540324	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.6228281602431E-4	0.004
18	10540321	T	G	18	10540324	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.577012480835356	0.224
18	10540322	T	A	18	10540325	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.41479966623676E-4	0.018
18	10540322	T	C	18	10540325	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.38992616813433E-4	0.014
18	10540322	T	G	18	10540325	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.01442449664853E-5	0.006
18	10540323	C	A	18	10540326	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.990587073455456	0.66
18	10540323	C	G	18	10540326	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999855525017549	0.958
18	10540323	C	T	18	10540326	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00488206693420425	0.034
18	10540324	A	C	18	10540327	y	y	splicing	NAPG(NM_003826:exon8:c.436-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.234-2A>C;ENST00000542979:exon7:c.190-2A>C;ENST00000580224:exon7:c.368-2A>C;ENST00000322897:exon8:c.436-2A>C)	.	.	0.999988247793601	0.93
18	10540324	A	G	18	10540327	y	y	splicing	NAPG(NM_003826:exon8:c.436-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.234-2A>G;ENST00000542979:exon7:c.190-2A>G;ENST00000580224:exon7:c.368-2A>G;ENST00000322897:exon8:c.436-2A>G)	.	.	0.999988247793601	0.93
18	10540324	A	T	18	10540327	y	y	splicing	NAPG(NM_003826:exon8:c.436-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.234-2A>T;ENST00000542979:exon7:c.190-2A>T;ENST00000580224:exon7:c.368-2A>T;ENST00000322897:exon8:c.436-2A>T)	.	.	0.999988247793601	0.93
18	10540325	G	A	18	10540328	y	y	splicing	NAPG(NM_003826:exon8:c.436-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.234-1G>A;ENST00000542979:exon7:c.190-1G>A;ENST00000580224:exon7:c.368-1G>A;ENST00000322897:exon8:c.436-1G>A)	.	.	0.999990361384395	0.938
18	10540325	G	C	18	10540328	y	y	splicing	NAPG(NM_003826:exon8:c.436-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.234-1G>C;ENST00000542979:exon7:c.190-1G>C;ENST00000580224:exon7:c.368-1G>C;ENST00000322897:exon8:c.436-1G>C)	.	.	0.999990361384395	0.938
18	10540325	G	T	18	10540328	y	y	splicing	NAPG(NM_003826:exon8:c.436-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.234-1G>T;ENST00000542979:exon7:c.190-1G>T;ENST00000580224:exon7:c.368-1G>T;ENST00000322897:exon8:c.436-1G>T)	.	.	0.999990361384395	0.938
18	10540326	A	C	18	10540329	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.A436C:p.N146H;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A190C:p.N64H;ENSG00000134265:ENST00000322897:exon8:c.A436C:p.N146H;	0.662277294069517	0.698
18	10540326	A	G	18	10540329	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.A436G:p.N146D;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A190G:p.N64D;ENSG00000134265:ENST00000322897:exon8:c.A436G:p.N146D;	0.723396275066965	0.714
18	10540326	A	T	18	10540329	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.A436T:p.N146Y;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A190T:p.N64Y;ENSG00000134265:ENST00000322897:exon8:c.A436T:p.N146Y;	0.578788145287501	0.634
18	10540327	A	C	18	10540330	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.A437C:p.N146T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A191C:p.N64T;ENSG00000134265:ENST00000322897:exon8:c.A437C:p.N146T;	0.940418293997857	0.862
18	10540327	A	G	18	10540330	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.A437G:p.N146S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A191G:p.N64S;ENSG00000134265:ENST00000322897:exon8:c.A437G:p.N146S;	0.587748512020208	0.506
18	10540327	A	T	18	10540330	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.A437T:p.N146I;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A191T:p.N64I;ENSG00000134265:ENST00000322897:exon8:c.A437T:p.N146I;	0.912113728420781	0.814
18	10540394	T	A	18	10540397	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon8:c.T504A:p.R168R;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.T258A:p.R86R;ENSG00000134265:ENST00000322897:exon8:c.T504A:p.R168R;	1.0346957338557E-4	0.076
18	10540394	T	C	18	10540397	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon8:c.T504C:p.R168R;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.T258C:p.R86R;ENSG00000134265:ENST00000322897:exon8:c.T504C:p.R168R;	1.0346957338557E-4	0.046
18	10540394	T	G	18	10540397	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon8:c.T504G:p.R168R;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.T258G:p.R86R;ENSG00000134265:ENST00000322897:exon8:c.T504G:p.R168R;	2.72311888821138E-4	0.112
18	10540395	A	C	18	10540398	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon8:c.A505C:p.R169R;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A259C:p.R87R;ENSG00000134265:ENST00000322897:exon8:c.A505C:p.R169R;	0.634265950010153	0.684
18	10540395	A	G	18	10540398	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.A505G:p.R169G;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A259G:p.R87G;ENSG00000134265:ENST00000322897:exon8:c.A505G:p.R169G;	0.992784218825065	0.816
18	10540395	A	T	18	10540398	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.A505T:p.R169W;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.A259T:p.R87W;ENSG00000134265:ENST00000322897:exon8:c.A505T:p.R169W;	0.990410702841387	0.786
18	10540396	G	A	18	10540399	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.G506A:p.R169K;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.G260A:p.R87K;ENSG00000134265:ENST00000322897:exon8:c.G506A:p.R169K;	0.999850894313301	0.998
18	10540396	G	C	18	10540399	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.G506C:p.R169T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.G260C:p.R87T;ENSG00000134265:ENST00000322897:exon8:c.G506C:p.R169T;	0.999986176609729	0.99
18	10540396	G	T	18	10540399	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon8:c.G506T:p.R169M;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon7:c.G260T:p.R87M;ENSG00000134265:ENST00000322897:exon8:c.G506T:p.R169M;	0.999921019443959	1.0
18	10540397	G	A	18	10540400	y	y	splicing	NAPG(NM_003826:exon8:c.506+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.304+1G>A;ENST00000542979:exon7:c.260+1G>A;ENST00000580224:exon7:c.438+1G>A;ENST00000322897:exon8:c.506+1G>A)	.	.	0.999990361384395	0.938
18	10540397	G	C	18	10540400	y	y	splicing	NAPG(NM_003826:exon8:c.506+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.304+1G>C;ENST00000542979:exon7:c.260+1G>C;ENST00000580224:exon7:c.438+1G>C;ENST00000322897:exon8:c.506+1G>C)	.	.	0.999990361384395	0.938
18	10540397	G	T	18	10540400	y	y	splicing	NAPG(NM_003826:exon8:c.506+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.304+1G>T;ENST00000542979:exon7:c.260+1G>T;ENST00000580224:exon7:c.438+1G>T;ENST00000322897:exon8:c.506+1G>T)	.	.	0.999990361384395	0.938
18	10540398	T	A	18	10540401	y	y	splicing	NAPG(NM_003826:exon8:c.506+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.304+2T>A;ENST00000542979:exon7:c.260+2T>A;ENST00000580224:exon7:c.438+2T>A;ENST00000322897:exon8:c.506+2T>A)	.	.	0.999986607513753	0.916
18	10540398	T	C	18	10540401	y	y	splicing	NAPG(NM_003826:exon8:c.506+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.304+2T>C;ENST00000542979:exon7:c.260+2T>C;ENST00000580224:exon7:c.438+2T>C;ENST00000322897:exon8:c.506+2T>C)	.	.	0.989722594634724	0.578
18	10540398	T	G	18	10540401	y	y	splicing	NAPG(NM_003826:exon8:c.506+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon4:c.304+2T>G;ENST00000542979:exon7:c.260+2T>G;ENST00000580224:exon7:c.438+2T>G;ENST00000322897:exon8:c.506+2T>G)	.	.	0.999986607513753	0.914
18	10540399	A	C	18	10540402	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.986660563884584	0.61
18	10540399	A	G	18	10540402	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.858574870728373	0.534
18	10540399	A	T	18	10540402	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.995658718547997	0.578
18	10540400	T	A	18	10540403	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.11208113302032E-5	0.018
18	10540400	T	C	18	10540403	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.44454674516076E-5	0.0
18	10540400	T	G	18	10540403	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.6360438045919E-5	0.008
18	10540401	G	A	18	10540404	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.63911996325177	0.498
18	10540401	G	C	18	10540404	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.926020492788361	0.678
18	10540401	G	T	18	10540404	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.76019522240888	0.506
18	10540402	T	A	18	10540405	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0285649624669192	0.178
18	10540402	T	C	18	10540405	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0191795944670208	0.258
18	10540402	T	G	18	10540405	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00484130812821979	0.142
18	10540403	C	A	18	10540406	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.37764044069023E-5	0.0
18	10540403	C	G	18	10540406	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.90278179808111E-4	0.0
18	10540403	C	T	18	10540406	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.96345128934093E-4	0.016
18	10540404	T	A	18	10540407	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.6412967361558E-4	0.008
18	10540404	T	C	18	10540407	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.85232437227209E-4	0.004
18	10540404	T	G	18	10540407	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.24083424307563E-4	0.002
18	10546311	G	A	18	10546314	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.92647480263817E-5	0.006
18	10546311	G	C	18	10546314	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.78374745094401E-5	0.012
18	10546311	G	T	18	10546314	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.81153114306223E-5	0.012
18	10546312	T	A	18	10546315	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.206526221589201	0.412
18	10546312	T	C	18	10546315	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0180452012002495	0.194
18	10546312	T	G	18	10546315	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.276369350790075	0.378
18	10546313	T	A	18	10546316	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0819616516285292	0.404
18	10546313	T	C	18	10546316	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.76142364979343E-4	0.046
18	10546313	T	G	18	10546316	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0287394154354103	0.458
18	10546314	T	A	18	10546317	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.25619236620004E-4	0.284
18	10546314	T	C	18	10546317	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.30772116181681E-5	0.002
18	10546314	T	G	18	10546317	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.97149153193798E-4	0.272
18	10546315	T	A	18	10546318	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.741158402275222	0.93
18	10546315	T	C	18	10546318	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.04357748380382E-5	0.006
18	10546315	T	G	18	10546318	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.72823553320527E-4	0.04
18	10546316	G	A	18	10546319	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.21637709955853E-5	0.016
18	10546316	G	C	18	10546319	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.26104249284595E-6	0.01
18	10546316	G	T	18	10546319	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.75101194892847E-6	0.01
18	10546317	T	A	18	10546320	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0823178148513873	0.466
18	10546317	T	C	18	10546320	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.05153708552157E-4	0.042
18	10546317	T	G	18	10546320	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0770638918892426	0.432
18	10546318	T	A	18	10546321	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.149981037425776	0.346
18	10546318	T	C	18	10546321	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00161525000397039	0.022
18	10546318	T	G	18	10546321	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.138032267304947	0.356
18	10546319	T	A	18	10546322	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.01351539718544E-4	0.034
18	10546319	T	C	18	10546322	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.8920790054498E-4	0.024
18	10546319	T	G	18	10546322	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.31549345362266E-4	0.036
18	10546320	T	A	18	10546323	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00139956828612676	0.106
18	10546320	T	C	18	10546323	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	8.27423211371702E-5	0.008
18	10546320	T	G	18	10546323	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.817229310181689	0.538
18	10546321	A	C	18	10546324	y	y	splicing	NAPG(NM_003826:exon9:c.507-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.305-2A>C;ENST00000542979:exon8:c.261-2A>C;ENST00000580224:exon8:c.439-2A>C;ENST00000322897:exon9:c.507-2A>C)	.	.	0.999988247793601	0.928
18	10546321	A	G	18	10546324	y	y	splicing	NAPG(NM_003826:exon9:c.507-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.305-2A>G;ENST00000542979:exon8:c.261-2A>G;ENST00000580224:exon8:c.439-2A>G;ENST00000322897:exon9:c.507-2A>G)	.	.	0.999988247793601	0.928
18	10546321	A	T	18	10546324	y	y	splicing	NAPG(NM_003826:exon9:c.507-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.305-2A>T;ENST00000542979:exon8:c.261-2A>T;ENST00000580224:exon8:c.439-2A>T;ENST00000322897:exon9:c.507-2A>T)	.	.	0.999988247793601	0.928
18	10546322	G	A	18	10546325	y	y	splicing	NAPG(NM_003826:exon9:c.507-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.305-1G>A;ENST00000542979:exon8:c.261-1G>A;ENST00000580224:exon8:c.439-1G>A;ENST00000322897:exon9:c.507-1G>A)	.	.	0.999989483462543	0.938
18	10546322	G	C	18	10546325	y	y	splicing	NAPG(NM_003826:exon9:c.507-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.305-1G>C;ENST00000542979:exon8:c.261-1G>C;ENST00000580224:exon8:c.439-1G>C;ENST00000322897:exon9:c.507-1G>C)	.	.	0.999989483462543	0.936
18	10546322	G	T	18	10546325	y	y	splicing	NAPG(NM_003826:exon9:c.507-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.305-1G>T;ENST00000542979:exon8:c.261-1G>T;ENST00000580224:exon8:c.439-1G>T;ENST00000322897:exon9:c.507-1G>T)	.	.	0.999989483462543	0.936
18	10546323	G	A	18	10546326	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon9:c.G507A:p.R169R;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.G261A:p.R87R;ENSG00000134265:ENST00000322897:exon9:c.G507A:p.R169R;	0.00400311481081263	0.148
18	10546323	G	C	18	10546326	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.G507C:p.R169S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.G261C:p.R87S;ENSG00000134265:ENST00000322897:exon9:c.G507C:p.R169S;	0.0498702368684515	0.42
18	10546323	G	T	18	10546326	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.G507T:p.R169S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.G261T:p.R87S;ENSG00000134265:ENST00000322897:exon9:c.G507T:p.R169S;	0.301840380120185	0.522
18	10546324	T	A	18	10546327	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.T508A:p.F170I;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.T262A:p.F88I;ENSG00000134265:ENST00000322897:exon9:c.T508A:p.F170I;	0.0743002459600236	0.282
18	10546324	T	C	18	10546327	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.T508C:p.F170L;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.T262C:p.F88L;ENSG00000134265:ENST00000322897:exon9:c.T508C:p.F170L;	0.00941339380964178	0.1
18	10546324	T	G	18	10546327	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.T508G:p.F170V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.T262G:p.F88V;ENSG00000134265:ENST00000322897:exon9:c.T508G:p.F170V;	0.0210207636815695	0.154
18	10546399	A	C	18	10546402	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.A583C:p.K195Q;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.A337C:p.K113Q;ENSG00000134265:ENST00000322897:exon9:c.A583C:p.K195Q;	0.703083885267639	0.718
18	10546399	A	G	18	10546402	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.A583G:p.K195E;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.A337G:p.K113E;ENSG00000134265:ENST00000322897:exon9:c.A583G:p.K195E;	0.442525558468435	0.418
18	10546399	A	T	18	10546402	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon9:c.A583T:p.K195X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000542979:exon8:c.A337T:p.K113X;ENSG00000134265:ENST00000322897:exon9:c.A583T:p.K195X;	0.995865595616492	0.882
18	10546400	A	C	18	10546403	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.A584C:p.K195T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.A338C:p.K113T;ENSG00000134265:ENST00000322897:exon9:c.A584C:p.K195T;	0.999883970432335	1.0
18	10546400	A	G	18	10546403	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.A584G:p.K195R;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.A338G:p.K113R;ENSG00000134265:ENST00000322897:exon9:c.A584G:p.K195R;	0.996675441484365	0.954
18	10546400	A	T	18	10546403	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.A584T:p.K195M;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.A338T:p.K113M;ENSG00000134265:ENST00000322897:exon9:c.A584T:p.K195M;	0.999972274553092	1.0
18	10546401	G	A	18	10546404	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon9:c.G585A:p.K195K;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.G339A:p.K113K;ENSG00000134265:ENST00000322897:exon9:c.G585A:p.K195K;	0.99998647515617	0.998
18	10546401	G	C	18	10546404	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.G585C:p.K195N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.G339C:p.K113N;ENSG00000134265:ENST00000322897:exon9:c.G585C:p.K195N;	0.99999584645542	1.0
18	10546401	G	T	18	10546404	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon9:c.G585T:p.K195N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon8:c.G339T:p.K113N;ENSG00000134265:ENST00000322897:exon9:c.G585T:p.K195N;	0.999988543238541	1.0
18	10546402	G	A	18	10546405	y	y	splicing	NAPG(NM_003826:exon9:c.585+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.383+1G>A;ENST00000542979:exon8:c.339+1G>A;ENST00000580224:exon8:c.517+1G>A;ENST00000322897:exon9:c.585+1G>A)	.	.	0.999979422316293	0.944
18	10546402	G	C	18	10546405	y	y	splicing	NAPG(NM_003826:exon9:c.585+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.383+1G>C;ENST00000542979:exon8:c.339+1G>C;ENST00000580224:exon8:c.517+1G>C;ENST00000322897:exon9:c.585+1G>C)	.	.	0.999979422316293	0.944
18	10546402	G	T	18	10546405	y	y	splicing	NAPG(NM_003826:exon9:c.585+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.383+1G>T;ENST00000542979:exon8:c.339+1G>T;ENST00000580224:exon8:c.517+1G>T;ENST00000322897:exon9:c.585+1G>T)	.	.	0.999979422316293	0.944
18	10546403	T	A	18	10546406	y	y	splicing	NAPG(NM_003826:exon9:c.585+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.383+2T>A;ENST00000542979:exon8:c.339+2T>A;ENST00000580224:exon8:c.517+2T>A;ENST00000322897:exon9:c.585+2T>A)	.	.	0.999988624979899	0.944
18	10546403	T	C	18	10546406	y	y	splicing	NAPG(NM_003826:exon9:c.585+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.383+2T>C;ENST00000542979:exon8:c.339+2T>C;ENST00000580224:exon8:c.517+2T>C;ENST00000322897:exon9:c.585+2T>C)	.	.	0.991129914196296	0.636
18	10546403	T	G	18	10546406	y	y	splicing	NAPG(NM_003826:exon9:c.585+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon5:c.383+2T>G;ENST00000542979:exon8:c.339+2T>G;ENST00000580224:exon8:c.517+2T>G;ENST00000322897:exon9:c.585+2T>G)	.	.	0.999988624979899	0.944
18	10546404	A	C	18	10546407	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999920881390005	0.988
18	10546404	A	G	18	10546407	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999831667852082	0.984
18	10546404	A	T	18	10546407	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999920881390005	0.97
18	10546405	T	A	18	10546408	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.31997969280772E-4	0.056
18	10546405	T	C	18	10546408	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0013301385714625	0.278
18	10546405	T	G	18	10546408	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	8.20203430930131E-4	0.086
18	10546406	T	A	18	10546409	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.83581198814827E-4	0.03
18	10546406	T	C	18	10546409	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.64748669006812E-4	0.084
18	10546406	T	G	18	10546409	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.38968863846475E-4	0.046
18	10546407	C	A	18	10546410	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.07931462201636E-4	0.04
18	10546407	C	G	18	10546410	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.3951686285334E-5	0.012
18	10546407	C	T	18	10546410	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.52598131263412E-5	0.028
18	10546408	T	A	18	10546411	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00424199539791117	0.03
18	10546408	T	C	18	10546411	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00424199539791117	0.038
18	10546408	T	G	18	10546411	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00424199539791117	0.036
18	10546409	T	A	18	10546412	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0024472206802209	0.024
18	10546409	T	C	18	10546412	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00219645599808239	0.088
18	10546409	T	G	18	10546412	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00155290197981161	0.036
18	10548284	C	A	18	10548287	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.89077565036097E-4	0.004
18	10548284	C	G	18	10548287	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.19705807381659E-4	0.026
18	10548284	C	T	18	10548287	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.47723443906307E-5	0.002
18	10548285	T	A	18	10548288	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00515933218637519	0.274
18	10548285	T	C	18	10548288	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00187161887352815	0.112
18	10548285	T	G	18	10548288	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00371950450542946	0.288
18	10548286	T	A	18	10548289	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00140716441033685	0.086
18	10548286	T	C	18	10548289	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.54393204060302E-4	0.0
18	10548286	T	G	18	10548289	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.91615897897128E-4	0.098
18	10548287	T	A	18	10548290	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00171248065584266	0.118
18	10548287	T	C	18	10548290	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.04356762847628E-4	0.0
18	10548287	T	G	18	10548290	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.7510637555075E-4	0.146
18	10548288	T	A	18	10548291	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.988866117174972	0.98
18	10548288	T	C	18	10548291	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.46137549693079E-5	0.0
18	10548288	T	G	18	10548291	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.62201800020557E-5	0.024
18	10548289	G	A	18	10548292	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.59634163065102E-5	0.0
18	10548289	G	C	18	10548292	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.72753420495855E-5	0.012
18	10548289	G	T	18	10548292	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.69141471468489E-5	0.014
18	10548290	T	A	18	10548293	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0566401295633337	0.334
18	10548290	T	C	18	10548293	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00304245018713211	0.132
18	10548290	T	G	18	10548293	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.043465957398895	0.344
18	10548291	T	A	18	10548294	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0145357724461106	0.348
18	10548291	T	C	18	10548294	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00383132841990763	0.078
18	10548291	T	G	18	10548294	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.194319123042011	0.392
18	10548292	T	A	18	10548295	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.79766993125432E-5	0.024
18	10548292	T	C	18	10548295	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.02915897273482E-5	0.0
18	10548292	T	G	18	10548295	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	8.58183613877026E-5	0.02
18	10548293	T	A	18	10548296	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00734512022156666	0.086
18	10548293	T	C	18	10548296	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.95834695718811E-5	0.004
18	10548293	T	G	18	10548296	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.839599023747528	0.614
18	10548294	A	C	18	10548297	y	y	splicing	NAPG(NM_003826:exon10:c.586-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.384-2A>C;ENST00000542979:exon9:c.340-2A>C;ENST00000580224:exon9:c.518-2A>C;ENST00000322897:exon10:c.586-2A>C)	.	.	0.999988247793601	0.926
18	10548294	A	G	18	10548297	y	y	splicing	NAPG(NM_003826:exon10:c.586-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.384-2A>G;ENST00000542979:exon9:c.340-2A>G;ENST00000580224:exon9:c.518-2A>G;ENST00000322897:exon10:c.586-2A>G)	.	.	0.999988247793601	0.926
18	10548294	A	T	18	10548297	y	y	splicing	NAPG(NM_003826:exon10:c.586-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.384-2A>T;ENST00000542979:exon9:c.340-2A>T;ENST00000580224:exon9:c.518-2A>T;ENST00000322897:exon10:c.586-2A>T)	.	.	0.999988247793601	0.914
18	10548295	G	A	18	10548298	y	y	splicing	NAPG(NM_003826:exon10:c.586-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.384-1G>A;ENST00000542979:exon9:c.340-1G>A;ENST00000580224:exon9:c.518-1G>A;ENST00000322897:exon10:c.586-1G>A)	.	.	0.999990361384395	0.938
18	10548295	G	C	18	10548298	y	y	splicing	NAPG(NM_003826:exon10:c.586-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.384-1G>C;ENST00000542979:exon9:c.340-1G>C;ENST00000580224:exon9:c.518-1G>C;ENST00000322897:exon10:c.586-1G>C)	.	.	0.999990361384395	0.938
18	10548295	G	T	18	10548298	y	y	splicing	NAPG(NM_003826:exon10:c.586-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.384-1G>T;ENST00000542979:exon9:c.340-1G>T;ENST00000580224:exon9:c.518-1G>T;ENST00000322897:exon10:c.586-1G>T)	.	.	0.999990361384395	0.938
18	10548296	A	C	18	10548299	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.A586C:p.K196Q;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.A340C:p.K114Q;ENSG00000134265:ENST00000322897:exon10:c.A586C:p.K196Q;	0.66388440820119	0.726
18	10548296	A	G	18	10548299	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.A586G:p.K196E;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.A340G:p.K114E;ENSG00000134265:ENST00000322897:exon10:c.A586G:p.K196E;	0.693178353801399	0.734
18	10548296	A	T	18	10548299	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon10:c.A586T:p.K196X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000542979:exon9:c.A340T:p.K114X;ENSG00000134265:ENST00000322897:exon10:c.A586T:p.K196X;	0.654542917249453	0.666
18	10548297	A	C	18	10548300	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.A587C:p.K196T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.A341C:p.K114T;ENSG00000134265:ENST00000322897:exon10:c.A587C:p.K196T;	0.91088994999646	0.78
18	10548297	A	G	18	10548300	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.A587G:p.K196R;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.A341G:p.K114R;ENSG00000134265:ENST00000322897:exon10:c.A587G:p.K196R;	0.00562747324469287	0.048
18	10548297	A	T	18	10548300	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.A587T:p.K196I;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.A341T:p.K114I;ENSG00000134265:ENST00000322897:exon10:c.A587T:p.K196I;	0.912113728420781	0.82
18	10548373	T	A	18	10548376	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon10:c.T663A:p.Y221X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000542979:exon9:c.T417A:p.Y139X;ENSG00000134265:ENST00000322897:exon10:c.T663A:p.Y221X;	0.00260590453012346	0.322
18	10548373	T	C	18	10548376	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon10:c.T663C:p.Y221Y;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.T417C:p.Y139Y;ENSG00000134265:ENST00000322897:exon10:c.T663C:p.Y221Y;	1.10357271305811E-4	0.028
18	10548373	T	G	18	10548376	y	y	exonic	NAPG	stopgain SNV	NAPG:NM_003826:exon10:c.T663G:p.Y221X;	exonic	ENSG00000134265	stopgain SNV	ENSG00000134265:ENST00000542979:exon9:c.T417G:p.Y139X;ENSG00000134265:ENST00000322897:exon10:c.T663G:p.Y221X;	0.00411937323306745	0.306
18	10548374	A	C	18	10548377	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.A664C:p.S222R;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.A418C:p.S140R;ENSG00000134265:ENST00000322897:exon10:c.A664C:p.S222R;	0.984222850624376	0.908
18	10548374	A	G	18	10548377	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.A664G:p.S222G;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.A418G:p.S140G;ENSG00000134265:ENST00000322897:exon10:c.A664G:p.S222G;	0.974057172618336	0.92
18	10548374	A	T	18	10548377	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.A664T:p.S222C;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.A418T:p.S140C;ENSG00000134265:ENST00000322897:exon10:c.A664T:p.S222C;	0.991365629437723	0.8
18	10548375	G	A	18	10548378	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.G665A:p.S222N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.G419A:p.S140N;ENSG00000134265:ENST00000322897:exon10:c.G665A:p.S222N;	0.99993868028637	0.992
18	10548375	G	C	18	10548378	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.G665C:p.S222T;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.G419C:p.S140T;ENSG00000134265:ENST00000322897:exon10:c.G665C:p.S222T;	0.999988349534141	0.978
18	10548375	G	T	18	10548378	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon10:c.G665T:p.S222I;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon9:c.G419T:p.S140I;ENSG00000134265:ENST00000322897:exon10:c.G665T:p.S222I;	0.999947376434047	0.966
18	10548376	G	A	18	10548379	y	y	splicing	NAPG(NM_003826:exon10:c.665+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.463+1G>A;ENST00000542979:exon9:c.419+1G>A;ENST00000580224:exon9:c.597+1G>A;ENST00000322897:exon10:c.665+1G>A)	.	.	0.999990361384395	0.938
18	10548376	G	C	18	10548379	y	y	splicing	NAPG(NM_003826:exon10:c.665+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.463+1G>C;ENST00000542979:exon9:c.419+1G>C;ENST00000580224:exon9:c.597+1G>C;ENST00000322897:exon10:c.665+1G>C)	.	.	0.999990361384395	0.938
18	10548376	G	T	18	10548379	y	y	splicing	NAPG(NM_003826:exon10:c.665+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.463+1G>T;ENST00000542979:exon9:c.419+1G>T;ENST00000580224:exon9:c.597+1G>T;ENST00000322897:exon10:c.665+1G>T)	.	.	0.999990361384395	0.938
18	10548377	T	A	18	10548380	y	y	splicing	NAPG(NM_003826:exon10:c.665+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.463+2T>A;ENST00000542979:exon9:c.419+2T>A;ENST00000580224:exon9:c.597+2T>A;ENST00000322897:exon10:c.665+2T>A)	.	.	0.999988247793601	0.93
18	10548377	T	C	18	10548380	y	y	splicing	NAPG(NM_003826:exon10:c.665+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.463+2T>C;ENST00000542979:exon9:c.419+2T>C;ENST00000580224:exon9:c.597+2T>C;ENST00000322897:exon10:c.665+2T>C)	.	.	0.997446299437474	0.726
18	10548377	T	G	18	10548380	y	y	splicing	NAPG(NM_003826:exon10:c.665+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon6:c.463+2T>G;ENST00000542979:exon9:c.419+2T>G;ENST00000580224:exon9:c.597+2T>G;ENST00000322897:exon10:c.665+2T>G)	.	.	0.999988247793601	0.93
18	10548378	A	C	18	10548381	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.989858720305826	0.84
18	10548378	A	G	18	10548381	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.024872303783559	0.314
18	10548378	A	T	18	10548381	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.995269568927066	0.81
18	10548379	A	C	18	10548382	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.481470425383466	0.246
18	10548379	A	G	18	10548382	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.491020939883153	0.348
18	10548379	A	T	18	10548382	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.469867118649114	0.24
18	10548380	G	A	18	10548383	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.992877259804846	0.816
18	10548380	G	C	18	10548383	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.957815243303051	0.814
18	10548380	G	T	18	10548383	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.963431442007718	0.688
18	10548381	A	C	18	10548384	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.17664722768754E-5	0.014
18	10548381	A	G	18	10548384	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.13287806358909E-5	0.002
18	10548381	A	T	18	10548384	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.24357514375054E-5	0.004
18	10548382	C	A	18	10548385	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.20279124519223E-5	0.002
18	10548382	C	G	18	10548385	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.67828156258769E-5	0.002
18	10548382	C	T	18	10548385	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.20764363238924E-4	0.004
18	10548383	G	A	18	10548386	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.46004206284423E-5	0.0
18	10548383	G	C	18	10548386	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.3519283322177E-6	0.0
18	10548383	G	T	18	10548386	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.46004206284423E-5	0.0
18	10548952	T	A	18	10548955	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999959539798442	0.982
18	10548952	T	C	18	10548955	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0186974090707456	0.166
18	10548952	T	G	18	10548955	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.896274679133691	0.802
18	10548953	G	A	18	10548956	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00144288711517798	0.154
18	10548953	G	C	18	10548956	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.87472937289673E-4	0.002
18	10548953	G	T	18	10548956	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.62392777671493E-4	0.02
18	10548954	C	A	18	10548957	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.48532425178819E-4	0.05
18	10548954	C	G	18	10548957	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00162771515988134	0.034
18	10548954	C	T	18	10548957	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.22142515624211E-4	0.032
18	10548955	T	A	18	10548958	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.669576631468029	0.746
18	10548955	T	C	18	10548958	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00126022217443858	0.094
18	10548955	T	G	18	10548958	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.21524221220681	0.622
18	10548956	T	A	18	10548959	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.14738330308311E-4	0.136
18	10548956	T	C	18	10548959	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.27256868138958E-5	0.004
18	10548956	T	G	18	10548959	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.78963748109998E-4	0.108
18	10548957	A	C	18	10548960	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.05612906766044E-5	0.002
18	10548957	A	G	18	10548960	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.5607328762682E-4	0.0
18	10548957	A	T	18	10548960	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.5771517045833E-5	0.002
18	10548958	C	A	18	10548961	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0015898811680406	0.316
18	10548958	C	G	18	10548961	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999874695773067	0.946
18	10548958	C	T	18	10548961	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.14510010679577E-4	0.022
18	10548959	T	A	18	10548962	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999933082200385	0.866
18	10548959	T	C	18	10548962	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00168032034569225	0.16
18	10548959	T	G	18	10548962	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.855190955072072	0.364
18	10548960	G	A	18	10548963	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.18259764180721E-4	0.044
18	10548960	G	C	18	10548963	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.72394894183713E-4	0.036
18	10548960	G	T	18	10548963	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.85040571931524E-4	0.038
18	10548961	C	A	18	10548964	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.501274482964178	0.45
18	10548961	C	G	18	10548964	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.99795292504207	0.764
18	10548961	C	T	18	10548964	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.37220579989815E-4	0.112
18	10548962	A	C	18	10548965	y	y	splicing	NAPG(NM_003826:exon11:c.666-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.464-2A>C;ENST00000542979:exon10:c.420-2A>C;ENST00000580224:exon10:c.598-2A>C;ENST00000322897:exon11:c.666-2A>C)	.	.	0.99994568797423	0.962
18	10548962	A	G	18	10548965	y	y	splicing	NAPG(NM_003826:exon11:c.666-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.464-2A>G;ENST00000542979:exon10:c.420-2A>G;ENST00000580224:exon10:c.598-2A>G;ENST00000322897:exon11:c.666-2A>G)	.	.	0.99994568797423	0.966
18	10548962	A	T	18	10548965	y	y	splicing	NAPG(NM_003826:exon11:c.666-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.464-2A>T;ENST00000542979:exon10:c.420-2A>T;ENST00000580224:exon10:c.598-2A>T;ENST00000322897:exon11:c.666-2A>T)	.	.	0.99994568797423	0.962
18	10548963	G	A	18	10548966	y	y	splicing	NAPG(NM_003826:exon11:c.666-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.464-1G>A;ENST00000542979:exon10:c.420-1G>A;ENST00000580224:exon10:c.598-1G>A;ENST00000322897:exon11:c.666-1G>A)	.	.	0.99993314117114	0.944
18	10548963	G	C	18	10548966	y	y	splicing	NAPG(NM_003826:exon11:c.666-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.464-1G>C;ENST00000542979:exon10:c.420-1G>C;ENST00000580224:exon10:c.598-1G>C;ENST00000322897:exon11:c.666-1G>C)	.	.	0.99993314117114	0.944
18	10548963	G	T	18	10548966	y	y	splicing	NAPG(NM_003826:exon11:c.666-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.464-1G>T;ENST00000542979:exon10:c.420-1G>T;ENST00000580224:exon10:c.598-1G>T;ENST00000322897:exon11:c.666-1G>T)	.	.	0.99993314117114	0.942
18	10548964	C	A	18	10548967	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.C666A:p.S222R;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.C420A:p.S140R;ENSG00000134265:ENST00000322897:exon11:c.C666A:p.S222R;	1.43432161616754E-4	0.036
18	10548964	C	G	18	10548967	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.C666G:p.S222R;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.C420G:p.S140R;ENSG00000134265:ENST00000322897:exon11:c.C666G:p.S222R;	2.88894445626775E-4	0.078
18	10548964	C	T	18	10548967	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon11:c.C666T:p.S222S;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.C420T:p.S140S;ENSG00000134265:ENST00000322897:exon11:c.C666T:p.S222S;	0.00326531381966402	0.23
18	10548965	A	C	18	10548968	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.A667C:p.I223L;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.A421C:p.I141L;ENSG00000134265:ENST00000322897:exon11:c.A667C:p.I223L;	0.00121716300705692	0.042
18	10548965	A	G	18	10548968	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.A667G:p.I223V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.A421G:p.I141V;ENSG00000134265:ENST00000322897:exon11:c.A667G:p.I223V;	0.00334449007625342	0.02
18	10548965	A	T	18	10548968	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.A667T:p.I223F;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.A421T:p.I141F;ENSG00000134265:ENST00000322897:exon11:c.A667T:p.I223F;	0.00206180685582535	0.024
18	10549091	G	A	18	10549094	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.G793A:p.D265N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.G547A:p.D183N;ENSG00000134265:ENST00000322897:exon11:c.G793A:p.D265N;	0.926741985190296	0.652
18	10549091	G	C	18	10549094	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.G793C:p.D265H;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.G547C:p.D183H;ENSG00000134265:ENST00000322897:exon11:c.G793C:p.D265H;	0.9420140856593	0.716
18	10549091	G	T	18	10549094	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.G793T:p.D265Y;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.G547T:p.D183Y;ENSG00000134265:ENST00000322897:exon11:c.G793T:p.D265Y;	0.960204137469757	0.774
18	10549092	A	C	18	10549095	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.A794C:p.D265A;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.A548C:p.D183A;ENSG00000134265:ENST00000322897:exon11:c.A794C:p.D265A;	0.996696922096638	0.956
18	10549092	A	G	18	10549095	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.A794G:p.D265G;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.A548G:p.D183G;ENSG00000134265:ENST00000322897:exon11:c.A794G:p.D265G;	0.994355863014056	0.928
18	10549092	A	T	18	10549095	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.A794T:p.D265V;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.A548T:p.D183V;ENSG00000134265:ENST00000322897:exon11:c.A794T:p.D265V;	0.997206523697583	0.916
18	10549093	T	A	18	10549096	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.T795A:p.D265E;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.T549A:p.D183E;ENSG00000134265:ENST00000322897:exon11:c.T795A:p.D265E;	3.54212970380252E-5	0.048
18	10549093	T	C	18	10549096	y	y	exonic	NAPG	synonymous SNV	NAPG:NM_003826:exon11:c.T795C:p.D265D;	exonic	ENSG00000134265	synonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.T549C:p.D183D;ENSG00000134265:ENST00000322897:exon11:c.T795C:p.D265D;	3.42521413917037E-5	0.004
18	10549093	T	G	18	10549096	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon11:c.T795G:p.D265E;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon10:c.T549G:p.D183E;ENSG00000134265:ENST00000322897:exon11:c.T795G:p.D265E;	3.94192427484719E-5	0.03
18	10549094	G	A	18	10549097	y	y	splicing	NAPG(NM_003826:exon11:c.795+1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.593+1G>A;ENST00000542979:exon10:c.549+1G>A;ENST00000580224:exon10:c.727+1G>A;ENST00000322897:exon11:c.795+1G>A)	.	.	0.999985532734767	0.936
18	10549094	G	C	18	10549097	y	y	splicing	NAPG(NM_003826:exon11:c.795+1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.593+1G>C;ENST00000542979:exon10:c.549+1G>C;ENST00000580224:exon10:c.727+1G>C;ENST00000322897:exon11:c.795+1G>C)	.	.	0.999985532734767	0.936
18	10549094	G	T	18	10549097	y	y	splicing	NAPG(NM_003826:exon11:c.795+1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.593+1G>T;ENST00000542979:exon10:c.549+1G>T;ENST00000580224:exon10:c.727+1G>T;ENST00000322897:exon11:c.795+1G>T)	.	.	0.999985532734767	0.936
18	10549095	T	A	18	10549098	y	y	splicing	NAPG(NM_003826:exon11:c.795+2T>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.593+2T>A;ENST00000542979:exon10:c.549+2T>A;ENST00000580224:exon10:c.727+2T>A;ENST00000322897:exon11:c.795+2T>A)	.	.	0.999988247793601	0.928
18	10549095	T	C	18	10549098	y	y	splicing	NAPG(NM_003826:exon11:c.795+2T>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.593+2T>C;ENST00000542979:exon10:c.549+2T>C;ENST00000580224:exon10:c.727+2T>C;ENST00000322897:exon11:c.795+2T>C)	.	.	0.992783534660112	0.624
18	10549095	T	G	18	10549098	y	y	splicing	NAPG(NM_003826:exon11:c.795+2T>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon7:c.593+2T>G;ENST00000542979:exon10:c.549+2T>G;ENST00000580224:exon10:c.727+2T>G;ENST00000322897:exon11:c.795+2T>G)	.	.	0.999988247793601	0.928
18	10549096	A	C	18	10549099	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.975253670228511	0.57
18	10549096	A	G	18	10549099	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.0071016303393E-4	0.016
18	10549096	A	T	18	10549099	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.967040631446595	0.48
18	10549097	A	C	18	10549100	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.994441903533974	0.872
18	10549097	A	G	18	10549100	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.998733104476354	0.93
18	10549097	A	T	18	10549100	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.995937092056968	0.87
18	10549098	G	A	18	10549101	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999917996430071	0.962
18	10549098	G	C	18	10549101	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.998324085104503	0.948
18	10549098	G	T	18	10549101	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999966160629746	0.964
18	10549099	T	A	18	10549102	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.866575105073143	0.676
18	10549099	T	C	18	10549102	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.269565836617267	0.578
18	10549099	T	G	18	10549102	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.491552579945837	0.524
18	10549100	G	A	18	10549103	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.13453486216306E-4	0.0
18	10549100	G	C	18	10549103	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	5.66239392785878E-5	0.0
18	10549100	G	T	18	10549103	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	6.6888051343952E-5	0.0
18	10549101	G	A	18	10549104	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.24667923489979E-5	0.002
18	10549101	G	C	18	10549104	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.81065643709588E-5	0.002
18	10549101	G	T	18	10549104	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.81065643709588E-5	0.002
18	10550062	T	A	18	10550065	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999826733303584	0.962
18	10550062	T	C	18	10550065	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	4.09452883965506E-4	0.06
18	10550062	T	G	18	10550065	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.106168332070022	0.442
18	10550063	G	A	18	10550066	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	3.45873580159968E-4	0.02
18	10550063	G	C	18	10550066	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.76726488535292E-5	0.0
18	10550063	G	T	18	10550066	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.76726488535292E-5	0.032
18	10550064	T	A	18	10550067	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.130366829934404	0.522
18	10550064	T	C	18	10550067	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00130323719520478	0.042
18	10550064	T	G	18	10550067	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0849559999209751	0.508
18	10550065	T	A	18	10550068	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999453217236515	0.95
18	10550065	T	C	18	10550068	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.81750330029899E-5	0.01
18	10550065	T	G	18	10550068	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0017154756053508	0.146
18	10550066	G	A	18	10550069	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	7.36378448613991E-5	0.03
18	10550066	G	C	18	10550069	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.27219349862041E-5	0.0
18	10550066	G	T	18	10550069	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	1.27219349862041E-5	0.0
18	10550067	T	A	18	10550070	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.434178325334984	0.502
18	10550067	T	C	18	10550070	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.19660864311234E-5	0.072
18	10550067	T	G	18	10550070	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.0245051810466338	0.36
18	10550068	T	A	18	10550071	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.99992711650735	0.966
18	10550068	T	C	18	10550071	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00614626858849403	0.076
18	10550068	T	G	18	10550071	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.949714380295276	0.7
18	10550069	G	A	18	10550072	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00193618713685459	0.092
18	10550069	G	C	18	10550072	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00177864140066561	0.066
18	10550069	G	T	18	10550072	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.00177864140066561	0.066
18	10550070	A	C	18	10550073	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.15891898029703E-4	0.024
18	10550070	A	G	18	10550073	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	2.64583570377671E-4	0.046
18	10550070	A	T	18	10550073	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	9.5486783338727E-4	0.054
18	10550071	C	A	18	10550074	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999724331292122	0.926
18	10550071	C	G	18	10550074	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.999907099719176	0.942
18	10550071	C	T	18	10550074	y	y	intronic	NAPG	.	.	intronic	ENSG00000134265	.	.	0.9886889939958	0.304
18	10550072	A	C	18	10550075	y	y	splicing	NAPG(NM_003826:exon12:c.796-2A>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon8:c.594-2A>C;ENST00000542979:exon11:c.550-2A>C;ENST00000580224:exon11:c.728-2A>C;ENST00000322897:exon12:c.796-2A>C)	.	.	0.999979394981131	0.918
18	10550072	A	G	18	10550075	y	y	splicing	NAPG(NM_003826:exon12:c.796-2A>G)	.	.	splicing	ENSG00000134265(ENST00000580483:exon8:c.594-2A>G;ENST00000542979:exon11:c.550-2A>G;ENST00000580224:exon11:c.728-2A>G;ENST00000322897:exon12:c.796-2A>G)	.	.	0.999979394981131	0.918
18	10550072	A	T	18	10550075	y	y	splicing	NAPG(NM_003826:exon12:c.796-2A>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon8:c.594-2A>T;ENST00000542979:exon11:c.550-2A>T;ENST00000580224:exon11:c.728-2A>T;ENST00000322897:exon12:c.796-2A>T)	.	.	0.999979394981131	0.918
18	10550073	G	A	18	10550076	y	y	splicing	NAPG(NM_003826:exon12:c.796-1G>A)	.	.	splicing	ENSG00000134265(ENST00000580483:exon8:c.594-1G>A;ENST00000542979:exon11:c.550-1G>A;ENST00000580224:exon11:c.728-1G>A;ENST00000322897:exon12:c.796-1G>A)	.	.	0.999982627682474	0.914
18	10550073	G	C	18	10550076	y	y	splicing	NAPG(NM_003826:exon12:c.796-1G>C)	.	.	splicing	ENSG00000134265(ENST00000580483:exon8:c.594-1G>C;ENST00000542979:exon11:c.550-1G>C;ENST00000580224:exon11:c.728-1G>C;ENST00000322897:exon12:c.796-1G>C)	.	.	0.999982627682474	0.914
18	10550073	G	T	18	10550076	y	y	splicing	NAPG(NM_003826:exon12:c.796-1G>T)	.	.	splicing	ENSG00000134265(ENST00000580483:exon8:c.594-1G>T;ENST00000542979:exon11:c.550-1G>T;ENST00000580224:exon11:c.728-1G>T;ENST00000322897:exon12:c.796-1G>T)	.	.	0.999982627682474	0.914
18	10550074	T	A	18	10550077	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon12:c.T796A:p.Y266N;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon11:c.T550A:p.Y184N;ENSG00000134265:ENST00000322897:exon12:c.T796A:p.Y266N;	0.756549704325676	0.744
18	10550074	T	C	18	10550077	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon12:c.T796C:p.Y266H;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon11:c.T550C:p.Y184H;ENSG00000134265:ENST00000322897:exon12:c.T796C:p.Y266H;	0.827796423816945	0.726
18	10550074	T	G	18	10550077	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon12:c.T796G:p.Y266D;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon11:c.T550G:p.Y184D;ENSG00000134265:ENST00000322897:exon12:c.T796G:p.Y266D;	0.830759290342234	0.686
18	10550075	A	C	18	10550078	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon12:c.A797C:p.Y266S;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon11:c.A551C:p.Y184S;ENSG00000134265:ENST00000322897:exon12:c.A797C:p.Y266S;	0.924388933590004	0.872
18	10550075	A	G	18	10550078	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon12:c.A797G:p.Y266C;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon11:c.A551G:p.Y184C;ENSG00000134265:ENST00000322897:exon12:c.A797G:p.Y266C;	0.932926666643446	0.752
18	10550075	A	T	18	10550078	y	y	exonic	NAPG	nonsynonymous SNV	NAPG:NM_003826:exon12:c.A797T:p.Y266F;	exonic	ENSG00000134265	nonsynonymous SNV	ENSG00000134265:ENST00000542979:exon11:c.A551T:p.Y184F;ENSG00000134265:ENST00000322897:exon12:c.A797T:p.Y266F;	0.890138871173555	0.818
18	10671775	T	A	18	10671778	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon52:c.A8008T:p.I2670F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon54:c.A8083T:p.I2695F;ENSG00000154864:ENST00000285141:exon13:c.A1384T:p.I462F;ENSG00000154864:ENST00000503781:exon52:c.A8008T:p.I2670F;ENSG00000154864:ENST00000538948:exon14:c.A1879T:p.I627F;ENSG00000154864:ENST00000302079:exon51:c.A7819T:p.I2607F;	0.628122292185961	0.696
18	10671775	T	C	18	10671778	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon52:c.A8008G:p.I2670V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon54:c.A8083G:p.I2695V;ENSG00000154864:ENST00000285141:exon13:c.A1384G:p.I462V;ENSG00000154864:ENST00000503781:exon52:c.A8008G:p.I2670V;ENSG00000154864:ENST00000538948:exon14:c.A1879G:p.I627V;ENSG00000154864:ENST00000302079:exon51:c.A7819G:p.I2607V;	0.838153287623638	0.704
18	10671775	T	G	18	10671778	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon52:c.A8008C:p.I2670L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon54:c.A8083C:p.I2695L;ENSG00000154864:ENST00000285141:exon13:c.A1384C:p.I462L;ENSG00000154864:ENST00000503781:exon52:c.A8008C:p.I2670L;ENSG00000154864:ENST00000538948:exon14:c.A1879C:p.I627L;ENSG00000154864:ENST00000302079:exon51:c.A7819C:p.I2607L;	0.814636077737654	0.796
18	10671776	A	C	18	10671779	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon52:c.T8007G:p.G2669G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon54:c.T8082G:p.G2694G;ENSG00000154864:ENST00000285141:exon13:c.T1383G:p.G461G;ENSG00000154864:ENST00000503781:exon52:c.T8007G:p.G2669G;ENSG00000154864:ENST00000538948:exon14:c.T1878G:p.G626G;ENSG00000154864:ENST00000302079:exon51:c.T7818G:p.G2606G;	2.03519474087103E-4	0.194
18	10671776	A	G	18	10671779	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon52:c.T8007C:p.G2669G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon54:c.T8082C:p.G2694G;ENSG00000154864:ENST00000285141:exon13:c.T1383C:p.G461G;ENSG00000154864:ENST00000503781:exon52:c.T8007C:p.G2669G;ENSG00000154864:ENST00000538948:exon14:c.T1878C:p.G626G;ENSG00000154864:ENST00000302079:exon51:c.T7818C:p.G2606G;	2.98446679852539E-5	0.0
18	10671776	A	T	18	10671779	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon52:c.T8007A:p.G2669G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon54:c.T8082A:p.G2694G;ENSG00000154864:ENST00000285141:exon13:c.T1383A:p.G461G;ENSG00000154864:ENST00000503781:exon52:c.T8007A:p.G2669G;ENSG00000154864:ENST00000538948:exon14:c.T1878A:p.G626G;ENSG00000154864:ENST00000302079:exon51:c.T7818A:p.G2606G;	6.64957068075547E-5	0.006
18	10671777	C	A	18	10671780	y	y	splicing	PIEZO2(NM_022068:exon53:c.8007-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon52:c.7818-1G>T;ENST00000285141:exon14:c.1383-1G>T;ENST00000538948:exon15:c.1878-1G>T;ENST00000582913:exon55:c.8213-1G>T;ENST00000503781:exon53:c.8007-1G>T;ENST00000580640:exon55:c.8082-1G>T)	.	.	0.999986675681007	0.91
18	10671777	C	G	18	10671780	y	y	splicing	PIEZO2(NM_022068:exon53:c.8007-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon52:c.7818-1G>C;ENST00000285141:exon14:c.1383-1G>C;ENST00000538948:exon15:c.1878-1G>C;ENST00000582913:exon55:c.8213-1G>C;ENST00000503781:exon53:c.8007-1G>C;ENST00000580640:exon55:c.8082-1G>C)	.	.	0.999986675681007	0.954
18	10671777	C	T	18	10671780	y	y	splicing	PIEZO2(NM_022068:exon53:c.8007-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon52:c.7818-1G>A;ENST00000285141:exon14:c.1383-1G>A;ENST00000538948:exon15:c.1878-1G>A;ENST00000582913:exon55:c.8213-1G>A;ENST00000503781:exon53:c.8007-1G>A;ENST00000580640:exon55:c.8082-1G>A)	.	.	0.999986675681007	0.954
18	10671778	T	A	18	10671781	y	y	splicing	PIEZO2(NM_022068:exon53:c.8007-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon52:c.7818-2A>T;ENST00000285141:exon14:c.1383-2A>T;ENST00000538948:exon15:c.1878-2A>T;ENST00000582913:exon55:c.8213-2A>T;ENST00000503781:exon53:c.8007-2A>T;ENST00000580640:exon55:c.8082-2A>T)	.	.	0.999989917668626	0.938
18	10671778	T	C	18	10671781	y	y	splicing	PIEZO2(NM_022068:exon53:c.8007-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon52:c.7818-2A>G;ENST00000285141:exon14:c.1383-2A>G;ENST00000538948:exon15:c.1878-2A>G;ENST00000582913:exon55:c.8213-2A>G;ENST00000503781:exon53:c.8007-2A>G;ENST00000580640:exon55:c.8082-2A>G)	.	.	0.999989917668626	0.938
18	10671778	T	G	18	10671781	y	y	splicing	PIEZO2(NM_022068:exon53:c.8007-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon52:c.7818-2A>C;ENST00000285141:exon14:c.1383-2A>C;ENST00000538948:exon15:c.1878-2A>C;ENST00000582913:exon55:c.8213-2A>C;ENST00000503781:exon53:c.8007-2A>C;ENST00000580640:exon55:c.8082-2A>C)	.	.	0.999989917668626	0.938
18	10671779	G	A	18	10671782	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.01157393930732	0.142
18	10671779	G	C	18	10671782	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999447375503036	0.894
18	10671779	G	T	18	10671782	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.774157541673718	0.604
18	10671780	A	C	18	10671783	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.476954656297E-4	0.002
18	10671780	A	G	18	10671783	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.56408456802216E-4	0.006
18	10671780	A	T	18	10671783	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.1513186280866E-4	0.002
18	10671781	A	C	18	10671784	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.648120026381836	0.324
18	10671781	A	G	18	10671784	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0017157746742422	0.08
18	10671781	A	T	18	10671784	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.184975990760199	0.24
18	10671782	A	C	18	10671785	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.745354592893431	0.456
18	10671782	A	G	18	10671785	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.34319079168008E-4	0.076
18	10671782	A	T	18	10671785	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.769838712903657	0.446
18	10671783	A	C	18	10671786	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00726747207682453	0.088
18	10671783	A	G	18	10671786	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.17764088682111E-4	0.048
18	10671783	A	T	18	10671786	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0160253526857568	0.08
18	10671784	A	C	18	10671787	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0116866803887281	0.224
18	10671784	A	G	18	10671787	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.18143140398204E-4	0.038
18	10671784	A	T	18	10671787	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0171633570413081	0.24
18	10671785	A	C	18	10671788	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00573394982384243	0.268
18	10671785	A	G	18	10671788	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.1921904076192E-5	0.024
18	10671785	A	T	18	10671788	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00900136037573203	0.262
18	10671786	A	C	18	10671789	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0272244100548549	0.232
18	10671786	A	G	18	10671789	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.39722517833135E-5	0.028
18	10671786	A	T	18	10671789	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0164439629783856	0.218
18	10671787	C	A	18	10671790	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.72039033322877E-5	0.006
18	10671787	C	G	18	10671790	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.01327654959449E-5	0.002
18	10671787	C	T	18	10671790	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.30247676425493E-4	0.016
18	10671788	A	C	18	10671791	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0468043662459613	0.284
18	10671788	A	G	18	10671791	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00258799892068794	0.12
18	10671788	A	T	18	10671791	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999930838513096	0.978
18	10672679	G	A	18	10672682	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.6699582993813E-4	0.0
18	10672679	G	C	18	10672682	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.54410946786808E-5	0.0
18	10672679	G	T	18	10672682	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.46912207696308E-4	0.004
18	10672680	T	A	18	10672683	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.25248505924395E-5	0.006
18	10672680	T	C	18	10672683	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.44053392659126E-4	0.002
18	10672680	T	G	18	10672683	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.25248505924395E-5	0.002
18	10672681	C	A	18	10672684	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.5616296829021E-5	0.002
18	10672681	C	G	18	10672684	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.69495366586607E-4	0.044
18	10672681	C	T	18	10672684	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.36347471533422E-4	0.014
18	10672682	C	A	18	10672685	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999864647457836	0.916
18	10672682	C	G	18	10672685	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999765811971265	0.996
18	10672682	C	T	18	10672685	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999750868803171	0.996
18	10672683	T	A	18	10672686	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997806386205444	0.932
18	10672683	T	C	18	10672686	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99891480790031	0.972
18	10672683	T	G	18	10672686	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99494038614985	0.916
18	10672684	T	A	18	10672687	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999907906384604	0.984
18	10672684	T	C	18	10672687	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995732523079015	0.736
18	10672684	T	G	18	10672687	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999879624615074	0.968
18	10672685	A	C	18	10672688	y	y	splicing	PIEZO2(NM_022068:exon52:c.8006+2T>G)	.	.	splicing	ENSG00000154864(ENST00000582937:exon2:c.58+2T>G;ENST00000302079:exon51:c.7817+2T>G;ENST00000285141:exon13:c.1382+2T>G;ENST00000538948:exon14:c.1877+2T>G;ENST00000582913:exon54:c.8212+2T>G;ENST00000503781:exon52:c.8006+2T>G;ENST00000580640:exon54:c.8081+2T>G)	.	.	0.999988247793601	0.93
18	10672685	A	G	18	10672688	y	y	splicing	PIEZO2(NM_022068:exon52:c.8006+2T>C)	.	.	splicing	ENSG00000154864(ENST00000582937:exon2:c.58+2T>C;ENST00000302079:exon51:c.7817+2T>C;ENST00000285141:exon13:c.1382+2T>C;ENST00000538948:exon14:c.1877+2T>C;ENST00000582913:exon54:c.8212+2T>C;ENST00000503781:exon52:c.8006+2T>C;ENST00000580640:exon54:c.8081+2T>C)	.	.	0.999934643991786	0.886
18	10672685	A	T	18	10672688	y	y	splicing	PIEZO2(NM_022068:exon52:c.8006+2T>A)	.	.	splicing	ENSG00000154864(ENST00000582937:exon2:c.58+2T>A;ENST00000302079:exon51:c.7817+2T>A;ENST00000285141:exon13:c.1382+2T>A;ENST00000538948:exon14:c.1877+2T>A;ENST00000582913:exon54:c.8212+2T>A;ENST00000503781:exon52:c.8006+2T>A;ENST00000580640:exon54:c.8081+2T>A)	.	.	0.999988247793601	0.93
18	10672686	C	A	18	10672689	y	y	splicing	PIEZO2(NM_022068:exon52:c.8006+1G>T)	.	.	splicing	ENSG00000154864(ENST00000582937:exon2:c.58+1G>T;ENST00000302079:exon51:c.7817+1G>T;ENST00000285141:exon13:c.1382+1G>T;ENST00000538948:exon14:c.1877+1G>T;ENST00000582913:exon54:c.8212+1G>T;ENST00000503781:exon52:c.8006+1G>T;ENST00000580640:exon54:c.8081+1G>T)	.	.	0.999990361384395	0.938
18	10672686	C	G	18	10672689	y	y	splicing	PIEZO2(NM_022068:exon52:c.8006+1G>C)	.	.	splicing	ENSG00000154864(ENST00000582937:exon2:c.58+1G>C;ENST00000302079:exon51:c.7817+1G>C;ENST00000285141:exon13:c.1382+1G>C;ENST00000538948:exon14:c.1877+1G>C;ENST00000582913:exon54:c.8212+1G>C;ENST00000503781:exon52:c.8006+1G>C;ENST00000580640:exon54:c.8081+1G>C)	.	.	0.999990361384395	0.938
18	10672686	C	T	18	10672689	y	y	splicing	PIEZO2(NM_022068:exon52:c.8006+1G>A)	.	.	splicing	ENSG00000154864(ENST00000582937:exon2:c.58+1G>A;ENST00000302079:exon51:c.7817+1G>A;ENST00000285141:exon13:c.1382+1G>A;ENST00000538948:exon14:c.1877+1G>A;ENST00000582913:exon54:c.8212+1G>A;ENST00000503781:exon52:c.8006+1G>A;ENST00000580640:exon54:c.8081+1G>A)	.	.	0.999990361384395	0.938
18	10672687	C	A	18	10672690	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.G8006T:p.G2669V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582937:exon1:c.G58T:p.A20S;ENSG00000154864:ENST00000580640:exon53:c.G8081T:p.G2694V;ENSG00000154864:ENST00000285141:exon12:c.G1382T:p.G461V;ENSG00000154864:ENST00000503781:exon51:c.G8006T:p.G2669V;ENSG00000154864:ENST00000538948:exon13:c.G1877T:p.G626V;ENSG00000154864:ENST00000302079:exon50:c.G7817T:p.G2606V;	0.999994415037265	1.0
18	10672687	C	G	18	10672690	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.G8006C:p.G2669A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582937:exon1:c.G58C:p.A20P;ENSG00000154864:ENST00000580640:exon53:c.G8081C:p.G2694A;ENSG00000154864:ENST00000285141:exon12:c.G1382C:p.G461A;ENSG00000154864:ENST00000503781:exon51:c.G8006C:p.G2669A;ENSG00000154864:ENST00000538948:exon13:c.G1877C:p.G626A;ENSG00000154864:ENST00000302079:exon50:c.G7817C:p.G2606A;	0.999998320609481	0.91
18	10672687	C	T	18	10672690	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.G8006A:p.G2669D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582937:exon1:c.G58A:p.A20T;ENSG00000154864:ENST00000580640:exon53:c.G8081A:p.G2694D;ENSG00000154864:ENST00000285141:exon12:c.G1382A:p.G461D;ENSG00000154864:ENST00000503781:exon51:c.G8006A:p.G2669D;ENSG00000154864:ENST00000538948:exon13:c.G1877A:p.G626D;ENSG00000154864:ENST00000302079:exon50:c.G7817A:p.G2606D;	0.999994868013052	1.0
18	10672688	C	A	18	10672691	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.G8005T:p.G2669C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582937:exon1:c.G57T:p.M19I;ENSG00000154864:ENST00000580640:exon53:c.G8080T:p.G2694C;ENSG00000154864:ENST00000285141:exon12:c.G1381T:p.G461C;ENSG00000154864:ENST00000503781:exon51:c.G8005T:p.G2669C;ENSG00000154864:ENST00000538948:exon13:c.G1876T:p.G626C;ENSG00000154864:ENST00000302079:exon50:c.G7816T:p.G2606C;	0.992774165523053	0.914
18	10672688	C	G	18	10672691	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.G8005C:p.G2669R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582937:exon1:c.G57C:p.M19I;ENSG00000154864:ENST00000580640:exon53:c.G8080C:p.G2694R;ENSG00000154864:ENST00000285141:exon12:c.G1381C:p.G461R;ENSG00000154864:ENST00000503781:exon51:c.G8005C:p.G2669R;ENSG00000154864:ENST00000538948:exon13:c.G1876C:p.G626R;ENSG00000154864:ENST00000302079:exon50:c.G7816C:p.G2606R;	0.988936492077312	0.914
18	10672688	C	T	18	10672691	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.G8005A:p.G2669S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582937:exon1:c.G57A:p.M19I;ENSG00000154864:ENST00000580640:exon53:c.G8080A:p.G2694S;ENSG00000154864:ENST00000285141:exon12:c.G1381A:p.G461S;ENSG00000154864:ENST00000503781:exon51:c.G8005A:p.G2669S;ENSG00000154864:ENST00000538948:exon13:c.G1876A:p.G626S;ENSG00000154864:ENST00000302079:exon50:c.G7816A:p.G2606S;	0.978380249305597	0.714
18	10672689	A	C	18	10672692	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon51:c.T8004G:p.Y2668X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon53:c.T8079G:p.Y2693X;ENSG00000154864:ENST00000285141:exon12:c.T1380G:p.Y460X;ENSG00000154864:ENST00000503781:exon51:c.T8004G:p.Y2668X;ENSG00000154864:ENST00000538948:exon13:c.T1875G:p.Y625X;ENSG00000154864:ENST00000302079:exon50:c.T7815G:p.Y2605X;	1.37685707639559E-4	0.352
18	10672689	A	G	18	10672692	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon51:c.T8004C:p.Y2668Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582937:exon1:c.T56C:p.M19T;	1.74282852142795E-5	0.08
18	10672689	A	T	18	10672692	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon51:c.T8004A:p.Y2668X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon53:c.T8079A:p.Y2693X;ENSG00000154864:ENST00000285141:exon12:c.T1380A:p.Y460X;ENSG00000154864:ENST00000503781:exon51:c.T8004A:p.Y2668X;ENSG00000154864:ENST00000538948:exon13:c.T1875A:p.Y625X;ENSG00000154864:ENST00000302079:exon50:c.T7815A:p.Y2605X;	3.14036557037723E-5	0.348
18	10672869	T	A	18	10672872	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.A7824T:p.E2608D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon53:c.A7899T:p.E2633D;ENSG00000154864:ENST00000285141:exon12:c.A1200T:p.E400D;ENSG00000154864:ENST00000503781:exon51:c.A7824T:p.E2608D;ENSG00000154864:ENST00000538948:exon13:c.A1695T:p.E565D;ENSG00000154864:ENST00000302079:exon50:c.A7635T:p.E2545D;	0.00336106083355555	0.028
18	10672869	T	C	18	10672872	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon51:c.A7824G:p.E2608E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon53:c.A7899G:p.E2633E;ENSG00000154864:ENST00000285141:exon12:c.A1200G:p.E400E;ENSG00000154864:ENST00000503781:exon51:c.A7824G:p.E2608E;ENSG00000154864:ENST00000538948:exon13:c.A1695G:p.E565E;ENSG00000154864:ENST00000302079:exon50:c.A7635G:p.E2545E;	0.0126826781901412	0.094
18	10672869	T	G	18	10672872	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.A7824C:p.E2608D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon53:c.A7899C:p.E2633D;ENSG00000154864:ENST00000285141:exon12:c.A1200C:p.E400D;ENSG00000154864:ENST00000503781:exon51:c.A7824C:p.E2608D;ENSG00000154864:ENST00000538948:exon13:c.A1695C:p.E565D;ENSG00000154864:ENST00000302079:exon50:c.A7635C:p.E2545D;	0.00413878495404289	0.062
18	10672870	T	A	18	10672873	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.A7823T:p.E2608V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon53:c.A7898T:p.E2633V;ENSG00000154864:ENST00000285141:exon12:c.A1199T:p.E400V;ENSG00000154864:ENST00000503781:exon51:c.A7823T:p.E2608V;ENSG00000154864:ENST00000538948:exon13:c.A1694T:p.E565V;ENSG00000154864:ENST00000302079:exon50:c.A7634T:p.E2545V;	0.859085641094285	0.616
18	10672870	T	C	18	10672873	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.A7823G:p.E2608G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon53:c.A7898G:p.E2633G;ENSG00000154864:ENST00000285141:exon12:c.A1199G:p.E400G;ENSG00000154864:ENST00000503781:exon51:c.A7823G:p.E2608G;ENSG00000154864:ENST00000538948:exon13:c.A1694G:p.E565G;ENSG00000154864:ENST00000302079:exon50:c.A7634G:p.E2545G;	0.0246606007657348	0.176
18	10672870	T	G	18	10672873	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon51:c.A7823C:p.E2608A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon53:c.A7898C:p.E2633A;ENSG00000154864:ENST00000285141:exon12:c.A1199C:p.E400A;ENSG00000154864:ENST00000503781:exon51:c.A7823C:p.E2608A;ENSG00000154864:ENST00000538948:exon13:c.A1694C:p.E565A;ENSG00000154864:ENST00000302079:exon50:c.A7634C:p.E2545A;	0.140596177691322	0.304
18	10672871	C	A	18	10672874	y	y	splicing	PIEZO2(NM_022068:exon52:c.7823-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon51:c.7634-1G>T;ENST00000285141:exon13:c.1199-1G>T;ENST00000538948:exon14:c.1694-1G>T;ENST00000582913:exon54:c.8029-1G>T;ENST00000503781:exon52:c.7823-1G>T;ENST00000580640:exon54:c.7898-1G>T)	.	.	0.999980524662349	0.94
18	10672871	C	G	18	10672874	y	y	splicing	PIEZO2(NM_022068:exon52:c.7823-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon51:c.7634-1G>C;ENST00000285141:exon13:c.1199-1G>C;ENST00000538948:exon14:c.1694-1G>C;ENST00000582913:exon54:c.8029-1G>C;ENST00000503781:exon52:c.7823-1G>C;ENST00000580640:exon54:c.7898-1G>C)	.	.	0.999980524662349	0.94
18	10672871	C	T	18	10672874	y	y	splicing	PIEZO2(NM_022068:exon52:c.7823-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon51:c.7634-1G>A;ENST00000285141:exon13:c.1199-1G>A;ENST00000538948:exon14:c.1694-1G>A;ENST00000582913:exon54:c.8029-1G>A;ENST00000503781:exon52:c.7823-1G>A;ENST00000580640:exon54:c.7898-1G>A)	.	.	0.999989125585301	0.942
18	10672872	T	A	18	10672875	y	y	splicing	PIEZO2(NM_022068:exon52:c.7823-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon51:c.7634-2A>T;ENST00000285141:exon13:c.1199-2A>T;ENST00000538948:exon14:c.1694-2A>T;ENST00000582913:exon54:c.8029-2A>T;ENST00000503781:exon52:c.7823-2A>T;ENST00000580640:exon54:c.7898-2A>T)	.	.	0.99993872479901	0.954
18	10672872	T	C	18	10672875	y	y	splicing	PIEZO2(NM_022068:exon52:c.7823-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon51:c.7634-2A>G;ENST00000285141:exon13:c.1199-2A>G;ENST00000538948:exon14:c.1694-2A>G;ENST00000582913:exon54:c.8029-2A>G;ENST00000503781:exon52:c.7823-2A>G;ENST00000580640:exon54:c.7898-2A>G)	.	.	0.99993928974862	0.958
18	10672872	T	G	18	10672875	y	y	splicing	PIEZO2(NM_022068:exon52:c.7823-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon51:c.7634-2A>C;ENST00000285141:exon13:c.1199-2A>C;ENST00000538948:exon14:c.1694-2A>C;ENST00000582913:exon54:c.8029-2A>C;ENST00000503781:exon52:c.7823-2A>C;ENST00000580640:exon54:c.7898-2A>C)	.	.	0.99993928974862	0.958
18	10672873	A	C	18	10672876	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.584225000706567	0.6
18	10672873	A	G	18	10672876	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.32653019268145E-5	0.006
18	10672873	A	T	18	10672876	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00644842373433742	0.242
18	10672874	G	A	18	10672877	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.46734373215969E-5	0.002
18	10672874	G	C	18	10672877	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.13277896163929E-4	0.01
18	10672874	G	T	18	10672877	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.32578284580413E-5	0.004
18	10672875	A	C	18	10672878	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00382584915833217	0.346
18	10672875	A	G	18	10672878	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.35533469886365E-4	0.082
18	10672875	A	T	18	10672878	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00324740649021064	0.324
18	10672876	A	C	18	10672879	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00303780712392596	0.114
18	10672876	A	G	18	10672879	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.66830406537591E-4	0.036
18	10672876	A	T	18	10672879	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.27439239987474E-4	0.094
18	10672877	G	A	18	10672880	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.05310166885357E-5	0.0
18	10672877	G	C	18	10672880	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00129687476432971	0.088
18	10672877	G	T	18	10672880	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00147377937908887	0.056
18	10672878	G	A	18	10672881	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.16083924489772E-4	0.004
18	10672878	G	C	18	10672881	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.32333804662335E-4	0.084
18	10672878	G	T	18	10672881	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.74326402724609E-4	0.102
18	10672879	G	A	18	10672882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.22324660413101E-5	0.004
18	10672879	G	C	18	10672882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999614534495188	0.904
18	10672879	G	T	18	10672882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.9805436569111E-4	0.108
18	10672880	T	A	18	10672883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.57227471391652E-5	0.008
18	10672880	T	C	18	10672883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.40568225135271E-4	0.058
18	10672880	T	G	18	10672883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.58179790331144E-5	0.004
18	10672881	A	C	18	10672884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00861217590269484	0.368
18	10672881	A	G	18	10672884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00216778658985026	0.19
18	10672881	A	T	18	10672884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00426700786429582	0.426
18	10672882	G	A	18	10672885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.02219226451263E-5	0.004
18	10672882	G	C	18	10672885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.78882714806597E-4	0.1
18	10672882	G	T	18	10672885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.64429577694794E-4	0.052
18	10675198	A	C	18	10675201	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.07479411560192E-4	0.012
18	10675198	A	G	18	10675201	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.0927665260508E-4	0.018
18	10675198	A	T	18	10675201	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.2004927335089E-4	0.008
18	10675199	T	A	18	10675202	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.06204400305209E-4	0.002
18	10675199	T	C	18	10675202	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.04880898606558E-4	0.006
18	10675199	T	G	18	10675202	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.51591174045998E-4	0.008
18	10675200	T	A	18	10675203	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.35221050427499E-5	0.004
18	10675200	T	C	18	10675203	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.16363616962885E-5	0.004
18	10675200	T	G	18	10675203	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.48337445541477E-5	0.014
18	10675201	C	A	18	10675204	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999841779467794	0.862
18	10675201	C	G	18	10675204	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999931327053215	0.912
18	10675201	C	T	18	10675204	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999832711699706	0.916
18	10675202	T	A	18	10675205	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.552370145624806	0.452
18	10675202	T	C	18	10675205	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.914007606047724	0.608
18	10675202	T	G	18	10675205	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.710927944814747	0.456
18	10675203	T	A	18	10675206	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998746085471177	0.914
18	10675203	T	C	18	10675206	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.74632402222415	0.446
18	10675203	T	G	18	10675206	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997155001889859	0.932
18	10675204	A	C	18	10675207	y	y	splicing	PIEZO2(NM_022068:exon51:c.7822+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7633+2T>G;ENST00000285141:exon12:c.1198+2T>G;ENST00000538948:exon13:c.1693+2T>G;ENST00000582913:exon53:c.8028+2T>G;ENST00000503781:exon51:c.7822+2T>G;ENST00000580640:exon53:c.7897+2T>G)	.	.	0.999988247793601	0.93
18	10675204	A	G	18	10675207	y	y	splicing	PIEZO2(NM_022068:exon51:c.7822+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7633+2T>C;ENST00000285141:exon12:c.1198+2T>C;ENST00000538948:exon13:c.1693+2T>C;ENST00000582913:exon53:c.8028+2T>C;ENST00000503781:exon51:c.7822+2T>C;ENST00000580640:exon53:c.7897+2T>C)	.	.	0.99991522016916	0.892
18	10675204	A	T	18	10675207	y	y	splicing	PIEZO2(NM_022068:exon51:c.7822+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7633+2T>A;ENST00000285141:exon12:c.1198+2T>A;ENST00000538948:exon13:c.1693+2T>A;ENST00000582913:exon53:c.8028+2T>A;ENST00000503781:exon51:c.7822+2T>A;ENST00000580640:exon53:c.7897+2T>A)	.	.	0.999988247793601	0.93
18	10675205	C	A	18	10675208	y	y	splicing	PIEZO2(NM_022068:exon51:c.7822+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7633+1G>T;ENST00000285141:exon12:c.1198+1G>T;ENST00000538948:exon13:c.1693+1G>T;ENST00000582913:exon53:c.8028+1G>T;ENST00000503781:exon51:c.7822+1G>T;ENST00000580640:exon53:c.7897+1G>T)	.	.	0.999990361384395	0.936
18	10675205	C	G	18	10675208	y	y	splicing	PIEZO2(NM_022068:exon51:c.7822+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7633+1G>C;ENST00000285141:exon12:c.1198+1G>C;ENST00000538948:exon13:c.1693+1G>C;ENST00000582913:exon53:c.8028+1G>C;ENST00000503781:exon51:c.7822+1G>C;ENST00000580640:exon53:c.7897+1G>C)	.	.	0.999990361384395	0.936
18	10675205	C	T	18	10675208	y	y	splicing	PIEZO2(NM_022068:exon51:c.7822+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7633+1G>A;ENST00000285141:exon12:c.1198+1G>A;ENST00000538948:exon13:c.1693+1G>A;ENST00000582913:exon53:c.8028+1G>A;ENST00000503781:exon51:c.7822+1G>A;ENST00000580640:exon53:c.7897+1G>A)	.	.	0.999990361384395	0.938
18	10675206	C	A	18	10675209	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon50:c.G7822T:p.E2608X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon52:c.G7897T:p.E2633X;ENSG00000154864:ENST00000285141:exon11:c.G1198T:p.E400X;ENSG00000154864:ENST00000503781:exon50:c.G7822T:p.E2608X;ENSG00000154864:ENST00000538948:exon12:c.G1693T:p.E565X;ENSG00000154864:ENST00000302079:exon49:c.G7633T:p.E2545X;	0.999992465663694	0.992
18	10675206	C	G	18	10675209	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon50:c.G7822C:p.E2608Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.G7897C:p.E2633Q;ENSG00000154864:ENST00000285141:exon11:c.G1198C:p.E400Q;ENSG00000154864:ENST00000503781:exon50:c.G7822C:p.E2608Q;ENSG00000154864:ENST00000538948:exon12:c.G1693C:p.E565Q;ENSG00000154864:ENST00000302079:exon49:c.G7633C:p.E2545Q;	0.999992050675904	0.958
18	10675206	C	T	18	10675209	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon50:c.G7822A:p.E2608K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.G7897A:p.E2633K;ENSG00000154864:ENST00000285141:exon11:c.G1198A:p.E400K;ENSG00000154864:ENST00000503781:exon50:c.G7822A:p.E2608K;ENSG00000154864:ENST00000538948:exon12:c.G1693A:p.E565K;ENSG00000154864:ENST00000302079:exon49:c.G7633A:p.E2545K;	0.999862684944495	0.97
18	10675207	A	C	18	10675210	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon50:c.T7821G:p.S2607S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.T7896G:p.S2632S;ENSG00000154864:ENST00000285141:exon11:c.T1197G:p.S399S;ENSG00000154864:ENST00000503781:exon50:c.T7821G:p.S2607S;ENSG00000154864:ENST00000538948:exon12:c.T1692G:p.S564S;ENSG00000154864:ENST00000302079:exon49:c.T7632G:p.S2544S;	3.75118774573417E-4	0.042
18	10675207	A	G	18	10675210	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon50:c.T7821C:p.S2607S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.T7896C:p.S2632S;ENSG00000154864:ENST00000285141:exon11:c.T1197C:p.S399S;ENSG00000154864:ENST00000503781:exon50:c.T7821C:p.S2607S;ENSG00000154864:ENST00000538948:exon12:c.T1692C:p.S564S;ENSG00000154864:ENST00000302079:exon49:c.T7632C:p.S2544S;	5.2529897165641E-4	0.03
18	10675207	A	T	18	10675210	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon50:c.T7821A:p.S2607S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.T7896A:p.S2632S;ENSG00000154864:ENST00000285141:exon11:c.T1197A:p.S399S;ENSG00000154864:ENST00000503781:exon50:c.T7821A:p.S2607S;ENSG00000154864:ENST00000538948:exon12:c.T1692A:p.S564S;ENSG00000154864:ENST00000302079:exon49:c.T7632A:p.S2544S;	1.59493989335402E-4	0.126
18	10675208	G	A	18	10675211	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon50:c.C7820T:p.S2607F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.C7895T:p.S2632F;ENSG00000154864:ENST00000285141:exon11:c.C1196T:p.S399F;ENSG00000154864:ENST00000503781:exon50:c.C7820T:p.S2607F;ENSG00000154864:ENST00000538948:exon12:c.C1691T:p.S564F;ENSG00000154864:ENST00000302079:exon49:c.C7631T:p.S2544F;	0.998013740882119	0.63
18	10675208	G	C	18	10675211	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon50:c.C7820G:p.S2607C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.C7895G:p.S2632C;ENSG00000154864:ENST00000285141:exon11:c.C1196G:p.S399C;ENSG00000154864:ENST00000503781:exon50:c.C7820G:p.S2607C;ENSG00000154864:ENST00000538948:exon12:c.C1691G:p.S564C;ENSG00000154864:ENST00000302079:exon49:c.C7631G:p.S2544C;	0.939613221900085	0.574
18	10675208	G	T	18	10675211	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon50:c.C7820A:p.S2607Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.C7895A:p.S2632Y;ENSG00000154864:ENST00000285141:exon11:c.C1196A:p.S399Y;ENSG00000154864:ENST00000503781:exon50:c.C7820A:p.S2607Y;ENSG00000154864:ENST00000538948:exon12:c.C1691A:p.S564Y;ENSG00000154864:ENST00000302079:exon49:c.C7631A:p.S2544Y;	0.919584988629554	0.752
18	10675284	T	A	18	10675287	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon50:c.A7744T:p.T2582S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.A7819T:p.T2607S;ENSG00000154864:ENST00000285141:exon11:c.A1120T:p.T374S;ENSG00000154864:ENST00000503781:exon50:c.A7744T:p.T2582S;ENSG00000154864:ENST00000538948:exon12:c.A1615T:p.T539S;ENSG00000154864:ENST00000302079:exon49:c.A7555T:p.T2519S;	0.00225611397617334	0.028
18	10675284	T	C	18	10675287	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon50:c.A7744G:p.T2582A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.A7819G:p.T2607A;ENSG00000154864:ENST00000285141:exon11:c.A1120G:p.T374A;ENSG00000154864:ENST00000503781:exon50:c.A7744G:p.T2582A;ENSG00000154864:ENST00000538948:exon12:c.A1615G:p.T539A;ENSG00000154864:ENST00000302079:exon49:c.A7555G:p.T2519A;	0.00516215845990863	0.048
18	10675284	T	G	18	10675287	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon50:c.A7744C:p.T2582P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.A7819C:p.T2607P;ENSG00000154864:ENST00000285141:exon11:c.A1120C:p.T374P;ENSG00000154864:ENST00000503781:exon50:c.A7744C:p.T2582P;ENSG00000154864:ENST00000538948:exon12:c.A1615C:p.T539P;ENSG00000154864:ENST00000302079:exon49:c.A7555C:p.T2519P;	0.820510397181276	0.714
18	10675285	C	A	18	10675288	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon50:c.G7743T:p.V2581V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.G7818T:p.V2606V;ENSG00000154864:ENST00000285141:exon11:c.G1119T:p.V373V;ENSG00000154864:ENST00000503781:exon50:c.G7743T:p.V2581V;ENSG00000154864:ENST00000538948:exon12:c.G1614T:p.V538V;ENSG00000154864:ENST00000302079:exon49:c.G7554T:p.V2518V;	0.897040870040332	0.862
18	10675285	C	G	18	10675288	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon50:c.G7743C:p.V2581V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.G7818C:p.V2606V;ENSG00000154864:ENST00000285141:exon11:c.G1119C:p.V373V;ENSG00000154864:ENST00000503781:exon50:c.G7743C:p.V2581V;ENSG00000154864:ENST00000538948:exon12:c.G1614C:p.V538V;ENSG00000154864:ENST00000302079:exon49:c.G7554C:p.V2518V;	0.699305565875728	0.734
18	10675285	C	T	18	10675288	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon50:c.G7743A:p.V2581V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon52:c.G7818A:p.V2606V;ENSG00000154864:ENST00000285141:exon11:c.G1119A:p.V373V;ENSG00000154864:ENST00000503781:exon50:c.G7743A:p.V2581V;ENSG00000154864:ENST00000538948:exon12:c.G1614A:p.V538V;ENSG00000154864:ENST00000302079:exon49:c.G7554A:p.V2518V;	0.449252730691547	0.338
18	10675286	C	A	18	10675289	y	y	splicing	PIEZO2(NM_022068:exon51:c.7743-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7554-1G>T;ENST00000285141:exon12:c.1119-1G>T;ENST00000538948:exon13:c.1614-1G>T;ENST00000582913:exon53:c.7949-1G>T;ENST00000503781:exon51:c.7743-1G>T;ENST00000580640:exon53:c.7818-1G>T)	.	.	0.999990361384395	0.936
18	10675286	C	G	18	10675289	y	y	splicing	PIEZO2(NM_022068:exon51:c.7743-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7554-1G>C;ENST00000285141:exon12:c.1119-1G>C;ENST00000538948:exon13:c.1614-1G>C;ENST00000582913:exon53:c.7949-1G>C;ENST00000503781:exon51:c.7743-1G>C;ENST00000580640:exon53:c.7818-1G>C)	.	.	0.999990361384395	0.936
18	10675286	C	T	18	10675289	y	y	splicing	PIEZO2(NM_022068:exon51:c.7743-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7554-1G>A;ENST00000285141:exon12:c.1119-1G>A;ENST00000538948:exon13:c.1614-1G>A;ENST00000582913:exon53:c.7949-1G>A;ENST00000503781:exon51:c.7743-1G>A;ENST00000580640:exon53:c.7818-1G>A)	.	.	0.999990361384395	0.936
18	10675287	T	A	18	10675290	y	y	splicing	PIEZO2(NM_022068:exon51:c.7743-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7554-2A>T;ENST00000285141:exon12:c.1119-2A>T;ENST00000538948:exon13:c.1614-2A>T;ENST00000582913:exon53:c.7949-2A>T;ENST00000503781:exon51:c.7743-2A>T;ENST00000580640:exon53:c.7818-2A>T)	.	.	0.999988247793601	0.926
18	10675287	T	C	18	10675290	y	y	splicing	PIEZO2(NM_022068:exon51:c.7743-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7554-2A>G;ENST00000285141:exon12:c.1119-2A>G;ENST00000538948:exon13:c.1614-2A>G;ENST00000582913:exon53:c.7949-2A>G;ENST00000503781:exon51:c.7743-2A>G;ENST00000580640:exon53:c.7818-2A>G)	.	.	0.999988247793601	0.926
18	10675287	T	G	18	10675290	y	y	splicing	PIEZO2(NM_022068:exon51:c.7743-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon50:c.7554-2A>C;ENST00000285141:exon12:c.1119-2A>C;ENST00000538948:exon13:c.1614-2A>C;ENST00000582913:exon53:c.7949-2A>C;ENST00000503781:exon51:c.7743-2A>C;ENST00000580640:exon53:c.7818-2A>C)	.	.	0.999988247793601	0.926
18	10675288	G	A	18	10675291	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00527692618411886	0.042
18	10675288	G	C	18	10675291	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999701654428396	0.966
18	10675288	G	T	18	10675291	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.594300997327871	0.606
18	10675289	T	A	18	10675292	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.01985579410077E-4	0.0
18	10675289	T	C	18	10675292	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.10614338658889E-4	0.006
18	10675289	T	G	18	10675292	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.07738080503088E-4	0.0
18	10675290	A	C	18	10675293	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.134140587468976	0.442
18	10675290	A	G	18	10675293	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.91478866366292E-4	0.106
18	10675290	A	T	18	10675293	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.539682246337402	0.53
18	10675291	C	A	18	10675294	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.28214763654161E-4	0.008
18	10675291	C	G	18	10675294	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.48078789733001E-5	0.01
18	10675291	C	T	18	10675294	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.08115302319575E-4	0.012
18	10675292	A	C	18	10675295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999922161137561	0.956
18	10675292	A	G	18	10675295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.32895271894944E-5	0.006
18	10675292	A	T	18	10675295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999706464707396	0.942
18	10675293	T	A	18	10675296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.10324426514873E-4	0.006
18	10675293	T	C	18	10675296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999650868176922	0.972
18	10675293	T	G	18	10675296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.10324426514873E-4	0.008
18	10675294	T	A	18	10675297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.94889140152278E-5	0.066
18	10675294	T	C	18	10675297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.81388757004191E-5	0.044
18	10675294	T	G	18	10675297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.52174550314034E-5	0.024
18	10675295	A	C	18	10675298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.81598384065814	0.486
18	10675295	A	G	18	10675298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.79316563008115E-5	0.132
18	10675295	A	T	18	10675298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.658602015551424	0.414
18	10675296	A	C	18	10675299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996259580700788	0.752
18	10675296	A	G	18	10675299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.428236572749486	0.368
18	10675296	A	T	18	10675299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997022947697395	0.818
18	10675297	G	A	18	10675300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.25009390976545E-4	0.278
18	10675297	G	C	18	10675300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.06434732288616E-4	0.166
18	10675297	G	T	18	10675300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00256190213733571	0.144
18	10677736	A	C	18	10677739	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.58699543773112E-4	0.014
18	10677736	A	G	18	10677739	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.24055816857214E-4	0.022
18	10677736	A	T	18	10677739	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.20745689789724E-4	0.016
18	10677737	C	A	18	10677740	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.91134389985645E-4	0.024
18	10677737	C	G	18	10677740	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.30158659521733E-4	0.016
18	10677737	C	T	18	10677740	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.70632872666906E-4	0.004
18	10677738	A	C	18	10677741	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995507328787643	0.838
18	10677738	A	G	18	10677741	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.95009417213533	0.79
18	10677738	A	T	18	10677741	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995345124794607	0.734
18	10677739	C	A	18	10677742	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999976008337081	0.944
18	10677739	C	G	18	10677742	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999961176025768	0.99
18	10677739	C	T	18	10677742	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999972932335673	0.984
18	10677740	T	A	18	10677743	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998870095517804	0.94
18	10677740	T	C	18	10677743	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998679166236879	0.984
18	10677740	T	G	18	10677743	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998812818903823	0.8
18	10677741	T	A	18	10677744	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999880312309777	0.972
18	10677741	T	C	18	10677744	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.263078044960256	0.424
18	10677741	T	G	18	10677744	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999913738130844	0.952
18	10677742	A	C	18	10677745	y	y	splicing	PIEZO2(NM_022068:exon50:c.7742+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7553+2T>G;ENST00000285141:exon11:c.1118+2T>G;ENST00000538948:exon12:c.1613+2T>G;ENST00000582913:exon52:c.7948+2T>G;ENST00000503781:exon50:c.7742+2T>G;ENST00000580640:exon52:c.7817+2T>G)	.	.	0.999988247793601	0.932
18	10677742	A	G	18	10677745	y	y	splicing	PIEZO2(NM_022068:exon50:c.7742+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7553+2T>C;ENST00000285141:exon11:c.1118+2T>C;ENST00000538948:exon12:c.1613+2T>C;ENST00000582913:exon52:c.7948+2T>C;ENST00000503781:exon50:c.7742+2T>C;ENST00000580640:exon52:c.7817+2T>C)	.	.	0.995320650369382	0.676
18	10677742	A	T	18	10677745	y	y	splicing	PIEZO2(NM_022068:exon50:c.7742+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7553+2T>A;ENST00000285141:exon11:c.1118+2T>A;ENST00000538948:exon12:c.1613+2T>A;ENST00000582913:exon52:c.7948+2T>A;ENST00000503781:exon50:c.7742+2T>A;ENST00000580640:exon52:c.7817+2T>A)	.	.	0.999988247793601	0.932
18	10677743	C	A	18	10677746	y	y	splicing	PIEZO2(NM_022068:exon50:c.7742+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7553+1G>T;ENST00000285141:exon11:c.1118+1G>T;ENST00000538948:exon12:c.1613+1G>T;ENST00000582913:exon52:c.7948+1G>T;ENST00000503781:exon50:c.7742+1G>T;ENST00000580640:exon52:c.7817+1G>T)	.	.	0.999990361384395	0.938
18	10677743	C	G	18	10677746	y	y	splicing	PIEZO2(NM_022068:exon50:c.7742+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7553+1G>C;ENST00000285141:exon11:c.1118+1G>C;ENST00000538948:exon12:c.1613+1G>C;ENST00000582913:exon52:c.7948+1G>C;ENST00000503781:exon50:c.7742+1G>C;ENST00000580640:exon52:c.7817+1G>C)	.	.	0.999990361384395	0.938
18	10677743	C	T	18	10677746	y	y	splicing	PIEZO2(NM_022068:exon50:c.7742+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7553+1G>A;ENST00000285141:exon11:c.1118+1G>A;ENST00000538948:exon12:c.1613+1G>A;ENST00000582913:exon52:c.7948+1G>A;ENST00000503781:exon50:c.7742+1G>A;ENST00000580640:exon52:c.7817+1G>A)	.	.	0.999990361384395	0.938
18	10677744	A	C	18	10677747	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.T7742G:p.V2581G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.T7817G:p.V2606G;ENSG00000154864:ENST00000285141:exon10:c.T1118G:p.V373G;ENSG00000154864:ENST00000503781:exon49:c.T7742G:p.V2581G;ENSG00000154864:ENST00000538948:exon11:c.T1613G:p.V538G;ENSG00000154864:ENST00000302079:exon48:c.T7553G:p.V2518G;	0.0295857760029602	0.168
18	10677744	A	G	18	10677747	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.T7742C:p.V2581A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.T7817C:p.V2606A;ENSG00000154864:ENST00000285141:exon10:c.T1118C:p.V373A;ENSG00000154864:ENST00000503781:exon49:c.T7742C:p.V2581A;ENSG00000154864:ENST00000538948:exon11:c.T1613C:p.V538A;ENSG00000154864:ENST00000302079:exon48:c.T7553C:p.V2518A;	0.69950355302097	0.686
18	10677744	A	T	18	10677747	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.T7742A:p.V2581E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.T7817A:p.V2606E;ENSG00000154864:ENST00000285141:exon10:c.T1118A:p.V373E;ENSG00000154864:ENST00000503781:exon49:c.T7742A:p.V2581E;ENSG00000154864:ENST00000538948:exon11:c.T1613A:p.V538E;ENSG00000154864:ENST00000302079:exon48:c.T7553A:p.V2518E;	0.909948738956825	0.78
18	10677745	C	A	18	10677748	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.G7741T:p.V2581L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.G7816T:p.V2606L;ENSG00000154864:ENST00000285141:exon10:c.G1117T:p.V373L;ENSG00000154864:ENST00000503781:exon49:c.G7741T:p.V2581L;ENSG00000154864:ENST00000538948:exon11:c.G1612T:p.V538L;ENSG00000154864:ENST00000302079:exon48:c.G7552T:p.V2518L;	0.993071677381863	0.828
18	10677745	C	G	18	10677748	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.G7741C:p.V2581L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.G7816C:p.V2606L;ENSG00000154864:ENST00000285141:exon10:c.G1117C:p.V373L;ENSG00000154864:ENST00000503781:exon49:c.G7741C:p.V2581L;ENSG00000154864:ENST00000538948:exon11:c.G1612C:p.V538L;ENSG00000154864:ENST00000302079:exon48:c.G7552C:p.V2518L;	0.994139404137267	0.796
18	10677745	C	T	18	10677748	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.G7741A:p.V2581M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.G7816A:p.V2606M;ENSG00000154864:ENST00000285141:exon10:c.G1117A:p.V373M;ENSG00000154864:ENST00000503781:exon49:c.G7741A:p.V2581M;ENSG00000154864:ENST00000538948:exon11:c.G1612A:p.V538M;ENSG00000154864:ENST00000302079:exon48:c.G7552A:p.V2518M;	0.971377567513423	0.658
18	10677746	T	A	18	10677749	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon49:c.A7740T:p.P2580P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7815T:p.P2605P;ENSG00000154864:ENST00000285141:exon10:c.A1116T:p.P372P;ENSG00000154864:ENST00000503781:exon49:c.A7740T:p.P2580P;ENSG00000154864:ENST00000538948:exon11:c.A1611T:p.P537P;ENSG00000154864:ENST00000302079:exon48:c.A7551T:p.P2517P;	0.00161337471525816	0.186
18	10677746	T	C	18	10677749	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon49:c.A7740G:p.P2580P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7815G:p.P2605P;ENSG00000154864:ENST00000285141:exon10:c.A1116G:p.P372P;ENSG00000154864:ENST00000503781:exon49:c.A7740G:p.P2580P;ENSG00000154864:ENST00000538948:exon11:c.A1611G:p.P537P;ENSG00000154864:ENST00000302079:exon48:c.A7551G:p.P2517P;	1.5471065903645E-4	0.01
18	10677746	T	G	18	10677749	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon49:c.A7740C:p.P2580P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7815C:p.P2605P;ENSG00000154864:ENST00000285141:exon10:c.A1116C:p.P372P;ENSG00000154864:ENST00000503781:exon49:c.A7740C:p.P2580P;ENSG00000154864:ENST00000538948:exon11:c.A1611C:p.P537P;ENSG00000154864:ENST00000302079:exon48:c.A7551C:p.P2517P;	5.88875951711047E-5	0.002
18	10677871	T	A	18	10677874	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.A7615T:p.N2539Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7690T:p.N2564Y;ENSG00000154864:ENST00000285141:exon10:c.A991T:p.N331Y;ENSG00000154864:ENST00000503781:exon49:c.A7615T:p.N2539Y;ENSG00000154864:ENST00000538948:exon11:c.A1486T:p.N496Y;ENSG00000154864:ENST00000302079:exon48:c.A7426T:p.N2476Y;	0.674475654336318	0.74
18	10677871	T	C	18	10677874	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.A7615G:p.N2539D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7690G:p.N2564D;ENSG00000154864:ENST00000285141:exon10:c.A991G:p.N331D;ENSG00000154864:ENST00000503781:exon49:c.A7615G:p.N2539D;ENSG00000154864:ENST00000538948:exon11:c.A1486G:p.N496D;ENSG00000154864:ENST00000302079:exon48:c.A7426G:p.N2476D;	0.00117492098077859	0.012
18	10677871	T	G	18	10677874	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.A7615C:p.N2539H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7690C:p.N2564H;ENSG00000154864:ENST00000285141:exon10:c.A991C:p.N331H;ENSG00000154864:ENST00000503781:exon49:c.A7615C:p.N2539H;ENSG00000154864:ENST00000538948:exon11:c.A1486C:p.N496H;ENSG00000154864:ENST00000302079:exon48:c.A7426C:p.N2476H;	0.854138475629787	0.84
18	10677872	T	A	18	10677875	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.A7614T:p.R2538S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7689T:p.R2563S;ENSG00000154864:ENST00000285141:exon10:c.A990T:p.R330S;ENSG00000154864:ENST00000503781:exon49:c.A7614T:p.R2538S;ENSG00000154864:ENST00000538948:exon11:c.A1485T:p.R495S;ENSG00000154864:ENST00000302079:exon48:c.A7425T:p.R2475S;	0.406869611703733	0.644
18	10677872	T	C	18	10677875	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon49:c.A7614G:p.R2538R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7689G:p.R2563R;ENSG00000154864:ENST00000285141:exon10:c.A990G:p.R330R;ENSG00000154864:ENST00000503781:exon49:c.A7614G:p.R2538R;ENSG00000154864:ENST00000538948:exon11:c.A1485G:p.R495R;ENSG00000154864:ENST00000302079:exon48:c.A7425G:p.R2475R;	0.0012061250504962	0.016
18	10677872	T	G	18	10677875	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon49:c.A7614C:p.R2538S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon51:c.A7689C:p.R2563S;ENSG00000154864:ENST00000285141:exon10:c.A990C:p.R330S;ENSG00000154864:ENST00000503781:exon49:c.A7614C:p.R2538S;ENSG00000154864:ENST00000538948:exon11:c.A1485C:p.R495S;ENSG00000154864:ENST00000302079:exon48:c.A7425C:p.R2475S;	0.217154244521553	0.656
18	10677873	C	A	18	10677876	y	y	splicing	PIEZO2(NM_022068:exon50:c.7614-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7425-1G>T;ENST00000285141:exon11:c.990-1G>T;ENST00000538948:exon12:c.1485-1G>T;ENST00000582913:exon52:c.7820-1G>T;ENST00000503781:exon50:c.7614-1G>T;ENST00000580640:exon52:c.7689-1G>T)	.	.	0.999985532734767	0.934
18	10677873	C	G	18	10677876	y	y	splicing	PIEZO2(NM_022068:exon50:c.7614-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7425-1G>C;ENST00000285141:exon11:c.990-1G>C;ENST00000538948:exon12:c.1485-1G>C;ENST00000582913:exon52:c.7820-1G>C;ENST00000503781:exon50:c.7614-1G>C;ENST00000580640:exon52:c.7689-1G>C)	.	.	0.999985532734767	0.934
18	10677873	C	T	18	10677876	y	y	splicing	PIEZO2(NM_022068:exon50:c.7614-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7425-1G>A;ENST00000285141:exon11:c.990-1G>A;ENST00000538948:exon12:c.1485-1G>A;ENST00000582913:exon52:c.7820-1G>A;ENST00000503781:exon50:c.7614-1G>A;ENST00000580640:exon52:c.7689-1G>A)	.	.	0.999985532734767	0.934
18	10677874	T	A	18	10677877	y	y	splicing	PIEZO2(NM_022068:exon50:c.7614-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7425-2A>T;ENST00000285141:exon11:c.990-2A>T;ENST00000538948:exon12:c.1485-2A>T;ENST00000582913:exon52:c.7820-2A>T;ENST00000503781:exon50:c.7614-2A>T;ENST00000580640:exon52:c.7689-2A>T)	.	.	0.999988247793601	0.926
18	10677874	T	C	18	10677877	y	y	splicing	PIEZO2(NM_022068:exon50:c.7614-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7425-2A>G;ENST00000285141:exon11:c.990-2A>G;ENST00000538948:exon12:c.1485-2A>G;ENST00000582913:exon52:c.7820-2A>G;ENST00000503781:exon50:c.7614-2A>G;ENST00000580640:exon52:c.7689-2A>G)	.	.	0.999988247793601	0.926
18	10677874	T	G	18	10677877	y	y	splicing	PIEZO2(NM_022068:exon50:c.7614-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon49:c.7425-2A>C;ENST00000285141:exon11:c.990-2A>C;ENST00000538948:exon12:c.1485-2A>C;ENST00000582913:exon52:c.7820-2A>C;ENST00000503781:exon50:c.7614-2A>C;ENST00000580640:exon52:c.7689-2A>C)	.	.	0.999988247793601	0.926
18	10677875	G	A	18	10677878	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0330232561541122	0.136
18	10677875	G	C	18	10677878	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998662592514566	0.926
18	10677875	G	T	18	10677878	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.577975859495367	0.562
18	10677876	T	A	18	10677879	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.08759588052095E-4	0.0
18	10677876	T	C	18	10677879	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.5075577657845E-5	0.0
18	10677876	T	G	18	10677879	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.67963023226005E-5	0.002
18	10677877	G	A	18	10677880	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.26525642872804E-5	0.0
18	10677877	G	C	18	10677880	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.63084661314553E-4	0.024
18	10677877	G	T	18	10677880	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.12077350052292E-4	0.014
18	10677878	A	C	18	10677881	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00233171105477522	0.098
18	10677878	A	G	18	10677881	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.20468569454252E-5	0.0
18	10677878	A	T	18	10677881	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.93123860701853E-4	0.05
18	10677879	A	C	18	10677882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.50478282199999E-4	0.036
18	10677879	A	G	18	10677882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.14560100132522E-4	0.002
18	10677879	A	T	18	10677882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00171037609075358	0.084
18	10677880	G	A	18	10677883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.64205150283169E-4	0.008
18	10677880	G	C	18	10677883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.38472598922697E-4	0.028
18	10677880	G	T	18	10677883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.79320124183777E-4	0.05
18	10677881	A	C	18	10677884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.24701264969283E-4	0.054
18	10677881	A	G	18	10677884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.03785806517125E-5	0.012
18	10677881	A	T	18	10677884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.40321360194999E-4	0.056
18	10677882	A	C	18	10677885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.49522442729892E-5	0.054
18	10677882	A	G	18	10677885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.38326161335817E-5	0.022
18	10677882	A	T	18	10677885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.76257037960172E-4	0.054
18	10677883	A	C	18	10677886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.04277250239872E-4	0.1
18	10677883	A	G	18	10677886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.8584477416402E-4	0.018
18	10677883	A	T	18	10677886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.39041961023327E-4	0.116
18	10677884	A	C	18	10677887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.81057276481141E-4	0.08
18	10677884	A	G	18	10677887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.82849973318085E-4	0.018
18	10677884	A	T	18	10677887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00357574432929531	0.072
18	10680188	G	A	18	10680191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0118426957288349	0.06
18	10680188	G	C	18	10680191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00386550668422083	0.048
18	10680188	G	T	18	10680191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00349774455591715	0.052
18	10680189	T	A	18	10680192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.630569306971749	0.338
18	10680189	T	C	18	10680192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.204749320415421	0.328
18	10680189	T	G	18	10680192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.381240600886219	0.47
18	10680190	A	C	18	10680193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.911821038559521	0.6
18	10680190	A	G	18	10680193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.952147444257896	0.71
18	10680190	A	T	18	10680193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.828831589760966	0.664
18	10680191	A	C	18	10680194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00635639950842467	0.128
18	10680191	A	G	18	10680194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.092409529279826	0.466
18	10680191	A	T	18	10680194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.230554483242428	0.426
18	10680192	C	A	18	10680195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.499676282626196	0.336
18	10680192	C	G	18	10680195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0843040859584123	0.41
18	10680192	C	T	18	10680195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0857374047320535	0.232
18	10680193	T	A	18	10680196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999966597838886	0.982
18	10680193	T	C	18	10680196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99978864470905	0.962
18	10680193	T	G	18	10680196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999938971887937	0.874
18	10680194	A	C	18	10680197	y	y	splicing	PIEZO2(NM_022068:exon49:c.7613+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7424+2T>G;ENST00000285141:exon10:c.989+2T>G;ENST00000538948:exon11:c.1484+2T>G;ENST00000582913:exon51:c.7819+2T>G;ENST00000503781:exon49:c.7613+2T>G;ENST00000580640:exon51:c.7688+2T>G)	.	.	0.999990764389106	0.944
18	10680194	A	G	18	10680197	y	y	splicing	PIEZO2(NM_022068:exon49:c.7613+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7424+2T>C;ENST00000285141:exon10:c.989+2T>C;ENST00000538948:exon11:c.1484+2T>C;ENST00000582913:exon51:c.7819+2T>C;ENST00000503781:exon49:c.7613+2T>C;ENST00000580640:exon51:c.7688+2T>C)	.	.	0.993444990566517	0.69
18	10680194	A	T	18	10680197	y	y	splicing	PIEZO2(NM_022068:exon49:c.7613+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7424+2T>A;ENST00000285141:exon10:c.989+2T>A;ENST00000538948:exon11:c.1484+2T>A;ENST00000582913:exon51:c.7819+2T>A;ENST00000503781:exon49:c.7613+2T>A;ENST00000580640:exon51:c.7688+2T>A)	.	.	0.999990764389106	0.944
18	10680195	C	A	18	10680198	y	y	splicing	PIEZO2(NM_022068:exon49:c.7613+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7424+1G>T;ENST00000285141:exon10:c.989+1G>T;ENST00000538948:exon11:c.1484+1G>T;ENST00000582913:exon51:c.7819+1G>T;ENST00000503781:exon49:c.7613+1G>T;ENST00000580640:exon51:c.7688+1G>T)	.	.	0.999992425382947	0.942
18	10680195	C	G	18	10680198	y	y	splicing	PIEZO2(NM_022068:exon49:c.7613+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7424+1G>C;ENST00000285141:exon10:c.989+1G>C;ENST00000538948:exon11:c.1484+1G>C;ENST00000582913:exon51:c.7819+1G>C;ENST00000503781:exon49:c.7613+1G>C;ENST00000580640:exon51:c.7688+1G>C)	.	.	0.999992425382947	0.942
18	10680195	C	T	18	10680198	y	y	splicing	PIEZO2(NM_022068:exon49:c.7613+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7424+1G>A;ENST00000285141:exon10:c.989+1G>A;ENST00000538948:exon11:c.1484+1G>A;ENST00000582913:exon51:c.7819+1G>A;ENST00000503781:exon49:c.7613+1G>A;ENST00000580640:exon51:c.7688+1G>A)	.	.	0.999992425382947	0.942
18	10680196	C	A	18	10680199	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7613T:p.R2538I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7688T:p.R2563I;ENSG00000154864:ENST00000285141:exon9:c.G989T:p.R330I;ENSG00000154864:ENST00000503781:exon48:c.G7613T:p.R2538I;ENSG00000154864:ENST00000538948:exon10:c.G1484T:p.R495I;ENSG00000154864:ENST00000302079:exon47:c.G7424T:p.R2475I;	0.999995553603527	1.0
18	10680196	C	G	18	10680199	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7613C:p.R2538T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7688C:p.R2563T;ENSG00000154864:ENST00000285141:exon9:c.G989C:p.R330T;ENSG00000154864:ENST00000503781:exon48:c.G7613C:p.R2538T;ENSG00000154864:ENST00000538948:exon10:c.G1484C:p.R495T;ENSG00000154864:ENST00000302079:exon47:c.G7424C:p.R2475T;	0.999997925665413	1.0
18	10680196	C	T	18	10680199	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7613A:p.R2538K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7688A:p.R2563K;ENSG00000154864:ENST00000285141:exon9:c.G989A:p.R330K;ENSG00000154864:ENST00000503781:exon48:c.G7613A:p.R2538K;ENSG00000154864:ENST00000538948:exon10:c.G1484A:p.R495K;ENSG00000154864:ENST00000302079:exon47:c.G7424A:p.R2475K;	0.999995444525491	1.0
18	10680197	T	A	18	10680200	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon48:c.A7612T:p.R2538X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon50:c.A7687T:p.R2563X;ENSG00000154864:ENST00000285141:exon9:c.A988T:p.R330X;ENSG00000154864:ENST00000503781:exon48:c.A7612T:p.R2538X;ENSG00000154864:ENST00000538948:exon10:c.A1483T:p.R495X;ENSG00000154864:ENST00000302079:exon47:c.A7423T:p.R2475X;	0.999978641802667	0.996
18	10680197	T	C	18	10680200	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.A7612G:p.R2538G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.A7687G:p.R2563G;ENSG00000154864:ENST00000285141:exon9:c.A988G:p.R330G;ENSG00000154864:ENST00000503781:exon48:c.A7612G:p.R2538G;ENSG00000154864:ENST00000538948:exon10:c.A1483G:p.R495G;ENSG00000154864:ENST00000302079:exon47:c.A7423G:p.R2475G;	0.999970421296362	0.994
18	10680197	T	G	18	10680200	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon48:c.A7612C:p.R2538R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.A7687C:p.R2563R;ENSG00000154864:ENST00000285141:exon9:c.A988C:p.R330R;ENSG00000154864:ENST00000503781:exon48:c.A7612C:p.R2538R;ENSG00000154864:ENST00000538948:exon10:c.A1483C:p.R495R;ENSG00000154864:ENST00000302079:exon47:c.A7423C:p.R2475R;	0.999849782422755	0.996
18	10680198	C	A	18	10680201	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7611T:p.Q2537H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7686T:p.Q2562H;ENSG00000154864:ENST00000285141:exon9:c.G987T:p.Q329H;ENSG00000154864:ENST00000503781:exon48:c.G7611T:p.Q2537H;ENSG00000154864:ENST00000538948:exon10:c.G1482T:p.Q494H;ENSG00000154864:ENST00000302079:exon47:c.G7422T:p.Q2474H;	0.810126057514758	0.462
18	10680198	C	G	18	10680201	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7611C:p.Q2537H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7686C:p.Q2562H;ENSG00000154864:ENST00000285141:exon9:c.G987C:p.Q329H;ENSG00000154864:ENST00000503781:exon48:c.G7611C:p.Q2537H;ENSG00000154864:ENST00000538948:exon10:c.G1482C:p.Q494H;ENSG00000154864:ENST00000302079:exon47:c.G7422C:p.Q2474H;	0.294536526205564	0.482
18	10680198	C	T	18	10680201	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon48:c.G7611A:p.Q2537Q;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7686A:p.Q2562Q;ENSG00000154864:ENST00000285141:exon9:c.G987A:p.Q329Q;ENSG00000154864:ENST00000503781:exon48:c.G7611A:p.Q2537Q;ENSG00000154864:ENST00000538948:exon10:c.G1482A:p.Q494Q;ENSG00000154864:ENST00000302079:exon47:c.G7422A:p.Q2474Q;	0.00118991632150583	0.034
18	10680367	C	A	18	10680370	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7442T:p.G2481V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7517T:p.G2506V;ENSG00000154864:ENST00000285141:exon9:c.G818T:p.G273V;ENSG00000154864:ENST00000503781:exon48:c.G7442T:p.G2481V;ENSG00000154864:ENST00000538948:exon10:c.G1313T:p.G438V;ENSG00000154864:ENST00000302079:exon47:c.G7253T:p.G2418V;	0.00158659348628405	0.072
18	10680367	C	G	18	10680370	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7442C:p.G2481A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7517C:p.G2506A;ENSG00000154864:ENST00000285141:exon9:c.G818C:p.G273A;ENSG00000154864:ENST00000503781:exon48:c.G7442C:p.G2481A;ENSG00000154864:ENST00000538948:exon10:c.G1313C:p.G438A;ENSG00000154864:ENST00000302079:exon47:c.G7253C:p.G2418A;	2.1117994590011E-4	0.062
18	10680367	C	T	18	10680370	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7442A:p.G2481D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7517A:p.G2506D;ENSG00000154864:ENST00000285141:exon9:c.G818A:p.G273D;ENSG00000154864:ENST00000503781:exon48:c.G7442A:p.G2481D;ENSG00000154864:ENST00000538948:exon10:c.G1313A:p.G438D;ENSG00000154864:ENST00000302079:exon47:c.G7253A:p.G2418D;	6.52342857354056E-4	0.066
18	10680368	C	A	18	10680371	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7441T:p.G2481C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7516T:p.G2506C;ENSG00000154864:ENST00000285141:exon9:c.G817T:p.G273C;ENSG00000154864:ENST00000503781:exon48:c.G7441T:p.G2481C;ENSG00000154864:ENST00000538948:exon10:c.G1312T:p.G438C;ENSG00000154864:ENST00000302079:exon47:c.G7252T:p.G2418C;	0.99485059089232	0.918
18	10680368	C	G	18	10680371	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7441C:p.G2481R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7516C:p.G2506R;ENSG00000154864:ENST00000285141:exon9:c.G817C:p.G273R;ENSG00000154864:ENST00000503781:exon48:c.G7441C:p.G2481R;ENSG00000154864:ENST00000538948:exon10:c.G1312C:p.G438R;ENSG00000154864:ENST00000302079:exon47:c.G7252C:p.G2418R;	0.0626056377501101	0.422
18	10680368	C	T	18	10680371	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon48:c.G7441A:p.G2481S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon50:c.G7516A:p.G2506S;ENSG00000154864:ENST00000285141:exon9:c.G817A:p.G273S;ENSG00000154864:ENST00000503781:exon48:c.G7441A:p.G2481S;ENSG00000154864:ENST00000538948:exon10:c.G1312A:p.G438S;ENSG00000154864:ENST00000302079:exon47:c.G7252A:p.G2418S;	0.0161578373658845	0.342
18	10680369	C	A	18	10680372	y	y	splicing	PIEZO2(NM_022068:exon49:c.7441-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7252-1G>T;ENST00000285141:exon10:c.817-1G>T;ENST00000538948:exon11:c.1312-1G>T;ENST00000582913:exon51:c.7647-1G>T;ENST00000503781:exon49:c.7441-1G>T;ENST00000580640:exon51:c.7516-1G>T)	.	.	0.999991275437518	0.906
18	10680369	C	G	18	10680372	y	y	splicing	PIEZO2(NM_022068:exon49:c.7441-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7252-1G>C;ENST00000285141:exon10:c.817-1G>C;ENST00000538948:exon11:c.1312-1G>C;ENST00000582913:exon51:c.7647-1G>C;ENST00000503781:exon49:c.7441-1G>C;ENST00000580640:exon51:c.7516-1G>C)	.	.	0.999991275437518	0.904
18	10680369	C	T	18	10680372	y	y	splicing	PIEZO2(NM_022068:exon49:c.7441-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7252-1G>A;ENST00000285141:exon10:c.817-1G>A;ENST00000538948:exon11:c.1312-1G>A;ENST00000582913:exon51:c.7647-1G>A;ENST00000503781:exon49:c.7441-1G>A;ENST00000580640:exon51:c.7516-1G>A)	.	.	0.999991275437518	0.906
18	10680370	T	A	18	10680373	y	y	splicing	PIEZO2(NM_022068:exon49:c.7441-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7252-2A>T;ENST00000285141:exon10:c.817-2A>T;ENST00000538948:exon11:c.1312-2A>T;ENST00000582913:exon51:c.7647-2A>T;ENST00000503781:exon49:c.7441-2A>T;ENST00000580640:exon51:c.7516-2A>T)	.	.	0.999961358093054	0.912
18	10680370	T	C	18	10680373	y	y	splicing	PIEZO2(NM_022068:exon49:c.7441-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7252-2A>G;ENST00000285141:exon10:c.817-2A>G;ENST00000538948:exon11:c.1312-2A>G;ENST00000582913:exon51:c.7647-2A>G;ENST00000503781:exon49:c.7441-2A>G;ENST00000580640:exon51:c.7516-2A>G)	.	.	0.999961358093054	0.91
18	10680370	T	G	18	10680373	y	y	splicing	PIEZO2(NM_022068:exon49:c.7441-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon48:c.7252-2A>C;ENST00000285141:exon10:c.817-2A>C;ENST00000538948:exon11:c.1312-2A>C;ENST00000582913:exon51:c.7647-2A>C;ENST00000503781:exon49:c.7441-2A>C;ENST00000580640:exon51:c.7516-2A>C)	.	.	0.999961358093054	0.91
18	10680371	G	A	18	10680374	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.242259377614204	0.214
18	10680371	G	C	18	10680374	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999487095347574	0.94
18	10680371	G	T	18	10680374	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.967635484868277	0.846
18	10680372	T	A	18	10680375	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.88238856706721E-6	0.036
18	10680372	T	C	18	10680375	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.57965712999936E-4	0.094
18	10680372	T	G	18	10680375	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.51806191534552E-4	0.08
18	10680373	A	C	18	10680376	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999333436232701	0.882
18	10680373	A	G	18	10680376	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.38961912013206E-4	0.082
18	10680373	A	T	18	10680376	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.530456072112683	0.566
18	10680374	T	A	18	10680377	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.380446498119578	0.428
18	10680374	T	C	18	10680377	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.817894025334148	0.638
18	10680374	T	G	18	10680377	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.193184935765828	0.47
18	10680375	G	A	18	10680378	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.08347279503138E-4	0.09
18	10680375	G	C	18	10680378	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99978442817556	0.936
18	10680375	G	T	18	10680378	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0429888767577902	0.24
18	10680376	T	A	18	10680379	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.38104424727813E-4	0.052
18	10680376	T	C	18	10680379	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.79720337943839E-5	0.144
18	10680376	T	G	18	10680379	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.38104424727813E-4	0.046
18	10680377	G	A	18	10680380	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.49915633538461E-5	0.108
18	10680377	G	C	18	10680380	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0139067959096912	0.204
18	10680377	G	T	18	10680380	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00539900424395823	0.108
18	10680378	C	A	18	10680381	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.598924232842377	0.628
18	10680378	C	G	18	10680381	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.30871734615939	0.614
18	10680378	C	T	18	10680381	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.750588777595498	0.452
18	10680379	A	C	18	10680382	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.984576844943881	0.786
18	10680379	A	G	18	10680382	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0865090327429498	0.248
18	10680379	A	T	18	10680382	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.9998253496006	0.92
18	10680380	C	A	18	10680383	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.963835087721004	0.612
18	10680380	C	G	18	10680383	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.966231353941026	0.678
18	10680380	C	T	18	10680383	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99180392471378	0.778
18	10681650	T	A	18	10681653	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.36647886088347E-4	0.004
18	10681650	T	C	18	10681653	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.46793407640872E-4	0.008
18	10681650	T	G	18	10681653	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.17846898225626E-4	0.004
18	10681651	T	A	18	10681654	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0996567411699379	0.254
18	10681651	T	C	18	10681654	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0233574670764486	0.162
18	10681651	T	G	18	10681654	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0233574670764486	0.164
18	10681652	A	C	18	10681655	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998072663974751	0.956
18	10681652	A	G	18	10681655	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995127554265744	0.948
18	10681652	A	T	18	10681655	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995873811371114	0.752
18	10681653	C	A	18	10681656	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999939518547984	0.882
18	10681653	C	G	18	10681656	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999897408702013	0.988
18	10681653	C	T	18	10681656	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999970292912845	0.99
18	10681654	T	A	18	10681657	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999179436220094	0.924
18	10681654	T	C	18	10681657	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999354620626733	0.986
18	10681654	T	G	18	10681657	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999528647804707	0.918
18	10681655	T	A	18	10681658	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999899998520981	0.978
18	10681655	T	C	18	10681658	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.992264583526442	0.538
18	10681655	T	G	18	10681658	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999559317003733	0.932
18	10681656	A	C	18	10681659	y	y	splicing	PIEZO2(NM_022068:exon48:c.7440+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7251+2T>G;ENST00000285141:exon9:c.816+2T>G;ENST00000538948:exon10:c.1311+2T>G;ENST00000582913:exon50:c.7646+2T>G;ENST00000503781:exon48:c.7440+2T>G;ENST00000580640:exon50:c.7515+2T>G)	.	.	0.999988247793601	0.926
18	10681656	A	G	18	10681659	y	y	splicing	PIEZO2(NM_022068:exon48:c.7440+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7251+2T>C;ENST00000285141:exon9:c.816+2T>C;ENST00000538948:exon10:c.1311+2T>C;ENST00000582913:exon50:c.7646+2T>C;ENST00000503781:exon48:c.7440+2T>C;ENST00000580640:exon50:c.7515+2T>C)	.	.	0.98918007292081	0.64
18	10681656	A	T	18	10681659	y	y	splicing	PIEZO2(NM_022068:exon48:c.7440+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7251+2T>A;ENST00000285141:exon9:c.816+2T>A;ENST00000538948:exon10:c.1311+2T>A;ENST00000582913:exon50:c.7646+2T>A;ENST00000503781:exon48:c.7440+2T>A;ENST00000580640:exon50:c.7515+2T>A)	.	.	0.999988247793601	0.928
18	10681657	C	A	18	10681660	y	y	splicing	PIEZO2(NM_022068:exon48:c.7440+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7251+1G>T;ENST00000285141:exon9:c.816+1G>T;ENST00000538948:exon10:c.1311+1G>T;ENST00000582913:exon50:c.7646+1G>T;ENST00000503781:exon48:c.7440+1G>T;ENST00000580640:exon50:c.7515+1G>T)	.	.	0.999985532734767	0.936
18	10681657	C	G	18	10681660	y	y	splicing	PIEZO2(NM_022068:exon48:c.7440+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7251+1G>C;ENST00000285141:exon9:c.816+1G>C;ENST00000538948:exon10:c.1311+1G>C;ENST00000582913:exon50:c.7646+1G>C;ENST00000503781:exon48:c.7440+1G>C;ENST00000580640:exon50:c.7515+1G>C)	.	.	0.999985532734767	0.934
18	10681657	C	T	18	10681660	y	y	splicing	PIEZO2(NM_022068:exon48:c.7440+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7251+1G>A;ENST00000285141:exon9:c.816+1G>A;ENST00000538948:exon10:c.1311+1G>A;ENST00000582913:exon50:c.7646+1G>A;ENST00000503781:exon48:c.7440+1G>A;ENST00000580640:exon50:c.7515+1G>A)	.	.	0.999985532734767	0.936
18	10681658	G	A	18	10681661	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon47:c.C7440T:p.T2480T;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7515T:p.T2505T;ENSG00000154864:ENST00000285141:exon8:c.C816T:p.T272T;ENSG00000154864:ENST00000503781:exon47:c.C7440T:p.T2480T;ENSG00000154864:ENST00000538948:exon9:c.C1311T:p.T437T;ENSG00000154864:ENST00000302079:exon46:c.C7251T:p.T2417T;	0.0010558726333332	0.058
18	10681658	G	C	18	10681661	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon47:c.C7440G:p.T2480T;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7515G:p.T2505T;ENSG00000154864:ENST00000285141:exon8:c.C816G:p.T272T;ENSG00000154864:ENST00000503781:exon47:c.C7440G:p.T2480T;ENSG00000154864:ENST00000538948:exon9:c.C1311G:p.T437T;ENSG00000154864:ENST00000302079:exon46:c.C7251G:p.T2417T;	1.19002929765734E-4	0.136
18	10681658	G	T	18	10681661	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon47:c.C7440A:p.T2480T;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7515A:p.T2505T;ENSG00000154864:ENST00000285141:exon8:c.C816A:p.T272T;ENSG00000154864:ENST00000503781:exon47:c.C7440A:p.T2480T;ENSG00000154864:ENST00000538948:exon9:c.C1311A:p.T437T;ENSG00000154864:ENST00000302079:exon46:c.C7251A:p.T2417T;	8.99888810121114E-5	0.004
18	10681659	G	A	18	10681662	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7439T:p.T2480I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7514T:p.T2505I;ENSG00000154864:ENST00000285141:exon8:c.C815T:p.T272I;ENSG00000154864:ENST00000503781:exon47:c.C7439T:p.T2480I;ENSG00000154864:ENST00000538948:exon9:c.C1310T:p.T437I;ENSG00000154864:ENST00000302079:exon46:c.C7250T:p.T2417I;	0.1348954533212	0.292
18	10681659	G	C	18	10681662	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7439G:p.T2480S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7514G:p.T2505S;ENSG00000154864:ENST00000285141:exon8:c.C815G:p.T272S;ENSG00000154864:ENST00000503781:exon47:c.C7439G:p.T2480S;ENSG00000154864:ENST00000538948:exon9:c.C1310G:p.T437S;ENSG00000154864:ENST00000302079:exon46:c.C7250G:p.T2417S;	0.00574712584732232	0.102
18	10681659	G	T	18	10681662	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7439A:p.T2480N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7514A:p.T2505N;ENSG00000154864:ENST00000285141:exon8:c.C815A:p.T272N;ENSG00000154864:ENST00000503781:exon47:c.C7439A:p.T2480N;ENSG00000154864:ENST00000538948:exon9:c.C1310A:p.T437N;ENSG00000154864:ENST00000302079:exon46:c.C7250A:p.T2417N;	0.0193296455695741	0.228
18	10681660	T	A	18	10681663	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.A7438T:p.T2480S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.A7513T:p.T2505S;ENSG00000154864:ENST00000285141:exon8:c.A814T:p.T272S;ENSG00000154864:ENST00000503781:exon47:c.A7438T:p.T2480S;ENSG00000154864:ENST00000538948:exon9:c.A1309T:p.T437S;ENSG00000154864:ENST00000302079:exon46:c.A7249T:p.T2417S;	0.177196300537758	0.238
18	10681660	T	C	18	10681663	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.A7438G:p.T2480A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.A7513G:p.T2505A;ENSG00000154864:ENST00000285141:exon8:c.A814G:p.T272A;ENSG00000154864:ENST00000503781:exon47:c.A7438G:p.T2480A;ENSG00000154864:ENST00000538948:exon9:c.A1309G:p.T437A;ENSG00000154864:ENST00000302079:exon46:c.A7249G:p.T2417A;	0.00195068098103816	0.04
18	10681660	T	G	18	10681663	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.A7438C:p.T2480P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.A7513C:p.T2505P;ENSG00000154864:ENST00000285141:exon8:c.A814C:p.T272P;ENSG00000154864:ENST00000503781:exon47:c.A7438C:p.T2480P;ENSG00000154864:ENST00000538948:exon9:c.A1309C:p.T437P;ENSG00000154864:ENST00000302079:exon46:c.A7249C:p.T2417P;	1.43691471955582E-4	0.064
18	10681749	G	A	18	10681752	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7349T:p.P2450L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7424T:p.P2475L;ENSG00000154864:ENST00000285141:exon8:c.C725T:p.P242L;ENSG00000154864:ENST00000503781:exon47:c.C7349T:p.P2450L;ENSG00000154864:ENST00000538948:exon9:c.C1220T:p.P407L;ENSG00000154864:ENST00000302079:exon46:c.C7160T:p.P2387L;	0.975734464113204	0.854
18	10681749	G	C	18	10681752	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7349G:p.P2450R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7424G:p.P2475R;ENSG00000154864:ENST00000285141:exon8:c.C725G:p.P242R;ENSG00000154864:ENST00000503781:exon47:c.C7349G:p.P2450R;ENSG00000154864:ENST00000538948:exon9:c.C1220G:p.P407R;ENSG00000154864:ENST00000302079:exon46:c.C7160G:p.P2387R;	0.955251330285929	0.772
18	10681749	G	T	18	10681752	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7349A:p.P2450H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7424A:p.P2475H;ENSG00000154864:ENST00000285141:exon8:c.C725A:p.P242H;ENSG00000154864:ENST00000503781:exon47:c.C7349A:p.P2450H;ENSG00000154864:ENST00000538948:exon9:c.C1220A:p.P407H;ENSG00000154864:ENST00000302079:exon46:c.C7160A:p.P2387H;	0.985878690779257	0.864
18	10681750	G	A	18	10681753	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7348T:p.P2450S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7423T:p.P2475S;ENSG00000154864:ENST00000285141:exon8:c.C724T:p.P242S;ENSG00000154864:ENST00000503781:exon47:c.C7348T:p.P2450S;ENSG00000154864:ENST00000538948:exon9:c.C1219T:p.P407S;ENSG00000154864:ENST00000302079:exon46:c.C7159T:p.P2387S;	0.993684042046832	0.946
18	10681750	G	C	18	10681753	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7348G:p.P2450A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7423G:p.P2475A;ENSG00000154864:ENST00000285141:exon8:c.C724G:p.P242A;ENSG00000154864:ENST00000503781:exon47:c.C7348G:p.P2450A;ENSG00000154864:ENST00000538948:exon9:c.C1219G:p.P407A;ENSG00000154864:ENST00000302079:exon46:c.C7159G:p.P2387A;	0.934502187803617	0.71
18	10681750	G	T	18	10681753	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon47:c.C7348A:p.P2450T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon49:c.C7423A:p.P2475T;ENSG00000154864:ENST00000285141:exon8:c.C724A:p.P242T;ENSG00000154864:ENST00000503781:exon47:c.C7348A:p.P2450T;ENSG00000154864:ENST00000538948:exon9:c.C1219A:p.P407T;ENSG00000154864:ENST00000302079:exon46:c.C7159A:p.P2387T;	0.95013194986716	0.81
18	10681751	C	A	18	10681754	y	y	splicing	PIEZO2(NM_022068:exon48:c.7348-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7159-1G>T;ENST00000285141:exon9:c.724-1G>T;ENST00000538948:exon10:c.1219-1G>T;ENST00000582913:exon50:c.7554-1G>T;ENST00000503781:exon48:c.7348-1G>T;ENST00000580640:exon50:c.7423-1G>T)	.	.	0.999986675681007	0.932
18	10681751	C	G	18	10681754	y	y	splicing	PIEZO2(NM_022068:exon48:c.7348-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7159-1G>C;ENST00000285141:exon9:c.724-1G>C;ENST00000538948:exon10:c.1219-1G>C;ENST00000582913:exon50:c.7554-1G>C;ENST00000503781:exon48:c.7348-1G>C;ENST00000580640:exon50:c.7423-1G>C)	.	.	0.999986675681007	0.932
18	10681751	C	T	18	10681754	y	y	splicing	PIEZO2(NM_022068:exon48:c.7348-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7159-1G>A;ENST00000285141:exon9:c.724-1G>A;ENST00000538948:exon10:c.1219-1G>A;ENST00000582913:exon50:c.7554-1G>A;ENST00000503781:exon48:c.7348-1G>A;ENST00000580640:exon50:c.7423-1G>A)	.	.	0.999986675681007	0.932
18	10681752	T	A	18	10681755	y	y	splicing	PIEZO2(NM_022068:exon48:c.7348-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7159-2A>T;ENST00000285141:exon9:c.724-2A>T;ENST00000538948:exon10:c.1219-2A>T;ENST00000582913:exon50:c.7554-2A>T;ENST00000503781:exon48:c.7348-2A>T;ENST00000580640:exon50:c.7423-2A>T)	.	.	0.999989917668626	0.926
18	10681752	T	C	18	10681755	y	y	splicing	PIEZO2(NM_022068:exon48:c.7348-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7159-2A>G;ENST00000285141:exon9:c.724-2A>G;ENST00000538948:exon10:c.1219-2A>G;ENST00000582913:exon50:c.7554-2A>G;ENST00000503781:exon48:c.7348-2A>G;ENST00000580640:exon50:c.7423-2A>G)	.	.	0.999989917668626	0.926
18	10681752	T	G	18	10681755	y	y	splicing	PIEZO2(NM_022068:exon48:c.7348-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon47:c.7159-2A>C;ENST00000285141:exon9:c.724-2A>C;ENST00000538948:exon10:c.1219-2A>C;ENST00000582913:exon50:c.7554-2A>C;ENST00000503781:exon48:c.7348-2A>C;ENST00000580640:exon50:c.7423-2A>C)	.	.	0.999989917668626	0.926
18	10681753	G	A	18	10681756	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.233008123130924	0.176
18	10681753	G	C	18	10681756	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999226493793634	0.898
18	10681753	G	T	18	10681756	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.990625422352436	0.8
18	10681754	G	A	18	10681757	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.79107076424536E-5	0.002
18	10681754	G	C	18	10681757	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.6789569795777E-5	0.006
18	10681754	G	T	18	10681757	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.75649263551892E-5	0.004
18	10681755	A	C	18	10681758	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.953387249013685	0.748
18	10681755	A	G	18	10681758	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.103752338874169	0.344
18	10681755	A	T	18	10681758	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.975216840345781	0.724
18	10681756	A	C	18	10681759	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.731316637798322	0.508
18	10681756	A	G	18	10681759	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0865591148569009	0.418
18	10681756	A	T	18	10681759	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.900628488222861	0.496
18	10681757	A	C	18	10681760	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0275304535128426	0.168
18	10681757	A	G	18	10681760	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00105435165695338	0.042
18	10681757	A	T	18	10681760	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.109027438061994	0.276
18	10681758	A	C	18	10681761	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.1399775351552	0.364
18	10681758	A	G	18	10681761	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0417610499517694	0.504
18	10681758	A	T	18	10681761	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.403328784490397	0.452
18	10681759	C	A	18	10681762	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.57232976765493E-4	0.19
18	10681759	C	G	18	10681762	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.81207487298718E-4	0.19
18	10681759	C	T	18	10681762	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.4611038327737E-4	0.144
18	10681760	A	C	18	10681763	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.481656972416584	0.464
18	10681760	A	G	18	10681763	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0916440164463933	0.346
18	10681760	A	T	18	10681763	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999971663899987	0.954
18	10681761	A	C	18	10681764	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00331225034363385	0.264
18	10681761	A	G	18	10681764	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.84691794272667E-4	0.19
18	10681761	A	T	18	10681764	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00412996800921476	0.388
18	10681762	A	C	18	10681765	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.0749848007196E-4	0.146
18	10681762	A	G	18	10681765	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.04525164933604E-4	0.052
18	10681762	A	T	18	10681765	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00121347091210369	0.152
18	10682093	G	A	18	10682096	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.3877302405135E-4	0.0
18	10682093	G	C	18	10682096	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.55598465297678E-4	0.008
18	10682093	G	T	18	10682096	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.55598465297678E-4	0.01
18	10682094	A	C	18	10682097	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.67106545568942E-5	0.002
18	10682094	A	G	18	10682097	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.67106545568942E-5	0.0
18	10682094	A	T	18	10682097	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.67106545568942E-5	0.0
18	10682095	G	A	18	10682098	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.06488069256303E-5	0.054
18	10682095	G	C	18	10682098	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.38908019352392E-5	0.064
18	10682095	G	T	18	10682098	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.48015567217522E-5	0.024
18	10682096	A	C	18	10682099	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.40580202392539E-4	0.054
18	10682096	A	G	18	10682099	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.33916559130964E-4	0.07
18	10682096	A	T	18	10682099	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.01310340464003E-4	0.008
18	10682097	T	A	18	10682100	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999299135761523	0.942
18	10682097	T	C	18	10682100	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999122851069374	0.954
18	10682097	T	G	18	10682100	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.984194229487433	0.788
18	10682098	C	A	18	10682101	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.593500709339732	0.486
18	10682098	C	G	18	10682101	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0831843868445611	0.428
18	10682098	C	T	18	10682101	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.15490569088812E-5	0.082
18	10682099	A	C	18	10682102	y	y	splicing	PIEZO2(NM_022068:exon47:c.7347+2T>G)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1218+2T>G;ENST00000582913:exon49:c.7553+2T>G;ENST00000503781:exon47:c.7347+2T>G;ENST00000580640:exon49:c.7422+2T>G)	.	.	0.999993143195943	0.934
18	10682099	A	G	18	10682102	y	y	splicing	PIEZO2(NM_022068:exon47:c.7347+2T>C)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1218+2T>C;ENST00000582913:exon49:c.7553+2T>C;ENST00000503781:exon47:c.7347+2T>C;ENST00000580640:exon49:c.7422+2T>C)	.	.	0.999898817561442	0.874
18	10682099	A	T	18	10682102	y	y	splicing	PIEZO2(NM_022068:exon47:c.7347+2T>A)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1218+2T>A;ENST00000582913:exon49:c.7553+2T>A;ENST00000503781:exon47:c.7347+2T>A;ENST00000580640:exon49:c.7422+2T>A)	.	.	0.999993143195943	0.934
18	10682100	C	A	18	10682103	y	y	splicing	PIEZO2(NM_022068:exon47:c.7347+1G>T)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1218+1G>T;ENST00000582913:exon49:c.7553+1G>T;ENST00000503781:exon47:c.7347+1G>T;ENST00000580640:exon49:c.7422+1G>T)	.	.	0.999987595831951	0.932
18	10682100	C	G	18	10682103	y	y	splicing	PIEZO2(NM_022068:exon47:c.7347+1G>C)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1218+1G>C;ENST00000582913:exon49:c.7553+1G>C;ENST00000503781:exon47:c.7347+1G>C;ENST00000580640:exon49:c.7422+1G>C)	.	.	0.999987595831951	0.932
18	10682100	C	T	18	10682103	y	y	splicing	PIEZO2(NM_022068:exon47:c.7347+1G>A)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1218+1G>A;ENST00000582913:exon49:c.7553+1G>A;ENST00000503781:exon47:c.7347+1G>A;ENST00000580640:exon49:c.7422+1G>A)	.	.	0.999987595831951	0.932
18	10682101	C	A	18	10682104	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.G7347T:p.Q2449H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.G7422T:p.Q2474H;ENSG00000154864:ENST00000503781:exon46:c.G7347T:p.Q2449H;ENSG00000154864:ENST00000538948:exon8:c.G1218T:p.Q406H;	0.999993270776974	0.998
18	10682101	C	G	18	10682104	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.G7347C:p.Q2449H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.G7422C:p.Q2474H;ENSG00000154864:ENST00000503781:exon46:c.G7347C:p.Q2449H;ENSG00000154864:ENST00000538948:exon8:c.G1218C:p.Q406H;	0.999997008979846	0.998
18	10682101	C	T	18	10682104	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon46:c.G7347A:p.Q2449Q;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.G7422A:p.Q2474Q;ENSG00000154864:ENST00000503781:exon46:c.G7347A:p.Q2449Q;ENSG00000154864:ENST00000538948:exon8:c.G1218A:p.Q406Q;	0.999987438748755	0.998
18	10682102	T	A	18	10682105	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.A7346T:p.Q2449L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.A7421T:p.Q2474L;ENSG00000154864:ENST00000503781:exon46:c.A7346T:p.Q2449L;ENSG00000154864:ENST00000538948:exon8:c.A1217T:p.Q406L;	0.999953562162869	0.994
18	10682102	T	C	18	10682105	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.A7346G:p.Q2449R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.A7421G:p.Q2474R;ENSG00000154864:ENST00000503781:exon46:c.A7346G:p.Q2449R;ENSG00000154864:ENST00000538948:exon8:c.A1217G:p.Q406R;	0.999965834051414	0.994
18	10682102	T	G	18	10682105	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.A7346C:p.Q2449P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.A7421C:p.Q2474P;ENSG00000154864:ENST00000503781:exon46:c.A7346C:p.Q2449P;ENSG00000154864:ENST00000538948:exon8:c.A1217C:p.Q406P;	0.999941298921673	0.984
18	10682103	G	A	18	10682106	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon46:c.C7345T:p.Q2449X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon48:c.C7420T:p.Q2474X;ENSG00000154864:ENST00000503781:exon46:c.C7345T:p.Q2449X;ENSG00000154864:ENST00000538948:exon8:c.C1216T:p.Q406X;	0.999603883774024	0.964
18	10682103	G	C	18	10682106	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.C7345G:p.Q2449E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.C7420G:p.Q2474E;ENSG00000154864:ENST00000503781:exon46:c.C7345G:p.Q2449E;ENSG00000154864:ENST00000538948:exon8:c.C1216G:p.Q406E;	0.0758345343243543	0.33
18	10682103	G	T	18	10682106	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.C7345A:p.Q2449K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.C7420A:p.Q2474K;ENSG00000154864:ENST00000503781:exon46:c.C7345A:p.Q2449K;ENSG00000154864:ENST00000538948:exon8:c.C1216A:p.Q406K;	0.888335015192883	0.768
18	10682288	C	A	18	10682291	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.G7160T:p.R2387I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.G7235T:p.R2412I;ENSG00000154864:ENST00000503781:exon46:c.G7160T:p.R2387I;ENSG00000154864:ENST00000538948:exon8:c.G1031T:p.R344I;	0.972447002082124	0.816
18	10682288	C	G	18	10682291	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.G7160C:p.R2387T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.G7235C:p.R2412T;ENSG00000154864:ENST00000503781:exon46:c.G7160C:p.R2387T;ENSG00000154864:ENST00000538948:exon8:c.G1031C:p.R344T;	0.979407672170675	0.738
18	10682288	C	T	18	10682291	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.G7160A:p.R2387K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.G7235A:p.R2412K;ENSG00000154864:ENST00000503781:exon46:c.G7160A:p.R2387K;ENSG00000154864:ENST00000538948:exon8:c.G1031A:p.R344K;	0.915113991189213	0.594
18	10682289	T	A	18	10682292	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon46:c.A7159T:p.R2387X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon48:c.A7234T:p.R2412X;ENSG00000154864:ENST00000503781:exon46:c.A7159T:p.R2387X;ENSG00000154864:ENST00000538948:exon8:c.A1030T:p.R344X;	0.3805979527929	0.504
18	10682289	T	C	18	10682292	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon46:c.A7159G:p.R2387G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.A7234G:p.R2412G;ENSG00000154864:ENST00000503781:exon46:c.A7159G:p.R2387G;ENSG00000154864:ENST00000538948:exon8:c.A1030G:p.R344G;	0.376184689536238	0.446
18	10682289	T	G	18	10682292	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon46:c.A7159C:p.R2387R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon48:c.A7234C:p.R2412R;ENSG00000154864:ENST00000503781:exon46:c.A7159C:p.R2387R;ENSG00000154864:ENST00000538948:exon8:c.A1030C:p.R344R;	0.0792101704416631	0.226
18	10682290	C	A	18	10682293	y	y	splicing	PIEZO2(NM_022068:exon47:c.7159-1G>T)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1030-1G>T;ENST00000582913:exon49:c.7365-1G>T;ENST00000503781:exon47:c.7159-1G>T;ENST00000580640:exon49:c.7234-1G>T)	.	.	0.999986675681007	0.946
18	10682290	C	G	18	10682293	y	y	splicing	PIEZO2(NM_022068:exon47:c.7159-1G>C)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1030-1G>C;ENST00000582913:exon49:c.7365-1G>C;ENST00000503781:exon47:c.7159-1G>C;ENST00000580640:exon49:c.7234-1G>C)	.	.	0.999986675681007	0.946
18	10682290	C	T	18	10682293	y	y	splicing	PIEZO2(NM_022068:exon47:c.7159-1G>A)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1030-1G>A;ENST00000582913:exon49:c.7365-1G>A;ENST00000503781:exon47:c.7159-1G>A;ENST00000580640:exon49:c.7234-1G>A)	.	.	0.999986675681007	0.946
18	10682291	T	A	18	10682294	y	y	splicing	PIEZO2(NM_022068:exon47:c.7159-2A>T)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1030-2A>T;ENST00000582913:exon49:c.7365-2A>T;ENST00000503781:exon47:c.7159-2A>T;ENST00000580640:exon49:c.7234-2A>T)	.	.	0.999989917668626	0.94
18	10682291	T	C	18	10682294	y	y	splicing	PIEZO2(NM_022068:exon47:c.7159-2A>G)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1030-2A>G;ENST00000582913:exon49:c.7365-2A>G;ENST00000503781:exon47:c.7159-2A>G;ENST00000580640:exon49:c.7234-2A>G)	.	.	0.999989917668626	0.94
18	10682291	T	G	18	10682294	y	y	splicing	PIEZO2(NM_022068:exon47:c.7159-2A>C)	.	.	splicing	ENSG00000154864(ENST00000538948:exon9:c.1030-2A>C;ENST00000582913:exon49:c.7365-2A>C;ENST00000503781:exon47:c.7159-2A>C;ENST00000580640:exon49:c.7234-2A>C)	.	.	0.999989917668626	0.94
18	10682292	G	A	18	10682295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.9800103377074	0.326
18	10682292	G	C	18	10682295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999958707554536	0.986
18	10682292	G	T	18	10682295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999441532117529	0.958
18	10682293	C	A	18	10682296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.61535600834223E-5	0.004
18	10682293	C	G	18	10682296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.3552823911675E-4	0.01
18	10682293	C	T	18	10682296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.45369965011755E-4	0.014
18	10682294	A	C	18	10682297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996050814271395	0.916
18	10682294	A	G	18	10682297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.440425662992573	0.332
18	10682294	A	T	18	10682297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999714303959095	0.956
18	10682295	A	C	18	10682298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.471542315837766	0.746
18	10682295	A	G	18	10682298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.64358249167368E-4	0.08
18	10682295	A	T	18	10682298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.787100442393756	0.754
18	10682296	C	A	18	10682299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.55916787268272E-5	0.03
18	10682296	C	G	18	10682299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.43798814250928E-4	0.134
18	10682296	C	T	18	10682299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.44039531060595E-4	0.04
18	10682297	A	C	18	10682300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.323993661593721	0.27
18	10682297	A	G	18	10682300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.17181715363991E-5	0.042
18	10682297	A	T	18	10682300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999966807388003	0.942
18	10682298	G	A	18	10682301	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.20889608086638E-4	0.302
18	10682298	G	C	18	10682301	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.43414706195845E-4	0.234
18	10682298	G	T	18	10682301	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.99705448541264E-4	0.326
18	10682299	A	C	18	10682302	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.979661924022746	0.75
18	10682299	A	G	18	10682302	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00917154062918616	0.178
18	10682299	A	T	18	10682302	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.991527543915222	0.766
18	10682300	G	A	18	10682303	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.23165739090931E-4	0.222
18	10682300	G	C	18	10682303	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.54867433653429E-4	0.136
18	10682300	G	T	18	10682303	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00144624559492826	0.3
18	10682301	A	C	18	10682304	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.807915404482507	0.376
18	10682301	A	G	18	10682304	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.00302478034484E-4	0.158
18	10682301	A	T	18	10682304	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.753911579374357	0.372
18	10689645	C	A	18	10689647	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.35428655471156E-5	0.0
18	10689645	C	G	18	10689647	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.07014835428848E-5	0.0
18	10689645	C	T	18	10689647	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.35428655471156E-5	0.0
18	10689646	T	A	18	10689648	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.60584860909293E-4	0.0
18	10689646	T	C	18	10689648	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.5987257889541E-5	0.0
18	10689646	T	G	18	10689648	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.5987257889541E-5	0.0
18	10689647	T	A	18	10689649	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.85542662324598E-5	0.01
18	10689647	T	C	18	10689649	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.98516205935615E-5	0.0
18	10689647	T	G	18	10689649	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.05341995387461E-4	0.008
18	10689648	C	A	18	10689650	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.564170929636119	0.502
18	10689648	C	G	18	10689650	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.282616104867003	0.528
18	10689648	C	T	18	10689650	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.704105090652012	0.568
18	10689649	T	A	18	10689651	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.091923914048592	0.364
18	10689649	T	C	18	10689651	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.117243519048089	0.382
18	10689649	T	G	18	10689651	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.085804292787513	0.36
18	10689650	T	A	18	10689652	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.989730662165696	0.692
18	10689650	T	C	18	10689652	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0262572897144593	0.19
18	10689650	T	G	18	10689652	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.942607372726633	0.632
18	10689651	A	C	18	10689653	y	y	splicing	PIEZO2(NM_022068:exon46:c.7158+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7158+2T>G;ENST00000285141:exon8:c.723+2T>G;ENST00000538948:exon8:c.1029+2T>G;ENST00000582913:exon48:c.7364+2T>G;ENST00000503781:exon46:c.7158+2T>G;ENST00000580640:exon48:c.7233+2T>G)	.	.	0.999988247793601	0.926
18	10689651	A	G	18	10689653	y	y	splicing	PIEZO2(NM_022068:exon46:c.7158+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7158+2T>C;ENST00000285141:exon8:c.723+2T>C;ENST00000538948:exon8:c.1029+2T>C;ENST00000582913:exon48:c.7364+2T>C;ENST00000503781:exon46:c.7158+2T>C;ENST00000580640:exon48:c.7233+2T>C)	.	.	0.991245725732999	0.628
18	10689651	A	T	18	10689653	y	y	splicing	PIEZO2(NM_022068:exon46:c.7158+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7158+2T>A;ENST00000285141:exon8:c.723+2T>A;ENST00000538948:exon8:c.1029+2T>A;ENST00000582913:exon48:c.7364+2T>A;ENST00000503781:exon46:c.7158+2T>A;ENST00000580640:exon48:c.7233+2T>A)	.	.	0.999988247793601	0.926
18	10689652	C	A	18	10689654	y	y	splicing	PIEZO2(NM_022068:exon46:c.7158+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7158+1G>T;ENST00000285141:exon8:c.723+1G>T;ENST00000538948:exon8:c.1029+1G>T;ENST00000582913:exon48:c.7364+1G>T;ENST00000503781:exon46:c.7158+1G>T;ENST00000580640:exon48:c.7233+1G>T)	.	.	0.999985532734767	0.938
18	10689652	C	G	18	10689654	y	y	splicing	PIEZO2(NM_022068:exon46:c.7158+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7158+1G>C;ENST00000285141:exon8:c.723+1G>C;ENST00000538948:exon8:c.1029+1G>C;ENST00000582913:exon48:c.7364+1G>C;ENST00000503781:exon46:c.7158+1G>C;ENST00000580640:exon48:c.7233+1G>C)	.	.	0.999985532734767	0.938
18	10689652	C	T	18	10689654	y	y	splicing	PIEZO2(NM_022068:exon46:c.7158+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7158+1G>A;ENST00000285141:exon8:c.723+1G>A;ENST00000538948:exon8:c.1029+1G>A;ENST00000582913:exon48:c.7364+1G>A;ENST00000503781:exon46:c.7158+1G>A;ENST00000580640:exon48:c.7233+1G>A)	.	.	0.999985532734767	0.926
18	10689653	C	A	18	10689655	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.G7158T:p.K2386N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.G7233T:p.K2411N;ENSG00000154864:ENST00000285141:exon7:c.G723T:p.K241N;ENSG00000154864:ENST00000503781:exon45:c.G7158T:p.K2386N;ENSG00000154864:ENST00000538948:exon7:c.G1029T:p.K343N;ENSG00000154864:ENST00000302079:exon45:c.G7158T:p.K2386N;	0.998549327103717	0.886
18	10689653	C	G	18	10689655	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.G7158C:p.K2386N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.G7233C:p.K2411N;ENSG00000154864:ENST00000285141:exon7:c.G723C:p.K241N;ENSG00000154864:ENST00000503781:exon45:c.G7158C:p.K2386N;ENSG00000154864:ENST00000538948:exon7:c.G1029C:p.K343N;ENSG00000154864:ENST00000302079:exon45:c.G7158C:p.K2386N;	0.997847055758077	0.836
18	10689653	C	T	18	10689655	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon45:c.G7158A:p.K2386K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.G7233A:p.K2411K;ENSG00000154864:ENST00000285141:exon7:c.G723A:p.K241K;ENSG00000154864:ENST00000503781:exon45:c.G7158A:p.K2386K;ENSG00000154864:ENST00000538948:exon7:c.G1029A:p.K343K;ENSG00000154864:ENST00000302079:exon45:c.G7158A:p.K2386K;	0.880242240663931	0.722
18	10689654	T	A	18	10689656	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.A7157T:p.K2386M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.A7232T:p.K2411M;ENSG00000154864:ENST00000285141:exon7:c.A722T:p.K241M;ENSG00000154864:ENST00000503781:exon45:c.A7157T:p.K2386M;ENSG00000154864:ENST00000538948:exon7:c.A1028T:p.K343M;ENSG00000154864:ENST00000302079:exon45:c.A7157T:p.K2386M;	0.993681125527091	0.738
18	10689654	T	C	18	10689656	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.A7157G:p.K2386R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.A7232G:p.K2411R;ENSG00000154864:ENST00000285141:exon7:c.A722G:p.K241R;ENSG00000154864:ENST00000503781:exon45:c.A7157G:p.K2386R;ENSG00000154864:ENST00000538948:exon7:c.A1028G:p.K343R;ENSG00000154864:ENST00000302079:exon45:c.A7157G:p.K2386R;	0.998069464027469	0.966
18	10689654	T	G	18	10689656	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.A7157C:p.K2386T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.A7232C:p.K2411T;ENSG00000154864:ENST00000285141:exon7:c.A722C:p.K241T;ENSG00000154864:ENST00000503781:exon45:c.A7157C:p.K2386T;ENSG00000154864:ENST00000538948:exon7:c.A1028C:p.K343T;ENSG00000154864:ENST00000302079:exon45:c.A7157C:p.K2386T;	0.990949290733609	0.926
18	10689655	T	A	18	10689657	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon45:c.A7156T:p.K2386X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon47:c.A7231T:p.K2411X;ENSG00000154864:ENST00000285141:exon7:c.A721T:p.K241X;ENSG00000154864:ENST00000503781:exon45:c.A7156T:p.K2386X;ENSG00000154864:ENST00000538948:exon7:c.A1027T:p.K343X;ENSG00000154864:ENST00000302079:exon45:c.A7156T:p.K2386X;	0.955386144020996	0.666
18	10689655	T	C	18	10689657	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.A7156G:p.K2386E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.A7231G:p.K2411E;ENSG00000154864:ENST00000285141:exon7:c.A721G:p.K241E;ENSG00000154864:ENST00000503781:exon45:c.A7156G:p.K2386E;ENSG00000154864:ENST00000538948:exon7:c.A1027G:p.K343E;ENSG00000154864:ENST00000302079:exon45:c.A7156G:p.K2386E;	0.1507647493041	0.382
18	10689655	T	G	18	10689657	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.A7156C:p.K2386Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.A7231C:p.K2411Q;ENSG00000154864:ENST00000285141:exon7:c.A721C:p.K241Q;ENSG00000154864:ENST00000503781:exon45:c.A7156C:p.K2386Q;ENSG00000154864:ENST00000538948:exon7:c.A1027C:p.K343Q;ENSG00000154864:ENST00000302079:exon45:c.A7156C:p.K2386Q;	0.676790197180525	0.59
18	10689799	A	C	18	10689801	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.T7012G:p.F2338V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.T7087G:p.F2363V;ENSG00000154864:ENST00000285141:exon7:c.T577G:p.F193V;ENSG00000154864:ENST00000503781:exon45:c.T7012G:p.F2338V;ENSG00000154864:ENST00000538948:exon7:c.T883G:p.F295V;ENSG00000154864:ENST00000302079:exon45:c.T7012G:p.F2338V;	0.508848383701073	0.356
18	10689799	A	G	18	10689801	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.T7012C:p.F2338L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.T7087C:p.F2363L;ENSG00000154864:ENST00000285141:exon7:c.T577C:p.F193L;ENSG00000154864:ENST00000503781:exon45:c.T7012C:p.F2338L;ENSG00000154864:ENST00000538948:exon7:c.T883C:p.F295L;ENSG00000154864:ENST00000302079:exon45:c.T7012C:p.F2338L;	0.749686504353593	0.48
18	10689799	A	T	18	10689801	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon45:c.T7012A:p.F2338I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.T7087A:p.F2363I;ENSG00000154864:ENST00000285141:exon7:c.T577A:p.F193I;ENSG00000154864:ENST00000503781:exon45:c.T7012A:p.F2338I;ENSG00000154864:ENST00000538948:exon7:c.T883A:p.F295I;ENSG00000154864:ENST00000302079:exon45:c.T7012A:p.F2338I;	0.717204551355639	0.448
18	10689800	C	A	18	10689802	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon45:c.G7011T:p.G2337G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.G7086T:p.G2362G;ENSG00000154864:ENST00000285141:exon7:c.G576T:p.G192G;ENSG00000154864:ENST00000503781:exon45:c.G7011T:p.G2337G;ENSG00000154864:ENST00000538948:exon7:c.G882T:p.G294G;ENSG00000154864:ENST00000302079:exon45:c.G7011T:p.G2337G;	0.158257171725887	0.312
18	10689800	C	G	18	10689802	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon45:c.G7011C:p.G2337G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.G7086C:p.G2362G;ENSG00000154864:ENST00000285141:exon7:c.G576C:p.G192G;ENSG00000154864:ENST00000503781:exon45:c.G7011C:p.G2337G;ENSG00000154864:ENST00000538948:exon7:c.G882C:p.G294G;ENSG00000154864:ENST00000302079:exon45:c.G7011C:p.G2337G;	0.0409295326753647	0.29
18	10689800	C	T	18	10689802	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon45:c.G7011A:p.G2337G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon47:c.G7086A:p.G2362G;ENSG00000154864:ENST00000285141:exon7:c.G576A:p.G192G;ENSG00000154864:ENST00000503781:exon45:c.G7011A:p.G2337G;ENSG00000154864:ENST00000538948:exon7:c.G882A:p.G294G;ENSG00000154864:ENST00000302079:exon45:c.G7011A:p.G2337G;	0.00496893160469431	0.12
18	10689801	C	A	18	10689803	y	y	splicing	PIEZO2(NM_022068:exon46:c.7011-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7011-1G>T;ENST00000285141:exon8:c.576-1G>T;ENST00000538948:exon8:c.882-1G>T;ENST00000582913:exon48:c.7217-1G>T;ENST00000503781:exon46:c.7011-1G>T;ENST00000580640:exon48:c.7086-1G>T)	.	.	0.999985532734767	0.948
18	10689801	C	G	18	10689803	y	y	splicing	PIEZO2(NM_022068:exon46:c.7011-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7011-1G>C;ENST00000285141:exon8:c.576-1G>C;ENST00000538948:exon8:c.882-1G>C;ENST00000582913:exon48:c.7217-1G>C;ENST00000503781:exon46:c.7011-1G>C;ENST00000580640:exon48:c.7086-1G>C)	.	.	0.999985532734767	0.948
18	10689801	C	T	18	10689803	y	y	splicing	PIEZO2(NM_022068:exon46:c.7011-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7011-1G>A;ENST00000285141:exon8:c.576-1G>A;ENST00000538948:exon8:c.882-1G>A;ENST00000582913:exon48:c.7217-1G>A;ENST00000503781:exon46:c.7011-1G>A;ENST00000580640:exon48:c.7086-1G>A)	.	.	0.999985532734767	0.948
18	10689802	T	A	18	10689804	y	y	splicing	PIEZO2(NM_022068:exon46:c.7011-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7011-2A>T;ENST00000285141:exon8:c.576-2A>T;ENST00000538948:exon8:c.882-2A>T;ENST00000582913:exon48:c.7217-2A>T;ENST00000503781:exon46:c.7011-2A>T;ENST00000580640:exon48:c.7086-2A>T)	.	.	0.999988247793601	0.946
18	10689802	T	C	18	10689804	y	y	splicing	PIEZO2(NM_022068:exon46:c.7011-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7011-2A>G;ENST00000285141:exon8:c.576-2A>G;ENST00000538948:exon8:c.882-2A>G;ENST00000582913:exon48:c.7217-2A>G;ENST00000503781:exon46:c.7011-2A>G;ENST00000580640:exon48:c.7086-2A>G)	.	.	0.999978952611685	0.942
18	10689802	T	G	18	10689804	y	y	splicing	PIEZO2(NM_022068:exon46:c.7011-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon46:c.7011-2A>C;ENST00000285141:exon8:c.576-2A>C;ENST00000538948:exon8:c.882-2A>C;ENST00000582913:exon48:c.7217-2A>C;ENST00000503781:exon46:c.7011-2A>C;ENST00000580640:exon48:c.7086-2A>C)	.	.	0.999983636037506	0.944
18	10689803	G	A	18	10689805	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.03360536027654E-4	0.03
18	10689803	G	C	18	10689805	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997840233201845	0.88
18	10689803	G	T	18	10689805	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.951961047350253	0.644
18	10689804	G	A	18	10689806	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.78356012349155E-5	0.0
18	10689804	G	C	18	10689806	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.33873289683761E-5	0.0
18	10689804	G	T	18	10689806	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.56900591106981E-5	0.0
18	10689805	C	A	18	10689807	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.05993478110945E-4	0.068
18	10689805	C	G	18	10689807	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.00125137694863E-4	0.004
18	10689805	C	T	18	10689807	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.63465770835267E-4	0.022
18	10689806	A	C	18	10689808	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00630679912705025	0.322
18	10689806	A	G	18	10689808	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.9224618219227E-5	0.006
18	10689806	A	T	18	10689808	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999936475054487	0.928
18	10689807	G	A	18	10689809	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.88571821628992E-4	0.05
18	10689807	G	C	18	10689809	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00718906194199301	0.122
18	10689807	G	T	18	10689809	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0186823015436269	0.144
18	10689808	G	A	18	10689810	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.00798529161316E-4	0.006
18	10689808	G	C	18	10689810	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00735808287234758	0.1
18	10689808	G	T	18	10689810	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00570828240300736	0.152
18	10689809	A	C	18	10689811	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0422523981838321	0.436
18	10689809	A	G	18	10689811	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0100303852759869	0.096
18	10689809	A	T	18	10689811	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.766651709957406	0.608
18	10689810	A	C	18	10689812	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00390390504304201	0.144
18	10689810	A	G	18	10689812	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.22695127491524E-4	0.026
18	10689810	A	T	18	10689812	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0153777084537016	0.15
18	10689811	A	C	18	10689813	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.151854231955471	0.3
18	10689811	A	G	18	10689813	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0015954103249595	0.032
18	10689811	A	T	18	10689813	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.328819189053984	0.31
18	10689812	C	A	18	10689814	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.44620434336155E-4	0.018
18	10689812	C	G	18	10689814	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.45874613063248E-4	0.014
18	10689812	C	T	18	10689814	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00111816907167938	0.1
18	10691215	C	A	18	10691217	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.41284838374582E-4	0.03
18	10691215	C	G	18	10691217	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.13265907200378E-5	0.0
18	10691215	C	T	18	10691217	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.41284838374582E-4	0.03
18	10691216	G	A	18	10691218	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.78302730549717E-5	0.0
18	10691216	G	C	18	10691218	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.78302730549717E-5	0.002
18	10691216	G	T	18	10691218	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.78302730549717E-5	0.0
18	10691217	T	A	18	10691219	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.90821263418264E-5	0.04
18	10691217	T	C	18	10691219	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.1792612310896E-4	0.012
18	10691217	T	G	18	10691219	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.75380042058568E-4	0.04
18	10691218	C	A	18	10691220	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999975061399588	0.994
18	10691218	C	G	18	10691220	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999975061399588	1.0
18	10691218	C	T	18	10691220	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999975201033199	1.0
18	10691219	C	A	18	10691221	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.25185269427351E-4	0.05
18	10691219	C	G	18	10691221	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.63443334895102E-4	0.16
18	10691219	C	T	18	10691221	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03344897478079E-4	0.034
18	10691220	T	A	18	10691222	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999538815111365	0.814
18	10691220	T	C	18	10691222	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.880551882189601	0.664
18	10691220	T	G	18	10691222	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999658330324843	0.846
18	10691221	A	C	18	10691223	y	y	splicing	PIEZO2(NM_022068:exon45:c.7010+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.7010+2T>G;ENST00000285141:exon7:c.575+2T>G;ENST00000538948:exon7:c.881+2T>G;ENST00000582913:exon47:c.7216+2T>G;ENST00000503781:exon45:c.7010+2T>G;ENST00000580640:exon47:c.7085+2T>G)	.	.	0.999988247793601	0.928
18	10691221	A	G	18	10691223	y	y	splicing	PIEZO2(NM_022068:exon45:c.7010+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.7010+2T>C;ENST00000285141:exon7:c.575+2T>C;ENST00000538948:exon7:c.881+2T>C;ENST00000582913:exon47:c.7216+2T>C;ENST00000503781:exon45:c.7010+2T>C;ENST00000580640:exon47:c.7085+2T>C)	.	.	0.99991522016916	0.888
18	10691221	A	T	18	10691223	y	y	splicing	PIEZO2(NM_022068:exon45:c.7010+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.7010+2T>A;ENST00000285141:exon7:c.575+2T>A;ENST00000538948:exon7:c.881+2T>A;ENST00000582913:exon47:c.7216+2T>A;ENST00000503781:exon45:c.7010+2T>A;ENST00000580640:exon47:c.7085+2T>A)	.	.	0.999988247793601	0.928
18	10691222	C	A	18	10691224	y	y	splicing	PIEZO2(NM_022068:exon45:c.7010+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.7010+1G>T;ENST00000285141:exon7:c.575+1G>T;ENST00000538948:exon7:c.881+1G>T;ENST00000582913:exon47:c.7216+1G>T;ENST00000503781:exon45:c.7010+1G>T;ENST00000580640:exon47:c.7085+1G>T)	.	.	0.999990361384395	0.936
18	10691222	C	G	18	10691224	y	y	splicing	PIEZO2(NM_022068:exon45:c.7010+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.7010+1G>C;ENST00000285141:exon7:c.575+1G>C;ENST00000538948:exon7:c.881+1G>C;ENST00000582913:exon47:c.7216+1G>C;ENST00000503781:exon45:c.7010+1G>C;ENST00000580640:exon47:c.7085+1G>C)	.	.	0.999990361384395	0.936
18	10691222	C	T	18	10691224	y	y	splicing	PIEZO2(NM_022068:exon45:c.7010+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.7010+1G>A;ENST00000285141:exon7:c.575+1G>A;ENST00000538948:exon7:c.881+1G>A;ENST00000582913:exon47:c.7216+1G>A;ENST00000503781:exon45:c.7010+1G>A;ENST00000580640:exon47:c.7085+1G>A)	.	.	0.999990361384395	0.936
18	10691223	C	A	18	10691225	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.G7010T:p.G2337V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G7085T:p.G2362V;ENSG00000154864:ENST00000285141:exon6:c.G575T:p.G192V;ENSG00000154864:ENST00000503781:exon44:c.G7010T:p.G2337V;ENSG00000154864:ENST00000538948:exon6:c.G881T:p.G294V;ENSG00000154864:ENST00000302079:exon44:c.G7010T:p.G2337V;	0.999993018555097	0.986
18	10691223	C	G	18	10691225	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.G7010C:p.G2337A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G7085C:p.G2362A;ENSG00000154864:ENST00000285141:exon6:c.G575C:p.G192A;ENSG00000154864:ENST00000503781:exon44:c.G7010C:p.G2337A;ENSG00000154864:ENST00000538948:exon6:c.G881C:p.G294A;ENSG00000154864:ENST00000302079:exon44:c.G7010C:p.G2337A;	0.999997001934645	1.0
18	10691223	C	T	18	10691225	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.G7010A:p.G2337E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G7085A:p.G2362E;ENSG00000154864:ENST00000285141:exon6:c.G575A:p.G192E;ENSG00000154864:ENST00000503781:exon44:c.G7010A:p.G2337E;ENSG00000154864:ENST00000538948:exon6:c.G881A:p.G294E;ENSG00000154864:ENST00000302079:exon44:c.G7010A:p.G2337E;	0.999994222381975	1.0
18	10691224	C	A	18	10691226	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.G7009T:p.G2337W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G7084T:p.G2362W;ENSG00000154864:ENST00000285141:exon6:c.G574T:p.G192W;ENSG00000154864:ENST00000503781:exon44:c.G7009T:p.G2337W;ENSG00000154864:ENST00000538948:exon6:c.G880T:p.G294W;ENSG00000154864:ENST00000302079:exon44:c.G7009T:p.G2337W;	0.994247269657128	0.898
18	10691224	C	G	18	10691226	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.G7009C:p.G2337R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G7084C:p.G2362R;ENSG00000154864:ENST00000285141:exon6:c.G574C:p.G192R;ENSG00000154864:ENST00000503781:exon44:c.G7009C:p.G2337R;ENSG00000154864:ENST00000538948:exon6:c.G880C:p.G294R;ENSG00000154864:ENST00000302079:exon44:c.G7009C:p.G2337R;	0.993564327566507	0.866
18	10691224	C	T	18	10691226	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.G7009A:p.G2337R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G7084A:p.G2362R;ENSG00000154864:ENST00000285141:exon6:c.G574A:p.G192R;ENSG00000154864:ENST00000503781:exon44:c.G7009A:p.G2337R;ENSG00000154864:ENST00000538948:exon6:c.G880A:p.G294R;ENSG00000154864:ENST00000302079:exon44:c.G7009A:p.G2337R;	0.974865636552299	0.638
18	10691225	T	A	18	10691227	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.A7008T:p.Q2336H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.A7083T:p.Q2361H;ENSG00000154864:ENST00000285141:exon6:c.A573T:p.Q191H;ENSG00000154864:ENST00000503781:exon44:c.A7008T:p.Q2336H;ENSG00000154864:ENST00000538948:exon6:c.A879T:p.Q293H;ENSG00000154864:ENST00000302079:exon44:c.A7008T:p.Q2336H;	0.682654830933743	0.458
18	10691225	T	C	18	10691227	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon44:c.A7008G:p.Q2336Q;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.A7083G:p.Q2361Q;ENSG00000154864:ENST00000285141:exon6:c.A573G:p.Q191Q;ENSG00000154864:ENST00000503781:exon44:c.A7008G:p.Q2336Q;ENSG00000154864:ENST00000538948:exon6:c.A879G:p.Q293Q;ENSG00000154864:ENST00000302079:exon44:c.A7008G:p.Q2336Q;	0.0323772386429319	0.254
18	10691225	T	G	18	10691227	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.A7008C:p.Q2336H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.A7083C:p.Q2361H;ENSG00000154864:ENST00000285141:exon6:c.A573C:p.Q191H;ENSG00000154864:ENST00000503781:exon44:c.A7008C:p.Q2336H;ENSG00000154864:ENST00000538948:exon6:c.A879C:p.Q293H;ENSG00000154864:ENST00000302079:exon44:c.A7008C:p.Q2336H;	0.00208789821275812	0.122
18	10691380	T	A	18	10691382	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon44:c.A6853T:p.K2285X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon46:c.A6928T:p.K2310X;ENSG00000154864:ENST00000285141:exon6:c.A418T:p.K140X;ENSG00000154864:ENST00000503781:exon44:c.A6853T:p.K2285X;ENSG00000154864:ENST00000538948:exon6:c.A724T:p.K242X;ENSG00000154864:ENST00000302079:exon44:c.A6853T:p.K2285X;	0.939067626256133	0.846
18	10691380	T	C	18	10691382	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.A6853G:p.K2285E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.A6928G:p.K2310E;ENSG00000154864:ENST00000285141:exon6:c.A418G:p.K140E;ENSG00000154864:ENST00000503781:exon44:c.A6853G:p.K2285E;ENSG00000154864:ENST00000538948:exon6:c.A724G:p.K242E;ENSG00000154864:ENST00000302079:exon44:c.A6853G:p.K2285E;	0.644619176302694	0.476
18	10691380	T	G	18	10691382	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.A6853C:p.K2285Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.A6928C:p.K2310Q;ENSG00000154864:ENST00000285141:exon6:c.A418C:p.K140Q;ENSG00000154864:ENST00000503781:exon44:c.A6853C:p.K2285Q;ENSG00000154864:ENST00000538948:exon6:c.A724C:p.K242Q;ENSG00000154864:ENST00000302079:exon44:c.A6853C:p.K2285Q;	0.410811322197129	0.49
18	10691381	C	A	18	10691383	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.G6852T:p.R2284S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G6927T:p.R2309S;ENSG00000154864:ENST00000285141:exon6:c.G417T:p.R139S;ENSG00000154864:ENST00000503781:exon44:c.G6852T:p.R2284S;ENSG00000154864:ENST00000538948:exon6:c.G723T:p.R241S;ENSG00000154864:ENST00000302079:exon44:c.G6852T:p.R2284S;	0.997900633623306	0.876
18	10691381	C	G	18	10691383	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon44:c.G6852C:p.R2284S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G6927C:p.R2309S;ENSG00000154864:ENST00000285141:exon6:c.G417C:p.R139S;ENSG00000154864:ENST00000503781:exon44:c.G6852C:p.R2284S;ENSG00000154864:ENST00000538948:exon6:c.G723C:p.R241S;ENSG00000154864:ENST00000302079:exon44:c.G6852C:p.R2284S;	0.960250871427013	0.87
18	10691381	C	T	18	10691383	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon44:c.G6852A:p.R2284R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon46:c.G6927A:p.R2309R;ENSG00000154864:ENST00000285141:exon6:c.G417A:p.R139R;ENSG00000154864:ENST00000503781:exon44:c.G6852A:p.R2284R;ENSG00000154864:ENST00000538948:exon6:c.G723A:p.R241R;ENSG00000154864:ENST00000302079:exon44:c.G6852A:p.R2284R;	0.105728317695791	0.316
18	10691382	C	A	18	10691384	y	y	splicing	PIEZO2(NM_022068:exon45:c.6852-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.6852-1G>T;ENST00000285141:exon7:c.417-1G>T;ENST00000538948:exon7:c.723-1G>T;ENST00000582913:exon47:c.7058-1G>T;ENST00000503781:exon45:c.6852-1G>T;ENST00000580640:exon47:c.6927-1G>T)	.	.	0.999990361384395	0.938
18	10691382	C	G	18	10691384	y	y	splicing	PIEZO2(NM_022068:exon45:c.6852-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.6852-1G>C;ENST00000285141:exon7:c.417-1G>C;ENST00000538948:exon7:c.723-1G>C;ENST00000582913:exon47:c.7058-1G>C;ENST00000503781:exon45:c.6852-1G>C;ENST00000580640:exon47:c.6927-1G>C)	.	.	0.999990361384395	0.938
18	10691382	C	T	18	10691384	y	y	splicing	PIEZO2(NM_022068:exon45:c.6852-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.6852-1G>A;ENST00000285141:exon7:c.417-1G>A;ENST00000538948:exon7:c.723-1G>A;ENST00000582913:exon47:c.7058-1G>A;ENST00000503781:exon45:c.6852-1G>A;ENST00000580640:exon47:c.6927-1G>A)	.	.	0.999990361384395	0.938
18	10691383	T	A	18	10691385	y	y	splicing	PIEZO2(NM_022068:exon45:c.6852-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.6852-2A>T;ENST00000285141:exon7:c.417-2A>T;ENST00000538948:exon7:c.723-2A>T;ENST00000582913:exon47:c.7058-2A>T;ENST00000503781:exon45:c.6852-2A>T;ENST00000580640:exon47:c.6927-2A>T)	.	.	0.999988247793601	0.932
18	10691383	T	C	18	10691385	y	y	splicing	PIEZO2(NM_022068:exon45:c.6852-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.6852-2A>G;ENST00000285141:exon7:c.417-2A>G;ENST00000538948:exon7:c.723-2A>G;ENST00000582913:exon47:c.7058-2A>G;ENST00000503781:exon45:c.6852-2A>G;ENST00000580640:exon47:c.6927-2A>G)	.	.	0.999988247793601	0.932
18	10691383	T	G	18	10691385	y	y	splicing	PIEZO2(NM_022068:exon45:c.6852-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon45:c.6852-2A>C;ENST00000285141:exon7:c.417-2A>C;ENST00000538948:exon7:c.723-2A>C;ENST00000582913:exon47:c.7058-2A>C;ENST00000503781:exon45:c.6852-2A>C;ENST00000580640:exon47:c.6927-2A>C)	.	.	0.999988247793601	0.932
18	10691384	A	C	18	10691386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.44435963112475	0.644
18	10691384	A	G	18	10691386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.63671994089609E-4	0.006
18	10691384	A	T	18	10691386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00868432946812212	0.218
18	10691385	A	C	18	10691387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.83772418324637E-5	0.028
18	10691385	A	G	18	10691387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.27589336774553E-5	0.008
18	10691385	A	T	18	10691387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.85685262006009E-4	0.058
18	10691386	A	C	18	10691388	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.986079848669236	0.778
18	10691386	A	G	18	10691388	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0499414565324447	0.156
18	10691386	A	T	18	10691388	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995146310601603	0.73
18	10691387	A	C	18	10691389	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999940694614908	0.916
18	10691387	A	G	18	10691389	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.22988758304694E-5	0.08
18	10691387	A	T	18	10691389	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.667368041057387	0.468
18	10691388	T	A	18	10691390	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.36823282117038E-5	0.034
18	10691388	T	C	18	10691390	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.74293981137404E-4	0.032
18	10691388	T	G	18	10691390	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.064576689188E-4	0.046
18	10691389	G	A	18	10691391	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00127125277462466	0.06
18	10691389	G	C	18	10691391	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999813007532262	0.958
18	10691389	G	T	18	10691391	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00577866413346696	0.104
18	10691390	T	A	18	10691392	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.48823363571224E-5	0.146
18	10691390	T	C	18	10691392	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.80999750521112E-5	0.194
18	10691390	T	G	18	10691392	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.45224153730629E-4	0.176
18	10691391	A	C	18	10691393	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0985685776363705	0.5
18	10691391	A	G	18	10691393	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.98158564016206E-5	0.228
18	10691391	A	T	18	10691393	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00438750290551173	0.43
18	10691392	A	C	18	10691394	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.981524442735345	0.624
18	10691392	A	G	18	10691394	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0230905816929677	0.302
18	10691392	A	T	18	10691394	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.985659028747525	0.678
18	10691393	A	C	18	10691395	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.39048606969058	0.37
18	10691393	A	G	18	10691395	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.04018278719744E-5	0.016
18	10691393	A	T	18	10691395	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.436110374749612	0.444
18	10696064	G	A	18	10696066	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03936536774269E-4	0.0
18	10696064	G	C	18	10696066	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03936536774269E-4	0.014
18	10696064	G	T	18	10696066	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03936536774269E-4	0.0
18	10696065	A	C	18	10696067	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.83229438626057E-5	0.002
18	10696065	A	G	18	10696067	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.83229438626057E-5	0.002
18	10696065	A	T	18	10696067	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.83229438626057E-5	0.0
18	10696066	C	A	18	10696068	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.83808064976913E-5	0.0
18	10696066	C	G	18	10696068	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.41067755222246E-5	0.0
18	10696066	C	T	18	10696068	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.33091231530166E-5	0.0
18	10696067	C	A	18	10696069	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.647321963752704	0.526
18	10696067	C	G	18	10696069	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.530907371748287	0.562
18	10696067	C	T	18	10696069	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.693288361609354	0.536
18	10696068	T	A	18	10696070	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.961890497484695	0.684
18	10696068	T	C	18	10696070	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.972884021603729	0.718
18	10696068	T	G	18	10696070	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.909069035964081	0.652
18	10696069	T	A	18	10696071	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.977254610161399	0.67
18	10696069	T	C	18	10696071	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0130399571968606	0.266
18	10696069	T	G	18	10696071	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.983314435845217	0.738
18	10696070	A	C	18	10696072	y	y	splicing	PIEZO2(NM_022068:exon44:c.6851+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6851+2T>G;ENST00000285141:exon6:c.416+2T>G;ENST00000538948:exon6:c.722+2T>G;ENST00000582913:exon46:c.7057+2T>G;ENST00000503781:exon44:c.6851+2T>G;ENST00000580640:exon46:c.6926+2T>G)	.	.	0.999989917668626	0.928
18	10696070	A	G	18	10696072	y	y	splicing	PIEZO2(NM_022068:exon44:c.6851+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6851+2T>C;ENST00000285141:exon6:c.416+2T>C;ENST00000538948:exon6:c.722+2T>C;ENST00000582913:exon46:c.7057+2T>C;ENST00000503781:exon44:c.6851+2T>C;ENST00000580640:exon46:c.6926+2T>C)	.	.	0.991781671885672	0.608
18	10696070	A	T	18	10696072	y	y	splicing	PIEZO2(NM_022068:exon44:c.6851+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6851+2T>A;ENST00000285141:exon6:c.416+2T>A;ENST00000538948:exon6:c.722+2T>A;ENST00000582913:exon46:c.7057+2T>A;ENST00000503781:exon44:c.6851+2T>A;ENST00000580640:exon46:c.6926+2T>A)	.	.	0.999989917668626	0.928
18	10696071	C	A	18	10696073	y	y	splicing	PIEZO2(NM_022068:exon44:c.6851+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6851+1G>T;ENST00000285141:exon6:c.416+1G>T;ENST00000538948:exon6:c.722+1G>T;ENST00000582913:exon46:c.7057+1G>T;ENST00000503781:exon44:c.6851+1G>T;ENST00000580640:exon46:c.6926+1G>T)	.	.	0.999986675681007	0.934
18	10696071	C	G	18	10696073	y	y	splicing	PIEZO2(NM_022068:exon44:c.6851+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6851+1G>C;ENST00000285141:exon6:c.416+1G>C;ENST00000538948:exon6:c.722+1G>C;ENST00000582913:exon46:c.7057+1G>C;ENST00000503781:exon44:c.6851+1G>C;ENST00000580640:exon46:c.6926+1G>C)	.	.	0.999986675681007	0.934
18	10696071	C	T	18	10696073	y	y	splicing	PIEZO2(NM_022068:exon44:c.6851+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6851+1G>A;ENST00000285141:exon6:c.416+1G>A;ENST00000538948:exon6:c.722+1G>A;ENST00000582913:exon46:c.7057+1G>A;ENST00000503781:exon44:c.6851+1G>A;ENST00000580640:exon46:c.6926+1G>A)	.	.	0.999986675681007	0.934
18	10696072	C	A	18	10696074	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.G6851T:p.R2284M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.G6926T:p.R2309M;ENSG00000154864:ENST00000285141:exon5:c.G416T:p.R139M;ENSG00000154864:ENST00000503781:exon43:c.G6851T:p.R2284M;ENSG00000154864:ENST00000538948:exon5:c.G722T:p.R241M;ENSG00000154864:ENST00000302079:exon43:c.G6851T:p.R2284M;	0.999965192089784	0.992
18	10696072	C	G	18	10696074	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.G6851C:p.R2284T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.G6926C:p.R2309T;ENSG00000154864:ENST00000285141:exon5:c.G416C:p.R139T;ENSG00000154864:ENST00000503781:exon43:c.G6851C:p.R2284T;ENSG00000154864:ENST00000538948:exon5:c.G722C:p.R241T;ENSG00000154864:ENST00000302079:exon43:c.G6851C:p.R2284T;	0.999886497214204	0.896
18	10696072	C	T	18	10696074	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.G6851A:p.R2284K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.G6926A:p.R2309K;ENSG00000154864:ENST00000285141:exon5:c.G416A:p.R139K;ENSG00000154864:ENST00000503781:exon43:c.G6851A:p.R2284K;ENSG00000154864:ENST00000538948:exon5:c.G722A:p.R241K;ENSG00000154864:ENST00000302079:exon43:c.G6851A:p.R2284K;	0.999961895312081	0.968
18	10696073	T	A	18	10696075	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.A6850T:p.R2284W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.A6925T:p.R2309W;ENSG00000154864:ENST00000285141:exon5:c.A415T:p.R139W;ENSG00000154864:ENST00000503781:exon43:c.A6850T:p.R2284W;ENSG00000154864:ENST00000538948:exon5:c.A721T:p.R241W;ENSG00000154864:ENST00000302079:exon43:c.A6850T:p.R2284W;	0.985170402940041	0.746
18	10696073	T	C	18	10696075	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.A6850G:p.R2284G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.A6925G:p.R2309G;ENSG00000154864:ENST00000285141:exon5:c.A415G:p.R139G;ENSG00000154864:ENST00000503781:exon43:c.A6850G:p.R2284G;ENSG00000154864:ENST00000538948:exon5:c.A721G:p.R241G;ENSG00000154864:ENST00000302079:exon43:c.A6850G:p.R2284G;	0.990053958169028	0.848
18	10696073	T	G	18	10696075	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon43:c.A6850C:p.R2284R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.A6925C:p.R2309R;ENSG00000154864:ENST00000285141:exon5:c.A415C:p.R139R;ENSG00000154864:ENST00000503781:exon43:c.A6850C:p.R2284R;ENSG00000154864:ENST00000538948:exon5:c.A721C:p.R241R;ENSG00000154864:ENST00000302079:exon43:c.A6850C:p.R2284R;	0.987212613807728	0.88
18	10696074	C	A	18	10696076	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.G6849T:p.E2283D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.G6924T:p.E2308D;ENSG00000154864:ENST00000285141:exon5:c.G414T:p.E138D;ENSG00000154864:ENST00000503781:exon43:c.G6849T:p.E2283D;ENSG00000154864:ENST00000538948:exon5:c.G720T:p.E240D;ENSG00000154864:ENST00000302079:exon43:c.G6849T:p.E2283D;	0.00437355626156795	0.1
18	10696074	C	G	18	10696076	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.G6849C:p.E2283D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.G6924C:p.E2308D;ENSG00000154864:ENST00000285141:exon5:c.G414C:p.E138D;ENSG00000154864:ENST00000503781:exon43:c.G6849C:p.E2283D;ENSG00000154864:ENST00000538948:exon5:c.G720C:p.E240D;ENSG00000154864:ENST00000302079:exon43:c.G6849C:p.E2283D;	2.73739441499214E-4	0.018
18	10696074	C	T	18	10696076	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon43:c.G6849A:p.E2283E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.G6924A:p.E2308E;ENSG00000154864:ENST00000285141:exon5:c.G414A:p.E138E;ENSG00000154864:ENST00000503781:exon43:c.G6849A:p.E2283E;ENSG00000154864:ENST00000538948:exon5:c.G720A:p.E240E;ENSG00000154864:ENST00000302079:exon43:c.G6849A:p.E2283E;	3.81961088085456E-4	0.004
18	10696285	T	A	18	10696287	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.A6638T:p.K2213I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.A6713T:p.K2238I;ENSG00000154864:ENST00000285141:exon5:c.A203T:p.K68I;ENSG00000154864:ENST00000503781:exon43:c.A6638T:p.K2213I;ENSG00000154864:ENST00000538948:exon5:c.A509T:p.K170I;ENSG00000154864:ENST00000302079:exon43:c.A6638T:p.K2213I;	0.785867110147279	0.754
18	10696285	T	C	18	10696287	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.A6638G:p.K2213R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.A6713G:p.K2238R;ENSG00000154864:ENST00000285141:exon5:c.A203G:p.K68R;ENSG00000154864:ENST00000503781:exon43:c.A6638G:p.K2213R;ENSG00000154864:ENST00000538948:exon5:c.A509G:p.K170R;ENSG00000154864:ENST00000302079:exon43:c.A6638G:p.K2213R;	0.858336742280155	0.828
18	10696285	T	G	18	10696287	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.A6638C:p.K2213T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.A6713C:p.K2238T;ENSG00000154864:ENST00000285141:exon5:c.A203C:p.K68T;ENSG00000154864:ENST00000503781:exon43:c.A6638C:p.K2213T;ENSG00000154864:ENST00000538948:exon5:c.A509C:p.K170T;ENSG00000154864:ENST00000302079:exon43:c.A6638C:p.K2213T;	0.885309771164688	0.838
18	10696286	T	A	18	10696288	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon43:c.A6637T:p.K2213X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon45:c.A6712T:p.K2238X;ENSG00000154864:ENST00000285141:exon5:c.A202T:p.K68X;ENSG00000154864:ENST00000503781:exon43:c.A6637T:p.K2213X;ENSG00000154864:ENST00000538948:exon5:c.A508T:p.K170X;ENSG00000154864:ENST00000302079:exon43:c.A6637T:p.K2213X;	0.755427186264088	0.618
18	10696286	T	C	18	10696288	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.A6637G:p.K2213E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.A6712G:p.K2238E;ENSG00000154864:ENST00000285141:exon5:c.A202G:p.K68E;ENSG00000154864:ENST00000503781:exon43:c.A6637G:p.K2213E;ENSG00000154864:ENST00000538948:exon5:c.A508G:p.K170E;ENSG00000154864:ENST00000302079:exon43:c.A6637G:p.K2213E;	0.553331742707648	0.572
18	10696286	T	G	18	10696288	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon43:c.A6637C:p.K2213Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon45:c.A6712C:p.K2238Q;ENSG00000154864:ENST00000285141:exon5:c.A202C:p.K68Q;ENSG00000154864:ENST00000503781:exon43:c.A6637C:p.K2213Q;ENSG00000154864:ENST00000538948:exon5:c.A508C:p.K170Q;ENSG00000154864:ENST00000302079:exon43:c.A6637C:p.K2213Q;	0.86392989851494	0.62
18	10696287	C	A	18	10696289	y	y	splicing	PIEZO2(NM_022068:exon44:c.6637-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6637-1G>T;ENST00000285141:exon6:c.202-1G>T;ENST00000538948:exon6:c.508-1G>T;ENST00000582913:exon46:c.6843-1G>T;ENST00000503781:exon44:c.6637-1G>T;ENST00000580640:exon46:c.6712-1G>T)	.	.	0.999985532734767	0.946
18	10696287	C	G	18	10696289	y	y	splicing	PIEZO2(NM_022068:exon44:c.6637-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6637-1G>C;ENST00000285141:exon6:c.202-1G>C;ENST00000538948:exon6:c.508-1G>C;ENST00000582913:exon46:c.6843-1G>C;ENST00000503781:exon44:c.6637-1G>C;ENST00000580640:exon46:c.6712-1G>C)	.	.	0.999985532734767	0.946
18	10696287	C	T	18	10696289	y	y	splicing	PIEZO2(NM_022068:exon44:c.6637-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6637-1G>A;ENST00000285141:exon6:c.202-1G>A;ENST00000538948:exon6:c.508-1G>A;ENST00000582913:exon46:c.6843-1G>A;ENST00000503781:exon44:c.6637-1G>A;ENST00000580640:exon46:c.6712-1G>A)	.	.	0.999985532734767	0.946
18	10696288	T	A	18	10696290	y	y	splicing	PIEZO2(NM_022068:exon44:c.6637-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6637-2A>T;ENST00000285141:exon6:c.202-2A>T;ENST00000538948:exon6:c.508-2A>T;ENST00000582913:exon46:c.6843-2A>T;ENST00000503781:exon44:c.6637-2A>T;ENST00000580640:exon46:c.6712-2A>T)	.	.	0.999988247793601	0.948
18	10696288	T	C	18	10696290	y	y	splicing	PIEZO2(NM_022068:exon44:c.6637-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6637-2A>G;ENST00000285141:exon6:c.202-2A>G;ENST00000538948:exon6:c.508-2A>G;ENST00000582913:exon46:c.6843-2A>G;ENST00000503781:exon44:c.6637-2A>G;ENST00000580640:exon46:c.6712-2A>G)	.	.	0.999988247793601	0.948
18	10696288	T	G	18	10696290	y	y	splicing	PIEZO2(NM_022068:exon44:c.6637-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon44:c.6637-2A>C;ENST00000285141:exon6:c.202-2A>C;ENST00000538948:exon6:c.508-2A>C;ENST00000582913:exon46:c.6843-2A>C;ENST00000503781:exon44:c.6637-2A>C;ENST00000580640:exon46:c.6712-2A>C)	.	.	0.999988247793601	0.948
18	10696289	G	A	18	10696291	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00281670093692856	0.044
18	10696289	G	C	18	10696291	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999905074637113	0.97
18	10696289	G	T	18	10696291	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.989860488104478	0.728
18	10696290	G	A	18	10696292	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00321872660613539	0.05
18	10696290	G	C	18	10696292	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00361396856446653	0.058
18	10696290	G	T	18	10696292	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00361396856446653	0.064
18	10696291	G	A	18	10696293	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.68879409084043E-5	0.0
18	10696291	G	C	18	10696293	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00218561665122085	0.074
18	10696291	G	T	18	10696293	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00111598154788214	0.034
18	10696292	G	A	18	10696294	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.37910362597082E-5	0.004
18	10696292	G	C	18	10696294	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00355149703836536	0.194
18	10696292	G	T	18	10696294	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00487121023230541	0.188
18	10696293	A	C	18	10696295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00575657649263786	0.076
18	10696293	A	G	18	10696295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.27800872652918E-4	0.004
18	10696293	A	T	18	10696295	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00660447702424189	0.086
18	10696294	A	C	18	10696296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.44308052120916E-4	0.062
18	10696294	A	G	18	10696296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.65539167867E-4	0.014
18	10696294	A	T	18	10696296	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.9431193552975E-4	0.118
18	10696295	G	A	18	10696297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.55950034821254E-4	0.004
18	10696295	G	C	18	10696297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00525677774886489	0.118
18	10696295	G	T	18	10696297	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00572499298754665	0.114
18	10696296	A	C	18	10696298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.408419345717153	0.452
18	10696296	A	G	18	10696298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00219651019465357	0.068
18	10696296	A	T	18	10696298	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.674585776613893	0.538
18	10696297	G	A	18	10696299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.68373010367714E-4	0.016
18	10696297	G	C	18	10696299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.15507835876847E-4	0.18
18	10696297	G	T	18	10696299	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00311083082090987	0.15
18	10696298	A	C	18	10696300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0611546997808783	0.388
18	10696298	A	G	18	10696300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00702759433938128	0.19
18	10696298	A	T	18	10696300	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0541580931106514	0.406
18	10696382	C	A	18	10696384	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.39784939221907E-5	0.0
18	10696382	C	G	18	10696384	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.8384721484698E-5	0.0
18	10696382	C	T	18	10696384	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.39784939221907E-5	0.0
18	10696383	A	C	18	10696385	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.26473499995288E-4	0.042
18	10696383	A	G	18	10696385	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.47132994775647E-4	0.0
18	10696383	A	T	18	10696385	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.44650152186055E-4	0.006
18	10696384	A	C	18	10696386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.990915289330423	0.908
18	10696384	A	G	18	10696386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.990380291682654	0.77
18	10696384	A	T	18	10696386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.986415395639653	0.714
18	10696385	C	A	18	10696387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999966161485742	0.964
18	10696385	C	G	18	10696387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999966161485742	1.0
18	10696385	C	T	18	10696387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99996621497701	0.99
18	10696386	C	A	18	10696388	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.010039363299539	0.106
18	10696386	C	G	18	10696388	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0157441134904044	0.272
18	10696386	C	T	18	10696388	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.71432002195744E-4	0.052
18	10696387	T	A	18	10696389	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999860218404312	0.998
18	10696387	T	C	18	10696389	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997286083401644	0.972
18	10696387	T	G	18	10696389	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99984545068264	0.942
18	10696388	A	C	18	10696390	y	y	splicing	PIEZO2(NM_022068:exon43:c.6636+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6636+2T>G;ENST00000285141:exon5:c.201+2T>G;ENST00000538948:exon5:c.507+2T>G;ENST00000582913:exon45:c.6842+2T>G;ENST00000503781:exon43:c.6636+2T>G;ENST00000580640:exon45:c.6711+2T>G)	.	.	0.999989917668626	0.952
18	10696388	A	G	18	10696390	y	y	splicing	PIEZO2(NM_022068:exon43:c.6636+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6636+2T>C;ENST00000285141:exon5:c.201+2T>C;ENST00000538948:exon5:c.507+2T>C;ENST00000582913:exon45:c.6842+2T>C;ENST00000503781:exon43:c.6636+2T>C;ENST00000580640:exon45:c.6711+2T>C)	.	.	0.993179459523591	0.664
18	10696388	A	T	18	10696390	y	y	splicing	PIEZO2(NM_022068:exon43:c.6636+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6636+2T>A;ENST00000285141:exon5:c.201+2T>A;ENST00000538948:exon5:c.507+2T>A;ENST00000582913:exon45:c.6842+2T>A;ENST00000503781:exon43:c.6636+2T>A;ENST00000580640:exon45:c.6711+2T>A)	.	.	0.999989917668626	0.952
18	10696389	C	A	18	10696391	y	y	splicing	PIEZO2(NM_022068:exon43:c.6636+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6636+1G>T;ENST00000285141:exon5:c.201+1G>T;ENST00000538948:exon5:c.507+1G>T;ENST00000582913:exon45:c.6842+1G>T;ENST00000503781:exon43:c.6636+1G>T;ENST00000580640:exon45:c.6711+1G>T)	.	.	0.999981760802075	0.96
18	10696389	C	G	18	10696391	y	y	splicing	PIEZO2(NM_022068:exon43:c.6636+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6636+1G>C;ENST00000285141:exon5:c.201+1G>C;ENST00000538948:exon5:c.507+1G>C;ENST00000582913:exon45:c.6842+1G>C;ENST00000503781:exon43:c.6636+1G>C;ENST00000580640:exon45:c.6711+1G>C)	.	.	0.999981760802075	0.96
18	10696389	C	T	18	10696391	y	y	splicing	PIEZO2(NM_022068:exon43:c.6636+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6636+1G>A;ENST00000285141:exon5:c.201+1G>A;ENST00000538948:exon5:c.507+1G>A;ENST00000582913:exon45:c.6842+1G>A;ENST00000503781:exon43:c.6636+1G>A;ENST00000580640:exon45:c.6711+1G>A)	.	.	0.999981760802075	0.96
18	10696390	C	A	18	10696392	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon42:c.G6636T:p.G2212G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6711T:p.G2237G;ENSG00000154864:ENST00000285141:exon4:c.G201T:p.G67G;ENSG00000154864:ENST00000503781:exon42:c.G6636T:p.G2212G;ENSG00000154864:ENST00000538948:exon4:c.G507T:p.G169G;ENSG00000154864:ENST00000302079:exon42:c.G6636T:p.G2212G;	0.999922452730033	0.998
18	10696390	C	G	18	10696392	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon42:c.G6636C:p.G2212G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6711C:p.G2237G;ENSG00000154864:ENST00000285141:exon4:c.G201C:p.G67G;ENSG00000154864:ENST00000503781:exon42:c.G6636C:p.G2212G;ENSG00000154864:ENST00000538948:exon4:c.G507C:p.G169G;ENSG00000154864:ENST00000302079:exon42:c.G6636C:p.G2212G;	0.999959636885224	0.996
18	10696390	C	T	18	10696392	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon42:c.G6636A:p.G2212G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6711A:p.G2237G;ENSG00000154864:ENST00000285141:exon4:c.G201A:p.G67G;ENSG00000154864:ENST00000503781:exon42:c.G6636A:p.G2212G;ENSG00000154864:ENST00000538948:exon4:c.G507A:p.G169G;ENSG00000154864:ENST00000302079:exon42:c.G6636A:p.G2212G;	0.999915499326117	1.0
18	10696391	C	A	18	10696393	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.G6635T:p.G2212V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6710T:p.G2237V;ENSG00000154864:ENST00000285141:exon4:c.G200T:p.G67V;ENSG00000154864:ENST00000503781:exon42:c.G6635T:p.G2212V;ENSG00000154864:ENST00000538948:exon4:c.G506T:p.G169V;ENSG00000154864:ENST00000302079:exon42:c.G6635T:p.G2212V;	0.997265547262204	0.774
18	10696391	C	G	18	10696393	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.G6635C:p.G2212A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6710C:p.G2237A;ENSG00000154864:ENST00000285141:exon4:c.G200C:p.G67A;ENSG00000154864:ENST00000503781:exon42:c.G6635C:p.G2212A;ENSG00000154864:ENST00000538948:exon4:c.G506C:p.G169A;ENSG00000154864:ENST00000302079:exon42:c.G6635C:p.G2212A;	0.989154222397697	0.836
18	10696391	C	T	18	10696393	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.G6635A:p.G2212E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6710A:p.G2237E;ENSG00000154864:ENST00000285141:exon4:c.G200A:p.G67E;ENSG00000154864:ENST00000503781:exon42:c.G6635A:p.G2212E;ENSG00000154864:ENST00000538948:exon4:c.G506A:p.G169E;ENSG00000154864:ENST00000302079:exon42:c.G6635A:p.G2212E;	0.947712071005144	0.6
18	10696392	C	A	18	10696394	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.G6634T:p.G2212W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6709T:p.G2237W;ENSG00000154864:ENST00000285141:exon4:c.G199T:p.G67W;ENSG00000154864:ENST00000503781:exon42:c.G6634T:p.G2212W;ENSG00000154864:ENST00000538948:exon4:c.G505T:p.G169W;ENSG00000154864:ENST00000302079:exon42:c.G6634T:p.G2212W;	0.962073329360995	0.852
18	10696392	C	G	18	10696394	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.G6634C:p.G2212R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6709C:p.G2237R;ENSG00000154864:ENST00000285141:exon4:c.G199C:p.G67R;ENSG00000154864:ENST00000503781:exon42:c.G6634C:p.G2212R;ENSG00000154864:ENST00000538948:exon4:c.G505C:p.G169R;ENSG00000154864:ENST00000302079:exon42:c.G6634C:p.G2212R;	0.799834549701922	0.762
18	10696392	C	T	18	10696394	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.G6634A:p.G2212R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6709A:p.G2237R;ENSG00000154864:ENST00000285141:exon4:c.G199A:p.G67R;ENSG00000154864:ENST00000503781:exon42:c.G6634A:p.G2212R;ENSG00000154864:ENST00000538948:exon4:c.G505A:p.G169R;ENSG00000154864:ENST00000302079:exon42:c.G6634A:p.G2212R;	0.778341854599675	0.706
18	10696536	T	A	18	10696538	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.A6490T:p.T2164S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.A6565T:p.T2189S;ENSG00000154864:ENST00000285141:exon4:c.A55T:p.T19S;ENSG00000154864:ENST00000503781:exon42:c.A6490T:p.T2164S;ENSG00000154864:ENST00000538948:exon4:c.A361T:p.T121S;ENSG00000154864:ENST00000302079:exon42:c.A6490T:p.T2164S;	1.8010473901609E-4	0.002
18	10696536	T	C	18	10696538	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.A6490G:p.T2164A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.A6565G:p.T2189A;ENSG00000154864:ENST00000285141:exon4:c.A55G:p.T19A;ENSG00000154864:ENST00000503781:exon42:c.A6490G:p.T2164A;ENSG00000154864:ENST00000538948:exon4:c.A361G:p.T121A;ENSG00000154864:ENST00000302079:exon42:c.A6490G:p.T2164A;	2.71375677201891E-5	0.022
18	10696536	T	G	18	10696538	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.A6490C:p.T2164P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.A6565C:p.T2189P;ENSG00000154864:ENST00000285141:exon4:c.A55C:p.T19P;ENSG00000154864:ENST00000503781:exon42:c.A6490C:p.T2164P;ENSG00000154864:ENST00000538948:exon4:c.A361C:p.T121P;ENSG00000154864:ENST00000302079:exon42:c.A6490C:p.T2164P;	0.00169315952839797	0.018
18	10696537	C	A	18	10696539	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.G6489T:p.K2163N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6564T:p.K2188N;ENSG00000154864:ENST00000285141:exon4:c.G54T:p.K18N;ENSG00000154864:ENST00000503781:exon42:c.G6489T:p.K2163N;ENSG00000154864:ENST00000538948:exon4:c.G360T:p.K120N;ENSG00000154864:ENST00000302079:exon42:c.G6489T:p.K2163N;	0.765845695201438	0.464
18	10696537	C	G	18	10696539	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon42:c.G6489C:p.K2163N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6564C:p.K2188N;ENSG00000154864:ENST00000285141:exon4:c.G54C:p.K18N;ENSG00000154864:ENST00000503781:exon42:c.G6489C:p.K2163N;ENSG00000154864:ENST00000538948:exon4:c.G360C:p.K120N;ENSG00000154864:ENST00000302079:exon42:c.G6489C:p.K2163N;	0.0290817364506809	0.454
18	10696537	C	T	18	10696539	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon42:c.G6489A:p.K2163K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon44:c.G6564A:p.K2188K;ENSG00000154864:ENST00000285141:exon4:c.G54A:p.K18K;ENSG00000154864:ENST00000503781:exon42:c.G6489A:p.K2163K;ENSG00000154864:ENST00000538948:exon4:c.G360A:p.K120K;ENSG00000154864:ENST00000302079:exon42:c.G6489A:p.K2163K;	0.0666904656692111	0.298
18	10696538	C	A	18	10696540	y	y	splicing	PIEZO2(NM_022068:exon43:c.6489-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6489-1G>T;ENST00000285141:exon5:c.54-1G>T;ENST00000538948:exon5:c.360-1G>T;ENST00000582913:exon45:c.6695-1G>T;ENST00000503781:exon43:c.6489-1G>T;ENST00000580640:exon45:c.6564-1G>T)	.	.	0.999981760802075	0.944
18	10696538	C	G	18	10696540	y	y	splicing	PIEZO2(NM_022068:exon43:c.6489-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6489-1G>C;ENST00000285141:exon5:c.54-1G>C;ENST00000538948:exon5:c.360-1G>C;ENST00000582913:exon45:c.6695-1G>C;ENST00000503781:exon43:c.6489-1G>C;ENST00000580640:exon45:c.6564-1G>C)	.	.	0.999967335026411	0.942
18	10696538	C	T	18	10696540	y	y	splicing	PIEZO2(NM_022068:exon43:c.6489-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6489-1G>A;ENST00000285141:exon5:c.54-1G>A;ENST00000538948:exon5:c.360-1G>A;ENST00000582913:exon45:c.6695-1G>A;ENST00000503781:exon43:c.6489-1G>A;ENST00000580640:exon45:c.6564-1G>A)	.	.	0.999981760802075	0.944
18	10696539	T	A	18	10696541	y	y	splicing	PIEZO2(NM_022068:exon43:c.6489-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6489-2A>T;ENST00000285141:exon5:c.54-2A>T;ENST00000538948:exon5:c.360-2A>T;ENST00000582913:exon45:c.6695-2A>T;ENST00000503781:exon43:c.6489-2A>T;ENST00000580640:exon45:c.6564-2A>T)	.	.	0.999986903042585	0.928
18	10696539	T	C	18	10696541	y	y	splicing	PIEZO2(NM_022068:exon43:c.6489-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6489-2A>G;ENST00000285141:exon5:c.54-2A>G;ENST00000538948:exon5:c.360-2A>G;ENST00000582913:exon45:c.6695-2A>G;ENST00000503781:exon43:c.6489-2A>G;ENST00000580640:exon45:c.6564-2A>G)	.	.	0.99998174402319	0.926
18	10696539	T	G	18	10696541	y	y	splicing	PIEZO2(NM_022068:exon43:c.6489-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon43:c.6489-2A>C;ENST00000285141:exon5:c.54-2A>C;ENST00000538948:exon5:c.360-2A>C;ENST00000582913:exon45:c.6695-2A>C;ENST00000503781:exon43:c.6489-2A>C;ENST00000580640:exon45:c.6564-2A>C)	.	.	0.999986903042585	0.926
18	10696540	G	A	18	10696542	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.01470708563155	0.17
18	10696540	G	C	18	10696542	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999697661903246	0.95
18	10696540	G	T	18	10696542	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.692156637210916	0.64
18	10696541	C	A	18	10696543	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.94716658651354E-5	0.002
18	10696541	C	G	18	10696543	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.59880554877767E-5	0.004
18	10696541	C	T	18	10696543	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.94716658651354E-5	0.054
18	10696542	A	C	18	10696544	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.356164620078093	0.39
18	10696542	A	G	18	10696544	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00207652621881458	0.038
18	10696542	A	T	18	10696544	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999516230982996	0.96
18	10696543	A	C	18	10696545	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00159095424389443	0.154
18	10696543	A	G	18	10696545	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.45717053486562E-4	0.016
18	10696543	A	T	18	10696545	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00399940983405617	0.136
18	10696544	A	C	18	10696546	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.00007910202214E-4	0.01
18	10696544	A	G	18	10696546	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.62927050761436E-5	0.004
18	10696544	A	T	18	10696546	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.81881526924202E-5	0.02
18	10696545	A	C	18	10696547	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999923162475882	0.972
18	10696545	A	G	18	10696547	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.67763181781963E-4	0.058
18	10696545	A	T	18	10696547	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00479442797856946	0.146
18	10696546	T	A	18	10696548	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.68527035159163E-5	0.0
18	10696546	T	C	18	10696548	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.18599839185622E-5	0.0
18	10696546	T	G	18	10696548	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.9900950348882E-5	0.002
18	10696547	G	A	18	10696549	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.42271424110701E-5	0.012
18	10696547	G	C	18	10696549	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.18741327095689E-5	0.076
18	10696547	G	T	18	10696549	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.9188484058909E-4	0.07
18	10696548	G	A	18	10696550	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.79314067528515E-5	0.002
18	10696548	G	C	18	10696550	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.83838165788044E-4	0.036
18	10696548	G	T	18	10696550	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00314821285349614	0.116
18	10696549	A	C	18	10696551	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00792631867502334	0.222
18	10696549	A	G	18	10696551	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.23891407222891E-4	0.004
18	10696549	A	T	18	10696551	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00613376740006159	0.236
18	10697738	G	A	18	10697740	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.36588771288374E-4	0.02
18	10697738	G	C	18	10697740	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.48149846341236E-4	0.034
18	10697738	G	T	18	10697740	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.48149846341236E-4	0.012
18	10697739	G	A	18	10697741	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00462964111682662	0.25
18	10697739	G	C	18	10697741	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.77818585274784E-4	0.006
18	10697739	G	T	18	10697741	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.39538958326629E-4	0.01
18	10697740	A	C	18	10697742	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.986305387833164	0.758
18	10697740	A	G	18	10697742	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.992824200082981	0.758
18	10697740	A	T	18	10697742	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993914255545379	0.84
18	10697741	C	A	18	10697743	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999976229545353	0.98
18	10697741	C	G	18	10697743	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999939226256587	0.996
18	10697741	C	T	18	10697743	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999974845011611	0.998
18	10697742	T	A	18	10697744	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99936891476707	0.946
18	10697742	T	C	18	10697744	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999006334725311	0.96
18	10697742	T	G	18	10697744	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995222308932654	0.87
18	10697743	C	A	18	10697745	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996064908772977	0.736
18	10697743	C	G	18	10697745	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999583111977778	0.768
18	10697743	C	T	18	10697745	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.60791332448524E-4	0.018
18	10697744	A	C	18	10697746	y	y	splicing	PIEZO2(NM_022068:exon42:c.6488+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6488+2T>G;ENST00000285141:exon4:c.53+2T>G;ENST00000538948:exon4:c.359+2T>G;ENST00000582913:exon44:c.6694+2T>G;ENST00000503781:exon42:c.6488+2T>G;ENST00000580640:exon44:c.6563+2T>G)	.	.	0.999988247793601	0.93
18	10697744	A	G	18	10697746	y	y	splicing	PIEZO2(NM_022068:exon42:c.6488+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6488+2T>C;ENST00000285141:exon4:c.53+2T>C;ENST00000538948:exon4:c.359+2T>C;ENST00000582913:exon44:c.6694+2T>C;ENST00000503781:exon42:c.6488+2T>C;ENST00000580640:exon44:c.6563+2T>C)	.	.	0.999945827492243	0.862
18	10697744	A	T	18	10697746	y	y	splicing	PIEZO2(NM_022068:exon42:c.6488+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6488+2T>A;ENST00000285141:exon4:c.53+2T>A;ENST00000538948:exon4:c.359+2T>A;ENST00000582913:exon44:c.6694+2T>A;ENST00000503781:exon42:c.6488+2T>A;ENST00000580640:exon44:c.6563+2T>A)	.	.	0.999988247793601	0.93
18	10697745	C	A	18	10697747	y	y	splicing	PIEZO2(NM_022068:exon42:c.6488+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6488+1G>T;ENST00000285141:exon4:c.53+1G>T;ENST00000538948:exon4:c.359+1G>T;ENST00000582913:exon44:c.6694+1G>T;ENST00000503781:exon42:c.6488+1G>T;ENST00000580640:exon44:c.6563+1G>T)	.	.	0.999990361384395	0.938
18	10697745	C	G	18	10697747	y	y	splicing	PIEZO2(NM_022068:exon42:c.6488+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6488+1G>C;ENST00000285141:exon4:c.53+1G>C;ENST00000538948:exon4:c.359+1G>C;ENST00000582913:exon44:c.6694+1G>C;ENST00000503781:exon42:c.6488+1G>C;ENST00000580640:exon44:c.6563+1G>C)	.	.	0.999990361384395	0.938
18	10697745	C	T	18	10697747	y	y	splicing	PIEZO2(NM_022068:exon42:c.6488+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6488+1G>A;ENST00000285141:exon4:c.53+1G>A;ENST00000538948:exon4:c.359+1G>A;ENST00000582913:exon44:c.6694+1G>A;ENST00000503781:exon42:c.6488+1G>A;ENST00000580640:exon44:c.6563+1G>A)	.	.	0.999990361384395	0.938
18	10697746	T	A	18	10697748	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.A6488T:p.K2163M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.A6563T:p.K2188M;ENSG00000154864:ENST00000285141:exon3:c.A53T:p.K18M;ENSG00000154864:ENST00000503781:exon41:c.A6488T:p.K2163M;ENSG00000154864:ENST00000538948:exon3:c.A359T:p.K120M;ENSG00000154864:ENST00000302079:exon41:c.A6488T:p.K2163M;	0.0099572868936862	0.158
18	10697746	T	C	18	10697748	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.A6488G:p.K2163R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.A6563G:p.K2188R;ENSG00000154864:ENST00000285141:exon3:c.A53G:p.K18R;ENSG00000154864:ENST00000503781:exon41:c.A6488G:p.K2163R;ENSG00000154864:ENST00000538948:exon3:c.A359G:p.K120R;ENSG00000154864:ENST00000302079:exon41:c.A6488G:p.K2163R;	1.20147074420673E-4	0.074
18	10697746	T	G	18	10697748	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.A6488C:p.K2163T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.A6563C:p.K2188T;ENSG00000154864:ENST00000285141:exon3:c.A53C:p.K18T;ENSG00000154864:ENST00000503781:exon41:c.A6488C:p.K2163T;ENSG00000154864:ENST00000538948:exon3:c.A359C:p.K120T;ENSG00000154864:ENST00000302079:exon41:c.A6488C:p.K2163T;	0.00885392038065604	0.184
18	10697747	T	A	18	10697749	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon41:c.A6487T:p.K2163X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon43:c.A6562T:p.K2188X;ENSG00000154864:ENST00000285141:exon3:c.A52T:p.K18X;ENSG00000154864:ENST00000503781:exon41:c.A6487T:p.K2163X;ENSG00000154864:ENST00000538948:exon3:c.A358T:p.K120X;ENSG00000154864:ENST00000302079:exon41:c.A6487T:p.K2163X;	0.996452210885389	0.822
18	10697747	T	C	18	10697749	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.A6487G:p.K2163E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.A6562G:p.K2188E;ENSG00000154864:ENST00000285141:exon3:c.A52G:p.K18E;ENSG00000154864:ENST00000503781:exon41:c.A6487G:p.K2163E;ENSG00000154864:ENST00000538948:exon3:c.A358G:p.K120E;ENSG00000154864:ENST00000302079:exon41:c.A6487G:p.K2163E;	0.53492801140458	0.49
18	10697747	T	G	18	10697749	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.A6487C:p.K2163Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.A6562C:p.K2188Q;ENSG00000154864:ENST00000285141:exon3:c.A52C:p.K18Q;ENSG00000154864:ENST00000503781:exon41:c.A6487C:p.K2163Q;ENSG00000154864:ENST00000538948:exon3:c.A358C:p.K120Q;ENSG00000154864:ENST00000302079:exon41:c.A6487C:p.K2163Q;	0.480489253214715	0.51
18	10697748	C	A	18	10697750	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.G6486T:p.K2162N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.G6561T:p.K2187N;ENSG00000154864:ENST00000285141:exon3:c.G51T:p.K17N;ENSG00000154864:ENST00000503781:exon41:c.G6486T:p.K2162N;ENSG00000154864:ENST00000538948:exon3:c.G357T:p.K119N;ENSG00000154864:ENST00000302079:exon41:c.G6486T:p.K2162N;	0.0129133466296202	0.266
18	10697748	C	G	18	10697750	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.G6486C:p.K2162N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.G6561C:p.K2187N;ENSG00000154864:ENST00000285141:exon3:c.G51C:p.K17N;ENSG00000154864:ENST00000503781:exon41:c.G6486C:p.K2162N;ENSG00000154864:ENST00000538948:exon3:c.G357C:p.K119N;ENSG00000154864:ENST00000302079:exon41:c.G6486C:p.K2162N;	1.759146971064E-4	0.082
18	10697748	C	T	18	10697750	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon41:c.G6486A:p.K2162K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.G6561A:p.K2187K;ENSG00000154864:ENST00000285141:exon3:c.G51A:p.K17K;ENSG00000154864:ENST00000503781:exon41:c.G6486A:p.K2162K;ENSG00000154864:ENST00000538948:exon3:c.G357A:p.K119K;ENSG00000154864:ENST00000302079:exon41:c.G6486A:p.K2162K;	5.6792666923673E-5	0.002
18	10697877	G	A	18	10697879	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon41:c.C6357T:p.G2119G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.C6432T:p.G2144G;ENSG00000154864:ENST00000503781:exon41:c.C6357T:p.G2119G;ENSG00000154864:ENST00000538948:exon3:c.C228T:p.G76G;ENSG00000154864:ENST00000302079:exon41:c.C6357T:p.G2119G;	1.26306805141729E-4	0.004
18	10697877	G	C	18	10697879	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon41:c.C6357G:p.G2119G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.C6432G:p.G2144G;ENSG00000154864:ENST00000503781:exon41:c.C6357G:p.G2119G;ENSG00000154864:ENST00000538948:exon3:c.C228G:p.G76G;ENSG00000154864:ENST00000302079:exon41:c.C6357G:p.G2119G;	4.81265011575324E-5	0.014
18	10697877	G	T	18	10697879	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon41:c.C6357A:p.G2119G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.C6432A:p.G2144G;ENSG00000154864:ENST00000503781:exon41:c.C6357A:p.G2119G;ENSG00000154864:ENST00000538948:exon3:c.C228A:p.G76G;ENSG00000154864:ENST00000302079:exon41:c.C6357A:p.G2119G;	7.88916037201101E-5	0.002
18	10697878	C	A	18	10697880	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.G6356T:p.G2119V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.G6431T:p.G2144V;ENSG00000154864:ENST00000503781:exon41:c.G6356T:p.G2119V;ENSG00000154864:ENST00000538948:exon3:c.G227T:p.G76V;ENSG00000154864:ENST00000302079:exon41:c.G6356T:p.G2119V;	0.999738300442347	0.924
18	10697878	C	G	18	10697880	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.G6356C:p.G2119A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.G6431C:p.G2144A;ENSG00000154864:ENST00000503781:exon41:c.G6356C:p.G2119A;ENSG00000154864:ENST00000538948:exon3:c.G227C:p.G76A;ENSG00000154864:ENST00000302079:exon41:c.G6356C:p.G2119A;	0.999643020553819	0.918
18	10697878	C	T	18	10697880	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon41:c.G6356A:p.G2119D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon43:c.G6431A:p.G2144D;ENSG00000154864:ENST00000503781:exon41:c.G6356A:p.G2119D;ENSG00000154864:ENST00000538948:exon3:c.G227A:p.G76D;ENSG00000154864:ENST00000302079:exon41:c.G6356A:p.G2119D;	0.998718494160249	0.844
18	10697879	C	A	18	10697881	y	y	splicing	PIEZO2(NM_022068:exon42:c.6356-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6356-1G>T;ENST00000538948:exon4:c.227-1G>T;ENST00000582913:exon44:c.6562-1G>T;ENST00000503781:exon42:c.6356-1G>T;ENST00000580640:exon44:c.6431-1G>T)	.	.	0.999990361384395	0.938
18	10697879	C	G	18	10697881	y	y	splicing	PIEZO2(NM_022068:exon42:c.6356-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6356-1G>C;ENST00000538948:exon4:c.227-1G>C;ENST00000582913:exon44:c.6562-1G>C;ENST00000503781:exon42:c.6356-1G>C;ENST00000580640:exon44:c.6431-1G>C)	.	.	0.999990361384395	0.938
18	10697879	C	T	18	10697881	y	y	splicing	PIEZO2(NM_022068:exon42:c.6356-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6356-1G>A;ENST00000538948:exon4:c.227-1G>A;ENST00000582913:exon44:c.6562-1G>A;ENST00000503781:exon42:c.6356-1G>A;ENST00000580640:exon44:c.6431-1G>A)	.	.	0.999990361384395	0.938
18	10697880	T	A	18	10697882	y	y	splicing	PIEZO2(NM_022068:exon42:c.6356-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6356-2A>T;ENST00000538948:exon4:c.227-2A>T;ENST00000582913:exon44:c.6562-2A>T;ENST00000503781:exon42:c.6356-2A>T;ENST00000580640:exon44:c.6431-2A>T)	.	.	0.999988247793601	0.93
18	10697880	T	C	18	10697882	y	y	splicing	PIEZO2(NM_022068:exon42:c.6356-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6356-2A>G;ENST00000538948:exon4:c.227-2A>G;ENST00000582913:exon44:c.6562-2A>G;ENST00000503781:exon42:c.6356-2A>G;ENST00000580640:exon44:c.6431-2A>G)	.	.	0.999988247793601	0.93
18	10697880	T	G	18	10697882	y	y	splicing	PIEZO2(NM_022068:exon42:c.6356-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon42:c.6356-2A>C;ENST00000538948:exon4:c.227-2A>C;ENST00000582913:exon44:c.6562-2A>C;ENST00000503781:exon42:c.6356-2A>C;ENST00000580640:exon44:c.6431-2A>C)	.	.	0.999988247793601	0.93
18	10697881	A	C	18	10697883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.879766476584667	0.596
18	10697881	A	G	18	10697883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.98054684962403E-5	0.01
18	10697881	A	T	18	10697883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00587540199164219	0.228
18	10697882	G	A	18	10697884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.26662073036699E-4	0.004
18	10697882	G	C	18	10697884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00149357589624553	0.032
18	10697882	G	T	18	10697884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00126350364466472	0.014
18	10697883	A	C	18	10697885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00890997804693684	0.244
18	10697883	A	G	18	10697885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00135828717628475	0.022
18	10697883	A	T	18	10697885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00791366830941418	0.188
18	10697884	A	C	18	10697886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00260951588308332	0.178
18	10697884	A	G	18	10697886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.68428774576364E-5	0.062
18	10697884	A	T	18	10697886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.41888768021446E-5	0.108
18	10697885	A	C	18	10697887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999151038262972	0.934
18	10697885	A	G	18	10697887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.39336592483021E-5	0.036
18	10697885	A	T	18	10697887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.95707428037136E-4	0.054
18	10697886	T	A	18	10697888	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.9508231552377E-5	0.012
18	10697886	T	C	18	10697888	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.49132817291231E-5	0.02
18	10697886	T	G	18	10697888	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.3914735427043E-5	0.014
18	10697887	A	C	18	10697889	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03037504840755E-4	0.138
18	10697887	A	G	18	10697889	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.31890364065889E-5	0.086
18	10697887	A	T	18	10697889	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.39531389055145E-5	0.116
18	10697888	A	C	18	10697890	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.59763208770932E-5	0.064
18	10697888	A	G	18	10697890	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.10841247877616E-6	0.02
18	10697888	A	T	18	10697890	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.73199057721344E-5	0.098
18	10697889	A	C	18	10697891	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.0317719713973E-5	0.168
18	10697889	A	G	18	10697891	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.61893868332944E-5	0.068
18	10697889	A	T	18	10697891	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.44303977480366E-4	0.294
18	10697890	A	C	18	10697892	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.664235276827583	0.592
18	10697890	A	G	18	10697892	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.473009323815289	0.486
18	10697890	A	T	18	10697892	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.624894025883076	0.662
18	10698915	A	C	18	10698917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.4233944015496E-4	0.028
18	10698915	A	G	18	10698917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.61518938904593E-4	0.0
18	10698915	A	T	18	10698917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.91827824152939E-4	0.0
18	10698916	C	A	18	10698918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.98229175164634E-5	0.0
18	10698916	C	G	18	10698918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.20636720628978E-5	0.0
18	10698916	C	T	18	10698918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.60874194217966E-5	0.0
18	10698917	A	C	18	10698919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.04071188110127E-4	0.088
18	10698917	A	G	18	10698919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.68106948880053E-4	0.226
18	10698917	A	T	18	10698919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00104341635865878	0.046
18	10698918	G	A	18	10698920	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.77929373867351E-5	0.002
18	10698918	G	C	18	10698920	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03019350780272E-4	0.016
18	10698918	G	T	18	10698920	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.95974430875705E-5	0.006
18	10698919	A	C	18	10698921	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.87286923995743E-5	0.108
18	10698919	A	G	18	10698921	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.92467065158825E-5	0.002
18	10698919	A	T	18	10698921	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.27081206563831E-5	0.006
18	10698920	T	A	18	10698922	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99978793633048	0.932
18	10698920	T	C	18	10698922	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999175802258693	0.69
18	10698920	T	G	18	10698922	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999756595051633	0.922
18	10698921	A	C	18	10698923	y	y	splicing	PIEZO2(NM_022068:exon41:c.6355+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6355+2T>G;ENST00000538948:exon3:c.226+2T>G;ENST00000582913:exon43:c.6561+2T>G;ENST00000503781:exon41:c.6355+2T>G;ENST00000580640:exon43:c.6430+2T>G)	.	.	0.999988247793601	0.93
18	10698921	A	G	18	10698923	y	y	splicing	PIEZO2(NM_022068:exon41:c.6355+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6355+2T>C;ENST00000538948:exon3:c.226+2T>C;ENST00000582913:exon43:c.6561+2T>C;ENST00000503781:exon41:c.6355+2T>C;ENST00000580640:exon43:c.6430+2T>C)	.	.	0.994877988051647	0.722
18	10698921	A	T	18	10698923	y	y	splicing	PIEZO2(NM_022068:exon41:c.6355+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6355+2T>A;ENST00000538948:exon3:c.226+2T>A;ENST00000582913:exon43:c.6561+2T>A;ENST00000503781:exon41:c.6355+2T>A;ENST00000580640:exon43:c.6430+2T>A)	.	.	0.999988247793601	0.93
18	10698922	C	A	18	10698924	y	y	splicing	PIEZO2(NM_022068:exon41:c.6355+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6355+1G>T;ENST00000538948:exon3:c.226+1G>T;ENST00000582913:exon43:c.6561+1G>T;ENST00000503781:exon41:c.6355+1G>T;ENST00000580640:exon43:c.6430+1G>T)	.	.	0.999990361384395	0.938
18	10698922	C	G	18	10698924	y	y	splicing	PIEZO2(NM_022068:exon41:c.6355+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6355+1G>C;ENST00000538948:exon3:c.226+1G>C;ENST00000582913:exon43:c.6561+1G>C;ENST00000503781:exon41:c.6355+1G>C;ENST00000580640:exon43:c.6430+1G>C)	.	.	0.999990361384395	0.938
18	10698922	C	T	18	10698924	y	y	splicing	PIEZO2(NM_022068:exon41:c.6355+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6355+1G>A;ENST00000538948:exon3:c.226+1G>A;ENST00000582913:exon43:c.6561+1G>A;ENST00000503781:exon41:c.6355+1G>A;ENST00000580640:exon43:c.6430+1G>A)	.	.	0.999990361384395	0.938
18	10698923	C	A	18	10698925	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6355T:p.G2119C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6430T:p.G2144C;ENSG00000154864:ENST00000503781:exon40:c.G6355T:p.G2119C;ENSG00000154864:ENST00000538948:exon2:c.G226T:p.G76C;ENSG00000154864:ENST00000302079:exon40:c.G6355T:p.G2119C;	0.999973854772568	0.968
18	10698923	C	G	18	10698925	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6355C:p.G2119R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6430C:p.G2144R;ENSG00000154864:ENST00000503781:exon40:c.G6355C:p.G2119R;ENSG00000154864:ENST00000538948:exon2:c.G226C:p.G76R;ENSG00000154864:ENST00000302079:exon40:c.G6355C:p.G2119R;	0.999995208313075	1.0
18	10698923	C	T	18	10698925	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6355A:p.G2119S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6430A:p.G2144S;ENSG00000154864:ENST00000503781:exon40:c.G6355A:p.G2119S;ENSG00000154864:ENST00000538948:exon2:c.G226A:p.G76S;ENSG00000154864:ENST00000302079:exon40:c.G6355A:p.G2119S;	0.999990015207805	1.0
18	10698924	T	A	18	10698926	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.A6354T:p.R2118S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.A6429T:p.R2143S;ENSG00000154864:ENST00000503781:exon40:c.A6354T:p.R2118S;ENSG00000154864:ENST00000538948:exon2:c.A225T:p.R75S;ENSG00000154864:ENST00000302079:exon40:c.A6354T:p.R2118S;	0.999964758696707	0.992
18	10698924	T	C	18	10698926	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon40:c.A6354G:p.R2118R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.A6429G:p.R2143R;ENSG00000154864:ENST00000503781:exon40:c.A6354G:p.R2118R;ENSG00000154864:ENST00000538948:exon2:c.A225G:p.R75R;ENSG00000154864:ENST00000302079:exon40:c.A6354G:p.R2118R;	0.999941321717597	0.994
18	10698924	T	G	18	10698926	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.A6354C:p.R2118S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.A6429C:p.R2143S;ENSG00000154864:ENST00000503781:exon40:c.A6354C:p.R2118S;ENSG00000154864:ENST00000538948:exon2:c.A225C:p.R75S;ENSG00000154864:ENST00000302079:exon40:c.A6354C:p.R2118S;	0.999791014118043	0.996
18	10698925	C	A	18	10698927	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6353T:p.R2118I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6428T:p.R2143I;ENSG00000154864:ENST00000503781:exon40:c.G6353T:p.R2118I;ENSG00000154864:ENST00000538948:exon2:c.G224T:p.R75I;ENSG00000154864:ENST00000302079:exon40:c.G6353T:p.R2118I;	0.982204061785211	0.7
18	10698925	C	G	18	10698927	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6353C:p.R2118T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6428C:p.R2143T;ENSG00000154864:ENST00000503781:exon40:c.G6353C:p.R2118T;ENSG00000154864:ENST00000538948:exon2:c.G224C:p.R75T;ENSG00000154864:ENST00000302079:exon40:c.G6353C:p.R2118T;	0.950237228146541	0.646
18	10698925	C	T	18	10698927	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6353A:p.R2118K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6428A:p.R2143K;ENSG00000154864:ENST00000503781:exon40:c.G6353A:p.R2118K;ENSG00000154864:ENST00000538948:exon2:c.G224A:p.R75K;ENSG00000154864:ENST00000302079:exon40:c.G6353A:p.R2118K;	0.957317523682655	0.766
18	10699174	C	A	18	10699176	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6104T:p.C2035F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6179T:p.C2060F;ENSG00000154864:ENST00000503781:exon40:c.G6104T:p.C2035F;ENSG00000154864:ENST00000302079:exon40:c.G6104T:p.C2035F;	0.450370427226869	0.376
18	10699174	C	G	18	10699176	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6104C:p.C2035S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6179C:p.C2060S;ENSG00000154864:ENST00000503781:exon40:c.G6104C:p.C2035S;ENSG00000154864:ENST00000302079:exon40:c.G6104C:p.C2035S;	0.887476763053379	0.566
18	10699174	C	T	18	10699176	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.G6104A:p.C2035Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.G6179A:p.C2060Y;ENSG00000154864:ENST00000503781:exon40:c.G6104A:p.C2035Y;ENSG00000154864:ENST00000302079:exon40:c.G6104A:p.C2035Y;	0.859917083045589	0.512
18	10699175	A	C	18	10699177	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.T6103G:p.C2035G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.T6178G:p.C2060G;ENSG00000154864:ENST00000503781:exon40:c.T6103G:p.C2035G;ENSG00000154864:ENST00000302079:exon40:c.T6103G:p.C2035G;	0.00522193069483478	0.106
18	10699175	A	G	18	10699177	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.T6103C:p.C2035R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.T6178C:p.C2060R;ENSG00000154864:ENST00000503781:exon40:c.T6103C:p.C2035R;ENSG00000154864:ENST00000302079:exon40:c.T6103C:p.C2035R;	0.0149236634495286	0.072
18	10699175	A	T	18	10699177	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon40:c.T6103A:p.C2035S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon42:c.T6178A:p.C2060S;ENSG00000154864:ENST00000503781:exon40:c.T6103A:p.C2035S;ENSG00000154864:ENST00000302079:exon40:c.T6103A:p.C2035S;	0.102978730816414	0.338
18	10699176	C	A	18	10699178	y	y	splicing	PIEZO2(NM_022068:exon41:c.6103-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6103-1G>T;ENST00000582913:exon43:c.6309-1G>T;ENST00000503781:exon41:c.6103-1G>T;ENST00000580640:exon43:c.6178-1G>T)	.	.	0.999990361384395	0.944
18	10699176	C	G	18	10699178	y	y	splicing	PIEZO2(NM_022068:exon41:c.6103-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6103-1G>C;ENST00000582913:exon43:c.6309-1G>C;ENST00000503781:exon41:c.6103-1G>C;ENST00000580640:exon43:c.6178-1G>C)	.	.	0.999990361384395	0.944
18	10699176	C	T	18	10699178	y	y	splicing	PIEZO2(NM_022068:exon41:c.6103-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6103-1G>A;ENST00000582913:exon43:c.6309-1G>A;ENST00000503781:exon41:c.6103-1G>A;ENST00000580640:exon43:c.6178-1G>A)	.	.	0.999990361384395	0.944
18	10699177	T	A	18	10699179	y	y	splicing	PIEZO2(NM_022068:exon41:c.6103-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6103-2A>T;ENST00000582913:exon43:c.6309-2A>T;ENST00000503781:exon41:c.6103-2A>T;ENST00000580640:exon43:c.6178-2A>T)	.	.	0.999988247793601	0.938
18	10699177	T	C	18	10699179	y	y	splicing	PIEZO2(NM_022068:exon41:c.6103-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6103-2A>G;ENST00000582913:exon43:c.6309-2A>G;ENST00000503781:exon41:c.6103-2A>G;ENST00000580640:exon43:c.6178-2A>G)	.	.	0.999988247793601	0.938
18	10699177	T	G	18	10699179	y	y	splicing	PIEZO2(NM_022068:exon41:c.6103-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon41:c.6103-2A>C;ENST00000582913:exon43:c.6309-2A>C;ENST00000503781:exon41:c.6103-2A>C;ENST00000580640:exon43:c.6178-2A>C)	.	.	0.999988247793601	0.938
18	10699178	G	A	18	10699180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0401473358867303	0.15
18	10699178	G	C	18	10699180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999907686235089	0.97
18	10699178	G	T	18	10699180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.745527606464994	0.722
18	10699179	A	C	18	10699181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.90953763005294E-5	0.01
18	10699179	A	G	18	10699181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.6384705743704E-5	0.002
18	10699179	A	T	18	10699181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.6136568203423E-4	0.004
18	10699180	G	A	18	10699182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.15957218439022E-5	0.0
18	10699180	G	C	18	10699182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00322991599511644	0.162
18	10699180	G	T	18	10699182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.01703830330926E-4	0.074
18	10699181	A	C	18	10699183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00312402614089009	0.158
18	10699181	A	G	18	10699183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.84808430748659E-5	0.002
18	10699181	A	T	18	10699183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0108949444035703	0.186
18	10699182	A	C	18	10699184	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.81136048799881E-4	0.056
18	10699182	A	G	18	10699184	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.62529362959974E-5	0.006
18	10699182	A	T	18	10699184	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0157843429586537	0.194
18	10699183	A	C	18	10699185	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.58756847953202E-4	0.098
18	10699183	A	G	18	10699185	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.85939609251057E-5	0.072
18	10699183	A	T	18	10699185	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0014702661281573	0.07
18	10699184	G	A	18	10699186	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.67446062198784E-5	0.056
18	10699184	G	C	18	10699186	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.53253591838385E-4	0.106
18	10699184	G	T	18	10699186	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.16016796592785E-4	0.116
18	10699185	C	A	18	10699187	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.54393222188833E-4	0.092
18	10699185	C	G	18	10699187	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.10613651706157E-4	0.098
18	10699185	C	T	18	10699187	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0015805869569348	0.242
18	10699186	A	C	18	10699188	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0212997483948179	0.346
18	10699186	A	G	18	10699188	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00713325230825145	0.218
18	10699186	A	T	18	10699188	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999992161823026	0.936
18	10699187	G	A	18	10699189	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.13050911107892E-5	0.014
18	10699187	G	C	18	10699189	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.29272314007324E-4	0.202
18	10699187	G	T	18	10699189	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.74673511074157E-4	0.124
18	10701859	G	A	18	10701861	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.10138825602451E-5	0.002
18	10701859	G	C	18	10701861	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.10138825602451E-5	0.004
18	10701859	G	T	18	10701861	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.10138825602451E-5	0.002
18	10701860	T	A	18	10701862	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.78929785447708E-5	0.0
18	10701860	T	C	18	10701862	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.78929785447708E-5	0.0
18	10701860	T	G	18	10701862	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.78929785447708E-5	0.0
18	10701861	A	C	18	10701863	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.37574485200314E-5	0.0
18	10701861	A	G	18	10701863	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.37574485200314E-5	0.0
18	10701861	A	T	18	10701863	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.37574485200314E-5	0.0
18	10701862	G	A	18	10701864	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.5364181533214E-5	0.0
18	10701862	G	C	18	10701864	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.27456659313109E-5	0.0
18	10701862	G	T	18	10701864	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.27456659313109E-5	0.0
18	10701863	A	C	18	10701865	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.24975915077222E-5	0.0
18	10701863	A	G	18	10701865	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.24975915077222E-5	0.0
18	10701863	A	T	18	10701865	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.24975915077222E-5	0.0
18	10701864	T	A	18	10701866	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.64905445396362E-5	0.0
18	10701864	T	C	18	10701866	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.7586829694842E-5	0.0
18	10701864	T	G	18	10701866	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.7586829694842E-5	0.0
18	10701865	A	C	18	10701867	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	1.19968344336854E-5	0.008
18	10701865	A	G	18	10701867	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	1.19968344336854E-5	0.008
18	10701865	A	T	18	10701867	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	1.19968344336854E-5	0.04
18	10701866	C	A	18	10701868	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	2.39429174022201E-5	0.0
18	10701866	C	G	18	10701868	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	2.39429174022201E-5	0.0
18	10701866	C	T	18	10701868	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	2.39429174022201E-5	0.0
18	10701867	C	A	18	10701869	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	8.71037690926497E-5	0.004
18	10701867	C	G	18	10701869	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	8.71037690926497E-5	0.0
18	10701867	C	T	18	10701869	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	6.51383879749987E-5	0.006
18	10701868	A	C	18	10701870	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	4.97864243205666E-5	0.0
18	10701868	A	G	18	10701870	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	4.97864243205666E-5	0.0
18	10701868	A	T	18	10701870	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	5.37205498882069E-5	0.0
18	10701869	C	A	18	10701871	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	6.89925739660516E-5	0.004
18	10701869	C	G	18	10701871	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	3.31929338280547E-5	0.0
18	10701869	C	T	18	10701871	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	6.89925739660516E-5	0.004
18	10701979	T	A	18	10701981	y	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	9.96033753714289E-5	0.008
18	10701979	T	C	18	10701981	y	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	3.42087561587765E-5	0.002
18	10701979	T	G	18	10701981	y	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	1.06863456351686E-4	0.004
18	10701980	G	A	18	10701982	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00117878674696432	0.022
18	10701980	G	C	18	10701982	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.07014835428848E-5	0.0
18	10701980	G	T	18	10701982	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00117878674696432	0.014
18	10701981	C	A	18	10701983	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.22324660413101E-5	0.056
18	10701981	C	G	18	10701983	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.05214917428584E-4	0.016
18	10701981	C	T	18	10701983	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.62186433133288E-4	0.04
18	10701982	A	C	18	10701984	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.00328156906875E-5	0.002
18	10701982	A	G	18	10701984	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.76330291269474E-6	0.002
18	10701982	A	T	18	10701984	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.12783531590242E-5	0.016
18	10701983	G	A	18	10701985	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.00707897272389E-4	0.022
18	10701983	G	C	18	10701985	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00114765098273835	0.054
18	10701983	G	T	18	10701985	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.16496384322695E-5	0.016
18	10701984	T	A	18	10701986	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999729733113448	0.972
18	10701984	T	C	18	10701986	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.927107408730995	0.834
18	10701984	T	G	18	10701986	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999879017363022	0.954
18	10701985	A	C	18	10701987	y	y	splicing	PIEZO2(NM_022068:exon40:c.6102+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.6102+2T>G;ENST00000582913:exon42:c.6308+2T>G;ENST00000503781:exon40:c.6102+2T>G;ENST00000580640:exon42:c.6177+2T>G)	.	.	0.999957317860884	0.936
18	10701985	A	G	18	10701987	y	y	splicing	PIEZO2(NM_022068:exon40:c.6102+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.6102+2T>C;ENST00000582913:exon42:c.6308+2T>C;ENST00000503781:exon40:c.6102+2T>C;ENST00000580640:exon42:c.6177+2T>C)	.	.	0.988272974527119	0.676
18	10701985	A	T	18	10701987	y	y	splicing	PIEZO2(NM_022068:exon40:c.6102+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.6102+2T>A;ENST00000582913:exon42:c.6308+2T>A;ENST00000503781:exon40:c.6102+2T>A;ENST00000580640:exon42:c.6177+2T>A)	.	.	0.999983459627143	0.936
18	10701986	C	A	18	10701988	y	y	splicing	PIEZO2(NM_022068:exon40:c.6102+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.6102+1G>T;ENST00000582913:exon42:c.6308+1G>T;ENST00000503781:exon40:c.6102+1G>T;ENST00000580640:exon42:c.6177+1G>T)	.	.	0.999988630721284	0.938
18	10701986	C	G	18	10701988	y	y	splicing	PIEZO2(NM_022068:exon40:c.6102+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.6102+1G>C;ENST00000582913:exon42:c.6308+1G>C;ENST00000503781:exon40:c.6102+1G>C;ENST00000580640:exon42:c.6177+1G>C)	.	.	0.999988630721284	0.938
18	10701986	C	T	18	10701988	y	y	splicing	PIEZO2(NM_022068:exon40:c.6102+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.6102+1G>A;ENST00000582913:exon42:c.6308+1G>A;ENST00000503781:exon40:c.6102+1G>A;ENST00000580640:exon42:c.6177+1G>A)	.	.	0.999988630721284	0.94
18	10701987	C	A	18	10701989	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.G6102T:p.K2034N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.G6177T:p.K2059N;ENSG00000154864:ENST00000503781:exon39:c.G6102T:p.K2034N;ENSG00000154864:ENST00000302079:exon39:c.G6102T:p.K2034N;	0.999993621649644	1.0
18	10701987	C	G	18	10701989	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.G6102C:p.K2034N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.G6177C:p.K2059N;ENSG00000154864:ENST00000503781:exon39:c.G6102C:p.K2034N;ENSG00000154864:ENST00000302079:exon39:c.G6102C:p.K2034N;	0.999997098312425	1.0
18	10701987	C	T	18	10701989	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon39:c.G6102A:p.K2034K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.G6177A:p.K2059K;ENSG00000154864:ENST00000503781:exon39:c.G6102A:p.K2034K;ENSG00000154864:ENST00000302079:exon39:c.G6102A:p.K2034K;	0.999994671552521	1.0
18	10701988	T	A	18	10701990	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.A6101T:p.K2034M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.A6176T:p.K2059M;ENSG00000154864:ENST00000503781:exon39:c.A6101T:p.K2034M;ENSG00000154864:ENST00000302079:exon39:c.A6101T:p.K2034M;	0.999226765035546	0.988
18	10701988	T	C	18	10701990	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.A6101G:p.K2034R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.A6176G:p.K2059R;ENSG00000154864:ENST00000503781:exon39:c.A6101G:p.K2034R;ENSG00000154864:ENST00000302079:exon39:c.A6101G:p.K2034R;	0.999506901088483	0.996
18	10701988	T	G	18	10701990	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.A6101C:p.K2034T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.A6176C:p.K2059T;ENSG00000154864:ENST00000503781:exon39:c.A6101C:p.K2034T;ENSG00000154864:ENST00000302079:exon39:c.A6101C:p.K2034T;	0.999240660918085	0.964
18	10701989	T	A	18	10701991	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon39:c.A6100T:p.K2034X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon41:c.A6175T:p.K2059X;ENSG00000154864:ENST00000503781:exon39:c.A6100T:p.K2034X;ENSG00000154864:ENST00000302079:exon39:c.A6100T:p.K2034X;	0.999371100325593	0.896
18	10701989	T	C	18	10701991	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.A6100G:p.K2034E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.A6175G:p.K2059E;ENSG00000154864:ENST00000503781:exon39:c.A6100G:p.K2034E;ENSG00000154864:ENST00000302079:exon39:c.A6100G:p.K2034E;	0.846801510618995	0.48
18	10701989	T	G	18	10701991	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.A6100C:p.K2034Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.A6175C:p.K2059Q;ENSG00000154864:ENST00000503781:exon39:c.A6100C:p.K2034Q;ENSG00000154864:ENST00000302079:exon39:c.A6100C:p.K2034Q;	0.045875204902432	0.296
18	10702168	A	C	18	10702170	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.T5921G:p.V1974G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.T5996G:p.V1999G;ENSG00000154864:ENST00000503781:exon39:c.T5921G:p.V1974G;ENSG00000154864:ENST00000302079:exon39:c.T5921G:p.V1974G;	0.00580845738050934	0.084
18	10702168	A	G	18	10702170	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.T5921C:p.V1974A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.T5996C:p.V1999A;ENSG00000154864:ENST00000503781:exon39:c.T5921C:p.V1974A;ENSG00000154864:ENST00000302079:exon39:c.T5921C:p.V1974A;	0.00859356199446244	0.094
18	10702168	A	T	18	10702170	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.T5921A:p.V1974E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.T5996A:p.V1999E;ENSG00000154864:ENST00000503781:exon39:c.T5921A:p.V1974E;ENSG00000154864:ENST00000302079:exon39:c.T5921A:p.V1974E;	0.0026039669437972	0.088
18	10702169	C	A	18	10702171	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.G5920T:p.V1974L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.G5995T:p.V1999L;ENSG00000154864:ENST00000503781:exon39:c.G5920T:p.V1974L;ENSG00000154864:ENST00000302079:exon39:c.G5920T:p.V1974L;	0.999938546367277	0.986
18	10702169	C	G	18	10702171	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.G5920C:p.V1974L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.G5995C:p.V1999L;ENSG00000154864:ENST00000503781:exon39:c.G5920C:p.V1974L;ENSG00000154864:ENST00000302079:exon39:c.G5920C:p.V1974L;	0.999629753451452	0.928
18	10702169	C	T	18	10702171	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon39:c.G5920A:p.V1974M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon41:c.G5995A:p.V1999M;ENSG00000154864:ENST00000503781:exon39:c.G5920A:p.V1974M;ENSG00000154864:ENST00000302079:exon39:c.G5920A:p.V1974M;	0.99916895606555	0.872
18	10702170	C	A	18	10702172	y	y	splicing	PIEZO2(NM_022068:exon40:c.5920-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.5920-1G>T;ENST00000582913:exon42:c.6126-1G>T;ENST00000503781:exon40:c.5920-1G>T;ENST00000580640:exon42:c.5995-1G>T)	.	.	0.999992425382947	0.942
18	10702170	C	G	18	10702172	y	y	splicing	PIEZO2(NM_022068:exon40:c.5920-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.5920-1G>C;ENST00000582913:exon42:c.6126-1G>C;ENST00000503781:exon40:c.5920-1G>C;ENST00000580640:exon42:c.5995-1G>C)	.	.	0.999992425382947	0.942
18	10702170	C	T	18	10702172	y	y	splicing	PIEZO2(NM_022068:exon40:c.5920-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.5920-1G>A;ENST00000582913:exon42:c.6126-1G>A;ENST00000503781:exon40:c.5920-1G>A;ENST00000580640:exon42:c.5995-1G>A)	.	.	0.999992425382947	0.942
18	10702171	T	A	18	10702173	y	y	splicing	PIEZO2(NM_022068:exon40:c.5920-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.5920-2A>T;ENST00000582913:exon42:c.6126-2A>T;ENST00000503781:exon40:c.5920-2A>T;ENST00000580640:exon42:c.5995-2A>T)	.	.	0.999990764389106	0.944
18	10702171	T	C	18	10702173	y	y	splicing	PIEZO2(NM_022068:exon40:c.5920-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.5920-2A>G;ENST00000582913:exon42:c.6126-2A>G;ENST00000503781:exon40:c.5920-2A>G;ENST00000580640:exon42:c.5995-2A>G)	.	.	0.999990764389106	0.944
18	10702171	T	G	18	10702173	y	y	splicing	PIEZO2(NM_022068:exon40:c.5920-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon40:c.5920-2A>C;ENST00000582913:exon42:c.6126-2A>C;ENST00000503781:exon40:c.5920-2A>C;ENST00000580640:exon42:c.5995-2A>C)	.	.	0.999990764389106	0.944
18	10702172	A	C	18	10702174	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.980644942511798	0.67
18	10702172	A	G	18	10702174	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.61289276316578E-5	0.156
18	10702172	A	T	18	10702174	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00979600665439511	0.298
18	10702173	C	A	18	10702175	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.33435712980684E-4	0.004
18	10702173	C	G	18	10702175	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.92940843799248E-5	0.002
18	10702173	C	T	18	10702175	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.61734748324797E-4	0.0
18	10702174	G	A	18	10702176	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.05893574894047E-5	0.024
18	10702174	G	C	18	10702176	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.814427491183E-4	0.098
18	10702174	G	T	18	10702176	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.994317266866377	0.832
18	10702175	C	A	18	10702177	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.58889596461002E-5	0.004
18	10702175	C	G	18	10702177	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.14901980849306E-5	0.004
18	10702175	C	T	18	10702177	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.05373544856527E-5	0.002
18	10702176	A	C	18	10702178	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00593167884549308	0.232
18	10702176	A	G	18	10702178	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.69611278478713E-4	0.03
18	10702176	A	T	18	10702178	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999543331580948	0.9
18	10702177	C	A	18	10702179	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.22985087990956E-5	0.004
18	10702177	C	G	18	10702179	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.05753433461087E-5	0.002
18	10702177	C	T	18	10702179	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.09518774578714E-4	0.074
18	10702178	A	C	18	10702180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0730171031739761	0.454
18	10702178	A	G	18	10702180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.75259883605281E-4	0.068
18	10702178	A	T	18	10702180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999938788806203	0.894
18	10702179	G	A	18	10702181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.98059049070833E-5	0.018
18	10702179	G	C	18	10702181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00287358400214989	0.084
18	10702179	G	T	18	10702181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.77048302216208E-4	0.072
18	10702180	A	C	18	10702182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999982862735044	0.922
18	10702180	A	G	18	10702182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.17225255610215	0.38
18	10702180	A	T	18	10702182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997118250961957	0.816
18	10702181	T	A	18	10702183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.49598647860449E-5	0.078
18	10702181	T	C	18	10702183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.39058764530826E-5	0.052
18	10702181	T	G	18	10702183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.15106515690473E-5	0.004
18	10704384	A	C	18	10704386	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	2.3995392500311E-5	0.0
18	10704384	A	G	18	10704386	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	5.88102994485347E-5	0.0
18	10704384	A	T	18	10704386	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	6.43949593129782E-5	0.0
18	10704385	G	A	18	10704387	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.94652602338509E-4	0.0
18	10704385	G	C	18	10704387	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.07016094304005E-4	0.0
18	10704385	G	T	18	10704387	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.24395258665275E-4	0.002
18	10704386	G	A	18	10704388	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.13993173363467E-4	0.004
18	10704386	G	C	18	10704388	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.72712092431565E-4	0.058
18	10704386	G	T	18	10704388	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.04777893446323E-4	0.018
18	10704387	C	A	18	10704389	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.999954751867101	0.886
18	10704387	C	G	18	10704389	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.999797387993848	0.938
18	10704387	C	T	18	10704389	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.999923361206779	0.978
18	10704388	C	A	18	10704390	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.63284276705981E-4	0.05
18	10704388	C	G	18	10704390	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.96975471850463E-4	0.124
18	10704388	C	T	18	10704390	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.98714522305084E-4	0.084
18	10704389	T	A	18	10704391	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.978213687862565	0.84
18	10704389	T	C	18	10704391	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.302870619967824	0.526
18	10704389	T	G	18	10704391	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.96609848655663	0.838
18	10704390	A	C	18	10704392	y	y	splicing	PIEZO2(NM_022068:exon39:c.5919+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5919+2T>G;ENST00000582913:exon41:c.6125+2T>G;ENST00000503781:exon39:c.5919+2T>G;ENST00000580640:exon41:c.5994+2T>G)	.	.	0.999978952611685	0.928
18	10704390	A	G	18	10704392	y	y	splicing	PIEZO2(NM_022068:exon39:c.5919+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5919+2T>C;ENST00000582913:exon41:c.6125+2T>C;ENST00000503781:exon39:c.5919+2T>C;ENST00000580640:exon41:c.5994+2T>C)	.	.	0.995550480548773	0.662
18	10704390	A	T	18	10704392	y	y	splicing	PIEZO2(NM_022068:exon39:c.5919+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5919+2T>A;ENST00000582913:exon41:c.6125+2T>A;ENST00000503781:exon39:c.5919+2T>A;ENST00000580640:exon41:c.5994+2T>A)	.	.	0.999988247793601	0.926
18	10704391	C	A	18	10704393	y	y	splicing	PIEZO2(NM_022068:exon39:c.5919+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5919+1G>T;ENST00000582913:exon41:c.6125+1G>T;ENST00000503781:exon39:c.5919+1G>T;ENST00000580640:exon41:c.5994+1G>T)	.	.	0.999969205341567	0.946
18	10704391	C	G	18	10704393	y	y	splicing	PIEZO2(NM_022068:exon39:c.5919+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5919+1G>C;ENST00000582913:exon41:c.6125+1G>C;ENST00000503781:exon39:c.5919+1G>C;ENST00000580640:exon41:c.5994+1G>C)	.	.	0.999969205341567	0.95
18	10704391	C	T	18	10704393	y	y	splicing	PIEZO2(NM_022068:exon39:c.5919+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5919+1G>A;ENST00000582913:exon41:c.6125+1G>A;ENST00000503781:exon39:c.5919+1G>A;ENST00000580640:exon41:c.5994+1G>A)	.	.	0.999969205341567	0.946
18	10704392	C	A	18	10704394	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.G5919T:p.E1973D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.G5994T:p.E1998D;ENSG00000154864:ENST00000503781:exon38:c.G5919T:p.E1973D;ENSG00000154864:ENST00000302079:exon38:c.G5919T:p.E1973D;	0.999942424670352	0.97
18	10704392	C	G	18	10704394	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.G5919C:p.E1973D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.G5994C:p.E1998D;ENSG00000154864:ENST00000503781:exon38:c.G5919C:p.E1973D;ENSG00000154864:ENST00000302079:exon38:c.G5919C:p.E1973D;	0.999981502764589	0.988
18	10704392	C	T	18	10704394	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon38:c.G5919A:p.E1973E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.G5994A:p.E1998E;ENSG00000154864:ENST00000503781:exon38:c.G5919A:p.E1973E;ENSG00000154864:ENST00000302079:exon38:c.G5919A:p.E1973E;	0.999302809316213	0.984
18	10704393	T	A	18	10704395	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.A5918T:p.E1973V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.A5993T:p.E1998V;ENSG00000154864:ENST00000503781:exon38:c.A5918T:p.E1973V;ENSG00000154864:ENST00000302079:exon38:c.A5918T:p.E1973V;	0.999297207499513	0.974
18	10704393	T	C	18	10704395	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.A5918G:p.E1973G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.A5993G:p.E1998G;ENSG00000154864:ENST00000503781:exon38:c.A5918G:p.E1973G;ENSG00000154864:ENST00000302079:exon38:c.A5918G:p.E1973G;	0.999451523889872	0.956
18	10704393	T	G	18	10704395	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.A5918C:p.E1973A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.A5993C:p.E1998A;ENSG00000154864:ENST00000503781:exon38:c.A5918C:p.E1973A;ENSG00000154864:ENST00000302079:exon38:c.A5918C:p.E1973A;	0.898756542140443	0.808
18	10704394	C	A	18	10704396	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon38:c.G5917T:p.E1973X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon40:c.G5992T:p.E1998X;ENSG00000154864:ENST00000503781:exon38:c.G5917T:p.E1973X;ENSG00000154864:ENST00000302079:exon38:c.G5917T:p.E1973X;	0.985841794971073	0.894
18	10704394	C	G	18	10704396	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.G5917C:p.E1973Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.G5992C:p.E1998Q;ENSG00000154864:ENST00000503781:exon38:c.G5917C:p.E1973Q;ENSG00000154864:ENST00000302079:exon38:c.G5917C:p.E1973Q;	0.00224717961345459	0.036
18	10704394	C	T	18	10704396	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.G5917A:p.E1973K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.G5992A:p.E1998K;ENSG00000154864:ENST00000503781:exon38:c.G5917A:p.E1973K;ENSG00000154864:ENST00000302079:exon38:c.G5917A:p.E1973K;	0.349835516552449	0.48
18	10704649	T	A	18	10704651	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.A5662T:p.M1888L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.A5737T:p.M1913L;ENSG00000154864:ENST00000503781:exon38:c.A5662T:p.M1888L;ENSG00000154864:ENST00000302079:exon38:c.A5662T:p.M1888L;	0.00161070416915277	0.018
18	10704649	T	C	18	10704651	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.A5662G:p.M1888V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.A5737G:p.M1913V;ENSG00000154864:ENST00000503781:exon38:c.A5662G:p.M1888V;ENSG00000154864:ENST00000302079:exon38:c.A5662G:p.M1888V;	0.00106195051347853	0.024
18	10704649	T	G	18	10704651	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.A5662C:p.M1888L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.A5737C:p.M1913L;ENSG00000154864:ENST00000503781:exon38:c.A5662C:p.M1888L;ENSG00000154864:ENST00000302079:exon38:c.A5662C:p.M1888L;	0.00132260394009346	0.068
18	10704650	C	A	18	10704652	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.G5661T:p.K1887N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.G5736T:p.K1912N;ENSG00000154864:ENST00000503781:exon38:c.G5661T:p.K1887N;ENSG00000154864:ENST00000302079:exon38:c.G5661T:p.K1887N;	0.32267086666026	0.41
18	10704650	C	G	18	10704652	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon38:c.G5661C:p.K1887N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.G5736C:p.K1912N;ENSG00000154864:ENST00000503781:exon38:c.G5661C:p.K1887N;ENSG00000154864:ENST00000302079:exon38:c.G5661C:p.K1887N;	0.0409603822136032	0.362
18	10704650	C	T	18	10704652	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon38:c.G5661A:p.K1887K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon40:c.G5736A:p.K1912K;ENSG00000154864:ENST00000503781:exon38:c.G5661A:p.K1887K;ENSG00000154864:ENST00000302079:exon38:c.G5661A:p.K1887K;	0.0119366071619299	0.198
18	10704651	C	A	18	10704653	y	y	splicing	PIEZO2(NM_022068:exon39:c.5661-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5661-1G>T;ENST00000582913:exon41:c.5867-1G>T;ENST00000503781:exon39:c.5661-1G>T;ENST00000580640:exon41:c.5736-1G>T)	.	.	0.999956786857988	0.948
18	10704651	C	G	18	10704653	y	y	splicing	PIEZO2(NM_022068:exon39:c.5661-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5661-1G>C;ENST00000582913:exon41:c.5867-1G>C;ENST00000503781:exon39:c.5661-1G>C;ENST00000580640:exon41:c.5736-1G>C)	.	.	0.999956786857988	0.948
18	10704651	C	T	18	10704653	y	y	splicing	PIEZO2(NM_022068:exon39:c.5661-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5661-1G>A;ENST00000582913:exon41:c.5867-1G>A;ENST00000503781:exon39:c.5661-1G>A;ENST00000580640:exon41:c.5736-1G>A)	.	.	0.999933757597683	0.95
18	10704652	T	A	18	10704654	y	y	splicing	PIEZO2(NM_022068:exon39:c.5661-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5661-2A>T;ENST00000582913:exon41:c.5867-2A>T;ENST00000503781:exon39:c.5661-2A>T;ENST00000580640:exon41:c.5736-2A>T)	.	.	0.999964896440643	0.954
18	10704652	T	C	18	10704654	y	y	splicing	PIEZO2(NM_022068:exon39:c.5661-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5661-2A>G;ENST00000582913:exon41:c.5867-2A>G;ENST00000503781:exon39:c.5661-2A>G;ENST00000580640:exon41:c.5736-2A>G)	.	.	0.999971317418422	0.916
18	10704652	T	G	18	10704654	y	y	splicing	PIEZO2(NM_022068:exon39:c.5661-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon39:c.5661-2A>C;ENST00000582913:exon41:c.5867-2A>C;ENST00000503781:exon39:c.5661-2A>C;ENST00000580640:exon41:c.5736-2A>C)	.	.	0.999971317418422	0.916
18	10704653	G	A	18	10704655	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0205414464759429	0.188
18	10704653	G	C	18	10704655	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.99977726768013	0.902
18	10704653	G	T	18	10704655	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.959860657445406	0.658
18	10704654	T	A	18	10704656	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	5.85749217827749E-5	0.018
18	10704654	T	C	18	10704656	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.996780051368568	0.774
18	10704654	T	G	18	10704656	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.17617426725708E-4	0.07
18	10704655	T	A	18	10704657	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.22302925054054E-5	0.028
18	10704655	T	C	18	10704657	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	8.53542371579512E-5	0.138
18	10704655	T	G	18	10704657	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.15531010529173E-5	0.0
18	10704656	A	C	18	10704658	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0021445256464971	0.176
18	10704656	A	G	18	10704658	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.45509576125301E-4	0.014
18	10704656	A	T	18	10704658	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00441189364742783	0.142
18	10704657	A	C	18	10704659	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0134147753254331	0.156
18	10704657	A	G	18	10704659	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.87652516498021E-5	0.0
18	10704657	A	T	18	10704659	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.119870603723687	0.282
18	10704658	A	C	18	10704660	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.4850650931585E-4	0.022
18	10704658	A	G	18	10704660	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	7.8177303306467E-5	0.0
18	10704658	A	T	18	10704660	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	7.41294723263837E-4	0.076
18	10704659	G	A	18	10704661	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	2.08216185083195E-5	0.0
18	10704659	G	C	18	10704661	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.28048420750134E-4	0.038
18	10704659	G	T	18	10704661	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.24332443107621E-4	0.03
18	10704660	C	A	18	10704662	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.6145473046765E-5	0.008
18	10704660	C	G	18	10704662	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.6145473046765E-5	0.004
18	10704660	C	T	18	10704662	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.66102900356044E-4	0.008
18	10704661	A	C	18	10704663	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.293328879520873	0.272
18	10704661	A	G	18	10704663	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	7.24886984493322E-4	0.068
18	10704661	A	T	18	10704663	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.99965965056611	0.958
18	10704662	A	C	18	10704664	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.028723895041262	0.444
18	10704662	A	G	18	10704664	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00128210837785313	0.062
18	10704662	A	T	18	10704664	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0147943762793713	0.436
18	10705326	A	C	18	10705328	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	5.90314907228399E-5	0.0
18	10705326	A	G	18	10705328	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	4.97274993118489E-5	0.0
18	10705326	A	T	18	10705328	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	5.90314907228399E-5	0.0
18	10705327	C	A	18	10705329	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00165059265120968	0.17
18	10705327	C	G	18	10705329	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	4.09369028011069E-4	0.008
18	10705327	C	T	18	10705329	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.72667318853365E-4	0.004
18	10705328	C	A	18	10705330	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	2.75925477711919E-5	0.028
18	10705328	C	G	18	10705330	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.98832130917849E-5	0.0
18	10705328	C	T	18	10705330	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	7.26319009356251E-5	0.0
18	10705329	C	A	18	10705331	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.999965845723167	0.984
18	10705329	C	G	18	10705331	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.99973010819291	0.962
18	10705329	C	T	18	10705331	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.999976388350899	0.99
18	10705330	T	A	18	10705332	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.999441223277027	0.96
18	10705330	T	C	18	10705332	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.997767509704543	0.978
18	10705330	T	G	18	10705332	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.997816562355991	0.932
18	10705331	T	A	18	10705333	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.999818595585335	0.928
18	10705331	T	C	18	10705333	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.453224933158231	0.546
18	10705331	T	G	18	10705333	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.99975760096239	0.916
18	10705332	A	C	18	10705334	y	y	splicing	PIEZO2(NM_022068:exon38:c.5660+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5660+2T>G;ENST00000582913:exon40:c.5866+2T>G;ENST00000503781:exon38:c.5660+2T>G;ENST00000580640:exon40:c.5735+2T>G)	.	.	0.999988247793601	0.93
18	10705332	A	G	18	10705334	y	y	splicing	PIEZO2(NM_022068:exon38:c.5660+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5660+2T>C;ENST00000582913:exon40:c.5866+2T>C;ENST00000503781:exon38:c.5660+2T>C;ENST00000580640:exon40:c.5735+2T>C)	.	.	0.992577803696025	0.698
18	10705332	A	T	18	10705334	y	y	splicing	PIEZO2(NM_022068:exon38:c.5660+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5660+2T>A;ENST00000582913:exon40:c.5866+2T>A;ENST00000503781:exon38:c.5660+2T>A;ENST00000580640:exon40:c.5735+2T>A)	.	.	0.999988247793601	0.93
18	10705333	C	A	18	10705335	y	y	splicing	PIEZO2(NM_022068:exon38:c.5660+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5660+1G>T;ENST00000582913:exon40:c.5866+1G>T;ENST00000503781:exon38:c.5660+1G>T;ENST00000580640:exon40:c.5735+1G>T)	.	.	0.999990361384395	0.938
18	10705333	C	G	18	10705335	y	y	splicing	PIEZO2(NM_022068:exon38:c.5660+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5660+1G>C;ENST00000582913:exon40:c.5866+1G>C;ENST00000503781:exon38:c.5660+1G>C;ENST00000580640:exon40:c.5735+1G>C)	.	.	0.999990361384395	0.938
18	10705333	C	T	18	10705335	y	y	splicing	PIEZO2(NM_022068:exon38:c.5660+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5660+1G>A;ENST00000582913:exon40:c.5866+1G>A;ENST00000503781:exon38:c.5660+1G>A;ENST00000580640:exon40:c.5735+1G>A)	.	.	0.999990361384395	0.938
18	10705334	T	A	18	10705336	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.A5660T:p.K1887M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.A5735T:p.K1912M;ENSG00000154864:ENST00000503781:exon37:c.A5660T:p.K1887M;ENSG00000154864:ENST00000302079:exon37:c.A5660T:p.K1887M;	0.499265375476738	0.452
18	10705334	T	C	18	10705336	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.A5660G:p.K1887R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.A5735G:p.K1912R;ENSG00000154864:ENST00000503781:exon37:c.A5660G:p.K1887R;ENSG00000154864:ENST00000302079:exon37:c.A5660G:p.K1887R;	0.0336486969529176	0.098
18	10705334	T	G	18	10705336	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.A5660C:p.K1887T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.A5735C:p.K1912T;ENSG00000154864:ENST00000503781:exon37:c.A5660C:p.K1887T;ENSG00000154864:ENST00000302079:exon37:c.A5660C:p.K1887T;	0.597217043135479	0.682
18	10705335	T	A	18	10705337	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon37:c.A5659T:p.K1887X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon39:c.A5734T:p.K1912X;ENSG00000154864:ENST00000503781:exon37:c.A5659T:p.K1887X;ENSG00000154864:ENST00000302079:exon37:c.A5659T:p.K1887X;	0.999927719668009	1.0
18	10705335	T	C	18	10705337	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.A5659G:p.K1887E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.A5734G:p.K1912E;ENSG00000154864:ENST00000503781:exon37:c.A5659G:p.K1887E;ENSG00000154864:ENST00000302079:exon37:c.A5659G:p.K1887E;	0.998620073909519	0.972
18	10705335	T	G	18	10705337	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.A5659C:p.K1887Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.A5734C:p.K1912Q;ENSG00000154864:ENST00000503781:exon37:c.A5659C:p.K1887Q;ENSG00000154864:ENST00000302079:exon37:c.A5659C:p.K1887Q;	0.999064124649738	0.978
18	10705336	T	A	18	10705338	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.A5658T:p.K1886N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.A5733T:p.K1911N;ENSG00000154864:ENST00000503781:exon37:c.A5658T:p.K1886N;ENSG00000154864:ENST00000302079:exon37:c.A5658T:p.K1886N;	0.163575011489938	0.484
18	10705336	T	C	18	10705338	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon37:c.A5658G:p.K1886K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.A5733G:p.K1911K;ENSG00000154864:ENST00000503781:exon37:c.A5658G:p.K1886K;ENSG00000154864:ENST00000302079:exon37:c.A5658G:p.K1886K;	0.00114104979115076	0.112
18	10705336	T	G	18	10705338	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.A5658C:p.K1886N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.A5733C:p.K1911N;ENSG00000154864:ENST00000503781:exon37:c.A5658C:p.K1886N;ENSG00000154864:ENST00000302079:exon37:c.A5658C:p.K1886N;	1.71709373655315E-4	0.006
18	10705743	C	A	18	10705745	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon37:c.G5251T:p.E1751X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon39:c.G5326T:p.E1776X;ENSG00000154864:ENST00000503781:exon37:c.G5251T:p.E1751X;ENSG00000154864:ENST00000302079:exon37:c.G5251T:p.E1751X;	0.981840472032102	0.886
18	10705743	C	G	18	10705745	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.G5251C:p.E1751Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.G5326C:p.E1776Q;ENSG00000154864:ENST00000503781:exon37:c.G5251C:p.E1751Q;ENSG00000154864:ENST00000302079:exon37:c.G5251C:p.E1751Q;	0.00899192137917245	0.064
18	10705743	C	T	18	10705745	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.G5251A:p.E1751K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.G5326A:p.E1776K;ENSG00000154864:ENST00000503781:exon37:c.G5251A:p.E1751K;ENSG00000154864:ENST00000302079:exon37:c.G5251A:p.E1751K;	0.494287026065498	0.504
18	10705744	G	A	18	10705746	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon37:c.C5250T:p.S1750S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.C5325T:p.S1775S;ENSG00000154864:ENST00000503781:exon37:c.C5250T:p.S1750S;ENSG00000154864:ENST00000302079:exon37:c.C5250T:p.S1750S;	2.55210876795246E-5	0.008
18	10705744	G	C	18	10705746	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.C5250G:p.S1750R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.C5325G:p.S1775R;ENSG00000154864:ENST00000503781:exon37:c.C5250G:p.S1750R;ENSG00000154864:ENST00000302079:exon37:c.C5250G:p.S1750R;	2.83507552959465E-5	0.136
18	10705744	G	T	18	10705746	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.C5250A:p.S1750R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon39:c.C5325A:p.S1775R;ENSG00000154864:ENST00000503781:exon37:c.C5250A:p.S1750R;ENSG00000154864:ENST00000302079:exon37:c.C5250A:p.S1750R;	1.09489955286239E-5	0.0
18	10705745	C	A	18	10705747	y	y	splicing	PIEZO2(NM_022068:exon38:c.5250-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5250-1G>T;ENST00000582913:exon40:c.5456-1G>T;ENST00000503781:exon38:c.5250-1G>T;ENST00000580640:exon40:c.5325-1G>T)	.	.	0.999925439713521	0.916
18	10705745	C	G	18	10705747	y	y	splicing	PIEZO2(NM_022068:exon38:c.5250-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5250-1G>C;ENST00000582913:exon40:c.5456-1G>C;ENST00000503781:exon38:c.5250-1G>C;ENST00000580640:exon40:c.5325-1G>C)	.	.	0.999955485601963	0.918
18	10705745	C	T	18	10705747	y	y	splicing	PIEZO2(NM_022068:exon38:c.5250-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5250-1G>A;ENST00000582913:exon40:c.5456-1G>A;ENST00000503781:exon38:c.5250-1G>A;ENST00000580640:exon40:c.5325-1G>A)	.	.	0.999943620371814	0.95
18	10705746	T	A	18	10705748	y	y	splicing	PIEZO2(NM_022068:exon38:c.5250-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5250-2A>T;ENST00000582913:exon40:c.5456-2A>T;ENST00000503781:exon38:c.5250-2A>T;ENST00000580640:exon40:c.5325-2A>T)	.	.	0.999982151912279	0.916
18	10705746	T	C	18	10705748	y	y	splicing	PIEZO2(NM_022068:exon38:c.5250-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5250-2A>G;ENST00000582913:exon40:c.5456-2A>G;ENST00000503781:exon38:c.5250-2A>G;ENST00000580640:exon40:c.5325-2A>G)	.	.	0.999982151912279	0.908
18	10705746	T	G	18	10705748	y	y	splicing	PIEZO2(NM_022068:exon38:c.5250-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon38:c.5250-2A>C;ENST00000582913:exon40:c.5456-2A>C;ENST00000503781:exon38:c.5250-2A>C;ENST00000580640:exon40:c.5325-2A>C)	.	.	0.999982151912279	0.91
18	10705747	G	A	18	10705749	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00733621108237275	0.13
18	10705747	G	C	18	10705749	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.999854749155105	0.898
18	10705747	G	T	18	10705749	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.982349598717752	0.806
18	10705748	T	A	18	10705750	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00135877859118461	0.02
18	10705748	T	C	18	10705750	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.903055627175257	0.692
18	10705748	T	G	18	10705750	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	2.3767203487176E-4	0.032
18	10705749	T	A	18	10705751	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.95048459408849E-5	0.0
18	10705749	T	C	18	10705751	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	2.78958691012223E-5	0.0
18	10705749	T	G	18	10705751	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.20483758077956E-5	0.0
18	10705750	G	A	18	10705752	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	2.30937197287158E-5	0.002
18	10705750	G	C	18	10705752	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	9.11221729213271E-5	0.162
18	10705750	G	T	18	10705752	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.95915039703871E-4	0.146
18	10705751	G	A	18	10705753	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	2.15374715476911E-4	0.014
18	10705751	G	C	18	10705753	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00357549970946763	0.056
18	10705751	G	T	18	10705753	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00547327432752104	0.07
18	10705752	G	A	18	10705754	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	4.57945714162684E-5	0.0
18	10705752	G	C	18	10705754	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00121170115010355	0.04
18	10705752	G	T	18	10705754	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	7.536679061984E-4	0.064
18	10705753	A	C	18	10705755	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0414820017455566	0.248
18	10705753	A	G	18	10705755	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0430762696510554	0.152
18	10705753	A	T	18	10705755	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.108731605649016	0.272
18	10705754	G	A	18	10705756	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	6.28000136744866E-5	0.004
18	10705754	G	C	18	10705756	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	6.0575352452123E-4	0.054
18	10705754	G	T	18	10705756	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	3.13496514807535E-4	0.066
18	10705755	A	C	18	10705757	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0458935329443934	0.488
18	10705755	A	G	18	10705757	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0155768018830458	0.138
18	10705755	A	T	18	10705757	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.536821550029995	0.6
18	10705756	A	C	18	10705758	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	7.58324681602389E-4	0.12
18	10705756	A	G	18	10705758	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.62070395254387E-4	0.06
18	10705756	A	T	18	10705758	y	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	5.31952554039963E-4	0.102
18	10708265	T	A	18	10708267	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	7.25990207015467E-5	0.008
18	10708265	T	C	18	10708267	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.35641197818124E-4	0.016
18	10708265	T	G	18	10708267	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.23477344552962E-4	0.008
18	10708266	T	A	18	10708268	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00220285109689569	0.096
18	10708266	T	C	18	10708268	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00220285109689569	0.116
18	10708266	T	G	18	10708268	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00220285109689569	0.038
18	10708267	A	C	18	10708269	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.30870955723717E-4	0.0
18	10708267	A	G	18	10708269	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.30870955723717E-4	0.0
18	10708267	A	T	18	10708269	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	1.30870955723717E-4	0.0
18	10708268	A	C	18	10708270	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.385620847847778	0.55
18	10708268	A	G	18	10708270	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.385620847847778	0.51
18	10708268	A	T	18	10708270	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.590297041667878	0.656
18	10708269	G	A	18	10708271	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.923645538223766	0.662
18	10708269	G	C	18	10708271	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.793118250434253	0.676
18	10708269	G	T	18	10708271	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.923645538223766	0.658
18	10708270	C	A	18	10708272	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.972710711965371	0.812
18	10708270	C	G	18	10708272	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.960668988587981	0.724
18	10708270	C	T	18	10708272	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.986152223221829	0.86
18	10708271	A	C	18	10708273	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5455+2T>G)	.	.	0.910900176831149	0.858
18	10708271	A	G	18	10708273	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5455+2T>C)	.	.	0.910900176831149	0.858
18	10708271	A	T	18	10708273	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5455+2T>A)	.	.	0.910900176831149	0.854
18	10708272	C	A	18	10708274	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5455+1G>T)	.	.	0.993824108016147	0.924
18	10708272	C	G	18	10708274	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5455+1G>C)	.	.	0.993824108016147	0.93
18	10708272	C	T	18	10708274	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5455+1G>A)	.	.	0.993824108016147	0.922
18	10708273	C	A	18	10708275	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.972710711965371	0.81
18	10708273	C	G	18	10708275	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.923645538223766	0.7
18	10708273	C	T	18	10708275	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.976656978115406	0.858
18	10708274	T	A	18	10708276	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.648204302414743	0.718
18	10708274	T	C	18	10708276	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.387243460974309	0.546
18	10708274	T	G	18	10708276	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.479776482543394	0.636
18	10708275	T	A	18	10708277	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	6.14656354099398E-5	0.0
18	10708275	T	C	18	10708277	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	6.79529326766482E-5	0.0
18	10708275	T	G	18	10708277	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	6.79529326766482E-5	0.0
18	10708436	A	C	18	10708438	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.268466686057196	0.554
18	10708436	A	G	18	10708438	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.268466686057196	0.56
18	10708436	A	T	18	10708438	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.385620847847778	0.514
18	10708437	G	A	18	10708439	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.793118250434253	0.598
18	10708437	G	C	18	10708439	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.793118250434253	0.42
18	10708437	G	T	18	10708439	n	y	intronic	PIEZO2	.	.	ncRNA_UTR3	ENSG00000154864	.	.	0.793118250434253	0.554
18	10708438	C	A	18	10708440	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5291-1G>T)	.	.	0.993824108016147	0.93
18	10708438	C	G	18	10708440	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5291-1G>C)	.	.	0.993824108016147	0.928
18	10708438	C	T	18	10708440	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5291-1G>A)	.	.	0.993824108016147	0.93
18	10708439	T	A	18	10708441	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5291-2A>T)	.	.	0.910900176831149	0.856
18	10708439	T	C	18	10708441	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5291-2A>G)	.	.	0.919425590091538	0.856
18	10708439	T	G	18	10708441	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon39:c.5291-2A>C)	.	.	0.898286168217306	0.854
18	10708440	A	C	18	10708442	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.374997054884157	0.528
18	10708440	A	G	18	10708442	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.251146610827616	0.534
18	10708440	A	T	18	10708442	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.385620847847778	0.55
18	10708441	G	A	18	10708443	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.793118250434253	0.562
18	10708441	G	C	18	10708443	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.610175718888826	0.33
18	10708441	G	T	18	10708443	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.793118250434253	0.516
18	10708442	C	A	18	10708444	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0861748975146968	0.138
18	10708442	C	G	18	10708444	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.0861748975146968	0.092
18	10708442	C	T	18	10708444	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.101747750884609	0.212
18	10708443	A	C	18	10708445	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.251146610827616	0.534
18	10708443	A	G	18	10708445	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.251146610827616	0.536
18	10708443	A	T	18	10708445	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.385620847847778	0.548
18	10708444	G	A	18	10708446	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.960668988587981	0.724
18	10708444	G	C	18	10708446	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.923645538223766	0.664
18	10708444	G	T	18	10708446	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.923645538223766	0.7
18	10708445	C	A	18	10708447	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00445273769687348	0.048
18	10708445	C	G	18	10708447	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00327451117831367	0.04
18	10708445	C	T	18	10708447	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.00445273769687348	0.066
18	10708446	G	A	18	10708448	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.995030058536757	0.906
18	10708446	G	C	18	10708448	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.995030058536757	0.886
18	10708446	G	T	18	10708448	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.995030058536757	0.888
18	10708447	C	A	18	10708449	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.993824108016147	0.93
18	10708447	C	G	18	10708449	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.992857727243738	0.926
18	10708447	C	T	18	10708449	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.993824108016147	0.93
18	10708448	A	C	18	10708450	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.910900176831149	0.854
18	10708448	A	G	18	10708450	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.910900176831149	0.854
18	10708448	A	T	18	10708450	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.910900176831149	0.85
18	10708449	A	C	18	10708451	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.910900176831149	0.852
18	10708449	A	G	18	10708451	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.910900176831149	0.854
18	10708449	A	T	18	10708451	n	y	intronic	PIEZO2	.	.	ncRNA_intronic	ENSG00000264843	.	.	0.910900176831149	0.85
18	10714754	T	A	18	10714756	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.83828854935608E-5	0.004
18	10714754	T	C	18	10714756	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.19950255002827E-4	0.034
18	10714754	T	G	18	10714756	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.92336682237296E-5	0.002
18	10714755	G	A	18	10714757	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0039691215093008	0.058
18	10714755	G	C	18	10714757	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00275812172857671	0.042
18	10714755	G	T	18	10714757	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00436252035590469	0.038
18	10714756	A	C	18	10714758	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.88285565665858E-4	0.192
18	10714756	A	G	18	10714758	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00273506005121075	0.194
18	10714756	A	T	18	10714758	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.72134246266089E-4	0.128
18	10714757	A	C	18	10714759	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.33450792673155E-4	0.034
18	10714757	A	G	18	10714759	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.1856269224767E-4	0.002
18	10714757	A	T	18	10714759	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.67623854851838E-4	0.016
18	10714758	A	C	18	10714760	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.9797020478592E-5	0.016
18	10714758	A	G	18	10714760	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.24817684454231E-4	0.014
18	10714758	A	T	18	10714760	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.0548365550003E-5	0.056
18	10714759	T	A	18	10714761	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99972969809079	0.96
18	10714759	T	C	18	10714761	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999684249911338	0.938
18	10714759	T	G	18	10714761	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999894542644287	0.948
18	10714760	A	C	18	10714762	y	y	splicing	PIEZO2(NM_022068:exon37:c.5249+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5249+2T>G;ENST00000582913:exon38:c.5290+2T>G;ENST00000503781:exon37:c.5249+2T>G;ENST00000580640:exon39:c.5324+2T>G)	.	.	0.999988247793601	0.952
18	10714760	A	G	18	10714762	y	y	splicing	PIEZO2(NM_022068:exon37:c.5249+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5249+2T>C;ENST00000582913:exon38:c.5290+2T>C;ENST00000503781:exon37:c.5249+2T>C;ENST00000580640:exon39:c.5324+2T>C)	.	.	0.997082385503644	0.728
18	10714760	A	T	18	10714762	y	y	splicing	PIEZO2(NM_022068:exon37:c.5249+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5249+2T>A;ENST00000582913:exon38:c.5290+2T>A;ENST00000503781:exon37:c.5249+2T>A;ENST00000580640:exon39:c.5324+2T>A)	.	.	0.999988247793601	0.952
18	10714761	C	A	18	10714763	y	y	splicing	PIEZO2(NM_022068:exon37:c.5249+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5249+1G>T;ENST00000582913:exon38:c.5290+1G>T;ENST00000503781:exon37:c.5249+1G>T;ENST00000580640:exon39:c.5324+1G>T)	.	.	0.999989072007339	0.95
18	10714761	C	G	18	10714763	y	y	splicing	PIEZO2(NM_022068:exon37:c.5249+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5249+1G>C;ENST00000582913:exon38:c.5290+1G>C;ENST00000503781:exon37:c.5249+1G>C;ENST00000580640:exon39:c.5324+1G>C)	.	.	0.999989072007339	0.95
18	10714761	C	T	18	10714763	y	y	splicing	PIEZO2(NM_022068:exon37:c.5249+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5249+1G>A;ENST00000582913:exon38:c.5290+1G>A;ENST00000503781:exon37:c.5249+1G>A;ENST00000580640:exon39:c.5324+1G>A)	.	.	0.999989072007339	0.95
18	10714762	C	A	18	10714764	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5249T:p.S1750I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5324T:p.S1775I;ENSG00000154864:ENST00000503781:exon36:c.G5249T:p.S1750I;ENSG00000154864:ENST00000302079:exon36:c.G5249T:p.S1750I;	0.999974090396779	1.0
18	10714762	C	G	18	10714764	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5249C:p.S1750T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5324C:p.S1775T;ENSG00000154864:ENST00000503781:exon36:c.G5249C:p.S1750T;ENSG00000154864:ENST00000302079:exon36:c.G5249C:p.S1750T;	0.999993274451101	1.0
18	10714762	C	T	18	10714764	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5249A:p.S1750N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5324A:p.S1775N;ENSG00000154864:ENST00000503781:exon36:c.G5249A:p.S1750N;ENSG00000154864:ENST00000302079:exon36:c.G5249A:p.S1750N;	0.999992703009045	1.0
18	10714763	T	A	18	10714765	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.A5248T:p.S1750C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.A5323T:p.S1775C;ENSG00000154864:ENST00000503781:exon36:c.A5248T:p.S1750C;ENSG00000154864:ENST00000302079:exon36:c.A5248T:p.S1750C;	0.999674114682387	0.986
18	10714763	T	C	18	10714765	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.A5248G:p.S1750G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.A5323G:p.S1775G;ENSG00000154864:ENST00000503781:exon36:c.A5248G:p.S1750G;ENSG00000154864:ENST00000302079:exon36:c.A5248G:p.S1750G;	0.999618193206373	0.992
18	10714763	T	G	18	10714765	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.A5248C:p.S1750R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.A5323C:p.S1775R;ENSG00000154864:ENST00000503781:exon36:c.A5248C:p.S1750R;ENSG00000154864:ENST00000302079:exon36:c.A5248C:p.S1750R;	0.999762569086233	0.986
18	10714764	G	A	18	10714766	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon36:c.C5247T:p.S1749S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.C5322T:p.S1774S;ENSG00000154864:ENST00000503781:exon36:c.C5247T:p.S1749S;ENSG00000154864:ENST00000302079:exon36:c.C5247T:p.S1749S;	0.975525369100501	0.848
18	10714764	G	C	18	10714766	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon36:c.C5247G:p.S1749S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.C5322G:p.S1774S;ENSG00000154864:ENST00000503781:exon36:c.C5247G:p.S1749S;ENSG00000154864:ENST00000302079:exon36:c.C5247G:p.S1749S;	0.0122394851227186	0.23
18	10714764	G	T	18	10714766	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon36:c.C5247A:p.S1749S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.C5322A:p.S1774S;ENSG00000154864:ENST00000503781:exon36:c.C5247A:p.S1749S;ENSG00000154864:ENST00000302079:exon36:c.C5247A:p.S1749S;	0.0178269511376104	0.218
18	10714927	C	A	18	10714929	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5084T:p.G1695V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5159T:p.G1720V;ENSG00000154864:ENST00000503781:exon36:c.G5084T:p.G1695V;ENSG00000154864:ENST00000302079:exon36:c.G5084T:p.G1695V;	2.01469521581213E-4	0.012
18	10714927	C	G	18	10714929	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5084C:p.G1695A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5159C:p.G1720A;ENSG00000154864:ENST00000503781:exon36:c.G5084C:p.G1695A;ENSG00000154864:ENST00000302079:exon36:c.G5084C:p.G1695A;	6.14717347107951E-4	0.06
18	10714927	C	T	18	10714929	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5084A:p.G1695D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5159A:p.G1720D;ENSG00000154864:ENST00000503781:exon36:c.G5084A:p.G1695D;ENSG00000154864:ENST00000302079:exon36:c.G5084A:p.G1695D;	4.54885501293366E-4	0.052
18	10714928	C	A	18	10714930	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5083T:p.G1695C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5158T:p.G1720C;ENSG00000154864:ENST00000503781:exon36:c.G5083T:p.G1695C;ENSG00000154864:ENST00000302079:exon36:c.G5083T:p.G1695C;	0.994209903011077	0.588
18	10714928	C	G	18	10714930	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5083C:p.G1695R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5158C:p.G1720R;ENSG00000154864:ENST00000503781:exon36:c.G5083C:p.G1695R;ENSG00000154864:ENST00000302079:exon36:c.G5083C:p.G1695R;	0.969854917281047	0.698
18	10714928	C	T	18	10714930	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon36:c.G5083A:p.G1695S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon38:c.G5158A:p.G1720S;ENSG00000154864:ENST00000503781:exon36:c.G5083A:p.G1695S;ENSG00000154864:ENST00000302079:exon36:c.G5083A:p.G1695S;	0.909124061897242	0.596
18	10714929	C	A	18	10714931	y	y	splicing	PIEZO2(NM_022068:exon37:c.5083-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5083-1G>T;ENST00000582913:exon38:c.5124-1G>T;ENST00000503781:exon37:c.5083-1G>T;ENST00000580640:exon39:c.5158-1G>T)	.	.	0.99995545544995	0.948
18	10714929	C	G	18	10714931	y	y	splicing	PIEZO2(NM_022068:exon37:c.5083-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5083-1G>C;ENST00000582913:exon38:c.5124-1G>C;ENST00000503781:exon37:c.5083-1G>C;ENST00000580640:exon39:c.5158-1G>C)	.	.	0.99995545544995	0.948
18	10714929	C	T	18	10714931	y	y	splicing	PIEZO2(NM_022068:exon37:c.5083-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5083-1G>A;ENST00000582913:exon38:c.5124-1G>A;ENST00000503781:exon37:c.5083-1G>A;ENST00000580640:exon39:c.5158-1G>A)	.	.	0.99995545544995	0.944
18	10714930	T	A	18	10714932	y	y	splicing	PIEZO2(NM_022068:exon37:c.5083-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5083-2A>T;ENST00000582913:exon38:c.5124-2A>T;ENST00000503781:exon37:c.5083-2A>T;ENST00000580640:exon39:c.5158-2A>T)	.	.	0.999946188727699	0.942
18	10714930	T	C	18	10714932	y	y	splicing	PIEZO2(NM_022068:exon37:c.5083-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5083-2A>G;ENST00000582913:exon38:c.5124-2A>G;ENST00000503781:exon37:c.5083-2A>G;ENST00000580640:exon39:c.5158-2A>G)	.	.	0.999946188727699	0.946
18	10714930	T	G	18	10714932	y	y	splicing	PIEZO2(NM_022068:exon37:c.5083-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon37:c.5083-2A>C;ENST00000582913:exon38:c.5124-2A>C;ENST00000503781:exon37:c.5083-2A>C;ENST00000580640:exon39:c.5158-2A>C)	.	.	0.999946188727699	0.946
18	10714931	G	A	18	10714933	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.98951923994624E-4	0.052
18	10714931	G	C	18	10714933	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998999919671219	0.89
18	10714931	G	T	18	10714933	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.516191401004341	0.548
18	10714932	A	C	18	10714934	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.13097588586358E-6	0.004
18	10714932	A	G	18	10714934	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.60535824228912E-6	0.006
18	10714932	A	T	18	10714934	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.50267962428568E-5	0.002
18	10714933	G	A	18	10714935	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.98868283655284E-5	0.0
18	10714933	G	C	18	10714935	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00127403592717968	0.154
18	10714933	G	T	18	10714935	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.68596166659099E-4	0.116
18	10714934	G	A	18	10714936	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00306133234163806	0.12
18	10714934	G	C	18	10714936	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.37939766241096	0.392
18	10714934	G	T	18	10714936	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.377396193779851	0.388
18	10714935	A	C	18	10714937	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00985319211456574	0.088
18	10714935	A	G	18	10714937	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.41309850831309E-5	0.0
18	10714935	A	T	18	10714937	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00818854028853576	0.084
18	10714936	G	A	18	10714938	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.24904377074773E-5	0.004
18	10714936	G	C	18	10714938	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.56128470152872E-4	0.046
18	10714936	G	T	18	10714938	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.01210047671871E-4	0.042
18	10714937	A	C	18	10714939	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00131492584794912	0.078
18	10714937	A	G	18	10714939	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.22767098037927E-4	0.002
18	10714937	A	T	18	10714939	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00110990207349461	0.078
18	10714938	A	C	18	10714940	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995557064225709	0.892
18	10714938	A	G	18	10714940	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.36042267532241E-5	0.0
18	10714938	A	T	18	10714940	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.75712178464151E-4	0.036
18	10714939	T	A	18	10714941	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.24523434375789E-5	0.022
18	10714939	T	C	18	10714941	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.28766177360685E-5	0.01
18	10714939	T	G	18	10714941	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.82986430271621E-6	0.006
18	10714940	G	A	18	10714942	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.69383724885122E-4	0.038
18	10714940	G	C	18	10714942	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00122392696078451	0.152
18	10714940	G	T	18	10714942	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00392513187961064	0.11
18	10715640	A	C	18	10715642	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.80202021678379E-4	0.002
18	10715640	A	G	18	10715642	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.9429498953469E-4	0.036
18	10715640	A	T	18	10715642	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.81225030661328E-4	0.004
18	10715641	G	A	18	10715643	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.51821959633161E-4	0.048
18	10715641	G	C	18	10715643	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.50452379630829E-4	0.016
18	10715641	G	T	18	10715643	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.79107838598547E-5	0.0
18	10715642	T	A	18	10715644	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.0976336934285E-5	0.024
18	10715642	T	C	18	10715644	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.68273389969354E-5	0.0
18	10715642	T	G	18	10715644	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.18691179124606E-4	0.01
18	10715643	G	A	18	10715645	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.9661820367388E-4	0.014
18	10715643	G	C	18	10715645	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.45946964762049E-5	0.004
18	10715643	G	T	18	10715645	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.63722326535543E-4	0.004
18	10715644	T	A	18	10715646	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.281392956397621	0.352
18	10715644	T	C	18	10715646	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.321572178605963	0.402
18	10715644	T	G	18	10715646	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0558017587728777	0.286
18	10715645	T	A	18	10715647	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999911454418197	0.986
18	10715645	T	C	18	10715647	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999652457012661	0.992
18	10715645	T	G	18	10715647	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999940732508224	0.99
18	10715646	A	C	18	10715648	y	y	splicing	PIEZO2(NM_022068:exon36:c.5082+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.5082+2T>G;ENST00000582913:exon37:c.5123+2T>G;ENST00000503781:exon36:c.5082+2T>G;ENST00000580640:exon38:c.5157+2T>G)	.	.	0.999988247793601	0.936
18	10715646	A	G	18	10715648	y	y	splicing	PIEZO2(NM_022068:exon36:c.5082+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.5082+2T>C;ENST00000582913:exon37:c.5123+2T>C;ENST00000503781:exon36:c.5082+2T>C;ENST00000580640:exon38:c.5157+2T>C)	.	.	0.996388929962285	0.708
18	10715646	A	T	18	10715648	y	y	splicing	PIEZO2(NM_022068:exon36:c.5082+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.5082+2T>A;ENST00000582913:exon37:c.5123+2T>A;ENST00000503781:exon36:c.5082+2T>A;ENST00000580640:exon38:c.5157+2T>A)	.	.	0.999988247793601	0.936
18	10715647	C	A	18	10715649	y	y	splicing	PIEZO2(NM_022068:exon36:c.5082+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.5082+1G>T;ENST00000582913:exon37:c.5123+1G>T;ENST00000503781:exon36:c.5082+1G>T;ENST00000580640:exon38:c.5157+1G>T)	.	.	0.999990361384395	0.944
18	10715647	C	G	18	10715649	y	y	splicing	PIEZO2(NM_022068:exon36:c.5082+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.5082+1G>C;ENST00000582913:exon37:c.5123+1G>C;ENST00000503781:exon36:c.5082+1G>C;ENST00000580640:exon38:c.5157+1G>C)	.	.	0.999990361384395	0.944
18	10715647	C	T	18	10715649	y	y	splicing	PIEZO2(NM_022068:exon36:c.5082+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.5082+1G>A;ENST00000582913:exon37:c.5123+1G>A;ENST00000503781:exon36:c.5082+1G>A;ENST00000580640:exon38:c.5157+1G>A)	.	.	0.999990361384395	0.944
18	10715648	C	A	18	10715650	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.G5082T:p.K1694N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.G5157T:p.K1719N;ENSG00000154864:ENST00000503781:exon35:c.G5082T:p.K1694N;ENSG00000154864:ENST00000302079:exon35:c.G5082T:p.K1694N;	0.999929172074422	0.998
18	10715648	C	G	18	10715650	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.G5082C:p.K1694N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.G5157C:p.K1719N;ENSG00000154864:ENST00000503781:exon35:c.G5082C:p.K1694N;ENSG00000154864:ENST00000302079:exon35:c.G5082C:p.K1694N;	0.999974280826021	1.0
18	10715648	C	T	18	10715650	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon35:c.G5082A:p.K1694K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.G5157A:p.K1719K;ENSG00000154864:ENST00000503781:exon35:c.G5082A:p.K1694K;ENSG00000154864:ENST00000302079:exon35:c.G5082A:p.K1694K;	0.999979952104076	1.0
18	10715649	T	A	18	10715651	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.A5081T:p.K1694M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.A5156T:p.K1719M;ENSG00000154864:ENST00000503781:exon35:c.A5081T:p.K1694M;ENSG00000154864:ENST00000302079:exon35:c.A5081T:p.K1694M;	0.998042872120603	0.976
18	10715649	T	C	18	10715651	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.A5081G:p.K1694R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.A5156G:p.K1719R;ENSG00000154864:ENST00000503781:exon35:c.A5081G:p.K1694R;ENSG00000154864:ENST00000302079:exon35:c.A5081G:p.K1694R;	0.999501223705929	0.932
18	10715649	T	G	18	10715651	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.A5081C:p.K1694T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.A5156C:p.K1719T;ENSG00000154864:ENST00000503781:exon35:c.A5081C:p.K1694T;ENSG00000154864:ENST00000302079:exon35:c.A5081C:p.K1694T;	0.998474417023747	0.98
18	10715650	T	A	18	10715652	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon35:c.A5080T:p.K1694X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon37:c.A5155T:p.K1719X;ENSG00000154864:ENST00000503781:exon35:c.A5080T:p.K1694X;ENSG00000154864:ENST00000302079:exon35:c.A5080T:p.K1694X;	0.998682626710506	0.858
18	10715650	T	C	18	10715652	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.A5080G:p.K1694E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.A5155G:p.K1719E;ENSG00000154864:ENST00000503781:exon35:c.A5080G:p.K1694E;ENSG00000154864:ENST00000302079:exon35:c.A5080G:p.K1694E;	0.703298313744682	0.51
18	10715650	T	G	18	10715652	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.A5080C:p.K1694Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.A5155C:p.K1719Q;ENSG00000154864:ENST00000503781:exon35:c.A5080C:p.K1694Q;ENSG00000154864:ENST00000302079:exon35:c.A5080C:p.K1694Q;	0.482156743399779	0.576
18	10715813	A	C	18	10715815	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.T4917G:p.D1639E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.T4992G:p.D1664E;ENSG00000154864:ENST00000503781:exon35:c.T4917G:p.D1639E;ENSG00000154864:ENST00000302079:exon35:c.T4917G:p.D1639E;	1.67642932541657E-4	0.066
18	10715813	A	G	18	10715815	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon35:c.T4917C:p.D1639D;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.T4992C:p.D1664D;ENSG00000154864:ENST00000503781:exon35:c.T4917C:p.D1639D;ENSG00000154864:ENST00000302079:exon35:c.T4917C:p.D1639D;	5.64907305179708E-5	0.002
18	10715813	A	T	18	10715815	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.T4917A:p.D1639E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.T4992A:p.D1664E;ENSG00000154864:ENST00000503781:exon35:c.T4917A:p.D1639E;ENSG00000154864:ENST00000302079:exon35:c.T4917A:p.D1639E;	8.29666454389661E-5	0.072
18	10715814	T	A	18	10715816	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.A4916T:p.D1639V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.A4991T:p.D1664V;ENSG00000154864:ENST00000503781:exon35:c.A4916T:p.D1639V;ENSG00000154864:ENST00000302079:exon35:c.A4916T:p.D1639V;	0.0517329195213119	0.26
18	10715814	T	C	18	10715816	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.A4916G:p.D1639G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.A4991G:p.D1664G;ENSG00000154864:ENST00000503781:exon35:c.A4916G:p.D1639G;ENSG00000154864:ENST00000302079:exon35:c.A4916G:p.D1639G;	0.0031434373051132	0.058
18	10715814	T	G	18	10715816	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon35:c.A4916C:p.D1639A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon37:c.A4991C:p.D1664A;ENSG00000154864:ENST00000503781:exon35:c.A4916C:p.D1639A;ENSG00000154864:ENST00000302079:exon35:c.A4916C:p.D1639A;	0.0921208037660268	0.404
18	10715815	C	A	18	10715817	y	y	splicing	PIEZO2(NM_022068:exon36:c.4916-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.4916-1G>T;ENST00000582913:exon37:c.4957-1G>T;ENST00000503781:exon36:c.4916-1G>T;ENST00000580640:exon38:c.4991-1G>T)	.	.	0.999990361384395	0.938
18	10715815	C	G	18	10715817	y	y	splicing	PIEZO2(NM_022068:exon36:c.4916-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.4916-1G>C;ENST00000582913:exon37:c.4957-1G>C;ENST00000503781:exon36:c.4916-1G>C;ENST00000580640:exon38:c.4991-1G>C)	.	.	0.999990361384395	0.938
18	10715815	C	T	18	10715817	y	y	splicing	PIEZO2(NM_022068:exon36:c.4916-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.4916-1G>A;ENST00000582913:exon37:c.4957-1G>A;ENST00000503781:exon36:c.4916-1G>A;ENST00000580640:exon38:c.4991-1G>A)	.	.	0.999990361384395	0.938
18	10715816	T	A	18	10715818	y	y	splicing	PIEZO2(NM_022068:exon36:c.4916-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.4916-2A>T;ENST00000582913:exon37:c.4957-2A>T;ENST00000503781:exon36:c.4916-2A>T;ENST00000580640:exon38:c.4991-2A>T)	.	.	0.999988247793601	0.93
18	10715816	T	C	18	10715818	y	y	splicing	PIEZO2(NM_022068:exon36:c.4916-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.4916-2A>G;ENST00000582913:exon37:c.4957-2A>G;ENST00000503781:exon36:c.4916-2A>G;ENST00000580640:exon38:c.4991-2A>G)	.	.	0.999988247793601	0.93
18	10715816	T	G	18	10715818	y	y	splicing	PIEZO2(NM_022068:exon36:c.4916-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon36:c.4916-2A>C;ENST00000582913:exon37:c.4957-2A>C;ENST00000503781:exon36:c.4916-2A>C;ENST00000580640:exon38:c.4991-2A>C)	.	.	0.999988247793601	0.93
18	10715817	A	C	18	10715819	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997155888145957	0.746
18	10715817	A	G	18	10715819	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.0513747104139E-4	0.01
18	10715817	A	T	18	10715819	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.12812791370369	0.304
18	10715818	G	A	18	10715820	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00134017782977319	0.036
18	10715818	G	C	18	10715820	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00106292063608625	0.026
18	10715818	G	T	18	10715820	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00102783672391286	0.03
18	10715819	G	A	18	10715821	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.98829104946445E-4	0.014
18	10715819	G	C	18	10715821	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00126536439341855	0.108
18	10715819	G	T	18	10715821	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00424935857586357	0.13
18	10715820	A	C	18	10715822	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0038574734410503	0.166
18	10715820	A	G	18	10715822	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.93763604621085E-4	0.034
18	10715820	A	T	18	10715822	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00146326712388511	0.128
18	10715821	G	A	18	10715823	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.60745993545955E-5	0.0
18	10715821	G	C	18	10715823	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.00837716146575E-4	0.03
18	10715821	G	T	18	10715823	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.84129419366217E-4	0.03
18	10715822	G	A	18	10715824	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.77529902422137E-5	0.002
18	10715822	G	C	18	10715824	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.33831398976596E-5	0.018
18	10715822	G	T	18	10715824	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.64786021740676E-4	0.008
18	10715823	A	C	18	10715825	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0377347203242951	0.358
18	10715823	A	G	18	10715825	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0039339770800202	0.102
18	10715823	A	T	18	10715825	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0152648590782229	0.4
18	10715824	A	C	18	10715826	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.6191664844109E-5	0.098
18	10715824	A	G	18	10715826	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.70739376158352E-5	0.0
18	10715824	A	T	18	10715826	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.72941316540569E-4	0.052
18	10715825	G	A	18	10715827	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.96170349677938E-5	0.016
18	10715825	G	C	18	10715827	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.78260754544731E-4	0.038
18	10715825	G	T	18	10715827	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00149038104624687	0.076
18	10715826	A	C	18	10715828	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.315196079853E-4	0.098
18	10715826	A	G	18	10715828	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.44788448055994E-5	0.012
18	10715826	A	T	18	10715828	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.72288375113834E-4	0.15
18	10718190	T	A	18	10718192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.79340236821622E-4	0.01
18	10718190	T	C	18	10718192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.23115406943857E-4	0.0
18	10718190	T	G	18	10718192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.36998015164446E-4	0.004
18	10718191	T	A	18	10718193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.12609979921803E-5	0.0
18	10718191	T	C	18	10718193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.66713233202598E-5	0.0
18	10718191	T	G	18	10718193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.62998006072595E-4	0.008
18	10718192	T	A	18	10718194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.26129294639765E-5	0.0
18	10718192	T	C	18	10718194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.33324916225458E-5	0.002
18	10718192	T	G	18	10718194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.72083314724382E-4	0.038
18	10718193	G	A	18	10718195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.7809767466489E-4	0.028
18	10718193	G	C	18	10718195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.30174186793627E-4	0.122
18	10718193	G	T	18	10718195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.1453088775419E-4	0.076
18	10718194	T	A	18	10718196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99006558199211	0.756
18	10718194	T	C	18	10718196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.990177167115642	0.84
18	10718194	T	G	18	10718196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.987007417214505	0.756
18	10718195	T	A	18	10718197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99995361234628	0.9
18	10718195	T	C	18	10718197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999502682283563	0.954
18	10718195	T	G	18	10718197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999929762204933	0.88
18	10718196	A	C	18	10718198	y	y	splicing	PIEZO2(NM_022068:exon35:c.4915+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4915+2T>G;ENST00000582913:exon36:c.4956+2T>G;ENST00000503781:exon35:c.4915+2T>G;ENST00000580640:exon37:c.4990+2T>G)	.	.	0.999988247793601	0.928
18	10718196	A	G	18	10718198	y	y	splicing	PIEZO2(NM_022068:exon35:c.4915+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4915+2T>C;ENST00000582913:exon36:c.4956+2T>C;ENST00000503781:exon35:c.4915+2T>C;ENST00000580640:exon37:c.4990+2T>C)	.	.	0.99340600729494	0.674
18	10718196	A	T	18	10718198	y	y	splicing	PIEZO2(NM_022068:exon35:c.4915+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4915+2T>A;ENST00000582913:exon36:c.4956+2T>A;ENST00000503781:exon35:c.4915+2T>A;ENST00000580640:exon37:c.4990+2T>A)	.	.	0.999988247793601	0.928
18	10718197	C	A	18	10718199	y	y	splicing	PIEZO2(NM_022068:exon35:c.4915+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4915+1G>T;ENST00000582913:exon36:c.4956+1G>T;ENST00000503781:exon35:c.4915+1G>T;ENST00000580640:exon37:c.4990+1G>T)	.	.	0.999985532734767	0.938
18	10718197	C	G	18	10718199	y	y	splicing	PIEZO2(NM_022068:exon35:c.4915+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4915+1G>C;ENST00000582913:exon36:c.4956+1G>C;ENST00000503781:exon35:c.4915+1G>C;ENST00000580640:exon37:c.4990+1G>C)	.	.	0.999985532734767	0.938
18	10718197	C	T	18	10718199	y	y	splicing	PIEZO2(NM_022068:exon35:c.4915+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4915+1G>A;ENST00000582913:exon36:c.4956+1G>A;ENST00000503781:exon35:c.4915+1G>A;ENST00000580640:exon37:c.4990+1G>A)	.	.	0.999985532734767	0.938
18	10718198	C	A	18	10718200	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.G4915T:p.D1639Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.G4990T:p.D1664Y;ENSG00000154864:ENST00000503781:exon34:c.G4915T:p.D1639Y;ENSG00000154864:ENST00000302079:exon34:c.G4915T:p.D1639Y;	0.99991277370092	0.99
18	10718198	C	G	18	10718200	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.G4915C:p.D1639H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.G4990C:p.D1664H;ENSG00000154864:ENST00000503781:exon34:c.G4915C:p.D1639H;ENSG00000154864:ENST00000302079:exon34:c.G4915C:p.D1639H;	0.999939114273381	0.996
18	10718198	C	T	18	10718200	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.G4915A:p.D1639N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.G4990A:p.D1664N;ENSG00000154864:ENST00000503781:exon34:c.G4915A:p.D1639N;ENSG00000154864:ENST00000302079:exon34:c.G4915A:p.D1639N;	0.999989849302457	0.998
18	10718199	T	A	18	10718201	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon34:c.A4914T:p.P1638P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.A4989T:p.P1663P;ENSG00000154864:ENST00000503781:exon34:c.A4914T:p.P1638P;ENSG00000154864:ENST00000302079:exon34:c.A4914T:p.P1638P;	0.999622638234353	1.0
18	10718199	T	C	18	10718201	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon34:c.A4914G:p.P1638P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.A4989G:p.P1663P;ENSG00000154864:ENST00000503781:exon34:c.A4914G:p.P1638P;ENSG00000154864:ENST00000302079:exon34:c.A4914G:p.P1638P;	0.999465172535391	0.998
18	10718199	T	G	18	10718201	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon34:c.A4914C:p.P1638P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.A4989C:p.P1663P;ENSG00000154864:ENST00000503781:exon34:c.A4914C:p.P1638P;ENSG00000154864:ENST00000302079:exon34:c.A4914C:p.P1638P;	0.999411619016526	0.998
18	10718200	G	A	18	10718202	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.C4913T:p.P1638L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.C4988T:p.P1663L;ENSG00000154864:ENST00000503781:exon34:c.C4913T:p.P1638L;ENSG00000154864:ENST00000302079:exon34:c.C4913T:p.P1638L;	0.998344823994424	0.916
18	10718200	G	C	18	10718202	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.C4913G:p.P1638R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.C4988G:p.P1663R;ENSG00000154864:ENST00000503781:exon34:c.C4913G:p.P1638R;ENSG00000154864:ENST00000302079:exon34:c.C4913G:p.P1638R;	0.248723103051891	0.352
18	10718200	G	T	18	10718202	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.C4913A:p.P1638Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.C4988A:p.P1663Q;ENSG00000154864:ENST00000503781:exon34:c.C4913A:p.P1638Q;ENSG00000154864:ENST00000302079:exon34:c.C4913A:p.P1638Q;	0.605547120005973	0.636
18	10718256	A	C	18	10718258	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon34:c.T4857G:p.G1619G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.T4932G:p.G1644G;ENSG00000154864:ENST00000503781:exon34:c.T4857G:p.G1619G;ENSG00000154864:ENST00000302079:exon34:c.T4857G:p.G1619G;	0.00256998606012981	0.098
18	10718256	A	G	18	10718258	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon34:c.T4857C:p.G1619G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.T4932C:p.G1644G;ENSG00000154864:ENST00000503781:exon34:c.T4857C:p.G1619G;ENSG00000154864:ENST00000302079:exon34:c.T4857C:p.G1619G;	3.27237016187805E-4	0.076
18	10718256	A	T	18	10718258	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon34:c.T4857A:p.G1619G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.T4932A:p.G1644G;ENSG00000154864:ENST00000503781:exon34:c.T4857A:p.G1619G;ENSG00000154864:ENST00000302079:exon34:c.T4857A:p.G1619G;	7.25979426718861E-4	0.104
18	10718257	C	A	18	10718259	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.G4856T:p.G1619V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.G4931T:p.G1644V;ENSG00000154864:ENST00000503781:exon34:c.G4856T:p.G1619V;ENSG00000154864:ENST00000302079:exon34:c.G4856T:p.G1619V;	0.999041705262753	0.7
18	10718257	C	G	18	10718259	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.G4856C:p.G1619A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.G4931C:p.G1644A;ENSG00000154864:ENST00000503781:exon34:c.G4856C:p.G1619A;ENSG00000154864:ENST00000302079:exon34:c.G4856C:p.G1619A;	0.994933156439679	0.722
18	10718257	C	T	18	10718259	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon34:c.G4856A:p.G1619D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon36:c.G4931A:p.G1644D;ENSG00000154864:ENST00000503781:exon34:c.G4856A:p.G1619D;ENSG00000154864:ENST00000302079:exon34:c.G4856A:p.G1619D;	0.223991418735031	0.51
18	10718258	C	A	18	10718260	y	y	splicing	PIEZO2(NM_022068:exon35:c.4856-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4856-1G>T;ENST00000582913:exon36:c.4897-1G>T;ENST00000503781:exon35:c.4856-1G>T;ENST00000580640:exon37:c.4931-1G>T)	.	.	0.999957301119924	0.886
18	10718258	C	G	18	10718260	y	y	splicing	PIEZO2(NM_022068:exon35:c.4856-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4856-1G>C;ENST00000582913:exon36:c.4897-1G>C;ENST00000503781:exon35:c.4856-1G>C;ENST00000580640:exon37:c.4931-1G>C)	.	.	0.999957301119924	0.882
18	10718258	C	T	18	10718260	y	y	splicing	PIEZO2(NM_022068:exon35:c.4856-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4856-1G>A;ENST00000582913:exon36:c.4897-1G>A;ENST00000503781:exon35:c.4856-1G>A;ENST00000580640:exon37:c.4931-1G>A)	.	.	0.999957301119924	0.894
18	10718259	T	A	18	10718261	y	y	splicing	PIEZO2(NM_022068:exon35:c.4856-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4856-2A>T;ENST00000582913:exon36:c.4897-2A>T;ENST00000503781:exon35:c.4856-2A>T;ENST00000580640:exon37:c.4931-2A>T)	.	.	0.99996764000787	0.918
18	10718259	T	C	18	10718261	y	y	splicing	PIEZO2(NM_022068:exon35:c.4856-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4856-2A>G;ENST00000582913:exon36:c.4897-2A>G;ENST00000503781:exon35:c.4856-2A>G;ENST00000580640:exon37:c.4931-2A>G)	.	.	0.99996764000787	0.916
18	10718259	T	G	18	10718261	y	y	splicing	PIEZO2(NM_022068:exon35:c.4856-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon35:c.4856-2A>C;ENST00000582913:exon36:c.4897-2A>C;ENST00000503781:exon35:c.4856-2A>C;ENST00000580640:exon37:c.4931-2A>C)	.	.	0.99996764000787	0.916
18	10718260	G	A	18	10718262	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.419138897822395	0.418
18	10718260	G	C	18	10718262	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999975838797236	0.816
18	10718260	G	T	18	10718262	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999773460841573	0.824
18	10718261	C	A	18	10718263	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.94493172288802E-5	0.074
18	10718261	C	G	18	10718263	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.92265577973144E-5	0.01
18	10718261	C	T	18	10718263	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.37483179494201E-5	0.046
18	10718262	C	A	18	10718264	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.29716171854742E-4	0.042
18	10718262	C	G	18	10718264	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.29716171854742E-4	0.048
18	10718262	C	T	18	10718264	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998172151479689	0.966
18	10718263	A	C	18	10718265	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0137332270964761	0.452
18	10718263	A	G	18	10718265	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.367486565532E-4	0.066
18	10718263	A	T	18	10718265	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999940350268538	0.944
18	10718264	A	C	18	10718266	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.772803642495336	0.542
18	10718264	A	G	18	10718266	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.19001688952287E-5	0.038
18	10718264	A	T	18	10718266	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0173392431616588	0.318
18	10718265	G	A	18	10718267	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.20749830594518E-5	0.0
18	10718265	G	C	18	10718267	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995234403400295	0.858
18	10718265	G	T	18	10718267	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.43060588961606E-4	0.116
18	10718266	T	A	18	10718268	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.63960480332225E-4	0.082
18	10718266	T	C	18	10718268	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.22599409784092E-4	0.032
18	10718266	T	G	18	10718268	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.84051861393461E-4	0.032
18	10718267	G	A	18	10718269	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.27299790461216E-4	0.002
18	10718267	G	C	18	10718269	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999907457289897	0.98
18	10718267	G	T	18	10718269	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00292317144045191	0.114
18	10718268	T	A	18	10718270	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00106931825205016	0.114
18	10718268	T	C	18	10718270	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.12275405786979E-4	0.032
18	10718268	T	G	18	10718270	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.63777962767485E-4	0.056
18	10718269	G	A	18	10718271	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.32950211287854E-4	0.088
18	10718269	G	C	18	10718271	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99990126731175	0.974
18	10718269	G	T	18	10718271	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0334140251018896	0.128
18	10731397	C	A	18	10731399	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.34526447796826E-5	0.004
18	10731397	C	G	18	10731399	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.34526447796826E-5	0.004
18	10731397	C	T	18	10731399	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.34526447796826E-5	0.004
18	10731398	C	A	18	10731400	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.28783839006014E-5	0.0
18	10731398	C	G	18	10731400	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.87680416612575E-5	0.0
18	10731398	C	T	18	10731400	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.87680416612575E-5	0.0
18	10731399	A	C	18	10731401	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0178730205483394	0.328
18	10731399	A	G	18	10731401	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.052429489926642	0.32
18	10731399	A	T	18	10731401	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.667348478615776	0.44
18	10731400	C	A	18	10731402	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999846053069607	0.928
18	10731400	C	G	18	10731402	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999974417542547	0.94
18	10731400	C	T	18	10731402	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999795592864547	0.936
18	10731401	T	A	18	10731403	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.975813861487214	0.708
18	10731401	T	C	18	10731403	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.966676507303209	0.69
18	10731401	T	G	18	10731403	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.148228518412989	0.468
18	10731402	C	A	18	10731404	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993672751220712	0.636
18	10731402	C	G	18	10731404	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.97347489735186	0.704
18	10731402	C	T	18	10731404	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.97474835944471E-4	0.002
18	10731403	A	C	18	10731405	y	y	splicing	PIEZO2(NM_022068:exon34:c.4855+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4855+2T>G;ENST00000582913:exon35:c.4896+2T>G;ENST00000503781:exon34:c.4855+2T>G;ENST00000580640:exon36:c.4930+2T>G)	.	.	0.99992617752697	0.932
18	10731403	A	G	18	10731405	y	y	splicing	PIEZO2(NM_022068:exon34:c.4855+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4855+2T>C;ENST00000582913:exon35:c.4896+2T>C;ENST00000503781:exon34:c.4855+2T>C;ENST00000580640:exon36:c.4930+2T>C)	.	.	0.999790060562283	0.924
18	10731403	A	T	18	10731405	y	y	splicing	PIEZO2(NM_022068:exon34:c.4855+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4855+2T>A;ENST00000582913:exon35:c.4896+2T>A;ENST00000503781:exon34:c.4855+2T>A;ENST00000580640:exon36:c.4930+2T>A)	.	.	0.999939583170295	0.934
18	10731404	C	A	18	10731406	y	y	splicing	PIEZO2(NM_022068:exon34:c.4855+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4855+1G>T;ENST00000582913:exon35:c.4896+1G>T;ENST00000503781:exon34:c.4855+1G>T;ENST00000580640:exon36:c.4930+1G>T)	.	.	0.999938422912956	0.946
18	10731404	C	G	18	10731406	y	y	splicing	PIEZO2(NM_022068:exon34:c.4855+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4855+1G>C;ENST00000582913:exon35:c.4896+1G>C;ENST00000503781:exon34:c.4855+1G>C;ENST00000580640:exon36:c.4930+1G>C)	.	.	0.999938422912956	0.95
18	10731404	C	T	18	10731406	y	y	splicing	PIEZO2(NM_022068:exon34:c.4855+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4855+1G>A;ENST00000582913:exon35:c.4896+1G>A;ENST00000503781:exon34:c.4855+1G>A;ENST00000580640:exon36:c.4930+1G>A)	.	.	0.999938422912956	0.942
18	10731405	C	A	18	10731407	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.G4855T:p.G1619C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.G4930T:p.G1644C;ENSG00000154864:ENST00000503781:exon33:c.G4855T:p.G1619C;ENSG00000154864:ENST00000302079:exon33:c.G4855T:p.G1619C;	0.93249535506123	0.644
18	10731405	C	G	18	10731407	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.G4855C:p.G1619R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.G4930C:p.G1644R;ENSG00000154864:ENST00000503781:exon33:c.G4855C:p.G1619R;ENSG00000154864:ENST00000302079:exon33:c.G4855C:p.G1619R;	0.977659393524225	0.618
18	10731405	C	T	18	10731407	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.G4855A:p.G1619S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.G4930A:p.G1644S;ENSG00000154864:ENST00000503781:exon33:c.G4855A:p.G1619S;ENSG00000154864:ENST00000302079:exon33:c.G4855A:p.G1619S;	0.943062771595687	0.652
18	10731406	C	A	18	10731408	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.G4854T:p.E1618D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.G4929T:p.E1643D;ENSG00000154864:ENST00000503781:exon33:c.G4854T:p.E1618D;ENSG00000154864:ENST00000302079:exon33:c.G4854T:p.E1618D;	7.52206144559073E-5	0.012
18	10731406	C	G	18	10731408	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.G4854C:p.E1618D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.G4929C:p.E1643D;ENSG00000154864:ENST00000503781:exon33:c.G4854C:p.E1618D;ENSG00000154864:ENST00000302079:exon33:c.G4854C:p.E1618D;	3.39932749820087E-5	0.022
18	10731406	C	T	18	10731408	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon33:c.G4854A:p.E1618E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.G4929A:p.E1643E;ENSG00000154864:ENST00000503781:exon33:c.G4854A:p.E1618E;ENSG00000154864:ENST00000302079:exon33:c.G4854A:p.E1618E;	3.45562622976515E-5	0.006
18	10731407	T	A	18	10731409	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.A4853T:p.E1618V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.A4928T:p.E1643V;ENSG00000154864:ENST00000503781:exon33:c.A4853T:p.E1618V;ENSG00000154864:ENST00000302079:exon33:c.A4853T:p.E1618V;	0.00423847282628246	0.104
18	10731407	T	C	18	10731409	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.A4853G:p.E1618G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.A4928G:p.E1643G;ENSG00000154864:ENST00000503781:exon33:c.A4853G:p.E1618G;ENSG00000154864:ENST00000302079:exon33:c.A4853G:p.E1618G;	3.21026436395518E-4	0.0
18	10731407	T	G	18	10731409	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.A4853C:p.E1618A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.A4928C:p.E1643A;ENSG00000154864:ENST00000503781:exon33:c.A4853C:p.E1618A;ENSG00000154864:ENST00000302079:exon33:c.A4853C:p.E1618A;	2.65833110583318E-4	0.0
18	10731518	A	C	18	10731520	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.T4742G:p.F1581C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.T4817G:p.F1606C;ENSG00000154864:ENST00000503781:exon33:c.T4742G:p.F1581C;ENSG00000154864:ENST00000302079:exon33:c.T4742G:p.F1581C;	0.034321631924703	0.106
18	10731518	A	G	18	10731520	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.T4742C:p.F1581S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.T4817C:p.F1606S;ENSG00000154864:ENST00000503781:exon33:c.T4742C:p.F1581S;ENSG00000154864:ENST00000302079:exon33:c.T4742C:p.F1581S;	0.0614939822324967	0.216
18	10731518	A	T	18	10731520	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.T4742A:p.F1581Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.T4817A:p.F1606Y;ENSG00000154864:ENST00000503781:exon33:c.T4742A:p.F1581Y;ENSG00000154864:ENST00000302079:exon33:c.T4742A:p.F1581Y;	0.199074337417162	0.322
18	10731519	A	C	18	10731521	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.T4741G:p.F1581V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.T4816G:p.F1606V;ENSG00000154864:ENST00000503781:exon33:c.T4741G:p.F1581V;ENSG00000154864:ENST00000302079:exon33:c.T4741G:p.F1581V;	0.0266808072883967	0.188
18	10731519	A	G	18	10731521	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.T4741C:p.F1581L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.T4816C:p.F1606L;ENSG00000154864:ENST00000503781:exon33:c.T4741C:p.F1581L;ENSG00000154864:ENST00000302079:exon33:c.T4741C:p.F1581L;	0.350521519713242	0.484
18	10731519	A	T	18	10731521	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon33:c.T4741A:p.F1581I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon35:c.T4816A:p.F1606I;ENSG00000154864:ENST00000503781:exon33:c.T4741A:p.F1581I;ENSG00000154864:ENST00000302079:exon33:c.T4741A:p.F1581I;	0.133629305492246	0.424
18	10731520	C	A	18	10731522	y	y	splicing	PIEZO2(NM_022068:exon34:c.4741-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4741-1G>T;ENST00000582913:exon35:c.4782-1G>T;ENST00000503781:exon34:c.4741-1G>T;ENST00000580640:exon36:c.4816-1G>T;ENST00000383408:exon21:c.2605-1G>T)	.	.	0.999986675681007	0.934
18	10731520	C	G	18	10731522	y	y	splicing	PIEZO2(NM_022068:exon34:c.4741-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4741-1G>C;ENST00000582913:exon35:c.4782-1G>C;ENST00000503781:exon34:c.4741-1G>C;ENST00000580640:exon36:c.4816-1G>C;ENST00000383408:exon21:c.2605-1G>C)	.	.	0.999986675681007	0.934
18	10731520	C	T	18	10731522	y	y	splicing	PIEZO2(NM_022068:exon34:c.4741-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4741-1G>A;ENST00000582913:exon35:c.4782-1G>A;ENST00000503781:exon34:c.4741-1G>A;ENST00000580640:exon36:c.4816-1G>A;ENST00000383408:exon21:c.2605-1G>A)	.	.	0.999986675681007	0.934
18	10731521	T	A	18	10731523	y	y	splicing	PIEZO2(NM_022068:exon34:c.4741-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4741-2A>T;ENST00000582913:exon35:c.4782-2A>T;ENST00000503781:exon34:c.4741-2A>T;ENST00000580640:exon36:c.4816-2A>T;ENST00000383408:exon21:c.2605-2A>T)	.	.	0.999989917668626	0.926
18	10731521	T	C	18	10731523	y	y	splicing	PIEZO2(NM_022068:exon34:c.4741-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4741-2A>G;ENST00000582913:exon35:c.4782-2A>G;ENST00000503781:exon34:c.4741-2A>G;ENST00000580640:exon36:c.4816-2A>G;ENST00000383408:exon21:c.2605-2A>G)	.	.	0.999989917668626	0.926
18	10731521	T	G	18	10731523	y	y	splicing	PIEZO2(NM_022068:exon34:c.4741-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon34:c.4741-2A>C;ENST00000582913:exon35:c.4782-2A>C;ENST00000503781:exon34:c.4741-2A>C;ENST00000580640:exon36:c.4816-2A>C;ENST00000383408:exon21:c.2605-2A>C)	.	.	0.999989917668626	0.926
18	10731522	G	A	18	10731524	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.42714641917121E-4	0.01
18	10731522	G	C	18	10731524	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999631432376652	0.954
18	10731522	G	T	18	10731524	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.911214439970628	0.592
18	10731523	A	C	18	10731525	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.70146946167293E-4	0.066
18	10731523	A	G	18	10731525	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.91003921167064E-4	0.03
18	10731523	A	T	18	10731525	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.64643941599566E-4	0.006
18	10731524	A	C	18	10731526	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00717752635842519	0.238
18	10731524	A	G	18	10731526	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00267538116004646	0.042
18	10731524	A	T	18	10731526	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0107477937935868	0.336
18	10731525	G	A	18	10731527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.21560414355011E-4	0.054
18	10731525	G	C	18	10731527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00431349585116774	0.126
18	10731525	G	T	18	10731527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00151881426582963	0.08
18	10731526	G	A	18	10731528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.55272394961378E-5	0.0
18	10731526	G	C	18	10731528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0014864403423163	0.086
18	10731526	G	T	18	10731528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00122843057894299	0.08
18	10731527	G	A	18	10731529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.42601325257705E-5	0.0
18	10731527	G	C	18	10731529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00171132118829148	0.046
18	10731527	G	T	18	10731529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.55077337261165E-4	0.086
18	10731528	A	C	18	10731530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00329438173513351	0.128
18	10731528	A	G	18	10731530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.56889777067696E-4	0.022
18	10731528	A	T	18	10731530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00165456447906518	0.096
18	10731529	G	A	18	10731531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.40999479606475E-5	0.0
18	10731529	G	C	18	10731531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.56229023236396E-4	0.048
18	10731529	G	T	18	10731531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00171350481640731	0.064
18	10731530	A	C	18	10731532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0698867822213928	0.31
18	10731530	A	G	18	10731532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.83127854629818E-4	0.05
18	10731530	A	T	18	10731532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.298235376718808	0.356
18	10731531	A	C	18	10731533	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00277241395892563	0.164
18	10731531	A	G	18	10731533	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0010792346948962	0.004
18	10731531	A	T	18	10731533	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00703041242807283	0.214
18	10736594	A	C	18	10736596	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.00330650606671E-4	0.0
18	10736594	A	G	18	10736596	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.7357792130175E-4	0.0
18	10736594	A	T	18	10736596	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.00330650606671E-4	0.0
18	10736595	T	A	18	10736597	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.63618347904412E-4	0.002
18	10736595	T	C	18	10736597	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.9463700616435E-4	0.0
18	10736595	T	G	18	10736597	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.17564447662592E-4	0.002
18	10736596	A	C	18	10736598	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.99738169922546E-4	0.088
18	10736596	A	G	18	10736598	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0102982660207401	0.082
18	10736596	A	T	18	10736598	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0024207217245355	0.12
18	10736597	A	C	18	10736599	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.88403201503764E-5	0.004
18	10736597	A	G	18	10736599	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.5565811225356E-5	0.002
18	10736597	A	T	18	10736599	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.62835072644225E-5	0.006
18	10736598	T	A	18	10736600	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.406069435466791	0.354
18	10736598	T	C	18	10736600	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.442656755255186	0.522
18	10736598	T	G	18	10736600	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.192468779278353	0.382
18	10736599	T	A	18	10736601	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997641265736085	0.794
18	10736599	T	C	18	10736601	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.601605820160969	0.586
18	10736599	T	G	18	10736601	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996363372850563	0.772
18	10736600	A	C	18	10736602	y	y	splicing	PIEZO2(NM_022068:exon33:c.4740+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4740+2T>G;ENST00000582913:exon34:c.4781+2T>G;ENST00000503781:exon33:c.4740+2T>G;ENST00000580640:exon35:c.4815+2T>G;ENST00000383408:exon20:c.2604+2T>G)	.	.	0.999988247793601	0.93
18	10736600	A	G	18	10736602	y	y	splicing	PIEZO2(NM_022068:exon33:c.4740+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4740+2T>C;ENST00000582913:exon34:c.4781+2T>C;ENST00000503781:exon33:c.4740+2T>C;ENST00000580640:exon35:c.4815+2T>C;ENST00000383408:exon20:c.2604+2T>C)	.	.	0.99340600729494	0.676
18	10736600	A	T	18	10736602	y	y	splicing	PIEZO2(NM_022068:exon33:c.4740+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4740+2T>A;ENST00000582913:exon34:c.4781+2T>A;ENST00000503781:exon33:c.4740+2T>A;ENST00000580640:exon35:c.4815+2T>A;ENST00000383408:exon20:c.2604+2T>A)	.	.	0.999988247793601	0.93
18	10736601	C	A	18	10736603	y	y	splicing	PIEZO2(NM_022068:exon33:c.4740+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4740+1G>T;ENST00000582913:exon34:c.4781+1G>T;ENST00000503781:exon33:c.4740+1G>T;ENST00000580640:exon35:c.4815+1G>T;ENST00000383408:exon20:c.2604+1G>T)	.	.	0.999990361384395	0.938
18	10736601	C	G	18	10736603	y	y	splicing	PIEZO2(NM_022068:exon33:c.4740+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4740+1G>C;ENST00000582913:exon34:c.4781+1G>C;ENST00000503781:exon33:c.4740+1G>C;ENST00000580640:exon35:c.4815+1G>C;ENST00000383408:exon20:c.2604+1G>C)	.	.	0.999990361384395	0.938
18	10736601	C	T	18	10736603	y	y	splicing	PIEZO2(NM_022068:exon33:c.4740+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4740+1G>A;ENST00000582913:exon34:c.4781+1G>A;ENST00000503781:exon33:c.4740+1G>A;ENST00000580640:exon35:c.4815+1G>A;ENST00000383408:exon20:c.2604+1G>A)	.	.	0.999990361384395	0.938
18	10736602	C	A	18	10736604	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.G4740T:p.Q1580H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.G4815T:p.Q1605H;ENSG00000154864:ENST00000503781:exon32:c.G4740T:p.Q1580H;ENSG00000154864:ENST00000302079:exon32:c.G4740T:p.Q1580H;	0.999913854677631	0.986
18	10736602	C	G	18	10736604	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.G4740C:p.Q1580H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.G4815C:p.Q1605H;ENSG00000154864:ENST00000503781:exon32:c.G4740C:p.Q1580H;ENSG00000154864:ENST00000302079:exon32:c.G4740C:p.Q1580H;	0.999987129345062	0.998
18	10736602	C	T	18	10736604	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon32:c.G4740A:p.Q1580Q;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.G4815A:p.Q1605Q;ENSG00000154864:ENST00000503781:exon32:c.G4740A:p.Q1580Q;ENSG00000154864:ENST00000302079:exon32:c.G4740A:p.Q1580Q;	0.99993672438185	0.996
18	10736603	T	A	18	10736605	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.A4739T:p.Q1580L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.A4814T:p.Q1605L;ENSG00000154864:ENST00000503781:exon32:c.A4739T:p.Q1580L;ENSG00000154864:ENST00000302079:exon32:c.A4739T:p.Q1580L;	0.998326066435271	0.964
18	10736603	T	C	18	10736605	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.A4739G:p.Q1580R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.A4814G:p.Q1605R;ENSG00000154864:ENST00000503781:exon32:c.A4739G:p.Q1580R;ENSG00000154864:ENST00000302079:exon32:c.A4739G:p.Q1580R;	0.994169531042308	0.932
18	10736603	T	G	18	10736605	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.A4739C:p.Q1580P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.A4814C:p.Q1605P;ENSG00000154864:ENST00000503781:exon32:c.A4739C:p.Q1580P;ENSG00000154864:ENST00000302079:exon32:c.A4739C:p.Q1580P;	0.983765843468197	0.822
18	10736604	G	A	18	10736606	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon32:c.C4738T:p.Q1580X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon34:c.C4813T:p.Q1605X;ENSG00000154864:ENST00000503781:exon32:c.C4738T:p.Q1580X;ENSG00000154864:ENST00000302079:exon32:c.C4738T:p.Q1580X;	0.999090067702356	0.918
18	10736604	G	C	18	10736606	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.C4738G:p.Q1580E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.C4813G:p.Q1605E;ENSG00000154864:ENST00000503781:exon32:c.C4738G:p.Q1580E;ENSG00000154864:ENST00000302079:exon32:c.C4738G:p.Q1580E;	0.87099223064511	0.562
18	10736604	G	T	18	10736606	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.C4738A:p.Q1580K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.C4813A:p.Q1605K;ENSG00000154864:ENST00000503781:exon32:c.C4738A:p.Q1580K;ENSG00000154864:ENST00000302079:exon32:c.C4738A:p.Q1580K;	0.919584988629554	0.738
18	10736707	C	A	18	10736709	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.G4635T:p.M1545I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.G4710T:p.M1570I;ENSG00000154864:ENST00000503781:exon32:c.G4635T:p.M1545I;ENSG00000154864:ENST00000302079:exon32:c.G4635T:p.M1545I;	0.977127817373827	0.706
18	10736707	C	G	18	10736709	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.G4635C:p.M1545I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.G4710C:p.M1570I;ENSG00000154864:ENST00000503781:exon32:c.G4635C:p.M1545I;ENSG00000154864:ENST00000302079:exon32:c.G4635C:p.M1545I;	0.971189275224474	0.724
18	10736707	C	T	18	10736709	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.G4635A:p.M1545I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.G4710A:p.M1570I;ENSG00000154864:ENST00000503781:exon32:c.G4635A:p.M1545I;ENSG00000154864:ENST00000302079:exon32:c.G4635A:p.M1545I;	0.973330425299565	0.68
18	10736708	A	C	18	10736710	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.T4634G:p.M1545R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.T4709G:p.M1570R;ENSG00000154864:ENST00000503781:exon32:c.T4634G:p.M1545R;ENSG00000154864:ENST00000302079:exon32:c.T4634G:p.M1545R;	0.0388289372916946	0.178
18	10736708	A	G	18	10736710	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.T4634C:p.M1545T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.T4709C:p.M1570T;ENSG00000154864:ENST00000503781:exon32:c.T4634C:p.M1545T;ENSG00000154864:ENST00000302079:exon32:c.T4634C:p.M1545T;	0.0216225622637668	0.084
18	10736708	A	T	18	10736710	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon32:c.T4634A:p.M1545K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon34:c.T4709A:p.M1570K;ENSG00000154864:ENST00000503781:exon32:c.T4634A:p.M1545K;ENSG00000154864:ENST00000302079:exon32:c.T4634A:p.M1545K;	0.096599114348945	0.376
18	10736709	C	A	18	10736711	y	y	splicing	PIEZO2(NM_022068:exon33:c.4634-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4634-1G>T;ENST00000582913:exon34:c.4675-1G>T;ENST00000503781:exon33:c.4634-1G>T;ENST00000580640:exon35:c.4709-1G>T;ENST00000383408:exon20:c.2498-1G>T)	.	.	0.999990361384395	0.948
18	10736709	C	G	18	10736711	y	y	splicing	PIEZO2(NM_022068:exon33:c.4634-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4634-1G>C;ENST00000582913:exon34:c.4675-1G>C;ENST00000503781:exon33:c.4634-1G>C;ENST00000580640:exon35:c.4709-1G>C;ENST00000383408:exon20:c.2498-1G>C)	.	.	0.999990361384395	0.948
18	10736709	C	T	18	10736711	y	y	splicing	PIEZO2(NM_022068:exon33:c.4634-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4634-1G>A;ENST00000582913:exon34:c.4675-1G>A;ENST00000503781:exon33:c.4634-1G>A;ENST00000580640:exon35:c.4709-1G>A;ENST00000383408:exon20:c.2498-1G>A)	.	.	0.999990361384395	0.948
18	10736710	T	A	18	10736712	y	y	splicing	PIEZO2(NM_022068:exon33:c.4634-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4634-2A>T;ENST00000582913:exon34:c.4675-2A>T;ENST00000503781:exon33:c.4634-2A>T;ENST00000580640:exon35:c.4709-2A>T;ENST00000383408:exon20:c.2498-2A>T)	.	.	0.999988247793601	0.95
18	10736710	T	C	18	10736712	y	y	splicing	PIEZO2(NM_022068:exon33:c.4634-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4634-2A>G;ENST00000582913:exon34:c.4675-2A>G;ENST00000503781:exon33:c.4634-2A>G;ENST00000580640:exon35:c.4709-2A>G;ENST00000383408:exon20:c.2498-2A>G)	.	.	0.999988247793601	0.95
18	10736710	T	G	18	10736712	y	y	splicing	PIEZO2(NM_022068:exon33:c.4634-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon33:c.4634-2A>C;ENST00000582913:exon34:c.4675-2A>C;ENST00000503781:exon33:c.4634-2A>C;ENST00000580640:exon35:c.4709-2A>C;ENST00000383408:exon20:c.2498-2A>C)	.	.	0.999988247793601	0.95
18	10736711	A	C	18	10736713	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999753980680618	0.916
18	10736711	A	G	18	10736713	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.91589142276766E-5	0.042
18	10736711	A	T	18	10736713	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.907062848421049	0.602
18	10736712	A	C	18	10736714	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.38217100507366E-4	0.08
18	10736712	A	G	18	10736714	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.2125005023319E-5	0.0
18	10736712	A	T	18	10736714	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00124384580274643	0.006
18	10736713	G	A	18	10736715	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.55893567670683E-5	0.0
18	10736713	G	C	18	10736715	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0902733034410652	0.174
18	10736713	G	T	18	10736715	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00179833161893474	0.078
18	10736714	C	A	18	10736716	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.30602477602747E-4	0.016
18	10736714	C	G	18	10736716	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.25291204632777E-4	0.086
18	10736714	C	T	18	10736716	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.51257944820922E-4	0.002
18	10736715	A	C	18	10736717	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0225648289348244	0.158
18	10736715	A	G	18	10736717	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.70895078235545E-4	0.102
18	10736715	A	T	18	10736717	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999907838890465	0.958
18	10736716	A	C	18	10736718	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0783240483264577	0.354
18	10736716	A	G	18	10736718	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00133721507673693	0.024
18	10736716	A	T	18	10736718	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.937679154254364	0.786
18	10736717	A	C	18	10736719	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999581486759639	0.952
18	10736717	A	G	18	10736719	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.834560545805347	0.5
18	10736717	A	T	18	10736719	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998894821526541	0.908
18	10736718	A	C	18	10736720	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999350007195517	0.938
18	10736718	A	G	18	10736720	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.825348994485388	0.528
18	10736718	A	T	18	10736720	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999669136310063	0.932
18	10736719	C	A	18	10736721	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.97518853819966	0.692
18	10736719	C	G	18	10736721	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.984459528244975	0.766
18	10736719	C	T	18	10736721	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.992784436569073	0.722
18	10736720	A	C	18	10736722	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.985485986842233	0.83
18	10736720	A	G	18	10736722	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0242375086820248	0.154
18	10736720	A	T	18	10736722	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999985232624985	0.978
18	10741021	A	C	18	10741023	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	1.25507531063359E-4	0.014
18	10741021	A	G	18	10741023	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	6.72409308981913E-4	0.178
18	10741021	A	T	18	10741023	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	2.05589058972372E-4	0.014
18	10741022	A	C	18	10741024	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.0388409260382019	0.208
18	10741022	A	G	18	10741024	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.0467349171303315	0.216
18	10741022	A	T	18	10741024	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.143890853284403	0.426
18	10741023	A	C	18	10741025	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.995606363846095	0.804
18	10741023	A	G	18	10741025	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.996127759512396	0.836
18	10741023	A	T	18	10741025	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.996415937955033	0.78
18	10741024	C	A	18	10741026	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.999962670684518	0.886
18	10741024	C	G	18	10741026	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.999962670684518	0.944
18	10741024	C	T	18	10741026	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.999964367262434	0.92
18	10741025	C	A	18	10741027	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.00549283374275304	0.272
18	10741025	C	G	18	10741027	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.0132209453728574	0.414
18	10741025	C	T	18	10741027	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.00479335653467119	0.21
18	10741026	T	A	18	10741028	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.999910866980911	0.936
18	10741026	T	C	18	10741028	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.995447085037165	0.852
18	10741026	T	G	18	10741028	y	n	intronic	PIEZO2	.	.	exonic	ENSG00000154864	unknown	UNKNOWN	0.999875105143578	0.918
18	10741027	A	C	18	10741029	y	n	splicing	PIEZO2(NM_022068:exon32:c.4633+2T>G)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon32:c.4633+2T>G;ENST00000582913:exon33:c.4674+2T>G;ENST00000503781:exon32:c.4633+2T>G;ENST00000580640:exon34:c.4708+2T>G;ENST00000383408:exon19:c.2497+2T>G)	unknown	UNKNOWN	0.999936602483575	0.916
18	10741027	A	G	18	10741029	y	n	splicing	PIEZO2(NM_022068:exon32:c.4633+2T>C)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon32:c.4633+2T>C;ENST00000582913:exon33:c.4674+2T>C;ENST00000503781:exon32:c.4633+2T>C;ENST00000580640:exon34:c.4708+2T>C;ENST00000383408:exon19:c.2497+2T>C)	unknown	UNKNOWN	0.931883815592825	0.606
18	10741027	A	T	18	10741029	y	n	splicing	PIEZO2(NM_022068:exon32:c.4633+2T>A)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon32:c.4633+2T>A;ENST00000582913:exon33:c.4674+2T>A;ENST00000503781:exon32:c.4633+2T>A;ENST00000580640:exon34:c.4708+2T>A;ENST00000383408:exon19:c.2497+2T>A)	unknown	UNKNOWN	0.999936602483575	0.916
18	10741028	C	A	18	10741030	y	n	splicing	PIEZO2(NM_022068:exon32:c.4633+1G>T)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon32:c.4633+1G>T;ENST00000582913:exon33:c.4674+1G>T;ENST00000503781:exon32:c.4633+1G>T;ENST00000580640:exon34:c.4708+1G>T;ENST00000383408:exon19:c.2497+1G>T)	unknown	UNKNOWN	0.999969286908948	0.904
18	10741028	C	G	18	10741030	y	n	splicing	PIEZO2(NM_022068:exon32:c.4633+1G>C)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon32:c.4633+1G>C;ENST00000582913:exon33:c.4674+1G>C;ENST00000503781:exon32:c.4633+1G>C;ENST00000580640:exon34:c.4708+1G>C;ENST00000383408:exon19:c.2497+1G>C)	unknown	UNKNOWN	0.999969286908948	0.904
18	10741028	C	T	18	10741030	y	n	splicing	PIEZO2(NM_022068:exon32:c.4633+1G>A)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon32:c.4633+1G>A;ENST00000582913:exon33:c.4674+1G>A;ENST00000503781:exon32:c.4633+1G>A;ENST00000580640:exon34:c.4708+1G>A;ENST00000383408:exon19:c.2497+1G>A)	unknown	UNKNOWN	0.999969286908948	0.904
18	10741029	T	A	18	10741031	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.A4633T:p.M1545L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.A4708T:p.M1570L;ENSG00000154864:ENST00000503781:exon31:c.A4633T:p.M1545L;ENSG00000154864:ENST00000302079:exon31:c.A4633T:p.M1545L;	0.749743550781138	0.396
18	10741029	T	C	18	10741031	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.A4633G:p.M1545V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.A4708G:p.M1570V;ENSG00000154864:ENST00000503781:exon31:c.A4633G:p.M1545V;ENSG00000154864:ENST00000302079:exon31:c.A4633G:p.M1545V;	0.00246434100225348	0.102
18	10741029	T	G	18	10741031	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.A4633C:p.M1545L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.A4708C:p.M1570L;ENSG00000154864:ENST00000503781:exon31:c.A4633C:p.M1545L;ENSG00000154864:ENST00000302079:exon31:c.A4633C:p.M1545L;	0.802508015295898	0.648
18	10741030	G	A	18	10741032	y	n	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon31:c.C4632T:p.S1544S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.C4707T:p.S1569S;ENSG00000154864:ENST00000503781:exon31:c.C4632T:p.S1544S;ENSG00000154864:ENST00000302079:exon31:c.C4632T:p.S1544S;	0.66217856634002	0.496
18	10741030	G	C	18	10741032	y	n	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon31:c.C4632G:p.S1544S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.C4707G:p.S1569S;ENSG00000154864:ENST00000503781:exon31:c.C4632G:p.S1544S;ENSG00000154864:ENST00000302079:exon31:c.C4632G:p.S1544S;	0.337898107279279	0.328
18	10741030	G	T	18	10741032	y	n	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon31:c.C4632A:p.S1544S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.C4707A:p.S1569S;ENSG00000154864:ENST00000503781:exon31:c.C4632A:p.S1544S;ENSG00000154864:ENST00000302079:exon31:c.C4632A:p.S1544S;	0.166555130369188	0.354
18	10741031	G	A	18	10741033	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.C4631T:p.S1544F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.C4706T:p.S1569F;ENSG00000154864:ENST00000503781:exon31:c.C4631T:p.S1544F;ENSG00000154864:ENST00000302079:exon31:c.C4631T:p.S1544F;	0.994847054466095	0.87
18	10741031	G	C	18	10741033	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.C4631G:p.S1544C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.C4706G:p.S1569C;ENSG00000154864:ENST00000503781:exon31:c.C4631G:p.S1544C;ENSG00000154864:ENST00000302079:exon31:c.C4631G:p.S1544C;	0.94258654567	0.64
18	10741031	G	T	18	10741033	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.C4631A:p.S1544Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.C4706A:p.S1569Y;ENSG00000154864:ENST00000503781:exon31:c.C4631A:p.S1544Y;ENSG00000154864:ENST00000302079:exon31:c.C4631A:p.S1544Y;	0.740819246260394	0.628
18	10741099	T	A	18	10741101	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.A4563T:p.R1521S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.A4638T:p.R1546S;ENSG00000154864:ENST00000503781:exon31:c.A4563T:p.R1521S;ENSG00000154864:ENST00000302079:exon31:c.A4563T:p.R1521S;	0.0345170553714872	0.326
18	10741099	T	C	18	10741101	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon31:c.A4563G:p.R1521R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.A4638G:p.R1546R;ENSG00000154864:ENST00000503781:exon31:c.A4563G:p.R1521R;ENSG00000154864:ENST00000302079:exon31:c.A4563G:p.R1521R;	0.136472655534809	0.288
18	10741099	T	G	18	10741101	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.A4563C:p.R1521S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.A4638C:p.R1546S;ENSG00000154864:ENST00000503781:exon31:c.A4563C:p.R1521S;ENSG00000154864:ENST00000302079:exon31:c.A4563C:p.R1521S;	0.0885249104425173	0.284
18	10741100	C	A	18	10741102	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.G4562T:p.R1521I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.G4637T:p.R1546I;ENSG00000154864:ENST00000503781:exon31:c.G4562T:p.R1521I;ENSG00000154864:ENST00000302079:exon31:c.G4562T:p.R1521I;	0.999794289815795	0.976
18	10741100	C	G	18	10741102	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.G4562C:p.R1521T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.G4637C:p.R1546T;ENSG00000154864:ENST00000503781:exon31:c.G4562C:p.R1521T;ENSG00000154864:ENST00000302079:exon31:c.G4562C:p.R1521T;	0.99803222004022	0.962
18	10741100	C	T	18	10741102	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon31:c.G4562A:p.R1521K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon33:c.G4637A:p.R1546K;ENSG00000154864:ENST00000503781:exon31:c.G4562A:p.R1521K;ENSG00000154864:ENST00000302079:exon31:c.G4562A:p.R1521K;	0.998898336498699	0.87
18	10741101	C	A	18	10741103	y	y	splicing	PIEZO2(NM_022068:exon32:c.4562-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon32:c.4562-1G>T;ENST00000582913:exon33:c.4603-1G>T;ENST00000503781:exon32:c.4562-1G>T;ENST00000580640:exon34:c.4637-1G>T;ENST00000383408:exon19:c.2426-1G>T;ENST00000579949:exon5:c.243-1G>T)	.	.	0.999981760802075	0.926
18	10741101	C	G	18	10741103	y	y	splicing	PIEZO2(NM_022068:exon32:c.4562-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon32:c.4562-1G>C;ENST00000582913:exon33:c.4603-1G>C;ENST00000503781:exon32:c.4562-1G>C;ENST00000580640:exon34:c.4637-1G>C;ENST00000383408:exon19:c.2426-1G>C;ENST00000579949:exon5:c.243-1G>C)	.	.	0.999981760802075	0.924
18	10741101	C	T	18	10741103	y	y	splicing	PIEZO2(NM_022068:exon32:c.4562-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon32:c.4562-1G>A;ENST00000582913:exon33:c.4603-1G>A;ENST00000503781:exon32:c.4562-1G>A;ENST00000580640:exon34:c.4637-1G>A;ENST00000383408:exon19:c.2426-1G>A;ENST00000579949:exon5:c.243-1G>A)	.	.	0.999981760802075	0.926
18	10741102	T	A	18	10741104	y	y	splicing	PIEZO2(NM_022068:exon32:c.4562-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon32:c.4562-2A>T;ENST00000582913:exon33:c.4603-2A>T;ENST00000503781:exon32:c.4562-2A>T;ENST00000580640:exon34:c.4637-2A>T;ENST00000383408:exon19:c.2426-2A>T;ENST00000579949:exon5:c.243-2A>T)	.	.	0.999989917668626	0.914
18	10741102	T	C	18	10741104	y	y	splicing	PIEZO2(NM_022068:exon32:c.4562-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon32:c.4562-2A>G;ENST00000582913:exon33:c.4603-2A>G;ENST00000503781:exon32:c.4562-2A>G;ENST00000580640:exon34:c.4637-2A>G;ENST00000383408:exon19:c.2426-2A>G;ENST00000579949:exon5:c.243-2A>G)	.	.	0.999989917668626	0.914
18	10741102	T	G	18	10741104	y	y	splicing	PIEZO2(NM_022068:exon32:c.4562-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon32:c.4562-2A>C;ENST00000582913:exon33:c.4603-2A>C;ENST00000503781:exon32:c.4562-2A>C;ENST00000580640:exon34:c.4637-2A>C;ENST00000383408:exon19:c.2426-2A>C;ENST00000579949:exon5:c.243-2A>C)	.	.	0.999989917668626	0.914
18	10741103	A	C	18	10741105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996946453423346	0.874
18	10741103	A	G	18	10741105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00623944890362983	0.204
18	10741103	A	T	18	10741105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.95059414036767	0.64
18	10741104	A	C	18	10741106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0526161771878649	0.202
18	10741104	A	G	18	10741106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00917325120695555	0.142
18	10741104	A	T	18	10741106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.2942351238479	0.388
18	10741105	A	C	18	10741107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997725731252546	0.946
18	10741105	A	G	18	10741107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.507171338929442	0.384
18	10741105	A	T	18	10741107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997935499668942	0.94
18	10741106	A	C	18	10741108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999960540937141	0.976
18	10741106	A	G	18	10741108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00438984815954368	0.2
18	10741106	A	T	18	10741108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.994213910756612	0.84
18	10741107	T	A	18	10741109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0186491097329923	0.158
18	10741107	T	C	18	10741109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0530138919151782	0.188
18	10741107	T	G	18	10741109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0061523853014954	0.064
18	10741108	A	C	18	10741110	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0219572930814975	0.296
18	10741108	A	G	18	10741110	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.18970751564499E-4	0.004
18	10741108	A	T	18	10741110	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0170285759147955	0.22
18	10741109	A	C	18	10741111	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995858299774457	0.738
18	10741109	A	G	18	10741111	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.123120179459839	0.406
18	10741109	A	T	18	10741111	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997342905222055	0.754
18	10741110	A	C	18	10741112	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997590630382577	0.876
18	10741110	A	G	18	10741112	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.070628249891758	0.394
18	10741110	A	T	18	10741112	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999396190950136	0.92
18	10741111	A	C	18	10741113	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999988056677054	0.982
18	10741111	A	G	18	10741113	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.980331762924206	0.682
18	10741111	A	T	18	10741113	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999263964070027	0.964
18	10741112	T	A	18	10741114	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.59677295646743	0.468
18	10741112	T	C	18	10741114	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.835486160120298	0.686
18	10741112	T	G	18	10741114	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.502172614913349	0.52
18	10742484	T	A	18	10742486	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.89441436649338E-5	0.03
18	10742484	T	C	18	10742486	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.22894389443643E-5	0.0
18	10742484	T	G	18	10742486	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.2479688261007E-5	0.0
18	10742485	G	A	18	10742487	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00111969309703951	0.018
18	10742485	G	C	18	10742487	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.6391177994903E-4	0.09
18	10742485	G	T	18	10742487	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.91577944109263E-5	0.004
18	10742486	A	C	18	10742488	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.994969745472453	0.742
18	10742486	A	G	18	10742488	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.920369707983354	0.598
18	10742486	A	T	18	10742488	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995341529665373	0.694
18	10742487	C	A	18	10742489	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999978538973449	0.994
18	10742487	C	G	18	10742489	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999981069812785	0.984
18	10742487	C	T	18	10742489	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99997996719958	0.994
18	10742488	A	C	18	10742490	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.04481653849302E-4	0.03
18	10742488	A	G	18	10742490	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.25266196910718E-5	0.006
18	10742488	A	T	18	10742490	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.18227032875248E-5	0.022
18	10742489	T	A	18	10742491	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99982561311488	0.938
18	10742489	T	C	18	10742491	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998493100996359	0.988
18	10742489	T	G	18	10742491	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999869785021862	0.966
18	10742490	A	C	18	10742492	y	y	splicing	PIEZO2(NM_022068:exon31:c.4561+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4561+2T>G;ENST00000582913:exon32:c.4602+2T>G;ENST00000503781:exon31:c.4561+2T>G;ENST00000580640:exon33:c.4636+2T>G;ENST00000383408:exon18:c.2425+2T>G;ENST00000579949:exon4:c.242+2T>G)	.	.	0.999988247793601	0.936
18	10742490	A	G	18	10742492	y	y	splicing	PIEZO2(NM_022068:exon31:c.4561+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4561+2T>C;ENST00000582913:exon32:c.4602+2T>C;ENST00000503781:exon31:c.4561+2T>C;ENST00000580640:exon33:c.4636+2T>C;ENST00000383408:exon18:c.2425+2T>C;ENST00000579949:exon4:c.242+2T>C)	.	.	0.995320650369382	0.712
18	10742490	A	T	18	10742492	y	y	splicing	PIEZO2(NM_022068:exon31:c.4561+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4561+2T>A;ENST00000582913:exon32:c.4602+2T>A;ENST00000503781:exon31:c.4561+2T>A;ENST00000580640:exon33:c.4636+2T>A;ENST00000383408:exon18:c.2425+2T>A;ENST00000579949:exon4:c.242+2T>A)	.	.	0.999988247793601	0.936
18	10742491	C	A	18	10742493	y	y	splicing	PIEZO2(NM_022068:exon31:c.4561+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4561+1G>T;ENST00000582913:exon32:c.4602+1G>T;ENST00000503781:exon31:c.4561+1G>T;ENST00000580640:exon33:c.4636+1G>T;ENST00000383408:exon18:c.2425+1G>T;ENST00000579949:exon4:c.242+1G>T)	.	.	0.999990361384395	0.944
18	10742491	C	G	18	10742493	y	y	splicing	PIEZO2(NM_022068:exon31:c.4561+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4561+1G>C;ENST00000582913:exon32:c.4602+1G>C;ENST00000503781:exon31:c.4561+1G>C;ENST00000580640:exon33:c.4636+1G>C;ENST00000383408:exon18:c.2425+1G>C;ENST00000579949:exon4:c.242+1G>C)	.	.	0.999990361384395	0.944
18	10742491	C	T	18	10742493	y	y	splicing	PIEZO2(NM_022068:exon31:c.4561+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4561+1G>A;ENST00000582913:exon32:c.4602+1G>A;ENST00000503781:exon31:c.4561+1G>A;ENST00000580640:exon33:c.4636+1G>A;ENST00000383408:exon18:c.2425+1G>A;ENST00000579949:exon4:c.242+1G>A)	.	.	0.999990361384395	0.944
18	10742492	T	A	18	10742494	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon30:c.A4561T:p.R1521X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon32:c.A4636T:p.R1546X;ENSG00000154864:ENST00000503781:exon30:c.A4561T:p.R1521X;ENSG00000154864:ENST00000302079:exon30:c.A4561T:p.R1521X;	0.987068988429615	0.784
18	10742492	T	C	18	10742494	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4561G:p.R1521G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4636G:p.R1546G;ENSG00000154864:ENST00000503781:exon30:c.A4561G:p.R1521G;ENSG00000154864:ENST00000302079:exon30:c.A4561G:p.R1521G;	0.00163151671317884	0.05
18	10742492	T	G	18	10742494	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon30:c.A4561C:p.R1521R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4636C:p.R1546R;ENSG00000154864:ENST00000503781:exon30:c.A4561C:p.R1521R;ENSG00000154864:ENST00000302079:exon30:c.A4561C:p.R1521R;	0.656469515466138	0.648
18	10742493	T	A	18	10742495	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4560T:p.E1520D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4635T:p.E1545D;ENSG00000154864:ENST00000503781:exon30:c.A4560T:p.E1520D;ENSG00000154864:ENST00000302079:exon30:c.A4560T:p.E1520D;	0.997064398023289	0.856
18	10742493	T	C	18	10742495	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon30:c.A4560G:p.E1520E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4635G:p.E1545E;ENSG00000154864:ENST00000503781:exon30:c.A4560G:p.E1520E;ENSG00000154864:ENST00000302079:exon30:c.A4560G:p.E1520E;	0.709472245255499	0.614
18	10742493	T	G	18	10742495	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4560C:p.E1520D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4635C:p.E1545D;ENSG00000154864:ENST00000503781:exon30:c.A4560C:p.E1520D;ENSG00000154864:ENST00000302079:exon30:c.A4560C:p.E1520D;	0.742607895219107	0.69
18	10742494	T	A	18	10742496	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4559T:p.E1520V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4634T:p.E1545V;ENSG00000154864:ENST00000503781:exon30:c.A4559T:p.E1520V;ENSG00000154864:ENST00000302079:exon30:c.A4559T:p.E1520V;	0.995092365750386	0.852
18	10742494	T	C	18	10742496	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4559G:p.E1520G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4634G:p.E1545G;ENSG00000154864:ENST00000503781:exon30:c.A4559G:p.E1520G;ENSG00000154864:ENST00000302079:exon30:c.A4559G:p.E1520G;	0.950390448691828	0.542
18	10742494	T	G	18	10742496	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4559C:p.E1520A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4634C:p.E1545A;ENSG00000154864:ENST00000503781:exon30:c.A4559C:p.E1520A;ENSG00000154864:ENST00000302079:exon30:c.A4559C:p.E1520A;	0.599062704488452	0.444
18	10742612	T	A	18	10742614	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4441T:p.M1481L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4516T:p.M1506L;ENSG00000154864:ENST00000503781:exon30:c.A4441T:p.M1481L;ENSG00000154864:ENST00000302079:exon30:c.A4441T:p.M1481L;	0.330275733173208	0.558
18	10742612	T	C	18	10742614	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4441G:p.M1481V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4516G:p.M1506V;ENSG00000154864:ENST00000503781:exon30:c.A4441G:p.M1481V;ENSG00000154864:ENST00000302079:exon30:c.A4441G:p.M1481V;	0.0364946257703755	0.06
18	10742612	T	G	18	10742614	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.A4441C:p.M1481L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.A4516C:p.M1506L;ENSG00000154864:ENST00000503781:exon30:c.A4441C:p.M1481L;ENSG00000154864:ENST00000302079:exon30:c.A4441C:p.M1481L;	0.569061947868885	0.564
18	10742613	C	A	18	10742615	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.G4440T:p.Q1480H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.G4515T:p.Q1505H;ENSG00000154864:ENST00000503781:exon30:c.G4440T:p.Q1480H;ENSG00000154864:ENST00000302079:exon30:c.G4440T:p.Q1480H;	0.536285371246478	0.51
18	10742613	C	G	18	10742615	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon30:c.G4440C:p.Q1480H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.G4515C:p.Q1505H;ENSG00000154864:ENST00000503781:exon30:c.G4440C:p.Q1480H;ENSG00000154864:ENST00000302079:exon30:c.G4440C:p.Q1480H;	0.057386989737765	0.34
18	10742613	C	T	18	10742615	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon30:c.G4440A:p.Q1480Q;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon32:c.G4515A:p.Q1505Q;ENSG00000154864:ENST00000503781:exon30:c.G4440A:p.Q1480Q;ENSG00000154864:ENST00000302079:exon30:c.G4440A:p.Q1480Q;	0.0067447321965329	0.226
18	10742614	C	A	18	10742616	y	y	splicing	PIEZO2(NM_022068:exon31:c.4440-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4440-1G>T;ENST00000582913:exon32:c.4481-1G>T;ENST00000503781:exon31:c.4440-1G>T;ENST00000580640:exon33:c.4515-1G>T;ENST00000383408:exon18:c.2304-1G>T;ENST00000579949:exon4:c.121-1G>T)	.	.	0.999990361384395	0.936
18	10742614	C	G	18	10742616	y	y	splicing	PIEZO2(NM_022068:exon31:c.4440-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4440-1G>C;ENST00000582913:exon32:c.4481-1G>C;ENST00000503781:exon31:c.4440-1G>C;ENST00000580640:exon33:c.4515-1G>C;ENST00000383408:exon18:c.2304-1G>C;ENST00000579949:exon4:c.121-1G>C)	.	.	0.999990361384395	0.936
18	10742614	C	T	18	10742616	y	y	splicing	PIEZO2(NM_022068:exon31:c.4440-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4440-1G>A;ENST00000582913:exon32:c.4481-1G>A;ENST00000503781:exon31:c.4440-1G>A;ENST00000580640:exon33:c.4515-1G>A;ENST00000383408:exon18:c.2304-1G>A;ENST00000579949:exon4:c.121-1G>A)	.	.	0.999990361384395	0.938
18	10742615	T	A	18	10742617	y	y	splicing	PIEZO2(NM_022068:exon31:c.4440-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4440-2A>T;ENST00000582913:exon32:c.4481-2A>T;ENST00000503781:exon31:c.4440-2A>T;ENST00000580640:exon33:c.4515-2A>T;ENST00000383408:exon18:c.2304-2A>T;ENST00000579949:exon4:c.121-2A>T)	.	.	0.999988247793601	0.926
18	10742615	T	C	18	10742617	y	y	splicing	PIEZO2(NM_022068:exon31:c.4440-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4440-2A>G;ENST00000582913:exon32:c.4481-2A>G;ENST00000503781:exon31:c.4440-2A>G;ENST00000580640:exon33:c.4515-2A>G;ENST00000383408:exon18:c.2304-2A>G;ENST00000579949:exon4:c.121-2A>G)	.	.	0.999988247793601	0.926
18	10742615	T	G	18	10742617	y	y	splicing	PIEZO2(NM_022068:exon31:c.4440-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon31:c.4440-2A>C;ENST00000582913:exon32:c.4481-2A>C;ENST00000503781:exon31:c.4440-2A>C;ENST00000580640:exon33:c.4515-2A>C;ENST00000383408:exon18:c.2304-2A>C;ENST00000579949:exon4:c.121-2A>C)	.	.	0.999988247793601	0.926
18	10742616	A	C	18	10742618	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.481397853185035	0.542
18	10742616	A	G	18	10742618	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.17566832662877E-5	0.002
18	10742616	A	T	18	10742618	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.43387166148015E-4	0.094
18	10742617	T	A	18	10742619	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.78399037593782E-5	0.0
18	10742617	T	C	18	10742619	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.24669965187321E-5	0.0
18	10742617	T	G	18	10742619	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.92808995239302E-6	0.002
18	10742618	A	C	18	10742620	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.142607086622673	0.234
18	10742618	A	G	18	10742620	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.78396125851318E-5	0.0
18	10742618	A	T	18	10742620	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0313363646950528	0.252
18	10742619	A	C	18	10742621	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.273953721161641	0.446
18	10742619	A	G	18	10742621	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.71881486327108E-4	0.028
18	10742619	A	T	18	10742621	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.202655238669161	0.406
18	10742620	A	C	18	10742622	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.89537795081653E-4	0.036
18	10742620	A	G	18	10742622	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.10663649801033E-6	0.0
18	10742620	A	T	18	10742622	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.85582753823607E-4	0.038
18	10742621	G	A	18	10742623	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.90829016287274E-5	0.0
18	10742621	G	C	18	10742623	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.934414442738625	0.946
18	10742621	G	T	18	10742623	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.89050924053898E-4	0.04
18	10742622	T	A	18	10742624	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.00507180511518E-5	0.0
18	10742622	T	C	18	10742624	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.64795800046541E-5	0.0
18	10742622	T	G	18	10742624	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.51962909111607E-5	0.0
18	10742623	A	C	18	10742625	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00280322661504413	0.28
18	10742623	A	G	18	10742625	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.91992767075129E-5	0.0
18	10742623	A	T	18	10742625	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00297894274813765	0.216
18	10742624	A	C	18	10742626	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0564316615353838	0.338
18	10742624	A	G	18	10742626	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00163556188647112	0.094
18	10742624	A	T	18	10742626	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.115338300324204	0.406
18	10742625	A	C	18	10742627	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00137635818455696	0.116
18	10742625	A	G	18	10742627	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.41847583354874E-5	0.004
18	10742625	A	T	18	10742627	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0013991774427435	0.114
18	10744132	A	C	18	10744134	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.02863429355649E-4	0.004
18	10744132	A	G	18	10744134	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.63224229965681E-5	0.002
18	10744132	A	T	18	10744134	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.94361857086397E-4	0.112
18	10744133	T	A	18	10744135	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00770501205726977	0.16
18	10744133	T	C	18	10744135	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00190529674330967	0.092
18	10744133	T	G	18	10744135	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.60717142776171E-4	0.046
18	10744134	C	A	18	10744136	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.78164203300522E-4	0.028
18	10744134	C	G	18	10744136	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.41926669957204E-5	0.128
18	10744134	C	T	18	10744136	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.41990442427118E-4	0.018
18	10744135	C	A	18	10744137	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999988453982068	0.96
18	10744135	C	G	18	10744137	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999981145817504	0.998
18	10744135	C	T	18	10744137	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999989815583847	1.0
18	10744136	T	A	18	10744138	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99948189577161	0.936
18	10744136	T	C	18	10744138	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999836999019096	0.988
18	10744136	T	G	18	10744138	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999700798955152	0.938
18	10744137	T	A	18	10744139	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999863964030385	0.97
18	10744137	T	C	18	10744139	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.95057225112586	0.662
18	10744137	T	G	18	10744139	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999845779346265	0.97
18	10744138	A	C	18	10744140	y	y	splicing	PIEZO2(NM_022068:exon30:c.4439+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4439+2T>G;ENST00000582913:exon31:c.4480+2T>G;ENST00000503781:exon30:c.4439+2T>G;ENST00000580640:exon32:c.4514+2T>G;ENST00000383408:exon17:c.2303+2T>G;ENST00000579949:exon3:c.120+2T>G)	.	.	0.999990764389106	0.944
18	10744138	A	G	18	10744140	y	y	splicing	PIEZO2(NM_022068:exon30:c.4439+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4439+2T>C;ENST00000582913:exon31:c.4480+2T>C;ENST00000503781:exon30:c.4439+2T>C;ENST00000580640:exon32:c.4514+2T>C;ENST00000383408:exon17:c.2303+2T>C;ENST00000579949:exon3:c.120+2T>C)	.	.	0.999923041698277	0.908
18	10744138	A	T	18	10744140	y	y	splicing	PIEZO2(NM_022068:exon30:c.4439+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4439+2T>A;ENST00000582913:exon31:c.4480+2T>A;ENST00000503781:exon30:c.4439+2T>A;ENST00000580640:exon32:c.4514+2T>A;ENST00000383408:exon17:c.2303+2T>A;ENST00000579949:exon3:c.120+2T>A)	.	.	0.999990764389106	0.944
18	10744139	C	A	18	10744141	y	y	splicing	PIEZO2(NM_022068:exon30:c.4439+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4439+1G>T;ENST00000582913:exon31:c.4480+1G>T;ENST00000503781:exon30:c.4439+1G>T;ENST00000580640:exon32:c.4514+1G>T;ENST00000383408:exon17:c.2303+1G>T;ENST00000579949:exon3:c.120+1G>T)	.	.	0.999992425382947	0.942
18	10744139	C	G	18	10744141	y	y	splicing	PIEZO2(NM_022068:exon30:c.4439+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4439+1G>C;ENST00000582913:exon31:c.4480+1G>C;ENST00000503781:exon30:c.4439+1G>C;ENST00000580640:exon32:c.4514+1G>C;ENST00000383408:exon17:c.2303+1G>C;ENST00000579949:exon3:c.120+1G>C)	.	.	0.999992425382947	0.942
18	10744139	C	T	18	10744141	y	y	splicing	PIEZO2(NM_022068:exon30:c.4439+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4439+1G>A;ENST00000582913:exon31:c.4480+1G>A;ENST00000503781:exon30:c.4439+1G>A;ENST00000580640:exon32:c.4514+1G>A;ENST00000383408:exon17:c.2303+1G>A;ENST00000579949:exon3:c.120+1G>A)	.	.	0.999992425382947	0.942
18	10744140	T	A	18	10744142	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.A4439T:p.Q1480L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4514T:p.Q1505L;ENSG00000154864:ENST00000503781:exon29:c.A4439T:p.Q1480L;ENSG00000154864:ENST00000302079:exon29:c.A4439T:p.Q1480L;	0.916364578589137	0.518
18	10744140	T	C	18	10744142	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.A4439G:p.Q1480R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4514G:p.Q1505R;ENSG00000154864:ENST00000503781:exon29:c.A4439G:p.Q1480R;ENSG00000154864:ENST00000302079:exon29:c.A4439G:p.Q1480R;	0.162025754033845	0.174
18	10744140	T	G	18	10744142	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.A4439C:p.Q1480P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4514C:p.Q1505P;ENSG00000154864:ENST00000503781:exon29:c.A4439C:p.Q1480P;ENSG00000154864:ENST00000302079:exon29:c.A4439C:p.Q1480P;	0.593796135224542	0.664
18	10744141	G	A	18	10744143	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon29:c.C4438T:p.Q1480X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon31:c.C4513T:p.Q1505X;ENSG00000154864:ENST00000503781:exon29:c.C4438T:p.Q1480X;ENSG00000154864:ENST00000302079:exon29:c.C4438T:p.Q1480X;	0.99584098695663	0.844
18	10744141	G	C	18	10744143	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.C4438G:p.Q1480E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.C4513G:p.Q1505E;ENSG00000154864:ENST00000503781:exon29:c.C4438G:p.Q1480E;ENSG00000154864:ENST00000302079:exon29:c.C4438G:p.Q1480E;	0.989805444449384	0.712
18	10744141	G	T	18	10744143	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.C4438A:p.Q1480K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.C4513A:p.Q1505K;ENSG00000154864:ENST00000503781:exon29:c.C4438A:p.Q1480K;ENSG00000154864:ENST00000302079:exon29:c.C4438A:p.Q1480K;	0.968879642787748	0.636
18	10744142	T	A	18	10744144	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon29:c.A4437T:p.R1479R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4512T:p.R1504R;ENSG00000154864:ENST00000503781:exon29:c.A4437T:p.R1479R;ENSG00000154864:ENST00000302079:exon29:c.A4437T:p.R1479R;	0.241476690865462	0.408
18	10744142	T	C	18	10744144	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon29:c.A4437G:p.R1479R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4512G:p.R1504R;ENSG00000154864:ENST00000503781:exon29:c.A4437G:p.R1479R;ENSG00000154864:ENST00000302079:exon29:c.A4437G:p.R1479R;	0.00606328007958082	0.12
18	10744142	T	G	18	10744144	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon29:c.A4437C:p.R1479R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4512C:p.R1504R;ENSG00000154864:ENST00000503781:exon29:c.A4437C:p.R1479R;ENSG00000154864:ENST00000302079:exon29:c.A4437C:p.R1479R;	6.28310661220065E-4	0.068
18	10744228	C	A	18	10744230	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon29:c.G4351T:p.G1451X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon31:c.G4426T:p.G1476X;ENSG00000154864:ENST00000503781:exon29:c.G4351T:p.G1451X;ENSG00000154864:ENST00000302079:exon29:c.G4351T:p.G1451X;	0.983090569774748	0.924
18	10744228	C	G	18	10744230	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.G4351C:p.G1451R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.G4426C:p.G1476R;ENSG00000154864:ENST00000503781:exon29:c.G4351C:p.G1451R;ENSG00000154864:ENST00000302079:exon29:c.G4351C:p.G1451R;	0.912356390151429	0.77
18	10744228	C	T	18	10744230	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.G4351A:p.G1451R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.G4426A:p.G1476R;ENSG00000154864:ENST00000503781:exon29:c.G4351A:p.G1451R;ENSG00000154864:ENST00000302079:exon29:c.G4351A:p.G1451R;	0.954123737526302	0.814
18	10744229	T	A	18	10744231	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.A4350T:p.R1450S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4425T:p.R1475S;ENSG00000154864:ENST00000503781:exon29:c.A4350T:p.R1450S;ENSG00000154864:ENST00000302079:exon29:c.A4350T:p.R1450S;	8.99670000633747E-4	0.008
18	10744229	T	C	18	10744231	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon29:c.A4350G:p.R1450R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4425G:p.R1475R;ENSG00000154864:ENST00000503781:exon29:c.A4350G:p.R1450R;ENSG00000154864:ENST00000302079:exon29:c.A4350G:p.R1450R;	4.07637811654339E-5	0.0
18	10744229	T	G	18	10744231	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon29:c.A4350C:p.R1450S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon31:c.A4425C:p.R1475S;ENSG00000154864:ENST00000503781:exon29:c.A4350C:p.R1450S;ENSG00000154864:ENST00000302079:exon29:c.A4350C:p.R1450S;	4.8338520882212E-4	0.014
18	10744230	C	A	18	10744232	y	y	splicing	PIEZO2(NM_022068:exon30:c.4350-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4350-1G>T;ENST00000503781:exon30:c.4350-1G>T;ENST00000580640:exon32:c.4425-1G>T;ENST00000383408:exon17:c.2214-1G>T;ENST00000579949:exon3:c.31-1G>T)	.	.	0.999990361384395	0.938
18	10744230	C	G	18	10744232	y	y	splicing	PIEZO2(NM_022068:exon30:c.4350-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4350-1G>C;ENST00000503781:exon30:c.4350-1G>C;ENST00000580640:exon32:c.4425-1G>C;ENST00000383408:exon17:c.2214-1G>C;ENST00000579949:exon3:c.31-1G>C)	.	.	0.999990361384395	0.938
18	10744230	C	T	18	10744232	y	y	splicing	PIEZO2(NM_022068:exon30:c.4350-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4350-1G>A;ENST00000503781:exon30:c.4350-1G>A;ENST00000580640:exon32:c.4425-1G>A;ENST00000383408:exon17:c.2214-1G>A;ENST00000579949:exon3:c.31-1G>A)	.	.	0.999990361384395	0.938
18	10744231	T	A	18	10744233	y	y	splicing	PIEZO2(NM_022068:exon30:c.4350-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4350-2A>T;ENST00000503781:exon30:c.4350-2A>T;ENST00000580640:exon32:c.4425-2A>T;ENST00000383408:exon17:c.2214-2A>T;ENST00000579949:exon3:c.31-2A>T)	.	.	0.999988247793601	0.932
18	10744231	T	C	18	10744233	y	y	splicing	PIEZO2(NM_022068:exon30:c.4350-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4350-2A>G;ENST00000503781:exon30:c.4350-2A>G;ENST00000580640:exon32:c.4425-2A>G;ENST00000383408:exon17:c.2214-2A>G;ENST00000579949:exon3:c.31-2A>G)	.	.	0.999988247793601	0.932
18	10744231	T	G	18	10744233	y	y	splicing	PIEZO2(NM_022068:exon30:c.4350-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon30:c.4350-2A>C;ENST00000503781:exon30:c.4350-2A>C;ENST00000580640:exon32:c.4425-2A>C;ENST00000383408:exon17:c.2214-2A>C;ENST00000579949:exon3:c.31-2A>C)	.	.	0.999988247793601	0.932
18	10744232	A	C	18	10744234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996678071575529	0.7
18	10744232	A	G	18	10744234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.36950624546991E-5	0.01
18	10744232	A	T	18	10744234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.187315346606934	0.4
18	10744233	A	C	18	10744235	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.73500752263833E-5	0.0
18	10744233	A	G	18	10744235	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.30483809892E-5	0.0
18	10744233	A	T	18	10744235	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.65257969923363E-5	0.01
18	10744234	A	C	18	10744236	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0113081114879964	0.266
18	10744234	A	G	18	10744236	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.12926499872433E-5	0.03
18	10744234	A	T	18	10744236	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00531942288215948	0.238
18	10744235	G	A	18	10744237	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.68519180828147E-5	0.0
18	10744235	G	C	18	10744237	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.5780025818494E-4	0.046
18	10744235	G	T	18	10744237	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.29271499716897E-4	0.03
18	10744236	G	A	18	10744238	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.21276583596773E-5	0.002
18	10744236	G	C	18	10744238	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00106057869334825	0.03
18	10744236	G	T	18	10744238	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00134239700238956	0.088
18	10744237	G	A	18	10744239	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.69498898962713E-5	0.0
18	10744237	G	C	18	10744239	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.02931172038943E-4	0.028
18	10744237	G	T	18	10744239	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.69733244641191E-4	0.004
18	10744238	A	C	18	10744240	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.2092414543446E-4	0.136
18	10744238	A	G	18	10744240	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.57652090036887E-4	0.004
18	10744238	A	T	18	10744240	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.06886519025435E-4	0.078
18	10744239	A	C	18	10744241	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.02192757870365E-4	0.136
18	10744239	A	G	18	10744241	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.16341708509208E-4	0.004
18	10744239	A	T	18	10744241	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00275715771580718	0.106
18	10744240	A	C	18	10744242	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.07735335160778E-4	0.116
18	10744240	A	G	18	10744242	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.41621890626241E-4	0.046
18	10744240	A	T	18	10744242	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00161967750051833	0.142
18	10744241	G	A	18	10744243	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.68017463350333E-5	0.0
18	10744241	G	C	18	10744243	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.815672662070468	0.88
18	10744241	G	T	18	10744243	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.9511184930998E-5	0.004
18	10748457	G	A	18	10748459	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.71037690926497E-5	0.006
18	10748457	G	C	18	10748459	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.71037690926497E-5	0.0
18	10748457	G	T	18	10748459	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.71037690926497E-5	0.0
18	10748458	G	A	18	10748460	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.09349544230799E-4	0.004
18	10748458	G	C	18	10748460	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.7526228276428E-4	0.004
18	10748458	G	T	18	10748460	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.91830781183012E-4	0.004
18	10748459	C	A	18	10748461	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.84430896923724E-5	0.0
18	10748459	C	G	18	10748461	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.84430896923724E-5	0.0
18	10748459	C	T	18	10748461	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.84430896923724E-5	0.0
18	10748460	C	A	18	10748462	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00314886044031351	0.028
18	10748460	C	G	18	10748462	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00294404891201381	0.028
18	10748460	C	T	18	10748462	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00364439415599438	0.03
18	10748461	T	A	18	10748463	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.25467202314132E-5	0.0
18	10748461	T	C	18	10748463	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.47971531540318E-4	0.0
18	10748461	T	G	18	10748463	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.96323034491673E-5	0.0
18	10748462	G	A	18	10748464	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.77404140138335E-4	0.034
18	10748462	G	C	18	10748464	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.5411627950354E-4	0.008
18	10748462	G	T	18	10748464	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.87644636373643E-4	0.004
18	10748463	A	C	18	10748465	y	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon30:c.4395+2T>G)	.	.	0.00832736351808112	0.16
18	10748463	A	G	18	10748465	y	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon30:c.4395+2T>C)	.	.	0.00461413370818639	0.068
18	10748463	A	T	18	10748465	y	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon30:c.4395+2T>A)	.	.	0.0108584114421021	0.15
18	10748464	C	A	18	10748466	y	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon30:c.4395+1G>T)	.	.	0.999843827284995	0.764
18	10748464	C	G	18	10748466	y	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon30:c.4395+1G>C)	.	.	0.999955234804849	0.98
18	10748464	C	T	18	10748466	y	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon30:c.4395+1G>A)	.	.	0.999700673329818	0.848
18	10748465	C	A	18	10748467	y	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.G4395T:p.W1465C;	6.21196553450448E-4	0.084
18	10748465	C	G	18	10748467	y	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.G4395C:p.W1465C;	2.0356224740738E-4	0.052
18	10748465	C	T	18	10748467	y	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000582913:exon29:c.G4395A:p.W1465X;	0.00162225327139499	0.512
18	10748466	C	A	18	10748468	y	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.G4394T:p.W1465L;	0.0060188473263003	0.474
18	10748466	C	G	18	10748468	y	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.G4394C:p.W1465S;	0.00466885184049941	0.402
18	10748466	C	T	18	10748468	y	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000582913:exon29:c.G4394A:p.W1465X;	6.05040368134917E-4	0.496
18	10748467	A	C	18	10748469	y	y	splicing	PIEZO2(NM_022068:exon29:c.4349+2T>G)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon29:c.4349+2T>G;ENST00000503781:exon29:c.4349+2T>G;ENST00000580640:exon31:c.4424+2T>G;ENST00000383408:exon16:c.2213+2T>G;ENST00000579949:exon2:c.30+2T>G)	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.T4393G:p.W1465G;	0.999988247793601	0.926
18	10748467	A	G	18	10748469	y	y	splicing	PIEZO2(NM_022068:exon29:c.4349+2T>C)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon29:c.4349+2T>C;ENST00000503781:exon29:c.4349+2T>C;ENST00000580640:exon31:c.4424+2T>C;ENST00000383408:exon16:c.2213+2T>C;ENST00000579949:exon2:c.30+2T>C)	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.T4393C:p.W1465R;	0.999943260809542	0.87
18	10748467	A	T	18	10748469	y	y	splicing	PIEZO2(NM_022068:exon29:c.4349+2T>A)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon29:c.4349+2T>A;ENST00000503781:exon29:c.4349+2T>A;ENST00000580640:exon31:c.4424+2T>A;ENST00000383408:exon16:c.2213+2T>A;ENST00000579949:exon2:c.30+2T>A)	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.T4393A:p.W1465R;	0.999988247793601	0.926
18	10748468	C	A	18	10748470	y	n	splicing	PIEZO2(NM_022068:exon29:c.4349+1G>T)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon29:c.4349+1G>T;ENST00000503781:exon29:c.4349+1G>T;ENST00000580640:exon31:c.4424+1G>T;ENST00000383408:exon16:c.2213+1G>T;ENST00000579949:exon2:c.30+1G>T)	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.G4392T:p.R1464S;	0.999985532734767	0.936
18	10748468	C	G	18	10748470	y	n	splicing	PIEZO2(NM_022068:exon29:c.4349+1G>C)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon29:c.4349+1G>C;ENST00000503781:exon29:c.4349+1G>C;ENST00000580640:exon31:c.4424+1G>C;ENST00000383408:exon16:c.2213+1G>C;ENST00000579949:exon2:c.30+1G>C)	nonsynonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.G4392C:p.R1464S;	0.999985532734767	0.934
18	10748468	C	T	18	10748470	y	n	splicing	PIEZO2(NM_022068:exon29:c.4349+1G>A)	.	.	exonic;splicing	ENSG00000154864;ENSG00000154864(ENST00000302079:exon29:c.4349+1G>A;ENST00000503781:exon29:c.4349+1G>A;ENST00000580640:exon31:c.4424+1G>A;ENST00000383408:exon16:c.2213+1G>A;ENST00000579949:exon2:c.30+1G>A)	synonymous SNV	ENSG00000154864:ENST00000582913:exon29:c.G4392A:p.R1464R;	0.999985532734767	0.936
18	10748469	C	A	18	10748471	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon28:c.G4349T:p.R1450I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.G4424T:p.R1475I;ENSG00000154864:ENST00000582913:exon29:c.G4391T:p.R1464M;ENSG00000154864:ENST00000503781:exon28:c.G4349T:p.R1450I;ENSG00000154864:ENST00000302079:exon28:c.G4349T:p.R1450I;	0.999965448836792	0.996
18	10748469	C	G	18	10748471	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon28:c.G4349C:p.R1450T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.G4424C:p.R1475T;ENSG00000154864:ENST00000582913:exon29:c.G4391C:p.R1464T;ENSG00000154864:ENST00000503781:exon28:c.G4349C:p.R1450T;ENSG00000154864:ENST00000302079:exon28:c.G4349C:p.R1450T;	0.999989076890811	0.996
18	10748469	C	T	18	10748471	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon28:c.G4349A:p.R1450K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.G4424A:p.R1475K;ENSG00000154864:ENST00000582913:exon29:c.G4391A:p.R1464K;ENSG00000154864:ENST00000503781:exon28:c.G4349A:p.R1450K;ENSG00000154864:ENST00000302079:exon28:c.G4349A:p.R1450K;	0.999972049866929	1.0
18	10748470	T	A	18	10748472	y	n	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon28:c.A4348T:p.R1450X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon30:c.A4423T:p.R1475X;ENSG00000154864:ENST00000503781:exon28:c.A4348T:p.R1450X;ENSG00000154864:ENST00000302079:exon28:c.A4348T:p.R1450X;	0.99980353370834	0.994
18	10748470	T	C	18	10748472	y	n	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon28:c.A4348G:p.R1450G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.A4423G:p.R1475G;ENSG00000154864:ENST00000582913:exon29:c.A4390G:p.R1464G;ENSG00000154864:ENST00000503781:exon28:c.A4348G:p.R1450G;ENSG00000154864:ENST00000302079:exon28:c.A4348G:p.R1450G;	0.994632300998083	0.964
18	10748470	T	G	18	10748472	y	n	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon28:c.A4348C:p.R1450R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.A4423C:p.R1475R;ENSG00000154864:ENST00000582913:exon29:c.A4390C:p.R1464R;ENSG00000154864:ENST00000503781:exon28:c.A4348C:p.R1450R;ENSG00000154864:ENST00000302079:exon28:c.A4348C:p.R1450R;	0.979980017695711	0.924
18	10748471	T	A	18	10748473	y	n	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon28:c.A4347T:p.S1449S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.A4422T:p.S1474S;ENSG00000154864:ENST00000582913:exon29:c.A4389T:p.S1463S;ENSG00000154864:ENST00000503781:exon28:c.A4347T:p.S1449S;ENSG00000154864:ENST00000302079:exon28:c.A4347T:p.S1449S;	0.0046965430483801	0.282
18	10748471	T	C	18	10748473	y	n	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon28:c.A4347G:p.S1449S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.A4422G:p.S1474S;ENSG00000154864:ENST00000582913:exon29:c.A4389G:p.S1463S;ENSG00000154864:ENST00000503781:exon28:c.A4347G:p.S1449S;ENSG00000154864:ENST00000302079:exon28:c.A4347G:p.S1449S;	5.64532981760229E-4	0.016
18	10748471	T	G	18	10748473	y	n	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon28:c.A4347C:p.S1449S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.A4422C:p.S1474S;ENSG00000154864:ENST00000582913:exon29:c.A4389C:p.S1463S;ENSG00000154864:ENST00000503781:exon28:c.A4347C:p.S1449S;ENSG00000154864:ENST00000302079:exon28:c.A4347C:p.S1449S;	1.41108518272152E-4	0.008
18	10748627	A	C	18	10748629	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon28:c.T4191G:p.P1397P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.T4266G:p.P1422P;ENSG00000154864:ENST00000582913:exon29:c.T4233G:p.P1411P;ENSG00000154864:ENST00000503781:exon28:c.T4191G:p.P1397P;ENSG00000154864:ENST00000302079:exon28:c.T4191G:p.P1397P;	0.00100884445087657	0.066
18	10748627	A	G	18	10748629	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon28:c.T4191C:p.P1397P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.T4266C:p.P1422P;ENSG00000154864:ENST00000582913:exon29:c.T4233C:p.P1411P;ENSG00000154864:ENST00000503781:exon28:c.T4191C:p.P1397P;ENSG00000154864:ENST00000302079:exon28:c.T4191C:p.P1397P;	6.35688991207723E-4	0.072
18	10748627	A	T	18	10748629	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon28:c.T4191A:p.P1397P;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.T4266A:p.P1422P;ENSG00000154864:ENST00000582913:exon29:c.T4233A:p.P1411P;ENSG00000154864:ENST00000503781:exon28:c.T4191A:p.P1397P;ENSG00000154864:ENST00000302079:exon28:c.T4191A:p.P1397P;	0.00227786851409923	0.116
18	10748628	G	A	18	10748630	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon28:c.C4190T:p.P1397L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.C4265T:p.P1422L;ENSG00000154864:ENST00000582913:exon29:c.C4232T:p.P1411L;ENSG00000154864:ENST00000503781:exon28:c.C4190T:p.P1397L;ENSG00000154864:ENST00000302079:exon28:c.C4190T:p.P1397L;	0.946466789172142	0.686
18	10748628	G	C	18	10748630	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon28:c.C4190G:p.P1397R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.C4265G:p.P1422R;ENSG00000154864:ENST00000582913:exon29:c.C4232G:p.P1411R;ENSG00000154864:ENST00000503781:exon28:c.C4190G:p.P1397R;ENSG00000154864:ENST00000302079:exon28:c.C4190G:p.P1397R;	0.00604583933188777	0.1
18	10748628	G	T	18	10748630	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon28:c.C4190A:p.P1397H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon30:c.C4265A:p.P1422H;ENSG00000154864:ENST00000582913:exon29:c.C4232A:p.P1411H;ENSG00000154864:ENST00000503781:exon28:c.C4190A:p.P1397H;ENSG00000154864:ENST00000302079:exon28:c.C4190A:p.P1397H;	0.00316441135036375	0.098
18	10748629	C	A	18	10748631	y	y	splicing	PIEZO2(NM_022068:exon29:c.4190-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon29:c.4190-1G>T;ENST00000582913:exon30:c.4232-1G>T;ENST00000503781:exon29:c.4190-1G>T;ENST00000580640:exon31:c.4265-1G>T;ENST00000383408:exon16:c.2054-1G>T)	.	.	0.999951608398927	0.924
18	10748629	C	G	18	10748631	y	y	splicing	PIEZO2(NM_022068:exon29:c.4190-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon29:c.4190-1G>C;ENST00000582913:exon30:c.4232-1G>C;ENST00000503781:exon29:c.4190-1G>C;ENST00000580640:exon31:c.4265-1G>C;ENST00000383408:exon16:c.2054-1G>C)	.	.	0.999951608398927	0.922
18	10748629	C	T	18	10748631	y	y	splicing	PIEZO2(NM_022068:exon29:c.4190-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon29:c.4190-1G>A;ENST00000582913:exon30:c.4232-1G>A;ENST00000503781:exon29:c.4190-1G>A;ENST00000580640:exon31:c.4265-1G>A;ENST00000383408:exon16:c.2054-1G>A)	.	.	0.999973860075989	0.928
18	10748630	T	A	18	10748632	y	y	splicing	PIEZO2(NM_022068:exon29:c.4190-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon29:c.4190-2A>T;ENST00000582913:exon30:c.4232-2A>T;ENST00000503781:exon29:c.4190-2A>T;ENST00000580640:exon31:c.4265-2A>T;ENST00000383408:exon16:c.2054-2A>T)	.	.	0.999957317860884	0.934
18	10748630	T	C	18	10748632	y	y	splicing	PIEZO2(NM_022068:exon29:c.4190-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon29:c.4190-2A>G;ENST00000582913:exon30:c.4232-2A>G;ENST00000503781:exon29:c.4190-2A>G;ENST00000580640:exon31:c.4265-2A>G;ENST00000383408:exon16:c.2054-2A>G)	.	.	0.999957317860884	0.948
18	10748630	T	G	18	10748632	y	y	splicing	PIEZO2(NM_022068:exon29:c.4190-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon29:c.4190-2A>C;ENST00000582913:exon30:c.4232-2A>C;ENST00000503781:exon29:c.4190-2A>C;ENST00000580640:exon31:c.4265-2A>C;ENST00000383408:exon16:c.2054-2A>C)	.	.	0.999957317860884	0.948
18	10748631	A	C	18	10748633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.718471259270674	0.588
18	10748631	A	G	18	10748633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.07270523598802E-4	0.05
18	10748631	A	T	18	10748633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00828483164441193	0.266
18	10748632	T	A	18	10748634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.62986919864689E-4	0.008
18	10748632	T	C	18	10748634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.1254895884273E-4	0.104
18	10748632	T	G	18	10748634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.21050178758079E-5	0.056
18	10748633	A	C	18	10748635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.353923205947193	0.476
18	10748633	A	G	18	10748635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.41816296730763E-4	0.008
18	10748633	A	T	18	10748635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.449607432037739	0.474
18	10748634	G	A	18	10748636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.27765245682574E-5	0.002
18	10748634	G	C	18	10748636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999881784422414	0.966
18	10748634	G	T	18	10748636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00217505935416803	0.268
18	10748635	T	A	18	10748637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.63756184029401E-5	0.006
18	10748635	T	C	18	10748637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.89064303706278E-5	0.0
18	10748635	T	G	18	10748637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.63756184029401E-5	0.006
18	10748636	A	C	18	10748638	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.125801381988444	0.464
18	10748636	A	G	18	10748638	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.58111233602956E-4	0.026
18	10748636	A	T	18	10748638	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0813033973673368	0.35
18	10748637	A	C	18	10748639	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.400601776720758	0.484
18	10748637	A	G	18	10748639	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.56922119897053E-4	0.074
18	10748637	A	T	18	10748639	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0910568070897719	0.462
18	10748638	C	A	18	10748640	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.12278965792014E-5	0.026
18	10748638	C	G	18	10748640	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.12278965792014E-5	0.002
18	10748638	C	T	18	10748640	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.45473102738362E-5	0.018
18	10748639	A	C	18	10748641	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.522449450846453	0.466
18	10748639	A	G	18	10748641	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00162459524805139	0.17
18	10748639	A	T	18	10748641	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999942168897428	0.89
18	10748640	G	A	18	10748642	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.1090815199934E-5	0.002
18	10748640	G	C	18	10748642	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.988798615121361	0.936
18	10748640	G	T	18	10748642	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.89539798392865E-4	0.056
18	10750081	A	C	18	10750083	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.0508842555909E-5	0.008
18	10750081	A	G	18	10750083	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.30819145506541E-4	0.008
18	10750081	A	T	18	10750083	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.36700160382024E-5	0.0
18	10750082	T	A	18	10750084	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.75743421291909E-4	0.008
18	10750082	T	C	18	10750084	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.34871356787989E-4	0.004
18	10750082	T	G	18	10750084	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.049171651289E-4	0.004
18	10750083	A	C	18	10750085	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996315865981173	0.882
18	10750083	A	G	18	10750085	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.984558523762325	0.886
18	10750083	A	T	18	10750085	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.994912482116063	0.76
18	10750084	C	A	18	10750086	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999962931680751	0.918
18	10750084	C	G	18	10750086	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999961822089546	0.992
18	10750084	C	T	18	10750086	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99994678396364	0.998
18	10750085	T	A	18	10750087	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999694927424245	0.904
18	10750085	T	C	18	10750087	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998554308095704	0.98
18	10750085	T	G	18	10750087	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999697326976937	0.902
18	10750086	T	A	18	10750088	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999803904156885	0.814
18	10750086	T	C	18	10750088	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0189286060693908	0.292
18	10750086	T	G	18	10750088	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999622001146914	0.846
18	10750087	A	C	18	10750089	y	y	splicing	PIEZO2(NM_022068:exon28:c.4189+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4189+2T>G;ENST00000582913:exon29:c.4231+2T>G;ENST00000503781:exon28:c.4189+2T>G;ENST00000580640:exon30:c.4264+2T>G;ENST00000383408:exon15:c.2053+2T>G)	.	.	0.999988247793601	0.928
18	10750087	A	G	18	10750089	y	y	splicing	PIEZO2(NM_022068:exon28:c.4189+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4189+2T>C;ENST00000582913:exon29:c.4231+2T>C;ENST00000503781:exon28:c.4189+2T>C;ENST00000580640:exon30:c.4264+2T>C;ENST00000383408:exon15:c.2053+2T>C)	.	.	0.99340600729494	0.634
18	10750087	A	T	18	10750089	y	y	splicing	PIEZO2(NM_022068:exon28:c.4189+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4189+2T>A;ENST00000582913:exon29:c.4231+2T>A;ENST00000503781:exon28:c.4189+2T>A;ENST00000580640:exon30:c.4264+2T>A;ENST00000383408:exon15:c.2053+2T>A)	.	.	0.999988247793601	0.928
18	10750088	C	A	18	10750090	y	y	splicing	PIEZO2(NM_022068:exon28:c.4189+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4189+1G>T;ENST00000582913:exon29:c.4231+1G>T;ENST00000503781:exon28:c.4189+1G>T;ENST00000580640:exon30:c.4264+1G>T;ENST00000383408:exon15:c.2053+1G>T)	.	.	0.999985532734767	0.936
18	10750088	C	G	18	10750090	y	y	splicing	PIEZO2(NM_022068:exon28:c.4189+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4189+1G>C;ENST00000582913:exon29:c.4231+1G>C;ENST00000503781:exon28:c.4189+1G>C;ENST00000580640:exon30:c.4264+1G>C;ENST00000383408:exon15:c.2053+1G>C)	.	.	0.999985532734767	0.936
18	10750088	C	T	18	10750090	y	y	splicing	PIEZO2(NM_022068:exon28:c.4189+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4189+1G>A;ENST00000582913:exon29:c.4231+1G>A;ENST00000503781:exon28:c.4189+1G>A;ENST00000580640:exon30:c.4264+1G>A;ENST00000383408:exon15:c.2053+1G>A)	.	.	0.999985532734767	0.936
18	10750089	G	A	18	10750091	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.C4189T:p.P1397S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.C4264T:p.P1422S;ENSG00000154864:ENST00000582913:exon28:c.C4231T:p.P1411S;ENSG00000154864:ENST00000503781:exon27:c.C4189T:p.P1397S;ENSG00000154864:ENST00000302079:exon27:c.C4189T:p.P1397S;	0.728020911063362	0.374
18	10750089	G	C	18	10750091	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.C4189G:p.P1397A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.C4264G:p.P1422A;ENSG00000154864:ENST00000582913:exon28:c.C4231G:p.P1411A;ENSG00000154864:ENST00000503781:exon27:c.C4189G:p.P1397A;ENSG00000154864:ENST00000302079:exon27:c.C4189G:p.P1397A;	0.00268962167612502	0.098
18	10750089	G	T	18	10750091	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.C4189A:p.P1397T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.C4264A:p.P1422T;ENSG00000154864:ENST00000582913:exon28:c.C4231A:p.P1411T;ENSG00000154864:ENST00000503781:exon27:c.C4189A:p.P1397T;ENSG00000154864:ENST00000302079:exon27:c.C4189A:p.P1397T;	0.0169559821224237	0.1
18	10750090	C	A	18	10750092	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.G4188T:p.M1396I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.G4263T:p.M1421I;ENSG00000154864:ENST00000582913:exon28:c.G4230T:p.M1410I;ENSG00000154864:ENST00000503781:exon27:c.G4188T:p.M1396I;ENSG00000154864:ENST00000302079:exon27:c.G4188T:p.M1396I;	0.0298133893313932	0.098
18	10750090	C	G	18	10750092	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.G4188C:p.M1396I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.G4263C:p.M1421I;ENSG00000154864:ENST00000582913:exon28:c.G4230C:p.M1410I;ENSG00000154864:ENST00000503781:exon27:c.G4188C:p.M1396I;ENSG00000154864:ENST00000302079:exon27:c.G4188C:p.M1396I;	0.0144783114020651	0.09
18	10750090	C	T	18	10750092	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.G4188A:p.M1396I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.G4263A:p.M1421I;ENSG00000154864:ENST00000582913:exon28:c.G4230A:p.M1410I;ENSG00000154864:ENST00000503781:exon27:c.G4188A:p.M1396I;ENSG00000154864:ENST00000302079:exon27:c.G4188A:p.M1396I;	0.00477274718722615	0.064
18	10750091	A	C	18	10750093	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.T4187G:p.M1396R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.T4262G:p.M1421R;ENSG00000154864:ENST00000582913:exon28:c.T4229G:p.M1410R;ENSG00000154864:ENST00000503781:exon27:c.T4187G:p.M1396R;ENSG00000154864:ENST00000302079:exon27:c.T4187G:p.M1396R;	0.00173820368676777	0.024
18	10750091	A	G	18	10750093	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.T4187C:p.M1396T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.T4262C:p.M1421T;ENSG00000154864:ENST00000582913:exon28:c.T4229C:p.M1410T;ENSG00000154864:ENST00000503781:exon27:c.T4187C:p.M1396T;ENSG00000154864:ENST00000302079:exon27:c.T4187C:p.M1396T;	7.83863508695183E-4	0.012
18	10750091	A	T	18	10750093	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.T4187A:p.M1396K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.T4262A:p.M1421K;ENSG00000154864:ENST00000582913:exon28:c.T4229A:p.M1410K;ENSG00000154864:ENST00000503781:exon27:c.T4187A:p.M1396K;ENSG00000154864:ENST00000302079:exon27:c.T4187A:p.M1396K;	0.00203048286895659	0.01
18	10750184	A	C	18	10750186	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.T4094G:p.I1365R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.T4169G:p.I1390R;ENSG00000154864:ENST00000582913:exon28:c.T4136G:p.I1379R;ENSG00000154864:ENST00000503781:exon27:c.T4094G:p.I1365R;ENSG00000154864:ENST00000302079:exon27:c.T4094G:p.I1365R;	0.0980014672361371	0.364
18	10750184	A	G	18	10750186	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.T4094C:p.I1365T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.T4169C:p.I1390T;ENSG00000154864:ENST00000582913:exon28:c.T4136C:p.I1379T;ENSG00000154864:ENST00000503781:exon27:c.T4094C:p.I1365T;ENSG00000154864:ENST00000302079:exon27:c.T4094C:p.I1365T;	0.150867397160962	0.346
18	10750184	A	T	18	10750186	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.T4094A:p.I1365K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.T4169A:p.I1390K;ENSG00000154864:ENST00000582913:exon28:c.T4136A:p.I1379K;ENSG00000154864:ENST00000503781:exon27:c.T4094A:p.I1365K;ENSG00000154864:ENST00000302079:exon27:c.T4094A:p.I1365K;	0.551332981986211	0.436
18	10750185	T	A	18	10750187	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.A4093T:p.I1365L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.A4168T:p.I1390L;ENSG00000154864:ENST00000582913:exon28:c.A4135T:p.I1379L;ENSG00000154864:ENST00000503781:exon27:c.A4093T:p.I1365L;ENSG00000154864:ENST00000302079:exon27:c.A4093T:p.I1365L;	0.682373238294197	0.546
18	10750185	T	C	18	10750187	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.A4093G:p.I1365V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.A4168G:p.I1390V;ENSG00000154864:ENST00000582913:exon28:c.A4135G:p.I1379V;ENSG00000154864:ENST00000503781:exon27:c.A4093G:p.I1365V;ENSG00000154864:ENST00000302079:exon27:c.A4093G:p.I1365V;	0.00357505450694128	0.068
18	10750185	T	G	18	10750187	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon27:c.A4093C:p.I1365L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon29:c.A4168C:p.I1390L;ENSG00000154864:ENST00000582913:exon28:c.A4135C:p.I1379L;ENSG00000154864:ENST00000503781:exon27:c.A4093C:p.I1365L;ENSG00000154864:ENST00000302079:exon27:c.A4093C:p.I1365L;	0.421662891057875	0.542
18	10750186	C	A	18	10750188	y	y	splicing	PIEZO2(NM_022068:exon28:c.4093-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4093-1G>T;ENST00000582913:exon29:c.4135-1G>T;ENST00000503781:exon28:c.4093-1G>T;ENST00000580640:exon30:c.4168-1G>T;ENST00000383408:exon15:c.1957-1G>T)	.	.	0.999990361384395	0.938
18	10750186	C	G	18	10750188	y	y	splicing	PIEZO2(NM_022068:exon28:c.4093-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4093-1G>C;ENST00000582913:exon29:c.4135-1G>C;ENST00000503781:exon28:c.4093-1G>C;ENST00000580640:exon30:c.4168-1G>C;ENST00000383408:exon15:c.1957-1G>C)	.	.	0.999990361384395	0.938
18	10750186	C	T	18	10750188	y	y	splicing	PIEZO2(NM_022068:exon28:c.4093-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4093-1G>A;ENST00000582913:exon29:c.4135-1G>A;ENST00000503781:exon28:c.4093-1G>A;ENST00000580640:exon30:c.4168-1G>A;ENST00000383408:exon15:c.1957-1G>A)	.	.	0.999990361384395	0.938
18	10750187	T	A	18	10750189	y	y	splicing	PIEZO2(NM_022068:exon28:c.4093-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4093-2A>T;ENST00000582913:exon29:c.4135-2A>T;ENST00000503781:exon28:c.4093-2A>T;ENST00000580640:exon30:c.4168-2A>T;ENST00000383408:exon15:c.1957-2A>T)	.	.	0.999988247793601	0.932
18	10750187	T	C	18	10750189	y	y	splicing	PIEZO2(NM_022068:exon28:c.4093-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4093-2A>G;ENST00000582913:exon29:c.4135-2A>G;ENST00000503781:exon28:c.4093-2A>G;ENST00000580640:exon30:c.4168-2A>G;ENST00000383408:exon15:c.1957-2A>G)	.	.	0.999988247793601	0.932
18	10750187	T	G	18	10750189	y	y	splicing	PIEZO2(NM_022068:exon28:c.4093-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon28:c.4093-2A>C;ENST00000582913:exon29:c.4135-2A>C;ENST00000503781:exon28:c.4093-2A>C;ENST00000580640:exon30:c.4168-2A>C;ENST00000383408:exon15:c.1957-2A>C)	.	.	0.999988247793601	0.932
18	10750188	G	A	18	10750190	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.988629633256927	0.342
18	10750188	G	C	18	10750190	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999934576926753	0.93
18	10750188	G	T	18	10750190	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997791107654704	0.706
18	10750189	A	C	18	10750191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.17941722260432E-4	0.012
18	10750189	A	G	18	10750191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.02395953420107E-4	0.008
18	10750189	A	T	18	10750191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.52484429970503E-4	0.018
18	10750190	A	C	18	10750192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.225058124794642	0.518
18	10750190	A	G	18	10750192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0810613137098265	0.188
18	10750190	A	T	18	10750192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.128501992671289	0.516
18	10750191	A	C	18	10750193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0188522492647914	0.288
18	10750191	A	G	18	10750193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00431225923986782	0.11
18	10750191	A	T	18	10750193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0349398419988926	0.288
18	10750192	A	C	18	10750194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.96415953013448E-4	0.068
18	10750192	A	G	18	10750194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.46749911252828E-4	0.08
18	10750192	A	T	18	10750194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.23427113097388E-4	0.074
18	10750193	A	C	18	10750195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.01990273422574E-4	0.038
18	10750193	A	G	18	10750195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.62702634238878E-4	0.006
18	10750193	A	T	18	10750195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.12932224169012E-4	0.058
18	10750194	C	A	18	10750196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0012836000494455	0.03
18	10750194	C	G	18	10750196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.81953714840981E-4	0.012
18	10750194	C	T	18	10750196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00661562738933158	0.082
18	10750195	A	C	18	10750197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.396762408043266	0.604
18	10750195	A	G	18	10750197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.246003948598514	0.462
18	10750195	A	T	18	10750197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999741218149197	0.89
18	10750196	A	C	18	10750198	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00276421464153809	0.148
18	10750196	A	G	18	10750198	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00459050751837896	0.05
18	10750196	A	T	18	10750198	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00287375407384122	0.184
18	10750197	A	C	18	10750199	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00268141314061709	0.152
18	10750197	A	G	18	10750199	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00135360962587032	0.032
18	10750197	A	T	18	10750199	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00254374479262132	0.186
18	10752626	C	A	18	10752628	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.1624108508069E-4	0.004
18	10752626	C	G	18	10752628	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.1624108508069E-4	0.004
18	10752626	C	T	18	10752628	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.78260468176736E-4	0.004
18	10752627	C	A	18	10752629	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.48209029762732E-4	0.004
18	10752627	C	G	18	10752629	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.48209029762732E-4	0.012
18	10752627	C	T	18	10752629	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.42466752645088E-4	0.008
18	10752628	A	C	18	10752630	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99320622225033	0.894
18	10752628	A	G	18	10752630	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993053933042909	0.924
18	10752628	A	T	18	10752630	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995768977474915	0.804
18	10752629	C	A	18	10752631	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999939980594152	0.998
18	10752629	C	G	18	10752631	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999957338180753	0.994
18	10752629	C	T	18	10752631	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999956941176677	1.0
18	10752630	T	A	18	10752632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99905536038346	0.908
18	10752630	T	C	18	10752632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997508721648483	0.924
18	10752630	T	G	18	10752632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999514685149125	0.922
18	10752631	T	A	18	10752633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999851460663615	0.966
18	10752631	T	C	18	10752633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.848950677398637	0.496
18	10752631	T	G	18	10752633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999842888391713	0.956
18	10752632	A	C	18	10752634	y	y	splicing	PIEZO2(NM_022068:exon27:c.4092+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.4092+2T>G;ENST00000582913:exon28:c.4134+2T>G;ENST00000503781:exon27:c.4092+2T>G;ENST00000580640:exon29:c.4167+2T>G;ENST00000383408:exon14:c.1956+2T>G)	.	.	0.999989917668626	0.928
18	10752632	A	G	18	10752634	y	y	splicing	PIEZO2(NM_022068:exon27:c.4092+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.4092+2T>C;ENST00000582913:exon28:c.4134+2T>C;ENST00000503781:exon27:c.4092+2T>C;ENST00000580640:exon29:c.4167+2T>C;ENST00000383408:exon14:c.1956+2T>C)	.	.	0.998951554644202	0.84
18	10752632	A	T	18	10752634	y	y	splicing	PIEZO2(NM_022068:exon27:c.4092+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.4092+2T>A;ENST00000582913:exon28:c.4134+2T>A;ENST00000503781:exon27:c.4092+2T>A;ENST00000580640:exon29:c.4167+2T>A;ENST00000383408:exon14:c.1956+2T>A)	.	.	0.999989917668626	0.928
18	10752633	C	A	18	10752635	y	y	splicing	PIEZO2(NM_022068:exon27:c.4092+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.4092+1G>T;ENST00000582913:exon28:c.4134+1G>T;ENST00000503781:exon27:c.4092+1G>T;ENST00000580640:exon29:c.4167+1G>T;ENST00000383408:exon14:c.1956+1G>T)	.	.	0.999981760802075	0.932
18	10752633	C	G	18	10752635	y	y	splicing	PIEZO2(NM_022068:exon27:c.4092+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.4092+1G>C;ENST00000582913:exon28:c.4134+1G>C;ENST00000503781:exon27:c.4092+1G>C;ENST00000580640:exon29:c.4167+1G>C;ENST00000383408:exon14:c.1956+1G>C)	.	.	0.999981760802075	0.932
18	10752633	C	T	18	10752635	y	y	splicing	PIEZO2(NM_022068:exon27:c.4092+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.4092+1G>A;ENST00000582913:exon28:c.4134+1G>A;ENST00000503781:exon27:c.4092+1G>A;ENST00000580640:exon29:c.4167+1G>A;ENST00000383408:exon14:c.1956+1G>A)	.	.	0.999981760802075	0.932
18	10752634	T	A	18	10752636	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon26:c.A4092T:p.S1364S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.A4167T:p.S1389S;ENSG00000154864:ENST00000582913:exon27:c.A4134T:p.S1378S;ENSG00000154864:ENST00000503781:exon26:c.A4092T:p.S1364S;ENSG00000154864:ENST00000302079:exon26:c.A4092T:p.S1364S;	3.18683819037725E-4	0.064
18	10752634	T	C	18	10752636	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon26:c.A4092G:p.S1364S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.A4167G:p.S1389S;ENSG00000154864:ENST00000582913:exon27:c.A4134G:p.S1378S;ENSG00000154864:ENST00000503781:exon26:c.A4092G:p.S1364S;ENSG00000154864:ENST00000302079:exon26:c.A4092G:p.S1364S;	1.15563604136729E-4	0.042
18	10752634	T	G	18	10752636	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon26:c.A4092C:p.S1364S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.A4167C:p.S1389S;ENSG00000154864:ENST00000582913:exon27:c.A4134C:p.S1378S;ENSG00000154864:ENST00000503781:exon26:c.A4092C:p.S1364S;ENSG00000154864:ENST00000302079:exon26:c.A4092C:p.S1364S;	2.7830107594296E-4	0.034
18	10752635	G	A	18	10752637	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.C4091T:p.S1364L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.C4166T:p.S1389L;ENSG00000154864:ENST00000582913:exon27:c.C4133T:p.S1378L;ENSG00000154864:ENST00000503781:exon26:c.C4091T:p.S1364L;ENSG00000154864:ENST00000302079:exon26:c.C4091T:p.S1364L;	0.96248481311234	0.708
18	10752635	G	C	18	10752637	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon26:c.C4091G:p.S1364X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon28:c.C4166G:p.S1389X;ENSG00000154864:ENST00000582913:exon27:c.C4133G:p.S1378X;ENSG00000154864:ENST00000503781:exon26:c.C4091G:p.S1364X;ENSG00000154864:ENST00000302079:exon26:c.C4091G:p.S1364X;	0.954514041545258	0.862
18	10752635	G	T	18	10752637	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon26:c.C4091A:p.S1364X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon28:c.C4166A:p.S1389X;ENSG00000154864:ENST00000582913:exon27:c.C4133A:p.S1378X;ENSG00000154864:ENST00000503781:exon26:c.C4091A:p.S1364X;ENSG00000154864:ENST00000302079:exon26:c.C4091A:p.S1364X;	0.893947212434815	0.746
18	10752636	A	C	18	10752638	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.T4090G:p.S1364A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.T4165G:p.S1389A;ENSG00000154864:ENST00000582913:exon27:c.T4132G:p.S1378A;ENSG00000154864:ENST00000503781:exon26:c.T4090G:p.S1364A;ENSG00000154864:ENST00000302079:exon26:c.T4090G:p.S1364A;	0.0362564930270363	0.302
18	10752636	A	G	18	10752638	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.T4090C:p.S1364P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.T4165C:p.S1389P;ENSG00000154864:ENST00000582913:exon27:c.T4132C:p.S1378P;ENSG00000154864:ENST00000503781:exon26:c.T4090C:p.S1364P;ENSG00000154864:ENST00000302079:exon26:c.T4090C:p.S1364P;	0.0244682998646303	0.26
18	10752636	A	T	18	10752638	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.T4090A:p.S1364T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.T4165A:p.S1389T;ENSG00000154864:ENST00000582913:exon27:c.T4132A:p.S1378T;ENSG00000154864:ENST00000503781:exon26:c.T4090A:p.S1364T;ENSG00000154864:ENST00000302079:exon26:c.T4090A:p.S1364T;	0.0229374886996067	0.318
18	10752876	A	C	18	10752878	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.T3850G:p.S1284A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.T3925G:p.S1309A;ENSG00000154864:ENST00000582913:exon27:c.T3892G:p.S1298A;ENSG00000154864:ENST00000503781:exon26:c.T3850G:p.S1284A;ENSG00000154864:ENST00000302079:exon26:c.T3850G:p.S1284A;	0.0189142002861765	0.164
18	10752876	A	G	18	10752878	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.T3850C:p.S1284P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.T3925C:p.S1309P;ENSG00000154864:ENST00000582913:exon27:c.T3892C:p.S1298P;ENSG00000154864:ENST00000503781:exon26:c.T3850C:p.S1284P;ENSG00000154864:ENST00000302079:exon26:c.T3850C:p.S1284P;	0.0214246457349198	0.194
18	10752876	A	T	18	10752878	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.T3850A:p.S1284T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.T3925A:p.S1309T;ENSG00000154864:ENST00000582913:exon27:c.T3892A:p.S1298T;ENSG00000154864:ENST00000503781:exon26:c.T3850A:p.S1284T;ENSG00000154864:ENST00000302079:exon26:c.T3850A:p.S1284T;	0.138932468626217	0.246
18	10752877	T	A	18	10752879	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.A3849T:p.R1283S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.A3924T:p.R1308S;ENSG00000154864:ENST00000582913:exon27:c.A3891T:p.R1297S;ENSG00000154864:ENST00000503781:exon26:c.A3849T:p.R1283S;ENSG00000154864:ENST00000302079:exon26:c.A3849T:p.R1283S;	0.00133562106552902	0.164
18	10752877	T	C	18	10752879	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon26:c.A3849G:p.R1283R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.A3924G:p.R1308R;ENSG00000154864:ENST00000582913:exon27:c.A3891G:p.R1297R;ENSG00000154864:ENST00000503781:exon26:c.A3849G:p.R1283R;ENSG00000154864:ENST00000302079:exon26:c.A3849G:p.R1283R;	6.92290538339901E-5	0.034
18	10752877	T	G	18	10752879	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon26:c.A3849C:p.R1283S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon28:c.A3924C:p.R1308S;ENSG00000154864:ENST00000582913:exon27:c.A3891C:p.R1297S;ENSG00000154864:ENST00000503781:exon26:c.A3849C:p.R1283S;ENSG00000154864:ENST00000302079:exon26:c.A3849C:p.R1283S;	0.00125758034488984	0.156
18	10752878	C	A	18	10752880	y	y	splicing	PIEZO2(NM_022068:exon27:c.3849-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.3849-1G>T;ENST00000582913:exon28:c.3891-1G>T;ENST00000503781:exon27:c.3849-1G>T;ENST00000580640:exon29:c.3924-1G>T;ENST00000383408:exon14:c.1713-1G>T)	.	.	0.999981760802075	0.95
18	10752878	C	G	18	10752880	y	y	splicing	PIEZO2(NM_022068:exon27:c.3849-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.3849-1G>C;ENST00000582913:exon28:c.3891-1G>C;ENST00000503781:exon27:c.3849-1G>C;ENST00000580640:exon29:c.3924-1G>C;ENST00000383408:exon14:c.1713-1G>C)	.	.	0.999981760802075	0.95
18	10752878	C	T	18	10752880	y	y	splicing	PIEZO2(NM_022068:exon27:c.3849-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.3849-1G>A;ENST00000582913:exon28:c.3891-1G>A;ENST00000503781:exon27:c.3849-1G>A;ENST00000580640:exon29:c.3924-1G>A;ENST00000383408:exon14:c.1713-1G>A)	.	.	0.999981760802075	0.95
18	10752879	T	A	18	10752881	y	y	splicing	PIEZO2(NM_022068:exon27:c.3849-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.3849-2A>T;ENST00000582913:exon28:c.3891-2A>T;ENST00000503781:exon27:c.3849-2A>T;ENST00000580640:exon29:c.3924-2A>T;ENST00000383408:exon14:c.1713-2A>T)	.	.	0.999989917668626	0.948
18	10752879	T	C	18	10752881	y	y	splicing	PIEZO2(NM_022068:exon27:c.3849-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.3849-2A>G;ENST00000582913:exon28:c.3891-2A>G;ENST00000503781:exon27:c.3849-2A>G;ENST00000580640:exon29:c.3924-2A>G;ENST00000383408:exon14:c.1713-2A>G)	.	.	0.999989917668626	0.948
18	10752879	T	G	18	10752881	y	y	splicing	PIEZO2(NM_022068:exon27:c.3849-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon27:c.3849-2A>C;ENST00000582913:exon28:c.3891-2A>C;ENST00000503781:exon27:c.3849-2A>C;ENST00000580640:exon29:c.3924-2A>C;ENST00000383408:exon14:c.1713-2A>C)	.	.	0.999989917668626	0.948
18	10752880	G	A	18	10752882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.27614295955415E-4	0.042
18	10752880	G	C	18	10752882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999784362114792	0.968
18	10752880	G	T	18	10752882	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.379180825886882	0.504
18	10752881	G	A	18	10752883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.79419156558585E-5	0.002
18	10752881	G	C	18	10752883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.51762312743459E-5	0.0
18	10752881	G	T	18	10752883	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.79419156558585E-5	0.002
18	10752882	A	C	18	10752884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0260688285058204	0.456
18	10752882	A	G	18	10752884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.40300250860468E-4	0.118
18	10752882	A	T	18	10752884	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0527120774123116	0.456
18	10752883	A	C	18	10752885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.781791701787298	0.534
18	10752883	A	G	18	10752885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.7007199734604E-4	0.086
18	10752883	A	T	18	10752885	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.370916906317002	0.452
18	10752884	A	C	18	10752886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00770419128702638	0.14
18	10752884	A	G	18	10752886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.2226545557874E-5	0.0
18	10752884	A	T	18	10752886	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0260608878756465	0.162
18	10752885	A	C	18	10752887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.75562876923676E-4	0.04
18	10752885	A	G	18	10752887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.46552185139523E-5	0.0
18	10752885	A	T	18	10752887	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00117337597986468	0.042
18	10752886	C	A	18	10752888	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.54355613470152E-5	0.002
18	10752886	C	G	18	10752888	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.28443265238595E-4	0.0
18	10752886	C	T	18	10752888	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.55098144129718E-5	0.004
18	10752887	A	C	18	10752889	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0423878603747838	0.492
18	10752887	A	G	18	10752889	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.44911777032277E-4	0.07
18	10752887	A	T	18	10752889	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999835384326323	0.966
18	10752888	A	C	18	10752890	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0108706159852022	0.294
18	10752888	A	G	18	10752890	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.70946345723903E-4	0.11
18	10752888	A	T	18	10752890	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00940247273011486	0.262
18	10752889	A	C	18	10752891	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0112196591147648	0.314
18	10752889	A	G	18	10752891	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.46558486974905E-4	0.072
18	10752889	A	T	18	10752891	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0277540318484259	0.308
18	10757959	C	A	18	10757961	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.3519283322177E-6	0.0
18	10757959	C	G	18	10757961	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.3519283322177E-6	0.0
18	10757959	C	T	18	10757961	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.3519283322177E-6	0.0
18	10757960	T	A	18	10757962	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.61447691271874E-5	0.0
18	10757960	T	C	18	10757962	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.28631177470022E-5	0.0
18	10757960	T	G	18	10757962	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.54389319431926E-5	0.0
18	10757961	T	A	18	10757963	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.4362614662481E-5	0.0
18	10757961	T	C	18	10757963	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.68169111983183E-6	0.0
18	10757961	T	G	18	10757963	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.17664722768754E-5	0.02
18	10757962	G	A	18	10757964	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.3841528520446E-4	0.004
18	10757962	G	C	18	10757964	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.16257037913741E-4	0.058
18	10757962	G	T	18	10757964	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.61184812291642E-5	0.024
18	10757963	T	A	18	10757965	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.681546650066821	0.444
18	10757963	T	C	18	10757965	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.650602101159161	0.514
18	10757963	T	G	18	10757965	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.400210224112406	0.358
18	10757964	T	A	18	10757966	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999685899501474	0.828
18	10757964	T	C	18	10757966	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.786990134652562	0.688
18	10757964	T	G	18	10757966	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998800830002524	0.882
18	10757965	A	C	18	10757967	y	y	splicing	PIEZO2(NM_022068:exon26:c.3848+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3848+2T>G;ENST00000582913:exon27:c.3890+2T>G;ENST00000503781:exon26:c.3848+2T>G;ENST00000580640:exon28:c.3923+2T>G;ENST00000383408:exon13:c.1712+2T>G)	.	.	0.999989917668626	0.928
18	10757965	A	G	18	10757967	y	y	splicing	PIEZO2(NM_022068:exon26:c.3848+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3848+2T>C;ENST00000582913:exon27:c.3890+2T>C;ENST00000503781:exon26:c.3848+2T>C;ENST00000580640:exon28:c.3923+2T>C;ENST00000383408:exon13:c.1712+2T>C)	.	.	0.994485838132979	0.638
18	10757965	A	T	18	10757967	y	y	splicing	PIEZO2(NM_022068:exon26:c.3848+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3848+2T>A;ENST00000582913:exon27:c.3890+2T>A;ENST00000503781:exon26:c.3848+2T>A;ENST00000580640:exon28:c.3923+2T>A;ENST00000383408:exon13:c.1712+2T>A)	.	.	0.999989917668626	0.928
18	10757966	C	A	18	10757968	y	y	splicing	PIEZO2(NM_022068:exon26:c.3848+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3848+1G>T;ENST00000582913:exon27:c.3890+1G>T;ENST00000503781:exon26:c.3848+1G>T;ENST00000580640:exon28:c.3923+1G>T;ENST00000383408:exon13:c.1712+1G>T)	.	.	0.999981760802075	0.94
18	10757966	C	G	18	10757968	y	y	splicing	PIEZO2(NM_022068:exon26:c.3848+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3848+1G>C;ENST00000582913:exon27:c.3890+1G>C;ENST00000503781:exon26:c.3848+1G>C;ENST00000580640:exon28:c.3923+1G>C;ENST00000383408:exon13:c.1712+1G>C)	.	.	0.999981760802075	0.94
18	10757966	C	T	18	10757968	y	y	splicing	PIEZO2(NM_022068:exon26:c.3848+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3848+1G>A;ENST00000582913:exon27:c.3890+1G>A;ENST00000503781:exon26:c.3848+1G>A;ENST00000580640:exon28:c.3923+1G>A;ENST00000383408:exon13:c.1712+1G>A)	.	.	0.999981760802075	0.94
18	10757967	C	A	18	10757969	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon25:c.G3848T:p.R1283I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.G3923T:p.R1308I;ENSG00000154864:ENST00000582913:exon26:c.G3890T:p.R1297I;ENSG00000154864:ENST00000503781:exon25:c.G3848T:p.R1283I;ENSG00000154864:ENST00000302079:exon25:c.G3848T:p.R1283I;	0.999981238598402	0.998
18	10757967	C	G	18	10757969	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon25:c.G3848C:p.R1283T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.G3923C:p.R1308T;ENSG00000154864:ENST00000582913:exon26:c.G3890C:p.R1297T;ENSG00000154864:ENST00000503781:exon25:c.G3848C:p.R1283T;ENSG00000154864:ENST00000302079:exon25:c.G3848C:p.R1283T;	0.999968819140123	0.998
18	10757967	C	T	18	10757969	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon25:c.G3848A:p.R1283K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.G3923A:p.R1308K;ENSG00000154864:ENST00000582913:exon26:c.G3890A:p.R1297K;ENSG00000154864:ENST00000503781:exon25:c.G3848A:p.R1283K;ENSG00000154864:ENST00000302079:exon25:c.G3848A:p.R1283K;	0.999993454466421	0.99
18	10757968	T	A	18	10757970	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon25:c.A3847T:p.R1283X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon27:c.A3922T:p.R1308X;ENSG00000154864:ENST00000582913:exon26:c.A3889T:p.R1297X;ENSG00000154864:ENST00000503781:exon25:c.A3847T:p.R1283X;ENSG00000154864:ENST00000302079:exon25:c.A3847T:p.R1283X;	0.99991090205836	1.0
18	10757968	T	C	18	10757970	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon25:c.A3847G:p.R1283G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.A3922G:p.R1308G;ENSG00000154864:ENST00000582913:exon26:c.A3889G:p.R1297G;ENSG00000154864:ENST00000503781:exon25:c.A3847G:p.R1283G;ENSG00000154864:ENST00000302079:exon25:c.A3847G:p.R1283G;	0.995023543332451	0.748
18	10757968	T	G	18	10757970	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon25:c.A3847C:p.R1283R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.A3922C:p.R1308R;ENSG00000154864:ENST00000582913:exon26:c.A3889C:p.R1297R;ENSG00000154864:ENST00000503781:exon25:c.A3847C:p.R1283R;ENSG00000154864:ENST00000302079:exon25:c.A3847C:p.R1283R;	0.998704670527707	0.96
18	10757969	G	A	18	10757971	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon25:c.C3846T:p.C1282C;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.C3921T:p.C1307C;ENSG00000154864:ENST00000582913:exon26:c.C3888T:p.C1296C;ENSG00000154864:ENST00000503781:exon25:c.C3846T:p.C1282C;ENSG00000154864:ENST00000302079:exon25:c.C3846T:p.C1282C;	0.993418968029322	0.882
18	10757969	G	C	18	10757971	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon25:c.C3846G:p.C1282W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.C3921G:p.C1307W;ENSG00000154864:ENST00000582913:exon26:c.C3888G:p.C1296W;ENSG00000154864:ENST00000503781:exon25:c.C3846G:p.C1282W;ENSG00000154864:ENST00000302079:exon25:c.C3846G:p.C1282W;	0.0413796213967454	0.286
18	10757969	G	T	18	10757971	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon25:c.C3846A:p.C1282X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon27:c.C3921A:p.C1307X;ENSG00000154864:ENST00000582913:exon26:c.C3888A:p.C1296X;ENSG00000154864:ENST00000503781:exon25:c.C3846A:p.C1282X;ENSG00000154864:ENST00000302079:exon25:c.C3846A:p.C1282X;	0.960316121888922	0.84
18	10758131	A	C	18	10758133	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon25:c.T3684G:p.Y1228X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon27:c.T3759G:p.Y1253X;ENSG00000154864:ENST00000582913:exon26:c.T3726G:p.Y1242X;ENSG00000154864:ENST00000503781:exon25:c.T3684G:p.Y1228X;ENSG00000154864:ENST00000383408:exon12:c.T1548G:p.Y516X;ENSG00000154864:ENST00000302079:exon25:c.T3684G:p.Y1228X;	3.31958674785935E-4	0.452
18	10758131	A	G	18	10758133	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon25:c.T3684C:p.Y1228Y;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.T3759C:p.Y1253Y;ENSG00000154864:ENST00000582913:exon26:c.T3726C:p.Y1242Y;ENSG00000154864:ENST00000503781:exon25:c.T3684C:p.Y1228Y;ENSG00000154864:ENST00000383408:exon12:c.T1548C:p.Y516Y;ENSG00000154864:ENST00000302079:exon25:c.T3684C:p.Y1228Y;	0.00635183839629882	0.15
18	10758131	A	T	18	10758133	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon25:c.T3684A:p.Y1228X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon27:c.T3759A:p.Y1253X;ENSG00000154864:ENST00000582913:exon26:c.T3726A:p.Y1242X;ENSG00000154864:ENST00000503781:exon25:c.T3684A:p.Y1228X;ENSG00000154864:ENST00000383408:exon12:c.T1548A:p.Y516X;ENSG00000154864:ENST00000302079:exon25:c.T3684A:p.Y1228X;	3.53662215837782E-4	0.438
18	10758132	T	A	18	10758134	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon25:c.A3683T:p.Y1228F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.A3758T:p.Y1253F;ENSG00000154864:ENST00000582913:exon26:c.A3725T:p.Y1242F;ENSG00000154864:ENST00000503781:exon25:c.A3683T:p.Y1228F;ENSG00000154864:ENST00000383408:exon12:c.A1547T:p.Y516F;ENSG00000154864:ENST00000302079:exon25:c.A3683T:p.Y1228F;	0.313212852348869	0.376
18	10758132	T	C	18	10758134	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon25:c.A3683G:p.Y1228C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.A3758G:p.Y1253C;ENSG00000154864:ENST00000582913:exon26:c.A3725G:p.Y1242C;ENSG00000154864:ENST00000503781:exon25:c.A3683G:p.Y1228C;ENSG00000154864:ENST00000383408:exon12:c.A1547G:p.Y516C;ENSG00000154864:ENST00000302079:exon25:c.A3683G:p.Y1228C;	0.0020137492463213	0.016
18	10758132	T	G	18	10758134	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon25:c.A3683C:p.Y1228S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon27:c.A3758C:p.Y1253S;ENSG00000154864:ENST00000582913:exon26:c.A3725C:p.Y1242S;ENSG00000154864:ENST00000503781:exon25:c.A3683C:p.Y1228S;ENSG00000154864:ENST00000383408:exon12:c.A1547C:p.Y516S;ENSG00000154864:ENST00000302079:exon25:c.A3683C:p.Y1228S;	0.124661759174368	0.298
18	10758133	C	A	18	10758135	y	y	splicing	PIEZO2(NM_022068:exon26:c.3683-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3683-1G>T;ENST00000582913:exon27:c.3725-1G>T;ENST00000503781:exon26:c.3683-1G>T;ENST00000580640:exon28:c.3758-1G>T;ENST00000383408:exon13:c.1547-1G>T)	.	.	0.999981760802075	0.944
18	10758133	C	G	18	10758135	y	y	splicing	PIEZO2(NM_022068:exon26:c.3683-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3683-1G>C;ENST00000582913:exon27:c.3725-1G>C;ENST00000503781:exon26:c.3683-1G>C;ENST00000580640:exon28:c.3758-1G>C;ENST00000383408:exon13:c.1547-1G>C)	.	.	0.999981760802075	0.944
18	10758133	C	T	18	10758135	y	y	splicing	PIEZO2(NM_022068:exon26:c.3683-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3683-1G>A;ENST00000582913:exon27:c.3725-1G>A;ENST00000503781:exon26:c.3683-1G>A;ENST00000580640:exon28:c.3758-1G>A;ENST00000383408:exon13:c.1547-1G>A)	.	.	0.999981760802075	0.944
18	10758134	T	A	18	10758136	y	y	splicing	PIEZO2(NM_022068:exon26:c.3683-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3683-2A>T;ENST00000582913:exon27:c.3725-2A>T;ENST00000503781:exon26:c.3683-2A>T;ENST00000580640:exon28:c.3758-2A>T;ENST00000383408:exon13:c.1547-2A>T)	.	.	0.999989917668626	0.926
18	10758134	T	C	18	10758136	y	y	splicing	PIEZO2(NM_022068:exon26:c.3683-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3683-2A>G;ENST00000582913:exon27:c.3725-2A>G;ENST00000503781:exon26:c.3683-2A>G;ENST00000580640:exon28:c.3758-2A>G;ENST00000383408:exon13:c.1547-2A>G)	.	.	0.999989917668626	0.926
18	10758134	T	G	18	10758136	y	y	splicing	PIEZO2(NM_022068:exon26:c.3683-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon26:c.3683-2A>C;ENST00000582913:exon27:c.3725-2A>C;ENST00000503781:exon26:c.3683-2A>C;ENST00000580640:exon28:c.3758-2A>C;ENST00000383408:exon13:c.1547-2A>C)	.	.	0.999989917668626	0.926
18	10758135	A	C	18	10758137	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99360126494979	0.82
18	10758135	A	G	18	10758137	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.49005811484196E-5	0.006
18	10758135	A	T	18	10758137	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.118848677763666	0.342
18	10758136	A	C	18	10758138	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.48013741481148E-4	0.106
18	10758136	A	G	18	10758138	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.32724314675523E-5	0.09
18	10758136	A	T	18	10758138	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.61372602628668E-4	0.002
18	10758137	C	A	18	10758139	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00129333425425159	0.07
18	10758137	C	G	18	10758139	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00127162070608675	0.004
18	10758137	C	T	18	10758139	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.55146170908716E-4	0.02
18	10758138	A	C	18	10758140	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.194879517143091	0.554
18	10758138	A	G	18	10758140	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.76142447299923E-5	0.042
18	10758138	A	T	18	10758140	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999744651123489	0.968
18	10758139	A	C	18	10758141	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0216460242047144	0.216
18	10758139	A	G	18	10758141	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.10163796170579E-4	0.086
18	10758139	A	T	18	10758141	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0161185440107256	0.23
18	10758140	G	A	18	10758142	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.52194213886491E-5	0.022
18	10758140	G	C	18	10758142	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00129805897228412	0.13
18	10758140	G	T	18	10758142	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00585430509272701	0.138
18	10758141	A	C	18	10758143	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.269327148992308	0.542
18	10758141	A	G	18	10758143	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00927589613802528	0.096
18	10758141	A	T	18	10758143	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.772061349390058	0.684
18	10758142	C	A	18	10758144	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.85601094707765E-4	0.0
18	10758142	C	G	18	10758144	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.97651592577354E-4	0.002
18	10758142	C	T	18	10758144	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00288394953336269	0.184
18	10758143	A	C	18	10758145	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.989936423880796	0.91
18	10758143	A	G	18	10758145	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.686733891132597	0.512
18	10758143	A	T	18	10758145	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999960948689354	0.99
18	10758144	G	A	18	10758146	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.47232077409E-4	0.002
18	10758144	G	C	18	10758146	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00151332760763128	0.086
18	10758144	G	T	18	10758146	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0024014574602652	0.054
18	10759472	A	C	18	10759474	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.67913362548491E-4	0.012
18	10759472	A	G	18	10759474	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.17748607779611E-4	0.006
18	10759472	A	T	18	10759474	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.57450381184695E-4	0.0
18	10759473	C	A	18	10759475	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.41713467150196E-4	0.036
18	10759473	C	G	18	10759475	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.75289494538373E-5	0.0
18	10759473	C	T	18	10759475	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.14913637161838E-5	0.0
18	10759474	A	C	18	10759476	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995537908856951	0.892
18	10759474	A	G	18	10759476	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997794383042862	0.966
18	10759474	A	T	18	10759476	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.991417780615354	0.792
18	10759475	C	A	18	10759477	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999946027806399	0.982
18	10759475	C	G	18	10759477	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999961279603752	0.974
18	10759475	C	T	18	10759477	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999959024331492	1.0
18	10759476	T	A	18	10759478	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997322121702831	0.908
18	10759476	T	C	18	10759478	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999173020175748	0.94
18	10759476	T	G	18	10759478	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999300883448776	0.94
18	10759477	T	A	18	10759479	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999873804019403	0.926
18	10759477	T	C	18	10759479	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0273649786087216	0.264
18	10759477	T	G	18	10759479	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999851252875093	0.928
18	10759478	A	C	18	10759480	y	y	splicing	PIEZO2(NM_022068:exon25:c.3682+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3682+2T>G;ENST00000582913:exon26:c.3724+2T>G;ENST00000503781:exon25:c.3682+2T>G;ENST00000580640:exon27:c.3757+2T>G;ENST00000383408:exon12:c.1546+2T>G)	.	.	0.999988247793601	0.928
18	10759478	A	G	18	10759480	y	y	splicing	PIEZO2(NM_022068:exon25:c.3682+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3682+2T>C;ENST00000582913:exon26:c.3724+2T>C;ENST00000503781:exon25:c.3682+2T>C;ENST00000580640:exon27:c.3757+2T>C;ENST00000383408:exon12:c.1546+2T>C)	.	.	0.998073660937629	0.774
18	10759478	A	T	18	10759480	y	y	splicing	PIEZO2(NM_022068:exon25:c.3682+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3682+2T>A;ENST00000582913:exon26:c.3724+2T>A;ENST00000503781:exon25:c.3682+2T>A;ENST00000580640:exon27:c.3757+2T>A;ENST00000383408:exon12:c.1546+2T>A)	.	.	0.999988247793601	0.928
18	10759479	C	A	18	10759481	y	y	splicing	PIEZO2(NM_022068:exon25:c.3682+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3682+1G>T;ENST00000582913:exon26:c.3724+1G>T;ENST00000503781:exon25:c.3682+1G>T;ENST00000580640:exon27:c.3757+1G>T;ENST00000383408:exon12:c.1546+1G>T)	.	.	0.999985532734767	0.936
18	10759479	C	G	18	10759481	y	y	splicing	PIEZO2(NM_022068:exon25:c.3682+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3682+1G>C;ENST00000582913:exon26:c.3724+1G>C;ENST00000503781:exon25:c.3682+1G>C;ENST00000580640:exon27:c.3757+1G>C;ENST00000383408:exon12:c.1546+1G>C)	.	.	0.999985532734767	0.936
18	10759479	C	T	18	10759481	y	y	splicing	PIEZO2(NM_022068:exon25:c.3682+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3682+1G>A;ENST00000582913:exon26:c.3724+1G>A;ENST00000503781:exon25:c.3682+1G>A;ENST00000580640:exon27:c.3757+1G>A;ENST00000383408:exon12:c.1546+1G>A)	.	.	0.999985532734767	0.936
18	10759480	A	C	18	10759482	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.T3682G:p.Y1228D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3757G:p.Y1253D;ENSG00000154864:ENST00000582913:exon25:c.T3724G:p.Y1242D;ENSG00000154864:ENST00000503781:exon24:c.T3682G:p.Y1228D;ENSG00000154864:ENST00000383408:exon11:c.T1546G:p.Y516D;ENSG00000154864:ENST00000302079:exon24:c.T3682G:p.Y1228D;	0.00783242703583019	0.088
18	10759480	A	G	18	10759482	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.T3682C:p.Y1228H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3757C:p.Y1253H;ENSG00000154864:ENST00000582913:exon25:c.T3724C:p.Y1242H;ENSG00000154864:ENST00000503781:exon24:c.T3682C:p.Y1228H;ENSG00000154864:ENST00000383408:exon11:c.T1546C:p.Y516H;ENSG00000154864:ENST00000302079:exon24:c.T3682C:p.Y1228H;	0.643467748367887	0.698
18	10759480	A	T	18	10759482	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.T3682A:p.Y1228N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3757A:p.Y1253N;ENSG00000154864:ENST00000582913:exon25:c.T3724A:p.Y1242N;ENSG00000154864:ENST00000503781:exon24:c.T3682A:p.Y1228N;ENSG00000154864:ENST00000383408:exon11:c.T1546A:p.Y516N;ENSG00000154864:ENST00000302079:exon24:c.T3682A:p.Y1228N;	0.14946961698778	0.466
18	10759481	G	A	18	10759483	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon24:c.C3681T:p.V1227V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.C3756T:p.V1252V;ENSG00000154864:ENST00000582913:exon25:c.C3723T:p.V1241V;ENSG00000154864:ENST00000503781:exon24:c.C3681T:p.V1227V;ENSG00000154864:ENST00000383408:exon11:c.C1545T:p.V515V;ENSG00000154864:ENST00000302079:exon24:c.C3681T:p.V1227V;	0.00135140734141249	0.082
18	10759481	G	C	18	10759483	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon24:c.C3681G:p.V1227V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.C3756G:p.V1252V;ENSG00000154864:ENST00000582913:exon25:c.C3723G:p.V1241V;ENSG00000154864:ENST00000503781:exon24:c.C3681G:p.V1227V;ENSG00000154864:ENST00000383408:exon11:c.C1545G:p.V515V;ENSG00000154864:ENST00000302079:exon24:c.C3681G:p.V1227V;	0.00446780153665894	0.08
18	10759481	G	T	18	10759483	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon24:c.C3681A:p.V1227V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.C3756A:p.V1252V;ENSG00000154864:ENST00000582913:exon25:c.C3723A:p.V1241V;ENSG00000154864:ENST00000503781:exon24:c.C3681A:p.V1227V;ENSG00000154864:ENST00000383408:exon11:c.C1545A:p.V515V;ENSG00000154864:ENST00000302079:exon24:c.C3681A:p.V1227V;	7.37406050794911E-4	0.168
18	10759482	A	C	18	10759484	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.T3680G:p.V1227G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3755G:p.V1252G;ENSG00000154864:ENST00000582913:exon25:c.T3722G:p.V1241G;ENSG00000154864:ENST00000503781:exon24:c.T3680G:p.V1227G;ENSG00000154864:ENST00000383408:exon11:c.T1544G:p.V515G;ENSG00000154864:ENST00000302079:exon24:c.T3680G:p.V1227G;	2.4322357282214E-4	0.018
18	10759482	A	G	18	10759484	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.T3680C:p.V1227A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3755C:p.V1252A;ENSG00000154864:ENST00000582913:exon25:c.T3722C:p.V1241A;ENSG00000154864:ENST00000503781:exon24:c.T3680C:p.V1227A;ENSG00000154864:ENST00000383408:exon11:c.T1544C:p.V515A;ENSG00000154864:ENST00000302079:exon24:c.T3680C:p.V1227A;	0.00116862881439664	0.03
18	10759482	A	T	18	10759484	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.T3680A:p.V1227D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3755A:p.V1252D;ENSG00000154864:ENST00000582913:exon25:c.T3722A:p.V1241D;ENSG00000154864:ENST00000503781:exon24:c.T3680A:p.V1227D;ENSG00000154864:ENST00000383408:exon11:c.T1544A:p.V515D;ENSG00000154864:ENST00000302079:exon24:c.T3680A:p.V1227D;	2.53400048110191E-4	0.002
18	10759580	A	C	18	10759582	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.T3582G:p.D1194E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3657G:p.D1219E;ENSG00000154864:ENST00000582913:exon25:c.T3624G:p.D1208E;ENSG00000154864:ENST00000503781:exon24:c.T3582G:p.D1194E;ENSG00000154864:ENST00000383408:exon11:c.T1446G:p.D482E;ENSG00000154864:ENST00000302079:exon24:c.T3582G:p.D1194E;	0.0014469740045167	0.014
18	10759580	A	G	18	10759582	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon24:c.T3582C:p.D1194D;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3657C:p.D1219D;ENSG00000154864:ENST00000582913:exon25:c.T3624C:p.D1208D;ENSG00000154864:ENST00000503781:exon24:c.T3582C:p.D1194D;ENSG00000154864:ENST00000383408:exon11:c.T1446C:p.D482D;ENSG00000154864:ENST00000302079:exon24:c.T3582C:p.D1194D;	6.36158810645045E-4	0.01
18	10759580	A	T	18	10759582	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.T3582A:p.D1194E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.T3657A:p.D1219E;ENSG00000154864:ENST00000582913:exon25:c.T3624A:p.D1208E;ENSG00000154864:ENST00000503781:exon24:c.T3582A:p.D1194E;ENSG00000154864:ENST00000383408:exon11:c.T1446A:p.D482E;ENSG00000154864:ENST00000302079:exon24:c.T3582A:p.D1194E;	5.07871745021351E-4	0.012
18	10759581	T	A	18	10759583	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.A3581T:p.D1194V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.A3656T:p.D1219V;ENSG00000154864:ENST00000582913:exon25:c.A3623T:p.D1208V;ENSG00000154864:ENST00000503781:exon24:c.A3581T:p.D1194V;ENSG00000154864:ENST00000383408:exon11:c.A1445T:p.D482V;ENSG00000154864:ENST00000302079:exon24:c.A3581T:p.D1194V;	0.114079750193743	0.402
18	10759581	T	C	18	10759583	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.A3581G:p.D1194G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.A3656G:p.D1219G;ENSG00000154864:ENST00000582913:exon25:c.A3623G:p.D1208G;ENSG00000154864:ENST00000503781:exon24:c.A3581G:p.D1194G;ENSG00000154864:ENST00000383408:exon11:c.A1445G:p.D482G;ENSG00000154864:ENST00000302079:exon24:c.A3581G:p.D1194G;	0.0177922460359016	0.288
18	10759581	T	G	18	10759583	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon24:c.A3581C:p.D1194A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon26:c.A3656C:p.D1219A;ENSG00000154864:ENST00000582913:exon25:c.A3623C:p.D1208A;ENSG00000154864:ENST00000503781:exon24:c.A3581C:p.D1194A;ENSG00000154864:ENST00000383408:exon11:c.A1445C:p.D482A;ENSG00000154864:ENST00000302079:exon24:c.A3581C:p.D1194A;	0.0748392367689064	0.42
18	10759582	C	A	18	10759584	y	y	splicing	PIEZO2(NM_022068:exon25:c.3581-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3581-1G>T;ENST00000582913:exon26:c.3623-1G>T;ENST00000503781:exon25:c.3581-1G>T;ENST00000580640:exon27:c.3656-1G>T;ENST00000383408:exon12:c.1445-1G>T)	.	.	0.999985532734767	0.936
18	10759582	C	G	18	10759584	y	y	splicing	PIEZO2(NM_022068:exon25:c.3581-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3581-1G>C;ENST00000582913:exon26:c.3623-1G>C;ENST00000503781:exon25:c.3581-1G>C;ENST00000580640:exon27:c.3656-1G>C;ENST00000383408:exon12:c.1445-1G>C)	.	.	0.999985532734767	0.936
18	10759582	C	T	18	10759584	y	y	splicing	PIEZO2(NM_022068:exon25:c.3581-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3581-1G>A;ENST00000582913:exon26:c.3623-1G>A;ENST00000503781:exon25:c.3581-1G>A;ENST00000580640:exon27:c.3656-1G>A;ENST00000383408:exon12:c.1445-1G>A)	.	.	0.999985532734767	0.936
18	10759583	T	A	18	10759585	y	y	splicing	PIEZO2(NM_022068:exon25:c.3581-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3581-2A>T;ENST00000582913:exon26:c.3623-2A>T;ENST00000503781:exon25:c.3581-2A>T;ENST00000580640:exon27:c.3656-2A>T;ENST00000383408:exon12:c.1445-2A>T)	.	.	0.999988247793601	0.928
18	10759583	T	C	18	10759585	y	y	splicing	PIEZO2(NM_022068:exon25:c.3581-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3581-2A>G;ENST00000582913:exon26:c.3623-2A>G;ENST00000503781:exon25:c.3581-2A>G;ENST00000580640:exon27:c.3656-2A>G;ENST00000383408:exon12:c.1445-2A>G)	.	.	0.999988247793601	0.928
18	10759583	T	G	18	10759585	y	y	splicing	PIEZO2(NM_022068:exon25:c.3581-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon25:c.3581-2A>C;ENST00000582913:exon26:c.3623-2A>C;ENST00000503781:exon25:c.3581-2A>C;ENST00000580640:exon27:c.3656-2A>C;ENST00000383408:exon12:c.1445-2A>C)	.	.	0.999988247793601	0.928
18	10759584	G	A	18	10759586	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0917207577654078	0.214
18	10759584	G	C	18	10759586	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999901416299277	0.968
18	10759584	G	T	18	10759586	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999270853388493	0.872
18	10759585	C	A	18	10759587	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.30444571290812E-4	0.028
18	10759585	C	G	18	10759587	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.27602708584974E-4	0.05
18	10759585	C	T	18	10759587	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.62656951178171E-4	0.032
18	10759586	A	C	18	10759588	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.40982590006103E-4	0.092
18	10759586	A	G	18	10759588	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.56890028706818E-5	0.012
18	10759586	A	T	18	10759588	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.974549339828054	0.796
18	10759587	G	A	18	10759589	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.12268995494839E-4	0.006
18	10759587	G	C	18	10759589	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00123286425564765	0.13
18	10759587	G	T	18	10759589	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00157790853107114	0.142
18	10759588	G	A	18	10759590	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.709009944239E-5	0.0
18	10759588	G	C	18	10759590	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00105304768613371	0.046
18	10759588	G	T	18	10759590	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.69031480923241E-4	0.068
18	10759589	G	A	18	10759591	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.63317242343497E-5	0.004
18	10759589	G	C	18	10759591	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.62541176168522E-4	0.032
18	10759589	G	T	18	10759591	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.70734034503422E-4	0.044
18	10759590	A	C	18	10759592	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0045896217751694	0.096
18	10759590	A	G	18	10759592	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.90762764312195E-4	0.018
18	10759590	A	T	18	10759592	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00262770699749569	0.126
18	10759591	G	A	18	10759593	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.08382126575112E-5	0.002
18	10759591	G	C	18	10759593	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.54202732697407E-4	0.018
18	10759591	G	T	18	10759593	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.05401149481408E-4	0.034
18	10759592	G	A	18	10759594	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.51272006072004E-4	0.01
18	10759592	G	C	18	10759594	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00154655334913114	0.09
18	10759592	G	T	18	10759594	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00445500011893607	0.234
18	10759593	G	A	18	10759595	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.58336380141938E-5	0.004
18	10759593	G	C	18	10759595	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.58170507460495E-4	0.042
18	10759593	G	T	18	10759595	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.02828986676369E-4	0.068
18	10759695	A	C	18	10759697	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.44880038322274E-5	0.0
18	10759695	A	G	18	10759697	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.3995392500311E-5	0.0
18	10759695	A	T	18	10759697	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.43949593129782E-5	0.0
18	10759696	G	A	18	10759698	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.65154873760533E-4	0.0
18	10759696	G	C	18	10759698	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.77497039365624E-5	0.0
18	10759696	G	T	18	10759698	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.80447667337362E-5	0.0
18	10759697	G	A	18	10759699	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.09929642696645E-5	0.004
18	10759697	G	C	18	10759699	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.62111264746092E-4	0.038
18	10759697	G	T	18	10759699	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.65548324287066E-4	0.05
18	10759698	C	A	18	10759700	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.98247408437122	0.806
18	10759698	C	G	18	10759700	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.982712920270182	0.676
18	10759698	C	T	18	10759700	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.989049079142159	0.788
18	10759699	T	A	18	10759701	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.981895574719129	0.666
18	10759699	T	C	18	10759701	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.710206585403471	0.606
18	10759699	T	G	18	10759701	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.3687919113067	0.468
18	10759700	C	A	18	10759702	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.616283401052214	0.528
18	10759700	C	G	18	10759702	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.469791621415562	0.574
18	10759700	C	T	18	10759702	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.36207531910056E-5	0.032
18	10759701	A	C	18	10759703	y	y	splicing	PIEZO2(NM_022068:exon24:c.3580+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3580+2T>G;ENST00000582913:exon25:c.3622+2T>G;ENST00000503781:exon24:c.3580+2T>G;ENST00000580640:exon26:c.3655+2T>G;ENST00000383408:exon11:c.1444+2T>G)	.	.	0.999988247793601	0.928
18	10759701	A	G	18	10759703	y	y	splicing	PIEZO2(NM_022068:exon24:c.3580+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3580+2T>C;ENST00000582913:exon25:c.3622+2T>C;ENST00000503781:exon24:c.3580+2T>C;ENST00000580640:exon26:c.3655+2T>C;ENST00000383408:exon11:c.1444+2T>C)	.	.	0.999929727175276	0.866
18	10759701	A	T	18	10759703	y	y	splicing	PIEZO2(NM_022068:exon24:c.3580+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3580+2T>A;ENST00000582913:exon25:c.3622+2T>A;ENST00000503781:exon24:c.3580+2T>A;ENST00000580640:exon26:c.3655+2T>A;ENST00000383408:exon11:c.1444+2T>A)	.	.	0.999988247793601	0.928
18	10759702	C	A	18	10759704	y	y	splicing	PIEZO2(NM_022068:exon24:c.3580+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3580+1G>T;ENST00000582913:exon25:c.3622+1G>T;ENST00000503781:exon24:c.3580+1G>T;ENST00000580640:exon26:c.3655+1G>T;ENST00000383408:exon11:c.1444+1G>T)	.	.	0.999985532734767	0.938
18	10759702	C	G	18	10759704	y	y	splicing	PIEZO2(NM_022068:exon24:c.3580+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3580+1G>C;ENST00000582913:exon25:c.3622+1G>C;ENST00000503781:exon24:c.3580+1G>C;ENST00000580640:exon26:c.3655+1G>C;ENST00000383408:exon11:c.1444+1G>C)	.	.	0.999985532734767	0.938
18	10759702	C	T	18	10759704	y	y	splicing	PIEZO2(NM_022068:exon24:c.3580+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3580+1G>A;ENST00000582913:exon25:c.3622+1G>A;ENST00000503781:exon24:c.3580+1G>A;ENST00000580640:exon26:c.3655+1G>A;ENST00000383408:exon11:c.1444+1G>A)	.	.	0.999985532734767	0.938
18	10759703	C	A	18	10759705	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.G3580T:p.D1194Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.G3655T:p.D1219Y;ENSG00000154864:ENST00000582913:exon24:c.G3622T:p.D1208Y;ENSG00000154864:ENST00000503781:exon23:c.G3580T:p.D1194Y;ENSG00000154864:ENST00000383408:exon10:c.G1444T:p.D482Y;ENSG00000154864:ENST00000302079:exon23:c.G3580T:p.D1194Y;	0.999476700192169	0.932
18	10759703	C	G	18	10759705	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.G3580C:p.D1194H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.G3655C:p.D1219H;ENSG00000154864:ENST00000582913:exon24:c.G3622C:p.D1208H;ENSG00000154864:ENST00000503781:exon23:c.G3580C:p.D1194H;ENSG00000154864:ENST00000383408:exon10:c.G1444C:p.D482H;ENSG00000154864:ENST00000302079:exon23:c.G3580C:p.D1194H;	0.99998320319321	0.976
18	10759703	C	T	18	10759705	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.G3580A:p.D1194N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.G3655A:p.D1219N;ENSG00000154864:ENST00000582913:exon24:c.G3622A:p.D1208N;ENSG00000154864:ENST00000503781:exon23:c.G3580A:p.D1194N;ENSG00000154864:ENST00000383408:exon10:c.G1444A:p.D482N;ENSG00000154864:ENST00000302079:exon23:c.G3580A:p.D1194N;	0.999957688004835	1.0
18	10759704	T	A	18	10759706	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon23:c.A3579T:p.R1193R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.A3654T:p.R1218R;ENSG00000154864:ENST00000582913:exon24:c.A3621T:p.R1207R;ENSG00000154864:ENST00000503781:exon23:c.A3579T:p.R1193R;ENSG00000154864:ENST00000383408:exon10:c.A1443T:p.R481R;ENSG00000154864:ENST00000302079:exon23:c.A3579T:p.R1193R;	0.989154749587801	0.824
18	10759704	T	C	18	10759706	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon23:c.A3579G:p.R1193R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.A3654G:p.R1218R;ENSG00000154864:ENST00000582913:exon24:c.A3621G:p.R1207R;ENSG00000154864:ENST00000503781:exon23:c.A3579G:p.R1193R;ENSG00000154864:ENST00000383408:exon10:c.A1443G:p.R481R;ENSG00000154864:ENST00000302079:exon23:c.A3579G:p.R1193R;	0.992474445496393	0.852
18	10759704	T	G	18	10759706	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon23:c.A3579C:p.R1193R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.A3654C:p.R1218R;ENSG00000154864:ENST00000582913:exon24:c.A3621C:p.R1207R;ENSG00000154864:ENST00000503781:exon23:c.A3579C:p.R1193R;ENSG00000154864:ENST00000383408:exon10:c.A1443C:p.R481R;ENSG00000154864:ENST00000302079:exon23:c.A3579C:p.R1193R;	0.935079585034425	0.718
18	10759705	C	A	18	10759707	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.G3578T:p.R1193L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.G3653T:p.R1218L;ENSG00000154864:ENST00000582913:exon24:c.G3620T:p.R1207L;ENSG00000154864:ENST00000503781:exon23:c.G3578T:p.R1193L;ENSG00000154864:ENST00000383408:exon10:c.G1442T:p.R481L;ENSG00000154864:ENST00000302079:exon23:c.G3578T:p.R1193L;	0.00323214274601979	0.116
18	10759705	C	G	18	10759707	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.G3578C:p.R1193P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.G3653C:p.R1218P;ENSG00000154864:ENST00000582913:exon24:c.G3620C:p.R1207P;ENSG00000154864:ENST00000503781:exon23:c.G3578C:p.R1193P;ENSG00000154864:ENST00000383408:exon10:c.G1442C:p.R481P;ENSG00000154864:ENST00000302079:exon23:c.G3578C:p.R1193P;	4.23603440839623E-4	0.018
18	10759705	C	T	18	10759707	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.G3578A:p.R1193Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.G3653A:p.R1218Q;ENSG00000154864:ENST00000582913:exon24:c.G3620A:p.R1207Q;ENSG00000154864:ENST00000503781:exon23:c.G3578A:p.R1193Q;ENSG00000154864:ENST00000383408:exon10:c.G1442A:p.R481Q;ENSG00000154864:ENST00000302079:exon23:c.G3578A:p.R1193Q;	9.17664809357564E-4	0.046
18	10759906	G	A	18	10759908	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.C3377T:p.T1126I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.C3452T:p.T1151I;ENSG00000154864:ENST00000582913:exon24:c.C3419T:p.T1140I;ENSG00000154864:ENST00000503781:exon23:c.C3377T:p.T1126I;ENSG00000154864:ENST00000383408:exon10:c.C1241T:p.T414I;ENSG00000154864:ENST00000302079:exon23:c.C3377T:p.T1126I;	0.00143703689484453	0.004
18	10759906	G	C	18	10759908	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.C3377G:p.T1126S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.C3452G:p.T1151S;ENSG00000154864:ENST00000582913:exon24:c.C3419G:p.T1140S;ENSG00000154864:ENST00000503781:exon23:c.C3377G:p.T1126S;ENSG00000154864:ENST00000383408:exon10:c.C1241G:p.T414S;ENSG00000154864:ENST00000302079:exon23:c.C3377G:p.T1126S;	0.00113857144672613	0.04
18	10759906	G	T	18	10759908	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.C3377A:p.T1126N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.C3452A:p.T1151N;ENSG00000154864:ENST00000582913:exon24:c.C3419A:p.T1140N;ENSG00000154864:ENST00000503781:exon23:c.C3377A:p.T1126N;ENSG00000154864:ENST00000383408:exon10:c.C1241A:p.T414N;ENSG00000154864:ENST00000302079:exon23:c.C3377A:p.T1126N;	4.69195247094343E-4	0.038
18	10759907	T	A	18	10759909	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.A3376T:p.T1126S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.A3451T:p.T1151S;ENSG00000154864:ENST00000582913:exon24:c.A3418T:p.T1140S;ENSG00000154864:ENST00000503781:exon23:c.A3376T:p.T1126S;ENSG00000154864:ENST00000383408:exon10:c.A1240T:p.T414S;ENSG00000154864:ENST00000302079:exon23:c.A3376T:p.T1126S;	0.413820703849726	0.518
18	10759907	T	C	18	10759909	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.A3376G:p.T1126A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.A3451G:p.T1151A;ENSG00000154864:ENST00000582913:exon24:c.A3418G:p.T1140A;ENSG00000154864:ENST00000503781:exon23:c.A3376G:p.T1126A;ENSG00000154864:ENST00000383408:exon10:c.A1240G:p.T414A;ENSG00000154864:ENST00000302079:exon23:c.A3376G:p.T1126A;	0.0224480280344376	0.168
18	10759907	T	G	18	10759909	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon23:c.A3376C:p.T1126P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon25:c.A3451C:p.T1151P;ENSG00000154864:ENST00000582913:exon24:c.A3418C:p.T1140P;ENSG00000154864:ENST00000503781:exon23:c.A3376C:p.T1126P;ENSG00000154864:ENST00000383408:exon10:c.A1240C:p.T414P;ENSG00000154864:ENST00000302079:exon23:c.A3376C:p.T1126P;	0.205750750842861	0.388
18	10759908	C	A	18	10759910	y	y	splicing	PIEZO2(NM_022068:exon24:c.3376-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3376-1G>T;ENST00000582913:exon25:c.3418-1G>T;ENST00000503781:exon24:c.3376-1G>T;ENST00000580640:exon26:c.3451-1G>T;ENST00000383408:exon11:c.1240-1G>T)	.	.	0.999981760802075	0.938
18	10759908	C	G	18	10759910	y	y	splicing	PIEZO2(NM_022068:exon24:c.3376-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3376-1G>C;ENST00000582913:exon25:c.3418-1G>C;ENST00000503781:exon24:c.3376-1G>C;ENST00000580640:exon26:c.3451-1G>C;ENST00000383408:exon11:c.1240-1G>C)	.	.	0.999981760802075	0.938
18	10759908	C	T	18	10759910	y	y	splicing	PIEZO2(NM_022068:exon24:c.3376-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3376-1G>A;ENST00000582913:exon25:c.3418-1G>A;ENST00000503781:exon24:c.3376-1G>A;ENST00000580640:exon26:c.3451-1G>A;ENST00000383408:exon11:c.1240-1G>A)	.	.	0.999981760802075	0.938
18	10759909	T	A	18	10759911	y	y	splicing	PIEZO2(NM_022068:exon24:c.3376-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3376-2A>T;ENST00000582913:exon25:c.3418-2A>T;ENST00000503781:exon24:c.3376-2A>T;ENST00000580640:exon26:c.3451-2A>T;ENST00000383408:exon11:c.1240-2A>T)	.	.	0.999989917668626	0.92
18	10759909	T	C	18	10759911	y	y	splicing	PIEZO2(NM_022068:exon24:c.3376-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3376-2A>G;ENST00000582913:exon25:c.3418-2A>G;ENST00000503781:exon24:c.3376-2A>G;ENST00000580640:exon26:c.3451-2A>G;ENST00000383408:exon11:c.1240-2A>G)	.	.	0.999989917668626	0.92
18	10759909	T	G	18	10759911	y	y	splicing	PIEZO2(NM_022068:exon24:c.3376-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon24:c.3376-2A>C;ENST00000582913:exon25:c.3418-2A>C;ENST00000503781:exon24:c.3376-2A>C;ENST00000580640:exon26:c.3451-2A>C;ENST00000383408:exon11:c.1240-2A>C)	.	.	0.999989917668626	0.92
18	10759910	G	A	18	10759912	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.484746515236457	0.16
18	10759910	G	C	18	10759912	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.9998438011439	0.984
18	10759910	G	T	18	10759912	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999448791162985	0.966
18	10759911	T	A	18	10759913	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00227676481693849	0.044
18	10759911	T	C	18	10759913	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.39294096870244E-4	0.082
18	10759911	T	G	18	10759913	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.19249787394381E-4	0.002
18	10759912	G	A	18	10759914	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.83662672609718E-5	0.0
18	10759912	G	C	18	10759914	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999782205276905	0.954
18	10759912	G	T	18	10759914	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.39780315691557E-4	0.078
18	10759913	T	A	18	10759915	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.81378470159695E-4	0.024
18	10759913	T	C	18	10759915	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0040694946975895	0.036
18	10759913	T	G	18	10759915	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00109329689053691	0.046
18	10759914	A	C	18	10759916	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.013080497362706	0.144
18	10759914	A	G	18	10759916	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.18323377178399E-4	0.068
18	10759914	A	T	18	10759916	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.257552024393413	0.328
18	10759915	A	C	18	10759917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00127108095600529	0.212
18	10759915	A	G	18	10759917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.86109644975358E-4	0.004
18	10759915	A	T	18	10759917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0798773313859891	0.328
18	10759916	A	C	18	10759918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0902599565775157	0.446
18	10759916	A	G	18	10759918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.21234335326601E-4	0.028
18	10759916	A	T	18	10759918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.333702795109831	0.538
18	10759917	G	A	18	10759919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.45296103830108E-4	0.024
18	10759917	G	C	18	10759919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0101943016301299	0.052
18	10759917	G	T	18	10759919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00539852928992223	0.058
18	10759918	A	C	18	10759920	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999754584845614	0.964
18	10759918	A	G	18	10759920	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0648495354816343	0.242
18	10759918	A	T	18	10759920	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.455193868061418	0.638
18	10759919	T	A	18	10759921	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.13610957426341E-5	0.006
18	10759919	T	C	18	10759921	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.48572779180851E-5	0.014
18	10759919	T	G	18	10759921	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.31964003137947E-5	0.004
18	10760901	A	C	18	10760903	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.88157496572851E-5	0.0
18	10760901	A	G	18	10760903	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.09284186438967E-5	0.0
18	10760901	A	T	18	10760903	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.09284186438967E-5	0.0
18	10760902	A	C	18	10760904	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00619148531435898	0.034
18	10760902	A	G	18	10760904	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00619148531435898	0.034
18	10760902	A	T	18	10760904	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00536406225409894	0.034
18	10760903	A	C	18	10760905	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.564485977879473	0.434
18	10760903	A	G	18	10760905	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.806680248623614	0.468
18	10760903	A	T	18	10760905	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.973595741294045	0.666
18	10760904	C	A	18	10760906	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995288480241506	0.852
18	10760904	C	G	18	10760906	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.988103536902735	0.862
18	10760904	C	T	18	10760906	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998600414493373	0.944
18	10760905	T	A	18	10760907	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997423280093286	0.852
18	10760905	T	C	18	10760907	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.994749574630415	0.824
18	10760905	T	G	18	10760907	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.976957271319991	0.668
18	10760906	C	A	18	10760908	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.284025181734918	0.438
18	10760906	C	G	18	10760908	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.162194351481673	0.506
18	10760906	C	T	18	10760908	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.93231643330278E-5	0.008
18	10760907	A	C	18	10760909	y	y	splicing	PIEZO2(NM_022068:exon23:c.3375+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3375+2T>G;ENST00000582913:exon24:c.3417+2T>G;ENST00000503781:exon23:c.3375+2T>G;ENST00000580640:exon25:c.3450+2T>G;ENST00000383408:exon10:c.1239+2T>G)	.	.	0.999992752818502	0.928
18	10760907	A	G	18	10760909	y	y	splicing	PIEZO2(NM_022068:exon23:c.3375+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3375+2T>C;ENST00000582913:exon24:c.3417+2T>C;ENST00000503781:exon23:c.3375+2T>C;ENST00000580640:exon25:c.3450+2T>C;ENST00000383408:exon10:c.1239+2T>C)	.	.	0.999929375071544	0.858
18	10760907	A	T	18	10760909	y	y	splicing	PIEZO2(NM_022068:exon23:c.3375+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3375+2T>A;ENST00000582913:exon24:c.3417+2T>A;ENST00000503781:exon23:c.3375+2T>A;ENST00000580640:exon25:c.3450+2T>A;ENST00000383408:exon10:c.1239+2T>A)	.	.	0.999992752818502	0.928
18	10760908	C	A	18	10760910	y	y	splicing	PIEZO2(NM_022068:exon23:c.3375+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3375+1G>T;ENST00000582913:exon24:c.3417+1G>T;ENST00000503781:exon23:c.3375+1G>T;ENST00000580640:exon25:c.3450+1G>T;ENST00000383408:exon10:c.1239+1G>T)	.	.	0.999981760802075	0.938
18	10760908	C	G	18	10760910	y	y	splicing	PIEZO2(NM_022068:exon23:c.3375+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3375+1G>C;ENST00000582913:exon24:c.3417+1G>C;ENST00000503781:exon23:c.3375+1G>C;ENST00000580640:exon25:c.3450+1G>C;ENST00000383408:exon10:c.1239+1G>C)	.	.	0.999981760802075	0.938
18	10760908	C	T	18	10760910	y	y	splicing	PIEZO2(NM_022068:exon23:c.3375+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3375+1G>A;ENST00000582913:exon24:c.3417+1G>A;ENST00000503781:exon23:c.3375+1G>A;ENST00000580640:exon25:c.3450+1G>A;ENST00000383408:exon10:c.1239+1G>A)	.	.	0.999981760802075	0.938
18	10760909	C	A	18	10760911	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.G3375T:p.E1125D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.G3450T:p.E1150D;ENSG00000154864:ENST00000582913:exon23:c.G3417T:p.E1139D;ENSG00000154864:ENST00000503781:exon22:c.G3375T:p.E1125D;ENSG00000154864:ENST00000383408:exon9:c.G1239T:p.E413D;ENSG00000154864:ENST00000302079:exon22:c.G3375T:p.E1125D;	0.972346637267722	0.876
18	10760909	C	G	18	10760911	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.G3375C:p.E1125D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.G3450C:p.E1150D;ENSG00000154864:ENST00000582913:exon23:c.G3417C:p.E1139D;ENSG00000154864:ENST00000503781:exon22:c.G3375C:p.E1125D;ENSG00000154864:ENST00000383408:exon9:c.G1239C:p.E413D;ENSG00000154864:ENST00000302079:exon22:c.G3375C:p.E1125D;	0.99464581979591	0.856
18	10760909	C	T	18	10760911	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon22:c.G3375A:p.E1125E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.G3450A:p.E1150E;ENSG00000154864:ENST00000582913:exon23:c.G3417A:p.E1139E;ENSG00000154864:ENST00000503781:exon22:c.G3375A:p.E1125E;ENSG00000154864:ENST00000383408:exon9:c.G1239A:p.E413E;ENSG00000154864:ENST00000302079:exon22:c.G3375A:p.E1125E;	0.938121817225501	0.712
18	10760910	T	A	18	10760912	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3374T:p.E1125V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3449T:p.E1150V;ENSG00000154864:ENST00000582913:exon23:c.A3416T:p.E1139V;ENSG00000154864:ENST00000503781:exon22:c.A3374T:p.E1125V;ENSG00000154864:ENST00000383408:exon9:c.A1238T:p.E413V;ENSG00000154864:ENST00000302079:exon22:c.A3374T:p.E1125V;	0.90397678460383	0.726
18	10760910	T	C	18	10760912	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3374G:p.E1125G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3449G:p.E1150G;ENSG00000154864:ENST00000582913:exon23:c.A3416G:p.E1139G;ENSG00000154864:ENST00000503781:exon22:c.A3374G:p.E1125G;ENSG00000154864:ENST00000383408:exon9:c.A1238G:p.E413G;ENSG00000154864:ENST00000302079:exon22:c.A3374G:p.E1125G;	0.943250638976914	0.8
18	10760910	T	G	18	10760912	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3374C:p.E1125A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3449C:p.E1150A;ENSG00000154864:ENST00000582913:exon23:c.A3416C:p.E1139A;ENSG00000154864:ENST00000503781:exon22:c.A3374C:p.E1125A;ENSG00000154864:ENST00000383408:exon9:c.A1238C:p.E413A;ENSG00000154864:ENST00000302079:exon22:c.A3374C:p.E1125A;	0.802742026716526	0.702
18	10760911	C	A	18	10760913	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon22:c.G3373T:p.E1125X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon24:c.G3448T:p.E1150X;ENSG00000154864:ENST00000582913:exon23:c.G3415T:p.E1139X;ENSG00000154864:ENST00000503781:exon22:c.G3373T:p.E1125X;ENSG00000154864:ENST00000383408:exon9:c.G1237T:p.E413X;ENSG00000154864:ENST00000302079:exon22:c.G3373T:p.E1125X;	0.894179211641961	0.844
18	10760911	C	G	18	10760913	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.G3373C:p.E1125Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.G3448C:p.E1150Q;ENSG00000154864:ENST00000582913:exon23:c.G3415C:p.E1139Q;ENSG00000154864:ENST00000503781:exon22:c.G3373C:p.E1125Q;ENSG00000154864:ENST00000383408:exon9:c.G1237C:p.E413Q;ENSG00000154864:ENST00000302079:exon22:c.G3373C:p.E1125Q;	0.0435038046494161	0.302
18	10760911	C	T	18	10760913	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.G3373A:p.E1125K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.G3448A:p.E1150K;ENSG00000154864:ENST00000582913:exon23:c.G3415A:p.E1139K;ENSG00000154864:ENST00000503781:exon22:c.G3373A:p.E1125K;ENSG00000154864:ENST00000383408:exon9:c.G1237A:p.E413K;ENSG00000154864:ENST00000302079:exon22:c.G3373A:p.E1125K;	0.559067004771017	0.606
18	10761108	T	A	18	10761110	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3176T:p.N1059I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3251T:p.N1084I;ENSG00000154864:ENST00000582913:exon23:c.A3218T:p.N1073I;ENSG00000154864:ENST00000503781:exon22:c.A3176T:p.N1059I;ENSG00000154864:ENST00000383408:exon9:c.A1040T:p.N347I;ENSG00000154864:ENST00000302079:exon22:c.A3176T:p.N1059I;	0.00376665970186428	0.02
18	10761108	T	C	18	10761110	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3176G:p.N1059S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3251G:p.N1084S;ENSG00000154864:ENST00000582913:exon23:c.A3218G:p.N1073S;ENSG00000154864:ENST00000503781:exon22:c.A3176G:p.N1059S;ENSG00000154864:ENST00000383408:exon9:c.A1040G:p.N347S;ENSG00000154864:ENST00000302079:exon22:c.A3176G:p.N1059S;	0.00298095770307516	0.052
18	10761108	T	G	18	10761110	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3176C:p.N1059T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3251C:p.N1084T;ENSG00000154864:ENST00000582913:exon23:c.A3218C:p.N1073T;ENSG00000154864:ENST00000503781:exon22:c.A3176C:p.N1059T;ENSG00000154864:ENST00000383408:exon9:c.A1040C:p.N347T;ENSG00000154864:ENST00000302079:exon22:c.A3176C:p.N1059T;	0.00153947743271218	0.056
18	10761109	T	A	18	10761111	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3175T:p.N1059Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3250T:p.N1084Y;ENSG00000154864:ENST00000582913:exon23:c.A3217T:p.N1073Y;ENSG00000154864:ENST00000503781:exon22:c.A3175T:p.N1059Y;ENSG00000154864:ENST00000383408:exon9:c.A1039T:p.N347Y;ENSG00000154864:ENST00000302079:exon22:c.A3175T:p.N1059Y;	0.00602286198543169	0.162
18	10761109	T	C	18	10761111	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3175G:p.N1059D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3250G:p.N1084D;ENSG00000154864:ENST00000582913:exon23:c.A3217G:p.N1073D;ENSG00000154864:ENST00000503781:exon22:c.A3175G:p.N1059D;ENSG00000154864:ENST00000383408:exon9:c.A1039G:p.N347D;ENSG00000154864:ENST00000302079:exon22:c.A3175G:p.N1059D;	0.00143555832012483	0.022
18	10761109	T	G	18	10761111	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon22:c.A3175C:p.N1059H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon24:c.A3250C:p.N1084H;ENSG00000154864:ENST00000582913:exon23:c.A3217C:p.N1073H;ENSG00000154864:ENST00000503781:exon22:c.A3175C:p.N1059H;ENSG00000154864:ENST00000383408:exon9:c.A1039C:p.N347H;ENSG00000154864:ENST00000302079:exon22:c.A3175C:p.N1059H;	0.00175247733183203	0.068
18	10761110	C	A	18	10761112	y	y	splicing	PIEZO2(NM_022068:exon23:c.3175-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3175-1G>T;ENST00000582913:exon24:c.3217-1G>T;ENST00000503781:exon23:c.3175-1G>T;ENST00000580640:exon25:c.3250-1G>T;ENST00000383408:exon10:c.1039-1G>T)	.	.	0.999938422912956	0.934
18	10761110	C	G	18	10761112	y	y	splicing	PIEZO2(NM_022068:exon23:c.3175-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3175-1G>C;ENST00000582913:exon24:c.3217-1G>C;ENST00000503781:exon23:c.3175-1G>C;ENST00000580640:exon25:c.3250-1G>C;ENST00000383408:exon10:c.1039-1G>C)	.	.	0.999938422912956	0.944
18	10761110	C	T	18	10761112	y	y	splicing	PIEZO2(NM_022068:exon23:c.3175-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3175-1G>A;ENST00000582913:exon24:c.3217-1G>A;ENST00000503781:exon23:c.3175-1G>A;ENST00000580640:exon25:c.3250-1G>A;ENST00000383408:exon10:c.1039-1G>A)	.	.	0.999938422912956	0.934
18	10761111	T	A	18	10761113	y	y	splicing	PIEZO2(NM_022068:exon23:c.3175-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3175-2A>T;ENST00000582913:exon24:c.3217-2A>T;ENST00000503781:exon23:c.3175-2A>T;ENST00000580640:exon25:c.3250-2A>T;ENST00000383408:exon10:c.1039-2A>T)	.	.	0.999966203349492	0.944
18	10761111	T	C	18	10761113	y	y	splicing	PIEZO2(NM_022068:exon23:c.3175-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3175-2A>G;ENST00000582913:exon24:c.3217-2A>G;ENST00000503781:exon23:c.3175-2A>G;ENST00000580640:exon25:c.3250-2A>G;ENST00000383408:exon10:c.1039-2A>G)	.	.	0.999966203349492	0.944
18	10761111	T	G	18	10761113	y	y	splicing	PIEZO2(NM_022068:exon23:c.3175-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon23:c.3175-2A>C;ENST00000582913:exon24:c.3217-2A>C;ENST00000503781:exon23:c.3175-2A>C;ENST00000580640:exon25:c.3250-2A>C;ENST00000383408:exon10:c.1039-2A>C)	.	.	0.999966203349492	0.944
18	10761112	A	C	18	10761114	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.599921060418966	0.634
18	10761112	A	G	18	10761114	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.47000146720412E-5	0.002
18	10761112	A	T	18	10761114	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00191572900049356	0.112
18	10761113	C	A	18	10761115	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.94716658651354E-5	0.0
18	10761113	C	G	18	10761115	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.05604122120787E-5	0.0
18	10761113	C	T	18	10761115	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.03544181223751E-5	0.0
18	10761114	A	C	18	10761116	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0240282595176931	0.274
18	10761114	A	G	18	10761116	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.2323412908075E-5	0.03
18	10761114	A	T	18	10761116	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999432518119493	0.924
18	10761115	A	C	18	10761117	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00153636592033496	0.084
18	10761115	A	G	18	10761117	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.67906547266335E-5	0.002
18	10761115	A	T	18	10761117	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00439269173347322	0.102
18	10761116	A	C	18	10761118	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.39659864697456E-4	0.06
18	10761116	A	G	18	10761118	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.09852115851398E-4	0.014
18	10761116	A	T	18	10761118	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.78217977454151E-4	0.088
18	10761117	G	A	18	10761119	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.13701281648514E-5	0.0
18	10761117	G	C	18	10761119	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.17998668505029E-4	0.056
18	10761117	G	T	18	10761119	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.24398618158223E-4	0.07
18	10761118	C	A	18	10761120	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.99588721988837E-6	0.0
18	10761118	C	G	18	10761120	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.24915994240113E-6	0.0
18	10761118	C	T	18	10761120	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.78871630199804E-5	0.002
18	10761119	A	C	18	10761121	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.72590775042966E-4	0.102
18	10761119	A	G	18	10761121	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.6974789007431E-5	0.03
18	10761119	A	T	18	10761121	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.988704738310427	0.934
18	10761120	A	C	18	10761122	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.34384576061744E-4	0.086
18	10761120	A	G	18	10761122	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.10272630737367E-4	0.022
18	10761120	A	T	18	10761122	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.59243794426781E-4	0.068
18	10761121	G	A	18	10761123	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.01013799740438E-5	0.0
18	10761121	G	C	18	10761123	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.93067578607895E-5	0.03
18	10761121	G	T	18	10761123	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.60995155588319E-5	0.006
18	10762490	G	A	18	10762492	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00101875541740422	0.024
18	10762490	G	C	18	10762492	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.91520705035218E-4	0.006
18	10762490	G	T	18	10762492	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00101875541740422	0.024
18	10762491	C	A	18	10762493	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00111726929654015	0.096
18	10762491	C	G	18	10762493	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.3877754402278E-5	0.0
18	10762491	C	T	18	10762493	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.08701959700639E-5	0.0
18	10762492	C	A	18	10762494	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.82745896808243E-5	0.028
18	10762492	C	G	18	10762494	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00160032243697514	0.08
18	10762492	C	T	18	10762494	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.4458488982304E-4	0.062
18	10762493	A	C	18	10762495	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.18760020374166E-5	0.004
18	10762493	A	G	18	10762495	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.61998904554472E-5	0.004
18	10762493	A	T	18	10762495	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.51769134209018E-5	0.04
18	10762494	T	A	18	10762496	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998543318226931	0.866
18	10762494	T	C	18	10762496	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999851015397793	0.98
18	10762494	T	G	18	10762496	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999092576007617	0.862
18	10762495	T	A	18	10762497	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999949584412262	0.98
18	10762495	T	C	18	10762497	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999600718391874	0.944
18	10762495	T	G	18	10762497	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999949584412262	0.978
18	10762496	A	C	18	10762498	y	y	splicing	PIEZO2(NM_022068:exon22:c.3174+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3174+2T>G;ENST00000582913:exon23:c.3216+2T>G;ENST00000503781:exon22:c.3174+2T>G;ENST00000580640:exon24:c.3249+2T>G;ENST00000383408:exon9:c.1038+2T>G)	.	.	0.999992076683048	0.94
18	10762496	A	G	18	10762498	y	y	splicing	PIEZO2(NM_022068:exon22:c.3174+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3174+2T>C;ENST00000582913:exon23:c.3216+2T>C;ENST00000503781:exon22:c.3174+2T>C;ENST00000580640:exon24:c.3249+2T>C;ENST00000383408:exon9:c.1038+2T>C)	.	.	0.999942840226682	0.9
18	10762496	A	T	18	10762498	y	y	splicing	PIEZO2(NM_022068:exon22:c.3174+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3174+2T>A;ENST00000582913:exon23:c.3216+2T>A;ENST00000503781:exon22:c.3174+2T>A;ENST00000580640:exon24:c.3249+2T>A;ENST00000383408:exon9:c.1038+2T>A)	.	.	0.999992076683048	0.94
18	10762497	C	A	18	10762499	y	y	splicing	PIEZO2(NM_022068:exon22:c.3174+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3174+1G>T;ENST00000582913:exon23:c.3216+1G>T;ENST00000503781:exon22:c.3174+1G>T;ENST00000580640:exon24:c.3249+1G>T;ENST00000383408:exon9:c.1038+1G>T)	.	.	0.999985666489905	0.946
18	10762497	C	G	18	10762499	y	y	splicing	PIEZO2(NM_022068:exon22:c.3174+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3174+1G>C;ENST00000582913:exon23:c.3216+1G>C;ENST00000503781:exon22:c.3174+1G>C;ENST00000580640:exon24:c.3249+1G>C;ENST00000383408:exon9:c.1038+1G>C)	.	.	0.999985666489905	0.946
18	10762497	C	T	18	10762499	y	y	splicing	PIEZO2(NM_022068:exon22:c.3174+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3174+1G>A;ENST00000582913:exon23:c.3216+1G>A;ENST00000503781:exon22:c.3174+1G>A;ENST00000580640:exon24:c.3249+1G>A;ENST00000383408:exon9:c.1038+1G>A)	.	.	0.999985666489905	0.946
18	10762498	C	A	18	10762500	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.G3174T:p.R1058S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.G3249T:p.R1083S;ENSG00000154864:ENST00000582913:exon22:c.G3216T:p.R1072S;ENSG00000154864:ENST00000503781:exon21:c.G3174T:p.R1058S;ENSG00000154864:ENST00000383408:exon8:c.G1038T:p.R346S;ENSG00000154864:ENST00000302079:exon21:c.G3174T:p.R1058S;	0.999963458889241	1.0
18	10762498	C	G	18	10762500	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.G3174C:p.R1058S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.G3249C:p.R1083S;ENSG00000154864:ENST00000582913:exon22:c.G3216C:p.R1072S;ENSG00000154864:ENST00000503781:exon21:c.G3174C:p.R1058S;ENSG00000154864:ENST00000383408:exon8:c.G1038C:p.R346S;ENSG00000154864:ENST00000302079:exon21:c.G3174C:p.R1058S;	0.999986764428734	1.0
18	10762498	C	T	18	10762500	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon21:c.G3174A:p.R1058R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.G3249A:p.R1083R;ENSG00000154864:ENST00000582913:exon22:c.G3216A:p.R1072R;ENSG00000154864:ENST00000503781:exon21:c.G3174A:p.R1058R;ENSG00000154864:ENST00000383408:exon8:c.G1038A:p.R346R;ENSG00000154864:ENST00000302079:exon21:c.G3174A:p.R1058R;	0.999980332947636	1.0
18	10762499	C	A	18	10762501	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.G3173T:p.R1058M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.G3248T:p.R1083M;ENSG00000154864:ENST00000582913:exon22:c.G3215T:p.R1072M;ENSG00000154864:ENST00000503781:exon21:c.G3173T:p.R1058M;ENSG00000154864:ENST00000383408:exon8:c.G1037T:p.R346M;ENSG00000154864:ENST00000302079:exon21:c.G3173T:p.R1058M;	0.926386383842746	0.548
18	10762499	C	G	18	10762501	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.G3173C:p.R1058T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.G3248C:p.R1083T;ENSG00000154864:ENST00000582913:exon22:c.G3215C:p.R1072T;ENSG00000154864:ENST00000503781:exon21:c.G3173C:p.R1058T;ENSG00000154864:ENST00000383408:exon8:c.G1037C:p.R346T;ENSG00000154864:ENST00000302079:exon21:c.G3173C:p.R1058T;	0.827046026013545	0.536
18	10762499	C	T	18	10762501	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.G3173A:p.R1058K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.G3248A:p.R1083K;ENSG00000154864:ENST00000582913:exon22:c.G3215A:p.R1072K;ENSG00000154864:ENST00000503781:exon21:c.G3173A:p.R1058K;ENSG00000154864:ENST00000383408:exon8:c.G1037A:p.R346K;ENSG00000154864:ENST00000302079:exon21:c.G3173A:p.R1058K;	0.947908212632848	0.53
18	10762500	T	A	18	10762502	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.A3172T:p.R1058W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.A3247T:p.R1083W;ENSG00000154864:ENST00000582913:exon22:c.A3214T:p.R1072W;ENSG00000154864:ENST00000503781:exon21:c.A3172T:p.R1058W;ENSG00000154864:ENST00000383408:exon8:c.A1036T:p.R346W;ENSG00000154864:ENST00000302079:exon21:c.A3172T:p.R1058W;	0.104254380502005	0.34
18	10762500	T	C	18	10762502	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.A3172G:p.R1058G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.A3247G:p.R1083G;ENSG00000154864:ENST00000582913:exon22:c.A3214G:p.R1072G;ENSG00000154864:ENST00000503781:exon21:c.A3172G:p.R1058G;ENSG00000154864:ENST00000383408:exon8:c.A1036G:p.R346G;ENSG00000154864:ENST00000302079:exon21:c.A3172G:p.R1058G;	0.00760040979843739	0.102
18	10762500	T	G	18	10762502	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon21:c.A3172C:p.R1058R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.A3247C:p.R1083R;ENSG00000154864:ENST00000582913:exon22:c.A3214C:p.R1072R;ENSG00000154864:ENST00000503781:exon21:c.A3172C:p.R1058R;ENSG00000154864:ENST00000383408:exon8:c.A1036C:p.R346R;ENSG00000154864:ENST00000302079:exon21:c.A3172C:p.R1058R;	2.8626742586432E-4	0.002
18	10762622	G	A	18	10762624	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.C3050T:p.P1017L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.C3125T:p.P1042L;ENSG00000154864:ENST00000582913:exon22:c.C3092T:p.P1031L;ENSG00000154864:ENST00000503781:exon21:c.C3050T:p.P1017L;ENSG00000154864:ENST00000383408:exon8:c.C914T:p.P305L;ENSG00000154864:ENST00000302079:exon21:c.C3050T:p.P1017L;	0.00503168968000399	0.03
18	10762622	G	C	18	10762624	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.C3050G:p.P1017R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.C3125G:p.P1042R;ENSG00000154864:ENST00000582913:exon22:c.C3092G:p.P1031R;ENSG00000154864:ENST00000503781:exon21:c.C3050G:p.P1017R;ENSG00000154864:ENST00000383408:exon8:c.C914G:p.P305R;ENSG00000154864:ENST00000302079:exon21:c.C3050G:p.P1017R;	0.00441381812629161	0.028
18	10762622	G	T	18	10762624	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.C3050A:p.P1017Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.C3125A:p.P1042Q;ENSG00000154864:ENST00000582913:exon22:c.C3092A:p.P1031Q;ENSG00000154864:ENST00000503781:exon21:c.C3050A:p.P1017Q;ENSG00000154864:ENST00000383408:exon8:c.C914A:p.P305Q;ENSG00000154864:ENST00000302079:exon21:c.C3050A:p.P1017Q;	0.0088233079584556	0.048
18	10762623	G	A	18	10762625	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.C3049T:p.P1017S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.C3124T:p.P1042S;ENSG00000154864:ENST00000582913:exon22:c.C3091T:p.P1031S;ENSG00000154864:ENST00000503781:exon21:c.C3049T:p.P1017S;ENSG00000154864:ENST00000383408:exon8:c.C913T:p.P305S;ENSG00000154864:ENST00000302079:exon21:c.C3049T:p.P1017S;	0.0727585686902751	0.202
18	10762623	G	C	18	10762625	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.C3049G:p.P1017A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.C3124G:p.P1042A;ENSG00000154864:ENST00000582913:exon22:c.C3091G:p.P1031A;ENSG00000154864:ENST00000503781:exon21:c.C3049G:p.P1017A;ENSG00000154864:ENST00000383408:exon8:c.C913G:p.P305A;ENSG00000154864:ENST00000302079:exon21:c.C3049G:p.P1017A;	0.00250711745851119	0.044
18	10762623	G	T	18	10762625	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon21:c.C3049A:p.P1017T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon23:c.C3124A:p.P1042T;ENSG00000154864:ENST00000582913:exon22:c.C3091A:p.P1031T;ENSG00000154864:ENST00000503781:exon21:c.C3049A:p.P1017T;ENSG00000154864:ENST00000383408:exon8:c.C913A:p.P305T;ENSG00000154864:ENST00000302079:exon21:c.C3049A:p.P1017T;	0.00275266078260562	0.006
18	10762624	C	A	18	10762626	y	y	splicing	PIEZO2(NM_022068:exon22:c.3049-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3049-1G>T;ENST00000582913:exon23:c.3091-1G>T;ENST00000503781:exon22:c.3049-1G>T;ENST00000580640:exon24:c.3124-1G>T;ENST00000383408:exon9:c.913-1G>T)	.	.	0.999986675681007	0.936
18	10762624	C	G	18	10762626	y	y	splicing	PIEZO2(NM_022068:exon22:c.3049-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3049-1G>C;ENST00000582913:exon23:c.3091-1G>C;ENST00000503781:exon22:c.3049-1G>C;ENST00000580640:exon24:c.3124-1G>C;ENST00000383408:exon9:c.913-1G>C)	.	.	0.999986675681007	0.936
18	10762624	C	T	18	10762626	y	y	splicing	PIEZO2(NM_022068:exon22:c.3049-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3049-1G>A;ENST00000582913:exon23:c.3091-1G>A;ENST00000503781:exon22:c.3049-1G>A;ENST00000580640:exon24:c.3124-1G>A;ENST00000383408:exon9:c.913-1G>A)	.	.	0.999986675681007	0.936
18	10762625	T	A	18	10762627	y	y	splicing	PIEZO2(NM_022068:exon22:c.3049-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3049-2A>T;ENST00000582913:exon23:c.3091-2A>T;ENST00000503781:exon22:c.3049-2A>T;ENST00000580640:exon24:c.3124-2A>T;ENST00000383408:exon9:c.913-2A>T)	.	.	0.999989917668626	0.926
18	10762625	T	C	18	10762627	y	y	splicing	PIEZO2(NM_022068:exon22:c.3049-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3049-2A>G;ENST00000582913:exon23:c.3091-2A>G;ENST00000503781:exon22:c.3049-2A>G;ENST00000580640:exon24:c.3124-2A>G;ENST00000383408:exon9:c.913-2A>G)	.	.	0.999989917668626	0.926
18	10762625	T	G	18	10762627	y	y	splicing	PIEZO2(NM_022068:exon22:c.3049-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon22:c.3049-2A>C;ENST00000582913:exon23:c.3091-2A>C;ENST00000503781:exon22:c.3049-2A>C;ENST00000580640:exon24:c.3124-2A>C;ENST00000383408:exon9:c.913-2A>C)	.	.	0.999989917668626	0.926
18	10762626	A	C	18	10762628	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.953626273997057	0.712
18	10762626	A	G	18	10762628	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.07023810089296E-5	0.002
18	10762626	A	T	18	10762628	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00415292117640054	0.18
18	10762627	A	C	18	10762629	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.97304837892195E-5	0.0
18	10762627	A	G	18	10762629	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.02745357548663E-5	0.0
18	10762627	A	T	18	10762629	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.3998714630268E-4	0.0
18	10762628	A	C	18	10762630	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.924078902120386	0.698
18	10762628	A	G	18	10762630	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.103167771144452	0.412
18	10762628	A	T	18	10762630	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.892256987140764	0.748
18	10762629	A	C	18	10762631	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0135297086476758	0.184
18	10762629	A	G	18	10762631	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.05879690724186E-4	0.01
18	10762629	A	T	18	10762631	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0115292449658786	0.168
18	10762630	A	C	18	10762632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.18501681278708E-4	0.058
18	10762630	A	G	18	10762632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.38743208835504E-4	0.028
18	10762630	A	T	18	10762632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00202087363566743	0.056
18	10762631	G	A	18	10762633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.00105636573154E-4	0.002
18	10762631	G	C	18	10762633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00209378567770778	0.068
18	10762631	G	T	18	10762633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0142482876095075	0.084
18	10762632	A	C	18	10762634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0106627188039493	0.146
18	10762632	A	G	18	10762634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.80567854042616E-4	0.05
18	10762632	A	T	18	10762634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0137479216506828	0.232
18	10762633	A	C	18	10762635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.518194427605767	0.498
18	10762633	A	G	18	10762635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.117409681154487	0.39
18	10762633	A	T	18	10762635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.653974732985861	0.466
18	10762634	G	A	18	10762636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.31943024933416E-5	0.002
18	10762634	G	C	18	10762636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.80424193790623E-4	0.02
18	10762634	G	T	18	10762636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.76213286233583E-4	0.034
18	10762635	A	C	18	10762637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00151153295040381	0.122
18	10762635	A	G	18	10762637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.57868456050533E-4	0.016
18	10762635	A	T	18	10762637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00720802107176958	0.19
18	10762912	A	C	18	10762914	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00113809843861995	0.01
18	10762912	A	G	18	10762914	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.82868233706782E-4	0.004
18	10762912	A	T	18	10762914	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00210949873307393	0.01
18	10762913	G	A	18	10762915	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00224744010956349	0.026
18	10762913	G	C	18	10762915	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.8996475861303E-4	0.0
18	10762913	G	T	18	10762915	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.00059328443613E-4	0.0
18	10762914	G	A	18	10762916	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.66900540327976E-4	0.008
18	10762914	G	C	18	10762916	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.21782046553192E-4	0.058
18	10762914	G	T	18	10762916	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00102952936618769	0.072
18	10762915	C	A	18	10762917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999909666867671	0.99
18	10762915	C	G	18	10762917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999930193116838	0.966
18	10762915	C	T	18	10762917	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99994355803157	0.996
18	10762916	T	A	18	10762918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999315207003169	0.924
18	10762916	T	C	18	10762918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998727506873664	0.902
18	10762916	T	G	18	10762918	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99786461777601	0.914
18	10762917	C	A	18	10762919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999816073598328	0.836
18	10762917	C	G	18	10762919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998885541809047	0.83
18	10762917	C	T	18	10762919	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00513511056991497	0.038
18	10762918	A	C	18	10762920	y	y	splicing	PIEZO2(NM_022068:exon21:c.3048+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.3048+2T>G;ENST00000582913:exon22:c.3090+2T>G;ENST00000503781:exon21:c.3048+2T>G;ENST00000580640:exon23:c.3123+2T>G;ENST00000383408:exon8:c.912+2T>G)	.	.	0.999989917668626	0.928
18	10762918	A	G	18	10762920	y	y	splicing	PIEZO2(NM_022068:exon21:c.3048+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.3048+2T>C;ENST00000582913:exon22:c.3090+2T>C;ENST00000503781:exon21:c.3048+2T>C;ENST00000580640:exon23:c.3123+2T>C;ENST00000383408:exon8:c.912+2T>C)	.	.	0.999980522010335	0.928
18	10762918	A	T	18	10762920	y	y	splicing	PIEZO2(NM_022068:exon21:c.3048+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.3048+2T>A;ENST00000582913:exon22:c.3090+2T>A;ENST00000503781:exon21:c.3048+2T>A;ENST00000580640:exon23:c.3123+2T>A;ENST00000383408:exon8:c.912+2T>A)	.	.	0.999989917668626	0.928
18	10762919	C	A	18	10762921	y	y	splicing	PIEZO2(NM_022068:exon21:c.3048+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.3048+1G>T;ENST00000582913:exon22:c.3090+1G>T;ENST00000503781:exon21:c.3048+1G>T;ENST00000580640:exon23:c.3123+1G>T;ENST00000383408:exon8:c.912+1G>T)	.	.	0.999986675681007	0.934
18	10762919	C	G	18	10762921	y	y	splicing	PIEZO2(NM_022068:exon21:c.3048+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.3048+1G>C;ENST00000582913:exon22:c.3090+1G>C;ENST00000503781:exon21:c.3048+1G>C;ENST00000580640:exon23:c.3123+1G>C;ENST00000383408:exon8:c.912+1G>C)	.	.	0.999986675681007	0.934
18	10762919	C	T	18	10762921	y	y	splicing	PIEZO2(NM_022068:exon21:c.3048+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.3048+1G>A;ENST00000582913:exon22:c.3090+1G>A;ENST00000503781:exon21:c.3048+1G>A;ENST00000580640:exon23:c.3123+1G>A;ENST00000383408:exon8:c.912+1G>A)	.	.	0.999986675681007	0.934
18	10762920	C	A	18	10762922	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.G3048T:p.L1016F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.G3123T:p.L1041F;ENSG00000154864:ENST00000582913:exon21:c.G3090T:p.L1030F;ENSG00000154864:ENST00000503781:exon20:c.G3048T:p.L1016F;ENSG00000154864:ENST00000383408:exon7:c.G912T:p.L304F;ENSG00000154864:ENST00000302079:exon20:c.G3048T:p.L1016F;	0.999866806820974	0.97
18	10762920	C	G	18	10762922	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.G3048C:p.L1016F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.G3123C:p.L1041F;ENSG00000154864:ENST00000582913:exon21:c.G3090C:p.L1030F;ENSG00000154864:ENST00000503781:exon20:c.G3048C:p.L1016F;ENSG00000154864:ENST00000383408:exon7:c.G912C:p.L304F;ENSG00000154864:ENST00000302079:exon20:c.G3048C:p.L1016F;	0.999937445039022	0.944
18	10762920	C	T	18	10762922	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon20:c.G3048A:p.L1016L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.G3123A:p.L1041L;ENSG00000154864:ENST00000582913:exon21:c.G3090A:p.L1030L;ENSG00000154864:ENST00000503781:exon20:c.G3048A:p.L1016L;ENSG00000154864:ENST00000383408:exon7:c.G912A:p.L304L;ENSG00000154864:ENST00000302079:exon20:c.G3048A:p.L1016L;	0.999946217864684	1.0
18	10762921	A	C	18	10762923	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.T3047G:p.L1016W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.T3122G:p.L1041W;ENSG00000154864:ENST00000582913:exon21:c.T3089G:p.L1030W;ENSG00000154864:ENST00000503781:exon20:c.T3047G:p.L1016W;ENSG00000154864:ENST00000383408:exon7:c.T911G:p.L304W;ENSG00000154864:ENST00000302079:exon20:c.T3047G:p.L1016W;	0.00303313855250399	0.114
18	10762921	A	G	18	10762923	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.T3047C:p.L1016S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.T3122C:p.L1041S;ENSG00000154864:ENST00000582913:exon21:c.T3089C:p.L1030S;ENSG00000154864:ENST00000503781:exon20:c.T3047C:p.L1016S;ENSG00000154864:ENST00000383408:exon7:c.T911C:p.L304S;ENSG00000154864:ENST00000302079:exon20:c.T3047C:p.L1016S;	0.0220387957829694	0.19
18	10762921	A	T	18	10762923	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon20:c.T3047A:p.L1016X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon22:c.T3122A:p.L1041X;ENSG00000154864:ENST00000582913:exon21:c.T3089A:p.L1030X;ENSG00000154864:ENST00000503781:exon20:c.T3047A:p.L1016X;ENSG00000154864:ENST00000383408:exon7:c.T911A:p.L304X;ENSG00000154864:ENST00000302079:exon20:c.T3047A:p.L1016X;	0.579175067023529	0.654
18	10762922	A	C	18	10762924	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.T3046G:p.L1016V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.T3121G:p.L1041V;ENSG00000154864:ENST00000582913:exon21:c.T3088G:p.L1030V;ENSG00000154864:ENST00000503781:exon20:c.T3046G:p.L1016V;ENSG00000154864:ENST00000383408:exon7:c.T910G:p.L304V;ENSG00000154864:ENST00000302079:exon20:c.T3046G:p.L1016V;	6.44050613014124E-4	0.052
18	10762922	A	G	18	10762924	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon20:c.T3046C:p.L1016L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.T3121C:p.L1041L;ENSG00000154864:ENST00000582913:exon21:c.T3088C:p.L1030L;ENSG00000154864:ENST00000503781:exon20:c.T3046C:p.L1016L;ENSG00000154864:ENST00000383408:exon7:c.T910C:p.L304L;ENSG00000154864:ENST00000302079:exon20:c.T3046C:p.L1016L;	4.39994693579067E-4	0.0
18	10762922	A	T	18	10762924	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.T3046A:p.L1016M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.T3121A:p.L1041M;ENSG00000154864:ENST00000582913:exon21:c.T3088A:p.L1030M;ENSG00000154864:ENST00000503781:exon20:c.T3046A:p.L1016M;ENSG00000154864:ENST00000383408:exon7:c.T910A:p.L304M;ENSG00000154864:ENST00000302079:exon20:c.T3046A:p.L1016M;	4.33472543977261E-4	0.054
18	10763095	A	C	18	10763097	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.T2873G:p.V958G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.T2948G:p.V983G;ENSG00000154864:ENST00000582913:exon21:c.T2915G:p.V972G;ENSG00000154864:ENST00000503781:exon20:c.T2873G:p.V958G;ENSG00000154864:ENST00000383408:exon7:c.T737G:p.V246G;ENSG00000154864:ENST00000302079:exon20:c.T2873G:p.V958G;	0.0160556154407948	0.22
18	10763095	A	G	18	10763097	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.T2873C:p.V958A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.T2948C:p.V983A;ENSG00000154864:ENST00000582913:exon21:c.T2915C:p.V972A;ENSG00000154864:ENST00000503781:exon20:c.T2873C:p.V958A;ENSG00000154864:ENST00000383408:exon7:c.T737C:p.V246A;ENSG00000154864:ENST00000302079:exon20:c.T2873C:p.V958A;	0.090578059312262	0.368
18	10763095	A	T	18	10763097	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.T2873A:p.V958E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.T2948A:p.V983E;ENSG00000154864:ENST00000582913:exon21:c.T2915A:p.V972E;ENSG00000154864:ENST00000503781:exon20:c.T2873A:p.V958E;ENSG00000154864:ENST00000383408:exon7:c.T737A:p.V246E;ENSG00000154864:ENST00000302079:exon20:c.T2873A:p.V958E;	0.0682142663095044	0.362
18	10763096	C	A	18	10763098	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.G2872T:p.V958L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.G2947T:p.V983L;ENSG00000154864:ENST00000582913:exon21:c.G2914T:p.V972L;ENSG00000154864:ENST00000503781:exon20:c.G2872T:p.V958L;ENSG00000154864:ENST00000383408:exon7:c.G736T:p.V246L;ENSG00000154864:ENST00000302079:exon20:c.G2872T:p.V958L;	0.999623828430984	0.98
18	10763096	C	G	18	10763098	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.G2872C:p.V958L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.G2947C:p.V983L;ENSG00000154864:ENST00000582913:exon21:c.G2914C:p.V972L;ENSG00000154864:ENST00000503781:exon20:c.G2872C:p.V958L;ENSG00000154864:ENST00000383408:exon7:c.G736C:p.V246L;ENSG00000154864:ENST00000302079:exon20:c.G2872C:p.V958L;	0.998938975828321	0.97
18	10763096	C	T	18	10763098	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon20:c.G2872A:p.V958M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon22:c.G2947A:p.V983M;ENSG00000154864:ENST00000582913:exon21:c.G2914A:p.V972M;ENSG00000154864:ENST00000503781:exon20:c.G2872A:p.V958M;ENSG00000154864:ENST00000383408:exon7:c.G736A:p.V246M;ENSG00000154864:ENST00000302079:exon20:c.G2872A:p.V958M;	0.998415795311734	0.794
18	10763097	C	A	18	10763099	y	y	splicing	PIEZO2(NM_022068:exon21:c.2872-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.2872-1G>T;ENST00000582913:exon22:c.2914-1G>T;ENST00000503781:exon21:c.2872-1G>T;ENST00000580640:exon23:c.2947-1G>T;ENST00000383408:exon8:c.736-1G>T)	.	.	0.999986675681007	0.94
18	10763097	C	G	18	10763099	y	y	splicing	PIEZO2(NM_022068:exon21:c.2872-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.2872-1G>C;ENST00000582913:exon22:c.2914-1G>C;ENST00000503781:exon21:c.2872-1G>C;ENST00000580640:exon23:c.2947-1G>C;ENST00000383408:exon8:c.736-1G>C)	.	.	0.999986675681007	0.94
18	10763097	C	T	18	10763099	y	y	splicing	PIEZO2(NM_022068:exon21:c.2872-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.2872-1G>A;ENST00000582913:exon22:c.2914-1G>A;ENST00000503781:exon21:c.2872-1G>A;ENST00000580640:exon23:c.2947-1G>A;ENST00000383408:exon8:c.736-1G>A)	.	.	0.999986675681007	0.94
18	10763098	T	A	18	10763100	y	y	splicing	PIEZO2(NM_022068:exon21:c.2872-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.2872-2A>T;ENST00000582913:exon22:c.2914-2A>T;ENST00000503781:exon21:c.2872-2A>T;ENST00000580640:exon23:c.2947-2A>T;ENST00000383408:exon8:c.736-2A>T)	.	.	0.999989917668626	0.928
18	10763098	T	C	18	10763100	y	y	splicing	PIEZO2(NM_022068:exon21:c.2872-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.2872-2A>G;ENST00000582913:exon22:c.2914-2A>G;ENST00000503781:exon21:c.2872-2A>G;ENST00000580640:exon23:c.2947-2A>G;ENST00000383408:exon8:c.736-2A>G)	.	.	0.999989917668626	0.928
18	10763098	T	G	18	10763100	y	y	splicing	PIEZO2(NM_022068:exon21:c.2872-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon21:c.2872-2A>C;ENST00000582913:exon22:c.2914-2A>C;ENST00000503781:exon21:c.2872-2A>C;ENST00000580640:exon23:c.2947-2A>C;ENST00000383408:exon8:c.736-2A>C)	.	.	0.999989917668626	0.928
18	10763099	G	A	18	10763101	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00824739129741208	0.086
18	10763099	G	C	18	10763101	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999083736301606	0.916
18	10763099	G	T	18	10763101	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.159936659461433	0.504
18	10763100	A	C	18	10763102	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.94807576050428E-4	0.048
18	10763100	A	G	18	10763102	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.69885713793147E-4	0.034
18	10763100	A	T	18	10763102	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00124071625786114	0.048
18	10763101	A	C	18	10763103	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.950327059768613	0.69
18	10763101	A	G	18	10763103	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00201461082084292	0.048
18	10763101	A	T	18	10763103	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.847864350807611	0.694
18	10763102	A	C	18	10763104	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.351680192054385	0.548
18	10763102	A	G	18	10763104	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.60771916858506E-4	0.01
18	10763102	A	T	18	10763104	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.474081738511874	0.594
18	10763103	A	C	18	10763105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.950172152007556	0.642
18	10763103	A	G	18	10763105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00195484647411049	0.176
18	10763103	A	T	18	10763105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.981808394955209	0.722
18	10763104	C	A	18	10763106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.98664046042059E-4	0.0
18	10763104	C	G	18	10763106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.71734080466058E-4	0.002
18	10763104	C	T	18	10763106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.21981396499561E-4	0.01
18	10763105	G	A	18	10763107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.99902290419931E-5	0.006
18	10763105	G	C	18	10763107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997942265371841	0.988
18	10763105	G	T	18	10763107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999481721609701	0.99
18	10763106	T	A	18	10763108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.66545267246956E-5	0.002
18	10763106	T	C	18	10763108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.61181711739744E-5	0.0
18	10763106	T	G	18	10763108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.27660410520622E-5	0.0
18	10763107	A	C	18	10763109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.782502119349329	0.592
18	10763107	A	G	18	10763109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00548358986405845	0.128
18	10763107	A	T	18	10763109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.970810535276963	0.73
18	10763108	A	C	18	10763110	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0105840170961646	0.24
18	10763108	A	G	18	10763110	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.11911257293505E-5	0.048
18	10763108	A	T	18	10763110	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0264370022351159	0.268
18	10770305	G	A	18	10770307	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon19:c.C2712T:p.D904D;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon21:c.C2787T:p.D929D;ENSG00000154864:ENST00000582913:exon20:c.C2754T:p.D918D;ENSG00000154864:ENST00000503781:exon19:c.C2712T:p.D904D;ENSG00000154864:ENST00000383408:exon6:c.C576T:p.D192D;ENSG00000154864:ENST00000302079:exon19:c.C2712T:p.D904D;	2.1957974769457E-5	0.0
18	10770305	G	C	18	10770307	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon19:c.C2712G:p.D904E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon21:c.C2787G:p.D929E;ENSG00000154864:ENST00000582913:exon20:c.C2754G:p.D918E;ENSG00000154864:ENST00000503781:exon19:c.C2712G:p.D904E;ENSG00000154864:ENST00000383408:exon6:c.C576G:p.D192E;ENSG00000154864:ENST00000302079:exon19:c.C2712G:p.D904E;	1.3312090053215E-4	0.006
18	10770305	G	T	18	10770307	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon19:c.C2712A:p.D904E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon21:c.C2787A:p.D929E;ENSG00000154864:ENST00000582913:exon20:c.C2754A:p.D918E;ENSG00000154864:ENST00000503781:exon19:c.C2712A:p.D904E;ENSG00000154864:ENST00000383408:exon6:c.C576A:p.D192E;ENSG00000154864:ENST00000302079:exon19:c.C2712A:p.D904E;	1.7964206758865E-4	0.022
18	10770306	T	A	18	10770308	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon19:c.A2711T:p.D904V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon21:c.A2786T:p.D929V;ENSG00000154864:ENST00000582913:exon20:c.A2753T:p.D918V;ENSG00000154864:ENST00000503781:exon19:c.A2711T:p.D904V;ENSG00000154864:ENST00000383408:exon6:c.A575T:p.D192V;ENSG00000154864:ENST00000302079:exon19:c.A2711T:p.D904V;	0.0335582616782172	0.24
18	10770306	T	C	18	10770308	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon19:c.A2711G:p.D904G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon21:c.A2786G:p.D929G;ENSG00000154864:ENST00000582913:exon20:c.A2753G:p.D918G;ENSG00000154864:ENST00000503781:exon19:c.A2711G:p.D904G;ENSG00000154864:ENST00000383408:exon6:c.A575G:p.D192G;ENSG00000154864:ENST00000302079:exon19:c.A2711G:p.D904G;	0.0189564600322605	0.228
18	10770306	T	G	18	10770308	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon19:c.A2711C:p.D904A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon21:c.A2786C:p.D929A;ENSG00000154864:ENST00000582913:exon20:c.A2753C:p.D918A;ENSG00000154864:ENST00000503781:exon19:c.A2711C:p.D904A;ENSG00000154864:ENST00000383408:exon6:c.A575C:p.D192A;ENSG00000154864:ENST00000302079:exon19:c.A2711C:p.D904A;	0.0243917077121961	0.226
18	10770307	C	A	18	10770309	y	y	splicing	PIEZO2(NM_022068:exon20:c.2711-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon20:c.2711-1G>T;ENST00000582913:exon21:c.2753-1G>T;ENST00000503781:exon20:c.2711-1G>T;ENST00000580640:exon22:c.2786-1G>T;ENST00000383408:exon7:c.575-1G>T)	.	.	0.999985532734767	0.934
18	10770307	C	G	18	10770309	y	y	splicing	PIEZO2(NM_022068:exon20:c.2711-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon20:c.2711-1G>C;ENST00000582913:exon21:c.2753-1G>C;ENST00000503781:exon20:c.2711-1G>C;ENST00000580640:exon22:c.2786-1G>C;ENST00000383408:exon7:c.575-1G>C)	.	.	0.999985532734767	0.934
18	10770307	C	T	18	10770309	y	y	splicing	PIEZO2(NM_022068:exon20:c.2711-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon20:c.2711-1G>A;ENST00000582913:exon21:c.2753-1G>A;ENST00000503781:exon20:c.2711-1G>A;ENST00000580640:exon22:c.2786-1G>A;ENST00000383408:exon7:c.575-1G>A)	.	.	0.999985532734767	0.934
18	10770308	T	A	18	10770310	y	y	splicing	PIEZO2(NM_022068:exon20:c.2711-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon20:c.2711-2A>T;ENST00000582913:exon21:c.2753-2A>T;ENST00000503781:exon20:c.2711-2A>T;ENST00000580640:exon22:c.2786-2A>T;ENST00000383408:exon7:c.575-2A>T)	.	.	0.999988247793601	0.928
18	10770308	T	C	18	10770310	y	y	splicing	PIEZO2(NM_022068:exon20:c.2711-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon20:c.2711-2A>G;ENST00000582913:exon21:c.2753-2A>G;ENST00000503781:exon20:c.2711-2A>G;ENST00000580640:exon22:c.2786-2A>G;ENST00000383408:exon7:c.575-2A>G)	.	.	0.999988247793601	0.926
18	10770308	T	G	18	10770310	y	y	splicing	PIEZO2(NM_022068:exon20:c.2711-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon20:c.2711-2A>C;ENST00000582913:exon21:c.2753-2A>C;ENST00000503781:exon20:c.2711-2A>C;ENST00000580640:exon22:c.2786-2A>C;ENST00000383408:exon7:c.575-2A>C)	.	.	0.999988247793601	0.928
18	10770309	G	A	18	10770311	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.633283907978798	0.368
18	10770309	G	C	18	10770311	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999945758896348	0.974
18	10770309	G	T	18	10770311	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999743119174766	0.93
18	10770310	C	A	18	10770312	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00156167928567518	0.014
18	10770310	C	G	18	10770312	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.04097450493585E-4	0.05
18	10770310	C	T	18	10770312	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.48701937966446E-4	0.034
18	10770311	A	C	18	10770313	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.724502612623229	0.516
18	10770311	A	G	18	10770313	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00354701088748698	0.032
18	10770311	A	T	18	10770313	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999108212580472	0.886
18	10770312	A	C	18	10770314	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0348278652438478	0.172
18	10770312	A	G	18	10770314	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.27431145040238E-4	0.004
18	10770312	A	T	18	10770314	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.027888651369702	0.182
18	10770313	A	C	18	10770315	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.96162126062975E-4	0.042
18	10770313	A	G	18	10770315	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.56700078135125E-5	0.0
18	10770313	A	T	18	10770315	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.23905912272808E-4	0.036
18	10770314	A	C	18	10770316	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999806756928843	0.986
18	10770314	A	G	18	10770316	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.37577339255942E-5	0.002
18	10770314	A	T	18	10770316	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00474445554610701	0.094
18	10770315	T	A	18	10770317	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.87918371151799E-5	0.0
18	10770315	T	C	18	10770317	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.15666961700038E-5	0.0
18	10770315	T	G	18	10770317	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.16079385940103E-5	0.0
18	10770316	A	C	18	10770318	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.72357896899229	0.404
18	10770316	A	G	18	10770318	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00480788795865723	0.078
18	10770316	A	T	18	10770318	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.6422112111132	0.434
18	10770317	G	A	18	10770319	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00117046245136617	0.034
18	10770317	G	C	18	10770319	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00240857082352481	0.088
18	10770317	G	T	18	10770319	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0121457972643669	0.208
18	10770318	G	A	18	10770320	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.56227402875007E-5	0.0
18	10770318	G	C	18	10770320	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.0034405519742E-5	0.002
18	10770318	G	T	18	10770320	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.51560243303413E-4	0.01
18	10773402	C	A	18	10773404	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.4887794681632E-5	0.0
18	10773402	C	G	18	10773404	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.37682852590761E-5	0.0
18	10773402	C	T	18	10773404	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.4887794681632E-5	0.0
18	10773403	T	A	18	10773405	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.69952080340655E-4	0.0
18	10773403	T	C	18	10773405	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.95947926179012E-4	0.0
18	10773403	T	G	18	10773405	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.1447758801122E-5	0.0
18	10773404	G	A	18	10773406	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.65096955710674E-5	0.006
18	10773404	G	C	18	10773406	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.90555054018829E-5	0.006
18	10773404	G	T	18	10773406	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.42979735212517E-4	0.006
18	10773405	A	C	18	10773407	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.76478225998935E-5	0.036
18	10773405	A	G	18	10773407	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.18009924193924E-5	0.03
18	10773405	A	T	18	10773407	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.05936935124912E-5	0.04
18	10773406	T	A	18	10773408	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.209623714622264	0.332
18	10773406	T	C	18	10773408	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.432349748852687	0.508
18	10773406	T	G	18	10773408	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.141438326560905	0.404
18	10773407	T	A	18	10773409	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999946195278086	0.974
18	10773407	T	C	18	10773409	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999148649215758	0.912
18	10773407	T	G	18	10773409	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999970858236073	0.94
18	10773408	A	C	18	10773410	y	y	splicing	PIEZO2(NM_022068:exon19:c.2710+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2710+2T>G;ENST00000582913:exon20:c.2752+2T>G;ENST00000503781:exon19:c.2710+2T>G;ENST00000580640:exon21:c.2785+2T>G;ENST00000383408:exon6:c.574+2T>G)	.	.	0.99994568797423	0.944
18	10773408	A	G	18	10773410	y	y	splicing	PIEZO2(NM_022068:exon19:c.2710+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2710+2T>C;ENST00000582913:exon20:c.2752+2T>C;ENST00000503781:exon19:c.2710+2T>C;ENST00000580640:exon21:c.2785+2T>C;ENST00000383408:exon6:c.574+2T>C)	.	.	0.961316586553648	0.64
18	10773408	A	T	18	10773410	y	y	splicing	PIEZO2(NM_022068:exon19:c.2710+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2710+2T>A;ENST00000582913:exon20:c.2752+2T>A;ENST00000503781:exon19:c.2710+2T>A;ENST00000580640:exon21:c.2785+2T>A;ENST00000383408:exon6:c.574+2T>A)	.	.	0.99994568797423	0.944
18	10773409	C	A	18	10773411	y	y	splicing	PIEZO2(NM_022068:exon19:c.2710+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2710+1G>T;ENST00000582913:exon20:c.2752+1G>T;ENST00000503781:exon19:c.2710+1G>T;ENST00000580640:exon21:c.2785+1G>T;ENST00000383408:exon6:c.574+1G>T)	.	.	0.999986675681007	0.94
18	10773409	C	G	18	10773411	y	y	splicing	PIEZO2(NM_022068:exon19:c.2710+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2710+1G>C;ENST00000582913:exon20:c.2752+1G>C;ENST00000503781:exon19:c.2710+1G>C;ENST00000580640:exon21:c.2785+1G>C;ENST00000383408:exon6:c.574+1G>C)	.	.	0.999986675681007	0.94
18	10773409	C	T	18	10773411	y	y	splicing	PIEZO2(NM_022068:exon19:c.2710+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2710+1G>A;ENST00000582913:exon20:c.2752+1G>A;ENST00000503781:exon19:c.2710+1G>A;ENST00000580640:exon21:c.2785+1G>A;ENST00000383408:exon6:c.574+1G>A)	.	.	0.999986675681007	0.94
18	10773410	C	A	18	10773412	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.G2710T:p.D904Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.G2785T:p.D929Y;ENSG00000154864:ENST00000582913:exon19:c.G2752T:p.D918Y;ENSG00000154864:ENST00000503781:exon18:c.G2710T:p.D904Y;ENSG00000154864:ENST00000383408:exon5:c.G574T:p.D192Y;ENSG00000154864:ENST00000302079:exon18:c.G2710T:p.D904Y;	0.999977363367001	0.984
18	10773410	C	G	18	10773412	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.G2710C:p.D904H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.G2785C:p.D929H;ENSG00000154864:ENST00000582913:exon19:c.G2752C:p.D918H;ENSG00000154864:ENST00000503781:exon18:c.G2710C:p.D904H;ENSG00000154864:ENST00000383408:exon5:c.G574C:p.D192H;ENSG00000154864:ENST00000302079:exon18:c.G2710C:p.D904H;	0.999995826891793	0.992
18	10773410	C	T	18	10773412	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.G2710A:p.D904N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.G2785A:p.D929N;ENSG00000154864:ENST00000582913:exon19:c.G2752A:p.D918N;ENSG00000154864:ENST00000503781:exon18:c.G2710A:p.D904N;ENSG00000154864:ENST00000383408:exon5:c.G574A:p.D192N;ENSG00000154864:ENST00000302079:exon18:c.G2710A:p.D904N;	0.99998530630685	1.0
18	10773411	T	A	18	10773413	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon18:c.A2709T:p.S903S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.A2784T:p.S928S;ENSG00000154864:ENST00000582913:exon19:c.A2751T:p.S917S;ENSG00000154864:ENST00000503781:exon18:c.A2709T:p.S903S;ENSG00000154864:ENST00000383408:exon5:c.A573T:p.S191S;ENSG00000154864:ENST00000302079:exon18:c.A2709T:p.S903S;	0.997578173803405	0.92
18	10773411	T	C	18	10773413	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon18:c.A2709G:p.S903S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.A2784G:p.S928S;ENSG00000154864:ENST00000582913:exon19:c.A2751G:p.S917S;ENSG00000154864:ENST00000503781:exon18:c.A2709G:p.S903S;ENSG00000154864:ENST00000383408:exon5:c.A573G:p.S191S;ENSG00000154864:ENST00000302079:exon18:c.A2709G:p.S903S;	0.992591141021926	0.844
18	10773411	T	G	18	10773413	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon18:c.A2709C:p.S903S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.A2784C:p.S928S;ENSG00000154864:ENST00000582913:exon19:c.A2751C:p.S917S;ENSG00000154864:ENST00000503781:exon18:c.A2709C:p.S903S;ENSG00000154864:ENST00000383408:exon5:c.A573C:p.S191S;ENSG00000154864:ENST00000302079:exon18:c.A2709C:p.S903S;	0.982543887494919	0.804
18	10773412	G	A	18	10773414	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.C2708T:p.S903L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.C2783T:p.S928L;ENSG00000154864:ENST00000582913:exon19:c.C2750T:p.S917L;ENSG00000154864:ENST00000503781:exon18:c.C2708T:p.S903L;ENSG00000154864:ENST00000383408:exon5:c.C572T:p.S191L;ENSG00000154864:ENST00000302079:exon18:c.C2708T:p.S903L;	0.997751558305515	0.814
18	10773412	G	C	18	10773414	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon18:c.C2708G:p.S903X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon20:c.C2783G:p.S928X;ENSG00000154864:ENST00000582913:exon19:c.C2750G:p.S917X;ENSG00000154864:ENST00000503781:exon18:c.C2708G:p.S903X;ENSG00000154864:ENST00000383408:exon5:c.C572G:p.S191X;ENSG00000154864:ENST00000302079:exon18:c.C2708G:p.S903X;	0.891033988265007	0.64
18	10773412	G	T	18	10773414	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon18:c.C2708A:p.S903X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon20:c.C2783A:p.S928X;ENSG00000154864:ENST00000582913:exon19:c.C2750A:p.S917X;ENSG00000154864:ENST00000503781:exon18:c.C2708A:p.S903X;ENSG00000154864:ENST00000383408:exon5:c.C572A:p.S191X;ENSG00000154864:ENST00000302079:exon18:c.C2708A:p.S903X;	0.958431045808368	0.85
18	10773626	G	A	18	10773628	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon18:c.C2494T:p.L832L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.C2569T:p.L857L;ENSG00000154864:ENST00000582913:exon19:c.C2536T:p.L846L;ENSG00000154864:ENST00000503781:exon18:c.C2494T:p.L832L;ENSG00000154864:ENST00000583325:exon6:c.C481T:p.L161L;ENSG00000154864:ENST00000383408:exon5:c.C358T:p.L120L;ENSG00000154864:ENST00000302079:exon18:c.C2494T:p.L832L;	6.76820526708489E-5	0.002
18	10773626	G	C	18	10773628	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.C2494G:p.L832V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.C2569G:p.L857V;ENSG00000154864:ENST00000582913:exon19:c.C2536G:p.L846V;ENSG00000154864:ENST00000503781:exon18:c.C2494G:p.L832V;ENSG00000154864:ENST00000583325:exon6:c.C481G:p.L161V;ENSG00000154864:ENST00000383408:exon5:c.C358G:p.L120V;ENSG00000154864:ENST00000302079:exon18:c.C2494G:p.L832V;	8.02507998081402E-5	0.016
18	10773626	G	T	18	10773628	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.C2494A:p.L832M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.C2569A:p.L857M;ENSG00000154864:ENST00000582913:exon19:c.C2536A:p.L846M;ENSG00000154864:ENST00000503781:exon18:c.C2494A:p.L832M;ENSG00000154864:ENST00000583325:exon6:c.C481A:p.L161M;ENSG00000154864:ENST00000383408:exon5:c.C358A:p.L120M;ENSG00000154864:ENST00000302079:exon18:c.C2494A:p.L832M;	9.14300835933108E-5	0.004
18	10773627	T	A	18	10773629	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.A2493T:p.R831S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.A2568T:p.E856D;ENSG00000154864:ENST00000582913:exon19:c.A2535T:p.R845S;ENSG00000154864:ENST00000503781:exon18:c.A2493T:p.R831S;ENSG00000154864:ENST00000583325:exon6:c.A480T:p.R160S;ENSG00000154864:ENST00000383408:exon5:c.A357T:p.E119D;ENSG00000154864:ENST00000302079:exon18:c.A2493T:p.R831S;	0.00185798338132764	0.162
18	10773627	T	C	18	10773629	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon18:c.A2493G:p.R831R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.A2568G:p.E856E;ENSG00000154864:ENST00000582913:exon19:c.A2535G:p.R845R;ENSG00000154864:ENST00000503781:exon18:c.A2493G:p.R831R;ENSG00000154864:ENST00000583325:exon6:c.A480G:p.R160R;ENSG00000154864:ENST00000383408:exon5:c.A357G:p.E119E;ENSG00000154864:ENST00000302079:exon18:c.A2493G:p.R831R;	2.0208761446232E-5	0.0
18	10773627	T	G	18	10773629	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.A2493C:p.R831S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon20:c.A2568C:p.E856D;ENSG00000154864:ENST00000582913:exon19:c.A2535C:p.R845S;ENSG00000154864:ENST00000503781:exon18:c.A2493C:p.R831S;ENSG00000154864:ENST00000583325:exon6:c.A480C:p.R160S;ENSG00000154864:ENST00000383408:exon5:c.A357C:p.E119D;ENSG00000154864:ENST00000302079:exon18:c.A2493C:p.R831S;	0.00105992877456682	0.122
18	10773628	C	A	18	10773630	y	y	splicing	PIEZO2(NM_022068:exon19:c.2493-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2493-1G>T;ENST00000582913:exon20:c.2535-1G>T;ENST00000503781:exon19:c.2493-1G>T;ENST00000580640:exon21:c.2568-1G>T;ENST00000383408:exon6:c.357-1G>T;ENST00000583325:exon7:c.480-1G>T)	.	.	0.999986675681007	0.942
18	10773628	C	G	18	10773630	y	y	splicing	PIEZO2(NM_022068:exon19:c.2493-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2493-1G>C;ENST00000582913:exon20:c.2535-1G>C;ENST00000503781:exon19:c.2493-1G>C;ENST00000580640:exon21:c.2568-1G>C;ENST00000383408:exon6:c.357-1G>C;ENST00000583325:exon7:c.480-1G>C)	.	.	0.999986675681007	0.942
18	10773628	C	T	18	10773630	y	y	splicing	PIEZO2(NM_022068:exon19:c.2493-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2493-1G>A;ENST00000582913:exon20:c.2535-1G>A;ENST00000503781:exon19:c.2493-1G>A;ENST00000580640:exon21:c.2568-1G>A;ENST00000383408:exon6:c.357-1G>A;ENST00000583325:exon7:c.480-1G>A)	.	.	0.999986675681007	0.942
18	10773629	T	A	18	10773631	y	y	splicing	PIEZO2(NM_022068:exon19:c.2493-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2493-2A>T;ENST00000582913:exon20:c.2535-2A>T;ENST00000503781:exon19:c.2493-2A>T;ENST00000580640:exon21:c.2568-2A>T;ENST00000383408:exon6:c.357-2A>T;ENST00000583325:exon7:c.480-2A>T)	.	.	0.999988247793601	0.944
18	10773629	T	C	18	10773631	y	y	splicing	PIEZO2(NM_022068:exon19:c.2493-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2493-2A>G;ENST00000582913:exon20:c.2535-2A>G;ENST00000503781:exon19:c.2493-2A>G;ENST00000580640:exon21:c.2568-2A>G;ENST00000383408:exon6:c.357-2A>G;ENST00000583325:exon7:c.480-2A>G)	.	.	0.999988247793601	0.944
18	10773629	T	G	18	10773631	y	y	splicing	PIEZO2(NM_022068:exon19:c.2493-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon19:c.2493-2A>C;ENST00000582913:exon20:c.2535-2A>C;ENST00000503781:exon19:c.2493-2A>C;ENST00000580640:exon21:c.2568-2A>C;ENST00000383408:exon6:c.357-2A>C;ENST00000583325:exon7:c.480-2A>C)	.	.	0.999988247793601	0.944
18	10773630	G	A	18	10773632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993554547305736	0.448
18	10773630	G	C	18	10773632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999945669591043	0.99
18	10773630	G	T	18	10773632	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999837698417216	0.982
18	10773631	T	A	18	10773633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0134145836237004	0.126
18	10773631	T	C	18	10773633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.988799477137054	0.736
18	10773631	T	G	18	10773633	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.37271362009636E-4	0.078
18	10773632	T	A	18	10773634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.92349696890949E-5	0.026
18	10773632	T	C	18	10773634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.05796260787164E-4	0.018
18	10773632	T	G	18	10773634	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.94716448720466E-4	0.012
18	10773633	G	A	18	10773635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0223069826421526	0.2
18	10773633	G	C	18	10773635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.701435963565667	0.596
18	10773633	G	T	18	10773635	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.65976689219022	0.552
18	10773634	G	A	18	10773636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.485142433995395	0.526
18	10773634	G	C	18	10773636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.979042382884931	0.722
18	10773634	G	T	18	10773636	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.988530536941333	0.77
18	10773635	C	A	18	10773637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.9855853194681E-4	0.088
18	10773635	C	G	18	10773637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.37010539496867E-4	0.144
18	10773635	C	T	18	10773637	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00203524027300255	0.136
18	10773636	A	C	18	10773638	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996067740399263	0.826
18	10773636	A	G	18	10773638	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0213948559097388	0.192
18	10773636	A	T	18	10773638	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999979011105697	0.976
18	10773637	G	A	18	10773639	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.949461716751074	0.682
18	10773637	G	C	18	10773639	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.979151141733888	0.672
18	10773637	G	T	18	10773639	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.982792841498653	0.67
18	10773638	A	C	18	10773640	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99990559665914	0.95
18	10773638	A	G	18	10773640	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.982729045624752	0.588
18	10773638	A	T	18	10773640	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999912026517855	0.978
18	10773639	G	A	18	10773641	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0320121580754628	0.242
18	10773639	G	C	18	10773641	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0638564368333678	0.136
18	10773639	G	T	18	10773641	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.183546604348538	0.204
18	10773996	G	A	18	10773998	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.640944614863228	0.528
18	10773996	G	C	18	10773998	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0897633671900128	0.22
18	10773996	G	T	18	10773998	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.640944614863228	0.384
18	10773997	G	A	18	10773999	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.640944614863228	0.384
18	10773997	G	C	18	10773999	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0501010916027844	0.2
18	10773997	G	T	18	10773999	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0897633671900128	0.22
18	10773998	A	C	18	10774000	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.218481417048237	0.538
18	10773998	A	G	18	10774000	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.218481417048237	0.538
18	10773998	A	T	18	10774000	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.451679428510185	0.66
18	10773999	C	A	18	10774001	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.849231125831134	0.616
18	10773999	C	G	18	10774001	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.640944614863228	0.632
18	10773999	C	T	18	10774001	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.849231125831134	0.62
18	10774000	T	A	18	10774002	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.451679428510185	0.66
18	10774000	T	C	18	10774002	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.218481417048237	0.538
18	10774000	T	G	18	10774002	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.218481417048237	0.538
18	10774001	T	A	18	10774003	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00405662573513608	0.086
18	10774001	T	C	18	10774003	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00220285109689569	0.094
18	10774001	T	G	18	10774003	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00220285109689569	0.086
18	10774002	A	C	18	10774004	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2567+2T>G;ENST00000383408:exon5:c.356+2T>G)	.	.	0.870511414983173	0.77
18	10774002	A	G	18	10774004	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2567+2T>C;ENST00000383408:exon5:c.356+2T>C)	.	.	0.870511414983173	0.768
18	10774002	A	T	18	10774004	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2567+2T>A;ENST00000383408:exon5:c.356+2T>A)	.	.	0.847852932600146	0.802
18	10774003	C	A	18	10774005	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2567+1G>T;ENST00000383408:exon5:c.356+1G>T)	.	.	0.990483331831657	0.884
18	10774003	C	G	18	10774005	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2567+1G>C;ENST00000383408:exon5:c.356+1G>C)	.	.	0.990483331831657	0.882
18	10774003	C	T	18	10774005	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2567+1G>A;ENST00000383408:exon5:c.356+1G>A)	.	.	0.990483331831657	0.894
18	10774004	T	A	18	10774006	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.A2567T:p.E856V;ENSG00000154864:ENST00000383408:exon4:c.A356T:p.E119V;	7.91335385279169E-4	0.006
18	10774004	T	C	18	10774006	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.A2567G:p.E856G;ENSG00000154864:ENST00000383408:exon4:c.A356G:p.E119G;	7.15838005414123E-4	0.0
18	10774004	T	G	18	10774006	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.A2567C:p.E856A;ENSG00000154864:ENST00000383408:exon4:c.A356C:p.E119A;	7.91335385279169E-4	0.0
18	10774005	C	A	18	10774007	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon19:c.G2566T:p.E856X;ENSG00000154864:ENST00000383408:exon4:c.G355T:p.E119X;	0.991606195519055	0.956
18	10774005	C	G	18	10774007	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.G2566C:p.E856Q;ENSG00000154864:ENST00000383408:exon4:c.G355C:p.E119Q;	0.0420627857621314	0.086
18	10774005	C	T	18	10774007	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.G2566A:p.E856K;ENSG00000154864:ENST00000383408:exon4:c.G355A:p.E119K;	0.849231125831134	0.65
18	10774006	A	C	18	10774008	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.T2565G:p.N855K;ENSG00000154864:ENST00000383408:exon4:c.T354G:p.N118K;	0.0104606540758069	0.034
18	10774006	A	G	18	10774008	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.T2565C:p.N855N;ENSG00000154864:ENST00000383408:exon4:c.T354C:p.N118N;	0.0813865848456973	0.422
18	10774006	A	T	18	10774008	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.T2565A:p.N855K;ENSG00000154864:ENST00000383408:exon4:c.T354A:p.N118K;	0.0141877749164601	0.082
18	10774035	T	A	18	10774037	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.A2536T:p.I846F;ENSG00000154864:ENST00000383408:exon4:c.A325T:p.I109F;	0.0104606540758069	0.03
18	10774035	T	C	18	10774037	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.A2536G:p.I846V;ENSG00000154864:ENST00000383408:exon4:c.A325G:p.I109V;	0.00378904365268926	0.028
18	10774035	T	G	18	10774037	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.A2536C:p.I846L;ENSG00000154864:ENST00000383408:exon4:c.A325C:p.I109L;	0.0169935945075136	0.136
18	10774036	G	A	18	10774038	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.C2535T:p.S845S;ENSG00000154864:ENST00000383408:exon4:c.C324T:p.S108S;	0.91918003965967	0.666
18	10774036	G	C	18	10774038	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.C2535G:p.S845R;ENSG00000154864:ENST00000383408:exon4:c.C324G:p.S108R;	0.640944614863228	0.514
18	10774036	G	T	18	10774038	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon19:c.C2535A:p.S845R;ENSG00000154864:ENST00000383408:exon4:c.C324A:p.S108R;	0.640944614863228	0.554
18	10774037	C	A	18	10774039	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2535-1G>T;ENST00000383408:exon5:c.324-1G>T)	.	.	0.990483331831657	0.882
18	10774037	C	G	18	10774039	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2535-1G>C;ENST00000383408:exon5:c.324-1G>C)	.	.	0.992098554889133	0.862
18	10774037	C	T	18	10774039	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2535-1G>A;ENST00000383408:exon5:c.324-1G>A)	.	.	0.990483331831657	0.89
18	10774038	T	A	18	10774040	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2535-2A>T;ENST00000383408:exon5:c.324-2A>T)	.	.	0.870511414983173	0.786
18	10774038	T	C	18	10774040	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2535-2A>G;ENST00000383408:exon5:c.324-2A>G)	.	.	0.803133416089577	0.746
18	10774038	T	G	18	10774040	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000580640:exon20:c.2535-2A>C;ENST00000383408:exon5:c.324-2A>C)	.	.	0.803133416089577	0.746
18	10774039	G	A	18	10774041	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.767085180236933	0.662
18	10774039	G	C	18	10774041	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.640944614863228	0.528
18	10774039	G	T	18	10774041	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.640944614863228	0.534
18	10774040	C	A	18	10774042	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0501010916027844	0.194
18	10774040	C	G	18	10774042	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0420627857621314	0.126
18	10774040	C	T	18	10774042	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0897633671900128	0.232
18	10774041	T	A	18	10774043	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00220285109689569	0.092
18	10774041	T	C	18	10774043	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00143393534730329	0.016
18	10774041	T	G	18	10774043	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0015915061370918	0.022
18	10774042	C	A	18	10774044	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.640944614863228	0.518
18	10774042	C	G	18	10774044	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.640944614863228	0.52
18	10774042	C	T	18	10774044	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.767085180236933	0.656
18	10774043	A	C	18	10774045	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.129962915763917	0.53
18	10774043	A	G	18	10774045	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.140493607526031	0.54
18	10774043	A	T	18	10774045	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.218481417048237	0.532
18	10774044	T	A	18	10774046	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.09333326667097E-4	0.018
18	10774044	T	C	18	10774046	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.09333326667097E-4	0.018
18	10774044	T	G	18	10774046	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.09333326667097E-4	0.018
18	10774045	A	C	18	10774047	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.830859123621159	0.852
18	10774045	A	G	18	10774047	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.830859123621159	0.852
18	10774045	A	T	18	10774047	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.830859123621159	0.854
18	10774046	G	A	18	10774048	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.114426343268805	0.438
18	10774046	G	C	18	10774048	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.114729214907001	0.446
18	10774046	G	T	18	10774048	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.114426343268805	0.438
18	10774047	T	A	18	10774049	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.845746242777158	0.822
18	10774047	T	C	18	10774049	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.847852932600146	0.792
18	10774047	T	G	18	10774049	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.847852932600146	0.798
18	10774048	A	C	18	10774050	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.80928604158601	0.846
18	10774048	A	G	18	10774050	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.80928604158601	0.846
18	10774048	A	T	18	10774050	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.830859123621159	0.852
18	10780315	G	A	18	10780317	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.08821754560775E-4	0.008
18	10780315	G	C	18	10780317	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.08821754560775E-4	0.006
18	10780315	G	T	18	10780317	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.08821754560775E-4	0.008
18	10780316	T	A	18	10780318	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00930804425121216	0.096
18	10780316	T	C	18	10780318	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00819663597890812	0.066
18	10780316	T	G	18	10780318	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00819663597890812	0.066
18	10780317	A	C	18	10780319	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.911103709025019	0.77
18	10780317	A	G	18	10780319	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.911103709025019	0.766
18	10780317	A	T	18	10780319	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.911103709025019	0.774
18	10780318	C	A	18	10780320	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993733916693694	0.872
18	10780318	C	G	18	10780320	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.992648088255867	0.872
18	10780318	C	T	18	10780320	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993733916693694	0.876
18	10780319	C	A	18	10780321	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993733916693694	0.872
18	10780319	C	G	18	10780321	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.992648088255867	0.872
18	10780319	C	T	18	10780321	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993733916693694	0.876
18	10780320	C	A	18	10780322	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993733916693694	0.872
18	10780320	C	G	18	10780322	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.992648088255867	0.872
18	10780320	C	T	18	10780322	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993733916693694	0.876
18	10780321	A	C	18	10780323	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2534+2T>G;ENST00000580640:exon19:c.2534+2T>G;ENST00000383408:exon4:c.323+2T>G)	.	.	0.919391053439177	0.836
18	10780321	A	G	18	10780323	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2534+2T>C;ENST00000580640:exon19:c.2534+2T>C;ENST00000383408:exon4:c.323+2T>C)	.	.	0.919391053439177	0.836
18	10780321	A	T	18	10780323	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2534+2T>A;ENST00000580640:exon19:c.2534+2T>A;ENST00000383408:exon4:c.323+2T>A)	.	.	0.919391053439177	0.834
18	10780322	C	A	18	10780324	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2534+1G>T;ENST00000580640:exon19:c.2534+1G>T;ENST00000383408:exon4:c.323+1G>T)	.	.	0.993824108016147	0.926
18	10780322	C	G	18	10780324	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2534+1G>C;ENST00000580640:exon19:c.2534+1G>C;ENST00000383408:exon4:c.323+1G>C)	.	.	0.993824108016147	0.928
18	10780322	C	T	18	10780324	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2534+1G>A;ENST00000580640:exon19:c.2534+1G>A;ENST00000383408:exon4:c.323+1G>A)	.	.	0.993824108016147	0.93
18	10780323	C	A	18	10780325	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.G2534T:p.S845I;ENSG00000154864:ENST00000582913:exon18:c.G2534T:p.R845I;ENSG00000154864:ENST00000383408:exon3:c.G323T:p.S108I;	0.993733916693694	0.88
18	10780323	C	G	18	10780325	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.G2534C:p.S845T;ENSG00000154864:ENST00000582913:exon18:c.G2534C:p.R845T;ENSG00000154864:ENST00000383408:exon3:c.G323C:p.S108T;	0.993733916693694	0.874
18	10780323	C	T	18	10780325	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.G2534A:p.S845N;ENSG00000154864:ENST00000582913:exon18:c.G2534A:p.R845K;ENSG00000154864:ENST00000383408:exon3:c.G323A:p.S108N;	0.993733916693694	0.87
18	10780324	T	A	18	10780326	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000582913:exon18:c.A2533T:p.R845X;	0.941543839093938	0.894
18	10780324	T	C	18	10780326	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.A2533G:p.S845G;ENSG00000154864:ENST00000582913:exon18:c.A2533G:p.R845G;ENSG00000154864:ENST00000383408:exon3:c.A322G:p.S108G;	0.886566787824741	0.74
18	10780324	T	G	18	10780326	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.A2533C:p.S845R;ENSG00000154864:ENST00000383408:exon3:c.A322C:p.S108R;	0.897180693818052	0.754
18	10780325	A	C	18	10780327	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.T2532G:p.N844K;ENSG00000154864:ENST00000582913:exon18:c.T2532G:p.N844K;ENSG00000154864:ENST00000383408:exon3:c.T321G:p.N107K;	0.416495770289916	0.5
18	10780325	A	G	18	10780327	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.T2532C:p.N844N;ENSG00000154864:ENST00000582913:exon18:c.T2532C:p.N844N;ENSG00000154864:ENST00000383408:exon3:c.T321C:p.N107N;	0.838332361233806	0.76
18	10780325	A	T	18	10780327	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.T2532A:p.N844K;ENSG00000154864:ENST00000582913:exon18:c.T2532A:p.N844K;ENSG00000154864:ENST00000383408:exon3:c.T321A:p.N107K;	0.416495770289916	0.542
18	10780363	G	A	18	10780365	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.C2494T:p.H832Y;ENSG00000154864:ENST00000582913:exon18:c.C2494T:p.H832Y;ENSG00000154864:ENST00000383408:exon3:c.C283T:p.H95Y;	0.793118250434253	0.596
18	10780363	G	C	18	10780365	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.C2494G:p.H832D;ENSG00000154864:ENST00000582913:exon18:c.C2494G:p.H832D;ENSG00000154864:ENST00000383408:exon3:c.C283G:p.H95D;	0.17477320534835	0.282
18	10780363	G	T	18	10780365	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.C2494A:p.H832N;ENSG00000154864:ENST00000582913:exon18:c.C2494A:p.H832N;ENSG00000154864:ENST00000383408:exon3:c.C283A:p.H95N;	0.793118250434253	0.588
18	10780364	G	A	18	10780366	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.C2493T:p.S831S;ENSG00000154864:ENST00000582913:exon18:c.C2493T:p.S831S;ENSG00000154864:ENST00000383408:exon3:c.C282T:p.S94S;	0.992648088255867	0.872
18	10780364	G	C	18	10780366	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.C2493G:p.S831R;ENSG00000154864:ENST00000582913:exon18:c.C2493G:p.S831R;ENSG00000154864:ENST00000383408:exon3:c.C282G:p.S94R;	0.986152223221829	0.872
18	10780364	G	T	18	10780366	n	y	intronic	PIEZO2	.	.	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon18:c.C2493A:p.S831R;ENSG00000154864:ENST00000582913:exon18:c.C2493A:p.S831R;ENSG00000154864:ENST00000383408:exon3:c.C282A:p.S94R;	0.986152223221829	0.866
18	10780365	C	A	18	10780367	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2493-1G>T;ENST00000580640:exon19:c.2493-1G>T;ENST00000383408:exon4:c.282-1G>T)	.	.	0.993824108016147	0.938
18	10780365	C	G	18	10780367	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2493-1G>C;ENST00000580640:exon19:c.2493-1G>C;ENST00000383408:exon4:c.282-1G>C)	.	.	0.993824108016147	0.938
18	10780365	C	T	18	10780367	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2493-1G>A;ENST00000580640:exon19:c.2493-1G>A;ENST00000383408:exon4:c.282-1G>A)	.	.	0.993824108016147	0.938
18	10780366	T	A	18	10780368	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2493-2A>T;ENST00000580640:exon19:c.2493-2A>T;ENST00000383408:exon4:c.282-2A>T)	.	.	0.927168985623823	0.83
18	10780366	T	C	18	10780368	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2493-2A>G;ENST00000580640:exon19:c.2493-2A>G;ENST00000383408:exon4:c.282-2A>G)	.	.	0.928257989370818	0.814
18	10780366	T	G	18	10780368	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864(ENST00000582913:exon19:c.2493-2A>C;ENST00000580640:exon19:c.2493-2A>C;ENST00000383408:exon4:c.282-2A>C)	.	.	0.927168985623823	0.814
18	10780367	A	C	18	10780369	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.43033388138958E-4	0.002
18	10780367	A	G	18	10780369	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.43033388138958E-4	0.002
18	10780367	A	T	18	10780369	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.43033388138958E-4	0.01
18	10780368	C	A	18	10780370	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.49778138453998E-5	0.0
18	10780368	C	G	18	10780370	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.34150215537742E-5	0.0
18	10780368	C	T	18	10780370	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.49778138453998E-5	0.0
18	10780369	G	A	18	10780371	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.15941453541388E-5	0.002
18	10780369	G	C	18	10780371	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.89925739660516E-5	0.006
18	10780369	G	T	18	10780371	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.15941453541388E-5	0.004
18	10780370	A	C	18	10780372	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.11439104852786E-5	0.002
18	10780370	A	G	18	10780372	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.11439104852786E-5	0.002
18	10780370	A	T	18	10780372	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.11439104852786E-5	0.002
18	10780371	G	A	18	10780373	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.59869823547165E-5	0.0
18	10780371	G	C	18	10780373	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.7106675465155E-5	0.0
18	10780371	G	T	18	10780373	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.7106675465155E-5	0.0
18	10780372	G	A	18	10780374	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.001596013583427	0.036
18	10780372	G	C	18	10780374	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.001596013583427	0.036
18	10780372	G	T	18	10780374	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.001596013583427	0.036
18	10780373	T	A	18	10780375	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.05499324916919E-5	0.0
18	10780373	T	C	18	10780375	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.75002676380762E-5	0.002
18	10780373	T	G	18	10780375	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.75002676380762E-5	0.002
18	10780374	G	A	18	10780376	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.01630195545421E-4	0.006
18	10780374	G	C	18	10780376	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.05716260191014E-5	0.006
18	10780374	G	T	18	10780376	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.01630195545421E-4	0.02
18	10780375	G	A	18	10780377	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.7480237882171E-4	0.076
18	10780375	G	C	18	10780377	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.73571827865123E-4	0.06
18	10780375	G	T	18	10780377	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.73571827865123E-4	0.054
18	10780376	C	A	18	10780378	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.04460388749126E-4	0.09
18	10780376	C	G	18	10780378	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.63258618359816E-5	0.028
18	10780376	C	T	18	10780378	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.90713196109059E-5	0.048
18	10784774	T	A	18	10784776	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.86075475573093E-5	0.002
18	10784774	T	C	18	10784776	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.86075475573093E-5	0.0
18	10784774	T	G	18	10784776	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.86075475573093E-5	0.004
18	10784775	G	A	18	10784777	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.67735955014861E-6	0.0
18	10784775	G	C	18	10784777	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.82152694110954E-6	0.0
18	10784775	G	T	18	10784777	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.10275622159801E-5	0.0
18	10784776	G	A	18	10784778	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.40886065434894E-5	0.0
18	10784776	G	C	18	10784778	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.72618110919499E-5	0.024
18	10784776	G	T	18	10784778	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.0284765187763E-4	0.002
18	10784777	C	A	18	10784779	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998618409014827	0.878
18	10784777	C	G	18	10784779	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.992472608528426	0.806
18	10784777	C	T	18	10784779	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997331436331765	0.938
18	10784778	T	A	18	10784780	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.967804358867834	0.518
18	10784778	T	C	18	10784780	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.618431164838032	0.366
18	10784778	T	G	18	10784780	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.149365137051116	0.254
18	10784779	C	A	18	10784781	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.590856677690376	0.49
18	10784779	C	G	18	10784781	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.211453425073902	0.542
18	10784779	C	T	18	10784781	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.82789831418459E-4	0.0
18	10784780	A	C	18	10784782	y	y	splicing	PIEZO2(NM_022068:exon18:c.2492+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2492+2T>G;ENST00000582913:exon18:c.2492+2T>G;ENST00000503781:exon18:c.2492+2T>G;ENST00000580640:exon18:c.2492+2T>G;ENST00000383408:exon3:c.281+2T>G;ENST00000583325:exon6:c.479+2T>G)	.	.	0.999988247793601	0.928
18	10784780	A	G	18	10784782	y	y	splicing	PIEZO2(NM_022068:exon18:c.2492+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2492+2T>C;ENST00000582913:exon18:c.2492+2T>C;ENST00000503781:exon18:c.2492+2T>C;ENST00000580640:exon18:c.2492+2T>C;ENST00000383408:exon3:c.281+2T>C;ENST00000583325:exon6:c.479+2T>C)	.	.	0.999929727175276	0.866
18	10784780	A	T	18	10784782	y	y	splicing	PIEZO2(NM_022068:exon18:c.2492+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2492+2T>A;ENST00000582913:exon18:c.2492+2T>A;ENST00000503781:exon18:c.2492+2T>A;ENST00000580640:exon18:c.2492+2T>A;ENST00000383408:exon3:c.281+2T>A;ENST00000583325:exon6:c.479+2T>A)	.	.	0.999988247793601	0.928
18	10784781	C	A	18	10784783	y	y	splicing	PIEZO2(NM_022068:exon18:c.2492+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2492+1G>T;ENST00000582913:exon18:c.2492+1G>T;ENST00000503781:exon18:c.2492+1G>T;ENST00000580640:exon18:c.2492+1G>T;ENST00000383408:exon3:c.281+1G>T;ENST00000583325:exon6:c.479+1G>T)	.	.	0.999985532734767	0.936
18	10784781	C	G	18	10784783	y	y	splicing	PIEZO2(NM_022068:exon18:c.2492+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2492+1G>C;ENST00000582913:exon18:c.2492+1G>C;ENST00000503781:exon18:c.2492+1G>C;ENST00000580640:exon18:c.2492+1G>C;ENST00000383408:exon3:c.281+1G>C;ENST00000583325:exon6:c.479+1G>C)	.	.	0.999985532734767	0.936
18	10784781	C	T	18	10784783	y	y	splicing	PIEZO2(NM_022068:exon18:c.2492+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2492+1G>A;ENST00000582913:exon18:c.2492+1G>A;ENST00000503781:exon18:c.2492+1G>A;ENST00000580640:exon18:c.2492+1G>A;ENST00000383408:exon3:c.281+1G>A;ENST00000583325:exon6:c.479+1G>A)	.	.	0.999985532734767	0.936
18	10784782	C	A	18	10784784	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.G2492T:p.R831I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.G2492T:p.S831I;ENSG00000154864:ENST00000582913:exon17:c.G2492T:p.S831I;ENSG00000154864:ENST00000503781:exon17:c.G2492T:p.R831I;ENSG00000154864:ENST00000583325:exon5:c.G479T:p.R160I;ENSG00000154864:ENST00000383408:exon2:c.G281T:p.S94I;ENSG00000154864:ENST00000302079:exon17:c.G2492T:p.R831I;	0.999953588007062	0.996
18	10784782	C	G	18	10784784	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.G2492C:p.R831T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.G2492C:p.S831T;ENSG00000154864:ENST00000582913:exon17:c.G2492C:p.S831T;ENSG00000154864:ENST00000503781:exon17:c.G2492C:p.R831T;ENSG00000154864:ENST00000583325:exon5:c.G479C:p.R160T;ENSG00000154864:ENST00000383408:exon2:c.G281C:p.S94T;ENSG00000154864:ENST00000302079:exon17:c.G2492C:p.R831T;	0.99998594381921	0.994
18	10784782	C	T	18	10784784	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.G2492A:p.R831K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.G2492A:p.S831N;ENSG00000154864:ENST00000582913:exon17:c.G2492A:p.S831N;ENSG00000154864:ENST00000503781:exon17:c.G2492A:p.R831K;ENSG00000154864:ENST00000583325:exon5:c.G479A:p.R160K;ENSG00000154864:ENST00000383408:exon2:c.G281A:p.S94N;ENSG00000154864:ENST00000302079:exon17:c.G2492A:p.R831K;	0.999940445840525	0.962
18	10784783	T	A	18	10784785	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon17:c.A2491T:p.R831X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000503781:exon17:c.A2491T:p.R831X;ENSG00000154864:ENST00000583325:exon5:c.A478T:p.R160X;ENSG00000154864:ENST00000302079:exon17:c.A2491T:p.R831X;	0.99283084559616	0.852
18	10784783	T	C	18	10784785	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.A2491G:p.R831G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.A2491G:p.S831G;ENSG00000154864:ENST00000582913:exon17:c.A2491G:p.S831G;ENSG00000154864:ENST00000503781:exon17:c.A2491G:p.R831G;ENSG00000154864:ENST00000583325:exon5:c.A478G:p.R160G;ENSG00000154864:ENST00000383408:exon2:c.A280G:p.S94G;ENSG00000154864:ENST00000302079:exon17:c.A2491G:p.R831G;	0.986512088464997	0.958
18	10784783	T	G	18	10784785	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon17:c.A2491C:p.R831R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.A2491C:p.S831R;ENSG00000154864:ENST00000582913:exon17:c.A2491C:p.S831R;ENSG00000154864:ENST00000383408:exon2:c.A280C:p.S94R;	0.983614426081872	0.926
18	10784784	G	A	18	10784786	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon17:c.C2490T:p.Y830Y;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.C2490T:p.Y830Y;ENSG00000154864:ENST00000582913:exon17:c.C2490T:p.Y830Y;ENSG00000154864:ENST00000503781:exon17:c.C2490T:p.Y830Y;ENSG00000154864:ENST00000583325:exon5:c.C477T:p.Y159Y;ENSG00000154864:ENST00000383408:exon2:c.C279T:p.Y93Y;ENSG00000154864:ENST00000302079:exon17:c.C2490T:p.Y830Y;	0.0143285248592433	0.36
18	10784784	G	C	18	10784786	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon17:c.C2490G:p.Y830X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon17:c.C2490G:p.Y830X;ENSG00000154864:ENST00000582913:exon17:c.C2490G:p.Y830X;ENSG00000154864:ENST00000503781:exon17:c.C2490G:p.Y830X;ENSG00000154864:ENST00000583325:exon5:c.C477G:p.Y159X;ENSG00000154864:ENST00000383408:exon2:c.C279G:p.Y93X;ENSG00000154864:ENST00000302079:exon17:c.C2490G:p.Y830X;	0.00546877338297568	0.3
18	10784784	G	T	18	10784786	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon17:c.C2490A:p.Y830X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon17:c.C2490A:p.Y830X;ENSG00000154864:ENST00000582913:exon17:c.C2490A:p.Y830X;ENSG00000154864:ENST00000503781:exon17:c.C2490A:p.Y830X;ENSG00000154864:ENST00000583325:exon5:c.C477A:p.Y159X;ENSG00000154864:ENST00000383408:exon2:c.C279A:p.Y93X;ENSG00000154864:ENST00000302079:exon17:c.C2490A:p.Y830X;	0.0107807043399687	0.352
18	10784954	G	A	18	10784956	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.C2320T:p.L774F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.C2320T:p.L774F;ENSG00000154864:ENST00000582913:exon17:c.C2320T:p.L774F;ENSG00000154864:ENST00000503781:exon17:c.C2320T:p.L774F;ENSG00000154864:ENST00000583325:exon5:c.C307T:p.L103F;ENSG00000154864:ENST00000383408:exon2:c.C109T:p.L37F;ENSG00000154864:ENST00000302079:exon17:c.C2320T:p.L774F;	0.0062743953945368	0.054
18	10784954	G	C	18	10784956	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.C2320G:p.L774V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.C2320G:p.L774V;ENSG00000154864:ENST00000582913:exon17:c.C2320G:p.L774V;ENSG00000154864:ENST00000503781:exon17:c.C2320G:p.L774V;ENSG00000154864:ENST00000583325:exon5:c.C307G:p.L103V;ENSG00000154864:ENST00000383408:exon2:c.C109G:p.L37V;ENSG00000154864:ENST00000302079:exon17:c.C2320G:p.L774V;	0.00680084534017957	0.068
18	10784954	G	T	18	10784956	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.C2320A:p.L774I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.C2320A:p.L774I;ENSG00000154864:ENST00000582913:exon17:c.C2320A:p.L774I;ENSG00000154864:ENST00000503781:exon17:c.C2320A:p.L774I;ENSG00000154864:ENST00000583325:exon5:c.C307A:p.L103I;ENSG00000154864:ENST00000383408:exon2:c.C109A:p.L37I;ENSG00000154864:ENST00000302079:exon17:c.C2320A:p.L774I;	0.0114711912866896	0.074
18	10784955	C	A	18	10784957	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.G2319T:p.K773N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.G2319T:p.K773N;ENSG00000154864:ENST00000582913:exon17:c.G2319T:p.K773N;ENSG00000154864:ENST00000503781:exon17:c.G2319T:p.K773N;ENSG00000154864:ENST00000583325:exon5:c.G306T:p.K102N;ENSG00000154864:ENST00000383408:exon2:c.G108T:p.K36N;ENSG00000154864:ENST00000302079:exon17:c.G2319T:p.K773N;	0.358819518103899	0.472
18	10784955	C	G	18	10784957	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon17:c.G2319C:p.K773N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.G2319C:p.K773N;ENSG00000154864:ENST00000582913:exon17:c.G2319C:p.K773N;ENSG00000154864:ENST00000503781:exon17:c.G2319C:p.K773N;ENSG00000154864:ENST00000583325:exon5:c.G306C:p.K102N;ENSG00000154864:ENST00000383408:exon2:c.G108C:p.K36N;ENSG00000154864:ENST00000302079:exon17:c.G2319C:p.K773N;	0.0581832413701247	0.358
18	10784955	C	T	18	10784957	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon17:c.G2319A:p.K773K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon17:c.G2319A:p.K773K;ENSG00000154864:ENST00000582913:exon17:c.G2319A:p.K773K;ENSG00000154864:ENST00000503781:exon17:c.G2319A:p.K773K;ENSG00000154864:ENST00000583325:exon5:c.G306A:p.K102K;ENSG00000154864:ENST00000383408:exon2:c.G108A:p.K36K;ENSG00000154864:ENST00000302079:exon17:c.G2319A:p.K773K;	0.0524582744570151	0.252
18	10784956	C	A	18	10784958	y	y	splicing	PIEZO2(NM_022068:exon18:c.2319-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2319-1G>T;ENST00000582913:exon18:c.2319-1G>T;ENST00000503781:exon18:c.2319-1G>T;ENST00000580640:exon18:c.2319-1G>T;ENST00000383408:exon3:c.108-1G>T;ENST00000583325:exon6:c.306-1G>T)	.	.	0.999985532734767	0.936
18	10784956	C	G	18	10784958	y	y	splicing	PIEZO2(NM_022068:exon18:c.2319-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2319-1G>C;ENST00000582913:exon18:c.2319-1G>C;ENST00000503781:exon18:c.2319-1G>C;ENST00000580640:exon18:c.2319-1G>C;ENST00000383408:exon3:c.108-1G>C;ENST00000583325:exon6:c.306-1G>C)	.	.	0.999985532734767	0.936
18	10784956	C	T	18	10784958	y	y	splicing	PIEZO2(NM_022068:exon18:c.2319-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2319-1G>A;ENST00000582913:exon18:c.2319-1G>A;ENST00000503781:exon18:c.2319-1G>A;ENST00000580640:exon18:c.2319-1G>A;ENST00000383408:exon3:c.108-1G>A;ENST00000583325:exon6:c.306-1G>A)	.	.	0.999985532734767	0.936
18	10784957	T	A	18	10784959	y	y	splicing	PIEZO2(NM_022068:exon18:c.2319-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2319-2A>T;ENST00000582913:exon18:c.2319-2A>T;ENST00000503781:exon18:c.2319-2A>T;ENST00000580640:exon18:c.2319-2A>T;ENST00000383408:exon3:c.108-2A>T;ENST00000583325:exon6:c.306-2A>T)	.	.	0.999988247793601	0.928
18	10784957	T	C	18	10784959	y	y	splicing	PIEZO2(NM_022068:exon18:c.2319-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2319-2A>G;ENST00000582913:exon18:c.2319-2A>G;ENST00000503781:exon18:c.2319-2A>G;ENST00000580640:exon18:c.2319-2A>G;ENST00000383408:exon3:c.108-2A>G;ENST00000583325:exon6:c.306-2A>G)	.	.	0.999988247793601	0.928
18	10784957	T	G	18	10784959	y	y	splicing	PIEZO2(NM_022068:exon18:c.2319-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon18:c.2319-2A>C;ENST00000582913:exon18:c.2319-2A>C;ENST00000503781:exon18:c.2319-2A>C;ENST00000580640:exon18:c.2319-2A>C;ENST00000383408:exon3:c.108-2A>C;ENST00000583325:exon6:c.306-2A>C)	.	.	0.999988247793601	0.928
18	10784958	G	A	18	10784960	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0125916865418817	0.152
18	10784958	G	C	18	10784960	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999893467777387	0.9
18	10784958	G	T	18	10784960	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.347768770552321	0.396
18	10784959	C	A	18	10784961	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.08766874104105E-5	0.016
18	10784959	C	G	18	10784961	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.06431577423052E-5	0.008
18	10784959	C	T	18	10784961	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.73422042223117E-4	0.036
18	10784960	A	C	18	10784962	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0313757432375101	0.338
18	10784960	A	G	18	10784962	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.4838737146233E-4	0.044
18	10784960	A	T	18	10784962	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.991068906567969	0.738
18	10784961	A	C	18	10784963	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.101597525443953	0.526
18	10784961	A	G	18	10784963	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.15612849105351E-5	0.01
18	10784961	A	T	18	10784963	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.241696939354378	0.558
18	10784962	A	C	18	10784964	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00208459209983515	0.202
18	10784962	A	G	18	10784964	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.89732274598298E-5	0.002
18	10784962	A	T	18	10784964	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00299525968800618	0.21
18	10784963	A	C	18	10784965	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00208554785355252	0.068
18	10784963	A	G	18	10784965	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.00637319589888E-5	0.01
18	10784963	A	T	18	10784965	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00191392379094044	0.072
18	10784964	C	A	18	10784966	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.1627296310815E-5	0.02
18	10784964	C	G	18	10784966	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.37989420015717E-6	0.008
18	10784964	C	T	18	10784966	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.55726545592741E-5	0.022
18	10784965	A	C	18	10784967	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.195969573309843	0.484
18	10784965	A	G	18	10784967	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.55088372620277E-5	0.034
18	10784965	A	T	18	10784967	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999715590365727	0.92
18	10784966	A	C	18	10784968	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0400618160138957	0.222
18	10784966	A	G	18	10784968	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00135453780198169	0.066
18	10784966	A	T	18	10784968	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0458416489066822	0.374
18	10784967	A	C	18	10784969	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0640127465202684	0.322
18	10784967	A	G	18	10784969	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.89487303204185E-4	0.084
18	10784967	A	T	18	10784969	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.077287822702723	0.324
18	10787026	T	A	18	10787028	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.73958162046212E-5	0.0
18	10787026	T	C	18	10787028	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.06407420733308E-4	0.0
18	10787026	T	G	18	10787028	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03964386296192E-4	0.0
18	10787027	C	A	18	10787029	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.81538162844641E-5	0.002
18	10787027	C	G	18	10787029	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.78662238186337E-5	0.0
18	10787027	C	T	18	10787029	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.81538162844641E-5	0.0
18	10787028	A	C	18	10787030	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0134038078837448	0.094
18	10787028	A	G	18	10787030	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00227470835553604	0.08
18	10787028	A	T	18	10787030	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0106945266300165	0.088
18	10787029	C	A	18	10787031	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999158180821892	0.832
18	10787029	C	G	18	10787031	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997005583815565	0.852
18	10787029	C	T	18	10787031	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99561880463405	0.866
18	10787030	T	A	18	10787032	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.652148382356434	0.57
18	10787030	T	C	18	10787032	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.670091946360449	0.68
18	10787030	T	G	18	10787032	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.502107467106409	0.488
18	10787031	T	A	18	10787033	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.974525967166846	0.688
18	10787031	T	C	18	10787033	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.016274032474982	0.2
18	10787031	T	G	18	10787033	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999293629736858	0.828
18	10787032	A	C	18	10787034	y	y	splicing	PIEZO2(NM_022068:exon17:c.2318+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2318+2T>G;ENST00000582913:exon17:c.2318+2T>G;ENST00000503781:exon17:c.2318+2T>G;ENST00000580640:exon17:c.2318+2T>G;ENST00000383408:exon2:c.107+2T>G;ENST00000583325:exon5:c.305+2T>G)	.	.	0.999972155025474	0.852
18	10787032	A	G	18	10787034	y	y	splicing	PIEZO2(NM_022068:exon17:c.2318+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2318+2T>C;ENST00000582913:exon17:c.2318+2T>C;ENST00000503781:exon17:c.2318+2T>C;ENST00000580640:exon17:c.2318+2T>C;ENST00000383408:exon2:c.107+2T>C;ENST00000583325:exon5:c.305+2T>C)	.	.	0.962250233067384	0.578
18	10787032	A	T	18	10787034	y	y	splicing	PIEZO2(NM_022068:exon17:c.2318+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2318+2T>A;ENST00000582913:exon17:c.2318+2T>A;ENST00000503781:exon17:c.2318+2T>A;ENST00000580640:exon17:c.2318+2T>A;ENST00000383408:exon2:c.107+2T>A;ENST00000583325:exon5:c.305+2T>A)	.	.	0.999982151912279	0.89
18	10787033	C	A	18	10787035	y	y	splicing	PIEZO2(NM_022068:exon17:c.2318+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2318+1G>T;ENST00000582913:exon17:c.2318+1G>T;ENST00000503781:exon17:c.2318+1G>T;ENST00000580640:exon17:c.2318+1G>T;ENST00000383408:exon2:c.107+1G>T;ENST00000583325:exon5:c.305+1G>T)	.	.	0.99996748057446	0.906
18	10787033	C	G	18	10787035	y	y	splicing	PIEZO2(NM_022068:exon17:c.2318+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2318+1G>C;ENST00000582913:exon17:c.2318+1G>C;ENST00000503781:exon17:c.2318+1G>C;ENST00000580640:exon17:c.2318+1G>C;ENST00000383408:exon2:c.107+1G>C;ENST00000583325:exon5:c.305+1G>C)	.	.	0.99996748057446	0.906
18	10787033	C	T	18	10787035	y	y	splicing	PIEZO2(NM_022068:exon17:c.2318+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2318+1G>A;ENST00000582913:exon17:c.2318+1G>A;ENST00000503781:exon17:c.2318+1G>A;ENST00000580640:exon17:c.2318+1G>A;ENST00000383408:exon2:c.107+1G>A;ENST00000583325:exon5:c.305+1G>A)	.	.	0.99996748057446	0.908
18	10787034	T	A	18	10787036	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.A2318T:p.K773M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.A2318T:p.K773M;ENSG00000154864:ENST00000582913:exon16:c.A2318T:p.K773M;ENSG00000154864:ENST00000503781:exon16:c.A2318T:p.K773M;ENSG00000154864:ENST00000583325:exon4:c.A305T:p.K102M;ENSG00000154864:ENST00000383408:exon1:c.A107T:p.K36M;ENSG00000154864:ENST00000302079:exon16:c.A2318T:p.K773M;	0.00257800914672858	0.114
18	10787034	T	C	18	10787036	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.A2318G:p.K773R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.A2318G:p.K773R;ENSG00000154864:ENST00000582913:exon16:c.A2318G:p.K773R;ENSG00000154864:ENST00000503781:exon16:c.A2318G:p.K773R;ENSG00000154864:ENST00000583325:exon4:c.A305G:p.K102R;ENSG00000154864:ENST00000383408:exon1:c.A107G:p.K36R;ENSG00000154864:ENST00000302079:exon16:c.A2318G:p.K773R;	1.82074431578092E-4	0.044
18	10787034	T	G	18	10787036	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.A2318C:p.K773T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.A2318C:p.K773T;ENSG00000154864:ENST00000582913:exon16:c.A2318C:p.K773T;ENSG00000154864:ENST00000503781:exon16:c.A2318C:p.K773T;ENSG00000154864:ENST00000583325:exon4:c.A305C:p.K102T;ENSG00000154864:ENST00000383408:exon1:c.A107C:p.K36T;ENSG00000154864:ENST00000302079:exon16:c.A2318C:p.K773T;	0.00125607165275795	0.076
18	10787035	T	A	18	10787037	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon16:c.A2317T:p.K773X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon16:c.A2317T:p.K773X;ENSG00000154864:ENST00000582913:exon16:c.A2317T:p.K773X;ENSG00000154864:ENST00000503781:exon16:c.A2317T:p.K773X;ENSG00000154864:ENST00000583325:exon4:c.A304T:p.K102X;ENSG00000154864:ENST00000383408:exon1:c.A106T:p.K36X;ENSG00000154864:ENST00000302079:exon16:c.A2317T:p.K773X;	0.590263542484835	0.54
18	10787035	T	C	18	10787037	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.A2317G:p.K773E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.A2317G:p.K773E;ENSG00000154864:ENST00000582913:exon16:c.A2317G:p.K773E;ENSG00000154864:ENST00000503781:exon16:c.A2317G:p.K773E;ENSG00000154864:ENST00000583325:exon4:c.A304G:p.K102E;ENSG00000154864:ENST00000383408:exon1:c.A106G:p.K36E;ENSG00000154864:ENST00000302079:exon16:c.A2317G:p.K773E;	0.0388655967684896	0.27
18	10787035	T	G	18	10787037	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.A2317C:p.K773Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.A2317C:p.K773Q;ENSG00000154864:ENST00000582913:exon16:c.A2317C:p.K773Q;ENSG00000154864:ENST00000503781:exon16:c.A2317C:p.K773Q;ENSG00000154864:ENST00000583325:exon4:c.A304C:p.K102Q;ENSG00000154864:ENST00000383408:exon1:c.A106C:p.K36Q;ENSG00000154864:ENST00000302079:exon16:c.A2317C:p.K773Q;	0.0342332489178553	0.492
18	10787036	T	A	18	10787038	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.A2316T:p.E772D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.A2316T:p.E772D;ENSG00000154864:ENST00000582913:exon16:c.A2316T:p.E772D;ENSG00000154864:ENST00000503781:exon16:c.A2316T:p.E772D;ENSG00000154864:ENST00000583325:exon4:c.A303T:p.E101D;ENSG00000154864:ENST00000383408:exon1:c.A105T:p.E35D;ENSG00000154864:ENST00000302079:exon16:c.A2316T:p.E772D;	8.19244048212973E-4	0.152
18	10787036	T	C	18	10787038	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon16:c.A2316G:p.E772E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.A2316G:p.E772E;ENSG00000154864:ENST00000582913:exon16:c.A2316G:p.E772E;ENSG00000154864:ENST00000503781:exon16:c.A2316G:p.E772E;ENSG00000154864:ENST00000583325:exon4:c.A303G:p.E101E;ENSG00000154864:ENST00000383408:exon1:c.A105G:p.E35E;ENSG00000154864:ENST00000302079:exon16:c.A2316G:p.E772E;	6.7495089332893E-5	0.0
18	10787036	T	G	18	10787038	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.A2316C:p.E772D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.A2316C:p.E772D;ENSG00000154864:ENST00000582913:exon16:c.A2316C:p.E772D;ENSG00000154864:ENST00000503781:exon16:c.A2316C:p.E772D;ENSG00000154864:ENST00000583325:exon4:c.A303C:p.E101D;ENSG00000154864:ENST00000383408:exon1:c.A105C:p.E35D;ENSG00000154864:ENST00000302079:exon16:c.A2316C:p.E772D;	3.35550076395598E-5	0.0
18	10787181	A	C	18	10787183	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.T2171G:p.V724G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.T2171G:p.V724G;ENSG00000154864:ENST00000582913:exon16:c.T2171G:p.V724G;ENSG00000154864:ENST00000503781:exon16:c.T2171G:p.V724G;ENSG00000154864:ENST00000583325:exon4:c.T158G:p.V53G;ENSG00000154864:ENST00000302079:exon16:c.T2171G:p.V724G;	0.0194776900886749	0.194
18	10787181	A	G	18	10787183	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.T2171C:p.V724A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.T2171C:p.V724A;ENSG00000154864:ENST00000582913:exon16:c.T2171C:p.V724A;ENSG00000154864:ENST00000503781:exon16:c.T2171C:p.V724A;ENSG00000154864:ENST00000583325:exon4:c.T158C:p.V53A;ENSG00000154864:ENST00000302079:exon16:c.T2171C:p.V724A;	0.0188218377167319	0.188
18	10787181	A	T	18	10787183	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.T2171A:p.V724E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.T2171A:p.V724E;ENSG00000154864:ENST00000582913:exon16:c.T2171A:p.V724E;ENSG00000154864:ENST00000503781:exon16:c.T2171A:p.V724E;ENSG00000154864:ENST00000583325:exon4:c.T158A:p.V53E;ENSG00000154864:ENST00000302079:exon16:c.T2171A:p.V724E;	0.0231239900404264	0.172
18	10787182	C	A	18	10787184	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.G2170T:p.V724L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.G2170T:p.V724L;ENSG00000154864:ENST00000582913:exon16:c.G2170T:p.V724L;ENSG00000154864:ENST00000503781:exon16:c.G2170T:p.V724L;ENSG00000154864:ENST00000583325:exon4:c.G157T:p.V53L;ENSG00000154864:ENST00000302079:exon16:c.G2170T:p.V724L;	0.990242471952571	0.708
18	10787182	C	G	18	10787184	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.G2170C:p.V724L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.G2170C:p.V724L;ENSG00000154864:ENST00000582913:exon16:c.G2170C:p.V724L;ENSG00000154864:ENST00000503781:exon16:c.G2170C:p.V724L;ENSG00000154864:ENST00000583325:exon4:c.G157C:p.V53L;ENSG00000154864:ENST00000302079:exon16:c.G2170C:p.V724L;	0.942614290877253	0.72
18	10787182	C	T	18	10787184	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon16:c.G2170A:p.V724M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon16:c.G2170A:p.V724M;ENSG00000154864:ENST00000582913:exon16:c.G2170A:p.V724M;ENSG00000154864:ENST00000503781:exon16:c.G2170A:p.V724M;ENSG00000154864:ENST00000583325:exon4:c.G157A:p.V53M;ENSG00000154864:ENST00000302079:exon16:c.G2170A:p.V724M;	0.429892084782313	0.566
18	10787183	C	A	18	10787185	y	y	splicing	PIEZO2(NM_022068:exon17:c.2170-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2170-1G>T;ENST00000582913:exon17:c.2170-1G>T;ENST00000503781:exon17:c.2170-1G>T;ENST00000580640:exon17:c.2170-1G>T;ENST00000583325:exon5:c.157-1G>T)	.	.	0.999947457575714	0.948
18	10787183	C	G	18	10787185	y	y	splicing	PIEZO2(NM_022068:exon17:c.2170-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2170-1G>C;ENST00000582913:exon17:c.2170-1G>C;ENST00000503781:exon17:c.2170-1G>C;ENST00000580640:exon17:c.2170-1G>C;ENST00000583325:exon5:c.157-1G>C)	.	.	0.999947457575714	0.948
18	10787183	C	T	18	10787185	y	y	splicing	PIEZO2(NM_022068:exon17:c.2170-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2170-1G>A;ENST00000582913:exon17:c.2170-1G>A;ENST00000503781:exon17:c.2170-1G>A;ENST00000580640:exon17:c.2170-1G>A;ENST00000583325:exon5:c.157-1G>A)	.	.	0.999947457575714	0.944
18	10787184	T	A	18	10787186	y	y	splicing	PIEZO2(NM_022068:exon17:c.2170-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2170-2A>T;ENST00000582913:exon17:c.2170-2A>T;ENST00000503781:exon17:c.2170-2A>T;ENST00000580640:exon17:c.2170-2A>T;ENST00000583325:exon5:c.157-2A>T)	.	.	0.999982833853374	0.954
18	10787184	T	C	18	10787186	y	y	splicing	PIEZO2(NM_022068:exon17:c.2170-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2170-2A>G;ENST00000582913:exon17:c.2170-2A>G;ENST00000503781:exon17:c.2170-2A>G;ENST00000580640:exon17:c.2170-2A>G;ENST00000583325:exon5:c.157-2A>G)	.	.	0.999976506134575	0.894
18	10787184	T	G	18	10787186	y	y	splicing	PIEZO2(NM_022068:exon17:c.2170-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon17:c.2170-2A>C;ENST00000582913:exon17:c.2170-2A>C;ENST00000503781:exon17:c.2170-2A>C;ENST00000580640:exon17:c.2170-2A>C;ENST00000583325:exon5:c.157-2A>C)	.	.	0.999982235061515	0.936
18	10787185	G	A	18	10787187	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00456541462504431	0.18
18	10787185	G	C	18	10787187	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99985164082942	0.938
18	10787185	G	T	18	10787187	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.910217322667064	0.656
18	10787186	C	A	18	10787188	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.27923422929502E-5	0.01
18	10787186	C	G	18	10787188	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.81977181562654E-5	0.0
18	10787186	C	T	18	10787188	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.20506948057599E-5	0.006
18	10787187	A	C	18	10787189	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0456315008957054	0.182
18	10787187	A	G	18	10787189	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.31353807508591E-4	0.0
18	10787187	A	T	18	10787189	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.992215865602871	0.826
18	10787188	A	C	18	10787190	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0457581269087822	0.224
18	10787188	A	G	18	10787190	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.05313870176744E-4	0.008
18	10787188	A	T	18	10787190	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0487277726302175	0.206
18	10787189	A	C	18	10787191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999894395005542	0.946
18	10787189	A	G	18	10787191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.75983943060414E-5	0.054
18	10787189	A	T	18	10787191	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0164387182286949	0.244
18	10787190	T	A	18	10787192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.55290551841734E-5	0.004
18	10787190	T	C	18	10787192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.60541592796219E-4	0.006
18	10787190	T	G	18	10787192	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.55290551841734E-5	0.002
18	10787191	C	A	18	10787193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.50586670439571E-5	0.03
18	10787191	C	G	18	10787193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.05988885630628E-4	0.006
18	10787191	C	T	18	10787193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00153095565938668	0.134
18	10787192	A	C	18	10787194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0325512979036296	0.464
18	10787192	A	G	18	10787194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0104401955266454	0.114
18	10787192	A	T	18	10787194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999876486489865	0.984
18	10787193	G	A	18	10787195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.1859143740578E-4	0.04
18	10787193	G	C	18	10787195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00120825205314487	0.058
18	10787193	G	T	18	10787195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.71697399500416E-4	0.104
18	10787194	A	C	18	10787196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.207312441212736	0.496
18	10787194	A	G	18	10787196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0123769837972273	0.156
18	10787194	A	T	18	10787196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.188082556139885	0.498
18	10789069	G	A	18	10789071	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.65263179188401E-5	0.012
18	10789069	G	C	18	10789071	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03311554407666E-4	0.092
18	10789069	G	T	18	10789071	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.72592930351797E-5	0.012
18	10789070	T	A	18	10789072	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.46552627156223E-5	0.0
18	10789070	T	C	18	10789072	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.35685261543061E-4	0.0
18	10789070	T	G	18	10789072	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.17564447662592E-4	0.0
18	10789071	A	C	18	10789073	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.41725578304345E-4	0.172
18	10789071	A	G	18	10789073	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00202943312531912	0.226
18	10789071	A	T	18	10789073	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00359816667540508	0.188
18	10789072	C	A	18	10789074	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999671672712246	0.93
18	10789072	C	G	18	10789074	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.9997926347709	0.884
18	10789072	C	T	18	10789074	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.990385166303004	0.62
18	10789073	C	A	18	10789075	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.93950159622447E-4	0.024
18	10789073	C	G	18	10789075	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.04277992534249E-4	0.016
18	10789073	C	T	18	10789075	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.097769632615E-4	0.038
18	10789074	T	A	18	10789076	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.120241618203052	0.44
18	10789074	T	C	18	10789076	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00101096566000252	0.05
18	10789074	T	G	18	10789076	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.120896248607423	0.398
18	10789075	A	C	18	10789077	y	y	splicing	PIEZO2(NM_022068:exon16:c.2169+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.2169+2T>G;ENST00000582913:exon16:c.2169+2T>G;ENST00000503781:exon16:c.2169+2T>G;ENST00000580640:exon16:c.2169+2T>G;ENST00000583325:exon4:c.156+2T>G)	.	.	0.99994568797423	0.944
18	10789075	A	G	18	10789077	y	y	splicing	PIEZO2(NM_022068:exon16:c.2169+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.2169+2T>C;ENST00000582913:exon16:c.2169+2T>C;ENST00000503781:exon16:c.2169+2T>C;ENST00000580640:exon16:c.2169+2T>C;ENST00000583325:exon4:c.156+2T>C)	.	.	0.971267832766595	0.716
18	10789075	A	T	18	10789077	y	y	splicing	PIEZO2(NM_022068:exon16:c.2169+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.2169+2T>A;ENST00000582913:exon16:c.2169+2T>A;ENST00000503781:exon16:c.2169+2T>A;ENST00000580640:exon16:c.2169+2T>A;ENST00000583325:exon4:c.156+2T>A)	.	.	0.99994568797423	0.934
18	10789076	C	A	18	10789078	y	y	splicing	PIEZO2(NM_022068:exon16:c.2169+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.2169+1G>T;ENST00000582913:exon16:c.2169+1G>T;ENST00000503781:exon16:c.2169+1G>T;ENST00000580640:exon16:c.2169+1G>T;ENST00000583325:exon4:c.156+1G>T)	.	.	0.999982737877662	0.932
18	10789076	C	G	18	10789078	y	y	splicing	PIEZO2(NM_022068:exon16:c.2169+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.2169+1G>C;ENST00000582913:exon16:c.2169+1G>C;ENST00000503781:exon16:c.2169+1G>C;ENST00000580640:exon16:c.2169+1G>C;ENST00000583325:exon4:c.156+1G>C)	.	.	0.99995545544995	0.93
18	10789076	C	T	18	10789078	y	y	splicing	PIEZO2(NM_022068:exon16:c.2169+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.2169+1G>A;ENST00000582913:exon16:c.2169+1G>A;ENST00000503781:exon16:c.2169+1G>A;ENST00000580640:exon16:c.2169+1G>A;ENST00000583325:exon4:c.156+1G>A)	.	.	0.999982737877662	0.938
18	10789077	C	A	18	10789079	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.G2169T:p.Q723H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.G2169T:p.Q723H;ENSG00000154864:ENST00000582913:exon15:c.G2169T:p.Q723H;ENSG00000154864:ENST00000503781:exon15:c.G2169T:p.Q723H;ENSG00000154864:ENST00000583325:exon3:c.G156T:p.Q52H;ENSG00000154864:ENST00000302079:exon15:c.G2169T:p.Q723H;	0.998667461799408	0.936
18	10789077	C	G	18	10789079	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.G2169C:p.Q723H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.G2169C:p.Q723H;ENSG00000154864:ENST00000582913:exon15:c.G2169C:p.Q723H;ENSG00000154864:ENST00000503781:exon15:c.G2169C:p.Q723H;ENSG00000154864:ENST00000583325:exon3:c.G156C:p.Q52H;ENSG00000154864:ENST00000302079:exon15:c.G2169C:p.Q723H;	0.999318016463908	0.85
18	10789077	C	T	18	10789079	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon15:c.G2169A:p.Q723Q;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.G2169A:p.Q723Q;ENSG00000154864:ENST00000582913:exon15:c.G2169A:p.Q723Q;ENSG00000154864:ENST00000503781:exon15:c.G2169A:p.Q723Q;ENSG00000154864:ENST00000583325:exon3:c.G156A:p.Q52Q;ENSG00000154864:ENST00000302079:exon15:c.G2169A:p.Q723Q;	0.996996995431477	0.752
18	10789078	T	A	18	10789080	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.A2168T:p.Q723L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.A2168T:p.Q723L;ENSG00000154864:ENST00000582913:exon15:c.A2168T:p.Q723L;ENSG00000154864:ENST00000503781:exon15:c.A2168T:p.Q723L;ENSG00000154864:ENST00000583325:exon3:c.A155T:p.Q52L;ENSG00000154864:ENST00000302079:exon15:c.A2168T:p.Q723L;	0.893609701674612	0.802
18	10789078	T	C	18	10789080	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.A2168G:p.Q723R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.A2168G:p.Q723R;ENSG00000154864:ENST00000582913:exon15:c.A2168G:p.Q723R;ENSG00000154864:ENST00000503781:exon15:c.A2168G:p.Q723R;ENSG00000154864:ENST00000583325:exon3:c.A155G:p.Q52R;ENSG00000154864:ENST00000302079:exon15:c.A2168G:p.Q723R;	0.507127568191789	0.528
18	10789078	T	G	18	10789080	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.A2168C:p.Q723P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.A2168C:p.Q723P;ENSG00000154864:ENST00000582913:exon15:c.A2168C:p.Q723P;ENSG00000154864:ENST00000503781:exon15:c.A2168C:p.Q723P;ENSG00000154864:ENST00000583325:exon3:c.A155C:p.Q52P;ENSG00000154864:ENST00000302079:exon15:c.A2168C:p.Q723P;	0.678638835569274	0.614
18	10789079	G	A	18	10789081	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon15:c.C2167T:p.Q723X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon15:c.C2167T:p.Q723X;ENSG00000154864:ENST00000582913:exon15:c.C2167T:p.Q723X;ENSG00000154864:ENST00000503781:exon15:c.C2167T:p.Q723X;ENSG00000154864:ENST00000583325:exon3:c.C154T:p.Q52X;ENSG00000154864:ENST00000302079:exon15:c.C2167T:p.Q723X;	0.998154019765789	0.818
18	10789079	G	C	18	10789081	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.C2167G:p.Q723E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.C2167G:p.Q723E;ENSG00000154864:ENST00000582913:exon15:c.C2167G:p.Q723E;ENSG00000154864:ENST00000503781:exon15:c.C2167G:p.Q723E;ENSG00000154864:ENST00000583325:exon3:c.C154G:p.Q52E;ENSG00000154864:ENST00000302079:exon15:c.C2167G:p.Q723E;	0.0411759449351322	0.11
18	10789079	G	T	18	10789081	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.C2167A:p.Q723K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.C2167A:p.Q723K;ENSG00000154864:ENST00000582913:exon15:c.C2167A:p.Q723K;ENSG00000154864:ENST00000503781:exon15:c.C2167A:p.Q723K;ENSG00000154864:ENST00000583325:exon3:c.C154A:p.Q52K;ENSG00000154864:ENST00000302079:exon15:c.C2167A:p.Q723K;	0.0841348129415149	0.19
18	10789362	A	C	18	10789364	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.T1884G:p.D628E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.T1884G:p.D628E;ENSG00000154864:ENST00000582913:exon15:c.T1884G:p.D628E;ENSG00000154864:ENST00000503781:exon15:c.T1884G:p.D628E;ENSG00000154864:ENST00000302079:exon15:c.T1884G:p.D628E;	0.0140343916735153	0.148
18	10789362	A	G	18	10789364	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon15:c.T1884C:p.D628D;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.T1884C:p.D628D;ENSG00000154864:ENST00000582913:exon15:c.T1884C:p.D628D;ENSG00000154864:ENST00000503781:exon15:c.T1884C:p.D628D;ENSG00000154864:ENST00000302079:exon15:c.T1884C:p.D628D;	0.0631349132313907	0.238
18	10789362	A	T	18	10789364	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.T1884A:p.D628E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.T1884A:p.D628E;ENSG00000154864:ENST00000582913:exon15:c.T1884A:p.D628E;ENSG00000154864:ENST00000503781:exon15:c.T1884A:p.D628E;ENSG00000154864:ENST00000302079:exon15:c.T1884A:p.D628E;	0.0200504326497224	0.186
18	10789363	T	A	18	10789365	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.A1883T:p.D628V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.A1883T:p.D628V;ENSG00000154864:ENST00000582913:exon15:c.A1883T:p.D628V;ENSG00000154864:ENST00000503781:exon15:c.A1883T:p.D628V;ENSG00000154864:ENST00000302079:exon15:c.A1883T:p.D628V;	0.0718498762780131	0.076
18	10789363	T	C	18	10789365	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.A1883G:p.D628G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.A1883G:p.D628G;ENSG00000154864:ENST00000582913:exon15:c.A1883G:p.D628G;ENSG00000154864:ENST00000503781:exon15:c.A1883G:p.D628G;ENSG00000154864:ENST00000302079:exon15:c.A1883G:p.D628G;	4.74535781092978E-4	0.016
18	10789363	T	G	18	10789365	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon15:c.A1883C:p.D628A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon15:c.A1883C:p.D628A;ENSG00000154864:ENST00000582913:exon15:c.A1883C:p.D628A;ENSG00000154864:ENST00000503781:exon15:c.A1883C:p.D628A;ENSG00000154864:ENST00000302079:exon15:c.A1883C:p.D628A;	0.00159528488507106	0.052
18	10789364	C	A	18	10789366	y	y	splicing	PIEZO2(NM_022068:exon16:c.1883-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.1883-1G>T;ENST00000582913:exon16:c.1883-1G>T;ENST00000503781:exon16:c.1883-1G>T;ENST00000580640:exon16:c.1883-1G>T)	.	.	0.999982627682474	0.902
18	10789364	C	G	18	10789366	y	y	splicing	PIEZO2(NM_022068:exon16:c.1883-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.1883-1G>C;ENST00000582913:exon16:c.1883-1G>C;ENST00000503781:exon16:c.1883-1G>C;ENST00000580640:exon16:c.1883-1G>C)	.	.	0.999982627682474	0.902
18	10789364	C	T	18	10789366	y	y	splicing	PIEZO2(NM_022068:exon16:c.1883-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.1883-1G>A;ENST00000582913:exon16:c.1883-1G>A;ENST00000503781:exon16:c.1883-1G>A;ENST00000580640:exon16:c.1883-1G>A)	.	.	0.999982627682474	0.902
18	10789365	T	A	18	10789367	y	y	splicing	PIEZO2(NM_022068:exon16:c.1883-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.1883-2A>T;ENST00000582913:exon16:c.1883-2A>T;ENST00000503781:exon16:c.1883-2A>T;ENST00000580640:exon16:c.1883-2A>T)	.	.	0.999979394981131	0.91
18	10789365	T	C	18	10789367	y	y	splicing	PIEZO2(NM_022068:exon16:c.1883-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.1883-2A>G;ENST00000582913:exon16:c.1883-2A>G;ENST00000503781:exon16:c.1883-2A>G;ENST00000580640:exon16:c.1883-2A>G)	.	.	0.999979394981131	0.91
18	10789365	T	G	18	10789367	y	y	splicing	PIEZO2(NM_022068:exon16:c.1883-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon16:c.1883-2A>C;ENST00000582913:exon16:c.1883-2A>C;ENST00000503781:exon16:c.1883-2A>C;ENST00000580640:exon16:c.1883-2A>C)	.	.	0.999979394981131	0.91
18	10789366	T	A	18	10789368	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00165255319851337	0.18
18	10789366	T	C	18	10789368	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.577260830419617	0.318
18	10789366	T	G	18	10789368	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.41793167110728E-4	0.074
18	10789367	C	A	18	10789369	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.19376423818292E-4	0.278
18	10789367	C	G	18	10789369	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.64328336118768E-4	0.016
18	10789367	C	T	18	10789369	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.60767090601699E-4	0.21
18	10789368	A	C	18	10789370	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.830975745060176	0.456
18	10789368	A	G	18	10789370	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0292148717804033	0.178
18	10789368	A	T	18	10789370	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999961894961505	0.958
18	10789369	A	C	18	10789371	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.308667773699732	0.19
18	10789369	A	G	18	10789371	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.98360826551262E-4	0.034
18	10789369	A	T	18	10789371	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.141327071657017	0.172
18	10789370	A	C	18	10789372	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999840465534316	0.974
18	10789370	A	G	18	10789372	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00198643121954732	0.038
18	10789370	A	T	18	10789372	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.206778213394297	0.154
18	10789371	T	A	18	10789373	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03311644960557E-4	0.028
18	10789371	T	C	18	10789373	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.14791331248971E-4	0.026
18	10789371	T	G	18	10789373	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.68762973000491E-4	0.048
18	10789372	A	C	18	10789374	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0309005945420382	0.322
18	10789372	A	G	18	10789374	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00893147068938813	0.16
18	10789372	A	T	18	10789374	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.102538776609727	0.346
18	10789373	G	A	18	10789375	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.28941556219897E-5	0.004
18	10789373	G	C	18	10789375	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.92460610664832E-4	0.05
18	10789373	G	T	18	10789375	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00377030402714219	0.088
18	10789374	A	C	18	10789376	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0512646459476928	0.344
18	10789374	A	G	18	10789376	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00288813288797791	0.188
18	10789374	A	T	18	10789376	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.513385380988534	0.384
18	10789375	A	C	18	10789377	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0920408299022249	0.342
18	10789375	A	G	18	10789377	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00429464705793499	0.08
18	10789375	A	T	18	10789377	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.200864777872833	0.404
18	10791191	T	A	18	10791193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.75454583482967E-5	0.0
18	10791191	T	C	18	10791193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.75454583482967E-5	0.0
18	10791191	T	G	18	10791193	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.72841159385093E-5	0.0
18	10791192	A	C	18	10791194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.86052245942493E-5	0.0
18	10791192	A	G	18	10791194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.86052245942493E-5	0.0
18	10791192	A	T	18	10791194	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.00592560072926E-5	0.0
18	10791193	A	C	18	10791195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00126511949969985	0.052
18	10791193	A	G	18	10791195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00126442266127777	0.066
18	10791193	A	T	18	10791195	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00150266827396355	0.028
18	10791194	T	A	18	10791196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00692696289540784	0.114
18	10791194	T	C	18	10791196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00635874149851069	0.054
18	10791194	T	G	18	10791196	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00274822653432417	0.124
18	10791195	T	A	18	10791197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.981527494771272	0.706
18	10791195	T	C	18	10791197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.898705759814221	0.596
18	10791195	T	G	18	10791197	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.80744747360884	0.592
18	10791196	T	A	18	10791198	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999624132283429	0.948
18	10791196	T	C	18	10791198	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99713862076183	0.878
18	10791196	T	G	18	10791198	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999100095975744	0.952
18	10791197	A	C	18	10791199	y	y	splicing	PIEZO2(NM_022068:exon15:c.1882+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1882+2T>G;ENST00000582913:exon15:c.1882+2T>G;ENST00000503781:exon15:c.1882+2T>G;ENST00000580640:exon15:c.1882+2T>G)	.	.	0.999989917668626	0.926
18	10791197	A	G	18	10791199	y	y	splicing	PIEZO2(NM_022068:exon15:c.1882+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1882+2T>C;ENST00000582913:exon15:c.1882+2T>C;ENST00000503781:exon15:c.1882+2T>C;ENST00000580640:exon15:c.1882+2T>C)	.	.	0.990945634311904	0.614
18	10791197	A	T	18	10791199	y	y	splicing	PIEZO2(NM_022068:exon15:c.1882+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1882+2T>A;ENST00000582913:exon15:c.1882+2T>A;ENST00000503781:exon15:c.1882+2T>A;ENST00000580640:exon15:c.1882+2T>A)	.	.	0.999989917668626	0.926
18	10791198	C	A	18	10791200	y	y	splicing	PIEZO2(NM_022068:exon15:c.1882+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1882+1G>T;ENST00000582913:exon15:c.1882+1G>T;ENST00000503781:exon15:c.1882+1G>T;ENST00000580640:exon15:c.1882+1G>T)	.	.	0.999986675681007	0.94
18	10791198	C	G	18	10791200	y	y	splicing	PIEZO2(NM_022068:exon15:c.1882+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1882+1G>C;ENST00000582913:exon15:c.1882+1G>C;ENST00000503781:exon15:c.1882+1G>C;ENST00000580640:exon15:c.1882+1G>C)	.	.	0.999986675681007	0.94
18	10791198	C	T	18	10791200	y	y	splicing	PIEZO2(NM_022068:exon15:c.1882+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1882+1G>A;ENST00000582913:exon15:c.1882+1G>A;ENST00000503781:exon15:c.1882+1G>A;ENST00000580640:exon15:c.1882+1G>A)	.	.	0.999986675681007	0.94
18	10791199	C	A	18	10791201	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.G1882T:p.D628Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.G1882T:p.D628Y;ENSG00000154864:ENST00000582913:exon14:c.G1882T:p.D628Y;ENSG00000154864:ENST00000503781:exon14:c.G1882T:p.D628Y;ENSG00000154864:ENST00000302079:exon14:c.G1882T:p.D628Y;	0.999140266207938	0.914
18	10791199	C	G	18	10791201	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.G1882C:p.D628H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.G1882C:p.D628H;ENSG00000154864:ENST00000582913:exon14:c.G1882C:p.D628H;ENSG00000154864:ENST00000503781:exon14:c.G1882C:p.D628H;ENSG00000154864:ENST00000302079:exon14:c.G1882C:p.D628H;	0.999990154142299	0.942
18	10791199	C	T	18	10791201	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.G1882A:p.D628N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.G1882A:p.D628N;ENSG00000154864:ENST00000582913:exon14:c.G1882A:p.D628N;ENSG00000154864:ENST00000503781:exon14:c.G1882A:p.D628N;ENSG00000154864:ENST00000302079:exon14:c.G1882A:p.D628N;	0.999554283252139	0.99
18	10791200	T	A	18	10791202	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.A1881T:p.K627N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1881T:p.K627N;ENSG00000154864:ENST00000582913:exon14:c.A1881T:p.K627N;ENSG00000154864:ENST00000503781:exon14:c.A1881T:p.K627N;ENSG00000154864:ENST00000302079:exon14:c.A1881T:p.K627N;	0.919903148421317	0.666
18	10791200	T	C	18	10791202	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon14:c.A1881G:p.K627K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1881G:p.K627K;ENSG00000154864:ENST00000582913:exon14:c.A1881G:p.K627K;ENSG00000154864:ENST00000503781:exon14:c.A1881G:p.K627K;ENSG00000154864:ENST00000302079:exon14:c.A1881G:p.K627K;	0.868656728893287	0.592
18	10791200	T	G	18	10791202	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.A1881C:p.K627N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1881C:p.K627N;ENSG00000154864:ENST00000582913:exon14:c.A1881C:p.K627N;ENSG00000154864:ENST00000503781:exon14:c.A1881C:p.K627N;ENSG00000154864:ENST00000302079:exon14:c.A1881C:p.K627N;	0.16860082351714	0.372
18	10791201	T	A	18	10791203	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.A1880T:p.K627I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1880T:p.K627I;ENSG00000154864:ENST00000582913:exon14:c.A1880T:p.K627I;ENSG00000154864:ENST00000503781:exon14:c.A1880T:p.K627I;ENSG00000154864:ENST00000302079:exon14:c.A1880T:p.K627I;	0.127790861798654	0.474
18	10791201	T	C	18	10791203	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.A1880G:p.K627R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1880G:p.K627R;ENSG00000154864:ENST00000582913:exon14:c.A1880G:p.K627R;ENSG00000154864:ENST00000503781:exon14:c.A1880G:p.K627R;ENSG00000154864:ENST00000302079:exon14:c.A1880G:p.K627R;	4.32729257709713E-4	0.01
18	10791201	T	G	18	10791203	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.A1880C:p.K627T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1880C:p.K627T;ENSG00000154864:ENST00000582913:exon14:c.A1880C:p.K627T;ENSG00000154864:ENST00000503781:exon14:c.A1880C:p.K627T;ENSG00000154864:ENST00000302079:exon14:c.A1880C:p.K627T;	4.67717238454254E-4	0.006
18	10791321	A	C	18	10791323	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.T1760G:p.I587S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.T1760G:p.I587S;ENSG00000154864:ENST00000582913:exon14:c.T1760G:p.I587S;ENSG00000154864:ENST00000503781:exon14:c.T1760G:p.I587S;ENSG00000154864:ENST00000302079:exon14:c.T1760G:p.I587S;	0.021517298675995	0.096
18	10791321	A	G	18	10791323	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.T1760C:p.I587T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.T1760C:p.I587T;ENSG00000154864:ENST00000582913:exon14:c.T1760C:p.I587T;ENSG00000154864:ENST00000503781:exon14:c.T1760C:p.I587T;ENSG00000154864:ENST00000302079:exon14:c.T1760C:p.I587T;	0.0259182651245748	0.104
18	10791321	A	T	18	10791323	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.T1760A:p.I587N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.T1760A:p.I587N;ENSG00000154864:ENST00000582913:exon14:c.T1760A:p.I587N;ENSG00000154864:ENST00000503781:exon14:c.T1760A:p.I587N;ENSG00000154864:ENST00000302079:exon14:c.T1760A:p.I587N;	0.021517298675995	0.078
18	10791322	T	A	18	10791324	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.A1759T:p.I587F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1759T:p.I587F;ENSG00000154864:ENST00000582913:exon14:c.A1759T:p.I587F;ENSG00000154864:ENST00000503781:exon14:c.A1759T:p.I587F;ENSG00000154864:ENST00000302079:exon14:c.A1759T:p.I587F;	0.0368466238594425	0.158
18	10791322	T	C	18	10791324	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.A1759G:p.I587V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1759G:p.I587V;ENSG00000154864:ENST00000582913:exon14:c.A1759G:p.I587V;ENSG00000154864:ENST00000503781:exon14:c.A1759G:p.I587V;ENSG00000154864:ENST00000302079:exon14:c.A1759G:p.I587V;	0.00237372136859666	0.02
18	10791322	T	G	18	10791324	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon14:c.A1759C:p.I587L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon14:c.A1759C:p.I587L;ENSG00000154864:ENST00000582913:exon14:c.A1759C:p.I587L;ENSG00000154864:ENST00000503781:exon14:c.A1759C:p.I587L;ENSG00000154864:ENST00000302079:exon14:c.A1759C:p.I587L;	0.0168666022611279	0.174
18	10791323	C	A	18	10791325	y	y	splicing	PIEZO2(NM_022068:exon15:c.1759-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1759-1G>T;ENST00000582913:exon15:c.1759-1G>T;ENST00000503781:exon15:c.1759-1G>T;ENST00000580640:exon15:c.1759-1G>T)	.	.	0.999986675681007	0.938
18	10791323	C	G	18	10791325	y	y	splicing	PIEZO2(NM_022068:exon15:c.1759-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1759-1G>C;ENST00000582913:exon15:c.1759-1G>C;ENST00000503781:exon15:c.1759-1G>C;ENST00000580640:exon15:c.1759-1G>C)	.	.	0.999986675681007	0.938
18	10791323	C	T	18	10791325	y	y	splicing	PIEZO2(NM_022068:exon15:c.1759-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1759-1G>A;ENST00000582913:exon15:c.1759-1G>A;ENST00000503781:exon15:c.1759-1G>A;ENST00000580640:exon15:c.1759-1G>A)	.	.	0.999986675681007	0.938
18	10791324	T	A	18	10791326	y	y	splicing	PIEZO2(NM_022068:exon15:c.1759-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1759-2A>T;ENST00000582913:exon15:c.1759-2A>T;ENST00000503781:exon15:c.1759-2A>T;ENST00000580640:exon15:c.1759-2A>T)	.	.	0.999989917668626	0.926
18	10791324	T	C	18	10791326	y	y	splicing	PIEZO2(NM_022068:exon15:c.1759-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1759-2A>G;ENST00000582913:exon15:c.1759-2A>G;ENST00000503781:exon15:c.1759-2A>G;ENST00000580640:exon15:c.1759-2A>G)	.	.	0.999989917668626	0.926
18	10791324	T	G	18	10791326	y	y	splicing	PIEZO2(NM_022068:exon15:c.1759-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon15:c.1759-2A>C;ENST00000582913:exon15:c.1759-2A>C;ENST00000503781:exon15:c.1759-2A>C;ENST00000580640:exon15:c.1759-2A>C)	.	.	0.999989917668626	0.926
18	10791325	G	A	18	10791327	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0206598824085524	0.19
18	10791325	G	C	18	10791327	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99961479016669	0.948
18	10791325	G	T	18	10791327	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.955055642035001	0.666
18	10791326	A	C	18	10791328	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.23781174962655E-4	0.004
18	10791326	A	G	18	10791328	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.31654523943599E-5	0.0
18	10791326	A	T	18	10791328	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.49849860135395E-5	0.0
18	10791327	A	C	18	10791329	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0304785356578787	0.342
18	10791327	A	G	18	10791329	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.81337115626495E-4	0.024
18	10791327	A	T	18	10791329	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0436604325882532	0.374
18	10791328	A	C	18	10791330	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.016506238322555	0.132
18	10791328	A	G	18	10791330	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.50472949674294E-5	0.0
18	10791328	A	T	18	10791330	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00623100582678012	0.05
18	10791329	G	A	18	10791331	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.48837398857178E-5	0.0
18	10791329	G	C	18	10791331	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997479672338849	0.928
18	10791329	G	T	18	10791331	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.13794606263796E-4	0.016
18	10791330	T	A	18	10791332	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.47772077419509E-5	0.0
18	10791330	T	C	18	10791332	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.07430059465403E-5	0.004
18	10791330	T	G	18	10791332	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.67069706920125E-5	0.002
18	10791331	A	C	18	10791333	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00822435063165337	0.142
18	10791331	A	G	18	10791333	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.63489195316821E-4	0.054
18	10791331	A	T	18	10791333	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0258231334853617	0.146
18	10791332	G	A	18	10791334	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.67007036811774E-4	0.008
18	10791332	G	C	18	10791334	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00966241742448809	0.07
18	10791332	G	T	18	10791334	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0087336056255547	0.08
18	10791333	A	C	18	10791335	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0877124618950306	0.388
18	10791333	A	G	18	10791335	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0115036821509907	0.148
18	10791333	A	T	18	10791335	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.107613287601507	0.448
18	10791334	G	A	18	10791336	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.11688350098375E-4	0.006
18	10791334	G	C	18	10791336	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00361865499949716	0.236
18	10791334	G	T	18	10791336	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0067536283846534	0.122
18	10791453	C	A	18	10791455	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.3994564522384E-5	0.016
18	10791453	C	G	18	10791455	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.3994564522384E-5	0.022
18	10791453	C	T	18	10791455	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.3994564522384E-5	0.016
18	10791454	A	C	18	10791456	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.27163650926202E-4	0.12
18	10791454	A	G	18	10791456	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.27163650926202E-4	0.036
18	10791454	A	T	18	10791456	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.69884688945688E-4	0.004
18	10791455	G	A	18	10791457	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.44571914076258E-5	0.0
18	10791455	G	C	18	10791457	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.33984070840462E-5	0.0
18	10791455	G	T	18	10791457	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.33984070840462E-5	0.0
18	10791456	G	A	18	10791458	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.41069364790736E-5	0.01
18	10791456	G	C	18	10791458	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.41069364790736E-5	0.006
18	10791456	G	T	18	10791458	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.41069364790736E-5	0.006
18	10791457	T	A	18	10791459	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.46004206284423E-5	0.0
18	10791457	T	C	18	10791459	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.46004206284423E-5	0.0
18	10791457	T	G	18	10791459	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.46004206284423E-5	0.0
18	10791458	C	A	18	10791460	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.91125889811943E-5	0.006
18	10791458	C	G	18	10791460	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.06907936306152E-5	0.002
18	10791458	C	T	18	10791460	n	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.91125889811943E-5	0.006
18	10791459	A	C	18	10791461	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	9.33930376896499E-5	0.0
18	10791459	A	G	18	10791461	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	9.33930376896499E-5	0.0
18	10791459	A	T	18	10791461	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	9.33930376896499E-5	0.0
18	10791460	C	A	18	10791462	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	5.47959532904733E-5	0.016
18	10791460	C	G	18	10791462	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	5.47959532904733E-5	0.012
18	10791460	C	T	18	10791462	n	y	intronic	PIEZO2	.	.	splicing	ENSG00000154864	.	.	5.47959532904733E-5	0.124
18	10791461	C	A	18	10791463	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	6.24453633365032E-5	0.0
18	10791461	C	G	18	10791463	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	7.5364181533214E-5	0.0
18	10791461	C	T	18	10791463	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	6.24453633365032E-5	0.0
18	10791462	T	A	18	10791464	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	5.69439264402225E-5	0.0
18	10791462	T	C	18	10791464	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	5.69439264402225E-5	0.0
18	10791462	T	G	18	10791464	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	5.69439264402225E-5	0.0
18	10791463	G	A	18	10791465	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	5.15941453541388E-5	0.002
18	10791463	G	C	18	10791465	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	6.89925739660516E-5	0.024
18	10791463	G	T	18	10791465	n	y	intronic	PIEZO2	.	.	UTR5	ENSG00000154864	.	.	5.15941453541388E-5	0.002
18	10794762	T	A	18	10794764	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.02336642354038E-5	0.0
18	10794762	T	C	18	10794764	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.61282204316264E-5	0.0
18	10794762	T	G	18	10794764	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.61282204316264E-5	0.0
18	10794763	C	A	18	10794765	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.68573923937549E-5	0.004
18	10794763	C	G	18	10794765	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.28745571504188E-5	0.0
18	10794763	C	T	18	10794765	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.41799195017108E-5	0.002
18	10794764	A	C	18	10794766	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0204726912768987	0.22
18	10794764	A	G	18	10794766	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0357064610808719	0.242
18	10794764	A	T	18	10794766	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.162233107063258	0.272
18	10794765	C	A	18	10794767	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998401391714392	0.824
18	10794765	C	G	18	10794767	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.985416256559134	0.762
18	10794765	C	T	18	10794767	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.957048164339923	0.778
18	10794766	T	A	18	10794768	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.905528512896807	0.69
18	10794766	T	C	18	10794768	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.804582093722336	0.692
18	10794766	T	G	18	10794768	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.405732332946563	0.508
18	10794767	T	A	18	10794769	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.979251089324593	0.71
18	10794767	T	C	18	10794769	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00123304779508774	0.11
18	10794767	T	G	18	10794769	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999715020427329	0.86
18	10794768	A	C	18	10794770	y	y	splicing	PIEZO2(NM_022068:exon14:c.1758+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1758+2T>G;ENST00000582913:exon14:c.1758+2T>G;ENST00000503781:exon14:c.1758+2T>G;ENST00000580640:exon14:c.1758+2T>G)	.	.	0.999982175009191	0.924
18	10794768	A	G	18	10794770	y	y	splicing	PIEZO2(NM_022068:exon14:c.1758+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1758+2T>C;ENST00000582913:exon14:c.1758+2T>C;ENST00000503781:exon14:c.1758+2T>C;ENST00000580640:exon14:c.1758+2T>C)	.	.	0.991002331998228	0.62
18	10794768	A	T	18	10794770	y	y	splicing	PIEZO2(NM_022068:exon14:c.1758+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1758+2T>A;ENST00000582913:exon14:c.1758+2T>A;ENST00000503781:exon14:c.1758+2T>A;ENST00000580640:exon14:c.1758+2T>A)	.	.	0.999987212236324	0.926
18	10794769	C	A	18	10794771	y	y	splicing	PIEZO2(NM_022068:exon14:c.1758+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1758+1G>T;ENST00000582913:exon14:c.1758+1G>T;ENST00000503781:exon14:c.1758+1G>T;ENST00000580640:exon14:c.1758+1G>T)	.	.	0.999986675681007	0.93
18	10794769	C	G	18	10794771	y	y	splicing	PIEZO2(NM_022068:exon14:c.1758+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1758+1G>C;ENST00000582913:exon14:c.1758+1G>C;ENST00000503781:exon14:c.1758+1G>C;ENST00000580640:exon14:c.1758+1G>C)	.	.	0.999986675681007	0.93
18	10794769	C	T	18	10794771	y	y	splicing	PIEZO2(NM_022068:exon14:c.1758+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1758+1G>A;ENST00000582913:exon14:c.1758+1G>A;ENST00000503781:exon14:c.1758+1G>A;ENST00000580640:exon14:c.1758+1G>A)	.	.	0.999986675681007	0.93
18	10794770	T	A	18	10794772	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.A1758T:p.K586N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.A1758T:p.K586N;ENSG00000154864:ENST00000582913:exon13:c.A1758T:p.K586N;ENSG00000154864:ENST00000503781:exon13:c.A1758T:p.K586N;ENSG00000154864:ENST00000302079:exon13:c.A1758T:p.K586N;	5.89460534732772E-4	0.016
18	10794770	T	C	18	10794772	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon13:c.A1758G:p.K586K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.A1758G:p.K586K;ENSG00000154864:ENST00000582913:exon13:c.A1758G:p.K586K;ENSG00000154864:ENST00000503781:exon13:c.A1758G:p.K586K;ENSG00000154864:ENST00000302079:exon13:c.A1758G:p.K586K;	2.74759178129382E-5	0.02
18	10794770	T	G	18	10794772	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.A1758C:p.K586N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.A1758C:p.K586N;ENSG00000154864:ENST00000582913:exon13:c.A1758C:p.K586N;ENSG00000154864:ENST00000503781:exon13:c.A1758C:p.K586N;ENSG00000154864:ENST00000302079:exon13:c.A1758C:p.K586N;	2.85468211952495E-5	0.004
18	10794771	T	A	18	10794773	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.A1757T:p.K586I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.A1757T:p.K586I;ENSG00000154864:ENST00000582913:exon13:c.A1757T:p.K586I;ENSG00000154864:ENST00000503781:exon13:c.A1757T:p.K586I;ENSG00000154864:ENST00000302079:exon13:c.A1757T:p.K586I;	0.726882259802071	0.728
18	10794771	T	C	18	10794773	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.A1757G:p.K586R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.A1757G:p.K586R;ENSG00000154864:ENST00000582913:exon13:c.A1757G:p.K586R;ENSG00000154864:ENST00000503781:exon13:c.A1757G:p.K586R;ENSG00000154864:ENST00000302079:exon13:c.A1757G:p.K586R;	0.700323823987442	0.448
18	10794771	T	G	18	10794773	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.A1757C:p.K586T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.A1757C:p.K586T;ENSG00000154864:ENST00000582913:exon13:c.A1757C:p.K586T;ENSG00000154864:ENST00000503781:exon13:c.A1757C:p.K586T;ENSG00000154864:ENST00000302079:exon13:c.A1757C:p.K586T;	0.543683654161558	0.656
18	10794772	T	A	18	10794774	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon13:c.A1756T:p.K586X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon13:c.A1756T:p.K586X;ENSG00000154864:ENST00000582913:exon13:c.A1756T:p.K586X;ENSG00000154864:ENST00000503781:exon13:c.A1756T:p.K586X;ENSG00000154864:ENST00000302079:exon13:c.A1756T:p.K586X;	0.848618869499446	0.634
18	10794772	T	C	18	10794774	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.A1756G:p.K586E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.A1756G:p.K586E;ENSG00000154864:ENST00000582913:exon13:c.A1756G:p.K586E;ENSG00000154864:ENST00000503781:exon13:c.A1756G:p.K586E;ENSG00000154864:ENST00000302079:exon13:c.A1756G:p.K586E;	0.0083006439448892	0.11
18	10794772	T	G	18	10794774	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.A1756C:p.K586Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.A1756C:p.K586Q;ENSG00000154864:ENST00000582913:exon13:c.A1756C:p.K586Q;ENSG00000154864:ENST00000503781:exon13:c.A1756C:p.K586Q;ENSG00000154864:ENST00000302079:exon13:c.A1756C:p.K586Q;	0.0030315692684693	0.034
18	10794999	G	A	18	10795001	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.C1529T:p.A510V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.C1529T:p.A510V;ENSG00000154864:ENST00000582913:exon13:c.C1529T:p.A510V;ENSG00000154864:ENST00000503781:exon13:c.C1529T:p.A510V;ENSG00000154864:ENST00000302079:exon13:c.C1529T:p.A510V;	0.39306460485478	0.52
18	10794999	G	C	18	10795001	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.C1529G:p.A510G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.C1529G:p.A510G;ENSG00000154864:ENST00000582913:exon13:c.C1529G:p.A510G;ENSG00000154864:ENST00000503781:exon13:c.C1529G:p.A510G;ENSG00000154864:ENST00000302079:exon13:c.C1529G:p.A510G;	0.106887975829783	0.34
18	10794999	G	T	18	10795001	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.C1529A:p.A510D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.C1529A:p.A510D;ENSG00000154864:ENST00000582913:exon13:c.C1529A:p.A510D;ENSG00000154864:ENST00000503781:exon13:c.C1529A:p.A510D;ENSG00000154864:ENST00000302079:exon13:c.C1529A:p.A510D;	0.0206428298693239	0.15
18	10795000	C	A	18	10795002	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.G1528T:p.A510S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.G1528T:p.A510S;ENSG00000154864:ENST00000582913:exon13:c.G1528T:p.A510S;ENSG00000154864:ENST00000503781:exon13:c.G1528T:p.A510S;ENSG00000154864:ENST00000302079:exon13:c.G1528T:p.A510S;	0.999827298514748	0.978
18	10795000	C	G	18	10795002	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.G1528C:p.A510P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.G1528C:p.A510P;ENSG00000154864:ENST00000582913:exon13:c.G1528C:p.A510P;ENSG00000154864:ENST00000503781:exon13:c.G1528C:p.A510P;ENSG00000154864:ENST00000302079:exon13:c.G1528C:p.A510P;	0.999727872724009	0.896
18	10795000	C	T	18	10795002	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon13:c.G1528A:p.A510T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon13:c.G1528A:p.A510T;ENSG00000154864:ENST00000582913:exon13:c.G1528A:p.A510T;ENSG00000154864:ENST00000503781:exon13:c.G1528A:p.A510T;ENSG00000154864:ENST00000302079:exon13:c.G1528A:p.A510T;	0.999184781059519	0.814
18	10795001	C	A	18	10795003	y	y	splicing	PIEZO2(NM_022068:exon14:c.1528-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1528-1G>T;ENST00000582913:exon14:c.1528-1G>T;ENST00000503781:exon14:c.1528-1G>T;ENST00000580640:exon14:c.1528-1G>T)	.	.	0.999976638640456	0.904
18	10795001	C	G	18	10795003	y	y	splicing	PIEZO2(NM_022068:exon14:c.1528-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1528-1G>C;ENST00000582913:exon14:c.1528-1G>C;ENST00000503781:exon14:c.1528-1G>C;ENST00000580640:exon14:c.1528-1G>C)	.	.	0.999976638640456	0.912
18	10795001	C	T	18	10795003	y	y	splicing	PIEZO2(NM_022068:exon14:c.1528-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1528-1G>A;ENST00000582913:exon14:c.1528-1G>A;ENST00000503781:exon14:c.1528-1G>A;ENST00000580640:exon14:c.1528-1G>A)	.	.	0.999976638640456	0.914
18	10795002	T	A	18	10795004	y	y	splicing	PIEZO2(NM_022068:exon14:c.1528-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1528-2A>T;ENST00000582913:exon14:c.1528-2A>T;ENST00000503781:exon14:c.1528-2A>T;ENST00000580640:exon14:c.1528-2A>T)	.	.	0.99997252866418	0.896
18	10795002	T	C	18	10795004	y	y	splicing	PIEZO2(NM_022068:exon14:c.1528-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1528-2A>G;ENST00000582913:exon14:c.1528-2A>G;ENST00000503781:exon14:c.1528-2A>G;ENST00000580640:exon14:c.1528-2A>G)	.	.	0.99997252866418	0.9
18	10795002	T	G	18	10795004	y	y	splicing	PIEZO2(NM_022068:exon14:c.1528-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon14:c.1528-2A>C;ENST00000582913:exon14:c.1528-2A>C;ENST00000503781:exon14:c.1528-2A>C;ENST00000580640:exon14:c.1528-2A>C)	.	.	0.99997252866418	0.9
18	10795003	C	A	18	10795005	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.00684534904205E-5	0.0
18	10795003	C	G	18	10795005	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.95012994714293E-5	0.012
18	10795003	C	T	18	10795005	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.99333129484634E-5	0.018
18	10795004	C	A	18	10795006	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.49121493596863E-5	0.044
18	10795004	C	G	18	10795006	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.15706584765855E-5	0.02
18	10795004	C	T	18	10795006	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.81083439777696E-5	0.044
18	10795005	G	A	18	10795007	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.8396897849808E-5	0.004
18	10795005	G	C	18	10795007	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00678196618083445	0.258
18	10795005	G	T	18	10795007	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.93618014112219	0.372
18	10795006	G	A	18	10795008	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.46366177649569E-5	0.094
18	10795006	G	C	18	10795008	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.181708203197815	0.264
18	10795006	G	T	18	10795008	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.487503163268015	0.324
18	10795007	A	C	18	10795009	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.039947961269902	0.158
18	10795007	A	G	18	10795009	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00814151219593365	0.054
18	10795007	A	T	18	10795009	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.00469181650422E-4	0.162
18	10795008	G	A	18	10795010	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.13738634602103E-4	0.136
18	10795008	G	C	18	10795010	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00102878666661964	0.212
18	10795008	G	T	18	10795010	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.023698755042215	0.2
18	10795009	G	A	18	10795011	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.6935127977013E-4	0.072
18	10795009	G	C	18	10795011	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0515674935233202	0.27
18	10795009	G	T	18	10795011	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.078378697351257	0.274
18	10795010	A	C	18	10795012	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.272508818828335	0.228
18	10795010	A	G	18	10795012	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0439004600843267	0.096
18	10795010	A	T	18	10795012	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.383030887525514	0.254
18	10795011	C	A	18	10795013	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.8767598680664E-5	0.066
18	10795011	C	G	18	10795013	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.42129568827754E-6	0.018
18	10795011	C	T	18	10795013	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0130118333214516	0.126
18	10795012	A	C	18	10795014	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.437750359081607	0.294
18	10795012	A	G	18	10795014	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00692479730270579	0.148
18	10795012	A	T	18	10795014	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999943783896901	0.97
18	10797364	A	C	18	10797366	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0203819403271378	0.226
18	10797364	A	G	18	10797366	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.05672041200205	0.308
18	10797364	A	T	18	10797366	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0393354853916791	0.294
18	10797365	T	A	18	10797367	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.177873829358E-4	0.0
18	10797365	T	C	18	10797367	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.34184528897689E-5	0.008
18	10797365	T	G	18	10797367	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.05446895406687E-5	0.004
18	10797366	A	C	18	10797368	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999112061203074	0.858
18	10797366	A	G	18	10797368	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.994118786997943	0.776
18	10797366	A	T	18	10797368	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999389483881962	0.774
18	10797367	C	A	18	10797369	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999922410811092	0.95
18	10797367	C	G	18	10797369	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999971439761874	0.992
18	10797367	C	T	18	10797369	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99995748122197	0.982
18	10797368	A	C	18	10797370	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.14607035579706E-5	0.004
18	10797368	A	G	18	10797370	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.71550046635666E-5	0.0
18	10797368	A	T	18	10797370	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.3556279961131E-5	0.034
18	10797369	T	A	18	10797371	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.981884131328774	0.768
18	10797369	T	C	18	10797371	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.808042729107133	0.64
18	10797369	T	G	18	10797371	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996317733946784	0.83
18	10797370	A	C	18	10797372	y	y	splicing	PIEZO2(NM_022068:exon13:c.1527+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1527+2T>G;ENST00000582913:exon13:c.1527+2T>G;ENST00000503781:exon13:c.1527+2T>G;ENST00000580640:exon13:c.1527+2T>G)	.	.	0.999988247793601	0.928
18	10797370	A	G	18	10797372	y	y	splicing	PIEZO2(NM_022068:exon13:c.1527+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1527+2T>C;ENST00000582913:exon13:c.1527+2T>C;ENST00000503781:exon13:c.1527+2T>C;ENST00000580640:exon13:c.1527+2T>C)	.	.	0.99340600729494	0.648
18	10797370	A	T	18	10797372	y	y	splicing	PIEZO2(NM_022068:exon13:c.1527+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1527+2T>A;ENST00000582913:exon13:c.1527+2T>A;ENST00000503781:exon13:c.1527+2T>A;ENST00000580640:exon13:c.1527+2T>A)	.	.	0.999988247793601	0.928
18	10797371	C	A	18	10797373	y	y	splicing	PIEZO2(NM_022068:exon13:c.1527+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1527+1G>T;ENST00000582913:exon13:c.1527+1G>T;ENST00000503781:exon13:c.1527+1G>T;ENST00000580640:exon13:c.1527+1G>T)	.	.	0.999985532734767	0.936
18	10797371	C	G	18	10797373	y	y	splicing	PIEZO2(NM_022068:exon13:c.1527+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1527+1G>C;ENST00000582913:exon13:c.1527+1G>C;ENST00000503781:exon13:c.1527+1G>C;ENST00000580640:exon13:c.1527+1G>C)	.	.	0.999985532734767	0.936
18	10797371	C	T	18	10797373	y	y	splicing	PIEZO2(NM_022068:exon13:c.1527+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1527+1G>A;ENST00000582913:exon13:c.1527+1G>A;ENST00000503781:exon13:c.1527+1G>A;ENST00000580640:exon13:c.1527+1G>A)	.	.	0.999985532734767	0.936
18	10797372	C	A	18	10797374	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.G1527T:p.M509I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.G1527T:p.M509I;ENSG00000154864:ENST00000582913:exon12:c.G1527T:p.M509I;ENSG00000154864:ENST00000503781:exon12:c.G1527T:p.M509I;ENSG00000154864:ENST00000302079:exon12:c.G1527T:p.M509I;	0.999906195127169	1.0
18	10797372	C	G	18	10797374	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.G1527C:p.M509I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.G1527C:p.M509I;ENSG00000154864:ENST00000582913:exon12:c.G1527C:p.M509I;ENSG00000154864:ENST00000503781:exon12:c.G1527C:p.M509I;ENSG00000154864:ENST00000302079:exon12:c.G1527C:p.M509I;	0.999977333663065	0.964
18	10797372	C	T	18	10797374	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.G1527A:p.M509I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.G1527A:p.M509I;ENSG00000154864:ENST00000582913:exon12:c.G1527A:p.M509I;ENSG00000154864:ENST00000503781:exon12:c.G1527A:p.M509I;ENSG00000154864:ENST00000302079:exon12:c.G1527A:p.M509I;	0.999964412846732	0.998
18	10797373	A	C	18	10797375	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.T1526G:p.M509R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.T1526G:p.M509R;ENSG00000154864:ENST00000582913:exon12:c.T1526G:p.M509R;ENSG00000154864:ENST00000503781:exon12:c.T1526G:p.M509R;ENSG00000154864:ENST00000302079:exon12:c.T1526G:p.M509R;	0.0871121866828451	0.322
18	10797373	A	G	18	10797375	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.T1526C:p.M509T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.T1526C:p.M509T;ENSG00000154864:ENST00000582913:exon12:c.T1526C:p.M509T;ENSG00000154864:ENST00000503781:exon12:c.T1526C:p.M509T;ENSG00000154864:ENST00000302079:exon12:c.T1526C:p.M509T;	0.0184290650036001	0.166
18	10797373	A	T	18	10797375	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.T1526A:p.M509K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.T1526A:p.M509K;ENSG00000154864:ENST00000582913:exon12:c.T1526A:p.M509K;ENSG00000154864:ENST00000503781:exon12:c.T1526A:p.M509K;ENSG00000154864:ENST00000302079:exon12:c.T1526A:p.M509K;	0.0663829042135853	0.318
18	10797374	T	A	18	10797376	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.A1525T:p.M509L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1525T:p.M509L;ENSG00000154864:ENST00000582913:exon12:c.A1525T:p.M509L;ENSG00000154864:ENST00000503781:exon12:c.A1525T:p.M509L;ENSG00000154864:ENST00000302079:exon12:c.A1525T:p.M509L;	0.919842539511962	0.62
18	10797374	T	C	18	10797376	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.A1525G:p.M509V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1525G:p.M509V;ENSG00000154864:ENST00000582913:exon12:c.A1525G:p.M509V;ENSG00000154864:ENST00000503781:exon12:c.A1525G:p.M509V;ENSG00000154864:ENST00000302079:exon12:c.A1525G:p.M509V;	0.00961631022440606	0.22
18	10797374	T	G	18	10797376	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.A1525C:p.M509L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1525C:p.M509L;ENSG00000154864:ENST00000582913:exon12:c.A1525C:p.M509L;ENSG00000154864:ENST00000503781:exon12:c.A1525C:p.M509L;ENSG00000154864:ENST00000302079:exon12:c.A1525C:p.M509L;	0.13851809014424	0.428
18	10797519	T	A	18	10797521	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.A1380T:p.E460D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1380T:p.E460D;ENSG00000154864:ENST00000582913:exon12:c.A1380T:p.E460D;ENSG00000154864:ENST00000503781:exon12:c.A1380T:p.E460D;ENSG00000154864:ENST00000302079:exon12:c.A1380T:p.E460D;	5.65252512891818E-4	0.042
18	10797519	T	C	18	10797521	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon12:c.A1380G:p.E460E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1380G:p.E460E;ENSG00000154864:ENST00000582913:exon12:c.A1380G:p.E460E;ENSG00000154864:ENST00000503781:exon12:c.A1380G:p.E460E;ENSG00000154864:ENST00000302079:exon12:c.A1380G:p.E460E;	0.00128752384863955	0.078
18	10797519	T	G	18	10797521	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.A1380C:p.E460D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1380C:p.E460D;ENSG00000154864:ENST00000582913:exon12:c.A1380C:p.E460D;ENSG00000154864:ENST00000503781:exon12:c.A1380C:p.E460D;ENSG00000154864:ENST00000302079:exon12:c.A1380C:p.E460D;	0.00485952738475448	0.072
18	10797520	T	A	18	10797522	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.A1379T:p.E460V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1379T:p.E460V;ENSG00000154864:ENST00000582913:exon12:c.A1379T:p.E460V;ENSG00000154864:ENST00000503781:exon12:c.A1379T:p.E460V;ENSG00000154864:ENST00000302079:exon12:c.A1379T:p.E460V;	0.0313388703980499	0.188
18	10797520	T	C	18	10797522	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.A1379G:p.E460G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1379G:p.E460G;ENSG00000154864:ENST00000582913:exon12:c.A1379G:p.E460G;ENSG00000154864:ENST00000503781:exon12:c.A1379G:p.E460G;ENSG00000154864:ENST00000302079:exon12:c.A1379G:p.E460G;	0.0012959750149363	0.026
18	10797520	T	G	18	10797522	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon12:c.A1379C:p.E460A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon12:c.A1379C:p.E460A;ENSG00000154864:ENST00000582913:exon12:c.A1379C:p.E460A;ENSG00000154864:ENST00000503781:exon12:c.A1379C:p.E460A;ENSG00000154864:ENST00000302079:exon12:c.A1379C:p.E460A;	0.0531872177204897	0.218
18	10797521	C	A	18	10797523	y	y	splicing	PIEZO2(NM_022068:exon13:c.1379-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1379-1G>T;ENST00000582913:exon13:c.1379-1G>T;ENST00000503781:exon13:c.1379-1G>T;ENST00000580640:exon13:c.1379-1G>T;ENST00000579112:exon6:c.507-1G>T)	.	.	0.999982627682474	0.92
18	10797521	C	G	18	10797523	y	y	splicing	PIEZO2(NM_022068:exon13:c.1379-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1379-1G>C;ENST00000582913:exon13:c.1379-1G>C;ENST00000503781:exon13:c.1379-1G>C;ENST00000580640:exon13:c.1379-1G>C;ENST00000579112:exon6:c.507-1G>C)	.	.	0.999982627682474	0.92
18	10797521	C	T	18	10797523	y	y	splicing	PIEZO2(NM_022068:exon13:c.1379-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1379-1G>A;ENST00000582913:exon13:c.1379-1G>A;ENST00000503781:exon13:c.1379-1G>A;ENST00000580640:exon13:c.1379-1G>A;ENST00000579112:exon6:c.507-1G>A)	.	.	0.999982627682474	0.92
18	10797522	T	A	18	10797524	y	y	splicing	PIEZO2(NM_022068:exon13:c.1379-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1379-2A>T;ENST00000582913:exon13:c.1379-2A>T;ENST00000503781:exon13:c.1379-2A>T;ENST00000580640:exon13:c.1379-2A>T;ENST00000579112:exon6:c.507-2A>T)	.	.	0.999979394981131	0.924
18	10797522	T	C	18	10797524	y	y	splicing	PIEZO2(NM_022068:exon13:c.1379-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1379-2A>G;ENST00000582913:exon13:c.1379-2A>G;ENST00000503781:exon13:c.1379-2A>G;ENST00000580640:exon13:c.1379-2A>G;ENST00000579112:exon6:c.507-2A>G)	.	.	0.999979394981131	0.924
18	10797522	T	G	18	10797524	y	y	splicing	PIEZO2(NM_022068:exon13:c.1379-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon13:c.1379-2A>C;ENST00000582913:exon13:c.1379-2A>C;ENST00000503781:exon13:c.1379-2A>C;ENST00000580640:exon13:c.1379-2A>C;ENST00000579112:exon6:c.507-2A>C)	.	.	0.999979394981131	0.924
18	10797523	A	C	18	10797525	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.996736449907809	0.834
18	10797523	A	G	18	10797525	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.8607905608188E-4	0.014
18	10797523	A	T	18	10797525	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.964181782308093	0.552
18	10797524	G	A	18	10797526	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.62003101386341E-4	0.064
18	10797524	G	C	18	10797526	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00104750119829673	0.068
18	10797524	G	T	18	10797526	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00135418102752244	0.244
18	10797525	A	C	18	10797527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999919088696323	0.952
18	10797525	A	G	18	10797527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0275074223194327	0.208
18	10797525	A	T	18	10797527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.557518740438057	0.51
18	10797526	T	A	18	10797528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.58014279518912E-4	0.068
18	10797526	T	C	18	10797528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00130036074155193	0.09
18	10797526	T	G	18	10797528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.58014279518912E-4	0.07
18	10797527	G	A	18	10797529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.32082630963261E-4	0.126
18	10797527	G	C	18	10797529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0215738031458178	0.234
18	10797527	G	T	18	10797529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.261888028519267	0.32
18	10797528	G	A	18	10797530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.43766042321877E-5	0.066
18	10797528	G	C	18	10797530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00342445330531117	0.124
18	10797528	G	T	18	10797530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0268758220994215	0.192
18	10797529	A	C	18	10797531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.94337048386168	0.714
18	10797529	A	G	18	10797531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00137354406791489	0.102
18	10797529	A	T	18	10797531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.970097821542814	0.72
18	10797530	C	A	18	10797532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.93898099819673E-5	0.018
18	10797530	C	G	18	10797532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.38302678022919E-5	0.006
18	10797530	C	T	18	10797532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00127937958996021	0.012
18	10797531	G	A	18	10797533	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.94735652906342E-5	0.008
18	10797531	G	C	18	10797533	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0104437136163156	0.166
18	10797531	G	T	18	10797533	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999716119876114	0.974
18	10797532	A	C	18	10797534	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00912540605338387	0.316
18	10797532	A	G	18	10797534	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.70104288977449E-4	0.058
18	10797532	A	T	18	10797534	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.116098909707832	0.436
18	10800327	G	A	18	10800329	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.0137201333722E-4	0.0
18	10800327	G	C	18	10800329	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.47919362721453E-4	0.12
18	10800327	G	T	18	10800329	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.34995841846762E-4	0.002
18	10800328	C	A	18	10800330	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.6319484272667E-5	0.006
18	10800328	C	G	18	10800330	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.98449269220386E-5	0.002
18	10800328	C	T	18	10800330	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.98449269220386E-5	0.002
18	10800329	T	A	18	10800331	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.38829354566909E-5	0.01
18	10800329	T	C	18	10800331	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.26976238074534E-5	0.0
18	10800329	T	G	18	10800331	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.78380700332762E-4	0.01
18	10800330	C	A	18	10800332	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.983921062649284	0.388
18	10800330	C	G	18	10800332	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.932581830465118	0.412
18	10800330	C	T	18	10800332	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.352587506637738	0.298
18	10800331	C	A	18	10800333	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.59964553252795E-5	0.024
18	10800331	C	G	18	10800333	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.4846684338163E-5	0.034
18	10800331	C	T	18	10800333	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.70856539641723E-4	0.09
18	10800332	T	A	18	10800334	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.891705687152875	0.546
18	10800332	T	C	18	10800334	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00698270669449069	0.162
18	10800332	T	G	18	10800334	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.702957738000361	0.504
18	10800333	A	C	18	10800335	y	y	splicing	PIEZO2(NM_022068:exon12:c.1378+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1378+2T>G;ENST00000582913:exon12:c.1378+2T>G;ENST00000503781:exon12:c.1378+2T>G;ENST00000580640:exon12:c.1378+2T>G;ENST00000579112:exon5:c.506+2T>G)	.	.	0.999988247793601	0.926
18	10800333	A	G	18	10800335	y	y	splicing	PIEZO2(NM_022068:exon12:c.1378+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1378+2T>C;ENST00000582913:exon12:c.1378+2T>C;ENST00000503781:exon12:c.1378+2T>C;ENST00000580640:exon12:c.1378+2T>C;ENST00000579112:exon5:c.506+2T>C)	.	.	0.98918007292081	0.63
18	10800333	A	T	18	10800335	y	y	splicing	PIEZO2(NM_022068:exon12:c.1378+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1378+2T>A;ENST00000582913:exon12:c.1378+2T>A;ENST00000503781:exon12:c.1378+2T>A;ENST00000580640:exon12:c.1378+2T>A;ENST00000579112:exon5:c.506+2T>A)	.	.	0.999988247793601	0.926
18	10800334	C	A	18	10800336	y	y	splicing	PIEZO2(NM_022068:exon12:c.1378+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1378+1G>T;ENST00000582913:exon12:c.1378+1G>T;ENST00000503781:exon12:c.1378+1G>T;ENST00000580640:exon12:c.1378+1G>T;ENST00000579112:exon5:c.506+1G>T)	.	.	0.999985532734767	0.934
18	10800334	C	G	18	10800336	y	y	splicing	PIEZO2(NM_022068:exon12:c.1378+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1378+1G>C;ENST00000582913:exon12:c.1378+1G>C;ENST00000503781:exon12:c.1378+1G>C;ENST00000580640:exon12:c.1378+1G>C;ENST00000579112:exon5:c.506+1G>C)	.	.	0.999985532734767	0.934
18	10800334	C	T	18	10800336	y	y	splicing	PIEZO2(NM_022068:exon12:c.1378+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1378+1G>A;ENST00000582913:exon12:c.1378+1G>A;ENST00000503781:exon12:c.1378+1G>A;ENST00000580640:exon12:c.1378+1G>A;ENST00000579112:exon5:c.506+1G>A)	.	.	0.999985532734767	0.936
18	10800335	C	A	18	10800337	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon11:c.G1378T:p.E460X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon11:c.G1378T:p.E460X;ENSG00000154864:ENST00000582913:exon11:c.G1378T:p.E460X;ENSG00000154864:ENST00000503781:exon11:c.G1378T:p.E460X;ENSG00000154864:ENST00000302079:exon11:c.G1378T:p.E460X;	0.999990199114687	1.0
18	10800335	C	G	18	10800337	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.G1378C:p.E460Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.G1378C:p.E460Q;ENSG00000154864:ENST00000582913:exon11:c.G1378C:p.E460Q;ENSG00000154864:ENST00000503781:exon11:c.G1378C:p.E460Q;ENSG00000154864:ENST00000302079:exon11:c.G1378C:p.E460Q;	0.99998129018989	0.996
18	10800335	C	T	18	10800337	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.G1378A:p.E460K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.G1378A:p.E460K;ENSG00000154864:ENST00000582913:exon11:c.G1378A:p.E460K;ENSG00000154864:ENST00000503781:exon11:c.G1378A:p.E460K;ENSG00000154864:ENST00000302079:exon11:c.G1378A:p.E460K;	0.999948555306781	0.99
18	10800336	T	A	18	10800338	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon11:c.A1377T:p.S459S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.A1377T:p.S459S;ENSG00000154864:ENST00000582913:exon11:c.A1377T:p.S459S;ENSG00000154864:ENST00000503781:exon11:c.A1377T:p.S459S;ENSG00000154864:ENST00000302079:exon11:c.A1377T:p.S459S;	0.916528309768104	0.65
18	10800336	T	C	18	10800338	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon11:c.A1377G:p.S459S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.A1377G:p.S459S;ENSG00000154864:ENST00000582913:exon11:c.A1377G:p.S459S;ENSG00000154864:ENST00000503781:exon11:c.A1377G:p.S459S;ENSG00000154864:ENST00000302079:exon11:c.A1377G:p.S459S;	0.59090459628588	0.542
18	10800336	T	G	18	10800338	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon11:c.A1377C:p.S459S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.A1377C:p.S459S;ENSG00000154864:ENST00000582913:exon11:c.A1377C:p.S459S;ENSG00000154864:ENST00000503781:exon11:c.A1377C:p.S459S;ENSG00000154864:ENST00000302079:exon11:c.A1377C:p.S459S;	0.379875164546627	0.566
18	10800337	G	A	18	10800339	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.C1376T:p.S459L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.C1376T:p.S459L;ENSG00000154864:ENST00000582913:exon11:c.C1376T:p.S459L;ENSG00000154864:ENST00000503781:exon11:c.C1376T:p.S459L;ENSG00000154864:ENST00000302079:exon11:c.C1376T:p.S459L;	0.997207405759147	0.882
18	10800337	G	C	18	10800339	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon11:c.C1376G:p.S459X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon11:c.C1376G:p.S459X;ENSG00000154864:ENST00000582913:exon11:c.C1376G:p.S459X;ENSG00000154864:ENST00000503781:exon11:c.C1376G:p.S459X;ENSG00000154864:ENST00000302079:exon11:c.C1376G:p.S459X;	0.874718177373503	0.676
18	10800337	G	T	18	10800339	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon11:c.C1376A:p.S459X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon11:c.C1376A:p.S459X;ENSG00000154864:ENST00000582913:exon11:c.C1376A:p.S459X;ENSG00000154864:ENST00000503781:exon11:c.C1376A:p.S459X;ENSG00000154864:ENST00000302079:exon11:c.C1376A:p.S459X;	0.936496629047016	0.804
18	10800472	C	A	18	10800474	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.G1241T:p.G414V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.G1241T:p.G414V;ENSG00000154864:ENST00000582913:exon11:c.G1241T:p.G414V;ENSG00000154864:ENST00000503781:exon11:c.G1241T:p.G414V;ENSG00000154864:ENST00000302079:exon11:c.G1241T:p.G414V;	0.00337467613908967	0.064
18	10800472	C	G	18	10800474	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.G1241C:p.G414A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.G1241C:p.G414A;ENSG00000154864:ENST00000582913:exon11:c.G1241C:p.G414A;ENSG00000154864:ENST00000503781:exon11:c.G1241C:p.G414A;ENSG00000154864:ENST00000302079:exon11:c.G1241C:p.G414A;	0.00423119290473862	0.082
18	10800472	C	T	18	10800474	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.G1241A:p.G414D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.G1241A:p.G414D;ENSG00000154864:ENST00000582913:exon11:c.G1241A:p.G414D;ENSG00000154864:ENST00000503781:exon11:c.G1241A:p.G414D;ENSG00000154864:ENST00000302079:exon11:c.G1241A:p.G414D;	0.00770139543368541	0.108
18	10800473	C	A	18	10800475	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.G1240T:p.G414C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.G1240T:p.G414C;ENSG00000154864:ENST00000582913:exon11:c.G1240T:p.G414C;ENSG00000154864:ENST00000503781:exon11:c.G1240T:p.G414C;ENSG00000154864:ENST00000302079:exon11:c.G1240T:p.G414C;	0.292150274809984	0.56
18	10800473	C	G	18	10800475	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.G1240C:p.G414R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.G1240C:p.G414R;ENSG00000154864:ENST00000582913:exon11:c.G1240C:p.G414R;ENSG00000154864:ENST00000503781:exon11:c.G1240C:p.G414R;ENSG00000154864:ENST00000302079:exon11:c.G1240C:p.G414R;	0.259113695550424	0.48
18	10800473	C	T	18	10800475	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon11:c.G1240A:p.G414S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon11:c.G1240A:p.G414S;ENSG00000154864:ENST00000582913:exon11:c.G1240A:p.G414S;ENSG00000154864:ENST00000503781:exon11:c.G1240A:p.G414S;ENSG00000154864:ENST00000302079:exon11:c.G1240A:p.G414S;	0.420436542738535	0.374
18	10800474	C	A	18	10800476	y	y	splicing	PIEZO2(NM_022068:exon12:c.1240-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1240-1G>T;ENST00000582913:exon12:c.1240-1G>T;ENST00000503781:exon12:c.1240-1G>T;ENST00000580640:exon12:c.1240-1G>T;ENST00000579112:exon5:c.368-1G>T)	.	.	0.999988630721284	0.936
18	10800474	C	G	18	10800476	y	y	splicing	PIEZO2(NM_022068:exon12:c.1240-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1240-1G>C;ENST00000582913:exon12:c.1240-1G>C;ENST00000503781:exon12:c.1240-1G>C;ENST00000580640:exon12:c.1240-1G>C;ENST00000579112:exon5:c.368-1G>C)	.	.	0.999979638402497	0.934
18	10800474	C	T	18	10800476	y	y	splicing	PIEZO2(NM_022068:exon12:c.1240-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1240-1G>A;ENST00000582913:exon12:c.1240-1G>A;ENST00000503781:exon12:c.1240-1G>A;ENST00000580640:exon12:c.1240-1G>A;ENST00000579112:exon5:c.368-1G>A)	.	.	0.999988630721284	0.936
18	10800475	T	A	18	10800477	y	y	splicing	PIEZO2(NM_022068:exon12:c.1240-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1240-2A>T;ENST00000582913:exon12:c.1240-2A>T;ENST00000503781:exon12:c.1240-2A>T;ENST00000580640:exon12:c.1240-2A>T;ENST00000579112:exon5:c.368-2A>T)	.	.	0.999983459627143	0.934
18	10800475	T	C	18	10800477	y	y	splicing	PIEZO2(NM_022068:exon12:c.1240-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1240-2A>G;ENST00000582913:exon12:c.1240-2A>G;ENST00000503781:exon12:c.1240-2A>G;ENST00000580640:exon12:c.1240-2A>G;ENST00000579112:exon5:c.368-2A>G)	.	.	0.99997694424406	0.932
18	10800475	T	G	18	10800477	y	y	splicing	PIEZO2(NM_022068:exon12:c.1240-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon12:c.1240-2A>C;ENST00000582913:exon12:c.1240-2A>C;ENST00000503781:exon12:c.1240-2A>C;ENST00000580640:exon12:c.1240-2A>C;ENST00000579112:exon5:c.368-2A>C)	.	.	0.99997694424406	0.932
18	10800476	G	A	18	10800478	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00737321928736468	0.132
18	10800476	G	C	18	10800478	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999490603540174	0.918
18	10800476	G	T	18	10800478	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.976957179371867	0.83
18	10800477	C	A	18	10800479	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.8299223393239E-5	0.016
18	10800477	C	G	18	10800479	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.43955058258424E-5	0.002
18	10800477	C	T	18	10800479	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.74701626684119E-5	0.0
18	10800478	C	A	18	10800480	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.92392370694866E-5	0.01
18	10800478	C	G	18	10800480	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.98782883364485E-5	0.014
18	10800478	C	T	18	10800480	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.453517823482486	0.564
18	10800479	G	A	18	10800481	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.29795582892512E-5	0.0
18	10800479	G	C	18	10800481	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.96088853384463E-4	0.08
18	10800479	G	T	18	10800481	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993497234154899	0.846
18	10800480	G	A	18	10800482	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.60292249043967E-5	0.0
18	10800480	G	C	18	10800482	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00195130897737803	0.11
18	10800480	G	T	18	10800482	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.46761188529779E-4	0.06
18	10800481	G	A	18	10800483	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.10276143287614E-4	0.038
18	10800481	G	C	18	10800483	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0164534204320749	0.138
18	10800481	G	T	18	10800483	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00574775179327463	0.134
18	10800482	A	C	18	10800484	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00663981082105141	0.144
18	10800482	A	G	18	10800484	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00127170064935371	0.058
18	10800482	A	T	18	10800484	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.194637059290951	0.366
18	10800483	G	A	18	10800485	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.25783660313257E-4	0.004
18	10800483	G	C	18	10800485	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999498134286047	0.976
18	10800483	G	T	18	10800485	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00220815828566757	0.032
18	10800484	T	A	18	10800486	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.00039214875855E-4	0.096
18	10800484	T	C	18	10800486	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.03625362072401E-5	0.006
18	10800484	T	G	18	10800486	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.16401692457836E-5	0.0
18	10800485	G	A	18	10800487	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.41159663535474E-5	0.0
18	10800485	G	C	18	10800487	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.90960268347291E-4	0.018
18	10800485	G	T	18	10800487	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.2661083346238E-4	0.014
18	10801380	A	C	18	10801382	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0300448672893146	.
18	10801380	A	G	18	10801382	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0526933895704495	.
18	10801380	A	T	18	10801382	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0300448672893146	.
18	10801381	T	A	18	10801383	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.987064340303557	.
18	10801381	T	C	18	10801383	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.909627576025628	.
18	10801381	T	G	18	10801383	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.918725399457264	.
18	10801382	A	C	18	10801384	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999801783371209	.
18	10801382	A	G	18	10801384	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999869286878385	.
18	10801382	A	T	18	10801384	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999933063625344	.
18	10801383	C	A	18	10801385	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999983905883046	.
18	10801383	C	G	18	10801385	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999978625139274	.
18	10801383	C	T	18	10801385	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.9999853352829	.
18	10801384	T	A	18	10801386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999972790123072	.
18	10801384	T	C	18	10801386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999934961218045	.
18	10801384	T	G	18	10801386	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999925082136103	.
18	10801385	A	C	18	10801387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.213316467856069	.
18	10801385	A	G	18	10801387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.939485305965441	.
18	10801385	A	T	18	10801387	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.367439233129402	.
18	10801386	A	C	18	10801388	y	y	splicing	PIEZO2(NM_022068:exon11:c.1239+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1239+2T>G;ENST00000582913:exon11:c.1239+2T>G;ENST00000503781:exon11:c.1239+2T>G;ENST00000580640:exon11:c.1239+2T>G)	.	.	0.999990764389106	.
18	10801386	A	G	18	10801388	y	y	splicing	PIEZO2(NM_022068:exon11:c.1239+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1239+2T>C;ENST00000582913:exon11:c.1239+2T>C;ENST00000503781:exon11:c.1239+2T>C;ENST00000580640:exon11:c.1239+2T>C)	.	.	0.993778259714772	.
18	10801386	A	T	18	10801388	y	y	splicing	PIEZO2(NM_022068:exon11:c.1239+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1239+2T>A;ENST00000582913:exon11:c.1239+2T>A;ENST00000503781:exon11:c.1239+2T>A;ENST00000580640:exon11:c.1239+2T>A)	.	.	0.999990764389106	.
18	10801387	C	A	18	10801389	y	y	splicing	PIEZO2(NM_022068:exon11:c.1239+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1239+1G>T;ENST00000582913:exon11:c.1239+1G>T;ENST00000503781:exon11:c.1239+1G>T;ENST00000580640:exon11:c.1239+1G>T)	.	.	0.999992425382947	.
18	10801387	C	G	18	10801389	y	y	splicing	PIEZO2(NM_022068:exon11:c.1239+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1239+1G>C;ENST00000582913:exon11:c.1239+1G>C;ENST00000503781:exon11:c.1239+1G>C;ENST00000580640:exon11:c.1239+1G>C)	.	.	0.999992425382947	.
18	10801387	C	T	18	10801389	y	y	splicing	PIEZO2(NM_022068:exon11:c.1239+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1239+1G>A;ENST00000582913:exon11:c.1239+1G>A;ENST00000503781:exon11:c.1239+1G>A;ENST00000580640:exon11:c.1239+1G>A)	.	.	0.999992425382947	.
18	10801388	A	C	18	10801390	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.T1239G:p.D413E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.T1239G:p.D413E;ENSG00000154864:ENST00000582913:exon10:c.T1239G:p.D413E;ENSG00000154864:ENST00000503781:exon10:c.T1239G:p.D413E;ENSG00000154864:ENST00000302079:exon10:c.T1239G:p.D413E;	7.37691115532512E-4	.
18	10801388	A	G	18	10801390	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon10:c.T1239C:p.D413D;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.T1239C:p.D413D;ENSG00000154864:ENST00000582913:exon10:c.T1239C:p.D413D;ENSG00000154864:ENST00000503781:exon10:c.T1239C:p.D413D;ENSG00000154864:ENST00000302079:exon10:c.T1239C:p.D413D;	0.0345497026818859	.
18	10801388	A	T	18	10801390	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.T1239A:p.D413E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.T1239A:p.D413E;ENSG00000154864:ENST00000582913:exon10:c.T1239A:p.D413E;ENSG00000154864:ENST00000503781:exon10:c.T1239A:p.D413E;ENSG00000154864:ENST00000302079:exon10:c.T1239A:p.D413E;	0.00262132997136598	.
18	10801389	T	A	18	10801391	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.A1238T:p.D413V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.A1238T:p.D413V;ENSG00000154864:ENST00000582913:exon10:c.A1238T:p.D413V;ENSG00000154864:ENST00000503781:exon10:c.A1238T:p.D413V;ENSG00000154864:ENST00000302079:exon10:c.A1238T:p.D413V;	0.999929625475213	.
18	10801389	T	C	18	10801391	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.A1238G:p.D413G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.A1238G:p.D413G;ENSG00000154864:ENST00000582913:exon10:c.A1238G:p.D413G;ENSG00000154864:ENST00000503781:exon10:c.A1238G:p.D413G;ENSG00000154864:ENST00000302079:exon10:c.A1238G:p.D413G;	0.999727469829661	.
18	10801389	T	G	18	10801391	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.A1238C:p.D413A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.A1238C:p.D413A;ENSG00000154864:ENST00000582913:exon10:c.A1238C:p.D413A;ENSG00000154864:ENST00000503781:exon10:c.A1238C:p.D413A;ENSG00000154864:ENST00000302079:exon10:c.A1238C:p.D413A;	0.999852627420639	.
18	10801390	C	A	18	10801392	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.G1237T:p.D413Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.G1237T:p.D413Y;ENSG00000154864:ENST00000582913:exon10:c.G1237T:p.D413Y;ENSG00000154864:ENST00000503781:exon10:c.G1237T:p.D413Y;ENSG00000154864:ENST00000302079:exon10:c.G1237T:p.D413Y;	0.972938858512034	.
18	10801390	C	G	18	10801392	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.G1237C:p.D413H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.G1237C:p.D413H;ENSG00000154864:ENST00000582913:exon10:c.G1237C:p.D413H;ENSG00000154864:ENST00000503781:exon10:c.G1237C:p.D413H;ENSG00000154864:ENST00000302079:exon10:c.G1237C:p.D413H;	0.567799709417832	.
18	10801390	C	T	18	10801392	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.G1237A:p.D413N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.G1237A:p.D413N;ENSG00000154864:ENST00000582913:exon10:c.G1237A:p.D413N;ENSG00000154864:ENST00000503781:exon10:c.G1237A:p.D413N;ENSG00000154864:ENST00000302079:exon10:c.G1237A:p.D413N;	0.956730122207254	.
18	10801425	A	C	18	10801427	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.T1202G:p.L401R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.T1202G:p.L401R;ENSG00000154864:ENST00000582913:exon10:c.T1202G:p.L401R;ENSG00000154864:ENST00000503781:exon10:c.T1202G:p.L401R;ENSG00000154864:ENST00000302079:exon10:c.T1202G:p.L401R;	0.0147931442979467	0.204
18	10801425	A	G	18	10801427	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.T1202C:p.L401P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.T1202C:p.L401P;ENSG00000154864:ENST00000582913:exon10:c.T1202C:p.L401P;ENSG00000154864:ENST00000503781:exon10:c.T1202C:p.L401P;ENSG00000154864:ENST00000302079:exon10:c.T1202C:p.L401P;	0.0183640143448047	0.132
18	10801425	A	T	18	10801427	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.T1202A:p.L401H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.T1202A:p.L401H;ENSG00000154864:ENST00000582913:exon10:c.T1202A:p.L401H;ENSG00000154864:ENST00000503781:exon10:c.T1202A:p.L401H;ENSG00000154864:ENST00000302079:exon10:c.T1202A:p.L401H;	0.0231929256114018	0.16
18	10801426	G	A	18	10801428	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.C1201T:p.L401F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.C1201T:p.L401F;ENSG00000154864:ENST00000582913:exon10:c.C1201T:p.L401F;ENSG00000154864:ENST00000503781:exon10:c.C1201T:p.L401F;ENSG00000154864:ENST00000302079:exon10:c.C1201T:p.L401F;	0.964801483635969	0.742
18	10801426	G	C	18	10801428	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.C1201G:p.L401V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.C1201G:p.L401V;ENSG00000154864:ENST00000582913:exon10:c.C1201G:p.L401V;ENSG00000154864:ENST00000503781:exon10:c.C1201G:p.L401V;ENSG00000154864:ENST00000302079:exon10:c.C1201G:p.L401V;	0.171893287641582	0.196
18	10801426	G	T	18	10801428	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon10:c.C1201A:p.L401I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon10:c.C1201A:p.L401I;ENSG00000154864:ENST00000582913:exon10:c.C1201A:p.L401I;ENSG00000154864:ENST00000503781:exon10:c.C1201A:p.L401I;ENSG00000154864:ENST00000302079:exon10:c.C1201A:p.L401I;	0.606820927183335	0.566
18	10801427	C	A	18	10801429	y	y	splicing	PIEZO2(NM_022068:exon11:c.1201-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1201-1G>T;ENST00000582913:exon11:c.1201-1G>T;ENST00000503781:exon11:c.1201-1G>T;ENST00000580640:exon11:c.1201-1G>T)	.	.	0.999990361384395	0.938
18	10801427	C	G	18	10801429	y	y	splicing	PIEZO2(NM_022068:exon11:c.1201-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1201-1G>C;ENST00000582913:exon11:c.1201-1G>C;ENST00000503781:exon11:c.1201-1G>C;ENST00000580640:exon11:c.1201-1G>C)	.	.	0.999990361384395	0.938
18	10801427	C	T	18	10801429	y	y	splicing	PIEZO2(NM_022068:exon11:c.1201-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1201-1G>A;ENST00000582913:exon11:c.1201-1G>A;ENST00000503781:exon11:c.1201-1G>A;ENST00000580640:exon11:c.1201-1G>A)	.	.	0.999990361384395	0.938
18	10801428	T	A	18	10801430	y	y	splicing	PIEZO2(NM_022068:exon11:c.1201-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1201-2A>T;ENST00000582913:exon11:c.1201-2A>T;ENST00000503781:exon11:c.1201-2A>T;ENST00000580640:exon11:c.1201-2A>T)	.	.	0.999988247793601	0.932
18	10801428	T	C	18	10801430	y	y	splicing	PIEZO2(NM_022068:exon11:c.1201-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1201-2A>G;ENST00000582913:exon11:c.1201-2A>G;ENST00000503781:exon11:c.1201-2A>G;ENST00000580640:exon11:c.1201-2A>G)	.	.	0.999988247793601	0.932
18	10801428	T	G	18	10801430	y	y	splicing	PIEZO2(NM_022068:exon11:c.1201-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon11:c.1201-2A>C;ENST00000582913:exon11:c.1201-2A>C;ENST00000503781:exon11:c.1201-2A>C;ENST00000580640:exon11:c.1201-2A>C)	.	.	0.999988247793601	0.932
18	10801429	G	A	18	10801431	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.981293655006703	0.378
18	10801429	G	C	18	10801431	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999953667727123	0.972
18	10801429	G	T	18	10801431	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99988616931729	0.96
18	10801430	C	A	18	10801432	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0131833386802154	0.08
18	10801430	C	G	18	10801432	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00733559000563917	0.14
18	10801430	C	T	18	10801432	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0148294833740996	0.082
18	10801431	A	C	18	10801433	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.952698216882315	0.768
18	10801431	A	G	18	10801433	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00767839979944804	0.044
18	10801431	A	T	18	10801433	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999454949687569	0.96
18	10801432	A	C	18	10801434	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.943057854448303	0.848
18	10801432	A	G	18	10801434	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00249391766354545	0.144
18	10801432	A	T	18	10801434	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993906297173651	0.886
18	10801433	A	C	18	10801435	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.798327453615376	0.712
18	10801433	A	G	18	10801435	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00181314159989225	0.124
18	10801433	A	T	18	10801435	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.944705004419731	0.74
18	10801434	A	C	18	10801436	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0306540825852887	0.214
18	10801434	A	G	18	10801436	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.96950931464297E-5	0.008
18	10801434	A	T	18	10801436	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.030399062165484	0.262
18	10801435	A	C	18	10801437	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.832079241236548	0.588
18	10801435	A	G	18	10801437	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00165831187604142	0.05
18	10801435	A	T	18	10801437	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.920643353879918	0.66
18	10801436	G	A	18	10801438	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.253206068091934	0.564
18	10801436	G	C	18	10801438	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0488113581391057	0.286
18	10801436	G	T	18	10801438	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0602110109802721	0.322
18	10801437	C	A	18	10801439	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.369380839094997	0.436
18	10801437	C	G	18	10801439	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.387939758134821	0.45
18	10801437	C	T	18	10801439	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.271186537005913	0.356
18	10801438	A	C	18	10801440	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997642144418263	0.902
18	10801438	A	G	18	10801440	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.254285070687966	0.424
18	10801438	A	T	18	10801440	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999977511181306	0.966
18	10803865	T	A	18	10803867	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.0339478167547E-5	0.0
18	10803865	T	C	18	10803867	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.45016355604485E-5	0.0
18	10803865	T	G	18	10803867	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.0339478167547E-5	0.0
18	10803866	G	A	18	10803868	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.23455607504255E-4	0.008
18	10803866	G	C	18	10803868	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.83960671213037E-4	0.01
18	10803866	G	T	18	10803868	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.25809763019188E-4	0.016
18	10803867	G	A	18	10803869	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.35984711151512E-5	0.014
18	10803867	G	C	18	10803869	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.07440075818169E-4	0.026
18	10803867	G	T	18	10803869	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.65482237446286E-5	0.032
18	10803868	C	A	18	10803870	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999977260438432	0.996
18	10803868	C	G	18	10803870	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999653680901715	0.912
18	10803868	C	T	18	10803870	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999966038659401	0.952
18	10803869	T	A	18	10803871	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993217846180995	0.878
18	10803869	T	C	18	10803871	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.989664862518798	0.83
18	10803869	T	G	18	10803871	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.912798105275549	0.736
18	10803870	T	A	18	10803872	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999832989288743	0.934
18	10803870	T	C	18	10803872	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.350562351940859	0.41
18	10803870	T	G	18	10803872	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999810664822817	0.91
18	10803871	A	C	18	10803873	y	y	splicing	PIEZO2(NM_022068:exon10:c.1200+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1200+2T>G;ENST00000582913:exon10:c.1200+2T>G;ENST00000503781:exon10:c.1200+2T>G;ENST00000580640:exon10:c.1200+2T>G;ENST00000579112:exon4:c.367+2T>G)	.	.	0.999989917668626	0.928
18	10803871	A	G	18	10803873	y	y	splicing	PIEZO2(NM_022068:exon10:c.1200+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1200+2T>C;ENST00000582913:exon10:c.1200+2T>C;ENST00000503781:exon10:c.1200+2T>C;ENST00000580640:exon10:c.1200+2T>C;ENST00000579112:exon4:c.367+2T>C)	.	.	0.993179459523591	0.62
18	10803871	A	T	18	10803873	y	y	splicing	PIEZO2(NM_022068:exon10:c.1200+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1200+2T>A;ENST00000582913:exon10:c.1200+2T>A;ENST00000503781:exon10:c.1200+2T>A;ENST00000580640:exon10:c.1200+2T>A;ENST00000579112:exon4:c.367+2T>A)	.	.	0.999989917668626	0.928
18	10803872	C	A	18	10803874	y	y	splicing	PIEZO2(NM_022068:exon10:c.1200+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1200+1G>T;ENST00000582913:exon10:c.1200+1G>T;ENST00000503781:exon10:c.1200+1G>T;ENST00000580640:exon10:c.1200+1G>T;ENST00000579112:exon4:c.367+1G>T)	.	.	0.999981760802075	0.944
18	10803872	C	G	18	10803874	y	y	splicing	PIEZO2(NM_022068:exon10:c.1200+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1200+1G>C;ENST00000582913:exon10:c.1200+1G>C;ENST00000503781:exon10:c.1200+1G>C;ENST00000580640:exon10:c.1200+1G>C;ENST00000579112:exon4:c.367+1G>C)	.	.	0.999981760802075	0.944
18	10803872	C	T	18	10803874	y	y	splicing	PIEZO2(NM_022068:exon10:c.1200+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1200+1G>A;ENST00000582913:exon10:c.1200+1G>A;ENST00000503781:exon10:c.1200+1G>A;ENST00000580640:exon10:c.1200+1G>A;ENST00000579112:exon4:c.367+1G>A)	.	.	0.999981760802075	0.944
18	10803873	T	A	18	10803875	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.A1200T:p.K400N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.A1200T:p.K400N;ENSG00000154864:ENST00000582913:exon9:c.A1200T:p.K400N;ENSG00000154864:ENST00000503781:exon9:c.A1200T:p.K400N;ENSG00000154864:ENST00000302079:exon9:c.A1200T:p.K400N;	0.00159209783501854	0.084
18	10803873	T	C	18	10803875	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon9:c.A1200G:p.K400K;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.A1200G:p.K400K;ENSG00000154864:ENST00000582913:exon9:c.A1200G:p.K400K;ENSG00000154864:ENST00000503781:exon9:c.A1200G:p.K400K;ENSG00000154864:ENST00000302079:exon9:c.A1200G:p.K400K;	1.62657799757846E-4	0.01
18	10803873	T	G	18	10803875	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.A1200C:p.K400N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.A1200C:p.K400N;ENSG00000154864:ENST00000582913:exon9:c.A1200C:p.K400N;ENSG00000154864:ENST00000503781:exon9:c.A1200C:p.K400N;ENSG00000154864:ENST00000302079:exon9:c.A1200C:p.K400N;	1.83168607608361E-4	0.038
18	10803874	T	A	18	10803876	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.A1199T:p.K400I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.A1199T:p.K400I;ENSG00000154864:ENST00000582913:exon9:c.A1199T:p.K400I;ENSG00000154864:ENST00000503781:exon9:c.A1199T:p.K400I;ENSG00000154864:ENST00000302079:exon9:c.A1199T:p.K400I;	0.999129164119077	0.998
18	10803874	T	C	18	10803876	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.A1199G:p.K400R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.A1199G:p.K400R;ENSG00000154864:ENST00000582913:exon9:c.A1199G:p.K400R;ENSG00000154864:ENST00000503781:exon9:c.A1199G:p.K400R;ENSG00000154864:ENST00000302079:exon9:c.A1199G:p.K400R;	0.998702979902404	0.948
18	10803874	T	G	18	10803876	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.A1199C:p.K400T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.A1199C:p.K400T;ENSG00000154864:ENST00000582913:exon9:c.A1199C:p.K400T;ENSG00000154864:ENST00000503781:exon9:c.A1199C:p.K400T;ENSG00000154864:ENST00000302079:exon9:c.A1199C:p.K400T;	0.983397674106024	0.884
18	10803875	T	A	18	10803877	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon9:c.A1198T:p.K400X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon9:c.A1198T:p.K400X;ENSG00000154864:ENST00000582913:exon9:c.A1198T:p.K400X;ENSG00000154864:ENST00000503781:exon9:c.A1198T:p.K400X;ENSG00000154864:ENST00000302079:exon9:c.A1198T:p.K400X;	0.98952849113491	0.764
18	10803875	T	C	18	10803877	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.A1198G:p.K400E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.A1198G:p.K400E;ENSG00000154864:ENST00000582913:exon9:c.A1198G:p.K400E;ENSG00000154864:ENST00000503781:exon9:c.A1198G:p.K400E;ENSG00000154864:ENST00000302079:exon9:c.A1198G:p.K400E;	0.00626330939456476	0.076
18	10803875	T	G	18	10803877	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.A1198C:p.K400Q;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.A1198C:p.K400Q;ENSG00000154864:ENST00000582913:exon9:c.A1198C:p.K400Q;ENSG00000154864:ENST00000503781:exon9:c.A1198C:p.K400Q;ENSG00000154864:ENST00000302079:exon9:c.A1198C:p.K400Q;	0.00265706438314654	0.022
18	10803991	A	C	18	10803993	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.T1082G:p.V361G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.T1082G:p.V361G;ENSG00000154864:ENST00000582913:exon9:c.T1082G:p.V361G;ENSG00000154864:ENST00000503781:exon9:c.T1082G:p.V361G;ENSG00000154864:ENST00000302079:exon9:c.T1082G:p.V361G;	0.00158085484325885	0.042
18	10803991	A	G	18	10803993	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.T1082C:p.V361A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.T1082C:p.V361A;ENSG00000154864:ENST00000582913:exon9:c.T1082C:p.V361A;ENSG00000154864:ENST00000503781:exon9:c.T1082C:p.V361A;ENSG00000154864:ENST00000302079:exon9:c.T1082C:p.V361A;	0.00370931730848452	0.1
18	10803991	A	T	18	10803993	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.T1082A:p.V361E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.T1082A:p.V361E;ENSG00000154864:ENST00000582913:exon9:c.T1082A:p.V361E;ENSG00000154864:ENST00000503781:exon9:c.T1082A:p.V361E;ENSG00000154864:ENST00000302079:exon9:c.T1082A:p.V361E;	0.00262954683806919	0.08
18	10803992	C	A	18	10803994	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.G1081T:p.V361L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.G1081T:p.V361L;ENSG00000154864:ENST00000582913:exon9:c.G1081T:p.V361L;ENSG00000154864:ENST00000503781:exon9:c.G1081T:p.V361L;ENSG00000154864:ENST00000302079:exon9:c.G1081T:p.V361L;	0.516256796187209	0.58
18	10803992	C	G	18	10803994	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.G1081C:p.V361L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.G1081C:p.V361L;ENSG00000154864:ENST00000582913:exon9:c.G1081C:p.V361L;ENSG00000154864:ENST00000503781:exon9:c.G1081C:p.V361L;ENSG00000154864:ENST00000302079:exon9:c.G1081C:p.V361L;	0.111974564024931	0.476
18	10803992	C	T	18	10803994	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon9:c.G1081A:p.V361M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon9:c.G1081A:p.V361M;ENSG00000154864:ENST00000582913:exon9:c.G1081A:p.V361M;ENSG00000154864:ENST00000503781:exon9:c.G1081A:p.V361M;ENSG00000154864:ENST00000302079:exon9:c.G1081A:p.V361M;	0.0299713927789622	0.274
18	10803993	C	A	18	10803995	y	y	splicing	PIEZO2(NM_022068:exon10:c.1081-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1081-1G>T;ENST00000582913:exon10:c.1081-1G>T;ENST00000503781:exon10:c.1081-1G>T;ENST00000580640:exon10:c.1081-1G>T;ENST00000579112:exon4:c.248-1G>T)	.	.	0.999915710762489	0.954
18	10803993	C	G	18	10803995	y	y	splicing	PIEZO2(NM_022068:exon10:c.1081-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1081-1G>C;ENST00000582913:exon10:c.1081-1G>C;ENST00000503781:exon10:c.1081-1G>C;ENST00000580640:exon10:c.1081-1G>C;ENST00000579112:exon4:c.248-1G>C)	.	.	0.999915710762489	0.954
18	10803993	C	T	18	10803995	y	y	splicing	PIEZO2(NM_022068:exon10:c.1081-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1081-1G>A;ENST00000582913:exon10:c.1081-1G>A;ENST00000503781:exon10:c.1081-1G>A;ENST00000580640:exon10:c.1081-1G>A;ENST00000579112:exon4:c.248-1G>A)	.	.	0.999915710762489	0.944
18	10803994	T	A	18	10803996	y	y	splicing	PIEZO2(NM_022068:exon10:c.1081-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1081-2A>T;ENST00000582913:exon10:c.1081-2A>T;ENST00000503781:exon10:c.1081-2A>T;ENST00000580640:exon10:c.1081-2A>T;ENST00000579112:exon4:c.248-2A>T)	.	.	0.999955107838025	0.924
18	10803994	T	C	18	10803996	y	y	splicing	PIEZO2(NM_022068:exon10:c.1081-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1081-2A>G;ENST00000582913:exon10:c.1081-2A>G;ENST00000503781:exon10:c.1081-2A>G;ENST00000580640:exon10:c.1081-2A>G;ENST00000579112:exon4:c.248-2A>G)	.	.	0.999955107838025	0.928
18	10803994	T	G	18	10803996	y	y	splicing	PIEZO2(NM_022068:exon10:c.1081-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon10:c.1081-2A>C;ENST00000582913:exon10:c.1081-2A>C;ENST00000503781:exon10:c.1081-2A>C;ENST00000580640:exon10:c.1081-2A>C;ENST00000579112:exon4:c.248-2A>C)	.	.	0.999955107838025	0.928
18	10803995	G	A	18	10803997	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.8780491488275E-4	0.038
18	10803995	G	C	18	10803997	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.981272811099469	0.878
18	10803995	G	T	18	10803997	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.172938905677941	0.356
18	10803996	A	C	18	10803998	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.40968851269846E-4	0.034
18	10803996	A	G	18	10803998	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.90996244286015E-4	0.004
18	10803996	A	T	18	10803998	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0010851519381733	0.034
18	10803997	A	C	18	10803999	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.677464658299005	0.482
18	10803997	A	G	18	10803999	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00207378589917413	0.118
18	10803997	A	T	18	10803999	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.596360067952874	0.524
18	10803998	A	C	18	10804000	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.942199234441911	0.548
18	10803998	A	G	18	10804000	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00758689903820699	0.1
18	10803998	A	T	18	10804000	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.939738532983862	0.576
18	10803999	C	A	18	10804001	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.41680827537807E-5	0.002
18	10803999	C	G	18	10804001	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.39246339700435E-5	0.004
18	10803999	C	T	18	10804001	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.89007591318492E-5	0.014
18	10804000	A	C	18	10804002	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00502643452494552	0.216
18	10804000	A	G	18	10804002	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.84282643059308E-5	0.006
18	10804000	A	T	18	10804002	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999846915054951	0.994
18	10804001	C	A	18	10804003	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.74077348030052E-5	0.008
18	10804001	C	G	18	10804003	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.24755206892716E-4	0.004
18	10804001	C	T	18	10804003	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00130654833609821	0.094
18	10804002	A	C	18	10804004	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.3335722767539	0.606
18	10804002	A	G	18	10804004	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.33433070460639E-4	0.012
18	10804002	A	T	18	10804004	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999744819271673	0.946
18	10804003	G	A	18	10804005	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.0699690370406E-4	0.008
18	10804003	G	C	18	10804005	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.54281099895723E-4	0.056
18	10804003	G	T	18	10804005	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00493944536912415	0.178
18	10804004	A	C	18	10804006	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0868227370445416	0.326
18	10804004	A	G	18	10804006	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.55657566480562E-4	0.006
18	10804004	A	T	18	10804006	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.110603496386351	0.41
18	10807102	G	A	18	10807104	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.8955597481825E-4	0.134
18	10807102	G	C	18	10807104	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.3832437562349E-4	0.06
18	10807102	G	T	18	10807104	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.48294635635068E-4	0.132
18	10807103	T	A	18	10807105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.45685357549957E-4	0.012
18	10807103	T	C	18	10807105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.92095958393568E-4	0.016
18	10807103	T	G	18	10807105	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.65172939375303E-4	0.014
18	10807104	C	A	18	10807106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.90585645503058E-5	0.006
18	10807104	C	G	18	10807106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.75404922246508E-4	0.132
18	10807104	C	T	18	10807106	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.26435863129017E-4	0.094
18	10807105	C	A	18	10807107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999947019799611	0.984
18	10807105	C	G	18	10807107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999961991284022	0.968
18	10807105	C	T	18	10807107	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999962051367214	1.0
18	10807106	T	A	18	10807108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999851015397793	0.948
18	10807106	T	C	18	10807108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99989484551056	0.982
18	10807106	T	G	18	10807108	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998854583008982	0.926
18	10807107	T	A	18	10807109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999879752266603	0.964
18	10807107	T	C	18	10807109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.870922803387734	0.606
18	10807107	T	G	18	10807109	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999887809977463	0.958
18	10807108	A	C	18	10807110	y	y	splicing	PIEZO2(NM_022068:exon9:c.1080+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.1080+2T>G;ENST00000582913:exon9:c.1080+2T>G;ENST00000503781:exon9:c.1080+2T>G;ENST00000580640:exon9:c.1080+2T>G;ENST00000579112:exon3:c.247+2T>G)	.	.	0.999992076683048	0.94
18	10807108	A	G	18	10807110	y	y	splicing	PIEZO2(NM_022068:exon9:c.1080+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.1080+2T>C;ENST00000582913:exon9:c.1080+2T>C;ENST00000503781:exon9:c.1080+2T>C;ENST00000580640:exon9:c.1080+2T>C;ENST00000579112:exon3:c.247+2T>C)	.	.	0.999933976117948	0.914
18	10807108	A	T	18	10807110	y	y	splicing	PIEZO2(NM_022068:exon9:c.1080+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.1080+2T>A;ENST00000582913:exon9:c.1080+2T>A;ENST00000503781:exon9:c.1080+2T>A;ENST00000580640:exon9:c.1080+2T>A;ENST00000579112:exon3:c.247+2T>A)	.	.	0.999992076683048	0.94
18	10807109	C	A	18	10807111	y	y	splicing	PIEZO2(NM_022068:exon9:c.1080+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.1080+1G>T;ENST00000582913:exon9:c.1080+1G>T;ENST00000503781:exon9:c.1080+1G>T;ENST00000580640:exon9:c.1080+1G>T;ENST00000579112:exon3:c.247+1G>T)	.	.	0.999985666489905	0.946
18	10807109	C	G	18	10807111	y	y	splicing	PIEZO2(NM_022068:exon9:c.1080+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.1080+1G>C;ENST00000582913:exon9:c.1080+1G>C;ENST00000503781:exon9:c.1080+1G>C;ENST00000580640:exon9:c.1080+1G>C;ENST00000579112:exon3:c.247+1G>C)	.	.	0.999985666489905	0.946
18	10807109	C	T	18	10807111	y	y	splicing	PIEZO2(NM_022068:exon9:c.1080+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.1080+1G>A;ENST00000582913:exon9:c.1080+1G>A;ENST00000503781:exon9:c.1080+1G>A;ENST00000580640:exon9:c.1080+1G>A;ENST00000579112:exon3:c.247+1G>A)	.	.	0.999985666489905	0.946
18	10807110	A	C	18	10807112	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon8:c.T1080G:p.L360L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T1080G:p.L360L;ENSG00000154864:ENST00000582913:exon8:c.T1080G:p.L360L;ENSG00000154864:ENST00000503781:exon8:c.T1080G:p.L360L;ENSG00000154864:ENST00000302079:exon8:c.T1080G:p.L360L;	1.9834904458685E-4	0.012
18	10807110	A	G	18	10807112	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon8:c.T1080C:p.L360L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T1080C:p.L360L;ENSG00000154864:ENST00000582913:exon8:c.T1080C:p.L360L;ENSG00000154864:ENST00000503781:exon8:c.T1080C:p.L360L;ENSG00000154864:ENST00000302079:exon8:c.T1080C:p.L360L;	1.75135002695371E-4	0.2
18	10807110	A	T	18	10807112	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon8:c.T1080A:p.L360L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T1080A:p.L360L;ENSG00000154864:ENST00000582913:exon8:c.T1080A:p.L360L;ENSG00000154864:ENST00000503781:exon8:c.T1080A:p.L360L;ENSG00000154864:ENST00000302079:exon8:c.T1080A:p.L360L;	3.00895929904057E-5	0.01
18	10807111	A	C	18	10807113	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.T1079G:p.L360R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T1079G:p.L360R;ENSG00000154864:ENST00000582913:exon8:c.T1079G:p.L360R;ENSG00000154864:ENST00000503781:exon8:c.T1079G:p.L360R;ENSG00000154864:ENST00000302079:exon8:c.T1079G:p.L360R;	0.0247864836397588	0.316
18	10807111	A	G	18	10807113	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.T1079C:p.L360P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T1079C:p.L360P;ENSG00000154864:ENST00000582913:exon8:c.T1079C:p.L360P;ENSG00000154864:ENST00000503781:exon8:c.T1079C:p.L360P;ENSG00000154864:ENST00000302079:exon8:c.T1079C:p.L360P;	0.0246464230124813	0.184
18	10807111	A	T	18	10807113	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.T1079A:p.L360H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T1079A:p.L360H;ENSG00000154864:ENST00000582913:exon8:c.T1079A:p.L360H;ENSG00000154864:ENST00000503781:exon8:c.T1079A:p.L360H;ENSG00000154864:ENST00000302079:exon8:c.T1079A:p.L360H;	0.00110208648352809	0.122
18	10807112	G	A	18	10807114	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.C1078T:p.L360F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.C1078T:p.L360F;ENSG00000154864:ENST00000582913:exon8:c.C1078T:p.L360F;ENSG00000154864:ENST00000503781:exon8:c.C1078T:p.L360F;ENSG00000154864:ENST00000302079:exon8:c.C1078T:p.L360F;	0.232952305261942	0.536
18	10807112	G	C	18	10807114	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.C1078G:p.L360V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.C1078G:p.L360V;ENSG00000154864:ENST00000582913:exon8:c.C1078G:p.L360V;ENSG00000154864:ENST00000503781:exon8:c.C1078G:p.L360V;ENSG00000154864:ENST00000302079:exon8:c.C1078G:p.L360V;	0.00219389690620886	0.112
18	10807112	G	T	18	10807114	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.C1078A:p.L360I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.C1078A:p.L360I;ENSG00000154864:ENST00000582913:exon8:c.C1078A:p.L360I;ENSG00000154864:ENST00000503781:exon8:c.C1078A:p.L360I;ENSG00000154864:ENST00000302079:exon8:c.C1078A:p.L360I;	0.0110193859716442	0.172
18	10807271	A	C	18	10807273	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.T919G:p.L307V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T919G:p.L307V;ENSG00000154864:ENST00000582913:exon8:c.T919G:p.L307V;ENSG00000154864:ENST00000503781:exon8:c.T919G:p.L307V;ENSG00000154864:ENST00000302079:exon8:c.T919G:p.L307V;	0.00296017139496407	0.016
18	10807271	A	G	18	10807273	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon8:c.T919C:p.L307L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T919C:p.L307L;ENSG00000154864:ENST00000582913:exon8:c.T919C:p.L307L;ENSG00000154864:ENST00000503781:exon8:c.T919C:p.L307L;ENSG00000154864:ENST00000302079:exon8:c.T919C:p.L307L;	0.0127220126435337	0.088
18	10807271	A	T	18	10807273	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.T919A:p.L307M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.T919A:p.L307M;ENSG00000154864:ENST00000582913:exon8:c.T919A:p.L307M;ENSG00000154864:ENST00000503781:exon8:c.T919A:p.L307M;ENSG00000154864:ENST00000302079:exon8:c.T919A:p.L307M;	0.00298466917012515	0.016
18	10807272	C	A	18	10807274	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.G918T:p.R306S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.G918T:p.R306S;ENSG00000154864:ENST00000582913:exon8:c.G918T:p.R306S;ENSG00000154864:ENST00000503781:exon8:c.G918T:p.R306S;ENSG00000154864:ENST00000302079:exon8:c.G918T:p.R306S;	0.417097169091844	0.57
18	10807272	C	G	18	10807274	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon8:c.G918C:p.R306S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.G918C:p.R306S;ENSG00000154864:ENST00000582913:exon8:c.G918C:p.R306S;ENSG00000154864:ENST00000503781:exon8:c.G918C:p.R306S;ENSG00000154864:ENST00000302079:exon8:c.G918C:p.R306S;	0.53053233926317	0.56
18	10807272	C	T	18	10807274	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon8:c.G918A:p.R306R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon8:c.G918A:p.R306R;ENSG00000154864:ENST00000582913:exon8:c.G918A:p.R306R;ENSG00000154864:ENST00000503781:exon8:c.G918A:p.R306R;ENSG00000154864:ENST00000302079:exon8:c.G918A:p.R306R;	0.95939155623548	0.542
18	10807273	C	A	18	10807275	y	y	splicing	PIEZO2(NM_022068:exon9:c.918-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.918-1G>T;ENST00000582913:exon9:c.918-1G>T;ENST00000503781:exon9:c.918-1G>T;ENST00000580640:exon9:c.918-1G>T;ENST00000579112:exon3:c.85-1G>T)	.	.	0.999986675681007	0.94
18	10807273	C	G	18	10807275	y	y	splicing	PIEZO2(NM_022068:exon9:c.918-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.918-1G>C;ENST00000582913:exon9:c.918-1G>C;ENST00000503781:exon9:c.918-1G>C;ENST00000580640:exon9:c.918-1G>C;ENST00000579112:exon3:c.85-1G>C)	.	.	0.999986675681007	0.94
18	10807273	C	T	18	10807275	y	y	splicing	PIEZO2(NM_022068:exon9:c.918-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.918-1G>A;ENST00000582913:exon9:c.918-1G>A;ENST00000503781:exon9:c.918-1G>A;ENST00000580640:exon9:c.918-1G>A;ENST00000579112:exon3:c.85-1G>A)	.	.	0.999986675681007	0.94
18	10807274	T	A	18	10807276	y	y	splicing	PIEZO2(NM_022068:exon9:c.918-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.918-2A>T;ENST00000582913:exon9:c.918-2A>T;ENST00000503781:exon9:c.918-2A>T;ENST00000580640:exon9:c.918-2A>T;ENST00000579112:exon3:c.85-2A>T)	.	.	0.999989917668626	0.928
18	10807274	T	C	18	10807276	y	y	splicing	PIEZO2(NM_022068:exon9:c.918-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.918-2A>G;ENST00000582913:exon9:c.918-2A>G;ENST00000503781:exon9:c.918-2A>G;ENST00000580640:exon9:c.918-2A>G;ENST00000579112:exon3:c.85-2A>G)	.	.	0.999989917668626	0.928
18	10807274	T	G	18	10807276	y	y	splicing	PIEZO2(NM_022068:exon9:c.918-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon9:c.918-2A>C;ENST00000582913:exon9:c.918-2A>C;ENST00000503781:exon9:c.918-2A>C;ENST00000580640:exon9:c.918-2A>C;ENST00000579112:exon3:c.85-2A>C)	.	.	0.999989917668626	0.928
18	10807275	G	A	18	10807277	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0590903666428496	0.186
18	10807275	G	C	18	10807277	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999938185957271	0.814
18	10807275	G	T	18	10807277	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.420863750720123	0.512
18	10807276	T	A	18	10807278	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0158487593334924	0.13
18	10807276	T	C	18	10807278	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.954793683333143	0.492
18	10807276	T	G	18	10807278	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00816232196893173	0.084
18	10807277	T	A	18	10807279	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.67505739692122E-4	0.0
18	10807277	T	C	18	10807279	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.85261762383055E-4	0.042
18	10807277	T	G	18	10807279	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.60403048830096E-4	0.0
18	10807278	A	C	18	10807280	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00450969248632511	0.184
18	10807278	A	G	18	10807280	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.09000615250789E-5	0.002
18	10807278	A	T	18	10807280	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00301886114540226	0.146
18	10807279	A	C	18	10807281	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00284722902669642	0.162
18	10807279	A	G	18	10807281	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.23282653187387E-5	0.002
18	10807279	A	T	18	10807281	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0109975996056586	0.168
18	10807280	A	C	18	10807282	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.15271924240029E-4	0.022
18	10807280	A	G	18	10807282	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.98929016386108E-5	0.0
18	10807280	A	T	18	10807282	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00105174571864477	0.044
18	10807281	A	C	18	10807283	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0101868369293888	0.262
18	10807281	A	G	18	10807283	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.21937429531782E-4	0.024
18	10807281	A	T	18	10807283	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00278467434402757	0.256
18	10807282	A	C	18	10807284	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.90588613779862E-4	0.188
18	10807282	A	G	18	10807284	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.50265398742553E-5	0.018
18	10807282	A	T	18	10807284	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00327731819401726	0.184
18	10807283	A	C	18	10807285	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0226700527135561	0.274
18	10807283	A	G	18	10807285	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.89074331897105E-4	0.1
18	10807283	A	T	18	10807285	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0204434594530165	0.25
18	10807284	C	A	18	10807286	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.48097464014652E-5	0.0
18	10807284	C	G	18	10807286	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.1001362306622E-6	0.0
18	10807284	C	T	18	10807286	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.18331623123122E-5	0.006
18	10855343	T	A	18	10855345	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.15494709416875E-5	0.0
18	10855343	T	C	18	10855345	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.51906241469623E-5	0.0
18	10855343	T	G	18	10855345	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.30191419459164E-5	0.0
18	10855344	C	A	18	10855346	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.01029157003238E-4	0.0
18	10855344	C	G	18	10855346	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.01029157003238E-4	0.002
18	10855344	C	T	18	10855346	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.01029157003238E-4	0.002
18	10855345	T	A	18	10855347	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.56865791822641E-5	0.006
18	10855345	T	C	18	10855347	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.00480612636026E-5	0.0
18	10855345	T	G	18	10855347	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.62403565456842E-4	0.006
18	10855346	C	A	18	10855348	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.990292498578541	0.574
18	10855346	C	G	18	10855348	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.957980896639733	0.74
18	10855346	C	T	18	10855348	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99857166830844	0.802
18	10855347	T	A	18	10855349	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.331396176619595	0.398
18	10855347	T	C	18	10855349	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.844968058782854	0.522
18	10855347	T	G	18	10855349	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.277581266509697	0.374
18	10855348	T	A	18	10855350	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.984754742961099	0.734
18	10855348	T	C	18	10855350	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0301007442067887	0.266
18	10855348	T	G	18	10855350	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.987883823092468	0.758
18	10855349	A	C	18	10855351	y	y	splicing	PIEZO2(NM_022068:exon8:c.917+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.917+2T>G;ENST00000582913:exon8:c.917+2T>G;ENST00000503781:exon8:c.917+2T>G;ENST00000580640:exon8:c.917+2T>G;ENST00000579112:exon2:c.84+2T>G)	.	.	0.999986607513753	0.922
18	10855349	A	G	18	10855351	y	y	splicing	PIEZO2(NM_022068:exon8:c.917+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.917+2T>C;ENST00000582913:exon8:c.917+2T>C;ENST00000503781:exon8:c.917+2T>C;ENST00000580640:exon8:c.917+2T>C;ENST00000579112:exon2:c.84+2T>C)	.	.	0.989722594634724	0.572
18	10855349	A	T	18	10855351	y	y	splicing	PIEZO2(NM_022068:exon8:c.917+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.917+2T>A;ENST00000582913:exon8:c.917+2T>A;ENST00000503781:exon8:c.917+2T>A;ENST00000580640:exon8:c.917+2T>A;ENST00000579112:exon2:c.84+2T>A)	.	.	0.999986607513753	0.912
18	10855350	C	A	18	10855352	y	y	splicing	PIEZO2(NM_022068:exon8:c.917+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.917+1G>T;ENST00000582913:exon8:c.917+1G>T;ENST00000503781:exon8:c.917+1G>T;ENST00000580640:exon8:c.917+1G>T;ENST00000579112:exon2:c.84+1G>T)	.	.	0.999981760802075	0.938
18	10855350	C	G	18	10855352	y	y	splicing	PIEZO2(NM_022068:exon8:c.917+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.917+1G>C;ENST00000582913:exon8:c.917+1G>C;ENST00000503781:exon8:c.917+1G>C;ENST00000580640:exon8:c.917+1G>C;ENST00000579112:exon2:c.84+1G>C)	.	.	0.999981760802075	0.936
18	10855350	C	T	18	10855352	y	y	splicing	PIEZO2(NM_022068:exon8:c.917+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.917+1G>A;ENST00000582913:exon8:c.917+1G>A;ENST00000503781:exon8:c.917+1G>A;ENST00000580640:exon8:c.917+1G>A;ENST00000579112:exon2:c.84+1G>A)	.	.	0.999981760802075	0.938
18	10855351	C	A	18	10855353	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon7:c.G917T:p.R306M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.G917T:p.R306M;ENSG00000154864:ENST00000582913:exon7:c.G917T:p.R306M;ENSG00000154864:ENST00000503781:exon7:c.G917T:p.R306M;ENSG00000154864:ENST00000302079:exon7:c.G917T:p.R306M;	0.998038713914279	0.944
18	10855351	C	G	18	10855353	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon7:c.G917C:p.R306T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.G917C:p.R306T;ENSG00000154864:ENST00000582913:exon7:c.G917C:p.R306T;ENSG00000154864:ENST00000503781:exon7:c.G917C:p.R306T;ENSG00000154864:ENST00000302079:exon7:c.G917C:p.R306T;	0.99760013468218	0.898
18	10855351	C	T	18	10855353	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon7:c.G917A:p.R306K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.G917A:p.R306K;ENSG00000154864:ENST00000582913:exon7:c.G917A:p.R306K;ENSG00000154864:ENST00000503781:exon7:c.G917A:p.R306K;ENSG00000154864:ENST00000302079:exon7:c.G917A:p.R306K;	0.999589930315258	0.982
18	10855352	T	A	18	10855354	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon7:c.A916T:p.R306W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.A916T:p.R306W;ENSG00000154864:ENST00000582913:exon7:c.A916T:p.R306W;ENSG00000154864:ENST00000503781:exon7:c.A916T:p.R306W;ENSG00000154864:ENST00000302079:exon7:c.A916T:p.R306W;	0.923403172883229	0.59
18	10855352	T	C	18	10855354	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon7:c.A916G:p.R306G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.A916G:p.R306G;ENSG00000154864:ENST00000582913:exon7:c.A916G:p.R306G;ENSG00000154864:ENST00000503781:exon7:c.A916G:p.R306G;ENSG00000154864:ENST00000302079:exon7:c.A916G:p.R306G;	0.759554058505624	0.638
18	10855352	T	G	18	10855354	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon7:c.A916C:p.R306R;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.A916C:p.R306R;ENSG00000154864:ENST00000582913:exon7:c.A916C:p.R306R;ENSG00000154864:ENST00000503781:exon7:c.A916C:p.R306R;ENSG00000154864:ENST00000302079:exon7:c.A916C:p.R306R;	0.980476958234886	0.926
18	10855353	T	A	18	10855355	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon7:c.A915T:p.A305A;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.A915T:p.A305A;ENSG00000154864:ENST00000582913:exon7:c.A915T:p.A305A;ENSG00000154864:ENST00000503781:exon7:c.A915T:p.A305A;ENSG00000154864:ENST00000302079:exon7:c.A915T:p.A305A;	0.00210927724151986	0.196
18	10855353	T	C	18	10855355	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon7:c.A915G:p.A305A;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.A915G:p.A305A;ENSG00000154864:ENST00000582913:exon7:c.A915G:p.A305A;ENSG00000154864:ENST00000503781:exon7:c.A915G:p.A305A;ENSG00000154864:ENST00000302079:exon7:c.A915G:p.A305A;	1.07703039109361E-4	0.022
18	10855353	T	G	18	10855355	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon7:c.A915C:p.A305A;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.A915C:p.A305A;ENSG00000154864:ENST00000582913:exon7:c.A915C:p.A305A;ENSG00000154864:ENST00000503781:exon7:c.A915C:p.A305A;ENSG00000154864:ENST00000302079:exon7:c.A915C:p.A305A;	2.06507661203774E-5	0.024
18	10855563	G	A	18	10855565	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon7:c.C705T:p.G235G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.C705T:p.G235G;ENSG00000154864:ENST00000582913:exon7:c.C705T:p.G235G;ENSG00000154864:ENST00000503781:exon7:c.C705T:p.G235G;ENSG00000154864:ENST00000302079:exon7:c.C705T:p.G235G;	3.23736121056732E-5	0.006
18	10855563	G	C	18	10855565	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon7:c.C705G:p.G235G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.C705G:p.G235G;ENSG00000154864:ENST00000582913:exon7:c.C705G:p.G235G;ENSG00000154864:ENST00000503781:exon7:c.C705G:p.G235G;ENSG00000154864:ENST00000302079:exon7:c.C705G:p.G235G;	4.02952557607232E-5	0.006
18	10855563	G	T	18	10855565	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon7:c.C705A:p.G235G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.C705A:p.G235G;ENSG00000154864:ENST00000582913:exon7:c.C705A:p.G235G;ENSG00000154864:ENST00000503781:exon7:c.C705A:p.G235G;ENSG00000154864:ENST00000302079:exon7:c.C705A:p.G235G;	5.2369358866852E-5	0.004
18	10855564	C	A	18	10855566	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon7:c.G704T:p.G235V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.G704T:p.G235V;ENSG00000154864:ENST00000582913:exon7:c.G704T:p.G235V;ENSG00000154864:ENST00000503781:exon7:c.G704T:p.G235V;ENSG00000154864:ENST00000302079:exon7:c.G704T:p.G235V;	0.999157793847965	0.952
18	10855564	C	G	18	10855566	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon7:c.G704C:p.G235A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.G704C:p.G235A;ENSG00000154864:ENST00000582913:exon7:c.G704C:p.G235A;ENSG00000154864:ENST00000503781:exon7:c.G704C:p.G235A;ENSG00000154864:ENST00000302079:exon7:c.G704C:p.G235A;	0.998727803458333	0.892
18	10855564	C	T	18	10855566	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon7:c.G704A:p.G235D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon7:c.G704A:p.G235D;ENSG00000154864:ENST00000582913:exon7:c.G704A:p.G235D;ENSG00000154864:ENST00000503781:exon7:c.G704A:p.G235D;ENSG00000154864:ENST00000302079:exon7:c.G704A:p.G235D;	0.996976996813391	0.796
18	10855565	C	A	18	10855567	y	y	splicing	PIEZO2(NM_022068:exon8:c.704-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.704-1G>T;ENST00000582913:exon8:c.704-1G>T;ENST00000503781:exon8:c.704-1G>T;ENST00000580640:exon8:c.704-1G>T)	.	.	0.999989072007339	0.934
18	10855565	C	G	18	10855567	y	y	splicing	PIEZO2(NM_022068:exon8:c.704-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.704-1G>C;ENST00000582913:exon8:c.704-1G>C;ENST00000503781:exon8:c.704-1G>C;ENST00000580640:exon8:c.704-1G>C)	.	.	0.999989072007339	0.934
18	10855565	C	T	18	10855567	y	y	splicing	PIEZO2(NM_022068:exon8:c.704-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.704-1G>A;ENST00000582913:exon8:c.704-1G>A;ENST00000503781:exon8:c.704-1G>A;ENST00000580640:exon8:c.704-1G>A)	.	.	0.999989072007339	0.934
18	10855566	T	A	18	10855568	y	y	splicing	PIEZO2(NM_022068:exon8:c.704-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.704-2A>T;ENST00000582913:exon8:c.704-2A>T;ENST00000503781:exon8:c.704-2A>T;ENST00000580640:exon8:c.704-2A>T)	.	.	0.999988247793601	0.93
18	10855566	T	C	18	10855568	y	y	splicing	PIEZO2(NM_022068:exon8:c.704-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.704-2A>G;ENST00000582913:exon8:c.704-2A>G;ENST00000503781:exon8:c.704-2A>G;ENST00000580640:exon8:c.704-2A>G)	.	.	0.999988247793601	0.928
18	10855566	T	G	18	10855568	y	y	splicing	PIEZO2(NM_022068:exon8:c.704-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon8:c.704-2A>C;ENST00000582913:exon8:c.704-2A>C;ENST00000503781:exon8:c.704-2A>C;ENST00000580640:exon8:c.704-2A>C)	.	.	0.999988247793601	0.928
18	10855567	A	C	18	10855569	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.986998508676774	0.632
18	10855567	A	G	18	10855569	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.95113019607274E-5	0.004
18	10855567	A	T	18	10855569	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0147561001800377	0.254
18	10855568	A	C	18	10855570	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.08781119212431E-5	0.02
18	10855568	A	G	18	10855570	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.79656450313171E-5	0.006
18	10855568	A	T	18	10855570	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.66994601652507E-5	0.026
18	10855569	G	A	18	10855571	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.22828992358466E-5	0.004
18	10855569	G	C	18	10855571	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00610994291617516	0.186
18	10855569	G	T	18	10855571	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00136466744484296	0.114
18	10855570	G	A	18	10855572	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00726435662658216	0.176
18	10855570	G	C	18	10855572	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0805430408310768	0.268
18	10855570	G	T	18	10855572	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0380695620486524	0.296
18	10855571	A	C	18	10855573	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.14847225718996E-4	0.05
18	10855571	A	G	18	10855573	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.3089414142039E-5	0.01
18	10855571	A	T	18	10855573	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.11831125703555E-4	0.044
18	10855572	A	C	18	10855574	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.56463149648576E-5	0.106
18	10855572	A	G	18	10855574	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.43767908164469E-4	0.002
18	10855572	A	T	18	10855574	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.23706607311001E-4	0.062
18	10855573	G	A	18	10855575	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.52512506689461E-5	0.086
18	10855573	G	C	18	10855575	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.37496885697968E-4	0.092
18	10855573	G	T	18	10855575	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.37963133228819E-4	0.136
18	10855574	A	C	18	10855576	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.24205195409836E-4	0.088
18	10855574	A	G	18	10855576	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.31717524935568E-4	0.02
18	10855574	A	T	18	10855576	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00277371268854465	0.088
18	10855575	G	A	18	10855577	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00134952360457572	0.004
18	10855575	G	C	18	10855577	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00927655308821897	0.06
18	10855575	G	T	18	10855577	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0497385720039516	0.28
18	10855576	A	C	18	10855578	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.56641963417046E-4	0.144
18	10855576	A	G	18	10855578	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.47706263043357E-4	0.01
18	10855576	A	T	18	10855578	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.59462776336891E-4	0.162
18	10856991	A	C	18	10856993	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.00254316587307E-5	0.004
18	10856991	A	G	18	10856993	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.0617073089448E-5	0.0
18	10856991	A	T	18	10856993	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.0617073089448E-5	0.0
18	10856992	C	A	18	10856994	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.59028848257884E-5	0.0
18	10856992	C	G	18	10856994	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.37764044069023E-5	0.0
18	10856992	C	T	18	10856994	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.04881218989424E-5	0.0
18	10856993	A	C	18	10856995	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00129430798196856	0.038
18	10856993	A	G	18	10856995	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00597447828372636	0.082
18	10856993	A	T	18	10856995	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0204985573343736	0.068
18	10856994	C	A	18	10856996	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999794956875929	0.876
18	10856994	C	G	18	10856996	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999979786767788	0.9
18	10856994	C	T	18	10856996	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999805475953054	0.918
18	10856995	T	A	18	10856997	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.969284470693571	0.746
18	10856995	T	C	18	10856997	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.916460445434087	0.78
18	10856995	T	G	18	10856997	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.386084880434871	0.474
18	10856996	C	A	18	10856998	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.674966272402135	0.568
18	10856996	C	G	18	10856998	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.556753908502938	0.518
18	10856996	C	T	18	10856998	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.53428649810814E-5	0.004
18	10856997	A	C	18	10856999	y	y	splicing	PIEZO2(NM_022068:exon7:c.703+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.703+2T>G;ENST00000582913:exon7:c.703+2T>G;ENST00000503781:exon7:c.703+2T>G;ENST00000580640:exon7:c.703+2T>G)	.	.	0.99994568797423	0.926
18	10856997	A	G	18	10856999	y	y	splicing	PIEZO2(NM_022068:exon7:c.703+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.703+2T>C;ENST00000582913:exon7:c.703+2T>C;ENST00000503781:exon7:c.703+2T>C;ENST00000580640:exon7:c.703+2T>C)	.	.	0.999671772960211	0.862
18	10856997	A	T	18	10856999	y	y	splicing	PIEZO2(NM_022068:exon7:c.703+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.703+2T>A;ENST00000582913:exon7:c.703+2T>A;ENST00000503781:exon7:c.703+2T>A;ENST00000580640:exon7:c.703+2T>A)	.	.	0.999978952611685	0.928
18	10856998	C	A	18	10857000	y	y	splicing	PIEZO2(NM_022068:exon7:c.703+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.703+1G>T;ENST00000582913:exon7:c.703+1G>T;ENST00000503781:exon7:c.703+1G>T;ENST00000580640:exon7:c.703+1G>T)	.	.	0.999976137096505	0.936
18	10856998	C	G	18	10857000	y	y	splicing	PIEZO2(NM_022068:exon7:c.703+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.703+1G>C;ENST00000582913:exon7:c.703+1G>C;ENST00000503781:exon7:c.703+1G>C;ENST00000580640:exon7:c.703+1G>C)	.	.	0.999976137096505	0.936
18	10856998	C	T	18	10857000	y	y	splicing	PIEZO2(NM_022068:exon7:c.703+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.703+1G>A;ENST00000582913:exon7:c.703+1G>A;ENST00000503781:exon7:c.703+1G>A;ENST00000580640:exon7:c.703+1G>A)	.	.	0.999986675681007	0.934
18	10856999	C	A	18	10857001	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.G703T:p.G235C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G703T:p.G235C;ENSG00000154864:ENST00000582913:exon6:c.G703T:p.G235C;ENSG00000154864:ENST00000503781:exon6:c.G703T:p.G235C;ENSG00000154864:ENST00000302079:exon6:c.G703T:p.G235C;	0.97968601263244	0.824
18	10856999	C	G	18	10857001	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.G703C:p.G235R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G703C:p.G235R;ENSG00000154864:ENST00000582913:exon6:c.G703C:p.G235R;ENSG00000154864:ENST00000503781:exon6:c.G703C:p.G235R;ENSG00000154864:ENST00000302079:exon6:c.G703C:p.G235R;	0.999275401896531	0.878
18	10856999	C	T	18	10857001	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.G703A:p.G235S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G703A:p.G235S;ENSG00000154864:ENST00000582913:exon6:c.G703A:p.G235S;ENSG00000154864:ENST00000503781:exon6:c.G703A:p.G235S;ENSG00000154864:ENST00000302079:exon6:c.G703A:p.G235S;	0.99952150792053	0.978
18	10857000	C	A	18	10857002	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon6:c.G702T:p.S234S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G702T:p.S234S;ENSG00000154864:ENST00000582913:exon6:c.G702T:p.S234S;ENSG00000154864:ENST00000503781:exon6:c.G702T:p.S234S;ENSG00000154864:ENST00000302079:exon6:c.G702T:p.S234S;	4.21784627363375E-4	0.014
18	10857000	C	G	18	10857002	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon6:c.G702C:p.S234S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G702C:p.S234S;ENSG00000154864:ENST00000582913:exon6:c.G702C:p.S234S;ENSG00000154864:ENST00000503781:exon6:c.G702C:p.S234S;ENSG00000154864:ENST00000302079:exon6:c.G702C:p.S234S;	2.44120984110626E-5	0.0
18	10857000	C	T	18	10857002	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon6:c.G702A:p.S234S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G702A:p.S234S;ENSG00000154864:ENST00000582913:exon6:c.G702A:p.S234S;ENSG00000154864:ENST00000503781:exon6:c.G702A:p.S234S;ENSG00000154864:ENST00000302079:exon6:c.G702A:p.S234S;	2.0165807447989E-5	0.008
18	10857001	G	A	18	10857003	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.C701T:p.S234L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.C701T:p.S234L;ENSG00000154864:ENST00000582913:exon6:c.C701T:p.S234L;ENSG00000154864:ENST00000503781:exon6:c.C701T:p.S234L;ENSG00000154864:ENST00000302079:exon6:c.C701T:p.S234L;	0.991103435201461	0.618
18	10857001	G	C	18	10857003	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.C701G:p.S234W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.C701G:p.S234W;ENSG00000154864:ENST00000582913:exon6:c.C701G:p.S234W;ENSG00000154864:ENST00000503781:exon6:c.C701G:p.S234W;ENSG00000154864:ENST00000302079:exon6:c.C701G:p.S234W;	0.0545231087856397	0.292
18	10857001	G	T	18	10857003	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon6:c.C701A:p.S234X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon6:c.C701A:p.S234X;ENSG00000154864:ENST00000582913:exon6:c.C701A:p.S234X;ENSG00000154864:ENST00000503781:exon6:c.C701A:p.S234X;ENSG00000154864:ENST00000302079:exon6:c.C701A:p.S234X;	0.930157537206421	0.78
18	10857208	G	A	18	10857210	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.C494T:p.A165V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.C494T:p.A165V;ENSG00000154864:ENST00000582913:exon6:c.C494T:p.A165V;ENSG00000154864:ENST00000503781:exon6:c.C494T:p.A165V;ENSG00000154864:ENST00000302079:exon6:c.C494T:p.A165V;	0.00157974201434493	0.076
18	10857208	G	C	18	10857210	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.C494G:p.A165G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.C494G:p.A165G;ENSG00000154864:ENST00000582913:exon6:c.C494G:p.A165G;ENSG00000154864:ENST00000503781:exon6:c.C494G:p.A165G;ENSG00000154864:ENST00000302079:exon6:c.C494G:p.A165G;	0.00156224104976161	0.096
18	10857208	G	T	18	10857210	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.C494A:p.A165D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.C494A:p.A165D;ENSG00000154864:ENST00000582913:exon6:c.C494A:p.A165D;ENSG00000154864:ENST00000503781:exon6:c.C494A:p.A165D;ENSG00000154864:ENST00000302079:exon6:c.C494A:p.A165D;	0.00175047448658618	0.106
18	10857209	C	A	18	10857211	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.G493T:p.A165S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G493T:p.A165S;ENSG00000154864:ENST00000582913:exon6:c.G493T:p.A165S;ENSG00000154864:ENST00000503781:exon6:c.G493T:p.A165S;ENSG00000154864:ENST00000302079:exon6:c.G493T:p.A165S;	0.803672170779082	0.638
18	10857209	C	G	18	10857211	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.G493C:p.A165P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G493C:p.A165P;ENSG00000154864:ENST00000582913:exon6:c.G493C:p.A165P;ENSG00000154864:ENST00000503781:exon6:c.G493C:p.A165P;ENSG00000154864:ENST00000302079:exon6:c.G493C:p.A165P;	0.0731641108529098	0.426
18	10857209	C	T	18	10857211	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon6:c.G493A:p.A165T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon6:c.G493A:p.A165T;ENSG00000154864:ENST00000582913:exon6:c.G493A:p.A165T;ENSG00000154864:ENST00000503781:exon6:c.G493A:p.A165T;ENSG00000154864:ENST00000302079:exon6:c.G493A:p.A165T;	0.0114527488633379	0.124
18	10857210	C	A	18	10857212	y	y	splicing	PIEZO2(NM_022068:exon7:c.493-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.493-1G>T;ENST00000582913:exon7:c.493-1G>T;ENST00000503781:exon7:c.493-1G>T;ENST00000580640:exon7:c.493-1G>T)	.	.	0.999974090184857	0.936
18	10857210	C	G	18	10857212	y	y	splicing	PIEZO2(NM_022068:exon7:c.493-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.493-1G>C;ENST00000582913:exon7:c.493-1G>C;ENST00000503781:exon7:c.493-1G>C;ENST00000580640:exon7:c.493-1G>C)	.	.	0.999974090184857	0.938
18	10857210	C	T	18	10857212	y	y	splicing	PIEZO2(NM_022068:exon7:c.493-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.493-1G>A;ENST00000582913:exon7:c.493-1G>A;ENST00000503781:exon7:c.493-1G>A;ENST00000580640:exon7:c.493-1G>A)	.	.	0.999985532734767	0.938
18	10857211	T	A	18	10857213	y	y	splicing	PIEZO2(NM_022068:exon7:c.493-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.493-2A>T;ENST00000582913:exon7:c.493-2A>T;ENST00000503781:exon7:c.493-2A>T;ENST00000580640:exon7:c.493-2A>T)	.	.	0.999988247793601	0.926
18	10857211	T	C	18	10857213	y	y	splicing	PIEZO2(NM_022068:exon7:c.493-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.493-2A>G;ENST00000582913:exon7:c.493-2A>G;ENST00000503781:exon7:c.493-2A>G;ENST00000580640:exon7:c.493-2A>G)	.	.	0.999988247793601	0.914
18	10857211	T	G	18	10857213	y	y	splicing	PIEZO2(NM_022068:exon7:c.493-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon7:c.493-2A>C;ENST00000582913:exon7:c.493-2A>C;ENST00000503781:exon7:c.493-2A>C;ENST00000580640:exon7:c.493-2A>C)	.	.	0.999988247793601	0.914
18	10857212	A	C	18	10857214	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997272983780831	0.75
18	10857212	A	G	18	10857214	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.41486834397917E-4	0.008
18	10857212	A	T	18	10857214	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0205120274220444	0.368
18	10857213	A	C	18	10857215	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.78111327122362E-4	0.066
18	10857213	A	G	18	10857215	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.99328901353058E-4	0.022
18	10857213	A	T	18	10857215	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.99753376118468E-4	0.018
18	10857214	A	C	18	10857216	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999921257651514	0.966
18	10857214	A	G	18	10857216	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0325940986674973	0.24
18	10857214	A	T	18	10857216	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.401381740541552	0.678
18	10857215	T	A	18	10857217	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.95076949036759E-5	0.004
18	10857215	T	C	18	10857217	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.32609240094859E-5	0.0
18	10857215	T	G	18	10857217	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.95076949036759E-5	0.004
18	10857216	A	C	18	10857218	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00344374991724775	0.146
18	10857216	A	G	18	10857218	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.72294394816805E-4	0.0
18	10857216	A	T	18	10857218	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0104601860425524	0.112
18	10857217	A	C	18	10857219	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0271407326269805	0.292
18	10857217	A	G	18	10857219	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00101322153523447	0.01
18	10857217	A	T	18	10857219	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.258141936316011	0.282
18	10857218	A	C	18	10857220	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99996387936802	0.952
18	10857218	A	G	18	10857220	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.09379208740081E-4	0.014
18	10857218	A	T	18	10857220	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.772808126429154	0.73
18	10857219	T	A	18	10857221	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.94357087175613E-5	0.0
18	10857219	T	C	18	10857221	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.67660459341891E-5	0.004
18	10857219	T	G	18	10857221	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.94357087175613E-5	0.006
18	10857220	G	A	18	10857222	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.08968436393553E-5	0.022
18	10857220	G	C	18	10857222	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.65352950264293E-5	0.034
18	10857220	G	T	18	10857222	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.07091208284125E-4	0.056
18	10857221	A	C	18	10857223	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00734945198791949	0.322
18	10857221	A	G	18	10857223	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.10360098102951E-5	0.03
18	10857221	A	T	18	10857223	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.131935454442579	0.418
18	10871243	G	A	18	10871245	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.7638411028489E-4	0.0
18	10871243	G	C	18	10871245	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.46743844129455E-4	0.004
18	10871243	G	T	18	10871245	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.66985215320653E-4	0.0
18	10871244	G	A	18	10871246	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.02994657839161E-4	0.016
18	10871244	G	C	18	10871246	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.74574171642944E-5	0.002
18	10871244	G	T	18	10871246	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.81018230072068E-5	0.01
18	10871245	A	C	18	10871247	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.1755492225445	0.444
18	10871245	A	G	18	10871247	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.964287338553709	0.714
18	10871245	A	T	18	10871247	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.954157036438072	0.536
18	10871246	T	A	18	10871248	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.36584108007161E-5	0.004
18	10871246	T	C	18	10871248	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.9890209710985E-5	0.132
18	10871246	T	G	18	10871248	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.61844529839647E-4	0.014
18	10871247	T	A	18	10871249	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99363574342427	0.916
18	10871247	T	C	18	10871249	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999270873700761	0.952
18	10871247	T	G	18	10871249	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99661917122304	0.84
18	10871248	T	A	18	10871250	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.99993360980833	0.924
18	10871248	T	C	18	10871250	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999017822704773	0.92
18	10871248	T	G	18	10871250	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999887156960873	0.952
18	10871249	A	C	18	10871251	y	y	splicing	PIEZO2(NM_022068:exon6:c.492+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.492+2T>G;ENST00000582913:exon6:c.492+2T>G;ENST00000503781:exon6:c.492+2T>G;ENST00000580640:exon6:c.492+2T>G)	.	.	0.999988247793601	0.928
18	10871249	A	G	18	10871251	y	y	splicing	PIEZO2(NM_022068:exon6:c.492+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.492+2T>C;ENST00000582913:exon6:c.492+2T>C;ENST00000503781:exon6:c.492+2T>C;ENST00000580640:exon6:c.492+2T>C)	.	.	0.998073660937629	0.77
18	10871249	A	T	18	10871251	y	y	splicing	PIEZO2(NM_022068:exon6:c.492+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.492+2T>A;ENST00000582913:exon6:c.492+2T>A;ENST00000503781:exon6:c.492+2T>A;ENST00000580640:exon6:c.492+2T>A)	.	.	0.999988247793601	0.928
18	10871250	C	A	18	10871252	y	y	splicing	PIEZO2(NM_022068:exon6:c.492+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.492+1G>T;ENST00000582913:exon6:c.492+1G>T;ENST00000503781:exon6:c.492+1G>T;ENST00000580640:exon6:c.492+1G>T)	.	.	0.999985532734767	0.936
18	10871250	C	G	18	10871252	y	y	splicing	PIEZO2(NM_022068:exon6:c.492+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.492+1G>C;ENST00000582913:exon6:c.492+1G>C;ENST00000503781:exon6:c.492+1G>C;ENST00000580640:exon6:c.492+1G>C)	.	.	0.999985532734767	0.936
18	10871250	C	T	18	10871252	y	y	splicing	PIEZO2(NM_022068:exon6:c.492+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.492+1G>A;ENST00000582913:exon6:c.492+1G>A;ENST00000503781:exon6:c.492+1G>A;ENST00000580640:exon6:c.492+1G>A)	.	.	0.999985532734767	0.936
18	10871251	C	A	18	10871253	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.G492T:p.L164F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.G492T:p.L164F;ENSG00000154864:ENST00000582913:exon5:c.G492T:p.L164F;ENSG00000154864:ENST00000503781:exon5:c.G492T:p.L164F;ENSG00000154864:ENST00000302079:exon5:c.G492T:p.L164F;	0.999953888474543	0.99
18	10871251	C	G	18	10871253	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.G492C:p.L164F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.G492C:p.L164F;ENSG00000154864:ENST00000582913:exon5:c.G492C:p.L164F;ENSG00000154864:ENST00000503781:exon5:c.G492C:p.L164F;ENSG00000154864:ENST00000302079:exon5:c.G492C:p.L164F;	0.999993214663791	1.0
18	10871251	C	T	18	10871253	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon5:c.G492A:p.L164L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.G492A:p.L164L;ENSG00000154864:ENST00000582913:exon5:c.G492A:p.L164L;ENSG00000154864:ENST00000503781:exon5:c.G492A:p.L164L;ENSG00000154864:ENST00000302079:exon5:c.G492A:p.L164L;	0.99997895994127	1.0
18	10871252	A	C	18	10871254	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.T491G:p.L164W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.T491G:p.L164W;ENSG00000154864:ENST00000582913:exon5:c.T491G:p.L164W;ENSG00000154864:ENST00000503781:exon5:c.T491G:p.L164W;ENSG00000154864:ENST00000302079:exon5:c.T491G:p.L164W;	0.00574559858956667	0.108
18	10871252	A	G	18	10871254	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.T491C:p.L164S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.T491C:p.L164S;ENSG00000154864:ENST00000582913:exon5:c.T491C:p.L164S;ENSG00000154864:ENST00000503781:exon5:c.T491C:p.L164S;ENSG00000154864:ENST00000302079:exon5:c.T491C:p.L164S;	0.00203037826680285	0.134
18	10871252	A	T	18	10871254	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon5:c.T491A:p.L164X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon5:c.T491A:p.L164X;ENSG00000154864:ENST00000582913:exon5:c.T491A:p.L164X;ENSG00000154864:ENST00000503781:exon5:c.T491A:p.L164X;ENSG00000154864:ENST00000302079:exon5:c.T491A:p.L164X;	0.00166785448883265	0.478
18	10871253	A	C	18	10871255	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.T490G:p.L164V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.T490G:p.L164V;ENSG00000154864:ENST00000582913:exon5:c.T490G:p.L164V;ENSG00000154864:ENST00000503781:exon5:c.T490G:p.L164V;ENSG00000154864:ENST00000302079:exon5:c.T490G:p.L164V;	3.31663452996376E-5	0.012
18	10871253	A	G	18	10871255	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon5:c.T490C:p.L164L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.T490C:p.L164L;ENSG00000154864:ENST00000582913:exon5:c.T490C:p.L164L;ENSG00000154864:ENST00000503781:exon5:c.T490C:p.L164L;ENSG00000154864:ENST00000302079:exon5:c.T490C:p.L164L;	9.39855325088737E-5	0.018
18	10871253	A	T	18	10871255	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.T490A:p.L164M;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.T490A:p.L164M;ENSG00000154864:ENST00000582913:exon5:c.T490A:p.L164M;ENSG00000154864:ENST00000503781:exon5:c.T490A:p.L164M;ENSG00000154864:ENST00000302079:exon5:c.T490A:p.L164M;	5.42242346117008E-5	0.006
18	10871412	A	C	18	10871414	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.T331G:p.L111V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.T331G:p.L111V;ENSG00000154864:ENST00000582913:exon5:c.T331G:p.L111V;ENSG00000154864:ENST00000503781:exon5:c.T331G:p.L111V;ENSG00000154864:ENST00000302079:exon5:c.T331G:p.L111V;	1.50432166593891E-4	0.0
18	10871412	A	G	18	10871414	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon5:c.T331C:p.L111L;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.T331C:p.L111L;ENSG00000154864:ENST00000582913:exon5:c.T331C:p.L111L;ENSG00000154864:ENST00000503781:exon5:c.T331C:p.L111L;ENSG00000154864:ENST00000302079:exon5:c.T331C:p.L111L;	5.57835833231474E-4	0.014
18	10871412	A	T	18	10871414	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.T331A:p.L111I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.T331A:p.L111I;ENSG00000154864:ENST00000582913:exon5:c.T331A:p.L111I;ENSG00000154864:ENST00000503781:exon5:c.T331A:p.L111I;ENSG00000154864:ENST00000302079:exon5:c.T331A:p.L111I;	4.84532012719133E-4	0.006
18	10871413	G	A	18	10871415	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon5:c.C330T:p.S110S;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.C330T:p.S110S;ENSG00000154864:ENST00000582913:exon5:c.C330T:p.S110S;ENSG00000154864:ENST00000503781:exon5:c.C330T:p.S110S;ENSG00000154864:ENST00000302079:exon5:c.C330T:p.S110S;	2.69228149735993E-4	0.096
18	10871413	G	C	18	10871415	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.C330G:p.S110R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.C330G:p.S110R;ENSG00000154864:ENST00000582913:exon5:c.C330G:p.S110R;ENSG00000154864:ENST00000503781:exon5:c.C330G:p.S110R;ENSG00000154864:ENST00000302079:exon5:c.C330G:p.S110R;	1.50742111610917E-4	0.062
18	10871413	G	T	18	10871415	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon5:c.C330A:p.S110R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon5:c.C330A:p.S110R;ENSG00000154864:ENST00000582913:exon5:c.C330A:p.S110R;ENSG00000154864:ENST00000503781:exon5:c.C330A:p.S110R;ENSG00000154864:ENST00000302079:exon5:c.C330A:p.S110R;	5.51681952733507E-5	0.0
18	10871414	C	A	18	10871416	y	y	splicing	PIEZO2(NM_022068:exon6:c.330-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.330-1G>T;ENST00000582913:exon6:c.330-1G>T;ENST00000503781:exon6:c.330-1G>T;ENST00000580640:exon6:c.330-1G>T)	.	.	0.999915710762489	0.954
18	10871414	C	G	18	10871416	y	y	splicing	PIEZO2(NM_022068:exon6:c.330-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.330-1G>C;ENST00000582913:exon6:c.330-1G>C;ENST00000503781:exon6:c.330-1G>C;ENST00000580640:exon6:c.330-1G>C)	.	.	0.999916487880886	0.942
18	10871414	C	T	18	10871416	y	y	splicing	PIEZO2(NM_022068:exon6:c.330-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.330-1G>A;ENST00000582913:exon6:c.330-1G>A;ENST00000503781:exon6:c.330-1G>A;ENST00000580640:exon6:c.330-1G>A)	.	.	0.999915710762489	0.954
18	10871415	T	A	18	10871417	y	y	splicing	PIEZO2(NM_022068:exon6:c.330-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.330-2A>T;ENST00000582913:exon6:c.330-2A>T;ENST00000503781:exon6:c.330-2A>T;ENST00000580640:exon6:c.330-2A>T)	.	.	0.999978156327223	0.932
18	10871415	T	C	18	10871417	y	y	splicing	PIEZO2(NM_022068:exon6:c.330-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.330-2A>G;ENST00000582913:exon6:c.330-2A>G;ENST00000503781:exon6:c.330-2A>G;ENST00000580640:exon6:c.330-2A>G)	.	.	0.999978156327223	0.93
18	10871415	T	G	18	10871417	y	y	splicing	PIEZO2(NM_022068:exon6:c.330-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon6:c.330-2A>C;ENST00000582913:exon6:c.330-2A>C;ENST00000503781:exon6:c.330-2A>C;ENST00000580640:exon6:c.330-2A>C)	.	.	0.999978156327223	0.93
18	10871416	A	C	18	10871418	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.511835457265704	0.45
18	10871416	A	G	18	10871418	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.67041973136455E-5	0.0
18	10871416	A	T	18	10871418	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.06741334578035E-4	0.004
18	10871417	T	A	18	10871419	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.90239880837475E-5	0.046
18	10871417	T	C	18	10871419	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.98424884803464E-5	0.056
18	10871417	T	G	18	10871419	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.14317026959531E-5	0.046
18	10871418	A	C	18	10871420	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.5446307771172E-4	0.082
18	10871418	A	G	18	10871420	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.10127310072667E-5	0.0
18	10871418	A	T	18	10871420	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.31036282822228E-4	0.042
18	10871419	A	C	18	10871421	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.54914561943861E-4	0.06
18	10871419	A	G	18	10871421	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.4937736365241E-5	0.0
18	10871419	A	T	18	10871421	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.54914561943861E-4	0.05
18	10871420	A	C	18	10871422	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.39468285972722E-5	0.022
18	10871420	A	G	18	10871422	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.78451310675572E-5	0.002
18	10871420	A	T	18	10871422	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.88561288506698E-4	0.028
18	10871421	G	A	18	10871423	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.04123595584524E-5	0.0
18	10871421	G	C	18	10871423	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.15163576203559E-4	0.008
18	10871421	G	T	18	10871423	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.15163576203559E-4	0.018
18	10871422	G	A	18	10871424	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.62980331195032E-5	0.01
18	10871422	G	C	18	10871424	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03331061102995E-4	0.014
18	10871422	G	T	18	10871424	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.95195841178017E-4	0.108
18	10871423	A	C	18	10871425	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.35220461063185E-5	0.116
18	10871423	A	G	18	10871425	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.48440336916231E-5	0.002
18	10871423	A	T	18	10871425	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.71120432090298E-5	0.078
18	10871424	A	C	18	10871426	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.70539645064256E-5	0.11
18	10871424	A	G	18	10871426	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.81227273857961E-5	0.012
18	10871424	A	T	18	10871426	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.775861392463E-4	0.144
18	10871425	A	C	18	10871427	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.94686745345255E-4	0.172
18	10871425	A	G	18	10871427	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.88488827554317E-4	0.006
18	10871425	A	T	18	10871427	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.80619322591065E-4	0.16
18	10911176	T	A	18	10911178	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.77993525610891E-5	0.0
18	10911176	T	C	18	10911178	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.77993525610891E-5	0.0
18	10911176	T	G	18	10911178	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.94361328042304E-5	0.004
18	10911177	T	A	18	10911179	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.46438451434635E-5	0.008
18	10911177	T	C	18	10911179	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.67738868662274E-5	0.008
18	10911177	T	G	18	10911179	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.25437117408849E-5	0.008
18	10911178	G	A	18	10911180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.1205467725256E-5	0.046
18	10911178	G	C	18	10911180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.03600334606616E-4	0.1
18	10911178	G	T	18	10911180	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.0355509332563E-4	0.07
18	10911179	C	A	18	10911181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.962615991221895	0.454
18	10911179	C	G	18	10911181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.762276204072641	0.522
18	10911179	C	T	18	10911181	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.848531193966663	0.506
18	10911180	T	A	18	10911182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.251590480152754	0.522
18	10911180	T	C	18	10911182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.115742370649036	0.468
18	10911180	T	G	18	10911182	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0973198207376719	0.454
18	10911181	T	A	18	10911183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.968263859053669	0.614
18	10911181	T	C	18	10911183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0021552787965974	0.082
18	10911181	T	G	18	10911183	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.839358126395918	0.586
18	10911182	A	C	18	10911184	y	y	splicing	PIEZO2(NM_022068:exon5:c.329+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.329+2T>G;ENST00000582913:exon5:c.329+2T>G;ENST00000503781:exon5:c.329+2T>G;ENST00000580640:exon5:c.329+2T>G)	.	.	0.999988247793601	0.928
18	10911182	A	G	18	10911184	y	y	splicing	PIEZO2(NM_022068:exon5:c.329+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.329+2T>C;ENST00000582913:exon5:c.329+2T>C;ENST00000503781:exon5:c.329+2T>C;ENST00000580640:exon5:c.329+2T>C)	.	.	0.98918007292081	0.65
18	10911182	A	T	18	10911184	y	y	splicing	PIEZO2(NM_022068:exon5:c.329+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.329+2T>A;ENST00000582913:exon5:c.329+2T>A;ENST00000503781:exon5:c.329+2T>A;ENST00000580640:exon5:c.329+2T>A)	.	.	0.999988247793601	0.928
18	10911183	C	A	18	10911185	y	y	splicing	PIEZO2(NM_022068:exon5:c.329+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.329+1G>T;ENST00000582913:exon5:c.329+1G>T;ENST00000503781:exon5:c.329+1G>T;ENST00000580640:exon5:c.329+1G>T)	.	.	0.999985532734767	0.936
18	10911183	C	G	18	10911185	y	y	splicing	PIEZO2(NM_022068:exon5:c.329+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.329+1G>C;ENST00000582913:exon5:c.329+1G>C;ENST00000503781:exon5:c.329+1G>C;ENST00000580640:exon5:c.329+1G>C)	.	.	0.999985532734767	0.928
18	10911183	C	T	18	10911185	y	y	splicing	PIEZO2(NM_022068:exon5:c.329+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.329+1G>A;ENST00000582913:exon5:c.329+1G>A;ENST00000503781:exon5:c.329+1G>A;ENST00000580640:exon5:c.329+1G>A)	.	.	0.999985532734767	0.936
18	10911184	C	A	18	10911186	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.G329T:p.S110I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.G329T:p.S110I;ENSG00000154864:ENST00000582913:exon4:c.G329T:p.S110I;ENSG00000154864:ENST00000503781:exon4:c.G329T:p.S110I;ENSG00000154864:ENST00000302079:exon4:c.G329T:p.S110I;	0.999683715145216	0.926
18	10911184	C	G	18	10911186	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.G329C:p.S110T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.G329C:p.S110T;ENSG00000154864:ENST00000582913:exon4:c.G329C:p.S110T;ENSG00000154864:ENST00000503781:exon4:c.G329C:p.S110T;ENSG00000154864:ENST00000302079:exon4:c.G329C:p.S110T;	0.998700996316718	0.788
18	10911184	C	T	18	10911186	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.G329A:p.S110N;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.G329A:p.S110N;ENSG00000154864:ENST00000582913:exon4:c.G329A:p.S110N;ENSG00000154864:ENST00000503781:exon4:c.G329A:p.S110N;ENSG00000154864:ENST00000302079:exon4:c.G329A:p.S110N;	0.979029545295602	0.7
18	10911185	T	A	18	10911187	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.A328T:p.S110C;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.A328T:p.S110C;ENSG00000154864:ENST00000582913:exon4:c.A328T:p.S110C;ENSG00000154864:ENST00000503781:exon4:c.A328T:p.S110C;ENSG00000154864:ENST00000302079:exon4:c.A328T:p.S110C;	0.727039582010187	0.462
18	10911185	T	C	18	10911187	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.A328G:p.S110G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.A328G:p.S110G;ENSG00000154864:ENST00000582913:exon4:c.A328G:p.S110G;ENSG00000154864:ENST00000503781:exon4:c.A328G:p.S110G;ENSG00000154864:ENST00000302079:exon4:c.A328G:p.S110G;	0.738724326202962	0.464
18	10911185	T	G	18	10911187	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.A328C:p.S110R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.A328C:p.S110R;ENSG00000154864:ENST00000582913:exon4:c.A328C:p.S110R;ENSG00000154864:ENST00000503781:exon4:c.A328C:p.S110R;ENSG00000154864:ENST00000302079:exon4:c.A328C:p.S110R;	0.473691860132657	0.546
18	10911186	T	A	18	10911188	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.A327T:p.E109D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.A327T:p.E109D;ENSG00000154864:ENST00000582913:exon4:c.A327T:p.E109D;ENSG00000154864:ENST00000503781:exon4:c.A327T:p.E109D;ENSG00000154864:ENST00000302079:exon4:c.A327T:p.E109D;	0.269873893033668	0.334
18	10911186	T	C	18	10911188	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon4:c.A327G:p.E109E;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.A327G:p.E109E;ENSG00000154864:ENST00000582913:exon4:c.A327G:p.E109E;ENSG00000154864:ENST00000503781:exon4:c.A327G:p.E109E;ENSG00000154864:ENST00000302079:exon4:c.A327G:p.E109E;	0.0108640901605854	0.104
18	10911186	T	G	18	10911188	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.A327C:p.E109D;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.A327C:p.E109D;ENSG00000154864:ENST00000582913:exon4:c.A327C:p.E109D;ENSG00000154864:ENST00000503781:exon4:c.A327C:p.E109D;ENSG00000154864:ENST00000302079:exon4:c.A327C:p.E109D;	0.00375599256239146	0.016
18	10911225	G	A	18	10911227	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon4:c.C288T:p.C96C;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.C288T:p.C96C;ENSG00000154864:ENST00000582913:exon4:c.C288T:p.C96C;ENSG00000154864:ENST00000503781:exon4:c.C288T:p.C96C;ENSG00000154864:ENST00000302079:exon4:c.C288T:p.C96C;	5.14202494437815E-5	0.004
18	10911225	G	C	18	10911227	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.C288G:p.C96W;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.C288G:p.C96W;ENSG00000154864:ENST00000582913:exon4:c.C288G:p.C96W;ENSG00000154864:ENST00000503781:exon4:c.C288G:p.C96W;ENSG00000154864:ENST00000302079:exon4:c.C288G:p.C96W;	3.05464901436451E-5	0.01
18	10911225	G	T	18	10911227	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon4:c.C288A:p.C96X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon4:c.C288A:p.C96X;ENSG00000154864:ENST00000582913:exon4:c.C288A:p.C96X;ENSG00000154864:ENST00000503781:exon4:c.C288A:p.C96X;ENSG00000154864:ENST00000302079:exon4:c.C288A:p.C96X;	1.08066150296845E-4	0.018
18	10911226	C	A	18	10911228	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.G287T:p.C96F;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.G287T:p.C96F;ENSG00000154864:ENST00000582913:exon4:c.G287T:p.C96F;ENSG00000154864:ENST00000503781:exon4:c.G287T:p.C96F;ENSG00000154864:ENST00000302079:exon4:c.G287T:p.C96F;	0.905772797451464	0.504
18	10911226	C	G	18	10911228	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.G287C:p.C96S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.G287C:p.C96S;ENSG00000154864:ENST00000582913:exon4:c.G287C:p.C96S;ENSG00000154864:ENST00000503781:exon4:c.G287C:p.C96S;ENSG00000154864:ENST00000302079:exon4:c.G287C:p.C96S;	0.617712055394913	0.53
18	10911226	C	T	18	10911228	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon4:c.G287A:p.C96Y;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon4:c.G287A:p.C96Y;ENSG00000154864:ENST00000582913:exon4:c.G287A:p.C96Y;ENSG00000154864:ENST00000503781:exon4:c.G287A:p.C96Y;ENSG00000154864:ENST00000302079:exon4:c.G287A:p.C96Y;	0.0559589628031926	0.458
18	10911227	C	A	18	10911229	y	y	splicing	PIEZO2(NM_022068:exon5:c.287-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.287-1G>T;ENST00000582913:exon5:c.287-1G>T;ENST00000503781:exon5:c.287-1G>T;ENST00000580640:exon5:c.287-1G>T)	.	.	0.99996469115006	0.908
18	10911227	C	G	18	10911229	y	y	splicing	PIEZO2(NM_022068:exon5:c.287-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.287-1G>C;ENST00000582913:exon5:c.287-1G>C;ENST00000503781:exon5:c.287-1G>C;ENST00000580640:exon5:c.287-1G>C)	.	.	0.999966603939759	0.896
18	10911227	C	T	18	10911229	y	y	splicing	PIEZO2(NM_022068:exon5:c.287-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.287-1G>A;ENST00000582913:exon5:c.287-1G>A;ENST00000503781:exon5:c.287-1G>A;ENST00000580640:exon5:c.287-1G>A)	.	.	0.99996469115006	0.908
18	10911228	T	A	18	10911230	y	y	splicing	PIEZO2(NM_022068:exon5:c.287-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.287-2A>T;ENST00000582913:exon5:c.287-2A>T;ENST00000503781:exon5:c.287-2A>T;ENST00000580640:exon5:c.287-2A>T)	.	.	0.999971317418422	0.886
18	10911228	T	C	18	10911230	y	y	splicing	PIEZO2(NM_022068:exon5:c.287-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.287-2A>G;ENST00000582913:exon5:c.287-2A>G;ENST00000503781:exon5:c.287-2A>G;ENST00000580640:exon5:c.287-2A>G)	.	.	0.999972155025474	0.868
18	10911228	T	G	18	10911230	y	y	splicing	PIEZO2(NM_022068:exon5:c.287-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon5:c.287-2A>C;ENST00000582913:exon5:c.287-2A>C;ENST00000503781:exon5:c.287-2A>C;ENST00000580640:exon5:c.287-2A>C)	.	.	0.999972155025474	0.868
18	10911229	G	A	18	10911231	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.61047924556555E-4	0.034
18	10911229	G	C	18	10911231	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.983177217776405	0.784
18	10911229	G	T	18	10911231	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.119438784228202	0.434
18	10911230	T	A	18	10911232	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.31071064750163E-5	0.0
18	10911230	T	C	18	10911232	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.27037610457443E-5	0.0
18	10911230	T	G	18	10911232	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.04729302029936E-5	0.002
18	10911231	A	C	18	10911233	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.166691787863522	0.44
18	10911231	A	G	18	10911233	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0113584876315601	0.094
18	10911231	A	T	18	10911233	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.332582664072066	0.492
18	10911232	A	C	18	10911234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.995429876571363	0.976
18	10911232	A	G	18	10911234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.70731559864777E-5	0.0
18	10911232	A	T	18	10911234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.31760530366758E-4	0.072
18	10911233	T	A	18	10911235	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.48029644548951E-5	0.0
18	10911233	T	C	18	10911235	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.73608177447732E-6	0.0
18	10911233	T	G	18	10911235	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.40570893260446E-5	0.004
18	10911234	G	A	18	10911236	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.37262364608263E-5	0.002
18	10911234	G	C	18	10911236	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.31348927212745E-4	0.066
18	10911234	G	T	18	10911236	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.08453262993542E-4	0.014
18	10911235	G	A	18	10911237	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.76743742042561E-5	0.024
18	10911235	G	C	18	10911237	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.35790536583617E-4	0.046
18	10911235	G	T	18	10911237	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.60792514286953E-4	0.074
18	10911236	A	C	18	10911238	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.69292929890806E-4	0.064
18	10911236	A	G	18	10911238	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.80681098020526E-5	0.002
18	10911236	A	T	18	10911238	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.62838504082616E-4	0.042
18	10911237	A	C	18	10911239	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0550737702267201	0.398
18	10911237	A	G	18	10911239	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0115546976135576	0.122
18	10911237	A	T	18	10911239	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.059114776493158	0.412
18	10911238	G	A	18	10911240	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.26594101635923E-5	0.002
18	10911238	G	C	18	10911240	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.45861080344519E-4	0.006
18	10911238	G	T	18	10911240	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.83949830035147E-4	0.044
18	10979525	A	C	18	10979527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.31034427431735E-4	0.002
18	10979525	A	G	18	10979527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.49096535926034E-4	0.02
18	10979525	A	T	18	10979527	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.9420541263719E-4	0.012
18	10979526	T	A	18	10979528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.81995630744733E-4	0.206
18	10979526	T	C	18	10979528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.42031787229401E-4	0.016
18	10979526	T	G	18	10979528	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.42031787229401E-4	0.024
18	10979527	A	C	18	10979529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998962512631967	0.882
18	10979527	A	G	18	10979529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998310633862065	0.958
18	10979527	A	T	18	10979529	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998874369584072	0.828
18	10979528	C	A	18	10979530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999957015490162	0.974
18	10979528	C	G	18	10979530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999969162415415	0.984
18	10979528	C	T	18	10979530	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999971214631254	0.996
18	10979529	T	A	18	10979531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999889697359491	0.942
18	10979529	T	C	18	10979531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999886806731412	0.974
18	10979529	T	G	18	10979531	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999915716445746	0.948
18	10979530	C	A	18	10979532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998422182855499	0.73
18	10979530	C	G	18	10979532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998788233950765	0.776
18	10979530	C	T	18	10979532	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.25484600285279E-4	0.0
18	10979531	A	C	18	10979533	y	y	splicing	PIEZO2(NM_022068:exon4:c.286+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.286+2T>G;ENST00000582913:exon4:c.286+2T>G;ENST00000503781:exon4:c.286+2T>G;ENST00000580640:exon4:c.286+2T>G)	.	.	0.999988247793601	0.93
18	10979531	A	G	18	10979533	y	y	splicing	PIEZO2(NM_022068:exon4:c.286+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.286+2T>C;ENST00000582913:exon4:c.286+2T>C;ENST00000503781:exon4:c.286+2T>C;ENST00000580640:exon4:c.286+2T>C)	.	.	0.999967228322664	0.882
18	10979531	A	T	18	10979533	y	y	splicing	PIEZO2(NM_022068:exon4:c.286+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.286+2T>A;ENST00000582913:exon4:c.286+2T>A;ENST00000503781:exon4:c.286+2T>A;ENST00000580640:exon4:c.286+2T>A)	.	.	0.999988247793601	0.93
18	10979532	C	A	18	10979534	y	y	splicing	PIEZO2(NM_022068:exon4:c.286+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.286+1G>T;ENST00000582913:exon4:c.286+1G>T;ENST00000503781:exon4:c.286+1G>T;ENST00000580640:exon4:c.286+1G>T)	.	.	0.999989072007339	0.934
18	10979532	C	G	18	10979534	y	y	splicing	PIEZO2(NM_022068:exon4:c.286+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.286+1G>C;ENST00000582913:exon4:c.286+1G>C;ENST00000503781:exon4:c.286+1G>C;ENST00000580640:exon4:c.286+1G>C)	.	.	0.999989072007339	0.934
18	10979532	C	T	18	10979534	y	y	splicing	PIEZO2(NM_022068:exon4:c.286+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.286+1G>A;ENST00000582913:exon4:c.286+1G>A;ENST00000503781:exon4:c.286+1G>A;ENST00000580640:exon4:c.286+1G>A)	.	.	0.999989072007339	0.934
18	10979533	A	C	18	10979535	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.T286G:p.C96G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.T286G:p.C96G;ENSG00000154864:ENST00000582913:exon3:c.T286G:p.C96G;ENSG00000154864:ENST00000503781:exon3:c.T286G:p.C96G;ENSG00000154864:ENST00000302079:exon3:c.T286G:p.C96G;	0.0029695464064082	0.064
18	10979533	A	G	18	10979535	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.T286C:p.C96R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.T286C:p.C96R;ENSG00000154864:ENST00000582913:exon3:c.T286C:p.C96R;ENSG00000154864:ENST00000503781:exon3:c.T286C:p.C96R;ENSG00000154864:ENST00000302079:exon3:c.T286C:p.C96R;	0.181218025427692	0.394
18	10979533	A	T	18	10979535	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.T286A:p.C96S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.T286A:p.C96S;ENSG00000154864:ENST00000582913:exon3:c.T286A:p.C96S;ENSG00000154864:ENST00000503781:exon3:c.T286A:p.C96S;ENSG00000154864:ENST00000302079:exon3:c.T286A:p.C96S;	0.321849736632016	0.45
18	10979534	G	A	18	10979536	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon3:c.C285T:p.N95N;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.C285T:p.N95N;ENSG00000154864:ENST00000582913:exon3:c.C285T:p.N95N;ENSG00000154864:ENST00000503781:exon3:c.C285T:p.N95N;ENSG00000154864:ENST00000302079:exon3:c.C285T:p.N95N;	0.987825972378391	0.804
18	10979534	G	C	18	10979536	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.C285G:p.N95K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.C285G:p.N95K;ENSG00000154864:ENST00000582913:exon3:c.C285G:p.N95K;ENSG00000154864:ENST00000503781:exon3:c.C285G:p.N95K;ENSG00000154864:ENST00000302079:exon3:c.C285G:p.N95K;	0.946771325893427	0.698
18	10979534	G	T	18	10979536	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.C285A:p.N95K;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.C285A:p.N95K;ENSG00000154864:ENST00000582913:exon3:c.C285A:p.N95K;ENSG00000154864:ENST00000503781:exon3:c.C285A:p.N95K;ENSG00000154864:ENST00000302079:exon3:c.C285A:p.N95K;	0.734454403953878	0.548
18	10979535	T	A	18	10979537	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.A284T:p.N95I;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.A284T:p.N95I;ENSG00000154864:ENST00000582913:exon3:c.A284T:p.N95I;ENSG00000154864:ENST00000503781:exon3:c.A284T:p.N95I;ENSG00000154864:ENST00000302079:exon3:c.A284T:p.N95I;	0.993526871933518	0.69
18	10979535	T	C	18	10979537	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.A284G:p.N95S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.A284G:p.N95S;ENSG00000154864:ENST00000582913:exon3:c.A284G:p.N95S;ENSG00000154864:ENST00000503781:exon3:c.A284G:p.N95S;ENSG00000154864:ENST00000302079:exon3:c.A284G:p.N95S;	0.203993708751404	0.41
18	10979535	T	G	18	10979537	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.A284C:p.N95T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.A284C:p.N95T;ENSG00000154864:ENST00000582913:exon3:c.A284C:p.N95T;ENSG00000154864:ENST00000503781:exon3:c.A284C:p.N95T;ENSG00000154864:ENST00000302079:exon3:c.A284C:p.N95T;	0.176462875620241	0.366
18	10979657	T	A	18	10979659	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon3:c.A162T:p.G54G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.A162T:p.G54G;ENSG00000154864:ENST00000582913:exon3:c.A162T:p.G54G;ENSG00000154864:ENST00000503781:exon3:c.A162T:p.G54G;ENSG00000154864:ENST00000302079:exon3:c.A162T:p.G54G;	8.44967693606704E-5	0.002
18	10979657	T	C	18	10979659	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon3:c.A162G:p.G54G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.A162G:p.G54G;ENSG00000154864:ENST00000582913:exon3:c.A162G:p.G54G;ENSG00000154864:ENST00000503781:exon3:c.A162G:p.G54G;ENSG00000154864:ENST00000302079:exon3:c.A162G:p.G54G;	1.07596955787031E-4	0.006
18	10979657	T	G	18	10979659	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon3:c.A162C:p.G54G;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.A162C:p.G54G;ENSG00000154864:ENST00000582913:exon3:c.A162C:p.G54G;ENSG00000154864:ENST00000503781:exon3:c.A162C:p.G54G;ENSG00000154864:ENST00000302079:exon3:c.A162C:p.G54G;	2.55249904813088E-4	0.006
18	10979658	C	A	18	10979660	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.G161T:p.G54V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.G161T:p.G54V;ENSG00000154864:ENST00000582913:exon3:c.G161T:p.G54V;ENSG00000154864:ENST00000503781:exon3:c.G161T:p.G54V;ENSG00000154864:ENST00000302079:exon3:c.G161T:p.G54V;	0.991869558157088	0.706
18	10979658	C	G	18	10979660	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.G161C:p.G54A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.G161C:p.G54A;ENSG00000154864:ENST00000582913:exon3:c.G161C:p.G54A;ENSG00000154864:ENST00000503781:exon3:c.G161C:p.G54A;ENSG00000154864:ENST00000302079:exon3:c.G161C:p.G54A;	0.98775833053632	0.668
18	10979658	C	T	18	10979660	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon3:c.G161A:p.G54E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon3:c.G161A:p.G54E;ENSG00000154864:ENST00000582913:exon3:c.G161A:p.G54E;ENSG00000154864:ENST00000503781:exon3:c.G161A:p.G54E;ENSG00000154864:ENST00000302079:exon3:c.G161A:p.G54E;	0.792367944745906	0.556
18	10979659	C	A	18	10979661	y	y	splicing	PIEZO2(NM_022068:exon4:c.161-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.161-1G>T;ENST00000582913:exon4:c.161-1G>T;ENST00000503781:exon4:c.161-1G>T;ENST00000580640:exon4:c.161-1G>T)	.	.	0.999980428708689	0.93
18	10979659	C	G	18	10979661	y	y	splicing	PIEZO2(NM_022068:exon4:c.161-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.161-1G>C;ENST00000582913:exon4:c.161-1G>C;ENST00000503781:exon4:c.161-1G>C;ENST00000580640:exon4:c.161-1G>C)	.	.	0.999949496871441	0.93
18	10979659	C	T	18	10979661	y	y	splicing	PIEZO2(NM_022068:exon4:c.161-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.161-1G>A;ENST00000582913:exon4:c.161-1G>A;ENST00000503781:exon4:c.161-1G>A;ENST00000580640:exon4:c.161-1G>A)	.	.	0.999980428708689	0.936
18	10979660	T	A	18	10979662	y	y	splicing	PIEZO2(NM_022068:exon4:c.161-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.161-2A>T;ENST00000582913:exon4:c.161-2A>T;ENST00000503781:exon4:c.161-2A>T;ENST00000580640:exon4:c.161-2A>T)	.	.	0.99994568797423	0.932
18	10979660	T	C	18	10979662	y	y	splicing	PIEZO2(NM_022068:exon4:c.161-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.161-2A>G;ENST00000582913:exon4:c.161-2A>G;ENST00000503781:exon4:c.161-2A>G;ENST00000580640:exon4:c.161-2A>G)	.	.	0.99994568797423	0.938
18	10979660	T	G	18	10979662	y	y	splicing	PIEZO2(NM_022068:exon4:c.161-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon4:c.161-2A>C;ENST00000582913:exon4:c.161-2A>C;ENST00000503781:exon4:c.161-2A>C;ENST00000580640:exon4:c.161-2A>C)	.	.	0.99994568797423	0.942
18	10979661	A	C	18	10979663	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.974027807461856	0.702
18	10979661	A	G	18	10979663	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.37698708291864E-5	0.024
18	10979661	A	T	18	10979663	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0229222027382373	0.19
18	10979662	A	C	18	10979664	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.65679997808067E-5	0.0
18	10979662	A	G	18	10979664	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.61216619470652E-5	0.0
18	10979662	A	T	18	10979664	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.66763534441449E-5	0.002
18	10979663	G	A	18	10979665	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.10334292354199E-5	0.028
18	10979663	G	C	18	10979665	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00239843420294456	0.174
18	10979663	G	T	18	10979665	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.09432275626672E-4	0.076
18	10979664	G	A	18	10979666	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.9020463674299E-5	0.02
18	10979664	G	C	18	10979666	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.62190786777894E-4	0.148
18	10979664	G	T	18	10979666	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.24355562505623E-4	0.148
18	10979665	G	A	18	10979667	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.34192258486623E-5	0.002
18	10979665	G	C	18	10979667	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.35024083831887E-4	0.016
18	10979665	G	T	18	10979667	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.12039112066023E-4	0.08
18	10979666	A	C	18	10979668	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.959617079498566	0.934
18	10979666	A	G	18	10979668	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.40034645163372E-6	0.0
18	10979666	A	T	18	10979668	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.15271499930012E-4	0.018
18	10979667	T	A	18	10979669	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.59805425391709E-5	0.002
18	10979667	T	C	18	10979669	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.19702509062042E-5	0.0
18	10979667	T	G	18	10979669	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.13667013201319E-5	0.0
18	10979668	A	C	18	10979670	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.33629747031579E-4	0.102
18	10979668	A	G	18	10979670	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.62137913809146E-5	0.0
18	10979668	A	T	18	10979670	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.77404216307418E-4	0.05
18	10979669	A	C	18	10979671	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00125414078622017	0.114
18	10979669	A	G	18	10979671	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.83402622472457E-4	0.036
18	10979669	A	T	18	10979671	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00169330680958815	0.158
18	10979670	A	C	18	10979672	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.28952478672804E-4	0.098
18	10979670	A	G	18	10979672	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.76099532820907E-4	0.012
18	10979670	A	T	18	10979672	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.07849096383994E-4	0.102
18	11066118	T	A	18	11066119	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.47525533433289E-5	0.004
18	11066118	T	C	18	11066119	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.77297966092203E-5	0.004
18	11066118	T	G	18	11066119	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.77297966092203E-5	0.006
18	11066119	C	A	18	11066120	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.52881759733747E-5	0.0
18	11066119	C	G	18	11066120	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.52881759733747E-5	0.0
18	11066119	C	T	18	11066120	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.30945796578933E-5	0.0
18	11066120	T	A	18	11066121	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.29408740864524E-5	0.006
18	11066120	T	C	18	11066121	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.51818177622131E-5	0.0
18	11066120	T	G	18	11066121	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.17559123334175E-4	0.004
18	11066121	C	A	18	11066122	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.991248551829897	0.55
18	11066121	C	G	18	11066122	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.972368659578891	0.63
18	11066121	C	T	18	11066122	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997048202527384	0.658
18	11066122	T	A	18	11066123	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.753181620705187	0.642
18	11066122	T	C	18	11066123	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.845730899454839	0.514
18	11066122	T	G	18	11066123	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.708532831242034	0.64
18	11066123	T	A	18	11066124	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.966762541906197	0.672
18	11066123	T	C	18	11066124	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.17194782756049	0.274
18	11066123	T	G	18	11066124	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.983177564099731	0.696
18	11066124	A	C	18	11066125	y	y	splicing	PIEZO2(NM_022068:exon3:c.160+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.160+2T>G;ENST00000582913:exon3:c.160+2T>G;ENST00000503781:exon3:c.160+2T>G;ENST00000580640:exon3:c.160+2T>G)	.	.	0.999988247793601	0.926
18	11066124	A	G	18	11066125	y	y	splicing	PIEZO2(NM_022068:exon3:c.160+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.160+2T>C;ENST00000582913:exon3:c.160+2T>C;ENST00000503781:exon3:c.160+2T>C;ENST00000580640:exon3:c.160+2T>C)	.	.	0.986973409415639	0.654
18	11066124	A	T	18	11066125	y	y	splicing	PIEZO2(NM_022068:exon3:c.160+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.160+2T>A;ENST00000582913:exon3:c.160+2T>A;ENST00000503781:exon3:c.160+2T>A;ENST00000580640:exon3:c.160+2T>A)	.	.	0.999988247793601	0.926
18	11066125	C	A	18	11066126	y	y	splicing	PIEZO2(NM_022068:exon3:c.160+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.160+1G>T;ENST00000582913:exon3:c.160+1G>T;ENST00000503781:exon3:c.160+1G>T;ENST00000580640:exon3:c.160+1G>T)	.	.	0.999989072007339	0.934
18	11066125	C	G	18	11066126	y	y	splicing	PIEZO2(NM_022068:exon3:c.160+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.160+1G>C;ENST00000582913:exon3:c.160+1G>C;ENST00000503781:exon3:c.160+1G>C;ENST00000580640:exon3:c.160+1G>C)	.	.	0.999989072007339	0.934
18	11066125	C	T	18	11066126	y	y	splicing	PIEZO2(NM_022068:exon3:c.160+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.160+1G>A;ENST00000582913:exon3:c.160+1G>A;ENST00000503781:exon3:c.160+1G>A;ENST00000580640:exon3:c.160+1G>A)	.	.	0.999989072007339	0.934
18	11066126	C	A	18	11066127	y	y	exonic	PIEZO2	stopgain SNV	PIEZO2:NM_022068:exon2:c.G160T:p.G54X;	exonic	ENSG00000154864	stopgain SNV	ENSG00000154864:ENST00000580640:exon2:c.G160T:p.G54X;ENSG00000154864:ENST00000582913:exon2:c.G160T:p.G54X;ENSG00000154864:ENST00000503781:exon2:c.G160T:p.G54X;ENSG00000154864:ENST00000302079:exon2:c.G160T:p.G54X;	0.99988139376593	0.968
18	11066126	C	G	18	11066127	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.G160C:p.G54R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.G160C:p.G54R;ENSG00000154864:ENST00000582913:exon2:c.G160C:p.G54R;ENSG00000154864:ENST00000503781:exon2:c.G160C:p.G54R;ENSG00000154864:ENST00000302079:exon2:c.G160C:p.G54R;	0.998698873197268	0.83
18	11066126	C	T	18	11066127	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.G160A:p.G54R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.G160A:p.G54R;ENSG00000154864:ENST00000582913:exon2:c.G160A:p.G54R;ENSG00000154864:ENST00000503781:exon2:c.G160A:p.G54R;ENSG00000154864:ENST00000302079:exon2:c.G160A:p.G54R;	0.998960026924101	0.95
18	11066127	T	A	18	11066128	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.A159T:p.Q53H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A159T:p.Q53H;ENSG00000154864:ENST00000582913:exon2:c.A159T:p.Q53H;ENSG00000154864:ENST00000503781:exon2:c.A159T:p.Q53H;ENSG00000154864:ENST00000302079:exon2:c.A159T:p.Q53H;	0.340877541218424	0.418
18	11066127	T	C	18	11066128	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon2:c.A159G:p.Q53Q;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A159G:p.Q53Q;ENSG00000154864:ENST00000582913:exon2:c.A159G:p.Q53Q;ENSG00000154864:ENST00000503781:exon2:c.A159G:p.Q53Q;ENSG00000154864:ENST00000302079:exon2:c.A159G:p.Q53Q;	0.552454409966332	0.452
18	11066127	T	G	18	11066128	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.A159C:p.Q53H;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A159C:p.Q53H;ENSG00000154864:ENST00000582913:exon2:c.A159C:p.Q53H;ENSG00000154864:ENST00000503781:exon2:c.A159C:p.Q53H;ENSG00000154864:ENST00000302079:exon2:c.A159C:p.Q53H;	0.114169012140696	0.424
18	11066128	T	A	18	11066129	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.A158T:p.Q53L;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A158T:p.Q53L;ENSG00000154864:ENST00000582913:exon2:c.A158T:p.Q53L;ENSG00000154864:ENST00000503781:exon2:c.A158T:p.Q53L;ENSG00000154864:ENST00000302079:exon2:c.A158T:p.Q53L;	0.0624553278299921	0.268
18	11066128	T	C	18	11066129	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.A158G:p.Q53R;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A158G:p.Q53R;ENSG00000154864:ENST00000582913:exon2:c.A158G:p.Q53R;ENSG00000154864:ENST00000503781:exon2:c.A158G:p.Q53R;ENSG00000154864:ENST00000302079:exon2:c.A158G:p.Q53R;	0.00153591144054914	0.056
18	11066128	T	G	18	11066129	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.A158C:p.Q53P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A158C:p.Q53P;ENSG00000154864:ENST00000582913:exon2:c.A158C:p.Q53P;ENSG00000154864:ENST00000503781:exon2:c.A158C:p.Q53P;ENSG00000154864:ENST00000302079:exon2:c.A158C:p.Q53P;	0.00134869700043687	0.014
18	11066220	T	A	18	11066221	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon2:c.A66T:p.A22A;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A66T:p.A22A;ENSG00000154864:ENST00000582913:exon2:c.A66T:p.A22A;ENSG00000154864:ENST00000503781:exon2:c.A66T:p.A22A;ENSG00000154864:ENST00000302079:exon2:c.A66T:p.A22A;	8.83055604074102E-6	0.004
18	11066220	T	C	18	11066221	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon2:c.A66G:p.A22A;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A66G:p.A22A;ENSG00000154864:ENST00000582913:exon2:c.A66G:p.A22A;ENSG00000154864:ENST00000503781:exon2:c.A66G:p.A22A;ENSG00000154864:ENST00000302079:exon2:c.A66G:p.A22A;	2.43028398589472E-5	0.014
18	11066220	T	G	18	11066221	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon2:c.A66C:p.A22A;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.A66C:p.A22A;ENSG00000154864:ENST00000582913:exon2:c.A66C:p.A22A;ENSG00000154864:ENST00000503781:exon2:c.A66C:p.A22A;ENSG00000154864:ENST00000302079:exon2:c.A66C:p.A22A;	2.56297456776063E-5	0.0
18	11066221	G	A	18	11066222	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.C65T:p.A22V;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.C65T:p.A22V;ENSG00000154864:ENST00000582913:exon2:c.C65T:p.A22V;ENSG00000154864:ENST00000503781:exon2:c.C65T:p.A22V;ENSG00000154864:ENST00000302079:exon2:c.C65T:p.A22V;	0.987793812927298	0.848
18	11066221	G	C	18	11066222	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.C65G:p.A22G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.C65G:p.A22G;ENSG00000154864:ENST00000582913:exon2:c.C65G:p.A22G;ENSG00000154864:ENST00000503781:exon2:c.C65G:p.A22G;ENSG00000154864:ENST00000302079:exon2:c.C65G:p.A22G;	0.477816500190127	0.38
18	11066221	G	T	18	11066222	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon2:c.C65A:p.A22E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon2:c.C65A:p.A22E;ENSG00000154864:ENST00000582913:exon2:c.C65A:p.A22E;ENSG00000154864:ENST00000503781:exon2:c.C65A:p.A22E;ENSG00000154864:ENST00000302079:exon2:c.C65A:p.A22E;	0.475253817109305	0.48
18	11066222	C	A	18	11066223	y	y	splicing	PIEZO2(NM_022068:exon3:c.65-1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.65-1G>T;ENST00000582913:exon3:c.65-1G>T;ENST00000503781:exon3:c.65-1G>T;ENST00000580640:exon3:c.65-1G>T)	.	.	0.999989072007339	0.934
18	11066222	C	G	18	11066223	y	y	splicing	PIEZO2(NM_022068:exon3:c.65-1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.65-1G>C;ENST00000582913:exon3:c.65-1G>C;ENST00000503781:exon3:c.65-1G>C;ENST00000580640:exon3:c.65-1G>C)	.	.	0.999989072007339	0.934
18	11066222	C	T	18	11066223	y	y	splicing	PIEZO2(NM_022068:exon3:c.65-1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.65-1G>A;ENST00000582913:exon3:c.65-1G>A;ENST00000503781:exon3:c.65-1G>A;ENST00000580640:exon3:c.65-1G>A)	.	.	0.999989072007339	0.934
18	11066223	T	A	18	11066224	y	y	splicing	PIEZO2(NM_022068:exon3:c.65-2A>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.65-2A>T;ENST00000582913:exon3:c.65-2A>T;ENST00000503781:exon3:c.65-2A>T;ENST00000580640:exon3:c.65-2A>T)	.	.	0.999988247793601	0.926
18	11066223	T	C	18	11066224	y	y	splicing	PIEZO2(NM_022068:exon3:c.65-2A>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.65-2A>G;ENST00000582913:exon3:c.65-2A>G;ENST00000503781:exon3:c.65-2A>G;ENST00000580640:exon3:c.65-2A>G)	.	.	0.999988247793601	0.926
18	11066223	T	G	18	11066224	y	y	splicing	PIEZO2(NM_022068:exon3:c.65-2A>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon3:c.65-2A>C;ENST00000582913:exon3:c.65-2A>C;ENST00000503781:exon3:c.65-2A>C;ENST00000580640:exon3:c.65-2A>C)	.	.	0.999988247793601	0.926
18	11066224	G	A	18	11066225	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.383141614829906	0.172
18	11066224	G	C	18	11066225	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999956086353083	0.968
18	11066224	G	T	18	11066225	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999584037012493	0.944
18	11066225	T	A	18	11066226	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.31015541683568E-4	0.042
18	11066225	T	C	18	11066226	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.57509112479641E-5	0.022
18	11066225	T	G	18	11066226	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.00847070813035E-4	0.056
18	11066226	G	A	18	11066227	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.69998088136974E-5	0.006
18	11066226	G	C	18	11066227	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00530125249989199	0.12
18	11066226	G	T	18	11066227	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	8.02159762099896E-4	0.078
18	11066227	G	A	18	11066228	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	4.96742225428801E-5	0.0
18	11066227	G	C	18	11066228	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00624202936714949	0.122
18	11066227	G	T	18	11066228	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00596786356374847	0.114
18	11066228	G	A	18	11066229	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.138459603723E-5	0.0
18	11066228	G	C	18	11066229	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.998671787880903	0.944
18	11066228	G	T	18	11066229	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00111560283361104	0.064
18	11066229	T	A	18	11066230	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.84084187790723E-6	0.0
18	11066229	T	C	18	11066230	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.02608239261508E-5	0.0
18	11066229	T	G	18	11066230	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.25978081829882E-5	0.0
18	11066230	G	A	18	11066231	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.35254694759902E-5	0.006
18	11066230	G	C	18	11066231	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00373867679422047	0.114
18	11066230	G	T	18	11066231	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00121161878270806	0.096
18	11066231	G	A	18	11066232	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	7.54842130893826E-6	0.0
18	11066231	G	C	18	11066232	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.67251171856668E-4	0.04
18	11066231	G	T	18	11066232	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00116750811352639	0.148
18	11066232	G	A	18	11066233	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.37176766083802E-5	0.002
18	11066232	G	C	18	11066233	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	2.53919816841493E-4	0.052
18	11066232	G	T	18	11066233	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.37209556790304E-4	0.056
18	11066233	A	C	18	11066234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.0025192436173609	0.058
18	11066233	A	G	18	11066234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	3.21374173190946E-5	0.0
18	11066233	A	T	18	11066234	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.00269296412432471	0.096
18	11148516	A	C	18	11148517	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.7357792130175E-4	0.0
18	11148516	A	G	18	11148517	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.7357792130175E-4	0.0
18	11148516	A	T	18	11148517	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	1.98561944552076E-4	0.026
18	11148517	G	A	18	11148518	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.09983635597947E-5	0.0
18	11148517	G	C	18	11148518	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	9.09983635597947E-5	0.0
18	11148517	G	T	18	11148518	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	5.24236979434921E-5	0.0
18	11148518	A	C	18	11148519	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.984775762616028	0.718
18	11148518	A	G	18	11148519	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.993375898378256	0.668
18	11148518	A	T	18	11148519	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.997940406796448	0.808
18	11148519	C	A	18	11148520	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999536699683604	0.768
18	11148519	C	G	18	11148520	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999747874890472	0.862
18	11148519	C	T	18	11148520	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999829797641047	0.864
18	11148520	T	A	18	11148521	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999761141032652	0.848
18	11148520	T	C	18	11148521	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999828442762274	0.94
18	11148520	T	G	18	11148521	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.999140261810329	0.898
18	11148521	C	A	18	11148522	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.690796039364537	0.586
18	11148521	C	G	18	11148522	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	0.715106349871617	0.712
18	11148521	C	T	18	11148522	y	y	intronic	PIEZO2	.	.	intronic	ENSG00000154864	.	.	6.84837381021085E-4	0.062
18	11148522	A	C	18	11148523	y	y	splicing	PIEZO2(NM_022068:exon2:c.64+2T>G)	.	.	splicing	ENSG00000154864(ENST00000302079:exon2:c.64+2T>G;ENST00000582913:exon2:c.64+2T>G;ENST00000503781:exon2:c.64+2T>G;ENST00000580640:exon2:c.64+2T>G)	.	.	0.999981808176352	0.92
18	11148522	A	G	18	11148523	y	y	splicing	PIEZO2(NM_022068:exon2:c.64+2T>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon2:c.64+2T>C;ENST00000582913:exon2:c.64+2T>C;ENST00000503781:exon2:c.64+2T>C;ENST00000580640:exon2:c.64+2T>C)	.	.	0.999965898635511	0.87
18	11148522	A	T	18	11148523	y	y	splicing	PIEZO2(NM_022068:exon2:c.64+2T>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon2:c.64+2T>A;ENST00000582913:exon2:c.64+2T>A;ENST00000503781:exon2:c.64+2T>A;ENST00000580640:exon2:c.64+2T>A)	.	.	0.999981808176352	0.92
18	11148523	C	A	18	11148524	y	y	splicing	PIEZO2(NM_022068:exon2:c.64+1G>T)	.	.	splicing	ENSG00000154864(ENST00000302079:exon2:c.64+1G>T;ENST00000582913:exon2:c.64+1G>T;ENST00000503781:exon2:c.64+1G>T;ENST00000580640:exon2:c.64+1G>T)	.	.	0.999986675681007	0.932
18	11148523	C	G	18	11148524	y	y	splicing	PIEZO2(NM_022068:exon2:c.64+1G>C)	.	.	splicing	ENSG00000154864(ENST00000302079:exon2:c.64+1G>C;ENST00000582913:exon2:c.64+1G>C;ENST00000503781:exon2:c.64+1G>C;ENST00000580640:exon2:c.64+1G>C)	.	.	0.999986675681007	0.932
18	11148523	C	T	18	11148524	y	y	splicing	PIEZO2(NM_022068:exon2:c.64+1G>A)	.	.	splicing	ENSG00000154864(ENST00000302079:exon2:c.64+1G>A;ENST00000582913:exon2:c.64+1G>A;ENST00000503781:exon2:c.64+1G>A;ENST00000580640:exon2:c.64+1G>A)	.	.	0.999986675681007	0.932
18	11148524	C	A	18	11148525	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon1:c.G64T:p.A22S;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.G64T:p.A22S;ENSG00000154864:ENST00000582913:exon1:c.G64T:p.A22S;ENSG00000154864:ENST00000503781:exon1:c.G64T:p.A22S;ENSG00000154864:ENST00000302079:exon1:c.G64T:p.A22S;	0.999951017954652	0.994
18	11148524	C	G	18	11148525	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon1:c.G64C:p.A22P;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.G64C:p.A22P;ENSG00000154864:ENST00000582913:exon1:c.G64C:p.A22P;ENSG00000154864:ENST00000503781:exon1:c.G64C:p.A22P;ENSG00000154864:ENST00000302079:exon1:c.G64C:p.A22P;	0.99973898886699	0.976
18	11148524	C	T	18	11148525	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon1:c.G64A:p.A22T;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.G64A:p.A22T;ENSG00000154864:ENST00000582913:exon1:c.G64A:p.A22T;ENSG00000154864:ENST00000503781:exon1:c.G64A:p.A22T;ENSG00000154864:ENST00000302079:exon1:c.G64A:p.A22T;	0.999934142745923	0.984
18	11148525	T	A	18	11148526	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon1:c.A63T:p.V21V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.A63T:p.V21V;ENSG00000154864:ENST00000582913:exon1:c.A63T:p.V21V;ENSG00000154864:ENST00000503781:exon1:c.A63T:p.V21V;ENSG00000154864:ENST00000302079:exon1:c.A63T:p.V21V;	0.316805265303811	0.514
18	11148525	T	C	18	11148526	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon1:c.A63G:p.V21V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.A63G:p.V21V;ENSG00000154864:ENST00000582913:exon1:c.A63G:p.V21V;ENSG00000154864:ENST00000503781:exon1:c.A63G:p.V21V;ENSG00000154864:ENST00000302079:exon1:c.A63G:p.V21V;	0.863969247249804	0.544
18	11148525	T	G	18	11148526	y	y	exonic	PIEZO2	synonymous SNV	PIEZO2:NM_022068:exon1:c.A63C:p.V21V;	exonic	ENSG00000154864	synonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.A63C:p.V21V;ENSG00000154864:ENST00000582913:exon1:c.A63C:p.V21V;ENSG00000154864:ENST00000503781:exon1:c.A63C:p.V21V;ENSG00000154864:ENST00000302079:exon1:c.A63C:p.V21V;	0.235327240764743	0.542
18	11148526	A	C	18	11148527	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon1:c.T62G:p.V21G;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.T62G:p.V21G;ENSG00000154864:ENST00000582913:exon1:c.T62G:p.V21G;ENSG00000154864:ENST00000503781:exon1:c.T62G:p.V21G;ENSG00000154864:ENST00000302079:exon1:c.T62G:p.V21G;	0.00349346255830096	0.024
18	11148526	A	G	18	11148527	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon1:c.T62C:p.V21A;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.T62C:p.V21A;ENSG00000154864:ENST00000582913:exon1:c.T62C:p.V21A;ENSG00000154864:ENST00000503781:exon1:c.T62C:p.V21A;ENSG00000154864:ENST00000302079:exon1:c.T62C:p.V21A;	0.00411395100866838	0.092
18	11148526	A	T	18	11148527	y	y	exonic	PIEZO2	nonsynonymous SNV	PIEZO2:NM_022068:exon1:c.T62A:p.V21E;	exonic	ENSG00000154864	nonsynonymous SNV	ENSG00000154864:ENST00000580640:exon1:c.T62A:p.V21E;ENSG00000154864:ENST00000582913:exon1:c.T62A:p.V21E;ENSG00000154864:ENST00000503781:exon1:c.T62A:p.V21E;ENSG00000154864:ENST00000302079:exon1:c.T62A:p.V21E;	0.00346110882998479	0.096
18	11689936	T	A	18	11689937	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon1:c.T374A:p.L125H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.T374A:p.L125H;	0.425497527153365	0.59
18	11689936	T	C	18	11689937	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon1:c.T374C:p.L125P;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.T374C:p.L125P;	0.369890986926449	0.482
18	11689936	T	G	18	11689937	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon1:c.T374G:p.L125R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.T374G:p.L125R;	0.530915783750931	0.59
18	11689937	C	A	18	11689938	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon1:c.C375A:p.L125L;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.C375A:p.L125L;	1.55812202079012E-4	0.138
18	11689937	C	G	18	11689938	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon1:c.C375G:p.L125L;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.C375G:p.L125L;	9.39048842869955E-4	0.086
18	11689937	C	T	18	11689938	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon1:c.C375T:p.L125L;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.C375T:p.L125L;	0.00133934466126718	0.112
18	11689938	G	A	18	11689939	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon1:c.G376A:p.G126R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.G376A:p.G126R;	0.999982958292106	1.0
18	11689938	G	C	18	11689939	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon1:c.G376C:p.G126R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.G376C:p.G126R;	0.999995269959595	0.986
18	11689938	G	T	18	11689939	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon1:c.G376T:p.G126W;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000334049:exon1:c.G376T:p.G126W;	0.999992657141969	0.998
18	11689939	G	A	18	11689940	y	y	splicing	GNAL(NM_182978:exon1:c.376+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon1:c.376+1G>A)	.	.	0.999989917668626	0.928
18	11689939	G	C	18	11689940	y	y	splicing	GNAL(NM_182978:exon1:c.376+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon1:c.376+1G>C)	.	.	0.999989917668626	0.928
18	11689939	G	T	18	11689940	y	y	splicing	GNAL(NM_182978:exon1:c.376+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon1:c.376+1G>T)	.	.	0.999989917668626	0.928
18	11689940	T	A	18	11689941	y	y	splicing	GNAL(NM_182978:exon1:c.376+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon1:c.376+2T>A)	.	.	0.999993672935256	0.928
18	11689940	T	C	18	11689941	y	y	splicing	GNAL(NM_182978:exon1:c.376+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon1:c.376+2T>C)	.	.	0.989732985218383	0.598
18	11689940	T	G	18	11689941	y	y	splicing	GNAL(NM_182978:exon1:c.376+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon1:c.376+2T>G)	.	.	0.999993672935256	0.928
18	11689941	A	C	18	11689942	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999040282704286	0.812
18	11689941	A	G	18	11689942	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.547592655255021	0.552
18	11689941	A	T	18	11689942	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.99869295765595	0.8
18	11689942	G	A	18	11689943	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0226888664877103	0.208
18	11689942	G	C	18	11689943	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.264751123433941	0.622
18	11689942	G	T	18	11689943	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.243475028405793	0.488
18	11689943	G	A	18	11689944	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999971229517421	0.992
18	11689943	G	C	18	11689944	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999990192202105	0.984
18	11689943	G	T	18	11689944	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999990663989661	0.958
18	11689944	T	A	18	11689945	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.978495626253156	0.614
18	11689944	T	C	18	11689945	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.971529756914928	0.698
18	11689944	T	G	18	11689945	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.972585087268528	0.796
18	11689945	C	A	18	11689946	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.58538575543191E-5	0.0
18	11689945	C	G	18	11689946	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.36928203753704E-5	0.0
18	11689945	C	T	18	11689946	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.41389284684483E-5	0.002
18	11689946	C	A	18	11689947	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.77839266722737E-4	0.002
18	11689946	C	G	18	11689947	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.29260654022657E-4	0.004
18	11689946	C	T	18	11689947	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.95900519878232E-4	0.026
18	11751505	C	A	18	11751506	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.225717161231706	0.418
18	11751505	C	G	18	11751506	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.225717161231706	0.402
18	11751505	C	T	18	11751506	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.32953558511743	0.502
18	11751506	T	A	18	11751507	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.1483700964636E-4	0.0
18	11751506	T	C	18	11751507	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.1483700964636E-4	0.0
18	11751506	T	G	18	11751507	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.1483700964636E-4	0.0
18	11751507	G	A	18	11751508	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0828302955216034	0.402
18	11751507	G	C	18	11751508	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0269543068628963	0.15
18	11751507	G	T	18	11751508	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.061215657049389	0.218
18	11751508	G	A	18	11751509	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.418005070107508	0.648
18	11751508	G	C	18	11751509	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.329832208847985	0.512
18	11751508	G	T	18	11751509	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.358778981685382	0.6
18	11751509	T	A	18	11751510	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	1.24584308550926E-4	0.0
18	11751509	T	C	18	11751510	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	1.37326466584076E-4	0.0
18	11751509	T	G	18	11751510	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	1.37326466584076E-4	0.0
18	11751510	G	A	18	11751511	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00147476233483463	0.002
18	11751510	G	C	18	11751511	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0014243500876533	0.002
18	11751510	G	T	18	11751511	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00147476233483463	0.002
18	11751511	A	C	18	11751512	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	7.02110355052317E-5	0.0
18	11751511	A	G	18	11751512	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	7.02110355052317E-5	0.0
18	11751511	A	T	18	11751512	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	7.07088539187276E-5	0.02
18	11751512	G	A	18	11751513	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.98833117949958E-4	0.004
18	11751512	G	C	18	11751513	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.57636519749646E-4	0.006
18	11751512	G	T	18	11751513	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.98833117949958E-4	0.006
18	11751513	C	A	18	11751514	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0126869538811265	0.026
18	11751513	C	G	18	11751514	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0126869538811265	0.028
18	11751513	C	T	18	11751514	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0195455306532845	0.03
18	11751514	C	A	18	11751515	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00898724222648565	0.028
18	11751514	C	G	18	11751515	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.010367726281195	0.028
18	11751514	C	T	18	11751515	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.010800851317721	0.03
18	11751515	T	A	18	11751516	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00115202640557102	0.01
18	11751515	T	C	18	11751516	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	9.13516392517987E-4	0.01
18	11751515	T	G	18	11751516	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00115202640557102	0.01
18	11751703	C	A	18	11751704	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	3.24417373667621E-4	0.024
18	11751703	C	G	18	11751704	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	4.62995467738193E-4	0.022
18	11751703	C	T	18	11751704	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	4.36775662931485E-4	0.042
18	11751704	G	A	18	11751705	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.40940918270023E-4	0.0
18	11751704	G	C	18	11751705	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.08916309252732E-4	0.0
18	11751704	G	T	18	11751705	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.40940918270023E-4	0.0
18	11751705	T	A	18	11751706	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.60138116748033E-4	0.024
18	11751705	T	C	18	11751706	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.61821323901995E-4	0.024
18	11751705	T	G	18	11751706	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.61821323901995E-4	0.024
18	11751706	G	A	18	11751707	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	7.02941432165824E-4	0.004
18	11751706	G	C	18	11751707	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.00110336656407202	0.004
18	11751706	G	T	18	11751707	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.0013078655870363	0.004
18	11751707	T	A	18	11751708	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.00223172515695393	0.004
18	11751707	T	C	18	11751708	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.00127198210562724	0.008
18	11751707	T	G	18	11751708	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.00165839143970926	0.026
18	11751708	A	C	18	11751709	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00199590941298324	0.002
18	11751708	A	G	18	11751709	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00199590941298324	0.002
18	11751708	A	T	18	11751709	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00236544145345248	0.002
18	11751709	A	C	18	11751710	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.09184747739173E-5	0.0
18	11751709	A	G	18	11751710	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.09184747739173E-5	0.0
18	11751709	A	T	18	11751710	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.09184747739173E-5	0.0
18	11751710	G	A	18	11751711	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.12261273777789E-4	0.0
18	11751710	G	C	18	11751711	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.09805911176448E-4	0.0
18	11751710	G	T	18	11751711	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.12261273777789E-4	0.0
18	11751711	C	A	18	11751712	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.48893788513386E-5	0.002
18	11751711	C	G	18	11751712	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.48893788513386E-5	0.002
18	11751711	C	T	18	11751712	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.48893788513386E-5	0.002
18	11751712	G	A	18	11751713	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.54717026264154E-5	0.0
18	11751712	G	C	18	11751713	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.54717026264154E-5	0.0
18	11751712	G	T	18	11751713	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.54717026264154E-5	0.0
18	11751713	C	A	18	11751714	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.06520082605731E-4	0.0
18	11751713	C	G	18	11751714	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.86075475573093E-5	0.004
18	11751713	C	T	18	11751714	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.06520082605731E-4	0.0
18	11752319	C	A	18	11752320	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.78684081159298E-5	0.002
18	11752319	C	G	18	11752320	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.78684081159298E-5	0.004
18	11752319	C	T	18	11752320	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.78684081159298E-5	0.002
18	11752320	T	A	18	11752321	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00177780133235394	0.022
18	11752320	T	C	18	11752321	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00154592920084238	0.022
18	11752320	T	G	18	11752321	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00154592920084238	0.022
18	11752321	C	A	18	11752322	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	8.02297266011095E-5	0.158
18	11752321	C	G	18	11752322	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.07283527149919E-4	0.182
18	11752321	C	T	18	11752322	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	8.02297266011095E-5	0.072
18	11752322	T	A	18	11752323	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.87272745333622E-4	0.0
18	11752322	T	C	18	11752323	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.87272745333622E-4	0.0
18	11752322	T	G	18	11752323	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.87272745333622E-4	0.0
18	11752323	T	A	18	11752324	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	9.6878611010975E-4	0.07
18	11752323	T	C	18	11752324	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	9.6878611010975E-4	0.074
18	11752323	T	G	18	11752324	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	9.6878611010975E-4	0.074
18	11752324	T	A	18	11752325	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	4.76705376348799E-4	0.024
18	11752324	T	C	18	11752325	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.62327869165243E-4	0.032
18	11752324	T	G	18	11752325	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.62327869165243E-4	0.028
18	11752325	C	A	18	11752326	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00186970694930873	0.02
18	11752325	C	G	18	11752326	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00186970694930873	0.02
18	11752325	C	T	18	11752326	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00186970694930873	0.018
18	11752326	A	C	18	11752327	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	8.24824353344448E-5	0.002
18	11752326	A	G	18	11752327	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	8.24824353344448E-5	0.002
18	11752326	A	T	18	11752327	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	3.76020749564062E-5	0.002
18	11752327	G	A	18	11752328	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	3.08739841361144E-4	0.004
18	11752327	G	C	18	11752328	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	3.08739841361144E-4	0.006
18	11752327	G	T	18	11752328	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	3.08739841361144E-4	0.006
18	11752328	C	A	18	11752329	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.78684081159298E-5	0.002
18	11752328	C	G	18	11752329	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.78684081159298E-5	0.002
18	11752328	C	T	18	11752329	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.78684081159298E-5	0.002
18	11752329	A	C	18	11752330	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.00149476155890927	0.032
18	11752329	A	G	18	11752330	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	0.00149476155890927	0.032
18	11752329	A	T	18	11752330	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	8.33829447660801E-4	0.034
18	11752330	G	A	18	11752331	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	3.73406751144135E-5	0.002
18	11752330	G	C	18	11752331	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	3.73406751144135E-5	0.018
18	11752330	G	T	18	11752331	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	3.73406751144135E-5	0.002
18	11752331	C	A	18	11752332	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.14850402615726E-5	0.008
18	11752331	C	G	18	11752332	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.59034071532942E-5	0.004
18	11752331	C	T	18	11752332	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.14850402615726E-5	0.006
18	11752332	A	C	18	11752333	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.2709332397549E-4	0.0
18	11752332	A	G	18	11752333	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.2709332397549E-4	0.0
18	11752332	A	T	18	11752333	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.2709332397549E-4	0.0
18	11752575	T	A	18	11752576	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_001261443:exon2:c.T143A:p.L48Q;GNAL:NM_001142339:exon2:c.T143A:p.L48Q;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.T143A:p.L48Q;ENSG00000141404:ENST00000535121:exon2:c.T143A:p.L48Q;ENSG00000141404:ENST00000269162:exon2:c.T143A:p.L48Q;	0.794565790381763	0.754
18	11752575	T	C	18	11752576	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_001261443:exon2:c.T143C:p.L48P;GNAL:NM_001142339:exon2:c.T143C:p.L48P;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.T143C:p.L48P;ENSG00000141404:ENST00000535121:exon2:c.T143C:p.L48P;ENSG00000141404:ENST00000269162:exon2:c.T143C:p.L48P;	0.794565790381763	0.76
18	11752575	T	G	18	11752576	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_001261443:exon2:c.T143G:p.L48R;GNAL:NM_001142339:exon2:c.T143G:p.L48R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.T143G:p.L48R;ENSG00000141404:ENST00000535121:exon2:c.T143G:p.L48R;ENSG00000141404:ENST00000269162:exon2:c.T143G:p.L48R;	0.794565790381763	0.758
18	11752576	G	A	18	11752577	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_001261443:exon2:c.G144A:p.L48L;GNAL:NM_001142339:exon2:c.G144A:p.L48L;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.G144A:p.L48L;ENSG00000141404:ENST00000535121:exon2:c.G144A:p.L48L;ENSG00000141404:ENST00000269162:exon2:c.G144A:p.L48L;	0.974889029740125	0.756
18	11752576	G	C	18	11752577	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_001261443:exon2:c.G144C:p.L48L;GNAL:NM_001142339:exon2:c.G144C:p.L48L;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.G144C:p.L48L;ENSG00000141404:ENST00000535121:exon2:c.G144C:p.L48L;ENSG00000141404:ENST00000269162:exon2:c.G144C:p.L48L;	0.96732659584855	0.726
18	11752576	G	T	18	11752577	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_001261443:exon2:c.G144T:p.L48L;GNAL:NM_001142339:exon2:c.G144T:p.L48L;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.G144T:p.L48L;ENSG00000141404:ENST00000535121:exon2:c.G144T:p.L48L;ENSG00000141404:ENST00000269162:exon2:c.G144T:p.L48L;	0.970634135292373	0.746
18	11752577	G	A	18	11752578	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_001261443:exon2:c.G145A:p.G49R;GNAL:NM_001142339:exon2:c.G145A:p.G49R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.G145A:p.G49R;ENSG00000141404:ENST00000535121:exon2:c.G145A:p.G49R;ENSG00000141404:ENST00000269162:exon2:c.G145A:p.G49R;	0.983874180615542	0.83
18	11752577	G	C	18	11752578	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_001261443:exon2:c.G145C:p.G49R;GNAL:NM_001142339:exon2:c.G145C:p.G49R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.G145C:p.G49R;ENSG00000141404:ENST00000535121:exon2:c.G145C:p.G49R;ENSG00000141404:ENST00000269162:exon2:c.G145C:p.G49R;	0.983874180615542	0.818
18	11752577	G	T	18	11752578	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_001261443:exon2:c.G145T:p.G49W;GNAL:NM_001142339:exon2:c.G145T:p.G49W;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon1:c.G145T:p.G49W;ENSG00000141404:ENST00000535121:exon2:c.G145T:p.G49W;ENSG00000141404:ENST00000269162:exon2:c.G145T:p.G49W;	0.977377642752555	0.784
18	11752578	G	A	18	11752579	y	y	splicing	GNAL(NM_001142339:exon2:c.145+1G>A;NM_001261443:exon2:c.145+1G>A)	.	.	splicing	ENSG00000141404(ENST00000535121:exon2:c.145+1G>A;ENST00000269162:exon2:c.145+1G>A;ENST00000423027:exon1:c.145+1G>A)	.	.	0.977377642752555	0.79
18	11752578	G	C	18	11752579	y	y	splicing	GNAL(NM_001142339:exon2:c.145+1G>C;NM_001261443:exon2:c.145+1G>C)	.	.	splicing	ENSG00000141404(ENST00000535121:exon2:c.145+1G>C;ENST00000269162:exon2:c.145+1G>C;ENST00000423027:exon1:c.145+1G>C)	.	.	0.977377642752555	0.79
18	11752578	G	T	18	11752579	y	y	splicing	GNAL(NM_001142339:exon2:c.145+1G>T;NM_001261443:exon2:c.145+1G>T)	.	.	splicing	ENSG00000141404(ENST00000535121:exon2:c.145+1G>T;ENST00000269162:exon2:c.145+1G>T;ENST00000423027:exon1:c.145+1G>T)	.	.	0.977377642752555	0.79
18	11752579	T	A	18	11752580	y	y	splicing	GNAL(NM_001142339:exon2:c.145+2T>A;NM_001261443:exon2:c.145+2T>A)	.	.	splicing	ENSG00000141404(ENST00000535121:exon2:c.145+2T>A;ENST00000269162:exon2:c.145+2T>A;ENST00000423027:exon1:c.145+2T>A)	.	.	0.794565790381763	0.766
18	11752579	T	C	18	11752580	y	y	splicing	GNAL(NM_001142339:exon2:c.145+2T>C;NM_001261443:exon2:c.145+2T>C)	.	.	splicing	ENSG00000141404(ENST00000535121:exon2:c.145+2T>C;ENST00000269162:exon2:c.145+2T>C;ENST00000423027:exon1:c.145+2T>C)	.	.	0.760533041481639	0.76
18	11752579	T	G	18	11752580	y	y	splicing	GNAL(NM_001142339:exon2:c.145+2T>G;NM_001261443:exon2:c.145+2T>G)	.	.	splicing	ENSG00000141404(ENST00000535121:exon2:c.145+2T>G;ENST00000269162:exon2:c.145+2T>G;ENST00000423027:exon1:c.145+2T>G)	.	.	0.760533041481639	0.76
18	11752580	A	C	18	11752581	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.719516589105947	0.712
18	11752580	A	G	18	11752581	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.69676140384942	0.7
18	11752580	A	T	18	11752581	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.75081565026199	0.724
18	11752581	A	C	18	11752582	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.625589035207985	0.698
18	11752581	A	G	18	11752582	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.625589035207985	0.698
18	11752581	A	T	18	11752582	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.719516589105947	0.712
18	11752582	G	A	18	11752583	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.905150791289245	0.666
18	11752582	G	C	18	11752583	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.764076917701994	0.544
18	11752582	G	T	18	11752583	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.881437486401352	0.634
18	11752583	G	A	18	11752584	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.41972496645175E-4	0.038
18	11752583	G	C	18	11752584	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.30269939539877E-4	0.042
18	11752583	G	T	18	11752584	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.85907697450675E-4	0.04
18	11752584	C	A	18	11752585	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.98074210530117E-4	0.008
18	11752584	C	G	18	11752585	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.31043779912406E-4	0.004
18	11752584	C	T	18	11752585	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.98074210530117E-4	0.006
18	11752585	C	A	18	11752586	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.51591174045998E-4	0.006
18	11752585	C	G	18	11752586	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.51591174045998E-4	0.008
18	11752585	C	T	18	11752586	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.51591174045998E-4	0.072
18	11752840	G	A	18	11752841	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.6910342854792E-4	0.016
18	11752840	G	C	18	11752841	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.11547204278148E-4	0.006
18	11752840	G	T	18	11752841	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.04312088832782E-4	0.006
18	11752841	T	A	18	11752842	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.86645722649523	0.63
18	11752841	T	C	18	11752842	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0165398069925897	0.142
18	11752841	T	G	18	11752842	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.801032192728742	0.588
18	11752842	T	A	18	11752843	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.271994775952318	0.45
18	11752842	T	C	18	11752843	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.68110744023934E-4	0.016
18	11752842	T	G	18	11752843	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.032621893508789	0.35
18	11752843	T	A	18	11752844	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.999594110587493	0.932
18	11752843	T	C	18	11752844	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	4.99867986008159E-4	0.006
18	11752843	T	G	18	11752844	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0706899260388513	0.338
18	11752844	G	A	18	11752845	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.44037453916623E-4	0.01
18	11752844	G	C	18	11752845	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	5.70300256366951E-5	0.002
18	11752844	G	T	18	11752845	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	4.57775339446837E-5	0.0
18	11752845	T	A	18	11752846	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0315518557914725	0.166
18	11752845	T	C	18	11752846	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.51799041290001E-4	0.002
18	11752845	T	G	18	11752846	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00743253689153143	0.106
18	11752846	T	A	18	11752847	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.10238109334002	0.446
18	11752846	T	C	18	11752847	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	3.3658646041117E-4	0.006
18	11752846	T	G	18	11752847	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.185318740247893	0.426
18	11752847	T	A	18	11752848	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.998573907151171	0.794
18	11752847	T	C	18	11752848	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	4.39831531209908E-4	0.042
18	11752847	T	G	18	11752848	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.765010661625191	0.518
18	11752848	G	A	18	11752849	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.24736275814315E-4	0.002
18	11752848	G	C	18	11752849	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.03589097729416E-4	0.002
18	11752848	G	T	18	11752849	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	5.8549605443288E-5	0.014
18	11752849	C	A	18	11752850	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.305336285419455	0.33
18	11752849	C	G	18	11752850	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.989064565786578	0.674
18	11752849	C	T	18	11752850	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00117583987563673	0.06
18	11752850	A	C	18	11752851	y	y	splicing	GNAL(NM_182978:exon2:c.377-2A>C;NM_001142339:exon3:c.146-2A>C;NM_001261443:exon3:c.146-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.377-2A>C;ENST00000535121:exon3:c.146-2A>C;ENST00000269162:exon3:c.146-2A>C;ENST00000423027:exon2:c.146-2A>C)	.	.	0.999993519952936	0.928
18	11752850	A	G	18	11752851	y	y	splicing	GNAL(NM_182978:exon2:c.377-2A>G;NM_001142339:exon3:c.146-2A>G;NM_001261443:exon3:c.146-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.377-2A>G;ENST00000535121:exon3:c.146-2A>G;ENST00000269162:exon3:c.146-2A>G;ENST00000423027:exon2:c.146-2A>G)	.	.	0.999993519952936	0.928
18	11752850	A	T	18	11752851	y	y	splicing	GNAL(NM_182978:exon2:c.377-2A>T;NM_001142339:exon3:c.146-2A>T;NM_001261443:exon3:c.146-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.377-2A>T;ENST00000535121:exon3:c.146-2A>T;ENST00000269162:exon3:c.146-2A>T;ENST00000423027:exon2:c.146-2A>T)	.	.	0.999993519952936	0.928
18	11752851	G	A	18	11752852	y	y	splicing	GNAL(NM_182978:exon2:c.377-1G>A;NM_001142339:exon3:c.146-1G>A;NM_001261443:exon3:c.146-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.377-1G>A;ENST00000535121:exon3:c.146-1G>A;ENST00000269162:exon3:c.146-1G>A;ENST00000423027:exon2:c.146-1G>A)	.	.	0.999988247793601	0.926
18	11752851	G	C	18	11752852	y	y	splicing	GNAL(NM_182978:exon2:c.377-1G>C;NM_001142339:exon3:c.146-1G>C;NM_001261443:exon3:c.146-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.377-1G>C;ENST00000535121:exon3:c.146-1G>C;ENST00000269162:exon3:c.146-1G>C;ENST00000423027:exon2:c.146-1G>C)	.	.	0.999988247793601	0.926
18	11752851	G	T	18	11752852	y	y	splicing	GNAL(NM_182978:exon2:c.377-1G>T;NM_001142339:exon3:c.146-1G>T;NM_001261443:exon3:c.146-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.377-1G>T;ENST00000535121:exon3:c.146-1G>T;ENST00000269162:exon3:c.146-1G>T;ENST00000423027:exon2:c.146-1G>T)	.	.	0.999988247793601	0.926
18	11752852	G	A	18	11752853	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon2:c.G377A:p.G126E;GNAL:NM_001261443:exon3:c.G146A:p.G49E;GNAL:NM_001142339:exon3:c.G146A:p.G49E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.G146A:p.G49E;ENSG00000141404:ENST00000535121:exon3:c.G146A:p.G49E;ENSG00000141404:ENST00000334049:exon2:c.G377A:p.G126E;ENSG00000141404:ENST00000269162:exon3:c.G146A:p.G49E;	0.99498855417784	0.738
18	11752852	G	C	18	11752853	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon2:c.G377C:p.G126A;GNAL:NM_001261443:exon3:c.G146C:p.G49A;GNAL:NM_001142339:exon3:c.G146C:p.G49A;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.G146C:p.G49A;ENSG00000141404:ENST00000535121:exon3:c.G146C:p.G49A;ENSG00000141404:ENST00000334049:exon2:c.G377C:p.G126A;ENSG00000141404:ENST00000269162:exon3:c.G146C:p.G49A;	0.997569564931443	0.82
18	11752852	G	T	18	11752853	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon2:c.G377T:p.G126V;GNAL:NM_001261443:exon3:c.G146T:p.G49V;GNAL:NM_001142339:exon3:c.G146T:p.G49V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.G146T:p.G49V;ENSG00000141404:ENST00000535121:exon3:c.G146T:p.G49V;ENSG00000141404:ENST00000334049:exon2:c.G377T:p.G126V;ENSG00000141404:ENST00000269162:exon3:c.G146T:p.G49V;	0.999679911136145	0.904
18	11752853	G	A	18	11752854	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon2:c.G378A:p.G126G;GNAL:NM_001261443:exon3:c.G147A:p.G49G;GNAL:NM_001142339:exon3:c.G147A:p.G49G;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.G147A:p.G49G;ENSG00000141404:ENST00000535121:exon3:c.G147A:p.G49G;ENSG00000141404:ENST00000334049:exon2:c.G378A:p.G126G;ENSG00000141404:ENST00000269162:exon3:c.G147A:p.G49G;	5.75064263676996E-4	0.03
18	11752853	G	C	18	11752854	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon2:c.G378C:p.G126G;GNAL:NM_001261443:exon3:c.G147C:p.G49G;GNAL:NM_001142339:exon3:c.G147C:p.G49G;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.G147C:p.G49G;ENSG00000141404:ENST00000535121:exon3:c.G147C:p.G49G;ENSG00000141404:ENST00000334049:exon2:c.G378C:p.G126G;ENSG00000141404:ENST00000269162:exon3:c.G147C:p.G49G;	2.72377063027357E-4	0.006
18	11752853	G	T	18	11752854	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon2:c.G378T:p.G126G;GNAL:NM_001261443:exon3:c.G147T:p.G49G;GNAL:NM_001142339:exon3:c.G147T:p.G49G;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.G147T:p.G49G;ENSG00000141404:ENST00000535121:exon3:c.G147T:p.G49G;ENSG00000141404:ENST00000334049:exon2:c.G378T:p.G126G;ENSG00000141404:ENST00000269162:exon3:c.G147T:p.G49G;	1.42441127058497E-4	0.004
18	11752922	C	A	18	11752923	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon2:c.C447A:p.P149P;GNAL:NM_001261443:exon3:c.C216A:p.P72P;GNAL:NM_001142339:exon3:c.C216A:p.P72P;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.C216A:p.P72P;ENSG00000141404:ENST00000535121:exon3:c.C216A:p.P72P;ENSG00000141404:ENST00000334049:exon2:c.C447A:p.P149P;ENSG00000141404:ENST00000585642:exon1:c.C33A:p.P11P;ENSG00000141404:ENST00000269162:exon3:c.C216A:p.P72P;	5.87552110511084E-4	0.18
18	11752922	C	G	18	11752923	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon2:c.C447G:p.P149P;GNAL:NM_001261443:exon3:c.C216G:p.P72P;GNAL:NM_001142339:exon3:c.C216G:p.P72P;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.C216G:p.P72P;ENSG00000141404:ENST00000535121:exon3:c.C216G:p.P72P;ENSG00000141404:ENST00000334049:exon2:c.C447G:p.P149P;ENSG00000141404:ENST00000585642:exon1:c.C33G:p.P11P;ENSG00000141404:ENST00000269162:exon3:c.C216G:p.P72P;	0.00418453738786733	0.124
18	11752922	C	T	18	11752923	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon2:c.C447T:p.P149P;GNAL:NM_001261443:exon3:c.C216T:p.P72P;GNAL:NM_001142339:exon3:c.C216T:p.P72P;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.C216T:p.P72P;ENSG00000141404:ENST00000535121:exon3:c.C216T:p.P72P;ENSG00000141404:ENST00000334049:exon2:c.C447T:p.P149P;ENSG00000141404:ENST00000585642:exon1:c.C33T:p.P11P;ENSG00000141404:ENST00000269162:exon3:c.C216T:p.P72P;	0.0144116549992307	0.158
18	11752923	G	A	18	11752924	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon2:c.G448A:p.E150K;GNAL:NM_001261443:exon3:c.G217A:p.E73K;GNAL:NM_001142339:exon3:c.G217A:p.E73K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.G217A:p.E73K;ENSG00000141404:ENST00000535121:exon3:c.G217A:p.E73K;ENSG00000141404:ENST00000334049:exon2:c.G448A:p.E150K;ENSG00000141404:ENST00000585642:exon1:c.G34A:p.E12K;ENSG00000141404:ENST00000269162:exon3:c.G217A:p.E73K;	0.945503221174692	0.642
18	11752923	G	C	18	11752924	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon2:c.G448C:p.E150Q;GNAL:NM_001261443:exon3:c.G217C:p.E73Q;GNAL:NM_001142339:exon3:c.G217C:p.E73Q;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.G217C:p.E73Q;ENSG00000141404:ENST00000535121:exon3:c.G217C:p.E73Q;ENSG00000141404:ENST00000334049:exon2:c.G448C:p.E150Q;ENSG00000141404:ENST00000585642:exon1:c.G34C:p.E12Q;ENSG00000141404:ENST00000269162:exon3:c.G217C:p.E73Q;	0.989783601958978	0.858
18	11752923	G	T	18	11752924	y	y	exonic	GNAL	stopgain SNV	GNAL:NM_182978:exon2:c.G448T:p.E150X;GNAL:NM_001261443:exon3:c.G217T:p.E73X;GNAL:NM_001142339:exon3:c.G217T:p.E73X;	exonic	ENSG00000141404	stopgain SNV	ENSG00000141404:ENST00000423027:exon2:c.G217T:p.E73X;ENSG00000141404:ENST00000535121:exon3:c.G217T:p.E73X;ENSG00000141404:ENST00000334049:exon2:c.G448T:p.E150X;ENSG00000141404:ENST00000585642:exon1:c.G34T:p.E12X;ENSG00000141404:ENST00000269162:exon3:c.G217T:p.E73X;	0.997801106143406	0.86
18	11752924	A	C	18	11752925	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon2:c.A449C:p.E150A;GNAL:NM_001261443:exon3:c.A218C:p.E73A;GNAL:NM_001142339:exon3:c.A218C:p.E73A;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.A218C:p.E73A;ENSG00000141404:ENST00000535121:exon3:c.A218C:p.E73A;ENSG00000141404:ENST00000334049:exon2:c.A449C:p.E150A;ENSG00000141404:ENST00000585642:exon1:c.A35C:p.E12A;ENSG00000141404:ENST00000269162:exon3:c.A218C:p.E73A;	0.694820655830678	0.73
18	11752924	A	G	18	11752925	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon2:c.A449G:p.E150G;GNAL:NM_001261443:exon3:c.A218G:p.E73G;GNAL:NM_001142339:exon3:c.A218G:p.E73G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.A218G:p.E73G;ENSG00000141404:ENST00000535121:exon3:c.A218G:p.E73G;ENSG00000141404:ENST00000334049:exon2:c.A449G:p.E150G;ENSG00000141404:ENST00000585642:exon1:c.A35G:p.E12G;ENSG00000141404:ENST00000269162:exon3:c.A218G:p.E73G;	0.44209415197805	0.304
18	11752924	A	T	18	11752925	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon2:c.A449T:p.E150V;GNAL:NM_001261443:exon3:c.A218T:p.E73V;GNAL:NM_001142339:exon3:c.A218T:p.E73V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon2:c.A218T:p.E73V;ENSG00000141404:ENST00000535121:exon3:c.A218T:p.E73V;ENSG00000141404:ENST00000334049:exon2:c.A449T:p.E150V;ENSG00000141404:ENST00000585642:exon1:c.A35T:p.E12V;ENSG00000141404:ENST00000269162:exon3:c.A218T:p.E73V;	0.714429955342242	0.572
18	11752925	G	A	18	11752926	y	y	splicing	GNAL(NM_182978:exon2:c.449+1G>A;NM_001142339:exon3:c.218+1G>A;NM_001261443:exon3:c.218+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.449+1G>A;ENST00000535121:exon3:c.218+1G>A;ENST00000269162:exon3:c.218+1G>A;ENST00000423027:exon2:c.218+1G>A;ENST00000585642:exon1:c.35+1G>A)	.	.	0.999986675681007	0.932
18	11752925	G	C	18	11752926	y	y	splicing	GNAL(NM_182978:exon2:c.449+1G>C;NM_001142339:exon3:c.218+1G>C;NM_001261443:exon3:c.218+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.449+1G>C;ENST00000535121:exon3:c.218+1G>C;ENST00000269162:exon3:c.218+1G>C;ENST00000423027:exon2:c.218+1G>C;ENST00000585642:exon1:c.35+1G>C)	.	.	0.999986675681007	0.932
18	11752925	G	T	18	11752926	y	y	splicing	GNAL(NM_182978:exon2:c.449+1G>T;NM_001142339:exon3:c.218+1G>T;NM_001261443:exon3:c.218+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.449+1G>T;ENST00000535121:exon3:c.218+1G>T;ENST00000269162:exon3:c.218+1G>T;ENST00000423027:exon2:c.218+1G>T;ENST00000585642:exon1:c.35+1G>T)	.	.	0.999986675681007	0.932
18	11752926	T	A	18	11752927	y	y	splicing	GNAL(NM_182978:exon2:c.449+2T>A;NM_001142339:exon3:c.218+2T>A;NM_001261443:exon3:c.218+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.449+2T>A;ENST00000535121:exon3:c.218+2T>A;ENST00000269162:exon3:c.218+2T>A;ENST00000423027:exon2:c.218+2T>A;ENST00000585642:exon1:c.35+2T>A)	.	.	0.999988247793601	0.928
18	11752926	T	C	18	11752927	y	y	splicing	GNAL(NM_182978:exon2:c.449+2T>C;NM_001142339:exon3:c.218+2T>C;NM_001261443:exon3:c.218+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.449+2T>C;ENST00000535121:exon3:c.218+2T>C;ENST00000269162:exon3:c.218+2T>C;ENST00000423027:exon2:c.218+2T>C;ENST00000585642:exon1:c.35+2T>C)	.	.	0.999897703382408	0.874
18	11752926	T	G	18	11752927	y	y	splicing	GNAL(NM_182978:exon2:c.449+2T>G;NM_001142339:exon3:c.218+2T>G;NM_001261443:exon3:c.218+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon2:c.449+2T>G;ENST00000535121:exon3:c.218+2T>G;ENST00000269162:exon3:c.218+2T>G;ENST00000423027:exon2:c.218+2T>G;ENST00000585642:exon1:c.35+2T>G)	.	.	0.999988247793601	0.928
18	11752927	A	C	18	11752928	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.99957405523524	0.968
18	11752927	A	G	18	11752928	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.990081792370932	0.762
18	11752927	A	T	18	11752928	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.99957405523524	0.968
18	11752928	A	C	18	11752929	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999501029067539	0.93
18	11752928	A	G	18	11752929	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.998936921567	0.952
18	11752928	A	T	18	11752929	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999063366117126	0.894
18	11752929	G	A	18	11752930	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.99996671176368	0.996
18	11752929	G	C	18	11752930	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999968543938335	0.994
18	11752929	G	T	18	11752930	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999956153405628	0.974
18	11752930	A	C	18	11752931	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00149533168741639	0.13
18	11752930	A	G	18	11752931	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.89383825009829E-5	0.042
18	11752930	A	T	18	11752931	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.22803316890144E-5	0.094
18	11752931	A	C	18	11752932	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.353257080278181	0.512
18	11752931	A	G	18	11752932	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.194390438295538	0.484
18	11752931	A	T	18	11752932	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.635567707580379	0.424
18	11752932	T	A	18	11752933	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.74686640073869E-4	0.036
18	11752932	T	C	18	11752933	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.23377063303846E-4	0.014
18	11752932	T	G	18	11752933	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.04983044008692E-4	0.01
18	11753615	C	A	18	11753616	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0739094585615123	0.28
18	11753615	C	G	18	11753616	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0124350605183505	0.178
18	11753615	C	T	18	11753616	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.11157335955198E-4	0.05
18	11753616	T	A	18	11753617	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.971620774415061	0.614
18	11753616	T	C	18	11753617	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.0056150830708599	0.26
18	11753616	T	G	18	11753617	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.970658452235501	0.576
18	11753617	T	A	18	11753618	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.969942752236985	0.732
18	11753617	T	C	18	11753618	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	8.30398645647929E-4	0.044
18	11753617	T	G	18	11753618	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.987591647260532	0.808
18	11753618	T	A	18	11753619	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.764512114717455	0.514
18	11753618	T	C	18	11753619	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.53577873485665E-5	0.018
18	11753618	T	G	18	11753619	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.594432717520439	0.512
18	11753619	C	A	18	11753620	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00345601361141672	0.074
18	11753619	C	G	18	11753620	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00169358086216665	0.056
18	11753619	C	T	18	11753620	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.28285929785041E-4	0.002
18	11753620	A	C	18	11753621	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.98637642079139E-5	0.0
18	11753620	A	G	18	11753621	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.64640818996039E-5	0.0
18	11753620	A	T	18	11753621	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.16756479989518E-5	0.0
18	11753621	A	C	18	11753622	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00177167528348284	0.02
18	11753621	A	G	18	11753622	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.996584096884839	0.844
18	11753621	A	T	18	11753622	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00204143266661904	0.02
18	11753622	T	A	18	11753623	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.109190286012235	0.382
18	11753622	T	C	18	11753623	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	3.55357913020278E-4	0.15
18	11753622	T	G	18	11753623	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.999870336918525	0.876
18	11753623	A	C	18	11753624	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.3453405459755E-4	0.054
18	11753623	A	G	18	11753624	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	2.9417085388024E-4	0.098
18	11753623	A	T	18	11753624	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	8.57692662073776E-5	0.02
18	11753624	C	A	18	11753625	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.895777479095815	0.612
18	11753624	C	G	18	11753625	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.998774277912916	0.952
18	11753624	C	T	18	11753625	y	y	intronic	GNAL	.	.	UTR5	ENSG00000141404	.	.	0.00104919466409453	0.05
18	11753625	A	C	18	11753626	y	y	splicing	GNAL(NM_182978:exon3:c.450-2A>C;NM_001142339:exon4:c.219-2A>C;NM_001261443:exon4:c.219-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.450-2A>C;ENST00000535121:exon4:c.219-2A>C;ENST00000269162:exon4:c.219-2A>C;ENST00000423027:exon3:c.219-2A>C;ENST00000585642:exon2:c.36-2A>C)	.	.	0.999988247793601	0.928
18	11753625	A	G	18	11753626	y	y	splicing	GNAL(NM_182978:exon3:c.450-2A>G;NM_001142339:exon4:c.219-2A>G;NM_001261443:exon4:c.219-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.450-2A>G;ENST00000535121:exon4:c.219-2A>G;ENST00000269162:exon4:c.219-2A>G;ENST00000423027:exon3:c.219-2A>G;ENST00000585642:exon2:c.36-2A>G)	.	.	0.999988247793601	0.928
18	11753625	A	T	18	11753626	y	y	splicing	GNAL(NM_182978:exon3:c.450-2A>T;NM_001142339:exon4:c.219-2A>T;NM_001261443:exon4:c.219-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.450-2A>T;ENST00000535121:exon4:c.219-2A>T;ENST00000269162:exon4:c.219-2A>T;ENST00000423027:exon3:c.219-2A>T;ENST00000585642:exon2:c.36-2A>T)	.	.	0.999988247793601	0.928
18	11753626	G	A	18	11753627	y	y	splicing	GNAL(NM_182978:exon3:c.450-1G>A;NM_001142339:exon4:c.219-1G>A;NM_001261443:exon4:c.219-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.450-1G>A;ENST00000535121:exon4:c.219-1G>A;ENST00000269162:exon4:c.219-1G>A;ENST00000423027:exon3:c.219-1G>A;ENST00000585642:exon2:c.36-1G>A)	.	.	0.999986675681007	0.934
18	11753626	G	C	18	11753627	y	y	splicing	GNAL(NM_182978:exon3:c.450-1G>C;NM_001142339:exon4:c.219-1G>C;NM_001261443:exon4:c.219-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.450-1G>C;ENST00000535121:exon4:c.219-1G>C;ENST00000269162:exon4:c.219-1G>C;ENST00000423027:exon3:c.219-1G>C;ENST00000585642:exon2:c.36-1G>C)	.	.	0.999986675681007	0.934
18	11753626	G	T	18	11753627	y	y	splicing	GNAL(NM_182978:exon3:c.450-1G>T;NM_001142339:exon4:c.219-1G>T;NM_001261443:exon4:c.219-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.450-1G>T;ENST00000535121:exon4:c.219-1G>T;ENST00000269162:exon4:c.219-1G>T;ENST00000423027:exon3:c.219-1G>T;ENST00000585642:exon2:c.36-1G>T)	.	.	0.999986675681007	0.934
18	11753627	G	A	18	11753628	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon3:c.G450A:p.E150E;GNAL:NM_001261443:exon4:c.G219A:p.E73E;GNAL:NM_001142339:exon4:c.G219A:p.E73E;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G219A:p.E73E;ENSG00000141404:ENST00000535121:exon4:c.G219A:p.E73E;ENSG00000141404:ENST00000334049:exon3:c.G450A:p.E150E;ENSG00000141404:ENST00000585642:exon2:c.G36A:p.E12E;ENSG00000141404:ENST00000269162:exon4:c.G219A:p.E73E;	0.064983308550556	0.338
18	11753627	G	C	18	11753628	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.G450C:p.E150D;GNAL:NM_001261443:exon4:c.G219C:p.E73D;GNAL:NM_001142339:exon4:c.G219C:p.E73D;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G219C:p.E73D;ENSG00000141404:ENST00000535121:exon4:c.G219C:p.E73D;ENSG00000141404:ENST00000334049:exon3:c.G450C:p.E150D;ENSG00000141404:ENST00000585642:exon2:c.G36C:p.E12D;ENSG00000141404:ENST00000269162:exon4:c.G219C:p.E73D;	0.463144168306294	0.62
18	11753627	G	T	18	11753628	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.G450T:p.E150D;GNAL:NM_001261443:exon4:c.G219T:p.E73D;GNAL:NM_001142339:exon4:c.G219T:p.E73D;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G219T:p.E73D;ENSG00000141404:ENST00000535121:exon4:c.G219T:p.E73D;ENSG00000141404:ENST00000334049:exon3:c.G450T:p.E150D;ENSG00000141404:ENST00000585642:exon2:c.G36T:p.E12D;ENSG00000141404:ENST00000269162:exon4:c.G219T:p.E73D;	0.974085811486312	0.862
18	11753628	G	A	18	11753629	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.G451A:p.E151K;GNAL:NM_001261443:exon4:c.G220A:p.E74K;GNAL:NM_001142339:exon4:c.G220A:p.E74K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G220A:p.E74K;ENSG00000141404:ENST00000535121:exon4:c.G220A:p.E74K;ENSG00000141404:ENST00000334049:exon3:c.G451A:p.E151K;ENSG00000141404:ENST00000585642:exon2:c.G37A:p.E13K;ENSG00000141404:ENST00000269162:exon4:c.G220A:p.E74K;	0.989520392743534	0.866
18	11753628	G	C	18	11753629	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.G451C:p.E151Q;GNAL:NM_001261443:exon4:c.G220C:p.E74Q;GNAL:NM_001142339:exon4:c.G220C:p.E74Q;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G220C:p.E74Q;ENSG00000141404:ENST00000535121:exon4:c.G220C:p.E74Q;ENSG00000141404:ENST00000334049:exon3:c.G451C:p.E151Q;ENSG00000141404:ENST00000585642:exon2:c.G37C:p.E13Q;ENSG00000141404:ENST00000269162:exon4:c.G220C:p.E74Q;	0.955849236963472	0.886
18	11753628	G	T	18	11753629	y	y	exonic	GNAL	stopgain SNV	GNAL:NM_182978:exon3:c.G451T:p.E151X;GNAL:NM_001261443:exon4:c.G220T:p.E74X;GNAL:NM_001142339:exon4:c.G220T:p.E74X;	exonic	ENSG00000141404	stopgain SNV	ENSG00000141404:ENST00000423027:exon3:c.G220T:p.E74X;ENSG00000141404:ENST00000535121:exon4:c.G220T:p.E74X;ENSG00000141404:ENST00000334049:exon3:c.G451T:p.E151X;ENSG00000141404:ENST00000585642:exon2:c.G37T:p.E13X;ENSG00000141404:ENST00000269162:exon4:c.G220T:p.E74X;	0.98466214167764	0.906
18	11753679	G	A	18	11753680	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.G502A:p.V168M;GNAL:NM_001261443:exon4:c.G271A:p.V91M;GNAL:NM_001142339:exon4:c.G271A:p.V91M;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G271A:p.V91M;ENSG00000141404:ENST00000535121:exon4:c.G271A:p.V91M;ENSG00000141404:ENST00000334049:exon3:c.G502A:p.V168M;ENSG00000141404:ENST00000585642:exon2:c.G88A:p.V30M;ENSG00000141404:ENST00000269162:exon4:c.G271A:p.V91M;	0.231033540982109	0.37
18	11753679	G	C	18	11753680	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.G502C:p.V168L;GNAL:NM_001261443:exon4:c.G271C:p.V91L;GNAL:NM_001142339:exon4:c.G271C:p.V91L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G271C:p.V91L;ENSG00000141404:ENST00000535121:exon4:c.G271C:p.V91L;ENSG00000141404:ENST00000334049:exon3:c.G502C:p.V168L;ENSG00000141404:ENST00000585642:exon2:c.G88C:p.V30L;ENSG00000141404:ENST00000269162:exon4:c.G271C:p.V91L;	0.0010933671651244	0.032
18	11753679	G	T	18	11753680	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.G502T:p.V168L;GNAL:NM_001261443:exon4:c.G271T:p.V91L;GNAL:NM_001142339:exon4:c.G271T:p.V91L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G271T:p.V91L;ENSG00000141404:ENST00000535121:exon4:c.G271T:p.V91L;ENSG00000141404:ENST00000334049:exon3:c.G502T:p.V168L;ENSG00000141404:ENST00000585642:exon2:c.G88T:p.V30L;ENSG00000141404:ENST00000269162:exon4:c.G271T:p.V91L;	0.00365898391468007	0.094
18	11753680	T	A	18	11753681	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.T503A:p.V168E;GNAL:NM_001261443:exon4:c.T272A:p.V91E;GNAL:NM_001142339:exon4:c.T272A:p.V91E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.T272A:p.V91E;ENSG00000141404:ENST00000535121:exon4:c.T272A:p.V91E;ENSG00000141404:ENST00000334049:exon3:c.T503A:p.V168E;ENSG00000141404:ENST00000585642:exon2:c.T89A:p.V30E;ENSG00000141404:ENST00000269162:exon4:c.T272A:p.V91E;	0.00225907619584172	0.106
18	11753680	T	C	18	11753681	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.T503C:p.V168A;GNAL:NM_001261443:exon4:c.T272C:p.V91A;GNAL:NM_001142339:exon4:c.T272C:p.V91A;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.T272C:p.V91A;ENSG00000141404:ENST00000535121:exon4:c.T272C:p.V91A;ENSG00000141404:ENST00000334049:exon3:c.T503C:p.V168A;ENSG00000141404:ENST00000585642:exon2:c.T89C:p.V30A;ENSG00000141404:ENST00000269162:exon4:c.T272C:p.V91A;	0.00401512635438689	0.108
18	11753680	T	G	18	11753681	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon3:c.T503G:p.V168G;GNAL:NM_001261443:exon4:c.T272G:p.V91G;GNAL:NM_001142339:exon4:c.T272G:p.V91G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.T272G:p.V91G;ENSG00000141404:ENST00000535121:exon4:c.T272G:p.V91G;ENSG00000141404:ENST00000334049:exon3:c.T503G:p.V168G;ENSG00000141404:ENST00000585642:exon2:c.T89G:p.V30G;ENSG00000141404:ENST00000269162:exon4:c.T272G:p.V91G;	0.0220498924788692	0.258
18	11753681	G	A	18	11753682	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon3:c.G504A:p.V168V;GNAL:NM_001261443:exon4:c.G273A:p.V91V;GNAL:NM_001142339:exon4:c.G273A:p.V91V;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G273A:p.V91V;ENSG00000141404:ENST00000535121:exon4:c.G273A:p.V91V;ENSG00000141404:ENST00000334049:exon3:c.G504A:p.V168V;ENSG00000141404:ENST00000585642:exon2:c.G90A:p.V30V;ENSG00000141404:ENST00000269162:exon4:c.G273A:p.V91V;	0.999146623889475	0.936
18	11753681	G	C	18	11753682	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon3:c.G504C:p.V168V;GNAL:NM_001261443:exon4:c.G273C:p.V91V;GNAL:NM_001142339:exon4:c.G273C:p.V91V;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G273C:p.V91V;ENSG00000141404:ENST00000535121:exon4:c.G273C:p.V91V;ENSG00000141404:ENST00000334049:exon3:c.G504C:p.V168V;ENSG00000141404:ENST00000585642:exon2:c.G90C:p.V30V;ENSG00000141404:ENST00000269162:exon4:c.G273C:p.V91V;	0.999910411853816	0.84
18	11753681	G	T	18	11753682	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon3:c.G504T:p.V168V;GNAL:NM_001261443:exon4:c.G273T:p.V91V;GNAL:NM_001142339:exon4:c.G273T:p.V91V;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon3:c.G273T:p.V91V;ENSG00000141404:ENST00000535121:exon4:c.G273T:p.V91V;ENSG00000141404:ENST00000334049:exon3:c.G504T:p.V168V;ENSG00000141404:ENST00000585642:exon2:c.G90T:p.V30V;ENSG00000141404:ENST00000269162:exon4:c.G273T:p.V91V;	0.999773230811767	0.88
18	11753682	G	A	18	11753683	y	y	splicing	GNAL(NM_182978:exon3:c.504+1G>A;NM_001142339:exon4:c.273+1G>A;NM_001261443:exon4:c.273+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.504+1G>A;ENST00000535121:exon4:c.273+1G>A;ENST00000269162:exon4:c.273+1G>A;ENST00000423027:exon3:c.273+1G>A;ENST00000585642:exon2:c.90+1G>A)	.	.	0.999980428708689	0.936
18	11753682	G	C	18	11753683	y	y	splicing	GNAL(NM_182978:exon3:c.504+1G>C;NM_001142339:exon4:c.273+1G>C;NM_001261443:exon4:c.273+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.504+1G>C;ENST00000535121:exon4:c.273+1G>C;ENST00000269162:exon4:c.273+1G>C;ENST00000423027:exon3:c.273+1G>C;ENST00000585642:exon2:c.90+1G>C)	.	.	0.999949496871441	0.93
18	11753682	G	T	18	11753683	y	y	splicing	GNAL(NM_182978:exon3:c.504+1G>T;NM_001142339:exon4:c.273+1G>T;NM_001261443:exon4:c.273+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.504+1G>T;ENST00000535121:exon4:c.273+1G>T;ENST00000269162:exon4:c.273+1G>T;ENST00000423027:exon3:c.273+1G>T;ENST00000585642:exon2:c.90+1G>T)	.	.	0.999980428708689	0.93
18	11753683	T	A	18	11753684	y	y	splicing	GNAL(NM_182978:exon3:c.504+2T>A;NM_001142339:exon4:c.273+2T>A;NM_001261443:exon4:c.273+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.504+2T>A;ENST00000535121:exon4:c.273+2T>A;ENST00000269162:exon4:c.273+2T>A;ENST00000423027:exon3:c.273+2T>A;ENST00000585642:exon2:c.90+2T>A)	.	.	0.99994568797423	0.928
18	11753683	T	C	18	11753684	y	y	splicing	GNAL(NM_182978:exon3:c.504+2T>C;NM_001142339:exon4:c.273+2T>C;NM_001261443:exon4:c.273+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.504+2T>C;ENST00000535121:exon4:c.273+2T>C;ENST00000269162:exon4:c.273+2T>C;ENST00000423027:exon3:c.273+2T>C;ENST00000585642:exon2:c.90+2T>C)	.	.	0.999408359588715	0.916
18	11753683	T	G	18	11753684	y	y	splicing	GNAL(NM_182978:exon3:c.504+2T>G;NM_001142339:exon4:c.273+2T>G;NM_001261443:exon4:c.273+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon3:c.504+2T>G;ENST00000535121:exon4:c.273+2T>G;ENST00000269162:exon4:c.273+2T>G;ENST00000423027:exon3:c.273+2T>G;ENST00000585642:exon2:c.90+2T>G)	.	.	0.99994568797423	0.93
18	11753684	A	C	18	11753685	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.997849097831352	0.794
18	11753684	A	G	18	11753685	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0154462816978273	0.26
18	11753684	A	T	18	11753685	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.996031438457917	0.764
18	11753685	A	C	18	11753686	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.767182137525176	0.56
18	11753685	A	G	18	11753686	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.992416673803825	0.738
18	11753685	A	T	18	11753686	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.974508378572208	0.698
18	11753686	G	A	18	11753687	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999762274452604	0.894
18	11753686	G	C	18	11753687	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999978954123672	0.938
18	11753686	G	T	18	11753687	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.99998162892442	0.912
18	11753687	G	A	18	11753688	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.48018725266432E-5	0.0
18	11753687	G	C	18	11753688	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.96533236209333E-5	0.0
18	11753687	G	T	18	11753688	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.00507180511518E-5	0.0
18	11753688	A	C	18	11753689	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.93008933363103E-5	0.0
18	11753688	A	G	18	11753689	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.22697460874762E-5	0.0
18	11753688	A	T	18	11753689	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.68246148945225E-5	0.0
18	11753689	C	A	18	11753690	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.57530626779289E-5	0.0
18	11753689	C	G	18	11753690	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.54138519276573E-5	0.0
18	11753689	C	T	18	11753690	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.54138519276573E-5	0.0
18	11753813	A	C	18	11753814	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.14240746266983E-5	0.006
18	11753813	A	G	18	11753814	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.14608597737826E-5	0.012
18	11753813	A	T	18	11753814	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.12028768931135E-6	0.002
18	11753814	T	A	18	11753815	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.050572611399897	0.28
18	11753814	T	C	18	11753815	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.88453161395967E-4	0.048
18	11753814	T	G	18	11753815	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.976818716055741	0.8
18	11753815	T	A	18	11753816	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00171743969841636	0.114
18	11753815	T	C	18	11753816	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.82125440539761E-5	0.0
18	11753815	T	G	18	11753816	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00679562824876708	0.13
18	11753816	C	A	18	11753817	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.11498467906085E-4	0.04
18	11753816	C	G	18	11753817	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.13640877926823E-5	0.016
18	11753816	C	T	18	11753817	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.37926489840583E-5	0.0
18	11753817	C	A	18	11753818	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.75861826872144E-5	0.008
18	11753817	C	G	18	11753818	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.25156309800404E-5	0.01
18	11753817	C	T	18	11753818	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.64075701944391E-5	0.0
18	11753818	A	C	18	11753819	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.24869843396754E-5	0.008
18	11753818	A	G	18	11753819	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.02084200382743E-5	0.002
18	11753818	A	T	18	11753819	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.92042856338043E-5	0.002
18	11753819	T	A	18	11753820	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0663252561193013	0.284
18	11753819	T	C	18	11753820	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.29704083270782E-5	0.004
18	11753819	T	G	18	11753820	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999663553707068	0.944
18	11753820	T	A	18	11753821	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.55388944049848	0.46
18	11753820	T	C	18	11753821	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00270145085976626	0.08
18	11753820	T	G	18	11753821	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.514593540624723	0.458
18	11753821	T	A	18	11753822	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.61336559085948E-5	0.004
18	11753821	T	C	18	11753822	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.65523565190984E-5	0.002
18	11753821	T	G	18	11753822	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.19199990279044E-5	0.002
18	11753822	T	A	18	11753823	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00667319575763958	0.144
18	11753822	T	C	18	11753823	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.42125328428201E-5	0.0
18	11753822	T	G	18	11753823	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.600897958586269	0.61
18	11753823	A	C	18	11753824	y	y	splicing	GNAL(NM_182978:exon4:c.505-2A>C;NM_001142339:exon5:c.274-2A>C;NM_001261443:exon5:c.274-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.505-2A>C;ENST00000535121:exon5:c.274-2A>C;ENST00000269162:exon5:c.274-2A>C;ENST00000423027:exon4:c.274-2A>C;ENST00000585642:exon3:c.91-2A>C)	.	.	0.999969255906173	0.86
18	11753823	A	G	18	11753824	y	y	splicing	GNAL(NM_182978:exon4:c.505-2A>G;NM_001142339:exon5:c.274-2A>G;NM_001261443:exon5:c.274-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.505-2A>G;ENST00000535121:exon5:c.274-2A>G;ENST00000269162:exon5:c.274-2A>G;ENST00000423027:exon4:c.274-2A>G;ENST00000585642:exon3:c.91-2A>G)	.	.	0.999969255906173	0.852
18	11753823	A	T	18	11753824	y	y	splicing	GNAL(NM_182978:exon4:c.505-2A>T;NM_001142339:exon5:c.274-2A>T;NM_001261443:exon5:c.274-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.505-2A>T;ENST00000535121:exon5:c.274-2A>T;ENST00000269162:exon5:c.274-2A>T;ENST00000423027:exon4:c.274-2A>T;ENST00000585642:exon3:c.91-2A>T)	.	.	0.999972155025474	0.868
18	11753824	G	A	18	11753825	y	y	splicing	GNAL(NM_182978:exon4:c.505-1G>A;NM_001142339:exon5:c.274-1G>A;NM_001261443:exon5:c.274-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.505-1G>A;ENST00000535121:exon5:c.274-1G>A;ENST00000269162:exon5:c.274-1G>A;ENST00000423027:exon4:c.274-1G>A;ENST00000585642:exon3:c.91-1G>A)	.	.	0.99996748057446	0.906
18	11753824	G	C	18	11753825	y	y	splicing	GNAL(NM_182978:exon4:c.505-1G>C;NM_001142339:exon5:c.274-1G>C;NM_001261443:exon5:c.274-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.505-1G>C;ENST00000535121:exon5:c.274-1G>C;ENST00000269162:exon5:c.274-1G>C;ENST00000423027:exon4:c.274-1G>C;ENST00000585642:exon3:c.91-1G>C)	.	.	0.999968430223941	0.874
18	11753824	G	T	18	11753825	y	y	splicing	GNAL(NM_182978:exon4:c.505-1G>T;NM_001142339:exon5:c.274-1G>T;NM_001261443:exon5:c.274-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.505-1G>T;ENST00000535121:exon5:c.274-1G>T;ENST00000269162:exon5:c.274-1G>T;ENST00000423027:exon4:c.274-1G>T;ENST00000585642:exon3:c.91-1G>T)	.	.	0.999969242257053	0.894
18	11753825	A	C	18	11753826	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.A505C:p.T169P;GNAL:NM_001261443:exon5:c.A274C:p.T92P;GNAL:NM_001142339:exon5:c.A274C:p.T92P;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.A274C:p.T92P;ENSG00000141404:ENST00000535121:exon5:c.A274C:p.T92P;ENSG00000141404:ENST00000334049:exon4:c.A505C:p.T169P;ENSG00000141404:ENST00000585642:exon3:c.A91C:p.T31P;ENSG00000141404:ENST00000269162:exon5:c.A274C:p.T92P;	0.143417203149812	0.524
18	11753825	A	G	18	11753826	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.A505G:p.T169A;GNAL:NM_001261443:exon5:c.A274G:p.T92A;GNAL:NM_001142339:exon5:c.A274G:p.T92A;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.A274G:p.T92A;ENSG00000141404:ENST00000535121:exon5:c.A274G:p.T92A;ENSG00000141404:ENST00000334049:exon4:c.A505G:p.T169A;ENSG00000141404:ENST00000585642:exon3:c.A91G:p.T31A;ENSG00000141404:ENST00000269162:exon5:c.A274G:p.T92A;	3.11837874460002E-4	0.014
18	11753825	A	T	18	11753826	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.A505T:p.T169S;GNAL:NM_001261443:exon5:c.A274T:p.T92S;GNAL:NM_001142339:exon5:c.A274T:p.T92S;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.A274T:p.T92S;ENSG00000141404:ENST00000535121:exon5:c.A274T:p.T92S;ENSG00000141404:ENST00000334049:exon4:c.A505T:p.T169S;ENSG00000141404:ENST00000585642:exon3:c.A91T:p.T31S;ENSG00000141404:ENST00000269162:exon5:c.A274T:p.T92S;	0.00566805491064645	0.072
18	11753826	C	A	18	11753827	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.C506A:p.T169K;GNAL:NM_001261443:exon5:c.C275A:p.T92K;GNAL:NM_001142339:exon5:c.C275A:p.T92K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.C275A:p.T92K;ENSG00000141404:ENST00000535121:exon5:c.C275A:p.T92K;ENSG00000141404:ENST00000334049:exon4:c.C506A:p.T169K;ENSG00000141404:ENST00000585642:exon3:c.C92A:p.T31K;ENSG00000141404:ENST00000269162:exon5:c.C275A:p.T92K;	0.0514424355923131	0.176
18	11753826	C	G	18	11753827	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.C506G:p.T169R;GNAL:NM_001261443:exon5:c.C275G:p.T92R;GNAL:NM_001142339:exon5:c.C275G:p.T92R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.C275G:p.T92R;ENSG00000141404:ENST00000535121:exon5:c.C275G:p.T92R;ENSG00000141404:ENST00000334049:exon4:c.C506G:p.T169R;ENSG00000141404:ENST00000585642:exon3:c.C92G:p.T31R;ENSG00000141404:ENST00000269162:exon5:c.C275G:p.T92R;	0.0154726429108616	0.062
18	11753826	C	T	18	11753827	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.C506T:p.T169I;GNAL:NM_001261443:exon5:c.C275T:p.T92I;GNAL:NM_001142339:exon5:c.C275T:p.T92I;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.C275T:p.T92I;ENSG00000141404:ENST00000535121:exon5:c.C275T:p.T92I;ENSG00000141404:ENST00000334049:exon4:c.C506T:p.T169I;ENSG00000141404:ENST00000585642:exon3:c.C92T:p.T31I;ENSG00000141404:ENST00000269162:exon5:c.C275T:p.T92I;	0.0151364600745497	0.088
18	11753942	C	A	18	11753943	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.C622A:p.Q208K;GNAL:NM_001261443:exon5:c.C391A:p.Q131K;GNAL:NM_001142339:exon5:c.C391A:p.Q131K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.C391A:p.Q131K;ENSG00000141404:ENST00000535121:exon5:c.C391A:p.Q131K;ENSG00000141404:ENST00000590228:exon2:c.C103A:p.Q35K;ENSG00000141404:ENST00000334049:exon4:c.C622A:p.Q208K;ENSG00000141404:ENST00000585642:exon3:c.C208A:p.Q70K;ENSG00000141404:ENST00000269162:exon5:c.C391A:p.Q131K;	0.0515799749452413	0.21
18	11753942	C	G	18	11753943	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.C622G:p.Q208E;GNAL:NM_001261443:exon5:c.C391G:p.Q131E;GNAL:NM_001142339:exon5:c.C391G:p.Q131E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.C391G:p.Q131E;ENSG00000141404:ENST00000535121:exon5:c.C391G:p.Q131E;ENSG00000141404:ENST00000590228:exon2:c.C103G:p.Q35E;ENSG00000141404:ENST00000334049:exon4:c.C622G:p.Q208E;ENSG00000141404:ENST00000585642:exon3:c.C208G:p.Q70E;ENSG00000141404:ENST00000269162:exon5:c.C391G:p.Q131E;	0.0025538897573819	0.09
18	11753942	C	T	18	11753943	y	y	exonic	GNAL	stopgain SNV	GNAL:NM_182978:exon4:c.C622T:p.Q208X;GNAL:NM_001261443:exon5:c.C391T:p.Q131X;GNAL:NM_001142339:exon5:c.C391T:p.Q131X;	exonic	ENSG00000141404	stopgain SNV	ENSG00000141404:ENST00000423027:exon4:c.C391T:p.Q131X;ENSG00000141404:ENST00000535121:exon5:c.C391T:p.Q131X;ENSG00000141404:ENST00000590228:exon2:c.C103T:p.Q35X;ENSG00000141404:ENST00000334049:exon4:c.C622T:p.Q208X;ENSG00000141404:ENST00000585642:exon3:c.C208T:p.Q70X;ENSG00000141404:ENST00000269162:exon5:c.C391T:p.Q131X;	0.681667422649674	0.504
18	11753943	A	C	18	11753944	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.A623C:p.Q208P;GNAL:NM_001261443:exon5:c.A392C:p.Q131P;GNAL:NM_001142339:exon5:c.A392C:p.Q131P;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.A392C:p.Q131P;ENSG00000141404:ENST00000535121:exon5:c.A392C:p.Q131P;ENSG00000141404:ENST00000590228:exon2:c.A104C:p.Q35P;ENSG00000141404:ENST00000334049:exon4:c.A623C:p.Q208P;ENSG00000141404:ENST00000585642:exon3:c.A209C:p.Q70P;ENSG00000141404:ENST00000269162:exon5:c.A392C:p.Q131P;	0.210808754551469	0.338
18	11753943	A	G	18	11753944	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.A623G:p.Q208R;GNAL:NM_001261443:exon5:c.A392G:p.Q131R;GNAL:NM_001142339:exon5:c.A392G:p.Q131R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.A392G:p.Q131R;ENSG00000141404:ENST00000535121:exon5:c.A392G:p.Q131R;ENSG00000141404:ENST00000590228:exon2:c.A104G:p.Q35R;ENSG00000141404:ENST00000334049:exon4:c.A623G:p.Q208R;ENSG00000141404:ENST00000585642:exon3:c.A209G:p.Q70R;ENSG00000141404:ENST00000269162:exon5:c.A392G:p.Q131R;	0.99566786127182	0.912
18	11753943	A	T	18	11753944	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.A623T:p.Q208L;GNAL:NM_001261443:exon5:c.A392T:p.Q131L;GNAL:NM_001142339:exon5:c.A392T:p.Q131L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.A392T:p.Q131L;ENSG00000141404:ENST00000535121:exon5:c.A392T:p.Q131L;ENSG00000141404:ENST00000590228:exon2:c.A104T:p.Q35L;ENSG00000141404:ENST00000334049:exon4:c.A623T:p.Q208L;ENSG00000141404:ENST00000585642:exon3:c.A209T:p.Q70L;ENSG00000141404:ENST00000269162:exon5:c.A392T:p.Q131L;	0.992894062360824	0.598
18	11753944	G	A	18	11753945	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon4:c.G624A:p.Q208Q;GNAL:NM_001261443:exon5:c.G393A:p.Q131Q;GNAL:NM_001142339:exon5:c.G393A:p.Q131Q;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.G393A:p.Q131Q;ENSG00000141404:ENST00000535121:exon5:c.G393A:p.Q131Q;ENSG00000141404:ENST00000590228:exon2:c.G105A:p.Q35Q;ENSG00000141404:ENST00000334049:exon4:c.G624A:p.Q208Q;ENSG00000141404:ENST00000585642:exon3:c.G210A:p.Q70Q;ENSG00000141404:ENST00000269162:exon5:c.G393A:p.Q131Q;	0.946164936585326	0.678
18	11753944	G	C	18	11753945	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.G624C:p.Q208H;GNAL:NM_001261443:exon5:c.G393C:p.Q131H;GNAL:NM_001142339:exon5:c.G393C:p.Q131H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.G393C:p.Q131H;ENSG00000141404:ENST00000535121:exon5:c.G393C:p.Q131H;ENSG00000141404:ENST00000590228:exon2:c.G105C:p.Q35H;ENSG00000141404:ENST00000334049:exon4:c.G624C:p.Q208H;ENSG00000141404:ENST00000585642:exon3:c.G210C:p.Q70H;ENSG00000141404:ENST00000269162:exon5:c.G393C:p.Q131H;	0.99964756298239	0.826
18	11753944	G	T	18	11753945	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon4:c.G624T:p.Q208H;GNAL:NM_001261443:exon5:c.G393T:p.Q131H;GNAL:NM_001142339:exon5:c.G393T:p.Q131H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon4:c.G393T:p.Q131H;ENSG00000141404:ENST00000535121:exon5:c.G393T:p.Q131H;ENSG00000141404:ENST00000590228:exon2:c.G105T:p.Q35H;ENSG00000141404:ENST00000334049:exon4:c.G624T:p.Q208H;ENSG00000141404:ENST00000585642:exon3:c.G210T:p.Q70H;ENSG00000141404:ENST00000269162:exon5:c.G393T:p.Q131H;	0.999649919760078	0.852
18	11753945	G	A	18	11753946	y	y	splicing	GNAL(NM_182978:exon4:c.624+1G>A;NM_001142339:exon5:c.393+1G>A;NM_001261443:exon5:c.393+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.624+1G>A;ENST00000535121:exon5:c.393+1G>A;ENST00000269162:exon5:c.393+1G>A;ENST00000423027:exon4:c.393+1G>A;ENST00000585642:exon3:c.210+1G>A;ENST00000590228:exon2:c.105+1G>A)	.	.	0.999986675681007	0.932
18	11753945	G	C	18	11753946	y	y	splicing	GNAL(NM_182978:exon4:c.624+1G>C;NM_001142339:exon5:c.393+1G>C;NM_001261443:exon5:c.393+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.624+1G>C;ENST00000535121:exon5:c.393+1G>C;ENST00000269162:exon5:c.393+1G>C;ENST00000423027:exon4:c.393+1G>C;ENST00000585642:exon3:c.210+1G>C;ENST00000590228:exon2:c.105+1G>C)	.	.	0.999986675681007	0.932
18	11753945	G	T	18	11753946	y	y	splicing	GNAL(NM_182978:exon4:c.624+1G>T;NM_001142339:exon5:c.393+1G>T;NM_001261443:exon5:c.393+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.624+1G>T;ENST00000535121:exon5:c.393+1G>T;ENST00000269162:exon5:c.393+1G>T;ENST00000423027:exon4:c.393+1G>T;ENST00000585642:exon3:c.210+1G>T;ENST00000590228:exon2:c.105+1G>T)	.	.	0.999986675681007	0.932
18	11753946	T	A	18	11753947	y	y	splicing	GNAL(NM_182978:exon4:c.624+2T>A;NM_001142339:exon5:c.393+2T>A;NM_001261443:exon5:c.393+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.624+2T>A;ENST00000535121:exon5:c.393+2T>A;ENST00000269162:exon5:c.393+2T>A;ENST00000423027:exon4:c.393+2T>A;ENST00000585642:exon3:c.210+2T>A;ENST00000590228:exon2:c.105+2T>A)	.	.	0.999988247793601	0.926
18	11753946	T	C	18	11753947	y	y	splicing	GNAL(NM_182978:exon4:c.624+2T>C;NM_001142339:exon5:c.393+2T>C;NM_001261443:exon5:c.393+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.624+2T>C;ENST00000535121:exon5:c.393+2T>C;ENST00000269162:exon5:c.393+2T>C;ENST00000423027:exon4:c.393+2T>C;ENST00000585642:exon3:c.210+2T>C;ENST00000590228:exon2:c.105+2T>C)	.	.	0.986973409415639	0.612
18	11753946	T	G	18	11753947	y	y	splicing	GNAL(NM_182978:exon4:c.624+2T>G;NM_001142339:exon5:c.393+2T>G;NM_001261443:exon5:c.393+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon4:c.624+2T>G;ENST00000535121:exon5:c.393+2T>G;ENST00000269162:exon5:c.393+2T>G;ENST00000423027:exon4:c.393+2T>G;ENST00000585642:exon3:c.210+2T>G;ENST00000590228:exon2:c.105+2T>G)	.	.	0.999988247793601	0.926
18	11753947	A	C	18	11753948	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.901313111158323	0.636
18	11753947	A	G	18	11753948	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00117769601754413	0.028
18	11753947	A	T	18	11753948	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.856574940178508	0.548
18	11753948	A	C	18	11753949	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.193075217525634	0.316
18	11753948	A	G	18	11753949	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.519792727150742	0.434
18	11753948	A	T	18	11753949	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.272767416882057	0.294
18	11753949	G	A	18	11753950	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.977797819490021	0.63
18	11753949	G	C	18	11753950	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.877685950616339	0.606
18	11753949	G	T	18	11753950	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.938094980785916	0.538
18	11753950	A	C	18	11753951	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.36840024810563E-5	0.004
18	11753950	A	G	18	11753951	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.58778519588123E-5	0.0
18	11753950	A	T	18	11753951	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.05470384812486E-5	0.006
18	11753951	A	C	18	11753952	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.63411616583171E-4	0.002
18	11753951	A	G	18	11753952	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.18885518319932E-4	0.006
18	11753951	A	T	18	11753952	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.74198263279684E-4	0.0
18	11753952	A	C	18	11753953	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.13879224812485E-5	0.014
18	11753952	A	G	18	11753953	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.29581320696264E-5	0.0
18	11753952	A	T	18	11753953	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.90028566392549E-5	0.0
18	11824905	T	A	18	11824906	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.536426331478082	0.674
18	11824905	T	C	18	11824906	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00288600569338072	0.158
18	11824905	T	G	18	11824906	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.601849881331369	0.61
18	11824906	T	A	18	11824907	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.996265482298961	0.842
18	11824906	T	C	18	11824907	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0176407232222951	0.254
18	11824906	T	G	18	11824907	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.9596901331096	0.818
18	11824907	C	A	18	11824908	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.83250704756514E-4	0.032
18	11824907	C	G	18	11824908	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00115953088940137	0.026
18	11824907	C	T	18	11824908	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.05893574894047E-5	0.022
18	11824908	A	C	18	11824909	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.27634489115512E-5	0.0
18	11824908	A	G	18	11824909	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.14129497317903E-4	0.006
18	11824908	A	T	18	11824909	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.05265737926707E-5	0.066
18	11824909	A	C	18	11824910	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.95048459408849E-5	0.004
18	11824909	A	G	18	11824910	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.958426521509961	0.926
18	11824909	A	T	18	11824910	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.68879409084043E-5	0.0
18	11824910	A	C	18	11824911	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.51676285511944E-4	0.0
18	11824910	A	G	18	11824911	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.9998375387604	0.98
18	11824910	A	T	18	11824911	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.14744695615868E-4	0.006
18	11824911	C	A	18	11824912	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00703680367169693	0.366
18	11824911	C	G	18	11824912	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999682799372787	0.968
18	11824911	C	T	18	11824912	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.33336702838354E-5	0.02
18	11824912	T	A	18	11824913	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.996870858823346	0.878
18	11824912	T	C	18	11824913	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0077832369147028	0.15
18	11824912	T	G	18	11824913	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.985888474250943	0.78
18	11824913	T	A	18	11824914	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00470248292116535	0.046
18	11824913	T	C	18	11824914	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.67874826166967E-4	0.028
18	11824913	T	G	18	11824914	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00881228676671958	0.066
18	11824914	T	A	18	11824915	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.37444189002597	0.508
18	11824914	T	C	18	11824915	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.09477309421788E-4	0.014
18	11824914	T	G	18	11824915	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.997579098587498	0.744
18	11824915	A	C	18	11824916	y	y	splicing	GNAL(NM_182978:exon5:c.625-2A>C;NM_001142339:exon6:c.394-2A>C;NM_001261443:exon6:c.394-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.625-2A>C;ENST00000535121:exon6:c.394-2A>C;ENST00000269162:exon6:c.394-2A>C;ENST00000423027:exon5:c.394-2A>C;ENST00000585642:exon4:c.211-2A>C;ENST00000590228:exon3:c.106-2A>C)	.	.	0.999990764389106	0.94
18	11824915	A	G	18	11824916	y	y	splicing	GNAL(NM_182978:exon5:c.625-2A>G;NM_001142339:exon6:c.394-2A>G;NM_001261443:exon6:c.394-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.625-2A>G;ENST00000535121:exon6:c.394-2A>G;ENST00000269162:exon6:c.394-2A>G;ENST00000423027:exon5:c.394-2A>G;ENST00000585642:exon4:c.211-2A>G;ENST00000590228:exon3:c.106-2A>G)	.	.	0.999990764389106	0.94
18	11824915	A	T	18	11824916	y	y	splicing	GNAL(NM_182978:exon5:c.625-2A>T;NM_001142339:exon6:c.394-2A>T;NM_001261443:exon6:c.394-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.625-2A>T;ENST00000535121:exon6:c.394-2A>T;ENST00000269162:exon6:c.394-2A>T;ENST00000423027:exon5:c.394-2A>T;ENST00000585642:exon4:c.211-2A>T;ENST00000590228:exon3:c.106-2A>T)	.	.	0.999990764389106	0.94
18	11824916	G	A	18	11824917	y	y	splicing	GNAL(NM_182978:exon5:c.625-1G>A;NM_001142339:exon6:c.394-1G>A;NM_001261443:exon6:c.394-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.625-1G>A;ENST00000535121:exon6:c.394-1G>A;ENST00000269162:exon6:c.394-1G>A;ENST00000423027:exon5:c.394-1G>A;ENST00000585642:exon4:c.211-1G>A;ENST00000590228:exon3:c.106-1G>A)	.	.	0.999989528922238	0.938
18	11824916	G	C	18	11824917	y	y	splicing	GNAL(NM_182978:exon5:c.625-1G>C;NM_001142339:exon6:c.394-1G>C;NM_001261443:exon6:c.394-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.625-1G>C;ENST00000535121:exon6:c.394-1G>C;ENST00000269162:exon6:c.394-1G>C;ENST00000423027:exon5:c.394-1G>C;ENST00000585642:exon4:c.211-1G>C;ENST00000590228:exon3:c.106-1G>C)	.	.	0.999989528922238	0.938
18	11824916	G	T	18	11824917	y	y	splicing	GNAL(NM_182978:exon5:c.625-1G>T;NM_001142339:exon6:c.394-1G>T;NM_001261443:exon6:c.394-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.625-1G>T;ENST00000535121:exon6:c.394-1G>T;ENST00000269162:exon6:c.394-1G>T;ENST00000423027:exon5:c.394-1G>T;ENST00000585642:exon4:c.211-1G>T;ENST00000590228:exon3:c.106-1G>T)	.	.	0.999989528922238	0.938
18	11824917	G	A	18	11824918	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.G625A:p.E209K;GNAL:NM_001261443:exon6:c.G394A:p.E132K;GNAL:NM_001142339:exon6:c.G394A:p.E132K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.G394A:p.E132K;ENSG00000141404:ENST00000535121:exon6:c.G394A:p.E132K;ENSG00000141404:ENST00000590228:exon3:c.G106A:p.E36K;ENSG00000141404:ENST00000334049:exon5:c.G625A:p.E209K;ENSG00000141404:ENST00000585642:exon4:c.G211A:p.E71K;ENSG00000141404:ENST00000269162:exon6:c.G394A:p.E132K;	0.999849049230622	0.948
18	11824917	G	C	18	11824918	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.G625C:p.E209Q;GNAL:NM_001261443:exon6:c.G394C:p.E132Q;GNAL:NM_001142339:exon6:c.G394C:p.E132Q;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.G394C:p.E132Q;ENSG00000141404:ENST00000535121:exon6:c.G394C:p.E132Q;ENSG00000141404:ENST00000590228:exon3:c.G106C:p.E36Q;ENSG00000141404:ENST00000334049:exon5:c.G625C:p.E209Q;ENSG00000141404:ENST00000585642:exon4:c.G211C:p.E71Q;ENSG00000141404:ENST00000269162:exon6:c.G394C:p.E132Q;	0.999932026685379	0.982
18	11824917	G	T	18	11824918	y	y	exonic	GNAL	stopgain SNV	GNAL:NM_182978:exon5:c.G625T:p.E209X;GNAL:NM_001261443:exon6:c.G394T:p.E132X;GNAL:NM_001142339:exon6:c.G394T:p.E132X;	exonic	ENSG00000141404	stopgain SNV	ENSG00000141404:ENST00000423027:exon5:c.G394T:p.E132X;ENSG00000141404:ENST00000535121:exon6:c.G394T:p.E132X;ENSG00000141404:ENST00000590228:exon3:c.G106T:p.E36X;ENSG00000141404:ENST00000334049:exon5:c.G625T:p.E209X;ENSG00000141404:ENST00000585642:exon4:c.G211T:p.E71X;ENSG00000141404:ENST00000269162:exon6:c.G394T:p.E132X;	0.999953048704897	0.986
18	11824918	A	C	18	11824919	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.A626C:p.E209A;GNAL:NM_001261443:exon6:c.A395C:p.E132A;GNAL:NM_001142339:exon6:c.A395C:p.E132A;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A395C:p.E132A;ENSG00000141404:ENST00000535121:exon6:c.A395C:p.E132A;ENSG00000141404:ENST00000590228:exon3:c.A107C:p.E36A;ENSG00000141404:ENST00000334049:exon5:c.A626C:p.E209A;ENSG00000141404:ENST00000585642:exon4:c.A212C:p.E71A;ENSG00000141404:ENST00000269162:exon6:c.A395C:p.E132A;	0.752087390753859	0.722
18	11824918	A	G	18	11824919	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.A626G:p.E209G;GNAL:NM_001261443:exon6:c.A395G:p.E132G;GNAL:NM_001142339:exon6:c.A395G:p.E132G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A395G:p.E132G;ENSG00000141404:ENST00000535121:exon6:c.A395G:p.E132G;ENSG00000141404:ENST00000590228:exon3:c.A107G:p.E36G;ENSG00000141404:ENST00000334049:exon5:c.A626G:p.E209G;ENSG00000141404:ENST00000585642:exon4:c.A212G:p.E71G;ENSG00000141404:ENST00000269162:exon6:c.A395G:p.E132G;	0.74399513943506	0.512
18	11824918	A	T	18	11824919	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.A626T:p.E209V;GNAL:NM_001261443:exon6:c.A395T:p.E132V;GNAL:NM_001142339:exon6:c.A395T:p.E132V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A395T:p.E132V;ENSG00000141404:ENST00000535121:exon6:c.A395T:p.E132V;ENSG00000141404:ENST00000590228:exon3:c.A107T:p.E36V;ENSG00000141404:ENST00000334049:exon5:c.A626T:p.E209V;ENSG00000141404:ENST00000585642:exon4:c.A212T:p.E71V;ENSG00000141404:ENST00000269162:exon6:c.A395T:p.E132V;	0.753514042579344	0.584
18	11825012	A	C	18	11825013	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.A720C:p.Q240H;GNAL:NM_001261443:exon6:c.A489C:p.Q163H;GNAL:NM_001142339:exon6:c.A489C:p.Q163H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A489C:p.Q163H;ENSG00000141404:ENST00000535121:exon6:c.A489C:p.Q163H;ENSG00000141404:ENST00000590228:exon3:c.A201C:p.Q67H;ENSG00000141404:ENST00000334049:exon5:c.A720C:p.Q240H;ENSG00000141404:ENST00000585642:exon4:c.A306C:p.Q102H;ENSG00000141404:ENST00000269162:exon6:c.A489C:p.Q163H;	2.52327740230187E-5	0.04
18	11825012	A	G	18	11825013	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon5:c.A720G:p.Q240Q;GNAL:NM_001261443:exon6:c.A489G:p.Q163Q;GNAL:NM_001142339:exon6:c.A489G:p.Q163Q;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A489G:p.Q163Q;ENSG00000141404:ENST00000535121:exon6:c.A489G:p.Q163Q;ENSG00000141404:ENST00000590228:exon3:c.A201G:p.Q67Q;ENSG00000141404:ENST00000334049:exon5:c.A720G:p.Q240Q;ENSG00000141404:ENST00000585642:exon4:c.A306G:p.Q102Q;ENSG00000141404:ENST00000269162:exon6:c.A489G:p.Q163Q;	1.82722188479369E-4	0.026
18	11825012	A	T	18	11825013	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.A720T:p.Q240H;GNAL:NM_001261443:exon6:c.A489T:p.Q163H;GNAL:NM_001142339:exon6:c.A489T:p.Q163H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A489T:p.Q163H;ENSG00000141404:ENST00000535121:exon6:c.A489T:p.Q163H;ENSG00000141404:ENST00000590228:exon3:c.A201T:p.Q67H;ENSG00000141404:ENST00000334049:exon5:c.A720T:p.Q240H;ENSG00000141404:ENST00000585642:exon4:c.A306T:p.Q102H;ENSG00000141404:ENST00000269162:exon6:c.A489T:p.Q163H;	0.00696231159126004	0.268
18	11825013	T	A	18	11825014	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.T721A:p.Y241N;GNAL:NM_001261443:exon6:c.T490A:p.Y164N;GNAL:NM_001142339:exon6:c.T490A:p.Y164N;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.T490A:p.Y164N;ENSG00000141404:ENST00000535121:exon6:c.T490A:p.Y164N;ENSG00000141404:ENST00000590228:exon3:c.T202A:p.Y68N;ENSG00000141404:ENST00000334049:exon5:c.T721A:p.Y241N;ENSG00000141404:ENST00000585642:exon4:c.T307A:p.Y103N;ENSG00000141404:ENST00000269162:exon6:c.T490A:p.Y164N;	0.65042255337121	0.622
18	11825013	T	C	18	11825014	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.T721C:p.Y241H;GNAL:NM_001261443:exon6:c.T490C:p.Y164H;GNAL:NM_001142339:exon6:c.T490C:p.Y164H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.T490C:p.Y164H;ENSG00000141404:ENST00000535121:exon6:c.T490C:p.Y164H;ENSG00000141404:ENST00000590228:exon3:c.T202C:p.Y68H;ENSG00000141404:ENST00000334049:exon5:c.T721C:p.Y241H;ENSG00000141404:ENST00000585642:exon4:c.T307C:p.Y103H;ENSG00000141404:ENST00000269162:exon6:c.T490C:p.Y164H;	0.94052715091504	0.864
18	11825013	T	G	18	11825014	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.T721G:p.Y241D;GNAL:NM_001261443:exon6:c.T490G:p.Y164D;GNAL:NM_001142339:exon6:c.T490G:p.Y164D;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.T490G:p.Y164D;ENSG00000141404:ENST00000535121:exon6:c.T490G:p.Y164D;ENSG00000141404:ENST00000590228:exon3:c.T202G:p.Y68D;ENSG00000141404:ENST00000334049:exon5:c.T721G:p.Y241D;ENSG00000141404:ENST00000585642:exon4:c.T307G:p.Y103D;ENSG00000141404:ENST00000269162:exon6:c.T490G:p.Y164D;	0.949584895602686	0.866
18	11825014	A	C	18	11825015	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.A722C:p.Y241S;GNAL:NM_001261443:exon6:c.A491C:p.Y164S;GNAL:NM_001142339:exon6:c.A491C:p.Y164S;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A491C:p.Y164S;ENSG00000141404:ENST00000535121:exon6:c.A491C:p.Y164S;ENSG00000141404:ENST00000590228:exon3:c.A203C:p.Y68S;ENSG00000141404:ENST00000334049:exon5:c.A722C:p.Y241S;ENSG00000141404:ENST00000585642:exon4:c.A308C:p.Y103S;ENSG00000141404:ENST00000269162:exon6:c.A491C:p.Y164S;	0.235851975286924	0.622
18	11825014	A	G	18	11825015	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.A722G:p.Y241C;GNAL:NM_001261443:exon6:c.A491G:p.Y164C;GNAL:NM_001142339:exon6:c.A491G:p.Y164C;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A491G:p.Y164C;ENSG00000141404:ENST00000535121:exon6:c.A491G:p.Y164C;ENSG00000141404:ENST00000590228:exon3:c.A203G:p.Y68C;ENSG00000141404:ENST00000334049:exon5:c.A722G:p.Y241C;ENSG00000141404:ENST00000585642:exon4:c.A308G:p.Y103C;ENSG00000141404:ENST00000269162:exon6:c.A491G:p.Y164C;	0.337157306551738	0.334
18	11825014	A	T	18	11825015	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon5:c.A722T:p.Y241F;GNAL:NM_001261443:exon6:c.A491T:p.Y164F;GNAL:NM_001142339:exon6:c.A491T:p.Y164F;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon5:c.A491T:p.Y164F;ENSG00000141404:ENST00000535121:exon6:c.A491T:p.Y164F;ENSG00000141404:ENST00000590228:exon3:c.A203T:p.Y68F;ENSG00000141404:ENST00000334049:exon5:c.A722T:p.Y241F;ENSG00000141404:ENST00000585642:exon4:c.A308T:p.Y103F;ENSG00000141404:ENST00000269162:exon6:c.A491T:p.Y164F;	0.615221294154459	0.616
18	11825015	G	A	18	11825016	y	y	splicing	GNAL(NM_182978:exon5:c.722+1G>A;NM_001142339:exon6:c.491+1G>A;NM_001261443:exon6:c.491+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.722+1G>A;ENST00000535121:exon6:c.491+1G>A;ENST00000269162:exon6:c.491+1G>A;ENST00000423027:exon5:c.491+1G>A;ENST00000585642:exon4:c.308+1G>A;ENST00000590228:exon3:c.203+1G>A)	.	.	0.999986675681007	0.932
18	11825015	G	C	18	11825016	y	y	splicing	GNAL(NM_182978:exon5:c.722+1G>C;NM_001142339:exon6:c.491+1G>C;NM_001261443:exon6:c.491+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.722+1G>C;ENST00000535121:exon6:c.491+1G>C;ENST00000269162:exon6:c.491+1G>C;ENST00000423027:exon5:c.491+1G>C;ENST00000585642:exon4:c.308+1G>C;ENST00000590228:exon3:c.203+1G>C)	.	.	0.999986675681007	0.932
18	11825015	G	T	18	11825016	y	y	splicing	GNAL(NM_182978:exon5:c.722+1G>T;NM_001142339:exon6:c.491+1G>T;NM_001261443:exon6:c.491+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.722+1G>T;ENST00000535121:exon6:c.491+1G>T;ENST00000269162:exon6:c.491+1G>T;ENST00000423027:exon5:c.491+1G>T;ENST00000585642:exon4:c.308+1G>T;ENST00000590228:exon3:c.203+1G>T)	.	.	0.999986675681007	0.932
18	11825016	T	A	18	11825017	y	y	splicing	GNAL(NM_182978:exon5:c.722+2T>A;NM_001142339:exon6:c.491+2T>A;NM_001261443:exon6:c.491+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.722+2T>A;ENST00000535121:exon6:c.491+2T>A;ENST00000269162:exon6:c.491+2T>A;ENST00000423027:exon5:c.491+2T>A;ENST00000585642:exon4:c.308+2T>A;ENST00000590228:exon3:c.203+2T>A)	.	.	0.999988247793601	0.928
18	11825016	T	C	18	11825017	y	y	splicing	GNAL(NM_182978:exon5:c.722+2T>C;NM_001142339:exon6:c.491+2T>C;NM_001261443:exon6:c.491+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.722+2T>C;ENST00000535121:exon6:c.491+2T>C;ENST00000269162:exon6:c.491+2T>C;ENST00000423027:exon5:c.491+2T>C;ENST00000585642:exon4:c.308+2T>C;ENST00000590228:exon3:c.203+2T>C)	.	.	0.994669226766359	0.658
18	11825016	T	G	18	11825017	y	y	splicing	GNAL(NM_182978:exon5:c.722+2T>G;NM_001142339:exon6:c.491+2T>G;NM_001261443:exon6:c.491+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon5:c.722+2T>G;ENST00000535121:exon6:c.491+2T>G;ENST00000269162:exon6:c.491+2T>G;ENST00000423027:exon5:c.491+2T>G;ENST00000585642:exon4:c.308+2T>G;ENST00000590228:exon3:c.203+2T>G)	.	.	0.999988247793601	0.928
18	11825017	A	C	18	11825018	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999753558833746	0.822
18	11825017	A	G	18	11825018	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0937078795860018	0.364
18	11825017	A	T	18	11825018	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999736519413842	0.946
18	11825018	A	C	18	11825019	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.998299117931177	0.932
18	11825018	A	G	18	11825019	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.998584958900894	0.992
18	11825018	A	T	18	11825019	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.998584958900894	0.96
18	11825019	G	A	18	11825020	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999967018685523	0.994
18	11825019	G	C	18	11825020	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999979669128783	0.986
18	11825019	G	T	18	11825020	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999968833967818	0.992
18	11825020	T	A	18	11825021	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.979857217140769	0.798
18	11825020	T	C	18	11825021	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.992846990732485	0.796
18	11825020	T	G	18	11825021	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.997380471830794	0.84
18	11825021	T	A	18	11825022	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.82035599739421E-5	0.0
18	11825021	T	C	18	11825022	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.67714557557337E-5	0.0
18	11825021	T	G	18	11825022	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.67714557557337E-5	0.002
18	11825022	G	A	18	11825023	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.00706700634841E-5	0.0
18	11825022	G	C	18	11825023	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.37550049726255E-5	0.0
18	11825022	G	T	18	11825023	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.37550049726255E-5	0.002
18	11857782	C	A	18	11857783	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.3099781559464E-4	0.0
18	11857782	C	G	18	11857783	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.12581597765867E-4	0.0
18	11857782	C	T	18	11857783	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	1.28787216154889E-4	0.002
18	11857783	A	C	18	11857784	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.00832436904377E-5	0.0
18	11857783	A	G	18	11857784	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.00832436904377E-5	0.0
18	11857783	A	T	18	11857784	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	6.00832436904377E-5	0.0
18	11857784	C	A	18	11857785	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	5.58255349957421E-5	0.002
18	11857784	C	G	18	11857785	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	5.58255349957421E-5	0.0
18	11857784	C	T	18	11857785	y	y	UTR5	GNAL	.	.	UTR5	ENSG00000141404	.	.	5.58255349957421E-5	0.0
18	11857785	G	A	18	11857786	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	1.42005417025298E-5	0.0
18	11857785	G	C	18	11857786	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	1.42005417025298E-5	0.0
18	11857785	G	T	18	11857786	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	1.42005417025298E-5	0.0
18	11857786	T	A	18	11857787	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	7.5480235718294E-5	0.0
18	11857786	T	C	18	11857787	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	1.37184549953077E-4	0.0
18	11857786	T	G	18	11857787	y	y	splicing	GNAL	.	.	splicing	ENSG00000141404	.	.	1.37184549953077E-4	0.0
18	11857787	G	A	18	11857788	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.12581597765867E-4	0.0
18	11857787	G	C	18	11857788	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.19523722086209E-5	0.0
18	11857787	G	T	18	11857788	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.19523722086209E-5	0.0
18	11857788	A	C	18	11857789	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.93008933363103E-5	0.0
18	11857788	A	G	18	11857789	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.93008933363103E-5	0.0
18	11857788	A	T	18	11857789	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.93008933363103E-5	0.0
18	11857789	G	A	18	11857790	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.62965044666173E-5	0.0
18	11857789	G	C	18	11857790	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.59706358747764E-5	0.0
18	11857789	G	T	18	11857790	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.59706358747764E-5	0.0
18	11857790	T	A	18	11857791	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.77798218238944E-4	0.006
18	11857790	T	C	18	11857791	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.9188670368541E-4	0.004
18	11857790	T	G	18	11857791	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.9188670368541E-4	0.004
18	11857791	A	C	18	11857792	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.90414643571129E-5	0.0
18	11857791	A	G	18	11857792	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.90414643571129E-5	0.0
18	11857791	A	T	18	11857792	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.1336373593913E-5	0.0
18	11857792	A	C	18	11857793	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.35428655471156E-5	0.002
18	11857792	A	G	18	11857793	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.35428655471156E-5	0.002
18	11857792	A	T	18	11857793	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.01315188657279E-5	0.0
18	11862382	C	A	18	11862383	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.07643749505165E-4	0.27
18	11862382	C	G	18	11862383	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.16471880282256E-5	0.112
18	11862382	C	T	18	11862383	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.84266800070874E-4	0.258
18	11862383	T	A	18	11862384	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.206445468400061	0.478
18	11862383	T	C	18	11862384	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0909309383768303	0.33
18	11862383	T	G	18	11862384	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.195844961338443	0.376
18	11862384	T	A	18	11862385	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.159556896848015	0.388
18	11862384	T	C	18	11862385	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.37341184760107E-5	0.082
18	11862384	T	G	18	11862385	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0780585423753583	0.348
18	11862385	T	A	18	11862386	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.130835796371919	0.396
18	11862385	T	C	18	11862386	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.60820690465559E-5	0.094
18	11862385	T	G	18	11862386	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0622749925615848	0.34
18	11862386	C	A	18	11862387	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00100056191149461	0.104
18	11862386	C	G	18	11862387	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.64717740079287E-4	0.078
18	11862386	C	T	18	11862387	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.25190315465587E-4	0.064
18	11862387	T	A	18	11862388	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.241667071598288	0.354
18	11862387	T	C	18	11862388	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00648255930539259	0.08
18	11862387	T	G	18	11862388	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.197412161793221	0.288
18	11862388	T	A	18	11862389	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.50974050316304	0.498
18	11862388	T	C	18	11862389	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.53887608296774E-4	0.118
18	11862388	T	G	18	11862389	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.521542560811884	0.484
18	11862389	T	A	18	11862390	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.998690518171568	0.866
18	11862389	T	C	18	11862390	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.27192841278958E-5	0.038
18	11862389	T	G	18	11862390	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.179668893290326	0.292
18	11862390	G	A	18	11862391	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.28573307312807E-4	0.028
18	11862390	G	C	18	11862391	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.21596626986187E-4	0.01
18	11862390	G	T	18	11862391	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.41257467740883E-4	0.026
18	11862391	C	A	18	11862392	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.742454040010729	0.626
18	11862391	C	G	18	11862392	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999977263734454	0.986
18	11862391	C	T	18	11862392	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0265338501289082	0.098
18	11862392	A	C	18	11862393	y	y	splicing	GNAL(NM_182978:exon6:c.723-2A>C;NM_001142339:exon7:c.492-2A>C;NM_001261443:exon7:c.492-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.723-2A>C;ENST00000535121:exon7:c.492-2A>C;ENST00000269162:exon7:c.492-2A>C;ENST00000423027:exon6:c.492-2A>C;ENST00000585642:exon5:c.309-2A>C;ENST00000590228:exon4:c.204-2A>C)	.	.	0.999989917668626	0.928
18	11862392	A	G	18	11862393	y	y	splicing	GNAL(NM_182978:exon6:c.723-2A>G;NM_001142339:exon7:c.492-2A>G;NM_001261443:exon7:c.492-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.723-2A>G;ENST00000535121:exon7:c.492-2A>G;ENST00000269162:exon7:c.492-2A>G;ENST00000423027:exon6:c.492-2A>G;ENST00000585642:exon5:c.309-2A>G;ENST00000590228:exon4:c.204-2A>G)	.	.	0.999989917668626	0.928
18	11862392	A	T	18	11862393	y	y	splicing	GNAL(NM_182978:exon6:c.723-2A>T;NM_001142339:exon7:c.492-2A>T;NM_001261443:exon7:c.492-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.723-2A>T;ENST00000535121:exon7:c.492-2A>T;ENST00000269162:exon7:c.492-2A>T;ENST00000423027:exon6:c.492-2A>T;ENST00000585642:exon5:c.309-2A>T;ENST00000590228:exon4:c.204-2A>T)	.	.	0.999989917668626	0.928
18	11862393	G	A	18	11862394	y	y	splicing	GNAL(NM_182978:exon6:c.723-1G>A;NM_001142339:exon7:c.492-1G>A;NM_001261443:exon7:c.492-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.723-1G>A;ENST00000535121:exon7:c.492-1G>A;ENST00000269162:exon7:c.492-1G>A;ENST00000423027:exon6:c.492-1G>A;ENST00000585642:exon5:c.309-1G>A;ENST00000590228:exon4:c.204-1G>A)	.	.	0.999986675681007	0.936
18	11862393	G	C	18	11862394	y	y	splicing	GNAL(NM_182978:exon6:c.723-1G>C;NM_001142339:exon7:c.492-1G>C;NM_001261443:exon7:c.492-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.723-1G>C;ENST00000535121:exon7:c.492-1G>C;ENST00000269162:exon7:c.492-1G>C;ENST00000423027:exon6:c.492-1G>C;ENST00000585642:exon5:c.309-1G>C;ENST00000590228:exon4:c.204-1G>C)	.	.	0.999986675681007	0.936
18	11862393	G	T	18	11862394	y	y	splicing	GNAL(NM_182978:exon6:c.723-1G>T;NM_001142339:exon7:c.492-1G>T;NM_001261443:exon7:c.492-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.723-1G>T;ENST00000535121:exon7:c.492-1G>T;ENST00000269162:exon7:c.492-1G>T;ENST00000423027:exon6:c.492-1G>T;ENST00000585642:exon5:c.309-1G>T;ENST00000590228:exon4:c.204-1G>T)	.	.	0.999986675681007	0.936
18	11862394	C	A	18	11862395	y	y	exonic	GNAL	stopgain SNV	GNAL:NM_182978:exon6:c.C723A:p.Y241X;GNAL:NM_001261443:exon7:c.C492A:p.Y164X;GNAL:NM_001142339:exon7:c.C492A:p.Y164X;	exonic	ENSG00000141404	stopgain SNV	ENSG00000141404:ENST00000423027:exon6:c.C492A:p.Y164X;ENSG00000141404:ENST00000535121:exon7:c.C492A:p.Y164X;ENSG00000141404:ENST00000590228:exon4:c.C204A:p.Y68X;ENSG00000141404:ENST00000334049:exon6:c.C723A:p.Y241X;ENSG00000141404:ENST00000585642:exon5:c.C309A:p.Y103X;ENSG00000141404:ENST00000269162:exon7:c.C492A:p.Y164X;	0.861986886140737	0.832
18	11862394	C	G	18	11862395	y	y	exonic	GNAL	stopgain SNV	GNAL:NM_182978:exon6:c.C723G:p.Y241X;GNAL:NM_001261443:exon7:c.C492G:p.Y164X;GNAL:NM_001142339:exon7:c.C492G:p.Y164X;	exonic	ENSG00000141404	stopgain SNV	ENSG00000141404:ENST00000423027:exon6:c.C492G:p.Y164X;ENSG00000141404:ENST00000535121:exon7:c.C492G:p.Y164X;ENSG00000141404:ENST00000590228:exon4:c.C204G:p.Y68X;ENSG00000141404:ENST00000334049:exon6:c.C723G:p.Y241X;ENSG00000141404:ENST00000585642:exon5:c.C309G:p.Y103X;ENSG00000141404:ENST00000269162:exon7:c.C492G:p.Y164X;	0.879999655365115	0.76
18	11862394	C	T	18	11862395	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon6:c.C723T:p.Y241Y;GNAL:NM_001261443:exon7:c.C492T:p.Y164Y;GNAL:NM_001142339:exon7:c.C492T:p.Y164Y;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.C492T:p.Y164Y;ENSG00000141404:ENST00000535121:exon7:c.C492T:p.Y164Y;ENSG00000141404:ENST00000590228:exon4:c.C204T:p.Y68Y;ENSG00000141404:ENST00000334049:exon6:c.C723T:p.Y241Y;ENSG00000141404:ENST00000585642:exon5:c.C309T:p.Y103Y;ENSG00000141404:ENST00000269162:exon7:c.C492T:p.Y164Y;	0.0934262672425542	0.38
18	11862395	T	A	18	11862396	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.T724A:p.F242I;GNAL:NM_001261443:exon7:c.T493A:p.F165I;GNAL:NM_001142339:exon7:c.T493A:p.F165I;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.T493A:p.F165I;ENSG00000141404:ENST00000535121:exon7:c.T493A:p.F165I;ENSG00000141404:ENST00000590228:exon4:c.T205A:p.F69I;ENSG00000141404:ENST00000334049:exon6:c.T724A:p.F242I;ENSG00000141404:ENST00000585642:exon5:c.T310A:p.F104I;ENSG00000141404:ENST00000269162:exon7:c.T493A:p.F165I;	0.108443179854133	0.502
18	11862395	T	C	18	11862396	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.T724C:p.F242L;GNAL:NM_001261443:exon7:c.T493C:p.F165L;GNAL:NM_001142339:exon7:c.T493C:p.F165L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.T493C:p.F165L;ENSG00000141404:ENST00000535121:exon7:c.T493C:p.F165L;ENSG00000141404:ENST00000590228:exon4:c.T205C:p.F69L;ENSG00000141404:ENST00000334049:exon6:c.T724C:p.F242L;ENSG00000141404:ENST00000585642:exon5:c.T310C:p.F104L;ENSG00000141404:ENST00000269162:exon7:c.T493C:p.F165L;	0.0935985906921163	0.488
18	11862395	T	G	18	11862396	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.T724G:p.F242V;GNAL:NM_001261443:exon7:c.T493G:p.F165V;GNAL:NM_001142339:exon7:c.T493G:p.F165V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.T493G:p.F165V;ENSG00000141404:ENST00000535121:exon7:c.T493G:p.F165V;ENSG00000141404:ENST00000590228:exon4:c.T205G:p.F69V;ENSG00000141404:ENST00000334049:exon6:c.T724G:p.F242V;ENSG00000141404:ENST00000585642:exon5:c.T310G:p.F104V;ENSG00000141404:ENST00000269162:exon7:c.T493G:p.F165V;	0.13564413512483	0.506
18	11862446	C	A	18	11862447	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.C775A:p.Q259K;GNAL:NM_001261443:exon7:c.C544A:p.Q182K;GNAL:NM_001142339:exon7:c.C544A:p.Q182K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.C544A:p.Q182K;ENSG00000141404:ENST00000535121:exon7:c.C544A:p.Q182K;ENSG00000141404:ENST00000590228:exon4:c.C256A:p.Q86K;ENSG00000141404:ENST00000334049:exon6:c.C775A:p.Q259K;ENSG00000141404:ENST00000585642:exon5:c.C361A:p.Q121K;ENSG00000141404:ENST00000269162:exon7:c.C544A:p.Q182K;	0.826119386669932	0.78
18	11862446	C	G	18	11862447	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.C775G:p.Q259E;GNAL:NM_001261443:exon7:c.C544G:p.Q182E;GNAL:NM_001142339:exon7:c.C544G:p.Q182E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.C544G:p.Q182E;ENSG00000141404:ENST00000535121:exon7:c.C544G:p.Q182E;ENSG00000141404:ENST00000590228:exon4:c.C256G:p.Q86E;ENSG00000141404:ENST00000334049:exon6:c.C775G:p.Q259E;ENSG00000141404:ENST00000585642:exon5:c.C361G:p.Q121E;ENSG00000141404:ENST00000269162:exon7:c.C544G:p.Q182E;	0.595765867829492	0.608
18	11862446	C	T	18	11862447	y	y	exonic	GNAL	stopgain SNV	GNAL:NM_182978:exon6:c.C775T:p.Q259X;GNAL:NM_001261443:exon7:c.C544T:p.Q182X;GNAL:NM_001142339:exon7:c.C544T:p.Q182X;	exonic	ENSG00000141404	stopgain SNV	ENSG00000141404:ENST00000423027:exon6:c.C544T:p.Q182X;ENSG00000141404:ENST00000535121:exon7:c.C544T:p.Q182X;ENSG00000141404:ENST00000590228:exon4:c.C256T:p.Q86X;ENSG00000141404:ENST00000334049:exon6:c.C775T:p.Q259X;ENSG00000141404:ENST00000585642:exon5:c.C361T:p.Q121X;ENSG00000141404:ENST00000269162:exon7:c.C544T:p.Q182X;	0.984987525412125	0.808
18	11862447	A	C	18	11862448	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.A776C:p.Q259P;GNAL:NM_001261443:exon7:c.A545C:p.Q182P;GNAL:NM_001142339:exon7:c.A545C:p.Q182P;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.A545C:p.Q182P;ENSG00000141404:ENST00000535121:exon7:c.A545C:p.Q182P;ENSG00000141404:ENST00000590228:exon4:c.A257C:p.Q86P;ENSG00000141404:ENST00000334049:exon6:c.A776C:p.Q259P;ENSG00000141404:ENST00000585642:exon5:c.A362C:p.Q121P;ENSG00000141404:ENST00000269162:exon7:c.A545C:p.Q182P;	0.994762512782804	0.944
18	11862447	A	G	18	11862448	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.A776G:p.Q259R;GNAL:NM_001261443:exon7:c.A545G:p.Q182R;GNAL:NM_001142339:exon7:c.A545G:p.Q182R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.A545G:p.Q182R;ENSG00000141404:ENST00000535121:exon7:c.A545G:p.Q182R;ENSG00000141404:ENST00000590228:exon4:c.A257G:p.Q86R;ENSG00000141404:ENST00000334049:exon6:c.A776G:p.Q259R;ENSG00000141404:ENST00000585642:exon5:c.A362G:p.Q121R;ENSG00000141404:ENST00000269162:exon7:c.A545G:p.Q182R;	0.998940692130473	0.948
18	11862447	A	T	18	11862448	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.A776T:p.Q259L;GNAL:NM_001261443:exon7:c.A545T:p.Q182L;GNAL:NM_001142339:exon7:c.A545T:p.Q182L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.A545T:p.Q182L;ENSG00000141404:ENST00000535121:exon7:c.A545T:p.Q182L;ENSG00000141404:ENST00000590228:exon4:c.A257T:p.Q86L;ENSG00000141404:ENST00000334049:exon6:c.A776T:p.Q259L;ENSG00000141404:ENST00000585642:exon5:c.A362T:p.Q121L;ENSG00000141404:ENST00000269162:exon7:c.A545T:p.Q182L;	0.99966775548786	0.96
18	11862448	G	A	18	11862449	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon6:c.G777A:p.Q259Q;GNAL:NM_001261443:exon7:c.G546A:p.Q182Q;GNAL:NM_001142339:exon7:c.G546A:p.Q182Q;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.G546A:p.Q182Q;ENSG00000141404:ENST00000535121:exon7:c.G546A:p.Q182Q;ENSG00000141404:ENST00000590228:exon4:c.G258A:p.Q86Q;ENSG00000141404:ENST00000334049:exon6:c.G777A:p.Q259Q;ENSG00000141404:ENST00000585642:exon5:c.G363A:p.Q121Q;ENSG00000141404:ENST00000269162:exon7:c.G546A:p.Q182Q;	0.996484717750284	0.902
18	11862448	G	C	18	11862449	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.G777C:p.Q259H;GNAL:NM_001261443:exon7:c.G546C:p.Q182H;GNAL:NM_001142339:exon7:c.G546C:p.Q182H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.G546C:p.Q182H;ENSG00000141404:ENST00000535121:exon7:c.G546C:p.Q182H;ENSG00000141404:ENST00000590228:exon4:c.G258C:p.Q86H;ENSG00000141404:ENST00000334049:exon6:c.G777C:p.Q259H;ENSG00000141404:ENST00000585642:exon5:c.G363C:p.Q121H;ENSG00000141404:ENST00000269162:exon7:c.G546C:p.Q182H;	0.999980267719979	0.992
18	11862448	G	T	18	11862449	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon6:c.G777T:p.Q259H;GNAL:NM_001261443:exon7:c.G546T:p.Q182H;GNAL:NM_001142339:exon7:c.G546T:p.Q182H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon6:c.G546T:p.Q182H;ENSG00000141404:ENST00000535121:exon7:c.G546T:p.Q182H;ENSG00000141404:ENST00000590228:exon4:c.G258T:p.Q86H;ENSG00000141404:ENST00000334049:exon6:c.G777T:p.Q259H;ENSG00000141404:ENST00000585642:exon5:c.G363T:p.Q121H;ENSG00000141404:ENST00000269162:exon7:c.G546T:p.Q182H;	0.999965192089784	0.992
18	11862449	G	A	18	11862450	y	y	splicing	GNAL(NM_182978:exon6:c.777+1G>A;NM_001142339:exon7:c.546+1G>A;NM_001261443:exon7:c.546+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.777+1G>A;ENST00000535121:exon7:c.546+1G>A;ENST00000269162:exon7:c.546+1G>A;ENST00000423027:exon6:c.546+1G>A;ENST00000585642:exon5:c.363+1G>A;ENST00000590228:exon4:c.258+1G>A)	.	.	0.999986675681007	0.934
18	11862449	G	C	18	11862450	y	y	splicing	GNAL(NM_182978:exon6:c.777+1G>C;NM_001142339:exon7:c.546+1G>C;NM_001261443:exon7:c.546+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.777+1G>C;ENST00000535121:exon7:c.546+1G>C;ENST00000269162:exon7:c.546+1G>C;ENST00000423027:exon6:c.546+1G>C;ENST00000585642:exon5:c.363+1G>C;ENST00000590228:exon4:c.258+1G>C)	.	.	0.999986675681007	0.934
18	11862449	G	T	18	11862450	y	y	splicing	GNAL(NM_182978:exon6:c.777+1G>T;NM_001142339:exon7:c.546+1G>T;NM_001261443:exon7:c.546+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.777+1G>T;ENST00000535121:exon7:c.546+1G>T;ENST00000269162:exon7:c.546+1G>T;ENST00000423027:exon6:c.546+1G>T;ENST00000585642:exon5:c.363+1G>T;ENST00000590228:exon4:c.258+1G>T)	.	.	0.999986675681007	0.934
18	11862450	T	A	18	11862451	y	y	splicing	GNAL(NM_182978:exon6:c.777+2T>A;NM_001142339:exon7:c.546+2T>A;NM_001261443:exon7:c.546+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.777+2T>A;ENST00000535121:exon7:c.546+2T>A;ENST00000269162:exon7:c.546+2T>A;ENST00000423027:exon6:c.546+2T>A;ENST00000585642:exon5:c.363+2T>A;ENST00000590228:exon4:c.258+2T>A)	.	.	0.999989917668626	0.926
18	11862450	T	C	18	11862451	y	y	splicing	GNAL(NM_182978:exon6:c.777+2T>C;NM_001142339:exon7:c.546+2T>C;NM_001261443:exon7:c.546+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.777+2T>C;ENST00000535121:exon7:c.546+2T>C;ENST00000269162:exon7:c.546+2T>C;ENST00000423027:exon6:c.546+2T>C;ENST00000585642:exon5:c.363+2T>C;ENST00000590228:exon4:c.258+2T>C)	.	.	0.985266808656705	0.606
18	11862450	T	G	18	11862451	y	y	splicing	GNAL(NM_182978:exon6:c.777+2T>G;NM_001142339:exon7:c.546+2T>G;NM_001261443:exon7:c.546+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon6:c.777+2T>G;ENST00000535121:exon7:c.546+2T>G;ENST00000269162:exon7:c.546+2T>G;ENST00000423027:exon6:c.546+2T>G;ENST00000585642:exon5:c.363+2T>G;ENST00000590228:exon4:c.258+2T>G)	.	.	0.999989917668626	0.926
18	11862451	A	C	18	11862452	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.984565391768078	0.792
18	11862451	A	G	18	11862452	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.953782654512014	0.72
18	11862451	A	T	18	11862452	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.991498383922651	0.736
18	11862452	T	A	18	11862453	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.64841747486592E-5	0.018
18	11862452	T	C	18	11862453	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.88709620177118E-5	0.0
18	11862452	T	G	18	11862453	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.04441597645685E-5	0.004
18	11862453	G	A	18	11862454	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.875275102219541	0.628
18	11862453	G	C	18	11862454	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.852983548699567	0.676
18	11862453	G	T	18	11862454	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.884871122965521	0.77
18	11862454	T	A	18	11862455	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00328479270025384	0.088
18	11862454	T	C	18	11862455	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00418236929030363	0.144
18	11862454	T	G	18	11862455	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.08072674318733E-4	0.052
18	11862455	G	A	18	11862456	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.47168161564967E-4	0.004
18	11862455	G	C	18	11862456	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.92579719034625E-4	0.0
18	11862455	G	T	18	11862456	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.27482666104554E-4	0.0
18	11862456	G	A	18	11862457	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.75538498902536E-5	0.0
18	11862456	G	C	18	11862457	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.02203293062935E-5	0.002
18	11862456	G	T	18	11862457	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.75538498902536E-5	0.002
18	11864520	T	A	18	11864521	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00823566144299162	0.184
18	11864520	T	C	18	11864521	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.92800775311484E-5	0.008
18	11864520	T	G	18	11864521	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00187965203529574	0.166
18	11864521	C	A	18	11864522	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.0951238087128E-4	0.022
18	11864521	C	G	18	11864522	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.90233686729554E-5	0.008
18	11864521	C	T	18	11864522	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.38251897315196E-5	0.0
18	11864522	T	A	18	11864523	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.2709479032204E-4	0.042
18	11864522	T	C	18	11864523	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.07849203452592E-5	0.0
18	11864522	T	G	18	11864523	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.57657574572138E-4	0.076
18	11864523	T	A	18	11864524	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999909812764861	0.964
18	11864523	T	C	18	11864524	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.22195446786203E-5	0.01
18	11864523	T	G	18	11864524	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.19589284221867E-4	0.08
18	11864524	G	A	18	11864525	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.28728387358597E-4	0.016
18	11864524	G	C	18	11864525	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.94978018429805E-5	0.004
18	11864524	G	T	18	11864525	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.05386857383127E-5	0.004
18	11864525	T	A	18	11864526	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00247417122600025	0.118
18	11864525	T	C	18	11864526	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.24568462296397E-4	0.01
18	11864525	T	G	18	11864526	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.78279073317247E-4	0.046
18	11864526	T	A	18	11864527	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.68082008755078E-4	0.038
18	11864526	T	C	18	11864527	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.03386087915778E-5	0.0
18	11864526	T	G	18	11864527	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.0600387090923E-4	0.036
18	11864527	C	A	18	11864528	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00753169045804192	0.116
18	11864527	C	G	18	11864528	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0238832641960031	0.148
18	11864527	C	T	18	11864528	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.90641724201656E-5	0.0
18	11864528	C	A	18	11864529	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.24962273554099E-5	0.004
18	11864528	C	G	18	11864529	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.87377144090276E-5	0.002
18	11864528	C	T	18	11864529	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.04137147658859E-5	0.006
18	11864529	C	A	18	11864530	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.270797058201455	0.51
18	11864529	C	G	18	11864530	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.996311629152927	0.954
18	11864529	C	T	18	11864530	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00478414145865555	0.09
18	11864530	A	C	18	11864531	y	y	splicing	GNAL(NM_182978:exon7:c.778-2A>C;NM_001142339:exon8:c.547-2A>C;NM_001261443:exon8:c.547-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.778-2A>C;ENST00000535121:exon8:c.547-2A>C;ENST00000269162:exon8:c.547-2A>C;ENST00000423027:exon7:c.547-2A>C;ENST00000585642:exon6:c.364-2A>C;ENST00000590228:exon5:c.259-2A>C)	.	.	0.999990155693597	0.926
18	11864530	A	G	18	11864531	y	y	splicing	GNAL(NM_182978:exon7:c.778-2A>G;NM_001142339:exon8:c.547-2A>G;NM_001261443:exon8:c.547-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.778-2A>G;ENST00000535121:exon8:c.547-2A>G;ENST00000269162:exon8:c.547-2A>G;ENST00000423027:exon7:c.547-2A>G;ENST00000585642:exon6:c.364-2A>G;ENST00000590228:exon5:c.259-2A>G)	.	.	0.999990155693597	0.926
18	11864530	A	T	18	11864531	y	y	splicing	GNAL(NM_182978:exon7:c.778-2A>T;NM_001142339:exon8:c.547-2A>T;NM_001261443:exon8:c.547-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.778-2A>T;ENST00000535121:exon8:c.547-2A>T;ENST00000269162:exon8:c.547-2A>T;ENST00000423027:exon7:c.547-2A>T;ENST00000585642:exon6:c.364-2A>T;ENST00000590228:exon5:c.259-2A>T)	.	.	0.999990155693597	0.926
18	11864531	G	A	18	11864532	y	y	splicing	GNAL(NM_182978:exon7:c.778-1G>A;NM_001142339:exon8:c.547-1G>A;NM_001261443:exon8:c.547-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.778-1G>A;ENST00000535121:exon8:c.547-1G>A;ENST00000269162:exon8:c.547-1G>A;ENST00000423027:exon7:c.547-1G>A;ENST00000585642:exon6:c.364-1G>A;ENST00000590228:exon5:c.259-1G>A)	.	.	0.999986675681007	0.936
18	11864531	G	C	18	11864532	y	y	splicing	GNAL(NM_182978:exon7:c.778-1G>C;NM_001142339:exon8:c.547-1G>C;NM_001261443:exon8:c.547-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.778-1G>C;ENST00000535121:exon8:c.547-1G>C;ENST00000269162:exon8:c.547-1G>C;ENST00000423027:exon7:c.547-1G>C;ENST00000585642:exon6:c.364-1G>C;ENST00000590228:exon5:c.259-1G>C)	.	.	0.999986675681007	0.936
18	11864531	G	T	18	11864532	y	y	splicing	GNAL(NM_182978:exon7:c.778-1G>T;NM_001142339:exon8:c.547-1G>T;NM_001261443:exon8:c.547-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.778-1G>T;ENST00000535121:exon8:c.547-1G>T;ENST00000269162:exon8:c.547-1G>T;ENST00000423027:exon7:c.547-1G>T;ENST00000585642:exon6:c.364-1G>T;ENST00000590228:exon5:c.259-1G>T)	.	.	0.999986675681007	0.936
18	11864532	G	A	18	11864533	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.G778A:p.D260N;GNAL:NM_001261443:exon8:c.G547A:p.D183N;GNAL:NM_001142339:exon8:c.G547A:p.D183N;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.G547A:p.D183N;ENSG00000141404:ENST00000535121:exon8:c.G547A:p.D183N;ENSG00000141404:ENST00000590228:exon5:c.G259A:p.D87N;ENSG00000141404:ENST00000334049:exon7:c.G778A:p.D260N;ENSG00000141404:ENST00000585642:exon6:c.G364A:p.D122N;ENSG00000141404:ENST00000269162:exon8:c.G547A:p.D183N;	0.988633046563734	0.85
18	11864532	G	C	18	11864533	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.G778C:p.D260H;GNAL:NM_001261443:exon8:c.G547C:p.D183H;GNAL:NM_001142339:exon8:c.G547C:p.D183H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.G547C:p.D183H;ENSG00000141404:ENST00000535121:exon8:c.G547C:p.D183H;ENSG00000141404:ENST00000590228:exon5:c.G259C:p.D87H;ENSG00000141404:ENST00000334049:exon7:c.G778C:p.D260H;ENSG00000141404:ENST00000585642:exon6:c.G364C:p.D122H;ENSG00000141404:ENST00000269162:exon8:c.G547C:p.D183H;	0.999330917626066	0.978
18	11864532	G	T	18	11864533	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.G778T:p.D260Y;GNAL:NM_001261443:exon8:c.G547T:p.D183Y;GNAL:NM_001142339:exon8:c.G547T:p.D183Y;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.G547T:p.D183Y;ENSG00000141404:ENST00000535121:exon8:c.G547T:p.D183Y;ENSG00000141404:ENST00000590228:exon5:c.G259T:p.D87Y;ENSG00000141404:ENST00000334049:exon7:c.G778T:p.D260Y;ENSG00000141404:ENST00000585642:exon6:c.G364T:p.D122Y;ENSG00000141404:ENST00000269162:exon8:c.G547T:p.D183Y;	0.999302668955733	0.986
18	11864533	A	C	18	11864534	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.A779C:p.D260A;GNAL:NM_001261443:exon8:c.A548C:p.D183A;GNAL:NM_001142339:exon8:c.A548C:p.D183A;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.A548C:p.D183A;ENSG00000141404:ENST00000535121:exon8:c.A548C:p.D183A;ENSG00000141404:ENST00000590228:exon5:c.A260C:p.D87A;ENSG00000141404:ENST00000334049:exon7:c.A779C:p.D260A;ENSG00000141404:ENST00000585642:exon6:c.A365C:p.D122A;ENSG00000141404:ENST00000269162:exon8:c.A548C:p.D183A;	0.704788325230442	0.79
18	11864533	A	G	18	11864534	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.A779G:p.D260G;GNAL:NM_001261443:exon8:c.A548G:p.D183G;GNAL:NM_001142339:exon8:c.A548G:p.D183G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.A548G:p.D183G;ENSG00000141404:ENST00000535121:exon8:c.A548G:p.D183G;ENSG00000141404:ENST00000590228:exon5:c.A260G:p.D87G;ENSG00000141404:ENST00000334049:exon7:c.A779G:p.D260G;ENSG00000141404:ENST00000585642:exon6:c.A365G:p.D122G;ENSG00000141404:ENST00000269162:exon8:c.A548G:p.D183G;	0.600899370438653	0.752
18	11864533	A	T	18	11864534	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.A779T:p.D260V;GNAL:NM_001261443:exon8:c.A548T:p.D183V;GNAL:NM_001142339:exon8:c.A548T:p.D183V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.A548T:p.D183V;ENSG00000141404:ENST00000535121:exon8:c.A548T:p.D183V;ENSG00000141404:ENST00000590228:exon5:c.A260T:p.D87V;ENSG00000141404:ENST00000334049:exon7:c.A779T:p.D260V;ENSG00000141404:ENST00000585642:exon6:c.A365T:p.D122V;ENSG00000141404:ENST00000269162:exon8:c.A548T:p.D183V;	0.591868340089774	0.754
18	11864603	C	A	18	11864604	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.C849A:p.F283L;GNAL:NM_001261443:exon8:c.C618A:p.F206L;GNAL:NM_001142339:exon8:c.C618A:p.F206L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.C618A:p.F206L;ENSG00000141404:ENST00000535121:exon8:c.C618A:p.F206L;ENSG00000141404:ENST00000590228:exon5:c.C330A:p.F110L;ENSG00000141404:ENST00000334049:exon7:c.C849A:p.F283L;ENSG00000141404:ENST00000585642:exon6:c.C435A:p.F145L;ENSG00000141404:ENST00000269162:exon8:c.C618A:p.F206L;	1.99692465897781E-5	0.072
18	11864603	C	G	18	11864604	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.C849G:p.F283L;GNAL:NM_001261443:exon8:c.C618G:p.F206L;GNAL:NM_001142339:exon8:c.C618G:p.F206L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.C618G:p.F206L;ENSG00000141404:ENST00000535121:exon8:c.C618G:p.F206L;ENSG00000141404:ENST00000590228:exon5:c.C330G:p.F110L;ENSG00000141404:ENST00000334049:exon7:c.C849G:p.F283L;ENSG00000141404:ENST00000585642:exon6:c.C435G:p.F145L;ENSG00000141404:ENST00000269162:exon8:c.C618G:p.F206L;	1.29838744520531E-4	0.15
18	11864603	C	T	18	11864604	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon7:c.C849T:p.F283F;GNAL:NM_001261443:exon8:c.C618T:p.F206F;GNAL:NM_001142339:exon8:c.C618T:p.F206F;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.C618T:p.F206F;ENSG00000141404:ENST00000535121:exon8:c.C618T:p.F206F;ENSG00000141404:ENST00000590228:exon5:c.C330T:p.F110F;ENSG00000141404:ENST00000334049:exon7:c.C849T:p.F283F;ENSG00000141404:ENST00000585642:exon6:c.C435T:p.F145F;ENSG00000141404:ENST00000269162:exon8:c.C618T:p.F206F;	0.00104520514254242	0.056
18	11864604	C	A	18	11864605	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.C850A:p.H284N;GNAL:NM_001261443:exon8:c.C619A:p.H207N;GNAL:NM_001142339:exon8:c.C619A:p.H207N;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.C619A:p.H207N;ENSG00000141404:ENST00000535121:exon8:c.C619A:p.H207N;ENSG00000141404:ENST00000590228:exon5:c.C331A:p.H111N;ENSG00000141404:ENST00000334049:exon7:c.C850A:p.H284N;ENSG00000141404:ENST00000585642:exon6:c.C436A:p.H146N;ENSG00000141404:ENST00000269162:exon8:c.C619A:p.H207N;	0.859836745949085	0.64
18	11864604	C	G	18	11864605	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.C850G:p.H284D;GNAL:NM_001261443:exon8:c.C619G:p.H207D;GNAL:NM_001142339:exon8:c.C619G:p.H207D;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.C619G:p.H207D;ENSG00000141404:ENST00000535121:exon8:c.C619G:p.H207D;ENSG00000141404:ENST00000590228:exon5:c.C331G:p.H111D;ENSG00000141404:ENST00000334049:exon7:c.C850G:p.H284D;ENSG00000141404:ENST00000585642:exon6:c.C436G:p.H146D;ENSG00000141404:ENST00000269162:exon8:c.C619G:p.H207D;	0.882565990864218	0.822
18	11864604	C	T	18	11864605	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.C850T:p.H284Y;GNAL:NM_001261443:exon8:c.C619T:p.H207Y;GNAL:NM_001142339:exon8:c.C619T:p.H207Y;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.C619T:p.H207Y;ENSG00000141404:ENST00000535121:exon8:c.C619T:p.H207Y;ENSG00000141404:ENST00000590228:exon5:c.C331T:p.H111Y;ENSG00000141404:ENST00000334049:exon7:c.C850T:p.H284Y;ENSG00000141404:ENST00000585642:exon6:c.C436T:p.H146Y;ENSG00000141404:ENST00000269162:exon8:c.C619T:p.H207Y;	0.983894231806661	0.712
18	11864605	A	C	18	11864606	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.A851C:p.H284P;GNAL:NM_001261443:exon8:c.A620C:p.H207P;GNAL:NM_001142339:exon8:c.A620C:p.H207P;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.A620C:p.H207P;ENSG00000141404:ENST00000535121:exon8:c.A620C:p.H207P;ENSG00000141404:ENST00000590228:exon5:c.A332C:p.H111P;ENSG00000141404:ENST00000334049:exon7:c.A851C:p.H284P;ENSG00000141404:ENST00000585642:exon6:c.A437C:p.H146P;ENSG00000141404:ENST00000269162:exon8:c.A620C:p.H207P;	0.0621120408620284	0.514
18	11864605	A	G	18	11864606	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.A851G:p.H284R;GNAL:NM_001261443:exon8:c.A620G:p.H207R;GNAL:NM_001142339:exon8:c.A620G:p.H207R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.A620G:p.H207R;ENSG00000141404:ENST00000535121:exon8:c.A620G:p.H207R;ENSG00000141404:ENST00000590228:exon5:c.A332G:p.H111R;ENSG00000141404:ENST00000334049:exon7:c.A851G:p.H284R;ENSG00000141404:ENST00000585642:exon6:c.A437G:p.H146R;ENSG00000141404:ENST00000269162:exon8:c.A620G:p.H207R;	0.00192055437856943	0.07
18	11864605	A	T	18	11864606	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon7:c.A851T:p.H284L;GNAL:NM_001261443:exon8:c.A620T:p.H207L;GNAL:NM_001142339:exon8:c.A620T:p.H207L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon7:c.A620T:p.H207L;ENSG00000141404:ENST00000535121:exon8:c.A620T:p.H207L;ENSG00000141404:ENST00000590228:exon5:c.A332T:p.H111L;ENSG00000141404:ENST00000334049:exon7:c.A851T:p.H284L;ENSG00000141404:ENST00000585642:exon6:c.A437T:p.H146L;ENSG00000141404:ENST00000269162:exon8:c.A620T:p.H207L;	0.37324140224446	0.484
18	11864606	G	A	18	11864607	y	y	splicing	GNAL(NM_182978:exon7:c.851+1G>A;NM_001142339:exon8:c.620+1G>A;NM_001261443:exon8:c.620+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.851+1G>A;ENST00000535121:exon8:c.620+1G>A;ENST00000269162:exon8:c.620+1G>A;ENST00000423027:exon7:c.620+1G>A;ENST00000585642:exon6:c.437+1G>A;ENST00000590228:exon5:c.332+1G>A)	.	.	0.999986675681007	0.936
18	11864606	G	C	18	11864607	y	y	splicing	GNAL(NM_182978:exon7:c.851+1G>C;NM_001142339:exon8:c.620+1G>C;NM_001261443:exon8:c.620+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.851+1G>C;ENST00000535121:exon8:c.620+1G>C;ENST00000269162:exon8:c.620+1G>C;ENST00000423027:exon7:c.620+1G>C;ENST00000585642:exon6:c.437+1G>C;ENST00000590228:exon5:c.332+1G>C)	.	.	0.999986675681007	0.936
18	11864606	G	T	18	11864607	y	y	splicing	GNAL(NM_182978:exon7:c.851+1G>T;NM_001142339:exon8:c.620+1G>T;NM_001261443:exon8:c.620+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.851+1G>T;ENST00000535121:exon8:c.620+1G>T;ENST00000269162:exon8:c.620+1G>T;ENST00000423027:exon7:c.620+1G>T;ENST00000585642:exon6:c.437+1G>T;ENST00000590228:exon5:c.332+1G>T)	.	.	0.999986675681007	0.936
18	11864607	T	A	18	11864608	y	y	splicing	GNAL(NM_182978:exon7:c.851+2T>A;NM_001142339:exon8:c.620+2T>A;NM_001261443:exon8:c.620+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.851+2T>A;ENST00000535121:exon8:c.620+2T>A;ENST00000269162:exon8:c.620+2T>A;ENST00000423027:exon7:c.620+2T>A;ENST00000585642:exon6:c.437+2T>A;ENST00000590228:exon5:c.332+2T>A)	.	.	0.999990155693597	0.928
18	11864607	T	C	18	11864608	y	y	splicing	GNAL(NM_182978:exon7:c.851+2T>C;NM_001142339:exon8:c.620+2T>C;NM_001261443:exon8:c.620+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.851+2T>C;ENST00000535121:exon8:c.620+2T>C;ENST00000269162:exon8:c.620+2T>C;ENST00000423027:exon7:c.620+2T>C;ENST00000585642:exon6:c.437+2T>C;ENST00000590228:exon5:c.332+2T>C)	.	.	0.999946782235443	0.86
18	11864607	T	G	18	11864608	y	y	splicing	GNAL(NM_182978:exon7:c.851+2T>G;NM_001142339:exon8:c.620+2T>G;NM_001261443:exon8:c.620+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon7:c.851+2T>G;ENST00000535121:exon8:c.620+2T>G;ENST00000269162:exon8:c.620+2T>G;ENST00000423027:exon7:c.620+2T>G;ENST00000585642:exon6:c.437+2T>G;ENST00000590228:exon5:c.332+2T>G)	.	.	0.999990155693597	0.926
18	11864608	G	A	18	11864609	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.61194551200706E-4	0.018
18	11864608	G	C	18	11864609	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999544896360743	0.774
18	11864608	G	T	18	11864609	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999211712008045	0.772
18	11864609	A	C	18	11864610	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.996549716089366	0.866
18	11864609	A	G	18	11864610	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.997287240813272	0.87
18	11864609	A	T	18	11864610	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.99950469029956	0.912
18	11864610	G	A	18	11864611	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999968543938335	1.0
18	11864610	G	C	18	11864611	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999964667335701	0.982
18	11864610	G	T	18	11864611	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999964338533138	0.992
18	11864611	T	A	18	11864612	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.961267035471421	0.718
18	11864611	T	C	18	11864612	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.971225341346168	0.862
18	11864611	T	G	18	11864612	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.945865219429875	0.78
18	11864612	A	C	18	11864613	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.68923898581757E-4	0.002
18	11864612	A	G	18	11864613	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.68923898581757E-4	0.002
18	11864612	A	T	18	11864613	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.94510130213323E-5	0.004
18	11864613	T	A	18	11864614	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0018279525457082	0.12
18	11864613	T	C	18	11864614	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00159353457655087	0.038
18	11864613	T	G	18	11864614	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0018279525457082	0.1
18	11867155	G	A	18	11867156	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.26105989453709E-4	0.0
18	11867155	G	C	18	11867156	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.60139254705156E-5	0.002
18	11867155	G	T	18	11867156	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.58601396562738E-5	0.002
18	11867156	C	A	18	11867157	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.32185114004676E-4	0.17
18	11867156	C	G	18	11867157	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.91540557636612E-4	0.074
18	11867156	C	T	18	11867157	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.36876498324964E-5	0.0
18	11867157	T	A	18	11867158	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00440119280649869	0.252
18	11867157	T	C	18	11867158	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.09131554068883E-4	0.04
18	11867157	T	G	18	11867158	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00306108455145961	0.218
18	11867158	C	A	18	11867159	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00116768193432916	0.122
18	11867158	C	G	18	11867159	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00156101451300427	0.122
18	11867158	C	T	18	11867159	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.4966977998429E-5	0.002
18	11867159	T	A	18	11867160	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.85676454116791E-4	0.058
18	11867159	T	C	18	11867160	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.27781708323705E-5	0.004
18	11867159	T	G	18	11867160	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.46637071783074E-4	0.072
18	11867160	T	A	18	11867161	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00860131066158163	0.1
18	11867160	T	C	18	11867161	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.94684013000407E-4	0.036
18	11867160	T	G	18	11867161	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0072350991765636	0.12
18	11867161	C	A	18	11867162	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00975996900936621	0.11
18	11867161	C	G	18	11867162	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.001811162669987	0.102
18	11867161	C	T	18	11867162	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.50872025105942E-5	0.006
18	11867162	C	A	18	11867163	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.073815241079452	0.272
18	11867162	C	G	18	11867163	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.039052158925385	0.352
18	11867162	C	T	18	11867163	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00121657808886584	0.036
18	11867163	A	C	18	11867164	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.64801090673425E-4	0.076
18	11867163	A	G	18	11867164	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.92512682173352E-4	0.05
18	11867163	A	T	18	11867164	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.756559358578E-4	0.068
18	11867164	C	A	18	11867165	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.948251435350983	0.836
18	11867164	C	G	18	11867165	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999927144619326	0.904
18	11867164	C	T	18	11867165	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.011938611310507	0.04
18	11867165	A	C	18	11867166	y	y	splicing	GNAL(NM_182978:exon8:c.852-2A>C;NM_001142339:exon9:c.621-2A>C;NM_001261443:exon9:c.621-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.852-2A>C;ENST00000535121:exon9:c.621-2A>C;ENST00000269162:exon9:c.621-2A>C;ENST00000423027:exon8:c.621-2A>C;ENST00000585642:exon7:c.438-2A>C;ENST00000590228:exon6:c.333-2A>C)	.	.	0.999988247793601	0.928
18	11867165	A	G	18	11867166	y	y	splicing	GNAL(NM_182978:exon8:c.852-2A>G;NM_001142339:exon9:c.621-2A>G;NM_001261443:exon9:c.621-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.852-2A>G;ENST00000535121:exon9:c.621-2A>G;ENST00000269162:exon9:c.621-2A>G;ENST00000423027:exon8:c.621-2A>G;ENST00000585642:exon7:c.438-2A>G;ENST00000590228:exon6:c.333-2A>G)	.	.	0.999988247793601	0.928
18	11867165	A	T	18	11867166	y	y	splicing	GNAL(NM_182978:exon8:c.852-2A>T;NM_001142339:exon9:c.621-2A>T;NM_001261443:exon9:c.621-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.852-2A>T;ENST00000535121:exon9:c.621-2A>T;ENST00000269162:exon9:c.621-2A>T;ENST00000423027:exon8:c.621-2A>T;ENST00000585642:exon7:c.438-2A>T;ENST00000590228:exon6:c.333-2A>T)	.	.	0.999988247793601	0.928
18	11867166	G	A	18	11867167	y	y	splicing	GNAL(NM_182978:exon8:c.852-1G>A;NM_001142339:exon9:c.621-1G>A;NM_001261443:exon9:c.621-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.852-1G>A;ENST00000535121:exon9:c.621-1G>A;ENST00000269162:exon9:c.621-1G>A;ENST00000423027:exon8:c.621-1G>A;ENST00000585642:exon7:c.438-1G>A;ENST00000590228:exon6:c.333-1G>A)	.	.	0.999985532734767	0.938
18	11867166	G	C	18	11867167	y	y	splicing	GNAL(NM_182978:exon8:c.852-1G>C;NM_001142339:exon9:c.621-1G>C;NM_001261443:exon9:c.621-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.852-1G>C;ENST00000535121:exon9:c.621-1G>C;ENST00000269162:exon9:c.621-1G>C;ENST00000423027:exon8:c.621-1G>C;ENST00000585642:exon7:c.438-1G>C;ENST00000590228:exon6:c.333-1G>C)	.	.	0.999985532734767	0.938
18	11867166	G	T	18	11867167	y	y	splicing	GNAL(NM_182978:exon8:c.852-1G>T;NM_001142339:exon9:c.621-1G>T;NM_001261443:exon9:c.621-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.852-1G>T;ENST00000535121:exon9:c.621-1G>T;ENST00000269162:exon9:c.621-1G>T;ENST00000423027:exon8:c.621-1G>T;ENST00000585642:exon7:c.438-1G>T;ENST00000590228:exon6:c.333-1G>T)	.	.	0.999985532734767	0.938
18	11867167	C	A	18	11867168	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.C852A:p.H284Q;GNAL:NM_001261443:exon9:c.C621A:p.H207Q;GNAL:NM_001142339:exon9:c.C621A:p.H207Q;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.C621A:p.H207Q;ENSG00000141404:ENST00000535121:exon9:c.C621A:p.H207Q;ENSG00000141404:ENST00000590228:exon6:c.C333A:p.H111Q;ENSG00000141404:ENST00000334049:exon8:c.C852A:p.H284Q;ENSG00000141404:ENST00000585642:exon7:c.C438A:p.H146Q;ENSG00000141404:ENST00000269162:exon9:c.C621A:p.H207Q;	0.00200634460580913	0.07
18	11867167	C	G	18	11867168	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.C852G:p.H284Q;GNAL:NM_001261443:exon9:c.C621G:p.H207Q;GNAL:NM_001142339:exon9:c.C621G:p.H207Q;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.C621G:p.H207Q;ENSG00000141404:ENST00000535121:exon9:c.C621G:p.H207Q;ENSG00000141404:ENST00000590228:exon6:c.C333G:p.H111Q;ENSG00000141404:ENST00000334049:exon8:c.C852G:p.H284Q;ENSG00000141404:ENST00000585642:exon7:c.C438G:p.H146Q;ENSG00000141404:ENST00000269162:exon9:c.C621G:p.H207Q;	0.00644726974695398	0.156
18	11867167	C	T	18	11867168	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon8:c.C852T:p.H284H;GNAL:NM_001261443:exon9:c.C621T:p.H207H;GNAL:NM_001142339:exon9:c.C621T:p.H207H;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.C621T:p.H207H;ENSG00000141404:ENST00000535121:exon9:c.C621T:p.H207H;ENSG00000141404:ENST00000590228:exon6:c.C333T:p.H111H;ENSG00000141404:ENST00000334049:exon8:c.C852T:p.H284H;ENSG00000141404:ENST00000585642:exon7:c.C438T:p.H146H;ENSG00000141404:ENST00000269162:exon9:c.C621T:p.H207H;	9.48252077805079E-4	0.092
18	11867168	A	C	18	11867169	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.A853C:p.M285L;GNAL:NM_001261443:exon9:c.A622C:p.M208L;GNAL:NM_001261444:exon4:c.A1C:p.M1L;GNAL:NM_001142339:exon9:c.A622C:p.M208L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.A622C:p.M208L;ENSG00000141404:ENST00000602628:exon4:c.A1C:p.M1L;ENSG00000141404:ENST00000535121:exon9:c.A622C:p.M208L;ENSG00000141404:ENST00000590228:exon6:c.A334C:p.M112L;ENSG00000141404:ENST00000334049:exon8:c.A853C:p.M285L;ENSG00000141404:ENST00000585642:exon7:c.A439C:p.M147L;ENSG00000141404:ENST00000269162:exon9:c.A622C:p.M208L;	0.902250744765706	0.874
18	11867168	A	G	18	11867169	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.A853G:p.M285V;GNAL:NM_001261443:exon9:c.A622G:p.M208V;GNAL:NM_001261444:exon4:c.A1G:p.M1V;GNAL:NM_001142339:exon9:c.A622G:p.M208V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.A622G:p.M208V;ENSG00000141404:ENST00000602628:exon4:c.A1G:p.M1V;ENSG00000141404:ENST00000535121:exon9:c.A622G:p.M208V;ENSG00000141404:ENST00000590228:exon6:c.A334G:p.M112V;ENSG00000141404:ENST00000334049:exon8:c.A853G:p.M285V;ENSG00000141404:ENST00000585642:exon7:c.A439G:p.M147V;ENSG00000141404:ENST00000269162:exon9:c.A622G:p.M208V;	0.79830587742767	0.74
18	11867168	A	T	18	11867169	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.A853T:p.M285L;GNAL:NM_001261443:exon9:c.A622T:p.M208L;GNAL:NM_001261444:exon4:c.A1T:p.M1L;GNAL:NM_001142339:exon9:c.A622T:p.M208L;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.A622T:p.M208L;ENSG00000141404:ENST00000602628:exon4:c.A1T:p.M1L;ENSG00000141404:ENST00000535121:exon9:c.A622T:p.M208L;ENSG00000141404:ENST00000590228:exon6:c.A334T:p.M112L;ENSG00000141404:ENST00000334049:exon8:c.A853T:p.M285L;ENSG00000141404:ENST00000585642:exon7:c.A439T:p.M147L;ENSG00000141404:ENST00000269162:exon9:c.A622T:p.M208L;	0.849163536269843	0.758
18	11867223	A	C	18	11867224	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.A908C:p.N303T;GNAL:NM_001261443:exon9:c.A677C:p.N226T;GNAL:NM_001261444:exon4:c.A56C:p.N19T;GNAL:NM_001142339:exon9:c.A677C:p.N226T;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.A677C:p.N226T;ENSG00000141404:ENST00000602628:exon4:c.A56C:p.N19T;ENSG00000141404:ENST00000535121:exon9:c.A677C:p.N226T;ENSG00000141404:ENST00000590228:exon6:c.A389C:p.N130T;ENSG00000141404:ENST00000334049:exon8:c.A908C:p.N303T;ENSG00000141404:ENST00000585642:exon7:c.A494C:p.N165T;ENSG00000141404:ENST00000269162:exon9:c.A677C:p.N226T;	0.568118234177982	0.556
18	11867223	A	G	18	11867224	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.A908G:p.N303S;GNAL:NM_001261443:exon9:c.A677G:p.N226S;GNAL:NM_001261444:exon4:c.A56G:p.N19S;GNAL:NM_001142339:exon9:c.A677G:p.N226S;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.A677G:p.N226S;ENSG00000141404:ENST00000602628:exon4:c.A56G:p.N19S;ENSG00000141404:ENST00000535121:exon9:c.A677G:p.N226S;ENSG00000141404:ENST00000590228:exon6:c.A389G:p.N130S;ENSG00000141404:ENST00000334049:exon8:c.A908G:p.N303S;ENSG00000141404:ENST00000585642:exon7:c.A494G:p.N165S;ENSG00000141404:ENST00000269162:exon9:c.A677G:p.N226S;	0.341924928329946	0.388
18	11867223	A	T	18	11867224	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.A908T:p.N303I;GNAL:NM_001261443:exon9:c.A677T:p.N226I;GNAL:NM_001261444:exon4:c.A56T:p.N19I;GNAL:NM_001142339:exon9:c.A677T:p.N226I;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.A677T:p.N226I;ENSG00000141404:ENST00000602628:exon4:c.A56T:p.N19I;ENSG00000141404:ENST00000535121:exon9:c.A677T:p.N226I;ENSG00000141404:ENST00000590228:exon6:c.A389T:p.N130I;ENSG00000141404:ENST00000334049:exon8:c.A908T:p.N303I;ENSG00000141404:ENST00000585642:exon7:c.A494T:p.N165I;ENSG00000141404:ENST00000269162:exon9:c.A677T:p.N226I;	0.957870378403723	0.668
18	11867224	C	A	18	11867225	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.C909A:p.N303K;GNAL:NM_001261443:exon9:c.C678A:p.N226K;GNAL:NM_001261444:exon4:c.C57A:p.N19K;GNAL:NM_001142339:exon9:c.C678A:p.N226K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.C678A:p.N226K;ENSG00000141404:ENST00000602628:exon4:c.C57A:p.N19K;ENSG00000141404:ENST00000535121:exon9:c.C678A:p.N226K;ENSG00000141404:ENST00000590228:exon6:c.C390A:p.N130K;ENSG00000141404:ENST00000334049:exon8:c.C909A:p.N303K;ENSG00000141404:ENST00000585642:exon7:c.C495A:p.N165K;ENSG00000141404:ENST00000269162:exon9:c.C678A:p.N226K;	2.8438185944449E-5	0.162
18	11867224	C	G	18	11867225	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.C909G:p.N303K;GNAL:NM_001261443:exon9:c.C678G:p.N226K;GNAL:NM_001261444:exon4:c.C57G:p.N19K;GNAL:NM_001142339:exon9:c.C678G:p.N226K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.C678G:p.N226K;ENSG00000141404:ENST00000602628:exon4:c.C57G:p.N19K;ENSG00000141404:ENST00000535121:exon9:c.C678G:p.N226K;ENSG00000141404:ENST00000590228:exon6:c.C390G:p.N130K;ENSG00000141404:ENST00000334049:exon8:c.C909G:p.N303K;ENSG00000141404:ENST00000585642:exon7:c.C495G:p.N165K;ENSG00000141404:ENST00000269162:exon9:c.C678G:p.N226K;	0.00429190178352493	0.148
18	11867224	C	T	18	11867225	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon8:c.C909T:p.N303N;GNAL:NM_001261443:exon9:c.C678T:p.N226N;GNAL:NM_001261444:exon4:c.C57T:p.N19N;GNAL:NM_001142339:exon9:c.C678T:p.N226N;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.C678T:p.N226N;ENSG00000141404:ENST00000602628:exon4:c.C57T:p.N19N;ENSG00000141404:ENST00000535121:exon9:c.C678T:p.N226N;ENSG00000141404:ENST00000590228:exon6:c.C390T:p.N130N;ENSG00000141404:ENST00000334049:exon8:c.C909T:p.N303N;ENSG00000141404:ENST00000585642:exon7:c.C495T:p.N165N;ENSG00000141404:ENST00000269162:exon9:c.C678T:p.N226N;	5.11129596975687E-4	0.134
18	11867225	G	A	18	11867226	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.G910A:p.D304N;GNAL:NM_001261443:exon9:c.G679A:p.D227N;GNAL:NM_001261444:exon4:c.G58A:p.D20N;GNAL:NM_001142339:exon9:c.G679A:p.D227N;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.G679A:p.D227N;ENSG00000141404:ENST00000602628:exon4:c.G58A:p.D20N;ENSG00000141404:ENST00000535121:exon9:c.G679A:p.D227N;ENSG00000141404:ENST00000590228:exon6:c.G391A:p.D131N;ENSG00000141404:ENST00000334049:exon8:c.G910A:p.D304N;ENSG00000141404:ENST00000585642:exon7:c.G496A:p.D166N;ENSG00000141404:ENST00000269162:exon9:c.G679A:p.D227N;	0.999948657515597	0.992
18	11867225	G	C	18	11867226	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.G910C:p.D304H;GNAL:NM_001261443:exon9:c.G679C:p.D227H;GNAL:NM_001261444:exon4:c.G58C:p.D20H;GNAL:NM_001142339:exon9:c.G679C:p.D227H;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.G679C:p.D227H;ENSG00000141404:ENST00000602628:exon4:c.G58C:p.D20H;ENSG00000141404:ENST00000535121:exon9:c.G679C:p.D227H;ENSG00000141404:ENST00000590228:exon6:c.G391C:p.D131H;ENSG00000141404:ENST00000334049:exon8:c.G910C:p.D304H;ENSG00000141404:ENST00000585642:exon7:c.G496C:p.D166H;ENSG00000141404:ENST00000269162:exon9:c.G679C:p.D227H;	0.999982365681865	0.988
18	11867225	G	T	18	11867226	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon8:c.G910T:p.D304Y;GNAL:NM_001261443:exon9:c.G679T:p.D227Y;GNAL:NM_001261444:exon4:c.G58T:p.D20Y;GNAL:NM_001142339:exon9:c.G679T:p.D227Y;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon8:c.G679T:p.D227Y;ENSG00000141404:ENST00000602628:exon4:c.G58T:p.D20Y;ENSG00000141404:ENST00000535121:exon9:c.G679T:p.D227Y;ENSG00000141404:ENST00000590228:exon6:c.G391T:p.D131Y;ENSG00000141404:ENST00000334049:exon8:c.G910T:p.D304Y;ENSG00000141404:ENST00000585642:exon7:c.G496T:p.D166Y;ENSG00000141404:ENST00000269162:exon9:c.G679T:p.D227Y;	0.999956502856837	0.99
18	11867226	G	A	18	11867227	y	y	splicing	GNAL(NM_182978:exon8:c.910+1G>A;NM_001142339:exon9:c.679+1G>A;NM_001261443:exon9:c.679+1G>A;NM_001261444:exon4:c.58+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.910+1G>A;ENST00000535121:exon9:c.679+1G>A;ENST00000269162:exon9:c.679+1G>A;ENST00000423027:exon8:c.679+1G>A;ENST00000585642:exon7:c.496+1G>A;ENST00000590228:exon6:c.391+1G>A;ENST00000602628:exon4:c.58+1G>A)	.	.	0.999968021563937	0.916
18	11867226	G	C	18	11867227	y	y	splicing	GNAL(NM_182978:exon8:c.910+1G>C;NM_001142339:exon9:c.679+1G>C;NM_001261443:exon9:c.679+1G>C;NM_001261444:exon4:c.58+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.910+1G>C;ENST00000535121:exon9:c.679+1G>C;ENST00000269162:exon9:c.679+1G>C;ENST00000423027:exon8:c.679+1G>C;ENST00000585642:exon7:c.496+1G>C;ENST00000590228:exon6:c.391+1G>C;ENST00000602628:exon4:c.58+1G>C)	.	.	0.999968021563937	0.914
18	11867226	G	T	18	11867227	y	y	splicing	GNAL(NM_182978:exon8:c.910+1G>T;NM_001142339:exon9:c.679+1G>T;NM_001261443:exon9:c.679+1G>T;NM_001261444:exon4:c.58+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.910+1G>T;ENST00000535121:exon9:c.679+1G>T;ENST00000269162:exon9:c.679+1G>T;ENST00000423027:exon8:c.679+1G>T;ENST00000585642:exon7:c.496+1G>T;ENST00000590228:exon6:c.391+1G>T;ENST00000602628:exon4:c.58+1G>T)	.	.	0.999968021563937	0.916
18	11867227	T	A	18	11867228	y	y	splicing	GNAL(NM_182978:exon8:c.910+2T>A;NM_001142339:exon9:c.679+2T>A;NM_001261443:exon9:c.679+2T>A;NM_001261444:exon4:c.58+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.910+2T>A;ENST00000535121:exon9:c.679+2T>A;ENST00000269162:exon9:c.679+2T>A;ENST00000423027:exon8:c.679+2T>A;ENST00000585642:exon7:c.496+2T>A;ENST00000590228:exon6:c.391+2T>A;ENST00000602628:exon4:c.58+2T>A)	.	.	0.999982322733069	0.912
18	11867227	T	C	18	11867228	y	y	splicing	GNAL(NM_182978:exon8:c.910+2T>C;NM_001142339:exon9:c.679+2T>C;NM_001261443:exon9:c.679+2T>C;NM_001261444:exon4:c.58+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.910+2T>C;ENST00000535121:exon9:c.679+2T>C;ENST00000269162:exon9:c.679+2T>C;ENST00000423027:exon8:c.679+2T>C;ENST00000585642:exon7:c.496+2T>C;ENST00000590228:exon6:c.391+2T>C;ENST00000602628:exon4:c.58+2T>C)	.	.	0.999714852575718	0.86
18	11867227	T	G	18	11867228	y	y	splicing	GNAL(NM_182978:exon8:c.910+2T>G;NM_001142339:exon9:c.679+2T>G;NM_001261443:exon9:c.679+2T>G;NM_001261444:exon4:c.58+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon8:c.910+2T>G;ENST00000535121:exon9:c.679+2T>G;ENST00000269162:exon9:c.679+2T>G;ENST00000423027:exon8:c.679+2T>G;ENST00000585642:exon7:c.496+2T>G;ENST00000590228:exon6:c.391+2T>G;ENST00000602628:exon4:c.58+2T>G)	.	.	0.999974876897234	0.906
18	11867228	G	A	18	11867229	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.3062075744224E-4	0.118
18	11867228	G	C	18	11867229	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.98799462558134	0.668
18	11867228	G	T	18	11867229	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.995883056161847	0.654
18	11867229	A	C	18	11867230	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.981405838710056	0.772
18	11867229	A	G	18	11867230	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999662793247616	0.922
18	11867229	A	T	18	11867230	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.99989622081717	0.882
18	11867230	T	A	18	11867231	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.56570736734349E-4	0.014
18	11867230	T	C	18	11867231	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.33049964622338E-4	0.01
18	11867230	T	G	18	11867231	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00116783902861415	0.126
18	11867231	T	A	18	11867232	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.427225757579895	0.502
18	11867231	T	C	18	11867232	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.928266088838788	0.656
18	11867231	T	G	18	11867232	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.154510179898582	0.45
18	11867232	T	A	18	11867233	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.83277102901073E-5	0.0
18	11867232	T	C	18	11867233	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.83277102901073E-5	0.0
18	11867232	T	G	18	11867233	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.83277102901073E-5	0.0
18	11867233	T	A	18	11867234	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.56025613143381E-4	0.042
18	11867233	T	C	18	11867234	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.39187121572188E-4	0.008
18	11867233	T	G	18	11867234	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.7220611458453E-4	0.024
18	11868530	C	A	18	11868531	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.14788190282752E-4	0.04
18	11868530	C	G	18	11868531	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.55488863802607E-4	0.078
18	11868530	C	T	18	11868531	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.33946811008169E-5	0.014
18	11868531	T	A	18	11868532	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.014742513565749	0.236
18	11868531	T	C	18	11868532	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.54051133790529E-4	0.056
18	11868531	T	G	18	11868532	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0022393705158926	0.2
18	11868532	C	A	18	11868533	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.03135395475667E-4	0.09
18	11868532	C	G	18	11868533	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.39846832831808E-4	0.088
18	11868532	C	T	18	11868533	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.81153856523022E-5	0.044
18	11868533	C	A	18	11868534	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.51472963932223E-4	0.03
18	11868533	C	G	18	11868534	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.99884466542494E-4	0.04
18	11868533	C	T	18	11868534	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.23900548684356E-5	0.0
18	11868534	C	A	18	11868535	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.132943510608616	0.35
18	11868534	C	G	18	11868535	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0648965836323287	0.31
18	11868534	C	T	18	11868535	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.38244657946888E-4	0.118
18	11868535	C	A	18	11868536	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00451790986188555	0.074
18	11868535	C	G	18	11868536	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00425954634786034	0.08
18	11868535	C	T	18	11868536	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.99081438035432E-5	0.016
18	11868536	A	C	18	11868537	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.44182041168042E-5	0.006
18	11868536	A	G	18	11868537	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.98968703161704E-5	0.004
18	11868536	A	T	18	11868537	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.452844609455E-5	0.004
18	11868537	C	A	18	11868538	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.87996528948975E-4	0.056
18	11868537	C	G	18	11868538	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999873853765477	0.99
18	11868537	C	T	18	11868538	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.57815603583536E-5	0.008
18	11868538	C	A	18	11868539	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.51965981708353E-5	0.0
18	11868538	C	G	18	11868539	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.03387865294112E-4	0.012
18	11868538	C	T	18	11868539	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.51965981708353E-5	0.0
18	11868539	A	C	18	11868540	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.64027561058413E-4	0.106
18	11868539	A	G	18	11868540	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0524621900438889	0.27
18	11868539	A	T	18	11868540	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.1990364721285E-5	0.034
18	11868540	A	C	18	11868541	y	y	splicing	GNAL(NM_182978:exon9:c.911-2A>C;NM_001142339:exon10:c.680-2A>C;NM_001261443:exon10:c.680-2A>C;NM_001261444:exon5:c.59-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.911-2A>C;ENST00000535121:exon10:c.680-2A>C;ENST00000269162:exon10:c.680-2A>C;ENST00000423027:exon9:c.680-2A>C;ENST00000585642:exon8:c.497-2A>C;ENST00000590228:exon7:c.392-2A>C;ENST00000602628:exon5:c.59-2A>C)	.	.	0.999980458178334	0.902
18	11868540	A	G	18	11868541	y	y	splicing	GNAL(NM_182978:exon9:c.911-2A>G;NM_001142339:exon10:c.680-2A>G;NM_001261443:exon10:c.680-2A>G;NM_001261444:exon5:c.59-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.911-2A>G;ENST00000535121:exon10:c.680-2A>G;ENST00000269162:exon10:c.680-2A>G;ENST00000423027:exon9:c.680-2A>G;ENST00000585642:exon8:c.497-2A>G;ENST00000590228:exon7:c.392-2A>G;ENST00000602628:exon5:c.59-2A>G)	.	.	0.999980458178334	0.902
18	11868540	A	T	18	11868541	y	y	splicing	GNAL(NM_182978:exon9:c.911-2A>T;NM_001142339:exon10:c.680-2A>T;NM_001261443:exon10:c.680-2A>T;NM_001261444:exon5:c.59-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.911-2A>T;ENST00000535121:exon10:c.680-2A>T;ENST00000269162:exon10:c.680-2A>T;ENST00000423027:exon9:c.680-2A>T;ENST00000585642:exon8:c.497-2A>T;ENST00000590228:exon7:c.392-2A>T;ENST00000602628:exon5:c.59-2A>T)	.	.	0.999980458178334	0.898
18	11868541	G	A	18	11868542	y	y	splicing	GNAL(NM_182978:exon9:c.911-1G>A;NM_001142339:exon10:c.680-1G>A;NM_001261443:exon10:c.680-1G>A;NM_001261444:exon5:c.59-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.911-1G>A;ENST00000535121:exon10:c.680-1G>A;ENST00000269162:exon10:c.680-1G>A;ENST00000423027:exon9:c.680-1G>A;ENST00000585642:exon8:c.497-1G>A;ENST00000590228:exon7:c.392-1G>A;ENST00000602628:exon5:c.59-1G>A)	.	.	0.999979835668943	0.914
18	11868541	G	C	18	11868542	y	y	splicing	GNAL(NM_182978:exon9:c.911-1G>C;NM_001142339:exon10:c.680-1G>C;NM_001261443:exon10:c.680-1G>C;NM_001261444:exon5:c.59-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.911-1G>C;ENST00000535121:exon10:c.680-1G>C;ENST00000269162:exon10:c.680-1G>C;ENST00000423027:exon9:c.680-1G>C;ENST00000585642:exon8:c.497-1G>C;ENST00000590228:exon7:c.392-1G>C;ENST00000602628:exon5:c.59-1G>C)	.	.	0.99997913229619	0.914
18	11868541	G	T	18	11868542	y	y	splicing	GNAL(NM_182978:exon9:c.911-1G>T;NM_001142339:exon10:c.680-1G>T;NM_001261443:exon10:c.680-1G>T;NM_001261444:exon5:c.59-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.911-1G>T;ENST00000535121:exon10:c.680-1G>T;ENST00000269162:exon10:c.680-1G>T;ENST00000423027:exon9:c.680-1G>T;ENST00000585642:exon8:c.497-1G>T;ENST00000590228:exon7:c.392-1G>T;ENST00000602628:exon5:c.59-1G>T)	.	.	0.999979835668943	0.912
18	11868542	A	C	18	11868543	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.A911C:p.D304A;GNAL:NM_001261443:exon10:c.A680C:p.D227A;GNAL:NM_001261444:exon5:c.A59C:p.D20A;GNAL:NM_001142339:exon10:c.A680C:p.D227A;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.A680C:p.D227A;ENSG00000141404:ENST00000602628:exon5:c.A59C:p.D20A;ENSG00000141404:ENST00000535121:exon10:c.A680C:p.D227A;ENSG00000141404:ENST00000590228:exon7:c.A392C:p.D131A;ENSG00000141404:ENST00000334049:exon9:c.A911C:p.D304A;ENSG00000141404:ENST00000585642:exon8:c.A497C:p.D166A;ENSG00000141404:ENST00000269162:exon10:c.A680C:p.D227A;	0.777819183583488	0.562
18	11868542	A	G	18	11868543	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.A911G:p.D304G;GNAL:NM_001261443:exon10:c.A680G:p.D227G;GNAL:NM_001261444:exon5:c.A59G:p.D20G;GNAL:NM_001142339:exon10:c.A680G:p.D227G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.A680G:p.D227G;ENSG00000141404:ENST00000602628:exon5:c.A59G:p.D20G;ENSG00000141404:ENST00000535121:exon10:c.A680G:p.D227G;ENSG00000141404:ENST00000590228:exon7:c.A392G:p.D131G;ENSG00000141404:ENST00000334049:exon9:c.A911G:p.D304G;ENSG00000141404:ENST00000585642:exon8:c.A497G:p.D166G;ENSG00000141404:ENST00000269162:exon10:c.A680G:p.D227G;	6.32836653480458E-4	0.048
18	11868542	A	T	18	11868543	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.A911T:p.D304V;GNAL:NM_001261443:exon10:c.A680T:p.D227V;GNAL:NM_001261444:exon5:c.A59T:p.D20V;GNAL:NM_001142339:exon10:c.A680T:p.D227V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.A680T:p.D227V;ENSG00000141404:ENST00000602628:exon5:c.A59T:p.D20V;ENSG00000141404:ENST00000535121:exon10:c.A680T:p.D227V;ENSG00000141404:ENST00000590228:exon7:c.A392T:p.D131V;ENSG00000141404:ENST00000334049:exon9:c.A911T:p.D304V;ENSG00000141404:ENST00000585642:exon8:c.A497T:p.D166V;ENSG00000141404:ENST00000269162:exon10:c.A680T:p.D227V;	0.708900138116967	0.508
18	11868543	T	A	18	11868544	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.T912A:p.D304E;GNAL:NM_001261443:exon10:c.T681A:p.D227E;GNAL:NM_001261444:exon5:c.T60A:p.D20E;GNAL:NM_001142339:exon10:c.T681A:p.D227E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.T681A:p.D227E;ENSG00000141404:ENST00000602628:exon5:c.T60A:p.D20E;ENSG00000141404:ENST00000535121:exon10:c.T681A:p.D227E;ENSG00000141404:ENST00000590228:exon7:c.T393A:p.D131E;ENSG00000141404:ENST00000334049:exon9:c.T912A:p.D304E;ENSG00000141404:ENST00000585642:exon8:c.T498A:p.D166E;ENSG00000141404:ENST00000269162:exon10:c.T681A:p.D227E;	0.00852783251428182	0.104
18	11868543	T	C	18	11868544	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon9:c.T912C:p.D304D;GNAL:NM_001261443:exon10:c.T681C:p.D227D;GNAL:NM_001261444:exon5:c.T60C:p.D20D;GNAL:NM_001142339:exon10:c.T681C:p.D227D;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.T681C:p.D227D;ENSG00000141404:ENST00000602628:exon5:c.T60C:p.D20D;ENSG00000141404:ENST00000535121:exon10:c.T681C:p.D227D;ENSG00000141404:ENST00000590228:exon7:c.T393C:p.D131D;ENSG00000141404:ENST00000334049:exon9:c.T912C:p.D304D;ENSG00000141404:ENST00000585642:exon8:c.T498C:p.D166D;ENSG00000141404:ENST00000269162:exon10:c.T681C:p.D227D;	5.03904729003102E-4	0.226
18	11868543	T	G	18	11868544	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.T912G:p.D304E;GNAL:NM_001261443:exon10:c.T681G:p.D227E;GNAL:NM_001261444:exon5:c.T60G:p.D20E;GNAL:NM_001142339:exon10:c.T681G:p.D227E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.T681G:p.D227E;ENSG00000141404:ENST00000602628:exon5:c.T60G:p.D20E;ENSG00000141404:ENST00000535121:exon10:c.T681G:p.D227E;ENSG00000141404:ENST00000590228:exon7:c.T393G:p.D131E;ENSG00000141404:ENST00000334049:exon9:c.T912G:p.D304E;ENSG00000141404:ENST00000585642:exon8:c.T498G:p.D166E;ENSG00000141404:ENST00000269162:exon10:c.T681G:p.D227E;	0.00347864222102945	0.092
18	11868660	C	A	18	11868661	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.C1029A:p.N343K;GNAL:NM_001261443:exon10:c.C798A:p.N266K;GNAL:NM_001261444:exon5:c.C177A:p.N59K;GNAL:NM_001142339:exon10:c.C798A:p.N266K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.C798A:p.N266K;ENSG00000141404:ENST00000602628:exon5:c.C177A:p.N59K;ENSG00000141404:ENST00000535121:exon10:c.C798A:p.N266K;ENSG00000141404:ENST00000334049:exon9:c.C1029A:p.N343K;ENSG00000141404:ENST00000269162:exon10:c.C798A:p.N266K;	0.954035889436925	0.762
18	11868660	C	G	18	11868661	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.C1029G:p.N343K;GNAL:NM_001261443:exon10:c.C798G:p.N266K;GNAL:NM_001261444:exon5:c.C177G:p.N59K;GNAL:NM_001142339:exon10:c.C798G:p.N266K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.C798G:p.N266K;ENSG00000141404:ENST00000602628:exon5:c.C177G:p.N59K;ENSG00000141404:ENST00000535121:exon10:c.C798G:p.N266K;ENSG00000141404:ENST00000334049:exon9:c.C1029G:p.N343K;ENSG00000141404:ENST00000269162:exon10:c.C798G:p.N266K;	0.983601252650791	0.696
18	11868660	C	T	18	11868661	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon9:c.C1029T:p.N343N;GNAL:NM_001261443:exon10:c.C798T:p.N266N;GNAL:NM_001261444:exon5:c.C177T:p.N59N;GNAL:NM_001142339:exon10:c.C798T:p.N266N;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.C798T:p.N266N;ENSG00000141404:ENST00000602628:exon5:c.C177T:p.N59N;ENSG00000141404:ENST00000535121:exon10:c.C798T:p.N266N;ENSG00000141404:ENST00000334049:exon9:c.C1029T:p.N343N;ENSG00000141404:ENST00000269162:exon10:c.C798T:p.N266N;	0.998811868170194	0.918
18	11868661	A	C	18	11868662	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon9:c.A1030C:p.R344R;GNAL:NM_001261443:exon10:c.A799C:p.R267R;GNAL:NM_001261444:exon5:c.A178C:p.R60R;GNAL:NM_001142339:exon10:c.A799C:p.R267R;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.A799C:p.R267R;ENSG00000141404:ENST00000602628:exon5:c.A178C:p.R60R;ENSG00000141404:ENST00000535121:exon10:c.A799C:p.R267R;ENSG00000141404:ENST00000334049:exon9:c.A1030C:p.R344R;ENSG00000141404:ENST00000269162:exon10:c.A799C:p.R267R;	0.99992211107251	0.992
18	11868661	A	G	18	11868662	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.A1030G:p.R344G;GNAL:NM_001261443:exon10:c.A799G:p.R267G;GNAL:NM_001261444:exon5:c.A178G:p.R60G;GNAL:NM_001142339:exon10:c.A799G:p.R267G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.A799G:p.R267G;ENSG00000141404:ENST00000602628:exon5:c.A178G:p.R60G;ENSG00000141404:ENST00000535121:exon10:c.A799G:p.R267G;ENSG00000141404:ENST00000334049:exon9:c.A1030G:p.R344G;ENSG00000141404:ENST00000269162:exon10:c.A799G:p.R267G;	0.999976862656987	0.996
18	11868661	A	T	18	11868662	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.A1030T:p.R344W;GNAL:NM_001261443:exon10:c.A799T:p.R267W;GNAL:NM_001261444:exon5:c.A178T:p.R60W;GNAL:NM_001142339:exon10:c.A799T:p.R267W;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.A799T:p.R267W;ENSG00000141404:ENST00000602628:exon5:c.A178T:p.R60W;ENSG00000141404:ENST00000535121:exon10:c.A799T:p.R267W;ENSG00000141404:ENST00000334049:exon9:c.A1030T:p.R344W;ENSG00000141404:ENST00000269162:exon10:c.A799T:p.R267W;	0.999979787756726	0.996
18	11868662	G	A	18	11868663	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.G1031A:p.R344K;GNAL:NM_001261443:exon10:c.G800A:p.R267K;GNAL:NM_001261444:exon5:c.G179A:p.R60K;GNAL:NM_001142339:exon10:c.G800A:p.R267K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.G800A:p.R267K;ENSG00000141404:ENST00000602628:exon5:c.G179A:p.R60K;ENSG00000141404:ENST00000535121:exon10:c.G800A:p.R267K;ENSG00000141404:ENST00000334049:exon9:c.G1031A:p.R344K;ENSG00000141404:ENST00000269162:exon10:c.G800A:p.R267K;	0.999994486217367	1.0
18	11868662	G	C	18	11868663	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.G1031C:p.R344T;GNAL:NM_001261443:exon10:c.G800C:p.R267T;GNAL:NM_001261444:exon5:c.G179C:p.R60T;GNAL:NM_001142339:exon10:c.G800C:p.R267T;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.G800C:p.R267T;ENSG00000141404:ENST00000602628:exon5:c.G179C:p.R60T;ENSG00000141404:ENST00000535121:exon10:c.G800C:p.R267T;ENSG00000141404:ENST00000334049:exon9:c.G1031C:p.R344T;ENSG00000141404:ENST00000269162:exon10:c.G800C:p.R267T;	0.999997610789446	1.0
18	11868662	G	T	18	11868663	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon9:c.G1031T:p.R344M;GNAL:NM_001261443:exon10:c.G800T:p.R267M;GNAL:NM_001261444:exon5:c.G179T:p.R60M;GNAL:NM_001142339:exon10:c.G800T:p.R267M;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon9:c.G800T:p.R267M;ENSG00000141404:ENST00000602628:exon5:c.G179T:p.R60M;ENSG00000141404:ENST00000535121:exon10:c.G800T:p.R267M;ENSG00000141404:ENST00000334049:exon9:c.G1031T:p.R344M;ENSG00000141404:ENST00000269162:exon10:c.G800T:p.R267M;	0.999992085169995	0.988
18	11868663	G	A	18	11868664	y	y	splicing	GNAL(NM_182978:exon9:c.1031+1G>A;NM_001142339:exon10:c.800+1G>A;NM_001261443:exon10:c.800+1G>A;NM_001261444:exon5:c.179+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.1031+1G>A;ENST00000535121:exon10:c.800+1G>A;ENST00000269162:exon10:c.800+1G>A;ENST00000423027:exon9:c.800+1G>A;ENST00000602628:exon5:c.179+1G>A)	.	.	0.999990361384395	0.944
18	11868663	G	C	18	11868664	y	y	splicing	GNAL(NM_182978:exon9:c.1031+1G>C;NM_001142339:exon10:c.800+1G>C;NM_001261443:exon10:c.800+1G>C;NM_001261444:exon5:c.179+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.1031+1G>C;ENST00000535121:exon10:c.800+1G>C;ENST00000269162:exon10:c.800+1G>C;ENST00000423027:exon9:c.800+1G>C;ENST00000602628:exon5:c.179+1G>C)	.	.	0.999990361384395	0.944
18	11868663	G	T	18	11868664	y	y	splicing	GNAL(NM_182978:exon9:c.1031+1G>T;NM_001142339:exon10:c.800+1G>T;NM_001261443:exon10:c.800+1G>T;NM_001261444:exon5:c.179+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.1031+1G>T;ENST00000535121:exon10:c.800+1G>T;ENST00000269162:exon10:c.800+1G>T;ENST00000423027:exon9:c.800+1G>T;ENST00000602628:exon5:c.179+1G>T)	.	.	0.999990361384395	0.944
18	11868664	T	A	18	11868665	y	y	splicing	GNAL(NM_182978:exon9:c.1031+2T>A;NM_001142339:exon10:c.800+2T>A;NM_001261443:exon10:c.800+2T>A;NM_001261444:exon5:c.179+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.1031+2T>A;ENST00000535121:exon10:c.800+2T>A;ENST00000269162:exon10:c.800+2T>A;ENST00000423027:exon9:c.800+2T>A;ENST00000602628:exon5:c.179+2T>A)	.	.	0.999988247793601	0.938
18	11868664	T	C	18	11868665	y	y	splicing	GNAL(NM_182978:exon9:c.1031+2T>C;NM_001142339:exon10:c.800+2T>C;NM_001261443:exon10:c.800+2T>C;NM_001261444:exon5:c.179+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.1031+2T>C;ENST00000535121:exon10:c.800+2T>C;ENST00000269162:exon10:c.800+2T>C;ENST00000423027:exon9:c.800+2T>C;ENST00000602628:exon5:c.179+2T>C)	.	.	0.999929727175276	0.866
18	11868664	T	G	18	11868665	y	y	splicing	GNAL(NM_182978:exon9:c.1031+2T>G;NM_001142339:exon10:c.800+2T>G;NM_001261443:exon10:c.800+2T>G;NM_001261444:exon5:c.179+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon9:c.1031+2T>G;ENST00000535121:exon10:c.800+2T>G;ENST00000269162:exon10:c.800+2T>G;ENST00000423027:exon9:c.800+2T>G;ENST00000602628:exon5:c.179+2T>G)	.	.	0.999988247793601	0.936
18	11868665	G	A	18	11868666	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.35676925030016E-5	0.076
18	11868665	G	C	18	11868666	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.175380225467077	0.416
18	11868665	G	T	18	11868666	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.741853103554977	0.456
18	11868666	A	C	18	11868667	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.994867219110186	0.812
18	11868666	A	G	18	11868667	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999510637130989	0.95
18	11868666	A	T	18	11868667	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999337044227134	0.936
18	11868667	C	A	18	11868668	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.92991159807018E-5	0.004
18	11868667	C	G	18	11868668	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.70211868484592E-5	0.024
18	11868667	C	T	18	11868668	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.98974076771576E-4	0.244
18	11868668	A	C	18	11868669	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.75402695148891E-5	0.05
18	11868668	A	G	18	11868669	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.43438999790389E-4	0.008
18	11868668	A	T	18	11868669	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.65752153340947E-5	0.012
18	11868669	A	C	18	11868670	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.90886144915184E-4	0.02
18	11868669	A	G	18	11868670	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.78333585035713E-4	0.034
18	11868669	A	T	18	11868670	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.6468135012908E-4	0.138
18	11868670	A	C	18	11868671	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.59604330868743E-4	0.008
18	11868670	A	G	18	11868671	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.36748265336736E-4	0.004
18	11868670	A	T	18	11868671	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00122534094195049	0.01
18	11872255	T	A	18	11872256	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.78447205369084E-4	0.046
18	11872255	T	C	18	11872256	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.22923739186222E-4	0.012
18	11872255	T	G	18	11872256	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.59073804773129E-4	0.052
18	11872256	T	A	18	11872257	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.01417703778529E-4	0.106
18	11872256	T	C	18	11872257	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.30404706384318E-5	0.024
18	11872256	T	G	18	11872257	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.60003075576903E-5	0.066
18	11872257	C	A	18	11872258	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.39671620850048E-4	0.042
18	11872257	C	G	18	11872258	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.92681576652582E-4	0.034
18	11872257	C	T	18	11872258	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.22154884579895E-5	0.002
18	11872258	C	A	18	11872259	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.13179747065604E-4	0.036
18	11872258	C	G	18	11872259	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.33014037337594E-4	0.024
18	11872258	C	T	18	11872259	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.4042312583662E-4	0.012
18	11872259	T	A	18	11872260	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.6308166397693E-4	0.04
18	11872259	T	C	18	11872260	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.07264695236675E-4	0.002
18	11872259	T	G	18	11872260	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.88571202441571E-4	0.032
18	11872260	T	A	18	11872261	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.02838567112182E-4	0.018
18	11872260	T	C	18	11872261	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.06679340938682E-4	0.0
18	11872260	T	G	18	11872261	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.34540621246906E-4	0.014
18	11872261	T	A	18	11872262	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.38786258965343E-4	0.058
18	11872261	T	C	18	11872262	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.59505362790745E-4	0.0
18	11872261	T	G	18	11872262	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.0784172533473E-4	0.072
18	11872262	T	A	18	11872263	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.025659322646993	0.41
18	11872262	T	C	18	11872263	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.015531066323749	0.146
18	11872262	T	G	18	11872263	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0125292641949224	0.416
18	11872263	T	A	18	11872264	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.32249089006554E-5	0.004
18	11872263	T	C	18	11872264	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.70594139795477E-5	0.0
18	11872263	T	G	18	11872264	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.94103877270234E-5	0.002
18	11872264	T	A	18	11872265	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.14998939742666E-4	0.026
18	11872264	T	C	18	11872265	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.55769118762976E-5	0.002
18	11872264	T	G	18	11872265	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0133488242056254	0.348
18	11872265	A	C	18	11872266	y	y	splicing	GNAL(NM_182978:exon10:c.1032-2A>C;NM_001142339:exon11:c.801-2A>C;NM_001261443:exon11:c.801-2A>C;NM_001261444:exon6:c.180-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1032-2A>C;ENST00000535121:exon11:c.801-2A>C;ENST00000269162:exon11:c.801-2A>C;ENST00000423027:exon10:c.801-2A>C;ENST00000602628:exon6:c.180-2A>C)	.	.	0.999988247793601	0.928
18	11872265	A	G	18	11872266	y	y	splicing	GNAL(NM_182978:exon10:c.1032-2A>G;NM_001142339:exon11:c.801-2A>G;NM_001261443:exon11:c.801-2A>G;NM_001261444:exon6:c.180-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1032-2A>G;ENST00000535121:exon11:c.801-2A>G;ENST00000269162:exon11:c.801-2A>G;ENST00000423027:exon10:c.801-2A>G;ENST00000602628:exon6:c.180-2A>G)	.	.	0.999988247793601	0.928
18	11872265	A	T	18	11872266	y	y	splicing	GNAL(NM_182978:exon10:c.1032-2A>T;NM_001142339:exon11:c.801-2A>T;NM_001261443:exon11:c.801-2A>T;NM_001261444:exon6:c.180-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1032-2A>T;ENST00000535121:exon11:c.801-2A>T;ENST00000269162:exon11:c.801-2A>T;ENST00000423027:exon10:c.801-2A>T;ENST00000602628:exon6:c.180-2A>T)	.	.	0.999988247793601	0.928
18	11872266	G	A	18	11872267	y	y	splicing	GNAL(NM_182978:exon10:c.1032-1G>A;NM_001142339:exon11:c.801-1G>A;NM_001261443:exon11:c.801-1G>A;NM_001261444:exon6:c.180-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1032-1G>A;ENST00000535121:exon11:c.801-1G>A;ENST00000269162:exon11:c.801-1G>A;ENST00000423027:exon10:c.801-1G>A;ENST00000602628:exon6:c.180-1G>A)	.	.	0.999989072007339	0.932
18	11872266	G	C	18	11872267	y	y	splicing	GNAL(NM_182978:exon10:c.1032-1G>C;NM_001142339:exon11:c.801-1G>C;NM_001261443:exon11:c.801-1G>C;NM_001261444:exon6:c.180-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1032-1G>C;ENST00000535121:exon11:c.801-1G>C;ENST00000269162:exon11:c.801-1G>C;ENST00000423027:exon10:c.801-1G>C;ENST00000602628:exon6:c.180-1G>C)	.	.	0.999989072007339	0.932
18	11872266	G	T	18	11872267	y	y	splicing	GNAL(NM_182978:exon10:c.1032-1G>T;NM_001142339:exon11:c.801-1G>T;NM_001261443:exon11:c.801-1G>T;NM_001261444:exon6:c.180-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1032-1G>T;ENST00000535121:exon11:c.801-1G>T;ENST00000269162:exon11:c.801-1G>T;ENST00000423027:exon10:c.801-1G>T;ENST00000602628:exon6:c.180-1G>T)	.	.	0.999989072007339	0.932
18	11872267	G	A	18	11872268	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon10:c.G1032A:p.R344R;GNAL:NM_001261443:exon11:c.G801A:p.R267R;GNAL:NM_001261444:exon6:c.G180A:p.R60R;GNAL:NM_001142339:exon11:c.G801A:p.R267R;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.G801A:p.R267R;ENSG00000141404:ENST00000602628:exon6:c.G180A:p.R60R;ENSG00000141404:ENST00000535121:exon11:c.G801A:p.R267R;ENSG00000141404:ENST00000334049:exon10:c.G1032A:p.R344R;ENSG00000141404:ENST00000269162:exon11:c.G801A:p.R267R;	0.108545063178496	0.32
18	11872267	G	C	18	11872268	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.G1032C:p.R344S;GNAL:NM_001261443:exon11:c.G801C:p.R267S;GNAL:NM_001261444:exon6:c.G180C:p.R60S;GNAL:NM_001142339:exon11:c.G801C:p.R267S;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.G801C:p.R267S;ENSG00000141404:ENST00000602628:exon6:c.G180C:p.R60S;ENSG00000141404:ENST00000535121:exon11:c.G801C:p.R267S;ENSG00000141404:ENST00000334049:exon10:c.G1032C:p.R344S;ENSG00000141404:ENST00000269162:exon11:c.G801C:p.R267S;	0.950695903054202	0.67
18	11872267	G	T	18	11872268	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.G1032T:p.R344S;GNAL:NM_001261443:exon11:c.G801T:p.R267S;GNAL:NM_001261444:exon6:c.G180T:p.R60S;GNAL:NM_001142339:exon11:c.G801T:p.R267S;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.G801T:p.R267S;ENSG00000141404:ENST00000602628:exon6:c.G180T:p.R60S;ENSG00000141404:ENST00000535121:exon11:c.G801T:p.R267S;ENSG00000141404:ENST00000334049:exon10:c.G1032T:p.R344S;ENSG00000141404:ENST00000269162:exon11:c.G801T:p.R267S;	0.972229385836668	0.742
18	11872268	T	A	18	11872269	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.T1033A:p.W345R;GNAL:NM_001261443:exon11:c.T802A:p.W268R;GNAL:NM_001261444:exon6:c.T181A:p.W61R;GNAL:NM_001142339:exon11:c.T802A:p.W268R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.T802A:p.W268R;ENSG00000141404:ENST00000602628:exon6:c.T181A:p.W61R;ENSG00000141404:ENST00000535121:exon11:c.T802A:p.W268R;ENSG00000141404:ENST00000334049:exon10:c.T1033A:p.W345R;ENSG00000141404:ENST00000269162:exon11:c.T802A:p.W268R;	0.192866780582603	0.364
18	11872268	T	C	18	11872269	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.T1033C:p.W345R;GNAL:NM_001261443:exon11:c.T802C:p.W268R;GNAL:NM_001261444:exon6:c.T181C:p.W61R;GNAL:NM_001142339:exon11:c.T802C:p.W268R;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.T802C:p.W268R;ENSG00000141404:ENST00000602628:exon6:c.T181C:p.W61R;ENSG00000141404:ENST00000535121:exon11:c.T802C:p.W268R;ENSG00000141404:ENST00000334049:exon10:c.T1033C:p.W345R;ENSG00000141404:ENST00000269162:exon11:c.T802C:p.W268R;	0.210573528540557	0.364
18	11872268	T	G	18	11872269	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.T1033G:p.W345G;GNAL:NM_001261443:exon11:c.T802G:p.W268G;GNAL:NM_001261444:exon6:c.T181G:p.W61G;GNAL:NM_001142339:exon11:c.T802G:p.W268G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.T802G:p.W268G;ENSG00000141404:ENST00000602628:exon6:c.T181G:p.W61G;ENSG00000141404:ENST00000535121:exon11:c.T802G:p.W268G;ENSG00000141404:ENST00000334049:exon10:c.T1033G:p.W345G;ENSG00000141404:ENST00000269162:exon11:c.T802G:p.W268G;	0.20101611314034	0.398
18	11872395	A	C	18	11872396	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.A1160C:p.D387A;GNAL:NM_001261443:exon11:c.A929C:p.D310A;GNAL:NM_001261444:exon6:c.A308C:p.D103A;GNAL:NM_001142339:exon11:c.A929C:p.D310A;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.A929C:p.D310A;ENSG00000141404:ENST00000602628:exon6:c.A308C:p.D103A;ENSG00000141404:ENST00000535121:exon11:c.A929C:p.D310A;ENSG00000141404:ENST00000334049:exon10:c.A1160C:p.D387A;ENSG00000141404:ENST00000269162:exon11:c.A929C:p.D310A;	0.547755149692345	0.524
18	11872395	A	G	18	11872396	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.A1160G:p.D387G;GNAL:NM_001261443:exon11:c.A929G:p.D310G;GNAL:NM_001261444:exon6:c.A308G:p.D103G;GNAL:NM_001142339:exon11:c.A929G:p.D310G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.A929G:p.D310G;ENSG00000141404:ENST00000602628:exon6:c.A308G:p.D103G;ENSG00000141404:ENST00000535121:exon11:c.A929G:p.D310G;ENSG00000141404:ENST00000334049:exon10:c.A1160G:p.D387G;ENSG00000141404:ENST00000269162:exon11:c.A929G:p.D310G;	0.529937670341735	0.394
18	11872395	A	T	18	11872396	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.A1160T:p.D387V;GNAL:NM_001261443:exon11:c.A929T:p.D310V;GNAL:NM_001261444:exon6:c.A308T:p.D103V;GNAL:NM_001142339:exon11:c.A929T:p.D310V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.A929T:p.D310V;ENSG00000141404:ENST00000602628:exon6:c.A308T:p.D103V;ENSG00000141404:ENST00000535121:exon11:c.A929T:p.D310V;ENSG00000141404:ENST00000334049:exon10:c.A1160T:p.D387V;ENSG00000141404:ENST00000269162:exon11:c.A929T:p.D310V;	0.973947895819274	0.476
18	11872396	C	A	18	11872397	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.C1161A:p.D387E;GNAL:NM_001261443:exon11:c.C930A:p.D310E;GNAL:NM_001261444:exon6:c.C309A:p.D103E;GNAL:NM_001142339:exon11:c.C930A:p.D310E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.C930A:p.D310E;ENSG00000141404:ENST00000602628:exon6:c.C309A:p.D103E;ENSG00000141404:ENST00000535121:exon11:c.C930A:p.D310E;ENSG00000141404:ENST00000334049:exon10:c.C1161A:p.D387E;ENSG00000141404:ENST00000269162:exon11:c.C930A:p.D310E;	9.43382277932505E-5	0.068
18	11872396	C	G	18	11872397	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.C1161G:p.D387E;GNAL:NM_001261443:exon11:c.C930G:p.D310E;GNAL:NM_001261444:exon6:c.C309G:p.D103E;GNAL:NM_001142339:exon11:c.C930G:p.D310E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.C930G:p.D310E;ENSG00000141404:ENST00000602628:exon6:c.C309G:p.D103E;ENSG00000141404:ENST00000535121:exon11:c.C930G:p.D310E;ENSG00000141404:ENST00000334049:exon10:c.C1161G:p.D387E;ENSG00000141404:ENST00000269162:exon11:c.C930G:p.D310E;	3.22047909069699E-4	0.014
18	11872396	C	T	18	11872397	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon10:c.C1161T:p.D387D;GNAL:NM_001261443:exon11:c.C930T:p.D310D;GNAL:NM_001261444:exon6:c.C309T:p.D103D;GNAL:NM_001142339:exon11:c.C930T:p.D310D;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.C930T:p.D310D;ENSG00000141404:ENST00000602628:exon6:c.C309T:p.D103D;ENSG00000141404:ENST00000535121:exon11:c.C930T:p.D310D;ENSG00000141404:ENST00000334049:exon10:c.C1161T:p.D387D;ENSG00000141404:ENST00000269162:exon11:c.C930T:p.D310D;	4.51319706538752E-4	0.042
18	11872397	G	A	18	11872398	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.G1162A:p.A388T;GNAL:NM_001261443:exon11:c.G931A:p.A311T;GNAL:NM_001261444:exon6:c.G310A:p.A104T;GNAL:NM_001142339:exon11:c.G931A:p.A311T;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.G931A:p.A311T;ENSG00000141404:ENST00000602628:exon6:c.G310A:p.A104T;ENSG00000141404:ENST00000535121:exon11:c.G931A:p.A311T;ENSG00000141404:ENST00000334049:exon10:c.G1162A:p.A388T;ENSG00000141404:ENST00000269162:exon11:c.G931A:p.A311T;	0.999962040250115	1.0
18	11872397	G	C	18	11872398	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.G1162C:p.A388P;GNAL:NM_001261443:exon11:c.G931C:p.A311P;GNAL:NM_001261444:exon6:c.G310C:p.A104P;GNAL:NM_001142339:exon11:c.G931C:p.A311P;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.G931C:p.A311P;ENSG00000141404:ENST00000602628:exon6:c.G310C:p.A104P;ENSG00000141404:ENST00000535121:exon11:c.G931C:p.A311P;ENSG00000141404:ENST00000334049:exon10:c.G1162C:p.A388P;ENSG00000141404:ENST00000269162:exon11:c.G931C:p.A311P;	0.999996025866693	0.998
18	11872397	G	T	18	11872398	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon10:c.G1162T:p.A388S;GNAL:NM_001261443:exon11:c.G931T:p.A311S;GNAL:NM_001261444:exon6:c.G310T:p.A104S;GNAL:NM_001142339:exon11:c.G931T:p.A311S;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon10:c.G931T:p.A311S;ENSG00000141404:ENST00000602628:exon6:c.G310T:p.A104S;ENSG00000141404:ENST00000535121:exon11:c.G931T:p.A311S;ENSG00000141404:ENST00000334049:exon10:c.G1162T:p.A388S;ENSG00000141404:ENST00000269162:exon11:c.G931T:p.A311S;	0.999949824971886	0.984
18	11872398	G	A	18	11872399	y	y	splicing	GNAL(NM_182978:exon10:c.1162+1G>A;NM_001142339:exon11:c.931+1G>A;NM_001261443:exon11:c.931+1G>A;NM_001261444:exon6:c.310+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1162+1G>A;ENST00000535121:exon11:c.931+1G>A;ENST00000269162:exon11:c.931+1G>A;ENST00000423027:exon10:c.931+1G>A;ENST00000602628:exon6:c.310+1G>A;ENST00000586926:exon1:c.98+1G>A)	.	.	0.999989072007339	0.934
18	11872398	G	C	18	11872399	y	y	splicing	GNAL(NM_182978:exon10:c.1162+1G>C;NM_001142339:exon11:c.931+1G>C;NM_001261443:exon11:c.931+1G>C;NM_001261444:exon6:c.310+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1162+1G>C;ENST00000535121:exon11:c.931+1G>C;ENST00000269162:exon11:c.931+1G>C;ENST00000423027:exon10:c.931+1G>C;ENST00000602628:exon6:c.310+1G>C;ENST00000586926:exon1:c.98+1G>C)	.	.	0.999989072007339	0.934
18	11872398	G	T	18	11872399	y	y	splicing	GNAL(NM_182978:exon10:c.1162+1G>T;NM_001142339:exon11:c.931+1G>T;NM_001261443:exon11:c.931+1G>T;NM_001261444:exon6:c.310+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1162+1G>T;ENST00000535121:exon11:c.931+1G>T;ENST00000269162:exon11:c.931+1G>T;ENST00000423027:exon10:c.931+1G>T;ENST00000602628:exon6:c.310+1G>T;ENST00000586926:exon1:c.98+1G>T)	.	.	0.999989072007339	0.934
18	11872399	T	A	18	11872400	y	y	splicing	GNAL(NM_182978:exon10:c.1162+2T>A;NM_001142339:exon11:c.931+2T>A;NM_001261443:exon11:c.931+2T>A;NM_001261444:exon6:c.310+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1162+2T>A;ENST00000535121:exon11:c.931+2T>A;ENST00000269162:exon11:c.931+2T>A;ENST00000423027:exon10:c.931+2T>A;ENST00000602628:exon6:c.310+2T>A;ENST00000586926:exon1:c.98+2T>A)	.	.	0.999988247793601	0.93
18	11872399	T	C	18	11872400	y	y	splicing	GNAL(NM_182978:exon10:c.1162+2T>C;NM_001142339:exon11:c.931+2T>C;NM_001261443:exon11:c.931+2T>C;NM_001261444:exon6:c.310+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1162+2T>C;ENST00000535121:exon11:c.931+2T>C;ENST00000269162:exon11:c.931+2T>C;ENST00000423027:exon10:c.931+2T>C;ENST00000602628:exon6:c.310+2T>C;ENST00000586926:exon1:c.98+2T>C)	.	.	0.999897703382408	0.882
18	11872399	T	G	18	11872400	y	y	splicing	GNAL(NM_182978:exon10:c.1162+2T>G;NM_001142339:exon11:c.931+2T>G;NM_001261443:exon11:c.931+2T>G;NM_001261444:exon6:c.310+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon10:c.1162+2T>G;ENST00000535121:exon11:c.931+2T>G;ENST00000269162:exon11:c.931+2T>G;ENST00000423027:exon10:c.931+2T>G;ENST00000602628:exon6:c.310+2T>G;ENST00000586926:exon1:c.98+2T>G)	.	.	0.999988247793601	0.93
18	11872400	A	C	18	11872401	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.991368385957931	0.844
18	11872400	A	G	18	11872401	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0632267152487738	0.272
18	11872400	A	T	18	11872401	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.995341936443421	0.898
18	11872401	A	C	18	11872402	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.966620098777422	0.754
18	11872401	A	G	18	11872402	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.930833898329366	0.706
18	11872401	A	T	18	11872402	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.943641912693584	0.676
18	11872402	G	A	18	11872403	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999716865094065	0.954
18	11872402	G	C	18	11872403	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999857674834447	0.954
18	11872402	G	T	18	11872403	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999767719609403	0.85
18	11872403	A	C	18	11872404	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.90728473205063E-4	0.022
18	11872403	A	G	18	11872404	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.97051756734824E-5	0.006
18	11872403	A	T	18	11872404	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.91503829048103E-5	0.006
18	11872404	T	A	18	11872405	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.8315455018364E-4	0.076
18	11872404	T	C	18	11872405	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.21125209425887E-4	0.022
18	11872404	T	G	18	11872405	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.36734610887901E-4	0.02
18	11872405	T	A	18	11872406	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.42620275178874E-4	0.0
18	11872405	T	C	18	11872406	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.42620275178874E-4	0.0
18	11872405	T	G	18	11872406	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.42620275178874E-4	0.002
18	11874038	T	A	18	11874039	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.33019643212499E-5	0.002
18	11874038	T	C	18	11874039	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.33019643212499E-5	0.002
18	11874038	T	G	18	11874039	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.33019643212499E-5	0.002
18	11874039	T	A	18	11874040	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.3330395574997E-5	0.002
18	11874039	T	C	18	11874040	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.69291991901352E-5	0.002
18	11874039	T	G	18	11874040	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.69291991901352E-5	0.002
18	11874040	A	C	18	11874041	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.33019643212499E-5	0.002
18	11874040	A	G	18	11874041	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.33019643212499E-5	0.002
18	11874040	A	T	18	11874041	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.33019643212499E-5	0.002
18	11874041	C	A	18	11874042	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.73196147837547E-5	0.0
18	11874041	C	G	18	11874042	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.73196147837547E-5	0.0
18	11874041	C	T	18	11874042	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	9.63734018024452E-5	0.0
18	11874042	C	A	18	11874043	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.78674951653264E-5	0.0
18	11874042	C	G	18	11874043	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.63360899965148E-5	0.0
18	11874042	C	T	18	11874043	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.95905533305893E-5	0.0
18	11874043	T	A	18	11874044	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.05808194911997E-5	0.002
18	11874043	T	C	18	11874044	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.05808194911997E-5	0.002
18	11874043	T	G	18	11874044	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.05808194911997E-5	0.002
18	11874044	G	A	18	11874045	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.78864525412067E-5	0.0
18	11874044	G	C	18	11874045	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.78864525412067E-5	0.0
18	11874044	G	T	18	11874045	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.78864525412067E-5	0.0
18	11874045	C	A	18	11874046	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.08739841361144E-4	0.008
18	11874045	C	G	18	11874046	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.69884688945688E-4	0.008
18	11874045	C	T	18	11874046	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.08739841361144E-4	0.006
18	11874046	T	A	18	11874047	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	6.16956973422398E-5	0.002
18	11874046	T	C	18	11874047	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.39444029628577E-5	0.002
18	11874046	T	G	18	11874047	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.39444029628577E-5	0.002
18	11874047	T	A	18	11874048	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.82779041686858E-5	0.002
18	11874047	T	C	18	11874048	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.82779041686858E-5	0.002
18	11874047	T	G	18	11874048	n	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.82779041686858E-5	0.002
18	11874048	A	C	18	11874049	n	y	intronic	GNAL	.	.	splicing	ENSG00000141404(ENST00000586926:exon2:c.99-2A>C)	.	.	3.39444029628577E-5	0.002
18	11874048	A	G	18	11874049	n	y	intronic	GNAL	.	.	splicing	ENSG00000141404(ENST00000586926:exon2:c.99-2A>G)	.	.	3.39444029628577E-5	0.002
18	11874048	A	T	18	11874049	n	y	intronic	GNAL	.	.	splicing	ENSG00000141404(ENST00000586926:exon2:c.99-2A>T)	.	.	6.16956973422398E-5	0.002
18	11874049	G	A	18	11874050	n	y	intronic	GNAL	.	.	splicing	ENSG00000141404(ENST00000586926:exon2:c.99-1G>A)	.	.	1.95735775412773E-5	0.0
18	11874049	G	C	18	11874050	n	y	intronic	GNAL	.	.	splicing	ENSG00000141404(ENST00000586926:exon2:c.99-1G>C)	.	.	1.95735775412773E-5	0.0
18	11874049	G	T	18	11874050	n	y	intronic	GNAL	.	.	splicing	ENSG00000141404(ENST00000586926:exon2:c.99-1G>T)	.	.	1.95735775412773E-5	0.0
18	11874050	G	A	18	11874051	n	y	intronic	GNAL	.	.	exonic	ENSG00000141404	unknown	UNKNOWN	1.69884688945688E-4	0.008
18	11874050	G	C	18	11874051	n	y	intronic	GNAL	.	.	exonic	ENSG00000141404	unknown	UNKNOWN	1.69884688945688E-4	0.006
18	11874050	G	T	18	11874051	n	y	intronic	GNAL	.	.	exonic	ENSG00000141404	unknown	UNKNOWN	1.69884688945688E-4	0.006
18	11874051	A	C	18	11874052	n	y	intronic	GNAL	.	.	exonic	ENSG00000141404	unknown	UNKNOWN	1.70337218186484E-5	0.0
18	11874051	A	G	18	11874052	n	y	intronic	GNAL	.	.	exonic	ENSG00000141404	unknown	UNKNOWN	1.70337218186484E-5	0.0
18	11874051	A	T	18	11874052	n	y	intronic	GNAL	.	.	exonic	ENSG00000141404	unknown	UNKNOWN	1.83797748812033E-5	0.0
18	11876608	T	A	18	11876609	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.335943751534511	0.582
18	11876608	T	C	18	11876609	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00467391334699824	0.052
18	11876608	T	G	18	11876609	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.300215640729055	0.536
18	11876609	C	A	18	11876610	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.72506270736213E-4	0.016
18	11876609	C	G	18	11876610	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.09497885780565E-4	0.022
18	11876609	C	T	18	11876610	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.09980957267372E-5	0.002
18	11876610	A	C	18	11876611	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.24998886817114E-5	0.018
18	11876610	A	G	18	11876611	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.74233601763935E-5	0.004
18	11876610	A	T	18	11876611	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.50659235672884E-5	0.0
18	11876611	T	A	18	11876612	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.778434612892856	0.756
18	11876611	T	C	18	11876612	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00198910712653048	0.068
18	11876611	T	G	18	11876612	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999939649456223	0.974
18	11876612	T	A	18	11876613	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0293733561762154	0.206
18	11876612	T	C	18	11876613	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.42296599627361E-4	0.0
18	11876612	T	G	18	11876613	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0068917912153094	0.206
18	11876613	T	A	18	11876614	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00990231669131113	0.112
18	11876613	T	C	18	11876614	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.77681033049938E-5	0.01
18	11876613	T	G	18	11876614	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00241071875519081	0.014
18	11876614	C	A	18	11876615	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00128166897724306	0.202
18	11876614	C	G	18	11876615	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00623141365562447	0.198
18	11876614	C	T	18	11876615	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.07073877515526E-5	0.002
18	11876615	T	A	18	11876616	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.292450620303075	0.444
18	11876615	T	C	18	11876616	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.96704080526876E-4	0.014
18	11876615	T	G	18	11876616	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.446022125187432	0.362
18	11876616	A	C	18	11876617	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.8472761839783E-5	0.016
18	11876616	A	G	18	11876617	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.06991045157856E-4	0.122
18	11876616	A	T	18	11876617	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.91893050351145E-4	0.018
18	11876617	C	A	18	11876618	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.989015990624416	0.802
18	11876617	C	G	18	11876618	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999853354891	0.972
18	11876617	C	T	18	11876618	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00638310798946705	0.034
18	11876618	A	C	18	11876619	y	y	splicing	GNAL(NM_182978:exon11:c.1163-2A>C;NM_001142339:exon12:c.932-2A>C;NM_001261443:exon12:c.932-2A>C;NM_001261444:exon7:c.311-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1163-2A>C;ENST00000535121:exon12:c.932-2A>C;ENST00000269162:exon12:c.932-2A>C;ENST00000423027:exon11:c.932-2A>C;ENST00000602628:exon7:c.311-2A>C)	.	.	0.999988247793601	0.932
18	11876618	A	G	18	11876619	y	y	splicing	GNAL(NM_182978:exon11:c.1163-2A>G;NM_001142339:exon12:c.932-2A>G;NM_001261443:exon12:c.932-2A>G;NM_001261444:exon7:c.311-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1163-2A>G;ENST00000535121:exon12:c.932-2A>G;ENST00000269162:exon12:c.932-2A>G;ENST00000423027:exon11:c.932-2A>G;ENST00000602628:exon7:c.311-2A>G)	.	.	0.999988247793601	0.932
18	11876618	A	T	18	11876619	y	y	splicing	GNAL(NM_182978:exon11:c.1163-2A>T;NM_001142339:exon12:c.932-2A>T;NM_001261443:exon12:c.932-2A>T;NM_001261444:exon7:c.311-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1163-2A>T;ENST00000535121:exon12:c.932-2A>T;ENST00000269162:exon12:c.932-2A>T;ENST00000423027:exon11:c.932-2A>T;ENST00000602628:exon7:c.311-2A>T)	.	.	0.999988247793601	0.932
18	11876619	G	A	18	11876620	y	y	splicing	GNAL(NM_182978:exon11:c.1163-1G>A;NM_001142339:exon12:c.932-1G>A;NM_001261443:exon12:c.932-1G>A;NM_001261444:exon7:c.311-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1163-1G>A;ENST00000535121:exon12:c.932-1G>A;ENST00000269162:exon12:c.932-1G>A;ENST00000423027:exon11:c.932-1G>A;ENST00000602628:exon7:c.311-1G>A)	.	.	0.999990361384395	0.938
18	11876619	G	C	18	11876620	y	y	splicing	GNAL(NM_182978:exon11:c.1163-1G>C;NM_001142339:exon12:c.932-1G>C;NM_001261443:exon12:c.932-1G>C;NM_001261444:exon7:c.311-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1163-1G>C;ENST00000535121:exon12:c.932-1G>C;ENST00000269162:exon12:c.932-1G>C;ENST00000423027:exon11:c.932-1G>C;ENST00000602628:exon7:c.311-1G>C)	.	.	0.999990361384395	0.938
18	11876619	G	T	18	11876620	y	y	splicing	GNAL(NM_182978:exon11:c.1163-1G>T;NM_001142339:exon12:c.932-1G>T;NM_001261443:exon12:c.932-1G>T;NM_001261444:exon7:c.311-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1163-1G>T;ENST00000535121:exon12:c.932-1G>T;ENST00000269162:exon12:c.932-1G>T;ENST00000423027:exon11:c.932-1G>T;ENST00000602628:exon7:c.311-1G>T)	.	.	0.999990361384395	0.938
18	11876620	C	A	18	11876621	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.C1163A:p.A388E;GNAL:NM_001261443:exon12:c.C932A:p.A311E;GNAL:NM_001261444:exon7:c.C311A:p.A104E;GNAL:NM_001142339:exon12:c.C932A:p.A311E;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.C932A:p.A311E;ENSG00000141404:ENST00000602628:exon7:c.C311A:p.A104E;ENSG00000141404:ENST00000535121:exon12:c.C932A:p.A311E;ENSG00000141404:ENST00000334049:exon11:c.C1163A:p.A388E;ENSG00000141404:ENST00000269162:exon12:c.C932A:p.A311E;	0.973066742689506	0.796
18	11876620	C	G	18	11876621	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.C1163G:p.A388G;GNAL:NM_001261443:exon12:c.C932G:p.A311G;GNAL:NM_001261444:exon7:c.C311G:p.A104G;GNAL:NM_001142339:exon12:c.C932G:p.A311G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.C932G:p.A311G;ENSG00000141404:ENST00000602628:exon7:c.C311G:p.A104G;ENSG00000141404:ENST00000535121:exon12:c.C932G:p.A311G;ENSG00000141404:ENST00000334049:exon11:c.C1163G:p.A388G;ENSG00000141404:ENST00000269162:exon12:c.C932G:p.A311G;	0.980734642431631	0.65
18	11876620	C	T	18	11876621	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.C1163T:p.A388V;GNAL:NM_001261443:exon12:c.C932T:p.A311V;GNAL:NM_001261444:exon7:c.C311T:p.A104V;GNAL:NM_001142339:exon12:c.C932T:p.A311V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.C932T:p.A311V;ENSG00000141404:ENST00000602628:exon7:c.C311T:p.A104V;ENSG00000141404:ENST00000535121:exon12:c.C932T:p.A311V;ENSG00000141404:ENST00000334049:exon11:c.C1163T:p.A388V;ENSG00000141404:ENST00000269162:exon12:c.C932T:p.A311V;	0.996384162479408	0.868
18	11876621	A	C	18	11876622	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon11:c.A1164C:p.A388A;GNAL:NM_001261443:exon12:c.A933C:p.A311A;GNAL:NM_001261444:exon7:c.A312C:p.A104A;GNAL:NM_001142339:exon12:c.A933C:p.A311A;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.A933C:p.A311A;ENSG00000141404:ENST00000602628:exon7:c.A312C:p.A104A;ENSG00000141404:ENST00000535121:exon12:c.A933C:p.A311A;ENSG00000141404:ENST00000334049:exon11:c.A1164C:p.A388A;ENSG00000141404:ENST00000269162:exon12:c.A933C:p.A311A;	1.75955142660916E-4	0.026
18	11876621	A	G	18	11876622	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon11:c.A1164G:p.A388A;GNAL:NM_001261443:exon12:c.A933G:p.A311A;GNAL:NM_001261444:exon7:c.A312G:p.A104A;GNAL:NM_001142339:exon12:c.A933G:p.A311A;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.A933G:p.A311A;ENSG00000141404:ENST00000602628:exon7:c.A312G:p.A104A;ENSG00000141404:ENST00000535121:exon12:c.A933G:p.A311A;ENSG00000141404:ENST00000334049:exon11:c.A1164G:p.A388A;ENSG00000141404:ENST00000269162:exon12:c.A933G:p.A311A;	1.0660281229874E-4	0.022
18	11876621	A	T	18	11876622	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon11:c.A1164T:p.A388A;GNAL:NM_001261443:exon12:c.A933T:p.A311A;GNAL:NM_001261444:exon7:c.A312T:p.A104A;GNAL:NM_001142339:exon12:c.A933T:p.A311A;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.A933T:p.A311A;ENSG00000141404:ENST00000602628:exon7:c.A312T:p.A104A;ENSG00000141404:ENST00000535121:exon12:c.A933T:p.A311A;ENSG00000141404:ENST00000334049:exon11:c.A1164T:p.A388A;ENSG00000141404:ENST00000269162:exon12:c.A933T:p.A311A;	8.6765499714409E-5	0.002
18	11876685	T	A	18	11876686	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.T1228A:p.L410M;GNAL:NM_001261443:exon12:c.T997A:p.L333M;GNAL:NM_001261444:exon7:c.T376A:p.L126M;GNAL:NM_001142339:exon12:c.T997A:p.L333M;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.T997A:p.L333M;ENSG00000141404:ENST00000602628:exon7:c.T376A:p.L126M;ENSG00000141404:ENST00000535121:exon12:c.T997A:p.L333M;ENSG00000141404:ENST00000334049:exon11:c.T1228A:p.L410M;ENSG00000141404:ENST00000269162:exon12:c.T997A:p.L333M;	1.83972206211285E-5	0.0
18	11876685	T	C	18	11876686	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon11:c.T1228C:p.L410L;GNAL:NM_001261443:exon12:c.T997C:p.L333L;GNAL:NM_001261444:exon7:c.T376C:p.L126L;GNAL:NM_001142339:exon12:c.T997C:p.L333L;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.T997C:p.L333L;ENSG00000141404:ENST00000602628:exon7:c.T376C:p.L126L;ENSG00000141404:ENST00000535121:exon12:c.T997C:p.L333L;ENSG00000141404:ENST00000334049:exon11:c.T1228C:p.L410L;ENSG00000141404:ENST00000269162:exon12:c.T997C:p.L333L;	1.84652278608077E-5	0.0
18	11876685	T	G	18	11876686	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.T1228G:p.L410V;GNAL:NM_001261443:exon12:c.T997G:p.L333V;GNAL:NM_001261444:exon7:c.T376G:p.L126V;GNAL:NM_001142339:exon12:c.T997G:p.L333V;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.T997G:p.L333V;ENSG00000141404:ENST00000602628:exon7:c.T376G:p.L126V;ENSG00000141404:ENST00000535121:exon12:c.T997G:p.L333V;ENSG00000141404:ENST00000334049:exon11:c.T1228G:p.L410V;ENSG00000141404:ENST00000269162:exon12:c.T997G:p.L333V;	4.87641318170088E-5	0.02
18	11876686	T	A	18	11876687	y	y	exonic	GNAL	stopgain SNV	GNAL:NM_182978:exon11:c.T1229A:p.L410X;GNAL:NM_001261443:exon12:c.T998A:p.L333X;GNAL:NM_001261444:exon7:c.T377A:p.L126X;GNAL:NM_001142339:exon12:c.T998A:p.L333X;	exonic	ENSG00000141404	stopgain SNV	ENSG00000141404:ENST00000423027:exon11:c.T998A:p.L333X;ENSG00000141404:ENST00000602628:exon7:c.T377A:p.L126X;ENSG00000141404:ENST00000535121:exon12:c.T998A:p.L333X;ENSG00000141404:ENST00000334049:exon11:c.T1229A:p.L410X;ENSG00000141404:ENST00000269162:exon12:c.T998A:p.L333X;	0.859981197338187	0.704
18	11876686	T	C	18	11876687	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.T1229C:p.L410S;GNAL:NM_001261443:exon12:c.T998C:p.L333S;GNAL:NM_001261444:exon7:c.T377C:p.L126S;GNAL:NM_001142339:exon12:c.T998C:p.L333S;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.T998C:p.L333S;ENSG00000141404:ENST00000602628:exon7:c.T377C:p.L126S;ENSG00000141404:ENST00000535121:exon12:c.T998C:p.L333S;ENSG00000141404:ENST00000334049:exon11:c.T1229C:p.L410S;ENSG00000141404:ENST00000269162:exon12:c.T998C:p.L333S;	0.848725245654101	0.79
18	11876686	T	G	18	11876687	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.T1229G:p.L410W;GNAL:NM_001261443:exon12:c.T998G:p.L333W;GNAL:NM_001261444:exon7:c.T377G:p.L126W;GNAL:NM_001142339:exon12:c.T998G:p.L333W;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.T998G:p.L333W;ENSG00000141404:ENST00000602628:exon7:c.T377G:p.L126W;ENSG00000141404:ENST00000535121:exon12:c.T998G:p.L333W;ENSG00000141404:ENST00000334049:exon11:c.T1229G:p.L410W;ENSG00000141404:ENST00000269162:exon12:c.T998G:p.L333W;	0.853058101507897	0.672
18	11876687	G	A	18	11876688	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon11:c.G1230A:p.L410L;GNAL:NM_001261443:exon12:c.G999A:p.L333L;GNAL:NM_001261444:exon7:c.G378A:p.L126L;GNAL:NM_001142339:exon12:c.G999A:p.L333L;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.G999A:p.L333L;ENSG00000141404:ENST00000602628:exon7:c.G378A:p.L126L;ENSG00000141404:ENST00000535121:exon12:c.G999A:p.L333L;ENSG00000141404:ENST00000334049:exon11:c.G1230A:p.L410L;ENSG00000141404:ENST00000269162:exon12:c.G999A:p.L333L;	0.999981487983008	0.956
18	11876687	G	C	18	11876688	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.G1230C:p.L410F;GNAL:NM_001261443:exon12:c.G999C:p.L333F;GNAL:NM_001261444:exon7:c.G378C:p.L126F;GNAL:NM_001142339:exon12:c.G999C:p.L333F;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.G999C:p.L333F;ENSG00000141404:ENST00000602628:exon7:c.G378C:p.L126F;ENSG00000141404:ENST00000535121:exon12:c.G999C:p.L333F;ENSG00000141404:ENST00000334049:exon11:c.G1230C:p.L410F;ENSG00000141404:ENST00000269162:exon12:c.G999C:p.L333F;	0.999995430405439	0.992
18	11876687	G	T	18	11876688	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon11:c.G1230T:p.L410F;GNAL:NM_001261443:exon12:c.G999T:p.L333F;GNAL:NM_001261444:exon7:c.G378T:p.L126F;GNAL:NM_001142339:exon12:c.G999T:p.L333F;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon11:c.G999T:p.L333F;ENSG00000141404:ENST00000602628:exon7:c.G378T:p.L126F;ENSG00000141404:ENST00000535121:exon12:c.G999T:p.L333F;ENSG00000141404:ENST00000334049:exon11:c.G1230T:p.L410F;ENSG00000141404:ENST00000269162:exon12:c.G999T:p.L333F;	0.999768239510883	0.998
18	11876688	G	A	18	11876689	y	y	splicing	GNAL(NM_182978:exon11:c.1230+1G>A;NM_001142339:exon12:c.999+1G>A;NM_001261443:exon12:c.999+1G>A;NM_001261444:exon7:c.378+1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1230+1G>A;ENST00000535121:exon12:c.999+1G>A;ENST00000269162:exon12:c.999+1G>A;ENST00000423027:exon11:c.999+1G>A;ENST00000602628:exon7:c.378+1G>A)	.	.	0.999982737877662	0.938
18	11876688	G	C	18	11876689	y	y	splicing	GNAL(NM_182978:exon11:c.1230+1G>C;NM_001142339:exon12:c.999+1G>C;NM_001261443:exon12:c.999+1G>C;NM_001261444:exon7:c.378+1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1230+1G>C;ENST00000535121:exon12:c.999+1G>C;ENST00000269162:exon12:c.999+1G>C;ENST00000423027:exon11:c.999+1G>C;ENST00000602628:exon7:c.378+1G>C)	.	.	0.999982737877662	0.932
18	11876688	G	T	18	11876689	y	y	splicing	GNAL(NM_182978:exon11:c.1230+1G>T;NM_001142339:exon12:c.999+1G>T;NM_001261443:exon12:c.999+1G>T;NM_001261444:exon7:c.378+1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1230+1G>T;ENST00000535121:exon12:c.999+1G>T;ENST00000269162:exon12:c.999+1G>T;ENST00000423027:exon11:c.999+1G>T;ENST00000602628:exon7:c.378+1G>T)	.	.	0.999982737877662	0.938
18	11876689	T	A	18	11876690	y	y	splicing	GNAL(NM_182978:exon11:c.1230+2T>A;NM_001142339:exon12:c.999+2T>A;NM_001261443:exon12:c.999+2T>A;NM_001261444:exon7:c.378+2T>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1230+2T>A;ENST00000535121:exon12:c.999+2T>A;ENST00000269162:exon12:c.999+2T>A;ENST00000423027:exon11:c.999+2T>A;ENST00000602628:exon7:c.378+2T>A)	.	.	0.999955521744805	0.932
18	11876689	T	C	18	11876690	y	y	splicing	GNAL(NM_182978:exon11:c.1230+2T>C;NM_001142339:exon12:c.999+2T>C;NM_001261443:exon12:c.999+2T>C;NM_001261444:exon7:c.378+2T>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1230+2T>C;ENST00000535121:exon12:c.999+2T>C;ENST00000269162:exon12:c.999+2T>C;ENST00000423027:exon11:c.999+2T>C;ENST00000602628:exon7:c.378+2T>C)	.	.	0.999756189081275	0.888
18	11876689	T	G	18	11876690	y	y	splicing	GNAL(NM_182978:exon11:c.1230+2T>G;NM_001142339:exon12:c.999+2T>G;NM_001261443:exon12:c.999+2T>G;NM_001261444:exon7:c.378+2T>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon11:c.1230+2T>G;ENST00000535121:exon12:c.999+2T>G;ENST00000269162:exon12:c.999+2T>G;ENST00000423027:exon11:c.999+2T>G;ENST00000602628:exon7:c.378+2T>G)	.	.	0.999955521744805	0.918
18	11876690	A	C	18	11876691	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.915151753627558	0.702
18	11876690	A	G	18	11876691	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.91424999386914E-4	0.026
18	11876690	A	T	18	11876691	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.984961492302626	0.67
18	11876691	A	C	18	11876692	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.362434913924673	0.448
18	11876691	A	G	18	11876692	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.605785717431862	0.674
18	11876691	A	T	18	11876692	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.650903689165547	0.602
18	11876692	G	A	18	11876693	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999922448643786	0.878
18	11876692	G	C	18	11876693	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999895898841699	0.906
18	11876692	G	T	18	11876693	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999944090073053	0.934
18	11876693	C	A	18	11876694	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.02577849396243E-5	0.01
18	11876693	C	G	18	11876694	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.89430438791976E-5	0.018
18	11876693	C	T	18	11876694	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.66401231053052E-5	0.006
18	11876694	A	C	18	11876695	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.93155059641168E-5	0.052
18	11876694	A	G	18	11876695	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.49849674438749E-5	0.0
18	11876694	A	T	18	11876695	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	4.97878667517764E-5	0.0
18	11876695	A	C	18	11876696	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.09105271056891E-5	0.0
18	11876695	A	G	18	11876696	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.09105271056891E-5	0.0
18	11876695	A	T	18	11876696	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.61124854387896E-5	0.002
18	11880976	T	A	18	11880977	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00805826143781595	0.254
18	11880976	T	C	18	11880977	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00139126132115713	0.152
18	11880976	T	G	18	11880977	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00597089235527065	0.206
18	11880977	C	A	18	11880978	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.05600593394863E-4	0.076
18	11880977	C	G	18	11880978	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.08683451383073E-4	0.056
18	11880977	C	T	18	11880978	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.28415426767772E-5	0.0
18	11880978	T	A	18	11880979	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0422637570516249	0.294
18	11880978	T	C	18	11880979	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.01437576831364E-4	0.026
18	11880978	T	G	18	11880979	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0308783158316052	0.204
18	11880979	C	A	18	11880980	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00168683365240279	0.042
18	11880979	C	G	18	11880980	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.85904554825355E-4	0.03
18	11880979	C	T	18	11880980	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.29150521837811E-5	0.0
18	11880980	T	A	18	11880981	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00317700967076796	0.08
18	11880980	T	C	18	11880981	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.74288718329889E-4	0.042
18	11880980	T	G	18	11880981	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00742084452097183	0.154
18	11880981	C	A	18	11880982	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00129478603826069	0.068
18	11880981	C	G	18	11880982	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	7.8892664026448E-4	0.07
18	11880981	C	T	18	11880982	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	8.56548674526545E-5	0.008
18	11880982	T	A	18	11880983	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00686511108792103	0.148
18	11880982	T	C	18	11880983	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	3.01265456678047E-4	0.02
18	11880982	T	G	18	11880983	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00680733828519035	0.132
18	11880983	T	A	18	11880984	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999824222912832	0.958
18	11880983	T	C	18	11880984	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.00124905837240286	0.052
18	11880983	T	G	18	11880984	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.0743192297851325	0.348
18	11880984	G	A	18	11880985	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	1.29643278676192E-4	0.0
18	11880984	G	C	18	11880985	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	2.10830832339143E-5	0.0
18	11880984	G	T	18	11880985	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	5.19086414255849E-5	0.0
18	11880985	C	A	18	11880986	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.997989521297648	0.928
18	11880985	C	G	18	11880986	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.999963896480149	0.988
18	11880985	C	T	18	11880986	y	y	intronic	GNAL	.	.	intronic	ENSG00000141404	.	.	0.332620419867389	0.272
18	11880986	A	C	18	11880987	y	y	splicing	GNAL(NM_182978:exon12:c.1231-2A>C;NM_001142339:exon13:c.1000-2A>C;NM_001261443:exon13:c.1000-2A>C;NM_001261444:exon8:c.379-2A>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon12:c.1231-2A>C;ENST00000535121:exon13:c.1000-2A>C;ENST00000269162:exon13:c.1000-2A>C;ENST00000423027:exon12:c.1000-2A>C;ENST00000602628:exon8:c.379-2A>C)	.	.	0.999988247793601	0.922
18	11880986	A	G	18	11880987	y	y	splicing	GNAL(NM_182978:exon12:c.1231-2A>G;NM_001142339:exon13:c.1000-2A>G;NM_001261443:exon13:c.1000-2A>G;NM_001261444:exon8:c.379-2A>G)	.	.	splicing	ENSG00000141404(ENST00000334049:exon12:c.1231-2A>G;ENST00000535121:exon13:c.1000-2A>G;ENST00000269162:exon13:c.1000-2A>G;ENST00000423027:exon12:c.1000-2A>G;ENST00000602628:exon8:c.379-2A>G)	.	.	0.999988247793601	0.922
18	11880986	A	T	18	11880987	y	y	splicing	GNAL(NM_182978:exon12:c.1231-2A>T;NM_001142339:exon13:c.1000-2A>T;NM_001261443:exon13:c.1000-2A>T;NM_001261444:exon8:c.379-2A>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon12:c.1231-2A>T;ENST00000535121:exon13:c.1000-2A>T;ENST00000269162:exon13:c.1000-2A>T;ENST00000423027:exon12:c.1000-2A>T;ENST00000602628:exon8:c.379-2A>T)	.	.	0.999988247793601	0.922
18	11880987	G	A	18	11880988	y	y	splicing	GNAL(NM_182978:exon12:c.1231-1G>A;NM_001142339:exon13:c.1000-1G>A;NM_001261443:exon13:c.1000-1G>A;NM_001261444:exon8:c.379-1G>A)	.	.	splicing	ENSG00000141404(ENST00000334049:exon12:c.1231-1G>A;ENST00000535121:exon13:c.1000-1G>A;ENST00000269162:exon13:c.1000-1G>A;ENST00000423027:exon12:c.1000-1G>A;ENST00000602628:exon8:c.379-1G>A)	.	.	0.999986675681007	0.928
18	11880987	G	C	18	11880988	y	y	splicing	GNAL(NM_182978:exon12:c.1231-1G>C;NM_001142339:exon13:c.1000-1G>C;NM_001261443:exon13:c.1000-1G>C;NM_001261444:exon8:c.379-1G>C)	.	.	splicing	ENSG00000141404(ENST00000334049:exon12:c.1231-1G>C;ENST00000535121:exon13:c.1000-1G>C;ENST00000269162:exon13:c.1000-1G>C;ENST00000423027:exon12:c.1000-1G>C;ENST00000602628:exon8:c.379-1G>C)	.	.	0.999986675681007	0.928
18	11880987	G	T	18	11880988	y	y	splicing	GNAL(NM_182978:exon12:c.1231-1G>T;NM_001142339:exon13:c.1000-1G>T;NM_001261443:exon13:c.1000-1G>T;NM_001261444:exon8:c.379-1G>T)	.	.	splicing	ENSG00000141404(ENST00000334049:exon12:c.1231-1G>T;ENST00000535121:exon13:c.1000-1G>T;ENST00000269162:exon13:c.1000-1G>T;ENST00000423027:exon12:c.1000-1G>T;ENST00000602628:exon8:c.379-1G>T)	.	.	0.999986675681007	0.928
18	11880988	A	C	18	11880989	y	y	exonic	GNAL	synonymous SNV	GNAL:NM_182978:exon12:c.A1231C:p.R411R;GNAL:NM_001261443:exon13:c.A1000C:p.R334R;GNAL:NM_001261444:exon8:c.A379C:p.R127R;GNAL:NM_001142339:exon13:c.A1000C:p.R334R;	exonic	ENSG00000141404	synonymous SNV	ENSG00000141404:ENST00000423027:exon12:c.A1000C:p.R334R;ENSG00000141404:ENST00000602628:exon8:c.A379C:p.R127R;ENSG00000141404:ENST00000535121:exon13:c.A1000C:p.R334R;ENSG00000141404:ENST00000334049:exon12:c.A1231C:p.R411R;ENSG00000141404:ENST00000269162:exon13:c.A1000C:p.R334R;	0.011428191082537	0.142
18	11880988	A	G	18	11880989	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon12:c.A1231G:p.R411G;GNAL:NM_001261443:exon13:c.A1000G:p.R334G;GNAL:NM_001261444:exon8:c.A379G:p.R127G;GNAL:NM_001142339:exon13:c.A1000G:p.R334G;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon12:c.A1000G:p.R334G;ENSG00000141404:ENST00000602628:exon8:c.A379G:p.R127G;ENSG00000141404:ENST00000535121:exon13:c.A1000G:p.R334G;ENSG00000141404:ENST00000334049:exon12:c.A1231G:p.R411G;ENSG00000141404:ENST00000269162:exon13:c.A1000G:p.R334G;	0.0211429767476292	0.138
18	11880988	A	T	18	11880989	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon12:c.A1231T:p.R411W;GNAL:NM_001261443:exon13:c.A1000T:p.R334W;GNAL:NM_001261444:exon8:c.A379T:p.R127W;GNAL:NM_001142339:exon13:c.A1000T:p.R334W;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon12:c.A1000T:p.R334W;ENSG00000141404:ENST00000602628:exon8:c.A379T:p.R127W;ENSG00000141404:ENST00000535121:exon13:c.A1000T:p.R334W;ENSG00000141404:ENST00000334049:exon12:c.A1231T:p.R411W;ENSG00000141404:ENST00000269162:exon13:c.A1000T:p.R334W;	0.0149376109900661	0.194
18	11880989	G	A	18	11880990	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon12:c.G1232A:p.R411K;GNAL:NM_001261443:exon13:c.G1001A:p.R334K;GNAL:NM_001261444:exon8:c.G380A:p.R127K;GNAL:NM_001142339:exon13:c.G1001A:p.R334K;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon12:c.G1001A:p.R334K;ENSG00000141404:ENST00000602628:exon8:c.G380A:p.R127K;ENSG00000141404:ENST00000535121:exon13:c.G1001A:p.R334K;ENSG00000141404:ENST00000334049:exon12:c.G1232A:p.R411K;ENSG00000141404:ENST00000269162:exon13:c.G1001A:p.R334K;	0.975323191580161	0.728
18	11880989	G	C	18	11880990	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon12:c.G1232C:p.R411T;GNAL:NM_001261443:exon13:c.G1001C:p.R334T;GNAL:NM_001261444:exon8:c.G380C:p.R127T;GNAL:NM_001142339:exon13:c.G1001C:p.R334T;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon12:c.G1001C:p.R334T;ENSG00000141404:ENST00000602628:exon8:c.G380C:p.R127T;ENSG00000141404:ENST00000535121:exon13:c.G1001C:p.R334T;ENSG00000141404:ENST00000334049:exon12:c.G1232C:p.R411T;ENSG00000141404:ENST00000269162:exon13:c.G1001C:p.R334T;	0.958905340317495	0.83
18	11880989	G	T	18	11880990	y	y	exonic	GNAL	nonsynonymous SNV	GNAL:NM_182978:exon12:c.G1232T:p.R411M;GNAL:NM_001261443:exon13:c.G1001T:p.R334M;GNAL:NM_001261444:exon8:c.G380T:p.R127M;GNAL:NM_001142339:exon13:c.G1001T:p.R334M;	exonic	ENSG00000141404	nonsynonymous SNV	ENSG00000141404:ENST00000423027:exon12:c.G1001T:p.R334M;ENSG00000141404:ENST00000602628:exon8:c.G380T:p.R127M;ENSG00000141404:ENST00000535121:exon13:c.G1001T:p.R334M;ENSG00000141404:ENST00000334049:exon12:c.G1232T:p.R411M;ENSG00000141404:ENST00000269162:exon13:c.G1001T:p.R334M;	0.978758381763346	0.846
18	11884625	C	A	18	11884626	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon8:c.G821T:p.G274V;MPPE1:NM_023075:exon11:c.G1010T:p.G337V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon10:c.G944T:p.G315V;ENSG00000154889:ENST00000317235:exon9:c.G821T:p.G274V;ENSG00000154889:ENST00000309976:exon8:c.G821T:p.G274V;ENSG00000154889:ENST00000588072:exon11:c.G1010T:p.G337V;	5.27356238700608E-4	0.004
18	11884625	C	G	18	11884626	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon8:c.G821C:p.G274A;MPPE1:NM_023075:exon11:c.G1010C:p.G337A;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon10:c.G944C:p.G315A;ENSG00000154889:ENST00000317235:exon9:c.G821C:p.G274A;ENSG00000154889:ENST00000309976:exon8:c.G821C:p.G274A;ENSG00000154889:ENST00000588072:exon11:c.G1010C:p.G337A;	7.63989773228826E-5	0.056
18	11884625	C	T	18	11884626	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon8:c.G821A:p.G274D;MPPE1:NM_023075:exon11:c.G1010A:p.G337D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon10:c.G944A:p.G315D;ENSG00000154889:ENST00000317235:exon9:c.G821A:p.G274D;ENSG00000154889:ENST00000309976:exon8:c.G821A:p.G274D;ENSG00000154889:ENST00000588072:exon11:c.G1010A:p.G337D;	0.133152187327703	0.448
18	11884626	C	A	18	11884627	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon8:c.G820T:p.G274C;MPPE1:NM_023075:exon11:c.G1009T:p.G337C;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon10:c.G943T:p.G315C;ENSG00000154889:ENST00000317235:exon9:c.G820T:p.G274C;ENSG00000154889:ENST00000309976:exon8:c.G820T:p.G274C;ENSG00000154889:ENST00000588072:exon11:c.G1009T:p.G337C;	0.999005429636129	0.876
18	11884626	C	G	18	11884627	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon8:c.G820C:p.G274R;MPPE1:NM_023075:exon11:c.G1009C:p.G337R;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon10:c.G943C:p.G315R;ENSG00000154889:ENST00000317235:exon9:c.G820C:p.G274R;ENSG00000154889:ENST00000309976:exon8:c.G820C:p.G274R;ENSG00000154889:ENST00000588072:exon11:c.G1009C:p.G337R;	0.999108161159166	0.88
18	11884626	C	T	18	11884627	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon8:c.G820A:p.G274S;MPPE1:NM_023075:exon11:c.G1009A:p.G337S;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon10:c.G943A:p.G315S;ENSG00000154889:ENST00000317235:exon9:c.G820A:p.G274S;ENSG00000154889:ENST00000309976:exon8:c.G820A:p.G274S;ENSG00000154889:ENST00000588072:exon11:c.G1009A:p.G337S;	0.997744282562012	0.888
18	11884627	C	A	18	11884628	y	y	splicing	MPPE1(NM_001242904:exon9:c.820-1G>T;NM_023075:exon12:c.1009-1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon12:c.1009-1G>T;ENST00000317235:exon10:c.820-1G>T;ENST00000496196:exon13:c.1174-1G>T;ENST00000309976:exon9:c.820-1G>T;ENST00000317251:exon14:c.883-1G>T;ENST00000344987:exon11:c.943-1G>T;ENST00000592306:exon5:c.445-1G>T)	.	.	0.999958003653399	0.82
18	11884627	C	G	18	11884628	y	y	splicing	MPPE1(NM_001242904:exon9:c.820-1G>C;NM_023075:exon12:c.1009-1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon12:c.1009-1G>C;ENST00000317235:exon10:c.820-1G>C;ENST00000496196:exon13:c.1174-1G>C;ENST00000309976:exon9:c.820-1G>C;ENST00000317251:exon14:c.883-1G>C;ENST00000344987:exon11:c.943-1G>C;ENST00000592306:exon5:c.445-1G>C)	.	.	0.999958003653399	0.812
18	11884627	C	T	18	11884628	y	y	splicing	MPPE1(NM_001242904:exon9:c.820-1G>A;NM_023075:exon12:c.1009-1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon12:c.1009-1G>A;ENST00000317235:exon10:c.820-1G>A;ENST00000496196:exon13:c.1174-1G>A;ENST00000309976:exon9:c.820-1G>A;ENST00000317251:exon14:c.883-1G>A;ENST00000344987:exon11:c.943-1G>A;ENST00000592306:exon5:c.445-1G>A)	.	.	0.999958003653399	0.846
18	11884628	T	A	18	11884629	y	y	splicing	MPPE1(NM_001242904:exon9:c.820-2A>T;NM_023075:exon12:c.1009-2A>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon12:c.1009-2A>T;ENST00000317235:exon10:c.820-2A>T;ENST00000496196:exon13:c.1174-2A>T;ENST00000309976:exon9:c.820-2A>T;ENST00000317251:exon14:c.883-2A>T;ENST00000344987:exon11:c.943-2A>T;ENST00000592306:exon5:c.445-2A>T)	.	.	0.999972155025474	0.868
18	11884628	T	C	18	11884629	y	y	splicing	MPPE1(NM_001242904:exon9:c.820-2A>G;NM_023075:exon12:c.1009-2A>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon12:c.1009-2A>G;ENST00000317235:exon10:c.820-2A>G;ENST00000496196:exon13:c.1174-2A>G;ENST00000309976:exon9:c.820-2A>G;ENST00000317251:exon14:c.883-2A>G;ENST00000344987:exon11:c.943-2A>G;ENST00000592306:exon5:c.445-2A>G)	.	.	0.999969255906173	0.86
18	11884628	T	G	18	11884629	y	y	splicing	MPPE1(NM_001242904:exon9:c.820-2A>C;NM_023075:exon12:c.1009-2A>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon12:c.1009-2A>C;ENST00000317235:exon10:c.820-2A>C;ENST00000496196:exon13:c.1174-2A>C;ENST00000309976:exon9:c.820-2A>C;ENST00000317251:exon14:c.883-2A>C;ENST00000344987:exon11:c.943-2A>C;ENST00000592306:exon5:c.445-2A>C)	.	.	0.999969255906173	0.86
18	11884629	G	A	18	11884630	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00170666315873872	0.066
18	11884629	G	C	18	11884630	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.999786123969889	0.942
18	11884629	G	T	18	11884630	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.299309404708908	0.466
18	11884630	G	A	18	11884631	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	2.32033195188927E-4	0.082
18	11884630	G	C	18	11884631	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.11393156722139E-4	0.08
18	11884630	G	T	18	11884631	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.11393156722139E-4	0.08
18	11884631	A	C	18	11884632	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00110342851014898	0.196
18	11884631	A	G	18	11884632	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	6.21897214702065E-5	0.016
18	11884631	A	T	18	11884632	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00107829550046917	0.138
18	11884632	A	C	18	11884633	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.22186000659878E-4	0.112
18	11884632	A	G	18	11884633	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	2.69692329001126E-5	0.004
18	11884632	A	T	18	11884633	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	6.62941724904635E-4	0.16
18	11884633	A	C	18	11884634	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.47053446379487E-4	0.042
18	11884633	A	G	18	11884634	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	6.26007143607885E-5	0.008
18	11884633	A	T	18	11884634	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	7.35532742422525E-5	0.032
18	11884634	G	A	18	11884635	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.84767321715395E-5	0.0
18	11884634	G	C	18	11884635	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.5510830881308E-5	0.028
18	11884634	G	T	18	11884635	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.00653227443713E-4	0.044
18	11884635	G	A	18	11884636	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.80793394726513E-5	0.002
18	11884635	G	C	18	11884636	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.1309281119888E-4	0.006
18	11884635	G	T	18	11884636	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.6852094673082E-4	0.056
18	11884636	A	C	18	11884637	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	9.83907830182457E-5	0.048
18	11884636	A	G	18	11884637	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	9.83907830182457E-5	0.02
18	11884636	A	T	18	11884637	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	2.86009583018639E-4	0.06
18	11884637	G	A	18	11884638	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.40839623268995E-5	0.0
18	11884637	G	C	18	11884638	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.40839623268995E-5	0.0
18	11884637	G	T	18	11884638	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.9817312777614E-5	0.0
18	11884638	A	C	18	11884639	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.2461039820918E-4	0.048
18	11884638	A	G	18	11884639	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.8820120791389E-5	0.002
18	11884638	A	T	18	11884639	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.18109856880219E-4	0.122
18	11884870	A	C	18	11884871	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.80274866394675E-5	0.0
18	11884870	A	G	18	11884871	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.80274866394675E-5	0.0
18	11884870	A	T	18	11884871	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.27663100932972E-5	0.0
18	11884871	C	A	18	11884872	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.91864902820758E-5	0.0
18	11884871	C	G	18	11884872	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.91864902820758E-5	0.0
18	11884871	C	T	18	11884872	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.91864902820758E-5	0.0
18	11884872	A	C	18	11884873	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.15941453541388E-5	0.006
18	11884872	A	G	18	11884873	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.15941453541388E-5	0.006
18	11884872	A	T	18	11884873	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.15941453541388E-5	0.004
18	11884873	C	A	18	11884874	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.81587919352141E-4	0.002
18	11884873	C	G	18	11884874	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.35115461238441E-4	0.002
18	11884873	C	T	18	11884874	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.54864143880111E-4	0.002
18	11884874	T	A	18	11884875	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.90282686970488E-5	0.0
18	11884874	T	C	18	11884875	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.90282686970488E-5	0.0
18	11884874	T	G	18	11884875	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.90282686970488E-5	0.0
18	11884875	G	A	18	11884876	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.43726074783461E-5	0.0
18	11884875	G	C	18	11884876	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.02038320692302E-5	0.0
18	11884875	G	T	18	11884876	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.43726074783461E-5	0.0
18	11884876	A	C	18	11884877	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1173+2T>G;ENST00000317251:exon13:c.882+2T>G)	.	.	2.93008933363103E-5	0.002
18	11884876	A	G	18	11884877	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1173+2T>C;ENST00000317251:exon13:c.882+2T>C)	.	.	2.93008933363103E-5	0.002
18	11884876	A	T	18	11884877	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1173+2T>A;ENST00000317251:exon13:c.882+2T>A)	.	.	2.93008933363103E-5	0.004
18	11884877	C	A	18	11884878	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1173+1G>T;ENST00000317251:exon13:c.882+1G>T)	.	.	1.03334260509943E-4	0.0
18	11884877	C	G	18	11884878	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1173+1G>C;ENST00000317251:exon13:c.882+1G>C)	.	.	1.03334260509943E-4	0.0
18	11884877	C	T	18	11884878	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1173+1G>A;ENST00000317251:exon13:c.882+1G>A)	.	.	1.03334260509943E-4	0.0
18	11884878	C	A	18	11884879	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	4.17825650598919E-5	0.0
18	11884878	C	G	18	11884879	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	4.17825650598919E-5	0.002
18	11884878	C	T	18	11884879	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	4.17825650598919E-5	0.0
18	11884879	T	A	18	11884880	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	5.15941453541388E-5	0.004
18	11884879	T	C	18	11884880	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	5.15941453541388E-5	0.004
18	11884879	T	G	18	11884880	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	5.15941453541388E-5	0.004
18	11884880	G	A	18	11884881	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	1.00675832680685E-4	0.06
18	11884880	G	C	18	11884881	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	1.00675832680685E-4	0.0
18	11884880	G	T	18	11884881	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404;ENSG00000154889	.	.	1.00675832680685E-4	0.002
18	11885041	C	A	18	11885042	n	y	UTR3	GNAL	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000496196:exon11:c.G1010T:p.G337V;ENSG00000154889:ENST00000317251:exon12:c.G719T:p.G240V;ENSG00000154889:ENST00000399978:exon11:c.G1013T:p.G338V;ENSG00000154889:ENST00000587724:exon6:c.G473T:p.G158V;	7.19727987918671E-5	0.12
18	11885041	C	G	18	11885042	n	y	UTR3	GNAL	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000496196:exon11:c.G1010C:p.G337A;ENSG00000154889:ENST00000317251:exon12:c.G719C:p.G240A;ENSG00000154889:ENST00000399978:exon11:c.G1013C:p.G338A;ENSG00000154889:ENST00000587724:exon6:c.G473C:p.G158A;	2.68219155180855E-5	0.0
18	11885041	C	T	18	11885042	n	y	UTR3	GNAL	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000496196:exon11:c.G1010A:p.G337E;ENSG00000154889:ENST00000317251:exon12:c.G719A:p.G240E;ENSG00000154889:ENST00000399978:exon11:c.G1013A:p.G338E;ENSG00000154889:ENST00000587724:exon6:c.G473A:p.G158E;	5.69876435839391E-5	0.074
18	11885042	C	A	18	11885043	n	y	UTR3	GNAL	.	.	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000496196:exon11:c.G1009T:p.G337X;ENSG00000154889:ENST00000317251:exon12:c.G718T:p.G240X;ENSG00000154889:ENST00000399978:exon11:c.G1012T:p.G338X;ENSG00000154889:ENST00000587724:exon6:c.G472T:p.G158X;	0.00219698262313519	0.268
18	11885042	C	G	18	11885043	n	y	UTR3	GNAL	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000496196:exon11:c.G1009C:p.G337R;ENSG00000154889:ENST00000317251:exon12:c.G718C:p.G240R;ENSG00000154889:ENST00000399978:exon11:c.G1012C:p.G338R;ENSG00000154889:ENST00000587724:exon6:c.G472C:p.G158R;	3.04450477856584E-4	0.03
18	11885042	C	T	18	11885043	n	y	UTR3	GNAL	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000496196:exon11:c.G1009A:p.G337R;ENSG00000154889:ENST00000317251:exon12:c.G718A:p.G240R;ENSG00000154889:ENST00000399978:exon11:c.G1012A:p.G338R;ENSG00000154889:ENST00000587724:exon6:c.G472A:p.G158R;	3.46105336276032E-4	0.052
18	11885043	C	A	18	11885044	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1009-1G>T;ENST00000317251:exon13:c.718-1G>T;ENST00000587724:exon7:c.472-1G>T;ENST00000399978:exon12:c.1012-1G>T)	.	.	7.5364181533214E-5	0.0
18	11885043	C	G	18	11885044	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1009-1G>C;ENST00000317251:exon13:c.718-1G>C;ENST00000587724:exon7:c.472-1G>C;ENST00000399978:exon12:c.1012-1G>C)	.	.	7.5364181533214E-5	0.0
18	11885043	C	T	18	11885044	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1009-1G>A;ENST00000317251:exon13:c.718-1G>A;ENST00000587724:exon7:c.472-1G>A;ENST00000399978:exon12:c.1012-1G>A)	.	.	6.24453633365032E-5	0.0
18	11885044	T	A	18	11885045	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1009-2A>T;ENST00000317251:exon13:c.718-2A>T;ENST00000587724:exon7:c.472-2A>T;ENST00000399978:exon12:c.1012-2A>T)	.	.	4.19523722086209E-5	0.0
18	11885044	T	C	18	11885045	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1009-2A>G;ENST00000317251:exon13:c.718-2A>G;ENST00000587724:exon7:c.472-2A>G;ENST00000399978:exon12:c.1012-2A>G)	.	.	7.62500938860321E-5	0.0
18	11885044	T	G	18	11885045	n	y	UTR3	GNAL	.	.	splicing	ENSG00000154889(ENST00000496196:exon12:c.1009-2A>C;ENST00000317251:exon13:c.718-2A>C;ENST00000587724:exon7:c.472-2A>C;ENST00000399978:exon12:c.1012-2A>C)	.	.	7.62500938860321E-5	0.0
18	11885045	A	C	18	11885046	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.45170072801036E-5	0.044
18	11885045	A	G	18	11885046	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.45170072801036E-5	0.044
18	11885045	A	T	18	11885046	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	6.39826558468951E-5	0.044
18	11885046	G	A	18	11885047	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.88563338073588E-5	0.002
18	11885046	G	C	18	11885047	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.88563338073588E-5	0.002
18	11885046	G	T	18	11885047	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.88563338073588E-5	0.002
18	11885047	A	C	18	11885048	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00168095546394821	0.02
18	11885047	A	G	18	11885048	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00168095546394821	0.008
18	11885047	A	T	18	11885048	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00194593705381886	0.016
18	11885048	A	C	18	11885049	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.15267776820636E-5	0.0
18	11885048	A	G	18	11885049	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.15267776820636E-5	0.0
18	11885048	A	T	18	11885049	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.15267776820636E-5	0.0
18	11885049	A	C	18	11885050	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.90066968634554E-5	0.002
18	11885049	A	G	18	11885050	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.90066968634554E-5	0.002
18	11885049	A	T	18	11885050	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.90066968634554E-5	0.002
18	11885050	T	A	18	11885051	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	8.81984393052081E-4	0.008
18	11885050	T	C	18	11885051	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	8.81984393052081E-4	0.008
18	11885050	T	G	18	11885051	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	8.81984393052081E-4	0.008
18	11885051	A	C	18	11885052	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.11284061300141E-5	0.0
18	11885051	A	G	18	11885052	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.11284061300141E-5	0.0
18	11885051	A	T	18	11885052	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	8.29477781110252E-5	0.0
18	11885052	C	A	18	11885053	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	6.09218706544067E-5	0.0
18	11885052	C	G	18	11885053	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	6.09218706544067E-5	0.0
18	11885052	C	T	18	11885053	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	6.09218706544067E-5	0.0
18	11885053	A	C	18	11885054	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.84767321715395E-5	0.002
18	11885053	A	G	18	11885054	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.84767321715395E-5	0.002
18	11885053	A	T	18	11885054	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	6.96737020304725E-5	0.002
18	11885054	T	A	18	11885055	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	9.3797186435366E-5	0.0
18	11885054	T	C	18	11885055	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.49521429640616E-5	0.0
18	11885054	T	G	18	11885055	n	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.49521429640616E-5	0.0
18	11885667	C	A	18	11885668	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	2.7310796558767E-4	0.008
18	11885667	C	G	18	11885668	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	2.7310796558767E-4	0.008
18	11885667	C	T	18	11885668	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.63375524857406E-4	0.008
18	11885668	A	C	18	11885669	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00261998262681094	0.09
18	11885668	A	G	18	11885669	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00261477312084734	0.102
18	11885668	A	T	18	11885669	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.00261477312084734	0.016
18	11885669	C	A	18	11885670	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	8.73870575734458E-6	0.008
18	11885669	C	G	18	11885670	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	5.45676114213229E-4	0.046
18	11885669	C	T	18	11885670	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	2.12441061944895E-4	0.038
18	11885670	G	A	18	11885671	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	1.57025224393543E-5	0.052
18	11885670	G	C	18	11885671	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	3.18760020374166E-5	0.01
18	11885670	G	T	18	11885671	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	4.52611567852488E-5	0.062
18	11885671	T	A	18	11885672	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.999006401601204	0.898
18	11885671	T	C	18	11885672	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.999772616821823	0.954
18	11885671	T	G	18	11885672	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.973514279732729	0.812
18	11885672	T	A	18	11885673	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.999850320618045	0.984
18	11885672	T	C	18	11885673	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.997475065201824	0.978
18	11885672	T	G	18	11885673	y	y	UTR3	GNAL	.	.	UTR3	ENSG00000141404	.	.	0.999841682564017	0.984
18	11885673	A	C	18	11885674	y	y	splicing	MPPE1(NM_001242904:exon8:c.819+2T>G;NM_023075:exon11:c.1008+2T>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.1008+2T>G;ENST00000317235:exon9:c.819+2T>G;ENST00000496196:exon11:c.1008+2T>G;ENST00000309976:exon8:c.819+2T>G;ENST00000317251:exon12:c.717+2T>G;ENST00000344987:exon10:c.942+2T>G;ENST00000592306:exon4:c.444+2T>G;ENST00000587724:exon6:c.471+2T>G;ENST00000399978:exon11:c.1011+2T>G)	.	.	0.999986741007567	0.944
18	11885673	A	G	18	11885674	y	y	splicing	MPPE1(NM_001242904:exon8:c.819+2T>C;NM_023075:exon11:c.1008+2T>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.1008+2T>C;ENST00000317235:exon9:c.819+2T>C;ENST00000496196:exon11:c.1008+2T>C;ENST00000309976:exon8:c.819+2T>C;ENST00000317251:exon12:c.717+2T>C;ENST00000344987:exon10:c.942+2T>C;ENST00000592306:exon4:c.444+2T>C;ENST00000587724:exon6:c.471+2T>C;ENST00000399978:exon11:c.1011+2T>C)	.	.	0.999889519009798	0.88
18	11885673	A	T	18	11885674	y	y	splicing	MPPE1(NM_001242904:exon8:c.819+2T>A;NM_023075:exon11:c.1008+2T>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.1008+2T>A;ENST00000317235:exon9:c.819+2T>A;ENST00000496196:exon11:c.1008+2T>A;ENST00000309976:exon8:c.819+2T>A;ENST00000317251:exon12:c.717+2T>A;ENST00000344987:exon10:c.942+2T>A;ENST00000592306:exon4:c.444+2T>A;ENST00000587724:exon6:c.471+2T>A;ENST00000399978:exon11:c.1011+2T>A)	.	.	0.999986741007567	0.944
18	11885674	C	A	18	11885675	y	y	splicing	MPPE1(NM_001242904:exon8:c.819+1G>T;NM_023075:exon11:c.1008+1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.1008+1G>T;ENST00000317235:exon9:c.819+1G>T;ENST00000496196:exon11:c.1008+1G>T;ENST00000309976:exon8:c.819+1G>T;ENST00000317251:exon12:c.717+1G>T;ENST00000344987:exon10:c.942+1G>T;ENST00000592306:exon4:c.444+1G>T;ENST00000587724:exon6:c.471+1G>T;ENST00000399978:exon11:c.1011+1G>T)	.	.	0.999983677848485	0.944
18	11885674	C	G	18	11885675	y	y	splicing	MPPE1(NM_001242904:exon8:c.819+1G>C;NM_023075:exon11:c.1008+1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.1008+1G>C;ENST00000317235:exon9:c.819+1G>C;ENST00000496196:exon11:c.1008+1G>C;ENST00000309976:exon8:c.819+1G>C;ENST00000317251:exon12:c.717+1G>C;ENST00000344987:exon10:c.942+1G>C;ENST00000592306:exon4:c.444+1G>C;ENST00000587724:exon6:c.471+1G>C;ENST00000399978:exon11:c.1011+1G>C)	.	.	0.999983677848485	0.944
18	11885674	C	T	18	11885675	y	y	splicing	MPPE1(NM_001242904:exon8:c.819+1G>A;NM_023075:exon11:c.1008+1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.1008+1G>A;ENST00000317235:exon9:c.819+1G>A;ENST00000496196:exon11:c.1008+1G>A;ENST00000309976:exon8:c.819+1G>A;ENST00000317251:exon12:c.717+1G>A;ENST00000344987:exon10:c.942+1G>A;ENST00000592306:exon4:c.444+1G>A;ENST00000587724:exon6:c.471+1G>A;ENST00000399978:exon11:c.1011+1G>A)	.	.	0.999983677848485	0.944
18	11885675	C	A	18	11885676	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.G819T:p.M273I;MPPE1:NM_023075:exon10:c.G1008T:p.M336I;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.G942T:p.M314I;ENSG00000154889:ENST00000496196:exon10:c.G1008T:p.M336I;ENSG00000154889:ENST00000317235:exon8:c.G819T:p.M273I;ENSG00000154889:ENST00000317251:exon11:c.G717T:p.M239I;ENSG00000154889:ENST00000309976:exon7:c.G819T:p.M273I;ENSG00000154889:ENST00000588072:exon10:c.G1008T:p.M336I;ENSG00000154889:ENST00000399978:exon10:c.G1011T:p.M337I;ENSG00000154889:ENST00000587724:exon5:c.G471T:p.M157I;	0.999981405502254	1.0
18	11885675	C	G	18	11885676	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.G819C:p.M273I;MPPE1:NM_023075:exon10:c.G1008C:p.M336I;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.G942C:p.M314I;ENSG00000154889:ENST00000496196:exon10:c.G1008C:p.M336I;ENSG00000154889:ENST00000317235:exon8:c.G819C:p.M273I;ENSG00000154889:ENST00000317251:exon11:c.G717C:p.M239I;ENSG00000154889:ENST00000309976:exon7:c.G819C:p.M273I;ENSG00000154889:ENST00000588072:exon10:c.G1008C:p.M336I;ENSG00000154889:ENST00000399978:exon10:c.G1011C:p.M337I;ENSG00000154889:ENST00000587724:exon5:c.G471C:p.M157I;	0.999994295725266	0.998
18	11885675	C	T	18	11885676	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.G819A:p.M273I;MPPE1:NM_023075:exon10:c.G1008A:p.M336I;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.G942A:p.M314I;ENSG00000154889:ENST00000496196:exon10:c.G1008A:p.M336I;ENSG00000154889:ENST00000317235:exon8:c.G819A:p.M273I;ENSG00000154889:ENST00000317251:exon11:c.G717A:p.M239I;ENSG00000154889:ENST00000309976:exon7:c.G819A:p.M273I;ENSG00000154889:ENST00000588072:exon10:c.G1008A:p.M336I;ENSG00000154889:ENST00000399978:exon10:c.G1011A:p.M337I;ENSG00000154889:ENST00000587724:exon5:c.G471A:p.M157I;	0.999996307118932	1.0
18	11885676	A	C	18	11885677	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.T818G:p.M273R;MPPE1:NM_023075:exon10:c.T1007G:p.M336R;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.T941G:p.M314R;ENSG00000154889:ENST00000496196:exon10:c.T1007G:p.M336R;ENSG00000154889:ENST00000317235:exon8:c.T818G:p.M273R;ENSG00000154889:ENST00000317251:exon11:c.T716G:p.M239R;ENSG00000154889:ENST00000309976:exon7:c.T818G:p.M273R;ENSG00000154889:ENST00000588072:exon10:c.T1007G:p.M336R;ENSG00000154889:ENST00000399978:exon10:c.T1010G:p.M337R;ENSG00000154889:ENST00000587724:exon5:c.T470G:p.M157R;	0.963164411360667	0.886
18	11885676	A	G	18	11885677	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.T818C:p.M273T;MPPE1:NM_023075:exon10:c.T1007C:p.M336T;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.T941C:p.M314T;ENSG00000154889:ENST00000496196:exon10:c.T1007C:p.M336T;ENSG00000154889:ENST00000317235:exon8:c.T818C:p.M273T;ENSG00000154889:ENST00000317251:exon11:c.T716C:p.M239T;ENSG00000154889:ENST00000309976:exon7:c.T818C:p.M273T;ENSG00000154889:ENST00000588072:exon10:c.T1007C:p.M336T;ENSG00000154889:ENST00000399978:exon10:c.T1010C:p.M337T;ENSG00000154889:ENST00000587724:exon5:c.T470C:p.M157T;	0.952670409779059	0.898
18	11885676	A	T	18	11885677	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.T818A:p.M273K;MPPE1:NM_023075:exon10:c.T1007A:p.M336K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.T941A:p.M314K;ENSG00000154889:ENST00000496196:exon10:c.T1007A:p.M336K;ENSG00000154889:ENST00000317235:exon8:c.T818A:p.M273K;ENSG00000154889:ENST00000317251:exon11:c.T716A:p.M239K;ENSG00000154889:ENST00000309976:exon7:c.T818A:p.M273K;ENSG00000154889:ENST00000588072:exon10:c.T1007A:p.M336K;ENSG00000154889:ENST00000399978:exon10:c.T1010A:p.M337K;ENSG00000154889:ENST00000587724:exon5:c.T470A:p.M157K;	0.681690528903674	0.632
18	11885677	T	A	18	11885678	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.A817T:p.M273L;MPPE1:NM_023075:exon10:c.A1006T:p.M336L;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.A940T:p.M314L;ENSG00000154889:ENST00000496196:exon10:c.A1006T:p.M336L;ENSG00000154889:ENST00000317235:exon8:c.A817T:p.M273L;ENSG00000154889:ENST00000317251:exon11:c.A715T:p.M239L;ENSG00000154889:ENST00000309976:exon7:c.A817T:p.M273L;ENSG00000154889:ENST00000588072:exon10:c.A1006T:p.M336L;ENSG00000154889:ENST00000399978:exon10:c.A1009T:p.M337L;ENSG00000154889:ENST00000587724:exon5:c.A469T:p.M157L;	0.243606963656449	0.432
18	11885677	T	C	18	11885678	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.A817G:p.M273V;MPPE1:NM_023075:exon10:c.A1006G:p.M336V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.A940G:p.M314V;ENSG00000154889:ENST00000496196:exon10:c.A1006G:p.M336V;ENSG00000154889:ENST00000317235:exon8:c.A817G:p.M273V;ENSG00000154889:ENST00000317251:exon11:c.A715G:p.M239V;ENSG00000154889:ENST00000309976:exon7:c.A817G:p.M273V;ENSG00000154889:ENST00000588072:exon10:c.A1006G:p.M336V;ENSG00000154889:ENST00000399978:exon10:c.A1009G:p.M337V;ENSG00000154889:ENST00000587724:exon5:c.A469G:p.M157V;	0.184685478879022	0.384
18	11885677	T	G	18	11885678	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.A817C:p.M273L;MPPE1:NM_023075:exon10:c.A1006C:p.M336L;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.A940C:p.M314L;ENSG00000154889:ENST00000496196:exon10:c.A1006C:p.M336L;ENSG00000154889:ENST00000317235:exon8:c.A817C:p.M273L;ENSG00000154889:ENST00000317251:exon11:c.A715C:p.M239L;ENSG00000154889:ENST00000309976:exon7:c.A817C:p.M273L;ENSG00000154889:ENST00000588072:exon10:c.A1006C:p.M336L;ENSG00000154889:ENST00000399978:exon10:c.A1009C:p.M337L;ENSG00000154889:ENST00000587724:exon5:c.A469C:p.M157L;	8.63004871207752E-4	0.02
18	11885814	A	C	18	11885815	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.T680G:p.L227R;MPPE1:NM_023075:exon10:c.T869G:p.L290R;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.T803G:p.L268R;ENSG00000154889:ENST00000496196:exon10:c.T869G:p.L290R;ENSG00000154889:ENST00000317235:exon8:c.T680G:p.L227R;ENSG00000154889:ENST00000592977:exon9:c.T869G:p.L290R;ENSG00000154889:ENST00000317251:exon11:c.T578G:p.L193R;ENSG00000154889:ENST00000309976:exon7:c.T680G:p.L227R;ENSG00000154889:ENST00000588072:exon10:c.T869G:p.L290R;ENSG00000154889:ENST00000399978:exon10:c.T872G:p.L291R;ENSG00000154889:ENST00000587724:exon5:c.T332G:p.L111R;	0.385641735999472	0.488
18	11885814	A	G	18	11885815	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.T680C:p.L227P;MPPE1:NM_023075:exon10:c.T869C:p.L290P;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.T803C:p.L268P;ENSG00000154889:ENST00000496196:exon10:c.T869C:p.L290P;ENSG00000154889:ENST00000317235:exon8:c.T680C:p.L227P;ENSG00000154889:ENST00000592977:exon9:c.T869C:p.L290P;ENSG00000154889:ENST00000317251:exon11:c.T578C:p.L193P;ENSG00000154889:ENST00000309976:exon7:c.T680C:p.L227P;ENSG00000154889:ENST00000588072:exon10:c.T869C:p.L290P;ENSG00000154889:ENST00000399978:exon10:c.T872C:p.L291P;ENSG00000154889:ENST00000587724:exon5:c.T332C:p.L111P;	0.722542083244037	0.538
18	11885814	A	T	18	11885815	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.T680A:p.L227Q;MPPE1:NM_023075:exon10:c.T869A:p.L290Q;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.T803A:p.L268Q;ENSG00000154889:ENST00000496196:exon10:c.T869A:p.L290Q;ENSG00000154889:ENST00000317235:exon8:c.T680A:p.L227Q;ENSG00000154889:ENST00000592977:exon9:c.T869A:p.L290Q;ENSG00000154889:ENST00000317251:exon11:c.T578A:p.L193Q;ENSG00000154889:ENST00000309976:exon7:c.T680A:p.L227Q;ENSG00000154889:ENST00000588072:exon10:c.T869A:p.L290Q;ENSG00000154889:ENST00000399978:exon10:c.T872A:p.L291Q;ENSG00000154889:ENST00000587724:exon5:c.T332A:p.L111Q;	0.795965412298783	0.558
18	11885815	G	A	18	11885816	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon7:c.C679T:p.L227L;MPPE1:NM_023075:exon10:c.C868T:p.L290L;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.C802T:p.L268L;ENSG00000154889:ENST00000496196:exon10:c.C868T:p.L290L;ENSG00000154889:ENST00000317235:exon8:c.C679T:p.L227L;ENSG00000154889:ENST00000592977:exon9:c.C868T:p.L290L;ENSG00000154889:ENST00000317251:exon11:c.C577T:p.L193L;ENSG00000154889:ENST00000309976:exon7:c.C679T:p.L227L;ENSG00000154889:ENST00000588072:exon10:c.C868T:p.L290L;ENSG00000154889:ENST00000399978:exon10:c.C871T:p.L291L;ENSG00000154889:ENST00000587724:exon5:c.C331T:p.L111L;	0.0506476753649024	0.306
18	11885815	G	C	18	11885816	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.C679G:p.L227V;MPPE1:NM_023075:exon10:c.C868G:p.L290V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.C802G:p.L268V;ENSG00000154889:ENST00000496196:exon10:c.C868G:p.L290V;ENSG00000154889:ENST00000317235:exon8:c.C679G:p.L227V;ENSG00000154889:ENST00000592977:exon9:c.C868G:p.L290V;ENSG00000154889:ENST00000317251:exon11:c.C577G:p.L193V;ENSG00000154889:ENST00000309976:exon7:c.C679G:p.L227V;ENSG00000154889:ENST00000588072:exon10:c.C868G:p.L290V;ENSG00000154889:ENST00000399978:exon10:c.C871G:p.L291V;ENSG00000154889:ENST00000587724:exon5:c.C331G:p.L111V;	0.956395725758551	0.636
18	11885815	G	T	18	11885816	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon7:c.C679A:p.L227M;MPPE1:NM_023075:exon10:c.C868A:p.L290M;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon9:c.C802A:p.L268M;ENSG00000154889:ENST00000496196:exon10:c.C868A:p.L290M;ENSG00000154889:ENST00000317235:exon8:c.C679A:p.L227M;ENSG00000154889:ENST00000592977:exon9:c.C868A:p.L290M;ENSG00000154889:ENST00000317251:exon11:c.C577A:p.L193M;ENSG00000154889:ENST00000309976:exon7:c.C679A:p.L227M;ENSG00000154889:ENST00000588072:exon10:c.C868A:p.L290M;ENSG00000154889:ENST00000399978:exon10:c.C871A:p.L291M;ENSG00000154889:ENST00000587724:exon5:c.C331A:p.L111M;	0.928178272076008	0.712
18	11885816	C	A	18	11885817	y	y	splicing	MPPE1(NM_001242904:exon8:c.679-1G>T;NM_023075:exon11:c.868-1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.868-1G>T;ENST00000317235:exon9:c.679-1G>T;ENST00000496196:exon11:c.868-1G>T;ENST00000309976:exon8:c.679-1G>T;ENST00000317251:exon12:c.577-1G>T;ENST00000344987:exon10:c.802-1G>T;ENST00000587724:exon6:c.331-1G>T;ENST00000399978:exon11:c.871-1G>T;ENST00000592977:exon10:c.868-1G>T)	.	.	0.999979422316293	0.95
18	11885816	C	G	18	11885817	y	y	splicing	MPPE1(NM_001242904:exon8:c.679-1G>C;NM_023075:exon11:c.868-1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.868-1G>C;ENST00000317235:exon9:c.679-1G>C;ENST00000496196:exon11:c.868-1G>C;ENST00000309976:exon8:c.679-1G>C;ENST00000317251:exon12:c.577-1G>C;ENST00000344987:exon10:c.802-1G>C;ENST00000587724:exon6:c.331-1G>C;ENST00000399978:exon11:c.871-1G>C;ENST00000592977:exon10:c.868-1G>C)	.	.	0.999979422316293	0.95
18	11885816	C	T	18	11885817	y	y	splicing	MPPE1(NM_001242904:exon8:c.679-1G>A;NM_023075:exon11:c.868-1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.868-1G>A;ENST00000317235:exon9:c.679-1G>A;ENST00000496196:exon11:c.868-1G>A;ENST00000309976:exon8:c.679-1G>A;ENST00000317251:exon12:c.577-1G>A;ENST00000344987:exon10:c.802-1G>A;ENST00000587724:exon6:c.331-1G>A;ENST00000399978:exon11:c.871-1G>A;ENST00000592977:exon10:c.868-1G>A)	.	.	0.999979422316293	0.95
18	11885817	T	A	18	11885818	y	y	splicing	MPPE1(NM_001242904:exon8:c.679-2A>T;NM_023075:exon11:c.868-2A>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.868-2A>T;ENST00000317235:exon9:c.679-2A>T;ENST00000496196:exon11:c.868-2A>T;ENST00000309976:exon8:c.679-2A>T;ENST00000317251:exon12:c.577-2A>T;ENST00000344987:exon10:c.802-2A>T;ENST00000587724:exon6:c.331-2A>T;ENST00000399978:exon11:c.871-2A>T;ENST00000592977:exon10:c.868-2A>T)	.	.	0.999988624979899	0.938
18	11885817	T	C	18	11885818	y	y	splicing	MPPE1(NM_001242904:exon8:c.679-2A>G;NM_023075:exon11:c.868-2A>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.868-2A>G;ENST00000317235:exon9:c.679-2A>G;ENST00000496196:exon11:c.868-2A>G;ENST00000309976:exon8:c.679-2A>G;ENST00000317251:exon12:c.577-2A>G;ENST00000344987:exon10:c.802-2A>G;ENST00000587724:exon6:c.331-2A>G;ENST00000399978:exon11:c.871-2A>G;ENST00000592977:exon10:c.868-2A>G)	.	.	0.999988624979899	0.94
18	11885817	T	G	18	11885818	y	y	splicing	MPPE1(NM_001242904:exon8:c.679-2A>C;NM_023075:exon11:c.868-2A>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon11:c.868-2A>C;ENST00000317235:exon9:c.679-2A>C;ENST00000496196:exon11:c.868-2A>C;ENST00000309976:exon8:c.679-2A>C;ENST00000317251:exon12:c.577-2A>C;ENST00000344987:exon10:c.802-2A>C;ENST00000587724:exon6:c.331-2A>C;ENST00000399978:exon11:c.871-2A>C;ENST00000592977:exon10:c.868-2A>C)	.	.	0.999988624979899	0.94
18	11885818	G	A	18	11885819	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.140664904378672	0.464
18	11885818	G	C	18	11885819	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.99991047117547	0.78
18	11885818	G	T	18	11885819	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.999744674174129	0.9
18	11885819	A	C	18	11885820	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	1.17554095933996E-4	0.11
18	11885819	A	G	18	11885820	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	5.38751550123022E-5	0.048
18	11885819	A	T	18	11885820	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	8.04805862720639E-5	0.044
18	11885820	C	A	18	11885821	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	3.44362172635607E-5	0.03
18	11885820	C	G	18	11885821	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	2.06236804923484E-5	0.006
18	11885820	C	T	18	11885821	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	9.17649294506827E-5	0.01
18	11885821	A	C	18	11885822	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.0128289644752933	0.378
18	11885821	A	G	18	11885822	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	3.02241133646216E-4	0.082
18	11885821	A	T	18	11885822	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.987184311407666	0.722
18	11885822	G	A	18	11885823	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	2.63815054401743E-5	0.0
18	11885822	G	C	18	11885823	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.998503230533501	0.946
18	11885822	G	T	18	11885823	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	4.45804255094144E-4	0.08
18	11885823	T	A	18	11885824	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	2.12045736040035E-5	0.02
18	11885823	T	C	18	11885824	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	2.556199622807E-5	0.002
18	11885823	T	G	18	11885824	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	2.63893490425848E-5	0.002
18	11885824	G	A	18	11885825	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	1.59111153225837E-5	0.002
18	11885824	G	C	18	11885825	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	2.30174082686927E-4	0.072
18	11885824	G	T	18	11885825	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.00122298787316925	0.14
18	11885825	G	A	18	11885826	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	5.17734906907036E-5	0.022
18	11885825	G	C	18	11885826	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.00286743942454346	0.054
18	11885825	G	T	18	11885826	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.0144140377247104	0.164
18	11885826	C	A	18	11885827	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	1.78012814789882E-4	0.12
18	11885826	C	G	18	11885827	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	1.07619800737243E-4	0.02
18	11885826	C	T	18	11885827	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	1.52024779293948E-4	0.04
18	11885827	C	A	18	11885828	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	6.52726882995776E-5	0.0
18	11885827	C	G	18	11885828	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	6.52726882995776E-5	0.006
18	11885827	C	T	18	11885828	y	y	intronic	MPPE1	.	.	UTR3	ENSG00000154889	.	.	0.999698661879433	0.974
18	11885910	T	A	18	11885911	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon3:c.A209T:p.E70V;	4.02466957729168E-5	0.032
18	11885910	T	C	18	11885911	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon3:c.A209G:p.E70G;	3.72992662986781E-5	0.032
18	11885910	T	G	18	11885911	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon3:c.A209C:p.E70A;	3.72992662986781E-5	0.032
18	11885911	C	A	18	11885912	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000592306:exon3:c.G208T:p.E70X;	4.52932449848953E-5	0.002
18	11885911	C	G	18	11885912	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon3:c.G208C:p.E70Q;	4.52932449848953E-5	0.002
18	11885911	C	T	18	11885912	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon3:c.G208A:p.E70K;	3.75289494538373E-5	0.002
18	11885912	C	A	18	11885913	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592306:exon4:c.208-1G>T)	.	.	2.25524929795369E-5	0.0
18	11885912	C	G	18	11885913	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592306:exon4:c.208-1G>C)	.	.	3.94286898449511E-5	0.012
18	11885912	C	T	18	11885913	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592306:exon4:c.208-1G>A)	.	.	1.09950617244129E-4	0.126
18	11885913	T	A	18	11885914	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592306:exon4:c.208-2A>T)	.	.	1.70337218186484E-5	0.0
18	11885913	T	C	18	11885914	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592306:exon4:c.208-2A>G)	.	.	1.70337218186484E-5	0.034
18	11885913	T	G	18	11885914	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592306:exon4:c.208-2A>C)	.	.	1.70337218186484E-5	0.004
18	11885914	T	A	18	11885915	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.83708300348738E-5	0.0
18	11885914	T	C	18	11885915	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.80994074047231E-5	0.0
18	11885914	T	G	18	11885915	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.80994074047231E-5	0.0
18	11885915	A	C	18	11885916	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.05089878083976E-4	0.044
18	11885915	A	G	18	11885916	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.05089878083976E-4	0.044
18	11885915	A	T	18	11885916	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.85892088628007E-5	0.042
18	11885916	A	C	18	11885917	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.455930068921E-5	0.006
18	11885916	A	G	18	11885917	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.455930068921E-5	0.006
18	11885916	A	T	18	11885917	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.455930068921E-5	0.006
18	11885917	A	C	18	11885918	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.37205498882069E-5	0.0
18	11885917	A	G	18	11885918	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.37205498882069E-5	0.0
18	11885917	A	T	18	11885918	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.11657407965104E-4	0.006
18	11885918	T	A	18	11885919	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.86075475573093E-5	0.0
18	11885918	T	C	18	11885919	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.83708300348738E-5	0.012
18	11885918	T	G	18	11885919	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.83708300348738E-5	0.022
18	11885919	T	A	18	11885920	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.67738868662274E-5	0.0
18	11885919	T	C	18	11885920	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.67738868662274E-5	0.0
18	11885919	T	G	18	11885920	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.67738868662274E-5	0.0
18	11885920	A	C	18	11885921	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.38113264713725E-5	0.04
18	11885920	A	G	18	11885921	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.38113264713725E-5	0.04
18	11885920	A	T	18	11885921	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.04278140930798E-5	0.038
18	11885921	C	A	18	11885922	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.89925739660516E-5	0.06
18	11885921	C	G	18	11885922	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.89925739660516E-5	0.006
18	11885921	C	T	18	11885922	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.15941453541388E-5	0.004
18	11885922	A	C	18	11885923	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.24975915077222E-5	0.0
18	11885922	A	G	18	11885923	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.24975915077222E-5	0.0
18	11885922	A	T	18	11885923	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.33815804894828E-5	0.0
18	11885923	T	A	18	11885924	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.3500733371869E-5	0.0
18	11885923	T	C	18	11885924	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.3500733371869E-5	0.0
18	11885923	T	G	18	11885924	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.3500733371869E-5	0.0
18	11886490	T	A	18	11886491	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.93686481972685E-4	0.012
18	11886490	T	C	18	11886491	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.46213747381175E-4	0.018
18	11886490	T	G	18	11886491	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.46213747381175E-4	0.014
18	11886491	G	A	18	11886492	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.00206221854382E-4	0.018
18	11886491	G	C	18	11886492	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.34202675903782E-4	0.01
18	11886491	G	T	18	11886492	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.16990769116519E-4	0.042
18	11886492	G	A	18	11886493	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.53557090961365E-4	0.08
18	11886492	G	C	18	11886493	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.0932048526533E-4	0.08
18	11886492	G	T	18	11886493	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.50638916172595E-4	0.03
18	11886493	C	A	18	11886494	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999975908783017	0.976
18	11886493	C	G	18	11886494	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999984754944891	0.992
18	11886493	C	T	18	11886494	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999727240277293	0.976
18	11886494	A	C	18	11886495	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.17676398548846E-5	0.07
18	11886494	A	G	18	11886495	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.19783578268716E-4	0.062
18	11886494	A	T	18	11886495	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.81975016845552E-5	0.018
18	11886495	A	C	18	11886496	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.92892688743207E-5	0.038
18	11886495	A	G	18	11886496	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.58711569305056E-4	0.136
18	11886495	A	T	18	11886496	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.13764706211135E-4	0.06
18	11886496	A	C	18	11886497	y	y	splicing	MPPE1(NM_023075:exon10:c.867+2T>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.867+2T>G;ENST00000496196:exon10:c.867+2T>G;ENST00000317251:exon11:c.576+2T>G;ENST00000344987:exon9:c.801+2T>G;ENST00000592306:exon3:c.207+2T>G;ENST00000587724:exon5:c.330+2T>G;ENST00000399978:exon10:c.870+2T>G;ENST00000592977:exon9:c.867+2T>G)	.	.	0.999990764389106	0.94
18	11886496	A	G	18	11886497	y	y	splicing	MPPE1(NM_023075:exon10:c.867+2T>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.867+2T>C;ENST00000496196:exon10:c.867+2T>C;ENST00000317251:exon11:c.576+2T>C;ENST00000344987:exon9:c.801+2T>C;ENST00000592306:exon3:c.207+2T>C;ENST00000587724:exon5:c.330+2T>C;ENST00000399978:exon10:c.870+2T>C;ENST00000592977:exon9:c.867+2T>C)	.	.	0.999933373721707	0.916
18	11886496	A	T	18	11886497	y	y	splicing	MPPE1(NM_023075:exon10:c.867+2T>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.867+2T>A;ENST00000496196:exon10:c.867+2T>A;ENST00000317251:exon11:c.576+2T>A;ENST00000344987:exon9:c.801+2T>A;ENST00000592306:exon3:c.207+2T>A;ENST00000587724:exon5:c.330+2T>A;ENST00000399978:exon10:c.870+2T>A;ENST00000592977:exon9:c.867+2T>A)	.	.	0.999990764389106	0.94
18	11886497	C	A	18	11886498	y	y	splicing	MPPE1(NM_023075:exon10:c.867+1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.867+1G>T;ENST00000496196:exon10:c.867+1G>T;ENST00000317251:exon11:c.576+1G>T;ENST00000344987:exon9:c.801+1G>T;ENST00000592306:exon3:c.207+1G>T;ENST00000587724:exon5:c.330+1G>T;ENST00000399978:exon10:c.870+1G>T;ENST00000592977:exon9:c.867+1G>T)	.	.	0.999988630721284	0.938
18	11886497	C	G	18	11886498	y	y	splicing	MPPE1(NM_023075:exon10:c.867+1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.867+1G>C;ENST00000496196:exon10:c.867+1G>C;ENST00000317251:exon11:c.576+1G>C;ENST00000344987:exon9:c.801+1G>C;ENST00000592306:exon3:c.207+1G>C;ENST00000587724:exon5:c.330+1G>C;ENST00000399978:exon10:c.870+1G>C;ENST00000592977:exon9:c.867+1G>C)	.	.	0.999988630721284	0.938
18	11886497	C	T	18	11886498	y	y	splicing	MPPE1(NM_023075:exon10:c.867+1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.867+1G>A;ENST00000496196:exon10:c.867+1G>A;ENST00000317251:exon11:c.576+1G>A;ENST00000344987:exon9:c.801+1G>A;ENST00000592306:exon3:c.207+1G>A;ENST00000587724:exon5:c.330+1G>A;ENST00000399978:exon10:c.870+1G>A;ENST00000592977:exon9:c.867+1G>A)	.	.	0.999988630721284	0.938
18	11886498	C	A	18	11886499	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.G867T:p.K289N;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.G207T:p.K69N;ENSG00000154889:ENST00000344987:exon8:c.G801T:p.K267N;ENSG00000154889:ENST00000496196:exon9:c.G867T:p.K289N;ENSG00000154889:ENST00000592977:exon8:c.G867T:p.K289N;ENSG00000154889:ENST00000317251:exon10:c.G576T:p.K192N;ENSG00000154889:ENST00000588072:exon9:c.G867T:p.K289N;ENSG00000154889:ENST00000399978:exon9:c.G870T:p.K290N;ENSG00000154889:ENST00000587724:exon4:c.G330T:p.K110N;	0.999991145267119	1.0
18	11886498	C	G	18	11886499	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.G867C:p.K289N;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.G207C:p.K69N;ENSG00000154889:ENST00000344987:exon8:c.G801C:p.K267N;ENSG00000154889:ENST00000496196:exon9:c.G867C:p.K289N;ENSG00000154889:ENST00000592977:exon8:c.G867C:p.K289N;ENSG00000154889:ENST00000317251:exon10:c.G576C:p.K192N;ENSG00000154889:ENST00000588072:exon9:c.G867C:p.K289N;ENSG00000154889:ENST00000399978:exon9:c.G870C:p.K290N;ENSG00000154889:ENST00000587724:exon4:c.G330C:p.K110N;	0.9999981677847	1.0
18	11886498	C	T	18	11886499	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_023075:exon9:c.G867A:p.K289K;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.G207A:p.K69K;ENSG00000154889:ENST00000344987:exon8:c.G801A:p.K267K;ENSG00000154889:ENST00000496196:exon9:c.G867A:p.K289K;ENSG00000154889:ENST00000592977:exon8:c.G867A:p.K289K;ENSG00000154889:ENST00000317251:exon10:c.G576A:p.K192K;ENSG00000154889:ENST00000588072:exon9:c.G867A:p.K289K;ENSG00000154889:ENST00000399978:exon9:c.G870A:p.K290K;ENSG00000154889:ENST00000587724:exon4:c.G330A:p.K110K;	0.999992623448194	0.99
18	11886499	T	A	18	11886500	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.A866T:p.K289M;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.A206T:p.K69M;ENSG00000154889:ENST00000344987:exon8:c.A800T:p.K267M;ENSG00000154889:ENST00000496196:exon9:c.A866T:p.K289M;ENSG00000154889:ENST00000592977:exon8:c.A866T:p.K289M;ENSG00000154889:ENST00000317251:exon10:c.A575T:p.K192M;ENSG00000154889:ENST00000588072:exon9:c.A866T:p.K289M;ENSG00000154889:ENST00000399978:exon9:c.A869T:p.K290M;ENSG00000154889:ENST00000587724:exon4:c.A329T:p.K110M;	0.999973968098053	0.964
18	11886499	T	C	18	11886500	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.A866G:p.K289R;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.A206G:p.K69R;ENSG00000154889:ENST00000344987:exon8:c.A800G:p.K267R;ENSG00000154889:ENST00000496196:exon9:c.A866G:p.K289R;ENSG00000154889:ENST00000592977:exon8:c.A866G:p.K289R;ENSG00000154889:ENST00000317251:exon10:c.A575G:p.K192R;ENSG00000154889:ENST00000588072:exon9:c.A866G:p.K289R;ENSG00000154889:ENST00000399978:exon9:c.A869G:p.K290R;ENSG00000154889:ENST00000587724:exon4:c.A329G:p.K110R;	0.999877413807118	0.99
18	11886499	T	G	18	11886500	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.A866C:p.K289T;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.A206C:p.K69T;ENSG00000154889:ENST00000344987:exon8:c.A800C:p.K267T;ENSG00000154889:ENST00000496196:exon9:c.A866C:p.K289T;ENSG00000154889:ENST00000592977:exon8:c.A866C:p.K289T;ENSG00000154889:ENST00000317251:exon10:c.A575C:p.K192T;ENSG00000154889:ENST00000588072:exon9:c.A866C:p.K289T;ENSG00000154889:ENST00000399978:exon9:c.A869C:p.K290T;ENSG00000154889:ENST00000587724:exon4:c.A329C:p.K110T;	0.999894082432483	0.954
18	11886500	T	A	18	11886501	y	y	exonic	MPPE1	stopgain SNV	MPPE1:NM_023075:exon9:c.A865T:p.K289X;	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000592306:exon2:c.A205T:p.K69X;ENSG00000154889:ENST00000344987:exon8:c.A799T:p.K267X;ENSG00000154889:ENST00000496196:exon9:c.A865T:p.K289X;ENSG00000154889:ENST00000592977:exon8:c.A865T:p.K289X;ENSG00000154889:ENST00000317251:exon10:c.A574T:p.K192X;ENSG00000154889:ENST00000588072:exon9:c.A865T:p.K289X;ENSG00000154889:ENST00000399978:exon9:c.A868T:p.K290X;ENSG00000154889:ENST00000587724:exon4:c.A328T:p.K110X;	0.998654793559628	0.882
18	11886500	T	C	18	11886501	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.A865G:p.K289E;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.A205G:p.K69E;ENSG00000154889:ENST00000344987:exon8:c.A799G:p.K267E;ENSG00000154889:ENST00000496196:exon9:c.A865G:p.K289E;ENSG00000154889:ENST00000592977:exon8:c.A865G:p.K289E;ENSG00000154889:ENST00000317251:exon10:c.A574G:p.K192E;ENSG00000154889:ENST00000588072:exon9:c.A865G:p.K289E;ENSG00000154889:ENST00000399978:exon9:c.A868G:p.K290E;ENSG00000154889:ENST00000587724:exon4:c.A328G:p.K110E;	0.815925481589139	0.486
18	11886500	T	G	18	11886501	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.A865C:p.K289Q;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.A205C:p.K69Q;ENSG00000154889:ENST00000344987:exon8:c.A799C:p.K267Q;ENSG00000154889:ENST00000496196:exon9:c.A865C:p.K289Q;ENSG00000154889:ENST00000592977:exon8:c.A865C:p.K289Q;ENSG00000154889:ENST00000317251:exon10:c.A574C:p.K192Q;ENSG00000154889:ENST00000588072:exon9:c.A865C:p.K289Q;ENSG00000154889:ENST00000399978:exon9:c.A868C:p.K290Q;ENSG00000154889:ENST00000587724:exon4:c.A328C:p.K110Q;	0.0483140072370728	0.222
18	11886619	T	A	18	11886620	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.A746T:p.H249L;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.A86T:p.H29L;ENSG00000154889:ENST00000344987:exon8:c.A680T:p.H227L;ENSG00000154889:ENST00000496196:exon9:c.A746T:p.H249L;ENSG00000154889:ENST00000592977:exon8:c.A746T:p.H249L;ENSG00000154889:ENST00000317251:exon10:c.A455T:p.H152L;ENSG00000154889:ENST00000588072:exon9:c.A746T:p.H249L;ENSG00000154889:ENST00000399978:exon9:c.A749T:p.H250L;ENSG00000154889:ENST00000587724:exon4:c.A209T:p.H70L;	0.782774240648429	0.724
18	11886619	T	C	18	11886620	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.A746G:p.H249R;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.A86G:p.H29R;ENSG00000154889:ENST00000344987:exon8:c.A680G:p.H227R;ENSG00000154889:ENST00000496196:exon9:c.A746G:p.H249R;ENSG00000154889:ENST00000592977:exon8:c.A746G:p.H249R;ENSG00000154889:ENST00000317251:exon10:c.A455G:p.H152R;ENSG00000154889:ENST00000588072:exon9:c.A746G:p.H249R;ENSG00000154889:ENST00000399978:exon9:c.A749G:p.H250R;ENSG00000154889:ENST00000587724:exon4:c.A209G:p.H70R;	0.0156683679469208	0.14
18	11886619	T	G	18	11886620	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.A746C:p.H249P;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.A86C:p.H29P;ENSG00000154889:ENST00000344987:exon8:c.A680C:p.H227P;ENSG00000154889:ENST00000496196:exon9:c.A746C:p.H249P;ENSG00000154889:ENST00000592977:exon8:c.A746C:p.H249P;ENSG00000154889:ENST00000317251:exon10:c.A455C:p.H152P;ENSG00000154889:ENST00000588072:exon9:c.A746C:p.H249P;ENSG00000154889:ENST00000399978:exon9:c.A749C:p.H250P;ENSG00000154889:ENST00000587724:exon4:c.A209C:p.H70P;	0.695854311445305	0.568
18	11886620	G	A	18	11886621	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.C745T:p.H249Y;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.C85T:p.H29Y;ENSG00000154889:ENST00000344987:exon8:c.C679T:p.H227Y;ENSG00000154889:ENST00000496196:exon9:c.C745T:p.H249Y;ENSG00000154889:ENST00000592977:exon8:c.C745T:p.H249Y;ENSG00000154889:ENST00000317251:exon10:c.C454T:p.H152Y;ENSG00000154889:ENST00000588072:exon9:c.C745T:p.H249Y;ENSG00000154889:ENST00000399978:exon9:c.C748T:p.H250Y;ENSG00000154889:ENST00000587724:exon4:c.C208T:p.H70Y;	0.995511611399088	0.868
18	11886620	G	C	18	11886621	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.C745G:p.H249D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.C85G:p.H29D;ENSG00000154889:ENST00000344987:exon8:c.C679G:p.H227D;ENSG00000154889:ENST00000496196:exon9:c.C745G:p.H249D;ENSG00000154889:ENST00000592977:exon8:c.C745G:p.H249D;ENSG00000154889:ENST00000317251:exon10:c.C454G:p.H152D;ENSG00000154889:ENST00000588072:exon9:c.C745G:p.H249D;ENSG00000154889:ENST00000399978:exon9:c.C748G:p.H250D;ENSG00000154889:ENST00000587724:exon4:c.C208G:p.H70D;	0.956547421090368	0.678
18	11886620	G	T	18	11886621	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon9:c.C745A:p.H249N;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon2:c.C85A:p.H29N;ENSG00000154889:ENST00000344987:exon8:c.C679A:p.H227N;ENSG00000154889:ENST00000496196:exon9:c.C745A:p.H249N;ENSG00000154889:ENST00000592977:exon8:c.C745A:p.H249N;ENSG00000154889:ENST00000317251:exon10:c.C454A:p.H152N;ENSG00000154889:ENST00000588072:exon9:c.C745A:p.H249N;ENSG00000154889:ENST00000399978:exon9:c.C748A:p.H250N;ENSG00000154889:ENST00000587724:exon4:c.C208A:p.H70N;	0.939949746901908	0.732
18	11886621	C	A	18	11886622	y	y	splicing	MPPE1(NM_023075:exon10:c.745-1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.745-1G>T;ENST00000496196:exon10:c.745-1G>T;ENST00000317251:exon11:c.454-1G>T;ENST00000344987:exon9:c.679-1G>T;ENST00000592306:exon3:c.85-1G>T;ENST00000587724:exon5:c.208-1G>T;ENST00000399978:exon10:c.748-1G>T;ENST00000592977:exon9:c.745-1G>T)	.	.	0.999944853213407	0.914
18	11886621	C	G	18	11886622	y	y	splicing	MPPE1(NM_023075:exon10:c.745-1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.745-1G>C;ENST00000496196:exon10:c.745-1G>C;ENST00000317251:exon11:c.454-1G>C;ENST00000344987:exon9:c.679-1G>C;ENST00000592306:exon3:c.85-1G>C;ENST00000587724:exon5:c.208-1G>C;ENST00000399978:exon10:c.748-1G>C;ENST00000592977:exon9:c.745-1G>C)	.	.	0.999970558179251	0.914
18	11886621	C	T	18	11886622	y	y	splicing	MPPE1(NM_023075:exon10:c.745-1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.745-1G>A;ENST00000496196:exon10:c.745-1G>A;ENST00000317251:exon11:c.454-1G>A;ENST00000344987:exon9:c.679-1G>A;ENST00000592306:exon3:c.85-1G>A;ENST00000587724:exon5:c.208-1G>A;ENST00000399978:exon10:c.748-1G>A;ENST00000592977:exon9:c.745-1G>A)	.	.	0.999944853213407	0.902
18	11886622	T	A	18	11886623	y	y	splicing	MPPE1(NM_023075:exon10:c.745-2A>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.745-2A>T;ENST00000496196:exon10:c.745-2A>T;ENST00000317251:exon11:c.454-2A>T;ENST00000344987:exon9:c.679-2A>T;ENST00000592306:exon3:c.85-2A>T;ENST00000587724:exon5:c.208-2A>T;ENST00000399978:exon10:c.748-2A>T;ENST00000592977:exon9:c.745-2A>T)	.	.	0.999976083432424	0.926
18	11886622	T	C	18	11886623	y	y	splicing	MPPE1(NM_023075:exon10:c.745-2A>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.745-2A>G;ENST00000496196:exon10:c.745-2A>G;ENST00000317251:exon11:c.454-2A>G;ENST00000344987:exon9:c.679-2A>G;ENST00000592306:exon3:c.85-2A>G;ENST00000587724:exon5:c.208-2A>G;ENST00000399978:exon10:c.748-2A>G;ENST00000592977:exon9:c.745-2A>G)	.	.	0.999975249177292	0.914
18	11886622	T	G	18	11886623	y	y	splicing	MPPE1(NM_023075:exon10:c.745-2A>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon10:c.745-2A>C;ENST00000496196:exon10:c.745-2A>C;ENST00000317251:exon11:c.454-2A>C;ENST00000344987:exon9:c.679-2A>C;ENST00000592306:exon3:c.85-2A>C;ENST00000587724:exon5:c.208-2A>C;ENST00000399978:exon10:c.748-2A>C;ENST00000592977:exon9:c.745-2A>C)	.	.	0.999975249177292	0.914
18	11886623	G	A	18	11886624	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00309681259506668	0.152
18	11886623	G	C	18	11886624	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999785401216422	0.748
18	11886623	G	T	18	11886624	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.996354288785326	0.82
18	11886624	T	A	18	11886625	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.13589886113083E-4	0.098
18	11886624	T	C	18	11886625	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.03815739836741E-5	0.02
18	11886624	T	G	18	11886625	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.65315365633428E-5	0.088
18	11886625	C	A	18	11886626	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.44248969813696E-5	0.038
18	11886625	C	G	18	11886626	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.26282657477284E-5	0.0
18	11886625	C	T	18	11886626	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.985349991486E-5	0.056
18	11886626	C	A	18	11886627	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.90793797884403E-5	0.048
18	11886626	C	G	18	11886627	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.94071583457583E-5	0.038
18	11886626	C	T	18	11886627	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999119430801547	0.974
18	11886627	G	A	18	11886628	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.038657409998E-5	0.0
18	11886627	G	C	18	11886628	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.89289242898529E-4	0.14
18	11886627	G	T	18	11886628	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.931551158072704	0.71
18	11886628	G	A	18	11886629	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.52162489880196E-4	0.052
18	11886628	G	C	18	11886629	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0181508371004757	0.208
18	11886628	G	T	18	11886629	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.262903244575544	0.268
18	11886629	G	A	18	11886630	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.35745369893966E-4	0.006
18	11886629	G	C	18	11886630	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00289610382595451	0.098
18	11886629	G	T	18	11886630	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00515123412591873	0.16
18	11886630	G	A	18	11886631	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.02885235917959E-5	0.006
18	11886630	G	C	18	11886631	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998136885194059	0.872
18	11886630	G	T	18	11886631	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.65940398146444E-4	0.076
18	11886631	T	A	18	11886632	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.70297667544863E-4	0.142
18	11886631	T	C	18	11886632	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.81896822709645E-5	0.024
18	11886631	T	G	18	11886632	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.66365059215161E-5	0.026
18	11886632	G	A	18	11886633	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.77059165852354E-6	0.006
18	11886632	G	C	18	11886633	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.67476357805396E-4	0.062
18	11886632	G	T	18	11886633	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.8612214159681E-4	0.062
18	11886704	C	A	18	11886705	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.11469019596915E-5	0.0
18	11886704	C	G	18	11886705	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.49072551373861E-5	0.0
18	11886704	C	T	18	11886705	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.16205306056342E-5	0.0
18	11886705	A	C	18	11886706	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.08882707724309E-5	0.0
18	11886705	A	G	18	11886706	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.08882707724309E-5	0.0
18	11886705	A	T	18	11886706	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.08882707724309E-5	0.0
18	11886706	G	A	18	11886707	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.22049008731162E-5	0.004
18	11886706	G	C	18	11886707	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.45884459055843E-4	0.028
18	11886706	G	T	18	11886707	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.17097449367781E-4	0.014
18	11886707	C	A	18	11886708	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998111558200001	0.912
18	11886707	C	G	18	11886708	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.987389961517386	0.784
18	11886707	C	T	18	11886708	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999240458276935	0.974
18	11886708	T	A	18	11886709	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.990466201012073	0.802
18	11886708	T	C	18	11886709	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.9788959001967	0.71
18	11886708	T	G	18	11886709	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.926606181463593	0.718
18	11886709	C	A	18	11886710	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.818098370358295	0.548
18	11886709	C	G	18	11886710	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.165597280190389	0.538
18	11886709	C	T	18	11886710	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.04886057751403E-4	0.0
18	11886710	A	C	18	11886711	y	y	splicing	MPPE1(NM_023075:exon9:c.744+2T>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon9:c.744+2T>G;ENST00000496196:exon9:c.744+2T>G;ENST00000317251:exon10:c.453+2T>G;ENST00000592306:exon2:c.84+2T>G;ENST00000587724:exon4:c.207+2T>G;ENST00000399978:exon9:c.747+2T>G;ENST00000592977:exon8:c.744+2T>G)	.	.	0.999988247793601	0.926
18	11886710	A	G	18	11886711	y	y	splicing	MPPE1(NM_023075:exon9:c.744+2T>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon9:c.744+2T>C;ENST00000496196:exon9:c.744+2T>C;ENST00000317251:exon10:c.453+2T>C;ENST00000592306:exon2:c.84+2T>C;ENST00000587724:exon4:c.207+2T>C;ENST00000399978:exon9:c.747+2T>C;ENST00000592977:exon8:c.744+2T>C)	.	.	0.999929727175276	0.866
18	11886710	A	T	18	11886711	y	y	splicing	MPPE1(NM_023075:exon9:c.744+2T>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon9:c.744+2T>A;ENST00000496196:exon9:c.744+2T>A;ENST00000317251:exon10:c.453+2T>A;ENST00000592306:exon2:c.84+2T>A;ENST00000587724:exon4:c.207+2T>A;ENST00000399978:exon9:c.747+2T>A;ENST00000592977:exon8:c.744+2T>A)	.	.	0.999988247793601	0.928
18	11886711	C	A	18	11886712	y	y	splicing	MPPE1(NM_023075:exon9:c.744+1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon9:c.744+1G>T;ENST00000496196:exon9:c.744+1G>T;ENST00000317251:exon10:c.453+1G>T;ENST00000592306:exon2:c.84+1G>T;ENST00000587724:exon4:c.207+1G>T;ENST00000399978:exon9:c.747+1G>T;ENST00000592977:exon8:c.744+1G>T)	.	.	0.999985532734767	0.936
18	11886711	C	G	18	11886712	y	y	splicing	MPPE1(NM_023075:exon9:c.744+1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon9:c.744+1G>C;ENST00000496196:exon9:c.744+1G>C;ENST00000317251:exon10:c.453+1G>C;ENST00000592306:exon2:c.84+1G>C;ENST00000587724:exon4:c.207+1G>C;ENST00000399978:exon9:c.747+1G>C;ENST00000592977:exon8:c.744+1G>C)	.	.	0.999985532734767	0.936
18	11886711	C	T	18	11886712	y	y	splicing	MPPE1(NM_023075:exon9:c.744+1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon9:c.744+1G>A;ENST00000496196:exon9:c.744+1G>A;ENST00000317251:exon10:c.453+1G>A;ENST00000592306:exon2:c.84+1G>A;ENST00000587724:exon4:c.207+1G>A;ENST00000399978:exon9:c.747+1G>A;ENST00000592977:exon8:c.744+1G>A)	.	.	0.999985532734767	0.936
18	11886712	C	A	18	11886713	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.G744T:p.Q248H;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G84T:p.Q28H;ENSG00000154889:ENST00000496196:exon8:c.G744T:p.Q248H;ENSG00000154889:ENST00000592977:exon7:c.G744T:p.Q248H;ENSG00000154889:ENST00000317251:exon9:c.G453T:p.Q151H;ENSG00000154889:ENST00000588072:exon8:c.G744T:p.Q248H;ENSG00000154889:ENST00000399978:exon8:c.G747T:p.Q249H;ENSG00000154889:ENST00000587724:exon3:c.G207T:p.Q69H;	0.999973147473037	0.998
18	11886712	C	G	18	11886713	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.G744C:p.Q248H;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G84C:p.Q28H;ENSG00000154889:ENST00000496196:exon8:c.G744C:p.Q248H;ENSG00000154889:ENST00000592977:exon7:c.G744C:p.Q248H;ENSG00000154889:ENST00000317251:exon9:c.G453C:p.Q151H;ENSG00000154889:ENST00000588072:exon8:c.G744C:p.Q248H;ENSG00000154889:ENST00000399978:exon8:c.G747C:p.Q249H;ENSG00000154889:ENST00000587724:exon3:c.G207C:p.Q69H;	0.99999538556915	1.0
18	11886712	C	T	18	11886713	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_023075:exon8:c.G744A:p.Q248Q;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G84A:p.Q28Q;ENSG00000154889:ENST00000496196:exon8:c.G744A:p.Q248Q;ENSG00000154889:ENST00000592977:exon7:c.G744A:p.Q248Q;ENSG00000154889:ENST00000317251:exon9:c.G453A:p.Q151Q;ENSG00000154889:ENST00000588072:exon8:c.G744A:p.Q248Q;ENSG00000154889:ENST00000399978:exon8:c.G747A:p.Q249Q;ENSG00000154889:ENST00000587724:exon3:c.G207A:p.Q69Q;	0.999535142468059	0.958
18	11886713	T	A	18	11886714	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.A743T:p.Q248L;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A83T:p.Q28L;ENSG00000154889:ENST00000496196:exon8:c.A743T:p.Q248L;ENSG00000154889:ENST00000592977:exon7:c.A743T:p.Q248L;ENSG00000154889:ENST00000317251:exon9:c.A452T:p.Q151L;ENSG00000154889:ENST00000588072:exon8:c.A743T:p.Q248L;ENSG00000154889:ENST00000399978:exon8:c.A746T:p.Q249L;ENSG00000154889:ENST00000587724:exon3:c.A206T:p.Q69L;	0.999718340852073	0.99
18	11886713	T	C	18	11886714	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.A743G:p.Q248R;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A83G:p.Q28R;ENSG00000154889:ENST00000496196:exon8:c.A743G:p.Q248R;ENSG00000154889:ENST00000592977:exon7:c.A743G:p.Q248R;ENSG00000154889:ENST00000317251:exon9:c.A452G:p.Q151R;ENSG00000154889:ENST00000588072:exon8:c.A743G:p.Q248R;ENSG00000154889:ENST00000399978:exon8:c.A746G:p.Q249R;ENSG00000154889:ENST00000587724:exon3:c.A206G:p.Q69R;	0.999811147425578	0.998
18	11886713	T	G	18	11886714	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.A743C:p.Q248P;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A83C:p.Q28P;ENSG00000154889:ENST00000496196:exon8:c.A743C:p.Q248P;ENSG00000154889:ENST00000592977:exon7:c.A743C:p.Q248P;ENSG00000154889:ENST00000317251:exon9:c.A452C:p.Q151P;ENSG00000154889:ENST00000588072:exon8:c.A743C:p.Q248P;ENSG00000154889:ENST00000399978:exon8:c.A746C:p.Q249P;ENSG00000154889:ENST00000587724:exon3:c.A206C:p.Q69P;	0.996912606766361	0.954
18	11886714	G	A	18	11886715	y	y	exonic	MPPE1	stopgain SNV	MPPE1:NM_023075:exon8:c.C742T:p.Q248X;	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000592306:exon1:c.C82T:p.Q28X;ENSG00000154889:ENST00000496196:exon8:c.C742T:p.Q248X;ENSG00000154889:ENST00000592977:exon7:c.C742T:p.Q248X;ENSG00000154889:ENST00000317251:exon9:c.C451T:p.Q151X;ENSG00000154889:ENST00000588072:exon8:c.C742T:p.Q248X;ENSG00000154889:ENST00000399978:exon8:c.C745T:p.Q249X;ENSG00000154889:ENST00000587724:exon3:c.C205T:p.Q69X;	0.99695535672277	0.882
18	11886714	G	C	18	11886715	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.C742G:p.Q248E;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C82G:p.Q28E;ENSG00000154889:ENST00000496196:exon8:c.C742G:p.Q248E;ENSG00000154889:ENST00000592977:exon7:c.C742G:p.Q248E;ENSG00000154889:ENST00000317251:exon9:c.C451G:p.Q151E;ENSG00000154889:ENST00000588072:exon8:c.C742G:p.Q248E;ENSG00000154889:ENST00000399978:exon8:c.C745G:p.Q249E;ENSG00000154889:ENST00000587724:exon3:c.C205G:p.Q69E;	0.842764456740647	0.68
18	11886714	G	T	18	11886715	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.C742A:p.Q248K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C82A:p.Q28K;ENSG00000154889:ENST00000496196:exon8:c.C742A:p.Q248K;ENSG00000154889:ENST00000592977:exon7:c.C742A:p.Q248K;ENSG00000154889:ENST00000317251:exon9:c.C451A:p.Q151K;ENSG00000154889:ENST00000588072:exon8:c.C742A:p.Q248K;ENSG00000154889:ENST00000399978:exon8:c.C745A:p.Q249K;ENSG00000154889:ENST00000587724:exon3:c.C205A:p.Q69K;	0.913957184047858	0.81
18	11886776	G	A	18	11886777	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.C680T:p.A227V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C20T:p.A7V;ENSG00000154889:ENST00000496196:exon8:c.C680T:p.A227V;ENSG00000154889:ENST00000592977:exon7:c.C680T:p.A227V;ENSG00000154889:ENST00000317251:exon9:c.C389T:p.A130V;ENSG00000154889:ENST00000588072:exon8:c.C680T:p.A227V;ENSG00000154889:ENST00000399978:exon8:c.C683T:p.A228V;ENSG00000154889:ENST00000587724:exon3:c.C143T:p.A48V;ENSG00000154889:ENST00000592331:exon7:c.C461T:p.A154V;	1.86531525981736E-5	.
18	11886776	G	C	18	11886777	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.C680G:p.A227G;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C20G:p.A7G;ENSG00000154889:ENST00000496196:exon8:c.C680G:p.A227G;ENSG00000154889:ENST00000592977:exon7:c.C680G:p.A227G;ENSG00000154889:ENST00000317251:exon9:c.C389G:p.A130G;ENSG00000154889:ENST00000588072:exon8:c.C680G:p.A227G;ENSG00000154889:ENST00000399978:exon8:c.C683G:p.A228G;ENSG00000154889:ENST00000587724:exon3:c.C143G:p.A48G;ENSG00000154889:ENST00000592331:exon7:c.C461G:p.A154G;	7.06962630538887E-6	.
18	11886776	G	T	18	11886777	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.C680A:p.A227E;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C20A:p.A7E;ENSG00000154889:ENST00000496196:exon8:c.C680A:p.A227E;ENSG00000154889:ENST00000592977:exon7:c.C680A:p.A227E;ENSG00000154889:ENST00000317251:exon9:c.C389A:p.A130E;ENSG00000154889:ENST00000588072:exon8:c.C680A:p.A227E;ENSG00000154889:ENST00000399978:exon8:c.C683A:p.A228E;ENSG00000154889:ENST00000587724:exon3:c.C143A:p.A48E;ENSG00000154889:ENST00000592331:exon7:c.C461A:p.A154E;	3.11134918839092E-4	.
18	11886777	C	A	18	11886778	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.G679T:p.A227S;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G19T:p.A7S;ENSG00000154889:ENST00000496196:exon8:c.G679T:p.A227S;ENSG00000154889:ENST00000592977:exon7:c.G679T:p.A227S;ENSG00000154889:ENST00000317251:exon9:c.G388T:p.A130S;ENSG00000154889:ENST00000588072:exon8:c.G679T:p.A227S;ENSG00000154889:ENST00000399978:exon8:c.G682T:p.A228S;ENSG00000154889:ENST00000587724:exon3:c.G142T:p.A48S;ENSG00000154889:ENST00000592331:exon7:c.G460T:p.A154S;	0.681680182334846	.
18	11886777	C	G	18	11886778	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.G679C:p.A227P;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G19C:p.A7P;ENSG00000154889:ENST00000496196:exon8:c.G679C:p.A227P;ENSG00000154889:ENST00000592977:exon7:c.G679C:p.A227P;ENSG00000154889:ENST00000317251:exon9:c.G388C:p.A130P;ENSG00000154889:ENST00000588072:exon8:c.G679C:p.A227P;ENSG00000154889:ENST00000399978:exon8:c.G682C:p.A228P;ENSG00000154889:ENST00000587724:exon3:c.G142C:p.A48P;ENSG00000154889:ENST00000592331:exon7:c.G460C:p.A154P;	0.884603097238625	.
18	11886777	C	T	18	11886778	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_023075:exon8:c.G679A:p.A227T;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G19A:p.A7T;ENSG00000154889:ENST00000496196:exon8:c.G679A:p.A227T;ENSG00000154889:ENST00000592977:exon7:c.G679A:p.A227T;ENSG00000154889:ENST00000317251:exon9:c.G388A:p.A130T;ENSG00000154889:ENST00000588072:exon8:c.G679A:p.A227T;ENSG00000154889:ENST00000399978:exon8:c.G682A:p.A228T;ENSG00000154889:ENST00000587724:exon3:c.G142A:p.A48T;ENSG00000154889:ENST00000592331:exon7:c.G460A:p.A154T;	0.0456515359293343	.
18	11886778	C	A	18	11886779	y	n	splicing	MPPE1(NM_023075:exon9:c.679-1G>T)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon9:c.679-1G>T;ENST00000496196:exon9:c.679-1G>T;ENST00000317251:exon10:c.388-1G>T;ENST00000592977:exon8:c.679-1G>T)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G18T:p.Q6H;ENSG00000154889:ENST00000399978:exon8:c.G681T:p.Q227H;ENSG00000154889:ENST00000587724:exon3:c.G141T:p.Q47H;ENSG00000154889:ENST00000592331:exon7:c.G459T:p.Q153H;	0.999865533486684	.
18	11886778	C	G	18	11886779	y	n	splicing	MPPE1(NM_023075:exon9:c.679-1G>C)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon9:c.679-1G>C;ENST00000496196:exon9:c.679-1G>C;ENST00000317251:exon10:c.388-1G>C;ENST00000592977:exon8:c.679-1G>C)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G18C:p.Q6H;ENSG00000154889:ENST00000399978:exon8:c.G681C:p.Q227H;ENSG00000154889:ENST00000587724:exon3:c.G141C:p.Q47H;ENSG00000154889:ENST00000592331:exon7:c.G459C:p.Q153H;	0.999860843576891	.
18	11886778	C	T	18	11886779	y	n	splicing	MPPE1(NM_023075:exon9:c.679-1G>A)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon9:c.679-1G>A;ENST00000496196:exon9:c.679-1G>A;ENST00000317251:exon10:c.388-1G>A;ENST00000592977:exon8:c.679-1G>A)	synonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G18A:p.Q6Q;ENSG00000154889:ENST00000399978:exon8:c.G681A:p.Q227Q;ENSG00000154889:ENST00000587724:exon3:c.G141A:p.Q47Q;ENSG00000154889:ENST00000592331:exon7:c.G459A:p.Q153Q;	0.999865533486684	.
18	11886779	T	A	18	11886780	y	n	splicing	MPPE1(NM_023075:exon9:c.679-2A>T)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon9:c.679-2A>T;ENST00000496196:exon9:c.679-2A>T;ENST00000317251:exon10:c.388-2A>T;ENST00000592977:exon8:c.679-2A>T)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A17T:p.Q6L;ENSG00000154889:ENST00000399978:exon8:c.A680T:p.Q227L;ENSG00000154889:ENST00000587724:exon3:c.A140T:p.Q47L;ENSG00000154889:ENST00000592331:exon7:c.A458T:p.Q153L;	0.999746018218809	.
18	11886779	T	C	18	11886780	y	n	splicing	MPPE1(NM_023075:exon9:c.679-2A>G)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon9:c.679-2A>G;ENST00000496196:exon9:c.679-2A>G;ENST00000317251:exon10:c.388-2A>G;ENST00000592977:exon8:c.679-2A>G)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A17G:p.Q6R;ENSG00000154889:ENST00000399978:exon8:c.A680G:p.Q227R;ENSG00000154889:ENST00000587724:exon3:c.A140G:p.Q47R;ENSG00000154889:ENST00000592331:exon7:c.A458G:p.Q153R;	0.999733832293819	.
18	11886779	T	G	18	11886780	y	n	splicing	MPPE1(NM_023075:exon9:c.679-2A>C)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon9:c.679-2A>C;ENST00000496196:exon9:c.679-2A>C;ENST00000317251:exon10:c.388-2A>C;ENST00000592977:exon8:c.679-2A>C)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A17C:p.Q6P;ENSG00000154889:ENST00000399978:exon8:c.A680C:p.Q227P;ENSG00000154889:ENST00000587724:exon3:c.A140C:p.Q47P;ENSG00000154889:ENST00000592331:exon7:c.A458C:p.Q153P;	0.999733832293819	.
18	11886780	G	A	18	11886781	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000592306:exon1:c.C16T:p.Q6X;ENSG00000154889:ENST00000399978:exon8:c.C679T:p.Q227X;ENSG00000154889:ENST00000587724:exon3:c.C139T:p.Q47X;ENSG00000154889:ENST00000592331:exon7:c.C457T:p.Q153X;	0.991585625520299	.
18	11886780	G	C	18	11886781	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C16G:p.Q6E;ENSG00000154889:ENST00000399978:exon8:c.C679G:p.Q227E;ENSG00000154889:ENST00000587724:exon3:c.C139G:p.Q47E;ENSG00000154889:ENST00000592331:exon7:c.C457G:p.Q153E;	0.999869087252641	.
18	11886780	G	T	18	11886781	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C16A:p.Q6K;ENSG00000154889:ENST00000399978:exon8:c.C679A:p.Q227K;ENSG00000154889:ENST00000587724:exon3:c.C139A:p.Q47K;ENSG00000154889:ENST00000592331:exon7:c.C457A:p.Q153K;	0.999433941366048	.
18	11886781	C	A	18	11886782	y	n	intronic	MPPE1	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000587724:exon4:c.139-1G>T;ENST00000399978:exon9:c.679-1G>T;ENST00000592331:exon8:c.457-1G>T)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G15T:p.Q5H;	0.00111669303874082	.
18	11886781	C	G	18	11886782	y	n	intronic	MPPE1	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000587724:exon4:c.139-1G>C;ENST00000399978:exon9:c.679-1G>C;ENST00000592331:exon8:c.457-1G>C)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G15C:p.Q5H;	0.00222662555902907	.
18	11886781	C	T	18	11886782	y	n	intronic	MPPE1	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000587724:exon4:c.139-1G>A;ENST00000399978:exon9:c.679-1G>A;ENST00000592331:exon8:c.457-1G>A)	synonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G15A:p.Q5Q;	0.00474707080304099	.
18	11886782	T	A	18	11886783	y	n	intronic	MPPE1	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000587724:exon4:c.139-2A>T;ENST00000399978:exon9:c.679-2A>T;ENST00000592331:exon8:c.457-2A>T)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A14T:p.Q5L;	1.2111203792188E-4	.
18	11886782	T	C	18	11886783	y	n	intronic	MPPE1	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000587724:exon4:c.139-2A>G;ENST00000399978:exon9:c.679-2A>G;ENST00000592331:exon8:c.457-2A>G)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A14G:p.Q5R;	1.14651626145993E-4	.
18	11886782	T	G	18	11886783	y	n	intronic	MPPE1	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000587724:exon4:c.139-2A>C;ENST00000399978:exon9:c.679-2A>C;ENST00000592331:exon8:c.457-2A>C)	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A14C:p.Q5P;	1.2111203792188E-4	.
18	11886783	G	A	18	11886784	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000592306:exon1:c.C13T:p.Q5X;	6.81143113599897E-4	.
18	11886783	G	C	18	11886784	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C13G:p.Q5E;	0.64483758665694	.
18	11886783	G	T	18	11886784	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C13A:p.Q5K;	0.107690883369934	.
18	11886784	G	A	18	11886785	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C12T:p.T4T;	4.46363457327535E-5	.
18	11886784	G	C	18	11886785	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C12G:p.T4T;	0.929315281831506	.
18	11886784	G	T	18	11886785	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C12A:p.T4T;	0.805190159566166	.
18	11886785	G	A	18	11886786	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C11T:p.T4I;	1.06518491957935E-4	.
18	11886785	G	C	18	11886786	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C11G:p.T4S;	0.895299299096827	.
18	11886785	G	T	18	11886786	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.C11A:p.T4N;	8.25128945679728E-4	.
18	11886786	T	A	18	11886787	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A10T:p.T4S;	4.42951236021517E-5	.
18	11886786	T	C	18	11886787	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A10G:p.T4A;	7.56232956360494E-5	.
18	11886786	T	G	18	11886787	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.A10C:p.T4P;	4.42951236021517E-5	.
18	11886787	A	C	18	11886788	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.T9G:p.C3W;	0.980063742048035	.
18	11886787	A	G	18	11886788	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.T9C:p.C3C;	0.00897388805074303	.
18	11886787	A	T	18	11886788	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000592306:exon1:c.T9A:p.C3X;	0.99213375990046	.
18	11886788	C	A	18	11886789	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G8T:p.C3F;	3.00684534904205E-5	.
18	11886788	C	G	18	11886789	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G8C:p.C3S;	2.06481237244302E-5	.
18	11886788	C	T	18	11886789	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.G8A:p.C3Y;	2.19648048378435E-5	.
18	11886789	A	C	18	11886790	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.T7G:p.C3G;	0.907246109779157	.
18	11886789	A	G	18	11886790	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.T7C:p.C3R;	0.00455759465521659	.
18	11886789	A	T	18	11886790	y	n	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592306:exon1:c.T7A:p.C3S;	0.999106865009291	.
18	11886908	T	A	18	11886909	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.42863973527116E-5	0.0
18	11886908	T	C	18	11886909	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.42863973527116E-5	0.002
18	11886908	T	G	18	11886909	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.78389654127837E-5	0.0
18	11886909	C	A	18	11886910	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.70604693036619E-5	0.0
18	11886909	C	G	18	11886910	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.16098261087877E-4	0.0
18	11886909	C	T	18	11886910	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.92174651793207E-4	0.0
18	11886910	T	A	18	11886911	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.98501777021816E-5	0.0
18	11886910	T	C	18	11886911	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.68770080555521E-4	0.002
18	11886910	T	G	18	11886911	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.50487941933462E-5	0.012
18	11886911	C	A	18	11886912	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999971601213059	0.894
18	11886911	C	G	18	11886912	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999902370592141	0.904
18	11886911	C	T	18	11886912	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999586005983645	0.904
18	11886912	C	A	18	11886913	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.94727873745095E-4	0.074
18	11886912	C	G	18	11886913	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00210963153816578	0.148
18	11886912	C	T	18	11886913	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.95819105184758E-4	0.118
18	11886913	T	A	18	11886914	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.99152517377552	0.896
18	11886913	T	C	18	11886914	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.97083528099666	0.61
18	11886913	T	G	18	11886914	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.995282112454337	0.904
18	11886914	A	C	18	11886915	y	y	splicing	MPPE1(NM_001242904:exon7:c.678+2T>G;NM_023075:exon8:c.678+2T>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.678+2T>G;ENST00000317235:exon8:c.678+2T>G;ENST00000496196:exon8:c.678+2T>G;ENST00000309976:exon7:c.678+2T>G;ENST00000317251:exon9:c.387+2T>G;ENST00000344987:exon8:c.678+2T>G;ENST00000587724:exon3:c.138+2T>G;ENST00000399978:exon8:c.678+2T>G;ENST00000592977:exon7:c.678+2T>G;ENST00000592331:exon7:c.456+2T>G)	.	.	0.999966514958823	0.932
18	11886914	A	G	18	11886915	y	y	splicing	MPPE1(NM_001242904:exon7:c.678+2T>C;NM_023075:exon8:c.678+2T>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.678+2T>C;ENST00000317235:exon8:c.678+2T>C;ENST00000496196:exon8:c.678+2T>C;ENST00000309976:exon7:c.678+2T>C;ENST00000317251:exon9:c.387+2T>C;ENST00000344987:exon8:c.678+2T>C;ENST00000587724:exon3:c.138+2T>C;ENST00000399978:exon8:c.678+2T>C;ENST00000592977:exon7:c.678+2T>C;ENST00000592331:exon7:c.456+2T>C)	.	.	0.967810124643345	0.6
18	11886914	A	T	18	11886915	y	y	splicing	MPPE1(NM_001242904:exon7:c.678+2T>A;NM_023075:exon8:c.678+2T>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.678+2T>A;ENST00000317235:exon8:c.678+2T>A;ENST00000496196:exon8:c.678+2T>A;ENST00000309976:exon7:c.678+2T>A;ENST00000317251:exon9:c.387+2T>A;ENST00000344987:exon8:c.678+2T>A;ENST00000587724:exon3:c.138+2T>A;ENST00000399978:exon8:c.678+2T>A;ENST00000592977:exon7:c.678+2T>A;ENST00000592331:exon7:c.456+2T>A)	.	.	0.999966514958823	0.938
18	11886915	C	A	18	11886916	y	y	splicing	MPPE1(NM_001242904:exon7:c.678+1G>T;NM_023075:exon8:c.678+1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.678+1G>T;ENST00000317235:exon8:c.678+1G>T;ENST00000496196:exon8:c.678+1G>T;ENST00000309976:exon7:c.678+1G>T;ENST00000317251:exon9:c.387+1G>T;ENST00000344987:exon8:c.678+1G>T;ENST00000587724:exon3:c.138+1G>T;ENST00000399978:exon8:c.678+1G>T;ENST00000592977:exon7:c.678+1G>T;ENST00000592331:exon7:c.456+1G>T)	.	.	0.999916487880886	0.952
18	11886915	C	G	18	11886916	y	y	splicing	MPPE1(NM_001242904:exon7:c.678+1G>C;NM_023075:exon8:c.678+1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.678+1G>C;ENST00000317235:exon8:c.678+1G>C;ENST00000496196:exon8:c.678+1G>C;ENST00000309976:exon7:c.678+1G>C;ENST00000317251:exon9:c.387+1G>C;ENST00000344987:exon8:c.678+1G>C;ENST00000587724:exon3:c.138+1G>C;ENST00000399978:exon8:c.678+1G>C;ENST00000592977:exon7:c.678+1G>C;ENST00000592331:exon7:c.456+1G>C)	.	.	0.999916487880886	0.95
18	11886915	C	T	18	11886916	y	y	splicing	MPPE1(NM_001242904:exon7:c.678+1G>A;NM_023075:exon8:c.678+1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.678+1G>A;ENST00000317235:exon8:c.678+1G>A;ENST00000496196:exon8:c.678+1G>A;ENST00000309976:exon7:c.678+1G>A;ENST00000317251:exon9:c.387+1G>A;ENST00000344987:exon8:c.678+1G>A;ENST00000587724:exon3:c.138+1G>A;ENST00000399978:exon8:c.678+1G>A;ENST00000592977:exon7:c.678+1G>A;ENST00000592331:exon7:c.456+1G>A)	.	.	0.999916487880886	0.952
18	11886916	C	A	18	11886917	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.G678T:p.E226D;MPPE1:NM_023075:exon7:c.G678T:p.E226D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.G678T:p.E226D;ENSG00000154889:ENST00000496196:exon7:c.G678T:p.E226D;ENSG00000154889:ENST00000317235:exon7:c.G678T:p.E226D;ENSG00000154889:ENST00000592977:exon6:c.G678T:p.E226D;ENSG00000154889:ENST00000317251:exon8:c.G387T:p.E129D;ENSG00000154889:ENST00000309976:exon6:c.G678T:p.E226D;ENSG00000154889:ENST00000588072:exon7:c.G678T:p.E226D;ENSG00000154889:ENST00000399978:exon7:c.G678T:p.E226D;ENSG00000154889:ENST00000587724:exon2:c.G138T:p.E46D;ENSG00000154889:ENST00000592331:exon6:c.G456T:p.E152D;	0.999968614255347	0.934
18	11886916	C	G	18	11886917	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.G678C:p.E226D;MPPE1:NM_023075:exon7:c.G678C:p.E226D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.G678C:p.E226D;ENSG00000154889:ENST00000496196:exon7:c.G678C:p.E226D;ENSG00000154889:ENST00000317235:exon7:c.G678C:p.E226D;ENSG00000154889:ENST00000592977:exon6:c.G678C:p.E226D;ENSG00000154889:ENST00000317251:exon8:c.G387C:p.E129D;ENSG00000154889:ENST00000309976:exon6:c.G678C:p.E226D;ENSG00000154889:ENST00000588072:exon7:c.G678C:p.E226D;ENSG00000154889:ENST00000399978:exon7:c.G678C:p.E226D;ENSG00000154889:ENST00000587724:exon2:c.G138C:p.E46D;ENSG00000154889:ENST00000592331:exon6:c.G456C:p.E152D;	0.999962510755185	0.942
18	11886916	C	T	18	11886917	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon6:c.G678A:p.E226E;MPPE1:NM_023075:exon7:c.G678A:p.E226E;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.G678A:p.E226E;ENSG00000154889:ENST00000496196:exon7:c.G678A:p.E226E;ENSG00000154889:ENST00000317235:exon7:c.G678A:p.E226E;ENSG00000154889:ENST00000592977:exon6:c.G678A:p.E226E;ENSG00000154889:ENST00000317251:exon8:c.G387A:p.E129E;ENSG00000154889:ENST00000309976:exon6:c.G678A:p.E226E;ENSG00000154889:ENST00000588072:exon7:c.G678A:p.E226E;ENSG00000154889:ENST00000399978:exon7:c.G678A:p.E226E;ENSG00000154889:ENST00000587724:exon2:c.G138A:p.E46E;ENSG00000154889:ENST00000592331:exon6:c.G456A:p.E152E;	0.999920124455601	0.99
18	11886917	T	A	18	11886918	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.A677T:p.E226V;MPPE1:NM_023075:exon7:c.A677T:p.E226V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.A677T:p.E226V;ENSG00000154889:ENST00000496196:exon7:c.A677T:p.E226V;ENSG00000154889:ENST00000317235:exon7:c.A677T:p.E226V;ENSG00000154889:ENST00000592977:exon6:c.A677T:p.E226V;ENSG00000154889:ENST00000317251:exon8:c.A386T:p.E129V;ENSG00000154889:ENST00000309976:exon6:c.A677T:p.E226V;ENSG00000154889:ENST00000588072:exon7:c.A677T:p.E226V;ENSG00000154889:ENST00000399978:exon7:c.A677T:p.E226V;ENSG00000154889:ENST00000587724:exon2:c.A137T:p.E46V;ENSG00000154889:ENST00000592331:exon6:c.A455T:p.E152V;	0.990580957389129	0.75
18	11886917	T	C	18	11886918	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.A677G:p.E226G;MPPE1:NM_023075:exon7:c.A677G:p.E226G;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.A677G:p.E226G;ENSG00000154889:ENST00000496196:exon7:c.A677G:p.E226G;ENSG00000154889:ENST00000317235:exon7:c.A677G:p.E226G;ENSG00000154889:ENST00000592977:exon6:c.A677G:p.E226G;ENSG00000154889:ENST00000317251:exon8:c.A386G:p.E129G;ENSG00000154889:ENST00000309976:exon6:c.A677G:p.E226G;ENSG00000154889:ENST00000588072:exon7:c.A677G:p.E226G;ENSG00000154889:ENST00000399978:exon7:c.A677G:p.E226G;ENSG00000154889:ENST00000587724:exon2:c.A137G:p.E46G;ENSG00000154889:ENST00000592331:exon6:c.A455G:p.E152G;	0.994944900045594	0.786
18	11886917	T	G	18	11886918	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.A677C:p.E226A;MPPE1:NM_023075:exon7:c.A677C:p.E226A;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.A677C:p.E226A;ENSG00000154889:ENST00000496196:exon7:c.A677C:p.E226A;ENSG00000154889:ENST00000317235:exon7:c.A677C:p.E226A;ENSG00000154889:ENST00000592977:exon6:c.A677C:p.E226A;ENSG00000154889:ENST00000317251:exon8:c.A386C:p.E129A;ENSG00000154889:ENST00000309976:exon6:c.A677C:p.E226A;ENSG00000154889:ENST00000588072:exon7:c.A677C:p.E226A;ENSG00000154889:ENST00000399978:exon7:c.A677C:p.E226A;ENSG00000154889:ENST00000587724:exon2:c.A137C:p.E46A;ENSG00000154889:ENST00000592331:exon6:c.A455C:p.E152A;	0.403390970183308	0.516
18	11886918	C	A	18	11886919	y	y	exonic	MPPE1	stopgain SNV	MPPE1:NM_001242904:exon6:c.G676T:p.E226X;MPPE1:NM_023075:exon7:c.G676T:p.E226X;	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000344987:exon7:c.G676T:p.E226X;ENSG00000154889:ENST00000496196:exon7:c.G676T:p.E226X;ENSG00000154889:ENST00000317235:exon7:c.G676T:p.E226X;ENSG00000154889:ENST00000592977:exon6:c.G676T:p.E226X;ENSG00000154889:ENST00000317251:exon8:c.G385T:p.E129X;ENSG00000154889:ENST00000309976:exon6:c.G676T:p.E226X;ENSG00000154889:ENST00000588072:exon7:c.G676T:p.E226X;ENSG00000154889:ENST00000399978:exon7:c.G676T:p.E226X;ENSG00000154889:ENST00000587724:exon2:c.G136T:p.E46X;ENSG00000154889:ENST00000592331:exon6:c.G454T:p.E152X;	4.01171698455023E-4	0.16
18	11886918	C	G	18	11886919	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.G676C:p.E226Q;MPPE1:NM_023075:exon7:c.G676C:p.E226Q;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.G676C:p.E226Q;ENSG00000154889:ENST00000496196:exon7:c.G676C:p.E226Q;ENSG00000154889:ENST00000317235:exon7:c.G676C:p.E226Q;ENSG00000154889:ENST00000592977:exon6:c.G676C:p.E226Q;ENSG00000154889:ENST00000317251:exon8:c.G385C:p.E129Q;ENSG00000154889:ENST00000309976:exon6:c.G676C:p.E226Q;ENSG00000154889:ENST00000588072:exon7:c.G676C:p.E226Q;ENSG00000154889:ENST00000399978:exon7:c.G676C:p.E226Q;ENSG00000154889:ENST00000587724:exon2:c.G136C:p.E46Q;ENSG00000154889:ENST00000592331:exon6:c.G454C:p.E152Q;	3.68876204923518E-5	0.0
18	11886918	C	T	18	11886919	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.G676A:p.E226K;MPPE1:NM_023075:exon7:c.G676A:p.E226K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.G676A:p.E226K;ENSG00000154889:ENST00000496196:exon7:c.G676A:p.E226K;ENSG00000154889:ENST00000317235:exon7:c.G676A:p.E226K;ENSG00000154889:ENST00000592977:exon6:c.G676A:p.E226K;ENSG00000154889:ENST00000317251:exon8:c.G385A:p.E129K;ENSG00000154889:ENST00000309976:exon6:c.G676A:p.E226K;ENSG00000154889:ENST00000588072:exon7:c.G676A:p.E226K;ENSG00000154889:ENST00000399978:exon7:c.G676A:p.E226K;ENSG00000154889:ENST00000587724:exon2:c.G136A:p.E46K;ENSG00000154889:ENST00000592331:exon6:c.G454A:p.E152K;	3.31031713503319E-5	0.0
18	11887023	A	C	18	11887024	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.T571G:p.F191V;MPPE1:NM_023075:exon7:c.T571G:p.F191V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.T571G:p.F191V;ENSG00000154889:ENST00000496196:exon7:c.T571G:p.F191V;ENSG00000154889:ENST00000317235:exon7:c.T571G:p.F191V;ENSG00000154889:ENST00000592977:exon6:c.T571G:p.F191V;ENSG00000154889:ENST00000317251:exon8:c.T280G:p.F94V;ENSG00000154889:ENST00000309976:exon6:c.T571G:p.F191V;ENSG00000154889:ENST00000588072:exon7:c.T571G:p.F191V;ENSG00000154889:ENST00000399978:exon7:c.T571G:p.F191V;ENSG00000154889:ENST00000587724:exon2:c.T31G:p.F11V;ENSG00000154889:ENST00000592331:exon6:c.T349G:p.F117V;	0.0962502199998886	0.562
18	11887023	A	G	18	11887024	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.T571C:p.F191L;MPPE1:NM_023075:exon7:c.T571C:p.F191L;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.T571C:p.F191L;ENSG00000154889:ENST00000496196:exon7:c.T571C:p.F191L;ENSG00000154889:ENST00000317235:exon7:c.T571C:p.F191L;ENSG00000154889:ENST00000592977:exon6:c.T571C:p.F191L;ENSG00000154889:ENST00000317251:exon8:c.T280C:p.F94L;ENSG00000154889:ENST00000309976:exon6:c.T571C:p.F191L;ENSG00000154889:ENST00000588072:exon7:c.T571C:p.F191L;ENSG00000154889:ENST00000399978:exon7:c.T571C:p.F191L;ENSG00000154889:ENST00000587724:exon2:c.T31C:p.F11L;ENSG00000154889:ENST00000592331:exon6:c.T349C:p.F117L;	0.192137409096027	0.558
18	11887023	A	T	18	11887024	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.T571A:p.F191I;MPPE1:NM_023075:exon7:c.T571A:p.F191I;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.T571A:p.F191I;ENSG00000154889:ENST00000496196:exon7:c.T571A:p.F191I;ENSG00000154889:ENST00000317235:exon7:c.T571A:p.F191I;ENSG00000154889:ENST00000592977:exon6:c.T571A:p.F191I;ENSG00000154889:ENST00000317251:exon8:c.T280A:p.F94I;ENSG00000154889:ENST00000309976:exon6:c.T571A:p.F191I;ENSG00000154889:ENST00000588072:exon7:c.T571A:p.F191I;ENSG00000154889:ENST00000399978:exon7:c.T571A:p.F191I;ENSG00000154889:ENST00000587724:exon2:c.T31A:p.F11I;ENSG00000154889:ENST00000592331:exon6:c.T349A:p.F117I;	0.114394584695151	0.516
18	11887024	G	A	18	11887025	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon6:c.C570T:p.N190N;MPPE1:NM_023075:exon7:c.C570T:p.N190N;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.C570T:p.N190N;ENSG00000154889:ENST00000496196:exon7:c.C570T:p.N190N;ENSG00000154889:ENST00000317235:exon7:c.C570T:p.N190N;ENSG00000154889:ENST00000592977:exon6:c.C570T:p.N190N;ENSG00000154889:ENST00000317251:exon8:c.C279T:p.N93N;ENSG00000154889:ENST00000309976:exon6:c.C570T:p.N190N;ENSG00000154889:ENST00000588072:exon7:c.C570T:p.N190N;ENSG00000154889:ENST00000399978:exon7:c.C570T:p.N190N;ENSG00000154889:ENST00000587724:exon2:c.C30T:p.D10D;ENSG00000154889:ENST00000592331:exon6:c.C348T:p.N116N;	4.21697859420366E-5	0.036
18	11887024	G	C	18	11887025	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.C570G:p.N190K;MPPE1:NM_023075:exon7:c.C570G:p.N190K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.C570G:p.N190K;ENSG00000154889:ENST00000496196:exon7:c.C570G:p.N190K;ENSG00000154889:ENST00000317235:exon7:c.C570G:p.N190K;ENSG00000154889:ENST00000592977:exon6:c.C570G:p.N190K;ENSG00000154889:ENST00000317251:exon8:c.C279G:p.N93K;ENSG00000154889:ENST00000309976:exon6:c.C570G:p.N190K;ENSG00000154889:ENST00000588072:exon7:c.C570G:p.N190K;ENSG00000154889:ENST00000399978:exon7:c.C570G:p.N190K;ENSG00000154889:ENST00000587724:exon2:c.C30G:p.D10E;ENSG00000154889:ENST00000592331:exon6:c.C348G:p.N116K;	5.02786588016623E-5	0.096
18	11887024	G	T	18	11887025	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon6:c.C570A:p.N190K;MPPE1:NM_023075:exon7:c.C570A:p.N190K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon7:c.C570A:p.N190K;ENSG00000154889:ENST00000496196:exon7:c.C570A:p.N190K;ENSG00000154889:ENST00000317235:exon7:c.C570A:p.N190K;ENSG00000154889:ENST00000592977:exon6:c.C570A:p.N190K;ENSG00000154889:ENST00000317251:exon8:c.C279A:p.N93K;ENSG00000154889:ENST00000309976:exon6:c.C570A:p.N190K;ENSG00000154889:ENST00000588072:exon7:c.C570A:p.N190K;ENSG00000154889:ENST00000399978:exon7:c.C570A:p.N190K;ENSG00000154889:ENST00000587724:exon2:c.C30A:p.D10E;ENSG00000154889:ENST00000592331:exon6:c.C348A:p.N116K;	3.07022954154004E-6	0.04
18	11887025	C	A	18	11887026	y	y	splicing	MPPE1(NM_001242904:exon7:c.570-1G>T;NM_023075:exon8:c.570-1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.570-1G>T;ENST00000317235:exon8:c.570-1G>T;ENST00000496196:exon8:c.570-1G>T;ENST00000309976:exon7:c.570-1G>T;ENST00000317251:exon9:c.279-1G>T;ENST00000344987:exon8:c.570-1G>T;ENST00000587724:exon3:c.30-1G>T;ENST00000399978:exon8:c.570-1G>T;ENST00000592977:exon7:c.570-1G>T;ENST00000592331:exon7:c.348-1G>T)	.	.	0.999981760802075	0.938
18	11887025	C	G	18	11887026	y	y	splicing	MPPE1(NM_001242904:exon7:c.570-1G>C;NM_023075:exon8:c.570-1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.570-1G>C;ENST00000317235:exon8:c.570-1G>C;ENST00000496196:exon8:c.570-1G>C;ENST00000309976:exon7:c.570-1G>C;ENST00000317251:exon9:c.279-1G>C;ENST00000344987:exon8:c.570-1G>C;ENST00000587724:exon3:c.30-1G>C;ENST00000399978:exon8:c.570-1G>C;ENST00000592977:exon7:c.570-1G>C;ENST00000592331:exon7:c.348-1G>C)	.	.	0.999981760802075	0.938
18	11887025	C	T	18	11887026	y	y	splicing	MPPE1(NM_001242904:exon7:c.570-1G>A;NM_023075:exon8:c.570-1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.570-1G>A;ENST00000317235:exon8:c.570-1G>A;ENST00000496196:exon8:c.570-1G>A;ENST00000309976:exon7:c.570-1G>A;ENST00000317251:exon9:c.279-1G>A;ENST00000344987:exon8:c.570-1G>A;ENST00000587724:exon3:c.30-1G>A;ENST00000399978:exon8:c.570-1G>A;ENST00000592977:exon7:c.570-1G>A;ENST00000592331:exon7:c.348-1G>A)	.	.	0.999981760802075	0.938
18	11887026	T	A	18	11887027	y	y	splicing	MPPE1(NM_001242904:exon7:c.570-2A>T;NM_023075:exon8:c.570-2A>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.570-2A>T;ENST00000317235:exon8:c.570-2A>T;ENST00000496196:exon8:c.570-2A>T;ENST00000309976:exon7:c.570-2A>T;ENST00000317251:exon9:c.279-2A>T;ENST00000344987:exon8:c.570-2A>T;ENST00000587724:exon3:c.30-2A>T;ENST00000399978:exon8:c.570-2A>T;ENST00000592977:exon7:c.570-2A>T;ENST00000592331:exon7:c.348-2A>T)	.	.	0.999989917668626	0.926
18	11887026	T	C	18	11887027	y	y	splicing	MPPE1(NM_001242904:exon7:c.570-2A>G;NM_023075:exon8:c.570-2A>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.570-2A>G;ENST00000317235:exon8:c.570-2A>G;ENST00000496196:exon8:c.570-2A>G;ENST00000309976:exon7:c.570-2A>G;ENST00000317251:exon9:c.279-2A>G;ENST00000344987:exon8:c.570-2A>G;ENST00000587724:exon3:c.30-2A>G;ENST00000399978:exon8:c.570-2A>G;ENST00000592977:exon7:c.570-2A>G;ENST00000592331:exon7:c.348-2A>G)	.	.	0.999989917668626	0.926
18	11887026	T	G	18	11887027	y	y	splicing	MPPE1(NM_001242904:exon7:c.570-2A>C;NM_023075:exon8:c.570-2A>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon8:c.570-2A>C;ENST00000317235:exon8:c.570-2A>C;ENST00000496196:exon8:c.570-2A>C;ENST00000309976:exon7:c.570-2A>C;ENST00000317251:exon9:c.279-2A>C;ENST00000344987:exon8:c.570-2A>C;ENST00000587724:exon3:c.30-2A>C;ENST00000399978:exon8:c.570-2A>C;ENST00000592977:exon7:c.570-2A>C;ENST00000592331:exon7:c.348-2A>C)	.	.	0.999989917668626	0.926
18	11887027	G	A	18	11887028	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0600999227432709	0.166
18	11887027	G	C	18	11887028	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999843749701565	0.966
18	11887027	G	T	18	11887028	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.991130387778961	0.87
18	11887028	A	C	18	11887029	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.33434511323822E-5	0.0
18	11887028	A	G	18	11887029	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.07592370044E-5	0.0
18	11887028	A	T	18	11887029	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.2050937513442E-5	0.0
18	11887029	A	C	18	11887030	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0296719400824656	0.272
18	11887029	A	G	18	11887030	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.7187621386963E-4	0.176
18	11887029	A	T	18	11887030	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.020437375280607	0.318
18	11887030	G	A	18	11887031	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.71272076165995E-5	0.064
18	11887030	G	C	18	11887031	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27004941383442E-4	0.152
18	11887030	G	T	18	11887031	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27004941383442E-4	0.156
18	11887031	C	A	18	11887032	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.28259955381971E-5	0.002
18	11887031	C	G	18	11887032	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.03442193597397E-5	0.014
18	11887031	C	T	18	11887032	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.90450353706411E-5	0.01
18	11887032	G	A	18	11887033	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.11892150070521E-5	0.0
18	11887032	G	C	18	11887033	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.15206435021413E-5	0.008
18	11887032	G	T	18	11887033	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.993123518044782	0.638
18	11887033	G	A	18	11887034	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.71251536542205E-5	0.002
18	11887033	G	C	18	11887034	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.93695920329386E-4	0.076
18	11887033	G	T	18	11887034	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.05937930512543E-4	0.084
18	11887034	A	C	18	11887035	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00322582486888609	0.25
18	11887034	A	G	18	11887035	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.28619280146098E-4	0.022
18	11887034	A	T	18	11887035	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00360367191366981	0.244
18	11887035	G	A	18	11887036	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.52846510628033E-5	0.0
18	11887035	G	C	18	11887036	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.35926405314566E-5	0.01
18	11887035	G	T	18	11887036	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.16399097222343E-5	0.018
18	11887036	G	A	18	11887037	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.50714567537486E-5	0.004
18	11887036	G	C	18	11887037	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57526088265283E-4	0.118
18	11887036	G	T	18	11887037	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00586721902517329	0.072
18	11888660	A	C	18	11888661	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0077523043853227	0.03
18	11888660	A	G	18	11888661	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00755253636654551	0.022
18	11888660	A	T	18	11888661	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00465118936014348	0.012
18	11888661	T	A	18	11888662	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00482949232444628	0.032
18	11888661	T	C	18	11888662	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0110002087081562	0.046
18	11888661	T	G	18	11888662	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00787097191962093	0.03
18	11888662	A	C	18	11888663	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.996505380123654	0.91
18	11888662	A	G	18	11888663	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.994685663573652	0.91
18	11888662	A	T	18	11888663	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998521706645019	0.816
18	11888663	C	A	18	11888664	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999968836092713	0.996
18	11888663	C	G	18	11888664	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999979670514954	0.982
18	11888663	C	T	18	11888664	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999972511134408	0.97
18	11888664	T	A	18	11888665	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999901411075447	0.966
18	11888664	T	C	18	11888665	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999874677064471	0.928
18	11888664	T	G	18	11888665	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998580026882038	0.924
18	11888665	C	A	18	11888666	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.997532413288367	0.646
18	11888665	C	G	18	11888666	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.99810618332535	0.712
18	11888665	C	T	18	11888666	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.63458382307946E-4	0.012
18	11888666	A	C	18	11888667	y	y	splicing	MPPE1(NM_001242904:exon6:c.569+2T>G;NM_023075:exon7:c.569+2T>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.569+2T>G;ENST00000317235:exon7:c.569+2T>G;ENST00000496196:exon7:c.569+2T>G;ENST00000309976:exon6:c.569+2T>G;ENST00000317251:exon8:c.278+2T>G;ENST00000344987:exon7:c.569+2T>G;ENST00000399978:exon7:c.569+2T>G;ENST00000592977:exon6:c.569+2T>G;ENST00000592331:exon6:c.347+2T>G)	.	.	0.999993519952936	0.928
18	11888666	A	G	18	11888667	y	y	splicing	MPPE1(NM_001242904:exon6:c.569+2T>C;NM_023075:exon7:c.569+2T>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.569+2T>C;ENST00000317235:exon7:c.569+2T>C;ENST00000496196:exon7:c.569+2T>C;ENST00000309976:exon6:c.569+2T>C;ENST00000317251:exon8:c.278+2T>C;ENST00000344987:exon7:c.569+2T>C;ENST00000399978:exon7:c.569+2T>C;ENST00000592977:exon6:c.569+2T>C;ENST00000592331:exon6:c.347+2T>C)	.	.	0.999958563240378	0.864
18	11888666	A	T	18	11888667	y	y	splicing	MPPE1(NM_001242904:exon6:c.569+2T>A;NM_023075:exon7:c.569+2T>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.569+2T>A;ENST00000317235:exon7:c.569+2T>A;ENST00000496196:exon7:c.569+2T>A;ENST00000309976:exon6:c.569+2T>A;ENST00000317251:exon8:c.278+2T>A;ENST00000344987:exon7:c.569+2T>A;ENST00000399978:exon7:c.569+2T>A;ENST00000592977:exon6:c.569+2T>A;ENST00000592331:exon6:c.347+2T>A)	.	.	0.999993519952936	0.928
18	11888667	C	A	18	11888668	y	y	splicing	MPPE1(NM_001242904:exon6:c.569+1G>T;NM_023075:exon7:c.569+1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.569+1G>T;ENST00000317235:exon7:c.569+1G>T;ENST00000496196:exon7:c.569+1G>T;ENST00000309976:exon6:c.569+1G>T;ENST00000317251:exon8:c.278+1G>T;ENST00000344987:exon7:c.569+1G>T;ENST00000399978:exon7:c.569+1G>T;ENST00000592977:exon6:c.569+1G>T;ENST00000592331:exon6:c.347+1G>T)	.	.	0.999988247793601	0.93
18	11888667	C	G	18	11888668	y	y	splicing	MPPE1(NM_001242904:exon6:c.569+1G>C;NM_023075:exon7:c.569+1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.569+1G>C;ENST00000317235:exon7:c.569+1G>C;ENST00000496196:exon7:c.569+1G>C;ENST00000309976:exon6:c.569+1G>C;ENST00000317251:exon8:c.278+1G>C;ENST00000344987:exon7:c.569+1G>C;ENST00000399978:exon7:c.569+1G>C;ENST00000592977:exon6:c.569+1G>C;ENST00000592331:exon6:c.347+1G>C)	.	.	0.999988247793601	0.93
18	11888667	C	T	18	11888668	y	y	splicing	MPPE1(NM_001242904:exon6:c.569+1G>A;NM_023075:exon7:c.569+1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.569+1G>A;ENST00000317235:exon7:c.569+1G>A;ENST00000496196:exon7:c.569+1G>A;ENST00000309976:exon6:c.569+1G>A;ENST00000317251:exon8:c.278+1G>A;ENST00000344987:exon7:c.569+1G>A;ENST00000399978:exon7:c.569+1G>A;ENST00000592977:exon6:c.569+1G>A;ENST00000592331:exon6:c.347+1G>A)	.	.	0.999988247793601	0.93
18	11888668	T	A	18	11888669	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A569T:p.N190I;MPPE1:NM_023075:exon6:c.A569T:p.N190I;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A569T:p.N190I;ENSG00000154889:ENST00000496196:exon6:c.A569T:p.N190I;ENSG00000154889:ENST00000317235:exon6:c.A569T:p.N190I;ENSG00000154889:ENST00000592977:exon5:c.A569T:p.N190I;ENSG00000154889:ENST00000317251:exon7:c.A278T:p.N93I;ENSG00000154889:ENST00000309976:exon5:c.A569T:p.N190I;ENSG00000154889:ENST00000588072:exon6:c.A569T:p.N190I;ENSG00000154889:ENST00000399978:exon6:c.A569T:p.N190I;ENSG00000154889:ENST00000592331:exon5:c.A347T:p.N116I;	0.614639513194439	0.594
18	11888668	T	C	18	11888669	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A569G:p.N190S;MPPE1:NM_023075:exon6:c.A569G:p.N190S;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A569G:p.N190S;ENSG00000154889:ENST00000496196:exon6:c.A569G:p.N190S;ENSG00000154889:ENST00000317235:exon6:c.A569G:p.N190S;ENSG00000154889:ENST00000592977:exon5:c.A569G:p.N190S;ENSG00000154889:ENST00000317251:exon7:c.A278G:p.N93S;ENSG00000154889:ENST00000309976:exon5:c.A569G:p.N190S;ENSG00000154889:ENST00000588072:exon6:c.A569G:p.N190S;ENSG00000154889:ENST00000399978:exon6:c.A569G:p.N190S;ENSG00000154889:ENST00000592331:exon5:c.A347G:p.N116S;	0.142526516962898	0.212
18	11888668	T	G	18	11888669	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A569C:p.N190T;MPPE1:NM_023075:exon6:c.A569C:p.N190T;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A569C:p.N190T;ENSG00000154889:ENST00000496196:exon6:c.A569C:p.N190T;ENSG00000154889:ENST00000317235:exon6:c.A569C:p.N190T;ENSG00000154889:ENST00000592977:exon5:c.A569C:p.N190T;ENSG00000154889:ENST00000317251:exon7:c.A278C:p.N93T;ENSG00000154889:ENST00000309976:exon5:c.A569C:p.N190T;ENSG00000154889:ENST00000588072:exon6:c.A569C:p.N190T;ENSG00000154889:ENST00000399978:exon6:c.A569C:p.N190T;ENSG00000154889:ENST00000592331:exon5:c.A347C:p.N116T;	0.535485406789912	0.74
18	11888669	T	A	18	11888670	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A568T:p.N190Y;MPPE1:NM_023075:exon6:c.A568T:p.N190Y;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A568T:p.N190Y;ENSG00000154889:ENST00000496196:exon6:c.A568T:p.N190Y;ENSG00000154889:ENST00000317235:exon6:c.A568T:p.N190Y;ENSG00000154889:ENST00000592977:exon5:c.A568T:p.N190Y;ENSG00000154889:ENST00000317251:exon7:c.A277T:p.N93Y;ENSG00000154889:ENST00000309976:exon5:c.A568T:p.N190Y;ENSG00000154889:ENST00000588072:exon6:c.A568T:p.N190Y;ENSG00000154889:ENST00000399978:exon6:c.A568T:p.N190Y;ENSG00000154889:ENST00000592331:exon5:c.A346T:p.N116Y;	0.999675746048941	0.942
18	11888669	T	C	18	11888670	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A568G:p.N190D;MPPE1:NM_023075:exon6:c.A568G:p.N190D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A568G:p.N190D;ENSG00000154889:ENST00000496196:exon6:c.A568G:p.N190D;ENSG00000154889:ENST00000317235:exon6:c.A568G:p.N190D;ENSG00000154889:ENST00000592977:exon5:c.A568G:p.N190D;ENSG00000154889:ENST00000317251:exon7:c.A277G:p.N93D;ENSG00000154889:ENST00000309976:exon5:c.A568G:p.N190D;ENSG00000154889:ENST00000588072:exon6:c.A568G:p.N190D;ENSG00000154889:ENST00000399978:exon6:c.A568G:p.N190D;ENSG00000154889:ENST00000592331:exon5:c.A346G:p.N116D;	0.999141245852585	0.948
18	11888669	T	G	18	11888670	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A568C:p.N190H;MPPE1:NM_023075:exon6:c.A568C:p.N190H;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A568C:p.N190H;ENSG00000154889:ENST00000496196:exon6:c.A568C:p.N190H;ENSG00000154889:ENST00000317235:exon6:c.A568C:p.N190H;ENSG00000154889:ENST00000592977:exon5:c.A568C:p.N190H;ENSG00000154889:ENST00000317251:exon7:c.A277C:p.N93H;ENSG00000154889:ENST00000309976:exon5:c.A568C:p.N190H;ENSG00000154889:ENST00000588072:exon6:c.A568C:p.N190H;ENSG00000154889:ENST00000399978:exon6:c.A568C:p.N190H;ENSG00000154889:ENST00000592331:exon5:c.A346C:p.N116H;	0.264281912634579	0.508
18	11888670	A	C	18	11888671	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.T567G:p.I189M;MPPE1:NM_023075:exon6:c.T567G:p.I189M;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.T567G:p.I189M;ENSG00000154889:ENST00000496196:exon6:c.T567G:p.I189M;ENSG00000154889:ENST00000317235:exon6:c.T567G:p.I189M;ENSG00000154889:ENST00000592977:exon5:c.T567G:p.I189M;ENSG00000154889:ENST00000317251:exon7:c.T276G:p.I92M;ENSG00000154889:ENST00000309976:exon5:c.T567G:p.I189M;ENSG00000154889:ENST00000588072:exon6:c.T567G:p.I189M;ENSG00000154889:ENST00000399978:exon6:c.T567G:p.I189M;ENSG00000154889:ENST00000592331:exon5:c.T345G:p.I115M;	1.91369237417074E-4	0.166
18	11888670	A	G	18	11888671	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon5:c.T567C:p.I189I;MPPE1:NM_023075:exon6:c.T567C:p.I189I;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.T567C:p.I189I;ENSG00000154889:ENST00000496196:exon6:c.T567C:p.I189I;ENSG00000154889:ENST00000317235:exon6:c.T567C:p.I189I;ENSG00000154889:ENST00000592977:exon5:c.T567C:p.I189I;ENSG00000154889:ENST00000317251:exon7:c.T276C:p.I92I;ENSG00000154889:ENST00000309976:exon5:c.T567C:p.I189I;ENSG00000154889:ENST00000588072:exon6:c.T567C:p.I189I;ENSG00000154889:ENST00000399978:exon6:c.T567C:p.I189I;ENSG00000154889:ENST00000592331:exon5:c.T345C:p.I115I;	4.31230161611594E-4	0.062
18	11888670	A	T	18	11888671	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon5:c.T567A:p.I189I;MPPE1:NM_023075:exon6:c.T567A:p.I189I;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.T567A:p.I189I;ENSG00000154889:ENST00000496196:exon6:c.T567A:p.I189I;ENSG00000154889:ENST00000317235:exon6:c.T567A:p.I189I;ENSG00000154889:ENST00000592977:exon5:c.T567A:p.I189I;ENSG00000154889:ENST00000317251:exon7:c.T276A:p.I92I;ENSG00000154889:ENST00000309976:exon5:c.T567A:p.I189I;ENSG00000154889:ENST00000588072:exon6:c.T567A:p.I189I;ENSG00000154889:ENST00000399978:exon6:c.T567A:p.I189I;ENSG00000154889:ENST00000592331:exon5:c.T345A:p.I115I;	2.74698282276521E-4	0.026
18	11888741	T	A	18	11888742	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A496T:p.M166L;MPPE1:NM_023075:exon6:c.A496T:p.M166L;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A496T:p.M166L;ENSG00000154889:ENST00000496196:exon6:c.A496T:p.M166L;ENSG00000154889:ENST00000317235:exon6:c.A496T:p.M166L;ENSG00000154889:ENST00000592977:exon5:c.A496T:p.M166L;ENSG00000154889:ENST00000317251:exon7:c.A205T:p.M69L;ENSG00000154889:ENST00000309976:exon5:c.A496T:p.M166L;ENSG00000154889:ENST00000588072:exon6:c.A496T:p.M166L;ENSG00000154889:ENST00000399978:exon6:c.A496T:p.M166L;ENSG00000154889:ENST00000588186:exon7:c.A496T:p.M166L;ENSG00000154889:ENST00000592331:exon5:c.A274T:p.M92L;	0.0024774274385349	0.072
18	11888741	T	C	18	11888742	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A496G:p.M166V;MPPE1:NM_023075:exon6:c.A496G:p.M166V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A496G:p.M166V;ENSG00000154889:ENST00000496196:exon6:c.A496G:p.M166V;ENSG00000154889:ENST00000317235:exon6:c.A496G:p.M166V;ENSG00000154889:ENST00000592977:exon5:c.A496G:p.M166V;ENSG00000154889:ENST00000317251:exon7:c.A205G:p.M69V;ENSG00000154889:ENST00000309976:exon5:c.A496G:p.M166V;ENSG00000154889:ENST00000588072:exon6:c.A496G:p.M166V;ENSG00000154889:ENST00000399978:exon6:c.A496G:p.M166V;ENSG00000154889:ENST00000588186:exon7:c.A496G:p.M166V;ENSG00000154889:ENST00000592331:exon5:c.A274G:p.M92V;	0.00299591855862265	0.102
18	11888741	T	G	18	11888742	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.A496C:p.M166L;MPPE1:NM_023075:exon6:c.A496C:p.M166L;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.A496C:p.M166L;ENSG00000154889:ENST00000496196:exon6:c.A496C:p.M166L;ENSG00000154889:ENST00000317235:exon6:c.A496C:p.M166L;ENSG00000154889:ENST00000592977:exon5:c.A496C:p.M166L;ENSG00000154889:ENST00000317251:exon7:c.A205C:p.M69L;ENSG00000154889:ENST00000309976:exon5:c.A496C:p.M166L;ENSG00000154889:ENST00000588072:exon6:c.A496C:p.M166L;ENSG00000154889:ENST00000399978:exon6:c.A496C:p.M166L;ENSG00000154889:ENST00000588186:exon7:c.A496C:p.M166L;ENSG00000154889:ENST00000592331:exon5:c.A274C:p.M92L;	0.00955810613873012	0.116
18	11888742	C	A	18	11888743	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.G495T:p.E165D;MPPE1:NM_023075:exon6:c.G495T:p.E165D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.G495T:p.E165D;ENSG00000154889:ENST00000496196:exon6:c.G495T:p.E165D;ENSG00000154889:ENST00000317235:exon6:c.G495T:p.E165D;ENSG00000154889:ENST00000592977:exon5:c.G495T:p.E165D;ENSG00000154889:ENST00000317251:exon7:c.G204T:p.E68D;ENSG00000154889:ENST00000309976:exon5:c.G495T:p.E165D;ENSG00000154889:ENST00000588072:exon6:c.G495T:p.E165D;ENSG00000154889:ENST00000399978:exon6:c.G495T:p.E165D;ENSG00000154889:ENST00000588186:exon7:c.G495T:p.E165D;ENSG00000154889:ENST00000592331:exon5:c.G273T:p.E91D;	0.994511606511658	0.68
18	11888742	C	G	18	11888743	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon5:c.G495C:p.E165D;MPPE1:NM_023075:exon6:c.G495C:p.E165D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.G495C:p.E165D;ENSG00000154889:ENST00000496196:exon6:c.G495C:p.E165D;ENSG00000154889:ENST00000317235:exon6:c.G495C:p.E165D;ENSG00000154889:ENST00000592977:exon5:c.G495C:p.E165D;ENSG00000154889:ENST00000317251:exon7:c.G204C:p.E68D;ENSG00000154889:ENST00000309976:exon5:c.G495C:p.E165D;ENSG00000154889:ENST00000588072:exon6:c.G495C:p.E165D;ENSG00000154889:ENST00000399978:exon6:c.G495C:p.E165D;ENSG00000154889:ENST00000588186:exon7:c.G495C:p.E165D;ENSG00000154889:ENST00000592331:exon5:c.G273C:p.E91D;	0.939213695459455	0.594
18	11888742	C	T	18	11888743	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon5:c.G495A:p.E165E;MPPE1:NM_023075:exon6:c.G495A:p.E165E;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon6:c.G495A:p.E165E;ENSG00000154889:ENST00000496196:exon6:c.G495A:p.E165E;ENSG00000154889:ENST00000317235:exon6:c.G495A:p.E165E;ENSG00000154889:ENST00000592977:exon5:c.G495A:p.E165E;ENSG00000154889:ENST00000317251:exon7:c.G204A:p.E68E;ENSG00000154889:ENST00000309976:exon5:c.G495A:p.E165E;ENSG00000154889:ENST00000588072:exon6:c.G495A:p.E165E;ENSG00000154889:ENST00000399978:exon6:c.G495A:p.E165E;ENSG00000154889:ENST00000588186:exon7:c.G495A:p.E165E;ENSG00000154889:ENST00000592331:exon5:c.G273A:p.E91E;	0.864598213141563	0.484
18	11888743	C	A	18	11888744	y	y	splicing	MPPE1(NM_001242904:exon6:c.495-1G>T;NM_023075:exon7:c.495-1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.495-1G>T;ENST00000317235:exon7:c.495-1G>T;ENST00000496196:exon7:c.495-1G>T;ENST00000309976:exon6:c.495-1G>T;ENST00000317251:exon8:c.204-1G>T;ENST00000344987:exon7:c.495-1G>T;ENST00000399978:exon7:c.495-1G>T;ENST00000592977:exon6:c.495-1G>T;ENST00000592331:exon6:c.273-1G>T;ENST00000588186:exon8:c.495-1G>T)	.	.	0.999838148113448	0.85
18	11888743	C	G	18	11888744	y	y	splicing	MPPE1(NM_001242904:exon6:c.495-1G>C;NM_023075:exon7:c.495-1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.495-1G>C;ENST00000317235:exon7:c.495-1G>C;ENST00000496196:exon7:c.495-1G>C;ENST00000309976:exon6:c.495-1G>C;ENST00000317251:exon8:c.204-1G>C;ENST00000344987:exon7:c.495-1G>C;ENST00000399978:exon7:c.495-1G>C;ENST00000592977:exon6:c.495-1G>C;ENST00000592331:exon6:c.273-1G>C;ENST00000588186:exon8:c.495-1G>C)	.	.	0.999838148113448	0.846
18	11888743	C	T	18	11888744	y	y	splicing	MPPE1(NM_001242904:exon6:c.495-1G>A;NM_023075:exon7:c.495-1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.495-1G>A;ENST00000317235:exon7:c.495-1G>A;ENST00000496196:exon7:c.495-1G>A;ENST00000309976:exon6:c.495-1G>A;ENST00000317251:exon8:c.204-1G>A;ENST00000344987:exon7:c.495-1G>A;ENST00000399978:exon7:c.495-1G>A;ENST00000592977:exon6:c.495-1G>A;ENST00000592331:exon6:c.273-1G>A;ENST00000588186:exon8:c.495-1G>A)	.	.	0.999911630752671	0.874
18	11888744	T	A	18	11888745	y	y	splicing	MPPE1(NM_001242904:exon6:c.495-2A>T;NM_023075:exon7:c.495-2A>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.495-2A>T;ENST00000317235:exon7:c.495-2A>T;ENST00000496196:exon7:c.495-2A>T;ENST00000309976:exon6:c.495-2A>T;ENST00000317251:exon8:c.204-2A>T;ENST00000344987:exon7:c.495-2A>T;ENST00000399978:exon7:c.495-2A>T;ENST00000592977:exon6:c.495-2A>T;ENST00000592331:exon6:c.273-2A>T;ENST00000588186:exon8:c.495-2A>T)	.	.	0.999895970021338	0.858
18	11888744	T	C	18	11888745	y	y	splicing	MPPE1(NM_001242904:exon6:c.495-2A>G;NM_023075:exon7:c.495-2A>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.495-2A>G;ENST00000317235:exon7:c.495-2A>G;ENST00000496196:exon7:c.495-2A>G;ENST00000309976:exon6:c.495-2A>G;ENST00000317251:exon8:c.204-2A>G;ENST00000344987:exon7:c.495-2A>G;ENST00000399978:exon7:c.495-2A>G;ENST00000592977:exon6:c.495-2A>G;ENST00000592331:exon6:c.273-2A>G;ENST00000588186:exon8:c.495-2A>G)	.	.	0.999897516425667	0.844
18	11888744	T	G	18	11888745	y	y	splicing	MPPE1(NM_001242904:exon6:c.495-2A>C;NM_023075:exon7:c.495-2A>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon7:c.495-2A>C;ENST00000317235:exon7:c.495-2A>C;ENST00000496196:exon7:c.495-2A>C;ENST00000309976:exon6:c.495-2A>C;ENST00000317251:exon8:c.204-2A>C;ENST00000344987:exon7:c.495-2A>C;ENST00000399978:exon7:c.495-2A>C;ENST00000592977:exon6:c.495-2A>C;ENST00000592331:exon6:c.273-2A>C;ENST00000588186:exon8:c.495-2A>C)	.	.	0.999897516425667	0.844
18	11888745	A	C	18	11888746	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.617639570638868	0.506
18	11888745	A	G	18	11888746	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.0045997437828E-4	0.05
18	11888745	A	T	18	11888746	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.146886168057663	0.344
18	11888746	T	A	18	11888747	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.83699263111694E-5	0.07
18	11888746	T	C	18	11888747	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.13421394476342E-5	0.018
18	11888746	T	G	18	11888747	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.45597964193177E-5	0.014
18	11888747	A	C	18	11888748	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999157109323991	0.96
18	11888747	A	G	18	11888748	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.05739786360726E-4	0.12
18	11888747	A	T	18	11888748	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.36359606722614	0.572
18	11888748	T	A	18	11888749	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00133051899001302	0.022
18	11888748	T	C	18	11888749	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998740493552434	0.976
18	11888748	T	G	18	11888749	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0012080345521533	0.112
18	11888749	T	A	18	11888750	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.57014092847958E-4	0.062
18	11888749	T	C	18	11888750	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.66203148216859E-4	0.028
18	11888749	T	G	18	11888750	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.39417638966474E-4	0.006
18	11888750	C	A	18	11888751	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.46233410602402E-4	0.054
18	11888750	C	G	18	11888751	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.46233410602402E-4	0.04
18	11888750	C	T	18	11888751	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.00969863693083E-4	0.056
18	11888751	A	C	18	11888752	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.79335987071349	0.662
18	11888751	A	G	18	11888752	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00146917547939333	0.106
18	11888751	A	T	18	11888752	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999626101105782	0.948
18	11888752	A	C	18	11888753	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.926950429407552	0.778
18	11888752	A	G	18	11888753	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.23344180299519E-4	0.046
18	11888752	A	T	18	11888753	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0158590693227969	0.316
18	11888753	T	A	18	11888754	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.6495111537456E-5	0.026
18	11888753	T	C	18	11888754	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.891526768603415	0.816
18	11888753	T	G	18	11888754	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.18342776473872E-5	0.0
18	11888754	T	A	18	11888755	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.59701169011854E-5	0.058
18	11888754	T	C	18	11888755	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.74662366924591E-4	0.04
18	11888754	T	G	18	11888755	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.29250713355233E-5	0.008
18	11889378	C	A	18	11889379	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.04407226289958E-5	0.0
18	11889378	C	G	18	11889379	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.90519961471886E-5	0.0
18	11889378	C	T	18	11889379	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.38998041968487E-5	0.0
18	11889379	T	A	18	11889380	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.39441306172539E-4	0.018
18	11889379	T	C	18	11889380	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.52960061164823E-4	0.028
18	11889379	T	G	18	11889380	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.52960061164823E-4	0.022
18	11889380	A	C	18	11889381	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998153686689418	0.906
18	11889380	A	G	18	11889381	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.994133687752851	0.844
18	11889380	A	T	18	11889381	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998405984460047	0.822
18	11889381	C	A	18	11889382	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.99996655793034	0.976
18	11889381	C	G	18	11889382	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999976008337081	0.984
18	11889381	C	T	18	11889382	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999987040453402	0.994
18	11889382	T	A	18	11889383	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999841909441509	0.908
18	11889382	T	C	18	11889383	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999601904001279	0.974
18	11889382	T	G	18	11889383	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999576547635568	0.864
18	11889383	T	A	18	11889384	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999868792241425	0.942
18	11889383	T	C	18	11889384	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.204266973088118	0.526
18	11889383	T	G	18	11889384	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999839681606681	0.92
18	11889384	A	C	18	11889385	y	y	splicing	MPPE1(NM_001242904:exon5:c.494+2T>G;NM_023075:exon6:c.494+2T>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.494+2T>G;ENST00000317235:exon6:c.494+2T>G;ENST00000496196:exon6:c.494+2T>G;ENST00000309976:exon5:c.494+2T>G;ENST00000317251:exon7:c.203+2T>G;ENST00000344987:exon6:c.494+2T>G;ENST00000587724:exon2:c.29+2T>G;ENST00000399978:exon6:c.494+2T>G;ENST00000592977:exon5:c.494+2T>G;ENST00000592331:exon5:c.272+2T>G;ENST00000588186:exon7:c.494+2T>G)	.	.	0.999988247793601	0.93
18	11889384	A	G	18	11889385	y	y	splicing	MPPE1(NM_001242904:exon5:c.494+2T>C;NM_023075:exon6:c.494+2T>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.494+2T>C;ENST00000317235:exon6:c.494+2T>C;ENST00000496196:exon6:c.494+2T>C;ENST00000309976:exon5:c.494+2T>C;ENST00000317251:exon7:c.203+2T>C;ENST00000344987:exon6:c.494+2T>C;ENST00000587724:exon2:c.29+2T>C;ENST00000399978:exon6:c.494+2T>C;ENST00000592977:exon5:c.494+2T>C;ENST00000592331:exon5:c.272+2T>C;ENST00000588186:exon7:c.494+2T>C)	.	.	0.99894731591173	0.846
18	11889384	A	T	18	11889385	y	y	splicing	MPPE1(NM_001242904:exon5:c.494+2T>A;NM_023075:exon6:c.494+2T>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.494+2T>A;ENST00000317235:exon6:c.494+2T>A;ENST00000496196:exon6:c.494+2T>A;ENST00000309976:exon5:c.494+2T>A;ENST00000317251:exon7:c.203+2T>A;ENST00000344987:exon6:c.494+2T>A;ENST00000587724:exon2:c.29+2T>A;ENST00000399978:exon6:c.494+2T>A;ENST00000592977:exon5:c.494+2T>A;ENST00000592331:exon5:c.272+2T>A;ENST00000588186:exon7:c.494+2T>A)	.	.	0.999988247793601	0.93
18	11889385	C	A	18	11889386	y	y	splicing	MPPE1(NM_001242904:exon5:c.494+1G>T;NM_023075:exon6:c.494+1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.494+1G>T;ENST00000317235:exon6:c.494+1G>T;ENST00000496196:exon6:c.494+1G>T;ENST00000309976:exon5:c.494+1G>T;ENST00000317251:exon7:c.203+1G>T;ENST00000344987:exon6:c.494+1G>T;ENST00000587724:exon2:c.29+1G>T;ENST00000399978:exon6:c.494+1G>T;ENST00000592977:exon5:c.494+1G>T;ENST00000592331:exon5:c.272+1G>T;ENST00000588186:exon7:c.494+1G>T)	.	.	0.999990361384395	0.938
18	11889385	C	G	18	11889386	y	y	splicing	MPPE1(NM_001242904:exon5:c.494+1G>C;NM_023075:exon6:c.494+1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.494+1G>C;ENST00000317235:exon6:c.494+1G>C;ENST00000496196:exon6:c.494+1G>C;ENST00000309976:exon5:c.494+1G>C;ENST00000317251:exon7:c.203+1G>C;ENST00000344987:exon6:c.494+1G>C;ENST00000587724:exon2:c.29+1G>C;ENST00000399978:exon6:c.494+1G>C;ENST00000592977:exon5:c.494+1G>C;ENST00000592331:exon5:c.272+1G>C;ENST00000588186:exon7:c.494+1G>C)	.	.	0.999990361384395	0.938
18	11889385	C	T	18	11889386	y	y	splicing	MPPE1(NM_001242904:exon5:c.494+1G>A;NM_023075:exon6:c.494+1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.494+1G>A;ENST00000317235:exon6:c.494+1G>A;ENST00000496196:exon6:c.494+1G>A;ENST00000309976:exon5:c.494+1G>A;ENST00000317251:exon7:c.203+1G>A;ENST00000344987:exon6:c.494+1G>A;ENST00000587724:exon2:c.29+1G>A;ENST00000399978:exon6:c.494+1G>A;ENST00000592977:exon5:c.494+1G>A;ENST00000592331:exon5:c.272+1G>A;ENST00000588186:exon7:c.494+1G>A)	.	.	0.999990361384395	0.938
18	11889386	T	A	18	11889387	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.A494T:p.E165V;MPPE1:NM_023075:exon5:c.A494T:p.E165V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.A494T:p.E165V;ENSG00000154889:ENST00000496196:exon5:c.A494T:p.E165V;ENSG00000154889:ENST00000317235:exon5:c.A494T:p.E165V;ENSG00000154889:ENST00000592977:exon4:c.A494T:p.E165V;ENSG00000154889:ENST00000317251:exon6:c.A203T:p.E68V;ENSG00000154889:ENST00000309976:exon4:c.A494T:p.E165V;ENSG00000154889:ENST00000588072:exon5:c.A494T:p.E165V;ENSG00000154889:ENST00000399978:exon5:c.A494T:p.E165V;ENSG00000154889:ENST00000588186:exon6:c.A494T:p.E165V;ENSG00000154889:ENST00000587724:exon1:c.A29T:p.D10V;ENSG00000154889:ENST00000592331:exon4:c.A272T:p.E91V;	0.00166591733857139	0.066
18	11889386	T	C	18	11889387	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.A494G:p.E165G;MPPE1:NM_023075:exon5:c.A494G:p.E165G;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.A494G:p.E165G;ENSG00000154889:ENST00000496196:exon5:c.A494G:p.E165G;ENSG00000154889:ENST00000317235:exon5:c.A494G:p.E165G;ENSG00000154889:ENST00000592977:exon4:c.A494G:p.E165G;ENSG00000154889:ENST00000317251:exon6:c.A203G:p.E68G;ENSG00000154889:ENST00000309976:exon4:c.A494G:p.E165G;ENSG00000154889:ENST00000588072:exon5:c.A494G:p.E165G;ENSG00000154889:ENST00000399978:exon5:c.A494G:p.E165G;ENSG00000154889:ENST00000588186:exon6:c.A494G:p.E165G;ENSG00000154889:ENST00000587724:exon1:c.A29G:p.D10G;ENSG00000154889:ENST00000592331:exon4:c.A272G:p.E91G;	2.48933853804499E-5	0.018
18	11889386	T	G	18	11889387	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.A494C:p.E165A;MPPE1:NM_023075:exon5:c.A494C:p.E165A;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.A494C:p.E165A;ENSG00000154889:ENST00000496196:exon5:c.A494C:p.E165A;ENSG00000154889:ENST00000317235:exon5:c.A494C:p.E165A;ENSG00000154889:ENST00000592977:exon4:c.A494C:p.E165A;ENSG00000154889:ENST00000317251:exon6:c.A203C:p.E68A;ENSG00000154889:ENST00000309976:exon4:c.A494C:p.E165A;ENSG00000154889:ENST00000588072:exon5:c.A494C:p.E165A;ENSG00000154889:ENST00000399978:exon5:c.A494C:p.E165A;ENSG00000154889:ENST00000588186:exon6:c.A494C:p.E165A;ENSG00000154889:ENST00000587724:exon1:c.A29C:p.D10A;ENSG00000154889:ENST00000592331:exon4:c.A272C:p.E91A;	3.89861214112078E-5	0.014
18	11889387	C	A	18	11889388	y	y	exonic	MPPE1	stopgain SNV	MPPE1:NM_001242904:exon4:c.G493T:p.E165X;MPPE1:NM_023075:exon5:c.G493T:p.E165X;	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000344987:exon5:c.G493T:p.E165X;ENSG00000154889:ENST00000496196:exon5:c.G493T:p.E165X;ENSG00000154889:ENST00000317235:exon5:c.G493T:p.E165X;ENSG00000154889:ENST00000592977:exon4:c.G493T:p.E165X;ENSG00000154889:ENST00000317251:exon6:c.G202T:p.E68X;ENSG00000154889:ENST00000309976:exon4:c.G493T:p.E165X;ENSG00000154889:ENST00000588072:exon5:c.G493T:p.E165X;ENSG00000154889:ENST00000399978:exon5:c.G493T:p.E165X;ENSG00000154889:ENST00000588186:exon6:c.G493T:p.E165X;ENSG00000154889:ENST00000592331:exon4:c.G271T:p.E91X;	2.53090772430553E-4	0.352
18	11889387	C	G	18	11889388	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.G493C:p.E165Q;MPPE1:NM_023075:exon5:c.G493C:p.E165Q;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.G493C:p.E165Q;ENSG00000154889:ENST00000496196:exon5:c.G493C:p.E165Q;ENSG00000154889:ENST00000317235:exon5:c.G493C:p.E165Q;ENSG00000154889:ENST00000592977:exon4:c.G493C:p.E165Q;ENSG00000154889:ENST00000317251:exon6:c.G202C:p.E68Q;ENSG00000154889:ENST00000309976:exon4:c.G493C:p.E165Q;ENSG00000154889:ENST00000588072:exon5:c.G493C:p.E165Q;ENSG00000154889:ENST00000399978:exon5:c.G493C:p.E165Q;ENSG00000154889:ENST00000588186:exon6:c.G493C:p.E165Q;ENSG00000154889:ENST00000587724:exon1:c.G28C:p.D10H;ENSG00000154889:ENST00000592331:exon4:c.G271C:p.E91Q;	1.31296503311895E-4	0.018
18	11889387	C	T	18	11889388	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.G493A:p.E165K;MPPE1:NM_023075:exon5:c.G493A:p.E165K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.G493A:p.E165K;ENSG00000154889:ENST00000496196:exon5:c.G493A:p.E165K;ENSG00000154889:ENST00000317235:exon5:c.G493A:p.E165K;ENSG00000154889:ENST00000592977:exon4:c.G493A:p.E165K;ENSG00000154889:ENST00000317251:exon6:c.G202A:p.E68K;ENSG00000154889:ENST00000309976:exon4:c.G493A:p.E165K;ENSG00000154889:ENST00000588072:exon5:c.G493A:p.E165K;ENSG00000154889:ENST00000399978:exon5:c.G493A:p.E165K;ENSG00000154889:ENST00000588186:exon6:c.G493A:p.E165K;ENSG00000154889:ENST00000587724:exon1:c.G28A:p.D10N;ENSG00000154889:ENST00000592331:exon4:c.G271A:p.E91K;	1.40660515082398E-4	0.068
18	11889388	A	C	18	11889389	y	y	exonic	MPPE1	stopgain SNV	MPPE1:NM_001242904:exon4:c.T492G:p.Y164X;MPPE1:NM_023075:exon5:c.T492G:p.Y164X;	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000344987:exon5:c.T492G:p.Y164X;ENSG00000154889:ENST00000496196:exon5:c.T492G:p.Y164X;ENSG00000154889:ENST00000317235:exon5:c.T492G:p.Y164X;ENSG00000154889:ENST00000588191:exon7:c.T492G:p.Y164X;ENSG00000154889:ENST00000592977:exon4:c.T492G:p.Y164X;ENSG00000154889:ENST00000317251:exon6:c.T201G:p.Y67X;ENSG00000154889:ENST00000309976:exon4:c.T492G:p.Y164X;ENSG00000154889:ENST00000588072:exon5:c.T492G:p.Y164X;ENSG00000154889:ENST00000399978:exon5:c.T492G:p.Y164X;ENSG00000154889:ENST00000588186:exon6:c.T492G:p.Y164X;ENSG00000154889:ENST00000587724:exon1:c.T27G:p.Y9X;ENSG00000154889:ENST00000592331:exon4:c.T270G:p.Y90X;	4.06028143709006E-4	0.328
18	11889388	A	G	18	11889389	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon4:c.T492C:p.Y164Y;MPPE1:NM_023075:exon5:c.T492C:p.Y164Y;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.T492C:p.Y164Y;ENSG00000154889:ENST00000496196:exon5:c.T492C:p.Y164Y;ENSG00000154889:ENST00000317235:exon5:c.T492C:p.Y164Y;ENSG00000154889:ENST00000588191:exon7:c.T492C:p.Y164Y;ENSG00000154889:ENST00000592977:exon4:c.T492C:p.Y164Y;ENSG00000154889:ENST00000317251:exon6:c.T201C:p.Y67Y;ENSG00000154889:ENST00000309976:exon4:c.T492C:p.Y164Y;ENSG00000154889:ENST00000588072:exon5:c.T492C:p.Y164Y;ENSG00000154889:ENST00000399978:exon5:c.T492C:p.Y164Y;ENSG00000154889:ENST00000588186:exon6:c.T492C:p.Y164Y;ENSG00000154889:ENST00000587724:exon1:c.T27C:p.Y9Y;ENSG00000154889:ENST00000592331:exon4:c.T270C:p.Y90Y;	4.87022296656345E-5	0.0
18	11889388	A	T	18	11889389	y	y	exonic	MPPE1	stopgain SNV	MPPE1:NM_001242904:exon4:c.T492A:p.Y164X;MPPE1:NM_023075:exon5:c.T492A:p.Y164X;	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000344987:exon5:c.T492A:p.Y164X;ENSG00000154889:ENST00000496196:exon5:c.T492A:p.Y164X;ENSG00000154889:ENST00000317235:exon5:c.T492A:p.Y164X;ENSG00000154889:ENST00000588191:exon7:c.T492A:p.Y164X;ENSG00000154889:ENST00000592977:exon4:c.T492A:p.Y164X;ENSG00000154889:ENST00000317251:exon6:c.T201A:p.Y67X;ENSG00000154889:ENST00000309976:exon4:c.T492A:p.Y164X;ENSG00000154889:ENST00000588072:exon5:c.T492A:p.Y164X;ENSG00000154889:ENST00000399978:exon5:c.T492A:p.Y164X;ENSG00000154889:ENST00000588186:exon6:c.T492A:p.Y164X;ENSG00000154889:ENST00000587724:exon1:c.T27A:p.Y9X;ENSG00000154889:ENST00000592331:exon4:c.T270A:p.Y90X;	2.27771667812675E-4	0.352
18	11889488	G	A	18	11889489	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.C392T:p.A131V;MPPE1:NM_023075:exon5:c.C392T:p.A131V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.C392T:p.A131V;ENSG00000154889:ENST00000496196:exon5:c.C392T:p.A131V;ENSG00000154889:ENST00000317235:exon5:c.C392T:p.A131V;ENSG00000154889:ENST00000588191:exon7:c.C392T:p.A131V;ENSG00000154889:ENST00000592977:exon4:c.C392T:p.A131V;ENSG00000154889:ENST00000589267:exon6:c.C392T:p.A131V;ENSG00000154889:ENST00000317251:exon6:c.C101T:p.A34V;ENSG00000154889:ENST00000309976:exon4:c.C392T:p.A131V;ENSG00000154889:ENST00000588072:exon5:c.C392T:p.A131V;ENSG00000154889:ENST00000399978:exon5:c.C392T:p.A131V;ENSG00000154889:ENST00000588186:exon6:c.C392T:p.A131V;ENSG00000154889:ENST00000592331:exon4:c.C170T:p.A57V;	0.378297272372766	0.506
18	11889488	G	C	18	11889489	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.C392G:p.A131G;MPPE1:NM_023075:exon5:c.C392G:p.A131G;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.C392G:p.A131G;ENSG00000154889:ENST00000496196:exon5:c.C392G:p.A131G;ENSG00000154889:ENST00000317235:exon5:c.C392G:p.A131G;ENSG00000154889:ENST00000588191:exon7:c.C392G:p.A131G;ENSG00000154889:ENST00000592977:exon4:c.C392G:p.A131G;ENSG00000154889:ENST00000589267:exon6:c.C392G:p.A131G;ENSG00000154889:ENST00000317251:exon6:c.C101G:p.A34G;ENSG00000154889:ENST00000309976:exon4:c.C392G:p.A131G;ENSG00000154889:ENST00000588072:exon5:c.C392G:p.A131G;ENSG00000154889:ENST00000399978:exon5:c.C392G:p.A131G;ENSG00000154889:ENST00000588186:exon6:c.C392G:p.A131G;ENSG00000154889:ENST00000592331:exon4:c.C170G:p.A57G;	0.00439385248804461	0.06
18	11889488	G	T	18	11889489	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.C392A:p.A131D;MPPE1:NM_023075:exon5:c.C392A:p.A131D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.C392A:p.A131D;ENSG00000154889:ENST00000496196:exon5:c.C392A:p.A131D;ENSG00000154889:ENST00000317235:exon5:c.C392A:p.A131D;ENSG00000154889:ENST00000588191:exon7:c.C392A:p.A131D;ENSG00000154889:ENST00000592977:exon4:c.C392A:p.A131D;ENSG00000154889:ENST00000589267:exon6:c.C392A:p.A131D;ENSG00000154889:ENST00000317251:exon6:c.C101A:p.A34D;ENSG00000154889:ENST00000309976:exon4:c.C392A:p.A131D;ENSG00000154889:ENST00000588072:exon5:c.C392A:p.A131D;ENSG00000154889:ENST00000399978:exon5:c.C392A:p.A131D;ENSG00000154889:ENST00000588186:exon6:c.C392A:p.A131D;ENSG00000154889:ENST00000592331:exon4:c.C170A:p.A57D;	0.00161864645900532	0.018
18	11889489	C	A	18	11889490	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.G391T:p.A131S;MPPE1:NM_023075:exon5:c.G391T:p.A131S;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.G391T:p.A131S;ENSG00000154889:ENST00000496196:exon5:c.G391T:p.A131S;ENSG00000154889:ENST00000317235:exon5:c.G391T:p.A131S;ENSG00000154889:ENST00000588191:exon7:c.G391T:p.A131S;ENSG00000154889:ENST00000592977:exon4:c.G391T:p.A131S;ENSG00000154889:ENST00000589267:exon6:c.G391T:p.A131S;ENSG00000154889:ENST00000317251:exon6:c.G100T:p.A34S;ENSG00000154889:ENST00000309976:exon4:c.G391T:p.A131S;ENSG00000154889:ENST00000588072:exon5:c.G391T:p.A131S;ENSG00000154889:ENST00000399978:exon5:c.G391T:p.A131S;ENSG00000154889:ENST00000588186:exon6:c.G391T:p.A131S;ENSG00000154889:ENST00000592331:exon4:c.G169T:p.A57S;	0.942744803535821	0.648
18	11889489	C	G	18	11889490	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.G391C:p.A131P;MPPE1:NM_023075:exon5:c.G391C:p.A131P;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.G391C:p.A131P;ENSG00000154889:ENST00000496196:exon5:c.G391C:p.A131P;ENSG00000154889:ENST00000317235:exon5:c.G391C:p.A131P;ENSG00000154889:ENST00000588191:exon7:c.G391C:p.A131P;ENSG00000154889:ENST00000592977:exon4:c.G391C:p.A131P;ENSG00000154889:ENST00000589267:exon6:c.G391C:p.A131P;ENSG00000154889:ENST00000317251:exon6:c.G100C:p.A34P;ENSG00000154889:ENST00000309976:exon4:c.G391C:p.A131P;ENSG00000154889:ENST00000588072:exon5:c.G391C:p.A131P;ENSG00000154889:ENST00000399978:exon5:c.G391C:p.A131P;ENSG00000154889:ENST00000588186:exon6:c.G391C:p.A131P;ENSG00000154889:ENST00000592331:exon4:c.G169C:p.A57P;	0.99950260642886	0.876
18	11889489	C	T	18	11889490	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon4:c.G391A:p.A131T;MPPE1:NM_023075:exon5:c.G391A:p.A131T;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon5:c.G391A:p.A131T;ENSG00000154889:ENST00000496196:exon5:c.G391A:p.A131T;ENSG00000154889:ENST00000317235:exon5:c.G391A:p.A131T;ENSG00000154889:ENST00000588191:exon7:c.G391A:p.A131T;ENSG00000154889:ENST00000592977:exon4:c.G391A:p.A131T;ENSG00000154889:ENST00000589267:exon6:c.G391A:p.A131T;ENSG00000154889:ENST00000317251:exon6:c.G100A:p.A34T;ENSG00000154889:ENST00000309976:exon4:c.G391A:p.A131T;ENSG00000154889:ENST00000588072:exon5:c.G391A:p.A131T;ENSG00000154889:ENST00000399978:exon5:c.G391A:p.A131T;ENSG00000154889:ENST00000588186:exon6:c.G391A:p.A131T;ENSG00000154889:ENST00000592331:exon4:c.G169A:p.A57T;	0.998496368459243	0.67
18	11889490	C	A	18	11889491	y	y	splicing	MPPE1(NM_001242904:exon5:c.391-1G>T;NM_023075:exon6:c.391-1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.391-1G>T;ENST00000317235:exon6:c.391-1G>T;ENST00000496196:exon6:c.391-1G>T;ENST00000309976:exon5:c.391-1G>T;ENST00000317251:exon7:c.100-1G>T;ENST00000344987:exon6:c.391-1G>T;ENST00000399978:exon6:c.391-1G>T;ENST00000592977:exon5:c.391-1G>T;ENST00000592331:exon5:c.169-1G>T;ENST00000588186:exon7:c.391-1G>T;ENST00000588191:exon8:c.391-1G>T;ENST00000589267:exon7:c.391-1G>T)	.	.	0.999887235375643	0.872
18	11889490	C	G	18	11889491	y	y	splicing	MPPE1(NM_001242904:exon5:c.391-1G>C;NM_023075:exon6:c.391-1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.391-1G>C;ENST00000317235:exon6:c.391-1G>C;ENST00000496196:exon6:c.391-1G>C;ENST00000309976:exon5:c.391-1G>C;ENST00000317251:exon7:c.100-1G>C;ENST00000344987:exon6:c.391-1G>C;ENST00000399978:exon6:c.391-1G>C;ENST00000592977:exon5:c.391-1G>C;ENST00000592331:exon5:c.169-1G>C;ENST00000588186:exon7:c.391-1G>C;ENST00000588191:exon8:c.391-1G>C;ENST00000589267:exon7:c.391-1G>C)	.	.	0.999876139091083	0.868
18	11889490	C	T	18	11889491	y	y	splicing	MPPE1(NM_001242904:exon5:c.391-1G>A;NM_023075:exon6:c.391-1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.391-1G>A;ENST00000317235:exon6:c.391-1G>A;ENST00000496196:exon6:c.391-1G>A;ENST00000309976:exon5:c.391-1G>A;ENST00000317251:exon7:c.100-1G>A;ENST00000344987:exon6:c.391-1G>A;ENST00000399978:exon6:c.391-1G>A;ENST00000592977:exon5:c.391-1G>A;ENST00000592331:exon5:c.169-1G>A;ENST00000588186:exon7:c.391-1G>A;ENST00000588191:exon8:c.391-1G>A;ENST00000589267:exon7:c.391-1G>A)	.	.	0.999891035914584	0.886
18	11889491	T	A	18	11889492	y	y	splicing	MPPE1(NM_001242904:exon5:c.391-2A>T;NM_023075:exon6:c.391-2A>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.391-2A>T;ENST00000317235:exon6:c.391-2A>T;ENST00000496196:exon6:c.391-2A>T;ENST00000309976:exon5:c.391-2A>T;ENST00000317251:exon7:c.100-2A>T;ENST00000344987:exon6:c.391-2A>T;ENST00000399978:exon6:c.391-2A>T;ENST00000592977:exon5:c.391-2A>T;ENST00000592331:exon5:c.169-2A>T;ENST00000588186:exon7:c.391-2A>T;ENST00000588191:exon8:c.391-2A>T;ENST00000589267:exon7:c.391-2A>T)	.	.	0.99994568797423	0.942
18	11889491	T	C	18	11889492	y	y	splicing	MPPE1(NM_001242904:exon5:c.391-2A>G;NM_023075:exon6:c.391-2A>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.391-2A>G;ENST00000317235:exon6:c.391-2A>G;ENST00000496196:exon6:c.391-2A>G;ENST00000309976:exon5:c.391-2A>G;ENST00000317251:exon7:c.100-2A>G;ENST00000344987:exon6:c.391-2A>G;ENST00000399978:exon6:c.391-2A>G;ENST00000592977:exon5:c.391-2A>G;ENST00000592331:exon5:c.169-2A>G;ENST00000588186:exon7:c.391-2A>G;ENST00000588191:exon8:c.391-2A>G;ENST00000589267:exon7:c.391-2A>G)	.	.	0.99994568797423	0.946
18	11889491	T	G	18	11889492	y	y	splicing	MPPE1(NM_001242904:exon5:c.391-2A>C;NM_023075:exon6:c.391-2A>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon6:c.391-2A>C;ENST00000317235:exon6:c.391-2A>C;ENST00000496196:exon6:c.391-2A>C;ENST00000309976:exon5:c.391-2A>C;ENST00000317251:exon7:c.100-2A>C;ENST00000344987:exon6:c.391-2A>C;ENST00000399978:exon6:c.391-2A>C;ENST00000592977:exon5:c.391-2A>C;ENST00000592331:exon5:c.169-2A>C;ENST00000588186:exon7:c.391-2A>C;ENST00000588191:exon8:c.391-2A>C;ENST00000589267:exon7:c.391-2A>C)	.	.	0.99994568797423	0.946
18	11889492	G	A	18	11889493	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00276004185425705	0.182
18	11889492	G	C	18	11889493	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.99969739450153	0.868
18	11889492	G	T	18	11889493	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.775060972191891	0.568
18	11889493	A	C	18	11889494	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.09135724916559E-5	0.004
18	11889493	A	G	18	11889494	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.24320192354489E-5	0.0
18	11889493	A	T	18	11889494	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.14270094944112E-5	0.0
18	11889494	G	A	18	11889495	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.79201715467824E-5	0.002
18	11889494	G	C	18	11889495	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.90301115434349E-4	0.122
18	11889494	G	T	18	11889495	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.70908894247706E-4	0.07
18	11889495	G	A	18	11889496	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.95990371092992E-4	0.022
18	11889495	G	C	18	11889496	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0101018090224719	0.228
18	11889495	G	T	18	11889496	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00151727661139809	0.216
18	11889496	G	A	18	11889497	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.95988366694445E-5	0.0
18	11889496	G	C	18	11889497	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.28166992998192E-4	0.05
18	11889496	G	T	18	11889497	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.45918869096847E-4	0.05
18	11889497	A	C	18	11889498	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.74022450474792E-5	0.014
18	11889497	A	G	18	11889498	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.64875479479698E-5	0.0
18	11889497	A	T	18	11889498	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.22363619313593E-4	0.012
18	11889498	A	C	18	11889499	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.18764679964152E-4	0.082
18	11889498	A	G	18	11889499	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.85812132970573E-5	0.008
18	11889498	A	T	18	11889499	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.31393135847463E-4	0.08
18	11889499	A	C	18	11889500	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.22048220589714E-5	0.082
18	11889499	A	G	18	11889500	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.67245238265631E-5	0.0
18	11889499	A	T	18	11889500	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.29329329700757E-4	0.076
18	11889500	A	C	18	11889501	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.70940169965214E-5	0.06
18	11889500	A	G	18	11889501	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.92471553294997E-5	0.002
18	11889500	A	T	18	11889501	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.01517011346759E-5	0.032
18	11889501	A	C	18	11889502	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.11168496103926E-4	0.066
18	11889501	A	G	18	11889502	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99811183665232E-4	0.008
18	11889501	A	T	18	11889502	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.48695962694956E-4	0.096
18	11893459	A	C	18	11893460	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.78959612380083E-6	0.0
18	11893459	A	G	18	11893460	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.78959612380083E-6	0.0
18	11893459	A	T	18	11893460	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99456598976157E-5	0.0
18	11893460	G	A	18	11893461	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.82237229848889E-5	0.022
18	11893460	G	C	18	11893461	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.82237229848889E-5	0.03
18	11893460	G	T	18	11893461	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.10993524491578E-5	0.024
18	11893461	T	A	18	11893462	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.06481237244302E-5	0.0
18	11893461	T	C	18	11893462	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.50251356910171E-5	0.004
18	11893461	T	G	18	11893462	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.8540895903166E-5	0.012
18	11893462	C	A	18	11893463	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999993115627507	0.916
18	11893462	C	G	18	11893463	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999976331648766	0.906
18	11893462	C	T	18	11893463	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.99994370943169	0.904
18	11893463	C	A	18	11893464	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.05070750666264E-4	0.03
18	11893463	C	G	18	11893464	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.65123255959347E-4	0.04
18	11893463	C	T	18	11893464	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.72389319886111E-4	0.156
18	11893464	T	A	18	11893465	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.983757731358002	0.804
18	11893464	T	C	18	11893465	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.732459532997143	0.51
18	11893464	T	G	18	11893465	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.994294579703092	0.85
18	11893465	A	C	18	11893466	y	y	splicing	MPPE1(NM_001242904:exon4:c.390+2T>G;NM_023075:exon5:c.390+2T>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.390+2T>G;ENST00000317235:exon5:c.390+2T>G;ENST00000496196:exon5:c.390+2T>G;ENST00000309976:exon4:c.390+2T>G;ENST00000317251:exon6:c.99+2T>G;ENST00000344987:exon5:c.390+2T>G;ENST00000399978:exon5:c.390+2T>G;ENST00000592977:exon4:c.390+2T>G;ENST00000592331:exon4:c.168+2T>G;ENST00000588186:exon6:c.390+2T>G;ENST00000588191:exon7:c.390+2T>G;ENST00000589267:exon6:c.390+2T>G)	.	.	0.999946188727699	0.934
18	11893465	A	G	18	11893466	y	y	splicing	MPPE1(NM_001242904:exon4:c.390+2T>C;NM_023075:exon5:c.390+2T>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.390+2T>C;ENST00000317235:exon5:c.390+2T>C;ENST00000496196:exon5:c.390+2T>C;ENST00000309976:exon4:c.390+2T>C;ENST00000317251:exon6:c.99+2T>C;ENST00000344987:exon5:c.390+2T>C;ENST00000399978:exon5:c.390+2T>C;ENST00000592977:exon4:c.390+2T>C;ENST00000592331:exon4:c.168+2T>C;ENST00000588186:exon6:c.390+2T>C;ENST00000588191:exon7:c.390+2T>C;ENST00000589267:exon6:c.390+2T>C)	.	.	0.943767559709858	0.634
18	11893465	A	T	18	11893466	y	y	splicing	MPPE1(NM_001242904:exon4:c.390+2T>A;NM_023075:exon5:c.390+2T>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.390+2T>A;ENST00000317235:exon5:c.390+2T>A;ENST00000496196:exon5:c.390+2T>A;ENST00000309976:exon4:c.390+2T>A;ENST00000317251:exon6:c.99+2T>A;ENST00000344987:exon5:c.390+2T>A;ENST00000399978:exon5:c.390+2T>A;ENST00000592977:exon4:c.390+2T>A;ENST00000592331:exon4:c.168+2T>A;ENST00000588186:exon6:c.390+2T>A;ENST00000588191:exon7:c.390+2T>A;ENST00000589267:exon6:c.390+2T>A)	.	.	0.99994568797423	0.944
18	11893466	C	A	18	11893467	y	y	splicing	MPPE1(NM_001242904:exon4:c.390+1G>T;NM_023075:exon5:c.390+1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.390+1G>T;ENST00000317235:exon5:c.390+1G>T;ENST00000496196:exon5:c.390+1G>T;ENST00000309976:exon4:c.390+1G>T;ENST00000317251:exon6:c.99+1G>T;ENST00000344987:exon5:c.390+1G>T;ENST00000399978:exon5:c.390+1G>T;ENST00000592977:exon4:c.390+1G>T;ENST00000592331:exon4:c.168+1G>T;ENST00000588186:exon6:c.390+1G>T;ENST00000588191:exon7:c.390+1G>T;ENST00000589267:exon6:c.390+1G>T)	.	.	0.999949496871441	0.942
18	11893466	C	G	18	11893467	y	y	splicing	MPPE1(NM_001242904:exon4:c.390+1G>C;NM_023075:exon5:c.390+1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.390+1G>C;ENST00000317235:exon5:c.390+1G>C;ENST00000496196:exon5:c.390+1G>C;ENST00000309976:exon4:c.390+1G>C;ENST00000317251:exon6:c.99+1G>C;ENST00000344987:exon5:c.390+1G>C;ENST00000399978:exon5:c.390+1G>C;ENST00000592977:exon4:c.390+1G>C;ENST00000592331:exon4:c.168+1G>C;ENST00000588186:exon6:c.390+1G>C;ENST00000588191:exon7:c.390+1G>C;ENST00000589267:exon6:c.390+1G>C)	.	.	0.999949496871441	0.946
18	11893466	C	T	18	11893467	y	y	splicing	MPPE1(NM_001242904:exon4:c.390+1G>A;NM_023075:exon5:c.390+1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.390+1G>A;ENST00000317235:exon5:c.390+1G>A;ENST00000496196:exon5:c.390+1G>A;ENST00000309976:exon4:c.390+1G>A;ENST00000317251:exon6:c.99+1G>A;ENST00000344987:exon5:c.390+1G>A;ENST00000399978:exon5:c.390+1G>A;ENST00000592977:exon4:c.390+1G>A;ENST00000592331:exon4:c.168+1G>A;ENST00000588186:exon6:c.390+1G>A;ENST00000588191:exon7:c.390+1G>A;ENST00000589267:exon6:c.390+1G>A)	.	.	0.999949496871441	0.942
18	11893467	C	A	18	11893468	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.G390T:p.E130D;MPPE1:NM_023075:exon4:c.G390T:p.E130D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G390T:p.E130D;ENSG00000154889:ENST00000496196:exon4:c.G390T:p.E130D;ENSG00000154889:ENST00000317235:exon4:c.G390T:p.E130D;ENSG00000154889:ENST00000588191:exon6:c.G390T:p.E130D;ENSG00000154889:ENST00000592977:exon3:c.G390T:p.E130D;ENSG00000154889:ENST00000589267:exon5:c.G390T:p.E130D;ENSG00000154889:ENST00000317251:exon5:c.G99T:p.E33D;ENSG00000154889:ENST00000309976:exon3:c.G390T:p.E130D;ENSG00000154889:ENST00000588072:exon4:c.G390T:p.E130D;ENSG00000154889:ENST00000399978:exon4:c.G390T:p.E130D;ENSG00000154889:ENST00000588186:exon5:c.G390T:p.E130D;ENSG00000154889:ENST00000592331:exon3:c.G168T:p.E56D;	0.999949254082533	0.99
18	11893467	C	G	18	11893468	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.G390C:p.E130D;MPPE1:NM_023075:exon4:c.G390C:p.E130D;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G390C:p.E130D;ENSG00000154889:ENST00000496196:exon4:c.G390C:p.E130D;ENSG00000154889:ENST00000317235:exon4:c.G390C:p.E130D;ENSG00000154889:ENST00000588191:exon6:c.G390C:p.E130D;ENSG00000154889:ENST00000592977:exon3:c.G390C:p.E130D;ENSG00000154889:ENST00000589267:exon5:c.G390C:p.E130D;ENSG00000154889:ENST00000317251:exon5:c.G99C:p.E33D;ENSG00000154889:ENST00000309976:exon3:c.G390C:p.E130D;ENSG00000154889:ENST00000588072:exon4:c.G390C:p.E130D;ENSG00000154889:ENST00000399978:exon4:c.G390C:p.E130D;ENSG00000154889:ENST00000588186:exon5:c.G390C:p.E130D;ENSG00000154889:ENST00000592331:exon3:c.G168C:p.E56D;	0.999988134363716	0.988
18	11893467	C	T	18	11893468	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon3:c.G390A:p.E130E;MPPE1:NM_023075:exon4:c.G390A:p.E130E;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G390A:p.E130E;ENSG00000154889:ENST00000496196:exon4:c.G390A:p.E130E;ENSG00000154889:ENST00000317235:exon4:c.G390A:p.E130E;ENSG00000154889:ENST00000588191:exon6:c.G390A:p.E130E;ENSG00000154889:ENST00000592977:exon3:c.G390A:p.E130E;ENSG00000154889:ENST00000589267:exon5:c.G390A:p.E130E;ENSG00000154889:ENST00000317251:exon5:c.G99A:p.E33E;ENSG00000154889:ENST00000309976:exon3:c.G390A:p.E130E;ENSG00000154889:ENST00000588072:exon4:c.G390A:p.E130E;ENSG00000154889:ENST00000399978:exon4:c.G390A:p.E130E;ENSG00000154889:ENST00000588186:exon5:c.G390A:p.E130E;ENSG00000154889:ENST00000592331:exon3:c.G168A:p.E56E;	0.999934603384289	0.986
18	11893468	T	A	18	11893469	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.A389T:p.E130V;MPPE1:NM_023075:exon4:c.A389T:p.E130V;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.A389T:p.E130V;ENSG00000154889:ENST00000496196:exon4:c.A389T:p.E130V;ENSG00000154889:ENST00000317235:exon4:c.A389T:p.E130V;ENSG00000154889:ENST00000588191:exon6:c.A389T:p.E130V;ENSG00000154889:ENST00000592977:exon3:c.A389T:p.E130V;ENSG00000154889:ENST00000589267:exon5:c.A389T:p.E130V;ENSG00000154889:ENST00000317251:exon5:c.A98T:p.E33V;ENSG00000154889:ENST00000309976:exon3:c.A389T:p.E130V;ENSG00000154889:ENST00000588072:exon4:c.A389T:p.E130V;ENSG00000154889:ENST00000399978:exon4:c.A389T:p.E130V;ENSG00000154889:ENST00000588186:exon5:c.A389T:p.E130V;ENSG00000154889:ENST00000592331:exon3:c.A167T:p.E56V;	0.999418737021459	0.992
18	11893468	T	C	18	11893469	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.A389G:p.E130G;MPPE1:NM_023075:exon4:c.A389G:p.E130G;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.A389G:p.E130G;ENSG00000154889:ENST00000496196:exon4:c.A389G:p.E130G;ENSG00000154889:ENST00000317235:exon4:c.A389G:p.E130G;ENSG00000154889:ENST00000588191:exon6:c.A389G:p.E130G;ENSG00000154889:ENST00000592977:exon3:c.A389G:p.E130G;ENSG00000154889:ENST00000589267:exon5:c.A389G:p.E130G;ENSG00000154889:ENST00000317251:exon5:c.A98G:p.E33G;ENSG00000154889:ENST00000309976:exon3:c.A389G:p.E130G;ENSG00000154889:ENST00000588072:exon4:c.A389G:p.E130G;ENSG00000154889:ENST00000399978:exon4:c.A389G:p.E130G;ENSG00000154889:ENST00000588186:exon5:c.A389G:p.E130G;ENSG00000154889:ENST00000592331:exon3:c.A167G:p.E56G;	0.999176257440136	0.976
18	11893468	T	G	18	11893469	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.A389C:p.E130A;MPPE1:NM_023075:exon4:c.A389C:p.E130A;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.A389C:p.E130A;ENSG00000154889:ENST00000496196:exon4:c.A389C:p.E130A;ENSG00000154889:ENST00000317235:exon4:c.A389C:p.E130A;ENSG00000154889:ENST00000588191:exon6:c.A389C:p.E130A;ENSG00000154889:ENST00000592977:exon3:c.A389C:p.E130A;ENSG00000154889:ENST00000589267:exon5:c.A389C:p.E130A;ENSG00000154889:ENST00000317251:exon5:c.A98C:p.E33A;ENSG00000154889:ENST00000309976:exon3:c.A389C:p.E130A;ENSG00000154889:ENST00000588072:exon4:c.A389C:p.E130A;ENSG00000154889:ENST00000399978:exon4:c.A389C:p.E130A;ENSG00000154889:ENST00000588186:exon5:c.A389C:p.E130A;ENSG00000154889:ENST00000592331:exon3:c.A167C:p.E56A;	0.829707047984916	0.724
18	11893469	C	A	18	11893470	y	y	exonic	MPPE1	stopgain SNV	MPPE1:NM_001242904:exon3:c.G388T:p.E130X;MPPE1:NM_023075:exon4:c.G388T:p.E130X;	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000344987:exon4:c.G388T:p.E130X;ENSG00000154889:ENST00000496196:exon4:c.G388T:p.E130X;ENSG00000154889:ENST00000317235:exon4:c.G388T:p.E130X;ENSG00000154889:ENST00000588191:exon6:c.G388T:p.E130X;ENSG00000154889:ENST00000592977:exon3:c.G388T:p.E130X;ENSG00000154889:ENST00000589267:exon5:c.G388T:p.E130X;ENSG00000154889:ENST00000317251:exon5:c.G97T:p.E33X;ENSG00000154889:ENST00000309976:exon3:c.G388T:p.E130X;ENSG00000154889:ENST00000588072:exon4:c.G388T:p.E130X;ENSG00000154889:ENST00000399978:exon4:c.G388T:p.E130X;ENSG00000154889:ENST00000588186:exon5:c.G388T:p.E130X;ENSG00000154889:ENST00000592331:exon3:c.G166T:p.E56X;	5.53166978843282E-4	0.152
18	11893469	C	G	18	11893470	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.G388C:p.E130Q;MPPE1:NM_023075:exon4:c.G388C:p.E130Q;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G388C:p.E130Q;ENSG00000154889:ENST00000496196:exon4:c.G388C:p.E130Q;ENSG00000154889:ENST00000317235:exon4:c.G388C:p.E130Q;ENSG00000154889:ENST00000588191:exon6:c.G388C:p.E130Q;ENSG00000154889:ENST00000592977:exon3:c.G388C:p.E130Q;ENSG00000154889:ENST00000589267:exon5:c.G388C:p.E130Q;ENSG00000154889:ENST00000317251:exon5:c.G97C:p.E33Q;ENSG00000154889:ENST00000309976:exon3:c.G388C:p.E130Q;ENSG00000154889:ENST00000588072:exon4:c.G388C:p.E130Q;ENSG00000154889:ENST00000399978:exon4:c.G388C:p.E130Q;ENSG00000154889:ENST00000588186:exon5:c.G388C:p.E130Q;ENSG00000154889:ENST00000592331:exon3:c.G166C:p.E56Q;	1.14127032101363E-5	0.0
18	11893469	C	T	18	11893470	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.G388A:p.E130K;MPPE1:NM_023075:exon4:c.G388A:p.E130K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G388A:p.E130K;ENSG00000154889:ENST00000496196:exon4:c.G388A:p.E130K;ENSG00000154889:ENST00000317235:exon4:c.G388A:p.E130K;ENSG00000154889:ENST00000588191:exon6:c.G388A:p.E130K;ENSG00000154889:ENST00000592977:exon3:c.G388A:p.E130K;ENSG00000154889:ENST00000589267:exon5:c.G388A:p.E130K;ENSG00000154889:ENST00000317251:exon5:c.G97A:p.E33K;ENSG00000154889:ENST00000309976:exon3:c.G388A:p.E130K;ENSG00000154889:ENST00000588072:exon4:c.G388A:p.E130K;ENSG00000154889:ENST00000399978:exon4:c.G388A:p.E130K;ENSG00000154889:ENST00000588186:exon5:c.G388A:p.E130K;ENSG00000154889:ENST00000592331:exon3:c.G166A:p.E56K;	8.9827158902652E-6	0.0
18	11893574	C	A	18	11893575	y	y	exonic	MPPE1	stopgain SNV	MPPE1:NM_001242904:exon3:c.G283T:p.E95X;MPPE1:NM_023075:exon4:c.G283T:p.E95X;	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000344987:exon4:c.G283T:p.E95X;ENSG00000154889:ENST00000496196:exon4:c.G283T:p.E95X;ENSG00000154889:ENST00000317235:exon4:c.G283T:p.E95X;ENSG00000154889:ENST00000588191:exon6:c.G283T:p.E95X;ENSG00000154889:ENST00000592977:exon3:c.G283T:p.E95X;ENSG00000154889:ENST00000589267:exon5:c.G283T:p.E95X;ENSG00000154889:ENST00000309976:exon3:c.G283T:p.E95X;ENSG00000154889:ENST00000588072:exon4:c.G283T:p.E95X;ENSG00000154889:ENST00000399978:exon4:c.G283T:p.E95X;ENSG00000154889:ENST00000588186:exon5:c.G283T:p.E95X;	0.720754526381869	0.774
18	11893574	C	G	18	11893575	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.G283C:p.E95Q;MPPE1:NM_023075:exon4:c.G283C:p.E95Q;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G283C:p.E95Q;ENSG00000154889:ENST00000496196:exon4:c.G283C:p.E95Q;ENSG00000154889:ENST00000317235:exon4:c.G283C:p.E95Q;ENSG00000154889:ENST00000588191:exon6:c.G283C:p.E95Q;ENSG00000154889:ENST00000592977:exon3:c.G283C:p.E95Q;ENSG00000154889:ENST00000589267:exon5:c.G283C:p.E95Q;ENSG00000154889:ENST00000309976:exon3:c.G283C:p.E95Q;ENSG00000154889:ENST00000588072:exon4:c.G283C:p.E95Q;ENSG00000154889:ENST00000399978:exon4:c.G283C:p.E95Q;ENSG00000154889:ENST00000588186:exon5:c.G283C:p.E95Q;	0.474546236633451	0.638
18	11893574	C	T	18	11893575	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.G283A:p.E95K;MPPE1:NM_023075:exon4:c.G283A:p.E95K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G283A:p.E95K;ENSG00000154889:ENST00000496196:exon4:c.G283A:p.E95K;ENSG00000154889:ENST00000317235:exon4:c.G283A:p.E95K;ENSG00000154889:ENST00000588191:exon6:c.G283A:p.E95K;ENSG00000154889:ENST00000592977:exon3:c.G283A:p.E95K;ENSG00000154889:ENST00000589267:exon5:c.G283A:p.E95K;ENSG00000154889:ENST00000309976:exon3:c.G283A:p.E95K;ENSG00000154889:ENST00000588072:exon4:c.G283A:p.E95K;ENSG00000154889:ENST00000399978:exon4:c.G283A:p.E95K;ENSG00000154889:ENST00000588186:exon5:c.G283A:p.E95K;	0.478507675329242	0.542
18	11893575	C	A	18	11893576	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.G282T:p.R94S;MPPE1:NM_023075:exon4:c.G282T:p.R94S;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G282T:p.R94S;ENSG00000154889:ENST00000496196:exon4:c.G282T:p.R94S;ENSG00000154889:ENST00000317235:exon4:c.G282T:p.R94S;ENSG00000154889:ENST00000588191:exon6:c.G282T:p.R94S;ENSG00000154889:ENST00000592977:exon3:c.G282T:p.R94S;ENSG00000154889:ENST00000589267:exon5:c.G282T:p.R94S;ENSG00000154889:ENST00000309976:exon3:c.G282T:p.R94S;ENSG00000154889:ENST00000588072:exon4:c.G282T:p.R94S;ENSG00000154889:ENST00000399978:exon4:c.G282T:p.R94S;ENSG00000154889:ENST00000588186:exon5:c.G282T:p.R94S;	0.998750929238575	0.962
18	11893575	C	G	18	11893576	y	y	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.G282C:p.R94S;MPPE1:NM_023075:exon4:c.G282C:p.R94S;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G282C:p.R94S;ENSG00000154889:ENST00000496196:exon4:c.G282C:p.R94S;ENSG00000154889:ENST00000317235:exon4:c.G282C:p.R94S;ENSG00000154889:ENST00000588191:exon6:c.G282C:p.R94S;ENSG00000154889:ENST00000592977:exon3:c.G282C:p.R94S;ENSG00000154889:ENST00000589267:exon5:c.G282C:p.R94S;ENSG00000154889:ENST00000309976:exon3:c.G282C:p.R94S;ENSG00000154889:ENST00000588072:exon4:c.G282C:p.R94S;ENSG00000154889:ENST00000399978:exon4:c.G282C:p.R94S;ENSG00000154889:ENST00000588186:exon5:c.G282C:p.R94S;	0.996035052597986	0.92
18	11893575	C	T	18	11893576	y	y	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon3:c.G282A:p.R94R;MPPE1:NM_023075:exon4:c.G282A:p.R94R;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000344987:exon4:c.G282A:p.R94R;ENSG00000154889:ENST00000496196:exon4:c.G282A:p.R94R;ENSG00000154889:ENST00000317235:exon4:c.G282A:p.R94R;ENSG00000154889:ENST00000588191:exon6:c.G282A:p.R94R;ENSG00000154889:ENST00000592977:exon3:c.G282A:p.R94R;ENSG00000154889:ENST00000589267:exon5:c.G282A:p.R94R;ENSG00000154889:ENST00000309976:exon3:c.G282A:p.R94R;ENSG00000154889:ENST00000588072:exon4:c.G282A:p.R94R;ENSG00000154889:ENST00000399978:exon4:c.G282A:p.R94R;ENSG00000154889:ENST00000588186:exon5:c.G282A:p.R94R;	0.996219067670803	0.738
18	11893576	C	A	18	11893577	y	y	splicing	MPPE1(NM_001242904:exon4:c.282-1G>T;NM_023075:exon5:c.282-1G>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.282-1G>T;ENST00000317235:exon5:c.282-1G>T;ENST00000496196:exon5:c.282-1G>T;ENST00000309976:exon4:c.282-1G>T;ENST00000344987:exon5:c.282-1G>T;ENST00000399978:exon5:c.282-1G>T;ENST00000592977:exon4:c.282-1G>T;ENST00000588186:exon6:c.282-1G>T;ENST00000588191:exon7:c.282-1G>T;ENST00000589267:exon6:c.282-1G>T)	.	.	0.999989125585301	0.944
18	11893576	C	G	18	11893577	y	y	splicing	MPPE1(NM_001242904:exon4:c.282-1G>C;NM_023075:exon5:c.282-1G>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.282-1G>C;ENST00000317235:exon5:c.282-1G>C;ENST00000496196:exon5:c.282-1G>C;ENST00000309976:exon4:c.282-1G>C;ENST00000344987:exon5:c.282-1G>C;ENST00000399978:exon5:c.282-1G>C;ENST00000592977:exon4:c.282-1G>C;ENST00000588186:exon6:c.282-1G>C;ENST00000588191:exon7:c.282-1G>C;ENST00000589267:exon6:c.282-1G>C)	.	.	0.999989125585301	0.944
18	11893576	C	T	18	11893577	y	y	splicing	MPPE1(NM_001242904:exon4:c.282-1G>A;NM_023075:exon5:c.282-1G>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.282-1G>A;ENST00000317235:exon5:c.282-1G>A;ENST00000496196:exon5:c.282-1G>A;ENST00000309976:exon4:c.282-1G>A;ENST00000344987:exon5:c.282-1G>A;ENST00000399978:exon5:c.282-1G>A;ENST00000592977:exon4:c.282-1G>A;ENST00000588186:exon6:c.282-1G>A;ENST00000588191:exon7:c.282-1G>A;ENST00000589267:exon6:c.282-1G>A)	.	.	0.999989125585301	0.944
18	11893577	T	A	18	11893578	y	y	splicing	MPPE1(NM_001242904:exon4:c.282-2A>T;NM_023075:exon5:c.282-2A>T)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.282-2A>T;ENST00000317235:exon5:c.282-2A>T;ENST00000496196:exon5:c.282-2A>T;ENST00000309976:exon4:c.282-2A>T;ENST00000344987:exon5:c.282-2A>T;ENST00000399978:exon5:c.282-2A>T;ENST00000592977:exon4:c.282-2A>T;ENST00000588186:exon6:c.282-2A>T;ENST00000588191:exon7:c.282-2A>T;ENST00000589267:exon6:c.282-2A>T)	.	.	0.999986741007567	0.946
18	11893577	T	C	18	11893578	y	y	splicing	MPPE1(NM_001242904:exon4:c.282-2A>G;NM_023075:exon5:c.282-2A>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.282-2A>G;ENST00000317235:exon5:c.282-2A>G;ENST00000496196:exon5:c.282-2A>G;ENST00000309976:exon4:c.282-2A>G;ENST00000344987:exon5:c.282-2A>G;ENST00000399978:exon5:c.282-2A>G;ENST00000592977:exon4:c.282-2A>G;ENST00000588186:exon6:c.282-2A>G;ENST00000588191:exon7:c.282-2A>G;ENST00000589267:exon6:c.282-2A>G)	.	.	0.999986741007567	0.946
18	11893577	T	G	18	11893578	y	y	splicing	MPPE1(NM_001242904:exon4:c.282-2A>C;NM_023075:exon5:c.282-2A>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon5:c.282-2A>C;ENST00000317235:exon5:c.282-2A>C;ENST00000496196:exon5:c.282-2A>C;ENST00000309976:exon4:c.282-2A>C;ENST00000344987:exon5:c.282-2A>C;ENST00000399978:exon5:c.282-2A>C;ENST00000592977:exon4:c.282-2A>C;ENST00000588186:exon6:c.282-2A>C;ENST00000588191:exon7:c.282-2A>C;ENST00000589267:exon6:c.282-2A>C)	.	.	0.999986741007567	0.946
18	11893578	T	A	18	11893579	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.87183125091472E-5	0.012
18	11893578	T	C	18	11893579	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0128665249978184	0.35
18	11893578	T	G	18	11893579	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.92269127999722E-5	0.022
18	11893579	G	A	18	11893580	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.60538936753184E-4	0.006
18	11893579	G	C	18	11893580	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.99330358719079E-4	0.034
18	11893579	G	T	18	11893580	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.00304827323808E-5	0.002
18	11893580	A	C	18	11893581	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.992874472836754	0.768
18	11893580	A	G	18	11893581	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.0700824981397E-4	0.046
18	11893580	A	T	18	11893581	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.128180789544157	0.242
18	11893581	T	A	18	11893582	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.12045736040035E-5	0.0
18	11893581	T	C	18	11893582	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.34186850633657E-5	0.026
18	11893581	T	G	18	11893582	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.12045736040035E-5	0.0
18	11893582	G	A	18	11893583	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.28734110566352E-5	0.002
18	11893582	G	C	18	11893583	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.49449171586446E-4	0.1
18	11893582	G	T	18	11893583	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00224694125269622	0.122
18	11893583	C	A	18	11893584	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.88094385421532E-5	0.022
18	11893583	C	G	18	11893584	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.88094385421532E-5	0.006
18	11893583	C	T	18	11893584	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.10407166150793E-5	0.014
18	11893584	C	A	18	11893585	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.5700323692446E-4	0.072
18	11893584	C	G	18	11893585	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.5700323692446E-4	0.03
18	11893584	C	T	18	11893585	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999647086145289	0.98
18	11893585	A	C	18	11893586	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0815601316374203	0.534
18	11893585	A	G	18	11893586	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.36390051485103E-4	0.14
18	11893585	A	T	18	11893586	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999819274154601	0.976
18	11893586	A	C	18	11893587	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.994628667217361	0.874
18	11893586	A	G	18	11893587	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00364574290653406	0.14
18	11893586	A	T	18	11893587	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.519484738692698	0.432
18	11893587	T	A	18	11893588	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.49811543647207E-5	0.0
18	11893587	T	C	18	11893588	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.26041821652599E-5	0.104
18	11893587	T	G	18	11893588	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.49811543647207E-5	0.012
18	11895176	A	C	18	11895177	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.35428655471156E-5	0.006
18	11895176	A	G	18	11895177	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.35428655471156E-5	0.006
18	11895176	A	T	18	11895177	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.35428655471156E-5	0.004
18	11895177	C	A	18	11895178	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.09774573448081E-5	0.006
18	11895177	C	G	18	11895178	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.09774573448081E-5	0.004
18	11895177	C	T	18	11895178	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.44782069694124E-5	0.008
18	11895178	T	A	18	11895179	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.08739841361144E-4	0.004
18	11895178	T	C	18	11895179	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.08739841361144E-4	0.006
18	11895178	T	G	18	11895179	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.08739841361144E-4	0.006
18	11895179	C	A	18	11895180	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.47959532904733E-5	0.02
18	11895179	C	G	18	11895180	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.47959532904733E-5	0.014
18	11895179	C	T	18	11895180	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.47959532904733E-5	0.042
18	11895180	A	C	18	11895181	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.022
18	11895180	A	G	18	11895181	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.02
18	11895180	A	T	18	11895181	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.69884688945688E-4	0.004
18	11895181	C	A	18	11895182	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.002
18	11895181	C	G	18	11895182	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.002
18	11895181	C	T	18	11895182	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.07620641825897E-5	0.002
18	11895182	A	C	18	11895183	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592331:exon3:c.69+2T>G)	.	.	3.31929338280547E-5	0.0
18	11895182	A	G	18	11895183	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592331:exon3:c.69+2T>C)	.	.	3.31929338280547E-5	0.0
18	11895182	A	T	18	11895183	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592331:exon3:c.69+2T>A)	.	.	6.89925739660516E-5	0.004
18	11895183	C	A	18	11895184	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592331:exon3:c.69+1G>T)	.	.	4.09774573448081E-5	0.006
18	11895183	C	G	18	11895184	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592331:exon3:c.69+1G>C)	.	.	5.47959532904733E-5	0.03
18	11895183	C	T	18	11895184	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889(ENST00000592331:exon3:c.69+1G>A)	.	.	4.09774573448081E-5	0.004
18	11895184	C	A	18	11895185	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592331:exon2:c.G69T:p.Q23H;	1.99153316237132E-5	0.0
18	11895184	C	G	18	11895185	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592331:exon2:c.G69C:p.Q23H;	1.99153316237132E-5	0.0
18	11895184	C	T	18	11895185	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000592331:exon2:c.G69A:p.Q23Q;	3.07620641825897E-5	0.0
18	11895185	T	A	18	11895186	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592331:exon2:c.A68T:p.Q23L;	2.27163650926202E-4	0.014
18	11895185	T	C	18	11895186	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592331:exon2:c.A68G:p.Q23R;	9.57123356397867E-5	0.012
18	11895185	T	G	18	11895186	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592331:exon2:c.A68C:p.Q23P;	9.57123356397867E-5	0.012
18	11895186	G	A	18	11895187	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	stopgain SNV	ENSG00000154889:ENST00000592331:exon2:c.C67T:p.Q23X;	3.07620641825897E-5	0.002
18	11895186	G	C	18	11895187	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592331:exon2:c.C67G:p.Q23E;	1.99153316237132E-5	0.002
18	11895186	G	T	18	11895187	n	y	intronic	MPPE1	.	.	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000592331:exon2:c.C67A:p.Q23K;	1.99153316237132E-5	0.002
18	11895275	C	A	18	11895276	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.49453169148861E-5	0.01
18	11895275	C	G	18	11895276	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.49453169148861E-5	0.02
18	11895275	C	T	18	11895276	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.30852315876377E-5	0.01
18	11895276	T	A	18	11895277	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	9.57123356397867E-5	0.01
18	11895276	T	C	18	11895277	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	9.57123356397867E-5	0.01
18	11895276	T	G	18	11895277	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	9.57123356397867E-5	0.01
18	11895277	C	A	18	11895278	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.30852315876377E-5	0.012
18	11895277	C	G	18	11895278	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.30852315876377E-5	0.008
18	11895277	C	T	18	11895278	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	5.47959532904733E-5	0.016
18	11895278	T	A	18	11895279	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.27163650926202E-4	0.02
18	11895278	T	C	18	11895279	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.27163650926202E-4	0.014
18	11895278	T	G	18	11895279	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.27163650926202E-4	0.014
18	11895279	A	C	18	11895280	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.19654958573966E-5	0.012
18	11895279	A	G	18	11895280	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.19654958573966E-5	0.012
18	11895279	A	T	18	11895280	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57123356397867E-5	0.01
18	11895280	C	A	18	11895281	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11895280	C	G	18	11895281	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11895280	C	T	18	11895281	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11895281	A	C	18	11895282	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.19654958573966E-5	0.012
18	11895281	A	G	18	11895282	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.19654958573966E-5	0.012
18	11895281	A	T	18	11895282	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57123356397867E-5	0.01
18	11895282	A	C	18	11895283	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11895282	A	G	18	11895283	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11895282	A	T	18	11895283	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11895283	A	C	18	11895284	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57123356397867E-5	0.012
18	11895283	A	G	18	11895284	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57123356397867E-5	0.012
18	11895283	A	T	18	11895284	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57123356397867E-5	0.01
18	11895284	A	C	18	11895285	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57123356397867E-5	0.012
18	11895284	A	G	18	11895285	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57123356397867E-5	0.012
18	11895284	A	T	18	11895285	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.57123356397867E-5	0.01
18	11895285	A	C	18	11895286	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.014
18	11895285	A	G	18	11895286	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.016
18	11895285	A	T	18	11895286	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.014
18	11895286	A	C	18	11895287	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.016
18	11895286	A	G	18	11895287	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.014
18	11895286	A	T	18	11895287	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.014
18	11895287	G	A	18	11895288	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.07620641825897E-5	0.002
18	11895287	G	C	18	11895288	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.002
18	11895287	G	T	18	11895288	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.07620641825897E-5	0.002
18	11895288	T	A	18	11895289	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.69884688945688E-4	0.014
18	11895288	T	C	18	11895289	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.014
18	11895288	T	G	18	11895289	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27163650926202E-4	0.014
18	11896975	C	A	18	11896976	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.40092285192508E-5	0.0
18	11896975	C	G	18	11896976	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.33091009661142E-5	0.0
18	11896975	C	T	18	11896976	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.40092285192508E-5	0.0
18	11896976	C	A	18	11896977	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.87544548170259E-5	0.002
18	11896976	C	G	18	11896977	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.81474896170976E-5	0.002
18	11896976	C	T	18	11896977	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.81474896170976E-5	0.002
18	11896977	T	A	18	11896978	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.28891248993942E-5	0.006
18	11896977	T	C	18	11896978	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.15314222981244E-5	0.002
18	11896977	T	G	18	11896978	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.51726810720424E-5	0.012
18	11896978	C	A	18	11896979	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.630258870103661	0.442
18	11896978	C	G	18	11896979	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.412516236285209	0.394
18	11896978	C	T	18	11896979	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.543533248786338	0.37
18	11896979	T	A	18	11896980	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0300700726692089	0.308
18	11896979	T	C	18	11896980	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.140028555415627	0.394
18	11896979	T	G	18	11896980	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0258421357919149	0.336
18	11896980	T	A	18	11896981	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.903054457078898	0.518
18	11896980	T	C	18	11896981	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00345593801390069	0.194
18	11896980	T	G	18	11896981	y	n	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.93726701281919	0.568
18	11896981	A	C	18	11896982	y	n	splicing	MPPE1(NM_001242904:exon3:c.281+2T>G;NM_023075:exon4:c.281+2T>G)	.	.	splicing	ENSG00000154889(ENST00000588072:exon4:c.281+2T>G;ENST00000317235:exon4:c.281+2T>G;ENST00000496196:exon4:c.281+2T>G;ENST00000309976:exon3:c.281+2T>G;ENST00000344987:exon4:c.281+2T>G;ENST00000399978:exon4:c.281+2T>G;ENST00000592977:exon3:c.281+2T>G;ENST00000588186:exon5:c.281+2T>G;ENST00000588191:exon6:c.281+2T>G;ENST00000589267:exon5:c.281+2T>G)	.	.	0.999966514958823	0.944
18	11896981	A	G	18	11896982	y	n	splicing	MPPE1(NM_001242904:exon3:c.281+2T>C;NM_023075:exon4:c.281+2T>C)	.	.	splicing	ENSG00000154889(ENST00000588072:exon4:c.281+2T>C;ENST00000317235:exon4:c.281+2T>C;ENST00000496196:exon4:c.281+2T>C;ENST00000309976:exon3:c.281+2T>C;ENST00000344987:exon4:c.281+2T>C;ENST00000399978:exon4:c.281+2T>C;ENST00000592977:exon3:c.281+2T>C;ENST00000588186:exon5:c.281+2T>C;ENST00000588191:exon6:c.281+2T>C;ENST00000589267:exon5:c.281+2T>C)	.	.	0.964269326764053	0.614
18	11896981	A	T	18	11896982	y	n	splicing	MPPE1(NM_001242904:exon3:c.281+2T>A;NM_023075:exon4:c.281+2T>A)	.	.	splicing	ENSG00000154889(ENST00000588072:exon4:c.281+2T>A;ENST00000317235:exon4:c.281+2T>A;ENST00000496196:exon4:c.281+2T>A;ENST00000309976:exon3:c.281+2T>A;ENST00000344987:exon4:c.281+2T>A;ENST00000399978:exon4:c.281+2T>A;ENST00000592977:exon3:c.281+2T>A;ENST00000588186:exon5:c.281+2T>A;ENST00000588191:exon6:c.281+2T>A;ENST00000589267:exon5:c.281+2T>A)	.	.	0.999966203349492	0.944
18	11896982	C	A	18	11896983	y	n	splicing	MPPE1(NM_001242904:exon3:c.281+1G>T;NM_023075:exon4:c.281+1G>T)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon4:c.281+1G>T;ENST00000317235:exon4:c.281+1G>T;ENST00000496196:exon4:c.281+1G>T;ENST00000309976:exon3:c.281+1G>T;ENST00000344987:exon4:c.281+1G>T;ENST00000399978:exon4:c.281+1G>T;ENST00000592977:exon3:c.281+1G>T;ENST00000588186:exon5:c.281+1G>T;ENST00000588191:exon6:c.281+1G>T;ENST00000589267:exon5:c.281+1G>T)	nonsynonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.G282T:p.R94S;	0.999915710762489	0.95
18	11896982	C	G	18	11896983	y	n	splicing	MPPE1(NM_001242904:exon3:c.281+1G>C;NM_023075:exon4:c.281+1G>C)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon4:c.281+1G>C;ENST00000317235:exon4:c.281+1G>C;ENST00000496196:exon4:c.281+1G>C;ENST00000309976:exon3:c.281+1G>C;ENST00000344987:exon4:c.281+1G>C;ENST00000399978:exon4:c.281+1G>C;ENST00000592977:exon3:c.281+1G>C;ENST00000588186:exon5:c.281+1G>C;ENST00000588191:exon6:c.281+1G>C;ENST00000589267:exon5:c.281+1G>C)	nonsynonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.G282C:p.R94S;	0.999915710762489	0.954
18	11896982	C	T	18	11896983	y	n	splicing	MPPE1(NM_001242904:exon3:c.281+1G>A;NM_023075:exon4:c.281+1G>A)	.	.	exonic;splicing	ENSG00000154889;ENSG00000154889(ENST00000588072:exon4:c.281+1G>A;ENST00000317235:exon4:c.281+1G>A;ENST00000496196:exon4:c.281+1G>A;ENST00000309976:exon3:c.281+1G>A;ENST00000344987:exon4:c.281+1G>A;ENST00000399978:exon4:c.281+1G>A;ENST00000592977:exon3:c.281+1G>A;ENST00000588186:exon5:c.281+1G>A;ENST00000588191:exon6:c.281+1G>A;ENST00000589267:exon5:c.281+1G>A)	synonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.G282A:p.R94R;	0.999915710762489	0.95
18	11896983	C	A	18	11896984	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon2:c.G281T:p.R94M;MPPE1:NM_023075:exon3:c.G281T:p.R94M;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.G281T:p.R94M;ENSG00000154889:ENST00000344987:exon3:c.G281T:p.R94M;ENSG00000154889:ENST00000496196:exon3:c.G281T:p.R94M;ENSG00000154889:ENST00000317235:exon3:c.G281T:p.R94M;ENSG00000154889:ENST00000588191:exon5:c.G281T:p.R94M;ENSG00000154889:ENST00000592977:exon2:c.G281T:p.R94M;ENSG00000154889:ENST00000589267:exon4:c.G281T:p.R94M;ENSG00000154889:ENST00000309976:exon2:c.G281T:p.R94M;ENSG00000154889:ENST00000588072:exon3:c.G281T:p.R94M;ENSG00000154889:ENST00000399978:exon3:c.G281T:p.R94M;ENSG00000154889:ENST00000588186:exon4:c.G281T:p.R94M;	0.999964589029421	0.976
18	11896983	C	G	18	11896984	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon2:c.G281C:p.R94T;MPPE1:NM_023075:exon3:c.G281C:p.R94T;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.G281C:p.R94T;ENSG00000154889:ENST00000344987:exon3:c.G281C:p.R94T;ENSG00000154889:ENST00000496196:exon3:c.G281C:p.R94T;ENSG00000154889:ENST00000317235:exon3:c.G281C:p.R94T;ENSG00000154889:ENST00000588191:exon5:c.G281C:p.R94T;ENSG00000154889:ENST00000592977:exon2:c.G281C:p.R94T;ENSG00000154889:ENST00000589267:exon4:c.G281C:p.R94T;ENSG00000154889:ENST00000309976:exon2:c.G281C:p.R94T;ENSG00000154889:ENST00000588072:exon3:c.G281C:p.R94T;ENSG00000154889:ENST00000399978:exon3:c.G281C:p.R94T;ENSG00000154889:ENST00000588186:exon4:c.G281C:p.R94T;	0.999963528491013	0.962
18	11896983	C	T	18	11896984	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon2:c.G281A:p.R94K;MPPE1:NM_023075:exon3:c.G281A:p.R94K;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.G281A:p.R94K;ENSG00000154889:ENST00000344987:exon3:c.G281A:p.R94K;ENSG00000154889:ENST00000496196:exon3:c.G281A:p.R94K;ENSG00000154889:ENST00000317235:exon3:c.G281A:p.R94K;ENSG00000154889:ENST00000588191:exon5:c.G281A:p.R94K;ENSG00000154889:ENST00000592977:exon2:c.G281A:p.R94K;ENSG00000154889:ENST00000589267:exon4:c.G281A:p.R94K;ENSG00000154889:ENST00000309976:exon2:c.G281A:p.R94K;ENSG00000154889:ENST00000588072:exon3:c.G281A:p.R94K;ENSG00000154889:ENST00000399978:exon3:c.G281A:p.R94K;ENSG00000154889:ENST00000588186:exon4:c.G281A:p.R94K;	0.999956181516895	0.992
18	11896984	T	A	18	11896985	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon2:c.A280T:p.R94W;MPPE1:NM_023075:exon3:c.A280T:p.R94W;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.A280T:p.R94W;ENSG00000154889:ENST00000344987:exon3:c.A280T:p.R94W;ENSG00000154889:ENST00000496196:exon3:c.A280T:p.R94W;ENSG00000154889:ENST00000317235:exon3:c.A280T:p.R94W;ENSG00000154889:ENST00000588191:exon5:c.A280T:p.R94W;ENSG00000154889:ENST00000592977:exon2:c.A280T:p.R94W;ENSG00000154889:ENST00000589267:exon4:c.A280T:p.R94W;ENSG00000154889:ENST00000309976:exon2:c.A280T:p.R94W;ENSG00000154889:ENST00000588072:exon3:c.A280T:p.R94W;ENSG00000154889:ENST00000399978:exon3:c.A280T:p.R94W;ENSG00000154889:ENST00000588186:exon4:c.A280T:p.R94W;	0.991062747976756	0.804
18	11896984	T	C	18	11896985	y	n	exonic	MPPE1	nonsynonymous SNV	MPPE1:NM_001242904:exon2:c.A280G:p.R94G;MPPE1:NM_023075:exon3:c.A280G:p.R94G;	exonic	ENSG00000154889	nonsynonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.A280G:p.R94G;ENSG00000154889:ENST00000344987:exon3:c.A280G:p.R94G;ENSG00000154889:ENST00000496196:exon3:c.A280G:p.R94G;ENSG00000154889:ENST00000317235:exon3:c.A280G:p.R94G;ENSG00000154889:ENST00000588191:exon5:c.A280G:p.R94G;ENSG00000154889:ENST00000592977:exon2:c.A280G:p.R94G;ENSG00000154889:ENST00000589267:exon4:c.A280G:p.R94G;ENSG00000154889:ENST00000309976:exon2:c.A280G:p.R94G;ENSG00000154889:ENST00000588072:exon3:c.A280G:p.R94G;ENSG00000154889:ENST00000399978:exon3:c.A280G:p.R94G;ENSG00000154889:ENST00000588186:exon4:c.A280G:p.R94G;	0.99081804471978	0.938
18	11896984	T	G	18	11896985	y	n	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon2:c.A280C:p.R94R;MPPE1:NM_023075:exon3:c.A280C:p.R94R;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.A280C:p.R94R;ENSG00000154889:ENST00000344987:exon3:c.A280C:p.R94R;ENSG00000154889:ENST00000496196:exon3:c.A280C:p.R94R;ENSG00000154889:ENST00000317235:exon3:c.A280C:p.R94R;ENSG00000154889:ENST00000588191:exon5:c.A280C:p.R94R;ENSG00000154889:ENST00000592977:exon2:c.A280C:p.R94R;ENSG00000154889:ENST00000589267:exon4:c.A280C:p.R94R;ENSG00000154889:ENST00000309976:exon2:c.A280C:p.R94R;ENSG00000154889:ENST00000588072:exon3:c.A280C:p.R94R;ENSG00000154889:ENST00000399978:exon3:c.A280C:p.R94R;ENSG00000154889:ENST00000588186:exon4:c.A280C:p.R94R;	0.221216478989084	0.39
18	11896985	T	A	18	11896986	y	n	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon2:c.A279T:p.R93R;MPPE1:NM_023075:exon3:c.A279T:p.R93R;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.A279T:p.R93R;ENSG00000154889:ENST00000344987:exon3:c.A279T:p.R93R;ENSG00000154889:ENST00000496196:exon3:c.A279T:p.R93R;ENSG00000154889:ENST00000317235:exon3:c.A279T:p.R93R;ENSG00000154889:ENST00000588191:exon5:c.A279T:p.R93R;ENSG00000154889:ENST00000592977:exon2:c.A279T:p.R93R;ENSG00000154889:ENST00000589267:exon4:c.A279T:p.R93R;ENSG00000154889:ENST00000309976:exon2:c.A279T:p.R93R;ENSG00000154889:ENST00000588072:exon3:c.A279T:p.R93R;ENSG00000154889:ENST00000399978:exon3:c.A279T:p.R93R;ENSG00000154889:ENST00000588186:exon4:c.A279T:p.R93R;	8.10785834390065E-4	0.12
18	11896985	T	C	18	11896986	y	n	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon2:c.A279G:p.R93R;MPPE1:NM_023075:exon3:c.A279G:p.R93R;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.A279G:p.R93R;ENSG00000154889:ENST00000344987:exon3:c.A279G:p.R93R;ENSG00000154889:ENST00000496196:exon3:c.A279G:p.R93R;ENSG00000154889:ENST00000317235:exon3:c.A279G:p.R93R;ENSG00000154889:ENST00000588191:exon5:c.A279G:p.R93R;ENSG00000154889:ENST00000592977:exon2:c.A279G:p.R93R;ENSG00000154889:ENST00000589267:exon4:c.A279G:p.R93R;ENSG00000154889:ENST00000309976:exon2:c.A279G:p.R93R;ENSG00000154889:ENST00000588072:exon3:c.A279G:p.R93R;ENSG00000154889:ENST00000399978:exon3:c.A279G:p.R93R;ENSG00000154889:ENST00000588186:exon4:c.A279G:p.R93R;	4.49629513830176E-5	0.0
18	11896985	T	G	18	11896986	y	n	exonic	MPPE1	synonymous SNV	MPPE1:NM_001242904:exon2:c.A279C:p.R93R;MPPE1:NM_023075:exon3:c.A279C:p.R93R;	exonic	ENSG00000154889	synonymous SNV	ENSG00000154889:ENST00000590501:exon6:c.A279C:p.R93R;ENSG00000154889:ENST00000344987:exon3:c.A279C:p.R93R;ENSG00000154889:ENST00000496196:exon3:c.A279C:p.R93R;ENSG00000154889:ENST00000317235:exon3:c.A279C:p.R93R;ENSG00000154889:ENST00000588191:exon5:c.A279C:p.R93R;ENSG00000154889:ENST00000592977:exon2:c.A279C:p.R93R;ENSG00000154889:ENST00000589267:exon4:c.A279C:p.R93R;ENSG00000154889:ENST00000309976:exon2:c.A279C:p.R93R;ENSG00000154889:ENST00000588072:exon3:c.A279C:p.R93R;ENSG00000154889:ENST00000399978:exon3:c.A279C:p.R93R;ENSG00000154889:ENST00000588186:exon4:c.A279C:p.R93R;	2.39352260417035E-5	0.0
18	11897354	A	C	18	11897355	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	6.22841880573153E-5	0.0
18	11897354	A	G	18	11897355	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	9.31236634404223E-5	0.01
18	11897354	A	T	18	11897355	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	5.08364844736855E-5	0.0
18	11897355	C	A	18	11897356	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.0243715742563314	0.33
18	11897355	C	G	18	11897356	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.00117951600109388	0.122
18	11897355	C	T	18	11897356	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	5.36524737041756E-4	0.068
18	11897356	C	A	18	11897357	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999955485601963	0.91
18	11897356	C	G	18	11897357	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999955485601963	0.912
18	11897356	C	T	18	11897357	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999943620371814	0.93
18	11897357	T	A	18	11897358	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.99997739437695	0.912
18	11897357	T	C	18	11897358	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999982151912279	0.892
18	11897357	T	G	18	11897358	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999982151912279	0.89
18	11897358	A	C	18	11897359	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.977414506787106	0.582
18	11897358	A	G	18	11897359	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.21782223115327E-5	0.016
18	11897358	A	T	18	11897359	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00181393944695388	0.124
18	11897359	C	A	18	11897360	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.10520647290828E-4	0.0
18	11897359	C	G	18	11897360	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.25820610536785E-5	0.004
18	11897359	C	T	18	11897360	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.10754251582927E-5	0.0
18	11897360	G	A	18	11897361	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.27548350319013E-5	0.0
18	11897360	G	C	18	11897361	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.79391692715372E-4	0.108
18	11897360	G	T	18	11897361	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.689619045200243	0.794
18	11897361	G	A	18	11897362	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.94683312493496E-5	0.01
18	11897361	G	C	18	11897362	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.04422508878234E-4	0.102
18	11897361	G	T	18	11897362	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.40340403330147E-4	0.096
18	11897362	G	A	18	11897363	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.52499952036027E-5	0.048
18	11897362	G	C	18	11897363	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.06415367403638E-4	0.02
18	11897362	G	T	18	11897363	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.69092669396487E-4	0.032
18	11897363	A	C	18	11897364	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.76668814693295E-5	0.038
18	11897363	A	G	18	11897364	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.68134885716014E-5	0.0
18	11897363	A	T	18	11897364	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.76668814693295E-5	0.05
18	11897364	A	C	18	11897365	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.10189605436446E-4	0.124
18	11897364	A	G	18	11897365	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.88994432442517E-4	0.012
18	11897364	A	T	18	11897365	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.1121376885902E-4	0.134
18	11897365	A	C	18	11897366	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00113901498019162	0.278
18	11897365	A	G	18	11897366	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.50907256914478E-4	0.046
18	11897365	A	T	18	11897366	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00245427610697122	0.302
18	11897366	A	C	18	11897367	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.53597730502903E-4	0.178
18	11897366	A	G	18	11897367	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.98924897802069E-5	0.056
18	11897366	A	T	18	11897367	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.90328084570316E-4	0.154
18	11897367	G	A	18	11897368	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.11449994168388E-5	0.002
18	11897367	G	C	18	11897368	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.69660088399747E-5	0.016
18	11897367	G	T	18	11897368	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.23837894348171E-4	0.028
18	11897517	C	A	18	11897518	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.75061533442063E-5	0.018
18	11897517	C	G	18	11897518	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.75061533442063E-5	0.006
18	11897517	C	T	18	11897518	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.80476933978685E-5	0.0
18	11897518	A	C	18	11897519	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.4243997895107E-5	0.008
18	11897518	A	G	18	11897519	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.4243997895107E-5	0.01
18	11897518	A	T	18	11897519	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.4243997895107E-5	0.008
18	11897519	A	C	18	11897520	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.15729005645545E-5	0.004
18	11897519	A	G	18	11897520	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.15729005645545E-5	0.004
18	11897519	A	T	18	11897520	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.15729005645545E-5	0.006
18	11897520	C	A	18	11897521	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.0288925866825E-5	0.0
18	11897520	C	G	18	11897521	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.0288925866825E-5	0.0
18	11897520	C	T	18	11897521	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.0288925866825E-5	0.0
18	11897521	T	A	18	11897522	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.71486889510802E-5	0.002
18	11897521	T	C	18	11897522	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.58927937202005E-5	0.004
18	11897521	T	G	18	11897522	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.58927937202005E-5	0.004
18	11897522	G	A	18	11897523	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.19654958573966E-5	0.016
18	11897522	G	C	18	11897523	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.19654958573966E-5	0.022
18	11897522	G	T	18	11897523	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.19654958573966E-5	0.024
18	11897523	A	C	18	11897524	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	9.57123356397867E-5	0.016
18	11897523	A	G	18	11897524	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	9.57123356397867E-5	0.016
18	11897523	A	T	18	11897524	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	9.57123356397867E-5	0.014
18	11897524	C	A	18	11897525	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.58927937202005E-5	0.0
18	11897524	C	G	18	11897525	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.58927937202005E-5	0.0
18	11897524	C	T	18	11897525	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.58927937202005E-5	0.0
18	11897525	C	A	18	11897526	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.58927937202005E-5	0.0
18	11897525	C	G	18	11897526	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.58927937202005E-5	0.0
18	11897525	C	T	18	11897526	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.58927937202005E-5	0.0
18	11897526	T	A	18	11897527	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11897526	T	C	18	11897527	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11897526	T	G	18	11897527	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11897527	C	A	18	11897528	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.30338091304305E-5	0.0
18	11897527	C	G	18	11897528	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.30338091304305E-5	0.0
18	11897527	C	T	18	11897528	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.30338091304305E-5	0.0
18	11897618	T	A	18	11897619	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	5.86590924201456E-5	0.0
18	11897618	T	C	18	11897619	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.84397551808994E-5	0.12
18	11897618	T	G	18	11897619	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.84397551808994E-5	0.072
18	11897619	T	A	18	11897620	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.82827935381688E-5	0.004
18	11897619	T	C	18	11897620	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.82827935381688E-5	0.014
18	11897619	T	G	18	11897620	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.82827935381688E-5	0.006
18	11897620	C	A	18	11897621	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	7.55948984093289E-5	0.032
18	11897620	C	G	18	11897621	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	7.55948984093289E-5	0.034
18	11897620	C	T	18	11897621	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	7.55948984093289E-5	0.032
18	11897621	T	A	18	11897622	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	4.7586829694842E-5	0.0
18	11897621	T	C	18	11897622	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	4.7586829694842E-5	0.0
18	11897621	T	G	18	11897622	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	4.7586829694842E-5	0.0
18	11897622	A	C	18	11897623	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.82827935381688E-5	0.004
18	11897622	A	G	18	11897623	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.82827935381688E-5	0.004
18	11897622	A	T	18	11897623	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.82827935381688E-5	0.004
18	11897623	G	A	18	11897624	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.24271619346451E-4	0.022
18	11897623	G	C	18	11897624	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.0306498048882E-4	0.024
18	11897623	G	T	18	11897624	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.24271619346451E-4	0.022
18	11897624	A	C	18	11897625	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.49520886589696E-4	0.008
18	11897624	A	G	18	11897625	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.49520886589696E-4	0.002
18	11897624	A	T	18	11897625	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.70649596487283E-4	0.0
18	11897625	A	C	18	11897626	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.3631910944881E-4	0.02
18	11897625	A	G	18	11897626	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.3631910944881E-4	0.022
18	11897625	A	T	18	11897626	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.39336737721313E-4	0.01
18	11897626	A	C	18	11897627	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.49520886589696E-4	0.004
18	11897626	A	G	18	11897627	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.49520886589696E-4	0.006
18	11897626	A	T	18	11897627	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.49520886589696E-4	0.02
18	11897627	T	A	18	11897628	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.01222157793641E-4	0.036
18	11897627	T	C	18	11897628	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.04278140930798E-5	0.038
18	11897627	T	G	18	11897628	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.04278140930798E-5	0.038
18	11897628	C	A	18	11897629	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.5779928443876E-4	0.044
18	11897628	C	G	18	11897629	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.38651049164659E-4	0.032
18	11897628	C	T	18	11897629	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.00078182992608E-4	0.04
18	11897629	A	C	18	11897630	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.29169183592587E-4	0.004
18	11897629	A	G	18	11897630	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.29169183592587E-4	0.004
18	11897629	A	T	18	11897630	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.62866404825729E-5	0.004
18	11897630	T	A	18	11897631	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.69439264402225E-5	0.0
18	11897630	T	C	18	11897631	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.69439264402225E-5	0.0
18	11897630	T	G	18	11897631	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.69439264402225E-5	0.0
18	11897631	C	A	18	11897632	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.02337758398172E-4	0.002
18	11897631	C	G	18	11897632	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.02337758398172E-4	0.002
18	11897631	C	T	18	11897632	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.02337758398172E-4	0.002
18	11902258	T	A	18	11902259	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.39457982047225E-5	0.004
18	11902258	T	C	18	11902259	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.39457982047225E-5	0.0
18	11902258	T	G	18	11902259	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.39457982047225E-5	0.0
18	11902259	C	A	18	11902260	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.68952365742707E-5	0.002
18	11902259	C	G	18	11902260	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.68952365742707E-5	0.002
18	11902259	C	T	18	11902260	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.68952365742707E-5	0.002
18	11902260	A	C	18	11902261	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.97728621093963E-5	0.0
18	11902260	A	G	18	11902261	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.97728621093963E-5	0.0
18	11902260	A	T	18	11902261	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.59706358747764E-5	0.0
18	11902261	C	A	18	11902262	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.89925739660516E-5	0.004
18	11902261	C	G	18	11902262	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.89925739660516E-5	0.004
18	11902261	C	T	18	11902262	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.89925739660516E-5	0.006
18	11902262	C	A	18	11902263	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.11657407965104E-4	0.006
18	11902262	C	G	18	11902263	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.11657407965104E-4	0.008
18	11902262	C	T	18	11902263	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.11657407965104E-4	0.008
18	11902263	C	A	18	11902264	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.68952365742707E-5	0.002
18	11902263	C	G	18	11902264	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.68952365742707E-5	0.002
18	11902263	C	T	18	11902264	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.68952365742707E-5	0.002
18	11902264	A	C	18	11902265	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.39457982047225E-5	0.0
18	11902264	A	G	18	11902265	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.39457982047225E-5	0.0
18	11902264	A	T	18	11902265	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.39457982047225E-5	0.0
18	11902265	C	A	18	11902266	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.67272766448078E-5	0.002
18	11902265	C	G	18	11902266	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.67272766448078E-5	0.0
18	11902265	C	T	18	11902266	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	6.67535614375061E-5	0.0
18	11902266	C	A	18	11902267	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.27456659313109E-5	0.0
18	11902266	C	G	18	11902267	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.27456659313109E-5	0.0
18	11902266	C	T	18	11902267	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.27456659313109E-5	0.0
18	11902267	T	A	18	11902268	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.39457982047225E-5	0.0
18	11902267	T	C	18	11902268	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.39457982047225E-5	0.0
18	11902267	T	G	18	11902268	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.39457982047225E-5	0.0
18	11902268	C	A	18	11902269	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.78929785447708E-5	0.004
18	11902268	C	G	18	11902269	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.78929785447708E-5	0.004
18	11902268	C	T	18	11902269	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.78929785447708E-5	0.004
18	11902356	C	A	18	11902357	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.38258961194127E-5	0.02
18	11902356	C	G	18	11902357	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.38258961194127E-5	0.024
18	11902356	C	T	18	11902357	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.38258961194127E-5	0.02
18	11902357	T	A	18	11902358	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.80109675654916E-5	0.0
18	11902357	T	C	18	11902358	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.80109675654916E-5	0.0
18	11902357	T	G	18	11902358	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.80109675654916E-5	0.0
18	11902358	C	A	18	11902359	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	7.27456659313109E-5	0.0
18	11902358	C	G	18	11902359	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	7.27456659313109E-5	0.0
18	11902358	C	T	18	11902359	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	7.27456659313109E-5	0.002
18	11902359	T	A	18	11902360	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	4.1020973109669E-5	0.0
18	11902359	T	C	18	11902360	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.256915070725E-5	0.0
18	11902359	T	G	18	11902360	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.256915070725E-5	0.0
18	11902360	G	A	18	11902361	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.78864525412067E-5	0.0
18	11902360	G	C	18	11902361	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.45277156108894E-5	0.0
18	11902360	G	T	18	11902361	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.78864525412067E-5	0.004
18	11902361	A	C	18	11902362	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.10250552304391E-5	0.0
18	11902361	A	G	18	11902362	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.10250552304391E-5	0.0
18	11902361	A	T	18	11902362	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.10250552304391E-5	0.0
18	11902362	G	A	18	11902363	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.27456659313109E-5	0.0
18	11902362	G	C	18	11902363	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.72760553213487E-5	0.006
18	11902362	G	T	18	11902363	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.27456659313109E-5	0.006
18	11902363	G	A	18	11902364	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.94504578802962E-5	0.0
18	11902363	G	C	18	11902364	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.27540433342777E-5	0.008
18	11902363	G	T	18	11902364	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.94504578802962E-5	0.014
18	11902364	G	A	18	11902365	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.6857887130806E-5	0.01
18	11902364	G	C	18	11902365	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.6857887130806E-5	0.01
18	11902364	G	T	18	11902365	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.6857887130806E-5	0.01
18	11902365	A	C	18	11902366	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.06619588578661E-5	0.008
18	11902365	A	G	18	11902366	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.06619588578661E-5	0.008
18	11902365	A	T	18	11902366	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.77993525610891E-5	0.0
18	11902366	T	A	18	11902367	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.455930068921E-5	0.002
18	11902366	T	C	18	11902367	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.38731564659595E-5	0.002
18	11902366	T	G	18	11902367	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.38731564659595E-5	0.002
18	11902367	A	C	18	11902368	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.83708300348738E-5	0.0
18	11902367	A	G	18	11902368	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.83708300348738E-5	0.0
18	11902367	A	T	18	11902368	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.83708300348738E-5	0.002
18	11902368	A	C	18	11902369	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.89925739660516E-5	0.006
18	11902368	A	G	18	11902369	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.89925739660516E-5	0.006
18	11902368	A	T	18	11902369	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.89925739660516E-5	0.008
18	11902369	A	C	18	11902370	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.08802802279601E-5	0.0
18	11902369	A	G	18	11902370	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.78864525412067E-5	0.0
18	11902369	A	T	18	11902370	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.49702646665041E-5	0.008
18	11902576	A	C	18	11902577	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.05089878083976E-4	0.04
18	11902576	A	G	18	11902577	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.05089878083976E-4	0.04
18	11902576	A	T	18	11902577	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.85892088628007E-5	0.04
18	11902577	T	A	18	11902578	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.54583771157E-5	0.0
18	11902577	T	C	18	11902578	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.64905445396362E-5	0.0
18	11902577	T	G	18	11902578	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.64905445396362E-5	0.0
18	11902578	G	A	18	11902579	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.58461283867531E-5	0.002
18	11902578	G	C	18	11902579	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.58461283867531E-5	0.002
18	11902578	G	T	18	11902579	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.58461283867531E-5	0.002
18	11902579	C	A	18	11902580	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.10138825602451E-5	0.006
18	11902579	C	G	18	11902580	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.10138825602451E-5	0.006
18	11902579	C	T	18	11902580	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.10138825602451E-5	0.006
18	11902580	T	A	18	11902581	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.93008933363103E-5	0.0
18	11902580	T	C	18	11902581	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.93008933363103E-5	0.0
18	11902580	T	G	18	11902581	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.93008933363103E-5	0.0
18	11902581	G	A	18	11902582	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.84430896923724E-5	0.0
18	11902581	G	C	18	11902582	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.64124613648393E-5	0.0
18	11902581	G	T	18	11902582	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	5.64124613648393E-5	0.0
18	11902582	A	C	18	11902583	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.27321730447807E-5	0.004
18	11902582	A	G	18	11902583	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.27321730447807E-5	0.004
18	11902582	A	T	18	11902583	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	4.7250081407851E-5	0.004
18	11902583	C	A	18	11902584	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	5.86590924201456E-5	0.012
18	11902583	C	G	18	11902584	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	7.84397551808994E-5	0.008
18	11902583	C	T	18	11902584	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	5.86590924201456E-5	0.0
18	11902584	C	A	18	11902585	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.50194159712178E-5	0.022
18	11902584	C	G	18	11902585	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.50194159712178E-5	0.028
18	11902584	C	T	18	11902585	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.50194159712178E-5	0.022
18	11902585	T	A	18	11902586	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.05089878083976E-4	0.008
18	11902585	T	C	18	11902586	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.05089878083976E-4	0.01
18	11902585	T	G	18	11902586	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.05089878083976E-4	0.008
18	11902586	T	A	18	11902587	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.05567792764038E-5	0.002
18	11902586	T	C	18	11902587	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.05567792764038E-5	0.002
18	11902586	T	G	18	11902587	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.05567792764038E-5	0.002
18	11905729	A	C	18	11905730	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.38206837572038E-4	0.056
18	11905729	A	G	18	11905730	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.38206837572038E-4	0.064
18	11905729	A	T	18	11905730	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.38206837572038E-4	0.026
18	11905730	G	A	18	11905731	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.2358802390823E-5	0.002
18	11905730	G	C	18	11905731	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.2358802390823E-5	0.002
18	11905730	G	T	18	11905731	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.2358802390823E-5	0.002
18	11905731	C	A	18	11905732	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.77346097862455E-4	0.052
18	11905731	C	G	18	11905732	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.77346097862455E-4	0.048
18	11905731	C	T	18	11905732	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.77346097862455E-4	0.076
18	11905732	C	A	18	11905733	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.77346097862455E-4	0.058
18	11905732	C	G	18	11905733	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.77346097862455E-4	0.044
18	11905732	C	T	18	11905733	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.77346097862455E-4	0.09
18	11905733	C	A	18	11905734	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.06907936306152E-5	0.004
18	11905733	C	G	18	11905734	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.06907936306152E-5	0.0
18	11905733	C	T	18	11905734	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.91125889811943E-5	0.006
18	11905734	T	A	18	11905735	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.25524929795369E-5	0.0
18	11905734	T	C	18	11905735	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.25524929795369E-5	0.0
18	11905734	T	G	18	11905735	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.25524929795369E-5	0.0
18	11905735	A	C	18	11905736	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905735	A	G	18	11905736	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905735	A	T	18	11905736	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.31929338280547E-5	0.002
18	11905736	C	A	18	11905737	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.77346097862455E-4	0.054
18	11905736	C	G	18	11905737	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.77346097862455E-4	0.044
18	11905736	C	T	18	11905737	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.77346097862455E-4	0.09
18	11905737	C	A	18	11905738	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.1738525533333E-5	0.0
18	11905737	C	G	18	11905738	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.08788427788342E-5	0.0
18	11905737	C	T	18	11905738	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.1738525533333E-5	0.004
18	11905738	T	A	18	11905739	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.98461840472671E-4	0.01
18	11905738	T	C	18	11905739	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.98461840472671E-4	0.01
18	11905738	T	G	18	11905739	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.98461840472671E-4	0.008
18	11905739	T	A	18	11905740	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.63360899965148E-5	0.0
18	11905739	T	C	18	11905740	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.52173701430229E-5	0.008
18	11905739	T	G	18	11905740	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.52173701430229E-5	0.008
18	11905903	C	A	18	11905904	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.77346097862455E-4	0.042
18	11905903	C	G	18	11905904	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	7.4720228130805E-5	0.04
18	11905903	C	T	18	11905904	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.77346097862455E-4	0.054
18	11905904	C	A	18	11905905	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.20241958305109E-5	0.0
18	11905904	C	G	18	11905905	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.20241958305109E-5	0.0
18	11905904	C	T	18	11905905	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.376460094711E-5	0.002
18	11905905	A	C	18	11905906	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905905	A	G	18	11905906	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.002
18	11905905	A	T	18	11905906	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905906	C	A	18	11905907	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.02885091851015E-4	0.046
18	11905906	C	G	18	11905907	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.02885091851015E-4	0.048
18	11905906	C	T	18	11905907	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.22570046749174E-4	0.05
18	11905907	T	A	18	11905908	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.42005417025298E-5	0.0
18	11905907	T	C	18	11905908	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.42005417025298E-5	0.0
18	11905907	T	G	18	11905908	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.42005417025298E-5	0.0
18	11905908	T	A	18	11905909	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.58927937202005E-5	0.002
18	11905908	T	C	18	11905909	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.58927937202005E-5	0.002
18	11905908	T	G	18	11905909	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.58927937202005E-5	0.002
18	11905909	A	C	18	11905910	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.18514214212084E-4	0.148
18	11905909	A	G	18	11905910	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.18514214212084E-4	0.148
18	11905909	A	T	18	11905910	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	2.38206837572038E-4	0.03
18	11905910	C	A	18	11905911	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.92786444512075E-5	0.0
18	11905910	C	G	18	11905911	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.78667633506325E-5	0.002
18	11905910	C	T	18	11905911	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	1.92786444512075E-5	0.004
18	11905911	C	A	18	11905912	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905911	C	G	18	11905912	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.004
18	11905911	C	T	18	11905912	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905912	C	A	18	11905913	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.81456590373184E-4	0.066
18	11905912	C	G	18	11905913	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.81456590373184E-4	0.052
18	11905912	C	T	18	11905913	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.81456590373184E-4	0.112
18	11905913	C	A	18	11905914	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.48367148474546E-5	0.002
18	11905913	C	G	18	11905914	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.37501361942679E-5	0.002
18	11905913	C	T	18	11905914	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.48367148474546E-5	0.004
18	11905951	T	A	18	11905952	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905951	T	C	18	11905952	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905951	T	G	18	11905952	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905952	T	A	18	11905953	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	1.0482661884663E-5	0.002
18	11905952	T	C	18	11905953	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	9.71495267734267E-6	0.002
18	11905952	T	G	18	11905953	n	y	intronic	MPPE1	.	.	UTR5	ENSG00000154889	.	.	9.71495267734267E-6	0.002
18	11905953	C	A	18	11905954	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905953	C	G	18	11905954	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905953	C	T	18	11905954	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	3.07620641825897E-5	0.0
18	11905954	T	A	18	11905955	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	9.71495267734267E-6	0.002
18	11905954	T	C	18	11905955	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	9.71495267734267E-6	0.002
18	11905954	T	G	18	11905955	n	y	intronic	MPPE1	.	.	splicing	ENSG00000154889	.	.	9.71495267734267E-6	0.002
18	11905955	G	A	18	11905956	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.37501361942679E-5	0.006
18	11905955	G	C	18	11905956	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.90177193295887E-6	0.006
18	11905955	G	T	18	11905956	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.90177193295887E-6	0.004
18	11905956	T	A	18	11905957	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.76365668220871E-4	0.07
18	11905956	T	C	18	11905957	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.58590285548191E-4	0.062
18	11905956	T	G	18	11905957	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.58590285548191E-4	0.066
18	11905957	G	A	18	11905958	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11905957	G	C	18	11905958	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11905957	G	T	18	11905958	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.99153316237132E-5	0.0
18	11905958	A	C	18	11905959	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.95311407513361E-6	0.002
18	11905958	A	G	18	11905959	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.95311407513361E-6	0.002
18	11905958	A	T	18	11905959	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.38294415292276E-5	0.002
18	11905959	G	A	18	11905960	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.37501361942679E-5	0.004
18	11905959	G	C	18	11905960	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.90177193295887E-6	0.02
18	11905959	G	T	18	11905960	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.37501361942679E-5	0.004
18	11905960	G	A	18	11905961	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.34208757508979E-4	0.068
18	11905960	G	C	18	11905961	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.34208757508979E-4	0.068
18	11905960	G	T	18	11905961	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.34208757508979E-4	0.068
18	11905961	A	C	18	11905962	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.30328457418564E-4	0.07
18	11905961	A	G	18	11905962	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.58590285548191E-4	0.068
18	11905961	A	T	18	11905962	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.76365668220871E-4	0.07
18	11905962	T	A	18	11905963	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.55740129284333E-5	0.054
18	11905962	T	C	18	11905963	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.02657524923954E-5	0.048
18	11905962	T	G	18	11905963	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.02657524923954E-5	0.046
18	11905963	A	C	18	11905964	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.68219155180855E-5	0.0
18	11905963	A	G	18	11905964	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.68219155180855E-5	0.0
18	11905963	A	T	18	11905964	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.14301101535901E-5	0.0
18	11905964	G	A	18	11905965	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.664585938191E-5	0.11
18	11905964	G	C	18	11905965	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.664585938191E-5	0.11
18	11905964	G	T	18	11905965	n	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.664585938191E-5	0.11
18	11906194	T	A	18	11906195	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.47348756796826E-5	0.0
18	11906194	T	C	18	11906195	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.17246496461593E-5	0.0
18	11906194	T	G	18	11906195	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.53929084429736E-6	0.0
18	11906195	A	C	18	11906196	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.09732192431298E-4	0.016
18	11906195	A	G	18	11906196	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	9.76708712960215E-5	0.036
18	11906195	A	T	18	11906196	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.31811415721827E-4	0.044
18	11906196	T	A	18	11906197	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.58645906776164E-5	0.002
18	11906196	T	C	18	11906197	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.83559129380614E-6	0.0
18	11906196	T	G	18	11906197	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.42497818921177E-5	0.016
18	11906197	A	C	18	11906198	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	4.54992063553762E-4	0.162
18	11906197	A	G	18	11906198	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.12240756679082E-4	0.034
18	11906197	A	T	18	11906198	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.7550482300487E-4	0.03
18	11906198	T	A	18	11906199	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.446063599635191	0.472
18	11906198	T	C	18	11906199	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.62701226468335	0.474
18	11906198	T	G	18	11906199	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.15095886480627	0.416
18	11906199	T	A	18	11906200	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.994506978132246	0.52
18	11906199	T	C	18	11906200	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.771084660987279	0.48
18	11906199	T	G	18	11906200	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.994506978132246	0.534
18	11906200	A	C	18	11906201	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999934238963947	0.694
18	11906200	A	G	18	11906201	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.981068665731234	0.59
18	11906200	A	T	18	11906201	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999934238963947	0.706
18	11906201	C	A	18	11906202	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.993805744446199	0.382
18	11906201	C	G	18	11906202	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.993805744446199	0.378
18	11906201	C	T	18	11906202	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.993805744446199	0.386
18	11906202	C	A	18	11906203	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.999923074611834	0.882
18	11906202	C	G	18	11906203	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.99996689114277	0.892
18	11906202	C	T	18	11906203	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.999965496024545	0.906
18	11906203	T	A	18	11906204	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.827904458122355	0.738
18	11906203	T	C	18	11906204	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.505368934947801	0.644
18	11906203	T	G	18	11906204	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.194040382227974	0.648
18	11906204	A	C	18	11906205	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.19552153980479E-5	0.004
18	11906204	A	G	18	11906205	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.47408483585621E-5	0.0
18	11906204	A	T	18	11906205	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.20543378537447E-5	0.0
18	11906307	A	C	18	11906308	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.00229481891047991	0.122
18	11906307	A	G	18	11906308	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.00143073738957314	0.188
18	11906307	A	T	18	11906308	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.00290908791489678	0.118
18	11906308	T	A	18	11906309	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.0016486448003635	0.106
18	11906308	T	C	18	11906309	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.20916457260096E-5	0.0
18	11906308	T	G	18	11906309	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	5.99982014819915E-4	0.014
18	11906309	C	A	18	11906310	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999970573868654	0.742
18	11906309	C	G	18	11906310	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999970573868654	0.74
18	11906309	C	T	18	11906310	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999970573868654	0.728
18	11906310	T	A	18	11906311	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999986021333997	0.75
18	11906310	T	C	18	11906311	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999965841304726	0.746
18	11906310	T	G	18	11906311	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999965841304726	0.746
18	11906311	G	A	18	11906312	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.43623264163769E-4	0.006
18	11906311	G	C	18	11906312	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.994380043696575	0.802
18	11906311	G	T	18	11906312	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.476344881512773	0.408
18	11906312	A	C	18	11906313	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.70484704985693E-5	0.01
18	11906312	A	G	18	11906313	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.76179001316738E-5	0.004
18	11906312	A	T	18	11906313	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.91678748905688E-5	0.004
18	11906313	A	C	18	11906314	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0360883304215045	0.194
18	11906313	A	G	18	11906314	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.9260369746778E-4	0.08
18	11906313	A	T	18	11906314	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.156221851460985	0.224
18	11906314	A	C	18	11906315	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.999908304844704	0.948
18	11906314	A	G	18	11906315	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.06014964628755E-4	0.042
18	11906314	A	T	18	11906315	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.373483914168607	0.38
18	11906315	T	A	18	11906316	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.01594051629152E-5	0.0
18	11906315	T	C	18	11906316	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.53326015850285E-4	0.0
18	11906315	T	G	18	11906316	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.01594051629152E-5	0.0
18	11906316	G	A	18	11906317	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.65694475541421E-5	0.0
18	11906316	G	C	18	11906317	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.9591415118214E-4	0.07
18	11906316	G	T	18	11906317	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.26954938567765E-4	0.018
18	11906317	A	C	18	11906318	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.450078383193348	0.386
18	11906317	A	G	18	11906318	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.90394778308918E-4	0.114
18	11906317	A	T	18	11906318	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.599226548806684	0.462
18	11906318	A	C	18	11906319	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.382829449170181	0.49
18	11906318	A	G	18	11906319	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.60513169174716E-4	0.046
18	11906318	A	T	18	11906319	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.167311041867505	0.458
18	11906319	A	C	18	11906320	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0452633644563475	0.406
18	11906319	A	G	18	11906320	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00111255318555529	0.134
18	11906319	A	T	18	11906320	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.0272821744224006	0.426
18	11906320	C	A	18	11906321	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.26579852941836E-5	0.018
18	11906320	C	G	18	11906321	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.40467481344745E-5	0.002
18	11906320	C	T	18	11906321	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	7.82491538859366E-5	0.06
18	11908192	A	C	18	11908193	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.80415081530158E-4	0.078
18	11908192	A	G	18	11908193	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	6.05353151996718E-4	0.17
18	11908192	A	T	18	11908193	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.2152867231461E-5	0.062
18	11908193	T	A	18	11908194	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.83826622556063E-4	0.046
18	11908193	T	C	18	11908194	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	1.93384885132592E-4	0.038
18	11908193	T	G	18	11908194	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	8.80830308709116E-5	0.008
18	11908194	A	C	18	11908195	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.623682982369084	0.57
18	11908194	A	G	18	11908195	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.695800214836855	0.578
18	11908194	A	T	18	11908195	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.789347720609679	0.588
18	11908195	C	A	18	11908196	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998653137132392	0.738
18	11908195	C	G	18	11908196	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998078093945768	0.762
18	11908195	C	T	18	11908196	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998653137132392	0.744
18	11908196	A	C	18	11908197	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.00332542388145567	0.098
18	11908196	A	G	18	11908197	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	2.62291506218718E-4	0.204
18	11908196	A	T	18	11908197	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	3.0181823811085E-4	0.11
18	11908197	T	A	18	11908198	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998506179700952	0.69
18	11908197	T	C	18	11908198	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.886589442327774	0.618
18	11908197	T	G	18	11908198	y	y	intronic	MPPE1	.	.	intronic	ENSG00000154889	.	.	0.998849232587114	0.714
18	11908198	A	C	18	11908199	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999672782869036	0.7
18	11908198	A	G	18	11908199	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.452050214748446	0.41
18	11908198	A	T	18	11908199	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999672782869036	0.704
18	11908199	C	A	18	11908200	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999931680510637	0.758
18	11908199	C	G	18	11908200	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999929297507086	0.748
18	11908199	C	T	18	11908200	y	y	splicing	MPPE1	.	.	splicing	ENSG00000154889	.	.	0.999931680510637	0.756
18	11908200	A	C	18	11908201	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	6.1349827176618E-4	0.094
18	11908200	A	G	18	11908201	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.00190206309635053	0.336
18	11908200	A	T	18	11908201	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	5.07190367981002E-5	0.088
18	11908201	A	C	18	11908202	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	2.21910622066216E-4	0.224
18	11908201	A	G	18	11908202	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	6.785164338692E-4	0.206
18	11908201	A	T	18	11908202	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.00106349524614369	0.214
18	11908202	C	A	18	11908203	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	0.0170829745566008	0.146
18	11908202	C	G	18	11908203	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	6.7166034099432E-5	0.06
18	11908202	C	T	18	11908203	y	y	UTR5	MPPE1	.	.	UTR5	ENSG00000154889	.	.	4.04921316144724E-5	0.076
18	11981127	G	A	18	11981128	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	5.69439264402225E-5	0.0
18	11981127	G	C	18	11981128	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	5.15941453541388E-5	0.002
18	11981127	G	T	18	11981128	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	5.69439264402225E-5	0.0
18	11981128	A	C	18	11981129	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	4.90028566392549E-5	0.002
18	11981128	A	G	18	11981129	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	4.90028566392549E-5	0.002
18	11981128	A	T	18	11981129	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	4.90028566392549E-5	0.0
18	11981129	G	A	18	11981130	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	3.3613950990319E-4	0.0
18	11981129	G	C	18	11981130	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	3.3613950990319E-4	0.0
18	11981129	G	T	18	11981130	n	y	upstream	IMPA2	.	.	UTR5	ENSG00000141401	.	.	3.3613950990319E-4	0.0
18	11981130	G	A	18	11981131	n	y	upstream	IMPA2	.	.	splicing	ENSG00000141401	.	.	5.05808194911997E-5	0.002
18	11981130	G	C	18	11981131	n	y	upstream	IMPA2	.	.	splicing	ENSG00000141401	.	.	5.05808194911997E-5	0.002
18	11981130	G	T	18	11981131	n	y	upstream	IMPA2	.	.	splicing	ENSG00000141401	.	.	5.05808194911997E-5	0.01
18	11981131	T	A	18	11981132	n	y	upstream	IMPA2	.	.	splicing	ENSG00000141401	.	.	7.5480235718294E-5	0.0
18	11981131	T	C	18	11981132	n	y	upstream	IMPA2	.	.	splicing	ENSG00000141401	.	.	7.5480235718294E-5	0.0
18	11981131	T	G	18	11981132	n	y	upstream	IMPA2	.	.	splicing	ENSG00000141401	.	.	7.5480235718294E-5	0.0
18	11981132	A	C	18	11981133	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.6714355815838E-5	0.006
18	11981132	A	G	18	11981133	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.6714355815838E-5	0.006
18	11981132	A	T	18	11981133	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.25950167179411E-5	0.004
18	11981133	A	C	18	11981134	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.5480235718294E-5	0.008
18	11981133	A	G	18	11981134	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.5480235718294E-5	0.008
18	11981133	A	T	18	11981134	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.5480235718294E-5	0.008
18	11981134	A	C	18	11981135	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.82035599739421E-5	0.002
18	11981134	A	G	18	11981135	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.82035599739421E-5	0.002
18	11981134	A	T	18	11981135	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.21649339220785E-5	0.0
18	11981135	G	A	18	11981136	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93750929994865E-5	0.0
18	11981135	G	C	18	11981136	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93750929994865E-5	0.0
18	11981135	G	T	18	11981136	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93750929994865E-5	0.0
18	11981136	C	A	18	11981137	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.05808194911997E-5	0.0
18	11981136	C	G	18	11981137	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.05808194911997E-5	0.006
18	11981136	C	T	18	11981137	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.58255349957421E-5	0.0
18	11981137	G	A	18	11981138	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.01315188657279E-5	0.0
18	11981137	G	C	18	11981138	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.01315188657279E-5	0.0
18	11981137	G	T	18	11981138	n	y	upstream	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.01315188657279E-5	0.0
18	11981762	C	A	18	11981763	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon1:c.C94A:p.Q32K;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon1:c.C94A:p.Q32K;ENSG00000141401:ENST00000383376:exon1:c.C94A:p.Q32K;ENSG00000141401:ENST00000269159:exon1:c.C94A:p.Q32K;ENSG00000141401:ENST00000590138:exon1:c.C94A:p.Q32K;	0.00288928539967486	0.028
18	11981762	C	G	18	11981763	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon1:c.C94G:p.Q32E;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon1:c.C94G:p.Q32E;ENSG00000141401:ENST00000383376:exon1:c.C94G:p.Q32E;ENSG00000141401:ENST00000269159:exon1:c.C94G:p.Q32E;ENSG00000141401:ENST00000590138:exon1:c.C94G:p.Q32E;	6.59883380346629E-5	0.026
18	11981762	C	T	18	11981763	y	y	exonic	IMPA2	stopgain SNV	IMPA2:NM_014214:exon1:c.C94T:p.Q32X;	exonic	ENSG00000141401	stopgain SNV	ENSG00000141401:ENST00000590107:exon1:c.C94T:p.Q32X;ENSG00000141401:ENST00000383376:exon1:c.C94T:p.Q32X;ENSG00000141401:ENST00000269159:exon1:c.C94T:p.Q32X;ENSG00000141401:ENST00000590138:exon1:c.C94T:p.Q32X;	0.158276839515416	0.498
18	11981763	A	C	18	11981764	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon1:c.A95C:p.Q32P;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon1:c.A95C:p.Q32P;ENSG00000141401:ENST00000383376:exon1:c.A95C:p.Q32P;ENSG00000141401:ENST00000269159:exon1:c.A95C:p.Q32P;ENSG00000141401:ENST00000590138:exon1:c.A95C:p.Q32P;	0.985790050651341	0.906
18	11981763	A	G	18	11981764	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon1:c.A95G:p.Q32R;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon1:c.A95G:p.Q32R;ENSG00000141401:ENST00000383376:exon1:c.A95G:p.Q32R;ENSG00000141401:ENST00000269159:exon1:c.A95G:p.Q32R;ENSG00000141401:ENST00000590138:exon1:c.A95G:p.Q32R;	0.9721106956384	0.758
18	11981763	A	T	18	11981764	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon1:c.A95T:p.Q32L;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon1:c.A95T:p.Q32L;ENSG00000141401:ENST00000383376:exon1:c.A95T:p.Q32L;ENSG00000141401:ENST00000269159:exon1:c.A95T:p.Q32L;ENSG00000141401:ENST00000590138:exon1:c.A95T:p.Q32L;	0.996749305578549	0.94
18	11981764	G	A	18	11981765	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon1:c.G96A:p.Q32Q;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon1:c.G96A:p.Q32Q;ENSG00000141401:ENST00000383376:exon1:c.G96A:p.Q32Q;ENSG00000141401:ENST00000269159:exon1:c.G96A:p.Q32Q;ENSG00000141401:ENST00000590138:exon1:c.G96A:p.Q32Q;	0.995022023446533	0.808
18	11981764	G	C	18	11981765	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon1:c.G96C:p.Q32H;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon1:c.G96C:p.Q32H;ENSG00000141401:ENST00000383376:exon1:c.G96C:p.Q32H;ENSG00000141401:ENST00000269159:exon1:c.G96C:p.Q32H;ENSG00000141401:ENST00000590138:exon1:c.G96C:p.Q32H;	0.999856960845633	0.808
18	11981764	G	T	18	11981765	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon1:c.G96T:p.Q32H;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon1:c.G96T:p.Q32H;ENSG00000141401:ENST00000383376:exon1:c.G96T:p.Q32H;ENSG00000141401:ENST00000269159:exon1:c.G96T:p.Q32H;ENSG00000141401:ENST00000590138:exon1:c.G96T:p.Q32H;	0.997639359126434	0.91
18	11981765	G	A	18	11981766	y	y	splicing	IMPA2(NM_014214:exon1:c.96+1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon1:c.96+1G>A;ENST00000590107:exon1:c.96+1G>A;ENST00000383376:exon1:c.96+1G>A;ENST00000590138:exon1:c.96+1G>A)	.	.	0.999993519952936	0.928
18	11981765	G	C	18	11981766	y	y	splicing	IMPA2(NM_014214:exon1:c.96+1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon1:c.96+1G>C;ENST00000590107:exon1:c.96+1G>C;ENST00000383376:exon1:c.96+1G>C;ENST00000590138:exon1:c.96+1G>C)	.	.	0.999993519952936	0.914
18	11981765	G	T	18	11981766	y	y	splicing	IMPA2(NM_014214:exon1:c.96+1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon1:c.96+1G>T;ENST00000590107:exon1:c.96+1G>T;ENST00000383376:exon1:c.96+1G>T;ENST00000590138:exon1:c.96+1G>T)	.	.	0.999993519952936	0.928
18	11981766	T	A	18	11981767	y	y	splicing	IMPA2(NM_014214:exon1:c.96+2T>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon1:c.96+2T>A;ENST00000590107:exon1:c.96+2T>A;ENST00000383376:exon1:c.96+2T>A;ENST00000590138:exon1:c.96+2T>A)	.	.	0.999993672935256	0.926
18	11981766	T	C	18	11981767	y	y	splicing	IMPA2(NM_014214:exon1:c.96+2T>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon1:c.96+2T>C;ENST00000590107:exon1:c.96+2T>C;ENST00000383376:exon1:c.96+2T>C;ENST00000590138:exon1:c.96+2T>C)	.	.	0.999959541454763	0.852
18	11981766	T	G	18	11981767	y	y	splicing	IMPA2(NM_014214:exon1:c.96+2T>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon1:c.96+2T>G;ENST00000590107:exon1:c.96+2T>G;ENST00000383376:exon1:c.96+2T>G;ENST00000590138:exon1:c.96+2T>G)	.	.	0.999993672935256	0.926
18	11981767	G	A	18	11981768	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.87879219301634E-4	0.002
18	11981767	G	C	18	11981768	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.392202034107932	0.702
18	11981767	G	T	18	11981768	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.898667227262016	0.672
18	11981768	A	C	18	11981769	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.969696979372717	0.682
18	11981768	A	G	18	11981769	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.985899004513246	0.7
18	11981768	A	T	18	11981769	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.997209087970801	0.802
18	11981769	G	A	18	11981770	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999000270194247	0.96
18	11981769	G	C	18	11981770	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.995571369229787	0.866
18	11981769	G	T	18	11981770	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.996240149579342	0.888
18	11981770	C	A	18	11981771	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.30368945383589E-4	0.026
18	11981770	C	G	18	11981771	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.72454748223552E-4	0.036
18	11981770	C	T	18	11981771	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.15617238803886E-4	0.004
18	11981771	G	A	18	11981772	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.0670753206699E-4	0.002
18	11981771	G	C	18	11981772	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.34050147365E-4	0.004
18	11981771	G	T	18	11981772	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.39494646622479E-4	0.002
18	11981772	C	A	18	11981773	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.85417114729422E-4	0.008
18	11981772	C	G	18	11981773	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	9.85652820770632E-4	0.01
18	11981772	C	T	18	11981773	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.85417114729422E-4	0.008
18	11999041	C	A	18	11999042	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0210985260240193	0.208
18	11999041	C	G	18	11999042	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999071066227028	0.942
18	11999041	C	T	18	11999042	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00338351528600838	0.078
18	11999042	T	A	18	11999043	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.892792409090288	0.524
18	11999042	T	C	18	11999043	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.68187262430787E-4	0.14
18	11999042	T	G	18	11999043	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.793599023931121	0.486
18	11999043	T	A	18	11999044	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.932568900578278	0.808
18	11999043	T	C	18	11999044	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00298146642598825	0.11
18	11999043	T	G	18	11999044	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.96693565331307	0.842
18	11999044	T	A	18	11999045	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0203333239866822	0.452
18	11999044	T	C	18	11999045	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.16111518109039E-4	0.008
18	11999044	T	G	18	11999045	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0187716181690673	0.442
18	11999045	T	A	18	11999046	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.013784602133325	0.202
18	11999045	T	C	18	11999046	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.25841451076524E-4	0.0
18	11999045	T	G	18	11999046	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00225410866947796	0.208
18	11999046	A	C	18	11999047	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.04251822172463E-4	0.002
18	11999046	A	G	18	11999047	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.20284611664557E-5	0.022
18	11999046	A	T	18	11999047	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	8.98274846322319E-5	0.0
18	11999047	T	A	18	11999048	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.565483491353297	0.524
18	11999047	T	C	18	11999048	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.65547345031702E-4	0.02
18	11999047	T	G	18	11999048	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999522958445868	0.97
18	11999048	T	A	18	11999049	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.990789307510203	0.852
18	11999048	T	C	18	11999049	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0814897443059227	0.274
18	11999048	T	G	18	11999049	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.990419289614319	0.876
18	11999049	T	A	18	11999050	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.6220197604101E-4	0.02
18	11999049	T	C	18	11999050	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.96175279815465E-4	0.058
18	11999049	T	G	18	11999050	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.51652125626297E-4	0.078
18	11999050	C	A	18	11999051	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.887209743138396	0.646
18	11999050	C	G	18	11999051	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999880991235053	0.954
18	11999050	C	T	18	11999051	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00644655637920449	0.058
18	11999051	A	C	18	11999052	y	y	splicing	IMPA2(NM_014214:exon2:c.97-2A>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.97-2A>C;ENST00000590107:exon2:c.97-2A>C;ENST00000383376:exon2:c.97-2A>C;ENST00000590138:exon2:c.97-2A>C)	.	.	0.999989917668626	0.928
18	11999051	A	G	18	11999052	y	y	splicing	IMPA2(NM_014214:exon2:c.97-2A>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.97-2A>G;ENST00000590107:exon2:c.97-2A>G;ENST00000383376:exon2:c.97-2A>G;ENST00000590138:exon2:c.97-2A>G)	.	.	0.999989917668626	0.928
18	11999051	A	T	18	11999052	y	y	splicing	IMPA2(NM_014214:exon2:c.97-2A>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.97-2A>T;ENST00000590107:exon2:c.97-2A>T;ENST00000383376:exon2:c.97-2A>T;ENST00000590138:exon2:c.97-2A>T)	.	.	0.999989917668626	0.928
18	11999052	G	A	18	11999053	y	y	splicing	IMPA2(NM_014214:exon2:c.97-1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.97-1G>A;ENST00000590107:exon2:c.97-1G>A;ENST00000383376:exon2:c.97-1G>A;ENST00000590138:exon2:c.97-1G>A)	.	.	0.999981760802075	0.938
18	11999052	G	C	18	11999053	y	y	splicing	IMPA2(NM_014214:exon2:c.97-1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.97-1G>C;ENST00000590107:exon2:c.97-1G>C;ENST00000383376:exon2:c.97-1G>C;ENST00000590138:exon2:c.97-1G>C)	.	.	0.999981760802075	0.938
18	11999052	G	T	18	11999053	y	y	splicing	IMPA2(NM_014214:exon2:c.97-1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.97-1G>T;ENST00000590107:exon2:c.97-1G>T;ENST00000383376:exon2:c.97-1G>T;ENST00000590138:exon2:c.97-1G>T)	.	.	0.999981760802075	0.938
18	11999053	A	C	18	11999054	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.A97C:p.I33L;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.A97C:p.I33L;ENSG00000141401:ENST00000383376:exon2:c.A97C:p.I33L;ENSG00000141401:ENST00000269159:exon2:c.A97C:p.I33L;ENSG00000141401:ENST00000590138:exon2:c.A97C:p.I33L;	0.0214430807923604	0.162
18	11999053	A	G	18	11999054	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.A97G:p.I33V;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.A97G:p.I33V;ENSG00000141401:ENST00000383376:exon2:c.A97G:p.I33V;ENSG00000141401:ENST00000269159:exon2:c.A97G:p.I33V;ENSG00000141401:ENST00000590138:exon2:c.A97G:p.I33V;	1.99669286085798E-4	0.016
18	11999053	A	T	18	11999054	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.A97T:p.I33F;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.A97T:p.I33F;ENSG00000141401:ENST00000383376:exon2:c.A97T:p.I33F;ENSG00000141401:ENST00000269159:exon2:c.A97T:p.I33F;ENSG00000141401:ENST00000590138:exon2:c.A97T:p.I33F;	0.293832934079342	0.534
18	11999054	T	A	18	11999055	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.T98A:p.I33N;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.T98A:p.I33N;ENSG00000141401:ENST00000383376:exon2:c.T98A:p.I33N;ENSG00000141401:ENST00000269159:exon2:c.T98A:p.I33N;ENSG00000141401:ENST00000590138:exon2:c.T98A:p.I33N;	0.107799913688052	0.398
18	11999054	T	C	18	11999055	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.T98C:p.I33T;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.T98C:p.I33T;ENSG00000141401:ENST00000383376:exon2:c.T98C:p.I33T;ENSG00000141401:ENST00000269159:exon2:c.T98C:p.I33T;ENSG00000141401:ENST00000590138:exon2:c.T98C:p.I33T;	0.1702635298896	0.428
18	11999054	T	G	18	11999055	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.T98G:p.I33S;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.T98G:p.I33S;ENSG00000141401:ENST00000383376:exon2:c.T98G:p.I33S;ENSG00000141401:ENST00000269159:exon2:c.T98G:p.I33S;ENSG00000141401:ENST00000590138:exon2:c.T98G:p.I33S;	0.109016509059361	0.512
18	11999184	C	A	18	11999185	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.C228A:p.H76Q;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.C228A:p.H76Q;ENSG00000141401:ENST00000383376:exon2:c.C228A:p.H76Q;ENSG00000141401:ENST00000269159:exon2:c.C228A:p.H76Q;ENSG00000141401:ENST00000590138:exon2:c.C228A:p.H76Q;	0.915739457310645	0.804
18	11999184	C	G	18	11999185	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.C228G:p.H76Q;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.C228G:p.H76Q;ENSG00000141401:ENST00000383376:exon2:c.C228G:p.H76Q;ENSG00000141401:ENST00000269159:exon2:c.C228G:p.H76Q;ENSG00000141401:ENST00000590138:exon2:c.C228G:p.H76Q;	0.866516233738282	0.584
18	11999184	C	T	18	11999185	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon2:c.C228T:p.H76H;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.C228T:p.H76H;ENSG00000141401:ENST00000383376:exon2:c.C228T:p.H76H;ENSG00000141401:ENST00000269159:exon2:c.C228T:p.H76H;ENSG00000141401:ENST00000590138:exon2:c.C228T:p.H76H;	0.739986556172519	0.654
18	11999185	A	C	18	11999186	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon2:c.A229C:p.R77R;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.A229C:p.R77R;ENSG00000141401:ENST00000383376:exon2:c.A229C:p.R77R;ENSG00000141401:ENST00000269159:exon2:c.A229C:p.R77R;ENSG00000141401:ENST00000590138:exon2:c.A229C:p.R77R;	0.993864285579478	0.968
18	11999185	A	G	18	11999186	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.A229G:p.R77G;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.A229G:p.R77G;ENSG00000141401:ENST00000383376:exon2:c.A229G:p.R77G;ENSG00000141401:ENST00000269159:exon2:c.A229G:p.R77G;ENSG00000141401:ENST00000590138:exon2:c.A229G:p.R77G;	0.9985641595053	0.976
18	11999185	A	T	18	11999186	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.A229T:p.R77W;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.A229T:p.R77W;ENSG00000141401:ENST00000383376:exon2:c.A229T:p.R77W;ENSG00000141401:ENST00000269159:exon2:c.A229T:p.R77W;ENSG00000141401:ENST00000590138:exon2:c.A229T:p.R77W;	0.999559859876536	0.982
18	11999186	G	A	18	11999187	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.G230A:p.R77K;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.G230A:p.R77K;ENSG00000141401:ENST00000383376:exon2:c.G230A:p.R77K;ENSG00000141401:ENST00000269159:exon2:c.G230A:p.R77K;ENSG00000141401:ENST00000590138:exon2:c.G230A:p.R77K;	0.916444529414668	0.66
18	11999186	G	C	18	11999187	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.G230C:p.R77T;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.G230C:p.R77T;ENSG00000141401:ENST00000383376:exon2:c.G230C:p.R77T;ENSG00000141401:ENST00000269159:exon2:c.G230C:p.R77T;ENSG00000141401:ENST00000590138:exon2:c.G230C:p.R77T;	0.999977283488243	0.996
18	11999186	G	T	18	11999187	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon2:c.G230T:p.R77M;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon2:c.G230T:p.R77M;ENSG00000141401:ENST00000383376:exon2:c.G230T:p.R77M;ENSG00000141401:ENST00000269159:exon2:c.G230T:p.R77M;ENSG00000141401:ENST00000590138:exon2:c.G230T:p.R77M;	0.999941605290889	0.99
18	11999187	G	A	18	11999188	y	y	splicing	IMPA2(NM_014214:exon2:c.230+1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.230+1G>A;ENST00000590107:exon2:c.230+1G>A;ENST00000383376:exon2:c.230+1G>A;ENST00000590138:exon2:c.230+1G>A)	.	.	0.999981760802075	0.936
18	11999187	G	C	18	11999188	y	y	splicing	IMPA2(NM_014214:exon2:c.230+1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.230+1G>C;ENST00000590107:exon2:c.230+1G>C;ENST00000383376:exon2:c.230+1G>C;ENST00000590138:exon2:c.230+1G>C)	.	.	0.999981760802075	0.936
18	11999187	G	T	18	11999188	y	y	splicing	IMPA2(NM_014214:exon2:c.230+1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.230+1G>T;ENST00000590107:exon2:c.230+1G>T;ENST00000383376:exon2:c.230+1G>T;ENST00000590138:exon2:c.230+1G>T)	.	.	0.999981760802075	0.936
18	11999188	T	A	18	11999189	y	y	splicing	IMPA2(NM_014214:exon2:c.230+2T>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.230+2T>A;ENST00000590107:exon2:c.230+2T>A;ENST00000383376:exon2:c.230+2T>A;ENST00000590138:exon2:c.230+2T>A)	.	.	0.999986903042585	0.924
18	11999188	T	C	18	11999189	y	y	splicing	IMPA2(NM_014214:exon2:c.230+2T>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.230+2T>C;ENST00000590107:exon2:c.230+2T>C;ENST00000383376:exon2:c.230+2T>C;ENST00000590138:exon2:c.230+2T>C)	.	.	0.996340655833421	0.64
18	11999188	T	G	18	11999189	y	y	splicing	IMPA2(NM_014214:exon2:c.230+2T>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon2:c.230+2T>G;ENST00000590107:exon2:c.230+2T>G;ENST00000383376:exon2:c.230+2T>G;ENST00000590138:exon2:c.230+2T>G)	.	.	0.999986903042585	0.926
18	11999189	A	C	18	11999190	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.100312692854019	0.34
18	11999189	A	G	18	11999190	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00114601157858059	0.074
18	11999189	A	T	18	11999190	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0639167718294881	0.408
18	11999190	G	A	18	11999191	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.13693519029975E-4	0.02
18	11999190	G	C	18	11999191	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.27123061270047E-5	0.01
18	11999190	G	T	18	11999191	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	9.2040365341408E-5	0.008
18	11999191	G	A	18	11999192	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.965683895215037	0.69
18	11999191	G	C	18	11999192	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.993492603922501	0.782
18	11999191	G	T	18	11999192	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.997242630367712	0.808
18	11999192	T	A	18	11999193	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.62253391766699E-4	0.038
18	11999192	T	C	18	11999193	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	8.50802904952376E-4	0.064
18	11999192	T	G	18	11999193	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	9.03531499542739E-5	0.028
18	11999193	G	A	18	11999194	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0018230488955345	0.034
18	11999193	G	C	18	11999194	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00136303335809829	0.014
18	11999193	G	T	18	11999194	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.53874504312358E-4	0.02
18	11999194	T	A	18	11999195	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.33141600191487E-5	0.0
18	11999194	T	C	18	11999195	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.07256548728156E-5	0.0
18	11999194	T	G	18	11999195	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.63386902974576E-4	0.002
18	12008320	T	A	18	12008321	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.32880881212684E-4	0.024
18	12008320	T	C	18	12008321	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.026
18	12008320	T	G	18	12008321	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.026
18	12008321	A	C	18	12008322	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.80109675654916E-5	0.0
18	12008321	A	G	18	12008322	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.80109675654916E-5	0.0
18	12008321	A	T	18	12008322	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.80109675654916E-5	0.0
18	12008322	C	A	18	12008323	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.6857887130806E-5	0.004
18	12008322	C	G	18	12008323	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.6857887130806E-5	0.004
18	12008322	C	T	18	12008323	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.6857887130806E-5	0.004
18	12008323	T	A	18	12008324	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.80109675654916E-5	0.0
18	12008323	T	C	18	12008324	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.80109675654916E-5	0.0
18	12008323	T	G	18	12008324	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.80109675654916E-5	0.0
18	12008324	C	A	18	12008325	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.10275622159801E-5	0.0
18	12008324	C	G	18	12008325	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.10275622159801E-5	0.0
18	12008324	C	T	18	12008325	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.10275622159801E-5	0.0
18	12008325	T	A	18	12008326	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.91125889811943E-5	0.008
18	12008325	T	C	18	12008326	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.91125889811943E-5	0.008
18	12008325	T	G	18	12008326	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.91125889811943E-5	0.006
18	12008326	C	A	18	12008327	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.1548255067557E-5	0.0
18	12008326	C	G	18	12008327	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.39502748842236E-5	0.0
18	12008326	C	T	18	12008327	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.1548255067557E-5	0.0
18	12008327	T	A	18	12008328	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.67272766448078E-5	0.01
18	12008327	T	C	18	12008328	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.91125889811943E-5	0.006
18	12008327	T	G	18	12008328	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.91125889811943E-5	0.006
18	12008328	G	A	18	12008329	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	8.53742906592743E-5	0.002
18	12008328	G	C	18	12008329	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.79815302939872E-5	0.0
18	12008328	G	T	18	12008329	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.09828708177445E-5	0.0
18	12008329	C	A	18	12008330	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.09828708177445E-5	0.0
18	12008329	C	G	18	12008330	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.79815302939872E-5	0.0
18	12008329	C	T	18	12008330	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.09828708177445E-5	0.0
18	12008330	A	C	18	12008331	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.231-2A>C)	.	.	3.80109675654916E-5	0.0
18	12008330	A	G	18	12008331	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.231-2A>G)	.	.	3.80109675654916E-5	0.0
18	12008330	A	T	18	12008331	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.231-2A>T)	.	.	6.90866578596279E-5	0.0
18	12008331	G	A	18	12008332	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.231-1G>A)	.	.	3.35115461238441E-4	0.0
18	12008331	G	C	18	12008332	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.231-1G>C)	.	.	3.35115461238441E-4	0.0
18	12008331	G	T	18	12008332	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.231-1G>T)	.	.	3.35115461238441E-4	0.0
18	12008332	G	A	18	12008333	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000383376:exon3:c.G231A:p.R77R;	4.6857887130806E-5	0.034
18	12008332	G	C	18	12008333	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000383376:exon3:c.G231C:p.R77S;	1.07666937207817E-4	0.028
18	12008332	G	T	18	12008333	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000383376:exon3:c.G231T:p.R77S;	9.76765392707873E-5	0.028
18	12008333	T	A	18	12008334	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000383376:exon3:c.T232A:p.S78T;	8.49702646665041E-5	0.004
18	12008333	T	C	18	12008334	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000383376:exon3:c.T232C:p.S78P;	7.01315188657279E-5	0.0
18	12008333	T	G	18	12008334	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000383376:exon3:c.T232G:p.S78A;	2.45277156108894E-5	0.0
18	12008588	A	C	18	12008589	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	2.41256482875619E-5	0.004
18	12008588	A	G	18	12008589	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	2.41256482875619E-5	0.002
18	12008588	A	T	18	12008589	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	2.74891647094722E-5	0.004
18	12008589	A	C	18	12008590	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	1.48367148474546E-5	0.004
18	12008589	A	G	18	12008590	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	1.48367148474546E-5	0.004
18	12008589	A	T	18	12008590	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	3.52173701430229E-5	0.006
18	12008590	G	A	18	12008591	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	4.81456590373184E-4	0.05
18	12008590	G	C	18	12008591	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	2.02885091851015E-4	0.046
18	12008590	G	T	18	12008591	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	2.02885091851015E-4	0.048
18	12008591	G	A	18	12008592	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.489+1G>A)	.	.	3.14923178591806E-4	0.01
18	12008591	G	C	18	12008592	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.489+1G>C)	.	.	1.73287564149803E-4	0.016
18	12008591	G	T	18	12008592	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.489+1G>T)	.	.	1.73287564149803E-4	0.016
18	12008592	T	A	18	12008593	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.489+2T>A)	.	.	8.24652302699114E-5	0.006
18	12008592	T	C	18	12008593	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.489+2T>C)	.	.	1.90450515699839E-5	0.0
18	12008592	T	G	18	12008593	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon3:c.489+2T>G)	.	.	1.90450515699839E-5	0.0
18	12008593	G	A	18	12008594	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.46004206284423E-5	0.0
18	12008593	G	C	18	12008594	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.46004206284423E-5	0.0
18	12008593	G	T	18	12008594	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.46004206284423E-5	0.0
18	12008594	G	A	18	12008595	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.2694790039333E-6	0.0
18	12008594	G	C	18	12008595	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.2694790039333E-6	0.0
18	12008594	G	T	18	12008595	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.2694790039333E-6	0.0
18	12008595	G	A	18	12008596	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.99153316237132E-5	0.0
18	12008595	G	C	18	12008596	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.99153316237132E-5	0.0
18	12008595	G	T	18	12008596	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.99153316237132E-5	0.0
18	12008596	C	A	18	12008597	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.2694790039333E-6	0.0
18	12008596	C	G	18	12008597	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.2694790039333E-6	0.0
18	12008596	C	T	18	12008597	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.2694790039333E-6	0.0
18	12008597	T	A	18	12008598	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.18514214212084E-4	0.116
18	12008597	T	C	18	12008598	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.18514214212084E-4	0.082
18	12008597	T	G	18	12008598	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.18514214212084E-4	0.082
18	12008598	G	A	18	12008599	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.02885091851015E-4	0.046
18	12008598	G	C	18	12008599	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.02885091851015E-4	0.046
18	12008598	G	T	18	12008599	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.02885091851015E-4	0.046
18	12009870	C	A	18	12009871	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0175155591329339	0.168
18	12009870	C	G	18	12009871	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00490695895733675	0.128
18	12009870	C	T	18	12009871	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.18717424708442E-4	0.002
18	12009871	T	A	18	12009872	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0124359396189773	0.214
18	12009871	T	C	18	12009872	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00306277077921073	0.102
18	12009871	T	G	18	12009872	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00564845650703909	0.214
18	12009872	T	A	18	12009873	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0286646423744441	0.092
18	12009872	T	C	18	12009873	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.813394589424E-4	0.018
18	12009872	T	G	18	12009873	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0085648945588029	0.128
18	12009873	C	A	18	12009874	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.155614014080395	0.308
18	12009873	C	G	18	12009874	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0657826164954438	0.248
18	12009873	C	T	18	12009874	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00128678338815391	0.01
18	12009874	C	A	18	12009875	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0108304850580751	0.104
18	12009874	C	G	18	12009875	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00999012224319529	0.182
18	12009874	C	T	18	12009875	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.65115800650618E-4	0.006
18	12009875	A	C	18	12009876	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.04354701159838E-4	0.01
18	12009875	A	G	18	12009876	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.30730589178015E-4	0.0
18	12009875	A	T	18	12009876	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.31633664923332E-4	0.012
18	12009876	C	A	18	12009877	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0135398579792563	0.124
18	12009876	C	G	18	12009877	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999754752980556	0.95
18	12009876	C	T	18	12009877	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.52384370193067E-4	0.004
18	12009877	T	A	18	12009878	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.996798213908623	0.906
18	12009877	T	C	18	12009878	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.17698849796361E-4	0.014
18	12009877	T	G	18	12009878	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00494416257067978	0.212
18	12009878	G	A	18	12009879	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.27590960611984E-5	0.0
18	12009878	G	C	18	12009879	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.94496249339606E-5	0.008
18	12009878	G	T	18	12009879	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.49218586110481E-5	0.0
18	12009879	C	A	18	12009880	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.997723009629977	0.808
18	12009879	C	G	18	12009880	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999904120917271	0.926
18	12009879	C	T	18	12009880	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.100748384603577	0.164
18	12009880	A	C	18	12009881	y	y	splicing	IMPA2(NM_014214:exon3:c.231-2A>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.231-2A>C;ENST00000590107:exon3:c.231-2A>C;ENST00000383376:exon4:c.490-2A>C;ENST00000590138:exon3:c.231-2A>C)	.	.	0.999992446697775	0.926
18	12009880	A	G	18	12009881	y	y	splicing	IMPA2(NM_014214:exon3:c.231-2A>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.231-2A>G;ENST00000590107:exon3:c.231-2A>G;ENST00000383376:exon4:c.490-2A>G;ENST00000590138:exon3:c.231-2A>G)	.	.	0.999992446697775	0.926
18	12009880	A	T	18	12009881	y	y	splicing	IMPA2(NM_014214:exon3:c.231-2A>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.231-2A>T;ENST00000590107:exon3:c.231-2A>T;ENST00000383376:exon4:c.490-2A>T;ENST00000590138:exon3:c.231-2A>T)	.	.	0.999992446697775	0.926
18	12009881	G	A	18	12009882	y	y	splicing	IMPA2(NM_014214:exon3:c.231-1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.231-1G>A;ENST00000590107:exon3:c.231-1G>A;ENST00000383376:exon4:c.490-1G>A;ENST00000590138:exon3:c.231-1G>A)	.	.	0.999988247793601	0.924
18	12009881	G	C	18	12009882	y	y	splicing	IMPA2(NM_014214:exon3:c.231-1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.231-1G>C;ENST00000590107:exon3:c.231-1G>C;ENST00000383376:exon4:c.490-1G>C;ENST00000590138:exon3:c.231-1G>C)	.	.	0.999988247793601	0.924
18	12009881	G	T	18	12009882	y	y	splicing	IMPA2(NM_014214:exon3:c.231-1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.231-1G>T;ENST00000590107:exon3:c.231-1G>T;ENST00000383376:exon4:c.490-1G>T;ENST00000590138:exon3:c.231-1G>T)	.	.	0.999988247793601	0.924
18	12009882	G	A	18	12009883	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon3:c.G231A:p.R77R;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.G231A:p.R77R;ENSG00000141401:ENST00000269159:exon3:c.G231A:p.R77R;ENSG00000141401:ENST00000590138:exon3:c.G231A:p.R77R;	0.749916120202541	0.602
18	12009882	G	C	18	12009883	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.G231C:p.R77S;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.G231C:p.R77S;ENSG00000141401:ENST00000269159:exon3:c.G231C:p.R77S;ENSG00000141401:ENST00000590138:exon3:c.G231C:p.R77S;	0.990411158002129	0.876
18	12009882	G	T	18	12009883	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.G231T:p.R77S;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.G231T:p.R77S;ENSG00000141401:ENST00000269159:exon3:c.G231T:p.R77S;ENSG00000141401:ENST00000590138:exon3:c.G231T:p.R77S;	0.99168732245056	0.904
18	12009883	T	A	18	12009884	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.T232A:p.F78I;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.T232A:p.F78I;ENSG00000141401:ENST00000269159:exon3:c.T232A:p.F78I;ENSG00000141401:ENST00000590138:exon3:c.T232A:p.F78I;	0.410948208251612	0.434
18	12009883	T	C	18	12009884	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.T232C:p.F78L;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.T232C:p.F78L;ENSG00000141401:ENST00000269159:exon3:c.T232C:p.F78L;ENSG00000141401:ENST00000590138:exon3:c.T232C:p.F78L;	0.405669220518995	0.458
18	12009883	T	G	18	12009884	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.T232G:p.F78V;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.T232G:p.F78V;ENSG00000141401:ENST00000269159:exon3:c.T232G:p.F78V;ENSG00000141401:ENST00000590138:exon3:c.T232G:p.F78V;	0.396821438993897	0.47
18	12009984	C	A	18	12009985	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.C333A:p.H111Q;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.C333A:p.H111Q;ENSG00000141401:ENST00000269159:exon3:c.C333A:p.H111Q;ENSG00000141401:ENST00000590138:exon3:c.C333A:p.H111Q;	0.0484783853568757	0.456
18	12009984	C	G	18	12009985	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.C333G:p.H111Q;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.C333G:p.H111Q;ENSG00000141401:ENST00000269159:exon3:c.C333G:p.H111Q;ENSG00000141401:ENST00000590138:exon3:c.C333G:p.H111Q;	0.017337417959523	0.236
18	12009984	C	T	18	12009985	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon3:c.C333T:p.H111H;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.C333T:p.H111H;ENSG00000141401:ENST00000269159:exon3:c.C333T:p.H111H;ENSG00000141401:ENST00000590138:exon3:c.C333T:p.H111H;	0.533082949898212	0.39
18	12009985	A	C	18	12009986	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon3:c.A334C:p.R112R;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590138:exon3:c.A334C:p.S112R;	0.815088883432991	0.616
18	12009985	A	G	18	12009986	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.A334G:p.R112G;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.A334G:p.R112G;ENSG00000141401:ENST00000269159:exon3:c.A334G:p.R112G;ENSG00000141401:ENST00000590138:exon3:c.A334G:p.S112G;	0.675635221591667	0.494
18	12009985	A	T	18	12009986	y	y	exonic	IMPA2	stopgain SNV	IMPA2:NM_014214:exon3:c.A334T:p.R112X;	exonic	ENSG00000141401	stopgain SNV	ENSG00000141401:ENST00000590107:exon3:c.A334T:p.R112X;ENSG00000141401:ENST00000269159:exon3:c.A334T:p.R112X;	0.999374249625267	0.966
18	12009986	G	A	18	12009987	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.G335A:p.R112K;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.G335A:p.R112K;ENSG00000141401:ENST00000269159:exon3:c.G335A:p.R112K;ENSG00000141401:ENST00000590138:exon3:c.G335A:p.S112N;	0.999931463353557	0.984
18	12009986	G	C	18	12009987	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.G335C:p.R112T;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.G335C:p.R112T;ENSG00000141401:ENST00000269159:exon3:c.G335C:p.R112T;ENSG00000141401:ENST00000590138:exon3:c.G335C:p.S112T;	0.999974668936294	0.992
18	12009986	G	T	18	12009987	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon3:c.G335T:p.R112I;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon3:c.G335T:p.R112I;ENSG00000141401:ENST00000269159:exon3:c.G335T:p.R112I;ENSG00000141401:ENST00000590138:exon3:c.G335T:p.S112I;	0.999906078069372	0.998
18	12009987	G	A	18	12009988	y	y	splicing	IMPA2(NM_014214:exon3:c.335+1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.335+1G>A;ENST00000590107:exon3:c.335+1G>A;ENST00000383376:exon4:c.594+1G>A;ENST00000590138:exon3:c.335+1G>A;ENST00000586230:exon1:c.57+1G>A)	.	.	0.999988247793601	0.926
18	12009987	G	C	18	12009988	y	y	splicing	IMPA2(NM_014214:exon3:c.335+1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.335+1G>C;ENST00000590107:exon3:c.335+1G>C;ENST00000383376:exon4:c.594+1G>C;ENST00000590138:exon3:c.335+1G>C;ENST00000586230:exon1:c.57+1G>C)	.	.	0.999988247793601	0.926
18	12009987	G	T	18	12009988	y	y	splicing	IMPA2(NM_014214:exon3:c.335+1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.335+1G>T;ENST00000590107:exon3:c.335+1G>T;ENST00000383376:exon4:c.594+1G>T;ENST00000590138:exon3:c.335+1G>T;ENST00000586230:exon1:c.57+1G>T)	.	.	0.999988247793601	0.926
18	12009988	T	A	18	12009989	y	y	splicing	IMPA2(NM_014214:exon3:c.335+2T>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.335+2T>A;ENST00000590107:exon3:c.335+2T>A;ENST00000383376:exon4:c.594+2T>A;ENST00000590138:exon3:c.335+2T>A;ENST00000586230:exon1:c.57+2T>A)	.	.	0.999986472513537	0.924
18	12009988	T	C	18	12009989	y	y	splicing	IMPA2(NM_014214:exon3:c.335+2T>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.335+2T>C;ENST00000590107:exon3:c.335+2T>C;ENST00000383376:exon4:c.594+2T>C;ENST00000590138:exon3:c.335+2T>C;ENST00000586230:exon1:c.57+2T>C)	.	.	0.999720584345666	0.852
18	12009988	T	G	18	12009989	y	y	splicing	IMPA2(NM_014214:exon3:c.335+2T>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon3:c.335+2T>G;ENST00000590107:exon3:c.335+2T>G;ENST00000383376:exon4:c.594+2T>G;ENST00000590138:exon3:c.335+2T>G;ENST00000586230:exon1:c.57+2T>G)	.	.	0.99996509239462	0.924
18	12009989	G	A	18	12009990	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.7425295466043E-6	0.0
18	12009989	G	C	18	12009990	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.029013385363652	0.264
18	12009989	G	T	18	12009990	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.259369531930715	0.344
18	12009990	A	C	18	12009991	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.120802544934234	0.37
18	12009990	A	G	18	12009991	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.144608302366042	0.402
18	12009990	A	T	18	12009991	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.309407737900953	0.428
18	12009991	G	A	18	12009992	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.993444890325667	0.86
18	12009991	G	C	18	12009992	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.983124091060124	0.642
18	12009991	G	T	18	12009992	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.998729472456503	0.856
18	12009992	C	A	18	12009993	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.9025811046567E-4	0.03
18	12009992	C	G	18	12009993	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.60569137590117E-4	0.034
18	12009992	C	T	18	12009993	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.58265775619805E-4	0.01
18	12009993	T	A	18	12009994	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.95416100750369E-5	0.0
18	12009993	T	C	18	12009994	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.81104709051921E-5	0.0
18	12009993	T	G	18	12009994	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.81104709051921E-5	0.0
18	12009994	G	A	18	12009995	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.3812514482184E-5	0.0
18	12009994	G	C	18	12009995	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.21224239521005E-5	0.0
18	12009994	G	T	18	12009995	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.77221969403824E-5	0.0
18	12012157	T	A	18	12012158	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.13566530348356E-5	0.038
18	12012157	T	C	18	12012158	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.31658412130407E-5	0.0
18	12012157	T	G	18	12012158	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93789160525069E-5	0.008
18	12012158	T	A	18	12012159	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.07468565218146E-4	0.116
18	12012158	T	C	18	12012159	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.61794482875244E-4	0.014
18	12012158	T	G	18	12012159	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.76912388695782E-4	0.102
18	12012159	T	A	18	12012160	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.9767861924555E-4	0.03
18	12012159	T	C	18	12012160	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.15958023513985E-4	0.002
18	12012159	T	G	18	12012160	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.27343975262893E-4	0.04
18	12012160	C	A	18	12012161	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.07123922425352E-5	0.046
18	12012160	C	G	18	12012161	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.74487290739775E-5	0.03
18	12012160	C	T	18	12012161	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.81405160452441E-5	0.012
18	12012161	C	A	18	12012162	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.81785027910543E-4	0.056
18	12012161	C	G	18	12012162	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.36066946106762E-4	0.138
18	12012161	C	T	18	12012162	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.46943799814999E-5	0.002
18	12012162	T	A	18	12012163	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.57953637899902E-5	0.036
18	12012162	T	C	18	12012163	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.70945315100526E-5	0.0
18	12012162	T	G	18	12012163	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.4270025155462E-5	0.05
18	12012163	T	A	18	12012164	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.55643310872093E-4	0.116
18	12012163	T	C	18	12012164	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.04621048703221E-4	0.0
18	12012163	T	G	18	12012164	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.05931656442656E-4	0.046
18	12012164	T	A	18	12012165	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.978733143771644	0.714
18	12012164	T	C	18	12012165	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.60941782412208E-5	0.014
18	12012164	T	G	18	12012165	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.03241199418124E-4	0.086
18	12012165	G	A	18	12012166	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.41174802904744E-5	0.0
18	12012165	G	C	18	12012166	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04247354844875E-5	0.002
18	12012165	G	T	18	12012166	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.24558403055701E-5	0.02
18	12012166	C	A	18	12012167	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.300551901296912	0.468
18	12012166	C	G	18	12012167	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.993587038426943	0.848
18	12012166	C	T	18	12012167	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0877387119634668	0.396
18	12012167	A	C	18	12012168	y	y	splicing	IMPA2(NM_014214:exon4:c.336-2A>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon4:c.336-2A>C;ENST00000590107:exon4:c.336-2A>C;ENST00000383376:exon5:c.595-2A>C;ENST00000586230:exon2:c.58-2A>C)	.	.	0.999946188727699	0.948
18	12012167	A	G	18	12012168	y	y	splicing	IMPA2(NM_014214:exon4:c.336-2A>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon4:c.336-2A>G;ENST00000590107:exon4:c.336-2A>G;ENST00000383376:exon5:c.595-2A>G;ENST00000586230:exon2:c.58-2A>G)	.	.	0.999946188727699	0.946
18	12012167	A	T	18	12012168	y	y	splicing	IMPA2(NM_014214:exon4:c.336-2A>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon4:c.336-2A>T;ENST00000590107:exon4:c.336-2A>T;ENST00000383376:exon5:c.595-2A>T;ENST00000586230:exon2:c.58-2A>T)	.	.	0.99994568797423	0.948
18	12012168	G	A	18	12012169	y	y	splicing	IMPA2(NM_014214:exon4:c.336-1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon4:c.336-1G>A;ENST00000590107:exon4:c.336-1G>A;ENST00000383376:exon5:c.595-1G>A;ENST00000586230:exon2:c.58-1G>A)	.	.	0.99995545544995	0.948
18	12012168	G	C	18	12012169	y	y	splicing	IMPA2(NM_014214:exon4:c.336-1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon4:c.336-1G>C;ENST00000590107:exon4:c.336-1G>C;ENST00000383376:exon5:c.595-1G>C;ENST00000586230:exon2:c.58-1G>C)	.	.	0.99995586615188	0.948
18	12012168	G	T	18	12012169	y	y	splicing	IMPA2(NM_014214:exon4:c.336-1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon4:c.336-1G>T;ENST00000590107:exon4:c.336-1G>T;ENST00000383376:exon5:c.595-1G>T;ENST00000586230:exon2:c.58-1G>T)	.	.	0.99995545544995	0.948
18	12012169	A	C	18	12012170	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.A336C:p.R112S;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.A336C:p.R112S;ENSG00000141401:ENST00000269159:exon4:c.A336C:p.R112S;	3.62147231652089E-5	0.01
18	12012169	A	G	18	12012170	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon4:c.A336G:p.R112R;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.A336G:p.R112R;ENSG00000141401:ENST00000269159:exon4:c.A336G:p.R112R;	2.80248286061925E-5	0.0
18	12012169	A	T	18	12012170	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.A336T:p.R112S;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.A336T:p.R112S;ENSG00000141401:ENST00000269159:exon4:c.A336T:p.R112S;	6.83998872477064E-5	0.002
18	12012170	T	A	18	12012171	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.T337A:p.F113I;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T337A:p.F113I;ENSG00000141401:ENST00000269159:exon4:c.T337A:p.F113I;	0.318408636498939	0.458
18	12012170	T	C	18	12012171	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.T337C:p.F113L;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T337C:p.F113L;ENSG00000141401:ENST00000269159:exon4:c.T337C:p.F113L;	0.412281751159314	0.452
18	12012170	T	G	18	12012171	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.T337G:p.F113V;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T337G:p.F113V;ENSG00000141401:ENST00000269159:exon4:c.T337G:p.F113V;	0.394613203795778	0.468
18	12012212	G	A	18	12012213	y	n	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.G379A:p.E127K;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G379A:p.E127K;ENSG00000141401:ENST00000269159:exon4:c.G379A:p.E127K;	0.00158335029795249	0.066
18	12012212	G	C	18	12012213	y	n	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.G379C:p.E127Q;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G379C:p.E127Q;ENSG00000141401:ENST00000269159:exon4:c.G379C:p.E127Q;	0.00108629043834131	0.07
18	12012212	G	T	18	12012213	y	n	exonic	IMPA2	stopgain SNV	IMPA2:NM_014214:exon4:c.G379T:p.E127X;	exonic	ENSG00000141401	stopgain SNV	ENSG00000141401:ENST00000590107:exon4:c.G379T:p.E127X;ENSG00000141401:ENST00000269159:exon4:c.G379T:p.E127X;	0.988579789443166	0.846
18	12012213	A	C	18	12012214	y	n	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.A380C:p.E127A;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.A380C:p.E127A;ENSG00000141401:ENST00000269159:exon4:c.A380C:p.E127A;	0.998020457510972	0.924
18	12012213	A	G	18	12012214	y	n	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.A380G:p.E127G;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.A380G:p.E127G;ENSG00000141401:ENST00000269159:exon4:c.A380G:p.E127G;	0.999851942366508	0.982
18	12012213	A	T	18	12012214	y	n	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.A380T:p.E127V;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.A380T:p.E127V;ENSG00000141401:ENST00000269159:exon4:c.A380T:p.E127V;	0.999730942200906	0.982
18	12012214	G	A	18	12012215	y	n	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon4:c.G381A:p.E127E;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G381A:p.E127E;ENSG00000141401:ENST00000269159:exon4:c.G381A:p.E127E;	0.99998462579499	0.998
18	12012214	G	C	18	12012215	y	n	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.G381C:p.E127D;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G381C:p.E127D;ENSG00000141401:ENST00000269159:exon4:c.G381C:p.E127D;	0.99999420331475	0.99
18	12012214	G	T	18	12012215	y	n	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon4:c.G381T:p.E127D;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G381T:p.E127D;ENSG00000141401:ENST00000269159:exon4:c.G381T:p.E127D;	0.99998145890812	0.994
18	12012215	G	A	18	12012216	y	n	splicing	IMPA2(NM_014214:exon4:c.381+1G>A)	.	.	exonic;splicing	ENSG00000141401;ENSG00000141401(ENST00000269159:exon4:c.381+1G>A;ENST00000383376:exon5:c.640+1G>A;ENST00000586230:exon2:c.103+1G>A)	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G382A:p.V128M;	0.999985532734767	0.952
18	12012215	G	C	18	12012216	y	n	splicing	IMPA2(NM_014214:exon4:c.381+1G>C)	.	.	exonic;splicing	ENSG00000141401;ENSG00000141401(ENST00000269159:exon4:c.381+1G>C;ENST00000383376:exon5:c.640+1G>C;ENST00000586230:exon2:c.103+1G>C)	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G382C:p.V128L;	0.999985532734767	0.952
18	12012215	G	T	18	12012216	y	n	splicing	IMPA2(NM_014214:exon4:c.381+1G>T)	.	.	exonic;splicing	ENSG00000141401;ENSG00000141401(ENST00000269159:exon4:c.381+1G>T;ENST00000383376:exon5:c.640+1G>T;ENST00000586230:exon2:c.103+1G>T)	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G382T:p.V128L;	0.999985532734767	0.952
18	12012216	T	A	18	12012217	y	n	splicing	IMPA2(NM_014214:exon4:c.381+2T>A)	.	.	exonic;splicing	ENSG00000141401;ENSG00000141401(ENST00000269159:exon4:c.381+2T>A;ENST00000383376:exon5:c.640+2T>A;ENST00000586230:exon2:c.103+2T>A)	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T383A:p.V128E;	0.999988247793601	0.954
18	12012216	T	C	18	12012217	y	n	splicing	IMPA2(NM_014214:exon4:c.381+2T>C)	.	.	exonic;splicing	ENSG00000141401;ENSG00000141401(ENST00000269159:exon4:c.381+2T>C;ENST00000383376:exon5:c.640+2T>C;ENST00000586230:exon2:c.103+2T>C)	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T383C:p.V128A;	0.999943260809542	0.892
18	12012216	T	G	18	12012217	y	n	splicing	IMPA2(NM_014214:exon4:c.381+2T>G)	.	.	exonic;splicing	ENSG00000141401;ENSG00000141401(ENST00000269159:exon4:c.381+2T>G;ENST00000383376:exon5:c.640+2T>G;ENST00000586230:exon2:c.103+2T>G)	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T383G:p.V128G;	0.999988247793601	0.954
18	12012217	G	A	18	12012218	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G384A:p.V128V;	6.99493084602116E-6	0.0
18	12012217	G	C	18	12012218	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G384C:p.V128V;	0.775932348061829	0.516
18	12012217	G	T	18	12012218	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G384T:p.V128V;	0.505534140042875	0.432
18	12012218	C	A	18	12012219	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.C385A:p.R129R;	5.22196807761423E-5	0.002
18	12012218	C	G	18	12012219	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.C385G:p.R129G;	3.92393532381941E-4	0.046
18	12012218	C	T	18	12012219	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.C385T:p.R129W;	0.00194370007742077	0.032
18	12012219	G	A	18	12012220	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G386A:p.R129Q;	0.999373651895384	0.706
18	12012219	G	C	18	12012220	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G386C:p.R129P;	0.999008310541242	0.646
18	12012219	G	T	18	12012220	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G386T:p.R129L;	0.998291564046496	0.67
18	12012220	G	A	18	12012221	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G387A:p.R129R;	1.04745412275596E-4	0.128
18	12012220	G	C	18	12012221	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G387C:p.R129R;	2.74323358016634E-5	0.028
18	12012220	G	T	18	12012221	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G387T:p.R129R;	1.50366419728044E-5	0.0
18	12012221	G	A	18	12012222	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G388A:p.V130M;	2.2892136181188E-4	0.01
18	12012221	G	C	18	12012222	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G388C:p.V130L;	2.01441609049165E-4	0.0
18	12012221	G	T	18	12012222	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.G388T:p.V130L;	1.29833549406656E-4	0.008
18	12012222	T	A	18	12012223	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T389A:p.V130E;	8.1951649367366E-5	0.0
18	12012222	T	C	18	12012223	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T389C:p.V130A;	5.23306658812244E-5	0.0
18	12012222	T	G	18	12012223	y	n	intronic	IMPA2	.	.	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000590107:exon4:c.T389G:p.V130G;	8.41947467718083E-5	0.0
18	12012346	C	A	18	12012347	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	3.78864525412067E-5	0.002
18	12012346	C	G	18	12012347	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	3.78864525412067E-5	0.002
18	12012346	C	T	18	12012347	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	3.78864525412067E-5	0.002
18	12012347	C	A	18	12012348	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	7.52881759733747E-5	0.0
18	12012347	C	G	18	12012348	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	7.52881759733747E-5	0.0
18	12012347	C	T	18	12012348	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	8.30945796578933E-5	0.0
18	12012348	T	A	18	12012349	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	9.33760749665166E-4	0.024
18	12012348	T	C	18	12012349	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	6.638143005253E-4	0.024
18	12012348	T	G	18	12012349	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	6.638143005253E-4	0.024
18	12012349	G	A	18	12012350	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000590107:exon4:c.515+1G>A)	.	.	2.72841159385093E-5	0.0
18	12012349	G	C	18	12012350	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000590107:exon4:c.515+1G>C)	.	.	2.72841159385093E-5	0.0
18	12012349	G	T	18	12012350	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000590107:exon4:c.515+1G>T)	.	.	2.72841159385093E-5	0.0
18	12012350	T	A	18	12012351	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000590107:exon4:c.515+2T>A)	.	.	1.86879639678869E-4	0.002
18	12012350	T	C	18	12012351	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000590107:exon4:c.515+2T>C)	.	.	1.38511446188456E-4	0.002
18	12012350	T	G	18	12012351	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000590107:exon4:c.515+2T>G)	.	.	1.38511446188456E-4	0.002
18	12012351	G	A	18	12012352	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.27477746119029E-5	0.0
18	12012351	G	C	18	12012352	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.69930370103191E-5	0.0
18	12012351	G	T	18	12012352	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.31689052743192E-5	0.0
18	12012352	G	A	18	12012353	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.24453633365032E-5	0.0
18	12012352	G	C	18	12012353	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.5364181533214E-5	0.0
18	12012352	G	T	18	12012353	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.5364181533214E-5	0.0
18	12012353	G	A	18	12012354	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93008933363103E-5	0.0
18	12012353	G	C	18	12012354	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.82827935381688E-5	0.0
18	12012353	G	T	18	12012354	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93008933363103E-5	0.0
18	12012354	T	A	18	12012355	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.3271890069336E-4	0.018
18	12012354	T	C	18	12012355	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.74263047865614E-4	0.002
18	12012354	T	G	18	12012355	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.74263047865614E-4	0.002
18	12012355	T	A	18	12012356	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.88901258699267E-5	0.004
18	12012355	T	C	18	12012356	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.88901258699267E-5	0.004
18	12012355	T	G	18	12012356	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.88901258699267E-5	0.004
18	12012356	T	A	18	12012357	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93008933363103E-5	0.002
18	12012356	T	C	18	12012357	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93008933363103E-5	0.002
18	12012356	T	G	18	12012357	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.93008933363103E-5	0.002
18	12014252	T	A	18	12014253	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999981382283143	0.988
18	12014252	T	C	18	12014253	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00511581551144654	0.202
18	12014252	T	G	18	12014253	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.305528543658086	0.492
18	12014253	G	A	18	12014254	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	8.17756230031587E-4	0.07
18	12014253	G	C	18	12014254	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.43664421384002E-4	0.008
18	12014253	G	T	18	12014254	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.06451718236707E-4	0.012
18	12014254	C	A	18	12014255	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.74889836223412E-4	0.044
18	12014254	C	G	18	12014255	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.66412280343796E-4	0.062
18	12014254	C	T	18	12014255	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.71869413685155E-5	0.0
18	12014255	C	A	18	12014256	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.990724336505522	0.79
18	12014255	C	G	18	12014256	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.70932683013266E-4	0.138
18	12014255	C	T	18	12014256	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.66079131427526E-5	0.0
18	12014256	G	A	18	12014257	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00163491983806394	0.1
18	12014256	G	C	18	12014257	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.47663388391538E-5	0.006
18	12014256	G	T	18	12014257	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.33031015026436E-5	0.006
18	12014257	C	A	18	12014258	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00189537230313794	0.158
18	12014257	C	G	18	12014258	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00308165792503062	0.154
18	12014257	C	T	18	12014258	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.89194132107408E-5	0.002
18	12014258	C	A	18	12014259	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0436859155071183	0.458
18	12014258	C	G	18	12014259	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0350157024202293	0.446
18	12014258	C	T	18	12014259	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.00977038508486E-5	0.016
18	12014259	C	A	18	12014260	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00543891169544169	0.038
18	12014259	C	G	18	12014260	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00624204670686005	0.08
18	12014259	C	T	18	12014260	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.12424027580673E-4	0.01
18	12014260	A	C	18	12014261	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.21968703562958E-4	0.022
18	12014260	A	G	18	12014261	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.28076299521119E-4	0.032
18	12014260	A	T	18	12014261	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.79751884049714E-5	0.006
18	12014261	C	A	18	12014262	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.926703742052545	0.814
18	12014261	C	G	18	12014262	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999664893787119	0.74
18	12014261	C	T	18	12014262	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0099906227837461	0.212
18	12014262	A	C	18	12014263	y	y	splicing	IMPA2(NM_014214:exon5:c.382-2A>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.382-2A>C;ENST00000590107:exon5:c.516-2A>C;ENST00000383376:exon6:c.641-2A>C;ENST00000590138:exon4:c.336-2A>C;ENST00000586230:exon3:c.104-2A>C)	.	.	0.999986741007567	0.944
18	12014262	A	G	18	12014263	y	y	splicing	IMPA2(NM_014214:exon5:c.382-2A>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.382-2A>G;ENST00000590107:exon5:c.516-2A>G;ENST00000383376:exon6:c.641-2A>G;ENST00000590138:exon4:c.336-2A>G;ENST00000586230:exon3:c.104-2A>G)	.	.	0.999986741007567	0.944
18	12014262	A	T	18	12014263	y	y	splicing	IMPA2(NM_014214:exon5:c.382-2A>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.382-2A>T;ENST00000590107:exon5:c.516-2A>T;ENST00000383376:exon6:c.641-2A>T;ENST00000590138:exon4:c.336-2A>T;ENST00000586230:exon3:c.104-2A>T)	.	.	0.999986741007567	0.944
18	12014263	G	A	18	12014264	y	y	splicing	IMPA2(NM_014214:exon5:c.382-1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.382-1G>A;ENST00000590107:exon5:c.516-1G>A;ENST00000383376:exon6:c.641-1G>A;ENST00000590138:exon4:c.336-1G>A;ENST00000586230:exon3:c.104-1G>A)	.	.	0.999985473584763	0.952
18	12014263	G	C	18	12014264	y	y	splicing	IMPA2(NM_014214:exon5:c.382-1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.382-1G>C;ENST00000590107:exon5:c.516-1G>C;ENST00000383376:exon6:c.641-1G>C;ENST00000590138:exon4:c.336-1G>C;ENST00000586230:exon3:c.104-1G>C)	.	.	0.999985473584763	0.952
18	12014263	G	T	18	12014264	y	y	splicing	IMPA2(NM_014214:exon5:c.382-1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.382-1G>T;ENST00000590107:exon5:c.516-1G>T;ENST00000383376:exon6:c.641-1G>T;ENST00000590138:exon4:c.336-1G>T;ENST00000586230:exon3:c.104-1G>T)	.	.	0.999985473584763	0.952
18	12014264	C	A	18	12014265	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.C382A:p.L128I;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.C382A:p.L128I;ENSG00000141401:ENST00000590138:exon4:c.C336A:p.S112R;	7.22641910526365E-4	0.054
18	12014264	C	G	18	12014265	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.C382G:p.L128V;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.C382G:p.L128V;ENSG00000141401:ENST00000590138:exon4:c.C336G:p.S112R;	6.20099247051845E-4	0.156
18	12014264	C	T	18	12014265	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.C382T:p.L128F;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.C382T:p.L128F;	0.900099322527873	0.724
18	12014265	T	A	18	12014266	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.T383A:p.L128H;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.T383A:p.L128H;ENSG00000141401:ENST00000590138:exon4:c.T337A:p.L113M;	0.950260929078849	0.536
18	12014265	T	C	18	12014266	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.T383C:p.L128P;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.T383C:p.L128P;	0.352001627154839	0.236
18	12014265	T	G	18	12014266	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.T383G:p.L128R;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.T383G:p.L128R;ENSG00000141401:ENST00000590138:exon4:c.T337G:p.L113V;	0.950260929078849	0.52
18	12014370	C	A	18	12014371	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.C488A:p.T163K;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.C488A:p.T163K;	0.00742790248550604	0.21
18	12014370	C	G	18	12014371	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.C488G:p.T163R;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.C488G:p.T163R;	0.971315088637084	0.73
18	12014370	C	T	18	12014371	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.C488T:p.T163I;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.C488T:p.T163I;	0.999894681958495	0.98
18	12014371	A	C	18	12014372	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon5:c.A489C:p.T163T;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.A489C:p.T163T;	0.99990416590111	0.992
18	12014371	A	G	18	12014372	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon5:c.A489G:p.T163T;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.A489G:p.T163T;	0.999923163287686	0.992
18	12014371	A	T	18	12014372	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon5:c.A489T:p.T163T;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.A489T:p.T163T;	0.999945793124009	0.992
18	12014372	G	A	18	12014373	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.G490A:p.D164N;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.G490A:p.D164N;	0.9999978525582	1.0
18	12014372	G	C	18	12014373	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.G490C:p.D164H;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.G490C:p.D164H;	0.999997953821026	1.0
18	12014372	G	T	18	12014373	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon5:c.G490T:p.D164Y;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon5:c.G490T:p.D164Y;	0.999990111231263	0.998
18	12014373	G	A	18	12014374	y	y	splicing	IMPA2(NM_014214:exon5:c.490+1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.490+1G>A;ENST00000590107:exon5:c.624+1G>A;ENST00000383376:exon6:c.749+1G>A;ENST00000590138:exon4:c.444+1G>A;ENST00000586230:exon3:c.212+1G>A)	.	.	0.999992425382947	0.944
18	12014373	G	C	18	12014374	y	y	splicing	IMPA2(NM_014214:exon5:c.490+1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.490+1G>C;ENST00000590107:exon5:c.624+1G>C;ENST00000383376:exon6:c.749+1G>C;ENST00000590138:exon4:c.444+1G>C;ENST00000586230:exon3:c.212+1G>C)	.	.	0.999992425382947	0.944
18	12014373	G	T	18	12014374	y	y	splicing	IMPA2(NM_014214:exon5:c.490+1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.490+1G>T;ENST00000590107:exon5:c.624+1G>T;ENST00000383376:exon6:c.749+1G>T;ENST00000590138:exon4:c.444+1G>T;ENST00000586230:exon3:c.212+1G>T)	.	.	0.999992425382947	0.944
18	12014374	T	A	18	12014375	y	y	splicing	IMPA2(NM_014214:exon5:c.490+2T>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.490+2T>A;ENST00000590107:exon5:c.624+2T>A;ENST00000383376:exon6:c.749+2T>A;ENST00000590138:exon4:c.444+2T>A;ENST00000586230:exon3:c.212+2T>A)	.	.	0.999987396579647	0.944
18	12014374	T	C	18	12014375	y	y	splicing	IMPA2(NM_014214:exon5:c.490+2T>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.490+2T>C;ENST00000590107:exon5:c.624+2T>C;ENST00000383376:exon6:c.749+2T>C;ENST00000590138:exon4:c.444+2T>C;ENST00000586230:exon3:c.212+2T>C)	.	.	0.999972710292539	0.876
18	12014374	T	G	18	12014375	y	y	splicing	IMPA2(NM_014214:exon5:c.490+2T>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon5:c.490+2T>G;ENST00000590107:exon5:c.624+2T>G;ENST00000383376:exon6:c.749+2T>G;ENST00000590138:exon4:c.444+2T>G;ENST00000586230:exon3:c.212+2T>G)	.	.	0.999987396579647	0.94
18	12014375	G	A	18	12014376	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0114453977019723	0.192
18	12014375	G	C	18	12014376	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.938785410217467	0.834
18	12014375	G	T	18	12014376	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.984726852767603	0.878
18	12014376	G	A	18	12014377	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	9.60173857335027E-4	0.126
18	12014376	G	C	18	12014377	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00562448587570451	0.266
18	12014376	G	T	18	12014377	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0261011894287256	0.222
18	12014377	G	A	18	12014378	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999704954128579	0.822
18	12014377	G	C	18	12014378	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.998903617594453	0.804
18	12014377	G	T	18	12014378	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999966643581414	0.83
18	12014378	C	A	18	12014379	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.7120786393108E-4	0.146
18	12014378	C	G	18	12014379	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00221758706275874	0.174
18	12014378	C	T	18	12014379	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.96139506164274E-5	0.034
18	12014379	T	A	18	12014380	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.76378826111324E-4	0.01
18	12014379	T	C	18	12014380	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	9.68488883805969E-5	0.004
18	12014379	T	G	18	12014380	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.76327766204136E-4	0.008
18	12014380	T	A	18	12014381	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.85964808631422E-4	0.01
18	12014380	T	C	18	12014381	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04404079446569E-4	0.012
18	12014380	T	G	18	12014381	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.46674571887484E-4	0.012
18	12017601	T	A	18	12017602	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.06332176947756E-4	0.002
18	12017601	T	C	18	12017602	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.49488841489436E-5	0.002
18	12017601	T	G	18	12017602	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.55738808084637E-5	0.002
18	12017602	T	A	18	12017603	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.41966287685281E-4	0.004
18	12017602	T	C	18	12017603	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.41966287685281E-4	0.002
18	12017602	T	G	18	12017603	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.41966287685281E-4	0.002
18	12017603	T	A	18	12017604	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.07481618680195E-4	0.004
18	12017603	T	C	18	12017604	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.06332176947756E-4	0.008
18	12017603	T	G	18	12017604	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.06332176947756E-4	0.018
18	12017604	T	A	18	12017605	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.95353042129528E-4	0.026
18	12017604	T	C	18	12017605	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.06332176947756E-4	0.004
18	12017604	T	G	18	12017605	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.06332176947756E-4	0.002
18	12017605	T	A	18	12017606	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.03640525457558E-5	0.0
18	12017605	T	C	18	12017606	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.73477007530828E-5	0.072
18	12017605	T	G	18	12017606	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.73477007530828E-5	0.018
18	12017606	G	A	18	12017607	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.73477007530828E-5	0.006
18	12017606	G	C	18	12017607	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.24015432087519E-5	0.004
18	12017606	G	T	18	12017607	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.73477007530828E-5	0.008
18	12017607	A	C	18	12017608	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.20279124519223E-5	0.016
18	12017607	A	G	18	12017608	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	8.29444940048665E-5	0.022
18	12017607	A	T	18	12017608	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.20279124519223E-5	0.002
18	12017608	A	C	18	12017609	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.03640525457558E-5	0.002
18	12017608	A	G	18	12017609	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.03640525457558E-5	0.012
18	12017608	A	T	18	12017609	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.03640525457558E-5	0.0
18	12017609	A	C	18	12017610	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.77981388804492E-5	0.006
18	12017609	A	G	18	12017610	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.77981388804492E-5	0.006
18	12017609	A	T	18	12017610	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.86998440239442E-5	0.002
18	12017610	C	A	18	12017611	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.77981388804492E-5	0.022
18	12017610	C	G	18	12017611	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.05445532117032E-5	0.028
18	12017610	C	T	18	12017611	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.77981388804492E-5	0.006
18	12017611	A	C	18	12017612	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon7:c.750-2A>C)	.	.	6.84594935755628E-5	0.002
18	12017611	A	G	18	12017612	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon7:c.750-2A>G)	.	.	6.84594935755628E-5	0.002
18	12017611	A	T	18	12017612	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon7:c.750-2A>T)	.	.	6.84594935755628E-5	0.002
18	12017612	G	A	18	12017613	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon7:c.750-1G>A)	.	.	5.55862927766097E-5	0.0
18	12017612	G	C	18	12017613	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon7:c.750-1G>C)	.	.	1.01029157003238E-4	0.0
18	12017612	G	T	18	12017613	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000383376:exon7:c.750-1G>T)	.	.	5.55862927766097E-5	0.0
18	12017613	G	A	18	12017614	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	6.86998440239442E-5	0.008
18	12017613	G	C	18	12017614	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	3.77981388804492E-5	0.006
18	12017613	G	T	18	12017614	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	3.77981388804492E-5	0.01
18	12017614	A	C	18	12017615	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	6.86998440239442E-5	0.002
18	12017614	A	G	18	12017615	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	6.86998440239442E-5	0.002
18	12017614	A	T	18	12017615	n	y	intronic	IMPA2	.	.	UTR3	ENSG00000141401	.	.	6.86998440239442E-5	0.004
18	12021689	T	A	18	12021690	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04531790384734E-5	0.006
18	12021689	T	C	18	12021690	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021689	T	G	18	12021690	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021690	A	C	18	12021691	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021690	A	G	18	12021691	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021690	A	T	18	12021691	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04531790384734E-5	0.006
18	12021691	T	A	18	12021692	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04531790384734E-5	0.006
18	12021691	T	C	18	12021692	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021691	T	G	18	12021692	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021692	G	A	18	12021693	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.45277156108894E-5	0.0
18	12021692	G	C	18	12021693	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.45277156108894E-5	0.0
18	12021692	G	T	18	12021693	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.45277156108894E-5	0.0
18	12021693	T	A	18	12021694	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04531790384734E-5	0.006
18	12021693	T	C	18	12021694	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021693	T	G	18	12021694	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021694	T	A	18	12021695	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04531790384734E-5	0.006
18	12021694	T	C	18	12021695	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021694	T	G	18	12021695	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021695	T	A	18	12021696	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04531790384734E-5	0.006
18	12021695	T	C	18	12021696	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021695	T	G	18	12021696	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021696	G	A	18	12021697	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.60815764102212E-5	0.006
18	12021696	G	C	18	12021697	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.60815764102212E-5	0.012
18	12021696	G	T	18	12021697	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.60815764102212E-5	0.006
18	12021697	G	A	18	12021698	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.60815764102212E-5	0.006
18	12021697	G	C	18	12021698	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.60815764102212E-5	0.012
18	12021697	G	T	18	12021698	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.60815764102212E-5	0.006
18	12021698	T	A	18	12021699	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.04531790384734E-5	0.006
18	12021698	T	C	18	12021699	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021698	T	G	18	12021699	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.89552819446206E-5	0.002
18	12021699	A	C	18	12021700	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.213-2A>C)	.	.	3.78864525412067E-5	0.0
18	12021699	A	G	18	12021700	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.213-2A>G)	.	.	3.78864525412067E-5	0.002
18	12021699	A	T	18	12021700	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.213-2A>T)	.	.	3.78864525412067E-5	0.0
18	12021700	G	A	18	12021701	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.213-1G>A)	.	.	7.60815764102212E-5	0.006
18	12021700	G	C	18	12021701	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.213-1G>C)	.	.	4.92559286361592E-5	0.012
18	12021700	G	T	18	12021701	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.213-1G>T)	.	.	7.60815764102212E-5	0.008
18	12021701	A	C	18	12021702	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	1.89552819446206E-5	0.002
18	12021701	A	G	18	12021702	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	1.89552819446206E-5	0.002
18	12021701	A	T	18	12021702	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	2.04531790384734E-5	0.004
18	12021702	G	A	18	12021703	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	7.60815764102212E-5	0.006
18	12021702	G	C	18	12021703	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	4.92559286361592E-5	0.012
18	12021702	G	T	18	12021703	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	7.60815764102212E-5	0.012
18	12021819	T	A	18	12021820	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	2.38206837572038E-4	0.056
18	12021819	T	C	18	12021820	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	3.18514214212084E-4	0.13
18	12021819	T	G	18	12021820	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	3.18514214212084E-4	0.13
18	12021820	G	A	18	12021821	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	1.91754950667398E-5	0.0
18	12021820	G	C	18	12021821	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	1.91754950667398E-5	0.0
18	12021820	G	T	18	12021821	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	1.91754950667398E-5	0.0
18	12021821	A	C	18	12021822	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	3.76365668220871E-4	0.072
18	12021821	A	G	18	12021822	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	3.76365668220871E-4	0.072
18	12021821	A	T	18	12021822	n	y	intronic	IMPA2	.	.	exonic	ENSG00000141401	unknown	UNKNOWN	3.76365668220871E-4	0.108
18	12021822	G	A	18	12021823	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.333+1G>A)	.	.	1.08788427788342E-5	0.0
18	12021822	G	C	18	12021823	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.333+1G>C)	.	.	7.04290327727273E-6	0.0
18	12021822	G	T	18	12021823	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.333+1G>T)	.	.	1.08788427788342E-5	0.0
18	12021823	T	A	18	12021824	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.333+2T>A)	.	.	1.86269840649936E-5	0.004
18	12021823	T	C	18	12021824	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.333+2T>C)	.	.	1.20590404879984E-5	0.0
18	12021823	T	G	18	12021824	n	y	intronic	IMPA2	.	.	splicing	ENSG00000141401(ENST00000586230:exon4:c.333+2T>G)	.	.	1.20590404879984E-5	0.0
18	12021824	A	C	18	12021825	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.48367148474546E-5	0.008
18	12021824	A	G	18	12021825	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.48367148474546E-5	0.006
18	12021824	A	T	18	12021825	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.52173701430229E-5	0.01
18	12021825	C	A	18	12021826	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.08788427788342E-5	0.0
18	12021825	C	G	18	12021826	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.08788427788342E-5	0.0
18	12021825	C	T	18	12021826	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.08788427788342E-5	0.0
18	12021826	G	A	18	12021827	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.45277156108894E-5	0.0
18	12021826	G	C	18	12021827	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.45277156108894E-5	0.0
18	12021826	G	T	18	12021827	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.45277156108894E-5	0.0
18	12021827	T	A	18	12021828	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.032
18	12021827	T	C	18	12021828	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.03
18	12021827	T	G	18	12021828	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.03
18	12021828	A	C	18	12021829	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.03
18	12021828	A	G	18	12021829	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.03
18	12021828	A	T	18	12021829	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.032
18	12021829	T	A	18	12021830	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.32880881212684E-4	0.032
18	12021829	T	C	18	12021830	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.03
18	12021829	T	G	18	12021830	n	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.38206837572038E-4	0.03
18	12028030	T	A	18	12028031	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00297279444748748	0.152
18	12028030	T	C	18	12028031	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.50618256047446E-4	0.008
18	12028030	T	G	18	12028031	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00144948931425498	0.126
18	12028031	T	A	18	12028032	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.50456359401669E-4	0.064
18	12028031	T	C	18	12028032	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.01797932020479E-4	0.024
18	12028031	T	G	18	12028032	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.35839068941029E-4	0.132
18	12028032	T	A	18	12028033	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0335677585639467	0.312
18	12028032	T	C	18	12028033	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.91981462971643E-4	0.04
18	12028032	T	G	18	12028033	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0288382306915951	0.244
18	12028033	T	A	18	12028034	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.6344723971244E-4	0.108
18	12028033	T	C	18	12028034	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.70199944134796E-4	0.026
18	12028033	T	G	18	12028034	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.99034040243962E-4	0.084
18	12028034	T	A	18	12028035	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00570837642597251	0.108
18	12028034	T	C	18	12028035	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.13022068673081E-4	0.002
18	12028034	T	G	18	12028035	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00424653998985964	0.116
18	12028035	A	C	18	12028036	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.66602122352025E-6	0.0
18	12028035	A	G	18	12028036	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.67225638057871E-5	0.0
18	12028035	A	T	18	12028036	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.66602122352025E-6	0.0
18	12028036	T	A	18	12028037	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00376358178542276	0.09
18	12028036	T	C	18	12028037	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.96913393436405E-5	0.0
18	12028036	T	G	18	12028037	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999266809819522	0.944
18	12028037	T	A	18	12028038	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.989211378753049	0.92
18	12028037	T	C	18	12028038	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.59748788200814E-4	0.14
18	12028037	T	G	18	12028038	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0169536512726844	0.244
18	12028038	G	A	18	12028039	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.4698031831675E-5	0.002
18	12028038	G	C	18	12028039	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.32844952755964E-5	0.002
18	12028038	G	T	18	12028039	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.12223219673305E-5	0.0
18	12028039	C	A	18	12028040	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.996772748460799	0.694
18	12028039	C	G	18	12028040	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999829967877433	0.862
18	12028039	C	T	18	12028040	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0218671752497582	0.224
18	12028040	A	C	18	12028041	y	y	splicing	IMPA2(NM_014214:exon6:c.491-2A>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon6:c.491-2A>C;ENST00000590107:exon6:c.625-2A>C;ENST00000590138:exon5:c.445-2A>C;ENST00000586230:exon5:c.334-2A>C)	.	.	0.999971317418422	0.898
18	12028040	A	G	18	12028041	y	y	splicing	IMPA2(NM_014214:exon6:c.491-2A>G)	.	.	splicing	ENSG00000141401(ENST00000269159:exon6:c.491-2A>G;ENST00000590107:exon6:c.625-2A>G;ENST00000590138:exon5:c.445-2A>G;ENST00000586230:exon5:c.334-2A>G)	.	.	0.999971317418422	0.9
18	12028040	A	T	18	12028041	y	y	splicing	IMPA2(NM_014214:exon6:c.491-2A>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon6:c.491-2A>T;ENST00000590107:exon6:c.625-2A>T;ENST00000590138:exon5:c.445-2A>T;ENST00000586230:exon5:c.334-2A>T)	.	.	0.999963671976247	0.938
18	12028041	G	A	18	12028042	y	y	splicing	IMPA2(NM_014214:exon6:c.491-1G>A)	.	.	splicing	ENSG00000141401(ENST00000269159:exon6:c.491-1G>A;ENST00000590107:exon6:c.625-1G>A;ENST00000590138:exon5:c.445-1G>A;ENST00000586230:exon5:c.334-1G>A)	.	.	0.999967358293902	0.936
18	12028041	G	C	18	12028042	y	y	splicing	IMPA2(NM_014214:exon6:c.491-1G>C)	.	.	splicing	ENSG00000141401(ENST00000269159:exon6:c.491-1G>C;ENST00000590107:exon6:c.625-1G>C;ENST00000590138:exon5:c.445-1G>C;ENST00000586230:exon5:c.334-1G>C)	.	.	0.99996621969971	0.934
18	12028041	G	T	18	12028042	y	y	splicing	IMPA2(NM_014214:exon6:c.491-1G>T)	.	.	splicing	ENSG00000141401(ENST00000269159:exon6:c.491-1G>T;ENST00000590107:exon6:c.625-1G>T;ENST00000590138:exon5:c.445-1G>T;ENST00000586230:exon5:c.334-1G>T)	.	.	0.999967358293902	0.936
18	12028042	A	C	18	12028043	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.A491C:p.D164A;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.A491C:p.D164A;	0.0078340373668325	0.216
18	12028042	A	G	18	12028043	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.A491G:p.D164G;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.A491G:p.D164G;	0.00192300628800559	0.022
18	12028042	A	T	18	12028043	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.A491T:p.D164V;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.A491T:p.D164V;	0.0164757826852271	0.196
18	12028043	T	A	18	12028044	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.T492A:p.D164E;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.T492A:p.D164E;	2.3208195117434E-4	0.002
18	12028043	T	C	18	12028044	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon6:c.T492C:p.D164D;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.T492C:p.D164D;	1.70027733483661E-4	0.004
18	12028043	T	G	18	12028044	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.T492G:p.D164E;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.T492G:p.D164E;	7.54773320463684E-4	0.028
18	12028148	T	A	18	12028149	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.T597A:p.H199Q;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.T597A:p.H199Q;ENSG00000141401:ENST00000588927:exon6:c.T30A:p.H10Q;ENSG00000141401:ENST00000589238:exon6:c.T30A:p.H10Q;	1.96162039933634E-5	0.076
18	12028148	T	C	18	12028149	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon6:c.T597C:p.H199H;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.T597C:p.H199H;ENSG00000141401:ENST00000588927:exon6:c.T30C:p.H10H;ENSG00000141401:ENST00000589238:exon6:c.T30C:p.H10H;	4.42951236021517E-5	0.0
18	12028148	T	G	18	12028149	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.T597G:p.H199Q;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.T597G:p.H199Q;ENSG00000141401:ENST00000588927:exon6:c.T30G:p.H10Q;ENSG00000141401:ENST00000589238:exon6:c.T30G:p.H10Q;	9.95964397860324E-5	0.09
18	12028149	G	A	18	12028150	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.G598A:p.G200R;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.G598A:p.G200R;ENSG00000141401:ENST00000588927:exon6:c.G31A:p.G11R;ENSG00000141401:ENST00000589238:exon6:c.G31A:p.G11R;	0.947754394153765	0.642
18	12028149	G	C	18	12028150	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.G598C:p.G200R;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.G598C:p.G200R;ENSG00000141401:ENST00000588927:exon6:c.G31C:p.G11R;ENSG00000141401:ENST00000589238:exon6:c.G31C:p.G11R;	0.991592361385362	0.864
18	12028149	G	T	18	12028150	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.G598T:p.G200W;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.G598T:p.G200W;ENSG00000141401:ENST00000588927:exon6:c.G31T:p.G11W;ENSG00000141401:ENST00000589238:exon6:c.G31T:p.G11W;	0.994836881991609	0.81
18	12028150	G	A	18	12028151	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.G599A:p.G200E;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.G599A:p.G200E;ENSG00000141401:ENST00000588927:exon6:c.G32A:p.G11E;ENSG00000141401:ENST00000589238:exon6:c.G32A:p.G11E;	0.999997630933046	1.0
18	12028150	G	C	18	12028151	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.G599C:p.G200A;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.G599C:p.G200A;ENSG00000141401:ENST00000588927:exon6:c.G32C:p.G11A;ENSG00000141401:ENST00000589238:exon6:c.G32C:p.G11A;	0.999997577404125	0.998
18	12028150	G	T	18	12028151	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon6:c.G599T:p.G200V;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon6:c.G599T:p.G200V;ENSG00000141401:ENST00000588927:exon6:c.G32T:p.G11V;ENSG00000141401:ENST00000589238:exon6:c.G32T:p.G11V;	0.999989672793356	0.998
18	12028151	G	A	18	12028152	y	y	splicing	IMPA2(NM_014214:exon6:c.599+1G>A)	.	.	splicing	ENSG00000141401(ENST00000589238:exon6:c.32+1G>A;ENST00000269159:exon6:c.599+1G>A;ENST00000590107:exon6:c.733+1G>A;ENST00000590138:exon5:c.553+1G>A;ENST00000588927:exon6:c.32+1G>A;ENST00000586230:exon5:c.442+1G>A)	.	.	0.999984967332678	0.938
18	12028151	G	C	18	12028152	y	y	splicing	IMPA2(NM_014214:exon6:c.599+1G>C)	.	.	splicing	ENSG00000141401(ENST00000589238:exon6:c.32+1G>C;ENST00000269159:exon6:c.599+1G>C;ENST00000590107:exon6:c.733+1G>C;ENST00000590138:exon5:c.553+1G>C;ENST00000588927:exon6:c.32+1G>C;ENST00000586230:exon5:c.442+1G>C)	.	.	0.999984967332678	0.938
18	12028151	G	T	18	12028152	y	y	splicing	IMPA2(NM_014214:exon6:c.599+1G>T)	.	.	splicing	ENSG00000141401(ENST00000589238:exon6:c.32+1G>T;ENST00000269159:exon6:c.599+1G>T;ENST00000590107:exon6:c.733+1G>T;ENST00000590138:exon5:c.553+1G>T;ENST00000588927:exon6:c.32+1G>T;ENST00000586230:exon5:c.442+1G>T)	.	.	0.999984967332678	0.938
18	12028152	T	A	18	12028153	y	y	splicing	IMPA2(NM_014214:exon6:c.599+2T>A)	.	.	splicing	ENSG00000141401(ENST00000589238:exon6:c.32+2T>A;ENST00000269159:exon6:c.599+2T>A;ENST00000590107:exon6:c.733+2T>A;ENST00000590138:exon5:c.553+2T>A;ENST00000588927:exon6:c.32+2T>A;ENST00000586230:exon5:c.442+2T>A)	.	.	0.999986741007567	0.932
18	12028152	T	C	18	12028153	y	y	splicing	IMPA2(NM_014214:exon6:c.599+2T>C)	.	.	splicing	ENSG00000141401(ENST00000589238:exon6:c.32+2T>C;ENST00000269159:exon6:c.599+2T>C;ENST00000590107:exon6:c.733+2T>C;ENST00000590138:exon5:c.553+2T>C;ENST00000588927:exon6:c.32+2T>C;ENST00000586230:exon5:c.442+2T>C)	.	.	0.999761278776715	0.872
18	12028152	T	G	18	12028153	y	y	splicing	IMPA2(NM_014214:exon6:c.599+2T>G)	.	.	splicing	ENSG00000141401(ENST00000589238:exon6:c.32+2T>G;ENST00000269159:exon6:c.599+2T>G;ENST00000590107:exon6:c.733+2T>G;ENST00000590138:exon5:c.553+2T>G;ENST00000588927:exon6:c.32+2T>G;ENST00000586230:exon5:c.442+2T>G)	.	.	0.999976254090479	0.93
18	12028153	A	C	18	12028154	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999930839644392	0.912
18	12028153	A	G	18	12028154	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999236373380568	0.834
18	12028153	A	T	18	12028154	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999812919765143	0.874
18	12028154	G	A	18	12028155	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.30719305831412E-5	0.018
18	12028154	G	C	18	12028155	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.68845391957776E-5	0.042
18	12028154	G	T	18	12028155	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.68845391957776E-5	0.02
18	12028155	G	A	18	12028156	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999892816193506	0.76
18	12028155	G	C	18	12028156	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999943547128075	0.792
18	12028155	G	T	18	12028156	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999921311134553	0.736
18	12028156	A	C	18	12028157	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.55595352438441E-4	0.038
18	12028156	A	G	18	12028157	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.89429486932964E-4	0.038
18	12028156	A	T	18	12028157	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.56424648672786E-4	0.06
18	12028157	G	A	18	12028158	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.89241473444848E-5	0.056
18	12028157	G	C	18	12028158	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	9.94550522501641E-5	0.108
18	12028157	G	T	18	12028158	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.12038373957544E-5	0.0
18	12028158	G	A	18	12028159	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.10214483709589E-5	0.03
18	12028158	G	C	18	12028159	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	8.42728141870615E-6	0.026
18	12028158	G	T	18	12028159	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.10214483709589E-5	0.038
18	12028829	C	A	18	12028830	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.10612743181321E-4	0.062
18	12028829	C	G	18	12028830	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.03827301075019E-4	0.018
18	12028829	C	T	18	12028830	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.48643320268234E-5	0.0
18	12028830	C	A	18	12028831	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.42902790702906E-4	0.006
18	12028830	C	G	18	12028831	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.55222010927002E-5	0.004
18	12028830	C	T	18	12028831	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.16601599571324E-5	0.008
18	12028831	C	A	18	12028832	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.81636237487303E-5	0.008
18	12028831	C	G	18	12028832	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.00790472842586E-5	0.002
18	12028831	C	T	18	12028832	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.27548350319013E-5	0.0
18	12028832	T	A	18	12028833	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.88371740054146E-4	0.096
18	12028832	T	C	18	12028833	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.44231796161504E-4	0.002
18	12028832	T	G	18	12028833	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.22324660880324E-4	0.102
18	12028833	C	A	18	12028834	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.10213800476699E-4	0.034
18	12028833	C	G	18	12028834	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.59654941256091E-4	0.038
18	12028833	C	T	18	12028834	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.06709826608806E-5	0.01
18	12028834	T	A	18	12028835	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.71897464319726E-4	0.062
18	12028834	T	C	18	12028835	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.34546646215459E-5	0.002
18	12028834	T	G	18	12028835	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.84020445643061E-4	0.05
18	12028835	C	A	18	12028836	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.54599177530276E-4	0.126
18	12028835	C	G	18	12028836	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.31251074420373E-4	0.134
18	12028835	C	T	18	12028836	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	8.35088158398895E-5	0.018
18	12028836	C	A	18	12028837	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.01505794540814E-4	0.008
18	12028836	C	G	18	12028837	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.61321659108725E-4	0.122
18	12028836	C	T	18	12028837	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.80248286061925E-5	0.0
18	12028837	C	A	18	12028838	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.31999376994169E-5	0.0
18	12028837	C	G	18	12028838	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	9.64054253531821E-5	0.0
18	12028837	C	T	18	12028838	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.31999376994169E-5	0.002
18	12028838	C	A	18	12028839	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.867938292243353	0.64
18	12028838	C	G	18	12028839	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999886416468825	0.976
18	12028838	C	T	18	12028839	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0914689903726796	0.216
18	12028839	A	C	18	12028840	y	y	splicing	IMPA2(NM_014214:exon7:c.600-2A>C)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.33-2A>C;ENST00000269159:exon7:c.600-2A>C;ENST00000590107:exon7:c.734-2A>C;ENST00000590138:exon6:c.554-2A>C;ENST00000588927:exon7:c.33-2A>C;ENST00000586230:exon6:c.443-2A>C)	.	.	0.999988247793601	0.93
18	12028839	A	G	18	12028840	y	y	splicing	IMPA2(NM_014214:exon7:c.600-2A>G)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.33-2A>G;ENST00000269159:exon7:c.600-2A>G;ENST00000590107:exon7:c.734-2A>G;ENST00000590138:exon6:c.554-2A>G;ENST00000588927:exon7:c.33-2A>G;ENST00000586230:exon6:c.443-2A>G)	.	.	0.999988247793601	0.93
18	12028839	A	T	18	12028840	y	y	splicing	IMPA2(NM_014214:exon7:c.600-2A>T)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.33-2A>T;ENST00000269159:exon7:c.600-2A>T;ENST00000590107:exon7:c.734-2A>T;ENST00000590138:exon6:c.554-2A>T;ENST00000588927:exon7:c.33-2A>T;ENST00000586230:exon6:c.443-2A>T)	.	.	0.999988247793601	0.93
18	12028840	G	A	18	12028841	y	y	splicing	IMPA2(NM_014214:exon7:c.600-1G>A)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.33-1G>A;ENST00000269159:exon7:c.600-1G>A;ENST00000590107:exon7:c.734-1G>A;ENST00000590138:exon6:c.554-1G>A;ENST00000588927:exon7:c.33-1G>A;ENST00000586230:exon6:c.443-1G>A)	.	.	0.999990361384395	0.938
18	12028840	G	C	18	12028841	y	y	splicing	IMPA2(NM_014214:exon7:c.600-1G>C)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.33-1G>C;ENST00000269159:exon7:c.600-1G>C;ENST00000590107:exon7:c.734-1G>C;ENST00000590138:exon6:c.554-1G>C;ENST00000588927:exon7:c.33-1G>C;ENST00000586230:exon6:c.443-1G>C)	.	.	0.999990361384395	0.938
18	12028840	G	T	18	12028841	y	y	splicing	IMPA2(NM_014214:exon7:c.600-1G>T)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.33-1G>T;ENST00000269159:exon7:c.600-1G>T;ENST00000590107:exon7:c.734-1G>T;ENST00000590138:exon6:c.554-1G>T;ENST00000588927:exon7:c.33-1G>T;ENST00000586230:exon6:c.443-1G>T)	.	.	0.999990361384395	0.938
18	12028841	G	A	18	12028842	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon7:c.G600A:p.G200G;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G600A:p.G200G;ENSG00000141401:ENST00000588927:exon7:c.G33A:p.G11G;ENSG00000141401:ENST00000589238:exon7:c.G33A:p.G11G;	0.0611264418647926	0.23
18	12028841	G	C	18	12028842	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon7:c.G600C:p.G200G;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G600C:p.G200G;ENSG00000141401:ENST00000588927:exon7:c.G33C:p.G11G;ENSG00000141401:ENST00000589238:exon7:c.G33C:p.G11G;	0.158343034326075	0.46
18	12028841	G	T	18	12028842	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon7:c.G600T:p.G200G;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G600T:p.G200G;ENSG00000141401:ENST00000588927:exon7:c.G33T:p.G11G;ENSG00000141401:ENST00000589238:exon7:c.G33T:p.G11G;	0.325248869660233	0.528
18	12028842	G	A	18	12028843	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon7:c.G601A:p.V201I;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G601A:p.V201I;ENSG00000141401:ENST00000588927:exon7:c.G34A:p.V12I;ENSG00000141401:ENST00000589238:exon7:c.G34A:p.V12I;	0.00210591333276379	0.074
18	12028842	G	C	18	12028843	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon7:c.G601C:p.V201L;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G601C:p.V201L;ENSG00000141401:ENST00000588927:exon7:c.G34C:p.V12L;ENSG00000141401:ENST00000589238:exon7:c.G34C:p.V12L;	0.00330627531527245	0.048
18	12028842	G	T	18	12028843	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon7:c.G601T:p.V201F;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G601T:p.V201F;ENSG00000141401:ENST00000588927:exon7:c.G34T:p.V12F;ENSG00000141401:ENST00000589238:exon7:c.G34T:p.V12F;	0.837951509615851	0.778
18	12028990	C	A	18	12028991	y	y	exonic	IMPA2	stopgain SNV	IMPA2:NM_014214:exon7:c.C749A:p.S250X;	exonic	ENSG00000141401	stopgain SNV	ENSG00000141401:ENST00000269159:exon7:c.C749A:p.S250X;ENSG00000141401:ENST00000588927:exon7:c.C182A:p.S61X;ENSG00000141401:ENST00000589238:exon7:c.C182A:p.S61X;	0.961094621627274	0.832
18	12028990	C	G	18	12028991	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon7:c.C749G:p.S250W;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.C749G:p.S250W;ENSG00000141401:ENST00000588927:exon7:c.C182G:p.S61W;ENSG00000141401:ENST00000589238:exon7:c.C182G:p.S61W;	0.980834450527055	0.682
18	12028990	C	T	18	12028991	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon7:c.C749T:p.S250L;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.C749T:p.S250L;ENSG00000141401:ENST00000588927:exon7:c.C182T:p.S61L;ENSG00000141401:ENST00000589238:exon7:c.C182T:p.S61L;	0.999787257735562	0.878
18	12028991	G	A	18	12028992	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon7:c.G750A:p.S250S;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G750A:p.S250S;ENSG00000141401:ENST00000588927:exon7:c.G183A:p.S61S;ENSG00000141401:ENST00000589238:exon7:c.G183A:p.S61S;	8.37767648863592E-5	0.056
18	12028991	G	C	18	12028992	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon7:c.G750C:p.S250S;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G750C:p.S250S;ENSG00000141401:ENST00000588927:exon7:c.G183C:p.S61S;ENSG00000141401:ENST00000589238:exon7:c.G183C:p.S61S;	3.66290068180718E-5	0.004
18	12028991	G	T	18	12028992	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon7:c.G750T:p.S250S;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G750T:p.S250S;ENSG00000141401:ENST00000588927:exon7:c.G183T:p.S61S;ENSG00000141401:ENST00000589238:exon7:c.G183T:p.S61S;	1.66996338792396E-4	0.01
18	12028992	G	A	18	12028993	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon7:c.G751A:p.G251S;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G751A:p.G251S;ENSG00000141401:ENST00000588927:exon7:c.G184A:p.G62S;ENSG00000141401:ENST00000589238:exon7:c.G184A:p.G62S;	0.99998161910319	0.996
18	12028992	G	C	18	12028993	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon7:c.G751C:p.G251R;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G751C:p.G251R;ENSG00000141401:ENST00000588927:exon7:c.G184C:p.G62R;ENSG00000141401:ENST00000589238:exon7:c.G184C:p.G62R;	0.999990216344646	0.986
18	12028992	G	T	18	12028993	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon7:c.G751T:p.G251C;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon7:c.G751T:p.G251C;ENSG00000141401:ENST00000588927:exon7:c.G184T:p.G62C;ENSG00000141401:ENST00000589238:exon7:c.G184T:p.G62C;	0.999958524232221	1.0
18	12028993	G	A	18	12028994	y	y	splicing	IMPA2(NM_014214:exon7:c.751+1G>A)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.184+1G>A;ENST00000269159:exon7:c.751+1G>A;ENST00000590107:exon7:c.885+1G>A;ENST00000590138:exon6:c.705+1G>A;ENST00000588927:exon7:c.184+1G>A)	.	.	0.999989072007339	0.934
18	12028993	G	C	18	12028994	y	y	splicing	IMPA2(NM_014214:exon7:c.751+1G>C)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.184+1G>C;ENST00000269159:exon7:c.751+1G>C;ENST00000590107:exon7:c.885+1G>C;ENST00000590138:exon6:c.705+1G>C;ENST00000588927:exon7:c.184+1G>C)	.	.	0.999989072007339	0.934
18	12028993	G	T	18	12028994	y	y	splicing	IMPA2(NM_014214:exon7:c.751+1G>T)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.184+1G>T;ENST00000269159:exon7:c.751+1G>T;ENST00000590107:exon7:c.885+1G>T;ENST00000590138:exon6:c.705+1G>T;ENST00000588927:exon7:c.184+1G>T)	.	.	0.999989072007339	0.934
18	12028994	T	A	18	12028995	y	y	splicing	IMPA2(NM_014214:exon7:c.751+2T>A)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.184+2T>A;ENST00000269159:exon7:c.751+2T>A;ENST00000590107:exon7:c.885+2T>A;ENST00000590138:exon6:c.705+2T>A;ENST00000588927:exon7:c.184+2T>A)	.	.	0.999988247793601	0.93
18	12028994	T	C	18	12028995	y	y	splicing	IMPA2(NM_014214:exon7:c.751+2T>C)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.184+2T>C;ENST00000269159:exon7:c.751+2T>C;ENST00000590107:exon7:c.885+2T>C;ENST00000590138:exon6:c.705+2T>C;ENST00000588927:exon7:c.184+2T>C)	.	.	0.999983530538551	0.946
18	12028994	T	G	18	12028995	y	y	splicing	IMPA2(NM_014214:exon7:c.751+2T>G)	.	.	splicing	ENSG00000141401(ENST00000589238:exon7:c.184+2T>G;ENST00000269159:exon7:c.751+2T>G;ENST00000590107:exon7:c.885+2T>G;ENST00000590138:exon6:c.705+2T>G;ENST00000588927:exon7:c.184+2T>G)	.	.	0.999988247793601	0.93
18	12028995	G	A	18	12028996	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.9896701698366E-4	0.002
18	12028995	G	C	18	12028996	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.925234432807009	0.692
18	12028995	G	T	18	12028996	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.997896174665736	0.732
18	12028996	A	C	18	12028997	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.953918178559658	0.592
18	12028996	A	G	18	12028997	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.990143504147121	0.804
18	12028996	A	T	18	12028997	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.993782239774728	0.848
18	12028997	G	A	18	12028998	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999939138218209	1.0
18	12028997	G	C	18	12028998	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999948948985582	0.896
18	12028997	G	T	18	12028998	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.999942487945344	0.966
18	12028998	C	A	18	12028999	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.67502126137547E-4	0.004
18	12028998	C	G	18	12028999	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.5729608190729E-4	0.064
18	12028998	C	T	18	12028999	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.19247982911109E-5	0.0
18	12028999	T	A	18	12029000	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.07256548728156E-5	0.0
18	12028999	T	C	18	12029000	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.78389654127837E-5	0.002
18	12028999	T	G	18	12029000	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.78389654127837E-5	0.0
18	12029000	C	A	18	12029001	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.1780794967401E-4	0.09
18	12029000	C	G	18	12029001	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.97442872044839E-4	0.034
18	12029000	C	T	18	12029001	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.1780794967401E-4	0.01
18	12030330	G	A	18	12030331	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.70652346530969E-5	0.004
18	12030330	G	C	18	12030331	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.40173270250616E-6	0.0
18	12030330	G	T	18	12030331	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.26848964498332E-5	0.0
18	12030331	T	A	18	12030332	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0345143401284293	0.23
18	12030331	T	C	18	12030332	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.37589432506662E-4	0.036
18	12030331	T	G	18	12030332	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0199732627279538	0.23
18	12030332	C	A	18	12030333	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.59122453642978E-4	0.044
18	12030332	C	G	18	12030333	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.12689487044709E-4	0.01
18	12030332	C	T	18	12030333	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.4893610658136E-5	0.0
18	12030333	T	A	18	12030334	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.992245134571042	0.938
18	12030333	T	C	18	12030334	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	3.18930866902771E-5	0.0
18	12030333	T	G	18	12030334	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00229558305187381	0.078
18	12030334	G	A	18	12030335	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	4.06739023366723E-5	0.0
18	12030334	G	C	18	12030335	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	8.56138425493005E-6	0.002
18	12030334	G	T	18	12030335	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.44051812991892E-6	0.0
18	12030335	T	A	18	12030336	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.120156051739712	0.402
18	12030335	T	C	18	12030336	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.46833195421817E-4	0.0
18	12030335	T	G	18	12030336	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.0523381831303564	0.264
18	12030336	C	A	18	12030337	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.017009290503131	0.264
18	12030336	C	G	18	12030337	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.017009290503131	0.234
18	12030336	C	T	18	12030337	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	9.25957827054348E-5	0.024
18	12030337	C	A	18	12030338	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	1.77324570355076E-4	0.006
18	12030337	C	G	18	12030338	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.06510661956712E-4	0.1
18	12030337	C	T	18	12030338	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	2.27548350319013E-5	0.0
18	12030338	C	A	18	12030339	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	5.68922002181297E-5	0.006
18	12030338	C	G	18	12030339	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	6.02516624049377E-5	0.006
18	12030338	C	T	18	12030339	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	7.9482412088302E-5	0.008
18	12030339	C	A	18	12030340	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.506791193861294	0.376
18	12030339	C	G	18	12030340	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.985994881557695	0.906
18	12030339	C	T	18	12030340	y	y	intronic	IMPA2	.	.	intronic	ENSG00000141401	.	.	0.00527872348532058	0.022
18	12030340	A	C	18	12030341	y	y	splicing	IMPA2(NM_014214:exon8:c.752-2A>C)	.	.	splicing	ENSG00000141401(ENST00000589238:exon8:c.185-2A>C;ENST00000269159:exon8:c.752-2A>C;ENST00000590107:exon8:c.886-2A>C;ENST00000590138:exon7:c.706-2A>C;ENST00000588927:exon8:c.185-2A>C)	.	.	0.999989917668626	0.912
18	12030340	A	G	18	12030341	y	y	splicing	IMPA2(NM_014214:exon8:c.752-2A>G)	.	.	splicing	ENSG00000141401(ENST00000589238:exon8:c.185-2A>G;ENST00000269159:exon8:c.752-2A>G;ENST00000590107:exon8:c.886-2A>G;ENST00000590138:exon7:c.706-2A>G;ENST00000588927:exon8:c.185-2A>G)	.	.	0.999989917668626	0.918
18	12030340	A	T	18	12030341	y	y	splicing	IMPA2(NM_014214:exon8:c.752-2A>T)	.	.	splicing	ENSG00000141401(ENST00000589238:exon8:c.185-2A>T;ENST00000269159:exon8:c.752-2A>T;ENST00000590107:exon8:c.886-2A>T;ENST00000590138:exon7:c.706-2A>T;ENST00000588927:exon8:c.185-2A>T)	.	.	0.999989917668626	0.926
18	12030341	G	A	18	12030342	y	y	splicing	IMPA2(NM_014214:exon8:c.752-1G>A)	.	.	splicing	ENSG00000141401(ENST00000589238:exon8:c.185-1G>A;ENST00000269159:exon8:c.752-1G>A;ENST00000590107:exon8:c.886-1G>A;ENST00000590138:exon7:c.706-1G>A;ENST00000588927:exon8:c.185-1G>A)	.	.	0.999986675681007	0.938
18	12030341	G	C	18	12030342	y	y	splicing	IMPA2(NM_014214:exon8:c.752-1G>C)	.	.	splicing	ENSG00000141401(ENST00000589238:exon8:c.185-1G>C;ENST00000269159:exon8:c.752-1G>C;ENST00000590107:exon8:c.886-1G>C;ENST00000590138:exon7:c.706-1G>C;ENST00000588927:exon8:c.185-1G>C)	.	.	0.999986675681007	0.938
18	12030341	G	T	18	12030342	y	y	splicing	IMPA2(NM_014214:exon8:c.752-1G>T)	.	.	splicing	ENSG00000141401(ENST00000589238:exon8:c.185-1G>T;ENST00000269159:exon8:c.752-1G>T;ENST00000590107:exon8:c.886-1G>T;ENST00000590138:exon7:c.706-1G>T;ENST00000588927:exon8:c.185-1G>T)	.	.	0.999986675681007	0.938
18	12030342	G	A	18	12030343	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon8:c.G752A:p.G251D;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon8:c.G752A:p.G251D;ENSG00000141401:ENST00000588927:exon8:c.G185A:p.G62D;ENSG00000141401:ENST00000589238:exon8:c.G185A:p.G62D;	0.993833102852086	0.804
18	12030342	G	C	18	12030343	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon8:c.G752C:p.G251A;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon8:c.G752C:p.G251A;ENSG00000141401:ENST00000588927:exon8:c.G185C:p.G62A;ENSG00000141401:ENST00000589238:exon8:c.G185C:p.G62A;	0.999701499395102	0.954
18	12030342	G	T	18	12030343	y	y	exonic	IMPA2	nonsynonymous SNV	IMPA2:NM_014214:exon8:c.G752T:p.G251V;	exonic	ENSG00000141401	nonsynonymous SNV	ENSG00000141401:ENST00000269159:exon8:c.G752T:p.G251V;ENSG00000141401:ENST00000588927:exon8:c.G185T:p.G62V;ENSG00000141401:ENST00000589238:exon8:c.G185T:p.G62V;	0.999427577335185	0.946
18	12030343	T	A	18	12030344	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon8:c.T753A:p.G251G;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon8:c.T753A:p.G251G;ENSG00000141401:ENST00000588927:exon8:c.T186A:p.G62G;ENSG00000141401:ENST00000589238:exon8:c.T186A:p.G62G;	2.61483573766154E-4	0.012
18	12030343	T	C	18	12030344	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon8:c.T753C:p.G251G;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon8:c.T753C:p.G251G;ENSG00000141401:ENST00000588927:exon8:c.T186C:p.G62G;ENSG00000141401:ENST00000589238:exon8:c.T186C:p.G62G;	1.71293994488786E-4	0.016
18	12030343	T	G	18	12030344	y	y	exonic	IMPA2	synonymous SNV	IMPA2:NM_014214:exon8:c.T753G:p.G251G;	exonic	ENSG00000141401	synonymous SNV	ENSG00000141401:ENST00000269159:exon8:c.T753G:p.G251G;ENSG00000141401:ENST00000588927:exon8:c.T186G:p.G62G;ENSG00000141401:ENST00000589238:exon8:c.T186G:p.G62G;	1.71293994488786E-4	0.01
18	12094232	C	A	18	12094233	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon1:c.C216A:p.N72K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.C216A:p.N72K;ENSG00000181626:ENST00000314074:exon1:c.C174A:p.N58K;	8.69622141410831E-4	0.042
18	12094232	C	G	18	12094233	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon1:c.C216G:p.N72K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.C216G:p.N72K;ENSG00000181626:ENST00000314074:exon1:c.C174G:p.N58K;	6.80601586741738E-4	0.036
18	12094232	C	T	18	12094233	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon1:c.C216T:p.N72N;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.C216T:p.N72N;ENSG00000181626:ENST00000314074:exon1:c.C174T:p.N58N;	4.28039206683205E-4	0.034
18	12094233	A	C	18	12094234	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon1:c.A217C:p.R73R;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.A217C:p.R73R;ENSG00000181626:ENST00000314074:exon1:c.A175C:p.R59R;	0.132304420329304	0.466
18	12094233	A	G	18	12094234	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon1:c.A217G:p.R73G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.A217G:p.R73G;ENSG00000181626:ENST00000314074:exon1:c.A175G:p.R59G;	0.60118744684374	0.558
18	12094233	A	T	18	12094234	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon1:c.A217T:p.R73W;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.A217T:p.R73W;ENSG00000181626:ENST00000314074:exon1:c.A175T:p.R59W;	0.478066391968829	0.458
18	12094234	G	A	18	12094235	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon1:c.G218A:p.R73K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.G218A:p.R73K;ENSG00000181626:ENST00000314074:exon1:c.G176A:p.R59K;	0.984503703159565	0.868
18	12094234	G	C	18	12094235	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon1:c.G218C:p.R73T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.G218C:p.R73T;ENSG00000181626:ENST00000314074:exon1:c.G176C:p.R59T;	0.997798527646754	0.92
18	12094234	G	T	18	12094235	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon1:c.G218T:p.R73M;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon1:c.G218T:p.R73M;ENSG00000181626:ENST00000314074:exon1:c.G176T:p.R59M;	0.998198210947421	0.932
18	12094235	G	A	18	12094236	y	y	splicing	ANKRD62(NM_001277333:exon1:c.218+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon1:c.218+1G>A;ENST00000314074:exon1:c.176+1G>A)	.	.	0.999979529203891	0.762
18	12094235	G	C	18	12094236	y	y	splicing	ANKRD62(NM_001277333:exon1:c.218+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon1:c.218+1G>C;ENST00000314074:exon1:c.176+1G>C)	.	.	0.999983134235584	0.764
18	12094235	G	T	18	12094236	y	y	splicing	ANKRD62(NM_001277333:exon1:c.218+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon1:c.218+1G>T;ENST00000314074:exon1:c.176+1G>T)	.	.	0.999979529203891	0.762
18	12094236	T	A	18	12094237	y	y	splicing	ANKRD62(NM_001277333:exon1:c.218+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon1:c.218+2T>A;ENST00000314074:exon1:c.176+2T>A)	.	.	0.999962956133083	0.77
18	12094236	T	C	18	12094237	y	y	splicing	ANKRD62(NM_001277333:exon1:c.218+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon1:c.218+2T>C;ENST00000314074:exon1:c.176+2T>C)	.	.	0.948690868985134	0.46
18	12094236	T	G	18	12094237	y	y	splicing	ANKRD62(NM_001277333:exon1:c.218+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon1:c.218+2T>G;ENST00000314074:exon1:c.176+2T>G)	.	.	0.99996947969426	0.774
18	12094237	A	C	18	12094238	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.112558393282241	0.302
18	12094237	A	G	18	12094238	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.76023374426611E-4	0.008
18	12094237	A	T	18	12094238	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0587087315691154	0.278
18	12094238	A	C	18	12094239	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0613779311752786	0.396
18	12094238	A	G	18	12094239	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.297375582989414	0.448
18	12094238	A	T	18	12094239	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.124668097198525	0.38
18	12094239	G	A	18	12094240	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.400168916541965	0.436
18	12094239	G	C	18	12094240	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.157845249219624	0.428
18	12094239	G	T	18	12094240	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.315354835406108	0.396
18	12094240	G	A	18	12094241	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.50180289285804E-5	0.002
18	12094240	G	C	18	12094241	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.90906864213138E-5	0.006
18	12094240	G	T	18	12094241	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.09023437272714E-6	0.006
18	12094241	G	A	18	12094242	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.43054530096702E-5	0.006
18	12094241	G	C	18	12094242	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.4896656044785E-6	0.0
18	12094241	G	T	18	12094242	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.83606412724366E-5	0.0
18	12094242	G	A	18	12094243	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.25168960799101E-4	0.064
18	12094242	G	C	18	12094243	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.48841336680968E-5	0.01
18	12094242	G	T	18	12094243	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.25168960799101E-4	0.036
18	12095158	T	A	18	12095159	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0417324865014403	0.248
18	12095158	T	C	18	12095159	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.26193359253895E-4	0.002
18	12095158	T	G	18	12095159	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.053838933482517	0.274
18	12095159	C	A	18	12095160	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.28676796480792E-4	0.044
18	12095159	C	G	18	12095160	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.33344292978901E-4	0.066
18	12095159	C	T	18	12095160	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.42459840573998E-5	0.006
18	12095160	A	C	18	12095161	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.81829945220082E-6	0.004
18	12095160	A	G	18	12095161	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.64826871625043E-5	0.004
18	12095160	A	T	18	12095161	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.47226774734786E-5	0.004
18	12095161	T	A	18	12095162	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.77133189002943E-4	0.06
18	12095161	T	C	18	12095162	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.01336648665645E-4	0.0
18	12095161	T	G	18	12095162	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.997479900494028	0.96
18	12095162	T	A	18	12095163	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00136739526369192	0.13
18	12095162	T	C	18	12095163	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.25663906434802E-4	0.042
18	12095162	T	G	18	12095163	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00116361800249076	0.112
18	12095163	C	A	18	12095164	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.0555729267322E-4	0.07
18	12095163	C	G	18	12095164	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.55568423625313E-5	0.056
18	12095163	C	T	18	12095164	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.71899115502741E-5	0.004
18	12095164	T	A	18	12095165	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00103066869430748	0.106
18	12095164	T	C	18	12095165	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.84735279224688E-5	0.014
18	12095164	T	G	18	12095165	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00236013530051955	0.14
18	12095165	C	A	18	12095166	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.07102961497438E-4	0.05
18	12095165	C	G	18	12095166	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.62470599993481E-4	0.034
18	12095165	C	T	18	12095166	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.99318447779277E-6	0.0
18	12095166	A	C	18	12095167	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.49598222551871E-5	0.002
18	12095166	A	G	18	12095167	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.89851264391624E-5	0.008
18	12095166	A	T	18	12095167	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.1480782561576E-4	0.006
18	12095167	C	A	18	12095168	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.189930454969841	0.326
18	12095167	C	G	18	12095168	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.988833394535518	0.748
18	12095167	C	T	18	12095168	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.0791375257473E-4	0.004
18	12095168	A	C	18	12095169	y	y	splicing	ANKRD62(NM_001277333:exon2:c.219-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.219-2A>C;ENST00000314074:exon2:c.177-2A>C)	.	.	0.999962956133083	0.77
18	12095168	A	G	18	12095169	y	y	splicing	ANKRD62(NM_001277333:exon2:c.219-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.219-2A>G;ENST00000314074:exon2:c.177-2A>G)	.	.	0.999962956133083	0.77
18	12095168	A	T	18	12095169	y	y	splicing	ANKRD62(NM_001277333:exon2:c.219-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.219-2A>T;ENST00000314074:exon2:c.177-2A>T)	.	.	0.999962956133083	0.768
18	12095169	G	A	18	12095170	y	y	splicing	ANKRD62(NM_001277333:exon2:c.219-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.219-1G>A;ENST00000314074:exon2:c.177-1G>A)	.	.	0.999971596609132	0.766
18	12095169	G	C	18	12095170	y	y	splicing	ANKRD62(NM_001277333:exon2:c.219-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.219-1G>C;ENST00000314074:exon2:c.177-1G>C)	.	.	0.999962956133083	0.768
18	12095169	G	T	18	12095170	y	y	splicing	ANKRD62(NM_001277333:exon2:c.219-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.219-1G>T;ENST00000314074:exon2:c.177-1G>T)	.	.	0.999962956133083	0.766
18	12095170	G	A	18	12095171	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon2:c.G219A:p.R73R;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.G219A:p.R73R;ENSG00000181626:ENST00000314074:exon2:c.G177A:p.R59R;	0.0132351697220397	0.256
18	12095170	G	C	18	12095171	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.G219C:p.R73S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.G219C:p.R73S;ENSG00000181626:ENST00000314074:exon2:c.G177C:p.R59S;	0.746095995887392	0.688
18	12095170	G	T	18	12095171	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.G219T:p.R73S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.G219T:p.R73S;ENSG00000181626:ENST00000314074:exon2:c.G177T:p.R59S;	0.990591427352578	0.844
18	12095171	A	C	18	12095172	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.A220C:p.T74P;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.A220C:p.T74P;ENSG00000181626:ENST00000314074:exon2:c.A178C:p.T60P;	0.00848628130470275	0.134
18	12095171	A	G	18	12095172	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.A220G:p.T74A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.A220G:p.T74A;ENSG00000181626:ENST00000314074:exon2:c.A178G:p.T60A;	0.0191005436754565	0.104
18	12095171	A	T	18	12095172	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.A220T:p.T74S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.A220T:p.T74S;ENSG00000181626:ENST00000314074:exon2:c.A178T:p.T60S;	0.0249671300130352	0.14
18	12095282	A	C	18	12095283	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.A331C:p.K111Q;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.A331C:p.K111Q;ENSG00000181626:ENST00000314074:exon2:c.A289C:p.K97Q;	0.01271074135434	0.096
18	12095282	A	G	18	12095283	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.A331G:p.K111E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.A331G:p.K111E;ENSG00000181626:ENST00000314074:exon2:c.A289G:p.K97E;	0.0033235032069651	0.16
18	12095282	A	T	18	12095283	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon2:c.A331T:p.K111X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon2:c.A331T:p.K111X;ENSG00000181626:ENST00000314074:exon2:c.A289T:p.K97X;	0.650777475744081	0.662
18	12095283	A	C	18	12095284	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.A332C:p.K111T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.A332C:p.K111T;ENSG00000181626:ENST00000314074:exon2:c.A290C:p.K97T;	0.996883411442039	0.922
18	12095283	A	G	18	12095284	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.A332G:p.K111R;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.A332G:p.K111R;ENSG00000181626:ENST00000314074:exon2:c.A290G:p.K97R;	0.999714277625522	0.98
18	12095283	A	T	18	12095284	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.A332T:p.K111M;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.A332T:p.K111M;ENSG00000181626:ENST00000314074:exon2:c.A290T:p.K97M;	0.998862041767374	0.974
18	12095284	G	A	18	12095285	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon2:c.G333A:p.K111K;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.G333A:p.K111K;ENSG00000181626:ENST00000314074:exon2:c.G291A:p.K97K;	0.999988672143794	0.97
18	12095284	G	C	18	12095285	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.G333C:p.K111N;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.G333C:p.K111N;ENSG00000181626:ENST00000314074:exon2:c.G291C:p.K97N;	0.999992210933333	0.986
18	12095284	G	T	18	12095285	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon2:c.G333T:p.K111N;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon2:c.G333T:p.K111N;ENSG00000181626:ENST00000314074:exon2:c.G291T:p.K97N;	0.999988289671094	0.99
18	12095285	G	A	18	12095286	y	y	splicing	ANKRD62(NM_001277333:exon2:c.333+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.333+1G>A;ENST00000314074:exon2:c.291+1G>A)	.	.	0.999944025356209	0.86
18	12095285	G	C	18	12095286	y	y	splicing	ANKRD62(NM_001277333:exon2:c.333+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.333+1G>C;ENST00000314074:exon2:c.291+1G>C)	.	.	0.999932560434043	0.836
18	12095285	G	T	18	12095286	y	y	splicing	ANKRD62(NM_001277333:exon2:c.333+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.333+1G>T;ENST00000314074:exon2:c.291+1G>T)	.	.	0.999932560434043	0.854
18	12095286	T	A	18	12095287	y	y	splicing	ANKRD62(NM_001277333:exon2:c.333+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.333+2T>A;ENST00000314074:exon2:c.291+2T>A)	.	.	0.999944857457982	0.86
18	12095286	T	C	18	12095287	y	y	splicing	ANKRD62(NM_001277333:exon2:c.333+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.333+2T>C;ENST00000314074:exon2:c.291+2T>C)	.	.	0.919580147405458	0.556
18	12095286	T	G	18	12095287	y	y	splicing	ANKRD62(NM_001277333:exon2:c.333+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon2:c.333+2T>G;ENST00000314074:exon2:c.291+2T>G)	.	.	0.999932560434043	0.816
18	12095287	A	C	18	12095288	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999916886399578	0.896
18	12095287	A	G	18	12095288	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.995730999961565	0.724
18	12095287	A	T	18	12095288	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998580200569589	0.79
18	12095288	T	A	18	12095289	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.3243071559126E-4	0.116
18	12095288	T	C	18	12095289	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.36133557697692E-5	0.01
18	12095288	T	G	18	12095289	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.04171285738788E-6	0.002
18	12095289	A	C	18	12095290	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.04199545344234E-4	0.096
18	12095289	A	G	18	12095290	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.36419181703737E-5	0.0
18	12095289	A	T	18	12095290	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.09924398089244E-4	0.014
18	12095290	T	A	18	12095291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.65620602569312E-5	0.066
18	12095290	T	C	18	12095291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.28464491027029E-5	0.108
18	12095290	T	G	18	12095291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.72945356802986E-5	0.076
18	12095291	G	A	18	12095292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.25724884279396E-5	0.002
18	12095291	G	C	18	12095292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.25724884279396E-5	0.002
18	12095291	G	T	18	12095292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.17748779087443E-5	0.026
18	12095292	G	A	18	12095293	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.78423536057558E-4	0.014
18	12095292	G	C	18	12095293	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.2803073094906E-4	0.014
18	12095292	G	T	18	12095293	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.2803073094906E-4	0.014
18	12095424	T	A	18	12095425	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.373747535375084	0.444
18	12095424	T	C	18	12095425	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.79418771929874E-4	0.036
18	12095424	T	G	18	12095425	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.305445109247081	0.352
18	12095425	A	C	18	12095426	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.22597881926089E-5	0.012
18	12095425	A	G	18	12095426	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.01801949431936E-5	0.004
18	12095425	A	T	18	12095426	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.99066457732455E-5	0.09
18	12095426	A	C	18	12095427	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.54866780261749E-4	0.028
18	12095426	A	G	18	12095427	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999092905027903	0.948
18	12095426	A	T	18	12095427	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00337444095175418	0.044
18	12095427	T	A	18	12095428	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00842180061969792	0.222
18	12095427	T	C	18	12095428	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.38913181172697E-5	0.072
18	12095427	T	G	18	12095428	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999843687868648	0.932
18	12095428	A	C	18	12095429	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.68864314395462E-4	0.052
18	12095428	A	G	18	12095429	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.19978132815678E-4	0.02
18	12095428	A	T	18	12095429	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.68864314395462E-4	0.05
18	12095429	C	A	18	12095430	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00712762910314447	0.198
18	12095429	C	G	18	12095430	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999350897303819	0.968
18	12095429	C	T	18	12095430	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.41780619841177E-4	0.008
18	12095430	T	A	18	12095431	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998662045178062	0.91
18	12095430	T	C	18	12095431	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.26478445821783E-5	0.064
18	12095430	T	G	18	12095431	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.334788788820658	0.43
18	12095431	G	A	18	12095432	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.20363325875909E-4	0.054
18	12095431	G	C	18	12095432	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.62296910145963E-5	0.012
18	12095431	G	T	18	12095432	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.01705569775952E-4	0.042
18	12095432	A	C	18	12095433	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00129705941829345	0.022
18	12095432	A	G	18	12095433	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0011402095128843	0.022
18	12095432	A	T	18	12095433	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00319701342870145	0.046
18	12095433	C	A	18	12095434	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.976231001958919	0.862
18	12095433	C	G	18	12095434	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.992522905247728	0.706
18	12095433	C	T	18	12095434	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00708330448052112	0.208
18	12095434	A	C	18	12095435	y	y	splicing	ANKRD62(NM_001277333:exon3:c.334-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.334-2A>C;ENST00000314074:exon3:c.292-2A>C)	.	.	0.99963999480659	0.832
18	12095434	A	G	18	12095435	y	y	splicing	ANKRD62(NM_001277333:exon3:c.334-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.334-2A>G;ENST00000314074:exon3:c.292-2A>G)	.	.	0.99963999480659	0.83
18	12095434	A	T	18	12095435	y	y	splicing	ANKRD62(NM_001277333:exon3:c.334-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.334-2A>T;ENST00000314074:exon3:c.292-2A>T)	.	.	0.99980342366449	0.848
18	12095435	G	A	18	12095436	y	y	splicing	ANKRD62(NM_001277333:exon3:c.334-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.334-1G>A;ENST00000314074:exon3:c.292-1G>A)	.	.	0.99943997652681	0.85
18	12095435	G	C	18	12095436	y	y	splicing	ANKRD62(NM_001277333:exon3:c.334-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.334-1G>C;ENST00000314074:exon3:c.292-1G>C)	.	.	0.999448297528704	0.838
18	12095435	G	T	18	12095436	y	y	splicing	ANKRD62(NM_001277333:exon3:c.334-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.334-1G>T;ENST00000314074:exon3:c.292-1G>T)	.	.	0.99943997652681	0.84
18	12095436	G	A	18	12095437	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.G334A:p.A112T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.G334A:p.A112T;ENSG00000181626:ENST00000314074:exon3:c.G292A:p.A98T;	0.195209295178162	0.558
18	12095436	G	C	18	12095437	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.G334C:p.A112P;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.G334C:p.A112P;ENSG00000181626:ENST00000314074:exon3:c.G292C:p.A98P;	0.647753361883473	0.806
18	12095436	G	T	18	12095437	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.G334T:p.A112S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.G334T:p.A112S;ENSG00000181626:ENST00000314074:exon3:c.G292T:p.A98S;	0.854344929266976	0.802
18	12095437	C	A	18	12095438	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.C335A:p.A112D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.C335A:p.A112D;ENSG00000181626:ENST00000314074:exon3:c.C293A:p.A98D;	0.00223760926476416	0.102
18	12095437	C	G	18	12095438	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.C335G:p.A112G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.C335G:p.A112G;ENSG00000181626:ENST00000314074:exon3:c.C293G:p.A98G;	0.00117799054127216	0.116
18	12095437	C	T	18	12095438	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.C335T:p.A112V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.C335T:p.A112V;ENSG00000181626:ENST00000314074:exon3:c.C293T:p.A98V;	0.0679699953007856	0.372
18	12095607	C	A	18	12095608	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.C505A:p.Q169K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.C505A:p.Q169K;ENSG00000181626:ENST00000314074:exon3:c.C463A:p.Q155K;	8.43815306947257E-6	0.01
18	12095607	C	G	18	12095608	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.C505G:p.Q169E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.C505G:p.Q169E;ENSG00000181626:ENST00000314074:exon3:c.C463G:p.Q155E;	1.58312763046738E-4	0.022
18	12095607	C	T	18	12095608	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon3:c.C505T:p.Q169X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon3:c.C505T:p.Q169X;ENSG00000181626:ENST00000314074:exon3:c.C463T:p.Q155X;	0.0440229968065171	0.36
18	12095608	A	C	18	12095609	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.A506C:p.Q169P;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.A506C:p.Q169P;ENSG00000181626:ENST00000314074:exon3:c.A464C:p.Q155P;	0.79589260619542	0.576
18	12095608	A	G	18	12095609	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.A506G:p.Q169R;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.A506G:p.Q169R;ENSG00000181626:ENST00000314074:exon3:c.A464G:p.Q155R;	0.980059284590878	0.67
18	12095608	A	T	18	12095609	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.A506T:p.Q169L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.A506T:p.Q169L;ENSG00000181626:ENST00000314074:exon3:c.A464T:p.Q155L;	0.997404083204332	0.88
18	12095609	G	A	18	12095610	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon3:c.G507A:p.Q169Q;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.G507A:p.Q169Q;ENSG00000181626:ENST00000314074:exon3:c.G465A:p.Q155Q;	0.997182451921848	0.906
18	12095609	G	C	18	12095610	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.G507C:p.Q169H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.G507C:p.Q169H;ENSG00000181626:ENST00000314074:exon3:c.G465C:p.Q155H;	0.999932257925373	0.984
18	12095609	G	T	18	12095610	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon3:c.G507T:p.Q169H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon3:c.G507T:p.Q169H;ENSG00000181626:ENST00000314074:exon3:c.G465T:p.Q155H;	0.999787490349756	0.99
18	12095610	G	A	18	12095611	y	y	splicing	ANKRD62(NM_001277333:exon3:c.507+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.507+1G>A;ENST00000314074:exon3:c.465+1G>A)	.	.	0.999929575678921	0.76
18	12095610	G	C	18	12095611	y	y	splicing	ANKRD62(NM_001277333:exon3:c.507+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.507+1G>C;ENST00000314074:exon3:c.465+1G>C)	.	.	0.999941977319723	0.764
18	12095610	G	T	18	12095611	y	y	splicing	ANKRD62(NM_001277333:exon3:c.507+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.507+1G>T;ENST00000314074:exon3:c.465+1G>T)	.	.	0.999941977319723	0.764
18	12095611	T	A	18	12095612	y	y	splicing	ANKRD62(NM_001277333:exon3:c.507+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.507+2T>A;ENST00000314074:exon3:c.465+2T>A)	.	.	0.999962956133083	0.77
18	12095611	T	C	18	12095612	y	y	splicing	ANKRD62(NM_001277333:exon3:c.507+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.507+2T>C;ENST00000314074:exon3:c.465+2T>C)	.	.	0.929088881657644	0.472
18	12095611	T	G	18	12095612	y	y	splicing	ANKRD62(NM_001277333:exon3:c.507+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon3:c.507+2T>G;ENST00000314074:exon3:c.465+2T>G)	.	.	0.99996947969426	0.774
18	12095612	A	C	18	12095613	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998865408593818	0.716
18	12095612	A	G	18	12095613	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.99166462620275	0.758
18	12095612	A	T	18	12095613	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998781725362475	0.748
18	12095613	T	A	18	12095614	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.79787930552641E-5	0.112
18	12095613	T	C	18	12095614	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.41946419762177E-5	0.012
18	12095613	T	G	18	12095614	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.62372554749551E-5	0.006
18	12095614	G	A	18	12095615	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.588112740036397	0.426
18	12095614	G	C	18	12095615	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.883054943538273	0.504
18	12095614	G	T	18	12095615	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.701757037198343	0.476
18	12095615	A	C	18	12095616	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.21715693064766E-4	0.028
18	12095615	A	G	18	12095616	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.61250136763963E-5	0.004
18	12095615	A	T	18	12095616	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.15572738897894E-5	0.046
18	12095616	T	A	18	12095617	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.44401018837748E-5	0.0
18	12095616	T	C	18	12095617	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.44401018837748E-5	0.0
18	12095616	T	G	18	12095617	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.17486155721189E-5	0.0
18	12095617	C	A	18	12095618	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.13806764536946E-5	0.0
18	12095617	C	G	18	12095618	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.13806764536946E-5	0.0
18	12095617	C	T	18	12095618	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.78596454976996E-5	0.0
18	12096183	G	A	18	12096184	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.5200716652213E-5	0.0
18	12096183	G	C	18	12096184	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.50313139467903E-5	0.0
18	12096183	G	T	18	12096184	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.98363479083329E-5	0.004
18	12096184	C	A	18	12096185	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.65897113209012E-4	0.068
18	12096184	C	G	18	12096185	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.75765572673425E-4	0.016
18	12096184	C	T	18	12096185	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.6069127464716E-4	0.0
18	12096185	T	A	18	12096186	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.99984035911323	0.952
18	12096185	T	C	18	12096186	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.16262572309879E-5	0.006
18	12096185	T	G	18	12096186	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00382570690578756	0.236
18	12096186	G	A	18	12096187	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.20921004741362E-5	0.004
18	12096186	G	C	18	12096187	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.93523193064664E-5	0.008
18	12096186	G	T	18	12096187	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.7644612946612E-5	0.002
18	12096187	T	A	18	12096188	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.50827175581696E-4	0.082
18	12096187	T	C	18	12096188	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.67324371283702E-5	0.01
18	12096187	T	G	18	12096188	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.45085884023229E-4	0.058
18	12096188	T	A	18	12096189	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0630309137591023	0.218
18	12096188	T	C	18	12096189	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.95450640374874E-4	0.016
18	12096188	T	G	18	12096189	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00701333254638581	0.228
18	12096189	T	A	18	12096190	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.628470727423211	0.488
18	12096189	T	C	18	12096190	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.13020503883355E-4	0.016
18	12096189	T	G	18	12096190	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.59654231125723	0.486
18	12096190	T	A	18	12096191	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999051769241296	0.838
18	12096190	T	C	18	12096191	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.22961507951552E-5	0.008
18	12096190	T	G	18	12096191	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.393010319295625	0.396
18	12096191	G	A	18	12096192	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.42667640437471E-5	0.002
18	12096191	G	C	18	12096192	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.40614878539759E-5	0.018
18	12096191	G	T	18	12096192	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.17486155721189E-5	0.0
18	12096192	C	A	18	12096193	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.415875485279828	0.55
18	12096192	C	G	18	12096193	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999056310800507	0.932
18	12096192	C	T	18	12096193	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00595016379554618	0.184
18	12096193	A	C	18	12096194	y	y	splicing	ANKRD62(NM_001277333:exon4:c.508-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.508-2A>C;ENST00000314074:exon4:c.466-2A>C)	.	.	0.99996947969426	0.736
18	12096193	A	G	18	12096194	y	y	splicing	ANKRD62(NM_001277333:exon4:c.508-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.508-2A>G;ENST00000314074:exon4:c.466-2A>G)	.	.	0.99996947969426	0.736
18	12096193	A	T	18	12096194	y	y	splicing	ANKRD62(NM_001277333:exon4:c.508-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.508-2A>T;ENST00000314074:exon4:c.466-2A>T)	.	.	0.99996947969426	0.75
18	12096194	G	A	18	12096195	y	y	splicing	ANKRD62(NM_001277333:exon4:c.508-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.508-1G>A;ENST00000314074:exon4:c.466-1G>A)	.	.	0.99996947969426	0.734
18	12096194	G	C	18	12096195	y	y	splicing	ANKRD62(NM_001277333:exon4:c.508-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.508-1G>C;ENST00000314074:exon4:c.466-1G>C)	.	.	0.99996947969426	0.724
18	12096194	G	T	18	12096195	y	y	splicing	ANKRD62(NM_001277333:exon4:c.508-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.508-1G>T;ENST00000314074:exon4:c.466-1G>T)	.	.	0.99996947969426	0.724
18	12096195	G	A	18	12096196	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.G508A:p.D170N;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.G508A:p.D170N;ENSG00000181626:ENST00000314074:exon4:c.G466A:p.D156N;	3.4772878570189E-4	0.128
18	12096195	G	C	18	12096196	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.G508C:p.D170H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.G508C:p.D170H;ENSG00000181626:ENST00000314074:exon4:c.G466C:p.D156H;	0.00395287324831089	0.2
18	12096195	G	T	18	12096196	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.G508T:p.D170Y;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.G508T:p.D170Y;ENSG00000181626:ENST00000314074:exon4:c.G466T:p.D156Y;	0.229025491645385	0.448
18	12096196	A	C	18	12096197	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.A509C:p.D170A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.A509C:p.D170A;ENSG00000181626:ENST00000314074:exon4:c.A467C:p.D156A;	1.75964209073859E-5	0.044
18	12096196	A	G	18	12096197	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.A509G:p.D170G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.A509G:p.D170G;ENSG00000181626:ENST00000314074:exon4:c.A467G:p.D156G;	2.39391192193842E-5	0.042
18	12096196	A	T	18	12096197	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.A509T:p.D170V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.A509T:p.D170V;ENSG00000181626:ENST00000314074:exon4:c.A467T:p.D156V;	7.88765226211698E-6	0.034
18	12096299	A	C	18	12096300	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon4:c.A612C:p.G204G;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.A612C:p.G204G;ENSG00000181626:ENST00000314074:exon4:c.A570C:p.G190G;	2.09575260487198E-4	0.008
18	12096299	A	G	18	12096300	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon4:c.A612G:p.G204G;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.A612G:p.G204G;ENSG00000181626:ENST00000314074:exon4:c.A570G:p.G190G;	8.2008377540791E-4	0.082
18	12096299	A	T	18	12096300	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon4:c.A612T:p.G204G;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.A612T:p.G204G;ENSG00000181626:ENST00000314074:exon4:c.A570T:p.G190G;	0.940141564585651	0.558
18	12096300	A	C	18	12096301	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon4:c.A613C:p.R205R;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.A613C:p.R205R;ENSG00000181626:ENST00000314074:exon4:c.A571C:p.R191R;	0.982198128024872	0.774
18	12096300	A	G	18	12096301	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.A613G:p.R205G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.A613G:p.R205G;ENSG00000181626:ENST00000314074:exon4:c.A571G:p.R191G;	0.99577990183032	0.934
18	12096300	A	T	18	12096301	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon4:c.A613T:p.R205X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon4:c.A613T:p.R205X;ENSG00000181626:ENST00000314074:exon4:c.A571T:p.R191X;	0.999859891847217	0.972
18	12096301	G	A	18	12096302	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.G614A:p.R205K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.G614A:p.R205K;ENSG00000181626:ENST00000314074:exon4:c.G572A:p.R191K;	0.999993947083976	0.98
18	12096301	G	C	18	12096302	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.G614C:p.R205T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.G614C:p.R205T;ENSG00000181626:ENST00000314074:exon4:c.G572C:p.R191T;	0.999988169909905	0.98
18	12096301	G	T	18	12096302	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon4:c.G614T:p.R205I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon4:c.G614T:p.R205I;ENSG00000181626:ENST00000314074:exon4:c.G572T:p.R191I;	0.999992374038831	0.986
18	12096302	G	A	18	12096303	y	y	splicing	ANKRD62(NM_001277333:exon4:c.614+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.614+1G>A;ENST00000314074:exon4:c.572+1G>A)	.	.	0.999959039041633	0.766
18	12096302	G	C	18	12096303	y	y	splicing	ANKRD62(NM_001277333:exon4:c.614+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.614+1G>C;ENST00000314074:exon4:c.572+1G>C)	.	.	0.999959039041633	0.766
18	12096302	G	T	18	12096303	y	y	splicing	ANKRD62(NM_001277333:exon4:c.614+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.614+1G>T;ENST00000314074:exon4:c.572+1G>T)	.	.	0.999959039041633	0.766
18	12096303	T	A	18	12096304	y	y	splicing	ANKRD62(NM_001277333:exon4:c.614+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.614+2T>A;ENST00000314074:exon4:c.572+2T>A)	.	.	0.9999535374451	0.772
18	12096303	T	C	18	12096304	y	y	splicing	ANKRD62(NM_001277333:exon4:c.614+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.614+2T>C;ENST00000314074:exon4:c.572+2T>C)	.	.	0.947006427659371	0.482
18	12096303	T	G	18	12096304	y	y	splicing	ANKRD62(NM_001277333:exon4:c.614+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon4:c.614+2T>G;ENST00000314074:exon4:c.572+2T>G)	.	.	0.9999535374451	0.77
18	12096304	A	C	18	12096305	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998934950767749	0.616
18	12096304	A	G	18	12096305	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.783150422049004	0.552
18	12096304	A	T	18	12096305	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.997355659907725	0.604
18	12096305	C	A	18	12096306	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.93754903169837E-5	0.15
18	12096305	C	G	18	12096306	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.09899061381711E-5	0.086
18	12096305	C	T	18	12096306	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.29721340971475E-4	0.06
18	12096306	A	C	18	12096307	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.64507071602103E-5	0.012
18	12096306	A	G	18	12096307	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.87317937942043E-5	0.002
18	12096306	A	T	18	12096307	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.73665152166396E-4	0.052
18	12096307	G	A	18	12096308	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.57091833739156E-5	0.01
18	12096307	G	C	18	12096308	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.03642723094961E-5	0.002
18	12096307	G	T	18	12096308	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.86818867955298E-5	0.02
18	12096308	T	A	18	12096309	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.10462366595955E-4	0.06
18	12096308	T	C	18	12096309	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.75691350492924E-4	0.024
18	12096308	T	G	18	12096309	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.03854639956823E-4	0.026
18	12096309	A	C	18	12096310	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.49601011130289E-5	0.044
18	12096309	A	G	18	12096310	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.20701184337858E-5	0.006
18	12096309	A	T	18	12096310	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.74895860818317E-5	0.062
18	12097627	T	A	18	12097628	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.13245671885382E-4	0.062
18	12097627	T	C	18	12097628	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.77213269734653E-5	0.002
18	12097627	T	G	18	12097628	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.4149880767659E-4	0.072
18	12097628	T	A	18	12097629	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0126869304259224	0.27
18	12097628	T	C	18	12097629	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00100168840271276	0.074
18	12097628	T	G	18	12097629	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0144809184024237	0.172
18	12097629	C	A	18	12097630	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.36676279117122E-4	0.052
18	12097629	C	G	18	12097630	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.04477448968367E-4	0.038
18	12097629	C	T	18	12097630	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.36872976877809E-5	0.01
18	12097630	T	A	18	12097631	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.75076196579688E-4	0.116
18	12097630	T	C	18	12097631	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.30651613985019E-4	0.01
18	12097630	T	G	18	12097631	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.32384926820238E-4	0.164
18	12097631	T	A	18	12097632	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.38645495794217E-4	0.068
18	12097631	T	C	18	12097632	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.11295562972849E-5	0.026
18	12097631	T	G	18	12097632	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.8084744512421E-4	0.072
18	12097632	A	C	18	12097633	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.25690827586018E-5	0.0
18	12097632	A	G	18	12097633	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.5636934292156E-5	0.002
18	12097632	A	T	18	12097633	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.86373820096481E-5	0.0
18	12097633	T	A	18	12097634	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0112177066317336	0.088
18	12097633	T	C	18	12097634	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.43537530601737E-4	0.008
18	12097633	T	G	18	12097634	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999852029917711	0.978
18	12097634	T	A	18	12097635	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0319762014742055	0.306
18	12097634	T	C	18	12097635	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00305770979537642	0.066
18	12097634	T	G	18	12097635	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.348440012990757	0.368
18	12097635	T	A	18	12097636	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.10043841717551E-4	0.02
18	12097635	T	C	18	12097636	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.16664191203132E-4	0.018
18	12097635	T	G	18	12097636	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.18254387181864E-4	0.004
18	12097636	T	A	18	12097637	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0350533183559284	0.242
18	12097636	T	C	18	12097637	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.13382047688377E-4	0.03
18	12097636	T	G	18	12097637	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.984741339900702	0.672
18	12097637	A	C	18	12097638	y	y	splicing	ANKRD62(NM_001277333:exon5:c.615-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.615-2A>C;ENST00000314074:exon5:c.573-2A>C)	.	.	0.99996405191659	0.744
18	12097637	A	G	18	12097638	y	y	splicing	ANKRD62(NM_001277333:exon5:c.615-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.615-2A>G;ENST00000314074:exon5:c.573-2A>G)	.	.	0.99996405191659	0.75
18	12097637	A	T	18	12097638	y	y	splicing	ANKRD62(NM_001277333:exon5:c.615-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.615-2A>T;ENST00000314074:exon5:c.573-2A>T)	.	.	0.99996405191659	0.784
18	12097638	G	A	18	12097639	y	y	splicing	ANKRD62(NM_001277333:exon5:c.615-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.615-1G>A;ENST00000314074:exon5:c.573-1G>A)	.	.	0.99996405191659	0.752
18	12097638	G	C	18	12097639	y	y	splicing	ANKRD62(NM_001277333:exon5:c.615-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.615-1G>C;ENST00000314074:exon5:c.573-1G>C)	.	.	0.999971596609132	0.768
18	12097638	G	T	18	12097639	y	y	splicing	ANKRD62(NM_001277333:exon5:c.615-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.615-1G>T;ENST00000314074:exon5:c.573-1G>T)	.	.	0.99996405191659	0.746
18	12097639	A	C	18	12097640	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.A615C:p.R205S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A615C:p.R205S;ENSG00000181626:ENST00000314074:exon5:c.A573C:p.R191S;	6.5973838450429E-4	0.03
18	12097639	A	G	18	12097640	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon5:c.A615G:p.R205R;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A615G:p.R205R;ENSG00000181626:ENST00000314074:exon5:c.A573G:p.R191R;	3.36536662488319E-4	0.004
18	12097639	A	T	18	12097640	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.A615T:p.R205S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A615T:p.R205S;ENSG00000181626:ENST00000314074:exon5:c.A573T:p.R191S;	0.00129942051627439	0.108
18	12097640	A	C	18	12097641	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.A616C:p.T206P;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A616C:p.T206P;ENSG00000181626:ENST00000314074:exon5:c.A574C:p.T192P;	0.00332340860536417	0.014
18	12097640	A	G	18	12097641	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.A616G:p.T206A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A616G:p.T206A;ENSG00000181626:ENST00000314074:exon5:c.A574G:p.T192A;	0.0026387431235994	0.1
18	12097640	A	T	18	12097641	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.A616T:p.T206S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A616T:p.T206S;ENSG00000181626:ENST00000314074:exon5:c.A574T:p.T192S;	7.55661440818457E-4	0.006
18	12097774	A	C	18	12097775	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.A750C:p.Q250H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A750C:p.Q250H;ENSG00000181626:ENST00000314074:exon5:c.A708C:p.Q236H;	5.46057401757631E-5	0.0
18	12097774	A	G	18	12097775	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon5:c.A750G:p.Q250Q;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A750G:p.Q250Q;ENSG00000181626:ENST00000314074:exon5:c.A708G:p.Q236Q;	9.94497168395384E-6	0.0
18	12097774	A	T	18	12097775	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.A750T:p.Q250H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.A750T:p.Q250H;ENSG00000181626:ENST00000314074:exon5:c.A708T:p.Q236H;	5.06462790869324E-4	0.07
18	12097775	G	A	18	12097776	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.G751A:p.A251T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.G751A:p.A251T;ENSG00000181626:ENST00000314074:exon5:c.G709A:p.A237T;	1.71359245485994E-4	0.116
18	12097775	G	C	18	12097776	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.G751C:p.A251P;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.G751C:p.A251P;ENSG00000181626:ENST00000314074:exon5:c.G709C:p.A237P;	1.02626910732484E-4	0.0
18	12097775	G	T	18	12097776	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.G751T:p.A251S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.G751T:p.A251S;ENSG00000181626:ENST00000314074:exon5:c.G709T:p.A237S;	1.01587976704276E-4	0.0
18	12097776	C	A	18	12097777	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.C752A:p.A251D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.C752A:p.A251D;ENSG00000181626:ENST00000314074:exon5:c.C710A:p.A237D;	1.61816379477981E-5	0.0
18	12097776	C	G	18	12097777	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.C752G:p.A251G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.C752G:p.A251G;ENSG00000181626:ENST00000314074:exon5:c.C710G:p.A237G;	4.11051780605253E-5	0.148
18	12097776	C	T	18	12097777	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon5:c.C752T:p.A251V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon5:c.C752T:p.A251V;ENSG00000181626:ENST00000314074:exon5:c.C710T:p.A237V;	1.04565966868276E-4	0.004
18	12097777	G	A	18	12097778	y	y	splicing	ANKRD62(NM_001277333:exon5:c.752+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.752+1G>A;ENST00000314074:exon5:c.710+1G>A)	.	.	0.999976402271662	0.576
18	12097777	G	C	18	12097778	y	y	splicing	ANKRD62(NM_001277333:exon5:c.752+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.752+1G>C;ENST00000314074:exon5:c.710+1G>C)	.	.	0.999947761223677	0.582
18	12097777	G	T	18	12097778	y	y	splicing	ANKRD62(NM_001277333:exon5:c.752+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.752+1G>T;ENST00000314074:exon5:c.710+1G>T)	.	.	0.999947761223677	0.566
18	12097778	T	A	18	12097779	y	y	splicing	ANKRD62(NM_001277333:exon5:c.752+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.752+2T>A;ENST00000314074:exon5:c.710+2T>A)	.	.	0.99996947969426	0.754
18	12097778	T	C	18	12097779	y	y	splicing	ANKRD62(NM_001277333:exon5:c.752+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.752+2T>C;ENST00000314074:exon5:c.710+2T>C)	.	.	0.840708908947011	0.5
18	12097778	T	G	18	12097779	y	y	splicing	ANKRD62(NM_001277333:exon5:c.752+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon5:c.752+2T>G;ENST00000314074:exon5:c.710+2T>G)	.	.	0.99996947969426	0.752
18	12097779	A	C	18	12097780	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.99700128831038	0.86
18	12097779	A	G	18	12097780	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.65874076377161E-4	0.106
18	12097779	A	T	18	12097780	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999651128919142	0.814
18	12097780	A	C	18	12097781	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.833395908737327	0.574
18	12097780	A	G	18	12097781	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.9924618169795	0.702
18	12097780	A	T	18	12097781	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.99309799338437	0.658
18	12097781	G	A	18	12097782	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999984624557845	0.878
18	12097781	G	C	18	12097782	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999975423125654	0.854
18	12097781	G	T	18	12097782	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999970564463582	0.884
18	12097782	T	A	18	12097783	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.505925029385712	0.49
18	12097782	T	C	18	12097783	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.855363338162872	0.558
18	12097782	T	G	18	12097783	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.753146639523263	0.588
18	12097783	G	A	18	12097784	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.56278747745309E-5	0.004
18	12097783	G	C	18	12097784	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.28475376997949E-5	0.0
18	12097783	G	T	18	12097784	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.38999122542281E-5	0.002
18	12097784	T	A	18	12097785	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.61369086760533E-5	0.002
18	12097784	T	C	18	12097785	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.95311407513361E-6	0.022
18	12097784	T	G	18	12097785	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.04469657319062E-5	0.016
18	12099602	T	A	18	12099603	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.565900039511646	0.558
18	12099602	T	C	18	12099603	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0013867470775388	0.064
18	12099602	T	G	18	12099603	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.612350834679946	0.564
18	12099603	T	A	18	12099604	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.976718456814325	0.662
18	12099603	T	C	18	12099604	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0747184716109113	0.408
18	12099603	T	G	18	12099604	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.909029724149697	0.584
18	12099604	T	A	18	12099605	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999589330343499	0.958
18	12099604	T	C	18	12099605	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.13832705440416E-4	0.044
18	12099604	T	G	18	12099605	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.801696196839943	0.63
18	12099605	G	A	18	12099606	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.35973326244226E-5	0.02
18	12099605	G	C	18	12099606	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.72574789847114E-5	0.004
18	12099605	G	T	18	12099606	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.72574789847114E-5	0.016
18	12099606	A	C	18	12099607	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.97711633765577E-4	0.066
18	12099606	A	G	18	12099607	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.25680086209376E-4	0.026
18	12099606	A	T	18	12099607	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.69183046003557E-4	0.076
18	12099607	T	A	18	12099608	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00383020106404247	0.324
18	12099607	T	C	18	12099608	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.8814337006814E-5	0.012
18	12099607	T	G	18	12099608	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.869768816564881	0.77
18	12099608	A	C	18	12099609	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.61966415796203E-5	0.116
18	12099608	A	G	18	12099609	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.96534716039678E-5	0.026
18	12099608	A	T	18	12099609	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.8320421830976E-5	0.054
18	12099609	C	A	18	12099610	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.46763617272024E-5	0.142
18	12099609	C	G	18	12099610	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.997042859432241	0.602
18	12099609	C	T	18	12099610	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.99439250025237E-5	0.024
18	12099610	A	C	18	12099611	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.35494276697332E-5	0.028
18	12099610	A	G	18	12099611	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.70667351367536E-5	0.038
18	12099610	A	T	18	12099611	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.88710352371111E-4	0.03
18	12099611	T	A	18	12099612	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.659847357206855	0.392
18	12099611	T	C	18	12099612	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.70126327370091E-4	0.084
18	12099611	T	G	18	12099612	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.906076900212207	0.624
18	12099612	A	C	18	12099613	y	y	splicing	ANKRD62(NM_001277333:exon6:c.753-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.753-2A>C;ENST00000314074:exon6:c.711-2A>C)	.	.	0.999619755915597	0.766
18	12099612	A	G	18	12099613	y	y	splicing	ANKRD62(NM_001277333:exon6:c.753-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.753-2A>G;ENST00000314074:exon6:c.711-2A>G)	.	.	0.999619755915597	0.766
18	12099612	A	T	18	12099613	y	y	splicing	ANKRD62(NM_001277333:exon6:c.753-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.753-2A>T;ENST00000314074:exon6:c.711-2A>T)	.	.	0.999619755915597	0.764
18	12099613	G	A	18	12099614	y	y	splicing	ANKRD62(NM_001277333:exon6:c.753-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.753-1G>A;ENST00000314074:exon6:c.711-1G>A)	.	.	0.999664767084562	0.77
18	12099613	G	C	18	12099614	y	y	splicing	ANKRD62(NM_001277333:exon6:c.753-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.753-1G>C;ENST00000314074:exon6:c.711-1G>C)	.	.	0.999664767084562	0.758
18	12099613	G	T	18	12099614	y	y	splicing	ANKRD62(NM_001277333:exon6:c.753-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.753-1G>T;ENST00000314074:exon6:c.711-1G>T)	.	.	0.999664767084562	0.768
18	12099614	C	A	18	12099615	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon6:c.C753A:p.A251A;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.C753A:p.A251A;ENSG00000181626:ENST00000314074:exon6:c.C711A:p.A237A;	5.90497898402299E-5	0.014
18	12099614	C	G	18	12099615	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon6:c.C753G:p.A251A;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.C753G:p.A251A;ENSG00000181626:ENST00000314074:exon6:c.C711G:p.A237A;	2.49885170967681E-4	0.216
18	12099614	C	T	18	12099615	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon6:c.C753T:p.A251A;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.C753T:p.A251A;ENSG00000181626:ENST00000314074:exon6:c.C711T:p.A237A;	8.89786309417655E-4	0.062
18	12099615	A	C	18	12099616	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon6:c.A754C:p.I252L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.A754C:p.I252L;ENSG00000181626:ENST00000314074:exon6:c.A712C:p.I238L;	9.63506686410157E-4	0.06
18	12099615	A	G	18	12099616	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon6:c.A754G:p.I252V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.A754G:p.I252V;ENSG00000181626:ENST00000314074:exon6:c.A712G:p.I238V;	0.00395256978243596	0.046
18	12099615	A	T	18	12099616	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon6:c.A754T:p.I252F;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.A754T:p.I252F;ENSG00000181626:ENST00000314074:exon6:c.A712T:p.I238F;	0.00118541646328991	0.052
18	12099679	C	A	18	12099680	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon6:c.C818A:p.S273X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon6:c.C818A:p.S273X;ENSG00000181626:ENST00000314074:exon6:c.C776A:p.S259X;	1.05611737737983E-4	0.074
18	12099679	C	G	18	12099680	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon6:c.C818G:p.S273X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon6:c.C818G:p.S273X;ENSG00000181626:ENST00000314074:exon6:c.C776G:p.S259X;	3.67309846371472E-5	0.026
18	12099679	C	T	18	12099680	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon6:c.C818T:p.S273L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.C818T:p.S273L;ENSG00000181626:ENST00000314074:exon6:c.C776T:p.S259L;	0.00812971717151097	0.232
18	12099680	A	C	18	12099681	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon6:c.A819C:p.S273S;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.A819C:p.S273S;ENSG00000181626:ENST00000314074:exon6:c.A777C:p.S259S;	0.477379034851423	0.544
18	12099680	A	G	18	12099681	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon6:c.A819G:p.S273S;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.A819G:p.S273S;ENSG00000181626:ENST00000314074:exon6:c.A777G:p.S259S;	0.808773523785918	0.56
18	12099680	A	T	18	12099681	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon6:c.A819T:p.S273S;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.A819T:p.S273S;ENSG00000181626:ENST00000314074:exon6:c.A777T:p.S259S;	0.852206332838707	0.612
18	12099681	G	A	18	12099682	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon6:c.G820A:p.E274K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.G820A:p.E274K;ENSG00000181626:ENST00000314074:exon6:c.G778A:p.E260K;	0.999831325068345	0.992
18	12099681	G	C	18	12099682	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon6:c.G820C:p.E274Q;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon6:c.G820C:p.E274Q;ENSG00000181626:ENST00000314074:exon6:c.G778C:p.E260Q;	0.999990247289653	0.992
18	12099681	G	T	18	12099682	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon6:c.G820T:p.E274X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon6:c.G820T:p.E274X;ENSG00000181626:ENST00000314074:exon6:c.G778T:p.E260X;	0.999977528067938	0.992
18	12099682	G	A	18	12099683	y	y	splicing	ANKRD62(NM_001277333:exon6:c.820+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.820+1G>A;ENST00000314074:exon6:c.778+1G>A)	.	.	0.999992647284626	0.766
18	12099682	G	C	18	12099683	y	y	splicing	ANKRD62(NM_001277333:exon6:c.820+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.820+1G>C;ENST00000314074:exon6:c.778+1G>C)	.	.	0.999992647284626	0.766
18	12099682	G	T	18	12099683	y	y	splicing	ANKRD62(NM_001277333:exon6:c.820+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.820+1G>T;ENST00000314074:exon6:c.778+1G>T)	.	.	0.999992647284626	0.762
18	12099683	T	A	18	12099684	y	y	splicing	ANKRD62(NM_001277333:exon6:c.820+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.820+2T>A;ENST00000314074:exon6:c.778+2T>A)	.	.	0.99996947969426	0.764
18	12099683	T	C	18	12099684	y	y	splicing	ANKRD62(NM_001277333:exon6:c.820+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.820+2T>C;ENST00000314074:exon6:c.778+2T>C)	.	.	0.948690868985134	0.452
18	12099683	T	G	18	12099684	y	y	splicing	ANKRD62(NM_001277333:exon6:c.820+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon6:c.820+2T>G;ENST00000314074:exon6:c.778+2T>G)	.	.	0.99996947969426	0.764
18	12099684	A	C	18	12099685	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.995938163764515	0.724
18	12099684	A	G	18	12099685	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.963270834963503	0.684
18	12099684	A	T	18	12099685	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.997650383013142	0.764
18	12099685	T	A	18	12099686	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.10777275248778E-5	0.018
18	12099685	T	C	18	12099686	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.20427805990943E-5	0.0
18	12099685	T	G	18	12099686	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.59997101899944E-5	0.006
18	12099686	G	A	18	12099687	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.962741503411101	0.54
18	12099686	G	C	18	12099687	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.994045404703821	0.584
18	12099686	G	T	18	12099687	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.979670793047384	0.564
18	12099687	A	C	18	12099688	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.40155523532287E-4	0.018
18	12099687	A	G	18	12099688	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.22706303731384E-5	0.002
18	12099687	A	T	18	12099688	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.10599304659616E-5	0.012
18	12099688	C	A	18	12099689	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.7944217428889E-6	0.002
18	12099688	C	G	18	12099689	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.1124933177438E-5	0.002
18	12099688	C	T	18	12099689	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.0919877642589E-5	0.002
18	12099689	T	A	18	12099690	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.09082759739449E-5	0.002
18	12099689	T	C	18	12099690	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.7944217428889E-6	0.002
18	12099689	T	G	18	12099690	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.1124933177438E-5	0.002
18	12103145	A	C	18	12103146	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.52020876004271E-5	.
18	12103145	A	G	18	12103146	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.6411981705451E-5	.
18	12103145	A	T	18	12103146	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.11818762397707E-5	.
18	12103146	T	A	18	12103147	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.725485998664365	.
18	12103146	T	C	18	12103147	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.382664148604001	.
18	12103146	T	G	18	12103147	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.87927927144246	.
18	12103147	T	A	18	12103148	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.645429598048469	.
18	12103147	T	C	18	12103148	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.76534739258481E-5	.
18	12103147	T	G	18	12103148	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0306647304748296	.
18	12103148	T	A	18	12103149	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.897091663558375	.
18	12103148	T	C	18	12103149	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.95460159298618E-4	.
18	12103148	T	G	18	12103149	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.807583630450367	.
18	12103149	G	A	18	12103150	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.1657790792593E-4	.
18	12103149	G	C	18	12103150	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.40838932451953E-5	.
18	12103149	G	T	18	12103150	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.03272425293411E-5	.
18	12103150	T	A	18	12103151	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.872601148777515	.
18	12103150	T	C	18	12103151	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.83392601756351E-4	.
18	12103150	T	G	18	12103151	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.845907401602027	.
18	12103151	G	A	18	12103152	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.06892961322418E-4	.
18	12103151	G	C	18	12103152	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.40347652697844E-5	.
18	12103151	G	T	18	12103152	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.65047354028333E-5	.
18	12103152	A	C	18	12103153	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.29199676644387E-4	.
18	12103152	A	G	18	12103153	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.83021990487974E-4	.
18	12103152	A	T	18	12103153	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.70684705313098E-4	.
18	12103153	G	A	18	12103154	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.22394376943402E-5	.
18	12103153	G	C	18	12103154	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.13214807022E-6	.
18	12103153	G	T	18	12103154	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.00791178989886E-5	.
18	12103154	C	A	18	12103155	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.995083901009727	.
18	12103154	C	G	18	12103155	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.997753288564731	.
18	12103154	C	T	18	12103155	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.870892580400356	.
18	12103155	A	C	18	12103156	y	y	splicing	ANKRD62(NM_001277333:exon7:c.821-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.821-2A>C;ENST00000314074:exon7:c.779-2A>C)	.	.	0.988216143709408	.
18	12103155	A	G	18	12103156	y	y	splicing	ANKRD62(NM_001277333:exon7:c.821-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.821-2A>G;ENST00000314074:exon7:c.779-2A>G)	.	.	0.988216143709408	.
18	12103155	A	T	18	12103156	y	y	splicing	ANKRD62(NM_001277333:exon7:c.821-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.821-2A>T;ENST00000314074:exon7:c.779-2A>T)	.	.	0.988216143709408	.
18	12103156	G	A	18	12103157	y	y	splicing	ANKRD62(NM_001277333:exon7:c.821-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.821-1G>A;ENST00000314074:exon7:c.779-1G>A)	.	.	0.996423357750656	.
18	12103156	G	C	18	12103157	y	y	splicing	ANKRD62(NM_001277333:exon7:c.821-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.821-1G>C;ENST00000314074:exon7:c.779-1G>C)	.	.	0.996423357750656	.
18	12103156	G	T	18	12103157	y	y	splicing	ANKRD62(NM_001277333:exon7:c.821-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.821-1G>T;ENST00000314074:exon7:c.779-1G>T)	.	.	0.996423357750656	.
18	12103157	A	C	18	12103158	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.A821C:p.E274A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A821C:p.E274A;ENSG00000181626:ENST00000314074:exon7:c.A779C:p.E260A;	0.011426666573461	.
18	12103157	A	G	18	12103158	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.A821G:p.E274G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A821G:p.E274G;ENSG00000181626:ENST00000314074:exon7:c.A779G:p.E260G;	8.24740866313698E-4	.
18	12103157	A	T	18	12103158	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.A821T:p.E274V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A821T:p.E274V;ENSG00000181626:ENST00000314074:exon7:c.A779T:p.E260V;	0.0576019918159765	.
18	12103158	A	C	18	12103159	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.A822C:p.E274D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A822C:p.E274D;ENSG00000181626:ENST00000314074:exon7:c.A780C:p.E260D;	0.00120807878283415	.
18	12103158	A	G	18	12103159	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon7:c.A822G:p.E274E;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A822G:p.E274E;ENSG00000181626:ENST00000314074:exon7:c.A780G:p.E260E;	1.56496996516663E-4	.
18	12103158	A	T	18	12103159	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.A822T:p.E274D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A822T:p.E274D;ENSG00000181626:ENST00000314074:exon7:c.A780T:p.E260D;	0.00122533543152748	.
18	12103225	C	A	18	12103226	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.C889A:p.Q297K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.C889A:p.Q297K;ENSG00000181626:ENST00000314074:exon7:c.C847A:p.Q283K;	5.711348847165E-4	0.028
18	12103225	C	G	18	12103226	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.C889G:p.Q297E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.C889G:p.Q297E;ENSG00000181626:ENST00000314074:exon7:c.C847G:p.Q283E;	1.23584026720699E-4	0.022
18	12103225	C	T	18	12103226	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon7:c.C889T:p.Q297X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon7:c.C889T:p.Q297X;ENSG00000181626:ENST00000314074:exon7:c.C847T:p.Q283X;	0.212390622071727	0.412
18	12103226	A	C	18	12103227	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.A890C:p.Q297P;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A890C:p.Q297P;ENSG00000181626:ENST00000314074:exon7:c.A848C:p.Q283P;	0.0206565023522155	0.434
18	12103226	A	G	18	12103227	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.A890G:p.Q297R;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A890G:p.Q297R;ENSG00000181626:ENST00000314074:exon7:c.A848G:p.Q283R;	0.0129531033453864	0.336
18	12103226	A	T	18	12103227	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.A890T:p.Q297L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.A890T:p.Q297L;ENSG00000181626:ENST00000314074:exon7:c.A848T:p.Q283L;	0.0435482097420014	0.38
18	12103227	G	A	18	12103228	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon7:c.G891A:p.Q297Q;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.G891A:p.Q297Q;ENSG00000181626:ENST00000314074:exon7:c.G849A:p.Q283Q;	0.798823585260647	0.584
18	12103227	G	C	18	12103228	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.G891C:p.Q297H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.G891C:p.Q297H;ENSG00000181626:ENST00000314074:exon7:c.G849C:p.Q283H;	0.997683733725581	0.674
18	12103227	G	T	18	12103228	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon7:c.G891T:p.Q297H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon7:c.G891T:p.Q297H;ENSG00000181626:ENST00000314074:exon7:c.G849T:p.Q283H;	0.995649078178953	0.794
18	12103228	G	A	18	12103229	y	y	splicing	ANKRD62(NM_001277333:exon7:c.891+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.891+1G>A;ENST00000314074:exon7:c.849+1G>A)	.	.	0.99996947969426	0.726
18	12103228	G	C	18	12103229	y	y	splicing	ANKRD62(NM_001277333:exon7:c.891+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.891+1G>C;ENST00000314074:exon7:c.849+1G>C)	.	.	0.99996947969426	0.702
18	12103228	G	T	18	12103229	y	y	splicing	ANKRD62(NM_001277333:exon7:c.891+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.891+1G>T;ENST00000314074:exon7:c.849+1G>T)	.	.	0.99996947969426	0.724
18	12103229	T	A	18	12103230	y	y	splicing	ANKRD62(NM_001277333:exon7:c.891+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.891+2T>A;ENST00000314074:exon7:c.849+2T>A)	.	.	0.99996947969426	0.736
18	12103229	T	C	18	12103230	y	y	splicing	ANKRD62(NM_001277333:exon7:c.891+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.891+2T>C;ENST00000314074:exon7:c.849+2T>C)	.	.	0.840708908947011	0.51
18	12103229	T	G	18	12103230	y	y	splicing	ANKRD62(NM_001277333:exon7:c.891+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon7:c.891+2T>G;ENST00000314074:exon7:c.849+2T>G)	.	.	0.99996947969426	0.724
18	12103230	A	C	18	12103231	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.600381449861929	0.348
18	12103230	A	G	18	12103231	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00740225789950808	0.31
18	12103230	A	T	18	12103231	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.17111664587386	0.332
18	12103231	T	A	18	12103232	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.14899479007279E-5	0.092
18	12103231	T	C	18	12103232	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.43618967336623E-6	0.002
18	12103231	T	G	18	12103232	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.8900931505553E-5	0.004
18	12103232	G	A	18	12103233	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.745591871101002	0.42
18	12103232	G	C	18	12103233	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.838657085563137	0.538
18	12103232	G	T	18	12103233	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.624446330579455	0.446
18	12103233	T	A	18	12103234	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00441198158368488	0.2
18	12103233	T	C	18	12103234	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0156696033025283	0.284
18	12103233	T	G	18	12103234	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.34248140878459E-4	0.18
18	12103234	A	C	18	12103235	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.3004317960578E-5	0.0
18	12103234	A	G	18	12103235	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.74108293950862E-5	0.0
18	12103234	A	T	18	12103235	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.95768867081143E-5	0.0
18	12103235	A	C	18	12103236	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.27590401946391E-4	0.034
18	12103235	A	G	18	12103236	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.82729361132158E-4	0.054
18	12103235	A	T	18	12103236	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.27590401946391E-4	0.082
18	12107282	C	A	18	12107283	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.61813744719021E-5	0.052
18	12107282	C	G	18	12107283	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998862933398037	0.59
18	12107282	C	T	18	12107283	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.14241271549537E-5	0.002
18	12107283	T	A	18	12107284	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.56544331342867	0.57
18	12107283	T	C	18	12107284	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00724970567826076	0.212
18	12107283	T	G	18	12107284	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.502072770132619	0.528
18	12107284	T	A	18	12107285	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.156279450755595	0.504
18	12107284	T	C	18	12107285	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.93194807780444E-4	0.086
18	12107284	T	G	18	12107285	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.744961223674457	0.62
18	12107285	T	A	18	12107286	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0114966187499769	0.262
18	12107285	T	C	18	12107286	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.44905301423387E-5	0.062
18	12107285	T	G	18	12107286	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00937942917230307	0.28
18	12107286	C	A	18	12107287	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00163105019366373	0.104
18	12107286	C	G	18	12107287	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00907193285384357	0.164
18	12107286	C	T	18	12107287	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.40229415536936E-5	0.004
18	12107287	A	C	18	12107288	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.19864300451436E-5	0.01
18	12107287	A	G	18	12107288	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.35888889327813E-5	0.016
18	12107287	A	T	18	12107288	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.58080403853529E-5	0.024
18	12107288	T	A	18	12107289	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.234420056555379	0.514
18	12107288	T	C	18	12107289	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.63373776534375E-4	0.048
18	12107288	T	G	18	12107289	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999819710126416	0.964
18	12107289	T	A	18	12107290	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.976679081844074	0.79
18	12107289	T	C	18	12107290	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.03291865727354E-4	0.04
18	12107289	T	G	18	12107290	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0762471070079716	0.278
18	12107290	G	A	18	12107291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.75397490692595E-5	0.01
18	12107290	G	C	18	12107291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.6441550098945E-5	0.028
18	12107290	G	T	18	12107291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.37461761353638E-5	0.016
18	12107291	A	C	18	12107292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.0448700655717E-4	0.122
18	12107291	A	G	18	12107292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00986673170317273	0.334
18	12107291	A	T	18	12107292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.80788862337434E-5	0.024
18	12107292	A	C	18	12107293	y	y	splicing	ANKRD62(NM_001277333:exon8:c.892-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.892-2A>C;ENST00000314074:exon8:c.850-2A>C)	.	.	0.999918350337376	0.77
18	12107292	A	G	18	12107293	y	y	splicing	ANKRD62(NM_001277333:exon8:c.892-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.892-2A>G;ENST00000314074:exon8:c.850-2A>G)	.	.	0.999918350337376	0.768
18	12107292	A	T	18	12107293	y	y	splicing	ANKRD62(NM_001277333:exon8:c.892-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.892-2A>T;ENST00000314074:exon8:c.850-2A>T)	.	.	0.999918350337376	0.77
18	12107293	G	A	18	12107294	y	y	splicing	ANKRD62(NM_001277333:exon8:c.892-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.892-1G>A;ENST00000314074:exon8:c.850-1G>A)	.	.	0.999950060442999	0.604
18	12107293	G	C	18	12107294	y	y	splicing	ANKRD62(NM_001277333:exon8:c.892-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.892-1G>C;ENST00000314074:exon8:c.850-1G>C)	.	.	0.999889451310561	0.612
18	12107293	G	T	18	12107294	y	y	splicing	ANKRD62(NM_001277333:exon8:c.892-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.892-1G>T;ENST00000314074:exon8:c.850-1G>T)	.	.	0.999889451310561	0.592
18	12107294	G	A	18	12107295	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.G892A:p.V298I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.G892A:p.V298I;ENSG00000181626:ENST00000314074:exon8:c.G850A:p.V284I;	0.00244175986199118	0.106
18	12107294	G	C	18	12107295	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.G892C:p.V298L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.G892C:p.V298L;ENSG00000181626:ENST00000314074:exon8:c.G850C:p.V284L;	0.00266968641164716	0.17
18	12107294	G	T	18	12107295	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.G892T:p.V298F;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.G892T:p.V298F;ENSG00000181626:ENST00000314074:exon8:c.G850T:p.V284F;	0.349849784141456	0.31
18	12107295	T	A	18	12107296	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.T893A:p.V298D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.T893A:p.V298D;ENSG00000181626:ENST00000314074:exon8:c.T851A:p.V284D;	0.00407887800425861	0.18
18	12107295	T	C	18	12107296	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.T893C:p.V298A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.T893C:p.V298A;ENSG00000181626:ENST00000314074:exon8:c.T851C:p.V284A;	0.00924434585218152	0.148
18	12107295	T	G	18	12107296	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.T893G:p.V298G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.T893G:p.V298G;ENSG00000181626:ENST00000314074:exon8:c.T851G:p.V284G;	0.00761546661902826	0.13
18	12107464	T	A	18	12107465	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.T1062A:p.D354E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.T1062A:p.D354E;ENSG00000181626:ENST00000314074:exon8:c.T1020A:p.D340E;	6.15659746704085E-5	0.002
18	12107464	T	C	18	12107465	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon8:c.T1062C:p.D354D;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.T1062C:p.D354D;ENSG00000181626:ENST00000314074:exon8:c.T1020C:p.D340D;	2.14277818146748E-5	0.002
18	12107464	T	G	18	12107465	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.T1062G:p.D354E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.T1062G:p.D354E;ENSG00000181626:ENST00000314074:exon8:c.T1020G:p.D340E;	5.46343367086261E-5	0.006
18	12107465	A	C	18	12107466	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon8:c.A1063C:p.R355R;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.A1063C:p.R355R;ENSG00000181626:ENST00000314074:exon8:c.A1021C:p.R341R;	0.289993237258815	0.648
18	12107465	A	G	18	12107466	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.A1063G:p.R355G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.A1063G:p.R355G;ENSG00000181626:ENST00000314074:exon8:c.A1021G:p.R341G;	0.907314553501515	0.668
18	12107465	A	T	18	12107466	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.A1063T:p.R355W;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.A1063T:p.R355W;ENSG00000181626:ENST00000314074:exon8:c.A1021T:p.R341W;	0.967955303168333	0.642
18	12107466	G	A	18	12107467	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.G1064A:p.R355K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.G1064A:p.R355K;ENSG00000181626:ENST00000314074:exon8:c.G1022A:p.R341K;	0.999984327108563	0.978
18	12107466	G	C	18	12107467	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.G1064C:p.R355T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.G1064C:p.R355T;ENSG00000181626:ENST00000314074:exon8:c.G1022C:p.R341T;	0.999981420896407	0.966
18	12107466	G	T	18	12107467	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon8:c.G1064T:p.R355M;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon8:c.G1064T:p.R355M;ENSG00000181626:ENST00000314074:exon8:c.G1022T:p.R341M;	0.999964235322416	0.984
18	12107467	G	A	18	12107468	y	y	splicing	ANKRD62(NM_001277333:exon8:c.1064+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.1064+1G>A;ENST00000314074:exon8:c.1022+1G>A)	.	.	0.999941195711119	0.772
18	12107467	G	C	18	12107468	y	y	splicing	ANKRD62(NM_001277333:exon8:c.1064+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.1064+1G>C;ENST00000314074:exon8:c.1022+1G>C)	.	.	0.999941195711119	0.77
18	12107467	G	T	18	12107468	y	y	splicing	ANKRD62(NM_001277333:exon8:c.1064+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.1064+1G>T;ENST00000314074:exon8:c.1022+1G>T)	.	.	0.999941195711119	0.772
18	12107468	T	A	18	12107469	y	y	splicing	ANKRD62(NM_001277333:exon8:c.1064+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.1064+2T>A;ENST00000314074:exon8:c.1022+2T>A)	.	.	0.999933297680006	0.778
18	12107468	T	C	18	12107469	y	y	splicing	ANKRD62(NM_001277333:exon8:c.1064+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.1064+2T>C;ENST00000314074:exon8:c.1022+2T>C)	.	.	0.924531936907223	0.436
18	12107468	T	G	18	12107469	y	y	splicing	ANKRD62(NM_001277333:exon8:c.1064+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon8:c.1064+2T>G;ENST00000314074:exon8:c.1022+2T>G)	.	.	0.999933297680006	0.774
18	12107469	A	C	18	12107470	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999748202263075	0.87
18	12107469	A	G	18	12107470	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.993099275057337	0.69
18	12107469	A	T	18	12107470	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999748202263075	0.876
18	12107470	A	C	18	12107471	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.779771917932706	0.542
18	12107470	A	G	18	12107471	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.986779917192752	0.728
18	12107470	A	T	18	12107471	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.644005918616939	0.608
18	12107471	T	A	18	12107472	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.5424812568466E-5	0.014
18	12107471	T	C	18	12107472	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.63065284904611E-6	0.0
18	12107471	T	G	18	12107472	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.89901391783687E-5	0.004
18	12107472	C	A	18	12107473	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.36315498726393E-4	0.02
18	12107472	C	G	18	12107473	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.78372499816975E-5	0.062
18	12107472	C	T	18	12107473	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.39979756837452E-5	0.012
18	12107473	C	A	18	12107474	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.26357151266405E-5	0.004
18	12107473	C	G	18	12107474	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.15562760378155E-4	0.038
18	12107473	C	T	18	12107474	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.70010650753781E-4	0.014
18	12107474	T	A	18	12107475	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.87144777183066E-5	0.0
18	12107474	T	C	18	12107475	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.57929777851462E-5	0.0
18	12107474	T	G	18	12107475	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.73439129319802E-5	0.0
18	12115075	T	A	18	12115076	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.18047819691631E-4	0.168
18	12115075	T	C	18	12115076	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.43512120578337E-5	0.006
18	12115075	T	G	18	12115076	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00130532693927837	0.174
18	12115076	T	A	18	12115077	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.1092366427312E-4	0.058
18	12115076	T	C	18	12115077	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.27884535773088E-5	0.01
18	12115076	T	G	18	12115077	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.26489383309767E-4	0.054
18	12115077	T	A	18	12115078	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00491115717591457	0.238
18	12115077	T	C	18	12115078	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.91581944650896E-5	0.016
18	12115077	T	G	18	12115078	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00254521877970436	0.282
18	12115078	T	A	18	12115079	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00173520481837662	0.206
18	12115078	T	C	18	12115079	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.76057400291436E-5	0.022
18	12115078	T	G	18	12115079	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.67340843647285E-4	0.21
18	12115079	T	A	18	12115080	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.7284259691059E-4	0.134
18	12115079	T	C	18	12115080	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.61548026069558E-6	0.014
18	12115079	T	G	18	12115080	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.72984317474218E-5	0.1
18	12115080	T	A	18	12115081	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.84219617195017E-4	0.04
18	12115080	T	C	18	12115081	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.20603046239641E-6	0.0
18	12115080	T	G	18	12115081	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.63696616563822E-4	0.05
18	12115081	T	A	18	12115082	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00108247126872107	0.224
18	12115081	T	C	18	12115082	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.87727265751157E-5	0.01
18	12115081	T	G	18	12115082	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00347011047549654	0.252
18	12115082	T	A	18	12115083	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00693558076451239	0.344
18	12115082	T	C	18	12115083	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.59298874188221E-5	0.02
18	12115082	T	G	18	12115083	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0303996507701558	0.388
18	12115083	T	A	18	12115084	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.98658959601277E-6	0.006
18	12115083	T	C	18	12115084	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.55290809950388E-5	0.008
18	12115083	T	G	18	12115084	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.39101623311029E-5	0.01
18	12115084	T	A	18	12115085	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00687098346044602	0.13
18	12115084	T	C	18	12115085	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.39365987725817E-4	0.076
18	12115084	T	G	18	12115085	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.968251045546633	0.57
18	12115085	A	C	18	12115086	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1065-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1065-2A>C;ENST00000314074:exon9:c.1023-2A>C)	.	.	0.99996947969426	0.758
18	12115085	A	G	18	12115086	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1065-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1065-2A>G;ENST00000314074:exon9:c.1023-2A>G)	.	.	0.99996947969426	0.758
18	12115085	A	T	18	12115086	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1065-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1065-2A>T;ENST00000314074:exon9:c.1023-2A>T)	.	.	0.99996947969426	0.766
18	12115086	G	A	18	12115087	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1065-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1065-1G>A;ENST00000314074:exon9:c.1023-1G>A)	.	.	0.999986021333997	0.764
18	12115086	G	C	18	12115087	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1065-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1065-1G>C;ENST00000314074:exon9:c.1023-1G>C)	.	.	0.999965841304726	0.742
18	12115086	G	T	18	12115087	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1065-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1065-1G>T;ENST00000314074:exon9:c.1023-1G>T)	.	.	0.999986021333997	0.766
18	12115087	G	A	18	12115088	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon9:c.G1065A:p.R355R;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.G1065A:p.R355R;ENSG00000181626:ENST00000314074:exon9:c.G1023A:p.R341R;	8.08643033711471E-4	0.158
18	12115087	G	C	18	12115088	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.G1065C:p.R355S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.G1065C:p.R355S;ENSG00000181626:ENST00000314074:exon9:c.G1023C:p.R341S;	0.00275141728496081	0.174
18	12115087	G	T	18	12115088	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.G1065T:p.R355S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.G1065T:p.R355S;ENSG00000181626:ENST00000314074:exon9:c.G1023T:p.R341S;	0.0432101381347188	0.372
18	12115088	C	A	18	12115089	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.C1066A:p.L356I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.C1066A:p.L356I;ENSG00000181626:ENST00000314074:exon9:c.C1024A:p.L342I;	1.18819761220289E-4	0.0
18	12115088	C	G	18	12115089	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.C1066G:p.L356V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.C1066G:p.L356V;ENSG00000181626:ENST00000314074:exon9:c.C1024G:p.L342V;	7.6999715857208E-5	0.012
18	12115088	C	T	18	12115089	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.C1066T:p.L356F;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.C1066T:p.L356F;ENSG00000181626:ENST00000314074:exon9:c.C1024T:p.L342F;	1.39793216570951E-4	0.0
18	12115118	A	C	18	12115119	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.A1096C:p.K366Q;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.A1096C:p.K366Q;ENSG00000181626:ENST00000314074:exon9:c.A1054C:p.K352Q;	5.30712182052348E-4	0.002
18	12115118	A	G	18	12115119	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.A1096G:p.K366E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.A1096G:p.K366E;ENSG00000181626:ENST00000314074:exon9:c.A1054G:p.K352E;	0.00267862741512766	0.078
18	12115118	A	T	18	12115119	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon9:c.A1096T:p.K366X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon9:c.A1096T:p.K366X;ENSG00000181626:ENST00000314074:exon9:c.A1054T:p.K352X;	0.905489590140589	0.74
18	12115119	A	C	18	12115120	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.A1097C:p.K366T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.A1097C:p.K366T;ENSG00000181626:ENST00000314074:exon9:c.A1055C:p.K352T;	0.991371434179145	0.87
18	12115119	A	G	18	12115120	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.A1097G:p.K366R;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.A1097G:p.K366R;ENSG00000181626:ENST00000314074:exon9:c.A1055G:p.K352R;	0.993665922451325	0.894
18	12115119	A	T	18	12115120	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.A1097T:p.K366M;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.A1097T:p.K366M;ENSG00000181626:ENST00000314074:exon9:c.A1055T:p.K352M;	0.998922567427545	0.964
18	12115120	G	A	18	12115121	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon9:c.G1098A:p.K366K;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.G1098A:p.K366K;ENSG00000181626:ENST00000314074:exon9:c.G1056A:p.K352K;	0.999974291522186	0.934
18	12115120	G	C	18	12115121	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.G1098C:p.K366N;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.G1098C:p.K366N;ENSG00000181626:ENST00000314074:exon9:c.G1056C:p.K352N;	0.999998126370642	0.992
18	12115120	G	T	18	12115121	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon9:c.G1098T:p.K366N;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon9:c.G1098T:p.K366N;ENSG00000181626:ENST00000314074:exon9:c.G1056T:p.K352N;	0.99999483192963	0.974
18	12115121	G	A	18	12115122	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1098+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1098+1G>A;ENST00000314074:exon9:c.1056+1G>A)	.	.	0.999987061005681	0.764
18	12115121	G	C	18	12115122	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1098+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1098+1G>C;ENST00000314074:exon9:c.1056+1G>C)	.	.	0.999980415825594	0.778
18	12115121	G	T	18	12115122	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1098+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1098+1G>T;ENST00000314074:exon9:c.1056+1G>T)	.	.	0.999989776658353	0.77
18	12115122	T	A	18	12115123	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1098+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1098+2T>A;ENST00000314074:exon9:c.1056+2T>A)	.	.	0.999971749625584	0.798
18	12115122	T	C	18	12115123	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1098+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1098+2T>C;ENST00000314074:exon9:c.1056+2T>C)	.	.	0.964814833865739	0.49
18	12115122	T	G	18	12115123	y	y	splicing	ANKRD62(NM_001277333:exon9:c.1098+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon9:c.1098+2T>G;ENST00000314074:exon9:c.1056+2T>G)	.	.	0.999971749625584	0.758
18	12115123	A	C	18	12115124	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999909860212384	0.858
18	12115123	A	G	18	12115124	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999689552373003	0.804
18	12115123	A	T	18	12115124	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999909860212384	0.91
18	12115124	T	A	18	12115125	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.58362395592284E-4	0.132
18	12115124	T	C	18	12115125	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.04109576947951E-5	0.008
18	12115124	T	G	18	12115125	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.51060822092045E-4	0.024
18	12115125	T	A	18	12115126	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.64334702239849E-5	0.006
18	12115125	T	C	18	12115126	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.64648306002785E-5	0.002
18	12115125	T	G	18	12115126	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.62794150155907E-4	0.122
18	12115126	A	C	18	12115127	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.82264929006807E-4	0.038
18	12115126	A	G	18	12115127	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.76041393638604E-4	0.026
18	12115126	A	T	18	12115127	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.55908716824608E-5	0.016
18	12115127	T	A	18	12115128	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.31396776460197E-4	0.042
18	12115127	T	C	18	12115128	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.36639108501682E-5	0.002
18	12115127	T	G	18	12115128	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.39994444037546E-5	0.002
18	12115128	A	C	18	12115129	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.64281336543592E-4	0.002
18	12115128	A	G	18	12115129	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.69346823392175E-4	0.004
18	12115128	A	T	18	12115129	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.64281336543592E-4	0.004
18	12115380	T	A	18	12115381	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00773387307059344	0.226
18	12115380	T	C	18	12115381	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.01650613618466E-5	0.004
18	12115380	T	G	18	12115381	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.99917805541741	0.968
18	12115381	T	A	18	12115382	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.321596403238365	0.53
18	12115381	T	C	18	12115382	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00323265847254417	0.114
18	12115381	T	G	18	12115382	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.307146031422773	0.48
18	12115382	T	A	18	12115383	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0245440353586238	0.254
18	12115382	T	C	18	12115383	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.83228903748623E-5	0.004
18	12115382	T	G	18	12115383	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00619054145335193	0.244
18	12115383	A	C	18	12115384	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.63354716910922E-6	0.0
18	12115383	A	G	18	12115384	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.45047050057664E-5	0.0
18	12115383	A	T	18	12115384	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.76321869437532E-5	0.006
18	12115384	T	A	18	12115385	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00277211653429972	0.146
18	12115384	T	C	18	12115385	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.62202285270961E-6	0.014
18	12115384	T	G	18	12115385	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999281932773484	0.992
18	12115385	T	A	18	12115386	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0476605382000344	0.24
18	12115385	T	C	18	12115386	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.03519726453886E-4	0.028
18	12115385	T	G	18	12115386	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.030413228533762	0.212
18	12115386	T	A	18	12115387	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.111645956878491	0.272
18	12115386	T	C	18	12115387	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.20413160610321E-5	0.0
18	12115386	T	G	18	12115387	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.11019065532877	0.322
18	12115387	T	A	18	12115388	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.69445248339007	0.488
18	12115387	T	C	18	12115388	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.66934892708073E-4	0.022
18	12115387	T	G	18	12115388	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.808757358867715	0.474
18	12115388	A	C	18	12115389	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.28451330168763E-5	0.002
18	12115388	A	G	18	12115389	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.81913485725296E-5	0.006
18	12115388	A	T	18	12115389	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.71010291737967E-5	0.006
18	12115389	T	A	18	12115390	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00694557139543507	0.136
18	12115389	T	C	18	12115390	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.47399309411696E-4	0.066
18	12115389	T	G	18	12115390	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999485034334131	0.682
18	12115390	A	C	18	12115391	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1099-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1099-2A>C;ENST00000314074:exon10:c.1057-2A>C)	.	.	0.99996947969426	0.768
18	12115390	A	G	18	12115391	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1099-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1099-2A>G;ENST00000314074:exon10:c.1057-2A>G)	.	.	0.99996947969426	0.768
18	12115390	A	T	18	12115391	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1099-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1099-2A>T;ENST00000314074:exon10:c.1057-2A>T)	.	.	0.99996947969426	0.766
18	12115391	G	A	18	12115392	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1099-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1099-1G>A;ENST00000314074:exon10:c.1057-1G>A)	.	.	0.999974353892859	0.768
18	12115391	G	C	18	12115392	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1099-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1099-1G>C;ENST00000314074:exon10:c.1057-1G>C)	.	.	0.999974353892859	0.766
18	12115391	G	T	18	12115392	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1099-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1099-1G>T;ENST00000314074:exon10:c.1057-1G>T)	.	.	0.999974353892859	0.762
18	12115392	G	A	18	12115393	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.G1099A:p.V367I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.G1099A:p.V367I;ENSG00000181626:ENST00000314074:exon10:c.G1057A:p.V353I;	2.97458394573824E-4	0.104
18	12115392	G	C	18	12115393	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.G1099C:p.V367L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.G1099C:p.V367L;ENSG00000181626:ENST00000314074:exon10:c.G1057C:p.V353L;	0.0143734665495937	0.178
18	12115392	G	T	18	12115393	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.G1099T:p.V367F;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.G1099T:p.V367F;ENSG00000181626:ENST00000314074:exon10:c.G1057T:p.V353F;	0.574922309155916	0.4
18	12115393	T	A	18	12115394	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.T1100A:p.V367D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.T1100A:p.V367D;ENSG00000181626:ENST00000314074:exon10:c.T1058A:p.V353D;	0.00388214289965157	0.066
18	12115393	T	C	18	12115394	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.T1100C:p.V367A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.T1100C:p.V367A;ENSG00000181626:ENST00000314074:exon10:c.T1058C:p.V353A;	0.00377587364986286	0.064
18	12115393	T	G	18	12115394	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.T1100G:p.V367G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.T1100G:p.V367G;ENSG00000181626:ENST00000314074:exon10:c.T1058G:p.V353G;	0.00457728656362429	0.036
18	12115531	A	C	18	12115532	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.A1238C:p.K413T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.A1238C:p.K413T;ENSG00000181626:ENST00000314074:exon10:c.A1196C:p.K399T;	8.81997438947966E-5	0.0
18	12115531	A	G	18	12115532	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.A1238G:p.K413R;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.A1238G:p.K413R;ENSG00000181626:ENST00000314074:exon10:c.A1196G:p.K399R;	7.48236835582711E-5	0.004
18	12115531	A	T	18	12115532	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.A1238T:p.K413I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.A1238T:p.K413I;ENSG00000181626:ENST00000314074:exon10:c.A1196T:p.K399I;	0.00434990647582642	0.238
18	12115532	A	C	18	12115533	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.A1239C:p.K413N;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.A1239C:p.K413N;ENSG00000181626:ENST00000314074:exon10:c.A1197C:p.K399N;	0.0778165751591529	0.454
18	12115532	A	G	18	12115533	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon10:c.A1239G:p.K413K;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.A1239G:p.K413K;ENSG00000181626:ENST00000314074:exon10:c.A1197G:p.K399K;	0.462595016644204	0.498
18	12115532	A	T	18	12115533	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.A1239T:p.K413N;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.A1239T:p.K413N;ENSG00000181626:ENST00000314074:exon10:c.A1197T:p.K399N;	0.342363726408616	0.482
18	12115533	G	A	18	12115534	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.G1240A:p.D414N;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.G1240A:p.D414N;ENSG00000181626:ENST00000314074:exon10:c.G1198A:p.D400N;	0.999860263743325	0.988
18	12115533	G	C	18	12115534	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.G1240C:p.D414H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.G1240C:p.D414H;ENSG00000181626:ENST00000314074:exon10:c.G1198C:p.D400H;	0.999958989859249	0.952
18	12115533	G	T	18	12115534	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.G1240T:p.D414Y;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon10:c.G1240T:p.D414Y;ENSG00000181626:ENST00000314074:exon10:c.G1198T:p.D400Y;	0.99998238747093	0.986
18	12115534	G	A	18	12115535	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1240+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1240+1G>A;ENST00000314074:exon10:c.1198+1G>A)	.	.	0.99996887213458	0.762
18	12115534	G	C	18	12115535	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1240+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1240+1G>C;ENST00000314074:exon10:c.1198+1G>C)	.	.	0.999974353892859	0.762
18	12115534	G	T	18	12115535	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1240+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1240+1G>T;ENST00000314074:exon10:c.1198+1G>T)	.	.	0.999974353892859	0.762
18	12115535	T	A	18	12115536	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1240+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1240+2T>A;ENST00000314074:exon10:c.1198+2T>A)	.	.	0.999962956133083	0.762
18	12115535	T	C	18	12115536	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1240+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1240+2T>C;ENST00000314074:exon10:c.1198+2T>C)	.	.	0.949761911477058	0.47
18	12115535	T	G	18	12115536	y	y	splicing	ANKRD62(NM_001277333:exon10:c.1240+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon10:c.1240+2T>G;ENST00000314074:exon10:c.1198+2T>G)	.	.	0.999962956133083	0.764
18	12115536	A	C	18	12115537	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.989181796708057	0.74
18	12115536	A	G	18	12115537	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.582048691998661	0.538
18	12115536	A	T	18	12115537	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.991592840689864	0.704
18	12115537	G	A	18	12115538	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.19674462928202E-4	0.102
18	12115537	G	C	18	12115538	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.11718284032949E-4	0.032
18	12115537	G	T	18	12115538	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.45859081453395E-5	0.022
18	12115538	G	A	18	12115539	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.941662165680738	0.598
18	12115538	G	C	18	12115539	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.989338847523772	0.708
18	12115538	G	T	18	12115539	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999842798592635	0.738
18	12115539	A	C	18	12115540	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.21388612481554E-4	0.016
18	12115539	A	G	18	12115540	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.02651527430156E-5	0.002
18	12115539	A	T	18	12115540	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.42224466363915E-5	0.008
18	12115540	C	A	18	12115541	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.64457509596679E-5	0.006
18	12115540	C	G	18	12115541	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.92847692595696E-5	0.006
18	12115540	C	T	18	12115541	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.22130699253875E-4	0.01
18	12115541	C	A	18	12115542	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.61516313893569E-6	0.0
18	12115541	C	G	18	12115542	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.61516313893569E-6	0.0
18	12115541	C	T	18	12115542	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.61516313893569E-6	0.0
18	12122290	T	A	18	12122291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.516954724239944	0.498
18	12122290	T	C	18	12122291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.78181300543099E-5	0.018
18	12122290	T	G	18	12122291	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0533064215763727	0.374
18	12122291	C	A	18	12122292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00226495340195943	0.114
18	12122291	C	G	18	12122292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.11540837354098E-4	0.086
18	12122291	C	T	18	12122292	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.23458078045677E-5	0.014
18	12122292	C	A	18	12122293	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.78039596304671E-4	0.042
18	12122292	C	G	18	12122293	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.31667251398312E-4	0.052
18	12122292	C	T	18	12122293	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.07790492619707E-5	0.004
18	12122293	T	A	18	12122294	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998732515094349	0.948
18	12122293	T	C	18	12122294	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.36221758628933E-4	0.056
18	12122293	T	G	18	12122294	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0118450902381996	0.098
18	12122294	G	A	18	12122295	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.987980263661386	0.974
18	12122294	G	C	18	12122295	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.33383156939655E-5	0.0
18	12122294	G	T	18	12122295	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.33383156939655E-5	0.002
18	12122295	G	A	18	12122296	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.39635437764273E-5	0.008
18	12122295	G	C	18	12122296	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.47254085554397E-5	0.016
18	12122295	G	T	18	12122296	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.87483540059527E-5	0.032
18	12122296	T	A	18	12122297	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.78305245050201E-4	0.222
18	12122296	T	C	18	12122297	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.1344321716072E-4	0.026
18	12122296	T	G	18	12122297	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.77194926854068E-4	0.232
18	12122297	A	C	18	12122298	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.33383156939655E-5	0.0
18	12122297	A	G	18	12122298	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.11281705206122E-4	0.0
18	12122297	A	T	18	12122298	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.33383156939655E-5	0.004
18	12122298	A	C	18	12122299	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.24038548379182E-5	0.032
18	12122298	A	G	18	12122299	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.963140194981975	0.74
18	12122298	A	T	18	12122299	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.31786636669476E-5	0.006
18	12122299	C	A	18	12122300	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.926028950959504	0.78
18	12122299	C	G	18	12122300	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.99961678381896	0.874
18	12122299	C	T	18	12122300	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.73435189593312E-4	0.168
18	12122300	A	C	18	12122301	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1241-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1241-2A>C;ENST00000314074:exon11:c.1199-2A>C)	.	.	0.99996947969426	0.78
18	12122300	A	G	18	12122301	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1241-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1241-2A>G;ENST00000314074:exon11:c.1199-2A>G)	.	.	0.99996947969426	0.78
18	12122300	A	T	18	12122301	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1241-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1241-2A>T;ENST00000314074:exon11:c.1199-2A>T)	.	.	0.99996947969426	0.78
18	12122301	G	A	18	12122302	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1241-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1241-1G>A;ENST00000314074:exon11:c.1199-1G>A)	.	.	0.999983134235584	0.776
18	12122301	G	C	18	12122302	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1241-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1241-1G>C;ENST00000314074:exon11:c.1199-1G>C)	.	.	0.999983134235584	0.768
18	12122301	G	T	18	12122302	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1241-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1241-1G>T;ENST00000314074:exon11:c.1199-1G>T)	.	.	0.999983134235584	0.772
18	12122302	A	C	18	12122303	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.A1241C:p.D414A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.A1241C:p.D414A;ENSG00000181626:ENST00000314074:exon11:c.A1199C:p.D400A;	0.0020582268218016	0.164
18	12122302	A	G	18	12122303	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.A1241G:p.D414G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.A1241G:p.D414G;ENSG00000181626:ENST00000314074:exon11:c.A1199G:p.D400G;	2.91429631195889E-5	0.024
18	12122302	A	T	18	12122303	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.A1241T:p.D414V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.A1241T:p.D414V;ENSG00000181626:ENST00000314074:exon11:c.A1199T:p.D400V;	0.003143538647068	0.164
18	12122303	T	A	18	12122304	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.T1242A:p.D414E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.T1242A:p.D414E;ENSG00000181626:ENST00000314074:exon11:c.T1200A:p.D400E;	0.00205253053946993	0.146
18	12122303	T	C	18	12122304	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon11:c.T1242C:p.D414D;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.T1242C:p.D414D;ENSG00000181626:ENST00000314074:exon11:c.T1200C:p.D400D;	2.39383381349508E-4	0.02
18	12122303	T	G	18	12122304	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.T1242G:p.D414E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.T1242G:p.D414E;ENSG00000181626:ENST00000314074:exon11:c.T1200G:p.D400E;	0.00127104895590487	0.112
18	12122513	G	A	18	12122514	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon11:c.G1452A:p.L484L;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.G1452A:p.L484L;ENSG00000181626:ENST00000314074:exon11:c.G1410A:p.L470L;	1.97769277305195E-5	0.002
18	12122513	G	C	18	12122514	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.G1452C:p.L484F;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.G1452C:p.L484F;ENSG00000181626:ENST00000314074:exon11:c.G1410C:p.L470F;	1.97769277305195E-5	0.0
18	12122513	G	T	18	12122514	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.G1452T:p.L484F;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.G1452T:p.L484F;ENSG00000181626:ENST00000314074:exon11:c.G1410T:p.L470F;	0.00140941495987348	0.088
18	12122514	A	C	18	12122515	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon11:c.A1453C:p.R485R;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.A1453C:p.R485R;ENSG00000181626:ENST00000314074:exon11:c.A1411C:p.R471R;	0.948786482076378	0.738
18	12122514	A	G	18	12122515	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.A1453G:p.R485G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.A1453G:p.R485G;ENSG00000181626:ENST00000314074:exon11:c.A1411G:p.R471G;	0.999744650807282	0.776
18	12122514	A	T	18	12122515	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon11:c.A1453T:p.R485X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon11:c.A1453T:p.R485X;ENSG00000181626:ENST00000314074:exon11:c.A1411T:p.R471X;	0.99995756749087	0.84
18	12122515	G	A	18	12122516	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.G1454A:p.R485K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.G1454A:p.R485K;ENSG00000181626:ENST00000314074:exon11:c.G1412A:p.R471K;	0.999993532948942	0.996
18	12122515	G	C	18	12122516	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.G1454C:p.R485T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.G1454C:p.R485T;ENSG00000181626:ENST00000314074:exon11:c.G1412C:p.R471T;	0.99999497811036	0.98
18	12122515	G	T	18	12122516	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon11:c.G1454T:p.R485I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon11:c.G1454T:p.R485I;ENSG00000181626:ENST00000314074:exon11:c.G1412T:p.R471I;	0.999990079257138	0.982
18	12122516	G	A	18	12122517	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1454+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1454+1G>A;ENST00000314074:exon11:c.1412+1G>A)	.	.	0.999967087357214	0.778
18	12122516	G	C	18	12122517	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1454+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1454+1G>C;ENST00000314074:exon11:c.1412+1G>C)	.	.	0.999974324238388	0.782
18	12122516	G	T	18	12122517	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1454+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1454+1G>T;ENST00000314074:exon11:c.1412+1G>T)	.	.	0.999974324238388	0.782
18	12122517	T	A	18	12122518	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1454+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1454+2T>A;ENST00000314074:exon11:c.1412+2T>A)	.	.	0.999940442019369	0.784
18	12122517	T	C	18	12122518	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1454+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1454+2T>C;ENST00000314074:exon11:c.1412+2T>C)	.	.	0.927641199969417	0.466
18	12122517	T	G	18	12122518	y	y	splicing	ANKRD62(NM_001277333:exon11:c.1454+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon11:c.1454+2T>G;ENST00000314074:exon11:c.1412+2T>G)	.	.	0.999943606500869	0.788
18	12122518	A	C	18	12122519	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999910871628438	0.834
18	12122518	A	G	18	12122519	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999601833515677	0.766
18	12122518	A	T	18	12122519	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.99993051196403	0.86
18	12122519	T	A	18	12122520	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.9179067049993E-5	0.164
18	12122519	T	C	18	12122520	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.9678262605835E-5	0.026
18	12122519	T	G	18	12122520	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.10869613596315E-4	0.044
18	12122520	C	A	18	12122521	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.77403751050886E-5	0.004
18	12122520	C	G	18	12122521	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.64020027839555E-5	0.002
18	12122520	C	T	18	12122521	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.54800810529653E-5	0.004
18	12122521	A	C	18	12122522	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.24227734991307E-4	0.156
18	12122521	A	G	18	12122522	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.7321520090246E-4	0.04
18	12122521	A	T	18	12122522	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.03655335492268E-4	0.066
18	12122522	C	A	18	12122523	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.46175180066508E-5	0.08
18	12122522	C	G	18	12122523	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.20222147948885E-6	0.002
18	12122522	C	T	18	12122523	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.11747866246031E-5	0.072
18	12122523	A	C	18	12122524	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.75691350492924E-4	0.016
18	12122523	A	G	18	12122524	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.23422304900167E-4	0.016
18	12122523	A	T	18	12122524	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.81104073624731E-4	0.022
18	12124124	A	C	18	12124125	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.49148746352325E-5	0.012
18	12124124	A	G	18	12124125	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.06918591543972E-4	0.006
18	12124124	A	T	18	12124125	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.55498123675861E-5	0.026
18	12124125	T	A	18	12124126	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.868014464754434	0.624
18	12124125	T	C	18	12124126	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0296140748128949	0.308
18	12124125	T	G	18	12124126	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.9998985099095	0.966
18	12124126	T	A	18	12124127	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.277431277416052	0.268
18	12124126	T	C	18	12124127	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.17482223317249E-4	0.048
18	12124126	T	G	18	12124127	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.595840844383936	0.442
18	12124127	T	A	18	12124128	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.164132687623246	0.316
18	12124127	T	C	18	12124128	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.90129082581301E-5	0.034
18	12124127	T	G	18	12124128	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.337322387431179	0.432
18	12124128	A	C	18	12124129	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.47092740345774E-5	0.012
18	12124128	A	G	18	12124129	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.08907529314676E-4	0.01
18	12124128	A	T	18	12124129	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.49148746352325E-5	0.01
18	12124129	A	C	18	12124130	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.19150991987764E-5	0.032
18	12124129	A	G	18	12124130	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998902913401599	0.994
18	12124129	A	T	18	12124130	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.19150991987764E-5	0.032
18	12124130	C	A	18	12124131	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00176365236004698	0.19
18	12124130	C	G	18	12124131	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.982788878234348	0.408
18	12124130	C	T	18	12124131	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.65006109888806E-5	0.0
18	12124131	T	A	18	12124132	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.646568837546976	0.54
18	12124131	T	C	18	12124132	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.3472272148555E-4	0.068
18	12124131	T	G	18	12124132	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.341510679538341	0.516
18	12124132	A	C	18	12124133	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.37086438178069E-6	0.03
18	12124132	A	G	18	12124133	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.16453761344073E-5	0.084
18	12124132	A	T	18	12124133	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.48805649584902E-5	0.03
18	12124133	C	A	18	12124134	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998657820545377	0.846
18	12124133	C	G	18	12124134	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999557758486417	0.732
18	12124133	C	T	18	12124134	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0108115244278184	0.178
18	12124134	A	C	18	12124135	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1455-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1455-2A>C;ENST00000314074:exon12:c.1413-2A>C)	.	.	0.999938021631069	0.786
18	12124134	A	G	18	12124135	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1455-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1455-2A>G;ENST00000314074:exon12:c.1413-2A>G)	.	.	0.999938021631069	0.786
18	12124134	A	T	18	12124135	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1455-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1455-2A>T;ENST00000314074:exon12:c.1413-2A>T)	.	.	0.999938021631069	0.79
18	12124135	G	A	18	12124136	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1455-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1455-1G>A;ENST00000314074:exon12:c.1413-1G>A)	.	.	0.9999453603432	0.78
18	12124135	G	C	18	12124136	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1455-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1455-1G>C;ENST00000314074:exon12:c.1413-1G>C)	.	.	0.9999453603432	0.772
18	12124135	G	T	18	12124136	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1455-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1455-1G>T;ENST00000314074:exon12:c.1413-1G>T)	.	.	0.9999453603432	0.762
18	12124136	A	C	18	12124137	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.A1455C:p.R485S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.A1455C:p.R485S;ENSG00000181626:ENST00000314074:exon12:c.A1413C:p.R471S;	5.76668055653262E-4	0.078
18	12124136	A	G	18	12124137	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon12:c.A1455G:p.R485R;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.A1455G:p.R485R;ENSG00000181626:ENST00000314074:exon12:c.A1413G:p.R471R;	1.97769277305195E-5	0.004
18	12124136	A	T	18	12124137	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.A1455T:p.R485S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.A1455T:p.R485S;ENSG00000181626:ENST00000314074:exon12:c.A1413T:p.R471S;	0.00180142444606761	0.126
18	12124137	T	A	18	12124138	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.T1456A:p.F486I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.T1456A:p.F486I;ENSG00000181626:ENST00000314074:exon12:c.T1414A:p.F472I;	0.00176021432499268	0.086
18	12124137	T	C	18	12124138	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.T1456C:p.F486L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.T1456C:p.F486L;ENSG00000181626:ENST00000314074:exon12:c.T1414C:p.F472L;	0.00169321637761524	0.066
18	12124137	T	G	18	12124138	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.T1456G:p.F486V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.T1456G:p.F486V;ENSG00000181626:ENST00000314074:exon12:c.T1414G:p.F472V;	0.00122532719328034	0.042
18	12124317	C	A	18	12124318	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.C1636A:p.Q546K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.C1636A:p.Q546K;ENSG00000181626:ENST00000314074:exon12:c.C1594A:p.Q532K;	2.31038810191001E-5	0.01
18	12124317	C	G	18	12124318	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.C1636G:p.Q546E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.C1636G:p.Q546E;ENSG00000181626:ENST00000314074:exon12:c.C1594G:p.Q532E;	4.37629820760897E-5	0.002
18	12124317	C	T	18	12124318	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon12:c.C1636T:p.Q546X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon12:c.C1636T:p.Q546X;ENSG00000181626:ENST00000314074:exon12:c.C1594T:p.Q532X;	0.039064384582447	0.29
18	12124318	A	C	18	12124319	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.A1637C:p.Q546P;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.A1637C:p.Q546P;ENSG00000181626:ENST00000314074:exon12:c.A1595C:p.Q532P;	0.546516216739711	0.642
18	12124318	A	G	18	12124319	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.A1637G:p.Q546R;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.A1637G:p.Q546R;ENSG00000181626:ENST00000314074:exon12:c.A1595G:p.Q532R;	0.874751903265508	0.634
18	12124318	A	T	18	12124319	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.A1637T:p.Q546L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.A1637T:p.Q546L;ENSG00000181626:ENST00000314074:exon12:c.A1595T:p.Q532L;	0.980750929096232	0.708
18	12124319	G	A	18	12124320	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon12:c.G1638A:p.Q546Q;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.G1638A:p.Q546Q;ENSG00000181626:ENST00000314074:exon12:c.G1596A:p.Q532Q;	0.999167815053284	0.92
18	12124319	G	C	18	12124320	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.G1638C:p.Q546H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.G1638C:p.Q546H;ENSG00000181626:ENST00000314074:exon12:c.G1596C:p.Q532H;	0.999997858259713	0.97
18	12124319	G	T	18	12124320	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon12:c.G1638T:p.Q546H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon12:c.G1638T:p.Q546H;ENSG00000181626:ENST00000314074:exon12:c.G1596T:p.Q532H;	0.999759789443672	0.922
18	12124320	G	A	18	12124321	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1638+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1638+1G>A;ENST00000314074:exon12:c.1596+1G>A)	.	.	0.999983626749857	0.76
18	12124320	G	C	18	12124321	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1638+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1638+1G>C;ENST00000314074:exon12:c.1596+1G>C)	.	.	0.99998651018852	0.762
18	12124320	G	T	18	12124321	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1638+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1638+1G>T;ENST00000314074:exon12:c.1596+1G>T)	.	.	0.999983626749857	0.76
18	12124321	T	A	18	12124322	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1638+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1638+2T>A;ENST00000314074:exon12:c.1596+2T>A)	.	.	0.999962956133083	0.76
18	12124321	T	C	18	12124322	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1638+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1638+2T>C;ENST00000314074:exon12:c.1596+2T>C)	.	.	0.949761911477058	0.492
18	12124321	T	G	18	12124322	y	y	splicing	ANKRD62(NM_001277333:exon12:c.1638+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon12:c.1638+2T>G;ENST00000314074:exon12:c.1596+2T>G)	.	.	0.999962956133083	0.76
18	12124322	A	C	18	12124323	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998471457686886	0.758
18	12124322	A	G	18	12124323	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.120260975034932	0.442
18	12124322	A	T	18	12124323	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.997192288241939	0.676
18	12124323	A	C	18	12124324	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0781751781065491	0.308
18	12124323	A	G	18	12124324	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0382405370518073	0.252
18	12124323	A	T	18	12124324	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0775311555216865	0.298
18	12124324	A	C	18	12124325	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.35169144914075E-5	0.026
18	12124324	A	G	18	12124325	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.99470943513607E-5	0.082
18	12124324	A	T	18	12124325	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.30122989491252E-4	0.004
18	12124325	T	A	18	12124326	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.12179053389961E-4	0.154
18	12124325	T	C	18	12124326	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0018122425913096	0.202
18	12124325	T	G	18	12124326	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.44555908936434E-5	0.142
18	12124326	T	A	18	12124327	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.01504545386126E-5	0.016
18	12124326	T	C	18	12124327	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.01504545386126E-5	0.016
18	12124326	T	G	18	12124327	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.99750873614539E-5	0.016
18	12124327	A	C	18	12124328	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.98244373243359E-6	0.0
18	12124327	A	G	18	12124328	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.25282915568616E-6	0.0
18	12124327	A	T	18	12124328	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.1413478124246E-5	0.0
18	12125447	T	A	18	12125448	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999758236589537	0.928
18	12125447	T	C	18	12125448	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.5832784001511E-4	0.0
18	12125447	T	G	18	12125448	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0129510381644475	0.274
18	12125448	G	A	18	12125449	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.0164665759674E-4	0.008
18	12125448	G	C	18	12125449	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.23484130032828E-5	0.002
18	12125448	G	T	18	12125449	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.57721585673151E-5	0.086
18	12125449	T	A	18	12125450	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.49479449439058	0.426
18	12125449	T	C	18	12125450	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.08152225201831E-4	0.004
18	12125449	T	G	18	12125450	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.170379897697021	0.404
18	12125450	T	A	18	12125451	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0230848364090368	0.198
18	12125450	T	C	18	12125451	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.14977258653798E-4	0.0
18	12125450	T	G	18	12125451	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0104661691741828	0.212
18	12125451	T	A	18	12125452	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0311849976154732	0.248
18	12125451	T	C	18	12125452	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.74506289345856E-5	0.016
18	12125451	T	G	18	12125452	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.85954593327848E-4	0.21
18	12125452	T	A	18	12125453	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00233441287194244	0.128
18	12125452	T	C	18	12125453	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.99377030693315E-5	0.01
18	12125452	T	G	18	12125453	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.40422682670433E-4	0.146
18	12125453	A	C	18	12125454	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.11798403319009E-5	0.01
18	12125453	A	G	18	12125454	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.92299532797488E-5	0.01
18	12125453	A	T	18	12125454	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.53019088278647E-5	0.014
18	12125454	T	A	18	12125455	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.21142893503455	0.484
18	12125454	T	C	18	12125455	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.2524209034153E-5	0.002
18	12125454	T	G	18	12125455	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999622210404268	0.818
18	12125455	T	A	18	12125456	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.60776355365337E-5	0.004
18	12125455	T	C	18	12125456	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.31772950786367E-5	0.006
18	12125455	T	G	18	12125456	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.82973782257318E-5	0.01
18	12125456	T	A	18	12125457	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0350929404752118	0.282
18	12125456	T	C	18	12125457	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	5.23301775388062E-5	0.036
18	12125456	T	G	18	12125457	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998137982051498	0.698
18	12125457	A	C	18	12125458	y	y	splicing	ANKRD62(NM_001277333:exon13:c.1639-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.1639-2A>C;ENST00000314074:exon13:c.1597-2A>C)	.	.	0.99996947969426	0.75
18	12125457	A	G	18	12125458	y	y	splicing	ANKRD62(NM_001277333:exon13:c.1639-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.1639-2A>G;ENST00000314074:exon13:c.1597-2A>G)	.	.	0.99996947969426	0.75
18	12125457	A	T	18	12125458	y	y	splicing	ANKRD62(NM_001277333:exon13:c.1639-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.1639-2A>T;ENST00000314074:exon13:c.1597-2A>T)	.	.	0.99996947969426	0.75
18	12125458	G	A	18	12125459	y	y	splicing	ANKRD62(NM_001277333:exon13:c.1639-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.1639-1G>A;ENST00000314074:exon13:c.1597-1G>A)	.	.	0.99998651018852	0.676
18	12125458	G	C	18	12125459	y	y	splicing	ANKRD62(NM_001277333:exon13:c.1639-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.1639-1G>C;ENST00000314074:exon13:c.1597-1G>C)	.	.	0.99998651018852	0.678
18	12125458	G	T	18	12125459	y	y	splicing	ANKRD62(NM_001277333:exon13:c.1639-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.1639-1G>T;ENST00000314074:exon13:c.1597-1G>T)	.	.	0.99998651018852	0.668
18	12125459	A	C	18	12125460	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A1639C:p.N547H;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A1639C:p.N547H;ENSG00000181626:ENST00000314074:exon13:c.A1597C:p.N533H;	2.35121260216435E-4	0.058
18	12125459	A	G	18	12125460	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A1639G:p.N547D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A1639G:p.N547D;ENSG00000181626:ENST00000314074:exon13:c.A1597G:p.N533D;	5.15801639663399E-5	0.102
18	12125459	A	T	18	12125460	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A1639T:p.N547Y;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A1639T:p.N547Y;ENSG00000181626:ENST00000314074:exon13:c.A1597T:p.N533Y;	1.02716339405747E-4	0.028
18	12125460	A	C	18	12125461	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A1640C:p.N547T;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A1640C:p.N547T;ENSG00000181626:ENST00000314074:exon13:c.A1598C:p.N533T;	8.36975505489741E-5	0.022
18	12125460	A	G	18	12125461	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A1640G:p.N547S;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A1640G:p.N547S;ENSG00000181626:ENST00000314074:exon13:c.A1598G:p.N533S;	6.76122573496818E-5	0.122
18	12125460	A	T	18	12125461	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A1640T:p.N547I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A1640T:p.N547I;ENSG00000181626:ENST00000314074:exon13:c.A1598T:p.N533I;	1.06816255314861E-5	0.008
18	12126380	G	A	18	12126381	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.G2560A:p.E854K;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.G2560A:p.E854K;ENSG00000181626:ENST00000314074:exon13:c.G2518A:p.E840K;	3.19576470353807E-5	0.026
18	12126380	G	C	18	12126381	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.G2560C:p.E854Q;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.G2560C:p.E854Q;ENSG00000181626:ENST00000314074:exon13:c.G2518C:p.E840Q;	2.43065629716272E-5	0.0
18	12126380	G	T	18	12126381	y	y	exonic	ANKRD62	stopgain SNV	ANKRD62:NM_001277333:exon13:c.G2560T:p.E854X;	exonic	ENSG00000181626	stopgain SNV	ENSG00000181626:ENST00000587848:exon13:c.G2560T:p.E854X;ENSG00000181626:ENST00000314074:exon13:c.G2518T:p.E840X;	1.16844774407151E-4	0.182
18	12126381	A	C	18	12126382	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A2561C:p.E854A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A2561C:p.E854A;ENSG00000181626:ENST00000314074:exon13:c.A2519C:p.E840A;	0.36908029604396	0.516
18	12126381	A	G	18	12126382	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A2561G:p.E854G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A2561G:p.E854G;ENSG00000181626:ENST00000314074:exon13:c.A2519G:p.E840G;	0.391722054712085	0.354
18	12126381	A	T	18	12126382	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A2561T:p.E854V;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A2561T:p.E854V;ENSG00000181626:ENST00000314074:exon13:c.A2519T:p.E840V;	0.487766232316735	0.55
18	12126382	A	C	18	12126383	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A2562C:p.E854D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A2562C:p.E854D;ENSG00000181626:ENST00000314074:exon13:c.A2520C:p.E840D;	1.93308283817603E-4	0.044
18	12126382	A	G	18	12126383	y	y	exonic	ANKRD62	synonymous SNV	ANKRD62:NM_001277333:exon13:c.A2562G:p.E854E;	exonic	ENSG00000181626	synonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A2562G:p.E854E;ENSG00000181626:ENST00000314074:exon13:c.A2520G:p.E840E;	1.12712550502179E-4	0.144
18	12126382	A	T	18	12126383	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon13:c.A2562T:p.E854D;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon13:c.A2562T:p.E854D;ENSG00000181626:ENST00000314074:exon13:c.A2520T:p.E840D;	1.56771428958113E-4	0.046
18	12126383	G	A	18	12126384	y	y	splicing	ANKRD62(NM_001277333:exon13:c.2562+1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.2562+1G>A;ENST00000314074:exon13:c.2520+1G>A)	.	.	0.999971352136834	0.896
18	12126383	G	C	18	12126384	y	y	splicing	ANKRD62(NM_001277333:exon13:c.2562+1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.2562+1G>C;ENST00000314074:exon13:c.2520+1G>C)	.	.	0.999955306461558	0.874
18	12126383	G	T	18	12126384	y	y	splicing	ANKRD62(NM_001277333:exon13:c.2562+1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.2562+1G>T;ENST00000314074:exon13:c.2520+1G>T)	.	.	0.999956456047445	0.86
18	12126384	T	A	18	12126385	y	y	splicing	ANKRD62(NM_001277333:exon13:c.2562+2T>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.2562+2T>A;ENST00000314074:exon13:c.2520+2T>A)	.	.	0.999945570227849	0.872
18	12126384	T	C	18	12126385	y	y	splicing	ANKRD62(NM_001277333:exon13:c.2562+2T>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.2562+2T>C;ENST00000314074:exon13:c.2520+2T>C)	.	.	0.976000396030209	0.56
18	12126384	T	G	18	12126385	y	y	splicing	ANKRD62(NM_001277333:exon13:c.2562+2T>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon13:c.2562+2T>G;ENST00000314074:exon13:c.2520+2T>G)	.	.	0.999967504297517	0.898
18	12126385	A	C	18	12126386	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999401676177355	0.802
18	12126385	A	G	18	12126386	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00233006090979406	0.07
18	12126385	A	T	18	12126386	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.99271780742107	0.714
18	12126386	A	C	18	12126387	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.727373795288959	0.546
18	12126386	A	G	18	12126387	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.975014329897385	0.67
18	12126386	A	T	18	12126387	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.807485991188183	0.592
18	12126387	G	A	18	12126388	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.997128854763094	0.772
18	12126387	G	C	18	12126388	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.998794714994963	0.848
18	12126387	G	T	18	12126388	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999729456016465	0.778
18	12126388	T	A	18	12126389	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.16040234429468	0.328
18	12126388	T	C	18	12126389	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0685233286025336	0.288
18	12126388	T	G	18	12126389	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0291222118007734	0.296
18	12126389	A	C	18	12126390	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00106993974500734	0.024
18	12126389	A	G	18	12126390	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00177200441011631	0.014
18	12126389	A	T	18	12126390	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	8.9561811877468E-4	0.01
18	12126390	T	A	18	12126391	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.98792188213973E-5	0.002
18	12126390	T	C	18	12126391	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.79709823629694E-5	0.002
18	12126390	T	G	18	12126391	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	4.84304654673298E-5	0.002
18	12127735	A	C	18	12127736	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.08589697824089E-5	0.012
18	12127735	A	G	18	12127736	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.996307736421252	0.972
18	12127735	A	T	18	12127736	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	3.9201602818272E-5	0.05
18	12127736	C	A	18	12127737	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.30509571386031E-5	0.07
18	12127736	C	G	18	12127737	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999201029662597	0.968
18	12127736	C	T	18	12127737	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	9.94628078027254E-5	0.03
18	12127737	A	C	18	12127738	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.65010732302868E-5	0.014
18	12127737	A	G	18	12127738	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.14441232140063E-5	0.0
18	12127737	A	T	18	12127738	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.71060285051289E-5	0.026
18	12127738	T	A	18	12127739	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.843243979989921	0.592
18	12127738	T	C	18	12127739	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00141097896075506	0.062
18	12127738	T	G	18	12127739	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.999024897841839	0.95
18	12127739	C	A	18	12127740	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00214833596889805	0.17
18	12127739	C	G	18	12127740	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	6.96880981231195E-4	0.152
18	12127739	C	T	18	12127740	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.51500816591489E-4	0.016
18	12127740	T	A	18	12127741	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.798982935925314	0.558
18	12127740	T	C	18	12127741	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.44431859356594E-4	0.052
18	12127740	T	G	18	12127741	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.550079779006741	0.502
18	12127741	T	A	18	12127742	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.0777752902944696	0.394
18	12127741	T	C	18	12127742	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	7.6754682660551E-5	0.042
18	12127741	T	G	18	12127742	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.497259233944904	0.544
18	12127742	A	C	18	12127743	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.55908716824608E-5	0.0
18	12127742	A	G	18	12127743	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.17486155721189E-5	0.008
18	12127742	A	T	18	12127743	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	2.44567246961622E-5	0.002
18	12127743	C	A	18	12127744	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.86996074517724E-5	0.004
18	12127743	C	G	18	12127744	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.329858745974778	0.532
18	12127743	C	T	18	12127744	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	1.52276608712576E-5	0.002
18	12127744	C	A	18	12127745	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.889847907997082	0.786
18	12127744	C	G	18	12127745	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.990738701446747	0.744
18	12127744	C	T	18	12127745	y	y	intronic	ANKRD62	.	.	intronic	ENSG00000181626	.	.	0.00166362969114285	0.182
18	12127745	A	C	18	12127746	y	y	splicing	ANKRD62(NM_001277333:exon14:c.2563-2A>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon14:c.2563-2A>C;ENST00000314074:exon14:c.2521-2A>C)	.	.	0.999664767084562	0.764
18	12127745	A	G	18	12127746	y	y	splicing	ANKRD62(NM_001277333:exon14:c.2563-2A>G)	.	.	splicing	ENSG00000181626(ENST00000587848:exon14:c.2563-2A>G;ENST00000314074:exon14:c.2521-2A>G)	.	.	0.999664767084562	0.766
18	12127745	A	T	18	12127746	y	y	splicing	ANKRD62(NM_001277333:exon14:c.2563-2A>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon14:c.2563-2A>T;ENST00000314074:exon14:c.2521-2A>T)	.	.	0.999664767084562	0.776
18	12127746	G	A	18	12127747	y	y	splicing	ANKRD62(NM_001277333:exon14:c.2563-1G>A)	.	.	splicing	ENSG00000181626(ENST00000587848:exon14:c.2563-1G>A;ENST00000314074:exon14:c.2521-1G>A)	.	.	0.999776115763665	0.75
18	12127746	G	C	18	12127747	y	y	splicing	ANKRD62(NM_001277333:exon14:c.2563-1G>C)	.	.	splicing	ENSG00000181626(ENST00000587848:exon14:c.2563-1G>C;ENST00000314074:exon14:c.2521-1G>C)	.	.	0.999776115763665	0.758
18	12127746	G	T	18	12127747	y	y	splicing	ANKRD62(NM_001277333:exon14:c.2563-1G>T)	.	.	splicing	ENSG00000181626(ENST00000587848:exon14:c.2563-1G>T;ENST00000314074:exon14:c.2521-1G>T)	.	.	0.999776115763665	0.76
18	12127747	G	A	18	12127748	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.G2563A:p.V855I;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon14:c.G2563A:p.V855I;ENSG00000181626:ENST00000314074:exon14:c.G2521A:p.V841I;	0.00722656380690109	0.336
18	12127747	G	C	18	12127748	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.G2563C:p.V855L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon14:c.G2563C:p.V855L;ENSG00000181626:ENST00000314074:exon14:c.G2521C:p.V841L;	0.672880303858255	0.552
18	12127747	G	T	18	12127748	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.G2563T:p.V855L;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon14:c.G2563T:p.V855L;ENSG00000181626:ENST00000314074:exon14:c.G2521T:p.V841L;	0.889242576550321	0.704
18	12127748	T	A	18	12127749	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.T2564A:p.V855E;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon14:c.T2564A:p.V855E;ENSG00000181626:ENST00000314074:exon14:c.T2522A:p.V841E;	3.53181693870604E-4	0.07
18	12127748	T	C	18	12127749	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.T2564C:p.V855A;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon14:c.T2564C:p.V855A;ENSG00000181626:ENST00000314074:exon14:c.T2522C:p.V841A;	5.6255059059906E-4	0.052
18	12127748	T	G	18	12127749	y	y	exonic	ANKRD62	nonsynonymous SNV	ANKRD62:NM_001277333:exon14:c.T2564G:p.V855G;	exonic	ENSG00000181626	nonsynonymous SNV	ENSG00000181626:ENST00000587848:exon14:c.T2564G:p.V855G;ENSG00000181626:ENST00000314074:exon14:c.T2522G:p.V841G;	0.00199580528509102	0.052
18	12254953	C	A	18	12254954	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000522713:exon1:c.C571A:p.Q191K;	4.1430632228676E-4	.
18	12254953	C	G	18	12254954	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000522713:exon1:c.C571G:p.Q191E;	9.54430567689038E-5	.
18	12254953	C	T	18	12254954	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	stopgain SNV	ENSG00000176194:ENST00000522713:exon1:c.C571T:p.Q191X;	7.2647318516772E-4	.
18	12254954	A	C	18	12254955	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000522713:exon1:c.A572C:p.Q191P;	1.69748745582719E-4	.
18	12254954	A	G	18	12254955	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000522713:exon1:c.A572G:p.Q191R;	2.11806490396658E-4	.
18	12254954	A	T	18	12254955	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000522713:exon1:c.A572T:p.Q191L;	2.11806490396658E-4	.
18	12254955	G	A	18	12254956	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000522713:exon1:c.G573A:p.Q191Q;	1.04816442889911E-4	.
18	12254955	G	C	18	12254956	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000522713:exon1:c.G573C:p.Q191H;	1.59072212752433E-4	.
18	12254955	G	T	18	12254956	n	y	intronic	CIDEA	.	.	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000522713:exon1:c.G573T:p.Q191H;	1.59072212752433E-4	.
18	12254956	G	A	18	12254957	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon1:c.573+1G>A)	.	.	1.85251414907932E-4	.
18	12254956	G	C	18	12254957	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon1:c.573+1G>C)	.	.	7.08795391064303E-5	.
18	12254956	G	T	18	12254957	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon1:c.573+1G>T)	.	.	1.47319399506977E-4	.
18	12254957	T	A	18	12254958	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon1:c.573+2T>A)	.	.	1.82032019522581E-4	.
18	12254957	T	C	18	12254958	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon1:c.573+2T>C)	.	.	9.1315639742423E-5	.
18	12254957	T	G	18	12254958	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon1:c.573+2T>G)	.	.	9.5135152948545E-5	.
18	12254958	T	A	18	12254959	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.64754090412859E-4	.
18	12254958	T	C	18	12254959	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.7760679778466E-5	.
18	12254958	T	G	18	12254959	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.7760679778466E-5	.
18	12254959	G	A	18	12254960	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.23074432783315E-4	.
18	12254959	G	C	18	12254960	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.23074432783315E-4	.
18	12254959	G	T	18	12254960	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.23074432783315E-4	.
18	12254960	G	A	18	12254961	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.28997691157339E-4	.
18	12254960	G	C	18	12254961	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.28997691157339E-4	.
18	12254960	G	T	18	12254961	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.28997691157339E-4	.
18	12254961	T	A	18	12254962	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.96174393693316E-4	.
18	12254961	T	C	18	12254962	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.96174393693316E-4	.
18	12254961	T	G	18	12254962	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.96174393693316E-4	.
18	12254962	G	A	18	12254963	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.41868167252174E-5	.
18	12254962	G	C	18	12254963	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.41868167252174E-5	.
18	12254962	G	T	18	12254963	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.41868167252174E-5	.
18	12254963	G	A	18	12254964	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.04157601370728E-5	.
18	12254963	G	C	18	12254964	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.04157601370728E-5	.
18	12254963	G	T	18	12254964	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.04157601370728E-5	.
18	12262812	C	A	18	12262813	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.28475184865044E-4	0.042
18	12262812	C	G	18	12262813	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.33745488163641E-4	0.022
18	12262812	C	T	18	12262813	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.79314067528515E-5	0.0
18	12262813	T	A	18	12262814	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.701500682850249	0.49
18	12262813	T	C	18	12262814	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00309278415770424	0.058
18	12262813	T	G	18	12262814	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.399530754493786	0.4
18	12262814	C	A	18	12262815	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00761847320631292	0.084
18	12262814	C	G	18	12262815	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00811679822968046	0.09
18	12262814	C	T	18	12262815	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.98283179381308E-5	0.002
18	12262815	C	A	18	12262816	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.010670891432633	0.174
18	12262815	C	G	18	12262816	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0273768331949905	0.182
18	12262815	C	T	18	12262816	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00112428035339992	0.144
18	12262816	A	C	18	12262817	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.5576406215315E-5	0.002
18	12262816	A	G	18	12262817	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.06945093424008E-4	0.002
18	12262816	A	T	18	12262817	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	7.77927588445124E-5	0.004
18	12262817	T	A	18	12262818	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.861775944078453	0.55
18	12262817	T	C	18	12262818	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.56564513234702E-4	0.036
18	12262817	T	G	18	12262818	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999795174043871	0.956
18	12262818	T	A	18	12262819	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0348222892164438	0.24
18	12262818	T	C	18	12262819	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.8486082824406E-4	0.004
18	12262818	T	G	18	12262819	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.138368179649759	0.246
18	12262819	T	A	18	12262820	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.687492027878099	0.544
18	12262819	T	C	18	12262820	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.03884294985232E-4	0.046
18	12262819	T	G	18	12262820	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.948084821675089	0.526
18	12262820	T	A	18	12262821	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.75244991660295E-4	0.064
18	12262820	T	C	18	12262821	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.08034634099558E-4	0.002
18	12262820	T	G	18	12262821	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.54159756568163E-4	0.004
18	12262821	C	A	18	12262822	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.170432365842581	0.332
18	12262821	C	G	18	12262822	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999492925792725	0.844
18	12262821	C	T	18	12262822	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00455936302952584	0.054
18	12262822	A	C	18	12262823	y	y	splicing	CIDEA(NM_001279:exon2:c.39-2A>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.39-2A>C;ENST00000522713:exon2:c.574-2A>C)	.	.	0.999989917668626	0.926
18	12262822	A	G	18	12262823	y	y	splicing	CIDEA(NM_001279:exon2:c.39-2A>G)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.39-2A>G;ENST00000522713:exon2:c.574-2A>G)	.	.	0.999989917668626	0.926
18	12262822	A	T	18	12262823	y	y	splicing	CIDEA(NM_001279:exon2:c.39-2A>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.39-2A>T;ENST00000522713:exon2:c.574-2A>T)	.	.	0.999989917668626	0.926
18	12262823	G	A	18	12262824	y	y	splicing	CIDEA(NM_001279:exon2:c.39-1G>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.39-1G>A;ENST00000522713:exon2:c.574-1G>A)	.	.	0.999981760802075	0.942
18	12262823	G	C	18	12262824	y	y	splicing	CIDEA(NM_001279:exon2:c.39-1G>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.39-1G>C;ENST00000522713:exon2:c.574-1G>C)	.	.	0.999981760802075	0.944
18	12262823	G	T	18	12262824	y	y	splicing	CIDEA(NM_001279:exon2:c.39-1G>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.39-1G>T;ENST00000522713:exon2:c.574-1G>T)	.	.	0.999981760802075	0.896
18	12262824	G	A	18	12262825	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon2:c.G39A:p.R13R;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000522713:exon2:c.G574A:p.A192T;	0.0772235120990323	0.258
18	12262824	G	C	18	12262825	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.G39C:p.R13S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.G39C:p.R13S;ENSG00000176194:ENST00000522713:exon2:c.G574C:p.A192P;	0.941398570595526	0.784
18	12262824	G	T	18	12262825	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.G39T:p.R13S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.G39T:p.R13S;ENSG00000176194:ENST00000522713:exon2:c.G574T:p.A192S;	0.979256233060249	0.828
18	12262825	C	A	18	12262826	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.C40A:p.P14T;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.C40A:p.P14T;ENSG00000176194:ENST00000522713:exon2:c.C575A:p.A192D;	0.00119243464030166	0.006
18	12262825	C	G	18	12262826	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.C40G:p.P14A;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.C40G:p.P14A;ENSG00000176194:ENST00000522713:exon2:c.C575G:p.A192G;	1.66052371609264E-4	0.026
18	12262825	C	T	18	12262826	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.C40T:p.P14S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.C40T:p.P14S;ENSG00000176194:ENST00000522713:exon2:c.C575T:p.A192V;	1.04625636523957E-4	0.004
18	12262966	A	C	18	12262967	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.A181C:p.K61Q;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.A181C:p.K61Q;	0.78411265811487	0.716
18	12262966	A	G	18	12262967	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.A181G:p.K61E;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.A181G:p.K61E;	0.799536539469497	0.532
18	12262966	A	T	18	12262967	y	y	exonic	CIDEA	stopgain SNV	CIDEA:NM_001279:exon2:c.A181T:p.K61X;	exonic	ENSG00000176194	stopgain SNV	ENSG00000176194:ENST00000320477:exon2:c.A181T:p.K61X;	0.999106050846082	0.898
18	12262967	A	C	18	12262968	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.A182C:p.K61T;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.A182C:p.K61T;	0.999879578075821	0.99
18	12262967	A	G	18	12262968	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.A182G:p.K61R;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.A182G:p.K61R;	0.99997210068628	0.992
18	12262967	A	T	18	12262968	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.A182T:p.K61M;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.A182T:p.K61M;	0.999960187153373	0.99
18	12262968	G	A	18	12262969	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon2:c.G183A:p.K61K;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.G183A:p.K61K;	0.9999751926865	1.0
18	12262968	G	C	18	12262969	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.G183C:p.K61N;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.G183C:p.K61N;	0.999994069695048	0.988
18	12262968	G	T	18	12262969	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon2:c.G183T:p.K61N;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon2:c.G183T:p.K61N;	0.999988543238541	1.0
18	12262969	G	A	18	12262970	y	y	splicing	CIDEA(NM_001279:exon2:c.183+1G>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.183+1G>A;ENST00000522713:exon2:c.718+1G>A)	.	.	0.999979422316293	0.95
18	12262969	G	C	18	12262970	y	y	splicing	CIDEA(NM_001279:exon2:c.183+1G>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.183+1G>C;ENST00000522713:exon2:c.718+1G>C)	.	.	0.999979422316293	0.95
18	12262969	G	T	18	12262970	y	y	splicing	CIDEA(NM_001279:exon2:c.183+1G>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.183+1G>T;ENST00000522713:exon2:c.718+1G>T)	.	.	0.999979422316293	0.95
18	12262970	T	A	18	12262971	y	y	splicing	CIDEA(NM_001279:exon2:c.183+2T>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.183+2T>A;ENST00000522713:exon2:c.718+2T>A)	.	.	0.999988624979899	0.944
18	12262970	T	C	18	12262971	y	y	splicing	CIDEA(NM_001279:exon2:c.183+2T>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.183+2T>C;ENST00000522713:exon2:c.718+2T>C)	.	.	0.999941134618682	0.892
18	12262970	T	G	18	12262971	y	y	splicing	CIDEA(NM_001279:exon2:c.183+2T>G)	.	.	splicing	ENSG00000176194(ENST00000320477:exon2:c.183+2T>G;ENST00000522713:exon2:c.718+2T>G)	.	.	0.999988624979899	0.944
18	12262971	G	A	18	12262972	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.94108097411731E-5	0.064
18	12262971	G	C	18	12262972	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.534048684649119	0.544
18	12262971	G	T	18	12262972	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.832728104502228	0.556
18	12262972	C	A	18	12262973	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.62014955264471E-5	0.128
18	12262972	C	G	18	12262973	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00376462871234826	0.24
18	12262972	C	T	18	12262973	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0194171441800166	0.22
18	12262973	C	A	18	12262974	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.10303279750321E-4	0.018
18	12262973	C	G	18	12262974	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.96524807088456E-5	0.004
18	12262973	C	T	18	12262974	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00335214445846902	0.038
18	12262974	C	A	18	12262975	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.38404415707938E-4	0.172
18	12262974	C	G	18	12262975	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.71757268761631E-5	0.076
18	12262974	C	T	18	12262975	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.62054562396605E-5	0.07
18	12262975	C	A	18	12262976	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.17557218228845E-5	0.016
18	12262975	C	G	18	12262976	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.93718364281858E-5	0.0
18	12262975	C	T	18	12262976	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.08627997007617E-5	0.012
18	12262976	A	C	18	12262977	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.46690931440911E-5	0.0
18	12262976	A	G	18	12262977	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.46690931440911E-5	0.0
18	12262976	A	T	18	12262977	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.44454674516076E-5	0.0
18	12263587	T	A	18	12263588	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.12708559664017E-4	0.0
18	12263587	T	C	18	12263588	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.68632724264029E-5	0.0
18	12263587	T	G	18	12263588	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.68632724264029E-5	0.0
18	12263588	T	A	18	12263589	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.88992323336319E-4	0.024
18	12263588	T	C	18	12263589	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.23008612738095E-4	0.024
18	12263588	T	G	18	12263589	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.23008612738095E-4	0.032
18	12263589	C	A	18	12263590	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.91918072700513E-5	0.002
18	12263589	C	G	18	12263590	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.75289494538373E-5	0.002
18	12263589	C	T	18	12263590	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.36567682305367E-5	0.002
18	12263590	T	A	18	12263591	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.68256441675417E-5	0.0
18	12263590	T	C	18	12263591	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.57898459540622E-5	0.0
18	12263590	T	G	18	12263591	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.57898459540622E-5	0.0
18	12263591	T	A	18	12263592	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	7.91761563972371E-5	0.0
18	12263591	T	C	18	12263592	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	7.91761563972371E-5	0.0
18	12263591	T	G	18	12263592	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	7.91761563972371E-5	0.0
18	12263592	T	A	18	12263593	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.38118228050303E-4	0.02
18	12263592	T	C	18	12263593	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.38118228050303E-4	0.02
18	12263592	T	G	18	12263593	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.38118228050303E-4	0.02
18	12263593	G	A	18	12263594	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.52932449848953E-5	0.002
18	12263593	G	C	18	12263594	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.52932449848953E-5	0.012
18	12263593	G	T	18	12263594	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.52932449848953E-5	0.002
18	12263594	A	C	18	12263595	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.65959444057763E-5	0.01
18	12263594	A	G	18	12263595	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.65959444057763E-5	0.01
18	12263594	A	T	18	12263595	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.65959444057763E-5	0.01
18	12263595	C	A	18	12263596	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.00286289604843E-5	0.0
18	12263595	C	G	18	12263596	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.00286289604843E-5	0.0
18	12263595	C	T	18	12263596	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.00286289604843E-5	0.0
18	12263596	A	C	18	12263597	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.80465223468383E-5	0.034
18	12263596	A	G	18	12263597	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.80465223468383E-5	0.034
18	12263596	A	T	18	12263597	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.10529984002121E-5	0.04
18	12263597	A	C	18	12263598	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.719-2A>C)	.	.	8.44656497212392E-5	0.0
18	12263597	A	G	18	12263598	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.719-2A>G)	.	.	8.44656497212392E-5	0.0
18	12263597	A	T	18	12263598	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.719-2A>T)	.	.	3.85062238621114E-5	0.0
18	12263598	G	A	18	12263599	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.719-1G>A)	.	.	3.07620641825897E-5	0.0
18	12263598	G	C	18	12263599	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.719-1G>C)	.	.	3.07620641825897E-5	0.0
18	12263598	G	T	18	12263599	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.719-1G>T)	.	.	3.07620641825897E-5	0.0
18	12263599	G	A	18	12263600	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	6.93427876845877E-5	0.006
18	12263599	G	C	18	12263600	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	3.33614307896177E-5	0.0
18	12263599	G	T	18	12263600	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	3.33614307896177E-5	0.002
18	12263600	G	A	18	12263601	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	3.78205327723092E-5	0.006
18	12263600	G	C	18	12263601	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	3.78205327723092E-5	0.004
18	12263600	G	T	18	12263601	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	3.78205327723092E-5	0.004
18	12263863	T	A	18	12263864	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	5.86075475573093E-5	0.0
18	12263863	T	C	18	12263864	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	5.86075475573093E-5	0.0
18	12263863	T	G	18	12263864	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	5.86075475573093E-5	0.008
18	12263864	A	C	18	12263865	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	2.33815804894828E-5	0.0
18	12263864	A	G	18	12263865	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	2.33815804894828E-5	0.0
18	12263864	A	T	18	12263865	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	2.33815804894828E-5	0.0
18	12263865	G	A	18	12263866	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	9.27237026149931E-5	0.0
18	12263865	G	C	18	12263866	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	9.27237026149931E-5	0.004
18	12263865	G	T	18	12263866	n	y	intronic	CIDEA	.	.	UTR3	ENSG00000176194	.	.	9.27237026149931E-5	0.0
18	12263866	G	A	18	12263867	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.985+1G>A)	.	.	1.00626085777549E-4	0.002
18	12263866	G	C	18	12263867	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.985+1G>C)	.	.	5.80793394726513E-5	0.002
18	12263866	G	T	18	12263867	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.985+1G>T)	.	.	1.00626085777549E-4	0.002
18	12263867	T	A	18	12263868	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.985+2T>A)	.	.	6.46844991217429E-5	0.0
18	12263867	T	C	18	12263868	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.985+2T>C)	.	.	1.17564447662592E-4	0.0
18	12263867	T	G	18	12263868	n	y	intronic	CIDEA	.	.	splicing	ENSG00000176194(ENST00000522713:exon3:c.985+2T>G)	.	.	1.17564447662592E-4	0.0
18	12263868	A	C	18	12263869	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.06520082605731E-4	0.0
18	12263868	A	G	18	12263869	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.06520082605731E-4	0.0
18	12263868	A	T	18	12263869	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.17564447662592E-4	0.0
18	12263869	A	C	18	12263870	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.35428655471156E-5	0.006
18	12263869	A	G	18	12263870	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.35428655471156E-5	0.006
18	12263869	A	T	18	12263870	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	7.01315188657279E-5	0.004
18	12263870	T	A	18	12263871	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.5651062100244E-4	0.016
18	12263870	T	C	18	12263871	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.66968258928897E-4	0.016
18	12263870	T	G	18	12263871	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.66968258928897E-4	0.016
18	12263871	C	A	18	12263872	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.97104693658708E-4	0.016
18	12263871	C	G	18	12263872	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.97104693658708E-4	0.016
18	12263871	C	T	18	12263872	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.52559106735794E-4	0.016
18	12263872	T	A	18	12263873	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.46844991217429E-5	0.0
18	12263872	T	C	18	12263873	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.17564447662592E-4	0.004
18	12263872	T	G	18	12263873	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.17564447662592E-4	0.0
18	12263873	T	A	18	12263874	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.2194139863653E-4	0.004
18	12263873	T	C	18	12263874	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.53098918991421E-5	0.004
18	12263873	T	G	18	12263874	n	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.53098918991421E-5	0.004
18	12264294	T	A	18	12264295	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0107683241811703	0.36
18	12264294	T	C	18	12264295	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.44848714421386E-4	0.038
18	12264294	T	G	18	12264295	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0118698936682365	0.35
18	12264295	T	A	18	12264296	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.99976946576028	0.928
18	12264295	T	C	18	12264296	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00518923898068304	0.262
18	12264295	T	G	18	12264296	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.93993757060772	0.686
18	12264296	G	A	18	12264297	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00344892444313514	0.136
18	12264296	G	C	18	12264297	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00126947498560502	0.052
18	12264296	G	T	18	12264297	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00126947498560502	0.062
18	12264297	C	A	18	12264298	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.07152285870892E-4	0.104
18	12264297	C	G	18	12264298	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0037563331245304	0.14
18	12264297	C	T	18	12264298	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.36075529294758E-4	0.026
18	12264298	A	C	18	12264299	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.08387233757793E-5	0.002
18	12264298	A	G	18	12264299	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.22721792016374E-5	0.012
18	12264298	A	T	18	12264299	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.43099908483724E-5	0.022
18	12264299	C	A	18	12264300	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.91405002633366E-4	0.13
18	12264299	C	G	18	12264300	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.806515782836277	0.7
18	12264299	C	T	18	12264300	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.47229030406425E-5	0.004
18	12264300	A	C	18	12264301	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00118608066952055	0.072
18	12264300	A	G	18	12264301	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.59167836263057E-4	0.06
18	12264300	A	T	18	12264301	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0025139776523679	0.068
18	12264301	C	A	18	12264302	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.53473502470691E-4	0.206
18	12264301	C	G	18	12264302	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999794379274977	0.936
18	12264301	C	T	18	12264302	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.2325307659416E-5	0.106
18	12264302	C	A	18	12264303	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.14424842546972E-4	0.042
18	12264302	C	G	18	12264303	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.49330102624702E-5	0.016
18	12264302	C	T	18	12264303	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.37274153201859E-4	0.034
18	12264303	T	A	18	12264304	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.228930306923015	0.418
18	12264303	T	C	18	12264304	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.95387661213516E-4	0.03
18	12264303	T	G	18	12264304	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.726556317652711	0.558
18	12264304	A	C	18	12264305	y	y	splicing	CIDEA(NM_001279:exon3:c.184-2A>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.184-2A>C;ENST00000522713:exon4:c.986-2A>C)	.	.	0.999939162172471	0.888
18	12264304	A	G	18	12264305	y	y	splicing	CIDEA(NM_001279:exon3:c.184-2A>G)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.184-2A>G;ENST00000522713:exon4:c.986-2A>G)	.	.	0.999939162172471	0.888
18	12264304	A	T	18	12264305	y	y	splicing	CIDEA(NM_001279:exon3:c.184-2A>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.184-2A>T;ENST00000522713:exon4:c.986-2A>T)	.	.	0.999939162172471	0.874
18	12264305	G	A	18	12264306	y	y	splicing	CIDEA(NM_001279:exon3:c.184-1G>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.184-1G>A;ENST00000522713:exon4:c.986-1G>A)	.	.	0.999967333810793	0.872
18	12264305	G	C	18	12264306	y	y	splicing	CIDEA(NM_001279:exon3:c.184-1G>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.184-1G>C;ENST00000522713:exon4:c.986-1G>C)	.	.	0.999967333810793	0.886
18	12264305	G	T	18	12264306	y	y	splicing	CIDEA(NM_001279:exon3:c.184-1G>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.184-1G>T;ENST00000522713:exon4:c.986-1G>T)	.	.	0.999967333810793	0.872
18	12264306	A	C	18	12264307	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.A184C:p.T62P;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.A184C:p.T62P;	3.41243727059725E-4	0.188
18	12264306	A	G	18	12264307	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.A184G:p.T62A;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.A184G:p.T62A;	1.21467018952424E-4	0.024
18	12264306	A	T	18	12264307	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.A184T:p.T62S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.A184T:p.T62S;	0.00345181756457522	0.044
18	12264307	C	A	18	12264308	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C185A:p.T62N;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C185A:p.T62N;	0.962544869515014	0.538
18	12264307	C	G	18	12264308	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C185G:p.T62S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C185G:p.T62S;	0.24609425999255	0.298
18	12264307	C	T	18	12264308	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C185T:p.T62I;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C185T:p.T62I;	0.00640029105817486	0.058
18	12264450	C	A	18	12264451	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C328A:p.P110T;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C328A:p.P110T;	0.756282431399168	0.51
18	12264450	C	G	18	12264451	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C328G:p.P110A;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C328G:p.P110A;	0.0178601596295259	0.114
18	12264450	C	T	18	12264451	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C328T:p.P110S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C328T:p.P110S;	0.449588608976627	0.416
18	12264451	C	A	18	12264452	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C329A:p.P110Q;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C329A:p.P110Q;	4.00092499278293E-5	0.052
18	12264451	C	G	18	12264452	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C329G:p.P110R;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C329G:p.P110R;	3.07031694041761E-5	0.098
18	12264451	C	T	18	12264452	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon3:c.C329T:p.P110L;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.C329T:p.P110L;	5.32090230718486E-5	0.042
18	12264452	G	A	18	12264453	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon3:c.G330A:p.P110P;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.G330A:p.P110P;	0.996012801984545	0.87
18	12264452	G	C	18	12264453	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon3:c.G330C:p.P110P;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.G330C:p.P110P;	0.999974652895221	0.92
18	12264452	G	T	18	12264453	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon3:c.G330T:p.P110P;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon3:c.G330T:p.P110P;	0.999484070217979	0.922
18	12264453	G	A	18	12264454	y	y	splicing	CIDEA(NM_001279:exon3:c.330+1G>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.330+1G>A;ENST00000522713:exon4:c.1132+1G>A)	.	.	0.999972155025474	0.88
18	12264453	G	C	18	12264454	y	y	splicing	CIDEA(NM_001279:exon3:c.330+1G>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.330+1G>C;ENST00000522713:exon4:c.1132+1G>C)	.	.	0.999969255906173	0.852
18	12264453	G	T	18	12264454	y	y	splicing	CIDEA(NM_001279:exon3:c.330+1G>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.330+1G>T;ENST00000522713:exon4:c.1132+1G>T)	.	.	0.999969255906173	0.874
18	12264454	T	A	18	12264455	y	y	splicing	CIDEA(NM_001279:exon3:c.330+2T>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.330+2T>A;ENST00000522713:exon4:c.1132+2T>A)	.	.	0.999985353572514	0.866
18	12264454	T	C	18	12264455	y	y	splicing	CIDEA(NM_001279:exon3:c.330+2T>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.330+2T>C;ENST00000522713:exon4:c.1132+2T>C)	.	.	0.99971468338691	0.842
18	12264454	T	G	18	12264455	y	y	splicing	CIDEA(NM_001279:exon3:c.330+2T>G)	.	.	splicing	ENSG00000176194(ENST00000320477:exon3:c.330+2T>G;ENST00000522713:exon4:c.1132+2T>G)	.	.	0.99998382861657	0.842
18	12264455	A	C	18	12264456	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.995919848663051	0.824
18	12264455	A	G	18	12264456	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00185177009725546	0.126
18	12264455	A	T	18	12264456	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999347348506526	0.79
18	12264456	A	C	18	12264457	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.205880143368056	0.51
18	12264456	A	G	18	12264457	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.588929774250924	0.438
18	12264456	A	T	18	12264457	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.837854562641714	0.516
18	12264457	G	A	18	12264458	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.99419413356928	0.706
18	12264457	G	C	18	12264458	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999255331652053	0.846
18	12264457	G	T	18	12264458	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.998303896187738	0.738
18	12264458	C	A	18	12264459	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.44206299895129E-4	0.002
18	12264458	C	G	18	12264459	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.55645117770818E-5	0.018
18	12264458	C	T	18	12264459	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.40886065434894E-5	0.0
18	12264459	A	C	18	12264460	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.15941453541388E-5	0.0
18	12264459	A	G	18	12264460	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.68216876595996E-5	0.0
18	12264459	A	T	18	12264460	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.73659410988803E-5	0.0
18	12264460	A	C	18	12264461	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.0670753206699E-4	0.006
18	12264460	A	G	18	12264461	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.55826342655592E-4	0.014
18	12264460	A	T	18	12264461	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.4076558401562E-4	0.006
18	12274080	C	A	18	12274081	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00103319715784033	0.054
18	12274080	C	G	18	12274081	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00167327974231423	0.068
18	12274080	C	T	18	12274081	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.55955572115086E-5	0.0
18	12274081	C	A	18	12274082	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00203757368033202	0.056
18	12274081	C	G	18	12274082	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00308548088806086	0.132
18	12274081	C	T	18	12274082	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.31018996765595E-4	0.0
18	12274082	A	C	18	12274083	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.59286769884809E-5	0.014
18	12274082	A	G	18	12274083	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.13236253335679E-5	0.002
18	12274082	A	T	18	12274083	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.51983032046199E-5	0.002
18	12274083	T	A	18	12274084	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0243346254990813	0.282
18	12274083	T	C	18	12274084	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.04983834312392E-4	0.002
18	12274083	T	G	18	12274084	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999917409254651	0.922
18	12274084	T	A	18	12274085	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999802064520135	0.938
18	12274084	T	C	18	12274085	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.01347027124773E-5	0.0
18	12274084	T	G	18	12274085	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00539146181891367	0.266
18	12274085	G	A	18	12274086	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.52058306673792E-5	0.014
18	12274085	G	C	18	12274086	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.24462446772325E-5	0.004
18	12274085	G	T	18	12274086	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.250243698046E-5	0.0
18	12274086	T	A	18	12274087	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00383312005423698	0.11
18	12274086	T	C	18	12274087	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.84860630854301E-6	0.0
18	12274086	T	G	18	12274087	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0183435024966137	0.124
18	12274087	C	A	18	12274088	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.56954198173392E-4	0.02
18	12274087	C	G	18	12274088	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	4.35087569718887E-4	0.028
18	12274087	C	T	18	12274088	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.95076949036759E-5	0.0
18	12274088	A	C	18	12274089	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.39374282911773E-5	0.002
18	12274088	A	G	18	12274089	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.28095991200051E-5	0.0
18	12274088	A	T	18	12274089	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.92286490261582E-5	0.002
18	12274089	C	A	18	12274090	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.529141070439658	0.562
18	12274089	C	G	18	12274090	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.997536789225004	0.866
18	12274089	C	T	18	12274090	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.16953080986982E-4	0.02
18	12274090	A	C	18	12274091	y	y	splicing	CIDEA(NM_001279:exon4:c.331-2A>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.331-2A>C;ENST00000522713:exon5:c.1133-2A>C)	.	.	0.99994568797423	0.93
18	12274090	A	G	18	12274091	y	y	splicing	CIDEA(NM_001279:exon4:c.331-2A>G)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.331-2A>G;ENST00000522713:exon5:c.1133-2A>G)	.	.	0.99994568797423	0.93
18	12274090	A	T	18	12274091	y	y	splicing	CIDEA(NM_001279:exon4:c.331-2A>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.331-2A>T;ENST00000522713:exon5:c.1133-2A>T)	.	.	0.99994568797423	0.926
18	12274091	G	A	18	12274092	y	y	splicing	CIDEA(NM_001279:exon4:c.331-1G>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.331-1G>A;ENST00000522713:exon5:c.1133-1G>A)	.	.	0.999915710762489	0.93
18	12274091	G	C	18	12274092	y	y	splicing	CIDEA(NM_001279:exon4:c.331-1G>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.331-1G>C;ENST00000522713:exon5:c.1133-1G>C)	.	.	0.999915710762489	0.93
18	12274091	G	T	18	12274092	y	y	splicing	CIDEA(NM_001279:exon4:c.331-1G>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.331-1G>T;ENST00000522713:exon5:c.1133-1G>T)	.	.	0.999915710762489	0.93
18	12274092	G	A	18	12274093	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G331A:p.G111S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G331A:p.G111S;	0.0502526838234595	0.302
18	12274092	G	C	18	12274093	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G331C:p.G111R;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G331C:p.G111R;	0.0869657970668697	0.406
18	12274092	G	T	18	12274093	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G331T:p.G111C;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G331T:p.G111C;	0.995449877337969	0.926
18	12274093	G	A	18	12274094	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G332A:p.G111D;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G332A:p.G111D;	8.93092338269633E-5	0.0
18	12274093	G	C	18	12274094	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G332C:p.G111A;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G332C:p.G111A;	7.04179404740796E-5	0.0
18	12274093	G	T	18	12274094	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G332T:p.G111V;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G332T:p.G111V;	7.30527311046719E-5	0.0
18	12274271	G	A	18	12274272	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon4:c.G510A:p.L170L;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G510A:p.L170L;	1.26950214116909E-4	0.0
18	12274271	G	C	18	12274272	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon4:c.G510C:p.L170L;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G510C:p.L170L;	1.56319076285186E-4	0.004
18	12274271	G	T	18	12274272	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon4:c.G510T:p.L170L;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G510T:p.L170L;	0.025502628070254	0.23
18	12274272	A	C	18	12274273	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon4:c.A511C:p.R171R;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.A511C:p.R171R;	0.99982310214819	0.996
18	12274272	A	G	18	12274273	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.A511G:p.R171G;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.A511G:p.R171G;	0.999966585813071	0.996
18	12274272	A	T	18	12274273	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.A511T:p.R171W;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.A511T:p.R171W;	0.999955971088423	0.994
18	12274273	G	A	18	12274274	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G512A:p.R171K;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G512A:p.R171K;	0.999985458483098	1.0
18	12274273	G	C	18	12274274	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G512C:p.R171T;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G512C:p.R171T;	0.999991457337592	1.0
18	12274273	G	T	18	12274274	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon4:c.G512T:p.R171M;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon4:c.G512T:p.R171M;	0.999979016258176	0.994
18	12274274	G	A	18	12274275	y	y	splicing	CIDEA(NM_001279:exon4:c.512+1G>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.512+1G>A;ENST00000522713:exon5:c.1314+1G>A)	.	.	0.999981760802075	0.944
18	12274274	G	C	18	12274275	y	y	splicing	CIDEA(NM_001279:exon4:c.512+1G>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.512+1G>C;ENST00000522713:exon5:c.1314+1G>C)	.	.	0.999981760802075	0.944
18	12274274	G	T	18	12274275	y	y	splicing	CIDEA(NM_001279:exon4:c.512+1G>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.512+1G>T;ENST00000522713:exon5:c.1314+1G>T)	.	.	0.999981760802075	0.944
18	12274275	T	A	18	12274276	y	y	splicing	CIDEA(NM_001279:exon4:c.512+2T>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.512+2T>A;ENST00000522713:exon5:c.1314+2T>A)	.	.	0.999989917668626	0.928
18	12274275	T	C	18	12274276	y	y	splicing	CIDEA(NM_001279:exon4:c.512+2T>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.512+2T>C;ENST00000522713:exon5:c.1314+2T>C)	.	.	0.993179459523591	0.636
18	12274275	T	G	18	12274276	y	y	splicing	CIDEA(NM_001279:exon4:c.512+2T>G)	.	.	splicing	ENSG00000176194(ENST00000320477:exon4:c.512+2T>G;ENST00000522713:exon5:c.1314+2T>G)	.	.	0.999989917668626	0.928
18	12274276	A	C	18	12274277	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999936433941174	0.96
18	12274276	A	G	18	12274277	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.998103498057918	0.97
18	12274276	A	T	18	12274277	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999936433941174	0.96
18	12274277	A	C	18	12274278	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.729377220693955	0.548
18	12274277	A	G	18	12274278	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.969500309911823	0.742
18	12274277	A	T	18	12274278	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.603297671708862	0.548
18	12274278	C	A	18	12274279	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.17476920313471E-5	0.018
18	12274278	C	G	18	12274279	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.6775570678142E-4	0.01
18	12274278	C	T	18	12274279	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.03297309823184E-4	0.002
18	12274279	A	C	18	12274280	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.52006987699933E-4	0.012
18	12274279	A	G	18	12274280	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.75929945303278E-4	0.0
18	12274279	A	T	18	12274280	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	5.76461524785294E-5	0.014
18	12274280	C	A	18	12274281	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.39482774895477E-5	0.002
18	12274280	C	G	18	12274281	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.14077435046734E-4	0.004
18	12274280	C	T	18	12274281	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.84752055365222E-4	0.002
18	12274281	A	C	18	12274282	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.22052569811162E-5	0.0
18	12274281	A	G	18	12274282	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.72921863071145E-5	0.0
18	12274281	A	T	18	12274282	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	7.12549792797431E-5	0.0
18	12277110	C	A	18	12277111	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.00001108057726E-5	0.004
18	12277110	C	G	18	12277111	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.3497836685824E-4	0.01
18	12277110	C	T	18	12277111	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.7634072299745E-5	0.0
18	12277111	C	A	18	12277112	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.85045604008613E-4	0.022
18	12277111	C	G	18	12277112	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	6.90407843574153E-5	0.012
18	12277111	C	T	18	12277112	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.16985738722982E-4	0.004
18	12277112	T	A	18	12277113	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0203212045546037	0.23
18	12277112	T	C	18	12277113	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.51472449637441E-5	0.004
18	12277112	T	G	18	12277113	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.0799055816072741	0.266
18	12277113	C	A	18	12277114	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.92638479718248E-4	0.058
18	12277113	C	G	18	12277114	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.3848602585248E-4	0.012
18	12277113	C	T	18	12277114	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	3.02085807807573E-5	0.0
18	12277114	T	A	18	12277115	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999846047915656	0.996
18	12277114	T	C	18	12277115	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.68117942255228E-4	0.002
18	12277114	T	G	18	12277115	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00212399452910565	0.124
18	12277115	G	A	18	12277116	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.03564878261518E-5	0.02
18	12277115	G	C	18	12277116	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.88650206532096E-5	0.02
18	12277115	G	T	18	12277116	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.16000666452838E-5	0.0
18	12277116	C	A	18	12277117	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00111057683952542	0.076
18	12277116	C	G	18	12277117	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	9.7323365888491E-4	0.068
18	12277116	C	T	18	12277117	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.60512154243887E-5	0.0
18	12277117	C	A	18	12277118	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	8.64489846518041E-5	0.004
18	12277117	C	G	18	12277118	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.72160936473553E-4	0.026
18	12277117	C	T	18	12277118	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.05156065868424E-5	0.0
18	12277118	A	C	18	12277119	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.00078983478867E-5	0.002
18	12277118	A	G	18	12277119	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	1.51493585226928E-5	0.0
18	12277118	A	T	18	12277119	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	2.75956839510156E-5	0.0
18	12277119	C	A	18	12277120	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.942495495294048	0.674
18	12277119	C	G	18	12277120	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.999671415929645	0.928
18	12277119	C	T	18	12277120	y	y	intronic	CIDEA	.	.	intronic	ENSG00000176194	.	.	0.00140317493069617	0.136
18	12277120	A	C	18	12277121	y	y	splicing	CIDEA(NM_001279:exon5:c.513-2A>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon5:c.513-2A>C;ENST00000522713:exon6:c.1315-2A>C)	.	.	0.999989614548265	0.778
18	12277120	A	G	18	12277121	y	y	splicing	CIDEA(NM_001279:exon5:c.513-2A>G)	.	.	splicing	ENSG00000176194(ENST00000320477:exon5:c.513-2A>G;ENST00000522713:exon6:c.1315-2A>G)	.	.	0.999989614548265	0.778
18	12277120	A	T	18	12277121	y	y	splicing	CIDEA(NM_001279:exon5:c.513-2A>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon5:c.513-2A>T;ENST00000522713:exon6:c.1315-2A>T)	.	.	0.999980516178445	0.8
18	12277121	G	A	18	12277122	y	y	splicing	CIDEA(NM_001279:exon5:c.513-1G>A)	.	.	splicing	ENSG00000176194(ENST00000320477:exon5:c.513-1G>A;ENST00000522713:exon6:c.1315-1G>A)	.	.	0.999962958601995	0.808
18	12277121	G	C	18	12277122	y	y	splicing	CIDEA(NM_001279:exon5:c.513-1G>C)	.	.	splicing	ENSG00000176194(ENST00000320477:exon5:c.513-1G>C;ENST00000522713:exon6:c.1315-1G>C)	.	.	0.999980255680118	0.784
18	12277121	G	T	18	12277122	y	y	splicing	CIDEA(NM_001279:exon5:c.513-1G>T)	.	.	splicing	ENSG00000176194(ENST00000320477:exon5:c.513-1G>T;ENST00000522713:exon6:c.1315-1G>T)	.	.	0.999962958601995	0.798
18	12277122	G	A	18	12277123	y	y	exonic	CIDEA	synonymous SNV	CIDEA:NM_001279:exon5:c.G513A:p.R171R;	exonic	ENSG00000176194	synonymous SNV	ENSG00000176194:ENST00000320477:exon5:c.G513A:p.R171R;	0.00234003027267689	0.176
18	12277122	G	C	18	12277123	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon5:c.G513C:p.R171S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon5:c.G513C:p.R171S;	0.582312108981512	0.616
18	12277122	G	T	18	12277123	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon5:c.G513T:p.R171S;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon5:c.G513T:p.R171S;	0.949956081424212	0.73
18	12277123	A	C	18	12277124	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon5:c.A514C:p.S172R;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon5:c.A514C:p.S172R;	0.00326388150707761	0.048
18	12277123	A	G	18	12277124	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon5:c.A514G:p.S172G;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon5:c.A514G:p.S172G;	0.0032768115856123	0.034
18	12277123	A	T	18	12277124	y	y	exonic	CIDEA	nonsynonymous SNV	CIDEA:NM_001279:exon5:c.A514T:p.S172C;	exonic	ENSG00000176194	nonsynonymous SNV	ENSG00000176194:ENST00000320477:exon5:c.A514T:p.S172C;	0.00864801359030929	0.114
18	12307766	A	C	18	12307767	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	6.35428655471156E-5	0.004
18	12307766	A	G	18	12307767	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	6.35428655471156E-5	0.004
18	12307766	A	T	18	12307767	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	7.01315188657279E-5	0.002
18	12307767	A	C	18	12307768	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	0.00138407860929702	0.01
18	12307767	A	G	18	12307768	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	0.00138407860929702	0.01
18	12307767	A	T	18	12307768	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	0.00110797651291257	0.01
18	12307768	C	A	18	12307769	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	3.12051756480288E-5	0.0
18	12307768	C	G	18	12307769	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	3.12051756480288E-5	0.0
18	12307768	C	T	18	12307769	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	3.12051756480288E-5	0.0
18	12307769	G	A	18	12307770	n	y	upstream	TUBB6	.	.	splicing	ENSG00000176014	.	.	2.94615721382208E-5	0.002
18	12307769	G	C	18	12307770	n	y	upstream	TUBB6	.	.	splicing	ENSG00000176014	.	.	2.36681691224865E-5	0.002
18	12307769	G	T	18	12307770	n	y	upstream	TUBB6	.	.	splicing	ENSG00000176014	.	.	2.36681691224865E-5	0.002
18	12307770	T	A	18	12307771	n	y	upstream	TUBB6	.	.	splicing	ENSG00000176014	.	.	6.25950167179411E-5	0.0
18	12307770	T	C	18	12307771	n	y	upstream	TUBB6	.	.	splicing	ENSG00000176014	.	.	5.6714355815838E-5	0.002
18	12307770	T	G	18	12307771	n	y	upstream	TUBB6	.	.	splicing	ENSG00000176014	.	.	5.6714355815838E-5	0.002
18	12307771	G	A	18	12307772	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.16682635439002E-5	0.0
18	12307771	G	C	18	12307772	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.39083642728588E-5	0.0
18	12307771	G	T	18	12307772	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.39083642728588E-5	0.0
18	12307772	T	A	18	12307773	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.94615721382208E-5	0.066
18	12307772	T	C	18	12307773	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.94615721382208E-5	0.0
18	12307772	T	G	18	12307773	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.94615721382208E-5	0.0
18	12307773	G	A	18	12307774	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.19523722086209E-5	0.0
18	12307773	G	C	18	12307774	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.19523722086209E-5	0.0
18	12307773	G	T	18	12307774	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.19523722086209E-5	0.0
18	12307774	C	A	18	12307775	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.40839623268995E-5	0.0
18	12307774	C	G	18	12307775	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.90028566392549E-5	0.0
18	12307774	C	T	18	12307775	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.40839623268995E-5	0.0
18	12307775	C	A	18	12307776	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.45170072801036E-5	0.016
18	12307775	C	G	18	12307776	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.45170072801036E-5	0.016
18	12307775	C	T	18	12307776	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.45170072801036E-5	0.016
18	12307776	C	A	18	12307777	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.86764315709017E-5	0.0
18	12307776	C	G	18	12307777	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.86764315709017E-5	0.0
18	12307776	C	T	18	12307777	n	y	upstream	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.86764315709017E-5	0.0
18	12308249	T	A	18	12308250	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.02056512274483E-4	0.012
18	12308249	T	C	18	12308250	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.49229997755661E-4	0.02
18	12308249	T	G	18	12308250	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.49229997755661E-4	0.016
18	12308250	G	A	18	12308251	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	4.21649339220785E-5	0.0
18	12308250	G	C	18	12308251	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	4.21649339220785E-5	0.0
18	12308250	G	T	18	12308251	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	4.21649339220785E-5	0.0
18	12308251	T	A	18	12308252	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.76946738234982E-4	0.012
18	12308251	T	C	18	12308252	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.94376880827451E-4	0.02
18	12308251	T	G	18	12308252	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.94376880827451E-4	0.024
18	12308252	C	A	18	12308253	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	2.89903870182886E-4	0.016
18	12308252	C	G	18	12308253	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	2.58747978499148E-4	0.006
18	12308252	C	T	18	12308253	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	2.89903870182886E-4	0.014
18	12308253	G	A	18	12308254	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.49229997755661E-4	0.04
18	12308253	G	C	18	12308254	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	7.46159564530913E-5	0.002
18	12308253	G	T	18	12308254	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	9.73186234223837E-5	0.008
18	12308254	T	A	18	12308255	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.70037401259287E-4	0.006
18	12308254	T	C	18	12308255	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	2.23481599293639E-4	0.004
18	12308254	T	G	18	12308255	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	2.23481599293639E-4	0.004
18	12308255	C	A	18	12308256	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	8.75207953111884E-5	0.002
18	12308255	C	G	18	12308256	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	9.61428803656778E-5	0.002
18	12308255	C	T	18	12308256	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	8.75207953111884E-5	0.002
18	12308256	C	A	18	12308257	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	7.75002676380762E-5	0.008
18	12308256	C	G	18	12308257	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	7.75002676380762E-5	0.002
18	12308256	C	T	18	12308257	n	y	upstream	TUBB6	.	.	UTR5	ENSG00000176014	.	.	7.05499324916919E-5	0.0
18	12308257	G	A	18	12308258	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	2.15535756880665E-4	0.194
18	12308257	G	C	18	12308258	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.71067823441584E-4	0.052
18	12308257	G	T	18	12308258	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	1.19855434655202E-4	0.096
18	12308258	C	A	18	12308259	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	6.02997049802926E-5	0.002
18	12308258	C	G	18	12308259	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	6.02997049802926E-5	0.002
18	12308258	C	T	18	12308259	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	6.02997049802926E-5	0.004
18	12308259	A	C	18	12308260	n	y	UTR5	TUBB6	.	.	splicing	ENSG00000176014	.	.	3.49918104310355E-4	0.008
18	12308259	A	G	18	12308260	n	y	UTR5	TUBB6	.	.	splicing	ENSG00000176014	.	.	3.49918104310355E-4	0.008
18	12308259	A	T	18	12308260	n	y	UTR5	TUBB6	.	.	splicing	ENSG00000176014	.	.	3.49918104310355E-4	0.008
18	12308260	G	A	18	12308261	n	y	UTR5	TUBB6	.	.	splicing	ENSG00000176014	.	.	0.0856125009016513	0.514
18	12308260	G	C	18	12308261	n	y	UTR5	TUBB6	.	.	splicing	ENSG00000176014	.	.	0.0519029403628195	0.508
18	12308260	G	T	18	12308261	n	y	UTR5	TUBB6	.	.	splicing	ENSG00000176014	.	.	0.0856125009016513	0.474
18	12308261	A	C	18	12308262	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	2.65230034870006E-4	0.004
18	12308261	A	G	18	12308262	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	2.65230034870006E-4	0.004
18	12308261	A	T	18	12308262	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	4.33799117438955E-4	0.012
18	12308262	G	A	18	12308263	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	3.19741591768723E-4	0.012
18	12308262	G	C	18	12308263	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	3.19741591768723E-4	0.014
18	12308262	G	T	18	12308263	n	y	UTR5	TUBB6	.	.	UTR5	ENSG00000176014	.	.	3.19741591768723E-4	0.012
18	12308346	A	C	18	12308347	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon1:c.A55C:p.K19Q;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon1:c.A55C:p.K19Q;ENSG00000176014:ENST00000586810:exon1:c.A55C:p.K19Q;ENSG00000176014:ENST00000590103:exon1:c.A55C:p.K19Q;ENSG00000176014:ENST00000586653:exon1:c.A55C:p.K19Q;ENSG00000176014:ENST00000591909:exon1:c.A55C:p.K19Q;ENSG00000176014:ENST00000590967:exon1:c.A55C:p.K19Q;ENSG00000176014:ENST00000590388:exon1:c.A55C:p.K19Q;ENSG00000176014:ENST00000590693:exon2:c.A55C:p.K19Q;ENSG00000176014:ENST00000591208:exon1:c.A55C:p.K19Q;ENSG00000176014:ENST00000592683:exon1:c.A55C:p.K19Q;	9.61896978776167E-4	0.0
18	12308346	A	G	18	12308347	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon1:c.A55G:p.K19E;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon1:c.A55G:p.K19E;ENSG00000176014:ENST00000586810:exon1:c.A55G:p.K19E;ENSG00000176014:ENST00000590103:exon1:c.A55G:p.K19E;ENSG00000176014:ENST00000586653:exon1:c.A55G:p.K19E;ENSG00000176014:ENST00000591909:exon1:c.A55G:p.K19E;ENSG00000176014:ENST00000590967:exon1:c.A55G:p.K19E;ENSG00000176014:ENST00000590388:exon1:c.A55G:p.K19E;ENSG00000176014:ENST00000590693:exon2:c.A55G:p.K19E;ENSG00000176014:ENST00000591208:exon1:c.A55G:p.K19E;ENSG00000176014:ENST00000592683:exon1:c.A55G:p.K19E;	0.0352424859475008	0.182
18	12308346	A	T	18	12308347	y	y	exonic	TUBB6	stopgain SNV	TUBB6:NM_032525:exon1:c.A55T:p.K19X;	exonic	ENSG00000176014	stopgain SNV	ENSG00000176014:ENST00000317702:exon1:c.A55T:p.K19X;ENSG00000176014:ENST00000586810:exon1:c.A55T:p.K19X;ENSG00000176014:ENST00000590103:exon1:c.A55T:p.K19X;ENSG00000176014:ENST00000586653:exon1:c.A55T:p.K19X;ENSG00000176014:ENST00000591909:exon1:c.A55T:p.K19X;ENSG00000176014:ENST00000590967:exon1:c.A55T:p.K19X;ENSG00000176014:ENST00000590388:exon1:c.A55T:p.K19X;ENSG00000176014:ENST00000590693:exon2:c.A55T:p.K19X;ENSG00000176014:ENST00000591208:exon1:c.A55T:p.K19X;ENSG00000176014:ENST00000592683:exon1:c.A55T:p.K19X;	0.818227283845266	0.7
18	12308347	A	C	18	12308348	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon1:c.A56C:p.K19T;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon1:c.A56C:p.K19T;ENSG00000176014:ENST00000586810:exon1:c.A56C:p.K19T;ENSG00000176014:ENST00000590103:exon1:c.A56C:p.K19T;ENSG00000176014:ENST00000586653:exon1:c.A56C:p.K19T;ENSG00000176014:ENST00000591909:exon1:c.A56C:p.K19T;ENSG00000176014:ENST00000590967:exon1:c.A56C:p.K19T;ENSG00000176014:ENST00000590388:exon1:c.A56C:p.K19T;ENSG00000176014:ENST00000590693:exon2:c.A56C:p.K19T;ENSG00000176014:ENST00000591208:exon1:c.A56C:p.K19T;ENSG00000176014:ENST00000592683:exon1:c.A56C:p.K19T;	0.835054124304127	0.816
18	12308347	A	G	18	12308348	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon1:c.A56G:p.K19R;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon1:c.A56G:p.K19R;ENSG00000176014:ENST00000586810:exon1:c.A56G:p.K19R;ENSG00000176014:ENST00000590103:exon1:c.A56G:p.K19R;ENSG00000176014:ENST00000586653:exon1:c.A56G:p.K19R;ENSG00000176014:ENST00000591909:exon1:c.A56G:p.K19R;ENSG00000176014:ENST00000590967:exon1:c.A56G:p.K19R;ENSG00000176014:ENST00000590388:exon1:c.A56G:p.K19R;ENSG00000176014:ENST00000590693:exon2:c.A56G:p.K19R;ENSG00000176014:ENST00000591208:exon1:c.A56G:p.K19R;ENSG00000176014:ENST00000592683:exon1:c.A56G:p.K19R;	0.98960099533066	0.81
18	12308347	A	T	18	12308348	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon1:c.A56T:p.K19M;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon1:c.A56T:p.K19M;ENSG00000176014:ENST00000586810:exon1:c.A56T:p.K19M;ENSG00000176014:ENST00000590103:exon1:c.A56T:p.K19M;ENSG00000176014:ENST00000586653:exon1:c.A56T:p.K19M;ENSG00000176014:ENST00000591909:exon1:c.A56T:p.K19M;ENSG00000176014:ENST00000590967:exon1:c.A56T:p.K19M;ENSG00000176014:ENST00000590388:exon1:c.A56T:p.K19M;ENSG00000176014:ENST00000590693:exon2:c.A56T:p.K19M;ENSG00000176014:ENST00000591208:exon1:c.A56T:p.K19M;ENSG00000176014:ENST00000592683:exon1:c.A56T:p.K19M;	0.995737215220273	0.872
18	12308348	G	A	18	12308349	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon1:c.G57A:p.K19K;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon1:c.G57A:p.K19K;ENSG00000176014:ENST00000586810:exon1:c.G57A:p.K19K;ENSG00000176014:ENST00000590103:exon1:c.G57A:p.K19K;ENSG00000176014:ENST00000586653:exon1:c.G57A:p.K19K;ENSG00000176014:ENST00000591909:exon1:c.G57A:p.K19K;ENSG00000176014:ENST00000590967:exon1:c.G57A:p.K19K;ENSG00000176014:ENST00000590388:exon1:c.G57A:p.K19K;ENSG00000176014:ENST00000590693:exon2:c.G57A:p.K19K;ENSG00000176014:ENST00000591208:exon1:c.G57A:p.K19K;ENSG00000176014:ENST00000592683:exon1:c.G57A:p.K19K;	0.998129316857998	0.91
18	12308348	G	C	18	12308349	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon1:c.G57C:p.K19N;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon1:c.G57C:p.K19N;ENSG00000176014:ENST00000586810:exon1:c.G57C:p.K19N;ENSG00000176014:ENST00000590103:exon1:c.G57C:p.K19N;ENSG00000176014:ENST00000586653:exon1:c.G57C:p.K19N;ENSG00000176014:ENST00000591909:exon1:c.G57C:p.K19N;ENSG00000176014:ENST00000590967:exon1:c.G57C:p.K19N;ENSG00000176014:ENST00000590388:exon1:c.G57C:p.K19N;ENSG00000176014:ENST00000590693:exon2:c.G57C:p.K19N;ENSG00000176014:ENST00000591208:exon1:c.G57C:p.K19N;ENSG00000176014:ENST00000592683:exon1:c.G57C:p.K19N;	0.999678478939669	0.89
18	12308348	G	T	18	12308349	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon1:c.G57T:p.K19N;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon1:c.G57T:p.K19N;ENSG00000176014:ENST00000586810:exon1:c.G57T:p.K19N;ENSG00000176014:ENST00000590103:exon1:c.G57T:p.K19N;ENSG00000176014:ENST00000586653:exon1:c.G57T:p.K19N;ENSG00000176014:ENST00000591909:exon1:c.G57T:p.K19N;ENSG00000176014:ENST00000590967:exon1:c.G57T:p.K19N;ENSG00000176014:ENST00000590388:exon1:c.G57T:p.K19N;ENSG00000176014:ENST00000590693:exon2:c.G57T:p.K19N;ENSG00000176014:ENST00000591208:exon1:c.G57T:p.K19N;ENSG00000176014:ENST00000592683:exon1:c.G57T:p.K19N;	0.999461418187363	0.902
18	12308349	G	A	18	12308350	y	y	splicing	TUBB6(NM_032525:exon1:c.57+1G>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon2:c.57+1G>A;ENST00000317702:exon1:c.57+1G>A;ENST00000590103:exon1:c.57+1G>A;ENST00000591909:exon1:c.57+1G>A;ENST00000586810:exon1:c.57+1G>A;ENST00000586653:exon1:c.57+1G>A;ENST00000590388:exon1:c.57+1G>A;ENST00000592683:exon1:c.57+1G>A;ENST00000590967:exon1:c.57+1G>A;ENST00000591208:exon1:c.57+1G>A)	.	.	0.999946188727699	0.942
18	12308349	G	C	18	12308350	y	y	splicing	TUBB6(NM_032525:exon1:c.57+1G>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon2:c.57+1G>C;ENST00000317702:exon1:c.57+1G>C;ENST00000590103:exon1:c.57+1G>C;ENST00000591909:exon1:c.57+1G>C;ENST00000586810:exon1:c.57+1G>C;ENST00000586653:exon1:c.57+1G>C;ENST00000590388:exon1:c.57+1G>C;ENST00000592683:exon1:c.57+1G>C;ENST00000590967:exon1:c.57+1G>C;ENST00000591208:exon1:c.57+1G>C)	.	.	0.999946188727699	0.938
18	12308349	G	T	18	12308350	y	y	splicing	TUBB6(NM_032525:exon1:c.57+1G>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon2:c.57+1G>T;ENST00000317702:exon1:c.57+1G>T;ENST00000590103:exon1:c.57+1G>T;ENST00000591909:exon1:c.57+1G>T;ENST00000586810:exon1:c.57+1G>T;ENST00000586653:exon1:c.57+1G>T;ENST00000590388:exon1:c.57+1G>T;ENST00000592683:exon1:c.57+1G>T;ENST00000590967:exon1:c.57+1G>T;ENST00000591208:exon1:c.57+1G>T)	.	.	0.999946188727699	0.94
18	12308350	T	A	18	12308351	y	y	splicing	TUBB6(NM_032525:exon1:c.57+2T>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon2:c.57+2T>A;ENST00000317702:exon1:c.57+2T>A;ENST00000590103:exon1:c.57+2T>A;ENST00000591909:exon1:c.57+2T>A;ENST00000586810:exon1:c.57+2T>A;ENST00000586653:exon1:c.57+2T>A;ENST00000590388:exon1:c.57+2T>A;ENST00000592683:exon1:c.57+2T>A;ENST00000590967:exon1:c.57+2T>A;ENST00000591208:exon1:c.57+2T>A)	.	.	0.999774351842832	0.592
18	12308350	T	C	18	12308351	y	y	splicing	TUBB6(NM_032525:exon1:c.57+2T>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon2:c.57+2T>C;ENST00000317702:exon1:c.57+2T>C;ENST00000590103:exon1:c.57+2T>C;ENST00000591909:exon1:c.57+2T>C;ENST00000586810:exon1:c.57+2T>C;ENST00000586653:exon1:c.57+2T>C;ENST00000590388:exon1:c.57+2T>C;ENST00000592683:exon1:c.57+2T>C;ENST00000590967:exon1:c.57+2T>C;ENST00000591208:exon1:c.57+2T>C)	.	.	0.991134731180679	0.588
18	12308350	T	G	18	12308351	y	y	splicing	TUBB6(NM_032525:exon1:c.57+2T>G)	.	.	splicing	ENSG00000176014(ENST00000590693:exon2:c.57+2T>G;ENST00000317702:exon1:c.57+2T>G;ENST00000590103:exon1:c.57+2T>G;ENST00000591909:exon1:c.57+2T>G;ENST00000586810:exon1:c.57+2T>G;ENST00000586653:exon1:c.57+2T>G;ENST00000590388:exon1:c.57+2T>G;ENST00000592683:exon1:c.57+2T>G;ENST00000590967:exon1:c.57+2T>G;ENST00000591208:exon1:c.57+2T>G)	.	.	0.999821703206641	0.594
18	12308351	G	A	18	12308352	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	7.77643405164366E-5	0.114
18	12308351	G	C	18	12308352	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0692892135853948	0.346
18	12308351	G	T	18	12308352	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0313550019126332	0.32
18	12308352	G	A	18	12308353	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.84078200925746E-4	0.092
18	12308352	G	C	18	12308353	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.32606968349095E-4	0.046
18	12308352	G	T	18	12308353	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.20352478923856E-4	0.054
18	12308353	G	A	18	12308354	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.981471169747133	0.752
18	12308353	G	C	18	12308354	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.983661237108833	0.752
18	12308353	G	T	18	12308354	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999708829650397	0.824
18	12308354	C	A	18	12308355	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.95421018719971E-4	0.012
18	12308354	C	G	18	12308355	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.91171669863628E-4	0.042
18	12308354	C	T	18	12308355	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.33256212363744E-5	0.004
18	12308355	C	A	18	12308356	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.88832104664121E-5	0.002
18	12308355	C	G	18	12308356	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.56686017749021E-4	0.0
18	12308355	C	T	18	12308356	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.29993875366839E-4	0.002
18	12308356	T	A	18	12308357	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	7.41635653878773E-5	0.002
18	12308356	T	C	18	12308357	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.01221806309485E-5	0.0
18	12308356	T	G	18	12308357	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	7.12549792797431E-5	0.0
18	12308674	G	A	18	12308675	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00106895252162811	0.05
18	12308674	G	C	18	12308675	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.99750433126979E-4	0.1
18	12308674	G	T	18	12308675	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.96435197868665E-4	0.076
18	12308675	C	A	18	12308676	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.574973242495583	0.224
18	12308675	C	G	18	12308676	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.152123110118483	0.182
18	12308675	C	T	18	12308676	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.99030420283301E-4	0.044
18	12308676	C	A	18	12308677	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.112718904973131	0.216
18	12308676	C	G	18	12308677	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0254329679752891	0.112
18	12308676	C	T	18	12308677	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00154176622821584	0.054
18	12308677	C	A	18	12308678	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.528931324520271	0.314
18	12308677	C	G	18	12308678	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0749656096670103	0.194
18	12308677	C	T	18	12308678	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00544407923788917	0.118
18	12308678	T	A	18	12308679	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999908188890045	0.962
18	12308678	T	C	18	12308679	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00137322720269885	0.056
18	12308678	T	G	18	12308679	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0326550320763504	0.392
18	12308679	G	A	18	12308680	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.26452923709751E-4	0.052
18	12308679	G	C	18	12308680	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.21404539059172E-4	0.058
18	12308679	G	T	18	12308680	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.2195259625799E-4	0.054
18	12308680	C	A	18	12308681	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.406645065143102	0.474
18	12308680	C	G	18	12308681	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.440647196107153	0.486
18	12308680	C	T	18	12308681	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	8.8647799582713E-4	0.154
18	12308681	C	A	18	12308682	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.257715485524875	0.202
18	12308681	C	G	18	12308682	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.169495142402575	0.138
18	12308681	C	T	18	12308682	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.10680842657439E-4	0.04
18	12308682	C	A	18	12308683	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.43397420025032E-4	0.03
18	12308682	C	G	18	12308683	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.84965806289634E-4	0.054
18	12308682	C	T	18	12308683	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	8.62278348425803E-5	0.046
18	12308683	A	C	18	12308684	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.92575730599545E-4	0.11
18	12308683	A	G	18	12308684	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0633137093484023	0.252
18	12308683	A	T	18	12308684	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	8.07883940078352E-5	0.032
18	12308684	A	C	18	12308685	y	y	splicing	TUBB6(NM_032525:exon2:c.58-2A>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.58-2A>C;ENST00000317702:exon2:c.58-2A>C;ENST00000590103:exon2:c.58-2A>C;ENST00000591909:exon2:c.58-2A>C;ENST00000586810:exon2:c.58-2A>C;ENST00000586653:exon2:c.58-2A>C;ENST00000590388:exon2:c.58-2A>C;ENST00000592683:exon2:c.58-2A>C;ENST00000590967:exon2:c.58-2A>C;ENST00000591208:exon2:c.58-2A>C)	.	.	0.999984234163473	0.894
18	12308684	A	G	18	12308685	y	y	splicing	TUBB6(NM_032525:exon2:c.58-2A>G)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.58-2A>G;ENST00000317702:exon2:c.58-2A>G;ENST00000590103:exon2:c.58-2A>G;ENST00000591909:exon2:c.58-2A>G;ENST00000586810:exon2:c.58-2A>G;ENST00000586653:exon2:c.58-2A>G;ENST00000590388:exon2:c.58-2A>G;ENST00000592683:exon2:c.58-2A>G;ENST00000590967:exon2:c.58-2A>G;ENST00000591208:exon2:c.58-2A>G)	.	.	0.999984234163473	0.894
18	12308684	A	T	18	12308685	y	y	splicing	TUBB6(NM_032525:exon2:c.58-2A>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.58-2A>T;ENST00000317702:exon2:c.58-2A>T;ENST00000590103:exon2:c.58-2A>T;ENST00000591909:exon2:c.58-2A>T;ENST00000586810:exon2:c.58-2A>T;ENST00000586653:exon2:c.58-2A>T;ENST00000590388:exon2:c.58-2A>T;ENST00000592683:exon2:c.58-2A>T;ENST00000590967:exon2:c.58-2A>T;ENST00000591208:exon2:c.58-2A>T)	.	.	0.999988906779136	0.9
18	12308685	G	A	18	12308686	y	y	splicing	TUBB6(NM_032525:exon2:c.58-1G>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.58-1G>A;ENST00000317702:exon2:c.58-1G>A;ENST00000590103:exon2:c.58-1G>A;ENST00000591909:exon2:c.58-1G>A;ENST00000586810:exon2:c.58-1G>A;ENST00000586653:exon2:c.58-1G>A;ENST00000590388:exon2:c.58-1G>A;ENST00000592683:exon2:c.58-1G>A;ENST00000590967:exon2:c.58-1G>A;ENST00000591208:exon2:c.58-1G>A)	.	.	0.999979394981131	0.894
18	12308685	G	C	18	12308686	y	y	splicing	TUBB6(NM_032525:exon2:c.58-1G>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.58-1G>C;ENST00000317702:exon2:c.58-1G>C;ENST00000590103:exon2:c.58-1G>C;ENST00000591909:exon2:c.58-1G>C;ENST00000586810:exon2:c.58-1G>C;ENST00000586653:exon2:c.58-1G>C;ENST00000590388:exon2:c.58-1G>C;ENST00000592683:exon2:c.58-1G>C;ENST00000590967:exon2:c.58-1G>C;ENST00000591208:exon2:c.58-1G>C)	.	.	0.999959626360342	0.888
18	12308685	G	T	18	12308686	y	y	splicing	TUBB6(NM_032525:exon2:c.58-1G>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.58-1G>T;ENST00000317702:exon2:c.58-1G>T;ENST00000590103:exon2:c.58-1G>T;ENST00000591909:exon2:c.58-1G>T;ENST00000586810:exon2:c.58-1G>T;ENST00000586653:exon2:c.58-1G>T;ENST00000590388:exon2:c.58-1G>T;ENST00000592683:exon2:c.58-1G>T;ENST00000590967:exon2:c.58-1G>T;ENST00000591208:exon2:c.58-1G>T)	.	.	0.999979394981131	0.894
18	12308686	T	A	18	12308687	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T58A:p.F20I;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T58A:p.F20I;ENSG00000176014:ENST00000586810:exon2:c.T58A:p.F20I;ENSG00000176014:ENST00000590103:exon2:c.T58A:p.F20I;ENSG00000176014:ENST00000586653:exon2:c.T58A:p.F20I;ENSG00000176014:ENST00000591909:exon2:c.T58A:p.F20I;ENSG00000176014:ENST00000590967:exon2:c.T58A:p.F20I;ENSG00000176014:ENST00000590388:exon2:c.T58A:p.F20I;ENSG00000176014:ENST00000590693:exon3:c.T58A:p.F20I;ENSG00000176014:ENST00000591208:exon2:c.T58A:p.F20I;ENSG00000176014:ENST00000592683:exon2:c.T58A:p.F20I;	0.536917377222562	0.708
18	12308686	T	C	18	12308687	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T58C:p.F20L;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T58C:p.F20L;ENSG00000176014:ENST00000586810:exon2:c.T58C:p.F20L;ENSG00000176014:ENST00000590103:exon2:c.T58C:p.F20L;ENSG00000176014:ENST00000586653:exon2:c.T58C:p.F20L;ENSG00000176014:ENST00000591909:exon2:c.T58C:p.F20L;ENSG00000176014:ENST00000590967:exon2:c.T58C:p.F20L;ENSG00000176014:ENST00000590388:exon2:c.T58C:p.F20L;ENSG00000176014:ENST00000590693:exon3:c.T58C:p.F20L;ENSG00000176014:ENST00000591208:exon2:c.T58C:p.F20L;ENSG00000176014:ENST00000592683:exon2:c.T58C:p.F20L;	0.0868315319775432	0.352
18	12308686	T	G	18	12308687	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T58G:p.F20V;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T58G:p.F20V;ENSG00000176014:ENST00000586810:exon2:c.T58G:p.F20V;ENSG00000176014:ENST00000590103:exon2:c.T58G:p.F20V;ENSG00000176014:ENST00000586653:exon2:c.T58G:p.F20V;ENSG00000176014:ENST00000591909:exon2:c.T58G:p.F20V;ENSG00000176014:ENST00000590967:exon2:c.T58G:p.F20V;ENSG00000176014:ENST00000590388:exon2:c.T58G:p.F20V;ENSG00000176014:ENST00000590693:exon3:c.T58G:p.F20V;ENSG00000176014:ENST00000591208:exon2:c.T58G:p.F20V;ENSG00000176014:ENST00000592683:exon2:c.T58G:p.F20V;	0.026426731746912	0.31
18	12308687	T	A	18	12308688	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T59A:p.F20Y;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000586810:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000590103:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000586653:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000591909:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000590967:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000590388:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000590693:exon3:c.T59A:p.F20Y;ENSG00000176014:ENST00000591208:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000592683:exon2:c.T59A:p.F20Y;	0.132817984535928	0.33
18	12308687	T	C	18	12308688	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T59C:p.F20S;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000586810:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000590103:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000586653:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000591909:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000590967:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000590388:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000590693:exon3:c.T59C:p.F20S;ENSG00000176014:ENST00000591208:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000592683:exon2:c.T59C:p.F20S;	0.188180567911099	0.276
18	12308687	T	G	18	12308688	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T59G:p.F20C;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000586810:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000590103:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000586653:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000591909:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000590967:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000590388:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000590693:exon3:c.T59G:p.F20C;ENSG00000176014:ENST00000591208:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000592683:exon2:c.T59G:p.F20C;	0.213957569722509	0.264
18	12308792	C	A	18	12308793	y	y	exonic	TUBB6	stopgain SNV	TUBB6:NM_032525:exon2:c.C164A:p.S55X;	exonic	ENSG00000176014	stopgain SNV	ENSG00000176014:ENST00000317702:exon2:c.C164A:p.S55X;ENSG00000176014:ENST00000586810:exon2:c.C164A:p.S55X;ENSG00000176014:ENST00000590103:exon2:c.C164A:p.S55X;ENSG00000176014:ENST00000586653:exon2:c.C164A:p.S55X;ENSG00000176014:ENST00000591909:exon2:c.C164A:p.S55X;ENSG00000176014:ENST00000590967:exon2:c.C164A:p.S55X;ENSG00000176014:ENST00000590388:exon2:c.C164A:p.S55X;ENSG00000176014:ENST00000590693:exon3:c.C164A:p.S55X;ENSG00000176014:ENST00000591208:exon2:c.C164A:p.S55X;ENSG00000176014:ENST00000592683:exon2:c.C164A:p.S55X;	0.361095399668907	0.626
18	12308792	C	G	18	12308793	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.C164G:p.S55W;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.C164G:p.S55W;ENSG00000176014:ENST00000586810:exon2:c.C164G:p.S55W;ENSG00000176014:ENST00000590103:exon2:c.C164G:p.S55W;ENSG00000176014:ENST00000586653:exon2:c.C164G:p.S55W;ENSG00000176014:ENST00000591909:exon2:c.C164G:p.S55W;ENSG00000176014:ENST00000590967:exon2:c.C164G:p.S55W;ENSG00000176014:ENST00000590388:exon2:c.C164G:p.S55W;ENSG00000176014:ENST00000590693:exon3:c.C164G:p.S55W;ENSG00000176014:ENST00000591208:exon2:c.C164G:p.S55W;ENSG00000176014:ENST00000592683:exon2:c.C164G:p.S55W;	0.442714305962692	0.462
18	12308792	C	T	18	12308793	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.C164T:p.S55L;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.C164T:p.S55L;ENSG00000176014:ENST00000586810:exon2:c.C164T:p.S55L;ENSG00000176014:ENST00000590103:exon2:c.C164T:p.S55L;ENSG00000176014:ENST00000586653:exon2:c.C164T:p.S55L;ENSG00000176014:ENST00000591909:exon2:c.C164T:p.S55L;ENSG00000176014:ENST00000590967:exon2:c.C164T:p.S55L;ENSG00000176014:ENST00000590388:exon2:c.C164T:p.S55L;ENSG00000176014:ENST00000590693:exon3:c.C164T:p.S55L;ENSG00000176014:ENST00000591208:exon2:c.C164T:p.S55L;ENSG00000176014:ENST00000592683:exon2:c.C164T:p.S55L;	0.976916547210369	0.69
18	12308793	G	A	18	12308794	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon2:c.G165A:p.S55S;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.G165A:p.S55S;ENSG00000176014:ENST00000586810:exon2:c.G165A:p.S55S;ENSG00000176014:ENST00000590103:exon2:c.G165A:p.S55S;ENSG00000176014:ENST00000586653:exon2:c.G165A:p.S55S;ENSG00000176014:ENST00000591909:exon2:c.G165A:p.S55S;ENSG00000176014:ENST00000590967:exon2:c.G165A:p.S55S;ENSG00000176014:ENST00000590388:exon2:c.G165A:p.S55S;ENSG00000176014:ENST00000590693:exon3:c.G165A:p.S55S;ENSG00000176014:ENST00000591208:exon2:c.G165A:p.S55S;ENSG00000176014:ENST00000592683:exon2:c.G165A:p.S55S;	4.81270319862279E-4	0.14
18	12308793	G	C	18	12308794	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon2:c.G165C:p.S55S;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.G165C:p.S55S;ENSG00000176014:ENST00000586810:exon2:c.G165C:p.S55S;ENSG00000176014:ENST00000590103:exon2:c.G165C:p.S55S;ENSG00000176014:ENST00000586653:exon2:c.G165C:p.S55S;ENSG00000176014:ENST00000591909:exon2:c.G165C:p.S55S;ENSG00000176014:ENST00000590967:exon2:c.G165C:p.S55S;ENSG00000176014:ENST00000590388:exon2:c.G165C:p.S55S;ENSG00000176014:ENST00000590693:exon3:c.G165C:p.S55S;ENSG00000176014:ENST00000591208:exon2:c.G165C:p.S55S;ENSG00000176014:ENST00000592683:exon2:c.G165C:p.S55S;	3.29367123003593E-4	0.01
18	12308793	G	T	18	12308794	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon2:c.G165T:p.S55S;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.G165T:p.S55S;ENSG00000176014:ENST00000586810:exon2:c.G165T:p.S55S;ENSG00000176014:ENST00000590103:exon2:c.G165T:p.S55S;ENSG00000176014:ENST00000586653:exon2:c.G165T:p.S55S;ENSG00000176014:ENST00000591909:exon2:c.G165T:p.S55S;ENSG00000176014:ENST00000590967:exon2:c.G165T:p.S55S;ENSG00000176014:ENST00000590388:exon2:c.G165T:p.S55S;ENSG00000176014:ENST00000590693:exon3:c.G165T:p.S55S;ENSG00000176014:ENST00000591208:exon2:c.G165T:p.S55S;ENSG00000176014:ENST00000592683:exon2:c.G165T:p.S55S;	0.00327340765588124	0.05
18	12308794	T	A	18	12308795	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T166A:p.S56T;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T166A:p.S56T;ENSG00000176014:ENST00000586810:exon2:c.T166A:p.S56T;ENSG00000176014:ENST00000590103:exon2:c.T166A:p.C56S;ENSG00000176014:ENST00000586653:exon2:c.T166A:p.S56T;ENSG00000176014:ENST00000591909:exon2:c.T166A:p.S56T;ENSG00000176014:ENST00000590967:exon2:c.T166A:p.S56T;ENSG00000176014:ENST00000590388:exon2:c.T166A:p.S56T;ENSG00000176014:ENST00000590693:exon3:c.T166A:p.S56T;ENSG00000176014:ENST00000591208:exon2:c.T166A:p.S56T;ENSG00000176014:ENST00000592683:exon2:c.T166A:p.S56T;	0.00138829286166135	0.012
18	12308794	T	C	18	12308795	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T166C:p.S56P;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T166C:p.S56P;ENSG00000176014:ENST00000586810:exon2:c.T166C:p.S56P;ENSG00000176014:ENST00000590103:exon2:c.T166C:p.C56R;ENSG00000176014:ENST00000586653:exon2:c.T166C:p.S56P;ENSG00000176014:ENST00000591909:exon2:c.T166C:p.S56P;ENSG00000176014:ENST00000590967:exon2:c.T166C:p.S56P;ENSG00000176014:ENST00000590388:exon2:c.T166C:p.S56P;ENSG00000176014:ENST00000590693:exon3:c.T166C:p.S56P;ENSG00000176014:ENST00000591208:exon2:c.T166C:p.S56P;ENSG00000176014:ENST00000592683:exon2:c.T166C:p.S56P;	0.00448895773201546	0.16
18	12308794	T	G	18	12308795	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon2:c.T166G:p.S56A;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon2:c.T166G:p.S56A;ENSG00000176014:ENST00000586810:exon2:c.T166G:p.S56A;ENSG00000176014:ENST00000590103:exon2:c.T166G:p.C56G;ENSG00000176014:ENST00000586653:exon2:c.T166G:p.S56A;ENSG00000176014:ENST00000591909:exon2:c.T166G:p.S56A;ENSG00000176014:ENST00000590967:exon2:c.T166G:p.S56A;ENSG00000176014:ENST00000590388:exon2:c.T166G:p.S56A;ENSG00000176014:ENST00000590693:exon3:c.T166G:p.S56A;ENSG00000176014:ENST00000591208:exon2:c.T166G:p.S56A;ENSG00000176014:ENST00000592683:exon2:c.T166G:p.S56A;	0.00274438208097665	0.128
18	12308795	G	A	18	12308796	y	y	splicing	TUBB6(NM_032525:exon2:c.166+1G>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.166+1G>A;ENST00000317702:exon2:c.166+1G>A;ENST00000590103:exon2:c.166+1G>A;ENST00000591909:exon2:c.166+1G>A;ENST00000586810:exon2:c.166+1G>A;ENST00000586653:exon2:c.166+1G>A;ENST00000590388:exon2:c.166+1G>A;ENST00000592683:exon2:c.166+1G>A;ENST00000590967:exon2:c.166+1G>A;ENST00000591208:exon2:c.166+1G>A)	.	.	0.999993519952936	0.926
18	12308795	G	C	18	12308796	y	y	splicing	TUBB6(NM_032525:exon2:c.166+1G>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.166+1G>C;ENST00000317702:exon2:c.166+1G>C;ENST00000590103:exon2:c.166+1G>C;ENST00000591909:exon2:c.166+1G>C;ENST00000586810:exon2:c.166+1G>C;ENST00000586653:exon2:c.166+1G>C;ENST00000590388:exon2:c.166+1G>C;ENST00000592683:exon2:c.166+1G>C;ENST00000590967:exon2:c.166+1G>C;ENST00000591208:exon2:c.166+1G>C)	.	.	0.999993519952936	0.926
18	12308795	G	T	18	12308796	y	y	splicing	TUBB6(NM_032525:exon2:c.166+1G>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.166+1G>T;ENST00000317702:exon2:c.166+1G>T;ENST00000590103:exon2:c.166+1G>T;ENST00000591909:exon2:c.166+1G>T;ENST00000586810:exon2:c.166+1G>T;ENST00000586653:exon2:c.166+1G>T;ENST00000590388:exon2:c.166+1G>T;ENST00000592683:exon2:c.166+1G>T;ENST00000590967:exon2:c.166+1G>T;ENST00000591208:exon2:c.166+1G>T)	.	.	0.999993519952936	0.926
18	12308796	T	A	18	12308797	y	y	splicing	TUBB6(NM_032525:exon2:c.166+2T>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.166+2T>A;ENST00000317702:exon2:c.166+2T>A;ENST00000590103:exon2:c.166+2T>A;ENST00000591909:exon2:c.166+2T>A;ENST00000586810:exon2:c.166+2T>A;ENST00000586653:exon2:c.166+2T>A;ENST00000590388:exon2:c.166+2T>A;ENST00000592683:exon2:c.166+2T>A;ENST00000590967:exon2:c.166+2T>A;ENST00000591208:exon2:c.166+2T>A)	.	.	0.999993672935256	0.926
18	12308796	T	C	18	12308797	y	y	splicing	TUBB6(NM_032525:exon2:c.166+2T>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.166+2T>C;ENST00000317702:exon2:c.166+2T>C;ENST00000590103:exon2:c.166+2T>C;ENST00000591909:exon2:c.166+2T>C;ENST00000586810:exon2:c.166+2T>C;ENST00000586653:exon2:c.166+2T>C;ENST00000590388:exon2:c.166+2T>C;ENST00000592683:exon2:c.166+2T>C;ENST00000590967:exon2:c.166+2T>C;ENST00000591208:exon2:c.166+2T>C)	.	.	0.999969686557583	0.864
18	12308796	T	G	18	12308797	y	y	splicing	TUBB6(NM_032525:exon2:c.166+2T>G)	.	.	splicing	ENSG00000176014(ENST00000590693:exon3:c.166+2T>G;ENST00000317702:exon2:c.166+2T>G;ENST00000590103:exon2:c.166+2T>G;ENST00000591909:exon2:c.166+2T>G;ENST00000586810:exon2:c.166+2T>G;ENST00000586653:exon2:c.166+2T>G;ENST00000590388:exon2:c.166+2T>G;ENST00000592683:exon2:c.166+2T>G;ENST00000590967:exon2:c.166+2T>G;ENST00000591208:exon2:c.166+2T>G)	.	.	0.999993672935256	0.924
18	12308797	G	A	18	12308798	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	8.67477216234716E-4	0.016
18	12308797	G	C	18	12308798	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.998874534229082	0.766
18	12308797	G	T	18	12308798	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.998739345844985	0.744
18	12308798	A	C	18	12308799	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.997588836395645	0.762
18	12308798	A	G	18	12308799	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999863732611029	0.854
18	12308798	A	T	18	12308799	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999831488774559	0.854
18	12308799	G	A	18	12308800	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999989647077097	1.0
18	12308799	G	C	18	12308800	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999985830786978	0.932
18	12308799	G	T	18	12308800	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999985568944089	0.994
18	12308800	T	A	18	12308801	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.961791876707463	0.656
18	12308800	T	C	18	12308801	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.968240954666779	0.77
18	12308800	T	G	18	12308801	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.813029739821489	0.698
18	12308801	A	C	18	12308802	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.79499906134088E-5	0.028
18	12308801	A	G	18	12308802	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.98760728350089E-4	0.018
18	12308801	A	T	18	12308802	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	8.15807986678896E-4	0.04
18	12308802	G	A	18	12308803	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00153066563537767	0.03
18	12308802	G	C	18	12308803	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00337031637301408	0.012
18	12308802	G	T	18	12308803	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00215938786725864	0.01
18	12310930	T	A	18	12310931	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	8.33447191117553E-4	0.188
18	12310930	T	C	18	12310931	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.32835549173865E-4	0.006
18	12310930	T	G	18	12310931	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00127537254898675	0.11
18	12310931	T	A	18	12310932	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0344877042860805	0.242
18	12310931	T	C	18	12310932	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0072941849684164	0.092
18	12310931	T	G	18	12310932	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0260248228926588	0.284
18	12310932	T	A	18	12310933	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00121147031320652	0.06
18	12310932	T	C	18	12310933	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.92037761208094E-4	0.024
18	12310932	T	G	18	12310933	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.5702727432914E-4	0.074
18	12310933	C	A	18	12310934	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0145008784467679	0.136
18	12310933	C	G	18	12310934	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00978704661851001	0.128
18	12310933	C	T	18	12310934	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00124493762340539	0.046
18	12310934	T	A	18	12310935	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0123388403032936	0.098
18	12310934	T	C	18	12310935	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	7.72951437410795E-4	0.012
18	12310934	T	G	18	12310935	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.00675159403286269	0.21
18	12310935	C	A	18	12310936	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0240375864743839	0.132
18	12310935	C	G	18	12310936	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0140155225821917	0.148
18	12310935	C	T	18	12310936	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	8.66097344671434E-4	0.052
18	12310936	C	A	18	12310937	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0032492982103122	0.066
18	12310936	C	G	18	12310937	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.003988323297314	0.05
18	12310936	C	T	18	12310937	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.23576383773856E-5	0.0
18	12310937	T	A	18	12310938	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0808525928581884	0.262
18	12310937	T	C	18	12310938	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.7839692260076E-4	0.03
18	12310937	T	G	18	12310938	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0758235973205474	0.252
18	12310938	C	A	18	12310939	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.10862785823507E-5	0.002
18	12310938	C	G	18	12310939	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.09192060657908E-4	0.002
18	12310938	C	T	18	12310939	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.5982547428194E-4	0.01
18	12310939	C	A	18	12310940	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.944191277553639	0.606
18	12310939	C	G	18	12310940	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999737918793579	0.95
18	12310939	C	T	18	12310940	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0017203585773643	0.038
18	12310940	A	C	18	12310941	y	y	splicing	TUBB6(NM_032525:exon3:c.167-2A>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.167-2A>C;ENST00000317702:exon3:c.167-2A>C;ENST00000591909:exon3:c.167-2A>C;ENST00000586810:exon3:c.167-2A>C;ENST00000586653:exon3:c.167-2A>C;ENST00000590388:exon3:c.167-2A>C;ENST00000592683:exon3:c.167-2A>C;ENST00000590967:exon3:c.167-2A>C;ENST00000591208:exon3:c.167-2A>C)	.	.	0.999988247793601	0.926
18	12310940	A	G	18	12310941	y	y	splicing	TUBB6(NM_032525:exon3:c.167-2A>G)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.167-2A>G;ENST00000317702:exon3:c.167-2A>G;ENST00000591909:exon3:c.167-2A>G;ENST00000586810:exon3:c.167-2A>G;ENST00000586653:exon3:c.167-2A>G;ENST00000590388:exon3:c.167-2A>G;ENST00000592683:exon3:c.167-2A>G;ENST00000590967:exon3:c.167-2A>G;ENST00000591208:exon3:c.167-2A>G)	.	.	0.999988247793601	0.92
18	12310940	A	T	18	12310941	y	y	splicing	TUBB6(NM_032525:exon3:c.167-2A>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.167-2A>T;ENST00000317702:exon3:c.167-2A>T;ENST00000591909:exon3:c.167-2A>T;ENST00000586810:exon3:c.167-2A>T;ENST00000586653:exon3:c.167-2A>T;ENST00000590388:exon3:c.167-2A>T;ENST00000592683:exon3:c.167-2A>T;ENST00000590967:exon3:c.167-2A>T;ENST00000591208:exon3:c.167-2A>T)	.	.	0.999988247793601	0.926
18	12310941	G	A	18	12310942	y	y	splicing	TUBB6(NM_032525:exon3:c.167-1G>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.167-1G>A;ENST00000317702:exon3:c.167-1G>A;ENST00000591909:exon3:c.167-1G>A;ENST00000586810:exon3:c.167-1G>A;ENST00000586653:exon3:c.167-1G>A;ENST00000590388:exon3:c.167-1G>A;ENST00000592683:exon3:c.167-1G>A;ENST00000590967:exon3:c.167-1G>A;ENST00000591208:exon3:c.167-1G>A)	.	.	0.999985532734767	0.936
18	12310941	G	C	18	12310942	y	y	splicing	TUBB6(NM_032525:exon3:c.167-1G>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.167-1G>C;ENST00000317702:exon3:c.167-1G>C;ENST00000591909:exon3:c.167-1G>C;ENST00000586810:exon3:c.167-1G>C;ENST00000586653:exon3:c.167-1G>C;ENST00000590388:exon3:c.167-1G>C;ENST00000592683:exon3:c.167-1G>C;ENST00000590967:exon3:c.167-1G>C;ENST00000591208:exon3:c.167-1G>C)	.	.	0.999985532734767	0.936
18	12310941	G	T	18	12310942	y	y	splicing	TUBB6(NM_032525:exon3:c.167-1G>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.167-1G>T;ENST00000317702:exon3:c.167-1G>T;ENST00000591909:exon3:c.167-1G>T;ENST00000586810:exon3:c.167-1G>T;ENST00000586653:exon3:c.167-1G>T;ENST00000590388:exon3:c.167-1G>T;ENST00000592683:exon3:c.167-1G>T;ENST00000590967:exon3:c.167-1G>T;ENST00000591208:exon3:c.167-1G>T)	.	.	0.999985532734767	0.936
18	12310942	C	A	18	12310943	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.C167A:p.S56Y;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.C167A:p.S56Y;ENSG00000176014:ENST00000586810:exon3:c.C167A:p.S56Y;ENSG00000176014:ENST00000586653:exon3:c.C167A:p.S56Y;ENSG00000176014:ENST00000591909:exon3:c.C167A:p.S56Y;ENSG00000176014:ENST00000590967:exon3:c.C167A:p.S56Y;ENSG00000176014:ENST00000590388:exon3:c.C167A:p.S56Y;ENSG00000176014:ENST00000590693:exon4:c.C167A:p.S56Y;ENSG00000176014:ENST00000591208:exon3:c.C167A:p.S56Y;ENSG00000176014:ENST00000592683:exon3:c.C167A:p.S56Y;	1.65875034380185E-4	0.002
18	12310942	C	G	18	12310943	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.C167G:p.S56C;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.C167G:p.S56C;ENSG00000176014:ENST00000586810:exon3:c.C167G:p.S56C;ENSG00000176014:ENST00000586653:exon3:c.C167G:p.S56C;ENSG00000176014:ENST00000591909:exon3:c.C167G:p.S56C;ENSG00000176014:ENST00000590967:exon3:c.C167G:p.S56C;ENSG00000176014:ENST00000590388:exon3:c.C167G:p.S56C;ENSG00000176014:ENST00000590693:exon4:c.C167G:p.S56C;ENSG00000176014:ENST00000591208:exon3:c.C167G:p.S56C;ENSG00000176014:ENST00000592683:exon3:c.C167G:p.S56C;	1.68822013333738E-4	0.092
18	12310942	C	T	18	12310943	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.C167T:p.S56F;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.C167T:p.S56F;ENSG00000176014:ENST00000586810:exon3:c.C167T:p.S56F;ENSG00000176014:ENST00000586653:exon3:c.C167T:p.S56F;ENSG00000176014:ENST00000591909:exon3:c.C167T:p.S56F;ENSG00000176014:ENST00000590967:exon3:c.C167T:p.S56F;ENSG00000176014:ENST00000590388:exon3:c.C167T:p.S56F;ENSG00000176014:ENST00000590693:exon4:c.C167T:p.S56F;ENSG00000176014:ENST00000591208:exon3:c.C167T:p.S56F;ENSG00000176014:ENST00000592683:exon3:c.C167T:p.S56F;	0.0011283868011822	0.062
18	12310943	T	A	18	12310944	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon3:c.T168A:p.S56S;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T168A:p.S56S;ENSG00000176014:ENST00000586810:exon3:c.T168A:p.S56S;ENSG00000176014:ENST00000586653:exon3:c.T168A:p.S56S;ENSG00000176014:ENST00000591909:exon3:c.T168A:p.S56S;ENSG00000176014:ENST00000590967:exon3:c.T168A:p.S56S;ENSG00000176014:ENST00000590388:exon3:c.T168A:p.S56S;ENSG00000176014:ENST00000590693:exon4:c.T168A:p.S56S;ENSG00000176014:ENST00000591208:exon3:c.T168A:p.S56S;ENSG00000176014:ENST00000592683:exon3:c.T168A:p.S56S;	5.12415778003337E-4	0.012
18	12310943	T	C	18	12310944	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon3:c.T168C:p.S56S;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T168C:p.S56S;ENSG00000176014:ENST00000586810:exon3:c.T168C:p.S56S;ENSG00000176014:ENST00000586653:exon3:c.T168C:p.S56S;ENSG00000176014:ENST00000591909:exon3:c.T168C:p.S56S;ENSG00000176014:ENST00000590967:exon3:c.T168C:p.S56S;ENSG00000176014:ENST00000590388:exon3:c.T168C:p.S56S;ENSG00000176014:ENST00000590693:exon4:c.T168C:p.S56S;ENSG00000176014:ENST00000591208:exon3:c.T168C:p.S56S;ENSG00000176014:ENST00000592683:exon3:c.T168C:p.S56S;	7.22443306848381E-4	0.02
18	12310943	T	G	18	12310944	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon3:c.T168G:p.S56S;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T168G:p.S56S;ENSG00000176014:ENST00000586810:exon3:c.T168G:p.S56S;ENSG00000176014:ENST00000586653:exon3:c.T168G:p.S56S;ENSG00000176014:ENST00000591909:exon3:c.T168G:p.S56S;ENSG00000176014:ENST00000590967:exon3:c.T168G:p.S56S;ENSG00000176014:ENST00000590388:exon3:c.T168G:p.S56S;ENSG00000176014:ENST00000590693:exon4:c.T168G:p.S56S;ENSG00000176014:ENST00000591208:exon3:c.T168G:p.S56S;ENSG00000176014:ENST00000592683:exon3:c.T168G:p.S56S;	8.91934956730976E-4	0.022
18	12311050	T	A	18	12311051	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.T275A:p.F92Y;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T275A:p.F92Y;ENSG00000176014:ENST00000586810:exon3:c.T275A:p.F92Y;ENSG00000176014:ENST00000586653:exon3:c.T275A:p.F92Y;ENSG00000176014:ENST00000591909:exon3:c.T275A:p.F92Y;ENSG00000176014:ENST00000590967:exon3:c.T275A:p.F92Y;ENSG00000176014:ENST00000590388:exon3:c.T275A:p.F92Y;ENSG00000176014:ENST00000590693:exon4:c.T275A:p.F92Y;ENSG00000176014:ENST00000591463:exon2:c.T59A:p.F20Y;ENSG00000176014:ENST00000591208:exon3:c.T275A:p.F92Y;ENSG00000176014:ENST00000592683:exon3:c.T275A:p.F92Y;	0.00507478399085887	0.068
18	12311050	T	C	18	12311051	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.T275C:p.F92S;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T275C:p.F92S;ENSG00000176014:ENST00000586810:exon3:c.T275C:p.F92S;ENSG00000176014:ENST00000586653:exon3:c.T275C:p.F92S;ENSG00000176014:ENST00000591909:exon3:c.T275C:p.F92S;ENSG00000176014:ENST00000590967:exon3:c.T275C:p.F92S;ENSG00000176014:ENST00000590388:exon3:c.T275C:p.F92S;ENSG00000176014:ENST00000590693:exon4:c.T275C:p.F92S;ENSG00000176014:ENST00000591463:exon2:c.T59C:p.F20S;ENSG00000176014:ENST00000591208:exon3:c.T275C:p.F92S;ENSG00000176014:ENST00000592683:exon3:c.T275C:p.F92S;	0.0860830358744128	0.25
18	12311050	T	G	18	12311051	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.T275G:p.F92C;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T275G:p.F92C;ENSG00000176014:ENST00000586810:exon3:c.T275G:p.F92C;ENSG00000176014:ENST00000586653:exon3:c.T275G:p.F92C;ENSG00000176014:ENST00000591909:exon3:c.T275G:p.F92C;ENSG00000176014:ENST00000590967:exon3:c.T275G:p.F92C;ENSG00000176014:ENST00000590388:exon3:c.T275G:p.F92C;ENSG00000176014:ENST00000590693:exon4:c.T275G:p.F92C;ENSG00000176014:ENST00000591463:exon2:c.T59G:p.F20C;ENSG00000176014:ENST00000591208:exon3:c.T275G:p.F92C;ENSG00000176014:ENST00000592683:exon3:c.T275G:p.F92C;	0.0666195260993144	0.248
18	12311051	T	A	18	12311052	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.T276A:p.F92L;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T276A:p.F92L;ENSG00000176014:ENST00000586810:exon3:c.T276A:p.F92L;ENSG00000176014:ENST00000586653:exon3:c.T276A:p.F92L;ENSG00000176014:ENST00000591909:exon3:c.T276A:p.F92L;ENSG00000176014:ENST00000590967:exon3:c.T276A:p.F92L;ENSG00000176014:ENST00000590388:exon3:c.T276A:p.F92L;ENSG00000176014:ENST00000590693:exon4:c.T276A:p.F92L;ENSG00000176014:ENST00000591463:exon2:c.T60A:p.F20L;ENSG00000176014:ENST00000591208:exon3:c.T276A:p.F92L;ENSG00000176014:ENST00000592683:exon3:c.T276A:p.F92L;	3.7283098894373E-6	0.088
18	12311051	T	C	18	12311052	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon3:c.T276C:p.F92F;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T276C:p.F92F;ENSG00000176014:ENST00000586810:exon3:c.T276C:p.F92F;ENSG00000176014:ENST00000586653:exon3:c.T276C:p.F92F;ENSG00000176014:ENST00000591909:exon3:c.T276C:p.F92F;ENSG00000176014:ENST00000590967:exon3:c.T276C:p.F92F;ENSG00000176014:ENST00000590388:exon3:c.T276C:p.F92F;ENSG00000176014:ENST00000590693:exon4:c.T276C:p.F92F;ENSG00000176014:ENST00000591463:exon2:c.T60C:p.F20F;ENSG00000176014:ENST00000591208:exon3:c.T276C:p.F92F;ENSG00000176014:ENST00000592683:exon3:c.T276C:p.F92F;	3.88113934969634E-5	0.0
18	12311051	T	G	18	12311052	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.T276G:p.F92L;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.T276G:p.F92L;ENSG00000176014:ENST00000586810:exon3:c.T276G:p.F92L;ENSG00000176014:ENST00000586653:exon3:c.T276G:p.F92L;ENSG00000176014:ENST00000591909:exon3:c.T276G:p.F92L;ENSG00000176014:ENST00000590967:exon3:c.T276G:p.F92L;ENSG00000176014:ENST00000590388:exon3:c.T276G:p.F92L;ENSG00000176014:ENST00000590693:exon4:c.T276G:p.F92L;ENSG00000176014:ENST00000591463:exon2:c.T60G:p.F20L;ENSG00000176014:ENST00000591208:exon3:c.T276G:p.F92L;ENSG00000176014:ENST00000592683:exon3:c.T276G:p.F92L;	5.25851593315922E-4	0.094
18	12311052	G	A	18	12311053	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.G277A:p.G93S;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.G277A:p.G93S;ENSG00000176014:ENST00000586810:exon3:c.G277A:p.G93S;ENSG00000176014:ENST00000586653:exon3:c.G277A:p.E93K;ENSG00000176014:ENST00000591909:exon3:c.G277A:p.A93T;ENSG00000176014:ENST00000590967:exon3:c.G277A:p.V93I;ENSG00000176014:ENST00000590388:exon3:c.G277A:p.A93T;ENSG00000176014:ENST00000590693:exon4:c.G277A:p.G93S;ENSG00000176014:ENST00000591463:exon2:c.G61A:p.G21S;ENSG00000176014:ENST00000591208:exon3:c.G277A:p.G93S;ENSG00000176014:ENST00000592683:exon3:c.G277A:p.A93T;	0.999990103317502	1.0
18	12311052	G	C	18	12311053	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.G277C:p.G93R;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon3:c.G277C:p.G93R;ENSG00000176014:ENST00000586810:exon3:c.G277C:p.G93R;ENSG00000176014:ENST00000586653:exon3:c.G277C:p.E93Q;ENSG00000176014:ENST00000591909:exon3:c.G277C:p.A93P;ENSG00000176014:ENST00000590967:exon3:c.G277C:p.V93L;ENSG00000176014:ENST00000590388:exon3:c.G277C:p.A93P;ENSG00000176014:ENST00000590693:exon4:c.G277C:p.G93R;ENSG00000176014:ENST00000591463:exon2:c.G61C:p.G21R;ENSG00000176014:ENST00000591208:exon3:c.G277C:p.G93R;ENSG00000176014:ENST00000592683:exon3:c.G277C:p.A93P;	0.999976553651309	0.996
18	12311052	G	T	18	12311053	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon3:c.G277T:p.G93C;	exonic	ENSG00000176014	stopgain SNV	ENSG00000176014:ENST00000586653:exon3:c.G277T:p.E93X;	0.999983776958795	1.0
18	12311053	G	A	18	12311054	y	y	splicing	TUBB6(NM_032525:exon3:c.277+1G>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.277+1G>A;ENST00000317702:exon3:c.277+1G>A;ENST00000591909:exon3:c.277+1G>A;ENST00000586810:exon3:c.277+1G>A;ENST00000586653:exon3:c.277+1G>A;ENST00000590388:exon3:c.277+1G>A;ENST00000592683:exon3:c.277+1G>A;ENST00000590967:exon3:c.277+1G>A;ENST00000591208:exon3:c.277+1G>A;ENST00000591463:exon2:c.61+1G>A;ENST00000586691:exon1:c.87+1G>A)	.	.	0.999986675681007	0.944
18	12311053	G	C	18	12311054	y	y	splicing	TUBB6(NM_032525:exon3:c.277+1G>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.277+1G>C;ENST00000317702:exon3:c.277+1G>C;ENST00000591909:exon3:c.277+1G>C;ENST00000586810:exon3:c.277+1G>C;ENST00000586653:exon3:c.277+1G>C;ENST00000590388:exon3:c.277+1G>C;ENST00000592683:exon3:c.277+1G>C;ENST00000590967:exon3:c.277+1G>C;ENST00000591208:exon3:c.277+1G>C;ENST00000591463:exon2:c.61+1G>C;ENST00000586691:exon1:c.87+1G>C)	.	.	0.999986675681007	0.944
18	12311053	G	T	18	12311054	y	y	splicing	TUBB6(NM_032525:exon3:c.277+1G>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.277+1G>T;ENST00000317702:exon3:c.277+1G>T;ENST00000591909:exon3:c.277+1G>T;ENST00000586810:exon3:c.277+1G>T;ENST00000586653:exon3:c.277+1G>T;ENST00000590388:exon3:c.277+1G>T;ENST00000592683:exon3:c.277+1G>T;ENST00000590967:exon3:c.277+1G>T;ENST00000591208:exon3:c.277+1G>T;ENST00000591463:exon2:c.61+1G>T;ENST00000586691:exon1:c.87+1G>T)	.	.	0.999986675681007	0.944
18	12311054	T	A	18	12311055	y	y	splicing	TUBB6(NM_032525:exon3:c.277+2T>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.277+2T>A;ENST00000317702:exon3:c.277+2T>A;ENST00000591909:exon3:c.277+2T>A;ENST00000586810:exon3:c.277+2T>A;ENST00000586653:exon3:c.277+2T>A;ENST00000590388:exon3:c.277+2T>A;ENST00000592683:exon3:c.277+2T>A;ENST00000590967:exon3:c.277+2T>A;ENST00000591208:exon3:c.277+2T>A;ENST00000591463:exon2:c.61+2T>A;ENST00000586691:exon1:c.87+2T>A)	.	.	0.999988247793601	0.938
18	12311054	T	C	18	12311055	y	y	splicing	TUBB6(NM_032525:exon3:c.277+2T>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.277+2T>C;ENST00000317702:exon3:c.277+2T>C;ENST00000591909:exon3:c.277+2T>C;ENST00000586810:exon3:c.277+2T>C;ENST00000586653:exon3:c.277+2T>C;ENST00000590388:exon3:c.277+2T>C;ENST00000592683:exon3:c.277+2T>C;ENST00000590967:exon3:c.277+2T>C;ENST00000591208:exon3:c.277+2T>C;ENST00000591463:exon2:c.61+2T>C;ENST00000586691:exon1:c.87+2T>C)	.	.	0.986973409415639	0.608
18	12311054	T	G	18	12311055	y	y	splicing	TUBB6(NM_032525:exon3:c.277+2T>G)	.	.	splicing	ENSG00000176014(ENST00000590693:exon4:c.277+2T>G;ENST00000317702:exon3:c.277+2T>G;ENST00000591909:exon3:c.277+2T>G;ENST00000586810:exon3:c.277+2T>G;ENST00000586653:exon3:c.277+2T>G;ENST00000590388:exon3:c.277+2T>G;ENST00000592683:exon3:c.277+2T>G;ENST00000590967:exon3:c.277+2T>G;ENST00000591208:exon3:c.277+2T>G;ENST00000591463:exon2:c.61+2T>G;ENST00000586691:exon1:c.87+2T>G)	.	.	0.999988247793601	0.936
18	12311055	A	C	18	12311056	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999354439799966	0.862
18	12311055	A	G	18	12311056	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.425632473992009	0.52
18	12311055	A	T	18	12311056	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.995928413336828	0.854
18	12311056	G	A	18	12311057	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.36958827578012E-4	0.036
18	12311056	G	C	18	12311057	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.05833999305321E-5	0.02
18	12311056	G	T	18	12311057	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.05833999305321E-5	0.002
18	12311057	G	A	18	12311058	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999971312246628	0.988
18	12311057	G	C	18	12311058	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.999990964828062	0.996
18	12311057	G	T	18	12311058	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.99997289121893	0.99
18	12311058	T	A	18	12311059	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.209394552223666	0.3
18	12311058	T	C	18	12311059	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.0192660893495917	0.218
18	12311058	T	G	18	12311059	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	0.169343042138288	0.428
18	12311059	T	A	18	12311060	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.71502005771779E-5	0.006
18	12311059	T	C	18	12311060	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.71502005771779E-5	0.0
18	12311059	T	G	18	12311060	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.35390096599084E-4	0.0
18	12311060	C	A	18	12311061	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.74408498528923E-4	0.022
18	12311060	C	G	18	12311061	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.51092346210065E-4	0.044
18	12311060	C	T	18	12311061	y	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.69976521823383E-4	0.064
18	12320523	A	C	18	12320524	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.2886448328189E-5	0.0
18	12320523	A	G	18	12320524	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.2886448328189E-5	0.0
18	12320523	A	T	18	12320524	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.2886448328189E-5	0.0
18	12320524	T	A	18	12320525	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.43346443961288E-5	0.004
18	12320524	T	C	18	12320525	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.25524929795369E-5	0.004
18	12320524	T	G	18	12320525	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.25524929795369E-5	0.004
18	12320525	G	A	18	12320526	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.00675832680685E-4	0.004
18	12320525	G	C	18	12320526	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.1548255067557E-5	0.0
18	12320525	G	T	18	12320526	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.32510510707312E-5	0.0
18	12320526	T	A	18	12320527	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.82827935381688E-5	0.004
18	12320526	T	C	18	12320527	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.78205327723092E-5	0.022
18	12320526	T	G	18	12320527	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.78205327723092E-5	0.038
18	12320527	C	A	18	12320528	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.72760553213487E-5	0.004
18	12320527	C	G	18	12320528	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.72760553213487E-5	0.0
18	12320527	C	T	18	12320528	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	9.72760553213487E-5	0.078
18	12320528	C	A	18	12320529	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.74891647094722E-5	0.006
18	12320528	C	G	18	12320529	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.41256482875619E-5	0.006
18	12320528	C	T	18	12320529	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.74891647094722E-5	0.006
18	12320529	T	A	18	12320530	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.16770149425671E-4	0.002
18	12320529	T	C	18	12320530	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.42474496267833E-5	0.004
18	12320529	T	G	18	12320530	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.16770149425671E-4	0.004
18	12320530	T	A	18	12320531	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.3994564522384E-5	0.012
18	12320530	T	C	18	12320531	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.3994564522384E-5	0.012
18	12320530	T	G	18	12320531	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.3994564522384E-5	0.012
18	12320531	T	A	18	12320532	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	8.49702646665041E-5	0.008
18	12320531	T	C	18	12320532	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.08802802279601E-5	0.0
18	12320531	T	G	18	12320532	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.08802802279601E-5	0.0
18	12320532	C	A	18	12320533	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.55183766894313E-5	0.034
18	12320532	C	G	18	12320533	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.29172098833992E-5	0.034
18	12320532	C	T	18	12320533	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.55183766894313E-5	0.04
18	12320533	A	C	18	12320534	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.278-2A>C)	.	.	6.89925739660516E-5	0.006
18	12320533	A	G	18	12320534	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.278-2A>G)	.	.	6.89925739660516E-5	0.006
18	12320533	A	T	18	12320534	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.278-2A>T)	.	.	6.89925739660516E-5	0.008
18	12320534	G	A	18	12320535	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.278-1G>A)	.	.	3.77382407657072E-5	0.006
18	12320534	G	C	18	12320535	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.278-1G>C)	.	.	3.49745092444763E-5	0.0
18	12320534	G	T	18	12320535	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.278-1G>T)	.	.	3.77382407657072E-5	0.0
18	12320535	G	A	18	12320536	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000586810:exon4:c.G278A:p.G93D;	1.42005417025298E-5	0.0
18	12320535	G	C	18	12320536	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000586810:exon4:c.G278C:p.G93A;	1.42005417025298E-5	0.0
18	12320535	G	T	18	12320536	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000586810:exon4:c.G278T:p.G93V;	1.42005417025298E-5	0.0
18	12320536	T	A	18	12320537	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000586810:exon4:c.T279A:p.G93G;	3.80109675654916E-5	0.0
18	12320536	T	C	18	12320537	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000586810:exon4:c.T279C:p.G93G;	5.08291490468438E-5	0.01
18	12320536	T	G	18	12320537	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000586810:exon4:c.T279G:p.G93G;	5.08291490468438E-5	0.014
18	12320741	T	A	18	12320742	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	8.49702646665041E-5	0.006
18	12320741	T	C	18	12320742	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.08802802279601E-5	0.002
18	12320741	T	G	18	12320742	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.08802802279601E-5	0.002
18	12320742	A	C	18	12320743	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.54291542054858E-4	0.004
18	12320742	A	G	18	12320743	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.54291542054858E-4	0.006
18	12320742	A	T	18	12320743	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.54291542054858E-4	0.004
18	12320743	G	A	18	12320744	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.14301101535901E-5	0.002
18	12320743	G	C	18	12320744	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	2.68219155180855E-5	0.002
18	12320743	G	T	18	12320744	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.14301101535901E-5	0.004
18	12320744	G	A	18	12320745	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.486+1G>A;ENST00000590388:exon4:c.393+1G>A)	.	.	3.07620641825897E-5	0.0
18	12320744	G	C	18	12320745	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.486+1G>C;ENST00000590388:exon4:c.393+1G>C)	.	.	3.07620641825897E-5	0.0
18	12320744	G	T	18	12320745	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.486+1G>T;ENST00000590388:exon4:c.393+1G>T)	.	.	3.07620641825897E-5	0.0
18	12320745	T	A	18	12320746	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.486+2T>A;ENST00000590388:exon4:c.393+2T>A)	.	.	3.31929338280547E-5	0.004
18	12320745	T	C	18	12320746	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.486+2T>C;ENST00000590388:exon4:c.393+2T>C)	.	.	3.07620641825897E-5	0.0
18	12320745	T	G	18	12320746	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon4:c.486+2T>G;ENST00000590388:exon4:c.393+2T>G)	.	.	3.07620641825897E-5	0.0
18	12320746	A	C	18	12320747	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.60081151915995E-4	0.004
18	12320746	A	G	18	12320747	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.60081151915995E-4	0.004
18	12320746	A	T	18	12320747	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.60081151915995E-4	0.01
18	12320747	T	A	18	12320748	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.54291542054858E-4	0.004
18	12320747	T	C	18	12320748	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.54291542054858E-4	0.01
18	12320747	T	G	18	12320748	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.54291542054858E-4	0.01
18	12320748	T	A	18	12320749	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.29276528558917E-5	0.002
18	12320748	T	C	18	12320749	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.40316979844049E-5	0.016
18	12320748	T	G	18	12320749	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.40316979844049E-5	0.022
18	12320749	T	A	18	12320750	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.78205327723092E-5	0.004
18	12320749	T	C	18	12320750	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.31929338280547E-5	0.004
18	12320749	T	G	18	12320750	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.31929338280547E-5	0.004
18	12320750	G	A	18	12320751	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.45277156108894E-5	0.0
18	12320750	G	C	18	12320751	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.45277156108894E-5	0.0
18	12320750	G	T	18	12320751	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.45277156108894E-5	0.0
18	12320751	G	A	18	12320752	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.78864525412067E-5	0.004
18	12320751	G	C	18	12320752	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.45277156108894E-5	0.0
18	12320751	G	T	18	12320752	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.45277156108894E-5	0.0
18	12324796	A	C	18	12324797	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.53717286515496E-4	0.004
18	12324796	A	G	18	12324797	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.53717286515496E-4	0.004
18	12324796	A	T	18	12324797	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.79361714119416E-4	0.002
18	12324797	C	A	18	12324798	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.52159304237333E-5	0.024
18	12324797	C	G	18	12324798	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.52159304237333E-5	0.024
18	12324797	C	T	18	12324798	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	6.52159304237333E-5	0.032
18	12324798	C	A	18	12324799	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.5872545787408E-5	0.008
18	12324798	C	G	18	12324799	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.9036268812303E-5	0.004
18	12324798	C	T	18	12324799	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.5872545787408E-5	0.006
18	12324799	A	C	18	12324800	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.85455578184536E-5	0.006
18	12324799	A	G	18	12324800	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	5.85455578184536E-5	0.006
18	12324799	A	T	18	12324800	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.06407420733308E-4	0.004
18	12324800	T	A	18	12324801	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.1020973109669E-5	0.0
18	12324800	T	C	18	12324801	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.256915070725E-5	0.0
18	12324800	T	G	18	12324801	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.256915070725E-5	0.0
18	12324801	G	A	18	12324802	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	7.34280463342776E-4	0.006
18	12324801	G	C	18	12324802	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	7.34280463342776E-4	0.024
18	12324801	G	T	18	12324802	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	7.34280463342776E-4	0.004
18	12324802	T	A	18	12324803	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	2.256915070725E-5	0.0
18	12324802	T	C	18	12324803	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.0180149904064E-5	0.04
18	12324802	T	G	18	12324803	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	3.0180149904064E-5	0.096
18	12324803	G	A	18	12324804	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.59011002566824E-5	0.018
18	12324803	G	C	18	12324804	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.59011002566824E-5	0.014
18	12324803	G	T	18	12324804	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.59011002566824E-5	0.016
18	12324804	C	A	18	12324805	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.04243866858565E-5	0.0
18	12324804	C	G	18	12324805	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.04243866858565E-5	0.0
18	12324804	C	T	18	12324805	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	4.04243866858565E-5	0.0
18	12324805	A	C	18	12324806	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.67738868662274E-5	0.0
18	12324805	A	G	18	12324806	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.67738868662274E-5	0.0
18	12324805	A	T	18	12324806	n	y	intronic	TUBB6	.	.	intronic	ENSG00000176014	.	.	1.67738868662274E-5	0.0
18	12324806	A	C	18	12324807	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon5:c.487-2A>C;ENST00000586653:exon4:c.278-2A>C)	.	.	4.87872098031522E-5	0.0
18	12324806	A	G	18	12324807	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon5:c.487-2A>G;ENST00000586653:exon4:c.278-2A>G)	.	.	4.87872098031522E-5	0.0
18	12324806	A	T	18	12324807	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon5:c.487-2A>T;ENST00000586653:exon4:c.278-2A>T)	.	.	5.26423815498506E-5	0.0
18	12324807	G	A	18	12324808	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon5:c.487-1G>A;ENST00000586653:exon4:c.278-1G>A)	.	.	5.5872545787408E-5	0.008
18	12324807	G	C	18	12324808	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon5:c.487-1G>C;ENST00000586653:exon4:c.278-1G>C)	.	.	5.5872545787408E-5	0.006
18	12324807	G	T	18	12324808	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000586810:exon5:c.487-1G>T;ENST00000586653:exon4:c.278-1G>T)	.	.	5.5872545787408E-5	0.006
18	12324808	A	C	18	12324809	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000586653:exon4:c.A278C:p.E93A;	3.23892897236096E-4	0.006
18	12324808	A	G	18	12324809	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000586653:exon4:c.A278G:p.E93G;	3.23892897236096E-4	0.006
18	12324808	A	T	18	12324809	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000586653:exon4:c.A278T:p.E93V;	3.23892897236096E-4	0.006
18	12324809	A	C	18	12324810	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000586653:exon4:c.A279C:p.E93D;	3.23892897236096E-4	0.006
18	12324809	A	G	18	12324810	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000586653:exon4:c.A279G:p.E93E;	3.23892897236096E-4	0.006
18	12324809	A	T	18	12324810	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000586653:exon4:c.A279T:p.E93D;	3.23892897236096E-4	0.006
18	12324954	T	A	18	12324955	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	5.15941453541388E-5	0.002
18	12324954	T	C	18	12324955	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.89925739660516E-5	0.09
18	12324954	T	G	18	12324955	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.89925739660516E-5	0.006
18	12324955	T	A	18	12324956	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.72890108684876E-4	0.008
18	12324955	T	C	18	12324956	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.05605949885822E-4	0.006
18	12324955	T	G	18	12324956	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.05605949885822E-4	0.006
18	12324956	T	A	18	12324957	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	8.49702646665041E-5	0.1
18	12324956	T	C	18	12324957	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	8.49702646665041E-5	0.004
18	12324956	T	G	18	12324957	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	8.49702646665041E-5	0.004
18	12324957	G	A	18	12324958	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.21833502150991E-5	0.0
18	12324957	G	C	18	12324958	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.21833502150991E-5	0.0
18	12324957	G	T	18	12324958	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.21833502150991E-5	0.0
18	12324958	G	A	18	12324959	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.21833502150991E-5	0.0
18	12324958	G	C	18	12324959	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	5.64084767037613E-5	0.01
18	12324958	G	T	18	12324959	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.21833502150991E-5	0.008
18	12324959	C	A	18	12324960	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.89925739660516E-5	0.004
18	12324959	C	G	18	12324960	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	3.31929338280547E-5	0.004
18	12324959	C	T	18	12324960	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.89925739660516E-5	0.004
18	12324960	T	A	18	12324961	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.89925739660516E-5	0.004
18	12324960	T	C	18	12324961	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	3.31929338280547E-5	0.002
18	12324960	T	G	18	12324961	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	3.31929338280547E-5	0.002
18	12324961	A	C	18	12324962	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.95735775412773E-5	0.002
18	12324961	A	G	18	12324962	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.95735775412773E-5	0.002
18	12324961	A	T	18	12324962	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.95735775412773E-5	0.002
18	12324962	A	C	18	12324963	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	7.42544334184685E-5	0.006
18	12324962	A	G	18	12324963	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	7.42544334184685E-5	0.006
18	12324962	A	T	18	12324963	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	5.5529151830241E-5	0.008
18	12324963	C	A	18	12324964	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.22788067510469E-5	0.0
18	12324963	C	G	18	12324964	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.22788067510469E-5	0.0
18	12324963	C	T	18	12324964	n	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	7.68433810549259E-5	0.0
18	12324964	A	C	18	12324965	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000592683:exon4:c.278-2A>C)	.	.	2.63360899965148E-5	0.0
18	12324964	A	G	18	12324965	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000592683:exon4:c.278-2A>G)	.	.	2.63360899965148E-5	0.0
18	12324964	A	T	18	12324965	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000592683:exon4:c.278-2A>T)	.	.	4.78674951653264E-5	0.0
18	12324965	G	A	18	12324966	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000592683:exon4:c.278-1G>A)	.	.	3.07620641825897E-5	0.0
18	12324965	G	C	18	12324966	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000592683:exon4:c.278-1G>C)	.	.	3.07620641825897E-5	0.0
18	12324965	G	T	18	12324966	n	y	intronic	TUBB6	.	.	splicing	ENSG00000176014(ENST00000592683:exon4:c.278-1G>T)	.	.	3.07620641825897E-5	0.0
18	12324966	C	A	18	12324967	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000592683:exon4:c.C278A:p.A93E;	2.68219155180855E-5	0.0
18	12324966	C	G	18	12324967	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000592683:exon4:c.C278G:p.A93G;	2.68219155180855E-5	0.0
18	12324966	C	T	18	12324967	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000592683:exon4:c.C278T:p.A93V;	2.68219155180855E-5	0.0
18	12324967	A	C	18	12324968	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000592683:exon4:c.A279C:p.A93A;	4.47039489069415E-5	0.004
18	12324967	A	G	18	12324968	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000592683:exon4:c.A279G:p.A93A;	4.47039489069415E-5	0.004
18	12324967	A	T	18	12324968	n	y	intronic	TUBB6	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000592683:exon4:c.A279T:p.A93A;	6.552751562108E-5	0.004
18	12325054	T	A	18	12325055	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.67087552761612E-4	0.05
18	12325054	T	C	18	12325055	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.58380777849895E-4	0.0
18	12325054	T	G	18	12325055	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.39940938677683E-4	0.056
18	12325055	C	A	18	12325056	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.00135505150280007	0.066
18	12325055	C	G	18	12325056	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.64475542715961E-4	0.02
18	12325055	C	T	18	12325056	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.98332607763116E-5	0.0
18	12325056	T	A	18	12325057	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.0117562201424159	0.18
18	12325056	T	C	18	12325057	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.00532372733969012	0.222
18	12325056	T	G	18	12325057	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.0198042778276101	0.186
18	12325057	T	A	18	12325058	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.87791400891844E-4	0.042
18	12325057	T	C	18	12325058	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.80379242672906E-5	0.0
18	12325057	T	G	18	12325058	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	3.66501911021812E-4	0.04
18	12325058	T	A	18	12325059	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.999909128869673	0.976
18	12325058	T	C	18	12325059	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	8.99593977189124E-4	0.008
18	12325058	T	G	18	12325059	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.04770295196702	0.204
18	12325059	G	A	18	12325060	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.69061520928634E-4	0.006
18	12325059	G	C	18	12325060	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	6.64456493133895E-5	0.002
18	12325059	G	T	18	12325060	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	5.33256212363744E-5	0.0
18	12325060	T	A	18	12325061	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.00360818643284433	0.138
18	12325060	T	C	18	12325061	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.72371823666103E-4	0.018
18	12325060	T	G	18	12325061	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.0108376268362822	0.168
18	12325061	T	A	18	12325062	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.992818349544509	0.932
18	12325061	T	C	18	12325062	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.58806969615166E-4	0.002
18	12325061	T	G	18	12325062	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.0277551545717295	0.212
18	12325062	G	A	18	12325063	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	1.46806026074213E-4	0.0
18	12325062	G	C	18	12325063	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	3.65477350212512E-5	0.0
18	12325062	G	T	18	12325063	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	4.63864123619929E-5	0.0
18	12325063	C	A	18	12325064	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.980204900862235	0.718
18	12325063	C	G	18	12325064	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.999601817820978	0.94
18	12325063	C	T	18	12325064	y	y	intronic	TUBB6	.	.	UTR3	ENSG00000176014	.	.	0.0677943561315678	0.32
18	12325064	A	C	18	12325065	y	y	splicing	TUBB6(NM_032525:exon4:c.278-2A>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon5:c.278-2A>C;ENST00000317702:exon4:c.278-2A>C;ENST00000590103:exon3:c.167-2A>C;ENST00000590388:exon5:c.394-2A>C;ENST00000591208:exon4:c.278-2A>C;ENST00000591463:exon3:c.62-2A>C)	.	.	0.999992446697775	0.924
18	12325064	A	G	18	12325065	y	y	splicing	TUBB6(NM_032525:exon4:c.278-2A>G)	.	.	splicing	ENSG00000176014(ENST00000590693:exon5:c.278-2A>G;ENST00000317702:exon4:c.278-2A>G;ENST00000590103:exon3:c.167-2A>G;ENST00000590388:exon5:c.394-2A>G;ENST00000591208:exon4:c.278-2A>G;ENST00000591463:exon3:c.62-2A>G)	.	.	0.999992446697775	0.914
18	12325064	A	T	18	12325065	y	y	splicing	TUBB6(NM_032525:exon4:c.278-2A>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon5:c.278-2A>T;ENST00000317702:exon4:c.278-2A>T;ENST00000590103:exon3:c.167-2A>T;ENST00000590388:exon5:c.394-2A>T;ENST00000591208:exon4:c.278-2A>T;ENST00000591463:exon3:c.62-2A>T)	.	.	0.999992446697775	0.926
18	12325065	G	A	18	12325066	y	y	splicing	TUBB6(NM_032525:exon4:c.278-1G>A)	.	.	splicing	ENSG00000176014(ENST00000590693:exon5:c.278-1G>A;ENST00000317702:exon4:c.278-1G>A;ENST00000590103:exon3:c.167-1G>A;ENST00000590388:exon5:c.394-1G>A;ENST00000591208:exon4:c.278-1G>A;ENST00000591463:exon3:c.62-1G>A)	.	.	0.999988247793601	0.924
18	12325065	G	C	18	12325066	y	y	splicing	TUBB6(NM_032525:exon4:c.278-1G>C)	.	.	splicing	ENSG00000176014(ENST00000590693:exon5:c.278-1G>C;ENST00000317702:exon4:c.278-1G>C;ENST00000590103:exon3:c.167-1G>C;ENST00000590388:exon5:c.394-1G>C;ENST00000591208:exon4:c.278-1G>C;ENST00000591463:exon3:c.62-1G>C)	.	.	0.999988247793601	0.924
18	12325065	G	T	18	12325066	y	y	splicing	TUBB6(NM_032525:exon4:c.278-1G>T)	.	.	splicing	ENSG00000176014(ENST00000590693:exon5:c.278-1G>T;ENST00000317702:exon4:c.278-1G>T;ENST00000590103:exon3:c.167-1G>T;ENST00000590388:exon5:c.394-1G>T;ENST00000591208:exon4:c.278-1G>T;ENST00000591463:exon3:c.62-1G>T)	.	.	0.999988247793601	0.924
18	12325066	G	A	18	12325067	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon4:c.G278A:p.G93D;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon4:c.G278A:p.G93D;ENSG00000176014:ENST00000590103:exon3:c.G167A:p.C56Y;ENSG00000176014:ENST00000590693:exon5:c.G278A:p.G93D;ENSG00000176014:ENST00000591463:exon3:c.G62A:p.G21D;ENSG00000176014:ENST00000591208:exon4:c.G278A:p.G93D;	0.998396232438352	0.8
18	12325066	G	C	18	12325067	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon4:c.G278C:p.G93A;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon4:c.G278C:p.G93A;ENSG00000176014:ENST00000590103:exon3:c.G167C:p.C56S;ENSG00000176014:ENST00000590693:exon5:c.G278C:p.G93A;ENSG00000176014:ENST00000591463:exon3:c.G62C:p.G21A;ENSG00000176014:ENST00000591208:exon4:c.G278C:p.G93A;	0.996863394874095	0.898
18	12325066	G	T	18	12325067	y	y	exonic	TUBB6	nonsynonymous SNV	TUBB6:NM_032525:exon4:c.G278T:p.G93V;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000317702:exon4:c.G278T:p.G93V;ENSG00000176014:ENST00000590103:exon3:c.G167T:p.C56F;ENSG00000176014:ENST00000590693:exon5:c.G278T:p.G93V;ENSG00000176014:ENST00000591463:exon3:c.G62T:p.G21V;ENSG00000176014:ENST00000591208:exon4:c.G278T:p.G93V;	0.999626012540804	0.952
18	12325067	C	A	18	12325068	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon4:c.C279A:p.G93G;	exonic	ENSG00000176014	stopgain SNV	ENSG00000176014:ENST00000590103:exon3:c.C168A:p.C56X;	4.94115000611151E-5	0.0
18	12325067	C	G	18	12325068	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon4:c.C279G:p.G93G;	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000590103:exon3:c.C168G:p.C56W;	1.31465743726976E-4	0.012
18	12325067	C	T	18	12325068	y	y	exonic	TUBB6	synonymous SNV	TUBB6:NM_032525:exon4:c.C279T:p.G93G;	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000317702:exon4:c.C279T:p.G93G;ENSG00000176014:ENST00000590103:exon3:c.C168T:p.C56C;ENSG00000176014:ENST00000590693:exon5:c.C279T:p.G93G;ENSG00000176014:ENST00000591463:exon3:c.C63T:p.G21G;ENSG00000176014:ENST00000591208:exon4:c.C279T:p.G93G;	5.99653744782812E-5	0.0
18	12329133	T	A	18	12329134	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	7.48306501328221E-5	0.0
18	12329133	T	C	18	12329134	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	4.11713759611921E-5	0.0
18	12329133	T	G	18	12329134	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	4.11713759611921E-5	0.0
18	12329134	T	A	18	12329135	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	2.455930068921E-5	0.002
18	12329134	T	C	18	12329135	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	5.38731564659595E-5	0.002
18	12329134	T	G	18	12329135	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	5.38731564659595E-5	0.002
18	12329135	A	C	18	12329136	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	2.56756011639792E-5	0.018
18	12329135	A	G	18	12329136	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	2.56756011639792E-5	0.018
18	12329135	A	T	18	12329136	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	2.56756011639792E-5	0.012
18	12329136	A	C	18	12329137	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	1.77978745885032E-4	0.002
18	12329136	A	G	18	12329137	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	1.77978745885032E-4	0.002
18	12329136	A	T	18	12329137	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	3.821824429032E-4	0.002
18	12329137	T	A	18	12329138	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	6.99263190704948E-5	0.0
18	12329137	T	C	18	12329138	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	6.99263190704948E-5	0.0
18	12329137	T	G	18	12329138	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	6.99263190704948E-5	0.0
18	12329138	T	A	18	12329139	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	4.04096031973704E-5	0.008
18	12329138	T	C	18	12329139	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	4.04096031973704E-5	0.008
18	12329138	T	G	18	12329139	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	4.04096031973704E-5	0.008
18	12329139	T	A	18	12329140	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	3.52984868830034E-5	0.002
18	12329139	T	C	18	12329140	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	2.455930068921E-5	0.002
18	12329139	T	G	18	12329140	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	2.455930068921E-5	0.002
18	12329140	C	A	18	12329141	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	6.07826059035764E-5	0.038
18	12329140	C	G	18	12329141	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	6.07826059035764E-5	0.044
18	12329140	C	T	18	12329141	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	6.07826059035764E-5	0.038
18	12329141	A	C	18	12329142	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	9.09934931150151E-4	0.016
18	12329141	A	G	18	12329142	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	9.09934931150151E-4	0.016
18	12329141	A	T	18	12329142	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	9.09934931150151E-4	0.016
18	12329142	C	A	18	12329143	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	3.31929338280547E-5	0.0
18	12329142	C	G	18	12329143	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	3.07620641825897E-5	0.0
18	12329142	C	T	18	12329143	n	y	UTR3	AFG3L2	.	.	UTR3	ENSG00000141385	.	.	3.31929338280547E-5	0.004
18	12329143	A	C	18	12329144	n	y	UTR3	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000591909:exon4:c.278-2A>C)	.	.	8.79799075153017E-4	0.014
18	12329143	A	G	18	12329144	n	y	UTR3	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000591909:exon4:c.278-2A>G)	.	.	8.79799075153017E-4	0.014
18	12329143	A	T	18	12329144	n	y	UTR3	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000591909:exon4:c.278-2A>T)	.	.	4.90648592491649E-4	0.016
18	12329144	G	A	18	12329145	n	y	UTR3	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000591909:exon4:c.278-1G>A)	.	.	5.64328173172739E-4	0.006
18	12329144	G	C	18	12329145	n	y	UTR3	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000591909:exon4:c.278-1G>C)	.	.	5.64328173172739E-4	0.01
18	12329144	G	T	18	12329145	n	y	UTR3	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000591909:exon4:c.278-1G>T)	.	.	5.64328173172739E-4	0.006
18	12329145	C	A	18	12329146	n	y	UTR3	AFG3L2	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000591909:exon4:c.C278A:p.A93D;	6.05670308788612E-5	0.01
18	12329145	C	G	18	12329146	n	y	UTR3	AFG3L2	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000591909:exon4:c.C278G:p.A93G;	2.55166398316256E-5	0.006
18	12329145	C	T	18	12329146	n	y	UTR3	AFG3L2	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000591909:exon4:c.C278T:p.A93V;	6.05670308788612E-5	0.006
18	12329146	C	A	18	12329147	n	y	UTR3	AFG3L2	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000591909:exon4:c.C279A:p.A93A;	2.59802355779309E-5	0.0
18	12329146	C	G	18	12329147	n	y	UTR3	AFG3L2	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000591909:exon4:c.C279G:p.A93A;	2.59802355779309E-5	0.002
18	12329146	C	T	18	12329147	n	y	UTR3	AFG3L2	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000591909:exon4:c.C279T:p.A93A;	2.59802355779309E-5	0.0
18	12329781	A	C	18	12329782	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.T2177G:p.V726G;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon17:c.T2177G:p.V726G;	0.80747203305591	0.398
18	12329781	A	G	18	12329782	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.T2177C:p.V726A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon17:c.T2177C:p.V726A;	0.86849775650249	0.536
18	12329781	A	T	18	12329782	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.T2177A:p.V726D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon17:c.T2177A:p.V726D;	0.906106271571649	0.41
18	12329782	C	A	18	12329783	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.G2176T:p.V726F;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon17:c.G2176T:p.V726F;	0.999868174950892	0.988
18	12329782	C	G	18	12329783	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.G2176C:p.V726L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon17:c.G2176C:p.V726L;	0.999864493658679	0.986
18	12329782	C	T	18	12329783	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.G2176A:p.V726I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon17:c.G2176A:p.V726I;	0.998239618750931	0.852
18	12329783	C	A	18	12329784	y	y	splicing	AFG3L2(NM_006796:exon18:c.2176-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon18:c.2176-1G>T)	.	.	0.999987670894945	0.94
18	12329783	C	G	18	12329784	y	y	splicing	AFG3L2(NM_006796:exon18:c.2176-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon18:c.2176-1G>C)	.	.	0.999987670894945	0.94
18	12329783	C	T	18	12329784	y	y	splicing	AFG3L2(NM_006796:exon18:c.2176-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon18:c.2176-1G>A)	.	.	0.999987670894945	0.94
18	12329784	T	A	18	12329785	y	y	splicing	AFG3L2(NM_006796:exon18:c.2176-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon18:c.2176-2A>T)	.	.	0.999986741007567	0.938
18	12329784	T	C	18	12329785	y	y	splicing	AFG3L2(NM_006796:exon18:c.2176-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon18:c.2176-2A>G)	.	.	0.999986741007567	0.938
18	12329784	T	G	18	12329785	y	y	splicing	AFG3L2(NM_006796:exon18:c.2176-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon18:c.2176-2A>C)	.	.	0.999986741007567	0.938
18	12329785	G	A	18	12329786	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.0317393349569336	0.178
18	12329785	G	C	18	12329786	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.999130643502893	0.944
18	12329785	G	T	18	12329786	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.516648910495798	0.684
18	12329786	A	C	18	12329787	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.00128783131008456	0.184
18	12329786	A	G	18	12329787	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	4.66300903746864E-4	0.228
18	12329786	A	T	18	12329787	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	3.06854256784706E-4	0.054
18	12329787	A	C	18	12329788	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.989057633018378	0.872
18	12329787	A	G	18	12329788	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.166594957972942	0.266
18	12329787	A	T	18	12329788	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.990058942135762	0.902
18	12329788	A	C	18	12329789	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.999933868512808	0.95
18	12329788	A	G	18	12329789	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	7.65079781746964E-4	0.138
18	12329788	A	T	18	12329789	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.849411703854813	0.628
18	12329789	T	A	18	12329790	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.27219349862041E-5	0.008
18	12329789	T	C	18	12329790	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.88956703580252E-5	0.016
18	12329789	T	G	18	12329790	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.27219349862041E-5	0.0
18	12329790	A	C	18	12329791	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.999921641278724	1.0
18	12329790	A	G	18	12329791	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.0182946192193E-4	0.048
18	12329790	A	T	18	12329791	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.00445902389282062	0.116
18	12329791	T	A	18	12329792	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.32199379777825E-5	0.008
18	12329791	T	C	18	12329792	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.24212994613149E-5	0.0
18	12329791	T	G	18	12329792	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.32199379777825E-5	0.008
18	12329792	G	A	18	12329793	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.20462237133157E-5	0.0
18	12329792	G	C	18	12329793	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	6.31503725710056E-4	0.042
18	12329792	G	T	18	12329793	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.04617270813326E-4	0.046
18	12329793	A	C	18	12329794	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.567883711909634	0.596
18	12329793	A	G	18	12329794	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.0332117861828781	0.25
18	12329793	A	T	18	12329794	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.576141948512438	0.696
18	12329794	A	C	18	12329795	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.633970447605126	0.606
18	12329794	A	G	18	12329795	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.00344554617907541	0.108
18	12329794	A	T	18	12329795	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.487250836121544	0.652
18	12337100	T	A	18	12337101	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.99839321085983E-5	0.01
18	12337100	T	C	18	12337101	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.99839321085983E-5	0.01
18	12337100	T	G	18	12337101	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.99839321085983E-5	0.01
18	12337101	T	A	18	12337102	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.455930068921E-5	0.006
18	12337101	T	C	18	12337102	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.455930068921E-5	0.006
18	12337101	T	G	18	12337102	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.455930068921E-5	0.006
18	12337102	A	C	18	12337103	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	8.25896182624293E-5	0.0
18	12337102	A	G	18	12337103	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	7.48306501328221E-5	0.0
18	12337102	A	T	18	12337103	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	8.25896182624293E-5	0.0
18	12337103	A	C	18	12337104	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.86075475573093E-5	0.0
18	12337103	A	G	18	12337104	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.86075475573093E-5	0.0
18	12337103	A	T	18	12337104	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.06520082605731E-4	0.0
18	12337104	T	A	18	12337105	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.19348260541807E-5	0.002
18	12337104	T	C	18	12337105	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.19348260541807E-5	0.006
18	12337104	T	G	18	12337105	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.19348260541807E-5	0.042
18	12337105	C	A	18	12337106	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.35742017695309E-5	0.002
18	12337105	C	G	18	12337106	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.82683257725706E-5	0.01
18	12337105	C	T	18	12337106	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.35742017695309E-5	0.0
18	12337106	A	C	18	12337107	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	8.3500733371869E-5	0.002
18	12337106	A	G	18	12337107	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	8.3500733371869E-5	0.002
18	12337106	A	T	18	12337107	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	8.3500733371869E-5	0.0
18	12337107	T	A	18	12337108	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.83797748812033E-5	0.0
18	12337107	T	C	18	12337108	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.70337218186484E-5	0.0
18	12337107	T	G	18	12337108	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.70337218186484E-5	0.0
18	12337108	T	A	18	12337109	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.06520082605731E-4	0.0
18	12337108	T	C	18	12337109	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.86075475573093E-5	0.0
18	12337108	T	G	18	12337109	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.86075475573093E-5	0.0
18	12337109	C	A	18	12337110	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.52932449848953E-5	0.002
18	12337109	C	G	18	12337110	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.52932449848953E-5	0.002
18	12337109	C	T	18	12337110	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.52932449848953E-5	0.006
18	12337110	A	C	18	12337111	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000590967:exon4:c.278-2A>C)	.	.	6.38113264713725E-5	0.04
18	12337110	A	G	18	12337111	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000590967:exon4:c.278-2A>G)	.	.	6.38113264713725E-5	0.04
18	12337110	A	T	18	12337111	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000590967:exon4:c.278-2A>T)	.	.	6.38113264713725E-5	0.04
18	12337111	G	A	18	12337112	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000590967:exon4:c.278-1G>A)	.	.	5.64124613648393E-5	0.0
18	12337111	G	C	18	12337112	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000590967:exon4:c.278-1G>C)	.	.	3.10375415512646E-5	0.0
18	12337111	G	T	18	12337112	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000590967:exon4:c.278-1G>T)	.	.	3.10375415512646E-5	0.004
18	12337112	T	A	18	12337113	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000590967:exon4:c.T278A:p.V93D;	6.38113264713725E-5	0.01
18	12337112	T	C	18	12337113	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000590967:exon4:c.T278C:p.V93A;	6.38113264713725E-5	0.01
18	12337112	T	G	18	12337113	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	nonsynonymous SNV	ENSG00000176014:ENST00000590967:exon4:c.T278G:p.V93G;	6.38113264713725E-5	0.014
18	12337113	C	A	18	12337114	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000590967:exon4:c.C279A:p.V93V;	4.47039489069415E-5	0.0
18	12337113	C	G	18	12337114	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000590967:exon4:c.C279G:p.V93V;	4.14301101535901E-5	0.0
18	12337113	C	T	18	12337114	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	synonymous SNV	ENSG00000176014:ENST00000590967:exon4:c.C279T:p.V93V;	4.47039489069415E-5	0.004
18	12337332	G	A	18	12337333	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.5032647174132E-4	0.026
18	12337332	G	C	18	12337333	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.47269748984444E-4	0.028
18	12337332	G	T	18	12337333	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.5032647174132E-4	0.026
18	12337333	C	A	18	12337334	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.80722015971514E-5	0.0
18	12337333	C	G	18	12337334	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.12222617106884E-5	0.002
18	12337333	C	T	18	12337334	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.87919739168893E-5	0.0
18	12337334	A	C	18	12337335	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0283159914601282	0.298
18	12337334	A	G	18	12337335	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0790670973243089	0.314
18	12337334	A	T	18	12337335	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.103868014186873	0.328
18	12337335	C	A	18	12337336	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.995075009469119	0.758
18	12337335	C	G	18	12337336	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.993802033882748	0.768
18	12337335	C	T	18	12337336	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.988490660701365	0.672
18	12337336	C	A	18	12337337	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.91473000011365E-4	0.028
18	12337336	C	G	18	12337337	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.28075082733199E-4	0.052
18	12337336	C	T	18	12337337	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.92022974473125E-4	0.03
18	12337337	T	A	18	12337338	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.09291420295414	0.362
18	12337337	T	C	18	12337338	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.00985430162161425	0.192
18	12337337	T	G	18	12337338	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.446428274968796	0.446
18	12337338	A	C	18	12337339	y	y	splicing	AFG3L2(NM_006796:exon17:c.2175+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.2175+2T>G)	.	.	0.999988247793601	0.926
18	12337338	A	G	18	12337339	y	y	splicing	AFG3L2(NM_006796:exon17:c.2175+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.2175+2T>C)	.	.	0.988163425542712	0.648
18	12337338	A	T	18	12337339	y	y	splicing	AFG3L2(NM_006796:exon17:c.2175+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.2175+2T>A)	.	.	0.999988247793601	0.926
18	12337339	C	A	18	12337340	y	y	splicing	AFG3L2(NM_006796:exon17:c.2175+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.2175+1G>T)	.	.	0.999985532734767	0.936
18	12337339	C	G	18	12337340	y	y	splicing	AFG3L2(NM_006796:exon17:c.2175+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.2175+1G>C)	.	.	0.999985532734767	0.936
18	12337339	C	T	18	12337340	y	y	splicing	AFG3L2(NM_006796:exon17:c.2175+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.2175+1G>A)	.	.	0.999985532734767	0.936
18	12337340	C	A	18	12337341	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.G2175T:p.K725N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.G2175T:p.K725N;	0.999928049375097	0.998
18	12337340	C	G	18	12337341	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.G2175C:p.K725N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.G2175C:p.K725N;	0.999939210813223	0.99
18	12337340	C	T	18	12337341	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon16:c.G2175A:p.K725K;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.G2175A:p.K725K;	0.995820892408562	0.96
18	12337341	T	A	18	12337342	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.A2174T:p.K725M;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.A2174T:p.K725M;	0.999562136274522	0.984
18	12337341	T	C	18	12337342	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.A2174G:p.K725R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.A2174G:p.K725R;	0.998270574896115	0.992
18	12337341	T	G	18	12337342	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.A2174C:p.K725T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.A2174C:p.K725T;	0.994586414896062	0.954
18	12337342	T	A	18	12337343	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon16:c.A2173T:p.K725X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon16:c.A2173T:p.K725X;	0.989549517070661	0.708
18	12337342	T	C	18	12337343	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.A2173G:p.K725E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.A2173G:p.K725E;	0.232364475775405	0.434
18	12337342	T	G	18	12337343	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.A2173C:p.K725Q;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.A2173C:p.K725Q;	0.571019865341967	0.548
18	12337533	A	C	18	12337534	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.T1982G:p.I661S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.T1982G:p.I661S;	0.607146383576467	0.558
18	12337533	A	G	18	12337534	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.T1982C:p.I661T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.T1982C:p.I661T;	0.658791857329805	0.574
18	12337533	A	T	18	12337534	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.T1982A:p.I661N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.T1982A:p.I661N;	0.648409591371772	0.542
18	12337534	T	A	18	12337535	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.A1981T:p.I661F;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.A1981T:p.I661F;	0.735259107265607	0.576
18	12337534	T	C	18	12337535	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.A1981G:p.I661V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.A1981G:p.I661V;	4.50681524657018E-4	0.016
18	12337534	T	G	18	12337535	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon16:c.A1981C:p.I661L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon16:c.A1981C:p.I661L;	0.735259107265607	0.64
18	12337535	C	A	18	12337536	y	y	splicing	AFG3L2(NM_006796:exon17:c.1981-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.1981-1G>T)	.	.	0.999985532734767	0.936
18	12337535	C	G	18	12337536	y	y	splicing	AFG3L2(NM_006796:exon17:c.1981-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.1981-1G>C)	.	.	0.999985532734767	0.936
18	12337535	C	T	18	12337536	y	y	splicing	AFG3L2(NM_006796:exon17:c.1981-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.1981-1G>A)	.	.	0.999985532734767	0.936
18	12337536	T	A	18	12337537	y	y	splicing	AFG3L2(NM_006796:exon17:c.1981-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.1981-2A>T)	.	.	0.999988247793601	0.928
18	12337536	T	C	18	12337537	y	y	splicing	AFG3L2(NM_006796:exon17:c.1981-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.1981-2A>G)	.	.	0.999988247793601	0.928
18	12337536	T	G	18	12337537	y	y	splicing	AFG3L2(NM_006796:exon17:c.1981-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon17:c.1981-2A>C)	.	.	0.999988247793601	0.928
18	12337537	G	A	18	12337538	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0608484708434155	0.106
18	12337537	G	C	18	12337538	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.99989127515916	0.932
18	12337537	G	T	18	12337538	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.97716822275181	0.696
18	12337538	A	C	18	12337539	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.64215617536147E-4	0.006
18	12337538	A	G	18	12337539	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	8.53554625005333E-5	0.012
18	12337538	A	T	18	12337539	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	7.38874710919806E-5	0.004
18	12337539	A	C	18	12337540	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.993510743323013	0.862
18	12337539	A	G	18	12337540	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.112018317013331	0.192
18	12337539	A	T	18	12337540	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.987478825701883	0.882
18	12337540	A	C	18	12337541	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.220635214919992	0.388
18	12337540	A	G	18	12337541	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.11382213679066E-4	0.01
18	12337540	A	T	18	12337541	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.220635214919992	0.384
18	12337541	A	C	18	12337542	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.153194809211896	0.268
18	12337541	A	G	18	12337542	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.48992243715567E-4	0.038
18	12337541	A	T	18	12337542	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0894553152138485	0.266
18	12337542	A	C	18	12337543	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.999183201404338	0.98
18	12337542	A	G	18	12337543	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.61101785186485E-5	0.0
18	12337542	A	T	18	12337543	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.00374504023317561	0.028
18	12337543	T	A	18	12337544	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.51715955169506E-5	0.0
18	12337543	T	C	18	12337544	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.28364156542855E-5	0.0
18	12337543	T	G	18	12337544	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.33865453971791E-5	0.0
18	12337544	A	C	18	12337545	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.00698271502908996	0.188
18	12337544	A	G	18	12337545	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.75056881355636E-4	0.032
18	12337544	A	T	18	12337545	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0089059802542474	0.122
18	12337545	C	A	18	12337546	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.55908716824608E-5	0.0
18	12337545	C	G	18	12337546	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.55908716824608E-5	0.0
18	12337545	C	T	18	12337546	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.70399810869632E-5	0.016
18	12337546	A	C	18	12337547	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.999653615624587	0.948
18	12337546	A	G	18	12337547	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.16372134212493E-4	0.002
18	12337546	A	T	18	12337547	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.999573720876507	0.982
18	12340192	A	C	18	12340193	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.42515848952951E-4	0.002
18	12340192	A	G	18	12340193	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.42515848952951E-4	0.002
18	12340192	A	T	18	12340193	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.06578423544062E-4	0.0
18	12340193	T	A	18	12340194	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.14754113182492E-5	0.0
18	12340193	T	C	18	12340194	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	7.67735955014861E-6	0.0
18	12340193	T	G	18	12340194	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	7.82152694110954E-6	0.0
18	12340194	A	C	18	12340195	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0408586044815104	0.288
18	12340194	A	G	18	12340195	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0374793257979533	0.184
18	12340194	A	T	18	12340195	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.238974782629907	0.422
18	12340195	C	A	18	12340196	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.999976743478645	0.962
18	12340195	C	G	18	12340196	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.999982923343729	0.97
18	12340195	C	T	18	12340196	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.999780702401657	0.918
18	12340196	T	A	18	12340197	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.973285267028919	0.76
18	12340196	T	C	18	12340197	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.985623515068835	0.814
18	12340196	T	G	18	12340197	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.434412155956819	0.536
18	12340197	C	A	18	12340198	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.245150771994294	0.354
18	12340197	C	G	18	12340198	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.705745479474677	0.44
18	12340197	C	T	18	12340198	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.05321763436849E-5	0.0
18	12340198	A	C	18	12340199	y	y	splicing	AFG3L2(NM_006796:exon16:c.1980+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1980+2T>G)	.	.	0.999988247793601	0.926
18	12340198	A	G	18	12340199	y	y	splicing	AFG3L2(NM_006796:exon16:c.1980+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1980+2T>C)	.	.	0.999929727175276	0.858
18	12340198	A	T	18	12340199	y	y	splicing	AFG3L2(NM_006796:exon16:c.1980+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1980+2T>A)	.	.	0.999988247793601	0.926
18	12340199	C	A	18	12340200	y	y	splicing	AFG3L2(NM_006796:exon16:c.1980+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1980+1G>T)	.	.	0.999985532734767	0.936
18	12340199	C	G	18	12340200	y	y	splicing	AFG3L2(NM_006796:exon16:c.1980+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1980+1G>C)	.	.	0.999985532734767	0.928
18	12340199	C	T	18	12340200	y	y	splicing	AFG3L2(NM_006796:exon16:c.1980+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1980+1G>A)	.	.	0.999985532734767	0.936
18	12340200	T	A	18	12340201	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.A1980T:p.Q660H;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.A1980T:p.Q660H;	2.02503730364626E-5	0.046
18	12340200	T	C	18	12340201	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon15:c.A1980G:p.Q660Q;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.A1980G:p.Q660Q;	4.36527775285147E-5	0.04
18	12340200	T	G	18	12340201	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.A1980C:p.Q660H;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.A1980C:p.Q660H;	8.56332612927013E-6	0.044
18	12340201	T	A	18	12340202	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.A1979T:p.Q660L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.A1979T:p.Q660L;	0.998539117610536	0.96
18	12340201	T	C	18	12340202	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.A1979G:p.Q660R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.A1979G:p.Q660R;	0.997491226856975	0.964
18	12340201	T	G	18	12340202	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.A1979C:p.Q660P;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.A1979C:p.Q660P;	0.996951673792053	0.956
18	12340202	G	A	18	12340203	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon15:c.C1978T:p.Q660X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon15:c.C1978T:p.Q660X;	0.999726456960423	0.936
18	12340202	G	C	18	12340203	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.C1978G:p.Q660E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.C1978G:p.Q660E;	0.896207238145454	0.66
18	12340202	G	T	18	12340203	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.C1978A:p.Q660K;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.C1978A:p.Q660K;	0.955033518856875	0.79
18	12340399	A	C	18	12340400	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.T1781G:p.V594G;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.T1781G:p.V594G;	0.86358251037898	0.584
18	12340399	A	G	18	12340400	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.T1781C:p.V594A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.T1781C:p.V594A;	0.885296507828258	0.572
18	12340399	A	T	18	12340400	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.T1781A:p.V594E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.T1781A:p.V594E;	0.891752678985488	0.512
18	12340400	C	A	18	12340401	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.G1780T:p.V594L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.G1780T:p.V594L;	0.999945853356322	0.994
18	12340400	C	G	18	12340401	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.G1780C:p.V594L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.G1780C:p.V594L;	0.999908229454936	0.984
18	12340400	C	T	18	12340401	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon15:c.G1780A:p.V594I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon15:c.G1780A:p.V594I;	0.99984692645162	0.952
18	12340401	C	A	18	12340402	y	y	splicing	AFG3L2(NM_006796:exon16:c.1780-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1780-1G>T)	.	.	0.999990361384395	0.938
18	12340401	C	G	18	12340402	y	y	splicing	AFG3L2(NM_006796:exon16:c.1780-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1780-1G>C)	.	.	0.999990361384395	0.938
18	12340401	C	T	18	12340402	y	y	splicing	AFG3L2(NM_006796:exon16:c.1780-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1780-1G>A)	.	.	0.999990361384395	0.938
18	12340402	T	A	18	12340403	y	y	splicing	AFG3L2(NM_006796:exon16:c.1780-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1780-2A>T)	.	.	0.999988247793601	0.93
18	12340402	T	C	18	12340403	y	y	splicing	AFG3L2(NM_006796:exon16:c.1780-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1780-2A>G)	.	.	0.999988247793601	0.93
18	12340402	T	G	18	12340403	y	y	splicing	AFG3L2(NM_006796:exon16:c.1780-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon16:c.1780-2A>C)	.	.	0.999988247793601	0.93
18	12340403	G	A	18	12340404	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.001549827327792	0.098
18	12340403	G	C	18	12340404	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.99965706595201	0.952
18	12340403	G	T	18	12340404	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.493095818207397	0.58
18	12340404	G	A	18	12340405	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.39025918519629E-4	0.004
18	12340404	G	C	18	12340405	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.882671133120971	0.642
18	12340404	G	T	18	12340405	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.06070926532781E-5	0.0
18	12340405	T	A	18	12340406	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.74197544164644E-5	0.0
18	12340405	T	C	18	12340406	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	9.70346574393769E-5	0.0
18	12340405	T	G	18	12340406	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.75560337893143E-5	0.002
18	12340406	A	C	18	12340407	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0321605411374284	0.43
18	12340406	A	G	18	12340407	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.52609962785377E-4	0.01
18	12340406	A	T	18	12340407	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0284622299049754	0.436
18	12340407	A	C	18	12340408	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0206229333534833	0.03
18	12340407	A	G	18	12340408	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.88895197559057E-5	0.0
18	12340407	A	T	18	12340408	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.00541771362689686	0.034
18	12340408	G	A	18	12340409	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.88235124749752E-5	0.002
18	12340408	G	C	18	12340409	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.999948294657855	0.988
18	12340408	G	T	18	12340409	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	9.27009673318061E-4	0.02
18	12340409	T	A	18	12340410	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.06000560999702E-5	0.006
18	12340409	T	C	18	12340410	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.5798249822166E-5	0.0
18	12340409	T	G	18	12340410	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.76188322675786E-5	0.012
18	12340410	A	C	18	12340411	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0596763694509064	0.432
18	12340410	A	G	18	12340411	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.97106108716158E-4	0.002
18	12340410	A	T	18	12340411	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0175391080528248	0.318
18	12340411	G	A	18	12340412	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.95278011238195E-5	0.0
18	12340411	G	C	18	12340412	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.1387104236783E-5	0.008
18	12340411	G	T	18	12340412	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	2.50394200693266E-4	0.004
18	12340412	A	C	18	12340413	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0176378974897097	0.174
18	12340412	A	G	18	12340413	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	7.97273355841735E-5	0.004
18	12340412	A	T	18	12340413	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	0.0699600861136779	0.2
18	12344036	T	A	18	12344037	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.86764315709017E-5	0.0
18	12344036	T	C	18	12344037	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.39457982047225E-5	0.0
18	12344036	T	G	18	12344037	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.39457982047225E-5	0.0
18	12344037	C	A	18	12344038	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.08692400722682E-5	0.0
18	12344037	C	G	18	12344038	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.08692400722682E-5	0.0
18	12344037	C	T	18	12344038	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.04349982970396E-5	0.0
18	12344038	T	A	18	12344039	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.40702949384805E-4	0.02
18	12344038	T	C	18	12344039	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.0873240580039E-4	0.02
18	12344038	T	G	18	12344039	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	1.40702949384805E-4	0.02
18	12344039	C	A	18	12344040	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.63906183251032E-4	0.002
18	12344039	C	G	18	12344040	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.63906183251032E-4	0.002
18	12344039	C	T	18	12344040	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.63906183251032E-4	0.002
18	12344040	C	A	18	12344041	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.17825650598919E-5	0.0
18	12344040	C	G	18	12344041	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.17825650598919E-5	0.0
18	12344040	C	T	18	12344041	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	4.17825650598919E-5	0.0
18	12344041	T	A	18	12344042	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.50312366030491E-5	0.0
18	12344041	T	C	18	12344042	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.50312366030491E-5	0.0
18	12344041	T	G	18	12344042	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.50312366030491E-5	0.0
18	12344042	T	A	18	12344043	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.15267776820636E-5	0.0
18	12344042	T	C	18	12344043	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.91564032431422E-5	0.004
18	12344042	T	G	18	12344043	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.91564032431422E-5	0.002
18	12344043	T	A	18	12344044	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.69439264402225E-5	0.002
18	12344043	T	C	18	12344044	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.15941453541388E-5	0.004
18	12344043	T	G	18	12344044	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	5.15941453541388E-5	0.004
18	12344044	G	A	18	12344045	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.89210916601576E-5	0.0
18	12344044	G	C	18	12344045	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.89210916601576E-5	0.0
18	12344044	G	T	18	12344045	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.89210916601576E-5	0.0
18	12344045	C	A	18	12344046	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.89925739660516E-5	0.004
18	12344045	C	G	18	12344046	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	3.31929338280547E-5	0.002
18	12344045	C	T	18	12344046	n	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385;ENSG00000176014	.	.	6.89925739660516E-5	0.004
18	12344046	A	C	18	12344047	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000586691:exon2:c.88-2A>C)	.	.	2.86080732310785E-5	0.002
18	12344046	A	G	18	12344047	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000586691:exon2:c.88-2A>G)	.	.	2.86080732310785E-5	0.002
18	12344046	A	T	18	12344047	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000586691:exon2:c.88-2A>T)	.	.	2.86080732310785E-5	0.002
18	12344047	G	A	18	12344048	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000586691:exon2:c.88-1G>A)	.	.	6.89210916601576E-5	0.0
18	12344047	G	C	18	12344048	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000586691:exon2:c.88-1G>C)	.	.	6.89210916601576E-5	0.0
18	12344047	G	T	18	12344048	n	y	intronic	AFG3L2	.	.	splicing	ENSG00000176014(ENST00000586691:exon2:c.88-1G>T)	.	.	6.89210916601576E-5	0.0
18	12344048	G	A	18	12344049	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	unknown	UNKNOWN	7.3525528897954E-5	0.004
18	12344048	G	C	18	12344049	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	unknown	UNKNOWN	7.3525528897954E-5	0.006
18	12344048	G	T	18	12344049	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	unknown	UNKNOWN	7.3525528897954E-5	0.004
18	12344049	A	C	18	12344050	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	unknown	UNKNOWN	3.39529611572298E-5	0.008
18	12344049	A	G	18	12344050	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	unknown	UNKNOWN	3.39529611572298E-5	0.008
18	12344049	A	T	18	12344050	n	y	intronic	AFG3L2	.	.	exonic	ENSG00000176014	unknown	UNKNOWN	3.39529611572298E-5	0.008
18	12344123	T	A	18	12344124	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.12581597765867E-4	0.006
18	12344123	T	C	18	12344124	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.28432307659281E-4	0.0
18	12344123	T	G	18	12344124	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.13478157145693E-4	0.004
18	12344124	G	A	18	12344125	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	3.84071313702697E-4	0.016
18	12344124	G	C	18	12344125	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	4.27752899498527E-4	0.134
18	12344124	G	T	18	12344125	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.214233116931E-4	0.002
18	12344125	C	A	18	12344126	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.09746387224557E-4	0.02
18	12344125	C	G	18	12344126	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	5.40952580163E-4	0.04
18	12344125	C	T	18	12344126	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.00106373881632979	0.026
18	12344126	T	A	18	12344127	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.00167443925553218	0.106
18	12344126	T	C	18	12344127	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	5.8301450726569E-4	0.052
18	12344126	T	G	18	12344127	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	3.44858115183762E-4	0.034
18	12344127	T	A	18	12344128	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.992101861687162	0.818
18	12344127	T	C	18	12344128	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.99557533378943	0.896
18	12344127	T	G	18	12344128	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.880006960248497	0.636
18	12344128	C	A	18	12344129	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.511985742352796	0.444
18	12344128	C	G	18	12344129	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.720789660963457	0.522
18	12344128	C	T	18	12344129	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.51946131709311E-4	0.126
18	12344129	A	C	18	12344130	y	y	splicing	AFG3L2(NM_006796:exon15:c.1779+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1779+2T>G)	.	.	0.999988624979899	0.938
18	12344129	A	G	18	12344130	y	y	splicing	AFG3L2(NM_006796:exon15:c.1779+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1779+2T>C)	.	.	0.999941766692792	0.864
18	12344129	A	T	18	12344130	y	y	splicing	AFG3L2(NM_006796:exon15:c.1779+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1779+2T>A)	.	.	0.999988624979899	0.938
18	12344130	C	A	18	12344131	y	y	splicing	AFG3L2(NM_006796:exon15:c.1779+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1779+1G>T)	.	.	0.999984967332678	0.946
18	12344130	C	G	18	12344131	y	y	splicing	AFG3L2(NM_006796:exon15:c.1779+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1779+1G>C)	.	.	0.999984967332678	0.946
18	12344130	C	T	18	12344131	y	y	splicing	AFG3L2(NM_006796:exon15:c.1779+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1779+1G>A)	.	.	0.999984967332678	0.946
18	12344131	C	A	18	12344132	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.G1779T:p.K593N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.G1779T:p.K593N;	0.999992806544101	1.0
18	12344131	C	G	18	12344132	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.G1779C:p.K593N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.G1779C:p.K593N;	0.999997577404125	1.0
18	12344131	C	T	18	12344132	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon14:c.G1779A:p.K593K;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.G1779A:p.K593K;	0.999991779448316	0.998
18	12344132	T	A	18	12344133	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.A1778T:p.K593M;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.A1778T:p.K593M;	0.999952219202547	0.998
18	12344132	T	C	18	12344133	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.A1778G:p.K593R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.A1778G:p.K593R;	0.999968108543336	0.998
18	12344132	T	G	18	12344133	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.A1778C:p.K593T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.A1778C:p.K593T;	0.999857815721973	0.98
18	12344133	T	A	18	12344134	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon14:c.A1777T:p.K593X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon14:c.A1777T:p.K593X;	0.988844376760164	0.858
18	12344133	T	C	18	12344134	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.A1777G:p.K593E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.A1777G:p.K593E;	0.196162065232912	0.434
18	12344133	T	G	18	12344134	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.A1777C:p.K593Q;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.A1777C:p.K593Q;	0.6120841747465	0.68
18	12344245	G	A	18	12344246	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon14:c.C1665T:p.G555G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.C1665T:p.G555G;	1.20472520554741E-4	0.014
18	12344245	G	C	18	12344246	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon14:c.C1665G:p.G555G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.C1665G:p.G555G;	8.34373194866742E-5	0.004
18	12344245	G	T	18	12344246	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon14:c.C1665A:p.G555G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.C1665A:p.G555G;	5.69050297501702E-5	0.004
18	12344246	C	A	18	12344247	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.G1664T:p.G555V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.G1664T:p.G555V;	0.999502180383887	0.994
18	12344246	C	G	18	12344247	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.G1664C:p.G555A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.G1664C:p.G555A;	0.99940887139795	0.954
18	12344246	C	T	18	12344247	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon14:c.G1664A:p.G555D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon14:c.G1664A:p.G555D;	0.992377369694474	0.926
18	12344247	C	A	18	12344248	y	y	splicing	AFG3L2(NM_006796:exon15:c.1664-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1664-1G>T)	.	.	0.999986675681007	0.934
18	12344247	C	G	18	12344248	y	y	splicing	AFG3L2(NM_006796:exon15:c.1664-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1664-1G>C)	.	.	0.999986675681007	0.934
18	12344247	C	T	18	12344248	y	y	splicing	AFG3L2(NM_006796:exon15:c.1664-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1664-1G>A)	.	.	0.999986675681007	0.934
18	12344248	T	A	18	12344249	y	y	splicing	AFG3L2(NM_006796:exon15:c.1664-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1664-2A>T)	.	.	0.999989917668626	0.926
18	12344248	T	C	18	12344249	y	y	splicing	AFG3L2(NM_006796:exon15:c.1664-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1664-2A>G)	.	.	0.999989917668626	0.926
18	12344248	T	G	18	12344249	y	y	splicing	AFG3L2(NM_006796:exon15:c.1664-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon15:c.1664-2A>C)	.	.	0.999989917668626	0.926
18	12344249	A	C	18	12344250	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.998191541752287	0.696
18	12344249	A	G	18	12344250	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.32765731163107E-4	0.012
18	12344249	A	T	18	12344250	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.200411391085594	0.3
18	12344250	A	C	18	12344251	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	7.68287251317476E-5	0.002
18	12344250	A	G	18	12344251	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.22174731335263E-5	0.0
18	12344250	A	T	18	12344251	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.2914767359773E-5	0.0
18	12344251	C	A	18	12344252	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	5.1245349955566E-5	0.046
18	12344251	C	G	18	12344252	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	5.1245349955566E-5	0.026
18	12344251	C	T	18	12344252	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.70776342092539E-5	0.012
18	12344252	A	C	18	12344253	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.23117073638196	0.426
18	12344252	A	G	18	12344253	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.84820964560079E-4	0.012
18	12344252	A	T	18	12344253	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.999942282673075	0.974
18	12344253	A	C	18	12344254	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.00191739410308328	0.14
18	12344253	A	G	18	12344254	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	9.46926995503634E-5	0.0
18	12344253	A	T	18	12344254	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.0288737857666654	0.15
18	12344254	A	C	18	12344255	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.00408575689956301	0.148
18	12344254	A	G	18	12344255	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	3.86873975485713E-5	0.014
18	12344254	A	T	18	12344255	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.0311839227797511	0.14
18	12344255	A	C	18	12344256	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.999963378045115	0.952
18	12344255	A	G	18	12344256	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.0281146182974361	0.244
18	12344255	A	T	18	12344256	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.993679782122458	0.87
18	12344256	T	A	18	12344257	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.33198918216817E-5	0.084
18	12344256	T	C	18	12344257	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	2.65258284548966E-5	0.058
18	12344256	T	G	18	12344257	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	1.71463838087458E-5	0.082
18	12344257	A	C	18	12344258	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.962407645125789	0.654
18	12344257	A	G	18	12344258	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.0161554355873169	0.164
18	12344257	A	T	18	12344258	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.987168672965642	0.716
18	12344258	A	C	18	12344259	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.13776054990292	0.41
18	12344258	A	G	18	12344259	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	5.63928140349037E-5	0.134
18	12344258	A	T	18	12344259	y	y	intronic	AFG3L2	.	.	UTR3	ENSG00000176014	.	.	0.956382916200484	0.596
18	12348264	T	A	18	12348265	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.31524023438878E-4	0.024
18	12348264	T	C	18	12348265	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.44068036278013E-4	0.012
18	12348264	T	G	18	12348265	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.44068036278013E-4	0.014
18	12348265	T	A	18	12348266	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.92538403784103E-5	0.006
18	12348265	T	C	18	12348266	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.46140561636046E-5	0.006
18	12348265	T	G	18	12348266	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.46140561636046E-5	0.006
18	12348266	C	A	18	12348267	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.13132544345341E-5	0.004
18	12348266	C	G	18	12348267	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.88787342267091E-5	0.002
18	12348266	C	T	18	12348267	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.07070236256421E-5	0.0
18	12348267	C	A	18	12348268	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999819064211933	0.936
18	12348267	C	G	18	12348268	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999839288015228	0.97
18	12348267	C	T	18	12348268	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998198254599848	0.992
18	12348268	T	A	18	12348269	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998468605510333	0.944
18	12348268	T	C	18	12348269	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.996254268900467	0.908
18	12348268	T	G	18	12348269	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.994238513033086	0.762
18	12348269	T	A	18	12348270	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.99974972856656	0.914
18	12348269	T	C	18	12348270	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.756769146815178	0.558
18	12348269	T	G	18	12348270	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999841791148931	0.918
18	12348270	A	C	18	12348271	y	y	splicing	AFG3L2(NM_006796:exon14:c.1663+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1663+2T>G)	.	.	0.999988247793601	0.928
18	12348270	A	G	18	12348271	y	y	splicing	AFG3L2(NM_006796:exon14:c.1663+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1663+2T>C)	.	.	0.99991522016916	0.898
18	12348270	A	T	18	12348271	y	y	splicing	AFG3L2(NM_006796:exon14:c.1663+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1663+2T>A)	.	.	0.999988247793601	0.928
18	12348271	C	A	18	12348272	y	y	splicing	AFG3L2(NM_006796:exon14:c.1663+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1663+1G>T)	.	.	0.999985532734767	0.936
18	12348271	C	G	18	12348272	y	y	splicing	AFG3L2(NM_006796:exon14:c.1663+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1663+1G>C)	.	.	0.999985532734767	0.936
18	12348271	C	T	18	12348272	y	y	splicing	AFG3L2(NM_006796:exon14:c.1663+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1663+1G>A)	.	.	0.999985532734767	0.936
18	12348272	C	A	18	12348273	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1663T:p.G555C;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1663T:p.G555C;	0.999964301714026	0.978
18	12348272	C	G	18	12348273	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1663C:p.G555R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1663C:p.G555R;	0.999996579472455	1.0
18	12348272	C	T	18	12348273	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1663A:p.G555S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1663A:p.G555S;	0.999970473508143	0.992
18	12348273	A	C	18	12348274	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon13:c.T1662G:p.G554G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.T1662G:p.G554G;	2.38640417844071E-4	0.03
18	12348273	A	G	18	12348274	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon13:c.T1662C:p.G554G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.T1662C:p.G554G;	3.7493683172985E-4	0.022
18	12348273	A	T	18	12348274	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon13:c.T1662A:p.G554G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.T1662A:p.G554G;	2.93919701649111E-4	0.222
18	12348274	C	A	18	12348275	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1661T:p.G554V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1661T:p.G554V;	0.961758359124276	0.85
18	12348274	C	G	18	12348275	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1661C:p.G554A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1661C:p.G554A;	0.127931038116039	0.244
18	12348274	C	T	18	12348275	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1661A:p.G554D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1661A:p.G554D;	0.907293198927463	0.784
18	12348381	A	C	18	12348382	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon13:c.T1554G:p.G518G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.T1554G:p.G518G;	2.64697020057458E-4	0.014
18	12348381	A	G	18	12348382	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon13:c.T1554C:p.G518G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.T1554C:p.G518G;	2.94924760525501E-4	0.018
18	12348381	A	T	18	12348382	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon13:c.T1554A:p.G518G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.T1554A:p.G518G;	3.65914545153317E-4	0.006
18	12348382	C	A	18	12348383	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1553T:p.G518V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1553T:p.G518V;	0.999713315258342	1.0
18	12348382	C	G	18	12348383	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1553C:p.G518A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1553C:p.G518A;	0.999108237317279	0.978
18	12348382	C	T	18	12348383	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon13:c.G1553A:p.G518D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon13:c.G1553A:p.G518D;	0.998761360360662	0.93
18	12348383	C	A	18	12348384	y	y	splicing	AFG3L2(NM_006796:exon14:c.1553-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1553-1G>T)	.	.	0.999989263107695	0.936
18	12348383	C	G	18	12348384	y	y	splicing	AFG3L2(NM_006796:exon14:c.1553-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1553-1G>C)	.	.	0.999989263107695	0.934
18	12348383	C	T	18	12348384	y	y	splicing	AFG3L2(NM_006796:exon14:c.1553-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1553-1G>A)	.	.	0.999989263107695	0.936
18	12348384	T	A	18	12348385	y	y	splicing	AFG3L2(NM_006796:exon14:c.1553-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1553-2A>T)	.	.	0.999988247793601	0.93
18	12348384	T	C	18	12348385	y	y	splicing	AFG3L2(NM_006796:exon14:c.1553-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1553-2A>G)	.	.	0.999988247793601	0.93
18	12348384	T	G	18	12348385	y	y	splicing	AFG3L2(NM_006796:exon14:c.1553-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon14:c.1553-2A>C)	.	.	0.999988247793601	0.93
18	12348385	A	C	18	12348386	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.267567431964953	0.572
18	12348385	A	G	18	12348386	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.82203749658262E-5	0.016
18	12348385	A	T	18	12348386	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.75543632511054E-4	0.222
18	12348386	A	C	18	12348387	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.53696120786186E-4	0.022
18	12348386	A	G	18	12348387	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.60954763205133E-4	0.01
18	12348386	A	T	18	12348387	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.33884690510192E-4	0.022
18	12348387	A	C	18	12348388	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.889318248924142	0.65
18	12348387	A	G	18	12348388	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.45795595535826E-4	0.034
18	12348387	A	T	18	12348388	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.838287804982588	0.626
18	12348388	A	C	18	12348389	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0510053740292873	0.392
18	12348388	A	G	18	12348389	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.29779906831368E-4	0.016
18	12348388	A	T	18	12348389	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.263620899499163	0.358
18	12348389	A	C	18	12348390	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.054311044676664	0.31
18	12348389	A	G	18	12348390	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.43671245332387E-4	0.0
18	12348389	A	T	18	12348390	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0254362797991061	0.286
18	12348390	A	C	18	12348391	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.99948793409172	0.974
18	12348390	A	G	18	12348391	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.73057954070228E-4	0.006
18	12348390	A	T	18	12348391	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.101570812841105	0.39
18	12348391	T	A	18	12348392	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.76184606338513E-6	0.006
18	12348391	T	C	18	12348392	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.29911366775488E-5	0.028
18	12348391	T	G	18	12348392	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.53676212321166E-6	0.028
18	12348392	G	A	18	12348393	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.08365679898464E-5	0.0
18	12348392	G	C	18	12348393	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.83542928642975E-4	0.058
18	12348392	G	T	18	12348393	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.99114857475629E-4	0.064
18	12348393	A	C	18	12348394	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.34691093454171	0.476
18	12348393	A	G	18	12348394	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00338403399771843	0.14
18	12348393	A	T	18	12348394	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.850190886552432	0.624
18	12348394	A	C	18	12348395	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0384302641323385	0.224
18	12348394	A	G	18	12348395	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.73704604350038E-4	0.012
18	12348394	A	T	18	12348395	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0763472958090138	0.244
18	12351076	C	A	18	12351077	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.68952365742707E-5	0.004
18	12351076	C	G	18	12351077	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.68952365742707E-5	0.002
18	12351076	C	T	18	12351077	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.88563338073588E-5	0.0
18	12351077	C	A	18	12351078	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.42257032480281E-5	0.0
18	12351077	C	G	18	12351078	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.12786175346948E-5	0.0
18	12351077	C	T	18	12351078	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.76309044455717E-5	0.0
18	12351078	A	C	18	12351079	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0233841786177745	0.232
18	12351078	A	G	18	12351079	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.512368761125364	0.356
18	12351078	A	T	18	12351079	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.283523933784894	0.448
18	12351079	C	A	18	12351080	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999337568454411	0.9
18	12351079	C	G	18	12351080	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999555185862785	0.848
18	12351079	C	T	18	12351080	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999305409345817	0.91
18	12351080	T	A	18	12351081	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.85545548732789	0.614
18	12351080	T	C	18	12351081	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.790636336048678	0.55
18	12351080	T	G	18	12351081	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.15502927508789	0.266
18	12351081	C	A	18	12351082	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.788866742474383	0.534
18	12351081	C	G	18	12351082	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.847229699191521	0.612
18	12351081	C	T	18	12351082	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.86227758833947E-4	0.034
18	12351082	A	C	18	12351083	y	y	splicing	AFG3L2(NM_006796:exon13:c.1552+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1552+2T>G)	.	.	0.999988247793601	0.928
18	12351082	A	G	18	12351083	y	y	splicing	AFG3L2(NM_006796:exon13:c.1552+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1552+2T>C)	.	.	0.99991520749976	0.864
18	12351082	A	T	18	12351083	y	y	splicing	AFG3L2(NM_006796:exon13:c.1552+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1552+2T>A)	.	.	0.999988247793601	0.93
18	12351083	C	A	18	12351084	y	y	splicing	AFG3L2(NM_006796:exon13:c.1552+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1552+1G>T)	.	.	0.999989072007339	0.934
18	12351083	C	G	18	12351084	y	y	splicing	AFG3L2(NM_006796:exon13:c.1552+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1552+1G>C)	.	.	0.999989072007339	0.934
18	12351083	C	T	18	12351084	y	y	splicing	AFG3L2(NM_006796:exon13:c.1552+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1552+1G>A)	.	.	0.999989072007339	0.934
18	12351084	C	A	18	12351085	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon12:c.G1552T:p.G518C;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.G1552T:p.G518C;	0.999613532169489	0.946
18	12351084	C	G	18	12351085	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon12:c.G1552C:p.G518R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.G1552C:p.G518R;	0.999960567600058	0.974
18	12351084	C	T	18	12351085	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon12:c.G1552A:p.G518S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.G1552A:p.G518S;	0.999879655936604	0.992
18	12351085	T	A	18	12351086	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon12:c.A1551T:p.S517S;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.A1551T:p.S517S;	0.250091222351199	0.594
18	12351085	T	C	18	12351086	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon12:c.A1551G:p.S517S;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.A1551G:p.S517S;	0.180868818951776	0.468
18	12351085	T	G	18	12351086	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon12:c.A1551C:p.S517S;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.A1551C:p.S517S;	0.0714187623811322	0.57
18	12351086	G	A	18	12351087	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon12:c.C1550T:p.S517L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.C1550T:p.S517L;	0.996723100652367	0.794
18	12351086	G	C	18	12351087	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon12:c.C1550G:p.S517X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon12:c.C1550G:p.S517X;	0.945533697031076	0.638
18	12351086	G	T	18	12351087	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon12:c.C1550A:p.S517X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon12:c.C1550A:p.S517X;	0.964307607801508	0.844
18	12351208	T	A	18	12351209	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon12:c.A1428T:p.G476G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.A1428T:p.G476G;	4.42148245656747E-4	0.054
18	12351208	T	C	18	12351209	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon12:c.A1428G:p.G476G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.A1428G:p.G476G;	0.00128071522332707	0.162
18	12351208	T	G	18	12351209	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon12:c.A1428C:p.G476G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.A1428C:p.G476G;	0.00152635589918105	0.13
18	12351209	C	A	18	12351210	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon12:c.G1427T:p.G476V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.G1427T:p.G476V;	0.999909799402869	0.942
18	12351209	C	G	18	12351210	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon12:c.G1427C:p.G476A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.G1427C:p.G476A;	0.999916751595477	0.898
18	12351209	C	T	18	12351210	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon12:c.G1427A:p.G476E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon12:c.G1427A:p.G476E;	0.99978060409103	0.888
18	12351210	C	A	18	12351211	y	y	splicing	AFG3L2(NM_006796:exon13:c.1427-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1427-1G>T)	.	.	0.999978115769202	0.882
18	12351210	C	G	18	12351211	y	y	splicing	AFG3L2(NM_006796:exon13:c.1427-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1427-1G>C)	.	.	0.999978115769202	0.882
18	12351210	C	T	18	12351211	y	y	splicing	AFG3L2(NM_006796:exon13:c.1427-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1427-1G>A)	.	.	0.999978115769202	0.882
18	12351211	T	A	18	12351212	y	y	splicing	AFG3L2(NM_006796:exon13:c.1427-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1427-2A>T)	.	.	0.999914511980801	0.882
18	12351211	T	C	18	12351212	y	y	splicing	AFG3L2(NM_006796:exon13:c.1427-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1427-2A>G)	.	.	0.999914511980801	0.882
18	12351211	T	G	18	12351212	y	y	splicing	AFG3L2(NM_006796:exon13:c.1427-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon13:c.1427-2A>C)	.	.	0.999914511980801	0.882
18	12351212	T	A	18	12351213	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.61436812666141E-4	0.03
18	12351212	T	C	18	12351213	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0987372785048995	0.198
18	12351212	T	G	18	12351213	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00103307819141939	0.04
18	12351213	T	A	18	12351214	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.33688398550304E-4	0.016
18	12351213	T	C	18	12351214	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00128975071502564	0.066
18	12351213	T	G	18	12351214	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.46672674720441E-4	0.028
18	12351214	A	C	18	12351215	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.978845235314083	0.816
18	12351214	A	G	18	12351215	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00605942569016826	0.194
18	12351214	A	T	18	12351215	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.547885013548957	0.688
18	12351215	G	A	18	12351216	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.80195479784477E-4	0.078
18	12351215	G	C	18	12351216	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.685493690518221	0.48
18	12351215	G	T	18	12351216	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.143357044331473	0.462
18	12351216	A	C	18	12351217	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.699348361809072	0.594
18	12351216	A	G	18	12351217	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.6795185467081E-4	0.078
18	12351216	A	T	18	12351217	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.741299884948001	0.61
18	12351217	A	C	18	12351218	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.252482365683736	0.474
18	12351217	A	G	18	12351218	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.02184905471178E-4	0.04
18	12351217	A	T	18	12351218	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.81235356944256	0.65
18	12351218	A	C	18	12351219	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999455122921529	0.926
18	12351218	A	G	18	12351219	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00335225376732806	0.104
18	12351218	A	T	18	12351219	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.729079612379982	0.742
18	12351219	T	A	18	12351220	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.86480040807546E-5	0.002
18	12351219	T	C	18	12351220	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.79134770981379E-5	0.002
18	12351219	T	G	18	12351220	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.86480040807546E-5	0.026
18	12351220	C	A	18	12351221	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.26677106401135E-6	0.042
18	12351220	C	G	18	12351221	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.4676956918502E-6	0.012
18	12351220	C	T	18	12351221	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.12020933417532E-5	0.012
18	12351221	A	C	18	12351222	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999353450798163	0.958
18	12351221	A	G	18	12351222	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0113237372726786	0.136
18	12351221	A	T	18	12351222	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999353450798163	0.952
18	12351297	C	A	18	12351298	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.84897716872244E-4	0.02
18	12351297	C	G	18	12351298	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.36889199915913E-5	0.0
18	12351297	C	T	18	12351298	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.5116592745381E-4	0.002
18	12351298	A	C	18	12351299	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.86519644892061E-5	0.014
18	12351298	A	G	18	12351299	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.86519644892061E-5	0.014
18	12351298	A	T	18	12351299	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.86519644892061E-5	0.014
18	12351299	T	A	18	12351300	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.42951236021517E-5	0.002
18	12351299	T	C	18	12351300	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.58218091221223E-5	0.0
18	12351299	T	G	18	12351300	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.3454324562262E-5	0.012
18	12351300	C	A	18	12351301	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999911050921697	0.928
18	12351300	C	G	18	12351301	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999931262696162	0.988
18	12351300	C	T	18	12351301	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999942164913077	0.988
18	12351301	T	A	18	12351302	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999777422711939	0.958
18	12351301	T	C	18	12351302	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999744352495569	0.98
18	12351301	T	G	18	12351302	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998645017142812	0.894
18	12351302	C	A	18	12351303	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.99729468096582	0.688
18	12351302	C	G	18	12351303	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.981612891466402	0.668
18	12351302	C	T	18	12351303	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.4163328758017E-4	0.018
18	12351303	A	C	18	12351304	y	y	splicing	AFG3L2(NM_006796:exon12:c.1426+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1426+2T>G)	.	.	0.999986741007567	0.936
18	12351303	A	G	18	12351304	y	y	splicing	AFG3L2(NM_006796:exon12:c.1426+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1426+2T>C)	.	.	0.999990713472995	0.944
18	12351303	A	T	18	12351304	y	y	splicing	AFG3L2(NM_006796:exon12:c.1426+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1426+2T>A)	.	.	0.999986741007567	0.936
18	12351304	C	A	18	12351305	y	y	splicing	AFG3L2(NM_006796:exon12:c.1426+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1426+1G>T)	.	.	0.999987670894945	0.94
18	12351304	C	G	18	12351305	y	y	splicing	AFG3L2(NM_006796:exon12:c.1426+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1426+1G>C)	.	.	0.999987670894945	0.94
18	12351304	C	T	18	12351305	y	y	splicing	AFG3L2(NM_006796:exon12:c.1426+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1426+1G>A)	.	.	0.999987670894945	0.94
18	12351305	C	A	18	12351306	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon11:c.G1426T:p.G476X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon11:c.G1426T:p.G476X;	0.99999294798245	0.966
18	12351305	C	G	18	12351306	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.G1426C:p.G476R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.G1426C:p.G476R;	0.999996349882544	0.99
18	12351305	C	T	18	12351306	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.G1426A:p.G476R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.G1426A:p.G476R;	0.999997427231691	1.0
18	12351306	A	C	18	12351307	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.T1425G:p.I475M;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1425G:p.I475M;	2.42399446087887E-4	0.168
18	12351306	A	G	18	12351307	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon11:c.T1425C:p.I475I;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1425C:p.I475I;	2.26741749126405E-4	0.122
18	12351306	A	T	18	12351307	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon11:c.T1425A:p.I475I;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1425A:p.I475I;	3.10916970561414E-5	0.104
18	12351307	A	C	18	12351308	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.T1424G:p.I475S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1424G:p.I475S;	0.728151858303221	0.688
18	12351307	A	G	18	12351308	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.T1424C:p.I475T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1424C:p.I475T;	0.605523206129082	0.6
18	12351307	A	T	18	12351308	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.T1424A:p.I475N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1424A:p.I475N;	0.605523206129082	0.646
18	12351411	A	C	18	12351412	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon11:c.T1320G:p.G440G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1320G:p.G440G;	1.49856402028241E-4	0.008
18	12351411	A	G	18	12351412	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon11:c.T1320C:p.G440G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1320C:p.G440G;	2.1278589202677E-4	0.024
18	12351411	A	T	18	12351412	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon11:c.T1320A:p.G440G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.T1320A:p.G440G;	2.29785862089375E-4	0.012
18	12351412	C	A	18	12351413	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.G1319T:p.G440V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.G1319T:p.G440V;	0.999496493390347	0.91
18	12351412	C	G	18	12351413	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.G1319C:p.G440A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.G1319C:p.G440A;	0.999523545998479	0.924
18	12351412	C	T	18	12351413	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon11:c.G1319A:p.G440D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon11:c.G1319A:p.G440D;	0.996918961365333	0.76
18	12351413	C	A	18	12351414	y	y	splicing	AFG3L2(NM_006796:exon12:c.1319-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1319-1G>T)	.	.	0.999989072007339	0.934
18	12351413	C	G	18	12351414	y	y	splicing	AFG3L2(NM_006796:exon12:c.1319-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1319-1G>C)	.	.	0.999989072007339	0.934
18	12351413	C	T	18	12351414	y	y	splicing	AFG3L2(NM_006796:exon12:c.1319-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1319-1G>A)	.	.	0.999989072007339	0.934
18	12351414	T	A	18	12351415	y	y	splicing	AFG3L2(NM_006796:exon12:c.1319-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1319-2A>T)	.	.	0.999988247793601	0.932
18	12351414	T	C	18	12351415	y	y	splicing	AFG3L2(NM_006796:exon12:c.1319-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1319-2A>G)	.	.	0.999988247793601	0.93
18	12351414	T	G	18	12351415	y	y	splicing	AFG3L2(NM_006796:exon12:c.1319-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon12:c.1319-2A>C)	.	.	0.999988247793601	0.932
18	12351415	G	A	18	12351416	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.73003652596011E-4	0.024
18	12351415	G	C	18	12351416	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.991279771179728	0.854
18	12351415	G	T	18	12351416	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.215926125632162	0.412
18	12351416	A	C	18	12351417	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.67962355580161E-4	0.0
18	12351416	A	G	18	12351417	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.4396591280105E-5	0.0
18	12351416	A	T	18	12351417	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.2128303772367E-4	0.002
18	12351417	A	C	18	12351418	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.420192493035888	0.562
18	12351417	A	G	18	12351418	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.28231725732507E-4	0.024
18	12351417	A	T	18	12351418	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.543611584443197	0.564
18	12351418	A	C	18	12351419	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.038264395880098	0.274
18	12351418	A	G	18	12351419	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.30042517834593E-4	0.008
18	12351418	A	T	18	12351419	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0460029526445754	0.248
18	12351419	G	A	18	12351420	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.59341296071197E-5	0.0
18	12351419	G	C	18	12351420	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.06488133404492E-5	0.01
18	12351419	G	T	18	12351420	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.78876645709758E-5	0.024
18	12351420	A	C	18	12351421	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.915387629492426	0.938
18	12351420	A	G	18	12351421	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.25485068073797E-6	0.002
18	12351420	A	T	18	12351421	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.82541999230835E-4	0.022
18	12351421	T	A	18	12351422	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.94577042938292E-5	0.01
18	12351421	T	C	18	12351422	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.51104044972817E-5	0.006
18	12351421	T	G	18	12351422	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.02955698331007E-5	0.006
18	12351422	A	C	18	12351423	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.22843091400507	0.49
18	12351422	A	G	18	12351423	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.14709727924963E-4	0.048
18	12351422	A	T	18	12351423	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.331796655453847	0.464
18	12351423	A	C	18	12351424	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0508506718344627	0.332
18	12351423	A	G	18	12351424	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.18794913292812E-4	0.062
18	12351423	A	T	18	12351424	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0709891183953327	0.346
18	12351424	C	A	18	12351425	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.82731841860504E-5	0.0
18	12351424	C	G	18	12351425	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.18932418783883E-5	0.0
18	12351424	C	T	18	12351425	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.23069462674674E-5	0.0
18	12352996	C	A	18	12352997	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.61944226810758E-5	0.002
18	12352996	C	G	18	12352997	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.61944226810758E-5	0.0
18	12352996	C	T	18	12352997	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.61944226810758E-5	0.0
18	12352997	C	A	18	12352998	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.65492287198503E-5	0.0
18	12352997	C	G	18	12352998	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.77547636659262E-5	0.0
18	12352997	C	T	18	12352998	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.91577944109263E-5	0.0
18	12352998	A	C	18	12352999	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0157236752708518	0.174
18	12352998	A	G	18	12352999	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0591107901949514	0.168
18	12352998	A	T	18	12352999	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.205171839968266	0.24
18	12352999	C	A	18	12353000	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.936680285313448	0.57
18	12352999	C	G	18	12353000	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.953230620800826	0.64
18	12352999	C	T	18	12353000	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.808521808024887	0.576
18	12353000	T	A	18	12353001	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.986945133904478	0.764
18	12353000	T	C	18	12353001	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.984775122884931	0.744
18	12353000	T	G	18	12353001	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.163083642650621	0.374
18	12353001	C	A	18	12353002	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.953280970172266	0.556
18	12353001	C	G	18	12353002	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.992716914207979	0.674
18	12353001	C	T	18	12353002	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.6119253839509E-4	0.034
18	12353002	A	C	18	12353003	y	y	splicing	AFG3L2(NM_006796:exon11:c.1318+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1318+2T>G)	.	.	0.999978952611685	0.926
18	12353002	A	G	18	12353003	y	y	splicing	AFG3L2(NM_006796:exon11:c.1318+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1318+2T>C)	.	.	0.999874152059392	0.86
18	12353002	A	T	18	12353003	y	y	splicing	AFG3L2(NM_006796:exon11:c.1318+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1318+2T>A)	.	.	0.999978952611685	0.928
18	12353003	C	A	18	12353004	y	y	splicing	AFG3L2(NM_006796:exon11:c.1318+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1318+1G>T)	.	.	0.999985532734767	0.936
18	12353003	C	G	18	12353004	y	y	splicing	AFG3L2(NM_006796:exon11:c.1318+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1318+1G>C)	.	.	0.999985532734767	0.936
18	12353003	C	T	18	12353004	y	y	splicing	AFG3L2(NM_006796:exon11:c.1318+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1318+1G>A)	.	.	0.999985532734767	0.936
18	12353004	C	A	18	12353005	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.G1318T:p.G440C;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.G1318T:p.G440C;	0.999945212075885	0.96
18	12353004	C	G	18	12353005	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.G1318C:p.G440R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.G1318C:p.G440R;	0.999987637270735	0.958
18	12353004	C	T	18	12353005	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.G1318A:p.G440S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.G1318A:p.G440S;	0.999973773680148	0.992
18	12353005	A	C	18	12353006	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.T1317G:p.D439E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.T1317G:p.D439E;	6.79214864502668E-5	0.126
18	12353005	A	G	18	12353006	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon10:c.T1317C:p.D439D;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.T1317C:p.D439D;	2.94707337415805E-5	0.0
18	12353005	A	T	18	12353006	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.T1317A:p.D439E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.T1317A:p.D439E;	3.32821876027236E-5	0.128
18	12353006	T	A	18	12353007	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.A1316T:p.D439V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.A1316T:p.D439V;	0.913971328165221	0.606
18	12353006	T	C	18	12353007	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.A1316G:p.D439G;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.A1316G:p.D439G;	0.625259082665644	0.46
18	12353006	T	G	18	12353007	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.A1316C:p.D439A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.A1316C:p.D439A;	0.865077338200815	0.612
18	12353156	A	C	18	12353157	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.T1166G:p.V389G;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.T1166G:p.V389G;	0.556017638799174	0.346
18	12353156	A	G	18	12353157	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.T1166C:p.V389A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.T1166C:p.V389A;	0.508848383701073	0.358
18	12353156	A	T	18	12353157	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.T1166A:p.V389D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.T1166A:p.V389D;	0.67656060126145	0.408
18	12353157	C	A	18	12353158	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.G1165T:p.V389F;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.G1165T:p.V389F;	0.999929035051242	0.982
18	12353157	C	G	18	12353158	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.G1165C:p.V389L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.G1165C:p.V389L;	0.999892605666337	0.986
18	12353157	C	T	18	12353158	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon10:c.G1165A:p.V389I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon10:c.G1165A:p.V389I;	0.999750584397168	0.934
18	12353158	C	A	18	12353159	y	y	splicing	AFG3L2(NM_006796:exon11:c.1165-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1165-1G>T)	.	.	0.999974090184857	0.946
18	12353158	C	G	18	12353159	y	y	splicing	AFG3L2(NM_006796:exon11:c.1165-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1165-1G>C)	.	.	0.999974090184857	0.94
18	12353158	C	T	18	12353159	y	y	splicing	AFG3L2(NM_006796:exon11:c.1165-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1165-1G>A)	.	.	0.999974090184857	0.946
18	12353159	T	A	18	12353160	y	y	splicing	AFG3L2(NM_006796:exon11:c.1165-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1165-2A>T)	.	.	0.999966203349492	0.962
18	12353159	T	C	18	12353160	y	y	splicing	AFG3L2(NM_006796:exon11:c.1165-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1165-2A>G)	.	.	0.999966514958823	0.962
18	12353159	T	G	18	12353160	y	y	splicing	AFG3L2(NM_006796:exon11:c.1165-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon11:c.1165-2A>C)	.	.	0.999966514958823	0.962
18	12353160	T	A	18	12353161	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.09725813547102E-5	0.014
18	12353160	T	C	18	12353161	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.188205589706482	0.374
18	12353160	T	G	18	12353161	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.71732540824056E-5	0.046
18	12353161	G	A	18	12353162	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.88594680916414E-5	0.0
18	12353161	G	C	18	12353162	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.93884037455692E-4	0.042
18	12353161	G	T	18	12353162	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.88594680916414E-5	0.0
18	12353162	G	A	18	12353163	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.0291873933743E-5	0.0
18	12353162	G	C	18	12353163	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.7589411666806E-4	0.028
18	12353162	G	T	18	12353163	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.50033500742111E-4	0.046
18	12353163	C	A	18	12353164	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.87998016647132E-5	0.01
18	12353163	C	G	18	12353164	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.86703628253648E-5	0.024
18	12353163	C	T	18	12353164	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.6181933095265E-4	0.004
18	12353164	A	C	18	12353165	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00211629010364842	0.052
18	12353164	A	G	18	12353165	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.74446184589626E-4	0.074
18	12353164	A	T	18	12353165	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.995803563593622	0.892
18	12353165	A	C	18	12353166	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.81034677473665E-4	0.2
18	12353165	A	G	18	12353166	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.04640931212684E-5	0.0
18	12353165	A	T	18	12353166	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.010194776119973	0.18
18	12353166	A	C	18	12353167	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0115480803497607	0.26
18	12353166	A	G	18	12353167	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.14184251082719E-4	0.016
18	12353166	A	T	18	12353167	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0283147954026731	0.264
18	12353167	A	C	18	12353168	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00717776986685723	0.288
18	12353167	A	G	18	12353168	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.16839196693485E-4	0.108
18	12353167	A	T	18	12353168	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0112426327244868	0.284
18	12353168	A	C	18	12353169	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.117116384406956	0.512
18	12353168	A	G	18	12353169	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00260653144232875	0.172
18	12353168	A	T	18	12353169	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.164180224537475	0.488
18	12353169	C	A	18	12353170	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.28000136744866E-5	0.006
18	12353169	C	G	18	12353170	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.89957290847013E-5	0.006
18	12353169	C	T	18	12353170	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.54284859689423E-5	0.012
18	12356685	A	C	18	12356686	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.45196282507426E-4	0.0
18	12356685	A	G	18	12356686	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.45196282507426E-4	0.0
18	12356685	A	T	18	12356686	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.56893085266833E-4	0.014
18	12356686	G	A	18	12356687	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00477668369461263	0.122
18	12356686	G	C	18	12356687	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00200659250425415	0.018
18	12356686	G	T	18	12356687	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00572528284299504	0.038
18	12356687	A	C	18	12356688	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.996858287757666	0.904
18	12356687	A	G	18	12356688	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.993773724926305	0.972
18	12356687	A	T	18	12356688	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998176485271919	0.816
18	12356688	C	A	18	12356689	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999967871943985	0.986
18	12356688	C	G	18	12356689	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999976951031686	0.978
18	12356688	C	T	18	12356689	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999976951031686	1.0
18	12356689	T	A	18	12356690	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999730072070219	0.94
18	12356689	T	C	18	12356690	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999549116154112	0.952
18	12356689	T	G	18	12356690	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.996955242391351	0.898
18	12356690	C	A	18	12356691	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.994218334617011	0.632
18	12356690	C	G	18	12356691	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.99768946693753	0.7
18	12356690	C	T	18	12356691	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.93129696625308E-5	0.004
18	12356691	A	C	18	12356692	y	y	splicing	AFG3L2(NM_006796:exon10:c.1164+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1164+2T>G)	.	.	0.999988247793601	0.926
18	12356691	A	G	18	12356692	y	y	splicing	AFG3L2(NM_006796:exon10:c.1164+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1164+2T>C)	.	.	0.999936468769846	0.868
18	12356691	A	T	18	12356692	y	y	splicing	AFG3L2(NM_006796:exon10:c.1164+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1164+2T>A)	.	.	0.999988247793601	0.926
18	12356692	C	A	18	12356693	y	y	splicing	AFG3L2(NM_006796:exon10:c.1164+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1164+1G>T)	.	.	0.999986675681007	0.932
18	12356692	C	G	18	12356693	y	y	splicing	AFG3L2(NM_006796:exon10:c.1164+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1164+1G>C)	.	.	0.999986675681007	0.932
18	12356692	C	T	18	12356693	y	y	splicing	AFG3L2(NM_006796:exon10:c.1164+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1164+1G>A)	.	.	0.999986675681007	0.932
18	12356693	T	A	18	12356694	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.A1164T:p.R388S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.A1164T:p.R388S;	1.58089729934165E-4	0.154
18	12356693	T	C	18	12356694	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon9:c.A1164G:p.R388R;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.A1164G:p.R388R;	3.43533113273309E-4	0.052
18	12356693	T	G	18	12356694	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.A1164C:p.R388S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.A1164C:p.R388S;	1.94461926154597E-5	0.212
18	12356694	C	A	18	12356695	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1163T:p.R388I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1163T:p.R388I;	0.993635605611832	0.894
18	12356694	C	G	18	12356695	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1163C:p.R388T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1163C:p.R388T;	0.990103345496604	0.878
18	12356694	C	T	18	12356695	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1163A:p.R388K;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1163A:p.R388K;	0.960244339865776	0.624
18	12356695	T	A	18	12356696	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon9:c.A1162T:p.R388X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon9:c.A1162T:p.R388X;	0.208121127460123	0.45
18	12356695	T	C	18	12356696	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.A1162G:p.R388G;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.A1162G:p.R388G;	4.61325589589073E-4	0.22
18	12356695	T	G	18	12356696	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon9:c.A1162C:p.R388R;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.A1162C:p.R388R;	4.35092538851806E-5	0.004
18	12356829	C	A	18	12356830	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1028T:p.G343V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1028T:p.G343V;	0.976131389336756	0.824
18	12356829	C	G	18	12356830	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1028C:p.G343A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1028C:p.G343A;	0.984214429935512	0.824
18	12356829	C	T	18	12356830	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1028A:p.G343D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1028A:p.G343D;	0.989153739132897	0.88
18	12356830	C	A	18	12356831	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1027T:p.G343C;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1027T:p.G343C;	0.99994830930772	0.994
18	12356830	C	G	18	12356831	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1027C:p.G343R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1027C:p.G343R;	0.999800776081436	0.964
18	12356830	C	T	18	12356831	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon9:c.G1027A:p.G343S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon9:c.G1027A:p.G343S;	0.999724476996304	0.926
18	12356831	C	A	18	12356832	y	y	splicing	AFG3L2(NM_006796:exon10:c.1027-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1027-1G>T)	.	.	0.999990361384395	0.948
18	12356831	C	G	18	12356832	y	y	splicing	AFG3L2(NM_006796:exon10:c.1027-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1027-1G>C)	.	.	0.999990361384395	0.948
18	12356831	C	T	18	12356832	y	y	splicing	AFG3L2(NM_006796:exon10:c.1027-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1027-1G>A)	.	.	0.999990361384395	0.948
18	12356832	T	A	18	12356833	y	y	splicing	AFG3L2(NM_006796:exon10:c.1027-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1027-2A>T)	.	.	0.999989917668626	0.946
18	12356832	T	C	18	12356833	y	y	splicing	AFG3L2(NM_006796:exon10:c.1027-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1027-2A>G)	.	.	0.999989917668626	0.946
18	12356832	T	G	18	12356833	y	y	splicing	AFG3L2(NM_006796:exon10:c.1027-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon10:c.1027-2A>C)	.	.	0.999989917668626	0.946
18	12356833	T	A	18	12356834	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.93724589260292E-4	0.01
18	12356833	T	C	18	12356834	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.934786987563098	0.514
18	12356833	T	G	18	12356834	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.59958480305074E-4	0.072
18	12356834	C	A	18	12356835	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0150325940915879	0.058
18	12356834	C	G	18	12356835	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00806190650596329	0.028
18	12356834	C	T	18	12356835	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0140034294726375	0.036
18	12356835	A	C	18	12356836	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.976801805457184	0.674
18	12356835	A	G	18	12356836	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00961291875069845	0.162
18	12356835	A	T	18	12356836	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999437457820048	0.954
18	12356836	G	A	18	12356837	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.44613336473779E-4	0.0
18	12356836	G	C	18	12356837	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0170303488596464	0.432
18	12356836	G	T	18	12356837	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0119550044100516	0.4
18	12356837	A	C	18	12356838	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999954845975357	0.974
18	12356837	A	G	18	12356838	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00279956205396011	0.1
18	12356837	A	T	18	12356838	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.704322695888469	0.578
18	12356838	T	A	18	12356839	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.47953644422605E-5	0.004
18	12356838	T	C	18	12356839	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.11589192575685E-4	0.0
18	12356838	T	G	18	12356839	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.77463767482477E-5	0.006
18	12356839	A	C	18	12356840	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999865814332293	0.966
18	12356839	A	G	18	12356840	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0018551799295228	0.126
18	12356839	A	T	18	12356840	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0182419574609324	0.298
18	12356840	T	A	18	12356841	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.58008188215659E-5	0.002
18	12356840	T	C	18	12356841	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.75520652586963E-5	0.002
18	12356840	T	G	18	12356841	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.98557707940962E-5	0.018
18	12356841	G	A	18	12356842	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.59551896709084E-5	0.0
18	12356841	G	C	18	12356842	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00118880429006677	0.028
18	12356841	G	T	18	12356842	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.26786514390346E-4	0.054
18	12356842	A	C	18	12356843	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00741963493512161	0.286
18	12356842	A	G	18	12356843	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.30592893698671E-4	0.138
18	12356842	A	T	18	12356843	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0130163536724281	0.308
18	12358661	C	A	18	12358662	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.44313461718885E-4	0.004
18	12358661	C	G	18	12358662	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.68097753471566E-5	0.008
18	12358661	C	T	18	12358662	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.616925007394E-4	0.016
18	12358662	A	C	18	12358663	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.01027292724399E-4	0.004
18	12358662	A	G	18	12358663	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.93641577109148E-4	0.01
18	12358662	A	T	18	12358663	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.73120628167321E-4	0.01
18	12358663	T	A	18	12358664	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.09561904248863E-5	0.008
18	12358663	T	C	18	12358664	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.87088059363594E-4	0.024
18	12358663	T	G	18	12358664	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.32449744788024E-4	0.048
18	12358664	T	A	18	12358665	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.30207814356588E-4	0.028
18	12358664	T	C	18	12358665	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.69562448543143E-4	0.042
18	12358664	T	G	18	12358665	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.30763870459446E-4	0.028
18	12358665	T	A	18	12358666	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.834881042800337	0.366
18	12358665	T	C	18	12358666	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.399891564353815	0.33
18	12358665	T	G	18	12358666	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.179093486934537	0.306
18	12358666	T	A	18	12358667	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999658141837569	0.946
18	12358666	T	C	18	12358667	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999201853070074	0.91
18	12358666	T	G	18	12358667	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999907273598958	0.96
18	12358667	A	C	18	12358668	y	y	splicing	AFG3L2(NM_006796:exon9:c.1026+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.1026+2T>G)	.	.	0.999988247793601	0.93
18	12358667	A	G	18	12358668	y	y	splicing	AFG3L2(NM_006796:exon9:c.1026+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.1026+2T>C)	.	.	0.992577803696025	0.716
18	12358667	A	T	18	12358668	y	y	splicing	AFG3L2(NM_006796:exon9:c.1026+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.1026+2T>A)	.	.	0.999988247793601	0.93
18	12358668	C	A	18	12358669	y	y	splicing	AFG3L2(NM_006796:exon9:c.1026+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.1026+1G>T)	.	.	0.999990361384395	0.938
18	12358668	C	G	18	12358669	y	y	splicing	AFG3L2(NM_006796:exon9:c.1026+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.1026+1G>C)	.	.	0.999990361384395	0.938
18	12358668	C	T	18	12358669	y	y	splicing	AFG3L2(NM_006796:exon9:c.1026+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.1026+1G>A)	.	.	0.999990361384395	0.938
18	12358669	C	A	18	12358670	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.G1026T:p.K342N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.G1026T:p.K342N;	0.999989815109463	1.0
18	12358669	C	G	18	12358670	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.G1026C:p.K342N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.G1026C:p.K342N;	0.999998122414291	1.0
18	12358669	C	T	18	12358670	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon8:c.G1026A:p.K342K;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.G1026A:p.K342K;	0.999983650839743	1.0
18	12358670	T	A	18	12358671	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.A1025T:p.K342M;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.A1025T:p.K342M;	0.999879462712159	0.978
18	12358670	T	C	18	12358671	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.A1025G:p.K342R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.A1025G:p.K342R;	0.995068871374604	0.75
18	12358670	T	G	18	12358671	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.A1025C:p.K342T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.A1025C:p.K342T;	0.999556923703593	0.98
18	12358671	T	A	18	12358672	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon8:c.A1024T:p.K342X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon8:c.A1024T:p.K342X;	0.995946693006668	0.812
18	12358671	T	C	18	12358672	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.A1024G:p.K342E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.A1024G:p.K342E;	0.254980984376713	0.528
18	12358671	T	G	18	12358672	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.A1024C:p.K342Q;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.A1024C:p.K342Q;	0.78629250736564	0.806
18	12358941	A	C	18	12358942	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.T754G:p.S252A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.T754G:p.S252A;	0.00581045280357452	0.098
18	12358941	A	G	18	12358942	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.T754C:p.S252P;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.T754C:p.S252P;	0.197709907281142	0.296
18	12358941	A	T	18	12358942	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon8:c.T754A:p.S252T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.T754A:p.S252T;	0.0770719935886281	0.184
18	12358942	G	A	18	12358943	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon8:c.C753T:p.G251G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.C753T:p.G251G;	3.4026356481758E-5	0.038
18	12358942	G	C	18	12358943	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon8:c.C753G:p.G251G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.C753G:p.G251G;	1.03552359995048E-4	0.094
18	12358942	G	T	18	12358943	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon8:c.C753A:p.G251G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon8:c.C753A:p.G251G;	2.06481237244302E-5	0.0
18	12358943	C	A	18	12358944	y	y	splicing	AFG3L2(NM_006796:exon9:c.753-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.753-1G>T;ENST00000590811:exon6:c.388-1G>T)	.	.	0.999984967332678	0.938
18	12358943	C	G	18	12358944	y	y	splicing	AFG3L2(NM_006796:exon9:c.753-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.753-1G>C;ENST00000590811:exon6:c.388-1G>C)	.	.	0.999984967332678	0.938
18	12358943	C	T	18	12358944	y	y	splicing	AFG3L2(NM_006796:exon9:c.753-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.753-1G>A;ENST00000590811:exon6:c.388-1G>A)	.	.	0.999984967332678	0.938
18	12358944	T	A	18	12358945	y	y	splicing	AFG3L2(NM_006796:exon9:c.753-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.753-2A>T;ENST00000590811:exon6:c.388-2A>T)	.	.	0.999988624979899	0.93
18	12358944	T	C	18	12358945	y	y	splicing	AFG3L2(NM_006796:exon9:c.753-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.753-2A>G;ENST00000590811:exon6:c.388-2A>G)	.	.	0.999985223844491	0.926
18	12358944	T	G	18	12358945	y	y	splicing	AFG3L2(NM_006796:exon9:c.753-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon9:c.753-2A>C;ENST00000590811:exon6:c.388-2A>C)	.	.	0.999985223844491	0.926
18	12358945	G	A	18	12358946	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.80069079738463E-4	0.132
18	12358945	G	C	18	12358946	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.98989450631159	0.758
18	12358945	G	T	18	12358946	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.392103465426947	0.466
18	12358946	G	A	18	12358947	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.09664849638478E-5	0.0
18	12358946	G	C	18	12358947	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.77478575768503E-5	0.012
18	12358946	G	T	18	12358947	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.53503412409277E-5	0.0
18	12358947	G	A	18	12358948	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.3418655037404E-5	0.0
18	12358947	G	C	18	12358948	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.23358106396811E-4	0.078
18	12358947	G	T	18	12358948	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.90877921772161E-4	0.054
18	12358948	G	A	18	12358949	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.50988382005046E-4	0.02
18	12358948	G	C	18	12358949	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0236959969695176	0.384
18	12358948	G	T	18	12358949	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.186783274015671	0.432
18	12358949	A	C	18	12358950	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.530595757941272	0.462
18	12358949	A	G	18	12358950	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.3511876898448E-4	0.068
18	12358949	A	T	18	12358950	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.797427679450374	0.618
18	12358950	C	A	18	12358951	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.44742350381322E-5	0.032
18	12358950	C	G	18	12358951	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.42982077390183E-5	0.008
18	12358950	C	T	18	12358951	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00213123134554029	0.126
18	12358951	A	C	18	12358952	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.798764573915131	0.512
18	12358951	A	G	18	12358952	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00518702590820418	0.138
18	12358951	A	T	18	12358952	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999945294513187	0.976
18	12358952	C	A	18	12358953	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.65313443763404E-4	0.03
18	12358952	C	G	18	12358953	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.26757897917402E-4	0.0
18	12358952	C	T	18	12358953	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0024097237790728	0.078
18	12358953	A	C	18	12358954	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.898608612312296	0.554
18	12358953	A	G	18	12358954	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0026519762692511	0.17
18	12358953	A	T	18	12358954	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999865842597496	0.964
18	12358954	C	A	18	12358955	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.53576968013836E-5	0.038
18	12358954	C	G	18	12358955	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.53576968013836E-5	0.0
18	12358954	C	T	18	12358955	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.33368471737872E-5	0.026
18	12359918	G	A	18	12359919	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.07529194482061E-5	0.002
18	12359918	G	C	18	12359919	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.04900693216345E-6	0.0
18	12359918	G	T	18	12359919	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.06341561599038E-6	0.002
18	12359919	A	C	18	12359920	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.51023839692728E-5	0.022
18	12359919	A	G	18	12359920	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.51023839692728E-5	0.02
18	12359919	A	T	18	12359920	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.23430230498483E-5	0.02
18	12359920	G	A	18	12359921	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.84598736482645E-5	0.0
18	12359920	G	C	18	12359921	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.58547797404273E-5	0.016
18	12359920	G	T	18	12359921	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.83012006198916E-5	0.0
18	12359921	A	C	18	12359922	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.57677636584827E-4	0.004
18	12359921	A	G	18	12359922	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.05512602179885E-5	0.002
18	12359921	A	T	18	12359922	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.70421131609593E-4	0.06
18	12359922	T	A	18	12359923	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998241061768199	0.824
18	12359922	T	C	18	12359923	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999876583124438	0.904
18	12359922	T	G	18	12359923	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999767581789754	0.832
18	12359923	T	A	18	12359924	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999355236301984	0.904
18	12359923	T	C	18	12359924	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.982280692234531	0.782
18	12359923	T	G	18	12359924	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999063801188666	0.898
18	12359924	A	C	18	12359925	y	y	splicing	AFG3L2(NM_006796:exon8:c.752+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.752+2T>G;ENST00000590811:exon5:c.387+2T>G)	.	.	0.99995093252474	0.914
18	12359924	A	G	18	12359925	y	y	splicing	AFG3L2(NM_006796:exon8:c.752+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.752+2T>C;ENST00000590811:exon5:c.387+2T>C)	.	.	0.999517760658147	0.85
18	12359924	A	T	18	12359925	y	y	splicing	AFG3L2(NM_006796:exon8:c.752+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.752+2T>A;ENST00000590811:exon5:c.387+2T>A)	.	.	0.99995093252474	0.914
18	12359925	C	A	18	12359926	y	y	splicing	AFG3L2(NM_006796:exon8:c.752+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.752+1G>T;ENST00000590811:exon5:c.387+1G>T)	.	.	0.999969286908948	0.918
18	12359925	C	G	18	12359926	y	y	splicing	AFG3L2(NM_006796:exon8:c.752+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.752+1G>C;ENST00000590811:exon5:c.387+1G>C)	.	.	0.999969286908948	0.914
18	12359925	C	T	18	12359926	y	y	splicing	AFG3L2(NM_006796:exon8:c.752+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.752+1G>A;ENST00000590811:exon5:c.387+1G>A)	.	.	0.999969286908948	0.918
18	12359926	C	A	18	12359927	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.G752T:p.G251V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.G752T:p.G251V;	0.999933261881377	0.964
18	12359926	C	G	18	12359927	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.G752C:p.G251A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.G752C:p.G251A;	0.999883061796445	0.978
18	12359926	C	T	18	12359927	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.G752A:p.G251D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.G752A:p.G251D;	0.999987775971407	0.99
18	12359927	C	A	18	12359928	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.G751T:p.G251C;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.G751T:p.G251C;	0.98603836522051	0.834
18	12359927	C	G	18	12359928	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.G751C:p.G251R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.G751C:p.G251R;	0.991394679032116	0.802
18	12359927	C	T	18	12359928	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.G751A:p.G251S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.G751A:p.G251S;	0.952149676874543	0.582
18	12359928	A	C	18	12359929	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.T750G:p.D250E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.T750G:p.D250E;	3.98071703882379E-4	0.052
18	12359928	A	G	18	12359929	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon7:c.T750C:p.D250D;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.T750C:p.D250D;	4.7438394674264E-5	0.018
18	12359928	A	T	18	12359929	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.T750A:p.D250E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.T750A:p.D250E;	6.31091464768136E-5	0.024
18	12360049	T	A	18	12360050	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.A629T:p.Q210L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.A629T:p.Q210L;	8.59956967252742E-5	0.004
18	12360049	T	C	18	12360050	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.A629G:p.Q210R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.A629G:p.Q210R;	1.62231978302906E-4	0.018
18	12360049	T	G	18	12360050	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.A629C:p.Q210P;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.A629C:p.Q210P;	4.87501438835932E-4	0.014
18	12360050	G	A	18	12360051	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon7:c.C628T:p.Q210X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon7:c.C628T:p.Q210X;	0.987146625737559	0.904
18	12360050	G	C	18	12360051	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.C628G:p.Q210E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.C628G:p.Q210E;	0.00266868034671528	0.048
18	12360050	G	T	18	12360051	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon7:c.C628A:p.Q210K;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon7:c.C628A:p.Q210K;	0.00148053185598159	0.02
18	12360051	C	A	18	12360052	y	y	splicing	AFG3L2(NM_006796:exon8:c.628-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.628-1G>T;ENST00000590811:exon5:c.263-1G>T)	.	.	0.999981760802075	0.944
18	12360051	C	G	18	12360052	y	y	splicing	AFG3L2(NM_006796:exon8:c.628-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.628-1G>C;ENST00000590811:exon5:c.263-1G>C)	.	.	0.999981760802075	0.944
18	12360051	C	T	18	12360052	y	y	splicing	AFG3L2(NM_006796:exon8:c.628-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.628-1G>A;ENST00000590811:exon5:c.263-1G>A)	.	.	0.999981760802075	0.944
18	12360052	T	A	18	12360053	y	y	splicing	AFG3L2(NM_006796:exon8:c.628-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.628-2A>T;ENST00000590811:exon5:c.263-2A>T)	.	.	0.999989917668626	0.928
18	12360052	T	C	18	12360053	y	y	splicing	AFG3L2(NM_006796:exon8:c.628-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.628-2A>G;ENST00000590811:exon5:c.263-2A>G)	.	.	0.999989917668626	0.926
18	12360052	T	G	18	12360053	y	y	splicing	AFG3L2(NM_006796:exon8:c.628-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon8:c.628-2A>C;ENST00000590811:exon5:c.263-2A>C)	.	.	0.999989917668626	0.926
18	12360053	A	C	18	12360054	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.997885899863885	0.786
18	12360053	A	G	18	12360054	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.64092857143477E-5	0.0
18	12360053	A	T	18	12360054	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00530527026334359	0.088
18	12360054	T	A	18	12360055	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.06073934494384E-5	0.004
18	12360054	T	C	18	12360055	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.10301084246429E-5	0.008
18	12360054	T	G	18	12360055	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.7589491323973E-5	0.004
18	12360055	A	C	18	12360056	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.66839094788371E-4	0.192
18	12360055	A	G	18	12360056	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.9889828717837E-4	0.034
18	12360055	A	T	18	12360056	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.04775906040406E-4	0.124
18	12360056	A	C	18	12360057	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.129418766342786	0.37
18	12360056	A	G	18	12360057	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00684168342435586	0.154
18	12360056	A	T	18	12360057	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.183592715021433	0.406
18	12360057	A	C	18	12360058	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.54998311472355E-4	0.04
18	12360057	A	G	18	12360058	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.23980338759243E-4	0.0
18	12360057	A	T	18	12360058	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00867103858374762	0.098
18	12360058	A	C	18	12360059	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00183613352864071	0.074
18	12360058	A	G	18	12360059	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.88726940721055E-4	0.012
18	12360058	A	T	18	12360059	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00273436941463812	0.08
18	12360059	A	C	18	12360060	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00154143420220812	0.078
18	12360059	A	G	18	12360060	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.16009980605905E-4	0.068
18	12360059	A	T	18	12360060	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.45439116885388E-4	0.082
18	12360060	C	A	18	12360061	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.92905048349122E-4	0.002
18	12360060	C	G	18	12360061	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.99638382466544E-4	0.0
18	12360060	C	T	18	12360061	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00121281212706935	0.078
18	12360061	A	C	18	12360062	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0121247977653859	0.33
18	12360061	A	G	18	12360062	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00807116391343737	0.082
18	12360061	A	T	18	12360062	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999706398685049	0.852
18	12360062	A	C	18	12360063	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.78505495994926E-4	0.182
18	12360062	A	G	18	12360063	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.96896350244092E-4	0.09
18	12360062	A	T	18	12360063	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.560928901959E-4	0.12
18	12363773	T	A	18	12363774	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00193596314019812	0.01
18	12363773	T	C	18	12363774	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00138460070019225	0.012
18	12363773	T	G	18	12363774	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00186238344717395	0.018
18	12363774	G	A	18	12363775	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.97472641206307E-4	0.014
18	12363774	G	C	18	12363775	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.56800835246875E-5	0.07
18	12363774	G	T	18	12363775	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.42863973527116E-5	0.0
18	12363775	A	C	18	12363776	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.994995020017439	0.782
18	12363775	A	G	18	12363776	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.997272676223373	0.964
18	12363775	A	T	18	12363776	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.997949698242369	0.802
18	12363776	T	A	18	12363777	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.97003896888947E-4	0.108
18	12363776	T	C	18	12363777	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.47627590853411E-4	0.13
18	12363776	T	G	18	12363777	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.98968372689289E-4	0.116
18	12363777	T	A	18	12363778	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999453164977004	0.908
18	12363777	T	C	18	12363778	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999788752617532	0.958
18	12363777	T	G	18	12363778	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999536688758688	0.934
18	12363778	T	A	18	12363779	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999873756663766	0.926
18	12363778	T	C	18	12363779	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999676763186471	0.926
18	12363778	T	G	18	12363779	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.99990324058739	0.962
18	12363779	A	C	18	12363780	y	y	splicing	AFG3L2(NM_006796:exon7:c.627+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.627+2T>G;ENST00000590811:exon4:c.262+2T>G)	.	.	0.999988247793601	0.928
18	12363779	A	G	18	12363780	y	y	splicing	AFG3L2(NM_006796:exon7:c.627+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.627+2T>C;ENST00000590811:exon4:c.262+2T>C)	.	.	0.992054276455321	0.638
18	12363779	A	T	18	12363780	y	y	splicing	AFG3L2(NM_006796:exon7:c.627+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.627+2T>A;ENST00000590811:exon4:c.262+2T>A)	.	.	0.999988247793601	0.928
18	12363780	C	A	18	12363781	y	y	splicing	AFG3L2(NM_006796:exon7:c.627+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.627+1G>T;ENST00000590811:exon4:c.262+1G>T)	.	.	0.999986675681007	0.932
18	12363780	C	G	18	12363781	y	y	splicing	AFG3L2(NM_006796:exon7:c.627+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.627+1G>C;ENST00000590811:exon4:c.262+1G>C)	.	.	0.999986675681007	0.932
18	12363780	C	T	18	12363781	y	y	splicing	AFG3L2(NM_006796:exon7:c.627+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.627+1G>A;ENST00000590811:exon4:c.262+1G>A)	.	.	0.999986675681007	0.932
18	12363781	C	A	18	12363782	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon6:c.G627T:p.G209G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G627T:p.G209G;	0.999984012168407	0.988
18	12363781	C	G	18	12363782	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon6:c.G627C:p.G209G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G627C:p.G209G;	0.999995612305889	1.0
18	12363781	C	T	18	12363782	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon6:c.G627A:p.G209G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G627A:p.G209G;	0.999993326791706	0.998
18	12363782	C	A	18	12363783	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G626T:p.G209V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G626T:p.G209V;	0.989673544996904	0.734
18	12363782	C	G	18	12363783	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G626C:p.G209A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G626C:p.G209A;	0.988760412737843	0.784
18	12363782	C	T	18	12363783	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G626A:p.G209E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G626A:p.G209E;	0.799175808500643	0.406
18	12363783	C	A	18	12363784	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G625T:p.G209W;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G625T:p.G209W;	0.972203258862293	0.77
18	12363783	C	G	18	12363784	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G625C:p.G209R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G625C:p.G209R;	0.932336796307326	0.714
18	12363783	C	T	18	12363784	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G625A:p.G209R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G625A:p.G209R;	0.935140893088135	0.712
18	12363854	A	C	18	12363855	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.T554G:p.V185G;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.T554G:p.V185G;	0.854564478537418	0.42
18	12363854	A	G	18	12363855	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.T554C:p.V185A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.T554C:p.V185A;	0.877510304515529	0.476
18	12363854	A	T	18	12363855	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.T554A:p.V185E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.T554A:p.V185E;	0.881991059474208	0.424
18	12363855	C	A	18	12363856	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G553T:p.V185L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G553T:p.V185L;	0.999942454151975	0.994
18	12363855	C	G	18	12363856	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G553C:p.V185L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G553C:p.V185L;	0.999887885140911	0.994
18	12363855	C	T	18	12363856	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon6:c.G553A:p.V185I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon6:c.G553A:p.V185I;	0.999692440575654	0.972
18	12363856	C	A	18	12363857	y	y	splicing	AFG3L2(NM_006796:exon7:c.553-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.553-1G>T;ENST00000590811:exon4:c.188-1G>T)	.	.	0.999989072007339	0.95
18	12363856	C	G	18	12363857	y	y	splicing	AFG3L2(NM_006796:exon7:c.553-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.553-1G>C;ENST00000590811:exon4:c.188-1G>C)	.	.	0.999989072007339	0.95
18	12363856	C	T	18	12363857	y	y	splicing	AFG3L2(NM_006796:exon7:c.553-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.553-1G>A;ENST00000590811:exon4:c.188-1G>A)	.	.	0.999989072007339	0.95
18	12363857	T	A	18	12363858	y	y	splicing	AFG3L2(NM_006796:exon7:c.553-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.553-2A>T;ENST00000590811:exon4:c.188-2A>T)	.	.	0.999988247793601	0.946
18	12363857	T	C	18	12363858	y	y	splicing	AFG3L2(NM_006796:exon7:c.553-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.553-2A>G;ENST00000590811:exon4:c.188-2A>G)	.	.	0.999988247793601	0.946
18	12363857	T	G	18	12363858	y	y	splicing	AFG3L2(NM_006796:exon7:c.553-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon7:c.553-2A>C;ENST00000590811:exon4:c.188-2A>C)	.	.	0.999988247793601	0.946
18	12363858	A	C	18	12363859	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.99016811545365	0.82
18	12363858	A	G	18	12363859	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.08854380059617E-4	0.028
18	12363858	A	T	18	12363859	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.218198749117156	0.348
18	12363859	G	A	18	12363860	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.27968988354831E-5	0.018
18	12363859	G	C	18	12363860	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.45838487904435E-4	0.006
18	12363859	G	T	18	12363860	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.93517666000777E-4	0.054
18	12363860	A	C	18	12363861	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.992004988922186	0.852
18	12363860	A	G	18	12363861	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0824663539652714	0.28
18	12363860	A	T	18	12363861	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.996507669476092	0.878
18	12363861	A	C	18	12363862	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999935634507206	0.954
18	12363861	A	G	18	12363862	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0123047645910781	0.156
18	12363861	A	T	18	12363862	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.960186511595046	0.766
18	12363862	T	A	18	12363863	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.17807304625323E-5	0.006
18	12363862	T	C	18	12363863	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998179193263668	0.988
18	12363862	T	G	18	12363863	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.76682769626746E-5	0.002
18	12363863	T	A	18	12363864	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.09242666150663E-4	0.006
18	12363863	T	C	18	12363864	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.997769847589686	0.962
18	12363863	T	G	18	12363864	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.15798931445429E-4	0.006
18	12363864	T	A	18	12363865	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.53718543103852E-5	0.036
18	12363864	T	C	18	12363865	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.997127384935134	0.992
18	12363864	T	G	18	12363865	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.30485765595687E-5	0.008
18	12363865	T	A	18	12363866	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.68210221197901E-5	0.0
18	12363865	T	C	18	12363866	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.09156811601564E-4	0.004
18	12363865	T	G	18	12363866	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.56417954890313E-5	0.0
18	12363866	A	C	18	12363867	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.803139840205877	0.692
18	12363866	A	G	18	12363867	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.02579539516079	0.274
18	12363866	A	T	18	12363867	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.934758058504282	0.734
18	12363867	A	C	18	12363868	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0168386749224727	0.31
18	12363867	A	G	18	12363868	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00170928865180686	0.116
18	12363867	A	T	18	12363868	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0168386749224727	0.376
18	12366956	A	C	18	12366957	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.33097154244748E-4	0.014
18	12366956	A	G	18	12366957	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00255212850419114	0.016
18	12366956	A	T	18	12366957	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.697832727345E-4	0.004
18	12366957	T	A	18	12366958	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0507596642266137	0.182
18	12366957	T	C	18	12366958	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.021942833676201	0.152
18	12366957	T	G	18	12366958	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0165879289613241	0.12
18	12366958	A	C	18	12366959	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999042922544086	0.928
18	12366958	A	G	18	12366959	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.993670474826845	0.936
18	12366958	A	T	18	12366959	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.997879550238258	0.784
18	12366959	C	A	18	12366960	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999981093999412	0.978
18	12366959	C	G	18	12366960	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999965000002604	0.99
18	12366959	C	T	18	12366960	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999979992794959	1.0
18	12366960	T	A	18	12366961	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.996523557421496	0.898
18	12366960	T	C	18	12366961	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998970829402643	0.96
18	12366960	T	G	18	12366961	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998764219484323	0.938
18	12366961	T	A	18	12366962	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999868792241425	0.932
18	12366961	T	C	18	12366962	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.369209040178203	0.468
18	12366961	T	G	18	12366962	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999818251546057	0.924
18	12366962	A	C	18	12366963	y	y	splicing	AFG3L2(NM_006796:exon6:c.552+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.552+2T>G;ENST00000590811:exon3:c.187+2T>G)	.	.	0.999988247793601	0.93
18	12366962	A	G	18	12366963	y	y	splicing	AFG3L2(NM_006796:exon6:c.552+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.552+2T>C;ENST00000590811:exon3:c.187+2T>C)	.	.	0.99340600729494	0.672
18	12366962	A	T	18	12366963	y	y	splicing	AFG3L2(NM_006796:exon6:c.552+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.552+2T>A;ENST00000590811:exon3:c.187+2T>A)	.	.	0.999988247793601	0.93
18	12366963	C	A	18	12366964	y	y	splicing	AFG3L2(NM_006796:exon6:c.552+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.552+1G>T;ENST00000590811:exon3:c.187+1G>T)	.	.	0.999990361384395	0.938
18	12366963	C	G	18	12366964	y	y	splicing	AFG3L2(NM_006796:exon6:c.552+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.552+1G>C;ENST00000590811:exon3:c.187+1G>C)	.	.	0.999990361384395	0.938
18	12366963	C	T	18	12366964	y	y	splicing	AFG3L2(NM_006796:exon6:c.552+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.552+1G>A;ENST00000590811:exon3:c.187+1G>A)	.	.	0.999990361384395	0.938
18	12366964	T	A	18	12366965	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon5:c.A552T:p.V184V;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.A552T:p.V184V;	8.4127060361142E-5	0.068
18	12366964	T	C	18	12366965	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon5:c.A552G:p.V184V;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.A552G:p.V184V;	6.13650873856533E-5	0.014
18	12366964	T	G	18	12366965	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon5:c.A552C:p.V184V;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.A552C:p.V184V;	1.3339774310013E-4	0.134
18	12366965	A	C	18	12366966	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.T551G:p.V184G;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.T551G:p.V184G;	0.755532464765969	0.614
18	12366965	A	G	18	12366966	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.T551C:p.V184A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.T551C:p.V184A;	0.703484230338471	0.558
18	12366965	A	T	18	12366966	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.T551A:p.V184E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.T551A:p.V184E;	0.608283915523628	0.494
18	12366966	C	A	18	12366967	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G550T:p.V184L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G550T:p.V184L;	0.00436627116496769	0.122
18	12366966	C	G	18	12366967	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G550C:p.V184L;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G550C:p.V184L;	9.97227096045783E-4	0.034
18	12366966	C	T	18	12366967	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G550A:p.V184I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G550A:p.V184I;	0.947409330881739	0.734
18	12367115	C	A	18	12367116	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G401T:p.G134V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G401T:p.G134V;	0.977731733443374	0.882
18	12367115	C	G	18	12367116	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G401C:p.G134A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G401C:p.G134A;	0.983799882932102	0.774
18	12367115	C	T	18	12367116	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G401A:p.G134D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G401A:p.G134D;	0.987724249055567	0.808
18	12367116	C	A	18	12367117	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G400T:p.G134C;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G400T:p.G134C;	0.999728176469457	0.968
18	12367116	C	G	18	12367117	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G400C:p.G134R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G400C:p.G134R;	0.999811434914873	0.974
18	12367116	C	T	18	12367117	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon5:c.G400A:p.G134S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon5:c.G400A:p.G134S;	0.999388158650286	0.958
18	12367117	C	A	18	12367118	y	y	splicing	AFG3L2(NM_006796:exon6:c.400-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.400-1G>T;ENST00000590811:exon3:c.35-1G>T)	.	.	0.999990361384395	0.938
18	12367117	C	G	18	12367118	y	y	splicing	AFG3L2(NM_006796:exon6:c.400-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.400-1G>C;ENST00000590811:exon3:c.35-1G>C)	.	.	0.999990361384395	0.938
18	12367117	C	T	18	12367118	y	y	splicing	AFG3L2(NM_006796:exon6:c.400-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.400-1G>A;ENST00000590811:exon3:c.35-1G>A)	.	.	0.999990361384395	0.938
18	12367118	T	A	18	12367119	y	y	splicing	AFG3L2(NM_006796:exon6:c.400-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.400-2A>T;ENST00000590811:exon3:c.35-2A>T)	.	.	0.999988247793601	0.93
18	12367118	T	C	18	12367119	y	y	splicing	AFG3L2(NM_006796:exon6:c.400-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.400-2A>G;ENST00000590811:exon3:c.35-2A>G)	.	.	0.999988247793601	0.928
18	12367118	T	G	18	12367119	y	y	splicing	AFG3L2(NM_006796:exon6:c.400-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon6:c.400-2A>C;ENST00000590811:exon3:c.35-2A>C)	.	.	0.999988247793601	0.93
18	12367119	G	A	18	12367120	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.01699669643129E-4	0.044
18	12367119	G	C	18	12367120	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999041069852527	0.92
18	12367119	G	T	18	12367120	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0647227734756372	0.476
18	12367120	G	A	18	12367121	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.49932879891348E-5	0.0
18	12367120	G	C	18	12367121	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.46760195754696E-5	0.0
18	12367120	G	T	18	12367121	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.80381317689587E-5	0.0
18	12367121	G	A	18	12367122	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.91058154597018E-5	0.0
18	12367121	G	C	18	12367122	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00113176919637685	0.07
18	12367121	G	T	18	12367122	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.65591554599481E-4	0.068
18	12367122	C	A	18	12367123	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.42731011122815E-5	0.0
18	12367122	C	G	18	12367123	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.82928824367719E-5	0.006
18	12367122	C	T	18	12367123	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.73319003095097E-5	0.002
18	12367123	A	C	18	12367124	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00416601743348048	0.156
18	12367123	A	G	18	12367124	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.48978697352068E-4	0.008
18	12367123	A	T	18	12367124	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999684053007828	0.988
18	12367124	G	A	18	12367125	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.23100562722244E-4	0.0
18	12367124	G	C	18	12367125	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00130553502573688	0.036
18	12367124	G	T	18	12367125	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00113445885994323	0.06
18	12367125	A	C	18	12367126	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00816992631828055	0.152
18	12367125	A	G	18	12367126	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.1433501273838E-4	0.012
18	12367125	A	T	18	12367126	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00435987653102122	0.114
18	12367126	G	A	18	12367127	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.35062468350736E-5	0.018
18	12367126	G	C	18	12367127	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00189864284817452	0.086
18	12367126	G	T	18	12367127	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.70479272395664E-4	0.08
18	12367127	A	C	18	12367128	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.113933774804681	0.308
18	12367127	A	G	18	12367128	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0235396778182568	0.178
18	12367127	A	T	18	12367128	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0617884002827767	0.396
18	12367128	G	A	18	12367129	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.30533839862584E-5	0.004
18	12367128	G	C	18	12367129	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.96245061322064E-4	0.032
18	12367128	G	T	18	12367129	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.00379559035483E-4	0.05
18	12367267	C	A	18	12367268	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.89573909039947E-4	0.02
18	12367267	C	G	18	12367268	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.93337566032792E-4	0.002
18	12367267	C	T	18	12367268	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.89573909039947E-4	0.008
18	12367268	A	C	18	12367269	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.87646752210032E-4	0.022
18	12367268	A	G	18	12367269	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.61689240404146E-4	0.014
18	12367268	A	T	18	12367269	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00203325180881823	0.064
18	12367269	T	A	18	12367270	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.46403237257481E-5	0.03
18	12367269	T	C	18	12367270	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.44302209906356E-5	0.006
18	12367269	T	G	18	12367270	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.26993613674017E-4	0.05
18	12367270	C	A	18	12367271	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999959763470317	0.884
18	12367270	C	G	18	12367271	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999971133870583	0.912
18	12367270	C	T	18	12367271	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999898521547894	0.816
18	12367271	A	C	18	12367272	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.52382173681264E-5	0.018
18	12367271	A	G	18	12367272	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.3652750079531E-5	0.036
18	12367271	A	T	18	12367272	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.44102067879188E-5	0.016
18	12367272	A	C	18	12367273	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.12403375569337E-5	0.058
18	12367272	A	G	18	12367273	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00132523504866153	0.15
18	12367272	A	T	18	12367273	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.77312389928905E-4	0.044
18	12367273	A	C	18	12367274	y	y	splicing	AFG3L2(NM_006796:exon5:c.399+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.399+2T>G)	.	.	0.999990764389106	0.946
18	12367273	A	G	18	12367274	y	y	splicing	AFG3L2(NM_006796:exon5:c.399+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.399+2T>C)	.	.	0.999923041698277	0.912
18	12367273	A	T	18	12367274	y	y	splicing	AFG3L2(NM_006796:exon5:c.399+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.399+2T>A)	.	.	0.999990764389106	0.946
18	12367274	C	A	18	12367275	y	y	splicing	AFG3L2(NM_006796:exon5:c.399+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.399+1G>T)	.	.	0.999992425382947	0.944
18	12367274	C	G	18	12367275	y	y	splicing	AFG3L2(NM_006796:exon5:c.399+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.399+1G>C)	.	.	0.999992425382947	0.944
18	12367274	C	T	18	12367275	y	y	splicing	AFG3L2(NM_006796:exon5:c.399+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.399+1G>A)	.	.	0.999992425382947	0.944
18	12367275	C	A	18	12367276	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.G399T:p.K133N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.G399T:p.K133N;	0.999990926002519	1.0
18	12367275	C	G	18	12367276	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.G399C:p.K133N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.G399C:p.K133N;	0.999997871388795	1.0
18	12367275	C	T	18	12367276	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon4:c.G399A:p.K133K;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.G399A:p.K133K;	0.999995763934828	1.0
18	12367276	T	A	18	12367277	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A398T:p.K133M;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A398T:p.K133M;	0.999979199657995	0.992
18	12367276	T	C	18	12367277	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A398G:p.K133R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A398G:p.K133R;	0.999981652586064	1.0
18	12367276	T	G	18	12367277	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A398C:p.K133T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A398C:p.K133T;	0.999959896197656	1.0
18	12367277	T	A	18	12367278	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon4:c.A397T:p.K133X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon4:c.A397T:p.K133X;	0.999445541550879	0.916
18	12367277	T	C	18	12367278	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A397G:p.K133E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A397G:p.K133E;	0.939426466270973	0.51
18	12367277	T	G	18	12367278	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A397C:p.K133Q;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A397C:p.K133Q;	0.794348636625908	0.648
18	12367380	T	A	18	12367381	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A294T:p.E98D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A294T:p.E98D;	1.25614283899965E-5	0.0
18	12367380	T	C	18	12367381	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon4:c.A294G:p.E98E;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A294G:p.E98E;	2.37908377792555E-5	0.012
18	12367380	T	G	18	12367381	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A294C:p.E98D;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A294C:p.E98D;	4.77781927336843E-5	0.0
18	12367381	T	A	18	12367382	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A293T:p.E98V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A293T:p.E98V;	0.542956753758685	0.37
18	12367381	T	C	18	12367382	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A293G:p.E98G;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A293G:p.E98G;	0.0157237389175465	0.18
18	12367381	T	G	18	12367382	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon4:c.A293C:p.E98A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon4:c.A293C:p.E98A;	0.201585162548985	0.292
18	12367382	C	A	18	12367383	y	y	splicing	AFG3L2(NM_006796:exon5:c.293-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.293-1G>T)	.	.	0.999953303690318	0.944
18	12367382	C	G	18	12367383	y	y	splicing	AFG3L2(NM_006796:exon5:c.293-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.293-1G>C)	.	.	0.999953303690318	0.944
18	12367382	C	T	18	12367383	y	y	splicing	AFG3L2(NM_006796:exon5:c.293-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.293-1G>A)	.	.	0.999953303690318	0.94
18	12367383	T	A	18	12367384	y	y	splicing	AFG3L2(NM_006796:exon5:c.293-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.293-2A>T)	.	.	0.999943589356991	0.956
18	12367383	T	C	18	12367384	y	y	splicing	AFG3L2(NM_006796:exon5:c.293-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.293-2A>G)	.	.	0.999943589356991	0.954
18	12367383	T	G	18	12367384	y	y	splicing	AFG3L2(NM_006796:exon5:c.293-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon5:c.293-2A>C)	.	.	0.999943589356991	0.954
18	12367384	G	A	18	12367385	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00147618399567691	0.088
18	12367384	G	C	18	12367385	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999055479391901	0.71
18	12367384	G	T	18	12367385	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.96821192577992	0.782
18	12367385	T	A	18	12367386	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.07366548763946E-4	0.024
18	12367385	T	C	18	12367386	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.838942038675329	0.644
18	12367385	T	G	18	12367386	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.14459858883488E-4	0.022
18	12367386	T	A	18	12367387	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.50570721128697E-5	0.042
18	12367386	T	C	18	12367387	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.72687998410215E-4	0.068
18	12367386	T	G	18	12367387	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.18786576440652E-5	0.018
18	12367387	C	A	18	12367388	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.06481237244302E-5	0.008
18	12367387	C	G	18	12367388	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.00684534904205E-5	0.008
18	12367387	C	T	18	12367388	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.32882277677374E-5	0.002
18	12367388	A	C	18	12367389	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.993502191996207	0.828
18	12367388	A	G	18	12367389	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.50078896851933E-4	0.02
18	12367388	A	T	18	12367389	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.993775095876564	0.83
18	12367389	T	A	18	12367390	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.4480316539692E-5	0.0
18	12367389	T	C	18	12367390	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.34297275675938E-5	0.028
18	12367389	T	G	18	12367390	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.62442259027693E-5	0.002
18	12367390	A	C	18	12367391	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.678436572974966	0.776
18	12367390	A	G	18	12367391	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.8412147659919E-4	0.04
18	12367390	A	T	18	12367391	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.344113069444005	0.67
18	12367391	A	C	18	12367392	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0387051352650365	0.49
18	12367391	A	G	18	12367392	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.64111247894144E-4	0.122
18	12367391	A	T	18	12367392	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.421212165109072	0.548
18	12367392	A	C	18	12367393	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.444226818492158	0.618
18	12367392	A	G	18	12367393	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0613631604491856	0.314
18	12367392	A	T	18	12367393	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.594440500621295	0.7
18	12367393	C	A	18	12367394	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.49471964514012E-5	0.044
18	12367393	C	G	18	12367394	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	6.87538973592049E-5	0.032
18	12367393	C	T	18	12367394	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.22871377411694E-4	0.076
18	12370840	A	C	18	12370841	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.95525310902781E-5	0.0
18	12370840	A	G	18	12370841	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.29647561128585E-5	0.0
18	12370840	A	T	18	12370841	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.14336172846637E-4	0.0
18	12370841	A	C	18	12370842	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.46393437237904E-5	0.0
18	12370841	A	G	18	12370842	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.66819877842074E-4	0.0
18	12370841	A	T	18	12370842	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.94370010422614E-4	0.004
18	12370842	A	C	18	12370843	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.32093213449337E-4	0.27
18	12370842	A	G	18	12370843	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00211653206248956	0.302
18	12370842	A	T	18	12370843	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.6725782970643E-4	0.208
18	12370843	G	A	18	12370844	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.29441248288234E-5	0.0
18	12370843	G	C	18	12370844	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.09947067814646E-5	0.022
18	12370843	G	T	18	12370844	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.19611497130425E-5	0.008
18	12370844	G	A	18	12370845	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00162102640193345	0.044
18	12370844	G	C	18	12370845	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.81584206977351E-4	0.052
18	12370844	G	T	18	12370845	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.78452689183566E-4	0.108
18	12370845	T	A	18	12370846	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999789448547755	0.952
18	12370845	T	C	18	12370846	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.994161285539753	0.9
18	12370845	T	G	18	12370846	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999825196622963	0.976
18	12370846	A	C	18	12370847	y	y	splicing	AFG3L2(NM_006796:exon4:c.292+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.292+2T>G)	.	.	0.999988247793601	0.926
18	12370846	A	G	18	12370847	y	y	splicing	AFG3L2(NM_006796:exon4:c.292+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.292+2T>C)	.	.	0.988163425542712	0.642
18	12370846	A	T	18	12370847	y	y	splicing	AFG3L2(NM_006796:exon4:c.292+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.292+2T>A)	.	.	0.999988247793601	0.926
18	12370847	C	A	18	12370848	y	y	splicing	AFG3L2(NM_006796:exon4:c.292+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.292+1G>T)	.	.	0.999985532734767	0.934
18	12370847	C	G	18	12370848	y	y	splicing	AFG3L2(NM_006796:exon4:c.292+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.292+1G>C)	.	.	0.999985532734767	0.934
18	12370847	C	T	18	12370848	y	y	splicing	AFG3L2(NM_006796:exon4:c.292+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.292+1G>A)	.	.	0.999985532734767	0.934
18	12370848	C	A	18	12370849	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon3:c.G292T:p.E98X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon3:c.G292T:p.E98X;	0.99993439345277	0.934
18	12370848	C	G	18	12370849	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.G292C:p.E98Q;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.G292C:p.E98Q;	0.999989067000976	0.982
18	12370848	C	T	18	12370849	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.G292A:p.E98K;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.G292A:p.E98K;	0.999995436450352	1.0
18	12370849	T	A	18	12370850	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.A291T:p.K97N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A291T:p.K97N;	0.999183554094001	0.996
18	12370849	T	C	18	12370850	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon3:c.A291G:p.K97K;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A291G:p.K97K;	0.998545077108843	0.986
18	12370849	T	G	18	12370850	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.A291C:p.K97N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A291C:p.K97N;	0.99869219472823	0.982
18	12370850	T	A	18	12370851	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.A290T:p.K97I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A290T:p.K97I;	0.996710705152724	0.722
18	12370850	T	C	18	12370851	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.A290G:p.K97R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A290G:p.K97R;	0.190811120702228	0.418
18	12370850	T	G	18	12370851	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.A290C:p.K97T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A290C:p.K97T;	0.195643032415573	0.564
18	12370924	T	A	18	12370925	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon3:c.A216T:p.G72G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A216T:p.G72G;	8.82799612507846E-5	0.002
18	12370924	T	C	18	12370925	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon3:c.A216G:p.G72G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A216G:p.G72G;	6.18730037281358E-4	0.028
18	12370924	T	G	18	12370925	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon3:c.A216C:p.G72G;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.A216C:p.G72G;	0.00193000918232502	0.038
18	12370925	C	A	18	12370926	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.G215T:p.G72V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.G215T:p.G72V;	0.999603472366363	0.984
18	12370925	C	G	18	12370926	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.G215C:p.G72A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.G215C:p.G72A;	0.999532914503085	0.98
18	12370925	C	T	18	12370926	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon3:c.G215A:p.G72E;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon3:c.G215A:p.G72E;	0.997646538201151	0.906
18	12370926	C	A	18	12370927	y	y	splicing	AFG3L2(NM_006796:exon4:c.215-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.215-1G>T)	.	.	0.999985532734767	0.936
18	12370926	C	G	18	12370927	y	y	splicing	AFG3L2(NM_006796:exon4:c.215-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.215-1G>C)	.	.	0.999985532734767	0.934
18	12370926	C	T	18	12370927	y	y	splicing	AFG3L2(NM_006796:exon4:c.215-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.215-1G>A)	.	.	0.999985532734767	0.936
18	12370927	T	A	18	12370928	y	y	splicing	AFG3L2(NM_006796:exon4:c.215-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.215-2A>T)	.	.	0.999988247793601	0.926
18	12370927	T	C	18	12370928	y	y	splicing	AFG3L2(NM_006796:exon4:c.215-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.215-2A>G)	.	.	0.999988247793601	0.926
18	12370927	T	G	18	12370928	y	y	splicing	AFG3L2(NM_006796:exon4:c.215-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon4:c.215-2A>C)	.	.	0.999988247793601	0.926
18	12370928	G	A	18	12370929	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.88694065830509E-4	0.066
18	12370928	G	C	18	12370929	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.99871843438966	0.85
18	12370928	G	T	18	12370929	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.622477594457342	0.514
18	12370929	T	A	18	12370930	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0115771567195834	0.13
18	12370929	T	C	18	12370930	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.945785949060386	0.524
18	12370929	T	G	18	12370930	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00467248017824064	0.046
18	12370930	T	A	18	12370931	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00148269364178904	0.02
18	12370930	T	C	18	12370931	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0103563699620391	0.066
18	12370930	T	G	18	12370931	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00225117707137842	0.016
18	12370931	A	C	18	12370932	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00463484415957796	0.088
18	12370931	A	G	18	12370932	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.57456828304898E-4	0.024
18	12370931	A	T	18	12370932	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00607157018512486	0.1
18	12370932	G	A	18	12370933	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.56704733211545E-5	0.0
18	12370932	G	C	18	12370933	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.12079382312556E-4	0.052
18	12370932	G	T	18	12370933	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00168010497686443	0.112
18	12370933	A	C	18	12370934	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00128906644976156	0.072
18	12370933	A	G	18	12370934	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.87073731016012E-5	0.0
18	12370933	A	T	18	12370934	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0016910252966526	0.068
18	12370934	A	C	18	12370935	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0205218422306774	0.224
18	12370934	A	G	18	12370935	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00457922296525979	0.084
18	12370934	A	T	18	12370935	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0300539050187844	0.27
18	12370935	A	C	18	12370936	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00210890215391832	0.144
18	12370935	A	G	18	12370936	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.56200780792573E-4	0.016
18	12370935	A	T	18	12370936	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00290798706481224	0.17
18	12370936	A	C	18	12370937	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00635334279832867	0.346
18	12370936	A	G	18	12370937	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00295333267165377	0.092
18	12370936	A	T	18	12370937	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0352833750051731	0.378
18	12370937	A	C	18	12370938	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.58745570045762E-4	0.03
18	12370937	A	G	18	12370938	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.35248099003991E-5	0.0
18	12370937	A	T	18	12370938	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.44676146976313E-4	0.066
18	12371583	G	A	18	12371584	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.88099361121379E-5	0.0
18	12371583	G	C	18	12371584	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.36186369121645E-5	0.004
18	12371583	G	T	18	12371584	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.36186369121645E-5	0.002
18	12371584	C	A	18	12371585	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.18111881468629E-4	0.0
18	12371584	C	G	18	12371585	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.66319213704038E-5	0.0
18	12371584	C	T	18	12371585	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.66319213704038E-5	0.0
18	12371585	A	C	18	12371586	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.00052623952811E-4	0.06
18	12371585	A	G	18	12371586	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00198892338616853	0.074
18	12371585	A	T	18	12371586	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00290546621209625	0.088
18	12371586	T	A	18	12371587	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.26307987499881E-5	0.034
18	12371586	T	C	18	12371587	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.84208896341103E-5	0.046
18	12371586	T	G	18	12371587	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.40519381460656E-5	0.072
18	12371587	T	A	18	12371588	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.601322843902928	0.352
18	12371587	T	C	18	12371588	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.471105980562216	0.376
18	12371587	T	G	18	12371588	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.285873050747268	0.354
18	12371588	T	A	18	12371589	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998145983266476	0.868
18	12371588	T	C	18	12371589	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.818662054412001	0.704
18	12371588	T	G	18	12371589	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.997635069729726	0.852
18	12371589	A	C	18	12371590	y	y	splicing	AFG3L2(NM_006796:exon3:c.214+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.214+2T>G)	.	.	0.999988247793601	0.926
18	12371589	A	G	18	12371590	y	y	splicing	AFG3L2(NM_006796:exon3:c.214+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.214+2T>C)	.	.	0.98918007292081	0.626
18	12371589	A	T	18	12371590	y	y	splicing	AFG3L2(NM_006796:exon3:c.214+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.214+2T>A)	.	.	0.999988247793601	0.926
18	12371590	C	A	18	12371591	y	y	splicing	AFG3L2(NM_006796:exon3:c.214+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.214+1G>T)	.	.	0.999985532734767	0.936
18	12371590	C	G	18	12371591	y	y	splicing	AFG3L2(NM_006796:exon3:c.214+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.214+1G>C)	.	.	0.999985532734767	0.928
18	12371590	C	T	18	12371591	y	y	splicing	AFG3L2(NM_006796:exon3:c.214+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.214+1G>A)	.	.	0.999985532734767	0.936
18	12371591	C	A	18	12371592	y	y	exonic	AFG3L2	stopgain SNV	AFG3L2:NM_006796:exon2:c.G214T:p.G72X;	exonic	ENSG00000141385	stopgain SNV	ENSG00000141385:ENST00000269143:exon2:c.G214T:p.G72X;	0.999968630901221	0.976
18	12371591	C	G	18	12371592	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.G214C:p.G72R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.G214C:p.G72R;	0.999996212825511	0.994
18	12371591	C	T	18	12371592	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.G214A:p.G72R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.G214A:p.G72R;	0.99994876150242	0.992
18	12371592	T	A	18	12371593	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.A213T:p.K71N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.A213T:p.K71N;	0.999103898018534	0.942
18	12371592	T	C	18	12371593	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon2:c.A213G:p.K71K;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.A213G:p.K71K;	0.985457472359385	0.846
18	12371592	T	G	18	12371593	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.A213C:p.K71N;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.A213C:p.K71N;	0.995768284011088	0.9
18	12371593	T	A	18	12371594	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.A212T:p.K71I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.A212T:p.K71I;	0.333716587793547	0.472
18	12371593	T	C	18	12371594	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.A212G:p.K71R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.A212G:p.K71R;	0.00228338046245169	0.054
18	12371593	T	G	18	12371594	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.A212C:p.K71T;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.A212C:p.K71T;	0.0203111452771013	0.184
18	12371689	A	C	18	12371690	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.T116G:p.L39R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.T116G:p.L39R;	0.00412731469222755	0.128
18	12371689	A	G	18	12371690	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.T116C:p.L39P;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.T116C:p.L39P;	0.00639844382125683	0.148
18	12371689	A	T	18	12371690	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.T116A:p.L39H;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.T116A:p.L39H;	0.0097939801558466	0.132
18	12371690	G	A	18	12371691	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.C115T:p.L39F;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.C115T:p.L39F;	0.0018458479199506	0.164
18	12371690	G	C	18	12371691	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.C115G:p.L39V;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.C115G:p.L39V;	5.03136403228248E-4	0.178
18	12371690	G	T	18	12371691	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon2:c.C115A:p.L39I;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon2:c.C115A:p.L39I;	4.00790516718756E-4	0.004
18	12371691	C	A	18	12371692	y	y	splicing	AFG3L2(NM_006796:exon3:c.115-1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.115-1G>T)	.	.	0.999954401362567	0.85
18	12371691	C	G	18	12371692	y	y	splicing	AFG3L2(NM_006796:exon3:c.115-1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.115-1G>C)	.	.	0.999954401362567	0.818
18	12371691	C	T	18	12371692	y	y	splicing	AFG3L2(NM_006796:exon3:c.115-1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.115-1G>A)	.	.	0.999962716029817	0.862
18	12371692	T	A	18	12371693	y	y	splicing	AFG3L2(NM_006796:exon3:c.115-2A>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.115-2A>T)	.	.	0.999962958601995	0.838
18	12371692	T	C	18	12371693	y	y	splicing	AFG3L2(NM_006796:exon3:c.115-2A>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.115-2A>G)	.	.	0.999962958601995	0.8
18	12371692	T	G	18	12371693	y	y	splicing	AFG3L2(NM_006796:exon3:c.115-2A>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon3:c.115-2A>C)	.	.	0.999962958601995	0.8
18	12371693	G	A	18	12371694	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00828526424423958	0.262
18	12371693	G	C	18	12371694	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999635891700801	0.918
18	12371693	G	T	18	12371694	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.732502096296159	0.644
18	12371694	C	A	18	12371695	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.36342299515395E-5	0.0
18	12371694	C	G	18	12371695	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	7.27794112153451E-6	0.012
18	12371694	C	T	18	12371695	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.65565263266296E-5	0.0
18	12371695	A	C	18	12371696	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.382756779320502	0.422
18	12371695	A	G	18	12371696	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00674008372508363	0.178
18	12371695	A	T	18	12371696	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999738344550873	0.914
18	12371696	A	C	18	12371697	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.220888802196735	0.426
18	12371696	A	G	18	12371697	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.2405212691546E-4	0.096
18	12371696	A	T	18	12371697	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.181919860028472	0.462
18	12371697	C	A	18	12371698	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.58669079372979E-5	0.0
18	12371697	C	G	18	12371698	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.58669079372979E-5	0.0
18	12371697	C	T	18	12371698	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.07252817105893E-5	0.002
18	12371698	A	C	18	12371699	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0347107960150297	0.322
18	12371698	A	G	18	12371699	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.75567268264222E-4	0.004
18	12371698	A	T	18	12371699	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999697096615288	0.978
18	12371699	A	C	18	12371700	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0115795835988965	0.216
18	12371699	A	G	18	12371700	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.86829542928204E-4	0.034
18	12371699	A	T	18	12371700	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	5.49821012421675E-4	0.1
18	12371700	G	A	18	12371701	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	2.35082844333272E-5	0.0
18	12371700	G	C	18	12371701	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	3.30370975657298E-4	0.016
18	12371700	G	T	18	12371701	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	4.5303031792327E-4	0.028
18	12371701	A	C	18	12371702	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.069066543070936	0.304
18	12371701	A	G	18	12371702	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.26046259000592E-4	0.006
18	12371701	A	T	18	12371702	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.254247802632232	0.296
18	12371702	C	A	18	12371703	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	9.64205233329305E-4	0.024
18	12371702	C	G	18	12371703	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	8.38058746602809E-4	0.018
18	12371702	C	T	18	12371703	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00256104631230561	0.07
18	12376960	G	A	18	12376961	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.66105672172777E-4	0.004
18	12376960	G	C	18	12376961	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.31689040315111E-4	0.01
18	12376960	G	T	18	12376961	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	1.31689040315111E-4	0.004
18	12376961	G	A	18	12376962	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.010034031374501	0.084
18	12376961	G	C	18	12376962	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.0073899168996489	0.054
18	12376961	G	T	18	12376962	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00939757254004931	0.046
18	12376962	A	C	18	12376963	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.967211434432055	0.56
18	12376962	A	G	18	12376963	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.859319998539648	0.576
18	12376962	A	T	18	12376963	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.953168670737127	0.668
18	12376963	C	A	18	12376964	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998279442027996	0.87
18	12376963	C	G	18	12376964	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.999543822506415	0.986
18	12376963	C	T	18	12376964	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.99967204425813	0.988
18	12376964	T	A	18	12376965	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.998293505318991	0.878
18	12376964	T	C	18	12376965	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.995731982645166	0.824
18	12376964	T	G	18	12376965	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.971190481083986	0.722
18	12376965	C	A	18	12376966	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.902956398340261	0.692
18	12376965	C	G	18	12376966	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.978565338264213	0.79
18	12376965	C	T	18	12376966	y	y	intronic	AFG3L2	.	.	intronic	ENSG00000141385	.	.	0.00283226258204572	0.078
18	12376966	A	C	18	12376967	y	y	splicing	AFG3L2(NM_006796:exon2:c.114+2T>G)	.	.	splicing	ENSG00000141385(ENST00000269143:exon2:c.114+2T>G;ENST00000590811:exon2:c.34+2T>G)	.	.	0.999993672935256	0.926
18	12376966	A	G	18	12376967	y	y	splicing	AFG3L2(NM_006796:exon2:c.114+2T>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon2:c.114+2T>C;ENST00000590811:exon2:c.34+2T>C)	.	.	0.999959541454763	0.85
18	12376966	A	T	18	12376967	y	y	splicing	AFG3L2(NM_006796:exon2:c.114+2T>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon2:c.114+2T>A;ENST00000590811:exon2:c.34+2T>A)	.	.	0.999993672935256	0.926
18	12376967	C	A	18	12376968	y	y	splicing	AFG3L2(NM_006796:exon2:c.114+1G>T)	.	.	splicing	ENSG00000141385(ENST00000269143:exon2:c.114+1G>T;ENST00000590811:exon2:c.34+1G>T)	.	.	0.999993672935256	0.926
18	12376967	C	G	18	12376968	y	y	splicing	AFG3L2(NM_006796:exon2:c.114+1G>C)	.	.	splicing	ENSG00000141385(ENST00000269143:exon2:c.114+1G>C;ENST00000590811:exon2:c.34+1G>C)	.	.	0.999993672935256	0.926
18	12376967	C	T	18	12376968	y	y	splicing	AFG3L2(NM_006796:exon2:c.114+1G>A)	.	.	splicing	ENSG00000141385(ENST00000269143:exon2:c.114+1G>A;ENST00000590811:exon2:c.34+1G>A)	.	.	0.999993672935256	0.926
18	12376968	C	A	18	12376969	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon1:c.G114T:p.T38T;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.G114T:p.T38T;	0.999528274530213	0.914
18	12376968	C	G	18	12376969	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon1:c.G114C:p.T38T;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.G114C:p.T38T;	0.999469512465308	0.924
18	12376968	C	T	18	12376969	y	y	exonic	AFG3L2	synonymous SNV	AFG3L2:NM_006796:exon1:c.G114A:p.T38T;	exonic	ENSG00000141385	synonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.G114A:p.T38T;	0.999739122210088	0.964
18	12376969	G	A	18	12376970	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon1:c.C113T:p.T38M;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.C113T:p.T38M;	4.0202560689896E-4	0.062
18	12376969	G	C	18	12376970	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon1:c.C113G:p.T38R;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.C113G:p.T38R;	6.30975058814653E-4	0.044
18	12376969	G	T	18	12376970	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon1:c.C113A:p.T38K;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.C113A:p.T38K;	1.36960654810627E-4	0.128
18	12376970	T	A	18	12376971	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon1:c.A112T:p.T38S;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.A112T:p.T38S;	3.98847744704813E-4	0.072
18	12376970	T	C	18	12376971	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon1:c.A112G:p.T38A;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.A112G:p.T38A;	1.89756103396182E-4	0.006
18	12376970	T	G	18	12376971	y	y	exonic	AFG3L2	nonsynonymous SNV	AFG3L2:NM_006796:exon1:c.A112C:p.T38P;	exonic	ENSG00000141385	nonsynonymous SNV	ENSG00000141385:ENST00000269143:exon1:c.A112C:p.T38P;	8.96475633555317E-4	0.018
18	12408004	T	A	18	12408005	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon1:c.T30A:p.F10L;SLMO1:NM_006553:exon1:c.T30A:p.F10L;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.T30A:p.F10L;ENSG00000141391:ENST00000588729:exon1:c.T30A:p.F10L;ENSG00000141391:ENST00000440960:exon1:c.T30A:p.F10L;	1.45842355692594E-4	0.03
18	12408004	T	C	18	12408005	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon1:c.T30C:p.F10F;SLMO1:NM_006553:exon1:c.T30C:p.F10F;	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.T30C:p.F10F;ENSG00000141391:ENST00000588729:exon1:c.T30C:p.F10F;ENSG00000141391:ENST00000440960:exon1:c.T30C:p.F10F;	2.8899178111039E-5	0.004
18	12408004	T	G	18	12408005	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon1:c.T30G:p.F10L;SLMO1:NM_006553:exon1:c.T30G:p.F10L;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.T30G:p.F10L;ENSG00000141391:ENST00000588729:exon1:c.T30G:p.F10L;ENSG00000141391:ENST00000440960:exon1:c.T30G:p.F10L;	9.93198217084595E-4	0.12
18	12408005	G	A	18	12408006	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon1:c.G31A:p.G11S;SLMO1:NM_006553:exon1:c.G31A:p.G11S;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.G31A:p.G11S;ENSG00000141391:ENST00000588729:exon1:c.G31A:p.G11R;ENSG00000141391:ENST00000440960:exon1:c.G31A:p.G11S;	0.00350374146862249	0.108
18	12408005	G	C	18	12408006	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon1:c.G31C:p.G11R;SLMO1:NM_006553:exon1:c.G31C:p.G11R;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.G31C:p.G11R;ENSG00000141391:ENST00000588729:exon1:c.G31C:p.G11R;ENSG00000141391:ENST00000440960:exon1:c.G31C:p.G11R;	0.137214396671151	0.436
18	12408005	G	T	18	12408006	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon1:c.G31T:p.G11C;SLMO1:NM_006553:exon1:c.G31T:p.G11C;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.G31T:p.G11C;ENSG00000141391:ENST00000588729:exon1:c.G31T:p.G11W;ENSG00000141391:ENST00000440960:exon1:c.G31T:p.G11C;	0.0294153835201573	0.158
18	12408006	G	A	18	12408007	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon1:c.G32A:p.G11D;SLMO1:NM_006553:exon1:c.G32A:p.G11D;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.G32A:p.G11D;ENSG00000141391:ENST00000588729:exon1:c.G32A:p.G11E;ENSG00000141391:ENST00000440960:exon1:c.G32A:p.G11D;	0.996773263974665	0.902
18	12408006	G	C	18	12408007	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon1:c.G32C:p.G11A;SLMO1:NM_006553:exon1:c.G32C:p.G11A;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.G32C:p.G11A;ENSG00000141391:ENST00000588729:exon1:c.G32C:p.G11A;ENSG00000141391:ENST00000440960:exon1:c.G32C:p.G11A;	0.999217116961425	0.892
18	12408006	G	T	18	12408007	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon1:c.G32T:p.G11V;SLMO1:NM_006553:exon1:c.G32T:p.G11V;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon1:c.G32T:p.G11V;ENSG00000141391:ENST00000588729:exon1:c.G32T:p.G11V;ENSG00000141391:ENST00000440960:exon1:c.G32T:p.G11V;	0.999443997627768	0.918
18	12408007	G	A	18	12408008	y	y	splicing	SLMO1(NM_006553:exon1:c.32+1G>A;NM_001142405:exon1:c.32+1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon1:c.32+1G>A;ENST00000336990:exon1:c.32+1G>A;ENST00000588729:exon1:c.32+1G>A)	.	.	0.999992622308146	0.908
18	12408007	G	C	18	12408008	y	y	splicing	SLMO1(NM_006553:exon1:c.32+1G>C;NM_001142405:exon1:c.32+1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon1:c.32+1G>C;ENST00000336990:exon1:c.32+1G>C;ENST00000588729:exon1:c.32+1G>C)	.	.	0.999988785990237	0.904
18	12408007	G	T	18	12408008	y	y	splicing	SLMO1(NM_006553:exon1:c.32+1G>T;NM_001142405:exon1:c.32+1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon1:c.32+1G>T;ENST00000336990:exon1:c.32+1G>T;ENST00000588729:exon1:c.32+1G>T)	.	.	0.999992622308146	0.908
18	12408008	T	A	18	12408009	y	y	splicing	SLMO1(NM_006553:exon1:c.32+2T>A;NM_001142405:exon1:c.32+2T>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon1:c.32+2T>A;ENST00000336990:exon1:c.32+2T>A;ENST00000588729:exon1:c.32+2T>A)	.	.	0.999992622308146	0.91
18	12408008	T	C	18	12408009	y	y	splicing	SLMO1(NM_006553:exon1:c.32+2T>C;NM_001142405:exon1:c.32+2T>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon1:c.32+2T>C;ENST00000336990:exon1:c.32+2T>C;ENST00000588729:exon1:c.32+2T>C)	.	.	0.999994832713401	0.92
18	12408008	T	G	18	12408009	y	y	splicing	SLMO1(NM_006553:exon1:c.32+2T>G;NM_001142405:exon1:c.32+2T>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon1:c.32+2T>G;ENST00000336990:exon1:c.32+2T>G;ENST00000588729:exon1:c.32+2T>G)	.	.	0.999992622308146	0.904
18	12408009	G	A	18	12408010	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00229478818347973	0.058
18	12408009	G	C	18	12408010	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.996762705137591	0.728
18	12408009	G	T	18	12408010	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.99836112863244	0.744
18	12408010	A	C	18	12408011	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.996765203225334	0.78
18	12408010	A	G	18	12408011	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.998997485774781	0.884
18	12408010	A	T	18	12408011	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999743124803832	0.904
18	12408011	G	A	18	12408012	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999978483840197	0.994
18	12408011	G	C	18	12408012	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999985973329881	0.996
18	12408011	G	T	18	12408012	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999980406371721	0.988
18	12408012	G	A	18	12408013	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.33165817169948E-5	0.014
18	12408012	G	C	18	12408013	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.87103811725128E-5	0.068
18	12408012	G	T	18	12408013	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	5.47254085554397E-5	0.02
18	12408013	C	A	18	12408014	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.29313367147644E-5	0.004
18	12408013	C	G	18	12408014	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.03016397252789E-5	0.018
18	12408013	C	T	18	12408014	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.07271581585652E-4	0.024
18	12408014	C	A	18	12408015	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.59567807909157E-4	0.034
18	12408014	C	G	18	12408015	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.80505990458271E-4	0.154
18	12408014	C	T	18	12408015	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	8.69738457693996E-4	0.024
18	12410705	C	A	18	12410706	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.46004206284423E-5	0.0
18	12410705	C	G	18	12410706	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.46004206284423E-5	0.0
18	12410705	C	T	18	12410706	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.46004206284423E-5	0.0
18	12410706	T	A	18	12410707	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12410706	T	C	18	12410707	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12410706	T	G	18	12410707	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12410707	T	A	18	12410708	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.2694790039333E-6	0.01
18	12410707	T	C	18	12410708	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.2694790039333E-6	0.002
18	12410707	T	G	18	12410708	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.2694790039333E-6	0.002
18	12410708	T	A	18	12410709	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12410708	T	C	18	12410709	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12410708	T	G	18	12410709	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12410709	T	A	18	12410710	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7625743089426E-5	0.016
18	12410709	T	C	18	12410710	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7625743089426E-5	0.016
18	12410709	T	G	18	12410710	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7625743089426E-5	0.016
18	12410710	T	A	18	12410711	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7625743089426E-5	0.016
18	12410710	T	C	18	12410711	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7625743089426E-5	0.016
18	12410710	T	G	18	12410711	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7625743089426E-5	0.016
18	12410711	T	A	18	12410712	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.89552819446206E-5	0.002
18	12410711	T	C	18	12410712	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.22715807398031E-5	0.002
18	12410711	T	G	18	12410712	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.22715807398031E-5	0.002
18	12410712	T	A	18	12410713	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.89552819446206E-5	0.002
18	12410712	T	C	18	12410713	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.22715807398031E-5	0.002
18	12410712	T	G	18	12410713	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.22715807398031E-5	0.002
18	12410713	T	A	18	12410714	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.89552819446206E-5	0.002
18	12410713	T	C	18	12410714	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.89552819446206E-5	0.002
18	12410713	T	G	18	12410714	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.89552819446206E-5	0.002
18	12410714	G	A	18	12410715	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.92559286361592E-5	0.018
18	12410714	G	C	18	12410715	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.92559286361592E-5	0.016
18	12410714	G	T	18	12410715	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.92559286361592E-5	0.016
18	12410715	A	C	18	12410716	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.33-2A>C)	.	.	1.89552819446206E-5	0.002
18	12410715	A	G	18	12410716	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.33-2A>G)	.	.	1.89552819446206E-5	0.004
18	12410715	A	T	18	12410716	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.33-2A>T)	.	.	1.89552819446206E-5	0.002
18	12410716	G	A	18	12410717	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.33-1G>A)	.	.	2.45277156108894E-5	0.0
18	12410716	G	C	18	12410717	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.33-1G>C)	.	.	2.45277156108894E-5	0.0
18	12410716	G	T	18	12410717	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.33-1G>T)	.	.	2.45277156108894E-5	0.0
18	12410717	G	A	18	12410718	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.G33A:p.G11G;	4.92559286361592E-5	0.018
18	12410717	G	C	18	12410718	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.G33C:p.G11G;	4.92559286361592E-5	0.016
18	12410717	G	T	18	12410718	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.G33T:p.G11G;	4.92559286361592E-5	0.016
18	12410718	C	A	18	12410719	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.C34A:p.Q12K;	4.92559286361592E-5	0.016
18	12410718	C	G	18	12410719	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.C34G:p.Q12E;	4.92559286361592E-5	0.016
18	12410718	C	T	18	12410719	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	stopgain SNV	ENSG00000141391:ENST00000588729:exon2:c.C34T:p.Q12X;	4.92559286361592E-5	0.018
18	12410855	C	A	18	12410856	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.C171A:p.A57A;	1.12288223045236E-5	0.0
18	12410855	C	G	18	12410856	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.C171G:p.A57A;	1.12288223045236E-5	0.02
18	12410855	C	T	18	12410856	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.C171T:p.A57A;	1.12288223045236E-5	0.0
18	12410856	T	A	18	12410857	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.T172A:p.C58S;	3.40568607231303E-5	0.0
18	12410856	T	C	18	12410857	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.T172C:p.C58R;	3.40568607231303E-5	0.0
18	12410856	T	G	18	12410857	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.T172G:p.C58G;	3.40568607231303E-5	0.0
18	12410857	G	A	18	12410858	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.G173A:p.C58Y;	3.32651317629065E-5	0.016
18	12410857	G	C	18	12410858	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.G173C:p.C58S;	3.32651317629065E-5	0.014
18	12410857	G	T	18	12410858	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon2:c.G173T:p.C58F;	3.32651317629065E-5	0.014
18	12410858	G	A	18	12410859	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.173+1G>A)	.	.	1.12288223045236E-5	0.0
18	12410858	G	C	18	12410859	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.173+1G>C)	.	.	1.12288223045236E-5	0.0
18	12410858	G	T	18	12410859	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.173+1G>T)	.	.	1.12288223045236E-5	0.0
18	12410859	T	A	18	12410860	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.173+2T>A)	.	.	4.62829891511816E-5	0.006
18	12410859	T	C	18	12410860	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.173+2T>C)	.	.	6.18905158676629E-5	0.02
18	12410859	T	G	18	12410860	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000588729:exon2:c.173+2T>G)	.	.	6.18905158676629E-5	0.022
18	12410860	G	A	18	12410861	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.89582339735063E-5	0.02
18	12410860	G	C	18	12410861	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.32651317629065E-5	0.014
18	12410860	G	T	18	12410861	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.32651317629065E-5	0.018
18	12410861	A	C	18	12410862	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.18905158676629E-5	0.152
18	12410861	A	G	18	12410862	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.18905158676629E-5	0.078
18	12410861	A	T	18	12410862	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.62829891511816E-5	0.002
18	12410862	A	C	18	12410863	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.62829891511816E-5	0.024
18	12410862	A	G	18	12410863	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.18905158676629E-5	0.094
18	12410862	A	T	18	12410863	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.62829891511816E-5	0.002
18	12410863	T	A	18	12410864	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.15042193520174E-5	0.006
18	12410863	T	C	18	12410864	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.15042193520174E-5	0.008
18	12410863	T	G	18	12410864	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.15042193520174E-5	0.006
18	12410864	T	A	18	12410865	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7395485643605E-5	0.122
18	12410864	T	C	18	12410865	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12410864	T	G	18	12410865	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12410865	T	A	18	12410866	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7395485643605E-5	0.044
18	12410865	T	C	18	12410866	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12410865	T	G	18	12410866	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12419944	C	A	18	12419945	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419944	C	G	18	12419945	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419944	C	T	18	12419945	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419945	A	C	18	12419946	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.008
18	12419945	A	G	18	12419946	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.9149404486172E-5	0.006
18	12419945	A	T	18	12419946	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12419946	G	A	18	12419947	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419946	G	C	18	12419947	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419946	G	T	18	12419947	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419947	G	A	18	12419948	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391	.	.	2.83935518155002E-5	0.0
18	12419947	G	C	18	12419948	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419947	G	T	18	12419948	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419948	T	A	18	12419949	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391	.	.	6.7395485643605E-5	0.008
18	12419948	T	C	18	12419949	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391	.	.	6.7395485643605E-5	0.008
18	12419948	T	G	18	12419949	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12419949	T	A	18	12419950	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.46619449921589E-5	0.0
18	12419949	T	C	18	12419950	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.46619449921589E-5	0.016
18	12419949	T	G	18	12419950	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.46619449921589E-5	0.034
18	12419950	T	A	18	12419951	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.01
18	12419950	T	C	18	12419951	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12419950	T	G	18	12419951	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12419951	G	A	18	12419952	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.83935518155002E-5	0.004
18	12419951	G	C	18	12419952	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.63141535133926E-5	0.0
18	12419951	G	T	18	12419952	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.83935518155002E-5	0.0
18	12419952	G	A	18	12419953	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.008
18	12419952	G	C	18	12419953	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.83935518155002E-5	0.0
18	12419952	G	T	18	12419953	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.83935518155002E-5	0.004
18	12419953	T	A	18	12419954	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.03997877173435E-5	0.0
18	12419953	T	C	18	12419954	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.01
18	12419953	T	G	18	12419954	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.01
18	12419954	G	A	18	12419955	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12419954	G	C	18	12419955	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.83935518155002E-5	0.004
18	12419954	G	T	18	12419955	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.7395485643605E-5	0.006
18	12420145	C	A	18	12420146	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	stopgain SNV	ENSG00000141391:ENST00000587862:exon1:c.C93A:p.C31X;	5.47959532904733E-5	0.068
18	12420145	C	G	18	12420146	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000587862:exon1:c.C93G:p.C31W;	5.47959532904733E-5	0.014
18	12420145	C	T	18	12420146	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000587862:exon1:c.C93T:p.C31C;	4.09774573448081E-5	0.004
18	12420146	A	C	18	12420147	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000587862:exon1:c.A94C:p.S32R;	1.69884688945688E-4	0.004
18	12420146	A	G	18	12420147	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000587862:exon1:c.A94G:p.S32G;	1.69884688945688E-4	0.004
18	12420146	A	T	18	12420147	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000587862:exon1:c.A94T:p.S32C;	3.08739841361144E-4	0.006
18	12420147	G	A	18	12420148	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000587862:exon1:c.G95A:p.S32N;	1.80576877278223E-4	0.008
18	12420147	G	C	18	12420148	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000587862:exon1:c.G95C:p.S32T;	1.80576877278223E-4	0.01
18	12420147	G	T	18	12420148	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000587862:exon1:c.G95T:p.S32I;	1.80576877278223E-4	0.008
18	12420148	G	A	18	12420149	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000587862:exon1:c.95+1G>A)	.	.	1.80576877278223E-4	0.008
18	12420148	G	C	18	12420149	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000587862:exon1:c.95+1G>C)	.	.	7.60815764102212E-5	0.004
18	12420148	G	T	18	12420149	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000587862:exon1:c.95+1G>T)	.	.	1.80576877278223E-4	0.008
18	12420149	T	A	18	12420150	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000587862:exon1:c.95+2T>A)	.	.	6.89925739660516E-5	0.006
18	12420149	T	C	18	12420150	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000587862:exon1:c.95+2T>C)	.	.	6.89925739660516E-5	0.004
18	12420149	T	G	18	12420150	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000587862:exon1:c.95+2T>G)	.	.	6.89925739660516E-5	0.004
18	12420150	G	A	18	12420151	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	3.31929338280547E-5	0.0
18	12420150	G	C	18	12420151	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	3.07620641825897E-5	0.0
18	12420150	G	T	18	12420151	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	3.07620641825897E-5	0.0
18	12420151	C	A	18	12420152	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.014
18	12420151	C	G	18	12420152	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.014
18	12420151	C	T	18	12420152	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.032
18	12420152	T	A	18	12420153	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	8.49702646665041E-5	0.004
18	12420152	T	C	18	12420153	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	4.08802802279601E-5	0.0
18	12420152	T	G	18	12420153	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	4.08802802279601E-5	0.0
18	12420153	G	A	18	12420154	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.032
18	12420153	G	C	18	12420154	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.016
18	12420153	G	T	18	12420154	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.014
18	12420154	A	C	18	12420155	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	1.69884688945688E-4	0.004
18	12420154	A	G	18	12420155	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	1.69884688945688E-4	0.006
18	12420154	A	T	18	12420155	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	1.69884688945688E-4	0.006
18	12420155	G	A	18	12420156	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.032
18	12420155	G	C	18	12420156	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.014
18	12420155	G	T	18	12420156	n	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.47959532904733E-5	0.014
18	12420312	C	A	18	12420313	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	4.21069522250582E-4	0.024
18	12420312	C	G	18	12420313	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	9.21864094959579E-4	0.044
18	12420312	C	T	18	12420313	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.04576395161995E-5	0.0
18	12420313	T	A	18	12420314	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.246120638786218	0.524
18	12420313	T	C	18	12420314	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.150566060022809	0.264
18	12420313	T	G	18	12420314	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.200565356816801	0.48
18	12420314	C	A	18	12420315	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	4.7058864618335E-4	0.18
18	12420314	C	G	18	12420315	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	3.69307030321805E-4	0.136
18	12420314	C	T	18	12420315	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	4.04945935649033E-5	0.004
18	12420315	T	A	18	12420316	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0352366190154207	0.162
18	12420315	T	C	18	12420316	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.00218029443386991	0.054
18	12420315	T	G	18	12420316	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.00456520486027253	0.1
18	12420316	C	A	18	12420317	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.00103805168283807	0.2
18	12420316	C	G	18	12420317	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	3.11595716059026E-4	0.032
18	12420316	C	T	18	12420317	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.35365674566129E-5	0.004
18	12420317	C	A	18	12420318	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0264960368927005	0.078
18	12420317	C	G	18	12420318	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0125273139422483	0.07
18	12420317	C	T	18	12420318	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	4.37310654974744E-4	0.002
18	12420318	C	A	18	12420319	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0049200540607093	0.174
18	12420318	C	G	18	12420319	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0049200540607093	0.198
18	12420318	C	T	18	12420319	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	1.59030190381414E-4	0.01
18	12420319	C	A	18	12420320	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.998719486784244	0.81
18	12420319	C	G	18	12420320	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	7.79483446461162E-4	0.136
18	12420319	C	T	18	12420320	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	1.07977393499941E-4	0.0
18	12420320	G	A	18	12420321	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	9.95657908498559E-5	0.0
18	12420320	G	C	18	12420321	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	7.76971759153126E-5	0.024
18	12420320	G	T	18	12420321	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	1.54426872882307E-4	0.018
18	12420321	C	A	18	12420322	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.980386551694343	0.816
18	12420321	C	G	18	12420322	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.999884621460439	0.908
18	12420321	C	T	18	12420322	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.00301137756236263	0.162
18	12420322	A	C	18	12420323	y	y	splicing	SLMO1(NM_006553:exon2:c.33-2A>C;NM_001142405:exon2:c.33-2A>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.33-2A>C;ENST00000336990:exon2:c.33-2A>C;ENST00000588729:exon3:c.174-2A>C;ENST00000587862:exon2:c.96-2A>C)	.	.	0.999993672935256	0.922
18	12420322	A	G	18	12420323	y	y	splicing	SLMO1(NM_006553:exon2:c.33-2A>G;NM_001142405:exon2:c.33-2A>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.33-2A>G;ENST00000336990:exon2:c.33-2A>G;ENST00000588729:exon3:c.174-2A>G;ENST00000587862:exon2:c.96-2A>G)	.	.	0.999993672935256	0.922
18	12420322	A	T	18	12420323	y	y	splicing	SLMO1(NM_006553:exon2:c.33-2A>T;NM_001142405:exon2:c.33-2A>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.33-2A>T;ENST00000336990:exon2:c.33-2A>T;ENST00000588729:exon3:c.174-2A>T;ENST00000587862:exon2:c.96-2A>T)	.	.	0.999993672935256	0.922
18	12420323	G	A	18	12420324	y	y	splicing	SLMO1(NM_006553:exon2:c.33-1G>A;NM_001142405:exon2:c.33-1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.33-1G>A;ENST00000336990:exon2:c.33-1G>A;ENST00000588729:exon3:c.174-1G>A;ENST00000587862:exon2:c.96-1G>A)	.	.	0.999858944389918	0.896
18	12420323	G	C	18	12420324	y	y	splicing	SLMO1(NM_006553:exon2:c.33-1G>C;NM_001142405:exon2:c.33-1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.33-1G>C;ENST00000336990:exon2:c.33-1G>C;ENST00000588729:exon3:c.174-1G>C;ENST00000587862:exon2:c.96-1G>C)	.	.	0.999858944389918	0.904
18	12420323	G	T	18	12420324	y	y	splicing	SLMO1(NM_006553:exon2:c.33-1G>T;NM_001142405:exon2:c.33-1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.33-1G>T;ENST00000336990:exon2:c.33-1G>T;ENST00000588729:exon3:c.174-1G>T;ENST00000587862:exon2:c.96-1G>T)	.	.	0.999858944389918	0.904
18	12420324	C	A	18	12420325	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon2:c.C33A:p.G11G;SLMO1:NM_006553:exon2:c.C33A:p.G11G;	exonic	ENSG00000141391	stopgain SNV	ENSG00000141391:ENST00000588729:exon3:c.C174A:p.C58X;	0.00188545299530576	0.014
18	12420324	C	G	18	12420325	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon2:c.C33G:p.G11G;SLMO1:NM_006553:exon2:c.C33G:p.G11G;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000588729:exon3:c.C174G:p.C58W;ENSG00000141391:ENST00000587862:exon2:c.C96G:p.S32R;	0.00218517175135244	0.08
18	12420324	C	T	18	12420325	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon2:c.C33T:p.G11G;SLMO1:NM_006553:exon2:c.C33T:p.G11G;	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000336990:exon2:c.C33T:p.G11G;ENSG00000141391:ENST00000588729:exon3:c.C174T:p.C58C;ENSG00000141391:ENST00000587862:exon2:c.C96T:p.S32S;ENSG00000141391:ENST00000440960:exon2:c.C33T:p.G11G;	0.0516000061684857	0.28
18	12420325	C	A	18	12420326	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.C34A:p.H12N;SLMO1:NM_006553:exon2:c.C34A:p.H12N;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon2:c.C34A:p.H12N;ENSG00000141391:ENST00000588729:exon3:c.C175A:p.H59N;ENSG00000141391:ENST00000587862:exon2:c.C97A:p.H33N;ENSG00000141391:ENST00000440960:exon2:c.C34A:p.H12N;	0.00387451422745229	0.042
18	12420325	C	G	18	12420326	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.C34G:p.H12D;SLMO1:NM_006553:exon2:c.C34G:p.H12D;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon2:c.C34G:p.H12D;ENSG00000141391:ENST00000588729:exon3:c.C175G:p.H59D;ENSG00000141391:ENST00000587862:exon2:c.C97G:p.H33D;ENSG00000141391:ENST00000440960:exon2:c.C34G:p.H12D;	0.0105614714471334	0.102
18	12420325	C	T	18	12420326	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.C34T:p.H12Y;SLMO1:NM_006553:exon2:c.C34T:p.H12Y;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon2:c.C34T:p.H12Y;ENSG00000141391:ENST00000588729:exon3:c.C175T:p.H59Y;ENSG00000141391:ENST00000587862:exon2:c.C97T:p.H33Y;ENSG00000141391:ENST00000440960:exon2:c.C34T:p.H12Y;	6.68112640833191E-4	0.0
18	12420490	G	A	18	12420491	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.G199A:p.A67T;SLMO1:NM_006553:exon2:c.G199A:p.A67T;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.G136A:p.A46T;ENSG00000141391:ENST00000336990:exon2:c.G199A:p.A67T;ENSG00000141391:ENST00000588729:exon3:c.G340A:p.A114T;ENSG00000141391:ENST00000587862:exon2:c.G262A:p.A88T;ENSG00000141391:ENST00000592149:exon1:c.G136A:p.A46T;ENSG00000141391:ENST00000440960:exon2:c.G199A:p.A67T;	0.597503400418682	0.664
18	12420490	G	C	18	12420491	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.G199C:p.A67P;SLMO1:NM_006553:exon2:c.G199C:p.A67P;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.G136C:p.A46P;ENSG00000141391:ENST00000336990:exon2:c.G199C:p.A67P;ENSG00000141391:ENST00000588729:exon3:c.G340C:p.A114P;ENSG00000141391:ENST00000587862:exon2:c.G262C:p.A88P;ENSG00000141391:ENST00000592149:exon1:c.G136C:p.A46P;ENSG00000141391:ENST00000440960:exon2:c.G199C:p.A67P;	0.67840911268231	0.698
18	12420490	G	T	18	12420491	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.G199T:p.A67S;SLMO1:NM_006553:exon2:c.G199T:p.A67S;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.G136T:p.A46S;ENSG00000141391:ENST00000336990:exon2:c.G199T:p.A67S;ENSG00000141391:ENST00000588729:exon3:c.G340T:p.A114S;ENSG00000141391:ENST00000587862:exon2:c.G262T:p.A88S;ENSG00000141391:ENST00000592149:exon1:c.G136T:p.A46S;ENSG00000141391:ENST00000440960:exon2:c.G199T:p.A67S;	0.78697856296231	0.564
18	12420491	C	A	18	12420492	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.C200A:p.A67E;SLMO1:NM_006553:exon2:c.C200A:p.A67E;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.C137A:p.A46E;ENSG00000141391:ENST00000336990:exon2:c.C200A:p.A67E;ENSG00000141391:ENST00000588729:exon3:c.C341A:p.A114E;ENSG00000141391:ENST00000587862:exon2:c.C263A:p.A88E;ENSG00000141391:ENST00000592149:exon1:c.C137A:p.A46E;ENSG00000141391:ENST00000440960:exon2:c.C200A:p.A67E;	0.676349172031854	0.59
18	12420491	C	G	18	12420492	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.C200G:p.A67G;SLMO1:NM_006553:exon2:c.C200G:p.A67G;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.C137G:p.A46G;ENSG00000141391:ENST00000336990:exon2:c.C200G:p.A67G;ENSG00000141391:ENST00000588729:exon3:c.C341G:p.A114G;ENSG00000141391:ENST00000587862:exon2:c.C263G:p.A88G;ENSG00000141391:ENST00000592149:exon1:c.C137G:p.A46G;ENSG00000141391:ENST00000440960:exon2:c.C200G:p.A67G;	0.976064002522749	0.642
18	12420491	C	T	18	12420492	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon2:c.C200T:p.A67V;SLMO1:NM_006553:exon2:c.C200T:p.A67V;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.C137T:p.A46V;ENSG00000141391:ENST00000336990:exon2:c.C200T:p.A67V;ENSG00000141391:ENST00000588729:exon3:c.C341T:p.A114V;ENSG00000141391:ENST00000587862:exon2:c.C263T:p.A88V;ENSG00000141391:ENST00000592149:exon1:c.C137T:p.A46V;ENSG00000141391:ENST00000440960:exon2:c.C200T:p.A67V;	0.976452909896926	0.79
18	12420492	G	A	18	12420493	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon2:c.G201A:p.A67A;SLMO1:NM_006553:exon2:c.G201A:p.A67A;	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.G138A:p.A46A;ENSG00000141391:ENST00000336990:exon2:c.G201A:p.A67A;ENSG00000141391:ENST00000588729:exon3:c.G342A:p.A114A;ENSG00000141391:ENST00000587862:exon2:c.G264A:p.A88A;ENSG00000141391:ENST00000592149:exon1:c.G138A:p.A46A;ENSG00000141391:ENST00000440960:exon2:c.G201A:p.A67A;	0.999984489410715	0.992
18	12420492	G	C	18	12420493	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon2:c.G201C:p.A67A;SLMO1:NM_006553:exon2:c.G201C:p.A67A;	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.G138C:p.A46A;ENSG00000141391:ENST00000336990:exon2:c.G201C:p.A67A;ENSG00000141391:ENST00000588729:exon3:c.G342C:p.A114A;ENSG00000141391:ENST00000587862:exon2:c.G264C:p.A88A;ENSG00000141391:ENST00000592149:exon1:c.G138C:p.A46A;ENSG00000141391:ENST00000440960:exon2:c.G201C:p.A67A;	0.999981311401574	1.0
18	12420492	G	T	18	12420493	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon2:c.G201T:p.A67A;SLMO1:NM_006553:exon2:c.G201T:p.A67A;	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000589952:exon2:c.G138T:p.A46A;ENSG00000141391:ENST00000336990:exon2:c.G201T:p.A67A;ENSG00000141391:ENST00000588729:exon3:c.G342T:p.A114A;ENSG00000141391:ENST00000587862:exon2:c.G264T:p.A88A;ENSG00000141391:ENST00000592149:exon1:c.G138T:p.A46A;ENSG00000141391:ENST00000440960:exon2:c.G201T:p.A67A;	0.999927620195688	0.944
18	12420493	G	A	18	12420494	y	y	splicing	SLMO1(NM_006553:exon2:c.201+1G>A;NM_001142405:exon2:c.201+1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.201+1G>A;ENST00000336990:exon2:c.201+1G>A;ENST00000588729:exon3:c.342+1G>A;ENST00000589952:exon2:c.138+1G>A;ENST00000592149:exon1:c.138+1G>A;ENST00000587862:exon2:c.264+1G>A)	.	.	0.999988247793601	0.928
18	12420493	G	C	18	12420494	y	y	splicing	SLMO1(NM_006553:exon2:c.201+1G>C;NM_001142405:exon2:c.201+1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.201+1G>C;ENST00000336990:exon2:c.201+1G>C;ENST00000588729:exon3:c.342+1G>C;ENST00000589952:exon2:c.138+1G>C;ENST00000592149:exon1:c.138+1G>C;ENST00000587862:exon2:c.264+1G>C)	.	.	0.999988247793601	0.928
18	12420493	G	T	18	12420494	y	y	splicing	SLMO1(NM_006553:exon2:c.201+1G>T;NM_001142405:exon2:c.201+1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.201+1G>T;ENST00000336990:exon2:c.201+1G>T;ENST00000588729:exon3:c.342+1G>T;ENST00000589952:exon2:c.138+1G>T;ENST00000592149:exon1:c.138+1G>T;ENST00000587862:exon2:c.264+1G>T)	.	.	0.999988247793601	0.928
18	12420494	T	A	18	12420495	y	y	splicing	SLMO1(NM_006553:exon2:c.201+2T>A;NM_001142405:exon2:c.201+2T>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.201+2T>A;ENST00000336990:exon2:c.201+2T>A;ENST00000588729:exon3:c.342+2T>A;ENST00000589952:exon2:c.138+2T>A;ENST00000592149:exon1:c.138+2T>A;ENST00000587862:exon2:c.264+2T>A)	.	.	0.999993672935256	0.928
18	12420494	T	C	18	12420495	y	y	splicing	SLMO1(NM_006553:exon2:c.201+2T>C;NM_001142405:exon2:c.201+2T>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.201+2T>C;ENST00000336990:exon2:c.201+2T>C;ENST00000588729:exon3:c.342+2T>C;ENST00000589952:exon2:c.138+2T>C;ENST00000592149:exon1:c.138+2T>C;ENST00000587862:exon2:c.264+2T>C)	.	.	0.999991133275552	0.944
18	12420494	T	G	18	12420495	y	y	splicing	SLMO1(NM_006553:exon2:c.201+2T>G;NM_001142405:exon2:c.201+2T>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon2:c.201+2T>G;ENST00000336990:exon2:c.201+2T>G;ENST00000588729:exon3:c.342+2T>G;ENST00000589952:exon2:c.138+2T>G;ENST00000592149:exon1:c.138+2T>G;ENST00000587862:exon2:c.264+2T>G)	.	.	0.999993672935256	0.928
18	12420495	G	A	18	12420496	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00419469311338928	0.026
18	12420495	G	C	18	12420496	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.996257508621031	0.852
18	12420495	G	T	18	12420496	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999575792018538	0.876
18	12420496	A	C	18	12420497	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.994907629211516	0.862
18	12420496	A	G	18	12420497	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.998438771563511	0.886
18	12420496	A	T	18	12420497	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.997963952451066	0.884
18	12420497	G	A	18	12420498	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999957446545447	1.0
18	12420497	G	C	18	12420498	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999955371479541	0.916
18	12420497	G	T	18	12420498	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999919582967806	0.972
18	12420498	C	A	18	12420499	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0030819536342679	0.226
18	12420498	C	G	18	12420499	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00170152436817941	0.14
18	12420498	C	T	18	12420499	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.17182926876926E-4	0.012
18	12420499	G	A	18	12420500	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.60995535525063E-5	0.0
18	12420499	G	C	18	12420500	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.87537910763572E-5	0.004
18	12420499	G	T	18	12420500	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.27810792838673E-4	0.01
18	12420500	G	A	18	12420501	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.29747736633268E-4	0.002
18	12420500	G	C	18	12420501	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.4397131142504E-5	0.0
18	12420500	G	T	18	12420501	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.69465403357523E-4	0.038
18	12421527	T	A	18	12421528	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.016576407829608	0.372
18	12421527	T	C	18	12421528	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	1.12786967379344E-4	0.046
18	12421527	T	G	18	12421528	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0214775979451965	0.42
18	12421528	T	A	18	12421529	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.116819093982302	0.47
18	12421528	T	C	18	12421529	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.017478279655911	0.19
18	12421528	T	G	18	12421529	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0320819365473384	0.404
18	12421529	T	A	18	12421530	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.99943508157467	0.948
18	12421529	T	C	18	12421530	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.60102681020753E-4	0.006
18	12421529	T	G	18	12421530	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0605223960758388	0.348
18	12421530	G	A	18	12421531	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.42141110732683E-5	0.002
18	12421530	G	C	18	12421531	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	4.63939584988318E-5	0.0
18	12421530	G	T	18	12421531	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.11685880140903E-5	0.0
18	12421531	T	A	18	12421532	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0236536682706682	0.214
18	12421531	T	C	18	12421532	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	5.00882388872964E-5	0.014
18	12421531	T	G	18	12421532	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.00326599567963564	0.238
18	12421532	T	A	18	12421533	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	3.23863375570695E-4	0.022
18	12421532	T	C	18	12421533	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	1.676554202524E-5	0.0
18	12421532	T	G	18	12421533	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	2.88050269393674E-4	0.04
18	12421533	T	A	18	12421534	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.601873174755433	0.52
18	12421533	T	C	18	12421534	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	9.07078844498528E-4	0.04
18	12421533	T	G	18	12421534	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.639367322249176	0.562
18	12421534	T	A	18	12421535	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0276031190618373	0.366
18	12421534	T	C	18	12421535	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.38955616675403E-4	0.022
18	12421534	T	G	18	12421535	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0147304679567614	0.334
18	12421535	C	A	18	12421536	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	4.15975547824449E-5	0.0
18	12421535	C	G	18	12421536	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	6.91208263328472E-5	0.004
18	12421535	C	T	18	12421536	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	3.28619088397499E-5	0.0
18	12421536	T	A	18	12421537	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.0149042255575101	0.22
18	12421536	T	C	18	12421537	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	8.04022894239711E-5	0.0
18	12421536	T	G	18	12421537	y	y	intronic	SLMO1	.	.	UTR5	ENSG00000141391	.	.	0.98425688659704	0.668
18	12421537	A	C	18	12421538	y	y	splicing	SLMO1(NM_006553:exon3:c.202-2A>C;NM_001142405:exon3:c.202-2A>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.202-2A>C;ENST00000336990:exon3:c.202-2A>C;ENST00000588729:exon4:c.343-2A>C;ENST00000589952:exon3:c.139-2A>C;ENST00000592149:exon2:c.139-2A>C;ENST00000587862:exon3:c.265-2A>C)	.	.	0.999988247793601	0.928
18	12421537	A	G	18	12421538	y	y	splicing	SLMO1(NM_006553:exon3:c.202-2A>G;NM_001142405:exon3:c.202-2A>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.202-2A>G;ENST00000336990:exon3:c.202-2A>G;ENST00000588729:exon4:c.343-2A>G;ENST00000589952:exon3:c.139-2A>G;ENST00000592149:exon2:c.139-2A>G;ENST00000587862:exon3:c.265-2A>G)	.	.	0.999988247793601	0.928
18	12421537	A	T	18	12421538	y	y	splicing	SLMO1(NM_006553:exon3:c.202-2A>T;NM_001142405:exon3:c.202-2A>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.202-2A>T;ENST00000336990:exon3:c.202-2A>T;ENST00000588729:exon4:c.343-2A>T;ENST00000589952:exon3:c.139-2A>T;ENST00000592149:exon2:c.139-2A>T;ENST00000587862:exon3:c.265-2A>T)	.	.	0.999988247793601	0.928
18	12421538	G	A	18	12421539	y	y	splicing	SLMO1(NM_006553:exon3:c.202-1G>A;NM_001142405:exon3:c.202-1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.202-1G>A;ENST00000336990:exon3:c.202-1G>A;ENST00000588729:exon4:c.343-1G>A;ENST00000589952:exon3:c.139-1G>A;ENST00000592149:exon2:c.139-1G>A;ENST00000587862:exon3:c.265-1G>A)	.	.	0.999985532734767	0.936
18	12421538	G	C	18	12421539	y	y	splicing	SLMO1(NM_006553:exon3:c.202-1G>C;NM_001142405:exon3:c.202-1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.202-1G>C;ENST00000336990:exon3:c.202-1G>C;ENST00000588729:exon4:c.343-1G>C;ENST00000589952:exon3:c.139-1G>C;ENST00000592149:exon2:c.139-1G>C;ENST00000587862:exon3:c.265-1G>C)	.	.	0.999985532734767	0.936
18	12421538	G	T	18	12421539	y	y	splicing	SLMO1(NM_006553:exon3:c.202-1G>T;NM_001142405:exon3:c.202-1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.202-1G>T;ENST00000336990:exon3:c.202-1G>T;ENST00000588729:exon4:c.343-1G>T;ENST00000589952:exon3:c.139-1G>T;ENST00000592149:exon2:c.139-1G>T;ENST00000587862:exon3:c.265-1G>T)	.	.	0.999985532734767	0.936
18	12421539	A	C	18	12421540	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A202C:p.I68L;SLMO1:NM_006553:exon3:c.A202C:p.I68L;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A139C:p.I47L;ENSG00000141391:ENST00000336990:exon3:c.A202C:p.I68L;ENSG00000141391:ENST00000588729:exon4:c.A343C:p.I115L;ENSG00000141391:ENST00000587862:exon3:c.A265C:p.I89L;ENSG00000141391:ENST00000592149:exon2:c.A139C:p.I47L;ENSG00000141391:ENST00000440960:exon3:c.A202C:p.I68L;	0.00230217832751126	0.1
18	12421539	A	G	18	12421540	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A202G:p.I68V;SLMO1:NM_006553:exon3:c.A202G:p.I68V;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A139G:p.I47V;ENSG00000141391:ENST00000336990:exon3:c.A202G:p.I68V;ENSG00000141391:ENST00000588729:exon4:c.A343G:p.I115V;ENSG00000141391:ENST00000587862:exon3:c.A265G:p.I89V;ENSG00000141391:ENST00000592149:exon2:c.A139G:p.I47V;ENSG00000141391:ENST00000440960:exon3:c.A202G:p.I68V;	0.00111479161910283	0.008
18	12421539	A	T	18	12421540	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A202T:p.I68F;SLMO1:NM_006553:exon3:c.A202T:p.I68F;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A139T:p.I47F;ENSG00000141391:ENST00000336990:exon3:c.A202T:p.I68F;ENSG00000141391:ENST00000588729:exon4:c.A343T:p.I115F;ENSG00000141391:ENST00000587862:exon3:c.A265T:p.I89F;ENSG00000141391:ENST00000592149:exon2:c.A139T:p.I47F;ENSG00000141391:ENST00000440960:exon3:c.A202T:p.I68F;	0.301073894403445	0.542
18	12421540	T	A	18	12421541	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.T203A:p.I68N;SLMO1:NM_006553:exon3:c.T203A:p.I68N;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.T140A:p.I47N;ENSG00000141391:ENST00000336990:exon3:c.T203A:p.I68N;ENSG00000141391:ENST00000588729:exon4:c.T344A:p.I115N;ENSG00000141391:ENST00000587862:exon3:c.T266A:p.I89N;ENSG00000141391:ENST00000592149:exon2:c.T140A:p.I47N;ENSG00000141391:ENST00000440960:exon3:c.T203A:p.I68N;	0.1950169684536	0.578
18	12421540	T	C	18	12421541	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.T203C:p.I68T;SLMO1:NM_006553:exon3:c.T203C:p.I68T;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.T140C:p.I47T;ENSG00000141391:ENST00000336990:exon3:c.T203C:p.I68T;ENSG00000141391:ENST00000588729:exon4:c.T344C:p.I115T;ENSG00000141391:ENST00000587862:exon3:c.T266C:p.I89T;ENSG00000141391:ENST00000592149:exon2:c.T140C:p.I47T;ENSG00000141391:ENST00000440960:exon3:c.T203C:p.I68T;	0.228825870110403	0.572
18	12421540	T	G	18	12421541	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.T203G:p.I68S;SLMO1:NM_006553:exon3:c.T203G:p.I68S;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.T140G:p.I47S;ENSG00000141391:ENST00000336990:exon3:c.T203G:p.I68S;ENSG00000141391:ENST00000588729:exon4:c.T344G:p.I115S;ENSG00000141391:ENST00000587862:exon3:c.T266G:p.I89S;ENSG00000141391:ENST00000592149:exon2:c.T140G:p.I47S;ENSG00000141391:ENST00000440960:exon3:c.T203G:p.I68S;	0.196096280688242	0.596
18	12421626	A	C	18	12421627	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A289C:p.N97H;SLMO1:NM_006553:exon3:c.A289C:p.N97H;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A226C:p.N76H;ENSG00000141391:ENST00000336990:exon3:c.A289C:p.N97H;ENSG00000141391:ENST00000587735:exon1:c.A19C:p.N7H;ENSG00000141391:ENST00000589565:exon2:c.A19C:p.N7H;ENSG00000141391:ENST00000588729:exon4:c.A430C:p.N144H;ENSG00000141391:ENST00000587862:exon3:c.A352C:p.N118H;ENSG00000141391:ENST00000590956:exon2:c.A19C:p.N7H;ENSG00000141391:ENST00000592149:exon2:c.A226C:p.N76H;ENSG00000141391:ENST00000440960:exon3:c.A289C:p.N97H;	0.742356604588675	0.786
18	12421626	A	G	18	12421627	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A289G:p.N97D;SLMO1:NM_006553:exon3:c.A289G:p.N97D;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A226G:p.N76D;ENSG00000141391:ENST00000336990:exon3:c.A289G:p.N97D;ENSG00000141391:ENST00000587735:exon1:c.A19G:p.N7D;ENSG00000141391:ENST00000589565:exon2:c.A19G:p.N7D;ENSG00000141391:ENST00000588729:exon4:c.A430G:p.N144D;ENSG00000141391:ENST00000587862:exon3:c.A352G:p.N118D;ENSG00000141391:ENST00000590956:exon2:c.A19G:p.N7D;ENSG00000141391:ENST00000592149:exon2:c.A226G:p.N76D;ENSG00000141391:ENST00000440960:exon3:c.A289G:p.N97D;	0.70918799689912	0.6
18	12421626	A	T	18	12421627	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A289T:p.N97Y;SLMO1:NM_006553:exon3:c.A289T:p.N97Y;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A226T:p.N76Y;ENSG00000141391:ENST00000336990:exon3:c.A289T:p.N97Y;ENSG00000141391:ENST00000587735:exon1:c.A19T:p.N7Y;ENSG00000141391:ENST00000589565:exon2:c.A19T:p.N7Y;ENSG00000141391:ENST00000588729:exon4:c.A430T:p.N144Y;ENSG00000141391:ENST00000587862:exon3:c.A352T:p.N118Y;ENSG00000141391:ENST00000590956:exon2:c.A19T:p.N7Y;ENSG00000141391:ENST00000592149:exon2:c.A226T:p.N76Y;ENSG00000141391:ENST00000440960:exon3:c.A289T:p.N97Y;	0.992809233139491	0.764
18	12421627	A	C	18	12421628	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A290C:p.N97T;SLMO1:NM_006553:exon3:c.A290C:p.N97T;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A227C:p.N76T;ENSG00000141391:ENST00000336990:exon3:c.A290C:p.N97T;ENSG00000141391:ENST00000587735:exon1:c.A20C:p.N7T;ENSG00000141391:ENST00000589565:exon2:c.A20C:p.N7T;ENSG00000141391:ENST00000588729:exon4:c.A431C:p.N144T;ENSG00000141391:ENST00000587862:exon3:c.A353C:p.N118T;ENSG00000141391:ENST00000590956:exon2:c.A20C:p.N7T;ENSG00000141391:ENST00000592149:exon2:c.A227C:p.N76T;ENSG00000141391:ENST00000440960:exon3:c.A290C:p.N97T;	0.9994306150737	0.994
18	12421627	A	G	18	12421628	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A290G:p.N97S;SLMO1:NM_006553:exon3:c.A290G:p.N97S;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A227G:p.N76S;ENSG00000141391:ENST00000336990:exon3:c.A290G:p.N97S;ENSG00000141391:ENST00000587735:exon1:c.A20G:p.N7S;ENSG00000141391:ENST00000589565:exon2:c.A20G:p.N7S;ENSG00000141391:ENST00000588729:exon4:c.A431G:p.N144S;ENSG00000141391:ENST00000587862:exon3:c.A353G:p.N118S;ENSG00000141391:ENST00000590956:exon2:c.A20G:p.N7S;ENSG00000141391:ENST00000592149:exon2:c.A227G:p.N76S;ENSG00000141391:ENST00000440960:exon3:c.A290G:p.N97S;	0.996448748055713	0.952
18	12421627	A	T	18	12421628	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.A290T:p.N97I;SLMO1:NM_006553:exon3:c.A290T:p.N97I;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.A227T:p.N76I;ENSG00000141391:ENST00000336990:exon3:c.A290T:p.N97I;ENSG00000141391:ENST00000587735:exon1:c.A20T:p.N7I;ENSG00000141391:ENST00000589565:exon2:c.A20T:p.N7I;ENSG00000141391:ENST00000588729:exon4:c.A431T:p.N144I;ENSG00000141391:ENST00000587862:exon3:c.A353T:p.N118I;ENSG00000141391:ENST00000590956:exon2:c.A20T:p.N7I;ENSG00000141391:ENST00000592149:exon2:c.A227T:p.N76I;ENSG00000141391:ENST00000440960:exon3:c.A290T:p.N97I;	0.9994306150737	0.978
18	12421628	T	A	18	12421629	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.T291A:p.N97K;SLMO1:NM_006553:exon3:c.T291A:p.N97K;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.T228A:p.N76K;ENSG00000141391:ENST00000336990:exon3:c.T291A:p.N97K;ENSG00000141391:ENST00000587735:exon1:c.T21A:p.N7K;ENSG00000141391:ENST00000589565:exon2:c.T21A:p.N7K;ENSG00000141391:ENST00000588729:exon4:c.T432A:p.N144K;ENSG00000141391:ENST00000587862:exon3:c.T354A:p.N118K;ENSG00000141391:ENST00000590956:exon2:c.T21A:p.N7K;ENSG00000141391:ENST00000592149:exon2:c.T228A:p.N76K;ENSG00000141391:ENST00000440960:exon3:c.T291A:p.N97K;	0.80003286391322	0.824
18	12421628	T	C	18	12421629	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon3:c.T291C:p.N97N;SLMO1:NM_006553:exon3:c.T291C:p.N97N;	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.T228C:p.N76N;ENSG00000141391:ENST00000336990:exon3:c.T291C:p.N97N;ENSG00000141391:ENST00000587735:exon1:c.T21C:p.N7N;ENSG00000141391:ENST00000589565:exon2:c.T21C:p.N7N;ENSG00000141391:ENST00000588729:exon4:c.T432C:p.N144N;ENSG00000141391:ENST00000587862:exon3:c.T354C:p.N118N;ENSG00000141391:ENST00000590956:exon2:c.T21C:p.N7N;ENSG00000141391:ENST00000592149:exon2:c.T228C:p.N76N;ENSG00000141391:ENST00000440960:exon3:c.T291C:p.N97N;	0.305049649941324	0.65
18	12421628	T	G	18	12421629	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon3:c.T291G:p.N97K;SLMO1:NM_006553:exon3:c.T291G:p.N97K;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon3:c.T228G:p.N76K;ENSG00000141391:ENST00000336990:exon3:c.T291G:p.N97K;ENSG00000141391:ENST00000587735:exon1:c.T21G:p.N7K;ENSG00000141391:ENST00000589565:exon2:c.T21G:p.N7K;ENSG00000141391:ENST00000588729:exon4:c.T432G:p.N144K;ENSG00000141391:ENST00000587862:exon3:c.T354G:p.N118K;ENSG00000141391:ENST00000590956:exon2:c.T21G:p.N7K;ENSG00000141391:ENST00000592149:exon2:c.T228G:p.N76K;ENSG00000141391:ENST00000440960:exon3:c.T291G:p.N97K;	0.301117262921684	0.29
18	12421629	G	A	18	12421630	y	y	splicing	SLMO1(NM_006553:exon3:c.291+1G>A;NM_001142405:exon3:c.291+1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.291+1G>A;ENST00000336990:exon3:c.291+1G>A;ENST00000590956:exon2:c.21+1G>A;ENST00000588729:exon4:c.432+1G>A;ENST00000589565:exon2:c.21+1G>A;ENST00000589952:exon3:c.228+1G>A;ENST00000592149:exon2:c.228+1G>A;ENST00000587862:exon3:c.354+1G>A;ENST00000587735:exon1:c.21+1G>A)	.	.	0.999985532734767	0.936
18	12421629	G	C	18	12421630	y	y	splicing	SLMO1(NM_006553:exon3:c.291+1G>C;NM_001142405:exon3:c.291+1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.291+1G>C;ENST00000336990:exon3:c.291+1G>C;ENST00000590956:exon2:c.21+1G>C;ENST00000588729:exon4:c.432+1G>C;ENST00000589565:exon2:c.21+1G>C;ENST00000589952:exon3:c.228+1G>C;ENST00000592149:exon2:c.228+1G>C;ENST00000587862:exon3:c.354+1G>C;ENST00000587735:exon1:c.21+1G>C)	.	.	0.999985532734767	0.936
18	12421629	G	T	18	12421630	y	y	splicing	SLMO1(NM_006553:exon3:c.291+1G>T;NM_001142405:exon3:c.291+1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.291+1G>T;ENST00000336990:exon3:c.291+1G>T;ENST00000590956:exon2:c.21+1G>T;ENST00000588729:exon4:c.432+1G>T;ENST00000589565:exon2:c.21+1G>T;ENST00000589952:exon3:c.228+1G>T;ENST00000592149:exon2:c.228+1G>T;ENST00000587862:exon3:c.354+1G>T;ENST00000587735:exon1:c.21+1G>T)	.	.	0.999985532734767	0.936
18	12421630	T	A	18	12421631	y	y	splicing	SLMO1(NM_006553:exon3:c.291+2T>A;NM_001142405:exon3:c.291+2T>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.291+2T>A;ENST00000336990:exon3:c.291+2T>A;ENST00000590956:exon2:c.21+2T>A;ENST00000588729:exon4:c.432+2T>A;ENST00000589565:exon2:c.21+2T>A;ENST00000589952:exon3:c.228+2T>A;ENST00000592149:exon2:c.228+2T>A;ENST00000587862:exon3:c.354+2T>A;ENST00000587735:exon1:c.21+2T>A)	.	.	0.999988247793601	0.928
18	12421630	T	C	18	12421631	y	y	splicing	SLMO1(NM_006553:exon3:c.291+2T>C;NM_001142405:exon3:c.291+2T>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.291+2T>C;ENST00000336990:exon3:c.291+2T>C;ENST00000590956:exon2:c.21+2T>C;ENST00000588729:exon4:c.432+2T>C;ENST00000589565:exon2:c.21+2T>C;ENST00000589952:exon3:c.228+2T>C;ENST00000592149:exon2:c.228+2T>C;ENST00000587862:exon3:c.354+2T>C;ENST00000587735:exon1:c.21+2T>C)	.	.	0.99340600729494	0.664
18	12421630	T	G	18	12421631	y	y	splicing	SLMO1(NM_006553:exon3:c.291+2T>G;NM_001142405:exon3:c.291+2T>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon3:c.291+2T>G;ENST00000336990:exon3:c.291+2T>G;ENST00000590956:exon2:c.21+2T>G;ENST00000588729:exon4:c.432+2T>G;ENST00000589565:exon2:c.21+2T>G;ENST00000589952:exon3:c.228+2T>G;ENST00000592149:exon2:c.228+2T>G;ENST00000587862:exon3:c.354+2T>G;ENST00000587735:exon1:c.21+2T>G)	.	.	0.999988247793601	0.928
18	12421631	A	C	18	12421632	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999729407101854	0.952
18	12421631	A	G	18	12421632	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.989197397703798	0.608
18	12421631	A	T	18	12421632	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999688591812238	0.97
18	12421632	A	C	18	12421633	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.996757953108425	0.918
18	12421632	A	G	18	12421633	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.997862314243657	0.994
18	12421632	A	T	18	12421633	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999334962131226	0.942
18	12421633	G	A	18	12421634	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999963856395248	1.0
18	12421633	G	C	18	12421634	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999917506209033	0.908
18	12421633	G	T	18	12421634	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999965845723167	0.986
18	12421634	C	A	18	12421635	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0253982219049093	0.182
18	12421634	C	G	18	12421635	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00861789850885597	0.082
18	12421634	C	T	18	12421635	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00182205398145287	0.042
18	12421635	A	C	18	12421636	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.5561637196223E-4	0.092
18	12421635	A	G	18	12421636	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.73282625697718E-4	0.094
18	12421635	A	T	18	12421636	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00108989654071225	0.074
18	12421636	A	C	18	12421637	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.55232293977891E-4	0.008
18	12421636	A	G	18	12421637	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.57491786523094E-4	0.01
18	12421636	A	T	18	12421637	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.52734514252422E-4	0.004
18	12422235	T	A	18	12422236	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422235	T	C	18	12422236	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422235	T	G	18	12422236	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422236	C	A	18	12422237	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.71037163550947E-5	0.012
18	12422236	C	G	18	12422237	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.71037163550947E-5	0.028
18	12422236	C	T	18	12422237	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.64191646885158E-5	0.026
18	12422237	T	A	18	12422238	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.75663348373525E-5	0.01
18	12422237	T	C	18	12422238	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.75663348373525E-5	0.01
18	12422237	T	G	18	12422238	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.75663348373525E-5	0.01
18	12422238	C	A	18	12422239	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.10813846295192E-5	0.046
18	12422238	C	G	18	12422239	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.10813846295192E-5	0.046
18	12422238	C	T	18	12422239	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.10813846295192E-5	0.046
18	12422239	T	A	18	12422240	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.07620641825897E-5	0.0
18	12422239	T	C	18	12422240	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422239	T	G	18	12422240	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422240	C	A	18	12422241	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422240	C	G	18	12422241	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422240	C	T	18	12422241	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422241	A	C	18	12422242	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422241	A	G	18	12422242	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422241	A	T	18	12422242	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422242	C	A	18	12422243	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.64191646885158E-5	0.012
18	12422242	C	G	18	12422243	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.71037163550947E-5	0.044
18	12422242	C	T	18	12422243	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.64191646885158E-5	0.01
18	12422243	C	A	18	12422244	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422243	C	G	18	12422244	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422243	C	T	18	12422244	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422244	T	A	18	12422245	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.13503796622452E-5	0.0
18	12422244	T	C	18	12422245	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.13503796622452E-5	0.0
18	12422244	T	G	18	12422245	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.13503796622452E-5	0.0
18	12422245	A	C	18	12422246	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.22-2A>C)	.	.	4.81587647171574E-5	0.008
18	12422245	A	G	18	12422246	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.22-2A>G)	.	.	4.81587647171574E-5	0.008
18	12422245	A	T	18	12422246	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.22-2A>T)	.	.	1.14307475062501E-4	0.014
18	12422246	G	A	18	12422247	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.22-1G>A)	.	.	4.04243866858565E-5	0.0
18	12422246	G	C	18	12422247	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.22-1G>C)	.	.	2.61707993540616E-5	0.0
18	12422246	G	T	18	12422247	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.22-1G>T)	.	.	4.04243866858565E-5	0.0
18	12422247	G	A	18	12422248	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.G22A:p.A8T;	6.270921211638E-5	0.008
18	12422247	G	C	18	12422248	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.G22C:p.A8P;	2.64191646885158E-5	0.008
18	12422247	G	T	18	12422248	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.G22T:p.A8S;	6.270921211638E-5	0.01
18	12422248	C	A	18	12422249	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.C23A:p.A8D;	6.270921211638E-5	0.012
18	12422248	C	G	18	12422249	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.C23G:p.A8G;	6.270921211638E-5	0.008
18	12422248	C	T	18	12422249	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.C23T:p.A8V;	6.270921211638E-5	0.124
18	12422338	C	A	18	12422339	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.C113A:p.T38K;	1.14307475062501E-4	0.04
18	12422338	C	G	18	12422339	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.C113G:p.T38R;	1.14307475062501E-4	0.02
18	12422338	C	T	18	12422339	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.C113T:p.T38I;	8.54825895632618E-5	0.012
18	12422339	A	C	18	12422340	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.A114C:p.T38T;	1.69884688945688E-4	0.014
18	12422339	A	G	18	12422340	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.A114G:p.T38T;	1.69884688945688E-4	0.014
18	12422339	A	T	18	12422340	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.A114T:p.T38T;	3.08739841361144E-4	0.012
18	12422340	G	A	18	12422341	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.G115A:p.D39N;	8.54825895632618E-5	0.02
18	12422340	G	C	18	12422341	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.G115C:p.D39H;	1.14307475062501E-4	0.02
18	12422340	G	T	18	12422341	n	y	intronic	SLMO1	.	.	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589565:exon3:c.G115T:p.D39Y;	1.14307475062501E-4	0.04
18	12422341	G	A	18	12422342	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.115+1G>A)	.	.	1.14307475062501E-4	0.104
18	12422341	G	C	18	12422342	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.115+1G>C)	.	.	1.14307475062501E-4	0.02
18	12422341	G	T	18	12422342	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.115+1G>T)	.	.	1.14307475062501E-4	0.024
18	12422342	T	A	18	12422343	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.115+2T>A)	.	.	7.42544334184685E-5	0.014
18	12422342	T	C	18	12422343	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.115+2T>C)	.	.	7.42544334184685E-5	0.012
18	12422342	T	G	18	12422343	n	y	intronic	SLMO1	.	.	splicing	ENSG00000141391(ENST00000589565:exon3:c.115+2T>G)	.	.	7.42544334184685E-5	0.012
18	12422343	G	A	18	12422344	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.14307475062501E-4	0.02
18	12422343	G	C	18	12422344	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.14307475062501E-4	0.022
18	12422343	G	T	18	12422344	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.14307475062501E-4	0.022
18	12422344	T	A	18	12422345	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.69884688945688E-4	0.012
18	12422344	T	C	18	12422345	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.69884688945688E-4	0.03
18	12422344	T	G	18	12422345	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.69884688945688E-4	0.028
18	12422345	G	A	18	12422346	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.00322118387133E-4	0.02
18	12422345	G	C	18	12422346	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.81587647171574E-5	0.014
18	12422345	G	T	18	12422346	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.81587647171574E-5	0.014
18	12422346	T	A	18	12422347	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.07620641825897E-5	0.0
18	12422346	T	C	18	12422347	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.07620641825897E-5	0.0
18	12422346	T	G	18	12422347	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.07620641825897E-5	0.0
18	12422347	A	C	18	12422348	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.58927937202005E-5	0.008
18	12422347	A	G	18	12422348	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.58927937202005E-5	0.008
18	12422347	A	T	18	12422348	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.58927937202005E-5	0.008
18	12422348	C	A	18	12422349	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422348	C	G	18	12422349	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12422348	C	T	18	12422349	n	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.99153316237132E-5	0.0
18	12427028	T	A	18	12427029	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00106347681879432	0.142
18	12427028	T	C	18	12427029	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.52044690989746E-4	0.046
18	12427028	T	G	18	12427029	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.8030730724801E-4	0.164
18	12427029	T	A	18	12427030	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.21489428908485E-5	0.094
18	12427029	T	C	18	12427030	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.64479732637294E-5	0.026
18	12427029	T	G	18	12427030	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.69964517097794E-5	0.134
18	12427030	T	A	18	12427031	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.2076669601118E-4	0.06
18	12427030	T	C	18	12427031	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.14108094840726E-5	0.002
18	12427030	T	G	18	12427031	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.20116479323856E-4	0.056
18	12427031	C	A	18	12427032	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.17208989115768E-4	0.048
18	12427031	C	G	18	12427032	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.1281976154726E-4	0.046
18	12427031	C	T	18	12427032	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.20158071176878E-5	0.02
18	12427032	T	A	18	12427033	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.93908167004528E-4	0.058
18	12427032	T	C	18	12427033	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.92084898331706E-4	0.008
18	12427032	T	G	18	12427033	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.2984380314014E-4	0.052
18	12427033	T	A	18	12427034	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00190861398520028	0.042
18	12427033	T	C	18	12427034	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.61090777433482E-5	0.0
18	12427033	T	G	18	12427034	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.89965665504571E-4	0.018
18	12427034	T	A	18	12427035	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0230556668205524	0.108
18	12427034	T	C	18	12427035	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0013709109581198	0.082
18	12427034	T	G	18	12427035	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0414484217329693	0.116
18	12427035	T	A	18	12427036	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.137998612969793	0.416
18	12427035	T	C	18	12427036	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0129174014712358	0.196
18	12427035	T	G	18	12427036	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.281121520909798	0.38
18	12427036	T	A	18	12427037	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	8.45814121008849E-5	0.002
18	12427036	T	C	18	12427037	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.92358213349128E-5	0.022
18	12427036	T	G	18	12427037	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.41772835870279E-4	0.02
18	12427037	A	C	18	12427038	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.29283236616644E-4	0.024
18	12427037	A	G	18	12427038	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.152840546371607	0.288
18	12427037	A	T	18	12427038	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.28063189568018E-5	0.0
18	12427038	A	C	18	12427039	y	y	splicing	SLMO1(NM_006553:exon4:c.292-2A>C;NM_001142405:exon4:c.292-2A>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.292-2A>C;ENST00000336990:exon4:c.292-2A>C;ENST00000590956:exon3:c.22-2A>C;ENST00000588729:exon5:c.433-2A>C;ENST00000589565:exon4:c.116-2A>C;ENST00000589952:exon4:c.229-2A>C;ENST00000592149:exon3:c.229-2A>C;ENST00000587862:exon4:c.355-2A>C;ENST00000587735:exon2:c.22-2A>C)	.	.	0.999988247793601	0.928
18	12427038	A	G	18	12427039	y	y	splicing	SLMO1(NM_006553:exon4:c.292-2A>G;NM_001142405:exon4:c.292-2A>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.292-2A>G;ENST00000336990:exon4:c.292-2A>G;ENST00000590956:exon3:c.22-2A>G;ENST00000588729:exon5:c.433-2A>G;ENST00000589565:exon4:c.116-2A>G;ENST00000589952:exon4:c.229-2A>G;ENST00000592149:exon3:c.229-2A>G;ENST00000587862:exon4:c.355-2A>G;ENST00000587735:exon2:c.22-2A>G)	.	.	0.999988247793601	0.928
18	12427038	A	T	18	12427039	y	y	splicing	SLMO1(NM_006553:exon4:c.292-2A>T;NM_001142405:exon4:c.292-2A>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.292-2A>T;ENST00000336990:exon4:c.292-2A>T;ENST00000590956:exon3:c.22-2A>T;ENST00000588729:exon5:c.433-2A>T;ENST00000589565:exon4:c.116-2A>T;ENST00000589952:exon4:c.229-2A>T;ENST00000592149:exon3:c.229-2A>T;ENST00000587862:exon4:c.355-2A>T;ENST00000587735:exon2:c.22-2A>T)	.	.	0.999988247793601	0.928
18	12427039	G	A	18	12427040	y	y	splicing	SLMO1(NM_006553:exon4:c.292-1G>A;NM_001142405:exon4:c.292-1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.292-1G>A;ENST00000336990:exon4:c.292-1G>A;ENST00000590956:exon3:c.22-1G>A;ENST00000588729:exon5:c.433-1G>A;ENST00000589565:exon4:c.116-1G>A;ENST00000589952:exon4:c.229-1G>A;ENST00000592149:exon3:c.229-1G>A;ENST00000587862:exon4:c.355-1G>A;ENST00000587735:exon2:c.22-1G>A)	.	.	0.999989263107695	0.934
18	12427039	G	C	18	12427040	y	y	splicing	SLMO1(NM_006553:exon4:c.292-1G>C;NM_001142405:exon4:c.292-1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.292-1G>C;ENST00000336990:exon4:c.292-1G>C;ENST00000590956:exon3:c.22-1G>C;ENST00000588729:exon5:c.433-1G>C;ENST00000589565:exon4:c.116-1G>C;ENST00000589952:exon4:c.229-1G>C;ENST00000592149:exon3:c.229-1G>C;ENST00000587862:exon4:c.355-1G>C;ENST00000587735:exon2:c.22-1G>C)	.	.	0.999989263107695	0.934
18	12427039	G	T	18	12427040	y	y	splicing	SLMO1(NM_006553:exon4:c.292-1G>T;NM_001142405:exon4:c.292-1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.292-1G>T;ENST00000336990:exon4:c.292-1G>T;ENST00000590956:exon3:c.22-1G>T;ENST00000588729:exon5:c.433-1G>T;ENST00000589565:exon4:c.116-1G>T;ENST00000589952:exon4:c.229-1G>T;ENST00000592149:exon3:c.229-1G>T;ENST00000587862:exon4:c.355-1G>T;ENST00000587735:exon2:c.22-1G>T)	.	.	0.999989263107695	0.934
18	12427040	A	C	18	12427041	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.A292C:p.I98L;SLMO1:NM_006553:exon4:c.A292C:p.I98L;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A229C:p.I77L;ENSG00000141391:ENST00000336990:exon4:c.A292C:p.I98L;ENSG00000141391:ENST00000587735:exon2:c.A22C:p.I8L;ENSG00000141391:ENST00000589565:exon4:c.A116C:p.D39A;ENSG00000141391:ENST00000588729:exon5:c.A433C:p.I145L;ENSG00000141391:ENST00000587862:exon4:c.A355C:p.I119L;ENSG00000141391:ENST00000590956:exon3:c.A22C:p.I8L;ENSG00000141391:ENST00000592149:exon3:c.A229C:p.I77L;ENSG00000141391:ENST00000440960:exon4:c.A292C:p.I98L;	0.00124425562300561	0.042
18	12427040	A	G	18	12427041	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.A292G:p.I98V;SLMO1:NM_006553:exon4:c.A292G:p.I98V;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A229G:p.I77V;ENSG00000141391:ENST00000336990:exon4:c.A292G:p.I98V;ENSG00000141391:ENST00000587735:exon2:c.A22G:p.I8V;ENSG00000141391:ENST00000589565:exon4:c.A116G:p.D39G;ENSG00000141391:ENST00000588729:exon5:c.A433G:p.I145V;ENSG00000141391:ENST00000587862:exon4:c.A355G:p.I119V;ENSG00000141391:ENST00000590956:exon3:c.A22G:p.I8V;ENSG00000141391:ENST00000592149:exon3:c.A229G:p.I77V;ENSG00000141391:ENST00000440960:exon4:c.A292G:p.I98V;	0.0193216356641978	0.214
18	12427040	A	T	18	12427041	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.A292T:p.I98F;SLMO1:NM_006553:exon4:c.A292T:p.I98F;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A229T:p.I77F;ENSG00000141391:ENST00000336990:exon4:c.A292T:p.I98F;ENSG00000141391:ENST00000587735:exon2:c.A22T:p.I8F;ENSG00000141391:ENST00000589565:exon4:c.A116T:p.D39V;ENSG00000141391:ENST00000588729:exon5:c.A433T:p.I145F;ENSG00000141391:ENST00000587862:exon4:c.A355T:p.I119F;ENSG00000141391:ENST00000590956:exon3:c.A22T:p.I8F;ENSG00000141391:ENST00000592149:exon3:c.A229T:p.I77F;ENSG00000141391:ENST00000440960:exon4:c.A292T:p.I98F;	0.308401089467744	0.52
18	12427041	T	A	18	12427042	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.T293A:p.I98N;SLMO1:NM_006553:exon4:c.T293A:p.I98N;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.T230A:p.I77N;ENSG00000141391:ENST00000336990:exon4:c.T293A:p.I98N;ENSG00000141391:ENST00000587735:exon2:c.T23A:p.I8N;ENSG00000141391:ENST00000589565:exon4:c.T117A:p.D39E;ENSG00000141391:ENST00000588729:exon5:c.T434A:p.I145N;ENSG00000141391:ENST00000587862:exon4:c.T356A:p.I119N;ENSG00000141391:ENST00000590956:exon3:c.T23A:p.I8N;ENSG00000141391:ENST00000592149:exon3:c.T230A:p.I77N;ENSG00000141391:ENST00000440960:exon4:c.T293A:p.I98N;	0.285506068757246	0.584
18	12427041	T	C	18	12427042	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.T293C:p.I98T;SLMO1:NM_006553:exon4:c.T293C:p.I98T;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.T230C:p.I77T;ENSG00000141391:ENST00000336990:exon4:c.T293C:p.I98T;ENSG00000141391:ENST00000587735:exon2:c.T23C:p.I8T;ENSG00000141391:ENST00000588729:exon5:c.T434C:p.I145T;ENSG00000141391:ENST00000587862:exon4:c.T356C:p.I119T;ENSG00000141391:ENST00000590956:exon3:c.T23C:p.I8T;ENSG00000141391:ENST00000592149:exon3:c.T230C:p.I77T;ENSG00000141391:ENST00000440960:exon4:c.T293C:p.I98T;	0.274219614081854	0.478
18	12427041	T	G	18	12427042	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.T293G:p.I98S;SLMO1:NM_006553:exon4:c.T293G:p.I98S;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.T230G:p.I77S;ENSG00000141391:ENST00000336990:exon4:c.T293G:p.I98S;ENSG00000141391:ENST00000587735:exon2:c.T23G:p.I8S;ENSG00000141391:ENST00000589565:exon4:c.T117G:p.D39E;ENSG00000141391:ENST00000588729:exon5:c.T434G:p.I145S;ENSG00000141391:ENST00000587862:exon4:c.T356G:p.I119S;ENSG00000141391:ENST00000590956:exon3:c.T23G:p.I8S;ENSG00000141391:ENST00000592149:exon3:c.T230G:p.I77S;ENSG00000141391:ENST00000440960:exon4:c.T293G:p.I98S;	0.1987115774306	0.572
18	12427108	A	C	18	12427109	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.A360C:p.E120D;SLMO1:NM_006553:exon4:c.A360C:p.E120D;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A297C:p.E99D;ENSG00000141391:ENST00000336990:exon4:c.A360C:p.E120D;ENSG00000141391:ENST00000587735:exon2:c.A90C:p.E30D;ENSG00000141391:ENST00000587862:exon4:c.A423C:p.E141D;ENSG00000141391:ENST00000590956:exon3:c.A90C:p.E30D;ENSG00000141391:ENST00000592149:exon3:c.A297C:p.E99D;ENSG00000141391:ENST00000440960:exon4:c.A360C:p.E120D;	4.98353295706671E-5	0.002
18	12427108	A	G	18	12427109	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon4:c.A360G:p.E120E;SLMO1:NM_006553:exon4:c.A360G:p.E120E;	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A297G:p.E99E;ENSG00000141391:ENST00000336990:exon4:c.A360G:p.E120E;ENSG00000141391:ENST00000587735:exon2:c.A90G:p.E30E;ENSG00000141391:ENST00000587862:exon4:c.A423G:p.E141E;ENSG00000141391:ENST00000590956:exon3:c.A90G:p.E30E;ENSG00000141391:ENST00000592149:exon3:c.A297G:p.E99E;ENSG00000141391:ENST00000440960:exon4:c.A360G:p.E120E;	1.17233622375526E-4	0.0
18	12427108	A	T	18	12427109	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.A360T:p.E120D;SLMO1:NM_006553:exon4:c.A360T:p.E120D;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A297T:p.E99D;ENSG00000141391:ENST00000336990:exon4:c.A360T:p.E120D;ENSG00000141391:ENST00000587735:exon2:c.A90T:p.E30D;ENSG00000141391:ENST00000587862:exon4:c.A423T:p.E141D;ENSG00000141391:ENST00000590956:exon3:c.A90T:p.E30D;ENSG00000141391:ENST00000592149:exon3:c.A297T:p.E99D;ENSG00000141391:ENST00000440960:exon4:c.A360T:p.E120D;	0.00803762509555195	0.284
18	12427109	A	C	18	12427110	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.A361C:p.M121L;SLMO1:NM_006553:exon4:c.A361C:p.M121L;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A298C:p.M100L;ENSG00000141391:ENST00000336990:exon4:c.A361C:p.M121L;ENSG00000141391:ENST00000587735:exon2:c.A91C:p.M31L;ENSG00000141391:ENST00000587862:exon4:c.A424C:p.M142L;ENSG00000141391:ENST00000590956:exon3:c.A91C:p.M31L;ENSG00000141391:ENST00000592149:exon3:c.A298C:p.M100L;ENSG00000141391:ENST00000440960:exon4:c.A361C:p.M121L;	0.192863032824314	0.542
18	12427109	A	G	18	12427110	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.A361G:p.M121V;SLMO1:NM_006553:exon4:c.A361G:p.M121V;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A298G:p.M100V;ENSG00000141391:ENST00000336990:exon4:c.A361G:p.M121V;ENSG00000141391:ENST00000587735:exon2:c.A91G:p.M31V;ENSG00000141391:ENST00000587862:exon4:c.A424G:p.M142V;ENSG00000141391:ENST00000590956:exon3:c.A91G:p.M31V;ENSG00000141391:ENST00000592149:exon3:c.A298G:p.M100V;ENSG00000141391:ENST00000440960:exon4:c.A361G:p.M121V;	0.112383675448068	0.26
18	12427109	A	T	18	12427110	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.A361T:p.M121L;SLMO1:NM_006553:exon4:c.A361T:p.M121L;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.A298T:p.M100L;ENSG00000141391:ENST00000336990:exon4:c.A361T:p.M121L;ENSG00000141391:ENST00000587735:exon2:c.A91T:p.M31L;ENSG00000141391:ENST00000587862:exon4:c.A424T:p.M142L;ENSG00000141391:ENST00000590956:exon3:c.A91T:p.M31L;ENSG00000141391:ENST00000592149:exon3:c.A298T:p.M100L;ENSG00000141391:ENST00000440960:exon4:c.A361T:p.M121L;	0.278588507420114	0.556
18	12427110	T	A	18	12427111	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.T362A:p.M121K;SLMO1:NM_006553:exon4:c.T362A:p.M121K;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.T299A:p.M100K;ENSG00000141391:ENST00000336990:exon4:c.T362A:p.M121K;ENSG00000141391:ENST00000587735:exon2:c.T92A:p.M31K;ENSG00000141391:ENST00000587862:exon4:c.T425A:p.M142K;ENSG00000141391:ENST00000590956:exon3:c.T92A:p.M31K;ENSG00000141391:ENST00000592149:exon3:c.T299A:p.M100K;ENSG00000141391:ENST00000440960:exon4:c.T362A:p.M121K;	1.17635148016115E-5	0.0
18	12427110	T	C	18	12427111	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.T362C:p.M121T;SLMO1:NM_006553:exon4:c.T362C:p.M121T;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.T299C:p.M100T;ENSG00000141391:ENST00000336990:exon4:c.T362C:p.M121T;ENSG00000141391:ENST00000587735:exon2:c.T92C:p.M31T;ENSG00000141391:ENST00000587862:exon4:c.T425C:p.M142T;ENSG00000141391:ENST00000590956:exon3:c.T92C:p.M31T;ENSG00000141391:ENST00000592149:exon3:c.T299C:p.M100T;ENSG00000141391:ENST00000440960:exon4:c.T362C:p.M121T;	0.00164290630361305	0.258
18	12427110	T	G	18	12427111	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon4:c.T362G:p.M121R;SLMO1:NM_006553:exon4:c.T362G:p.M121R;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon4:c.T299G:p.M100R;ENSG00000141391:ENST00000336990:exon4:c.T362G:p.M121R;ENSG00000141391:ENST00000587735:exon2:c.T92G:p.M31R;ENSG00000141391:ENST00000587862:exon4:c.T425G:p.M142R;ENSG00000141391:ENST00000590956:exon3:c.T92G:p.M31R;ENSG00000141391:ENST00000592149:exon3:c.T299G:p.M100R;ENSG00000141391:ENST00000440960:exon4:c.T362G:p.M121R;	2.38485353348745E-4	0.136
18	12427111	G	A	18	12427112	y	y	splicing	SLMO1(NM_006553:exon4:c.362+1G>A;NM_001142405:exon4:c.362+1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.362+1G>A;ENST00000336990:exon4:c.362+1G>A;ENST00000590956:exon3:c.92+1G>A;ENST00000589565:exon4:c.186+1G>A;ENST00000589952:exon4:c.299+1G>A;ENST00000592149:exon3:c.299+1G>A;ENST00000587862:exon4:c.425+1G>A;ENST00000587735:exon2:c.92+1G>A)	.	.	0.999985532734767	0.936
18	12427111	G	C	18	12427112	y	y	splicing	SLMO1(NM_006553:exon4:c.362+1G>C;NM_001142405:exon4:c.362+1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.362+1G>C;ENST00000336990:exon4:c.362+1G>C;ENST00000590956:exon3:c.92+1G>C;ENST00000589565:exon4:c.186+1G>C;ENST00000589952:exon4:c.299+1G>C;ENST00000592149:exon3:c.299+1G>C;ENST00000587862:exon4:c.425+1G>C;ENST00000587735:exon2:c.92+1G>C)	.	.	0.999985532734767	0.934
18	12427111	G	T	18	12427112	y	y	splicing	SLMO1(NM_006553:exon4:c.362+1G>T;NM_001142405:exon4:c.362+1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.362+1G>T;ENST00000336990:exon4:c.362+1G>T;ENST00000590956:exon3:c.92+1G>T;ENST00000589565:exon4:c.186+1G>T;ENST00000589952:exon4:c.299+1G>T;ENST00000592149:exon3:c.299+1G>T;ENST00000587862:exon4:c.425+1G>T;ENST00000587735:exon2:c.92+1G>T)	.	.	0.999985532734767	0.936
18	12427112	T	A	18	12427113	y	y	splicing	SLMO1(NM_006553:exon4:c.362+2T>A;NM_001142405:exon4:c.362+2T>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.362+2T>A;ENST00000336990:exon4:c.362+2T>A;ENST00000590956:exon3:c.92+2T>A;ENST00000589565:exon4:c.186+2T>A;ENST00000589952:exon4:c.299+2T>A;ENST00000592149:exon3:c.299+2T>A;ENST00000587862:exon4:c.425+2T>A;ENST00000587735:exon2:c.92+2T>A)	.	.	0.999988247793601	0.926
18	12427112	T	C	18	12427113	y	y	splicing	SLMO1(NM_006553:exon4:c.362+2T>C;NM_001142405:exon4:c.362+2T>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.362+2T>C;ENST00000336990:exon4:c.362+2T>C;ENST00000590956:exon3:c.92+2T>C;ENST00000589565:exon4:c.186+2T>C;ENST00000589952:exon4:c.299+2T>C;ENST00000592149:exon3:c.299+2T>C;ENST00000587862:exon4:c.425+2T>C;ENST00000587735:exon2:c.92+2T>C)	.	.	0.999929727175276	0.858
18	12427112	T	G	18	12427113	y	y	splicing	SLMO1(NM_006553:exon4:c.362+2T>G;NM_001142405:exon4:c.362+2T>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon4:c.362+2T>G;ENST00000336990:exon4:c.362+2T>G;ENST00000590956:exon3:c.92+2T>G;ENST00000589565:exon4:c.186+2T>G;ENST00000589952:exon4:c.299+2T>G;ENST00000592149:exon3:c.299+2T>G;ENST00000587862:exon4:c.425+2T>G;ENST00000587735:exon2:c.92+2T>G)	.	.	0.999988247793601	0.926
18	12427113	G	A	18	12427114	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.60041875085967E-5	0.0
18	12427113	G	C	18	12427114	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.95387598484975	0.496
18	12427113	G	T	18	12427114	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.982039522680155	0.43
18	12427114	A	C	18	12427115	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.84545213604444	0.64
18	12427114	A	G	18	12427115	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.986941472590072	0.852
18	12427114	A	T	18	12427115	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.996214441735634	0.854
18	12427115	G	A	18	12427116	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999980666655472	0.978
18	12427115	G	C	18	12427116	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999340930804011	0.94
18	12427115	G	T	18	12427116	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999976706557451	0.986
18	12427116	T	A	18	12427117	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.362052067131491	0.604
18	12427116	T	C	18	12427117	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.199747878616983	0.314
18	12427116	T	G	18	12427117	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.569430555922331	0.574
18	12427117	C	A	18	12427118	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.78572553276416E-5	0.0
18	12427117	C	G	18	12427118	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.88638897851044E-6	0.002
18	12427117	C	T	18	12427118	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	5.55070419144293E-5	0.018
18	12427118	A	C	18	12427119	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.49349333464341E-5	0.004
18	12427118	A	G	18	12427119	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.3519283322177E-6	0.0
18	12427118	A	T	18	12427119	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.3519283322177E-6	0.0
18	12427208	G	A	18	12427209	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	8.40440567267336E-5	0.014
18	12427208	G	C	18	12427209	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	8.04589778499259E-5	0.002
18	12427208	G	T	18	12427209	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.49564993248928E-5	0.0
18	12427209	C	A	18	12427210	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.85260572893538E-5	0.022
18	12427209	C	G	18	12427210	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.03721022283608E-4	0.01
18	12427209	C	T	18	12427210	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	5.10464352928187E-5	0.0
18	12427210	T	A	18	12427211	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	5.86722496503968E-4	0.154
18	12427210	T	C	18	12427211	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.23622885577959E-4	0.002
18	12427210	T	G	18	12427211	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.13172717853827E-4	0.12
18	12427211	C	A	18	12427212	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.87669282741966E-4	0.032
18	12427211	C	G	18	12427212	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.48628559821867E-5	0.018
18	12427211	C	T	18	12427212	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.29203489347423E-5	0.002
18	12427212	T	A	18	12427213	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.3134913029609E-4	0.074
18	12427212	T	C	18	12427213	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.00892542581489E-4	0.008
18	12427212	T	G	18	12427213	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.26859113949393E-4	0.052
18	12427213	T	A	18	12427214	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.81813537130293E-5	0.002
18	12427213	T	C	18	12427214	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.00407949478179E-5	0.0
18	12427213	T	G	18	12427214	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.9795099710469E-5	0.004
18	12427214	T	A	18	12427215	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	6.45662306726068E-4	0.058
18	12427214	T	C	18	12427215	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.78366192863092E-5	0.006
18	12427214	T	G	18	12427215	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.97221357187704E-4	0.054
18	12427215	T	A	18	12427216	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.815998983759507	0.788
18	12427215	T	C	18	12427216	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.96112157263291E-5	0.0
18	12427215	T	G	18	12427216	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00107665370575666	0.11
18	12427216	G	A	18	12427217	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.21246955661481E-5	0.0
18	12427216	G	C	18	12427217	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.28214256743932E-6	0.012
18	12427216	G	T	18	12427217	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.98462810771482E-6	0.0
18	12427217	C	A	18	12427218	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0487085236237872	0.318
18	12427217	C	G	18	12427218	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.998939436730159	0.796
18	12427217	C	T	18	12427218	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.77391156089021E-4	0.042
18	12427218	A	C	18	12427219	y	y	splicing	SLMO1(NM_006553:exon5:c.363-2A>C;NM_001142405:exon5:c.363-2A>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.363-2A>C;ENST00000336990:exon5:c.363-2A>C;ENST00000590956:exon4:c.93-2A>C;ENST00000589565:exon5:c.187-2A>C;ENST00000589952:exon5:c.300-2A>C;ENST00000592149:exon4:c.300-2A>C;ENST00000587862:exon5:c.426-2A>C;ENST00000587735:exon3:c.93-2A>C)	.	.	0.999971317418422	0.892
18	12427218	A	G	18	12427219	y	y	splicing	SLMO1(NM_006553:exon5:c.363-2A>G;NM_001142405:exon5:c.363-2A>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.363-2A>G;ENST00000336990:exon5:c.363-2A>G;ENST00000590956:exon4:c.93-2A>G;ENST00000589565:exon5:c.187-2A>G;ENST00000589952:exon5:c.300-2A>G;ENST00000592149:exon4:c.300-2A>G;ENST00000587862:exon5:c.426-2A>G;ENST00000587735:exon3:c.93-2A>G)	.	.	0.999971317418422	0.892
18	12427218	A	T	18	12427219	y	y	splicing	SLMO1(NM_006553:exon5:c.363-2A>T;NM_001142405:exon5:c.363-2A>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.363-2A>T;ENST00000336990:exon5:c.363-2A>T;ENST00000590956:exon4:c.93-2A>T;ENST00000589565:exon5:c.187-2A>T;ENST00000589952:exon5:c.300-2A>T;ENST00000592149:exon4:c.300-2A>T;ENST00000587862:exon5:c.426-2A>T;ENST00000587735:exon3:c.93-2A>T)	.	.	0.999963671976247	0.928
18	12427219	G	A	18	12427220	y	y	splicing	SLMO1(NM_006553:exon5:c.363-1G>A;NM_001142405:exon5:c.363-1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.363-1G>A;ENST00000336990:exon5:c.363-1G>A;ENST00000590956:exon4:c.93-1G>A;ENST00000589565:exon5:c.187-1G>A;ENST00000589952:exon5:c.300-1G>A;ENST00000592149:exon4:c.300-1G>A;ENST00000587862:exon5:c.426-1G>A;ENST00000587735:exon3:c.93-1G>A)	.	.	0.999933757597683	0.94
18	12427219	G	C	18	12427220	y	y	splicing	SLMO1(NM_006553:exon5:c.363-1G>C;NM_001142405:exon5:c.363-1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.363-1G>C;ENST00000336990:exon5:c.363-1G>C;ENST00000590956:exon4:c.93-1G>C;ENST00000589565:exon5:c.187-1G>C;ENST00000589952:exon5:c.300-1G>C;ENST00000592149:exon4:c.300-1G>C;ENST00000587862:exon5:c.426-1G>C;ENST00000587735:exon3:c.93-1G>C)	.	.	0.999956786857988	0.938
18	12427219	G	T	18	12427220	y	y	splicing	SLMO1(NM_006553:exon5:c.363-1G>T;NM_001142405:exon5:c.363-1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.363-1G>T;ENST00000336990:exon5:c.363-1G>T;ENST00000590956:exon4:c.93-1G>T;ENST00000589565:exon5:c.187-1G>T;ENST00000589952:exon5:c.300-1G>T;ENST00000592149:exon4:c.300-1G>T;ENST00000587862:exon5:c.426-1G>T;ENST00000587735:exon3:c.93-1G>T)	.	.	0.999956786857988	0.938
18	12427220	G	A	18	12427221	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.G363A:p.M121I;SLMO1:NM_006553:exon5:c.G363A:p.M121I;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon5:c.G300A:p.M100I;ENSG00000141391:ENST00000336990:exon5:c.G363A:p.M121I;ENSG00000141391:ENST00000587735:exon3:c.G93A:p.M31I;ENSG00000141391:ENST00000587862:exon5:c.G426A:p.M142I;ENSG00000141391:ENST00000590956:exon4:c.G93A:p.M31I;ENSG00000141391:ENST00000592149:exon4:c.G300A:p.M100I;ENSG00000141391:ENST00000440960:exon5:c.G363A:p.M121I;	0.00922228965528923	0.318
18	12427220	G	C	18	12427221	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.G363C:p.M121I;SLMO1:NM_006553:exon5:c.G363C:p.M121I;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon5:c.G300C:p.M100I;ENSG00000141391:ENST00000336990:exon5:c.G363C:p.M121I;ENSG00000141391:ENST00000587735:exon3:c.G93C:p.M31I;ENSG00000141391:ENST00000587862:exon5:c.G426C:p.M142I;ENSG00000141391:ENST00000590956:exon4:c.G93C:p.M31I;ENSG00000141391:ENST00000592149:exon4:c.G300C:p.M100I;ENSG00000141391:ENST00000440960:exon5:c.G363C:p.M121I;	0.0434365517026205	0.348
18	12427220	G	T	18	12427221	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.G363T:p.M121I;SLMO1:NM_006553:exon5:c.G363T:p.M121I;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon5:c.G300T:p.M100I;ENSG00000141391:ENST00000336990:exon5:c.G363T:p.M121I;ENSG00000141391:ENST00000587735:exon3:c.G93T:p.M31I;ENSG00000141391:ENST00000587862:exon5:c.G426T:p.M142I;ENSG00000141391:ENST00000590956:exon4:c.G93T:p.M31I;ENSG00000141391:ENST00000592149:exon4:c.G300T:p.M100I;ENSG00000141391:ENST00000440960:exon5:c.G363T:p.M121I;	0.215387654344748	0.46
18	12427221	A	C	18	12427222	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.A364C:p.T122P;SLMO1:NM_006553:exon5:c.A364C:p.T122P;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon5:c.A301C:p.T101P;ENSG00000141391:ENST00000336990:exon5:c.A364C:p.T122P;ENSG00000141391:ENST00000587735:exon3:c.A94C:p.T32P;ENSG00000141391:ENST00000587862:exon5:c.A427C:p.T143P;ENSG00000141391:ENST00000590956:exon4:c.A94C:p.T32P;ENSG00000141391:ENST00000592149:exon4:c.A301C:p.T101P;ENSG00000141391:ENST00000440960:exon5:c.A364C:p.T122P;	0.774348909066649	0.79
18	12427221	A	G	18	12427222	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.A364G:p.T122A;SLMO1:NM_006553:exon5:c.A364G:p.T122A;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon5:c.A301G:p.T101A;ENSG00000141391:ENST00000336990:exon5:c.A364G:p.T122A;ENSG00000141391:ENST00000587735:exon3:c.A94G:p.T32A;ENSG00000141391:ENST00000587862:exon5:c.A427G:p.T143A;ENSG00000141391:ENST00000590956:exon4:c.A94G:p.T32A;ENSG00000141391:ENST00000592149:exon4:c.A301G:p.T101A;ENSG00000141391:ENST00000440960:exon5:c.A364G:p.T122A;	0.766373640372421	0.646
18	12427221	A	T	18	12427222	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.A364T:p.T122S;SLMO1:NM_006553:exon5:c.A364T:p.T122S;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000589952:exon5:c.A301T:p.T101S;ENSG00000141391:ENST00000336990:exon5:c.A364T:p.T122S;ENSG00000141391:ENST00000587735:exon3:c.A94T:p.T32S;ENSG00000141391:ENST00000587862:exon5:c.A427T:p.T143S;ENSG00000141391:ENST00000590956:exon4:c.A94T:p.T32S;ENSG00000141391:ENST00000592149:exon4:c.A301T:p.T101S;ENSG00000141391:ENST00000440960:exon5:c.A364T:p.T122S;	0.709785300124568	0.742
18	12427320	A	C	18	12427321	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.A463C:p.K155Q;SLMO1:NM_006553:exon5:c.A463C:p.K155Q;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon5:c.A463C:p.K155Q;ENSG00000141391:ENST00000587735:exon3:c.A193C:p.K65Q;ENSG00000141391:ENST00000587862:exon5:c.A526C:p.K176Q;ENSG00000141391:ENST00000590956:exon4:c.A193C:p.K65Q;ENSG00000141391:ENST00000592149:exon4:c.A400C:p.K134Q;ENSG00000141391:ENST00000440960:exon5:c.A463C:p.K155Q;	0.649208772477965	0.662
18	12427320	A	G	18	12427321	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.A463G:p.K155E;SLMO1:NM_006553:exon5:c.A463G:p.K155E;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon5:c.A463G:p.K155E;ENSG00000141391:ENST00000587735:exon3:c.A193G:p.K65E;ENSG00000141391:ENST00000587862:exon5:c.A526G:p.K176E;ENSG00000141391:ENST00000590956:exon4:c.A193G:p.K65E;ENSG00000141391:ENST00000592149:exon4:c.A400G:p.K134E;ENSG00000141391:ENST00000440960:exon5:c.A463G:p.K155E;	0.301065481589377	0.42
18	12427320	A	T	18	12427321	y	y	exonic	SLMO1	stopgain SNV	SLMO1:NM_001142405:exon5:c.A463T:p.K155X;SLMO1:NM_006553:exon5:c.A463T:p.K155X;	exonic	ENSG00000141391	stopgain SNV	ENSG00000141391:ENST00000336990:exon5:c.A463T:p.K155X;ENSG00000141391:ENST00000587735:exon3:c.A193T:p.K65X;ENSG00000141391:ENST00000587862:exon5:c.A526T:p.K176X;ENSG00000141391:ENST00000590956:exon4:c.A193T:p.K65X;ENSG00000141391:ENST00000592149:exon4:c.A400T:p.K134X;ENSG00000141391:ENST00000440960:exon5:c.A463T:p.K155X;	0.960438436491928	0.668
18	12427321	A	C	18	12427322	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.A464C:p.K155T;SLMO1:NM_006553:exon5:c.A464C:p.K155T;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon5:c.A464C:p.K155T;ENSG00000141391:ENST00000587735:exon3:c.A194C:p.K65T;ENSG00000141391:ENST00000587862:exon5:c.A527C:p.K176T;ENSG00000141391:ENST00000590956:exon4:c.A194C:p.K65T;ENSG00000141391:ENST00000592149:exon4:c.A401C:p.K134T;ENSG00000141391:ENST00000440960:exon5:c.A464C:p.K155T;	0.444445137189373	0.666
18	12427321	A	G	18	12427322	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.A464G:p.K155R;SLMO1:NM_006553:exon5:c.A464G:p.K155R;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon5:c.A464G:p.K155R;ENSG00000141391:ENST00000587735:exon3:c.A194G:p.K65R;ENSG00000141391:ENST00000587862:exon5:c.A527G:p.K176R;ENSG00000141391:ENST00000590956:exon4:c.A194G:p.K65R;ENSG00000141391:ENST00000592149:exon4:c.A401G:p.K134R;ENSG00000141391:ENST00000440960:exon5:c.A464G:p.K155R;	0.688690801114966	0.616
18	12427321	A	T	18	12427322	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.A464T:p.K155M;SLMO1:NM_006553:exon5:c.A464T:p.K155M;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon5:c.A464T:p.K155M;ENSG00000141391:ENST00000587735:exon3:c.A194T:p.K65M;ENSG00000141391:ENST00000587862:exon5:c.A527T:p.K176M;ENSG00000141391:ENST00000590956:exon4:c.A194T:p.K65M;ENSG00000141391:ENST00000592149:exon4:c.A401T:p.K134M;ENSG00000141391:ENST00000440960:exon5:c.A464T:p.K155M;	0.579055120746588	0.626
18	12427322	G	A	18	12427323	y	y	exonic	SLMO1	synonymous SNV	SLMO1:NM_001142405:exon5:c.G465A:p.K155K;SLMO1:NM_006553:exon5:c.G465A:p.K155K;	exonic	ENSG00000141391	synonymous SNV	ENSG00000141391:ENST00000336990:exon5:c.G465A:p.K155K;ENSG00000141391:ENST00000587735:exon3:c.G195A:p.K65K;ENSG00000141391:ENST00000587862:exon5:c.G528A:p.K176K;ENSG00000141391:ENST00000590956:exon4:c.G195A:p.K65K;ENSG00000141391:ENST00000592149:exon4:c.G402A:p.K134K;ENSG00000141391:ENST00000440960:exon5:c.G465A:p.K155K;	0.977258506665913	0.784
18	12427322	G	C	18	12427323	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.G465C:p.K155N;SLMO1:NM_006553:exon5:c.G465C:p.K155N;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon5:c.G465C:p.K155N;ENSG00000141391:ENST00000587735:exon3:c.G195C:p.K65N;ENSG00000141391:ENST00000587862:exon5:c.G528C:p.K176N;ENSG00000141391:ENST00000590956:exon4:c.G195C:p.K65N;ENSG00000141391:ENST00000592149:exon4:c.G402C:p.K134N;ENSG00000141391:ENST00000440960:exon5:c.G465C:p.K155N;	0.999838799461364	0.98
18	12427322	G	T	18	12427323	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon5:c.G465T:p.K155N;SLMO1:NM_006553:exon5:c.G465T:p.K155N;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon5:c.G465T:p.K155N;ENSG00000141391:ENST00000587735:exon3:c.G195T:p.K65N;ENSG00000141391:ENST00000587862:exon5:c.G528T:p.K176N;ENSG00000141391:ENST00000590956:exon4:c.G195T:p.K65N;ENSG00000141391:ENST00000592149:exon4:c.G402T:p.K134N;ENSG00000141391:ENST00000440960:exon5:c.G465T:p.K155N;	0.999466926522477	0.956
18	12427323	G	A	18	12427324	y	y	splicing	SLMO1(NM_006553:exon5:c.465+1G>A;NM_001142405:exon5:c.465+1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.465+1G>A;ENST00000336990:exon5:c.465+1G>A;ENST00000590956:exon4:c.195+1G>A;ENST00000589565:exon5:c.289+1G>A;ENST00000592149:exon4:c.402+1G>A;ENST00000587862:exon5:c.528+1G>A;ENST00000587735:exon3:c.195+1G>A)	.	.	0.999985532734767	0.934
18	12427323	G	C	18	12427324	y	y	splicing	SLMO1(NM_006553:exon5:c.465+1G>C;NM_001142405:exon5:c.465+1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.465+1G>C;ENST00000336990:exon5:c.465+1G>C;ENST00000590956:exon4:c.195+1G>C;ENST00000589565:exon5:c.289+1G>C;ENST00000592149:exon4:c.402+1G>C;ENST00000587862:exon5:c.528+1G>C;ENST00000587735:exon3:c.195+1G>C)	.	.	0.999985532734767	0.934
18	12427323	G	T	18	12427324	y	y	splicing	SLMO1(NM_006553:exon5:c.465+1G>T;NM_001142405:exon5:c.465+1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.465+1G>T;ENST00000336990:exon5:c.465+1G>T;ENST00000590956:exon4:c.195+1G>T;ENST00000589565:exon5:c.289+1G>T;ENST00000592149:exon4:c.402+1G>T;ENST00000587862:exon5:c.528+1G>T;ENST00000587735:exon3:c.195+1G>T)	.	.	0.999985532734767	0.934
18	12427324	T	A	18	12427325	y	y	splicing	SLMO1(NM_006553:exon5:c.465+2T>A;NM_001142405:exon5:c.465+2T>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.465+2T>A;ENST00000336990:exon5:c.465+2T>A;ENST00000590956:exon4:c.195+2T>A;ENST00000589565:exon5:c.289+2T>A;ENST00000592149:exon4:c.402+2T>A;ENST00000587862:exon5:c.528+2T>A;ENST00000587735:exon3:c.195+2T>A)	.	.	0.999978156327223	0.932
18	12427324	T	C	18	12427325	y	y	splicing	SLMO1(NM_006553:exon5:c.465+2T>C;NM_001142405:exon5:c.465+2T>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.465+2T>C;ENST00000336990:exon5:c.465+2T>C;ENST00000590956:exon4:c.195+2T>C;ENST00000589565:exon5:c.289+2T>C;ENST00000592149:exon4:c.402+2T>C;ENST00000587862:exon5:c.528+2T>C;ENST00000587735:exon3:c.195+2T>C)	.	.	0.976001245189567	0.59
18	12427324	T	G	18	12427325	y	y	splicing	SLMO1(NM_006553:exon5:c.465+2T>G;NM_001142405:exon5:c.465+2T>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon5:c.465+2T>G;ENST00000336990:exon5:c.465+2T>G;ENST00000590956:exon4:c.195+2T>G;ENST00000589565:exon5:c.289+2T>G;ENST00000592149:exon4:c.402+2T>G;ENST00000587862:exon5:c.528+2T>G;ENST00000587735:exon3:c.195+2T>G)	.	.	0.99997739437695	0.93
18	12427325	A	C	18	12427326	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.758883972430189	0.53
18	12427325	A	G	18	12427326	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0107132851713842	0.362
18	12427325	A	T	18	12427326	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.338338893675937	0.55
18	12427326	T	A	18	12427327	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.05302743177127E-5	0.018
18	12427326	T	C	18	12427327	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.53408128394729E-5	0.0
18	12427326	T	G	18	12427327	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.54069679699171E-5	0.0
18	12427327	G	A	18	12427328	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.171742850597623	0.31
18	12427327	G	C	18	12427328	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.235813163071798	0.392
18	12427327	G	T	18	12427328	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.227290552226124	0.322
18	12427328	T	A	18	12427329	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0011473670677013	0.04
18	12427328	T	C	18	12427329	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00148527651854815	0.068
18	12427328	T	G	18	12427329	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.39634775092467E-4	0.054
18	12427329	A	C	18	12427330	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.42572816600091E-5	0.0
18	12427329	A	G	18	12427330	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.96260731590036E-5	0.0
18	12427329	A	T	18	12427330	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.96260731590036E-5	0.0
18	12427330	T	A	18	12427331	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.43669692564833E-5	0.006
18	12427330	T	C	18	12427331	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.01209109375653E-5	0.002
18	12427330	T	G	18	12427331	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.31728475292647E-5	0.0
18	12429337	T	A	18	12429338	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.740365004727871	0.552
18	12429337	T	C	18	12429338	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00402379809302195	0.066
18	12429337	T	G	18	12429338	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.541384992433576	0.484
18	12429338	C	A	18	12429339	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00178780572056264	0.112
18	12429338	C	G	18	12429339	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.5943776371481E-4	0.01
18	12429338	C	T	18	12429339	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.05398164103226E-5	0.0
18	12429339	T	A	18	12429340	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999943799384729	0.95
18	12429339	T	C	18	12429340	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00700539736973608	0.128
18	12429339	T	G	18	12429340	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.910526311866264	0.748
18	12429340	G	A	18	12429341	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00331424433634516	0.072
18	12429340	G	C	18	12429341	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	8.11118535102585E-4	0.002
18	12429340	G	T	18	12429341	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.03698070742378E-4	0.012
18	12429341	T	A	18	12429342	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999957372180843	0.972
18	12429341	T	C	18	12429342	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00153684180966018	0.09
18	12429341	T	G	18	12429342	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.147074892356095	0.392
18	12429342	G	A	18	12429343	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.90519961471886E-5	0.0
18	12429342	G	C	18	12429343	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	7.49331325120272E-6	0.0
18	12429342	G	T	18	12429343	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.3072681952199E-6	0.0
18	12429343	T	A	18	12429344	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.103497260724276	0.32
18	12429343	T	C	18	12429344	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.00659631929452E-4	0.004
18	12429343	T	G	18	12429344	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0688359925600549	0.312
18	12429344	T	A	18	12429345	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999819315941302	0.944
18	12429344	T	C	18	12429345	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0128497097280997	0.106
18	12429344	T	G	18	12429345	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.630667437621271	0.54
18	12429345	G	A	18	12429346	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.23637350569959E-4	0.0
18	12429345	G	C	18	12429346	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.48536163760458E-4	0.004
18	12429345	G	T	18	12429346	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.38952171812223E-4	0.002
18	12429346	C	A	18	12429347	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.978018482980442	0.622
18	12429346	C	G	18	12429347	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999895961260369	0.94
18	12429346	C	T	18	12429347	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00864009238284432	0.224
18	12429347	A	C	18	12429348	y	y	splicing	SLMO1(NM_006553:exon6:c.466-2A>C;NM_001142405:exon6:c.466-2A>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.466-2A>C;ENST00000336990:exon6:c.466-2A>C;ENST00000590956:exon5:c.196-2A>C;ENST00000589565:exon6:c.290-2A>C;ENST00000592149:exon5:c.403-2A>C;ENST00000587862:exon6:c.529-2A>C;ENST00000587735:exon4:c.196-2A>C)	.	.	0.9999784785434	0.946
18	12429347	A	G	18	12429348	y	y	splicing	SLMO1(NM_006553:exon6:c.466-2A>G;NM_001142405:exon6:c.466-2A>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.466-2A>G;ENST00000336990:exon6:c.466-2A>G;ENST00000590956:exon5:c.196-2A>G;ENST00000589565:exon6:c.290-2A>G;ENST00000592149:exon5:c.403-2A>G;ENST00000587862:exon6:c.529-2A>G;ENST00000587735:exon4:c.196-2A>G)	.	.	0.9999784785434	0.946
18	12429347	A	T	18	12429348	y	y	splicing	SLMO1(NM_006553:exon6:c.466-2A>T;NM_001142405:exon6:c.466-2A>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.466-2A>T;ENST00000336990:exon6:c.466-2A>T;ENST00000590956:exon5:c.196-2A>T;ENST00000589565:exon6:c.290-2A>T;ENST00000592149:exon5:c.403-2A>T;ENST00000587862:exon6:c.529-2A>T;ENST00000587735:exon4:c.196-2A>T)	.	.	0.999978278263889	0.944
18	12429348	G	A	18	12429349	y	y	splicing	SLMO1(NM_006553:exon6:c.466-1G>A;NM_001142405:exon6:c.466-1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.466-1G>A;ENST00000336990:exon6:c.466-1G>A;ENST00000590956:exon5:c.196-1G>A;ENST00000589565:exon6:c.290-1G>A;ENST00000592149:exon5:c.403-1G>A;ENST00000587862:exon6:c.529-1G>A;ENST00000587735:exon4:c.196-1G>A)	.	.	0.99994568797423	0.938
18	12429348	G	C	18	12429349	y	y	splicing	SLMO1(NM_006553:exon6:c.466-1G>C;NM_001142405:exon6:c.466-1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.466-1G>C;ENST00000336990:exon6:c.466-1G>C;ENST00000590956:exon5:c.196-1G>C;ENST00000589565:exon6:c.290-1G>C;ENST00000592149:exon5:c.403-1G>C;ENST00000587862:exon6:c.529-1G>C;ENST00000587735:exon4:c.196-1G>C)	.	.	0.99994568797423	0.944
18	12429348	G	T	18	12429349	y	y	splicing	SLMO1(NM_006553:exon6:c.466-1G>T;NM_001142405:exon6:c.466-1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.466-1G>T;ENST00000336990:exon6:c.466-1G>T;ENST00000590956:exon5:c.196-1G>T;ENST00000589565:exon6:c.290-1G>T;ENST00000592149:exon5:c.403-1G>T;ENST00000587862:exon6:c.529-1G>T;ENST00000587735:exon4:c.196-1G>T)	.	.	0.99994568797423	0.944
18	12429349	G	A	18	12429350	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon6:c.G466A:p.G156R;SLMO1:NM_006553:exon6:c.G466A:p.G156R;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon6:c.G466A:p.G156R;ENSG00000141391:ENST00000587735:exon4:c.G196A:p.G66R;ENSG00000141391:ENST00000587862:exon6:c.G529A:p.G177R;ENSG00000141391:ENST00000590956:exon5:c.G196A:p.G66R;ENSG00000141391:ENST00000592149:exon5:c.G403A:p.G135R;ENSG00000141391:ENST00000440960:exon6:c.G466A:p.G156R;	0.995903595801895	0.79
18	12429349	G	C	18	12429350	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon6:c.G466C:p.G156R;SLMO1:NM_006553:exon6:c.G466C:p.G156R;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon6:c.G466C:p.G156R;ENSG00000141391:ENST00000587735:exon4:c.G196C:p.G66R;ENSG00000141391:ENST00000587862:exon6:c.G529C:p.G177R;ENSG00000141391:ENST00000590956:exon5:c.G196C:p.G66R;ENSG00000141391:ENST00000592149:exon5:c.G403C:p.G135R;ENSG00000141391:ENST00000440960:exon6:c.G466C:p.G156R;	0.995644365015186	0.824
18	12429349	G	T	18	12429350	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon6:c.G466T:p.G156W;SLMO1:NM_006553:exon6:c.G466T:p.G156W;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon6:c.G466T:p.G156W;ENSG00000141391:ENST00000587735:exon4:c.G196T:p.G66W;ENSG00000141391:ENST00000587862:exon6:c.G529T:p.G177W;ENSG00000141391:ENST00000590956:exon5:c.G196T:p.G66W;ENSG00000141391:ENST00000592149:exon5:c.G403T:p.G135W;ENSG00000141391:ENST00000440960:exon6:c.G466T:p.G156W;	0.999170238559516	0.936
18	12429350	G	A	18	12429351	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon6:c.G467A:p.G156E;SLMO1:NM_006553:exon6:c.G467A:p.G156E;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon6:c.G467A:p.G156E;ENSG00000141391:ENST00000587735:exon4:c.G197A:p.G66E;ENSG00000141391:ENST00000587862:exon6:c.G530A:p.G177E;ENSG00000141391:ENST00000590956:exon5:c.G197A:p.G66E;ENSG00000141391:ENST00000592149:exon5:c.G404A:p.G135E;ENSG00000141391:ENST00000440960:exon6:c.G467A:p.G156E;	0.918412822673607	0.544
18	12429350	G	C	18	12429351	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon6:c.G467C:p.G156A;SLMO1:NM_006553:exon6:c.G467C:p.G156A;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon6:c.G467C:p.G156A;ENSG00000141391:ENST00000587735:exon4:c.G197C:p.G66A;ENSG00000141391:ENST00000587862:exon6:c.G530C:p.G177A;ENSG00000141391:ENST00000590956:exon5:c.G197C:p.G66A;ENSG00000141391:ENST00000592149:exon5:c.G404C:p.G135A;ENSG00000141391:ENST00000440960:exon6:c.G467C:p.G156A;	0.928569250963158	0.7
18	12429350	G	T	18	12429351	y	y	exonic	SLMO1	nonsynonymous SNV	SLMO1:NM_001142405:exon6:c.G467T:p.G156V;SLMO1:NM_006553:exon6:c.G467T:p.G156V;	exonic	ENSG00000141391	nonsynonymous SNV	ENSG00000141391:ENST00000336990:exon6:c.G467T:p.G156V;ENSG00000141391:ENST00000587735:exon4:c.G197T:p.G66V;ENSG00000141391:ENST00000587862:exon6:c.G530T:p.G177V;ENSG00000141391:ENST00000590956:exon5:c.G197T:p.G66V;ENSG00000141391:ENST00000592149:exon5:c.G404T:p.G135V;ENSG00000141391:ENST00000440960:exon6:c.G467T:p.G156V;	0.946836968241585	0.698
18	12429430	A	C	18	12429431	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	1.35796249570327E-4	0.0
18	12429430	A	G	18	12429431	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	6.585416616557E-5	0.0
18	12429430	A	T	18	12429431	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	7.26824569549532E-5	0.0
18	12429431	T	A	18	12429432	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	2.93790074969979E-5	0.002
18	12429431	T	C	18	12429432	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	4.24969046825347E-5	0.0
18	12429431	T	G	18	12429432	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	5.38998041968487E-5	0.0
18	12429432	G	A	18	12429433	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	1.55869924932381E-5	0.0
18	12429432	G	C	18	12429433	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	2.30691927753517E-5	0.0
18	12429432	G	T	18	12429433	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	2.48921740173532E-5	0.0
18	12429433	G	A	18	12429434	y	y	splicing	SLMO1(NM_006553:exon6:c.549+1G>A)	.	.	splicing	ENSG00000141391(ENST00000336990:exon6:c.549+1G>A;ENST00000589565:exon6:c.373+1G>A)	.	.	1.5860637841959E-4	0.002
18	12429433	G	C	18	12429434	y	y	splicing	SLMO1(NM_006553:exon6:c.549+1G>C)	.	.	splicing	ENSG00000141391(ENST00000336990:exon6:c.549+1G>C;ENST00000589565:exon6:c.373+1G>C)	.	.	1.7534445023534E-4	0.006
18	12429433	G	T	18	12429434	y	y	splicing	SLMO1(NM_006553:exon6:c.549+1G>T)	.	.	splicing	ENSG00000141391(ENST00000336990:exon6:c.549+1G>T;ENST00000589565:exon6:c.373+1G>T)	.	.	0.00113586218112782	0.05
18	12429434	T	A	18	12429435	y	y	splicing	SLMO1(NM_006553:exon6:c.549+2T>A)	.	.	splicing	ENSG00000141391(ENST00000336990:exon6:c.549+2T>A;ENST00000589565:exon6:c.373+2T>A)	.	.	4.34561857452342E-5	0.07
18	12429434	T	C	18	12429435	y	y	splicing	SLMO1(NM_006553:exon6:c.549+2T>C)	.	.	splicing	ENSG00000141391(ENST00000336990:exon6:c.549+2T>C;ENST00000589565:exon6:c.373+2T>C)	.	.	5.54964092431284E-5	0.0
18	12429434	T	G	18	12429435	y	y	splicing	SLMO1(NM_006553:exon6:c.549+2T>G)	.	.	splicing	ENSG00000141391(ENST00000336990:exon6:c.549+2T>G;ENST00000589565:exon6:c.373+2T>G)	.	.	7.68711581680124E-5	0.0
18	12429435	G	A	18	12429436	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	0.996891859589504	0.92
18	12429435	G	C	18	12429436	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	0.998824628656067	0.75
18	12429435	G	T	18	12429436	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	0.994896926331349	0.794
18	12429436	G	A	18	12429437	y	y	splicing	SLMO1(NM_001142405:exon6:c.552+1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.552+1G>A;ENST00000590956:exon5:c.282+1G>A;ENST00000592149:exon5:c.489+1G>A;ENST00000587735:exon4:c.282+1G>A)	.	.	0.999939583170295	0.932
18	12429436	G	C	18	12429437	y	y	splicing	SLMO1(NM_001142405:exon6:c.552+1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.552+1G>C;ENST00000590956:exon5:c.282+1G>C;ENST00000592149:exon5:c.489+1G>C;ENST00000587735:exon4:c.282+1G>C)	.	.	0.99992617752697	0.932
18	12429436	G	T	18	12429437	y	y	splicing	SLMO1(NM_001142405:exon6:c.552+1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.552+1G>T;ENST00000590956:exon5:c.282+1G>T;ENST00000592149:exon5:c.489+1G>T;ENST00000587735:exon4:c.282+1G>T)	.	.	0.99992617752697	0.932
18	12429437	T	A	18	12429438	y	y	splicing	SLMO1(NM_001142405:exon6:c.552+2T>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.552+2T>A;ENST00000590956:exon5:c.282+2T>A;ENST00000592149:exon5:c.489+2T>A;ENST00000587735:exon4:c.282+2T>A)	.	.	0.999964721655813	0.844
18	12429437	T	C	18	12429438	y	y	splicing	SLMO1(NM_001142405:exon6:c.552+2T>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.552+2T>C;ENST00000590956:exon5:c.282+2T>C;ENST00000592149:exon5:c.489+2T>C;ENST00000587735:exon4:c.282+2T>C)	.	.	0.999560702494343	0.852
18	12429437	T	G	18	12429438	y	y	splicing	SLMO1(NM_001142405:exon6:c.552+2T>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon6:c.552+2T>G;ENST00000590956:exon5:c.282+2T>G;ENST00000592149:exon5:c.489+2T>G;ENST00000587735:exon4:c.282+2T>G)	.	.	0.999957495641873	0.838
18	12429438	G	A	18	12429439	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.76201899951081E-5	0.0
18	12429438	G	C	18	12429439	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.316484716721459	0.374
18	12429438	G	T	18	12429439	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.085614917778131	0.258
18	12429439	A	C	18	12429440	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.734144396282473	0.498
18	12429439	A	G	18	12429440	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.966132072727377	0.668
18	12429439	A	T	18	12429440	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.977952236608555	0.602
18	12429440	G	A	18	12429441	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.997412575871571	0.696
18	12429440	G	C	18	12429441	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999221219611952	0.782
18	12429440	G	T	18	12429441	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999221219611952	0.706
18	12429441	T	A	18	12429442	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.255689750893051	0.384
18	12429441	T	C	18	12429442	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0125845217620075	0.236
18	12429441	T	G	18	12429442	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0117889648567702	0.222
18	12429442	A	C	18	12429443	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.93750929994865E-5	0.0
18	12429442	A	G	18	12429443	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.96564633544204E-5	0.0
18	12429442	A	T	18	12429443	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.17658788574169E-5	0.0
18	12429443	C	A	18	12429444	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.42781792791885E-5	0.0
18	12429443	C	G	18	12429444	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.42781792791885E-5	0.0
18	12429443	C	T	18	12429444	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	4.87995666562217E-5	0.0
18	12431137	G	A	18	12431138	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.00959978790069E-5	0.0
18	12431137	G	C	18	12431138	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.55908716824608E-5	0.0
18	12431137	G	T	18	12431138	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.65047354028333E-5	0.01
18	12431138	T	A	18	12431139	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.999696845290272	0.938
18	12431138	T	C	18	12431139	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00194405490014103	0.12
18	12431138	T	G	18	12431139	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.50476735023491	0.456
18	12431139	G	A	18	12431140	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	3.67223920326306E-5	0.0
18	12431139	G	C	18	12431140	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.04737572979891E-5	0.0
18	12431139	G	T	18	12431140	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.04737572979891E-5	0.02
18	12431140	T	A	18	12431141	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0371939604069199	0.256
18	12431140	T	C	18	12431141	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.0276457381337E-4	0.034
18	12431140	T	G	18	12431141	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00432311121978488	0.128
18	12431141	C	A	18	12431142	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	5.20087180455707E-4	0.098
18	12431141	C	G	18	12431142	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.9944853393958E-4	0.07
18	12431141	C	T	18	12431142	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.32639242329754E-5	0.008
18	12431142	T	A	18	12431143	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.112185630496775	0.322
18	12431142	T	C	18	12431143	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.16330923318404E-4	0.044
18	12431142	T	G	18	12431143	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0412376896586092	0.188
18	12431143	C	A	18	12431144	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.00570454094221195	0.228
18	12431143	C	G	18	12431144	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0032425424322298	0.194
18	12431143	C	T	18	12431144	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.61280911616399E-5	0.006
18	12431144	T	A	18	12431145	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.934319758878175	0.74
18	12431144	T	C	18	12431145	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	9.60312998640541E-5	0.004
18	12431144	T	G	18	12431145	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.0846724484778359	0.318
18	12431145	G	A	18	12431146	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.00279172554826E-5	0.002
18	12431145	G	C	18	12431146	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.90949418801117E-5	0.0
18	12431145	G	T	18	12431146	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	1.68377167833724E-5	0.002
18	12431146	C	A	18	12431147	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.878352309104491	0.7
18	12431146	C	G	18	12431147	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	0.99916780533034	0.936
18	12431146	C	T	18	12431147	y	y	intronic	SLMO1	.	.	intronic	ENSG00000141391	.	.	2.44656935707834E-4	0.112
18	12431147	A	C	18	12431148	y	y	splicing	SLMO1(NM_006553:exon7:c.550-2A>C;NM_001142405:exon7:c.553-2A>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon7:c.553-2A>C;ENST00000336990:exon7:c.550-2A>C;ENST00000590956:exon6:c.283-2A>C;ENST00000589565:exon7:c.374-2A>C;ENST00000592149:exon6:c.490-2A>C;ENST00000587735:exon5:c.283-2A>C)	.	.	0.99996947969426	0.732
18	12431147	A	G	18	12431148	y	y	splicing	SLMO1(NM_006553:exon7:c.550-2A>G;NM_001142405:exon7:c.553-2A>G)	.	.	splicing	ENSG00000141391(ENST00000440960:exon7:c.553-2A>G;ENST00000336990:exon7:c.550-2A>G;ENST00000590956:exon6:c.283-2A>G;ENST00000589565:exon7:c.374-2A>G;ENST00000592149:exon6:c.490-2A>G;ENST00000587735:exon5:c.283-2A>G)	.	.	0.99996947969426	0.732
18	12431147	A	T	18	12431148	y	y	splicing	SLMO1(NM_006553:exon7:c.550-2A>T;NM_001142405:exon7:c.553-2A>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon7:c.553-2A>T;ENST00000336990:exon7:c.550-2A>T;ENST00000590956:exon6:c.283-2A>T;ENST00000589565:exon7:c.374-2A>T;ENST00000592149:exon6:c.490-2A>T;ENST00000587735:exon5:c.283-2A>T)	.	.	0.99996947969426	0.746
18	12431148	G	A	18	12431149	y	y	splicing	SLMO1(NM_006553:exon7:c.550-1G>A;NM_001142405:exon7:c.553-1G>A)	.	.	splicing	ENSG00000141391(ENST00000440960:exon7:c.553-1G>A;ENST00000336990:exon7:c.550-1G>A;ENST00000590956:exon6:c.283-1G>A;ENST00000589565:exon7:c.374-1G>A;ENST00000592149:exon6:c.490-1G>A;ENST00000587735:exon5:c.283-1G>A)	.	.	0.999800177908076	0.53
18	12431148	G	C	18	12431149	y	y	splicing	SLMO1(NM_006553:exon7:c.550-1G>C;NM_001142405:exon7:c.553-1G>C)	.	.	splicing	ENSG00000141391(ENST00000440960:exon7:c.553-1G>C;ENST00000336990:exon7:c.550-1G>C;ENST00000590956:exon6:c.283-1G>C;ENST00000589565:exon7:c.374-1G>C;ENST00000592149:exon6:c.490-1G>C;ENST00000587735:exon5:c.283-1G>C)	.	.	0.999800177908076	0.534
18	12431148	G	T	18	12431149	y	y	splicing	SLMO1(NM_006553:exon7:c.550-1G>T;NM_001142405:exon7:c.553-1G>T)	.	.	splicing	ENSG00000141391(ENST00000440960:exon7:c.553-1G>T;ENST00000336990:exon7:c.550-1G>T;ENST00000590956:exon6:c.283-1G>T;ENST00000589565:exon7:c.374-1G>T;ENST00000592149:exon6:c.490-1G>T;ENST00000587735:exon5:c.283-1G>T)	.	.	0.999800177908076	0.538
18	12431149	A	C	18	12431150	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	8.22583407459362E-4	0.116
18	12431149	A	G	18	12431150	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	3.75215474205756E-4	0.016
18	12431149	A	T	18	12431150	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	0.00138850250021215	0.124
18	12431150	T	A	18	12431151	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	2.65164374354921E-4	0.12
18	12431150	T	C	18	12431151	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	2.81074018663439E-5	0.062
18	12431150	T	G	18	12431151	y	y	UTR3	SLMO1	.	.	UTR3	ENSG00000141391	.	.	1.53606072107027E-4	0.048
18	12449894	A	C	18	12449895	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon16:c.T1612G:p.F538V;SPIRE1:NM_020148:exon16:c.T1972G:p.F658V;SPIRE1:NM_001128626:exon17:c.T2014G:p.F672V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon17:c.T2014G:p.F672V;ENSG00000134278:ENST00000453447:exon16:c.T1612G:p.F538V;ENSG00000134278:ENST00000410092:exon16:c.T1972G:p.F658V;ENSG00000134278:ENST00000309836:exon15:c.T1381G:p.F461V;	0.00871174174081761	0.128
18	12449894	A	G	18	12449895	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon16:c.T1612C:p.F538L;SPIRE1:NM_020148:exon16:c.T1972C:p.F658L;SPIRE1:NM_001128626:exon17:c.T2014C:p.F672L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon17:c.T2014C:p.F672L;ENSG00000134278:ENST00000453447:exon16:c.T1612C:p.F538L;ENSG00000134278:ENST00000410092:exon16:c.T1972C:p.F658L;ENSG00000134278:ENST00000309836:exon15:c.T1381C:p.F461L;	0.0244894911436272	0.186
18	12449894	A	T	18	12449895	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon16:c.T1612A:p.F538I;SPIRE1:NM_020148:exon16:c.T1972A:p.F658I;SPIRE1:NM_001128626:exon17:c.T2014A:p.F672I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon17:c.T2014A:p.F672I;ENSG00000134278:ENST00000453447:exon16:c.T1612A:p.F538I;ENSG00000134278:ENST00000410092:exon16:c.T1972A:p.F658I;ENSG00000134278:ENST00000309836:exon15:c.T1381A:p.F461I;	0.12443428810956	0.304
18	12449895	C	A	18	12449896	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon16:c.G1611T:p.R537S;SPIRE1:NM_020148:exon16:c.G1971T:p.R657S;SPIRE1:NM_001128626:exon17:c.G2013T:p.R671S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon17:c.G2013T:p.R671S;ENSG00000134278:ENST00000453447:exon16:c.G1611T:p.R537S;ENSG00000134278:ENST00000410092:exon16:c.G1971T:p.R657S;ENSG00000134278:ENST00000309836:exon15:c.G1380T:p.R460S;	0.249280338827644	0.4
18	12449895	C	G	18	12449896	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon16:c.G1611C:p.R537S;SPIRE1:NM_020148:exon16:c.G1971C:p.R657S;SPIRE1:NM_001128626:exon17:c.G2013C:p.R671S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon17:c.G2013C:p.R671S;ENSG00000134278:ENST00000453447:exon16:c.G1611C:p.R537S;ENSG00000134278:ENST00000410092:exon16:c.G1971C:p.R657S;ENSG00000134278:ENST00000309836:exon15:c.G1380C:p.R460S;	0.0124621499472888	0.262
18	12449895	C	T	18	12449896	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon16:c.G1611A:p.R537R;SPIRE1:NM_020148:exon16:c.G1971A:p.R657R;SPIRE1:NM_001128626:exon17:c.G2013A:p.R671R;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon17:c.G2013A:p.R671R;ENSG00000134278:ENST00000453447:exon16:c.G1611A:p.R537R;ENSG00000134278:ENST00000410092:exon16:c.G1971A:p.R657R;ENSG00000134278:ENST00000309836:exon15:c.G1380A:p.R460R;	5.08232238471048E-4	0.142
18	12449896	C	A	18	12449897	y	y	splicing	SPIRE1(NM_001128627:exon17:c.1611-1G>T;NM_001128626:exon18:c.2013-1G>T;NM_020148:exon17:c.1971-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon18:c.2013-1G>T;ENST00000410092:exon17:c.1971-1G>T;ENST00000309836:exon16:c.1380-1G>T;ENST00000440472:exon17:c.1518-1G>T;ENST00000453447:exon17:c.1611-1G>T;ENST00000592156:exon9:c.635-1G>T)	.	.	0.999989263107695	0.934
18	12449896	C	G	18	12449897	y	y	splicing	SPIRE1(NM_001128627:exon17:c.1611-1G>C;NM_001128626:exon18:c.2013-1G>C;NM_020148:exon17:c.1971-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon18:c.2013-1G>C;ENST00000410092:exon17:c.1971-1G>C;ENST00000309836:exon16:c.1380-1G>C;ENST00000440472:exon17:c.1518-1G>C;ENST00000453447:exon17:c.1611-1G>C;ENST00000592156:exon9:c.635-1G>C)	.	.	0.999989263107695	0.924
18	12449896	C	T	18	12449897	y	y	splicing	SPIRE1(NM_001128627:exon17:c.1611-1G>A;NM_001128626:exon18:c.2013-1G>A;NM_020148:exon17:c.1971-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon18:c.2013-1G>A;ENST00000410092:exon17:c.1971-1G>A;ENST00000309836:exon16:c.1380-1G>A;ENST00000440472:exon17:c.1518-1G>A;ENST00000453447:exon17:c.1611-1G>A;ENST00000592156:exon9:c.635-1G>A)	.	.	0.999989263107695	0.934
18	12449897	T	A	18	12449898	y	y	splicing	SPIRE1(NM_001128627:exon17:c.1611-2A>T;NM_001128626:exon18:c.2013-2A>T;NM_020148:exon17:c.1971-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon18:c.2013-2A>T;ENST00000410092:exon17:c.1971-2A>T;ENST00000309836:exon16:c.1380-2A>T;ENST00000440472:exon17:c.1518-2A>T;ENST00000453447:exon17:c.1611-2A>T;ENST00000592156:exon9:c.635-2A>T)	.	.	0.999988247793601	0.928
18	12449897	T	C	18	12449898	y	y	splicing	SPIRE1(NM_001128627:exon17:c.1611-2A>G;NM_001128626:exon18:c.2013-2A>G;NM_020148:exon17:c.1971-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon18:c.2013-2A>G;ENST00000410092:exon17:c.1971-2A>G;ENST00000309836:exon16:c.1380-2A>G;ENST00000440472:exon17:c.1518-2A>G;ENST00000453447:exon17:c.1611-2A>G;ENST00000592156:exon9:c.635-2A>G)	.	.	0.999988247793601	0.928
18	12449897	T	G	18	12449898	y	y	splicing	SPIRE1(NM_001128627:exon17:c.1611-2A>C;NM_001128626:exon18:c.2013-2A>C;NM_020148:exon17:c.1971-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon18:c.2013-2A>C;ENST00000410092:exon17:c.1971-2A>C;ENST00000309836:exon16:c.1380-2A>C;ENST00000440472:exon17:c.1518-2A>C;ENST00000453447:exon17:c.1611-2A>C;ENST00000592156:exon9:c.635-2A>C)	.	.	0.999988247793601	0.928
18	12449898	G	A	18	12449899	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00360404582767619	0.102
18	12449898	G	C	18	12449899	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.991081107129939	0.864
18	12449898	G	T	18	12449899	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.245353216020137	0.478
18	12449899	G	A	18	12449900	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.46115187731333E-4	0.028
18	12449899	G	C	18	12449900	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.38009171552829E-4	0.02
18	12449899	G	T	18	12449900	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.46115187731333E-4	0.012
18	12449900	G	A	18	12449901	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.58150250244176E-5	0.03
18	12449900	G	C	18	12449901	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.17793836391853E-5	0.074
18	12449900	G	T	18	12449901	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.55701789149037E-4	0.074
18	12449901	G	A	18	12449902	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.73059832471577E-5	0.004
18	12449901	G	C	18	12449902	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999040921454961	0.906
18	12449901	G	T	18	12449902	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.43089381277441E-4	0.064
18	12449902	T	A	18	12449903	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.58993407667567E-5	0.0
18	12449902	T	C	18	12449903	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.45307536862929E-5	0.0
18	12449902	T	G	18	12449903	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.01653222116569E-5	0.008
18	12449903	G	A	18	12449904	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.70820572997065E-5	0.0
18	12449903	G	C	18	12449904	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.22318294363011E-4	0.002
18	12449903	G	T	18	12449904	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.74292094407431E-4	0.008
18	12449904	A	C	18	12449905	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00181742415900454	0.084
18	12449904	A	G	18	12449905	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.73329809089473E-5	0.002
18	12449904	A	T	18	12449905	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00515603580775267	0.088
18	12449905	A	C	18	12449906	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.02704175446364	0.294
18	12449905	A	G	18	12449906	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.9935277538319E-4	0.004
18	12449905	A	T	18	12449906	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0446706628423081	0.376
18	12449906	A	C	18	12449907	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0277720829412387	0.408
18	12449906	A	G	18	12449907	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.06225000045524E-4	0.066
18	12449906	A	T	18	12449907	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.187477388592183	0.382
18	12449907	A	C	18	12449908	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.93221055057235E-4	0.104
18	12449907	A	G	18	12449908	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.80894718779134E-5	0.0
18	12449907	A	T	18	12449908	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00120389203450216	0.106
18	12452246	T	A	18	12452247	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.10186939184578E-4	0.0
18	12452246	T	C	18	12452247	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.61117938671268E-4	0.012
18	12452246	T	G	18	12452247	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.60758400874948E-4	0.01
18	12452247	T	A	18	12452248	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.36028289523326E-5	0.0
18	12452247	T	C	18	12452248	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.0128412994525E-5	0.002
18	12452247	T	G	18	12452248	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.35480018914068E-5	0.0
18	12452248	G	A	18	12452249	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.15745509191453E-4	0.118
18	12452248	G	C	18	12452249	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.64199416447103E-4	0.04
18	12452248	G	T	18	12452249	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.84075935156542E-4	0.026
18	12452249	C	A	18	12452250	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.996260535183207	0.884
18	12452249	C	G	18	12452250	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.994406892479097	0.838
18	12452249	C	T	18	12452250	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999448570461359	0.962
18	12452250	T	A	18	12452251	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.566198073048334	0.348
18	12452250	T	C	18	12452251	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.430370392653915	0.388
18	12452250	T	G	18	12452251	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0303004631476383	0.21
18	12452251	C	A	18	12452252	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.453955794555225	0.43
18	12452251	C	G	18	12452252	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.171409046832812	0.438
18	12452251	C	T	18	12452252	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.04057031173393E-5	0.0
18	12452252	A	C	18	12452253	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1610+2T>G;NM_001128626:exon17:c.2012+2T>G;NM_020148:exon16:c.1970+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.2012+2T>G;ENST00000410092:exon16:c.1970+2T>G;ENST00000309836:exon15:c.1379+2T>G;ENST00000440472:exon16:c.1517+2T>G;ENST00000453447:exon16:c.1610+2T>G;ENST00000592156:exon8:c.634+2T>G)	.	.	0.999988247793601	0.928
18	12452252	A	G	18	12452253	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1610+2T>C;NM_001128626:exon17:c.2012+2T>C;NM_020148:exon16:c.1970+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.2012+2T>C;ENST00000410092:exon16:c.1970+2T>C;ENST00000309836:exon15:c.1379+2T>C;ENST00000440472:exon16:c.1517+2T>C;ENST00000453447:exon16:c.1610+2T>C;ENST00000592156:exon8:c.634+2T>C)	.	.	0.999929727175276	0.866
18	12452252	A	T	18	12452253	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1610+2T>A;NM_001128626:exon17:c.2012+2T>A;NM_020148:exon16:c.1970+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.2012+2T>A;ENST00000410092:exon16:c.1970+2T>A;ENST00000309836:exon15:c.1379+2T>A;ENST00000440472:exon16:c.1517+2T>A;ENST00000453447:exon16:c.1610+2T>A;ENST00000592156:exon8:c.634+2T>A)	.	.	0.999988247793601	0.928
18	12452253	C	A	18	12452254	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1610+1G>T;NM_001128626:exon17:c.2012+1G>T;NM_020148:exon16:c.1970+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.2012+1G>T;ENST00000410092:exon16:c.1970+1G>T;ENST00000309836:exon15:c.1379+1G>T;ENST00000440472:exon16:c.1517+1G>T;ENST00000453447:exon16:c.1610+1G>T;ENST00000592156:exon8:c.634+1G>T)	.	.	0.999985532734767	0.936
18	12452253	C	G	18	12452254	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1610+1G>C;NM_001128626:exon17:c.2012+1G>C;NM_020148:exon16:c.1970+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.2012+1G>C;ENST00000410092:exon16:c.1970+1G>C;ENST00000309836:exon15:c.1379+1G>C;ENST00000440472:exon16:c.1517+1G>C;ENST00000453447:exon16:c.1610+1G>C;ENST00000592156:exon8:c.634+1G>C)	.	.	0.999985532734767	0.936
18	12452253	C	T	18	12452254	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1610+1G>A;NM_001128626:exon17:c.2012+1G>A;NM_020148:exon16:c.1970+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.2012+1G>A;ENST00000410092:exon16:c.1970+1G>A;ENST00000309836:exon15:c.1379+1G>A;ENST00000440472:exon16:c.1517+1G>A;ENST00000453447:exon16:c.1610+1G>A;ENST00000592156:exon8:c.634+1G>A)	.	.	0.999985532734767	0.936
18	12452254	C	A	18	12452255	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.G1610T:p.R537M;SPIRE1:NM_020148:exon15:c.G1970T:p.R657M;SPIRE1:NM_001128626:exon16:c.G2012T:p.R671M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.G2012T:p.R671M;ENSG00000134278:ENST00000453447:exon15:c.G1610T:p.R537M;ENSG00000134278:ENST00000410092:exon15:c.G1970T:p.R657M;ENSG00000134278:ENST00000309836:exon14:c.G1379T:p.R460M;	0.999928258709172	0.998
18	12452254	C	G	18	12452255	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.G1610C:p.R537T;SPIRE1:NM_020148:exon15:c.G1970C:p.R657T;SPIRE1:NM_001128626:exon16:c.G2012C:p.R671T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.G2012C:p.R671T;ENSG00000134278:ENST00000453447:exon15:c.G1610C:p.R537T;ENSG00000134278:ENST00000410092:exon15:c.G1970C:p.R657T;ENSG00000134278:ENST00000309836:exon14:c.G1379C:p.R460T;	0.999942660720044	0.976
18	12452254	C	T	18	12452255	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.G1610A:p.R537K;SPIRE1:NM_020148:exon15:c.G1970A:p.R657K;SPIRE1:NM_001128626:exon16:c.G2012A:p.R671K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.G2012A:p.R671K;ENSG00000134278:ENST00000453447:exon15:c.G1610A:p.R537K;ENSG00000134278:ENST00000410092:exon15:c.G1970A:p.R657K;ENSG00000134278:ENST00000309836:exon14:c.G1379A:p.R460K;	0.983848355037832	0.954
18	12452255	T	A	18	12452256	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.A1609T:p.R537W;SPIRE1:NM_020148:exon15:c.A1969T:p.R657W;SPIRE1:NM_001128626:exon16:c.A2011T:p.R671W;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.A2011T:p.R671W;ENSG00000134278:ENST00000453447:exon15:c.A1609T:p.R537W;ENSG00000134278:ENST00000410092:exon15:c.A1969T:p.R657W;ENSG00000134278:ENST00000309836:exon14:c.A1378T:p.R460W;	0.989905619051423	0.844
18	12452255	T	C	18	12452256	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.A1609G:p.R537G;SPIRE1:NM_020148:exon15:c.A1969G:p.R657G;SPIRE1:NM_001128626:exon16:c.A2011G:p.R671G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.A2011G:p.R671G;ENSG00000134278:ENST00000453447:exon15:c.A1609G:p.R537G;ENSG00000134278:ENST00000410092:exon15:c.A1969G:p.R657G;ENSG00000134278:ENST00000309836:exon14:c.A1378G:p.R460G;	0.993504831047145	0.954
18	12452255	T	G	18	12452256	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon15:c.A1609C:p.R537R;SPIRE1:NM_020148:exon15:c.A1969C:p.R657R;SPIRE1:NM_001128626:exon16:c.A2011C:p.R671R;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.A2011C:p.R671R;ENSG00000134278:ENST00000453447:exon15:c.A1609C:p.R537R;ENSG00000134278:ENST00000410092:exon15:c.A1969C:p.R657R;ENSG00000134278:ENST00000309836:exon14:c.A1378C:p.R460R;	0.986889296860007	0.932
18	12452256	G	A	18	12452257	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon15:c.C1608T:p.A536A;SPIRE1:NM_020148:exon15:c.C1968T:p.A656A;SPIRE1:NM_001128626:exon16:c.C2010T:p.A670A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.C2010T:p.A670A;ENSG00000134278:ENST00000453447:exon15:c.C1608T:p.A536A;ENSG00000134278:ENST00000410092:exon15:c.C1968T:p.A656A;ENSG00000134278:ENST00000309836:exon14:c.C1377T:p.A459A;	0.983492778078122	0.744
18	12452256	G	C	18	12452257	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon15:c.C1608G:p.A536A;SPIRE1:NM_020148:exon15:c.C1968G:p.A656A;SPIRE1:NM_001128626:exon16:c.C2010G:p.A670A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.C2010G:p.A670A;ENSG00000134278:ENST00000453447:exon15:c.C1608G:p.A536A;ENSG00000134278:ENST00000410092:exon15:c.C1968G:p.A656A;ENSG00000134278:ENST00000309836:exon14:c.C1377G:p.A459A;	0.84140850081344	0.534
18	12452256	G	T	18	12452257	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon15:c.C1608A:p.A536A;SPIRE1:NM_020148:exon15:c.C1968A:p.A656A;SPIRE1:NM_001128626:exon16:c.C2010A:p.A670A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.C2010A:p.A670A;ENSG00000134278:ENST00000453447:exon15:c.C1608A:p.A536A;ENSG00000134278:ENST00000410092:exon15:c.C1968A:p.A656A;ENSG00000134278:ENST00000309836:exon14:c.C1377A:p.A459A;	0.850052602787374	0.556
18	12452389	A	C	18	12452390	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.T1475G:p.M492R;SPIRE1:NM_020148:exon15:c.T1835G:p.M612R;SPIRE1:NM_001128626:exon16:c.T1877G:p.M626R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.T1877G:p.M626R;ENSG00000134278:ENST00000453447:exon15:c.T1475G:p.M492R;ENSG00000134278:ENST00000410092:exon15:c.T1835G:p.M612R;ENSG00000134278:ENST00000309836:exon14:c.T1244G:p.M415R;	0.657000357264695	.
18	12452389	A	G	18	12452390	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.T1475C:p.M492T;SPIRE1:NM_020148:exon15:c.T1835C:p.M612T;SPIRE1:NM_001128626:exon16:c.T1877C:p.M626T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.T1877C:p.M626T;ENSG00000134278:ENST00000453447:exon15:c.T1475C:p.M492T;ENSG00000134278:ENST00000410092:exon15:c.T1835C:p.M612T;ENSG00000134278:ENST00000309836:exon14:c.T1244C:p.M415T;	0.674251212438795	.
18	12452389	A	T	18	12452390	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.T1475A:p.M492K;SPIRE1:NM_020148:exon15:c.T1835A:p.M612K;SPIRE1:NM_001128626:exon16:c.T1877A:p.M626K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.T1877A:p.M626K;ENSG00000134278:ENST00000453447:exon15:c.T1475A:p.M492K;ENSG00000134278:ENST00000410092:exon15:c.T1835A:p.M612K;ENSG00000134278:ENST00000309836:exon14:c.T1244A:p.M415K;	0.797768647602577	.
18	12452390	T	A	18	12452391	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.A1474T:p.M492L;SPIRE1:NM_020148:exon15:c.A1834T:p.M612L;SPIRE1:NM_001128626:exon16:c.A1876T:p.M626L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.A1876T:p.M626L;ENSG00000134278:ENST00000453447:exon15:c.A1474T:p.M492L;ENSG00000134278:ENST00000410092:exon15:c.A1834T:p.M612L;ENSG00000134278:ENST00000309836:exon14:c.A1243T:p.M415L;	0.889172043002508	.
18	12452390	T	C	18	12452391	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.A1474G:p.M492V;SPIRE1:NM_020148:exon15:c.A1834G:p.M612V;SPIRE1:NM_001128626:exon16:c.A1876G:p.M626V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.A1876G:p.M626V;ENSG00000134278:ENST00000453447:exon15:c.A1474G:p.M492V;ENSG00000134278:ENST00000410092:exon15:c.A1834G:p.M612V;ENSG00000134278:ENST00000309836:exon14:c.A1243G:p.M415V;	0.648422751534483	.
18	12452390	T	G	18	12452391	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon15:c.A1474C:p.M492L;SPIRE1:NM_020148:exon15:c.A1834C:p.M612L;SPIRE1:NM_001128626:exon16:c.A1876C:p.M626L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon16:c.A1876C:p.M626L;ENSG00000134278:ENST00000453447:exon15:c.A1474C:p.M492L;ENSG00000134278:ENST00000410092:exon15:c.A1834C:p.M612L;ENSG00000134278:ENST00000309836:exon14:c.A1243C:p.M415L;	0.889172043002508	.
18	12452391	C	A	18	12452392	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1474-1G>T;NM_001128626:exon17:c.1876-1G>T;NM_020148:exon16:c.1834-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.1876-1G>T;ENST00000410092:exon16:c.1834-1G>T;ENST00000309836:exon15:c.1243-1G>T;ENST00000453447:exon16:c.1474-1G>T;ENST00000592156:exon8:c.498-1G>T)	.	.	0.999974634749143	.
18	12452391	C	G	18	12452392	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1474-1G>C;NM_001128626:exon17:c.1876-1G>C;NM_020148:exon16:c.1834-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.1876-1G>C;ENST00000410092:exon16:c.1834-1G>C;ENST00000309836:exon15:c.1243-1G>C;ENST00000453447:exon16:c.1474-1G>C;ENST00000592156:exon8:c.498-1G>C)	.	.	0.999974634749143	.
18	12452391	C	T	18	12452392	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1474-1G>A;NM_001128626:exon17:c.1876-1G>A;NM_020148:exon16:c.1834-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.1876-1G>A;ENST00000410092:exon16:c.1834-1G>A;ENST00000309836:exon15:c.1243-1G>A;ENST00000453447:exon16:c.1474-1G>A;ENST00000592156:exon8:c.498-1G>A)	.	.	0.999974634749143	.
18	12452392	T	A	18	12452393	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1474-2A>T;NM_001128626:exon17:c.1876-2A>T;NM_020148:exon16:c.1834-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.1876-2A>T;ENST00000410092:exon16:c.1834-2A>T;ENST00000309836:exon15:c.1243-2A>T;ENST00000453447:exon16:c.1474-2A>T;ENST00000592156:exon8:c.498-2A>T)	.	.	0.999959626360342	.
18	12452392	T	C	18	12452393	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1474-2A>G;NM_001128626:exon17:c.1876-2A>G;NM_020148:exon16:c.1834-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.1876-2A>G;ENST00000410092:exon16:c.1834-2A>G;ENST00000309836:exon15:c.1243-2A>G;ENST00000453447:exon16:c.1474-2A>G;ENST00000592156:exon8:c.498-2A>G)	.	.	0.999954785339841	.
18	12452392	T	G	18	12452393	y	y	splicing	SPIRE1(NM_001128627:exon16:c.1474-2A>C;NM_001128626:exon17:c.1876-2A>C;NM_020148:exon16:c.1834-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon17:c.1876-2A>C;ENST00000410092:exon16:c.1834-2A>C;ENST00000309836:exon15:c.1243-2A>C;ENST00000453447:exon16:c.1474-2A>C;ENST00000592156:exon8:c.498-2A>C)	.	.	0.999954785339841	.
18	12452393	A	C	18	12452394	y	y	intronic	SPIRE1	.	.	UTR3	ENSG00000134278	.	.	0.0342471340018058	.
18	12452393	A	G	18	12452394	y	y	intronic	SPIRE1	.	.	UTR3	ENSG00000134278	.	.	1.4395934319514E-4	.
18	12452393	A	T	18	12452394	y	y	intronic	SPIRE1	.	.	UTR3	ENSG00000134278	.	.	0.00806653301572735	.
18	12452394	T	A	18	12452395	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stoploss SNV	ENSG00000134278:ENST00000440472:exon15:c.A1377T:p.X459Y;ENSG00000134278:ENST00000383356:exon14:c.A1377T:p.X459Y;	0.00100215330714778	.
18	12452394	T	C	18	12452395	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.A1377G:p.X459X;ENSG00000134278:ENST00000383356:exon14:c.A1377G:p.X459X;	0.950943894449387	.
18	12452394	T	G	18	12452395	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stoploss SNV	ENSG00000134278:ENST00000440472:exon15:c.A1377C:p.X459Y;ENSG00000134278:ENST00000383356:exon14:c.A1377C:p.X459Y;	7.79332700715614E-4	.
18	12452395	T	A	18	12452396	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stoploss SNV	ENSG00000134278:ENST00000440472:exon15:c.A1376T:p.X459L;ENSG00000134278:ENST00000383356:exon14:c.A1376T:p.X459L;	8.84256538254097E-5	.
18	12452395	T	C	18	12452396	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.A1376G:p.X459X;ENSG00000134278:ENST00000383356:exon14:c.A1376G:p.X459X;	6.63098168076089E-5	.
18	12452395	T	G	18	12452396	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stoploss SNV	ENSG00000134278:ENST00000440472:exon15:c.A1376C:p.X459S;ENSG00000134278:ENST00000383356:exon14:c.A1376C:p.X459S;	2.2652609118568E-5	.
18	12452396	A	C	18	12452397	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stoploss SNV	ENSG00000134278:ENST00000440472:exon15:c.T1375G:p.X459E;ENSG00000134278:ENST00000383356:exon14:c.T1375G:p.X459E;	0.999744154596055	.
18	12452396	A	G	18	12452397	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stoploss SNV	ENSG00000134278:ENST00000440472:exon15:c.T1375C:p.X459Q;ENSG00000134278:ENST00000383356:exon14:c.T1375C:p.X459Q;	3.69937905722635E-4	.
18	12452396	A	T	18	12452397	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stoploss SNV	ENSG00000134278:ENST00000440472:exon15:c.T1375A:p.X459K;ENSG00000134278:ENST00000383356:exon14:c.T1375A:p.X459K;	0.951952625637012	.
18	12452397	T	A	18	12452398	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.A1374T:p.G458G;ENSG00000134278:ENST00000383356:exon14:c.A1374T:p.G458G;	6.18170884041454E-5	.
18	12452397	T	C	18	12452398	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.A1374G:p.G458G;ENSG00000134278:ENST00000383356:exon14:c.A1374G:p.G458G;	7.398776711428E-5	.
18	12452397	T	G	18	12452398	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.A1374C:p.G458G;ENSG00000134278:ENST00000383356:exon14:c.A1374C:p.G458G;	5.33669712710349E-5	.
18	12452398	C	A	18	12452399	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1373T:p.G458V;ENSG00000134278:ENST00000383356:exon14:c.G1373T:p.G458V;	4.68710222875418E-5	.
18	12452398	C	G	18	12452399	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1373C:p.G458A;ENSG00000134278:ENST00000383356:exon14:c.G1373C:p.G458A;	4.2396277173516E-5	.
18	12452398	C	T	18	12452399	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1373A:p.G458E;ENSG00000134278:ENST00000383356:exon14:c.G1373A:p.G458E;	0.00171885265797302	.
18	12452399	C	A	18	12452400	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000440472:exon15:c.G1372T:p.G458X;ENSG00000134278:ENST00000383356:exon14:c.G1372T:p.G458X;	0.204958159839323	.
18	12452399	C	G	18	12452400	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1372C:p.G458R;ENSG00000134278:ENST00000383356:exon14:c.G1372C:p.G458R;	8.55748093816724E-4	.
18	12452399	C	T	18	12452400	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1372A:p.G458R;ENSG00000134278:ENST00000383356:exon14:c.G1372A:p.G458R;	0.979672535697638	.
18	12452400	C	A	18	12452401	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1371T:p.L457F;ENSG00000134278:ENST00000383356:exon14:c.G1371T:p.L457F;	2.52787945029314E-4	.
18	12452400	C	G	18	12452401	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1371C:p.L457F;ENSG00000134278:ENST00000383356:exon14:c.G1371C:p.L457F;	3.02379132697082E-4	.
18	12452400	C	T	18	12452401	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1371A:p.L457L;ENSG00000134278:ENST00000383356:exon14:c.G1371A:p.L457L;	0.970205251291167	.
18	12452401	A	C	18	12452402	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.T1370G:p.L457W;ENSG00000134278:ENST00000383356:exon14:c.T1370G:p.L457W;	0.919753051083622	.
18	12452401	A	G	18	12452402	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.T1370C:p.L457S;ENSG00000134278:ENST00000383356:exon14:c.T1370C:p.L457S;	0.427029942962366	.
18	12452401	A	T	18	12452402	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000440472:exon15:c.T1370A:p.L457X;ENSG00000134278:ENST00000383356:exon14:c.T1370A:p.L457X;	0.999915113955643	.
18	12452402	A	C	18	12452403	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.T1369G:p.L457V;ENSG00000134278:ENST00000383356:exon14:c.T1369G:p.L457V;	0.996559371693539	.
18	12452402	A	G	18	12452403	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.T1369C:p.L457L;ENSG00000134278:ENST00000383356:exon14:c.T1369C:p.L457L;	0.00223214935642652	.
18	12452402	A	T	18	12452403	y	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.T1369A:p.L457M;ENSG00000134278:ENST00000383356:exon14:c.T1369A:p.L457M;	0.998412372670956	.
18	12452441	C	A	18	12452442	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1330T:p.D444Y;ENSG00000134278:ENST00000383356:exon14:c.G1330T:p.D444Y;	0.00233566774876716	0.054
18	12452441	C	G	18	12452442	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1330C:p.D444H;ENSG00000134278:ENST00000383356:exon14:c.G1330C:p.D444H;	0.00233566774876716	0.056
18	12452441	C	T	18	12452442	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.G1330A:p.D444N;ENSG00000134278:ENST00000383356:exon14:c.G1330A:p.D444N;	0.00361888719624513	0.072
18	12452442	A	C	18	12452443	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.T1329G:p.S443R;ENSG00000134278:ENST00000383356:exon14:c.T1329G:p.S443R;	7.91790761417133E-5	0.018
18	12452442	A	G	18	12452443	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.T1329C:p.S443S;ENSG00000134278:ENST00000383356:exon14:c.T1329C:p.S443S;	6.13350613825342E-6	0.002
18	12452442	A	T	18	12452443	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon15:c.T1329A:p.S443R;ENSG00000134278:ENST00000383356:exon14:c.T1329A:p.S443R;	7.91790761417133E-5	0.01
18	12452443	C	A	18	12452444	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000440472:exon16:c.1329-1G>T;ENST00000383356:exon15:c.1329-1G>T)	.	.	3.78864525412067E-5	0.002
18	12452443	C	G	18	12452444	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000440472:exon16:c.1329-1G>C;ENST00000383356:exon15:c.1329-1G>C)	.	.	2.45277156108894E-5	0.0
18	12452443	C	T	18	12452444	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000440472:exon16:c.1329-1G>A;ENST00000383356:exon15:c.1329-1G>A)	.	.	3.78864525412067E-5	0.0
18	12452444	T	A	18	12452445	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000440472:exon16:c.1329-2A>T;ENST00000383356:exon15:c.1329-2A>T)	.	.	4.04096031973704E-5	0.008
18	12452444	T	C	18	12452445	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000440472:exon16:c.1329-2A>G;ENST00000383356:exon15:c.1329-2A>G)	.	.	4.87698428322107E-5	0.008
18	12452444	T	G	18	12452445	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000440472:exon16:c.1329-2A>C;ENST00000383356:exon15:c.1329-2A>C)	.	.	4.87698428322107E-5	0.008
18	12452445	A	C	18	12452446	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.5908222467397E-5	0.002
18	12452445	A	G	18	12452446	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.5908222467397E-5	0.002
18	12452445	A	T	18	12452446	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.5908222467397E-5	0.002
18	12452446	A	C	18	12452447	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.47413882681639E-5	0.0
18	12452446	A	G	18	12452447	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.47413882681639E-5	0.0
18	12452446	A	T	18	12452447	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.47413882681639E-5	0.0
18	12452447	A	C	18	12452448	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.54404724015672E-5	0.0
18	12452447	A	G	18	12452448	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.54404724015672E-5	0.0
18	12452447	A	T	18	12452448	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.54404724015672E-5	0.0
18	12452448	A	C	18	12452449	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.33815804894828E-5	0.0
18	12452448	A	G	18	12452449	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.33815804894828E-5	0.0
18	12452448	A	T	18	12452449	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.33815804894828E-5	0.0
18	12452449	G	A	18	12452450	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.15849948155271E-5	0.0
18	12452449	G	C	18	12452450	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.15849948155271E-5	0.0
18	12452449	G	T	18	12452450	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.15849948155271E-5	0.0
18	12452450	G	A	18	12452451	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.42005417025298E-5	0.0
18	12452450	G	C	18	12452451	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.42005417025298E-5	0.0
18	12452450	G	T	18	12452451	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.42005417025298E-5	0.0
18	12452451	A	C	18	12452452	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.00474437136189E-4	0.002
18	12452451	A	G	18	12452452	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.00474437136189E-4	0.002
18	12452451	A	T	18	12452452	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.98074210530117E-4	0.01
18	12452452	A	C	18	12452453	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.90066968634554E-5	0.004
18	12452452	A	G	18	12452453	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.90066968634554E-5	0.004
18	12452452	A	T	18	12452453	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.90066968634554E-5	0.004
18	12452453	C	A	18	12452454	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.36567682305367E-5	0.004
18	12452453	C	G	18	12452454	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.36567682305367E-5	0.004
18	12452453	C	T	18	12452454	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.36567682305367E-5	0.004
18	12452454	A	C	18	12452455	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.33815804894828E-5	0.0
18	12452454	A	G	18	12452455	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.33815804894828E-5	0.0
18	12452454	A	T	18	12452455	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.33815804894828E-5	0.0
18	12452476	T	A	18	12452477	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.48413367636543E-5	0.004
18	12452476	T	C	18	12452477	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.48413367636543E-5	0.004
18	12452476	T	G	18	12452477	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.25580661932895E-5	0.0
18	12452477	A	C	18	12452478	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.30197097858482E-4	0.002
18	12452477	A	G	18	12452478	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.33979073727563E-5	0.008
18	12452477	A	T	18	12452478	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.16919236790187E-4	0.012
18	12452478	G	A	18	12452479	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.08850439461183E-4	0.01
18	12452478	G	C	18	12452479	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0015124939707733	0.042
18	12452478	G	T	18	12452479	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00107541211820192	0.044
18	12452479	C	A	18	12452480	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.994210017259311	0.73
18	12452479	C	G	18	12452480	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.96755173174456	0.618
18	12452479	C	T	18	12452480	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.953568712334424	0.604
18	12452480	T	A	18	12452481	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.911392035608186	0.682
18	12452480	T	C	18	12452481	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.936646735500772	0.67
18	12452480	T	G	18	12452481	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.806739843442189	0.648
18	12452481	T	A	18	12452482	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997410655372654	0.924
18	12452481	T	C	18	12452482	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.863020245642562	0.47
18	12452481	T	G	18	12452482	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997426107141039	0.972
18	12452482	A	C	18	12452483	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1473+2T>G;NM_001128626:exon16:c.1875+2T>G;NM_020148:exon15:c.1833+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1875+2T>G;ENST00000410092:exon15:c.1833+2T>G;ENST00000309836:exon14:c.1242+2T>G;ENST00000453447:exon15:c.1473+2T>G;ENST00000592156:exon7:c.497+2T>G)	.	.	0.999986607513753	0.914
18	12452482	A	G	18	12452483	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1473+2T>C;NM_001128626:exon16:c.1875+2T>C;NM_020148:exon15:c.1833+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1875+2T>C;ENST00000410092:exon15:c.1833+2T>C;ENST00000309836:exon14:c.1242+2T>C;ENST00000453447:exon15:c.1473+2T>C;ENST00000592156:exon7:c.497+2T>C)	.	.	0.989722594634724	0.56
18	12452482	A	T	18	12452483	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1473+2T>A;NM_001128626:exon16:c.1875+2T>A;NM_020148:exon15:c.1833+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1875+2T>A;ENST00000410092:exon15:c.1833+2T>A;ENST00000309836:exon14:c.1242+2T>A;ENST00000453447:exon15:c.1473+2T>A;ENST00000592156:exon7:c.497+2T>A)	.	.	0.999986607513753	0.914
18	12452483	C	A	18	12452484	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1473+1G>T;NM_001128626:exon16:c.1875+1G>T;NM_020148:exon15:c.1833+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1875+1G>T;ENST00000410092:exon15:c.1833+1G>T;ENST00000309836:exon14:c.1242+1G>T;ENST00000453447:exon15:c.1473+1G>T;ENST00000592156:exon7:c.497+1G>T)	.	.	0.999990361384395	0.938
18	12452483	C	G	18	12452484	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1473+1G>C;NM_001128626:exon16:c.1875+1G>C;NM_020148:exon15:c.1833+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1875+1G>C;ENST00000410092:exon15:c.1833+1G>C;ENST00000309836:exon14:c.1242+1G>C;ENST00000453447:exon15:c.1473+1G>C;ENST00000592156:exon7:c.497+1G>C)	.	.	0.999990361384395	0.938
18	12452483	C	T	18	12452484	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1473+1G>A;NM_001128626:exon16:c.1875+1G>A;NM_020148:exon15:c.1833+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1875+1G>A;ENST00000410092:exon15:c.1833+1G>A;ENST00000309836:exon14:c.1242+1G>A;ENST00000453447:exon15:c.1473+1G>A;ENST00000592156:exon7:c.497+1G>A)	.	.	0.999990361384395	0.938
18	12452484	C	A	18	12452485	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.G1473T:p.K491N;SPIRE1:NM_020148:exon14:c.G1833T:p.K611N;SPIRE1:NM_001128626:exon15:c.G1875T:p.K625N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.G1875T:p.K625N;ENSG00000134278:ENST00000453447:exon14:c.G1473T:p.K491N;ENSG00000134278:ENST00000410092:exon14:c.G1833T:p.K611N;ENSG00000134278:ENST00000309836:exon13:c.G1242T:p.K414N;	0.999951902161162	0.978
18	12452484	C	G	18	12452485	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.G1473C:p.K491N;SPIRE1:NM_020148:exon14:c.G1833C:p.K611N;SPIRE1:NM_001128626:exon15:c.G1875C:p.K625N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.G1875C:p.K625N;ENSG00000134278:ENST00000453447:exon14:c.G1473C:p.K491N;ENSG00000134278:ENST00000410092:exon14:c.G1833C:p.K611N;ENSG00000134278:ENST00000309836:exon13:c.G1242C:p.K414N;	0.999978976062675	0.95
18	12452484	C	T	18	12452485	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon14:c.G1473A:p.K491K;SPIRE1:NM_020148:exon14:c.G1833A:p.K611K;SPIRE1:NM_001128626:exon15:c.G1875A:p.K625K;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.G1875A:p.K625K;ENSG00000134278:ENST00000453447:exon14:c.G1473A:p.K491K;ENSG00000134278:ENST00000410092:exon14:c.G1833A:p.K611K;ENSG00000134278:ENST00000309836:exon13:c.G1242A:p.K414K;	0.999829295833938	0.952
18	12452485	T	A	18	12452486	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.A1472T:p.K491M;SPIRE1:NM_020148:exon14:c.A1832T:p.K611M;SPIRE1:NM_001128626:exon15:c.A1874T:p.K625M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.A1874T:p.K625M;ENSG00000134278:ENST00000453447:exon14:c.A1472T:p.K491M;ENSG00000134278:ENST00000410092:exon14:c.A1832T:p.K611M;ENSG00000134278:ENST00000309836:exon13:c.A1241T:p.K414M;	0.990508576395476	0.616
18	12452485	T	C	18	12452486	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.A1472G:p.K491R;SPIRE1:NM_020148:exon14:c.A1832G:p.K611R;SPIRE1:NM_001128626:exon15:c.A1874G:p.K625R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.A1874G:p.K625R;ENSG00000134278:ENST00000453447:exon14:c.A1472G:p.K491R;ENSG00000134278:ENST00000410092:exon14:c.A1832G:p.K611R;ENSG00000134278:ENST00000309836:exon13:c.A1241G:p.K414R;	0.994130555961049	0.876
18	12452485	T	G	18	12452486	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.A1472C:p.K491T;SPIRE1:NM_020148:exon14:c.A1832C:p.K611T;SPIRE1:NM_001128626:exon15:c.A1874C:p.K625T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.A1874C:p.K625T;ENSG00000134278:ENST00000453447:exon14:c.A1472C:p.K491T;ENSG00000134278:ENST00000410092:exon14:c.A1832C:p.K611T;ENSG00000134278:ENST00000309836:exon13:c.A1241C:p.K414T;	0.990567479551335	0.818
18	12452486	T	A	18	12452487	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon14:c.A1471T:p.K491X;SPIRE1:NM_020148:exon14:c.A1831T:p.K611X;SPIRE1:NM_001128626:exon15:c.A1873T:p.K625X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon15:c.A1873T:p.K625X;ENSG00000134278:ENST00000453447:exon14:c.A1471T:p.K491X;ENSG00000134278:ENST00000410092:exon14:c.A1831T:p.K611X;ENSG00000134278:ENST00000309836:exon13:c.A1240T:p.K414X;	0.979470547606873	0.704
18	12452486	T	C	18	12452487	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.A1471G:p.K491E;SPIRE1:NM_020148:exon14:c.A1831G:p.K611E;SPIRE1:NM_001128626:exon15:c.A1873G:p.K625E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.A1873G:p.K625E;ENSG00000134278:ENST00000453447:exon14:c.A1471G:p.K491E;ENSG00000134278:ENST00000410092:exon14:c.A1831G:p.K611E;ENSG00000134278:ENST00000309836:exon13:c.A1240G:p.K414E;	0.644191190264655	0.53
18	12452486	T	G	18	12452487	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.A1471C:p.K491Q;SPIRE1:NM_020148:exon14:c.A1831C:p.K611Q;SPIRE1:NM_001128626:exon15:c.A1873C:p.K625Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.A1873C:p.K625Q;ENSG00000134278:ENST00000453447:exon14:c.A1471C:p.K491Q;ENSG00000134278:ENST00000410092:exon14:c.A1831C:p.K611Q;ENSG00000134278:ENST00000309836:exon13:c.A1240C:p.K414Q;	0.905303356512285	0.704
18	12452510	G	A	18	12452511	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.C1447T:p.P483S;SPIRE1:NM_020148:exon14:c.C1807T:p.P603S;SPIRE1:NM_001128626:exon15:c.C1849T:p.P617S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.C1849T:p.P617S;ENSG00000134278:ENST00000453447:exon14:c.C1447T:p.P483S;ENSG00000134278:ENST00000410092:exon14:c.C1807T:p.P603S;ENSG00000134278:ENST00000309836:exon13:c.C1216T:p.P406S;	0.976285951047782	0.866
18	12452510	G	C	18	12452511	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.C1447G:p.P483A;SPIRE1:NM_020148:exon14:c.C1807G:p.P603A;SPIRE1:NM_001128626:exon15:c.C1849G:p.P617A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.C1849G:p.P617A;ENSG00000134278:ENST00000453447:exon14:c.C1447G:p.P483A;ENSG00000134278:ENST00000410092:exon14:c.C1807G:p.P603A;ENSG00000134278:ENST00000309836:exon13:c.C1216G:p.P406A;	0.984900798468024	0.694
18	12452510	G	T	18	12452511	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.C1447A:p.P483T;SPIRE1:NM_020148:exon14:c.C1807A:p.P603T;SPIRE1:NM_001128626:exon15:c.C1849A:p.P617T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.C1849A:p.P617T;ENSG00000134278:ENST00000453447:exon14:c.C1447A:p.P483T;ENSG00000134278:ENST00000410092:exon14:c.C1807A:p.P603T;ENSG00000134278:ENST00000309836:exon13:c.C1216A:p.P406T;	0.993824108016147	0.856
18	12452511	C	A	18	12452512	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.G1446T:p.R482S;SPIRE1:NM_020148:exon14:c.G1806T:p.R602S;SPIRE1:NM_001128626:exon15:c.G1848T:p.R616S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.G1848T:p.R616S;ENSG00000134278:ENST00000453447:exon14:c.G1446T:p.R482S;ENSG00000134278:ENST00000410092:exon14:c.G1806T:p.R602S;ENSG00000134278:ENST00000309836:exon13:c.G1215T:p.R405S;	0.969226107312217	0.902
18	12452511	C	G	18	12452512	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon14:c.G1446C:p.R482S;SPIRE1:NM_020148:exon14:c.G1806C:p.R602S;SPIRE1:NM_001128626:exon15:c.G1848C:p.R616S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.G1848C:p.R616S;ENSG00000134278:ENST00000453447:exon14:c.G1446C:p.R482S;ENSG00000134278:ENST00000410092:exon14:c.G1806C:p.R602S;ENSG00000134278:ENST00000309836:exon13:c.G1215C:p.R405S;	0.977419171730998	0.788
18	12452511	C	T	18	12452512	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon14:c.G1446A:p.R482R;SPIRE1:NM_020148:exon14:c.G1806A:p.R602R;SPIRE1:NM_001128626:exon15:c.G1848A:p.R616R;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon15:c.G1848A:p.R616R;ENSG00000134278:ENST00000453447:exon14:c.G1446A:p.R482R;ENSG00000134278:ENST00000410092:exon14:c.G1806A:p.R602R;ENSG00000134278:ENST00000309836:exon13:c.G1215A:p.R405R;	0.576314737894606	0.374
18	12452512	C	A	18	12452513	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1446-1G>T;NM_001128626:exon16:c.1848-1G>T;NM_020148:exon15:c.1806-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1848-1G>T;ENST00000410092:exon15:c.1806-1G>T;ENST00000309836:exon14:c.1215-1G>T;ENST00000453447:exon15:c.1446-1G>T;ENST00000592156:exon7:c.470-1G>T)	.	.	0.999990361384395	0.938
18	12452512	C	G	18	12452513	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1446-1G>C;NM_001128626:exon16:c.1848-1G>C;NM_020148:exon15:c.1806-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1848-1G>C;ENST00000410092:exon15:c.1806-1G>C;ENST00000309836:exon14:c.1215-1G>C;ENST00000453447:exon15:c.1446-1G>C;ENST00000592156:exon7:c.470-1G>C)	.	.	0.999990361384395	0.938
18	12452512	C	T	18	12452513	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1446-1G>A;NM_001128626:exon16:c.1848-1G>A;NM_020148:exon15:c.1806-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1848-1G>A;ENST00000410092:exon15:c.1806-1G>A;ENST00000309836:exon14:c.1215-1G>A;ENST00000453447:exon15:c.1446-1G>A;ENST00000592156:exon7:c.470-1G>A)	.	.	0.999990361384395	0.938
18	12452513	T	A	18	12452514	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1446-2A>T;NM_001128626:exon16:c.1848-2A>T;NM_020148:exon15:c.1806-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1848-2A>T;ENST00000410092:exon15:c.1806-2A>T;ENST00000309836:exon14:c.1215-2A>T;ENST00000453447:exon15:c.1446-2A>T;ENST00000592156:exon7:c.470-2A>T)	.	.	0.999988247793601	0.93
18	12452513	T	C	18	12452514	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1446-2A>G;NM_001128626:exon16:c.1848-2A>G;NM_020148:exon15:c.1806-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1848-2A>G;ENST00000410092:exon15:c.1806-2A>G;ENST00000309836:exon14:c.1215-2A>G;ENST00000453447:exon15:c.1446-2A>G;ENST00000592156:exon7:c.470-2A>G)	.	.	0.999988247793601	0.928
18	12452513	T	G	18	12452514	y	y	splicing	SPIRE1(NM_001128627:exon15:c.1446-2A>C;NM_001128626:exon16:c.1848-2A>C;NM_020148:exon15:c.1806-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon16:c.1848-2A>C;ENST00000410092:exon15:c.1806-2A>C;ENST00000309836:exon14:c.1215-2A>C;ENST00000453447:exon15:c.1446-2A>C;ENST00000592156:exon7:c.470-2A>C)	.	.	0.999988247793601	0.928
18	12452514	G	A	18	12452515	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.421808604153489	0.17
18	12452514	G	C	18	12452515	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999949128416929	0.808
18	12452514	G	T	18	12452515	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998508763240416	0.812
18	12452515	T	A	18	12452516	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.02700879791912E-4	0.016
18	12452515	T	C	18	12452516	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.14560334105879E-4	0.046
18	12452515	T	G	18	12452516	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.45562873732877E-5	0.092
18	12452516	A	C	18	12452517	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.289488391180267	0.46
18	12452516	A	G	18	12452517	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.08420493014926E-4	0.048
18	12452516	A	T	18	12452517	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.418111145822777	0.444
18	12452517	A	C	18	12452518	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.41038579712981E-4	0.106
18	12452517	A	G	18	12452518	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.8220159434605E-6	0.0
18	12452517	A	T	18	12452518	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.59769994960348E-4	0.08
18	12452518	A	C	18	12452519	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.283802945930271	0.452
18	12452518	A	G	18	12452519	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.17913328557101E-4	0.004
18	12452518	A	T	18	12452519	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.442174085625778	0.546
18	12452519	C	A	18	12452520	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.51052055688095E-5	0.002
18	12452519	C	G	18	12452520	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.90024666795152E-5	0.004
18	12452519	C	T	18	12452520	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.44512901389429E-5	0.006
18	12452520	A	C	18	12452521	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00684386267165529	0.226
18	12452520	A	G	18	12452521	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.71371979371988E-5	0.018
18	12452520	A	T	18	12452521	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.993047936110375	0.926
18	12452521	A	C	18	12452522	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0370174580920324	0.356
18	12452521	A	G	18	12452522	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.41967106793023E-4	0.0
18	12452521	A	T	18	12452522	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0873872734051933	0.376
18	12452522	A	C	18	12452523	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.245914331542241	0.468
18	12452522	A	G	18	12452523	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0169672088106849	0.202
18	12452522	A	T	18	12452523	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.353584159814509	0.458
18	12452523	A	C	18	12452524	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999667792784811	0.948
18	12452523	A	G	18	12452524	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00169003494388783	0.13
18	12452523	A	T	18	12452524	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.266425954043499	0.536
18	12453059	T	A	18	12453060	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.16270602352602E-4	0.002
18	12453059	T	C	18	12453060	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.5426913478112E-4	0.008
18	12453059	T	G	18	12453060	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.81622095912844E-5	0.018
18	12453060	A	C	18	12453061	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.2920705451824E-4	0.046
18	12453060	A	G	18	12453061	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.2920705451824E-4	0.044
18	12453060	A	T	18	12453061	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.61961510010392E-4	0.008
18	12453061	C	A	18	12453062	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.0055293349356E-5	0.002
18	12453061	C	G	18	12453062	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.86715401649304E-4	0.01
18	12453061	C	T	18	12453062	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.50990223677431E-4	0.01
18	12453062	C	A	18	12453063	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.41974957617172	0.524
18	12453062	C	G	18	12453063	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.437653182183962	0.516
18	12453062	C	T	18	12453063	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.470878878942709	0.526
18	12453063	T	A	18	12453064	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997827747771846	0.86
18	12453063	T	C	18	12453064	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998399007602634	0.88
18	12453063	T	G	18	12453064	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.994806037406765	0.856
18	12453064	T	A	18	12453065	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997651533173735	0.908
18	12453064	T	C	18	12453065	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.261983929436249	0.41
18	12453064	T	G	18	12453065	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998623469623304	0.948
18	12453065	A	C	18	12453066	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1445+2T>G;NM_001128626:exon15:c.1847+2T>G;NM_020148:exon14:c.1805+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1847+2T>G;ENST00000410092:exon14:c.1805+2T>G;ENST00000309836:exon13:c.1214+2T>G;ENST00000440472:exon15:c.1328+2T>G;ENST00000453447:exon14:c.1445+2T>G;ENST00000592156:exon6:c.469+2T>G;ENST00000383356:exon14:c.1328+2T>G)	.	.	0.999988247793601	0.932
18	12453065	A	G	18	12453066	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1445+2T>C;NM_001128626:exon15:c.1847+2T>C;NM_020148:exon14:c.1805+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1847+2T>C;ENST00000410092:exon14:c.1805+2T>C;ENST00000309836:exon13:c.1214+2T>C;ENST00000440472:exon15:c.1328+2T>C;ENST00000453447:exon14:c.1445+2T>C;ENST00000592156:exon6:c.469+2T>C;ENST00000383356:exon14:c.1328+2T>C)	.	.	0.995320650369382	0.716
18	12453065	A	T	18	12453066	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1445+2T>A;NM_001128626:exon15:c.1847+2T>A;NM_020148:exon14:c.1805+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1847+2T>A;ENST00000410092:exon14:c.1805+2T>A;ENST00000309836:exon13:c.1214+2T>A;ENST00000440472:exon15:c.1328+2T>A;ENST00000453447:exon14:c.1445+2T>A;ENST00000592156:exon6:c.469+2T>A;ENST00000383356:exon14:c.1328+2T>A)	.	.	0.999988247793601	0.932
18	12453066	C	A	18	12453067	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1445+1G>T;NM_001128626:exon15:c.1847+1G>T;NM_020148:exon14:c.1805+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1847+1G>T;ENST00000410092:exon14:c.1805+1G>T;ENST00000309836:exon13:c.1214+1G>T;ENST00000440472:exon15:c.1328+1G>T;ENST00000453447:exon14:c.1445+1G>T;ENST00000592156:exon6:c.469+1G>T;ENST00000383356:exon14:c.1328+1G>T)	.	.	0.999990361384395	0.938
18	12453066	C	G	18	12453067	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1445+1G>C;NM_001128626:exon15:c.1847+1G>C;NM_020148:exon14:c.1805+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1847+1G>C;ENST00000410092:exon14:c.1805+1G>C;ENST00000309836:exon13:c.1214+1G>C;ENST00000440472:exon15:c.1328+1G>C;ENST00000453447:exon14:c.1445+1G>C;ENST00000592156:exon6:c.469+1G>C;ENST00000383356:exon14:c.1328+1G>C)	.	.	0.999990361384395	0.938
18	12453066	C	T	18	12453067	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1445+1G>A;NM_001128626:exon15:c.1847+1G>A;NM_020148:exon14:c.1805+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1847+1G>A;ENST00000410092:exon14:c.1805+1G>A;ENST00000309836:exon13:c.1214+1G>A;ENST00000440472:exon15:c.1328+1G>A;ENST00000453447:exon14:c.1445+1G>A;ENST00000592156:exon6:c.469+1G>A;ENST00000383356:exon14:c.1328+1G>A)	.	.	0.999990361384395	0.938
18	12453067	C	A	18	12453068	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.G1445T:p.R482M;SPIRE1:NM_020148:exon13:c.G1805T:p.R602M;SPIRE1:NM_001128626:exon14:c.G1847T:p.R616M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.G1847T:p.R616M;ENSG00000134278:ENST00000440472:exon14:c.G1328T:p.S443I;ENSG00000134278:ENST00000383356:exon13:c.G1328T:p.S443I;ENSG00000134278:ENST00000453447:exon13:c.G1445T:p.R482M;ENSG00000134278:ENST00000410092:exon13:c.G1805T:p.R602M;ENSG00000134278:ENST00000309836:exon12:c.G1214T:p.R405M;	0.999985007705141	0.996
18	12453067	C	G	18	12453068	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.G1445C:p.R482T;SPIRE1:NM_020148:exon13:c.G1805C:p.R602T;SPIRE1:NM_001128626:exon14:c.G1847C:p.R616T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.G1847C:p.R616T;ENSG00000134278:ENST00000440472:exon14:c.G1328C:p.S443T;ENSG00000134278:ENST00000383356:exon13:c.G1328C:p.S443T;ENSG00000134278:ENST00000453447:exon13:c.G1445C:p.R482T;ENSG00000134278:ENST00000410092:exon13:c.G1805C:p.R602T;ENSG00000134278:ENST00000309836:exon12:c.G1214C:p.R405T;	0.999962384461069	0.888
18	12453067	C	T	18	12453068	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.G1445A:p.R482K;SPIRE1:NM_020148:exon13:c.G1805A:p.R602K;SPIRE1:NM_001128626:exon14:c.G1847A:p.R616K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.G1847A:p.R616K;ENSG00000134278:ENST00000440472:exon14:c.G1328A:p.S443N;ENSG00000134278:ENST00000383356:exon13:c.G1328A:p.S443N;ENSG00000134278:ENST00000453447:exon13:c.G1445A:p.R482K;ENSG00000134278:ENST00000410092:exon13:c.G1805A:p.R602K;ENSG00000134278:ENST00000309836:exon12:c.G1214A:p.R405K;	0.999988189994757	0.974
18	12453068	T	A	18	12453069	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.A1444T:p.R482W;SPIRE1:NM_020148:exon13:c.A1804T:p.R602W;SPIRE1:NM_001128626:exon14:c.A1846T:p.R616W;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.A1846T:p.R616W;ENSG00000134278:ENST00000440472:exon14:c.A1327T:p.S443C;ENSG00000134278:ENST00000383356:exon13:c.A1327T:p.S443C;ENSG00000134278:ENST00000453447:exon13:c.A1444T:p.R482W;ENSG00000134278:ENST00000410092:exon13:c.A1804T:p.R602W;ENSG00000134278:ENST00000309836:exon12:c.A1213T:p.R405W;	0.995509468186739	0.878
18	12453068	T	C	18	12453069	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.A1444G:p.R482G;SPIRE1:NM_020148:exon13:c.A1804G:p.R602G;SPIRE1:NM_001128626:exon14:c.A1846G:p.R616G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.A1846G:p.R616G;ENSG00000134278:ENST00000440472:exon14:c.A1327G:p.S443G;ENSG00000134278:ENST00000383356:exon13:c.A1327G:p.S443G;ENSG00000134278:ENST00000453447:exon13:c.A1444G:p.R482G;ENSG00000134278:ENST00000410092:exon13:c.A1804G:p.R602G;ENSG00000134278:ENST00000309836:exon12:c.A1213G:p.R405G;	0.99866555581201	0.948
18	12453068	T	G	18	12453069	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon13:c.A1444C:p.R482R;SPIRE1:NM_020148:exon13:c.A1804C:p.R602R;SPIRE1:NM_001128626:exon14:c.A1846C:p.R616R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000440472:exon14:c.A1327C:p.S443R;ENSG00000134278:ENST00000383356:exon13:c.A1327C:p.S443R;	0.987311924154418	0.9
18	12453069	C	A	18	12453070	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.G1443T:p.K481N;SPIRE1:NM_020148:exon13:c.G1803T:p.K601N;SPIRE1:NM_001128626:exon14:c.G1845T:p.K615N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.G1845T:p.K615N;ENSG00000134278:ENST00000440472:exon14:c.G1326T:p.K442N;ENSG00000134278:ENST00000383356:exon13:c.G1326T:p.K442N;ENSG00000134278:ENST00000453447:exon13:c.G1443T:p.K481N;ENSG00000134278:ENST00000410092:exon13:c.G1803T:p.K601N;ENSG00000134278:ENST00000309836:exon12:c.G1212T:p.K404N;	0.985287346964633	0.858
18	12453069	C	G	18	12453070	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.G1443C:p.K481N;SPIRE1:NM_020148:exon13:c.G1803C:p.K601N;SPIRE1:NM_001128626:exon14:c.G1845C:p.K615N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.G1845C:p.K615N;ENSG00000134278:ENST00000440472:exon14:c.G1326C:p.K442N;ENSG00000134278:ENST00000383356:exon13:c.G1326C:p.K442N;ENSG00000134278:ENST00000453447:exon13:c.G1443C:p.K481N;ENSG00000134278:ENST00000410092:exon13:c.G1803C:p.K601N;ENSG00000134278:ENST00000309836:exon12:c.G1212C:p.K404N;	0.964160354229872	0.77
18	12453069	C	T	18	12453070	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon13:c.G1443A:p.K481K;SPIRE1:NM_020148:exon13:c.G1803A:p.K601K;SPIRE1:NM_001128626:exon14:c.G1845A:p.K615K;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.G1845A:p.K615K;ENSG00000134278:ENST00000440472:exon14:c.G1326A:p.K442K;ENSG00000134278:ENST00000383356:exon13:c.G1326A:p.K442K;ENSG00000134278:ENST00000453447:exon13:c.G1443A:p.K481K;ENSG00000134278:ENST00000410092:exon13:c.G1803A:p.K601K;ENSG00000134278:ENST00000309836:exon12:c.G1212A:p.K404K;	0.254365111489112	0.316
18	12453136	A	C	18	12453137	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.T1376G:p.L459R;SPIRE1:NM_020148:exon13:c.T1736G:p.L579R;SPIRE1:NM_001128626:exon14:c.T1778G:p.L593R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.T1778G:p.L593R;ENSG00000134278:ENST00000440472:exon14:c.T1259G:p.L420R;ENSG00000134278:ENST00000383356:exon13:c.T1259G:p.L420R;ENSG00000134278:ENST00000453447:exon13:c.T1376G:p.L459R;ENSG00000134278:ENST00000410092:exon13:c.T1736G:p.L579R;ENSG00000134278:ENST00000309836:exon12:c.T1145G:p.L382R;	0.824072448553156	0.6
18	12453136	A	G	18	12453137	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.T1376C:p.L459P;SPIRE1:NM_020148:exon13:c.T1736C:p.L579P;SPIRE1:NM_001128626:exon14:c.T1778C:p.L593P;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.T1778C:p.L593P;ENSG00000134278:ENST00000440472:exon14:c.T1259C:p.L420P;ENSG00000134278:ENST00000383356:exon13:c.T1259C:p.L420P;ENSG00000134278:ENST00000453447:exon13:c.T1376C:p.L459P;ENSG00000134278:ENST00000410092:exon13:c.T1736C:p.L579P;ENSG00000134278:ENST00000309836:exon12:c.T1145C:p.L382P;	0.827100567927952	0.606
18	12453136	A	T	18	12453137	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.T1376A:p.L459H;SPIRE1:NM_020148:exon13:c.T1736A:p.L579H;SPIRE1:NM_001128626:exon14:c.T1778A:p.L593H;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.T1778A:p.L593H;ENSG00000134278:ENST00000440472:exon14:c.T1259A:p.L420H;ENSG00000134278:ENST00000383356:exon13:c.T1259A:p.L420H;ENSG00000134278:ENST00000453447:exon13:c.T1376A:p.L459H;ENSG00000134278:ENST00000410092:exon13:c.T1736A:p.L579H;ENSG00000134278:ENST00000309836:exon12:c.T1145A:p.L382H;	0.816939131441236	0.6
18	12453137	G	A	18	12453138	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.C1375T:p.L459F;SPIRE1:NM_020148:exon13:c.C1735T:p.L579F;SPIRE1:NM_001128626:exon14:c.C1777T:p.L593F;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.C1777T:p.L593F;ENSG00000134278:ENST00000440472:exon14:c.C1258T:p.L420F;ENSG00000134278:ENST00000383356:exon13:c.C1258T:p.L420F;ENSG00000134278:ENST00000453447:exon13:c.C1375T:p.L459F;ENSG00000134278:ENST00000410092:exon13:c.C1735T:p.L579F;ENSG00000134278:ENST00000309836:exon12:c.C1144T:p.L382F;	0.825868238471215	0.648
18	12453137	G	C	18	12453138	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.C1375G:p.L459V;SPIRE1:NM_020148:exon13:c.C1735G:p.L579V;SPIRE1:NM_001128626:exon14:c.C1777G:p.L593V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.C1777G:p.L593V;ENSG00000134278:ENST00000440472:exon14:c.C1258G:p.L420V;ENSG00000134278:ENST00000383356:exon13:c.C1258G:p.L420V;ENSG00000134278:ENST00000453447:exon13:c.C1375G:p.L459V;ENSG00000134278:ENST00000410092:exon13:c.C1735G:p.L579V;ENSG00000134278:ENST00000309836:exon12:c.C1144G:p.L382V;	0.00271166774028827	0.078
18	12453137	G	T	18	12453138	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon13:c.C1375A:p.L459I;SPIRE1:NM_020148:exon13:c.C1735A:p.L579I;SPIRE1:NM_001128626:exon14:c.C1777A:p.L593I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon14:c.C1777A:p.L593I;ENSG00000134278:ENST00000440472:exon14:c.C1258A:p.L420I;ENSG00000134278:ENST00000383356:exon13:c.C1258A:p.L420I;ENSG00000134278:ENST00000453447:exon13:c.C1375A:p.L459I;ENSG00000134278:ENST00000410092:exon13:c.C1735A:p.L579I;ENSG00000134278:ENST00000309836:exon12:c.C1144A:p.L382I;	3.22320722046901E-4	0.01
18	12453138	C	A	18	12453139	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1375-1G>T;NM_001128626:exon15:c.1777-1G>T;NM_020148:exon14:c.1735-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1777-1G>T;ENST00000410092:exon14:c.1735-1G>T;ENST00000309836:exon13:c.1144-1G>T;ENST00000440472:exon15:c.1258-1G>T;ENST00000453447:exon14:c.1375-1G>T;ENST00000592156:exon6:c.399-1G>T;ENST00000383356:exon14:c.1258-1G>T)	.	.	0.999990361384395	0.938
18	12453138	C	G	18	12453139	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1375-1G>C;NM_001128626:exon15:c.1777-1G>C;NM_020148:exon14:c.1735-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1777-1G>C;ENST00000410092:exon14:c.1735-1G>C;ENST00000309836:exon13:c.1144-1G>C;ENST00000440472:exon15:c.1258-1G>C;ENST00000453447:exon14:c.1375-1G>C;ENST00000592156:exon6:c.399-1G>C;ENST00000383356:exon14:c.1258-1G>C)	.	.	0.999990361384395	0.938
18	12453138	C	T	18	12453139	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1375-1G>A;NM_001128626:exon15:c.1777-1G>A;NM_020148:exon14:c.1735-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1777-1G>A;ENST00000410092:exon14:c.1735-1G>A;ENST00000309836:exon13:c.1144-1G>A;ENST00000440472:exon15:c.1258-1G>A;ENST00000453447:exon14:c.1375-1G>A;ENST00000592156:exon6:c.399-1G>A;ENST00000383356:exon14:c.1258-1G>A)	.	.	0.999990361384395	0.938
18	12453139	T	A	18	12453140	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1375-2A>T;NM_001128626:exon15:c.1777-2A>T;NM_020148:exon14:c.1735-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1777-2A>T;ENST00000410092:exon14:c.1735-2A>T;ENST00000309836:exon13:c.1144-2A>T;ENST00000440472:exon15:c.1258-2A>T;ENST00000453447:exon14:c.1375-2A>T;ENST00000592156:exon6:c.399-2A>T;ENST00000383356:exon14:c.1258-2A>T)	.	.	0.999988247793601	0.932
18	12453139	T	C	18	12453140	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1375-2A>G;NM_001128626:exon15:c.1777-2A>G;NM_020148:exon14:c.1735-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1777-2A>G;ENST00000410092:exon14:c.1735-2A>G;ENST00000309836:exon13:c.1144-2A>G;ENST00000440472:exon15:c.1258-2A>G;ENST00000453447:exon14:c.1375-2A>G;ENST00000592156:exon6:c.399-2A>G;ENST00000383356:exon14:c.1258-2A>G)	.	.	0.999988247793601	0.932
18	12453139	T	G	18	12453140	y	y	splicing	SPIRE1(NM_001128627:exon14:c.1375-2A>C;NM_001128626:exon15:c.1777-2A>C;NM_020148:exon14:c.1735-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon15:c.1777-2A>C;ENST00000410092:exon14:c.1735-2A>C;ENST00000309836:exon13:c.1144-2A>C;ENST00000440472:exon15:c.1258-2A>C;ENST00000453447:exon14:c.1375-2A>C;ENST00000592156:exon6:c.399-2A>C;ENST00000383356:exon14:c.1258-2A>C)	.	.	0.999988247793601	0.932
18	12453140	A	C	18	12453141	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999684048700914	0.89
18	12453140	A	G	18	12453141	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.89126069447139E-5	0.004
18	12453140	A	T	18	12453141	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0680087835587765	0.216
18	12453141	A	C	18	12453142	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00220808574934095	0.044
18	12453141	A	G	18	12453142	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.63974820849608E-4	0.0
18	12453141	A	T	18	12453142	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.58074337036487E-4	0.004
18	12453142	A	C	18	12453143	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.983933151371177	0.854
18	12453142	A	G	18	12453143	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0299819950576158	0.154
18	12453142	A	T	18	12453143	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.984409370923578	0.862
18	12453143	A	C	18	12453144	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.992555229139968	0.854
18	12453143	A	G	18	12453144	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0170482711188371	0.282
18	12453143	A	T	18	12453144	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997038646956807	0.85
18	12453144	A	C	18	12453145	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0115701563921448	0.262
18	12453144	A	G	18	12453145	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.97430617022263E-5	0.012
18	12453144	A	T	18	12453145	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0400074110477154	0.278
18	12453145	A	C	18	12453146	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999878703577818	0.948
18	12453145	A	G	18	12453146	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00758689903820699	0.112
18	12453145	A	T	18	12453146	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.941379092502462	0.558
18	12453146	T	A	18	12453147	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.88438450761716E-5	0.008
18	12453146	T	C	18	12453147	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.06644493561283E-4	0.012
18	12453146	T	G	18	12453147	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.43703508464414E-5	0.016
18	12453147	A	C	18	12453148	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.910721560064047	0.83
18	12453147	A	G	18	12453148	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0130410131057671	0.156
18	12453147	A	T	18	12453148	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.898868040332501	0.786
18	12453148	C	A	18	12453149	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.69944545871416E-4	0.06
18	12453148	C	G	18	12453149	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.06807839577578E-4	0.006
18	12453148	C	T	18	12453149	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.6783295148242E-4	0.024
18	12453149	A	C	18	12453150	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.836760250416745	0.684
18	12453149	A	G	18	12453150	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00211341530164827	0.08
18	12453149	A	T	18	12453150	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999947666513091	0.958
18	12454337	A	C	18	12454338	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.83974017201931E-4	0.016
18	12454337	A	G	18	12454338	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.83974017201931E-4	0.014
18	12454337	A	T	18	12454338	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.94259081575333E-5	0.0
18	12454338	G	A	18	12454339	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00714777415241499	0.044
18	12454338	G	C	18	12454339	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00986590372187304	0.046
18	12454338	G	T	18	12454339	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00322423299838218	0.04
18	12454339	C	A	18	12454340	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.27853623519952E-4	0.036
18	12454339	C	G	18	12454340	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.63143434128395E-4	0.178
18	12454339	C	T	18	12454340	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.56211886299404E-4	0.098
18	12454340	A	C	18	12454341	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.9725138039924E-4	0.064
18	12454340	A	G	18	12454341	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.25462995677791E-5	0.03
18	12454340	A	T	18	12454341	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.00416899758714E-4	0.016
18	12454341	C	A	18	12454342	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.87034996678727E-4	0.114
18	12454341	C	G	18	12454342	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.28936769175449E-4	0.278
18	12454341	C	T	18	12454342	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.9453602328617E-4	0.106
18	12454342	T	A	18	12454343	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999966600133756	0.982
18	12454342	T	C	18	12454343	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999848358288097	0.954
18	12454342	T	G	18	12454343	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999969835133696	0.898
18	12454343	A	C	18	12454344	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1374+2T>G;NM_001128626:exon14:c.1776+2T>G;NM_020148:exon13:c.1734+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1776+2T>G;ENST00000410092:exon13:c.1734+2T>G;ENST00000309836:exon12:c.1143+2T>G;ENST00000440472:exon14:c.1257+2T>G;ENST00000453447:exon13:c.1374+2T>G;ENST00000592156:exon5:c.398+2T>G;ENST00000383356:exon13:c.1257+2T>G)	.	.	0.999986741007567	0.946
18	12454343	A	G	18	12454344	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1374+2T>C;NM_001128626:exon14:c.1776+2T>C;NM_020148:exon13:c.1734+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1776+2T>C;ENST00000410092:exon13:c.1734+2T>C;ENST00000309836:exon12:c.1143+2T>C;ENST00000440472:exon14:c.1257+2T>C;ENST00000453447:exon13:c.1374+2T>C;ENST00000592156:exon5:c.398+2T>C;ENST00000383356:exon13:c.1257+2T>C)	.	.	0.993910579430363	0.708
18	12454343	A	T	18	12454344	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1374+2T>A;NM_001128626:exon14:c.1776+2T>A;NM_020148:exon13:c.1734+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1776+2T>A;ENST00000410092:exon13:c.1734+2T>A;ENST00000309836:exon12:c.1143+2T>A;ENST00000440472:exon14:c.1257+2T>A;ENST00000453447:exon13:c.1374+2T>A;ENST00000592156:exon5:c.398+2T>A;ENST00000383356:exon13:c.1257+2T>A)	.	.	0.999986741007567	0.946
18	12454344	C	A	18	12454345	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1374+1G>T;NM_001128626:exon14:c.1776+1G>T;NM_020148:exon13:c.1734+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1776+1G>T;ENST00000410092:exon13:c.1734+1G>T;ENST00000309836:exon12:c.1143+1G>T;ENST00000440472:exon14:c.1257+1G>T;ENST00000453447:exon13:c.1374+1G>T;ENST00000592156:exon5:c.398+1G>T;ENST00000383356:exon13:c.1257+1G>T)	.	.	0.999989125585301	0.944
18	12454344	C	G	18	12454345	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1374+1G>C;NM_001128626:exon14:c.1776+1G>C;NM_020148:exon13:c.1734+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1776+1G>C;ENST00000410092:exon13:c.1734+1G>C;ENST00000309836:exon12:c.1143+1G>C;ENST00000440472:exon14:c.1257+1G>C;ENST00000453447:exon13:c.1374+1G>C;ENST00000592156:exon5:c.398+1G>C;ENST00000383356:exon13:c.1257+1G>C)	.	.	0.999989125585301	0.944
18	12454344	C	T	18	12454345	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1374+1G>A;NM_001128626:exon14:c.1776+1G>A;NM_020148:exon13:c.1734+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1776+1G>A;ENST00000410092:exon13:c.1734+1G>A;ENST00000309836:exon12:c.1143+1G>A;ENST00000440472:exon14:c.1257+1G>A;ENST00000453447:exon13:c.1374+1G>A;ENST00000592156:exon5:c.398+1G>A;ENST00000383356:exon13:c.1257+1G>A)	.	.	0.999989125585301	0.944
18	12454345	C	A	18	12454346	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.G1374T:p.K458N;SPIRE1:NM_020148:exon12:c.G1734T:p.K578N;SPIRE1:NM_001128626:exon13:c.G1776T:p.K592N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.G1776T:p.K592N;ENSG00000134278:ENST00000440472:exon13:c.G1257T:p.K419N;ENSG00000134278:ENST00000383356:exon12:c.G1257T:p.K419N;ENSG00000134278:ENST00000453447:exon12:c.G1374T:p.K458N;ENSG00000134278:ENST00000410092:exon12:c.G1734T:p.K578N;ENSG00000134278:ENST00000309836:exon11:c.G1143T:p.K381N;	0.999993616571674	1.0
18	12454345	C	G	18	12454346	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.G1374C:p.K458N;SPIRE1:NM_020148:exon12:c.G1734C:p.K578N;SPIRE1:NM_001128626:exon13:c.G1776C:p.K592N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.G1776C:p.K592N;ENSG00000134278:ENST00000440472:exon13:c.G1257C:p.K419N;ENSG00000134278:ENST00000383356:exon12:c.G1257C:p.K419N;ENSG00000134278:ENST00000453447:exon12:c.G1374C:p.K458N;ENSG00000134278:ENST00000410092:exon12:c.G1734C:p.K578N;ENSG00000134278:ENST00000309836:exon11:c.G1143C:p.K381N;	0.999997021997492	1.0
18	12454345	C	T	18	12454346	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon12:c.G1374A:p.K458K;SPIRE1:NM_020148:exon12:c.G1734A:p.K578K;SPIRE1:NM_001128626:exon13:c.G1776A:p.K592K;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.G1776A:p.K592K;ENSG00000134278:ENST00000440472:exon13:c.G1257A:p.K419K;ENSG00000134278:ENST00000383356:exon12:c.G1257A:p.K419K;ENSG00000134278:ENST00000453447:exon12:c.G1374A:p.K458K;ENSG00000134278:ENST00000410092:exon12:c.G1734A:p.K578K;ENSG00000134278:ENST00000309836:exon11:c.G1143A:p.K381K;	0.999975417478774	1.0
18	12454346	T	A	18	12454347	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.A1373T:p.K458M;SPIRE1:NM_020148:exon12:c.A1733T:p.K578M;SPIRE1:NM_001128626:exon13:c.A1775T:p.K592M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.A1775T:p.K592M;ENSG00000134278:ENST00000440472:exon13:c.A1256T:p.K419M;ENSG00000134278:ENST00000383356:exon12:c.A1256T:p.K419M;ENSG00000134278:ENST00000453447:exon12:c.A1373T:p.K458M;ENSG00000134278:ENST00000410092:exon12:c.A1733T:p.K578M;ENSG00000134278:ENST00000309836:exon11:c.A1142T:p.K381M;	0.999981652586064	1.0
18	12454346	T	C	18	12454347	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.A1373G:p.K458R;SPIRE1:NM_020148:exon12:c.A1733G:p.K578R;SPIRE1:NM_001128626:exon13:c.A1775G:p.K592R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.A1775G:p.K592R;ENSG00000134278:ENST00000440472:exon13:c.A1256G:p.K419R;ENSG00000134278:ENST00000383356:exon12:c.A1256G:p.K419R;ENSG00000134278:ENST00000453447:exon12:c.A1373G:p.K458R;ENSG00000134278:ENST00000410092:exon12:c.A1733G:p.K578R;ENSG00000134278:ENST00000309836:exon11:c.A1142G:p.K381R;	0.999978641802667	1.0
18	12454346	T	G	18	12454347	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.A1373C:p.K458T;SPIRE1:NM_020148:exon12:c.A1733C:p.K578T;SPIRE1:NM_001128626:exon13:c.A1775C:p.K592T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.A1775C:p.K592T;ENSG00000134278:ENST00000440472:exon13:c.A1256C:p.K419T;ENSG00000134278:ENST00000383356:exon12:c.A1256C:p.K419T;ENSG00000134278:ENST00000453447:exon12:c.A1373C:p.K458T;ENSG00000134278:ENST00000410092:exon12:c.A1733C:p.K578T;ENSG00000134278:ENST00000309836:exon11:c.A1142C:p.K381T;	0.999959282155378	0.998
18	12454347	T	A	18	12454348	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon12:c.A1372T:p.K458X;SPIRE1:NM_020148:exon12:c.A1732T:p.K578X;SPIRE1:NM_001128626:exon13:c.A1774T:p.K592X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon13:c.A1774T:p.K592X;ENSG00000134278:ENST00000440472:exon13:c.A1255T:p.K419X;ENSG00000134278:ENST00000383356:exon12:c.A1255T:p.K419X;ENSG00000134278:ENST00000453447:exon12:c.A1372T:p.K458X;ENSG00000134278:ENST00000410092:exon12:c.A1732T:p.K578X;ENSG00000134278:ENST00000309836:exon11:c.A1141T:p.K381X;	0.999585428933828	0.916
18	12454347	T	C	18	12454348	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.A1372G:p.K458E;SPIRE1:NM_020148:exon12:c.A1732G:p.K578E;SPIRE1:NM_001128626:exon13:c.A1774G:p.K592E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.A1774G:p.K592E;ENSG00000134278:ENST00000440472:exon13:c.A1255G:p.K419E;ENSG00000134278:ENST00000383356:exon12:c.A1255G:p.K419E;ENSG00000134278:ENST00000453447:exon12:c.A1372G:p.K458E;ENSG00000134278:ENST00000410092:exon12:c.A1732G:p.K578E;ENSG00000134278:ENST00000309836:exon11:c.A1141G:p.K381E;	0.955914232722578	0.6
18	12454347	T	G	18	12454348	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.A1372C:p.K458Q;SPIRE1:NM_020148:exon12:c.A1732C:p.K578Q;SPIRE1:NM_001128626:exon13:c.A1774C:p.K592Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.A1774C:p.K592Q;ENSG00000134278:ENST00000440472:exon13:c.A1255C:p.K419Q;ENSG00000134278:ENST00000383356:exon12:c.A1255C:p.K419Q;ENSG00000134278:ENST00000453447:exon12:c.A1372C:p.K458Q;ENSG00000134278:ENST00000410092:exon12:c.A1732C:p.K578Q;ENSG00000134278:ENST00000309836:exon11:c.A1141C:p.K381Q;	0.901080827781842	0.746
18	12454481	T	A	18	12454482	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.A1238T:p.E413V;SPIRE1:NM_020148:exon12:c.A1598T:p.E533V;SPIRE1:NM_001128626:exon13:c.A1640T:p.E547V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.A1640T:p.E547V;ENSG00000134278:ENST00000440472:exon13:c.A1121T:p.E374V;ENSG00000134278:ENST00000383356:exon12:c.A1121T:p.E374V;ENSG00000134278:ENST00000453447:exon12:c.A1238T:p.E413V;ENSG00000134278:ENST00000410092:exon12:c.A1598T:p.E533V;ENSG00000134278:ENST00000309836:exon11:c.A1007T:p.E336V;	0.901080827781842	0.798
18	12454481	T	C	18	12454482	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.A1238G:p.E413G;SPIRE1:NM_020148:exon12:c.A1598G:p.E533G;SPIRE1:NM_001128626:exon13:c.A1640G:p.E547G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.A1640G:p.E547G;ENSG00000134278:ENST00000440472:exon13:c.A1121G:p.E374G;ENSG00000134278:ENST00000383356:exon12:c.A1121G:p.E374G;ENSG00000134278:ENST00000453447:exon12:c.A1238G:p.E413G;ENSG00000134278:ENST00000410092:exon12:c.A1598G:p.E533G;ENSG00000134278:ENST00000309836:exon11:c.A1007G:p.E336G;	0.895201357916953	0.684
18	12454481	T	G	18	12454482	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.A1238C:p.E413A;SPIRE1:NM_020148:exon12:c.A1598C:p.E533A;SPIRE1:NM_001128626:exon13:c.A1640C:p.E547A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.A1640C:p.E547A;ENSG00000134278:ENST00000440472:exon13:c.A1121C:p.E374A;ENSG00000134278:ENST00000383356:exon12:c.A1121C:p.E374A;ENSG00000134278:ENST00000453447:exon12:c.A1238C:p.E413A;ENSG00000134278:ENST00000410092:exon12:c.A1598C:p.E533A;ENSG00000134278:ENST00000309836:exon11:c.A1007C:p.E336A;	0.937234249193207	0.844
18	12454482	C	A	18	12454483	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon12:c.G1237T:p.E413X;SPIRE1:NM_020148:exon12:c.G1597T:p.E533X;SPIRE1:NM_001128626:exon13:c.G1639T:p.E547X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon13:c.G1639T:p.E547X;ENSG00000134278:ENST00000440472:exon13:c.G1120T:p.E374X;ENSG00000134278:ENST00000383356:exon12:c.G1120T:p.E374X;ENSG00000134278:ENST00000453447:exon12:c.G1237T:p.E413X;ENSG00000134278:ENST00000410092:exon12:c.G1597T:p.E533X;ENSG00000134278:ENST00000309836:exon11:c.G1006T:p.E336X;	0.999951329032086	0.992
18	12454482	C	G	18	12454483	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.G1237C:p.E413Q;SPIRE1:NM_020148:exon12:c.G1597C:p.E533Q;SPIRE1:NM_001128626:exon13:c.G1639C:p.E547Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.G1639C:p.E547Q;ENSG00000134278:ENST00000440472:exon13:c.G1120C:p.E374Q;ENSG00000134278:ENST00000383356:exon12:c.G1120C:p.E374Q;ENSG00000134278:ENST00000453447:exon12:c.G1237C:p.E413Q;ENSG00000134278:ENST00000410092:exon12:c.G1597C:p.E533Q;ENSG00000134278:ENST00000309836:exon11:c.G1006C:p.E336Q;	0.999897690858863	0.978
18	12454482	C	T	18	12454483	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon12:c.G1237A:p.E413K;SPIRE1:NM_020148:exon12:c.G1597A:p.E533K;SPIRE1:NM_001128626:exon13:c.G1639A:p.E547K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon13:c.G1639A:p.E547K;ENSG00000134278:ENST00000440472:exon13:c.G1120A:p.E374K;ENSG00000134278:ENST00000383356:exon12:c.G1120A:p.E374K;ENSG00000134278:ENST00000453447:exon12:c.G1237A:p.E413K;ENSG00000134278:ENST00000410092:exon12:c.G1597A:p.E533K;ENSG00000134278:ENST00000309836:exon11:c.G1006A:p.E336K;	0.999829278547308	0.892
18	12454483	C	A	18	12454484	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1237-1G>T;NM_001128626:exon14:c.1639-1G>T;NM_020148:exon13:c.1597-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1639-1G>T;ENST00000410092:exon13:c.1597-1G>T;ENST00000309836:exon12:c.1006-1G>T;ENST00000440472:exon14:c.1120-1G>T;ENST00000453447:exon13:c.1237-1G>T;ENST00000592156:exon5:c.261-1G>T;ENST00000383356:exon13:c.1120-1G>T)	.	.	0.999989125585301	0.944
18	12454483	C	G	18	12454484	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1237-1G>C;NM_001128626:exon14:c.1639-1G>C;NM_020148:exon13:c.1597-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1639-1G>C;ENST00000410092:exon13:c.1597-1G>C;ENST00000309836:exon12:c.1006-1G>C;ENST00000440472:exon14:c.1120-1G>C;ENST00000453447:exon13:c.1237-1G>C;ENST00000592156:exon5:c.261-1G>C;ENST00000383356:exon13:c.1120-1G>C)	.	.	0.999989125585301	0.944
18	12454483	C	T	18	12454484	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1237-1G>A;NM_001128626:exon14:c.1639-1G>A;NM_020148:exon13:c.1597-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1639-1G>A;ENST00000410092:exon13:c.1597-1G>A;ENST00000309836:exon12:c.1006-1G>A;ENST00000440472:exon14:c.1120-1G>A;ENST00000453447:exon13:c.1237-1G>A;ENST00000592156:exon5:c.261-1G>A;ENST00000383356:exon13:c.1120-1G>A)	.	.	0.999989125585301	0.944
18	12454484	T	A	18	12454485	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1237-2A>T;NM_001128626:exon14:c.1639-2A>T;NM_020148:exon13:c.1597-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1639-2A>T;ENST00000410092:exon13:c.1597-2A>T;ENST00000309836:exon12:c.1006-2A>T;ENST00000440472:exon14:c.1120-2A>T;ENST00000453447:exon13:c.1237-2A>T;ENST00000592156:exon5:c.261-2A>T;ENST00000383356:exon13:c.1120-2A>T)	.	.	0.999986741007567	0.946
18	12454484	T	C	18	12454485	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1237-2A>G;NM_001128626:exon14:c.1639-2A>G;NM_020148:exon13:c.1597-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1639-2A>G;ENST00000410092:exon13:c.1597-2A>G;ENST00000309836:exon12:c.1006-2A>G;ENST00000440472:exon14:c.1120-2A>G;ENST00000453447:exon13:c.1237-2A>G;ENST00000592156:exon5:c.261-2A>G;ENST00000383356:exon13:c.1120-2A>G)	.	.	0.999986741007567	0.946
18	12454484	T	G	18	12454485	y	y	splicing	SPIRE1(NM_001128627:exon13:c.1237-2A>C;NM_001128626:exon14:c.1639-2A>C;NM_020148:exon13:c.1597-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon14:c.1639-2A>C;ENST00000410092:exon13:c.1597-2A>C;ENST00000309836:exon12:c.1006-2A>C;ENST00000440472:exon14:c.1120-2A>C;ENST00000453447:exon13:c.1237-2A>C;ENST00000592156:exon5:c.261-2A>C;ENST00000383356:exon13:c.1120-2A>C)	.	.	0.999986741007567	0.946
18	12454485	G	A	18	12454486	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.976545590585976	0.476
18	12454485	G	C	18	12454486	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999939256566382	0.926
18	12454485	G	T	18	12454486	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99990610743592	0.928
18	12454486	A	C	18	12454487	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.77909820319124E-4	0.046
18	12454486	A	G	18	12454487	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.11642044354708E-4	0.046
18	12454486	A	T	18	12454487	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.94253055640983E-4	0.016
18	12454487	A	C	18	12454488	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998034487496604	0.908
18	12454487	A	G	18	12454488	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.93954649098495	0.572
18	12454487	A	T	18	12454488	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999487912153514	0.926
18	12454488	A	C	18	12454489	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999926836155078	0.964
18	12454488	A	G	18	12454489	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.582489178273477	0.488
18	12454488	A	T	18	12454489	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.994524770132504	0.866
18	12454489	T	A	18	12454490	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.7438394674264E-5	0.04
18	12454489	T	C	18	12454490	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999129168739142	0.97
18	12454489	T	G	18	12454490	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.93569972598795E-5	0.04
18	12454490	T	A	18	12454491	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.73672090656033E-4	0.04
18	12454490	T	C	18	12454491	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.28854597463176E-4	0.034
18	12454490	T	G	18	12454491	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.60224307233272E-5	0.022
18	12454491	C	A	18	12454492	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.964340186995181	0.722
18	12454491	C	G	18	12454492	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.961786460867874	0.756
18	12454491	C	T	18	12454492	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.992547841070908	0.83
18	12454492	A	C	18	12454493	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999657269547352	0.934
18	12454492	A	G	18	12454493	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.94510770683992	0.5
18	12454492	A	T	18	12454493	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999979161096593	0.97
18	12454493	A	C	18	12454494	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.990288872497876	0.812
18	12454493	A	G	18	12454494	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.633768683830714	0.392
18	12454493	A	T	18	12454494	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997584087955368	0.898
18	12454494	A	C	18	12454495	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.644010469410144	0.496
18	12454494	A	G	18	12454495	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.43898704687663E-4	0.136
18	12454494	A	T	18	12454495	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.631408178258216	0.488
18	12463342	G	A	18	12463343	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.29508689408969E-4	0.004
18	12463342	G	C	18	12463343	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00171851997282737	0.016
18	12463342	G	T	18	12463343	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.1911511887652E-4	0.004
18	12463343	T	A	18	12463344	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00324496955961305	0.002
18	12463343	T	C	18	12463344	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00448185371465606	0.0
18	12463343	T	G	18	12463344	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00460077730518419	0.0
18	12463344	A	C	18	12463345	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.986718157991693	0.844
18	12463344	A	G	18	12463345	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.93353935881758	0.82
18	12463344	A	T	18	12463345	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.988137142940221	0.718
18	12463345	C	A	18	12463346	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999960318116965	0.992
18	12463345	C	G	18	12463346	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999980783910809	0.978
18	12463345	C	T	18	12463346	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999958006845191	0.992
18	12463346	T	A	18	12463347	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998296432494803	0.93
18	12463346	T	C	18	12463347	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997857412611091	0.976
18	12463346	T	G	18	12463347	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.996333099937355	0.86
18	12463347	T	A	18	12463348	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999894490122238	0.96
18	12463347	T	C	18	12463348	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0293339188552016	0.302
18	12463347	T	G	18	12463348	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99985609994423	0.932
18	12463348	A	C	18	12463349	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1236+2T>G;NM_001128626:exon13:c.1638+2T>G;NM_020148:exon12:c.1596+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1638+2T>G;ENST00000410092:exon12:c.1596+2T>G;ENST00000309836:exon11:c.1005+2T>G;ENST00000440472:exon13:c.1119+2T>G;ENST00000453447:exon12:c.1236+2T>G;ENST00000383356:exon12:c.1119+2T>G)	.	.	0.999988247793601	0.93
18	12463348	A	G	18	12463349	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1236+2T>C;NM_001128626:exon13:c.1638+2T>C;NM_020148:exon12:c.1596+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1638+2T>C;ENST00000410092:exon12:c.1596+2T>C;ENST00000309836:exon11:c.1005+2T>C;ENST00000440472:exon13:c.1119+2T>C;ENST00000453447:exon12:c.1236+2T>C;ENST00000383356:exon12:c.1119+2T>C)	.	.	0.994669226766359	0.662
18	12463348	A	T	18	12463349	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1236+2T>A;NM_001128626:exon13:c.1638+2T>A;NM_020148:exon12:c.1596+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1638+2T>A;ENST00000410092:exon12:c.1596+2T>A;ENST00000309836:exon11:c.1005+2T>A;ENST00000440472:exon13:c.1119+2T>A;ENST00000453447:exon12:c.1236+2T>A;ENST00000383356:exon12:c.1119+2T>A)	.	.	0.999988247793601	0.93
18	12463349	C	A	18	12463350	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1236+1G>T;NM_001128626:exon13:c.1638+1G>T;NM_020148:exon12:c.1596+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1638+1G>T;ENST00000410092:exon12:c.1596+1G>T;ENST00000309836:exon11:c.1005+1G>T;ENST00000440472:exon13:c.1119+1G>T;ENST00000453447:exon12:c.1236+1G>T;ENST00000383356:exon12:c.1119+1G>T)	.	.	0.999989072007339	0.934
18	12463349	C	G	18	12463350	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1236+1G>C;NM_001128626:exon13:c.1638+1G>C;NM_020148:exon12:c.1596+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1638+1G>C;ENST00000410092:exon12:c.1596+1G>C;ENST00000309836:exon11:c.1005+1G>C;ENST00000440472:exon13:c.1119+1G>C;ENST00000453447:exon12:c.1236+1G>C;ENST00000383356:exon12:c.1119+1G>C)	.	.	0.999989072007339	0.934
18	12463349	C	T	18	12463350	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1236+1G>A;NM_001128626:exon13:c.1638+1G>A;NM_020148:exon12:c.1596+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1638+1G>A;ENST00000410092:exon12:c.1596+1G>A;ENST00000309836:exon11:c.1005+1G>A;ENST00000440472:exon13:c.1119+1G>A;ENST00000453447:exon12:c.1236+1G>A;ENST00000383356:exon12:c.1119+1G>A)	.	.	0.999989072007339	0.934
18	12463350	A	C	18	12463351	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon11:c.T1236G:p.L412L;SPIRE1:NM_020148:exon11:c.T1596G:p.L532L;SPIRE1:NM_001128626:exon12:c.T1638G:p.L546L;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.T1638G:p.L546L;ENSG00000134278:ENST00000440472:exon12:c.T1119G:p.L373L;ENSG00000134278:ENST00000383356:exon11:c.T1119G:p.L373L;ENSG00000134278:ENST00000453447:exon11:c.T1236G:p.L412L;ENSG00000134278:ENST00000410092:exon11:c.T1596G:p.L532L;ENSG00000134278:ENST00000309836:exon10:c.T1005G:p.L335L;	2.70001976526597E-4	0.126
18	12463350	A	G	18	12463351	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon11:c.T1236C:p.L412L;SPIRE1:NM_020148:exon11:c.T1596C:p.L532L;SPIRE1:NM_001128626:exon12:c.T1638C:p.L546L;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.T1638C:p.L546L;ENSG00000134278:ENST00000440472:exon12:c.T1119C:p.L373L;ENSG00000134278:ENST00000383356:exon11:c.T1119C:p.L373L;ENSG00000134278:ENST00000453447:exon11:c.T1236C:p.L412L;ENSG00000134278:ENST00000410092:exon11:c.T1596C:p.L532L;ENSG00000134278:ENST00000309836:exon10:c.T1005C:p.L335L;	4.0666528657082E-4	0.056
18	12463350	A	T	18	12463351	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon11:c.T1236A:p.L412L;SPIRE1:NM_020148:exon11:c.T1596A:p.L532L;SPIRE1:NM_001128626:exon12:c.T1638A:p.L546L;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.T1638A:p.L546L;ENSG00000134278:ENST00000440472:exon12:c.T1119A:p.L373L;ENSG00000134278:ENST00000383356:exon11:c.T1119A:p.L373L;ENSG00000134278:ENST00000453447:exon11:c.T1236A:p.L412L;ENSG00000134278:ENST00000410092:exon11:c.T1596A:p.L532L;ENSG00000134278:ENST00000309836:exon10:c.T1005A:p.L335L;	9.3138230441626E-5	0.008
18	12463351	A	C	18	12463352	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.T1235G:p.L412R;SPIRE1:NM_020148:exon11:c.T1595G:p.L532R;SPIRE1:NM_001128626:exon12:c.T1637G:p.L546R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.T1637G:p.L546R;ENSG00000134278:ENST00000440472:exon12:c.T1118G:p.L373R;ENSG00000134278:ENST00000383356:exon11:c.T1118G:p.L373R;ENSG00000134278:ENST00000453447:exon11:c.T1235G:p.L412R;ENSG00000134278:ENST00000410092:exon11:c.T1595G:p.L532R;ENSG00000134278:ENST00000309836:exon10:c.T1004G:p.L335R;	0.952241301585169	0.78
18	12463351	A	G	18	12463352	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.T1235C:p.L412P;SPIRE1:NM_020148:exon11:c.T1595C:p.L532P;SPIRE1:NM_001128626:exon12:c.T1637C:p.L546P;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.T1637C:p.L546P;ENSG00000134278:ENST00000440472:exon12:c.T1118C:p.L373P;ENSG00000134278:ENST00000383356:exon11:c.T1118C:p.L373P;ENSG00000134278:ENST00000453447:exon11:c.T1235C:p.L412P;ENSG00000134278:ENST00000410092:exon11:c.T1595C:p.L532P;ENSG00000134278:ENST00000309836:exon10:c.T1004C:p.L335P;	0.769164081824883	0.748
18	12463351	A	T	18	12463352	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.T1235A:p.L412H;SPIRE1:NM_020148:exon11:c.T1595A:p.L532H;SPIRE1:NM_001128626:exon12:c.T1637A:p.L546H;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.T1637A:p.L546H;ENSG00000134278:ENST00000440472:exon12:c.T1118A:p.L373H;ENSG00000134278:ENST00000383356:exon11:c.T1118A:p.L373H;ENSG00000134278:ENST00000453447:exon11:c.T1235A:p.L412H;ENSG00000134278:ENST00000410092:exon11:c.T1595A:p.L532H;ENSG00000134278:ENST00000309836:exon10:c.T1004A:p.L335H;	0.723018039377575	0.6
18	12463352	G	A	18	12463353	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.C1234T:p.L412F;SPIRE1:NM_020148:exon11:c.C1594T:p.L532F;SPIRE1:NM_001128626:exon12:c.C1636T:p.L546F;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.C1636T:p.L546F;ENSG00000134278:ENST00000440472:exon12:c.C1117T:p.L373F;ENSG00000134278:ENST00000383356:exon11:c.C1117T:p.L373F;ENSG00000134278:ENST00000453447:exon11:c.C1234T:p.L412F;ENSG00000134278:ENST00000410092:exon11:c.C1594T:p.L532F;ENSG00000134278:ENST00000309836:exon10:c.C1003T:p.L335F;	0.999292404018586	0.822
18	12463352	G	C	18	12463353	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.C1234G:p.L412V;SPIRE1:NM_020148:exon11:c.C1594G:p.L532V;SPIRE1:NM_001128626:exon12:c.C1636G:p.L546V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.C1636G:p.L546V;ENSG00000134278:ENST00000440472:exon12:c.C1117G:p.L373V;ENSG00000134278:ENST00000383356:exon11:c.C1117G:p.L373V;ENSG00000134278:ENST00000453447:exon11:c.C1234G:p.L412V;ENSG00000134278:ENST00000410092:exon11:c.C1594G:p.L532V;ENSG00000134278:ENST00000309836:exon10:c.C1003G:p.L335V;	0.0541498273127028	0.104
18	12463352	G	T	18	12463353	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.C1234A:p.L412I;SPIRE1:NM_020148:exon11:c.C1594A:p.L532I;SPIRE1:NM_001128626:exon12:c.C1636A:p.L546I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.C1636A:p.L546I;ENSG00000134278:ENST00000440472:exon12:c.C1117A:p.L373I;ENSG00000134278:ENST00000383356:exon11:c.C1117A:p.L373I;ENSG00000134278:ENST00000453447:exon11:c.C1234A:p.L412I;ENSG00000134278:ENST00000410092:exon11:c.C1594A:p.L532I;ENSG00000134278:ENST00000309836:exon10:c.C1003A:p.L335I;	0.964649887478542	0.754
18	12463491	C	A	18	12463492	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.G1095T:p.K365N;SPIRE1:NM_020148:exon11:c.G1455T:p.K485N;SPIRE1:NM_001128626:exon12:c.G1497T:p.K499N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.G1497T:p.K499N;ENSG00000134278:ENST00000440472:exon12:c.G978T:p.K326N;ENSG00000134278:ENST00000383356:exon11:c.G978T:p.K326N;ENSG00000134278:ENST00000453447:exon11:c.G1095T:p.K365N;ENSG00000134278:ENST00000410092:exon11:c.G1455T:p.K485N;ENSG00000134278:ENST00000309836:exon10:c.G864T:p.K288N;	1.23032672071024E-4	0.008
18	12463491	C	G	18	12463492	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.G1095C:p.K365N;SPIRE1:NM_020148:exon11:c.G1455C:p.K485N;SPIRE1:NM_001128626:exon12:c.G1497C:p.K499N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.G1497C:p.K499N;ENSG00000134278:ENST00000440472:exon12:c.G978C:p.K326N;ENSG00000134278:ENST00000383356:exon11:c.G978C:p.K326N;ENSG00000134278:ENST00000453447:exon11:c.G1095C:p.K365N;ENSG00000134278:ENST00000410092:exon11:c.G1455C:p.K485N;ENSG00000134278:ENST00000309836:exon10:c.G864C:p.K288N;	9.04531784604516E-5	0.004
18	12463491	C	T	18	12463492	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon11:c.G1095A:p.K365K;SPIRE1:NM_020148:exon11:c.G1455A:p.K485K;SPIRE1:NM_001128626:exon12:c.G1497A:p.K499K;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.G1497A:p.K499K;ENSG00000134278:ENST00000440472:exon12:c.G978A:p.K326K;ENSG00000134278:ENST00000383356:exon11:c.G978A:p.K326K;ENSG00000134278:ENST00000453447:exon11:c.G1095A:p.K365K;ENSG00000134278:ENST00000410092:exon11:c.G1455A:p.K485K;ENSG00000134278:ENST00000309836:exon10:c.G864A:p.K288K;	1.61820622093485E-4	0.006
18	12463492	T	A	18	12463493	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.A1094T:p.K365M;SPIRE1:NM_020148:exon11:c.A1454T:p.K485M;SPIRE1:NM_001128626:exon12:c.A1496T:p.K499M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.A1496T:p.K499M;ENSG00000134278:ENST00000440472:exon12:c.A977T:p.K326M;ENSG00000134278:ENST00000383356:exon11:c.A977T:p.K326M;ENSG00000134278:ENST00000453447:exon11:c.A1094T:p.K365M;ENSG00000134278:ENST00000410092:exon11:c.A1454T:p.K485M;ENSG00000134278:ENST00000309836:exon10:c.A863T:p.K288M;	0.00182194122567526	0.112
18	12463492	T	C	18	12463493	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.A1094G:p.K365R;SPIRE1:NM_020148:exon11:c.A1454G:p.K485R;SPIRE1:NM_001128626:exon12:c.A1496G:p.K499R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.A1496G:p.K499R;ENSG00000134278:ENST00000440472:exon12:c.A977G:p.K326R;ENSG00000134278:ENST00000383356:exon11:c.A977G:p.K326R;ENSG00000134278:ENST00000453447:exon11:c.A1094G:p.K365R;ENSG00000134278:ENST00000410092:exon11:c.A1454G:p.K485R;ENSG00000134278:ENST00000309836:exon10:c.A863G:p.K288R;	2.06969575161443E-5	0.0
18	12463492	T	G	18	12463493	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon11:c.A1094C:p.K365T;SPIRE1:NM_020148:exon11:c.A1454C:p.K485T;SPIRE1:NM_001128626:exon12:c.A1496C:p.K499T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon12:c.A1496C:p.K499T;ENSG00000134278:ENST00000440472:exon12:c.A977C:p.K326T;ENSG00000134278:ENST00000383356:exon11:c.A977C:p.K326T;ENSG00000134278:ENST00000453447:exon11:c.A1094C:p.K365T;ENSG00000134278:ENST00000410092:exon11:c.A1454C:p.K485T;ENSG00000134278:ENST00000309836:exon10:c.A863C:p.K288T;	9.28542374960452E-4	0.02
18	12463493	C	A	18	12463494	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1094-1G>T;NM_001128626:exon13:c.1496-1G>T;NM_020148:exon12:c.1454-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1496-1G>T;ENST00000410092:exon12:c.1454-1G>T;ENST00000309836:exon11:c.863-1G>T;ENST00000440472:exon13:c.977-1G>T;ENST00000453447:exon12:c.1094-1G>T;ENST00000383356:exon12:c.977-1G>T)	.	.	0.999987670894945	0.94
18	12463493	C	G	18	12463494	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1094-1G>C;NM_001128626:exon13:c.1496-1G>C;NM_020148:exon12:c.1454-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1496-1G>C;ENST00000410092:exon12:c.1454-1G>C;ENST00000309836:exon11:c.863-1G>C;ENST00000440472:exon13:c.977-1G>C;ENST00000453447:exon12:c.1094-1G>C;ENST00000383356:exon12:c.977-1G>C)	.	.	0.999987670894945	0.938
18	12463493	C	T	18	12463494	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1094-1G>A;NM_001128626:exon13:c.1496-1G>A;NM_020148:exon12:c.1454-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1496-1G>A;ENST00000410092:exon12:c.1454-1G>A;ENST00000309836:exon11:c.863-1G>A;ENST00000440472:exon13:c.977-1G>A;ENST00000453447:exon12:c.1094-1G>A;ENST00000383356:exon12:c.977-1G>A)	.	.	0.999987670894945	0.94
18	12463494	T	A	18	12463495	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1094-2A>T;NM_001128626:exon13:c.1496-2A>T;NM_020148:exon12:c.1454-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1496-2A>T;ENST00000410092:exon12:c.1454-2A>T;ENST00000309836:exon11:c.863-2A>T;ENST00000440472:exon13:c.977-2A>T;ENST00000453447:exon12:c.1094-2A>T;ENST00000383356:exon12:c.977-2A>T)	.	.	0.999986741007567	0.932
18	12463494	T	C	18	12463495	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1094-2A>G;NM_001128626:exon13:c.1496-2A>G;NM_020148:exon12:c.1454-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1496-2A>G;ENST00000410092:exon12:c.1454-2A>G;ENST00000309836:exon11:c.863-2A>G;ENST00000440472:exon13:c.977-2A>G;ENST00000453447:exon12:c.1094-2A>G;ENST00000383356:exon12:c.977-2A>G)	.	.	0.999986741007567	0.94
18	12463494	T	G	18	12463495	y	y	splicing	SPIRE1(NM_001128627:exon12:c.1094-2A>C;NM_001128626:exon13:c.1496-2A>C;NM_020148:exon12:c.1454-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon13:c.1496-2A>C;ENST00000410092:exon12:c.1454-2A>C;ENST00000309836:exon11:c.863-2A>C;ENST00000440472:exon13:c.977-2A>C;ENST00000453447:exon12:c.1094-2A>C;ENST00000383356:exon12:c.977-2A>C)	.	.	0.999986741007567	0.94
18	12463495	A	C	18	12463496	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.993475510258803	0.614
18	12463495	A	G	18	12463496	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.37546428351824E-4	0.036
18	12463495	A	T	18	12463496	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.238687590171553	0.35
18	12463496	A	C	18	12463497	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00307259784284997	0.074
18	12463496	A	G	18	12463497	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.468455843515E-5	0.038
18	12463496	A	T	18	12463497	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.8692369074794E-5	0.002
18	12463497	A	C	18	12463498	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.804514654324916	0.528
18	12463497	A	G	18	12463498	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.40354706466093E-4	0.074
18	12463497	A	T	18	12463498	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.783036084278687	0.5
18	12463498	G	A	18	12463499	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.79138249247049E-5	0.002
18	12463498	G	C	18	12463499	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00252106410299694	0.392
18	12463498	G	T	18	12463499	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00157054993606978	0.3
18	12463499	A	C	18	12463500	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999907190850806	0.988
18	12463499	A	G	18	12463500	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.58093796291485E-4	0.12
18	12463499	A	T	18	12463500	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.126139629952225	0.34
18	12463500	T	A	18	12463501	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.79310027563945E-4	0.018
18	12463500	T	C	18	12463501	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998574736617039	0.944
18	12463500	T	G	18	12463501	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.07698191228459E-4	0.02
18	12463501	T	A	18	12463502	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.49423136177275E-4	0.032
18	12463501	T	C	18	12463502	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.11375627213128E-4	0.01
18	12463501	T	G	18	12463502	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.33401946274583E-4	0.022
18	12463502	G	A	18	12463503	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.73299686307754E-5	0.0
18	12463502	G	C	18	12463503	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00154316180953174	0.038
18	12463502	G	T	18	12463503	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00176927791600896	0.048
18	12463503	A	C	18	12463504	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999691771781016	0.956
18	12463503	A	G	18	12463504	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99246176005902	0.658
18	12463503	A	T	18	12463504	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999894149050436	0.966
18	12463504	A	C	18	12463505	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999074658679535	0.89
18	12463504	A	G	18	12463505	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.581684739007722	0.388
18	12463504	A	T	18	12463505	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999056179545312	0.898
18	12464859	C	A	18	12464860	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.19636365712918E-4	0.0
18	12464859	C	G	18	12464860	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.78958691012223E-5	0.0
18	12464859	C	T	18	12464860	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.9881615651603E-4	0.002
18	12464860	T	A	18	12464861	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.95111662569027E-4	0.05
18	12464860	T	C	18	12464861	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.03829941290565E-4	0.012
18	12464860	T	G	18	12464861	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.11228449172864E-5	0.0
18	12464861	A	C	18	12464862	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.983691525216562	0.778
18	12464861	A	G	18	12464862	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.975835639641225	0.848
18	12464861	A	T	18	12464862	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.994903704722485	0.714
18	12464862	C	A	18	12464863	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999970684197856	0.996
18	12464862	C	G	18	12464863	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999978968585669	0.988
18	12464862	C	T	18	12464863	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999978968585669	1.0
18	12464863	T	A	18	12464864	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999495938902616	0.878
18	12464863	T	C	18	12464864	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999139556026857	0.914
18	12464863	T	G	18	12464864	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.982919042963264	0.774
18	12464864	C	A	18	12464865	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.890548976014742	0.478
18	12464864	C	G	18	12464865	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.932623200301508	0.58
18	12464864	C	T	18	12464865	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.59099809633846E-5	0.0
18	12464865	A	C	18	12464866	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1093+2T>G;NM_001128626:exon12:c.1495+2T>G;NM_020148:exon11:c.1453+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1495+2T>G;ENST00000410092:exon11:c.1453+2T>G;ENST00000309836:exon10:c.862+2T>G;ENST00000440472:exon12:c.976+2T>G;ENST00000453447:exon11:c.1093+2T>G;ENST00000383356:exon11:c.976+2T>G)	.	.	0.99994568797423	0.926
18	12464865	A	G	18	12464866	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1093+2T>C;NM_001128626:exon12:c.1495+2T>C;NM_020148:exon11:c.1453+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1495+2T>C;ENST00000410092:exon11:c.1453+2T>C;ENST00000309836:exon10:c.862+2T>C;ENST00000440472:exon12:c.976+2T>C;ENST00000453447:exon11:c.1093+2T>C;ENST00000383356:exon11:c.976+2T>C)	.	.	0.999632494053302	0.858
18	12464865	A	T	18	12464866	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1093+2T>A;NM_001128626:exon12:c.1495+2T>A;NM_020148:exon11:c.1453+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1495+2T>A;ENST00000410092:exon11:c.1453+2T>A;ENST00000309836:exon10:c.862+2T>A;ENST00000440472:exon12:c.976+2T>A;ENST00000453447:exon11:c.1093+2T>A;ENST00000383356:exon11:c.976+2T>A)	.	.	0.999978952611685	0.926
18	12464866	C	A	18	12464867	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1093+1G>T;NM_001128626:exon12:c.1495+1G>T;NM_020148:exon11:c.1453+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1495+1G>T;ENST00000410092:exon11:c.1453+1G>T;ENST00000309836:exon10:c.862+1G>T;ENST00000440472:exon12:c.976+1G>T;ENST00000453447:exon11:c.1093+1G>T;ENST00000383356:exon11:c.976+1G>T)	.	.	0.999980428708689	0.936
18	12464866	C	G	18	12464867	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1093+1G>C;NM_001128626:exon12:c.1495+1G>C;NM_020148:exon11:c.1453+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1495+1G>C;ENST00000410092:exon11:c.1453+1G>C;ENST00000309836:exon10:c.862+1G>C;ENST00000440472:exon12:c.976+1G>C;ENST00000453447:exon11:c.1093+1G>C;ENST00000383356:exon11:c.976+1G>C)	.	.	0.999980428708689	0.93
18	12464866	C	T	18	12464867	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1093+1G>A;NM_001128626:exon12:c.1495+1G>A;NM_020148:exon11:c.1453+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1495+1G>A;ENST00000410092:exon11:c.1453+1G>A;ENST00000309836:exon10:c.862+1G>A;ENST00000440472:exon12:c.976+1G>A;ENST00000453447:exon11:c.1093+1G>A;ENST00000383356:exon11:c.976+1G>A)	.	.	0.999989072007339	0.936
18	12464867	T	A	18	12464868	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon10:c.A1093T:p.K365X;SPIRE1:NM_020148:exon10:c.A1453T:p.K485X;SPIRE1:NM_001128626:exon11:c.A1495T:p.K499X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon11:c.A1495T:p.K499X;ENSG00000134278:ENST00000440472:exon11:c.A976T:p.K326X;ENSG00000134278:ENST00000383356:exon10:c.A976T:p.K326X;ENSG00000134278:ENST00000453447:exon10:c.A1093T:p.K365X;ENSG00000134278:ENST00000410092:exon10:c.A1453T:p.K485X;ENSG00000134278:ENST00000309836:exon9:c.A862T:p.K288X;	0.0396149452343863	0.33
18	12464867	T	C	18	12464868	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.A1093G:p.K365E;SPIRE1:NM_020148:exon10:c.A1453G:p.K485E;SPIRE1:NM_001128626:exon11:c.A1495G:p.K499E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.A1495G:p.K499E;ENSG00000134278:ENST00000440472:exon11:c.A976G:p.K326E;ENSG00000134278:ENST00000383356:exon10:c.A976G:p.K326E;ENSG00000134278:ENST00000453447:exon10:c.A1093G:p.K365E;ENSG00000134278:ENST00000410092:exon10:c.A1453G:p.K485E;ENSG00000134278:ENST00000309836:exon9:c.A862G:p.K288E;	6.21489791430026E-4	0.174
18	12464867	T	G	18	12464868	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.A1093C:p.K365Q;SPIRE1:NM_020148:exon10:c.A1453C:p.K485Q;SPIRE1:NM_001128626:exon11:c.A1495C:p.K499Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.A1495C:p.K499Q;ENSG00000134278:ENST00000440472:exon11:c.A976C:p.K326Q;ENSG00000134278:ENST00000383356:exon10:c.A976C:p.K326Q;ENSG00000134278:ENST00000453447:exon10:c.A1093C:p.K365Q;ENSG00000134278:ENST00000410092:exon10:c.A1453C:p.K485Q;ENSG00000134278:ENST00000309836:exon9:c.A862C:p.K288Q;	1.76554285503888E-4	0.014
18	12464868	C	A	18	12464869	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.G1092T:p.K364N;SPIRE1:NM_020148:exon10:c.G1452T:p.K484N;SPIRE1:NM_001128626:exon11:c.G1494T:p.K498N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.G1494T:p.K498N;ENSG00000134278:ENST00000440472:exon11:c.G975T:p.K325N;ENSG00000134278:ENST00000383356:exon10:c.G975T:p.K325N;ENSG00000134278:ENST00000453447:exon10:c.G1092T:p.K364N;ENSG00000134278:ENST00000410092:exon10:c.G1452T:p.K484N;ENSG00000134278:ENST00000309836:exon9:c.G861T:p.K287N;	0.0266772712771206	0.212
18	12464868	C	G	18	12464869	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.G1092C:p.K364N;SPIRE1:NM_020148:exon10:c.G1452C:p.K484N;SPIRE1:NM_001128626:exon11:c.G1494C:p.K498N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.G1494C:p.K498N;ENSG00000134278:ENST00000440472:exon11:c.G975C:p.K325N;ENSG00000134278:ENST00000383356:exon10:c.G975C:p.K325N;ENSG00000134278:ENST00000453447:exon10:c.G1092C:p.K364N;ENSG00000134278:ENST00000410092:exon10:c.G1452C:p.K484N;ENSG00000134278:ENST00000309836:exon9:c.G861C:p.K287N;	0.0377534501306712	0.28
18	12464868	C	T	18	12464869	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon10:c.G1092A:p.K364K;SPIRE1:NM_020148:exon10:c.G1452A:p.K484K;SPIRE1:NM_001128626:exon11:c.G1494A:p.K498K;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.G1494A:p.K498K;ENSG00000134278:ENST00000440472:exon11:c.G975A:p.K325K;ENSG00000134278:ENST00000383356:exon10:c.G975A:p.K325K;ENSG00000134278:ENST00000453447:exon10:c.G1092A:p.K364K;ENSG00000134278:ENST00000410092:exon10:c.G1452A:p.K484K;ENSG00000134278:ENST00000309836:exon9:c.G861A:p.K287K;	0.00108933729077322	0.058
18	12464869	T	A	18	12464870	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.A1091T:p.K364M;SPIRE1:NM_020148:exon10:c.A1451T:p.K484M;SPIRE1:NM_001128626:exon11:c.A1493T:p.K498M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.A1493T:p.K498M;ENSG00000134278:ENST00000440472:exon11:c.A974T:p.K325M;ENSG00000134278:ENST00000383356:exon10:c.A974T:p.K325M;ENSG00000134278:ENST00000453447:exon10:c.A1091T:p.K364M;ENSG00000134278:ENST00000410092:exon10:c.A1451T:p.K484M;ENSG00000134278:ENST00000309836:exon9:c.A860T:p.K287M;	0.993065037857018	0.668
18	12464869	T	C	18	12464870	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.A1091G:p.K364R;SPIRE1:NM_020148:exon10:c.A1451G:p.K484R;SPIRE1:NM_001128626:exon11:c.A1493G:p.K498R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.A1493G:p.K498R;ENSG00000134278:ENST00000440472:exon11:c.A974G:p.K325R;ENSG00000134278:ENST00000383356:exon10:c.A974G:p.K325R;ENSG00000134278:ENST00000453447:exon10:c.A1091G:p.K364R;ENSG00000134278:ENST00000410092:exon10:c.A1451G:p.K484R;ENSG00000134278:ENST00000309836:exon9:c.A860G:p.K287R;	0.440475721596759	0.436
18	12464869	T	G	18	12464870	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.A1091C:p.K364T;SPIRE1:NM_020148:exon10:c.A1451C:p.K484T;SPIRE1:NM_001128626:exon11:c.A1493C:p.K498T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.A1493C:p.K498T;ENSG00000134278:ENST00000440472:exon11:c.A974C:p.K325T;ENSG00000134278:ENST00000383356:exon10:c.A974C:p.K325T;ENSG00000134278:ENST00000453447:exon10:c.A1091C:p.K364T;ENSG00000134278:ENST00000410092:exon10:c.A1451C:p.K484T;ENSG00000134278:ENST00000309836:exon9:c.A860C:p.K287T;	0.265510840924922	0.37
18	12464956	T	A	18	12464957	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.A1004T:p.E335V;SPIRE1:NM_020148:exon10:c.A1364T:p.E455V;SPIRE1:NM_001128626:exon11:c.A1406T:p.E469V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.A1406T:p.E469V;ENSG00000134278:ENST00000440472:exon11:c.A887T:p.E296V;ENSG00000134278:ENST00000383356:exon10:c.A887T:p.E296V;ENSG00000134278:ENST00000453447:exon10:c.A1004T:p.E335V;ENSG00000134278:ENST00000410092:exon10:c.A1364T:p.E455V;ENSG00000134278:ENST00000309836:exon9:c.A773T:p.E258V;	9.23431015211614E-4	0.0
18	12464956	T	C	18	12464957	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.A1004G:p.E335G;SPIRE1:NM_020148:exon10:c.A1364G:p.E455G;SPIRE1:NM_001128626:exon11:c.A1406G:p.E469G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.A1406G:p.E469G;ENSG00000134278:ENST00000440472:exon11:c.A887G:p.E296G;ENSG00000134278:ENST00000383356:exon10:c.A887G:p.E296G;ENSG00000134278:ENST00000453447:exon10:c.A1004G:p.E335G;ENSG00000134278:ENST00000410092:exon10:c.A1364G:p.E455G;ENSG00000134278:ENST00000309836:exon9:c.A773G:p.E258G;	0.00118380664379759	0.014
18	12464956	T	G	18	12464957	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.A1004C:p.E335A;SPIRE1:NM_020148:exon10:c.A1364C:p.E455A;SPIRE1:NM_001128626:exon11:c.A1406C:p.E469A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.A1406C:p.E469A;ENSG00000134278:ENST00000440472:exon11:c.A887C:p.E296A;ENSG00000134278:ENST00000383356:exon10:c.A887C:p.E296A;ENSG00000134278:ENST00000453447:exon10:c.A1004C:p.E335A;ENSG00000134278:ENST00000410092:exon10:c.A1364C:p.E455A;ENSG00000134278:ENST00000309836:exon9:c.A773C:p.E258A;	0.00460416857546586	0.06
18	12464957	C	A	18	12464958	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon10:c.G1003T:p.E335X;SPIRE1:NM_020148:exon10:c.G1363T:p.E455X;SPIRE1:NM_001128626:exon11:c.G1405T:p.E469X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon11:c.G1405T:p.E469X;ENSG00000134278:ENST00000440472:exon11:c.G886T:p.E296X;ENSG00000134278:ENST00000383356:exon10:c.G886T:p.E296X;ENSG00000134278:ENST00000453447:exon10:c.G1003T:p.E335X;ENSG00000134278:ENST00000410092:exon10:c.G1363T:p.E455X;ENSG00000134278:ENST00000309836:exon9:c.G772T:p.E258X;	0.999923265457411	0.984
18	12464957	C	G	18	12464958	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.G1003C:p.E335Q;SPIRE1:NM_020148:exon10:c.G1363C:p.E455Q;SPIRE1:NM_001128626:exon11:c.G1405C:p.E469Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.G1405C:p.E469Q;ENSG00000134278:ENST00000440472:exon11:c.G886C:p.E296Q;ENSG00000134278:ENST00000383356:exon10:c.G886C:p.E296Q;ENSG00000134278:ENST00000453447:exon10:c.G1003C:p.E335Q;ENSG00000134278:ENST00000410092:exon10:c.G1363C:p.E455Q;ENSG00000134278:ENST00000309836:exon9:c.G772C:p.E258Q;	0.999281608913419	0.954
18	12464957	C	T	18	12464958	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon10:c.G1003A:p.E335K;SPIRE1:NM_020148:exon10:c.G1363A:p.E455K;SPIRE1:NM_001128626:exon11:c.G1405A:p.E469K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon11:c.G1405A:p.E469K;ENSG00000134278:ENST00000440472:exon11:c.G886A:p.E296K;ENSG00000134278:ENST00000383356:exon10:c.G886A:p.E296K;ENSG00000134278:ENST00000453447:exon10:c.G1003A:p.E335K;ENSG00000134278:ENST00000410092:exon10:c.G1363A:p.E455K;ENSG00000134278:ENST00000309836:exon9:c.G772A:p.E258K;	0.998970419733215	0.96
18	12464958	C	A	18	12464959	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1003-1G>T;NM_001128626:exon12:c.1405-1G>T;NM_020148:exon11:c.1363-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1405-1G>T;ENST00000410092:exon11:c.1363-1G>T;ENST00000309836:exon10:c.772-1G>T;ENST00000440472:exon12:c.886-1G>T;ENST00000453447:exon11:c.1003-1G>T;ENST00000383356:exon11:c.886-1G>T)	.	.	0.999938422912956	0.922
18	12464958	C	G	18	12464959	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1003-1G>C;NM_001128626:exon12:c.1405-1G>C;NM_020148:exon11:c.1363-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1405-1G>C;ENST00000410092:exon11:c.1363-1G>C;ENST00000309836:exon10:c.772-1G>C;ENST00000440472:exon12:c.886-1G>C;ENST00000453447:exon11:c.1003-1G>C;ENST00000383356:exon11:c.886-1G>C)	.	.	0.999938422912956	0.93
18	12464958	C	T	18	12464959	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1003-1G>A;NM_001128626:exon12:c.1405-1G>A;NM_020148:exon11:c.1363-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1405-1G>A;ENST00000410092:exon11:c.1363-1G>A;ENST00000309836:exon10:c.772-1G>A;ENST00000440472:exon12:c.886-1G>A;ENST00000453447:exon11:c.1003-1G>A;ENST00000383356:exon11:c.886-1G>A)	.	.	0.999938422912956	0.928
18	12464959	T	A	18	12464960	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1003-2A>T;NM_001128626:exon12:c.1405-2A>T;NM_020148:exon11:c.1363-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1405-2A>T;ENST00000410092:exon11:c.1363-2A>T;ENST00000309836:exon10:c.772-2A>T;ENST00000440472:exon12:c.886-2A>T;ENST00000453447:exon11:c.1003-2A>T;ENST00000383356:exon11:c.886-2A>T)	.	.	0.999946188727699	0.934
18	12464959	T	C	18	12464960	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1003-2A>G;NM_001128626:exon12:c.1405-2A>G;NM_020148:exon11:c.1363-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1405-2A>G;ENST00000410092:exon11:c.1363-2A>G;ENST00000309836:exon10:c.772-2A>G;ENST00000440472:exon12:c.886-2A>G;ENST00000453447:exon11:c.1003-2A>G;ENST00000383356:exon11:c.886-2A>G)	.	.	0.999946188727699	0.942
18	12464959	T	G	18	12464960	y	y	splicing	SPIRE1(NM_001128627:exon11:c.1003-2A>C;NM_001128626:exon12:c.1405-2A>C;NM_020148:exon11:c.1363-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon12:c.1405-2A>C;ENST00000410092:exon11:c.1363-2A>C;ENST00000309836:exon10:c.772-2A>C;ENST00000440472:exon12:c.886-2A>C;ENST00000453447:exon11:c.1003-2A>C;ENST00000383356:exon11:c.886-2A>C)	.	.	0.999946188727699	0.942
18	12464960	G	A	18	12464961	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00354733428372021	0.114
18	12464960	G	C	18	12464961	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.9991901035998	0.896
18	12464960	G	T	18	12464961	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.972294954332706	0.846
18	12464961	A	C	18	12464962	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.03798137056132E-4	0.002
18	12464961	A	G	18	12464962	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.0440210995221E-5	0.002
18	12464961	A	T	18	12464962	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.00265453927234E-5	0.0
18	12464962	G	A	18	12464963	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.54774386706846E-5	0.016
18	12464962	G	C	18	12464963	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0176685731608677	0.096
18	12464962	G	T	18	12464963	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0020251919125797	0.058
18	12464963	C	A	18	12464964	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.40347652697844E-5	0.004
18	12464963	C	G	18	12464964	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.40347652697844E-5	0.034
18	12464963	C	T	18	12464964	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.4098362637528E-5	0.002
18	12464964	A	C	18	12464965	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0287371714005086	0.092
18	12464964	A	G	18	12464965	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.74269757292945E-5	0.0
18	12464964	A	T	18	12464965	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999722926458489	0.984
18	12464965	A	C	18	12464966	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00414347477346785	0.098
18	12464965	A	G	18	12464966	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.49233523929162E-5	0.002
18	12464965	A	T	18	12464966	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0148681721784964	0.096
18	12464966	A	C	18	12464967	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00649566921591334	0.088
18	12464966	A	G	18	12464967	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.30702243386848E-5	0.004
18	12464966	A	T	18	12464967	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00555497077787592	0.082
18	12464967	G	A	18	12464968	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.09715696241945E-5	0.0
18	12464967	G	C	18	12464968	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.967266678830751	0.868
18	12464967	G	T	18	12464968	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.25366276837698E-4	0.014
18	12464968	T	A	18	12464969	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.69597282619581E-5	0.022
18	12464968	T	C	18	12464969	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.80190019730557E-6	0.002
18	12464968	T	G	18	12464969	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.53980235418604E-5	0.0
18	12464969	A	C	18	12464970	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.257765687253352	0.416
18	12464969	A	G	18	12464970	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.31056346152778E-4	0.0
18	12464969	A	T	18	12464970	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.747333614817023	0.466
18	12479690	G	A	18	12479691	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.61699462704436E-5	0.0
18	12479690	G	C	18	12479691	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.12754111043201E-5	0.002
18	12479690	G	T	18	12479691	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.67382292734411E-5	0.0
18	12479691	G	A	18	12479692	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.15811418628618E-4	0.002
18	12479691	G	C	18	12479692	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.75259212950326E-5	0.002
18	12479691	G	T	18	12479692	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.68961399967224E-5	0.0
18	12479692	C	A	18	12479693	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.35341871340432E-5	0.002
18	12479692	C	G	18	12479693	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.12042866567301E-5	0.004
18	12479692	C	T	18	12479693	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.58821228138952E-4	0.008
18	12479693	C	A	18	12479694	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99964694735206	0.716
18	12479693	C	G	18	12479694	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.992326222210134	0.546
18	12479693	C	T	18	12479694	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999163430647087	0.72
18	12479694	T	A	18	12479695	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.987266524414269	0.648
18	12479694	T	C	18	12479695	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99292511243236	0.738
18	12479694	T	G	18	12479695	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0802646498995138	0.348
18	12479695	C	A	18	12479696	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0519789225252647	0.31
18	12479695	C	G	18	12479696	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0928813296226647	0.314
18	12479695	C	T	18	12479696	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.65096955710674E-5	0.0
18	12479696	A	C	18	12479697	y	y	splicing	SPIRE1(NM_001128627:exon10:c.1002+2T>G;NM_001128626:exon11:c.1404+2T>G;NM_020148:exon10:c.1362+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1404+2T>G;ENST00000410092:exon10:c.1362+2T>G;ENST00000309836:exon9:c.771+2T>G;ENST00000440472:exon11:c.885+2T>G;ENST00000453447:exon10:c.1002+2T>G;ENST00000383356:exon10:c.885+2T>G)	.	.	0.999946188727699	0.944
18	12479696	A	G	18	12479697	y	y	splicing	SPIRE1(NM_001128627:exon10:c.1002+2T>C;NM_001128626:exon11:c.1404+2T>C;NM_020148:exon10:c.1362+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1404+2T>C;ENST00000410092:exon10:c.1362+2T>C;ENST00000309836:exon9:c.771+2T>C;ENST00000440472:exon11:c.885+2T>C;ENST00000453447:exon10:c.1002+2T>C;ENST00000383356:exon10:c.885+2T>C)	.	.	0.999691296192029	0.914
18	12479696	A	T	18	12479697	y	y	splicing	SPIRE1(NM_001128627:exon10:c.1002+2T>A;NM_001128626:exon11:c.1404+2T>A;NM_020148:exon10:c.1362+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1404+2T>A;ENST00000410092:exon10:c.1362+2T>A;ENST00000309836:exon9:c.771+2T>A;ENST00000440472:exon11:c.885+2T>A;ENST00000453447:exon10:c.1002+2T>A;ENST00000383356:exon10:c.885+2T>A)	.	.	0.99994568797423	0.944
18	12479697	C	A	18	12479698	y	y	splicing	SPIRE1(NM_001128627:exon10:c.1002+1G>T;NM_001128626:exon11:c.1404+1G>T;NM_020148:exon10:c.1362+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1404+1G>T;ENST00000410092:exon10:c.1362+1G>T;ENST00000309836:exon9:c.771+1G>T;ENST00000440472:exon11:c.885+1G>T;ENST00000453447:exon10:c.1002+1G>T;ENST00000383356:exon10:c.885+1G>T)	.	.	0.999915710762489	0.954
18	12479697	C	G	18	12479698	y	y	splicing	SPIRE1(NM_001128627:exon10:c.1002+1G>C;NM_001128626:exon11:c.1404+1G>C;NM_020148:exon10:c.1362+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1404+1G>C;ENST00000410092:exon10:c.1362+1G>C;ENST00000309836:exon9:c.771+1G>C;ENST00000440472:exon11:c.885+1G>C;ENST00000453447:exon10:c.1002+1G>C;ENST00000383356:exon10:c.885+1G>C)	.	.	0.999915710762489	0.958
18	12479697	C	T	18	12479698	y	y	splicing	SPIRE1(NM_001128627:exon10:c.1002+1G>A;NM_001128626:exon11:c.1404+1G>A;NM_020148:exon10:c.1362+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1404+1G>A;ENST00000410092:exon10:c.1362+1G>A;ENST00000309836:exon9:c.771+1G>A;ENST00000440472:exon11:c.885+1G>A;ENST00000453447:exon10:c.1002+1G>A;ENST00000383356:exon10:c.885+1G>A)	.	.	0.999915710762489	0.954
18	12479698	C	A	18	12479699	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.G1002T:p.E334D;SPIRE1:NM_020148:exon9:c.G1362T:p.E454D;SPIRE1:NM_001128626:exon10:c.G1404T:p.E468D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.G1404T:p.E468D;ENSG00000134278:ENST00000440472:exon10:c.G885T:p.E295D;ENSG00000134278:ENST00000383356:exon9:c.G885T:p.E295D;ENSG00000134278:ENST00000453447:exon9:c.G1002T:p.E334D;ENSG00000134278:ENST00000410092:exon9:c.G1362T:p.E454D;ENSG00000134278:ENST00000309836:exon8:c.G771T:p.E257D;	0.987709269812601	0.872
18	12479698	C	G	18	12479699	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.G1002C:p.E334D;SPIRE1:NM_020148:exon9:c.G1362C:p.E454D;SPIRE1:NM_001128626:exon10:c.G1404C:p.E468D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.G1404C:p.E468D;ENSG00000134278:ENST00000440472:exon10:c.G885C:p.E295D;ENSG00000134278:ENST00000383356:exon9:c.G885C:p.E295D;ENSG00000134278:ENST00000453447:exon9:c.G1002C:p.E334D;ENSG00000134278:ENST00000410092:exon9:c.G1362C:p.E454D;ENSG00000134278:ENST00000309836:exon8:c.G771C:p.E257D;	0.999989495820616	0.956
18	12479698	C	T	18	12479699	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon9:c.G1002A:p.E334E;SPIRE1:NM_020148:exon9:c.G1362A:p.E454E;SPIRE1:NM_001128626:exon10:c.G1404A:p.E468E;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.G1404A:p.E468E;ENSG00000134278:ENST00000440472:exon10:c.G885A:p.E295E;ENSG00000134278:ENST00000383356:exon9:c.G885A:p.E295E;ENSG00000134278:ENST00000453447:exon9:c.G1002A:p.E334E;ENSG00000134278:ENST00000410092:exon9:c.G1362A:p.E454E;ENSG00000134278:ENST00000309836:exon8:c.G771A:p.E257E;	0.992811795716204	0.948
18	12479699	T	A	18	12479700	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.A1001T:p.E334V;SPIRE1:NM_020148:exon9:c.A1361T:p.E454V;SPIRE1:NM_001128626:exon10:c.A1403T:p.E468V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.A1403T:p.E468V;ENSG00000134278:ENST00000440472:exon10:c.A884T:p.E295V;ENSG00000134278:ENST00000383356:exon9:c.A884T:p.E295V;ENSG00000134278:ENST00000453447:exon9:c.A1001T:p.E334V;ENSG00000134278:ENST00000410092:exon9:c.A1361T:p.E454V;ENSG00000134278:ENST00000309836:exon8:c.A770T:p.E257V;	0.995223111628111	0.94
18	12479699	T	C	18	12479700	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.A1001G:p.E334G;SPIRE1:NM_020148:exon9:c.A1361G:p.E454G;SPIRE1:NM_001128626:exon10:c.A1403G:p.E468G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.A1403G:p.E468G;ENSG00000134278:ENST00000440472:exon10:c.A884G:p.E295G;ENSG00000134278:ENST00000383356:exon9:c.A884G:p.E295G;ENSG00000134278:ENST00000453447:exon9:c.A1001G:p.E334G;ENSG00000134278:ENST00000410092:exon9:c.A1361G:p.E454G;ENSG00000134278:ENST00000309836:exon8:c.A770G:p.E257G;	0.999943832301473	0.996
18	12479699	T	G	18	12479700	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.A1001C:p.E334A;SPIRE1:NM_020148:exon9:c.A1361C:p.E454A;SPIRE1:NM_001128626:exon10:c.A1403C:p.E468A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.A1403C:p.E468A;ENSG00000134278:ENST00000440472:exon10:c.A884C:p.E295A;ENSG00000134278:ENST00000383356:exon9:c.A884C:p.E295A;ENSG00000134278:ENST00000453447:exon9:c.A1001C:p.E334A;ENSG00000134278:ENST00000410092:exon9:c.A1361C:p.E454A;ENSG00000134278:ENST00000309836:exon8:c.A770C:p.E257A;	0.999334039773878	0.976
18	12479700	C	A	18	12479701	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon9:c.G1000T:p.E334X;SPIRE1:NM_020148:exon9:c.G1360T:p.E454X;SPIRE1:NM_001128626:exon10:c.G1402T:p.E468X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon10:c.G1402T:p.E468X;ENSG00000134278:ENST00000440472:exon10:c.G883T:p.E295X;ENSG00000134278:ENST00000383356:exon9:c.G883T:p.E295X;ENSG00000134278:ENST00000453447:exon9:c.G1000T:p.E334X;ENSG00000134278:ENST00000410092:exon9:c.G1360T:p.E454X;ENSG00000134278:ENST00000309836:exon8:c.G769T:p.E257X;	0.97107196468026	0.888
18	12479700	C	G	18	12479701	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.G1000C:p.E334Q;SPIRE1:NM_020148:exon9:c.G1360C:p.E454Q;SPIRE1:NM_001128626:exon10:c.G1402C:p.E468Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.G1402C:p.E468Q;ENSG00000134278:ENST00000440472:exon10:c.G883C:p.E295Q;ENSG00000134278:ENST00000383356:exon9:c.G883C:p.E295Q;ENSG00000134278:ENST00000453447:exon9:c.G1000C:p.E334Q;ENSG00000134278:ENST00000410092:exon9:c.G1360C:p.E454Q;ENSG00000134278:ENST00000309836:exon8:c.G769C:p.E257Q;	0.924105483807326	0.748
18	12479700	C	T	18	12479701	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.G1000A:p.E334K;SPIRE1:NM_020148:exon9:c.G1360A:p.E454K;SPIRE1:NM_001128626:exon10:c.G1402A:p.E468K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.G1402A:p.E468K;ENSG00000134278:ENST00000440472:exon10:c.G883A:p.E295K;ENSG00000134278:ENST00000383356:exon9:c.G883A:p.E295K;ENSG00000134278:ENST00000453447:exon9:c.G1000A:p.E334K;ENSG00000134278:ENST00000410092:exon9:c.G1360A:p.E454K;ENSG00000134278:ENST00000309836:exon8:c.G769A:p.E257K;	0.89422783982604	0.814
18	12479869	A	C	18	12479870	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.T831G:p.D277E;SPIRE1:NM_020148:exon9:c.T1191G:p.D397E;SPIRE1:NM_001128626:exon10:c.T1233G:p.D411E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.T1233G:p.D411E;ENSG00000134278:ENST00000440472:exon10:c.T714G:p.D238E;ENSG00000134278:ENST00000383356:exon9:c.T714G:p.D238E;ENSG00000134278:ENST00000453447:exon9:c.T831G:p.D277E;ENSG00000134278:ENST00000410092:exon9:c.T1191G:p.D397E;ENSG00000134278:ENST00000309836:exon8:c.T600G:p.D200E;	3.5324762117237E-4	0.012
18	12479869	A	G	18	12479870	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon9:c.T831C:p.D277D;SPIRE1:NM_020148:exon9:c.T1191C:p.D397D;SPIRE1:NM_001128626:exon10:c.T1233C:p.D411D;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.T1233C:p.D411D;ENSG00000134278:ENST00000440472:exon10:c.T714C:p.D238D;ENSG00000134278:ENST00000383356:exon9:c.T714C:p.D238D;ENSG00000134278:ENST00000453447:exon9:c.T831C:p.D277D;ENSG00000134278:ENST00000410092:exon9:c.T1191C:p.D397D;ENSG00000134278:ENST00000309836:exon8:c.T600C:p.D200D;	2.88258944185687E-4	0.062
18	12479869	A	T	18	12479870	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.T831A:p.D277E;SPIRE1:NM_020148:exon9:c.T1191A:p.D397E;SPIRE1:NM_001128626:exon10:c.T1233A:p.D411E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.T1233A:p.D411E;ENSG00000134278:ENST00000440472:exon10:c.T714A:p.D238E;ENSG00000134278:ENST00000383356:exon9:c.T714A:p.D238E;ENSG00000134278:ENST00000453447:exon9:c.T831A:p.D277E;ENSG00000134278:ENST00000410092:exon9:c.T1191A:p.D397E;ENSG00000134278:ENST00000309836:exon8:c.T600A:p.D200E;	5.52709429955947E-4	0.016
18	12479870	T	A	18	12479871	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.A830T:p.D277V;SPIRE1:NM_020148:exon9:c.A1190T:p.D397V;SPIRE1:NM_001128626:exon10:c.A1232T:p.D411V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.A1232T:p.D411V;ENSG00000134278:ENST00000440472:exon10:c.A713T:p.D238V;ENSG00000134278:ENST00000383356:exon9:c.A713T:p.D238V;ENSG00000134278:ENST00000453447:exon9:c.A830T:p.D277V;ENSG00000134278:ENST00000410092:exon9:c.A1190T:p.D397V;ENSG00000134278:ENST00000309836:exon8:c.A599T:p.D200V;	0.0464966740648241	0.274
18	12479870	T	C	18	12479871	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.A830G:p.D277G;SPIRE1:NM_020148:exon9:c.A1190G:p.D397G;SPIRE1:NM_001128626:exon10:c.A1232G:p.D411G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.A1232G:p.D411G;ENSG00000134278:ENST00000440472:exon10:c.A713G:p.D238G;ENSG00000134278:ENST00000383356:exon9:c.A713G:p.D238G;ENSG00000134278:ENST00000453447:exon9:c.A830G:p.D277G;ENSG00000134278:ENST00000410092:exon9:c.A1190G:p.D397G;ENSG00000134278:ENST00000309836:exon8:c.A599G:p.D200G;	9.9934467119437E-4	0.016
18	12479870	T	G	18	12479871	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon9:c.A830C:p.D277A;SPIRE1:NM_020148:exon9:c.A1190C:p.D397A;SPIRE1:NM_001128626:exon10:c.A1232C:p.D411A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon10:c.A1232C:p.D411A;ENSG00000134278:ENST00000440472:exon10:c.A713C:p.D238A;ENSG00000134278:ENST00000383356:exon9:c.A713C:p.D238A;ENSG00000134278:ENST00000453447:exon9:c.A830C:p.D277A;ENSG00000134278:ENST00000410092:exon9:c.A1190C:p.D397A;ENSG00000134278:ENST00000309836:exon8:c.A599C:p.D200A;	0.00418031139713777	0.132
18	12479871	C	A	18	12479872	y	y	splicing	SPIRE1(NM_001128627:exon10:c.830-1G>T;NM_001128626:exon11:c.1232-1G>T;NM_020148:exon10:c.1190-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1232-1G>T;ENST00000410092:exon10:c.1190-1G>T;ENST00000309836:exon9:c.599-1G>T;ENST00000440472:exon11:c.713-1G>T;ENST00000453447:exon10:c.830-1G>T;ENST00000383356:exon10:c.713-1G>T)	.	.	0.999985532734767	0.936
18	12479871	C	G	18	12479872	y	y	splicing	SPIRE1(NM_001128627:exon10:c.830-1G>C;NM_001128626:exon11:c.1232-1G>C;NM_020148:exon10:c.1190-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1232-1G>C;ENST00000410092:exon10:c.1190-1G>C;ENST00000309836:exon9:c.599-1G>C;ENST00000440472:exon11:c.713-1G>C;ENST00000453447:exon10:c.830-1G>C;ENST00000383356:exon10:c.713-1G>C)	.	.	0.999985532734767	0.934
18	12479871	C	T	18	12479872	y	y	splicing	SPIRE1(NM_001128627:exon10:c.830-1G>A;NM_001128626:exon11:c.1232-1G>A;NM_020148:exon10:c.1190-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1232-1G>A;ENST00000410092:exon10:c.1190-1G>A;ENST00000309836:exon9:c.599-1G>A;ENST00000440472:exon11:c.713-1G>A;ENST00000453447:exon10:c.830-1G>A;ENST00000383356:exon10:c.713-1G>A)	.	.	0.999985532734767	0.936
18	12479872	T	A	18	12479873	y	y	splicing	SPIRE1(NM_001128627:exon10:c.830-2A>T;NM_001128626:exon11:c.1232-2A>T;NM_020148:exon10:c.1190-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1232-2A>T;ENST00000410092:exon10:c.1190-2A>T;ENST00000309836:exon9:c.599-2A>T;ENST00000440472:exon11:c.713-2A>T;ENST00000453447:exon10:c.830-2A>T;ENST00000383356:exon10:c.713-2A>T)	.	.	0.999988247793601	0.926
18	12479872	T	C	18	12479873	y	y	splicing	SPIRE1(NM_001128627:exon10:c.830-2A>G;NM_001128626:exon11:c.1232-2A>G;NM_020148:exon10:c.1190-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1232-2A>G;ENST00000410092:exon10:c.1190-2A>G;ENST00000309836:exon9:c.599-2A>G;ENST00000440472:exon11:c.713-2A>G;ENST00000453447:exon10:c.830-2A>G;ENST00000383356:exon10:c.713-2A>G)	.	.	0.999988247793601	0.926
18	12479872	T	G	18	12479873	y	y	splicing	SPIRE1(NM_001128627:exon10:c.830-2A>C;NM_001128626:exon11:c.1232-2A>C;NM_020148:exon10:c.1190-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon11:c.1232-2A>C;ENST00000410092:exon10:c.1190-2A>C;ENST00000309836:exon9:c.599-2A>C;ENST00000440472:exon11:c.713-2A>C;ENST00000453447:exon10:c.830-2A>C;ENST00000383356:exon10:c.713-2A>C)	.	.	0.999988247793601	0.926
18	12479873	G	A	18	12479874	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00179690759998945	0.08
18	12479873	G	C	18	12479874	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99949606346396	0.928
18	12479873	G	T	18	12479874	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.960068860474725	0.57
18	12479874	G	A	18	12479875	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00115768779380057	0.008
18	12479874	G	C	18	12479875	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.835495922776303	0.51
18	12479874	G	T	18	12479875	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.97640357496031E-4	0.02
18	12479875	T	A	18	12479876	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.76242027107554E-5	0.0
18	12479875	T	C	18	12479876	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.05085112685209E-5	0.002
18	12479875	T	G	18	12479876	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.71445688732865E-6	0.002
18	12479876	A	C	18	12479877	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0123663288523403	0.17
18	12479876	A	G	18	12479877	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.59907614163745E-5	0.0
18	12479876	A	T	18	12479877	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0045209102460132	0.072
18	12479877	A	C	18	12479878	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.111149487749932	0.334
18	12479877	A	G	18	12479878	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.79636174149994E-4	0.002
18	12479877	A	T	18	12479878	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.311682023267485	0.468
18	12479878	A	C	18	12479879	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0757709405871347	0.32
18	12479878	A	G	18	12479879	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.47920571348982E-4	0.02
18	12479878	A	T	18	12479879	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.565782548962127	0.386
18	12479879	A	C	18	12479880	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.308885395762046	0.54
18	12479879	A	G	18	12479880	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.78064768594568E-4	0.006
18	12479879	A	T	18	12479880	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.486032105588723	0.566
18	12479880	A	C	18	12479881	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.109556641809974	0.494
18	12479880	A	G	18	12479881	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.28168117161241E-4	0.006
18	12479880	A	T	18	12479881	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.138072216059307	0.498
18	12479881	A	C	18	12479882	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0191847260056576	0.366
18	12479881	A	G	18	12479882	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00101177353936545	0.048
18	12479881	A	T	18	12479882	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0812223215056831	0.352
18	12479882	G	A	18	12479883	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.94796864096851E-5	0.0
18	12479882	G	C	18	12479883	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.21212552990711E-4	0.01
18	12479882	G	T	18	12479883	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.97685116426819E-4	0.014
18	12485950	T	A	18	12485951	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.01169111720026E-4	0.002
18	12485950	T	C	18	12485951	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.46226529156369E-4	0.02
18	12485950	T	G	18	12485951	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.01169111720026E-4	0.012
18	12485951	T	A	18	12485952	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.77275759119167E-4	0.034
18	12485951	T	C	18	12485952	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.65036157344951E-4	0.002
18	12485951	T	G	18	12485952	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.2609726694734E-4	0.0
18	12485952	T	A	18	12485953	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0031027471708371	0.048
18	12485952	T	C	18	12485953	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00804233819023058	0.086
18	12485952	T	G	18	12485953	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.119729299103574	0.228
18	12485953	T	A	18	12485954	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00911976003321135	0.082
18	12485953	T	C	18	12485954	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.07502451682444E-4	0.024
18	12485953	T	G	18	12485954	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.37709777304387E-4	0.048
18	12485954	T	A	18	12485955	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997927645521926	0.9
18	12485954	T	C	18	12485955	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99791340304369	0.92
18	12485954	T	G	18	12485955	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998722385500494	0.936
18	12485955	T	A	18	12485956	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999909409925236	0.912
18	12485955	T	C	18	12485956	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999186634202052	0.92
18	12485955	T	G	18	12485956	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999909409925236	0.906
18	12485956	A	C	18	12485957	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1231+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1231+2T>G)	.	.	0.999988247793601	0.932
18	12485956	A	G	18	12485957	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1231+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1231+2T>C)	.	.	0.995944345829671	0.72
18	12485956	A	T	18	12485957	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1231+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1231+2T>A)	.	.	0.999988247793601	0.932
18	12485957	C	A	18	12485958	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1231+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1231+1G>T)	.	.	0.999990361384395	0.938
18	12485957	C	G	18	12485958	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1231+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1231+1G>C)	.	.	0.999990361384395	0.938
18	12485957	C	T	18	12485958	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1231+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1231+1G>A)	.	.	0.999990361384395	0.938
18	12485958	C	A	18	12485959	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128626:exon9:c.G1231T:p.D411Y;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.G1231T:p.D411Y;	0.999990139456338	0.996
18	12485958	C	G	18	12485959	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128626:exon9:c.G1231C:p.D411H;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.G1231C:p.D411H;	0.999997610789446	1.0
18	12485958	C	T	18	12485959	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128626:exon9:c.G1231A:p.D411N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.G1231A:p.D411N;	0.999993561277163	1.0
18	12485959	T	A	18	12485960	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128626:exon9:c.A1230T:p.S410S;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.A1230T:p.S410S;	0.999838442941031	0.994
18	12485959	T	C	18	12485960	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128626:exon9:c.A1230G:p.S410S;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.A1230G:p.S410S;	0.999213602695918	0.978
18	12485959	T	G	18	12485960	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128626:exon9:c.A1230C:p.S410S;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.A1230C:p.S410S;	0.999141008596118	0.95
18	12485960	G	A	18	12485961	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128626:exon9:c.C1229T:p.S410L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.C1229T:p.S410L;	0.999409201813941	0.942
18	12485960	G	C	18	12485961	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128626:exon9:c.C1229G:p.S410X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon9:c.C1229G:p.S410X;	0.968862013943227	0.708
18	12485960	G	T	18	12485961	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128626:exon9:c.C1229A:p.S410X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon9:c.C1229A:p.S410X;	0.940414222669096	0.846
18	12485998	T	A	18	12485999	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128626:exon9:c.A1191T:p.A397A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.A1191T:p.A397A;	0.00254617292156514	0.028
18	12485998	T	C	18	12485999	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128626:exon9:c.A1191G:p.A397A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.A1191G:p.A397A;	0.00514850556055822	0.024
18	12485998	T	G	18	12485999	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128626:exon9:c.A1191C:p.A397A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.A1191C:p.A397A;	0.0033899060040606	0.066
18	12485999	G	A	18	12486000	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128626:exon9:c.C1190T:p.A397V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.C1190T:p.A397V;	0.0353672536879212	0.202
18	12485999	G	C	18	12486000	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128626:exon9:c.C1190G:p.A397G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.C1190G:p.A397G;	0.00150358129433983	0.134
18	12485999	G	T	18	12486000	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128626:exon9:c.C1190A:p.A397E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon9:c.C1190A:p.A397E;	0.606820927183335	0.542
18	12486000	C	A	18	12486001	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1190-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1190-1G>T)	.	.	0.999990361384395	0.936
18	12486000	C	G	18	12486001	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1190-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1190-1G>C)	.	.	0.999990361384395	0.936
18	12486000	C	T	18	12486001	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1190-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1190-1G>A)	.	.	0.999990361384395	0.936
18	12486001	T	A	18	12486002	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1190-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1190-2A>T)	.	.	0.999988247793601	0.93
18	12486001	T	C	18	12486002	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1190-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1190-2A>G)	.	.	0.999988247793601	0.93
18	12486001	T	G	18	12486002	y	y	splicing	SPIRE1(NM_001128626:exon10:c.1190-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon10:c.1190-2A>C)	.	.	0.999988247793601	0.93
18	12486002	G	A	18	12486003	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.161516548276695	0.144
18	12486002	G	C	18	12486003	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999923168148547	0.932
18	12486002	G	T	18	12486003	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.985227581603673	0.606
18	12486003	A	C	18	12486004	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.9469183429777E-5	0.0
18	12486003	A	G	18	12486004	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.27845550312411E-5	0.0
18	12486003	A	T	18	12486004	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.85629413592391E-5	0.0
18	12486004	A	C	18	12486005	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.101152387802097	0.282
18	12486004	A	G	18	12486005	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00524551722644599	0.062
18	12486004	A	T	18	12486005	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00598689050570419	0.202
18	12486005	A	C	18	12486006	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.158343196303768	0.31
18	12486005	A	G	18	12486006	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.012140303280071	0.116
18	12486005	A	T	18	12486006	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.316189887097574	0.366
18	12486006	A	C	18	12486007	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.33794497322216E-4	0.04
18	12486006	A	G	18	12486007	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.36774592280542E-5	0.0
18	12486006	A	T	18	12486007	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00170654443787094	0.032
18	12486007	A	C	18	12486008	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.17727901194665	0.338
18	12486007	A	G	18	12486008	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.093581246965992	0.3
18	12486007	A	T	18	12486008	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.466538113209621	0.364
18	12486008	A	C	18	12486009	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.246350280027481	0.436
18	12486008	A	G	18	12486009	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0502538166188196	0.302
18	12486008	A	T	18	12486009	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.43369442182892	0.436
18	12486009	A	C	18	12486010	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.203711328261852	0.442
18	12486009	A	G	18	12486010	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0912781773023048	0.396
18	12486009	A	T	18	12486010	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.801500495284122	0.49
18	12486010	G	A	18	12486011	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00264644121503586	0.048
18	12486010	G	C	18	12486011	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00373478847045998	0.068
18	12486010	G	T	18	12486011	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0102697309214263	0.182
18	12486011	A	C	18	12486012	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.49781565620712	0.494
18	12486011	A	G	18	12486012	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.16100311328647	0.356
18	12486011	A	T	18	12486012	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.905712598799196	0.53
18	12493063	G	A	18	12493064	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.20279124519223E-5	0.0
18	12493063	G	C	18	12493064	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.29444940048665E-5	0.004
18	12493063	G	T	18	12493064	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.29444940048665E-5	0.004
18	12493064	G	A	18	12493065	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.09390827028168E-5	0.0
18	12493064	G	C	18	12493065	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.54392878249129E-5	0.0
18	12493064	G	T	18	12493065	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.04385366056624E-5	0.002
18	12493065	A	C	18	12493066	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00120644445399879	0.186
18	12493065	A	G	18	12493066	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00643265747631379	0.272
18	12493065	A	T	18	12493066	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0265943661064224	0.256
18	12493066	C	A	18	12493067	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.993389853815484	0.91
18	12493066	C	G	18	12493067	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.985708156683122	0.886
18	12493066	C	T	18	12493067	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.995499228529168	0.922
18	12493067	T	A	18	12493068	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.964591519038328	0.664
18	12493067	T	C	18	12493068	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.910151716931641	0.654
18	12493067	T	G	18	12493068	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.408394076488697	0.49
18	12493068	C	A	18	12493069	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.536344885677235	0.484
18	12493068	C	G	18	12493069	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.240169153126156	0.474
18	12493068	C	T	18	12493069	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.35745369893966E-4	0.0
18	12493069	A	C	18	12493070	y	y	splicing	SPIRE1(NM_001128627:exon9:c.829+2T>G;NM_001128626:exon9:c.1189+2T>G;NM_020148:exon9:c.1189+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1189+2T>G;ENST00000410092:exon9:c.1189+2T>G;ENST00000309836:exon8:c.598+2T>G;ENST00000440472:exon10:c.712+2T>G;ENST00000453447:exon9:c.829+2T>G;ENST00000592156:exon4:c.260+2T>G;ENST00000383356:exon9:c.712+2T>G)	.	.	0.999966514958823	0.94
18	12493069	A	G	18	12493070	y	y	splicing	SPIRE1(NM_001128627:exon9:c.829+2T>C;NM_001128626:exon9:c.1189+2T>C;NM_020148:exon9:c.1189+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1189+2T>C;ENST00000410092:exon9:c.1189+2T>C;ENST00000309836:exon8:c.598+2T>C;ENST00000440472:exon10:c.712+2T>C;ENST00000453447:exon9:c.829+2T>C;ENST00000592156:exon4:c.260+2T>C;ENST00000383356:exon9:c.712+2T>C)	.	.	0.999827552774224	0.9
18	12493069	A	T	18	12493070	y	y	splicing	SPIRE1(NM_001128627:exon9:c.829+2T>A;NM_001128626:exon9:c.1189+2T>A;NM_020148:exon9:c.1189+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1189+2T>A;ENST00000410092:exon9:c.1189+2T>A;ENST00000309836:exon8:c.598+2T>A;ENST00000440472:exon10:c.712+2T>A;ENST00000453447:exon9:c.829+2T>A;ENST00000592156:exon4:c.260+2T>A;ENST00000383356:exon9:c.712+2T>A)	.	.	0.999966514958823	0.944
18	12493070	C	A	18	12493071	y	y	splicing	SPIRE1(NM_001128627:exon9:c.829+1G>T;NM_001128626:exon9:c.1189+1G>T;NM_020148:exon9:c.1189+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1189+1G>T;ENST00000410092:exon9:c.1189+1G>T;ENST00000309836:exon8:c.598+1G>T;ENST00000440472:exon10:c.712+1G>T;ENST00000453447:exon9:c.829+1G>T;ENST00000592156:exon4:c.260+1G>T;ENST00000383356:exon9:c.712+1G>T)	.	.	0.999915710762489	0.952
18	12493070	C	G	18	12493071	y	y	splicing	SPIRE1(NM_001128627:exon9:c.829+1G>C;NM_001128626:exon9:c.1189+1G>C;NM_020148:exon9:c.1189+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1189+1G>C;ENST00000410092:exon9:c.1189+1G>C;ENST00000309836:exon8:c.598+1G>C;ENST00000440472:exon10:c.712+1G>C;ENST00000453447:exon9:c.829+1G>C;ENST00000592156:exon4:c.260+1G>C;ENST00000383356:exon9:c.712+1G>C)	.	.	0.999916487880886	0.94
18	12493070	C	T	18	12493071	y	y	splicing	SPIRE1(NM_001128627:exon9:c.829+1G>A;NM_001128626:exon9:c.1189+1G>A;NM_020148:exon9:c.1189+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1189+1G>A;ENST00000410092:exon9:c.1189+1G>A;ENST00000309836:exon8:c.598+1G>A;ENST00000440472:exon10:c.712+1G>A;ENST00000453447:exon9:c.829+1G>A;ENST00000592156:exon4:c.260+1G>A;ENST00000383356:exon9:c.712+1G>A)	.	.	0.999915710762489	0.952
18	12493071	C	A	18	12493072	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.G829T:p.D277Y;SPIRE1:NM_020148:exon8:c.G1189T:p.D397Y;SPIRE1:NM_001128626:exon8:c.G1189T:p.A397S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.G1189T:p.A397S;ENSG00000134278:ENST00000440472:exon9:c.G712T:p.D238Y;ENSG00000134278:ENST00000383356:exon8:c.G712T:p.D238Y;ENSG00000134278:ENST00000453447:exon8:c.G829T:p.D277Y;ENSG00000134278:ENST00000410092:exon8:c.G1189T:p.D397Y;ENSG00000134278:ENST00000309836:exon7:c.G598T:p.D200Y;	0.977269735665441	0.782
18	12493071	C	G	18	12493072	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.G829C:p.D277H;SPIRE1:NM_020148:exon8:c.G1189C:p.D397H;SPIRE1:NM_001128626:exon8:c.G1189C:p.A397P;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.G1189C:p.A397P;ENSG00000134278:ENST00000440472:exon9:c.G712C:p.D238H;ENSG00000134278:ENST00000383356:exon8:c.G712C:p.D238H;ENSG00000134278:ENST00000453447:exon8:c.G829C:p.D277H;ENSG00000134278:ENST00000410092:exon8:c.G1189C:p.D397H;ENSG00000134278:ENST00000309836:exon7:c.G598C:p.D200H;	0.985879833762533	0.82
18	12493071	C	T	18	12493072	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.G829A:p.D277N;SPIRE1:NM_020148:exon8:c.G1189A:p.D397N;SPIRE1:NM_001128626:exon8:c.G1189A:p.A397T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.G1189A:p.A397T;ENSG00000134278:ENST00000440472:exon9:c.G712A:p.D238N;ENSG00000134278:ENST00000383356:exon8:c.G712A:p.D238N;ENSG00000134278:ENST00000453447:exon8:c.G829A:p.D277N;ENSG00000134278:ENST00000410092:exon8:c.G1189A:p.D397N;ENSG00000134278:ENST00000309836:exon7:c.G598A:p.D200N;	0.983036552269578	0.88
18	12493072	T	A	18	12493073	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.A828T:p.L276F;SPIRE1:NM_020148:exon8:c.A1188T:p.L396F;SPIRE1:NM_001128626:exon8:c.A1188T:p.L396F;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.A1188T:p.L396F;ENSG00000134278:ENST00000440472:exon9:c.A711T:p.L237F;ENSG00000134278:ENST00000383356:exon8:c.A711T:p.L237F;ENSG00000134278:ENST00000453447:exon8:c.A828T:p.L276F;ENSG00000134278:ENST00000410092:exon8:c.A1188T:p.L396F;ENSG00000134278:ENST00000309836:exon7:c.A597T:p.L199F;	0.0271895338575605	0.442
18	12493072	T	C	18	12493073	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon8:c.A828G:p.L276L;SPIRE1:NM_020148:exon8:c.A1188G:p.L396L;SPIRE1:NM_001128626:exon8:c.A1188G:p.L396L;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.A1188G:p.L396L;ENSG00000134278:ENST00000440472:exon9:c.A711G:p.L237L;ENSG00000134278:ENST00000383356:exon8:c.A711G:p.L237L;ENSG00000134278:ENST00000453447:exon8:c.A828G:p.L276L;ENSG00000134278:ENST00000410092:exon8:c.A1188G:p.L396L;ENSG00000134278:ENST00000309836:exon7:c.A597G:p.L199L;	0.02686258030019	0.28
18	12493072	T	G	18	12493073	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.A828C:p.L276F;SPIRE1:NM_020148:exon8:c.A1188C:p.L396F;SPIRE1:NM_001128626:exon8:c.A1188C:p.L396F;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.A1188C:p.L396F;ENSG00000134278:ENST00000440472:exon9:c.A711C:p.L237F;ENSG00000134278:ENST00000383356:exon8:c.A711C:p.L237F;ENSG00000134278:ENST00000453447:exon8:c.A828C:p.L276F;ENSG00000134278:ENST00000410092:exon8:c.A1188C:p.L396F;ENSG00000134278:ENST00000309836:exon7:c.A597C:p.L199F;	0.0350049818835518	0.446
18	12493073	A	C	18	12493074	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon8:c.T827G:p.L276X;SPIRE1:NM_020148:exon8:c.T1187G:p.L396X;SPIRE1:NM_001128626:exon8:c.T1187G:p.L396X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon8:c.T1187G:p.L396X;ENSG00000134278:ENST00000440472:exon9:c.T710G:p.L237X;ENSG00000134278:ENST00000383356:exon8:c.T710G:p.L237X;ENSG00000134278:ENST00000453447:exon8:c.T827G:p.L276X;ENSG00000134278:ENST00000410092:exon8:c.T1187G:p.L396X;ENSG00000134278:ENST00000309836:exon7:c.T596G:p.L199X;	1.04305144047705E-4	0.308
18	12493073	A	G	18	12493074	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.T827C:p.L276S;SPIRE1:NM_020148:exon8:c.T1187C:p.L396S;SPIRE1:NM_001128626:exon8:c.T1187C:p.L396S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.T1187C:p.L396S;ENSG00000134278:ENST00000440472:exon9:c.T710C:p.L237S;ENSG00000134278:ENST00000383356:exon8:c.T710C:p.L237S;ENSG00000134278:ENST00000453447:exon8:c.T827C:p.L276S;ENSG00000134278:ENST00000410092:exon8:c.T1187C:p.L396S;ENSG00000134278:ENST00000309836:exon7:c.T596C:p.L199S;	5.74669590751918E-5	0.062
18	12493073	A	T	18	12493074	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon8:c.T827A:p.L276X;SPIRE1:NM_020148:exon8:c.T1187A:p.L396X;SPIRE1:NM_001128626:exon8:c.T1187A:p.L396X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon8:c.T1187A:p.L396X;ENSG00000134278:ENST00000440472:exon9:c.T710A:p.L237X;ENSG00000134278:ENST00000383356:exon8:c.T710A:p.L237X;ENSG00000134278:ENST00000453447:exon8:c.T827A:p.L276X;ENSG00000134278:ENST00000410092:exon8:c.T1187A:p.L396X;ENSG00000134278:ENST00000309836:exon7:c.T596A:p.L199X;	6.58855632832588E-5	0.308
18	12493199	A	C	18	12493200	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.T701G:p.V234G;SPIRE1:NM_020148:exon8:c.T1061G:p.V354G;SPIRE1:NM_001128626:exon8:c.T1061G:p.V354G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.T1061G:p.V354G;ENSG00000134278:ENST00000440472:exon9:c.T584G:p.V195G;ENSG00000134278:ENST00000383356:exon8:c.T584G:p.V195G;ENSG00000134278:ENST00000453447:exon8:c.T701G:p.V234G;ENSG00000134278:ENST00000410092:exon8:c.T1061G:p.V354G;ENSG00000134278:ENST00000309836:exon7:c.T470G:p.V157G;	4.05792387248941E-5	0.042
18	12493199	A	G	18	12493200	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.T701C:p.V234A;SPIRE1:NM_020148:exon8:c.T1061C:p.V354A;SPIRE1:NM_001128626:exon8:c.T1061C:p.V354A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.T1061C:p.V354A;ENSG00000134278:ENST00000440472:exon9:c.T584C:p.V195A;ENSG00000134278:ENST00000383356:exon8:c.T584C:p.V195A;ENSG00000134278:ENST00000453447:exon8:c.T701C:p.V234A;ENSG00000134278:ENST00000410092:exon8:c.T1061C:p.V354A;ENSG00000134278:ENST00000309836:exon7:c.T470C:p.V157A;	3.0407308480961E-4	0.038
18	12493199	A	T	18	12493200	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.T701A:p.V234D;SPIRE1:NM_020148:exon8:c.T1061A:p.V354D;SPIRE1:NM_001128626:exon8:c.T1061A:p.V354D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.T1061A:p.V354D;ENSG00000134278:ENST00000440472:exon9:c.T584A:p.V195D;ENSG00000134278:ENST00000383356:exon8:c.T584A:p.V195D;ENSG00000134278:ENST00000453447:exon8:c.T701A:p.V234D;ENSG00000134278:ENST00000410092:exon8:c.T1061A:p.V354D;ENSG00000134278:ENST00000309836:exon7:c.T470A:p.V157D;	3.44338680545383E-5	0.054
18	12493200	C	A	18	12493201	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.G700T:p.V234F;SPIRE1:NM_020148:exon8:c.G1060T:p.V354F;SPIRE1:NM_001128626:exon8:c.G1060T:p.V354F;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.G1060T:p.V354F;ENSG00000134278:ENST00000440472:exon9:c.G583T:p.V195F;ENSG00000134278:ENST00000383356:exon8:c.G583T:p.V195F;ENSG00000134278:ENST00000453447:exon8:c.G700T:p.V234F;ENSG00000134278:ENST00000410092:exon8:c.G1060T:p.V354F;ENSG00000134278:ENST00000309836:exon7:c.G469T:p.V157F;	0.999731643917026	0.97
18	12493200	C	G	18	12493201	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.G700C:p.V234L;SPIRE1:NM_020148:exon8:c.G1060C:p.V354L;SPIRE1:NM_001128626:exon8:c.G1060C:p.V354L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.G1060C:p.V354L;ENSG00000134278:ENST00000440472:exon9:c.G583C:p.V195L;ENSG00000134278:ENST00000383356:exon8:c.G583C:p.V195L;ENSG00000134278:ENST00000453447:exon8:c.G700C:p.V234L;ENSG00000134278:ENST00000410092:exon8:c.G1060C:p.V354L;ENSG00000134278:ENST00000309836:exon7:c.G469C:p.V157L;	0.999622545107322	0.932
18	12493200	C	T	18	12493201	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon8:c.G700A:p.V234I;SPIRE1:NM_020148:exon8:c.G1060A:p.V354I;SPIRE1:NM_001128626:exon8:c.G1060A:p.V354I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon8:c.G1060A:p.V354I;ENSG00000134278:ENST00000440472:exon9:c.G583A:p.V195I;ENSG00000134278:ENST00000383356:exon8:c.G583A:p.V195I;ENSG00000134278:ENST00000453447:exon8:c.G700A:p.V234I;ENSG00000134278:ENST00000410092:exon8:c.G1060A:p.V354I;ENSG00000134278:ENST00000309836:exon7:c.G469A:p.V157I;	0.995102603828105	0.936
18	12493201	C	A	18	12493202	y	y	splicing	SPIRE1(NM_001128627:exon9:c.700-1G>T;NM_001128626:exon9:c.1060-1G>T;NM_020148:exon9:c.1060-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1060-1G>T;ENST00000410092:exon9:c.1060-1G>T;ENST00000309836:exon8:c.469-1G>T;ENST00000440472:exon10:c.583-1G>T;ENST00000453447:exon9:c.700-1G>T;ENST00000592156:exon4:c.131-1G>T;ENST00000383356:exon9:c.583-1G>T)	.	.	0.999981760802075	0.936
18	12493201	C	G	18	12493202	y	y	splicing	SPIRE1(NM_001128627:exon9:c.700-1G>C;NM_001128626:exon9:c.1060-1G>C;NM_020148:exon9:c.1060-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1060-1G>C;ENST00000410092:exon9:c.1060-1G>C;ENST00000309836:exon8:c.469-1G>C;ENST00000440472:exon10:c.583-1G>C;ENST00000453447:exon9:c.700-1G>C;ENST00000592156:exon4:c.131-1G>C;ENST00000383356:exon9:c.583-1G>C)	.	.	0.999981760802075	0.936
18	12493201	C	T	18	12493202	y	y	splicing	SPIRE1(NM_001128627:exon9:c.700-1G>A;NM_001128626:exon9:c.1060-1G>A;NM_020148:exon9:c.1060-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1060-1G>A;ENST00000410092:exon9:c.1060-1G>A;ENST00000309836:exon8:c.469-1G>A;ENST00000440472:exon10:c.583-1G>A;ENST00000453447:exon9:c.700-1G>A;ENST00000592156:exon4:c.131-1G>A;ENST00000383356:exon9:c.583-1G>A)	.	.	0.999981760802075	0.936
18	12493202	T	A	18	12493203	y	y	splicing	SPIRE1(NM_001128627:exon9:c.700-2A>T;NM_001128626:exon9:c.1060-2A>T;NM_020148:exon9:c.1060-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1060-2A>T;ENST00000410092:exon9:c.1060-2A>T;ENST00000309836:exon8:c.469-2A>T;ENST00000440472:exon10:c.583-2A>T;ENST00000453447:exon9:c.700-2A>T;ENST00000592156:exon4:c.131-2A>T;ENST00000383356:exon9:c.583-2A>T)	.	.	0.999989917668626	0.926
18	12493202	T	C	18	12493203	y	y	splicing	SPIRE1(NM_001128627:exon9:c.700-2A>G;NM_001128626:exon9:c.1060-2A>G;NM_020148:exon9:c.1060-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1060-2A>G;ENST00000410092:exon9:c.1060-2A>G;ENST00000309836:exon8:c.469-2A>G;ENST00000440472:exon10:c.583-2A>G;ENST00000453447:exon9:c.700-2A>G;ENST00000592156:exon4:c.131-2A>G;ENST00000383356:exon9:c.583-2A>G)	.	.	0.999986903042585	0.928
18	12493202	T	G	18	12493203	y	y	splicing	SPIRE1(NM_001128627:exon9:c.700-2A>C;NM_001128626:exon9:c.1060-2A>C;NM_020148:exon9:c.1060-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon9:c.1060-2A>C;ENST00000410092:exon9:c.1060-2A>C;ENST00000309836:exon8:c.469-2A>C;ENST00000440472:exon10:c.583-2A>C;ENST00000453447:exon9:c.700-2A>C;ENST00000592156:exon4:c.131-2A>C;ENST00000383356:exon9:c.583-2A>C)	.	.	0.999986903042585	0.928
18	12493203	T	A	18	12493204	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.97230123315257E-5	0.0
18	12493203	T	C	18	12493204	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0280102826901638	0.186
18	12493203	T	G	18	12493204	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.68637761158165E-5	0.028
18	12493204	G	A	18	12493205	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.5884103616323E-5	0.0
18	12493204	G	C	18	12493205	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.72962274039379E-4	0.002
18	12493204	G	T	18	12493205	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.5884103616323E-5	0.004
18	12493205	A	C	18	12493206	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00256144093630728	0.174
18	12493205	A	G	18	12493206	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.29251403678867E-4	0.016
18	12493205	A	T	18	12493206	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00246408751596487	0.17
18	12493206	A	C	18	12493207	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00729295227712664	0.096
18	12493206	A	G	18	12493207	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.20035494811315E-4	0.002
18	12493206	A	T	18	12493207	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00562521821426394	0.11
18	12493207	A	C	18	12493208	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00157676839053159	0.096
18	12493207	A	G	18	12493208	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.72727922781387E-5	0.002
18	12493207	A	T	18	12493208	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00167502717745489	0.128
18	12493208	G	A	18	12493209	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.19404206227756E-5	0.0
18	12493208	G	C	18	12493209	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.954613756125436	0.916
18	12493208	G	T	18	12493209	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.94485705622157E-4	0.01
18	12493209	T	A	18	12493210	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.34178563451979E-5	0.0
18	12493209	T	C	18	12493210	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.95614763868099E-5	0.0
18	12493209	T	G	18	12493210	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.98033405615861E-6	0.0
18	12493210	A	C	18	12493211	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.08462180195117E-4	0.148
18	12493210	A	G	18	12493211	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.74354028432041E-4	0.008
18	12493210	A	T	18	12493211	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0052799599507125	0.142
18	12493211	A	C	18	12493212	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00133209884191776	0.186
18	12493211	A	G	18	12493212	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00186308245197067	0.084
18	12493211	A	T	18	12493212	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00168506020546299	0.176
18	12493212	G	A	18	12493213	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.09090527658E-5	0.0
18	12493212	G	C	18	12493213	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.38986910316813E-5	0.028
18	12493212	G	T	18	12493213	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.78772170662095E-4	0.03
18	12496007	T	A	18	12496008	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.51753233322841E-5	0.0
18	12496007	T	C	18	12496008	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.62312550225043E-5	0.0
18	12496007	T	G	18	12496008	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.92767327837562E-5	0.0
18	12496008	T	A	18	12496009	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.47690960612831E-4	0.018
18	12496008	T	C	18	12496009	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.34761161707935E-4	0.008
18	12496008	T	G	18	12496009	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.20425028644203E-4	0.0
18	12496009	A	C	18	12496010	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.976508571901395	0.778
18	12496009	A	G	18	12496010	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.966031254715874	0.83
18	12496009	A	T	18	12496010	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.979702055805598	0.778
18	12496010	C	A	18	12496011	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999989445329467	0.964
18	12496010	C	G	18	12496011	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999989445329467	0.966
18	12496010	C	T	18	12496011	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99996324871943	0.976
18	12496011	A	C	18	12496012	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.36367641877687E-4	0.032
18	12496011	A	G	18	12496012	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.77470930524722E-5	0.026
18	12496011	A	T	18	12496012	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.9545572382281E-5	0.04
18	12496012	T	A	18	12496013	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999880030985536	0.87
18	12496012	T	C	18	12496013	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.995172144123135	0.794
18	12496012	T	G	18	12496013	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999583834338979	0.75
18	12496013	A	C	18	12496014	y	y	splicing	SPIRE1(NM_001128627:exon8:c.699+2T>G;NM_001128626:exon8:c.1059+2T>G;NM_020148:exon8:c.1059+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.1059+2T>G;ENST00000410092:exon8:c.1059+2T>G;ENST00000309836:exon7:c.468+2T>G;ENST00000440472:exon9:c.582+2T>G;ENST00000453447:exon8:c.699+2T>G;ENST00000592156:exon3:c.130+2T>G;ENST00000383356:exon8:c.582+2T>G)	.	.	0.999988247793601	0.948
18	12496013	A	G	18	12496014	y	y	splicing	SPIRE1(NM_001128627:exon8:c.699+2T>C;NM_001128626:exon8:c.1059+2T>C;NM_020148:exon8:c.1059+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.1059+2T>C;ENST00000410092:exon8:c.1059+2T>C;ENST00000309836:exon7:c.468+2T>C;ENST00000440472:exon9:c.582+2T>C;ENST00000453447:exon8:c.699+2T>C;ENST00000592156:exon3:c.130+2T>C;ENST00000383356:exon8:c.582+2T>C)	.	.	0.994951186863649	0.746
18	12496013	A	T	18	12496014	y	y	splicing	SPIRE1(NM_001128627:exon8:c.699+2T>A;NM_001128626:exon8:c.1059+2T>A;NM_020148:exon8:c.1059+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.1059+2T>A;ENST00000410092:exon8:c.1059+2T>A;ENST00000309836:exon7:c.468+2T>A;ENST00000440472:exon9:c.582+2T>A;ENST00000453447:exon8:c.699+2T>A;ENST00000592156:exon3:c.130+2T>A;ENST00000383356:exon8:c.582+2T>A)	.	.	0.999988247793601	0.948
18	12496014	C	A	18	12496015	y	y	splicing	SPIRE1(NM_001128627:exon8:c.699+1G>T;NM_001128626:exon8:c.1059+1G>T;NM_020148:exon8:c.1059+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.1059+1G>T;ENST00000410092:exon8:c.1059+1G>T;ENST00000309836:exon7:c.468+1G>T;ENST00000440472:exon9:c.582+1G>T;ENST00000453447:exon8:c.699+1G>T;ENST00000592156:exon3:c.130+1G>T;ENST00000383356:exon8:c.582+1G>T)	.	.	0.999985532734767	0.946
18	12496014	C	G	18	12496015	y	y	splicing	SPIRE1(NM_001128627:exon8:c.699+1G>C;NM_001128626:exon8:c.1059+1G>C;NM_020148:exon8:c.1059+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.1059+1G>C;ENST00000410092:exon8:c.1059+1G>C;ENST00000309836:exon7:c.468+1G>C;ENST00000440472:exon9:c.582+1G>C;ENST00000453447:exon8:c.699+1G>C;ENST00000592156:exon3:c.130+1G>C;ENST00000383356:exon8:c.582+1G>C)	.	.	0.999985532734767	0.946
18	12496014	C	T	18	12496015	y	y	splicing	SPIRE1(NM_001128627:exon8:c.699+1G>A;NM_001128626:exon8:c.1059+1G>A;NM_020148:exon8:c.1059+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.1059+1G>A;ENST00000410092:exon8:c.1059+1G>A;ENST00000309836:exon7:c.468+1G>A;ENST00000440472:exon9:c.582+1G>A;ENST00000453447:exon8:c.699+1G>A;ENST00000592156:exon3:c.130+1G>A;ENST00000383356:exon8:c.582+1G>A)	.	.	0.999985532734767	0.946
18	12496015	T	A	18	12496016	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon7:c.A699T:p.P233P;SPIRE1:NM_020148:exon7:c.A1059T:p.P353P;SPIRE1:NM_001128626:exon7:c.A1059T:p.P353P;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.A1059T:p.P353P;ENSG00000134278:ENST00000440472:exon8:c.A582T:p.P194P;ENSG00000134278:ENST00000383356:exon7:c.A582T:p.P194P;ENSG00000134278:ENST00000453447:exon7:c.A699T:p.P233P;ENSG00000134278:ENST00000410092:exon7:c.A1059T:p.P353P;ENSG00000134278:ENST00000309836:exon6:c.A468T:p.P156P;	0.00412485562190268	0.07
18	12496015	T	C	18	12496016	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon7:c.A699G:p.P233P;SPIRE1:NM_020148:exon7:c.A1059G:p.P353P;SPIRE1:NM_001128626:exon7:c.A1059G:p.P353P;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.A1059G:p.P353P;ENSG00000134278:ENST00000440472:exon8:c.A582G:p.P194P;ENSG00000134278:ENST00000383356:exon7:c.A582G:p.P194P;ENSG00000134278:ENST00000453447:exon7:c.A699G:p.P233P;ENSG00000134278:ENST00000410092:exon7:c.A1059G:p.P353P;ENSG00000134278:ENST00000309836:exon6:c.A468G:p.P156P;	5.06196192540631E-4	0.154
18	12496015	T	G	18	12496016	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon7:c.A699C:p.P233P;SPIRE1:NM_020148:exon7:c.A1059C:p.P353P;SPIRE1:NM_001128626:exon7:c.A1059C:p.P353P;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.A1059C:p.P353P;ENSG00000134278:ENST00000440472:exon8:c.A582C:p.P194P;ENSG00000134278:ENST00000383356:exon7:c.A582C:p.P194P;ENSG00000134278:ENST00000453447:exon7:c.A699C:p.P233P;ENSG00000134278:ENST00000410092:exon7:c.A1059C:p.P353P;ENSG00000134278:ENST00000309836:exon6:c.A468C:p.P156P;	6.37817924962722E-4	0.07
18	12496016	G	A	18	12496017	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.C698T:p.P233L;SPIRE1:NM_020148:exon7:c.C1058T:p.P353L;SPIRE1:NM_001128626:exon7:c.C1058T:p.P353L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.C1058T:p.P353L;ENSG00000134278:ENST00000440472:exon8:c.C581T:p.P194L;ENSG00000134278:ENST00000383356:exon7:c.C581T:p.P194L;ENSG00000134278:ENST00000453447:exon7:c.C698T:p.P233L;ENSG00000134278:ENST00000410092:exon7:c.C1058T:p.P353L;ENSG00000134278:ENST00000309836:exon6:c.C467T:p.P156L;	0.99641304874027	0.854
18	12496016	G	C	18	12496017	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.C698G:p.P233R;SPIRE1:NM_020148:exon7:c.C1058G:p.P353R;SPIRE1:NM_001128626:exon7:c.C1058G:p.P353R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.C1058G:p.P353R;ENSG00000134278:ENST00000440472:exon8:c.C581G:p.P194R;ENSG00000134278:ENST00000383356:exon7:c.C581G:p.P194R;ENSG00000134278:ENST00000453447:exon7:c.C698G:p.P233R;ENSG00000134278:ENST00000410092:exon7:c.C1058G:p.P353R;ENSG00000134278:ENST00000309836:exon6:c.C467G:p.P156R;	0.990601143635834	0.74
18	12496016	G	T	18	12496017	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.C698A:p.P233Q;SPIRE1:NM_020148:exon7:c.C1058A:p.P353Q;SPIRE1:NM_001128626:exon7:c.C1058A:p.P353Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.C1058A:p.P353Q;ENSG00000134278:ENST00000440472:exon8:c.C581A:p.P194Q;ENSG00000134278:ENST00000383356:exon7:c.C581A:p.P194Q;ENSG00000134278:ENST00000453447:exon7:c.C698A:p.P233Q;ENSG00000134278:ENST00000410092:exon7:c.C1058A:p.P353Q;ENSG00000134278:ENST00000309836:exon6:c.C467A:p.P156Q;	0.948087832545508	0.562
18	12496017	G	A	18	12496018	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.C697T:p.P233S;SPIRE1:NM_020148:exon7:c.C1057T:p.P353S;SPIRE1:NM_001128626:exon7:c.C1057T:p.P353S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.C1057T:p.P353S;ENSG00000134278:ENST00000440472:exon8:c.C580T:p.P194S;ENSG00000134278:ENST00000383356:exon7:c.C580T:p.P194S;ENSG00000134278:ENST00000453447:exon7:c.C697T:p.P233S;ENSG00000134278:ENST00000410092:exon7:c.C1057T:p.P353S;ENSG00000134278:ENST00000309836:exon6:c.C466T:p.P156S;	0.999684037078489	0.94
18	12496017	G	C	18	12496018	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.C697G:p.P233A;SPIRE1:NM_020148:exon7:c.C1057G:p.P353A;SPIRE1:NM_001128626:exon7:c.C1057G:p.P353A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.C1057G:p.P353A;ENSG00000134278:ENST00000440472:exon8:c.C580G:p.P194A;ENSG00000134278:ENST00000383356:exon7:c.C580G:p.P194A;ENSG00000134278:ENST00000453447:exon7:c.C697G:p.P233A;ENSG00000134278:ENST00000410092:exon7:c.C1057G:p.P353A;ENSG00000134278:ENST00000309836:exon6:c.C466G:p.P156A;	0.980983521471394	0.682
18	12496017	G	T	18	12496018	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.C697A:p.P233T;SPIRE1:NM_020148:exon7:c.C1057A:p.P353T;SPIRE1:NM_001128626:exon7:c.C1057A:p.P353T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.C1057A:p.P353T;ENSG00000134278:ENST00000440472:exon8:c.C580A:p.P194T;ENSG00000134278:ENST00000383356:exon7:c.C580A:p.P194T;ENSG00000134278:ENST00000453447:exon7:c.C697A:p.P233T;ENSG00000134278:ENST00000410092:exon7:c.C1057A:p.P353T;ENSG00000134278:ENST00000309836:exon6:c.C466A:p.P156T;	0.950434337910873	0.798
18	12496100	A	C	18	12496101	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.T614G:p.V205G;SPIRE1:NM_020148:exon7:c.T974G:p.V325G;SPIRE1:NM_001128626:exon7:c.T974G:p.V325G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.T974G:p.V325G;ENSG00000134278:ENST00000440472:exon8:c.T497G:p.V166G;ENSG00000134278:ENST00000383356:exon7:c.T497G:p.V166G;ENSG00000134278:ENST00000453447:exon7:c.T614G:p.V205G;ENSG00000134278:ENST00000410092:exon7:c.T974G:p.V325G;ENSG00000134278:ENST00000309836:exon6:c.T383G:p.V128G;	0.299784803755295	0.574
18	12496100	A	G	18	12496101	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.T614C:p.V205A;SPIRE1:NM_020148:exon7:c.T974C:p.V325A;SPIRE1:NM_001128626:exon7:c.T974C:p.V325A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.T974C:p.V325A;ENSG00000134278:ENST00000440472:exon8:c.T497C:p.V166A;ENSG00000134278:ENST00000383356:exon7:c.T497C:p.V166A;ENSG00000134278:ENST00000453447:exon7:c.T614C:p.V205A;ENSG00000134278:ENST00000410092:exon7:c.T974C:p.V325A;ENSG00000134278:ENST00000309836:exon6:c.T383C:p.V128A;	0.31220326061805	0.584
18	12496100	A	T	18	12496101	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.T614A:p.V205E;SPIRE1:NM_020148:exon7:c.T974A:p.V325E;SPIRE1:NM_001128626:exon7:c.T974A:p.V325E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.T974A:p.V325E;ENSG00000134278:ENST00000440472:exon8:c.T497A:p.V166E;ENSG00000134278:ENST00000383356:exon7:c.T497A:p.V166E;ENSG00000134278:ENST00000453447:exon7:c.T614A:p.V205E;ENSG00000134278:ENST00000410092:exon7:c.T974A:p.V325E;ENSG00000134278:ENST00000309836:exon6:c.T383A:p.V128E;	0.376793436909505	0.642
18	12496101	C	A	18	12496102	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.G613T:p.V205L;SPIRE1:NM_020148:exon7:c.G973T:p.V325L;SPIRE1:NM_001128626:exon7:c.G973T:p.V325L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.G973T:p.V325L;ENSG00000134278:ENST00000440472:exon8:c.G496T:p.V166L;ENSG00000134278:ENST00000383356:exon7:c.G496T:p.V166L;ENSG00000134278:ENST00000453447:exon7:c.G613T:p.V205L;ENSG00000134278:ENST00000410092:exon7:c.G973T:p.V325L;ENSG00000134278:ENST00000309836:exon6:c.G382T:p.V128L;	0.998920274525436	0.78
18	12496101	C	G	18	12496102	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.G613C:p.V205L;SPIRE1:NM_020148:exon7:c.G973C:p.V325L;SPIRE1:NM_001128626:exon7:c.G973C:p.V325L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.G973C:p.V325L;ENSG00000134278:ENST00000440472:exon8:c.G496C:p.V166L;ENSG00000134278:ENST00000383356:exon7:c.G496C:p.V166L;ENSG00000134278:ENST00000453447:exon7:c.G613C:p.V205L;ENSG00000134278:ENST00000410092:exon7:c.G973C:p.V325L;ENSG00000134278:ENST00000309836:exon6:c.G382C:p.V128L;	0.998582862553779	0.768
18	12496101	C	T	18	12496102	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon7:c.G613A:p.V205M;SPIRE1:NM_020148:exon7:c.G973A:p.V325M;SPIRE1:NM_001128626:exon7:c.G973A:p.V325M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon7:c.G973A:p.V325M;ENSG00000134278:ENST00000440472:exon8:c.G496A:p.V166M;ENSG00000134278:ENST00000383356:exon7:c.G496A:p.V166M;ENSG00000134278:ENST00000453447:exon7:c.G613A:p.V205M;ENSG00000134278:ENST00000410092:exon7:c.G973A:p.V325M;ENSG00000134278:ENST00000309836:exon6:c.G382A:p.V128M;	0.998015300546681	0.796
18	12496102	C	A	18	12496103	y	y	splicing	SPIRE1(NM_001128627:exon8:c.613-1G>T;NM_001128626:exon8:c.973-1G>T;NM_020148:exon8:c.973-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.973-1G>T;ENST00000410092:exon8:c.973-1G>T;ENST00000309836:exon7:c.382-1G>T;ENST00000440472:exon9:c.496-1G>T;ENST00000453447:exon8:c.613-1G>T;ENST00000592156:exon3:c.44-1G>T;ENST00000383356:exon8:c.496-1G>T)	.	.	0.999990361384395	0.938
18	12496102	C	G	18	12496103	y	y	splicing	SPIRE1(NM_001128627:exon8:c.613-1G>C;NM_001128626:exon8:c.973-1G>C;NM_020148:exon8:c.973-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.973-1G>C;ENST00000410092:exon8:c.973-1G>C;ENST00000309836:exon7:c.382-1G>C;ENST00000440472:exon9:c.496-1G>C;ENST00000453447:exon8:c.613-1G>C;ENST00000592156:exon3:c.44-1G>C;ENST00000383356:exon8:c.496-1G>C)	.	.	0.999990361384395	0.938
18	12496102	C	T	18	12496103	y	y	splicing	SPIRE1(NM_001128627:exon8:c.613-1G>A;NM_001128626:exon8:c.973-1G>A;NM_020148:exon8:c.973-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.973-1G>A;ENST00000410092:exon8:c.973-1G>A;ENST00000309836:exon7:c.382-1G>A;ENST00000440472:exon9:c.496-1G>A;ENST00000453447:exon8:c.613-1G>A;ENST00000592156:exon3:c.44-1G>A;ENST00000383356:exon8:c.496-1G>A)	.	.	0.999990361384395	0.938
18	12496103	T	A	18	12496104	y	y	splicing	SPIRE1(NM_001128627:exon8:c.613-2A>T;NM_001128626:exon8:c.973-2A>T;NM_020148:exon8:c.973-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.973-2A>T;ENST00000410092:exon8:c.973-2A>T;ENST00000309836:exon7:c.382-2A>T;ENST00000440472:exon9:c.496-2A>T;ENST00000453447:exon8:c.613-2A>T;ENST00000592156:exon3:c.44-2A>T;ENST00000383356:exon8:c.496-2A>T)	.	.	0.999988247793601	0.93
18	12496103	T	C	18	12496104	y	y	splicing	SPIRE1(NM_001128627:exon8:c.613-2A>G;NM_001128626:exon8:c.973-2A>G;NM_020148:exon8:c.973-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.973-2A>G;ENST00000410092:exon8:c.973-2A>G;ENST00000309836:exon7:c.382-2A>G;ENST00000440472:exon9:c.496-2A>G;ENST00000453447:exon8:c.613-2A>G;ENST00000592156:exon3:c.44-2A>G;ENST00000383356:exon8:c.496-2A>G)	.	.	0.999988247793601	0.93
18	12496103	T	G	18	12496104	y	y	splicing	SPIRE1(NM_001128627:exon8:c.613-2A>C;NM_001128626:exon8:c.973-2A>C;NM_020148:exon8:c.973-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon8:c.973-2A>C;ENST00000410092:exon8:c.973-2A>C;ENST00000309836:exon7:c.382-2A>C;ENST00000440472:exon9:c.496-2A>C;ENST00000453447:exon8:c.613-2A>C;ENST00000592156:exon3:c.44-2A>C;ENST00000383356:exon8:c.496-2A>C)	.	.	0.999988247793601	0.93
18	12496104	A	C	18	12496105	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.857796908257633	0.578
18	12496104	A	G	18	12496105	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.16211917543082E-4	0.01
18	12496104	A	T	18	12496105	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00122090155675759	0.074
18	12496105	A	C	18	12496106	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.2513559758339E-4	0.02
18	12496105	A	G	18	12496106	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.14701542028553E-4	0.006
18	12496105	A	T	18	12496106	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.0734875142298E-4	0.018
18	12496106	A	C	18	12496107	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.548931617707469	0.55
18	12496106	A	G	18	12496107	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.334658616169182	0.472
18	12496106	A	T	18	12496107	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.788178761982034	0.562
18	12496107	A	C	18	12496108	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00457762472372659	0.218
18	12496107	A	G	18	12496108	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00128514274082439	0.112
18	12496107	A	T	18	12496108	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00286782307529729	0.116
18	12496108	G	A	18	12496109	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.49205057623209E-4	0.044
18	12496108	G	C	18	12496109	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.37491762640565E-4	0.052
18	12496108	G	T	18	12496109	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.48335260895969E-4	0.058
18	12496109	G	A	18	12496110	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.4494472220512E-4	0.008
18	12496109	G	C	18	12496110	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00301437052110516	0.074
18	12496109	G	T	18	12496110	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0019609160127977	0.086
18	12496110	A	C	18	12496111	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.4417153685969	0.462
18	12496110	A	G	18	12496111	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.240265245666867	0.362
18	12496110	A	T	18	12496111	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.465840052365329	0.534
18	12496111	G	A	18	12496112	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.07866918687936E-5	0.036
18	12496111	G	C	18	12496112	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.14546195324191E-4	0.028
18	12496111	G	T	18	12496112	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.62981482501761E-4	0.05
18	12496112	A	C	18	12496113	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.049411455209724	0.374
18	12496112	A	G	18	12496113	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0267776837631698	0.102
18	12496112	A	T	18	12496113	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0364475515286103	0.364
18	12496113	C	A	18	12496114	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.32146996656781E-4	0.012
18	12496113	C	G	18	12496114	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.05635726060076E-5	0.012
18	12496113	C	T	18	12496114	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.0488804291751E-4	0.01
18	12506468	T	A	18	12506469	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39274186124264E-4	0.018
18	12506468	T	C	18	12506469	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.51348127203013E-5	0.0
18	12506468	T	G	18	12506469	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.80223297927725E-4	0.014
18	12506469	T	A	18	12506470	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.15928322694241E-4	0.002
18	12506469	T	C	18	12506470	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51591174045998E-4	0.022
18	12506469	T	G	18	12506470	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.59796617572027E-4	0.03
18	12506470	A	C	18	12506471	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.021305372484488	0.274
18	12506470	A	G	18	12506471	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0294003864906944	0.322
18	12506470	A	T	18	12506471	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.026843194040779	0.328
18	12506471	C	A	18	12506472	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99855691037067	0.826
18	12506471	C	G	18	12506472	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998446690909839	0.86
18	12506471	C	T	18	12506472	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999710916906466	0.896
18	12506472	T	A	18	12506473	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.70431458495004	0.388
18	12506472	T	C	18	12506473	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.943023110228804	0.506
18	12506472	T	G	18	12506473	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.260601192521191	0.44
18	12506473	T	A	18	12506474	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.954279506043343	0.65
18	12506473	T	C	18	12506474	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0104269138006187	0.18
18	12506473	T	G	18	12506474	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.995548309088701	0.848
18	12506474	A	C	18	12506475	y	y	splicing	SPIRE1(NM_001128627:exon7:c.612+2T>G;NM_001128626:exon7:c.972+2T>G;NM_020148:exon7:c.972+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.972+2T>G;ENST00000410092:exon7:c.972+2T>G;ENST00000309836:exon6:c.381+2T>G;ENST00000440472:exon8:c.495+2T>G;ENST00000453447:exon7:c.612+2T>G;ENST00000592156:exon2:c.43+2T>G;ENST00000383356:exon7:c.495+2T>G)	.	.	0.999988247793601	0.928
18	12506474	A	G	18	12506475	y	y	splicing	SPIRE1(NM_001128627:exon7:c.612+2T>C;NM_001128626:exon7:c.972+2T>C;NM_020148:exon7:c.972+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.972+2T>C;ENST00000410092:exon7:c.972+2T>C;ENST00000309836:exon6:c.381+2T>C;ENST00000440472:exon8:c.495+2T>C;ENST00000453447:exon7:c.612+2T>C;ENST00000592156:exon2:c.43+2T>C;ENST00000383356:exon7:c.495+2T>C)	.	.	0.99340600729494	0.678
18	12506474	A	T	18	12506475	y	y	splicing	SPIRE1(NM_001128627:exon7:c.612+2T>A;NM_001128626:exon7:c.972+2T>A;NM_020148:exon7:c.972+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.972+2T>A;ENST00000410092:exon7:c.972+2T>A;ENST00000309836:exon6:c.381+2T>A;ENST00000440472:exon8:c.495+2T>A;ENST00000453447:exon7:c.612+2T>A;ENST00000592156:exon2:c.43+2T>A;ENST00000383356:exon7:c.495+2T>A)	.	.	0.999988247793601	0.928
18	12506475	C	A	18	12506476	y	y	splicing	SPIRE1(NM_001128627:exon7:c.612+1G>T;NM_001128626:exon7:c.972+1G>T;NM_020148:exon7:c.972+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.972+1G>T;ENST00000410092:exon7:c.972+1G>T;ENST00000309836:exon6:c.381+1G>T;ENST00000440472:exon8:c.495+1G>T;ENST00000453447:exon7:c.612+1G>T;ENST00000592156:exon2:c.43+1G>T;ENST00000383356:exon7:c.495+1G>T)	.	.	0.999985532734767	0.936
18	12506475	C	G	18	12506476	y	y	splicing	SPIRE1(NM_001128627:exon7:c.612+1G>C;NM_001128626:exon7:c.972+1G>C;NM_020148:exon7:c.972+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.972+1G>C;ENST00000410092:exon7:c.972+1G>C;ENST00000309836:exon6:c.381+1G>C;ENST00000440472:exon8:c.495+1G>C;ENST00000453447:exon7:c.612+1G>C;ENST00000592156:exon2:c.43+1G>C;ENST00000383356:exon7:c.495+1G>C)	.	.	0.999985532734767	0.936
18	12506475	C	T	18	12506476	y	y	splicing	SPIRE1(NM_001128627:exon7:c.612+1G>A;NM_001128626:exon7:c.972+1G>A;NM_020148:exon7:c.972+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.972+1G>A;ENST00000410092:exon7:c.972+1G>A;ENST00000309836:exon6:c.381+1G>A;ENST00000440472:exon8:c.495+1G>A;ENST00000453447:exon7:c.612+1G>A;ENST00000592156:exon2:c.43+1G>A;ENST00000383356:exon7:c.495+1G>A)	.	.	0.999985532734767	0.936
18	12506476	C	A	18	12506477	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.G612T:p.M204I;SPIRE1:NM_020148:exon6:c.G972T:p.M324I;SPIRE1:NM_001128626:exon6:c.G972T:p.M324I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.G972T:p.M324I;ENSG00000134278:ENST00000440472:exon7:c.G495T:p.M165I;ENSG00000134278:ENST00000383356:exon6:c.G495T:p.M165I;ENSG00000134278:ENST00000453447:exon6:c.G612T:p.M204I;ENSG00000134278:ENST00000410092:exon6:c.G972T:p.M324I;ENSG00000134278:ENST00000309836:exon5:c.G381T:p.M127I;	0.99968641440342	0.976
18	12506476	C	G	18	12506477	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.G612C:p.M204I;SPIRE1:NM_020148:exon6:c.G972C:p.M324I;SPIRE1:NM_001128626:exon6:c.G972C:p.M324I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.G972C:p.M324I;ENSG00000134278:ENST00000440472:exon7:c.G495C:p.M165I;ENSG00000134278:ENST00000383356:exon6:c.G495C:p.M165I;ENSG00000134278:ENST00000453447:exon6:c.G612C:p.M204I;ENSG00000134278:ENST00000410092:exon6:c.G972C:p.M324I;ENSG00000134278:ENST00000309836:exon5:c.G381C:p.M127I;	0.999820595773124	0.962
18	12506476	C	T	18	12506477	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.G612A:p.M204I;SPIRE1:NM_020148:exon6:c.G972A:p.M324I;SPIRE1:NM_001128626:exon6:c.G972A:p.M324I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.G972A:p.M324I;ENSG00000134278:ENST00000440472:exon7:c.G495A:p.M165I;ENSG00000134278:ENST00000383356:exon6:c.G495A:p.M165I;ENSG00000134278:ENST00000453447:exon6:c.G612A:p.M204I;ENSG00000134278:ENST00000410092:exon6:c.G972A:p.M324I;ENSG00000134278:ENST00000309836:exon5:c.G381A:p.M127I;	0.999767074803738	0.956
18	12506477	A	C	18	12506478	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.T611G:p.M204R;SPIRE1:NM_020148:exon6:c.T971G:p.M324R;SPIRE1:NM_001128626:exon6:c.T971G:p.M324R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.T971G:p.M324R;ENSG00000134278:ENST00000440472:exon7:c.T494G:p.M165R;ENSG00000134278:ENST00000383356:exon6:c.T494G:p.M165R;ENSG00000134278:ENST00000453447:exon6:c.T611G:p.M204R;ENSG00000134278:ENST00000410092:exon6:c.T971G:p.M324R;ENSG00000134278:ENST00000309836:exon5:c.T380G:p.M127R;	0.735161128147626	0.838
18	12506477	A	G	18	12506478	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.T611C:p.M204T;SPIRE1:NM_020148:exon6:c.T971C:p.M324T;SPIRE1:NM_001128626:exon6:c.T971C:p.M324T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.T971C:p.M324T;ENSG00000134278:ENST00000440472:exon7:c.T494C:p.M165T;ENSG00000134278:ENST00000383356:exon6:c.T494C:p.M165T;ENSG00000134278:ENST00000453447:exon6:c.T611C:p.M204T;ENSG00000134278:ENST00000410092:exon6:c.T971C:p.M324T;ENSG00000134278:ENST00000309836:exon5:c.T380C:p.M127T;	0.765692264760096	0.88
18	12506477	A	T	18	12506478	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.T611A:p.M204K;SPIRE1:NM_020148:exon6:c.T971A:p.M324K;SPIRE1:NM_001128626:exon6:c.T971A:p.M324K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.T971A:p.M324K;ENSG00000134278:ENST00000440472:exon7:c.T494A:p.M165K;ENSG00000134278:ENST00000383356:exon6:c.T494A:p.M165K;ENSG00000134278:ENST00000453447:exon6:c.T611A:p.M204K;ENSG00000134278:ENST00000410092:exon6:c.T971A:p.M324K;ENSG00000134278:ENST00000309836:exon5:c.T380A:p.M127K;	0.590727623269175	0.692
18	12506478	T	A	18	12506479	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.A610T:p.M204L;SPIRE1:NM_020148:exon6:c.A970T:p.M324L;SPIRE1:NM_001128626:exon6:c.A970T:p.M324L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.A970T:p.M324L;ENSG00000134278:ENST00000440472:exon7:c.A493T:p.M165L;ENSG00000134278:ENST00000383356:exon6:c.A493T:p.M165L;ENSG00000134278:ENST00000453447:exon6:c.A610T:p.M204L;ENSG00000134278:ENST00000410092:exon6:c.A970T:p.M324L;ENSG00000134278:ENST00000309836:exon5:c.A379T:p.M127L;	0.914561646292438	0.48
18	12506478	T	C	18	12506479	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.A610G:p.M204V;SPIRE1:NM_020148:exon6:c.A970G:p.M324V;SPIRE1:NM_001128626:exon6:c.A970G:p.M324V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.A970G:p.M324V;ENSG00000134278:ENST00000440472:exon7:c.A493G:p.M165V;ENSG00000134278:ENST00000383356:exon6:c.A493G:p.M165V;ENSG00000134278:ENST00000453447:exon6:c.A610G:p.M204V;ENSG00000134278:ENST00000410092:exon6:c.A970G:p.M324V;ENSG00000134278:ENST00000309836:exon5:c.A379G:p.M127V;	0.2441404807757	0.4
18	12506478	T	G	18	12506479	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.A610C:p.M204L;SPIRE1:NM_020148:exon6:c.A970C:p.M324L;SPIRE1:NM_001128626:exon6:c.A970C:p.M324L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.A970C:p.M324L;ENSG00000134278:ENST00000440472:exon7:c.A493C:p.M165L;ENSG00000134278:ENST00000383356:exon6:c.A493C:p.M165L;ENSG00000134278:ENST00000453447:exon6:c.A610C:p.M204L;ENSG00000134278:ENST00000410092:exon6:c.A970C:p.M324L;ENSG00000134278:ENST00000309836:exon5:c.A379C:p.M127L;	0.66326143681722	0.696
18	12506639	G	A	18	12506640	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.C449T:p.A150V;SPIRE1:NM_020148:exon6:c.C809T:p.A270V;SPIRE1:NM_001128626:exon6:c.C809T:p.A270V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.C809T:p.A270V;ENSG00000134278:ENST00000440472:exon7:c.C332T:p.A111V;ENSG00000134278:ENST00000383356:exon6:c.C332T:p.A111V;ENSG00000134278:ENST00000453447:exon6:c.C449T:p.A150V;ENSG00000134278:ENST00000410092:exon6:c.C809T:p.A270V;ENSG00000134278:ENST00000449797:exon6:c.C449T:p.A150V;ENSG00000134278:ENST00000309836:exon5:c.C218T:p.A73V;	0.983090569774748	0.882
18	12506639	G	C	18	12506640	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.C449G:p.A150G;SPIRE1:NM_020148:exon6:c.C809G:p.A270G;SPIRE1:NM_001128626:exon6:c.C809G:p.A270G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.C809G:p.A270G;ENSG00000134278:ENST00000440472:exon7:c.C332G:p.A111G;ENSG00000134278:ENST00000383356:exon6:c.C332G:p.A111G;ENSG00000134278:ENST00000453447:exon6:c.C449G:p.A150G;ENSG00000134278:ENST00000410092:exon6:c.C809G:p.A270G;ENSG00000134278:ENST00000449797:exon6:c.C449G:p.A150G;ENSG00000134278:ENST00000309836:exon5:c.C218G:p.A73G;	0.986687064662877	0.804
18	12506639	G	T	18	12506640	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.C449A:p.A150E;SPIRE1:NM_020148:exon6:c.C809A:p.A270E;SPIRE1:NM_001128626:exon6:c.C809A:p.A270E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.C809A:p.A270E;ENSG00000134278:ENST00000440472:exon7:c.C332A:p.A111E;ENSG00000134278:ENST00000383356:exon6:c.C332A:p.A111E;ENSG00000134278:ENST00000453447:exon6:c.C449A:p.A150E;ENSG00000134278:ENST00000410092:exon6:c.C809A:p.A270E;ENSG00000134278:ENST00000449797:exon6:c.C449A:p.A150E;ENSG00000134278:ENST00000309836:exon5:c.C218A:p.A73E;	0.995618830681449	0.856
18	12506640	C	A	18	12506641	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.G448T:p.A150S;SPIRE1:NM_020148:exon6:c.G808T:p.A270S;SPIRE1:NM_001128626:exon6:c.G808T:p.A270S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.G808T:p.A270S;ENSG00000134278:ENST00000440472:exon7:c.G331T:p.A111S;ENSG00000134278:ENST00000383356:exon6:c.G331T:p.A111S;ENSG00000134278:ENST00000453447:exon6:c.G448T:p.A150S;ENSG00000134278:ENST00000410092:exon6:c.G808T:p.A270S;ENSG00000134278:ENST00000449797:exon6:c.G448T:p.A150S;ENSG00000134278:ENST00000309836:exon5:c.G217T:p.A73S;	0.998925246296731	0.836
18	12506640	C	G	18	12506641	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.G448C:p.A150P;SPIRE1:NM_020148:exon6:c.G808C:p.A270P;SPIRE1:NM_001128626:exon6:c.G808C:p.A270P;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.G808C:p.A270P;ENSG00000134278:ENST00000440472:exon7:c.G331C:p.A111P;ENSG00000134278:ENST00000383356:exon6:c.G331C:p.A111P;ENSG00000134278:ENST00000453447:exon6:c.G448C:p.A150P;ENSG00000134278:ENST00000410092:exon6:c.G808C:p.A270P;ENSG00000134278:ENST00000449797:exon6:c.G448C:p.A150P;ENSG00000134278:ENST00000309836:exon5:c.G217C:p.A73P;	0.999127790553907	0.906
18	12506640	C	T	18	12506641	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon6:c.G448A:p.A150T;SPIRE1:NM_020148:exon6:c.G808A:p.A270T;SPIRE1:NM_001128626:exon6:c.G808A:p.A270T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon6:c.G808A:p.A270T;ENSG00000134278:ENST00000440472:exon7:c.G331A:p.A111T;ENSG00000134278:ENST00000383356:exon6:c.G331A:p.A111T;ENSG00000134278:ENST00000453447:exon6:c.G448A:p.A150T;ENSG00000134278:ENST00000410092:exon6:c.G808A:p.A270T;ENSG00000134278:ENST00000449797:exon6:c.G448A:p.A150T;ENSG00000134278:ENST00000309836:exon5:c.G217A:p.A73T;	0.998658895393385	0.826
18	12506641	C	A	18	12506642	y	y	splicing	SPIRE1(NM_001128627:exon7:c.448-1G>T;NM_001128626:exon7:c.808-1G>T;NM_020148:exon7:c.808-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.808-1G>T;ENST00000410092:exon7:c.808-1G>T;ENST00000309836:exon6:c.217-1G>T;ENST00000440472:exon8:c.331-1G>T;ENST00000453447:exon7:c.448-1G>T;ENST00000383356:exon7:c.331-1G>T;ENST00000449797:exon7:c.448-1G>T)	.	.	0.999990361384395	0.938
18	12506641	C	G	18	12506642	y	y	splicing	SPIRE1(NM_001128627:exon7:c.448-1G>C;NM_001128626:exon7:c.808-1G>C;NM_020148:exon7:c.808-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.808-1G>C;ENST00000410092:exon7:c.808-1G>C;ENST00000309836:exon6:c.217-1G>C;ENST00000440472:exon8:c.331-1G>C;ENST00000453447:exon7:c.448-1G>C;ENST00000383356:exon7:c.331-1G>C;ENST00000449797:exon7:c.448-1G>C)	.	.	0.999990361384395	0.938
18	12506641	C	T	18	12506642	y	y	splicing	SPIRE1(NM_001128627:exon7:c.448-1G>A;NM_001128626:exon7:c.808-1G>A;NM_020148:exon7:c.808-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.808-1G>A;ENST00000410092:exon7:c.808-1G>A;ENST00000309836:exon6:c.217-1G>A;ENST00000440472:exon8:c.331-1G>A;ENST00000453447:exon7:c.448-1G>A;ENST00000383356:exon7:c.331-1G>A;ENST00000449797:exon7:c.448-1G>A)	.	.	0.999990361384395	0.938
18	12506642	T	A	18	12506643	y	y	splicing	SPIRE1(NM_001128627:exon7:c.448-2A>T;NM_001128626:exon7:c.808-2A>T;NM_020148:exon7:c.808-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.808-2A>T;ENST00000410092:exon7:c.808-2A>T;ENST00000309836:exon6:c.217-2A>T;ENST00000440472:exon8:c.331-2A>T;ENST00000453447:exon7:c.448-2A>T;ENST00000383356:exon7:c.331-2A>T;ENST00000449797:exon7:c.448-2A>T)	.	.	0.999988247793601	0.93
18	12506642	T	C	18	12506643	y	y	splicing	SPIRE1(NM_001128627:exon7:c.448-2A>G;NM_001128626:exon7:c.808-2A>G;NM_020148:exon7:c.808-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.808-2A>G;ENST00000410092:exon7:c.808-2A>G;ENST00000309836:exon6:c.217-2A>G;ENST00000440472:exon8:c.331-2A>G;ENST00000453447:exon7:c.448-2A>G;ENST00000383356:exon7:c.331-2A>G;ENST00000449797:exon7:c.448-2A>G)	.	.	0.999988247793601	0.93
18	12506642	T	G	18	12506643	y	y	splicing	SPIRE1(NM_001128627:exon7:c.448-2A>C;NM_001128626:exon7:c.808-2A>C;NM_020148:exon7:c.808-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon7:c.808-2A>C;ENST00000410092:exon7:c.808-2A>C;ENST00000309836:exon6:c.217-2A>C;ENST00000440472:exon8:c.331-2A>C;ENST00000453447:exon7:c.448-2A>C;ENST00000383356:exon7:c.331-2A>C;ENST00000449797:exon7:c.448-2A>C)	.	.	0.999988247793601	0.93
18	12506643	G	A	18	12506644	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.7284345204479E-4	0.13
18	12506643	G	C	18	12506644	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999297565679022	0.824
18	12506643	G	T	18	12506644	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.15780200588324	0.362
18	12506644	A	C	18	12506645	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.71069422315932E-5	0.002
18	12506644	A	G	18	12506645	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.54064096376676E-5	0.0
18	12506644	A	T	18	12506645	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.99128597616505E-5	0.004
18	12506645	A	C	18	12506646	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.610161083558246	0.568
18	12506645	A	G	18	12506646	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.037447547822535	0.188
18	12506645	A	T	18	12506646	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.600915806456195	0.47
18	12506646	A	C	18	12506647	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.145727322302254	0.384
18	12506646	A	G	18	12506647	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.29716774505776E-5	0.002
18	12506646	A	T	18	12506647	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0386073648001544	0.322
18	12506647	G	A	18	12506648	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.57180525460458E-5	0.002
18	12506647	G	C	18	12506648	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.23718602780165E-4	0.012
18	12506647	G	T	18	12506648	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.64117988415649E-4	0.08
18	12506648	A	C	18	12506649	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.23117340178952E-4	0.28
18	12506648	A	G	18	12506649	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.0583940890554E-5	0.002
18	12506648	A	T	18	12506649	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0176457164094915	0.424
18	12506649	A	C	18	12506650	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.58370143710596E-4	0.066
18	12506649	A	G	18	12506650	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.41274674870025E-5	0.0
18	12506649	A	T	18	12506650	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.57771804365896E-4	0.046
18	12506650	C	A	18	12506651	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.65384719650273E-5	0.0
18	12506650	C	G	18	12506651	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.11599788285826E-6	0.014
18	12506650	C	T	18	12506651	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.29134042665575E-5	0.004
18	12506651	C	A	18	12506652	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.73011662627691E-5	0.002
18	12506651	C	G	18	12506652	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.43351188507548E-5	0.004
18	12506651	C	T	18	12506652	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.995560470171561	0.948
18	12506652	A	C	18	12506653	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0216147442441668	0.288
18	12506652	A	G	18	12506653	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.55657566480562E-4	0.036
18	12506652	A	T	18	12506653	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99828532008881	0.876
18	12512445	G	A	18	12512446	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.52793582977691E-4	0.022
18	12512445	G	C	18	12512446	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.00330650606671E-4	0.0
18	12512445	G	T	18	12512446	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.00330650606671E-4	0.002
18	12512446	C	A	18	12512447	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.84044845249584E-5	0.006
18	12512446	C	G	18	12512447	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.65573291024173E-4	0.004
18	12512446	C	T	18	12512447	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.65573291024173E-4	0.074
18	12512447	T	A	18	12512448	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.68888198031501E-5	0.0
18	12512447	T	C	18	12512448	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.03804596602415E-5	0.002
18	12512447	T	G	18	12512448	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.70810523362107E-4	0.034
18	12512448	C	A	18	12512449	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999689610622038	0.942
18	12512448	C	G	18	12512449	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999412032265059	0.932
18	12512448	C	T	18	12512449	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999917696581818	0.988
18	12512449	T	A	18	12512450	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998873814094756	0.926
18	12512449	T	C	18	12512450	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997855569019743	0.982
18	12512449	T	G	18	12512450	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998768674757985	0.938
18	12512450	T	A	18	12512451	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999097710219912	0.866
18	12512450	T	C	18	12512451	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0490615953591258	0.36
18	12512450	T	G	18	12512451	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999088217155933	0.892
18	12512451	A	C	18	12512452	y	y	splicing	SPIRE1(NM_001128627:exon6:c.447+2T>G;NM_001128626:exon6:c.807+2T>G;NM_020148:exon6:c.807+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.807+2T>G;ENST00000410092:exon6:c.807+2T>G;ENST00000309836:exon5:c.216+2T>G;ENST00000440472:exon7:c.330+2T>G;ENST00000453447:exon6:c.447+2T>G;ENST00000383356:exon6:c.330+2T>G;ENST00000449797:exon6:c.447+2T>G)	.	.	0.999988247793601	0.93
18	12512451	A	G	18	12512452	y	y	splicing	SPIRE1(NM_001128627:exon6:c.447+2T>C;NM_001128626:exon6:c.807+2T>C;NM_020148:exon6:c.807+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.807+2T>C;ENST00000410092:exon6:c.807+2T>C;ENST00000309836:exon5:c.216+2T>C;ENST00000440472:exon7:c.330+2T>C;ENST00000453447:exon6:c.447+2T>C;ENST00000383356:exon6:c.330+2T>C;ENST00000449797:exon6:c.447+2T>C)	.	.	0.99991522016916	0.888
18	12512451	A	T	18	12512452	y	y	splicing	SPIRE1(NM_001128627:exon6:c.447+2T>A;NM_001128626:exon6:c.807+2T>A;NM_020148:exon6:c.807+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.807+2T>A;ENST00000410092:exon6:c.807+2T>A;ENST00000309836:exon5:c.216+2T>A;ENST00000440472:exon7:c.330+2T>A;ENST00000453447:exon6:c.447+2T>A;ENST00000383356:exon6:c.330+2T>A;ENST00000449797:exon6:c.447+2T>A)	.	.	0.999988247793601	0.93
18	12512452	C	A	18	12512453	y	y	splicing	SPIRE1(NM_001128627:exon6:c.447+1G>T;NM_001128626:exon6:c.807+1G>T;NM_020148:exon6:c.807+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.807+1G>T;ENST00000410092:exon6:c.807+1G>T;ENST00000309836:exon5:c.216+1G>T;ENST00000440472:exon7:c.330+1G>T;ENST00000453447:exon6:c.447+1G>T;ENST00000383356:exon6:c.330+1G>T;ENST00000449797:exon6:c.447+1G>T)	.	.	0.999990361384395	0.938
18	12512452	C	G	18	12512453	y	y	splicing	SPIRE1(NM_001128627:exon6:c.447+1G>C;NM_001128626:exon6:c.807+1G>C;NM_020148:exon6:c.807+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.807+1G>C;ENST00000410092:exon6:c.807+1G>C;ENST00000309836:exon5:c.216+1G>C;ENST00000440472:exon7:c.330+1G>C;ENST00000453447:exon6:c.447+1G>C;ENST00000383356:exon6:c.330+1G>C;ENST00000449797:exon6:c.447+1G>C)	.	.	0.999990361384395	0.938
18	12512452	C	T	18	12512453	y	y	splicing	SPIRE1(NM_001128627:exon6:c.447+1G>A;NM_001128626:exon6:c.807+1G>A;NM_020148:exon6:c.807+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.807+1G>A;ENST00000410092:exon6:c.807+1G>A;ENST00000309836:exon5:c.216+1G>A;ENST00000440472:exon7:c.330+1G>A;ENST00000453447:exon6:c.447+1G>A;ENST00000383356:exon6:c.330+1G>A;ENST00000449797:exon6:c.447+1G>A)	.	.	0.999990361384395	0.938
18	12512453	C	A	18	12512454	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.G447T:p.W149C;SPIRE1:NM_020148:exon5:c.G807T:p.W269C;SPIRE1:NM_001128626:exon5:c.G807T:p.W269C;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.G807T:p.W269C;ENSG00000134278:ENST00000440472:exon6:c.G330T:p.W110C;ENSG00000134278:ENST00000383356:exon5:c.G330T:p.W110C;ENSG00000134278:ENST00000453447:exon5:c.G447T:p.W149C;ENSG00000134278:ENST00000410092:exon5:c.G807T:p.W269C;ENSG00000134278:ENST00000449797:exon5:c.G447T:p.W149C;ENSG00000134278:ENST00000309836:exon4:c.G216T:p.W72C;	0.99999550591832	1.0
18	12512453	C	G	18	12512454	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.G447C:p.W149C;SPIRE1:NM_020148:exon5:c.G807C:p.W269C;SPIRE1:NM_001128626:exon5:c.G807C:p.W269C;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.G807C:p.W269C;ENSG00000134278:ENST00000440472:exon6:c.G330C:p.W110C;ENSG00000134278:ENST00000383356:exon5:c.G330C:p.W110C;ENSG00000134278:ENST00000453447:exon5:c.G447C:p.W149C;ENSG00000134278:ENST00000410092:exon5:c.G807C:p.W269C;ENSG00000134278:ENST00000449797:exon5:c.G447C:p.W149C;ENSG00000134278:ENST00000309836:exon4:c.G216C:p.W72C;	0.999997790963263	0.982
18	12512453	C	T	18	12512454	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon5:c.G447A:p.W149X;SPIRE1:NM_020148:exon5:c.G807A:p.W269X;SPIRE1:NM_001128626:exon5:c.G807A:p.W269X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon5:c.G807A:p.W269X;ENSG00000134278:ENST00000440472:exon6:c.G330A:p.W110X;ENSG00000134278:ENST00000383356:exon5:c.G330A:p.W110X;ENSG00000134278:ENST00000453447:exon5:c.G447A:p.W149X;ENSG00000134278:ENST00000410092:exon5:c.G807A:p.W269X;ENSG00000134278:ENST00000449797:exon5:c.G447A:p.W149X;ENSG00000134278:ENST00000309836:exon4:c.G216A:p.W72X;	0.999994868013052	0.976
18	12512454	C	A	18	12512455	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.G446T:p.W149L;SPIRE1:NM_020148:exon5:c.G806T:p.W269L;SPIRE1:NM_001128626:exon5:c.G806T:p.W269L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.G806T:p.W269L;ENSG00000134278:ENST00000440472:exon6:c.G329T:p.W110L;ENSG00000134278:ENST00000383356:exon5:c.G329T:p.W110L;ENSG00000134278:ENST00000453447:exon5:c.G446T:p.W149L;ENSG00000134278:ENST00000410092:exon5:c.G806T:p.W269L;ENSG00000134278:ENST00000449797:exon5:c.G446T:p.W149L;ENSG00000134278:ENST00000309836:exon4:c.G215T:p.W72L;	0.992774165523053	0.91
18	12512454	C	G	18	12512455	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.G446C:p.W149S;SPIRE1:NM_020148:exon5:c.G806C:p.W269S;SPIRE1:NM_001128626:exon5:c.G806C:p.W269S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.G806C:p.W269S;ENSG00000134278:ENST00000440472:exon6:c.G329C:p.W110S;ENSG00000134278:ENST00000383356:exon5:c.G329C:p.W110S;ENSG00000134278:ENST00000453447:exon5:c.G446C:p.W149S;ENSG00000134278:ENST00000410092:exon5:c.G806C:p.W269S;ENSG00000134278:ENST00000449797:exon5:c.G446C:p.W149S;ENSG00000134278:ENST00000309836:exon4:c.G215C:p.W72S;	0.988936492077312	0.924
18	12512454	C	T	18	12512455	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon5:c.G446A:p.W149X;SPIRE1:NM_020148:exon5:c.G806A:p.W269X;SPIRE1:NM_001128626:exon5:c.G806A:p.W269X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon5:c.G806A:p.W269X;ENSG00000134278:ENST00000440472:exon6:c.G329A:p.W110X;ENSG00000134278:ENST00000383356:exon5:c.G329A:p.W110X;ENSG00000134278:ENST00000453447:exon5:c.G446A:p.W149X;ENSG00000134278:ENST00000410092:exon5:c.G806A:p.W269X;ENSG00000134278:ENST00000449797:exon5:c.G446A:p.W149X;ENSG00000134278:ENST00000309836:exon4:c.G215A:p.W72X;	0.978380249305597	0.718
18	12512455	A	C	18	12512456	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.T445G:p.W149G;SPIRE1:NM_020148:exon5:c.T805G:p.W269G;SPIRE1:NM_001128626:exon5:c.T805G:p.W269G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.T805G:p.W269G;ENSG00000134278:ENST00000440472:exon6:c.T328G:p.W110G;ENSG00000134278:ENST00000383356:exon5:c.T328G:p.W110G;ENSG00000134278:ENST00000453447:exon5:c.T445G:p.W149G;ENSG00000134278:ENST00000410092:exon5:c.T805G:p.W269G;ENSG00000134278:ENST00000449797:exon5:c.T445G:p.W149G;ENSG00000134278:ENST00000309836:exon4:c.T214G:p.W72G;	0.837712209050262	0.756
18	12512455	A	G	18	12512456	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.T445C:p.W149R;SPIRE1:NM_020148:exon5:c.T805C:p.W269R;SPIRE1:NM_001128626:exon5:c.T805C:p.W269R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.T805C:p.W269R;ENSG00000134278:ENST00000440472:exon6:c.T328C:p.W110R;ENSG00000134278:ENST00000383356:exon5:c.T328C:p.W110R;ENSG00000134278:ENST00000453447:exon5:c.T445C:p.W149R;ENSG00000134278:ENST00000410092:exon5:c.T805C:p.W269R;ENSG00000134278:ENST00000449797:exon5:c.T445C:p.W149R;ENSG00000134278:ENST00000309836:exon4:c.T214C:p.W72R;	0.655106261646342	0.716
18	12512455	A	T	18	12512456	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.T445A:p.W149R;SPIRE1:NM_020148:exon5:c.T805A:p.W269R;SPIRE1:NM_001128626:exon5:c.T805A:p.W269R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.T805A:p.W269R;ENSG00000134278:ENST00000440472:exon6:c.T328A:p.W110R;ENSG00000134278:ENST00000383356:exon5:c.T328A:p.W110R;ENSG00000134278:ENST00000453447:exon5:c.T445A:p.W149R;ENSG00000134278:ENST00000410092:exon5:c.T805A:p.W269R;ENSG00000134278:ENST00000449797:exon5:c.T445A:p.W149R;ENSG00000134278:ENST00000309836:exon4:c.T214A:p.W72R;	0.755428657889518	0.734
18	12512529	T	A	18	12512530	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.A371T:p.N124I;SPIRE1:NM_020148:exon5:c.A731T:p.N244I;SPIRE1:NM_001128626:exon5:c.A731T:p.N244I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.A731T:p.N244I;ENSG00000134278:ENST00000440472:exon6:c.A254T:p.N85I;ENSG00000134278:ENST00000383356:exon5:c.A254T:p.N85I;ENSG00000134278:ENST00000453447:exon5:c.A371T:p.N124I;ENSG00000134278:ENST00000497844:exon6:c.A425T:p.N142I;ENSG00000134278:ENST00000410092:exon5:c.A731T:p.N244I;ENSG00000134278:ENST00000449797:exon5:c.A371T:p.N124I;ENSG00000134278:ENST00000309836:exon4:c.A140T:p.N47I;	0.833959173456305	0.696
18	12512529	T	C	18	12512530	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.A371G:p.N124S;SPIRE1:NM_020148:exon5:c.A731G:p.N244S;SPIRE1:NM_001128626:exon5:c.A731G:p.N244S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.A731G:p.N244S;ENSG00000134278:ENST00000440472:exon6:c.A254G:p.N85S;ENSG00000134278:ENST00000383356:exon5:c.A254G:p.N85S;ENSG00000134278:ENST00000453447:exon5:c.A371G:p.N124S;ENSG00000134278:ENST00000497844:exon6:c.A425G:p.N142S;ENSG00000134278:ENST00000410092:exon5:c.A731G:p.N244S;ENSG00000134278:ENST00000449797:exon5:c.A371G:p.N124S;ENSG00000134278:ENST00000309836:exon4:c.A140G:p.N47S;	0.00159973720761693	0.03
18	12512529	T	G	18	12512530	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.A371C:p.N124T;SPIRE1:NM_020148:exon5:c.A731C:p.N244T;SPIRE1:NM_001128626:exon5:c.A731C:p.N244T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.A731C:p.N244T;ENSG00000134278:ENST00000440472:exon6:c.A254C:p.N85T;ENSG00000134278:ENST00000383356:exon5:c.A254C:p.N85T;ENSG00000134278:ENST00000453447:exon5:c.A371C:p.N124T;ENSG00000134278:ENST00000497844:exon6:c.A425C:p.N142T;ENSG00000134278:ENST00000410092:exon5:c.A731C:p.N244T;ENSG00000134278:ENST00000449797:exon5:c.A371C:p.N124T;ENSG00000134278:ENST00000309836:exon4:c.A140C:p.N47T;	0.00150400842036964	0.034
18	12512530	T	A	18	12512531	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.A370T:p.N124Y;SPIRE1:NM_020148:exon5:c.A730T:p.N244Y;SPIRE1:NM_001128626:exon5:c.A730T:p.N244Y;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.A730T:p.N244Y;ENSG00000134278:ENST00000440472:exon6:c.A253T:p.N85Y;ENSG00000134278:ENST00000383356:exon5:c.A253T:p.N85Y;ENSG00000134278:ENST00000453447:exon5:c.A370T:p.N124Y;ENSG00000134278:ENST00000497844:exon6:c.A424T:p.N142Y;ENSG00000134278:ENST00000410092:exon5:c.A730T:p.N244Y;ENSG00000134278:ENST00000449797:exon5:c.A370T:p.N124Y;ENSG00000134278:ENST00000309836:exon4:c.A139T:p.N47Y;	0.765772659715956	0.512
18	12512530	T	C	18	12512531	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.A370G:p.N124D;SPIRE1:NM_020148:exon5:c.A730G:p.N244D;SPIRE1:NM_001128626:exon5:c.A730G:p.N244D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.A730G:p.N244D;ENSG00000134278:ENST00000440472:exon6:c.A253G:p.N85D;ENSG00000134278:ENST00000383356:exon5:c.A253G:p.N85D;ENSG00000134278:ENST00000453447:exon5:c.A370G:p.N124D;ENSG00000134278:ENST00000497844:exon6:c.A424G:p.N142D;ENSG00000134278:ENST00000410092:exon5:c.A730G:p.N244D;ENSG00000134278:ENST00000449797:exon5:c.A370G:p.N124D;ENSG00000134278:ENST00000309836:exon4:c.A139G:p.N47D;	0.553331742707648	0.56
18	12512530	T	G	18	12512531	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon5:c.A370C:p.N124H;SPIRE1:NM_020148:exon5:c.A730C:p.N244H;SPIRE1:NM_001128626:exon5:c.A730C:p.N244H;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon5:c.A730C:p.N244H;ENSG00000134278:ENST00000440472:exon6:c.A253C:p.N85H;ENSG00000134278:ENST00000383356:exon5:c.A253C:p.N85H;ENSG00000134278:ENST00000453447:exon5:c.A370C:p.N124H;ENSG00000134278:ENST00000497844:exon6:c.A424C:p.N142H;ENSG00000134278:ENST00000410092:exon5:c.A730C:p.N244H;ENSG00000134278:ENST00000449797:exon5:c.A370C:p.N124H;ENSG00000134278:ENST00000309836:exon4:c.A139C:p.N47H;	0.804243958527693	0.57
18	12512531	C	A	18	12512532	y	y	splicing	SPIRE1(NM_001128627:exon6:c.370-1G>T;NM_001128626:exon6:c.730-1G>T;NM_020148:exon6:c.730-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.730-1G>T;ENST00000410092:exon6:c.730-1G>T;ENST00000309836:exon5:c.139-1G>T;ENST00000440472:exon7:c.253-1G>T;ENST00000453447:exon6:c.370-1G>T;ENST00000383356:exon6:c.253-1G>T;ENST00000449797:exon6:c.370-1G>T;ENST00000497844:exon7:c.424-1G>T)	.	.	0.999985532734767	0.936
18	12512531	C	G	18	12512532	y	y	splicing	SPIRE1(NM_001128627:exon6:c.370-1G>C;NM_001128626:exon6:c.730-1G>C;NM_020148:exon6:c.730-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.730-1G>C;ENST00000410092:exon6:c.730-1G>C;ENST00000309836:exon5:c.139-1G>C;ENST00000440472:exon7:c.253-1G>C;ENST00000453447:exon6:c.370-1G>C;ENST00000383356:exon6:c.253-1G>C;ENST00000449797:exon6:c.370-1G>C;ENST00000497844:exon7:c.424-1G>C)	.	.	0.999985532734767	0.936
18	12512531	C	T	18	12512532	y	y	splicing	SPIRE1(NM_001128627:exon6:c.370-1G>A;NM_001128626:exon6:c.730-1G>A;NM_020148:exon6:c.730-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.730-1G>A;ENST00000410092:exon6:c.730-1G>A;ENST00000309836:exon5:c.139-1G>A;ENST00000440472:exon7:c.253-1G>A;ENST00000453447:exon6:c.370-1G>A;ENST00000383356:exon6:c.253-1G>A;ENST00000449797:exon6:c.370-1G>A;ENST00000497844:exon7:c.424-1G>A)	.	.	0.999985532734767	0.936
18	12512532	T	A	18	12512533	y	y	splicing	SPIRE1(NM_001128627:exon6:c.370-2A>T;NM_001128626:exon6:c.730-2A>T;NM_020148:exon6:c.730-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.730-2A>T;ENST00000410092:exon6:c.730-2A>T;ENST00000309836:exon5:c.139-2A>T;ENST00000440472:exon7:c.253-2A>T;ENST00000453447:exon6:c.370-2A>T;ENST00000383356:exon6:c.253-2A>T;ENST00000449797:exon6:c.370-2A>T;ENST00000497844:exon7:c.424-2A>T)	.	.	0.999988247793601	0.928
18	12512532	T	C	18	12512533	y	y	splicing	SPIRE1(NM_001128627:exon6:c.370-2A>G;NM_001128626:exon6:c.730-2A>G;NM_020148:exon6:c.730-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.730-2A>G;ENST00000410092:exon6:c.730-2A>G;ENST00000309836:exon5:c.139-2A>G;ENST00000440472:exon7:c.253-2A>G;ENST00000453447:exon6:c.370-2A>G;ENST00000383356:exon6:c.253-2A>G;ENST00000449797:exon6:c.370-2A>G;ENST00000497844:exon7:c.424-2A>G)	.	.	0.999988247793601	0.926
18	12512532	T	G	18	12512533	y	y	splicing	SPIRE1(NM_001128627:exon6:c.370-2A>C;NM_001128626:exon6:c.730-2A>C;NM_020148:exon6:c.730-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon6:c.730-2A>C;ENST00000410092:exon6:c.730-2A>C;ENST00000309836:exon5:c.139-2A>C;ENST00000440472:exon7:c.253-2A>C;ENST00000453447:exon6:c.370-2A>C;ENST00000383356:exon6:c.253-2A>C;ENST00000449797:exon6:c.370-2A>C;ENST00000497844:exon7:c.424-2A>C)	.	.	0.999988247793601	0.926
18	12512533	A	C	18	12512534	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.994400982294445	0.704
18	12512533	A	G	18	12512534	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.40329880417627E-5	0.008
18	12512533	A	T	18	12512534	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.436577234829971	0.506
18	12512534	C	A	18	12512535	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.85810683529327E-5	0.0
18	12512534	C	G	18	12512535	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.33379877278075E-6	0.0
18	12512534	C	T	18	12512535	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.66736970862975E-5	0.004
18	12512535	A	C	18	12512536	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.862499066435181	0.596
18	12512535	A	G	18	12512536	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.89083379311694E-4	0.112
18	12512535	A	T	18	12512536	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997927612681938	0.93
18	12512536	G	A	18	12512537	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.96718172077587E-5	0.016
18	12512536	G	C	18	12512537	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00128401123390058	0.222
18	12512536	G	T	18	12512537	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00162247979142838	0.214
18	12512537	G	A	18	12512538	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.27545606407506E-4	0.004
18	12512537	G	C	18	12512538	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999884342012761	0.974
18	12512537	G	T	18	12512538	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00109522869182904	0.096
18	12512538	T	A	18	12512539	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.56337943428072E-4	0.012
18	12512538	T	C	18	12512539	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998533670052487	0.992
18	12512538	T	G	18	12512539	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.25965716026824E-4	0.006
18	12512539	T	A	18	12512540	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.28170998666124E-4	0.036
18	12512539	T	C	18	12512540	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0016068140211016	0.018
18	12512539	T	G	18	12512540	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.22740533271089E-4	0.0
18	12512540	A	C	18	12512541	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.011108724180107	0.316
18	12512540	A	G	18	12512541	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00319192740546819	0.208
18	12512540	A	T	18	12512541	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0120222491985717	0.346
18	12512541	A	C	18	12512542	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.993689761882306	0.844
18	12512541	A	G	18	12512542	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.726099156474601	0.494
18	12512541	A	T	18	12512542	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.99897254761309	0.928
18	12512542	A	C	18	12512543	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997091789777646	0.834
18	12512542	A	G	18	12512543	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.187148024352629	0.332
18	12512542	A	T	18	12512543	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.998857634034074	0.842
18	12535467	G	A	18	12535468	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.30870955723717E-4	0.0
18	12535467	G	C	18	12535468	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.30870955723717E-4	0.006
18	12535467	G	T	18	12535468	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.30870955723717E-4	0.0
18	12535468	T	A	18	12535469	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.44597856737646E-5	0.002
18	12535468	T	C	18	12535469	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.63473099009442E-5	0.002
18	12535468	T	G	18	12535469	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.63473099009442E-5	0.008
18	12535469	A	C	18	12535470	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00179716000156569	0.092
18	12535469	A	G	18	12535470	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00922569169860107	0.084
18	12535469	A	T	18	12535470	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0413051924515975	0.296
18	12535470	C	A	18	12535471	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999480634971627	0.86
18	12535470	C	G	18	12535471	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999313757107887	0.882
18	12535470	C	T	18	12535471	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999571183467336	0.9
18	12535471	T	A	18	12535472	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.485793124761432	0.478
18	12535471	T	C	18	12535472	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.659276338933137	0.398
18	12535471	T	G	18	12535472	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0833238022578175	0.264
18	12535472	C	A	18	12535473	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00577140612358429	0.158
18	12535472	C	G	18	12535473	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00188135046527341	0.11
18	12535472	C	T	18	12535473	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.77671007757395E-5	0.0
18	12535473	A	C	18	12535474	y	y	splicing	SPIRE1(NM_001128627:exon5:c.369+2T>G;NM_001128626:exon5:c.729+2T>G;NM_020148:exon5:c.729+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.729+2T>G;ENST00000410092:exon5:c.729+2T>G;ENST00000309836:exon4:c.138+2T>G;ENST00000440472:exon6:c.252+2T>G;ENST00000453447:exon5:c.369+2T>G;ENST00000383356:exon5:c.252+2T>G;ENST00000449797:exon5:c.369+2T>G;ENST00000497844:exon6:c.423+2T>G)	.	.	0.999988247793601	0.932
18	12535473	A	G	18	12535474	y	y	splicing	SPIRE1(NM_001128627:exon5:c.369+2T>C;NM_001128626:exon5:c.729+2T>C;NM_020148:exon5:c.729+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.729+2T>C;ENST00000410092:exon5:c.729+2T>C;ENST00000309836:exon4:c.138+2T>C;ENST00000440472:exon6:c.252+2T>C;ENST00000453447:exon5:c.369+2T>C;ENST00000383356:exon5:c.252+2T>C;ENST00000449797:exon5:c.369+2T>C;ENST00000497844:exon6:c.423+2T>C)	.	.	0.99991520749976	0.86
18	12535473	A	T	18	12535474	y	y	splicing	SPIRE1(NM_001128627:exon5:c.369+2T>A;NM_001128626:exon5:c.729+2T>A;NM_020148:exon5:c.729+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.729+2T>A;ENST00000410092:exon5:c.729+2T>A;ENST00000309836:exon4:c.138+2T>A;ENST00000440472:exon6:c.252+2T>A;ENST00000453447:exon5:c.369+2T>A;ENST00000383356:exon5:c.252+2T>A;ENST00000449797:exon5:c.369+2T>A;ENST00000497844:exon6:c.423+2T>A)	.	.	0.999988247793601	0.932
18	12535474	C	A	18	12535475	y	y	splicing	SPIRE1(NM_001128627:exon5:c.369+1G>T;NM_001128626:exon5:c.729+1G>T;NM_020148:exon5:c.729+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.729+1G>T;ENST00000410092:exon5:c.729+1G>T;ENST00000309836:exon4:c.138+1G>T;ENST00000440472:exon6:c.252+1G>T;ENST00000453447:exon5:c.369+1G>T;ENST00000383356:exon5:c.252+1G>T;ENST00000449797:exon5:c.369+1G>T;ENST00000497844:exon6:c.423+1G>T)	.	.	0.999989072007339	0.934
18	12535474	C	G	18	12535475	y	y	splicing	SPIRE1(NM_001128627:exon5:c.369+1G>C;NM_001128626:exon5:c.729+1G>C;NM_020148:exon5:c.729+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.729+1G>C;ENST00000410092:exon5:c.729+1G>C;ENST00000309836:exon4:c.138+1G>C;ENST00000440472:exon6:c.252+1G>C;ENST00000453447:exon5:c.369+1G>C;ENST00000383356:exon5:c.252+1G>C;ENST00000449797:exon5:c.369+1G>C;ENST00000497844:exon6:c.423+1G>C)	.	.	0.999989072007339	0.934
18	12535474	C	T	18	12535475	y	y	splicing	SPIRE1(NM_001128627:exon5:c.369+1G>A;NM_001128626:exon5:c.729+1G>A;NM_020148:exon5:c.729+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.729+1G>A;ENST00000410092:exon5:c.729+1G>A;ENST00000309836:exon4:c.138+1G>A;ENST00000440472:exon6:c.252+1G>A;ENST00000453447:exon5:c.369+1G>A;ENST00000383356:exon5:c.252+1G>A;ENST00000449797:exon5:c.369+1G>A;ENST00000497844:exon6:c.423+1G>A)	.	.	0.999989072007339	0.934
18	12535475	C	A	18	12535476	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.G369T:p.E123D;SPIRE1:NM_020148:exon4:c.G729T:p.E243D;SPIRE1:NM_001128626:exon4:c.G729T:p.E243D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.G729T:p.E243D;ENSG00000134278:ENST00000440472:exon5:c.G252T:p.E84D;ENSG00000134278:ENST00000383356:exon4:c.G252T:p.E84D;ENSG00000134278:ENST00000453447:exon4:c.G369T:p.E123D;ENSG00000134278:ENST00000497844:exon5:c.G423T:p.E141D;ENSG00000134278:ENST00000410092:exon4:c.G729T:p.E243D;ENSG00000134278:ENST00000449797:exon4:c.G369T:p.E123D;ENSG00000134278:ENST00000309836:exon3:c.G138T:p.E46D;	0.999481876439561	0.988
18	12535475	C	G	18	12535476	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.G369C:p.E123D;SPIRE1:NM_020148:exon4:c.G729C:p.E243D;SPIRE1:NM_001128626:exon4:c.G729C:p.E243D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.G729C:p.E243D;ENSG00000134278:ENST00000440472:exon5:c.G252C:p.E84D;ENSG00000134278:ENST00000383356:exon4:c.G252C:p.E84D;ENSG00000134278:ENST00000453447:exon4:c.G369C:p.E123D;ENSG00000134278:ENST00000497844:exon5:c.G423C:p.E141D;ENSG00000134278:ENST00000410092:exon4:c.G729C:p.E243D;ENSG00000134278:ENST00000449797:exon4:c.G369C:p.E123D;ENSG00000134278:ENST00000309836:exon3:c.G138C:p.E46D;	0.996698322740499	0.914
18	12535475	C	T	18	12535476	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon4:c.G369A:p.E123E;SPIRE1:NM_020148:exon4:c.G729A:p.E243E;SPIRE1:NM_001128626:exon4:c.G729A:p.E243E;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.G729A:p.E243E;ENSG00000134278:ENST00000440472:exon5:c.G252A:p.E84E;ENSG00000134278:ENST00000383356:exon4:c.G252A:p.E84E;ENSG00000134278:ENST00000453447:exon4:c.G369A:p.E123E;ENSG00000134278:ENST00000497844:exon5:c.G423A:p.E141E;ENSG00000134278:ENST00000410092:exon4:c.G729A:p.E243E;ENSG00000134278:ENST00000449797:exon4:c.G369A:p.E123E;ENSG00000134278:ENST00000309836:exon3:c.G138A:p.E46E;	0.918000725093515	0.726
18	12535476	T	A	18	12535477	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.A368T:p.E123V;SPIRE1:NM_020148:exon4:c.A728T:p.E243V;SPIRE1:NM_001128626:exon4:c.A728T:p.E243V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.A728T:p.E243V;ENSG00000134278:ENST00000440472:exon5:c.A251T:p.E84V;ENSG00000134278:ENST00000383356:exon4:c.A251T:p.E84V;ENSG00000134278:ENST00000453447:exon4:c.A368T:p.E123V;ENSG00000134278:ENST00000497844:exon5:c.A422T:p.E141V;ENSG00000134278:ENST00000410092:exon4:c.A728T:p.E243V;ENSG00000134278:ENST00000449797:exon4:c.A368T:p.E123V;ENSG00000134278:ENST00000309836:exon3:c.A137T:p.E46V;	0.981633408619406	0.586
18	12535476	T	C	18	12535477	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.A368G:p.E123G;SPIRE1:NM_020148:exon4:c.A728G:p.E243G;SPIRE1:NM_001128626:exon4:c.A728G:p.E243G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.A728G:p.E243G;ENSG00000134278:ENST00000440472:exon5:c.A251G:p.E84G;ENSG00000134278:ENST00000383356:exon4:c.A251G:p.E84G;ENSG00000134278:ENST00000453447:exon4:c.A368G:p.E123G;ENSG00000134278:ENST00000497844:exon5:c.A422G:p.E141G;ENSG00000134278:ENST00000410092:exon4:c.A728G:p.E243G;ENSG00000134278:ENST00000449797:exon4:c.A368G:p.E123G;ENSG00000134278:ENST00000309836:exon3:c.A137G:p.E46G;	0.992339945676416	0.872
18	12535476	T	G	18	12535477	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.A368C:p.E123A;SPIRE1:NM_020148:exon4:c.A728C:p.E243A;SPIRE1:NM_001128626:exon4:c.A728C:p.E243A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.A728C:p.E243A;ENSG00000134278:ENST00000440472:exon5:c.A251C:p.E84A;ENSG00000134278:ENST00000383356:exon4:c.A251C:p.E84A;ENSG00000134278:ENST00000453447:exon4:c.A368C:p.E123A;ENSG00000134278:ENST00000497844:exon5:c.A422C:p.E141A;ENSG00000134278:ENST00000410092:exon4:c.A728C:p.E243A;ENSG00000134278:ENST00000449797:exon4:c.A368C:p.E123A;ENSG00000134278:ENST00000309836:exon3:c.A137C:p.E46A;	0.988366614330057	0.796
18	12535477	C	A	18	12535478	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon4:c.G367T:p.E123X;SPIRE1:NM_020148:exon4:c.G727T:p.E243X;SPIRE1:NM_001128626:exon4:c.G727T:p.E243X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon4:c.G727T:p.E243X;ENSG00000134278:ENST00000440472:exon5:c.G250T:p.E84X;ENSG00000134278:ENST00000383356:exon4:c.G250T:p.E84X;ENSG00000134278:ENST00000453447:exon4:c.G367T:p.E123X;ENSG00000134278:ENST00000497844:exon5:c.G421T:p.E141X;ENSG00000134278:ENST00000410092:exon4:c.G727T:p.E243X;ENSG00000134278:ENST00000449797:exon4:c.G367T:p.E123X;ENSG00000134278:ENST00000309836:exon3:c.G136T:p.E46X;	0.988058327568188	0.884
18	12535477	C	G	18	12535478	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.G367C:p.E123Q;SPIRE1:NM_020148:exon4:c.G727C:p.E243Q;SPIRE1:NM_001128626:exon4:c.G727C:p.E243Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.G727C:p.E243Q;ENSG00000134278:ENST00000440472:exon5:c.G250C:p.E84Q;ENSG00000134278:ENST00000383356:exon4:c.G250C:p.E84Q;ENSG00000134278:ENST00000453447:exon4:c.G367C:p.E123Q;ENSG00000134278:ENST00000497844:exon5:c.G421C:p.E141Q;ENSG00000134278:ENST00000410092:exon4:c.G727C:p.E243Q;ENSG00000134278:ENST00000449797:exon4:c.G367C:p.E123Q;ENSG00000134278:ENST00000309836:exon3:c.G136C:p.E46Q;	0.952479913451685	0.762
18	12535477	C	T	18	12535478	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.G367A:p.E123K;SPIRE1:NM_020148:exon4:c.G727A:p.E243K;SPIRE1:NM_001128626:exon4:c.G727A:p.E243K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.G727A:p.E243K;ENSG00000134278:ENST00000440472:exon5:c.G250A:p.E84K;ENSG00000134278:ENST00000383356:exon4:c.G250A:p.E84K;ENSG00000134278:ENST00000453447:exon4:c.G367A:p.E123K;ENSG00000134278:ENST00000497844:exon5:c.G421A:p.E141K;ENSG00000134278:ENST00000410092:exon4:c.G727A:p.E243K;ENSG00000134278:ENST00000449797:exon4:c.G367A:p.E123K;ENSG00000134278:ENST00000309836:exon3:c.G136A:p.E46K;	0.965876788483062	0.832
18	12535599	A	C	18	12535600	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.T245G:p.L82W;SPIRE1:NM_020148:exon4:c.T605G:p.L202W;SPIRE1:NM_001128626:exon4:c.T605G:p.L202W;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.T605G:p.L202W;ENSG00000134278:ENST00000440472:exon5:c.T128G:p.L43W;ENSG00000134278:ENST00000383356:exon4:c.T128G:p.L43W;ENSG00000134278:ENST00000453447:exon4:c.T245G:p.L82W;ENSG00000134278:ENST00000497844:exon5:c.T299G:p.L100W;ENSG00000134278:ENST00000462226:exon4:c.T245G:p.L82W;ENSG00000134278:ENST00000410092:exon4:c.T605G:p.L202W;ENSG00000134278:ENST00000449797:exon4:c.T245G:p.L82W;ENSG00000134278:ENST00000309836:exon3:c.T14G:p.L5W;	0.149242181920184	0.514
18	12535599	A	G	18	12535600	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.T245C:p.L82S;SPIRE1:NM_020148:exon4:c.T605C:p.L202S;SPIRE1:NM_001128626:exon4:c.T605C:p.L202S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.T605C:p.L202S;ENSG00000134278:ENST00000440472:exon5:c.T128C:p.L43S;ENSG00000134278:ENST00000383356:exon4:c.T128C:p.L43S;ENSG00000134278:ENST00000453447:exon4:c.T245C:p.L82S;ENSG00000134278:ENST00000497844:exon5:c.T299C:p.L100S;ENSG00000134278:ENST00000462226:exon4:c.T245C:p.L82S;ENSG00000134278:ENST00000410092:exon4:c.T605C:p.L202S;ENSG00000134278:ENST00000449797:exon4:c.T245C:p.L82S;ENSG00000134278:ENST00000309836:exon3:c.T14C:p.L5S;	0.149242181920184	0.512
18	12535599	A	T	18	12535600	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon4:c.T245A:p.L82X;SPIRE1:NM_020148:exon4:c.T605A:p.L202X;SPIRE1:NM_001128626:exon4:c.T605A:p.L202X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon4:c.T605A:p.L202X;ENSG00000134278:ENST00000440472:exon5:c.T128A:p.L43X;ENSG00000134278:ENST00000383356:exon4:c.T128A:p.L43X;ENSG00000134278:ENST00000453447:exon4:c.T245A:p.L82X;ENSG00000134278:ENST00000497844:exon5:c.T299A:p.L100X;ENSG00000134278:ENST00000462226:exon4:c.T245A:p.L82X;ENSG00000134278:ENST00000410092:exon4:c.T605A:p.L202X;ENSG00000134278:ENST00000449797:exon4:c.T245A:p.L82X;ENSG00000134278:ENST00000309836:exon3:c.T14A:p.L5X;	0.249012297234075	0.572
18	12535600	A	C	18	12535601	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.T244G:p.L82V;SPIRE1:NM_020148:exon4:c.T604G:p.L202V;SPIRE1:NM_001128626:exon4:c.T604G:p.L202V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.T604G:p.L202V;ENSG00000134278:ENST00000440472:exon5:c.T127G:p.L43V;ENSG00000134278:ENST00000383356:exon4:c.T127G:p.L43V;ENSG00000134278:ENST00000453447:exon4:c.T244G:p.L82V;ENSG00000134278:ENST00000497844:exon5:c.T298G:p.L100V;ENSG00000134278:ENST00000462226:exon4:c.T244G:p.L82V;ENSG00000134278:ENST00000410092:exon4:c.T604G:p.L202V;ENSG00000134278:ENST00000449797:exon4:c.T244G:p.L82V;ENSG00000134278:ENST00000309836:exon3:c.T13G:p.L5V;	5.55524928239583E-4	0.28
18	12535600	A	G	18	12535601	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon4:c.T244C:p.L82L;SPIRE1:NM_020148:exon4:c.T604C:p.L202L;SPIRE1:NM_001128626:exon4:c.T604C:p.L202L;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.T604C:p.L202L;ENSG00000134278:ENST00000440472:exon5:c.T127C:p.L43L;ENSG00000134278:ENST00000383356:exon4:c.T127C:p.L43L;ENSG00000134278:ENST00000453447:exon4:c.T244C:p.L82L;ENSG00000134278:ENST00000497844:exon5:c.T298C:p.L100L;ENSG00000134278:ENST00000462226:exon4:c.T244C:p.L82L;ENSG00000134278:ENST00000410092:exon4:c.T604C:p.L202L;ENSG00000134278:ENST00000449797:exon4:c.T244C:p.L82L;ENSG00000134278:ENST00000309836:exon3:c.T13C:p.L5L;	8.40085224639023E-5	0.012
18	12535600	A	T	18	12535601	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon4:c.T244A:p.L82M;SPIRE1:NM_020148:exon4:c.T604A:p.L202M;SPIRE1:NM_001128626:exon4:c.T604A:p.L202M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon4:c.T604A:p.L202M;ENSG00000134278:ENST00000440472:exon5:c.T127A:p.L43M;ENSG00000134278:ENST00000383356:exon4:c.T127A:p.L43M;ENSG00000134278:ENST00000453447:exon4:c.T244A:p.L82M;ENSG00000134278:ENST00000497844:exon5:c.T298A:p.L100M;ENSG00000134278:ENST00000462226:exon4:c.T244A:p.L82M;ENSG00000134278:ENST00000410092:exon4:c.T604A:p.L202M;ENSG00000134278:ENST00000449797:exon4:c.T244A:p.L82M;ENSG00000134278:ENST00000309836:exon3:c.T13A:p.L5M;	1.05681275359127E-4	0.168
18	12535601	C	A	18	12535602	y	y	splicing	SPIRE1(NM_001128627:exon5:c.244-1G>T;NM_001128626:exon5:c.604-1G>T;NM_020148:exon5:c.604-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.604-1G>T;ENST00000410092:exon5:c.604-1G>T;ENST00000309836:exon4:c.13-1G>T;ENST00000440472:exon6:c.127-1G>T;ENST00000453447:exon5:c.244-1G>T;ENST00000383356:exon5:c.127-1G>T;ENST00000449797:exon5:c.244-1G>T;ENST00000497844:exon6:c.298-1G>T;ENST00000462226:exon5:c.244-1G>T)	.	.	0.999989072007339	0.934
18	12535601	C	G	18	12535602	y	y	splicing	SPIRE1(NM_001128627:exon5:c.244-1G>C;NM_001128626:exon5:c.604-1G>C;NM_020148:exon5:c.604-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.604-1G>C;ENST00000410092:exon5:c.604-1G>C;ENST00000309836:exon4:c.13-1G>C;ENST00000440472:exon6:c.127-1G>C;ENST00000453447:exon5:c.244-1G>C;ENST00000383356:exon5:c.127-1G>C;ENST00000449797:exon5:c.244-1G>C;ENST00000497844:exon6:c.298-1G>C;ENST00000462226:exon5:c.244-1G>C)	.	.	0.999989072007339	0.934
18	12535601	C	T	18	12535602	y	y	splicing	SPIRE1(NM_001128627:exon5:c.244-1G>A;NM_001128626:exon5:c.604-1G>A;NM_020148:exon5:c.604-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.604-1G>A;ENST00000410092:exon5:c.604-1G>A;ENST00000309836:exon4:c.13-1G>A;ENST00000440472:exon6:c.127-1G>A;ENST00000453447:exon5:c.244-1G>A;ENST00000383356:exon5:c.127-1G>A;ENST00000449797:exon5:c.244-1G>A;ENST00000497844:exon6:c.298-1G>A;ENST00000462226:exon5:c.244-1G>A)	.	.	0.999989072007339	0.934
18	12535602	T	A	18	12535603	y	y	splicing	SPIRE1(NM_001128627:exon5:c.244-2A>T;NM_001128626:exon5:c.604-2A>T;NM_020148:exon5:c.604-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.604-2A>T;ENST00000410092:exon5:c.604-2A>T;ENST00000309836:exon4:c.13-2A>T;ENST00000440472:exon6:c.127-2A>T;ENST00000453447:exon5:c.244-2A>T;ENST00000383356:exon5:c.127-2A>T;ENST00000449797:exon5:c.244-2A>T;ENST00000497844:exon6:c.298-2A>T;ENST00000462226:exon5:c.244-2A>T)	.	.	0.999988247793601	0.93
18	12535602	T	C	18	12535603	y	y	splicing	SPIRE1(NM_001128627:exon5:c.244-2A>G;NM_001128626:exon5:c.604-2A>G;NM_020148:exon5:c.604-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.604-2A>G;ENST00000410092:exon5:c.604-2A>G;ENST00000309836:exon4:c.13-2A>G;ENST00000440472:exon6:c.127-2A>G;ENST00000453447:exon5:c.244-2A>G;ENST00000383356:exon5:c.127-2A>G;ENST00000449797:exon5:c.244-2A>G;ENST00000497844:exon6:c.298-2A>G;ENST00000462226:exon5:c.244-2A>G)	.	.	0.999988247793601	0.928
18	12535602	T	G	18	12535603	y	y	splicing	SPIRE1(NM_001128627:exon5:c.244-2A>C;NM_001128626:exon5:c.604-2A>C;NM_020148:exon5:c.604-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon5:c.604-2A>C;ENST00000410092:exon5:c.604-2A>C;ENST00000309836:exon4:c.13-2A>C;ENST00000440472:exon6:c.127-2A>C;ENST00000453447:exon5:c.244-2A>C;ENST00000383356:exon5:c.127-2A>C;ENST00000449797:exon5:c.244-2A>C;ENST00000497844:exon6:c.298-2A>C;ENST00000462226:exon5:c.244-2A>C)	.	.	0.999988247793601	0.928
18	12535603	A	C	18	12535604	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.995156018496422	0.654
18	12535603	A	G	18	12535604	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.17564693965405E-5	0.002
18	12535603	A	T	18	12535604	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0322077232229157	0.262
18	12535604	T	A	18	12535605	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.39147291740127E-5	0.0
18	12535604	T	C	18	12535605	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.99230049420779E-5	0.0
18	12535604	T	G	18	12535605	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.16843375901132E-5	0.0
18	12535605	A	C	18	12535606	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0172750562032796	0.276
18	12535605	A	G	18	12535606	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00120767699028339	0.074
18	12535605	A	T	18	12535606	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00895836286663132	0.238
18	12535606	G	A	18	12535607	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.67761193074384E-5	0.01
18	12535606	G	C	18	12535607	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.4906389545989E-4	0.098
18	12535606	G	T	18	12535607	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.4906389545989E-4	0.088
18	12535607	A	C	18	12535608	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.0473763376697E-4	0.028
18	12535607	A	G	18	12535608	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.52994170725556E-5	0.0
18	12535607	A	T	18	12535608	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.02077153663557E-4	0.032
18	12535608	A	C	18	12535609	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.00718728906157E-5	0.074
18	12535608	A	G	18	12535609	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.47714643794089E-5	0.018
18	12535608	A	T	18	12535609	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.5699138291974E-4	0.072
18	12535609	G	A	18	12535610	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.29466599534024E-5	0.002
18	12535609	G	C	18	12535610	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.55710305010578E-5	0.018
18	12535609	G	T	18	12535610	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.07220106985459E-5	0.012
18	12535610	G	A	18	12535611	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.18726485707593E-5	0.004
18	12535610	G	C	18	12535611	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.77932187783808E-4	0.026
18	12535610	G	T	18	12535611	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.63084180929469E-5	0.026
18	12535611	G	A	18	12535612	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.01243025682001E-5	0.0
18	12535611	G	C	18	12535612	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.55075558849182E-5	0.008
18	12535611	G	T	18	12535612	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.78832839374426E-4	0.026
18	12535612	G	A	18	12535613	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.70396450037498E-5	0.0
18	12535612	G	C	18	12535613	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.76856596854083E-5	0.036
18	12535612	G	T	18	12535613	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.43343984971847E-4	0.018
18	12546665	T	A	18	12546666	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.19523722086209E-5	0.0
18	12546665	T	C	18	12546666	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.19523722086209E-5	0.002
18	12546665	T	G	18	12546666	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.19523722086209E-5	0.006
18	12546666	G	A	18	12546667	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.07016094304005E-4	0.0
18	12546666	G	C	18	12546667	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.07016094304005E-4	0.0
18	12546666	G	T	18	12546667	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.27237026149931E-5	0.0
18	12546667	C	A	18	12546668	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.40607260078702E-5	0.0
18	12546667	C	G	18	12546668	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.11249510306978E-4	0.0
18	12546667	C	T	18	12546668	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.12033515578458E-4	0.0
18	12546668	C	A	18	12546669	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.306804248565777	0.442
18	12546668	C	G	18	12546669	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.271880723728843	0.56
18	12546668	C	T	18	12546669	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.506012608150862	0.544
18	12546669	T	A	18	12546670	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0973235436704487	0.256
18	12546669	T	C	18	12546670	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.479206493818131	0.352
18	12546669	T	G	18	12546670	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.129696145695127	0.274
18	12546670	T	A	18	12546671	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.900830753173918	0.522
18	12546670	T	C	18	12546671	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00182774678823714	0.062
18	12546670	T	G	18	12546671	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.987653140828778	0.614
18	12546671	A	C	18	12546672	y	y	splicing	SPIRE1(NM_001128627:exon4:c.243+2T>G;NM_001128626:exon4:c.603+2T>G;NM_020148:exon4:c.603+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.603+2T>G;ENST00000410092:exon4:c.603+2T>G;ENST00000440472:exon5:c.126+2T>G;ENST00000453447:exon4:c.243+2T>G;ENST00000383356:exon4:c.126+2T>G;ENST00000449797:exon4:c.243+2T>G;ENST00000497844:exon5:c.297+2T>G;ENST00000462226:exon4:c.243+2T>G)	.	.	0.999981808176352	0.916
18	12546671	A	G	18	12546672	y	y	splicing	SPIRE1(NM_001128627:exon4:c.243+2T>C;NM_001128626:exon4:c.603+2T>C;NM_020148:exon4:c.603+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.603+2T>C;ENST00000410092:exon4:c.603+2T>C;ENST00000440472:exon5:c.126+2T>C;ENST00000453447:exon4:c.243+2T>C;ENST00000383356:exon4:c.126+2T>C;ENST00000449797:exon4:c.243+2T>C;ENST00000497844:exon5:c.297+2T>C;ENST00000462226:exon4:c.243+2T>C)	.	.	0.98098470520779	0.552
18	12546671	A	T	18	12546672	y	y	splicing	SPIRE1(NM_001128627:exon4:c.243+2T>A;NM_001128626:exon4:c.603+2T>A;NM_020148:exon4:c.603+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.603+2T>A;ENST00000410092:exon4:c.603+2T>A;ENST00000440472:exon5:c.126+2T>A;ENST00000453447:exon4:c.243+2T>A;ENST00000383356:exon4:c.126+2T>A;ENST00000449797:exon4:c.243+2T>A;ENST00000497844:exon5:c.297+2T>A;ENST00000462226:exon4:c.243+2T>A)	.	.	0.999981808176352	0.916
18	12546672	C	A	18	12546673	y	y	splicing	SPIRE1(NM_001128627:exon4:c.243+1G>T;NM_001128626:exon4:c.603+1G>T;NM_020148:exon4:c.603+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.603+1G>T;ENST00000410092:exon4:c.603+1G>T;ENST00000440472:exon5:c.126+1G>T;ENST00000453447:exon4:c.243+1G>T;ENST00000383356:exon4:c.126+1G>T;ENST00000449797:exon4:c.243+1G>T;ENST00000497844:exon5:c.297+1G>T;ENST00000462226:exon4:c.243+1G>T)	.	.	0.999989072007339	0.934
18	12546672	C	G	18	12546673	y	y	splicing	SPIRE1(NM_001128627:exon4:c.243+1G>C;NM_001128626:exon4:c.603+1G>C;NM_020148:exon4:c.603+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.603+1G>C;ENST00000410092:exon4:c.603+1G>C;ENST00000440472:exon5:c.126+1G>C;ENST00000453447:exon4:c.243+1G>C;ENST00000383356:exon4:c.126+1G>C;ENST00000449797:exon4:c.243+1G>C;ENST00000497844:exon5:c.297+1G>C;ENST00000462226:exon4:c.243+1G>C)	.	.	0.999989072007339	0.934
18	12546672	C	T	18	12546673	y	y	splicing	SPIRE1(NM_001128627:exon4:c.243+1G>A;NM_001128626:exon4:c.603+1G>A;NM_020148:exon4:c.603+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.603+1G>A;ENST00000410092:exon4:c.603+1G>A;ENST00000440472:exon5:c.126+1G>A;ENST00000453447:exon4:c.243+1G>A;ENST00000383356:exon4:c.126+1G>A;ENST00000449797:exon4:c.243+1G>A;ENST00000497844:exon5:c.297+1G>A;ENST00000462226:exon4:c.243+1G>A)	.	.	0.999989072007339	0.934
18	12546673	C	A	18	12546674	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.G243T:p.K81N;SPIRE1:NM_020148:exon3:c.G603T:p.K201N;SPIRE1:NM_001128626:exon3:c.G603T:p.K201N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.G603T:p.K201N;ENSG00000134278:ENST00000440472:exon4:c.G126T:p.K42N;ENSG00000134278:ENST00000383356:exon3:c.G126T:p.K42N;ENSG00000134278:ENST00000453447:exon3:c.G243T:p.K81N;ENSG00000134278:ENST00000497844:exon4:c.G297T:p.K99N;ENSG00000134278:ENST00000462226:exon3:c.G243T:p.K81N;ENSG00000134278:ENST00000410092:exon3:c.G603T:p.K201N;ENSG00000134278:ENST00000449797:exon3:c.G243T:p.K81N;	0.999134999128448	0.934
18	12546673	C	G	18	12546674	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.G243C:p.K81N;SPIRE1:NM_020148:exon3:c.G603C:p.K201N;SPIRE1:NM_001128626:exon3:c.G603C:p.K201N;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.G603C:p.K201N;ENSG00000134278:ENST00000440472:exon4:c.G126C:p.K42N;ENSG00000134278:ENST00000383356:exon3:c.G126C:p.K42N;ENSG00000134278:ENST00000453447:exon3:c.G243C:p.K81N;ENSG00000134278:ENST00000497844:exon4:c.G297C:p.K99N;ENSG00000134278:ENST00000462226:exon3:c.G243C:p.K81N;ENSG00000134278:ENST00000410092:exon3:c.G603C:p.K201N;ENSG00000134278:ENST00000449797:exon3:c.G243C:p.K81N;	0.999936954082062	0.934
18	12546673	C	T	18	12546674	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon3:c.G243A:p.K81K;SPIRE1:NM_020148:exon3:c.G603A:p.K201K;SPIRE1:NM_001128626:exon3:c.G603A:p.K201K;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.G603A:p.K201K;ENSG00000134278:ENST00000440472:exon4:c.G126A:p.K42K;ENSG00000134278:ENST00000383356:exon3:c.G126A:p.K42K;ENSG00000134278:ENST00000453447:exon3:c.G243A:p.K81K;ENSG00000134278:ENST00000497844:exon4:c.G297A:p.K99K;ENSG00000134278:ENST00000462226:exon3:c.G243A:p.K81K;ENSG00000134278:ENST00000410092:exon3:c.G603A:p.K201K;ENSG00000134278:ENST00000449797:exon3:c.G243A:p.K81K;	0.999665573547467	0.98
18	12546674	T	A	18	12546675	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.A242T:p.K81M;SPIRE1:NM_020148:exon3:c.A602T:p.K201M;SPIRE1:NM_001128626:exon3:c.A602T:p.K201M;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.A602T:p.K201M;ENSG00000134278:ENST00000440472:exon4:c.A125T:p.K42M;ENSG00000134278:ENST00000383356:exon3:c.A125T:p.K42M;ENSG00000134278:ENST00000453447:exon3:c.A242T:p.K81M;ENSG00000134278:ENST00000497844:exon4:c.A296T:p.K99M;ENSG00000134278:ENST00000462226:exon3:c.A242T:p.K81M;ENSG00000134278:ENST00000410092:exon3:c.A602T:p.K201M;ENSG00000134278:ENST00000449797:exon3:c.A242T:p.K81M;	0.972633787394636	0.606
18	12546674	T	C	18	12546675	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.A242G:p.K81R;SPIRE1:NM_020148:exon3:c.A602G:p.K201R;SPIRE1:NM_001128626:exon3:c.A602G:p.K201R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.A602G:p.K201R;ENSG00000134278:ENST00000440472:exon4:c.A125G:p.K42R;ENSG00000134278:ENST00000383356:exon3:c.A125G:p.K42R;ENSG00000134278:ENST00000453447:exon3:c.A242G:p.K81R;ENSG00000134278:ENST00000497844:exon4:c.A296G:p.K99R;ENSG00000134278:ENST00000462226:exon3:c.A242G:p.K81R;ENSG00000134278:ENST00000410092:exon3:c.A602G:p.K201R;ENSG00000134278:ENST00000449797:exon3:c.A242G:p.K81R;	0.552454409966332	0.416
18	12546674	T	G	18	12546675	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.A242C:p.K81T;SPIRE1:NM_020148:exon3:c.A602C:p.K201T;SPIRE1:NM_001128626:exon3:c.A602C:p.K201T;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.A602C:p.K201T;ENSG00000134278:ENST00000440472:exon4:c.A125C:p.K42T;ENSG00000134278:ENST00000383356:exon3:c.A125C:p.K42T;ENSG00000134278:ENST00000453447:exon3:c.A242C:p.K81T;ENSG00000134278:ENST00000497844:exon4:c.A296C:p.K99T;ENSG00000134278:ENST00000462226:exon3:c.A242C:p.K81T;ENSG00000134278:ENST00000410092:exon3:c.A602C:p.K201T;ENSG00000134278:ENST00000449797:exon3:c.A242C:p.K81T;	0.960804385703732	0.756
18	12546675	T	A	18	12546676	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon3:c.A241T:p.K81X;SPIRE1:NM_020148:exon3:c.A601T:p.K201X;SPIRE1:NM_001128626:exon3:c.A601T:p.K201X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon3:c.A601T:p.K201X;ENSG00000134278:ENST00000440472:exon4:c.A124T:p.K42X;ENSG00000134278:ENST00000383356:exon3:c.A124T:p.K42X;ENSG00000134278:ENST00000453447:exon3:c.A241T:p.K81X;ENSG00000134278:ENST00000497844:exon4:c.A295T:p.K99X;ENSG00000134278:ENST00000462226:exon3:c.A241T:p.K81X;ENSG00000134278:ENST00000410092:exon3:c.A601T:p.K201X;ENSG00000134278:ENST00000449797:exon3:c.A241T:p.K81X;	0.104050189857053	0.356
18	12546675	T	C	18	12546676	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.A241G:p.K81E;SPIRE1:NM_020148:exon3:c.A601G:p.K201E;SPIRE1:NM_001128626:exon3:c.A601G:p.K201E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.A601G:p.K201E;ENSG00000134278:ENST00000440472:exon4:c.A124G:p.K42E;ENSG00000134278:ENST00000383356:exon3:c.A124G:p.K42E;ENSG00000134278:ENST00000453447:exon3:c.A241G:p.K81E;ENSG00000134278:ENST00000497844:exon4:c.A295G:p.K99E;ENSG00000134278:ENST00000462226:exon3:c.A241G:p.K81E;ENSG00000134278:ENST00000410092:exon3:c.A601G:p.K201E;ENSG00000134278:ENST00000449797:exon3:c.A241G:p.K81E;	0.0022953072190624	0.018
18	12546675	T	G	18	12546676	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.A241C:p.K81Q;SPIRE1:NM_020148:exon3:c.A601C:p.K201Q;SPIRE1:NM_001128626:exon3:c.A601C:p.K201Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.A601C:p.K201Q;ENSG00000134278:ENST00000440472:exon4:c.A124C:p.K42Q;ENSG00000134278:ENST00000383356:exon3:c.A124C:p.K42Q;ENSG00000134278:ENST00000453447:exon3:c.A241C:p.K81Q;ENSG00000134278:ENST00000497844:exon4:c.A295C:p.K99Q;ENSG00000134278:ENST00000462226:exon3:c.A241C:p.K81Q;ENSG00000134278:ENST00000410092:exon3:c.A601C:p.K201Q;ENSG00000134278:ENST00000449797:exon3:c.A241C:p.K81Q;	2.32669430827134E-4	0.004
18	12546902	A	C	18	12546903	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.T14G:p.V5G;SPIRE1:NM_020148:exon3:c.T374G:p.V125G;SPIRE1:NM_001128626:exon3:c.T374G:p.V125G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.T374G:p.V125G;ENSG00000134278:ENST00000453447:exon3:c.T14G:p.V5G;ENSG00000134278:ENST00000497844:exon4:c.T68G:p.V23G;ENSG00000134278:ENST00000462226:exon3:c.T14G:p.V5G;ENSG00000134278:ENST00000410092:exon3:c.T374G:p.V125G;ENSG00000134278:ENST00000449797:exon3:c.T14G:p.V5G;	0.0303853378062079	0.158
18	12546902	A	G	18	12546903	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.T14C:p.V5A;SPIRE1:NM_020148:exon3:c.T374C:p.V125A;SPIRE1:NM_001128626:exon3:c.T374C:p.V125A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.T374C:p.V125A;ENSG00000134278:ENST00000453447:exon3:c.T14C:p.V5A;ENSG00000134278:ENST00000497844:exon4:c.T68C:p.V23A;ENSG00000134278:ENST00000462226:exon3:c.T14C:p.V5A;ENSG00000134278:ENST00000410092:exon3:c.T374C:p.V125A;ENSG00000134278:ENST00000449797:exon3:c.T14C:p.V5A;	0.0108730419158119	0.17
18	12546902	A	T	18	12546903	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.T14A:p.V5D;SPIRE1:NM_020148:exon3:c.T374A:p.V125D;SPIRE1:NM_001128626:exon3:c.T374A:p.V125D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.T374A:p.V125D;ENSG00000134278:ENST00000453447:exon3:c.T14A:p.V5D;ENSG00000134278:ENST00000497844:exon4:c.T68A:p.V23D;ENSG00000134278:ENST00000462226:exon3:c.T14A:p.V5D;ENSG00000134278:ENST00000410092:exon3:c.T374A:p.V125D;ENSG00000134278:ENST00000449797:exon3:c.T14A:p.V5D;	0.0313130321884852	0.15
18	12546903	C	A	18	12546904	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.G13T:p.V5F;SPIRE1:NM_020148:exon3:c.G373T:p.V125F;SPIRE1:NM_001128626:exon3:c.G373T:p.V125F;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.G373T:p.V125F;ENSG00000134278:ENST00000453447:exon3:c.G13T:p.V5F;ENSG00000134278:ENST00000497844:exon4:c.G67T:p.V23F;ENSG00000134278:ENST00000462226:exon3:c.G13T:p.V5F;ENSG00000134278:ENST00000410092:exon3:c.G373T:p.V125F;ENSG00000134278:ENST00000449797:exon3:c.G13T:p.V5F;	0.999401407972594	0.978
18	12546903	C	G	18	12546904	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.G13C:p.V5L;SPIRE1:NM_020148:exon3:c.G373C:p.V125L;SPIRE1:NM_001128626:exon3:c.G373C:p.V125L;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.G373C:p.V125L;ENSG00000134278:ENST00000453447:exon3:c.G13C:p.V5L;ENSG00000134278:ENST00000497844:exon4:c.G67C:p.V23L;ENSG00000134278:ENST00000462226:exon3:c.G13C:p.V5L;ENSG00000134278:ENST00000410092:exon3:c.G373C:p.V125L;ENSG00000134278:ENST00000449797:exon3:c.G13C:p.V5L;	0.602092004049833	0.608
18	12546903	C	T	18	12546904	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon3:c.G13A:p.V5I;SPIRE1:NM_020148:exon3:c.G373A:p.V125I;SPIRE1:NM_001128626:exon3:c.G373A:p.V125I;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon3:c.G373A:p.V125I;ENSG00000134278:ENST00000453447:exon3:c.G13A:p.V5I;ENSG00000134278:ENST00000497844:exon4:c.G67A:p.V23I;ENSG00000134278:ENST00000462226:exon3:c.G13A:p.V5I;ENSG00000134278:ENST00000410092:exon3:c.G373A:p.V125I;ENSG00000134278:ENST00000449797:exon3:c.G13A:p.V5I;	0.221404724490694	0.344
18	12546904	C	A	18	12546905	y	y	splicing	SPIRE1(NM_001128627:exon4:c.13-1G>T;NM_001128626:exon4:c.373-1G>T;NM_020148:exon4:c.373-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.373-1G>T;ENST00000410092:exon4:c.373-1G>T;ENST00000453447:exon4:c.13-1G>T;ENST00000449797:exon4:c.13-1G>T;ENST00000497844:exon5:c.67-1G>T;ENST00000462226:exon4:c.13-1G>T)	.	.	0.999938422912956	0.91
18	12546904	C	G	18	12546905	y	y	splicing	SPIRE1(NM_001128627:exon4:c.13-1G>C;NM_001128626:exon4:c.373-1G>C;NM_020148:exon4:c.373-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.373-1G>C;ENST00000410092:exon4:c.373-1G>C;ENST00000453447:exon4:c.13-1G>C;ENST00000449797:exon4:c.13-1G>C;ENST00000497844:exon5:c.67-1G>C;ENST00000462226:exon4:c.13-1G>C)	.	.	0.999938422912956	0.918
18	12546904	C	T	18	12546905	y	y	splicing	SPIRE1(NM_001128627:exon4:c.13-1G>A;NM_001128626:exon4:c.373-1G>A;NM_020148:exon4:c.373-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.373-1G>A;ENST00000410092:exon4:c.373-1G>A;ENST00000453447:exon4:c.13-1G>A;ENST00000449797:exon4:c.13-1G>A;ENST00000497844:exon5:c.67-1G>A;ENST00000462226:exon4:c.13-1G>A)	.	.	0.999938422912956	0.916
18	12546905	T	A	18	12546906	y	y	splicing	SPIRE1(NM_001128627:exon4:c.13-2A>T;NM_001128626:exon4:c.373-2A>T;NM_020148:exon4:c.373-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.373-2A>T;ENST00000410092:exon4:c.373-2A>T;ENST00000453447:exon4:c.13-2A>T;ENST00000449797:exon4:c.13-2A>T;ENST00000497844:exon5:c.67-2A>T;ENST00000462226:exon4:c.13-2A>T)	.	.	0.99992617752697	0.928
18	12546905	T	C	18	12546906	y	y	splicing	SPIRE1(NM_001128627:exon4:c.13-2A>G;NM_001128626:exon4:c.373-2A>G;NM_020148:exon4:c.373-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.373-2A>G;ENST00000410092:exon4:c.373-2A>G;ENST00000453447:exon4:c.13-2A>G;ENST00000449797:exon4:c.13-2A>G;ENST00000497844:exon5:c.67-2A>G;ENST00000462226:exon4:c.13-2A>G)	.	.	0.999938221968836	0.898
18	12546905	T	G	18	12546906	y	y	splicing	SPIRE1(NM_001128627:exon4:c.13-2A>C;NM_001128626:exon4:c.373-2A>C;NM_020148:exon4:c.373-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon4:c.373-2A>C;ENST00000410092:exon4:c.373-2A>C;ENST00000453447:exon4:c.13-2A>C;ENST00000449797:exon4:c.13-2A>C;ENST00000497844:exon5:c.67-2A>C;ENST00000462226:exon4:c.13-2A>C)	.	.	0.999938221968836	0.898
18	12546906	A	C	18	12546907	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.975842324345816	0.698
18	12546906	A	G	18	12546907	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.67299557867453E-5	0.008
18	12546906	A	T	18	12546907	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00439388644350271	0.292
18	12546907	G	A	18	12546908	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.44875773601426E-5	0.0
18	12546907	G	C	18	12546908	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.5485910851357E-4	0.026
18	12546907	G	T	18	12546908	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.64864280540511E-5	0.002
18	12546908	G	A	18	12546909	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.22712816426536E-5	0.002
18	12546908	G	C	18	12546909	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.97633019338557E-4	0.15
18	12546908	G	T	18	12546909	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.06154294471429E-4	0.128
18	12546909	A	C	18	12546910	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00967133906294251	0.498
18	12546909	A	G	18	12546910	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.69236075617273E-5	0.094
18	12546909	A	T	18	12546910	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00955431135626421	0.498
18	12546910	A	C	18	12546911	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00229940229806964	0.196
18	12546910	A	G	18	12546911	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.89203739936519E-4	0.096
18	12546910	A	T	18	12546911	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00351498876829154	0.194
18	12546911	C	A	18	12546912	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.37827265532689E-5	0.042
18	12546911	C	G	18	12546912	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.78457390163457E-5	0.02
18	12546911	C	T	18	12546912	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.33354034139377E-4	0.062
18	12546912	A	C	18	12546913	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999886880723648	0.95
18	12546912	A	G	18	12546913	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.59543203702959E-4	0.048
18	12546912	A	T	18	12546913	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999886880723648	0.948
18	12546913	T	A	18	12546914	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.67944982512943E-5	0.0
18	12546913	T	C	18	12546914	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.414235792278742	0.458
18	12546913	T	G	18	12546914	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.58645906776164E-5	0.0
18	12546914	T	A	18	12546915	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.88037835455108E-4	0.138
18	12546914	T	C	18	12546915	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997969847845129	0.976
18	12546914	T	G	18	12546915	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.66332998171307E-5	0.0
18	12546915	T	A	18	12546916	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.23418027127759E-5	0.0
18	12546915	T	C	18	12546916	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.07154666308908E-5	0.024
18	12546915	T	G	18	12546916	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.07724905891974E-5	0.0
18	12588367	C	A	18	12588368	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.65194182432092E-5	0.034
18	12588367	C	G	18	12588368	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.65194182432092E-5	0.034
18	12588367	C	T	18	12588368	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.65194182432092E-5	0.034
18	12588368	T	A	18	12588369	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.49910570311912E-5	0.044
18	12588368	T	C	18	12588369	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.49910570311912E-5	0.044
18	12588368	T	G	18	12588369	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.49910570311912E-5	0.044
18	12588369	A	C	18	12588370	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.61205237472919E-5	0.002
18	12588369	A	G	18	12588370	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.61205237472919E-5	0.002
18	12588369	A	T	18	12588370	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.61205237472919E-5	0.0
18	12588370	C	A	18	12588371	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.72465373027066E-5	0.05
18	12588370	C	G	18	12588371	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.25032471406063E-5	0.066
18	12588370	C	T	18	12588371	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.72465373027066E-5	0.044
18	12588371	T	A	18	12588372	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.07
18	12588371	T	C	18	12588372	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.066
18	12588371	T	G	18	12588372	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.066
18	12588372	T	A	18	12588373	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.62850261126439E-6	0.0
18	12588372	T	C	18	12588373	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39471642151905E-5	0.0
18	12588372	T	G	18	12588373	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39471642151905E-5	0.0
18	12588373	A	C	18	12588374	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.12096536907536E-5	0.0
18	12588373	A	G	18	12588374	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.12096536907536E-5	0.0
18	12588373	A	T	18	12588374	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.12096536907536E-5	0.0
18	12588374	C	A	18	12588375	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.03163144981675E-5	0.002
18	12588374	C	G	18	12588375	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.03163144981675E-5	0.002
18	12588374	C	T	18	12588375	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.03163144981675E-5	0.012
18	12588375	A	C	18	12588376	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.03163144981675E-5	0.034
18	12588375	A	G	18	12588376	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.03163144981675E-5	0.034
18	12588375	A	T	18	12588376	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.13105871323179E-5	0.034
18	12588376	G	A	18	12588377	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	1.96060615236321E-5	0.044
18	12588376	G	C	18	12588377	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.68341719139415E-5	0.05
18	12588376	G	T	18	12588377	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	1.96060615236321E-5	0.044
18	12588377	T	A	18	12588378	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	1.61205237472919E-5	0.0
18	12588377	T	C	18	12588378	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	1.61205237472919E-5	0.0
18	12588377	T	G	18	12588378	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	1.61205237472919E-5	0.0
18	12588417	G	A	18	12588418	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	1.20695034961553E-5	0.002
18	12588417	G	C	18	12588418	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	1.20695034961553E-5	0.028
18	12588417	G	T	18	12588418	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	1.20695034961553E-5	0.028
18	12588418	G	A	18	12588419	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.32964398316374E-5	0.002
18	12588418	G	C	18	12588419	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.32964398316374E-5	0.002
18	12588418	G	T	18	12588419	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.32964398316374E-5	0.002
18	12588419	C	A	18	12588420	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.05746745428764E-5	0.004
18	12588419	C	G	18	12588420	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.05746745428764E-5	0.004
18	12588419	C	T	18	12588420	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.05746745428764E-5	0.004
18	12588420	T	A	18	12588421	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	5.35717535886112E-5	0.008
18	12588420	T	C	18	12588421	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	3.46825821944466E-5	0.004
18	12588420	T	G	18	12588421	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	3.46825821944466E-5	0.004
18	12588421	G	A	18	12588422	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.30504366202256E-5	0.046
18	12588421	G	C	18	12588422	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.91262270487419E-5	0.068
18	12588421	G	T	18	12588422	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.30504366202256E-5	0.052
18	12588422	T	A	18	12588423	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.75258639471037E-5	0.01
18	12588422	T	C	18	12588423	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.75258639471037E-5	0.01
18	12588422	T	G	18	12588423	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.75258639471037E-5	0.01
18	12588423	C	A	18	12588424	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39502748842236E-5	0.03
18	12588423	C	G	18	12588424	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39502748842236E-5	0.038
18	12588423	C	T	18	12588424	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39502748842236E-5	0.03
18	12588424	A	C	18	12588425	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.05
18	12588424	A	G	18	12588425	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.05
18	12588424	A	T	18	12588425	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.07
18	12588425	A	C	18	12588426	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.69496022197718E-5	0.016
18	12588425	A	G	18	12588426	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.69496022197718E-5	0.016
18	12588425	A	T	18	12588426	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.69496022197718E-5	0.018
18	12588426	A	C	18	12588427	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.066
18	12588426	A	G	18	12588427	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.066
18	12588426	A	T	18	12588427	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.51589443294673E-5	0.066
18	12588427	A	C	18	12588428	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.16742623748823E-5	0.0
18	12588427	A	G	18	12588428	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.16742623748823E-5	0.0
18	12588427	A	T	18	12588428	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.14469246767614E-5	0.0
18	12588428	T	A	18	12588429	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.04243866858565E-5	0.004
18	12588428	T	C	18	12588429	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.61707993540616E-5	0.0
18	12588428	T	G	18	12588429	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.61707993540616E-5	0.0
18	12588429	A	C	18	12588430	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.26424982550682E-5	0.0
18	12588429	A	G	18	12588430	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.26424982550682E-5	0.0
18	12588429	A	T	18	12588430	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.26424982550682E-5	0.0
18	12588430	T	A	18	12588431	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.22319008290309E-5	0.0
18	12588430	T	C	18	12588431	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.22319008290309E-5	0.0
18	12588430	T	G	18	12588431	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.22319008290309E-5	0.0
18	12635053	T	A	18	12635054	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00435466241603455	0.032
18	12635053	T	C	18	12635054	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00294682849973155	0.048
18	12635053	T	G	18	12635054	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00294682849973155	0.06
18	12635054	C	A	18	12635055	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.39529611572298E-5	0.0
18	12635054	C	G	18	12635055	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.39529611572298E-5	0.0
18	12635054	C	T	18	12635055	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.87995666562217E-5	0.0
18	12635055	A	C	18	12635056	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.02106758558952E-4	0.072
18	12635055	A	G	18	12635056	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00766312282002843	0.082
18	12635055	A	T	18	12635056	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00287983282909737	0.12
18	12635056	C	A	18	12635057	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.951909533781238	0.656
18	12635056	C	G	18	12635057	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.928890806567214	0.634
18	12635056	C	T	18	12635057	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.969433006998543	0.758
18	12635057	T	A	18	12635058	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.688650776965329	0.448
18	12635057	T	C	18	12635058	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.927886047299579	0.522
18	12635057	T	G	18	12635058	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.926764639767713	0.58
18	12635058	T	A	18	12635059	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.962222803860513	0.708
18	12635058	T	C	18	12635059	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.116386993315391	0.162
18	12635058	T	G	18	12635059	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.933159784658151	0.75
18	12635059	A	C	18	12635060	y	y	splicing	SPIRE1(NM_001128627:exon3:c.12+2T>G;NM_001128626:exon3:c.372+2T>G;NM_020148:exon3:c.372+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.372+2T>G;ENST00000410092:exon3:c.372+2T>G;ENST00000309836:exon3:c.12+2T>G;ENST00000453447:exon3:c.12+2T>G;ENST00000449797:exon3:c.12+2T>G;ENST00000497844:exon4:c.66+2T>G;ENST00000462226:exon3:c.12+2T>G)	.	.	0.999978791067592	0.944
18	12635059	A	G	18	12635060	y	y	splicing	SPIRE1(NM_001128627:exon3:c.12+2T>C;NM_001128626:exon3:c.372+2T>C;NM_020148:exon3:c.372+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.372+2T>C;ENST00000410092:exon3:c.372+2T>C;ENST00000309836:exon3:c.12+2T>C;ENST00000453447:exon3:c.12+2T>C;ENST00000449797:exon3:c.12+2T>C;ENST00000497844:exon4:c.66+2T>C;ENST00000462226:exon3:c.12+2T>C)	.	.	0.941738773539276	0.608
18	12635059	A	T	18	12635060	y	y	splicing	SPIRE1(NM_001128627:exon3:c.12+2T>A;NM_001128626:exon3:c.372+2T>A;NM_020148:exon3:c.372+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.372+2T>A;ENST00000410092:exon3:c.372+2T>A;ENST00000309836:exon3:c.12+2T>A;ENST00000453447:exon3:c.12+2T>A;ENST00000449797:exon3:c.12+2T>A;ENST00000497844:exon4:c.66+2T>A;ENST00000462226:exon3:c.12+2T>A)	.	.	0.999978791067592	0.938
18	12635060	C	A	18	12635061	y	y	splicing	SPIRE1(NM_001128627:exon3:c.12+1G>T;NM_001128626:exon3:c.372+1G>T;NM_020148:exon3:c.372+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.372+1G>T;ENST00000410092:exon3:c.372+1G>T;ENST00000309836:exon3:c.12+1G>T;ENST00000453447:exon3:c.12+1G>T;ENST00000449797:exon3:c.12+1G>T;ENST00000497844:exon4:c.66+1G>T;ENST00000462226:exon3:c.12+1G>T)	.	.	0.99994568797423	0.938
18	12635060	C	G	18	12635061	y	y	splicing	SPIRE1(NM_001128627:exon3:c.12+1G>C;NM_001128626:exon3:c.372+1G>C;NM_020148:exon3:c.372+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.372+1G>C;ENST00000410092:exon3:c.372+1G>C;ENST00000309836:exon3:c.12+1G>C;ENST00000453447:exon3:c.12+1G>C;ENST00000449797:exon3:c.12+1G>C;ENST00000497844:exon4:c.66+1G>C;ENST00000462226:exon3:c.12+1G>C)	.	.	0.99994568797423	0.944
18	12635060	C	T	18	12635061	y	y	splicing	SPIRE1(NM_001128627:exon3:c.12+1G>A;NM_001128626:exon3:c.372+1G>A;NM_020148:exon3:c.372+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.372+1G>A;ENST00000410092:exon3:c.372+1G>A;ENST00000309836:exon3:c.12+1G>A;ENST00000453447:exon3:c.12+1G>A;ENST00000449797:exon3:c.12+1G>A;ENST00000497844:exon4:c.66+1G>A;ENST00000462226:exon3:c.12+1G>A)	.	.	0.99994568797423	0.938
18	12635061	C	A	18	12635062	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon2:c.G12T:p.E4D;SPIRE1:NM_020148:exon2:c.G372T:p.E124D;SPIRE1:NM_001128626:exon2:c.G372T:p.E124D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.G372T:p.E124D;ENSG00000134278:ENST00000453447:exon2:c.G12T:p.E4D;ENSG00000134278:ENST00000497844:exon3:c.G66T:p.E22D;ENSG00000134278:ENST00000462226:exon2:c.G12T:p.E4D;ENSG00000134278:ENST00000410092:exon2:c.G372T:p.E124D;ENSG00000134278:ENST00000449797:exon2:c.G12T:p.E4D;ENSG00000134278:ENST00000309836:exon2:c.G12T:p.E4D;	0.942968158887818	0.628
18	12635061	C	G	18	12635062	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon2:c.G12C:p.E4D;SPIRE1:NM_020148:exon2:c.G372C:p.E124D;SPIRE1:NM_001128626:exon2:c.G372C:p.E124D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.G372C:p.E124D;ENSG00000134278:ENST00000453447:exon2:c.G12C:p.E4D;ENSG00000134278:ENST00000497844:exon3:c.G66C:p.E22D;ENSG00000134278:ENST00000462226:exon2:c.G12C:p.E4D;ENSG00000134278:ENST00000410092:exon2:c.G372C:p.E124D;ENSG00000134278:ENST00000449797:exon2:c.G12C:p.E4D;ENSG00000134278:ENST00000309836:exon2:c.G12C:p.E4D;	0.950002189165463	0.648
18	12635061	C	T	18	12635062	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_001128627:exon2:c.G12A:p.E4E;SPIRE1:NM_020148:exon2:c.G372A:p.E124E;SPIRE1:NM_001128626:exon2:c.G372A:p.E124E;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.G372A:p.E124E;ENSG00000134278:ENST00000453447:exon2:c.G12A:p.E4E;ENSG00000134278:ENST00000497844:exon3:c.G66A:p.E22E;ENSG00000134278:ENST00000462226:exon2:c.G12A:p.E4E;ENSG00000134278:ENST00000410092:exon2:c.G372A:p.E124E;ENSG00000134278:ENST00000449797:exon2:c.G12A:p.E4E;ENSG00000134278:ENST00000309836:exon2:c.G12A:p.E4E;	0.296633181338843	0.502
18	12635062	T	A	18	12635063	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon2:c.A11T:p.E4V;SPIRE1:NM_020148:exon2:c.A371T:p.E124V;SPIRE1:NM_001128626:exon2:c.A371T:p.E124V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.A371T:p.E124V;ENSG00000134278:ENST00000453447:exon2:c.A11T:p.E4V;ENSG00000134278:ENST00000497844:exon3:c.A65T:p.E22V;ENSG00000134278:ENST00000462226:exon2:c.A11T:p.E4V;ENSG00000134278:ENST00000410092:exon2:c.A371T:p.E124V;ENSG00000134278:ENST00000449797:exon2:c.A11T:p.E4V;ENSG00000134278:ENST00000309836:exon2:c.A11T:p.E4V;	0.981363596086954	0.626
18	12635062	T	C	18	12635063	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon2:c.A11G:p.E4G;SPIRE1:NM_020148:exon2:c.A371G:p.E124G;SPIRE1:NM_001128626:exon2:c.A371G:p.E124G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.A371G:p.E124G;ENSG00000134278:ENST00000453447:exon2:c.A11G:p.E4G;ENSG00000134278:ENST00000497844:exon3:c.A65G:p.E22G;ENSG00000134278:ENST00000462226:exon2:c.A11G:p.E4G;ENSG00000134278:ENST00000410092:exon2:c.A371G:p.E124G;ENSG00000134278:ENST00000449797:exon2:c.A11G:p.E4G;ENSG00000134278:ENST00000309836:exon2:c.A11G:p.E4G;	0.969323021435175	0.788
18	12635062	T	G	18	12635063	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon2:c.A11C:p.E4A;SPIRE1:NM_020148:exon2:c.A371C:p.E124A;SPIRE1:NM_001128626:exon2:c.A371C:p.E124A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.A371C:p.E124A;ENSG00000134278:ENST00000453447:exon2:c.A11C:p.E4A;ENSG00000134278:ENST00000497844:exon3:c.A65C:p.E22A;ENSG00000134278:ENST00000462226:exon2:c.A11C:p.E4A;ENSG00000134278:ENST00000410092:exon2:c.A371C:p.E124A;ENSG00000134278:ENST00000449797:exon2:c.A11C:p.E4A;ENSG00000134278:ENST00000309836:exon2:c.A11C:p.E4A;	0.903866579957751	0.622
18	12635063	C	A	18	12635064	y	y	exonic	SPIRE1	stopgain SNV	SPIRE1:NM_001128627:exon2:c.G10T:p.E4X;SPIRE1:NM_020148:exon2:c.G370T:p.E124X;SPIRE1:NM_001128626:exon2:c.G370T:p.E124X;	exonic	ENSG00000134278	stopgain SNV	ENSG00000134278:ENST00000409402:exon2:c.G370T:p.E124X;ENSG00000134278:ENST00000453447:exon2:c.G10T:p.E4X;ENSG00000134278:ENST00000497844:exon3:c.G64T:p.E22X;ENSG00000134278:ENST00000462226:exon2:c.G10T:p.E4X;ENSG00000134278:ENST00000410092:exon2:c.G370T:p.E124X;ENSG00000134278:ENST00000449797:exon2:c.G10T:p.E4X;ENSG00000134278:ENST00000309836:exon2:c.G10T:p.E4X;	0.743970663756698	0.728
18	12635063	C	G	18	12635064	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon2:c.G10C:p.E4Q;SPIRE1:NM_020148:exon2:c.G370C:p.E124Q;SPIRE1:NM_001128626:exon2:c.G370C:p.E124Q;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.G370C:p.E124Q;ENSG00000134278:ENST00000453447:exon2:c.G10C:p.E4Q;ENSG00000134278:ENST00000497844:exon3:c.G64C:p.E22Q;ENSG00000134278:ENST00000462226:exon2:c.G10C:p.E4Q;ENSG00000134278:ENST00000410092:exon2:c.G370C:p.E124Q;ENSG00000134278:ENST00000449797:exon2:c.G10C:p.E4Q;ENSG00000134278:ENST00000309836:exon2:c.G10C:p.E4Q;	1.87011121907398E-4	0.016
18	12635063	C	T	18	12635064	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_001128627:exon2:c.G10A:p.E4K;SPIRE1:NM_020148:exon2:c.G370A:p.E124K;SPIRE1:NM_001128626:exon2:c.G370A:p.E124K;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.G370A:p.E124K;ENSG00000134278:ENST00000453447:exon2:c.G10A:p.E4K;ENSG00000134278:ENST00000497844:exon3:c.G64A:p.E22K;ENSG00000134278:ENST00000462226:exon2:c.G10A:p.E4K;ENSG00000134278:ENST00000410092:exon2:c.G370A:p.E124K;ENSG00000134278:ENST00000449797:exon2:c.G10A:p.E4K;ENSG00000134278:ENST00000309836:exon2:c.G10A:p.E4K;	0.0031295572173349	0.05
18	12635094	A	C	18	12635095	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_020148:exon2:c.T339G:p.G113G;SPIRE1:NM_001128626:exon2:c.T339G:p.G113G;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.T339G:p.G113G;ENSG00000134278:ENST00000497844:exon3:c.T33G:p.G11G;ENSG00000134278:ENST00000410092:exon2:c.T339G:p.G113G;	0.00308975546011415	0.016
18	12635094	A	G	18	12635095	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_020148:exon2:c.T339C:p.G113G;SPIRE1:NM_001128626:exon2:c.T339C:p.G113G;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.T339C:p.G113G;ENSG00000134278:ENST00000497844:exon3:c.T33C:p.G11G;ENSG00000134278:ENST00000410092:exon2:c.T339C:p.G113G;	0.00280263616480842	0.022
18	12635094	A	T	18	12635095	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_020148:exon2:c.T339A:p.G113G;SPIRE1:NM_001128626:exon2:c.T339A:p.G113G;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.T339A:p.G113G;ENSG00000134278:ENST00000497844:exon3:c.T33A:p.G11G;ENSG00000134278:ENST00000410092:exon2:c.T339A:p.G113G;	0.00299219188080865	0.008
18	12635095	C	A	18	12635096	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon2:c.G338T:p.G113V;SPIRE1:NM_001128626:exon2:c.G338T:p.G113V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.G338T:p.G113V;ENSG00000134278:ENST00000497844:exon3:c.G32T:p.G11V;ENSG00000134278:ENST00000410092:exon2:c.G338T:p.G113V;	0.774598432423137	0.536
18	12635095	C	G	18	12635096	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon2:c.G338C:p.G113A;SPIRE1:NM_001128626:exon2:c.G338C:p.G113A;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.G338C:p.G113A;ENSG00000134278:ENST00000497844:exon3:c.G32C:p.G11A;ENSG00000134278:ENST00000410092:exon2:c.G338C:p.G113A;	0.0330153624143034	0.39
18	12635095	C	T	18	12635096	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon2:c.G338A:p.G113D;SPIRE1:NM_001128626:exon2:c.G338A:p.G113D;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon2:c.G338A:p.G113D;ENSG00000134278:ENST00000497844:exon3:c.G32A:p.G11D;ENSG00000134278:ENST00000410092:exon2:c.G338A:p.G113D;	0.059637743807241	0.39
18	12635096	C	A	18	12635097	y	y	splicing	SPIRE1(NM_001128626:exon3:c.338-1G>T;NM_020148:exon3:c.338-1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.338-1G>T;ENST00000410092:exon3:c.338-1G>T;ENST00000497844:exon4:c.32-1G>T)	.	.	0.999946188727699	0.946
18	12635096	C	G	18	12635097	y	y	splicing	SPIRE1(NM_001128626:exon3:c.338-1G>C;NM_020148:exon3:c.338-1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.338-1G>C;ENST00000410092:exon3:c.338-1G>C;ENST00000497844:exon4:c.32-1G>C)	.	.	0.999946188727699	0.942
18	12635096	C	T	18	12635097	y	y	splicing	SPIRE1(NM_001128626:exon3:c.338-1G>A;NM_020148:exon3:c.338-1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.338-1G>A;ENST00000410092:exon3:c.338-1G>A;ENST00000497844:exon4:c.32-1G>A)	.	.	0.99994568797423	0.944
18	12635097	T	A	18	12635098	y	y	splicing	SPIRE1(NM_001128626:exon3:c.338-2A>T;NM_020148:exon3:c.338-2A>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.338-2A>T;ENST00000410092:exon3:c.338-2A>T;ENST00000497844:exon4:c.32-2A>T)	.	.	0.999978791067592	0.944
18	12635097	T	C	18	12635098	y	y	splicing	SPIRE1(NM_001128626:exon3:c.338-2A>G;NM_020148:exon3:c.338-2A>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.338-2A>G;ENST00000410092:exon3:c.338-2A>G;ENST00000497844:exon4:c.32-2A>G)	.	.	0.999978986619032	0.946
18	12635097	T	G	18	12635098	y	y	splicing	SPIRE1(NM_001128626:exon3:c.338-2A>C;NM_020148:exon3:c.338-2A>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon3:c.338-2A>C;ENST00000410092:exon3:c.338-2A>C;ENST00000497844:exon4:c.32-2A>C)	.	.	0.999978986619032	0.946
18	12635098	G	A	18	12635099	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.126692101338956	0.234
18	12635098	G	C	18	12635099	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999736359418021	0.832
18	12635098	G	T	18	12635099	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.91924053529864	0.642
18	12635099	T	A	18	12635100	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.56974971487763E-4	0.006
18	12635099	T	C	18	12635100	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.70354499732414E-5	0.022
18	12635099	T	G	18	12635100	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.4755914523653E-5	0.004
18	12635100	A	C	18	12635101	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.821489770828988	0.638
18	12635100	A	G	18	12635101	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0275464702560847	0.186
18	12635100	A	T	18	12635101	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.683888981469375	0.628
18	12635101	A	C	18	12635102	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999759939186896	0.906
18	12635101	A	G	18	12635102	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00258258371988792	0.084
18	12635101	A	T	18	12635102	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.581707774305873	0.55
18	12635102	T	A	18	12635103	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.7648924448562E-4	0.002
18	12635102	T	C	18	12635103	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.26196339576261E-4	0.002
18	12635102	T	G	18	12635103	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.36822933918675E-4	0.02
18	12635103	A	C	18	12635104	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00775260212922132	0.178
18	12635103	A	G	18	12635104	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.06976298287047E-4	0.03
18	12635103	A	T	18	12635104	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0255567021411363	0.122
18	12635104	A	C	18	12635105	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.869734659450355	0.466
18	12635104	A	G	18	12635105	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0141509416502815	0.252
18	12635104	A	T	18	12635105	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.843833038996224	0.478
18	12635105	A	C	18	12635106	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.546763441164816	0.6
18	12635105	A	G	18	12635106	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0052489943097082	0.158
18	12635105	A	T	18	12635106	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.92011318164872	0.67
18	12635106	A	C	18	12635107	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.708708031019491	0.62
18	12635106	A	G	18	12635107	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.10202461203699	0.138
18	12635106	A	T	18	12635107	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.84373015372029	0.646
18	12635107	A	C	18	12635108	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.997171200029662	0.848
18	12635107	A	G	18	12635108	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00133326274981065	0.026
18	12635107	A	T	18	12635108	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0470850105052105	0.226
18	12636315	G	A	18	12636316	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.1548255067557E-5	0.0
18	12636315	G	C	18	12636316	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39502748842236E-5	0.008
18	12636315	G	T	18	12636316	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39502748842236E-5	0.0
18	12636316	G	A	18	12636317	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	7.75583419401486E-5	0.004
18	12636316	G	C	18	12636317	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.05943593696535E-5	0.0
18	12636316	G	T	18	12636317	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.77882465379529E-5	0.032
18	12636317	A	C	18	12636318	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.51418391700966E-5	0.004
18	12636317	A	G	18	12636318	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.51418391700966E-5	0.004
18	12636317	A	T	18	12636318	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.51418391700966E-5	0.004
18	12636318	T	A	18	12636319	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.41215694109E-6	0.0
18	12636318	T	C	18	12636319	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.41215694109E-6	0.0
18	12636318	T	G	18	12636319	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.41215694109E-6	0.0
18	12636319	T	A	18	12636320	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.78864525412067E-5	0.0
18	12636319	T	C	18	12636320	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.78864525412067E-5	0.0
18	12636319	T	G	18	12636320	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.78864525412067E-5	0.0
18	12636320	T	A	18	12636321	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.33984070840462E-5	0.0
18	12636320	T	C	18	12636321	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.67406312561927E-6	0.008
18	12636320	T	G	18	12636321	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.67406312561927E-6	0.0
18	12636321	A	C	18	12636322	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.56736691428002E-5	0.056
18	12636321	A	G	18	12636322	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.56736691428002E-5	0.096
18	12636321	A	T	18	12636322	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	1.91991176785681E-5	0.0
18	12636322	C	A	18	12636323	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	3.49745092444763E-5	0.0
18	12636322	C	G	18	12636323	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	3.49745092444763E-5	0.0
18	12636322	C	T	18	12636323	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	3.49745092444763E-5	0.0
18	12636323	C	A	18	12636324	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	3.07620641825897E-5	0.0
18	12636323	C	G	18	12636324	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	3.07620641825897E-5	0.0
18	12636323	C	T	18	12636324	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	3.07620641825897E-5	0.0
18	12636324	C	A	18	12636325	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.01163773767764E-5	0.0
18	12636324	C	G	18	12636325	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.01163773767764E-5	0.0
18	12636324	C	T	18	12636325	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	4.7749166663215E-5	0.002
18	12636325	T	A	18	12636326	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	6.89925739660516E-5	0.004
18	12636325	T	C	18	12636326	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	3.31929338280547E-5	0.0
18	12636325	T	G	18	12636326	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	3.31929338280547E-5	0.0
18	12652992	T	A	18	12652993	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.89925739660516E-5	0.008
18	12652992	T	C	18	12652993	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.31929338280547E-5	0.002
18	12652992	T	G	18	12652993	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.31929338280547E-5	0.002
18	12652993	C	A	18	12652994	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.99328296935829E-5	0.012
18	12652993	C	G	18	12652994	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.1036365348547E-5	0.006
18	12652993	C	T	18	12652994	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.99328296935829E-5	0.012
18	12652994	A	C	18	12652995	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.58927937202005E-5	0.0
18	12652994	A	G	18	12652995	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.58927937202005E-5	0.0
18	12652994	A	T	18	12652995	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.58927937202005E-5	0.0
18	12652995	C	A	18	12652996	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.36195737818257E-5	0.002
18	12652995	C	G	18	12652996	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.36195737818257E-5	0.002
18	12652995	C	T	18	12652996	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.36195737818257E-5	0.002
18	12652996	T	A	18	12652997	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.1738525533333E-5	0.002
18	12652996	T	C	18	12652997	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.08788427788342E-5	0.0
18	12652996	T	G	18	12652997	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.08788427788342E-5	0.0
18	12652997	C	A	18	12652998	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.71811775086873E-5	0.002
18	12652997	C	G	18	12652998	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.71811775086873E-5	0.0
18	12652997	C	T	18	12652998	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.71811775086873E-5	0.002
18	12652998	A	C	18	12652999	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	1.08788427788342E-5	0.0
18	12652998	A	G	18	12652999	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	1.08788427788342E-5	0.0
18	12652998	A	T	18	12652999	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	1.08788427788342E-5	0.0
18	12652999	C	A	18	12653000	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	7.687767965882E-5	0.092
18	12652999	C	G	18	12653000	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	6.74714960904026E-5	0.088
18	12652999	C	T	18	12653000	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	7.687767965882E-5	0.092
18	12653000	T	A	18	12653001	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.82827935381688E-5	0.004
18	12653000	T	C	18	12653001	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.82827935381688E-5	0.004
18	12653000	T	G	18	12653001	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.82827935381688E-5	0.004
18	12653001	T	A	18	12653002	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	8.49702646665041E-5	0.006
18	12653001	T	C	18	12653002	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	4.08802802279601E-5	0.0
18	12653001	T	G	18	12653002	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	4.08802802279601E-5	0.0
18	12653002	G	A	18	12653003	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	4.35513354136389E-5	0.008
18	12653002	G	C	18	12653003	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.81952210255558E-5	0.01
18	12653002	G	T	18	12653003	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.81952210255558E-5	0.01
18	12653375	C	A	18	12653376	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.41069364790736E-5	0.014
18	12653375	C	G	18	12653376	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.41069364790736E-5	0.006
18	12653375	C	T	18	12653376	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.80274866394675E-5	0.0
18	12653376	T	A	18	12653377	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.5529151830241E-5	0.006
18	12653376	T	C	18	12653377	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.5529151830241E-5	0.014
18	12653376	T	G	18	12653377	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.5529151830241E-5	0.006
18	12653377	G	A	18	12653378	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.62931229539123E-4	0.004
18	12653377	G	C	18	12653378	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.62931229539123E-4	0.012
18	12653377	G	T	18	12653378	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.62931229539123E-4	0.002
18	12653378	A	C	18	12653379	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.54291542054858E-4	0.008
18	12653378	A	G	18	12653379	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.54291542054858E-4	0.008
18	12653378	A	T	18	12653379	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.54291542054858E-4	0.006
18	12653379	G	A	18	12653380	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.2740146300894E-5	0.0
18	12653379	G	C	18	12653380	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.38968817920707E-5	0.006
18	12653379	G	T	18	12653380	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.38968817920707E-5	0.018
18	12653380	T	A	18	12653381	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.89925739660516E-5	0.006
18	12653380	T	C	18	12653381	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.89925739660516E-5	0.004
18	12653380	T	G	18	12653381	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.89925739660516E-5	0.004
18	12653381	A	C	18	12653382	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000497844:exon3:c.31+2T>G)	.	.	6.54291542054858E-4	0.01
18	12653381	A	G	18	12653382	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000497844:exon3:c.31+2T>C)	.	.	6.54291542054858E-4	0.014
18	12653381	A	T	18	12653382	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000497844:exon3:c.31+2T>A)	.	.	6.54291542054858E-4	0.008
18	12653382	C	A	18	12653383	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000497844:exon3:c.31+1G>T)	.	.	5.08291490468438E-5	0.006
18	12653382	C	G	18	12653383	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000497844:exon3:c.31+1G>C)	.	.	3.48372512049695E-5	0.006
18	12653382	C	T	18	12653383	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278(ENST00000497844:exon3:c.31+1G>A)	.	.	5.08291490468438E-5	0.006
18	12653383	C	A	18	12653384	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.G31T:p.G11C;	2.41069364790736E-5	0.006
18	12653383	C	G	18	12653384	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.G31C:p.G11R;	2.41069364790736E-5	0.006
18	12653383	C	T	18	12653384	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.G31A:p.G11S;	2.41069364790736E-5	0.01
18	12653384	T	A	18	12653385	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.A30T:p.A10A;	6.54291542054858E-4	0.008
18	12653384	T	C	18	12653385	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.A30G:p.A10A;	6.54291542054858E-4	0.008
18	12653384	T	G	18	12653385	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.A30C:p.A10A;	6.54291542054858E-4	0.008
18	12653385	G	A	18	12653386	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.C29T:p.A10V;	2.41069364790736E-5	0.006
18	12653385	G	C	18	12653386	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.C29G:p.A10G;	2.41069364790736E-5	0.008
18	12653385	G	T	18	12653386	n	y	intronic	SPIRE1	.	.	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000497844:exon2:c.C29A:p.A10E;	2.41069364790736E-5	0.006
18	12653438	T	A	18	12653439	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	3.53615724193562E-5	0.002
18	12653438	T	C	18	12653439	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	4.72863585454216E-5	0.006
18	12653438	T	G	18	12653439	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	4.72863585454216E-5	0.006
18	12653439	C	A	18	12653440	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	6.26791465495989E-5	0.006
18	12653439	C	G	18	12653440	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.11203329754734E-5	0.0
18	12653439	C	T	18	12653440	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	9.14505838604605E-5	0.006
18	12653440	C	A	18	12653441	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	7.42544334184685E-5	0.018
18	12653440	C	G	18	12653441	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	7.42544334184685E-5	0.006
18	12653440	C	T	18	12653441	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	5.5529151830241E-5	0.002
18	12653441	T	A	18	12653442	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	4.11173289983824E-5	0.008
18	12653441	T	C	18	12653442	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	4.11173289983824E-5	0.004
18	12653441	T	G	18	12653442	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	4.11173289983824E-5	0.004
18	12653442	G	A	18	12653443	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.39457982047225E-5	0.0
18	12653442	G	C	18	12653443	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.27663100932972E-5	0.0
18	12653442	G	T	18	12653443	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.27663100932972E-5	0.0
18	12653443	T	A	18	12653444	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.11389651227104E-4	0.004
18	12653443	T	C	18	12653444	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.11389651227104E-4	0.004
18	12653443	T	G	18	12653444	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.11389651227104E-4	0.004
18	12653444	G	A	18	12653445	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.39083642728588E-5	0.0
18	12653444	G	C	18	12653445	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.68140984436469E-5	0.0
18	12653444	G	T	18	12653445	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.50861351865397E-5	0.0
18	12653445	A	C	18	12653446	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.25762508039554E-5	0.006
18	12653445	A	G	18	12653446	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.25762508039554E-5	0.006
18	12653445	A	T	18	12653446	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.82939670392646E-5	0.006
18	12653446	A	C	18	12653447	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.72841159385093E-5	0.004
18	12653446	A	G	18	12653447	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.72841159385093E-5	0.004
18	12653446	A	T	18	12653447	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.72841159385093E-5	0.004
18	12653447	A	C	18	12653448	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.25762508039554E-5	0.002
18	12653447	A	G	18	12653448	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.25762508039554E-5	0.002
18	12653447	A	T	18	12653448	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	8.82939670392646E-5	0.004
18	12653448	A	C	18	12653449	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00110797651291257	0.0
18	12653448	A	G	18	12653449	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00110797651291257	0.0
18	12653448	A	T	18	12653449	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00110797651291257	0.0
18	12653449	C	A	18	12653450	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.25762508039554E-5	0.0
18	12653449	C	G	18	12653450	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	9.33930376896499E-5	0.0
18	12653449	C	T	18	12653450	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.25762508039554E-5	0.0
18	12653450	A	C	18	12653451	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.76020749564062E-5	0.004
18	12653450	A	G	18	12653451	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.76020749564062E-5	0.004
18	12653450	A	T	18	12653451	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.76020749564062E-5	0.004
18	12653451	A	C	18	12653452	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.11389651227104E-4	0.006
18	12653451	A	G	18	12653452	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.11389651227104E-4	0.006
18	12653451	A	T	18	12653452	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.12869275217467E-5	0.006
18	12656566	T	A	18	12656567	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00271563352143592	0.032
18	12656566	T	C	18	12656567	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0028317915152967	0.026
18	12656566	T	G	18	12656567	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0028317915152967	0.026
18	12656567	C	A	18	12656568	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.68306564525381E-4	0.014
18	12656567	C	G	18	12656568	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	3.35115461238441E-4	0.014
18	12656567	C	T	18	12656568	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.68306564525381E-4	0.014
18	12656568	T	A	18	12656569	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00267178346707102	0.024
18	12656568	T	C	18	12656569	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00152308426163714	0.026
18	12656568	T	G	18	12656569	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00152308426163714	0.028
18	12656569	T	A	18	12656570	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00271563352143592	0.028
18	12656569	T	C	18	12656570	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0028317915152967	0.04
18	12656569	T	G	18	12656570	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.0028317915152967	0.026
18	12656570	T	A	18	12656571	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39502935366544E-4	0.0
18	12656570	T	C	18	12656571	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	5.19852093269957E-5	0.0
18	12656570	T	G	18	12656571	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.39502935366544E-4	0.0
18	12656571	C	A	18	12656572	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.54864143880111E-4	0.0
18	12656571	C	G	18	12656572	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.39218549020993E-4	0.0
18	12656571	C	T	18	12656572	n	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	4.54864143880111E-4	0.0
18	12656572	A	C	18	12656573	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	0.00398403719286887	0.048
18	12656572	A	G	18	12656573	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	0.00398403719286887	0.046
18	12656572	A	T	18	12656573	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	0.00682883368519733	0.04
18	12656573	C	A	18	12656574	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.77081522621141E-4	0.026
18	12656573	C	G	18	12656574	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	2.77081522621141E-4	0.026
18	12656573	C	T	18	12656574	n	y	intronic	SPIRE1	.	.	splicing	ENSG00000134278	.	.	3.28486440661961E-4	0.026
18	12656574	C	A	18	12656575	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	7.52881759733747E-5	0.0
18	12656574	C	G	18	12656575	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	7.52881759733747E-5	0.0
18	12656574	C	T	18	12656575	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	7.52881759733747E-5	0.0
18	12656575	T	A	18	12656576	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	5.48893788513386E-5	0.002
18	12656575	T	C	18	12656576	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	5.48893788513386E-5	0.002
18	12656575	T	G	18	12656576	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	5.48893788513386E-5	0.002
18	12656576	T	A	18	12656577	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.93008933363103E-5	0.0
18	12656576	T	C	18	12656577	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.93008933363103E-5	0.0
18	12656576	T	G	18	12656577	n	y	intronic	SPIRE1	.	.	UTR5	ENSG00000134278	.	.	2.93008933363103E-5	0.0
18	12657521	G	A	18	12657522	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.589785343968846	0.364
18	12657521	G	C	18	12657522	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.220741672734858	0.276
18	12657521	G	T	18	12657522	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.442494281272775	0.306
18	12657522	G	A	18	12657523	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.24920941149764E-4	0.15
18	12657522	G	C	18	12657523	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	2.06768903126405E-5	0.026
18	12657522	G	T	18	12657523	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	6.78012661845579E-5	0.04
18	12657523	C	A	18	12657524	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	1.21428741626686E-4	0.018
18	12657523	C	G	18	12657524	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00102086939313925	0.154
18	12657523	C	T	18	12657524	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00239496958973508	0.066
18	12657524	C	A	18	12657525	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999800169382058	0.906
18	12657524	C	G	18	12657525	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999472226968185	0.886
18	12657524	C	T	18	12657525	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.999713109950721	0.944
18	12657525	T	A	18	12657526	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.9943732240677	0.85
18	12657525	T	C	18	12657526	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.994054200627559	0.854
18	12657525	T	G	18	12657526	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.980124167277162	0.704
18	12657526	C	A	18	12657527	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.994375977471721	0.82
18	12657526	C	G	18	12657527	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.966319328441144	0.822
18	12657526	C	T	18	12657527	y	y	intronic	SPIRE1	.	.	intronic	ENSG00000134278	.	.	0.00141425385788452	0.048
18	12657527	A	C	18	12657528	y	y	splicing	SPIRE1(NM_001128626:exon2:c.337+2T>G;NM_020148:exon2:c.337+2T>G)	.	.	splicing	ENSG00000134278(ENST00000409402:exon2:c.337+2T>G;ENST00000410092:exon2:c.337+2T>G)	.	.	0.999980378146777	0.906
18	12657527	A	G	18	12657528	y	y	splicing	SPIRE1(NM_001128626:exon2:c.337+2T>C;NM_020148:exon2:c.337+2T>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon2:c.337+2T>C;ENST00000410092:exon2:c.337+2T>C)	.	.	0.999979338301291	0.912
18	12657527	A	T	18	12657528	y	y	splicing	SPIRE1(NM_001128626:exon2:c.337+2T>A;NM_020148:exon2:c.337+2T>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon2:c.337+2T>A;ENST00000410092:exon2:c.337+2T>A)	.	.	0.999984894634896	0.906
18	12657528	C	A	18	12657529	y	y	splicing	SPIRE1(NM_001128626:exon2:c.337+1G>T;NM_020148:exon2:c.337+1G>T)	.	.	splicing	ENSG00000134278(ENST00000409402:exon2:c.337+1G>T;ENST00000410092:exon2:c.337+1G>T)	.	.	0.999993672935256	0.94
18	12657528	C	G	18	12657529	y	y	splicing	SPIRE1(NM_001128626:exon2:c.337+1G>C;NM_020148:exon2:c.337+1G>C)	.	.	splicing	ENSG00000134278(ENST00000409402:exon2:c.337+1G>C;ENST00000410092:exon2:c.337+1G>C)	.	.	0.999993672935256	0.94
18	12657528	C	T	18	12657529	y	y	splicing	SPIRE1(NM_001128626:exon2:c.337+1G>A;NM_020148:exon2:c.337+1G>A)	.	.	splicing	ENSG00000134278(ENST00000409402:exon2:c.337+1G>A;ENST00000410092:exon2:c.337+1G>A)	.	.	0.999993672935256	0.932
18	12657529	C	A	18	12657530	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon1:c.G337T:p.G113C;SPIRE1:NM_001128626:exon1:c.G337T:p.G113C;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.G337T:p.G113C;ENSG00000134278:ENST00000410092:exon1:c.G337T:p.G113C;	0.999903995151098	0.99
18	12657529	C	G	18	12657530	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon1:c.G337C:p.G113R;SPIRE1:NM_001128626:exon1:c.G337C:p.G113R;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.G337C:p.G113R;ENSG00000134278:ENST00000410092:exon1:c.G337C:p.G113R;	0.999975584952528	0.998
18	12657529	C	T	18	12657530	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon1:c.G337A:p.G113S;SPIRE1:NM_001128626:exon1:c.G337A:p.G113S;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.G337A:p.G113S;ENSG00000134278:ENST00000410092:exon1:c.G337A:p.G113S;	0.999926090212497	0.974
18	12657530	C	A	18	12657531	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_020148:exon1:c.G336T:p.A112A;SPIRE1:NM_001128626:exon1:c.G336T:p.A112A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.G336T:p.A112A;ENSG00000134278:ENST00000410092:exon1:c.G336T:p.A112A;	7.76066791937297E-4	0.01
18	12657530	C	G	18	12657531	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_020148:exon1:c.G336C:p.A112A;SPIRE1:NM_001128626:exon1:c.G336C:p.A112A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.G336C:p.A112A;ENSG00000134278:ENST00000410092:exon1:c.G336C:p.A112A;	1.99651675574691E-4	0.006
18	12657530	C	T	18	12657531	y	y	exonic	SPIRE1	synonymous SNV	SPIRE1:NM_020148:exon1:c.G336A:p.A112A;SPIRE1:NM_001128626:exon1:c.G336A:p.A112A;	exonic	ENSG00000134278	synonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.G336A:p.A112A;ENSG00000134278:ENST00000410092:exon1:c.G336A:p.A112A;	4.6272670828365E-4	0.174
18	12657531	G	A	18	12657532	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon1:c.C335T:p.A112V;SPIRE1:NM_001128626:exon1:c.C335T:p.A112V;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.C335T:p.A112V;ENSG00000134278:ENST00000410092:exon1:c.C335T:p.A112V;	0.990809341409149	0.744
18	12657531	G	C	18	12657532	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon1:c.C335G:p.A112G;SPIRE1:NM_001128626:exon1:c.C335G:p.A112G;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.C335G:p.A112G;ENSG00000134278:ENST00000410092:exon1:c.C335G:p.A112G;	0.270407614603584	0.398
18	12657531	G	T	18	12657532	y	y	exonic	SPIRE1	nonsynonymous SNV	SPIRE1:NM_020148:exon1:c.C335A:p.A112E;SPIRE1:NM_001128626:exon1:c.C335A:p.A112E;	exonic	ENSG00000134278	nonsynonymous SNV	ENSG00000134278:ENST00000409402:exon1:c.C335A:p.A112E;ENSG00000134278:ENST00000410092:exon1:c.C335A:p.A112E;	0.228714064461897	0.5
18	12658340	A	C	18	12658341	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon1:c.A96C:p.Q32H;ENSG00000215527:ENST00000400514:exon1:c.A99C:p.Q33H;	5.05808194911997E-5	0.002
18	12658340	A	G	18	12658341	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	synonymous SNV	ENSG00000215527:ENST00000400512:exon1:c.A96G:p.Q32Q;ENSG00000215527:ENST00000400514:exon1:c.A99G:p.Q33Q;	2.25524929795369E-5	0.0
18	12658340	A	T	18	12658341	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon1:c.A96T:p.Q32H;ENSG00000215527:ENST00000400514:exon1:c.A99T:p.Q33H;	5.05808194911997E-5	0.006
18	12658341	T	A	18	12658342	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon1:c.T97A:p.C33S;ENSG00000215527:ENST00000400514:exon1:c.T100A:p.W34R;	6.35428655471156E-5	0.002
18	12658341	T	C	18	12658342	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon1:c.T97C:p.C33R;ENSG00000215527:ENST00000400514:exon1:c.T100C:p.W34R;	3.78864525412067E-5	0.0
18	12658341	T	G	18	12658342	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon1:c.T97G:p.C33G;ENSG00000215527:ENST00000400514:exon1:c.T100G:p.W34G;	8.49702646665041E-5	0.004
18	12658342	G	A	18	12658343	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	stopgain SNV	ENSG00000215527:ENST00000400514:exon1:c.G101A:p.W34X;	0.00103317907039423	0.012
18	12658342	G	C	18	12658343	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon1:c.G98C:p.C33S;ENSG00000215527:ENST00000400514:exon1:c.G101C:p.W34S;	1.4076558401562E-4	0.01
18	12658342	G	T	18	12658343	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon1:c.G98T:p.C33F;ENSG00000215527:ENST00000400514:exon1:c.G101T:p.W34L;	1.4076558401562E-4	0.01
18	12658343	G	A	18	12658344	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon1:c.101+1G>A;ENST00000400512:exon1:c.98+1G>A)	.	.	1.4076558401562E-4	0.01
18	12658343	G	C	18	12658344	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon1:c.101+1G>C;ENST00000400512:exon1:c.98+1G>C)	.	.	1.4076558401562E-4	0.01
18	12658343	G	T	18	12658344	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon1:c.101+1G>T;ENST00000400512:exon1:c.98+1G>T)	.	.	1.4076558401562E-4	0.01
18	12658344	T	A	18	12658345	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon1:c.101+2T>A;ENST00000400512:exon1:c.98+2T>A)	.	.	3.0081866464866E-5	0.002
18	12658344	T	C	18	12658345	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon1:c.101+2T>C;ENST00000400512:exon1:c.98+2T>C)	.	.	3.0081866464866E-5	0.002
18	12658344	T	G	18	12658345	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon1:c.101+2T>G;ENST00000400512:exon1:c.98+2T>G)	.	.	3.0081866464866E-5	0.002
18	12658345	G	A	18	12658346	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	1.4076558401562E-4	0.01
18	12658345	G	C	18	12658346	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	1.4076558401562E-4	0.01
18	12658345	G	T	18	12658346	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	1.4076558401562E-4	0.01
18	12658346	A	C	18	12658347	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	3.74641562475641E-5	0.002
18	12658346	A	G	18	12658347	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	3.74641562475641E-5	0.002
18	12658346	A	T	18	12658347	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	3.74641562475641E-5	0.002
18	12658347	G	A	18	12658348	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.72841159385093E-5	0.0
18	12658347	G	C	18	12658348	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.95905533305893E-5	0.002
18	12658347	G	T	18	12658348	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.72841159385093E-5	0.0
18	12658348	G	A	18	12658349	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	5.87874771976938E-4	0.028
18	12658348	G	C	18	12658349	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.028
18	12658348	G	T	18	12658349	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.028
18	12658349	G	A	18	12658350	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	6.34963260403154E-4	0.028
18	12658349	G	C	18	12658350	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.028
18	12658349	G	T	18	12658350	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.028
18	12658350	C	A	18	12658351	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.028
18	12658350	C	G	18	12658351	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.028
18	12658350	C	T	18	12658351	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	9.15936132158374E-4	0.028
18	12658538	C	A	18	12658539	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	1.11389651227104E-4	0.0
18	12658538	C	G	18	12658539	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	1.00925306948278E-4	0.0
18	12658538	C	T	18	12658539	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	1.11389651227104E-4	0.0
18	12658539	A	C	18	12658540	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	9.94595213270373E-5	0.006
18	12658539	A	G	18	12658540	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	9.94595213270373E-5	0.006
18	12658539	A	T	18	12658540	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.06245011101001E-4	0.006
18	12658540	G	A	18	12658541	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	6.34963260403154E-4	0.02
18	12658540	G	C	18	12658541	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.02
18	12658540	G	T	18	12658541	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.02
18	12658541	C	A	18	12658542	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.72841159385093E-5	0.0
18	12658541	C	G	18	12658542	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.72841159385093E-5	0.0
18	12658541	C	T	18	12658542	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.72841159385093E-5	0.0
18	12658542	G	A	18	12658543	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	6.35428655471156E-5	0.002
18	12658542	G	C	18	12658543	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	6.35428655471156E-5	0.004
18	12658542	G	T	18	12658543	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	6.35428655471156E-5	0.002
18	12658543	G	A	18	12658544	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.02
18	12658543	G	C	18	12658544	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.02
18	12658543	G	T	18	12658544	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	4.41863113010999E-4	0.02
18	12658544	G	A	18	12658545	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.72841159385093E-5	0.0
18	12658544	G	C	18	12658545	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.72841159385093E-5	0.0
18	12658544	G	T	18	12658545	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	2.72841159385093E-5	0.0
18	12658545	A	C	18	12658546	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	3.0081866464866E-5	0.002
18	12658545	A	G	18	12658546	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	3.0081866464866E-5	0.002
18	12658545	A	T	18	12658546	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	6.23841440294259E-5	0.002
18	12658546	G	A	18	12658547	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	9.3927970354688E-4	0.02
18	12658546	G	C	18	12658547	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	7.33152596879021E-4	0.02
18	12658546	G	T	18	12658547	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	7.33152596879021E-4	0.02
18	12658547	A	C	18	12658548	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	0.00125102111791328	0.03
18	12658547	A	G	18	12658548	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	0.00125102111791328	0.03
18	12658547	A	T	18	12658548	n	y	upstream	PSMG2;SPIRE1	.	.	intronic	ENSG00000215527	.	.	8.7678780042947E-4	0.032
18	12658548	A	C	18	12658549	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400512:exon2:c.99-2A>C)	.	.	8.52739622342668E-4	0.026
18	12658548	A	G	18	12658549	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400512:exon2:c.99-2A>G)	.	.	8.52739622342668E-4	0.026
18	12658548	A	T	18	12658549	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400512:exon2:c.99-2A>T)	.	.	8.43875797435443E-4	0.026
18	12658549	G	A	18	12658550	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400512:exon2:c.99-1G>A)	.	.	0.00116674076377048	0.018
18	12658549	G	C	18	12658550	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400512:exon2:c.99-1G>C)	.	.	0.00116674076377048	0.02
18	12658549	G	T	18	12658550	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400512:exon2:c.99-1G>T)	.	.	0.00116674076377048	0.016
18	12658550	T	A	18	12658551	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	stopgain SNV	ENSG00000215527:ENST00000400512:exon2:c.T99A:p.C33X;	8.52739622342668E-4	0.028
18	12658550	T	C	18	12658551	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	synonymous SNV	ENSG00000215527:ENST00000400512:exon2:c.T99C:p.C33C;	6.72371407407861E-4	0.032
18	12658550	T	G	18	12658551	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon2:c.T99G:p.C33W;	8.7678780042947E-4	0.032
18	12658551	C	A	18	12658552	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon2:c.C100A:p.H34N;	0.0155714641880789	0.142
18	12658551	C	G	18	12658552	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon2:c.C100G:p.H34D;	0.0155714641880789	0.148
18	12658551	C	T	18	12658552	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400512:exon2:c.C100T:p.H34Y;	0.00116674076377048	0.072
18	12658561	G	A	18	12658562	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	synonymous SNV	ENSG00000215527:ENST00000400512:exon2:c.G110A:p.X37X;	1.1189536267874E-4	0.002
18	12658561	G	C	18	12658562	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	stoploss SNV	ENSG00000215527:ENST00000400512:exon2:c.G110C:p.X37S;	2.45427510716187E-4	0.002
18	12658561	G	T	18	12658562	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	stoploss SNV	ENSG00000215527:ENST00000400512:exon2:c.G110T:p.X37L;	2.45427510716187E-4	0.002
18	12658562	A	C	18	12658563	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	stoploss SNV	ENSG00000215527:ENST00000400512:exon2:c.A111C:p.X37C;	6.59869935472987E-5	0.002
18	12658562	A	G	18	12658563	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	stoploss SNV	ENSG00000215527:ENST00000400512:exon2:c.A111G:p.X37W;	3.0081866464866E-5	0.002
18	12658562	A	T	18	12658563	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	stoploss SNV	ENSG00000215527:ENST00000400512:exon2:c.A111T:p.X37C;	3.0081866464866E-5	0.002
18	12658563	C	A	18	12658564	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	5.15941453541388E-5	0.0
18	12658563	C	G	18	12658564	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	6.89925739660516E-5	0.018
18	12658563	C	T	18	12658564	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	6.89925739660516E-5	0.02
18	12658564	G	A	18	12658565	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	6.12869275217467E-5	0.0
18	12658564	G	C	18	12658565	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	1.11389651227104E-4	0.0
18	12658564	G	T	18	12658565	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	1.11389651227104E-4	0.0
18	12658565	T	A	18	12658566	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	3.37627150446011E-4	0.028
18	12658565	T	C	18	12658566	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	3.37627150446011E-4	0.006
18	12658565	T	G	18	12658566	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	9.94595213270373E-5	0.006
18	12658566	T	A	18	12658567	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	4.33019643212499E-5	0.002
18	12658566	T	C	18	12658567	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	7.87029440284394E-5	0.002
18	12658566	T	G	18	12658567	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	3.92337711406789E-5	0.016
18	12658567	C	A	18	12658568	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	2.9188670368541E-4	0.006
18	12658567	C	G	18	12658568	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	1.4076558401562E-4	0.006
18	12658567	C	T	18	12658568	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	3.08739841361144E-4	0.006
18	12658568	C	A	18	12658569	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	1.69884688945688E-4	0.012
18	12658568	C	G	18	12658569	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	3.08739841361144E-4	0.012
18	12658568	C	T	18	12658569	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	3.08739841361144E-4	0.006
18	12658569	C	A	18	12658570	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	6.89925739660516E-5	0.004
18	12658569	C	G	18	12658570	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	3.31929338280547E-5	0.004
18	12658569	C	T	18	12658570	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	5.15941453541388E-5	0.002
18	12658570	T	A	18	12658571	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	3.0081866464866E-5	0.002
18	12658570	T	C	18	12658571	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	6.59869935472987E-5	0.002
18	12658570	T	G	18	12658571	n	y	upstream	PSMG2;SPIRE1	.	.	UTR3	ENSG00000215527	.	.	6.59869935472987E-5	0.002
18	12658571	A	C	18	12658572	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon2:c.102-2A>C)	.	.	3.0081866464866E-5	0.002
18	12658571	A	G	18	12658572	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon2:c.102-2A>G)	.	.	3.0081866464866E-5	0.002
18	12658571	A	T	18	12658572	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon2:c.102-2A>T)	.	.	3.0081866464866E-5	0.002
18	12658572	G	A	18	12658573	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon2:c.102-1G>A)	.	.	1.4076558401562E-4	0.006
18	12658572	G	C	18	12658573	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon2:c.102-1G>C)	.	.	1.4076558401562E-4	0.006
18	12658572	G	T	18	12658573	n	y	upstream	PSMG2;SPIRE1	.	.	splicing	ENSG00000215527(ENST00000400514:exon2:c.102-1G>T)	.	.	1.4076558401562E-4	0.006
18	12658573	G	A	18	12658574	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	stopgain SNV	ENSG00000215527:ENST00000400514:exon2:c.G102A:p.W34X;	6.14959085947539E-4	0.008
18	12658573	G	C	18	12658574	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400514:exon2:c.G102C:p.W34C;	2.27163650926202E-4	0.02
18	12658573	G	T	18	12658574	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400514:exon2:c.G102T:p.W34C;	2.27163650926202E-4	0.018
18	12658574	C	A	18	12658575	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400514:exon2:c.C103A:p.R35S;	1.11389651227104E-4	0.0
18	12658574	C	G	18	12658575	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400514:exon2:c.C103G:p.R35G;	5.5529151830241E-5	0.0
18	12658574	C	T	18	12658575	n	y	upstream	PSMG2;SPIRE1	.	.	exonic	ENSG00000215527	nonsynonymous SNV	ENSG00000215527:ENST00000400514:exon2:c.C103T:p.R35C;	1.00925306948278E-4	0.0
18	12658770	A	C	18	12658771	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	7.35564875774025E-4	0.01
18	12658770	A	G	18	12658771	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	7.35564875774025E-4	0.012
18	12658770	A	T	18	12658771	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	7.35564875774025E-4	0.01
18	12658771	G	A	18	12658772	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	1.46084811719515E-4	0.014
18	12658771	G	C	18	12658772	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	2.13605109001537E-4	0.03
18	12658771	G	T	18	12658772	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	2.13605109001537E-4	0.032
18	12658772	G	A	18	12658773	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	1.7905403730535E-4	0.01
18	12658772	G	C	18	12658773	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	1.82127296638167E-4	0.004
18	12658772	G	T	18	12658773	y	y	UTR5	PSMG2	.	.	UTR5;UTR3	ENSG00000128789;ENSG00000215527	.	.	1.7905403730535E-4	0.02
18	12658773	G	A	18	12658774	y	y	splicing	PSMG2	.	.	splicing	ENSG00000128789	.	.	1.64870749430405E-4	0.022
18	12658773	G	C	18	12658774	y	y	splicing	PSMG2	.	.	splicing	ENSG00000128789	.	.	1.71941710566322E-4	0.0
18	12658773	G	T	18	12658774	y	y	splicing	PSMG2	.	.	splicing	ENSG00000128789	.	.	1.20467738660625E-4	0.002
18	12658774	T	A	18	12658775	y	y	splicing	PSMG2	.	.	splicing	ENSG00000128789	.	.	1.03510451072954E-4	0.0
18	12658774	T	C	18	12658775	y	y	splicing	PSMG2	.	.	splicing	ENSG00000128789	.	.	1.51355887585099E-4	0.002
18	12658774	T	G	18	12658775	y	y	splicing	PSMG2	.	.	splicing	ENSG00000128789	.	.	1.51355887585099E-4	0.002
18	12658775	A	C	18	12658776	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.6779842831443E-4	0.002
18	12658775	A	G	18	12658776	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.6779842831443E-4	0.004
18	12658775	A	T	18	12658776	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.14755901296468E-4	0.0
18	12658776	A	C	18	12658777	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	2.48380015150858E-4	0.006
18	12658776	A	G	18	12658777	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	2.48380015150858E-4	0.006
18	12658776	A	T	18	12658777	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.69869282893757E-4	0.0
18	12658777	G	A	18	12658778	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	2.69336657131178E-4	0.004
18	12658777	G	C	18	12658778	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.99631197343012E-4	0.004
18	12658777	G	T	18	12658778	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.99631197343012E-4	0.0
18	12658778	C	A	18	12658779	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.7357792130175E-4	0.0
18	12658778	C	G	18	12658779	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.7357792130175E-4	0.002
18	12658778	C	T	18	12658779	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.7357792130175E-4	0.0
18	12658779	A	C	18	12658780	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	7.01315188657279E-5	0.0
18	12658779	A	G	18	12658780	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	7.01315188657279E-5	0.0
18	12658779	A	T	18	12658780	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.00796321454825E-4	0.0
18	12658780	C	A	18	12658781	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.22025199828459E-4	0.0
18	12658780	C	G	18	12658781	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.22025199828459E-4	0.0
18	12658780	C	T	18	12658781	y	y	intronic	PSMG2	.	.	UTR3	ENSG00000215527	.	.	1.41985992790184E-4	0.0
18	12673501	A	C	18	12673502	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon12:c.T1843G:p.S615A;CEP76:NM_001271989:exon11:c.T1618G:p.S540A;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon11:c.T1618G:p.S540A;ENSG00000101624:ENST00000262127:exon12:c.T1843G:p.S615A;	0.57059746288011	0.488
18	12673501	A	G	18	12673502	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon12:c.T1843C:p.S615P;CEP76:NM_001271989:exon11:c.T1618C:p.S540P;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon11:c.T1618C:p.S540P;ENSG00000101624:ENST00000262127:exon12:c.T1843C:p.S615P;	0.416808948387292	0.596
18	12673501	A	T	18	12673502	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon12:c.T1843A:p.S615T;CEP76:NM_001271989:exon11:c.T1618A:p.S540T;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon11:c.T1618A:p.S540T;ENSG00000101624:ENST00000262127:exon12:c.T1843A:p.S615T;	0.537254793108648	0.49
18	12673502	T	A	18	12673503	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon12:c.A1842T:p.R614R;CEP76:NM_001271989:exon11:c.A1617T:p.R539R;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon11:c.A1617T:p.R539R;ENSG00000101624:ENST00000262127:exon12:c.A1842T:p.R614R;	1.902332713299E-4	0.014
18	12673502	T	C	18	12673503	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon12:c.A1842G:p.R614R;CEP76:NM_001271989:exon11:c.A1617G:p.R539R;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon11:c.A1617G:p.R539R;ENSG00000101624:ENST00000262127:exon12:c.A1842G:p.R614R;	2.58151546646918E-5	0.004
18	12673502	T	G	18	12673503	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon12:c.A1842C:p.R614R;CEP76:NM_001271989:exon11:c.A1617C:p.R539R;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon11:c.A1617C:p.R539R;ENSG00000101624:ENST00000262127:exon12:c.A1842C:p.R614R;	1.85030038568325E-4	0.026
18	12673503	C	A	18	12673504	y	y	splicing	CEP76(NM_024899:exon13:c.1842-1G>T;NM_001271989:exon12:c.1617-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon13:c.1837-1G>T;ENST00000262127:exon13:c.1842-1G>T;ENST00000423709:exon12:c.1617-1G>T)	.	.	0.999990361384395	0.938
18	12673503	C	G	18	12673504	y	y	splicing	CEP76(NM_024899:exon13:c.1842-1G>C;NM_001271989:exon12:c.1617-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon13:c.1837-1G>C;ENST00000262127:exon13:c.1842-1G>C;ENST00000423709:exon12:c.1617-1G>C)	.	.	0.999990361384395	0.938
18	12673503	C	T	18	12673504	y	y	splicing	CEP76(NM_024899:exon13:c.1842-1G>A;NM_001271989:exon12:c.1617-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon13:c.1837-1G>A;ENST00000262127:exon13:c.1842-1G>A;ENST00000423709:exon12:c.1617-1G>A)	.	.	0.999990361384395	0.938
18	12673504	T	A	18	12673505	y	y	splicing	CEP76(NM_024899:exon13:c.1842-2A>T;NM_001271989:exon12:c.1617-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon13:c.1837-2A>T;ENST00000262127:exon13:c.1842-2A>T;ENST00000423709:exon12:c.1617-2A>T)	.	.	0.999988247793601	0.932
18	12673504	T	C	18	12673505	y	y	splicing	CEP76(NM_024899:exon13:c.1842-2A>G;NM_001271989:exon12:c.1617-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon13:c.1837-2A>G;ENST00000262127:exon13:c.1842-2A>G;ENST00000423709:exon12:c.1617-2A>G)	.	.	0.999988247793601	0.93
18	12673504	T	G	18	12673505	y	y	splicing	CEP76(NM_024899:exon13:c.1842-2A>C;NM_001271989:exon12:c.1617-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon13:c.1837-2A>C;ENST00000262127:exon13:c.1842-2A>C;ENST00000423709:exon12:c.1617-2A>C)	.	.	0.999988247793601	0.932
18	12673505	A	C	18	12673506	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.961490310128532	0.718
18	12673505	A	G	18	12673506	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.7172201169731E-5	0.002
18	12673505	A	T	18	12673506	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00355721050204696	0.142
18	12673506	T	A	18	12673507	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.35696857907114E-4	0.014
18	12673506	T	C	18	12673507	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.933194562643142	0.736
18	12673506	T	G	18	12673507	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.5994707149379E-5	0.0
18	12673507	T	A	18	12673508	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.60163439616627E-5	0.07
18	12673507	T	C	18	12673508	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.993650649879004	0.968
18	12673507	T	G	18	12673508	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.37079346776222E-5	0.0
18	12673508	T	A	18	12673509	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.87104427432258E-5	0.0
18	12673508	T	C	18	12673509	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.24075846305187E-4	0.0
18	12673508	T	G	18	12673509	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.06980477369806E-4	0.006
18	12673509	A	C	18	12673510	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0307809578346409	0.124
18	12673509	A	G	18	12673510	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.59442334503652E-5	0.0
18	12673509	A	T	18	12673510	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0228598725782668	0.114
18	12673510	A	C	18	12673511	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0672120996718577	0.306
18	12673510	A	G	18	12673511	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.10041182806429E-4	0.012
18	12673510	A	T	18	12673511	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.280234537473466	0.274
18	12673511	G	A	18	12673512	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.29770153694825E-5	0.0
18	12673511	G	C	18	12673512	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.98528357643042E-4	0.104
18	12673511	G	T	18	12673512	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.54238624116468E-4	0.07
18	12673512	A	C	18	12673513	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00586381749472403	0.302
18	12673512	A	G	18	12673513	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.32738827320298E-4	0.002
18	12673512	A	T	18	12673513	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.141344427050452	0.408
18	12673513	A	C	18	12673514	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0242371972906048	0.46
18	12673513	A	G	18	12673514	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.24135148536357E-4	0.056
18	12673513	A	T	18	12673514	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.164422811776954	0.542
18	12673514	A	C	18	12673515	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.100433358106489	0.466
18	12673514	A	G	18	12673515	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.01916235979559E-4	0.058
18	12673514	A	T	18	12673515	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.529071714377655	0.518
18	12674527	C	A	18	12674528	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.82733392834611E-5	0.0
18	12674527	C	G	18	12674528	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.81846412022036E-6	0.0
18	12674527	C	T	18	12674528	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.76516704256555E-6	0.0
18	12674528	A	C	18	12674529	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.26938104713626E-4	0.006
18	12674528	A	G	18	12674529	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.26938104713626E-4	0.006
18	12674528	A	T	18	12674529	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.38517818446919E-4	0.006
18	12674529	C	A	18	12674530	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.9221372991834E-5	0.0
18	12674529	C	G	18	12674530	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.66477832946157E-5	0.0
18	12674529	C	T	18	12674530	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.6645471196587E-5	0.0
18	12674530	C	A	18	12674531	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.992132334687548	0.802
18	12674530	C	G	18	12674531	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.992132334687548	0.782
18	12674530	C	T	18	12674531	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.996942487997225	0.862
18	12674531	T	A	18	12674532	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.62546569203435	0.61
18	12674531	T	C	18	12674532	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.802969226989639	0.7
18	12674531	T	G	18	12674532	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.227466031460482	0.352
18	12674532	T	A	18	12674533	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.99967903740101	0.872
18	12674532	T	C	18	12674533	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.504361581462522	0.404
18	12674532	T	G	18	12674533	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.997932278953928	0.764
18	12674533	A	C	18	12674534	y	y	splicing	CEP76(NM_024899:exon12:c.1841+2T>G;NM_001271989:exon11:c.1616+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1836+2T>G;ENST00000262127:exon12:c.1841+2T>G;ENST00000423709:exon11:c.1616+2T>G)	.	.	0.999989917668626	0.928
18	12674533	A	G	18	12674534	y	y	splicing	CEP76(NM_024899:exon12:c.1841+2T>C;NM_001271989:exon11:c.1616+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1836+2T>C;ENST00000262127:exon12:c.1841+2T>C;ENST00000423709:exon11:c.1616+2T>C)	.	.	0.999941273443095	0.89
18	12674533	A	T	18	12674534	y	y	splicing	CEP76(NM_024899:exon12:c.1841+2T>A;NM_001271989:exon11:c.1616+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1836+2T>A;ENST00000262127:exon12:c.1841+2T>A;ENST00000423709:exon11:c.1616+2T>A)	.	.	0.999989917668626	0.928
18	12674534	C	A	18	12674535	y	y	splicing	CEP76(NM_024899:exon12:c.1841+1G>T;NM_001271989:exon11:c.1616+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1836+1G>T;ENST00000262127:exon12:c.1841+1G>T;ENST00000423709:exon11:c.1616+1G>T)	.	.	0.999986675681007	0.928
18	12674534	C	G	18	12674535	y	y	splicing	CEP76(NM_024899:exon12:c.1841+1G>C;NM_001271989:exon11:c.1616+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1836+1G>C;ENST00000262127:exon12:c.1841+1G>C;ENST00000423709:exon11:c.1616+1G>C)	.	.	0.999986675681007	0.928
18	12674534	C	T	18	12674535	y	y	splicing	CEP76(NM_024899:exon12:c.1841+1G>A;NM_001271989:exon11:c.1616+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1836+1G>A;ENST00000262127:exon12:c.1841+1G>A;ENST00000423709:exon11:c.1616+1G>A)	.	.	0.999986675681007	0.928
18	12674535	C	A	18	12674536	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.G1841T:p.R614L;CEP76:NM_001271989:exon10:c.G1616T:p.R539L;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.G1616T:p.R539L;ENSG00000101624:ENST00000262127:exon11:c.G1841T:p.R614L;	0.999963359935578	0.974
18	12674535	C	G	18	12674536	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.G1841C:p.R614P;CEP76:NM_001271989:exon10:c.G1616C:p.R539P;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.G1616C:p.R539P;ENSG00000101624:ENST00000262127:exon11:c.G1841C:p.R614P;	0.999996849704514	0.988
18	12674535	C	T	18	12674536	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.G1841A:p.R614Q;CEP76:NM_001271989:exon10:c.G1616A:p.R539Q;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.G1616A:p.R539Q;ENSG00000101624:ENST00000262127:exon11:c.G1841A:p.R614Q;	0.999978878209199	0.994
18	12674536	G	A	18	12674537	y	y	exonic	CEP76	stopgain SNV	CEP76:NM_024899:exon11:c.C1840T:p.R614X;CEP76:NM_001271989:exon10:c.C1615T:p.R539X;	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000423709:exon10:c.C1615T:p.R539X;ENSG00000101624:ENST00000262127:exon11:c.C1840T:p.R614X;	0.0347111025991876	0.308
18	12674536	G	C	18	12674537	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.C1840G:p.R614G;CEP76:NM_001271989:exon10:c.C1615G:p.R539G;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.C1615G:p.R539G;ENSG00000101624:ENST00000262127:exon11:c.C1840G:p.R614G;	0.00655625570023447	0.104
18	12674536	G	T	18	12674537	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon11:c.C1840A:p.R614R;CEP76:NM_001271989:exon10:c.C1615A:p.R539R;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.C1615A:p.R539R;ENSG00000101624:ENST00000262127:exon11:c.C1840A:p.R614R;	2.98402884706991E-4	0.11
18	12674537	A	C	18	12674538	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon11:c.T1839G:p.L613L;CEP76:NM_001271989:exon10:c.T1614G:p.L538L;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.T1614G:p.L538L;ENSG00000101624:ENST00000262127:exon11:c.T1839G:p.L613L;	0.00300946476126729	0.062
18	12674537	A	G	18	12674538	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon11:c.T1839C:p.L613L;CEP76:NM_001271989:exon10:c.T1614C:p.L538L;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.T1614C:p.L538L;ENSG00000101624:ENST00000262127:exon11:c.T1839C:p.L613L;	0.00165863751020418	0.016
18	12674537	A	T	18	12674538	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon11:c.T1839A:p.L613L;CEP76:NM_001271989:exon10:c.T1614A:p.L538L;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.T1614A:p.L538L;ENSG00000101624:ENST00000262127:exon11:c.T1839A:p.L613L;	0.00167349979827902	0.014
18	12674751	T	A	18	12674752	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.A1625T:p.D542V;CEP76:NM_001271989:exon10:c.A1400T:p.D467V;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.A1400T:p.D467V;ENSG00000101624:ENST00000262127:exon11:c.A1625T:p.D542V;	2.13392277888844E-5	0.008
18	12674751	T	C	18	12674752	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.A1625G:p.D542G;CEP76:NM_001271989:exon10:c.A1400G:p.D467G;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.A1400G:p.D467G;ENSG00000101624:ENST00000262127:exon11:c.A1625G:p.D542G;	3.34286230846757E-4	0.048
18	12674751	T	G	18	12674752	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.A1625C:p.D542A;CEP76:NM_001271989:exon10:c.A1400C:p.D467A;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.A1400C:p.D467A;ENSG00000101624:ENST00000262127:exon11:c.A1625C:p.D542A;	1.5720161131863E-4	0.024
18	12674752	C	A	18	12674753	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.G1624T:p.D542Y;CEP76:NM_001271989:exon10:c.G1399T:p.D467Y;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.G1399T:p.D467Y;ENSG00000101624:ENST00000262127:exon11:c.G1624T:p.D542Y;	0.979924973753476	0.832
18	12674752	C	G	18	12674753	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.G1624C:p.D542H;CEP76:NM_001271989:exon10:c.G1399C:p.D467H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.G1399C:p.D467H;ENSG00000101624:ENST00000262127:exon11:c.G1624C:p.D542H;	0.804618198405081	0.698
18	12674752	C	T	18	12674753	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon11:c.G1624A:p.D542N;CEP76:NM_001271989:exon10:c.G1399A:p.D467N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon10:c.G1399A:p.D467N;ENSG00000101624:ENST00000262127:exon11:c.G1624A:p.D542N;	0.132499501089936	0.4
18	12674753	C	A	18	12674754	y	y	splicing	CEP76(NM_024899:exon12:c.1624-1G>T;NM_001271989:exon11:c.1399-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1619-1G>T;ENST00000262127:exon12:c.1624-1G>T;ENST00000423709:exon11:c.1399-1G>T)	.	.	0.99996748057446	0.9
18	12674753	C	G	18	12674754	y	y	splicing	CEP76(NM_024899:exon12:c.1624-1G>C;NM_001271989:exon11:c.1399-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1619-1G>C;ENST00000262127:exon12:c.1624-1G>C;ENST00000423709:exon11:c.1399-1G>C)	.	.	0.999969242257053	0.864
18	12674753	C	T	18	12674754	y	y	splicing	CEP76(NM_024899:exon12:c.1624-1G>A;NM_001271989:exon11:c.1399-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1619-1G>A;ENST00000262127:exon12:c.1624-1G>A;ENST00000423709:exon11:c.1399-1G>A)	.	.	0.99996748057446	0.904
18	12674754	T	A	18	12674755	y	y	splicing	CEP76(NM_024899:exon12:c.1624-2A>T;NM_001271989:exon11:c.1399-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1619-2A>T;ENST00000262127:exon12:c.1624-2A>T;ENST00000423709:exon11:c.1399-2A>T)	.	.	0.999387139742559	0.604
18	12674754	T	C	18	12674755	y	y	splicing	CEP76(NM_024899:exon12:c.1624-2A>G;NM_001271989:exon11:c.1399-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1619-2A>G;ENST00000262127:exon12:c.1624-2A>G;ENST00000423709:exon11:c.1399-2A>G)	.	.	0.99925213768365	0.606
18	12674754	T	G	18	12674755	y	y	splicing	CEP76(NM_024899:exon12:c.1624-2A>C;NM_001271989:exon11:c.1399-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon12:c.1619-2A>C;ENST00000262127:exon12:c.1624-2A>C;ENST00000423709:exon11:c.1399-2A>C)	.	.	0.99925213768365	0.608
18	12674755	A	C	18	12674756	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.892892648264893	0.716
18	12674755	A	G	18	12674756	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.40668996141407E-5	0.0
18	12674755	A	T	18	12674756	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00543513677300351	0.194
18	12674756	T	A	18	12674757	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.75839241700965E-5	0.0
18	12674756	T	C	18	12674757	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.38754606676552E-6	0.0
18	12674756	T	G	18	12674757	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.76352642837359E-6	0.004
18	12674757	G	A	18	12674758	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.22963649052722E-5	0.01
18	12674757	G	C	18	12674758	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.88363130088918E-4	0.164
18	12674757	G	T	18	12674758	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.1869789729353E-5	0.024
18	12674758	A	C	18	12674759	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.225400875523817	0.432
18	12674758	A	G	18	12674759	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.95506866180824E-4	0.056
18	12674758	A	T	18	12674759	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.475874773566818	0.412
18	12674759	G	A	18	12674760	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.95882225477524E-5	0.0
18	12674759	G	C	18	12674760	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00311838594607618	0.096
18	12674759	G	T	18	12674760	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.005795083307319	0.104
18	12674760	C	A	18	12674761	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.25682479538314E-5	0.0
18	12674760	C	G	18	12674761	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.25682479538314E-5	0.0
18	12674760	C	T	18	12674761	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.59937699050816E-5	0.016
18	12674761	A	C	18	12674762	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0305152614013513	0.258
18	12674761	A	G	18	12674762	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.03313501815508E-4	0.0
18	12674761	A	T	18	12674762	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.99996861920316	0.956
18	12674762	A	C	18	12674763	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.996731626556818	0.96
18	12674762	A	G	18	12674763	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.58456995340471E-5	0.002
18	12674762	A	T	18	12674763	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0130380631805911	0.196
18	12674763	T	A	18	12674764	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.59918642704535E-5	0.02
18	12674763	T	C	18	12674764	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.4995058156172E-5	0.0
18	12674763	T	G	18	12674764	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.58716764222823E-5	0.0
18	12674764	C	A	18	12674765	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.75176276241806E-4	0.032
18	12674764	C	G	18	12674765	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.62873455724243E-4	0.018
18	12674764	C	T	18	12674765	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.9176126088266E-4	0.014
18	12678100	T	A	18	12678101	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.14767442097854E-5	0.0
18	12678100	T	C	18	12678101	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.21762827455054E-5	0.0
18	12678100	T	G	18	12678101	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.26501254653793E-5	0.0
18	12678101	G	A	18	12678102	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00114612828037317	0.02
18	12678101	G	C	18	12678102	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.13676398332841E-4	0.01
18	12678101	G	T	18	12678102	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.78958691012223E-5	0.0
18	12678102	A	C	18	12678103	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.53354401512939E-4	0.038
18	12678102	A	G	18	12678103	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00599732002480631	0.062
18	12678102	A	T	18	12678103	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00283904753677444	0.046
18	12678103	A	C	18	12678104	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.55156580965276E-4	0.038
18	12678103	A	G	18	12678104	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.65874620011741E-5	0.0
18	12678103	A	T	18	12678104	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.71703300857051E-4	0.002
18	12678104	T	A	18	12678105	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.648263150056024	0.488
18	12678104	T	C	18	12678105	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.778114475611325	0.564
18	12678104	T	G	18	12678105	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.59863564481761	0.492
18	12678105	T	A	18	12678106	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.993586567139605	0.656
18	12678105	T	C	18	12678106	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.410516595325512	0.404
18	12678105	T	G	18	12678106	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.996092239387841	0.682
18	12678106	A	C	18	12678107	y	y	splicing	CEP76(NM_024899:exon11:c.1623+2T>G;NM_001271989:exon10:c.1398+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1618+2T>G;ENST00000262127:exon11:c.1623+2T>G;ENST00000423709:exon10:c.1398+2T>G)	.	.	0.99994568797423	0.926
18	12678106	A	G	18	12678107	y	y	splicing	CEP76(NM_024899:exon11:c.1623+2T>C;NM_001271989:exon10:c.1398+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1618+2T>C;ENST00000262127:exon11:c.1623+2T>C;ENST00000423709:exon10:c.1398+2T>C)	.	.	0.987955382770663	0.654
18	12678106	A	T	18	12678107	y	y	splicing	CEP76(NM_024899:exon11:c.1623+2T>A;NM_001271989:exon10:c.1398+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1618+2T>A;ENST00000262127:exon11:c.1623+2T>A;ENST00000423709:exon10:c.1398+2T>A)	.	.	0.999978952611685	0.928
18	12678107	C	A	18	12678108	y	y	splicing	CEP76(NM_024899:exon11:c.1623+1G>T;NM_001271989:exon10:c.1398+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1618+1G>T;ENST00000262127:exon11:c.1623+1G>T;ENST00000423709:exon10:c.1398+1G>T)	.	.	0.999986675681007	0.932
18	12678107	C	G	18	12678108	y	y	splicing	CEP76(NM_024899:exon11:c.1623+1G>C;NM_001271989:exon10:c.1398+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1618+1G>C;ENST00000262127:exon11:c.1623+1G>C;ENST00000423709:exon10:c.1398+1G>C)	.	.	0.999986675681007	0.932
18	12678107	C	T	18	12678108	y	y	splicing	CEP76(NM_024899:exon11:c.1623+1G>A;NM_001271989:exon10:c.1398+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1618+1G>A;ENST00000262127:exon11:c.1623+1G>A;ENST00000423709:exon10:c.1398+1G>A)	.	.	0.999986675681007	0.932
18	12678108	C	A	18	12678109	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.G1623T:p.K541N;CEP76:NM_001271989:exon9:c.G1398T:p.K466N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.G1398T:p.K466N;ENSG00000101624:ENST00000262127:exon10:c.G1623T:p.K541N;	0.999903046630525	0.96
18	12678108	C	G	18	12678109	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.G1623C:p.K541N;CEP76:NM_001271989:exon9:c.G1398C:p.K466N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.G1398C:p.K466N;ENSG00000101624:ENST00000262127:exon10:c.G1623C:p.K541N;	0.999984161796599	0.998
18	12678108	C	T	18	12678109	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon10:c.G1623A:p.K541K;CEP76:NM_001271989:exon9:c.G1398A:p.K466K;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.G1398A:p.K466K;ENSG00000101624:ENST00000262127:exon10:c.G1623A:p.K541K;	0.998302656811677	0.954
18	12678109	T	A	18	12678110	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.A1622T:p.K541M;CEP76:NM_001271989:exon9:c.A1397T:p.K466M;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.A1397T:p.K466M;ENSG00000101624:ENST00000262127:exon10:c.A1622T:p.K541M;	0.999738798787367	0.992
18	12678109	T	C	18	12678110	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.A1622G:p.K541R;CEP76:NM_001271989:exon9:c.A1397G:p.K466R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.A1397G:p.K466R;ENSG00000101624:ENST00000262127:exon10:c.A1622G:p.K541R;	0.994940020165583	0.862
18	12678109	T	G	18	12678110	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.A1622C:p.K541T;CEP76:NM_001271989:exon9:c.A1397C:p.K466T;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.A1397C:p.K466T;ENSG00000101624:ENST00000262127:exon10:c.A1622C:p.K541T;	0.995144678493085	0.88
18	12678110	T	A	18	12678111	y	y	exonic	CEP76	stopgain SNV	CEP76:NM_024899:exon10:c.A1621T:p.K541X;CEP76:NM_001271989:exon9:c.A1396T:p.K466X;	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000423709:exon9:c.A1396T:p.K466X;ENSG00000101624:ENST00000262127:exon10:c.A1621T:p.K541X;	0.991408387949748	0.722
18	12678110	T	C	18	12678111	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.A1621G:p.K541E;CEP76:NM_001271989:exon9:c.A1396G:p.K466E;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.A1396G:p.K466E;ENSG00000101624:ENST00000262127:exon10:c.A1621G:p.K541E;	0.00287958832489231	0.04
18	12678110	T	G	18	12678111	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.A1621C:p.K541Q;CEP76:NM_001271989:exon9:c.A1396C:p.K466Q;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.A1396C:p.K466Q;ENSG00000101624:ENST00000262127:exon10:c.A1621C:p.K541Q;	0.00302112944616797	0.03
18	12678440	A	C	18	12678441	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.T1291G:p.Y431D;CEP76:NM_001271989:exon9:c.T1066G:p.Y356D;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.T1066G:p.Y356D;ENSG00000101624:ENST00000587666:exon4:c.T424G:p.Y142D;ENSG00000101624:ENST00000262127:exon10:c.T1291G:p.Y431D;	0.19946018702668	0.36
18	12678440	A	G	18	12678441	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.T1291C:p.Y431H;CEP76:NM_001271989:exon9:c.T1066C:p.Y356H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.T1066C:p.Y356H;ENSG00000101624:ENST00000587666:exon4:c.T424C:p.Y142H;ENSG00000101624:ENST00000262127:exon10:c.T1291C:p.Y431H;	0.238698106160222	0.342
18	12678440	A	T	18	12678441	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.T1291A:p.Y431N;CEP76:NM_001271989:exon9:c.T1066A:p.Y356N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.T1066A:p.Y356N;ENSG00000101624:ENST00000587666:exon4:c.T424A:p.Y142N;ENSG00000101624:ENST00000262127:exon10:c.T1291A:p.Y431N;	0.153214915759345	0.336
18	12678441	C	A	18	12678442	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.G1290T:p.R430S;CEP76:NM_001271989:exon9:c.G1065T:p.R355S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.G1065T:p.R355S;ENSG00000101624:ENST00000587666:exon4:c.G423T:p.R141S;ENSG00000101624:ENST00000262127:exon10:c.G1290T:p.R430S;	0.967056461193056	0.816
18	12678441	C	G	18	12678442	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon10:c.G1290C:p.R430S;CEP76:NM_001271989:exon9:c.G1065C:p.R355S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.G1065C:p.R355S;ENSG00000101624:ENST00000587666:exon4:c.G423C:p.R141S;ENSG00000101624:ENST00000262127:exon10:c.G1290C:p.R430S;	0.87179676125393	0.742
18	12678441	C	T	18	12678442	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon10:c.G1290A:p.R430R;CEP76:NM_001271989:exon9:c.G1065A:p.R355R;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon9:c.G1065A:p.R355R;ENSG00000101624:ENST00000587666:exon4:c.G423A:p.R141R;ENSG00000101624:ENST00000262127:exon10:c.G1290A:p.R430R;	0.00204472459216366	0.224
18	12678442	C	A	18	12678443	y	y	splicing	CEP76(NM_024899:exon11:c.1290-1G>T;NM_001271989:exon10:c.1065-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1285-1G>T;ENST00000262127:exon11:c.1290-1G>T;ENST00000423709:exon10:c.1065-1G>T;ENST00000587666:exon5:c.423-1G>T)	.	.	0.999938422912956	0.928
18	12678442	C	G	18	12678443	y	y	splicing	CEP76(NM_024899:exon11:c.1290-1G>C;NM_001271989:exon10:c.1065-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1285-1G>C;ENST00000262127:exon11:c.1290-1G>C;ENST00000423709:exon10:c.1065-1G>C;ENST00000587666:exon5:c.423-1G>C)	.	.	0.999938422912956	0.942
18	12678442	C	T	18	12678443	y	y	splicing	CEP76(NM_024899:exon11:c.1290-1G>A;NM_001271989:exon10:c.1065-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1285-1G>A;ENST00000262127:exon11:c.1290-1G>A;ENST00000423709:exon10:c.1065-1G>A;ENST00000587666:exon5:c.423-1G>A)	.	.	0.999938422912956	0.918
18	12678443	T	A	18	12678444	y	y	splicing	CEP76(NM_024899:exon11:c.1290-2A>T;NM_001271989:exon10:c.1065-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1285-2A>T;ENST00000262127:exon11:c.1290-2A>T;ENST00000423709:exon10:c.1065-2A>T;ENST00000587666:exon5:c.423-2A>T)	.	.	0.99994568797423	0.938
18	12678443	T	C	18	12678444	y	y	splicing	CEP76(NM_024899:exon11:c.1290-2A>G;NM_001271989:exon10:c.1065-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1285-2A>G;ENST00000262127:exon11:c.1290-2A>G;ENST00000423709:exon10:c.1065-2A>G;ENST00000587666:exon5:c.423-2A>G)	.	.	0.99994568797423	0.944
18	12678443	T	G	18	12678444	y	y	splicing	CEP76(NM_024899:exon11:c.1290-2A>C;NM_001271989:exon10:c.1065-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon11:c.1285-2A>C;ENST00000262127:exon11:c.1290-2A>C;ENST00000423709:exon10:c.1065-2A>C;ENST00000587666:exon5:c.423-2A>C)	.	.	0.99994568797423	0.944
18	12678444	A	C	18	12678445	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.994662016126586	0.69
18	12678444	A	G	18	12678445	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.84607072553601E-5	0.02
18	12678444	A	T	18	12678445	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.88951444177274E-4	0.192
18	12678445	A	C	18	12678446	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.06308608046501E-4	0.038
18	12678445	A	G	18	12678446	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.00078983478867E-5	0.0
18	12678445	A	T	18	12678446	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.86953790774807E-5	0.004
18	12678446	A	C	18	12678447	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.912774488024659	0.504
18	12678446	A	G	18	12678447	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0161610491444683	0.12
18	12678446	A	T	18	12678447	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.837945727195651	0.42
18	12678447	A	C	18	12678448	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0480351040566752	0.45
18	12678447	A	G	18	12678448	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.87930980998678E-5	0.0
18	12678447	A	T	18	12678448	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0532043339923857	0.452
18	12678448	A	C	18	12678449	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.00704772504518E-4	0.146
18	12678448	A	G	18	12678449	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.68166347129233E-5	0.0
18	12678448	A	T	18	12678449	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00574288832838542	0.15
18	12678449	A	C	18	12678450	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00866654624164254	0.336
18	12678449	A	G	18	12678450	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.32949741928285E-5	0.022
18	12678449	A	T	18	12678450	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0617293557919384	0.286
18	12678450	A	C	18	12678451	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998797102997032	0.918
18	12678450	A	G	18	12678451	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.69946435006863E-5	0.002
18	12678450	A	T	18	12678451	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00382415467080244	0.06
18	12678451	T	A	18	12678452	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.21262204478271E-5	0.006
18	12678451	T	C	18	12678452	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.988687674867962	0.892
18	12678451	T	G	18	12678452	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.03208311057555E-6	0.002
18	12678452	T	A	18	12678453	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.17073496000201E-4	0.12
18	12678452	T	C	18	12678453	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.97902552252731E-5	0.018
18	12678452	T	G	18	12678453	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.11553514642116E-5	0.004
18	12678453	A	C	18	12678454	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0145198063852544	0.236
18	12678453	A	G	18	12678454	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.89367593650826E-5	0.006
18	12678453	A	T	18	12678454	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.550134167105168	0.436
18	12680653	A	C	18	12680654	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.89251726068013E-4	0.006
18	12680653	A	G	18	12680654	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.89998480301483E-4	0.0
18	12680653	A	T	18	12680654	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.21273182934119E-4	0.0
18	12680654	A	C	18	12680655	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.14943646972724E-5	0.0
18	12680654	A	G	18	12680655	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.14943646972724E-5	0.0
18	12680654	A	T	18	12680655	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.77547636659262E-5	0.0
18	12680655	A	C	18	12680656	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.246564745929669	0.474
18	12680655	A	G	18	12680656	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.866513582346727	0.67
18	12680655	A	T	18	12680656	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.333609666275917	0.566
18	12680656	C	A	18	12680657	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.997895041374488	0.912
18	12680656	C	G	18	12680657	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999736701200951	0.834
18	12680656	C	T	18	12680657	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999244733259943	0.962
18	12680657	T	A	18	12680658	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.31126665632213	0.306
18	12680657	T	C	18	12680658	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.196917424754567	0.366
18	12680657	T	G	18	12680658	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.344009024900914	0.28
18	12680658	A	C	18	12680659	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.14887956334336E-4	0.118
18	12680658	A	G	18	12680659	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.64302557319394E-5	0.02
18	12680658	A	T	18	12680659	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.09998283954861E-4	0.11
18	12680659	A	C	18	12680660	y	y	splicing	CEP76(NM_024899:exon10:c.1289+2T>G;NM_001271989:exon9:c.1064+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1284+2T>G;ENST00000262127:exon10:c.1289+2T>G;ENST00000423709:exon9:c.1064+2T>G;ENST00000587666:exon4:c.422+2T>G)	.	.	0.999981808176352	0.92
18	12680659	A	G	18	12680660	y	y	splicing	CEP76(NM_024899:exon10:c.1289+2T>C;NM_001271989:exon9:c.1064+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1284+2T>C;ENST00000262127:exon10:c.1289+2T>C;ENST00000423709:exon9:c.1064+2T>C;ENST00000587666:exon4:c.422+2T>C)	.	.	0.993058197519409	0.57
18	12680659	A	T	18	12680660	y	y	splicing	CEP76(NM_024899:exon10:c.1289+2T>A;NM_001271989:exon9:c.1064+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1284+2T>A;ENST00000262127:exon10:c.1289+2T>A;ENST00000423709:exon9:c.1064+2T>A;ENST00000587666:exon4:c.422+2T>A)	.	.	0.999981808176352	0.92
18	12680660	C	A	18	12680661	y	y	splicing	CEP76(NM_024899:exon10:c.1289+1G>T;NM_001271989:exon9:c.1064+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1284+1G>T;ENST00000262127:exon10:c.1289+1G>T;ENST00000423709:exon9:c.1064+1G>T;ENST00000587666:exon4:c.422+1G>T)	.	.	0.999986675681007	0.932
18	12680660	C	G	18	12680661	y	y	splicing	CEP76(NM_024899:exon10:c.1289+1G>C;NM_001271989:exon9:c.1064+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1284+1G>C;ENST00000262127:exon10:c.1289+1G>C;ENST00000423709:exon9:c.1064+1G>C;ENST00000587666:exon4:c.422+1G>C)	.	.	0.999986675681007	0.932
18	12680660	C	T	18	12680661	y	y	splicing	CEP76(NM_024899:exon10:c.1289+1G>A;NM_001271989:exon9:c.1064+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1284+1G>A;ENST00000262127:exon10:c.1289+1G>A;ENST00000423709:exon9:c.1064+1G>A;ENST00000587666:exon4:c.422+1G>A)	.	.	0.999986675681007	0.932
18	12680661	C	A	18	12680662	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1289T:p.R430M;CEP76:NM_001271989:exon8:c.G1064T:p.R355M;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G1064T:p.R355M;ENSG00000101624:ENST00000587666:exon3:c.G422T:p.R141M;ENSG00000101624:ENST00000262127:exon9:c.G1289T:p.R430M;	0.999990180083496	1.0
18	12680661	C	G	18	12680662	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1289C:p.R430T;CEP76:NM_001271989:exon8:c.G1064C:p.R355T;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G1064C:p.R355T;ENSG00000101624:ENST00000587666:exon3:c.G422C:p.R141T;ENSG00000101624:ENST00000262127:exon9:c.G1289C:p.R430T;	0.999998312535482	0.998
18	12680661	C	T	18	12680662	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1289A:p.R430K;CEP76:NM_001271989:exon8:c.G1064A:p.R355K;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G1064A:p.R355K;ENSG00000101624:ENST00000587666:exon3:c.G422A:p.R141K;ENSG00000101624:ENST00000262127:exon9:c.G1289A:p.R430K;	0.999977845676574	1.0
18	12680662	T	A	18	12680663	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.A1288T:p.R430W;CEP76:NM_001271989:exon8:c.A1063T:p.R355W;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.A1063T:p.R355W;ENSG00000101624:ENST00000587666:exon3:c.A421T:p.R141W;ENSG00000101624:ENST00000262127:exon9:c.A1288T:p.R430W;	0.999441806959222	0.98
18	12680662	T	C	18	12680663	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.A1288G:p.R430G;CEP76:NM_001271989:exon8:c.A1063G:p.R355G;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.A1063G:p.R355G;ENSG00000101624:ENST00000587666:exon3:c.A421G:p.R141G;ENSG00000101624:ENST00000262127:exon9:c.A1288G:p.R430G;	0.999807455791151	0.996
18	12680662	T	G	18	12680663	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon9:c.A1288C:p.R430R;CEP76:NM_001271989:exon8:c.A1063C:p.R355R;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.A1063C:p.R355R;ENSG00000101624:ENST00000587666:exon3:c.A421C:p.R141R;ENSG00000101624:ENST00000262127:exon9:c.A1288C:p.R430R;	0.99053805967562	0.886
18	12680663	G	A	18	12680664	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon9:c.C1287T:p.H429H;CEP76:NM_001271989:exon8:c.C1062T:p.H354H;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.C1062T:p.H354H;ENSG00000101624:ENST00000587666:exon3:c.C420T:p.H140H;ENSG00000101624:ENST00000262127:exon9:c.C1287T:p.H429H;	0.030812963674426	0.314
18	12680663	G	C	18	12680664	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.C1287G:p.H429Q;CEP76:NM_001271989:exon8:c.C1062G:p.H354Q;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.C1062G:p.H354Q;ENSG00000101624:ENST00000587666:exon3:c.C420G:p.H140Q;ENSG00000101624:ENST00000262127:exon9:c.C1287G:p.H429Q;	9.03790300780101E-5	0.022
18	12680663	G	T	18	12680664	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.C1287A:p.H429Q;CEP76:NM_001271989:exon8:c.C1062A:p.H354Q;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.C1062A:p.H354Q;ENSG00000101624:ENST00000587666:exon3:c.C420A:p.H140Q;ENSG00000101624:ENST00000262127:exon9:c.C1287A:p.H429Q;	4.56951523712999E-5	0.036
18	12680826	C	A	18	12680827	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1124T:p.G375V;CEP76:NM_001271989:exon8:c.G899T:p.G300V;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G899T:p.G300V;ENSG00000101624:ENST00000587666:exon3:c.G257T:p.G86V;ENSG00000101624:ENST00000262127:exon9:c.G1124T:p.G375V;	0.979958633315729	0.898
18	12680826	C	G	18	12680827	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1124C:p.G375A;CEP76:NM_001271989:exon8:c.G899C:p.G300A;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G899C:p.G300A;ENSG00000101624:ENST00000587666:exon3:c.G257C:p.G86A;ENSG00000101624:ENST00000262127:exon9:c.G1124C:p.G375A;	0.977235717269475	0.866
18	12680826	C	T	18	12680827	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1124A:p.G375D;CEP76:NM_001271989:exon8:c.G899A:p.G300D;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G899A:p.G300D;ENSG00000101624:ENST00000587666:exon3:c.G257A:p.G86D;ENSG00000101624:ENST00000262127:exon9:c.G1124A:p.G375D;	0.975637871248824	0.862
18	12680827	C	A	18	12680828	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1123T:p.G375C;CEP76:NM_001271989:exon8:c.G898T:p.G300C;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G898T:p.G300C;ENSG00000101624:ENST00000587666:exon3:c.G256T:p.G86C;ENSG00000101624:ENST00000262127:exon9:c.G1123T:p.G375C;	0.999654882885275	0.97
18	12680827	C	G	18	12680828	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1123C:p.G375R;CEP76:NM_001271989:exon8:c.G898C:p.G300R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G898C:p.G300R;ENSG00000101624:ENST00000587666:exon3:c.G256C:p.G86R;ENSG00000101624:ENST00000262127:exon9:c.G1123C:p.G375R;	0.999584773335858	0.956
18	12680827	C	T	18	12680828	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon9:c.G1123A:p.G375S;CEP76:NM_001271989:exon8:c.G898A:p.G300S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon8:c.G898A:p.G300S;ENSG00000101624:ENST00000587666:exon3:c.G256A:p.G86S;ENSG00000101624:ENST00000262127:exon9:c.G1123A:p.G375S;	0.998545177624797	0.918
18	12680828	C	A	18	12680829	y	y	splicing	CEP76(NM_024899:exon10:c.1123-1G>T;NM_001271989:exon9:c.898-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1118-1G>T;ENST00000262127:exon10:c.1123-1G>T;ENST00000423709:exon9:c.898-1G>T;ENST00000587666:exon4:c.256-1G>T)	.	.	0.999986675681007	0.93
18	12680828	C	G	18	12680829	y	y	splicing	CEP76(NM_024899:exon10:c.1123-1G>C;NM_001271989:exon9:c.898-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1118-1G>C;ENST00000262127:exon10:c.1123-1G>C;ENST00000423709:exon9:c.898-1G>C;ENST00000587666:exon4:c.256-1G>C)	.	.	0.999986675681007	0.93
18	12680828	C	T	18	12680829	y	y	splicing	CEP76(NM_024899:exon10:c.1123-1G>A;NM_001271989:exon9:c.898-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1118-1G>A;ENST00000262127:exon10:c.1123-1G>A;ENST00000423709:exon9:c.898-1G>A;ENST00000587666:exon4:c.256-1G>A)	.	.	0.999986675681007	0.93
18	12680829	T	A	18	12680830	y	y	splicing	CEP76(NM_024899:exon10:c.1123-2A>T;NM_001271989:exon9:c.898-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1118-2A>T;ENST00000262127:exon10:c.1123-2A>T;ENST00000423709:exon9:c.898-2A>T;ENST00000587666:exon4:c.256-2A>T)	.	.	0.999988247793601	0.926
18	12680829	T	C	18	12680830	y	y	splicing	CEP76(NM_024899:exon10:c.1123-2A>G;NM_001271989:exon9:c.898-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1118-2A>G;ENST00000262127:exon10:c.1123-2A>G;ENST00000423709:exon9:c.898-2A>G;ENST00000587666:exon4:c.256-2A>G)	.	.	0.999978952611685	0.928
18	12680829	T	G	18	12680830	y	y	splicing	CEP76(NM_024899:exon10:c.1123-2A>C;NM_001271989:exon9:c.898-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon10:c.1118-2A>C;ENST00000262127:exon10:c.1123-2A>C;ENST00000423709:exon9:c.898-2A>C;ENST00000587666:exon4:c.256-2A>C)	.	.	0.999978952611685	0.928
18	12680830	G	A	18	12680831	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.54971232016862E-4	0.024
18	12680830	G	C	18	12680831	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.994224069360798	0.818
18	12680830	G	T	18	12680831	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.277137477314808	0.394
18	12680831	G	A	18	12680832	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.57663653304061E-5	0.0
18	12680831	G	C	18	12680832	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.57663653304061E-5	0.0
18	12680831	G	T	18	12680832	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.57663653304061E-5	0.0
18	12680832	A	C	18	12680833	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.678026290010758	0.332
18	12680832	A	G	18	12680833	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.22212738029702E-4	0.02
18	12680832	A	T	18	12680833	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.420664341378279	0.356
18	12680833	A	C	18	12680834	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.589566638500289	0.368
18	12680833	A	G	18	12680834	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.88391260081287E-5	0.006
18	12680833	A	T	18	12680834	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.224586100748252	0.298
18	12680834	G	A	18	12680835	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.07529173958612E-5	0.002
18	12680834	G	C	18	12680835	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.1263096317084E-4	0.032
18	12680834	G	T	18	12680835	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.11870358407711E-4	0.046
18	12680835	A	C	18	12680836	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999950095025518	0.996
18	12680835	A	G	18	12680836	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.73348344261804E-5	0.006
18	12680835	A	T	18	12680836	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0331996815836033	0.132
18	12680836	T	A	18	12680837	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.87918371151799E-5	0.0
18	12680836	T	C	18	12680837	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.02517984979189E-5	0.0
18	12680836	T	G	18	12680837	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.6185428605304E-5	0.0
18	12680837	A	C	18	12680838	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0188182646886386	0.362
18	12680837	A	G	18	12680838	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.11141689738795E-4	0.004
18	12680837	A	T	18	12680838	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0558462760882356	0.302
18	12680838	A	C	18	12680839	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.677991208068094	0.484
18	12680838	A	G	18	12680839	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0106018994463358	0.128
18	12680838	A	T	18	12680839	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.613035753797717	0.502
18	12680839	A	C	18	12680840	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.982835730282523	0.958
18	12680839	A	G	18	12680840	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.06052693366303E-5	0.0
18	12680839	A	T	18	12680840	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00475726460598157	0.154
18	12686253	T	A	18	12686254	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	3.44312574922614E-5	0.0
18	12686253	T	C	18	12686254	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.48746024250651E-5	0.0
18	12686253	T	G	18	12686254	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	4.08734463344448E-5	0.0
18	12686254	A	C	18	12686255	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	6.38420069100712E-5	0.0
18	12686254	A	G	18	12686255	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	7.54782190019833E-5	0.0
18	12686254	A	T	18	12686255	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	5.4842896081474E-4	0.09
18	12686255	T	A	18	12686256	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.54998022941891E-5	0.114
18	12686255	T	C	18	12686256	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	7.93517706007463E-5	0.0
18	12686255	T	G	18	12686256	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	2.18691179124606E-4	0.048
18	12686256	A	C	18	12686257	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	3.53238777075538E-5	0.022
18	12686256	A	G	18	12686257	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.12862932207919E-6	0.0
18	12686256	A	T	18	12686257	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	4.42456077100832E-5	0.012
18	12686257	A	C	18	12686258	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.02544807279357E-4	0.022
18	12686257	A	G	18	12686258	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.4592444776623E-4	0.008
18	12686257	A	T	18	12686258	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.0407689826904E-4	0.06
18	12686258	T	A	18	12686259	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	0.999936066492742	0.976
18	12686258	T	C	18	12686259	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	0.999615939205654	0.936
18	12686258	T	G	18	12686259	y	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	0.999892746105413	0.974
18	12686259	A	C	18	12686260	y	y	splicing	CEP76(NM_024899:exon9:c.1122+2T>G;NM_001271989:exon8:c.897+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.1117+2T>G;ENST00000262127:exon9:c.1122+2T>G;ENST00000423709:exon8:c.897+2T>G;ENST00000587666:exon3:c.255+2T>G)	.	.	0.999988247793601	0.948
18	12686259	A	G	18	12686260	y	y	splicing	CEP76(NM_024899:exon9:c.1122+2T>C;NM_001271989:exon8:c.897+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.1117+2T>C;ENST00000262127:exon9:c.1122+2T>C;ENST00000423709:exon8:c.897+2T>C;ENST00000587666:exon3:c.255+2T>C)	.	.	0.993998724689378	0.666
18	12686259	A	T	18	12686260	y	y	splicing	CEP76(NM_024899:exon9:c.1122+2T>A;NM_001271989:exon8:c.897+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.1117+2T>A;ENST00000262127:exon9:c.1122+2T>A;ENST00000423709:exon8:c.897+2T>A;ENST00000587666:exon3:c.255+2T>A)	.	.	0.999988247793601	0.948
18	12686260	C	A	18	12686261	y	y	splicing	CEP76(NM_024899:exon9:c.1122+1G>T;NM_001271989:exon8:c.897+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.1117+1G>T;ENST00000262127:exon9:c.1122+1G>T;ENST00000423709:exon8:c.897+1G>T;ENST00000587666:exon3:c.255+1G>T)	.	.	0.999989072007339	0.946
18	12686260	C	G	18	12686261	y	y	splicing	CEP76(NM_024899:exon9:c.1122+1G>C;NM_001271989:exon8:c.897+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.1117+1G>C;ENST00000262127:exon9:c.1122+1G>C;ENST00000423709:exon8:c.897+1G>C;ENST00000587666:exon3:c.255+1G>C)	.	.	0.999989072007339	0.946
18	12686260	C	T	18	12686261	y	y	splicing	CEP76(NM_024899:exon9:c.1122+1G>A;NM_001271989:exon8:c.897+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.1117+1G>A;ENST00000262127:exon9:c.1122+1G>A;ENST00000423709:exon8:c.897+1G>A;ENST00000587666:exon3:c.255+1G>A)	.	.	0.999989072007339	0.946
18	12686261	C	A	18	12686262	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.G1122T:p.K374N;CEP76:NM_001271989:exon7:c.G897T:p.K299N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.G897T:p.K299N;ENSG00000101624:ENST00000587666:exon2:c.G255T:p.K85N;ENSG00000101624:ENST00000262127:exon8:c.G1122T:p.K374N;	0.999990641641815	1.0
18	12686261	C	G	18	12686262	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.G1122C:p.K374N;CEP76:NM_001271989:exon7:c.G897C:p.K299N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.G897C:p.K299N;ENSG00000101624:ENST00000587666:exon2:c.G255C:p.K85N;ENSG00000101624:ENST00000262127:exon8:c.G1122C:p.K374N;	0.999997007324834	1.0
18	12686261	C	T	18	12686262	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon8:c.G1122A:p.K374K;CEP76:NM_001271989:exon7:c.G897A:p.K299K;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.G897A:p.K299K;ENSG00000101624:ENST00000587666:exon2:c.G255A:p.K85K;ENSG00000101624:ENST00000262127:exon8:c.G1122A:p.K374K;	0.999978322197301	1.0
18	12686262	T	A	18	12686263	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.A1121T:p.K374M;CEP76:NM_001271989:exon7:c.A896T:p.K299M;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.A896T:p.K299M;ENSG00000101624:ENST00000587666:exon2:c.A254T:p.K85M;ENSG00000101624:ENST00000262127:exon8:c.A1121T:p.K374M;	0.999982866079262	1.0
18	12686262	T	C	18	12686263	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.A1121G:p.K374R;CEP76:NM_001271989:exon7:c.A896G:p.K299R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.A896G:p.K299R;ENSG00000101624:ENST00000587666:exon2:c.A254G:p.K85R;ENSG00000101624:ENST00000262127:exon8:c.A1121G:p.K374R;	0.999530601496329	0.992
18	12686262	T	G	18	12686263	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.A1121C:p.K374T;CEP76:NM_001271989:exon7:c.A896C:p.K299T;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.A896C:p.K299T;ENSG00000101624:ENST00000587666:exon2:c.A254C:p.K85T;ENSG00000101624:ENST00000262127:exon8:c.A1121C:p.K374T;	0.999964328794222	1.0
18	12686263	T	A	18	12686264	y	y	exonic	CEP76	stopgain SNV	CEP76:NM_024899:exon8:c.A1120T:p.K374X;CEP76:NM_001271989:exon7:c.A895T:p.K299X;	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000423709:exon7:c.A895T:p.K299X;ENSG00000101624:ENST00000587666:exon2:c.A253T:p.K85X;ENSG00000101624:ENST00000262127:exon8:c.A1120T:p.K374X;	0.999054695936484	0.888
18	12686263	T	C	18	12686264	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.A1120G:p.K374E;CEP76:NM_001271989:exon7:c.A895G:p.K299E;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.A895G:p.K299E;ENSG00000101624:ENST00000587666:exon2:c.A253G:p.K85E;ENSG00000101624:ENST00000262127:exon8:c.A1120G:p.K374E;	0.551799337419177	0.446
18	12686263	T	G	18	12686264	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.A1120C:p.K374Q;CEP76:NM_001271989:exon7:c.A895C:p.K299Q;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.A895C:p.K299Q;ENSG00000101624:ENST00000587666:exon2:c.A253C:p.K85Q;ENSG00000101624:ENST00000262127:exon8:c.A1120C:p.K374Q;	0.322835658352936	0.492
18	12686448	T	A	18	12686449	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.A935T:p.D312V;CEP76:NM_001271989:exon7:c.A710T:p.D237V;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.A710T:p.D237V;ENSG00000101624:ENST00000587666:exon2:c.A68T:p.D23V;ENSG00000101624:ENST00000262127:exon8:c.A935T:p.D312V;	0.745942862027978	0.73
18	12686448	T	C	18	12686449	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.A935G:p.D312G;CEP76:NM_001271989:exon7:c.A710G:p.D237G;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.A710G:p.D237G;ENSG00000101624:ENST00000587666:exon2:c.A68G:p.D23G;ENSG00000101624:ENST00000262127:exon8:c.A935G:p.D312G;	0.797492421347812	0.688
18	12686448	T	G	18	12686449	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.A935C:p.D312A;CEP76:NM_001271989:exon7:c.A710C:p.D237A;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.A710C:p.D237A;ENSG00000101624:ENST00000587666:exon2:c.A68C:p.D23A;ENSG00000101624:ENST00000262127:exon8:c.A935C:p.D312A;	0.772173954893879	0.772
18	12686449	C	A	18	12686450	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.G934T:p.D312Y;CEP76:NM_001271989:exon7:c.G709T:p.D237Y;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.G709T:p.D237Y;ENSG00000101624:ENST00000587666:exon2:c.G67T:p.D23Y;ENSG00000101624:ENST00000262127:exon8:c.G934T:p.D312Y;	0.999786646268696	0.94
18	12686449	C	G	18	12686450	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.G934C:p.D312H;CEP76:NM_001271989:exon7:c.G709C:p.D237H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.G709C:p.D237H;ENSG00000101624:ENST00000587666:exon2:c.G67C:p.D23H;ENSG00000101624:ENST00000262127:exon8:c.G934C:p.D312H;	0.99972395367402	0.912
18	12686449	C	T	18	12686450	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon8:c.G934A:p.D312N;CEP76:NM_001271989:exon7:c.G709A:p.D237N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon7:c.G709A:p.D237N;ENSG00000101624:ENST00000587666:exon2:c.G67A:p.D23N;ENSG00000101624:ENST00000262127:exon8:c.G934A:p.D312N;	0.998507205416364	0.86
18	12686450	C	A	18	12686451	y	y	splicing	CEP76(NM_024899:exon9:c.934-1G>T;NM_001271989:exon8:c.709-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.929-1G>T;ENST00000262127:exon9:c.934-1G>T;ENST00000423709:exon8:c.709-1G>T;ENST00000587666:exon3:c.67-1G>T;ENST00000593250:exon10:c.1036-1G>T)	.	.	0.999989072007339	0.934
18	12686450	C	G	18	12686451	y	y	splicing	CEP76(NM_024899:exon9:c.934-1G>C;NM_001271989:exon8:c.709-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.929-1G>C;ENST00000262127:exon9:c.934-1G>C;ENST00000423709:exon8:c.709-1G>C;ENST00000587666:exon3:c.67-1G>C;ENST00000593250:exon10:c.1036-1G>C)	.	.	0.999989072007339	0.934
18	12686450	C	T	18	12686451	y	y	splicing	CEP76(NM_024899:exon9:c.934-1G>A;NM_001271989:exon8:c.709-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.929-1G>A;ENST00000262127:exon9:c.934-1G>A;ENST00000423709:exon8:c.709-1G>A;ENST00000587666:exon3:c.67-1G>A;ENST00000593250:exon10:c.1036-1G>A)	.	.	0.999989072007339	0.934
18	12686451	T	A	18	12686452	y	y	splicing	CEP76(NM_024899:exon9:c.934-2A>T;NM_001271989:exon8:c.709-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.929-2A>T;ENST00000262127:exon9:c.934-2A>T;ENST00000423709:exon8:c.709-2A>T;ENST00000587666:exon3:c.67-2A>T;ENST00000593250:exon10:c.1036-2A>T)	.	.	0.999988247793601	0.93
18	12686451	T	C	18	12686452	y	y	splicing	CEP76(NM_024899:exon9:c.934-2A>G;NM_001271989:exon8:c.709-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.929-2A>G;ENST00000262127:exon9:c.934-2A>G;ENST00000423709:exon8:c.709-2A>G;ENST00000587666:exon3:c.67-2A>G;ENST00000593250:exon10:c.1036-2A>G)	.	.	0.999988247793601	0.93
18	12686451	T	G	18	12686452	y	y	splicing	CEP76(NM_024899:exon9:c.934-2A>C;NM_001271989:exon8:c.709-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon9:c.929-2A>C;ENST00000262127:exon9:c.934-2A>C;ENST00000423709:exon8:c.709-2A>C;ENST00000587666:exon3:c.67-2A>C;ENST00000593250:exon10:c.1036-2A>C)	.	.	0.999988247793601	0.93
18	12686452	A	C	18	12686453	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.931635382995258	0.608
18	12686452	A	G	18	12686453	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.53039254699361E-5	0.004
18	12686452	A	T	18	12686453	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0348889247438024	0.262
18	12686453	G	A	18	12686454	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.55820208760058E-4	0.002
18	12686453	G	C	18	12686454	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.51785613878177E-5	0.0
18	12686453	G	T	18	12686454	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.08205600593836E-4	0.0
18	12686454	G	A	18	12686455	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.18050889873754E-4	0.004
18	12686454	G	C	18	12686455	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00272594008210497	0.162
18	12686454	G	T	18	12686455	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00108596684146369	0.074
18	12686455	G	A	18	12686456	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.59720508771358E-5	0.032
18	12686455	G	C	18	12686456	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.1716513316923E-4	0.096
18	12686455	G	T	18	12686456	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.81210038849004E-4	0.09
18	12686456	A	C	18	12686457	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.51329321357823E-4	0.04
18	12686456	A	G	18	12686457	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.18510546631951E-5	0.0
18	12686456	A	T	18	12686457	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.68639644336591E-4	0.09
18	12686457	A	C	18	12686458	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.21649089306192E-5	0.052
18	12686457	A	G	18	12686458	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.38690475037265E-4	0.0
18	12686457	A	T	18	12686458	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0010049037076844	0.04
18	12686458	A	C	18	12686459	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.17464492577647E-4	0.076
18	12686458	A	G	18	12686459	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.52484894015167E-5	0.004
18	12686458	A	T	18	12686459	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.09925099536536E-4	0.036
18	12686459	A	C	18	12686460	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.80619133049491E-4	0.234
18	12686459	A	G	18	12686460	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.22824785950355E-4	0.012
18	12686459	A	T	18	12686460	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.95863643405174E-4	0.136
18	12686460	G	A	18	12686461	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.01243025682001E-5	0.0
18	12686460	G	C	18	12686461	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.11450831924577E-5	0.0
18	12686460	G	T	18	12686461	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.6779674407976E-5	0.014
18	12686461	G	A	18	12686462	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.01243025682001E-5	0.0
18	12686461	G	C	18	12686462	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.29919191247739E-5	0.014
18	12686461	G	T	18	12686462	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.0268068866751E-5	0.006
18	12686749	T	A	18	12686750	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000586445:exon1:c.T79A:p.W27R;	1.06407420733308E-4	0.002
18	12686749	T	C	18	12686750	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000586445:exon1:c.T79C:p.W27R;	5.85455578184536E-5	0.004
18	12686749	T	G	18	12686750	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000586445:exon1:c.T79G:p.W27G;	5.85455578184536E-5	0.004
18	12686750	G	A	18	12686751	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	stopgain SNV	ENSG00000128789:ENST00000586445:exon1:c.G80A:p.W27X;	4.7749166663215E-5	0.0
18	12686750	G	C	18	12686751	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000586445:exon1:c.G80C:p.W27S;	2.01163773767764E-5	0.0
18	12686750	G	T	18	12686751	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000586445:exon1:c.G80T:p.W27L;	4.19067828697559E-5	0.0
18	12686751	G	A	18	12686752	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	stopgain SNV	ENSG00000128789:ENST00000586445:exon1:c.G81A:p.W27X;	4.68952365742707E-5	0.002
18	12686751	G	C	18	12686752	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000586445:exon1:c.G81C:p.W27C;	6.270921211638E-5	0.016
18	12686751	G	T	18	12686752	n	y	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000586445:exon1:c.G81T:p.W27C;	4.68952365742707E-5	0.014
18	12686752	G	A	18	12686753	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000128789(ENST00000586445:exon1:c.81+1G>A)	.	.	6.13798544938766E-5	0.096
18	12686752	G	C	18	12686753	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000128789(ENST00000586445:exon1:c.81+1G>C)	.	.	6.13798544938766E-5	0.03
18	12686752	G	T	18	12686753	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000128789(ENST00000586445:exon1:c.81+1G>T)	.	.	6.13798544938766E-5	0.034
18	12686753	T	A	18	12686754	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000128789(ENST00000586445:exon1:c.81+2T>A)	.	.	2.9956701379798E-5	0.014
18	12686753	T	C	18	12686754	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000128789(ENST00000586445:exon1:c.81+2T>C)	.	.	4.00589059629323E-5	0.008
18	12686753	T	G	18	12686754	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000128789(ENST00000586445:exon1:c.81+2T>G)	.	.	4.00589059629323E-5	0.008
18	12686754	A	C	18	12686755	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.84677156046253E-5	0.0
18	12686754	A	G	18	12686755	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.84677156046253E-5	0.0
18	12686754	A	T	18	12686755	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.84677156046253E-5	0.0
18	12686755	G	A	18	12686756	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.270921211638E-5	0.084
18	12686755	G	C	18	12686756	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.270921211638E-5	0.006
18	12686755	G	T	18	12686756	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.270921211638E-5	0.01
18	12686756	G	A	18	12686757	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.13951347297017E-5	0.002
18	12686756	G	C	18	12686757	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.13951347297017E-5	0.002
18	12686756	G	T	18	12686757	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.13951347297017E-5	0.0
18	12686757	T	A	18	12686758	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.07620641825897E-5	0.0
18	12686757	T	C	18	12686758	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.07620641825897E-5	0.0
18	12686757	T	G	18	12686758	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.07620641825897E-5	0.0
18	12686758	A	C	18	12686759	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.0180149904064E-5	0.006
18	12686758	A	G	18	12686759	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.0180149904064E-5	0.006
18	12686758	A	T	18	12686759	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.256915070725E-5	0.008
18	12686759	T	A	18	12686760	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.8255501566349E-5	0.004
18	12686759	T	C	18	12686760	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.76092372094667E-5	0.002
18	12686759	T	G	18	12686760	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.76092372094667E-5	0.004
18	12691350	T	A	18	12691351	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.A566T:p.K189I;	0.0106594606635347	0.034
18	12691350	T	C	18	12691351	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.A566G:p.K189R;	0.00849652026428941	0.068
18	12691350	T	G	18	12691351	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.A566C:p.K189T;	0.0106594606635347	0.022
18	12691351	T	A	18	12691352	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000585751:exon4:c.A565T:p.K189X;	0.00168168852755913	0.026
18	12691351	T	C	18	12691352	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.A565G:p.K189E;	6.61966685341053E-4	0.014
18	12691351	T	G	18	12691352	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.A565C:p.K189Q;	9.00242634543516E-4	0.004
18	12691352	A	C	18	12691353	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T564G:p.C188W;	0.974260588298894	0.87
18	12691352	A	G	18	12691353	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T564C:p.C188C;	0.989808494874188	0.858
18	12691352	A	T	18	12691353	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000585751:exon4:c.T564A:p.C188X;	0.991648118626478	0.782
18	12691353	C	A	18	12691354	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.G563T:p.C188F;	0.999909852506827	0.97
18	12691353	C	G	18	12691354	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.G563C:p.C188S;	0.999973049774624	0.994
18	12691353	C	T	18	12691354	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.G563A:p.C188Y;	0.999965132607014	0.998
18	12691354	A	C	18	12691355	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T562G:p.C188G;	1.23940420460877E-4	0.0
18	12691354	A	G	18	12691355	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T562C:p.C188R;	2.79900420645664E-4	0.076
18	12691354	A	T	18	12691355	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T562A:p.C188S;	6.11779010324849E-5	0.012
18	12691355	A	C	18	12691356	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T561G:p.V187V;	4.98628000924432E-5	0.042
18	12691355	A	G	18	12691356	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T561C:p.V187V;	0.00239347534209857	0.206
18	12691355	A	T	18	12691356	y	n	intronic	CEP76;PSMG2	.	.	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T561A:p.V187V;	1.35463202358256E-4	0.02
18	12691356	A	C	18	12691357	y	n	splicing	CEP76(NM_024899:exon8:c.933+2T>G;NM_001271989:exon7:c.708+2T>G)	.	.	exonic;splicing	ENSG00000101624;ENSG00000101624(ENST00000590143:exon8:c.928+2T>G;ENST00000262127:exon8:c.933+2T>G;ENST00000423709:exon7:c.708+2T>G;ENST00000593250:exon9:c.1035+2T>G)	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T560G:p.V187G;	0.999981808176352	0.924
18	12691356	A	G	18	12691357	y	n	splicing	CEP76(NM_024899:exon8:c.933+2T>C;NM_001271989:exon7:c.708+2T>C)	.	.	exonic;splicing	ENSG00000101624;ENSG00000101624(ENST00000590143:exon8:c.928+2T>C;ENST00000262127:exon8:c.933+2T>C;ENST00000423709:exon7:c.708+2T>C;ENST00000593250:exon9:c.1035+2T>C)	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T560C:p.V187A;	0.993058197519409	0.572
18	12691356	A	T	18	12691357	y	n	splicing	CEP76(NM_024899:exon8:c.933+2T>A;NM_001271989:exon7:c.708+2T>A)	.	.	exonic;splicing	ENSG00000101624;ENSG00000101624(ENST00000590143:exon8:c.928+2T>A;ENST00000262127:exon8:c.933+2T>A;ENST00000423709:exon7:c.708+2T>A;ENST00000593250:exon9:c.1035+2T>A)	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.T560A:p.V187D;	0.999981808176352	0.924
18	12691357	C	A	18	12691358	y	n	splicing	CEP76(NM_024899:exon8:c.933+1G>T;NM_001271989:exon7:c.708+1G>T)	.	.	exonic;splicing	ENSG00000101624;ENSG00000101624(ENST00000590143:exon8:c.928+1G>T;ENST00000262127:exon8:c.933+1G>T;ENST00000423709:exon7:c.708+1G>T;ENST00000593250:exon9:c.1035+1G>T)	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.G559T:p.V187F;	0.999989072007339	0.938
18	12691357	C	G	18	12691358	y	n	splicing	CEP76(NM_024899:exon8:c.933+1G>C;NM_001271989:exon7:c.708+1G>C)	.	.	exonic;splicing	ENSG00000101624;ENSG00000101624(ENST00000590143:exon8:c.928+1G>C;ENST00000262127:exon8:c.933+1G>C;ENST00000423709:exon7:c.708+1G>C;ENST00000593250:exon9:c.1035+1G>C)	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.G559C:p.V187L;	0.999989072007339	0.938
18	12691357	C	T	18	12691358	y	n	splicing	CEP76(NM_024899:exon8:c.933+1G>A;NM_001271989:exon7:c.708+1G>A)	.	.	exonic;splicing	ENSG00000101624;ENSG00000101624(ENST00000590143:exon8:c.928+1G>A;ENST00000262127:exon8:c.933+1G>A;ENST00000423709:exon7:c.708+1G>A;ENST00000593250:exon9:c.1035+1G>A)	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon4:c.G559A:p.V187I;	0.999989072007339	0.938
18	12691358	C	A	18	12691359	y	n	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.G933T:p.Q311H;CEP76:NM_001271989:exon6:c.G708T:p.Q236H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.G708T:p.Q236H;ENSG00000101624:ENST00000585751:exon4:c.G558T:p.Q186H;ENSG00000101624:ENST00000262127:exon7:c.G933T:p.Q311H;	0.999988779970682	1.0
18	12691358	C	G	18	12691359	y	n	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.G933C:p.Q311H;CEP76:NM_001271989:exon6:c.G708C:p.Q236H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.G708C:p.Q236H;ENSG00000101624:ENST00000585751:exon4:c.G558C:p.Q186H;ENSG00000101624:ENST00000262127:exon7:c.G933C:p.Q311H;	0.999996160237948	1.0
18	12691358	C	T	18	12691359	y	n	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon7:c.G933A:p.Q311Q;CEP76:NM_001271989:exon6:c.G708A:p.Q236Q;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.G708A:p.Q236Q;ENSG00000101624:ENST00000585751:exon4:c.G558A:p.Q186Q;ENSG00000101624:ENST00000262127:exon7:c.G933A:p.Q311Q;	0.999972863636317	1.0
18	12691359	T	A	18	12691360	y	n	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.A932T:p.Q311L;CEP76:NM_001271989:exon6:c.A707T:p.Q236L;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.A707T:p.Q236L;ENSG00000101624:ENST00000585751:exon4:c.A557T:p.Q186L;ENSG00000101624:ENST00000262127:exon7:c.A932T:p.Q311L;	0.999937516910199	1.0
18	12691359	T	C	18	12691360	y	n	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.A932G:p.Q311R;CEP76:NM_001271989:exon6:c.A707G:p.Q236R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.A707G:p.Q236R;ENSG00000101624:ENST00000585751:exon4:c.A557G:p.Q186R;ENSG00000101624:ENST00000262127:exon7:c.A932G:p.Q311R;	0.999927264054704	0.982
18	12691359	T	G	18	12691360	y	n	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.A932C:p.Q311P;CEP76:NM_001271989:exon6:c.A707C:p.Q236P;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.A707C:p.Q236P;ENSG00000101624:ENST00000585751:exon4:c.A557C:p.Q186P;ENSG00000101624:ENST00000262127:exon7:c.A932C:p.Q311P;	0.999935145140948	0.996
18	12691360	G	A	18	12691361	y	n	exonic	CEP76	stopgain SNV	CEP76:NM_024899:exon7:c.C931T:p.Q311X;CEP76:NM_001271989:exon6:c.C706T:p.Q236X;	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000423709:exon6:c.C706T:p.Q236X;ENSG00000101624:ENST00000585751:exon4:c.C556T:p.Q186X;ENSG00000101624:ENST00000262127:exon7:c.C931T:p.Q311X;	0.999583317911169	0.944
18	12691360	G	C	18	12691361	y	n	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.C931G:p.Q311E;CEP76:NM_001271989:exon6:c.C706G:p.Q236E;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.C706G:p.Q236E;ENSG00000101624:ENST00000585751:exon4:c.C556G:p.Q186E;ENSG00000101624:ENST00000262127:exon7:c.C931G:p.Q311E;	0.82062353044981	0.548
18	12691360	G	T	18	12691361	y	n	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.C931A:p.Q311K;CEP76:NM_001271989:exon6:c.C706A:p.Q236K;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.C706A:p.Q236K;ENSG00000101624:ENST00000585751:exon4:c.C556A:p.Q186K;ENSG00000101624:ENST00000262127:exon7:c.C931A:p.Q311K;	0.928511257128152	0.804
18	12691485	A	C	18	12691486	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.T806G:p.L269R;CEP76:NM_001271989:exon6:c.T581G:p.L194R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.T581G:p.L194R;ENSG00000101624:ENST00000585751:exon4:c.T431G:p.L144R;ENSG00000101624:ENST00000262127:exon7:c.T806G:p.L269R;	0.602159623587923	0.27
18	12691485	A	G	18	12691486	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.T806C:p.L269P;CEP76:NM_001271989:exon6:c.T581C:p.L194P;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.T581C:p.L194P;ENSG00000101624:ENST00000585751:exon4:c.T431C:p.L144P;ENSG00000101624:ENST00000262127:exon7:c.T806C:p.L269P;	0.550319860507795	0.318
18	12691485	A	T	18	12691486	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.T806A:p.L269H;CEP76:NM_001271989:exon6:c.T581A:p.L194H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.T581A:p.L194H;ENSG00000101624:ENST00000585751:exon4:c.T431A:p.L144H;ENSG00000101624:ENST00000262127:exon7:c.T806A:p.L269H;	0.685391510454207	0.254
18	12691486	G	A	18	12691487	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.C805T:p.L269F;CEP76:NM_001271989:exon6:c.C580T:p.L194F;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.C580T:p.L194F;ENSG00000101624:ENST00000585751:exon4:c.C430T:p.L144F;ENSG00000101624:ENST00000262127:exon7:c.C805T:p.L269F;	0.0211965887194891	0.33
18	12691486	G	C	18	12691487	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.C805G:p.L269V;CEP76:NM_001271989:exon6:c.C580G:p.L194V;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.C580G:p.L194V;ENSG00000101624:ENST00000585751:exon4:c.C430G:p.L144V;ENSG00000101624:ENST00000262127:exon7:c.C805G:p.L269V;	0.00100850688966975	0.14
18	12691486	G	T	18	12691487	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon7:c.C805A:p.L269I;CEP76:NM_001271989:exon6:c.C580A:p.L194I;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon6:c.C580A:p.L194I;ENSG00000101624:ENST00000585751:exon4:c.C430A:p.L144I;ENSG00000101624:ENST00000262127:exon7:c.C805A:p.L269I;	3.18329503079103E-4	0.066
18	12691487	C	A	18	12691488	y	y	splicing	CEP76(NM_024899:exon8:c.805-1G>T;NM_001271989:exon7:c.580-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon8:c.800-1G>T;ENST00000262127:exon8:c.805-1G>T;ENST00000423709:exon7:c.580-1G>T;ENST00000593250:exon9:c.907-1G>T;ENST00000585751:exon5:c.430-1G>T;ENST00000591034:exon4:c.159-1G>T)	.	.	0.999992007541056	0.912
18	12691487	C	G	18	12691488	y	y	splicing	CEP76(NM_024899:exon8:c.805-1G>C;NM_001271989:exon7:c.580-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon8:c.800-1G>C;ENST00000262127:exon8:c.805-1G>C;ENST00000423709:exon7:c.580-1G>C;ENST00000593250:exon9:c.907-1G>C;ENST00000585751:exon5:c.430-1G>C;ENST00000591034:exon4:c.159-1G>C)	.	.	0.999992007541056	0.912
18	12691487	C	T	18	12691488	y	y	splicing	CEP76(NM_024899:exon8:c.805-1G>A;NM_001271989:exon7:c.580-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon8:c.800-1G>A;ENST00000262127:exon8:c.805-1G>A;ENST00000423709:exon7:c.580-1G>A;ENST00000593250:exon9:c.907-1G>A;ENST00000585751:exon5:c.430-1G>A;ENST00000591034:exon4:c.159-1G>A)	.	.	0.999992007541056	0.912
18	12691488	T	A	18	12691489	y	y	splicing	CEP76(NM_024899:exon8:c.805-2A>T;NM_001271989:exon7:c.580-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon8:c.800-2A>T;ENST00000262127:exon8:c.805-2A>T;ENST00000423709:exon7:c.580-2A>T;ENST00000593250:exon9:c.907-2A>T;ENST00000585751:exon5:c.430-2A>T;ENST00000591034:exon4:c.159-2A>T)	.	.	0.999994863145287	0.928
18	12691488	T	C	18	12691489	y	y	splicing	CEP76(NM_024899:exon8:c.805-2A>G;NM_001271989:exon7:c.580-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon8:c.800-2A>G;ENST00000262127:exon8:c.805-2A>G;ENST00000423709:exon7:c.580-2A>G;ENST00000593250:exon9:c.907-2A>G;ENST00000585751:exon5:c.430-2A>G;ENST00000591034:exon4:c.159-2A>G)	.	.	0.999994863145287	0.928
18	12691488	T	G	18	12691489	y	y	splicing	CEP76(NM_024899:exon8:c.805-2A>C;NM_001271989:exon7:c.580-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon8:c.800-2A>C;ENST00000262127:exon8:c.805-2A>C;ENST00000423709:exon7:c.580-2A>C;ENST00000593250:exon9:c.907-2A>C;ENST00000585751:exon5:c.430-2A>C;ENST00000591034:exon4:c.159-2A>C)	.	.	0.999994863145287	0.928
18	12691489	T	A	18	12691490	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00155045879806112	0.008
18	12691489	T	C	18	12691490	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0799174407405148	0.268
18	12691489	T	G	18	12691490	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00448483061645303	0.06
18	12691490	G	A	18	12691491	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.33033597038694E-5	0.022
18	12691490	G	C	18	12691491	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.19211459299908E-5	0.0
18	12691490	G	T	18	12691491	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.14447362846596E-5	0.012
18	12691491	A	C	18	12691492	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.972512561736432	0.714
18	12691491	A	G	18	12691492	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0072476829298667	0.208
18	12691491	A	T	18	12691492	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.981410063468803	0.742
18	12691492	A	C	18	12691493	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.976179250602699	0.738
18	12691492	A	G	18	12691493	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0096105615501314	0.138
18	12691492	A	T	18	12691493	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.98128431111525	0.724
18	12691493	A	C	18	12691494	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999915811515628	0.978
18	12691493	A	G	18	12691494	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00145968921326443	0.112
18	12691493	A	T	18	12691494	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.610143092907221	0.528
18	12691494	T	A	18	12691495	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.50919537235699E-4	0.012
18	12691494	T	C	18	12691495	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.997942925575795	0.906
18	12691494	T	G	18	12691495	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.21663083513229E-4	0.016
18	12691495	T	A	18	12691496	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.2620232602033E-4	0.05
18	12691495	T	C	18	12691496	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.96918345447867E-4	0.032
18	12691495	T	G	18	12691496	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00142097793882329	0.058
18	12691496	G	A	18	12691497	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.1139908612474E-5	0.136
18	12691496	G	C	18	12691497	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.73648051290214E-5	0.054
18	12691496	G	T	18	12691497	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.64923796514558E-4	0.066
18	12691497	A	C	18	12691498	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.795055136684985	0.564
18	12691497	A	G	18	12691498	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00185327293283021	0.214
18	12691497	A	T	18	12691498	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.947966092773924	0.526
18	12691498	A	C	18	12691499	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.966109569819057	0.774
18	12691498	A	G	18	12691499	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00722160857381083	0.118
18	12691498	A	T	18	12691499	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.979617532913192	0.798
18	12692159	A	C	18	12692160	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692159	A	G	18	12692160	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692159	A	T	18	12692160	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692160	C	A	18	12692161	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.59660858139777E-5	0.004
18	12692160	C	G	18	12692161	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.59660858139777E-5	0.004
18	12692160	C	T	18	12692161	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.59660858139777E-5	0.004
18	12692161	A	C	18	12692162	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692161	A	G	18	12692162	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692161	A	T	18	12692162	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692162	A	C	18	12692163	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692162	A	G	18	12692163	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692162	A	T	18	12692163	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692163	A	C	18	12692164	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692163	A	G	18	12692164	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692163	A	T	18	12692164	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692164	A	C	18	12692165	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692164	A	G	18	12692165	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692164	A	T	18	12692165	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.008
18	12692165	A	C	18	12692166	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.906+2T>G)	.	.	1.89552819446206E-5	0.002
18	12692165	A	G	18	12692166	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.906+2T>C)	.	.	1.89552819446206E-5	0.002
18	12692165	A	T	18	12692166	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.906+2T>A)	.	.	1.89552819446206E-5	0.002
18	12692166	C	A	18	12692167	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.906+1G>T)	.	.	1.42005417025298E-5	0.0
18	12692166	C	G	18	12692167	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.906+1G>C)	.	.	1.42005417025298E-5	0.0
18	12692166	C	T	18	12692167	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.906+1G>A)	.	.	1.42005417025298E-5	0.0
18	12692167	T	A	18	12692168	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.008
18	12692167	T	C	18	12692168	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.008
18	12692167	T	G	18	12692168	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.008
18	12692168	A	C	18	12692169	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.008
18	12692168	A	G	18	12692169	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.008
18	12692168	A	T	18	12692169	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.008
18	12692169	G	A	18	12692170	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.36188765766749E-5	0.008
18	12692169	G	C	18	12692170	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.36188765766749E-5	0.016
18	12692169	G	T	18	12692170	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.36188765766749E-5	0.018
18	12692310	A	C	18	12692311	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.59660858139777E-5	0.004
18	12692310	A	G	18	12692311	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.59660858139777E-5	0.004
18	12692310	A	T	18	12692311	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	1.59660858139777E-5	0.004
18	12692311	T	A	18	12692312	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.01
18	12692311	T	C	18	12692312	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.008
18	12692311	T	G	18	12692312	n	y	intronic	CEP76;PSMG2	.	.	UTR3	ENSG00000101624	.	.	9.57123356397867E-5	0.008
18	12692312	C	A	18	12692313	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.762-1G>T)	.	.	2.1036365348547E-5	0.006
18	12692312	C	G	18	12692313	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.762-1G>C)	.	.	2.1036365348547E-5	0.008
18	12692312	C	T	18	12692313	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.762-1G>A)	.	.	2.1036365348547E-5	0.006
18	12692313	T	A	18	12692314	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.762-2A>T)	.	.	9.57123356397867E-5	0.012
18	12692313	T	C	18	12692314	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.762-2A>G)	.	.	9.57123356397867E-5	0.008
18	12692313	T	G	18	12692314	n	y	intronic	CEP76;PSMG2	.	.	splicing	ENSG00000101624(ENST00000593250:exon8:c.762-2A>C)	.	.	9.57123356397867E-5	0.008
18	12692314	C	A	18	12692315	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.1036365348547E-5	0.008
18	12692314	C	G	18	12692315	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.36188765766749E-5	0.008
18	12692314	C	T	18	12692315	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.1036365348547E-5	0.006
18	12692315	A	C	18	12692316	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.45277156108894E-5	0.0
18	12692315	A	G	18	12692316	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.45277156108894E-5	0.0
18	12692315	A	T	18	12692316	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.78864525412067E-5	0.0
18	12692316	A	C	18	12692317	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.012
18	12692316	A	G	18	12692317	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.57123356397867E-5	0.012
18	12692316	A	T	18	12692317	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.27163650926202E-4	0.02
18	12692317	A	C	18	12692318	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.07620641825897E-5	0.0
18	12692317	A	G	18	12692318	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.07620641825897E-5	0.0
18	12692317	A	T	18	12692318	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.07620641825897E-5	0.0
18	12692318	A	C	18	12692319	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.37501361942679E-5	0.002
18	12692318	A	G	18	12692319	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.37501361942679E-5	0.002
18	12692318	A	T	18	12692319	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.48367148474546E-5	0.006
18	12692319	A	C	18	12692320	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.45277156108894E-5	0.0
18	12692319	A	G	18	12692320	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.45277156108894E-5	0.0
18	12692319	A	T	18	12692320	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.78864525412067E-5	0.0
18	12692320	A	C	18	12692321	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.07857771982363E-4	0.042
18	12692320	A	G	18	12692321	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.47800409892608E-4	0.04
18	12692320	A	T	18	12692321	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.50764387530968E-4	0.044
18	12692321	A	C	18	12692322	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.07857771982363E-4	0.04
18	12692321	A	G	18	12692322	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.47800409892608E-4	0.04
18	12692321	A	T	18	12692322	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.50764387530968E-4	0.042
18	12692322	A	C	18	12692323	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.48367148474546E-5	0.0
18	12692322	A	G	18	12692323	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.48367148474546E-5	0.0
18	12692322	A	T	18	12692323	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.52173701430229E-5	0.006
18	12692323	A	C	18	12692324	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.45277156108894E-5	0.0
18	12692323	A	G	18	12692324	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.45277156108894E-5	0.0
18	12692323	A	T	18	12692324	n	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.78864525412067E-5	0.0
18	12695245	G	A	18	12695246	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.69168927045529E-5	0.0
18	12695245	G	C	18	12695246	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.18168700964336E-5	0.0
18	12695245	G	T	18	12695246	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.18168700964336E-5	0.0
18	12695246	T	A	18	12695247	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.59351340390518E-4	0.016
18	12695246	T	C	18	12695247	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.89229719719868E-5	0.002
18	12695246	T	G	18	12695247	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.37687621806476E-5	0.002
18	12695247	A	C	18	12695248	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00388488863306151	0.262
18	12695247	A	G	18	12695248	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0145815428245195	0.318
18	12695247	A	T	18	12695248	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0592267504763479	0.334
18	12695248	T	A	18	12695249	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.17940969665957E-4	0.048
18	12695248	T	C	18	12695249	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.09371530270159E-5	0.04
18	12695248	T	G	18	12695249	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.90337792954747E-4	0.048
18	12695249	T	A	18	12695250	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.996655434564259	0.766
18	12695249	T	C	18	12695250	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.982456042988763	0.676
18	12695249	T	G	18	12695250	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.969154745388309	0.72
18	12695250	T	A	18	12695251	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.994426789390942	0.728
18	12695250	T	C	18	12695251	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0840024050026361	0.516
18	12695250	T	G	18	12695251	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.987927494745731	0.752
18	12695251	A	C	18	12695252	y	y	splicing	CEP76(NM_024899:exon7:c.804+2T>G;NM_001271989:exon6:c.579+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.799+2T>G;ENST00000262127:exon7:c.804+2T>G;ENST00000423709:exon6:c.579+2T>G;ENST00000587666:exon2:c.66+2T>G;ENST00000593250:exon7:c.761+2T>G;ENST00000585751:exon4:c.429+2T>G;ENST00000591034:exon3:c.158+2T>G)	.	.	0.999988247793601	0.928
18	12695251	A	G	18	12695252	y	y	splicing	CEP76(NM_024899:exon7:c.804+2T>C;NM_001271989:exon6:c.579+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.799+2T>C;ENST00000262127:exon7:c.804+2T>C;ENST00000423709:exon6:c.579+2T>C;ENST00000587666:exon2:c.66+2T>C;ENST00000593250:exon7:c.761+2T>C;ENST00000585751:exon4:c.429+2T>C;ENST00000591034:exon3:c.158+2T>C)	.	.	0.99340600729494	0.67
18	12695251	A	T	18	12695252	y	y	splicing	CEP76(NM_024899:exon7:c.804+2T>A;NM_001271989:exon6:c.579+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.799+2T>A;ENST00000262127:exon7:c.804+2T>A;ENST00000423709:exon6:c.579+2T>A;ENST00000587666:exon2:c.66+2T>A;ENST00000593250:exon7:c.761+2T>A;ENST00000585751:exon4:c.429+2T>A;ENST00000591034:exon3:c.158+2T>A)	.	.	0.999988247793601	0.928
18	12695252	C	A	18	12695253	y	y	splicing	CEP76(NM_024899:exon7:c.804+1G>T;NM_001271989:exon6:c.579+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.799+1G>T;ENST00000262127:exon7:c.804+1G>T;ENST00000423709:exon6:c.579+1G>T;ENST00000587666:exon2:c.66+1G>T;ENST00000593250:exon7:c.761+1G>T;ENST00000585751:exon4:c.429+1G>T;ENST00000591034:exon3:c.158+1G>T)	.	.	0.999985532734767	0.936
18	12695252	C	G	18	12695253	y	y	splicing	CEP76(NM_024899:exon7:c.804+1G>C;NM_001271989:exon6:c.579+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.799+1G>C;ENST00000262127:exon7:c.804+1G>C;ENST00000423709:exon6:c.579+1G>C;ENST00000587666:exon2:c.66+1G>C;ENST00000593250:exon7:c.761+1G>C;ENST00000585751:exon4:c.429+1G>C;ENST00000591034:exon3:c.158+1G>C)	.	.	0.999985532734767	0.936
18	12695252	C	T	18	12695253	y	y	splicing	CEP76(NM_024899:exon7:c.804+1G>A;NM_001271989:exon6:c.579+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.799+1G>A;ENST00000262127:exon7:c.804+1G>A;ENST00000423709:exon6:c.579+1G>A;ENST00000587666:exon2:c.66+1G>A;ENST00000593250:exon7:c.761+1G>A;ENST00000585751:exon4:c.429+1G>A;ENST00000591034:exon3:c.158+1G>A)	.	.	0.999985532734767	0.936
18	12695253	C	A	18	12695254	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.G804T:p.Q268H;CEP76:NM_001271989:exon5:c.G579T:p.Q193H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.G579T:p.Q193H;ENSG00000101624:ENST00000587666:exon1:c.G66T:p.Q22H;ENSG00000101624:ENST00000585751:exon3:c.G429T:p.Q143H;ENSG00000101624:ENST00000262127:exon6:c.G804T:p.Q268H;	0.999955339467078	0.996
18	12695253	C	G	18	12695254	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.G804C:p.Q268H;CEP76:NM_001271989:exon5:c.G579C:p.Q193H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.G579C:p.Q193H;ENSG00000101624:ENST00000587666:exon1:c.G66C:p.Q22H;ENSG00000101624:ENST00000585751:exon3:c.G429C:p.Q143H;ENSG00000101624:ENST00000262127:exon6:c.G804C:p.Q268H;	0.999997402829885	0.998
18	12695253	C	T	18	12695254	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon6:c.G804A:p.Q268Q;CEP76:NM_001271989:exon5:c.G579A:p.Q193Q;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.G579A:p.Q193Q;ENSG00000101624:ENST00000587666:exon1:c.G66A:p.Q22Q;ENSG00000101624:ENST00000585751:exon3:c.G429A:p.Q143Q;ENSG00000101624:ENST00000262127:exon6:c.G804A:p.Q268Q;	0.999938463597652	0.998
18	12695254	T	A	18	12695255	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.A803T:p.Q268L;CEP76:NM_001271989:exon5:c.A578T:p.Q193L;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.A578T:p.Q193L;ENSG00000101624:ENST00000587666:exon1:c.A65T:p.Q22L;ENSG00000101624:ENST00000585751:exon3:c.A428T:p.Q143L;ENSG00000101624:ENST00000262127:exon6:c.A803T:p.Q268L;	0.997309108879104	0.918
18	12695254	T	C	18	12695255	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.A803G:p.Q268R;CEP76:NM_001271989:exon5:c.A578G:p.Q193R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.A578G:p.Q193R;ENSG00000101624:ENST00000587666:exon1:c.A65G:p.Q22R;ENSG00000101624:ENST00000585751:exon3:c.A428G:p.Q143R;ENSG00000101624:ENST00000262127:exon6:c.A803G:p.Q268R;	0.998285592996235	0.912
18	12695254	T	G	18	12695255	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.A803C:p.Q268P;CEP76:NM_001271989:exon5:c.A578C:p.Q193P;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.A578C:p.Q193P;ENSG00000101624:ENST00000587666:exon1:c.A65C:p.Q22P;ENSG00000101624:ENST00000585751:exon3:c.A428C:p.Q143P;ENSG00000101624:ENST00000262127:exon6:c.A803C:p.Q268P;	0.994242422822487	0.892
18	12695255	G	A	18	12695256	y	y	exonic	CEP76	stopgain SNV	CEP76:NM_024899:exon6:c.C802T:p.Q268X;CEP76:NM_001271989:exon5:c.C577T:p.Q193X;	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000423709:exon5:c.C577T:p.Q193X;ENSG00000101624:ENST00000587666:exon1:c.C64T:p.Q22X;ENSG00000101624:ENST00000585751:exon3:c.C427T:p.Q143X;ENSG00000101624:ENST00000262127:exon6:c.C802T:p.Q268X;	0.997528580433134	0.92
18	12695255	G	C	18	12695256	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.C802G:p.Q268E;CEP76:NM_001271989:exon5:c.C577G:p.Q193E;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.C577G:p.Q193E;ENSG00000101624:ENST00000587666:exon1:c.C64G:p.Q22E;ENSG00000101624:ENST00000585751:exon3:c.C427G:p.Q143E;ENSG00000101624:ENST00000262127:exon6:c.C802G:p.Q268E;	0.858862273693983	0.594
18	12695255	G	T	18	12695256	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.C802A:p.Q268K;CEP76:NM_001271989:exon5:c.C577A:p.Q193K;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.C577A:p.Q193K;ENSG00000101624:ENST00000587666:exon1:c.C64A:p.Q22K;ENSG00000101624:ENST00000585751:exon3:c.C427A:p.Q143K;ENSG00000101624:ENST00000262127:exon6:c.C802A:p.Q268K;	0.950434337910873	0.804
18	12695349	G	A	18	12695350	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon6:c.C708T:p.G236G;CEP76:NM_001271989:exon5:c.C483T:p.G161G;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.C483T:p.G161G;ENSG00000101624:ENST00000585751:exon3:c.C333T:p.G111G;ENSG00000101624:ENST00000262127:exon6:c.C708T:p.G236G;	1.1182627728388E-4	0.01
18	12695349	G	C	18	12695350	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon6:c.C708G:p.G236G;CEP76:NM_001271989:exon5:c.C483G:p.G161G;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.C483G:p.G161G;ENSG00000101624:ENST00000585751:exon3:c.C333G:p.G111G;ENSG00000101624:ENST00000262127:exon6:c.C708G:p.G236G;	8.03931853665182E-5	0.012
18	12695349	G	T	18	12695350	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon6:c.C708A:p.G236G;CEP76:NM_001271989:exon5:c.C483A:p.G161G;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.C483A:p.G161G;ENSG00000101624:ENST00000585751:exon3:c.C333A:p.G111G;ENSG00000101624:ENST00000262127:exon6:c.C708A:p.G236G;	4.93843937481376E-5	0.014
18	12695350	C	A	18	12695351	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.G707T:p.G236V;CEP76:NM_001271989:exon5:c.G482T:p.G161V;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.G482T:p.G161V;ENSG00000101624:ENST00000585751:exon3:c.G332T:p.G111V;ENSG00000101624:ENST00000262127:exon6:c.G707T:p.G236V;	0.999892270230988	0.992
18	12695350	C	G	18	12695351	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.G707C:p.G236A;CEP76:NM_001271989:exon5:c.G482C:p.G161A;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.G482C:p.G161A;ENSG00000101624:ENST00000585751:exon3:c.G332C:p.G111A;ENSG00000101624:ENST00000262127:exon6:c.G707C:p.G236A;	0.999773827285017	0.99
18	12695350	C	T	18	12695351	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon6:c.G707A:p.G236D;CEP76:NM_001271989:exon5:c.G482A:p.G161D;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon5:c.G482A:p.G161D;ENSG00000101624:ENST00000585751:exon3:c.G332A:p.G111D;ENSG00000101624:ENST00000262127:exon6:c.G707A:p.G236D;	0.999373126175432	0.888
18	12695351	C	A	18	12695352	y	y	splicing	CEP76(NM_024899:exon7:c.707-1G>T;NM_001271989:exon6:c.482-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.702-1G>T;ENST00000262127:exon7:c.707-1G>T;ENST00000423709:exon6:c.482-1G>T;ENST00000593250:exon7:c.664-1G>T;ENST00000585751:exon4:c.332-1G>T;ENST00000591034:exon3:c.61-1G>T)	.	.	0.999986675681007	0.944
18	12695351	C	G	18	12695352	y	y	splicing	CEP76(NM_024899:exon7:c.707-1G>C;NM_001271989:exon6:c.482-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.702-1G>C;ENST00000262127:exon7:c.707-1G>C;ENST00000423709:exon6:c.482-1G>C;ENST00000593250:exon7:c.664-1G>C;ENST00000585751:exon4:c.332-1G>C;ENST00000591034:exon3:c.61-1G>C)	.	.	0.999986675681007	0.944
18	12695351	C	T	18	12695352	y	y	splicing	CEP76(NM_024899:exon7:c.707-1G>A;NM_001271989:exon6:c.482-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.702-1G>A;ENST00000262127:exon7:c.707-1G>A;ENST00000423709:exon6:c.482-1G>A;ENST00000593250:exon7:c.664-1G>A;ENST00000585751:exon4:c.332-1G>A;ENST00000591034:exon3:c.61-1G>A)	.	.	0.999986675681007	0.944
18	12695352	T	A	18	12695353	y	y	splicing	CEP76(NM_024899:exon7:c.707-2A>T;NM_001271989:exon6:c.482-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.702-2A>T;ENST00000262127:exon7:c.707-2A>T;ENST00000423709:exon6:c.482-2A>T;ENST00000593250:exon7:c.664-2A>T;ENST00000585751:exon4:c.332-2A>T;ENST00000591034:exon3:c.61-2A>T)	.	.	0.999988247793601	0.94
18	12695352	T	C	18	12695353	y	y	splicing	CEP76(NM_024899:exon7:c.707-2A>G;NM_001271989:exon6:c.482-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.702-2A>G;ENST00000262127:exon7:c.707-2A>G;ENST00000423709:exon6:c.482-2A>G;ENST00000593250:exon7:c.664-2A>G;ENST00000585751:exon4:c.332-2A>G;ENST00000591034:exon3:c.61-2A>G)	.	.	0.999988247793601	0.94
18	12695352	T	G	18	12695353	y	y	splicing	CEP76(NM_024899:exon7:c.707-2A>C;NM_001271989:exon6:c.482-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon7:c.702-2A>C;ENST00000262127:exon7:c.707-2A>C;ENST00000423709:exon6:c.482-2A>C;ENST00000593250:exon7:c.664-2A>C;ENST00000585751:exon4:c.332-2A>C;ENST00000591034:exon3:c.61-2A>C)	.	.	0.999988247793601	0.94
18	12695353	A	C	18	12695354	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.894824567912514	0.61
18	12695353	A	G	18	12695354	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.83942778916826E-5	0.0
18	12695353	A	T	18	12695354	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00504645964738997	0.186
18	12695354	T	A	18	12695355	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.86666311213729E-4	0.05
18	12695354	T	C	18	12695355	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.05121050745719E-4	0.038
18	12695354	T	G	18	12695355	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.47759860552641E-5	0.014
18	12695355	A	C	18	12695356	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.93486792619926	0.616
18	12695355	A	G	18	12695356	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00194763024013214	0.156
18	12695355	A	T	18	12695356	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.756833628239057	0.56
18	12695356	A	C	18	12695357	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.638014675818231	0.474
18	12695356	A	G	18	12695357	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0020712481492916	0.1
18	12695356	A	T	18	12695357	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.817709562529328	0.492
18	12695357	A	C	18	12695358	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0558039269143178	0.26
18	12695357	A	G	18	12695358	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.67461529306466E-4	0.042
18	12695357	A	T	18	12695358	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.718994759278329	0.566
18	12695358	C	A	18	12695359	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.42777938211792E-5	0.0
18	12695358	C	G	18	12695359	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.69314339762235E-5	0.002
18	12695358	C	T	18	12695359	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.66622767026194E-5	0.046
18	12695359	A	C	18	12695360	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999956529467006	0.984
18	12695359	A	G	18	12695360	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.15681908304504E-4	0.054
18	12695359	A	T	18	12695360	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999959897672657	0.972
18	12695360	T	A	18	12695361	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.45612225627207E-5	0.008
18	12695360	T	C	18	12695361	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.53530762694554E-4	0.044
18	12695360	T	G	18	12695361	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.45612225627207E-5	0.0
18	12695361	A	C	18	12695362	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.939047844618412	0.866
18	12695361	A	G	18	12695362	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.547619744057151	0.484
18	12695361	A	T	18	12695362	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.99504513093304	0.954
18	12695362	A	C	18	12695363	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.961973263035378	0.768
18	12695362	A	G	18	12695363	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0214165502784735	0.222
18	12695362	A	T	18	12695363	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.971172851115694	0.814
18	12697214	C	A	18	12697215	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.58376417563396E-4	0.014
18	12697214	C	G	18	12697215	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.02522128639642E-4	0.006
18	12697214	C	T	18	12697215	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.16951757633776E-4	0.006
18	12697215	A	C	18	12697216	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.92810312360214E-4	0.002
18	12697215	A	G	18	12697216	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.96760649037969E-4	0.002
18	12697215	A	T	18	12697216	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00145571116427241	0.006
18	12697216	C	A	18	12697217	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.39127929245567E-5	0.0
18	12697216	C	G	18	12697217	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.13399856103918E-5	0.06
18	12697216	C	T	18	12697217	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.30726621062323E-5	0.024
18	12697217	C	A	18	12697218	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998702823770228	0.79
18	12697217	C	G	18	12697218	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.988627138331254	0.748
18	12697217	C	T	18	12697218	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999414773961693	0.908
18	12697218	A	C	18	12697219	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00292526741944779	0.062
18	12697218	A	G	18	12697219	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0323070097631241	0.198
18	12697218	A	T	18	12697219	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00407139188730666	0.072
18	12697219	T	A	18	12697220	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999987990194088	0.98
18	12697219	T	C	18	12697220	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998439677891315	0.9
18	12697219	T	G	18	12697220	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999964684952561	0.942
18	12697220	A	C	18	12697221	y	y	splicing	CEP76(NM_024899:exon6:c.706+2T>G;NM_001271989:exon5:c.481+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.701+2T>G;ENST00000262127:exon6:c.706+2T>G;ENST00000423709:exon5:c.481+2T>G;ENST00000593250:exon6:c.663+2T>G;ENST00000585751:exon3:c.331+2T>G)	.	.	0.999994907583848	0.936
18	12697220	A	G	18	12697221	y	y	splicing	CEP76(NM_024899:exon6:c.706+2T>C;NM_001271989:exon5:c.481+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.701+2T>C;ENST00000262127:exon6:c.706+2T>C;ENST00000423709:exon5:c.481+2T>C;ENST00000593250:exon6:c.663+2T>C;ENST00000585751:exon3:c.331+2T>C)	.	.	0.99586043167523	0.606
18	12697220	A	T	18	12697221	y	y	splicing	CEP76(NM_024899:exon6:c.706+2T>A;NM_001271989:exon5:c.481+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.701+2T>A;ENST00000262127:exon6:c.706+2T>A;ENST00000423709:exon5:c.481+2T>A;ENST00000593250:exon6:c.663+2T>A;ENST00000585751:exon3:c.331+2T>A)	.	.	0.999994907583848	0.938
18	12697221	C	A	18	12697222	y	y	splicing	CEP76(NM_024899:exon6:c.706+1G>T;NM_001271989:exon5:c.481+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.701+1G>T;ENST00000262127:exon6:c.706+1G>T;ENST00000423709:exon5:c.481+1G>T;ENST00000593250:exon6:c.663+1G>T;ENST00000585751:exon3:c.331+1G>T)	.	.	0.999990764389106	0.942
18	12697221	C	G	18	12697222	y	y	splicing	CEP76(NM_024899:exon6:c.706+1G>C;NM_001271989:exon5:c.481+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.701+1G>C;ENST00000262127:exon6:c.706+1G>C;ENST00000423709:exon5:c.481+1G>C;ENST00000593250:exon6:c.663+1G>C;ENST00000585751:exon3:c.331+1G>C)	.	.	0.999990764389106	0.942
18	12697221	C	T	18	12697222	y	y	splicing	CEP76(NM_024899:exon6:c.706+1G>A;NM_001271989:exon5:c.481+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.701+1G>A;ENST00000262127:exon6:c.706+1G>A;ENST00000423709:exon5:c.481+1G>A;ENST00000593250:exon6:c.663+1G>A;ENST00000585751:exon3:c.331+1G>A)	.	.	0.999990764389106	0.942
18	12697222	C	A	18	12697223	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.G706T:p.G236C;CEP76:NM_001271989:exon4:c.G481T:p.G161C;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.G481T:p.G161C;ENSG00000101624:ENST00000585751:exon2:c.G331T:p.G111C;ENSG00000101624:ENST00000262127:exon5:c.G706T:p.G236C;	0.999990974025273	1.0
18	12697222	C	G	18	12697223	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.G706C:p.G236R;CEP76:NM_001271989:exon4:c.G481C:p.G161R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.G481C:p.G161R;ENSG00000101624:ENST00000585751:exon2:c.G331C:p.G111R;ENSG00000101624:ENST00000262127:exon5:c.G706C:p.G236R;	0.999996570241486	0.998
18	12697222	C	T	18	12697223	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.G706A:p.G236S;CEP76:NM_001271989:exon4:c.G481A:p.G161S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.G481A:p.G161S;ENSG00000101624:ENST00000585751:exon2:c.G331A:p.G111S;ENSG00000101624:ENST00000262127:exon5:c.G706A:p.G236S;	0.999997377968731	1.0
18	12697223	T	A	18	12697224	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon5:c.A705T:p.V235V;CEP76:NM_001271989:exon4:c.A480T:p.V160V;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.A480T:p.V160V;ENSG00000101624:ENST00000585751:exon2:c.A330T:p.V110V;ENSG00000101624:ENST00000262127:exon5:c.A705T:p.V235V;	0.998236113518148	0.932
18	12697223	T	C	18	12697224	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon5:c.A705G:p.V235V;CEP76:NM_001271989:exon4:c.A480G:p.V160V;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.A480G:p.V160V;ENSG00000101624:ENST00000585751:exon2:c.A330G:p.V110V;ENSG00000101624:ENST00000262127:exon5:c.A705G:p.V235V;	0.988594884589886	0.776
18	12697223	T	G	18	12697224	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon5:c.A705C:p.V235V;CEP76:NM_001271989:exon4:c.A480C:p.V160V;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.A480C:p.V160V;ENSG00000101624:ENST00000585751:exon2:c.A330C:p.V110V;ENSG00000101624:ENST00000262127:exon5:c.A705C:p.V235V;	0.984902470601235	0.83
18	12697224	A	C	18	12697225	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.T704G:p.V235G;CEP76:NM_001271989:exon4:c.T479G:p.V160G;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.T479G:p.V160G;ENSG00000101624:ENST00000585751:exon2:c.T329G:p.V110G;ENSG00000101624:ENST00000262127:exon5:c.T704G:p.V235G;	0.667047972534847	0.73
18	12697224	A	G	18	12697225	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.T704C:p.V235A;CEP76:NM_001271989:exon4:c.T479C:p.V160A;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.T479C:p.V160A;ENSG00000101624:ENST00000585751:exon2:c.T329C:p.V110A;ENSG00000101624:ENST00000262127:exon5:c.T704C:p.V235A;	0.546845232938062	0.564
18	12697224	A	T	18	12697225	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.T704A:p.V235E;CEP76:NM_001271989:exon4:c.T479A:p.V160E;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.T479A:p.V160E;ENSG00000101624:ENST00000585751:exon2:c.T329A:p.V110E;ENSG00000101624:ENST00000262127:exon5:c.T704A:p.V235E;	0.538251855129627	0.668
18	12697406	A	C	18	12697407	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_001271989:exon4:c.T297G:p.S99R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.T297G:p.S99R;	0.0666614030833953	0.296
18	12697406	A	G	18	12697407	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon5:c.T522C:p.G174G;CEP76:NM_001271989:exon4:c.T297C:p.S99S;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.T297C:p.S99S;ENSG00000101624:ENST00000585751:exon2:c.T147C:p.G49G;ENSG00000101624:ENST00000262127:exon5:c.T522C:p.G174G;	0.0314697938459158	0.21
18	12697406	A	T	18	12697407	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_001271989:exon4:c.T297A:p.S99R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.T297A:p.S99R;	0.107263223291543	0.342
18	12697407	C	A	18	12697408	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.G521T:p.G174V;CEP76:NM_001271989:exon4:c.G296T:p.S99I;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.G296T:p.S99I;ENSG00000101624:ENST00000585751:exon2:c.G146T:p.G49V;ENSG00000101624:ENST00000262127:exon5:c.G521T:p.G174V;	0.999950163895929	0.986
18	12697407	C	G	18	12697408	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.G521C:p.G174A;CEP76:NM_001271989:exon4:c.G296C:p.S99T;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.G296C:p.S99T;ENSG00000101624:ENST00000585751:exon2:c.G146C:p.G49A;ENSG00000101624:ENST00000262127:exon5:c.G521C:p.G174A;	0.999573027458078	0.916
18	12697407	C	T	18	12697408	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon5:c.G521A:p.G174D;CEP76:NM_001271989:exon4:c.G296A:p.S99N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon4:c.G296A:p.S99N;ENSG00000101624:ENST00000585751:exon2:c.G146A:p.G49D;ENSG00000101624:ENST00000262127:exon5:c.G521A:p.G174D;	0.999615107595559	0.922
18	12697408	C	A	18	12697409	y	y	splicing	CEP76(NM_024899:exon6:c.521-1G>T;NM_001271989:exon5:c.296-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.516-1G>T;ENST00000262127:exon6:c.521-1G>T;ENST00000423709:exon5:c.296-1G>T;ENST00000593250:exon6:c.478-1G>T;ENST00000585751:exon3:c.146-1G>T;ENST00000587929:exon6:c.483-1G>T)	.	.	0.999989125585301	0.932
18	12697408	C	G	18	12697409	y	y	splicing	CEP76(NM_024899:exon6:c.521-1G>C;NM_001271989:exon5:c.296-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.516-1G>C;ENST00000262127:exon6:c.521-1G>C;ENST00000423709:exon5:c.296-1G>C;ENST00000593250:exon6:c.478-1G>C;ENST00000585751:exon3:c.146-1G>C;ENST00000587929:exon6:c.483-1G>C)	.	.	0.999989125585301	0.932
18	12697408	C	T	18	12697409	y	y	splicing	CEP76(NM_024899:exon6:c.521-1G>A;NM_001271989:exon5:c.296-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.516-1G>A;ENST00000262127:exon6:c.521-1G>A;ENST00000423709:exon5:c.296-1G>A;ENST00000593250:exon6:c.478-1G>A;ENST00000585751:exon3:c.146-1G>A;ENST00000587929:exon6:c.483-1G>A)	.	.	0.999989125585301	0.932
18	12697409	T	A	18	12697410	y	y	splicing	CEP76(NM_024899:exon6:c.521-2A>T;NM_001271989:exon5:c.296-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.516-2A>T;ENST00000262127:exon6:c.521-2A>T;ENST00000423709:exon5:c.296-2A>T;ENST00000593250:exon6:c.478-2A>T;ENST00000585751:exon3:c.146-2A>T;ENST00000587929:exon6:c.483-2A>T)	.	.	0.999991478261395	0.924
18	12697409	T	C	18	12697410	y	y	splicing	CEP76(NM_024899:exon6:c.521-2A>G;NM_001271989:exon5:c.296-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.516-2A>G;ENST00000262127:exon6:c.521-2A>G;ENST00000423709:exon5:c.296-2A>G;ENST00000593250:exon6:c.478-2A>G;ENST00000585751:exon3:c.146-2A>G;ENST00000587929:exon6:c.483-2A>G)	.	.	0.999991478261395	0.932
18	12697409	T	G	18	12697410	y	y	splicing	CEP76(NM_024899:exon6:c.521-2A>C;NM_001271989:exon5:c.296-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon6:c.516-2A>C;ENST00000262127:exon6:c.521-2A>C;ENST00000423709:exon5:c.296-2A>C;ENST00000593250:exon6:c.478-2A>C;ENST00000585751:exon3:c.146-2A>C;ENST00000587929:exon6:c.483-2A>C)	.	.	0.999991478261395	0.932
18	12697410	A	C	18	12697411	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.98119860149951	0.64
18	12697410	A	G	18	12697411	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.19646844774314E-4	0.026
18	12697410	A	T	18	12697411	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.177835673137488	0.346
18	12697411	G	A	18	12697412	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.2507879359879E-5	0.016
18	12697411	G	C	18	12697412	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.13165625110059E-4	0.028
18	12697411	G	T	18	12697412	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.79647570218747E-5	0.002
18	12697412	C	A	18	12697413	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.49602749213697E-5	0.028
18	12697412	C	G	18	12697413	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.22452942520041E-5	0.006
18	12697412	C	T	18	12697413	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.64201233464035E-4	0.006
18	12697413	A	C	18	12697414	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.855005011751065	0.624
18	12697413	A	G	18	12697414	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.90009345023729E-4	0.072
18	12697413	A	T	18	12697414	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999955697849604	0.972
18	12697414	A	C	18	12697415	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.99993634532434	0.97
18	12697414	A	G	18	12697415	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00142468703353959	0.066
18	12697414	A	T	18	12697415	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.123095718148489	0.342
18	12697415	T	A	18	12697416	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.10595061563731E-4	0.03
18	12697415	T	C	18	12697416	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.09145260457864E-5	0.002
18	12697415	T	G	18	12697416	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.94026952356761E-5	0.06
18	12697416	A	C	18	12697417	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999965542631981	0.982
18	12697416	A	G	18	12697417	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0010790231422888	0.092
18	12697416	A	T	18	12697417	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.132786163709345	0.402
18	12697417	T	A	18	12697418	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.23480173415999E-4	0.04
18	12697417	T	C	18	12697418	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.27734602332025E-5	0.022
18	12697417	T	G	18	12697418	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.60670647722392E-5	0.05
18	12697418	A	C	18	12697419	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.992670195299831	0.73
18	12697418	A	G	18	12697419	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0126747473540082	0.22
18	12697418	A	T	18	12697419	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.992423189632245	0.744
18	12697419	A	C	18	12697420	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999940335692258	0.972
18	12697419	A	G	18	12697420	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0798899953908592	0.22
18	12697419	A	T	18	12697420	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.994475398928293	0.896
18	12698970	T	A	18	12698971	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.43066890901006E-4	0.008
18	12698970	T	C	18	12698971	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.02443692669421E-4	0.0
18	12698970	T	G	18	12698971	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.02443692669421E-4	0.0
18	12698971	T	A	18	12698972	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00193549984199035	0.052
18	12698971	T	C	18	12698972	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.56891843839312E-4	0.014
18	12698971	T	G	18	12698972	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.56891843839312E-4	0.01
18	12698972	T	A	18	12698973	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.59546626765757E-5	0.006
18	12698972	T	C	18	12698973	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.23434705722224E-5	0.0
18	12698972	T	G	18	12698973	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.1274804283835E-4	0.01
18	12698973	C	A	18	12698974	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999957228050339	0.958
18	12698973	C	G	18	12698974	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999964698459569	0.882
18	12698973	C	T	18	12698974	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999953676506479	0.994
18	12698974	T	A	18	12698975	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999341694227157	0.926
18	12698974	T	C	18	12698975	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998608888456541	0.902
18	12698974	T	G	18	12698975	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999208280799343	0.926
18	12698975	T	A	18	12698976	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999825750898454	0.964
18	12698975	T	C	18	12698976	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.986590268454178	0.722
18	12698975	T	G	18	12698976	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999854314611899	0.938
18	12698976	A	C	18	12698977	y	y	splicing	CEP76(NM_024899:exon5:c.520+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.515+2T>G;ENST00000262127:exon5:c.520+2T>G;ENST00000593250:exon5:c.477+2T>G;ENST00000585751:exon2:c.145+2T>G;ENST00000587929:exon5:c.482+2T>G)	.	.	0.999988247793601	0.932
18	12698976	A	G	18	12698977	y	y	splicing	CEP76(NM_024899:exon5:c.520+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.515+2T>C;ENST00000262127:exon5:c.520+2T>C;ENST00000593250:exon5:c.477+2T>C;ENST00000585751:exon2:c.145+2T>C;ENST00000587929:exon5:c.482+2T>C)	.	.	0.99991522016916	0.888
18	12698976	A	T	18	12698977	y	y	splicing	CEP76(NM_024899:exon5:c.520+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.515+2T>A;ENST00000262127:exon5:c.520+2T>A;ENST00000593250:exon5:c.477+2T>A;ENST00000585751:exon2:c.145+2T>A;ENST00000587929:exon5:c.482+2T>A)	.	.	0.999988247793601	0.932
18	12698977	C	A	18	12698978	y	y	splicing	CEP76(NM_024899:exon5:c.520+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.515+1G>T;ENST00000262127:exon5:c.520+1G>T;ENST00000593250:exon5:c.477+1G>T;ENST00000585751:exon2:c.145+1G>T;ENST00000587929:exon5:c.482+1G>T)	.	.	0.999990361384395	0.938
18	12698977	C	G	18	12698978	y	y	splicing	CEP76(NM_024899:exon5:c.520+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.515+1G>C;ENST00000262127:exon5:c.520+1G>C;ENST00000593250:exon5:c.477+1G>C;ENST00000585751:exon2:c.145+1G>C;ENST00000587929:exon5:c.482+1G>C)	.	.	0.999990361384395	0.938
18	12698977	C	T	18	12698978	y	y	splicing	CEP76(NM_024899:exon5:c.520+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.515+1G>A;ENST00000262127:exon5:c.520+1G>A;ENST00000593250:exon5:c.477+1G>A;ENST00000585751:exon2:c.145+1G>A;ENST00000587929:exon5:c.482+1G>A)	.	.	0.999990361384395	0.938
18	12698978	C	A	18	12698979	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.G520T:p.G174C;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon1:c.G145T:p.G49C;ENSG00000101624:ENST00000262127:exon4:c.G520T:p.G174C;	0.999993143219313	1.0
18	12698978	C	G	18	12698979	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.G520C:p.G174R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon1:c.G145C:p.G49R;ENSG00000101624:ENST00000262127:exon4:c.G520C:p.G174R;	0.999993585815828	0.992
18	12698978	C	T	18	12698979	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.G520A:p.G174S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon1:c.G145A:p.G49S;ENSG00000101624:ENST00000262127:exon4:c.G520A:p.G174S;	0.999973139812299	1.0
18	12698979	C	A	18	12698980	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.G519T:p.L173F;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon1:c.G144T:p.L48F;ENSG00000101624:ENST00000262127:exon4:c.G519T:p.L173F;	3.30195934507493E-4	0.02
18	12698979	C	G	18	12698980	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.G519C:p.L173F;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon1:c.G144C:p.L48F;ENSG00000101624:ENST00000262127:exon4:c.G519C:p.L173F;	1.59242411957341E-4	0.016
18	12698979	C	T	18	12698980	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon4:c.G519A:p.L173L;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000585751:exon1:c.G144A:p.L48L;ENSG00000101624:ENST00000262127:exon4:c.G519A:p.L173L;	6.52774061000174E-5	0.03
18	12698980	A	C	18	12698981	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.T518G:p.L173W;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon1:c.T143G:p.L48W;ENSG00000101624:ENST00000262127:exon4:c.T518G:p.L173W;	0.902796544190464	0.728
18	12698980	A	G	18	12698981	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.T518C:p.L173S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000585751:exon1:c.T143C:p.L48S;ENSG00000101624:ENST00000262127:exon4:c.T518C:p.L173S;	9.12485640684428E-4	0.008
18	12698980	A	T	18	12698981	y	y	exonic	CEP76	stopgain SNV	CEP76:NM_024899:exon4:c.T518A:p.L173X;	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000585751:exon1:c.T143A:p.L48X;ENSG00000101624:ENST00000262127:exon4:c.T518A:p.L173X;	0.813500837267572	0.758
18	12699201	A	C	18	12699202	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon4:c.T297G:p.T99T;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000262127:exon4:c.T297G:p.T99T;	0.578123439540307	0.316
18	12699201	A	G	18	12699202	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon4:c.T297C:p.T99T;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000262127:exon4:c.T297C:p.T99T;	0.587287598034599	0.346
18	12699201	A	T	18	12699202	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon4:c.T297A:p.T99T;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000262127:exon4:c.T297A:p.T99T;	0.599719618699862	0.38
18	12699202	G	A	18	12699203	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.C296T:p.T99I;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000262127:exon4:c.C296T:p.T99I;	0.68314693700105	0.516
18	12699202	G	C	18	12699203	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.C296G:p.T99S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000262127:exon4:c.C296G:p.T99S;	0.00330521716669721	0.096
18	12699202	G	T	18	12699203	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon4:c.C296A:p.T99N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000262127:exon4:c.C296A:p.T99N;	0.94955752102786	0.642
18	12699203	C	A	18	12699204	y	y	splicing	CEP76(NM_024899:exon5:c.296-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.291-1G>T;ENST00000262127:exon5:c.296-1G>T)	.	.	0.999989125585301	0.944
18	12699203	C	G	18	12699204	y	y	splicing	CEP76(NM_024899:exon5:c.296-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.291-1G>C;ENST00000262127:exon5:c.296-1G>C)	.	.	0.999989125585301	0.944
18	12699203	C	T	18	12699204	y	y	splicing	CEP76(NM_024899:exon5:c.296-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.291-1G>A;ENST00000262127:exon5:c.296-1G>A)	.	.	0.999989125585301	0.944
18	12699204	T	A	18	12699205	y	y	splicing	CEP76(NM_024899:exon5:c.296-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.291-2A>T;ENST00000262127:exon5:c.296-2A>T)	.	.	0.999986741007567	0.946
18	12699204	T	C	18	12699205	y	y	splicing	CEP76(NM_024899:exon5:c.296-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.291-2A>G;ENST00000262127:exon5:c.296-2A>G)	.	.	0.999986741007567	0.946
18	12699204	T	G	18	12699205	y	y	splicing	CEP76(NM_024899:exon5:c.296-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon5:c.291-2A>C;ENST00000262127:exon5:c.296-2A>C)	.	.	0.999986741007567	0.946
18	12699205	G	A	18	12699206	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.992077670036671	0.496
18	12699205	G	C	18	12699206	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999972167828834	0.954
18	12699205	G	T	18	12699206	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999906416410533	0.962
18	12699206	T	A	18	12699207	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.72582732381018E-4	0.036
18	12699206	T	C	18	12699207	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.65431239198255E-4	0.142
18	12699206	T	G	18	12699207	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.01491398643294E-4	0.104
18	12699207	A	C	18	12699208	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999136008005794	0.884
18	12699207	A	G	18	12699208	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.524776426364722	0.466
18	12699207	A	T	18	12699208	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.99944359712323	0.93
18	12699208	A	C	18	12699209	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998792153217105	0.882
18	12699208	A	G	18	12699209	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0201865272781493	0.282
18	12699208	A	T	18	12699209	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999050558125885	0.894
18	12699209	A	C	18	12699210	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998163179526281	0.904
18	12699209	A	G	18	12699210	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0146223401794213	0.22
18	12699209	A	T	18	12699210	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998225826367943	0.936
18	12699210	G	A	18	12699211	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0173873337224407	0.194
18	12699210	G	C	18	12699211	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999931554861169	0.966
18	12699210	G	T	18	12699211	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.704571917619999	0.514
18	12699211	T	A	18	12699212	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.720529420118802	0.598
18	12699211	T	C	18	12699212	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.93846117665543	0.804
18	12699211	T	G	18	12699212	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.743079865496101	0.672
18	12699212	G	A	18	12699213	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.957330060285423	0.77
18	12699212	G	C	18	12699213	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999973057080713	0.958
18	12699212	G	T	18	12699213	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.993158046173921	0.682
18	12699213	T	A	18	12699214	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.816752642207431	0.61
18	12699213	T	C	18	12699214	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.870500821557456	0.764
18	12699213	T	G	18	12699214	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.759928173110421	0.674
18	12699214	A	C	18	12699215	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999448457917902	0.934
18	12699214	A	G	18	12699215	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.813749925525426	0.55
18	12699214	A	T	18	12699215	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999323477892816	0.892
18	12699821	A	C	18	12699822	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.97402826245415E-4	0.068
18	12699821	A	G	18	12699822	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00406743026404832	0.128
18	12699821	A	T	18	12699822	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00166340526197049	0.022
18	12699822	T	A	18	12699823	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.07145804741578E-4	0.14
18	12699822	T	C	18	12699823	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.11087403071293E-5	0.002
18	12699822	T	G	18	12699823	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.93752461369013E-4	0.004
18	12699823	A	C	18	12699824	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998290860228223	0.944
18	12699823	A	G	18	12699824	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.985314540537045	0.886
18	12699823	A	T	18	12699824	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.998050227965267	0.806
18	12699824	C	A	18	12699825	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999952392414962	0.99
18	12699824	C	G	18	12699825	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999952831356824	0.982
18	12699824	C	T	18	12699825	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999949619533833	1.0
18	12699825	A	C	18	12699826	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.299273293829797	0.314
18	12699825	A	G	18	12699826	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.510430947886328	0.682
18	12699825	A	T	18	12699826	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0191871519895454	0.174
18	12699826	T	A	18	12699827	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999932610313791	0.976
18	12699826	T	C	18	12699827	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.997564520853	0.946
18	12699826	T	G	18	12699827	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999897849668984	0.962
18	12699827	A	C	18	12699828	y	y	splicing	CEP76(NM_024899:exon4:c.295+2T>G;NM_001271989:exon4:c.295+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon4:c.290+2T>G;ENST00000262127:exon4:c.295+2T>G;ENST00000423709:exon4:c.295+2T>G;ENST00000593250:exon4:c.290+2T>G;ENST00000587929:exon4:c.295+2T>G)	.	.	0.999988247793601	0.926
18	12699827	A	G	18	12699828	y	y	splicing	CEP76(NM_024899:exon4:c.295+2T>C;NM_001271989:exon4:c.295+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon4:c.290+2T>C;ENST00000262127:exon4:c.295+2T>C;ENST00000423709:exon4:c.295+2T>C;ENST00000593250:exon4:c.290+2T>C;ENST00000587929:exon4:c.295+2T>C)	.	.	0.98918007292081	0.634
18	12699827	A	T	18	12699828	y	y	splicing	CEP76(NM_024899:exon4:c.295+2T>A;NM_001271989:exon4:c.295+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon4:c.290+2T>A;ENST00000262127:exon4:c.295+2T>A;ENST00000423709:exon4:c.295+2T>A;ENST00000593250:exon4:c.290+2T>A;ENST00000587929:exon4:c.295+2T>A)	.	.	0.999988247793601	0.926
18	12699828	C	A	18	12699829	y	y	splicing	CEP76(NM_024899:exon4:c.295+1G>T;NM_001271989:exon4:c.295+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon4:c.290+1G>T;ENST00000262127:exon4:c.295+1G>T;ENST00000423709:exon4:c.295+1G>T;ENST00000593250:exon4:c.290+1G>T;ENST00000587929:exon4:c.295+1G>T)	.	.	0.999985532734767	0.934
18	12699828	C	G	18	12699829	y	y	splicing	CEP76(NM_024899:exon4:c.295+1G>C;NM_001271989:exon4:c.295+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon4:c.290+1G>C;ENST00000262127:exon4:c.295+1G>C;ENST00000423709:exon4:c.295+1G>C;ENST00000593250:exon4:c.290+1G>C;ENST00000587929:exon4:c.295+1G>C)	.	.	0.999985532734767	0.934
18	12699828	C	T	18	12699829	y	y	splicing	CEP76(NM_024899:exon4:c.295+1G>A;NM_001271989:exon4:c.295+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon4:c.290+1G>A;ENST00000262127:exon4:c.295+1G>A;ENST00000423709:exon4:c.295+1G>A;ENST00000593250:exon4:c.290+1G>A;ENST00000587929:exon4:c.295+1G>A)	.	.	0.999985532734767	0.934
18	12699829	T	A	18	12699830	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A295T:p.T99S;CEP76:NM_001271989:exon3:c.A295T:p.S99C;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A295T:p.S99C;ENSG00000101624:ENST00000587929:exon3:c.A295T:p.S99C;ENSG00000101624:ENST00000262127:exon3:c.A295T:p.T99S;	0.774510613866166	0.596
18	12699829	T	C	18	12699830	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A295G:p.T99A;CEP76:NM_001271989:exon3:c.A295G:p.S99G;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A295G:p.S99G;ENSG00000101624:ENST00000587929:exon3:c.A295G:p.S99G;ENSG00000101624:ENST00000262127:exon3:c.A295G:p.T99A;	0.00111486380222805	0.072
18	12699829	T	G	18	12699830	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A295C:p.T99P;CEP76:NM_001271989:exon3:c.A295C:p.S99R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A295C:p.S99R;ENSG00000101624:ENST00000587929:exon3:c.A295C:p.S99R;ENSG00000101624:ENST00000262127:exon3:c.A295C:p.T99P;	0.756140309836117	0.718
18	12699830	T	A	18	12699831	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A294T:p.K98N;CEP76:NM_001271989:exon3:c.A294T:p.K98N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A294T:p.K98N;ENSG00000101624:ENST00000587929:exon3:c.A294T:p.K98N;ENSG00000101624:ENST00000262127:exon3:c.A294T:p.K98N;	0.99786550752455	0.97
18	12699830	T	C	18	12699831	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon3:c.A294G:p.K98K;CEP76:NM_001271989:exon3:c.A294G:p.K98K;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A294G:p.K98K;ENSG00000101624:ENST00000587929:exon3:c.A294G:p.K98K;ENSG00000101624:ENST00000262127:exon3:c.A294G:p.K98K;	0.998917635430951	0.972
18	12699830	T	G	18	12699831	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A294C:p.K98N;CEP76:NM_001271989:exon3:c.A294C:p.K98N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A294C:p.K98N;ENSG00000101624:ENST00000587929:exon3:c.A294C:p.K98N;ENSG00000101624:ENST00000262127:exon3:c.A294C:p.K98N;	0.970264379030226	0.82
18	12699831	T	A	18	12699832	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A293T:p.K98I;CEP76:NM_001271989:exon3:c.A293T:p.K98I;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A293T:p.K98I;ENSG00000101624:ENST00000587929:exon3:c.A293T:p.K98I;ENSG00000101624:ENST00000262127:exon3:c.A293T:p.K98I;	0.981450908363181	0.71
18	12699831	T	C	18	12699832	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A293G:p.K98R;CEP76:NM_001271989:exon3:c.A293G:p.K98R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A293G:p.K98R;ENSG00000101624:ENST00000587929:exon3:c.A293G:p.K98R;ENSG00000101624:ENST00000262127:exon3:c.A293G:p.K98R;	0.00100023864966243	0.036
18	12699831	T	G	18	12699832	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A293C:p.K98T;CEP76:NM_001271989:exon3:c.A293C:p.K98T;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A293C:p.K98T;ENSG00000101624:ENST00000587929:exon3:c.A293C:p.K98T;ENSG00000101624:ENST00000262127:exon3:c.A293C:p.K98T;	0.00222050751401326	0.02
18	12699903	T	A	18	12699904	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A221T:p.D74V;CEP76:NM_001271989:exon3:c.A221T:p.D74V;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A221T:p.D74V;ENSG00000101624:ENST00000587929:exon3:c.A221T:p.D74V;ENSG00000101624:ENST00000262127:exon3:c.A221T:p.D74V;	0.81220951530799	0.708
18	12699903	T	C	18	12699904	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A221G:p.D74G;CEP76:NM_001271989:exon3:c.A221G:p.D74G;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A221G:p.D74G;ENSG00000101624:ENST00000587929:exon3:c.A221G:p.D74G;ENSG00000101624:ENST00000262127:exon3:c.A221G:p.D74G;	0.803822739697774	0.49
18	12699903	T	G	18	12699904	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.A221C:p.D74A;CEP76:NM_001271989:exon3:c.A221C:p.D74A;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.A221C:p.D74A;ENSG00000101624:ENST00000587929:exon3:c.A221C:p.D74A;ENSG00000101624:ENST00000262127:exon3:c.A221C:p.D74A;	0.799103776429488	0.728
18	12699904	C	A	18	12699905	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.G220T:p.D74Y;CEP76:NM_001271989:exon3:c.G220T:p.D74Y;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.G220T:p.D74Y;ENSG00000101624:ENST00000587929:exon3:c.G220T:p.D74Y;ENSG00000101624:ENST00000262127:exon3:c.G220T:p.D74Y;	0.999470620607515	0.946
18	12699904	C	G	18	12699905	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.G220C:p.D74H;CEP76:NM_001271989:exon3:c.G220C:p.D74H;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.G220C:p.D74H;ENSG00000101624:ENST00000587929:exon3:c.G220C:p.D74H;ENSG00000101624:ENST00000262127:exon3:c.G220C:p.D74H;	0.999469220246841	0.848
18	12699904	C	T	18	12699905	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon3:c.G220A:p.D74N;CEP76:NM_001271989:exon3:c.G220A:p.D74N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon3:c.G220A:p.D74N;ENSG00000101624:ENST00000587929:exon3:c.G220A:p.D74N;ENSG00000101624:ENST00000262127:exon3:c.G220A:p.D74N;	0.998995621293932	0.896
18	12699905	C	A	18	12699906	y	y	splicing	CEP76(NM_024899:exon4:c.220-1G>T;NM_001271989:exon4:c.220-1G>T)	.	.	splicing	ENSG00000101624(ENST00000262127:exon4:c.220-1G>T;ENST00000423709:exon4:c.220-1G>T;ENST00000587929:exon4:c.220-1G>T)	.	.	0.999990361384395	0.936
18	12699905	C	G	18	12699906	y	y	splicing	CEP76(NM_024899:exon4:c.220-1G>C;NM_001271989:exon4:c.220-1G>C)	.	.	splicing	ENSG00000101624(ENST00000262127:exon4:c.220-1G>C;ENST00000423709:exon4:c.220-1G>C;ENST00000587929:exon4:c.220-1G>C)	.	.	0.999990361384395	0.926
18	12699905	C	T	18	12699906	y	y	splicing	CEP76(NM_024899:exon4:c.220-1G>A;NM_001271989:exon4:c.220-1G>A)	.	.	splicing	ENSG00000101624(ENST00000262127:exon4:c.220-1G>A;ENST00000423709:exon4:c.220-1G>A;ENST00000587929:exon4:c.220-1G>A)	.	.	0.999990361384395	0.936
18	12699906	T	A	18	12699907	y	y	splicing	CEP76(NM_024899:exon4:c.220-2A>T;NM_001271989:exon4:c.220-2A>T)	.	.	splicing	ENSG00000101624(ENST00000262127:exon4:c.220-2A>T;ENST00000423709:exon4:c.220-2A>T;ENST00000587929:exon4:c.220-2A>T)	.	.	0.999988247793601	0.93
18	12699906	T	C	18	12699907	y	y	splicing	CEP76(NM_024899:exon4:c.220-2A>G;NM_001271989:exon4:c.220-2A>G)	.	.	splicing	ENSG00000101624(ENST00000262127:exon4:c.220-2A>G;ENST00000423709:exon4:c.220-2A>G;ENST00000587929:exon4:c.220-2A>G)	.	.	0.999988247793601	0.928
18	12699906	T	G	18	12699907	y	y	splicing	CEP76(NM_024899:exon4:c.220-2A>C;NM_001271989:exon4:c.220-2A>C)	.	.	splicing	ENSG00000101624(ENST00000262127:exon4:c.220-2A>C;ENST00000423709:exon4:c.220-2A>C;ENST00000587929:exon4:c.220-2A>C)	.	.	0.999988247793601	0.928
18	12699907	A	C	18	12699908	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.28811322709744	0.574
18	12699907	A	G	18	12699908	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.11759736702852E-4	0.01
18	12699907	A	T	18	12699908	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00143014079527172	0.162
18	12699908	G	A	18	12699909	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	8.46089050540666E-5	0.002
18	12699908	G	C	18	12699909	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.40483975873136E-4	0.016
18	12699908	G	T	18	12699909	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.98344339077004E-4	0.006
18	12699909	A	C	18	12699910	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.944600059749298	0.762
18	12699909	A	G	18	12699910	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.474746474929393	0.47
18	12699909	A	T	18	12699910	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.943350139142343	0.756
18	12699910	A	C	18	12699911	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.04317102140352	0.306
18	12699910	A	G	18	12699911	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0036329538679013	0.038
18	12699910	A	T	18	12699911	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0484655257489097	0.362
18	12699911	A	C	18	12699912	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00162681840096753	0.072
18	12699911	A	G	18	12699912	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.34164365927455E-4	0.012
18	12699911	A	T	18	12699912	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0033860838771682	0.084
18	12699912	G	A	18	12699913	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.25791368525837E-4	0.014
18	12699912	G	C	18	12699913	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00143387601024571	0.07
18	12699912	G	T	18	12699913	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00325000208316925	0.086
18	12699913	G	A	18	12699914	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.59192367608611E-5	0.0
18	12699913	G	C	18	12699914	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.94403401414786E-4	0.07
18	12699913	G	T	18	12699914	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.94487795097344E-4	0.032
18	12699914	C	A	18	12699915	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.95274895512644E-5	0.028
18	12699914	C	G	18	12699915	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.23299306118601E-5	0.034
18	12699914	C	T	18	12699915	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.21835473239771E-4	0.032
18	12699915	A	C	18	12699916	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.37064677136982E-5	0.192
18	12699915	A	G	18	12699916	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.51975254520234E-5	0.096
18	12699915	A	T	18	12699916	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999753686212526	0.86
18	12699916	G	A	18	12699917	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.49261455387665E-5	0.006
18	12699916	G	C	18	12699917	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	3.58860007323817E-4	0.032
18	12699916	G	T	18	12699917	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.05693427031103E-4	0.03
18	12700949	T	A	18	12700950	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.80906919523768E-4	0.004
18	12700949	T	C	18	12700950	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.58143985448613E-4	0.0
18	12700949	T	G	18	12700950	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.58143985448613E-4	0.0
18	12700950	T	A	18	12700951	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.08595947287115E-4	0.0
18	12700950	T	C	18	12700951	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.84831178818423E-5	0.002
18	12700950	T	G	18	12700951	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.84831178818423E-5	0.0
18	12700951	A	C	18	12700952	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.991562070830669	0.832
18	12700951	A	G	18	12700952	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.993782279669825	0.88
18	12700951	A	T	18	12700952	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.997207508535251	0.812
18	12700952	C	A	18	12700953	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999956029266333	0.98
18	12700952	C	G	18	12700953	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999981167081963	0.982
18	12700952	C	T	18	12700953	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999975608520607	0.992
18	12700953	T	A	18	12700954	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999178370524049	0.918
18	12700953	T	C	18	12700954	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999169717095547	0.874
18	12700953	T	G	18	12700954	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.988258873060608	0.784
18	12700954	C	A	18	12700955	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.991664632679864	0.67
18	12700954	C	G	18	12700955	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.995450517336892	0.68
18	12700954	C	T	18	12700955	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	5.25841230494792E-5	0.002
18	12700955	A	C	18	12700956	y	y	splicing	CEP76(NM_024899:exon3:c.219+2T>G;NM_001271989:exon3:c.219+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.219+2T>G;ENST00000262127:exon3:c.219+2T>G;ENST00000423709:exon3:c.219+2T>G;ENST00000593250:exon3:c.219+2T>G;ENST00000587929:exon3:c.219+2T>G)	.	.	0.999989917668626	0.922
18	12700955	A	G	18	12700956	y	y	splicing	CEP76(NM_024899:exon3:c.219+2T>C;NM_001271989:exon3:c.219+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.219+2T>C;ENST00000262127:exon3:c.219+2T>C;ENST00000423709:exon3:c.219+2T>C;ENST00000593250:exon3:c.219+2T>C;ENST00000587929:exon3:c.219+2T>C)	.	.	0.999945495543047	0.874
18	12700955	A	T	18	12700956	y	y	splicing	CEP76(NM_024899:exon3:c.219+2T>A;NM_001271989:exon3:c.219+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.219+2T>A;ENST00000262127:exon3:c.219+2T>A;ENST00000423709:exon3:c.219+2T>A;ENST00000593250:exon3:c.219+2T>A;ENST00000587929:exon3:c.219+2T>A)	.	.	0.999989917668626	0.922
18	12700956	C	A	18	12700957	y	y	splicing	CEP76(NM_024899:exon3:c.219+1G>T;NM_001271989:exon3:c.219+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.219+1G>T;ENST00000262127:exon3:c.219+1G>T;ENST00000423709:exon3:c.219+1G>T;ENST00000593250:exon3:c.219+1G>T;ENST00000587929:exon3:c.219+1G>T)	.	.	0.999986675681007	0.93
18	12700956	C	G	18	12700957	y	y	splicing	CEP76(NM_024899:exon3:c.219+1G>C;NM_001271989:exon3:c.219+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.219+1G>C;ENST00000262127:exon3:c.219+1G>C;ENST00000423709:exon3:c.219+1G>C;ENST00000593250:exon3:c.219+1G>C;ENST00000587929:exon3:c.219+1G>C)	.	.	0.999986675681007	0.93
18	12700956	C	T	18	12700957	y	y	splicing	CEP76(NM_024899:exon3:c.219+1G>A;NM_001271989:exon3:c.219+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.219+1G>A;ENST00000262127:exon3:c.219+1G>A;ENST00000423709:exon3:c.219+1G>A;ENST00000593250:exon3:c.219+1G>A;ENST00000587929:exon3:c.219+1G>A)	.	.	0.999986675681007	0.93
18	12700957	A	C	18	12700958	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon2:c.T219G:p.T73T;CEP76:NM_001271989:exon2:c.T219G:p.T73T;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.T219G:p.T73T;ENSG00000101624:ENST00000587929:exon2:c.T219G:p.T73T;ENSG00000101624:ENST00000593250:exon2:c.T219G:p.T73T;ENSG00000101624:ENST00000262127:exon2:c.T219G:p.T73T;ENSG00000101624:ENST00000590143:exon2:c.T219G:p.T73T;	5.49203327239073E-5	0.022
18	12700957	A	G	18	12700958	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon2:c.T219C:p.T73T;CEP76:NM_001271989:exon2:c.T219C:p.T73T;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.T219C:p.T73T;ENSG00000101624:ENST00000587929:exon2:c.T219C:p.T73T;ENSG00000101624:ENST00000593250:exon2:c.T219C:p.T73T;ENSG00000101624:ENST00000262127:exon2:c.T219C:p.T73T;ENSG00000101624:ENST00000590143:exon2:c.T219C:p.T73T;	1.59606171078243E-4	0.24
18	12700957	A	T	18	12700958	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon2:c.T219A:p.T73T;CEP76:NM_001271989:exon2:c.T219A:p.T73T;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.T219A:p.T73T;ENSG00000101624:ENST00000587929:exon2:c.T219A:p.T73T;ENSG00000101624:ENST00000593250:exon2:c.T219A:p.T73T;ENSG00000101624:ENST00000262127:exon2:c.T219A:p.T73T;ENSG00000101624:ENST00000590143:exon2:c.T219A:p.T73T;	2.98608926998527E-5	0.014
18	12700958	G	A	18	12700959	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.C218T:p.T73I;CEP76:NM_001271989:exon2:c.C218T:p.T73I;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.C218T:p.T73I;ENSG00000101624:ENST00000587929:exon2:c.C218T:p.T73I;ENSG00000101624:ENST00000593250:exon2:c.C218T:p.T73I;ENSG00000101624:ENST00000262127:exon2:c.C218T:p.T73I;ENSG00000101624:ENST00000590143:exon2:c.C218T:p.T73I;	0.0514129501137485	0.132
18	12700958	G	C	18	12700959	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.C218G:p.T73S;CEP76:NM_001271989:exon2:c.C218G:p.T73S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.C218G:p.T73S;ENSG00000101624:ENST00000587929:exon2:c.C218G:p.T73S;ENSG00000101624:ENST00000593250:exon2:c.C218G:p.T73S;ENSG00000101624:ENST00000262127:exon2:c.C218G:p.T73S;ENSG00000101624:ENST00000590143:exon2:c.C218G:p.T73S;	0.0032493771061411	0.154
18	12700958	G	T	18	12700959	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.C218A:p.T73N;CEP76:NM_001271989:exon2:c.C218A:p.T73N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.C218A:p.T73N;ENSG00000101624:ENST00000587929:exon2:c.C218A:p.T73N;ENSG00000101624:ENST00000593250:exon2:c.C218A:p.T73N;ENSG00000101624:ENST00000262127:exon2:c.C218A:p.T73N;ENSG00000101624:ENST00000590143:exon2:c.C218A:p.T73N;	0.00395383299621854	0.108
18	12700959	T	A	18	12700960	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.A217T:p.T73S;CEP76:NM_001271989:exon2:c.A217T:p.T73S;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.A217T:p.T73S;ENSG00000101624:ENST00000587929:exon2:c.A217T:p.T73S;ENSG00000101624:ENST00000593250:exon2:c.A217T:p.T73S;ENSG00000101624:ENST00000262127:exon2:c.A217T:p.T73S;ENSG00000101624:ENST00000590143:exon2:c.A217T:p.T73S;	0.00628598787959477	0.25
18	12700959	T	C	18	12700960	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.A217G:p.T73A;CEP76:NM_001271989:exon2:c.A217G:p.T73A;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.A217G:p.T73A;ENSG00000101624:ENST00000587929:exon2:c.A217G:p.T73A;ENSG00000101624:ENST00000593250:exon2:c.A217G:p.T73A;ENSG00000101624:ENST00000262127:exon2:c.A217G:p.T73A;ENSG00000101624:ENST00000590143:exon2:c.A217G:p.T73A;	0.00969770909520982	0.194
18	12700959	T	G	18	12700960	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.A217C:p.T73P;CEP76:NM_001271989:exon2:c.A217C:p.T73P;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.A217C:p.T73P;ENSG00000101624:ENST00000587929:exon2:c.A217C:p.T73P;ENSG00000101624:ENST00000593250:exon2:c.A217C:p.T73P;ENSG00000101624:ENST00000262127:exon2:c.A217C:p.T73P;ENSG00000101624:ENST00000590143:exon2:c.A217C:p.T73P;	5.37577062519231E-4	0.02
18	12701111	A	C	18	12701112	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.T65G:p.M22R;CEP76:NM_001271989:exon2:c.T65G:p.M22R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.T65G:p.M22R;ENSG00000101624:ENST00000587929:exon2:c.T65G:p.M22R;ENSG00000101624:ENST00000593250:exon2:c.T65G:p.M22R;ENSG00000101624:ENST00000262127:exon2:c.T65G:p.M22R;ENSG00000101624:ENST00000590143:exon2:c.T65G:p.M22R;	0.417276969283068	0.154
18	12701111	A	G	18	12701112	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.T65C:p.M22T;CEP76:NM_001271989:exon2:c.T65C:p.M22T;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.T65C:p.M22T;ENSG00000101624:ENST00000587929:exon2:c.T65C:p.M22T;ENSG00000101624:ENST00000593250:exon2:c.T65C:p.M22T;ENSG00000101624:ENST00000262127:exon2:c.T65C:p.M22T;ENSG00000101624:ENST00000590143:exon2:c.T65C:p.M22T;	0.00325824565384478	0.04
18	12701111	A	T	18	12701112	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.T65A:p.M22K;CEP76:NM_001271989:exon2:c.T65A:p.M22K;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.T65A:p.M22K;ENSG00000101624:ENST00000587929:exon2:c.T65A:p.M22K;ENSG00000101624:ENST00000593250:exon2:c.T65A:p.M22K;ENSG00000101624:ENST00000262127:exon2:c.T65A:p.M22K;ENSG00000101624:ENST00000590143:exon2:c.T65A:p.M22K;	0.353246786689958	0.386
18	12701112	T	A	18	12701113	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.A64T:p.M22L;CEP76:NM_001271989:exon2:c.A64T:p.M22L;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.A64T:p.M22L;ENSG00000101624:ENST00000587929:exon2:c.A64T:p.M22L;ENSG00000101624:ENST00000593250:exon2:c.A64T:p.M22L;ENSG00000101624:ENST00000262127:exon2:c.A64T:p.M22L;ENSG00000101624:ENST00000590143:exon2:c.A64T:p.M22L;	0.39014143661932	0.724
18	12701112	T	C	18	12701113	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.A64G:p.M22V;CEP76:NM_001271989:exon2:c.A64G:p.M22V;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.A64G:p.M22V;ENSG00000101624:ENST00000587929:exon2:c.A64G:p.M22V;ENSG00000101624:ENST00000593250:exon2:c.A64G:p.M22V;ENSG00000101624:ENST00000262127:exon2:c.A64G:p.M22V;ENSG00000101624:ENST00000590143:exon2:c.A64G:p.M22V;	0.00713195020102633	0.158
18	12701112	T	G	18	12701113	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon2:c.A64C:p.M22L;CEP76:NM_001271989:exon2:c.A64C:p.M22L;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon2:c.A64C:p.M22L;ENSG00000101624:ENST00000587929:exon2:c.A64C:p.M22L;ENSG00000101624:ENST00000593250:exon2:c.A64C:p.M22L;ENSG00000101624:ENST00000262127:exon2:c.A64C:p.M22L;ENSG00000101624:ENST00000590143:exon2:c.A64C:p.M22L;	0.538395445752139	0.716
18	12701113	C	A	18	12701114	y	y	splicing	CEP76(NM_024899:exon3:c.64-1G>T;NM_001271989:exon3:c.64-1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.64-1G>T;ENST00000262127:exon3:c.64-1G>T;ENST00000423709:exon3:c.64-1G>T;ENST00000593250:exon3:c.64-1G>T;ENST00000587929:exon3:c.64-1G>T)	.	.	0.999963247997021	0.82
18	12701113	C	G	18	12701114	y	y	splicing	CEP76(NM_024899:exon3:c.64-1G>C;NM_001271989:exon3:c.64-1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.64-1G>C;ENST00000262127:exon3:c.64-1G>C;ENST00000423709:exon3:c.64-1G>C;ENST00000593250:exon3:c.64-1G>C;ENST00000587929:exon3:c.64-1G>C)	.	.	0.999963247997021	0.83
18	12701113	C	T	18	12701114	y	y	splicing	CEP76(NM_024899:exon3:c.64-1G>A;NM_001271989:exon3:c.64-1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.64-1G>A;ENST00000262127:exon3:c.64-1G>A;ENST00000423709:exon3:c.64-1G>A;ENST00000593250:exon3:c.64-1G>A;ENST00000587929:exon3:c.64-1G>A)	.	.	0.999963247997021	0.822
18	12701114	T	A	18	12701115	y	y	splicing	CEP76(NM_024899:exon3:c.64-2A>T;NM_001271989:exon3:c.64-2A>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.64-2A>T;ENST00000262127:exon3:c.64-2A>T;ENST00000423709:exon3:c.64-2A>T;ENST00000593250:exon3:c.64-2A>T;ENST00000587929:exon3:c.64-2A>T)	.	.	0.999966140856146	0.72
18	12701114	T	C	18	12701115	y	y	splicing	CEP76(NM_024899:exon3:c.64-2A>G;NM_001271989:exon3:c.64-2A>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.64-2A>G;ENST00000262127:exon3:c.64-2A>G;ENST00000423709:exon3:c.64-2A>G;ENST00000593250:exon3:c.64-2A>G;ENST00000587929:exon3:c.64-2A>G)	.	.	0.999966140856146	0.728
18	12701114	T	G	18	12701115	y	y	splicing	CEP76(NM_024899:exon3:c.64-2A>C;NM_001271989:exon3:c.64-2A>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon3:c.64-2A>C;ENST00000262127:exon3:c.64-2A>C;ENST00000423709:exon3:c.64-2A>C;ENST00000593250:exon3:c.64-2A>C;ENST00000587929:exon3:c.64-2A>C)	.	.	0.999966140856146	0.73
18	12701115	A	C	18	12701116	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.993650913416205	0.002
18	12701115	A	G	18	12701116	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	6.83316790165401E-5	0.002
18	12701115	A	T	18	12701116	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.139031287914066	0.0
18	12701116	T	A	18	12701117	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.24339405279506E-4	0.002
18	12701116	T	C	18	12701117	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	7.77456461983434E-4	0.0
18	12701116	T	G	18	12701117	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.12581597765867E-4	0.0
18	12701117	G	A	18	12701118	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	9.16811292047004E-4	0.002
18	12701117	G	C	18	12701118	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.999682751762728	0.01
18	12701117	G	T	18	12701118	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.010303282604589	0.05
18	12701118	T	A	18	12701119	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.94615721382208E-5	0.002
18	12701118	T	C	18	12701119	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	4.86186773450452E-5	0.0
18	12701118	T	G	18	12701119	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	2.94615721382208E-5	0.0
18	12701119	A	C	18	12701120	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.10372562616459	0.002
18	12701119	A	G	18	12701120	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	1.97888340929527E-4	0.002
18	12701119	A	T	18	12701120	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.776297464198568	0.0
18	12701120	G	A	18	12701121	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00177937798573801	0.002
18	12701120	G	C	18	12701121	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0073745620334368	0.004
18	12701120	G	T	18	12701121	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.336631658179478	0.002
18	12701121	A	C	18	12701122	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.94154870078278	0.058
18	12701121	A	G	18	12701122	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.00550834663540795	0.06
18	12701121	A	T	18	12701122	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.974371749240802	0.074
18	12701122	A	C	18	12701123	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.968668540987911	0.452
18	12701122	A	G	18	12701123	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.187595951068043	0.454
18	12701122	A	T	18	12701123	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.989688217388532	0.5
18	12701123	A	C	18	12701124	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.983113941798719	0.18
18	12701123	A	G	18	12701124	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.686665218746456	0.18
18	12701123	A	T	18	12701124	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.99964090066724	0.204
18	12701124	A	C	18	12701125	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.966874863097912	0.138
18	12701124	A	G	18	12701125	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.0157890998713256	0.138
18	12701124	A	T	18	12701125	y	y	intronic	CEP76;PSMG2	.	.	intronic	ENSG00000101624;ENSG00000128789	.	.	0.973782215475281	0.148
18	12702477	A	C	18	12702478	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	7.51929058365292E-5	0.056
18	12702477	A	G	18	12702478	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	7.91859483442316E-5	0.056
18	12702477	A	T	18	12702478	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	1.15533582301344E-4	0.034
18	12702478	C	A	18	12702479	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	1.05897235703598E-4	0.006
18	12702478	C	G	18	12702479	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	1.39185983677581E-4	0.024
18	12702478	C	T	18	12702479	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	2.84728948461963E-4	0.078
18	12702479	T	A	18	12702480	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	2.42539974819301E-5	0.09
18	12702479	T	C	18	12702480	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	2.94718607375682E-4	0.062
18	12702479	T	G	18	12702480	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	1.47205468670966E-4	0.102
18	12702480	C	A	18	12702481	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	0.997825433634167	0.762
18	12702480	C	G	18	12702481	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	0.993622903459372	0.83
18	12702480	C	T	18	12702481	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	0.996604623094972	0.866
18	12702481	T	A	18	12702482	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	0.997817947514712	0.742
18	12702481	T	C	18	12702482	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	0.99609400505814	0.778
18	12702481	T	G	18	12702482	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	0.988380361387407	0.594
18	12702482	C	A	18	12702483	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	0.565803766758126	0.592
18	12702482	C	G	18	12702483	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	0.747205971154075	0.622
18	12702482	C	T	18	12702483	y	y	intronic	CEP76;PSMG2	.	.	UTR5	ENSG00000128789	.	.	3.84815920558704E-4	0.048
18	12702483	A	C	18	12702484	y	y	splicing	CEP76(NM_024899:exon2:c.63+2T>G;NM_001271989:exon2:c.63+2T>G)	.	.	splicing	ENSG00000101624(ENST00000590143:exon2:c.63+2T>G;ENST00000262127:exon2:c.63+2T>G;ENST00000423709:exon2:c.63+2T>G;ENST00000593250:exon2:c.63+2T>G;ENST00000587929:exon2:c.63+2T>G)	.	.	0.999988307841649	0.916
18	12702483	A	G	18	12702484	y	y	splicing	CEP76(NM_024899:exon2:c.63+2T>C;NM_001271989:exon2:c.63+2T>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon2:c.63+2T>C;ENST00000262127:exon2:c.63+2T>C;ENST00000423709:exon2:c.63+2T>C;ENST00000593250:exon2:c.63+2T>C;ENST00000587929:exon2:c.63+2T>C)	.	.	0.999972480864311	0.874
18	12702483	A	T	18	12702484	y	y	splicing	CEP76(NM_024899:exon2:c.63+2T>A;NM_001271989:exon2:c.63+2T>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon2:c.63+2T>A;ENST00000262127:exon2:c.63+2T>A;ENST00000423709:exon2:c.63+2T>A;ENST00000593250:exon2:c.63+2T>A;ENST00000587929:exon2:c.63+2T>A)	.	.	0.999988307841649	0.916
18	12702484	C	A	18	12702485	y	y	splicing	CEP76(NM_024899:exon2:c.63+1G>T;NM_001271989:exon2:c.63+1G>T)	.	.	splicing	ENSG00000101624(ENST00000590143:exon2:c.63+1G>T;ENST00000262127:exon2:c.63+1G>T;ENST00000423709:exon2:c.63+1G>T;ENST00000593250:exon2:c.63+1G>T;ENST00000587929:exon2:c.63+1G>T)	.	.	0.999988247793601	0.93
18	12702484	C	G	18	12702485	y	y	splicing	CEP76(NM_024899:exon2:c.63+1G>C;NM_001271989:exon2:c.63+1G>C)	.	.	splicing	ENSG00000101624(ENST00000590143:exon2:c.63+1G>C;ENST00000262127:exon2:c.63+1G>C;ENST00000423709:exon2:c.63+1G>C;ENST00000593250:exon2:c.63+1G>C;ENST00000587929:exon2:c.63+1G>C)	.	.	0.999988247793601	0.93
18	12702484	C	T	18	12702485	y	y	splicing	CEP76(NM_024899:exon2:c.63+1G>A;NM_001271989:exon2:c.63+1G>A)	.	.	splicing	ENSG00000101624(ENST00000590143:exon2:c.63+1G>A;ENST00000262127:exon2:c.63+1G>A;ENST00000423709:exon2:c.63+1G>A;ENST00000593250:exon2:c.63+1G>A;ENST00000587929:exon2:c.63+1G>A)	.	.	0.999988247793601	0.93
18	12702485	C	A	18	12702486	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon1:c.G63T:p.K21N;CEP76:NM_001271989:exon1:c.G63T:p.K21N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon1:c.G63T:p.K21N;ENSG00000101624:ENST00000587929:exon1:c.G63T:p.K21N;ENSG00000101624:ENST00000593250:exon1:c.G63T:p.K21N;ENSG00000101624:ENST00000262127:exon1:c.G63T:p.K21N;ENSG00000101624:ENST00000590143:exon1:c.G63T:p.K21N;	0.999804369806838	0.956
18	12702485	C	G	18	12702486	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon1:c.G63C:p.K21N;CEP76:NM_001271989:exon1:c.G63C:p.K21N;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon1:c.G63C:p.K21N;ENSG00000101624:ENST00000587929:exon1:c.G63C:p.K21N;ENSG00000101624:ENST00000593250:exon1:c.G63C:p.K21N;ENSG00000101624:ENST00000262127:exon1:c.G63C:p.K21N;ENSG00000101624:ENST00000590143:exon1:c.G63C:p.K21N;	0.999980667412211	0.988
18	12702485	C	T	18	12702486	y	y	exonic	CEP76	synonymous SNV	CEP76:NM_024899:exon1:c.G63A:p.K21K;CEP76:NM_001271989:exon1:c.G63A:p.K21K;	exonic	ENSG00000101624	synonymous SNV	ENSG00000101624:ENST00000423709:exon1:c.G63A:p.K21K;ENSG00000101624:ENST00000587929:exon1:c.G63A:p.K21K;ENSG00000101624:ENST00000593250:exon1:c.G63A:p.K21K;ENSG00000101624:ENST00000262127:exon1:c.G63A:p.K21K;ENSG00000101624:ENST00000590143:exon1:c.G63A:p.K21K;	0.999889698427658	0.97
18	12702486	T	A	18	12702487	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon1:c.A62T:p.K21M;CEP76:NM_001271989:exon1:c.A62T:p.K21M;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon1:c.A62T:p.K21M;ENSG00000101624:ENST00000587929:exon1:c.A62T:p.K21M;ENSG00000101624:ENST00000593250:exon1:c.A62T:p.K21M;ENSG00000101624:ENST00000262127:exon1:c.A62T:p.K21M;ENSG00000101624:ENST00000590143:exon1:c.A62T:p.K21M;	0.999541459139911	0.97
18	12702486	T	C	18	12702487	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon1:c.A62G:p.K21R;CEP76:NM_001271989:exon1:c.A62G:p.K21R;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon1:c.A62G:p.K21R;ENSG00000101624:ENST00000587929:exon1:c.A62G:p.K21R;ENSG00000101624:ENST00000593250:exon1:c.A62G:p.K21R;ENSG00000101624:ENST00000262127:exon1:c.A62G:p.K21R;ENSG00000101624:ENST00000590143:exon1:c.A62G:p.K21R;	0.996812575806582	0.916
18	12702486	T	G	18	12702487	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon1:c.A62C:p.K21T;CEP76:NM_001271989:exon1:c.A62C:p.K21T;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon1:c.A62C:p.K21T;ENSG00000101624:ENST00000587929:exon1:c.A62C:p.K21T;ENSG00000101624:ENST00000593250:exon1:c.A62C:p.K21T;ENSG00000101624:ENST00000262127:exon1:c.A62C:p.K21T;ENSG00000101624:ENST00000590143:exon1:c.A62C:p.K21T;	0.98455851675568	0.92
18	12702487	T	A	18	12702488	y	y	exonic	CEP76	stopgain SNV	CEP76:NM_024899:exon1:c.A61T:p.K21X;CEP76:NM_001271989:exon1:c.A61T:p.K21X;	exonic	ENSG00000101624	stopgain SNV	ENSG00000101624:ENST00000423709:exon1:c.A61T:p.K21X;ENSG00000101624:ENST00000587929:exon1:c.A61T:p.K21X;ENSG00000101624:ENST00000593250:exon1:c.A61T:p.K21X;ENSG00000101624:ENST00000262127:exon1:c.A61T:p.K21X;ENSG00000101624:ENST00000590143:exon1:c.A61T:p.K21X;	0.890726604044142	0.808
18	12702487	T	C	18	12702488	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon1:c.A61G:p.K21E;CEP76:NM_001271989:exon1:c.A61G:p.K21E;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon1:c.A61G:p.K21E;ENSG00000101624:ENST00000587929:exon1:c.A61G:p.K21E;ENSG00000101624:ENST00000593250:exon1:c.A61G:p.K21E;ENSG00000101624:ENST00000262127:exon1:c.A61G:p.K21E;ENSG00000101624:ENST00000590143:exon1:c.A61G:p.K21E;	0.289110503427767	0.682
18	12702487	T	G	18	12702488	y	y	exonic	CEP76	nonsynonymous SNV	CEP76:NM_024899:exon1:c.A61C:p.K21Q;CEP76:NM_001271989:exon1:c.A61C:p.K21Q;	exonic	ENSG00000101624	nonsynonymous SNV	ENSG00000101624:ENST00000423709:exon1:c.A61C:p.K21Q;ENSG00000101624:ENST00000587929:exon1:c.A61C:p.K21Q;ENSG00000101624:ENST00000593250:exon1:c.A61C:p.K21Q;ENSG00000101624:ENST00000262127:exon1:c.A61C:p.K21Q;ENSG00000101624:ENST00000590143:exon1:c.A61C:p.K21Q;	0.170286588963292	0.638
18	12703161	A	C	18	12703162	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.A55C:p.M19L;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.A55C:p.M19L;ENSG00000128789:ENST00000586587:exon1:c.A55C:p.M19L;ENSG00000128789:ENST00000590217:exon1:c.A55C:p.M19L;	7.1596750044127E-4	0.076
18	12703161	A	G	18	12703162	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.A55G:p.M19V;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.A55G:p.M19V;ENSG00000128789:ENST00000586587:exon1:c.A55G:p.M19V;ENSG00000128789:ENST00000590217:exon1:c.A55G:p.M19V;	0.0015353855020118	0.028
18	12703161	A	T	18	12703162	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.A55T:p.M19L;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.A55T:p.M19L;ENSG00000128789:ENST00000586587:exon1:c.A55T:p.M19L;ENSG00000128789:ENST00000590217:exon1:c.A55T:p.M19L;	0.00134819016775453	0.092
18	12703162	T	A	18	12703163	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.T56A:p.M19K;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.T56A:p.M19K;ENSG00000128789:ENST00000586587:exon1:c.T56A:p.M19K;ENSG00000128789:ENST00000590217:exon1:c.T56A:p.M19K;	0.423095093862753	0.706
18	12703162	T	C	18	12703163	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.T56C:p.M19T;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.T56C:p.M19T;ENSG00000128789:ENST00000586587:exon1:c.T56C:p.M19T;ENSG00000128789:ENST00000590217:exon1:c.T56C:p.M19T;	0.0241429005558621	0.152
18	12703162	T	G	18	12703163	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.T56G:p.M19R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.T56G:p.M19R;ENSG00000128789:ENST00000586587:exon1:c.T56G:p.M19R;ENSG00000128789:ENST00000590217:exon1:c.T56G:p.M19R;	0.860219991668877	0.736
18	12703163	G	A	18	12703164	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.G57A:p.M19I;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.G57A:p.M19I;ENSG00000128789:ENST00000586587:exon1:c.G57A:p.M19I;ENSG00000128789:ENST00000590217:exon1:c.G57A:p.M19I;	0.999173042809466	0.958
18	12703163	G	C	18	12703164	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.G57C:p.M19I;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.G57C:p.M19I;ENSG00000128789:ENST00000586587:exon1:c.G57C:p.M19I;ENSG00000128789:ENST00000590217:exon1:c.G57C:p.M19I;	0.998957074227257	0.892
18	12703163	G	T	18	12703164	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon1:c.G57T:p.M19I;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon1:c.G57T:p.M19I;ENSG00000128789:ENST00000586587:exon1:c.G57T:p.M19I;ENSG00000128789:ENST00000590217:exon1:c.G57T:p.M19I;	0.997805152119275	0.898
18	12703164	G	A	18	12703165	y	y	splicing	PSMG2(NM_020232:exon1:c.57+1G>A)	.	.	splicing	ENSG00000128789(ENST00000317615:exon1:c.57+1G>A;ENST00000590217:exon1:c.57+1G>A;ENST00000586587:exon1:c.57+1G>A)	.	.	0.99996509239462	0.946
18	12703164	G	C	18	12703165	y	y	splicing	PSMG2(NM_020232:exon1:c.57+1G>C)	.	.	splicing	ENSG00000128789(ENST00000317615:exon1:c.57+1G>C;ENST00000590217:exon1:c.57+1G>C;ENST00000586587:exon1:c.57+1G>C)	.	.	0.999965414246739	0.946
18	12703164	G	T	18	12703165	y	y	splicing	PSMG2(NM_020232:exon1:c.57+1G>T)	.	.	splicing	ENSG00000128789(ENST00000317615:exon1:c.57+1G>T;ENST00000590217:exon1:c.57+1G>T;ENST00000586587:exon1:c.57+1G>T)	.	.	0.999965414246739	0.948
18	12703165	T	A	18	12703166	y	y	splicing	PSMG2(NM_020232:exon1:c.57+2T>A)	.	.	splicing	ENSG00000128789(ENST00000317615:exon1:c.57+2T>A;ENST00000590217:exon1:c.57+2T>A;ENST00000586587:exon1:c.57+2T>A)	.	.	0.999978791067592	0.944
18	12703165	T	C	18	12703166	y	y	splicing	PSMG2(NM_020232:exon1:c.57+2T>C)	.	.	splicing	ENSG00000128789(ENST00000317615:exon1:c.57+2T>C;ENST00000590217:exon1:c.57+2T>C;ENST00000586587:exon1:c.57+2T>C)	.	.	0.99989869396571	0.9
18	12703165	T	G	18	12703166	y	y	splicing	PSMG2(NM_020232:exon1:c.57+2T>G)	.	.	splicing	ENSG00000128789(ENST00000317615:exon1:c.57+2T>G;ENST00000590217:exon1:c.57+2T>G;ENST00000586587:exon1:c.57+2T>G)	.	.	0.999978986619032	0.944
18	12703166	G	A	18	12703167	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00869020231689342	0.032
18	12703166	G	C	18	12703167	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.920035023009112	0.65
18	12703166	G	T	18	12703167	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.710176829350101	0.57
18	12703167	A	C	18	12703168	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.761636256899307	0.362
18	12703167	A	G	18	12703168	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.978178146696115	0.636
18	12703167	A	T	18	12703168	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.995228507394498	0.604
18	12703168	G	A	18	12703169	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999761480087638	0.956
18	12703168	G	C	18	12703169	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999943737490747	0.95
18	12703168	G	T	18	12703169	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999797129391234	0.896
18	12703169	T	A	18	12703170	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.867825540261865	0.536
18	12703169	T	C	18	12703170	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.704783186516297	0.366
18	12703169	T	G	18	12703170	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.405347022675849	0.392
18	12703170	C	A	18	12703171	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.9188670368541E-4	0.008
18	12703170	C	G	18	12703171	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.94681809685598E-4	0.002
18	12703170	C	T	18	12703171	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.94681809685598E-4	0.002
18	12703171	T	A	18	12703172	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.12967067026397E-4	0.004
18	12703171	T	C	18	12703172	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.03362613279778E-4	0.004
18	12703171	T	G	18	12703172	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.12967067026397E-4	0.004
18	12706537	T	A	18	12706538	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.981560651242162	0.734
18	12706537	T	C	18	12706538	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00494301282653923	0.09
18	12706537	T	G	18	12706538	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.975939268775395	0.718
18	12706538	T	A	18	12706539	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.990793835590308	0.756
18	12706538	T	C	18	12706539	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00571904219593897	0.2
18	12706538	T	G	18	12706539	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.991294319766131	0.716
18	12706539	A	C	18	12706540	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.76870376101231E-5	0.048
18	12706539	A	G	18	12706540	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.28101511417737E-4	0.068
18	12706539	A	T	18	12706540	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.91226961070856E-5	0.05
18	12706540	T	A	18	12706541	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.429292326262795	0.35
18	12706540	T	C	18	12706541	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	8.37611936013868E-5	0.062
18	12706540	T	G	18	12706541	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999925477168964	0.912
18	12706541	A	C	18	12706542	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.92480278418788E-5	0.022
18	12706541	A	G	18	12706542	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.31958491842272E-4	0.028
18	12706541	A	T	18	12706542	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.39015935539434E-5	0.018
18	12706542	A	C	18	12706543	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.7880046569471E-5	0.008
18	12706542	A	G	18	12706543	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999484139878042	0.992
18	12706542	A	T	18	12706543	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	8.98850490531248E-5	0.016
18	12706543	T	A	18	12706544	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.565254154161852	0.586
18	12706543	T	C	18	12706544	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.16777865130196E-4	0.086
18	12706543	T	G	18	12706544	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999949740647389	0.968
18	12706544	T	A	18	12706545	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.977817257568211	0.694
18	12706544	T	C	18	12706545	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.239553068094419	0.23
18	12706544	T	G	18	12706545	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.983573188561537	0.698
18	12706545	T	A	18	12706546	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.65440843007162E-4	0.014
18	12706545	T	C	18	12706546	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.04972256809996E-4	0.032
18	12706545	T	G	18	12706546	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.01942932662008E-4	0.052
18	12706546	C	A	18	12706547	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.975703663082106	0.808
18	12706546	C	G	18	12706547	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999809523136175	0.968
18	12706546	C	T	18	12706547	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0245686533090762	0.16
18	12706547	A	C	18	12706548	y	y	splicing	PSMG2(NM_020232:exon2:c.58-2A>C)	.	.	splicing	ENSG00000128789(ENST00000586445:exon2:c.82-2A>C;ENST00000317615:exon2:c.58-2A>C;ENST00000590217:exon2:c.58-2A>C;ENST00000586587:exon2:c.58-2A>C)	.	.	0.999992689121502	0.93
18	12706547	A	G	18	12706548	y	y	splicing	PSMG2(NM_020232:exon2:c.58-2A>G)	.	.	splicing	ENSG00000128789(ENST00000586445:exon2:c.82-2A>G;ENST00000317615:exon2:c.58-2A>G;ENST00000590217:exon2:c.58-2A>G;ENST00000586587:exon2:c.58-2A>G)	.	.	0.999992689121502	0.93
18	12706547	A	T	18	12706548	y	y	splicing	PSMG2(NM_020232:exon2:c.58-2A>T)	.	.	splicing	ENSG00000128789(ENST00000586445:exon2:c.82-2A>T;ENST00000317615:exon2:c.58-2A>T;ENST00000590217:exon2:c.58-2A>T;ENST00000586587:exon2:c.58-2A>T)	.	.	0.999992689121502	0.93
18	12706548	G	A	18	12706549	y	y	splicing	PSMG2(NM_020232:exon2:c.58-1G>A)	.	.	splicing	ENSG00000128789(ENST00000586445:exon2:c.82-1G>A;ENST00000317615:exon2:c.58-1G>A;ENST00000590217:exon2:c.58-1G>A;ENST00000586587:exon2:c.58-1G>A)	.	.	0.999984967332678	0.934
18	12706548	G	C	18	12706549	y	y	splicing	PSMG2(NM_020232:exon2:c.58-1G>C)	.	.	splicing	ENSG00000128789(ENST00000586445:exon2:c.82-1G>C;ENST00000317615:exon2:c.58-1G>C;ENST00000590217:exon2:c.58-1G>C;ENST00000586587:exon2:c.58-1G>C)	.	.	0.999984967332678	0.934
18	12706548	G	T	18	12706549	y	y	splicing	PSMG2(NM_020232:exon2:c.58-1G>T)	.	.	splicing	ENSG00000128789(ENST00000586445:exon2:c.82-1G>T;ENST00000317615:exon2:c.58-1G>T;ENST00000590217:exon2:c.58-1G>T;ENST00000586587:exon2:c.58-1G>T)	.	.	0.999984967332678	0.934
18	12706549	C	A	18	12706550	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon2:c.C58A:p.P20T;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon2:c.C58A:p.P20T;ENSG00000128789:ENST00000586587:exon2:c.C58A:p.P20T;ENSG00000128789:ENST00000590217:exon2:c.C58A:p.P20T;ENSG00000128789:ENST00000586445:exon2:c.C82A:p.P28T;	0.928160985426764	0.786
18	12706549	C	G	18	12706550	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon2:c.C58G:p.P20A;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon2:c.C58G:p.P20A;ENSG00000128789:ENST00000586587:exon2:c.C58G:p.P20A;ENSG00000128789:ENST00000590217:exon2:c.C58G:p.P20A;ENSG00000128789:ENST00000586445:exon2:c.C82G:p.P28A;	0.942530222414032	0.756
18	12706549	C	T	18	12706550	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon2:c.C58T:p.P20S;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon2:c.C58T:p.P20S;ENSG00000128789:ENST00000586587:exon2:c.C58T:p.P20S;ENSG00000128789:ENST00000590217:exon2:c.C58T:p.P20S;ENSG00000128789:ENST00000586445:exon2:c.C82T:p.P28S;	0.995357877270617	0.898
18	12706550	C	A	18	12706551	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon2:c.C59A:p.P20Q;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon2:c.C59A:p.P20Q;ENSG00000128789:ENST00000586587:exon2:c.C59A:p.P20Q;ENSG00000128789:ENST00000590217:exon2:c.C59A:p.P20Q;ENSG00000128789:ENST00000586445:exon2:c.C83A:p.P28Q;	0.989822905772476	0.852
18	12706550	C	G	18	12706551	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon2:c.C59G:p.P20R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon2:c.C59G:p.P20R;ENSG00000128789:ENST00000586587:exon2:c.C59G:p.P20R;ENSG00000128789:ENST00000590217:exon2:c.C59G:p.P20R;ENSG00000128789:ENST00000586445:exon2:c.C83G:p.P28R;	0.975555163981362	0.75
18	12706550	C	T	18	12706551	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_020232:exon2:c.C59T:p.P20L;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000317615:exon2:c.C59T:p.P20L;ENSG00000128789:ENST00000586587:exon2:c.C59T:p.P20L;ENSG00000128789:ENST00000590217:exon2:c.C59T:p.P20L;ENSG00000128789:ENST00000586445:exon2:c.C83T:p.P28L;	0.968187996714689	0.802
18	12706718	A	C	18	12706719	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon2:c.A134C:p.E45A;PSMG2:NM_020232:exon2:c.A227C:p.E76A;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.A134C:p.E45A;ENSG00000128789:ENST00000317615:exon2:c.A227C:p.E76A;ENSG00000128789:ENST00000586587:exon2:c.A227C:p.E76A;ENSG00000128789:ENST00000590217:exon2:c.A227C:p.E76A;ENSG00000128789:ENST00000586445:exon2:c.A251C:p.E84A;	0.818704896425727	0.576
18	12706718	A	G	18	12706719	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon2:c.A134G:p.E45G;PSMG2:NM_020232:exon2:c.A227G:p.E76G;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.A134G:p.E45G;ENSG00000128789:ENST00000317615:exon2:c.A227G:p.E76G;ENSG00000128789:ENST00000586587:exon2:c.A227G:p.E76G;ENSG00000128789:ENST00000590217:exon2:c.A227G:p.E76G;ENSG00000128789:ENST00000586445:exon2:c.A251G:p.E84G;	0.36761530310851	0.362
18	12706718	A	T	18	12706719	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon2:c.A134T:p.E45V;PSMG2:NM_020232:exon2:c.A227T:p.E76V;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.A134T:p.E45V;ENSG00000128789:ENST00000317615:exon2:c.A227T:p.E76V;ENSG00000128789:ENST00000586587:exon2:c.A227T:p.E76V;ENSG00000128789:ENST00000590217:exon2:c.A227T:p.E76V;ENSG00000128789:ENST00000586445:exon2:c.A251T:p.E84V;	0.906764239516713	0.604
18	12706719	A	C	18	12706720	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon2:c.A135C:p.E45D;PSMG2:NM_020232:exon2:c.A228C:p.E76D;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.A135C:p.E45D;ENSG00000128789:ENST00000317615:exon2:c.A228C:p.E76D;ENSG00000128789:ENST00000586587:exon2:c.A228C:p.E76D;ENSG00000128789:ENST00000590217:exon2:c.A228C:p.E76D;ENSG00000128789:ENST00000586445:exon2:c.A252C:p.E84D;	0.482962557832279	0.63
18	12706719	A	G	18	12706720	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon2:c.A135G:p.E45E;PSMG2:NM_020232:exon2:c.A228G:p.E76E;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.A135G:p.E45E;ENSG00000128789:ENST00000317615:exon2:c.A228G:p.E76E;ENSG00000128789:ENST00000586587:exon2:c.A228G:p.E76E;ENSG00000128789:ENST00000590217:exon2:c.A228G:p.E76E;ENSG00000128789:ENST00000586445:exon2:c.A252G:p.E84E;	0.496139729164257	0.454
18	12706719	A	T	18	12706720	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon2:c.A135T:p.E45D;PSMG2:NM_020232:exon2:c.A228T:p.E76D;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.A135T:p.E45D;ENSG00000128789:ENST00000317615:exon2:c.A228T:p.E76D;ENSG00000128789:ENST00000586587:exon2:c.A228T:p.E76D;ENSG00000128789:ENST00000590217:exon2:c.A228T:p.E76D;ENSG00000128789:ENST00000586445:exon2:c.A252T:p.E84D;	0.966831436549163	0.674
18	12706720	G	A	18	12706721	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon2:c.G136A:p.V46M;PSMG2:NM_020232:exon2:c.G229A:p.V77M;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.G136A:p.V46M;ENSG00000128789:ENST00000317615:exon2:c.G229A:p.V77M;ENSG00000128789:ENST00000586587:exon2:c.G229A:p.V77M;ENSG00000128789:ENST00000590217:exon2:c.G229A:p.V77M;ENSG00000128789:ENST00000586445:exon2:c.G253A:p.V85M;	0.999902371612392	0.936
18	12706720	G	C	18	12706721	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon2:c.G136C:p.V46L;PSMG2:NM_020232:exon2:c.G229C:p.V77L;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.G136C:p.V46L;ENSG00000128789:ENST00000317615:exon2:c.G229C:p.V77L;ENSG00000128789:ENST00000586587:exon2:c.G229C:p.V77L;ENSG00000128789:ENST00000590217:exon2:c.G229C:p.V77L;ENSG00000128789:ENST00000586445:exon2:c.G253C:p.V85L;	0.999967113273929	0.976
18	12706720	G	T	18	12706721	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon2:c.G136T:p.V46L;PSMG2:NM_020232:exon2:c.G229T:p.V77L;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon2:c.G136T:p.V46L;ENSG00000128789:ENST00000317615:exon2:c.G229T:p.V77L;ENSG00000128789:ENST00000586587:exon2:c.G229T:p.V77L;ENSG00000128789:ENST00000590217:exon2:c.G229T:p.V77L;ENSG00000128789:ENST00000586445:exon2:c.G253T:p.V85L;	0.999973941794689	0.97
18	12706721	G	A	18	12706722	y	y	splicing	PSMG2(NM_147163:exon2:c.136+1G>A;NM_020232:exon2:c.229+1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon2:c.136+1G>A;ENST00000586445:exon2:c.253+1G>A;ENST00000317615:exon2:c.229+1G>A;ENST00000590217:exon2:c.229+1G>A;ENST00000586587:exon2:c.229+1G>A)	.	.	0.999988247793601	0.936
18	12706721	G	C	18	12706722	y	y	splicing	PSMG2(NM_147163:exon2:c.136+1G>C;NM_020232:exon2:c.229+1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon2:c.136+1G>C;ENST00000586445:exon2:c.253+1G>C;ENST00000317615:exon2:c.229+1G>C;ENST00000590217:exon2:c.229+1G>C;ENST00000586587:exon2:c.229+1G>C)	.	.	0.999988247793601	0.936
18	12706721	G	T	18	12706722	y	y	splicing	PSMG2(NM_147163:exon2:c.136+1G>T;NM_020232:exon2:c.229+1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon2:c.136+1G>T;ENST00000586445:exon2:c.253+1G>T;ENST00000317615:exon2:c.229+1G>T;ENST00000590217:exon2:c.229+1G>T;ENST00000586587:exon2:c.229+1G>T)	.	.	0.999988247793601	0.936
18	12706722	T	A	18	12706723	y	y	splicing	PSMG2(NM_147163:exon2:c.136+2T>A;NM_020232:exon2:c.229+2T>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon2:c.136+2T>A;ENST00000586445:exon2:c.253+2T>A;ENST00000317615:exon2:c.229+2T>A;ENST00000590217:exon2:c.229+2T>A;ENST00000586587:exon2:c.229+2T>A)	.	.	0.999993519952936	0.93
18	12706722	T	C	18	12706723	y	y	splicing	PSMG2(NM_147163:exon2:c.136+2T>C;NM_020232:exon2:c.229+2T>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon2:c.136+2T>C;ENST00000586445:exon2:c.253+2T>C;ENST00000317615:exon2:c.229+2T>C;ENST00000590217:exon2:c.229+2T>C;ENST00000586587:exon2:c.229+2T>C)	.	.	0.988502993399679	0.588
18	12706722	T	G	18	12706723	y	y	splicing	PSMG2(NM_147163:exon2:c.136+2T>G;NM_020232:exon2:c.229+2T>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon2:c.136+2T>G;ENST00000586445:exon2:c.253+2T>G;ENST00000317615:exon2:c.229+2T>G;ENST00000590217:exon2:c.229+2T>G;ENST00000586587:exon2:c.229+2T>G)	.	.	0.999993519952936	0.928
18	12706723	A	C	18	12706724	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.997507235240212	0.8
18	12706723	A	G	18	12706724	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0829579423104818	0.632
18	12706723	A	T	18	12706724	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.848558876077864	0.57
18	12706724	T	A	18	12706725	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.49764176487245E-5	0.07
18	12706724	T	C	18	12706725	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.88833629564517E-5	0.014
18	12706724	T	G	18	12706725	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.87660735855861E-5	0.004
18	12706725	G	A	18	12706726	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.815984097244765	0.516
18	12706725	G	C	18	12706726	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.857424394194849	0.592
18	12706725	G	T	18	12706726	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.867709563845174	0.596
18	12706726	T	A	18	12706727	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0144891871879279	0.16
18	12706726	T	C	18	12706727	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00857260377445417	0.168
18	12706726	T	G	18	12706727	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0025578142614686	0.144
18	12706727	A	C	18	12706728	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.82827935381688E-5	0.0
18	12706727	A	G	18	12706728	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.14468490257208E-5	0.0
18	12706727	A	T	18	12706728	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.25788420748545E-5	0.0
18	12706728	A	C	18	12706729	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.28782214463755E-4	0.014
18	12706728	A	G	18	12706729	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.69884688945688E-4	0.012
18	12706728	A	T	18	12706729	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.08739841361144E-4	0.01
18	12712689	T	A	18	12712690	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00443257290328382	0.12
18	12712689	T	C	18	12712690	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.28713778401785E-4	0.024
18	12712689	T	G	18	12712690	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00112497330669064	0.096
18	12712690	T	A	18	12712691	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999858130604069	0.926
18	12712690	T	C	18	12712691	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.89302483044956E-4	0.106
18	12712690	T	G	18	12712691	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00182779474362647	0.208
18	12712691	G	A	18	12712692	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.3636607063668E-4	0.016
18	12712691	G	C	18	12712692	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	9.04951984052605E-5	0.002
18	12712691	G	T	18	12712692	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	6.7640386617242E-5	0.002
18	12712692	T	A	18	12712693	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	7.04529448067252E-4	0.158
18	12712692	T	C	18	12712693	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.18335699357002E-4	0.002
18	12712692	T	G	18	12712693	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	6.76991726205867E-4	0.092
18	12712693	T	A	18	12712694	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.45471433470693E-4	0.024
18	12712693	T	C	18	12712694	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.10653196097156E-5	0.002
18	12712693	T	G	18	12712694	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.81881865986091E-4	0.026
18	12712694	T	A	18	12712695	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00183876568416542	0.068
18	12712694	T	C	18	12712695	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.06039941276654E-5	0.0
18	12712694	T	G	18	12712695	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.97869729394812E-4	0.032
18	12712695	T	A	18	12712696	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00376958378110867	0.184
18	12712695	T	C	18	12712696	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.7129857672896E-4	0.012
18	12712695	T	G	18	12712696	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00467476639276458	0.124
18	12712696	T	A	18	12712697	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.22638893400804E-4	0.102
18	12712696	T	C	18	12712697	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.17571639503497E-4	0.0
18	12712696	T	G	18	12712697	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00115050146340287	0.082
18	12712697	A	C	18	12712698	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.74681157269616E-5	0.0
18	12712697	A	G	18	12712698	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.09897891980447E-5	0.004
18	12712697	A	T	18	12712698	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.27201120455854E-5	0.002
18	12712698	T	A	18	12712699	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	8.07370770668181E-4	0.054
18	12712698	T	C	18	12712699	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	6.11836067329167E-5	0.004
18	12712698	T	G	18	12712699	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.99474948256808	0.65
18	12712699	A	C	18	12712700	y	y	splicing	PSMG2(NM_147163:exon3:c.137-2A>C;NM_020232:exon3:c.230-2A>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.137-2A>C;ENST00000586445:exon3:c.254-2A>C;ENST00000317615:exon3:c.230-2A>C;ENST00000590217:exon3:c.230-2A>C;ENST00000586587:exon3:c.230-2A>C)	.	.	0.999989917668626	0.924
18	12712699	A	G	18	12712700	y	y	splicing	PSMG2(NM_147163:exon3:c.137-2A>G;NM_020232:exon3:c.230-2A>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.137-2A>G;ENST00000586445:exon3:c.254-2A>G;ENST00000317615:exon3:c.230-2A>G;ENST00000590217:exon3:c.230-2A>G;ENST00000586587:exon3:c.230-2A>G)	.	.	0.999989917668626	0.924
18	12712699	A	T	18	12712700	y	y	splicing	PSMG2(NM_147163:exon3:c.137-2A>T;NM_020232:exon3:c.230-2A>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.137-2A>T;ENST00000586445:exon3:c.254-2A>T;ENST00000317615:exon3:c.230-2A>T;ENST00000590217:exon3:c.230-2A>T;ENST00000586587:exon3:c.230-2A>T)	.	.	0.999989917668626	0.924
18	12712700	G	A	18	12712701	y	y	splicing	PSMG2(NM_147163:exon3:c.137-1G>A;NM_020232:exon3:c.230-1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.137-1G>A;ENST00000586445:exon3:c.254-1G>A;ENST00000317615:exon3:c.230-1G>A;ENST00000590217:exon3:c.230-1G>A;ENST00000586587:exon3:c.230-1G>A)	.	.	0.999986675681007	0.916
18	12712700	G	C	18	12712701	y	y	splicing	PSMG2(NM_147163:exon3:c.137-1G>C;NM_020232:exon3:c.230-1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.137-1G>C;ENST00000586445:exon3:c.254-1G>C;ENST00000317615:exon3:c.230-1G>C;ENST00000590217:exon3:c.230-1G>C;ENST00000586587:exon3:c.230-1G>C)	.	.	0.999986675681007	0.928
18	12712700	G	T	18	12712701	y	y	splicing	PSMG2(NM_147163:exon3:c.137-1G>T;NM_020232:exon3:c.230-1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.137-1G>T;ENST00000586445:exon3:c.254-1G>T;ENST00000317615:exon3:c.230-1G>T;ENST00000590217:exon3:c.230-1G>T;ENST00000586587:exon3:c.230-1G>T)	.	.	0.999986675681007	0.928
18	12712701	T	A	18	12712702	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.T137A:p.V46E;PSMG2:NM_020232:exon3:c.T230A:p.V77E;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.T137A:p.V46E;ENSG00000128789:ENST00000317615:exon3:c.T230A:p.V77E;ENSG00000128789:ENST00000586587:exon3:c.T230A:p.V77E;ENSG00000128789:ENST00000590217:exon3:c.T230A:p.V77E;ENSG00000128789:ENST00000586445:exon3:c.T254A:p.V85E;	0.452182836954206	0.638
18	12712701	T	C	18	12712702	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.T137C:p.V46A;PSMG2:NM_020232:exon3:c.T230C:p.V77A;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.T137C:p.V46A;ENSG00000128789:ENST00000317615:exon3:c.T230C:p.V77A;ENSG00000128789:ENST00000586587:exon3:c.T230C:p.V77A;ENSG00000128789:ENST00000590217:exon3:c.T230C:p.V77A;ENSG00000128789:ENST00000586445:exon3:c.T254C:p.V85A;	0.738671987773711	0.592
18	12712701	T	G	18	12712702	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.T137G:p.V46G;PSMG2:NM_020232:exon3:c.T230G:p.V77G;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.T137G:p.V46G;ENSG00000128789:ENST00000317615:exon3:c.T230G:p.V77G;ENSG00000128789:ENST00000586587:exon3:c.T230G:p.V77G;ENSG00000128789:ENST00000590217:exon3:c.T230G:p.V77G;ENSG00000128789:ENST00000586445:exon3:c.T254G:p.V85G;	0.0260676584558637	0.194
18	12712702	G	A	18	12712703	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon3:c.G138A:p.V46V;PSMG2:NM_020232:exon3:c.G231A:p.V77V;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.G138A:p.V46V;ENSG00000128789:ENST00000317615:exon3:c.G231A:p.V77V;ENSG00000128789:ENST00000586587:exon3:c.G231A:p.V77V;ENSG00000128789:ENST00000590217:exon3:c.G231A:p.V77V;ENSG00000128789:ENST00000586445:exon3:c.G255A:p.V85V;	8.1789260683122E-5	0.002
18	12712702	G	C	18	12712703	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon3:c.G138C:p.V46V;PSMG2:NM_020232:exon3:c.G231C:p.V77V;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.G138C:p.V46V;ENSG00000128789:ENST00000317615:exon3:c.G231C:p.V77V;ENSG00000128789:ENST00000586587:exon3:c.G231C:p.V77V;ENSG00000128789:ENST00000590217:exon3:c.G231C:p.V77V;ENSG00000128789:ENST00000586445:exon3:c.G255C:p.V85V;	4.10448313771322E-5	0.0
18	12712702	G	T	18	12712703	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon3:c.G138T:p.V46V;PSMG2:NM_020232:exon3:c.G231T:p.V77V;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.G138T:p.V46V;ENSG00000128789:ENST00000317615:exon3:c.G231T:p.V77V;ENSG00000128789:ENST00000586587:exon3:c.G231T:p.V77V;ENSG00000128789:ENST00000590217:exon3:c.G231T:p.V77V;ENSG00000128789:ENST00000586445:exon3:c.G255T:p.V85V;	1.31362141453498E-5	0.012
18	12712757	A	C	18	12712758	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.A193C:p.K65Q;PSMG2:NM_020232:exon3:c.A286C:p.K96Q;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.A193C:p.K65Q;ENSG00000128789:ENST00000317615:exon3:c.A286C:p.K96Q;ENSG00000128789:ENST00000586587:exon3:c.A286C:p.K96Q;ENSG00000128789:ENST00000590217:exon3:c.A286C:p.K96Q;ENSG00000128789:ENST00000586445:exon3:c.A310C:p.K104Q;	0.0574165897062373	0.252
18	12712757	A	G	18	12712758	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.A193G:p.K65E;PSMG2:NM_020232:exon3:c.A286G:p.K96E;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.A193G:p.K65E;ENSG00000128789:ENST00000317615:exon3:c.A286G:p.K96E;ENSG00000128789:ENST00000586587:exon3:c.A286G:p.K96E;ENSG00000128789:ENST00000590217:exon3:c.A286G:p.K96E;ENSG00000128789:ENST00000586445:exon3:c.A310G:p.K104E;	0.211329145657135	0.398
18	12712757	A	T	18	12712758	y	y	exonic	PSMG2	stopgain SNV	PSMG2:NM_147163:exon3:c.A193T:p.K65X;PSMG2:NM_020232:exon3:c.A286T:p.K96X;	exonic	ENSG00000128789	stopgain SNV	ENSG00000128789:ENST00000585331:exon3:c.A193T:p.K65X;ENSG00000128789:ENST00000317615:exon3:c.A286T:p.K96X;ENSG00000128789:ENST00000586587:exon3:c.A286T:p.K96X;ENSG00000128789:ENST00000590217:exon3:c.A286T:p.K96X;ENSG00000128789:ENST00000586445:exon3:c.A310T:p.K104X;	0.930092393370975	0.646
18	12712758	A	C	18	12712759	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.A194C:p.K65T;PSMG2:NM_020232:exon3:c.A287C:p.K96T;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.A194C:p.K65T;ENSG00000128789:ENST00000317615:exon3:c.A287C:p.K96T;ENSG00000128789:ENST00000586587:exon3:c.A287C:p.K96T;ENSG00000128789:ENST00000590217:exon3:c.A287C:p.K96T;ENSG00000128789:ENST00000586445:exon3:c.A311C:p.K104T;	0.98769631953255	0.912
18	12712758	A	G	18	12712759	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.A194G:p.K65R;PSMG2:NM_020232:exon3:c.A287G:p.K96R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.A194G:p.K65R;ENSG00000128789:ENST00000317615:exon3:c.A287G:p.K96R;ENSG00000128789:ENST00000586587:exon3:c.A287G:p.K96R;ENSG00000128789:ENST00000590217:exon3:c.A287G:p.K96R;ENSG00000128789:ENST00000586445:exon3:c.A311G:p.K104R;	0.995305875763067	0.922
18	12712758	A	T	18	12712759	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.A194T:p.K65M;PSMG2:NM_020232:exon3:c.A287T:p.K96M;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.A194T:p.K65M;ENSG00000128789:ENST00000317615:exon3:c.A287T:p.K96M;ENSG00000128789:ENST00000586587:exon3:c.A287T:p.K96M;ENSG00000128789:ENST00000590217:exon3:c.A287T:p.K96M;ENSG00000128789:ENST00000586445:exon3:c.A311T:p.K104M;	0.992269660269148	0.864
18	12712759	G	A	18	12712760	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon3:c.G195A:p.K65K;PSMG2:NM_020232:exon3:c.G288A:p.K96K;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.G195A:p.K65K;ENSG00000128789:ENST00000317615:exon3:c.G288A:p.K96K;ENSG00000128789:ENST00000586587:exon3:c.G288A:p.K96K;ENSG00000128789:ENST00000590217:exon3:c.G288A:p.K96K;ENSG00000128789:ENST00000586445:exon3:c.G312A:p.K104K;	0.99446183090948	0.912
18	12712759	G	C	18	12712760	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.G195C:p.K65N;PSMG2:NM_020232:exon3:c.G288C:p.K96N;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.G195C:p.K65N;ENSG00000128789:ENST00000317615:exon3:c.G288C:p.K96N;ENSG00000128789:ENST00000586587:exon3:c.G288C:p.K96N;ENSG00000128789:ENST00000590217:exon3:c.G288C:p.K96N;ENSG00000128789:ENST00000586445:exon3:c.G312C:p.K104N;	0.999968112064729	0.924
18	12712759	G	T	18	12712760	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon3:c.G195T:p.K65N;PSMG2:NM_020232:exon3:c.G288T:p.K96N;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon3:c.G195T:p.K65N;ENSG00000128789:ENST00000317615:exon3:c.G288T:p.K96N;ENSG00000128789:ENST00000586587:exon3:c.G288T:p.K96N;ENSG00000128789:ENST00000590217:exon3:c.G288T:p.K96N;ENSG00000128789:ENST00000586445:exon3:c.G312T:p.K104N;	0.999861738702582	0.966
18	12712760	G	A	18	12712761	y	y	splicing	PSMG2(NM_147163:exon3:c.195+1G>A;NM_020232:exon3:c.288+1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.195+1G>A;ENST00000586445:exon3:c.312+1G>A;ENST00000317615:exon3:c.288+1G>A;ENST00000590217:exon3:c.288+1G>A;ENST00000586587:exon3:c.288+1G>A)	.	.	0.999986675681007	0.926
18	12712760	G	C	18	12712761	y	y	splicing	PSMG2(NM_147163:exon3:c.195+1G>C;NM_020232:exon3:c.288+1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.195+1G>C;ENST00000586445:exon3:c.312+1G>C;ENST00000317615:exon3:c.288+1G>C;ENST00000590217:exon3:c.288+1G>C;ENST00000586587:exon3:c.288+1G>C)	.	.	0.999986675681007	0.926
18	12712760	G	T	18	12712761	y	y	splicing	PSMG2(NM_147163:exon3:c.195+1G>T;NM_020232:exon3:c.288+1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.195+1G>T;ENST00000586445:exon3:c.312+1G>T;ENST00000317615:exon3:c.288+1G>T;ENST00000590217:exon3:c.288+1G>T;ENST00000586587:exon3:c.288+1G>T)	.	.	0.999986675681007	0.926
18	12712761	T	A	18	12712762	y	y	splicing	PSMG2(NM_147163:exon3:c.195+2T>A;NM_020232:exon3:c.288+2T>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.195+2T>A;ENST00000586445:exon3:c.312+2T>A;ENST00000317615:exon3:c.288+2T>A;ENST00000590217:exon3:c.288+2T>A;ENST00000586587:exon3:c.288+2T>A)	.	.	0.999988247793601	0.928
18	12712761	T	C	18	12712762	y	y	splicing	PSMG2(NM_147163:exon3:c.195+2T>C;NM_020232:exon3:c.288+2T>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.195+2T>C;ENST00000586445:exon3:c.312+2T>C;ENST00000317615:exon3:c.288+2T>C;ENST00000590217:exon3:c.288+2T>C;ENST00000586587:exon3:c.288+2T>C)	.	.	0.99295178357233	0.62
18	12712761	T	G	18	12712762	y	y	splicing	PSMG2(NM_147163:exon3:c.195+2T>G;NM_020232:exon3:c.288+2T>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon3:c.195+2T>G;ENST00000586445:exon3:c.312+2T>G;ENST00000317615:exon3:c.288+2T>G;ENST00000590217:exon3:c.288+2T>G;ENST00000586587:exon3:c.288+2T>G)	.	.	0.999988247793601	0.928
18	12712762	T	A	18	12712763	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	9.12710717548995E-4	0.06
18	12712762	T	C	18	12712763	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.85826277718375E-4	0.004
18	12712762	T	G	18	12712763	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	7.76021672220074E-4	0.026
18	12712763	A	C	18	12712764	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.236192921365212	0.28
18	12712763	A	G	18	12712764	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.275736599960526	0.296
18	12712763	A	T	18	12712764	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.338762204779522	0.282
18	12712764	G	A	18	12712765	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999729018296866	0.968
18	12712764	G	C	18	12712765	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999778937230941	0.836
18	12712764	G	T	18	12712765	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.997479518255566	0.882
18	12712765	T	A	18	12712766	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.79378819861015	0.724
18	12712765	T	C	18	12712766	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.758277582543851	0.784
18	12712765	T	G	18	12712766	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.640759596684488	0.608
18	12712766	A	C	18	12712767	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.63781692334092E-5	0.0
18	12712766	A	G	18	12712767	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.20864745704218E-5	0.004
18	12712766	A	T	18	12712767	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.19747534488572E-5	0.002
18	12712767	T	A	18	12712768	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0317522186844066	0.124
18	12712767	T	C	18	12712768	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0265754751060727	0.052
18	12712767	T	G	18	12712768	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0265754751060727	0.058
18	12718504	T	A	18	12718505	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999204745910171	0.874
18	12718504	T	C	18	12718505	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.526864551610681	0.384
18	12718504	T	G	18	12718505	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.998544315379003	0.852
18	12718505	G	A	18	12718506	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999672159630464	0.974
18	12718505	G	C	18	12718506	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.88409442981402E-4	0.06
18	12718505	G	T	18	12718506	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.66770566432639E-4	0.15
18	12718506	G	A	18	12718507	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00191225283996687	0.044
18	12718506	G	C	18	12718507	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.32025646187532E-5	0.028
18	12718506	G	T	18	12718507	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.30394056532672E-5	0.038
18	12718507	T	A	18	12718508	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.99906189039124	0.864
18	12718507	T	C	18	12718508	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.31420932079442E-4	0.134
18	12718507	T	G	18	12718508	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.75724522503737	0.65
18	12718508	G	A	18	12718509	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00395188334722968	0.1
18	12718508	G	C	18	12718509	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.18696673093798E-5	0.024
18	12718508	G	T	18	12718509	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.08073628969137E-4	0.086
18	12718509	T	A	18	12718510	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999583149058847	0.842
18	12718509	T	C	18	12718510	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0162577620519917	0.14
18	12718509	T	G	18	12718510	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.912693148411596	0.69
18	12718510	G	A	18	12718511	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0012611919109	0.04
18	12718510	G	C	18	12718511	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.38522547815403E-5	0.044
18	12718510	G	T	18	12718511	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.95395729771095E-5	0.034
18	12718511	C	A	18	12718512	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.193655368788432	0.346
18	12718511	C	G	18	12718512	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.216920670976707	0.368
18	12718511	C	T	18	12718512	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00479253348757266	0.094
18	12718512	A	C	18	12718513	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00421376639685076	0.088
18	12718512	A	G	18	12718513	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.62372620996115E-4	0.088
18	12718512	A	T	18	12718513	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.5276670291765E-4	0.164
18	12718513	A	C	18	12718514	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	7.35754550645434E-4	0.116
18	12718513	A	G	18	12718514	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.118259085616993	0.28
18	12718513	A	T	18	12718514	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0018380394325221	0.102
18	12718514	A	C	18	12718515	y	y	splicing	PSMG2(NM_147163:exon4:c.196-2A>C;NM_020232:exon4:c.289-2A>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.196-2A>C;ENST00000586445:exon4:c.313-2A>C;ENST00000317615:exon4:c.289-2A>C;ENST00000590217:exon4:c.289-2A>C)	.	.	0.999905345038931	0.846
18	12718514	A	G	18	12718515	y	y	splicing	PSMG2(NM_147163:exon4:c.196-2A>G;NM_020232:exon4:c.289-2A>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.196-2A>G;ENST00000586445:exon4:c.313-2A>G;ENST00000317615:exon4:c.289-2A>G;ENST00000590217:exon4:c.289-2A>G)	.	.	0.999905345038931	0.844
18	12718514	A	T	18	12718515	y	y	splicing	PSMG2(NM_147163:exon4:c.196-2A>T;NM_020232:exon4:c.289-2A>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.196-2A>T;ENST00000586445:exon4:c.313-2A>T;ENST00000317615:exon4:c.289-2A>T;ENST00000590217:exon4:c.289-2A>T)	.	.	0.999915479061285	0.854
18	12718515	G	A	18	12718516	y	y	splicing	PSMG2(NM_147163:exon4:c.196-1G>A;NM_020232:exon4:c.289-1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.196-1G>A;ENST00000586445:exon4:c.313-1G>A;ENST00000317615:exon4:c.289-1G>A;ENST00000590217:exon4:c.289-1G>A)	.	.	0.999983122244869	0.85
18	12718515	G	C	18	12718516	y	y	splicing	PSMG2(NM_147163:exon4:c.196-1G>C;NM_020232:exon4:c.289-1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.196-1G>C;ENST00000586445:exon4:c.313-1G>C;ENST00000317615:exon4:c.289-1G>C;ENST00000590217:exon4:c.289-1G>C)	.	.	0.999966929472621	0.844
18	12718515	G	T	18	12718516	y	y	splicing	PSMG2(NM_147163:exon4:c.196-1G>T;NM_020232:exon4:c.289-1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.196-1G>T;ENST00000586445:exon4:c.313-1G>T;ENST00000317615:exon4:c.289-1G>T;ENST00000590217:exon4:c.289-1G>T)	.	.	0.999966929472621	0.844
18	12718516	T	A	18	12718517	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.T196A:p.Y66N;PSMG2:NM_020232:exon4:c.T289A:p.Y97N;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.T196A:p.Y66N;ENSG00000128789:ENST00000317615:exon4:c.T289A:p.Y97N;ENSG00000128789:ENST00000590217:exon4:c.T289A:p.Y97N;ENSG00000128789:ENST00000586445:exon4:c.T313A:p.Y105N;	1.31031862379792E-5	0.05
18	12718516	T	C	18	12718517	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.T196C:p.Y66H;PSMG2:NM_020232:exon4:c.T289C:p.Y97H;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.T196C:p.Y66H;ENSG00000128789:ENST00000317615:exon4:c.T289C:p.Y97H;ENSG00000128789:ENST00000590217:exon4:c.T289C:p.Y97H;ENSG00000128789:ENST00000586445:exon4:c.T313C:p.Y105H;	2.65508906798932E-4	0.054
18	12718516	T	G	18	12718517	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.T196G:p.Y66D;PSMG2:NM_020232:exon4:c.T289G:p.Y97D;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.T196G:p.Y66D;ENSG00000128789:ENST00000317615:exon4:c.T289G:p.Y97D;ENSG00000128789:ENST00000590217:exon4:c.T289G:p.Y97D;ENSG00000128789:ENST00000586445:exon4:c.T313G:p.Y105D;	3.68377621763599E-5	0.1
18	12718517	A	C	18	12718518	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.A197C:p.Y66S;PSMG2:NM_020232:exon4:c.A290C:p.Y97S;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.A197C:p.Y66S;ENSG00000128789:ENST00000317615:exon4:c.A290C:p.Y97S;ENSG00000128789:ENST00000590217:exon4:c.A290C:p.Y97S;ENSG00000128789:ENST00000586445:exon4:c.A314C:p.Y105S;	1.00394679277147E-4	0.168
18	12718517	A	G	18	12718518	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.A197G:p.Y66C;PSMG2:NM_020232:exon4:c.A290G:p.Y97C;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.A197G:p.Y66C;ENSG00000128789:ENST00000317615:exon4:c.A290G:p.Y97C;ENSG00000128789:ENST00000590217:exon4:c.A290G:p.Y97C;ENSG00000128789:ENST00000586445:exon4:c.A314G:p.Y105C;	0.00678400474915628	0.262
18	12718517	A	T	18	12718518	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.A197T:p.Y66F;PSMG2:NM_020232:exon4:c.A290T:p.Y97F;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.A197T:p.Y66F;ENSG00000128789:ENST00000317615:exon4:c.A290T:p.Y97F;ENSG00000128789:ENST00000590217:exon4:c.A290T:p.Y97F;ENSG00000128789:ENST00000586445:exon4:c.A314T:p.Y105F;	0.00564768155811189	0.268
18	12718632	T	A	18	12718633	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon4:c.T312A:p.R104R;PSMG2:NM_020232:exon4:c.T405A:p.R135R;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.T312A:p.R104R;ENSG00000128789:ENST00000317615:exon4:c.T405A:p.R135R;ENSG00000128789:ENST00000590217:exon4:c.T405A:p.R135R;ENSG00000128789:ENST00000586445:exon4:c.T429A:p.R143R;	1.33684777350849E-5	0.0
18	12718632	T	C	18	12718633	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon4:c.T312C:p.R104R;PSMG2:NM_020232:exon4:c.T405C:p.R135R;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.T312C:p.R104R;ENSG00000128789:ENST00000317615:exon4:c.T405C:p.R135R;ENSG00000128789:ENST00000590217:exon4:c.T405C:p.R135R;ENSG00000128789:ENST00000586445:exon4:c.T429C:p.R143R;	1.33684777350849E-5	0.0
18	12718632	T	G	18	12718633	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon4:c.T312G:p.R104R;PSMG2:NM_020232:exon4:c.T405G:p.R135R;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.T312G:p.R104R;ENSG00000128789:ENST00000317615:exon4:c.T405G:p.R135R;ENSG00000128789:ENST00000590217:exon4:c.T405G:p.R135R;ENSG00000128789:ENST00000586445:exon4:c.T429G:p.R143R;	2.33553628966187E-5	0.022
18	12718633	A	C	18	12718634	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.A313C:p.S105R;PSMG2:NM_020232:exon4:c.A406C:p.S136R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.A313C:p.S105R;ENSG00000128789:ENST00000317615:exon4:c.A406C:p.S136R;ENSG00000128789:ENST00000590217:exon4:c.A406C:p.S136R;ENSG00000128789:ENST00000586445:exon4:c.A430C:p.S144R;	0.0569979233852871	0.422
18	12718633	A	G	18	12718634	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.A313G:p.S105G;PSMG2:NM_020232:exon4:c.A406G:p.S136G;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.A313G:p.S105G;ENSG00000128789:ENST00000317615:exon4:c.A406G:p.S136G;ENSG00000128789:ENST00000590217:exon4:c.A406G:p.S136G;ENSG00000128789:ENST00000586445:exon4:c.A430G:p.S144G;	0.0760760740216401	0.52
18	12718633	A	T	18	12718634	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.A313T:p.S105C;PSMG2:NM_020232:exon4:c.A406T:p.S136C;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.A313T:p.S105C;ENSG00000128789:ENST00000317615:exon4:c.A406T:p.S136C;ENSG00000128789:ENST00000590217:exon4:c.A406T:p.S136C;ENSG00000128789:ENST00000586445:exon4:c.A430T:p.S144C;	0.965464460530192	0.756
18	12718634	G	A	18	12718635	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.G314A:p.S105N;PSMG2:NM_020232:exon4:c.G407A:p.S136N;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.G314A:p.S105N;ENSG00000128789:ENST00000317615:exon4:c.G407A:p.S136N;ENSG00000128789:ENST00000590217:exon4:c.G407A:p.S136N;ENSG00000128789:ENST00000586445:exon4:c.G431A:p.S144N;	0.999944625221791	0.992
18	12718634	G	C	18	12718635	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.G314C:p.S105T;PSMG2:NM_020232:exon4:c.G407C:p.S136T;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.G314C:p.S105T;ENSG00000128789:ENST00000317615:exon4:c.G407C:p.S136T;ENSG00000128789:ENST00000590217:exon4:c.G407C:p.S136T;ENSG00000128789:ENST00000586445:exon4:c.G431C:p.S144T;	0.999580254726807	0.832
18	12718634	G	T	18	12718635	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon4:c.G314T:p.S105I;PSMG2:NM_020232:exon4:c.G407T:p.S136I;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon4:c.G314T:p.S105I;ENSG00000128789:ENST00000317615:exon4:c.G407T:p.S136I;ENSG00000128789:ENST00000590217:exon4:c.G407T:p.S136I;ENSG00000128789:ENST00000586445:exon4:c.G431T:p.S144I;	0.999964111986962	0.994
18	12718635	G	A	18	12718636	y	y	splicing	PSMG2(NM_147163:exon4:c.314+1G>A;NM_020232:exon4:c.407+1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.314+1G>A;ENST00000586445:exon4:c.431+1G>A;ENST00000317615:exon4:c.407+1G>A;ENST00000590217:exon4:c.407+1G>A)	.	.	0.999938990645747	0.946
18	12718635	G	C	18	12718636	y	y	splicing	PSMG2(NM_147163:exon4:c.314+1G>C;NM_020232:exon4:c.407+1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.314+1G>C;ENST00000586445:exon4:c.431+1G>C;ENST00000317615:exon4:c.407+1G>C;ENST00000590217:exon4:c.407+1G>C)	.	.	0.999960200702261	0.944
18	12718635	G	T	18	12718636	y	y	splicing	PSMG2(NM_147163:exon4:c.314+1G>T;NM_020232:exon4:c.407+1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.314+1G>T;ENST00000586445:exon4:c.431+1G>T;ENST00000317615:exon4:c.407+1G>T;ENST00000590217:exon4:c.407+1G>T)	.	.	0.999960200702261	0.944
18	12718636	T	A	18	12718637	y	y	splicing	PSMG2(NM_147163:exon4:c.314+2T>A;NM_020232:exon4:c.407+2T>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.314+2T>A;ENST00000586445:exon4:c.431+2T>A;ENST00000317615:exon4:c.407+2T>A;ENST00000590217:exon4:c.407+2T>A)	.	.	0.999978156327223	0.93
18	12718636	T	C	18	12718637	y	y	splicing	PSMG2(NM_147163:exon4:c.314+2T>C;NM_020232:exon4:c.407+2T>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.314+2T>C;ENST00000586445:exon4:c.431+2T>C;ENST00000317615:exon4:c.407+2T>C;ENST00000590217:exon4:c.407+2T>C)	.	.	0.982783432270315	0.606
18	12718636	T	G	18	12718637	y	y	splicing	PSMG2(NM_147163:exon4:c.314+2T>G;NM_020232:exon4:c.407+2T>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon4:c.314+2T>G;ENST00000586445:exon4:c.431+2T>G;ENST00000317615:exon4:c.407+2T>G;ENST00000590217:exon4:c.407+2T>G)	.	.	0.999978156327223	0.928
18	12718637	A	C	18	12718638	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.998271454712452	0.89
18	12718637	A	G	18	12718638	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.971960593820716	0.698
18	12718637	A	T	18	12718638	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.996522441720866	0.848
18	12718638	T	A	18	12718639	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.66793402883243E-4	0.078
18	12718638	T	C	18	12718639	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.96690032928569E-5	0.016
18	12718638	T	G	18	12718639	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.26249013262937E-5	0.002
18	12718639	G	A	18	12718640	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.992841370343606	0.742
18	12718639	G	C	18	12718640	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999739204390924	0.816
18	12718639	G	T	18	12718640	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.982440712668122	0.654
18	12718640	T	A	18	12718641	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.100561626264602	0.162
18	12718640	T	C	18	12718641	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0406177265036534	0.244
18	12718640	T	G	18	12718641	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0162139894285017	0.146
18	12718641	T	A	18	12718642	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.2549006801343E-5	0.044
18	12718641	T	C	18	12718642	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.2549006801343E-5	0.002
18	12718641	T	G	18	12718642	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.21599610917379E-5	0.0
18	12718642	T	A	18	12718643	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.22660495981372E-5	0.0
18	12718642	T	C	18	12718643	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.81159136363845E-5	0.0
18	12718642	T	G	18	12718643	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.81159136363845E-5	0.0
18	12720497	G	A	18	12720498	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.16497499203552E-5	0.0
18	12720497	G	C	18	12720498	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.19803011827097E-5	0.004
18	12720497	G	T	18	12720498	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.25828208285831E-5	0.018
18	12720498	A	C	18	12720499	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.86323692631347E-4	0.008
18	12720498	A	G	18	12720499	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.4135050433357E-4	0.04
18	12720498	A	T	18	12720499	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00132638130021695	0.09
18	12720499	T	A	18	12720500	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999526843704461	0.902
18	12720499	T	C	18	12720500	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.739305657495412	0.426
18	12720499	T	G	18	12720500	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999938531126048	0.96
18	12720500	T	A	18	12720501	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.76978683807778	0.606
18	12720500	T	C	18	12720501	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00322500542615488	0.094
18	12720500	T	G	18	12720501	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.805008330908974	0.714
18	12720501	A	C	18	12720502	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.60342987069694E-5	0.012
18	12720501	A	G	18	12720502	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.21458733528031E-5	0.002
18	12720501	A	T	18	12720502	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.60342987069694E-5	0.022
18	12720502	T	A	18	12720503	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.271406105963241	0.288
18	12720502	T	C	18	12720503	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00426278988152115	0.118
18	12720502	T	G	18	12720503	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999935969297764	0.976
18	12720503	T	A	18	12720504	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.993071263477891	0.81
18	12720503	T	C	18	12720504	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00206926868900023	0.108
18	12720503	T	G	18	12720504	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.987834238604742	0.744
18	12720504	T	A	18	12720505	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.987184357890362	0.676
18	12720504	T	C	18	12720505	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0474260022235419	0.194
18	12720504	T	G	18	12720505	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.992133349364613	0.7
18	12720505	C	A	18	12720506	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00128147216819172	0.08
18	12720505	C	G	18	12720506	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0104604647230975	0.158
18	12720505	C	T	18	12720506	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	9.13890561496216E-5	0.026
18	12720506	T	A	18	12720507	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.709493669612533	0.508
18	12720506	T	C	18	12720507	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	7.41416700941081E-4	0.016
18	12720506	T	G	18	12720507	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.99168139807304	0.694
18	12720507	A	C	18	12720508	y	y	splicing	PSMG2(NM_147163:exon5:c.315-2A>C;NM_020232:exon5:c.408-2A>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.315-2A>C;ENST00000586445:exon5:c.432-2A>C;ENST00000317615:exon5:c.408-2A>C;ENST00000590217:exon5:c.408-2A>C)	.	.	0.999991478261395	0.938
18	12720507	A	G	18	12720508	y	y	splicing	PSMG2(NM_147163:exon5:c.315-2A>G;NM_020232:exon5:c.408-2A>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.315-2A>G;ENST00000586445:exon5:c.432-2A>G;ENST00000317615:exon5:c.408-2A>G;ENST00000590217:exon5:c.408-2A>G)	.	.	0.999991478261395	0.938
18	12720507	A	T	18	12720508	y	y	splicing	PSMG2(NM_147163:exon5:c.315-2A>T;NM_020232:exon5:c.408-2A>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.315-2A>T;ENST00000586445:exon5:c.432-2A>T;ENST00000317615:exon5:c.408-2A>T;ENST00000590217:exon5:c.408-2A>T)	.	.	0.999991478261395	0.938
18	12720508	G	A	18	12720509	y	y	splicing	PSMG2(NM_147163:exon5:c.315-1G>A;NM_020232:exon5:c.408-1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.315-1G>A;ENST00000586445:exon5:c.432-1G>A;ENST00000317615:exon5:c.408-1G>A;ENST00000590217:exon5:c.408-1G>A)	.	.	0.999989125585301	0.932
18	12720508	G	C	18	12720509	y	y	splicing	PSMG2(NM_147163:exon5:c.315-1G>C;NM_020232:exon5:c.408-1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.315-1G>C;ENST00000586445:exon5:c.432-1G>C;ENST00000317615:exon5:c.408-1G>C;ENST00000590217:exon5:c.408-1G>C)	.	.	0.999989125585301	0.93
18	12720508	G	T	18	12720509	y	y	splicing	PSMG2(NM_147163:exon5:c.315-1G>T;NM_020232:exon5:c.408-1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.315-1G>T;ENST00000586445:exon5:c.432-1G>T;ENST00000317615:exon5:c.408-1G>T;ENST00000590217:exon5:c.408-1G>T)	.	.	0.999989125585301	0.932
18	12720509	T	A	18	12720510	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.T315A:p.S105R;PSMG2:NM_020232:exon5:c.T408A:p.S136R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.T315A:p.S105R;ENSG00000128789:ENST00000317615:exon5:c.T408A:p.S136R;ENSG00000128789:ENST00000590217:exon5:c.T408A:p.S136R;ENSG00000128789:ENST00000586445:exon5:c.T432A:p.S144R;	3.86237613199918E-4	0.04
18	12720509	T	C	18	12720510	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon5:c.T315C:p.S105S;PSMG2:NM_020232:exon5:c.T408C:p.S136S;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.T315C:p.S105S;ENSG00000128789:ENST00000317615:exon5:c.T408C:p.S136S;ENSG00000128789:ENST00000590217:exon5:c.T408C:p.S136S;ENSG00000128789:ENST00000586445:exon5:c.T432C:p.S144S;	2.41150402350491E-4	0.138
18	12720509	T	G	18	12720510	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.T315G:p.S105R;PSMG2:NM_020232:exon5:c.T408G:p.S136R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.T315G:p.S105R;ENSG00000128789:ENST00000317615:exon5:c.T408G:p.S136R;ENSG00000128789:ENST00000590217:exon5:c.T408G:p.S136R;ENSG00000128789:ENST00000586445:exon5:c.T432G:p.S144R;	0.00114859812798033	0.134
18	12720510	A	C	18	12720511	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.A316C:p.T106P;PSMG2:NM_020232:exon5:c.A409C:p.T137P;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A316C:p.T106P;ENSG00000128789:ENST00000317615:exon5:c.A409C:p.T137P;ENSG00000128789:ENST00000590217:exon5:c.A409C:p.T137P;ENSG00000128789:ENST00000586445:exon5:c.A433C:p.T145P;	0.85276795879051	0.626
18	12720510	A	G	18	12720511	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.A316G:p.T106A;PSMG2:NM_020232:exon5:c.A409G:p.T137A;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A316G:p.T106A;ENSG00000128789:ENST00000317615:exon5:c.A409G:p.T137A;ENSG00000128789:ENST00000590217:exon5:c.A409G:p.T137A;ENSG00000128789:ENST00000586445:exon5:c.A433G:p.T145A;	0.779699554453785	0.582
18	12720510	A	T	18	12720511	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.A316T:p.T106S;PSMG2:NM_020232:exon5:c.A409T:p.T137S;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A316T:p.T106S;ENSG00000128789:ENST00000317615:exon5:c.A409T:p.T137S;ENSG00000128789:ENST00000590217:exon5:c.A409T:p.T137S;ENSG00000128789:ENST00000586445:exon5:c.A433T:p.T145S;	0.0330164056014606	0.254
18	12720680	A	C	18	12720681	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.A486C:p.E162D;PSMG2:NM_020232:exon5:c.A579C:p.E193D;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A486C:p.E162D;ENSG00000128789:ENST00000317615:exon5:c.A579C:p.E193D;ENSG00000128789:ENST00000590217:exon5:c.A579C:p.E193D;ENSG00000128789:ENST00000586445:exon5:c.A603C:p.E201D;	7.31413339050176E-4	0.002
18	12720680	A	G	18	12720681	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon5:c.A486G:p.E162E;PSMG2:NM_020232:exon5:c.A579G:p.E193E;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A486G:p.E162E;ENSG00000128789:ENST00000317615:exon5:c.A579G:p.E193E;ENSG00000128789:ENST00000590217:exon5:c.A579G:p.E193E;ENSG00000128789:ENST00000586445:exon5:c.A603G:p.E201E;	7.74880355908811E-4	0.004
18	12720680	A	T	18	12720681	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.A486T:p.E162D;PSMG2:NM_020232:exon5:c.A579T:p.E193D;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A486T:p.E162D;ENSG00000128789:ENST00000317615:exon5:c.A579T:p.E193D;ENSG00000128789:ENST00000590217:exon5:c.A579T:p.E193D;ENSG00000128789:ENST00000586445:exon5:c.A603T:p.E201D;	0.0048812847820943	0.148
18	12720681	A	C	18	12720682	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.A487C:p.S163R;PSMG2:NM_020232:exon5:c.A580C:p.S194R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A487C:p.S163R;ENSG00000128789:ENST00000317615:exon5:c.A580C:p.S194R;ENSG00000128789:ENST00000590217:exon5:c.A580C:p.S194R;ENSG00000128789:ENST00000586445:exon5:c.A604C:p.S202R;	0.837064878314309	0.648
18	12720681	A	G	18	12720682	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.A487G:p.S163G;PSMG2:NM_020232:exon5:c.A580G:p.S194G;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A487G:p.S163G;ENSG00000128789:ENST00000317615:exon5:c.A580G:p.S194G;ENSG00000128789:ENST00000590217:exon5:c.A580G:p.S194G;ENSG00000128789:ENST00000586445:exon5:c.A604G:p.S202G;	0.161083127184157	0.304
18	12720681	A	T	18	12720682	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.A487T:p.S163C;PSMG2:NM_020232:exon5:c.A580T:p.S194C;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.A487T:p.S163C;ENSG00000128789:ENST00000317615:exon5:c.A580T:p.S194C;ENSG00000128789:ENST00000590217:exon5:c.A580T:p.S194C;ENSG00000128789:ENST00000586445:exon5:c.A604T:p.S202C;	0.115450429282876	0.496
18	12720682	G	A	18	12720683	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.G488A:p.S163N;PSMG2:NM_020232:exon5:c.G581A:p.S194N;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.G488A:p.S163N;ENSG00000128789:ENST00000317615:exon5:c.G581A:p.S194N;ENSG00000128789:ENST00000590217:exon5:c.G581A:p.S194N;ENSG00000128789:ENST00000586445:exon5:c.G605A:p.S202N;	0.996722861155784	0.78
18	12720682	G	C	18	12720683	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.G488C:p.S163T;PSMG2:NM_020232:exon5:c.G581C:p.S194T;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.G488C:p.S163T;ENSG00000128789:ENST00000317615:exon5:c.G581C:p.S194T;ENSG00000128789:ENST00000590217:exon5:c.G581C:p.S194T;ENSG00000128789:ENST00000586445:exon5:c.G605C:p.S202T;	0.999698286697692	0.958
18	12720682	G	T	18	12720683	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon5:c.G488T:p.S163I;PSMG2:NM_020232:exon5:c.G581T:p.S194I;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon5:c.G488T:p.S163I;ENSG00000128789:ENST00000317615:exon5:c.G581T:p.S194I;ENSG00000128789:ENST00000590217:exon5:c.G581T:p.S194I;ENSG00000128789:ENST00000586445:exon5:c.G605T:p.S202I;	0.999703096372008	0.966
18	12720683	G	A	18	12720684	y	y	splicing	PSMG2(NM_147163:exon5:c.488+1G>A;NM_020232:exon5:c.581+1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.488+1G>A;ENST00000586445:exon5:c.605+1G>A;ENST00000317615:exon5:c.581+1G>A;ENST00000590217:exon5:c.581+1G>A)	.	.	0.999988247793601	0.936
18	12720683	G	C	18	12720684	y	y	splicing	PSMG2(NM_147163:exon5:c.488+1G>C;NM_020232:exon5:c.581+1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.488+1G>C;ENST00000586445:exon5:c.605+1G>C;ENST00000317615:exon5:c.581+1G>C;ENST00000590217:exon5:c.581+1G>C)	.	.	0.999988247793601	0.936
18	12720683	G	T	18	12720684	y	y	splicing	PSMG2(NM_147163:exon5:c.488+1G>T;NM_020232:exon5:c.581+1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.488+1G>T;ENST00000586445:exon5:c.605+1G>T;ENST00000317615:exon5:c.581+1G>T;ENST00000590217:exon5:c.581+1G>T)	.	.	0.999988247793601	0.936
18	12720684	T	A	18	12720685	y	y	splicing	PSMG2(NM_147163:exon5:c.488+2T>A;NM_020232:exon5:c.581+2T>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.488+2T>A;ENST00000586445:exon5:c.605+2T>A;ENST00000317615:exon5:c.581+2T>A;ENST00000590217:exon5:c.581+2T>A)	.	.	0.999993519952936	0.93
18	12720684	T	C	18	12720685	y	y	splicing	PSMG2(NM_147163:exon5:c.488+2T>C;NM_020232:exon5:c.581+2T>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.488+2T>C;ENST00000586445:exon5:c.605+2T>C;ENST00000317615:exon5:c.581+2T>C;ENST00000590217:exon5:c.581+2T>C)	.	.	0.999958563240378	0.85
18	12720684	T	G	18	12720685	y	y	splicing	PSMG2(NM_147163:exon5:c.488+2T>G;NM_020232:exon5:c.581+2T>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon5:c.488+2T>G;ENST00000586445:exon5:c.605+2T>G;ENST00000317615:exon5:c.581+2T>G;ENST00000590217:exon5:c.581+2T>G)	.	.	0.999993519952936	0.93
18	12720685	G	A	18	12720686	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.48577404983568E-5	0.0
18	12720685	G	C	18	12720686	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0764664069673514	0.286
18	12720685	G	T	18	12720686	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0129410001790924	0.196
18	12720686	A	C	18	12720687	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.204957364047245	0.276
18	12720686	A	G	18	12720687	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.846380979393388	0.518
18	12720686	A	T	18	12720687	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.837802512283217	0.374
18	12720687	G	A	18	12720688	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.996915977097466	0.924
18	12720687	G	C	18	12720688	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.894527052755631	0.808
18	12720687	G	T	18	12720688	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.992646087951497	0.886
18	12720688	T	A	18	12720689	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.148746920141804	0.372
18	12720688	T	C	18	12720689	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0534103117484127	0.19
18	12720688	T	G	18	12720689	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00866017634278559	0.218
18	12720689	T	A	18	12720690	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.83548795583233E-4	0.0
18	12720689	T	C	18	12720690	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.83548795583233E-4	0.0
18	12720689	T	G	18	12720690	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.83548795583233E-4	0.002
18	12720690	T	A	18	12720691	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	6.95173629877962E-4	0.032
18	12720690	T	C	18	12720691	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.75479100004661E-4	0.068
18	12720690	T	G	18	12720691	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.89903870182886E-4	0.05
18	12724486	T	A	18	12724487	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	9.23210481900579E-4	0.124
18	12724486	T	C	18	12724487	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.55233144073503E-5	0.006
18	12724486	T	G	18	12724487	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.94458761026066E-4	0.112
18	12724487	A	C	18	12724488	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.07195534882835E-5	0.156
18	12724487	A	G	18	12724488	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.28466638968064E-5	0.134
18	12724487	A	T	18	12724488	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.74543660674002E-5	0.134
18	12724488	T	A	18	12724489	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.004991547619698	0.19
18	12724488	T	C	18	12724489	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00147551950061795	0.1
18	12724488	T	G	18	12724489	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999911251416458	0.97
18	12724489	T	A	18	12724490	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.775266953322117	0.486
18	12724489	T	C	18	12724490	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.269707700012269	0.468
18	12724489	T	G	18	12724490	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.817288226390006	0.46
18	12724490	T	A	18	12724491	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0163677769616949	0.22
18	12724490	T	C	18	12724491	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.08820121933366E-4	0.004
18	12724490	T	G	18	12724491	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0203367117471649	0.136
18	12724491	C	A	18	12724492	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00296382360330107	0.04
18	12724491	C	G	18	12724492	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00679011051302044	0.068
18	12724491	C	T	18	12724492	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	9.81638862014615E-4	0.012
18	12724492	T	A	18	12724493	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.015695326164274	0.148
18	12724492	T	C	18	12724493	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	6.25047941783414E-5	0.01
18	12724492	T	G	18	12724493	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0084896869213237	0.144
18	12724493	T	A	18	12724494	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.9995310036401	0.944
18	12724493	T	C	18	12724494	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	8.99972034034254E-4	0.014
18	12724493	T	G	18	12724494	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00543868629412347	0.184
18	12724494	G	A	18	12724495	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.19377717809031E-4	0.03
18	12724494	G	C	18	12724495	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.2836824988597E-4	0.006
18	12724494	G	T	18	12724495	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.55695312395215E-4	0.01
18	12724495	T	A	18	12724496	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00527498714522292	0.178
18	12724495	T	C	18	12724496	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.46897703381312E-5	0.016
18	12724495	T	G	18	12724496	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.991400620927624	0.682
18	12724496	A	C	18	12724497	y	y	splicing	PSMG2(NM_147163:exon6:c.489-2A>C;NM_020232:exon6:c.582-2A>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon6:c.489-2A>C;ENST00000586445:exon6:c.606-2A>C;ENST00000317615:exon6:c.582-2A>C;ENST00000590217:exon6:c.582-2A>C;ENST00000586587:exon4:c.289-2A>C)	.	.	0.999988247793601	0.93
18	12724496	A	G	18	12724497	y	y	splicing	PSMG2(NM_147163:exon6:c.489-2A>G;NM_020232:exon6:c.582-2A>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon6:c.489-2A>G;ENST00000586445:exon6:c.606-2A>G;ENST00000317615:exon6:c.582-2A>G;ENST00000590217:exon6:c.582-2A>G;ENST00000586587:exon4:c.289-2A>G)	.	.	0.999988247793601	0.93
18	12724496	A	T	18	12724497	y	y	splicing	PSMG2(NM_147163:exon6:c.489-2A>T;NM_020232:exon6:c.582-2A>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon6:c.489-2A>T;ENST00000586445:exon6:c.606-2A>T;ENST00000317615:exon6:c.582-2A>T;ENST00000590217:exon6:c.582-2A>T;ENST00000586587:exon4:c.289-2A>T)	.	.	0.999988247793601	0.93
18	12724497	G	A	18	12724498	y	y	splicing	PSMG2(NM_147163:exon6:c.489-1G>A;NM_020232:exon6:c.582-1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon6:c.489-1G>A;ENST00000586445:exon6:c.606-1G>A;ENST00000317615:exon6:c.582-1G>A;ENST00000590217:exon6:c.582-1G>A;ENST00000586587:exon4:c.289-1G>A)	.	.	0.999990361384395	0.938
18	12724497	G	C	18	12724498	y	y	splicing	PSMG2(NM_147163:exon6:c.489-1G>C;NM_020232:exon6:c.582-1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon6:c.489-1G>C;ENST00000586445:exon6:c.606-1G>C;ENST00000317615:exon6:c.582-1G>C;ENST00000590217:exon6:c.582-1G>C;ENST00000586587:exon4:c.289-1G>C)	.	.	0.999990361384395	0.938
18	12724497	G	T	18	12724498	y	y	splicing	PSMG2(NM_147163:exon6:c.489-1G>T;NM_020232:exon6:c.582-1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon6:c.489-1G>T;ENST00000586445:exon6:c.606-1G>T;ENST00000317615:exon6:c.582-1G>T;ENST00000590217:exon6:c.582-1G>T;ENST00000586587:exon4:c.289-1G>T)	.	.	0.999990361384395	0.938
18	12724498	C	A	18	12724499	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.C489A:p.S163R;PSMG2:NM_020232:exon6:c.C582A:p.S194R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.C489A:p.S163R;ENSG00000128789:ENST00000317615:exon6:c.C582A:p.S194R;ENSG00000128789:ENST00000586587:exon4:c.C289A:p.L97M;ENSG00000128789:ENST00000590217:exon6:c.C582A:p.S194R;ENSG00000128789:ENST00000586445:exon6:c.C606A:p.S202R;	0.495005009445336	0.642
18	12724498	C	G	18	12724499	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.C489G:p.S163R;PSMG2:NM_020232:exon6:c.C582G:p.S194R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.C489G:p.S163R;ENSG00000128789:ENST00000317615:exon6:c.C582G:p.S194R;ENSG00000128789:ENST00000586587:exon4:c.C289G:p.L97V;ENSG00000128789:ENST00000590217:exon6:c.C582G:p.S194R;ENSG00000128789:ENST00000586445:exon6:c.C606G:p.S202R;	0.526092268770961	0.59
18	12724498	C	T	18	12724499	y	y	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon6:c.C489T:p.S163S;PSMG2:NM_020232:exon6:c.C582T:p.S194S;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.C489T:p.S163S;ENSG00000128789:ENST00000317615:exon6:c.C582T:p.S194S;ENSG00000128789:ENST00000586587:exon4:c.C289T:p.L97L;ENSG00000128789:ENST00000590217:exon6:c.C582T:p.S194S;ENSG00000128789:ENST00000586445:exon6:c.C606T:p.S202S;	0.0138810746263088	0.342
18	12724499	T	A	18	12724500	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.T490A:p.C164S;PSMG2:NM_020232:exon6:c.T583A:p.C195S;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T490A:p.C164S;ENSG00000128789:ENST00000317615:exon6:c.T583A:p.C195S;ENSG00000128789:ENST00000586587:exon4:c.T290A:p.L97Q;ENSG00000128789:ENST00000590217:exon6:c.T583A:p.C195S;ENSG00000128789:ENST00000586445:exon6:c.T607A:p.C203S;	0.00711835092136809	0.176
18	12724499	T	C	18	12724500	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.T490C:p.C164R;PSMG2:NM_020232:exon6:c.T583C:p.C195R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T490C:p.C164R;ENSG00000128789:ENST00000317615:exon6:c.T583C:p.C195R;ENSG00000128789:ENST00000586587:exon4:c.T290C:p.L97P;ENSG00000128789:ENST00000590217:exon6:c.T583C:p.C195R;ENSG00000128789:ENST00000586445:exon6:c.T607C:p.C203R;	0.00886280148773334	0.06
18	12724499	T	G	18	12724500	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.T490G:p.C164G;PSMG2:NM_020232:exon6:c.T583G:p.C195G;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T490G:p.C164G;ENSG00000128789:ENST00000317615:exon6:c.T583G:p.C195G;ENSG00000128789:ENST00000586587:exon4:c.T290G:p.L97R;ENSG00000128789:ENST00000590217:exon6:c.T583G:p.C195G;ENSG00000128789:ENST00000586445:exon6:c.T607G:p.C203G;	0.00157752617242568	0.108
18	12724616	C	A	18	12724617	y	n	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.C607A:p.L203I;PSMG2:NM_020232:exon6:c.C700A:p.L234I;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.C607A:p.L203I;ENSG00000128789:ENST00000317615:exon6:c.C700A:p.L234I;ENSG00000128789:ENST00000590217:exon6:c.C700A:p.L234I;	6.16719157903578E-5	0.006
18	12724616	C	G	18	12724617	y	n	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.C607G:p.L203V;PSMG2:NM_020232:exon6:c.C700G:p.L234V;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.C607G:p.L203V;ENSG00000128789:ENST00000317615:exon6:c.C700G:p.L234V;ENSG00000128789:ENST00000590217:exon6:c.C700G:p.L234V;	2.05370039034137E-5	0.006
18	12724616	C	T	18	12724617	y	n	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.C607T:p.L203F;PSMG2:NM_020232:exon6:c.C700T:p.L234F;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.C607T:p.L203F;ENSG00000128789:ENST00000317615:exon6:c.C700T:p.L234F;ENSG00000128789:ENST00000590217:exon6:c.C700T:p.L234F;	6.6340489437682E-4	0.068
18	12724617	T	A	18	12724618	y	n	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.T608A:p.L203H;PSMG2:NM_020232:exon6:c.T701A:p.L234H;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T608A:p.L203H;ENSG00000128789:ENST00000317615:exon6:c.T701A:p.L234H;ENSG00000128789:ENST00000590217:exon6:c.T701A:p.L234H;	5.16148267606537E-5	0.074
18	12724617	T	C	18	12724618	y	n	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.T608C:p.L203P;PSMG2:NM_020232:exon6:c.T701C:p.L234P;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T608C:p.L203P;ENSG00000128789:ENST00000317615:exon6:c.T701C:p.L234P;ENSG00000128789:ENST00000590217:exon6:c.T701C:p.L234P;	1.72164166137912E-5	0.016
18	12724617	T	G	18	12724618	y	n	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon6:c.T608G:p.L203R;PSMG2:NM_020232:exon6:c.T701G:p.L234R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T608G:p.L203R;ENSG00000128789:ENST00000317615:exon6:c.T701G:p.L234R;ENSG00000128789:ENST00000590217:exon6:c.T701G:p.L234R;	2.01148029151592E-5	0.006
18	12724618	T	A	18	12724619	y	n	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon6:c.T609A:p.L203L;PSMG2:NM_020232:exon6:c.T702A:p.L234L;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T609A:p.L203L;ENSG00000128789:ENST00000317615:exon6:c.T702A:p.L234L;ENSG00000128789:ENST00000590217:exon6:c.T702A:p.L234L;	1.65702954423855E-5	0.014
18	12724618	T	C	18	12724619	y	n	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon6:c.T609C:p.L203L;PSMG2:NM_020232:exon6:c.T702C:p.L234L;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T609C:p.L203L;ENSG00000128789:ENST00000317615:exon6:c.T702C:p.L234L;ENSG00000128789:ENST00000590217:exon6:c.T702C:p.L234L;	3.16057162598205E-5	0.056
18	12724618	T	G	18	12724619	y	n	exonic	PSMG2	synonymous SNV	PSMG2:NM_147163:exon6:c.T609G:p.L203L;PSMG2:NM_020232:exon6:c.T702G:p.L234L;	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000585331:exon6:c.T609G:p.L203L;ENSG00000128789:ENST00000317615:exon6:c.T702G:p.L234L;ENSG00000128789:ENST00000590217:exon6:c.T702G:p.L234L;	5.42518933546738E-5	0.166
18	12724619	G	A	18	12724620	y	n	splicing	PSMG2(NM_147163:exon6:c.609+1G>A;NM_020232:exon6:c.702+1G>A)	.	.	exonic;splicing	ENSG00000128789;ENSG00000128789(ENST00000585331:exon6:c.609+1G>A;ENST00000317615:exon6:c.702+1G>A;ENST00000586587:exon4:c.409+1G>A)	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.G703A:p.V235I;	0.999933757597683	0.94
18	12724619	G	C	18	12724620	y	n	splicing	PSMG2(NM_147163:exon6:c.609+1G>C;NM_020232:exon6:c.702+1G>C)	.	.	exonic;splicing	ENSG00000128789;ENSG00000128789(ENST00000585331:exon6:c.609+1G>C;ENST00000317615:exon6:c.702+1G>C;ENST00000586587:exon4:c.409+1G>C)	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.G703C:p.V235L;	0.999956786857988	0.938
18	12724619	G	T	18	12724620	y	n	splicing	PSMG2(NM_147163:exon6:c.609+1G>T;NM_020232:exon6:c.702+1G>T)	.	.	exonic;splicing	ENSG00000128789;ENSG00000128789(ENST00000585331:exon6:c.609+1G>T;ENST00000317615:exon6:c.702+1G>T;ENST00000586587:exon4:c.409+1G>T)	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.G703T:p.V235L;	0.999956786857988	0.938
18	12724620	T	A	18	12724621	y	n	splicing	PSMG2(NM_147163:exon6:c.609+2T>A;NM_020232:exon6:c.702+2T>A)	.	.	exonic;splicing	ENSG00000128789;ENSG00000128789(ENST00000585331:exon6:c.609+2T>A;ENST00000317615:exon6:c.702+2T>A;ENST00000586587:exon4:c.409+2T>A)	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T704A:p.V235E;	0.999964896440643	0.93
18	12724620	T	C	18	12724621	y	n	splicing	PSMG2(NM_147163:exon6:c.609+2T>C;NM_020232:exon6:c.702+2T>C)	.	.	exonic;splicing	ENSG00000128789;ENSG00000128789(ENST00000585331:exon6:c.609+2T>C;ENST00000317615:exon6:c.702+2T>C;ENST00000586587:exon4:c.409+2T>C)	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T704C:p.V235A;	0.967788928859094	0.56
18	12724620	T	G	18	12724621	y	n	splicing	PSMG2(NM_147163:exon6:c.609+2T>G;NM_020232:exon6:c.702+2T>G)	.	.	exonic;splicing	ENSG00000128789;ENSG00000128789(ENST00000585331:exon6:c.609+2T>G;ENST00000317615:exon6:c.702+2T>G;ENST00000586587:exon4:c.409+2T>G)	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T704G:p.V235G;	0.999951957019574	0.892
18	12724621	A	C	18	12724622	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.A705C:p.V235V;	0.999306337793628	0.872
18	12724621	A	G	18	12724622	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.A705G:p.V235V;	0.00599163517964612	0.136
18	12724621	A	T	18	12724622	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.A705T:p.V235V;	0.999388090946078	0.862
18	12724622	A	C	18	12724623	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.A706C:p.S236R;	0.936882332926848	0.788
18	12724622	A	G	18	12724623	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.A706G:p.S236G;	0.968421270309796	0.844
18	12724622	A	T	18	12724623	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.A706T:p.S236C;	0.935816786427166	0.822
18	12724623	G	A	18	12724624	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.G707A:p.S236N;	0.999978300100873	0.998
18	12724623	G	C	18	12724624	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.G707C:p.S236T;	0.999994438363474	0.984
18	12724623	G	T	18	12724624	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.G707T:p.S236I;	0.999984166337008	0.998
18	12724624	T	A	18	12724625	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T708A:p.S236R;	0.9756131111538	0.626
18	12724624	T	C	18	12724625	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	synonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T708C:p.S236S;	0.87032678553082	0.67
18	12724624	T	G	18	12724625	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T708G:p.S236R;	0.889713792547679	0.63
18	12724625	T	A	18	12724626	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T709A:p.S237T;	6.77497039365624E-5	0.016
18	12724625	T	C	18	12724626	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T709C:p.S237P;	2.76793315026457E-5	0.022
18	12724625	T	G	18	12724626	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.T709G:p.S237A;	5.34169129164581E-5	0.032
18	12724626	C	A	18	12724627	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.C710A:p.S237Y;	1.46376782507983E-4	0.002
18	12724626	C	G	18	12724627	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.C710G:p.S237C;	4.96735816285046E-5	0.014
18	12724626	C	T	18	12724627	y	n	intronic	PSMG2	.	.	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000590217:exon6:c.C710T:p.S237F;	4.49302493830456E-5	0.0
18	12725426	C	A	18	12725427	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00257864245021066	0.112
18	12725426	C	G	18	12725427	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.96515835799716E-4	0.116
18	12725426	C	T	18	12725427	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	8.43829555812854E-5	0.0
18	12725427	T	A	18	12725428	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.38478632872774	0.618
18	12725427	T	C	18	12725428	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00950697369933576	0.152
18	12725427	T	G	18	12725428	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.856328163759874	0.642
18	12725428	T	A	18	12725429	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.110129985828097	0.674
18	12725428	T	C	18	12725429	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00216128856489128	0.13
18	12725428	T	G	18	12725429	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.948327052332088	0.774
18	12725429	C	A	18	12725430	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00126320477858446	0.02
18	12725429	C	G	18	12725430	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0024989845623491	0.05
18	12725429	C	T	18	12725430	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	2.636656470868E-5	0.008
18	12725430	A	C	18	12725431	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	6.23588002625471E-5	0.002
18	12725430	A	G	18	12725431	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	4.7033894690649E-5	0.002
18	12725430	A	T	18	12725431	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.29888294738064E-5	0.002
18	12725431	A	C	18	12725432	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.41351406781139E-5	0.004
18	12725431	A	G	18	12725432	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.271768701945008	0.746
18	12725431	A	T	18	12725432	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	1.250243698046E-5	0.0
18	12725432	T	A	18	12725433	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.82948724864403	0.698
18	12725432	T	C	18	12725433	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.00113069832160811	0.1
18	12725432	T	G	18	12725433	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999928920233324	0.938
18	12725433	T	A	18	12725434	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.92299641392236	0.692
18	12725433	T	C	18	12725434	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.0176177753398736	0.168
18	12725433	T	G	18	12725434	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.956277874972825	0.778
18	12725434	A	C	18	12725435	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	5.30684657490526E-5	0.004
18	12725434	A	G	18	12725435	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	3.19782996926055E-4	0.248
18	12725434	A	T	18	12725435	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	9.87806888614813E-5	0.012
18	12725435	C	A	18	12725436	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999645230818331	0.96
18	12725435	C	G	18	12725436	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.999945669591043	0.966
18	12725435	C	T	18	12725436	y	y	intronic	PSMG2	.	.	intronic	ENSG00000128789	.	.	0.995970045608977	0.444
18	12725436	A	C	18	12725437	y	y	splicing	PSMG2(NM_147163:exon7:c.610-2A>C;NM_020232:exon7:c.703-2A>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon7:c.610-2A>C;ENST00000317615:exon7:c.703-2A>C;ENST00000586587:exon5:c.410-2A>C)	.	.	0.999988247793601	0.932
18	12725436	A	G	18	12725437	y	y	splicing	PSMG2(NM_147163:exon7:c.610-2A>G;NM_020232:exon7:c.703-2A>G)	.	.	splicing	ENSG00000128789(ENST00000585331:exon7:c.610-2A>G;ENST00000317615:exon7:c.703-2A>G;ENST00000586587:exon5:c.410-2A>G)	.	.	0.999988247793601	0.932
18	12725436	A	T	18	12725437	y	y	splicing	PSMG2(NM_147163:exon7:c.610-2A>T;NM_020232:exon7:c.703-2A>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon7:c.610-2A>T;ENST00000317615:exon7:c.703-2A>T;ENST00000586587:exon5:c.410-2A>T)	.	.	0.999988247793601	0.932
18	12725437	G	A	18	12725438	y	y	splicing	PSMG2(NM_147163:exon7:c.610-1G>A;NM_020232:exon7:c.703-1G>A)	.	.	splicing	ENSG00000128789(ENST00000585331:exon7:c.610-1G>A;ENST00000317615:exon7:c.703-1G>A;ENST00000586587:exon5:c.410-1G>A)	.	.	0.999989072007339	0.934
18	12725437	G	C	18	12725438	y	y	splicing	PSMG2(NM_147163:exon7:c.610-1G>C;NM_020232:exon7:c.703-1G>C)	.	.	splicing	ENSG00000128789(ENST00000585331:exon7:c.610-1G>C;ENST00000317615:exon7:c.703-1G>C;ENST00000586587:exon5:c.410-1G>C)	.	.	0.999989072007339	0.934
18	12725437	G	T	18	12725438	y	y	splicing	PSMG2(NM_147163:exon7:c.610-1G>T;NM_020232:exon7:c.703-1G>T)	.	.	splicing	ENSG00000128789(ENST00000585331:exon7:c.610-1G>T;ENST00000317615:exon7:c.703-1G>T;ENST00000586587:exon5:c.410-1G>T)	.	.	0.999989072007339	0.934
18	12725438	A	C	18	12725439	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon7:c.A610C:p.S204R;PSMG2:NM_020232:exon7:c.A703C:p.S235R;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon7:c.A610C:p.S204R;ENSG00000128789:ENST00000317615:exon7:c.A703C:p.S235R;	4.28905174941182E-4	0.142
18	12725438	A	G	18	12725439	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon7:c.A610G:p.S204G;PSMG2:NM_020232:exon7:c.A703G:p.S235G;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon7:c.A610G:p.S204G;ENSG00000128789:ENST00000317615:exon7:c.A703G:p.S235G;	4.14818988266566E-5	0.002
18	12725438	A	T	18	12725439	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon7:c.A610T:p.S204C;PSMG2:NM_020232:exon7:c.A703T:p.S235C;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon7:c.A610T:p.S204C;ENSG00000128789:ENST00000317615:exon7:c.A703T:p.S235C;	0.00263455912336257	0.278
18	12725439	G	A	18	12725440	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon7:c.G611A:p.S204N;PSMG2:NM_020232:exon7:c.G704A:p.S235N;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon7:c.G611A:p.S204N;ENSG00000128789:ENST00000317615:exon7:c.G704A:p.S235N;	2.82617893088928E-4	0.02
18	12725439	G	C	18	12725440	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon7:c.G611C:p.S204T;PSMG2:NM_020232:exon7:c.G704C:p.S235T;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon7:c.G611C:p.S204T;ENSG00000128789:ENST00000317615:exon7:c.G704C:p.S235T;	1.5298104147834E-4	0.026
18	12725439	G	T	18	12725440	y	y	exonic	PSMG2	nonsynonymous SNV	PSMG2:NM_147163:exon7:c.G611T:p.S204I;PSMG2:NM_020232:exon7:c.G704T:p.S235I;	exonic	ENSG00000128789	nonsynonymous SNV	ENSG00000128789:ENST00000585331:exon7:c.G611T:p.S204I;ENSG00000128789:ENST00000317615:exon7:c.G704T:p.S235I;	3.73657310890458E-4	0.002
18	12785842	G	A	18	12785843	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon9:c.C1042T:p.P348S;PTPN2:NM_001207013:exon11:c.C1213T:p.P405S;PTPN2:NM_080422:exon10:c.C1144T:p.P382S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon11:c.C1213T:p.P405S;ENSG00000175354:ENST00000327283:exon10:c.C1144T:p.P382S;ENSG00000175354:ENST00000353319:exon9:c.C1042T:p.P348S;	0.00206737104554418	0.056
18	12785842	G	C	18	12785843	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon9:c.C1042G:p.P348A;PTPN2:NM_001207013:exon11:c.C1213G:p.P405A;PTPN2:NM_080422:exon10:c.C1144G:p.P382A;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon11:c.C1213G:p.P405A;ENSG00000175354:ENST00000327283:exon10:c.C1144G:p.P382A;ENSG00000175354:ENST00000353319:exon9:c.C1042G:p.P348A;	0.00206737104554418	0.056
18	12785842	G	T	18	12785843	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon9:c.C1042A:p.P348T;PTPN2:NM_001207013:exon11:c.C1213A:p.P405T;PTPN2:NM_080422:exon10:c.C1144A:p.P382T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon11:c.C1213A:p.P405T;ENSG00000175354:ENST00000327283:exon10:c.C1144A:p.P382T;ENSG00000175354:ENST00000353319:exon9:c.C1042A:p.P348T;	0.00294404891201381	0.046
18	12785843	C	A	18	12785844	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon9:c.G1041T:p.R347S;PTPN2:NM_001207013:exon11:c.G1212T:p.R404S;PTPN2:NM_080422:exon10:c.G1143T:p.R381S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon11:c.G1212T:p.R404S;ENSG00000175354:ENST00000327283:exon10:c.G1143T:p.R381S;ENSG00000175354:ENST00000353319:exon9:c.G1041T:p.R347S;	0.00696388467382607	0.05
18	12785843	C	G	18	12785844	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon9:c.G1041C:p.R347S;PTPN2:NM_001207013:exon11:c.G1212C:p.R404S;PTPN2:NM_080422:exon10:c.G1143C:p.R381S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon11:c.G1212C:p.R404S;ENSG00000175354:ENST00000327283:exon10:c.G1143C:p.R381S;ENSG00000175354:ENST00000353319:exon9:c.G1041C:p.R347S;	0.00696388467382607	0.054
18	12785843	C	T	18	12785844	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon9:c.G1041A:p.R347R;PTPN2:NM_001207013:exon11:c.G1212A:p.R404R;PTPN2:NM_080422:exon10:c.G1143A:p.R381R;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon11:c.G1212A:p.R404R;ENSG00000175354:ENST00000327283:exon10:c.G1143A:p.R381R;ENSG00000175354:ENST00000353319:exon9:c.G1041A:p.R347R;	0.0203663321563806	0.068
18	12785844	C	A	18	12785845	y	y	splicing	PTPN2(NM_080422:exon11:c.1143-1G>T;NM_080423:exon10:c.1041-1G>T;NM_001207013:exon12:c.1212-1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon11:c.1143-1G>T;ENST00000591115:exon12:c.1212-1G>T;ENST00000591901:exon5:c.380-1G>T;ENST00000353319:exon10:c.1041-1G>T;ENST00000585666:exon6:c.474-1G>T;ENST00000587703:exon6:c.418-1G>T)	.	.	0.990483331831657	0.884
18	12785844	C	G	18	12785845	y	y	splicing	PTPN2(NM_080422:exon11:c.1143-1G>C;NM_080423:exon10:c.1041-1G>C;NM_001207013:exon12:c.1212-1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon11:c.1143-1G>C;ENST00000591115:exon12:c.1212-1G>C;ENST00000591901:exon5:c.380-1G>C;ENST00000353319:exon10:c.1041-1G>C;ENST00000585666:exon6:c.474-1G>C;ENST00000587703:exon6:c.418-1G>C)	.	.	0.992098554889133	0.876
18	12785844	C	T	18	12785845	y	y	splicing	PTPN2(NM_080422:exon11:c.1143-1G>A;NM_080423:exon10:c.1041-1G>A;NM_001207013:exon12:c.1212-1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon11:c.1143-1G>A;ENST00000591115:exon12:c.1212-1G>A;ENST00000591901:exon5:c.380-1G>A;ENST00000353319:exon10:c.1041-1G>A;ENST00000585666:exon6:c.474-1G>A;ENST00000587703:exon6:c.418-1G>A)	.	.	0.990483331831657	0.89
18	12785845	T	A	18	12785846	y	y	splicing	PTPN2(NM_080422:exon11:c.1143-2A>T;NM_080423:exon10:c.1041-2A>T;NM_001207013:exon12:c.1212-2A>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon11:c.1143-2A>T;ENST00000591115:exon12:c.1212-2A>T;ENST00000591901:exon5:c.380-2A>T;ENST00000353319:exon10:c.1041-2A>T;ENST00000585666:exon6:c.474-2A>T;ENST00000587703:exon6:c.418-2A>T)	.	.	0.847852932600146	0.794
18	12785845	T	C	18	12785846	y	y	splicing	PTPN2(NM_080422:exon11:c.1143-2A>G;NM_080423:exon10:c.1041-2A>G;NM_001207013:exon12:c.1212-2A>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon11:c.1143-2A>G;ENST00000591115:exon12:c.1212-2A>G;ENST00000591901:exon5:c.380-2A>G;ENST00000353319:exon10:c.1041-2A>G;ENST00000585666:exon6:c.474-2A>G;ENST00000587703:exon6:c.418-2A>G)	.	.	0.803133416089577	0.746
18	12785845	T	G	18	12785846	y	y	splicing	PTPN2(NM_080422:exon11:c.1143-2A>C;NM_080423:exon10:c.1041-2A>C;NM_001207013:exon12:c.1212-2A>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon11:c.1143-2A>C;ENST00000591115:exon12:c.1212-2A>C;ENST00000591901:exon5:c.380-2A>C;ENST00000353319:exon10:c.1041-2A>C;ENST00000585666:exon6:c.474-2A>C;ENST00000587703:exon6:c.418-2A>C)	.	.	0.803133416089577	0.746
18	12785846	A	C	18	12785847	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0128024590054188	0.028
18	12785846	A	G	18	12785847	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0128024590054188	0.026
18	12785846	A	T	18	12785847	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0173493336427258	0.076
18	12785847	A	C	18	12785848	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00464429886053217	0.042
18	12785847	A	G	18	12785848	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00464429886053217	0.044
18	12785847	A	T	18	12785848	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00689508868792027	0.024
18	12785848	A	C	18	12785849	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0128024590054188	0.026
18	12785848	A	G	18	12785849	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0128024590054188	0.028
18	12785848	A	T	18	12785849	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0173493336427258	0.052
18	12785849	A	C	18	12785850	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0128024590054188	0.028
18	12785849	A	G	18	12785850	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0128024590054188	0.028
18	12785849	A	T	18	12785850	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0173493336427258	0.052
18	12785850	C	A	18	12785851	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00151841170347799	0.014
18	12785850	C	G	18	12785851	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00102657369250914	0.02
18	12785850	C	T	18	12785851	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00151841170347799	0.014
18	12785851	A	C	18	12785852	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00795678801987447	0.024
18	12785851	A	G	18	12785852	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00795678801987447	0.024
18	12785851	A	T	18	12785852	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00829003674465697	0.026
18	12785852	T	A	18	12785853	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.30269939539877E-4	0.02
18	12785852	T	C	18	12785853	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.64041427978551E-4	0.022
18	12785852	T	G	18	12785853	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.64041427978551E-4	0.022
18	12785853	A	C	18	12785854	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0173493336427258	0.078
18	12785853	A	G	18	12785854	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0173493336427258	0.078
18	12785853	A	T	18	12785854	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0207672217962215	0.142
18	12785854	A	C	18	12785855	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00829003674465697	0.026
18	12785854	A	G	18	12785855	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00829003674465697	0.026
18	12785854	A	T	18	12785855	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0128024590054188	0.028
18	12785855	A	C	18	12785856	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00829003674465697	0.026
18	12785855	A	G	18	12785856	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00829003674465697	0.026
18	12785855	A	T	18	12785856	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0128024590054188	0.028
18	12788056	T	A	18	12788057	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.26007143607885E-5	0.006
18	12788056	T	C	18	12788057	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.44571914076258E-5	0.002
18	12788056	T	G	18	12788057	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.44571914076258E-5	0.002
18	12788057	G	A	18	12788058	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.27456659313109E-5	0.0
18	12788057	G	C	18	12788058	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.27456659313109E-5	0.0
18	12788057	G	T	18	12788058	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.27456659313109E-5	0.0
18	12788058	A	C	18	12788059	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.27663100932972E-5	0.0
18	12788058	A	G	18	12788059	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.27663100932972E-5	0.0
18	12788058	A	T	18	12788059	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.39457982047225E-5	0.0
18	12788059	C	A	18	12788060	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.87698428322107E-5	0.002
18	12788059	C	G	18	12788060	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.87698428322107E-5	0.006
18	12788059	C	T	18	12788060	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.87698428322107E-5	0.002
18	12788060	T	A	18	12788061	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.82827935381688E-5	0.002
18	12788060	T	C	18	12788061	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.82827935381688E-5	0.002
18	12788060	T	G	18	12788061	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.82827935381688E-5	0.002
18	12788061	T	A	18	12788062	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.45170072801036E-5	0.024
18	12788061	T	C	18	12788062	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.45170072801036E-5	0.022
18	12788061	T	G	18	12788062	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.45170072801036E-5	0.022
18	12788062	A	C	18	12788063	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.473+2T>G)	.	.	5.08291490468438E-5	0.022
18	12788062	A	G	18	12788063	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.473+2T>C)	.	.	5.08291490468438E-5	0.014
18	12788062	A	T	18	12788063	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.473+2T>A)	.	.	3.80109675654916E-5	0.0
18	12788063	C	A	18	12788064	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.473+1G>T)	.	.	3.80283194928756E-5	0.0
18	12788063	C	G	18	12788064	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.473+1G>C)	.	.	3.80283194928756E-5	0.0
18	12788063	C	T	18	12788064	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.473+1G>A)	.	.	3.80283194928756E-5	0.0
18	12788064	C	A	18	12788065	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.68952365742707E-5	0.002
18	12788064	C	G	18	12788065	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.68952365742707E-5	0.002
18	12788064	C	T	18	12788065	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.68952365742707E-5	0.002
18	12788065	T	A	18	12788066	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	3.80109675654916E-5	0.0
18	12788065	T	C	18	12788066	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	5.08291490468438E-5	0.01
18	12788065	T	G	18	12788066	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	5.08291490468438E-5	0.016
18	12788066	A	C	18	12788067	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	5.24324292161234E-5	0.016
18	12788066	A	G	18	12788067	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	5.24324292161234E-5	0.016
18	12788066	A	T	18	12788067	n	y	intronic	PTPN2	.	.	UTR3	ENSG00000175354	.	.	5.24324292161234E-5	0.016
18	12788148	G	A	18	12788149	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	3.15849948155271E-5	0.004
18	12788148	G	C	18	12788149	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	3.15849948155271E-5	0.002
18	12788148	G	T	18	12788149	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	3.15849948155271E-5	0.004
18	12788149	T	A	18	12788150	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	3.39457982047225E-5	0.0
18	12788149	T	C	18	12788150	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	3.39457982047225E-5	0.0
18	12788149	T	G	18	12788150	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	3.39457982047225E-5	0.0
18	12788150	C	A	18	12788151	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.388-1G>T)	.	.	3.35115461238441E-4	0.0
18	12788150	C	G	18	12788151	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.388-1G>C)	.	.	3.35115461238441E-4	0.0
18	12788150	C	T	18	12788151	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.388-1G>A)	.	.	4.81587919352141E-4	0.0
18	12788151	T	A	18	12788152	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.388-2A>T)	.	.	1.53558845847488E-4	0.002
18	12788151	T	C	18	12788152	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.388-2A>G)	.	.	9.3797186435366E-5	0.0
18	12788151	T	G	18	12788152	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000585666:exon5:c.388-2A>C)	.	.	9.3797186435366E-5	0.0
18	12788152	G	A	18	12788153	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.7357792130175E-4	0.0
18	12788152	G	C	18	12788153	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.02337758398172E-4	0.0
18	12788152	G	T	18	12788153	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.47082574150101E-4	0.0
18	12788153	A	C	18	12788154	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.63781692334092E-5	0.0
18	12788153	A	G	18	12788154	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.00158232925739E-5	0.0
18	12788153	A	T	18	12788154	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.63781692334092E-5	0.0
18	12788154	A	C	18	12788155	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.41954885934049E-4	0.008
18	12788154	A	G	18	12788155	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.41954885934049E-4	0.008
18	12788154	A	T	18	12788155	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.86837902197376E-4	0.008
18	12788155	A	C	18	12788156	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.23420008299459E-4	0.008
18	12788155	A	G	18	12788156	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.41954885934049E-4	0.008
18	12788155	A	T	18	12788156	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.86837902197376E-4	0.008
18	12788156	A	C	18	12788157	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.58079577932931E-4	0.0
18	12788156	A	G	18	12788157	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.58079577932931E-4	0.0
18	12788156	A	T	18	12788157	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.43903814675916E-4	0.0
18	12788157	A	C	18	12788158	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.35512198838435E-4	0.0
18	12788157	A	G	18	12788158	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.35512198838435E-4	0.0
18	12788157	A	T	18	12788158	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.32090495008031E-4	0.0
18	12788158	T	A	18	12788159	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.23420008299459E-4	0.008
18	12788158	T	C	18	12788159	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.66698198458273E-4	0.012
18	12788158	T	G	18	12788159	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.66698198458273E-4	0.02
18	12788159	A	C	18	12788160	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.50615175439753E-4	0.13
18	12788159	A	G	18	12788160	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.50615175439753E-4	0.13
18	12788159	A	T	18	12788160	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.03003862921799E-4	0.118
18	12788160	T	A	18	12788161	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.90029974565317E-4	0.008
18	12788160	T	C	18	12788161	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.39162750056745E-4	0.022
18	12788160	T	G	18	12788161	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.39162750056745E-4	0.008
18	12788161	G	A	18	12788162	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.30819145506541E-4	0.002
18	12788161	G	C	18	12788162	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.91285012458584E-4	0.012
18	12788161	G	T	18	12788162	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.30819145506541E-4	0.004
18	12793473	C	A	18	12793474	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.55705114011452E-5	0.002
18	12793473	C	G	18	12793474	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.55705114011452E-5	0.002
18	12793473	C	T	18	12793474	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.55705114011452E-5	0.002
18	12793474	T	A	18	12793475	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	1.82309039396057E-5	0.024
18	12793474	T	C	18	12793475	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	1.82309039396057E-5	0.024
18	12793474	T	G	18	12793475	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	1.82309039396057E-5	0.024
18	12793475	G	A	18	12793476	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.64191646885158E-5	0.006
18	12793475	G	C	18	12793476	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.64191646885158E-5	0.006
18	12793475	G	T	18	12793476	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.64191646885158E-5	0.006
18	12793476	T	A	18	12793477	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.35963796750669E-5	0.018
18	12793476	T	C	18	12793477	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.35963796750669E-5	0.05
18	12793476	T	G	18	12793477	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.35963796750669E-5	0.05
18	12793477	T	A	18	12793478	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793477	T	C	18	12793478	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793477	T	G	18	12793478	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793478	T	A	18	12793479	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.01592652402579E-5	0.0
18	12793478	T	C	18	12793479	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.01592652402579E-5	0.0
18	12793478	T	G	18	12793479	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.01592652402579E-5	0.0
18	12793479	A	C	18	12793480	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.379+2T>G)	.	.	3.9469183429777E-5	0.0
18	12793479	A	G	18	12793480	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.379+2T>C)	.	.	3.9469183429777E-5	0.0
18	12793479	A	T	18	12793480	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.379+2T>A)	.	.	3.9469183429777E-5	0.0
18	12793480	C	A	18	12793481	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.379+1G>T)	.	.	6.24453633365032E-5	0.0
18	12793480	C	G	18	12793481	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.379+1G>C)	.	.	6.24453633365032E-5	0.0
18	12793480	C	T	18	12793481	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.379+1G>A)	.	.	8.18508521125715E-5	0.0
18	12793481	C	A	18	12793482	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.27477746119029E-5	0.0
18	12793481	C	G	18	12793482	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	5.31689052743192E-5	0.0
18	12793481	C	T	18	12793482	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.27477746119029E-5	0.0
18	12793482	T	A	18	12793483	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	0.0012338591716885	0.008
18	12793482	T	C	18	12793483	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	0.0012338591716885	0.004
18	12793482	T	G	18	12793483	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	0.0012338591716885	0.004
18	12793483	G	A	18	12793484	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	1.02728736892418E-4	0.008
18	12793483	G	C	18	12793484	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.27477746119029E-5	0.0
18	12793483	G	T	18	12793484	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.27477746119029E-5	0.0
18	12793572	A	C	18	12793573	n	y	UTR3	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	2.85159348457159E-4	0.008
18	12793572	A	G	18	12793573	n	y	UTR3	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	2.85159348457159E-4	0.008
18	12793572	A	T	18	12793573	n	y	UTR3	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	6.12261273777789E-4	0.008
18	12793573	A	C	18	12793574	n	y	UTR3	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	0.00331012041125863	0.022
18	12793573	A	G	18	12793574	n	y	UTR3	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	0.00331012041125863	0.022
18	12793573	A	T	18	12793574	n	y	UTR3	PTPN2	.	.	exonic	ENSG00000175354	unknown	UNKNOWN	0.00383093395693349	0.026
18	12793574	C	A	18	12793575	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.287-1G>T)	.	.	4.68952365742707E-5	0.006
18	12793574	C	G	18	12793575	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.287-1G>C)	.	.	4.68952365742707E-5	0.004
18	12793574	C	T	18	12793575	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.287-1G>A)	.	.	4.68952365742707E-5	0.002
18	12793575	T	A	18	12793576	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.287-2A>T)	.	.	4.7586829694842E-5	0.0
18	12793575	T	C	18	12793576	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.287-2A>G)	.	.	4.7586829694842E-5	0.0
18	12793575	T	G	18	12793576	n	y	UTR3	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591901:exon4:c.287-2A>C)	.	.	4.7586829694842E-5	0.0
18	12793576	G	A	18	12793577	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	1.00675832680685E-4	0.004
18	12793576	G	C	18	12793577	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	1.00675832680685E-4	0.004
18	12793576	G	T	18	12793577	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	1.00675832680685E-4	0.002
18	12793577	T	A	18	12793578	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.5264820592664E-5	0.006
18	12793577	T	C	18	12793578	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	3.37848503696801E-5	0.024
18	12793577	T	G	18	12793578	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	3.37848503696801E-5	0.044
18	12793578	A	C	18	12793579	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793578	A	G	18	12793579	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793578	A	T	18	12793579	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.006
18	12793579	A	C	18	12793580	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793579	A	G	18	12793580	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793579	A	T	18	12793580	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	3.09395893123295E-5	0.002
18	12793580	A	C	18	12793581	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793580	A	G	18	12793581	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.002
18	12793580	A	T	18	12793581	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.78684081159298E-5	0.004
18	12793581	A	C	18	12793582	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.8785843835862E-5	0.09
18	12793581	A	G	18	12793582	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.8785843835862E-5	0.09
18	12793581	A	T	18	12793582	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	4.8785843835862E-5	0.086
18	12793582	C	A	18	12793583	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	7.27456659313109E-5	0.0
18	12793582	C	G	18	12793583	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	7.27456659313109E-5	0.0
18	12793582	C	T	18	12793583	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	7.27456659313109E-5	0.0
18	12793583	A	C	18	12793584	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	3.09395893123295E-5	0.002
18	12793583	A	G	18	12793584	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	3.09395893123295E-5	0.002
18	12793583	A	T	18	12793584	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	3.09395893123295E-5	0.002
18	12793584	T	A	18	12793585	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.36106780005268E-5	0.0
18	12793584	T	C	18	12793585	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.36106780005268E-5	0.002
18	12793584	T	G	18	12793585	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	2.36106780005268E-5	0.006
18	12793585	A	C	18	12793586	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	7.64928256872287E-4	0.0
18	12793585	A	G	18	12793586	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	7.64928256872287E-4	0.0
18	12793585	A	T	18	12793586	n	y	UTR3	PTPN2	.	.	UTR3	ENSG00000175354	.	.	6.12261273777789E-4	0.0
18	12794483	C	A	18	12794484	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon10:c.G1111T:p.A371S;PTPN2:NM_080422:exon9:c.G1042T:p.A348S;PTPN2:NM_002828:exon9:c.G1042T:p.A348S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon10:c.G1111T:p.A371S;ENSG00000175354:ENST00000327283:exon9:c.G1042T:p.A348S;ENSG00000175354:ENST00000591497:exon9:c.G955T:p.A319S;ENSG00000175354:ENST00000309660:exon9:c.G1042T:p.A348S;	4.5244553730961E-5	0.0
18	12794483	C	G	18	12794484	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon10:c.G1111C:p.A371P;PTPN2:NM_080422:exon9:c.G1042C:p.A348P;PTPN2:NM_002828:exon9:c.G1042C:p.A348P;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon10:c.G1111C:p.A371P;ENSG00000175354:ENST00000327283:exon9:c.G1042C:p.A348P;ENSG00000175354:ENST00000591497:exon9:c.G955C:p.A319P;ENSG00000175354:ENST00000309660:exon9:c.G1042C:p.A348P;	1.07401156295811E-4	0.002
18	12794483	C	T	18	12794484	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon10:c.G1111A:p.A371T;PTPN2:NM_080422:exon9:c.G1042A:p.A348T;PTPN2:NM_002828:exon9:c.G1042A:p.A348T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon10:c.G1111A:p.A371T;ENSG00000175354:ENST00000327283:exon9:c.G1042A:p.A348T;ENSG00000175354:ENST00000591497:exon9:c.G955A:p.A319T;ENSG00000175354:ENST00000309660:exon9:c.G1042A:p.A348T;	4.58225740855316E-5	0.004
18	12794484	A	C	18	12794485	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon10:c.T1110G:p.S370R;PTPN2:NM_080422:exon9:c.T1041G:p.S347R;PTPN2:NM_002828:exon9:c.T1041G:p.S347R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon10:c.T1110G:p.S370R;ENSG00000175354:ENST00000327283:exon9:c.T1041G:p.S347R;ENSG00000175354:ENST00000591497:exon9:c.T954G:p.S318R;ENSG00000175354:ENST00000309660:exon9:c.T1041G:p.S347R;	3.67544579040604E-4	0.102
18	12794484	A	G	18	12794485	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_001207013:exon10:c.T1110C:p.S370S;PTPN2:NM_080422:exon9:c.T1041C:p.S347S;PTPN2:NM_002828:exon9:c.T1041C:p.S347S;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon10:c.T1110C:p.S370S;ENSG00000175354:ENST00000327283:exon9:c.T1041C:p.S347S;ENSG00000175354:ENST00000591497:exon9:c.T954C:p.S318S;ENSG00000175354:ENST00000309660:exon9:c.T1041C:p.S347S;	4.69835504795574E-5	0.0
18	12794484	A	T	18	12794485	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon10:c.T1110A:p.S370R;PTPN2:NM_080422:exon9:c.T1041A:p.S347R;PTPN2:NM_002828:exon9:c.T1041A:p.S347R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon10:c.T1110A:p.S370R;ENSG00000175354:ENST00000327283:exon9:c.T1041A:p.S347R;ENSG00000175354:ENST00000591497:exon9:c.T954A:p.S318R;ENSG00000175354:ENST00000309660:exon9:c.T1041A:p.S347R;	8.76621884074092E-5	0.002
18	12794485	C	A	18	12794486	y	y	splicing	PTPN2(NM_080422:exon10:c.1041-1G>T;NM_001207013:exon11:c.1110-1G>T;NM_002828:exon10:c.1041-1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon10:c.1041-1G>T;ENST00000591115:exon11:c.1110-1G>T;ENST00000591901:exon3:c.185-1G>T;ENST00000585666:exon4:c.286-1G>T;ENST00000587703:exon5:c.316-1G>T;ENST00000309660:exon10:c.1041-1G>T;ENST00000591497:exon10:c.954-1G>T)	.	.	0.999988247793601	0.918
18	12794485	C	G	18	12794486	y	y	splicing	PTPN2(NM_080422:exon10:c.1041-1G>C;NM_001207013:exon11:c.1110-1G>C;NM_002828:exon10:c.1041-1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon10:c.1041-1G>C;ENST00000591115:exon11:c.1110-1G>C;ENST00000591901:exon3:c.185-1G>C;ENST00000585666:exon4:c.286-1G>C;ENST00000587703:exon5:c.316-1G>C;ENST00000309660:exon10:c.1041-1G>C;ENST00000591497:exon10:c.954-1G>C)	.	.	0.999988247793601	0.924
18	12794485	C	T	18	12794486	y	y	splicing	PTPN2(NM_080422:exon10:c.1041-1G>A;NM_001207013:exon11:c.1110-1G>A;NM_002828:exon10:c.1041-1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon10:c.1041-1G>A;ENST00000591115:exon11:c.1110-1G>A;ENST00000591901:exon3:c.185-1G>A;ENST00000585666:exon4:c.286-1G>A;ENST00000587703:exon5:c.316-1G>A;ENST00000309660:exon10:c.1041-1G>A;ENST00000591497:exon10:c.954-1G>A)	.	.	0.999988247793601	0.926
18	12794486	T	A	18	12794487	y	y	splicing	PTPN2(NM_080422:exon10:c.1041-2A>T;NM_001207013:exon11:c.1110-2A>T;NM_002828:exon10:c.1041-2A>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon10:c.1041-2A>T;ENST00000591115:exon11:c.1110-2A>T;ENST00000591901:exon3:c.185-2A>T;ENST00000585666:exon4:c.286-2A>T;ENST00000587703:exon5:c.316-2A>T;ENST00000309660:exon10:c.1041-2A>T;ENST00000591497:exon10:c.954-2A>T)	.	.	0.999993519952936	0.926
18	12794486	T	C	18	12794487	y	y	splicing	PTPN2(NM_080422:exon10:c.1041-2A>G;NM_001207013:exon11:c.1110-2A>G;NM_002828:exon10:c.1041-2A>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon10:c.1041-2A>G;ENST00000591115:exon11:c.1110-2A>G;ENST00000591901:exon3:c.185-2A>G;ENST00000585666:exon4:c.286-2A>G;ENST00000587703:exon5:c.316-2A>G;ENST00000309660:exon10:c.1041-2A>G;ENST00000591497:exon10:c.954-2A>G)	.	.	0.999993519952936	0.926
18	12794486	T	G	18	12794487	y	y	splicing	PTPN2(NM_080422:exon10:c.1041-2A>C;NM_001207013:exon11:c.1110-2A>C;NM_002828:exon10:c.1041-2A>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon10:c.1041-2A>C;ENST00000591115:exon11:c.1110-2A>C;ENST00000591901:exon3:c.185-2A>C;ENST00000585666:exon4:c.286-2A>C;ENST00000587703:exon5:c.316-2A>C;ENST00000309660:exon10:c.1041-2A>C;ENST00000591497:exon10:c.954-2A>C)	.	.	0.999993519952936	0.926
18	12794487	A	C	18	12794488	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.993575462825549	0.678
18	12794487	A	G	18	12794488	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.46533602393533E-5	0.02
18	12794487	A	T	18	12794488	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00428274786382211	0.182
18	12794488	T	A	18	12794489	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.81435021071589E-5	0.002
18	12794488	T	C	18	12794489	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.33443376861345E-4	0.05
18	12794488	T	G	18	12794489	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.8795151080991E-5	0.056
18	12794489	G	A	18	12794490	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.24275692793804E-5	0.002
18	12794489	G	C	18	12794490	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.86948220812908E-4	0.09
18	12794489	G	T	18	12794490	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.86948220812908E-4	0.086
18	12794490	A	C	18	12794491	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.37024890067461E-4	0.112
18	12794490	A	G	18	12794491	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.33543862451204E-4	0.02
18	12794490	A	T	18	12794491	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.61962633950604E-4	0.1
18	12794491	G	A	18	12794492	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.69257936935689E-5	0.032
18	12794491	G	C	18	12794492	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.31355710780971E-5	0.074
18	12794491	G	T	18	12794492	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.57362168323668E-4	0.154
18	12794492	G	A	18	12794493	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.81831366365579E-5	0.068
18	12794492	G	C	18	12794493	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.78403395679849E-4	0.028
18	12794492	G	T	18	12794493	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.30088083097788E-4	0.274
18	12794493	A	C	18	12794494	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.25593548232609E-4	0.152
18	12794493	A	G	18	12794494	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.62300598296898E-4	0.006
18	12794493	A	T	18	12794494	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.6507312727942E-4	0.15
18	12794494	A	C	18	12794495	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.81173173906672E-5	0.098
18	12794494	A	G	18	12794495	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.81646951732214E-5	0.004
18	12794494	A	T	18	12794495	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.6705176311393E-5	0.062
18	12794495	A	C	18	12794496	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999526675721772	0.944
18	12794495	A	G	18	12794496	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00173358456671401	0.074
18	12794495	A	T	18	12794496	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00180103988309543	0.222
18	12794496	T	A	18	12794497	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.98289813263682E-5	0.008
18	12794496	T	C	18	12794497	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.66652767960435E-5	0.02
18	12794496	T	G	18	12794497	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.76802808959807E-5	0.004
18	12801961	A	C	18	12801962	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.80109675654916E-5	0.0
18	12801961	A	G	18	12801962	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.58915390719906E-5	0.0
18	12801961	A	T	18	12801962	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.90866578596279E-5	0.0
18	12801962	A	C	18	12801963	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.04000746356098E-4	0.002
18	12801962	A	G	18	12801963	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.04000746356098E-4	0.002
18	12801962	A	T	18	12801963	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.04000746356098E-4	0.0
18	12801963	G	A	18	12801964	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.45095480473679E-5	0.0
18	12801963	G	C	18	12801964	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.78514306133859E-5	0.028
18	12801963	G	T	18	12801964	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.06378883875242E-4	0.008
18	12801964	C	A	18	12801965	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.966213490876518	0.642
18	12801964	C	G	18	12801965	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.431727355860889	0.436
18	12801964	C	T	18	12801965	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.954193820285722	0.648
18	12801965	T	A	18	12801966	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0972405628664235	0.336
18	12801965	T	C	18	12801966	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.443662374854783	0.402
18	12801965	T	G	18	12801966	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.126099680482734	0.322
18	12801966	T	A	18	12801967	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.747378811223485	0.518
18	12801966	T	C	18	12801967	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.05509669653573E-4	0.044
18	12801966	T	G	18	12801967	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.826724079630779	0.494
18	12801967	A	C	18	12801968	y	y	splicing	PTPN2(NM_080422:exon9:c.1040+2T>G;NM_080423:exon9:c.1040+2T>G;NM_001207013:exon10:c.1109+2T>G;NM_002828:exon9:c.1040+2T>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon9:c.1040+2T>G;ENST00000591115:exon10:c.1109+2T>G;ENST00000591901:exon2:c.184+2T>G;ENST00000353319:exon9:c.1040+2T>G;ENST00000585666:exon3:c.285+2T>G;ENST00000587703:exon4:c.315+2T>G;ENST00000309660:exon9:c.1040+2T>G;ENST00000591497:exon9:c.953+2T>G)	.	.	0.999946188727699	0.948
18	12801967	A	G	18	12801968	y	y	splicing	PTPN2(NM_080422:exon9:c.1040+2T>C;NM_080423:exon9:c.1040+2T>C;NM_001207013:exon10:c.1109+2T>C;NM_002828:exon9:c.1040+2T>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon9:c.1040+2T>C;ENST00000591115:exon10:c.1109+2T>C;ENST00000591901:exon2:c.184+2T>C;ENST00000353319:exon9:c.1040+2T>C;ENST00000585666:exon3:c.285+2T>C;ENST00000587703:exon4:c.315+2T>C;ENST00000309660:exon9:c.1040+2T>C;ENST00000591497:exon9:c.953+2T>C)	.	.	0.955278407014868	0.658
18	12801967	A	T	18	12801968	y	y	splicing	PTPN2(NM_080422:exon9:c.1040+2T>A;NM_080423:exon9:c.1040+2T>A;NM_001207013:exon10:c.1109+2T>A;NM_002828:exon9:c.1040+2T>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon9:c.1040+2T>A;ENST00000591115:exon10:c.1109+2T>A;ENST00000591901:exon2:c.184+2T>A;ENST00000353319:exon9:c.1040+2T>A;ENST00000585666:exon3:c.285+2T>A;ENST00000587703:exon4:c.315+2T>A;ENST00000309660:exon9:c.1040+2T>A;ENST00000591497:exon9:c.953+2T>A)	.	.	0.99994568797423	0.948
18	12801968	C	A	18	12801969	y	y	splicing	PTPN2(NM_080422:exon9:c.1040+1G>T;NM_080423:exon9:c.1040+1G>T;NM_001207013:exon10:c.1109+1G>T;NM_002828:exon9:c.1040+1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon9:c.1040+1G>T;ENST00000591115:exon10:c.1109+1G>T;ENST00000591901:exon2:c.184+1G>T;ENST00000353319:exon9:c.1040+1G>T;ENST00000585666:exon3:c.285+1G>T;ENST00000587703:exon4:c.315+1G>T;ENST00000309660:exon9:c.1040+1G>T;ENST00000591497:exon9:c.953+1G>T)	.	.	0.999949496871441	0.946
18	12801968	C	G	18	12801969	y	y	splicing	PTPN2(NM_080422:exon9:c.1040+1G>C;NM_080423:exon9:c.1040+1G>C;NM_001207013:exon10:c.1109+1G>C;NM_002828:exon9:c.1040+1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon9:c.1040+1G>C;ENST00000591115:exon10:c.1109+1G>C;ENST00000591901:exon2:c.184+1G>C;ENST00000353319:exon9:c.1040+1G>C;ENST00000585666:exon3:c.285+1G>C;ENST00000587703:exon4:c.315+1G>C;ENST00000309660:exon9:c.1040+1G>C;ENST00000591497:exon9:c.953+1G>C)	.	.	0.999949496871441	0.946
18	12801968	C	T	18	12801969	y	y	splicing	PTPN2(NM_080422:exon9:c.1040+1G>A;NM_080423:exon9:c.1040+1G>A;NM_001207013:exon10:c.1109+1G>A;NM_002828:exon9:c.1040+1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon9:c.1040+1G>A;ENST00000591115:exon10:c.1109+1G>A;ENST00000591901:exon2:c.184+1G>A;ENST00000353319:exon9:c.1040+1G>A;ENST00000585666:exon3:c.285+1G>A;ENST00000587703:exon4:c.315+1G>A;ENST00000309660:exon9:c.1040+1G>A;ENST00000591497:exon9:c.953+1G>A)	.	.	0.999949496871441	0.942
18	12801969	C	A	18	12801970	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.G1040T:p.R347M;PTPN2:NM_001207013:exon9:c.G1109T:p.S370I;PTPN2:NM_080422:exon8:c.G1040T:p.S347I;PTPN2:NM_002828:exon8:c.G1040T:p.S347I;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.G1109T:p.S370I;ENSG00000175354:ENST00000327283:exon8:c.G1040T:p.S347I;ENSG00000175354:ENST00000591497:exon8:c.G953T:p.S318I;ENSG00000175354:ENST00000309660:exon8:c.G1040T:p.S347I;ENSG00000175354:ENST00000353319:exon8:c.G1040T:p.R347M;	0.999947502019753	0.96
18	12801969	C	G	18	12801970	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.G1040C:p.R347T;PTPN2:NM_001207013:exon9:c.G1109C:p.S370T;PTPN2:NM_080422:exon8:c.G1040C:p.S347T;PTPN2:NM_002828:exon8:c.G1040C:p.S347T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.G1109C:p.S370T;ENSG00000175354:ENST00000327283:exon8:c.G1040C:p.S347T;ENSG00000175354:ENST00000591497:exon8:c.G953C:p.S318T;ENSG00000175354:ENST00000309660:exon8:c.G1040C:p.S347T;ENSG00000175354:ENST00000353319:exon8:c.G1040C:p.R347T;	0.999035984672972	0.568
18	12801969	C	T	18	12801970	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.G1040A:p.R347K;PTPN2:NM_001207013:exon9:c.G1109A:p.S370N;PTPN2:NM_080422:exon8:c.G1040A:p.S347N;PTPN2:NM_002828:exon8:c.G1040A:p.S347N;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.G1109A:p.S370N;ENSG00000175354:ENST00000327283:exon8:c.G1040A:p.S347N;ENSG00000175354:ENST00000591497:exon8:c.G953A:p.S318N;ENSG00000175354:ENST00000309660:exon8:c.G1040A:p.S347N;ENSG00000175354:ENST00000353319:exon8:c.G1040A:p.R347K;	0.99414398138523	0.832
18	12801970	T	A	18	12801971	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.A1039T:p.R347W;PTPN2:NM_001207013:exon9:c.A1108T:p.S370C;PTPN2:NM_080422:exon8:c.A1039T:p.S347C;PTPN2:NM_002828:exon8:c.A1039T:p.S347C;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.A1108T:p.S370C;ENSG00000175354:ENST00000327283:exon8:c.A1039T:p.S347C;ENSG00000175354:ENST00000591497:exon8:c.A952T:p.S318C;ENSG00000175354:ENST00000309660:exon8:c.A1039T:p.S347C;ENSG00000175354:ENST00000353319:exon8:c.A1039T:p.R347W;	0.997227983416159	0.916
18	12801970	T	C	18	12801971	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.A1039G:p.R347G;PTPN2:NM_001207013:exon9:c.A1108G:p.S370G;PTPN2:NM_080422:exon8:c.A1039G:p.S347G;PTPN2:NM_002828:exon8:c.A1039G:p.S347G;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.A1108G:p.S370G;ENSG00000175354:ENST00000327283:exon8:c.A1039G:p.S347G;ENSG00000175354:ENST00000591497:exon8:c.A952G:p.S318G;ENSG00000175354:ENST00000309660:exon8:c.A1039G:p.S347G;ENSG00000175354:ENST00000353319:exon8:c.A1039G:p.R347G;	0.834659013002381	0.622
18	12801970	T	G	18	12801971	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon9:c.A1108C:p.S370R;PTPN2:NM_080422:exon8:c.A1039C:p.S347R;PTPN2:NM_002828:exon8:c.A1039C:p.S347R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.A1108C:p.S370R;ENSG00000175354:ENST00000327283:exon8:c.A1039C:p.S347R;ENSG00000175354:ENST00000591497:exon8:c.A952C:p.S318R;ENSG00000175354:ENST00000309660:exon8:c.A1039C:p.S347R;	0.96531111003367	0.826
18	12801971	C	A	18	12801972	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.G1038T:p.E346D;PTPN2:NM_001207013:exon9:c.G1107T:p.E369D;PTPN2:NM_080422:exon8:c.G1038T:p.E346D;PTPN2:NM_002828:exon8:c.G1038T:p.E346D;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.G1107T:p.E369D;ENSG00000175354:ENST00000327283:exon8:c.G1038T:p.E346D;ENSG00000175354:ENST00000591497:exon8:c.G951T:p.E317D;ENSG00000175354:ENST00000309660:exon8:c.G1038T:p.E346D;ENSG00000175354:ENST00000353319:exon8:c.G1038T:p.E346D;	9.36743796254417E-4	0.02
18	12801971	C	G	18	12801972	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.G1038C:p.E346D;PTPN2:NM_001207013:exon9:c.G1107C:p.E369D;PTPN2:NM_080422:exon8:c.G1038C:p.E346D;PTPN2:NM_002828:exon8:c.G1038C:p.E346D;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.G1107C:p.E369D;ENSG00000175354:ENST00000327283:exon8:c.G1038C:p.E346D;ENSG00000175354:ENST00000591497:exon8:c.G951C:p.E317D;ENSG00000175354:ENST00000309660:exon8:c.G1038C:p.E346D;ENSG00000175354:ENST00000353319:exon8:c.G1038C:p.E346D;	1.25047047263442E-4	0.016
18	12801971	C	T	18	12801972	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon8:c.G1038A:p.E346E;PTPN2:NM_001207013:exon9:c.G1107A:p.E369E;PTPN2:NM_080422:exon8:c.G1038A:p.E346E;PTPN2:NM_002828:exon8:c.G1038A:p.E346E;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.G1107A:p.E369E;ENSG00000175354:ENST00000327283:exon8:c.G1038A:p.E346E;ENSG00000175354:ENST00000591497:exon8:c.G951A:p.E317E;ENSG00000175354:ENST00000309660:exon8:c.G1038A:p.E346E;ENSG00000175354:ENST00000353319:exon8:c.G1038A:p.E346E;	7.36612828043894E-5	0.002
18	12802149	T	A	18	12802150	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.A860T:p.K287I;PTPN2:NM_001207013:exon9:c.A929T:p.K310I;PTPN2:NM_080422:exon8:c.A860T:p.K287I;PTPN2:NM_002828:exon8:c.A860T:p.K287I;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.A929T:p.K310I;ENSG00000175354:ENST00000327283:exon8:c.A860T:p.K287I;ENSG00000175354:ENST00000591497:exon8:c.A773T:p.K258I;ENSG00000175354:ENST00000309660:exon8:c.A860T:p.K287I;ENSG00000175354:ENST00000353319:exon8:c.A860T:p.K287I;	0.770175568944688	0.576
18	12802149	T	C	18	12802150	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.A860G:p.K287R;PTPN2:NM_001207013:exon9:c.A929G:p.K310R;PTPN2:NM_080422:exon8:c.A860G:p.K287R;PTPN2:NM_002828:exon8:c.A860G:p.K287R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.A929G:p.K310R;ENSG00000175354:ENST00000327283:exon8:c.A860G:p.K287R;ENSG00000175354:ENST00000591497:exon8:c.A773G:p.K258R;ENSG00000175354:ENST00000309660:exon8:c.A860G:p.K287R;ENSG00000175354:ENST00000353319:exon8:c.A860G:p.K287R;	0.212726041397027	0.258
18	12802149	T	G	18	12802150	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.A860C:p.K287T;PTPN2:NM_001207013:exon9:c.A929C:p.K310T;PTPN2:NM_080422:exon8:c.A860C:p.K287T;PTPN2:NM_002828:exon8:c.A860C:p.K287T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.A929C:p.K310T;ENSG00000175354:ENST00000327283:exon8:c.A860C:p.K287T;ENSG00000175354:ENST00000591497:exon8:c.A773C:p.K258T;ENSG00000175354:ENST00000309660:exon8:c.A860C:p.K287T;ENSG00000175354:ENST00000353319:exon8:c.A860C:p.K287T;	0.58003350889564	0.602
18	12802150	T	A	18	12802151	y	n	exonic	PTPN2	stopgain SNV	PTPN2:NM_080423:exon8:c.A859T:p.K287X;PTPN2:NM_001207013:exon9:c.A928T:p.K310X;PTPN2:NM_080422:exon8:c.A859T:p.K287X;PTPN2:NM_002828:exon8:c.A859T:p.K287X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000591115:exon9:c.A928T:p.K310X;ENSG00000175354:ENST00000327283:exon8:c.A859T:p.K287X;ENSG00000175354:ENST00000591497:exon8:c.A772T:p.K258X;ENSG00000175354:ENST00000309660:exon8:c.A859T:p.K287X;ENSG00000175354:ENST00000353319:exon8:c.A859T:p.K287X;	0.0343129543893977	0.318
18	12802150	T	C	18	12802151	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.A859G:p.K287E;PTPN2:NM_001207013:exon9:c.A928G:p.K310E;PTPN2:NM_080422:exon8:c.A859G:p.K287E;PTPN2:NM_002828:exon8:c.A859G:p.K287E;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.A928G:p.K310E;ENSG00000175354:ENST00000327283:exon8:c.A859G:p.K287E;ENSG00000175354:ENST00000591497:exon8:c.A772G:p.K258E;ENSG00000175354:ENST00000309660:exon8:c.A859G:p.K287E;ENSG00000175354:ENST00000353319:exon8:c.A859G:p.K287E;	6.79583121683619E-4	0.022
18	12802150	T	G	18	12802151	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon8:c.A859C:p.K287Q;PTPN2:NM_001207013:exon9:c.A928C:p.K310Q;PTPN2:NM_080422:exon8:c.A859C:p.K287Q;PTPN2:NM_002828:exon8:c.A859C:p.K287Q;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon9:c.A928C:p.K310Q;ENSG00000175354:ENST00000327283:exon8:c.A859C:p.K287Q;ENSG00000175354:ENST00000591497:exon8:c.A772C:p.K258Q;ENSG00000175354:ENST00000309660:exon8:c.A859C:p.K287Q;ENSG00000175354:ENST00000353319:exon8:c.A859C:p.K287Q;	0.00714296381544614	0.2
18	12802151	C	A	18	12802152	y	n	splicing	PTPN2(NM_080422:exon9:c.859-1G>T;NM_080423:exon9:c.859-1G>T;NM_001207013:exon10:c.928-1G>T;NM_002828:exon9:c.859-1G>T)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon9:c.859-1G>T;ENST00000591115:exon10:c.928-1G>T;ENST00000353319:exon9:c.859-1G>T;ENST00000585666:exon3:c.104-1G>T;ENST00000587703:exon4:c.134-1G>T;ENST00000309660:exon9:c.859-1G>T;ENST00000591497:exon9:c.772-1G>T;ENST00000591305:exon7:c.633-1G>T)	unknown	UNKNOWN	0.999989072007339	0.944
18	12802151	C	G	18	12802152	y	n	splicing	PTPN2(NM_080422:exon9:c.859-1G>C;NM_080423:exon9:c.859-1G>C;NM_001207013:exon10:c.928-1G>C;NM_002828:exon9:c.859-1G>C)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon9:c.859-1G>C;ENST00000591115:exon10:c.928-1G>C;ENST00000353319:exon9:c.859-1G>C;ENST00000585666:exon3:c.104-1G>C;ENST00000587703:exon4:c.134-1G>C;ENST00000309660:exon9:c.859-1G>C;ENST00000591497:exon9:c.772-1G>C;ENST00000591305:exon7:c.633-1G>C)	unknown	UNKNOWN	0.999989072007339	0.944
18	12802151	C	T	18	12802152	y	n	splicing	PTPN2(NM_080422:exon9:c.859-1G>A;NM_080423:exon9:c.859-1G>A;NM_001207013:exon10:c.928-1G>A;NM_002828:exon9:c.859-1G>A)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon9:c.859-1G>A;ENST00000591115:exon10:c.928-1G>A;ENST00000353319:exon9:c.859-1G>A;ENST00000585666:exon3:c.104-1G>A;ENST00000587703:exon4:c.134-1G>A;ENST00000309660:exon9:c.859-1G>A;ENST00000591497:exon9:c.772-1G>A;ENST00000591305:exon7:c.633-1G>A)	unknown	UNKNOWN	0.999989072007339	0.944
18	12802152	T	A	18	12802153	y	n	splicing	PTPN2(NM_080422:exon9:c.859-2A>T;NM_080423:exon9:c.859-2A>T;NM_001207013:exon10:c.928-2A>T;NM_002828:exon9:c.859-2A>T)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon9:c.859-2A>T;ENST00000591115:exon10:c.928-2A>T;ENST00000353319:exon9:c.859-2A>T;ENST00000585666:exon3:c.104-2A>T;ENST00000587703:exon4:c.134-2A>T;ENST00000309660:exon9:c.859-2A>T;ENST00000591497:exon9:c.772-2A>T;ENST00000591305:exon7:c.633-2A>T)	unknown	UNKNOWN	0.999988247793601	0.94
18	12802152	T	C	18	12802153	y	n	splicing	PTPN2(NM_080422:exon9:c.859-2A>G;NM_080423:exon9:c.859-2A>G;NM_001207013:exon10:c.928-2A>G;NM_002828:exon9:c.859-2A>G)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon9:c.859-2A>G;ENST00000591115:exon10:c.928-2A>G;ENST00000353319:exon9:c.859-2A>G;ENST00000585666:exon3:c.104-2A>G;ENST00000587703:exon4:c.134-2A>G;ENST00000309660:exon9:c.859-2A>G;ENST00000591497:exon9:c.772-2A>G;ENST00000591305:exon7:c.633-2A>G)	unknown	UNKNOWN	0.999988247793601	0.94
18	12802152	T	G	18	12802153	y	n	splicing	PTPN2(NM_080422:exon9:c.859-2A>C;NM_080423:exon9:c.859-2A>C;NM_001207013:exon10:c.928-2A>C;NM_002828:exon9:c.859-2A>C)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon9:c.859-2A>C;ENST00000591115:exon10:c.928-2A>C;ENST00000353319:exon9:c.859-2A>C;ENST00000585666:exon3:c.104-2A>C;ENST00000587703:exon4:c.134-2A>C;ENST00000309660:exon9:c.859-2A>C;ENST00000591497:exon9:c.772-2A>C;ENST00000591305:exon7:c.633-2A>C)	unknown	UNKNOWN	0.999988247793601	0.94
18	12802153	A	C	18	12802154	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.99727500490759	0.728
18	12802153	A	G	18	12802154	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.11922120019188E-4	0.016
18	12802153	A	T	18	12802154	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.30951837720783	0.504
18	12802154	G	A	18	12802155	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.80054979476252E-5	0.0
18	12802154	G	C	18	12802155	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.11602253150041E-5	0.0
18	12802154	G	T	18	12802155	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.79242104158269E-5	0.004
18	12802155	G	A	18	12802156	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.57168916593003E-4	0.002
18	12802155	G	C	18	12802156	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999950779333683	0.988
18	12802155	G	T	18	12802156	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00179032528213957	0.056
18	12802156	T	A	18	12802157	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.63344544356646E-5	0.008
18	12802156	T	C	18	12802157	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.26838349768522E-5	0.0
18	12802156	T	G	18	12802157	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.99456612375646E-5	0.006
18	12802157	A	C	18	12802158	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00294595522089363	0.12
18	12802157	A	G	18	12802158	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.51496261529941E-4	0.006
18	12802157	A	T	18	12802158	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00499349134754643	0.072
18	12802158	G	A	18	12802159	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.62281685326411E-5	0.0
18	12802158	G	C	18	12802159	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.26518536447339E-4	0.03
18	12802158	G	T	18	12802159	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.85526963958203E-4	0.03
18	12802159	G	A	18	12802160	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.2912065422758E-4	0.0
18	12802159	G	C	18	12802160	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0197774266021997	0.122
18	12802159	G	T	18	12802160	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00305893640219055	0.068
18	12802160	G	A	18	12802161	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.98324546223654E-4	0.0
18	12802160	G	C	18	12802161	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00164552639945201	0.068
18	12802160	G	T	18	12802161	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00221955337493421	0.062
18	12802161	A	C	18	12802162	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.094922768993315	0.56
18	12802161	A	G	18	12802162	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0236436507789736	0.234
18	12802161	A	T	18	12802162	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.792495314966985	0.68
18	12802162	A	C	18	12802163	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.016953070260936	0.194
18	12802162	A	G	18	12802163	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00268149562692076	0.148
18	12802162	A	T	18	12802163	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0334098904297879	0.238
18	12814194	A	C	18	12814195	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.82297107000799E-4	0.01
18	12814194	A	G	18	12814195	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.10718719968945E-4	0.01
18	12814194	A	T	18	12814195	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.61370140973256E-4	0.012
18	12814195	A	C	18	12814196	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.52507213036452E-4	0.002
18	12814195	A	G	18	12814196	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.47922604307802E-5	0.002
18	12814195	A	T	18	12814196	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.82954427735644E-4	0.004
18	12814196	G	A	18	12814197	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.59479160292533E-4	0.02
18	12814196	G	C	18	12814197	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.74413644470886E-4	0.03
18	12814196	G	T	18	12814197	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.49972964956268E-4	0.052
18	12814197	T	A	18	12814198	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.47497649733981E-4	0.04
18	12814197	T	C	18	12814198	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.02877129209657E-5	0.024
18	12814197	T	G	18	12814198	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.96906607177142E-5	0.03
18	12814198	T	A	18	12814199	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.591690324937386	0.574
18	12814198	T	C	18	12814199	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.358970848068475	0.402
18	12814198	T	G	18	12814199	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.311839021451613	0.522
18	12814199	T	A	18	12814200	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999886055229639	0.942
18	12814199	T	C	18	12814200	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.993148139732954	0.844
18	12814199	T	G	18	12814200	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999868067539711	0.98
18	12814200	A	C	18	12814201	y	y	splicing	PTPN2(NM_080422:exon8:c.858+2T>G;NM_080423:exon8:c.858+2T>G;NM_001207013:exon9:c.927+2T>G;NM_002828:exon8:c.858+2T>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.858+2T>G;ENST00000591115:exon9:c.927+2T>G;ENST00000353319:exon8:c.858+2T>G;ENST00000585666:exon2:c.103+2T>G;ENST00000309660:exon8:c.858+2T>G;ENST00000591497:exon8:c.771+2T>G;ENST00000591305:exon6:c.632+2T>G)	.	.	0.999990764389106	0.932
18	12814200	A	G	18	12814201	y	y	splicing	PTPN2(NM_080422:exon8:c.858+2T>C;NM_080423:exon8:c.858+2T>C;NM_001207013:exon9:c.927+2T>C;NM_002828:exon8:c.858+2T>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.858+2T>C;ENST00000591115:exon9:c.927+2T>C;ENST00000353319:exon8:c.858+2T>C;ENST00000585666:exon2:c.103+2T>C;ENST00000309660:exon8:c.858+2T>C;ENST00000591497:exon8:c.771+2T>C;ENST00000591305:exon6:c.632+2T>C)	.	.	0.993745131907064	0.612
18	12814200	A	T	18	12814201	y	y	splicing	PTPN2(NM_080422:exon8:c.858+2T>A;NM_080423:exon8:c.858+2T>A;NM_001207013:exon9:c.927+2T>A;NM_002828:exon8:c.858+2T>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.858+2T>A;ENST00000591115:exon9:c.927+2T>A;ENST00000353319:exon8:c.858+2T>A;ENST00000585666:exon2:c.103+2T>A;ENST00000309660:exon8:c.858+2T>A;ENST00000591497:exon8:c.771+2T>A;ENST00000591305:exon6:c.632+2T>A)	.	.	0.999990764389106	0.932
18	12814201	C	A	18	12814202	y	y	splicing	PTPN2(NM_080422:exon8:c.858+1G>T;NM_080423:exon8:c.858+1G>T;NM_001207013:exon9:c.927+1G>T;NM_002828:exon8:c.858+1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.858+1G>T;ENST00000591115:exon9:c.927+1G>T;ENST00000353319:exon8:c.858+1G>T;ENST00000585666:exon2:c.103+1G>T;ENST00000309660:exon8:c.858+1G>T;ENST00000591497:exon8:c.771+1G>T;ENST00000591305:exon6:c.632+1G>T)	.	.	0.999989528922238	0.934
18	12814201	C	G	18	12814202	y	y	splicing	PTPN2(NM_080422:exon8:c.858+1G>C;NM_080423:exon8:c.858+1G>C;NM_001207013:exon9:c.927+1G>C;NM_002828:exon8:c.858+1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.858+1G>C;ENST00000591115:exon9:c.927+1G>C;ENST00000353319:exon8:c.858+1G>C;ENST00000585666:exon2:c.103+1G>C;ENST00000309660:exon8:c.858+1G>C;ENST00000591497:exon8:c.771+1G>C;ENST00000591305:exon6:c.632+1G>C)	.	.	0.999989528922238	0.934
18	12814201	C	T	18	12814202	y	y	splicing	PTPN2(NM_080422:exon8:c.858+1G>A;NM_080423:exon8:c.858+1G>A;NM_001207013:exon9:c.927+1G>A;NM_002828:exon8:c.858+1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.858+1G>A;ENST00000591115:exon9:c.927+1G>A;ENST00000353319:exon8:c.858+1G>A;ENST00000585666:exon2:c.103+1G>A;ENST00000309660:exon8:c.858+1G>A;ENST00000591497:exon8:c.771+1G>A;ENST00000591305:exon6:c.632+1G>A)	.	.	0.999989528922238	0.934
18	12814202	C	A	18	12814203	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.G858T:p.Q286H;PTPN2:NM_001207013:exon8:c.G927T:p.Q309H;PTPN2:NM_080422:exon7:c.G858T:p.Q286H;PTPN2:NM_002828:exon7:c.G858T:p.Q286H;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.G927T:p.Q309H;ENSG00000175354:ENST00000327283:exon7:c.G858T:p.Q286H;ENSG00000175354:ENST00000591497:exon7:c.G771T:p.Q257H;ENSG00000175354:ENST00000309660:exon7:c.G858T:p.Q286H;ENSG00000175354:ENST00000353319:exon7:c.G858T:p.Q286H;	0.999992806544101	1.0
18	12814202	C	G	18	12814203	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.G858C:p.Q286H;PTPN2:NM_001207013:exon8:c.G927C:p.Q309H;PTPN2:NM_080422:exon7:c.G858C:p.Q286H;PTPN2:NM_002828:exon7:c.G858C:p.Q286H;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.G927C:p.Q309H;ENSG00000175354:ENST00000327283:exon7:c.G858C:p.Q286H;ENSG00000175354:ENST00000591497:exon7:c.G771C:p.Q257H;ENSG00000175354:ENST00000309660:exon7:c.G858C:p.Q286H;ENSG00000175354:ENST00000353319:exon7:c.G858C:p.Q286H;	0.999998312535482	1.0
18	12814202	C	T	18	12814203	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon7:c.G858A:p.Q286Q;PTPN2:NM_001207013:exon8:c.G927A:p.Q309Q;PTPN2:NM_080422:exon7:c.G858A:p.Q286Q;PTPN2:NM_002828:exon7:c.G858A:p.Q286Q;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.G927A:p.Q309Q;ENSG00000175354:ENST00000327283:exon7:c.G858A:p.Q286Q;ENSG00000175354:ENST00000591497:exon7:c.G771A:p.Q257Q;ENSG00000175354:ENST00000309660:exon7:c.G858A:p.Q286Q;ENSG00000175354:ENST00000353319:exon7:c.G858A:p.Q286Q;	0.99996463577744	0.998
18	12814203	T	A	18	12814204	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.A857T:p.Q286L;PTPN2:NM_001207013:exon8:c.A926T:p.Q309L;PTPN2:NM_080422:exon7:c.A857T:p.Q286L;PTPN2:NM_002828:exon7:c.A857T:p.Q286L;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.A926T:p.Q309L;ENSG00000175354:ENST00000327283:exon7:c.A857T:p.Q286L;ENSG00000175354:ENST00000591497:exon7:c.A770T:p.Q257L;ENSG00000175354:ENST00000309660:exon7:c.A857T:p.Q286L;ENSG00000175354:ENST00000353319:exon7:c.A857T:p.Q286L;	0.999062550287309	0.932
18	12814203	T	C	18	12814204	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.A857G:p.Q286R;PTPN2:NM_001207013:exon8:c.A926G:p.Q309R;PTPN2:NM_080422:exon7:c.A857G:p.Q286R;PTPN2:NM_002828:exon7:c.A857G:p.Q286R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.A926G:p.Q309R;ENSG00000175354:ENST00000327283:exon7:c.A857G:p.Q286R;ENSG00000175354:ENST00000591497:exon7:c.A770G:p.Q257R;ENSG00000175354:ENST00000309660:exon7:c.A857G:p.Q286R;ENSG00000175354:ENST00000353319:exon7:c.A857G:p.Q286R;	0.993552923409489	0.822
18	12814203	T	G	18	12814204	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.A857C:p.Q286P;PTPN2:NM_001207013:exon8:c.A926C:p.Q309P;PTPN2:NM_080422:exon7:c.A857C:p.Q286P;PTPN2:NM_002828:exon7:c.A857C:p.Q286P;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.A926C:p.Q309P;ENSG00000175354:ENST00000327283:exon7:c.A857C:p.Q286P;ENSG00000175354:ENST00000591497:exon7:c.A770C:p.Q257P;ENSG00000175354:ENST00000309660:exon7:c.A857C:p.Q286P;ENSG00000175354:ENST00000353319:exon7:c.A857C:p.Q286P;	0.99700174382534	0.864
18	12814204	G	A	18	12814205	y	y	exonic	PTPN2	stopgain SNV	PTPN2:NM_080423:exon7:c.C856T:p.Q286X;PTPN2:NM_001207013:exon8:c.C925T:p.Q309X;PTPN2:NM_080422:exon7:c.C856T:p.Q286X;PTPN2:NM_002828:exon7:c.C856T:p.Q286X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000591115:exon8:c.C925T:p.Q309X;ENSG00000175354:ENST00000327283:exon7:c.C856T:p.Q286X;ENSG00000175354:ENST00000591497:exon7:c.C769T:p.Q257X;ENSG00000175354:ENST00000309660:exon7:c.C856T:p.Q286X;ENSG00000175354:ENST00000353319:exon7:c.C856T:p.Q286X;	0.999621932741479	0.984
18	12814204	G	C	18	12814205	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.C856G:p.Q286E;PTPN2:NM_001207013:exon8:c.C925G:p.Q309E;PTPN2:NM_080422:exon7:c.C856G:p.Q286E;PTPN2:NM_002828:exon7:c.C856G:p.Q286E;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.C925G:p.Q309E;ENSG00000175354:ENST00000327283:exon7:c.C856G:p.Q286E;ENSG00000175354:ENST00000591497:exon7:c.C769G:p.Q257E;ENSG00000175354:ENST00000309660:exon7:c.C856G:p.Q286E;ENSG00000175354:ENST00000353319:exon7:c.C856G:p.Q286E;	0.875029054200838	0.638
18	12814204	G	T	18	12814205	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.C856A:p.Q286K;PTPN2:NM_001207013:exon8:c.C925A:p.Q309K;PTPN2:NM_080422:exon7:c.C856A:p.Q286K;PTPN2:NM_002828:exon7:c.C856A:p.Q286K;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.C925A:p.Q309K;ENSG00000175354:ENST00000327283:exon7:c.C856A:p.Q286K;ENSG00000175354:ENST00000591497:exon7:c.C769A:p.Q257K;ENSG00000175354:ENST00000309660:exon7:c.C856A:p.Q286K;ENSG00000175354:ENST00000353319:exon7:c.C856A:p.Q286K;	0.9194805861701	0.676
18	12814353	A	C	18	12814354	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.T707G:p.M236R;PTPN2:NM_001207013:exon8:c.T776G:p.M259R;PTPN2:NM_080422:exon7:c.T707G:p.M236R;PTPN2:NM_002828:exon7:c.T707G:p.M236R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.T776G:p.M259R;ENSG00000175354:ENST00000327283:exon7:c.T707G:p.M236R;ENSG00000175354:ENST00000591497:exon7:c.T620G:p.M207R;ENSG00000175354:ENST00000309660:exon7:c.T707G:p.M236R;ENSG00000175354:ENST00000353319:exon7:c.T707G:p.M236R;	0.268438905985939	0.546
18	12814353	A	G	18	12814354	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.T707C:p.M236T;PTPN2:NM_001207013:exon8:c.T776C:p.M259T;PTPN2:NM_080422:exon7:c.T707C:p.M236T;PTPN2:NM_002828:exon7:c.T707C:p.M236T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.T776C:p.M259T;ENSG00000175354:ENST00000327283:exon7:c.T707C:p.M236T;ENSG00000175354:ENST00000591497:exon7:c.T620C:p.M207T;ENSG00000175354:ENST00000309660:exon7:c.T707C:p.M236T;ENSG00000175354:ENST00000353319:exon7:c.T707C:p.M236T;	0.337123241025546	0.418
18	12814353	A	T	18	12814354	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.T707A:p.M236K;PTPN2:NM_001207013:exon8:c.T776A:p.M259K;PTPN2:NM_080422:exon7:c.T707A:p.M236K;PTPN2:NM_002828:exon7:c.T707A:p.M236K;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.T776A:p.M259K;ENSG00000175354:ENST00000327283:exon7:c.T707A:p.M236K;ENSG00000175354:ENST00000591497:exon7:c.T620A:p.M207K;ENSG00000175354:ENST00000309660:exon7:c.T707A:p.M236K;ENSG00000175354:ENST00000353319:exon7:c.T707A:p.M236K;	0.268438905985939	0.544
18	12814354	T	A	18	12814355	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.A706T:p.M236L;PTPN2:NM_001207013:exon8:c.A775T:p.M259L;PTPN2:NM_080422:exon7:c.A706T:p.M236L;PTPN2:NM_002828:exon7:c.A706T:p.M236L;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.A775T:p.M259L;ENSG00000175354:ENST00000327283:exon7:c.A706T:p.M236L;ENSG00000175354:ENST00000591497:exon7:c.A619T:p.M207L;ENSG00000175354:ENST00000309660:exon7:c.A706T:p.M236L;ENSG00000175354:ENST00000353319:exon7:c.A706T:p.M236L;	0.00153702818365437	0.21
18	12814354	T	C	18	12814355	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.A706G:p.M236V;PTPN2:NM_001207013:exon8:c.A775G:p.M259V;PTPN2:NM_080422:exon7:c.A706G:p.M236V;PTPN2:NM_002828:exon7:c.A706G:p.M236V;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.A775G:p.M259V;ENSG00000175354:ENST00000327283:exon7:c.A706G:p.M236V;ENSG00000175354:ENST00000591497:exon7:c.A619G:p.M207V;ENSG00000175354:ENST00000309660:exon7:c.A706G:p.M236V;ENSG00000175354:ENST00000353319:exon7:c.A706G:p.M236V;	2.30577533042926E-5	0.0
18	12814354	T	G	18	12814355	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon7:c.A706C:p.M236L;PTPN2:NM_001207013:exon8:c.A775C:p.M259L;PTPN2:NM_080422:exon7:c.A706C:p.M236L;PTPN2:NM_002828:exon7:c.A706C:p.M236L;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon8:c.A775C:p.M259L;ENSG00000175354:ENST00000327283:exon7:c.A706C:p.M236L;ENSG00000175354:ENST00000591497:exon7:c.A619C:p.M207L;ENSG00000175354:ENST00000309660:exon7:c.A706C:p.M236L;ENSG00000175354:ENST00000353319:exon7:c.A706C:p.M236L;	6.02012478434085E-4	0.024
18	12814355	C	A	18	12814356	y	y	splicing	PTPN2(NM_080422:exon8:c.706-1G>T;NM_080423:exon8:c.706-1G>T;NM_001207013:exon9:c.775-1G>T;NM_002828:exon8:c.706-1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.706-1G>T;ENST00000591115:exon9:c.775-1G>T;ENST00000353319:exon8:c.706-1G>T;ENST00000309660:exon8:c.706-1G>T;ENST00000591497:exon8:c.619-1G>T;ENST00000591305:exon6:c.480-1G>T;ENST00000592776:exon8:c.606-1G>T)	.	.	0.999989072007339	0.934
18	12814355	C	G	18	12814356	y	y	splicing	PTPN2(NM_080422:exon8:c.706-1G>C;NM_080423:exon8:c.706-1G>C;NM_001207013:exon9:c.775-1G>C;NM_002828:exon8:c.706-1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.706-1G>C;ENST00000591115:exon9:c.775-1G>C;ENST00000353319:exon8:c.706-1G>C;ENST00000309660:exon8:c.706-1G>C;ENST00000591497:exon8:c.619-1G>C;ENST00000591305:exon6:c.480-1G>C;ENST00000592776:exon8:c.606-1G>C)	.	.	0.999989072007339	0.934
18	12814355	C	T	18	12814356	y	y	splicing	PTPN2(NM_080422:exon8:c.706-1G>A;NM_080423:exon8:c.706-1G>A;NM_001207013:exon9:c.775-1G>A;NM_002828:exon8:c.706-1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.706-1G>A;ENST00000591115:exon9:c.775-1G>A;ENST00000353319:exon8:c.706-1G>A;ENST00000309660:exon8:c.706-1G>A;ENST00000591497:exon8:c.619-1G>A;ENST00000591305:exon6:c.480-1G>A;ENST00000592776:exon8:c.606-1G>A)	.	.	0.999989072007339	0.934
18	12814356	T	A	18	12814357	y	y	splicing	PTPN2(NM_080422:exon8:c.706-2A>T;NM_080423:exon8:c.706-2A>T;NM_001207013:exon9:c.775-2A>T;NM_002828:exon8:c.706-2A>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.706-2A>T;ENST00000591115:exon9:c.775-2A>T;ENST00000353319:exon8:c.706-2A>T;ENST00000309660:exon8:c.706-2A>T;ENST00000591497:exon8:c.619-2A>T;ENST00000591305:exon6:c.480-2A>T;ENST00000592776:exon8:c.606-2A>T)	.	.	0.999988247793601	0.932
18	12814356	T	C	18	12814357	y	y	splicing	PTPN2(NM_080422:exon8:c.706-2A>G;NM_080423:exon8:c.706-2A>G;NM_001207013:exon9:c.775-2A>G;NM_002828:exon8:c.706-2A>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.706-2A>G;ENST00000591115:exon9:c.775-2A>G;ENST00000353319:exon8:c.706-2A>G;ENST00000309660:exon8:c.706-2A>G;ENST00000591497:exon8:c.619-2A>G;ENST00000591305:exon6:c.480-2A>G;ENST00000592776:exon8:c.606-2A>G)	.	.	0.999988247793601	0.932
18	12814356	T	G	18	12814357	y	y	splicing	PTPN2(NM_080422:exon8:c.706-2A>C;NM_080423:exon8:c.706-2A>C;NM_001207013:exon9:c.775-2A>C;NM_002828:exon8:c.706-2A>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon8:c.706-2A>C;ENST00000591115:exon9:c.775-2A>C;ENST00000353319:exon8:c.706-2A>C;ENST00000309660:exon8:c.706-2A>C;ENST00000591497:exon8:c.619-2A>C;ENST00000591305:exon6:c.480-2A>C;ENST00000592776:exon8:c.606-2A>C)	.	.	0.999988247793601	0.932
18	12814357	G	A	18	12814358	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.259255722719194	0.258
18	12814357	G	C	18	12814358	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999976569453889	0.946
18	12814357	G	T	18	12814358	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.993871425625223	0.714
18	12814358	C	A	18	12814359	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.80844490203599E-4	0.012
18	12814358	C	G	18	12814359	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.38881805317346E-4	0.018
18	12814358	C	T	18	12814359	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.65699227471248E-4	0.02
18	12814359	A	C	18	12814360	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.931541056503526	0.74
18	12814359	A	G	18	12814360	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.277096079332743	0.428
18	12814359	A	T	18	12814360	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.99945637797572	0.886
18	12814360	A	C	18	12814361	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00669519001444123	0.11
18	12814360	A	G	18	12814361	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.46914497467356E-5	0.002
18	12814360	A	T	18	12814361	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00522072480587198	0.126
18	12814361	G	A	18	12814362	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.5621737394261E-4	0.01
18	12814361	G	C	18	12814362	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.001134354495432	0.092
18	12814361	G	T	18	12814362	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00114586572673244	0.106
18	12814362	A	C	18	12814363	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.42541734725218E-4	0.038
18	12814362	A	G	18	12814363	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.8659193281218E-4	0.006
18	12814362	A	T	18	12814363	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00159917592471629	0.042
18	12814363	A	C	18	12814364	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00300572829636433	0.066
18	12814363	A	G	18	12814364	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.93172889762314E-4	0.014
18	12814363	A	T	18	12814364	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00316376824157218	0.082
18	12814364	A	C	18	12814365	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.774011657071405	0.544
18	12814364	A	G	18	12814365	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.129629540069258	0.358
18	12814364	A	T	18	12814365	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.923370312843927	0.588
18	12814365	G	A	18	12814366	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.21292569896456E-5	0.002
18	12814365	G	C	18	12814366	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.84011478601935E-5	0.006
18	12814365	G	T	18	12814366	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.86363169147893E-4	0.012
18	12814366	G	A	18	12814367	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.69252279002818E-4	0.0
18	12814366	G	C	18	12814367	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.33468288131009E-4	0.02
18	12814366	G	T	18	12814367	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.97561206015849E-4	0.058
18	12817147	G	A	18	12817148	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.5364181533214E-5	0.0
18	12817147	G	C	18	12817148	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.3958910195572E-5	0.0
18	12817147	G	T	18	12817148	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.27456659313109E-5	0.0
18	12817148	C	A	18	12817149	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.09150465968318E-5	0.004
18	12817148	C	G	18	12817149	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.44898987393642E-5	0.0
18	12817148	C	T	18	12817149	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.82338029418664E-5	0.018
18	12817149	A	C	18	12817150	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.613765147950256	0.522
18	12817149	A	G	18	12817150	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.882478444469914	0.62
18	12817149	A	T	18	12817150	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.826181619897443	0.62
18	12817150	C	A	18	12817151	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999159823785732	0.908
18	12817150	C	G	18	12817151	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.998521859781734	0.948
18	12817150	C	T	18	12817151	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.998164622411752	0.91
18	12817151	T	A	18	12817152	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.99731969535603	0.76
18	12817151	T	C	18	12817152	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.993706362948177	0.796
18	12817151	T	G	18	12817152	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.936956950743626	0.6
18	12817152	T	A	18	12817153	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.994522781681541	0.786
18	12817152	T	C	18	12817153	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0342262765859192	0.238
18	12817152	T	G	18	12817153	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.998350715968089	0.912
18	12817153	A	C	18	12817154	y	y	splicing	PTPN2(NM_080422:exon7:c.705+2T>G;NM_080423:exon7:c.705+2T>G;NM_001207013:exon8:c.774+2T>G;NM_002828:exon7:c.705+2T>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.705+2T>G;ENST00000591115:exon8:c.774+2T>G;ENST00000353319:exon7:c.705+2T>G;ENST00000309660:exon7:c.705+2T>G;ENST00000591497:exon7:c.618+2T>G;ENST00000591305:exon5:c.479+2T>G;ENST00000592776:exon7:c.605+2T>G)	.	.	0.999989917668626	0.928
18	12817153	A	G	18	12817154	y	y	splicing	PTPN2(NM_080422:exon7:c.705+2T>C;NM_080423:exon7:c.705+2T>C;NM_001207013:exon8:c.774+2T>C;NM_002828:exon7:c.705+2T>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.705+2T>C;ENST00000591115:exon8:c.774+2T>C;ENST00000353319:exon7:c.705+2T>C;ENST00000309660:exon7:c.705+2T>C;ENST00000591497:exon7:c.618+2T>C;ENST00000591305:exon5:c.479+2T>C;ENST00000592776:exon7:c.605+2T>C)	.	.	0.994485838132979	0.64
18	12817153	A	T	18	12817154	y	y	splicing	PTPN2(NM_080422:exon7:c.705+2T>A;NM_080423:exon7:c.705+2T>A;NM_001207013:exon8:c.774+2T>A;NM_002828:exon7:c.705+2T>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.705+2T>A;ENST00000591115:exon8:c.774+2T>A;ENST00000353319:exon7:c.705+2T>A;ENST00000309660:exon7:c.705+2T>A;ENST00000591497:exon7:c.618+2T>A;ENST00000591305:exon5:c.479+2T>A;ENST00000592776:exon7:c.605+2T>A)	.	.	0.999989917668626	0.928
18	12817154	C	A	18	12817155	y	y	splicing	PTPN2(NM_080422:exon7:c.705+1G>T;NM_080423:exon7:c.705+1G>T;NM_001207013:exon8:c.774+1G>T;NM_002828:exon7:c.705+1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.705+1G>T;ENST00000591115:exon8:c.774+1G>T;ENST00000353319:exon7:c.705+1G>T;ENST00000309660:exon7:c.705+1G>T;ENST00000591497:exon7:c.618+1G>T;ENST00000591305:exon5:c.479+1G>T;ENST00000592776:exon7:c.605+1G>T)	.	.	0.999986675681007	0.94
18	12817154	C	G	18	12817155	y	y	splicing	PTPN2(NM_080422:exon7:c.705+1G>C;NM_080423:exon7:c.705+1G>C;NM_001207013:exon8:c.774+1G>C;NM_002828:exon7:c.705+1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.705+1G>C;ENST00000591115:exon8:c.774+1G>C;ENST00000353319:exon7:c.705+1G>C;ENST00000309660:exon7:c.705+1G>C;ENST00000591497:exon7:c.618+1G>C;ENST00000591305:exon5:c.479+1G>C;ENST00000592776:exon7:c.605+1G>C)	.	.	0.999986675681007	0.94
18	12817154	C	T	18	12817155	y	y	splicing	PTPN2(NM_080422:exon7:c.705+1G>A;NM_080423:exon7:c.705+1G>A;NM_001207013:exon8:c.774+1G>A;NM_002828:exon7:c.705+1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.705+1G>A;ENST00000591115:exon8:c.774+1G>A;ENST00000353319:exon7:c.705+1G>A;ENST00000309660:exon7:c.705+1G>A;ENST00000591497:exon7:c.618+1G>A;ENST00000591305:exon5:c.479+1G>A;ENST00000592776:exon7:c.605+1G>A)	.	.	0.999986675681007	0.94
18	12817155	C	A	18	12817156	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.G705T:p.L235F;PTPN2:NM_001207013:exon7:c.G774T:p.L258F;PTPN2:NM_080422:exon6:c.G705T:p.L235F;PTPN2:NM_002828:exon6:c.G705T:p.L235F;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.G774T:p.L258F;ENSG00000175354:ENST00000327283:exon6:c.G705T:p.L235F;ENSG00000175354:ENST00000591497:exon6:c.G618T:p.L206F;ENSG00000175354:ENST00000309660:exon6:c.G705T:p.L235F;ENSG00000175354:ENST00000353319:exon6:c.G705T:p.L235F;	0.999797791801181	0.904
18	12817155	C	G	18	12817156	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.G705C:p.L235F;PTPN2:NM_001207013:exon7:c.G774C:p.L258F;PTPN2:NM_080422:exon6:c.G705C:p.L235F;PTPN2:NM_002828:exon6:c.G705C:p.L235F;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.G774C:p.L258F;ENSG00000175354:ENST00000327283:exon6:c.G705C:p.L235F;ENSG00000175354:ENST00000591497:exon6:c.G618C:p.L206F;ENSG00000175354:ENST00000309660:exon6:c.G705C:p.L235F;ENSG00000175354:ENST00000353319:exon6:c.G705C:p.L235F;	0.99987432278703	0.93
18	12817155	C	T	18	12817156	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon6:c.G705A:p.L235L;PTPN2:NM_001207013:exon7:c.G774A:p.L258L;PTPN2:NM_080422:exon6:c.G705A:p.L235L;PTPN2:NM_002828:exon6:c.G705A:p.L235L;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.G774A:p.L258L;ENSG00000175354:ENST00000327283:exon6:c.G705A:p.L235L;ENSG00000175354:ENST00000591497:exon6:c.G618A:p.L206L;ENSG00000175354:ENST00000309660:exon6:c.G705A:p.L235L;ENSG00000175354:ENST00000353319:exon6:c.G705A:p.L235L;	0.998279437269516	0.906
18	12817156	A	C	18	12817157	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.T704G:p.L235W;PTPN2:NM_001207013:exon7:c.T773G:p.L258W;PTPN2:NM_080422:exon6:c.T704G:p.L235W;PTPN2:NM_002828:exon6:c.T704G:p.L235W;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.T773G:p.L258W;ENSG00000175354:ENST00000327283:exon6:c.T704G:p.L235W;ENSG00000175354:ENST00000591497:exon6:c.T617G:p.L206W;ENSG00000175354:ENST00000309660:exon6:c.T704G:p.L235W;ENSG00000175354:ENST00000353319:exon6:c.T704G:p.L235W;	0.551164876355975	0.79
18	12817156	A	G	18	12817157	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.T704C:p.L235S;PTPN2:NM_001207013:exon7:c.T773C:p.L258S;PTPN2:NM_080422:exon6:c.T704C:p.L235S;PTPN2:NM_002828:exon6:c.T704C:p.L235S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.T773C:p.L258S;ENSG00000175354:ENST00000327283:exon6:c.T704C:p.L235S;ENSG00000175354:ENST00000591497:exon6:c.T617C:p.L206S;ENSG00000175354:ENST00000309660:exon6:c.T704C:p.L235S;ENSG00000175354:ENST00000353319:exon6:c.T704C:p.L235S;	0.832560125732787	0.824
18	12817156	A	T	18	12817157	y	y	exonic	PTPN2	stopgain SNV	PTPN2:NM_080423:exon6:c.T704A:p.L235X;PTPN2:NM_001207013:exon7:c.T773A:p.L258X;PTPN2:NM_080422:exon6:c.T704A:p.L235X;PTPN2:NM_002828:exon6:c.T704A:p.L235X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000591115:exon7:c.T773A:p.L258X;ENSG00000175354:ENST00000327283:exon6:c.T704A:p.L235X;ENSG00000175354:ENST00000591497:exon6:c.T617A:p.L206X;ENSG00000175354:ENST00000309660:exon6:c.T704A:p.L235X;ENSG00000175354:ENST00000353319:exon6:c.T704A:p.L235X;	0.63118656250276	0.676
18	12817157	A	C	18	12817158	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.T703G:p.L235V;PTPN2:NM_001207013:exon7:c.T772G:p.L258V;PTPN2:NM_080422:exon6:c.T703G:p.L235V;PTPN2:NM_002828:exon6:c.T703G:p.L235V;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.T772G:p.L258V;ENSG00000175354:ENST00000327283:exon6:c.T703G:p.L235V;ENSG00000175354:ENST00000591497:exon6:c.T616G:p.L206V;ENSG00000175354:ENST00000309660:exon6:c.T703G:p.L235V;ENSG00000175354:ENST00000353319:exon6:c.T703G:p.L235V;	5.69834980532658E-5	0.07
18	12817157	A	G	18	12817158	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon6:c.T703C:p.L235L;PTPN2:NM_001207013:exon7:c.T772C:p.L258L;PTPN2:NM_080422:exon6:c.T703C:p.L235L;PTPN2:NM_002828:exon6:c.T703C:p.L235L;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.T772C:p.L258L;ENSG00000175354:ENST00000327283:exon6:c.T703C:p.L235L;ENSG00000175354:ENST00000591497:exon6:c.T616C:p.L206L;ENSG00000175354:ENST00000309660:exon6:c.T703C:p.L235L;ENSG00000175354:ENST00000353319:exon6:c.T703C:p.L235L;	1.61659717585933E-5	0.014
18	12817157	A	T	18	12817158	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.T703A:p.L235M;PTPN2:NM_001207013:exon7:c.T772A:p.L258M;PTPN2:NM_080422:exon6:c.T703A:p.L235M;PTPN2:NM_002828:exon6:c.T703A:p.L235M;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.T772A:p.L258M;ENSG00000175354:ENST00000327283:exon6:c.T703A:p.L235M;ENSG00000175354:ENST00000591497:exon6:c.T616A:p.L206M;ENSG00000175354:ENST00000309660:exon6:c.T703A:p.L235M;ENSG00000175354:ENST00000353319:exon6:c.T703A:p.L235M;	1.80406264367205E-5	0.052
18	12817363	C	A	18	12817364	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.G497T:p.S166I;PTPN2:NM_001207013:exon7:c.G566T:p.S189I;PTPN2:NM_080422:exon6:c.G497T:p.S166I;PTPN2:NM_002828:exon6:c.G497T:p.S166I;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.G566T:p.S189I;ENSG00000175354:ENST00000327283:exon6:c.G497T:p.S166I;ENSG00000175354:ENST00000591497:exon6:c.G410T:p.S137I;ENSG00000175354:ENST00000309660:exon6:c.G497T:p.S166I;ENSG00000175354:ENST00000353319:exon6:c.G497T:p.S166I;	0.00168581188666878	0.082
18	12817363	C	G	18	12817364	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.G497C:p.S166T;PTPN2:NM_001207013:exon7:c.G566C:p.S189T;PTPN2:NM_080422:exon6:c.G497C:p.S166T;PTPN2:NM_002828:exon6:c.G497C:p.S166T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.G566C:p.S189T;ENSG00000175354:ENST00000327283:exon6:c.G497C:p.S166T;ENSG00000175354:ENST00000591497:exon6:c.G410C:p.S137T;ENSG00000175354:ENST00000309660:exon6:c.G497C:p.S166T;ENSG00000175354:ENST00000353319:exon6:c.G497C:p.S166T;	1.62339713905872E-5	0.012
18	12817363	C	T	18	12817364	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.G497A:p.S166N;PTPN2:NM_001207013:exon7:c.G566A:p.S189N;PTPN2:NM_080422:exon6:c.G497A:p.S166N;PTPN2:NM_002828:exon6:c.G497A:p.S166N;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.G566A:p.S189N;ENSG00000175354:ENST00000327283:exon6:c.G497A:p.S166N;ENSG00000175354:ENST00000591497:exon6:c.G410A:p.S137N;ENSG00000175354:ENST00000309660:exon6:c.G497A:p.S166N;ENSG00000175354:ENST00000353319:exon6:c.G497A:p.S166N;	2.38212130292245E-4	0.002
18	12817364	T	A	18	12817365	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.A496T:p.S166C;PTPN2:NM_001207013:exon7:c.A565T:p.S189C;PTPN2:NM_080422:exon6:c.A496T:p.S166C;PTPN2:NM_002828:exon6:c.A496T:p.S166C;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.A565T:p.S189C;ENSG00000175354:ENST00000327283:exon6:c.A496T:p.S166C;ENSG00000175354:ENST00000591497:exon6:c.A409T:p.S137C;ENSG00000175354:ENST00000309660:exon6:c.A496T:p.S166C;ENSG00000175354:ENST00000353319:exon6:c.A496T:p.S166C;	0.117327121976987	0.42
18	12817364	T	C	18	12817365	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.A496G:p.S166G;PTPN2:NM_001207013:exon7:c.A565G:p.S189G;PTPN2:NM_080422:exon6:c.A496G:p.S166G;PTPN2:NM_002828:exon6:c.A496G:p.S166G;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.A565G:p.S189G;ENSG00000175354:ENST00000327283:exon6:c.A496G:p.S166G;ENSG00000175354:ENST00000591497:exon6:c.A409G:p.S137G;ENSG00000175354:ENST00000309660:exon6:c.A496G:p.S166G;ENSG00000175354:ENST00000353319:exon6:c.A496G:p.S166G;	0.417109706294363	0.638
18	12817364	T	G	18	12817365	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon6:c.A496C:p.S166R;PTPN2:NM_001207013:exon7:c.A565C:p.S189R;PTPN2:NM_080422:exon6:c.A496C:p.S166R;PTPN2:NM_002828:exon6:c.A496C:p.S166R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon7:c.A565C:p.S189R;ENSG00000175354:ENST00000327283:exon6:c.A496C:p.S166R;ENSG00000175354:ENST00000591497:exon6:c.A409C:p.S137R;ENSG00000175354:ENST00000309660:exon6:c.A496C:p.S166R;ENSG00000175354:ENST00000353319:exon6:c.A496C:p.S166R;	0.126945454627836	0.554
18	12817365	C	A	18	12817366	y	y	splicing	PTPN2(NM_080422:exon7:c.496-1G>T;NM_080423:exon7:c.496-1G>T;NM_001207013:exon8:c.565-1G>T;NM_002828:exon7:c.496-1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.496-1G>T;ENST00000591115:exon8:c.565-1G>T;ENST00000353319:exon7:c.496-1G>T;ENST00000309660:exon7:c.496-1G>T;ENST00000591497:exon7:c.409-1G>T;ENST00000591305:exon5:c.270-1G>T;ENST00000589216:exon6:c.405-1G>T)	.	.	0.999986675681007	0.94
18	12817365	C	G	18	12817366	y	y	splicing	PTPN2(NM_080422:exon7:c.496-1G>C;NM_080423:exon7:c.496-1G>C;NM_001207013:exon8:c.565-1G>C;NM_002828:exon7:c.496-1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.496-1G>C;ENST00000591115:exon8:c.565-1G>C;ENST00000353319:exon7:c.496-1G>C;ENST00000309660:exon7:c.496-1G>C;ENST00000591497:exon7:c.409-1G>C;ENST00000591305:exon5:c.270-1G>C;ENST00000589216:exon6:c.405-1G>C)	.	.	0.999986675681007	0.94
18	12817365	C	T	18	12817366	y	y	splicing	PTPN2(NM_080422:exon7:c.496-1G>A;NM_080423:exon7:c.496-1G>A;NM_001207013:exon8:c.565-1G>A;NM_002828:exon7:c.496-1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.496-1G>A;ENST00000591115:exon8:c.565-1G>A;ENST00000353319:exon7:c.496-1G>A;ENST00000309660:exon7:c.496-1G>A;ENST00000591497:exon7:c.409-1G>A;ENST00000591305:exon5:c.270-1G>A;ENST00000589216:exon6:c.405-1G>A)	.	.	0.999986675681007	0.94
18	12817366	T	A	18	12817367	y	y	splicing	PTPN2(NM_080422:exon7:c.496-2A>T;NM_080423:exon7:c.496-2A>T;NM_001207013:exon8:c.565-2A>T;NM_002828:exon7:c.496-2A>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.496-2A>T;ENST00000591115:exon8:c.565-2A>T;ENST00000353319:exon7:c.496-2A>T;ENST00000309660:exon7:c.496-2A>T;ENST00000591497:exon7:c.409-2A>T;ENST00000591305:exon5:c.270-2A>T;ENST00000589216:exon6:c.405-2A>T)	.	.	0.999989917668626	0.928
18	12817366	T	C	18	12817367	y	y	splicing	PTPN2(NM_080422:exon7:c.496-2A>G;NM_080423:exon7:c.496-2A>G;NM_001207013:exon8:c.565-2A>G;NM_002828:exon7:c.496-2A>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.496-2A>G;ENST00000591115:exon8:c.565-2A>G;ENST00000353319:exon7:c.496-2A>G;ENST00000309660:exon7:c.496-2A>G;ENST00000591497:exon7:c.409-2A>G;ENST00000591305:exon5:c.270-2A>G;ENST00000589216:exon6:c.405-2A>G)	.	.	0.999989917668626	0.928
18	12817366	T	G	18	12817367	y	y	splicing	PTPN2(NM_080422:exon7:c.496-2A>C;NM_080423:exon7:c.496-2A>C;NM_001207013:exon8:c.565-2A>C;NM_002828:exon7:c.496-2A>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon7:c.496-2A>C;ENST00000591115:exon8:c.565-2A>C;ENST00000353319:exon7:c.496-2A>C;ENST00000309660:exon7:c.496-2A>C;ENST00000591497:exon7:c.409-2A>C;ENST00000591305:exon5:c.270-2A>C;ENST00000589216:exon6:c.405-2A>C)	.	.	0.999989917668626	0.928
18	12817367	A	C	18	12817368	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.998354045859895	0.736
18	12817367	A	G	18	12817368	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.11859644039344E-5	0.004
18	12817367	A	T	18	12817368	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0468282841623172	0.27
18	12817368	A	C	18	12817369	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.82235950515105E-4	0.012
18	12817368	A	G	18	12817369	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.77284009399385E-5	0.002
18	12817368	A	T	18	12817369	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.45241493834548E-4	0.006
18	12817369	A	C	18	12817370	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.831120604672839	0.54
18	12817369	A	G	18	12817370	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.113883003125799	0.206
18	12817369	A	T	18	12817370	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.829917250736603	0.576
18	12817370	A	C	18	12817371	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.189032216455004	0.28
18	12817370	A	G	18	12817371	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00559844161104924	0.094
18	12817370	A	T	18	12817371	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.241714539223072	0.284
18	12817371	A	C	18	12817372	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00861030871043152	0.124
18	12817371	A	G	18	12817372	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.97646133382403E-4	0.0
18	12817371	A	T	18	12817372	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0118854499232685	0.142
18	12817372	G	A	18	12817373	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00196967274017111	0.034
18	12817372	G	C	18	12817373	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999887685888385	0.952
18	12817372	G	T	18	12817373	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0327546452720193	0.284
18	12817373	T	A	18	12817374	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.7254141000794E-6	0.02
18	12817373	T	C	18	12817374	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.28166419431736E-5	0.004
18	12817373	T	G	18	12817374	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.46090452732472E-6	0.042
18	12817374	G	A	18	12817375	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.59536897497771E-5	0.0
18	12817374	G	C	18	12817375	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.45849854014704E-4	0.04
18	12817374	G	T	18	12817375	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.45792235230325E-4	0.03
18	12817375	A	C	18	12817376	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.875381412274736	0.652
18	12817375	A	G	18	12817376	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.525069507775085	0.488
18	12817375	A	T	18	12817376	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.913537862750497	0.678
18	12817376	A	C	18	12817377	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00921754111717879	0.16
18	12817376	A	G	18	12817377	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00175215297541961	0.038
18	12817376	A	T	18	12817377	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0168497843463604	0.272
18	12819205	G	A	18	12819206	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.46004206284423E-5	0.0
18	12819205	G	C	18	12819206	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.46004206284423E-5	0.0
18	12819205	G	T	18	12819206	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.46004206284423E-5	0.0
18	12819206	T	A	18	12819207	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.97728621093963E-5	0.004
18	12819206	T	C	18	12819207	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.2886448328189E-5	0.004
18	12819206	T	G	18	12819207	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.2886448328189E-5	0.004
18	12819207	A	C	18	12819208	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.08291490468438E-5	0.008
18	12819207	A	G	18	12819208	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.08291490468438E-5	0.008
18	12819207	A	T	18	12819208	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.80109675654916E-5	0.0
18	12819208	C	A	18	12819209	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.25524929795369E-5	0.0
18	12819208	C	G	18	12819209	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.46004206284423E-5	0.0
18	12819208	C	T	18	12819209	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.25524929795369E-5	0.0
18	12819209	A	C	18	12819210	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.08802802279601E-5	0.002
18	12819209	A	G	18	12819210	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.08802802279601E-5	0.0
18	12819209	A	T	18	12819210	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.49702646665041E-5	0.004
18	12819210	T	A	18	12819211	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.39457982047225E-5	0.004
18	12819210	T	C	18	12819211	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.39457982047225E-5	0.0
18	12819210	T	G	18	12819211	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.39457982047225E-5	0.0
18	12819211	A	C	18	12819212	y	y	splicing	PTPN2(NM_001207013:exon7:c.564+2T>G)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.564+2T>G)	.	.	5.32341439655945E-5	0.002
18	12819211	A	G	18	12819212	y	y	splicing	PTPN2(NM_001207013:exon7:c.564+2T>C)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.564+2T>C)	.	.	5.32341439655945E-5	0.002
18	12819211	A	T	18	12819212	y	y	splicing	PTPN2(NM_001207013:exon7:c.564+2T>A)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.564+2T>A)	.	.	5.32341439655945E-5	0.002
18	12819212	C	A	18	12819213	y	y	splicing	PTPN2(NM_001207013:exon7:c.564+1G>T)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.564+1G>T)	.	.	7.52881759733747E-5	0.0
18	12819212	C	G	18	12819213	y	y	splicing	PTPN2(NM_001207013:exon7:c.564+1G>C)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.564+1G>C)	.	.	7.52881759733747E-5	0.0
18	12819212	C	T	18	12819213	y	y	splicing	PTPN2(NM_001207013:exon7:c.564+1G>A)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.564+1G>A)	.	.	7.52881759733747E-5	0.0
18	12819213	T	A	18	12819214	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A564T:p.K188N;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A564T:p.K188N;	4.19523722086209E-5	0.0
18	12819213	T	C	18	12819214	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_001207013:exon6:c.A564G:p.K188K;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A564G:p.K188K;	4.19523722086209E-5	0.0
18	12819213	T	G	18	12819214	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A564C:p.K188N;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A564C:p.K188N;	4.19523722086209E-5	0.0
18	12819214	T	A	18	12819215	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A563T:p.K188I;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A563T:p.K188I;	1.3957358345244E-4	0.03
18	12819214	T	C	18	12819215	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A563G:p.K188R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A563G:p.K188R;	1.9920955617261E-4	0.036
18	12819214	T	G	18	12819215	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A563C:p.K188T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A563C:p.K188T;	1.9920955617261E-4	0.02
18	12819215	T	A	18	12819216	y	y	exonic	PTPN2	stopgain SNV	PTPN2:NM_001207013:exon6:c.A562T:p.K188X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000591115:exon6:c.A562T:p.K188X;	1.07014656885049E-4	0.004
18	12819215	T	C	18	12819216	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A562G:p.K188E;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A562G:p.K188E;	1.50781983575263E-4	0.008
18	12819215	T	G	18	12819216	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A562C:p.K188Q;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A562C:p.K188Q;	1.50781983575263E-4	0.008
18	12819280	T	A	18	12819281	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A497T:p.Y166F;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A497T:p.Y166F;	7.68433810549259E-5	0.0
18	12819280	T	C	18	12819281	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A497G:p.Y166C;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A497G:p.Y166C;	7.68433810549259E-5	0.0
18	12819280	T	G	18	12819281	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.A497C:p.Y166S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.A497C:p.Y166S;	7.68433810549259E-5	0.0
18	12819281	A	C	18	12819282	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.T496G:p.Y166D;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.T496G:p.Y166D;	7.68433810549259E-5	0.0
18	12819281	A	G	18	12819282	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.T496C:p.Y166H;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.T496C:p.Y166H;	7.68433810549259E-5	0.0
18	12819281	A	T	18	12819282	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_001207013:exon6:c.T496A:p.Y166N;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon6:c.T496A:p.Y166N;	7.68433810549259E-5	0.0
18	12819282	C	A	18	12819283	y	y	splicing	PTPN2(NM_001207013:exon7:c.496-1G>T)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.496-1G>T)	.	.	8.71037690926497E-5	0.0
18	12819282	C	G	18	12819283	y	y	splicing	PTPN2(NM_001207013:exon7:c.496-1G>C)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.496-1G>C)	.	.	2.01163773767764E-5	0.0
18	12819282	C	T	18	12819283	y	y	splicing	PTPN2(NM_001207013:exon7:c.496-1G>A)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.496-1G>A)	.	.	8.71037690926497E-5	0.0
18	12819283	T	A	18	12819284	y	y	splicing	PTPN2(NM_001207013:exon7:c.496-2A>T)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.496-2A>T)	.	.	2.6128894829304E-5	0.004
18	12819283	T	C	18	12819284	y	y	splicing	PTPN2(NM_001207013:exon7:c.496-2A>G)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.496-2A>G)	.	.	2.6128894829304E-5	0.004
18	12819283	T	G	18	12819284	y	y	splicing	PTPN2(NM_001207013:exon7:c.496-2A>C)	.	.	splicing	ENSG00000175354(ENST00000591115:exon7:c.496-2A>C)	.	.	2.6128894829304E-5	0.004
18	12819284	A	C	18	12819285	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.46004206284423E-5	0.002
18	12819284	A	G	18	12819285	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.46004206284423E-5	0.002
18	12819284	A	T	18	12819285	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.25524929795369E-5	0.002
18	12819285	A	C	18	12819286	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.81984393052081E-4	0.008
18	12819285	A	G	18	12819286	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.81984393052081E-4	0.008
18	12819285	A	T	18	12819286	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.81984393052081E-4	0.008
18	12819286	A	C	18	12819287	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.67272766448078E-5	0.0
18	12819286	A	G	18	12819287	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.67272766448078E-5	0.0
18	12819286	A	T	18	12819287	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.67535614375061E-5	0.0
18	12819287	A	C	18	12819288	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.92542250322271E-5	0.042
18	12819287	A	G	18	12819288	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.92542250322271E-5	0.042
18	12819287	A	T	18	12819288	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.92542250322271E-5	0.04
18	12819288	G	A	18	12819289	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.15849948155271E-5	0.0
18	12819288	G	C	18	12819289	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.15849948155271E-5	0.0
18	12819288	G	T	18	12819289	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.15849948155271E-5	0.0
18	12819289	C	A	18	12819290	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.22319008290309E-5	0.0
18	12819289	C	G	18	12819290	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.22319008290309E-5	0.0
18	12819289	C	T	18	12819290	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.22319008290309E-5	0.0
18	12819290	A	C	18	12819291	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.81984393052081E-4	0.008
18	12819290	A	G	18	12819291	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.81984393052081E-4	0.008
18	12819290	A	T	18	12819291	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.81984393052081E-4	0.008
18	12819291	A	C	18	12819292	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.68219155180855E-5	0.002
18	12819291	A	G	18	12819292	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.68219155180855E-5	0.002
18	12819291	A	T	18	12819292	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.14301101535901E-5	0.002
18	12819292	T	A	18	12819293	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.89925739660516E-5	0.006
18	12819292	T	C	18	12819293	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.89925739660516E-5	0.004
18	12819292	T	G	18	12819293	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.89925739660516E-5	0.004
18	12819293	A	C	18	12819294	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.74891647094722E-5	0.006
18	12819293	A	G	18	12819294	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.74891647094722E-5	0.006
18	12819293	A	T	18	12819294	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.74891647094722E-5	0.008
18	12825801	G	A	18	12825802	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.3583408891811E-5	0.006
18	12825801	G	C	18	12825802	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.74906367512357E-5	0.006
18	12825801	G	T	18	12825802	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.43852249263655E-4	0.006
18	12825802	G	A	18	12825803	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0231804647513423	0.154
18	12825802	G	C	18	12825803	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0065082949488003	0.046
18	12825802	G	T	18	12825803	y	n	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0065082949488003	0.05
18	12825803	T	A	18	12825804	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A204T:p.R68S;	8.48015036904331E-4	0.056
18	12825803	T	C	18	12825804	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A204G:p.R68R;	3.78013924090839E-4	0.004
18	12825803	T	G	18	12825804	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A204C:p.R68S;	0.00190722019173098	0.048
18	12825804	C	A	18	12825805	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G203T:p.R68I;	0.999968833967818	0.978
18	12825804	C	G	18	12825805	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G203C:p.R68T;	0.999902546244459	0.908
18	12825804	C	T	18	12825805	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G203A:p.R68K;	0.999967018685523	0.992
18	12825805	T	A	18	12825806	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000592059:exon5:c.A202T:p.R68X;	0.986561404964071	0.882
18	12825805	T	C	18	12825806	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A202G:p.R68G;	0.999038152195087	0.962
18	12825805	T	G	18	12825806	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A202C:p.R68R;	0.99654232945372	0.874
18	12825806	T	A	18	12825807	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A201T:p.V67V;	0.999856607425957	0.918
18	12825806	T	C	18	12825807	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A201G:p.V67V;	0.982999530189066	0.668
18	12825806	T	G	18	12825807	y	n	intronic	PTPN2	.	.	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A201C:p.V67V;	0.999780720171207	0.918
18	12825807	A	C	18	12825808	y	n	splicing	PTPN2(NM_080422:exon6:c.495+2T>G;NM_080423:exon6:c.495+2T>G;NM_001207013:exon6:c.495+2T>G;NM_002828:exon6:c.495+2T>G)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon6:c.495+2T>G;ENST00000591115:exon6:c.495+2T>G;ENST00000353319:exon6:c.495+2T>G;ENST00000309660:exon6:c.495+2T>G;ENST00000591497:exon6:c.408+2T>G;ENST00000592776:exon6:c.495+2T>G;ENST00000589216:exon5:c.404+2T>G)	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T200G:p.V67G;	0.999989917668626	0.928
18	12825807	A	G	18	12825808	y	n	splicing	PTPN2(NM_080422:exon6:c.495+2T>C;NM_080423:exon6:c.495+2T>C;NM_001207013:exon6:c.495+2T>C;NM_002828:exon6:c.495+2T>C)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon6:c.495+2T>C;ENST00000591115:exon6:c.495+2T>C;ENST00000353319:exon6:c.495+2T>C;ENST00000309660:exon6:c.495+2T>C;ENST00000591497:exon6:c.408+2T>C;ENST00000592776:exon6:c.495+2T>C;ENST00000589216:exon5:c.404+2T>C)	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T200C:p.V67A;	0.992709744700949	0.602
18	12825807	A	T	18	12825808	y	n	splicing	PTPN2(NM_080422:exon6:c.495+2T>A;NM_080423:exon6:c.495+2T>A;NM_001207013:exon6:c.495+2T>A;NM_002828:exon6:c.495+2T>A)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon6:c.495+2T>A;ENST00000591115:exon6:c.495+2T>A;ENST00000353319:exon6:c.495+2T>A;ENST00000309660:exon6:c.495+2T>A;ENST00000591497:exon6:c.408+2T>A;ENST00000592776:exon6:c.495+2T>A;ENST00000589216:exon5:c.404+2T>A)	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T200A:p.V67E;	0.999989917668626	0.928
18	12825808	C	A	18	12825809	y	n	splicing	PTPN2(NM_080422:exon6:c.495+1G>T;NM_080423:exon6:c.495+1G>T;NM_001207013:exon6:c.495+1G>T;NM_002828:exon6:c.495+1G>T)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon6:c.495+1G>T;ENST00000591115:exon6:c.495+1G>T;ENST00000353319:exon6:c.495+1G>T;ENST00000309660:exon6:c.495+1G>T;ENST00000591497:exon6:c.408+1G>T;ENST00000592776:exon6:c.495+1G>T;ENST00000589216:exon5:c.404+1G>T)	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G199T:p.V67L;	0.999986675681007	0.93
18	12825808	C	G	18	12825809	y	n	splicing	PTPN2(NM_080422:exon6:c.495+1G>C;NM_080423:exon6:c.495+1G>C;NM_001207013:exon6:c.495+1G>C;NM_002828:exon6:c.495+1G>C)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon6:c.495+1G>C;ENST00000591115:exon6:c.495+1G>C;ENST00000353319:exon6:c.495+1G>C;ENST00000309660:exon6:c.495+1G>C;ENST00000591497:exon6:c.408+1G>C;ENST00000592776:exon6:c.495+1G>C;ENST00000589216:exon5:c.404+1G>C)	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G199C:p.V67L;	0.999986675681007	0.93
18	12825808	C	T	18	12825809	y	n	splicing	PTPN2(NM_080422:exon6:c.495+1G>A;NM_080423:exon6:c.495+1G>A;NM_001207013:exon6:c.495+1G>A;NM_002828:exon6:c.495+1G>A)	.	.	exonic;splicing	ENSG00000175354;ENSG00000175354(ENST00000327283:exon6:c.495+1G>A;ENST00000591115:exon6:c.495+1G>A;ENST00000353319:exon6:c.495+1G>A;ENST00000309660:exon6:c.495+1G>A;ENST00000591497:exon6:c.408+1G>A;ENST00000592776:exon6:c.495+1G>A;ENST00000589216:exon5:c.404+1G>A)	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G199A:p.V67I;	0.999986675681007	0.93
18	12825809	A	C	18	12825810	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.T495G:p.N165K;PTPN2:NM_001207013:exon5:c.T495G:p.N165K;PTPN2:NM_080422:exon5:c.T495G:p.N165K;PTPN2:NM_002828:exon5:c.T495G:p.N165K;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T198G:p.N66K;ENSG00000175354:ENST00000591115:exon5:c.T495G:p.N165K;ENSG00000175354:ENST00000327283:exon5:c.T495G:p.N165K;ENSG00000175354:ENST00000591497:exon5:c.T408G:p.N136K;ENSG00000175354:ENST00000309660:exon5:c.T495G:p.N165K;ENSG00000175354:ENST00000353319:exon5:c.T495G:p.N165K;ENSG00000175354:ENST00000592776:exon5:c.T495G:p.N165K;	5.5682281849153E-4	0.336
18	12825809	A	G	18	12825810	y	n	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon5:c.T495C:p.N165N;PTPN2:NM_001207013:exon5:c.T495C:p.N165N;PTPN2:NM_080422:exon5:c.T495C:p.N165N;PTPN2:NM_002828:exon5:c.T495C:p.N165N;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T198C:p.N66N;ENSG00000175354:ENST00000591115:exon5:c.T495C:p.N165N;ENSG00000175354:ENST00000327283:exon5:c.T495C:p.N165N;ENSG00000175354:ENST00000591497:exon5:c.T408C:p.N136N;ENSG00000175354:ENST00000309660:exon5:c.T495C:p.N165N;ENSG00000175354:ENST00000353319:exon5:c.T495C:p.N165N;ENSG00000175354:ENST00000592776:exon5:c.T495C:p.N165N;	0.0127161231033337	0.298
18	12825809	A	T	18	12825810	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.T495A:p.N165K;PTPN2:NM_001207013:exon5:c.T495A:p.N165K;PTPN2:NM_080422:exon5:c.T495A:p.N165K;PTPN2:NM_002828:exon5:c.T495A:p.N165K;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T198A:p.N66K;ENSG00000175354:ENST00000591115:exon5:c.T495A:p.N165K;ENSG00000175354:ENST00000327283:exon5:c.T495A:p.N165K;ENSG00000175354:ENST00000591497:exon5:c.T408A:p.N136K;ENSG00000175354:ENST00000309660:exon5:c.T495A:p.N165K;ENSG00000175354:ENST00000353319:exon5:c.T495A:p.N165K;ENSG00000175354:ENST00000592776:exon5:c.T495A:p.N165K;	2.67670861700131E-4	0.004
18	12825810	T	A	18	12825811	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.A494T:p.N165I;PTPN2:NM_001207013:exon5:c.A494T:p.N165I;PTPN2:NM_080422:exon5:c.A494T:p.N165I;PTPN2:NM_002828:exon5:c.A494T:p.N165I;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A197T:p.N66I;ENSG00000175354:ENST00000591115:exon5:c.A494T:p.N165I;ENSG00000175354:ENST00000327283:exon5:c.A494T:p.N165I;ENSG00000175354:ENST00000591497:exon5:c.A407T:p.N136I;ENSG00000175354:ENST00000309660:exon5:c.A494T:p.N165I;ENSG00000175354:ENST00000353319:exon5:c.A494T:p.N165I;ENSG00000175354:ENST00000592776:exon5:c.A494T:p.N165I;	0.687792245900741	0.63
18	12825810	T	C	18	12825811	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.A494G:p.N165S;PTPN2:NM_001207013:exon5:c.A494G:p.N165S;PTPN2:NM_080422:exon5:c.A494G:p.N165S;PTPN2:NM_002828:exon5:c.A494G:p.N165S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A197G:p.N66S;ENSG00000175354:ENST00000591115:exon5:c.A494G:p.N165S;ENSG00000175354:ENST00000327283:exon5:c.A494G:p.N165S;ENSG00000175354:ENST00000591497:exon5:c.A407G:p.N136S;ENSG00000175354:ENST00000309660:exon5:c.A494G:p.N165S;ENSG00000175354:ENST00000353319:exon5:c.A494G:p.N165S;ENSG00000175354:ENST00000592776:exon5:c.A494G:p.N165S;	0.0216773240613948	0.374
18	12825810	T	G	18	12825811	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.A494C:p.N165T;PTPN2:NM_001207013:exon5:c.A494C:p.N165T;PTPN2:NM_080422:exon5:c.A494C:p.N165T;PTPN2:NM_002828:exon5:c.A494C:p.N165T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A197C:p.N66T;ENSG00000175354:ENST00000591115:exon5:c.A494C:p.N165T;ENSG00000175354:ENST00000327283:exon5:c.A494C:p.N165T;ENSG00000175354:ENST00000591497:exon5:c.A407C:p.N136T;ENSG00000175354:ENST00000309660:exon5:c.A494C:p.N165T;ENSG00000175354:ENST00000353319:exon5:c.A494C:p.N165T;ENSG00000175354:ENST00000592776:exon5:c.A494C:p.N165T;	0.125518300641446	0.628
18	12825811	T	A	18	12825812	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.A493T:p.N165Y;PTPN2:NM_001207013:exon5:c.A493T:p.N165Y;PTPN2:NM_080422:exon5:c.A493T:p.N165Y;PTPN2:NM_002828:exon5:c.A493T:p.N165Y;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A196T:p.N66Y;ENSG00000175354:ENST00000591115:exon5:c.A493T:p.N165Y;ENSG00000175354:ENST00000327283:exon5:c.A493T:p.N165Y;ENSG00000175354:ENST00000591497:exon5:c.A406T:p.N136Y;ENSG00000175354:ENST00000309660:exon5:c.A493T:p.N165Y;ENSG00000175354:ENST00000353319:exon5:c.A493T:p.N165Y;ENSG00000175354:ENST00000592776:exon5:c.A493T:p.N165Y;	0.914723364097147	0.64
18	12825811	T	C	18	12825812	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.A493G:p.N165D;PTPN2:NM_001207013:exon5:c.A493G:p.N165D;PTPN2:NM_080422:exon5:c.A493G:p.N165D;PTPN2:NM_002828:exon5:c.A493G:p.N165D;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A196G:p.N66D;ENSG00000175354:ENST00000591115:exon5:c.A493G:p.N165D;ENSG00000175354:ENST00000327283:exon5:c.A493G:p.N165D;ENSG00000175354:ENST00000591497:exon5:c.A406G:p.N136D;ENSG00000175354:ENST00000309660:exon5:c.A493G:p.N165D;ENSG00000175354:ENST00000353319:exon5:c.A493G:p.N165D;ENSG00000175354:ENST00000592776:exon5:c.A493G:p.N165D;	0.00379653264147119	0.064
18	12825811	T	G	18	12825812	y	n	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.A493C:p.N165H;PTPN2:NM_001207013:exon5:c.A493C:p.N165H;PTPN2:NM_080422:exon5:c.A493C:p.N165H;PTPN2:NM_002828:exon5:c.A493C:p.N165H;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.A196C:p.N66H;ENSG00000175354:ENST00000591115:exon5:c.A493C:p.N165H;ENSG00000175354:ENST00000327283:exon5:c.A493C:p.N165H;ENSG00000175354:ENST00000591497:exon5:c.A406C:p.N136H;ENSG00000175354:ENST00000309660:exon5:c.A493C:p.N165H;ENSG00000175354:ENST00000353319:exon5:c.A493C:p.N165H;ENSG00000175354:ENST00000592776:exon5:c.A493C:p.N165H;	0.00850544108863783	0.058
18	12825942	A	C	18	12825943	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.T362G:p.V121G;PTPN2:NM_001207013:exon5:c.T362G:p.V121G;PTPN2:NM_080422:exon5:c.T362G:p.V121G;PTPN2:NM_002828:exon5:c.T362G:p.V121G;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T65G:p.V22G;ENSG00000175354:ENST00000591115:exon5:c.T362G:p.V121G;ENSG00000175354:ENST00000327283:exon5:c.T362G:p.V121G;ENSG00000175354:ENST00000591497:exon5:c.T275G:p.V92G;ENSG00000175354:ENST00000309660:exon5:c.T362G:p.V121G;ENSG00000175354:ENST00000353319:exon5:c.T362G:p.V121G;ENSG00000175354:ENST00000592776:exon5:c.T362G:p.V121G;	0.0709182769249638	0.296
18	12825942	A	G	18	12825943	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.T362C:p.V121A;PTPN2:NM_001207013:exon5:c.T362C:p.V121A;PTPN2:NM_080422:exon5:c.T362C:p.V121A;PTPN2:NM_002828:exon5:c.T362C:p.V121A;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T65C:p.V22A;ENSG00000175354:ENST00000591115:exon5:c.T362C:p.V121A;ENSG00000175354:ENST00000327283:exon5:c.T362C:p.V121A;ENSG00000175354:ENST00000591497:exon5:c.T275C:p.V92A;ENSG00000175354:ENST00000309660:exon5:c.T362C:p.V121A;ENSG00000175354:ENST00000353319:exon5:c.T362C:p.V121A;ENSG00000175354:ENST00000592776:exon5:c.T362C:p.V121A;	0.187288558478802	0.382
18	12825942	A	T	18	12825943	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.T362A:p.V121D;PTPN2:NM_001207013:exon5:c.T362A:p.V121D;PTPN2:NM_080422:exon5:c.T362A:p.V121D;PTPN2:NM_002828:exon5:c.T362A:p.V121D;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.T65A:p.V22D;ENSG00000175354:ENST00000591115:exon5:c.T362A:p.V121D;ENSG00000175354:ENST00000327283:exon5:c.T362A:p.V121D;ENSG00000175354:ENST00000591497:exon5:c.T275A:p.V92D;ENSG00000175354:ENST00000309660:exon5:c.T362A:p.V121D;ENSG00000175354:ENST00000353319:exon5:c.T362A:p.V121D;ENSG00000175354:ENST00000592776:exon5:c.T362A:p.V121D;	0.140906557883241	0.368
18	12825943	C	A	18	12825944	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.G361T:p.V121F;PTPN2:NM_001207013:exon5:c.G361T:p.V121F;PTPN2:NM_080422:exon5:c.G361T:p.V121F;PTPN2:NM_002828:exon5:c.G361T:p.V121F;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G64T:p.V22F;ENSG00000175354:ENST00000591115:exon5:c.G361T:p.V121F;ENSG00000175354:ENST00000327283:exon5:c.G361T:p.V121F;ENSG00000175354:ENST00000591497:exon5:c.G274T:p.V92F;ENSG00000175354:ENST00000309660:exon5:c.G361T:p.V121F;ENSG00000175354:ENST00000353319:exon5:c.G361T:p.V121F;ENSG00000175354:ENST00000592776:exon5:c.G361T:p.V121F;	0.999839057067747	0.994
18	12825943	C	G	18	12825944	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.G361C:p.V121L;PTPN2:NM_001207013:exon5:c.G361C:p.V121L;PTPN2:NM_080422:exon5:c.G361C:p.V121L;PTPN2:NM_002828:exon5:c.G361C:p.V121L;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G64C:p.V22L;ENSG00000175354:ENST00000591115:exon5:c.G361C:p.V121L;ENSG00000175354:ENST00000327283:exon5:c.G361C:p.V121L;ENSG00000175354:ENST00000591497:exon5:c.G274C:p.V92L;ENSG00000175354:ENST00000309660:exon5:c.G361C:p.V121L;ENSG00000175354:ENST00000353319:exon5:c.G361C:p.V121L;ENSG00000175354:ENST00000592776:exon5:c.G361C:p.V121L;	0.996068455936189	0.738
18	12825943	C	T	18	12825944	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon5:c.G361A:p.V121I;PTPN2:NM_001207013:exon5:c.G361A:p.V121I;PTPN2:NM_080422:exon5:c.G361A:p.V121I;PTPN2:NM_002828:exon5:c.G361A:p.V121I;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon5:c.G64A:p.V22I;ENSG00000175354:ENST00000591115:exon5:c.G361A:p.V121I;ENSG00000175354:ENST00000327283:exon5:c.G361A:p.V121I;ENSG00000175354:ENST00000591497:exon5:c.G274A:p.V92I;ENSG00000175354:ENST00000309660:exon5:c.G361A:p.V121I;ENSG00000175354:ENST00000353319:exon5:c.G361A:p.V121I;ENSG00000175354:ENST00000592776:exon5:c.G361A:p.V121I;	0.770291507081182	0.55
18	12825944	C	A	18	12825945	y	y	splicing	PTPN2(NM_080422:exon6:c.361-1G>T;NM_080423:exon6:c.361-1G>T;NM_001207013:exon6:c.361-1G>T;NM_002828:exon6:c.361-1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon6:c.361-1G>T;ENST00000591115:exon6:c.361-1G>T;ENST00000353319:exon6:c.361-1G>T;ENST00000309660:exon6:c.361-1G>T;ENST00000591497:exon6:c.274-1G>T;ENST00000592776:exon6:c.361-1G>T;ENST00000589216:exon5:c.270-1G>T;ENST00000592059:exon6:c.64-1G>T)	.	.	0.999984967332678	0.942
18	12825944	C	G	18	12825945	y	y	splicing	PTPN2(NM_080422:exon6:c.361-1G>C;NM_080423:exon6:c.361-1G>C;NM_001207013:exon6:c.361-1G>C;NM_002828:exon6:c.361-1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon6:c.361-1G>C;ENST00000591115:exon6:c.361-1G>C;ENST00000353319:exon6:c.361-1G>C;ENST00000309660:exon6:c.361-1G>C;ENST00000591497:exon6:c.274-1G>C;ENST00000592776:exon6:c.361-1G>C;ENST00000589216:exon5:c.270-1G>C;ENST00000592059:exon6:c.64-1G>C)	.	.	0.999984967332678	0.942
18	12825944	C	T	18	12825945	y	y	splicing	PTPN2(NM_080422:exon6:c.361-1G>A;NM_080423:exon6:c.361-1G>A;NM_001207013:exon6:c.361-1G>A;NM_002828:exon6:c.361-1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon6:c.361-1G>A;ENST00000591115:exon6:c.361-1G>A;ENST00000353319:exon6:c.361-1G>A;ENST00000309660:exon6:c.361-1G>A;ENST00000591497:exon6:c.274-1G>A;ENST00000592776:exon6:c.361-1G>A;ENST00000589216:exon5:c.270-1G>A;ENST00000592059:exon6:c.64-1G>A)	.	.	0.999984967332678	0.942
18	12825945	T	A	18	12825946	y	y	splicing	PTPN2(NM_080422:exon6:c.361-2A>T;NM_080423:exon6:c.361-2A>T;NM_001207013:exon6:c.361-2A>T;NM_002828:exon6:c.361-2A>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon6:c.361-2A>T;ENST00000591115:exon6:c.361-2A>T;ENST00000353319:exon6:c.361-2A>T;ENST00000309660:exon6:c.361-2A>T;ENST00000591497:exon6:c.274-2A>T;ENST00000592776:exon6:c.361-2A>T;ENST00000589216:exon5:c.270-2A>T;ENST00000592059:exon6:c.64-2A>T)	.	.	0.999988624979899	0.936
18	12825945	T	C	18	12825946	y	y	splicing	PTPN2(NM_080422:exon6:c.361-2A>G;NM_080423:exon6:c.361-2A>G;NM_001207013:exon6:c.361-2A>G;NM_002828:exon6:c.361-2A>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon6:c.361-2A>G;ENST00000591115:exon6:c.361-2A>G;ENST00000353319:exon6:c.361-2A>G;ENST00000309660:exon6:c.361-2A>G;ENST00000591497:exon6:c.274-2A>G;ENST00000592776:exon6:c.361-2A>G;ENST00000589216:exon5:c.270-2A>G;ENST00000592059:exon6:c.64-2A>G)	.	.	0.999988624979899	0.936
18	12825945	T	G	18	12825946	y	y	splicing	PTPN2(NM_080422:exon6:c.361-2A>C;NM_080423:exon6:c.361-2A>C;NM_001207013:exon6:c.361-2A>C;NM_002828:exon6:c.361-2A>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon6:c.361-2A>C;ENST00000591115:exon6:c.361-2A>C;ENST00000353319:exon6:c.361-2A>C;ENST00000309660:exon6:c.361-2A>C;ENST00000591497:exon6:c.274-2A>C;ENST00000592776:exon6:c.361-2A>C;ENST00000589216:exon5:c.270-2A>C;ENST00000592059:exon6:c.64-2A>C)	.	.	0.999988624979899	0.936
18	12825946	A	C	18	12825947	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.989726418423143	0.644
18	12825946	A	G	18	12825947	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.23914876612425E-4	0.018
18	12825946	A	T	18	12825947	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.131117429398244	0.458
18	12825947	A	C	18	12825948	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00100498927751894	0.072
18	12825947	A	G	18	12825948	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.75970057132963E-4	0.054
18	12825947	A	T	18	12825948	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00195403472814886	0.022
18	12825948	A	C	18	12825949	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999963439592483	0.964
18	12825948	A	G	18	12825949	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.011122950608027	0.204
18	12825948	A	T	18	12825949	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.661779494124531	0.62
18	12825949	T	A	18	12825950	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.70646007489933E-4	0.006
18	12825949	T	C	18	12825950	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.997406749718663	0.978
18	12825949	T	G	18	12825950	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.09887940467991E-4	0.008
18	12825950	T	A	18	12825951	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.06481237244302E-5	0.0
18	12825950	T	C	18	12825951	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.988947059835877	0.982
18	12825950	T	G	18	12825951	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.95048459408849E-5	0.0
18	12825951	T	A	18	12825952	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.01747088963443E-5	0.0
18	12825951	T	C	18	12825952	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.87779175806979E-5	0.002
18	12825951	T	G	18	12825952	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.87627018968171E-6	0.0
18	12825952	A	C	18	12825953	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0305327585397435	0.306
18	12825952	A	G	18	12825953	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.1833270940384E-4	0.024
18	12825952	A	T	18	12825953	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00400453244780765	0.234
18	12825953	G	A	18	12825954	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.31828904582659E-5	0.0
18	12825953	G	C	18	12825954	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.64671260758802E-4	0.064
18	12825953	G	T	18	12825954	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.12251683272927E-4	0.042
18	12825954	A	C	18	12825955	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.604344793429779	0.56
18	12825954	A	G	18	12825955	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00487895055939374	0.082
18	12825954	A	T	18	12825955	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.902809448794727	0.598
18	12825955	A	C	18	12825956	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0660669211574642	0.402
18	12825955	A	G	18	12825956	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.268384751291E-4	0.062
18	12825955	A	T	18	12825956	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0510972870860484	0.44
18	12830934	T	A	18	12830935	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.53380169268015E-4	0.006
18	12830934	T	C	18	12830935	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.24271619346451E-4	0.024
18	12830934	T	G	18	12830935	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.37840442220396E-4	0.068
18	12830935	T	A	18	12830936	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.1818482942472E-5	0.008
18	12830935	T	C	18	12830936	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.2277083609E-5	0.002
18	12830935	T	G	18	12830936	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.71407187840726E-5	0.008
18	12830936	A	C	18	12830937	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.984538659223719	0.722
18	12830936	A	G	18	12830937	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.975744841762935	0.698
18	12830936	A	T	18	12830937	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.97529407635629	0.764
18	12830937	C	A	18	12830938	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999887923673685	0.916
18	12830937	C	G	18	12830938	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999850504301421	0.996
18	12830937	C	T	18	12830938	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999771765100759	0.976
18	12830938	T	A	18	12830939	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.997766437144049	0.878
18	12830938	T	C	18	12830939	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.997381980250937	0.938
18	12830938	T	G	18	12830939	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.997358290560413	0.884
18	12830939	C	A	18	12830940	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.855288860893976	0.546
18	12830939	C	G	18	12830940	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.74738640543165	0.574
18	12830939	C	T	18	12830940	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.48264047100024E-5	0.002
18	12830940	A	C	18	12830941	y	y	splicing	PTPN2(NM_080422:exon5:c.360+2T>G;NM_080423:exon5:c.360+2T>G;NM_001207013:exon5:c.360+2T>G;NM_002828:exon5:c.360+2T>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.360+2T>G;ENST00000591115:exon5:c.360+2T>G;ENST00000353319:exon5:c.360+2T>G;ENST00000587703:exon3:c.133+2T>G;ENST00000309660:exon5:c.360+2T>G;ENST00000591497:exon5:c.273+2T>G;ENST00000591305:exon4:c.269+2T>G;ENST00000592776:exon5:c.360+2T>G;ENST00000589216:exon4:c.269+2T>G;ENST00000592059:exon5:c.63+2T>G)	.	.	0.999989917668626	0.928
18	12830940	A	G	18	12830941	y	y	splicing	PTPN2(NM_080422:exon5:c.360+2T>C;NM_080423:exon5:c.360+2T>C;NM_001207013:exon5:c.360+2T>C;NM_002828:exon5:c.360+2T>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.360+2T>C;ENST00000591115:exon5:c.360+2T>C;ENST00000353319:exon5:c.360+2T>C;ENST00000587703:exon3:c.133+2T>C;ENST00000309660:exon5:c.360+2T>C;ENST00000591497:exon5:c.273+2T>C;ENST00000591305:exon4:c.269+2T>C;ENST00000592776:exon5:c.360+2T>C;ENST00000589216:exon4:c.269+2T>C;ENST00000592059:exon5:c.63+2T>C)	.	.	0.999939711763648	0.852
18	12830940	A	T	18	12830941	y	y	splicing	PTPN2(NM_080422:exon5:c.360+2T>A;NM_080423:exon5:c.360+2T>A;NM_001207013:exon5:c.360+2T>A;NM_002828:exon5:c.360+2T>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.360+2T>A;ENST00000591115:exon5:c.360+2T>A;ENST00000353319:exon5:c.360+2T>A;ENST00000587703:exon3:c.133+2T>A;ENST00000309660:exon5:c.360+2T>A;ENST00000591497:exon5:c.273+2T>A;ENST00000591305:exon4:c.269+2T>A;ENST00000592776:exon5:c.360+2T>A;ENST00000589216:exon4:c.269+2T>A;ENST00000592059:exon5:c.63+2T>A)	.	.	0.999989917668626	0.928
18	12830941	C	A	18	12830942	y	y	splicing	PTPN2(NM_080422:exon5:c.360+1G>T;NM_080423:exon5:c.360+1G>T;NM_001207013:exon5:c.360+1G>T;NM_002828:exon5:c.360+1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.360+1G>T;ENST00000591115:exon5:c.360+1G>T;ENST00000353319:exon5:c.360+1G>T;ENST00000587703:exon3:c.133+1G>T;ENST00000309660:exon5:c.360+1G>T;ENST00000591497:exon5:c.273+1G>T;ENST00000591305:exon4:c.269+1G>T;ENST00000592776:exon5:c.360+1G>T;ENST00000589216:exon4:c.269+1G>T;ENST00000592059:exon5:c.63+1G>T)	.	.	0.999981760802075	0.944
18	12830941	C	G	18	12830942	y	y	splicing	PTPN2(NM_080422:exon5:c.360+1G>C;NM_080423:exon5:c.360+1G>C;NM_001207013:exon5:c.360+1G>C;NM_002828:exon5:c.360+1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.360+1G>C;ENST00000591115:exon5:c.360+1G>C;ENST00000353319:exon5:c.360+1G>C;ENST00000587703:exon3:c.133+1G>C;ENST00000309660:exon5:c.360+1G>C;ENST00000591497:exon5:c.273+1G>C;ENST00000591305:exon4:c.269+1G>C;ENST00000592776:exon5:c.360+1G>C;ENST00000589216:exon4:c.269+1G>C;ENST00000592059:exon5:c.63+1G>C)	.	.	0.999981760802075	0.944
18	12830941	C	T	18	12830942	y	y	splicing	PTPN2(NM_080422:exon5:c.360+1G>A;NM_080423:exon5:c.360+1G>A;NM_001207013:exon5:c.360+1G>A;NM_002828:exon5:c.360+1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.360+1G>A;ENST00000591115:exon5:c.360+1G>A;ENST00000353319:exon5:c.360+1G>A;ENST00000587703:exon3:c.133+1G>A;ENST00000309660:exon5:c.360+1G>A;ENST00000591497:exon5:c.273+1G>A;ENST00000591305:exon4:c.269+1G>A;ENST00000592776:exon5:c.360+1G>A;ENST00000589216:exon4:c.269+1G>A;ENST00000592059:exon5:c.63+1G>A)	.	.	0.999981760802075	0.944
18	12830942	C	A	18	12830943	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon4:c.G360T:p.S120S;PTPN2:NM_001207013:exon4:c.G360T:p.S120S;PTPN2:NM_080422:exon4:c.G360T:p.S120S;PTPN2:NM_002828:exon4:c.G360T:p.S120S;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon4:c.G63T:p.S21S;ENSG00000175354:ENST00000591115:exon4:c.G360T:p.S120S;ENSG00000175354:ENST00000327283:exon4:c.G360T:p.S120S;ENSG00000175354:ENST00000591497:exon4:c.G273T:p.S91S;ENSG00000175354:ENST00000309660:exon4:c.G360T:p.S120S;ENSG00000175354:ENST00000353319:exon4:c.G360T:p.S120S;ENSG00000175354:ENST00000592776:exon4:c.G360T:p.S120S;	0.999777106951425	0.986
18	12830942	C	G	18	12830943	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon4:c.G360C:p.S120S;PTPN2:NM_001207013:exon4:c.G360C:p.S120S;PTPN2:NM_080422:exon4:c.G360C:p.S120S;PTPN2:NM_002828:exon4:c.G360C:p.S120S;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon4:c.G63C:p.S21S;ENSG00000175354:ENST00000591115:exon4:c.G360C:p.S120S;ENSG00000175354:ENST00000327283:exon4:c.G360C:p.S120S;ENSG00000175354:ENST00000591497:exon4:c.G273C:p.S91S;ENSG00000175354:ENST00000309660:exon4:c.G360C:p.S120S;ENSG00000175354:ENST00000353319:exon4:c.G360C:p.S120S;ENSG00000175354:ENST00000592776:exon4:c.G360C:p.S120S;	0.997825504301211	0.824
18	12830942	C	T	18	12830943	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon4:c.G360A:p.S120S;PTPN2:NM_001207013:exon4:c.G360A:p.S120S;PTPN2:NM_080422:exon4:c.G360A:p.S120S;PTPN2:NM_002828:exon4:c.G360A:p.S120S;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000592059:exon4:c.G63A:p.S21S;ENSG00000175354:ENST00000591115:exon4:c.G360A:p.S120S;ENSG00000175354:ENST00000327283:exon4:c.G360A:p.S120S;ENSG00000175354:ENST00000591497:exon4:c.G273A:p.S91S;ENSG00000175354:ENST00000309660:exon4:c.G360A:p.S120S;ENSG00000175354:ENST00000353319:exon4:c.G360A:p.S120S;ENSG00000175354:ENST00000592776:exon4:c.G360A:p.S120S;	0.996894610718989	0.954
18	12830943	G	A	18	12830944	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.C359T:p.S120L;PTPN2:NM_001207013:exon4:c.C359T:p.S120L;PTPN2:NM_080422:exon4:c.C359T:p.S120L;PTPN2:NM_002828:exon4:c.C359T:p.S120L;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon4:c.C62T:p.S21L;ENSG00000175354:ENST00000591115:exon4:c.C359T:p.S120L;ENSG00000175354:ENST00000327283:exon4:c.C359T:p.S120L;ENSG00000175354:ENST00000591497:exon4:c.C272T:p.S91L;ENSG00000175354:ENST00000309660:exon4:c.C359T:p.S120L;ENSG00000175354:ENST00000353319:exon4:c.C359T:p.S120L;ENSG00000175354:ENST00000592776:exon4:c.C359T:p.S120L;	0.99128063027297	0.806
18	12830943	G	C	18	12830944	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.C359G:p.S120W;PTPN2:NM_001207013:exon4:c.C359G:p.S120W;PTPN2:NM_080422:exon4:c.C359G:p.S120W;PTPN2:NM_002828:exon4:c.C359G:p.S120W;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon4:c.C62G:p.S21W;ENSG00000175354:ENST00000591115:exon4:c.C359G:p.S120W;ENSG00000175354:ENST00000327283:exon4:c.C359G:p.S120W;ENSG00000175354:ENST00000591497:exon4:c.C272G:p.S91W;ENSG00000175354:ENST00000309660:exon4:c.C359G:p.S120W;ENSG00000175354:ENST00000353319:exon4:c.C359G:p.S120W;ENSG00000175354:ENST00000592776:exon4:c.C359G:p.S120W;	0.968857425133954	0.814
18	12830943	G	T	18	12830944	y	y	exonic	PTPN2	stopgain SNV	PTPN2:NM_080423:exon4:c.C359A:p.S120X;PTPN2:NM_001207013:exon4:c.C359A:p.S120X;PTPN2:NM_080422:exon4:c.C359A:p.S120X;PTPN2:NM_002828:exon4:c.C359A:p.S120X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000592059:exon4:c.C62A:p.S21X;ENSG00000175354:ENST00000591115:exon4:c.C359A:p.S120X;ENSG00000175354:ENST00000327283:exon4:c.C359A:p.S120X;ENSG00000175354:ENST00000591497:exon4:c.C272A:p.S91X;ENSG00000175354:ENST00000309660:exon4:c.C359A:p.S120X;ENSG00000175354:ENST00000353319:exon4:c.C359A:p.S120X;ENSG00000175354:ENST00000592776:exon4:c.C359A:p.S120X;	0.963102933580711	0.722
18	12830944	A	C	18	12830945	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.T358G:p.S120A;PTPN2:NM_001207013:exon4:c.T358G:p.S120A;PTPN2:NM_080422:exon4:c.T358G:p.S120A;PTPN2:NM_002828:exon4:c.T358G:p.S120A;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon4:c.T61G:p.S21A;ENSG00000175354:ENST00000591115:exon4:c.T358G:p.S120A;ENSG00000175354:ENST00000327283:exon4:c.T358G:p.S120A;ENSG00000175354:ENST00000591497:exon4:c.T271G:p.S91A;ENSG00000175354:ENST00000309660:exon4:c.T358G:p.S120A;ENSG00000175354:ENST00000353319:exon4:c.T358G:p.S120A;ENSG00000175354:ENST00000592776:exon4:c.T358G:p.S120A;	0.0416548348734426	0.294
18	12830944	A	G	18	12830945	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.T358C:p.S120P;PTPN2:NM_001207013:exon4:c.T358C:p.S120P;PTPN2:NM_080422:exon4:c.T358C:p.S120P;PTPN2:NM_002828:exon4:c.T358C:p.S120P;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon4:c.T61C:p.S21P;ENSG00000175354:ENST00000591115:exon4:c.T358C:p.S120P;ENSG00000175354:ENST00000327283:exon4:c.T358C:p.S120P;ENSG00000175354:ENST00000591497:exon4:c.T271C:p.S91P;ENSG00000175354:ENST00000309660:exon4:c.T358C:p.S120P;ENSG00000175354:ENST00000353319:exon4:c.T358C:p.S120P;ENSG00000175354:ENST00000592776:exon4:c.T358C:p.S120P;	0.404239245641643	0.612
18	12830944	A	T	18	12830945	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.T358A:p.S120T;PTPN2:NM_001207013:exon4:c.T358A:p.S120T;PTPN2:NM_080422:exon4:c.T358A:p.S120T;PTPN2:NM_002828:exon4:c.T358A:p.S120T;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000592059:exon4:c.T61A:p.S21T;ENSG00000175354:ENST00000591115:exon4:c.T358A:p.S120T;ENSG00000175354:ENST00000327283:exon4:c.T358A:p.S120T;ENSG00000175354:ENST00000591497:exon4:c.T271A:p.S91T;ENSG00000175354:ENST00000309660:exon4:c.T358A:p.S120T;ENSG00000175354:ENST00000353319:exon4:c.T358A:p.S120T;ENSG00000175354:ENST00000592776:exon4:c.T358A:p.S120T;	0.0119260821685681	0.162
18	12831039	C	A	18	12831040	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.G263T:p.G88V;PTPN2:NM_001207013:exon4:c.G263T:p.G88V;PTPN2:NM_080422:exon4:c.G263T:p.G88V;PTPN2:NM_002828:exon4:c.G263T:p.G88V;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon4:c.G263T:p.G88V;ENSG00000175354:ENST00000327283:exon4:c.G263T:p.G88V;ENSG00000175354:ENST00000591497:exon4:c.G176T:p.G59V;ENSG00000175354:ENST00000309660:exon4:c.G263T:p.G88V;ENSG00000175354:ENST00000353319:exon4:c.G263T:p.G88V;ENSG00000175354:ENST00000592776:exon4:c.G263T:p.G88V;	0.968707743949732	0.884
18	12831039	C	G	18	12831040	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.G263C:p.G88A;PTPN2:NM_001207013:exon4:c.G263C:p.G88A;PTPN2:NM_080422:exon4:c.G263C:p.G88A;PTPN2:NM_002828:exon4:c.G263C:p.G88A;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon4:c.G263C:p.G88A;ENSG00000175354:ENST00000327283:exon4:c.G263C:p.G88A;ENSG00000175354:ENST00000591497:exon4:c.G176C:p.G59A;ENSG00000175354:ENST00000309660:exon4:c.G263C:p.G88A;ENSG00000175354:ENST00000353319:exon4:c.G263C:p.G88A;ENSG00000175354:ENST00000592776:exon4:c.G263C:p.G88A;	0.970990043577543	0.858
18	12831039	C	T	18	12831040	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.G263A:p.G88D;PTPN2:NM_001207013:exon4:c.G263A:p.G88D;PTPN2:NM_080422:exon4:c.G263A:p.G88D;PTPN2:NM_002828:exon4:c.G263A:p.G88D;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon4:c.G263A:p.G88D;ENSG00000175354:ENST00000327283:exon4:c.G263A:p.G88D;ENSG00000175354:ENST00000591497:exon4:c.G176A:p.G59D;ENSG00000175354:ENST00000309660:exon4:c.G263A:p.G88D;ENSG00000175354:ENST00000353319:exon4:c.G263A:p.G88D;ENSG00000175354:ENST00000592776:exon4:c.G263A:p.G88D;	0.974090496807322	0.888
18	12831040	C	A	18	12831041	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.G262T:p.G88C;PTPN2:NM_001207013:exon4:c.G262T:p.G88C;PTPN2:NM_080422:exon4:c.G262T:p.G88C;PTPN2:NM_002828:exon4:c.G262T:p.G88C;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon4:c.G262T:p.G88C;ENSG00000175354:ENST00000327283:exon4:c.G262T:p.G88C;ENSG00000175354:ENST00000591497:exon4:c.G175T:p.G59C;ENSG00000175354:ENST00000309660:exon4:c.G262T:p.G88C;ENSG00000175354:ENST00000353319:exon4:c.G262T:p.G88C;ENSG00000175354:ENST00000592776:exon4:c.G262T:p.G88C;	0.997868241019944	0.796
18	12831040	C	G	18	12831041	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.G262C:p.G88R;PTPN2:NM_001207013:exon4:c.G262C:p.G88R;PTPN2:NM_080422:exon4:c.G262C:p.G88R;PTPN2:NM_002828:exon4:c.G262C:p.G88R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon4:c.G262C:p.G88R;ENSG00000175354:ENST00000327283:exon4:c.G262C:p.G88R;ENSG00000175354:ENST00000591497:exon4:c.G175C:p.G59R;ENSG00000175354:ENST00000309660:exon4:c.G262C:p.G88R;ENSG00000175354:ENST00000353319:exon4:c.G262C:p.G88R;ENSG00000175354:ENST00000592776:exon4:c.G262C:p.G88R;	0.997861189456636	0.816
18	12831040	C	T	18	12831041	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon4:c.G262A:p.G88S;PTPN2:NM_001207013:exon4:c.G262A:p.G88S;PTPN2:NM_080422:exon4:c.G262A:p.G88S;PTPN2:NM_002828:exon4:c.G262A:p.G88S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon4:c.G262A:p.G88S;ENSG00000175354:ENST00000327283:exon4:c.G262A:p.G88S;ENSG00000175354:ENST00000591497:exon4:c.G175A:p.G59S;ENSG00000175354:ENST00000309660:exon4:c.G262A:p.G88S;ENSG00000175354:ENST00000353319:exon4:c.G262A:p.G88S;ENSG00000175354:ENST00000592776:exon4:c.G262A:p.G88S;	0.994926798374523	0.762
18	12831041	C	A	18	12831042	y	y	splicing	PTPN2(NM_080422:exon5:c.262-1G>T;NM_080423:exon5:c.262-1G>T;NM_001207013:exon5:c.262-1G>T;NM_002828:exon5:c.262-1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.262-1G>T;ENST00000591115:exon5:c.262-1G>T;ENST00000353319:exon5:c.262-1G>T;ENST00000587703:exon3:c.35-1G>T;ENST00000309660:exon5:c.262-1G>T;ENST00000591497:exon5:c.175-1G>T;ENST00000591305:exon4:c.171-1G>T;ENST00000592776:exon5:c.262-1G>T;ENST00000589216:exon4:c.171-1G>T)	.	.	0.999985532734767	0.936
18	12831041	C	G	18	12831042	y	y	splicing	PTPN2(NM_080422:exon5:c.262-1G>C;NM_080423:exon5:c.262-1G>C;NM_001207013:exon5:c.262-1G>C;NM_002828:exon5:c.262-1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.262-1G>C;ENST00000591115:exon5:c.262-1G>C;ENST00000353319:exon5:c.262-1G>C;ENST00000587703:exon3:c.35-1G>C;ENST00000309660:exon5:c.262-1G>C;ENST00000591497:exon5:c.175-1G>C;ENST00000591305:exon4:c.171-1G>C;ENST00000592776:exon5:c.262-1G>C;ENST00000589216:exon4:c.171-1G>C)	.	.	0.999985532734767	0.936
18	12831041	C	T	18	12831042	y	y	splicing	PTPN2(NM_080422:exon5:c.262-1G>A;NM_080423:exon5:c.262-1G>A;NM_001207013:exon5:c.262-1G>A;NM_002828:exon5:c.262-1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.262-1G>A;ENST00000591115:exon5:c.262-1G>A;ENST00000353319:exon5:c.262-1G>A;ENST00000587703:exon3:c.35-1G>A;ENST00000309660:exon5:c.262-1G>A;ENST00000591497:exon5:c.175-1G>A;ENST00000591305:exon4:c.171-1G>A;ENST00000592776:exon5:c.262-1G>A;ENST00000589216:exon4:c.171-1G>A)	.	.	0.999985532734767	0.936
18	12831042	T	A	18	12831043	y	y	splicing	PTPN2(NM_080422:exon5:c.262-2A>T;NM_080423:exon5:c.262-2A>T;NM_001207013:exon5:c.262-2A>T;NM_002828:exon5:c.262-2A>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.262-2A>T;ENST00000591115:exon5:c.262-2A>T;ENST00000353319:exon5:c.262-2A>T;ENST00000587703:exon3:c.35-2A>T;ENST00000309660:exon5:c.262-2A>T;ENST00000591497:exon5:c.175-2A>T;ENST00000591305:exon4:c.171-2A>T;ENST00000592776:exon5:c.262-2A>T;ENST00000589216:exon4:c.171-2A>T)	.	.	0.999988247793601	0.926
18	12831042	T	C	18	12831043	y	y	splicing	PTPN2(NM_080422:exon5:c.262-2A>G;NM_080423:exon5:c.262-2A>G;NM_001207013:exon5:c.262-2A>G;NM_002828:exon5:c.262-2A>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.262-2A>G;ENST00000591115:exon5:c.262-2A>G;ENST00000353319:exon5:c.262-2A>G;ENST00000587703:exon3:c.35-2A>G;ENST00000309660:exon5:c.262-2A>G;ENST00000591497:exon5:c.175-2A>G;ENST00000591305:exon4:c.171-2A>G;ENST00000592776:exon5:c.262-2A>G;ENST00000589216:exon4:c.171-2A>G)	.	.	0.999988247793601	0.926
18	12831042	T	G	18	12831043	y	y	splicing	PTPN2(NM_080422:exon5:c.262-2A>C;NM_080423:exon5:c.262-2A>C;NM_001207013:exon5:c.262-2A>C;NM_002828:exon5:c.262-2A>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon5:c.262-2A>C;ENST00000591115:exon5:c.262-2A>C;ENST00000353319:exon5:c.262-2A>C;ENST00000587703:exon3:c.35-2A>C;ENST00000309660:exon5:c.262-2A>C;ENST00000591497:exon5:c.175-2A>C;ENST00000591305:exon4:c.171-2A>C;ENST00000592776:exon5:c.262-2A>C;ENST00000589216:exon4:c.171-2A>C)	.	.	0.999988247793601	0.926
18	12831043	G	A	18	12831044	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.021080309540193	0.264
18	12831043	G	C	18	12831044	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999797958836946	0.942
18	12831043	G	T	18	12831044	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.558197563528732	0.552
18	12831044	T	A	18	12831045	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.81019320324154E-5	0.004
18	12831044	T	C	18	12831045	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.60160393288657E-5	0.0
18	12831044	T	G	18	12831045	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.45429084129441E-5	0.0
18	12831045	G	A	18	12831046	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.89024886798851E-5	0.0
18	12831045	G	C	18	12831046	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.71018114755149E-5	0.032
18	12831045	G	T	18	12831046	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.12033483347209E-4	0.046
18	12831046	A	C	18	12831047	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00160712357987719	0.116
18	12831046	A	G	18	12831047	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.34968439719284E-4	0.016
18	12831046	A	T	18	12831047	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.73733207269112E-4	0.102
18	12831047	A	C	18	12831048	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.21930999760874E-4	0.04
18	12831047	A	G	18	12831048	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.22035483747353E-5	0.006
18	12831047	A	T	18	12831048	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00124558767766745	0.084
18	12831048	G	A	18	12831049	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.89288208061758E-5	0.004
18	12831048	G	C	18	12831049	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.21776439644101E-5	0.018
18	12831048	G	T	18	12831049	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.87584196960928E-4	0.032
18	12831049	A	C	18	12831050	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00121688228604322	0.088
18	12831049	A	G	18	12831050	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.45882986117645E-4	0.008
18	12831049	A	T	18	12831050	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0011137933845341	0.072
18	12831050	G	A	18	12831051	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.2249232936004E-5	0.008
18	12831050	G	C	18	12831051	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.97864095909781E-5	0.008
18	12831050	G	T	18	12831051	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.05038989892602E-5	0.01
18	12831051	A	C	18	12831052	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.7761271922012E-4	0.184
18	12831051	A	G	18	12831052	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.09780474615357E-4	0.066
18	12831051	A	T	18	12831052	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00121751239521662	0.252
18	12831052	G	A	18	12831053	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.26848964498332E-5	0.002
18	12831052	G	C	18	12831053	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.55608452284979E-5	0.004
18	12831052	G	T	18	12831053	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.70652346530969E-5	0.01
18	12836889	A	C	18	12836890	y	y	exonic	PTPN2	stopgain SNV	PTPN2:NM_080423:exon3:c.T162G:p.Y54X;PTPN2:NM_001207013:exon3:c.T162G:p.Y54X;PTPN2:NM_080422:exon3:c.T162G:p.Y54X;PTPN2:NM_002828:exon3:c.T162G:p.Y54X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000591115:exon3:c.T162G:p.Y54X;ENSG00000175354:ENST00000327283:exon3:c.T162G:p.Y54X;ENSG00000175354:ENST00000309660:exon3:c.T162G:p.Y54X;ENSG00000175354:ENST00000353319:exon3:c.T162G:p.Y54X;ENSG00000175354:ENST00000592776:exon3:c.T162G:p.Y54X;	0.0446384035598725	0.292
18	12836889	A	G	18	12836890	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon3:c.T162C:p.Y54Y;PTPN2:NM_001207013:exon3:c.T162C:p.Y54Y;PTPN2:NM_080422:exon3:c.T162C:p.Y54Y;PTPN2:NM_002828:exon3:c.T162C:p.Y54Y;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000589216:exon2:c.T71C:p.M24T;ENSG00000175354:ENST00000591305:exon2:c.T71C:p.M24T;	0.00267465629585297	0.186
18	12836889	A	T	18	12836890	y	y	exonic	PTPN2	stopgain SNV	PTPN2:NM_080423:exon3:c.T162A:p.Y54X;PTPN2:NM_001207013:exon3:c.T162A:p.Y54X;PTPN2:NM_080422:exon3:c.T162A:p.Y54X;PTPN2:NM_002828:exon3:c.T162A:p.Y54X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000591115:exon3:c.T162A:p.Y54X;ENSG00000175354:ENST00000327283:exon3:c.T162A:p.Y54X;ENSG00000175354:ENST00000309660:exon3:c.T162A:p.Y54X;ENSG00000175354:ENST00000353319:exon3:c.T162A:p.Y54X;ENSG00000175354:ENST00000592776:exon3:c.T162A:p.Y54X;	0.0466440245659896	0.314
18	12836890	T	A	18	12836891	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon3:c.A161T:p.Y54F;PTPN2:NM_001207013:exon3:c.A161T:p.Y54F;PTPN2:NM_080422:exon3:c.A161T:p.Y54F;PTPN2:NM_002828:exon3:c.A161T:p.Y54F;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon3:c.A161T:p.Y54F;ENSG00000175354:ENST00000327283:exon3:c.A161T:p.Y54F;ENSG00000175354:ENST00000591497:exon3:c.A74T:p.D25V;ENSG00000175354:ENST00000309660:exon3:c.A161T:p.Y54F;ENSG00000175354:ENST00000589216:exon2:c.A70T:p.M24L;ENSG00000175354:ENST00000353319:exon3:c.A161T:p.Y54F;ENSG00000175354:ENST00000592776:exon3:c.A161T:p.Y54F;ENSG00000175354:ENST00000591305:exon2:c.A70T:p.M24L;	0.0310668968496358	0.182
18	12836890	T	C	18	12836891	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon3:c.A161G:p.Y54C;PTPN2:NM_001207013:exon3:c.A161G:p.Y54C;PTPN2:NM_080422:exon3:c.A161G:p.Y54C;PTPN2:NM_002828:exon3:c.A161G:p.Y54C;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon3:c.A161G:p.Y54C;ENSG00000175354:ENST00000327283:exon3:c.A161G:p.Y54C;ENSG00000175354:ENST00000591497:exon3:c.A74G:p.D25G;ENSG00000175354:ENST00000309660:exon3:c.A161G:p.Y54C;ENSG00000175354:ENST00000589216:exon2:c.A70G:p.M24V;ENSG00000175354:ENST00000353319:exon3:c.A161G:p.Y54C;ENSG00000175354:ENST00000592776:exon3:c.A161G:p.Y54C;ENSG00000175354:ENST00000591305:exon2:c.A70G:p.M24V;	0.720821940038365	0.592
18	12836890	T	G	18	12836891	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon3:c.A161C:p.Y54S;PTPN2:NM_001207013:exon3:c.A161C:p.Y54S;PTPN2:NM_080422:exon3:c.A161C:p.Y54S;PTPN2:NM_002828:exon3:c.A161C:p.Y54S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon3:c.A161C:p.Y54S;ENSG00000175354:ENST00000327283:exon3:c.A161C:p.Y54S;ENSG00000175354:ENST00000591497:exon3:c.A74C:p.D25A;ENSG00000175354:ENST00000309660:exon3:c.A161C:p.Y54S;ENSG00000175354:ENST00000589216:exon2:c.A70C:p.M24L;ENSG00000175354:ENST00000353319:exon3:c.A161C:p.Y54S;ENSG00000175354:ENST00000592776:exon3:c.A161C:p.Y54S;ENSG00000175354:ENST00000591305:exon2:c.A70C:p.M24L;	0.850941907298041	0.618
18	12836891	C	A	18	12836892	y	y	splicing	PTPN2(NM_080422:exon4:c.161-1G>T;NM_080423:exon4:c.161-1G>T;NM_001207013:exon4:c.161-1G>T;NM_002828:exon4:c.161-1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon4:c.161-1G>T;ENST00000591115:exon4:c.161-1G>T;ENST00000353319:exon4:c.161-1G>T;ENST00000309660:exon4:c.161-1G>T;ENST00000591497:exon4:c.74-1G>T;ENST00000591305:exon3:c.70-1G>T;ENST00000592776:exon4:c.161-1G>T;ENST00000589216:exon3:c.70-1G>T)	.	.	0.999990361384395	0.938
18	12836891	C	G	18	12836892	y	y	splicing	PTPN2(NM_080422:exon4:c.161-1G>C;NM_080423:exon4:c.161-1G>C;NM_001207013:exon4:c.161-1G>C;NM_002828:exon4:c.161-1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon4:c.161-1G>C;ENST00000591115:exon4:c.161-1G>C;ENST00000353319:exon4:c.161-1G>C;ENST00000309660:exon4:c.161-1G>C;ENST00000591497:exon4:c.74-1G>C;ENST00000591305:exon3:c.70-1G>C;ENST00000592776:exon4:c.161-1G>C;ENST00000589216:exon3:c.70-1G>C)	.	.	0.999990361384395	0.938
18	12836891	C	T	18	12836892	y	y	splicing	PTPN2(NM_080422:exon4:c.161-1G>A;NM_080423:exon4:c.161-1G>A;NM_001207013:exon4:c.161-1G>A;NM_002828:exon4:c.161-1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon4:c.161-1G>A;ENST00000591115:exon4:c.161-1G>A;ENST00000353319:exon4:c.161-1G>A;ENST00000309660:exon4:c.161-1G>A;ENST00000591497:exon4:c.74-1G>A;ENST00000591305:exon3:c.70-1G>A;ENST00000592776:exon4:c.161-1G>A;ENST00000589216:exon3:c.70-1G>A)	.	.	0.999990361384395	0.938
18	12836892	T	A	18	12836893	y	y	splicing	PTPN2(NM_080422:exon4:c.161-2A>T;NM_080423:exon4:c.161-2A>T;NM_001207013:exon4:c.161-2A>T;NM_002828:exon4:c.161-2A>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon4:c.161-2A>T;ENST00000591115:exon4:c.161-2A>T;ENST00000353319:exon4:c.161-2A>T;ENST00000309660:exon4:c.161-2A>T;ENST00000591497:exon4:c.74-2A>T;ENST00000591305:exon3:c.70-2A>T;ENST00000592776:exon4:c.161-2A>T;ENST00000589216:exon3:c.70-2A>T)	.	.	0.999988247793601	0.93
18	12836892	T	C	18	12836893	y	y	splicing	PTPN2(NM_080422:exon4:c.161-2A>G;NM_080423:exon4:c.161-2A>G;NM_001207013:exon4:c.161-2A>G;NM_002828:exon4:c.161-2A>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon4:c.161-2A>G;ENST00000591115:exon4:c.161-2A>G;ENST00000353319:exon4:c.161-2A>G;ENST00000309660:exon4:c.161-2A>G;ENST00000591497:exon4:c.74-2A>G;ENST00000591305:exon3:c.70-2A>G;ENST00000592776:exon4:c.161-2A>G;ENST00000589216:exon3:c.70-2A>G)	.	.	0.999988247793601	0.93
18	12836892	T	G	18	12836893	y	y	splicing	PTPN2(NM_080422:exon4:c.161-2A>C;NM_080423:exon4:c.161-2A>C;NM_001207013:exon4:c.161-2A>C;NM_002828:exon4:c.161-2A>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon4:c.161-2A>C;ENST00000591115:exon4:c.161-2A>C;ENST00000353319:exon4:c.161-2A>C;ENST00000309660:exon4:c.161-2A>C;ENST00000591497:exon4:c.74-2A>C;ENST00000591305:exon3:c.70-2A>C;ENST00000592776:exon4:c.161-2A>C;ENST00000589216:exon3:c.70-2A>C)	.	.	0.999988247793601	0.93
18	12836893	G	A	18	12836894	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0438705094034274	0.204
18	12836893	G	C	18	12836894	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999251552812769	0.948
18	12836893	G	T	18	12836894	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.991175231329662	0.576
18	12836894	A	C	18	12836895	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00102426153700236	0.106
18	12836894	A	G	18	12836895	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.72635365265721E-4	0.096
18	12836894	A	T	18	12836895	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.95953747671314E-4	0.01
18	12836895	A	C	18	12836896	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.355102654481084	0.518
18	12836895	A	G	18	12836896	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0466064446339095	0.146
18	12836895	A	T	18	12836896	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.56135245167032	0.512
18	12836896	A	C	18	12836897	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00877257730005838	0.276
18	12836896	A	G	18	12836897	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.56861885085984E-4	0.046
18	12836896	A	T	18	12836897	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00760955444209753	0.236
18	12836897	A	C	18	12836898	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999326264857342	0.95
18	12836897	A	G	18	12836898	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.2486829785864E-4	0.004
18	12836897	A	T	18	12836898	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00212762366588517	0.046
18	12836898	T	A	18	12836899	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.39074845527264E-5	0.004
18	12836898	T	C	18	12836899	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.30081017321732E-6	0.0
18	12836898	T	G	18	12836899	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.66453194070416E-5	0.008
18	12836899	A	C	18	12836900	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.70181495289367E-4	0.102
18	12836899	A	G	18	12836900	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.13778329414941E-4	0.058
18	12836899	A	T	18	12836900	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00108219381147467	0.116
18	12836900	G	A	18	12836901	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.81927622308766E-5	0.0
18	12836900	G	C	18	12836901	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.28208986207211E-4	0.038
18	12836900	G	T	18	12836901	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.30434779341988E-4	0.04
18	12836901	A	C	18	12836902	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0539282244669258	0.412
18	12836901	A	G	18	12836902	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00636255351447361	0.144
18	12836901	A	T	18	12836902	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.151340263117918	0.422
18	12836902	G	A	18	12836903	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.07882924309345E-4	0.004
18	12836902	G	C	18	12836903	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00105796481504982	0.048
18	12836902	G	T	18	12836903	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00188086692852652	0.082
18	12840705	G	A	18	12840706	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.23990001900786E-4	0.0
18	12840705	G	C	18	12840706	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.86359644168464E-5	0.0
18	12840705	G	T	18	12840706	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.23990001900786E-4	0.004
18	12840706	A	C	18	12840707	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.61519447052934E-5	0.0
18	12840706	A	G	18	12840707	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.61519447052934E-5	0.002
18	12840706	A	T	18	12840707	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.61519447052934E-5	0.0
18	12840707	G	A	18	12840708	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.06619588578661E-5	0.008
18	12840707	G	C	18	12840708	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.06619588578661E-5	0.006
18	12840707	G	T	18	12840708	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.06619588578661E-5	0.006
18	12840708	A	C	18	12840709	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.27663100932972E-5	0.0
18	12840708	A	G	18	12840709	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.27663100932972E-5	0.0
18	12840708	A	T	18	12840709	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.39457982047225E-5	0.0
18	12840709	T	A	18	12840710	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.89925739660516E-5	0.008
18	12840709	T	C	18	12840710	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.89925739660516E-5	0.006
18	12840709	T	G	18	12840710	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.89925739660516E-5	0.006
18	12840710	T	A	18	12840711	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.67535614375061E-5	0.0
18	12840710	T	C	18	12840711	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.67272766448078E-5	0.0
18	12840710	T	G	18	12840711	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.67535614375061E-5	0.0
18	12840711	A	C	18	12840712	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591497:exon3:c.73+2T>G)	.	.	6.67535614375061E-5	0.0
18	12840711	A	G	18	12840712	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591497:exon3:c.73+2T>C)	.	.	6.67535614375061E-5	0.0
18	12840711	A	T	18	12840712	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591497:exon3:c.73+2T>A)	.	.	6.91564032431422E-5	0.0
18	12840712	C	A	18	12840713	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591497:exon3:c.73+1G>T)	.	.	4.97864243205666E-5	0.0
18	12840712	C	G	18	12840713	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591497:exon3:c.73+1G>C)	.	.	4.97864243205666E-5	0.0
18	12840712	C	T	18	12840713	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354(ENST00000591497:exon3:c.73+1G>A)	.	.	5.37205498882069E-5	0.0
18	12840713	C	A	18	12840714	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.G73T:p.D25Y;	1.20590404879984E-5	0.0
18	12840713	C	G	18	12840714	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.G73C:p.D25H;	1.20590404879984E-5	0.0
18	12840713	C	T	18	12840714	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.G73A:p.D25N;	1.20590404879984E-5	0.0
18	12840714	T	A	18	12840715	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.A72T:p.I24I;	1.79022420352036E-5	0.0
18	12840714	T	C	18	12840715	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.A72G:p.I24M;	1.79022420352036E-5	0.0
18	12840714	T	G	18	12840715	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.A72C:p.I24I;	1.79022420352036E-5	0.0
18	12840715	A	C	18	12840716	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.T71G:p.I24R;	6.89925739660516E-5	0.042
18	12840715	A	G	18	12840716	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.T71C:p.I24T;	6.89925739660516E-5	0.022
18	12840715	A	T	18	12840716	n	y	intronic	PTPN2	.	.	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591497:exon2:c.T71A:p.I24K;	5.15941453541388E-5	0.004
18	12840960	T	A	18	12840961	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	1.20590404879984E-5	0.0
18	12840960	T	C	18	12840961	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	1.20590404879984E-5	0.0
18	12840960	T	G	18	12840961	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	1.20590404879984E-5	0.0
18	12840961	A	C	18	12840962	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	6.89925739660516E-5	0.008
18	12840961	A	G	18	12840962	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	6.89925739660516E-5	0.01
18	12840961	A	T	18	12840962	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	6.89925739660516E-5	0.006
18	12840962	C	A	18	12840963	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	4.97864243205666E-5	0.0
18	12840962	C	G	18	12840963	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	3.22319008290309E-5	0.0
18	12840962	C	T	18	12840963	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	4.97864243205666E-5	0.0
18	12840963	T	A	18	12840964	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	6.89925739660516E-5	0.004
18	12840963	T	C	18	12840964	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	3.31929338280547E-5	0.004
18	12840963	T	G	18	12840964	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	3.31929338280547E-5	0.004
18	12840964	T	A	18	12840965	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.08291490468438E-5	0.034
18	12840964	T	C	18	12840965	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.08291490468438E-5	0.006
18	12840964	T	G	18	12840965	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.08291490468438E-5	0.006
18	12840965	T	A	18	12840966	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.004
18	12840965	T	C	18	12840966	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.004
18	12840965	T	G	18	12840966	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.004
18	12840966	C	A	18	12840967	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.07620641825897E-5	0.0
18	12840966	C	G	18	12840967	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.07620641825897E-5	0.0
18	12840966	C	T	18	12840967	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.07620641825897E-5	0.0
18	12840967	A	C	18	12840968	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.002
18	12840967	A	G	18	12840968	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.002
18	12840967	A	T	18	12840968	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.002
18	12840968	G	A	18	12840969	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.3525528897954E-5	0.002
18	12840968	G	C	18	12840969	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.83188681281962E-5	0.01
18	12840968	G	T	18	12840969	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.3525528897954E-5	0.006
18	12840969	C	A	18	12840970	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.78864525412067E-5	0.0
18	12840969	C	G	18	12840970	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.78864525412067E-5	0.0
18	12840969	C	T	18	12840970	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.78864525412067E-5	0.0
18	12840970	A	C	18	12840971	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.80274866394675E-5	0.0
18	12840970	A	G	18	12840971	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.80274866394675E-5	0.008
18	12840970	A	T	18	12840971	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.80274866394675E-5	0.0
18	12840971	A	C	18	12840972	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.78864525412067E-5	0.0
18	12840971	A	G	18	12840972	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.78864525412067E-5	0.0
18	12840971	A	T	18	12840972	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.78864525412067E-5	0.0
18	12840972	T	A	18	12840973	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.002
18	12840972	T	C	18	12840973	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.002
18	12840972	T	G	18	12840973	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.44782069694124E-5	0.002
18	12840973	C	A	18	12840974	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.27456659313109E-5	0.004
18	12840973	C	G	18	12840974	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	9.72760553213487E-5	0.002
18	12840973	C	T	18	12840974	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.27456659313109E-5	0.0
18	12843896	A	C	18	12843897	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.17919877724079E-5	0.0
18	12843896	A	G	18	12843897	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.17919877724079E-5	0.0
18	12843896	A	T	18	12843897	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	7.17919877724079E-5	0.0
18	12843897	C	A	18	12843898	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.51418391700966E-5	0.002
18	12843897	C	G	18	12843898	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.51418391700966E-5	0.002
18	12843897	C	T	18	12843898	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.51418391700966E-5	0.002
18	12843898	A	C	18	12843899	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.81202784363976E-4	0.01
18	12843898	A	G	18	12843899	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.81202784363976E-4	0.006
18	12843898	A	T	18	12843899	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.29305728662496E-4	0.004
18	12843899	C	A	18	12843900	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.07620641825897E-5	0.0
18	12843899	C	G	18	12843900	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.07620641825897E-5	0.0
18	12843899	C	T	18	12843900	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.07620641825897E-5	0.0
18	12843900	A	C	18	12843901	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.60081151915995E-4	0.014
18	12843900	A	G	18	12843901	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.60081151915995E-4	0.014
18	12843900	A	T	18	12843901	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	6.54291542054858E-4	0.018
18	12843901	T	A	18	12843902	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.88014054966508E-5	0.0
18	12843901	T	C	18	12843902	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.88014054966508E-5	0.0
18	12843901	T	G	18	12843902	n	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.88014054966508E-5	0.0
18	12843902	A	C	18	12843903	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	4.57607375837078E-5	0.022
18	12843902	A	G	18	12843903	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	4.57607375837078E-5	0.016
18	12843902	A	T	18	12843903	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	3.42206730061288E-5	0.006
18	12843903	C	A	18	12843904	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	2.45277156108894E-5	0.0
18	12843903	C	G	18	12843904	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	2.45277156108894E-5	0.0
18	12843903	C	T	18	12843904	n	y	intronic	PTPN2	.	.	splicing	ENSG00000175354	.	.	3.78864525412067E-5	0.0
18	12843904	C	A	18	12843905	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	2.68219155180855E-5	0.002
18	12843904	C	G	18	12843905	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	2.68219155180855E-5	0.002
18	12843904	C	T	18	12843905	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	4.14301101535901E-5	0.002
18	12843905	T	A	18	12843906	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	4.14301101535901E-5	0.0
18	12843905	T	C	18	12843906	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	4.14301101535901E-5	0.002
18	12843905	T	G	18	12843906	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	4.14301101535901E-5	0.002
18	12843906	A	C	18	12843907	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	4.57607375837078E-5	0.016
18	12843906	A	G	18	12843907	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	4.57607375837078E-5	0.016
18	12843906	A	T	18	12843907	n	y	intronic	PTPN2	.	.	UTR5	ENSG00000175354	.	.	3.42206730061288E-5	0.006
18	12859155	G	A	18	12859156	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.68952365742707E-5	0.0
18	12859155	G	C	18	12859156	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.41240305611944E-5	0.0
18	12859155	G	T	18	12859156	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.41240305611944E-5	0.0
18	12859156	T	A	18	12859157	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00418579381982443	0.002
18	12859156	T	C	18	12859157	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00352159123232237	0.0
18	12859156	T	G	18	12859157	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00352159123232237	0.0
18	12859157	A	C	18	12859158	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.974566441651844	0.638
18	12859157	A	G	18	12859158	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.983619514822411	0.8
18	12859157	A	T	18	12859158	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.987524207941135	0.742
18	12859158	C	A	18	12859159	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999719052271725	0.864
18	12859158	C	G	18	12859159	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.998858108929596	0.924
18	12859158	C	T	18	12859159	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999278198405868	0.83
18	12859159	T	A	18	12859160	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.996682193771134	0.828
18	12859159	T	C	18	12859160	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.996501273936142	0.914
18	12859159	T	G	18	12859160	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.995687350871514	0.82
18	12859160	T	A	18	12859161	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999637264649721	0.922
18	12859160	T	C	18	12859161	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.891614069797416	0.334
18	12859160	T	G	18	12859161	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999627641659962	0.946
18	12859161	A	C	18	12859162	y	y	splicing	PTPN2(NM_080422:exon3:c.160+2T>G;NM_080423:exon3:c.160+2T>G;NM_001207013:exon3:c.160+2T>G;NM_002828:exon3:c.160+2T>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.160+2T>G;ENST00000591115:exon3:c.160+2T>G;ENST00000353319:exon3:c.160+2T>G;ENST00000309660:exon3:c.160+2T>G;ENST00000592776:exon3:c.160+2T>G)	.	.	0.999989917668626	0.928
18	12859161	A	G	18	12859162	y	y	splicing	PTPN2(NM_080422:exon3:c.160+2T>C;NM_080423:exon3:c.160+2T>C;NM_001207013:exon3:c.160+2T>C;NM_002828:exon3:c.160+2T>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.160+2T>C;ENST00000591115:exon3:c.160+2T>C;ENST00000353319:exon3:c.160+2T>C;ENST00000309660:exon3:c.160+2T>C;ENST00000592776:exon3:c.160+2T>C)	.	.	0.994485838132979	0.642
18	12859161	A	T	18	12859162	y	y	splicing	PTPN2(NM_080422:exon3:c.160+2T>A;NM_080423:exon3:c.160+2T>A;NM_001207013:exon3:c.160+2T>A;NM_002828:exon3:c.160+2T>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.160+2T>A;ENST00000591115:exon3:c.160+2T>A;ENST00000353319:exon3:c.160+2T>A;ENST00000309660:exon3:c.160+2T>A;ENST00000592776:exon3:c.160+2T>A)	.	.	0.999989917668626	0.928
18	12859162	C	A	18	12859163	y	y	splicing	PTPN2(NM_080422:exon3:c.160+1G>T;NM_080423:exon3:c.160+1G>T;NM_001207013:exon3:c.160+1G>T;NM_002828:exon3:c.160+1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.160+1G>T;ENST00000591115:exon3:c.160+1G>T;ENST00000353319:exon3:c.160+1G>T;ENST00000309660:exon3:c.160+1G>T;ENST00000592776:exon3:c.160+1G>T)	.	.	0.999986675681007	0.934
18	12859162	C	G	18	12859163	y	y	splicing	PTPN2(NM_080422:exon3:c.160+1G>C;NM_080423:exon3:c.160+1G>C;NM_001207013:exon3:c.160+1G>C;NM_002828:exon3:c.160+1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.160+1G>C;ENST00000591115:exon3:c.160+1G>C;ENST00000353319:exon3:c.160+1G>C;ENST00000309660:exon3:c.160+1G>C;ENST00000592776:exon3:c.160+1G>C)	.	.	0.999986675681007	0.934
18	12859162	C	T	18	12859163	y	y	splicing	PTPN2(NM_080422:exon3:c.160+1G>A;NM_080423:exon3:c.160+1G>A;NM_001207013:exon3:c.160+1G>A;NM_002828:exon3:c.160+1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.160+1G>A;ENST00000591115:exon3:c.160+1G>A;ENST00000353319:exon3:c.160+1G>A;ENST00000309660:exon3:c.160+1G>A;ENST00000592776:exon3:c.160+1G>A)	.	.	0.999986675681007	0.934
18	12859163	A	C	18	12859164	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.T160G:p.Y54D;PTPN2:NM_001207013:exon2:c.T160G:p.Y54D;PTPN2:NM_080422:exon2:c.T160G:p.Y54D;PTPN2:NM_002828:exon2:c.T160G:p.Y54D;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.T160G:p.Y54D;ENSG00000175354:ENST00000327283:exon2:c.T160G:p.Y54D;ENSG00000175354:ENST00000309660:exon2:c.T160G:p.Y54D;ENSG00000175354:ENST00000353319:exon2:c.T160G:p.Y54D;ENSG00000175354:ENST00000592776:exon2:c.T160G:p.Y54D;	0.23067436645674	0.388
18	12859163	A	G	18	12859164	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.T160C:p.Y54H;PTPN2:NM_001207013:exon2:c.T160C:p.Y54H;PTPN2:NM_080422:exon2:c.T160C:p.Y54H;PTPN2:NM_002828:exon2:c.T160C:p.Y54H;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.T160C:p.Y54H;ENSG00000175354:ENST00000327283:exon2:c.T160C:p.Y54H;ENSG00000175354:ENST00000309660:exon2:c.T160C:p.Y54H;ENSG00000175354:ENST00000353319:exon2:c.T160C:p.Y54H;ENSG00000175354:ENST00000592776:exon2:c.T160C:p.Y54H;	0.923342721587377	0.828
18	12859163	A	T	18	12859164	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.T160A:p.Y54N;PTPN2:NM_001207013:exon2:c.T160A:p.Y54N;PTPN2:NM_080422:exon2:c.T160A:p.Y54N;PTPN2:NM_002828:exon2:c.T160A:p.Y54N;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.T160A:p.Y54N;ENSG00000175354:ENST00000327283:exon2:c.T160A:p.Y54N;ENSG00000175354:ENST00000309660:exon2:c.T160A:p.Y54N;ENSG00000175354:ENST00000353319:exon2:c.T160A:p.Y54N;ENSG00000175354:ENST00000592776:exon2:c.T160A:p.Y54N;	0.675034514303254	0.762
18	12859164	T	A	18	12859165	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon2:c.A159T:p.P53P;PTPN2:NM_001207013:exon2:c.A159T:p.P53P;PTPN2:NM_080422:exon2:c.A159T:p.P53P;PTPN2:NM_002828:exon2:c.A159T:p.P53P;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.A159T:p.P53P;ENSG00000175354:ENST00000327283:exon2:c.A159T:p.P53P;ENSG00000175354:ENST00000309660:exon2:c.A159T:p.P53P;ENSG00000175354:ENST00000353319:exon2:c.A159T:p.P53P;ENSG00000175354:ENST00000592776:exon2:c.A159T:p.P53P;	0.620676880039272	0.624
18	12859164	T	C	18	12859165	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon2:c.A159G:p.P53P;PTPN2:NM_001207013:exon2:c.A159G:p.P53P;PTPN2:NM_080422:exon2:c.A159G:p.P53P;PTPN2:NM_002828:exon2:c.A159G:p.P53P;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.A159G:p.P53P;ENSG00000175354:ENST00000327283:exon2:c.A159G:p.P53P;ENSG00000175354:ENST00000309660:exon2:c.A159G:p.P53P;ENSG00000175354:ENST00000353319:exon2:c.A159G:p.P53P;ENSG00000175354:ENST00000592776:exon2:c.A159G:p.P53P;	0.350514471285852	0.596
18	12859164	T	G	18	12859165	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon2:c.A159C:p.P53P;PTPN2:NM_001207013:exon2:c.A159C:p.P53P;PTPN2:NM_080422:exon2:c.A159C:p.P53P;PTPN2:NM_002828:exon2:c.A159C:p.P53P;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.A159C:p.P53P;ENSG00000175354:ENST00000327283:exon2:c.A159C:p.P53P;ENSG00000175354:ENST00000309660:exon2:c.A159C:p.P53P;ENSG00000175354:ENST00000353319:exon2:c.A159C:p.P53P;ENSG00000175354:ENST00000592776:exon2:c.A159C:p.P53P;	0.660111830765619	0.63
18	12859165	G	A	18	12859166	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.C158T:p.P53L;PTPN2:NM_001207013:exon2:c.C158T:p.P53L;PTPN2:NM_080422:exon2:c.C158T:p.P53L;PTPN2:NM_002828:exon2:c.C158T:p.P53L;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.C158T:p.P53L;ENSG00000175354:ENST00000327283:exon2:c.C158T:p.P53L;ENSG00000175354:ENST00000309660:exon2:c.C158T:p.P53L;ENSG00000175354:ENST00000353319:exon2:c.C158T:p.P53L;ENSG00000175354:ENST00000592776:exon2:c.C158T:p.P53L;	0.994966954813182	0.874
18	12859165	G	C	18	12859166	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.C158G:p.P53R;PTPN2:NM_001207013:exon2:c.C158G:p.P53R;PTPN2:NM_080422:exon2:c.C158G:p.P53R;PTPN2:NM_002828:exon2:c.C158G:p.P53R;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.C158G:p.P53R;ENSG00000175354:ENST00000327283:exon2:c.C158G:p.P53R;ENSG00000175354:ENST00000309660:exon2:c.C158G:p.P53R;ENSG00000175354:ENST00000353319:exon2:c.C158G:p.P53R;ENSG00000175354:ENST00000592776:exon2:c.C158G:p.P53R;	0.852733681280017	0.638
18	12859165	G	T	18	12859166	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.C158A:p.P53Q;PTPN2:NM_001207013:exon2:c.C158A:p.P53Q;PTPN2:NM_080422:exon2:c.C158A:p.P53Q;PTPN2:NM_002828:exon2:c.C158A:p.P53Q;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.C158A:p.P53Q;ENSG00000175354:ENST00000327283:exon2:c.C158A:p.P53Q;ENSG00000175354:ENST00000309660:exon2:c.C158A:p.P53Q;ENSG00000175354:ENST00000353319:exon2:c.C158A:p.P53Q;ENSG00000175354:ENST00000592776:exon2:c.C158A:p.P53Q;	0.913677238367613	0.752
18	12859252	T	A	18	12859253	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.A71T:p.E24V;PTPN2:NM_001207013:exon2:c.A71T:p.E24V;PTPN2:NM_080422:exon2:c.A71T:p.E24V;PTPN2:NM_002828:exon2:c.A71T:p.E24V;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.A71T:p.E24V;ENSG00000175354:ENST00000327283:exon2:c.A71T:p.E24V;ENSG00000175354:ENST00000309660:exon2:c.A71T:p.E24V;ENSG00000175354:ENST00000353319:exon2:c.A71T:p.E24V;ENSG00000175354:ENST00000592776:exon2:c.A71T:p.E24V;	0.763923297448582	0.668
18	12859252	T	C	18	12859253	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.A71G:p.E24G;PTPN2:NM_001207013:exon2:c.A71G:p.E24G;PTPN2:NM_080422:exon2:c.A71G:p.E24G;PTPN2:NM_002828:exon2:c.A71G:p.E24G;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.A71G:p.E24G;ENSG00000175354:ENST00000327283:exon2:c.A71G:p.E24G;ENSG00000175354:ENST00000309660:exon2:c.A71G:p.E24G;ENSG00000175354:ENST00000353319:exon2:c.A71G:p.E24G;ENSG00000175354:ENST00000592776:exon2:c.A71G:p.E24G;	0.527575105741899	0.464
18	12859252	T	G	18	12859253	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.A71C:p.E24A;PTPN2:NM_001207013:exon2:c.A71C:p.E24A;PTPN2:NM_080422:exon2:c.A71C:p.E24A;PTPN2:NM_002828:exon2:c.A71C:p.E24A;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.A71C:p.E24A;ENSG00000175354:ENST00000327283:exon2:c.A71C:p.E24A;ENSG00000175354:ENST00000309660:exon2:c.A71C:p.E24A;ENSG00000175354:ENST00000353319:exon2:c.A71C:p.E24A;ENSG00000175354:ENST00000592776:exon2:c.A71C:p.E24A;	0.398726583820385	0.478
18	12859253	C	A	18	12859254	y	y	exonic	PTPN2	stopgain SNV	PTPN2:NM_080423:exon2:c.G70T:p.E24X;PTPN2:NM_001207013:exon2:c.G70T:p.E24X;PTPN2:NM_080422:exon2:c.G70T:p.E24X;PTPN2:NM_002828:exon2:c.G70T:p.E24X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000591115:exon2:c.G70T:p.E24X;ENSG00000175354:ENST00000327283:exon2:c.G70T:p.E24X;ENSG00000175354:ENST00000309660:exon2:c.G70T:p.E24X;ENSG00000175354:ENST00000353319:exon2:c.G70T:p.E24X;ENSG00000175354:ENST00000592776:exon2:c.G70T:p.E24X;	0.999968074507448	0.992
18	12859253	C	G	18	12859254	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.G70C:p.E24Q;PTPN2:NM_001207013:exon2:c.G70C:p.E24Q;PTPN2:NM_080422:exon2:c.G70C:p.E24Q;PTPN2:NM_002828:exon2:c.G70C:p.E24Q;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.G70C:p.E24Q;ENSG00000175354:ENST00000327283:exon2:c.G70C:p.E24Q;ENSG00000175354:ENST00000309660:exon2:c.G70C:p.E24Q;ENSG00000175354:ENST00000353319:exon2:c.G70C:p.E24Q;ENSG00000175354:ENST00000592776:exon2:c.G70C:p.E24Q;	0.99981779600952	0.982
18	12859253	C	T	18	12859254	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon2:c.G70A:p.E24K;PTPN2:NM_001207013:exon2:c.G70A:p.E24K;PTPN2:NM_080422:exon2:c.G70A:p.E24K;PTPN2:NM_002828:exon2:c.G70A:p.E24K;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon2:c.G70A:p.E24K;ENSG00000175354:ENST00000327283:exon2:c.G70A:p.E24K;ENSG00000175354:ENST00000309660:exon2:c.G70A:p.E24K;ENSG00000175354:ENST00000353319:exon2:c.G70A:p.E24K;ENSG00000175354:ENST00000592776:exon2:c.G70A:p.E24K;	0.999761940426203	0.868
18	12859254	C	A	18	12859255	y	y	splicing	PTPN2(NM_080422:exon3:c.70-1G>T;NM_080423:exon3:c.70-1G>T;NM_001207013:exon3:c.70-1G>T;NM_002828:exon3:c.70-1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.70-1G>T;ENST00000591115:exon3:c.70-1G>T;ENST00000353319:exon3:c.70-1G>T;ENST00000309660:exon3:c.70-1G>T;ENST00000592776:exon3:c.70-1G>T)	.	.	0.999986675681007	0.95
18	12859254	C	G	18	12859255	y	y	splicing	PTPN2(NM_080422:exon3:c.70-1G>C;NM_080423:exon3:c.70-1G>C;NM_001207013:exon3:c.70-1G>C;NM_002828:exon3:c.70-1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.70-1G>C;ENST00000591115:exon3:c.70-1G>C;ENST00000353319:exon3:c.70-1G>C;ENST00000309660:exon3:c.70-1G>C;ENST00000592776:exon3:c.70-1G>C)	.	.	0.999986675681007	0.95
18	12859254	C	T	18	12859255	y	y	splicing	PTPN2(NM_080422:exon3:c.70-1G>A;NM_080423:exon3:c.70-1G>A;NM_001207013:exon3:c.70-1G>A;NM_002828:exon3:c.70-1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.70-1G>A;ENST00000591115:exon3:c.70-1G>A;ENST00000353319:exon3:c.70-1G>A;ENST00000309660:exon3:c.70-1G>A;ENST00000592776:exon3:c.70-1G>A)	.	.	0.999986675681007	0.95
18	12859255	T	A	18	12859256	y	y	splicing	PTPN2(NM_080422:exon3:c.70-2A>T;NM_080423:exon3:c.70-2A>T;NM_001207013:exon3:c.70-2A>T;NM_002828:exon3:c.70-2A>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.70-2A>T;ENST00000591115:exon3:c.70-2A>T;ENST00000353319:exon3:c.70-2A>T;ENST00000309660:exon3:c.70-2A>T;ENST00000592776:exon3:c.70-2A>T)	.	.	0.999986903042585	0.948
18	12859255	T	C	18	12859256	y	y	splicing	PTPN2(NM_080422:exon3:c.70-2A>G;NM_080423:exon3:c.70-2A>G;NM_001207013:exon3:c.70-2A>G;NM_002828:exon3:c.70-2A>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.70-2A>G;ENST00000591115:exon3:c.70-2A>G;ENST00000353319:exon3:c.70-2A>G;ENST00000309660:exon3:c.70-2A>G;ENST00000592776:exon3:c.70-2A>G)	.	.	0.99998174402319	0.946
18	12859255	T	G	18	12859256	y	y	splicing	PTPN2(NM_080422:exon3:c.70-2A>C;NM_080423:exon3:c.70-2A>C;NM_001207013:exon3:c.70-2A>C;NM_002828:exon3:c.70-2A>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon3:c.70-2A>C;ENST00000591115:exon3:c.70-2A>C;ENST00000353319:exon3:c.70-2A>C;ENST00000309660:exon3:c.70-2A>C;ENST00000592776:exon3:c.70-2A>C)	.	.	0.99998174402319	0.946
18	12859256	T	A	18	12859257	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.92903182100014E-5	0.002
18	12859256	T	C	18	12859257	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0287575940525131	0.37
18	12859256	T	G	18	12859257	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.67012320949008E-5	0.02
18	12859257	A	C	18	12859258	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.15494244574129E-4	0.008
18	12859257	A	G	18	12859258	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.62009228085174E-4	0.008
18	12859257	A	T	18	12859258	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.19777335153184E-4	0.014
18	12859258	A	C	18	12859259	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.699860860626009	0.46
18	12859258	A	G	18	12859259	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00218334661842422	0.132
18	12859258	A	T	18	12859259	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.471656508869189	0.372
18	12859259	A	C	18	12859260	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.534761844247682	0.412
18	12859259	A	G	18	12859260	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.35456880566528E-4	0.01
18	12859259	A	T	18	12859260	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.147631809976594	0.338
18	12859260	A	C	18	12859261	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999959752222165	0.994
18	12859260	A	G	18	12859261	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00464073625718493	0.08
18	12859260	A	T	18	12859261	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.277550992562543	0.352
18	12859261	T	A	18	12859262	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.96622368245675E-5	0.008
18	12859261	T	C	18	12859262	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.17732235012389E-5	0.04
18	12859261	T	G	18	12859262	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.96622368245675E-5	0.024
18	12859262	A	C	18	12859263	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.378387382195784	0.478
18	12859262	A	G	18	12859263	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00140684223403217	0.09
18	12859262	A	T	18	12859263	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.39027028104986	0.47
18	12859263	A	C	18	12859264	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0328773456069666	0.318
18	12859263	A	G	18	12859264	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	2.5363153353019E-4	0.042
18	12859263	A	T	18	12859264	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0257185090149306	0.314
18	12859264	C	A	18	12859265	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	3.3791105782298E-5	0.044
18	12859264	C	G	18	12859265	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.97806656564657E-5	0.01
18	12859264	C	T	18	12859265	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.93183775488333E-5	0.024
18	12859265	A	C	18	12859266	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.339377319928347	0.518
18	12859265	A	G	18	12859266	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.0019462102755228	0.102
18	12859265	A	T	18	12859266	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999945966328427	0.968
18	12884064	C	A	18	12884065	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.0680089989629E-5	0.0
18	12884064	C	G	18	12884065	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.0680089989629E-5	0.0
18	12884064	C	T	18	12884065	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	4.0680089989629E-5	0.0
18	12884065	G	A	18	12884066	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	8.02896882558266E-5	0.0
18	12884065	G	C	18	12884066	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	1.01267931461726E-4	0.0
18	12884065	G	T	18	12884066	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	5.35324685739976E-5	0.0
18	12884066	A	C	18	12884067	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.323866534224361	0.416
18	12884066	A	G	18	12884067	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.64272259696883	0.342
18	12884066	A	T	18	12884067	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.825670109759504	0.55
18	12884067	C	A	18	12884068	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999989466346316	0.984
18	12884067	C	G	18	12884068	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.99997165616157	0.954
18	12884067	C	T	18	12884068	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.999983891183153	0.992
18	12884068	T	A	18	12884069	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.997420855350417	0.768
18	12884068	T	C	18	12884069	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.98902974681858	0.696
18	12884068	T	G	18	12884069	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.990582520922396	0.774
18	12884069	C	A	18	12884070	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.920426232253715	0.66
18	12884069	C	G	18	12884070	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.982455993853686	0.72
18	12884069	C	T	18	12884070	y	y	intronic	PTPN2	.	.	intronic	ENSG00000175354	.	.	0.00329507326137702	0.008
18	12884070	A	C	18	12884071	y	y	splicing	PTPN2(NM_080422:exon2:c.69+2T>G;NM_080423:exon2:c.69+2T>G;NM_001207013:exon2:c.69+2T>G;NM_002828:exon2:c.69+2T>G)	.	.	splicing	ENSG00000175354(ENST00000327283:exon2:c.69+2T>G;ENST00000591115:exon2:c.69+2T>G;ENST00000353319:exon2:c.69+2T>G;ENST00000309660:exon2:c.69+2T>G;ENST00000591305:exon2:c.69+2T>G;ENST00000592776:exon2:c.69+2T>G;ENST00000589216:exon2:c.69+2T>G)	.	.	0.999990318658069	0.928
18	12884070	A	G	18	12884071	y	y	splicing	PTPN2(NM_080422:exon2:c.69+2T>C;NM_080423:exon2:c.69+2T>C;NM_001207013:exon2:c.69+2T>C;NM_002828:exon2:c.69+2T>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon2:c.69+2T>C;ENST00000591115:exon2:c.69+2T>C;ENST00000353319:exon2:c.69+2T>C;ENST00000309660:exon2:c.69+2T>C;ENST00000591305:exon2:c.69+2T>C;ENST00000592776:exon2:c.69+2T>C;ENST00000589216:exon2:c.69+2T>C)	.	.	0.999928615423354	0.846
18	12884070	A	T	18	12884071	y	y	splicing	PTPN2(NM_080422:exon2:c.69+2T>A;NM_080423:exon2:c.69+2T>A;NM_001207013:exon2:c.69+2T>A;NM_002828:exon2:c.69+2T>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon2:c.69+2T>A;ENST00000591115:exon2:c.69+2T>A;ENST00000353319:exon2:c.69+2T>A;ENST00000309660:exon2:c.69+2T>A;ENST00000591305:exon2:c.69+2T>A;ENST00000592776:exon2:c.69+2T>A;ENST00000589216:exon2:c.69+2T>A)	.	.	0.999990644983658	0.932
18	12884071	C	A	18	12884072	y	y	splicing	PTPN2(NM_080422:exon2:c.69+1G>T;NM_080423:exon2:c.69+1G>T;NM_001207013:exon2:c.69+1G>T;NM_002828:exon2:c.69+1G>T)	.	.	splicing	ENSG00000175354(ENST00000327283:exon2:c.69+1G>T;ENST00000591115:exon2:c.69+1G>T;ENST00000353319:exon2:c.69+1G>T;ENST00000309660:exon2:c.69+1G>T;ENST00000591305:exon2:c.69+1G>T;ENST00000592776:exon2:c.69+1G>T;ENST00000589216:exon2:c.69+1G>T)	.	.	0.999984274955786	0.882
18	12884071	C	G	18	12884072	y	y	splicing	PTPN2(NM_080422:exon2:c.69+1G>C;NM_080423:exon2:c.69+1G>C;NM_001207013:exon2:c.69+1G>C;NM_002828:exon2:c.69+1G>C)	.	.	splicing	ENSG00000175354(ENST00000327283:exon2:c.69+1G>C;ENST00000591115:exon2:c.69+1G>C;ENST00000353319:exon2:c.69+1G>C;ENST00000309660:exon2:c.69+1G>C;ENST00000591305:exon2:c.69+1G>C;ENST00000592776:exon2:c.69+1G>C;ENST00000589216:exon2:c.69+1G>C)	.	.	0.999990611969007	0.898
18	12884071	C	T	18	12884072	y	y	splicing	PTPN2(NM_080422:exon2:c.69+1G>A;NM_080423:exon2:c.69+1G>A;NM_001207013:exon2:c.69+1G>A;NM_002828:exon2:c.69+1G>A)	.	.	splicing	ENSG00000175354(ENST00000327283:exon2:c.69+1G>A;ENST00000591115:exon2:c.69+1G>A;ENST00000353319:exon2:c.69+1G>A;ENST00000309660:exon2:c.69+1G>A;ENST00000591305:exon2:c.69+1G>A;ENST00000592776:exon2:c.69+1G>A;ENST00000589216:exon2:c.69+1G>A)	.	.	0.999988390207502	0.932
18	12884072	C	A	18	12884073	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon1:c.G69T:p.L23F;PTPN2:NM_001207013:exon1:c.G69T:p.L23F;PTPN2:NM_080422:exon1:c.G69T:p.L23F;PTPN2:NM_002828:exon1:c.G69T:p.L23F;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon1:c.G69T:p.L23F;ENSG00000175354:ENST00000327283:exon1:c.G69T:p.L23F;ENSG00000175354:ENST00000309660:exon1:c.G69T:p.L23F;ENSG00000175354:ENST00000589216:exon1:c.G69T:p.L23F;ENSG00000175354:ENST00000353319:exon1:c.G69T:p.L23F;ENSG00000175354:ENST00000592776:exon1:c.G69T:p.L23F;ENSG00000175354:ENST00000591305:exon1:c.G69T:p.L23F;	0.99975847839771	0.922
18	12884072	C	G	18	12884073	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon1:c.G69C:p.L23F;PTPN2:NM_001207013:exon1:c.G69C:p.L23F;PTPN2:NM_080422:exon1:c.G69C:p.L23F;PTPN2:NM_002828:exon1:c.G69C:p.L23F;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon1:c.G69C:p.L23F;ENSG00000175354:ENST00000327283:exon1:c.G69C:p.L23F;ENSG00000175354:ENST00000309660:exon1:c.G69C:p.L23F;ENSG00000175354:ENST00000589216:exon1:c.G69C:p.L23F;ENSG00000175354:ENST00000353319:exon1:c.G69C:p.L23F;ENSG00000175354:ENST00000592776:exon1:c.G69C:p.L23F;ENSG00000175354:ENST00000591305:exon1:c.G69C:p.L23F;	0.999840872847526	0.748
18	12884072	C	T	18	12884073	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon1:c.G69A:p.L23L;PTPN2:NM_001207013:exon1:c.G69A:p.L23L;PTPN2:NM_080422:exon1:c.G69A:p.L23L;PTPN2:NM_002828:exon1:c.G69A:p.L23L;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon1:c.G69A:p.L23L;ENSG00000175354:ENST00000327283:exon1:c.G69A:p.L23L;ENSG00000175354:ENST00000309660:exon1:c.G69A:p.L23L;ENSG00000175354:ENST00000589216:exon1:c.G69A:p.L23L;ENSG00000175354:ENST00000353319:exon1:c.G69A:p.L23L;ENSG00000175354:ENST00000592776:exon1:c.G69A:p.L23L;ENSG00000175354:ENST00000591305:exon1:c.G69A:p.L23L;	0.999888882199552	0.932
18	12884073	A	C	18	12884074	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon1:c.T68G:p.L23W;PTPN2:NM_001207013:exon1:c.T68G:p.L23W;PTPN2:NM_080422:exon1:c.T68G:p.L23W;PTPN2:NM_002828:exon1:c.T68G:p.L23W;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon1:c.T68G:p.L23W;ENSG00000175354:ENST00000327283:exon1:c.T68G:p.L23W;ENSG00000175354:ENST00000309660:exon1:c.T68G:p.L23W;ENSG00000175354:ENST00000589216:exon1:c.T68G:p.L23W;ENSG00000175354:ENST00000353319:exon1:c.T68G:p.L23W;ENSG00000175354:ENST00000592776:exon1:c.T68G:p.L23W;ENSG00000175354:ENST00000591305:exon1:c.T68G:p.L23W;	0.0264143216219629	0.238
18	12884073	A	G	18	12884074	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon1:c.T68C:p.L23S;PTPN2:NM_001207013:exon1:c.T68C:p.L23S;PTPN2:NM_080422:exon1:c.T68C:p.L23S;PTPN2:NM_002828:exon1:c.T68C:p.L23S;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon1:c.T68C:p.L23S;ENSG00000175354:ENST00000327283:exon1:c.T68C:p.L23S;ENSG00000175354:ENST00000309660:exon1:c.T68C:p.L23S;ENSG00000175354:ENST00000589216:exon1:c.T68C:p.L23S;ENSG00000175354:ENST00000353319:exon1:c.T68C:p.L23S;ENSG00000175354:ENST00000592776:exon1:c.T68C:p.L23S;ENSG00000175354:ENST00000591305:exon1:c.T68C:p.L23S;	0.00133560046651817	0.092
18	12884073	A	T	18	12884074	y	y	exonic	PTPN2	stopgain SNV	PTPN2:NM_080423:exon1:c.T68A:p.L23X;PTPN2:NM_001207013:exon1:c.T68A:p.L23X;PTPN2:NM_080422:exon1:c.T68A:p.L23X;PTPN2:NM_002828:exon1:c.T68A:p.L23X;	exonic	ENSG00000175354	stopgain SNV	ENSG00000175354:ENST00000591115:exon1:c.T68A:p.L23X;ENSG00000175354:ENST00000327283:exon1:c.T68A:p.L23X;ENSG00000175354:ENST00000309660:exon1:c.T68A:p.L23X;ENSG00000175354:ENST00000589216:exon1:c.T68A:p.L23X;ENSG00000175354:ENST00000353319:exon1:c.T68A:p.L23X;ENSG00000175354:ENST00000592776:exon1:c.T68A:p.L23X;ENSG00000175354:ENST00000591305:exon1:c.T68A:p.L23X;	0.413009791701151	0.54
18	12884074	A	C	18	12884075	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon1:c.T67G:p.L23V;PTPN2:NM_001207013:exon1:c.T67G:p.L23V;PTPN2:NM_080422:exon1:c.T67G:p.L23V;PTPN2:NM_002828:exon1:c.T67G:p.L23V;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon1:c.T67G:p.L23V;ENSG00000175354:ENST00000327283:exon1:c.T67G:p.L23V;ENSG00000175354:ENST00000309660:exon1:c.T67G:p.L23V;ENSG00000175354:ENST00000589216:exon1:c.T67G:p.L23V;ENSG00000175354:ENST00000353319:exon1:c.T67G:p.L23V;ENSG00000175354:ENST00000592776:exon1:c.T67G:p.L23V;ENSG00000175354:ENST00000591305:exon1:c.T67G:p.L23V;	8.93305003933609E-5	0.018
18	12884074	A	G	18	12884075	y	y	exonic	PTPN2	synonymous SNV	PTPN2:NM_080423:exon1:c.T67C:p.L23L;PTPN2:NM_001207013:exon1:c.T67C:p.L23L;PTPN2:NM_080422:exon1:c.T67C:p.L23L;PTPN2:NM_002828:exon1:c.T67C:p.L23L;	exonic	ENSG00000175354	synonymous SNV	ENSG00000175354:ENST00000591115:exon1:c.T67C:p.L23L;ENSG00000175354:ENST00000327283:exon1:c.T67C:p.L23L;ENSG00000175354:ENST00000309660:exon1:c.T67C:p.L23L;ENSG00000175354:ENST00000589216:exon1:c.T67C:p.L23L;ENSG00000175354:ENST00000353319:exon1:c.T67C:p.L23L;ENSG00000175354:ENST00000592776:exon1:c.T67C:p.L23L;ENSG00000175354:ENST00000591305:exon1:c.T67C:p.L23L;	6.33497969365268E-5	0.006
18	12884074	A	T	18	12884075	y	y	exonic	PTPN2	nonsynonymous SNV	PTPN2:NM_080423:exon1:c.T67A:p.L23M;PTPN2:NM_001207013:exon1:c.T67A:p.L23M;PTPN2:NM_080422:exon1:c.T67A:p.L23M;PTPN2:NM_002828:exon1:c.T67A:p.L23M;	exonic	ENSG00000175354	nonsynonymous SNV	ENSG00000175354:ENST00000591115:exon1:c.T67A:p.L23M;ENSG00000175354:ENST00000327283:exon1:c.T67A:p.L23M;ENSG00000175354:ENST00000309660:exon1:c.T67A:p.L23M;ENSG00000175354:ENST00000589216:exon1:c.T67A:p.L23M;ENSG00000175354:ENST00000353319:exon1:c.T67A:p.L23M;ENSG00000175354:ENST00000592776:exon1:c.T67A:p.L23M;ENSG00000175354:ENST00000591305:exon1:c.T67A:p.L23M;	4.30635776054303E-5	0.004
18	12947623	C	A	18	12947624	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	1.86269840649936E-5	0.004
18	12947623	C	G	18	12947624	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	1.86269840649936E-5	0.004
18	12947623	C	T	18	12947624	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	1.86269840649936E-5	0.002
18	12947624	A	C	18	12947625	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	8.49702646665041E-5	0.032
18	12947624	A	G	18	12947625	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	8.49702646665041E-5	0.104
18	12947624	A	T	18	12947625	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	6.35428655471156E-5	0.008
18	12947625	G	A	18	12947626	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	2.46619449921589E-5	0.002
18	12947625	G	C	18	12947626	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	2.46619449921589E-5	0.004
18	12947625	G	T	18	12947626	n	y	upstream	SEH1L	.	.	UTR5	ENSG00000085415	.	.	2.46619449921589E-5	0.004
18	12947626	G	A	18	12947627	n	y	upstream	SEH1L	.	.	splicing	ENSG00000085415	.	.	5.5529151830241E-5	0.0
18	12947626	G	C	18	12947627	n	y	upstream	SEH1L	.	.	splicing	ENSG00000085415	.	.	7.42544334184685E-5	0.096
18	12947626	G	T	18	12947627	n	y	upstream	SEH1L	.	.	splicing	ENSG00000085415	.	.	5.5529151830241E-5	0.0
18	12947627	T	A	18	12947628	n	y	upstream	SEH1L	.	.	splicing	ENSG00000085415	.	.	1.11389651227104E-4	0.002
18	12947627	T	C	18	12947628	n	y	upstream	SEH1L	.	.	splicing	ENSG00000085415	.	.	1.00925306948278E-4	0.002
18	12947627	T	G	18	12947628	n	y	upstream	SEH1L	.	.	splicing	ENSG00000085415	.	.	1.00925306948278E-4	0.002
18	12947628	A	C	18	12947629	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.15941453541388E-5	0.002
18	12947628	A	G	18	12947629	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.15941453541388E-5	0.002
18	12947628	A	T	18	12947629	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.15941453541388E-5	0.002
18	12947629	A	C	18	12947630	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.82827935381688E-5	0.002
18	12947629	A	G	18	12947630	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.82827935381688E-5	0.002
18	12947629	A	T	18	12947630	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.82827935381688E-5	0.0
18	12947630	C	A	18	12947631	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.32880881212684E-4	0.022
18	12947630	C	G	18	12947631	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.32880881212684E-4	0.028
18	12947630	C	T	18	12947631	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.32880881212684E-4	0.022
18	12947631	T	A	18	12947632	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.24297241394797E-4	0.006
18	12947631	T	C	18	12947632	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.83891202920338E-5	0.006
18	12947631	T	G	18	12947632	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.83891202920338E-5	0.006
18	12947632	C	A	18	12947633	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.89925739660516E-5	0.006
18	12947632	C	G	18	12947633	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.89925739660516E-5	0.006
18	12947632	C	T	18	12947633	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.89925739660516E-5	0.008
18	12947633	G	A	18	12947634	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.49702646665041E-5	0.006
18	12947633	G	C	18	12947634	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.49702646665041E-5	0.004
18	12947633	G	T	18	12947634	n	y	upstream	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.49702646665041E-5	0.004
18	12948229	A	C	18	12948230	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon1:c.A109C:p.K37Q;SEH1L:NM_001013437:exon1:c.A109C:p.K37Q;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon1:c.A109C:p.K37Q;ENSG00000085415:ENST00000262124:exon1:c.A109C:p.K37Q;ENSG00000085415:ENST00000592170:exon2:c.A31C:p.K11Q;ENSG00000085415:ENST00000587761:exon1:c.A109C:p.K37Q;ENSG00000085415:ENST00000589446:exon1:c.A109C:p.K37Q;ENSG00000085415:ENST00000399892:exon1:c.A109C:p.K37Q;	0.304115642963713	0.482
18	12948229	A	G	18	12948230	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon1:c.A109G:p.K37E;SEH1L:NM_001013437:exon1:c.A109G:p.K37E;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon1:c.A109G:p.K37E;ENSG00000085415:ENST00000262124:exon1:c.A109G:p.K37E;ENSG00000085415:ENST00000592170:exon2:c.A31G:p.K11E;ENSG00000085415:ENST00000587761:exon1:c.A109G:p.K37E;ENSG00000085415:ENST00000589446:exon1:c.A109G:p.K37E;ENSG00000085415:ENST00000399892:exon1:c.A109G:p.K37E;	0.109625889736496	0.32
18	12948229	A	T	18	12948230	y	y	exonic	SEH1L	stopgain SNV	SEH1L:NM_031216:exon1:c.A109T:p.K37X;SEH1L:NM_001013437:exon1:c.A109T:p.K37X;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000585730:exon1:c.A109T:p.K37X;ENSG00000085415:ENST00000262124:exon1:c.A109T:p.K37X;ENSG00000085415:ENST00000592170:exon2:c.A31T:p.K11X;ENSG00000085415:ENST00000587761:exon1:c.A109T:p.K37X;ENSG00000085415:ENST00000589446:exon1:c.A109T:p.K37X;ENSG00000085415:ENST00000399892:exon1:c.A109T:p.K37X;	0.980395256301788	0.808
18	12948230	A	C	18	12948231	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon1:c.A110C:p.K37T;SEH1L:NM_001013437:exon1:c.A110C:p.K37T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon1:c.A110C:p.K37T;ENSG00000085415:ENST00000262124:exon1:c.A110C:p.K37T;ENSG00000085415:ENST00000592170:exon2:c.A32C:p.K11T;ENSG00000085415:ENST00000587761:exon1:c.A110C:p.K37T;ENSG00000085415:ENST00000589446:exon1:c.A110C:p.K37T;ENSG00000085415:ENST00000399892:exon1:c.A110C:p.K37T;	0.996707080272893	0.836
18	12948230	A	G	18	12948231	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon1:c.A110G:p.K37R;SEH1L:NM_001013437:exon1:c.A110G:p.K37R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon1:c.A110G:p.K37R;ENSG00000085415:ENST00000262124:exon1:c.A110G:p.K37R;ENSG00000085415:ENST00000592170:exon2:c.A32G:p.K11R;ENSG00000085415:ENST00000587761:exon1:c.A110G:p.K37R;ENSG00000085415:ENST00000589446:exon1:c.A110G:p.K37R;ENSG00000085415:ENST00000399892:exon1:c.A110G:p.K37R;	0.998917891723681	0.914
18	12948230	A	T	18	12948231	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon1:c.A110T:p.K37M;SEH1L:NM_001013437:exon1:c.A110T:p.K37M;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon1:c.A110T:p.K37M;ENSG00000085415:ENST00000262124:exon1:c.A110T:p.K37M;ENSG00000085415:ENST00000592170:exon2:c.A32T:p.K11M;ENSG00000085415:ENST00000587761:exon1:c.A110T:p.K37M;ENSG00000085415:ENST00000589446:exon1:c.A110T:p.K37M;ENSG00000085415:ENST00000399892:exon1:c.A110T:p.K37M;	0.998858867738992	0.91
18	12948231	G	A	18	12948232	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon1:c.G111A:p.K37K;SEH1L:NM_001013437:exon1:c.G111A:p.K37K;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon1:c.G111A:p.K37K;ENSG00000085415:ENST00000262124:exon1:c.G111A:p.K37K;ENSG00000085415:ENST00000592170:exon2:c.G33A:p.K11K;ENSG00000085415:ENST00000587761:exon1:c.G111A:p.K37K;ENSG00000085415:ENST00000589446:exon1:c.G111A:p.K37K;ENSG00000085415:ENST00000399892:exon1:c.G111A:p.K37K;	0.999906267780228	0.994
18	12948231	G	C	18	12948232	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon1:c.G111C:p.K37N;SEH1L:NM_001013437:exon1:c.G111C:p.K37N;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon1:c.G111C:p.K37N;ENSG00000085415:ENST00000262124:exon1:c.G111C:p.K37N;ENSG00000085415:ENST00000592170:exon2:c.G33C:p.K11N;ENSG00000085415:ENST00000587761:exon1:c.G111C:p.K37N;ENSG00000085415:ENST00000589446:exon1:c.G111C:p.K37N;ENSG00000085415:ENST00000399892:exon1:c.G111C:p.K37N;	0.999990385118884	0.936
18	12948231	G	T	18	12948232	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon1:c.G111T:p.K37N;SEH1L:NM_001013437:exon1:c.G111T:p.K37N;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon1:c.G111T:p.K37N;ENSG00000085415:ENST00000262124:exon1:c.G111T:p.K37N;ENSG00000085415:ENST00000592170:exon2:c.G33T:p.K11N;ENSG00000085415:ENST00000587761:exon1:c.G111T:p.K37N;ENSG00000085415:ENST00000589446:exon1:c.G111T:p.K37N;ENSG00000085415:ENST00000399892:exon1:c.G111T:p.K37N;	0.999981553489058	0.962
18	12948232	G	A	18	12948233	y	y	splicing	SEH1L(NM_031216:exon1:c.111+1G>A;NM_001013437:exon1:c.111+1G>A)	.	.	splicing	ENSG00000085415(ENST00000592170:exon2:c.33+1G>A;ENST00000262124:exon1:c.111+1G>A;ENST00000585730:exon1:c.111+1G>A;ENST00000399892:exon1:c.111+1G>A;ENST00000589446:exon1:c.111+1G>A;ENST00000587761:exon1:c.111+1G>A)	.	.	0.999993519952936	0.93
18	12948232	G	C	18	12948233	y	y	splicing	SEH1L(NM_031216:exon1:c.111+1G>C;NM_001013437:exon1:c.111+1G>C)	.	.	splicing	ENSG00000085415(ENST00000592170:exon2:c.33+1G>C;ENST00000262124:exon1:c.111+1G>C;ENST00000585730:exon1:c.111+1G>C;ENST00000399892:exon1:c.111+1G>C;ENST00000589446:exon1:c.111+1G>C;ENST00000587761:exon1:c.111+1G>C)	.	.	0.999993519952936	0.93
18	12948232	G	T	18	12948233	y	y	splicing	SEH1L(NM_031216:exon1:c.111+1G>T;NM_001013437:exon1:c.111+1G>T)	.	.	splicing	ENSG00000085415(ENST00000592170:exon2:c.33+1G>T;ENST00000262124:exon1:c.111+1G>T;ENST00000585730:exon1:c.111+1G>T;ENST00000399892:exon1:c.111+1G>T;ENST00000589446:exon1:c.111+1G>T;ENST00000587761:exon1:c.111+1G>T)	.	.	0.999993519952936	0.93
18	12948233	T	A	18	12948234	y	y	splicing	SEH1L(NM_031216:exon1:c.111+2T>A;NM_001013437:exon1:c.111+2T>A)	.	.	splicing	ENSG00000085415(ENST00000592170:exon2:c.33+2T>A;ENST00000262124:exon1:c.111+2T>A;ENST00000585730:exon1:c.111+2T>A;ENST00000399892:exon1:c.111+2T>A;ENST00000589446:exon1:c.111+2T>A;ENST00000587761:exon1:c.111+2T>A)	.	.	0.999993672935256	0.928
18	12948233	T	C	18	12948234	y	y	splicing	SEH1L(NM_031216:exon1:c.111+2T>C;NM_001013437:exon1:c.111+2T>C)	.	.	splicing	ENSG00000085415(ENST00000592170:exon2:c.33+2T>C;ENST00000262124:exon1:c.111+2T>C;ENST00000585730:exon1:c.111+2T>C;ENST00000399892:exon1:c.111+2T>C;ENST00000589446:exon1:c.111+2T>C;ENST00000587761:exon1:c.111+2T>C)	.	.	0.999959541454763	0.858
18	12948233	T	G	18	12948234	y	y	splicing	SEH1L(NM_031216:exon1:c.111+2T>G;NM_001013437:exon1:c.111+2T>G)	.	.	splicing	ENSG00000085415(ENST00000592170:exon2:c.33+2T>G;ENST00000262124:exon1:c.111+2T>G;ENST00000585730:exon1:c.111+2T>G;ENST00000399892:exon1:c.111+2T>G;ENST00000589446:exon1:c.111+2T>G;ENST00000587761:exon1:c.111+2T>G)	.	.	0.999993672935256	0.928
18	12948234	G	A	18	12948235	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.5383265133124E-4	0.002
18	12948234	G	C	18	12948235	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.904232718938462	0.668
18	12948234	G	T	18	12948235	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.624020349116098	0.63
18	12948235	C	A	18	12948236	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.81164562388971E-4	0.084
18	12948235	C	G	18	12948236	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.49668072721956E-4	0.182
18	12948235	C	T	18	12948236	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00315943441683278	0.042
18	12948236	G	A	18	12948237	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999937427435489	0.994
18	12948236	G	C	18	12948237	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999336227205919	0.962
18	12948236	G	T	18	12948237	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999858098788259	0.956
18	12948237	C	A	18	12948238	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00695011787613404	0.04
18	12948237	C	G	18	12948238	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00187325973429973	0.06
18	12948237	C	T	18	12948238	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.10898658159088E-4	0.022
18	12948238	G	A	18	12948239	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.08235426454643E-4	0.004
18	12948238	G	C	18	12948239	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	9.47174970233348E-5	0.0
18	12948238	G	T	18	12948239	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.52671947451526E-4	0.002
18	12948239	C	A	18	12948240	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0013999428699602	0.04
18	12948239	C	G	18	12948240	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00170144605167387	0.022
18	12948239	C	T	18	12948240	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00244541409101803	0.222
18	12951842	A	C	18	12951843	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.37461406398387E-5	0.004
18	12951842	A	G	18	12951843	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.52695490184118E-4	0.012
18	12951842	A	T	18	12951843	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	9.54596533496333E-5	0.008
18	12951843	T	A	18	12951844	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	9.24690656168687E-4	0.112
18	12951843	T	C	18	12951844	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.72825342403444E-4	0.014
18	12951843	T	G	18	12951844	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.997815591287808	0.878
18	12951844	T	A	18	12951845	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.45239996662275E-4	0.076
18	12951844	T	C	18	12951845	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.65441869975017E-4	0.006
18	12951844	T	G	18	12951845	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.21419411925821E-4	0.114
18	12951845	T	A	18	12951846	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00102591403082817	0.27
18	12951845	T	C	18	12951846	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00105480353495	0.062
18	12951845	T	G	18	12951846	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00148624936078041	0.314
18	12951846	T	A	18	12951847	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.99782297037345E-4	0.054
18	12951846	T	C	18	12951847	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.8985579959143E-4	0.02
18	12951846	T	G	18	12951847	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.99782297037345E-4	0.056
18	12951847	C	A	18	12951848	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.40777678892772E-5	0.036
18	12951847	C	G	18	12951848	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.76816914329086E-5	0.024
18	12951847	C	T	18	12951848	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	9.89359732065052E-6	0.0
18	12951848	T	A	18	12951849	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.16717158011566E-4	0.03
18	12951848	T	C	18	12951849	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.22803426744584E-4	0.002
18	12951848	T	G	18	12951849	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.26749673836497E-4	0.102
18	12951849	T	A	18	12951850	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.57250018626698E-4	0.244
18	12951849	T	C	18	12951850	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.60155993622637E-4	0.07
18	12951849	T	G	18	12951850	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.77568192765614E-4	0.248
18	12951850	A	C	18	12951851	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.59521820166522E-5	0.002
18	12951850	A	G	18	12951851	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.47852714004734E-5	0.004
18	12951850	A	T	18	12951851	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.53578161859739E-5	0.0
18	12951851	T	A	18	12951852	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.36686128918915E-5	0.028
18	12951851	T	C	18	12951852	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.50121335426471E-5	0.002
18	12951851	T	G	18	12951852	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.203330468091286	0.436
18	12951852	A	C	18	12951853	y	y	splicing	SEH1L(NM_031216:exon2:c.112-2A>C;NM_001013437:exon2:c.112-2A>C)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.34-2A>C;ENST00000262124:exon2:c.112-2A>C;ENST00000585730:exon2:c.112-2A>C;ENST00000399892:exon2:c.112-2A>C;ENST00000587761:exon2:c.112-2A>C)	.	.	0.99996509239462	0.944
18	12951852	A	G	18	12951853	y	y	splicing	SEH1L(NM_031216:exon2:c.112-2A>G;NM_001013437:exon2:c.112-2A>G)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.34-2A>G;ENST00000262124:exon2:c.112-2A>G;ENST00000585730:exon2:c.112-2A>G;ENST00000399892:exon2:c.112-2A>G;ENST00000587761:exon2:c.112-2A>G)	.	.	0.99996509239462	0.944
18	12951852	A	T	18	12951853	y	y	splicing	SEH1L(NM_031216:exon2:c.112-2A>T;NM_001013437:exon2:c.112-2A>T)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.34-2A>T;ENST00000262124:exon2:c.112-2A>T;ENST00000585730:exon2:c.112-2A>T;ENST00000399892:exon2:c.112-2A>T;ENST00000587761:exon2:c.112-2A>T)	.	.	0.99996509239462	0.938
18	12951853	G	A	18	12951854	y	y	splicing	SEH1L(NM_031216:exon2:c.112-1G>A;NM_001013437:exon2:c.112-1G>A)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.34-1G>A;ENST00000262124:exon2:c.112-1G>A;ENST00000585730:exon2:c.112-1G>A;ENST00000399892:exon2:c.112-1G>A;ENST00000587761:exon2:c.112-1G>A)	.	.	0.999978952611685	0.928
18	12951853	G	C	18	12951854	y	y	splicing	SEH1L(NM_031216:exon2:c.112-1G>C;NM_001013437:exon2:c.112-1G>C)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.34-1G>C;ENST00000262124:exon2:c.112-1G>C;ENST00000585730:exon2:c.112-1G>C;ENST00000399892:exon2:c.112-1G>C;ENST00000587761:exon2:c.112-1G>C)	.	.	0.999970661931818	0.922
18	12951853	G	T	18	12951854	y	y	splicing	SEH1L(NM_031216:exon2:c.112-1G>T;NM_001013437:exon2:c.112-1G>T)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.34-1G>T;ENST00000262124:exon2:c.112-1G>T;ENST00000585730:exon2:c.112-1G>T;ENST00000399892:exon2:c.112-1G>T;ENST00000587761:exon2:c.112-1G>T)	.	.	0.999978952611685	0.922
18	12951854	G	A	18	12951855	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.G112A:p.V38I;SEH1L:NM_001013437:exon2:c.G112A:p.V38I;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.G112A:p.V38I;ENSG00000085415:ENST00000262124:exon2:c.G112A:p.V38I;ENSG00000085415:ENST00000592170:exon3:c.G34A:p.V12I;ENSG00000085415:ENST00000587761:exon2:c.G112A:p.V38I;ENSG00000085415:ENST00000399892:exon2:c.G112A:p.V38I;	0.992048794286501	0.642
18	12951854	G	C	18	12951855	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.G112C:p.V38L;SEH1L:NM_001013437:exon2:c.G112C:p.V38L;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.G112C:p.V38L;ENSG00000085415:ENST00000262124:exon2:c.G112C:p.V38L;ENSG00000085415:ENST00000592170:exon3:c.G34C:p.V12L;ENSG00000085415:ENST00000587761:exon2:c.G112C:p.V38L;ENSG00000085415:ENST00000399892:exon2:c.G112C:p.V38L;	0.997435025732515	0.756
18	12951854	G	T	18	12951855	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.G112T:p.V38F;SEH1L:NM_001013437:exon2:c.G112T:p.V38F;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.G112T:p.V38F;ENSG00000085415:ENST00000262124:exon2:c.G112T:p.V38F;ENSG00000085415:ENST00000592170:exon3:c.G34T:p.V12F;ENSG00000085415:ENST00000587761:exon2:c.G112T:p.V38F;ENSG00000085415:ENST00000399892:exon2:c.G112T:p.V38F;	0.998263129156404	0.792
18	12951855	T	A	18	12951856	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.T113A:p.V38D;SEH1L:NM_001013437:exon2:c.T113A:p.V38D;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.T113A:p.V38D;ENSG00000085415:ENST00000262124:exon2:c.T113A:p.V38D;ENSG00000085415:ENST00000592170:exon3:c.T35A:p.V12D;ENSG00000085415:ENST00000587761:exon2:c.T113A:p.V38D;ENSG00000085415:ENST00000399892:exon2:c.T113A:p.V38D;	0.356046883628476	0.424
18	12951855	T	C	18	12951856	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.T113C:p.V38A;SEH1L:NM_001013437:exon2:c.T113C:p.V38A;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.T113C:p.V38A;ENSG00000085415:ENST00000262124:exon2:c.T113C:p.V38A;ENSG00000085415:ENST00000592170:exon3:c.T35C:p.V12A;ENSG00000085415:ENST00000587761:exon2:c.T113C:p.V38A;ENSG00000085415:ENST00000399892:exon2:c.T113C:p.V38A;	0.453631251287442	0.42
18	12951855	T	G	18	12951856	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.T113G:p.V38G;SEH1L:NM_001013437:exon2:c.T113G:p.V38G;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.T113G:p.V38G;ENSG00000085415:ENST00000262124:exon2:c.T113G:p.V38G;ENSG00000085415:ENST00000592170:exon3:c.T35G:p.V12G;ENSG00000085415:ENST00000587761:exon2:c.T113G:p.V38G;ENSG00000085415:ENST00000399892:exon2:c.T113G:p.V38G;	0.342963977129136	0.38
18	12951902	A	C	18	12951903	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.A160C:p.K54Q;SEH1L:NM_001013437:exon2:c.A160C:p.K54Q;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.A160C:p.K54Q;ENSG00000085415:ENST00000262124:exon2:c.A160C:p.K54Q;ENSG00000085415:ENST00000592170:exon3:c.A82C:p.K28Q;ENSG00000085415:ENST00000587761:exon2:c.A160C:p.K54Q;ENSG00000085415:ENST00000399892:exon2:c.A160C:p.K54Q;	0.532982107289586	0.476
18	12951902	A	G	18	12951903	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.A160G:p.K54E;SEH1L:NM_001013437:exon2:c.A160G:p.K54E;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.A160G:p.K54E;ENSG00000085415:ENST00000262124:exon2:c.A160G:p.K54E;ENSG00000085415:ENST00000592170:exon3:c.A82G:p.K28E;ENSG00000085415:ENST00000587761:exon2:c.A160G:p.K54E;ENSG00000085415:ENST00000399892:exon2:c.A160G:p.K54E;	0.190082423240401	0.414
18	12951902	A	T	18	12951903	y	y	exonic	SEH1L	stopgain SNV	SEH1L:NM_031216:exon2:c.A160T:p.K54X;SEH1L:NM_001013437:exon2:c.A160T:p.K54X;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000585730:exon2:c.A160T:p.K54X;ENSG00000085415:ENST00000262124:exon2:c.A160T:p.K54X;ENSG00000085415:ENST00000592170:exon3:c.A82T:p.K28X;ENSG00000085415:ENST00000587761:exon2:c.A160T:p.K54X;ENSG00000085415:ENST00000399892:exon2:c.A160T:p.K54X;	0.943734352947801	0.608
18	12951903	A	C	18	12951904	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.A161C:p.K54T;SEH1L:NM_001013437:exon2:c.A161C:p.K54T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.A161C:p.K54T;ENSG00000085415:ENST00000262124:exon2:c.A161C:p.K54T;ENSG00000085415:ENST00000592170:exon3:c.A83C:p.K28T;ENSG00000085415:ENST00000587761:exon2:c.A161C:p.K54T;ENSG00000085415:ENST00000399892:exon2:c.A161C:p.K54T;	0.991147113806051	0.854
18	12951903	A	G	18	12951904	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.A161G:p.K54R;SEH1L:NM_001013437:exon2:c.A161G:p.K54R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.A161G:p.K54R;ENSG00000085415:ENST00000262124:exon2:c.A161G:p.K54R;ENSG00000085415:ENST00000592170:exon3:c.A83G:p.K28R;ENSG00000085415:ENST00000587761:exon2:c.A161G:p.K54R;ENSG00000085415:ENST00000399892:exon2:c.A161G:p.K54R;	0.999359555742851	0.962
18	12951903	A	T	18	12951904	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.A161T:p.K54M;SEH1L:NM_001013437:exon2:c.A161T:p.K54M;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.A161T:p.K54M;ENSG00000085415:ENST00000262124:exon2:c.A161T:p.K54M;ENSG00000085415:ENST00000592170:exon3:c.A83T:p.K28M;ENSG00000085415:ENST00000587761:exon2:c.A161T:p.K54M;ENSG00000085415:ENST00000399892:exon2:c.A161T:p.K54M;	0.998141506213947	0.948
18	12951904	G	A	18	12951905	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon2:c.G162A:p.K54K;SEH1L:NM_001013437:exon2:c.G162A:p.K54K;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.G162A:p.K54K;ENSG00000085415:ENST00000262124:exon2:c.G162A:p.K54K;ENSG00000085415:ENST00000592170:exon3:c.G84A:p.K28K;ENSG00000085415:ENST00000587761:exon2:c.G162A:p.K54K;ENSG00000085415:ENST00000399892:exon2:c.G162A:p.K54K;	0.999780274805662	0.996
18	12951904	G	C	18	12951905	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.G162C:p.K54N;SEH1L:NM_001013437:exon2:c.G162C:p.K54N;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.G162C:p.K54N;ENSG00000085415:ENST00000262124:exon2:c.G162C:p.K54N;ENSG00000085415:ENST00000592170:exon3:c.G84C:p.K28N;ENSG00000085415:ENST00000587761:exon2:c.G162C:p.K54N;ENSG00000085415:ENST00000399892:exon2:c.G162C:p.K54N;	0.999996966327717	0.998
18	12951904	G	T	18	12951905	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon2:c.G162T:p.K54N;SEH1L:NM_001013437:exon2:c.G162T:p.K54N;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon2:c.G162T:p.K54N;ENSG00000085415:ENST00000262124:exon2:c.G162T:p.K54N;ENSG00000085415:ENST00000592170:exon3:c.G84T:p.K28N;ENSG00000085415:ENST00000587761:exon2:c.G162T:p.K54N;ENSG00000085415:ENST00000399892:exon2:c.G162T:p.K54N;	0.999984377228518	1.0
18	12951905	G	A	18	12951906	y	y	splicing	SEH1L(NM_031216:exon2:c.162+1G>A;NM_001013437:exon2:c.162+1G>A)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.84+1G>A;ENST00000262124:exon2:c.162+1G>A;ENST00000585730:exon2:c.162+1G>A;ENST00000399892:exon2:c.162+1G>A;ENST00000587761:exon2:c.162+1G>A)	.	.	0.999991959366812	0.928
18	12951905	G	C	18	12951906	y	y	splicing	SEH1L(NM_031216:exon2:c.162+1G>C;NM_001013437:exon2:c.162+1G>C)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.84+1G>C;ENST00000262124:exon2:c.162+1G>C;ENST00000585730:exon2:c.162+1G>C;ENST00000399892:exon2:c.162+1G>C;ENST00000587761:exon2:c.162+1G>C)	.	.	0.999991959366812	0.926
18	12951905	G	T	18	12951906	y	y	splicing	SEH1L(NM_031216:exon2:c.162+1G>T;NM_001013437:exon2:c.162+1G>T)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.84+1G>T;ENST00000262124:exon2:c.162+1G>T;ENST00000585730:exon2:c.162+1G>T;ENST00000399892:exon2:c.162+1G>T;ENST00000587761:exon2:c.162+1G>T)	.	.	0.999991959366812	0.926
18	12951906	T	A	18	12951907	y	y	splicing	SEH1L(NM_031216:exon2:c.162+2T>A;NM_001013437:exon2:c.162+2T>A)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.84+2T>A;ENST00000262124:exon2:c.162+2T>A;ENST00000585730:exon2:c.162+2T>A;ENST00000399892:exon2:c.162+2T>A;ENST00000587761:exon2:c.162+2T>A)	.	.	0.999992446697775	0.928
18	12951906	T	C	18	12951907	y	y	splicing	SEH1L(NM_031216:exon2:c.162+2T>C;NM_001013437:exon2:c.162+2T>C)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.84+2T>C;ENST00000262124:exon2:c.162+2T>C;ENST00000585730:exon2:c.162+2T>C;ENST00000399892:exon2:c.162+2T>C;ENST00000587761:exon2:c.162+2T>C)	.	.	0.993808943985639	0.614
18	12951906	T	G	18	12951907	y	y	splicing	SEH1L(NM_031216:exon2:c.162+2T>G;NM_001013437:exon2:c.162+2T>G)	.	.	splicing	ENSG00000085415(ENST00000592170:exon3:c.84+2T>G;ENST00000262124:exon2:c.162+2T>G;ENST00000585730:exon2:c.162+2T>G;ENST00000399892:exon2:c.162+2T>G;ENST00000587761:exon2:c.162+2T>G)	.	.	0.999992446697775	0.928
18	12951907	T	A	18	12951908	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00134703328401662	0.088
18	12951907	T	C	18	12951908	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.62428856265318E-4	0.012
18	12951907	T	G	18	12951908	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.18490986559651E-4	0.07
18	12951908	A	C	18	12951909	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.78942409492314	0.43
18	12951908	A	G	18	12951909	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.765022992010682	0.52
18	12951908	A	T	18	12951909	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.908585436221844	0.5
18	12951909	G	A	18	12951910	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.997171792377781	0.932
18	12951909	G	C	18	12951910	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999773041981959	0.872
18	12951909	G	T	18	12951910	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.995961264123982	0.868
18	12951910	T	A	18	12951911	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.980263813302496	0.59
18	12951910	T	C	18	12951911	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.973061660126776	0.67
18	12951910	T	G	18	12951911	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.898984159664825	0.514
18	12951911	A	C	18	12951912	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.74364292996766E-5	0.002
18	12951911	A	G	18	12951912	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.98309032876607E-5	0.0
18	12951911	A	T	18	12951912	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.6307448623764E-4	0.006
18	12951912	T	A	18	12951913	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.63390615919181E-5	0.006
18	12951912	T	C	18	12951913	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.5126582629844E-5	0.008
18	12951912	T	G	18	12951913	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.01353831670777E-5	0.008
18	12955450	T	A	18	12955451	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.037478064993802	0.346
18	12955450	T	C	18	12955451	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.917582262957E-4	0.052
18	12955450	T	G	18	12955451	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.016273513163301	0.338
18	12955451	T	A	18	12955452	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.980716158600373	0.742
18	12955451	T	C	18	12955452	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.18888109844139E-4	0.012
18	12955451	T	G	18	12955452	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.030750403918045	0.294
18	12955452	G	A	18	12955453	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.16007325825429E-5	0.004
18	12955452	G	C	18	12955453	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.24965689460532E-5	0.0
18	12955452	G	T	18	12955453	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.36550972468188E-5	0.0
18	12955453	A	C	18	12955454	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	9.09740216807318E-6	0.0
18	12955453	A	G	18	12955454	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.48290708674015E-5	0.002
18	12955453	A	T	18	12955454	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.81216475309008E-5	0.0
18	12955454	T	A	18	12955455	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00583999030366949	0.028
18	12955454	T	C	18	12955455	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.62879041113403E-5	0.0
18	12955454	T	G	18	12955455	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.995091284191131	0.948
18	12955455	T	A	18	12955456	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.648866682634169	0.416
18	12955455	T	C	18	12955456	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.21165088508632E-5	0.002
18	12955455	T	G	18	12955456	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.152974443547412	0.22
18	12955456	C	A	18	12955457	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0030386955174642	0.152
18	12955456	C	G	18	12955457	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00381583846351186	0.152
18	12955456	C	T	18	12955457	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.64786782618344E-5	0.0
18	12955457	C	A	18	12955458	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00728579354467979	0.074
18	12955457	C	G	18	12955458	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0333482109077056	0.216
18	12955457	C	T	18	12955458	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.66751457874818E-5	0.004
18	12955458	C	A	18	12955459	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.34733690896339E-5	0.0
18	12955458	C	G	18	12955459	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.38933740622629E-5	0.0
18	12955458	C	T	18	12955459	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.37418265415839E-5	0.004
18	12955459	C	A	18	12955460	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.300148996196093	0.218
18	12955459	C	G	18	12955460	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.99273306199361	0.804
18	12955459	C	T	18	12955460	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.9487991112039E-4	0.02
18	12955460	A	C	18	12955461	y	y	splicing	SEH1L(NM_031216:exon3:c.163-2A>C;NM_001013437:exon3:c.163-2A>C)	.	.	splicing	ENSG00000085415(ENST00000592170:exon4:c.85-2A>C;ENST00000262124:exon3:c.163-2A>C;ENST00000399892:exon3:c.163-2A>C;ENST00000589446:exon2:c.112-2A>C;ENST00000587761:exon3:c.163-2A>C)	.	.	0.99994568797423	0.942
18	12955460	A	G	18	12955461	y	y	splicing	SEH1L(NM_031216:exon3:c.163-2A>G;NM_001013437:exon3:c.163-2A>G)	.	.	splicing	ENSG00000085415(ENST00000592170:exon4:c.85-2A>G;ENST00000262124:exon3:c.163-2A>G;ENST00000399892:exon3:c.163-2A>G;ENST00000589446:exon2:c.112-2A>G;ENST00000587761:exon3:c.163-2A>G)	.	.	0.99994568797423	0.942
18	12955460	A	T	18	12955461	y	y	splicing	SEH1L(NM_031216:exon3:c.163-2A>T;NM_001013437:exon3:c.163-2A>T)	.	.	splicing	ENSG00000085415(ENST00000592170:exon4:c.85-2A>T;ENST00000262124:exon3:c.163-2A>T;ENST00000399892:exon3:c.163-2A>T;ENST00000589446:exon2:c.112-2A>T;ENST00000587761:exon3:c.163-2A>T)	.	.	0.99994568797423	0.938
18	12955461	G	A	18	12955462	y	y	splicing	SEH1L(NM_031216:exon3:c.163-1G>A;NM_001013437:exon3:c.163-1G>A)	.	.	splicing	ENSG00000085415(ENST00000592170:exon4:c.85-1G>A;ENST00000262124:exon3:c.163-1G>A;ENST00000399892:exon3:c.163-1G>A;ENST00000589446:exon2:c.112-1G>A;ENST00000587761:exon3:c.163-1G>A)	.	.	0.999980428708689	0.928
18	12955461	G	C	18	12955462	y	y	splicing	SEH1L(NM_031216:exon3:c.163-1G>C;NM_001013437:exon3:c.163-1G>C)	.	.	splicing	ENSG00000085415(ENST00000592170:exon4:c.85-1G>C;ENST00000262124:exon3:c.163-1G>C;ENST00000399892:exon3:c.163-1G>C;ENST00000589446:exon2:c.112-1G>C;ENST00000587761:exon3:c.163-1G>C)	.	.	0.999949496871441	0.93
18	12955461	G	T	18	12955462	y	y	splicing	SEH1L(NM_031216:exon3:c.163-1G>T;NM_001013437:exon3:c.163-1G>T)	.	.	splicing	ENSG00000085415(ENST00000592170:exon4:c.85-1G>T;ENST00000262124:exon3:c.163-1G>T;ENST00000399892:exon3:c.163-1G>T;ENST00000589446:exon2:c.112-1G>T;ENST00000587761:exon3:c.163-1G>T)	.	.	0.999949496871441	0.928
18	12955462	A	C	18	12955463	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.A163C:p.T55P;SEH1L:NM_001013437:exon3:c.A163C:p.T55P;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.A163C:p.T55P;ENSG00000085415:ENST00000592170:exon4:c.A85C:p.T29P;ENSG00000085415:ENST00000587761:exon3:c.A163C:p.T55P;ENSG00000085415:ENST00000589446:exon2:c.A112C:p.T38P;ENSG00000085415:ENST00000399892:exon3:c.A163C:p.T55P;	0.00364808868876582	0.182
18	12955462	A	G	18	12955463	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.A163G:p.T55A;SEH1L:NM_001013437:exon3:c.A163G:p.T55A;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.A163G:p.T55A;ENSG00000085415:ENST00000592170:exon4:c.A85G:p.T29A;ENSG00000085415:ENST00000587761:exon3:c.A163G:p.T55A;ENSG00000085415:ENST00000589446:exon2:c.A112G:p.T38A;ENSG00000085415:ENST00000399892:exon3:c.A163G:p.T55A;	8.69283580886173E-6	0.0
18	12955462	A	T	18	12955463	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.A163T:p.T55S;SEH1L:NM_001013437:exon3:c.A163T:p.T55S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.A163T:p.T55S;ENSG00000085415:ENST00000592170:exon4:c.A85T:p.T29S;ENSG00000085415:ENST00000587761:exon3:c.A163T:p.T55S;ENSG00000085415:ENST00000589446:exon2:c.A112T:p.T38S;ENSG00000085415:ENST00000399892:exon3:c.A163T:p.T55S;	0.00408736952914644	0.134
18	12955463	C	A	18	12955464	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.C164A:p.T55K;SEH1L:NM_001013437:exon3:c.C164A:p.T55K;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.C164A:p.T55K;ENSG00000085415:ENST00000592170:exon4:c.C86A:p.T29K;ENSG00000085415:ENST00000587761:exon3:c.C164A:p.T55K;ENSG00000085415:ENST00000589446:exon2:c.C113A:p.T38K;ENSG00000085415:ENST00000399892:exon3:c.C164A:p.T55K;	0.997622068408168	0.88
18	12955463	C	G	18	12955464	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.C164G:p.T55R;SEH1L:NM_001013437:exon3:c.C164G:p.T55R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.C164G:p.T55R;ENSG00000085415:ENST00000592170:exon4:c.C86G:p.T29R;ENSG00000085415:ENST00000587761:exon3:c.C164G:p.T55R;ENSG00000085415:ENST00000589446:exon2:c.C113G:p.T38R;ENSG00000085415:ENST00000399892:exon3:c.C164G:p.T55R;	0.994450593038865	0.832
18	12955463	C	T	18	12955464	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.C164T:p.T55I;SEH1L:NM_001013437:exon3:c.C164T:p.T55I;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.C164T:p.T55I;ENSG00000085415:ENST00000592170:exon4:c.C86T:p.T29I;ENSG00000085415:ENST00000587761:exon3:c.C164T:p.T55I;ENSG00000085415:ENST00000589446:exon2:c.C113T:p.T38I;ENSG00000085415:ENST00000399892:exon3:c.C164T:p.T55I;	0.975168128299685	0.826
18	12955606	T	A	18	12955607	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.T307A:p.W103R;SEH1L:NM_001013437:exon3:c.T307A:p.W103R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.T307A:p.W103R;ENSG00000085415:ENST00000592170:exon4:c.T229A:p.W77R;ENSG00000085415:ENST00000587761:exon3:c.T307A:p.W103R;ENSG00000085415:ENST00000589446:exon2:c.T256A:p.W86R;ENSG00000085415:ENST00000399892:exon3:c.T307A:p.W103R;	0.720529420118802	0.634
18	12955606	T	C	18	12955607	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.T307C:p.W103R;SEH1L:NM_001013437:exon3:c.T307C:p.W103R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.T307C:p.W103R;ENSG00000085415:ENST00000592170:exon4:c.T229C:p.W77R;ENSG00000085415:ENST00000587761:exon3:c.T307C:p.W103R;ENSG00000085415:ENST00000589446:exon2:c.T256C:p.W86R;ENSG00000085415:ENST00000399892:exon3:c.T307C:p.W103R;	0.743079865496101	0.596
18	12955606	T	G	18	12955607	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.T307G:p.W103G;SEH1L:NM_001013437:exon3:c.T307G:p.W103G;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.T307G:p.W103G;ENSG00000085415:ENST00000592170:exon4:c.T229G:p.W77G;ENSG00000085415:ENST00000587761:exon3:c.T307G:p.W103G;ENSG00000085415:ENST00000589446:exon2:c.T256G:p.W86G;ENSG00000085415:ENST00000399892:exon3:c.T307G:p.W103G;	0.841162123839017	0.75
18	12955607	G	A	18	12955608	y	n	exonic	SEH1L	stopgain SNV	SEH1L:NM_031216:exon3:c.G308A:p.W103X;SEH1L:NM_001013437:exon3:c.G308A:p.W103X;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000262124:exon3:c.G308A:p.W103X;ENSG00000085415:ENST00000592170:exon4:c.G230A:p.W77X;ENSG00000085415:ENST00000587761:exon3:c.G308A:p.W103X;ENSG00000085415:ENST00000589446:exon2:c.G257A:p.W86X;ENSG00000085415:ENST00000399892:exon3:c.G308A:p.W103X;	0.978076077262064	0.646
18	12955607	G	C	18	12955608	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.G308C:p.W103S;SEH1L:NM_001013437:exon3:c.G308C:p.W103S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.G308C:p.W103S;ENSG00000085415:ENST00000592170:exon4:c.G230C:p.W77S;ENSG00000085415:ENST00000587761:exon3:c.G308C:p.W103S;ENSG00000085415:ENST00000589446:exon2:c.G257C:p.W86S;ENSG00000085415:ENST00000399892:exon3:c.G308C:p.W103S;	0.992086057781037	0.852
18	12955607	G	T	18	12955608	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.G308T:p.W103L;SEH1L:NM_001013437:exon3:c.G308T:p.W103L;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.G308T:p.W103L;ENSG00000085415:ENST00000592170:exon4:c.G230T:p.W77L;ENSG00000085415:ENST00000587761:exon3:c.G308T:p.W103L;ENSG00000085415:ENST00000589446:exon2:c.G257T:p.W86L;ENSG00000085415:ENST00000399892:exon3:c.G308T:p.W103L;	0.994829350595081	0.908
18	12955608	G	A	18	12955609	y	n	exonic	SEH1L	stopgain SNV	SEH1L:NM_031216:exon3:c.G309A:p.W103X;SEH1L:NM_001013437:exon3:c.G309A:p.W103X;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000262124:exon3:c.G309A:p.W103X;ENSG00000085415:ENST00000592170:exon4:c.G231A:p.W77X;ENSG00000085415:ENST00000587761:exon3:c.G309A:p.W103X;ENSG00000085415:ENST00000589446:exon2:c.G258A:p.W86X;ENSG00000085415:ENST00000399892:exon3:c.G309A:p.W103X;	0.999994855766992	0.986
18	12955608	G	C	18	12955609	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.G309C:p.W103C;SEH1L:NM_001013437:exon3:c.G309C:p.W103C;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.G309C:p.W103C;ENSG00000085415:ENST00000592170:exon4:c.G231C:p.W77C;ENSG00000085415:ENST00000587761:exon3:c.G309C:p.W103C;ENSG00000085415:ENST00000589446:exon2:c.G258C:p.W86C;ENSG00000085415:ENST00000399892:exon3:c.G309C:p.W103C;	0.999996349882544	0.986
18	12955608	G	T	18	12955609	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon3:c.G309T:p.W103C;SEH1L:NM_001013437:exon3:c.G309T:p.W103C;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon3:c.G309T:p.W103C;ENSG00000085415:ENST00000592170:exon4:c.G231T:p.W77C;ENSG00000085415:ENST00000587761:exon3:c.G309T:p.W103C;ENSG00000085415:ENST00000589446:exon2:c.G258T:p.W86C;ENSG00000085415:ENST00000399892:exon3:c.G309T:p.W103C;	0.999990067529978	1.0
18	12955609	G	A	18	12955610	y	n	splicing	SEH1L(NM_031216:exon3:c.309+1G>A;NM_001013437:exon3:c.309+1G>A)	.	.	exonic;splicing	ENSG00000085415;ENSG00000085415(ENST00000262124:exon3:c.309+1G>A;ENST00000399892:exon3:c.309+1G>A;ENST00000589446:exon2:c.258+1G>A;ENST00000587761:exon3:c.309+1G>A)	unknown	UNKNOWN	0.999993148181228	0.938
18	12955609	G	C	18	12955610	y	n	splicing	SEH1L(NM_031216:exon3:c.309+1G>C;NM_001013437:exon3:c.309+1G>C)	.	.	exonic;splicing	ENSG00000085415;ENSG00000085415(ENST00000262124:exon3:c.309+1G>C;ENST00000399892:exon3:c.309+1G>C;ENST00000589446:exon2:c.258+1G>C;ENST00000587761:exon3:c.309+1G>C)	unknown	UNKNOWN	0.999993148181228	0.936
18	12955609	G	T	18	12955610	y	n	splicing	SEH1L(NM_031216:exon3:c.309+1G>T;NM_001013437:exon3:c.309+1G>T)	.	.	exonic;splicing	ENSG00000085415;ENSG00000085415(ENST00000262124:exon3:c.309+1G>T;ENST00000399892:exon3:c.309+1G>T;ENST00000589446:exon2:c.258+1G>T;ENST00000587761:exon3:c.309+1G>T)	unknown	UNKNOWN	0.999993148181228	0.936
18	12955610	T	A	18	12955611	y	n	splicing	SEH1L(NM_031216:exon3:c.309+2T>A;NM_001013437:exon3:c.309+2T>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon3:c.309+2T>A;ENST00000399892:exon3:c.309+2T>A;ENST00000589446:exon2:c.258+2T>A;ENST00000587761:exon3:c.309+2T>A)	.	.	0.999988247793601	0.938
18	12955610	T	C	18	12955611	y	n	splicing	SEH1L(NM_031216:exon3:c.309+2T>C;NM_001013437:exon3:c.309+2T>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon3:c.309+2T>C;ENST00000399892:exon3:c.309+2T>C;ENST00000589446:exon2:c.258+2T>C;ENST00000587761:exon3:c.309+2T>C)	.	.	0.999991768821547	0.944
18	12955610	T	G	18	12955611	y	n	splicing	SEH1L(NM_031216:exon3:c.309+2T>G;NM_001013437:exon3:c.309+2T>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon3:c.309+2T>G;ENST00000399892:exon3:c.309+2T>G;ENST00000589446:exon2:c.258+2T>G;ENST00000587761:exon3:c.309+2T>G)	.	.	0.999988247793601	0.938
18	12955611	G	A	18	12955612	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.3242228570282E-5	0.012
18	12955611	G	C	18	12955612	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.445687125090632	0.436
18	12955611	G	T	18	12955612	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.731595374820436	0.444
18	12955612	A	C	18	12955613	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.992591748313725	0.822
18	12955612	A	G	18	12955613	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999587706046308	0.894
18	12955612	A	T	18	12955613	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999691833591601	0.872
18	12955613	G	A	18	12955614	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999955053963728	1.0
18	12955613	G	C	18	12955614	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999968137464507	0.934
18	12955613	G	T	18	12955614	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999957527752983	0.98
18	12955614	A	C	18	12955615	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.37825584884053E-5	0.018
18	12955614	A	G	18	12955615	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.29008492480635E-4	0.0
18	12955614	A	T	18	12955615	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.46389589563481E-5	0.04
18	12955615	C	A	18	12955616	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.03765417231877E-5	0.0
18	12955615	C	G	18	12955616	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.68551800785276E-5	0.002
18	12955615	C	T	18	12955616	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.70698119066472E-4	0.006
18	12955616	A	C	18	12955617	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00126429101201126	0.004
18	12955616	A	G	18	12955617	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00142021297688766	0.006
18	12955616	A	T	18	12955617	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00134450995223115	0.03
18	12963147	T	A	18	12963148	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.20107695420999E-4	0.072
18	12963147	T	C	18	12963148	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.64307204886204E-4	0.024
18	12963147	T	G	18	12963148	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999489884532915	0.89
18	12963148	T	A	18	12963149	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00300510358911882	0.114
18	12963148	T	C	18	12963149	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00130572244812444	0.028
18	12963148	T	G	18	12963149	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00120838699975207	0.128
18	12963149	T	A	18	12963150	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.60079991503552E-4	0.086
18	12963149	T	C	18	12963150	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.27129580868336E-4	0.014
18	12963149	T	G	18	12963150	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.54721904253137E-4	0.094
18	12963150	T	A	18	12963151	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.65587792016008E-4	0.094
18	12963150	T	C	18	12963151	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.04204250538999E-4	0.03
18	12963150	T	G	18	12963151	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.92024405324438E-4	0.088
18	12963151	T	A	18	12963152	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00609201213831533	0.024
18	12963151	T	C	18	12963152	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.74269409087875E-4	0.008
18	12963151	T	G	18	12963152	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00251715716532631	0.038
18	12963152	T	A	18	12963153	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.97480519971947E-4	0.036
18	12963152	T	C	18	12963153	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.57373453556006E-4	0.004
18	12963152	T	G	18	12963153	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.74011040463935E-4	0.066
18	12963153	T	A	18	12963154	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00199349866490841	0.076
18	12963153	T	C	18	12963154	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00150301359753646	0.018
18	12963153	T	G	18	12963154	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00270370913720986	0.174
18	12963154	T	A	18	12963155	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00304864334442305	0.26
18	12963154	T	C	18	12963155	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00218748845845861	0.074
18	12963154	T	G	18	12963155	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00224632855198818	0.26
18	12963155	T	A	18	12963156	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	9.53618651292958E-5	0.006
18	12963155	T	C	18	12963156	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.81096818144137E-5	0.008
18	12963155	T	G	18	12963156	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.27455144265599E-4	0.004
18	12963156	T	A	18	12963157	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.0413812052751E-4	0.026
18	12963156	T	C	18	12963157	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.26008758345955E-5	0.002
18	12963156	T	G	18	12963157	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0857575107894781	0.346
18	12963157	A	C	18	12963158	y	y	splicing	SEH1L(NM_031216:exon4:c.310-2A>C;NM_001013437:exon4:c.310-2A>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.310-2A>C;ENST00000585730:exon3:c.163-2A>C;ENST00000399892:exon4:c.310-2A>C;ENST00000589446:exon3:c.259-2A>C;ENST00000587761:exon4:c.310-2A>C)	.	.	0.999949833242292	0.906
18	12963157	A	G	18	12963158	y	y	splicing	SEH1L(NM_031216:exon4:c.310-2A>G;NM_001013437:exon4:c.310-2A>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.310-2A>G;ENST00000585730:exon3:c.163-2A>G;ENST00000399892:exon4:c.310-2A>G;ENST00000589446:exon3:c.259-2A>G;ENST00000587761:exon4:c.310-2A>G)	.	.	0.999949833242292	0.906
18	12963157	A	T	18	12963158	y	y	splicing	SEH1L(NM_031216:exon4:c.310-2A>T;NM_001013437:exon4:c.310-2A>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.310-2A>T;ENST00000585730:exon3:c.163-2A>T;ENST00000399892:exon4:c.310-2A>T;ENST00000589446:exon3:c.259-2A>T;ENST00000587761:exon4:c.310-2A>T)	.	.	0.999949833242292	0.904
18	12963158	G	A	18	12963159	y	y	splicing	SEH1L(NM_031216:exon4:c.310-1G>A;NM_001013437:exon4:c.310-1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.310-1G>A;ENST00000585730:exon3:c.163-1G>A;ENST00000399892:exon4:c.310-1G>A;ENST00000589446:exon3:c.259-1G>A;ENST00000587761:exon4:c.310-1G>A)	.	.	0.999986675681007	0.932
18	12963158	G	C	18	12963159	y	y	splicing	SEH1L(NM_031216:exon4:c.310-1G>C;NM_001013437:exon4:c.310-1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.310-1G>C;ENST00000585730:exon3:c.163-1G>C;ENST00000399892:exon4:c.310-1G>C;ENST00000589446:exon3:c.259-1G>C;ENST00000587761:exon4:c.310-1G>C)	.	.	0.999986675681007	0.932
18	12963158	G	T	18	12963159	y	y	splicing	SEH1L(NM_031216:exon4:c.310-1G>T;NM_001013437:exon4:c.310-1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.310-1G>T;ENST00000585730:exon3:c.163-1G>T;ENST00000399892:exon4:c.310-1G>T;ENST00000589446:exon3:c.259-1G>T;ENST00000587761:exon4:c.310-1G>T)	.	.	0.999986675681007	0.932
18	12963159	G	A	18	12963160	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.G310A:p.V104I;SEH1L:NM_001013437:exon4:c.G310A:p.V104I;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.G163A:p.V55I;ENSG00000085415:ENST00000262124:exon4:c.G310A:p.V104I;ENSG00000085415:ENST00000587761:exon4:c.G310A:p.V104I;ENSG00000085415:ENST00000589446:exon3:c.G259A:p.V87I;ENSG00000085415:ENST00000399892:exon4:c.G310A:p.V104I;	0.516099724084586	0.508
18	12963159	G	C	18	12963160	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.G310C:p.V104L;SEH1L:NM_001013437:exon4:c.G310C:p.V104L;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.G163C:p.V55L;ENSG00000085415:ENST00000262124:exon4:c.G310C:p.V104L;ENSG00000085415:ENST00000587761:exon4:c.G310C:p.V104L;ENSG00000085415:ENST00000589446:exon3:c.G259C:p.V87L;ENSG00000085415:ENST00000399892:exon4:c.G310C:p.V104L;	0.996694416469017	0.78
18	12963159	G	T	18	12963160	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.G310T:p.V104F;SEH1L:NM_001013437:exon4:c.G310T:p.V104F;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.G163T:p.V55F;ENSG00000085415:ENST00000262124:exon4:c.G310T:p.V104F;ENSG00000085415:ENST00000587761:exon4:c.G310T:p.V104F;ENSG00000085415:ENST00000589446:exon3:c.G259T:p.V87F;ENSG00000085415:ENST00000399892:exon4:c.G310T:p.V104F;	0.998154821195837	0.786
18	12963160	T	A	18	12963161	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.T311A:p.V104D;SEH1L:NM_001013437:exon4:c.T311A:p.V104D;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.T164A:p.V55D;ENSG00000085415:ENST00000262124:exon4:c.T311A:p.V104D;ENSG00000085415:ENST00000587761:exon4:c.T311A:p.V104D;ENSG00000085415:ENST00000589446:exon3:c.T260A:p.V87D;ENSG00000085415:ENST00000399892:exon4:c.T311A:p.V104D;	0.141978764583576	0.456
18	12963160	T	C	18	12963161	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.T311C:p.V104A;SEH1L:NM_001013437:exon4:c.T311C:p.V104A;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.T164C:p.V55A;ENSG00000085415:ENST00000262124:exon4:c.T311C:p.V104A;ENSG00000085415:ENST00000587761:exon4:c.T311C:p.V104A;ENSG00000085415:ENST00000589446:exon3:c.T260C:p.V87A;ENSG00000085415:ENST00000399892:exon4:c.T311C:p.V104A;	0.210573528540557	0.374
18	12963160	T	G	18	12963161	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.T311G:p.V104G;SEH1L:NM_001013437:exon4:c.T311G:p.V104G;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.T164G:p.V55G;ENSG00000085415:ENST00000262124:exon4:c.T311G:p.V104G;ENSG00000085415:ENST00000587761:exon4:c.T311G:p.V104G;ENSG00000085415:ENST00000589446:exon3:c.T260G:p.V87G;ENSG00000085415:ENST00000399892:exon4:c.T311G:p.V104G;	0.158048554273066	0.414
18	12963368	A	C	18	12963369	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon4:c.A519C:p.S173S;SEH1L:NM_001013437:exon4:c.A519C:p.S173S;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.A372C:p.S124S;ENSG00000085415:ENST00000262124:exon4:c.A519C:p.S173S;ENSG00000085415:ENST00000587761:exon4:c.A519C:p.S173S;ENSG00000085415:ENST00000589446:exon3:c.A468C:p.S156S;ENSG00000085415:ENST00000399892:exon4:c.A519C:p.S173S;	0.00269738010324996	0.002
18	12963368	A	G	18	12963369	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon4:c.A519G:p.S173S;SEH1L:NM_001013437:exon4:c.A519G:p.S173S;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.A372G:p.S124S;ENSG00000085415:ENST00000262124:exon4:c.A519G:p.S173S;ENSG00000085415:ENST00000587761:exon4:c.A519G:p.S173S;ENSG00000085415:ENST00000589446:exon3:c.A468G:p.S156S;ENSG00000085415:ENST00000399892:exon4:c.A519G:p.S173S;	9.75968053730318E-4	0.01
18	12963368	A	T	18	12963369	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon4:c.A519T:p.S173S;SEH1L:NM_001013437:exon4:c.A519T:p.S173S;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.A372T:p.S124S;ENSG00000085415:ENST00000262124:exon4:c.A519T:p.S173S;ENSG00000085415:ENST00000587761:exon4:c.A519T:p.S173S;ENSG00000085415:ENST00000589446:exon3:c.A468T:p.S156S;ENSG00000085415:ENST00000399892:exon4:c.A519T:p.S173S;	0.0123176414578524	0.148
18	12963369	A	C	18	12963370	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.A520C:p.S174R;SEH1L:NM_001013437:exon4:c.A520C:p.S174R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.A373C:p.S125R;ENSG00000085415:ENST00000262124:exon4:c.A520C:p.S174R;ENSG00000085415:ENST00000589446:exon3:c.A469C:p.S157R;ENSG00000085415:ENST00000399892:exon4:c.A520C:p.S174R;	0.994094814279688	0.702
18	12963369	A	G	18	12963370	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.A520G:p.S174G;SEH1L:NM_001013437:exon4:c.A520G:p.S174G;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.A373G:p.S125G;ENSG00000085415:ENST00000262124:exon4:c.A520G:p.S174G;ENSG00000085415:ENST00000587761:exon4:c.A520G:p.R174G;ENSG00000085415:ENST00000589446:exon3:c.A469G:p.S157G;ENSG00000085415:ENST00000399892:exon4:c.A520G:p.S174G;	0.987736081142529	0.732
18	12963369	A	T	18	12963370	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.A520T:p.S174C;SEH1L:NM_001013437:exon4:c.A520T:p.S174C;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000587761:exon4:c.A520T:p.R174X;	0.988825349615147	0.628
18	12963370	G	A	18	12963371	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.G521A:p.S174N;SEH1L:NM_001013437:exon4:c.G521A:p.S174N;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.G374A:p.S125N;ENSG00000085415:ENST00000262124:exon4:c.G521A:p.S174N;ENSG00000085415:ENST00000587761:exon4:c.G521A:p.R174K;ENSG00000085415:ENST00000589446:exon3:c.G470A:p.S157N;ENSG00000085415:ENST00000399892:exon4:c.G521A:p.S174N;	0.999338694714156	0.84
18	12963370	G	C	18	12963371	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.G521C:p.S174T;SEH1L:NM_001013437:exon4:c.G521C:p.S174T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.G374C:p.S125T;ENSG00000085415:ENST00000262124:exon4:c.G521C:p.S174T;ENSG00000085415:ENST00000587761:exon4:c.G521C:p.R174T;ENSG00000085415:ENST00000589446:exon3:c.G470C:p.S157T;ENSG00000085415:ENST00000399892:exon4:c.G521C:p.S174T;	0.776552514318253	0.566
18	12963370	G	T	18	12963371	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon4:c.G521T:p.S174I;SEH1L:NM_001013437:exon4:c.G521T:p.S174I;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon3:c.G374T:p.S125I;ENSG00000085415:ENST00000262124:exon4:c.G521T:p.S174I;ENSG00000085415:ENST00000587761:exon4:c.G521T:p.R174I;ENSG00000085415:ENST00000589446:exon3:c.G470T:p.S157I;ENSG00000085415:ENST00000399892:exon4:c.G521T:p.S174I;	0.975105664442032	0.782
18	12963371	G	A	18	12963372	y	y	splicing	SEH1L(NM_031216:exon4:c.521+1G>A;NM_001013437:exon4:c.521+1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.521+1G>A;ENST00000585730:exon3:c.374+1G>A;ENST00000399892:exon4:c.521+1G>A;ENST00000589446:exon3:c.470+1G>A;ENST00000587761:exon4:c.521+1G>A)	.	.	0.999988247793601	0.928
18	12963371	G	C	18	12963372	y	y	splicing	SEH1L(NM_031216:exon4:c.521+1G>C;NM_001013437:exon4:c.521+1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.521+1G>C;ENST00000585730:exon3:c.374+1G>C;ENST00000399892:exon4:c.521+1G>C;ENST00000589446:exon3:c.470+1G>C;ENST00000587761:exon4:c.521+1G>C)	.	.	0.999988247793601	0.928
18	12963371	G	T	18	12963372	y	y	splicing	SEH1L(NM_031216:exon4:c.521+1G>T;NM_001013437:exon4:c.521+1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.521+1G>T;ENST00000585730:exon3:c.374+1G>T;ENST00000399892:exon4:c.521+1G>T;ENST00000589446:exon3:c.470+1G>T;ENST00000587761:exon4:c.521+1G>T)	.	.	0.999988247793601	0.928
18	12963372	T	A	18	12963373	y	y	splicing	SEH1L(NM_031216:exon4:c.521+2T>A;NM_001013437:exon4:c.521+2T>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.521+2T>A;ENST00000585730:exon3:c.374+2T>A;ENST00000399892:exon4:c.521+2T>A;ENST00000589446:exon3:c.470+2T>A;ENST00000587761:exon4:c.521+2T>A)	.	.	0.999993519952936	0.93
18	12963372	T	C	18	12963373	y	y	splicing	SEH1L(NM_031216:exon4:c.521+2T>C;NM_001013437:exon4:c.521+2T>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.521+2T>C;ENST00000585730:exon3:c.374+2T>C;ENST00000399892:exon4:c.521+2T>C;ENST00000589446:exon3:c.470+2T>C;ENST00000587761:exon4:c.521+2T>C)	.	.	0.992991500790992	0.578
18	12963372	T	G	18	12963373	y	y	splicing	SEH1L(NM_031216:exon4:c.521+2T>G;NM_001013437:exon4:c.521+2T>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon4:c.521+2T>G;ENST00000585730:exon3:c.374+2T>G;ENST00000399892:exon4:c.521+2T>G;ENST00000589446:exon3:c.470+2T>G;ENST00000587761:exon4:c.521+2T>G)	.	.	0.999993519952936	0.93
18	12963373	A	C	18	12963374	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.903633194912921	0.642
18	12963373	A	G	18	12963374	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0546562193721324	0.12
18	12963373	A	T	18	12963374	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.862513178995402	0.59
18	12963374	A	C	18	12963375	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.177966275554997	0.306
18	12963374	A	G	18	12963375	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.17312371984754	0.412
18	12963374	A	T	18	12963375	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.180275368005228	0.27
18	12963375	G	A	18	12963376	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.734738133475071	0.646
18	12963375	G	C	18	12963376	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.599352291784404	0.576
18	12963375	G	T	18	12963376	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.847182636104721	0.614
18	12963376	T	A	18	12963377	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.66019190498765E-4	0.056
18	12963376	T	C	18	12963377	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.91824778890268E-4	0.028
18	12963376	T	G	18	12963377	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.904237213726E-4	0.036
18	12963377	T	A	18	12963378	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.65823046292135E-5	0.0
18	12963377	T	C	18	12963378	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.65823046292135E-5	0.0
18	12963377	T	G	18	12963378	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.65823046292135E-5	0.0
18	12963378	T	A	18	12963379	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.22200193920596E-5	0.0
18	12963378	T	C	18	12963379	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.93750929994865E-5	0.0
18	12963378	T	G	18	12963379	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.93750929994865E-5	0.0
18	12964423	T	A	18	12964424	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.05960376236958E-4	0.072
18	12964423	T	C	18	12964424	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.76475217381984E-4	0.248
18	12964423	T	G	18	12964424	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.76475217381984E-4	0.146
18	12964424	T	A	18	12964425	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.60509126160735E-4	0.026
18	12964424	T	C	18	12964425	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.60509126160735E-4	0.022
18	12964424	T	G	18	12964425	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.60509126160735E-4	0.022
18	12964425	A	C	18	12964426	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.60509126160735E-4	0.022
18	12964425	A	G	18	12964426	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.60509126160735E-4	0.022
18	12964425	A	T	18	12964426	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.60509126160735E-4	0.028
18	12964426	T	A	18	12964427	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.21161612834329E-5	0.004
18	12964426	T	C	18	12964427	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.12288223045236E-5	0.002
18	12964426	T	G	18	12964427	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.12288223045236E-5	0.002
18	12964427	C	A	18	12964428	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.56499665926734E-5	0.032
18	12964427	C	G	18	12964428	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.56499665926734E-5	0.032
18	12964427	C	T	18	12964428	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.56499665926734E-5	0.038
18	12964428	A	C	18	12964429	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.07620641825897E-5	0.0
18	12964428	A	G	18	12964429	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.07620641825897E-5	0.0
18	12964428	A	T	18	12964429	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.07620641825897E-5	0.0
18	12964429	T	A	18	12964430	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.012
18	12964429	T	C	18	12964430	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.01
18	12964429	T	G	18	12964430	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.01
18	12964430	T	A	18	12964431	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.012
18	12964430	T	C	18	12964431	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.01
18	12964430	T	G	18	12964431	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.012
18	12964431	A	C	18	12964432	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.62327869165243E-4	0.036
18	12964431	A	G	18	12964432	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.62327869165243E-4	0.04
18	12964431	A	T	18	12964432	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.62327869165243E-4	0.024
18	12964432	A	C	18	12964433	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.012
18	12964432	A	G	18	12964433	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.01
18	12964432	A	T	18	12964433	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.4243997895107E-5	0.01
18	12964433	A	C	18	12964434	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.522-2A>C)	.	.	1.60509126160735E-4	0.036
18	12964433	A	G	18	12964434	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.522-2A>G)	.	.	1.60509126160735E-4	0.036
18	12964433	A	T	18	12964434	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.522-2A>T)	.	.	1.20034981273023E-4	0.018
18	12964434	G	A	18	12964435	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.522-1G>A)	.	.	3.78864525412067E-5	0.022
18	12964434	G	C	18	12964435	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.522-1G>C)	.	.	2.45277156108894E-5	0.0
18	12964434	G	T	18	12964435	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.522-1G>T)	.	.	2.45277156108894E-5	0.0
18	12964435	A	C	18	12964436	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A522C:p.R174S;	6.4243997895107E-5	0.01
18	12964435	A	G	18	12964436	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A522G:p.R174R;	6.4243997895107E-5	0.01
18	12964435	A	T	18	12964436	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A522T:p.R174S;	6.4243997895107E-5	0.012
18	12964436	A	C	18	12964437	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A523C:p.I175L;	3.57245582126943E-5	0.01
18	12964436	A	G	18	12964437	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A523G:p.I175V;	3.57245582126943E-5	0.01
18	12964436	A	T	18	12964437	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A523T:p.I175L;	7.42544334184685E-5	0.01
18	12964492	A	C	18	12964493	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A579C:p.P193P;	5.32941630131073E-6	0.004
18	12964492	A	G	18	12964493	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A579G:p.P193P;	5.32941630131073E-6	0.004
18	12964492	A	T	18	12964493	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A579T:p.P193P;	8.23210739534814E-6	0.034
18	12964493	A	C	18	12964494	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A580C:p.S194R;	1.95735775412773E-5	0.006
18	12964493	A	G	18	12964494	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A580G:p.S194G;	1.95735775412773E-5	0.006
18	12964493	A	T	18	12964494	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.A580T:p.S194C;	1.95735775412773E-5	0.006
18	12964494	G	A	18	12964495	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.G581A:p.S194N;	3.01405895405358E-5	0.01
18	12964494	G	C	18	12964495	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.G581C:p.S194T;	1.01559384236425E-5	0.002
18	12964494	G	T	18	12964495	n	y	intronic	SEH1L	.	.	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000587761:exon5:c.G581T:p.S194I;	1.01559384236425E-5	0.006
18	12964495	G	A	18	12964496	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.581+1G>A)	.	.	3.07620641825897E-5	0.002
18	12964495	G	C	18	12964496	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.581+1G>C)	.	.	3.07620641825897E-5	0.024
18	12964495	G	T	18	12964496	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.581+1G>T)	.	.	3.07620641825897E-5	0.002
18	12964496	T	A	18	12964497	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.581+2T>A)	.	.	7.62161474073626E-4	0.036
18	12964496	T	C	18	12964497	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.581+2T>C)	.	.	0.00136636389108344	0.036
18	12964496	T	G	18	12964497	n	y	intronic	SEH1L	.	.	splicing	ENSG00000085415(ENST00000587761:exon5:c.581+2T>G)	.	.	0.00136636389108344	0.036
18	12964497	A	C	18	12964498	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.78864525412067E-5	0.0
18	12964497	A	G	18	12964498	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.78864525412067E-5	0.0
18	12964497	A	T	18	12964498	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.78864525412067E-5	0.0
18	12964498	T	A	18	12964499	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.42544334184685E-5	0.012
18	12964498	T	C	18	12964499	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.42544334184685E-5	0.012
18	12964498	T	G	18	12964499	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.42544334184685E-5	0.01
18	12964499	G	A	18	12964500	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.21833502150991E-5	0.0
18	12964499	G	C	18	12964500	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.64084767037613E-5	0.008
18	12964499	G	T	18	12964500	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.21833502150991E-5	0.008
18	12964500	A	C	18	12964501	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.3994564522384E-5	0.016
18	12964500	A	G	18	12964501	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.3994564522384E-5	0.012
18	12964500	A	T	18	12964501	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.3994564522384E-5	0.008
18	12964501	C	A	18	12964502	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.09774573448081E-5	0.008
18	12964501	C	G	18	12964502	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.09774573448081E-5	0.004
18	12964501	C	T	18	12964502	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.44782069694124E-5	0.004
18	12964502	T	A	18	12964503	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.95905533305893E-5	0.004
18	12964502	T	C	18	12964503	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.78674951653264E-5	0.004
18	12964502	T	G	18	12964503	n	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.78674951653264E-5	0.004
18	12971140	C	A	18	12971141	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.25301395534723E-5	0.026
18	12971140	C	G	18	12971141	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.56853593919312E-5	0.024
18	12971140	C	T	18	12971141	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.82752223145161E-6	0.0
18	12971141	C	A	18	12971142	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.18849248724875E-4	0.014
18	12971141	C	G	18	12971142	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.82745751469621E-5	0.016
18	12971141	C	T	18	12971142	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.66423557031445E-5	0.0
18	12971142	C	A	18	12971143	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.77066961504522E-4	0.12
18	12971142	C	G	18	12971143	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.12120247252028E-4	0.026
18	12971142	C	T	18	12971143	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.89537432618646E-6	0.0
18	12971143	C	A	18	12971144	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.490485673856016	0.722
18	12971143	C	G	18	12971144	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.07868767427344E-5	0.232
18	12971143	C	T	18	12971144	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.53158979321216E-5	0.0
18	12971144	G	A	18	12971145	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.23220397248815E-4	0.0
18	12971144	G	C	18	12971145	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.85168986008584E-5	0.0
18	12971144	G	T	18	12971145	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.52230471580623E-5	0.008
18	12971145	T	A	18	12971146	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.77528596883163E-4	0.136
18	12971145	T	C	18	12971146	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.13020503883355E-4	0.01
18	12971145	T	G	18	12971146	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.07916479036417E-4	0.08
18	12971146	T	A	18	12971147	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0314072591866879	0.396
18	12971146	T	C	18	12971147	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.02846899378029E-4	0.09
18	12971146	T	G	18	12971147	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0112288800251624	0.392
18	12971147	T	A	18	12971148	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.121870629489514	0.316
18	12971147	T	C	18	12971148	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.81597549424995E-4	0.058
18	12971147	T	G	18	12971148	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0645016757165978	0.356
18	12971148	C	A	18	12971149	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.08656181368155E-5	0.0
18	12971148	C	G	18	12971149	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.0375822972675E-5	0.012
18	12971148	C	T	18	12971149	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.64836865832691E-5	0.0
18	12971149	T	A	18	12971150	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.84771730433331E-4	0.096
18	12971149	T	C	18	12971150	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.50450730491727E-5	0.0
18	12971149	T	G	18	12971150	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.308420736858952	0.592
18	12971150	A	C	18	12971151	y	y	splicing	SEH1L(NM_031216:exon5:c.522-2A>C;NM_001013437:exon5:c.522-2A>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.522-2A>C;ENST00000585730:exon4:c.375-2A>C;ENST00000399892:exon5:c.522-2A>C;ENST00000589446:exon4:c.471-2A>C;ENST00000587761:exon6:c.582-2A>C)	.	.	0.999946188727699	0.948
18	12971150	A	G	18	12971151	y	y	splicing	SEH1L(NM_031216:exon5:c.522-2A>G;NM_001013437:exon5:c.522-2A>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.522-2A>G;ENST00000585730:exon4:c.375-2A>G;ENST00000399892:exon5:c.522-2A>G;ENST00000589446:exon4:c.471-2A>G;ENST00000587761:exon6:c.582-2A>G)	.	.	0.999946188727699	0.948
18	12971150	A	T	18	12971151	y	y	splicing	SEH1L(NM_031216:exon5:c.522-2A>T;NM_001013437:exon5:c.522-2A>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.522-2A>T;ENST00000585730:exon4:c.375-2A>T;ENST00000399892:exon5:c.522-2A>T;ENST00000589446:exon4:c.471-2A>T;ENST00000587761:exon6:c.582-2A>T)	.	.	0.99994568797423	0.946
18	12971151	G	A	18	12971152	y	y	splicing	SEH1L(NM_031216:exon5:c.522-1G>A;NM_001013437:exon5:c.522-1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.522-1G>A;ENST00000585730:exon4:c.375-1G>A;ENST00000399892:exon5:c.522-1G>A;ENST00000589446:exon4:c.471-1G>A;ENST00000587761:exon6:c.582-1G>A)	.	.	0.999982198333896	0.936
18	12971151	G	C	18	12971152	y	y	splicing	SEH1L(NM_031216:exon5:c.522-1G>C;NM_001013437:exon5:c.522-1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.522-1G>C;ENST00000585730:exon4:c.375-1G>C;ENST00000399892:exon5:c.522-1G>C;ENST00000589446:exon4:c.471-1G>C;ENST00000587761:exon6:c.582-1G>C)	.	.	0.999981577374168	0.934
18	12971151	G	T	18	12971152	y	y	splicing	SEH1L(NM_031216:exon5:c.522-1G>T;NM_001013437:exon5:c.522-1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.522-1G>T;ENST00000585730:exon4:c.375-1G>T;ENST00000399892:exon5:c.522-1G>T;ENST00000589446:exon4:c.471-1G>T;ENST00000587761:exon6:c.582-1G>T)	.	.	0.999982198333896	0.936
18	12971152	C	A	18	12971153	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.C522A:p.S174R;SEH1L:NM_001013437:exon5:c.C522A:p.S174R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.C375A:p.S125R;ENSG00000085415:ENST00000262124:exon5:c.C522A:p.S174R;ENSG00000085415:ENST00000587761:exon6:c.C582A:p.S194R;ENSG00000085415:ENST00000589446:exon4:c.C471A:p.S157R;ENSG00000085415:ENST00000399892:exon5:c.C522A:p.S174R;	0.0031784237795768	0.054
18	12971152	C	G	18	12971153	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.C522G:p.S174R;SEH1L:NM_001013437:exon5:c.C522G:p.S174R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.C375G:p.S125R;ENSG00000085415:ENST00000262124:exon5:c.C522G:p.S174R;ENSG00000085415:ENST00000587761:exon6:c.C582G:p.S194R;ENSG00000085415:ENST00000589446:exon4:c.C471G:p.S157R;ENSG00000085415:ENST00000399892:exon5:c.C522G:p.S174R;	0.00384853407710086	0.07
18	12971152	C	T	18	12971153	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon5:c.C522T:p.S174S;SEH1L:NM_001013437:exon5:c.C522T:p.S174S;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.C375T:p.S125S;ENSG00000085415:ENST00000262124:exon5:c.C522T:p.S174S;ENSG00000085415:ENST00000587761:exon6:c.C582T:p.S194S;ENSG00000085415:ENST00000589446:exon4:c.C471T:p.S157S;ENSG00000085415:ENST00000399892:exon5:c.C522T:p.S174S;	0.0039835020623541	0.174
18	12971153	T	A	18	12971154	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.T523A:p.S175T;SEH1L:NM_001013437:exon5:c.T523A:p.S175T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.T376A:p.S126T;ENSG00000085415:ENST00000262124:exon5:c.T523A:p.S175T;ENSG00000085415:ENST00000587761:exon6:c.T583A:p.S195T;ENSG00000085415:ENST00000589446:exon4:c.T472A:p.S158T;ENSG00000085415:ENST00000399892:exon5:c.T523A:p.S175T;	0.00108235152534347	0.07
18	12971153	T	C	18	12971154	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.T523C:p.S175P;SEH1L:NM_001013437:exon5:c.T523C:p.S175P;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.T376C:p.S126P;ENSG00000085415:ENST00000262124:exon5:c.T523C:p.S175P;ENSG00000085415:ENST00000587761:exon6:c.T583C:p.S195P;ENSG00000085415:ENST00000589446:exon4:c.T472C:p.S158P;ENSG00000085415:ENST00000399892:exon5:c.T523C:p.S175P;	8.10566673251023E-4	0.038
18	12971153	T	G	18	12971154	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.T523G:p.S175A;SEH1L:NM_001013437:exon5:c.T523G:p.S175A;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.T376G:p.S126A;ENSG00000085415:ENST00000262124:exon5:c.T523G:p.S175A;ENSG00000085415:ENST00000587761:exon6:c.T583G:p.S195A;ENSG00000085415:ENST00000589446:exon4:c.T472G:p.S158A;ENSG00000085415:ENST00000399892:exon5:c.T523G:p.S175A;	9.71812278307555E-4	0.038
18	12971248	C	A	18	12971249	y	n	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon5:c.C618A:p.T206T;SEH1L:NM_001013437:exon5:c.C618A:p.T206T;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.C471A:p.T157T;ENSG00000085415:ENST00000262124:exon5:c.C618A:p.T206T;ENSG00000085415:ENST00000587761:exon6:c.C678A:p.T226T;ENSG00000085415:ENST00000589446:exon4:c.C567A:p.T189T;ENSG00000085415:ENST00000399892:exon5:c.C618A:p.T206T;	0.0239867903997169	0.18
18	12971248	C	G	18	12971249	y	n	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon5:c.C618G:p.T206T;SEH1L:NM_001013437:exon5:c.C618G:p.T206T;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.C471G:p.T157T;ENSG00000085415:ENST00000262124:exon5:c.C618G:p.T206T;ENSG00000085415:ENST00000587761:exon6:c.C678G:p.T226T;ENSG00000085415:ENST00000589446:exon4:c.C567G:p.T189T;ENSG00000085415:ENST00000399892:exon5:c.C618G:p.T206T;	0.00414297578606702	0.198
18	12971248	C	T	18	12971249	y	n	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon5:c.C618T:p.T206T;SEH1L:NM_001013437:exon5:c.C618T:p.T206T;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.C471T:p.T157T;ENSG00000085415:ENST00000262124:exon5:c.C618T:p.T206T;ENSG00000085415:ENST00000587761:exon6:c.C678T:p.T226T;ENSG00000085415:ENST00000589446:exon4:c.C567T:p.T189T;ENSG00000085415:ENST00000399892:exon5:c.C618T:p.T206T;	0.718280109489052	0.568
18	12971249	A	C	18	12971250	y	n	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon5:c.A619C:p.R207R;SEH1L:NM_001013437:exon5:c.A619C:p.R207R;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.A472C:p.R158R;ENSG00000085415:ENST00000262124:exon5:c.A619C:p.R207R;ENSG00000085415:ENST00000587761:exon6:c.A679C:p.R227R;ENSG00000085415:ENST00000399892:exon5:c.A619C:p.R207R;	0.998406394375077	0.976
18	12971249	A	G	18	12971250	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.A619G:p.R207G;SEH1L:NM_001013437:exon5:c.A619G:p.R207G;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.A472G:p.R158G;ENSG00000085415:ENST00000262124:exon5:c.A619G:p.R207G;ENSG00000085415:ENST00000587761:exon6:c.A679G:p.R227G;ENSG00000085415:ENST00000399892:exon5:c.A619G:p.R207G;	0.999782553719675	0.988
18	12971249	A	T	18	12971250	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.A619T:p.R207W;SEH1L:NM_001013437:exon5:c.A619T:p.R207W;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.A472T:p.R158W;ENSG00000085415:ENST00000262124:exon5:c.A619T:p.R207W;ENSG00000085415:ENST00000587761:exon6:c.A679T:p.R227W;ENSG00000085415:ENST00000399892:exon5:c.A619T:p.R207W;	0.999791810620068	0.984
18	12971250	G	A	18	12971251	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.G620A:p.R207K;SEH1L:NM_001013437:exon5:c.G620A:p.R207K;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.G473A:p.R158K;ENSG00000085415:ENST00000262124:exon5:c.G620A:p.R207K;ENSG00000085415:ENST00000587761:exon6:c.G680A:p.R227K;ENSG00000085415:ENST00000399892:exon5:c.G620A:p.R207K;	0.999976736958669	0.988
18	12971250	G	C	18	12971251	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.G620C:p.R207T;SEH1L:NM_001013437:exon5:c.G620C:p.R207T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.G473C:p.R158T;ENSG00000085415:ENST00000262124:exon5:c.G620C:p.R207T;ENSG00000085415:ENST00000587761:exon6:c.G680C:p.R227T;ENSG00000085415:ENST00000399892:exon5:c.G620C:p.R207T;	0.9999974313604	0.994
18	12971250	G	T	18	12971251	y	n	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon5:c.G620T:p.R207M;SEH1L:NM_001013437:exon5:c.G620T:p.R207M;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.G473T:p.R158M;ENSG00000085415:ENST00000262124:exon5:c.G620T:p.R207M;ENSG00000085415:ENST00000587761:exon6:c.G680T:p.R227M;ENSG00000085415:ENST00000399892:exon5:c.G620T:p.R207M;	0.999987802439175	0.998
18	12971251	G	A	18	12971252	y	n	splicing	SEH1L(NM_031216:exon5:c.620+1G>A;NM_001013437:exon5:c.620+1G>A)	.	.	exonic;splicing	ENSG00000085415;ENSG00000085415(ENST00000262124:exon5:c.620+1G>A;ENST00000399892:exon5:c.620+1G>A;ENST00000587761:exon6:c.680+1G>A)	synonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.G474A:p.R158R;	0.999989072007339	0.934
18	12971251	G	C	18	12971252	y	n	splicing	SEH1L(NM_031216:exon5:c.620+1G>C;NM_001013437:exon5:c.620+1G>C)	.	.	exonic;splicing	ENSG00000085415;ENSG00000085415(ENST00000262124:exon5:c.620+1G>C;ENST00000399892:exon5:c.620+1G>C;ENST00000587761:exon6:c.680+1G>C)	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.G474C:p.R158S;	0.999989072007339	0.934
18	12971251	G	T	18	12971252	y	n	splicing	SEH1L(NM_031216:exon5:c.620+1G>T;NM_001013437:exon5:c.620+1G>T)	.	.	exonic;splicing	ENSG00000085415;ENSG00000085415(ENST00000262124:exon5:c.620+1G>T;ENST00000399892:exon5:c.620+1G>T;ENST00000587761:exon6:c.680+1G>T)	nonsynonymous SNV	ENSG00000085415:ENST00000585730:exon4:c.G474T:p.R158S;	0.999989072007339	0.934
18	12971252	T	A	18	12971253	y	n	splicing	SEH1L(NM_031216:exon5:c.620+2T>A;NM_001013437:exon5:c.620+2T>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.620+2T>A;ENST00000399892:exon5:c.620+2T>A;ENST00000587761:exon6:c.680+2T>A)	.	.	0.999992446697775	0.932
18	12971252	T	C	18	12971253	y	n	splicing	SEH1L(NM_031216:exon5:c.620+2T>C;NM_001013437:exon5:c.620+2T>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.620+2T>C;ENST00000399892:exon5:c.620+2T>C;ENST00000587761:exon6:c.680+2T>C)	.	.	0.993808943985639	0.654
18	12971252	T	G	18	12971253	y	n	splicing	SEH1L(NM_031216:exon5:c.620+2T>G;NM_001013437:exon5:c.620+2T>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon5:c.620+2T>G;ENST00000399892:exon5:c.620+2T>G;ENST00000587761:exon6:c.680+2T>G)	.	.	0.999992446697775	0.932
18	12971253	C	A	18	12971254	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.63849431584182E-4	0.084
18	12971253	C	G	18	12971254	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.37903548952579E-5	0.026
18	12971253	C	T	18	12971254	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	9.07149216279942E-5	0.012
18	12971254	A	C	18	12971255	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.966577530583837	0.552
18	12971254	A	G	18	12971255	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.530879290497695	0.43
18	12971254	A	T	18	12971255	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.72799454364591	0.496
18	12971255	G	A	18	12971256	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999314475664795	0.93
18	12971255	G	C	18	12971256	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.997315438778157	0.78
18	12971255	G	T	18	12971256	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.998477099562303	0.862
18	12971256	T	A	18	12971257	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.187144437763846	0.326
18	12971256	T	C	18	12971257	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.276746628915141	0.348
18	12971256	T	G	18	12971257	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0699630079129031	0.258
18	12971257	C	A	18	12971258	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.68216876595996E-5	0.0
18	12971257	C	G	18	12971258	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.01424007734105E-4	0.0
18	12971257	C	T	18	12971258	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.74487415723341E-4	0.0
18	12971258	C	A	18	12971259	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.5544418118585E-4	0.056
18	12971258	C	G	18	12971259	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.67882269693023E-4	0.054
18	12971258	C	T	18	12971259	y	n	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.63717396110146E-4	0.058
18	12978739	T	A	18	12978740	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0103020798952314	0.176
18	12978739	T	C	18	12978740	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.40714032985624E-4	0.01
18	12978739	T	G	18	12978740	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.010308158108468	0.154
18	12978740	T	A	18	12978741	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.216245720667671	0.402
18	12978740	T	C	18	12978741	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0028006334862751	0.132
18	12978740	T	G	18	12978741	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0805229290977741	0.39
18	12978741	T	A	18	12978742	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.025948177023788	0.218
18	12978741	T	C	18	12978742	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.2190218198498E-4	0.016
18	12978741	T	G	18	12978742	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0772890476625136	0.31
18	12978742	T	A	18	12978743	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0186187919850559	0.142
18	12978742	T	C	18	12978743	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	8.52838430211699E-5	0.004
18	12978742	T	G	18	12978743	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00105222173654399	0.08
18	12978743	T	A	18	12978744	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.42284318363183E-4	0.034
18	12978743	T	C	18	12978744	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.34133927489095E-6	0.0
18	12978743	T	G	18	12978744	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.9140338398717E-4	0.076
18	12978744	C	A	18	12978745	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.50227209638118E-4	0.046
18	12978744	C	G	18	12978745	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.19615450398579E-4	0.106
18	12978744	C	T	18	12978745	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.59263380380195E-5	0.0
18	12978745	C	A	18	12978746	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00468494803766063	0.196
18	12978745	C	G	18	12978746	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00357446868804773	0.146
18	12978745	C	T	18	12978746	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.64686614684917E-5	0.0
18	12978746	A	C	18	12978747	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.05640561832924E-4	0.006
18	12978746	A	G	18	12978747	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.0720027951545E-4	0.034
18	12978746	A	T	18	12978747	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.48081861222899E-4	0.002
18	12978747	T	A	18	12978748	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.33927477240525E-4	0.0
18	12978747	T	C	18	12978748	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.2828814635057E-5	0.002
18	12978747	T	G	18	12978748	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.941684742710792	0.668
18	12978748	T	A	18	12978749	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.111386551189365	0.398
18	12978748	T	C	18	12978749	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.11347683095321E-4	0.032
18	12978748	T	G	18	12978749	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.996486009380006	0.688
18	12978749	A	C	18	12978750	y	y	splicing	SEH1L(NM_031216:exon6:c.621-2A>C;NM_001013437:exon6:c.621-2A>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.621-2A>C;ENST00000399892:exon6:c.621-2A>C;ENST00000587761:exon7:c.681-2A>C)	.	.	0.999988247793601	0.926
18	12978749	A	G	18	12978750	y	y	splicing	SEH1L(NM_031216:exon6:c.621-2A>G;NM_001013437:exon6:c.621-2A>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.621-2A>G;ENST00000399892:exon6:c.621-2A>G;ENST00000587761:exon7:c.681-2A>G)	.	.	0.999988247793601	0.926
18	12978749	A	T	18	12978750	y	y	splicing	SEH1L(NM_031216:exon6:c.621-2A>T;NM_001013437:exon6:c.621-2A>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.621-2A>T;ENST00000399892:exon6:c.621-2A>T;ENST00000587761:exon7:c.681-2A>T)	.	.	0.999988247793601	0.926
18	12978750	G	A	18	12978751	y	y	splicing	SEH1L(NM_031216:exon6:c.621-1G>A;NM_001013437:exon6:c.621-1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.621-1G>A;ENST00000399892:exon6:c.621-1G>A;ENST00000587761:exon7:c.681-1G>A)	.	.	0.999986675681007	0.934
18	12978750	G	C	18	12978751	y	y	splicing	SEH1L(NM_031216:exon6:c.621-1G>C;NM_001013437:exon6:c.621-1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.621-1G>C;ENST00000399892:exon6:c.621-1G>C;ENST00000587761:exon7:c.681-1G>C)	.	.	0.999986675681007	0.934
18	12978750	G	T	18	12978751	y	y	splicing	SEH1L(NM_031216:exon6:c.621-1G>T;NM_001013437:exon6:c.621-1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.621-1G>T;ENST00000399892:exon6:c.621-1G>T;ENST00000587761:exon7:c.681-1G>T)	.	.	0.999986675681007	0.934
18	12978751	G	A	18	12978752	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon6:c.G621A:p.R207R;SEH1L:NM_001013437:exon6:c.G621A:p.R207R;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G621A:p.R207R;ENSG00000085415:ENST00000587761:exon7:c.G681A:p.R227R;ENSG00000085415:ENST00000399892:exon6:c.G621A:p.R207R;	0.0818198388980961	0.344
18	12978751	G	C	18	12978752	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.G621C:p.R207S;SEH1L:NM_001013437:exon6:c.G621C:p.R207S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G621C:p.R207S;ENSG00000085415:ENST00000587761:exon7:c.G681C:p.R227S;ENSG00000085415:ENST00000399892:exon6:c.G621C:p.R207S;	0.921620146521108	0.812
18	12978751	G	T	18	12978752	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.G621T:p.R207S;SEH1L:NM_001013437:exon6:c.G621T:p.R207S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G621T:p.R207S;ENSG00000085415:ENST00000587761:exon7:c.G681T:p.R227S;ENSG00000085415:ENST00000399892:exon6:c.G621T:p.R207S;	0.981245109167306	0.868
18	12978752	A	C	18	12978753	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.A622C:p.K208Q;SEH1L:NM_001013437:exon6:c.A622C:p.K208Q;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.A622C:p.K208Q;ENSG00000085415:ENST00000587761:exon7:c.A682C:p.K228Q;ENSG00000085415:ENST00000399892:exon6:c.A622C:p.K208Q;	0.807819605818469	0.81
18	12978752	A	G	18	12978753	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.A622G:p.K208E;SEH1L:NM_001013437:exon6:c.A622G:p.K208E;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.A622G:p.K208E;ENSG00000085415:ENST00000587761:exon7:c.A682G:p.K228E;ENSG00000085415:ENST00000399892:exon6:c.A622G:p.K208E;	0.834870060458993	0.664
18	12978752	A	T	18	12978753	y	y	exonic	SEH1L	stopgain SNV	SEH1L:NM_031216:exon6:c.A622T:p.K208X;SEH1L:NM_001013437:exon6:c.A622T:p.K208X;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000262124:exon6:c.A622T:p.K208X;ENSG00000085415:ENST00000587761:exon7:c.A682T:p.K228X;ENSG00000085415:ENST00000399892:exon6:c.A622T:p.K208X;	0.788042230531573	0.774
18	12978889	G	A	18	12978890	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon6:c.G759A:p.V253V;SEH1L:NM_001013437:exon6:c.G759A:p.V253V;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G759A:p.V253V;ENSG00000085415:ENST00000399892:exon6:c.G759A:p.V253V;	2.85754475132664E-4	0.01
18	12978889	G	C	18	12978890	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon6:c.G759C:p.V253V;SEH1L:NM_001013437:exon6:c.G759C:p.V253V;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G759C:p.V253V;ENSG00000085415:ENST00000399892:exon6:c.G759C:p.V253V;	4.67263969505705E-4	0.008
18	12978889	G	T	18	12978890	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon6:c.G759T:p.V253V;SEH1L:NM_001013437:exon6:c.G759T:p.V253V;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G759T:p.V253V;ENSG00000085415:ENST00000399892:exon6:c.G759T:p.V253V;	0.0059702418215873	0.13
18	12978890	A	C	18	12978891	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon6:c.A760C:p.R254R;SEH1L:NM_001013437:exon6:c.A760C:p.R254R;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.A760C:p.R254R;ENSG00000085415:ENST00000399892:exon6:c.A760C:p.R254R;	0.929020748251003	0.808
18	12978890	A	G	18	12978891	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.A760G:p.R254G;SEH1L:NM_001013437:exon6:c.A760G:p.R254G;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.A760G:p.R254G;ENSG00000085415:ENST00000399892:exon6:c.A760G:p.R254G;	0.959886524570707	0.794
18	12978890	A	T	18	12978891	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.A760T:p.R254W;SEH1L:NM_001013437:exon6:c.A760T:p.R254W;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.A760T:p.R254W;ENSG00000085415:ENST00000399892:exon6:c.A760T:p.R254W;	0.964275923183145	0.776
18	12978891	G	A	18	12978892	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.G761A:p.R254K;SEH1L:NM_001013437:exon6:c.G761A:p.R254K;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G761A:p.R254K;ENSG00000085415:ENST00000399892:exon6:c.G761A:p.R254K;	0.998555323607185	0.908
18	12978891	G	C	18	12978892	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.G761C:p.R254T;SEH1L:NM_001013437:exon6:c.G761C:p.R254T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G761C:p.R254T;ENSG00000085415:ENST00000399892:exon6:c.G761C:p.R254T;	0.986276752346569	0.872
18	12978891	G	T	18	12978892	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon6:c.G761T:p.R254M;SEH1L:NM_001013437:exon6:c.G761T:p.R254M;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon6:c.G761T:p.R254M;ENSG00000085415:ENST00000399892:exon6:c.G761T:p.R254M;	0.999538427166383	0.96
18	12978892	G	A	18	12978893	y	y	splicing	SEH1L(NM_031216:exon6:c.761+1G>A;NM_001013437:exon6:c.761+1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.761+1G>A;ENST00000399892:exon6:c.761+1G>A)	.	.	0.999986675681007	0.934
18	12978892	G	C	18	12978893	y	y	splicing	SEH1L(NM_031216:exon6:c.761+1G>C;NM_001013437:exon6:c.761+1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.761+1G>C;ENST00000399892:exon6:c.761+1G>C)	.	.	0.999986675681007	0.934
18	12978892	G	T	18	12978893	y	y	splicing	SEH1L(NM_031216:exon6:c.761+1G>T;NM_001013437:exon6:c.761+1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.761+1G>T;ENST00000399892:exon6:c.761+1G>T)	.	.	0.999986675681007	0.934
18	12978893	T	A	18	12978894	y	y	splicing	SEH1L(NM_031216:exon6:c.761+2T>A;NM_001013437:exon6:c.761+2T>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.761+2T>A;ENST00000399892:exon6:c.761+2T>A)	.	.	0.999989917668626	0.928
18	12978893	T	C	18	12978894	y	y	splicing	SEH1L(NM_031216:exon6:c.761+2T>C;NM_001013437:exon6:c.761+2T>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.761+2T>C;ENST00000399892:exon6:c.761+2T>C)	.	.	0.999927254940125	0.856
18	12978893	T	G	18	12978894	y	y	splicing	SEH1L(NM_031216:exon6:c.761+2T>G;NM_001013437:exon6:c.761+2T>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon6:c.761+2T>G;ENST00000399892:exon6:c.761+2T>G)	.	.	0.999989917668626	0.928
18	12978894	G	A	18	12978895	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.43942734861152E-5	0.002
18	12978894	G	C	18	12978895	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0123320992421942	0.204
18	12978894	G	T	18	12978895	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0147791060871629	0.204
18	12978895	A	C	18	12978896	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.950455702259772	0.668
18	12978895	A	G	18	12978896	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.994599119743574	0.818
18	12978895	A	T	18	12978896	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.990499030570493	0.768
18	12978896	G	A	18	12978897	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999513802156227	0.932
18	12978896	G	C	18	12978897	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.997237615169686	0.826
18	12978896	G	T	18	12978897	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999204992510793	0.88
18	12978897	T	A	18	12978898	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.345169378737063	0.332
18	12978897	T	C	18	12978898	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.037706090506364	0.196
18	12978897	T	G	18	12978898	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00761397155933868	0.198
18	12978898	T	A	18	12978899	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00264446947057645	0.014
18	12978898	T	C	18	12978899	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00209762010203615	0.012
18	12978898	T	G	18	12978899	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00209762010203615	0.012
18	12978899	T	A	18	12978900	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.74380010901581E-4	0.02
18	12978899	T	C	18	12978900	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.62947629071832E-4	0.012
18	12978899	T	G	18	12978900	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.76181163618318E-4	0.024
18	12982505	T	A	18	12982506	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.341592291118197	0.506
18	12982505	T	C	18	12982506	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00391700970247403	0.09
18	12982505	T	G	18	12982506	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.450367336688061	0.538
18	12982506	T	A	18	12982507	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.683779235975477	0.552
18	12982506	T	C	18	12982507	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00318860635413384	0.218
18	12982506	T	G	18	12982507	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.348195901592921	0.404
18	12982507	T	A	18	12982508	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.852369955382653	0.67
18	12982507	T	C	18	12982508	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00447768511905656	0.138
18	12982507	T	G	18	12982508	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.903392886815288	0.664
18	12982508	T	A	18	12982509	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00784247228795321	0.224
18	12982508	T	C	18	12982509	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.16836962182343E-4	0.038
18	12982508	T	G	18	12982509	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00412175299005118	0.238
18	12982509	A	C	18	12982510	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.34204639060206E-4	0.022
18	12982509	A	G	18	12982510	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.00852345053452E-4	0.006
18	12982509	A	T	18	12982510	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.16940974883365E-4	0.022
18	12982510	T	A	18	12982511	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0191540685909338	0.242
18	12982510	T	C	18	12982511	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.19217615730182E-5	0.016
18	12982510	T	G	18	12982511	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999967644233962	0.99
18	12982511	T	A	18	12982512	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.050658239820822	0.238
18	12982511	T	C	18	12982512	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.78388692509404E-4	0.034
18	12982511	T	G	18	12982512	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0375926959579193	0.274
18	12982512	A	C	18	12982513	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.713838207973E-5	0.006
18	12982512	A	G	18	12982513	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.30631356941741E-4	0.044
18	12982512	A	T	18	12982513	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.69783111918096E-5	0.012
18	12982513	A	C	18	12982514	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.34550275477577E-4	0.002
18	12982513	A	G	18	12982514	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.939408056076052	0.808
18	12982513	A	T	18	12982514	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.60093383825822E-5	0.002
18	12982514	C	A	18	12982515	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.697183320130246	0.544
18	12982514	C	G	18	12982515	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999509594664081	0.8
18	12982514	C	T	18	12982515	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0011713596158697	0.208
18	12982515	A	C	18	12982516	y	y	splicing	SEH1L(NM_031216:exon7:c.762-2A>C;NM_001013437:exon7:c.762-2A>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.762-2A>C;ENST00000399892:exon7:c.762-2A>C)	.	.	0.999986741007567	0.934
18	12982515	A	G	18	12982516	y	y	splicing	SEH1L(NM_031216:exon7:c.762-2A>G;NM_001013437:exon7:c.762-2A>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.762-2A>G;ENST00000399892:exon7:c.762-2A>G)	.	.	0.999986741007567	0.934
18	12982515	A	T	18	12982516	y	y	splicing	SEH1L(NM_031216:exon7:c.762-2A>T;NM_001013437:exon7:c.762-2A>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.762-2A>T;ENST00000399892:exon7:c.762-2A>T)	.	.	0.999986741007567	0.934
18	12982516	G	A	18	12982517	y	y	splicing	SEH1L(NM_031216:exon7:c.762-1G>A;NM_001013437:exon7:c.762-1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.762-1G>A;ENST00000399892:exon7:c.762-1G>A)	.	.	0.999990729859417	0.948
18	12982516	G	C	18	12982517	y	y	splicing	SEH1L(NM_031216:exon7:c.762-1G>C;NM_001013437:exon7:c.762-1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.762-1G>C;ENST00000399892:exon7:c.762-1G>C)	.	.	0.999990729859417	0.948
18	12982516	G	T	18	12982517	y	y	splicing	SEH1L(NM_031216:exon7:c.762-1G>T;NM_001013437:exon7:c.762-1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.762-1G>T;ENST00000399892:exon7:c.762-1G>T)	.	.	0.999990729859417	0.948
18	12982517	G	A	18	12982518	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon7:c.G762A:p.R254R;SEH1L:NM_001013437:exon7:c.G762A:p.R254R;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.G762A:p.R254R;ENSG00000085415:ENST00000399892:exon7:c.G762A:p.R254R;	0.229114111709423	0.398
18	12982517	G	C	18	12982518	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.G762C:p.R254S;SEH1L:NM_001013437:exon7:c.G762C:p.R254S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.G762C:p.R254S;ENSG00000085415:ENST00000399892:exon7:c.G762C:p.R254S;	0.352382782879467	0.468
18	12982517	G	T	18	12982518	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.G762T:p.R254S;SEH1L:NM_001013437:exon7:c.G762T:p.R254S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.G762T:p.R254S;ENSG00000085415:ENST00000399892:exon7:c.G762T:p.R254S;	0.6341527081009	0.49
18	12982518	A	C	18	12982519	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.A763C:p.K255Q;SEH1L:NM_001013437:exon7:c.A763C:p.K255Q;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.A763C:p.K255Q;ENSG00000085415:ENST00000399892:exon7:c.A763C:p.K255Q;	0.00249054218932158	0.09
18	12982518	A	G	18	12982519	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.A763G:p.K255E;SEH1L:NM_001013437:exon7:c.A763G:p.K255E;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.A763G:p.K255E;ENSG00000085415:ENST00000399892:exon7:c.A763G:p.K255E;	0.00148773199482747	0.066
18	12982518	A	T	18	12982519	y	y	exonic	SEH1L	stopgain SNV	SEH1L:NM_031216:exon7:c.A763T:p.K255X;SEH1L:NM_001013437:exon7:c.A763T:p.K255X;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000262124:exon7:c.A763T:p.K255X;ENSG00000085415:ENST00000399892:exon7:c.A763T:p.K255X;	0.0656686085239619	0.426
18	12982672	A	C	18	12982673	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.A917C:p.K306T;SEH1L:NM_001013437:exon7:c.A917C:p.K306T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.A917C:p.K306T;ENSG00000085415:ENST00000399892:exon7:c.A917C:p.K306T;	0.788709845387255	0.642
18	12982672	A	G	18	12982673	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.A917G:p.K306R;SEH1L:NM_001013437:exon7:c.A917G:p.K306R;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.A917G:p.K306R;ENSG00000085415:ENST00000399892:exon7:c.A917G:p.K306R;	0.304667731075563	0.422
18	12982672	A	T	18	12982673	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.A917T:p.K306I;SEH1L:NM_001013437:exon7:c.A917T:p.K306I;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.A917T:p.K306I;ENSG00000085415:ENST00000399892:exon7:c.A917T:p.K306I;	0.978077153002765	0.682
18	12982673	A	C	18	12982674	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.A918C:p.K306N;SEH1L:NM_001013437:exon7:c.A918C:p.K306N;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.A918C:p.K306N;ENSG00000085415:ENST00000399892:exon7:c.A918C:p.K306N;	0.993810164048006	0.898
18	12982673	A	G	18	12982674	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon7:c.A918G:p.K306K;SEH1L:NM_001013437:exon7:c.A918G:p.K306K;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.A918G:p.K306K;ENSG00000085415:ENST00000399892:exon7:c.A918G:p.K306K;	0.934225963970281	0.756
18	12982673	A	T	18	12982674	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.A918T:p.K306N;SEH1L:NM_001013437:exon7:c.A918T:p.K306N;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.A918T:p.K306N;ENSG00000085415:ENST00000399892:exon7:c.A918T:p.K306N;	0.992998714516334	0.7
18	12982674	G	A	18	12982675	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.G919A:p.A307T;SEH1L:NM_001013437:exon7:c.G919A:p.A307T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.G919A:p.A307T;ENSG00000085415:ENST00000399892:exon7:c.G919A:p.A307T;	0.999908529614738	0.968
18	12982674	G	C	18	12982675	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.G919C:p.A307P;SEH1L:NM_001013437:exon7:c.G919C:p.A307P;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.G919C:p.A307P;ENSG00000085415:ENST00000399892:exon7:c.G919C:p.A307P;	0.999955520438191	0.946
18	12982674	G	T	18	12982675	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon7:c.G919T:p.A307S;SEH1L:NM_001013437:exon7:c.G919T:p.A307S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon7:c.G919T:p.A307S;ENSG00000085415:ENST00000399892:exon7:c.G919T:p.A307S;	0.999940990671608	0.95
18	12982675	G	A	18	12982676	y	y	splicing	SEH1L(NM_031216:exon7:c.919+1G>A;NM_001013437:exon7:c.919+1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.919+1G>A;ENST00000399892:exon7:c.919+1G>A)	.	.	0.999991790889593	0.926
18	12982675	G	C	18	12982676	y	y	splicing	SEH1L(NM_031216:exon7:c.919+1G>C;NM_001013437:exon7:c.919+1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.919+1G>C;ENST00000399892:exon7:c.919+1G>C)	.	.	0.999991790889593	0.926
18	12982675	G	T	18	12982676	y	y	splicing	SEH1L(NM_031216:exon7:c.919+1G>T;NM_001013437:exon7:c.919+1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.919+1G>T;ENST00000399892:exon7:c.919+1G>T)	.	.	0.999991790889593	0.926
18	12982676	T	A	18	12982677	y	y	splicing	SEH1L(NM_031216:exon7:c.919+2T>A;NM_001013437:exon7:c.919+2T>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.919+2T>A;ENST00000399892:exon7:c.919+2T>A)	.	.	0.999992446697775	0.93
18	12982676	T	C	18	12982677	y	y	splicing	SEH1L(NM_031216:exon7:c.919+2T>C;NM_001013437:exon7:c.919+2T>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.919+2T>C;ENST00000399892:exon7:c.919+2T>C)	.	.	0.993808943985639	0.634
18	12982676	T	G	18	12982677	y	y	splicing	SEH1L(NM_031216:exon7:c.919+2T>G;NM_001013437:exon7:c.919+2T>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon7:c.919+2T>G;ENST00000399892:exon7:c.919+2T>G)	.	.	0.999992446697775	0.93
18	12982677	A	C	18	12982678	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.998731305288319	0.946
18	12982677	A	G	18	12982678	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.70534309408804	0.438
18	12982677	A	T	18	12982678	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.998890209814165	0.944
18	12982678	A	C	18	12982679	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.163678252568671	0.302
18	12982678	A	G	18	12982679	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.431317314396904	0.376
18	12982678	A	T	18	12982679	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.274864490514107	0.262
18	12982679	G	A	18	12982680	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.909861737506565	0.456
18	12982679	G	C	18	12982680	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.515420077000299	0.41
18	12982679	G	T	18	12982680	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.825699233575019	0.434
18	12982680	A	C	18	12982681	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.46586194429622E-4	0.012
18	12982680	A	G	18	12982681	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	9.10167330134841E-5	0.0
18	12982680	A	T	18	12982681	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.12526919423497E-5	0.08
18	12982681	G	A	18	12982682	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.81159136363845E-5	0.0
18	12982681	G	C	18	12982682	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.81159136363845E-5	0.0
18	12982681	G	T	18	12982682	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.14468490257208E-5	0.0
18	12982682	T	A	18	12982683	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.6351096143133E-5	0.004
18	12982682	T	C	18	12982683	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.69791999527781E-5	0.0
18	12982682	T	G	18	12982683	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	7.04653192244356E-5	0.002
18	12984027	T	A	18	12984028	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00343401893656573	0.108
18	12984027	T	C	18	12984028	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	4.52263622374741E-4	0.012
18	12984027	T	G	18	12984028	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999844001854888	0.932
18	12984028	T	A	18	12984029	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.895753464401916	0.546
18	12984028	T	C	18	12984029	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.438248857674826	0.29
18	12984028	T	G	18	12984029	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.859939655124404	0.512
18	12984029	T	A	18	12984030	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.904644677127437	0.522
18	12984029	T	C	18	12984030	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.251407320108671	0.324
18	12984029	T	G	18	12984030	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.799323993981479	0.408
18	12984030	T	A	18	12984031	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0521779472485562	0.196
18	12984030	T	C	18	12984031	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00410042949592069	0.124
18	12984030	T	G	18	12984031	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0427451342627282	0.198
18	12984031	C	A	18	12984032	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00169306329038256	0.19
18	12984031	C	G	18	12984032	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00320819326563879	0.194
18	12984031	C	T	18	12984032	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.02576164122595E-5	0.002
18	12984032	C	A	18	12984033	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00272621814197797	0.198
18	12984032	C	G	18	12984033	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00108885437954723	0.084
18	12984032	C	T	18	12984033	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	6.16534031720971E-5	0.0
18	12984033	T	A	18	12984034	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0221259563528788	0.264
18	12984033	T	C	18	12984034	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00737297066363468	0.076
18	12984033	T	G	18	12984034	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.106136657938304	0.258
18	12984034	T	A	18	12984035	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.21528860764654	0.352
18	12984034	T	C	18	12984035	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0128944668873122	0.156
18	12984034	T	G	18	12984035	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.057176796242635	0.368
18	12984035	T	A	18	12984036	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.07355552718074E-4	0.0
18	12984035	T	C	18	12984036	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.44260508428789E-4	0.014
18	12984035	T	G	18	12984036	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	5.972884635895E-5	0.002
18	12984036	C	A	18	12984037	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.708452884774257	0.644
18	12984036	C	G	18	12984037	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999732251004825	0.96
18	12984036	C	T	18	12984037	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0111383937884155	0.086
18	12984037	A	C	18	12984038	y	y	splicing	SEH1L(NM_031216:exon8:c.920-2A>C;NM_001013437:exon8:c.920-2A>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.920-2A>C;ENST00000399892:exon8:c.920-2A>C)	.	.	0.999988247793601	0.932
18	12984037	A	G	18	12984038	y	y	splicing	SEH1L(NM_031216:exon8:c.920-2A>G;NM_001013437:exon8:c.920-2A>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.920-2A>G;ENST00000399892:exon8:c.920-2A>G)	.	.	0.999988247793601	0.932
18	12984037	A	T	18	12984038	y	y	splicing	SEH1L(NM_031216:exon8:c.920-2A>T;NM_001013437:exon8:c.920-2A>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.920-2A>T;ENST00000399892:exon8:c.920-2A>T)	.	.	0.999988247793601	0.932
18	12984038	G	A	18	12984039	y	y	splicing	SEH1L(NM_031216:exon8:c.920-1G>A;NM_001013437:exon8:c.920-1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.920-1G>A;ENST00000399892:exon8:c.920-1G>A)	.	.	0.999989072007339	0.934
18	12984038	G	C	18	12984039	y	y	splicing	SEH1L(NM_031216:exon8:c.920-1G>C;NM_001013437:exon8:c.920-1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.920-1G>C;ENST00000399892:exon8:c.920-1G>C)	.	.	0.999989072007339	0.934
18	12984038	G	T	18	12984039	y	y	splicing	SEH1L(NM_031216:exon8:c.920-1G>T;NM_001013437:exon8:c.920-1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.920-1G>T;ENST00000399892:exon8:c.920-1G>T)	.	.	0.999989072007339	0.934
18	12984039	C	A	18	12984040	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon8:c.C920A:p.A307D;SEH1L:NM_001013437:exon8:c.C920A:p.A307D;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.C920A:p.A307D;ENSG00000085415:ENST00000399892:exon8:c.C920A:p.A307D;	0.965971594819138	0.794
18	12984039	C	G	18	12984040	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon8:c.C920G:p.A307G;SEH1L:NM_001013437:exon8:c.C920G:p.A307G;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.C920G:p.A307G;ENSG00000085415:ENST00000399892:exon8:c.C920G:p.A307G;	0.951786881544117	0.644
18	12984039	C	T	18	12984040	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon8:c.C920T:p.A307V;SEH1L:NM_001013437:exon8:c.C920T:p.A307V;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.C920T:p.A307V;ENSG00000085415:ENST00000399892:exon8:c.C920T:p.A307V;	0.996072202025023	0.954
18	12984040	T	A	18	12984041	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon8:c.T921A:p.A307A;SEH1L:NM_001013437:exon8:c.T921A:p.A307A;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.T921A:p.A307A;ENSG00000085415:ENST00000399892:exon8:c.T921A:p.A307A;	9.21625815624132E-4	0.19
18	12984040	T	C	18	12984041	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon8:c.T921C:p.A307A;SEH1L:NM_001013437:exon8:c.T921C:p.A307A;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.T921C:p.A307A;ENSG00000085415:ENST00000399892:exon8:c.T921C:p.A307A;	7.5116096542721E-4	0.304
18	12984040	T	G	18	12984041	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon8:c.T921G:p.A307A;SEH1L:NM_001013437:exon8:c.T921G:p.A307A;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.T921G:p.A307A;ENSG00000085415:ENST00000399892:exon8:c.T921G:p.A307A;	6.6066353688573E-5	0.05
18	12984187	C	A	18	12984188	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon8:c.C1068A:p.G356G;SEH1L:NM_001013437:exon8:c.C1068A:p.G356G;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.C1068A:p.G356G;ENSG00000085415:ENST00000399892:exon8:c.C1068A:p.G356G;	0.0287301390877748	0.13
18	12984187	C	G	18	12984188	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon8:c.C1068G:p.G356G;SEH1L:NM_001013437:exon8:c.C1068G:p.G356G;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.C1068G:p.G356G;ENSG00000085415:ENST00000399892:exon8:c.C1068G:p.G356G;	0.0293711569262137	0.16
18	12984187	C	T	18	12984188	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon8:c.C1068T:p.G356G;SEH1L:NM_001013437:exon8:c.C1068T:p.G356G;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.C1068T:p.G356G;ENSG00000085415:ENST00000399892:exon8:c.C1068T:p.G356G;	0.947277555995402	0.828
18	12984188	A	C	18	12984189	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon8:c.A1069C:p.R357R;SEH1L:NM_001013437:exon8:c.A1069C:p.R357R;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.A1069C:p.R357R;ENSG00000085415:ENST00000399892:exon8:c.A1069C:p.R357R;	0.999010395939964	0.984
18	12984188	A	G	18	12984189	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon8:c.A1069G:p.R357G;SEH1L:NM_001013437:exon8:c.A1069G:p.R357G;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.A1069G:p.R357G;ENSG00000085415:ENST00000399892:exon8:c.A1069G:p.R357G;	0.999722678050088	0.998
18	12984188	A	T	18	12984189	y	y	exonic	SEH1L	stopgain SNV	SEH1L:NM_031216:exon8:c.A1069T:p.R357X;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000262124:exon8:c.A1069T:p.R357X;	0.999797111500179	0.99
18	12984189	G	A	18	12984190	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon8:c.G1070A:p.R357K;SEH1L:NM_001013437:exon8:c.G1070A:p.R357K;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.G1070A:p.R357K;ENSG00000085415:ENST00000399892:exon8:c.G1070A:p.R357K;	0.999962437812689	0.996
18	12984189	G	C	18	12984190	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon8:c.G1070C:p.R357T;SEH1L:NM_001013437:exon8:c.G1070C:p.R357T;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.G1070C:p.R357T;ENSG00000085415:ENST00000399892:exon8:c.G1070C:p.R357T;	0.999995284624261	0.99
18	12984189	G	T	18	12984190	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon8:c.G1070T:p.R357I;SEH1L:NM_001013437:exon8:c.G1070T:p.R357M;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon8:c.G1070T:p.R357I;ENSG00000085415:ENST00000399892:exon8:c.G1070T:p.R357M;	0.999985480265562	0.998
18	12984190	G	A	18	12984191	y	y	splicing	SEH1L(NM_031216:exon8:c.1070+1G>A;NM_001013437:exon8:c.1070+1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.1070+1G>A;ENST00000399892:exon8:c.1070+1G>A)	.	.	0.999988247793601	0.928
18	12984190	G	C	18	12984191	y	y	splicing	SEH1L(NM_031216:exon8:c.1070+1G>C;NM_001013437:exon8:c.1070+1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.1070+1G>C;ENST00000399892:exon8:c.1070+1G>C)	.	.	0.999988247793601	0.928
18	12984190	G	T	18	12984191	y	y	splicing	SEH1L(NM_031216:exon8:c.1070+1G>T;NM_001013437:exon8:c.1070+1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.1070+1G>T;ENST00000399892:exon8:c.1070+1G>T)	.	.	0.999988247793601	0.928
18	12984191	T	A	18	12984192	y	y	splicing	SEH1L(NM_031216:exon8:c.1070+2T>A;NM_001013437:exon8:c.1070+2T>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.1070+2T>A;ENST00000399892:exon8:c.1070+2T>A)	.	.	0.999993519952936	0.93
18	12984191	T	C	18	12984192	y	y	splicing	SEH1L(NM_031216:exon8:c.1070+2T>C;NM_001013437:exon8:c.1070+2T>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.1070+2T>C;ENST00000399892:exon8:c.1070+2T>C)	.	.	0.993596150545159	0.624
18	12984191	T	G	18	12984192	y	y	splicing	SEH1L(NM_031216:exon8:c.1070+2T>G;NM_001013437:exon8:c.1070+2T>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon8:c.1070+2T>G;ENST00000399892:exon8:c.1070+2T>G)	.	.	0.999993519952936	0.93
18	12984192	A	C	18	12984193	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.995691673332112	0.934
18	12984192	A	G	18	12984193	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.991322399322077	0.804
18	12984192	A	T	18	12984193	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.999181626201689	0.964
18	12984193	G	A	18	12984194	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00157610236113895	0.05
18	12984193	G	C	18	12984194	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00261221307834518	0.186
18	12984193	G	T	18	12984194	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00182543934076973	0.08
18	12984194	G	A	18	12984195	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.986911070586522	0.688
18	12984194	G	C	18	12984195	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.996181608058753	0.868
18	12984194	G	T	18	12984195	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.998696611808652	0.898
18	12984195	C	A	18	12984196	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00688809690629862	0.108
18	12984195	C	G	18	12984196	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00612257764930376	0.052
18	12984195	C	T	18	12984196	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.002881368540092	0.032
18	12984196	T	A	18	12984197	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.0240680487728163	0.038
18	12984196	T	C	18	12984197	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.00975240370990183	0.042
18	12984196	T	G	18	12984197	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	0.016148890369552	0.02
18	12984197	G	A	18	12984198	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	1.82001655285881E-5	0.0
18	12984197	G	C	18	12984198	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	2.20970807757152E-5	0.002
18	12984197	G	T	18	12984198	y	y	intronic	SEH1L	.	.	intronic	ENSG00000085415	.	.	3.65139869995512E-5	0.004
18	12985227	G	A	18	12985228	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.973192948681948	0.724
18	12985227	G	C	18	12985228	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.968659902901245	0.718
18	12985227	G	T	18	12985228	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.973192948681948	0.728
18	12985228	T	A	18	12985229	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.044435294314274	0.154
18	12985228	T	C	18	12985229	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.0293978879788567	0.15
18	12985228	T	G	18	12985229	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.0293978879788567	0.152
18	12985229	C	A	18	12985230	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.940371251424537	0.734
18	12985229	C	G	18	12985230	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.864799646544413	0.654
18	12985229	C	T	18	12985230	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.935904754775985	0.698
18	12985230	C	A	18	12985231	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.973192948681948	0.728
18	12985230	C	G	18	12985231	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.973192948681948	0.722
18	12985230	C	T	18	12985231	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.973192948681948	0.724
18	12985231	T	A	18	12985232	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00412757614834092	0.032
18	12985231	T	C	18	12985232	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00279295179636867	0.052
18	12985231	T	G	18	12985232	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00279295179636867	0.03
18	12985232	T	A	18	12985233	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00119963348105878	0.018
18	12985232	T	C	18	12985233	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00171142876556109	0.016
18	12985232	T	G	18	12985233	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00171142876556109	0.016
18	12985233	T	A	18	12985234	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.0058555767748796	0.024
18	12985233	T	C	18	12985234	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00296019484787257	0.022
18	12985233	T	G	18	12985234	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00296019484787257	0.022
18	12985234	A	C	18	12985235	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00850229560848459	0.022
18	12985234	A	G	18	12985235	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00850229560848459	0.022
18	12985234	A	T	18	12985235	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00850229560848459	0.026
18	12985235	A	C	18	12985236	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	9.20017387811795E-4	0.016
18	12985235	A	G	18	12985236	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	9.20017387811795E-4	0.016
18	12985235	A	T	18	12985236	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00116674076377048	0.016
18	12985236	C	A	18	12985237	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00720842856246748	0.06
18	12985236	C	G	18	12985237	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.00720842856246748	0.03
18	12985236	C	T	18	12985237	y	y	intronic	SEH1L	.	.	ncRNA_intronic	ENSG00000266969	.	.	0.0106305152589279	0.032
18	12985237	A	C	18	12985238	y	y	splicing	SEH1L(NM_031216:exon9:c.1071-2A>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon9:c.1071-2A>C)	.	.	0.762782195123741	0.694
18	12985237	A	G	18	12985238	y	y	splicing	SEH1L(NM_031216:exon9:c.1071-2A>G)	.	.	splicing	ENSG00000085415(ENST00000262124:exon9:c.1071-2A>G)	.	.	0.762782195123741	0.694
18	12985237	A	T	18	12985238	y	y	splicing	SEH1L(NM_031216:exon9:c.1071-2A>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon9:c.1071-2A>T)	.	.	0.762782195123741	0.7
18	12985238	G	A	18	12985239	y	y	splicing	SEH1L(NM_031216:exon9:c.1071-1G>A)	.	.	splicing	ENSG00000085415(ENST00000262124:exon9:c.1071-1G>A)	.	.	0.988420376663552	0.872
18	12985238	G	C	18	12985239	y	y	splicing	SEH1L(NM_031216:exon9:c.1071-1G>C)	.	.	splicing	ENSG00000085415(ENST00000262124:exon9:c.1071-1G>C)	.	.	0.988420376663552	0.868
18	12985238	G	T	18	12985239	y	y	splicing	SEH1L(NM_031216:exon9:c.1071-1G>T)	.	.	splicing	ENSG00000085415(ENST00000262124:exon9:c.1071-1G>T)	.	.	0.988420376663552	0.874
18	12985239	A	C	18	12985240	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon9:c.A1071C:p.R357S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon9:c.A1071C:p.R357S;	0.0253313923005412	0.172
18	12985239	A	G	18	12985240	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_031216:exon9:c.A1071G:p.R357R;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000262124:exon9:c.A1071G:p.R357R;	0.00561933144286059	0.022
18	12985239	A	T	18	12985240	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon9:c.A1071T:p.R357S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon9:c.A1071T:p.R357S;	0.0665015540131142	0.406
18	12985240	A	C	18	12985241	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon9:c.A1072C:p.K358Q;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon9:c.A1072C:p.K358Q;	0.0255198428549631	0.142
18	12985240	A	G	18	12985241	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_031216:exon9:c.A1072G:p.K358E;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000262124:exon9:c.A1072G:p.K358E;	0.0665015540131142	0.274
18	12985240	A	T	18	12985241	y	y	exonic	SEH1L	stopgain SNV	SEH1L:NM_031216:exon9:c.A1072T:p.K358X;	exonic	ENSG00000085415	stopgain SNV	ENSG00000085415:ENST00000262124:exon9:c.A1072T:p.K358X;	0.844996395753952	0.814
18	12986849	T	A	18	12986850	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.901319870062607	0.67
18	12986849	T	C	18	12986850	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.00347218508495386	0.078
18	12986849	T	G	18	12986850	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.891338191370086	0.638
18	12986850	C	A	18	12986851	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.016054957911216	0.27
18	12986850	C	G	18	12986851	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.0144708272110395	0.264
18	12986850	C	T	18	12986851	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.0113774476493829	0.336
18	12986851	A	C	18	12986852	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	2.71527776271524E-5	0.086
18	12986851	A	G	18	12986852	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	4.71097902994073E-5	0.088
18	12986851	A	T	18	12986852	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	3.1334642052621E-5	0.162
18	12986852	T	A	18	12986853	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.998634193554782	0.832
18	12986852	T	C	18	12986853	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.183563625865185	0.368
18	12986852	T	G	18	12986853	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.999919788416157	0.936
18	12986853	T	A	18	12986854	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.99975127123157	0.954
18	12986853	T	C	18	12986854	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.00600155113650463	0.058
18	12986853	T	G	18	12986854	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.360226220610523	0.378
18	12986854	G	A	18	12986855	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	9.20966559722872E-4	0.028
18	12986854	G	C	18	12986855	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	4.2499409245608E-4	0.014
18	12986854	G	T	18	12986855	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	4.42772478806235E-4	0.01
18	12986855	T	A	18	12986856	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.431516175114054	0.446
18	12986855	T	C	18	12986856	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.00161260543550341	0.07
18	12986855	T	G	18	12986856	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.438523195062681	0.484
18	12986856	T	A	18	12986857	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.910516134780602	0.73
18	12986856	T	C	18	12986857	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.133380951352492	0.158
18	12986856	T	G	18	12986857	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.815466157362349	0.674
18	12986857	T	A	18	12986858	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.0205165365783703	0.1
18	12986857	T	C	18	12986858	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.00453017141238428	0.046
18	12986857	T	G	18	12986858	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.00831699423551364	0.09
18	12986858	C	A	18	12986859	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.949072933347238	0.638
18	12986858	C	G	18	12986859	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.999753586346796	0.968
18	12986858	C	T	18	12986859	y	y	UTR3	SEH1L	.	.	ncRNA_UTR3	ENSG00000085415	.	.	0.0715084712590568	0.136
18	12986859	A	C	18	12986860	y	y	splicing	SEH1L(NM_001013437:exon9:c.1071-2A>C)	.	.	splicing	ENSG00000085415(ENST00000399892:exon9:c.1071-2A>C)	.	.	0.999988247793601	0.926
18	12986859	A	G	18	12986860	y	y	splicing	SEH1L(NM_001013437:exon9:c.1071-2A>G)	.	.	splicing	ENSG00000085415(ENST00000399892:exon9:c.1071-2A>G)	.	.	0.999988247793601	0.926
18	12986859	A	T	18	12986860	y	y	splicing	SEH1L(NM_001013437:exon9:c.1071-2A>T)	.	.	splicing	ENSG00000085415(ENST00000399892:exon9:c.1071-2A>T)	.	.	0.999988247793601	0.926
18	12986860	G	A	18	12986861	y	y	splicing	SEH1L(NM_001013437:exon9:c.1071-1G>A)	.	.	splicing	ENSG00000085415(ENST00000399892:exon9:c.1071-1G>A)	.	.	0.999986675681007	0.93
18	12986860	G	C	18	12986861	y	y	splicing	SEH1L(NM_001013437:exon9:c.1071-1G>C)	.	.	splicing	ENSG00000085415(ENST00000399892:exon9:c.1071-1G>C)	.	.	0.999986675681007	0.93
18	12986860	G	T	18	12986861	y	y	splicing	SEH1L(NM_001013437:exon9:c.1071-1G>T)	.	.	splicing	ENSG00000085415(ENST00000399892:exon9:c.1071-1G>T)	.	.	0.999986675681007	0.93
18	12986861	G	A	18	12986862	y	y	exonic	SEH1L	synonymous SNV	SEH1L:NM_001013437:exon9:c.G1071A:p.R357R;	exonic	ENSG00000085415	synonymous SNV	ENSG00000085415:ENST00000399892:exon9:c.G1071A:p.R357R;	0.51511939376226	0.558
18	12986861	G	C	18	12986862	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_001013437:exon9:c.G1071C:p.R357S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000399892:exon9:c.G1071C:p.R357S;	0.998542757989268	0.946
18	12986861	G	T	18	12986862	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_001013437:exon9:c.G1071T:p.R357S;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000399892:exon9:c.G1071T:p.R357S;	0.999009923784569	0.976
18	12986862	T	A	18	12986863	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_001013437:exon9:c.T1072A:p.Y358N;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000399892:exon9:c.T1072A:p.Y358N;	0.0822527937570205	0.176
18	12986862	T	C	18	12986863	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_001013437:exon9:c.T1072C:p.Y358H;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000399892:exon9:c.T1072C:p.Y358H;	0.0790834496703618	0.282
18	12986862	T	G	18	12986863	y	y	exonic	SEH1L	nonsynonymous SNV	SEH1L:NM_001013437:exon9:c.T1072G:p.Y358D;	exonic	ENSG00000085415	nonsynonymous SNV	ENSG00000085415:ENST00000399892:exon9:c.T1072G:p.Y358D;	0.052903634682092	0.154
18	12991434	T	A	18	12991435	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	3.591678853185E-5	0.0
18	12991434	T	C	18	12991435	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	3.591678853185E-5	0.0
18	12991434	T	G	18	12991435	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	5.02461253469471E-4	0.04
18	12991435	C	A	18	12991436	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	7.99695320343937E-5	0.066
18	12991435	C	G	18	12991436	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	0.00118179096318425	0.05
18	12991435	C	T	18	12991436	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	0.00125767514930229	0.08
18	12991436	G	A	18	12991437	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	0.999933282173189	0.99
18	12991436	G	C	18	12991437	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	0.999903220911792	0.96
18	12991436	G	T	18	12991437	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	0.999788809260115	0.982
18	12991437	G	A	18	12991438	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999970890420065	0.812
18	12991437	G	C	18	12991438	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999984483665306	0.788
18	12991437	G	T	18	12991438	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999970890420065	0.804
18	12991438	T	A	18	12991439	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999973183219666	0.742
18	12991438	T	C	18	12991439	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.99995408072086	0.752
18	12991438	T	G	18	12991439	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999977905793084	0.742
18	12991439	G	A	18	12991440	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.28337894999224E-5	0.0
18	12991439	G	C	18	12991440	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.472875646639077	0.478
18	12991439	G	T	18	12991440	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.631817375938051	0.45
18	12991440	A	C	18	12991441	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.813484313365931	0.584
18	12991440	A	G	18	12991441	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.978275039334757	0.756
18	12991440	A	T	18	12991441	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.983464339150992	0.742
18	12991441	G	A	18	12991442	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999924111617911	0.97
18	12991441	G	C	18	12991442	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999801587186124	0.946
18	12991441	G	T	18	12991442	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999947836209491	0.958
18	12991442	G	A	18	12991443	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.76259583904822E-5	0.002
18	12991442	G	C	18	12991443	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.93661285345033E-5	0.03
18	12991442	G	T	18	12991443	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.06481237244302E-5	0.0
18	12991443	G	A	18	12991444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.12650773005937E-5	0.0
18	12991443	G	C	18	12991444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.78416112795009E-5	0.0
18	12991443	G	T	18	12991444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.38306208674101E-4	0.01
18	12991444	G	A	18	12991445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.73659410988803E-5	0.0
18	12991444	G	C	18	12991445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.78389654127837E-5	0.0
18	12991444	G	T	18	12991445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.45294247953486E-4	0.0
18	12999408	T	A	18	12999409	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.146010335593931	0.502
18	12999408	T	C	18	12999409	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00321331097078812	0.136
18	12999408	T	G	18	12999409	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.226779918083044	0.412
18	12999409	T	A	18	12999410	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999921847876345	0.958
18	12999409	T	C	18	12999410	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0040628515174143	0.198
18	12999409	T	G	18	12999410	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.909765510069319	0.616
18	12999410	G	A	18	12999411	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.39115292355508E-4	0.05
18	12999410	G	C	18	12999411	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.47203427925342E-4	0.014
18	12999410	G	T	18	12999411	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.43425515204956E-4	0.028
18	12999411	T	A	18	12999412	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.38895068179418	0.582
18	12999411	T	C	18	12999412	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00773558488951036	0.114
18	12999411	T	G	18	12999412	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.367701357568834	0.508
18	12999412	T	A	18	12999413	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0259031930938552	0.264
18	12999412	T	C	18	12999413	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.3354772385832E-5	0.0
18	12999412	T	G	18	12999413	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.126487175023513	0.336
18	12999413	A	C	18	12999414	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.58468788262976E-5	0.016
18	12999413	A	G	18	12999414	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.53227639653315E-5	0.002
18	12999413	A	T	18	12999414	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.58468788262976E-5	0.006
18	12999414	T	A	18	12999415	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.811972800683553	0.67
18	12999414	T	C	18	12999415	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.61815921656253E-4	0.114
18	12999414	T	G	18	12999415	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999930616429241	0.968
18	12999415	T	A	18	12999416	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999957021729319	0.968
18	12999415	T	C	18	12999416	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0684576870371612	0.198
18	12999415	T	G	18	12999416	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.93232730900617	0.586
18	12999416	G	A	18	12999417	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.73169356182766E-4	0.022
18	12999416	G	C	18	12999417	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.25568356476342E-5	0.004
18	12999416	G	T	18	12999417	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.87578929257809E-4	0.0
18	12999417	C	A	18	12999418	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998905510465693	0.748
18	12999417	C	G	18	12999418	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99962427270493	0.844
18	12999417	C	T	18	12999418	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00537092148661062	0.242
18	12999418	A	C	18	12999419	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999989917668626	0.94
18	12999418	A	G	18	12999419	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999989917668626	0.94
18	12999418	A	T	18	12999419	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999989917668626	0.94
18	12999419	G	A	18	12999420	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999986675681007	0.948
18	12999419	G	C	18	12999420	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999986675681007	0.95
18	12999419	G	T	18	12999420	y	y	splicing	CEP192	.	.	splicing	ENSG00000101639	.	.	0.999986675681007	0.95
18	12999420	T	A	18	12999421	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	3.57271425313171E-4	0.01
18	12999420	T	C	18	12999421	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	4.80730016108436E-4	0.024
18	12999420	T	G	18	12999421	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	7.38222548151422E-4	0.116
18	12999421	G	A	18	12999422	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	0.00159619008276886	0.098
18	12999421	G	C	18	12999422	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	0.00110379220363815	0.046
18	12999421	G	T	18	12999422	y	y	UTR5	CEP192	.	.	UTR5	ENSG00000101639	.	.	9.50695280451611E-4	0.0
18	12999585	C	A	18	12999586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon2:c.C162A:p.N54K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon2:c.C162A:p.N54K;ENSG00000101639:ENST00000589596:exon2:c.C162A:p.N54K;ENSG00000101639:ENST00000507064:exon2:c.C162A:p.N54K;	1.46843997812315E-4	0.134
18	12999585	C	G	18	12999586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon2:c.C162G:p.N54K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon2:c.C162G:p.N54K;ENSG00000101639:ENST00000589596:exon2:c.C162G:p.N54K;ENSG00000101639:ENST00000507064:exon2:c.C162G:p.N54K;	8.31124584170143E-5	0.074
18	12999585	C	T	18	12999586	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon2:c.C162T:p.N54N;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon2:c.C162T:p.N54N;ENSG00000101639:ENST00000589596:exon2:c.C162T:p.N54N;ENSG00000101639:ENST00000507064:exon2:c.C162T:p.N54N;	0.00293509386678762	0.146
18	12999586	A	C	18	12999587	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon2:c.A163C:p.R55R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon2:c.A163C:p.R55R;ENSG00000101639:ENST00000589596:exon2:c.A163C:p.R55R;ENSG00000101639:ENST00000507064:exon2:c.A163C:p.R55R;	0.86242332292085	0.704
18	12999586	A	G	18	12999587	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon2:c.A163G:p.R55G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon2:c.A163G:p.R55G;ENSG00000101639:ENST00000589596:exon2:c.A163G:p.R55G;ENSG00000101639:ENST00000507064:exon2:c.A163G:p.R55G;	0.990068075646882	0.918
18	12999586	A	T	18	12999587	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon2:c.A163T:p.R55W;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000507064:exon2:c.A163T:p.R55X;	0.983342003313471	0.586
18	12999587	G	A	18	12999588	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon2:c.G164A:p.R55K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon2:c.G164A:p.R55K;ENSG00000101639:ENST00000589596:exon2:c.G164A:p.R55K;ENSG00000101639:ENST00000507064:exon2:c.G164A:p.R55K;	0.998727025420975	0.946
18	12999587	G	C	18	12999588	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon2:c.G164C:p.R55T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon2:c.G164C:p.R55T;ENSG00000101639:ENST00000589596:exon2:c.G164C:p.R55T;ENSG00000101639:ENST00000507064:exon2:c.G164C:p.R55T;	0.999927393884805	0.97
18	12999587	G	T	18	12999588	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon2:c.G164T:p.R55M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon2:c.G164T:p.R55M;ENSG00000101639:ENST00000589596:exon2:c.G164T:p.R55M;ENSG00000101639:ENST00000507064:exon2:c.G164T:p.R55I;	0.999940200523685	0.966
18	12999588	G	A	18	12999589	y	y	splicing	CEP192(NM_032142:exon2:c.164+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon2:c.164+1G>A;ENST00000589596:exon2:c.164+1G>A;ENST00000507064:exon2:c.164+1G>A)	.	.	0.999986675681007	0.93
18	12999588	G	C	18	12999589	y	y	splicing	CEP192(NM_032142:exon2:c.164+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon2:c.164+1G>C;ENST00000589596:exon2:c.164+1G>C;ENST00000507064:exon2:c.164+1G>C)	.	.	0.999986675681007	0.928
18	12999588	G	T	18	12999589	y	y	splicing	CEP192(NM_032142:exon2:c.164+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon2:c.164+1G>T;ENST00000589596:exon2:c.164+1G>T;ENST00000507064:exon2:c.164+1G>T)	.	.	0.999986675681007	0.928
18	12999589	T	A	18	12999590	y	y	splicing	CEP192(NM_032142:exon2:c.164+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon2:c.164+2T>A;ENST00000589596:exon2:c.164+2T>A;ENST00000507064:exon2:c.164+2T>A)	.	.	0.999989917668626	0.928
18	12999589	T	C	18	12999590	y	y	splicing	CEP192(NM_032142:exon2:c.164+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon2:c.164+2T>C;ENST00000589596:exon2:c.164+2T>C;ENST00000507064:exon2:c.164+2T>C)	.	.	0.988042962918841	0.596
18	12999589	T	G	18	12999590	y	y	splicing	CEP192(NM_032142:exon2:c.164+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon2:c.164+2T>G;ENST00000589596:exon2:c.164+2T>G;ENST00000507064:exon2:c.164+2T>G)	.	.	0.999989917668626	0.926
18	12999590	A	C	18	12999591	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.949392564962362	0.712
18	12999590	A	G	18	12999591	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00373321914533038	0.212
18	12999590	A	T	18	12999591	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.935981463632206	0.724
18	12999591	A	C	18	12999592	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.257838421494972	0.282
18	12999591	A	G	18	12999592	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.226061157103044	0.306
18	12999591	A	T	18	12999592	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.269983923164738	0.254
18	12999592	G	A	18	12999593	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.981566326861508	0.572
18	12999592	G	C	18	12999593	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.892485659172873	0.596
18	12999592	G	T	18	12999593	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.828173874177536	0.526
18	12999593	A	C	18	12999594	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0176963297316669	0.156
18	12999593	A	G	18	12999594	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00349632522555493	0.024
18	12999593	A	T	18	12999594	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00169857101231452	0.022
18	12999594	T	A	18	12999595	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.85291117265603E-5	0.0
18	12999594	T	C	18	12999595	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.08606701665015E-4	0.0
18	12999594	T	G	18	12999595	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.08606701665015E-4	0.0
18	12999595	T	A	18	12999596	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.06127121987761E-4	0.002
18	12999595	T	C	18	12999596	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.06127121987761E-4	0.0
18	12999595	T	G	18	12999596	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.73314997541658E-4	0.0
18	13000299	T	A	18	13000300	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.89925739660516E-5	0.09
18	13000299	T	C	18	13000300	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.89925739660516E-5	0.004
18	13000299	T	G	18	13000300	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.89925739660516E-5	0.004
18	13000300	T	A	18	13000301	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.67864951622834E-4	0.0
18	13000300	T	C	18	13000301	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.67864951622834E-4	0.0
18	13000300	T	G	18	13000301	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.67864951622834E-4	0.0
18	13000301	C	A	18	13000302	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.07620641825897E-5	0.002
18	13000301	C	G	18	13000302	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.07620641825897E-5	0.002
18	13000301	C	T	18	13000302	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.31929338280547E-5	0.002
18	13000302	A	C	18	13000303	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.4243997895107E-5	0.01
18	13000302	A	G	18	13000303	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.4243997895107E-5	0.01
18	13000302	A	T	18	13000303	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.8042999492716E-5	0.0
18	13000303	T	A	18	13000304	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.55663598370402E-5	0.002
18	13000303	T	C	18	13000304	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.36940056884885E-5	0.002
18	13000303	T	G	18	13000304	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.36940056884885E-5	0.002
18	13000304	T	A	18	13000305	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.07620641825897E-5	0.002
18	13000304	T	C	18	13000305	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.002
18	13000304	T	G	18	13000305	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.002
18	13000305	T	A	18	13000306	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.0305314401792E-5	0.006
18	13000305	T	C	18	13000306	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68284073685752E-5	0.002
18	13000305	T	G	18	13000306	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68284073685752E-5	0.002
18	13000306	T	A	18	13000307	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.81456590373184E-4	0.176
18	13000306	T	C	18	13000307	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.81456590373184E-4	0.048
18	13000306	T	G	18	13000307	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.81456590373184E-4	0.048
18	13000307	A	C	18	13000308	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.46004206284423E-5	0.0
18	13000307	A	G	18	13000308	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.46004206284423E-5	0.0
18	13000307	A	T	18	13000308	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.46004206284423E-5	0.0
18	13000308	C	A	18	13000309	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13000308	C	G	18	13000309	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13000308	C	T	18	13000309	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13000309	A	C	18	13000310	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.165-2A>C)	.	.	8.24824353344448E-5	0.0
18	13000309	A	G	18	13000310	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.165-2A>G)	.	.	8.24824353344448E-5	0.0
18	13000309	A	T	18	13000310	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.165-2A>T)	.	.	8.24824353344448E-5	0.0
18	13000310	G	A	18	13000311	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.165-1G>A)	.	.	2.45277156108894E-5	0.0
18	13000310	G	C	18	13000311	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.165-1G>C)	.	.	2.45277156108894E-5	0.0
18	13000310	G	T	18	13000311	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.165-1G>T)	.	.	2.45277156108894E-5	0.0
18	13000311	A	C	18	13000312	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000507064:exon3:c.A165C:p.R55S;	6.87125311119806E-5	0.022
18	13000311	A	G	18	13000312	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000507064:exon3:c.A165G:p.R55R;	6.87125311119806E-5	0.016
18	13000311	A	T	18	13000312	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000507064:exon3:c.A165T:p.R55S;	5.13847195961614E-5	0.0
18	13000312	A	C	18	13000313	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000507064:exon3:c.A166C:p.I56L;	3.52173701430229E-5	0.006
18	13000312	A	G	18	13000313	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000507064:exon3:c.A166G:p.I56V;	3.52173701430229E-5	0.006
18	13000312	A	T	18	13000313	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000507064:exon3:c.A166T:p.I56L;	3.52173701430229E-5	0.026
18	13000483	G	A	18	13000484	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.60815764102212E-5	0.002
18	13000483	G	C	18	13000484	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.60815764102212E-5	0.002
18	13000483	G	T	18	13000484	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.60815764102212E-5	0.002
18	13000484	A	C	18	13000485	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.58927937202005E-5	0.004
18	13000484	A	G	18	13000485	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.58927937202005E-5	0.004
18	13000484	A	T	18	13000485	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.58927937202005E-5	0.004
18	13000485	G	A	18	13000486	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.07620641825897E-5	0.0
18	13000485	G	C	18	13000486	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13000485	G	T	18	13000486	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13000486	G	A	18	13000487	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.339+1G>A)	.	.	3.07620641825897E-5	0.0
18	13000486	G	C	18	13000487	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.339+1G>C)	.	.	1.99153316237132E-5	0.0
18	13000486	G	T	18	13000487	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.339+1G>T)	.	.	1.99153316237132E-5	0.0
18	13000487	T	A	18	13000488	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.339+2T>A)	.	.	6.54291542054858E-4	0.008
18	13000487	T	C	18	13000488	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.339+2T>C)	.	.	6.54291542054858E-4	0.01
18	13000487	T	G	18	13000488	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000507064:exon3:c.339+2T>G)	.	.	6.54291542054858E-4	0.01
18	13000488	A	C	18	13000489	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42005417025298E-5	0.002
18	13000488	A	G	18	13000489	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42005417025298E-5	0.002
18	13000488	A	T	18	13000489	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42005417025298E-5	0.002
18	13000489	T	A	18	13000490	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.37501361942679E-5	0.004
18	13000489	T	C	18	13000490	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.90177193295887E-6	0.004
18	13000489	T	G	18	13000490	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.37501361942679E-5	0.004
18	13000490	G	A	18	13000491	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.0288925866825E-5	0.0
18	13000490	G	C	18	13000491	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.0288925866825E-5	0.0
18	13000490	G	T	18	13000491	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.0288925866825E-5	0.0
18	13000491	A	C	18	13000492	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.0288925866825E-5	0.006
18	13000491	A	G	18	13000492	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.0288925866825E-5	0.006
18	13000491	A	T	18	13000492	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.58927937202005E-5	0.004
18	13000492	C	A	18	13000493	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.73686617846189E-5	0.0
18	13000492	C	G	18	13000493	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.73686617846189E-5	0.004
18	13000492	C	T	18	13000493	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68284073685752E-5	0.0
18	13000493	A	C	18	13000494	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.78667633506325E-5	0.004
18	13000493	A	G	18	13000494	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.78667633506325E-5	0.004
18	13000493	A	T	18	13000494	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.78667633506325E-5	0.004
18	13001444	T	A	18	13001445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.04064892862108E-4	0.062
18	13001444	T	C	18	13001445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.235697871347E-4	0.004
18	13001444	T	G	18	13001445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.01394025269878E-4	0.048
18	13001445	T	A	18	13001446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.73289430517075E-4	0.108
18	13001445	T	C	18	13001446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.27458646915768E-4	0.0
18	13001445	T	G	18	13001446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.73312495302603E-4	0.03
18	13001446	T	A	18	13001447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.76139014480307E-4	0.04
18	13001446	T	C	18	13001447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.15638778471128E-5	0.0
18	13001446	T	G	18	13001447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.3563371443073E-5	0.078
18	13001447	T	A	18	13001448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.39949050664323E-4	0.11
18	13001447	T	C	18	13001448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.27681269142214E-5	0.002
18	13001447	T	G	18	13001448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.06321590145774E-4	0.122
18	13001448	T	A	18	13001449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.87645579250963E-4	0.002
18	13001448	T	C	18	13001449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.12018574463678E-5	0.002
18	13001448	T	G	18	13001449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.32937694097788E-4	0.024
18	13001449	T	A	18	13001450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998918738648683	0.994
18	13001449	T	C	18	13001450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.59089139472421E-4	0.022
18	13001449	T	G	18	13001450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.14713816124279E-4	0.036
18	13001450	G	A	18	13001451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.15358342454107E-5	0.006
18	13001450	G	C	18	13001451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.24404109889429E-5	0.01
18	13001450	G	T	18	13001451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.85844182949966E-5	0.014
18	13001451	T	A	18	13001452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.99389641694622E-4	0.204
18	13001451	T	C	18	13001452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.84840914068862E-4	0.046
18	13001451	T	G	18	13001452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.83240172456452E-4	0.21
18	13001452	A	C	18	13001453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.02563006296783E-5	0.004
18	13001452	A	G	18	13001453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.77457243820827E-5	0.0
18	13001452	A	T	18	13001453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.36261814584457E-5	0.0
18	13001453	T	A	18	13001454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00569984498074038	0.162
18	13001453	T	C	18	13001454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.04798991965787E-4	0.058
18	13001453	T	G	18	13001454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998604527327477	0.676
18	13001454	A	C	18	13001455	y	y	splicing	CEP192(NM_032142:exon3:c.165-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.165-2A>C;ENST00000589596:exon3:c.165-2A>C;ENST00000507064:exon4:c.340-2A>C)	.	.	0.999980516178445	0.804
18	13001454	A	G	18	13001455	y	y	splicing	CEP192(NM_032142:exon3:c.165-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.165-2A>G;ENST00000589596:exon3:c.165-2A>G;ENST00000507064:exon4:c.340-2A>G)	.	.	0.999980516178445	0.804
18	13001454	A	T	18	13001455	y	y	splicing	CEP192(NM_032142:exon3:c.165-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.165-2A>T;ENST00000589596:exon3:c.165-2A>T;ENST00000507064:exon4:c.340-2A>T)	.	.	0.999980516178445	0.842
18	13001455	G	A	18	13001456	y	y	splicing	CEP192(NM_032142:exon3:c.165-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.165-1G>A;ENST00000589596:exon3:c.165-1G>A;ENST00000507064:exon4:c.340-1G>A)	.	.	0.999980516178445	0.84
18	13001455	G	C	18	13001456	y	y	splicing	CEP192(NM_032142:exon3:c.165-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.165-1G>C;ENST00000589596:exon3:c.165-1G>C;ENST00000507064:exon4:c.340-1G>C)	.	.	0.999980516178445	0.802
18	13001455	G	T	18	13001456	y	y	splicing	CEP192(NM_032142:exon3:c.165-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.165-1G>T;ENST00000589596:exon3:c.165-1G>T;ENST00000507064:exon4:c.340-1G>T)	.	.	0.999980516178445	0.808
18	13001456	G	A	18	13001457	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon3:c.G165A:p.R55R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.G165A:p.R55R;ENSG00000101639:ENST00000589596:exon3:c.G165A:p.R55R;	0.0402006686413252	0.412
18	13001456	G	C	18	13001457	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.G165C:p.R55S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.G165C:p.R55S;ENSG00000101639:ENST00000589596:exon3:c.G165C:p.R55S;	0.939149775360595	0.726
18	13001456	G	T	18	13001457	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.G165T:p.R55S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.G165T:p.R55S;ENSG00000101639:ENST00000589596:exon3:c.G165T:p.R55S;	0.981473409027693	0.81
18	13001457	T	A	18	13001458	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.T166A:p.Y56N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.T166A:p.Y56N;ENSG00000101639:ENST00000589596:exon3:c.T166A:p.Y56N;	9.5600717432306E-5	0.0
18	13001457	T	C	18	13001458	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.T166C:p.Y56H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.T166C:p.Y56H;ENSG00000101639:ENST00000589596:exon3:c.T166C:p.Y56H;	2.67377676717033E-4	0.004
18	13001457	T	G	18	13001458	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.T166G:p.Y56D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.T166G:p.Y56D;ENSG00000101639:ENST00000589596:exon3:c.T166G:p.Y56D;	1.21904343229202E-4	0.0
18	13001579	T	A	18	13001580	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.T288A:p.D96E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.T288A:p.D96E;ENSG00000101639:ENST00000589596:exon3:c.T288A:p.D96E;	1.91683211707006E-5	0.0
18	13001579	T	C	18	13001580	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon3:c.T288C:p.D96D;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.T288C:p.D96D;ENSG00000101639:ENST00000589596:exon3:c.T288C:p.D96D;	1.65047354028333E-5	0.0
18	13001579	T	G	18	13001580	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.T288G:p.D96E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.T288G:p.D96E;ENSG00000101639:ENST00000589596:exon3:c.T288G:p.D96E;	1.67472981765542E-5	0.004
18	13001580	G	A	18	13001581	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.G289A:p.D97N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.G289A:p.D97N;ENSG00000101639:ENST00000589596:exon3:c.G289A:p.D97N;	7.62822154928983E-4	0.052
18	13001580	G	C	18	13001581	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.G289C:p.D97H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.G289C:p.D97H;ENSG00000101639:ENST00000589596:exon3:c.G289C:p.D97H;	4.71487841425264E-4	0.006
18	13001580	G	T	18	13001581	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.G289T:p.D97Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.G289T:p.D97Y;ENSG00000101639:ENST00000589596:exon3:c.G289T:p.D97Y;	0.00138618963107736	0.05
18	13001581	A	C	18	13001582	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.A290C:p.D97A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.A290C:p.D97A;ENSG00000101639:ENST00000589596:exon3:c.A290C:p.D97A;	0.00651831935808394	0.2
18	13001581	A	G	18	13001582	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.A290G:p.D97G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.A290G:p.D97G;ENSG00000101639:ENST00000589596:exon3:c.A290G:p.D97G;	0.0013665188993491	0.062
18	13001581	A	T	18	13001582	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon3:c.A290T:p.D97V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon3:c.A290T:p.D97V;ENSG00000101639:ENST00000589596:exon3:c.A290T:p.D97V;	0.0101099880141789	0.258
18	13001582	G	A	18	13001583	y	y	splicing	CEP192(NM_032142:exon3:c.290+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.290+1G>A;ENST00000589596:exon3:c.290+1G>A;ENST00000507064:exon4:c.465+1G>A)	.	.	0.999985730311967	0.866
18	13001582	G	C	18	13001583	y	y	splicing	CEP192(NM_032142:exon3:c.290+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.290+1G>C;ENST00000589596:exon3:c.290+1G>C;ENST00000507064:exon4:c.465+1G>C)	.	.	0.99998382861657	0.856
18	13001582	G	T	18	13001583	y	y	splicing	CEP192(NM_032142:exon3:c.290+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.290+1G>T;ENST00000589596:exon3:c.290+1G>T;ENST00000507064:exon4:c.465+1G>T)	.	.	0.999985353572514	0.872
18	13001583	T	A	18	13001584	y	y	splicing	CEP192(NM_032142:exon3:c.290+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.290+2T>A;ENST00000589596:exon3:c.290+2T>A;ENST00000507064:exon4:c.465+2T>A)	.	.	0.999985730311967	0.886
18	13001583	T	C	18	13001584	y	y	splicing	CEP192(NM_032142:exon3:c.290+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.290+2T>C;ENST00000589596:exon3:c.290+2T>C;ENST00000507064:exon4:c.465+2T>C)	.	.	0.998505267257036	0.72
18	13001583	T	G	18	13001584	y	y	splicing	CEP192(NM_032142:exon3:c.290+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon3:c.290+2T>G;ENST00000589596:exon3:c.290+2T>G;ENST00000507064:exon4:c.465+2T>G)	.	.	0.999985353572514	0.87
18	13001584	A	C	18	13001585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999906545775783	0.888
18	13001584	A	G	18	13001585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0145117931004115	0.198
18	13001584	A	T	18	13001585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999906545775783	0.886
18	13001585	A	C	18	13001586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997761644508032	0.68
18	13001585	A	G	18	13001586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994375935714967	0.864
18	13001585	A	T	18	13001586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997236353556526	0.786
18	13001586	G	A	18	13001587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999989473620829	0.996
18	13001586	G	C	18	13001587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999995559733243	0.988
18	13001586	G	T	18	13001587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999993810647711	0.996
18	13001587	T	A	18	13001588	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.965448098906696	0.694
18	13001587	T	C	18	13001588	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.98457957442404	0.738
18	13001587	T	G	18	13001588	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.969221685523959	0.744
18	13001588	T	A	18	13001589	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.23571984125489E-5	0.0
18	13001588	T	C	18	13001589	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.88109653152097E-5	0.0
18	13001588	T	G	18	13001589	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.97133583746614E-5	0.0
18	13001589	C	A	18	13001590	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.70868139151975E-5	0.002
18	13001589	C	G	18	13001590	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.70868139151975E-5	0.002
18	13001589	C	T	18	13001590	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.20525634384127E-5	0.002
18	13008443	C	A	18	13008444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00291980858812348	0.186
18	13008443	C	G	18	13008444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00631007763896561	0.224
18	13008443	C	T	18	13008444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.10083749000126E-5	0.02
18	13008444	T	A	18	13008445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.304261818356491	0.614
18	13008444	T	C	18	13008445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.5406088276004E-4	0.188
18	13008444	T	G	18	13008445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.842156292425373	0.674
18	13008445	A	C	18	13008446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.0042849427752E-5	0.064
18	13008445	A	G	18	13008446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00203920191971106	0.164
18	13008445	A	T	18	13008446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.6504971057503E-5	0.146
18	13008446	A	C	18	13008447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.05230042976552E-4	0.072
18	13008446	A	G	18	13008447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99943521189258	0.94
18	13008446	A	T	18	13008447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00201514909700848	0.126
18	13008447	T	A	18	13008448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.735897667441669	0.588
18	13008447	T	C	18	13008448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.42462499314466E-5	0.05
18	13008447	T	G	18	13008448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999237061866245	0.99
18	13008448	A	C	18	13008449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.40838932451953E-5	0.026
18	13008448	A	G	18	13008449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.78864525412067E-5	0.016
18	13008448	A	T	18	13008449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.40838932451953E-5	0.042
18	13008449	A	C	18	13008450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.62325461629831E-5	0.094
18	13008449	A	G	18	13008450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.924720549739711	0.92
18	13008449	A	T	18	13008450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.50785387685916E-5	0.03
18	13008450	A	C	18	13008451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.73589311706835E-5	0.04
18	13008450	A	G	18	13008451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998904797873323	0.986
18	13008450	A	T	18	13008451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.12093480496326E-4	0.142
18	13008451	A	C	18	13008452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00416525143676525	0.104
18	13008451	A	G	18	13008452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999337395018117	0.968
18	13008451	A	T	18	13008452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00147659712645943	0.062
18	13008452	A	C	18	13008453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.22055523350824E-5	0.132
18	13008452	A	G	18	13008453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0223181765022138	0.264
18	13008452	A	T	18	13008453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.01290068176803E-4	0.06
18	13008453	A	C	18	13008454	y	y	splicing	CEP192(NM_032142:exon4:c.291-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.291-2A>C;ENST00000589596:exon4:c.291-2A>C;ENST00000507064:exon5:c.466-2A>C)	.	.	0.999568903461241	0.726
18	13008453	A	G	18	13008454	y	y	splicing	CEP192(NM_032142:exon4:c.291-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.291-2A>G;ENST00000589596:exon4:c.291-2A>G;ENST00000507064:exon5:c.466-2A>G)	.	.	0.999568903461241	0.728
18	13008453	A	T	18	13008454	y	y	splicing	CEP192(NM_032142:exon4:c.291-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.291-2A>T;ENST00000589596:exon4:c.291-2A>T;ENST00000507064:exon5:c.466-2A>T)	.	.	0.999568903461241	0.756
18	13008454	G	A	18	13008455	y	y	splicing	CEP192(NM_032142:exon4:c.291-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.291-1G>A;ENST00000589596:exon4:c.291-1G>A;ENST00000507064:exon5:c.466-1G>A)	.	.	0.993196694098733	0.612
18	13008454	G	C	18	13008455	y	y	splicing	CEP192(NM_032142:exon4:c.291-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.291-1G>C;ENST00000589596:exon4:c.291-1G>C;ENST00000507064:exon5:c.466-1G>C)	.	.	0.993196694098733	0.612
18	13008454	G	T	18	13008455	y	y	splicing	CEP192(NM_032142:exon4:c.291-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.291-1G>T;ENST00000589596:exon4:c.291-1G>T;ENST00000507064:exon5:c.466-1G>T)	.	.	0.993196694098733	0.612
18	13008455	T	A	18	13008456	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.T291A:p.D97E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.T291A:p.D97E;ENSG00000101639:ENST00000589596:exon4:c.T291A:p.D97E;	0.00366349396944366	0.218
18	13008455	T	C	18	13008456	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon4:c.T291C:p.D97D;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.T291C:p.D97D;ENSG00000101639:ENST00000589596:exon4:c.T291C:p.D97D;	7.26356741320342E-4	0.13
18	13008455	T	G	18	13008456	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.T291G:p.D97E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.T291G:p.D97E;ENSG00000101639:ENST00000589596:exon4:c.T291G:p.D97E;	0.00433674565379665	0.278
18	13008456	T	A	18	13008457	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.T292A:p.S98T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.T292A:p.S98T;ENSG00000101639:ENST00000589596:exon4:c.T292A:p.S98T;	0.186571340865617	0.342
18	13008456	T	C	18	13008457	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.T292C:p.S98P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.T292C:p.S98P;ENSG00000101639:ENST00000589596:exon4:c.T292C:p.S98P;	0.318512184618123	0.368
18	13008456	T	G	18	13008457	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.T292G:p.S98A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.T292G:p.S98A;ENSG00000101639:ENST00000589596:exon4:c.T292G:p.S98A;	0.0390671753144149	0.138
18	13008628	A	C	18	13008629	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.A464C:p.Q155P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.A464C:p.Q155P;ENSG00000101639:ENST00000589596:exon4:c.A464C:p.Q155P;	1.69782893777871E-4	0.002
18	13008628	A	G	18	13008629	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.A464G:p.Q155R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.A464G:p.Q155R;ENSG00000101639:ENST00000589596:exon4:c.A464G:p.Q155R;	0.00584932840114303	0.08
18	13008628	A	T	18	13008629	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.A464T:p.Q155L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.A464T:p.Q155L;ENSG00000101639:ENST00000589596:exon4:c.A464T:p.Q155L;	0.100575124965999	0.348
18	13008629	A	C	18	13008630	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.A465C:p.Q155H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.A465C:p.Q155H;ENSG00000101639:ENST00000589596:exon4:c.A465C:p.Q155H;	0.987778843147895	0.874
18	13008629	A	G	18	13008630	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon4:c.A465G:p.Q155Q;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.A465G:p.Q155Q;ENSG00000101639:ENST00000589596:exon4:c.A465G:p.Q155Q;	0.985766343102354	0.89
18	13008629	A	T	18	13008630	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.A465T:p.Q155H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.A465T:p.Q155H;ENSG00000101639:ENST00000589596:exon4:c.A465T:p.Q155H;	0.996380141777911	0.844
18	13008630	G	A	18	13008631	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.G466A:p.D156N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.G466A:p.D156N;ENSG00000101639:ENST00000589596:exon4:c.G466A:p.D156N;	0.999993270480631	0.998
18	13008630	G	C	18	13008631	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.G466C:p.D156H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.G466C:p.D156H;ENSG00000101639:ENST00000589596:exon4:c.G466C:p.D156H;	0.999988864712782	1.0
18	13008630	G	T	18	13008631	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon4:c.G466T:p.D156Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon4:c.G466T:p.D156Y;ENSG00000101639:ENST00000589596:exon4:c.G466T:p.D156Y;	0.999975523187559	1.0
18	13008631	G	A	18	13008632	y	y	splicing	CEP192(NM_032142:exon4:c.466+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.466+1G>A;ENST00000589596:exon4:c.466+1G>A;ENST00000513432:exon1:c.132+1G>A)	.	.	0.99995261935813	0.83
18	13008631	G	C	18	13008632	y	y	splicing	CEP192(NM_032142:exon4:c.466+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.466+1G>C;ENST00000589596:exon4:c.466+1G>C;ENST00000513432:exon1:c.132+1G>C)	.	.	0.99995261935813	0.828
18	13008631	G	T	18	13008632	y	y	splicing	CEP192(NM_032142:exon4:c.466+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.466+1G>T;ENST00000589596:exon4:c.466+1G>T;ENST00000513432:exon1:c.132+1G>T)	.	.	0.99995261935813	0.834
18	13008632	T	A	18	13008633	y	y	splicing	CEP192(NM_032142:exon4:c.466+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.466+2T>A;ENST00000589596:exon4:c.466+2T>A;ENST00000513432:exon1:c.132+2T>A)	.	.	0.99995820954749	0.858
18	13008632	T	C	18	13008633	y	y	splicing	CEP192(NM_032142:exon4:c.466+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.466+2T>C;ENST00000589596:exon4:c.466+2T>C;ENST00000513432:exon1:c.132+2T>C)	.	.	0.876095167378405	0.53
18	13008632	T	G	18	13008633	y	y	splicing	CEP192(NM_032142:exon4:c.466+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon4:c.466+2T>G;ENST00000589596:exon4:c.466+2T>G;ENST00000513432:exon1:c.132+2T>G)	.	.	0.99995820954749	0.818
18	13008633	A	C	18	13008634	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999526226674612	0.754
18	13008633	A	G	18	13008634	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.862545645847122	0.646
18	13008633	A	T	18	13008634	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998238908136983	0.742
18	13008634	C	A	18	13008635	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.77399208261887E-4	0.09
18	13008634	C	G	18	13008635	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00559671419812865	0.064
18	13008634	C	T	18	13008635	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.61649361415241E-4	0.03
18	13008635	T	A	18	13008636	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.67553503364876E-4	0.02
18	13008635	T	C	18	13008636	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.65300508666829E-4	0.016
18	13008635	T	G	18	13008636	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.45842481688431E-4	0.052
18	13008636	G	A	18	13008637	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.79688953577597E-4	0.036
18	13008636	G	C	18	13008637	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.62809372049181E-4	0.076
18	13008636	G	T	18	13008637	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.50106619841518E-5	0.062
18	13008637	A	C	18	13008638	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.57944748426953E-4	0.004
18	13008637	A	G	18	13008638	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42711818054006E-4	0.002
18	13008637	A	T	18	13008638	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.33631517977174E-4	0.022
18	13008638	A	C	18	13008639	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.43235024857693E-5	0.026
18	13008638	A	G	18	13008639	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.43235024857693E-5	0.002
18	13008638	A	T	18	13008639	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95595744311896E-4	0.0
18	13012960	T	A	18	13012961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00773712851409596	0.136
18	13012960	T	C	18	13012961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.00926162088831E-4	0.0
18	13012960	T	G	18	13012961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00885766305210604	0.152
18	13012961	T	A	18	13012962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.409036123747604	0.44
18	13012961	T	C	18	13012962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00585109974154967	0.148
18	13012961	T	G	18	13012962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0398447829453901	0.448
18	13012962	T	A	18	13012963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0357410708672277	0.242
18	13012962	T	C	18	13012963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.07574641470882E-4	0.012
18	13012962	T	G	18	13012963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0413266414573335	0.214
18	13012963	C	A	18	13012964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00105950244015704	0.042
18	13012963	C	G	18	13012964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00226293597381892	0.12
18	13012963	C	T	18	13012964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.16779089700447E-4	0.002
18	13012964	T	A	18	13012965	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0107511028433348	0.264
18	13012964	T	C	18	13012965	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.35655563666757E-5	0.0
18	13012964	T	G	18	13012965	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.19587013166515E-4	0.218
18	13012965	T	A	18	13012966	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.161408084026037	0.334
18	13012965	T	C	18	13012966	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.76712576568185E-5	0.014
18	13012965	T	G	18	13012966	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0461473944148604	0.25
18	13012966	A	C	18	13012967	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.41187376095366E-5	0.024
18	13012966	A	G	18	13012967	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.66792360169137E-6	0.0
18	13012966	A	T	18	13012967	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.82691309108462E-5	0.008
18	13012967	C	A	18	13012968	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.9099845197618E-4	0.046
18	13012967	C	G	18	13012968	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.978642863525527	0.904
18	13012967	C	T	18	13012968	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.32405716386838E-6	0.0
18	13012968	A	C	18	13012969	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.54409273016823E-5	0.008
18	13012968	A	G	18	13012969	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.60923492518345E-5	0.01
18	13012968	A	T	18	13012969	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.0937719063738E-4	0.014
18	13012969	C	A	18	13012970	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.925238162056228	0.578
18	13012969	C	G	18	13012970	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998694944904037	0.886
18	13012969	C	T	18	13012970	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.91067231811748E-4	0.058
18	13012970	A	C	18	13012971	y	y	splicing	CEP192(NM_032142:exon5:c.467-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.467-2A>C;ENST00000589596:exon5:c.467-2A>C;ENST00000513432:exon2:c.133-2A>C)	.	.	0.999980255680118	0.788
18	13012970	A	G	18	13012971	y	y	splicing	CEP192(NM_032142:exon5:c.467-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.467-2A>G;ENST00000589596:exon5:c.467-2A>G;ENST00000513432:exon2:c.133-2A>G)	.	.	0.999980255680118	0.788
18	13012970	A	T	18	13012971	y	y	splicing	CEP192(NM_032142:exon5:c.467-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.467-2A>T;ENST00000589596:exon5:c.467-2A>T;ENST00000513432:exon2:c.133-2A>T)	.	.	0.999962958601995	0.8
18	13012971	G	A	18	13012972	y	y	splicing	CEP192(NM_032142:exon5:c.467-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.467-1G>A;ENST00000589596:exon5:c.467-1G>A;ENST00000513432:exon2:c.133-1G>A)	.	.	0.999903647012865	0.778
18	13012971	G	C	18	13012972	y	y	splicing	CEP192(NM_032142:exon5:c.467-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.467-1G>C;ENST00000589596:exon5:c.467-1G>C;ENST00000513432:exon2:c.133-1G>C)	.	.	0.999912126981317	0.778
18	13012971	G	T	18	13012972	y	y	splicing	CEP192(NM_032142:exon5:c.467-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.467-1G>T;ENST00000589596:exon5:c.467-1G>T;ENST00000513432:exon2:c.133-1G>T)	.	.	0.999903647012865	0.778
18	13012972	A	C	18	13012973	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.A467C:p.D156A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.A467C:p.D156A;ENSG00000101639:ENST00000589596:exon5:c.A467C:p.D156A;	8.82328347950662E-4	0.042
18	13012972	A	G	18	13012973	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.A467G:p.D156G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.A467G:p.D156G;ENSG00000101639:ENST00000589596:exon5:c.A467G:p.D156G;	2.3090826710747E-5	0.006
18	13012972	A	T	18	13012973	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.A467T:p.D156V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.A467T:p.D156V;ENSG00000101639:ENST00000589596:exon5:c.A467T:p.D156V;	0.00137506451267575	0.03
18	13012973	C	A	18	13012974	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.C468A:p.D156E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.C468A:p.D156E;ENSG00000101639:ENST00000589596:exon5:c.C468A:p.D156E;	9.04073630676132E-5	0.01
18	13012973	C	G	18	13012974	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.C468G:p.D156E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.C468G:p.D156E;ENSG00000101639:ENST00000589596:exon5:c.C468G:p.D156E;	2.20134158982039E-4	0.014
18	13012973	C	T	18	13012974	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon5:c.C468T:p.D156D;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.C468T:p.D156D;ENSG00000101639:ENST00000589596:exon5:c.C468T:p.D156D;	2.4873780526813E-5	0.0
18	13013022	A	C	18	13013023	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.A517C:p.K173Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.A517C:p.K173Q;ENSG00000101639:ENST00000589596:exon5:c.A517C:p.K173Q;	3.82852342669396E-5	0.0
18	13013022	A	G	18	13013023	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.A517G:p.K173E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.A517G:p.K173E;ENSG00000101639:ENST00000589596:exon5:c.A517G:p.K173E;	1.34711419949768E-4	0.058
18	13013022	A	T	18	13013023	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon5:c.A517T:p.K173X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000506447:exon5:c.A517T:p.K173X;ENSG00000101639:ENST00000589596:exon5:c.A517T:p.K173X;	0.157501288479784	0.448
18	13013023	A	C	18	13013024	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.A518C:p.K173T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.A518C:p.K173T;ENSG00000101639:ENST00000589596:exon5:c.A518C:p.K173T;	0.879040401896799	0.648
18	13013023	A	G	18	13013024	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.A518G:p.K173R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.A518G:p.K173R;ENSG00000101639:ENST00000589596:exon5:c.A518G:p.K173R;	0.996328574860428	0.744
18	13013023	A	T	18	13013024	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.A518T:p.K173M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.A518T:p.K173M;ENSG00000101639:ENST00000589596:exon5:c.A518T:p.K173M;	0.993542017959648	0.736
18	13013024	G	A	18	13013025	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon5:c.G519A:p.K173K;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.G519A:p.K173K;ENSG00000101639:ENST00000589596:exon5:c.G519A:p.K173K;	0.999609186554241	0.946
18	13013024	G	C	18	13013025	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.G519C:p.K173N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.G519C:p.K173N;ENSG00000101639:ENST00000589596:exon5:c.G519C:p.K173N;	0.999951335565701	0.794
18	13013024	G	T	18	13013025	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon5:c.G519T:p.K173N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon5:c.G519T:p.K173N;ENSG00000101639:ENST00000589596:exon5:c.G519T:p.K173N;	0.998600959834402	0.824
18	13013025	G	A	18	13013026	y	y	splicing	CEP192(NM_032142:exon5:c.519+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.519+1G>A;ENST00000589596:exon5:c.519+1G>A;ENST00000513432:exon2:c.185+1G>A)	.	.	0.999975788563665	0.768
18	13013025	G	C	18	13013026	y	y	splicing	CEP192(NM_032142:exon5:c.519+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.519+1G>C;ENST00000589596:exon5:c.519+1G>C;ENST00000513432:exon2:c.185+1G>C)	.	.	0.999983516200275	0.77
18	13013025	G	T	18	13013026	y	y	splicing	CEP192(NM_032142:exon5:c.519+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.519+1G>T;ENST00000589596:exon5:c.519+1G>T;ENST00000513432:exon2:c.185+1G>T)	.	.	0.999983516200275	0.768
18	13013026	T	A	18	13013027	y	y	splicing	CEP192(NM_032142:exon5:c.519+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.519+2T>A;ENST00000589596:exon5:c.519+2T>A;ENST00000513432:exon2:c.185+2T>A)	.	.	0.999980255680118	0.746
18	13013026	T	C	18	13013027	y	y	splicing	CEP192(NM_032142:exon5:c.519+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.519+2T>C;ENST00000589596:exon5:c.519+2T>C;ENST00000513432:exon2:c.185+2T>C)	.	.	0.900683492313976	0.478
18	13013026	T	G	18	13013027	y	y	splicing	CEP192(NM_032142:exon5:c.519+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon5:c.519+2T>G;ENST00000589596:exon5:c.519+2T>G;ENST00000513432:exon2:c.185+2T>G)	.	.	0.999989378869813	0.75
18	13013027	A	C	18	13013028	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999733020229389	0.852
18	13013027	A	G	18	13013028	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.904497833397028	0.562
18	13013027	A	T	18	13013028	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999632839399122	0.856
18	13013028	A	C	18	13013029	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0718270967016507	0.432
18	13013028	A	G	18	13013029	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.481259544621325	0.408
18	13013028	A	T	18	13013029	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.382831132222291	0.412
18	13013029	C	A	18	13013030	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.01935335338077E-5	0.018
18	13013029	C	G	18	13013030	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.63171450387537E-5	0.014
18	13013029	C	T	18	13013030	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.19629004554478E-5	0.094
18	13013030	C	A	18	13013031	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.18721921729896E-5	0.01
18	13013030	C	G	18	13013031	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.92793456484729E-5	0.014
18	13013030	C	T	18	13013031	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.55908716824608E-5	0.0
18	13013031	T	A	18	13013032	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.40447878472689E-5	0.0
18	13013031	T	C	18	13013032	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.40447878472689E-5	0.0
18	13013031	T	G	18	13013032	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.76639691864028E-5	0.0
18	13013032	T	A	18	13013033	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.13805259716658E-5	0.0
18	13013032	T	C	18	13013033	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.60358231126239E-4	0.006
18	13013032	T	G	18	13013033	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00148325361434741	0.008
18	13015315	T	A	18	13015316	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999496474726311	0.95
18	13015315	T	C	18	13015316	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.96504305571973E-4	0.068
18	13015315	T	G	18	13015316	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.80069275765996E-4	0.138
18	13015316	G	A	18	13015317	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.49030085324951E-5	0.016
18	13015316	G	C	18	13015317	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.25221127041602E-5	0.0
18	13015316	G	T	18	13015317	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.26452826882647E-5	0.0
18	13015317	T	A	18	13015318	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00229128937104004	0.188
18	13015317	T	C	18	13015318	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.54350132259213E-4	0.002
18	13015317	T	G	18	13015318	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00107250533743428	0.19
18	13015318	T	A	18	13015319	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.54071018006545E-4	0.096
18	13015318	T	C	18	13015319	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.52162971492662E-5	0.016
18	13015318	T	G	18	13015319	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.8527023539194E-4	0.156
18	13015319	T	A	18	13015320	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00208975645763376	0.176
18	13015319	T	C	18	13015320	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.92365598180621E-4	0.048
18	13015319	T	G	18	13015320	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00232782441093999	0.192
18	13015320	C	A	18	13015321	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00122823858275632	0.028
18	13015320	C	G	18	13015321	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.89219159099337E-4	0.04
18	13015320	C	T	18	13015321	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.37193087988548E-4	0.002
18	13015321	T	A	18	13015322	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0067066538766953	0.208
18	13015321	T	C	18	13015322	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.28502562466703E-4	0.022
18	13015321	T	G	18	13015322	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0038023245803237	0.208
18	13015322	T	A	18	13015323	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.08948018562147E-4	0.066
18	13015322	T	C	18	13015323	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.2256904737291E-5	0.004
18	13015322	T	G	18	13015323	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00171687637071305	0.072
18	13015323	A	C	18	13015324	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.77165043421841E-5	0.0
18	13015323	A	G	18	13015324	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.14767442097854E-5	0.0
18	13015323	A	T	18	13015324	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.00273267466002E-4	0.0
18	13015324	T	A	18	13015325	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.20132181284124E-4	0.104
18	13015324	T	C	18	13015325	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.31873189713325E-5	0.004
18	13015324	T	G	18	13015325	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.493450229406077	0.634
18	13015325	A	C	18	13015326	y	y	splicing	CEP192(NM_032142:exon6:c.520-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.520-2A>C;ENST00000589596:exon6:c.520-2A>C;ENST00000513432:exon3:c.186-2A>C)	.	.	0.999971317418422	0.89
18	13015325	A	G	18	13015326	y	y	splicing	CEP192(NM_032142:exon6:c.520-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.520-2A>G;ENST00000589596:exon6:c.520-2A>G;ENST00000513432:exon3:c.186-2A>G)	.	.	0.999971317418422	0.89
18	13015325	A	T	18	13015326	y	y	splicing	CEP192(NM_032142:exon6:c.520-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.520-2A>T;ENST00000589596:exon6:c.520-2A>T;ENST00000513432:exon3:c.186-2A>T)	.	.	0.999963671976247	0.916
18	13015326	G	A	18	13015327	y	y	splicing	CEP192(NM_032142:exon6:c.520-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.520-1G>A;ENST00000589596:exon6:c.520-1G>A;ENST00000513432:exon3:c.186-1G>A)	.	.	0.999958812450268	0.926
18	13015326	G	C	18	13015327	y	y	splicing	CEP192(NM_032142:exon6:c.520-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.520-1G>C;ENST00000589596:exon6:c.520-1G>C;ENST00000513432:exon3:c.186-1G>C)	.	.	0.99996748057446	0.906
18	13015326	G	T	18	13015327	y	y	splicing	CEP192(NM_032142:exon6:c.520-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.520-1G>T;ENST00000589596:exon6:c.520-1G>T;ENST00000513432:exon3:c.186-1G>T)	.	.	0.99996748057446	0.906
18	13015327	A	C	18	13015328	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.A520C:p.I174L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.A520C:p.I174L;ENSG00000101639:ENST00000589596:exon6:c.A520C:p.I174L;	0.00120394009424775	0.11
18	13015327	A	G	18	13015328	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.A520G:p.I174V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.A520G:p.I174V;ENSG00000101639:ENST00000589596:exon6:c.A520G:p.I174V;	2.65251446250131E-5	0.0
18	13015327	A	T	18	13015328	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.A520T:p.I174F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.A520T:p.I174F;ENSG00000101639:ENST00000589596:exon6:c.A520T:p.I174F;	9.39324959144327E-5	0.078
18	13015328	T	A	18	13015329	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.T521A:p.I174N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.T521A:p.I174N;ENSG00000101639:ENST00000589596:exon6:c.T521A:p.I174N;	0.135897374942075	0.346
18	13015328	T	C	18	13015329	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.T521C:p.I174T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.T521C:p.I174T;ENSG00000101639:ENST00000589596:exon6:c.T521C:p.I174T;	0.217508628239933	0.394
18	13015328	T	G	18	13015329	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.T521G:p.I174S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.T521G:p.I174S;ENSG00000101639:ENST00000589596:exon6:c.T521G:p.I174S;	0.236696762600834	0.398
18	13015445	C	A	18	13015446	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.C638A:p.S213Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.C638A:p.S213Y;ENSG00000101639:ENST00000589596:exon6:c.C638A:p.S213Y;	0.833325440355236	0.562
18	13015445	C	G	18	13015446	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.C638G:p.S213C;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.C638G:p.S213C;ENSG00000101639:ENST00000589596:exon6:c.C638G:p.S213C;	0.961170686566313	0.672
18	13015445	C	T	18	13015446	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.C638T:p.S213F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.C638T:p.S213F;ENSG00000101639:ENST00000589596:exon6:c.C638T:p.S213F;	0.997052058041093	0.838
18	13015446	T	A	18	13015447	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon6:c.T639A:p.S213S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.T639A:p.S213S;ENSG00000101639:ENST00000589596:exon6:c.T639A:p.S213S;	6.76580687491511E-4	0.188
18	13015446	T	C	18	13015447	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon6:c.T639C:p.S213S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.T639C:p.S213S;ENSG00000101639:ENST00000589596:exon6:c.T639C:p.S213S;	0.00182130462300814	0.08
18	13015446	T	G	18	13015447	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon6:c.T639G:p.S213S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.T639G:p.S213S;ENSG00000101639:ENST00000589596:exon6:c.T639G:p.S213S;	0.00322800765421239	0.1
18	13015447	G	A	18	13015448	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.G640A:p.D214N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.G640A:p.D214N;ENSG00000101639:ENST00000589596:exon6:c.G640A:p.D214N;	0.999995112673143	0.984
18	13015447	G	C	18	13015448	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.G640C:p.D214H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.G640C:p.D214H;ENSG00000101639:ENST00000589596:exon6:c.G640C:p.D214H;	0.999983886504756	0.962
18	13015447	G	T	18	13015448	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon6:c.G640T:p.D214Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon6:c.G640T:p.D214Y;ENSG00000101639:ENST00000589596:exon6:c.G640T:p.D214Y;	0.999969508788864	0.972
18	13015448	G	A	18	13015449	y	y	splicing	CEP192(NM_032142:exon6:c.640+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.640+1G>A;ENST00000589596:exon6:c.640+1G>A;ENST00000513432:exon3:c.306+1G>A)	.	.	0.999869290337892	0.896
18	13015448	G	C	18	13015449	y	y	splicing	CEP192(NM_032142:exon6:c.640+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.640+1G>C;ENST00000589596:exon6:c.640+1G>C;ENST00000513432:exon3:c.306+1G>C)	.	.	0.999896796890331	0.888
18	13015448	G	T	18	13015449	y	y	splicing	CEP192(NM_032142:exon6:c.640+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.640+1G>T;ENST00000589596:exon6:c.640+1G>T;ENST00000513432:exon3:c.306+1G>T)	.	.	0.999896796890331	0.89
18	13015449	T	A	18	13015450	y	y	splicing	CEP192(NM_032142:exon6:c.640+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.640+2T>A;ENST00000589596:exon6:c.640+2T>A;ENST00000513432:exon3:c.306+2T>A)	.	.	0.999928257623535	0.908
18	13015449	T	C	18	13015450	y	y	splicing	CEP192(NM_032142:exon6:c.640+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.640+2T>C;ENST00000589596:exon6:c.640+2T>C;ENST00000513432:exon3:c.306+2T>C)	.	.	0.997004039413459	0.694
18	13015449	T	G	18	13015450	y	y	splicing	CEP192(NM_032142:exon6:c.640+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon6:c.640+2T>G;ENST00000589596:exon6:c.640+2T>G;ENST00000513432:exon3:c.306+2T>G)	.	.	0.99994335579835	0.888
18	13015450	A	C	18	13015451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999777832743329	0.932
18	13015450	A	G	18	13015451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.993819451477858	0.72
18	13015450	A	T	18	13015451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999829608651737	0.932
18	13015451	C	A	18	13015452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.34059732281853E-4	0.118
18	13015451	C	G	18	13015452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00970172734678988	0.166
18	13015451	C	T	18	13015452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.92591075197235E-4	0.048
18	13015452	T	A	18	13015453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.93890243184918E-5	0.012
18	13015452	T	C	18	13015453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.39496334444684E-5	0.0
18	13015452	T	G	18	13015453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.1528864574583E-5	0.01
18	13015453	G	A	18	13015454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.05307784066229E-4	0.018
18	13015453	G	C	18	13015454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.36358876254396E-4	0.046
18	13015453	G	T	18	13015454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95048459408849E-5	0.022
18	13015454	C	A	18	13015455	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.84820698911775E-5	0.03
18	13015454	C	G	18	13015455	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.3739881618459E-5	0.022
18	13015454	C	T	18	13015455	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.3739881618459E-5	0.044
18	13015455	A	C	18	13015456	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.65682165745183E-5	0.022
18	13015455	A	G	18	13015456	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.985585301397E-5	0.01
18	13015455	A	T	18	13015456	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.76295662720231E-5	0.022
18	13017175	T	A	18	13017176	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00423272379307378	0.374
18	13017175	T	C	18	13017176	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00110179982242518	0.076
18	13017175	T	G	18	13017176	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998790717950347	0.928
18	13017176	T	A	18	13017177	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.981842261279223	0.89
18	13017176	T	C	18	13017177	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0403328743007185	0.286
18	13017176	T	G	18	13017177	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.97794136802202	0.816
18	13017177	T	A	18	13017178	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998458469702713	0.908
18	13017177	T	C	18	13017178	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.49595932009415	0.434
18	13017177	T	G	18	13017178	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99224801311313	0.88
18	13017178	T	A	18	13017179	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997610856336299	0.886
18	13017178	T	C	18	13017179	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.21967246303117	0.344
18	13017178	T	G	18	13017179	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.992777923612612	0.888
18	13017179	A	C	18	13017180	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.71873734812949E-5	0.0
18	13017179	A	G	18	13017180	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.22415991469055E-5	0.0
18	13017179	A	T	18	13017180	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.53793022713413E-5	0.006
18	13017180	T	A	18	13017181	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.109391535971199	0.352
18	13017180	T	C	18	13017181	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.97826048488846E-4	0.144
18	13017180	T	G	18	13017181	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999909398954352	0.99
18	13017181	C	A	18	13017182	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.60147513075354E-4	0.18
18	13017181	C	G	18	13017182	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00163386374530611	0.21
18	13017181	C	T	18	13017182	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.97240673882518E-5	0.02
18	13017182	A	C	18	13017183	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.05401597885746E-4	0.038
18	13017182	A	G	18	13017183	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.74831862522896E-4	0.046
18	13017182	A	T	18	13017183	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.7930008414259E-5	0.048
18	13017183	A	C	18	13017184	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.23362475147382E-4	0.018
18	13017183	A	G	18	13017184	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.983497422782129	0.8
18	13017183	A	T	18	13017184	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.6269115892388E-4	0.022
18	13017184	T	A	18	13017185	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0240706015040958	0.402
18	13017184	T	C	18	13017185	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.75144099885731E-4	0.03
18	13017184	T	G	18	13017185	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.990737053471267	0.674
18	13017185	A	C	18	13017186	y	y	splicing	CEP192(NM_032142:exon7:c.641-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.641-2A>C;ENST00000589596:exon7:c.641-2A>C;ENST00000513432:exon4:c.307-2A>C)	.	.	0.999988893522493	0.932
18	13017185	A	G	18	13017186	y	y	splicing	CEP192(NM_032142:exon7:c.641-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.641-2A>G;ENST00000589596:exon7:c.641-2A>G;ENST00000513432:exon4:c.307-2A>G)	.	.	0.999988893522493	0.932
18	13017185	A	T	18	13017186	y	y	splicing	CEP192(NM_032142:exon7:c.641-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.641-2A>T;ENST00000589596:exon7:c.641-2A>T;ENST00000513432:exon4:c.307-2A>T)	.	.	0.999988893522493	0.932
18	13017186	G	A	18	13017187	y	y	splicing	CEP192(NM_032142:exon7:c.641-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.641-1G>A;ENST00000589596:exon7:c.641-1G>A;ENST00000513432:exon4:c.307-1G>A)	.	.	0.999984967332678	0.95
18	13017186	G	C	18	13017187	y	y	splicing	CEP192(NM_032142:exon7:c.641-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.641-1G>C;ENST00000589596:exon7:c.641-1G>C;ENST00000513432:exon4:c.307-1G>C)	.	.	0.999984967332678	0.904
18	13017186	G	T	18	13017187	y	y	splicing	CEP192(NM_032142:exon7:c.641-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.641-1G>T;ENST00000589596:exon7:c.641-1G>T;ENST00000513432:exon4:c.307-1G>T)	.	.	0.999984967332678	0.95
18	13017187	A	C	18	13017188	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.A641C:p.D214A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.A641C:p.D214A;ENSG00000101639:ENST00000589596:exon7:c.A641C:p.D214A;	0.283045686493931	0.542
18	13017187	A	G	18	13017188	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.A641G:p.D214G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.A641G:p.D214G;ENSG00000101639:ENST00000589596:exon7:c.A641G:p.D214G;	0.225389089673341	0.492
18	13017187	A	T	18	13017188	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.A641T:p.D214V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.A641T:p.D214V;ENSG00000101639:ENST00000589596:exon7:c.A641T:p.D214V;	0.309484587685988	0.49
18	13017188	T	A	18	13017189	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.T642A:p.D214E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.T642A:p.D214E;ENSG00000101639:ENST00000589596:exon7:c.T642A:p.D214E;	0.253305952377797	0.46
18	13017188	T	C	18	13017189	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon7:c.T642C:p.D214D;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.T642C:p.D214D;ENSG00000101639:ENST00000589596:exon7:c.T642C:p.D214D;	0.0195977427429037	0.204
18	13017188	T	G	18	13017189	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.T642G:p.D214E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.T642G:p.D214E;ENSG00000101639:ENST00000589596:exon7:c.T642G:p.D214E;	0.253305952377797	0.442
18	13017333	C	A	18	13017334	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.C787A:p.Q263K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.C787A:p.Q263K;ENSG00000101639:ENST00000589596:exon7:c.C787A:p.Q263K;	3.15486668520949E-5	0.18
18	13017333	C	G	18	13017334	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.C787G:p.Q263E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.C787G:p.Q263E;ENSG00000101639:ENST00000589596:exon7:c.C787G:p.Q263E;	5.75801222045488E-5	0.028
18	13017333	C	T	18	13017334	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon7:c.C787T:p.Q263X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000506447:exon7:c.C787T:p.Q263X;ENSG00000101639:ENST00000589596:exon7:c.C787T:p.Q263X;	0.942912250548906	0.628
18	13017334	A	C	18	13017335	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.A788C:p.Q263P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.A788C:p.Q263P;ENSG00000101639:ENST00000589596:exon7:c.A788C:p.Q263P;	0.219523165026028	0.612
18	13017334	A	G	18	13017335	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.A788G:p.Q263R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.A788G:p.Q263R;ENSG00000101639:ENST00000589596:exon7:c.A788G:p.Q263R;	0.369821727285321	0.572
18	13017334	A	T	18	13017335	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.A788T:p.Q263L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.A788T:p.Q263L;ENSG00000101639:ENST00000589596:exon7:c.A788T:p.Q263L;	0.849153439352476	0.738
18	13017335	G	A	18	13017336	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon7:c.G789A:p.Q263Q;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.G789A:p.Q263Q;ENSG00000101639:ENST00000589596:exon7:c.G789A:p.Q263Q;	0.999470232069558	0.926
18	13017335	G	C	18	13017336	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.G789C:p.Q263H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.G789C:p.Q263H;ENSG00000101639:ENST00000589596:exon7:c.G789C:p.Q263H;	0.999901906880936	0.88
18	13017335	G	T	18	13017336	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon7:c.G789T:p.Q263H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon7:c.G789T:p.Q263H;ENSG00000101639:ENST00000589596:exon7:c.G789T:p.Q263H;	0.999338446172384	0.888
18	13017336	G	A	18	13017337	y	y	splicing	CEP192(NM_032142:exon7:c.789+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.789+1G>A;ENST00000589596:exon7:c.789+1G>A;ENST00000513432:exon4:c.455+1G>A)	.	.	0.999977614472875	0.752
18	13017336	G	C	18	13017337	y	y	splicing	CEP192(NM_032142:exon7:c.789+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.789+1G>C;ENST00000589596:exon7:c.789+1G>C;ENST00000513432:exon4:c.455+1G>C)	.	.	0.999987958061382	0.762
18	13017336	G	T	18	13017337	y	y	splicing	CEP192(NM_032142:exon7:c.789+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.789+1G>T;ENST00000589596:exon7:c.789+1G>T;ENST00000513432:exon4:c.455+1G>T)	.	.	0.999977614472875	0.76
18	13017337	T	A	18	13017338	y	y	splicing	CEP192(NM_032142:exon7:c.789+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.789+2T>A;ENST00000589596:exon7:c.789+2T>A;ENST00000513432:exon4:c.455+2T>A)	.	.	0.999980255680118	0.736
18	13017337	T	C	18	13017338	y	y	splicing	CEP192(NM_032142:exon7:c.789+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.789+2T>C;ENST00000589596:exon7:c.789+2T>C;ENST00000513432:exon4:c.455+2T>C)	.	.	0.999024110030186	0.634
18	13017337	T	G	18	13017338	y	y	splicing	CEP192(NM_032142:exon7:c.789+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon7:c.789+2T>G;ENST00000589596:exon7:c.789+2T>G;ENST00000513432:exon4:c.455+2T>G)	.	.	0.999984399620937	0.74
18	13017338	G	A	18	13017339	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.19599001344467E-5	0.07
18	13017338	G	C	18	13017339	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.92595721931308E-4	0.058
18	13017338	G	T	18	13017339	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.02108471614894E-4	0.102
18	13017339	T	A	18	13017340	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.40910632689969E-4	0.122
18	13017339	T	C	18	13017340	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.20297205669871E-4	0.062
18	13017339	T	G	18	13017340	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.08424085068238E-5	0.048
18	13017340	G	A	18	13017341	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.973496133569205	0.616
18	13017340	G	C	18	13017341	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997822714661876	0.762
18	13017340	G	T	18	13017341	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996870728702793	0.686
18	13017341	T	A	18	13017342	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.736689110641216	0.386
18	13017341	T	C	18	13017342	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.36622380317193	0.368
18	13017341	T	G	18	13017342	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.165516435210447	0.288
18	13017342	T	A	18	13017343	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.03027671160306E-5	0.006
18	13017342	T	C	18	13017343	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.03027671160306E-5	0.006
18	13017342	T	G	18	13017343	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.52800540419727E-5	0.002
18	13017343	C	A	18	13017344	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.09135472575344E-5	0.002
18	13017343	C	G	18	13017344	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.31131805973559E-5	0.036
18	13017343	C	T	18	13017344	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.26302711753906E-5	0.002
18	13018467	T	A	18	13018468	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0279811305012541	0.258
18	13018467	T	C	18	13018468	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.28560361494047E-4	0.086
18	13018467	T	G	18	13018468	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999933739903585	0.936
18	13018468	T	A	18	13018469	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.902916594439085	0.594
18	13018468	T	C	18	13018469	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0158016324372147	0.196
18	13018468	T	G	18	13018469	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.58465510304646	0.494
18	13018469	C	A	18	13018470	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.47739618185386E-4	0.102
18	13018469	C	G	18	13018470	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.89013585074894E-4	0.038
18	13018469	C	T	18	13018470	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.17040174753982E-5	0.0
18	13018470	T	A	18	13018471	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.991891334117793	0.856
18	13018470	T	C	18	13018471	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0129059448553519	0.154
18	13018470	T	G	18	13018471	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.915769017555798	0.808
18	13018471	T	A	18	13018472	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0287936997539688	0.214
18	13018471	T	C	18	13018472	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.20041413647691E-4	0.038
18	13018471	T	G	18	13018472	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0024015572992336	0.124
18	13018472	T	A	18	13018473	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.664480505283202	0.624
18	13018472	T	C	18	13018473	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.24020528351139E-4	0.032
18	13018472	T	G	18	13018473	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.544477257474099	0.57
18	13018473	C	A	18	13018474	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00195414756894323	0.204
18	13018473	C	G	18	13018474	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00589219671398704	0.222
18	13018473	C	T	18	13018474	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.02564033717916E-4	0.0
18	13018474	A	C	18	13018475	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.88685526412493E-4	0.006
18	13018474	A	G	18	13018475	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0019641303736486	0.022
18	13018474	A	T	18	13018475	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.38237250091485E-4	0.012
18	13018475	A	C	18	13018476	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.9649009709987E-4	0.076
18	13018475	A	G	18	13018476	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998203813559135	0.95
18	13018475	A	T	18	13018476	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00371684209292461	0.032
18	13018476	C	A	18	13018477	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.944547152305583	0.726
18	13018476	C	G	18	13018477	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999026882669313	0.7
18	13018476	C	T	18	13018477	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0203202202927848	0.32
18	13018477	A	C	18	13018478	y	y	splicing	CEP192(NM_032142:exon8:c.790-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.790-2A>C;ENST00000589596:exon8:c.790-2A>C;ENST00000513432:exon5:c.456-2A>C)	.	.	0.999978986619032	0.964
18	13018477	A	G	18	13018478	y	y	splicing	CEP192(NM_032142:exon8:c.790-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.790-2A>G;ENST00000589596:exon8:c.790-2A>G;ENST00000513432:exon5:c.456-2A>G)	.	.	0.999978986619032	0.964
18	13018477	A	T	18	13018478	y	y	splicing	CEP192(NM_032142:exon8:c.790-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.790-2A>T;ENST00000589596:exon8:c.790-2A>T;ENST00000513432:exon5:c.456-2A>T)	.	.	0.999978791067592	0.962
18	13018478	G	A	18	13018479	y	y	splicing	CEP192(NM_032142:exon8:c.790-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.790-1G>A;ENST00000589596:exon8:c.790-1G>A;ENST00000513432:exon5:c.456-1G>A)	.	.	0.999946188727699	0.962
18	13018478	G	C	18	13018479	y	y	splicing	CEP192(NM_032142:exon8:c.790-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.790-1G>C;ENST00000589596:exon8:c.790-1G>C;ENST00000513432:exon5:c.456-1G>C)	.	.	0.999946188727699	0.946
18	13018478	G	T	18	13018479	y	y	splicing	CEP192(NM_032142:exon8:c.790-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.790-1G>T;ENST00000589596:exon8:c.790-1G>T;ENST00000513432:exon5:c.456-1G>T)	.	.	0.999946188727699	0.962
18	13018479	G	A	18	13018480	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.G790A:p.A264T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.G790A:p.A264T;ENSG00000101639:ENST00000589596:exon8:c.G790A:p.A264T;	0.0531934148169376	0.342
18	13018479	G	C	18	13018480	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.G790C:p.A264P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.G790C:p.A264P;ENSG00000101639:ENST00000589596:exon8:c.G790C:p.A264P;	0.569951987711694	0.748
18	13018479	G	T	18	13018480	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.G790T:p.A264S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.G790T:p.A264S;ENSG00000101639:ENST00000589596:exon8:c.G790T:p.A264S;	0.663657600427113	0.692
18	13018480	C	A	18	13018481	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.C791A:p.A264E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.C791A:p.A264E;ENSG00000101639:ENST00000589596:exon8:c.C791A:p.A264E;	2.544207545062E-4	0.042
18	13018480	C	G	18	13018481	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.C791G:p.A264G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.C791G:p.A264G;ENSG00000101639:ENST00000589596:exon8:c.C791G:p.A264G;	9.52577287149164E-4	0.166
18	13018480	C	T	18	13018481	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.C791T:p.A264V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.C791T:p.A264V;ENSG00000101639:ENST00000589596:exon8:c.C791T:p.A264V;	6.90005188504293E-5	0.0
18	13018612	C	A	18	13018613	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.C923A:p.T308N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.C923A:p.T308N;ENSG00000101639:ENST00000589596:exon8:c.C923A:p.T308N;	1.77508503617274E-4	0.006
18	13018612	C	G	18	13018613	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.C923G:p.T308S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.C923G:p.T308S;ENSG00000101639:ENST00000589596:exon8:c.C923G:p.T308S;	6.15396301989647E-4	0.09
18	13018612	C	T	18	13018613	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.C923T:p.T308I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.C923T:p.T308I;ENSG00000101639:ENST00000589596:exon8:c.C923T:p.T308I;	0.00876811438688591	0.21
18	13018613	T	A	18	13018614	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon8:c.T924A:p.T308T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.T924A:p.T308T;ENSG00000101639:ENST00000589596:exon8:c.T924A:p.T308T;	3.33945306500054E-4	0.184
18	13018613	T	C	18	13018614	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon8:c.T924C:p.T308T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.T924C:p.T308T;ENSG00000101639:ENST00000589596:exon8:c.T924C:p.T308T;	5.60610257070665E-5	0.002
18	13018613	T	G	18	13018614	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon8:c.T924G:p.T308T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.T924G:p.T308T;ENSG00000101639:ENST00000589596:exon8:c.T924G:p.T308T;	7.21375321457706E-5	0.028
18	13018614	A	C	18	13018615	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.A925C:p.S309R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.A925C:p.S309R;ENSG00000101639:ENST00000589596:exon8:c.A925C:p.S309R;	1.03248770495526E-4	0.042
18	13018614	A	G	18	13018615	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.A925G:p.S309G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.A925G:p.S309G;ENSG00000101639:ENST00000589596:exon8:c.A925G:p.S309G;	6.99109195176204E-5	0.04
18	13018614	A	T	18	13018615	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon8:c.A925T:p.S309C;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon8:c.A925T:p.S309C;ENSG00000101639:ENST00000589596:exon8:c.A925T:p.S309C;	2.47515666643829E-4	0.066
18	13018615	G	A	18	13018616	y	y	splicing	CEP192(NM_032142:exon8:c.925+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.925+1G>A;ENST00000589596:exon8:c.925+1G>A;ENST00000513432:exon5:c.591+1G>A)	.	.	0.999946188727699	0.95
18	13018615	G	C	18	13018616	y	y	splicing	CEP192(NM_032142:exon8:c.925+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.925+1G>C;ENST00000589596:exon8:c.925+1G>C;ENST00000513432:exon5:c.591+1G>C)	.	.	0.999946188727699	0.942
18	13018615	G	T	18	13018616	y	y	splicing	CEP192(NM_032142:exon8:c.925+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.925+1G>T;ENST00000589596:exon8:c.925+1G>T;ENST00000513432:exon5:c.591+1G>T)	.	.	0.999946188727699	0.946
18	13018616	T	A	18	13018617	y	y	splicing	CEP192(NM_032142:exon8:c.925+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.925+2T>A;ENST00000589596:exon8:c.925+2T>A;ENST00000513432:exon5:c.591+2T>A)	.	.	0.999978791067592	0.944
18	13018616	T	C	18	13018617	y	y	splicing	CEP192(NM_032142:exon8:c.925+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.925+2T>C;ENST00000589596:exon8:c.925+2T>C;ENST00000513432:exon5:c.591+2T>C)	.	.	0.970812453639359	0.592
18	13018616	T	G	18	13018617	y	y	splicing	CEP192(NM_032142:exon8:c.925+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon8:c.925+2T>G;ENST00000589596:exon8:c.925+2T>G;ENST00000513432:exon5:c.591+2T>G)	.	.	0.999978986619032	0.946
18	13018617	A	C	18	13018618	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999661639031223	0.88
18	13018617	A	G	18	13018618	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0210792852191553	0.188
18	13018617	A	T	18	13018618	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99955809466209	0.92
18	13018618	A	C	18	13018619	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.913099096134622	0.61
18	13018618	A	G	18	13018619	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.983218902177916	0.738
18	13018618	A	T	18	13018619	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.976555826282009	0.64
18	13018619	G	A	18	13018620	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99998107798581	0.99
18	13018619	G	C	18	13018620	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99998107798581	0.98
18	13018619	G	T	18	13018620	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99998107798581	0.998
18	13018620	T	A	18	13018621	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.967847688483959	0.66
18	13018620	T	C	18	13018621	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.977877660269029	0.76
18	13018620	T	G	18	13018621	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.913505351781347	0.748
18	13018621	A	C	18	13018622	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00171142876556109	0.01
18	13018621	A	G	18	13018622	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00129784405364694	0.006
18	13018621	A	T	18	13018622	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.05643325883337E-4	0.004
18	13018622	T	A	18	13018623	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.10869276993352E-4	0.0
18	13018622	T	C	18	13018623	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.8503589740489E-5	0.002
18	13018622	T	G	18	13018623	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.79622447539363E-5	0.0
18	13019069	T	A	18	13019070	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.73331684511032E-5	0.14
18	13019069	T	C	18	13019070	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.26109538939972E-5	0.028
18	13019069	T	G	18	13019070	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.10755583662383E-5	0.11
18	13019070	T	A	18	13019071	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00173821731740208	0.286
18	13019070	T	C	18	13019071	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.21393516354243E-4	0.138
18	13019070	T	G	18	13019071	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00158068354953801	0.272
18	13019071	A	C	18	13019072	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.85627165108469E-6	0.012
18	13019071	A	G	18	13019072	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.03517924706218E-6	0.01
18	13019071	A	T	18	13019072	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.4718482487233E-6	0.016
18	13019072	T	A	18	13019073	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.9474748867805E-5	0.054
18	13019072	T	C	18	13019073	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.05960276816382E-5	0.004
18	13019072	T	G	18	13019073	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.414569037391846	0.39
18	13019073	T	A	18	13019074	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.60958797050736E-5	0.028
18	13019073	T	C	18	13019074	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.31072578752283E-5	0.07
18	13019073	T	G	18	13019074	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.96013126660208E-5	0.028
18	13019074	T	A	18	13019075	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.79242043192977E-5	0.05
18	13019074	T	C	18	13019075	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.25517706342755E-5	0.076
18	13019074	T	G	18	13019075	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.08917800104238E-5	0.06
18	13019075	T	A	18	13019076	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.85320290423082E-4	0.176
18	13019075	T	C	18	13019076	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.54964323972414E-4	0.064
18	13019075	T	G	18	13019076	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.4006005604945E-4	0.22
18	13019076	T	A	18	13019077	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00305948298596099	0.264
18	13019076	T	C	18	13019077	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00182491304182615	0.108
18	13019076	T	G	18	13019077	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00420858907341275	0.296
18	13019077	T	A	18	13019078	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.72193136640245E-5	0.102
18	13019077	T	C	18	13019078	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.76334881523467E-5	0.142
18	13019077	T	G	18	13019078	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.63984311623072E-5	0.058
18	13019078	C	A	18	13019079	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0184982626005376	0.406
18	13019078	C	G	18	13019079	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996002768594666	0.664
18	13019078	C	T	18	13019079	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.44544024321053E-4	0.306
18	13019079	A	C	18	13019080	y	y	splicing	CEP192(NM_032142:exon9:c.926-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.926-2A>C;ENST00000589596:exon9:c.926-2A>C;ENST00000513432:exon6:c.592-2A>C)	.	.	0.999968624618023	0.624
18	13019079	A	G	18	13019080	y	y	splicing	CEP192(NM_032142:exon9:c.926-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.926-2A>G;ENST00000589596:exon9:c.926-2A>G;ENST00000513432:exon6:c.592-2A>G)	.	.	0.999968624618023	0.624
18	13019079	A	T	18	13019080	y	y	splicing	CEP192(NM_032142:exon9:c.926-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.926-2A>T;ENST00000589596:exon9:c.926-2A>T;ENST00000513432:exon6:c.592-2A>T)	.	.	0.999968624618023	0.644
18	13019080	G	A	18	13019081	y	y	splicing	CEP192(NM_032142:exon9:c.926-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.926-1G>A;ENST00000589596:exon9:c.926-1G>A;ENST00000513432:exon6:c.592-1G>A)	.	.	0.999391661045359	0.574
18	13019080	G	C	18	13019081	y	y	splicing	CEP192(NM_032142:exon9:c.926-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.926-1G>C;ENST00000589596:exon9:c.926-1G>C;ENST00000513432:exon6:c.592-1G>C)	.	.	0.999391661045359	0.568
18	13019080	G	T	18	13019081	y	y	splicing	CEP192(NM_032142:exon9:c.926-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.926-1G>T;ENST00000589596:exon9:c.926-1G>T;ENST00000513432:exon6:c.592-1G>T)	.	.	0.999391661045359	0.57
18	13019081	G	A	18	13019082	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.G926A:p.S309N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.G926A:p.S309N;ENSG00000101639:ENST00000589596:exon9:c.G926A:p.S309N;	8.20660690886483E-5	0.052
18	13019081	G	C	18	13019082	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.G926C:p.S309T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.G926C:p.S309T;ENSG00000101639:ENST00000589596:exon9:c.G926C:p.S309T;	0.00168349329698023	0.136
18	13019081	G	T	18	13019082	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.G926T:p.S309I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.G926T:p.S309I;ENSG00000101639:ENST00000589596:exon9:c.G926T:p.S309I;	0.0242735529330125	0.216
18	13019082	T	A	18	13019083	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.T927A:p.S309R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.T927A:p.S309R;ENSG00000101639:ENST00000589596:exon9:c.T927A:p.S309R;	0.00117303450195769	0.02
18	13019082	T	C	18	13019083	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon9:c.T927C:p.S309S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.T927C:p.S309S;ENSG00000101639:ENST00000589596:exon9:c.T927C:p.S309S;	3.86422332523189E-4	0.082
18	13019082	T	G	18	13019083	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.T927G:p.S309R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.T927G:p.S309R;ENSG00000101639:ENST00000589596:exon9:c.T927G:p.S309R;	8.13952642727312E-4	0.038
18	13019203	A	C	18	13019204	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.A1048C:p.S350R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.A1048C:p.S350R;	5.78415332069808E-5	0.146
18	13019203	A	G	18	13019204	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.A1048G:p.S350G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.A1048G:p.S350G;	2.43580938407222E-5	0.004
18	13019203	A	T	18	13019204	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.A1048T:p.S350C;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.A1048T:p.S350C;	3.1673054128225E-4	0.126
18	13019204	G	A	18	13019205	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.G1049A:p.S350N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.G1049A:p.S350N;	5.2467797141881E-5	0.056
18	13019204	G	C	18	13019205	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.G1049C:p.S350T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.G1049C:p.S350T;	2.30033486752357E-5	0.008
18	13019204	G	T	18	13019205	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.G1049T:p.S350I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.G1049T:p.S350I;	5.90209217851814E-5	0.002
18	13019205	T	A	18	13019206	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.T1050A:p.S350R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.T1050A:p.S350R;	4.09993646758476E-5	0.104
18	13019205	T	C	18	13019206	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon9:c.T1050C:p.S350S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.T1050C:p.S350S;	1.98144446294903E-5	0.014
18	13019205	T	G	18	13019206	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon9:c.T1050G:p.S350R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon9:c.T1050G:p.S350R;	5.99725831128811E-5	0.05
18	13019206	G	A	18	13019207	y	y	splicing	CEP192(NM_032142:exon9:c.1050+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.1050+1G>A;ENST00000513432:exon6:c.716+1G>A)	.	.	0.999974045756012	0.742
18	13019206	G	C	18	13019207	y	y	splicing	CEP192(NM_032142:exon9:c.1050+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.1050+1G>C;ENST00000513432:exon6:c.716+1G>C)	.	.	0.999974045756012	0.742
18	13019206	G	T	18	13019207	y	y	splicing	CEP192(NM_032142:exon9:c.1050+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.1050+1G>T;ENST00000513432:exon6:c.716+1G>T)	.	.	0.999974045756012	0.742
18	13019207	T	A	18	13019208	y	y	splicing	CEP192(NM_032142:exon9:c.1050+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.1050+2T>A;ENST00000513432:exon6:c.716+2T>A)	.	.	0.999994413342239	0.76
18	13019207	T	C	18	13019208	y	y	splicing	CEP192(NM_032142:exon9:c.1050+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.1050+2T>C;ENST00000513432:exon6:c.716+2T>C)	.	.	0.870700301951892	0.466
18	13019207	T	G	18	13019208	y	y	splicing	CEP192(NM_032142:exon9:c.1050+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon9:c.1050+2T>G;ENST00000513432:exon6:c.716+2T>G)	.	.	0.999986348107035	0.748
18	13019208	A	C	18	13019209	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999741735202635	0.874
18	13019208	A	G	18	13019209	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00140502741388981	0.17
18	13019208	A	T	18	13019209	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999774989432945	0.88
18	13019209	A	C	18	13019210	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.984261828370965	0.642
18	13019209	A	G	18	13019210	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.987361190800369	0.822
18	13019209	A	T	18	13019210	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.981066677205601	0.734
18	13019210	G	A	18	13019211	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999968569541188	0.86
18	13019210	G	C	18	13019211	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999941321258412	0.832
18	13019210	G	T	18	13019211	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999986741755552	0.868
18	13019211	T	A	18	13019212	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.85517647879421	0.632
18	13019211	T	C	18	13019212	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.689222756092295	0.568
18	13019211	T	G	18	13019212	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.48536810419196	0.62
18	13019212	T	A	18	13019213	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.75987477799094E-5	0.034
18	13019212	T	C	18	13019213	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.97129727874217E-5	0.032
18	13019212	T	G	18	13019213	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.4741606012761E-5	0.032
18	13019213	A	C	18	13019214	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.45200919106823E-5	0.038
18	13019213	A	G	18	13019214	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.91550617487977E-5	0.032
18	13019213	A	T	18	13019214	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.45200919106823E-5	0.012
18	13029650	T	A	18	13029651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00160721736335297	0.082
18	13029650	T	C	18	13029651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.72688301982245E-4	0.012
18	13029650	T	G	18	13029651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.46236325755166E-4	0.132
18	13029651	T	A	18	13029652	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.51082666809238E-4	0.198
18	13029651	T	C	18	13029652	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.46177512640188E-5	0.088
18	13029651	T	G	18	13029652	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.13491958721998E-4	0.176
18	13029652	T	A	18	13029653	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.982428192227099	0.74
18	13029652	T	C	18	13029653	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.13030993418773E-5	0.002
18	13029652	T	G	18	13029653	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.4414189094972E-4	0.038
18	13029653	G	A	18	13029654	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.72778436027784E-5	0.0
18	13029653	G	C	18	13029654	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.55759298737284E-5	0.0
18	13029653	G	T	18	13029654	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.25614167116688E-5	0.006
18	13029654	T	A	18	13029655	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0271880770103892	0.19
18	13029654	T	C	18	13029655	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.12764749648133E-4	0.034
18	13029654	T	G	18	13029655	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00394169651557168	0.162
18	13029655	T	A	18	13029656	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00870400203451456	0.146
18	13029655	T	C	18	13029656	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.70872219360204E-5	0.0
18	13029655	T	G	18	13029656	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.67505677838229E-4	0.074
18	13029656	T	A	18	13029657	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0220571968594321	0.248
18	13029656	T	C	18	13029657	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.96392837950129E-4	0.072
18	13029656	T	G	18	13029657	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0297955685540265	0.312
18	13029657	T	A	18	13029658	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00276901378741271	0.206
18	13029657	T	C	18	13029658	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.2640208437023E-4	0.076
18	13029657	T	G	18	13029658	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0115637284578423	0.254
18	13029658	A	C	18	13029659	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.37692992248644E-5	0.0
18	13029658	A	G	18	13029659	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.77457243820827E-5	0.002
18	13029658	A	T	18	13029659	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.22328275941318E-5	0.0
18	13029659	A	C	18	13029660	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.05649281757684E-5	0.022
18	13029659	A	G	18	13029660	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0970917843513854	0.308
18	13029659	A	T	18	13029660	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.52189341700713E-6	0.0
18	13029660	A	C	18	13029661	y	y	splicing	CEP192(NM_032142:exon10:c.1051-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1051-2A>C;ENST00000513432:exon7:c.717-2A>C)	.	.	0.999941977319723	0.75
18	13029660	A	G	18	13029661	y	y	splicing	CEP192(NM_032142:exon10:c.1051-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1051-2A>G;ENST00000513432:exon7:c.717-2A>G)	.	.	0.999941977319723	0.75
18	13029660	A	T	18	13029661	y	y	splicing	CEP192(NM_032142:exon10:c.1051-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1051-2A>T;ENST00000513432:exon7:c.717-2A>T)	.	.	0.999941977319723	0.758
18	13029661	G	A	18	13029662	y	y	splicing	CEP192(NM_032142:exon10:c.1051-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1051-1G>A;ENST00000513432:exon7:c.717-1G>A)	.	.	0.999987958061382	0.772
18	13029661	G	C	18	13029662	y	y	splicing	CEP192(NM_032142:exon10:c.1051-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1051-1G>C;ENST00000513432:exon7:c.717-1G>C)	.	.	0.999987958061382	0.774
18	13029661	G	T	18	13029662	y	y	splicing	CEP192(NM_032142:exon10:c.1051-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1051-1G>T;ENST00000513432:exon7:c.717-1G>T)	.	.	0.999987958061382	0.772
18	13029662	G	A	18	13029663	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.G1051A:p.E351K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon10:c.G1051A:p.E351K;	0.289531869476446	0.548
18	13029662	G	C	18	13029663	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.G1051C:p.E351Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon10:c.G1051C:p.E351Q;	0.940522125026534	0.582
18	13029662	G	T	18	13029663	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon10:c.G1051T:p.E351X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000506447:exon10:c.G1051T:p.E351X;	0.999929795606496	0.98
18	13029663	A	C	18	13029664	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.A1052C:p.E351A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon10:c.A1052C:p.E351A;	4.43208652101262E-4	0.014
18	13029663	A	G	18	13029664	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.A1052G:p.E351G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon10:c.A1052G:p.E351G;	8.21155396126425E-5	0.014
18	13029663	A	T	18	13029664	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.A1052T:p.E351V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000506447:exon10:c.A1052T:p.E351V;	5.56104657829661E-4	0.01
18	13029999	A	C	18	13030000	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.A1388C:p.D463A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon1:c.A188C:p.D63A;ENSG00000101639:ENST00000506447:exon10:c.A1388C:p.D463A;ENSG00000101639:ENST00000430049:exon1:c.A173C:p.D58A;	0.0125834361380053	0.104
18	13029999	A	G	18	13030000	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.A1388G:p.D463G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon1:c.A188G:p.D63G;ENSG00000101639:ENST00000506447:exon10:c.A1388G:p.D463G;ENSG00000101639:ENST00000430049:exon1:c.A173G:p.D58G;	0.00861365297503067	0.214
18	13029999	A	T	18	13030000	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.A1388T:p.D463V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon1:c.A188T:p.D63V;ENSG00000101639:ENST00000506447:exon10:c.A1388T:p.D463V;ENSG00000101639:ENST00000430049:exon1:c.A173T:p.D58V;	0.599633360639969	0.32
18	13030000	C	A	18	13030001	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.C1389A:p.D463E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon1:c.C189A:p.D63E;ENSG00000101639:ENST00000506447:exon10:c.C1389A:p.D463E;ENSG00000101639:ENST00000430049:exon1:c.C174A:p.D58E;	1.19293530746313E-4	0.15
18	13030000	C	G	18	13030001	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.C1389G:p.D463E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon1:c.C189G:p.D63E;ENSG00000101639:ENST00000506447:exon10:c.C1389G:p.D463E;ENSG00000101639:ENST00000430049:exon1:c.C174G:p.D58E;	3.19717823397443E-4	0.008
18	13030000	C	T	18	13030001	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon10:c.C1389T:p.D463D;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon1:c.C189T:p.D63D;ENSG00000101639:ENST00000506447:exon10:c.C1389T:p.D463D;ENSG00000101639:ENST00000430049:exon1:c.C174T:p.D58D;	2.10756407154408E-4	0.028
18	13030001	A	C	18	13030002	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.A1390C:p.K464Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon1:c.A190C:p.K64Q;ENSG00000101639:ENST00000506447:exon10:c.A1390C:p.K464Q;ENSG00000101639:ENST00000430049:exon1:c.A175C:p.K59Q;	1.02994136945288E-4	0.012
18	13030001	A	G	18	13030002	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon10:c.A1390G:p.K464E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon1:c.A190G:p.K64E;ENSG00000101639:ENST00000506447:exon10:c.A1390G:p.K464E;ENSG00000101639:ENST00000430049:exon1:c.A175G:p.K59E;	6.7177755202068E-4	0.18
18	13030001	A	T	18	13030002	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon10:c.A1390T:p.K464X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon1:c.A190T:p.K64X;ENSG00000101639:ENST00000506447:exon10:c.A1390T:p.K464X;ENSG00000101639:ENST00000430049:exon1:c.A175T:p.K59X;	7.3562344787174E-4	0.18
18	13030002	G	A	18	13030003	y	y	splicing	CEP192(NM_032142:exon10:c.1390+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1390+1G>A;ENST00000513432:exon7:c.1056+1G>A;ENST00000430049:exon1:c.175+1G>A;ENST00000511820:exon1:c.216+1G>A;ENST00000510237:exon1:c.190+1G>A)	.	.	0.999978952611685	0.916
18	13030002	G	C	18	13030003	y	y	splicing	CEP192(NM_032142:exon10:c.1390+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1390+1G>C;ENST00000513432:exon7:c.1056+1G>C;ENST00000430049:exon1:c.175+1G>C;ENST00000511820:exon1:c.216+1G>C;ENST00000510237:exon1:c.190+1G>C)	.	.	0.99994568797423	0.916
18	13030002	G	T	18	13030003	y	y	splicing	CEP192(NM_032142:exon10:c.1390+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1390+1G>T;ENST00000513432:exon7:c.1056+1G>T;ENST00000430049:exon1:c.175+1G>T;ENST00000511820:exon1:c.216+1G>T;ENST00000510237:exon1:c.190+1G>T)	.	.	0.999970661931818	0.916
18	13030003	T	A	18	13030004	y	y	splicing	CEP192(NM_032142:exon10:c.1390+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1390+2T>A;ENST00000513432:exon7:c.1056+2T>A;ENST00000430049:exon1:c.175+2T>A;ENST00000511820:exon1:c.216+2T>A;ENST00000510237:exon1:c.190+2T>A)	.	.	0.999991582404039	0.926
18	13030003	T	C	18	13030004	y	y	splicing	CEP192(NM_032142:exon10:c.1390+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1390+2T>C;ENST00000513432:exon7:c.1056+2T>C;ENST00000430049:exon1:c.175+2T>C;ENST00000511820:exon1:c.216+2T>C;ENST00000510237:exon1:c.190+2T>C)	.	.	0.99278267326841	0.624
18	13030003	T	G	18	13030004	y	y	splicing	CEP192(NM_032142:exon10:c.1390+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon10:c.1390+2T>G;ENST00000513432:exon7:c.1056+2T>G;ENST00000430049:exon1:c.175+2T>G;ENST00000511820:exon1:c.216+2T>G;ENST00000510237:exon1:c.190+2T>G)	.	.	0.999978278263889	0.926
18	13030004	A	C	18	13030005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999877925927651	0.912
18	13030004	A	G	18	13030005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0173090729891975	0.134
18	13030004	A	T	18	13030005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999872048421553	0.916
18	13030005	A	C	18	13030006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.966993351956937	0.706
18	13030005	A	G	18	13030006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996632633766665	0.812
18	13030005	A	T	18	13030006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.992854820272356	0.768
18	13030006	G	A	18	13030007	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999984294912749	0.98
18	13030006	G	C	18	13030007	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99998107798581	0.972
18	13030006	G	T	18	13030007	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999984294912749	0.982
18	13030007	T	A	18	13030008	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.881461362665543	0.522
18	13030007	T	C	18	13030008	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.769550297648544	0.574
18	13030007	T	G	18	13030008	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.926046932231655	0.646
18	13030008	G	A	18	13030009	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.22472574505114E-5	0.0
18	13030008	G	C	18	13030009	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.01735944635326E-5	0.002
18	13030008	G	T	18	13030009	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.29446782330888E-5	0.008
18	13030009	G	A	18	13030010	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.42709477187589E-5	0.0
18	13030009	G	C	18	13030010	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.76135533459969E-5	0.0
18	13030009	G	T	18	13030010	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.20139660973844E-5	0.002
18	13030452	T	A	18	13030453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.899041445730799	0.782
18	13030452	T	C	18	13030453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00615454873463196	0.124
18	13030452	T	G	18	13030453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.954925243540004	0.734
18	13030453	T	A	18	13030454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.9865986311403	0.706
18	13030453	T	C	18	13030454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0512422253035245	0.288
18	13030453	T	G	18	13030454	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.855615630428507	0.624
18	13030454	T	A	18	13030455	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.392129023885192	0.606
18	13030454	T	C	18	13030455	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00109726703047129	0.14
18	13030454	T	G	18	13030455	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.764769014270233	0.592
18	13030455	A	C	18	13030456	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.62047997137308E-4	0.018
18	13030455	A	G	18	13030456	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.18176077670984E-5	0.006
18	13030455	A	T	18	13030456	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.13538714850768E-4	0.022
18	13030456	T	A	18	13030457	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00661350516358128	0.072
18	13030456	T	C	18	13030457	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.5091718442252E-5	0.004
18	13030456	T	G	18	13030457	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999953665537263	0.996
18	13030457	T	A	18	13030458	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0083265728595083	0.058
18	13030457	T	C	18	13030458	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.35836704949827E-5	0.014
18	13030457	T	G	18	13030458	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00555900481979559	0.07
18	13030458	T	A	18	13030459	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.923730550820879	0.548
18	13030458	T	C	18	13030459	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.34936001895444E-4	0.034
18	13030458	T	G	18	13030459	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.867149014132022	0.538
18	13030459	T	A	18	13030460	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.98169457104569	0.606
18	13030459	T	C	18	13030460	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0306361225213168	0.148
18	13030459	T	G	18	13030460	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997020379243097	0.672
18	13030460	T	A	18	13030461	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.9447102391565E-5	0.002
18	13030460	T	C	18	13030461	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.0511937213739E-5	0.002
18	13030460	T	G	18	13030461	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.79512546678651E-4	0.01
18	13030461	T	A	18	13030462	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0177416959433212	0.312
18	13030461	T	C	18	13030462	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.0782573377249E-5	0.008
18	13030461	T	G	18	13030462	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.955136929539946	0.682
18	13030462	A	C	18	13030463	y	y	splicing	CEP192(NM_032142:exon11:c.1391-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon11:c.1391-2A>C;ENST00000513432:exon8:c.1057-2A>C;ENST00000430049:exon2:c.176-2A>C;ENST00000511820:exon2:c.217-2A>C;ENST00000510237:exon2:c.191-2A>C)	.	.	0.9999784785434	0.944
18	13030462	A	G	18	13030463	y	y	splicing	CEP192(NM_032142:exon11:c.1391-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon11:c.1391-2A>G;ENST00000513432:exon8:c.1057-2A>G;ENST00000430049:exon2:c.176-2A>G;ENST00000511820:exon2:c.217-2A>G;ENST00000510237:exon2:c.191-2A>G)	.	.	0.9999784785434	0.944
18	13030462	A	T	18	13030463	y	y	splicing	CEP192(NM_032142:exon11:c.1391-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon11:c.1391-2A>T;ENST00000513432:exon8:c.1057-2A>T;ENST00000430049:exon2:c.176-2A>T;ENST00000511820:exon2:c.217-2A>T;ENST00000510237:exon2:c.191-2A>T)	.	.	0.999978278263889	0.944
18	13030463	G	A	18	13030464	y	y	splicing	CEP192(NM_032142:exon11:c.1391-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon11:c.1391-1G>A;ENST00000513432:exon8:c.1057-1G>A;ENST00000430049:exon2:c.176-1G>A;ENST00000511820:exon2:c.217-1G>A;ENST00000510237:exon2:c.191-1G>A)	.	.	0.99996509239462	0.952
18	13030463	G	C	18	13030464	y	y	splicing	CEP192(NM_032142:exon11:c.1391-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon11:c.1391-1G>C;ENST00000513432:exon8:c.1057-1G>C;ENST00000430049:exon2:c.176-1G>C;ENST00000511820:exon2:c.217-1G>C;ENST00000510237:exon2:c.191-1G>C)	.	.	0.999965414246739	0.954
18	13030463	G	T	18	13030464	y	y	splicing	CEP192(NM_032142:exon11:c.1391-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon11:c.1391-1G>T;ENST00000513432:exon8:c.1057-1G>T;ENST00000430049:exon2:c.176-1G>T;ENST00000511820:exon2:c.217-1G>T;ENST00000510237:exon2:c.191-1G>T)	.	.	0.999965414246739	0.942
18	13030464	A	C	18	13030465	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.A1391C:p.K464T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.A191C:p.K64T;ENSG00000101639:ENST00000506447:exon11:c.A1391C:p.K464T;ENSG00000101639:ENST00000430049:exon2:c.A176C:p.K59T;	0.0180345853855632	0.194
18	13030464	A	G	18	13030465	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.A1391G:p.K464R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.A191G:p.K64R;ENSG00000101639:ENST00000506447:exon11:c.A1391G:p.K464R;ENSG00000101639:ENST00000430049:exon2:c.A176G:p.K59R;	0.00430589706102537	0.048
18	13030464	A	T	18	13030465	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.A1391T:p.K464I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.A191T:p.K64I;ENSG00000101639:ENST00000506447:exon11:c.A1391T:p.K464I;ENSG00000101639:ENST00000430049:exon2:c.A176T:p.K59I;	0.0215421999414274	0.166
18	13030465	A	C	18	13030466	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.A1392C:p.K464N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.A192C:p.K64N;ENSG00000101639:ENST00000506447:exon11:c.A1392C:p.K464N;ENSG00000101639:ENST00000430049:exon2:c.A177C:p.K59N;	7.83493484593007E-4	0.014
18	13030465	A	G	18	13030466	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon11:c.A1392G:p.K464K;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.A192G:p.K64K;ENSG00000101639:ENST00000506447:exon11:c.A1392G:p.K464K;ENSG00000101639:ENST00000430049:exon2:c.A177G:p.K59K;	1.94386620204797E-4	0.014
18	13030465	A	T	18	13030466	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.A1392T:p.K464N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.A192T:p.K64N;ENSG00000101639:ENST00000506447:exon11:c.A1392T:p.K464N;ENSG00000101639:ENST00000430049:exon2:c.A177T:p.K59N;	4.48147635533138E-4	0.006
18	13030605	G	A	18	13030606	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.G1532A:p.G511D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.G332A:p.G111D;ENSG00000101639:ENST00000325971:exon11:c.G19A:p.V7I;ENSG00000101639:ENST00000506447:exon11:c.G1532A:p.G511D;ENSG00000101639:ENST00000430049:exon2:c.G317A:p.G106D;	0.919229999635787	0.804
18	13030605	G	C	18	13030606	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.G1532C:p.G511A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.G332C:p.G111A;ENSG00000101639:ENST00000325971:exon11:c.G19C:p.V7L;ENSG00000101639:ENST00000506447:exon11:c.G1532C:p.G511A;ENSG00000101639:ENST00000430049:exon2:c.G317C:p.G106A;	0.927022238343304	0.778
18	13030605	G	T	18	13030606	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.G1532T:p.G511V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.G332T:p.G111V;ENSG00000101639:ENST00000325971:exon11:c.G19T:p.V7F;ENSG00000101639:ENST00000506447:exon11:c.G1532T:p.G511V;ENSG00000101639:ENST00000430049:exon2:c.G317T:p.G106V;	0.966888169690142	0.82
18	13030606	T	A	18	13030607	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon11:c.T1533A:p.G511G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon11:c.T20A:p.V7D;	0.00120771653770744	0.154
18	13030606	T	C	18	13030607	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon11:c.T1533C:p.G511G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon11:c.T20C:p.V7A;	1.8448807861167E-4	0.054
18	13030606	T	G	18	13030607	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon11:c.T1533G:p.G511G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon11:c.T20G:p.V7G;	0.00613185750004931	0.068
18	13030607	T	A	18	13030608	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.T1534A:p.S512T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.T334A:p.S112T;ENSG00000101639:ENST00000506447:exon11:c.T1534A:p.S512T;ENSG00000101639:ENST00000430049:exon2:c.T319A:p.S107T;	0.039413599223345	0.35
18	13030607	T	C	18	13030608	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.T1534C:p.S512P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.T334C:p.S112P;ENSG00000101639:ENST00000506447:exon11:c.T1534C:p.S512P;ENSG00000101639:ENST00000430049:exon2:c.T319C:p.S107P;	0.957320741953281	0.85
18	13030607	T	G	18	13030608	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon11:c.T1534G:p.S512A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon2:c.T334G:p.S112A;ENSG00000101639:ENST00000506447:exon11:c.T1534G:p.S512A;ENSG00000101639:ENST00000430049:exon2:c.T319G:p.S107A;	0.474288166116218	0.326
18	13030608	G	A	18	13030609	y	y	splicing	CEP192(NM_032142:exon11:c.1534+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon11:c.21+1G>A;ENST00000506447:exon11:c.1534+1G>A;ENST00000513432:exon8:c.1200+1G>A;ENST00000430049:exon2:c.319+1G>A;ENST00000511820:exon2:c.360+1G>A;ENST00000510237:exon2:c.334+1G>A)	.	.	0.999986675681007	0.93
18	13030608	G	C	18	13030609	y	y	splicing	CEP192(NM_032142:exon11:c.1534+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon11:c.21+1G>C;ENST00000506447:exon11:c.1534+1G>C;ENST00000513432:exon8:c.1200+1G>C;ENST00000430049:exon2:c.319+1G>C;ENST00000511820:exon2:c.360+1G>C;ENST00000510237:exon2:c.334+1G>C)	.	.	0.999986675681007	0.93
18	13030608	G	T	18	13030609	y	y	splicing	CEP192(NM_032142:exon11:c.1534+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon11:c.21+1G>T;ENST00000506447:exon11:c.1534+1G>T;ENST00000513432:exon8:c.1200+1G>T;ENST00000430049:exon2:c.319+1G>T;ENST00000511820:exon2:c.360+1G>T;ENST00000510237:exon2:c.334+1G>T)	.	.	0.999986675681007	0.93
18	13030609	T	A	18	13030610	y	y	splicing	CEP192(NM_032142:exon11:c.1534+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon11:c.21+2T>A;ENST00000506447:exon11:c.1534+2T>A;ENST00000513432:exon8:c.1200+2T>A;ENST00000430049:exon2:c.319+2T>A;ENST00000511820:exon2:c.360+2T>A;ENST00000510237:exon2:c.334+2T>A)	.	.	0.999988247793601	0.926
18	13030609	T	C	18	13030610	y	y	splicing	CEP192(NM_032142:exon11:c.1534+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon11:c.21+2T>C;ENST00000506447:exon11:c.1534+2T>C;ENST00000513432:exon8:c.1200+2T>C;ENST00000430049:exon2:c.319+2T>C;ENST00000511820:exon2:c.360+2T>C;ENST00000510237:exon2:c.334+2T>C)	.	.	0.986973409415639	0.618
18	13030609	T	G	18	13030610	y	y	splicing	CEP192(NM_032142:exon11:c.1534+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon11:c.21+2T>G;ENST00000506447:exon11:c.1534+2T>G;ENST00000513432:exon8:c.1200+2T>G;ENST00000430049:exon2:c.319+2T>G;ENST00000511820:exon2:c.360+2T>G;ENST00000510237:exon2:c.334+2T>G)	.	.	0.999988247793601	0.924
18	13030610	A	C	18	13030611	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999743510438657	0.896
18	13030610	A	G	18	13030611	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0736681952159885	0.332
18	13030610	A	T	18	13030611	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999795083919392	0.916
18	13030611	A	C	18	13030612	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996206139218438	0.91
18	13030611	A	G	18	13030612	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998940315297855	0.922
18	13030611	A	T	18	13030612	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994186204364315	0.874
18	13030612	G	A	18	13030613	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999962261421717	0.984
18	13030612	G	C	18	13030613	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999973825325258	0.926
18	13030612	G	T	18	13030613	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999950749885653	0.986
18	13030613	T	A	18	13030614	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.993970225061288	0.814
18	13030613	T	C	18	13030614	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996568219156974	0.966
18	13030613	T	G	18	13030614	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.993474031553364	0.94
18	13030614	A	C	18	13030615	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.97143642491472E-4	0.012
18	13030614	A	G	18	13030615	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.47315225525858E-4	0.002
18	13030614	A	T	18	13030615	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.63274751867518E-5	0.0
18	13030615	T	A	18	13030616	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.64166015648132E-4	0.058
18	13030615	T	C	18	13030616	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00159353457655087	0.114
18	13030615	T	G	18	13030616	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.00157306748348E-4	0.078
18	13037224	T	A	18	13037225	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00203573603580342	0.184
18	13037224	T	C	18	13037225	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0014132710393534	0.048
18	13037224	T	G	18	13037225	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99845221358686	0.972
18	13037225	T	A	18	13037226	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00169337844853728	0.266
18	13037225	T	C	18	13037226	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.6922094744264E-4	0.062
18	13037225	T	G	18	13037226	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00160132381321103	0.236
18	13037226	C	A	18	13037227	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.56489838856007E-4	0.064
18	13037226	C	G	18	13037227	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.15927128135637E-4	0.054
18	13037226	C	T	18	13037227	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.52324457079725E-5	0.016
18	13037227	T	A	18	13037228	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.97610346777372E-4	0.096
18	13037227	T	C	18	13037228	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.01288875741462E-4	0.026
18	13037227	T	G	18	13037228	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.19294468761713E-4	0.096
18	13037228	T	A	18	13037229	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00275628687058315	0.104
18	13037228	T	C	18	13037229	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.27058330319542E-5	0.028
18	13037228	T	G	18	13037229	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00202500719511415	0.188
18	13037229	T	A	18	13037230	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.010065076138103	0.098
18	13037229	T	C	18	13037230	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.93205844401115E-4	0.048
18	13037229	T	G	18	13037230	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0070417241224474	0.11
18	13037230	T	A	18	13037231	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0706349913105525	0.152
18	13037230	T	C	18	13037231	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.99957067442494E-4	0.036
18	13037230	T	G	18	13037231	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.085757618275355	0.19
18	13037231	T	A	18	13037232	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.965252970274557	0.612
18	13037231	T	C	18	13037232	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.53111408644143	0.36
18	13037231	T	G	18	13037232	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.913255221989845	0.604
18	13037232	T	A	18	13037233	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.34002504775641E-4	0.038
18	13037232	T	C	18	13037233	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.48605184670998E-4	0.062
18	13037232	T	G	18	13037233	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0033072107808942	0.104
18	13037233	A	C	18	13037234	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.55227817024494E-5	0.008
18	13037233	A	G	18	13037234	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.219074755670506	0.244
18	13037233	A	T	18	13037234	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.15249300702139E-5	0.006
18	13037234	A	C	18	13037235	y	y	splicing	CEP192(NM_032142:exon12:c.1535-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1535-2A>C;ENST00000430049:exon3:c.320-2A>C;ENST00000511820:exon3:c.361-2A>C;ENST00000510237:exon3:c.335-2A>C)	.	.	0.999979394981131	0.916
18	13037234	A	G	18	13037235	y	y	splicing	CEP192(NM_032142:exon12:c.1535-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1535-2A>G;ENST00000430049:exon3:c.320-2A>G;ENST00000511820:exon3:c.361-2A>G;ENST00000510237:exon3:c.335-2A>G)	.	.	0.999979394981131	0.914
18	13037234	A	T	18	13037235	y	y	splicing	CEP192(NM_032142:exon12:c.1535-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1535-2A>T;ENST00000430049:exon3:c.320-2A>T;ENST00000511820:exon3:c.361-2A>T;ENST00000510237:exon3:c.335-2A>T)	.	.	0.999979394981131	0.916
18	13037235	G	A	18	13037236	y	y	splicing	CEP192(NM_032142:exon12:c.1535-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1535-1G>A;ENST00000430049:exon3:c.320-1G>A;ENST00000511820:exon3:c.361-1G>A;ENST00000510237:exon3:c.335-1G>A)	.	.	0.999982627682474	0.912
18	13037235	G	C	18	13037236	y	y	splicing	CEP192(NM_032142:exon12:c.1535-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1535-1G>C;ENST00000430049:exon3:c.320-1G>C;ENST00000511820:exon3:c.361-1G>C;ENST00000510237:exon3:c.335-1G>C)	.	.	0.999982627682474	0.912
18	13037235	G	T	18	13037236	y	y	splicing	CEP192(NM_032142:exon12:c.1535-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1535-1G>T;ENST00000430049:exon3:c.320-1G>T;ENST00000511820:exon3:c.361-1G>T;ENST00000510237:exon3:c.335-1G>T)	.	.	0.999982627682474	0.912
18	13037236	C	A	18	13037237	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.C1535A:p.S512Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.C335A:p.S112Y;ENSG00000101639:ENST00000506447:exon12:c.C1535A:p.S512Y;ENSG00000101639:ENST00000430049:exon3:c.C320A:p.S107Y;	0.978151613955757	0.854
18	13037236	C	G	18	13037237	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.C1535G:p.S512C;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.C335G:p.S112C;ENSG00000101639:ENST00000506447:exon12:c.C1535G:p.S512C;ENSG00000101639:ENST00000430049:exon3:c.C320G:p.S107C;	0.981531370029652	0.756
18	13037236	C	T	18	13037237	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.C1535T:p.S512F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.C335T:p.S112F;ENSG00000101639:ENST00000506447:exon12:c.C1535T:p.S512F;ENSG00000101639:ENST00000430049:exon3:c.C320T:p.S107F;	0.995634746836814	0.902
18	13037237	T	A	18	13037238	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon12:c.T1536A:p.S512S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.T336A:p.S112S;ENSG00000101639:ENST00000506447:exon12:c.T1536A:p.S512S;ENSG00000101639:ENST00000430049:exon3:c.T321A:p.S107S;	0.037757882965611	0.244
18	13037237	T	C	18	13037238	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon12:c.T1536C:p.S512S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.T336C:p.S112S;ENSG00000101639:ENST00000506447:exon12:c.T1536C:p.S512S;ENSG00000101639:ENST00000430049:exon3:c.T321C:p.S107S;	0.0229216968285334	0.252
18	13037237	T	G	18	13037238	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon12:c.T1536G:p.S512S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.T336G:p.S112S;ENSG00000101639:ENST00000506447:exon12:c.T1536G:p.S512S;ENSG00000101639:ENST00000430049:exon3:c.T321G:p.S107S;	0.0152511208912763	0.132
18	13037298	C	A	18	13037299	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.C1597A:p.Q533K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.C397A:p.Q133K;ENSG00000101639:ENST00000506447:exon12:c.C1597A:p.Q533K;ENSG00000101639:ENST00000430049:exon3:c.C382A:p.Q128K;	0.926216910796867	0.81
18	13037298	C	G	18	13037299	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.C1597G:p.Q533E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.C397G:p.Q133E;ENSG00000101639:ENST00000506447:exon12:c.C1597G:p.Q533E;ENSG00000101639:ENST00000430049:exon3:c.C382G:p.Q128E;	0.921951789512136	0.68
18	13037298	C	T	18	13037299	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon12:c.C1597T:p.Q533X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon3:c.C397T:p.Q133X;ENSG00000101639:ENST00000506447:exon12:c.C1597T:p.Q533X;ENSG00000101639:ENST00000430049:exon3:c.C382T:p.Q128X;	0.999870014450039	0.974
18	13037299	A	C	18	13037300	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.A1598C:p.Q533P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.A398C:p.Q133P;ENSG00000101639:ENST00000506447:exon12:c.A1598C:p.Q533P;ENSG00000101639:ENST00000430049:exon3:c.A383C:p.Q128P;	0.999941482000685	1.0
18	13037299	A	G	18	13037300	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.A1598G:p.Q533R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.A398G:p.Q133R;ENSG00000101639:ENST00000506447:exon12:c.A1598G:p.Q533R;ENSG00000101639:ENST00000430049:exon3:c.A383G:p.Q128R;	0.999950305351822	0.97
18	13037299	A	T	18	13037300	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.A1598T:p.Q533L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.A398T:p.Q133L;ENSG00000101639:ENST00000506447:exon12:c.A1598T:p.Q533L;ENSG00000101639:ENST00000430049:exon3:c.A383T:p.Q128L;	0.999909915161114	0.998
18	13037300	G	A	18	13037301	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon12:c.G1599A:p.Q533Q;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.G399A:p.Q133Q;ENSG00000101639:ENST00000506447:exon12:c.G1599A:p.Q533Q;ENSG00000101639:ENST00000430049:exon3:c.G384A:p.Q128Q;	0.999976065368382	1.0
18	13037300	G	C	18	13037301	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.G1599C:p.Q533H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.G399C:p.Q133H;ENSG00000101639:ENST00000506447:exon12:c.G1599C:p.Q533H;ENSG00000101639:ENST00000430049:exon3:c.G384C:p.Q128H;	0.999997610789446	1.0
18	13037300	G	T	18	13037301	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon12:c.G1599T:p.Q533H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon3:c.G399T:p.Q133H;ENSG00000101639:ENST00000506447:exon12:c.G1599T:p.Q533H;ENSG00000101639:ENST00000430049:exon3:c.G384T:p.Q128H;	0.999993018555097	0.996
18	13037301	G	A	18	13037302	y	y	splicing	CEP192(NM_032142:exon12:c.1599+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1599+1G>A;ENST00000430049:exon3:c.384+1G>A;ENST00000511820:exon3:c.425+1G>A;ENST00000510237:exon3:c.399+1G>A)	.	.	0.999990361384395	0.932
18	13037301	G	C	18	13037302	y	y	splicing	CEP192(NM_032142:exon12:c.1599+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1599+1G>C;ENST00000430049:exon3:c.384+1G>C;ENST00000511820:exon3:c.425+1G>C;ENST00000510237:exon3:c.399+1G>C)	.	.	0.999990361384395	0.93
18	13037301	G	T	18	13037302	y	y	splicing	CEP192(NM_032142:exon12:c.1599+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1599+1G>T;ENST00000430049:exon3:c.384+1G>T;ENST00000511820:exon3:c.425+1G>T;ENST00000510237:exon3:c.399+1G>T)	.	.	0.999990361384395	0.932
18	13037302	T	A	18	13037303	y	y	splicing	CEP192(NM_032142:exon12:c.1599+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1599+2T>A;ENST00000430049:exon3:c.384+2T>A;ENST00000511820:exon3:c.425+2T>A;ENST00000510237:exon3:c.399+2T>A)	.	.	0.999988247793601	0.924
18	13037302	T	C	18	13037303	y	y	splicing	CEP192(NM_032142:exon12:c.1599+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1599+2T>C;ENST00000430049:exon3:c.384+2T>C;ENST00000511820:exon3:c.425+2T>C;ENST00000510237:exon3:c.399+2T>C)	.	.	0.996388929962285	0.696
18	13037302	T	G	18	13037303	y	y	splicing	CEP192(NM_032142:exon12:c.1599+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon12:c.1599+2T>G;ENST00000430049:exon3:c.384+2T>G;ENST00000511820:exon3:c.425+2T>G;ENST00000510237:exon3:c.399+2T>G)	.	.	0.999988247793601	0.922
18	13037303	T	A	18	13037304	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.66555842221068E-4	0.088
18	13037303	T	C	18	13037304	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00657180246859588	0.142
18	13037303	T	G	18	13037304	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.63331744175733E-4	0.052
18	13037304	T	A	18	13037305	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.81073564863737E-4	0.048
18	13037304	T	C	18	13037305	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0496300459343037	0.184
18	13037304	T	G	18	13037305	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.82806348524292E-4	0.062
18	13037305	G	A	18	13037306	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999991613698114	0.994
18	13037305	G	C	18	13037306	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999983952707761	0.994
18	13037305	G	T	18	13037306	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999967105545157	0.96
18	13037306	T	A	18	13037307	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0736279319158258	0.332
18	13037306	T	C	18	13037307	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.519642484243371	0.398
18	13037306	T	G	18	13037307	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0101406274421289	0.288
18	13037307	A	C	18	13037308	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.62781247235122E-4	0.004
18	13037307	A	G	18	13037308	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.79224178036382E-4	0.032
18	13037307	A	T	18	13037308	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.83907278441599E-4	0.128
18	13037308	A	C	18	13037309	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00412468449731059	0.026
18	13037308	A	G	18	13037309	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00274297773858205	0.022
18	13037308	A	T	18	13037309	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00324202664366108	0.012
18	13038357	C	A	18	13038358	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00211632370502579	0.056
18	13038357	C	G	18	13038358	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999576169477535	0.978
18	13038357	C	T	18	13038358	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.72891602026224E-4	0.002
18	13038358	T	A	18	13038359	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.524174824545163	0.526
18	13038358	T	C	18	13038359	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0510715812654647	0.26
18	13038358	T	G	18	13038359	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.769891926794491	0.552
18	13038359	T	A	18	13038360	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0689191647828157	0.42
18	13038359	T	C	18	13038360	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.69783427404348E-4	0.04
18	13038359	T	G	18	13038360	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0940951711669605	0.424
18	13038360	T	A	18	13038361	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.771785815216573	0.594
18	13038360	T	C	18	13038361	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0497275585680096	0.168
18	13038360	T	G	18	13038361	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.720647190992378	0.55
18	13038361	C	A	18	13038362	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.38069062809258E-4	0.052
18	13038361	C	G	18	13038362	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.12786639209725E-4	0.056
18	13038361	C	T	18	13038362	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.27217654814765E-5	0.022
18	13038362	T	A	18	13038363	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.243998669827366	0.268
18	13038362	T	C	18	13038363	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.51173231458065E-4	0.004
18	13038362	T	G	18	13038363	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0479621112657157	0.21
18	13038363	C	A	18	13038364	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00106027369843289	0.142
18	13038363	C	G	18	13038364	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00223679186524401	0.176
18	13038363	C	T	18	13038364	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.06864465134946E-5	0.062
18	13038364	C	A	18	13038365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.62770517885272E-4	0.012
18	13038364	C	G	18	13038365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00185305995952183	0.052
18	13038364	C	T	18	13038365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95792866086172E-5	0.0
18	13038365	C	A	18	13038366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.09165675333882E-4	0.002
18	13038365	C	G	18	13038366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.9090860846846E-5	0.0
18	13038365	C	T	18	13038366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.56610989843082E-4	0.004
18	13038366	T	A	18	13038367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.104827686905114	0.388
18	13038366	T	C	18	13038367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.37009869575807E-4	0.064
18	13038366	T	G	18	13038367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998967672719725	0.702
18	13038367	A	C	18	13038368	y	y	splicing	CEP192(NM_032142:exon13:c.1600-2A>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1600-2A>C;ENST00000510237:exon4:c.400-2A>C)	.	.	0.999988247793601	0.926
18	13038367	A	G	18	13038368	y	y	splicing	CEP192(NM_032142:exon13:c.1600-2A>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1600-2A>G;ENST00000510237:exon4:c.400-2A>G)	.	.	0.999988247793601	0.926
18	13038367	A	T	18	13038368	y	y	splicing	CEP192(NM_032142:exon13:c.1600-2A>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1600-2A>T;ENST00000510237:exon4:c.400-2A>T)	.	.	0.999988247793601	0.926
18	13038368	G	A	18	13038369	y	y	splicing	CEP192(NM_032142:exon13:c.1600-1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1600-1G>A;ENST00000510237:exon4:c.400-1G>A)	.	.	0.999986675681007	0.93
18	13038368	G	C	18	13038369	y	y	splicing	CEP192(NM_032142:exon13:c.1600-1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1600-1G>C;ENST00000510237:exon4:c.400-1G>C)	.	.	0.999986675681007	0.93
18	13038368	G	T	18	13038369	y	y	splicing	CEP192(NM_032142:exon13:c.1600-1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1600-1G>T;ENST00000510237:exon4:c.400-1G>T)	.	.	0.999986675681007	0.93
18	13038369	G	A	18	13038370	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.G1600A:p.E534K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.G400A:p.E134K;ENSG00000101639:ENST00000506447:exon13:c.G1600A:p.E534K;	0.999392843741859	0.972
18	13038369	G	C	18	13038370	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.G1600C:p.E534Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.G400C:p.E134Q;ENSG00000101639:ENST00000506447:exon13:c.G1600C:p.E534Q;	0.999785731752384	0.986
18	13038369	G	T	18	13038370	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon13:c.G1600T:p.E534X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon4:c.G400T:p.E134X;ENSG00000101639:ENST00000506447:exon13:c.G1600T:p.E534X;	0.999942064695416	0.994
18	13038370	A	C	18	13038371	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.A1601C:p.E534A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.A401C:p.E134A;ENSG00000101639:ENST00000506447:exon13:c.A1601C:p.E534A;	0.0718594401839768	0.19
18	13038370	A	G	18	13038371	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.A1601G:p.E534G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.A401G:p.E134G;ENSG00000101639:ENST00000506447:exon13:c.A1601G:p.E534G;	0.0642454419464316	0.238
18	13038370	A	T	18	13038371	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.A1601T:p.E534V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.A401T:p.E134V;ENSG00000101639:ENST00000506447:exon13:c.A1601T:p.E534V;	0.0720046506929883	0.272
18	13038576	A	C	18	13038577	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon13:c.A1807C:p.R603R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.A607C:p.R203R;ENSG00000101639:ENST00000506447:exon13:c.A1807C:p.R603R;ENSG00000101639:ENST00000589596:exon10:c.A1030C:p.R344R;	0.0112860585515329	0.128
18	13038576	A	G	18	13038577	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.A1807G:p.R603G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.A607G:p.R203G;ENSG00000101639:ENST00000506447:exon13:c.A1807G:p.R603G;ENSG00000101639:ENST00000589596:exon10:c.A1030G:p.R344G;	0.165046199318753	0.334
18	13038576	A	T	18	13038577	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon13:c.A1807T:p.R603X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon4:c.A607T:p.R203X;ENSG00000101639:ENST00000506447:exon13:c.A1807T:p.R603X;ENSG00000101639:ENST00000589596:exon10:c.A1030T:p.R344X;	0.886817513852168	0.534
18	13038577	G	A	18	13038578	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.G1808A:p.R603K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.G608A:p.R203K;ENSG00000101639:ENST00000506447:exon13:c.G1808A:p.R603K;ENSG00000101639:ENST00000589596:exon10:c.G1031A:p.R344K;	0.960387068864833	0.636
18	13038577	G	C	18	13038578	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.G1808C:p.R603T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.G608C:p.R203T;ENSG00000101639:ENST00000506447:exon13:c.G1808C:p.R603T;ENSG00000101639:ENST00000589596:exon10:c.G1031C:p.R344T;	0.986361448574815	0.728
18	13038577	G	T	18	13038578	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.G1808T:p.R603I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.G608T:p.R203I;ENSG00000101639:ENST00000506447:exon13:c.G1808T:p.R603I;ENSG00000101639:ENST00000589596:exon10:c.G1031T:p.R344I;	0.989959636304675	0.858
18	13038578	A	C	18	13038579	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.A1809C:p.R603S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.A609C:p.R203S;ENSG00000101639:ENST00000506447:exon13:c.A1809C:p.R603S;ENSG00000101639:ENST00000589596:exon10:c.A1032C:p.R344S;	0.546138022161511	0.676
18	13038578	A	G	18	13038579	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon13:c.A1809G:p.R603R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.A609G:p.R203R;ENSG00000101639:ENST00000506447:exon13:c.A1809G:p.R603R;ENSG00000101639:ENST00000589596:exon10:c.A1032G:p.R344R;	0.00947696324345322	0.15
18	13038578	A	T	18	13038579	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon13:c.A1809T:p.R603S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon4:c.A609T:p.R203S;ENSG00000101639:ENST00000506447:exon13:c.A1809T:p.R603S;ENSG00000101639:ENST00000589596:exon10:c.A1032T:p.R344S;	0.666264967668823	0.512
18	13038579	G	A	18	13038580	y	y	splicing	CEP192(NM_032142:exon13:c.1809+1G>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1809+1G>A;ENST00000589596:exon10:c.1032+1G>A;ENST00000510237:exon4:c.609+1G>A)	.	.	0.999986675681007	0.926
18	13038579	G	C	18	13038580	y	y	splicing	CEP192(NM_032142:exon13:c.1809+1G>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1809+1G>C;ENST00000589596:exon10:c.1032+1G>C;ENST00000510237:exon4:c.609+1G>C)	.	.	0.999986675681007	0.926
18	13038579	G	T	18	13038580	y	y	splicing	CEP192(NM_032142:exon13:c.1809+1G>T)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1809+1G>T;ENST00000589596:exon10:c.1032+1G>T;ENST00000510237:exon4:c.609+1G>T)	.	.	0.999986675681007	0.926
18	13038580	T	A	18	13038581	y	y	splicing	CEP192(NM_032142:exon13:c.1809+2T>A)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1809+2T>A;ENST00000589596:exon10:c.1032+2T>A;ENST00000510237:exon4:c.609+2T>A)	.	.	0.999988247793601	0.928
18	13038580	T	C	18	13038581	y	y	splicing	CEP192(NM_032142:exon13:c.1809+2T>C)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1809+2T>C;ENST00000589596:exon10:c.1032+2T>C;ENST00000510237:exon4:c.609+2T>C)	.	.	0.99295178357233	0.624
18	13038580	T	G	18	13038581	y	y	splicing	CEP192(NM_032142:exon13:c.1809+2T>G)	.	.	splicing	ENSG00000101639(ENST00000506447:exon13:c.1809+2T>G;ENST00000589596:exon10:c.1032+2T>G;ENST00000510237:exon4:c.609+2T>G)	.	.	0.999988247793601	0.928
18	13038581	A	C	18	13038582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999871477518368	0.91
18	13038581	A	G	18	13038582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.258453185807753	0.364
18	13038581	A	T	18	13038582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999894271425933	0.954
18	13038582	A	C	18	13038583	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.98689099779913	0.742
18	13038582	A	G	18	13038583	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.988262105667103	0.832
18	13038582	A	T	18	13038583	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.988358036966351	0.748
18	13038583	G	A	18	13038584	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999984512554656	0.982
18	13038583	G	C	18	13038584	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99997991108364	0.978
18	13038583	G	T	18	13038584	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999986006945833	0.958
18	13038584	T	A	18	13038585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.982849639817181	0.684
18	13038584	T	C	18	13038585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.947251563403981	0.768
18	13038584	T	G	18	13038585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.993782152137404	0.936
18	13038585	A	C	18	13038586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00514677232716366	0.052
18	13038585	A	G	18	13038586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00514677232716366	0.048
18	13038585	A	T	18	13038586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00689466562018641	0.03
18	13038586	T	A	18	13038587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.21114564130736E-5	0.0
18	13038586	T	C	18	13038587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.17119222840784E-5	0.0
18	13038586	T	G	18	13038587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.21114564130736E-5	0.0
18	13040817	A	C	18	13040818	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.26888501366282E-4	0.002
18	13040817	A	G	18	13040818	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997460969873202	0.972
18	13040817	A	T	18	13040818	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.21989762914039E-4	0.02
18	13040818	T	A	18	13040819	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998971420721308	0.896
18	13040818	T	C	18	13040819	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.971130500292537	0.554
18	13040818	T	G	18	13040819	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99993796596454	0.986
18	13040819	T	A	18	13040820	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999077709720323	0.852
18	13040819	T	C	18	13040820	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.943423375884033	0.422
18	13040819	T	G	18	13040820	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998921944359806	0.858
18	13040820	A	C	18	13040821	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.08776106407067E-5	0.0
18	13040820	A	G	18	13040821	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.14459816047013E-4	0.004
18	13040820	A	T	18	13040821	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.51233415134553E-5	0.028
18	13040821	T	A	18	13040822	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.113744608984264	0.326
18	13040821	T	C	18	13040822	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.50821843191866E-4	0.072
18	13040821	T	G	18	13040822	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999919785767614	0.982
18	13040822	T	A	18	13040823	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.127921013736231	0.276
18	13040822	T	C	18	13040823	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.70988202638992E-4	0.122
18	13040822	T	G	18	13040823	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.235508503020124	0.27
18	13040823	T	A	18	13040824	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.992587326470555	0.702
18	13040823	T	C	18	13040824	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0118053730007109	0.176
18	13040823	T	G	18	13040824	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.961859366212662	0.612
18	13040824	T	A	18	13040825	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999958443306245	0.972
18	13040824	T	C	18	13040825	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.225040944877089	0.238
18	13040824	T	G	18	13040825	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997028681715658	0.758
18	13040825	G	A	18	13040826	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0102749979227459	0.058
18	13040825	G	C	18	13040826	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00584658029860041	0.044
18	13040825	G	T	18	13040826	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00696655054348953	0.066
18	13040826	T	A	18	13040827	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.164858204447283	0.32
18	13040826	T	C	18	13040827	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00135814767308575	0.032
18	13040826	T	G	18	13040827	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999245956785197	0.8
18	13040827	A	C	18	13040828	y	y	splicing	CEP192(NM_032142:exon14:c.1810-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.22-2A>C;ENST00000506447:exon14:c.1810-2A>C;ENST00000589596:exon11:c.1033-2A>C;ENST00000513432:exon9:c.1201-2A>C;ENST00000430049:exon4:c.385-2A>C;ENST00000511820:exon4:c.426-2A>C;ENST00000510237:exon5:c.610-2A>C)	.	.	0.999992446697775	0.932
18	13040827	A	G	18	13040828	y	y	splicing	CEP192(NM_032142:exon14:c.1810-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.22-2A>G;ENST00000506447:exon14:c.1810-2A>G;ENST00000589596:exon11:c.1033-2A>G;ENST00000513432:exon9:c.1201-2A>G;ENST00000430049:exon4:c.385-2A>G;ENST00000511820:exon4:c.426-2A>G;ENST00000510237:exon5:c.610-2A>G)	.	.	0.999992446697775	0.932
18	13040827	A	T	18	13040828	y	y	splicing	CEP192(NM_032142:exon14:c.1810-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.22-2A>T;ENST00000506447:exon14:c.1810-2A>T;ENST00000589596:exon11:c.1033-2A>T;ENST00000513432:exon9:c.1201-2A>T;ENST00000430049:exon4:c.385-2A>T;ENST00000511820:exon4:c.426-2A>T;ENST00000510237:exon5:c.610-2A>T)	.	.	0.999992446697775	0.946
18	13040828	G	A	18	13040829	y	y	splicing	CEP192(NM_032142:exon14:c.1810-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.22-1G>A;ENST00000506447:exon14:c.1810-1G>A;ENST00000589596:exon11:c.1033-1G>A;ENST00000513432:exon9:c.1201-1G>A;ENST00000430049:exon4:c.385-1G>A;ENST00000511820:exon4:c.426-1G>A;ENST00000510237:exon5:c.610-1G>A)	.	.	0.999990361384395	0.942
18	13040828	G	C	18	13040829	y	y	splicing	CEP192(NM_032142:exon14:c.1810-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.22-1G>C;ENST00000506447:exon14:c.1810-1G>C;ENST00000589596:exon11:c.1033-1G>C;ENST00000513432:exon9:c.1201-1G>C;ENST00000430049:exon4:c.385-1G>C;ENST00000511820:exon4:c.426-1G>C;ENST00000510237:exon5:c.610-1G>C)	.	.	0.999990361384395	0.942
18	13040828	G	T	18	13040829	y	y	splicing	CEP192(NM_032142:exon14:c.1810-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.22-1G>T;ENST00000506447:exon14:c.1810-1G>T;ENST00000589596:exon11:c.1033-1G>T;ENST00000513432:exon9:c.1201-1G>T;ENST00000430049:exon4:c.385-1G>T;ENST00000511820:exon4:c.426-1G>T;ENST00000510237:exon5:c.610-1G>T)	.	.	0.999990361384395	0.942
18	13040829	C	A	18	13040830	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.C1810A:p.P604T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.C610A:p.P204T;ENSG00000101639:ENST00000325971:exon12:c.C22A:p.P8T;ENSG00000101639:ENST00000506447:exon14:c.C1810A:p.P604T;ENSG00000101639:ENST00000589596:exon11:c.C1033A:p.P345T;ENSG00000101639:ENST00000430049:exon4:c.C385A:p.P129T;	0.952318237804825	0.674
18	13040829	C	G	18	13040830	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.C1810G:p.P604A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.C610G:p.P204A;ENSG00000101639:ENST00000325971:exon12:c.C22G:p.P8A;ENSG00000101639:ENST00000506447:exon14:c.C1810G:p.P604A;ENSG00000101639:ENST00000589596:exon11:c.C1033G:p.P345A;ENSG00000101639:ENST00000430049:exon4:c.C385G:p.P129A;	0.954821537794888	0.598
18	13040829	C	T	18	13040830	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.C1810T:p.P604S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.C610T:p.P204S;ENSG00000101639:ENST00000325971:exon12:c.C22T:p.P8S;ENSG00000101639:ENST00000506447:exon14:c.C1810T:p.P604S;ENSG00000101639:ENST00000589596:exon11:c.C1033T:p.P345S;ENSG00000101639:ENST00000430049:exon4:c.C385T:p.P129S;	0.994227416673599	0.834
18	13040830	C	A	18	13040831	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.C1811A:p.P604Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.C611A:p.P204Q;ENSG00000101639:ENST00000325971:exon12:c.C23A:p.P8Q;ENSG00000101639:ENST00000506447:exon14:c.C1811A:p.P604Q;ENSG00000101639:ENST00000589596:exon11:c.C1034A:p.P345Q;ENSG00000101639:ENST00000430049:exon4:c.C386A:p.P129Q;	0.988977498222997	0.676
18	13040830	C	G	18	13040831	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.C1811G:p.P604R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.C611G:p.P204R;ENSG00000101639:ENST00000325971:exon12:c.C23G:p.P8R;ENSG00000101639:ENST00000506447:exon14:c.C1811G:p.P604R;ENSG00000101639:ENST00000589596:exon11:c.C1034G:p.P345R;ENSG00000101639:ENST00000430049:exon4:c.C386G:p.P129R;	0.969161174490079	0.582
18	13040830	C	T	18	13040831	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.C1811T:p.P604L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.C611T:p.P204L;ENSG00000101639:ENST00000325971:exon12:c.C23T:p.P8L;ENSG00000101639:ENST00000506447:exon14:c.C1811T:p.P604L;ENSG00000101639:ENST00000589596:exon11:c.C1034T:p.P345L;ENSG00000101639:ENST00000430049:exon4:c.C386T:p.P129L;	0.971026853628141	0.734
18	13040953	C	A	18	13040954	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon14:c.C1934A:p.S645X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon5:c.C734A:p.S245X;ENSG00000101639:ENST00000325971:exon12:c.C146A:p.S49X;ENSG00000101639:ENST00000506447:exon14:c.C1934A:p.S645X;ENSG00000101639:ENST00000589596:exon11:c.C1157A:p.S386X;ENSG00000101639:ENST00000430049:exon4:c.C509A:p.S170X;	0.817723185036556	0.586
18	13040953	C	G	18	13040954	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon14:c.C1934G:p.S645X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon5:c.C734G:p.S245X;ENSG00000101639:ENST00000325971:exon12:c.C146G:p.S49X;ENSG00000101639:ENST00000506447:exon14:c.C1934G:p.S645X;ENSG00000101639:ENST00000589596:exon11:c.C1157G:p.S386X;ENSG00000101639:ENST00000430049:exon4:c.C509G:p.S170X;	0.829553610596116	0.548
18	13040953	C	T	18	13040954	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.C1934T:p.S645L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.C734T:p.S245L;ENSG00000101639:ENST00000325971:exon12:c.C146T:p.S49L;ENSG00000101639:ENST00000506447:exon14:c.C1934T:p.S645L;ENSG00000101639:ENST00000589596:exon11:c.C1157T:p.S386L;ENSG00000101639:ENST00000430049:exon4:c.C509T:p.S170L;	0.897505762912282	0.728
18	13040954	A	C	18	13040955	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon14:c.A1935C:p.S645S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.A735C:p.S245S;ENSG00000101639:ENST00000325971:exon12:c.A147C:p.S49S;ENSG00000101639:ENST00000506447:exon14:c.A1935C:p.S645S;ENSG00000101639:ENST00000589596:exon11:c.A1158C:p.S386S;ENSG00000101639:ENST00000430049:exon4:c.A510C:p.S170S;	0.876027916994233	0.65
18	13040954	A	G	18	13040955	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon14:c.A1935G:p.S645S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.A735G:p.S245S;ENSG00000101639:ENST00000325971:exon12:c.A147G:p.S49S;ENSG00000101639:ENST00000506447:exon14:c.A1935G:p.S645S;ENSG00000101639:ENST00000589596:exon11:c.A1158G:p.S386S;ENSG00000101639:ENST00000430049:exon4:c.A510G:p.S170S;	0.945153672199357	0.594
18	13040954	A	T	18	13040955	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon14:c.A1935T:p.S645S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.A735T:p.S245S;ENSG00000101639:ENST00000325971:exon12:c.A147T:p.S49S;ENSG00000101639:ENST00000506447:exon14:c.A1935T:p.S645S;ENSG00000101639:ENST00000589596:exon11:c.A1158T:p.S386S;ENSG00000101639:ENST00000430049:exon4:c.A510T:p.S170S;	0.990480286873714	0.708
18	13040955	G	A	18	13040956	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.G1936A:p.G646R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.G736A:p.G246R;ENSG00000101639:ENST00000325971:exon12:c.G148A:p.G50R;ENSG00000101639:ENST00000506447:exon14:c.G1936A:p.G646R;ENSG00000101639:ENST00000589596:exon11:c.G1159A:p.G387R;ENSG00000101639:ENST00000430049:exon4:c.G511A:p.G171R;	0.999975509242399	1.0
18	13040955	G	C	18	13040956	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon14:c.G1936C:p.G646R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon5:c.G736C:p.G246R;ENSG00000101639:ENST00000325971:exon12:c.G148C:p.G50R;ENSG00000101639:ENST00000506447:exon14:c.G1936C:p.G646R;ENSG00000101639:ENST00000589596:exon11:c.G1159C:p.G387R;ENSG00000101639:ENST00000430049:exon4:c.G511C:p.G171R;	0.999991680548007	0.998
18	13040955	G	T	18	13040956	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon14:c.G1936T:p.G646X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon5:c.G736T:p.G246X;ENSG00000101639:ENST00000325971:exon12:c.G148T:p.G50X;ENSG00000101639:ENST00000506447:exon14:c.G1936T:p.G646X;ENSG00000101639:ENST00000589596:exon11:c.G1159T:p.G387X;ENSG00000101639:ENST00000430049:exon4:c.G511T:p.G171X;	0.999991926426842	0.984
18	13040956	G	A	18	13040957	y	y	splicing	CEP192(NM_032142:exon14:c.1936+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.148+1G>A;ENST00000506447:exon14:c.1936+1G>A;ENST00000589596:exon11:c.1159+1G>A;ENST00000513432:exon9:c.1327+1G>A;ENST00000430049:exon4:c.511+1G>A;ENST00000511820:exon4:c.552+1G>A;ENST00000510237:exon5:c.736+1G>A)	.	.	0.999962958601995	0.814
18	13040956	G	C	18	13040957	y	y	splicing	CEP192(NM_032142:exon14:c.1936+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.148+1G>C;ENST00000506447:exon14:c.1936+1G>C;ENST00000589596:exon11:c.1159+1G>C;ENST00000513432:exon9:c.1327+1G>C;ENST00000430049:exon4:c.511+1G>C;ENST00000511820:exon4:c.552+1G>C;ENST00000510237:exon5:c.736+1G>C)	.	.	0.999980255680118	0.788
18	13040956	G	T	18	13040957	y	y	splicing	CEP192(NM_032142:exon14:c.1936+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.148+1G>T;ENST00000506447:exon14:c.1936+1G>T;ENST00000589596:exon11:c.1159+1G>T;ENST00000513432:exon9:c.1327+1G>T;ENST00000430049:exon4:c.511+1G>T;ENST00000511820:exon4:c.552+1G>T;ENST00000510237:exon5:c.736+1G>T)	.	.	0.999962958601995	0.806
18	13040957	T	A	18	13040958	y	y	splicing	CEP192(NM_032142:exon14:c.1936+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.148+2T>A;ENST00000506447:exon14:c.1936+2T>A;ENST00000589596:exon11:c.1159+2T>A;ENST00000513432:exon9:c.1327+2T>A;ENST00000430049:exon4:c.511+2T>A;ENST00000511820:exon4:c.552+2T>A;ENST00000510237:exon5:c.736+2T>A)	.	.	0.999980516178445	0.824
18	13040957	T	C	18	13040958	y	y	splicing	CEP192(NM_032142:exon14:c.1936+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.148+2T>C;ENST00000506447:exon14:c.1936+2T>C;ENST00000589596:exon11:c.1159+2T>C;ENST00000513432:exon9:c.1327+2T>C;ENST00000430049:exon4:c.511+2T>C;ENST00000511820:exon4:c.552+2T>C;ENST00000510237:exon5:c.736+2T>C)	.	.	0.938001935667096	0.526
18	13040957	T	G	18	13040958	y	y	splicing	CEP192(NM_032142:exon14:c.1936+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon12:c.148+2T>G;ENST00000506447:exon14:c.1936+2T>G;ENST00000589596:exon11:c.1159+2T>G;ENST00000513432:exon9:c.1327+2T>G;ENST00000430049:exon4:c.511+2T>G;ENST00000511820:exon4:c.552+2T>G;ENST00000510237:exon5:c.736+2T>G)	.	.	0.999980516178445	0.796
18	13040958	A	C	18	13040959	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999677773020743	0.826
18	13040958	A	G	18	13040959	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.97097809271856	0.462
18	13040958	A	T	18	13040959	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999794770433684	0.9
18	13040959	A	C	18	13040960	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.013912059768461	0.36
18	13040959	A	G	18	13040960	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.451545504997541	0.54
18	13040959	A	T	18	13040960	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.145578170587198	0.508
18	13040960	T	A	18	13040961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.16636004394322E-5	0.008
18	13040960	T	C	18	13040961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.34999318636917E-6	0.0
18	13040960	T	G	18	13040961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.45946964762049E-5	0.006
18	13040961	G	A	18	13040962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.31142100913068E-5	0.0
18	13040961	G	C	18	13040962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.50093939721387E-4	0.038
18	13040961	G	T	18	13040962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.04524747169471E-5	0.0
18	13040962	G	A	18	13040963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00106627147882891	0.004
18	13040962	G	C	18	13040963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00106627147882891	0.004
18	13040962	G	T	18	13040963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00173480314246143	0.004
18	13040963	A	C	18	13040964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.60999565022406E-4	0.0
18	13040963	A	G	18	13040964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.06340469033229E-4	0.0
18	13040963	A	T	18	13040964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.74257995656902E-4	0.0
18	13042191	T	A	18	13042192	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.112327553313869	0.43
18	13042191	T	C	18	13042192	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00213098803444716	0.1
18	13042191	T	G	18	13042192	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996776495158037	0.954
18	13042192	A	C	18	13042193	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.18092088500623E-5	0.002
18	13042192	A	G	18	13042193	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.80756986175915E-5	0.008
18	13042192	A	T	18	13042193	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.88858756852542E-5	0.056
18	13042193	T	A	18	13042194	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.64119420701393	0.69
18	13042193	T	C	18	13042194	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00200313979223799	0.1
18	13042193	T	G	18	13042194	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999917544472452	0.99
18	13042194	T	A	18	13042195	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.991917967180588	0.836
18	13042194	T	C	18	13042195	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.070375783730438	0.316
18	13042194	T	G	18	13042195	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.984109251500176	0.816
18	13042195	T	A	18	13042196	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0383550387058854	0.28
18	13042195	T	C	18	13042196	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00102187167794922	0.006
18	13042195	T	G	18	13042196	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.010441959256836	0.218
18	13042196	C	A	18	13042197	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.87454295840791E-4	0.064
18	13042196	C	G	18	13042197	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.33531233141599E-4	0.11
18	13042196	C	T	18	13042197	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.19787967172027E-5	0.016
18	13042197	C	A	18	13042198	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00432836727242954	0.256
18	13042197	C	G	18	13042198	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00476372689120305	0.252
18	13042197	C	T	18	13042198	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.40091316373884E-5	0.0
18	13042198	T	A	18	13042199	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997517403401749	0.838
18	13042198	T	C	18	13042199	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.001164451136306	0.158
18	13042198	T	G	18	13042199	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.49917625397779	0.466
18	13042199	G	A	18	13042200	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.55176801435794E-4	0.004
18	13042199	G	C	18	13042200	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.60435512448358E-4	0.0
18	13042199	G	T	18	13042200	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.41101983599224E-4	0.006
18	13042200	C	A	18	13042201	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.953655695846296	0.56
18	13042200	C	G	18	13042201	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998477523191598	0.874
18	13042200	C	T	18	13042201	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00340157648323487	0.07
18	13042201	A	C	18	13042202	y	y	splicing	CEP192(NM_032142:exon15:c.1937-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.149-2A>C;ENST00000506447:exon15:c.1937-2A>C;ENST00000589596:exon12:c.1160-2A>C;ENST00000513432:exon10:c.1328-2A>C;ENST00000430049:exon5:c.512-2A>C;ENST00000511820:exon5:c.553-2A>C;ENST00000510237:exon6:c.737-2A>C)	.	.	0.999989917668626	0.946
18	13042201	A	G	18	13042202	y	y	splicing	CEP192(NM_032142:exon15:c.1937-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.149-2A>G;ENST00000506447:exon15:c.1937-2A>G;ENST00000589596:exon12:c.1160-2A>G;ENST00000513432:exon10:c.1328-2A>G;ENST00000430049:exon5:c.512-2A>G;ENST00000511820:exon5:c.553-2A>G;ENST00000510237:exon6:c.737-2A>G)	.	.	0.999989917668626	0.948
18	13042201	A	T	18	13042202	y	y	splicing	CEP192(NM_032142:exon15:c.1937-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.149-2A>T;ENST00000506447:exon15:c.1937-2A>T;ENST00000589596:exon12:c.1160-2A>T;ENST00000513432:exon10:c.1328-2A>T;ENST00000430049:exon5:c.512-2A>T;ENST00000511820:exon5:c.553-2A>T;ENST00000510237:exon6:c.737-2A>T)	.	.	0.999989917668626	0.95
18	13042202	G	A	18	13042203	y	y	splicing	CEP192(NM_032142:exon15:c.1937-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.149-1G>A;ENST00000506447:exon15:c.1937-1G>A;ENST00000589596:exon12:c.1160-1G>A;ENST00000513432:exon10:c.1328-1G>A;ENST00000430049:exon5:c.512-1G>A;ENST00000511820:exon5:c.553-1G>A;ENST00000510237:exon6:c.737-1G>A)	.	.	0.999986675681007	0.95
18	13042202	G	C	18	13042203	y	y	splicing	CEP192(NM_032142:exon15:c.1937-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.149-1G>C;ENST00000506447:exon15:c.1937-1G>C;ENST00000589596:exon12:c.1160-1G>C;ENST00000513432:exon10:c.1328-1G>C;ENST00000430049:exon5:c.512-1G>C;ENST00000511820:exon5:c.553-1G>C;ENST00000510237:exon6:c.737-1G>C)	.	.	0.999986675681007	0.95
18	13042202	G	T	18	13042203	y	y	splicing	CEP192(NM_032142:exon15:c.1937-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.149-1G>T;ENST00000506447:exon15:c.1937-1G>T;ENST00000589596:exon12:c.1160-1G>T;ENST00000513432:exon10:c.1328-1G>T;ENST00000430049:exon5:c.512-1G>T;ENST00000511820:exon5:c.553-1G>T;ENST00000510237:exon6:c.737-1G>T)	.	.	0.999986675681007	0.942
18	13042203	G	A	18	13042204	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.G1937A:p.G646E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.G737A:p.G246E;ENSG00000101639:ENST00000325971:exon13:c.G149A:p.G50E;ENSG00000101639:ENST00000506447:exon15:c.G1937A:p.G646E;ENSG00000101639:ENST00000589596:exon12:c.G1160A:p.G387E;ENSG00000101639:ENST00000430049:exon5:c.G512A:p.G171E;	0.00152832139736923	0.124
18	13042203	G	C	18	13042204	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.G1937C:p.G646A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.G737C:p.G246A;ENSG00000101639:ENST00000325971:exon13:c.G149C:p.G50A;ENSG00000101639:ENST00000506447:exon15:c.G1937C:p.G646A;ENSG00000101639:ENST00000589596:exon12:c.G1160C:p.G387A;ENSG00000101639:ENST00000430049:exon5:c.G512C:p.G171A;	0.026570698137229	0.344
18	13042203	G	T	18	13042204	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.G1937T:p.G646V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.G737T:p.G246V;ENSG00000101639:ENST00000325971:exon13:c.G149T:p.G50V;ENSG00000101639:ENST00000506447:exon15:c.G1937T:p.G646V;ENSG00000101639:ENST00000589596:exon12:c.G1160T:p.G387V;ENSG00000101639:ENST00000430049:exon5:c.G512T:p.G171V;	0.869809931160835	0.608
18	13042204	A	C	18	13042205	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon15:c.A1938C:p.G646G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.A738C:p.G246G;ENSG00000101639:ENST00000325971:exon13:c.A150C:p.G50G;ENSG00000101639:ENST00000506447:exon15:c.A1938C:p.G646G;ENSG00000101639:ENST00000589596:exon12:c.A1161C:p.G387G;ENSG00000101639:ENST00000430049:exon5:c.A513C:p.G171G;	0.0406407779260948	0.076
18	13042204	A	G	18	13042205	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon15:c.A1938G:p.G646G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.A738G:p.G246G;ENSG00000101639:ENST00000325971:exon13:c.A150G:p.G50G;ENSG00000101639:ENST00000506447:exon15:c.A1938G:p.G646G;ENSG00000101639:ENST00000589596:exon12:c.A1161G:p.G387G;ENSG00000101639:ENST00000430049:exon5:c.A513G:p.G171G;	0.0356311145316732	0.054
18	13042204	A	T	18	13042205	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon15:c.A1938T:p.G646G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.A738T:p.G246G;ENSG00000101639:ENST00000325971:exon13:c.A150T:p.G50G;ENSG00000101639:ENST00000506447:exon15:c.A1938T:p.G646G;ENSG00000101639:ENST00000589596:exon12:c.A1161T:p.G387G;ENSG00000101639:ENST00000430049:exon5:c.A513T:p.G171G;	0.00885808251797879	0.11
18	13042331	G	A	18	13042332	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.G2065A:p.E689K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.G865A:p.E289K;ENSG00000101639:ENST00000325971:exon13:c.G277A:p.E93K;ENSG00000101639:ENST00000506447:exon15:c.G2065A:p.E689K;ENSG00000101639:ENST00000589596:exon12:c.G1288A:p.E430K;ENSG00000101639:ENST00000430049:exon5:c.G640A:p.E214K;	3.5919794313606E-4	0.002
18	13042331	G	C	18	13042332	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.G2065C:p.E689Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.G865C:p.E289Q;ENSG00000101639:ENST00000325971:exon13:c.G277C:p.E93Q;ENSG00000101639:ENST00000506447:exon15:c.G2065C:p.E689Q;ENSG00000101639:ENST00000589596:exon12:c.G1288C:p.E430Q;ENSG00000101639:ENST00000430049:exon5:c.G640C:p.E214Q;	8.10598829830159E-4	0.106
18	13042331	G	T	18	13042332	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon15:c.G2065T:p.E689X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon6:c.G865T:p.E289X;ENSG00000101639:ENST00000325971:exon13:c.G277T:p.E93X;ENSG00000101639:ENST00000506447:exon15:c.G2065T:p.E689X;ENSG00000101639:ENST00000589596:exon12:c.G1288T:p.E430X;ENSG00000101639:ENST00000430049:exon5:c.G640T:p.E214X;	0.741316326874478	0.462
18	13042332	A	C	18	13042333	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.A2066C:p.E689A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.A866C:p.E289A;ENSG00000101639:ENST00000325971:exon13:c.A278C:p.E93A;ENSG00000101639:ENST00000506447:exon15:c.A2066C:p.E689A;ENSG00000101639:ENST00000589596:exon12:c.A1289C:p.E430A;ENSG00000101639:ENST00000430049:exon5:c.A641C:p.E214A;	0.998938207319843	0.996
18	13042332	A	G	18	13042333	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.A2066G:p.E689G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.A866G:p.E289G;ENSG00000101639:ENST00000325971:exon13:c.A278G:p.E93G;ENSG00000101639:ENST00000506447:exon15:c.A2066G:p.E689G;ENSG00000101639:ENST00000589596:exon12:c.A1289G:p.E430G;ENSG00000101639:ENST00000430049:exon5:c.A641G:p.E214G;	0.999947518694468	0.984
18	13042332	A	T	18	13042333	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.A2066T:p.E689V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.A866T:p.E289V;ENSG00000101639:ENST00000325971:exon13:c.A278T:p.E93V;ENSG00000101639:ENST00000506447:exon15:c.A2066T:p.E689V;ENSG00000101639:ENST00000589596:exon12:c.A1289T:p.E430V;ENSG00000101639:ENST00000430049:exon5:c.A641T:p.E214V;	0.999947912273912	0.992
18	13042333	G	A	18	13042334	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon15:c.G2067A:p.E689E;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.G867A:p.E289E;ENSG00000101639:ENST00000325971:exon13:c.G279A:p.E93E;ENSG00000101639:ENST00000506447:exon15:c.G2067A:p.E689E;ENSG00000101639:ENST00000589596:exon12:c.G1290A:p.E430E;ENSG00000101639:ENST00000430049:exon5:c.G642A:p.E214E;	0.999954319561243	0.97
18	13042333	G	C	18	13042334	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.G2067C:p.E689D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.G867C:p.E289D;ENSG00000101639:ENST00000325971:exon13:c.G279C:p.E93D;ENSG00000101639:ENST00000506447:exon15:c.G2067C:p.E689D;ENSG00000101639:ENST00000589596:exon12:c.G1290C:p.E430D;ENSG00000101639:ENST00000430049:exon5:c.G642C:p.E214D;	0.999983295386404	0.976
18	13042333	G	T	18	13042334	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon15:c.G2067T:p.E689D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon6:c.G867T:p.E289D;ENSG00000101639:ENST00000325971:exon13:c.G279T:p.E93D;ENSG00000101639:ENST00000506447:exon15:c.G2067T:p.E689D;ENSG00000101639:ENST00000589596:exon12:c.G1290T:p.E430D;ENSG00000101639:ENST00000430049:exon5:c.G642T:p.E214D;	0.999974885868896	0.978
18	13042334	G	A	18	13042335	y	y	splicing	CEP192(NM_032142:exon15:c.2067+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.279+1G>A;ENST00000506447:exon15:c.2067+1G>A;ENST00000589596:exon12:c.1290+1G>A;ENST00000513432:exon10:c.1458+1G>A;ENST00000430049:exon5:c.642+1G>A;ENST00000511820:exon5:c.683+1G>A;ENST00000510237:exon6:c.867+1G>A)	.	.	0.999969242257053	0.908
18	13042334	G	C	18	13042335	y	y	splicing	CEP192(NM_032142:exon15:c.2067+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.279+1G>C;ENST00000506447:exon15:c.2067+1G>C;ENST00000589596:exon12:c.1290+1G>C;ENST00000513432:exon10:c.1458+1G>C;ENST00000430049:exon5:c.642+1G>C;ENST00000511820:exon5:c.683+1G>C;ENST00000510237:exon6:c.867+1G>C)	.	.	0.999965143305126	0.876
18	13042334	G	T	18	13042335	y	y	splicing	CEP192(NM_032142:exon15:c.2067+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.279+1G>T;ENST00000506447:exon15:c.2067+1G>T;ENST00000589596:exon12:c.1290+1G>T;ENST00000513432:exon10:c.1458+1G>T;ENST00000430049:exon5:c.642+1G>T;ENST00000511820:exon5:c.683+1G>T;ENST00000510237:exon6:c.867+1G>T)	.	.	0.999968430223941	0.886
18	13042335	T	A	18	13042336	y	y	splicing	CEP192(NM_032142:exon15:c.2067+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.279+2T>A;ENST00000506447:exon15:c.2067+2T>A;ENST00000589596:exon12:c.1290+2T>A;ENST00000513432:exon10:c.1458+2T>A;ENST00000430049:exon5:c.642+2T>A;ENST00000511820:exon5:c.683+2T>A;ENST00000510237:exon6:c.867+2T>A)	.	.	0.999982151912279	0.9
18	13042335	T	C	18	13042336	y	y	splicing	CEP192(NM_032142:exon15:c.2067+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.279+2T>C;ENST00000506447:exon15:c.2067+2T>C;ENST00000589596:exon12:c.1290+2T>C;ENST00000513432:exon10:c.1458+2T>C;ENST00000430049:exon5:c.642+2T>C;ENST00000511820:exon5:c.683+2T>C;ENST00000510237:exon6:c.867+2T>C)	.	.	0.958808608960587	0.57
18	13042335	T	G	18	13042336	y	y	splicing	CEP192(NM_032142:exon15:c.2067+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon13:c.279+2T>G;ENST00000506447:exon15:c.2067+2T>G;ENST00000589596:exon12:c.1290+2T>G;ENST00000513432:exon10:c.1458+2T>G;ENST00000430049:exon5:c.642+2T>G;ENST00000511820:exon5:c.683+2T>G;ENST00000510237:exon6:c.867+2T>G)	.	.	0.999972155025474	0.87
18	13042336	A	C	18	13042337	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999840718791009	0.918
18	13042336	A	G	18	13042337	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997535671557574	0.706
18	13042336	A	T	18	13042337	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999632862094271	0.95
18	13042337	G	A	18	13042338	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00145978436401143	0.332
18	13042337	G	C	18	13042338	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.87286961857088E-4	0.172
18	13042337	G	T	18	13042338	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.3345562037829E-4	0.194
18	13042338	C	A	18	13042339	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.99147704321017E-5	0.006
18	13042338	C	G	18	13042339	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.73799616042417E-4	0.204
18	13042338	C	T	18	13042339	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.69104814673512E-5	0.0
18	13042339	T	A	18	13042340	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00554499911702897	0.106
18	13042339	T	C	18	13042340	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00157633073087572	0.308
18	13042339	T	G	18	13042340	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.67756143882124E-4	0.122
18	13042340	T	A	18	13042341	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.21399734562628E-4	0.008
18	13042340	T	C	18	13042341	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.08056102726921E-4	0.008
18	13042340	T	G	18	13042341	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.8590789671807E-5	0.002
18	13042341	C	A	18	13042342	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.73659410988803E-5	0.0
18	13042341	C	G	18	13042342	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.39540369515627E-4	0.016
18	13042341	C	T	18	13042342	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.09912731771671E-5	0.006
18	13048846	T	A	18	13048847	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00846662566932334	0.25
18	13048846	T	C	18	13048847	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.78062515036579E-4	0.07
18	13048846	T	G	18	13048847	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0211689338034012	0.188
18	13048847	C	A	18	13048848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0102429039518371	0.116
18	13048847	C	G	18	13048848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00177832668793972	0.072
18	13048847	C	T	18	13048848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.06929140477522E-4	0.0
18	13048848	T	A	18	13048849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.026600721700906	0.19
18	13048848	T	C	18	13048849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.27983678139818E-4	0.014
18	13048848	T	G	18	13048849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0161755903936675	0.154
18	13048849	C	A	18	13048850	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0018206678506224	0.086
18	13048849	C	G	18	13048850	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00140450949782781	0.192
18	13048849	C	T	18	13048850	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.32112655264933E-5	0.006
18	13048850	A	C	18	13048851	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.78381297914422E-5	0.0
18	13048850	A	G	18	13048851	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.35430954044471E-5	0.0
18	13048850	A	T	18	13048851	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.30325766780267E-5	0.0
18	13048851	C	A	18	13048852	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.44964216310403E-4	0.01
18	13048851	C	G	18	13048852	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997489531547615	0.964
18	13048851	C	T	18	13048852	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.55754097050511E-5	0.014
18	13048852	T	A	18	13048853	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00256419792679845	0.054
18	13048852	T	C	18	13048853	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.96421234528493E-5	0.002
18	13048852	T	G	18	13048853	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00562771988137433	0.09
18	13048853	T	A	18	13048854	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.424820995932753	0.5
18	13048853	T	C	18	13048854	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0101763996215437	0.118
18	13048853	T	G	18	13048854	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.317239286846748	0.482
18	13048854	C	A	18	13048855	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.79979014661401E-5	0.03
18	13048854	C	G	18	13048855	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.24645772167079E-4	0.012
18	13048854	C	T	18	13048855	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.46115187731333E-4	0.004
18	13048855	T	A	18	13048856	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0136123084296097	0.314
18	13048855	T	C	18	13048856	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.44118529735462E-4	0.022
18	13048855	T	G	18	13048856	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.891267493306126	0.632
18	13048856	A	C	18	13048857	y	y	splicing	CEP192(NM_032142:exon16:c.2068-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.280-2A>C;ENST00000506447:exon16:c.2068-2A>C;ENST00000589596:exon13:c.1291-2A>C;ENST00000513432:exon11:c.1459-2A>C;ENST00000430049:exon6:c.643-2A>C;ENST00000511820:exon6:c.684-2A>C;ENST00000510237:exon7:c.868-2A>C)	.	.	0.999970104448312	0.884
18	13048856	A	G	18	13048857	y	y	splicing	CEP192(NM_032142:exon16:c.2068-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.280-2A>G;ENST00000506447:exon16:c.2068-2A>G;ENST00000589596:exon13:c.1291-2A>G;ENST00000513432:exon11:c.1459-2A>G;ENST00000430049:exon6:c.643-2A>G;ENST00000511820:exon6:c.684-2A>G;ENST00000510237:exon7:c.868-2A>G)	.	.	0.999970104448312	0.894
18	13048856	A	T	18	13048857	y	y	splicing	CEP192(NM_032142:exon16:c.2068-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.280-2A>T;ENST00000506447:exon16:c.2068-2A>T;ENST00000589596:exon13:c.1291-2A>T;ENST00000513432:exon11:c.1459-2A>T;ENST00000430049:exon6:c.643-2A>T;ENST00000511820:exon6:c.684-2A>T;ENST00000510237:exon7:c.868-2A>T)	.	.	0.999978156327223	0.93
18	13048857	G	A	18	13048858	y	y	splicing	CEP192(NM_032142:exon16:c.2068-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.280-1G>A;ENST00000506447:exon16:c.2068-1G>A;ENST00000589596:exon13:c.1291-1G>A;ENST00000513432:exon11:c.1459-1G>A;ENST00000430049:exon6:c.643-1G>A;ENST00000511820:exon6:c.684-1G>A;ENST00000510237:exon7:c.868-1G>A)	.	.	0.999945520654368	0.948
18	13048857	G	C	18	13048858	y	y	splicing	CEP192(NM_032142:exon16:c.2068-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.280-1G>C;ENST00000506447:exon16:c.2068-1G>C;ENST00000589596:exon13:c.1291-1G>C;ENST00000513432:exon11:c.1459-1G>C;ENST00000430049:exon6:c.643-1G>C;ENST00000511820:exon6:c.684-1G>C;ENST00000510237:exon7:c.868-1G>C)	.	.	0.999925439713521	0.91
18	13048857	G	T	18	13048858	y	y	splicing	CEP192(NM_032142:exon16:c.2068-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.280-1G>T;ENST00000506447:exon16:c.2068-1G>T;ENST00000589596:exon13:c.1291-1G>T;ENST00000513432:exon11:c.1459-1G>T;ENST00000430049:exon6:c.643-1G>T;ENST00000511820:exon6:c.684-1G>T;ENST00000510237:exon7:c.868-1G>T)	.	.	0.999943620371814	0.946
18	13048858	G	A	18	13048859	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2068A:p.D690N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G868A:p.D290N;ENSG00000101639:ENST00000325971:exon14:c.G280A:p.D94N;ENSG00000101639:ENST00000506447:exon16:c.G2068A:p.D690N;ENSG00000101639:ENST00000589596:exon13:c.G1291A:p.D431N;ENSG00000101639:ENST00000430049:exon6:c.G643A:p.D215N;	0.999840561459839	0.908
18	13048858	G	C	18	13048859	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2068C:p.D690H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G868C:p.D290H;ENSG00000101639:ENST00000325971:exon14:c.G280C:p.D94H;ENSG00000101639:ENST00000506447:exon16:c.G2068C:p.D690H;ENSG00000101639:ENST00000589596:exon13:c.G1291C:p.D431H;ENSG00000101639:ENST00000430049:exon6:c.G643C:p.D215H;	0.999095787751457	0.964
18	13048858	G	T	18	13048859	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2068T:p.D690Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G868T:p.D290Y;ENSG00000101639:ENST00000325971:exon14:c.G280T:p.D94Y;ENSG00000101639:ENST00000506447:exon16:c.G2068T:p.D690Y;ENSG00000101639:ENST00000589596:exon13:c.G1291T:p.D431Y;ENSG00000101639:ENST00000430049:exon6:c.G643T:p.D215Y;	0.999320908448666	0.952
18	13048859	A	C	18	13048860	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.A2069C:p.D690A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.A869C:p.D290A;ENSG00000101639:ENST00000325971:exon14:c.A281C:p.D94A;ENSG00000101639:ENST00000506447:exon16:c.A2069C:p.D690A;ENSG00000101639:ENST00000589596:exon13:c.A1292C:p.D431A;ENSG00000101639:ENST00000430049:exon6:c.A644C:p.D215A;	0.174816290421105	0.554
18	13048859	A	G	18	13048860	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.A2069G:p.D690G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.A869G:p.D290G;ENSG00000101639:ENST00000325971:exon14:c.A281G:p.D94G;ENSG00000101639:ENST00000506447:exon16:c.A2069G:p.D690G;ENSG00000101639:ENST00000589596:exon13:c.A1292G:p.D431G;ENSG00000101639:ENST00000430049:exon6:c.A644G:p.D215G;	0.356767210910591	0.624
18	13048859	A	T	18	13048860	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.A2069T:p.D690V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.A869T:p.D290V;ENSG00000101639:ENST00000325971:exon14:c.A281T:p.D94V;ENSG00000101639:ENST00000506447:exon16:c.A2069T:p.D690V;ENSG00000101639:ENST00000589596:exon13:c.A1292T:p.D431V;ENSG00000101639:ENST00000430049:exon6:c.A644T:p.D215V;	0.00369914712750413	0.026
18	13049678	G	A	18	13049679	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2888A:p.S963N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G1688A:p.S563N;ENSG00000101639:ENST00000325971:exon14:c.G1100A:p.S367N;ENSG00000101639:ENST00000506447:exon16:c.G2888A:p.S963N;ENSG00000101639:ENST00000589596:exon13:c.G2111A:p.S704N;ENSG00000101639:ENST00000430049:exon6:c.G1463A:p.S488N;	1.26848964498332E-5	0.0
18	13049678	G	C	18	13049679	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2888C:p.S963T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G1688C:p.S563T;ENSG00000101639:ENST00000325971:exon14:c.G1100C:p.S367T;ENSG00000101639:ENST00000506447:exon16:c.G2888C:p.S963T;ENSG00000101639:ENST00000589596:exon13:c.G2111C:p.S704T;ENSG00000101639:ENST00000430049:exon6:c.G1463C:p.S488T;	2.82817916916494E-5	0.05
18	13049678	G	T	18	13049679	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2888T:p.S963I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G1688T:p.S563I;ENSG00000101639:ENST00000325971:exon14:c.G1100T:p.S367I;ENSG00000101639:ENST00000506447:exon16:c.G2888T:p.S963I;ENSG00000101639:ENST00000589596:exon13:c.G2111T:p.S704I;ENSG00000101639:ENST00000430049:exon6:c.G1463T:p.S488I;	5.3986430210102E-5	0.0
18	13049679	T	A	18	13049680	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.T2889A:p.S963R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.T1689A:p.S563R;ENSG00000101639:ENST00000325971:exon14:c.T1101A:p.S367R;ENSG00000101639:ENST00000506447:exon16:c.T2889A:p.S963R;ENSG00000101639:ENST00000589596:exon13:c.T2112A:p.S704R;ENSG00000101639:ENST00000430049:exon6:c.T1464A:p.S488R;	6.23143575550115E-5	0.054
18	13049679	T	C	18	13049680	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon16:c.T2889C:p.S963S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.T1689C:p.S563S;ENSG00000101639:ENST00000325971:exon14:c.T1101C:p.S367S;ENSG00000101639:ENST00000506447:exon16:c.T2889C:p.S963S;ENSG00000101639:ENST00000589596:exon13:c.T2112C:p.S704S;ENSG00000101639:ENST00000430049:exon6:c.T1464C:p.S488S;	1.4008278785258E-5	0.0
18	13049679	T	G	18	13049680	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.T2889G:p.S963R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.T1689G:p.S563R;ENSG00000101639:ENST00000325971:exon14:c.T1101G:p.S367R;ENSG00000101639:ENST00000506447:exon16:c.T2889G:p.S963R;ENSG00000101639:ENST00000589596:exon13:c.T2112G:p.S704R;ENSG00000101639:ENST00000430049:exon6:c.T1464G:p.S488R;	7.89831906907597E-5	0.004
18	13049680	G	A	18	13049681	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2890A:p.D964N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G1690A:p.D564N;ENSG00000101639:ENST00000325971:exon14:c.G1102A:p.D368N;ENSG00000101639:ENST00000506447:exon16:c.G2890A:p.D964N;ENSG00000101639:ENST00000589596:exon13:c.G2113A:p.D705N;ENSG00000101639:ENST00000430049:exon6:c.G1465A:p.D489N;	0.963271048708813	0.67
18	13049680	G	C	18	13049681	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2890C:p.D964H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G1690C:p.D564H;ENSG00000101639:ENST00000325971:exon14:c.G1102C:p.D368H;ENSG00000101639:ENST00000506447:exon16:c.G2890C:p.D964H;ENSG00000101639:ENST00000589596:exon13:c.G2113C:p.D705H;ENSG00000101639:ENST00000430049:exon6:c.G1465C:p.D489H;	0.999545758275281	0.864
18	13049680	G	T	18	13049681	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon16:c.G2890T:p.D964Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon7:c.G1690T:p.D564Y;ENSG00000101639:ENST00000325971:exon14:c.G1102T:p.D368Y;ENSG00000101639:ENST00000506447:exon16:c.G2890T:p.D964Y;ENSG00000101639:ENST00000589596:exon13:c.G2113T:p.D705Y;ENSG00000101639:ENST00000430049:exon6:c.G1465T:p.D489Y;	0.999194739011259	0.814
18	13049681	G	A	18	13049682	y	y	splicing	CEP192(NM_032142:exon16:c.2890+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.1102+1G>A;ENST00000506447:exon16:c.2890+1G>A;ENST00000589596:exon13:c.2113+1G>A;ENST00000513432:exon11:c.2281+1G>A;ENST00000430049:exon6:c.1465+1G>A;ENST00000511820:exon6:c.1506+1G>A;ENST00000510237:exon7:c.1690+1G>A)	.	.	0.999974785031454	0.878
18	13049681	G	C	18	13049682	y	y	splicing	CEP192(NM_032142:exon16:c.2890+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.1102+1G>C;ENST00000506447:exon16:c.2890+1G>C;ENST00000589596:exon13:c.2113+1G>C;ENST00000513432:exon11:c.2281+1G>C;ENST00000430049:exon6:c.1465+1G>C;ENST00000511820:exon6:c.1506+1G>C;ENST00000510237:exon7:c.1690+1G>C)	.	.	0.999975159880751	0.864
18	13049681	G	T	18	13049682	y	y	splicing	CEP192(NM_032142:exon16:c.2890+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.1102+1G>T;ENST00000506447:exon16:c.2890+1G>T;ENST00000589596:exon13:c.2113+1G>T;ENST00000513432:exon11:c.2281+1G>T;ENST00000430049:exon6:c.1465+1G>T;ENST00000511820:exon6:c.1506+1G>T;ENST00000510237:exon7:c.1690+1G>T)	.	.	0.999974785031454	0.866
18	13049682	T	A	18	13049683	y	y	splicing	CEP192(NM_032142:exon16:c.2890+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.1102+2T>A;ENST00000506447:exon16:c.2890+2T>A;ENST00000589596:exon13:c.2113+2T>A;ENST00000513432:exon11:c.2281+2T>A;ENST00000430049:exon6:c.1465+2T>A;ENST00000511820:exon6:c.1506+2T>A;ENST00000510237:exon7:c.1690+2T>A)	.	.	0.999969255906173	0.866
18	13049682	T	C	18	13049683	y	y	splicing	CEP192(NM_032142:exon16:c.2890+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.1102+2T>C;ENST00000506447:exon16:c.2890+2T>C;ENST00000589596:exon13:c.2113+2T>C;ENST00000513432:exon11:c.2281+2T>C;ENST00000430049:exon6:c.1465+2T>C;ENST00000511820:exon6:c.1506+2T>C;ENST00000510237:exon7:c.1690+2T>C)	.	.	0.946087814407195	0.604
18	13049682	T	G	18	13049683	y	y	splicing	CEP192(NM_032142:exon16:c.2890+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon14:c.1102+2T>G;ENST00000506447:exon16:c.2890+2T>G;ENST00000589596:exon13:c.2113+2T>G;ENST00000513432:exon11:c.2281+2T>G;ENST00000430049:exon6:c.1465+2T>G;ENST00000511820:exon6:c.1506+2T>G;ENST00000510237:exon7:c.1690+2T>G)	.	.	0.999969255906173	0.848
18	13049683	A	C	18	13049684	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.951167238300291	0.706
18	13049683	A	G	18	13049684	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.052757246008E-4	0.188
18	13049683	A	T	18	13049684	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.920478836763167	0.652
18	13049684	A	C	18	13049685	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.249680354566151	0.416
18	13049684	A	G	18	13049685	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.636741667446964	0.426
18	13049684	A	T	18	13049685	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.468915435339026	0.516
18	13049685	G	A	18	13049686	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994935728608222	0.708
18	13049685	G	C	18	13049686	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997738081768996	0.768
18	13049685	G	T	18	13049686	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994802083423007	0.724
18	13049686	T	A	18	13049687	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.306505602730175	0.484
18	13049686	T	C	18	13049687	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.352429680168923	0.498
18	13049686	T	G	18	13049687	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.053484523629203	0.348
18	13049687	G	A	18	13049688	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.94286898449511E-5	0.028
18	13049687	G	C	18	13049688	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.52552705250148E-5	0.028
18	13049687	G	T	18	13049688	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.62210964208233E-5	0.026
18	13049688	T	A	18	13049689	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.62850261126439E-6	0.01
18	13049688	T	C	18	13049689	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.042984754792E-5	0.0
18	13049688	T	G	18	13049689	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.12843446459978E-5	0.0
18	13049752	C	A	18	13049753	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.0940794909106E-5	0.066
18	13049752	C	G	18	13049753	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.38631848478198E-4	0.086
18	13049752	C	T	18	13049753	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.13854764215315E-5	0.028
18	13049753	C	A	18	13049754	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.18087573456524E-4	0.052
18	13049753	C	G	18	13049754	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.24950787987474E-4	0.028
18	13049753	C	T	18	13049754	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.39607463466741E-5	0.0
18	13049754	T	A	18	13049755	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0184500589393097	0.35
18	13049754	T	C	18	13049755	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.08938603450535E-4	0.122
18	13049754	T	G	18	13049755	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00270745488318835	0.32
18	13049755	T	A	18	13049756	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.16274431471232E-4	0.142
18	13049755	T	C	18	13049756	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.16312030694989E-4	0.026
18	13049755	T	G	18	13049756	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.64550298456325E-4	0.178
18	13049756	T	A	18	13049757	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00538698377995341	0.124
18	13049756	T	C	18	13049757	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.48394079686798E-4	0.006
18	13049756	T	G	18	13049757	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00578576616517016	0.116
18	13049757	C	A	18	13049758	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0739670644272416	0.338
18	13049757	C	G	18	13049758	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0123906534194976	0.282
18	13049757	C	T	18	13049758	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.33080998007235E-4	0.154
18	13049758	T	A	18	13049759	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999960620340698	0.948
18	13049758	T	C	18	13049759	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.72224312948481E-4	0.066
18	13049758	T	G	18	13049759	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0215051478995975	0.368
18	13049759	G	A	18	13049760	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.13277103218741E-5	0.01
18	13049759	G	C	18	13049760	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.76224730954599E-5	0.016
18	13049759	G	T	18	13049760	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.22426167521378E-4	0.062
18	13049760	A	C	18	13049761	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.13672042770593E-5	0.04
18	13049760	A	G	18	13049761	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.90995738782056E-5	0.01
18	13049760	A	T	18	13049761	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.2362873243489E-5	0.002
18	13049761	T	A	18	13049762	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.462078206049656	0.468
18	13049761	T	C	18	13049762	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.0253798019605E-5	0.084
18	13049761	T	G	18	13049762	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998850415954759	0.73
18	13049762	A	C	18	13049763	y	y	splicing	CEP192(NM_032142:exon17:c.2891-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1103-2A>C;ENST00000506447:exon17:c.2891-2A>C;ENST00000589596:exon14:c.2114-2A>C;ENST00000513432:exon12:c.2282-2A>C;ENST00000430049:exon7:c.1466-2A>C;ENST00000511820:exon7:c.1507-2A>C;ENST00000510237:exon8:c.1691-2A>C)	.	.	0.999969393053703	0.916
18	13049762	A	G	18	13049763	y	y	splicing	CEP192(NM_032142:exon17:c.2891-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1103-2A>G;ENST00000506447:exon17:c.2891-2A>G;ENST00000589596:exon14:c.2114-2A>G;ENST00000513432:exon12:c.2282-2A>G;ENST00000430049:exon7:c.1466-2A>G;ENST00000511820:exon7:c.1507-2A>G;ENST00000510237:exon8:c.1691-2A>G)	.	.	0.999969393053703	0.91
18	13049762	A	T	18	13049763	y	y	splicing	CEP192(NM_032142:exon17:c.2891-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1103-2A>T;ENST00000506447:exon17:c.2891-2A>T;ENST00000589596:exon14:c.2114-2A>T;ENST00000513432:exon12:c.2282-2A>T;ENST00000430049:exon7:c.1466-2A>T;ENST00000511820:exon7:c.1507-2A>T;ENST00000510237:exon8:c.1691-2A>T)	.	.	0.99996764000787	0.92
18	13049763	G	A	18	13049764	y	y	splicing	CEP192(NM_032142:exon17:c.2891-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1103-1G>A;ENST00000506447:exon17:c.2891-1G>A;ENST00000589596:exon14:c.2114-1G>A;ENST00000513432:exon12:c.2282-1G>A;ENST00000430049:exon7:c.1466-1G>A;ENST00000511820:exon7:c.1507-1G>A;ENST00000510237:exon8:c.1691-1G>A)	.	.	0.999966385314619	0.94
18	13049763	G	C	18	13049764	y	y	splicing	CEP192(NM_032142:exon17:c.2891-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1103-1G>C;ENST00000506447:exon17:c.2891-1G>C;ENST00000589596:exon14:c.2114-1G>C;ENST00000513432:exon12:c.2282-1G>C;ENST00000430049:exon7:c.1466-1G>C;ENST00000511820:exon7:c.1507-1G>C;ENST00000510237:exon8:c.1691-1G>C)	.	.	0.999973459734236	0.918
18	13049763	G	T	18	13049764	y	y	splicing	CEP192(NM_032142:exon17:c.2891-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1103-1G>T;ENST00000506447:exon17:c.2891-1G>T;ENST00000589596:exon14:c.2114-1G>T;ENST00000513432:exon12:c.2282-1G>T;ENST00000430049:exon7:c.1466-1G>T;ENST00000511820:exon7:c.1507-1G>T;ENST00000510237:exon8:c.1691-1G>T)	.	.	0.999955545308606	0.918
18	13049764	A	C	18	13049765	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.A2891C:p.D964A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.A1691C:p.D564A;ENSG00000101639:ENST00000325971:exon15:c.A1103C:p.D368A;ENSG00000101639:ENST00000506447:exon17:c.A2891C:p.D964A;ENSG00000101639:ENST00000589596:exon14:c.A2114C:p.D705A;ENSG00000101639:ENST00000430049:exon7:c.A1466C:p.D489A;	0.0164837247880542	0.19
18	13049764	A	G	18	13049765	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.A2891G:p.D964G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.A1691G:p.D564G;ENSG00000101639:ENST00000325971:exon15:c.A1103G:p.D368G;ENSG00000101639:ENST00000506447:exon17:c.A2891G:p.D964G;ENSG00000101639:ENST00000589596:exon14:c.A2114G:p.D705G;ENSG00000101639:ENST00000430049:exon7:c.A1466G:p.D489G;	1.8986305130125E-4	0.032
18	13049764	A	T	18	13049765	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.A2891T:p.D964V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.A1691T:p.D564V;ENSG00000101639:ENST00000325971:exon15:c.A1103T:p.D368V;ENSG00000101639:ENST00000506447:exon17:c.A2891T:p.D964V;ENSG00000101639:ENST00000589596:exon14:c.A2114T:p.D705V;ENSG00000101639:ENST00000430049:exon7:c.A1466T:p.D489V;	0.0210853447510814	0.124
18	13049765	T	A	18	13049766	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.T2892A:p.D964E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.T1692A:p.D564E;ENSG00000101639:ENST00000325971:exon15:c.T1104A:p.D368E;ENSG00000101639:ENST00000506447:exon17:c.T2892A:p.D964E;ENSG00000101639:ENST00000589596:exon14:c.T2115A:p.D705E;ENSG00000101639:ENST00000430049:exon7:c.T1467A:p.D489E;	0.00175484696371299	0.126
18	13049765	T	C	18	13049766	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon17:c.T2892C:p.D964D;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.T1692C:p.D564D;ENSG00000101639:ENST00000325971:exon15:c.T1104C:p.D368D;ENSG00000101639:ENST00000506447:exon17:c.T2892C:p.D964D;ENSG00000101639:ENST00000589596:exon14:c.T2115C:p.D705D;ENSG00000101639:ENST00000430049:exon7:c.T1467C:p.D489D;	0.00250518281144671	0.078
18	13049765	T	G	18	13049766	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.T2892G:p.D964E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.T1692G:p.D564E;ENSG00000101639:ENST00000325971:exon15:c.T1104G:p.D368E;ENSG00000101639:ENST00000506447:exon17:c.T2892G:p.D964E;ENSG00000101639:ENST00000589596:exon14:c.T2115G:p.D705E;ENSG00000101639:ENST00000430049:exon7:c.T1467G:p.D489E;	0.00596258831395388	0.14
18	13049888	A	C	18	13049889	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon17:c.A3015C:p.S1005S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.A1815C:p.S605S;ENSG00000101639:ENST00000325971:exon15:c.A1227C:p.S409S;ENSG00000101639:ENST00000506447:exon17:c.A3015C:p.S1005S;ENSG00000101639:ENST00000589596:exon14:c.A2238C:p.S746S;ENSG00000101639:ENST00000430049:exon7:c.A1590C:p.S530S;	9.06802202123814E-5	0.0
18	13049888	A	G	18	13049889	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon17:c.A3015G:p.S1005S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.A1815G:p.S605S;ENSG00000101639:ENST00000325971:exon15:c.A1227G:p.S409S;ENSG00000101639:ENST00000506447:exon17:c.A3015G:p.S1005S;ENSG00000101639:ENST00000589596:exon14:c.A2238G:p.S746S;ENSG00000101639:ENST00000430049:exon7:c.A1590G:p.S530S;	1.65081448582738E-4	0.012
18	13049888	A	T	18	13049889	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon17:c.A3015T:p.S1005S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.A1815T:p.S605S;ENSG00000101639:ENST00000325971:exon15:c.A1227T:p.S409S;ENSG00000101639:ENST00000506447:exon17:c.A3015T:p.S1005S;ENSG00000101639:ENST00000589596:exon14:c.A2238T:p.S746S;ENSG00000101639:ENST00000430049:exon7:c.A1590T:p.S530S;	0.00113835345361402	0.14
18	13049889	G	A	18	13049890	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.G3016A:p.G1006R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.G1816A:p.G606R;ENSG00000101639:ENST00000325971:exon15:c.G1228A:p.G410R;ENSG00000101639:ENST00000506447:exon17:c.G3016A:p.G1006R;ENSG00000101639:ENST00000589596:exon14:c.G2239A:p.G747R;ENSG00000101639:ENST00000430049:exon7:c.G1591A:p.G531R;	0.0143383616788477	0.33
18	13049889	G	C	18	13049890	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.G3016C:p.G1006R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.G1816C:p.G606R;ENSG00000101639:ENST00000325971:exon15:c.G1228C:p.G410R;ENSG00000101639:ENST00000506447:exon17:c.G3016C:p.G1006R;ENSG00000101639:ENST00000589596:exon14:c.G2239C:p.G747R;ENSG00000101639:ENST00000430049:exon7:c.G1591C:p.G531R;	0.0175860842063207	0.162
18	13049889	G	T	18	13049890	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.G3016T:p.G1006W;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.G1816T:p.G606W;ENSG00000101639:ENST00000325971:exon15:c.G1228T:p.G410W;ENSG00000101639:ENST00000506447:exon17:c.G3016T:p.G1006W;ENSG00000101639:ENST00000589596:exon14:c.G2239T:p.G747W;ENSG00000101639:ENST00000430049:exon7:c.G1591T:p.G531W;	0.0290553482547082	0.13
18	13049890	G	A	18	13049891	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.G3017A:p.G1006E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.G1817A:p.G606E;ENSG00000101639:ENST00000325971:exon15:c.G1229A:p.G410E;ENSG00000101639:ENST00000506447:exon17:c.G3017A:p.G1006E;ENSG00000101639:ENST00000589596:exon14:c.G2240A:p.G747E;ENSG00000101639:ENST00000430049:exon7:c.G1592A:p.G531E;	0.999646338982619	0.906
18	13049890	G	C	18	13049891	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.G3017C:p.G1006A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.G1817C:p.G606A;ENSG00000101639:ENST00000325971:exon15:c.G1229C:p.G410A;ENSG00000101639:ENST00000506447:exon17:c.G3017C:p.G1006A;ENSG00000101639:ENST00000589596:exon14:c.G2240C:p.G747A;ENSG00000101639:ENST00000430049:exon7:c.G1592C:p.G531A;	0.999882449872302	0.928
18	13049890	G	T	18	13049891	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon17:c.G3017T:p.G1006V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon8:c.G1817T:p.G606V;ENSG00000101639:ENST00000325971:exon15:c.G1229T:p.G410V;ENSG00000101639:ENST00000506447:exon17:c.G3017T:p.G1006V;ENSG00000101639:ENST00000589596:exon14:c.G2240T:p.G747V;ENSG00000101639:ENST00000430049:exon7:c.G1592T:p.G531V;	0.999749515238883	0.894
18	13049891	G	A	18	13049892	y	y	splicing	CEP192(NM_032142:exon17:c.3017+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1229+1G>A;ENST00000506447:exon17:c.3017+1G>A;ENST00000589596:exon14:c.2240+1G>A;ENST00000513432:exon12:c.2408+1G>A;ENST00000430049:exon7:c.1592+1G>A;ENST00000511820:exon7:c.1633+1G>A;ENST00000510237:exon8:c.1817+1G>A)	.	.	0.999982737877662	0.938
18	13049891	G	C	18	13049892	y	y	splicing	CEP192(NM_032142:exon17:c.3017+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1229+1G>C;ENST00000506447:exon17:c.3017+1G>C;ENST00000589596:exon14:c.2240+1G>C;ENST00000513432:exon12:c.2408+1G>C;ENST00000430049:exon7:c.1592+1G>C;ENST00000511820:exon7:c.1633+1G>C;ENST00000510237:exon8:c.1817+1G>C)	.	.	0.999982737877662	0.932
18	13049891	G	T	18	13049892	y	y	splicing	CEP192(NM_032142:exon17:c.3017+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1229+1G>T;ENST00000506447:exon17:c.3017+1G>T;ENST00000589596:exon14:c.2240+1G>T;ENST00000513432:exon12:c.2408+1G>T;ENST00000430049:exon7:c.1592+1G>T;ENST00000511820:exon7:c.1633+1G>T;ENST00000510237:exon8:c.1817+1G>T)	.	.	0.999982737877662	0.938
18	13049892	T	A	18	13049893	y	y	splicing	CEP192(NM_032142:exon17:c.3017+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1229+2T>A;ENST00000506447:exon17:c.3017+2T>A;ENST00000589596:exon14:c.2240+2T>A;ENST00000513432:exon12:c.2408+2T>A;ENST00000430049:exon7:c.1592+2T>A;ENST00000511820:exon7:c.1633+2T>A;ENST00000510237:exon8:c.1817+2T>A)	.	.	0.999988247793601	0.926
18	13049892	T	C	18	13049893	y	y	splicing	CEP192(NM_032142:exon17:c.3017+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1229+2T>C;ENST00000506447:exon17:c.3017+2T>C;ENST00000589596:exon14:c.2240+2T>C;ENST00000513432:exon12:c.2408+2T>C;ENST00000430049:exon7:c.1592+2T>C;ENST00000511820:exon7:c.1633+2T>C;ENST00000510237:exon8:c.1817+2T>C)	.	.	0.994063255842726	0.714
18	13049892	T	G	18	13049893	y	y	splicing	CEP192(NM_032142:exon17:c.3017+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon15:c.1229+2T>G;ENST00000506447:exon17:c.3017+2T>G;ENST00000589596:exon14:c.2240+2T>G;ENST00000513432:exon12:c.2408+2T>G;ENST00000430049:exon7:c.1592+2T>G;ENST00000511820:exon7:c.1633+2T>G;ENST00000510237:exon8:c.1817+2T>G)	.	.	0.999988247793601	0.926
18	13049893	A	C	18	13049894	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.36939302266918	0.414
18	13049893	A	G	18	13049894	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.35500003363185E-4	0.008
18	13049893	A	T	18	13049894	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.382068390065719	0.464
18	13049894	A	C	18	13049895	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0140943294109939	0.222
18	13049894	A	G	18	13049895	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0638981045422294	0.326
18	13049894	A	T	18	13049895	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0158839990960244	0.258
18	13049895	G	A	18	13049896	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999216760406135	0.928
18	13049895	G	C	18	13049896	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999846814871994	0.93
18	13049895	G	T	18	13049896	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999616263033935	0.904
18	13049896	T	A	18	13049897	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0742475063782828	0.358
18	13049896	T	C	18	13049897	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0487824389707244	0.422
18	13049896	T	G	18	13049897	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00504028630985443	0.298
18	13049897	G	A	18	13049898	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.74480241737554E-4	0.0
18	13049897	G	C	18	13049898	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.74480241737554E-4	0.004
18	13049897	G	T	18	13049898	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.74480241737554E-4	0.004
18	13049898	T	A	18	13049899	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.98493788762376E-5	0.0
18	13049898	T	C	18	13049899	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.69323540707763E-5	0.0
18	13049898	T	G	18	13049899	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.49367196436331E-5	0.0
18	13052906	C	A	18	13052907	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.39741051716047E-5	0.004
18	13052906	C	G	18	13052907	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.23730810774792E-5	0.002
18	13052906	C	T	18	13052907	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.44733897414599E-5	0.0
18	13052907	T	A	18	13052908	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.90477731788451E-4	0.114
18	13052907	T	C	18	13052908	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.84084130784279E-4	0.06
18	13052907	T	G	18	13052908	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.07117499344805E-4	0.108
18	13052908	T	A	18	13052909	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00899612299799239	0.112
18	13052908	T	C	18	13052909	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.40993576554238E-4	0.014
18	13052908	T	G	18	13052909	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0026168062381086	0.108
18	13052909	C	A	18	13052910	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.07234305229986E-4	0.058
18	13052909	C	G	18	13052910	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.62529327538144E-5	0.014
18	13052909	C	T	18	13052910	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.82590761445112E-5	0.002
18	13052910	T	A	18	13052911	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.75845773043465E-4	0.018
18	13052910	T	C	18	13052911	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.76807162065919E-5	0.004
18	13052910	T	G	18	13052911	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.62004196111299E-4	0.016
18	13052911	C	A	18	13052912	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.66891974051853E-4	0.042
18	13052911	C	G	18	13052912	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.36129970992771E-4	0.034
18	13052911	C	T	18	13052912	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.69445907331964E-5	0.0
18	13052912	T	A	18	13052913	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00869985363032272	0.16
18	13052912	T	C	18	13052913	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.74039013172803E-4	0.004
18	13052912	T	G	18	13052913	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00586613864076092	0.156
18	13052913	T	A	18	13052914	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00191569329705241	0.144
18	13052913	T	C	18	13052914	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.38150389952434E-4	0.062
18	13052913	T	G	18	13052914	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00151718904298884	0.17
18	13052914	T	A	18	13052915	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.1639623970684E-5	0.0
18	13052914	T	C	18	13052915	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.04875175540409E-5	0.0
18	13052914	T	G	18	13052915	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.58806340815546E-5	0.0
18	13052915	C	A	18	13052916	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.412545567564739	0.336
18	13052915	C	G	18	13052916	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997306586786746	0.93
18	13052915	C	T	18	13052916	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00467046353441016	0.04
18	13052916	A	C	18	13052917	y	y	splicing	CEP192(NM_032142:exon18:c.3018-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1230-2A>C;ENST00000506447:exon18:c.3018-2A>C;ENST00000589596:exon15:c.2241-2A>C;ENST00000513432:exon13:c.2409-2A>C;ENST00000430049:exon8:c.1593-2A>C;ENST00000511820:exon8:c.1634-2A>C;ENST00000510237:exon9:c.1818-2A>C)	.	.	0.999989917668626	0.926
18	13052916	A	G	18	13052917	y	y	splicing	CEP192(NM_032142:exon18:c.3018-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1230-2A>G;ENST00000506447:exon18:c.3018-2A>G;ENST00000589596:exon15:c.2241-2A>G;ENST00000513432:exon13:c.2409-2A>G;ENST00000430049:exon8:c.1593-2A>G;ENST00000511820:exon8:c.1634-2A>G;ENST00000510237:exon9:c.1818-2A>G)	.	.	0.999989917668626	0.924
18	13052916	A	T	18	13052917	y	y	splicing	CEP192(NM_032142:exon18:c.3018-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1230-2A>T;ENST00000506447:exon18:c.3018-2A>T;ENST00000589596:exon15:c.2241-2A>T;ENST00000513432:exon13:c.2409-2A>T;ENST00000430049:exon8:c.1593-2A>T;ENST00000511820:exon8:c.1634-2A>T;ENST00000510237:exon9:c.1818-2A>T)	.	.	0.999989917668626	0.926
18	13052917	G	A	18	13052918	y	y	splicing	CEP192(NM_032142:exon18:c.3018-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1230-1G>A;ENST00000506447:exon18:c.3018-1G>A;ENST00000589596:exon15:c.2241-1G>A;ENST00000513432:exon13:c.2409-1G>A;ENST00000430049:exon8:c.1593-1G>A;ENST00000511820:exon8:c.1634-1G>A;ENST00000510237:exon9:c.1818-1G>A)	.	.	0.999986675681007	0.932
18	13052917	G	C	18	13052918	y	y	splicing	CEP192(NM_032142:exon18:c.3018-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1230-1G>C;ENST00000506447:exon18:c.3018-1G>C;ENST00000589596:exon15:c.2241-1G>C;ENST00000513432:exon13:c.2409-1G>C;ENST00000430049:exon8:c.1593-1G>C;ENST00000511820:exon8:c.1634-1G>C;ENST00000510237:exon9:c.1818-1G>C)	.	.	0.999986675681007	0.932
18	13052917	G	T	18	13052918	y	y	splicing	CEP192(NM_032142:exon18:c.3018-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1230-1G>T;ENST00000506447:exon18:c.3018-1G>T;ENST00000589596:exon15:c.2241-1G>T;ENST00000513432:exon13:c.2409-1G>T;ENST00000430049:exon8:c.1593-1G>T;ENST00000511820:exon8:c.1634-1G>T;ENST00000510237:exon9:c.1818-1G>T)	.	.	0.999986675681007	0.932
18	13052918	G	A	18	13052919	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon18:c.G3018A:p.G1006G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.G1818A:p.G606G;ENSG00000101639:ENST00000325971:exon16:c.G1230A:p.G410G;ENSG00000101639:ENST00000506447:exon18:c.G3018A:p.G1006G;ENSG00000101639:ENST00000589596:exon15:c.G2241A:p.G747G;ENSG00000101639:ENST00000430049:exon8:c.G1593A:p.G531G;	8.36430712648697E-4	0.156
18	13052918	G	C	18	13052919	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon18:c.G3018C:p.G1006G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.G1818C:p.G606G;ENSG00000101639:ENST00000325971:exon16:c.G1230C:p.G410G;ENSG00000101639:ENST00000506447:exon18:c.G3018C:p.G1006G;ENSG00000101639:ENST00000589596:exon15:c.G2241C:p.G747G;ENSG00000101639:ENST00000430049:exon8:c.G1593C:p.G531G;	0.00885639023513075	0.242
18	13052918	G	T	18	13052919	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon18:c.G3018T:p.G1006G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.G1818T:p.G606G;ENSG00000101639:ENST00000325971:exon16:c.G1230T:p.G410G;ENSG00000101639:ENST00000506447:exon18:c.G3018T:p.G1006G;ENSG00000101639:ENST00000589596:exon15:c.G2241T:p.G747G;ENSG00000101639:ENST00000430049:exon8:c.G1593T:p.G531G;	0.234879419216978	0.384
18	13052919	T	A	18	13052920	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.T3019A:p.C1007S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.T1819A:p.C607S;ENSG00000101639:ENST00000325971:exon16:c.T1231A:p.C411S;ENSG00000101639:ENST00000506447:exon18:c.T3019A:p.C1007S;ENSG00000101639:ENST00000589596:exon15:c.T2242A:p.C748S;ENSG00000101639:ENST00000430049:exon8:c.T1594A:p.C532S;	2.35851322835694E-4	0.0
18	13052919	T	C	18	13052920	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.T3019C:p.C1007R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.T1819C:p.C607R;ENSG00000101639:ENST00000325971:exon16:c.T1231C:p.C411R;ENSG00000101639:ENST00000506447:exon18:c.T3019C:p.C1007R;ENSG00000101639:ENST00000589596:exon15:c.T2242C:p.C748R;ENSG00000101639:ENST00000430049:exon8:c.T1594C:p.C532R;	4.71437898735276E-4	0.082
18	13052919	T	G	18	13052920	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.T3019G:p.C1007G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.T1819G:p.C607G;ENSG00000101639:ENST00000325971:exon16:c.T1231G:p.C411G;ENSG00000101639:ENST00000506447:exon18:c.T3019G:p.C1007G;ENSG00000101639:ENST00000589596:exon15:c.T2242G:p.C748G;ENSG00000101639:ENST00000430049:exon8:c.T1594G:p.C532G;	4.15683237339707E-4	0.01
18	13053087	A	C	18	13053088	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.A3187C:p.K1063Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.A1987C:p.K663Q;ENSG00000101639:ENST00000325971:exon16:c.A1399C:p.K467Q;ENSG00000101639:ENST00000506447:exon18:c.A3187C:p.K1063Q;ENSG00000101639:ENST00000589596:exon15:c.A2410C:p.K804Q;ENSG00000101639:ENST00000430049:exon8:c.A1762C:p.K588Q;	7.02010262445671E-5	0.002
18	13053087	A	G	18	13053088	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.A3187G:p.K1063E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.A1987G:p.K663E;ENSG00000101639:ENST00000325971:exon16:c.A1399G:p.K467E;ENSG00000101639:ENST00000506447:exon18:c.A3187G:p.K1063E;ENSG00000101639:ENST00000589596:exon15:c.A2410G:p.K804E;ENSG00000101639:ENST00000430049:exon8:c.A1762G:p.K588E;	0.00416243106018553	0.148
18	13053087	A	T	18	13053088	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon18:c.A3187T:p.K1063X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon9:c.A1987T:p.K663X;ENSG00000101639:ENST00000325971:exon16:c.A1399T:p.K467X;ENSG00000101639:ENST00000506447:exon18:c.A3187T:p.K1063X;ENSG00000101639:ENST00000589596:exon15:c.A2410T:p.K804X;ENSG00000101639:ENST00000430049:exon8:c.A1762T:p.K588X;	0.698171879561411	0.626
18	13053088	A	C	18	13053089	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.A3188C:p.K1063T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.A1988C:p.K663T;ENSG00000101639:ENST00000325971:exon16:c.A1400C:p.K467T;ENSG00000101639:ENST00000506447:exon18:c.A3188C:p.K1063T;ENSG00000101639:ENST00000589596:exon15:c.A2411C:p.K804T;ENSG00000101639:ENST00000430049:exon8:c.A1763C:p.K588T;	0.99958779333744	0.966
18	13053088	A	G	18	13053089	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.A3188G:p.K1063R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.A1988G:p.K663R;ENSG00000101639:ENST00000325971:exon16:c.A1400G:p.K467R;ENSG00000101639:ENST00000506447:exon18:c.A3188G:p.K1063R;ENSG00000101639:ENST00000589596:exon15:c.A2411G:p.K804R;ENSG00000101639:ENST00000430049:exon8:c.A1763G:p.K588R;	0.999274202055983	0.98
18	13053088	A	T	18	13053089	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.A3188T:p.K1063M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.A1988T:p.K663M;ENSG00000101639:ENST00000325971:exon16:c.A1400T:p.K467M;ENSG00000101639:ENST00000506447:exon18:c.A3188T:p.K1063M;ENSG00000101639:ENST00000589596:exon15:c.A2411T:p.K804M;ENSG00000101639:ENST00000430049:exon8:c.A1763T:p.K588M;	0.999889880909037	0.972
18	13053089	G	A	18	13053090	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon18:c.G3189A:p.K1063K;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.G1989A:p.K663K;ENSG00000101639:ENST00000325971:exon16:c.G1401A:p.K467K;ENSG00000101639:ENST00000506447:exon18:c.G3189A:p.K1063K;ENSG00000101639:ENST00000589596:exon15:c.G2412A:p.K804K;ENSG00000101639:ENST00000430049:exon8:c.G1764A:p.K588K;	0.999948110526417	0.994
18	13053089	G	C	18	13053090	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.G3189C:p.K1063N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.G1989C:p.K663N;ENSG00000101639:ENST00000325971:exon16:c.G1401C:p.K467N;ENSG00000101639:ENST00000506447:exon18:c.G3189C:p.K1063N;ENSG00000101639:ENST00000589596:exon15:c.G2412C:p.K804N;ENSG00000101639:ENST00000430049:exon8:c.G1764C:p.K588N;	0.999997305513426	0.998
18	13053089	G	T	18	13053090	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon18:c.G3189T:p.K1063N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon9:c.G1989T:p.K663N;ENSG00000101639:ENST00000325971:exon16:c.G1401T:p.K467N;ENSG00000101639:ENST00000506447:exon18:c.G3189T:p.K1063N;ENSG00000101639:ENST00000589596:exon15:c.G2412T:p.K804N;ENSG00000101639:ENST00000430049:exon8:c.G1764T:p.K588N;	0.999986978124239	0.99
18	13053090	G	A	18	13053091	y	y	splicing	CEP192(NM_032142:exon18:c.3189+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1401+1G>A;ENST00000506447:exon18:c.3189+1G>A;ENST00000589596:exon15:c.2412+1G>A;ENST00000513432:exon13:c.2580+1G>A;ENST00000430049:exon8:c.1764+1G>A;ENST00000511820:exon8:c.1805+1G>A;ENST00000510237:exon9:c.1989+1G>A)	.	.	0.999986675681007	0.954
18	13053090	G	C	18	13053091	y	y	splicing	CEP192(NM_032142:exon18:c.3189+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1401+1G>C;ENST00000506447:exon18:c.3189+1G>C;ENST00000589596:exon15:c.2412+1G>C;ENST00000513432:exon13:c.2580+1G>C;ENST00000430049:exon8:c.1764+1G>C;ENST00000511820:exon8:c.1805+1G>C;ENST00000510237:exon9:c.1989+1G>C)	.	.	0.999986675681007	0.954
18	13053090	G	T	18	13053091	y	y	splicing	CEP192(NM_032142:exon18:c.3189+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1401+1G>T;ENST00000506447:exon18:c.3189+1G>T;ENST00000589596:exon15:c.2412+1G>T;ENST00000513432:exon13:c.2580+1G>T;ENST00000430049:exon8:c.1764+1G>T;ENST00000511820:exon8:c.1805+1G>T;ENST00000510237:exon9:c.1989+1G>T)	.	.	0.999986675681007	0.954
18	13053091	T	A	18	13053092	y	y	splicing	CEP192(NM_032142:exon18:c.3189+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1401+2T>A;ENST00000506447:exon18:c.3189+2T>A;ENST00000589596:exon15:c.2412+2T>A;ENST00000513432:exon13:c.2580+2T>A;ENST00000430049:exon8:c.1764+2T>A;ENST00000511820:exon8:c.1805+2T>A;ENST00000510237:exon9:c.1989+2T>A)	.	.	0.999989917668626	0.938
18	13053091	T	C	18	13053092	y	y	splicing	CEP192(NM_032142:exon18:c.3189+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1401+2T>C;ENST00000506447:exon18:c.3189+2T>C;ENST00000589596:exon15:c.2412+2T>C;ENST00000513432:exon13:c.2580+2T>C;ENST00000430049:exon8:c.1764+2T>C;ENST00000511820:exon8:c.1805+2T>C;ENST00000510237:exon9:c.1989+2T>C)	.	.	0.999927254940125	0.868
18	13053091	T	G	18	13053092	y	y	splicing	CEP192(NM_032142:exon18:c.3189+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon16:c.1401+2T>G;ENST00000506447:exon18:c.3189+2T>G;ENST00000589596:exon15:c.2412+2T>G;ENST00000513432:exon13:c.2580+2T>G;ENST00000430049:exon8:c.1764+2T>G;ENST00000511820:exon8:c.1805+2T>G;ENST00000510237:exon9:c.1989+2T>G)	.	.	0.999989917668626	0.938
18	13053092	G	A	18	13053093	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.5956323551451E-4	0.268
18	13053092	G	C	18	13053093	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0394125074352832	0.428
18	13053092	G	T	18	13053093	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0114368860554234	0.344
18	13053093	G	A	18	13053094	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.39544242461347E-4	0.088
18	13053093	G	C	18	13053094	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42741711473566E-4	0.046
18	13053093	G	T	18	13053094	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.45224412208176E-4	0.05
18	13053094	G	A	18	13053095	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99543616132105	0.796
18	13053094	G	C	18	13053095	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.995477263079691	0.87
18	13053094	G	T	18	13053095	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999943414682569	0.928
18	13053095	C	A	18	13053096	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.55311428731916E-4	0.034
18	13053095	C	G	18	13053096	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.72817121221426E-4	0.058
18	13053095	C	T	18	13053096	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.48915005558725E-5	0.002
18	13053096	A	C	18	13053097	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.03422785295362E-4	0.004
18	13053096	A	G	18	13053097	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0041162077533709	0.038
18	13053096	A	T	18	13053097	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00338367670535669	0.026
18	13053097	G	A	18	13053098	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.8332867900719E-4	0.004
18	13053097	G	C	18	13053098	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.29410018398506E-4	0.002
18	13053097	G	T	18	13053098	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.14166662079152E-4	0.0
18	13055767	T	A	18	13055768	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999806511684456	0.972
18	13055767	T	C	18	13055768	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.54661997266368E-4	0.062
18	13055767	T	G	18	13055768	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0171538282349937	0.304
18	13055768	G	A	18	13055769	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.77865758287227E-4	0.026
18	13055768	G	C	18	13055769	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.33684777350849E-5	0.0
18	13055768	G	T	18	13055769	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.36261919067823E-5	0.0
18	13055769	T	A	18	13055770	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.200721480448133	0.452
18	13055769	T	C	18	13055770	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00298413745463396	0.084
18	13055769	T	G	18	13055770	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.110851828455725	0.388
18	13055770	T	A	18	13055771	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998127749008995	0.934
18	13055770	T	C	18	13055771	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.09374871594589E-4	0.012
18	13055770	T	G	18	13055771	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0280796616196722	0.196
18	13055771	G	A	18	13055772	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.31580470205068E-4	0.058
18	13055771	G	C	18	13055772	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.35586284775564E-5	0.0
18	13055771	G	T	18	13055772	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.43637917480172E-5	0.0
18	13055772	C	A	18	13055773	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00118048035247192	0.066
18	13055772	C	G	18	13055773	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.63066566571341E-4	0.046
18	13055772	C	T	18	13055773	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.24281923091725E-5	0.0
18	13055773	A	C	18	13055774	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.06243340441382E-4	0.032
18	13055773	A	G	18	13055774	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.27876195257095E-4	0.004
18	13055773	A	T	18	13055774	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.50722934918504E-4	0.026
18	13055774	C	A	18	13055775	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00252297003678257	0.08
18	13055774	C	G	18	13055775	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999916557813385	0.978
18	13055774	C	T	18	13055775	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.05607319663491E-4	0.044
18	13055775	T	A	18	13055776	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.02557574213788E-5	0.004
18	13055775	T	C	18	13055776	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.82721288487526E-5	0.014
18	13055775	T	G	18	13055776	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.73060995140038E-4	0.048
18	13055776	C	A	18	13055777	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.988856521612254	0.87
18	13055776	C	G	18	13055777	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99867887587468	0.728
18	13055776	C	T	18	13055777	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0016085951796298	0.092
18	13055777	A	C	18	13055778	y	y	splicing	CEP192(NM_032142:exon19:c.3190-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.1402-2A>C;ENST00000506447:exon19:c.3190-2A>C;ENST00000589596:exon16:c.2413-2A>C;ENST00000513432:exon14:c.2581-2A>C;ENST00000430049:exon9:c.1765-2A>C;ENST00000511820:exon9:c.1806-2A>C;ENST00000510237:exon10:c.1990-2A>C)	.	.	0.999993305072762	0.93
18	13055777	A	G	18	13055778	y	y	splicing	CEP192(NM_032142:exon19:c.3190-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.1402-2A>G;ENST00000506447:exon19:c.3190-2A>G;ENST00000589596:exon16:c.2413-2A>G;ENST00000513432:exon14:c.2581-2A>G;ENST00000430049:exon9:c.1765-2A>G;ENST00000511820:exon9:c.1806-2A>G;ENST00000510237:exon10:c.1990-2A>G)	.	.	0.999993305072762	0.924
18	13055777	A	T	18	13055778	y	y	splicing	CEP192(NM_032142:exon19:c.3190-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.1402-2A>T;ENST00000506447:exon19:c.3190-2A>T;ENST00000589596:exon16:c.2413-2A>T;ENST00000513432:exon14:c.2581-2A>T;ENST00000430049:exon9:c.1765-2A>T;ENST00000511820:exon9:c.1806-2A>T;ENST00000510237:exon10:c.1990-2A>T)	.	.	0.999993305072762	0.932
18	13055778	G	A	18	13055779	y	y	splicing	CEP192(NM_032142:exon19:c.3190-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.1402-1G>A;ENST00000506447:exon19:c.3190-1G>A;ENST00000589596:exon16:c.2413-1G>A;ENST00000513432:exon14:c.2581-1G>A;ENST00000430049:exon9:c.1765-1G>A;ENST00000511820:exon9:c.1806-1G>A;ENST00000510237:exon10:c.1990-1G>A)	.	.	0.999990938371702	0.94
18	13055778	G	C	18	13055779	y	y	splicing	CEP192(NM_032142:exon19:c.3190-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.1402-1G>C;ENST00000506447:exon19:c.3190-1G>C;ENST00000589596:exon16:c.2413-1G>C;ENST00000513432:exon14:c.2581-1G>C;ENST00000430049:exon9:c.1765-1G>C;ENST00000511820:exon9:c.1806-1G>C;ENST00000510237:exon10:c.1990-1G>C)	.	.	0.999990938371702	0.94
18	13055778	G	T	18	13055779	y	y	splicing	CEP192(NM_032142:exon19:c.3190-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.1402-1G>T;ENST00000506447:exon19:c.3190-1G>T;ENST00000589596:exon16:c.2413-1G>T;ENST00000513432:exon14:c.2581-1G>T;ENST00000430049:exon9:c.1765-1G>T;ENST00000511820:exon9:c.1806-1G>T;ENST00000510237:exon10:c.1990-1G>T)	.	.	0.999990938371702	0.94
18	13055779	A	C	18	13055780	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.A3190C:p.S1064R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.A1990C:p.S664R;ENSG00000101639:ENST00000325971:exon17:c.A1402C:p.S468R;ENSG00000101639:ENST00000506447:exon19:c.A3190C:p.S1064R;ENSG00000101639:ENST00000589596:exon16:c.A2413C:p.S805R;ENSG00000101639:ENST00000430049:exon9:c.A1765C:p.S589R;	0.0170256413005233	0.17
18	13055779	A	G	18	13055780	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.A3190G:p.S1064G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.A1990G:p.S664G;ENSG00000101639:ENST00000325971:exon17:c.A1402G:p.S468G;ENSG00000101639:ENST00000506447:exon19:c.A3190G:p.S1064G;ENSG00000101639:ENST00000589596:exon16:c.A2413G:p.S805G;ENSG00000101639:ENST00000430049:exon9:c.A1765G:p.S589G;	1.42694040756883E-4	0.012
18	13055779	A	T	18	13055780	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.A3190T:p.S1064C;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.A1990T:p.S664C;ENSG00000101639:ENST00000325971:exon17:c.A1402T:p.S468C;ENSG00000101639:ENST00000506447:exon19:c.A3190T:p.S1064C;ENSG00000101639:ENST00000589596:exon16:c.A2413T:p.S805C;ENSG00000101639:ENST00000430049:exon9:c.A1765T:p.S589C;	0.0202029320238649	0.13
18	13055780	G	A	18	13055781	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G3191A:p.S1064N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G1991A:p.S664N;ENSG00000101639:ENST00000325971:exon17:c.G1403A:p.S468N;ENSG00000101639:ENST00000506447:exon19:c.G3191A:p.S1064N;ENSG00000101639:ENST00000589596:exon16:c.G2414A:p.S805N;ENSG00000101639:ENST00000430049:exon9:c.G1766A:p.S589N;	0.888738638062803	0.496
18	13055780	G	C	18	13055781	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G3191C:p.S1064T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G1991C:p.S664T;ENSG00000101639:ENST00000325971:exon17:c.G1403C:p.S468T;ENSG00000101639:ENST00000506447:exon19:c.G3191C:p.S1064T;ENSG00000101639:ENST00000589596:exon16:c.G2414C:p.S805T;ENSG00000101639:ENST00000430049:exon9:c.G1766C:p.S589T;	0.84781031021226	0.676
18	13055780	G	T	18	13055781	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G3191T:p.S1064I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G1991T:p.S664I;ENSG00000101639:ENST00000325971:exon17:c.G1403T:p.S468I;ENSG00000101639:ENST00000506447:exon19:c.G3191T:p.S1064I;ENSG00000101639:ENST00000589596:exon16:c.G2414T:p.S805I;ENSG00000101639:ENST00000430049:exon9:c.G1766T:p.S589I;	0.89990180584009	0.686
18	13056695	T	A	18	13056696	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon19:c.T4106A:p.L1369X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon10:c.T2906A:p.L969X;ENSG00000101639:ENST00000325971:exon17:c.T2318A:p.L773X;ENSG00000101639:ENST00000506447:exon19:c.T4106A:p.L1369X;ENSG00000101639:ENST00000589596:exon16:c.T3329A:p.L1110X;ENSG00000101639:ENST00000430049:exon9:c.T2681A:p.L894X;	0.00131649948963749	0.426
18	13056695	T	C	18	13056696	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.T4106C:p.L1369S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.T2906C:p.L969S;ENSG00000101639:ENST00000325971:exon17:c.T2318C:p.L773S;ENSG00000101639:ENST00000506447:exon19:c.T4106C:p.L1369S;ENSG00000101639:ENST00000589596:exon16:c.T3329C:p.L1110S;ENSG00000101639:ENST00000430049:exon9:c.T2681C:p.L894S;	1.63369835542136E-4	0.01
18	13056695	T	G	18	13056696	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.T4106G:p.L1369W;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.T2906G:p.L969W;ENSG00000101639:ENST00000325971:exon17:c.T2318G:p.L773W;ENSG00000101639:ENST00000506447:exon19:c.T4106G:p.L1369W;ENSG00000101639:ENST00000589596:exon16:c.T3329G:p.L1110W;ENSG00000101639:ENST00000430049:exon9:c.T2681G:p.L894W;	0.0010639217505339	0.204
18	13056696	G	A	18	13056697	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon19:c.G4107A:p.L1369L;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G2907A:p.L969L;ENSG00000101639:ENST00000325971:exon17:c.G2319A:p.L773L;ENSG00000101639:ENST00000506447:exon19:c.G4107A:p.L1369L;ENSG00000101639:ENST00000589596:exon16:c.G3330A:p.L1110L;ENSG00000101639:ENST00000430049:exon9:c.G2682A:p.L894L;	8.48907250247641E-5	0.056
18	13056696	G	C	18	13056697	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G4107C:p.L1369F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G2907C:p.L969F;ENSG00000101639:ENST00000325971:exon17:c.G2319C:p.L773F;ENSG00000101639:ENST00000506447:exon19:c.G4107C:p.L1369F;ENSG00000101639:ENST00000589596:exon16:c.G3330C:p.L1110F;ENSG00000101639:ENST00000430049:exon9:c.G2682C:p.L894F;	1.9081068984873E-5	0.004
18	13056696	G	T	18	13056697	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G4107T:p.L1369F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G2907T:p.L969F;ENSG00000101639:ENST00000325971:exon17:c.G2319T:p.L773F;ENSG00000101639:ENST00000506447:exon19:c.G4107T:p.L1369F;ENSG00000101639:ENST00000589596:exon16:c.G3330T:p.L1110F;ENSG00000101639:ENST00000430049:exon9:c.G2682T:p.L894F;	3.65516128858337E-5	0.002
18	13056697	G	A	18	13056698	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G4108A:p.G1370R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G2908A:p.G970R;ENSG00000101639:ENST00000325971:exon17:c.G2320A:p.G774R;ENSG00000101639:ENST00000506447:exon19:c.G4108A:p.G1370R;ENSG00000101639:ENST00000589596:exon16:c.G3331A:p.G1111R;ENSG00000101639:ENST00000430049:exon9:c.G2683A:p.G895R;	0.999984877784921	1.0
18	13056697	G	C	18	13056698	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G4108C:p.G1370R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G2908C:p.G970R;ENSG00000101639:ENST00000325971:exon17:c.G2320C:p.G774R;ENSG00000101639:ENST00000506447:exon19:c.G4108C:p.G1370R;ENSG00000101639:ENST00000589596:exon16:c.G3331C:p.G1111R;ENSG00000101639:ENST00000430049:exon9:c.G2683C:p.G895R;	0.999991964345461	0.994
18	13056697	G	T	18	13056698	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon19:c.G4108T:p.G1370W;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon10:c.G2908T:p.G970W;ENSG00000101639:ENST00000325971:exon17:c.G2320T:p.G774W;ENSG00000101639:ENST00000506447:exon19:c.G4108T:p.G1370W;ENSG00000101639:ENST00000589596:exon16:c.G3331T:p.G1111W;ENSG00000101639:ENST00000430049:exon9:c.G2683T:p.G895W;	0.999973644356974	0.998
18	13056698	G	A	18	13056699	y	y	splicing	CEP192(NM_032142:exon19:c.4108+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.2320+1G>A;ENST00000506447:exon19:c.4108+1G>A;ENST00000589596:exon16:c.3331+1G>A;ENST00000513432:exon14:c.3499+1G>A;ENST00000430049:exon9:c.2683+1G>A;ENST00000511820:exon9:c.2724+1G>A;ENST00000510237:exon10:c.2908+1G>A;ENST00000585938:exon1:c.68+1G>A)	.	.	0.999986675681007	0.932
18	13056698	G	C	18	13056699	y	y	splicing	CEP192(NM_032142:exon19:c.4108+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.2320+1G>C;ENST00000506447:exon19:c.4108+1G>C;ENST00000589596:exon16:c.3331+1G>C;ENST00000513432:exon14:c.3499+1G>C;ENST00000430049:exon9:c.2683+1G>C;ENST00000511820:exon9:c.2724+1G>C;ENST00000510237:exon10:c.2908+1G>C;ENST00000585938:exon1:c.68+1G>C)	.	.	0.999986675681007	0.932
18	13056698	G	T	18	13056699	y	y	splicing	CEP192(NM_032142:exon19:c.4108+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.2320+1G>T;ENST00000506447:exon19:c.4108+1G>T;ENST00000589596:exon16:c.3331+1G>T;ENST00000513432:exon14:c.3499+1G>T;ENST00000430049:exon9:c.2683+1G>T;ENST00000511820:exon9:c.2724+1G>T;ENST00000510237:exon10:c.2908+1G>T;ENST00000585938:exon1:c.68+1G>T)	.	.	0.999986675681007	0.93
18	13056699	T	A	18	13056700	y	y	splicing	CEP192(NM_032142:exon19:c.4108+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.2320+2T>A;ENST00000506447:exon19:c.4108+2T>A;ENST00000589596:exon16:c.3331+2T>A;ENST00000513432:exon14:c.3499+2T>A;ENST00000430049:exon9:c.2683+2T>A;ENST00000511820:exon9:c.2724+2T>A;ENST00000510237:exon10:c.2908+2T>A;ENST00000585938:exon1:c.68+2T>A)	.	.	0.999989917668626	0.926
18	13056699	T	C	18	13056700	y	y	splicing	CEP192(NM_032142:exon19:c.4108+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.2320+2T>C;ENST00000506447:exon19:c.4108+2T>C;ENST00000589596:exon16:c.3331+2T>C;ENST00000513432:exon14:c.3499+2T>C;ENST00000430049:exon9:c.2683+2T>C;ENST00000511820:exon9:c.2724+2T>C;ENST00000510237:exon10:c.2908+2T>C;ENST00000585938:exon1:c.68+2T>C)	.	.	0.999941273443095	0.892
18	13056699	T	G	18	13056700	y	y	splicing	CEP192(NM_032142:exon19:c.4108+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon17:c.2320+2T>G;ENST00000506447:exon19:c.4108+2T>G;ENST00000589596:exon16:c.3331+2T>G;ENST00000513432:exon14:c.3499+2T>G;ENST00000430049:exon9:c.2683+2T>G;ENST00000511820:exon9:c.2724+2T>G;ENST00000510237:exon10:c.2908+2T>G;ENST00000585938:exon1:c.68+2T>G)	.	.	0.999989917668626	0.928
18	13056700	A	C	18	13056701	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999598016183163	0.912
18	13056700	A	G	18	13056701	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.048414454964195	0.394
18	13056700	A	T	18	13056701	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999714406901319	0.92
18	13056701	A	C	18	13056702	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.992600526805663	0.81
18	13056701	A	G	18	13056702	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.991029533906439	0.76
18	13056701	A	T	18	13056702	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.97561413912752	0.704
18	13056702	G	A	18	13056703	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999571870376758	0.94
18	13056702	G	C	18	13056703	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999919867793249	0.916
18	13056702	G	T	18	13056703	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999610481596167	0.908
18	13056703	A	C	18	13056704	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.42337060906242E-4	0.032
18	13056703	A	G	18	13056704	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.12861918318419E-5	0.0
18	13056703	A	T	18	13056704	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.11540588288166E-4	0.022
18	13056704	T	A	18	13056705	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.8159723025332E-4	0.026
18	13056704	T	C	18	13056705	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.8159723025332E-4	0.03
18	13056704	T	G	18	13056705	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.8159723025332E-4	0.028
18	13056705	G	A	18	13056706	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.13366033142255E-5	0.004
18	13056705	G	C	18	13056706	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.37932415206323E-5	0.0
18	13056705	G	T	18	13056706	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.64692724560774E-5	0.0
18	13057572	A	C	18	13057573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.81829945220082E-6	0.0
18	13057572	A	G	18	13057573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.24699091122627E-5	0.002
18	13057572	A	T	18	13057573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.47226774734786E-5	0.004
18	13057573	T	A	18	13057574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.387757627593697	0.42
18	13057573	T	C	18	13057574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0018267172311289	0.098
18	13057573	T	G	18	13057574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999732540887938	0.95
18	13057574	T	A	18	13057575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.157018852200253	0.254
18	13057574	T	C	18	13057575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.01803235152398E-5	0.002
18	13057574	T	G	18	13057575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00654498158481282	0.18
18	13057575	C	A	18	13057576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.35645756366814E-4	0.024
18	13057575	C	G	18	13057576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.15391424016601E-4	0.014
18	13057575	C	T	18	13057576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.07191032495808E-5	0.0
18	13057576	T	A	18	13057577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0312369351329094	0.162
18	13057576	T	C	18	13057577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.01777290171679E-5	0.0
18	13057576	T	G	18	13057577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00284827564088384	0.192
18	13057577	C	A	18	13057578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.07558313587732E-4	0.088
18	13057577	C	G	18	13057578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.55157174383262E-4	0.05
18	13057577	C	T	18	13057578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.28282318934274E-5	0.0
18	13057578	A	C	18	13057579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.06133057478427E-5	0.008
18	13057578	A	G	18	13057579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.40219008865329E-4	0.0
18	13057578	A	T	18	13057579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.28184111890689E-5	0.0
18	13057579	C	A	18	13057580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.76023530793662E-5	0.042
18	13057579	C	G	18	13057580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999338512476517	0.928
18	13057579	C	T	18	13057580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.9608596200093E-5	0.0
18	13057580	C	A	18	13057581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.55896762364023E-5	0.004
18	13057580	C	G	18	13057581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.61940258936446E-5	0.006
18	13057580	C	T	18	13057581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.55896762364023E-5	0.004
18	13057581	C	A	18	13057582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.921959689939109	0.676
18	13057581	C	G	18	13057582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999355142108147	0.928
18	13057581	C	T	18	13057582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.40398885955185E-4	0.096
18	13057582	A	C	18	13057583	y	y	splicing	CEP192(NM_032142:exon20:c.4109-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2321-2A>C;ENST00000506447:exon20:c.4109-2A>C;ENST00000589596:exon17:c.3332-2A>C;ENST00000513432:exon15:c.3500-2A>C;ENST00000430049:exon10:c.2684-2A>C;ENST00000511820:exon10:c.2725-2A>C;ENST00000510237:exon11:c.2909-2A>C;ENST00000585938:exon2:c.69-2A>C)	.	.	0.999971317418422	0.892
18	13057582	A	G	18	13057583	y	y	splicing	CEP192(NM_032142:exon20:c.4109-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2321-2A>G;ENST00000506447:exon20:c.4109-2A>G;ENST00000589596:exon17:c.3332-2A>G;ENST00000513432:exon15:c.3500-2A>G;ENST00000430049:exon10:c.2684-2A>G;ENST00000511820:exon10:c.2725-2A>G;ENST00000510237:exon11:c.2909-2A>G;ENST00000585938:exon2:c.69-2A>G)	.	.	0.999971317418422	0.892
18	13057582	A	T	18	13057583	y	y	splicing	CEP192(NM_032142:exon20:c.4109-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2321-2A>T;ENST00000506447:exon20:c.4109-2A>T;ENST00000589596:exon17:c.3332-2A>T;ENST00000513432:exon15:c.3500-2A>T;ENST00000430049:exon10:c.2684-2A>T;ENST00000511820:exon10:c.2725-2A>T;ENST00000510237:exon11:c.2909-2A>T;ENST00000585938:exon2:c.69-2A>T)	.	.	0.999964896440643	0.93
18	13057583	G	A	18	13057584	y	y	splicing	CEP192(NM_032142:exon20:c.4109-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2321-1G>A;ENST00000506447:exon20:c.4109-1G>A;ENST00000589596:exon17:c.3332-1G>A;ENST00000513432:exon15:c.3500-1G>A;ENST00000430049:exon10:c.2684-1G>A;ENST00000511820:exon10:c.2725-1G>A;ENST00000510237:exon11:c.2909-1G>A;ENST00000585938:exon2:c.69-1G>A)	.	.	0.999956786857988	0.938
18	13057583	G	C	18	13057584	y	y	splicing	CEP192(NM_032142:exon20:c.4109-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2321-1G>C;ENST00000506447:exon20:c.4109-1G>C;ENST00000589596:exon17:c.3332-1G>C;ENST00000513432:exon15:c.3500-1G>C;ENST00000430049:exon10:c.2684-1G>C;ENST00000511820:exon10:c.2725-1G>C;ENST00000510237:exon11:c.2909-1G>C;ENST00000585938:exon2:c.69-1G>C)	.	.	0.999955279531929	0.936
18	13057583	G	T	18	13057584	y	y	splicing	CEP192(NM_032142:exon20:c.4109-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2321-1G>T;ENST00000506447:exon20:c.4109-1G>T;ENST00000589596:exon17:c.3332-1G>T;ENST00000513432:exon15:c.3500-1G>T;ENST00000430049:exon10:c.2684-1G>T;ENST00000511820:exon10:c.2725-1G>T;ENST00000510237:exon11:c.2909-1G>T;ENST00000585938:exon2:c.69-1G>T)	.	.	0.999956786857988	0.938
18	13057584	G	A	18	13057585	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.G4109A:p.G1370E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G2909A:p.G970E;ENSG00000101639:ENST00000325971:exon18:c.G2321A:p.G774E;ENSG00000101639:ENST00000506447:exon20:c.G4109A:p.G1370E;ENSG00000101639:ENST00000589596:exon17:c.G3332A:p.G1111E;ENSG00000101639:ENST00000430049:exon10:c.G2684A:p.G895E;	0.0198957366022496	0.216
18	13057584	G	C	18	13057585	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.G4109C:p.G1370A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G2909C:p.G970A;ENSG00000101639:ENST00000325971:exon18:c.G2321C:p.G774A;ENSG00000101639:ENST00000506447:exon20:c.G4109C:p.G1370A;ENSG00000101639:ENST00000589596:exon17:c.G3332C:p.G1111A;ENSG00000101639:ENST00000430049:exon10:c.G2684C:p.G895A;	0.0797193390901354	0.378
18	13057584	G	T	18	13057585	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.G4109T:p.G1370V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G2909T:p.G970V;ENSG00000101639:ENST00000325971:exon18:c.G2321T:p.G774V;ENSG00000101639:ENST00000506447:exon20:c.G4109T:p.G1370V;ENSG00000101639:ENST00000589596:exon17:c.G3332T:p.G1111V;ENSG00000101639:ENST00000430049:exon10:c.G2684T:p.G895V;	0.728354253772513	0.676
18	13057585	G	A	18	13057586	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon20:c.G4110A:p.G1370G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G2910A:p.G970G;ENSG00000101639:ENST00000325971:exon18:c.G2322A:p.G774G;ENSG00000101639:ENST00000506447:exon20:c.G4110A:p.G1370G;ENSG00000101639:ENST00000589596:exon17:c.G3333A:p.G1111G;ENSG00000101639:ENST00000430049:exon10:c.G2685A:p.G895G;	3.28076025333298E-5	0.006
18	13057585	G	C	18	13057586	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon20:c.G4110C:p.G1370G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G2910C:p.G970G;ENSG00000101639:ENST00000325971:exon18:c.G2322C:p.G774G;ENSG00000101639:ENST00000506447:exon20:c.G4110C:p.G1370G;ENSG00000101639:ENST00000589596:exon17:c.G3333C:p.G1111G;ENSG00000101639:ENST00000430049:exon10:c.G2685C:p.G895G;	2.36258706183667E-5	0.002
18	13057585	G	T	18	13057586	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon20:c.G4110T:p.G1370G;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G2910T:p.G970G;ENSG00000101639:ENST00000325971:exon18:c.G2322T:p.G774G;ENSG00000101639:ENST00000506447:exon20:c.G4110T:p.G1370G;ENSG00000101639:ENST00000589596:exon17:c.G3333T:p.G1111G;ENSG00000101639:ENST00000430049:exon10:c.G2685T:p.G895G;	5.4783269126137E-5	0.006
18	13057730	A	C	18	13057731	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.A4255C:p.K1419Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.A3055C:p.K1019Q;ENSG00000101639:ENST00000325971:exon18:c.A2467C:p.K823Q;ENSG00000101639:ENST00000506447:exon20:c.A4255C:p.K1419Q;ENSG00000101639:ENST00000589596:exon17:c.A3478C:p.K1160Q;ENSG00000101639:ENST00000430049:exon10:c.A2830C:p.K944Q;	0.161554211000701	0.536
18	13057730	A	G	18	13057731	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.A4255G:p.K1419E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.A3055G:p.K1019E;ENSG00000101639:ENST00000325971:exon18:c.A2467G:p.K823E;ENSG00000101639:ENST00000506447:exon20:c.A4255G:p.K1419E;ENSG00000101639:ENST00000589596:exon17:c.A3478G:p.K1160E;ENSG00000101639:ENST00000430049:exon10:c.A2830G:p.K944E;	0.265240928714817	0.436
18	13057730	A	T	18	13057731	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon20:c.A4255T:p.K1419X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon11:c.A3055T:p.K1019X;ENSG00000101639:ENST00000325971:exon18:c.A2467T:p.K823X;ENSG00000101639:ENST00000506447:exon20:c.A4255T:p.K1419X;ENSG00000101639:ENST00000589596:exon17:c.A3478T:p.K1160X;ENSG00000101639:ENST00000430049:exon10:c.A2830T:p.K944X;	0.996921273956036	0.848
18	13057731	A	C	18	13057732	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.A4256C:p.K1419T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.A3056C:p.K1019T;ENSG00000101639:ENST00000325971:exon18:c.A2468C:p.K823T;ENSG00000101639:ENST00000506447:exon20:c.A4256C:p.K1419T;ENSG00000101639:ENST00000589596:exon17:c.A3479C:p.K1160T;ENSG00000101639:ENST00000430049:exon10:c.A2831C:p.K944T;	0.999781945803551	0.984
18	13057731	A	G	18	13057732	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.A4256G:p.K1419R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.A3056G:p.K1019R;ENSG00000101639:ENST00000325971:exon18:c.A2468G:p.K823R;ENSG00000101639:ENST00000506447:exon20:c.A4256G:p.K1419R;ENSG00000101639:ENST00000589596:exon17:c.A3479G:p.K1160R;ENSG00000101639:ENST00000430049:exon10:c.A2831G:p.K944R;	0.999960850456531	0.986
18	13057731	A	T	18	13057732	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.A4256T:p.K1419M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.A3056T:p.K1019M;ENSG00000101639:ENST00000325971:exon18:c.A2468T:p.K823M;ENSG00000101639:ENST00000506447:exon20:c.A4256T:p.K1419M;ENSG00000101639:ENST00000589596:exon17:c.A3479T:p.K1160M;ENSG00000101639:ENST00000430049:exon10:c.A2831T:p.K944M;	0.999974803656675	0.986
18	13057732	G	A	18	13057733	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon20:c.G4257A:p.K1419K;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G3057A:p.K1019K;ENSG00000101639:ENST00000325971:exon18:c.G2469A:p.K823K;ENSG00000101639:ENST00000506447:exon20:c.G4257A:p.K1419K;ENSG00000101639:ENST00000589596:exon17:c.G3480A:p.K1160K;ENSG00000101639:ENST00000430049:exon10:c.G2832A:p.K944K;	0.999984074609972	0.97
18	13057732	G	C	18	13057733	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.G4257C:p.K1419N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G3057C:p.K1019N;ENSG00000101639:ENST00000325971:exon18:c.G2469C:p.K823N;ENSG00000101639:ENST00000506447:exon20:c.G4257C:p.K1419N;ENSG00000101639:ENST00000589596:exon17:c.G3480C:p.K1160N;ENSG00000101639:ENST00000430049:exon10:c.G2832C:p.K944N;	0.999989417306118	0.998
18	13057732	G	T	18	13057733	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon20:c.G4257T:p.K1419N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon11:c.G3057T:p.K1019N;ENSG00000101639:ENST00000325971:exon18:c.G2469T:p.K823N;ENSG00000101639:ENST00000506447:exon20:c.G4257T:p.K1419N;ENSG00000101639:ENST00000589596:exon17:c.G3480T:p.K1160N;ENSG00000101639:ENST00000430049:exon10:c.G2832T:p.K944N;	0.999948534002794	0.994
18	13057733	G	A	18	13057734	y	y	splicing	CEP192(NM_032142:exon20:c.4257+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2469+1G>A;ENST00000506447:exon20:c.4257+1G>A;ENST00000589596:exon17:c.3480+1G>A;ENST00000430049:exon10:c.2832+1G>A;ENST00000511820:exon10:c.2873+1G>A;ENST00000510237:exon11:c.3057+1G>A;ENST00000585938:exon2:c.217+1G>A)	.	.	0.999916487880886	0.954
18	13057733	G	C	18	13057734	y	y	splicing	CEP192(NM_032142:exon20:c.4257+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2469+1G>C;ENST00000506447:exon20:c.4257+1G>C;ENST00000589596:exon17:c.3480+1G>C;ENST00000430049:exon10:c.2832+1G>C;ENST00000511820:exon10:c.2873+1G>C;ENST00000510237:exon11:c.3057+1G>C;ENST00000585938:exon2:c.217+1G>C)	.	.	0.999945520654368	0.948
18	13057733	G	T	18	13057734	y	y	splicing	CEP192(NM_032142:exon20:c.4257+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2469+1G>T;ENST00000506447:exon20:c.4257+1G>T;ENST00000589596:exon17:c.3480+1G>T;ENST00000430049:exon10:c.2832+1G>T;ENST00000511820:exon10:c.2873+1G>T;ENST00000510237:exon11:c.3057+1G>T;ENST00000585938:exon2:c.217+1G>T)	.	.	0.999916487880886	0.95
18	13057734	T	A	18	13057735	y	y	splicing	CEP192(NM_032142:exon20:c.4257+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2469+2T>A;ENST00000506447:exon20:c.4257+2T>A;ENST00000589596:exon17:c.3480+2T>A;ENST00000430049:exon10:c.2832+2T>A;ENST00000511820:exon10:c.2873+2T>A;ENST00000510237:exon11:c.3057+2T>A;ENST00000585938:exon2:c.217+2T>A)	.	.	0.999978156327223	0.934
18	13057734	T	C	18	13057735	y	y	splicing	CEP192(NM_032142:exon20:c.4257+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2469+2T>C;ENST00000506447:exon20:c.4257+2T>C;ENST00000589596:exon17:c.3480+2T>C;ENST00000430049:exon10:c.2832+2T>C;ENST00000511820:exon10:c.2873+2T>C;ENST00000510237:exon11:c.3057+2T>C;ENST00000585938:exon2:c.217+2T>C)	.	.	0.97679139632531	0.6
18	13057734	T	G	18	13057735	y	y	splicing	CEP192(NM_032142:exon20:c.4257+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon18:c.2469+2T>G;ENST00000506447:exon20:c.4257+2T>G;ENST00000589596:exon17:c.3480+2T>G;ENST00000430049:exon10:c.2832+2T>G;ENST00000511820:exon10:c.2873+2T>G;ENST00000510237:exon11:c.3057+2T>G;ENST00000585938:exon2:c.217+2T>G)	.	.	0.999978156327223	0.93
18	13057735	A	C	18	13057736	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.999604008159447	0.836
18	13057735	A	G	18	13057736	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.921211391337862	0.648
18	13057735	A	T	18	13057736	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.99960956132386	0.88
18	13057736	G	A	18	13057737	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.77588751604573E-4	0.136
18	13057736	G	C	18	13057737	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00158037141165805	0.186
18	13057736	G	T	18	13057737	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00203837109994625	0.088
18	13057737	C	A	18	13057738	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.297919892873E-5	0.008
18	13057737	C	G	18	13057738	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.48201237783284E-4	0.1
18	13057737	C	T	18	13057738	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.93993701244795E-4	0.002
18	13057738	T	A	18	13057739	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.16530636757114E-4	0.052
18	13057738	T	C	18	13057739	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00268609333405996	0.184
18	13057738	T	G	18	13057739	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.35484474674285E-4	0.056
18	13057739	T	A	18	13057740	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.54782190019833E-5	0.0
18	13057739	T	C	18	13057740	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	9.29405757193836E-5	0.0
18	13057739	T	G	18	13057740	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.86355290641647E-5	0.002
18	13057740	T	A	18	13057741	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.66531676029683E-5	0.0
18	13057740	T	C	18	13057741	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.34570777290627E-4	0.0
18	13057740	T	G	18	13057741	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	9.07583260718265E-5	0.002
18	13058281	T	A	18	13058282	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.49521429640616E-5	0.0
18	13058281	T	C	18	13058282	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.49521429640616E-5	0.0
18	13058281	T	G	18	13058282	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.49521429640616E-5	0.0
18	13058282	C	A	18	13058283	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.69930370103191E-5	0.0
18	13058282	C	G	18	13058283	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.69930370103191E-5	0.0
18	13058282	C	T	18	13058283	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.69930370103191E-5	0.004
18	13058283	C	A	18	13058284	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.10138825602451E-5	0.006
18	13058283	C	G	18	13058284	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.10138825602451E-5	0.002
18	13058283	C	T	18	13058284	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	5.8840742393182E-5	0.002
18	13058284	T	A	18	13058285	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.48293208623238E-5	0.0
18	13058284	T	C	18	13058285	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.48293208623238E-5	0.0
18	13058284	T	G	18	13058285	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.48293208623238E-5	0.0
18	13058285	G	A	18	13058286	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.35428655471156E-5	0.002
18	13058285	G	C	18	13058286	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	8.49702646665041E-5	0.02
18	13058285	G	T	18	13058286	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.35428655471156E-5	0.004
18	13058286	G	A	18	13058287	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.6128894829304E-5	0.002
18	13058286	G	C	18	13058287	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.6128894829304E-5	0.002
18	13058286	G	T	18	13058287	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.6128894829304E-5	0.006
18	13058287	T	A	18	13058288	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	9.16905836748777E-4	0.006
18	13058287	T	C	18	13058288	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.38118228050303E-4	0.006
18	13058287	T	G	18	13058288	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.38118228050303E-4	0.006
18	13058288	T	A	18	13058289	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.9469183429777E-5	0.0
18	13058288	T	C	18	13058289	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.17369458176992E-5	0.0
18	13058288	T	G	18	13058289	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.9469183429777E-5	0.0
18	13058289	A	C	18	13058290	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	9.54583771157E-5	0.0
18	13058289	A	G	18	13058290	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	9.54583771157E-5	0.002
18	13058289	A	T	18	13058290	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	5.25211152755068E-5	0.0
18	13058290	C	A	18	13058291	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	5.15941453541388E-5	0.004
18	13058290	C	G	18	13058291	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	5.15941453541388E-5	0.004
18	13058290	C	T	18	13058291	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	5.15941453541388E-5	0.004
18	13058291	A	C	18	13058292	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.218-2A>C)	.	.	5.69439264402225E-5	0.0
18	13058291	A	G	18	13058292	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.218-2A>G)	.	.	5.15941453541388E-5	0.0
18	13058291	A	T	18	13058292	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.218-2A>T)	.	.	5.69439264402225E-5	0.0
18	13058292	G	A	18	13058293	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.218-1G>A)	.	.	6.35428655471156E-5	0.004
18	13058292	G	C	18	13058293	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.218-1G>C)	.	.	6.35428655471156E-5	0.014
18	13058292	G	T	18	13058293	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.218-1G>T)	.	.	6.35428655471156E-5	0.004
18	13058293	T	A	18	13058294	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	5.05808194911997E-5	0.0
18	13058293	T	C	18	13058294	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	5.05808194911997E-5	0.006
18	13058293	T	G	18	13058294	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	5.05808194911997E-5	0.002
18	13058294	G	A	18	13058295	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	6.38113264713725E-5	0.012
18	13058294	G	C	18	13058295	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	6.38113264713725E-5	0.014
18	13058294	G	T	18	13058295	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	6.38113264713725E-5	0.012
18	13058432	C	A	18	13058433	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.0412441480395E-5	0.0
18	13058432	C	G	18	13058433	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.67121101084567E-5	0.0
18	13058432	C	T	18	13058433	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.0412441480395E-5	0.0
18	13058433	T	A	18	13058434	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.00882093215353E-4	0.036
18	13058433	T	C	18	13058434	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.22381014789039E-4	0.044
18	13058433	T	G	18	13058434	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.22381014789039E-4	0.044
18	13058434	G	A	18	13058435	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.80924373634625E-5	0.0
18	13058434	G	C	18	13058435	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	8.74094660865297E-5	0.0
18	13058434	G	T	18	13058435	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	8.74094660865297E-5	0.0
18	13058435	G	A	18	13058436	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.359+1G>A)	.	.	7.01315188657279E-5	0.0
18	13058435	G	C	18	13058436	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.359+1G>C)	.	.	6.35428655471156E-5	0.002
18	13058435	G	T	18	13058436	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.359+1G>T)	.	.	6.35428655471156E-5	0.0
18	13058436	T	A	18	13058437	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.359+2T>A)	.	.	1.40940918270023E-4	0.0
18	13058436	T	C	18	13058437	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.359+2T>C)	.	.	5.25211152755068E-5	0.0
18	13058436	T	G	18	13058437	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000585938:exon3:c.359+2T>G)	.	.	5.25211152755068E-5	0.0
18	13058437	A	C	18	13058438	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.04096031973704E-5	0.008
18	13058437	A	G	18	13058438	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.04096031973704E-5	0.008
18	13058437	A	T	18	13058438	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.04096031973704E-5	0.008
18	13058438	A	C	18	13058439	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.455930068921E-5	0.004
18	13058438	A	G	18	13058439	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.455930068921E-5	0.004
18	13058438	A	T	18	13058439	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.5908222467397E-5	0.004
18	13058439	A	C	18	13058440	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.09332237519757E-5	0.004
18	13058439	A	G	18	13058440	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.09332237519757E-5	0.004
18	13058439	A	T	18	13058440	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.09332237519757E-5	0.004
18	13058440	A	C	18	13058441	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.74241371184078E-5	0.004
18	13058440	A	G	18	13058441	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.74241371184078E-5	0.004
18	13058440	A	T	18	13058441	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.74241371184078E-5	0.004
18	13058441	T	A	18	13058442	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.58662744131228E-5	0.0
18	13058441	T	C	18	13058442	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.58662744131228E-5	0.0
18	13058441	T	G	18	13058442	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.58662744131228E-5	0.0
18	13058442	A	C	18	13058443	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.68736567082768E-5	0.004
18	13058442	A	G	18	13058443	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.68736567082768E-5	0.004
18	13058442	A	T	18	13058443	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.68736567082768E-5	0.004
18	13059069	T	A	18	13059070	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00647012317735997	0.224
18	13059069	T	C	18	13059070	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.64249008373306E-4	0.026
18	13059069	T	G	18	13059070	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00402254654943708	0.176
18	13059070	C	A	18	13059071	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00400252604188975	0.06
18	13059070	C	G	18	13059071	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.00670237255881E-4	0.01
18	13059070	C	T	18	13059071	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.55532661790437E-5	0.0
18	13059071	T	A	18	13059072	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.119199376930337	0.302
18	13059071	T	C	18	13059072	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	7.11269728510575E-4	0.01
18	13059071	T	G	18	13059072	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.0642653495960521	0.31
18	13059072	T	A	18	13059073	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00288803727122246	0.09
18	13059072	T	C	18	13059073	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.36795497161363E-4	0.034
18	13059072	T	G	18	13059073	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00171906350176018	0.122
18	13059073	T	A	18	13059074	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	8.76859686454433E-4	0.046
18	13059073	T	C	18	13059074	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.28603237892531E-5	0.0
18	13059073	T	G	18	13059074	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.57472578916559E-4	0.03
18	13059074	T	A	18	13059075	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00945577675147901	0.13
18	13059074	T	C	18	13059075	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.49225338010529E-4	0.008
18	13059074	T	G	18	13059075	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00426803033201881	0.15
18	13059075	T	A	18	13059076	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.650382118777227	0.358
18	13059075	T	C	18	13059076	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.00372801455156017	0.058
18	13059075	T	G	18	13059076	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.659940041709622	0.34
18	13059076	T	A	18	13059077	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.999517256609189	0.95
18	13059076	T	C	18	13059077	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	8.3435154807785E-4	0.016
18	13059076	T	G	18	13059077	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.142866356640884	0.356
18	13059077	G	A	18	13059078	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	4.91262973037873E-5	0.0
18	13059077	G	C	18	13059078	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.59392243968498E-5	0.0
18	13059077	G	T	18	13059078	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	6.83448410459771E-5	0.008
18	13059078	A	C	18	13059079	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.64810108207062E-4	0.112
18	13059078	A	G	18	13059079	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.476057919866242	0.38
18	13059078	A	T	18	13059079	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.66713257917703E-4	0.0
18	13059079	A	C	18	13059080	y	y	splicing	CEP192(NM_032142:exon21:c.4258-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon19:c.2470-2A>C;ENST00000506447:exon21:c.4258-2A>C;ENST00000589596:exon18:c.3481-2A>C;ENST00000430049:exon11:c.2833-2A>C;ENST00000511820:exon11:c.2874-2A>C;ENST00000510237:exon12:c.3058-2A>C;ENST00000585938:exon4:c.360-2A>C)	.	.	0.999989917668626	0.926
18	13059079	A	G	18	13059080	y	y	splicing	CEP192(NM_032142:exon21:c.4258-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon19:c.2470-2A>G;ENST00000506447:exon21:c.4258-2A>G;ENST00000589596:exon18:c.3481-2A>G;ENST00000430049:exon11:c.2833-2A>G;ENST00000511820:exon11:c.2874-2A>G;ENST00000510237:exon12:c.3058-2A>G;ENST00000585938:exon4:c.360-2A>G)	.	.	0.999989917668626	0.926
18	13059079	A	T	18	13059080	y	y	splicing	CEP192(NM_032142:exon21:c.4258-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon19:c.2470-2A>T;ENST00000506447:exon21:c.4258-2A>T;ENST00000589596:exon18:c.3481-2A>T;ENST00000430049:exon11:c.2833-2A>T;ENST00000511820:exon11:c.2874-2A>T;ENST00000510237:exon12:c.3058-2A>T;ENST00000585938:exon4:c.360-2A>T)	.	.	0.999989917668626	0.926
18	13059080	G	A	18	13059081	y	y	splicing	CEP192(NM_032142:exon21:c.4258-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon19:c.2470-1G>A;ENST00000506447:exon21:c.4258-1G>A;ENST00000589596:exon18:c.3481-1G>A;ENST00000430049:exon11:c.2833-1G>A;ENST00000511820:exon11:c.2874-1G>A;ENST00000510237:exon12:c.3058-1G>A;ENST00000585938:exon4:c.360-1G>A)	.	.	0.999986675681007	0.934
18	13059080	G	C	18	13059081	y	y	splicing	CEP192(NM_032142:exon21:c.4258-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon19:c.2470-1G>C;ENST00000506447:exon21:c.4258-1G>C;ENST00000589596:exon18:c.3481-1G>C;ENST00000430049:exon11:c.2833-1G>C;ENST00000511820:exon11:c.2874-1G>C;ENST00000510237:exon12:c.3058-1G>C;ENST00000585938:exon4:c.360-1G>C)	.	.	0.999986675681007	0.934
18	13059080	G	T	18	13059081	y	y	splicing	CEP192(NM_032142:exon21:c.4258-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon19:c.2470-1G>T;ENST00000506447:exon21:c.4258-1G>T;ENST00000589596:exon18:c.3481-1G>T;ENST00000430049:exon11:c.2833-1G>T;ENST00000511820:exon11:c.2874-1G>T;ENST00000510237:exon12:c.3058-1G>T;ENST00000585938:exon4:c.360-1G>T)	.	.	0.999986675681007	0.934
18	13059081	G	A	18	13059082	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.G4258A:p.V1420M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.G3058A:p.V1020M;ENSG00000101639:ENST00000325971:exon19:c.G2470A:p.V824M;ENSG00000101639:ENST00000506447:exon21:c.G4258A:p.V1420M;ENSG00000101639:ENST00000589596:exon18:c.G3481A:p.V1161M;ENSG00000101639:ENST00000430049:exon11:c.G2833A:p.V945M;	0.99944971477755	0.904
18	13059081	G	C	18	13059082	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.G4258C:p.V1420L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.G3058C:p.V1020L;ENSG00000101639:ENST00000325971:exon19:c.G2470C:p.V824L;ENSG00000101639:ENST00000506447:exon21:c.G4258C:p.V1420L;ENSG00000101639:ENST00000589596:exon18:c.G3481C:p.V1161L;ENSG00000101639:ENST00000430049:exon11:c.G2833C:p.V945L;	0.999750867363255	0.984
18	13059081	G	T	18	13059082	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.G4258T:p.V1420L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.G3058T:p.V1020L;ENSG00000101639:ENST00000325971:exon19:c.G2470T:p.V824L;ENSG00000101639:ENST00000506447:exon21:c.G4258T:p.V1420L;ENSG00000101639:ENST00000589596:exon18:c.G3481T:p.V1161L;ENSG00000101639:ENST00000430049:exon11:c.G2833T:p.V945L;	0.999746617992167	0.998
18	13059082	T	A	18	13059083	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.T4259A:p.V1420E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.T3059A:p.V1020E;ENSG00000101639:ENST00000325971:exon19:c.T2471A:p.V824E;ENSG00000101639:ENST00000506447:exon21:c.T4259A:p.V1420E;ENSG00000101639:ENST00000589596:exon18:c.T3482A:p.V1161E;ENSG00000101639:ENST00000430049:exon11:c.T2834A:p.V945E;	0.0364631266582215	0.256
18	13059082	T	C	18	13059083	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.T4259C:p.V1420A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.T3059C:p.V1020A;ENSG00000101639:ENST00000325971:exon19:c.T2471C:p.V824A;ENSG00000101639:ENST00000506447:exon21:c.T4259C:p.V1420A;ENSG00000101639:ENST00000589596:exon18:c.T3482C:p.V1161A;ENSG00000101639:ENST00000430049:exon11:c.T2834C:p.V945A;	0.0186424108264489	0.278
18	13059082	T	G	18	13059083	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.T4259G:p.V1420G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.T3059G:p.V1020G;ENSG00000101639:ENST00000325971:exon19:c.T2471G:p.V824G;ENSG00000101639:ENST00000506447:exon21:c.T4259G:p.V1420G;ENSG00000101639:ENST00000589596:exon18:c.T3482G:p.V1161G;ENSG00000101639:ENST00000430049:exon11:c.T2834G:p.V945G;	0.0131081075498138	0.216
18	13059309	G	A	18	13059310	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.G4486A:p.E1496K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.G3286A:p.E1096K;ENSG00000101639:ENST00000325971:exon19:c.G2698A:p.E900K;ENSG00000101639:ENST00000506447:exon21:c.G4486A:p.E1496K;ENSG00000101639:ENST00000589596:exon18:c.G3709A:p.E1237K;ENSG00000101639:ENST00000430049:exon11:c.G3061A:p.E1021K;	0.926507691744171	0.774
18	13059309	G	C	18	13059310	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.G4486C:p.E1496Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.G3286C:p.E1096Q;ENSG00000101639:ENST00000325971:exon19:c.G2698C:p.E900Q;ENSG00000101639:ENST00000506447:exon21:c.G4486C:p.E1496Q;ENSG00000101639:ENST00000589596:exon18:c.G3709C:p.E1237Q;ENSG00000101639:ENST00000430049:exon11:c.G3061C:p.E1021Q;	0.918140181502792	0.65
18	13059309	G	T	18	13059310	y	n	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon21:c.G4486T:p.E1496X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon12:c.G3286T:p.E1096X;ENSG00000101639:ENST00000325971:exon19:c.G2698T:p.E900X;ENSG00000101639:ENST00000506447:exon21:c.G4486T:p.E1496X;ENSG00000101639:ENST00000589596:exon18:c.G3709T:p.E1237X;ENSG00000101639:ENST00000430049:exon11:c.G3061T:p.E1021X;	0.987488253287522	0.782
18	13059310	A	C	18	13059311	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.A4487C:p.E1496A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.A3287C:p.E1096A;ENSG00000101639:ENST00000325971:exon19:c.A2699C:p.E900A;ENSG00000101639:ENST00000506447:exon21:c.A4487C:p.E1496A;ENSG00000101639:ENST00000589596:exon18:c.A3710C:p.E1237A;ENSG00000101639:ENST00000430049:exon11:c.A3062C:p.E1021A;	0.999738164877097	0.998
18	13059310	A	G	18	13059311	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.A4487G:p.E1496G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.A3287G:p.E1096G;ENSG00000101639:ENST00000325971:exon19:c.A2699G:p.E900G;ENSG00000101639:ENST00000506447:exon21:c.A4487G:p.E1496G;ENSG00000101639:ENST00000589596:exon18:c.A3710G:p.E1237G;ENSG00000101639:ENST00000430049:exon11:c.A3062G:p.E1021G;	0.999972634256144	0.988
18	13059310	A	T	18	13059311	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.A4487T:p.E1496V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.A3287T:p.E1096V;ENSG00000101639:ENST00000325971:exon19:c.A2699T:p.E900V;ENSG00000101639:ENST00000506447:exon21:c.A4487T:p.E1496V;ENSG00000101639:ENST00000589596:exon18:c.A3710T:p.E1237V;ENSG00000101639:ENST00000430049:exon11:c.A3062T:p.E1021V;	0.999944092438253	0.996
18	13059311	G	A	18	13059312	y	n	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon21:c.G4488A:p.E1496E;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.G3288A:p.E1096E;ENSG00000101639:ENST00000325971:exon19:c.G2700A:p.E900E;ENSG00000101639:ENST00000506447:exon21:c.G4488A:p.E1496E;ENSG00000101639:ENST00000589596:exon18:c.G3711A:p.E1237E;ENSG00000101639:ENST00000430049:exon11:c.G3063A:p.E1021E;	0.999941263515661	0.906
18	13059311	G	C	18	13059312	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.G4488C:p.E1496D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.G3288C:p.E1096D;ENSG00000101639:ENST00000325971:exon19:c.G2700C:p.E900D;ENSG00000101639:ENST00000506447:exon21:c.G4488C:p.E1496D;ENSG00000101639:ENST00000589596:exon18:c.G3711C:p.E1237D;ENSG00000101639:ENST00000430049:exon11:c.G3063C:p.E1021D;	0.999993907365763	0.992
18	13059311	G	T	18	13059312	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon21:c.G4488T:p.E1496D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon12:c.G3288T:p.E1096D;ENSG00000101639:ENST00000325971:exon19:c.G2700T:p.E900D;ENSG00000101639:ENST00000506447:exon21:c.G4488T:p.E1496D;ENSG00000101639:ENST00000589596:exon18:c.G3711T:p.E1237D;ENSG00000101639:ENST00000430049:exon11:c.G3063T:p.E1021D;	0.999971182520127	0.996
18	13059312	G	A	18	13059313	y	n	splicing	CEP192(NM_032142:exon21:c.4488+1G>A)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon19:c.2700+1G>A;ENST00000506447:exon21:c.4488+1G>A;ENST00000513432:exon15:c.5227+1G>A;ENST00000430049:exon11:c.3063+1G>A;ENST00000511820:exon11:c.3104+1G>A;ENST00000510237:exon12:c.3288+1G>A;ENST00000589993:exon1:c.131+1G>A)	unknown	UNKNOWN	0.999938990645747	0.948
18	13059312	G	C	18	13059313	y	n	splicing	CEP192(NM_032142:exon21:c.4488+1G>C)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon19:c.2700+1G>C;ENST00000506447:exon21:c.4488+1G>C;ENST00000513432:exon15:c.5227+1G>C;ENST00000430049:exon11:c.3063+1G>C;ENST00000511820:exon11:c.3104+1G>C;ENST00000510237:exon12:c.3288+1G>C;ENST00000589993:exon1:c.131+1G>C)	unknown	UNKNOWN	0.999938990645747	0.942
18	13059312	G	T	18	13059313	y	n	splicing	CEP192(NM_032142:exon21:c.4488+1G>T)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon19:c.2700+1G>T;ENST00000506447:exon21:c.4488+1G>T;ENST00000513432:exon15:c.5227+1G>T;ENST00000430049:exon11:c.3063+1G>T;ENST00000511820:exon11:c.3104+1G>T;ENST00000510237:exon12:c.3288+1G>T;ENST00000589993:exon1:c.131+1G>T)	unknown	UNKNOWN	0.999938990645747	0.934
18	13059313	T	A	18	13059314	y	n	splicing	CEP192(NM_032142:exon21:c.4488+2T>A)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon19:c.2700+2T>A;ENST00000506447:exon21:c.4488+2T>A;ENST00000513432:exon15:c.5227+2T>A;ENST00000430049:exon11:c.3063+2T>A;ENST00000511820:exon11:c.3104+2T>A;ENST00000510237:exon12:c.3288+2T>A;ENST00000589993:exon1:c.131+2T>A)	unknown	UNKNOWN	0.999978156327223	0.932
18	13059313	T	C	18	13059314	y	n	splicing	CEP192(NM_032142:exon21:c.4488+2T>C)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon19:c.2700+2T>C;ENST00000506447:exon21:c.4488+2T>C;ENST00000513432:exon15:c.5227+2T>C;ENST00000430049:exon11:c.3063+2T>C;ENST00000511820:exon11:c.3104+2T>C;ENST00000510237:exon12:c.3288+2T>C;ENST00000589993:exon1:c.131+2T>C)	unknown	UNKNOWN	0.976654866932081	0.558
18	13059313	T	G	18	13059314	y	n	splicing	CEP192(NM_032142:exon21:c.4488+2T>G)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon19:c.2700+2T>G;ENST00000506447:exon21:c.4488+2T>G;ENST00000513432:exon15:c.5227+2T>G;ENST00000430049:exon11:c.3063+2T>G;ENST00000511820:exon11:c.3104+2T>G;ENST00000510237:exon12:c.3288+2T>G;ENST00000589993:exon1:c.131+2T>G)	unknown	UNKNOWN	0.999970104448312	0.884
18	13059314	A	C	18	13059315	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99975847591412	0.918
18	13059314	A	G	18	13059315	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.946664306594779	0.674
18	13059314	A	T	18	13059315	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999854832690117	0.91
18	13059315	C	A	18	13059316	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.30614890030334E-5	0.01
18	13059315	C	G	18	13059316	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.18037176827202E-4	0.134
18	13059315	C	T	18	13059316	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.66878893045941E-4	0.046
18	13059316	C	A	18	13059317	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.67187317269377E-5	0.024
18	13059316	C	G	18	13059317	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.37439957267096E-4	0.082
18	13059316	C	T	18	13059317	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.07641274809071E-5	0.0
18	13059317	T	A	18	13059318	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.97478408039943E-4	0.066
18	13059317	T	C	18	13059318	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.04580935194589E-4	0.212
18	13059317	T	G	18	13059318	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.68932672587527E-4	0.112
18	13059318	G	A	18	13059319	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.44401018837748E-5	0.0
18	13059318	G	C	18	13059319	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.44401018837748E-5	0.0
18	13059318	G	T	18	13059319	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.50896685644909E-5	0.0
18	13059319	T	A	18	13059320	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.79777501040318E-5	0.0
18	13059319	T	C	18	13059320	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.14973724523395E-5	0.0
18	13059319	T	G	18	13059320	y	n	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.64847921541133E-5	0.014
18	13067818	T	A	18	13067819	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.089185605303832	0.566
18	13067818	T	C	18	13067819	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.54271563732863E-5	0.004
18	13067818	T	G	18	13067819	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00830388605931667	0.21
18	13067819	T	A	18	13067820	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.310362703998675	0.448
18	13067819	T	C	18	13067820	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00151818509831404	0.186
18	13067819	T	G	18	13067820	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.102213384395726	0.582
18	13067820	T	A	18	13067821	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999612363212241	0.96
18	13067820	T	C	18	13067821	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.15490325301701E-4	0.022
18	13067820	T	G	18	13067821	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0354516319684112	0.166
18	13067821	G	A	18	13067822	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.57541681915567E-5	0.004
18	13067821	G	C	18	13067822	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.59340463161002E-5	0.0
18	13067821	G	T	18	13067822	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.06481237244302E-5	0.0
18	13067822	A	C	18	13067823	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.49811543647207E-5	0.016
18	13067822	A	G	18	13067823	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.00799780963581E-5	0.006
18	13067822	A	T	18	13067823	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.49811543647207E-5	0.004
18	13067823	T	A	18	13067824	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0136013799350053	0.13
18	13067823	T	C	18	13067824	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.59160384576618E-5	0.0
18	13067823	T	G	18	13067824	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999939978237731	0.994
18	13067824	A	C	18	13067825	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.82716551287237E-4	0.004
18	13067824	A	G	18	13067825	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00112861705987351	0.07
18	13067824	A	T	18	13067825	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.82716551287237E-4	0.006
18	13067825	A	C	18	13067826	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.25007942951601E-5	0.002
18	13067825	A	G	18	13067826	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999380619278763	0.978
18	13067825	A	T	18	13067826	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.29838325658062E-4	0.104
18	13067826	T	A	18	13067827	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.14098107919797E-5	0.0
18	13067826	T	C	18	13067827	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.98331839705049E-5	0.008
18	13067826	T	G	18	13067827	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.913167006623261	0.856
18	13067827	T	A	18	13067828	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.657211007258815	0.48
18	13067827	T	C	18	13067828	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.73491922395932E-4	0.038
18	13067827	T	G	18	13067828	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999379420820486	0.776
18	13067828	A	C	18	13067829	y	y	splicing	CEP192(NM_032142:exon22:c.4489-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2701-2A>C;ENST00000506447:exon22:c.4489-2A>C;ENST00000513432:exon16:c.5228-2A>C;ENST00000430049:exon12:c.3064-2A>C;ENST00000511820:exon12:c.3105-2A>C;ENST00000510237:exon13:c.3289-2A>C;ENST00000589993:exon2:c.132-2A>C)	.	.	0.999988247793601	0.928
18	13067828	A	G	18	13067829	y	y	splicing	CEP192(NM_032142:exon22:c.4489-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2701-2A>G;ENST00000506447:exon22:c.4489-2A>G;ENST00000513432:exon16:c.5228-2A>G;ENST00000430049:exon12:c.3064-2A>G;ENST00000511820:exon12:c.3105-2A>G;ENST00000510237:exon13:c.3289-2A>G;ENST00000589993:exon2:c.132-2A>G)	.	.	0.999988247793601	0.928
18	13067828	A	T	18	13067829	y	y	splicing	CEP192(NM_032142:exon22:c.4489-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2701-2A>T;ENST00000506447:exon22:c.4489-2A>T;ENST00000513432:exon16:c.5228-2A>T;ENST00000430049:exon12:c.3064-2A>T;ENST00000511820:exon12:c.3105-2A>T;ENST00000510237:exon13:c.3289-2A>T;ENST00000589993:exon2:c.132-2A>T)	.	.	0.999988247793601	0.928
18	13067829	G	A	18	13067830	y	y	splicing	CEP192(NM_032142:exon22:c.4489-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2701-1G>A;ENST00000506447:exon22:c.4489-1G>A;ENST00000513432:exon16:c.5228-1G>A;ENST00000430049:exon12:c.3064-1G>A;ENST00000511820:exon12:c.3105-1G>A;ENST00000510237:exon13:c.3289-1G>A;ENST00000589993:exon2:c.132-1G>A)	.	.	0.999989263107695	0.936
18	13067829	G	C	18	13067830	y	y	splicing	CEP192(NM_032142:exon22:c.4489-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2701-1G>C;ENST00000506447:exon22:c.4489-1G>C;ENST00000513432:exon16:c.5228-1G>C;ENST00000430049:exon12:c.3064-1G>C;ENST00000511820:exon12:c.3105-1G>C;ENST00000510237:exon13:c.3289-1G>C;ENST00000589993:exon2:c.132-1G>C)	.	.	0.999989263107695	0.934
18	13067829	G	T	18	13067830	y	y	splicing	CEP192(NM_032142:exon22:c.4489-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2701-1G>T;ENST00000506447:exon22:c.4489-1G>T;ENST00000513432:exon16:c.5228-1G>T;ENST00000430049:exon12:c.3064-1G>T;ENST00000511820:exon12:c.3105-1G>T;ENST00000510237:exon13:c.3289-1G>T;ENST00000589993:exon2:c.132-1G>T)	.	.	0.999989263107695	0.936
18	13067830	G	A	18	13067831	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.G4489A:p.V1497I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.G3289A:p.V1097I;ENSG00000101639:ENST00000325971:exon20:c.G2701A:p.V901I;ENSG00000101639:ENST00000506447:exon22:c.G4489A:p.V1497I;ENSG00000101639:ENST00000430049:exon12:c.G3064A:p.V1022I;	0.781004773692756	0.51
18	13067830	G	C	18	13067831	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.G4489C:p.V1497L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.G3289C:p.V1097L;ENSG00000101639:ENST00000325971:exon20:c.G2701C:p.V901L;ENSG00000101639:ENST00000506447:exon22:c.G4489C:p.V1497L;ENSG00000101639:ENST00000430049:exon12:c.G3064C:p.V1022L;	0.996731174898642	0.794
18	13067830	G	T	18	13067831	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.G4489T:p.V1497L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.G3289T:p.V1097L;ENSG00000101639:ENST00000325971:exon20:c.G2701T:p.V901L;ENSG00000101639:ENST00000506447:exon22:c.G4489T:p.V1497L;ENSG00000101639:ENST00000430049:exon12:c.G3064T:p.V1022L;	0.999634693741434	0.92
18	13067831	T	A	18	13067832	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.T4490A:p.V1497E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.T3290A:p.V1097E;ENSG00000101639:ENST00000325971:exon20:c.T2702A:p.V901E;ENSG00000101639:ENST00000506447:exon22:c.T4490A:p.V1497E;ENSG00000101639:ENST00000430049:exon12:c.T3065A:p.V1022E;	0.0841735433009998	0.152
18	13067831	T	C	18	13067832	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.T4490C:p.V1497A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.T3290C:p.V1097A;ENSG00000101639:ENST00000325971:exon20:c.T2702C:p.V901A;ENSG00000101639:ENST00000506447:exon22:c.T4490C:p.V1497A;ENSG00000101639:ENST00000430049:exon12:c.T3065C:p.V1022A;	0.0489560153197973	0.186
18	13067831	T	G	18	13067832	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.T4490G:p.V1497G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.T3290G:p.V1097G;ENSG00000101639:ENST00000325971:exon20:c.T2702G:p.V901G;ENSG00000101639:ENST00000506447:exon22:c.T4490G:p.V1497G;ENSG00000101639:ENST00000430049:exon12:c.T3065G:p.V1022G;	0.0436602491108521	0.172
18	13067953	G	A	18	13067954	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.G4612A:p.A1538T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.G3412A:p.A1138T;ENSG00000101639:ENST00000325971:exon20:c.G2824A:p.A942T;ENSG00000101639:ENST00000506447:exon22:c.G4612A:p.A1538T;ENSG00000101639:ENST00000430049:exon12:c.G3187A:p.A1063T;	0.930393484225735	0.81
18	13067953	G	C	18	13067954	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.G4612C:p.A1538P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.G3412C:p.A1138P;ENSG00000101639:ENST00000325971:exon20:c.G2824C:p.A942P;ENSG00000101639:ENST00000506447:exon22:c.G4612C:p.A1538P;ENSG00000101639:ENST00000430049:exon12:c.G3187C:p.A1063P;	0.951124731433695	0.768
18	13067953	G	T	18	13067954	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.G4612T:p.A1538S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.G3412T:p.A1138S;ENSG00000101639:ENST00000325971:exon20:c.G2824T:p.A942S;ENSG00000101639:ENST00000506447:exon22:c.G4612T:p.A1538S;ENSG00000101639:ENST00000430049:exon12:c.G3187T:p.A1063S;	0.977707116010395	0.848
18	13067954	C	A	18	13067955	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.C4613A:p.A1538D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.C3413A:p.A1138D;ENSG00000101639:ENST00000325971:exon20:c.C2825A:p.A942D;ENSG00000101639:ENST00000506447:exon22:c.C4613A:p.A1538D;ENSG00000101639:ENST00000430049:exon12:c.C3188A:p.A1063D;	0.954559884529337	0.744
18	13067954	C	G	18	13067955	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.C4613G:p.A1538G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.C3413G:p.A1138G;ENSG00000101639:ENST00000325971:exon20:c.C2825G:p.A942G;ENSG00000101639:ENST00000506447:exon22:c.C4613G:p.A1538G;ENSG00000101639:ENST00000430049:exon12:c.C3188G:p.A1063G;	0.986034189143043	0.912
18	13067954	C	T	18	13067955	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon22:c.C4613T:p.A1538V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.C3413T:p.A1138V;ENSG00000101639:ENST00000325971:exon20:c.C2825T:p.A942V;ENSG00000101639:ENST00000506447:exon22:c.C4613T:p.A1538V;ENSG00000101639:ENST00000430049:exon12:c.C3188T:p.A1063V;	0.992102838595182	0.938
18	13067955	T	A	18	13067956	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon22:c.T4614A:p.A1538A;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.T3414A:p.A1138A;ENSG00000101639:ENST00000325971:exon20:c.T2826A:p.A942A;ENSG00000101639:ENST00000506447:exon22:c.T4614A:p.A1538A;ENSG00000101639:ENST00000430049:exon12:c.T3189A:p.A1063A;	1.43414273404084E-5	0.004
18	13067955	T	C	18	13067956	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon22:c.T4614C:p.A1538A;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.T3414C:p.A1138A;ENSG00000101639:ENST00000325971:exon20:c.T2826C:p.A942A;ENSG00000101639:ENST00000506447:exon22:c.T4614C:p.A1538A;ENSG00000101639:ENST00000430049:exon12:c.T3189C:p.A1063A;	1.89676128893162E-5	0.022
18	13067955	T	G	18	13067956	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon22:c.T4614G:p.A1538A;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon13:c.T3414G:p.A1138A;ENSG00000101639:ENST00000325971:exon20:c.T2826G:p.A942A;ENSG00000101639:ENST00000506447:exon22:c.T4614G:p.A1538A;ENSG00000101639:ENST00000430049:exon12:c.T3189G:p.A1063A;	5.54289121572064E-5	0.048
18	13067956	G	A	18	13067957	y	y	splicing	CEP192(NM_032142:exon22:c.4614+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2826+1G>A;ENST00000506447:exon22:c.4614+1G>A;ENST00000513432:exon16:c.5353+1G>A;ENST00000430049:exon12:c.3189+1G>A;ENST00000511820:exon12:c.3230+1G>A;ENST00000510237:exon13:c.3414+1G>A;ENST00000589993:exon2:c.257+1G>A)	.	.	0.999974090184857	0.938
18	13067956	G	C	18	13067957	y	y	splicing	CEP192(NM_032142:exon22:c.4614+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2826+1G>C;ENST00000506447:exon22:c.4614+1G>C;ENST00000513432:exon16:c.5353+1G>C;ENST00000430049:exon12:c.3189+1G>C;ENST00000511820:exon12:c.3230+1G>C;ENST00000510237:exon13:c.3414+1G>C;ENST00000589993:exon2:c.257+1G>C)	.	.	0.999963884237991	0.932
18	13067956	G	T	18	13067957	y	y	splicing	CEP192(NM_032142:exon22:c.4614+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2826+1G>T;ENST00000506447:exon22:c.4614+1G>T;ENST00000513432:exon16:c.5353+1G>T;ENST00000430049:exon12:c.3189+1G>T;ENST00000511820:exon12:c.3230+1G>T;ENST00000510237:exon13:c.3414+1G>T;ENST00000589993:exon2:c.257+1G>T)	.	.	0.999974090184857	0.932
18	13067957	T	A	18	13067958	y	y	splicing	CEP192(NM_032142:exon22:c.4614+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2826+2T>A;ENST00000506447:exon22:c.4614+2T>A;ENST00000513432:exon16:c.5353+2T>A;ENST00000430049:exon12:c.3189+2T>A;ENST00000511820:exon12:c.3230+2T>A;ENST00000510237:exon13:c.3414+2T>A;ENST00000589993:exon2:c.257+2T>A)	.	.	0.99994568797423	0.926
18	13067957	T	C	18	13067958	y	y	splicing	CEP192(NM_032142:exon22:c.4614+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2826+2T>C;ENST00000506447:exon22:c.4614+2T>C;ENST00000513432:exon16:c.5353+2T>C;ENST00000430049:exon12:c.3189+2T>C;ENST00000511820:exon12:c.3230+2T>C;ENST00000510237:exon13:c.3414+2T>C;ENST00000589993:exon2:c.257+2T>C)	.	.	0.985124993549982	0.664
18	13067957	T	G	18	13067958	y	y	splicing	CEP192(NM_032142:exon22:c.4614+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon20:c.2826+2T>G;ENST00000506447:exon22:c.4614+2T>G;ENST00000513432:exon16:c.5353+2T>G;ENST00000430049:exon12:c.3189+2T>G;ENST00000511820:exon12:c.3230+2T>G;ENST00000510237:exon13:c.3414+2T>G;ENST00000589993:exon2:c.257+2T>G)	.	.	0.99994568797423	0.93
18	13067958	A	C	18	13067959	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997149651295138	0.824
18	13067958	A	G	18	13067959	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.71334630314077E-4	0.042
18	13067958	A	T	18	13067959	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997216810523586	0.806
18	13067959	A	C	18	13067960	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.883458313294994	0.7
18	13067959	A	G	18	13067960	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.950051855186378	0.86
18	13067959	A	T	18	13067960	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.981669207335279	0.796
18	13067960	G	A	18	13067961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999970565890658	0.988
18	13067960	G	C	18	13067961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999981115184476	0.932
18	13067960	G	T	18	13067961	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999986325444263	0.994
18	13067961	T	A	18	13067962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.947422184105412	0.706
18	13067961	T	C	18	13067962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.987781678394197	0.862
18	13067961	T	G	18	13067962	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.98972607205582	0.746
18	13067962	A	C	18	13067963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.86504422273724E-5	0.0
18	13067962	A	G	18	13067963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.5213825859453E-5	0.0
18	13067962	A	T	18	13067963	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.01231565313118E-5	0.0
18	13067963	T	A	18	13067964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.7638411028489E-4	0.0
18	13067963	T	C	18	13067964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.52297880296295E-5	0.0
18	13067963	T	G	18	13067964	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.73500752263833E-5	0.0
18	13068081	A	C	18	13068082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.20462237133157E-5	0.0
18	13068081	A	G	18	13068082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.47616689013714E-5	0.012
18	13068081	A	T	18	13068082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.20462237133157E-5	0.006
18	13068082	T	A	18	13068083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0758898539757027	0.464
18	13068082	T	C	18	13068083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00229015879803462	0.158
18	13068082	T	G	18	13068083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999950678928538	0.938
18	13068083	T	A	18	13068084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0953882475546506	0.41
18	13068083	T	C	18	13068084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.23179683416991E-4	0.084
18	13068083	T	G	18	13068084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0133463246573524	0.258
18	13068084	T	A	18	13068085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0305065976125952	0.186
18	13068084	T	C	18	13068085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.68240346436184E-4	0.02
18	13068084	T	G	18	13068085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00651348803511345	0.112
18	13068085	C	A	18	13068086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00212203942065864	0.09
18	13068085	C	G	18	13068086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00270825895149634	0.092
18	13068085	C	T	18	13068086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.48503845309048E-5	0.01
18	13068086	T	A	18	13068087	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0794652498302548	0.304
18	13068086	T	C	18	13068087	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.14733106701611E-4	0.004
18	13068086	T	G	18	13068087	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0133186992950178	0.22
18	13068087	A	C	18	13068088	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.45612225627207E-5	0.0
18	13068087	A	G	18	13068088	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.94277801936291E-5	0.012
18	13068087	A	T	18	13068088	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.57556264446615E-5	0.0
18	13068088	A	C	18	13068089	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.3731704565139E-5	0.024
18	13068088	A	G	18	13068089	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999271310837884	0.98
18	13068088	A	T	18	13068089	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.00109009134948E-5	0.046
18	13068089	A	C	18	13068090	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.54002559023596E-4	0.038
18	13068089	A	G	18	13068090	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.949810990001199	0.772
18	13068089	A	T	18	13068090	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0022059827815439	0.052
18	13068090	C	A	18	13068091	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.921926344259724	0.802
18	13068090	C	G	18	13068091	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999107887451411	0.752
18	13068090	C	T	18	13068091	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00100117725649877	0.14
18	13068091	A	C	18	13068092	y	y	splicing	CEP192(NM_032142:exon23:c.4615-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2827-2A>C;ENST00000506447:exon23:c.4615-2A>C;ENST00000513432:exon17:c.5354-2A>C;ENST00000430049:exon13:c.3190-2A>C;ENST00000511820:exon13:c.3231-2A>C;ENST00000510237:exon14:c.3415-2A>C;ENST00000589993:exon3:c.258-2A>C)	.	.	0.99993872479901	0.956
18	13068091	A	G	18	13068092	y	y	splicing	CEP192(NM_032142:exon23:c.4615-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2827-2A>G;ENST00000506447:exon23:c.4615-2A>G;ENST00000513432:exon17:c.5354-2A>G;ENST00000430049:exon13:c.3190-2A>G;ENST00000511820:exon13:c.3231-2A>G;ENST00000510237:exon14:c.3415-2A>G;ENST00000589993:exon3:c.258-2A>G)	.	.	0.99993872479901	0.956
18	13068091	A	T	18	13068092	y	y	splicing	CEP192(NM_032142:exon23:c.4615-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2827-2A>T;ENST00000506447:exon23:c.4615-2A>T;ENST00000513432:exon17:c.5354-2A>T;ENST00000430049:exon13:c.3190-2A>T;ENST00000511820:exon13:c.3231-2A>T;ENST00000510237:exon14:c.3415-2A>T;ENST00000589993:exon3:c.258-2A>T)	.	.	0.99993872479901	0.952
18	13068092	G	A	18	13068093	y	y	splicing	CEP192(NM_032142:exon23:c.4615-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2827-1G>A;ENST00000506447:exon23:c.4615-1G>A;ENST00000513432:exon17:c.5354-1G>A;ENST00000430049:exon13:c.3190-1G>A;ENST00000511820:exon13:c.3231-1G>A;ENST00000510237:exon14:c.3415-1G>A;ENST00000589993:exon3:c.258-1G>A)	.	.	0.999924569530819	0.932
18	13068092	G	C	18	13068093	y	y	splicing	CEP192(NM_032142:exon23:c.4615-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2827-1G>C;ENST00000506447:exon23:c.4615-1G>C;ENST00000513432:exon17:c.5354-1G>C;ENST00000430049:exon13:c.3190-1G>C;ENST00000511820:exon13:c.3231-1G>C;ENST00000510237:exon14:c.3415-1G>C;ENST00000589993:exon3:c.258-1G>C)	.	.	0.999924569530819	0.936
18	13068092	G	T	18	13068093	y	y	splicing	CEP192(NM_032142:exon23:c.4615-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2827-1G>T;ENST00000506447:exon23:c.4615-1G>T;ENST00000513432:exon17:c.5354-1G>T;ENST00000430049:exon13:c.3190-1G>T;ENST00000511820:exon13:c.3231-1G>T;ENST00000510237:exon14:c.3415-1G>T;ENST00000589993:exon3:c.258-1G>T)	.	.	0.999924569530819	0.934
18	13068093	A	C	18	13068094	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4615C:p.N1539H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3415C:p.N1139H;ENSG00000101639:ENST00000325971:exon21:c.A2827C:p.N943H;ENSG00000101639:ENST00000506447:exon23:c.A4615C:p.N1539H;ENSG00000101639:ENST00000430049:exon13:c.A3190C:p.N1064H;	0.126764092067949	0.192
18	13068093	A	G	18	13068094	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4615G:p.N1539D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3415G:p.N1139D;ENSG00000101639:ENST00000325971:exon21:c.A2827G:p.N943D;ENSG00000101639:ENST00000506447:exon23:c.A4615G:p.N1539D;ENSG00000101639:ENST00000430049:exon13:c.A3190G:p.N1064D;	4.0326142845298E-4	0.014
18	13068093	A	T	18	13068094	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4615T:p.N1539Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3415T:p.N1139Y;ENSG00000101639:ENST00000325971:exon21:c.A2827T:p.N943Y;ENSG00000101639:ENST00000506447:exon23:c.A4615T:p.N1539Y;ENSG00000101639:ENST00000430049:exon13:c.A3190T:p.N1064Y;	0.12111198064827	0.18
18	13068094	A	C	18	13068095	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4616C:p.N1539T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3416C:p.N1139T;ENSG00000101639:ENST00000325971:exon21:c.A2828C:p.N943T;ENSG00000101639:ENST00000506447:exon23:c.A4616C:p.N1539T;ENSG00000101639:ENST00000430049:exon13:c.A3191C:p.N1064T;	0.284707620205152	0.482
18	13068094	A	G	18	13068095	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4616G:p.N1539S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3416G:p.N1139S;ENSG00000101639:ENST00000325971:exon21:c.A2828G:p.N943S;ENSG00000101639:ENST00000506447:exon23:c.A4616G:p.N1539S;ENSG00000101639:ENST00000430049:exon13:c.A3191G:p.N1064S;	0.657422940049353	0.424
18	13068094	A	T	18	13068095	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4616T:p.N1539I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3416T:p.N1139I;ENSG00000101639:ENST00000325971:exon21:c.A2828T:p.N943I;ENSG00000101639:ENST00000506447:exon23:c.A4616T:p.N1539I;ENSG00000101639:ENST00000430049:exon13:c.A3191T:p.N1064I;	0.630413755469085	0.552
18	13068234	C	A	18	13068235	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.C4756A:p.Q1586K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.C3556A:p.Q1186K;ENSG00000101639:ENST00000325971:exon21:c.C2968A:p.Q990K;ENSG00000101639:ENST00000506447:exon23:c.C4756A:p.Q1586K;ENSG00000101639:ENST00000430049:exon13:c.C3331A:p.Q1111K;	0.0555507815560096	0.212
18	13068234	C	G	18	13068235	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.C4756G:p.Q1586E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.C3556G:p.Q1186E;ENSG00000101639:ENST00000325971:exon21:c.C2968G:p.Q990E;ENSG00000101639:ENST00000506447:exon23:c.C4756G:p.Q1586E;ENSG00000101639:ENST00000430049:exon13:c.C3331G:p.Q1111E;	0.680857740646538	0.336
18	13068234	C	T	18	13068235	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon23:c.C4756T:p.Q1586X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon14:c.C3556T:p.Q1186X;ENSG00000101639:ENST00000325971:exon21:c.C2968T:p.Q990X;ENSG00000101639:ENST00000506447:exon23:c.C4756T:p.Q1586X;ENSG00000101639:ENST00000430049:exon13:c.C3331T:p.Q1111X;	0.99633119076736	0.912
18	13068235	A	C	18	13068236	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4757C:p.Q1586P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3557C:p.Q1186P;ENSG00000101639:ENST00000325971:exon21:c.A2969C:p.Q990P;ENSG00000101639:ENST00000506447:exon23:c.A4757C:p.Q1586P;ENSG00000101639:ENST00000430049:exon13:c.A3332C:p.Q1111P;	0.999907025271909	0.986
18	13068235	A	G	18	13068236	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4757G:p.Q1586R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3557G:p.Q1186R;ENSG00000101639:ENST00000325971:exon21:c.A2969G:p.Q990R;ENSG00000101639:ENST00000506447:exon23:c.A4757G:p.Q1586R;ENSG00000101639:ENST00000430049:exon13:c.A3332G:p.Q1111R;	0.999959896197656	0.998
18	13068235	A	T	18	13068236	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.A4757T:p.Q1586L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.A3557T:p.Q1186L;ENSG00000101639:ENST00000325971:exon21:c.A2969T:p.Q990L;ENSG00000101639:ENST00000506447:exon23:c.A4757T:p.Q1586L;ENSG00000101639:ENST00000430049:exon13:c.A3332T:p.Q1111L;	0.999959896197656	1.0
18	13068236	G	A	18	13068237	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon23:c.G4758A:p.Q1586Q;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.G3558A:p.Q1186Q;ENSG00000101639:ENST00000325971:exon21:c.G2970A:p.Q990Q;ENSG00000101639:ENST00000506447:exon23:c.G4758A:p.Q1586Q;ENSG00000101639:ENST00000430049:exon13:c.G3333A:p.Q1111Q;	0.999989157148258	0.992
18	13068236	G	C	18	13068237	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.G4758C:p.Q1586H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.G3558C:p.Q1186H;ENSG00000101639:ENST00000325971:exon21:c.G2970C:p.Q990H;ENSG00000101639:ENST00000506447:exon23:c.G4758C:p.Q1586H;ENSG00000101639:ENST00000430049:exon13:c.G3333C:p.Q1111H;	0.999993583124048	1.0
18	13068236	G	T	18	13068237	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon23:c.G4758T:p.Q1586H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon14:c.G3558T:p.Q1186H;ENSG00000101639:ENST00000325971:exon21:c.G2970T:p.Q990H;ENSG00000101639:ENST00000506447:exon23:c.G4758T:p.Q1586H;ENSG00000101639:ENST00000430049:exon13:c.G3333T:p.Q1111H;	0.999968989057102	1.0
18	13068237	G	A	18	13068238	y	y	splicing	CEP192(NM_032142:exon23:c.4758+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2970+1G>A;ENST00000506447:exon23:c.4758+1G>A;ENST00000513432:exon17:c.5497+1G>A;ENST00000430049:exon13:c.3333+1G>A;ENST00000511820:exon13:c.3374+1G>A;ENST00000510237:exon14:c.3558+1G>A;ENST00000589993:exon3:c.401+1G>A)	.	.	0.999988630721284	0.94
18	13068237	G	C	18	13068238	y	y	splicing	CEP192(NM_032142:exon23:c.4758+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2970+1G>C;ENST00000506447:exon23:c.4758+1G>C;ENST00000513432:exon17:c.5497+1G>C;ENST00000430049:exon13:c.3333+1G>C;ENST00000511820:exon13:c.3374+1G>C;ENST00000510237:exon14:c.3558+1G>C;ENST00000589993:exon3:c.401+1G>C)	.	.	0.999988630721284	0.94
18	13068237	G	T	18	13068238	y	y	splicing	CEP192(NM_032142:exon23:c.4758+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2970+1G>T;ENST00000506447:exon23:c.4758+1G>T;ENST00000513432:exon17:c.5497+1G>T;ENST00000430049:exon13:c.3333+1G>T;ENST00000511820:exon13:c.3374+1G>T;ENST00000510237:exon14:c.3558+1G>T;ENST00000589993:exon3:c.401+1G>T)	.	.	0.999988630721284	0.94
18	13068238	T	A	18	13068239	y	y	splicing	CEP192(NM_032142:exon23:c.4758+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2970+2T>A;ENST00000506447:exon23:c.4758+2T>A;ENST00000513432:exon17:c.5497+2T>A;ENST00000430049:exon13:c.3333+2T>A;ENST00000511820:exon13:c.3374+2T>A;ENST00000510237:exon14:c.3558+2T>A;ENST00000589993:exon3:c.401+2T>A)	.	.	0.999957317860884	0.954
18	13068238	T	C	18	13068239	y	y	splicing	CEP192(NM_032142:exon23:c.4758+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2970+2T>C;ENST00000506447:exon23:c.4758+2T>C;ENST00000513432:exon17:c.5497+2T>C;ENST00000430049:exon13:c.3333+2T>C;ENST00000511820:exon13:c.3374+2T>C;ENST00000510237:exon14:c.3558+2T>C;ENST00000589993:exon3:c.401+2T>C)	.	.	0.999771535480927	0.94
18	13068238	T	G	18	13068239	y	y	splicing	CEP192(NM_032142:exon23:c.4758+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon21:c.2970+2T>G;ENST00000506447:exon23:c.4758+2T>G;ENST00000513432:exon17:c.5497+2T>G;ENST00000430049:exon13:c.3333+2T>G;ENST00000511820:exon13:c.3374+2T>G;ENST00000510237:exon14:c.3558+2T>G;ENST00000589993:exon3:c.401+2T>G)	.	.	0.999957711392063	0.958
18	13068239	G	A	18	13068240	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.85286254550032E-5	0.042
18	13068239	G	C	18	13068240	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00161328871248787	0.164
18	13068239	G	T	18	13068240	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00173273318665287	0.14
18	13068240	G	A	18	13068241	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.82198273390021E-4	0.126
18	13068240	G	C	18	13068241	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.42047456682225E-5	0.028
18	13068240	G	T	18	13068241	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.15544689066113E-4	0.016
18	13068241	G	A	18	13068242	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999862963136946	0.966
18	13068241	G	C	18	13068242	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999962255600021	0.954
18	13068241	G	T	18	13068242	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999971969725949	0.952
18	13068242	A	C	18	13068243	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.88939635352514E-5	0.012
18	13068242	A	G	18	13068243	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.80108980492383E-5	0.018
18	13068242	A	T	18	13068243	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.67944982512943E-5	0.0
18	13068243	G	A	18	13068244	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.35105135386227E-5	0.044
18	13068243	G	C	18	13068244	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.08211150267998E-5	0.084
18	13068243	G	T	18	13068244	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.08211150267998E-5	0.05
18	13068244	A	C	18	13068245	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.658318015934E-5	0.0
18	13068244	A	G	18	13068245	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.658318015934E-5	0.0
18	13068244	A	T	18	13068245	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.65379162702593E-5	0.0
18	13068346	T	A	18	13068347	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.970688609465893	0.652
18	13068346	T	C	18	13068347	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0380974487983356	0.332
18	13068346	T	G	18	13068347	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.968454827126648	0.666
18	13068347	T	A	18	13068348	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.864699921550722	0.522
18	13068347	T	C	18	13068348	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.49786850383962E-4	0.11
18	13068347	T	G	18	13068348	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.236456035664991	0.42
18	13068348	A	C	18	13068349	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.33589785354296E-6	0.13
18	13068348	A	G	18	13068349	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.56601518329419E-5	0.142
18	13068348	A	T	18	13068349	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.0964595609055E-5	0.11
18	13068349	A	C	18	13068350	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.81531128478238E-5	0.002
18	13068349	A	G	18	13068350	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997368597121855	0.952
18	13068349	A	T	18	13068350	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.29444144489972E-5	0.014
18	13068350	T	A	18	13068351	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.184061738697004	0.344
18	13068350	T	C	18	13068351	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.85359511110701E-4	0.028
18	13068350	T	G	18	13068351	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999698071373936	0.958
18	13068351	T	A	18	13068352	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0180680601273316	0.136
18	13068351	T	C	18	13068352	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.92175377900186E-4	0.002
18	13068351	T	G	18	13068352	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.017067690328433	0.13
18	13068352	T	A	18	13068353	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.956057392285187	0.648
18	13068352	T	C	18	13068353	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00154853355681037	0.026
18	13068352	T	G	18	13068353	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.852237251525064	0.614
18	13068353	T	A	18	13068354	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.513043280896874	0.454
18	13068353	T	C	18	13068354	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.63519330364101E-4	0.012
18	13068353	T	G	18	13068354	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.703932702680204	0.416
18	13068354	A	C	18	13068355	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.30522999414568E-5	0.0
18	13068354	A	G	18	13068355	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.29116337084455E-4	0.0
18	13068354	A	T	18	13068355	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.83175261227985E-5	0.0
18	13068355	T	A	18	13068356	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0604846756340712	0.194
18	13068355	T	C	18	13068356	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.41151477755639E-4	0.022
18	13068355	T	G	18	13068356	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994933911475493	0.788
18	13068356	A	C	18	13068357	y	y	splicing	CEP192(NM_032142:exon24:c.4759-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.2971-2A>C;ENST00000506447:exon24:c.4759-2A>C;ENST00000513432:exon18:c.5498-2A>C;ENST00000430049:exon14:c.3334-2A>C;ENST00000511820:exon14:c.3375-2A>C;ENST00000510237:exon15:c.3559-2A>C;ENST00000589993:exon4:c.402-2A>C)	.	.	0.999988247793601	0.928
18	13068356	A	G	18	13068357	y	y	splicing	CEP192(NM_032142:exon24:c.4759-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.2971-2A>G;ENST00000506447:exon24:c.4759-2A>G;ENST00000513432:exon18:c.5498-2A>G;ENST00000430049:exon14:c.3334-2A>G;ENST00000511820:exon14:c.3375-2A>G;ENST00000510237:exon15:c.3559-2A>G;ENST00000589993:exon4:c.402-2A>G)	.	.	0.999988247793601	0.928
18	13068356	A	T	18	13068357	y	y	splicing	CEP192(NM_032142:exon24:c.4759-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.2971-2A>T;ENST00000506447:exon24:c.4759-2A>T;ENST00000513432:exon18:c.5498-2A>T;ENST00000430049:exon14:c.3334-2A>T;ENST00000511820:exon14:c.3375-2A>T;ENST00000510237:exon15:c.3559-2A>T;ENST00000589993:exon4:c.402-2A>T)	.	.	0.999988247793601	0.928
18	13068357	G	A	18	13068358	y	y	splicing	CEP192(NM_032142:exon24:c.4759-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.2971-1G>A;ENST00000506447:exon24:c.4759-1G>A;ENST00000513432:exon18:c.5498-1G>A;ENST00000430049:exon14:c.3334-1G>A;ENST00000511820:exon14:c.3375-1G>A;ENST00000510237:exon15:c.3559-1G>A;ENST00000589993:exon4:c.402-1G>A)	.	.	0.999985532734767	0.938
18	13068357	G	C	18	13068358	y	y	splicing	CEP192(NM_032142:exon24:c.4759-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.2971-1G>C;ENST00000506447:exon24:c.4759-1G>C;ENST00000513432:exon18:c.5498-1G>C;ENST00000430049:exon14:c.3334-1G>C;ENST00000511820:exon14:c.3375-1G>C;ENST00000510237:exon15:c.3559-1G>C;ENST00000589993:exon4:c.402-1G>C)	.	.	0.999985532734767	0.938
18	13068357	G	T	18	13068358	y	y	splicing	CEP192(NM_032142:exon24:c.4759-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.2971-1G>T;ENST00000506447:exon24:c.4759-1G>T;ENST00000513432:exon18:c.5498-1G>T;ENST00000430049:exon14:c.3334-1G>T;ENST00000511820:exon14:c.3375-1G>T;ENST00000510237:exon15:c.3559-1G>T;ENST00000589993:exon4:c.402-1G>T)	.	.	0.999985532734767	0.938
18	13068358	G	A	18	13068359	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.G4759A:p.D1587N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.G3559A:p.D1187N;ENSG00000101639:ENST00000325971:exon22:c.G2971A:p.D991N;ENSG00000101639:ENST00000506447:exon24:c.G4759A:p.D1587N;ENSG00000101639:ENST00000430049:exon14:c.G3334A:p.D1112N;	0.999728526741305	0.892
18	13068358	G	C	18	13068359	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.G4759C:p.D1587H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.G3559C:p.D1187H;ENSG00000101639:ENST00000325971:exon22:c.G2971C:p.D991H;ENSG00000101639:ENST00000506447:exon24:c.G4759C:p.D1587H;ENSG00000101639:ENST00000430049:exon14:c.G3334C:p.D1112H;	0.999511050250884	0.978
18	13068358	G	T	18	13068359	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.G4759T:p.D1587Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.G3559T:p.D1187Y;ENSG00000101639:ENST00000325971:exon22:c.G2971T:p.D991Y;ENSG00000101639:ENST00000506447:exon24:c.G4759T:p.D1587Y;ENSG00000101639:ENST00000430049:exon14:c.G3334T:p.D1112Y;	0.999819006243243	0.996
18	13068359	A	C	18	13068360	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.A4760C:p.D1587A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.A3560C:p.D1187A;ENSG00000101639:ENST00000325971:exon22:c.A2972C:p.D991A;ENSG00000101639:ENST00000506447:exon24:c.A4760C:p.D1587A;ENSG00000101639:ENST00000430049:exon14:c.A3335C:p.D1112A;	0.79848695860345	0.752
18	13068359	A	G	18	13068360	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.A4760G:p.D1587G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.A3560G:p.D1187G;ENSG00000101639:ENST00000325971:exon22:c.A2972G:p.D991G;ENSG00000101639:ENST00000506447:exon24:c.A4760G:p.D1587G;ENSG00000101639:ENST00000430049:exon14:c.A3335G:p.D1112G;	0.74360058637728	0.648
18	13068359	A	T	18	13068360	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.A4760T:p.D1587V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.A3560T:p.D1187V;ENSG00000101639:ENST00000325971:exon22:c.A2972T:p.D991V;ENSG00000101639:ENST00000506447:exon24:c.A4760T:p.D1587V;ENSG00000101639:ENST00000430049:exon14:c.A3335T:p.D1112V;	0.745942862027978	0.818
18	13068419	C	A	18	13068420	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon24:c.C4820A:p.S1607X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon15:c.C3620A:p.S1207X;ENSG00000101639:ENST00000325971:exon22:c.C3032A:p.S1011X;ENSG00000101639:ENST00000506447:exon24:c.C4820A:p.S1607X;ENSG00000101639:ENST00000430049:exon14:c.C3395A:p.S1132X;	0.960172121149559	0.846
18	13068419	C	G	18	13068420	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon24:c.C4820G:p.S1607X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon15:c.C3620G:p.S1207X;ENSG00000101639:ENST00000325971:exon22:c.C3032G:p.S1011X;ENSG00000101639:ENST00000506447:exon24:c.C4820G:p.S1607X;ENSG00000101639:ENST00000430049:exon14:c.C3395G:p.S1132X;	0.967249898454539	0.714
18	13068419	C	T	18	13068420	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.C4820T:p.S1607L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.C3620T:p.S1207L;ENSG00000101639:ENST00000325971:exon22:c.C3032T:p.S1011L;ENSG00000101639:ENST00000506447:exon24:c.C4820T:p.S1607L;ENSG00000101639:ENST00000430049:exon14:c.C3395T:p.S1132L;	0.999851308856688	0.984
18	13068420	A	C	18	13068421	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon24:c.A4821C:p.S1607S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.A3621C:p.S1207S;ENSG00000101639:ENST00000325971:exon22:c.A3033C:p.S1011S;ENSG00000101639:ENST00000506447:exon24:c.A4821C:p.S1607S;ENSG00000101639:ENST00000430049:exon14:c.A3396C:p.S1132S;	0.999658167225099	0.97
18	13068420	A	G	18	13068421	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon24:c.A4821G:p.S1607S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.A3621G:p.S1207S;ENSG00000101639:ENST00000325971:exon22:c.A3033G:p.S1011S;ENSG00000101639:ENST00000506447:exon24:c.A4821G:p.S1607S;ENSG00000101639:ENST00000430049:exon14:c.A3396G:p.S1132S;	0.99902911478991	0.974
18	13068420	A	T	18	13068421	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon24:c.A4821T:p.S1607S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.A3621T:p.S1207S;ENSG00000101639:ENST00000325971:exon22:c.A3033T:p.S1011S;ENSG00000101639:ENST00000506447:exon24:c.A4821T:p.S1607S;ENSG00000101639:ENST00000430049:exon14:c.A3396T:p.S1132S;	0.999912560415515	0.982
18	13068421	G	A	18	13068422	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.G4822A:p.D1608N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.G3622A:p.D1208N;ENSG00000101639:ENST00000325971:exon22:c.G3034A:p.D1012N;ENSG00000101639:ENST00000506447:exon24:c.G4822A:p.D1608N;ENSG00000101639:ENST00000430049:exon14:c.G3397A:p.D1133N;	0.999993897951988	1.0
18	13068421	G	C	18	13068422	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.G4822C:p.D1608H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.G3622C:p.D1208H;ENSG00000101639:ENST00000325971:exon22:c.G3034C:p.D1012H;ENSG00000101639:ENST00000506447:exon24:c.G4822C:p.D1608H;ENSG00000101639:ENST00000430049:exon14:c.G3397C:p.D1133H;	0.999997975790096	1.0
18	13068421	G	T	18	13068422	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon24:c.G4822T:p.D1608Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon15:c.G3622T:p.D1208Y;ENSG00000101639:ENST00000325971:exon22:c.G3034T:p.D1012Y;ENSG00000101639:ENST00000506447:exon24:c.G4822T:p.D1608Y;ENSG00000101639:ENST00000430049:exon14:c.G3397T:p.D1133Y;	0.99999367010474	1.0
18	13068422	G	A	18	13068423	y	y	splicing	CEP192(NM_032142:exon24:c.4822+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.3034+1G>A;ENST00000506447:exon24:c.4822+1G>A;ENST00000513432:exon18:c.5561+1G>A;ENST00000430049:exon14:c.3397+1G>A;ENST00000511820:exon14:c.3438+1G>A;ENST00000510237:exon15:c.3622+1G>A;ENST00000589993:exon4:c.465+1G>A)	.	.	0.999988630721284	0.94
18	13068422	G	C	18	13068423	y	y	splicing	CEP192(NM_032142:exon24:c.4822+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.3034+1G>C;ENST00000506447:exon24:c.4822+1G>C;ENST00000513432:exon18:c.5561+1G>C;ENST00000430049:exon14:c.3397+1G>C;ENST00000511820:exon14:c.3438+1G>C;ENST00000510237:exon15:c.3622+1G>C;ENST00000589993:exon4:c.465+1G>C)	.	.	0.999988630721284	0.94
18	13068422	G	T	18	13068423	y	y	splicing	CEP192(NM_032142:exon24:c.4822+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.3034+1G>T;ENST00000506447:exon24:c.4822+1G>T;ENST00000513432:exon18:c.5561+1G>T;ENST00000430049:exon14:c.3397+1G>T;ENST00000511820:exon14:c.3438+1G>T;ENST00000510237:exon15:c.3622+1G>T;ENST00000589993:exon4:c.465+1G>T)	.	.	0.999988630721284	0.94
18	13068423	T	A	18	13068424	y	y	splicing	CEP192(NM_032142:exon24:c.4822+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.3034+2T>A;ENST00000506447:exon24:c.4822+2T>A;ENST00000513432:exon18:c.5561+2T>A;ENST00000430049:exon14:c.3397+2T>A;ENST00000511820:exon14:c.3438+2T>A;ENST00000510237:exon15:c.3622+2T>A;ENST00000589993:exon4:c.465+2T>A)	.	.	0.999990764389106	0.942
18	13068423	T	C	18	13068424	y	y	splicing	CEP192(NM_032142:exon24:c.4822+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.3034+2T>C;ENST00000506447:exon24:c.4822+2T>C;ENST00000513432:exon18:c.5561+2T>C;ENST00000430049:exon14:c.3397+2T>C;ENST00000511820:exon14:c.3438+2T>C;ENST00000510237:exon15:c.3622+2T>C;ENST00000589993:exon4:c.465+2T>C)	.	.	0.994157908252347	0.67
18	13068423	T	G	18	13068424	y	y	splicing	CEP192(NM_032142:exon24:c.4822+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon22:c.3034+2T>G;ENST00000506447:exon24:c.4822+2T>G;ENST00000513432:exon18:c.5561+2T>G;ENST00000430049:exon14:c.3397+2T>G;ENST00000511820:exon14:c.3438+2T>G;ENST00000510237:exon15:c.3622+2T>G;ENST00000589993:exon4:c.465+2T>G)	.	.	0.999990764389106	0.942
18	13068424	A	C	18	13068425	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999943687596309	0.972
18	13068424	A	G	18	13068425	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99991609330626	0.936
18	13068424	A	T	18	13068425	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999959348394195	0.976
18	13068425	T	A	18	13068426	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.02618986445574E-4	0.056
18	13068425	T	C	18	13068426	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.05961968209266E-4	0.066
18	13068425	T	G	18	13068426	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.21282108352573E-5	0.022
18	13068426	C	A	18	13068427	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.04691474360885E-4	0.032
18	13068426	C	G	18	13068427	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.75375399789807E-4	0.02
18	13068426	C	T	18	13068427	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.66419976594097E-4	0.016
18	13068427	A	C	18	13068428	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.1504361881131E-4	0.08
18	13068427	A	G	18	13068428	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.97980468336727E-5	0.018
18	13068427	A	T	18	13068428	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.93978668608894E-4	0.066
18	13068428	T	A	18	13068429	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.94976103208431E-4	0.006
18	13068428	T	C	18	13068429	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.02747733280335E-4	0.008
18	13068428	T	G	18	13068429	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.84724510942406E-4	0.006
18	13068429	G	A	18	13068430	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.83834258806915E-4	0.004
18	13068429	G	C	18	13068430	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.80364123974106E-4	0.008
18	13068429	G	T	18	13068430	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.08219224544656E-4	0.016
18	13068839	A	C	18	13068840	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.26654704192534E-5	0.0
18	13068839	A	G	18	13068840	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.856050562511246	0.812
18	13068839	A	T	18	13068840	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.71463203310518E-5	0.0
18	13068840	C	A	18	13068841	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.69082112235326E-4	0.016
18	13068840	C	G	18	13068841	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.960449577566441	0.522
18	13068840	C	T	18	13068841	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.48317774729704E-5	0.062
18	13068841	T	A	18	13068842	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.205119510356462	0.49
18	13068841	T	C	18	13068842	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.46500185592408E-5	0.134
18	13068841	T	G	18	13068842	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0112575398406838	0.412
18	13068842	T	A	18	13068843	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00287992513118916	0.154
18	13068842	T	C	18	13068843	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.03847076529159E-5	0.048
18	13068842	T	G	18	13068843	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00144550565002118	0.142
18	13068843	T	A	18	13068844	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0239825063189439	0.122
18	13068843	T	C	18	13068844	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.822769642047E-5	0.002
18	13068843	T	G	18	13068844	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.29991954772202E-4	0.1
18	13068844	T	A	18	13068845	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.028820572486867	0.258
18	13068844	T	C	18	13068845	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.60322217403308E-4	0.028
18	13068844	T	G	18	13068845	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0105080800076689	0.328
18	13068845	T	A	18	13068846	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.797060854334039	0.528
18	13068845	T	C	18	13068846	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.96023760523699E-5	0.006
18	13068845	T	G	18	13068846	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.814469587890488	0.602
18	13068846	T	A	18	13068847	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.954624355477103	0.586
18	13068846	T	C	18	13068847	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0367784661381047	0.332
18	13068846	T	G	18	13068847	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.981063055712157	0.618
18	13068847	T	A	18	13068848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.21122197052499E-4	0.48
18	13068847	T	C	18	13068848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.16197237236603E-5	0.156
18	13068847	T	G	18	13068848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.5705094104915E-4	0.362
18	13068848	T	A	18	13068849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00571106084613758	0.168
18	13068848	T	C	18	13068849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.69668901246054E-5	0.002
18	13068848	T	G	18	13068849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.866055635769049	0.71
18	13068849	A	C	18	13068850	y	y	splicing	CEP192(NM_032142:exon25:c.4823-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3035-2A>C;ENST00000506447:exon25:c.4823-2A>C;ENST00000513432:exon19:c.5562-2A>C;ENST00000430049:exon15:c.3398-2A>C;ENST00000511820:exon15:c.3439-2A>C;ENST00000510237:exon16:c.3623-2A>C;ENST00000589993:exon5:c.466-2A>C)	.	.	0.999972155025474	0.874
18	13068849	A	G	18	13068850	y	y	splicing	CEP192(NM_032142:exon25:c.4823-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3035-2A>G;ENST00000506447:exon25:c.4823-2A>G;ENST00000513432:exon19:c.5562-2A>G;ENST00000430049:exon15:c.3398-2A>G;ENST00000511820:exon15:c.3439-2A>G;ENST00000510237:exon16:c.3623-2A>G;ENST00000589993:exon5:c.466-2A>G)	.	.	0.999972155025474	0.872
18	13068849	A	T	18	13068850	y	y	splicing	CEP192(NM_032142:exon25:c.4823-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3035-2A>T;ENST00000506447:exon25:c.4823-2A>T;ENST00000513432:exon19:c.5562-2A>T;ENST00000430049:exon15:c.3398-2A>T;ENST00000511820:exon15:c.3439-2A>T;ENST00000510237:exon16:c.3623-2A>T;ENST00000589993:exon5:c.466-2A>T)	.	.	0.999971317418422	0.892
18	13068850	G	A	18	13068851	y	y	splicing	CEP192(NM_032142:exon25:c.4823-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3035-1G>A;ENST00000506447:exon25:c.4823-1G>A;ENST00000513432:exon19:c.5562-1G>A;ENST00000430049:exon15:c.3398-1G>A;ENST00000511820:exon15:c.3439-1G>A;ENST00000510237:exon16:c.3623-1G>A;ENST00000589993:exon5:c.466-1G>A)	.	.	0.999976475802857	0.91
18	13068850	G	C	18	13068851	y	y	splicing	CEP192(NM_032142:exon25:c.4823-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3035-1G>C;ENST00000506447:exon25:c.4823-1G>C;ENST00000513432:exon19:c.5562-1G>C;ENST00000430049:exon15:c.3398-1G>C;ENST00000511820:exon15:c.3439-1G>C;ENST00000510237:exon16:c.3623-1G>C;ENST00000589993:exon5:c.466-1G>C)	.	.	0.999976475802857	0.904
18	13068850	G	T	18	13068851	y	y	splicing	CEP192(NM_032142:exon25:c.4823-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3035-1G>T;ENST00000506447:exon25:c.4823-1G>T;ENST00000513432:exon19:c.5562-1G>T;ENST00000430049:exon15:c.3398-1G>T;ENST00000511820:exon15:c.3439-1G>T;ENST00000510237:exon16:c.3623-1G>T;ENST00000589993:exon5:c.466-1G>T)	.	.	0.999976475802857	0.908
18	13068851	A	C	18	13068852	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.A4823C:p.D1608A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.A3623C:p.D1208A;ENSG00000101639:ENST00000325971:exon23:c.A3035C:p.D1012A;ENSG00000101639:ENST00000506447:exon25:c.A4823C:p.D1608A;ENSG00000101639:ENST00000430049:exon15:c.A3398C:p.D1133A;	0.00546701928196114	0.262
18	13068851	A	G	18	13068852	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.A4823G:p.D1608G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.A3623G:p.D1208G;ENSG00000101639:ENST00000325971:exon23:c.A3035G:p.D1012G;ENSG00000101639:ENST00000506447:exon25:c.A4823G:p.D1608G;ENSG00000101639:ENST00000430049:exon15:c.A3398G:p.D1133G;	2.86468451889822E-4	0.026
18	13068851	A	T	18	13068852	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.A4823T:p.D1608V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.A3623T:p.D1208V;ENSG00000101639:ENST00000325971:exon23:c.A3035T:p.D1012V;ENSG00000101639:ENST00000506447:exon25:c.A4823T:p.D1608V;ENSG00000101639:ENST00000430049:exon15:c.A3398T:p.D1133V;	0.0134923904450193	0.27
18	13068852	T	A	18	13068853	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.T4824A:p.D1608E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.T3624A:p.D1208E;ENSG00000101639:ENST00000325971:exon23:c.T3036A:p.D1012E;ENSG00000101639:ENST00000506447:exon25:c.T4824A:p.D1608E;ENSG00000101639:ENST00000430049:exon15:c.T3399A:p.D1133E;	1.42171886000415E-4	0.006
18	13068852	T	C	18	13068853	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon25:c.T4824C:p.D1608D;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.T3624C:p.D1208D;ENSG00000101639:ENST00000325971:exon23:c.T3036C:p.D1012D;ENSG00000101639:ENST00000506447:exon25:c.T4824C:p.D1608D;ENSG00000101639:ENST00000430049:exon15:c.T3399C:p.D1133D;	5.57852693758258E-4	0.018
18	13068852	T	G	18	13068853	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.T4824G:p.D1608E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.T3624G:p.D1208E;ENSG00000101639:ENST00000325971:exon23:c.T3036G:p.D1012E;ENSG00000101639:ENST00000506447:exon25:c.T4824G:p.D1608E;ENSG00000101639:ENST00000430049:exon15:c.T3399G:p.D1133E;	7.3103352208072E-4	0.292
18	13068988	C	A	18	13068989	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.C4960A:p.Q1654K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.C3760A:p.Q1254K;ENSG00000101639:ENST00000325971:exon23:c.C3172A:p.Q1058K;ENSG00000101639:ENST00000506447:exon25:c.C4960A:p.Q1654K;ENSG00000101639:ENST00000430049:exon15:c.C3535A:p.Q1179K;	0.943671580079852	0.686
18	13068988	C	G	18	13068989	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.C4960G:p.Q1654E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.C3760G:p.Q1254E;ENSG00000101639:ENST00000325971:exon23:c.C3172G:p.Q1058E;ENSG00000101639:ENST00000506447:exon25:c.C4960G:p.Q1654E;ENSG00000101639:ENST00000430049:exon15:c.C3535G:p.Q1179E;	0.989860154663422	0.744
18	13068988	C	T	18	13068989	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon25:c.C4960T:p.Q1654X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon16:c.C3760T:p.Q1254X;ENSG00000101639:ENST00000325971:exon23:c.C3172T:p.Q1058X;ENSG00000101639:ENST00000506447:exon25:c.C4960T:p.Q1654X;ENSG00000101639:ENST00000430049:exon15:c.C3535T:p.Q1179X;	0.999919922083202	0.996
18	13068989	A	C	18	13068990	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.A4961C:p.Q1654P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.A3761C:p.Q1254P;ENSG00000101639:ENST00000325971:exon23:c.A3173C:p.Q1058P;ENSG00000101639:ENST00000506447:exon25:c.A4961C:p.Q1654P;ENSG00000101639:ENST00000430049:exon15:c.A3536C:p.Q1179P;	0.99990700665556	0.992
18	13068989	A	G	18	13068990	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.A4961G:p.Q1654R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.A3761G:p.Q1254R;ENSG00000101639:ENST00000325971:exon23:c.A3173G:p.Q1058R;ENSG00000101639:ENST00000506447:exon25:c.A4961G:p.Q1654R;ENSG00000101639:ENST00000430049:exon15:c.A3536G:p.Q1179R;	0.999959293478156	1.0
18	13068989	A	T	18	13068990	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.A4961T:p.Q1654L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.A3761T:p.Q1254L;ENSG00000101639:ENST00000325971:exon23:c.A3173T:p.Q1058L;ENSG00000101639:ENST00000506447:exon25:c.A4961T:p.Q1654L;ENSG00000101639:ENST00000430049:exon15:c.A3536T:p.Q1179L;	0.999981652586064	1.0
18	13068990	G	A	18	13068991	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon25:c.G4962A:p.Q1654Q;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.G3762A:p.Q1254Q;ENSG00000101639:ENST00000325971:exon23:c.G3174A:p.Q1058Q;ENSG00000101639:ENST00000506447:exon25:c.G4962A:p.Q1654Q;ENSG00000101639:ENST00000430049:exon15:c.G3537A:p.Q1179Q;	0.999977490288133	0.99
18	13068990	G	C	18	13068991	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.G4962C:p.Q1654H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.G3762C:p.Q1254H;ENSG00000101639:ENST00000325971:exon23:c.G3174C:p.Q1058H;ENSG00000101639:ENST00000506447:exon25:c.G4962C:p.Q1654H;ENSG00000101639:ENST00000430049:exon15:c.G3537C:p.Q1179H;	0.999997925665413	1.0
18	13068990	G	T	18	13068991	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon25:c.G4962T:p.Q1654H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon16:c.G3762T:p.Q1254H;ENSG00000101639:ENST00000325971:exon23:c.G3174T:p.Q1058H;ENSG00000101639:ENST00000506447:exon25:c.G4962T:p.Q1654H;ENSG00000101639:ENST00000430049:exon15:c.G3537T:p.Q1179H;	0.999995553603527	1.0
18	13068991	G	A	18	13068992	y	y	splicing	CEP192(NM_032142:exon25:c.4962+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3174+1G>A;ENST00000506447:exon25:c.4962+1G>A;ENST00000513432:exon19:c.5701+1G>A;ENST00000430049:exon15:c.3537+1G>A;ENST00000511820:exon15:c.3578+1G>A;ENST00000510237:exon16:c.3762+1G>A;ENST00000589993:exon5:c.605+1G>A)	.	.	0.999965316651096	0.952
18	13068991	G	C	18	13068992	y	y	splicing	CEP192(NM_032142:exon25:c.4962+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3174+1G>C;ENST00000506447:exon25:c.4962+1G>C;ENST00000513432:exon19:c.5701+1G>C;ENST00000430049:exon15:c.3537+1G>C;ENST00000511820:exon15:c.3578+1G>C;ENST00000510237:exon16:c.3762+1G>C;ENST00000589993:exon5:c.605+1G>C)	.	.	0.999965316651096	0.946
18	13068991	G	T	18	13068992	y	y	splicing	CEP192(NM_032142:exon25:c.4962+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3174+1G>T;ENST00000506447:exon25:c.4962+1G>T;ENST00000513432:exon19:c.5701+1G>T;ENST00000430049:exon15:c.3537+1G>T;ENST00000511820:exon15:c.3578+1G>T;ENST00000510237:exon16:c.3762+1G>T;ENST00000589993:exon5:c.605+1G>T)	.	.	0.999965316651096	0.952
18	13068992	T	A	18	13068993	y	y	splicing	CEP192(NM_032142:exon25:c.4962+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3174+2T>A;ENST00000506447:exon25:c.4962+2T>A;ENST00000513432:exon19:c.5701+2T>A;ENST00000430049:exon15:c.3537+2T>A;ENST00000511820:exon15:c.3578+2T>A;ENST00000510237:exon16:c.3762+2T>A;ENST00000589993:exon5:c.605+2T>A)	.	.	0.999957711392063	0.954
18	13068992	T	C	18	13068993	y	y	splicing	CEP192(NM_032142:exon25:c.4962+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3174+2T>C;ENST00000506447:exon25:c.4962+2T>C;ENST00000513432:exon19:c.5701+2T>C;ENST00000430049:exon15:c.3537+2T>C;ENST00000511820:exon15:c.3578+2T>C;ENST00000510237:exon16:c.3762+2T>C;ENST00000589993:exon5:c.605+2T>C)	.	.	0.981750000858986	0.674
18	13068992	T	G	18	13068993	y	y	splicing	CEP192(NM_032142:exon25:c.4962+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon23:c.3174+2T>G;ENST00000506447:exon25:c.4962+2T>G;ENST00000513432:exon19:c.5701+2T>G;ENST00000430049:exon15:c.3537+2T>G;ENST00000511820:exon15:c.3578+2T>G;ENST00000510237:exon16:c.3762+2T>G;ENST00000589993:exon5:c.605+2T>G)	.	.	0.999972413313263	0.956
18	13068993	A	C	18	13068994	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998581638929966	0.83
18	13068993	A	G	18	13068994	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.33806272734755	0.518
18	13068993	A	T	18	13068994	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999328397711424	0.922
18	13068994	G	A	18	13068995	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.0119026418963E-5	0.034
18	13068994	G	C	18	13068995	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.03731606223755E-5	0.034
18	13068994	G	T	18	13068995	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.50851891048745E-5	0.034
18	13068995	C	A	18	13068996	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.1014357148136E-4	0.016
18	13068995	C	G	18	13068996	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.43933405267007E-5	0.006
18	13068995	C	T	18	13068996	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00158852731337934	0.168
18	13068996	C	A	18	13068997	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.53601361319729E-4	0.074
18	13068996	C	G	18	13068997	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.1673876856282E-4	0.032
18	13068996	C	T	18	13068997	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.79155988805484E-5	0.04
18	13068997	T	A	18	13068998	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.02259198122072E-5	0.01
18	13068997	T	C	18	13068998	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.02259198122072E-5	0.014
18	13068997	T	G	18	13068998	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.8631101413714E-5	0.016
18	13068998	C	A	18	13068999	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.05484231850463E-5	0.048
18	13068998	C	G	18	13068999	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.05484231850463E-5	0.042
18	13068998	C	T	18	13068999	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.05484231850463E-5	0.038
18	13069076	C	A	18	13069077	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.458244576806E-5	0.08
18	13069076	C	G	18	13069077	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.08894204990141E-4	0.1
18	13069076	C	T	18	13069077	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.46114646016127E-5	0.112
18	13069077	C	A	18	13069078	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.17239783648324E-4	0.062
18	13069077	C	G	18	13069078	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.74920060078866E-4	0.09
18	13069077	C	T	18	13069078	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.69606408988366E-5	0.002
18	13069078	C	A	18	13069079	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.54495756209895E-4	0.134
18	13069078	C	G	18	13069079	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.92367577943635E-4	0.058
18	13069078	C	T	18	13069079	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.81555318630764E-5	0.13
18	13069079	A	C	18	13069080	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.88423734433078E-5	0.046
18	13069079	A	G	18	13069080	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.35221500959924E-5	0.062
18	13069079	A	T	18	13069080	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.83643701966011E-5	0.022
18	13069080	T	A	18	13069081	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00150344069200389	0.252
18	13069080	T	C	18	13069081	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.91522234049907E-5	0.014
18	13069080	T	G	18	13069081	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999543864119856	0.982
18	13069081	C	A	18	13069082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00210398535798923	0.134
18	13069081	C	G	18	13069082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00183938016594994	0.14
18	13069081	C	T	18	13069082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.26527907589021E-5	0.016
18	13069082	C	A	18	13069083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0102223771557719	0.206
18	13069082	C	G	18	13069083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0170067733873535	0.204
18	13069082	C	T	18	13069083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.33750071034371E-4	0.026
18	13069083	T	A	18	13069084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0750844216456571	0.504
18	13069083	T	C	18	13069084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00105949861976118	0.142
18	13069083	T	G	18	13069084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.347395741037575	0.578
18	13069084	C	A	18	13069085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.4699846003632E-5	0.004
18	13069084	C	G	18	13069085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.42215618057272E-5	0.046
18	13069084	C	T	18	13069085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.90545283875497E-5	0.008
18	13069085	C	A	18	13069086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.959716745205629	0.808
18	13069085	C	G	18	13069086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999506123895294	0.9
18	13069085	C	T	18	13069086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.98482323686012E-4	0.204
18	13069086	A	C	18	13069087	y	y	splicing	CEP192(NM_032142:exon26:c.4963-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3175-2A>C;ENST00000506447:exon26:c.4963-2A>C;ENST00000513432:exon20:c.5702-2A>C;ENST00000430049:exon16:c.3538-2A>C;ENST00000511820:exon16:c.3579-2A>C;ENST00000510237:exon17:c.3763-2A>C;ENST00000589993:exon6:c.606-2A>C)	.	.	0.99993872479901	0.946
18	13069086	A	G	18	13069087	y	y	splicing	CEP192(NM_032142:exon26:c.4963-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3175-2A>G;ENST00000506447:exon26:c.4963-2A>G;ENST00000513432:exon20:c.5702-2A>G;ENST00000430049:exon16:c.3538-2A>G;ENST00000511820:exon16:c.3579-2A>G;ENST00000510237:exon17:c.3763-2A>G;ENST00000589993:exon6:c.606-2A>G)	.	.	0.99993872479901	0.946
18	13069086	A	T	18	13069087	y	y	splicing	CEP192(NM_032142:exon26:c.4963-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3175-2A>T;ENST00000506447:exon26:c.4963-2A>T;ENST00000513432:exon20:c.5702-2A>T;ENST00000430049:exon16:c.3538-2A>T;ENST00000511820:exon16:c.3579-2A>T;ENST00000510237:exon17:c.3763-2A>T;ENST00000589993:exon6:c.606-2A>T)	.	.	0.99993872479901	0.938
18	13069087	G	A	18	13069088	y	y	splicing	CEP192(NM_032142:exon26:c.4963-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3175-1G>A;ENST00000506447:exon26:c.4963-1G>A;ENST00000513432:exon20:c.5702-1G>A;ENST00000430049:exon16:c.3538-1G>A;ENST00000511820:exon16:c.3579-1G>A;ENST00000510237:exon17:c.3763-1G>A;ENST00000589993:exon6:c.606-1G>A)	.	.	0.999989125585301	0.942
18	13069087	G	C	18	13069088	y	y	splicing	CEP192(NM_032142:exon26:c.4963-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3175-1G>C;ENST00000506447:exon26:c.4963-1G>C;ENST00000513432:exon20:c.5702-1G>C;ENST00000430049:exon16:c.3538-1G>C;ENST00000511820:exon16:c.3579-1G>C;ENST00000510237:exon17:c.3763-1G>C;ENST00000589993:exon6:c.606-1G>C)	.	.	0.999980524662349	0.934
18	13069087	G	T	18	13069088	y	y	splicing	CEP192(NM_032142:exon26:c.4963-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3175-1G>T;ENST00000506447:exon26:c.4963-1G>T;ENST00000513432:exon20:c.5702-1G>T;ENST00000430049:exon16:c.3538-1G>T;ENST00000511820:exon16:c.3579-1G>T;ENST00000510237:exon17:c.3763-1G>T;ENST00000589993:exon6:c.606-1G>T)	.	.	0.999980524662349	0.94
18	13069088	A	C	18	13069089	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.A4963C:p.T1655P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.A3763C:p.T1255P;ENSG00000101639:ENST00000325971:exon24:c.A3175C:p.T1059P;ENSG00000101639:ENST00000506447:exon26:c.A4963C:p.T1655P;ENSG00000101639:ENST00000430049:exon16:c.A3538C:p.T1180P;	0.926124332908462	0.586
18	13069088	A	G	18	13069089	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.A4963G:p.T1655A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.A3763G:p.T1255A;ENSG00000101639:ENST00000325971:exon24:c.A3175G:p.T1059A;ENSG00000101639:ENST00000506447:exon26:c.A4963G:p.T1655A;ENSG00000101639:ENST00000430049:exon16:c.A3538G:p.T1180A;	0.508336448618859	0.318
18	13069088	A	T	18	13069089	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.A4963T:p.T1655S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.A3763T:p.T1255S;ENSG00000101639:ENST00000325971:exon24:c.A3175T:p.T1059S;ENSG00000101639:ENST00000506447:exon26:c.A4963T:p.T1655S;ENSG00000101639:ENST00000430049:exon16:c.A3538T:p.T1180S;	0.852943722596932	0.546
18	13069089	C	A	18	13069090	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.C4964A:p.T1655K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.C3764A:p.T1255K;ENSG00000101639:ENST00000325971:exon24:c.C3176A:p.T1059K;ENSG00000101639:ENST00000506447:exon26:c.C4964A:p.T1655K;ENSG00000101639:ENST00000430049:exon16:c.C3539A:p.T1180K;	0.986946409801761	0.844
18	13069089	C	G	18	13069090	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.C4964G:p.T1655R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.C3764G:p.T1255R;ENSG00000101639:ENST00000325971:exon24:c.C3176G:p.T1059R;ENSG00000101639:ENST00000506447:exon26:c.C4964G:p.T1655R;ENSG00000101639:ENST00000430049:exon16:c.C3539G:p.T1180R;	0.0180416642699867	0.092
18	13069089	C	T	18	13069090	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.C4964T:p.T1655M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.C3764T:p.T1255M;ENSG00000101639:ENST00000325971:exon24:c.C3176T:p.T1059M;ENSG00000101639:ENST00000506447:exon26:c.C4964T:p.T1655M;ENSG00000101639:ENST00000430049:exon16:c.C3539T:p.T1180M;	0.305486029132999	0.456
18	13069178	A	C	18	13069179	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.A5053C:p.K1685Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.A3853C:p.K1285Q;ENSG00000101639:ENST00000325971:exon24:c.A3265C:p.K1089Q;ENSG00000101639:ENST00000506447:exon26:c.A5053C:p.K1685Q;ENSG00000101639:ENST00000430049:exon16:c.A3628C:p.K1210Q;	0.721238280161029	0.634
18	13069178	A	G	18	13069179	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.A5053G:p.K1685E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.A3853G:p.K1285E;ENSG00000101639:ENST00000325971:exon24:c.A3265G:p.K1089E;ENSG00000101639:ENST00000506447:exon26:c.A5053G:p.K1685E;ENSG00000101639:ENST00000430049:exon16:c.A3628G:p.K1210E;	0.24354449820094	0.43
18	13069178	A	T	18	13069179	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon26:c.A5053T:p.K1685X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon17:c.A3853T:p.K1285X;ENSG00000101639:ENST00000325971:exon24:c.A3265T:p.K1089X;ENSG00000101639:ENST00000506447:exon26:c.A5053T:p.K1685X;ENSG00000101639:ENST00000430049:exon16:c.A3628T:p.K1210X;	0.956540590289511	0.74
18	13069179	A	C	18	13069180	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.A5054C:p.K1685T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.A3854C:p.K1285T;ENSG00000101639:ENST00000325971:exon24:c.A3266C:p.K1089T;ENSG00000101639:ENST00000506447:exon26:c.A5054C:p.K1685T;ENSG00000101639:ENST00000430049:exon16:c.A3629C:p.K1210T;	0.316636251319491	0.58
18	13069179	A	G	18	13069180	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.A5054G:p.K1685R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.A3854G:p.K1285R;ENSG00000101639:ENST00000325971:exon24:c.A3266G:p.K1089R;ENSG00000101639:ENST00000506447:exon26:c.A5054G:p.K1685R;ENSG00000101639:ENST00000430049:exon16:c.A3629G:p.K1210R;	0.664838920337876	0.598
18	13069179	A	T	18	13069180	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.A5054T:p.K1685M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.A3854T:p.K1285M;ENSG00000101639:ENST00000325971:exon24:c.A3266T:p.K1089M;ENSG00000101639:ENST00000506447:exon26:c.A5054T:p.K1685M;ENSG00000101639:ENST00000430049:exon16:c.A3629T:p.K1210M;	0.887091738158872	0.654
18	13069180	G	A	18	13069181	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon26:c.G5055A:p.K1685K;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.G3855A:p.K1285K;ENSG00000101639:ENST00000325971:exon24:c.G3267A:p.K1089K;ENSG00000101639:ENST00000506447:exon26:c.G5055A:p.K1685K;ENSG00000101639:ENST00000430049:exon16:c.G3630A:p.K1210K;	0.999966994505257	0.992
18	13069180	G	C	18	13069181	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.G5055C:p.K1685N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.G3855C:p.K1285N;ENSG00000101639:ENST00000325971:exon24:c.G3267C:p.K1089N;ENSG00000101639:ENST00000506447:exon26:c.G5055C:p.K1685N;ENSG00000101639:ENST00000430049:exon16:c.G3630C:p.K1210N;	0.999995157749431	0.994
18	13069180	G	T	18	13069181	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon26:c.G5055T:p.K1685N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon17:c.G3855T:p.K1285N;ENSG00000101639:ENST00000325971:exon24:c.G3267T:p.K1089N;ENSG00000101639:ENST00000506447:exon26:c.G5055T:p.K1685N;ENSG00000101639:ENST00000430049:exon16:c.G3630T:p.K1210N;	0.999971551503302	1.0
18	13069181	G	A	18	13069182	y	y	splicing	CEP192(NM_032142:exon26:c.5055+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3267+1G>A;ENST00000506447:exon26:c.5055+1G>A;ENST00000513432:exon20:c.5794+1G>A;ENST00000430049:exon16:c.3630+1G>A;ENST00000511820:exon16:c.3671+1G>A;ENST00000510237:exon17:c.3855+1G>A;ENST00000589993:exon6:c.698+1G>A)	.	.	0.999990361384395	0.938
18	13069181	G	C	18	13069182	y	y	splicing	CEP192(NM_032142:exon26:c.5055+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3267+1G>C;ENST00000506447:exon26:c.5055+1G>C;ENST00000513432:exon20:c.5794+1G>C;ENST00000430049:exon16:c.3630+1G>C;ENST00000511820:exon16:c.3671+1G>C;ENST00000510237:exon17:c.3855+1G>C;ENST00000589993:exon6:c.698+1G>C)	.	.	0.999990361384395	0.936
18	13069181	G	T	18	13069182	y	y	splicing	CEP192(NM_032142:exon26:c.5055+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3267+1G>T;ENST00000506447:exon26:c.5055+1G>T;ENST00000513432:exon20:c.5794+1G>T;ENST00000430049:exon16:c.3630+1G>T;ENST00000511820:exon16:c.3671+1G>T;ENST00000510237:exon17:c.3855+1G>T;ENST00000589993:exon6:c.698+1G>T)	.	.	0.999990361384395	0.938
18	13069182	T	A	18	13069183	y	y	splicing	CEP192(NM_032142:exon26:c.5055+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3267+2T>A;ENST00000506447:exon26:c.5055+2T>A;ENST00000513432:exon20:c.5794+2T>A;ENST00000430049:exon16:c.3630+2T>A;ENST00000511820:exon16:c.3671+2T>A;ENST00000510237:exon17:c.3855+2T>A;ENST00000589993:exon6:c.698+2T>A)	.	.	0.999988247793601	0.928
18	13069182	T	C	18	13069183	y	y	splicing	CEP192(NM_032142:exon26:c.5055+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3267+2T>C;ENST00000506447:exon26:c.5055+2T>C;ENST00000513432:exon20:c.5794+2T>C;ENST00000430049:exon16:c.3630+2T>C;ENST00000511820:exon16:c.3671+2T>C;ENST00000510237:exon17:c.3855+2T>C;ENST00000589993:exon6:c.698+2T>C)	.	.	0.98918007292081	0.662
18	13069182	T	G	18	13069183	y	y	splicing	CEP192(NM_032142:exon26:c.5055+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon24:c.3267+2T>G;ENST00000506447:exon26:c.5055+2T>G;ENST00000513432:exon20:c.5794+2T>G;ENST00000430049:exon16:c.3630+2T>G;ENST00000511820:exon16:c.3671+2T>G;ENST00000510237:exon17:c.3855+2T>G;ENST00000589993:exon6:c.698+2T>G)	.	.	0.999988247793601	0.928
18	13069183	A	C	18	13069184	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.991453350809811	0.794
18	13069183	A	G	18	13069184	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.375606143110171	0.508
18	13069183	A	T	18	13069184	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99260912288253	0.75
18	13069184	T	A	18	13069185	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.39331666184505E-5	0.026
18	13069184	T	C	18	13069185	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.24997635140143E-4	0.028
18	13069184	T	G	18	13069185	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.13059005636672E-5	0.012
18	13069185	G	A	18	13069186	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.623032623404727	0.516
18	13069185	G	C	18	13069186	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.797474303052981	0.562
18	13069185	G	T	18	13069186	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996414292702282	0.73
18	13069186	C	A	18	13069187	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.39859165660953E-4	0.004
18	13069186	C	G	18	13069187	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.58892470825032E-5	0.036
18	13069186	C	T	18	13069187	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.40466882551175E-5	0.008
18	13069187	A	C	18	13069188	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.9635955398612E-5	0.002
18	13069187	A	G	18	13069188	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.20687394133202E-5	0.0
18	13069187	A	T	18	13069188	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.42095014750824E-5	0.0
18	13069188	C	A	18	13069189	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.80012890448795E-5	0.008
18	13069188	C	G	18	13069189	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.80012890448795E-5	0.006
18	13069188	C	T	18	13069189	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.93278636257392E-5	0.01
18	13069725	A	C	18	13069726	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.98501777021816E-5	0.0
18	13069725	A	G	18	13069726	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.24398156488905E-5	0.026
18	13069725	A	T	18	13069726	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.875108102029E-5	0.002
18	13069726	A	C	18	13069727	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00108985816610577	0.024
18	13069726	A	G	18	13069727	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997444627543219	0.882
18	13069726	A	T	18	13069727	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0022941565294683	0.094
18	13069727	C	A	18	13069728	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00345895057651306	0.098
18	13069727	C	G	18	13069728	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999926139392744	0.988
18	13069727	C	T	18	13069728	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.71438763676004E-4	0.002
18	13069728	T	A	18	13069729	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.166200867713998	0.438
18	13069728	T	C	18	13069729	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.70332856338232E-4	0.08
18	13069728	T	G	18	13069729	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.618844066629143	0.392
18	13069729	A	C	18	13069730	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.2493842624121E-4	0.02
18	13069729	A	G	18	13069730	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.85253251694128E-5	0.008
18	13069729	A	T	18	13069730	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.46222112443957E-4	0.05
18	13069730	T	A	18	13069731	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0719872358376304	0.292
18	13069730	T	C	18	13069731	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.07558623331401E-4	0.096
18	13069730	T	G	18	13069731	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999963329846126	0.976
18	13069731	A	C	18	13069732	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.78778313796105E-5	0.0
18	13069731	A	G	18	13069732	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.56957545180075E-5	0.004
18	13069731	A	T	18	13069732	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.78778313796105E-5	0.006
18	13069732	T	A	18	13069733	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.87130919367912	0.8
18	13069732	T	C	18	13069733	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0475329477775601	0.274
18	13069732	T	G	18	13069733	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999923687042175	0.94
18	13069733	T	A	18	13069734	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00969773985641744	0.144
18	13069733	T	C	18	13069734	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00288541882991522	0.024
18	13069733	T	G	18	13069734	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0640581319552463	0.118
18	13069734	T	A	18	13069735	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.784084304236689	0.528
18	13069734	T	C	18	13069735	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42791964255017E-4	0.094
18	13069734	T	G	18	13069735	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999542250315276	0.88
18	13069735	A	C	18	13069736	y	y	splicing	CEP192(NM_032142:exon27:c.5056-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3268-2A>C;ENST00000506447:exon27:c.5056-2A>C;ENST00000513432:exon21:c.5795-2A>C;ENST00000430049:exon17:c.3631-2A>C;ENST00000511820:exon17:c.3672-2A>C;ENST00000510237:exon18:c.3856-2A>C;ENST00000589993:exon7:c.699-2A>C)	.	.	0.999983459627143	0.928
18	13069735	A	G	18	13069736	y	y	splicing	CEP192(NM_032142:exon27:c.5056-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3268-2A>G;ENST00000506447:exon27:c.5056-2A>G;ENST00000513432:exon21:c.5795-2A>G;ENST00000430049:exon17:c.3631-2A>G;ENST00000511820:exon17:c.3672-2A>G;ENST00000510237:exon18:c.3856-2A>G;ENST00000589993:exon7:c.699-2A>G)	.	.	0.999983459627143	0.928
18	13069735	A	T	18	13069736	y	y	splicing	CEP192(NM_032142:exon27:c.5056-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3268-2A>T;ENST00000506447:exon27:c.5056-2A>T;ENST00000513432:exon21:c.5795-2A>T;ENST00000430049:exon17:c.3631-2A>T;ENST00000511820:exon17:c.3672-2A>T;ENST00000510237:exon18:c.3856-2A>T;ENST00000589993:exon7:c.699-2A>T)	.	.	0.999990764389106	0.93
18	13069736	G	A	18	13069737	y	y	splicing	CEP192(NM_032142:exon27:c.5056-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3268-1G>A;ENST00000506447:exon27:c.5056-1G>A;ENST00000513432:exon21:c.5795-1G>A;ENST00000430049:exon17:c.3631-1G>A;ENST00000511820:exon17:c.3672-1G>A;ENST00000510237:exon18:c.3856-1G>A;ENST00000589993:exon7:c.699-1G>A)	.	.	0.999981247005408	0.928
18	13069736	G	C	18	13069737	y	y	splicing	CEP192(NM_032142:exon27:c.5056-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3268-1G>C;ENST00000506447:exon27:c.5056-1G>C;ENST00000513432:exon21:c.5795-1G>C;ENST00000430049:exon17:c.3631-1G>C;ENST00000511820:exon17:c.3672-1G>C;ENST00000510237:exon18:c.3856-1G>C;ENST00000589993:exon7:c.699-1G>C)	.	.	0.999951608398927	0.926
18	13069736	G	T	18	13069737	y	y	splicing	CEP192(NM_032142:exon27:c.5056-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3268-1G>T;ENST00000506447:exon27:c.5056-1G>T;ENST00000513432:exon21:c.5795-1G>T;ENST00000430049:exon17:c.3631-1G>T;ENST00000511820:exon17:c.3672-1G>T;ENST00000510237:exon18:c.3856-1G>T;ENST00000589993:exon7:c.699-1G>T)	.	.	0.999951608398927	0.928
18	13069737	G	A	18	13069738	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.G5056A:p.V1686I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.G3856A:p.V1286I;ENSG00000101639:ENST00000325971:exon25:c.G3268A:p.V1090I;ENSG00000101639:ENST00000506447:exon27:c.G5056A:p.V1686I;ENSG00000101639:ENST00000430049:exon17:c.G3631A:p.V1211I;	0.015575264527847	0.224
18	13069737	G	C	18	13069738	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.G5056C:p.V1686L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.G3856C:p.V1286L;ENSG00000101639:ENST00000325971:exon25:c.G3268C:p.V1090L;ENSG00000101639:ENST00000506447:exon27:c.G5056C:p.V1686L;ENSG00000101639:ENST00000430049:exon17:c.G3631C:p.V1211L;	0.985854774695158	0.85
18	13069737	G	T	18	13069738	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.G5056T:p.V1686F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.G3856T:p.V1286F;ENSG00000101639:ENST00000325971:exon25:c.G3268T:p.V1090F;ENSG00000101639:ENST00000506447:exon27:c.G5056T:p.V1686F;ENSG00000101639:ENST00000430049:exon17:c.G3631T:p.V1211F;	0.999376823154569	0.918
18	13069738	T	A	18	13069739	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.T5057A:p.V1686D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.T3857A:p.V1286D;ENSG00000101639:ENST00000325971:exon25:c.T3269A:p.V1090D;ENSG00000101639:ENST00000506447:exon27:c.T5057A:p.V1686D;ENSG00000101639:ENST00000430049:exon17:c.T3632A:p.V1211D;	0.526190940308738	0.37
18	13069738	T	C	18	13069739	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.T5057C:p.V1686A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.T3857C:p.V1286A;ENSG00000101639:ENST00000325971:exon25:c.T3269C:p.V1090A;ENSG00000101639:ENST00000506447:exon27:c.T5057C:p.V1686A;ENSG00000101639:ENST00000430049:exon17:c.T3632C:p.V1211A;	0.49175805743392	0.444
18	13069738	T	G	18	13069739	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.T5057G:p.V1686G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.T3857G:p.V1286G;ENSG00000101639:ENST00000325971:exon25:c.T3269G:p.V1090G;ENSG00000101639:ENST00000506447:exon27:c.T5057G:p.V1686G;ENSG00000101639:ENST00000430049:exon17:c.T3632G:p.V1211G;	0.121109270033474	0.222
18	13069853	A	C	18	13069854	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.A5172C:p.E1724D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.A3972C:p.E1324D;ENSG00000101639:ENST00000325971:exon25:c.A3384C:p.E1128D;ENSG00000101639:ENST00000506447:exon27:c.A5172C:p.E1724D;ENSG00000101639:ENST00000430049:exon17:c.A3747C:p.E1249D;	5.48656964764914E-5	0.0
18	13069853	A	G	18	13069854	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon27:c.A5172G:p.E1724E;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.A3972G:p.E1324E;ENSG00000101639:ENST00000325971:exon25:c.A3384G:p.E1128E;ENSG00000101639:ENST00000506447:exon27:c.A5172G:p.E1724E;ENSG00000101639:ENST00000430049:exon17:c.A3747G:p.E1249E;	2.13453521639501E-4	0.05
18	13069853	A	T	18	13069854	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.A5172T:p.E1724D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.A3972T:p.E1324D;ENSG00000101639:ENST00000325971:exon25:c.A3384T:p.E1128D;ENSG00000101639:ENST00000506447:exon27:c.A5172T:p.E1724D;ENSG00000101639:ENST00000430049:exon17:c.A3747T:p.E1249D;	0.0035451430567579	0.26
18	13069854	A	C	18	13069855	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon27:c.A5173C:p.R1725R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.A3973C:p.R1325R;ENSG00000101639:ENST00000325971:exon25:c.A3385C:p.R1129R;ENSG00000101639:ENST00000506447:exon27:c.A5173C:p.R1725R;ENSG00000101639:ENST00000430049:exon17:c.A3748C:p.R1250R;	0.835197803886208	0.606
18	13069854	A	G	18	13069855	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.A5173G:p.R1725G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.A3973G:p.R1325G;ENSG00000101639:ENST00000325971:exon25:c.A3385G:p.R1129G;ENSG00000101639:ENST00000506447:exon27:c.A5173G:p.R1725G;ENSG00000101639:ENST00000430049:exon17:c.A3748G:p.R1250G;	0.912973012464794	0.682
18	13069854	A	T	18	13069855	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.A5173T:p.R1725W;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.A3973T:p.R1325W;ENSG00000101639:ENST00000325971:exon25:c.A3385T:p.R1129W;ENSG00000101639:ENST00000506447:exon27:c.A5173T:p.R1725W;ENSG00000101639:ENST00000430049:exon17:c.A3748T:p.R1250W;	0.999838988562296	0.992
18	13069855	G	A	18	13069856	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.G5174A:p.R1725K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.G3974A:p.R1325K;ENSG00000101639:ENST00000325971:exon25:c.G3386A:p.R1129K;ENSG00000101639:ENST00000506447:exon27:c.G5174A:p.R1725K;ENSG00000101639:ENST00000430049:exon17:c.G3749A:p.R1250K;	0.999981814411367	1.0
18	13069855	G	C	18	13069856	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.G5174C:p.R1725T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.G3974C:p.R1325T;ENSG00000101639:ENST00000325971:exon25:c.G3386C:p.R1129T;ENSG00000101639:ENST00000506447:exon27:c.G5174C:p.R1725T;ENSG00000101639:ENST00000430049:exon17:c.G3749C:p.R1250T;	0.999989197773836	0.998
18	13069855	G	T	18	13069856	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon27:c.G5174T:p.R1725M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon18:c.G3974T:p.R1325M;ENSG00000101639:ENST00000325971:exon25:c.G3386T:p.R1129M;ENSG00000101639:ENST00000506447:exon27:c.G5174T:p.R1725M;ENSG00000101639:ENST00000430049:exon17:c.G3749T:p.R1250M;	0.999990846406755	0.99
18	13069856	G	A	18	13069857	y	y	splicing	CEP192(NM_032142:exon27:c.5174+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3386+1G>A;ENST00000506447:exon27:c.5174+1G>A;ENST00000513432:exon21:c.5913+1G>A;ENST00000430049:exon17:c.3749+1G>A;ENST00000511820:exon17:c.3790+1G>A;ENST00000510237:exon18:c.3974+1G>A;ENST00000589993:exon7:c.817+1G>A)	.	.	0.999969242257053	0.9
18	13069856	G	C	18	13069857	y	y	splicing	CEP192(NM_032142:exon27:c.5174+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3386+1G>C;ENST00000506447:exon27:c.5174+1G>C;ENST00000513432:exon21:c.5913+1G>C;ENST00000430049:exon17:c.3749+1G>C;ENST00000511820:exon17:c.3790+1G>C;ENST00000510237:exon18:c.3974+1G>C;ENST00000589993:exon7:c.817+1G>C)	.	.	0.999965143305126	0.886
18	13069856	G	T	18	13069857	y	y	splicing	CEP192(NM_032142:exon27:c.5174+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3386+1G>T;ENST00000506447:exon27:c.5174+1G>T;ENST00000513432:exon21:c.5913+1G>T;ENST00000430049:exon17:c.3749+1G>T;ENST00000511820:exon17:c.3790+1G>T;ENST00000510237:exon18:c.3974+1G>T;ENST00000589993:exon7:c.817+1G>T)	.	.	0.999968430223941	0.874
18	13069857	T	A	18	13069858	y	y	splicing	CEP192(NM_032142:exon27:c.5174+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3386+2T>A;ENST00000506447:exon27:c.5174+2T>A;ENST00000513432:exon21:c.5913+2T>A;ENST00000430049:exon17:c.3749+2T>A;ENST00000511820:exon17:c.3790+2T>A;ENST00000510237:exon18:c.3974+2T>A;ENST00000589993:exon7:c.817+2T>A)	.	.	0.999972155025474	0.864
18	13069857	T	C	18	13069858	y	y	splicing	CEP192(NM_032142:exon27:c.5174+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3386+2T>C;ENST00000506447:exon27:c.5174+2T>C;ENST00000513432:exon21:c.5913+2T>C;ENST00000430049:exon17:c.3749+2T>C;ENST00000511820:exon17:c.3790+2T>C;ENST00000510237:exon18:c.3974+2T>C;ENST00000589993:exon7:c.817+2T>C)	.	.	0.935289457979121	0.564
18	13069857	T	G	18	13069858	y	y	splicing	CEP192(NM_032142:exon27:c.5174+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon25:c.3386+2T>G;ENST00000506447:exon27:c.5174+2T>G;ENST00000513432:exon21:c.5913+2T>G;ENST00000430049:exon17:c.3749+2T>G;ENST00000511820:exon17:c.3790+2T>G;ENST00000510237:exon18:c.3974+2T>G;ENST00000589993:exon7:c.817+2T>G)	.	.	0.999969255906173	0.856
18	13069858	A	C	18	13069859	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99991277027375	0.91
18	13069858	A	G	18	13069859	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.985721336730686	0.452
18	13069858	A	T	18	13069859	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999848695971649	0.936
18	13069859	A	C	18	13069860	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.258196618008479	0.37
18	13069859	A	G	18	13069860	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.674528568318089	0.526
18	13069859	A	T	18	13069860	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.547160852991053	0.392
18	13069860	T	A	18	13069861	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.39099667237805E-5	0.014
18	13069860	T	C	18	13069861	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.70555995758053E-6	0.0
18	13069860	T	G	18	13069861	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.72701169517227E-5	0.012
18	13069861	A	C	18	13069862	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.4393325357811E-5	0.016
18	13069861	A	G	18	13069862	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.01131347378898E-5	0.0
18	13069861	A	T	18	13069862	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.52894402799891E-5	0.014
18	13069862	T	A	18	13069863	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.16680427783628E-5	0.0
18	13069862	T	C	18	13069863	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.16680427783628E-5	0.0
18	13069862	T	G	18	13069863	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.16680427783628E-5	0.0
18	13069863	A	C	18	13069864	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.91347428418777E-4	0.014
18	13069863	A	G	18	13069864	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.77583848682756E-4	0.0
18	13069863	A	T	18	13069864	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.94681809685598E-4	0.0
18	13071026	T	A	18	13071027	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0112948328204001	0.128
18	13071026	T	C	18	13071027	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.21200329973032E-4	0.022
18	13071026	T	G	18	13071027	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00427777000979282	0.15
18	13071027	T	A	18	13071028	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0148704411688327	0.268
18	13071027	T	C	18	13071028	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00285144956508666	0.062
18	13071027	T	G	18	13071028	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00978106100339585	0.322
18	13071028	T	A	18	13071029	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00700381559543623	0.188
18	13071028	T	C	18	13071029	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.27727380876746E-4	0.018
18	13071028	T	G	18	13071029	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00345776319444552	0.212
18	13071029	C	A	18	13071030	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.87129122163119E-4	0.032
18	13071029	C	G	18	13071030	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.08869159973611E-4	0.018
18	13071029	C	T	18	13071030	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.95070748754253E-5	0.006
18	13071030	T	A	18	13071031	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00404519040360014	0.058
18	13071030	T	C	18	13071031	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.89385989241236E-4	0.0
18	13071030	T	G	18	13071031	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.32701969461775E-4	0.052
18	13071031	T	A	18	13071032	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00340509602459538	0.066
18	13071031	T	C	18	13071032	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42470933444848E-4	0.006
18	13071031	T	G	18	13071032	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.94905835561537E-4	0.034
18	13071032	T	A	18	13071033	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00455959488105242	0.114
18	13071032	T	C	18	13071033	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.2226545557874E-5	0.0
18	13071032	T	G	18	13071033	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00459380715274543	0.154
18	13071033	C	A	18	13071034	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.55097349825826E-4	0.004
18	13071033	C	G	18	13071034	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.34951681663202E-4	0.082
18	13071033	C	T	18	13071034	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.16427556116979E-5	0.004
18	13071034	T	A	18	13071035	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.30840687660444E-5	0.0
18	13071034	T	C	18	13071035	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.16990187698839E-5	0.0
18	13071034	T	G	18	13071035	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.32304693911024E-5	0.008
18	13071035	T	A	18	13071036	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0750301496451016	0.262
18	13071035	T	C	18	13071036	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.03879540623736E-5	0.038
18	13071035	T	G	18	13071036	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997668704688516	0.68
18	13071036	A	C	18	13071037	y	y	splicing	CEP192(NM_032142:exon28:c.5175-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3387-2A>C;ENST00000506447:exon28:c.5175-2A>C;ENST00000513432:exon22:c.5914-2A>C;ENST00000430049:exon18:c.3750-2A>C;ENST00000511820:exon18:c.3791-2A>C;ENST00000510237:exon19:c.3975-2A>C;ENST00000589993:exon8:c.818-2A>C)	.	.	0.999946188727699	0.934
18	13071036	A	G	18	13071037	y	y	splicing	CEP192(NM_032142:exon28:c.5175-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3387-2A>G;ENST00000506447:exon28:c.5175-2A>G;ENST00000513432:exon22:c.5914-2A>G;ENST00000430049:exon18:c.3750-2A>G;ENST00000511820:exon18:c.3791-2A>G;ENST00000510237:exon19:c.3975-2A>G;ENST00000589993:exon8:c.818-2A>G)	.	.	0.999946188727699	0.934
18	13071036	A	T	18	13071037	y	y	splicing	CEP192(NM_032142:exon28:c.5175-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3387-2A>T;ENST00000506447:exon28:c.5175-2A>T;ENST00000513432:exon22:c.5914-2A>T;ENST00000430049:exon18:c.3750-2A>T;ENST00000511820:exon18:c.3791-2A>T;ENST00000510237:exon19:c.3975-2A>T;ENST00000589993:exon8:c.818-2A>T)	.	.	0.999946188727699	0.94
18	13071037	G	A	18	13071038	y	y	splicing	CEP192(NM_032142:exon28:c.5175-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3387-1G>A;ENST00000506447:exon28:c.5175-1G>A;ENST00000513432:exon22:c.5914-1G>A;ENST00000430049:exon18:c.3750-1G>A;ENST00000511820:exon18:c.3791-1G>A;ENST00000510237:exon19:c.3975-1G>A;ENST00000589993:exon8:c.818-1G>A)	.	.	0.99993314117114	0.948
18	13071037	G	C	18	13071038	y	y	splicing	CEP192(NM_032142:exon28:c.5175-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3387-1G>C;ENST00000506447:exon28:c.5175-1G>C;ENST00000513432:exon22:c.5914-1G>C;ENST00000430049:exon18:c.3750-1G>C;ENST00000511820:exon18:c.3791-1G>C;ENST00000510237:exon19:c.3975-1G>C;ENST00000589993:exon8:c.818-1G>C)	.	.	0.999933757597683	0.948
18	13071037	G	T	18	13071038	y	y	splicing	CEP192(NM_032142:exon28:c.5175-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3387-1G>T;ENST00000506447:exon28:c.5175-1G>T;ENST00000513432:exon22:c.5914-1G>T;ENST00000430049:exon18:c.3750-1G>T;ENST00000511820:exon18:c.3791-1G>T;ENST00000510237:exon19:c.3975-1G>T;ENST00000589993:exon8:c.818-1G>T)	.	.	0.999933757597683	0.948
18	13071038	G	A	18	13071039	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon28:c.G5175A:p.R1725R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.G3975A:p.R1325R;ENSG00000101639:ENST00000325971:exon26:c.G3387A:p.R1129R;ENSG00000101639:ENST00000506447:exon28:c.G5175A:p.R1725R;ENSG00000101639:ENST00000430049:exon18:c.G3750A:p.R1250R;	0.0070853589349598	0.228
18	13071038	G	C	18	13071039	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.G5175C:p.R1725S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.G3975C:p.R1325S;ENSG00000101639:ENST00000325971:exon26:c.G3387C:p.R1129S;ENSG00000101639:ENST00000506447:exon28:c.G5175C:p.R1725S;ENSG00000101639:ENST00000430049:exon18:c.G3750C:p.R1250S;	0.229904759449481	0.428
18	13071038	G	T	18	13071039	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.G5175T:p.R1725S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.G3975T:p.R1325S;ENSG00000101639:ENST00000325971:exon26:c.G3387T:p.R1129S;ENSG00000101639:ENST00000506447:exon28:c.G5175T:p.R1725S;ENSG00000101639:ENST00000430049:exon18:c.G3750T:p.R1250S;	0.530397484512617	0.406
18	13071039	A	C	18	13071040	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.A5176C:p.I1726L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A3976C:p.I1326L;ENSG00000101639:ENST00000325971:exon26:c.A3388C:p.I1130L;ENSG00000101639:ENST00000506447:exon28:c.A5176C:p.I1726L;ENSG00000101639:ENST00000430049:exon18:c.A3751C:p.I1251L;	1.03855339582444E-4	0.01
18	13071039	A	G	18	13071040	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.A5176G:p.I1726V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A3976G:p.I1326V;ENSG00000101639:ENST00000325971:exon26:c.A3388G:p.I1130V;ENSG00000101639:ENST00000506447:exon28:c.A5176G:p.I1726V;ENSG00000101639:ENST00000430049:exon18:c.A3751G:p.I1251V;	6.85991740221253E-5	0.008
18	13071039	A	T	18	13071040	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.A5176T:p.I1726F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A3976T:p.I1326F;ENSG00000101639:ENST00000325971:exon26:c.A3388T:p.I1130F;ENSG00000101639:ENST00000506447:exon28:c.A5176T:p.I1726F;ENSG00000101639:ENST00000430049:exon18:c.A3751T:p.I1251F;	4.53141574188157E-5	0.11
18	13071209	A	C	18	13071210	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon28:c.A5346C:p.T1782T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A4146C:p.T1382T;ENSG00000101639:ENST00000325971:exon26:c.A3558C:p.T1186T;ENSG00000101639:ENST00000506447:exon28:c.A5346C:p.T1782T;ENSG00000101639:ENST00000430049:exon18:c.A3921C:p.T1307T;	0.00537301808266919	0.036
18	13071209	A	G	18	13071210	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon28:c.A5346G:p.T1782T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A4146G:p.T1382T;ENSG00000101639:ENST00000325971:exon26:c.A3558G:p.T1186T;ENSG00000101639:ENST00000506447:exon28:c.A5346G:p.T1782T;ENSG00000101639:ENST00000430049:exon18:c.A3921G:p.T1307T;	0.00753261945394638	0.074
18	13071209	A	T	18	13071210	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon28:c.A5346T:p.T1782T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A4146T:p.T1382T;ENSG00000101639:ENST00000325971:exon26:c.A3558T:p.T1186T;ENSG00000101639:ENST00000506447:exon28:c.A5346T:p.T1782T;ENSG00000101639:ENST00000430049:exon18:c.A3921T:p.T1307T;	0.274209209214138	0.288
18	13071210	C	A	18	13071211	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.C5347A:p.Q1783K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.C4147A:p.Q1383K;ENSG00000101639:ENST00000325971:exon26:c.C3559A:p.Q1187K;ENSG00000101639:ENST00000506447:exon28:c.C5347A:p.Q1783K;ENSG00000101639:ENST00000430049:exon18:c.C3922A:p.Q1308K;	0.291963225918194	0.422
18	13071210	C	G	18	13071211	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.C5347G:p.Q1783E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.C4147G:p.Q1383E;ENSG00000101639:ENST00000325971:exon26:c.C3559G:p.Q1187E;ENSG00000101639:ENST00000506447:exon28:c.C5347G:p.Q1783E;ENSG00000101639:ENST00000430049:exon18:c.C3922G:p.Q1308E;	0.00272933590994399	0.056
18	13071210	C	T	18	13071211	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon28:c.C5347T:p.Q1783X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon19:c.C4147T:p.Q1383X;ENSG00000101639:ENST00000325971:exon26:c.C3559T:p.Q1187X;ENSG00000101639:ENST00000506447:exon28:c.C5347T:p.Q1783X;ENSG00000101639:ENST00000430049:exon18:c.C3922T:p.Q1308X;	0.991967013881335	0.932
18	13071211	A	C	18	13071212	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.A5348C:p.Q1783P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A4148C:p.Q1383P;ENSG00000101639:ENST00000325971:exon26:c.A3560C:p.Q1187P;ENSG00000101639:ENST00000506447:exon28:c.A5348C:p.Q1783P;ENSG00000101639:ENST00000430049:exon18:c.A3923C:p.Q1308P;	0.283861488331948	0.68
18	13071211	A	G	18	13071212	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.A5348G:p.Q1783R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A4148G:p.Q1383R;ENSG00000101639:ENST00000325971:exon26:c.A3560G:p.Q1187R;ENSG00000101639:ENST00000506447:exon28:c.A5348G:p.Q1783R;ENSG00000101639:ENST00000430049:exon18:c.A3923G:p.Q1308R;	0.166297726569483	0.352
18	13071211	A	T	18	13071212	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon28:c.A5348T:p.Q1783L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon19:c.A4148T:p.Q1383L;ENSG00000101639:ENST00000325971:exon26:c.A3560T:p.Q1187L;ENSG00000101639:ENST00000506447:exon28:c.A5348T:p.Q1783L;ENSG00000101639:ENST00000430049:exon18:c.A3923T:p.Q1308L;	0.00295686117865512	0.13
18	13071212	G	A	18	13071213	y	y	splicing	CEP192(NM_032142:exon28:c.5348+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3560+1G>A;ENST00000506447:exon28:c.5348+1G>A;ENST00000513432:exon22:c.6087+1G>A;ENST00000430049:exon18:c.3923+1G>A;ENST00000511820:exon18:c.3964+1G>A;ENST00000510237:exon19:c.4148+1G>A;ENST00000589993:exon8:c.991+1G>A)	.	.	0.999981760802075	0.944
18	13071212	G	C	18	13071213	y	y	splicing	CEP192(NM_032142:exon28:c.5348+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3560+1G>C;ENST00000506447:exon28:c.5348+1G>C;ENST00000513432:exon22:c.6087+1G>C;ENST00000430049:exon18:c.3923+1G>C;ENST00000511820:exon18:c.3964+1G>C;ENST00000510237:exon19:c.4148+1G>C;ENST00000589993:exon8:c.991+1G>C)	.	.	0.999981760802075	0.944
18	13071212	G	T	18	13071213	y	y	splicing	CEP192(NM_032142:exon28:c.5348+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3560+1G>T;ENST00000506447:exon28:c.5348+1G>T;ENST00000513432:exon22:c.6087+1G>T;ENST00000430049:exon18:c.3923+1G>T;ENST00000511820:exon18:c.3964+1G>T;ENST00000510237:exon19:c.4148+1G>T;ENST00000589993:exon8:c.991+1G>T)	.	.	0.999981760802075	0.944
18	13071213	T	A	18	13071214	y	y	splicing	CEP192(NM_032142:exon28:c.5348+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3560+2T>A;ENST00000506447:exon28:c.5348+2T>A;ENST00000513432:exon22:c.6087+2T>A;ENST00000430049:exon18:c.3923+2T>A;ENST00000511820:exon18:c.3964+2T>A;ENST00000510237:exon19:c.4148+2T>A;ENST00000589993:exon8:c.991+2T>A)	.	.	0.999989917668626	0.928
18	13071213	T	C	18	13071214	y	y	splicing	CEP192(NM_032142:exon28:c.5348+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3560+2T>C;ENST00000506447:exon28:c.5348+2T>C;ENST00000513432:exon22:c.6087+2T>C;ENST00000430049:exon18:c.3923+2T>C;ENST00000511820:exon18:c.3964+2T>C;ENST00000510237:exon19:c.4148+2T>C;ENST00000589993:exon8:c.991+2T>C)	.	.	0.992323021482646	0.65
18	13071213	T	G	18	13071214	y	y	splicing	CEP192(NM_032142:exon28:c.5348+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon26:c.3560+2T>G;ENST00000506447:exon28:c.5348+2T>G;ENST00000513432:exon22:c.6087+2T>G;ENST00000430049:exon18:c.3923+2T>G;ENST00000511820:exon18:c.3964+2T>G;ENST00000510237:exon19:c.4148+2T>G;ENST00000589993:exon8:c.991+2T>G)	.	.	0.999989917668626	0.928
18	13071214	A	C	18	13071215	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99980986186527	0.882
18	13071214	A	G	18	13071215	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00434448753611891	0.15
18	13071214	A	T	18	13071215	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99969700154168	0.87
18	13071215	A	C	18	13071216	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.933891250702891	0.538
18	13071215	A	G	18	13071216	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997648362878477	0.912
18	13071215	A	T	18	13071216	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994071606243055	0.802
18	13071216	G	A	18	13071217	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999951420669311	0.992
18	13071216	G	C	18	13071217	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999951420669311	0.998
18	13071216	G	T	18	13071217	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999951420669311	0.904
18	13071217	T	A	18	13071218	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.982687018871523	0.644
18	13071217	T	C	18	13071218	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.989622907037431	0.858
18	13071217	T	G	18	13071218	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994229729114898	0.93
18	13071218	G	A	18	13071219	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.09021947256977E-5	0.004
18	13071218	G	C	18	13071219	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.23919758832573E-5	0.0
18	13071218	G	T	18	13071219	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.15671981458715E-4	0.002
18	13071219	T	A	18	13071220	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00708862068302209	0.028
18	13071219	T	C	18	13071220	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00885215703599148	0.04
18	13071219	T	G	18	13071220	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00723418390339378	0.024
18	13072742	A	C	18	13072743	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.50366419728044E-5	0.0
18	13072742	A	G	18	13072743	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.91668869781287E-5	0.02
18	13072742	A	T	18	13072743	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42040651215671E-5	0.002
18	13072743	A	C	18	13072744	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.81597143365066E-4	0.012
18	13072743	A	G	18	13072744	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998711788491941	0.93
18	13072743	A	T	18	13072744	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.22300321427727E-4	0.092
18	13072744	T	A	18	13072745	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.973867429125758	0.84
18	13072744	T	C	18	13072745	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.085619553096337	0.216
18	13072744	T	G	18	13072745	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999944039729168	0.976
18	13072745	T	A	18	13072746	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999936719533456	0.98
18	13072745	T	C	18	13072746	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.67523183744278E-4	0.046
18	13072745	T	G	18	13072746	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0232898683048689	0.5
18	13072746	G	A	18	13072747	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.55268684535438E-4	0.024
18	13072746	G	C	18	13072747	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.65002425457202E-5	0.0
18	13072746	G	T	18	13072747	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.65002425457202E-5	0.0
18	13072747	T	A	18	13072748	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.594138344091487	0.52
18	13072747	T	C	18	13072748	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0100664463048357	0.208
18	13072747	T	G	18	13072748	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.37196703134724	0.436
18	13072748	T	A	18	13072749	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0242792903763829	0.384
18	13072748	T	C	18	13072749	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.39607454863873E-4	0.016
18	13072748	T	G	18	13072749	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0342037327614702	0.362
18	13072749	T	A	18	13072750	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998742165965905	0.756
18	13072749	T	C	18	13072750	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.293765929531214	0.278
18	13072749	T	G	18	13072750	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.991276234687681	0.748
18	13072750	T	A	18	13072751	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.09208501448492E-4	0.064
18	13072750	T	C	18	13072751	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.48167105487574E-5	0.004
18	13072750	T	G	18	13072751	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.30685347729764E-4	0.128
18	13072751	T	A	18	13072752	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0246984703052382	0.338
18	13072751	T	C	18	13072752	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.24130050449259E-4	0.048
18	13072751	T	G	18	13072752	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997849260632854	0.72
18	13072752	A	C	18	13072753	y	y	splicing	CEP192(NM_032142:exon29:c.5349-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3561-2A>C;ENST00000506447:exon29:c.5349-2A>C;ENST00000513432:exon23:c.6088-2A>C;ENST00000430049:exon19:c.3924-2A>C;ENST00000511820:exon19:c.3965-2A>C;ENST00000510237:exon20:c.4149-2A>C;ENST00000589993:exon9:c.992-2A>C)	.	.	0.999988247793601	0.934
18	13072752	A	G	18	13072753	y	y	splicing	CEP192(NM_032142:exon29:c.5349-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3561-2A>G;ENST00000506447:exon29:c.5349-2A>G;ENST00000513432:exon23:c.6088-2A>G;ENST00000430049:exon19:c.3924-2A>G;ENST00000511820:exon19:c.3965-2A>G;ENST00000510237:exon20:c.4149-2A>G;ENST00000589993:exon9:c.992-2A>G)	.	.	0.999988247793601	0.934
18	13072752	A	T	18	13072753	y	y	splicing	CEP192(NM_032142:exon29:c.5349-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3561-2A>T;ENST00000506447:exon29:c.5349-2A>T;ENST00000513432:exon23:c.6088-2A>T;ENST00000430049:exon19:c.3924-2A>T;ENST00000511820:exon19:c.3965-2A>T;ENST00000510237:exon20:c.4149-2A>T;ENST00000589993:exon9:c.992-2A>T)	.	.	0.999988247793601	0.936
18	13072753	G	A	18	13072754	y	y	splicing	CEP192(NM_032142:exon29:c.5349-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3561-1G>A;ENST00000506447:exon29:c.5349-1G>A;ENST00000513432:exon23:c.6088-1G>A;ENST00000430049:exon19:c.3924-1G>A;ENST00000511820:exon19:c.3965-1G>A;ENST00000510237:exon20:c.4149-1G>A;ENST00000589993:exon9:c.992-1G>A)	.	.	0.999982737877662	0.934
18	13072753	G	C	18	13072754	y	y	splicing	CEP192(NM_032142:exon29:c.5349-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3561-1G>C;ENST00000506447:exon29:c.5349-1G>C;ENST00000513432:exon23:c.6088-1G>C;ENST00000430049:exon19:c.3924-1G>C;ENST00000511820:exon19:c.3965-1G>C;ENST00000510237:exon20:c.4149-1G>C;ENST00000589993:exon9:c.992-1G>C)	.	.	0.99995545544995	0.928
18	13072753	G	T	18	13072754	y	y	splicing	CEP192(NM_032142:exon29:c.5349-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3561-1G>T;ENST00000506447:exon29:c.5349-1G>T;ENST00000513432:exon23:c.6088-1G>T;ENST00000430049:exon19:c.3924-1G>T;ENST00000511820:exon19:c.3965-1G>T;ENST00000510237:exon20:c.4149-1G>T;ENST00000589993:exon9:c.992-1G>T)	.	.	0.999982737877662	0.928
18	13072754	G	A	18	13072755	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon29:c.G5349A:p.Q1783Q;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.G4149A:p.Q1383Q;ENSG00000101639:ENST00000325971:exon27:c.G3561A:p.Q1187Q;ENSG00000101639:ENST00000506447:exon29:c.G5349A:p.Q1783Q;ENSG00000101639:ENST00000430049:exon19:c.G3924A:p.Q1308Q;	0.697332327915858	0.484
18	13072754	G	C	18	13072755	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.G5349C:p.Q1783H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.G4149C:p.Q1383H;ENSG00000101639:ENST00000325971:exon27:c.G3561C:p.Q1187H;ENSG00000101639:ENST00000506447:exon29:c.G5349C:p.Q1783H;ENSG00000101639:ENST00000430049:exon19:c.G3924C:p.Q1308H;	0.687983229013387	0.584
18	13072754	G	T	18	13072755	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.G5349T:p.Q1783H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.G4149T:p.Q1383H;ENSG00000101639:ENST00000325971:exon27:c.G3561T:p.Q1187H;ENSG00000101639:ENST00000506447:exon29:c.G5349T:p.Q1783H;ENSG00000101639:ENST00000430049:exon19:c.G3924T:p.Q1308H;	0.843010995367601	0.57
18	13072755	C	A	18	13072756	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.C5350A:p.L1784I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.C4150A:p.L1384I;ENSG00000101639:ENST00000325971:exon27:c.C3562A:p.L1188I;ENSG00000101639:ENST00000506447:exon29:c.C5350A:p.L1784I;ENSG00000101639:ENST00000430049:exon19:c.C3925A:p.L1309I;	0.120223804775072	0.34
18	13072755	C	G	18	13072756	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.C5350G:p.L1784V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.C4150G:p.L1384V;ENSG00000101639:ENST00000325971:exon27:c.C3562G:p.L1188V;ENSG00000101639:ENST00000506447:exon29:c.C5350G:p.L1784V;ENSG00000101639:ENST00000430049:exon19:c.C3925G:p.L1309V;	0.0746376414492045	0.304
18	13072755	C	T	18	13072756	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.C5350T:p.L1784F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.C4150T:p.L1384F;ENSG00000101639:ENST00000325971:exon27:c.C3562T:p.L1188F;ENSG00000101639:ENST00000506447:exon29:c.C5350T:p.L1784F;ENSG00000101639:ENST00000430049:exon19:c.C3925T:p.L1309F;	0.185981221369619	0.48
18	13072842	C	A	18	13072843	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.C5437A:p.Q1813K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.C4237A:p.Q1413K;ENSG00000101639:ENST00000325971:exon27:c.C3649A:p.Q1217K;ENSG00000101639:ENST00000506447:exon29:c.C5437A:p.Q1813K;ENSG00000101639:ENST00000430049:exon19:c.C4012A:p.Q1338K;	0.93000307328421	0.784
18	13072842	C	G	18	13072843	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.C5437G:p.Q1813E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.C4237G:p.Q1413E;ENSG00000101639:ENST00000325971:exon27:c.C3649G:p.Q1217E;ENSG00000101639:ENST00000506447:exon29:c.C5437G:p.Q1813E;ENSG00000101639:ENST00000430049:exon19:c.C4012G:p.Q1338E;	0.942595778769181	0.664
18	13072842	C	T	18	13072843	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon29:c.C5437T:p.Q1813X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon20:c.C4237T:p.Q1413X;ENSG00000101639:ENST00000325971:exon27:c.C3649T:p.Q1217X;ENSG00000101639:ENST00000506447:exon29:c.C5437T:p.Q1813X;ENSG00000101639:ENST00000430049:exon19:c.C4012T:p.Q1338X;	0.998657169806609	0.848
18	13072843	A	C	18	13072844	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.A5438C:p.Q1813P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.A4238C:p.Q1413P;ENSG00000101639:ENST00000325971:exon27:c.A3650C:p.Q1217P;ENSG00000101639:ENST00000506447:exon29:c.A5438C:p.Q1813P;ENSG00000101639:ENST00000430049:exon19:c.A4013C:p.Q1338P;	0.999932692931157	0.996
18	13072843	A	G	18	13072844	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.A5438G:p.Q1813R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.A4238G:p.Q1413R;ENSG00000101639:ENST00000325971:exon27:c.A3650G:p.Q1217R;ENSG00000101639:ENST00000506447:exon29:c.A5438G:p.Q1813R;ENSG00000101639:ENST00000430049:exon19:c.A4013G:p.Q1338R;	0.999954952152009	0.992
18	13072843	A	T	18	13072844	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.A5438T:p.Q1813L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.A4238T:p.Q1413L;ENSG00000101639:ENST00000325971:exon27:c.A3650T:p.Q1217L;ENSG00000101639:ENST00000506447:exon29:c.A5438T:p.Q1813L;ENSG00000101639:ENST00000430049:exon19:c.A4013T:p.Q1338L;	0.99993997470454	0.998
18	13072844	G	A	18	13072845	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon29:c.G5439A:p.Q1813Q;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.G4239A:p.Q1413Q;ENSG00000101639:ENST00000325971:exon27:c.G3651A:p.Q1217Q;ENSG00000101639:ENST00000506447:exon29:c.G5439A:p.Q1813Q;ENSG00000101639:ENST00000430049:exon19:c.G4014A:p.Q1338Q;	0.999975740026698	1.0
18	13072844	G	C	18	13072845	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.G5439C:p.Q1813H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.G4239C:p.Q1413H;ENSG00000101639:ENST00000325971:exon27:c.G3651C:p.Q1217H;ENSG00000101639:ENST00000506447:exon29:c.G5439C:p.Q1813H;ENSG00000101639:ENST00000430049:exon19:c.G4014C:p.Q1338H;	0.999997610789446	1.0
18	13072844	G	T	18	13072845	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon29:c.G5439T:p.Q1813H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon20:c.G4239T:p.Q1413H;ENSG00000101639:ENST00000325971:exon27:c.G3651T:p.Q1217H;ENSG00000101639:ENST00000506447:exon29:c.G5439T:p.Q1813H;ENSG00000101639:ENST00000430049:exon19:c.G4014T:p.Q1338H;	0.999993018555097	0.998
18	13072845	G	A	18	13072846	y	y	splicing	CEP192(NM_032142:exon29:c.5439+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3651+1G>A;ENST00000506447:exon29:c.5439+1G>A;ENST00000513432:exon23:c.6178+1G>A;ENST00000430049:exon19:c.4014+1G>A;ENST00000511820:exon19:c.4055+1G>A;ENST00000510237:exon20:c.4239+1G>A;ENST00000589993:exon9:c.1082+1G>A)	.	.	0.999990361384395	0.948
18	13072845	G	C	18	13072846	y	y	splicing	CEP192(NM_032142:exon29:c.5439+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3651+1G>C;ENST00000506447:exon29:c.5439+1G>C;ENST00000513432:exon23:c.6178+1G>C;ENST00000430049:exon19:c.4014+1G>C;ENST00000511820:exon19:c.4055+1G>C;ENST00000510237:exon20:c.4239+1G>C;ENST00000589993:exon9:c.1082+1G>C)	.	.	0.999990361384395	0.948
18	13072845	G	T	18	13072846	y	y	splicing	CEP192(NM_032142:exon29:c.5439+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3651+1G>T;ENST00000506447:exon29:c.5439+1G>T;ENST00000513432:exon23:c.6178+1G>T;ENST00000430049:exon19:c.4014+1G>T;ENST00000511820:exon19:c.4055+1G>T;ENST00000510237:exon20:c.4239+1G>T;ENST00000589993:exon9:c.1082+1G>T)	.	.	0.999990361384395	0.948
18	13072846	T	A	18	13072847	y	y	splicing	CEP192(NM_032142:exon29:c.5439+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3651+2T>A;ENST00000506447:exon29:c.5439+2T>A;ENST00000513432:exon23:c.6178+2T>A;ENST00000430049:exon19:c.4014+2T>A;ENST00000511820:exon19:c.4055+2T>A;ENST00000510237:exon20:c.4239+2T>A;ENST00000589993:exon9:c.1082+2T>A)	.	.	0.999988247793601	0.946
18	13072846	T	C	18	13072847	y	y	splicing	CEP192(NM_032142:exon29:c.5439+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3651+2T>C;ENST00000506447:exon29:c.5439+2T>C;ENST00000513432:exon23:c.6178+2T>C;ENST00000430049:exon19:c.4014+2T>C;ENST00000511820:exon19:c.4055+2T>C;ENST00000510237:exon20:c.4239+2T>C;ENST00000589993:exon9:c.1082+2T>C)	.	.	0.99231226973403	0.714
18	13072846	T	G	18	13072847	y	y	splicing	CEP192(NM_032142:exon29:c.5439+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon27:c.3651+2T>G;ENST00000506447:exon29:c.5439+2T>G;ENST00000513432:exon23:c.6178+2T>G;ENST00000430049:exon19:c.4014+2T>G;ENST00000511820:exon19:c.4055+2T>G;ENST00000510237:exon20:c.4239+2T>G;ENST00000589993:exon9:c.1082+2T>G)	.	.	0.999988247793601	0.946
18	13072847	T	A	18	13072848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.59867558639135E-4	0.056
18	13072847	T	C	18	13072848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.80827264783247E-4	0.034
18	13072847	T	G	18	13072848	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.46151723561214E-5	0.12
18	13072848	C	A	18	13072849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.19140982545236E-5	0.032
18	13072848	C	G	18	13072849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.9699014746632E-4	0.044
18	13072848	C	T	18	13072849	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.20017335819762E-4	0.04
18	13072849	G	A	18	13072850	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999970741637911	0.946
18	13072849	G	C	18	13072850	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999983637580191	0.978
18	13072849	G	T	18	13072850	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999940767971178	0.974
18	13072850	T	A	18	13072851	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.850041042098585	0.512
18	13072850	T	C	18	13072851	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.724561625369158	0.574
18	13072850	T	G	18	13072851	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.192569438004855	0.486
18	13072851	A	C	18	13072852	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.44075997302668E-4	0.002
18	13072851	A	G	18	13072852	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.86562011387348E-4	0.084
18	13072851	A	T	18	13072852	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.75524164348987E-4	0.032
18	13072852	G	A	18	13072853	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.9962023246406E-4	0.01
18	13072852	G	C	18	13072853	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00120441171048119	0.02
18	13072852	G	T	18	13072853	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.89833044736009E-4	0.014
18	13072996	T	A	18	13072997	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999407030726571	0.876
18	13072996	T	C	18	13072997	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.601559266802299	0.344
18	13072996	T	G	18	13072997	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997207968836145	0.878
18	13072997	T	A	18	13072998	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996959866480769	0.926
18	13072997	T	C	18	13072998	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.423177282543473	0.42
18	13072997	T	G	18	13072998	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994505562399571	0.846
18	13072998	T	A	18	13072999	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999269726270734	0.898
18	13072998	T	C	18	13072999	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.640775796893725	0.322
18	13072998	T	G	18	13072999	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999737706460702	0.908
18	13072999	A	C	18	13073000	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.92099852957569E-5	0.042
18	13072999	A	G	18	13073000	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.40829317279054E-4	0.026
18	13072999	A	T	18	13073000	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.56093976862147E-5	0.052
18	13073000	A	C	18	13073001	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.00477772561553E-4	0.028
18	13073000	A	G	18	13073001	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998588506959461	0.952
18	13073000	A	T	18	13073001	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.28613413772951E-5	0.012
18	13073001	A	C	18	13073002	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.13313941099038E-4	0.014
18	13073001	A	G	18	13073002	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999070188009663	0.946
18	13073001	A	T	18	13073002	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.52181650079138E-4	0.01
18	13073002	T	A	18	13073003	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.958506616585796	0.838
18	13073002	T	C	18	13073003	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00586264401050026	0.138
18	13073002	T	G	18	13073003	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999909301842557	0.954
18	13073003	T	A	18	13073004	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999937094508046	0.982
18	13073003	T	C	18	13073004	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.295693157824924	0.388
18	13073003	T	G	18	13073004	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996007531852265	0.94
18	13073004	G	A	18	13073005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.46856581241239E-4	0.1
18	13073004	G	C	18	13073005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.47414938147832E-5	0.01
18	13073004	G	T	18	13073005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.00759112470951E-4	0.182
18	13073005	T	A	18	13073006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0225604046891775	0.278
18	13073005	T	C	18	13073006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.3195515035509E-5	0.026
18	13073005	T	G	18	13073006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99557743042709	0.772
18	13073006	A	C	18	13073007	y	y	splicing	CEP192(NM_032142:exon30:c.5440-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3652-2A>C;ENST00000506447:exon30:c.5440-2A>C;ENST00000513432:exon24:c.6179-2A>C;ENST00000430049:exon20:c.4015-2A>C;ENST00000511820:exon20:c.4056-2A>C;ENST00000510237:exon21:c.4240-2A>C;ENST00000589993:exon10:c.1083-2A>C)	.	.	0.999986741007567	0.934
18	13073006	A	G	18	13073007	y	y	splicing	CEP192(NM_032142:exon30:c.5440-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3652-2A>G;ENST00000506447:exon30:c.5440-2A>G;ENST00000513432:exon24:c.6179-2A>G;ENST00000430049:exon20:c.4015-2A>G;ENST00000511820:exon20:c.4056-2A>G;ENST00000510237:exon21:c.4240-2A>G;ENST00000589993:exon10:c.1083-2A>G)	.	.	0.999986741007567	0.934
18	13073006	A	T	18	13073007	y	y	splicing	CEP192(NM_032142:exon30:c.5440-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3652-2A>T;ENST00000506447:exon30:c.5440-2A>T;ENST00000513432:exon24:c.6179-2A>T;ENST00000430049:exon20:c.4015-2A>T;ENST00000511820:exon20:c.4056-2A>T;ENST00000510237:exon21:c.4240-2A>T;ENST00000589993:exon10:c.1083-2A>T)	.	.	0.999986741007567	0.934
18	13073007	G	A	18	13073008	y	y	splicing	CEP192(NM_032142:exon30:c.5440-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3652-1G>A;ENST00000506447:exon30:c.5440-1G>A;ENST00000513432:exon24:c.6179-1G>A;ENST00000430049:exon20:c.4015-1G>A;ENST00000511820:exon20:c.4056-1G>A;ENST00000510237:exon21:c.4240-1G>A;ENST00000589993:exon10:c.1083-1G>A)	.	.	0.999984967332678	0.94
18	13073007	G	C	18	13073008	y	y	splicing	CEP192(NM_032142:exon30:c.5440-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3652-1G>C;ENST00000506447:exon30:c.5440-1G>C;ENST00000513432:exon24:c.6179-1G>C;ENST00000430049:exon20:c.4015-1G>C;ENST00000511820:exon20:c.4056-1G>C;ENST00000510237:exon21:c.4240-1G>C;ENST00000589993:exon10:c.1083-1G>C)	.	.	0.999984967332678	0.94
18	13073007	G	T	18	13073008	y	y	splicing	CEP192(NM_032142:exon30:c.5440-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3652-1G>T;ENST00000506447:exon30:c.5440-1G>T;ENST00000513432:exon24:c.6179-1G>T;ENST00000430049:exon20:c.4015-1G>T;ENST00000511820:exon20:c.4056-1G>T;ENST00000510237:exon21:c.4240-1G>T;ENST00000589993:exon10:c.1083-1G>T)	.	.	0.999984967332678	0.94
18	13073008	C	A	18	13073009	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.C5440A:p.L1814I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.C4240A:p.L1414I;ENSG00000101639:ENST00000325971:exon28:c.C3652A:p.L1218I;ENSG00000101639:ENST00000506447:exon30:c.C5440A:p.L1814I;ENSG00000101639:ENST00000430049:exon20:c.C4015A:p.L1339I;	1.18231060667735E-4	0.114
18	13073008	C	G	18	13073009	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.C5440G:p.L1814V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.C4240G:p.L1414V;ENSG00000101639:ENST00000325971:exon28:c.C3652G:p.L1218V;ENSG00000101639:ENST00000506447:exon30:c.C5440G:p.L1814V;ENSG00000101639:ENST00000430049:exon20:c.C4015G:p.L1339V;	0.00153327684285968	0.41
18	13073008	C	T	18	13073009	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.C5440T:p.L1814F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.C4240T:p.L1414F;ENSG00000101639:ENST00000325971:exon28:c.C3652T:p.L1218F;ENSG00000101639:ENST00000506447:exon30:c.C5440T:p.L1814F;ENSG00000101639:ENST00000430049:exon20:c.C4015T:p.L1339F;	0.00597748697323375	0.294
18	13073009	T	A	18	13073010	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.T5441A:p.L1814H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.T4241A:p.L1414H;ENSG00000101639:ENST00000325971:exon28:c.T3653A:p.L1218H;ENSG00000101639:ENST00000506447:exon30:c.T5441A:p.L1814H;ENSG00000101639:ENST00000430049:exon20:c.T4016A:p.L1339H;	0.845470365845403	0.404
18	13073009	T	C	18	13073010	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.T5441C:p.L1814P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.T4241C:p.L1414P;ENSG00000101639:ENST00000325971:exon28:c.T3653C:p.L1218P;ENSG00000101639:ENST00000506447:exon30:c.T5441C:p.L1814P;ENSG00000101639:ENST00000430049:exon20:c.T4016C:p.L1339P;	0.768594696449404	0.358
18	13073009	T	G	18	13073010	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.T5441G:p.L1814R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.T4241G:p.L1414R;ENSG00000101639:ENST00000325971:exon28:c.T3653G:p.L1218R;ENSG00000101639:ENST00000506447:exon30:c.T5441G:p.L1814R;ENSG00000101639:ENST00000430049:exon20:c.T4016G:p.L1339R;	0.817037081424481	0.398
18	13073182	A	C	18	13073183	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.A5614C:p.T1872P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.A4414C:p.T1472P;ENSG00000101639:ENST00000325971:exon28:c.A3826C:p.T1276P;ENSG00000101639:ENST00000506447:exon30:c.A5614C:p.T1872P;ENSG00000101639:ENST00000430049:exon20:c.A4189C:p.T1397P;	0.757938038140959	0.73
18	13073182	A	G	18	13073183	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.A5614G:p.T1872A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.A4414G:p.T1472A;ENSG00000101639:ENST00000325971:exon28:c.A3826G:p.T1276A;ENSG00000101639:ENST00000506447:exon30:c.A5614G:p.T1872A;ENSG00000101639:ENST00000430049:exon20:c.A4189G:p.T1397A;	0.823824982086078	0.432
18	13073182	A	T	18	13073183	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.A5614T:p.T1872S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.A4414T:p.T1472S;ENSG00000101639:ENST00000325971:exon28:c.A3826T:p.T1276S;ENSG00000101639:ENST00000506447:exon30:c.A5614T:p.T1872S;ENSG00000101639:ENST00000430049:exon20:c.A4189T:p.T1397S;	0.99620694847863	0.656
18	13073183	C	A	18	13073184	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.C5615A:p.T1872K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.C4415A:p.T1472K;ENSG00000101639:ENST00000325971:exon28:c.C3827A:p.T1276K;ENSG00000101639:ENST00000506447:exon30:c.C5615A:p.T1872K;ENSG00000101639:ENST00000430049:exon20:c.C4190A:p.T1397K;	0.0492107423756394	0.37
18	13073183	C	G	18	13073184	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.C5615G:p.T1872R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.C4415G:p.T1472R;ENSG00000101639:ENST00000325971:exon28:c.C3827G:p.T1276R;ENSG00000101639:ENST00000506447:exon30:c.C5615G:p.T1872R;ENSG00000101639:ENST00000430049:exon20:c.C4190G:p.T1397R;	0.286696081272905	0.368
18	13073183	C	T	18	13073184	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon30:c.C5615T:p.T1872I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.C4415T:p.T1472I;ENSG00000101639:ENST00000325971:exon28:c.C3827T:p.T1276I;ENSG00000101639:ENST00000506447:exon30:c.C5615T:p.T1872I;ENSG00000101639:ENST00000430049:exon20:c.C4190T:p.T1397I;	0.211841639599615	0.334
18	13073184	A	C	18	13073185	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon30:c.A5616C:p.T1872T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.A4416C:p.T1472T;ENSG00000101639:ENST00000325971:exon28:c.A3828C:p.T1276T;ENSG00000101639:ENST00000506447:exon30:c.A5616C:p.T1872T;ENSG00000101639:ENST00000430049:exon20:c.A4191C:p.T1397T;	6.95773785511404E-5	0.094
18	13073184	A	G	18	13073185	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon30:c.A5616G:p.T1872T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.A4416G:p.T1472T;ENSG00000101639:ENST00000325971:exon28:c.A3828G:p.T1276T;ENSG00000101639:ENST00000506447:exon30:c.A5616G:p.T1872T;ENSG00000101639:ENST00000430049:exon20:c.A4191G:p.T1397T;	1.29325955225681E-4	0.048
18	13073184	A	T	18	13073185	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon30:c.A5616T:p.T1872T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon21:c.A4416T:p.T1472T;ENSG00000101639:ENST00000325971:exon28:c.A3828T:p.T1276T;ENSG00000101639:ENST00000506447:exon30:c.A5616T:p.T1872T;ENSG00000101639:ENST00000430049:exon20:c.A4191T:p.T1397T;	0.00331909594926457	0.174
18	13073185	G	A	18	13073186	y	y	splicing	CEP192(NM_032142:exon30:c.5616+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3828+1G>A;ENST00000506447:exon30:c.5616+1G>A;ENST00000513432:exon24:c.6355+1G>A;ENST00000430049:exon20:c.4191+1G>A;ENST00000511820:exon20:c.4232+1G>A;ENST00000510237:exon21:c.4416+1G>A;ENST00000589993:exon10:c.1259+1G>A)	.	.	0.999986675681007	0.922
18	13073185	G	C	18	13073186	y	y	splicing	CEP192(NM_032142:exon30:c.5616+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3828+1G>C;ENST00000506447:exon30:c.5616+1G>C;ENST00000513432:exon24:c.6355+1G>C;ENST00000430049:exon20:c.4191+1G>C;ENST00000511820:exon20:c.4232+1G>C;ENST00000510237:exon21:c.4416+1G>C;ENST00000589993:exon10:c.1259+1G>C)	.	.	0.999986675681007	0.922
18	13073185	G	T	18	13073186	y	y	splicing	CEP192(NM_032142:exon30:c.5616+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3828+1G>T;ENST00000506447:exon30:c.5616+1G>T;ENST00000513432:exon24:c.6355+1G>T;ENST00000430049:exon20:c.4191+1G>T;ENST00000511820:exon20:c.4232+1G>T;ENST00000510237:exon21:c.4416+1G>T;ENST00000589993:exon10:c.1259+1G>T)	.	.	0.999986675681007	0.922
18	13073186	T	A	18	13073187	y	y	splicing	CEP192(NM_032142:exon30:c.5616+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3828+2T>A;ENST00000506447:exon30:c.5616+2T>A;ENST00000513432:exon24:c.6355+2T>A;ENST00000430049:exon20:c.4191+2T>A;ENST00000511820:exon20:c.4232+2T>A;ENST00000510237:exon21:c.4416+2T>A;ENST00000589993:exon10:c.1259+2T>A)	.	.	0.999988247793601	0.916
18	13073186	T	C	18	13073187	y	y	splicing	CEP192(NM_032142:exon30:c.5616+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3828+2T>C;ENST00000506447:exon30:c.5616+2T>C;ENST00000513432:exon24:c.6355+2T>C;ENST00000430049:exon20:c.4191+2T>C;ENST00000511820:exon20:c.4232+2T>C;ENST00000510237:exon21:c.4416+2T>C;ENST00000589993:exon10:c.1259+2T>C)	.	.	0.999897703382408	0.872
18	13073186	T	G	18	13073187	y	y	splicing	CEP192(NM_032142:exon30:c.5616+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon28:c.3828+2T>G;ENST00000506447:exon30:c.5616+2T>G;ENST00000513432:exon24:c.6355+2T>G;ENST00000430049:exon20:c.4191+2T>G;ENST00000511820:exon20:c.4232+2T>G;ENST00000510237:exon21:c.4416+2T>G;ENST00000589993:exon10:c.1259+2T>G)	.	.	0.999988247793601	0.916
18	13073187	A	C	18	13073188	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999391906882677	0.982
18	13073187	A	G	18	13073188	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994520249588644	0.77
18	13073187	A	T	18	13073188	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99967351107936	0.984
18	13073188	A	C	18	13073189	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996129542867017	0.85
18	13073188	A	G	18	13073189	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998909798619916	0.916
18	13073188	A	T	18	13073189	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.995338444996616	0.854
18	13073189	G	A	18	13073190	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999950291575004	0.988
18	13073189	G	C	18	13073190	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999964667335701	0.97
18	13073189	G	T	18	13073190	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999950291575004	0.978
18	13073190	A	C	18	13073191	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0196911270447426	0.14
18	13073190	A	G	18	13073191	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00100318018982462	0.05
18	13073190	A	T	18	13073191	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.14785328727232E-4	0.032
18	13073191	T	A	18	13073192	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.33827925487861E-4	0.02
18	13073191	T	C	18	13073192	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.43057348093204E-4	0.002
18	13073191	T	G	18	13073192	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.35982085345677E-4	0.002
18	13073192	C	A	18	13073193	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.05713383547916E-4	0.018
18	13073192	C	G	18	13073193	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.93820050740968E-4	0.006
18	13073192	C	T	18	13073193	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.74157445960859E-4	0.024
18	13087004	T	A	18	13087005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.150890849509873	0.47
18	13087004	T	C	18	13087005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00217405565590037	0.044
18	13087004	T	G	18	13087005	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99977970838453	0.982
18	13087005	A	C	18	13087006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.12249740187184E-5	0.0
18	13087005	A	G	18	13087006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.51962909111607E-5	0.0
18	13087005	A	T	18	13087006	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.71382957211012E-5	0.062
18	13087006	T	A	18	13087007	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.476043729422631	0.506
18	13087006	T	C	18	13087007	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0159069628421469	0.132
18	13087006	T	G	18	13087007	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999970323167566	0.972
18	13087007	C	A	18	13087008	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.20498679916107E-4	0.018
18	13087007	C	G	18	13087008	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.81372393368338E-4	0.032
18	13087007	C	T	18	13087008	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.65384948799309E-5	0.004
18	13087008	T	A	18	13087009	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00198620235930971	0.09
18	13087008	T	C	18	13087009	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.06009885275836E-5	0.0
18	13087008	T	G	18	13087009	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00176760678970951	0.142
18	13087009	T	A	18	13087010	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00392342749457065	0.04
18	13087009	T	C	18	13087010	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.96350990494215E-5	0.004
18	13087009	T	G	18	13087010	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00383009459178506	0.062
18	13087010	T	A	18	13087011	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.817816668446592	0.454
18	13087010	T	C	18	13087011	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00181768343711827	0.08
18	13087010	T	G	18	13087011	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.817816668446592	0.448
18	13087011	T	A	18	13087012	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.988793794532808	0.716
18	13087011	T	C	18	13087012	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.118437197385372	0.224
18	13087011	T	G	18	13087012	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.987666641363139	0.704
18	13087012	T	A	18	13087013	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.33530099471348E-4	0.024
18	13087012	T	C	18	13087013	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.74102113756593E-4	0.016
18	13087012	T	G	18	13087013	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.85184453820564E-4	0.018
18	13087013	T	A	18	13087014	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00246352982121171	0.222
18	13087013	T	C	18	13087014	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.47333040046727E-5	0.004
18	13087013	T	G	18	13087014	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.899182051795942	0.67
18	13087014	A	C	18	13087015	y	y	splicing	CEP192(NM_032142:exon31:c.5617-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.3829-2A>C;ENST00000506447:exon31:c.5617-2A>C;ENST00000513432:exon25:c.6356-2A>C;ENST00000430049:exon21:c.4192-2A>C;ENST00000511820:exon21:c.4233-2A>C;ENST00000510237:exon22:c.4417-2A>C;ENST00000589993:exon11:c.1260-2A>C)	.	.	0.999988247793601	0.928
18	13087014	A	G	18	13087015	y	y	splicing	CEP192(NM_032142:exon31:c.5617-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.3829-2A>G;ENST00000506447:exon31:c.5617-2A>G;ENST00000513432:exon25:c.6356-2A>G;ENST00000430049:exon21:c.4192-2A>G;ENST00000511820:exon21:c.4233-2A>G;ENST00000510237:exon22:c.4417-2A>G;ENST00000589993:exon11:c.1260-2A>G)	.	.	0.999988247793601	0.928
18	13087014	A	T	18	13087015	y	y	splicing	CEP192(NM_032142:exon31:c.5617-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.3829-2A>T;ENST00000506447:exon31:c.5617-2A>T;ENST00000513432:exon25:c.6356-2A>T;ENST00000430049:exon21:c.4192-2A>T;ENST00000511820:exon21:c.4233-2A>T;ENST00000510237:exon22:c.4417-2A>T;ENST00000589993:exon11:c.1260-2A>T)	.	.	0.999988247793601	0.928
18	13087015	G	A	18	13087016	y	y	splicing	CEP192(NM_032142:exon31:c.5617-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.3829-1G>A;ENST00000506447:exon31:c.5617-1G>A;ENST00000513432:exon25:c.6356-1G>A;ENST00000430049:exon21:c.4192-1G>A;ENST00000511820:exon21:c.4233-1G>A;ENST00000510237:exon22:c.4417-1G>A;ENST00000589993:exon11:c.1260-1G>A)	.	.	0.999985532734767	0.936
18	13087015	G	C	18	13087016	y	y	splicing	CEP192(NM_032142:exon31:c.5617-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.3829-1G>C;ENST00000506447:exon31:c.5617-1G>C;ENST00000513432:exon25:c.6356-1G>C;ENST00000430049:exon21:c.4192-1G>C;ENST00000511820:exon21:c.4233-1G>C;ENST00000510237:exon22:c.4417-1G>C;ENST00000589993:exon11:c.1260-1G>C)	.	.	0.999985532734767	0.936
18	13087015	G	T	18	13087016	y	y	splicing	CEP192(NM_032142:exon31:c.5617-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.3829-1G>T;ENST00000506447:exon31:c.5617-1G>T;ENST00000513432:exon25:c.6356-1G>T;ENST00000430049:exon21:c.4192-1G>T;ENST00000511820:exon21:c.4233-1G>T;ENST00000510237:exon22:c.4417-1G>T;ENST00000589993:exon11:c.1260-1G>T)	.	.	0.999985532734767	0.936
18	13087016	A	C	18	13087017	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.A5617C:p.I1873L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4417C:p.I1473L;ENSG00000101639:ENST00000325971:exon29:c.A3829C:p.I1277L;ENSG00000101639:ENST00000506447:exon31:c.A5617C:p.I1873L;ENSG00000101639:ENST00000430049:exon21:c.A4192C:p.I1398L;	0.742291740415304	0.594
18	13087016	A	G	18	13087017	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.A5617G:p.I1873V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4417G:p.I1473V;ENSG00000101639:ENST00000325971:exon29:c.A3829G:p.I1277V;ENSG00000101639:ENST00000506447:exon31:c.A5617G:p.I1873V;ENSG00000101639:ENST00000430049:exon21:c.A4192G:p.I1398V;	0.624660450486072	0.66
18	13087016	A	T	18	13087017	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.A5617T:p.I1873L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4417T:p.I1473L;ENSG00000101639:ENST00000325971:exon29:c.A3829T:p.I1277L;ENSG00000101639:ENST00000506447:exon31:c.A5617T:p.I1873L;ENSG00000101639:ENST00000430049:exon21:c.A4192T:p.I1398L;	0.562909640923816	0.536
18	13087017	T	A	18	13087018	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.T5618A:p.I1873K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.T4418A:p.I1473K;ENSG00000101639:ENST00000325971:exon29:c.T3830A:p.I1277K;ENSG00000101639:ENST00000506447:exon31:c.T5618A:p.I1873K;ENSG00000101639:ENST00000430049:exon21:c.T4193A:p.I1398K;	0.433630397015045	0.452
18	13087017	T	C	18	13087018	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.T5618C:p.I1873T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.T4418C:p.I1473T;ENSG00000101639:ENST00000325971:exon29:c.T3830C:p.I1277T;ENSG00000101639:ENST00000506447:exon31:c.T5618C:p.I1873T;ENSG00000101639:ENST00000430049:exon21:c.T4193C:p.I1398T;	0.525304978555193	0.572
18	13087017	T	G	18	13087018	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.T5618G:p.I1873R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.T4418G:p.I1473R;ENSG00000101639:ENST00000325971:exon29:c.T3830G:p.I1277R;ENSG00000101639:ENST00000506447:exon31:c.T5618G:p.I1873R;ENSG00000101639:ENST00000430049:exon21:c.T4193G:p.I1398R;	0.475365492268327	0.54
18	13087274	G	A	18	13087275	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.G5875A:p.E1959K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.G4675A:p.E1559K;ENSG00000101639:ENST00000325971:exon29:c.G4087A:p.E1363K;ENSG00000101639:ENST00000508150:exon1:c.G127A:p.E43K;ENSG00000101639:ENST00000506447:exon31:c.G5875A:p.E1959K;ENSG00000101639:ENST00000430049:exon21:c.G4450A:p.E1484K;	1.24938967583539E-4	0.036
18	13087274	G	C	18	13087275	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.G5875C:p.E1959Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.G4675C:p.E1559Q;ENSG00000101639:ENST00000325971:exon29:c.G4087C:p.E1363Q;ENSG00000101639:ENST00000508150:exon1:c.G127C:p.E43Q;ENSG00000101639:ENST00000506447:exon31:c.G5875C:p.E1959Q;ENSG00000101639:ENST00000430049:exon21:c.G4450C:p.E1484Q;	1.36532937280701E-4	0.142
18	13087274	G	T	18	13087275	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon31:c.G5875T:p.E1959X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon22:c.G4675T:p.E1559X;ENSG00000101639:ENST00000325971:exon29:c.G4087T:p.E1363X;ENSG00000101639:ENST00000508150:exon1:c.G127T:p.E43X;ENSG00000101639:ENST00000506447:exon31:c.G5875T:p.E1959X;ENSG00000101639:ENST00000430049:exon21:c.G4450T:p.E1484X;	0.00217631455664414	0.422
18	13087275	A	C	18	13087276	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.A5876C:p.E1959A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4676C:p.E1559A;ENSG00000101639:ENST00000325971:exon29:c.A4088C:p.E1363A;ENSG00000101639:ENST00000508150:exon1:c.A128C:p.E43A;ENSG00000101639:ENST00000506447:exon31:c.A5876C:p.E1959A;ENSG00000101639:ENST00000430049:exon21:c.A4451C:p.E1484A;	0.995256807202987	0.952
18	13087275	A	G	18	13087276	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.A5876G:p.E1959G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4676G:p.E1559G;ENSG00000101639:ENST00000325971:exon29:c.A4088G:p.E1363G;ENSG00000101639:ENST00000508150:exon1:c.A128G:p.E43G;ENSG00000101639:ENST00000506447:exon31:c.A5876G:p.E1959G;ENSG00000101639:ENST00000430049:exon21:c.A4451G:p.E1484G;	0.99259982358797	0.834
18	13087275	A	T	18	13087276	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.A5876T:p.E1959V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4676T:p.E1559V;ENSG00000101639:ENST00000325971:exon29:c.A4088T:p.E1363V;ENSG00000101639:ENST00000508150:exon1:c.A128T:p.E43V;ENSG00000101639:ENST00000506447:exon31:c.A5876T:p.E1959V;ENSG00000101639:ENST00000430049:exon21:c.A4451T:p.E1484V;	0.995860495908296	0.924
18	13087276	A	C	18	13087277	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.A5877C:p.E1959D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4677C:p.E1559D;ENSG00000101639:ENST00000325971:exon29:c.A4089C:p.E1363D;ENSG00000101639:ENST00000508150:exon1:c.A129C:p.E43D;ENSG00000101639:ENST00000506447:exon31:c.A5877C:p.E1959D;ENSG00000101639:ENST00000430049:exon21:c.A4452C:p.E1484D;	0.00565365974808838	0.124
18	13087276	A	G	18	13087277	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon31:c.A5877G:p.E1959E;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4677G:p.E1559E;ENSG00000101639:ENST00000325971:exon29:c.A4089G:p.E1363E;ENSG00000101639:ENST00000508150:exon1:c.A129G:p.E43E;ENSG00000101639:ENST00000506447:exon31:c.A5877G:p.E1959E;ENSG00000101639:ENST00000430049:exon21:c.A4452G:p.E1484E;	1.64241117268467E-4	0.036
18	13087276	A	T	18	13087277	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon31:c.A5877T:p.E1959D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon22:c.A4677T:p.E1559D;ENSG00000101639:ENST00000325971:exon29:c.A4089T:p.E1363D;ENSG00000101639:ENST00000508150:exon1:c.A129T:p.E43D;ENSG00000101639:ENST00000506447:exon31:c.A5877T:p.E1959D;ENSG00000101639:ENST00000430049:exon21:c.A4452T:p.E1484D;	0.0424702370741531	0.196
18	13087277	G	A	18	13087278	y	y	splicing	CEP192(NM_032142:exon31:c.5877+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.4089+1G>A;ENST00000506447:exon31:c.5877+1G>A;ENST00000513432:exon25:c.6616+1G>A;ENST00000430049:exon21:c.4452+1G>A;ENST00000511820:exon21:c.4493+1G>A;ENST00000510237:exon22:c.4677+1G>A;ENST00000589993:exon11:c.1520+1G>A;ENST00000508150:exon1:c.129+1G>A)	.	.	0.999985532734767	0.934
18	13087277	G	C	18	13087278	y	y	splicing	CEP192(NM_032142:exon31:c.5877+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.4089+1G>C;ENST00000506447:exon31:c.5877+1G>C;ENST00000513432:exon25:c.6616+1G>C;ENST00000430049:exon21:c.4452+1G>C;ENST00000511820:exon21:c.4493+1G>C;ENST00000510237:exon22:c.4677+1G>C;ENST00000589993:exon11:c.1520+1G>C;ENST00000508150:exon1:c.129+1G>C)	.	.	0.999985532734767	0.934
18	13087277	G	T	18	13087278	y	y	splicing	CEP192(NM_032142:exon31:c.5877+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.4089+1G>T;ENST00000506447:exon31:c.5877+1G>T;ENST00000513432:exon25:c.6616+1G>T;ENST00000430049:exon21:c.4452+1G>T;ENST00000511820:exon21:c.4493+1G>T;ENST00000510237:exon22:c.4677+1G>T;ENST00000589993:exon11:c.1520+1G>T;ENST00000508150:exon1:c.129+1G>T)	.	.	0.999985532734767	0.934
18	13087278	T	A	18	13087279	y	y	splicing	CEP192(NM_032142:exon31:c.5877+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.4089+2T>A;ENST00000506447:exon31:c.5877+2T>A;ENST00000513432:exon25:c.6616+2T>A;ENST00000430049:exon21:c.4452+2T>A;ENST00000511820:exon21:c.4493+2T>A;ENST00000510237:exon22:c.4677+2T>A;ENST00000589993:exon11:c.1520+2T>A;ENST00000508150:exon1:c.129+2T>A)	.	.	0.999860244802013	0.916
18	13087278	T	C	18	13087279	y	y	splicing	CEP192(NM_032142:exon31:c.5877+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.4089+2T>C;ENST00000506447:exon31:c.5877+2T>C;ENST00000513432:exon25:c.6616+2T>C;ENST00000430049:exon21:c.4452+2T>C;ENST00000511820:exon21:c.4493+2T>C;ENST00000510237:exon22:c.4677+2T>C;ENST00000589993:exon11:c.1520+2T>C;ENST00000508150:exon1:c.129+2T>C)	.	.	0.883394340666723	0.568
18	13087278	T	G	18	13087279	y	y	splicing	CEP192(NM_032142:exon31:c.5877+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon29:c.4089+2T>G;ENST00000506447:exon31:c.5877+2T>G;ENST00000513432:exon25:c.6616+2T>G;ENST00000430049:exon21:c.4452+2T>G;ENST00000511820:exon21:c.4493+2T>G;ENST00000510237:exon22:c.4677+2T>G;ENST00000589993:exon11:c.1520+2T>G;ENST00000508150:exon1:c.129+2T>G)	.	.	0.999860244802013	0.9
18	13087279	A	C	18	13087280	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999523328753439	0.802
18	13087279	A	G	18	13087280	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0167939732118052	0.244
18	13087279	A	T	18	13087280	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.990210147625461	0.72
18	13087280	A	C	18	13087281	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.269909245807737	0.434
18	13087280	A	G	18	13087281	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.445948662005357	0.522
18	13087280	A	T	18	13087281	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.623988593921088	0.494
18	13087281	G	A	18	13087282	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998821326521563	0.876
18	13087281	G	C	18	13087282	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998999243524318	0.872
18	13087281	G	T	18	13087282	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999723745970708	0.898
18	13087282	T	A	18	13087283	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.576455532433681	0.556
18	13087282	T	C	18	13087283	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.447186134663674	0.552
18	13087282	T	G	18	13087283	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.213035526848158	0.546
18	13087283	A	C	18	13087284	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.93340606550261E-6	0.0
18	13087283	A	G	18	13087284	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.93340606550261E-6	0.0
18	13087283	A	T	18	13087284	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.93340606550261E-6	0.0
18	13087284	C	A	18	13087285	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.65606732392624E-5	0.0
18	13087284	C	G	18	13087285	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.65606732392624E-5	0.0
18	13087284	C	T	18	13087285	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.45785738172544E-5	0.0
18	13087518	T	A	18	13087519	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.982818703028634	0.658
18	13087518	T	C	18	13087519	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00430426416785709	0.092
18	13087518	T	G	18	13087519	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.907702386363252	0.556
18	13087519	C	A	18	13087520	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0203088018516908	0.27
18	13087519	C	G	18	13087520	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00164462087853251	0.092
18	13087519	C	T	18	13087520	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.98136708797463E-4	0.062
18	13087520	T	A	18	13087521	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.910503988854664	0.63
18	13087520	T	C	18	13087521	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.51046205394106E-4	0.136
18	13087520	T	G	18	13087521	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.742761440177818	0.552
18	13087521	T	A	18	13087522	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999978614176758	0.972
18	13087521	T	C	18	13087522	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0192815709774799	0.106
18	13087521	T	G	18	13087522	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.993470170543879	0.834
18	13087522	G	A	18	13087523	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999508833298881	0.946
18	13087522	G	C	18	13087523	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.5848210748623E-4	0.006
18	13087522	G	T	18	13087523	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.48235254613728E-4	0.002
18	13087523	G	A	18	13087524	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.7106761267142E-4	0.016
18	13087523	G	C	18	13087524	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.58441581125568E-4	0.01
18	13087523	G	T	18	13087524	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.58441581125568E-4	0.014
18	13087524	C	A	18	13087525	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00485463471484005	0.27
18	13087524	C	G	18	13087525	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0120145920079963	0.262
18	13087524	C	T	18	13087525	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.80533693581267E-5	0.002
18	13087525	A	C	18	13087526	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.4437471435641E-5	0.002
18	13087525	A	G	18	13087526	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.58078165266315E-5	0.0
18	13087525	A	T	18	13087526	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.01488868567664E-5	0.018
18	13087526	T	A	18	13087527	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00209079641056241	0.006
18	13087526	T	C	18	13087527	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.35172392437217E-4	0.0
18	13087526	T	G	18	13087527	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.844813677963002	0.504
18	13087527	C	A	18	13087528	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997971021031606	0.906
18	13087527	C	G	18	13087528	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99989800862476	0.964
18	13087527	C	T	18	13087528	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0041631913641866	0.036
18	13087528	A	C	18	13087529	y	y	splicing	CEP192(NM_032142:exon32:c.5878-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4090-2A>C;ENST00000506447:exon32:c.5878-2A>C;ENST00000513432:exon26:c.6617-2A>C;ENST00000430049:exon22:c.4453-2A>C;ENST00000511820:exon22:c.4494-2A>C;ENST00000510237:exon23:c.4678-2A>C;ENST00000589993:exon12:c.1521-2A>C)	.	.	0.999976497614174	0.9
18	13087528	A	G	18	13087529	y	y	splicing	CEP192(NM_032142:exon32:c.5878-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4090-2A>G;ENST00000506447:exon32:c.5878-2A>G;ENST00000513432:exon26:c.6617-2A>G;ENST00000430049:exon22:c.4453-2A>G;ENST00000511820:exon22:c.4494-2A>G;ENST00000510237:exon23:c.4678-2A>G;ENST00000589993:exon12:c.1521-2A>G)	.	.	0.999976497614174	0.9
18	13087528	A	T	18	13087529	y	y	splicing	CEP192(NM_032142:exon32:c.5878-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4090-2A>T;ENST00000506447:exon32:c.5878-2A>T;ENST00000513432:exon26:c.6617-2A>T;ENST00000430049:exon22:c.4453-2A>T;ENST00000511820:exon22:c.4494-2A>T;ENST00000510237:exon23:c.4678-2A>T;ENST00000589993:exon12:c.1521-2A>T)	.	.	0.999976497614174	0.9
18	13087529	G	A	18	13087530	y	y	splicing	CEP192(NM_032142:exon32:c.5878-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4090-1G>A;ENST00000506447:exon32:c.5878-1G>A;ENST00000513432:exon26:c.6617-1G>A;ENST00000430049:exon22:c.4453-1G>A;ENST00000511820:exon22:c.4494-1G>A;ENST00000510237:exon23:c.4678-1G>A;ENST00000589993:exon12:c.1521-1G>A)	.	.	0.999986675681007	0.946
18	13087529	G	C	18	13087530	y	y	splicing	CEP192(NM_032142:exon32:c.5878-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4090-1G>C;ENST00000506447:exon32:c.5878-1G>C;ENST00000513432:exon26:c.6617-1G>C;ENST00000430049:exon22:c.4453-1G>C;ENST00000511820:exon22:c.4494-1G>C;ENST00000510237:exon23:c.4678-1G>C;ENST00000589993:exon12:c.1521-1G>C)	.	.	0.999986675681007	0.946
18	13087529	G	T	18	13087530	y	y	splicing	CEP192(NM_032142:exon32:c.5878-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4090-1G>T;ENST00000506447:exon32:c.5878-1G>T;ENST00000513432:exon26:c.6617-1G>T;ENST00000430049:exon22:c.4453-1G>T;ENST00000511820:exon22:c.4494-1G>T;ENST00000510237:exon23:c.4678-1G>T;ENST00000589993:exon12:c.1521-1G>T)	.	.	0.999986675681007	0.946
18	13087530	A	C	18	13087531	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.A5878C:p.N1960H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4678C:p.N1560H;ENSG00000101639:ENST00000325971:exon30:c.A4090C:p.N1364H;ENSG00000101639:ENST00000506447:exon32:c.A5878C:p.N1960H;ENSG00000101639:ENST00000430049:exon22:c.A4453C:p.N1485H;	2.85743923004667E-4	0.064
18	13087530	A	G	18	13087531	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.A5878G:p.N1960D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4678G:p.N1560D;ENSG00000101639:ENST00000325971:exon30:c.A4090G:p.N1364D;ENSG00000101639:ENST00000506447:exon32:c.A5878G:p.N1960D;ENSG00000101639:ENST00000430049:exon22:c.A4453G:p.N1485D;	2.62147862587764E-5	0.004
18	13087530	A	T	18	13087531	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.A5878T:p.N1960Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4678T:p.N1560Y;ENSG00000101639:ENST00000325971:exon30:c.A4090T:p.N1364Y;ENSG00000101639:ENST00000506447:exon32:c.A5878T:p.N1960Y;ENSG00000101639:ENST00000430049:exon22:c.A4453T:p.N1485Y;	2.75458327876283E-4	0.06
18	13087531	A	C	18	13087532	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.A5879C:p.N1960T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4679C:p.N1560T;ENSG00000101639:ENST00000325971:exon30:c.A4091C:p.N1364T;ENSG00000101639:ENST00000506447:exon32:c.A5879C:p.N1960T;ENSG00000101639:ENST00000430049:exon22:c.A4454C:p.N1485T;	6.52316728488149E-4	0.024
18	13087531	A	G	18	13087532	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.A5879G:p.N1960S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4679G:p.N1560S;ENSG00000101639:ENST00000325971:exon30:c.A4091G:p.N1364S;ENSG00000101639:ENST00000506447:exon32:c.A5879G:p.N1960S;ENSG00000101639:ENST00000430049:exon22:c.A4454G:p.N1485S;	8.2352681537593E-4	0.012
18	13087531	A	T	18	13087532	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.A5879T:p.N1960I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4679T:p.N1560I;ENSG00000101639:ENST00000325971:exon30:c.A4091T:p.N1364I;ENSG00000101639:ENST00000506447:exon32:c.A5879T:p.N1960I;ENSG00000101639:ENST00000430049:exon22:c.A4454T:p.N1485I;	7.0817684894746E-4	0.002
18	13087643	C	A	18	13087644	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon32:c.C5991A:p.R1997R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.C4791A:p.R1597R;ENSG00000101639:ENST00000325971:exon30:c.C4203A:p.R1401R;ENSG00000101639:ENST00000506447:exon32:c.C5991A:p.R1997R;ENSG00000101639:ENST00000430049:exon22:c.C4566A:p.R1522R;	2.94016665194354E-4	0.018
18	13087643	C	G	18	13087644	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon32:c.C5991G:p.R1997R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.C4791G:p.R1597R;ENSG00000101639:ENST00000325971:exon30:c.C4203G:p.R1401R;ENSG00000101639:ENST00000506447:exon32:c.C5991G:p.R1997R;ENSG00000101639:ENST00000430049:exon22:c.C4566G:p.R1522R;	0.00905594266031617	0.16
18	13087643	C	T	18	13087644	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon32:c.C5991T:p.R1997R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.C4791T:p.R1597R;ENSG00000101639:ENST00000325971:exon30:c.C4203T:p.R1401R;ENSG00000101639:ENST00000506447:exon32:c.C5991T:p.R1997R;ENSG00000101639:ENST00000430049:exon22:c.C4566T:p.R1522R;	0.792550045133427	0.62
18	13087644	A	C	18	13087645	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon32:c.A5992C:p.R1998R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4792C:p.R1598R;ENSG00000101639:ENST00000325971:exon30:c.A4204C:p.R1402R;ENSG00000101639:ENST00000506447:exon32:c.A5992C:p.R1998R;ENSG00000101639:ENST00000430049:exon22:c.A4567C:p.R1523R;	0.99844415037655	0.958
18	13087644	A	G	18	13087645	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.A5992G:p.R1998G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4792G:p.R1598G;ENSG00000101639:ENST00000325971:exon30:c.A4204G:p.R1402G;ENSG00000101639:ENST00000506447:exon32:c.A5992G:p.R1998G;ENSG00000101639:ENST00000430049:exon22:c.A4567G:p.R1523G;	0.999950286584168	0.99
18	13087644	A	T	18	13087645	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.A5992T:p.R1998W;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.A4792T:p.R1598W;ENSG00000101639:ENST00000325971:exon30:c.A4204T:p.R1402W;ENSG00000101639:ENST00000506447:exon32:c.A5992T:p.R1998W;ENSG00000101639:ENST00000430049:exon22:c.A4567T:p.R1523W;	0.999956961007613	0.986
18	13087645	G	A	18	13087646	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.G5993A:p.R1998K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.G4793A:p.R1598K;ENSG00000101639:ENST00000325971:exon30:c.G4205A:p.R1402K;ENSG00000101639:ENST00000506447:exon32:c.G5993A:p.R1998K;ENSG00000101639:ENST00000430049:exon22:c.G4568A:p.R1523K;	0.999997534638805	1.0
18	13087645	G	C	18	13087646	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.G5993C:p.R1998T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.G4793C:p.R1598T;ENSG00000101639:ENST00000325971:exon30:c.G4205C:p.R1402T;ENSG00000101639:ENST00000506447:exon32:c.G5993C:p.R1998T;ENSG00000101639:ENST00000430049:exon22:c.G4568C:p.R1523T;	0.999998091731433	1.0
18	13087645	G	T	18	13087646	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon32:c.G5993T:p.R1998M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon23:c.G4793T:p.R1598M;ENSG00000101639:ENST00000325971:exon30:c.G4205T:p.R1402M;ENSG00000101639:ENST00000506447:exon32:c.G5993T:p.R1998M;ENSG00000101639:ENST00000430049:exon22:c.G4568T:p.R1523M;	0.99999139671287	0.998
18	13087646	G	A	18	13087647	y	y	splicing	CEP192(NM_032142:exon32:c.5993+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4205+1G>A;ENST00000506447:exon32:c.5993+1G>A;ENST00000513432:exon26:c.6732+1G>A;ENST00000430049:exon22:c.4568+1G>A;ENST00000511820:exon22:c.4609+1G>A;ENST00000510237:exon23:c.4793+1G>A;ENST00000589993:exon12:c.1636+1G>A)	.	.	0.999986675681007	0.92
18	13087646	G	C	18	13087647	y	y	splicing	CEP192(NM_032142:exon32:c.5993+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4205+1G>C;ENST00000506447:exon32:c.5993+1G>C;ENST00000513432:exon26:c.6732+1G>C;ENST00000430049:exon22:c.4568+1G>C;ENST00000511820:exon22:c.4609+1G>C;ENST00000510237:exon23:c.4793+1G>C;ENST00000589993:exon12:c.1636+1G>C)	.	.	0.999986675681007	0.918
18	13087646	G	T	18	13087647	y	y	splicing	CEP192(NM_032142:exon32:c.5993+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4205+1G>T;ENST00000506447:exon32:c.5993+1G>T;ENST00000513432:exon26:c.6732+1G>T;ENST00000430049:exon22:c.4568+1G>T;ENST00000511820:exon22:c.4609+1G>T;ENST00000510237:exon23:c.4793+1G>T;ENST00000589993:exon12:c.1636+1G>T)	.	.	0.999986675681007	0.92
18	13087647	T	A	18	13087648	y	y	splicing	CEP192(NM_032142:exon32:c.5993+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4205+2T>A;ENST00000506447:exon32:c.5993+2T>A;ENST00000513432:exon26:c.6732+2T>A;ENST00000430049:exon22:c.4568+2T>A;ENST00000511820:exon22:c.4609+2T>A;ENST00000510237:exon23:c.4793+2T>A;ENST00000589993:exon12:c.1636+2T>A)	.	.	0.999981808176352	0.908
18	13087647	T	C	18	13087648	y	y	splicing	CEP192(NM_032142:exon32:c.5993+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4205+2T>C;ENST00000506447:exon32:c.5993+2T>C;ENST00000513432:exon26:c.6732+2T>C;ENST00000430049:exon22:c.4568+2T>C;ENST00000511820:exon22:c.4609+2T>C;ENST00000510237:exon23:c.4793+2T>C;ENST00000589993:exon12:c.1636+2T>C)	.	.	0.983076175702873	0.576
18	13087647	T	G	18	13087648	y	y	splicing	CEP192(NM_032142:exon32:c.5993+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon30:c.4205+2T>G;ENST00000506447:exon32:c.5993+2T>G;ENST00000513432:exon26:c.6732+2T>G;ENST00000430049:exon22:c.4568+2T>G;ENST00000511820:exon22:c.4609+2T>G;ENST00000510237:exon23:c.4793+2T>G;ENST00000589993:exon12:c.1636+2T>G)	.	.	0.999981808176352	0.908
18	13087648	A	C	18	13087649	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999860122519245	0.982
18	13087648	A	G	18	13087649	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.977364400779539	0.85
18	13087648	A	T	18	13087649	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998302503953313	0.88
18	13087649	G	A	18	13087650	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.19368385940118E-5	0.006
18	13087649	G	C	18	13087650	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.67698486409902E-5	0.008
18	13087649	G	T	18	13087650	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.67346292941578E-5	0.01
18	13087650	A	C	18	13087651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0029413314725252	0.076
18	13087650	A	G	18	13087651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.27415019387649E-4	0.092
18	13087650	A	T	18	13087651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00381812802382318	0.192
18	13087651	T	A	18	13087652	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00684532647748515	0.176
18	13087651	T	C	18	13087652	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0286281948544087	0.272
18	13087651	T	G	18	13087652	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00270047345270012	0.266
18	13087652	T	A	18	13087653	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.96323034491673E-5	0.0
18	13087652	T	C	18	13087653	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.96323034491673E-5	0.0
18	13087652	T	G	18	13087653	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.15125035961338E-5	0.0
18	13087653	A	C	18	13087654	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.03510434119952E-5	0.0
18	13087653	A	G	18	13087654	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.40621715870379E-4	0.012
18	13087653	A	T	18	13087654	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.78389654127837E-5	0.0
18	13089443	C	A	18	13089444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00150868422946145	0.054
18	13089443	C	G	18	13089444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.06078198997004E-4	0.04
18	13089443	C	T	18	13089444	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.12489500715504E-4	0.002
18	13089444	T	A	18	13089445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.884524644620776	0.572
18	13089444	T	C	18	13089445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0614988980238735	0.26
18	13089444	T	G	18	13089445	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.845653503931349	0.578
18	13089445	C	A	18	13089446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.37988933702198E-4	0.052
18	13089445	C	G	18	13089446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.16948977244645E-4	0.01
18	13089445	C	T	18	13089446	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95048459408849E-5	0.0
18	13089446	T	A	18	13089447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.253203092708692	0.452
18	13089446	T	C	18	13089447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.42756204560458E-4	0.028
18	13089446	T	G	18	13089447	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.07164812612044	0.314
18	13089447	C	A	18	13089448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.46359775814283E-4	0.058
18	13089447	C	G	18	13089448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00419481384288207	0.074
18	13089447	C	T	18	13089448	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.53744733415646E-5	0.036
18	13089448	C	A	18	13089449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.25719292151526E-4	0.03
18	13089448	C	G	18	13089449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.06686819593784E-4	0.02
18	13089448	C	T	18	13089449	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.53525250370679E-5	0.008
18	13089449	T	A	18	13089450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999908316141888	0.958
18	13089449	T	C	18	13089450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.86843507023561E-4	0.05
18	13089449	T	G	18	13089450	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.196255462160539	0.432
18	13089450	G	A	18	13089451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.785237043212926	0.516
18	13089450	G	C	18	13089451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.24456442062327E-4	0.052
18	13089450	G	T	18	13089451	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.93193611653398E-4	0.054
18	13089451	G	A	18	13089452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.70603963625325E-5	0.0
18	13089451	G	C	18	13089452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.03924416068849E-5	0.004
18	13089451	G	T	18	13089452	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.5241607723009E-5	0.004
18	13089452	C	A	18	13089453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.895863300745021	0.662
18	13089452	C	G	18	13089453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999487612112412	0.866
18	13089452	C	T	18	13089453	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0215555680749507	0.266
18	13089453	A	C	18	13089454	y	y	splicing	CEP192(NM_032142:exon33:c.5994-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4206-2A>C;ENST00000506447:exon33:c.5994-2A>C;ENST00000513432:exon27:c.6733-2A>C;ENST00000430049:exon23:c.4569-2A>C;ENST00000511820:exon23:c.4610-2A>C;ENST00000510237:exon24:c.4794-2A>C;ENST00000589993:exon13:c.1637-2A>C;ENST00000508150:exon2:c.130-2A>C)	.	.	0.999961169273967	0.818
18	13089453	A	G	18	13089454	y	y	splicing	CEP192(NM_032142:exon33:c.5994-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4206-2A>G;ENST00000506447:exon33:c.5994-2A>G;ENST00000513432:exon27:c.6733-2A>G;ENST00000430049:exon23:c.4569-2A>G;ENST00000511820:exon23:c.4610-2A>G;ENST00000510237:exon24:c.4794-2A>G;ENST00000589993:exon13:c.1637-2A>G;ENST00000508150:exon2:c.130-2A>G)	.	.	0.999961169273967	0.818
18	13089453	A	T	18	13089454	y	y	splicing	CEP192(NM_032142:exon33:c.5994-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4206-2A>T;ENST00000506447:exon33:c.5994-2A>T;ENST00000513432:exon27:c.6733-2A>T;ENST00000430049:exon23:c.4569-2A>T;ENST00000511820:exon23:c.4610-2A>T;ENST00000510237:exon24:c.4794-2A>T;ENST00000589993:exon13:c.1637-2A>T;ENST00000508150:exon2:c.130-2A>T)	.	.	0.999961169273967	0.86
18	13089454	G	A	18	13089455	y	y	splicing	CEP192(NM_032142:exon33:c.5994-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4206-1G>A;ENST00000506447:exon33:c.5994-1G>A;ENST00000513432:exon27:c.6733-1G>A;ENST00000430049:exon23:c.4569-1G>A;ENST00000511820:exon23:c.4610-1G>A;ENST00000510237:exon24:c.4794-1G>A;ENST00000589993:exon13:c.1637-1G>A;ENST00000508150:exon2:c.130-1G>A)	.	.	0.999963459507881	0.872
18	13089454	G	C	18	13089455	y	y	splicing	CEP192(NM_032142:exon33:c.5994-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4206-1G>C;ENST00000506447:exon33:c.5994-1G>C;ENST00000513432:exon27:c.6733-1G>C;ENST00000430049:exon23:c.4569-1G>C;ENST00000511820:exon23:c.4610-1G>C;ENST00000510237:exon24:c.4794-1G>C;ENST00000589993:exon13:c.1637-1G>C;ENST00000508150:exon2:c.130-1G>C)	.	.	0.999955974981325	0.864
18	13089454	G	T	18	13089455	y	y	splicing	CEP192(NM_032142:exon33:c.5994-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4206-1G>T;ENST00000506447:exon33:c.5994-1G>T;ENST00000513432:exon27:c.6733-1G>T;ENST00000430049:exon23:c.4569-1G>T;ENST00000511820:exon23:c.4610-1G>T;ENST00000510237:exon24:c.4794-1G>T;ENST00000589993:exon13:c.1637-1G>T;ENST00000508150:exon2:c.130-1G>T)	.	.	0.999964002717955	0.872
18	13089455	G	A	18	13089456	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon33:c.G5994A:p.R1998R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000508150:exon2:c.G130A:p.G44S;	0.00198513730860209	0.172
18	13089455	G	C	18	13089456	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.G5994C:p.R1998S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.G4794C:p.R1598S;ENSG00000101639:ENST00000325971:exon31:c.G4206C:p.R1402S;ENSG00000101639:ENST00000508150:exon2:c.G130C:p.G44R;ENSG00000101639:ENST00000506447:exon33:c.G5994C:p.R1998S;ENSG00000101639:ENST00000430049:exon23:c.G4569C:p.R1523S;	0.0180667763212193	0.492
18	13089455	G	T	18	13089456	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.G5994T:p.R1998S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.G4794T:p.R1598S;ENSG00000101639:ENST00000325971:exon31:c.G4206T:p.R1402S;ENSG00000101639:ENST00000508150:exon2:c.G130T:p.G44C;ENSG00000101639:ENST00000506447:exon33:c.G5994T:p.R1998S;ENSG00000101639:ENST00000430049:exon23:c.G4569T:p.R1523S;	0.281453040063766	0.592
18	13089456	G	A	18	13089457	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.G5995A:p.A1999T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.G4795A:p.A1599T;ENSG00000101639:ENST00000325971:exon31:c.G4207A:p.A1403T;ENSG00000101639:ENST00000508150:exon2:c.G131A:p.G44D;ENSG00000101639:ENST00000506447:exon33:c.G5995A:p.A1999T;ENSG00000101639:ENST00000430049:exon23:c.G4570A:p.A1524T;	0.552618817261705	0.484
18	13089456	G	C	18	13089457	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.G5995C:p.A1999P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.G4795C:p.A1599P;ENSG00000101639:ENST00000325971:exon31:c.G4207C:p.A1403P;ENSG00000101639:ENST00000508150:exon2:c.G131C:p.G44A;ENSG00000101639:ENST00000506447:exon33:c.G5995C:p.A1999P;ENSG00000101639:ENST00000430049:exon23:c.G4570C:p.A1524P;	0.0132386040333933	0.11
18	13089456	G	T	18	13089457	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.G5995T:p.A1999S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.G4795T:p.A1599S;ENSG00000101639:ENST00000325971:exon31:c.G4207T:p.A1403S;ENSG00000101639:ENST00000508150:exon2:c.G131T:p.G44V;ENSG00000101639:ENST00000506447:exon33:c.G5995T:p.A1999S;ENSG00000101639:ENST00000430049:exon23:c.G4570T:p.A1524S;	0.0144783505601927	0.114
18	13089562	A	C	18	13089563	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.A6101C:p.E2034A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.A4901C:p.E1634A;ENSG00000101639:ENST00000325971:exon31:c.A4313C:p.E1438A;ENSG00000101639:ENST00000506447:exon33:c.A6101C:p.E2034A;ENSG00000101639:ENST00000430049:exon23:c.A4676C:p.E1559A;	0.607536450215911	0.576
18	13089562	A	G	18	13089563	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.A6101G:p.E2034G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.A4901G:p.E1634G;ENSG00000101639:ENST00000325971:exon31:c.A4313G:p.E1438G;ENSG00000101639:ENST00000506447:exon33:c.A6101G:p.E2034G;ENSG00000101639:ENST00000430049:exon23:c.A4676G:p.E1559G;	0.149846103883554	0.308
18	13089562	A	T	18	13089563	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.A6101T:p.E2034V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.A4901T:p.E1634V;ENSG00000101639:ENST00000325971:exon31:c.A4313T:p.E1438V;ENSG00000101639:ENST00000506447:exon33:c.A6101T:p.E2034V;ENSG00000101639:ENST00000430049:exon23:c.A4676T:p.E1559V;	0.890391480921064	0.484
18	13089563	A	C	18	13089564	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.A6102C:p.E2034D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.A4902C:p.E1634D;ENSG00000101639:ENST00000325971:exon31:c.A4314C:p.E1438D;ENSG00000101639:ENST00000506447:exon33:c.A6102C:p.E2034D;ENSG00000101639:ENST00000430049:exon23:c.A4677C:p.E1559D;	0.988366614330057	0.85
18	13089563	A	G	18	13089564	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon33:c.A6102G:p.E2034E;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.A4902G:p.E1634E;ENSG00000101639:ENST00000325971:exon31:c.A4314G:p.E1438E;ENSG00000101639:ENST00000506447:exon33:c.A6102G:p.E2034E;ENSG00000101639:ENST00000430049:exon23:c.A4677G:p.E1559E;	0.964965845264432	0.88
18	13089563	A	T	18	13089564	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.A6102T:p.E2034D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.A4902T:p.E1634D;ENSG00000101639:ENST00000325971:exon31:c.A4314T:p.E1438D;ENSG00000101639:ENST00000506447:exon33:c.A6102T:p.E2034D;ENSG00000101639:ENST00000430049:exon23:c.A4677T:p.E1559D;	0.981633408619406	0.606
18	13089564	G	A	18	13089565	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.G6103A:p.V2035I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.G4903A:p.V1635I;ENSG00000101639:ENST00000325971:exon31:c.G4315A:p.V1439I;ENSG00000101639:ENST00000506447:exon33:c.G6103A:p.V2035I;ENSG00000101639:ENST00000430049:exon23:c.G4678A:p.V1560I;	0.999715102726484	0.962
18	13089564	G	C	18	13089565	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.G6103C:p.V2035L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.G4903C:p.V1635L;ENSG00000101639:ENST00000325971:exon31:c.G4315C:p.V1439L;ENSG00000101639:ENST00000506447:exon33:c.G6103C:p.V2035L;ENSG00000101639:ENST00000430049:exon23:c.G4678C:p.V1560L;	0.999838071094746	0.926
18	13089564	G	T	18	13089565	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon33:c.G6103T:p.V2035L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon24:c.G4903T:p.V1635L;ENSG00000101639:ENST00000325971:exon31:c.G4315T:p.V1439L;ENSG00000101639:ENST00000506447:exon33:c.G6103T:p.V2035L;ENSG00000101639:ENST00000430049:exon23:c.G4678T:p.V1560L;	0.999720310343479	0.994
18	13089565	G	A	18	13089566	y	y	splicing	CEP192(NM_032142:exon33:c.6103+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4315+1G>A;ENST00000506447:exon33:c.6103+1G>A;ENST00000513432:exon27:c.6842+1G>A;ENST00000430049:exon23:c.4678+1G>A;ENST00000511820:exon23:c.4719+1G>A;ENST00000510237:exon24:c.4903+1G>A;ENST00000589993:exon13:c.1746+1G>A;ENST00000508150:exon2:c.239+1G>A)	.	.	0.999986675681007	0.932
18	13089565	G	C	18	13089566	y	y	splicing	CEP192(NM_032142:exon33:c.6103+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4315+1G>C;ENST00000506447:exon33:c.6103+1G>C;ENST00000513432:exon27:c.6842+1G>C;ENST00000430049:exon23:c.4678+1G>C;ENST00000511820:exon23:c.4719+1G>C;ENST00000510237:exon24:c.4903+1G>C;ENST00000589993:exon13:c.1746+1G>C;ENST00000508150:exon2:c.239+1G>C)	.	.	0.999986675681007	0.932
18	13089565	G	T	18	13089566	y	y	splicing	CEP192(NM_032142:exon33:c.6103+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4315+1G>T;ENST00000506447:exon33:c.6103+1G>T;ENST00000513432:exon27:c.6842+1G>T;ENST00000430049:exon23:c.4678+1G>T;ENST00000511820:exon23:c.4719+1G>T;ENST00000510237:exon24:c.4903+1G>T;ENST00000589993:exon13:c.1746+1G>T;ENST00000508150:exon2:c.239+1G>T)	.	.	0.999986675681007	0.932
18	13089566	T	A	18	13089567	y	y	splicing	CEP192(NM_032142:exon33:c.6103+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4315+2T>A;ENST00000506447:exon33:c.6103+2T>A;ENST00000513432:exon27:c.6842+2T>A;ENST00000430049:exon23:c.4678+2T>A;ENST00000511820:exon23:c.4719+2T>A;ENST00000510237:exon24:c.4903+2T>A;ENST00000589993:exon13:c.1746+2T>A;ENST00000508150:exon2:c.239+2T>A)	.	.	0.999988247793601	0.928
18	13089566	T	C	18	13089567	y	y	splicing	CEP192(NM_032142:exon33:c.6103+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4315+2T>C;ENST00000506447:exon33:c.6103+2T>C;ENST00000513432:exon27:c.6842+2T>C;ENST00000430049:exon23:c.4678+2T>C;ENST00000511820:exon23:c.4719+2T>C;ENST00000510237:exon24:c.4903+2T>C;ENST00000589993:exon13:c.1746+2T>C;ENST00000508150:exon2:c.239+2T>C)	.	.	0.992054276455321	0.62
18	13089566	T	G	18	13089567	y	y	splicing	CEP192(NM_032142:exon33:c.6103+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon31:c.4315+2T>G;ENST00000506447:exon33:c.6103+2T>G;ENST00000513432:exon27:c.6842+2T>G;ENST00000430049:exon23:c.4678+2T>G;ENST00000511820:exon23:c.4719+2T>G;ENST00000510237:exon24:c.4903+2T>G;ENST00000589993:exon13:c.1746+2T>G;ENST00000508150:exon2:c.239+2T>G)	.	.	0.999988247793601	0.928
18	13089567	A	C	18	13089568	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.921839382699708	0.646
18	13089567	A	G	18	13089568	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00206565944699705	0.108
18	13089567	A	T	18	13089568	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.785625017893114	0.546
18	13089568	A	C	18	13089569	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0791961991061035	0.312
18	13089568	A	G	18	13089569	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.348119174928098	0.332
18	13089568	A	T	18	13089569	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.124299721467784	0.296
18	13089569	G	A	18	13089570	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.790742236934719	0.656
18	13089569	G	C	18	13089570	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.782254717359642	0.634
18	13089569	G	T	18	13089570	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.936541233693519	0.616
18	13089570	A	C	18	13089571	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.99749609931239E-4	0.014
18	13089570	A	G	18	13089571	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.69504130356772E-4	0.004
18	13089570	A	T	18	13089571	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.1398441961536E-4	0.014
18	13089571	A	C	18	13089572	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.15267776820636E-5	0.0
18	13089571	A	G	18	13089572	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.98187936635727E-5	0.0
18	13089571	A	T	18	13089572	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.18287573679198E-5	0.0
18	13089572	T	A	18	13089573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.12689098276539E-4	0.01
18	13089572	T	C	18	13089573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.28931909661929E-4	0.002
18	13089572	T	G	18	13089573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.28931909661929E-4	0.008
18	13092364	T	A	18	13092365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0282541722864042	0.422
18	13092364	T	C	18	13092365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00259621429624173	0.068
18	13092364	T	G	18	13092365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0929838481314886	0.4
18	13092365	T	A	18	13092366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.29491097924059	0.382
18	13092365	T	C	18	13092366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00798685371043108	0.124
18	13092365	T	G	18	13092366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.390107988082263	0.396
18	13092366	T	A	18	13092367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.891287163368474	0.75
18	13092366	T	C	18	13092367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00130233889652648	0.084
18	13092366	T	G	18	13092367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.890575617068258	0.798
18	13092367	C	A	18	13092368	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0101239294225931	0.088
18	13092367	C	G	18	13092368	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00369715177257123	0.092
18	13092367	C	T	18	13092368	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00136068087604785	0.072
18	13092368	T	A	18	13092369	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.090788785326095	0.244
18	13092368	T	C	18	13092369	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.10215256011796E-4	0.004
18	13092368	T	G	18	13092369	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00587327786409521	0.166
18	13092369	A	C	18	13092370	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.81680800219918E-5	0.01
18	13092369	A	G	18	13092370	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.33901116939459E-5	0.006
18	13092369	A	T	18	13092370	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.27264204332544E-6	0.004
18	13092370	T	A	18	13092371	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.891465334422433	0.506
18	13092370	T	C	18	13092371	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00213679861415079	0.072
18	13092370	T	G	18	13092371	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999933459257024	0.95
18	13092371	T	A	18	13092372	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.92655440577211	0.596
18	13092371	T	C	18	13092372	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0362473593168261	0.206
18	13092371	T	G	18	13092372	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.965116513794368	0.61
18	13092372	T	A	18	13092373	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68933771097469E-4	0.008
18	13092372	T	C	18	13092373	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.63337452857959E-4	0.024
18	13092372	T	G	18	13092373	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.48861913339551E-4	0.01
18	13092373	C	A	18	13092374	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.609796842316386	0.568
18	13092373	C	G	18	13092374	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999159172486352	0.796
18	13092373	C	T	18	13092374	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00103239320423781	0.128
18	13092374	A	C	18	13092375	y	y	splicing	CEP192(NM_032142:exon34:c.6104-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4316-2A>C;ENST00000506447:exon34:c.6104-2A>C;ENST00000513432:exon28:c.6843-2A>C;ENST00000430049:exon24:c.4679-2A>C;ENST00000511820:exon24:c.4720-2A>C;ENST00000510237:exon25:c.4904-2A>C;ENST00000589993:exon14:c.1747-2A>C;ENST00000508150:exon3:c.240-2A>C)	.	.	0.999991478261395	0.936
18	13092374	A	G	18	13092375	y	y	splicing	CEP192(NM_032142:exon34:c.6104-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4316-2A>G;ENST00000506447:exon34:c.6104-2A>G;ENST00000513432:exon28:c.6843-2A>G;ENST00000430049:exon24:c.4679-2A>G;ENST00000511820:exon24:c.4720-2A>G;ENST00000510237:exon25:c.4904-2A>G;ENST00000589993:exon14:c.1747-2A>G;ENST00000508150:exon3:c.240-2A>G)	.	.	0.999991478261395	0.936
18	13092374	A	T	18	13092375	y	y	splicing	CEP192(NM_032142:exon34:c.6104-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4316-2A>T;ENST00000506447:exon34:c.6104-2A>T;ENST00000513432:exon28:c.6843-2A>T;ENST00000430049:exon24:c.4679-2A>T;ENST00000511820:exon24:c.4720-2A>T;ENST00000510237:exon25:c.4904-2A>T;ENST00000589993:exon14:c.1747-2A>T;ENST00000508150:exon3:c.240-2A>T)	.	.	0.999991478261395	0.936
18	13092375	G	A	18	13092376	y	y	splicing	CEP192(NM_032142:exon34:c.6104-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4316-1G>A;ENST00000506447:exon34:c.6104-1G>A;ENST00000513432:exon28:c.6843-1G>A;ENST00000430049:exon24:c.4679-1G>A;ENST00000511820:exon24:c.4720-1G>A;ENST00000510237:exon25:c.4904-1G>A;ENST00000589993:exon14:c.1747-1G>A;ENST00000508150:exon3:c.240-1G>A)	.	.	0.999986741007567	0.92
18	13092375	G	C	18	13092376	y	y	splicing	CEP192(NM_032142:exon34:c.6104-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4316-1G>C;ENST00000506447:exon34:c.6104-1G>C;ENST00000513432:exon28:c.6843-1G>C;ENST00000430049:exon24:c.4679-1G>C;ENST00000511820:exon24:c.4720-1G>C;ENST00000510237:exon25:c.4904-1G>C;ENST00000589993:exon14:c.1747-1G>C;ENST00000508150:exon3:c.240-1G>C)	.	.	0.999986741007567	0.92
18	13092375	G	T	18	13092376	y	y	splicing	CEP192(NM_032142:exon34:c.6104-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4316-1G>T;ENST00000506447:exon34:c.6104-1G>T;ENST00000513432:exon28:c.6843-1G>T;ENST00000430049:exon24:c.4679-1G>T;ENST00000511820:exon24:c.4720-1G>T;ENST00000510237:exon25:c.4904-1G>T;ENST00000589993:exon14:c.1747-1G>T;ENST00000508150:exon3:c.240-1G>T)	.	.	0.999986741007567	0.92
18	13092376	T	A	18	13092377	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.T6104A:p.V2035E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.T4904A:p.V1635E;ENSG00000101639:ENST00000325971:exon32:c.T4316A:p.V1439E;ENSG00000101639:ENST00000506447:exon34:c.T6104A:p.V2035E;ENSG00000101639:ENST00000430049:exon24:c.T4679A:p.V1560E;	6.27422429004597E-4	0.04
18	13092376	T	C	18	13092377	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.T6104C:p.V2035A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.T4904C:p.V1635A;ENSG00000101639:ENST00000325971:exon32:c.T4316C:p.V1439A;ENSG00000101639:ENST00000506447:exon34:c.T6104C:p.V2035A;ENSG00000101639:ENST00000430049:exon24:c.T4679C:p.V1560A;	4.2672808421574E-4	0.03
18	13092376	T	G	18	13092377	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.T6104G:p.V2035G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.T4904G:p.V1635G;ENSG00000101639:ENST00000325971:exon32:c.T4316G:p.V1439G;ENSG00000101639:ENST00000506447:exon34:c.T6104G:p.V2035G;ENSG00000101639:ENST00000430049:exon24:c.T4679G:p.V1560G;	0.0028478816517867	0.15
18	13092377	A	C	18	13092378	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon34:c.A6105C:p.V2035V;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A4905C:p.V1635V;ENSG00000101639:ENST00000325971:exon32:c.A4317C:p.V1439V;ENSG00000101639:ENST00000506447:exon34:c.A6105C:p.V2035V;ENSG00000101639:ENST00000430049:exon24:c.A4680C:p.V1560V;	6.35745621034238E-5	0.0
18	13092377	A	G	18	13092378	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon34:c.A6105G:p.V2035V;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A4905G:p.V1635V;ENSG00000101639:ENST00000325971:exon32:c.A4317G:p.V1439V;ENSG00000101639:ENST00000506447:exon34:c.A6105G:p.V2035V;ENSG00000101639:ENST00000430049:exon24:c.A4680G:p.V1560V;	3.65221260168851E-5	0.018
18	13092377	A	T	18	13092378	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon34:c.A6105T:p.V2035V;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A4905T:p.V1635V;ENSG00000101639:ENST00000325971:exon32:c.A4317T:p.V1439V;ENSG00000101639:ENST00000506447:exon34:c.A6105T:p.V2035V;ENSG00000101639:ENST00000430049:exon24:c.A4680T:p.V1560V;	1.91125882881432E-5	0.002
18	13092524	A	C	18	13092525	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon34:c.A6252C:p.T2084T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A5052C:p.T1684T;ENSG00000101639:ENST00000325971:exon32:c.A4464C:p.T1488T;ENSG00000101639:ENST00000506447:exon34:c.A6252C:p.T2084T;ENSG00000101639:ENST00000430049:exon24:c.A4827C:p.T1609T;	8.00062626335975E-5	0.004
18	13092524	A	G	18	13092525	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon34:c.A6252G:p.T2084T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A5052G:p.T1684T;ENSG00000101639:ENST00000325971:exon32:c.A4464G:p.T1488T;ENSG00000101639:ENST00000506447:exon34:c.A6252G:p.T2084T;ENSG00000101639:ENST00000430049:exon24:c.A4827G:p.T1609T;	6.20676413816026E-5	0.008
18	13092524	A	T	18	13092525	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon34:c.A6252T:p.T2084T;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A5052T:p.T1684T;ENSG00000101639:ENST00000325971:exon32:c.A4464T:p.T1488T;ENSG00000101639:ENST00000506447:exon34:c.A6252T:p.T2084T;ENSG00000101639:ENST00000430049:exon24:c.A4827T:p.T1609T;	0.0853002595524638	0.352
18	13092525	A	C	18	13092526	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.A6253C:p.S2085R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A5053C:p.S1685R;ENSG00000101639:ENST00000325971:exon32:c.A4465C:p.S1489R;ENSG00000101639:ENST00000506447:exon34:c.A6253C:p.S2085R;ENSG00000101639:ENST00000430049:exon24:c.A4828C:p.S1610R;	0.625384233879817	0.572
18	13092525	A	G	18	13092526	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.A6253G:p.S2085G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A5053G:p.S1685G;ENSG00000101639:ENST00000325971:exon32:c.A4465G:p.S1489G;ENSG00000101639:ENST00000506447:exon34:c.A6253G:p.S2085G;ENSG00000101639:ENST00000430049:exon24:c.A4828G:p.S1610G;	0.945892601726702	0.696
18	13092525	A	T	18	13092526	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.A6253T:p.S2085C;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.A5053T:p.S1685C;ENSG00000101639:ENST00000325971:exon32:c.A4465T:p.S1489C;ENSG00000101639:ENST00000506447:exon34:c.A6253T:p.S2085C;ENSG00000101639:ENST00000430049:exon24:c.A4828T:p.S1610C;	0.998411727538524	0.978
18	13092526	G	A	18	13092527	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.G6254A:p.S2085N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.G5054A:p.S1685N;ENSG00000101639:ENST00000325971:exon32:c.G4466A:p.S1489N;ENSG00000101639:ENST00000506447:exon34:c.G6254A:p.S2085N;ENSG00000101639:ENST00000430049:exon24:c.G4829A:p.S1610N;	0.999981982087355	0.998
18	13092526	G	C	18	13092527	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.G6254C:p.S2085T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.G5054C:p.S1685T;ENSG00000101639:ENST00000325971:exon32:c.G4466C:p.S1489T;ENSG00000101639:ENST00000506447:exon34:c.G6254C:p.S2085T;ENSG00000101639:ENST00000430049:exon24:c.G4829C:p.S1610T;	0.999994689761491	0.996
18	13092526	G	T	18	13092527	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon34:c.G6254T:p.S2085I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon25:c.G5054T:p.S1685I;ENSG00000101639:ENST00000325971:exon32:c.G4466T:p.S1489I;ENSG00000101639:ENST00000506447:exon34:c.G6254T:p.S2085I;ENSG00000101639:ENST00000430049:exon24:c.G4829T:p.S1610I;	0.999987071540882	0.988
18	13092527	G	A	18	13092528	y	y	splicing	CEP192(NM_032142:exon34:c.6254+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4466+1G>A;ENST00000506447:exon34:c.6254+1G>A;ENST00000513432:exon28:c.6993+1G>A;ENST00000430049:exon24:c.4829+1G>A;ENST00000511820:exon24:c.4870+1G>A;ENST00000510237:exon25:c.5054+1G>A;ENST00000589993:exon14:c.1897+1G>A;ENST00000508150:exon3:c.390+1G>A)	.	.	0.99993575003413	0.806
18	13092527	G	C	18	13092528	y	y	splicing	CEP192(NM_032142:exon34:c.6254+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4466+1G>C;ENST00000506447:exon34:c.6254+1G>C;ENST00000513432:exon28:c.6993+1G>C;ENST00000430049:exon24:c.4829+1G>C;ENST00000511820:exon24:c.4870+1G>C;ENST00000510237:exon25:c.5054+1G>C;ENST00000589993:exon14:c.1897+1G>C;ENST00000508150:exon3:c.390+1G>C)	.	.	0.999965752156628	0.782
18	13092527	G	T	18	13092528	y	y	splicing	CEP192(NM_032142:exon34:c.6254+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4466+1G>T;ENST00000506447:exon34:c.6254+1G>T;ENST00000513432:exon28:c.6993+1G>T;ENST00000430049:exon24:c.4829+1G>T;ENST00000511820:exon24:c.4870+1G>T;ENST00000510237:exon25:c.5054+1G>T;ENST00000589993:exon14:c.1897+1G>T;ENST00000508150:exon3:c.390+1G>T)	.	.	0.99993575003413	0.8
18	13092528	T	A	18	13092529	y	y	splicing	CEP192(NM_032142:exon34:c.6254+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4466+2T>A;ENST00000506447:exon34:c.6254+2T>A;ENST00000513432:exon28:c.6993+2T>A;ENST00000430049:exon24:c.4829+2T>A;ENST00000511820:exon24:c.4870+2T>A;ENST00000510237:exon25:c.5054+2T>A;ENST00000589993:exon14:c.1897+2T>A;ENST00000508150:exon3:c.390+2T>A)	.	.	0.999972155025474	0.858
18	13092528	T	C	18	13092529	y	y	splicing	CEP192(NM_032142:exon34:c.6254+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4466+2T>C;ENST00000506447:exon34:c.6254+2T>C;ENST00000513432:exon28:c.6993+2T>C;ENST00000430049:exon24:c.4829+2T>C;ENST00000511820:exon24:c.4870+2T>C;ENST00000510237:exon25:c.5054+2T>C;ENST00000589993:exon14:c.1897+2T>C;ENST00000508150:exon3:c.390+2T>C)	.	.	0.954837560264326	0.56
18	13092528	T	G	18	13092529	y	y	splicing	CEP192(NM_032142:exon34:c.6254+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon32:c.4466+2T>G;ENST00000506447:exon34:c.6254+2T>G;ENST00000513432:exon28:c.6993+2T>G;ENST00000430049:exon24:c.4829+2T>G;ENST00000511820:exon24:c.4870+2T>G;ENST00000510237:exon25:c.5054+2T>G;ENST00000589993:exon14:c.1897+2T>G;ENST00000508150:exon3:c.390+2T>G)	.	.	0.999969255906173	0.862
18	13092529	A	C	18	13092530	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999848695971649	0.944
18	13092529	A	G	18	13092530	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.991660029960174	0.482
18	13092529	A	T	18	13092530	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99976611025196	0.92
18	13092530	A	C	18	13092531	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0458002632463368	0.328
18	13092530	A	G	18	13092531	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.231461553174091	0.458
18	13092530	A	T	18	13092531	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.233852058345799	0.47
18	13092531	A	C	18	13092532	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.03287220801937E-4	0.022
18	13092531	A	G	18	13092532	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.95592633139713E-5	0.004
18	13092531	A	T	18	13092532	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.9002382289717E-5	0.01
18	13092532	A	C	18	13092533	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.23078384704465E-4	0.036
18	13092532	A	G	18	13092533	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.35886876657355E-5	0.004
18	13092532	A	T	18	13092533	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.31828904582659E-5	0.0
18	13092533	T	A	18	13092534	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99769738680469E-5	0.008
18	13092533	T	C	18	13092534	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95416100750369E-5	0.002
18	13092533	T	G	18	13092534	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95416100750369E-5	0.002
18	13092534	A	C	18	13092535	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.0601921845677E-4	0.0
18	13092534	A	G	18	13092535	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.78958691012223E-5	0.0
18	13092534	A	T	18	13092535	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.27328580540714E-4	0.0
18	13095490	A	C	18	13095491	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.853270848107E-5	0.016
18	13095490	A	G	18	13095491	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999120702244676	0.974
18	13095490	A	T	18	13095491	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.853270848107E-5	0.042
18	13095491	T	A	18	13095492	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.127384140638936	0.556
18	13095491	T	C	18	13095492	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00311341172830152	0.268
18	13095491	T	G	18	13095492	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999915815365328	0.952
18	13095492	A	C	18	13095493	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.61327626129568E-5	0.0
18	13095492	A	G	18	13095493	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.15598163219457E-5	0.0
18	13095492	A	T	18	13095493	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.61327626129568E-5	0.0
18	13095493	A	C	18	13095494	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.41573741002555E-4	0.022
18	13095493	A	G	18	13095494	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999611090559971	0.964
18	13095493	A	T	18	13095494	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.05438873062091E-4	0.044
18	13095494	T	A	18	13095495	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00654808340998636	0.242
18	13095494	T	C	18	13095495	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.18298569185882E-4	0.002
18	13095494	T	G	18	13095495	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999864962552447	0.986
18	13095495	T	A	18	13095496	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.387279821980583	0.426
18	13095495	T	C	18	13095496	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00378973443656283	0.144
18	13095495	T	G	18	13095496	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.331193011792591	0.416
18	13095496	T	A	18	13095497	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.725153306111985	0.614
18	13095496	T	C	18	13095497	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.30341345159111E-4	0.034
18	13095496	T	G	18	13095497	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.682019192487048	0.588
18	13095497	T	A	18	13095498	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.818588008430405	0.52
18	13095497	T	C	18	13095498	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00131196210177721	0.144
18	13095497	T	G	18	13095498	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.937316576340817	0.58
18	13095498	T	A	18	13095499	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.88971429868084E-5	0.006
18	13095498	T	C	18	13095499	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.60724478137885E-5	0.014
18	13095498	T	G	18	13095499	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.24300997666828E-4	0.04
18	13095499	T	A	18	13095500	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00109649143010809	0.25
18	13095499	T	C	18	13095500	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.65632843271576E-5	0.068
18	13095499	T	G	18	13095500	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.959766247670816	0.582
18	13095500	A	C	18	13095501	y	y	splicing	CEP192(NM_032142:exon35:c.6255-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4467-2A>C;ENST00000506447:exon35:c.6255-2A>C;ENST00000513432:exon29:c.6994-2A>C;ENST00000430049:exon25:c.4830-2A>C;ENST00000511820:exon25:c.4871-2A>C;ENST00000510237:exon26:c.5055-2A>C;ENST00000589993:exon15:c.1898-2A>C;ENST00000508150:exon4:c.391-2A>C)	.	.	0.999873195202124	0.788
18	13095500	A	G	18	13095501	y	y	splicing	CEP192(NM_032142:exon35:c.6255-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4467-2A>G;ENST00000506447:exon35:c.6255-2A>G;ENST00000513432:exon29:c.6994-2A>G;ENST00000430049:exon25:c.4830-2A>G;ENST00000511820:exon25:c.4871-2A>G;ENST00000510237:exon26:c.5055-2A>G;ENST00000589993:exon15:c.1898-2A>G;ENST00000508150:exon4:c.391-2A>G)	.	.	0.999873195202124	0.788
18	13095500	A	T	18	13095501	y	y	splicing	CEP192(NM_032142:exon35:c.6255-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4467-2A>T;ENST00000506447:exon35:c.6255-2A>T;ENST00000513432:exon29:c.6994-2A>T;ENST00000430049:exon25:c.4830-2A>T;ENST00000511820:exon25:c.4871-2A>T;ENST00000510237:exon26:c.5055-2A>T;ENST00000589993:exon15:c.1898-2A>T;ENST00000508150:exon4:c.391-2A>T)	.	.	0.999873195202124	0.79
18	13095501	G	A	18	13095502	y	y	splicing	CEP192(NM_032142:exon35:c.6255-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4467-1G>A;ENST00000506447:exon35:c.6255-1G>A;ENST00000513432:exon29:c.6994-1G>A;ENST00000430049:exon25:c.4830-1G>A;ENST00000511820:exon25:c.4871-1G>A;ENST00000510237:exon26:c.5055-1G>A;ENST00000589993:exon15:c.1898-1G>A;ENST00000508150:exon4:c.391-1G>A)	.	.	0.999871756820792	0.756
18	13095501	G	C	18	13095502	y	y	splicing	CEP192(NM_032142:exon35:c.6255-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4467-1G>C;ENST00000506447:exon35:c.6255-1G>C;ENST00000513432:exon29:c.6994-1G>C;ENST00000430049:exon25:c.4830-1G>C;ENST00000511820:exon25:c.4871-1G>C;ENST00000510237:exon26:c.5055-1G>C;ENST00000589993:exon15:c.1898-1G>C;ENST00000508150:exon4:c.391-1G>C)	.	.	0.999871756820792	0.752
18	13095501	G	T	18	13095502	y	y	splicing	CEP192(NM_032142:exon35:c.6255-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4467-1G>T;ENST00000506447:exon35:c.6255-1G>T;ENST00000513432:exon29:c.6994-1G>T;ENST00000430049:exon25:c.4830-1G>T;ENST00000511820:exon25:c.4871-1G>T;ENST00000510237:exon26:c.5055-1G>T;ENST00000589993:exon15:c.1898-1G>T;ENST00000508150:exon4:c.391-1G>T)	.	.	0.999871756820792	0.752
18	13095502	C	A	18	13095503	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.C6255A:p.S2085R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.C5055A:p.S1685R;ENSG00000101639:ENST00000325971:exon33:c.C4467A:p.S1489R;ENSG00000101639:ENST00000506447:exon35:c.C6255A:p.S2085R;ENSG00000101639:ENST00000430049:exon25:c.C4830A:p.S1610R;	1.32764103776405E-5	0.004
18	13095502	C	G	18	13095503	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.C6255G:p.S2085R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.C5055G:p.S1685R;ENSG00000101639:ENST00000325971:exon33:c.C4467G:p.S1489R;ENSG00000101639:ENST00000506447:exon35:c.C6255G:p.S2085R;ENSG00000101639:ENST00000430049:exon25:c.C4830G:p.S1610R;	4.75296142731738E-5	0.064
18	13095502	C	T	18	13095503	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon35:c.C6255T:p.S2085S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.C5055T:p.S1685S;ENSG00000101639:ENST00000325971:exon33:c.C4467T:p.S1489S;ENSG00000101639:ENST00000506447:exon35:c.C6255T:p.S2085S;ENSG00000101639:ENST00000430049:exon25:c.C4830T:p.S1610S;	4.16154831180783E-5	0.056
18	13095503	G	A	18	13095504	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.G6256A:p.D2086N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.G5056A:p.D1686N;ENSG00000101639:ENST00000325971:exon33:c.G4468A:p.D1490N;ENSG00000101639:ENST00000506447:exon35:c.G6256A:p.D2086N;ENSG00000101639:ENST00000430049:exon25:c.G4831A:p.D1611N;	0.00481671501974212	0.082
18	13095503	G	C	18	13095504	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.G6256C:p.D2086H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.G5056C:p.D1686H;ENSG00000101639:ENST00000325971:exon33:c.G4468C:p.D1490H;ENSG00000101639:ENST00000506447:exon35:c.G6256C:p.D2086H;ENSG00000101639:ENST00000430049:exon25:c.G4831C:p.D1611H;	0.0060189543888583	0.234
18	13095503	G	T	18	13095504	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.G6256T:p.D2086Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.G5056T:p.D1686Y;ENSG00000101639:ENST00000325971:exon33:c.G4468T:p.D1490Y;ENSG00000101639:ENST00000506447:exon35:c.G6256T:p.D2086Y;ENSG00000101639:ENST00000430049:exon25:c.G4831T:p.D1611Y;	0.00321631763065692	0.092
18	13095678	C	A	18	13095679	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.C6431A:p.P2144H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.C5231A:p.P1744H;ENSG00000101639:ENST00000325971:exon33:c.C4643A:p.P1548H;ENSG00000101639:ENST00000506447:exon35:c.C6431A:p.P2144H;ENSG00000101639:ENST00000430049:exon25:c.C5006A:p.P1669H;	0.914872524452825	0.698
18	13095678	C	G	18	13095679	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.C6431G:p.P2144R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.C5231G:p.P1744R;ENSG00000101639:ENST00000325971:exon33:c.C4643G:p.P1548R;ENSG00000101639:ENST00000506447:exon35:c.C6431G:p.P2144R;ENSG00000101639:ENST00000430049:exon25:c.C5006G:p.P1669R;	0.33508698031697	0.304
18	13095678	C	T	18	13095679	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.C6431T:p.P2144L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.C5231T:p.P1744L;ENSG00000101639:ENST00000325971:exon33:c.C4643T:p.P1548L;ENSG00000101639:ENST00000506447:exon35:c.C6431T:p.P2144L;ENSG00000101639:ENST00000430049:exon25:c.C5006T:p.P1669L;	0.940403001408359	0.722
18	13095679	T	A	18	13095680	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon35:c.T6432A:p.P2144P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.T5232A:p.P1744P;ENSG00000101639:ENST00000325971:exon33:c.T4644A:p.P1548P;ENSG00000101639:ENST00000506447:exon35:c.T6432A:p.P2144P;ENSG00000101639:ENST00000430049:exon25:c.T5007A:p.P1669P;	3.3112395064109E-4	0.21
18	13095679	T	C	18	13095680	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon35:c.T6432C:p.P2144P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.T5232C:p.P1744P;ENSG00000101639:ENST00000325971:exon33:c.T4644C:p.P1548P;ENSG00000101639:ENST00000506447:exon35:c.T6432C:p.P2144P;ENSG00000101639:ENST00000430049:exon25:c.T5007C:p.P1669P;	1.56104191527998E-4	0.01
18	13095679	T	G	18	13095680	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon35:c.T6432G:p.P2144P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.T5232G:p.P1744P;ENSG00000101639:ENST00000325971:exon33:c.T4644G:p.P1548P;ENSG00000101639:ENST00000506447:exon35:c.T6432G:p.P2144P;ENSG00000101639:ENST00000430049:exon25:c.T5007G:p.P1669P;	2.38537212684457E-4	0.07
18	13095680	T	A	18	13095681	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.T6433A:p.C2145S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.T5233A:p.C1745S;ENSG00000101639:ENST00000325971:exon33:c.T4645A:p.C1549S;ENSG00000101639:ENST00000506447:exon35:c.T6433A:p.C2145S;ENSG00000101639:ENST00000430049:exon25:c.T5008A:p.C1670S;	0.00180810656815315	0.02
18	13095680	T	C	18	13095681	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.T6433C:p.C2145R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.T5233C:p.C1745R;ENSG00000101639:ENST00000325971:exon33:c.T4645C:p.C1549R;ENSG00000101639:ENST00000506447:exon35:c.T6433C:p.C2145R;ENSG00000101639:ENST00000430049:exon25:c.T5008C:p.C1670R;	0.0108498773459997	0.288
18	13095680	T	G	18	13095681	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon35:c.T6433G:p.C2145G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon26:c.T5233G:p.C1745G;ENSG00000101639:ENST00000325971:exon33:c.T4645G:p.C1549G;ENSG00000101639:ENST00000506447:exon35:c.T6433G:p.C2145G;ENSG00000101639:ENST00000430049:exon25:c.T5008G:p.C1670G;	7.64626704867712E-4	0.1
18	13095681	G	A	18	13095682	y	y	splicing	CEP192(NM_032142:exon35:c.6433+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4645+1G>A;ENST00000506447:exon35:c.6433+1G>A;ENST00000513432:exon29:c.7172+1G>A;ENST00000430049:exon25:c.5008+1G>A;ENST00000511820:exon25:c.5049+1G>A;ENST00000510237:exon26:c.5233+1G>A;ENST00000589993:exon15:c.2076+1G>A)	.	.	0.999989072007339	0.934
18	13095681	G	C	18	13095682	y	y	splicing	CEP192(NM_032142:exon35:c.6433+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4645+1G>C;ENST00000506447:exon35:c.6433+1G>C;ENST00000513432:exon29:c.7172+1G>C;ENST00000430049:exon25:c.5008+1G>C;ENST00000511820:exon25:c.5049+1G>C;ENST00000510237:exon26:c.5233+1G>C;ENST00000589993:exon15:c.2076+1G>C)	.	.	0.999989072007339	0.934
18	13095681	G	T	18	13095682	y	y	splicing	CEP192(NM_032142:exon35:c.6433+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4645+1G>T;ENST00000506447:exon35:c.6433+1G>T;ENST00000513432:exon29:c.7172+1G>T;ENST00000430049:exon25:c.5008+1G>T;ENST00000511820:exon25:c.5049+1G>T;ENST00000510237:exon26:c.5233+1G>T;ENST00000589993:exon15:c.2076+1G>T)	.	.	0.999989072007339	0.934
18	13095682	T	A	18	13095683	y	y	splicing	CEP192(NM_032142:exon35:c.6433+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4645+2T>A;ENST00000506447:exon35:c.6433+2T>A;ENST00000513432:exon29:c.7172+2T>A;ENST00000430049:exon25:c.5008+2T>A;ENST00000511820:exon25:c.5049+2T>A;ENST00000510237:exon26:c.5233+2T>A;ENST00000589993:exon15:c.2076+2T>A)	.	.	0.999988247793601	0.928
18	13095682	T	C	18	13095683	y	y	splicing	CEP192(NM_032142:exon35:c.6433+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4645+2T>C;ENST00000506447:exon35:c.6433+2T>C;ENST00000513432:exon29:c.7172+2T>C;ENST00000430049:exon25:c.5008+2T>C;ENST00000511820:exon25:c.5049+2T>C;ENST00000510237:exon26:c.5233+2T>C;ENST00000589993:exon15:c.2076+2T>C)	.	.	0.99991520749976	0.882
18	13095682	T	G	18	13095683	y	y	splicing	CEP192(NM_032142:exon35:c.6433+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon33:c.4645+2T>G;ENST00000506447:exon35:c.6433+2T>G;ENST00000513432:exon29:c.7172+2T>G;ENST00000430049:exon25:c.5008+2T>G;ENST00000511820:exon25:c.5049+2T>G;ENST00000510237:exon26:c.5233+2T>G;ENST00000589993:exon15:c.2076+2T>G)	.	.	0.999988247793601	0.928
18	13095683	G	A	18	13095684	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.218549070814181	0.292
18	13095683	G	C	18	13095684	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.999941384190147	0.882
18	13095683	G	T	18	13095684	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.999942131629855	0.896
18	13095684	A	C	18	13095685	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.999516667922906	0.926
18	13095684	A	G	18	13095685	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.999760516413924	0.966
18	13095684	A	T	18	13095685	y	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	0.99989979855118	0.94
18	13095685	G	A	18	13095686	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999983342448007	0.998
18	13095685	G	C	18	13095686	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999969162415415	0.98
18	13095685	G	T	18	13095686	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999957015490162	0.968
18	13095686	T	A	18	13095687	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998046421986002	0.792
18	13095686	T	C	18	13095687	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.995828787224126	0.954
18	13095686	T	G	18	13095687	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998192338188846	0.876
18	13095687	A	C	18	13095688	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.14524880281804E-4	0.0
18	13095687	A	G	18	13095688	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.81980823078483E-5	0.0
18	13095687	A	T	18	13095688	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.82449594829055E-4	0.084
18	13095688	T	A	18	13095689	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00108345473715989	0.07
18	13095688	T	C	18	13095689	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.66545807510199E-4	0.012
18	13095688	T	G	18	13095689	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00792357510007611	0.152
18	13096171	C	A	18	13096172	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.98159853812514E-4	0.128
18	13096171	C	G	18	13096172	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.74940509447076E-4	0.068
18	13096171	C	T	18	13096172	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.30720152359839E-5	0.002
18	13096172	T	A	18	13096173	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999781915924917	0.932
18	13096172	T	C	18	13096173	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.798135402314768	0.622
18	13096172	T	G	18	13096173	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.990927677458687	0.858
18	13096173	G	A	18	13096174	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.19285309281567E-4	0.054
18	13096173	G	C	18	13096174	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.62195827924588E-4	0.044
18	13096173	G	T	18	13096174	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.11409062256435E-4	0.032
18	13096174	A	C	18	13096175	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.11677854452301E-4	0.038
18	13096174	A	G	18	13096175	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.27788953824051E-5	0.008
18	13096174	A	T	18	13096175	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.15597946485699E-4	0.056
18	13096175	C	A	18	13096176	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.01540076657314E-4	0.118
18	13096175	C	G	18	13096176	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996153368160913	0.968
18	13096175	C	T	18	13096176	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.72253772446981E-5	0.002
18	13096176	A	C	18	13096177	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.47100053945981E-5	0.06
18	13096176	A	G	18	13096177	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.1866117846906E-5	0.066
18	13096176	A	T	18	13096177	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.08945664525066E-5	0.068
18	13096177	A	C	18	13096178	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.01285627262415E-5	0.052
18	13096177	A	G	18	13096178	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.650541949471339	0.74
18	13096177	A	T	18	13096178	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.26282657477284E-5	0.0
18	13096178	A	C	18	13096179	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.0573417568642E-5	0.008
18	13096178	A	G	18	13096179	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998646047433157	0.962
18	13096178	A	T	18	13096179	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.26505703251638E-4	0.096
18	13096179	A	C	18	13096180	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.11243692232483E-4	0.05
18	13096179	A	G	18	13096180	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998353633257305	0.954
18	13096179	A	T	18	13096180	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.61978741470897E-4	0.036
18	13096180	T	A	18	13096181	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0086628082666258	0.294
18	13096180	T	C	18	13096181	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.35864120036354E-5	0.004
18	13096180	T	G	18	13096181	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.203459014406121	0.498
18	13096181	A	C	18	13096182	y	y	splicing	CEP192(NM_032142:exon36:c.6434-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4646-2A>C;ENST00000506447:exon36:c.6434-2A>C;ENST00000513432:exon30:c.7173-2A>C;ENST00000430049:exon26:c.5009-2A>C;ENST00000511820:exon26:c.5050-2A>C;ENST00000510237:exon27:c.5234-2A>C;ENST00000589993:exon16:c.2077-2A>C)	.	.	0.999480238218538	0.786
18	13096181	A	G	18	13096182	y	y	splicing	CEP192(NM_032142:exon36:c.6434-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4646-2A>G;ENST00000506447:exon36:c.6434-2A>G;ENST00000513432:exon30:c.7173-2A>G;ENST00000430049:exon26:c.5009-2A>G;ENST00000511820:exon26:c.5050-2A>G;ENST00000510237:exon27:c.5234-2A>G;ENST00000589993:exon16:c.2077-2A>G)	.	.	0.999480238218538	0.786
18	13096181	A	T	18	13096182	y	y	splicing	CEP192(NM_032142:exon36:c.6434-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4646-2A>T;ENST00000506447:exon36:c.6434-2A>T;ENST00000513432:exon30:c.7173-2A>T;ENST00000430049:exon26:c.5009-2A>T;ENST00000511820:exon26:c.5050-2A>T;ENST00000510237:exon27:c.5234-2A>T;ENST00000589993:exon16:c.2077-2A>T)	.	.	0.999480238218538	0.814
18	13096182	G	A	18	13096183	y	y	splicing	CEP192(NM_032142:exon36:c.6434-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4646-1G>A;ENST00000506447:exon36:c.6434-1G>A;ENST00000513432:exon30:c.7173-1G>A;ENST00000430049:exon26:c.5009-1G>A;ENST00000511820:exon26:c.5050-1G>A;ENST00000510237:exon27:c.5234-1G>A;ENST00000589993:exon16:c.2077-1G>A)	.	.	0.999871892104644	0.832
18	13096182	G	C	18	13096183	y	y	splicing	CEP192(NM_032142:exon36:c.6434-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4646-1G>C;ENST00000506447:exon36:c.6434-1G>C;ENST00000513432:exon30:c.7173-1G>C;ENST00000430049:exon26:c.5009-1G>C;ENST00000511820:exon26:c.5050-1G>C;ENST00000510237:exon27:c.5234-1G>C;ENST00000589993:exon16:c.2077-1G>C)	.	.	0.999871892104644	0.838
18	13096182	G	T	18	13096183	y	y	splicing	CEP192(NM_032142:exon36:c.6434-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4646-1G>T;ENST00000506447:exon36:c.6434-1G>T;ENST00000513432:exon30:c.7173-1G>T;ENST00000430049:exon26:c.5009-1G>T;ENST00000511820:exon26:c.5050-1G>T;ENST00000510237:exon27:c.5234-1G>T;ENST00000589993:exon16:c.2077-1G>T)	.	.	0.999871892104644	0.846
18	13096183	G	A	18	13096184	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.G6434A:p.C2145Y;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.G5234A:p.C1745Y;ENSG00000101639:ENST00000325971:exon34:c.G4646A:p.C1549Y;ENSG00000101639:ENST00000506447:exon36:c.G6434A:p.C2145Y;ENSG00000101639:ENST00000430049:exon26:c.G5009A:p.C1670Y;	0.193155578104358	0.476
18	13096183	G	C	18	13096184	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.G6434C:p.C2145S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.G5234C:p.C1745S;ENSG00000101639:ENST00000325971:exon34:c.G4646C:p.C1549S;ENSG00000101639:ENST00000506447:exon36:c.G6434C:p.C2145S;ENSG00000101639:ENST00000430049:exon26:c.G5009C:p.C1670S;	0.258684435992527	0.502
18	13096183	G	T	18	13096184	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.G6434T:p.C2145F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.G5234T:p.C1745F;ENSG00000101639:ENST00000325971:exon34:c.G4646T:p.C1549F;ENSG00000101639:ENST00000506447:exon36:c.G6434T:p.C2145F;ENSG00000101639:ENST00000430049:exon26:c.G5009T:p.C1670F;	0.738105141423923	0.68
18	13096184	T	A	18	13096185	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon36:c.T6435A:p.C2145X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon27:c.T5235A:p.C1745X;ENSG00000101639:ENST00000325971:exon34:c.T4647A:p.C1549X;ENSG00000101639:ENST00000506447:exon36:c.T6435A:p.C2145X;ENSG00000101639:ENST00000430049:exon26:c.T5010A:p.C1670X;	0.387399882829688	0.48
18	13096184	T	C	18	13096185	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon36:c.T6435C:p.C2145C;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.T5235C:p.C1745C;ENSG00000101639:ENST00000325971:exon34:c.T4647C:p.C1549C;ENSG00000101639:ENST00000506447:exon36:c.T6435C:p.C2145C;ENSG00000101639:ENST00000430049:exon26:c.T5010C:p.C1670C;	0.00187878802509122	0.108
18	13096184	T	G	18	13096185	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.T6435G:p.C2145W;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.T5235G:p.C1745W;ENSG00000101639:ENST00000325971:exon34:c.T4647G:p.C1549W;ENSG00000101639:ENST00000506447:exon36:c.T6435G:p.C2145W;ENSG00000101639:ENST00000430049:exon26:c.T5010G:p.C1670W;	0.0607906375107059	0.118
18	13096304	A	C	18	13096305	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon36:c.A6555C:p.P2185P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.A5355C:p.P1785P;ENSG00000101639:ENST00000325971:exon34:c.A4767C:p.P1589P;ENSG00000101639:ENST00000506447:exon36:c.A6555C:p.P2185P;ENSG00000101639:ENST00000430049:exon26:c.A5130C:p.P1710P;	1.65933380769217E-4	0.0
18	13096304	A	G	18	13096305	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon36:c.A6555G:p.P2185P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.A5355G:p.P1785P;ENSG00000101639:ENST00000325971:exon34:c.A4767G:p.P1589P;ENSG00000101639:ENST00000506447:exon36:c.A6555G:p.P2185P;ENSG00000101639:ENST00000430049:exon26:c.A5130G:p.P1710P;	1.57287436738869E-4	0.002
18	13096304	A	T	18	13096305	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon36:c.A6555T:p.P2185P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.A5355T:p.P1785P;ENSG00000101639:ENST00000325971:exon34:c.A4767T:p.P1589P;ENSG00000101639:ENST00000506447:exon36:c.A6555T:p.P2185P;ENSG00000101639:ENST00000430049:exon26:c.A5130T:p.P1710P;	0.00158843197428768	0.092
18	13096305	G	A	18	13096306	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.G6556A:p.E2186K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.G5356A:p.E1786K;ENSG00000101639:ENST00000325971:exon34:c.G4768A:p.E1590K;ENSG00000101639:ENST00000506447:exon36:c.G6556A:p.E2186K;ENSG00000101639:ENST00000430049:exon26:c.G5131A:p.E1711K;	3.9801535786486E-4	0.074
18	13096305	G	C	18	13096306	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.G6556C:p.E2186Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.G5356C:p.E1786Q;ENSG00000101639:ENST00000325971:exon34:c.G4768C:p.E1590Q;ENSG00000101639:ENST00000506447:exon36:c.G6556C:p.E2186Q;ENSG00000101639:ENST00000430049:exon26:c.G5131C:p.E1711Q;	9.11176307744824E-5	0.0
18	13096305	G	T	18	13096306	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon36:c.G6556T:p.E2186X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon27:c.G5356T:p.E1786X;ENSG00000101639:ENST00000325971:exon34:c.G4768T:p.E1590X;ENSG00000101639:ENST00000506447:exon36:c.G6556T:p.E2186X;ENSG00000101639:ENST00000430049:exon26:c.G5131T:p.E1711X;	0.0354086590218648	0.41
18	13096306	A	C	18	13096307	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.A6557C:p.E2186A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.A5357C:p.E1786A;ENSG00000101639:ENST00000325971:exon34:c.A4769C:p.E1590A;ENSG00000101639:ENST00000506447:exon36:c.A6557C:p.E2186A;ENSG00000101639:ENST00000430049:exon26:c.A5132C:p.E1711A;	0.177152722575515	0.666
18	13096306	A	G	18	13096307	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.A6557G:p.E2186G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.A5357G:p.E1786G;ENSG00000101639:ENST00000325971:exon34:c.A4769G:p.E1590G;ENSG00000101639:ENST00000506447:exon36:c.A6557G:p.E2186G;ENSG00000101639:ENST00000430049:exon26:c.A5132G:p.E1711G;	0.00337647313707042	0.062
18	13096306	A	T	18	13096307	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon36:c.A6557T:p.E2186V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon27:c.A5357T:p.E1786V;ENSG00000101639:ENST00000325971:exon34:c.A4769T:p.E1590V;ENSG00000101639:ENST00000506447:exon36:c.A6557T:p.E2186V;ENSG00000101639:ENST00000430049:exon26:c.A5132T:p.E1711V;	0.339951006637288	0.446
18	13096307	G	A	18	13096308	y	y	splicing	CEP192(NM_032142:exon36:c.6557+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4769+1G>A;ENST00000506447:exon36:c.6557+1G>A;ENST00000513432:exon30:c.7296+1G>A;ENST00000430049:exon26:c.5132+1G>A;ENST00000511820:exon26:c.5173+1G>A;ENST00000510237:exon27:c.5357+1G>A;ENST00000589993:exon16:c.2200+1G>A)	.	.	0.999946188727699	0.948
18	13096307	G	C	18	13096308	y	y	splicing	CEP192(NM_032142:exon36:c.6557+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4769+1G>C;ENST00000506447:exon36:c.6557+1G>C;ENST00000513432:exon30:c.7296+1G>C;ENST00000430049:exon26:c.5132+1G>C;ENST00000511820:exon26:c.5173+1G>C;ENST00000510237:exon27:c.5357+1G>C;ENST00000589993:exon16:c.2200+1G>C)	.	.	0.999964896440643	0.942
18	13096307	G	T	18	13096308	y	y	splicing	CEP192(NM_032142:exon36:c.6557+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4769+1G>T;ENST00000506447:exon36:c.6557+1G>T;ENST00000513432:exon30:c.7296+1G>T;ENST00000430049:exon26:c.5132+1G>T;ENST00000511820:exon26:c.5173+1G>T;ENST00000510237:exon27:c.5357+1G>T;ENST00000589993:exon16:c.2200+1G>T)	.	.	0.999946188727699	0.944
18	13096308	T	A	18	13096309	y	y	splicing	CEP192(NM_032142:exon36:c.6557+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4769+2T>A;ENST00000506447:exon36:c.6557+2T>A;ENST00000513432:exon30:c.7296+2T>A;ENST00000430049:exon26:c.5132+2T>A;ENST00000511820:exon26:c.5173+2T>A;ENST00000510237:exon27:c.5357+2T>A;ENST00000589993:exon16:c.2200+2T>A)	.	.	0.999988510283643	0.936
18	13096308	T	C	18	13096309	y	y	splicing	CEP192(NM_032142:exon36:c.6557+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4769+2T>C;ENST00000506447:exon36:c.6557+2T>C;ENST00000513432:exon30:c.7296+2T>C;ENST00000430049:exon26:c.5132+2T>C;ENST00000511820:exon26:c.5173+2T>C;ENST00000510237:exon27:c.5357+2T>C;ENST00000589993:exon16:c.2200+2T>C)	.	.	0.986285691004685	0.582
18	13096308	T	G	18	13096309	y	y	splicing	CEP192(NM_032142:exon36:c.6557+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon34:c.4769+2T>G;ENST00000506447:exon36:c.6557+2T>G;ENST00000513432:exon30:c.7296+2T>G;ENST00000430049:exon26:c.5132+2T>G;ENST00000511820:exon26:c.5173+2T>G;ENST00000510237:exon27:c.5357+2T>G;ENST00000589993:exon16:c.2200+2T>G)	.	.	0.999988510283643	0.934
18	13096309	A	C	18	13096310	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99899177281499	0.852
18	13096309	A	G	18	13096310	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00260434988820676	0.056
18	13096309	A	T	18	13096310	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997245484041336	0.796
18	13096310	A	C	18	13096311	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.963709298747529	0.578
18	13096310	A	G	18	13096311	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.987599152197221	0.75
18	13096310	A	T	18	13096311	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.973309560995474	0.656
18	13096311	G	A	18	13096312	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999965946354415	0.98
18	13096311	G	C	18	13096312	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999991740285917	0.99
18	13096311	G	T	18	13096312	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999980419098248	0.97
18	13096312	T	A	18	13096313	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.884519300162015	0.56
18	13096312	T	C	18	13096313	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.689083575434204	0.442
18	13096312	T	G	18	13096313	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.95453749550643	0.646
18	13096313	C	A	18	13096314	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.28565290852079E-5	0.0
18	13096313	C	G	18	13096314	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.80209441003219E-5	0.0
18	13096313	C	T	18	13096314	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.28565290852079E-5	0.0
18	13096314	T	A	18	13096315	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.62358547283266E-4	0.0
18	13096314	T	C	18	13096315	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.4821831065696E-5	0.0
18	13096314	T	G	18	13096315	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.12967067026397E-4	0.0
18	13099463	T	A	18	13099464	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.660518371224691	0.386
18	13099463	T	C	18	13099464	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.69392630578684E-4	0.048
18	13099463	T	G	18	13099464	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998976248613972	0.968
18	13099464	T	A	18	13099465	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.906408866261368	0.59
18	13099464	T	C	18	13099465	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0122075952516859	0.274
18	13099464	T	G	18	13099465	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.807341371303389	0.582
18	13099465	T	A	18	13099466	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.852077178809469	0.686
18	13099465	T	C	18	13099466	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.40805140088424E-4	0.07
18	13099465	T	G	18	13099466	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.502952687084579	0.52
18	13099466	T	A	18	13099467	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.263630080193453	0.42
18	13099466	T	C	18	13099467	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.95809631865657E-4	0.048
18	13099466	T	G	18	13099467	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0723149332276858	0.446
18	13099467	T	A	18	13099468	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.010778097478039	0.168
18	13099467	T	C	18	13099468	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.00996635454321E-5	0.0
18	13099467	T	G	18	13099468	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00171905707352455	0.134
18	13099468	T	A	18	13099469	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.932347535584769	0.534
18	13099468	T	C	18	13099469	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.17355575619468E-4	0.062
18	13099468	T	G	18	13099469	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.107990341913899	0.41
18	13099469	T	A	18	13099470	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.719865906157764	0.542
18	13099469	T	C	18	13099470	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.43995061940815E-4	0.004
18	13099469	T	G	18	13099470	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.906699951110095	0.596
18	13099470	T	A	18	13099471	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.348704695629665	0.558
18	13099470	T	C	18	13099471	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0187427145345731	0.084
18	13099470	T	G	18	13099471	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.981298899801543	0.654
18	13099471	A	C	18	13099472	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.47886390969202E-4	0.0
18	13099471	A	G	18	13099472	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.87533980647072E-4	0.064
18	13099471	A	T	18	13099472	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.0774782592493E-5	0.002
18	13099472	A	C	18	13099473	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.42289823141437E-4	0.066
18	13099472	A	G	18	13099473	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.837500175975923	0.51
18	13099472	A	T	18	13099473	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.82922553508717E-4	0.014
18	13099473	A	C	18	13099474	y	y	splicing	CEP192(NM_032142:exon37:c.6558-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4770-2A>C;ENST00000506447:exon37:c.6558-2A>C;ENST00000513432:exon31:c.7297-2A>C;ENST00000430049:exon27:c.5133-2A>C;ENST00000511820:exon27:c.5174-2A>C;ENST00000510237:exon28:c.5358-2A>C;ENST00000589993:exon17:c.2201-2A>C)	.	.	0.999988247793601	0.928
18	13099473	A	G	18	13099474	y	y	splicing	CEP192(NM_032142:exon37:c.6558-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4770-2A>G;ENST00000506447:exon37:c.6558-2A>G;ENST00000513432:exon31:c.7297-2A>G;ENST00000430049:exon27:c.5133-2A>G;ENST00000511820:exon27:c.5174-2A>G;ENST00000510237:exon28:c.5358-2A>G;ENST00000589993:exon17:c.2201-2A>G)	.	.	0.999988247793601	0.928
18	13099473	A	T	18	13099474	y	y	splicing	CEP192(NM_032142:exon37:c.6558-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4770-2A>T;ENST00000506447:exon37:c.6558-2A>T;ENST00000513432:exon31:c.7297-2A>T;ENST00000430049:exon27:c.5133-2A>T;ENST00000511820:exon27:c.5174-2A>T;ENST00000510237:exon28:c.5358-2A>T;ENST00000589993:exon17:c.2201-2A>T)	.	.	0.999988247793601	0.928
18	13099474	G	A	18	13099475	y	y	splicing	CEP192(NM_032142:exon37:c.6558-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4770-1G>A;ENST00000506447:exon37:c.6558-1G>A;ENST00000513432:exon31:c.7297-1G>A;ENST00000430049:exon27:c.5133-1G>A;ENST00000511820:exon27:c.5174-1G>A;ENST00000510237:exon28:c.5358-1G>A;ENST00000589993:exon17:c.2201-1G>A)	.	.	0.999985532734767	0.938
18	13099474	G	C	18	13099475	y	y	splicing	CEP192(NM_032142:exon37:c.6558-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4770-1G>C;ENST00000506447:exon37:c.6558-1G>C;ENST00000513432:exon31:c.7297-1G>C;ENST00000430049:exon27:c.5133-1G>C;ENST00000511820:exon27:c.5174-1G>C;ENST00000510237:exon28:c.5358-1G>C;ENST00000589993:exon17:c.2201-1G>C)	.	.	0.999985532734767	0.938
18	13099474	G	T	18	13099475	y	y	splicing	CEP192(NM_032142:exon37:c.6558-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4770-1G>T;ENST00000506447:exon37:c.6558-1G>T;ENST00000513432:exon31:c.7297-1G>T;ENST00000430049:exon27:c.5133-1G>T;ENST00000511820:exon27:c.5174-1G>T;ENST00000510237:exon28:c.5358-1G>T;ENST00000589993:exon17:c.2201-1G>T)	.	.	0.999985532734767	0.938
18	13099475	G	A	18	13099476	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon37:c.G6558A:p.E2186E;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.G5358A:p.E1786E;ENSG00000101639:ENST00000325971:exon35:c.G4770A:p.E1590E;ENSG00000101639:ENST00000506447:exon37:c.G6558A:p.E2186E;ENSG00000101639:ENST00000430049:exon27:c.G5133A:p.E1711E;	0.915858826823874	0.378
18	13099475	G	C	18	13099476	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.G6558C:p.E2186D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.G5358C:p.E1786D;ENSG00000101639:ENST00000325971:exon35:c.G4770C:p.E1590D;ENSG00000101639:ENST00000506447:exon37:c.G6558C:p.E2186D;ENSG00000101639:ENST00000430049:exon27:c.G5133C:p.E1711D;	0.997786445406879	0.94
18	13099475	G	T	18	13099476	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.G6558T:p.E2186D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.G5358T:p.E1786D;ENSG00000101639:ENST00000325971:exon35:c.G4770T:p.E1590D;ENSG00000101639:ENST00000506447:exon37:c.G6558T:p.E2186D;ENSG00000101639:ENST00000430049:exon27:c.G5133T:p.E1711D;	0.999547122699096	0.96
18	13099476	A	C	18	13099477	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.A6559C:p.S2187R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.A5359C:p.S1787R;ENSG00000101639:ENST00000325971:exon35:c.A4771C:p.S1591R;ENSG00000101639:ENST00000506447:exon37:c.A6559C:p.S2187R;ENSG00000101639:ENST00000430049:exon27:c.A5134C:p.S1712R;	0.837466942322125	0.898
18	13099476	A	G	18	13099477	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.A6559G:p.S2187G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.A5359G:p.S1787G;ENSG00000101639:ENST00000325971:exon35:c.A4771G:p.S1591G;ENSG00000101639:ENST00000506447:exon37:c.A6559G:p.S2187G;ENSG00000101639:ENST00000430049:exon27:c.A5134G:p.S1712G;	0.697893055230997	0.508
18	13099476	A	T	18	13099477	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.A6559T:p.S2187C;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.A5359T:p.S1787C;ENSG00000101639:ENST00000325971:exon35:c.A4771T:p.S1591C;ENSG00000101639:ENST00000506447:exon37:c.A6559T:p.S2187C;ENSG00000101639:ENST00000430049:exon27:c.A5134T:p.S1712C;	0.794152849155331	0.696
18	13099578	A	C	18	13099579	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.A6661C:p.K2221Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.A5461C:p.K1821Q;ENSG00000101639:ENST00000325971:exon35:c.A4873C:p.K1625Q;ENSG00000101639:ENST00000506447:exon37:c.A6661C:p.K2221Q;ENSG00000101639:ENST00000430049:exon27:c.A5236C:p.K1746Q;	0.0557696351494542	0.25
18	13099578	A	G	18	13099579	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.A6661G:p.K2221E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.A5461G:p.K1821E;ENSG00000101639:ENST00000325971:exon35:c.A4873G:p.K1625E;ENSG00000101639:ENST00000506447:exon37:c.A6661G:p.K2221E;ENSG00000101639:ENST00000430049:exon27:c.A5236G:p.K1746E;	0.00539901572529863	0.092
18	13099578	A	T	18	13099579	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon37:c.A6661T:p.K2221X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon28:c.A5461T:p.K1821X;ENSG00000101639:ENST00000325971:exon35:c.A4873T:p.K1625X;ENSG00000101639:ENST00000506447:exon37:c.A6661T:p.K2221X;ENSG00000101639:ENST00000430049:exon27:c.A5236T:p.K1746X;	0.961475475878031	0.784
18	13099579	A	C	18	13099580	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.A6662C:p.K2221T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.A5462C:p.K1821T;ENSG00000101639:ENST00000325971:exon35:c.A4874C:p.K1625T;ENSG00000101639:ENST00000506447:exon37:c.A6662C:p.K2221T;ENSG00000101639:ENST00000430049:exon27:c.A5237C:p.K1746T;	0.999881319389255	0.992
18	13099579	A	G	18	13099580	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.A6662G:p.K2221R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.A5462G:p.K1821R;ENSG00000101639:ENST00000325971:exon35:c.A4874G:p.K1625R;ENSG00000101639:ENST00000506447:exon37:c.A6662G:p.K2221R;ENSG00000101639:ENST00000430049:exon27:c.A5237G:p.K1746R;	0.999959583188391	0.998
18	13099579	A	T	18	13099580	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.A6662T:p.K2221M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.A5462T:p.K1821M;ENSG00000101639:ENST00000325971:exon35:c.A4874T:p.K1625M;ENSG00000101639:ENST00000506447:exon37:c.A6662T:p.K2221M;ENSG00000101639:ENST00000430049:exon27:c.A5237T:p.K1746M;	0.999948570518861	0.998
18	13099580	G	A	18	13099581	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon37:c.G6663A:p.K2221K;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.G5463A:p.K1821K;ENSG00000101639:ENST00000325971:exon35:c.G4875A:p.K1625K;ENSG00000101639:ENST00000506447:exon37:c.G6663A:p.K2221K;ENSG00000101639:ENST00000430049:exon27:c.G5238A:p.K1746K;	0.999983591719742	0.998
18	13099580	G	C	18	13099581	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.G6663C:p.K2221N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.G5463C:p.K1821N;ENSG00000101639:ENST00000325971:exon35:c.G4875C:p.K1625N;ENSG00000101639:ENST00000506447:exon37:c.G6663C:p.K2221N;ENSG00000101639:ENST00000430049:exon27:c.G5238C:p.K1746N;	0.999994574772087	1.0
18	13099580	G	T	18	13099581	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon37:c.G6663T:p.K2221N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon28:c.G5463T:p.K1821N;ENSG00000101639:ENST00000325971:exon35:c.G4875T:p.K1625N;ENSG00000101639:ENST00000506447:exon37:c.G6663T:p.K2221N;ENSG00000101639:ENST00000430049:exon27:c.G5238T:p.K1746N;	0.999992895158708	1.0
18	13099581	G	A	18	13099582	y	y	splicing	CEP192(NM_032142:exon37:c.6663+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4875+1G>A;ENST00000506447:exon37:c.6663+1G>A;ENST00000513432:exon31:c.7402+1G>A;ENST00000430049:exon27:c.5238+1G>A;ENST00000511820:exon27:c.5279+1G>A;ENST00000510237:exon28:c.5463+1G>A;ENST00000589993:exon17:c.2306+1G>A)	.	.	0.999989263107695	0.936
18	13099581	G	C	18	13099582	y	y	splicing	CEP192(NM_032142:exon37:c.6663+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4875+1G>C;ENST00000506447:exon37:c.6663+1G>C;ENST00000513432:exon31:c.7402+1G>C;ENST00000430049:exon27:c.5238+1G>C;ENST00000511820:exon27:c.5279+1G>C;ENST00000510237:exon28:c.5463+1G>C;ENST00000589993:exon17:c.2306+1G>C)	.	.	0.999989263107695	0.936
18	13099581	G	T	18	13099582	y	y	splicing	CEP192(NM_032142:exon37:c.6663+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4875+1G>T;ENST00000506447:exon37:c.6663+1G>T;ENST00000513432:exon31:c.7402+1G>T;ENST00000430049:exon27:c.5238+1G>T;ENST00000511820:exon27:c.5279+1G>T;ENST00000510237:exon28:c.5463+1G>T;ENST00000589993:exon17:c.2306+1G>T)	.	.	0.999989263107695	0.936
18	13099582	T	A	18	13099583	y	y	splicing	CEP192(NM_032142:exon37:c.6663+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4875+2T>A;ENST00000506447:exon37:c.6663+2T>A;ENST00000513432:exon31:c.7402+2T>A;ENST00000430049:exon27:c.5238+2T>A;ENST00000511820:exon27:c.5279+2T>A;ENST00000510237:exon28:c.5463+2T>A;ENST00000589993:exon17:c.2306+2T>A)	.	.	0.999988247793601	0.928
18	13099582	T	C	18	13099583	y	y	splicing	CEP192(NM_032142:exon37:c.6663+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4875+2T>C;ENST00000506447:exon37:c.6663+2T>C;ENST00000513432:exon31:c.7402+2T>C;ENST00000430049:exon27:c.5238+2T>C;ENST00000511820:exon27:c.5279+2T>C;ENST00000510237:exon28:c.5463+2T>C;ENST00000589993:exon17:c.2306+2T>C)	.	.	0.992783534660112	0.678
18	13099582	T	G	18	13099583	y	y	splicing	CEP192(NM_032142:exon37:c.6663+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon35:c.4875+2T>G;ENST00000506447:exon37:c.6663+2T>G;ENST00000513432:exon31:c.7402+2T>G;ENST00000430049:exon27:c.5238+2T>G;ENST00000511820:exon27:c.5279+2T>G;ENST00000510237:exon28:c.5463+2T>G;ENST00000589993:exon17:c.2306+2T>G)	.	.	0.999988247793601	0.928
18	13099583	A	C	18	13099584	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999862554685939	0.908
18	13099583	A	G	18	13099584	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999307343105015	0.968
18	13099583	A	T	18	13099584	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997836758207535	0.882
18	13099584	C	A	18	13099585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.56818191180438E-5	0.034
18	13099584	C	G	18	13099585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.71525914462567E-4	0.044
18	13099584	C	T	18	13099585	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.97697184875718E-4	0.136
18	13099585	T	A	18	13099586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.36042910583054E-4	0.026
18	13099585	T	C	18	13099586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.52966701154897E-5	0.0
18	13099585	T	G	18	13099586	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.25131454888004E-4	0.032
18	13099586	T	A	18	13099587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0422098608589486	0.296
18	13099586	T	C	18	13099587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0892430873834394	0.37
18	13099586	T	G	18	13099587	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0805402267215921	0.28
18	13099587	T	A	18	13099588	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.83292828579382E-4	0.004
18	13099587	T	C	18	13099588	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.90880868608164E-4	0.008
18	13099587	T	G	18	13099588	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.67324244268079E-4	0.016
18	13099588	T	A	18	13099589	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.70611091942298E-5	0.002
18	13099588	T	C	18	13099589	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.24091207594648E-4	0.0
18	13099588	T	G	18	13099589	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.53884982327485E-4	0.148
18	13100292	G	A	18	13100293	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999538155353293	0.96
18	13100292	G	C	18	13100293	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.19636402816346E-4	0.074
18	13100292	G	T	18	13100293	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.19636402816346E-4	0.1
18	13100293	G	A	18	13100294	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.4412410949256E-5	0.0
18	13100293	G	C	18	13100294	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.99563837139783E-5	0.0
18	13100293	G	T	18	13100294	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.50430074651037E-5	0.0
18	13100294	C	A	18	13100295	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.97430554031695E-4	0.05
18	13100294	C	G	18	13100295	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00168849911885486	0.144
18	13100294	C	T	18	13100295	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.190107367003E-5	0.0
18	13100295	T	A	18	13100296	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99448313788001	0.892
18	13100295	T	C	18	13100296	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0361830666053615	0.096
18	13100295	T	G	18	13100296	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.880583233264416	0.842
18	13100296	C	A	18	13100297	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00124926859428194	0.064
18	13100296	C	G	18	13100297	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00161727177812383	0.164
18	13100296	C	T	18	13100297	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.74462251986786E-5	0.002
18	13100297	A	C	18	13100298	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.80316839161634E-5	0.004
18	13100297	A	G	18	13100298	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.54782190019833E-5	0.006
18	13100297	A	T	18	13100298	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.5682671984912E-5	0.004
18	13100298	T	A	18	13100299	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.97635667675648	0.804
18	13100298	T	C	18	13100299	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00616811227717423	0.128
18	13100298	T	G	18	13100299	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999957353147425	0.97
18	13100299	T	A	18	13100300	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999030548632045	0.89
18	13100299	T	C	18	13100300	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.306810268724479	0.322
18	13100299	T	G	18	13100300	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.994590673745994	0.716
18	13100300	T	A	18	13100301	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.55408937313452E-4	0.03
18	13100300	T	C	18	13100301	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.16766156076942E-4	0.026
18	13100300	T	G	18	13100301	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.379062346827E-4	0.126
18	13100301	C	A	18	13100302	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999812960292142	0.892
18	13100301	C	G	18	13100302	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999854273073939	0.944
18	13100301	C	T	18	13100302	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0616266806395147	0.056
18	13100302	A	C	18	13100303	y	y	splicing	CEP192(NM_032142:exon38:c.6664-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.4876-2A>C;ENST00000506447:exon38:c.6664-2A>C;ENST00000513432:exon32:c.7403-2A>C;ENST00000430049:exon28:c.5239-2A>C;ENST00000511820:exon28:c.5280-2A>C;ENST00000510237:exon29:c.5464-2A>C;ENST00000589993:exon18:c.2307-2A>C)	.	.	0.999988247793601	0.946
18	13100302	A	G	18	13100303	y	y	splicing	CEP192(NM_032142:exon38:c.6664-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.4876-2A>G;ENST00000506447:exon38:c.6664-2A>G;ENST00000513432:exon32:c.7403-2A>G;ENST00000430049:exon28:c.5239-2A>G;ENST00000511820:exon28:c.5280-2A>G;ENST00000510237:exon29:c.5464-2A>G;ENST00000589993:exon18:c.2307-2A>G)	.	.	0.999988247793601	0.946
18	13100302	A	T	18	13100303	y	y	splicing	CEP192(NM_032142:exon38:c.6664-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.4876-2A>T;ENST00000506447:exon38:c.6664-2A>T;ENST00000513432:exon32:c.7403-2A>T;ENST00000430049:exon28:c.5239-2A>T;ENST00000511820:exon28:c.5280-2A>T;ENST00000510237:exon29:c.5464-2A>T;ENST00000589993:exon18:c.2307-2A>T)	.	.	0.999988247793601	0.948
18	13100303	G	A	18	13100304	y	y	splicing	CEP192(NM_032142:exon38:c.6664-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.4876-1G>A;ENST00000506447:exon38:c.6664-1G>A;ENST00000513432:exon32:c.7403-1G>A;ENST00000430049:exon28:c.5239-1G>A;ENST00000511820:exon28:c.5280-1G>A;ENST00000510237:exon29:c.5464-1G>A;ENST00000589993:exon18:c.2307-1G>A)	.	.	0.999982737877662	0.942
18	13100303	G	C	18	13100304	y	y	splicing	CEP192(NM_032142:exon38:c.6664-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.4876-1G>C;ENST00000506447:exon38:c.6664-1G>C;ENST00000513432:exon32:c.7403-1G>C;ENST00000430049:exon28:c.5239-1G>C;ENST00000511820:exon28:c.5280-1G>C;ENST00000510237:exon29:c.5464-1G>C;ENST00000589993:exon18:c.2307-1G>C)	.	.	0.99995545544995	0.94
18	13100303	G	T	18	13100304	y	y	splicing	CEP192(NM_032142:exon38:c.6664-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.4876-1G>T;ENST00000506447:exon38:c.6664-1G>T;ENST00000513432:exon32:c.7403-1G>T;ENST00000430049:exon28:c.5239-1G>T;ENST00000511820:exon28:c.5280-1G>T;ENST00000510237:exon29:c.5464-1G>T;ENST00000589993:exon18:c.2307-1G>T)	.	.	0.99995545544995	0.942
18	13100304	A	C	18	13100305	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon38:c.A6664C:p.K2222Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.A5464C:p.K1822Q;ENSG00000101639:ENST00000325971:exon36:c.A4876C:p.K1626Q;ENSG00000101639:ENST00000506447:exon38:c.A6664C:p.K2222Q;ENSG00000101639:ENST00000430049:exon28:c.A5239C:p.K1747Q;	0.936101457002427	0.602
18	13100304	A	G	18	13100305	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon38:c.A6664G:p.K2222E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.A5464G:p.K1822E;ENSG00000101639:ENST00000325971:exon36:c.A4876G:p.K1626E;ENSG00000101639:ENST00000506447:exon38:c.A6664G:p.K2222E;ENSG00000101639:ENST00000430049:exon28:c.A5239G:p.K1747E;	0.755473495641525	0.596
18	13100304	A	T	18	13100305	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon38:c.A6664T:p.K2222X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon29:c.A5464T:p.K1822X;ENSG00000101639:ENST00000325971:exon36:c.A4876T:p.K1626X;ENSG00000101639:ENST00000506447:exon38:c.A6664T:p.K2222X;ENSG00000101639:ENST00000430049:exon28:c.A5239T:p.K1747X;	0.876268340522214	0.626
18	13100305	A	C	18	13100306	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon38:c.A6665C:p.K2222T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.A5465C:p.K1822T;ENSG00000101639:ENST00000325971:exon36:c.A4877C:p.K1626T;ENSG00000101639:ENST00000506447:exon38:c.A6665C:p.K2222T;ENSG00000101639:ENST00000430049:exon28:c.A5240C:p.K1747T;	0.0938607087995101	0.31
18	13100305	A	G	18	13100306	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon38:c.A6665G:p.K2222R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.A5465G:p.K1822R;ENSG00000101639:ENST00000325971:exon36:c.A4877G:p.K1626R;ENSG00000101639:ENST00000506447:exon38:c.A6665G:p.K2222R;ENSG00000101639:ENST00000430049:exon28:c.A5240G:p.K1747R;	0.062845221061807	0.246
18	13100305	A	T	18	13100306	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon38:c.A6665T:p.K2222I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.A5465T:p.K1822I;ENSG00000101639:ENST00000325971:exon36:c.A4877T:p.K1626I;ENSG00000101639:ENST00000506447:exon38:c.A6665T:p.K2222I;ENSG00000101639:ENST00000430049:exon28:c.A5240T:p.K1747I;	0.0187119214707337	0.252
18	13100509	C	A	18	13100510	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon38:c.C6869A:p.S2290X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon29:c.C5669A:p.S1890X;ENSG00000101639:ENST00000325971:exon36:c.C5081A:p.S1694X;ENSG00000101639:ENST00000506447:exon38:c.C6869A:p.S2290X;ENSG00000101639:ENST00000430049:exon28:c.C5444A:p.S1815X;	0.980149160212341	0.802
18	13100509	C	G	18	13100510	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon38:c.C6869G:p.S2290X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon29:c.C5669G:p.S1890X;ENSG00000101639:ENST00000325971:exon36:c.C5081G:p.S1694X;ENSG00000101639:ENST00000506447:exon38:c.C6869G:p.S2290X;ENSG00000101639:ENST00000430049:exon28:c.C5444G:p.S1815X;	0.989579343087129	0.724
18	13100509	C	T	18	13100510	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon38:c.C6869T:p.S2290L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.C5669T:p.S1890L;ENSG00000101639:ENST00000325971:exon36:c.C5081T:p.S1694L;ENSG00000101639:ENST00000506447:exon38:c.C6869T:p.S2290L;ENSG00000101639:ENST00000430049:exon28:c.C5444T:p.S1815L;	0.999898460219772	0.984
18	13100510	A	C	18	13100511	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon38:c.A6870C:p.S2290S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.A5670C:p.S1890S;ENSG00000101639:ENST00000325971:exon36:c.A5082C:p.S1694S;ENSG00000101639:ENST00000506447:exon38:c.A6870C:p.S2290S;ENSG00000101639:ENST00000430049:exon28:c.A5445C:p.S1815S;	0.999176432424514	0.922
18	13100510	A	G	18	13100511	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon38:c.A6870G:p.S2290S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.A5670G:p.S1890S;ENSG00000101639:ENST00000325971:exon36:c.A5082G:p.S1694S;ENSG00000101639:ENST00000506447:exon38:c.A6870G:p.S2290S;ENSG00000101639:ENST00000430049:exon28:c.A5445G:p.S1815S;	0.99883299112162	0.936
18	13100510	A	T	18	13100511	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon38:c.A6870T:p.S2290S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.A5670T:p.S1890S;ENSG00000101639:ENST00000325971:exon36:c.A5082T:p.S1694S;ENSG00000101639:ENST00000506447:exon38:c.A6870T:p.S2290S;ENSG00000101639:ENST00000430049:exon28:c.A5445T:p.S1815S;	0.998610319172683	0.928
18	13100511	G	A	18	13100512	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon38:c.G6871A:p.E2291K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.G5671A:p.E1891K;ENSG00000101639:ENST00000325971:exon36:c.G5083A:p.E1695K;ENSG00000101639:ENST00000506447:exon38:c.G6871A:p.E2291K;ENSG00000101639:ENST00000430049:exon28:c.G5446A:p.E1816K;	0.999995527743761	1.0
18	13100511	G	C	18	13100512	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon38:c.G6871C:p.E2291Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon29:c.G5671C:p.E1891Q;ENSG00000101639:ENST00000325971:exon36:c.G5083C:p.E1695Q;ENSG00000101639:ENST00000506447:exon38:c.G6871C:p.E2291Q;ENSG00000101639:ENST00000430049:exon28:c.G5446C:p.E1816Q;	0.999998296889211	1.0
18	13100511	G	T	18	13100512	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon38:c.G6871T:p.E2291X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon29:c.G5671T:p.E1891X;ENSG00000101639:ENST00000325971:exon36:c.G5083T:p.E1695X;ENSG00000101639:ENST00000506447:exon38:c.G6871T:p.E2291X;ENSG00000101639:ENST00000430049:exon28:c.G5446T:p.E1816X;	0.999995302273097	0.902
18	13100512	G	A	18	13100513	y	y	splicing	CEP192(NM_032142:exon38:c.6871+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.5083+1G>A;ENST00000506447:exon38:c.6871+1G>A;ENST00000513432:exon32:c.7610+1G>A;ENST00000430049:exon28:c.5446+1G>A;ENST00000511820:exon28:c.5487+1G>A;ENST00000510237:exon29:c.5671+1G>A;ENST00000589993:exon18:c.2514+1G>A)	.	.	0.999992425382947	0.944
18	13100512	G	C	18	13100513	y	y	splicing	CEP192(NM_032142:exon38:c.6871+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.5083+1G>C;ENST00000506447:exon38:c.6871+1G>C;ENST00000513432:exon32:c.7610+1G>C;ENST00000430049:exon28:c.5446+1G>C;ENST00000511820:exon28:c.5487+1G>C;ENST00000510237:exon29:c.5671+1G>C;ENST00000589993:exon18:c.2514+1G>C)	.	.	0.999992425382947	0.944
18	13100512	G	T	18	13100513	y	y	splicing	CEP192(NM_032142:exon38:c.6871+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.5083+1G>T;ENST00000506447:exon38:c.6871+1G>T;ENST00000513432:exon32:c.7610+1G>T;ENST00000430049:exon28:c.5446+1G>T;ENST00000511820:exon28:c.5487+1G>T;ENST00000510237:exon29:c.5671+1G>T;ENST00000589993:exon18:c.2514+1G>T)	.	.	0.999992425382947	0.944
18	13100513	T	A	18	13100514	y	y	splicing	CEP192(NM_032142:exon38:c.6871+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.5083+2T>A;ENST00000506447:exon38:c.6871+2T>A;ENST00000513432:exon32:c.7610+2T>A;ENST00000430049:exon28:c.5446+2T>A;ENST00000511820:exon28:c.5487+2T>A;ENST00000510237:exon29:c.5671+2T>A;ENST00000589993:exon18:c.2514+2T>A)	.	.	0.999990764389106	0.936
18	13100513	T	C	18	13100514	y	y	splicing	CEP192(NM_032142:exon38:c.6871+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.5083+2T>C;ENST00000506447:exon38:c.6871+2T>C;ENST00000513432:exon32:c.7610+2T>C;ENST00000430049:exon28:c.5446+2T>C;ENST00000511820:exon28:c.5487+2T>C;ENST00000510237:exon29:c.5671+2T>C;ENST00000589993:exon18:c.2514+2T>C)	.	.	0.993257988692067	0.708
18	13100513	T	G	18	13100514	y	y	splicing	CEP192(NM_032142:exon38:c.6871+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon36:c.5083+2T>G;ENST00000506447:exon38:c.6871+2T>G;ENST00000513432:exon32:c.7610+2T>G;ENST00000430049:exon28:c.5446+2T>G;ENST00000511820:exon28:c.5487+2T>G;ENST00000510237:exon29:c.5671+2T>G;ENST00000589993:exon18:c.2514+2T>G)	.	.	0.999990764389106	0.942
18	13100514	A	C	18	13100515	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999727942473351	0.864
18	13100514	A	G	18	13100515	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.985208451645158	0.738
18	13100514	A	T	18	13100515	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999727942473351	0.904
18	13100515	T	A	18	13100516	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.32292223399194E-5	0.01
18	13100515	T	C	18	13100516	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.73449415394452E-5	0.01
18	13100515	T	G	18	13100516	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.51108614254956E-4	0.024
18	13100516	T	A	18	13100517	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.05425835330873E-4	0.024
18	13100516	T	C	18	13100517	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.37550087429346E-5	0.022
18	13100516	T	G	18	13100517	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.86637067556766E-4	0.084
18	13100517	G	A	18	13100518	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.62096191831107E-4	0.024
18	13100517	G	C	18	13100518	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00115147352867898	0.04
18	13100517	G	T	18	13100518	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.51398570228E-4	0.046
18	13100518	T	A	18	13100519	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00159255292710893	0.104
18	13100518	T	C	18	13100519	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.17014716175703E-4	0.062
18	13100518	T	G	18	13100519	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.96815135200452E-4	0.012
18	13100519	A	C	18	13100520	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.93852035174942E-5	0.0
18	13100519	A	G	18	13100520	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.08666896042621E-4	0.0
18	13100519	A	T	18	13100520	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.84236386695594E-5	0.002
18	13103496	T	A	18	13103497	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999957921205622	0.952
18	13103496	T	C	18	13103497	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00557271223093825	0.08
18	13103496	T	G	18	13103497	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.330962767464084	0.488
18	13103497	G	A	18	13103498	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.03306491369196E-5	0.006
18	13103497	G	C	18	13103498	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.36210352560471E-5	0.004
18	13103497	G	T	18	13103498	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.06566302899275E-5	0.004
18	13103498	T	A	18	13103499	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.271701325595288	0.554
18	13103498	T	C	18	13103499	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.46143733787906E-4	0.014
18	13103498	T	G	18	13103499	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.412683054133659	0.512
18	13103499	T	A	18	13103500	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.254071834642323	0.494
18	13103499	T	C	18	13103500	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.28168117161241E-4	0.014
18	13103499	T	G	18	13103500	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0104371107281371	0.35
18	13103500	C	A	18	13103501	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00230371774032841	0.096
18	13103500	C	G	18	13103501	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.67339138019313E-4	0.076
18	13103500	C	T	18	13103501	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.51325778365806E-4	0.012
18	13103501	C	A	18	13103502	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.0295106721739E-4	0.082
18	13103501	C	G	18	13103502	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.90791956980648E-4	0.106
18	13103501	C	T	18	13103502	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.40964270425715E-5	0.008
18	13103502	T	A	18	13103503	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.890194529174337	0.708
18	13103502	T	C	18	13103503	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00131611389026698	0.024
18	13103502	T	G	18	13103503	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.976022062866973	0.664
18	13103503	T	A	18	13103504	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.995250273533104	0.878
18	13103503	T	C	18	13103504	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0409629984091006	0.192
18	13103503	T	G	18	13103504	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.991988677243979	0.876
18	13103504	T	A	18	13103505	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.38782049433155E-4	0.02
18	13103504	T	C	18	13103505	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.32852609768477E-4	0.006
18	13103504	T	G	18	13103505	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.22188902966361E-4	0.03
18	13103505	T	A	18	13103506	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.593892810952521	0.342
18	13103505	T	C	18	13103506	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.78185771013659E-5	0.006
18	13103505	T	G	18	13103506	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996586016260289	0.74
18	13103506	A	C	18	13103507	y	y	splicing	CEP192(NM_032142:exon39:c.6872-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5084-2A>C;ENST00000506447:exon39:c.6872-2A>C;ENST00000513432:exon33:c.7611-2A>C;ENST00000430049:exon29:c.5447-2A>C;ENST00000511820:exon29:c.5488-2A>C;ENST00000510237:exon30:c.5672-2A>C;ENST00000589993:exon19:c.2515-2A>C)	.	.	0.999946188727699	0.922
18	13103506	A	G	18	13103507	y	y	splicing	CEP192(NM_032142:exon39:c.6872-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5084-2A>G;ENST00000506447:exon39:c.6872-2A>G;ENST00000513432:exon33:c.7611-2A>G;ENST00000430049:exon29:c.5447-2A>G;ENST00000511820:exon29:c.5488-2A>G;ENST00000510237:exon30:c.5672-2A>G;ENST00000589993:exon19:c.2515-2A>G)	.	.	0.999946188727699	0.91
18	13103506	A	T	18	13103507	y	y	splicing	CEP192(NM_032142:exon39:c.6872-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5084-2A>T;ENST00000506447:exon39:c.6872-2A>T;ENST00000513432:exon33:c.7611-2A>T;ENST00000430049:exon29:c.5447-2A>T;ENST00000511820:exon29:c.5488-2A>T;ENST00000510237:exon30:c.5672-2A>T;ENST00000589993:exon19:c.2515-2A>T)	.	.	0.999946188727699	0.944
18	13103507	G	A	18	13103508	y	y	splicing	CEP192(NM_032142:exon39:c.6872-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5084-1G>A;ENST00000506447:exon39:c.6872-1G>A;ENST00000513432:exon33:c.7611-1G>A;ENST00000430049:exon29:c.5447-1G>A;ENST00000511820:exon29:c.5488-1G>A;ENST00000510237:exon30:c.5672-1G>A;ENST00000589993:exon19:c.2515-1G>A)	.	.	0.99995762192389	0.904
18	13103507	G	C	18	13103508	y	y	splicing	CEP192(NM_032142:exon39:c.6872-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5084-1G>C;ENST00000506447:exon39:c.6872-1G>C;ENST00000513432:exon33:c.7611-1G>C;ENST00000430049:exon29:c.5447-1G>C;ENST00000511820:exon29:c.5488-1G>C;ENST00000510237:exon30:c.5672-1G>C;ENST00000589993:exon19:c.2515-1G>C)	.	.	0.99993558696681	0.89
18	13103507	G	T	18	13103508	y	y	splicing	CEP192(NM_032142:exon39:c.6872-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5084-1G>T;ENST00000506447:exon39:c.6872-1G>T;ENST00000513432:exon33:c.7611-1G>T;ENST00000430049:exon29:c.5447-1G>T;ENST00000511820:exon29:c.5488-1G>T;ENST00000510237:exon30:c.5672-1G>T;ENST00000589993:exon19:c.2515-1G>T)	.	.	0.99995762192389	0.904
18	13103508	A	C	18	13103509	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.A6872C:p.E2291A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.A5672C:p.E1891A;ENSG00000101639:ENST00000325971:exon37:c.A5084C:p.E1695A;ENSG00000101639:ENST00000506447:exon39:c.A6872C:p.E2291A;ENSG00000101639:ENST00000430049:exon29:c.A5447C:p.E1816A;	0.00429866374136028	0.1
18	13103508	A	G	18	13103509	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.A6872G:p.E2291G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.A5672G:p.E1891G;ENSG00000101639:ENST00000325971:exon37:c.A5084G:p.E1695G;ENSG00000101639:ENST00000506447:exon39:c.A6872G:p.E2291G;ENSG00000101639:ENST00000430049:exon29:c.A5447G:p.E1816G;	3.17251343446617E-4	0.054
18	13103508	A	T	18	13103509	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.A6872T:p.E2291V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.A5672T:p.E1891V;ENSG00000101639:ENST00000325971:exon37:c.A5084T:p.E1695V;ENSG00000101639:ENST00000506447:exon39:c.A6872T:p.E2291V;ENSG00000101639:ENST00000430049:exon29:c.A5447T:p.E1816V;	0.00391289500299361	0.114
18	13103509	G	A	18	13103510	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon39:c.G6873A:p.E2291E;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.G5673A:p.E1891E;ENSG00000101639:ENST00000325971:exon37:c.G5085A:p.E1695E;ENSG00000101639:ENST00000506447:exon39:c.G6873A:p.E2291E;ENSG00000101639:ENST00000430049:exon29:c.G5448A:p.E1816E;	3.61801614215415E-5	0.004
18	13103509	G	C	18	13103510	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.G6873C:p.E2291D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.G5673C:p.E1891D;ENSG00000101639:ENST00000325971:exon37:c.G5085C:p.E1695D;ENSG00000101639:ENST00000506447:exon39:c.G6873C:p.E2291D;ENSG00000101639:ENST00000430049:exon29:c.G5448C:p.E1816D;	0.00125530467351615	0.042
18	13103509	G	T	18	13103510	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.G6873T:p.E2291D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.G5673T:p.E1891D;ENSG00000101639:ENST00000325971:exon37:c.G5085T:p.E1695D;ENSG00000101639:ENST00000506447:exon39:c.G6873T:p.E2291D;ENSG00000101639:ENST00000430049:exon29:c.G5448T:p.E1816D;	6.13092261489475E-4	0.036
18	13103585	A	C	18	13103586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.A6949C:p.K2317Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.A5749C:p.K1917Q;ENSG00000101639:ENST00000325971:exon37:c.A5161C:p.K1721Q;ENSG00000101639:ENST00000506447:exon39:c.A6949C:p.K2317Q;ENSG00000101639:ENST00000430049:exon29:c.A5524C:p.K1842Q;	0.762201031927959	0.696
18	13103585	A	G	18	13103586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.A6949G:p.K2317E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.A5749G:p.K1917E;ENSG00000101639:ENST00000325971:exon37:c.A5161G:p.K1721E;ENSG00000101639:ENST00000506447:exon39:c.A6949G:p.K2317E;ENSG00000101639:ENST00000430049:exon29:c.A5524G:p.K1842E;	0.376901161904754	0.54
18	13103585	A	T	18	13103586	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon39:c.A6949T:p.K2317X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon30:c.A5749T:p.K1917X;ENSG00000101639:ENST00000325971:exon37:c.A5161T:p.K1721X;ENSG00000101639:ENST00000506447:exon39:c.A6949T:p.K2317X;ENSG00000101639:ENST00000430049:exon29:c.A5524T:p.K1842X;	0.964947587405813	0.73
18	13103586	A	C	18	13103587	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.A6950C:p.K2317T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.A5750C:p.K1917T;ENSG00000101639:ENST00000325971:exon37:c.A5162C:p.K1721T;ENSG00000101639:ENST00000506447:exon39:c.A6950C:p.K2317T;ENSG00000101639:ENST00000430049:exon29:c.A5525C:p.K1842T;	0.996466787495992	0.962
18	13103586	A	G	18	13103587	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.A6950G:p.K2317R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.A5750G:p.K1917R;ENSG00000101639:ENST00000325971:exon37:c.A5162G:p.K1721R;ENSG00000101639:ENST00000506447:exon39:c.A6950G:p.K2317R;ENSG00000101639:ENST00000430049:exon29:c.A5525G:p.K1842R;	0.999897614477899	0.996
18	13103586	A	T	18	13103587	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.A6950T:p.K2317M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.A5750T:p.K1917M;ENSG00000101639:ENST00000325971:exon37:c.A5162T:p.K1721M;ENSG00000101639:ENST00000506447:exon39:c.A6950T:p.K2317M;ENSG00000101639:ENST00000430049:exon29:c.A5525T:p.K1842M;	0.999749858859447	0.98
18	13103587	G	A	18	13103588	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon39:c.G6951A:p.K2317K;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.G5751A:p.K1917K;ENSG00000101639:ENST00000325971:exon37:c.G5163A:p.K1721K;ENSG00000101639:ENST00000506447:exon39:c.G6951A:p.K2317K;ENSG00000101639:ENST00000430049:exon29:c.G5526A:p.K1842K;	0.999968811322086	0.984
18	13103587	G	C	18	13103588	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.G6951C:p.K2317N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.G5751C:p.K1917N;ENSG00000101639:ENST00000325971:exon37:c.G5163C:p.K1721N;ENSG00000101639:ENST00000506447:exon39:c.G6951C:p.K2317N;ENSG00000101639:ENST00000430049:exon29:c.G5526C:p.K1842N;	0.999995735644287	1.0
18	13103587	G	T	18	13103588	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon39:c.G6951T:p.K2317N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon30:c.G5751T:p.K1917N;ENSG00000101639:ENST00000325971:exon37:c.G5163T:p.K1721N;ENSG00000101639:ENST00000506447:exon39:c.G6951T:p.K2317N;ENSG00000101639:ENST00000430049:exon29:c.G5526T:p.K1842N;	0.999990601735239	0.998
18	13103588	G	A	18	13103589	y	y	splicing	CEP192(NM_032142:exon39:c.6951+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5163+1G>A;ENST00000506447:exon39:c.6951+1G>A;ENST00000513432:exon33:c.7690+1G>A;ENST00000430049:exon29:c.5526+1G>A;ENST00000511820:exon29:c.5567+1G>A;ENST00000510237:exon30:c.5751+1G>A;ENST00000589993:exon19:c.2594+1G>A)	.	.	0.999990361384395	0.938
18	13103588	G	C	18	13103589	y	y	splicing	CEP192(NM_032142:exon39:c.6951+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5163+1G>C;ENST00000506447:exon39:c.6951+1G>C;ENST00000513432:exon33:c.7690+1G>C;ENST00000430049:exon29:c.5526+1G>C;ENST00000511820:exon29:c.5567+1G>C;ENST00000510237:exon30:c.5751+1G>C;ENST00000589993:exon19:c.2594+1G>C)	.	.	0.999990361384395	0.938
18	13103588	G	T	18	13103589	y	y	splicing	CEP192(NM_032142:exon39:c.6951+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5163+1G>T;ENST00000506447:exon39:c.6951+1G>T;ENST00000513432:exon33:c.7690+1G>T;ENST00000430049:exon29:c.5526+1G>T;ENST00000511820:exon29:c.5567+1G>T;ENST00000510237:exon30:c.5751+1G>T;ENST00000589993:exon19:c.2594+1G>T)	.	.	0.999990361384395	0.938
18	13103589	T	A	18	13103590	y	y	splicing	CEP192(NM_032142:exon39:c.6951+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5163+2T>A;ENST00000506447:exon39:c.6951+2T>A;ENST00000513432:exon33:c.7690+2T>A;ENST00000430049:exon29:c.5526+2T>A;ENST00000511820:exon29:c.5567+2T>A;ENST00000510237:exon30:c.5751+2T>A;ENST00000589993:exon19:c.2594+2T>A)	.	.	0.999988247793601	0.93
18	13103589	T	C	18	13103590	y	y	splicing	CEP192(NM_032142:exon39:c.6951+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5163+2T>C;ENST00000506447:exon39:c.6951+2T>C;ENST00000513432:exon33:c.7690+2T>C;ENST00000430049:exon29:c.5526+2T>C;ENST00000511820:exon29:c.5567+2T>C;ENST00000510237:exon30:c.5751+2T>C;ENST00000589993:exon19:c.2594+2T>C)	.	.	0.98918007292081	0.688
18	13103589	T	G	18	13103590	y	y	splicing	CEP192(NM_032142:exon39:c.6951+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon37:c.5163+2T>G;ENST00000506447:exon39:c.6951+2T>G;ENST00000513432:exon33:c.7690+2T>G;ENST00000430049:exon29:c.5526+2T>G;ENST00000511820:exon29:c.5567+2T>G;ENST00000510237:exon30:c.5751+2T>G;ENST00000589993:exon19:c.2594+2T>G)	.	.	0.999988247793601	0.93
18	13103590	C	A	18	13103591	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.65655412554563E-4	0.074
18	13103590	C	G	18	13103591	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.50352834235249E-4	0.058
18	13103590	C	T	18	13103591	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.93450880391086E-4	0.012
18	13103591	A	C	18	13103592	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.986212050071123	0.778
18	13103591	A	G	18	13103592	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.837980066286301	0.604
18	13103591	A	T	18	13103592	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.956309928773267	0.76
18	13103592	G	A	18	13103593	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999556439676939	0.976
18	13103592	G	C	18	13103593	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999614847729479	0.708
18	13103592	G	T	18	13103593	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999750226721175	0.922
18	13103593	T	A	18	13103594	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.610599741173099	0.446
18	13103593	T	C	18	13103594	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.32310065071273	0.336
18	13103593	T	G	18	13103594	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.321659984658624	0.474
18	13103594	C	A	18	13103595	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.55591704267905E-5	0.002
18	13103594	C	G	18	13103595	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.80556305223573E-4	0.004
18	13103594	C	T	18	13103595	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.48748912813989E-4	0.004
18	13103595	A	C	18	13103596	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.42283627319033E-4	0.036
18	13103595	A	G	18	13103596	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.81577729002843E-5	0.012
18	13103595	A	T	18	13103596	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.72564010494074E-5	0.01
18	13103862	G	A	18	13103863	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95241758590049E-5	0.0
18	13103862	G	C	18	13103863	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95241758590049E-5	0.0
18	13103862	G	T	18	13103863	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.95241758590049E-5	0.0
18	13103863	T	A	18	13103864	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.59660858139777E-5	0.0
18	13103863	T	C	18	13103864	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.59660858139777E-5	0.0
18	13103863	T	G	18	13103864	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.59660858139777E-5	0.0
18	13103864	T	A	18	13103865	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68219155180855E-5	0.0
18	13103864	T	C	18	13103865	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68219155180855E-5	0.0
18	13103864	T	G	18	13103865	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68219155180855E-5	0.0
18	13103865	T	A	18	13103866	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.43945386107496E-5	0.092
18	13103865	T	C	18	13103866	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.97688076216629E-5	0.086
18	13103865	T	G	18	13103866	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.97688076216629E-5	0.088
18	13103866	T	A	18	13103867	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.04290327727273E-6	0.0
18	13103866	T	C	18	13103867	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.04290327727273E-6	0.0
18	13103866	T	G	18	13103867	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.04290327727273E-6	0.0
18	13103867	T	A	18	13103868	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.26718658278921E-5	0.0
18	13103867	T	C	18	13103868	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.26718658278921E-5	0.0
18	13103867	T	G	18	13103868	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.26718658278921E-5	0.0
18	13103868	T	A	18	13103869	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13103868	T	C	18	13103869	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13103868	T	G	18	13103869	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13103869	T	A	18	13103870	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.45277156108894E-5	0.002
18	13103869	T	C	18	13103870	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.45277156108894E-5	0.0
18	13103869	T	G	18	13103870	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.45277156108894E-5	0.0
18	13103870	G	A	18	13103871	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.42901961887926E-5	0.078
18	13103870	G	C	18	13103871	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.42901961887926E-5	0.078
18	13103870	G	T	18	13103871	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.42901961887926E-5	0.078
18	13103871	T	A	18	13103872	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.19654958573966E-5	0.018
18	13103871	T	C	18	13103872	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.19654958573966E-5	0.014
18	13103871	T	G	18	13103872	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.19654958573966E-5	0.014
18	13103872	A	C	18	13103873	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5752-2A>C)	.	.	9.57123356397867E-5	0.008
18	13103872	A	G	18	13103873	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5752-2A>G)	.	.	9.57123356397867E-5	0.008
18	13103872	A	T	18	13103873	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5752-2A>T)	.	.	9.57123356397867E-5	0.008
18	13103873	G	A	18	13103874	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5752-1G>A)	.	.	2.4631346304159E-5	0.004
18	13103873	G	C	18	13103874	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5752-1G>C)	.	.	2.4631346304159E-5	0.004
18	13103873	G	T	18	13103874	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5752-1G>T)	.	.	2.4631346304159E-5	0.004
18	13103874	A	C	18	13103875	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000510237:exon31:c.A5752C:p.R1918R;	6.19654958573966E-5	0.014
18	13103874	A	G	18	13103875	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon31:c.A5752G:p.R1918G;	2.27163650926202E-4	0.022
18	13103874	A	T	18	13103875	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000510237:exon31:c.A5752T:p.R1918X;	0.0025055396234838	0.394
18	13103875	G	A	18	13103876	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon31:c.G5753A:p.R1918K;	1.99153316237132E-5	0.0
18	13103875	G	C	18	13103876	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon31:c.G5753C:p.R1918T;	1.99153316237132E-5	0.0
18	13103875	G	T	18	13103876	n	y	intronic	CEP192	.	.	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000510237:exon31:c.G5753T:p.R1918I;	1.89861551796331E-5	0.0
18	13103964	C	A	18	13103965	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.7519575763743E-5	0.066
18	13103964	C	G	18	13103965	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	2.42901961887926E-5	0.062
18	13103964	C	T	18	13103965	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	3.7519575763743E-5	0.066
18	13103965	A	C	18	13103966	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.99153316237132E-5	0.002
18	13103965	A	G	18	13103966	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.99153316237132E-5	0.002
18	13103965	A	T	18	13103966	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.99153316237132E-5	0.002
18	13103966	G	A	18	13103967	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.99153316237132E-5	0.002
18	13103966	G	C	18	13103967	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.99153316237132E-5	0.002
18	13103966	G	T	18	13103967	n	y	intronic	CEP192	.	.	UTR3	ENSG00000101639	.	.	1.99153316237132E-5	0.002
18	13103967	G	A	18	13103968	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5844+1G>A)	.	.	1.31266786236939E-4	0.068
18	13103967	G	C	18	13103968	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5844+1G>C)	.	.	1.31266786236939E-4	0.042
18	13103967	G	T	18	13103968	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5844+1G>T)	.	.	1.31266786236939E-4	0.044
18	13103968	T	A	18	13103969	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5844+2T>A)	.	.	1.69884688945688E-4	0.01
18	13103968	T	C	18	13103969	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5844+2T>C)	.	.	2.27163650926202E-4	0.048
18	13103968	T	G	18	13103969	n	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon31:c.5844+2T>G)	.	.	2.27163650926202E-4	0.074
18	13103969	G	A	18	13103970	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.36188765766749E-5	0.008
18	13103969	G	C	18	13103970	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.36188765766749E-5	0.014
18	13103969	G	T	18	13103970	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.36188765766749E-5	0.018
18	13103970	T	A	18	13103971	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.97816655078712E-4	0.046
18	13103970	T	C	18	13103971	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.97816655078712E-4	0.04
18	13103970	T	G	18	13103971	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.97816655078712E-4	0.04
18	13103971	G	A	18	13103972	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13103971	G	C	18	13103972	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13103971	G	T	18	13103972	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.99153316237132E-5	0.0
18	13103972	A	C	18	13103973	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.90177193295887E-6	0.0
18	13103972	A	G	18	13103973	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.90177193295887E-6	0.0
18	13103972	A	T	18	13103973	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.37501361942679E-5	0.0
18	13103973	G	A	18	13103974	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.7519575763743E-5	0.066
18	13103973	G	C	18	13103974	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.42901961887926E-5	0.088
18	13103973	G	T	18	13103974	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.7519575763743E-5	0.062
18	13103974	C	A	18	13103975	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.62850261126439E-6	0.0
18	13103974	C	G	18	13103975	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.62850261126439E-6	0.0
18	13103974	C	T	18	13103975	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.62850261126439E-6	0.004
18	13104971	A	C	18	13104972	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.40752261161417E-5	0.004
18	13104971	A	G	18	13104972	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.35130119178197E-4	0.01
18	13104971	A	T	18	13104972	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.33001188640102E-4	0.026
18	13104972	T	A	18	13104973	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.576306108964641	0.614
18	13104972	T	C	18	13104973	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0243039668796467	0.288
18	13104972	T	G	18	13104973	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999959003432922	0.944
18	13104973	T	A	18	13104974	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999925734616241	0.99
18	13104973	T	C	18	13104974	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00132040984217402	0.188
18	13104973	T	G	18	13104974	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.590358551296817	0.562
18	13104974	G	A	18	13104975	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.28043143612725E-4	0.006
18	13104974	G	C	18	13104975	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.15835509807119E-5	0.004
18	13104974	G	T	18	13104975	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.15835509807119E-5	0.006
18	13104975	C	A	18	13104976	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.9516562952202E-4	0.02
18	13104975	C	G	18	13104976	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.89503142004237E-4	0.01
18	13104975	C	T	18	13104976	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.71872699915799E-5	0.002
18	13104976	T	A	18	13104977	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0122233199115865	0.094
18	13104976	T	C	18	13104977	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.70862489668914E-4	0.014
18	13104976	T	G	18	13104977	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00767789853737271	0.056
18	13104977	T	A	18	13104978	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.305590593859232	0.444
18	13104977	T	C	18	13104978	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00101784851883866	0.054
18	13104977	T	G	18	13104978	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.303049637656044	0.396
18	13104978	T	A	18	13104979	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999943124397192	0.944
18	13104978	T	C	18	13104979	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00164623494008091	0.13
18	13104978	T	G	18	13104979	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.472234942234297	0.364
18	13104979	G	A	18	13104980	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.91353308997387E-5	0.006
18	13104979	G	C	18	13104980	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.31416138277668E-4	0.014
18	13104979	G	T	18	13104980	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.95704745395394E-5	0.004
18	13104980	C	A	18	13104981	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.805589570583711	0.554
18	13104980	C	G	18	13104981	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999719236122979	0.918
18	13104980	C	T	18	13104981	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00102900903171703	0.086
18	13104981	A	C	18	13104982	y	y	splicing	CEP192(NM_032142:exon40:c.6952-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5164-2A>C;ENST00000506447:exon40:c.6952-2A>C;ENST00000513432:exon34:c.7691-2A>C;ENST00000430049:exon30:c.5527-2A>C;ENST00000511820:exon30:c.5568-2A>C;ENST00000510237:exon32:c.5845-2A>C;ENST00000589993:exon20:c.2595-2A>C)	.	.	0.999994907583848	0.938
18	13104981	A	G	18	13104982	y	y	splicing	CEP192(NM_032142:exon40:c.6952-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5164-2A>G;ENST00000506447:exon40:c.6952-2A>G;ENST00000513432:exon34:c.7691-2A>G;ENST00000430049:exon30:c.5527-2A>G;ENST00000511820:exon30:c.5568-2A>G;ENST00000510237:exon32:c.5845-2A>G;ENST00000589993:exon20:c.2595-2A>G)	.	.	0.999994907583848	0.938
18	13104981	A	T	18	13104982	y	y	splicing	CEP192(NM_032142:exon40:c.6952-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5164-2A>T;ENST00000506447:exon40:c.6952-2A>T;ENST00000513432:exon34:c.7691-2A>T;ENST00000430049:exon30:c.5527-2A>T;ENST00000511820:exon30:c.5568-2A>T;ENST00000510237:exon32:c.5845-2A>T;ENST00000589993:exon20:c.2595-2A>T)	.	.	0.999994907583848	0.938
18	13104982	G	A	18	13104983	y	y	splicing	CEP192(NM_032142:exon40:c.6952-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5164-1G>A;ENST00000506447:exon40:c.6952-1G>A;ENST00000513432:exon34:c.7691-1G>A;ENST00000430049:exon30:c.5527-1G>A;ENST00000511820:exon30:c.5568-1G>A;ENST00000510237:exon32:c.5845-1G>A;ENST00000589993:exon20:c.2595-1G>A)	.	.	0.999990764389106	0.934
18	13104982	G	C	18	13104983	y	y	splicing	CEP192(NM_032142:exon40:c.6952-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5164-1G>C;ENST00000506447:exon40:c.6952-1G>C;ENST00000513432:exon34:c.7691-1G>C;ENST00000430049:exon30:c.5527-1G>C;ENST00000511820:exon30:c.5568-1G>C;ENST00000510237:exon32:c.5845-1G>C;ENST00000589993:exon20:c.2595-1G>C)	.	.	0.999990764389106	0.934
18	13104982	G	T	18	13104983	y	y	splicing	CEP192(NM_032142:exon40:c.6952-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5164-1G>T;ENST00000506447:exon40:c.6952-1G>T;ENST00000513432:exon34:c.7691-1G>T;ENST00000430049:exon30:c.5527-1G>T;ENST00000511820:exon30:c.5568-1G>T;ENST00000510237:exon32:c.5845-1G>T;ENST00000589993:exon20:c.2595-1G>T)	.	.	0.999990764389106	0.934
18	13104983	G	A	18	13104984	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.G6952A:p.G2318R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.G5164A:p.G1722R;ENSG00000101639:ENST00000506447:exon40:c.G6952A:p.G2318R;ENSG00000101639:ENST00000430049:exon30:c.G5527A:p.G1843R;	0.998878441092264	0.808
18	13104983	G	C	18	13104984	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.G6952C:p.G2318R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.G5164C:p.G1722R;ENSG00000101639:ENST00000506447:exon40:c.G6952C:p.G2318R;ENSG00000101639:ENST00000430049:exon30:c.G5527C:p.G1843R;	0.999560233672854	0.89
18	13104983	G	T	18	13104984	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon40:c.G6952T:p.G2318X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000325971:exon38:c.G5164T:p.G1722X;ENSG00000101639:ENST00000506447:exon40:c.G6952T:p.G2318X;ENSG00000101639:ENST00000430049:exon30:c.G5527T:p.G1843X;	0.999613140509532	0.958
18	13104984	G	A	18	13104985	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.G6953A:p.G2318E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.G5165A:p.G1722E;ENSG00000101639:ENST00000506447:exon40:c.G6953A:p.G2318E;ENSG00000101639:ENST00000430049:exon30:c.G5528A:p.G1843E;	0.040449271395239	0.204
18	13104984	G	C	18	13104985	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.G6953C:p.G2318A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.G5165C:p.G1722A;ENSG00000101639:ENST00000506447:exon40:c.G6953C:p.G2318A;ENSG00000101639:ENST00000430049:exon30:c.G5528C:p.G1843A;	0.00143330146304273	0.046
18	13104984	G	T	18	13104985	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.G6953T:p.G2318V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.G5165T:p.G1722V;ENSG00000101639:ENST00000506447:exon40:c.G6953T:p.G2318V;ENSG00000101639:ENST00000430049:exon30:c.G5528T:p.G1843V;	0.0339059255193317	0.246
18	13105076	A	C	18	13105077	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.A7045C:p.K2349Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.A5257C:p.K1753Q;ENSG00000101639:ENST00000506447:exon40:c.A7045C:p.K2349Q;ENSG00000101639:ENST00000430049:exon30:c.A5620C:p.K1874Q;	0.00319239452759296	0.042
18	13105076	A	G	18	13105077	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.A7045G:p.K2349E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.A5257G:p.K1753E;ENSG00000101639:ENST00000506447:exon40:c.A7045G:p.K2349E;ENSG00000101639:ENST00000430049:exon30:c.A5620G:p.K1874E;	0.0165838387894166	0.274
18	13105076	A	T	18	13105077	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon40:c.A7045T:p.K2349X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000325971:exon38:c.A5257T:p.K1753X;ENSG00000101639:ENST00000506447:exon40:c.A7045T:p.K2349X;ENSG00000101639:ENST00000430049:exon30:c.A5620T:p.K1874X;	0.928984452211453	0.752
18	13105077	A	C	18	13105078	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.A7046C:p.K2349T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.A5258C:p.K1753T;ENSG00000101639:ENST00000506447:exon40:c.A7046C:p.K2349T;ENSG00000101639:ENST00000430049:exon30:c.A5621C:p.K1874T;	0.999700324141553	0.974
18	13105077	A	G	18	13105078	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.A7046G:p.K2349R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.A5258G:p.K1753R;ENSG00000101639:ENST00000506447:exon40:c.A7046G:p.K2349R;ENSG00000101639:ENST00000430049:exon30:c.A5621G:p.K1874R;	0.996880779305054	0.934
18	13105077	A	T	18	13105078	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.A7046T:p.K2349I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.A5258T:p.K1753I;ENSG00000101639:ENST00000506447:exon40:c.A7046T:p.K2349I;ENSG00000101639:ENST00000430049:exon30:c.A5621T:p.K1874I;	0.999869291096066	0.996
18	13105078	A	C	18	13105079	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.A7047C:p.K2349N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.A5259C:p.K1753N;ENSG00000101639:ENST00000506447:exon40:c.A7047C:p.K2349N;ENSG00000101639:ENST00000430049:exon30:c.A5622C:p.K1874N;	0.0166510447207559	0.112
18	13105078	A	G	18	13105079	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon40:c.A7047G:p.K2349K;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.A5259G:p.K1753K;ENSG00000101639:ENST00000506447:exon40:c.A7047G:p.K2349K;ENSG00000101639:ENST00000430049:exon30:c.A5622G:p.K1874K;	3.35629459540322E-4	0.212
18	13105078	A	T	18	13105079	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon40:c.A7047T:p.K2349N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon38:c.A5259T:p.K1753N;ENSG00000101639:ENST00000506447:exon40:c.A7047T:p.K2349N;ENSG00000101639:ENST00000430049:exon30:c.A5622T:p.K1874N;	0.030639201971436	0.212
18	13105079	G	A	18	13105080	y	y	splicing	CEP192(NM_032142:exon40:c.7047+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5259+1G>A;ENST00000506447:exon40:c.7047+1G>A;ENST00000513432:exon34:c.7786+1G>A;ENST00000430049:exon30:c.5622+1G>A;ENST00000511820:exon30:c.5663+1G>A;ENST00000510237:exon32:c.5940+1G>A;ENST00000589993:exon20:c.2690+1G>A)	.	.	0.999980516178445	0.864
18	13105079	G	C	18	13105080	y	y	splicing	CEP192(NM_032142:exon40:c.7047+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5259+1G>C;ENST00000506447:exon40:c.7047+1G>C;ENST00000513432:exon34:c.7786+1G>C;ENST00000430049:exon30:c.5622+1G>C;ENST00000511820:exon30:c.5663+1G>C;ENST00000510237:exon32:c.5940+1G>C;ENST00000589993:exon20:c.2690+1G>C)	.	.	0.999980516178445	0.82
18	13105079	G	T	18	13105080	y	y	splicing	CEP192(NM_032142:exon40:c.7047+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5259+1G>T;ENST00000506447:exon40:c.7047+1G>T;ENST00000513432:exon34:c.7786+1G>T;ENST00000430049:exon30:c.5622+1G>T;ENST00000511820:exon30:c.5663+1G>T;ENST00000510237:exon32:c.5940+1G>T;ENST00000589993:exon20:c.2690+1G>T)	.	.	0.999980516178445	0.822
18	13105080	T	A	18	13105081	y	y	splicing	CEP192(NM_032142:exon40:c.7047+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5259+2T>A;ENST00000506447:exon40:c.7047+2T>A;ENST00000513432:exon34:c.7786+2T>A;ENST00000430049:exon30:c.5622+2T>A;ENST00000511820:exon30:c.5663+2T>A;ENST00000510237:exon32:c.5940+2T>A;ENST00000589993:exon20:c.2690+2T>A)	.	.	0.999980516178445	0.85
18	13105080	T	C	18	13105081	y	y	splicing	CEP192(NM_032142:exon40:c.7047+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5259+2T>C;ENST00000506447:exon40:c.7047+2T>C;ENST00000513432:exon34:c.7786+2T>C;ENST00000430049:exon30:c.5622+2T>C;ENST00000511820:exon30:c.5663+2T>C;ENST00000510237:exon32:c.5940+2T>C;ENST00000589993:exon20:c.2690+2T>C)	.	.	0.92617617394246	0.542
18	13105080	T	G	18	13105081	y	y	splicing	CEP192(NM_032142:exon40:c.7047+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon38:c.5259+2T>G;ENST00000506447:exon40:c.7047+2T>G;ENST00000513432:exon34:c.7786+2T>G;ENST00000430049:exon30:c.5622+2T>G;ENST00000511820:exon30:c.5663+2T>G;ENST00000510237:exon32:c.5940+2T>G;ENST00000589993:exon20:c.2690+2T>G)	.	.	0.999980516178445	0.814
18	13105081	A	C	18	13105082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999938603152632	0.936
18	13105081	A	G	18	13105082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.881486965589338	0.598
18	13105081	A	T	18	13105082	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998602001777511	0.894
18	13105082	G	A	18	13105083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00180176964735963	0.37
18	13105082	G	C	18	13105083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.17875858951249E-4	0.086
18	13105082	G	T	18	13105083	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.89511679894995E-4	0.048
18	13105083	G	A	18	13105084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999921639259219	0.934
18	13105083	G	C	18	13105084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999966944356293	0.946
18	13105083	G	T	18	13105084	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999976974804183	0.948
18	13105084	T	A	18	13105085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.744487844784406	0.512
18	13105084	T	C	18	13105085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.371405629733152	0.316
18	13105084	T	G	18	13105085	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.90662578039881	0.656
18	13105085	T	A	18	13105086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.6181372455822E-5	0.004
18	13105085	T	C	18	13105086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.48670585174126E-5	0.01
18	13105085	T	G	18	13105086	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.82609714508316E-5	0.002
18	13105086	T	A	18	13105087	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.97684360426495E-4	0.024
18	13105086	T	C	18	13105087	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.03750511267591E-5	0.002
18	13105086	T	G	18	13105087	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.97684360426495E-4	0.018
18	13113573	T	A	18	13113574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999950030194377	0.982
18	13113573	T	C	18	13113574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.8706751958999E-4	0.088
18	13113573	T	G	18	13113574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999931767461098	0.98
18	13113574	G	A	18	13113575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.25233145468862E-4	0.02
18	13113574	G	C	18	13113575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.96943818928243E-5	0.002
18	13113574	G	T	18	13113575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.15606741361528E-5	0.018
18	13113575	T	A	18	13113576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.145612069059264	0.416
18	13113575	T	C	18	13113576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00137618037964523	0.098
18	13113575	T	G	18	13113576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.567291845553603	0.49
18	13113576	A	C	18	13113577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.15289420264783E-5	0.0
18	13113576	A	G	18	13113577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.45372904663443E-5	0.0
18	13113576	A	T	18	13113577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.32948691627956E-5	0.004
18	13113577	T	A	18	13113578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0188377502061448	0.088
18	13113577	T	C	18	13113578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.05942629481762E-4	0.002
18	13113577	T	G	18	13113578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999812067907578	0.994
18	13113578	T	A	18	13113579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0184887672760365	0.034
18	13113578	T	C	18	13113579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.76676793515912E-5	0.008
18	13113578	T	G	18	13113579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0286496131640795	0.048
18	13113579	T	A	18	13113580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.159350435553838	0.36
18	13113579	T	C	18	13113580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.47566025047282E-5	0.048
18	13113579	T	G	18	13113580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0880127179397614	0.386
18	13113580	C	A	18	13113581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998291044662203	0.954
18	13113580	C	G	18	13113581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00377729476617364	0.052
18	13113580	C	T	18	13113581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.30718947637959E-5	0.0
18	13113581	G	A	18	13113582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.41540476560884E-4	0.002
18	13113581	G	C	18	13113582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.16139187178168E-4	0.002
18	13113581	G	T	18	13113582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.41540476560884E-4	0.006
18	13113582	T	A	18	13113583	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0329052897615434	0.156
18	13113582	T	C	18	13113583	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.34971902924564E-4	0.002
18	13113582	T	G	18	13113583	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999653350348813	0.868
18	13113583	A	C	18	13113584	y	y	splicing	CEP192(NM_032142:exon41:c.7048-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5260-2A>C;ENST00000506447:exon41:c.7048-2A>C;ENST00000513432:exon35:c.7787-2A>C;ENST00000430049:exon31:c.5623-2A>C;ENST00000511820:exon31:c.5664-2A>C)	.	.	0.999988247793601	0.924
18	13113583	A	G	18	13113584	y	y	splicing	CEP192(NM_032142:exon41:c.7048-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5260-2A>G;ENST00000506447:exon41:c.7048-2A>G;ENST00000513432:exon35:c.7787-2A>G;ENST00000430049:exon31:c.5623-2A>G;ENST00000511820:exon31:c.5664-2A>G)	.	.	0.999988247793601	0.924
18	13113583	A	T	18	13113584	y	y	splicing	CEP192(NM_032142:exon41:c.7048-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5260-2A>T;ENST00000506447:exon41:c.7048-2A>T;ENST00000513432:exon35:c.7787-2A>T;ENST00000430049:exon31:c.5623-2A>T;ENST00000511820:exon31:c.5664-2A>T)	.	.	0.999988247793601	0.926
18	13113584	G	A	18	13113585	y	y	splicing	CEP192(NM_032142:exon41:c.7048-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5260-1G>A;ENST00000506447:exon41:c.7048-1G>A;ENST00000513432:exon35:c.7787-1G>A;ENST00000430049:exon31:c.5623-1G>A;ENST00000511820:exon31:c.5664-1G>A)	.	.	0.999986675681007	0.932
18	13113584	G	C	18	13113585	y	y	splicing	CEP192(NM_032142:exon41:c.7048-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5260-1G>C;ENST00000506447:exon41:c.7048-1G>C;ENST00000513432:exon35:c.7787-1G>C;ENST00000430049:exon31:c.5623-1G>C;ENST00000511820:exon31:c.5664-1G>C)	.	.	0.999986675681007	0.932
18	13113584	G	T	18	13113585	y	y	splicing	CEP192(NM_032142:exon41:c.7048-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5260-1G>T;ENST00000506447:exon41:c.7048-1G>T;ENST00000513432:exon35:c.7787-1G>T;ENST00000430049:exon31:c.5623-1G>T;ENST00000511820:exon31:c.5664-1G>T)	.	.	0.999986675681007	0.932
18	13113585	G	A	18	13113586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.G7048A:p.V2350I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.G5260A:p.V1754I;ENSG00000101639:ENST00000506447:exon41:c.G7048A:p.V2350I;ENSG00000101639:ENST00000430049:exon31:c.G5623A:p.V1875I;	0.747243956078497	0.496
18	13113585	G	C	18	13113586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.G7048C:p.V2350L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.G5260C:p.V1754L;ENSG00000101639:ENST00000506447:exon41:c.G7048C:p.V2350L;ENSG00000101639:ENST00000430049:exon31:c.G5623C:p.V1875L;	0.991393365681903	0.912
18	13113585	G	T	18	13113586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.G7048T:p.V2350F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.G5260T:p.V1754F;ENSG00000101639:ENST00000506447:exon41:c.G7048T:p.V2350F;ENSG00000101639:ENST00000430049:exon31:c.G5623T:p.V1875F;	0.998240376024383	0.938
18	13113586	T	A	18	13113587	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.T7049A:p.V2350D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.T5261A:p.V1754D;ENSG00000101639:ENST00000506447:exon41:c.T7049A:p.V2350D;ENSG00000101639:ENST00000430049:exon31:c.T5624A:p.V1875D;	0.578299793553079	0.344
18	13113586	T	C	18	13113587	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.T7049C:p.V2350A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.T5261C:p.V1754A;ENSG00000101639:ENST00000506447:exon41:c.T7049C:p.V2350A;ENSG00000101639:ENST00000430049:exon31:c.T5624C:p.V1875A;	0.328204551508991	0.44
18	13113586	T	G	18	13113587	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.T7049G:p.V2350G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.T5261G:p.V1754G;ENSG00000101639:ENST00000506447:exon41:c.T7049G:p.V2350G;ENSG00000101639:ENST00000430049:exon31:c.T5624G:p.V1875G;	0.431664007010038	0.348
18	13113702	C	A	18	13113703	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.C7165A:p.Q2389K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.C5377A:p.Q1793K;ENSG00000101639:ENST00000506447:exon41:c.C7165A:p.Q2389K;ENSG00000101639:ENST00000430049:exon31:c.C5740A:p.Q1914K;	1.48445216664581E-4	0.044
18	13113702	C	G	18	13113703	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.C7165G:p.Q2389E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.C5377G:p.Q1793E;ENSG00000101639:ENST00000506447:exon41:c.C7165G:p.Q2389E;ENSG00000101639:ENST00000430049:exon31:c.C5740G:p.Q1914E;	3.75929303924286E-5	0.034
18	13113702	C	T	18	13113703	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon41:c.C7165T:p.Q2389X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000325971:exon39:c.C5377T:p.Q1793X;ENSG00000101639:ENST00000506447:exon41:c.C7165T:p.Q2389X;ENSG00000101639:ENST00000430049:exon31:c.C5740T:p.Q1914X;	0.940619550514141	0.83
18	13113703	A	C	18	13113704	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.A7166C:p.Q2389P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.A5378C:p.Q1793P;ENSG00000101639:ENST00000506447:exon41:c.A7166C:p.Q2389P;ENSG00000101639:ENST00000430049:exon31:c.A5741C:p.Q1914P;	0.242732083546617	0.582
18	13113703	A	G	18	13113704	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.A7166G:p.Q2389R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.A5378G:p.Q1793R;ENSG00000101639:ENST00000506447:exon41:c.A7166G:p.Q2389R;ENSG00000101639:ENST00000430049:exon31:c.A5741G:p.Q1914R;	0.20684120645324	0.482
18	13113703	A	T	18	13113704	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.A7166T:p.Q2389L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.A5378T:p.Q1793L;ENSG00000101639:ENST00000506447:exon41:c.A7166T:p.Q2389L;ENSG00000101639:ENST00000430049:exon31:c.A5741T:p.Q1914L;	0.141828181311035	0.658
18	13113704	A	C	18	13113705	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.A7167C:p.Q2389H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.A5379C:p.Q1793H;ENSG00000101639:ENST00000506447:exon41:c.A7167C:p.Q2389H;ENSG00000101639:ENST00000430049:exon31:c.A5742C:p.Q1914H;	2.50054640852806E-5	0.0
18	13113704	A	G	18	13113705	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon41:c.A7167G:p.Q2389Q;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.A5379G:p.Q1793Q;ENSG00000101639:ENST00000506447:exon41:c.A7167G:p.Q2389Q;ENSG00000101639:ENST00000430049:exon31:c.A5742G:p.Q1914Q;	6.63894416217045E-5	0.128
18	13113704	A	T	18	13113705	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon41:c.A7167T:p.Q2389H;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon39:c.A5379T:p.Q1793H;ENSG00000101639:ENST00000506447:exon41:c.A7167T:p.Q2389H;ENSG00000101639:ENST00000430049:exon31:c.A5742T:p.Q1914H;	7.16292492587185E-5	0.01
18	13113705	G	A	18	13113706	y	y	splicing	CEP192(NM_032142:exon41:c.7167+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5379+1G>A;ENST00000506447:exon41:c.7167+1G>A;ENST00000513432:exon35:c.7906+1G>A;ENST00000430049:exon31:c.5742+1G>A;ENST00000511820:exon31:c.5783+1G>A)	.	.	0.999946188727699	0.922
18	13113705	G	C	18	13113706	y	y	splicing	CEP192(NM_032142:exon41:c.7167+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5379+1G>C;ENST00000506447:exon41:c.7167+1G>C;ENST00000513432:exon35:c.7906+1G>C;ENST00000430049:exon31:c.5742+1G>C;ENST00000511820:exon31:c.5783+1G>C)	.	.	0.999964896440643	0.944
18	13113705	G	T	18	13113706	y	y	splicing	CEP192(NM_032142:exon41:c.7167+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5379+1G>T;ENST00000506447:exon41:c.7167+1G>T;ENST00000513432:exon35:c.7906+1G>T;ENST00000430049:exon31:c.5742+1G>T;ENST00000511820:exon31:c.5783+1G>T)	.	.	0.999946188727699	0.946
18	13113706	T	A	18	13113707	y	y	splicing	CEP192(NM_032142:exon41:c.7167+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5379+2T>A;ENST00000506447:exon41:c.7167+2T>A;ENST00000513432:exon35:c.7906+2T>A;ENST00000430049:exon31:c.5742+2T>A;ENST00000511820:exon31:c.5783+2T>A)	.	.	0.9999784785434	0.926
18	13113706	T	C	18	13113707	y	y	splicing	CEP192(NM_032142:exon41:c.7167+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5379+2T>C;ENST00000506447:exon41:c.7167+2T>C;ENST00000513432:exon35:c.7906+2T>C;ENST00000430049:exon31:c.5742+2T>C;ENST00000511820:exon31:c.5783+2T>C)	.	.	0.99994719742404	0.892
18	13113706	T	G	18	13113707	y	y	splicing	CEP192(NM_032142:exon41:c.7167+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon39:c.5379+2T>G;ENST00000506447:exon41:c.7167+2T>G;ENST00000513432:exon35:c.7906+2T>G;ENST00000430049:exon31:c.5742+2T>G;ENST00000511820:exon31:c.5783+2T>G)	.	.	0.999988510283643	0.936
18	13113707	G	A	18	13113708	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.85524672582159E-5	0.0
18	13113707	G	C	18	13113708	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.995244436534337	0.754
18	13113707	G	T	18	13113708	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.969519056409533	0.68
18	13113708	A	C	18	13113709	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.429147110136296	0.548
18	13113708	A	G	18	13113709	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.595021164680132	0.592
18	13113708	A	T	18	13113709	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.676189006710156	0.608
18	13113709	G	A	18	13113710	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999862434499205	0.926
18	13113709	G	C	18	13113710	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999986128097871	0.968
18	13113709	G	T	18	13113710	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999981107978217	0.968
18	13113710	T	A	18	13113711	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.936853173650657	0.698
18	13113710	T	C	18	13113711	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.933670428166966	0.612
18	13113710	T	G	18	13113711	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.481431837454162	0.61
18	13113711	A	C	18	13113712	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.60610257070665E-5	0.002
18	13113711	A	G	18	13113712	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.59481182508671E-4	0.048
18	13113711	A	T	18	13113712	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.001249479105155	0.072
18	13113712	G	A	18	13113713	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.81281988739147E-5	0.028
18	13113712	G	C	18	13113713	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.85907537402326E-5	0.002
18	13113712	G	T	18	13113713	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.85907537402326E-5	0.002
18	13114117	T	A	18	13114118	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.660903830049537	0.536
18	13114117	T	C	18	13114118	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00110274717295738	0.044
18	13114117	T	G	18	13114118	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.487384626271087	0.516
18	13114118	T	A	18	13114119	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.758718248222567	0.462
18	13114118	T	C	18	13114119	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00260665866277409	0.052
18	13114118	T	G	18	13114119	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.231529545760892	0.416
18	13114119	T	A	18	13114120	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0497891013918624	0.328
18	13114119	T	C	18	13114120	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.98004141392198E-4	0.014
18	13114119	T	G	18	13114120	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.140520210105311	0.366
18	13114120	T	A	18	13114121	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.13899513188511	0.274
18	13114120	T	C	18	13114121	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.61872950412774E-4	0.04
18	13114120	T	G	18	13114121	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.191184804692486	0.292
18	13114121	C	A	18	13114122	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.93850457857505E-4	0.094
18	13114121	C	G	18	13114122	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.65476182739551E-5	0.07
18	13114121	C	T	18	13114122	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.5913968725071E-5	0.008
18	13114122	T	A	18	13114123	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.992405535980761	0.954
18	13114122	T	C	18	13114123	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.43261133615432E-5	0.0
18	13114122	T	G	18	13114123	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00335637912430538	0.054
18	13114123	G	A	18	13114124	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.27473269562516E-5	0.002
18	13114123	G	C	18	13114124	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.41874634074856E-5	0.0
18	13114123	G	T	18	13114124	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.16738266513237E-5	0.0
18	13114124	T	A	18	13114125	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0434120125501254	0.476
18	13114124	T	C	18	13114125	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.52907487693985E-5	0.044
18	13114124	T	G	18	13114125	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0578284422594028	0.462
18	13114125	A	C	18	13114126	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.08419780015269E-5	0.012
18	13114125	A	G	18	13114126	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.32960565902045E-4	0.116
18	13114125	A	T	18	13114126	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.21375321457706E-5	0.008
18	13114126	T	A	18	13114127	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.012519489738136	0.28
18	13114126	T	C	18	13114127	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.28192828220138E-5	0.002
18	13114126	T	G	18	13114127	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.941338565390909	0.682
18	13114127	A	C	18	13114128	y	y	splicing	CEP192(NM_032142:exon42:c.7168-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5380-2A>C;ENST00000506447:exon42:c.7168-2A>C;ENST00000513432:exon36:c.7907-2A>C;ENST00000430049:exon32:c.5743-2A>C;ENST00000511820:exon32:c.5784-2A>C)	.	.	0.9999784785434	0.938
18	13114127	A	G	18	13114128	y	y	splicing	CEP192(NM_032142:exon42:c.7168-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5380-2A>G;ENST00000506447:exon42:c.7168-2A>G;ENST00000513432:exon36:c.7907-2A>G;ENST00000430049:exon32:c.5743-2A>G;ENST00000511820:exon32:c.5784-2A>G)	.	.	0.9999784785434	0.938
18	13114127	A	T	18	13114128	y	y	splicing	CEP192(NM_032142:exon42:c.7168-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5380-2A>T;ENST00000506447:exon42:c.7168-2A>T;ENST00000513432:exon36:c.7907-2A>T;ENST00000430049:exon32:c.5743-2A>T;ENST00000511820:exon32:c.5784-2A>T)	.	.	0.9999784785434	0.944
18	13114128	G	A	18	13114129	y	y	splicing	CEP192(NM_032142:exon42:c.7168-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5380-1G>A;ENST00000506447:exon42:c.7168-1G>A;ENST00000513432:exon36:c.7907-1G>A;ENST00000430049:exon32:c.5743-1G>A;ENST00000511820:exon32:c.5784-1G>A)	.	.	0.999903621866699	0.852
18	13114128	G	C	18	13114129	y	y	splicing	CEP192(NM_032142:exon42:c.7168-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5380-1G>C;ENST00000506447:exon42:c.7168-1G>C;ENST00000513432:exon36:c.7907-1G>C;ENST00000430049:exon32:c.5743-1G>C;ENST00000511820:exon32:c.5784-1G>C)	.	.	0.999893588078984	0.866
18	13114128	G	T	18	13114129	y	y	splicing	CEP192(NM_032142:exon42:c.7168-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5380-1G>T;ENST00000506447:exon42:c.7168-1G>T;ENST00000513432:exon36:c.7907-1G>T;ENST00000430049:exon32:c.5743-1G>T;ENST00000511820:exon32:c.5784-1G>T)	.	.	0.999903621866699	0.87
18	13114129	A	C	18	13114130	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.A7168C:p.S2390R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.A5380C:p.S1794R;ENSG00000101639:ENST00000506447:exon42:c.A7168C:p.S2390R;ENSG00000101639:ENST00000430049:exon32:c.A5743C:p.S1915R;	0.0739839029155462	0.444
18	13114129	A	G	18	13114130	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.A7168G:p.S2390G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.A5380G:p.S1794G;ENSG00000101639:ENST00000506447:exon42:c.A7168G:p.S2390G;ENSG00000101639:ENST00000430049:exon32:c.A5743G:p.S1915G;	0.00162239788691621	0.054
18	13114129	A	T	18	13114130	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.A7168T:p.S2390C;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.A5380T:p.S1794C;ENSG00000101639:ENST00000506447:exon42:c.A7168T:p.S2390C;ENSG00000101639:ENST00000430049:exon32:c.A5743T:p.S1915C;	0.00288278281275904	0.046
18	13114130	G	A	18	13114131	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.G7169A:p.S2390N;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.G5381A:p.S1794N;ENSG00000101639:ENST00000506447:exon42:c.G7169A:p.S2390N;ENSG00000101639:ENST00000430049:exon32:c.G5744A:p.S1915N;	0.933890690161846	0.678
18	13114130	G	C	18	13114131	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.G7169C:p.S2390T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.G5381C:p.S1794T;ENSG00000101639:ENST00000506447:exon42:c.G7169C:p.S2390T;ENSG00000101639:ENST00000430049:exon32:c.G5744C:p.S1915T;	0.00961209101012965	0.13
18	13114130	G	T	18	13114131	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.G7169T:p.S2390I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.G5381T:p.S1794I;ENSG00000101639:ENST00000506447:exon42:c.G7169T:p.S2390I;ENSG00000101639:ENST00000430049:exon32:c.G5744T:p.S1915I;	0.947053761715152	0.682
18	13114248	T	A	18	13114249	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon42:c.T7287A:p.P2429P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.T5499A:p.P1833P;ENSG00000101639:ENST00000506447:exon42:c.T7287A:p.P2429P;ENSG00000101639:ENST00000430049:exon32:c.T5862A:p.P1954P;	0.00174161160318864	0.022
18	13114248	T	C	18	13114249	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon42:c.T7287C:p.P2429P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.T5499C:p.P1833P;ENSG00000101639:ENST00000506447:exon42:c.T7287C:p.P2429P;ENSG00000101639:ENST00000430049:exon32:c.T5862C:p.P1954P;	0.00163316315737468	0.072
18	13114248	T	G	18	13114249	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon42:c.T7287G:p.P2429P;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.T5499G:p.P1833P;ENSG00000101639:ENST00000506447:exon42:c.T7287G:p.P2429P;ENSG00000101639:ENST00000430049:exon32:c.T5862G:p.P1954P;	5.50464984375686E-4	0.086
18	13114249	G	A	18	13114250	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.G7288A:p.E2430K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.G5500A:p.E1834K;ENSG00000101639:ENST00000506447:exon42:c.G7288A:p.E2430K;ENSG00000101639:ENST00000430049:exon32:c.G5863A:p.E1955K;	6.16500624417458E-4	0.112
18	13114249	G	C	18	13114250	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.G7288C:p.E2430Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.G5500C:p.E1834Q;ENSG00000101639:ENST00000506447:exon42:c.G7288C:p.E2430Q;ENSG00000101639:ENST00000430049:exon32:c.G5863C:p.E1955Q;	1.29611392115749E-4	0.038
18	13114249	G	T	18	13114250	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon42:c.G7288T:p.E2430X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000325971:exon40:c.G5500T:p.E1834X;ENSG00000101639:ENST00000506447:exon42:c.G7288T:p.E2430X;ENSG00000101639:ENST00000430049:exon32:c.G5863T:p.E1955X;	0.544799013499669	0.624
18	13114250	A	C	18	13114251	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.A7289C:p.E2430A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.A5501C:p.E1834A;ENSG00000101639:ENST00000506447:exon42:c.A7289C:p.E2430A;ENSG00000101639:ENST00000430049:exon32:c.A5864C:p.E1955A;	4.7009890204281E-4	0.05
18	13114250	A	G	18	13114251	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.A7289G:p.E2430G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.A5501G:p.E1834G;ENSG00000101639:ENST00000506447:exon42:c.A7289G:p.E2430G;ENSG00000101639:ENST00000430049:exon32:c.A5864G:p.E1955G;	0.00310396403013054	0.07
18	13114250	A	T	18	13114251	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon42:c.A7289T:p.E2430V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon40:c.A5501T:p.E1834V;ENSG00000101639:ENST00000506447:exon42:c.A7289T:p.E2430V;ENSG00000101639:ENST00000430049:exon32:c.A5864T:p.E1955V;	0.00849690000027819	0.222
18	13114251	G	A	18	13114252	y	y	splicing	CEP192(NM_032142:exon42:c.7289+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5501+1G>A;ENST00000506447:exon42:c.7289+1G>A;ENST00000513432:exon36:c.8028+1G>A;ENST00000430049:exon32:c.5864+1G>A;ENST00000511820:exon32:c.5905+1G>A)	.	.	0.999988658194408	0.936
18	13114251	G	C	18	13114252	y	y	splicing	CEP192(NM_032142:exon42:c.7289+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5501+1G>C;ENST00000506447:exon42:c.7289+1G>C;ENST00000513432:exon36:c.8028+1G>C;ENST00000430049:exon32:c.5864+1G>C;ENST00000511820:exon32:c.5905+1G>C)	.	.	0.999988658194408	0.936
18	13114251	G	T	18	13114252	y	y	splicing	CEP192(NM_032142:exon42:c.7289+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5501+1G>T;ENST00000506447:exon42:c.7289+1G>T;ENST00000513432:exon36:c.8028+1G>T;ENST00000430049:exon32:c.5864+1G>T;ENST00000511820:exon32:c.5905+1G>T)	.	.	0.999988658194408	0.936
18	13114252	T	A	18	13114253	y	y	splicing	CEP192(NM_032142:exon42:c.7289+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5501+2T>A;ENST00000506447:exon42:c.7289+2T>A;ENST00000513432:exon36:c.8028+2T>A;ENST00000430049:exon32:c.5864+2T>A;ENST00000511820:exon32:c.5905+2T>A)	.	.	0.99998295793754	0.882
18	13114252	T	C	18	13114253	y	y	splicing	CEP192(NM_032142:exon42:c.7289+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5501+2T>C;ENST00000506447:exon42:c.7289+2T>C;ENST00000513432:exon36:c.8028+2T>C;ENST00000430049:exon32:c.5864+2T>C;ENST00000511820:exon32:c.5905+2T>C)	.	.	0.975569588713789	0.748
18	13114252	T	G	18	13114253	y	y	splicing	CEP192(NM_032142:exon42:c.7289+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon40:c.5501+2T>G;ENST00000506447:exon42:c.7289+2T>G;ENST00000513432:exon36:c.8028+2T>G;ENST00000430049:exon32:c.5864+2T>G;ENST00000511820:exon32:c.5905+2T>G)	.	.	0.99998295793754	0.882
18	13114253	A	C	18	13114254	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999964902082211	0.834
18	13114253	A	G	18	13114254	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99772817321652	0.808
18	13114253	A	T	18	13114254	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999984792515244	0.842
18	13114254	T	A	18	13114255	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00124717091823118	0.08
18	13114254	T	C	18	13114255	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.29978810943809E-4	0.212
18	13114254	T	G	18	13114255	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.55887371587073E-4	0.036
18	13114255	G	A	18	13114256	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.99996221677939	0.988
18	13114255	G	C	18	13114256	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999930028265707	0.998
18	13114255	G	T	18	13114256	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999930028265707	0.974
18	13114256	T	A	18	13114257	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.990051472555173	0.718
18	13114256	T	C	18	13114257	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.856390886616755	0.694
18	13114256	T	G	18	13114257	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.984292069382676	0.702
18	13114257	T	A	18	13114258	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.81905827746698E-5	0.024
18	13114257	T	C	18	13114258	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.94131064570217E-5	0.026
18	13114257	T	G	18	13114258	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.94131064570217E-5	0.008
18	13114258	G	A	18	13114259	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.05702723528906E-4	0.008
18	13114258	G	C	18	13114259	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.17055884322466E-5	0.014
18	13114258	G	T	18	13114259	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.1286370843494E-5	0.0
18	13116361	C	A	18	13116362	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00339269655377469	.
18	13116361	C	G	18	13116362	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00485918946197216	.
18	13116361	C	T	18	13116362	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.77811949482372E-4	.
18	13116362	T	A	18	13116363	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00516274741351573	.
18	13116362	T	C	18	13116363	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.02890333982246E-5	.
18	13116362	T	G	18	13116363	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.49451393634554E-4	.
18	13116363	A	C	18	13116364	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.38212268727783E-5	.
18	13116363	A	G	18	13116364	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.04790831537528E-5	.
18	13116363	A	T	18	13116364	n	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.38212268727783E-5	.
18	13116364	T	A	18	13116365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.644378585034538	.
18	13116364	T	C	18	13116365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.59818465773811E-4	.
18	13116364	T	G	18	13116365	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.98521854534641	.
18	13116365	T	A	18	13116366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.579740341166384	.
18	13116365	T	C	18	13116366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.65137372643304E-4	.
18	13116365	T	G	18	13116366	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.558221551888069	.
18	13116366	C	A	18	13116367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.399263645054968	.
18	13116366	C	G	18	13116367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.731417644401847	.
18	13116366	C	T	18	13116367	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.56130139414819E-5	.
18	13116367	C	A	18	13116368	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.954162227555054	.
18	13116367	C	G	18	13116368	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.910527664717798	.
18	13116367	C	T	18	13116368	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.12352232739608E-4	.
18	13116368	C	A	18	13116369	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.183093142548847	.
18	13116368	C	G	18	13116369	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.676431071358614	.
18	13116368	C	T	18	13116369	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.15306935584214E-5	.
18	13116369	A	C	18	13116370	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.00684534904205E-5	.
18	13116369	A	G	18	13116370	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.98794213852389E-5	.
18	13116369	A	T	18	13116370	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.00684534904205E-5	.
18	13116370	A	C	18	13116371	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.00319679587649E-5	.
18	13116370	A	G	18	13116371	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0810114403719324	.
18	13116370	A	T	18	13116371	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.18450124829936E-5	.
18	13116371	A	C	18	13116372	y	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon33:c.5941-2A>C;ENST00000589993:exon21:c.2691-2A>C)	.	.	0.00354184371578198	.
18	13116371	A	G	18	13116372	y	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon33:c.5941-2A>G;ENST00000589993:exon21:c.2691-2A>G)	.	.	0.0620887205532066	.
18	13116371	A	T	18	13116372	y	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon33:c.5941-2A>T;ENST00000589993:exon21:c.2691-2A>T)	.	.	0.00266954995047049	.
18	13116372	G	A	18	13116373	y	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon33:c.5941-1G>A;ENST00000589993:exon21:c.2691-1G>A)	.	.	0.00495226889002975	.
18	13116372	G	C	18	13116373	y	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon33:c.5941-1G>C;ENST00000589993:exon21:c.2691-1G>C)	.	.	0.00128454160391698	.
18	13116372	G	T	18	13116373	y	y	intronic	CEP192	.	.	splicing	ENSG00000101639(ENST00000510237:exon33:c.5941-1G>T;ENST00000589993:exon21:c.2691-1G>T)	.	.	0.00295252521205255	.
18	13116373	C	A	18	13116374	y	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	0.999722387856665	.
18	13116373	C	G	18	13116374	y	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	0.999945501338825	.
18	13116373	C	T	18	13116374	y	y	intronic	CEP192	.	.	exonic	ENSG00000101639	unknown	UNKNOWN	0.424268598486854	.
18	13116374	A	C	18	13116375	y	y	splicing	CEP192(NM_032142:exon43:c.7290-2A>C)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon41:c.5502-2A>C;ENST00000506447:exon43:c.7290-2A>C;ENST00000513432:exon37:c.8029-2A>C;ENST00000430049:exon33:c.5865-2A>C;ENST00000511820:exon33:c.5906-2A>C)	unknown	UNKNOWN	0.999938378134281	.
18	13116374	A	G	18	13116375	y	y	splicing	CEP192(NM_032142:exon43:c.7290-2A>G)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon41:c.5502-2A>G;ENST00000506447:exon43:c.7290-2A>G;ENST00000513432:exon37:c.8029-2A>G;ENST00000430049:exon33:c.5865-2A>G;ENST00000511820:exon33:c.5906-2A>G)	unknown	UNKNOWN	0.999938378134281	.
18	13116374	A	T	18	13116375	y	y	splicing	CEP192(NM_032142:exon43:c.7290-2A>T)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon41:c.5502-2A>T;ENST00000506447:exon43:c.7290-2A>T;ENST00000513432:exon37:c.8029-2A>T;ENST00000430049:exon33:c.5865-2A>T;ENST00000511820:exon33:c.5906-2A>T)	unknown	UNKNOWN	0.999938378134281	.
18	13116375	G	A	18	13116376	y	n	splicing	CEP192(NM_032142:exon43:c.7290-1G>A)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon41:c.5502-1G>A;ENST00000506447:exon43:c.7290-1G>A;ENST00000513432:exon37:c.8029-1G>A;ENST00000430049:exon33:c.5865-1G>A;ENST00000511820:exon33:c.5906-1G>A)	unknown	UNKNOWN	0.999845932756245	.
18	13116375	G	C	18	13116376	y	n	splicing	CEP192(NM_032142:exon43:c.7290-1G>C)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon41:c.5502-1G>C;ENST00000506447:exon43:c.7290-1G>C;ENST00000513432:exon37:c.8029-1G>C;ENST00000430049:exon33:c.5865-1G>C;ENST00000511820:exon33:c.5906-1G>C)	unknown	UNKNOWN	0.999845932756245	.
18	13116375	G	T	18	13116376	y	n	splicing	CEP192(NM_032142:exon43:c.7290-1G>T)	.	.	exonic;splicing	ENSG00000101639;ENSG00000101639(ENST00000325971:exon41:c.5502-1G>T;ENST00000506447:exon43:c.7290-1G>T;ENST00000513432:exon37:c.8029-1G>T;ENST00000430049:exon33:c.5865-1G>T;ENST00000511820:exon33:c.5906-1G>T)	unknown	UNKNOWN	0.999845932756245	.
18	13116376	G	A	18	13116377	y	n	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon43:c.G7290A:p.E2430E;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.G5502A:p.E1834E;ENSG00000101639:ENST00000506447:exon43:c.G7290A:p.E2430E;ENSG00000101639:ENST00000430049:exon33:c.G5865A:p.E1955E;	0.00423577087099647	.
18	13116376	G	C	18	13116377	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon43:c.G7290C:p.E2430D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.G5502C:p.E1834D;ENSG00000101639:ENST00000506447:exon43:c.G7290C:p.E2430D;ENSG00000101639:ENST00000430049:exon33:c.G5865C:p.E1955D;	0.0544859301746619	.
18	13116376	G	T	18	13116377	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon43:c.G7290T:p.E2430D;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.G5502T:p.E1834D;ENSG00000101639:ENST00000506447:exon43:c.G7290T:p.E2430D;ENSG00000101639:ENST00000430049:exon33:c.G5865T:p.E1955D;	0.272756327985724	.
18	13116377	C	A	18	13116378	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon43:c.C7291A:p.Q2431K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.C5503A:p.Q1835K;ENSG00000101639:ENST00000506447:exon43:c.C7291A:p.Q2431K;ENSG00000101639:ENST00000430049:exon33:c.C5866A:p.Q1956K;	0.00499983638997466	.
18	13116377	C	G	18	13116378	y	n	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon43:c.C7291G:p.Q2431E;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.C5503G:p.Q1835E;ENSG00000101639:ENST00000506447:exon43:c.C7291G:p.Q2431E;ENSG00000101639:ENST00000430049:exon33:c.C5866G:p.Q1956E;	0.00152073208821567	.
18	13116377	C	T	18	13116378	y	n	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon43:c.C7291T:p.Q2431X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000325971:exon41:c.C5503T:p.Q1835X;ENSG00000101639:ENST00000506447:exon43:c.C7291T:p.Q2431X;ENSG00000101639:ENST00000430049:exon33:c.C5866T:p.Q1956X;	0.840005694041712	.
18	13116500	T	A	18	13116501	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon43:c.T7414A:p.S2472T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.T5626A:p.S1876T;ENSG00000101639:ENST00000506447:exon43:c.T7414A:p.S2472T;ENSG00000101639:ENST00000430049:exon33:c.T5989A:p.S1997T;	5.28539489600143E-5	0.0
18	13116500	T	C	18	13116501	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon43:c.T7414C:p.S2472P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.T5626C:p.S1876P;ENSG00000101639:ENST00000506447:exon43:c.T7414C:p.S2472P;ENSG00000101639:ENST00000430049:exon33:c.T5989C:p.S1997P;	5.62734492941588E-5	0.0
18	13116500	T	G	18	13116501	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon43:c.T7414G:p.S2472A;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.T5626G:p.S1876A;ENSG00000101639:ENST00000506447:exon43:c.T7414G:p.S2472A;ENSG00000101639:ENST00000430049:exon33:c.T5989G:p.S1997A;	7.35292296153275E-5	0.012
18	13116501	C	A	18	13116502	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon43:c.C7415A:p.S2472X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000325971:exon41:c.C5627A:p.S1876X;ENSG00000101639:ENST00000506447:exon43:c.C7415A:p.S2472X;ENSG00000101639:ENST00000430049:exon33:c.C5990A:p.S1997X;	0.00232819602174224	0.48
18	13116501	C	G	18	13116502	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon43:c.C7415G:p.S2472X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000325971:exon41:c.C5627G:p.S1876X;ENSG00000101639:ENST00000506447:exon43:c.C7415G:p.S2472X;ENSG00000101639:ENST00000430049:exon33:c.C5990G:p.S1997X;	0.00213896478868441	0.416
18	13116501	C	T	18	13116502	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon43:c.C7415T:p.S2472L;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.C5627T:p.S1876L;ENSG00000101639:ENST00000506447:exon43:c.C7415T:p.S2472L;ENSG00000101639:ENST00000430049:exon33:c.C5990T:p.S1997L;	3.64018154548839E-4	0.034
18	13116502	A	C	18	13116503	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon43:c.A7416C:p.S2472S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.A5628C:p.S1876S;ENSG00000101639:ENST00000506447:exon43:c.A7416C:p.S2472S;ENSG00000101639:ENST00000430049:exon33:c.A5991C:p.S1997S;	1.8331131219167E-4	0.012
18	13116502	A	G	18	13116503	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon43:c.A7416G:p.S2472S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.A5628G:p.S1876S;ENSG00000101639:ENST00000506447:exon43:c.A7416G:p.S2472S;ENSG00000101639:ENST00000430049:exon33:c.A5991G:p.S1997S;	5.36527852114982E-5	0.03
18	13116502	A	T	18	13116503	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon43:c.A7416T:p.S2472S;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon41:c.A5628T:p.S1876S;ENSG00000101639:ENST00000506447:exon43:c.A7416T:p.S2472S;ENSG00000101639:ENST00000430049:exon33:c.A5991T:p.S1997S;	2.33933018744289E-4	0.034
18	13116503	G	A	18	13116504	y	y	splicing	CEP192(NM_032142:exon43:c.7416+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon41:c.5628+1G>A;ENST00000506447:exon43:c.7416+1G>A;ENST00000513432:exon37:c.8155+1G>A;ENST00000430049:exon33:c.5991+1G>A;ENST00000511820:exon33:c.6032+1G>A;ENST00000510237:exon33:c.6070+1G>A;ENST00000589993:exon21:c.2820+1G>A)	.	.	0.999946736994107	0.942
18	13116503	G	C	18	13116504	y	y	splicing	CEP192(NM_032142:exon43:c.7416+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon41:c.5628+1G>C;ENST00000506447:exon43:c.7416+1G>C;ENST00000513432:exon37:c.8155+1G>C;ENST00000430049:exon33:c.5991+1G>C;ENST00000511820:exon33:c.6032+1G>C;ENST00000510237:exon33:c.6070+1G>C;ENST00000589993:exon21:c.2820+1G>C)	.	.	0.999946736994107	0.938
18	13116503	G	T	18	13116504	y	y	splicing	CEP192(NM_032142:exon43:c.7416+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon41:c.5628+1G>T;ENST00000506447:exon43:c.7416+1G>T;ENST00000513432:exon37:c.8155+1G>T;ENST00000430049:exon33:c.5991+1G>T;ENST00000511820:exon33:c.6032+1G>T;ENST00000510237:exon33:c.6070+1G>T;ENST00000589993:exon21:c.2820+1G>T)	.	.	0.999946736994107	0.93
18	13116504	T	A	18	13116505	y	y	splicing	CEP192(NM_032142:exon43:c.7416+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon41:c.5628+2T>A;ENST00000506447:exon43:c.7416+2T>A;ENST00000513432:exon37:c.8155+2T>A;ENST00000430049:exon33:c.5991+2T>A;ENST00000511820:exon33:c.6032+2T>A;ENST00000510237:exon33:c.6070+2T>A;ENST00000589993:exon21:c.2820+2T>A)	.	.	0.999978278263889	0.926
18	13116504	T	C	18	13116505	y	y	splicing	CEP192(NM_032142:exon43:c.7416+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon41:c.5628+2T>C;ENST00000506447:exon43:c.7416+2T>C;ENST00000513432:exon37:c.8155+2T>C;ENST00000430049:exon33:c.5991+2T>C;ENST00000511820:exon33:c.6032+2T>C;ENST00000510237:exon33:c.6070+2T>C;ENST00000589993:exon21:c.2820+2T>C)	.	.	0.999057704379452	0.818
18	13116504	T	G	18	13116505	y	y	splicing	CEP192(NM_032142:exon43:c.7416+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon41:c.5628+2T>G;ENST00000506447:exon43:c.7416+2T>G;ENST00000513432:exon37:c.8155+2T>G;ENST00000430049:exon33:c.5991+2T>G;ENST00000511820:exon33:c.6032+2T>G;ENST00000510237:exon33:c.6070+2T>G;ENST00000589993:exon21:c.2820+2T>G)	.	.	0.999978278263889	0.938
18	13116505	A	C	18	13116506	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999799336903409	0.936
18	13116505	A	G	18	13116506	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0233282902045425	0.212
18	13116505	A	T	18	13116506	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999822996805168	0.93
18	13116506	A	C	18	13116507	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.915082598868507	0.688
18	13116506	A	G	18	13116507	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.935484983031696	0.764
18	13116506	A	T	18	13116507	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.913038713859463	0.73
18	13116507	G	A	18	13116508	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999973878318977	0.962
18	13116507	G	C	18	13116508	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999968527792527	0.966
18	13116507	G	T	18	13116508	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999963588920602	0.982
18	13116508	T	A	18	13116509	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.919226297960504	0.668
18	13116508	T	C	18	13116509	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.928272297731646	0.776
18	13116508	T	G	18	13116509	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.923259836073028	0.756
18	13116509	T	A	18	13116510	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.3334665125837E-4	0.004
18	13116509	T	C	18	13116510	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.49022095386935E-4	0.004
18	13116509	T	G	18	13116510	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.98098823666899E-4	0.004
18	13116510	G	A	18	13116511	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.37619690882338E-4	0.016
18	13116510	G	C	18	13116511	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00460077730518419	0.016
18	13116510	G	T	18	13116511	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00460077730518419	0.018
18	13117572	A	C	18	13117573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.27219349862041E-5	0.0
18	13117572	A	G	18	13117573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.61823523802295E-6	0.014
18	13117572	A	T	18	13117573	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.20175216104126E-5	0.002
18	13117573	T	A	18	13117574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.449053098403028	0.66
18	13117573	T	C	18	13117574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0326247506168483	0.292
18	13117573	T	G	18	13117574	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999850961549517	0.954
18	13117574	T	A	18	13117575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996820458439285	0.868
18	13117574	T	C	18	13117575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.128424126755786	0.36
18	13117574	T	G	18	13117575	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.993976912648303	0.838
18	13117575	A	C	18	13117576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.20104279179528E-4	0.108
18	13117575	A	G	18	13117576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00260201346656347	0.158
18	13117575	A	T	18	13117576	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.18557608720125E-5	0.134
18	13117576	A	C	18	13117577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.66962914459506E-4	0.034
18	13117576	A	G	18	13117577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998704306179133	0.926
18	13117576	A	T	18	13117577	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.24004437551853E-4	0.012
18	13117577	A	C	18	13117578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.27080380287944E-4	0.026
18	13117577	A	G	18	13117578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998853939762655	0.954
18	13117577	A	T	18	13117578	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.27080380287944E-4	0.028
18	13117578	T	A	18	13117579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.968377541853723	0.808
18	13117578	T	C	18	13117579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00275661027993266	0.118
18	13117578	T	G	18	13117579	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999955914893662	0.96
18	13117579	T	A	18	13117580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998032117575517	0.906
18	13117579	T	C	18	13117580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.113980035011718	0.324
18	13117579	T	G	18	13117580	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.996140784394451	0.88
18	13117580	C	A	18	13117581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.96434755026948E-5	0.096
18	13117580	C	G	18	13117581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.84172493764359E-4	0.086
18	13117580	C	T	18	13117581	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.96434755026948E-5	0.048
18	13117581	C	A	18	13117582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.997458321705177	0.874
18	13117581	C	G	18	13117582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.998612308292711	0.892
18	13117581	C	T	18	13117582	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.209585851559714	0.254
18	13117582	A	C	18	13117583	y	y	splicing	CEP192(NM_032142:exon44:c.7417-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5629-2A>C;ENST00000506447:exon44:c.7417-2A>C;ENST00000513432:exon38:c.8156-2A>C;ENST00000430049:exon34:c.5992-2A>C;ENST00000511820:exon34:c.6033-2A>C;ENST00000510237:exon34:c.6071-2A>C;ENST00000589993:exon22:c.2821-2A>C)	.	.	0.999982322733069	0.912
18	13117582	A	G	18	13117583	y	y	splicing	CEP192(NM_032142:exon44:c.7417-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5629-2A>G;ENST00000506447:exon44:c.7417-2A>G;ENST00000513432:exon38:c.8156-2A>G;ENST00000430049:exon34:c.5992-2A>G;ENST00000511820:exon34:c.6033-2A>G;ENST00000510237:exon34:c.6071-2A>G;ENST00000589993:exon22:c.2821-2A>G)	.	.	0.999982322733069	0.912
18	13117582	A	T	18	13117583	y	y	splicing	CEP192(NM_032142:exon44:c.7417-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5629-2A>T;ENST00000506447:exon44:c.7417-2A>T;ENST00000513432:exon38:c.8156-2A>T;ENST00000430049:exon34:c.5992-2A>T;ENST00000511820:exon34:c.6033-2A>T;ENST00000510237:exon34:c.6071-2A>T;ENST00000589993:exon22:c.2821-2A>T)	.	.	0.999982322733069	0.914
18	13117583	G	A	18	13117584	y	y	splicing	CEP192(NM_032142:exon44:c.7417-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5629-1G>A;ENST00000506447:exon44:c.7417-1G>A;ENST00000513432:exon38:c.8156-1G>A;ENST00000430049:exon34:c.5992-1G>A;ENST00000511820:exon34:c.6033-1G>A;ENST00000510237:exon34:c.6071-1G>A;ENST00000589993:exon22:c.2821-1G>A)	.	.	0.999968021563937	0.914
18	13117583	G	C	18	13117584	y	y	splicing	CEP192(NM_032142:exon44:c.7417-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5629-1G>C;ENST00000506447:exon44:c.7417-1G>C;ENST00000513432:exon38:c.8156-1G>C;ENST00000430049:exon34:c.5992-1G>C;ENST00000511820:exon34:c.6033-1G>C;ENST00000510237:exon34:c.6071-1G>C;ENST00000589993:exon22:c.2821-1G>C)	.	.	0.999968021563937	0.912
18	13117583	G	T	18	13117584	y	y	splicing	CEP192(NM_032142:exon44:c.7417-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5629-1G>T;ENST00000506447:exon44:c.7417-1G>T;ENST00000513432:exon38:c.8156-1G>T;ENST00000430049:exon34:c.5992-1G>T;ENST00000511820:exon34:c.6033-1G>T;ENST00000510237:exon34:c.6071-1G>T;ENST00000589993:exon22:c.2821-1G>T)	.	.	0.999968021563937	0.914
18	13117584	C	A	18	13117585	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.C7417A:p.L2473M;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.C5629A:p.L1877M;ENSG00000101639:ENST00000506447:exon44:c.C7417A:p.L2473M;ENSG00000101639:ENST00000430049:exon34:c.C5992A:p.L1998M;	0.926670920940905	0.818
18	13117584	C	G	18	13117585	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.C7417G:p.L2473V;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.C5629G:p.L1877V;ENSG00000101639:ENST00000506447:exon44:c.C7417G:p.L2473V;ENSG00000101639:ENST00000430049:exon34:c.C5992G:p.L1998V;	0.963908583326633	0.722
18	13117584	C	T	18	13117585	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon44:c.C7417T:p.L2473L;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.C5629T:p.L1877L;ENSG00000101639:ENST00000506447:exon44:c.C7417T:p.L2473L;ENSG00000101639:ENST00000430049:exon34:c.C5992T:p.L1998L;	0.037066993255176	0.29
18	13117585	T	A	18	13117586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.T7418A:p.L2473Q;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.T5630A:p.L1877Q;ENSG00000101639:ENST00000506447:exon44:c.T7418A:p.L2473Q;ENSG00000101639:ENST00000430049:exon34:c.T5993A:p.L1998Q;	0.250164008898427	0.488
18	13117585	T	C	18	13117586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.T7418C:p.L2473P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.T5630C:p.L1877P;ENSG00000101639:ENST00000506447:exon44:c.T7418C:p.L2473P;ENSG00000101639:ENST00000430049:exon34:c.T5993C:p.L1998P;	0.171701368377899	0.394
18	13117585	T	G	18	13117586	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.T7418G:p.L2473R;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.T5630G:p.L1877R;ENSG00000101639:ENST00000506447:exon44:c.T7418G:p.L2473R;ENSG00000101639:ENST00000430049:exon34:c.T5993G:p.L1998R;	0.150223692428718	0.434
18	13117640	G	A	18	13117641	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon44:c.G7473A:p.L2491L;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.G5685A:p.L1895L;ENSG00000101639:ENST00000506447:exon44:c.G7473A:p.L2491L;ENSG00000101639:ENST00000430049:exon34:c.G6048A:p.L2016L;	6.36262150512378E-4	0.016
18	13117640	G	C	18	13117641	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.G7473C:p.L2491F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.G5685C:p.L1895F;ENSG00000101639:ENST00000506447:exon44:c.G7473C:p.L2491F;ENSG00000101639:ENST00000430049:exon34:c.G6048C:p.L2016F;	0.120639092018154	0.416
18	13117640	G	T	18	13117641	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.G7473T:p.L2491F;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.G5685T:p.L1895F;ENSG00000101639:ENST00000506447:exon44:c.G7473T:p.L2491F;ENSG00000101639:ENST00000430049:exon34:c.G6048T:p.L2016F;	0.521951780974668	0.59
18	13117641	A	C	18	13117642	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon44:c.A7474C:p.R2492R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.A5686C:p.R1896R;ENSG00000101639:ENST00000506447:exon44:c.A7474C:p.R2492R;ENSG00000101639:ENST00000430049:exon34:c.A6049C:p.R2017R;	0.0455415361608537	0.342
18	13117641	A	G	18	13117642	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.A7474G:p.R2492G;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.A5686G:p.R1896G;ENSG00000101639:ENST00000506447:exon44:c.A7474G:p.R2492G;ENSG00000101639:ENST00000430049:exon34:c.A6049G:p.R2017G;	0.434024389888071	0.53
18	13117641	A	T	18	13117642	y	y	exonic	CEP192	stopgain SNV	CEP192:NM_032142:exon44:c.A7474T:p.R2492X;	exonic	ENSG00000101639	stopgain SNV	ENSG00000101639:ENST00000325971:exon42:c.A5686T:p.R1896X;ENSG00000101639:ENST00000506447:exon44:c.A7474T:p.R2492X;ENSG00000101639:ENST00000430049:exon34:c.A6049T:p.R2017X;	0.826297225252314	0.496
18	13117642	G	A	18	13117643	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.G7475A:p.R2492K;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.G5687A:p.R1896K;ENSG00000101639:ENST00000506447:exon44:c.G7475A:p.R2492K;ENSG00000101639:ENST00000430049:exon34:c.G6050A:p.R2017K;	0.996140686652686	0.83
18	13117642	G	C	18	13117643	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.G7475C:p.R2492T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.G5687C:p.R1896T;ENSG00000101639:ENST00000506447:exon44:c.G7475C:p.R2492T;ENSG00000101639:ENST00000430049:exon34:c.G6050C:p.R2017T;	0.998233557222998	0.91
18	13117642	G	T	18	13117643	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon44:c.G7475T:p.R2492I;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon42:c.G5687T:p.R1896I;ENSG00000101639:ENST00000506447:exon44:c.G7475T:p.R2492I;ENSG00000101639:ENST00000430049:exon34:c.G6050T:p.R2017I;	0.998035314779955	0.926
18	13117643	G	A	18	13117644	y	y	splicing	CEP192(NM_032142:exon44:c.7475+1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5687+1G>A;ENST00000506447:exon44:c.7475+1G>A;ENST00000513432:exon38:c.8214+1G>A;ENST00000430049:exon34:c.6050+1G>A;ENST00000511820:exon34:c.6091+1G>A;ENST00000510237:exon34:c.6129+1G>A;ENST00000589993:exon22:c.2879+1G>A)	.	.	0.999955485601963	0.9
18	13117643	G	C	18	13117644	y	y	splicing	CEP192(NM_032142:exon44:c.7475+1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5687+1G>C;ENST00000506447:exon44:c.7475+1G>C;ENST00000513432:exon38:c.8214+1G>C;ENST00000430049:exon34:c.6050+1G>C;ENST00000511820:exon34:c.6091+1G>C;ENST00000510237:exon34:c.6129+1G>C;ENST00000589993:exon22:c.2879+1G>C)	.	.	0.999956785519844	0.858
18	13117643	G	T	18	13117644	y	y	splicing	CEP192(NM_032142:exon44:c.7475+1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5687+1G>T;ENST00000506447:exon44:c.7475+1G>T;ENST00000513432:exon38:c.8214+1G>T;ENST00000430049:exon34:c.6050+1G>T;ENST00000511820:exon34:c.6091+1G>T;ENST00000510237:exon34:c.6129+1G>T;ENST00000589993:exon22:c.2879+1G>T)	.	.	0.999957897063701	0.892
18	13117644	T	A	18	13117645	y	y	splicing	CEP192(NM_032142:exon44:c.7475+2T>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5687+2T>A;ENST00000506447:exon44:c.7475+2T>A;ENST00000513432:exon38:c.8214+2T>A;ENST00000430049:exon34:c.6050+2T>A;ENST00000511820:exon34:c.6091+2T>A;ENST00000510237:exon34:c.6129+2T>A;ENST00000589993:exon22:c.2879+2T>A)	.	.	0.999972871252391	0.882
18	13117644	T	C	18	13117645	y	y	splicing	CEP192(NM_032142:exon44:c.7475+2T>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5687+2T>C;ENST00000506447:exon44:c.7475+2T>C;ENST00000513432:exon38:c.8214+2T>C;ENST00000430049:exon34:c.6050+2T>C;ENST00000511820:exon34:c.6091+2T>C;ENST00000510237:exon34:c.6129+2T>C;ENST00000589993:exon22:c.2879+2T>C)	.	.	0.959075591371416	0.568
18	13117644	T	G	18	13117645	y	y	splicing	CEP192(NM_032142:exon44:c.7475+2T>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon42:c.5687+2T>G;ENST00000506447:exon44:c.7475+2T>G;ENST00000513432:exon38:c.8214+2T>G;ENST00000430049:exon34:c.6050+2T>G;ENST00000511820:exon34:c.6091+2T>G;ENST00000510237:exon34:c.6129+2T>G;ENST00000589993:exon22:c.2879+2T>G)	.	.	0.999972155025474	0.868
18	13117645	A	C	18	13117646	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.437955691356404	0.486
18	13117645	A	G	18	13117646	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.55206940938753E-4	0.004
18	13117645	A	T	18	13117646	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.327417451900559	0.5
18	13117646	A	C	18	13117647	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.252345447146296	0.4
18	13117646	A	G	18	13117647	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.395640507384142	0.436
18	13117646	A	T	18	13117647	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.448345907908932	0.448
18	13117647	G	A	18	13117648	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.673694025089953	0.598
18	13117647	G	C	18	13117648	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.699524968574653	0.482
18	13117647	G	T	18	13117648	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.602806199775075	0.5
18	13117648	T	A	18	13117649	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.127068618109397	0.4
18	13117648	T	C	18	13117649	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.147618000959234	0.404
18	13117648	T	G	18	13117649	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.0130699781621272	0.258
18	13117649	T	A	18	13117650	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68622737106591E-5	0.036
18	13117649	T	C	18	13117650	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.68622737106591E-5	0.036
18	13117649	T	G	18	13117650	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.14899236092256E-5	0.04
18	13117650	T	A	18	13117651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.0408368037449E-5	0.06
18	13117650	T	C	18	13117651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.26529257123653E-5	0.042
18	13117650	T	G	18	13117651	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.0408368037449E-5	0.06
18	13124619	C	A	18	13124620	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	8.70699828754216E-5	0.008
18	13124619	C	G	18	13124620	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	9.76375196886672E-5	0.018
18	13124619	C	T	18	13124620	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.49928645186824E-5	0.0
18	13124620	T	A	18	13124621	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00139292986378323	0.25
18	13124620	T	C	18	13124621	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.01871846906947E-4	0.048
18	13124620	T	G	18	13124621	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.27422556102998E-4	0.168
18	13124621	C	A	18	13124622	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00297975454630022	0.124
18	13124621	C	G	18	13124622	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00153475507719657	0.036
18	13124621	C	T	18	13124622	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.06088340924688E-4	0.014
18	13124622	T	A	18	13124623	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00158874359446143	0.174
18	13124622	T	C	18	13124623	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.41930464932479E-4	0.016
18	13124622	T	G	18	13124623	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.00130375281841586	0.158
18	13124623	C	A	18	13124624	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	2.53134173682483E-4	0.03
18	13124623	C	G	18	13124624	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.7385076204395E-4	0.022
18	13124623	C	T	18	13124624	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.1664964386239E-5	0.016
18	13124624	T	A	18	13124625	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.68798696990756E-4	0.074
18	13124624	T	C	18	13124625	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.19642161920789E-5	0.008
18	13124624	T	G	18	13124625	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.73978421179551E-4	0.076
18	13124625	T	A	18	13124626	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.00476428201471E-4	0.006
18	13124625	T	C	18	13124626	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.53698925598701E-5	0.006
18	13124625	T	G	18	13124626	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	4.52595072043261E-4	0.034
18	13124626	T	A	18	13124627	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	3.36213653968381E-4	0.06
18	13124626	T	C	18	13124627	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	5.11834334174043E-5	0.004
18	13124626	T	G	18	13124627	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	7.78525922471934E-4	0.084
18	13124627	C	A	18	13124628	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.15013127162789E-5	0.0
18	13124627	C	G	18	13124628	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.87358110093748E-5	0.0
18	13124627	C	T	18	13124628	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	1.15013127162789E-5	0.0
18	13124628	C	A	18	13124629	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.710838520271729	0.484
18	13124628	C	G	18	13124629	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	0.999773058860199	0.922
18	13124628	C	T	18	13124629	y	y	intronic	CEP192	.	.	intronic	ENSG00000101639	.	.	6.73295024590029E-4	0.004
18	13124629	A	C	18	13124630	y	y	splicing	CEP192(NM_032142:exon45:c.7476-2A>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon43:c.5688-2A>C;ENST00000506447:exon45:c.7476-2A>C;ENST00000513432:exon39:c.8215-2A>C;ENST00000430049:exon35:c.6051-2A>C;ENST00000511820:exon35:c.6092-2A>C;ENST00000510237:exon35:c.6130-2A>C;ENST00000589993:exon23:c.2880-2A>C)	.	.	0.99994568797423	0.94
18	13124629	A	G	18	13124630	y	y	splicing	CEP192(NM_032142:exon45:c.7476-2A>G)	.	.	splicing	ENSG00000101639(ENST00000325971:exon43:c.5688-2A>G;ENST00000506447:exon45:c.7476-2A>G;ENST00000513432:exon39:c.8215-2A>G;ENST00000430049:exon35:c.6051-2A>G;ENST00000511820:exon35:c.6092-2A>G;ENST00000510237:exon35:c.6130-2A>G;ENST00000589993:exon23:c.2880-2A>G)	.	.	0.99994568797423	0.94
18	13124629	A	T	18	13124630	y	y	splicing	CEP192(NM_032142:exon45:c.7476-2A>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon43:c.5688-2A>T;ENST00000506447:exon45:c.7476-2A>T;ENST00000513432:exon39:c.8215-2A>T;ENST00000430049:exon35:c.6051-2A>T;ENST00000511820:exon35:c.6092-2A>T;ENST00000510237:exon35:c.6130-2A>T;ENST00000589993:exon23:c.2880-2A>T)	.	.	0.99994568797423	0.93
18	13124630	G	A	18	13124631	y	y	splicing	CEP192(NM_032142:exon45:c.7476-1G>A)	.	.	splicing	ENSG00000101639(ENST00000325971:exon43:c.5688-1G>A;ENST00000506447:exon45:c.7476-1G>A;ENST00000513432:exon39:c.8215-1G>A;ENST00000430049:exon35:c.6051-1G>A;ENST00000511820:exon35:c.6092-1G>A;ENST00000510237:exon35:c.6130-1G>A;ENST00000589993:exon23:c.2880-1G>A)	.	.	0.999989072007339	0.928
18	13124630	G	C	18	13124631	y	y	splicing	CEP192(NM_032142:exon45:c.7476-1G>C)	.	.	splicing	ENSG00000101639(ENST00000325971:exon43:c.5688-1G>C;ENST00000506447:exon45:c.7476-1G>C;ENST00000513432:exon39:c.8215-1G>C;ENST00000430049:exon35:c.6051-1G>C;ENST00000511820:exon35:c.6092-1G>C;ENST00000510237:exon35:c.6130-1G>C;ENST00000589993:exon23:c.2880-1G>C)	.	.	0.999989072007339	0.928
18	13124630	G	T	18	13124631	y	y	splicing	CEP192(NM_032142:exon45:c.7476-1G>T)	.	.	splicing	ENSG00000101639(ENST00000325971:exon43:c.5688-1G>T;ENST00000506447:exon45:c.7476-1G>T;ENST00000513432:exon39:c.8215-1G>T;ENST00000430049:exon35:c.6051-1G>T;ENST00000511820:exon35:c.6092-1G>T;ENST00000510237:exon35:c.6130-1G>T;ENST00000589993:exon23:c.2880-1G>T)	.	.	0.999989072007339	0.928
18	13124631	A	C	18	13124632	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon45:c.A7476C:p.R2492S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon43:c.A5688C:p.R1896S;ENSG00000101639:ENST00000506447:exon45:c.A7476C:p.R2492S;ENSG00000101639:ENST00000430049:exon35:c.A6051C:p.R2017S;	2.40544047280242E-5	0.12
18	13124631	A	G	18	13124632	y	y	exonic	CEP192	synonymous SNV	CEP192:NM_032142:exon45:c.A7476G:p.R2492R;	exonic	ENSG00000101639	synonymous SNV	ENSG00000101639:ENST00000325971:exon43:c.A5688G:p.R1896R;ENSG00000101639:ENST00000506447:exon45:c.A7476G:p.R2492R;ENSG00000101639:ENST00000430049:exon35:c.A6051G:p.R2017R;	6.55147740726679E-5	0.024
18	13124631	A	T	18	13124632	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon45:c.A7476T:p.R2492S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon43:c.A5688T:p.R1896S;ENSG00000101639:ENST00000506447:exon45:c.A7476T:p.R2492S;ENSG00000101639:ENST00000430049:exon35:c.A6051T:p.R2017S;	3.3873318171048E-5	0.064
18	13124632	G	A	18	13124633	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon45:c.G7477A:p.A2493T;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon43:c.G5689A:p.A1897T;ENSG00000101639:ENST00000506447:exon45:c.G7477A:p.A2493T;ENSG00000101639:ENST00000430049:exon35:c.G6052A:p.A2018T;	0.979999237496043	0.904
18	13124632	G	C	18	13124633	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon45:c.G7477C:p.A2493P;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon43:c.G5689C:p.A1897P;ENSG00000101639:ENST00000506447:exon45:c.G7477C:p.A2493P;ENSG00000101639:ENST00000430049:exon35:c.G6052C:p.A2018P;	0.977407826005947	0.834
18	13124632	G	T	18	13124633	y	y	exonic	CEP192	nonsynonymous SNV	CEP192:NM_032142:exon45:c.G7477T:p.A2493S;	exonic	ENSG00000101639	nonsynonymous SNV	ENSG00000101639:ENST00000325971:exon43:c.G5689T:p.A1897S;ENSG00000101639:ENST00000506447:exon45:c.G7477T:p.A2493S;ENSG00000101639:ENST00000430049:exon35:c.G6052T:p.A2018S;	0.0041591289633236	0.066
18	13218091	C	A	18	13218092	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00375954796434019	0.058
18	13218091	C	G	18	13218092	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00375954796434019	0.042
18	13218091	C	T	18	13218092	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00644508547513173	0.034
18	13218092	A	C	18	13218093	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00252652705881934	0.004
18	13218092	A	G	18	13218093	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00278424957825301	0.016
18	13218092	A	T	18	13218093	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00218780663269419	0.002
18	13218093	G	A	18	13218094	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00375954796434019	0.05
18	13218093	G	C	18	13218094	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00375954796434019	0.06
18	13218093	G	T	18	13218094	n	y	upstream	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00375954796434019	0.042
18	13218094	G	A	18	13218095	n	y	upstream	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.00667201009614057	0.03
18	13218094	G	C	18	13218095	n	y	upstream	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.00644508547513173	0.032
18	13218094	G	T	18	13218095	n	y	upstream	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.00667201009614057	0.032
18	13218095	T	A	18	13218096	n	y	upstream	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.00261584664080144	0.002
18	13218095	T	C	18	13218096	n	y	upstream	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.00252652705881934	0.002
18	13218095	T	G	18	13218096	n	y	upstream	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.00252652705881934	0.002
18	13218096	G	A	18	13218097	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.84209062630086E-4	0.002
18	13218096	G	C	18	13218097	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.46042006666616E-4	0.002
18	13218096	G	T	18	13218097	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.84209062630086E-4	0.004
18	13218097	A	C	18	13218098	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00236669399226255	0.002
18	13218097	A	G	18	13218098	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00236669399226255	0.002
18	13218097	A	T	18	13218098	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00236669399226255	0.008
18	13218098	G	A	18	13218099	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.84209062630086E-4	0.002
18	13218098	G	C	18	13218099	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.46042006666616E-4	0.002
18	13218098	G	T	18	13218099	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.84209062630086E-4	0.002
18	13218099	T	A	18	13218100	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.40076768459217E-4	0.0
18	13218099	T	C	18	13218100	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.40076768459217E-4	0.0
18	13218099	T	G	18	13218100	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.40076768459217E-4	0.0
18	13218100	G	A	18	13218101	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.84209062630086E-4	0.002
18	13218100	G	C	18	13218101	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.8898060314844E-4	0.002
18	13218100	G	T	18	13218101	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.84209062630086E-4	0.004
18	13218101	C	A	18	13218102	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00372622871008222	0.03
18	13218101	C	G	18	13218102	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00372622871008222	0.018
18	13218101	C	T	18	13218102	n	y	upstream	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00368760656317656	0.022
18	13218985	C	A	18	13218986	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	8.21797959257398E-4	0.182
18	13218985	C	G	18	13218986	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	7.04041452711354E-4	0.124
18	13218985	C	T	18	13218986	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.0147967046632006	0.264
18	13218986	C	A	18	13218987	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.54870486990941E-4	0.158
18	13218986	C	G	18	13218987	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00281255906238608	0.062
18	13218986	C	T	18	13218987	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00154422355877601	0.05
18	13218987	T	A	18	13218988	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	7.9203291827995E-5	0.006
18	13218987	T	C	18	13218988	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	8.60079524980015E-4	0.262
18	13218987	T	G	18	13218988	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.58871862843601E-4	0.026
18	13218988	G	A	18	13218989	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999951608398927	0.938
18	13218988	G	C	18	13218989	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999951608398927	0.95
18	13218988	G	T	18	13218989	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999951608398927	0.95
18	13218989	T	A	18	13218990	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999952520222455	0.936
18	13218989	T	C	18	13218990	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999887568580455	0.916
18	13218989	T	G	18	13218990	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999952520222455	0.936
18	13218990	G	A	18	13218991	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.79758960056983E-4	0.008
18	13218990	G	C	18	13218991	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.997480057053297	0.714
18	13218990	G	T	18	13218991	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.996583008043327	0.674
18	13218991	A	C	18	13218992	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.987647928618858	0.684
18	13218991	A	G	18	13218992	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999593232935943	0.898
18	13218991	A	T	18	13218992	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999717537038119	0.85
18	13218992	G	A	18	13218993	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999980162981677	0.992
18	13218992	G	C	18	13218993	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999985199905378	0.98
18	13218992	G	T	18	13218993	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.99997937001745	0.974
18	13218993	T	A	18	13218994	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.871771225388949	0.54
18	13218993	T	C	18	13218994	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.869574536734224	0.626
18	13218993	T	G	18	13218994	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.548462307488588	0.53
18	13218994	A	C	18	13218995	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.92557056647883E-5	0.0
18	13218994	A	G	18	13218995	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.92557056647883E-5	0.002
18	13218994	A	T	18	13218995	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.84517067648505E-5	0.0
18	13218995	C	A	18	13218996	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.81776890292823E-4	0.03
18	13218995	C	G	18	13218996	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.01890197764234E-4	0.012
18	13218995	C	T	18	13218996	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.32237681840433E-4	0.078
18	13278092	C	A	18	13278093	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.81622173079386E-4	0.034
18	13278092	C	G	18	13278093	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.02430979158622E-4	0.056
18	13278092	C	T	18	13278093	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.94888321865574E-5	0.012
18	13278093	T	A	18	13278094	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00339426414926271	0.182
18	13278093	T	C	18	13278094	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.56551125833256E-4	0.052
18	13278093	T	G	18	13278094	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00127302101758079	0.142
18	13278094	T	A	18	13278095	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00685891960997357	0.094
18	13278094	T	C	18	13278095	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.79205118516098E-4	0.004
18	13278094	T	G	18	13278095	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00333285468367005	0.116
18	13278095	T	A	18	13278096	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00169187823767617	0.108
18	13278095	T	C	18	13278096	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.33583242059364E-5	0.012
18	13278095	T	G	18	13278096	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.85170495409179E-4	0.164
18	13278096	C	A	18	13278097	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.5454488961257E-4	0.006
18	13278096	C	G	18	13278097	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.33713294717755E-5	0.014
18	13278096	C	T	18	13278097	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.41093212361135E-5	0.006
18	13278097	T	A	18	13278098	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.180097682284E-4	0.03
18	13278097	T	C	18	13278098	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.01021651127236E-5	0.0
18	13278097	T	G	18	13278098	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00141540955887181	0.024
18	13278098	T	A	18	13278099	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.64583274627101E-4	0.016
18	13278098	T	C	18	13278099	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.44584911845617E-5	0.002
18	13278098	T	G	18	13278099	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00125357804259138	0.068
18	13278099	T	A	18	13278100	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00121828441051985	0.09
18	13278099	T	C	18	13278100	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.28148564835731E-5	0.002
18	13278099	T	G	18	13278100	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00102086215443206	0.1
18	13278100	C	A	18	13278101	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.59107452330714E-5	0.0
18	13278100	C	G	18	13278101	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.62955548003185E-4	0.002
18	13278100	C	T	18	13278101	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.92548663283167E-5	0.0
18	13278101	T	A	18	13278102	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.51130355702184E-4	0.1
18	13278101	T	C	18	13278102	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.70381162472181E-5	0.0
18	13278101	T	G	18	13278102	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.869546386141864	0.66
18	13278102	A	C	18	13278103	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999929575678921	0.774
18	13278102	A	G	18	13278103	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999929575678921	0.774
18	13278102	A	T	18	13278103	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999946001720132	0.754
18	13278103	G	A	18	13278104	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999942513266374	0.818
18	13278103	G	C	18	13278104	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999942513266374	0.804
18	13278103	G	T	18	13278104	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999942513266374	0.812
18	13278104	C	A	18	13278105	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.48704017304088E-5	0.0
18	13278104	C	G	18	13278105	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.45064274461688E-5	0.052
18	13278104	C	T	18	13278105	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.75964209073859E-5	0.006
18	13278105	G	A	18	13278106	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.12224748234656E-5	0.006
18	13278105	G	C	18	13278106	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	2.23011001264645E-5	0.0
18	13278105	G	T	18	13278106	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	7.88765226211698E-6	0.0
18	13278185	A	C	18	13278186	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.06861886277837E-5	0.0
18	13278185	A	G	18	13278186	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.63154512956088E-5	0.0
18	13278185	A	T	18	13278186	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	6.98066678487342E-4	0.098
18	13278186	A	C	18	13278187	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.016147849573923	0.326
18	13278186	A	G	18	13278187	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.0359788650444821	0.204
18	13278186	A	T	18	13278187	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.0214849029467897	0.338
18	13278187	G	A	18	13278188	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.165302469782785	0.466
18	13278187	G	C	18	13278188	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.498384282400159	0.52
18	13278187	G	T	18	13278188	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.638329304871031	0.574
18	13278188	G	A	18	13278189	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999964778332955	0.758
18	13278188	G	C	18	13278189	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999954063793075	0.756
18	13278188	G	T	18	13278189	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999954063793075	0.758
18	13278189	T	A	18	13278190	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999871793741964	0.842
18	13278189	T	C	18	13278190	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.87203447315872	0.578
18	13278189	T	G	18	13278190	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.999871793741964	0.806
18	13278190	A	C	18	13278191	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.440127625069683	0.634
18	13278190	A	G	18	13278191	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.87647506464251E-4	0.004
18	13278190	A	T	18	13278191	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.184744747051627	0.564
18	13278191	A	C	18	13278192	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00508546728640802	0.23
18	13278191	A	G	18	13278192	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0143197273370245	0.316
18	13278191	A	T	18	13278192	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00901278748353011	0.194
18	13278192	G	A	18	13278193	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.544544697913196	0.544
18	13278192	G	C	18	13278193	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.535719804108858	0.534
18	13278192	G	T	18	13278193	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.710519817187557	0.584
18	13278193	T	A	18	13278194	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.48535247013663E-4	0.022
18	13278193	T	C	18	13278194	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.11111404981109E-4	0.01
18	13278193	T	G	18	13278194	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.2117393776751E-5	0.012
18	13278194	G	A	18	13278195	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.93248123866459E-5	0.002
18	13278194	G	C	18	13278195	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.93248123866459E-5	0.08
18	13278194	G	T	18	13278195	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.93248123866459E-5	0.0
18	13278195	G	A	18	13278196	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.24015432087519E-5	0.0
18	13278195	G	C	18	13278196	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.24558403055701E-5	0.002
18	13278195	G	T	18	13278196	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.42303541839875E-5	0.002
18	13382724	T	A	18	13382725	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	6.38118228050303E-4	0.016
18	13382724	T	C	18	13382725	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	6.38118228050303E-4	0.016
18	13382724	T	G	18	13382725	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	6.38118228050303E-4	0.016
18	13382725	G	A	18	13382726	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.68952365742707E-5	0.006
18	13382725	G	C	18	13382726	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.68952365742707E-5	0.002
18	13382725	G	T	18	13382726	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.68952365742707E-5	0.002
18	13382726	G	A	18	13382727	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	8.60863404546497E-4	0.03
18	13382726	G	C	18	13382727	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.0015431907952587	0.03
18	13382726	G	T	18	13382727	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	8.60863404546497E-4	0.03
18	13382727	G	A	18	13382728	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.52932449848953E-5	0.002
18	13382727	G	C	18	13382728	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.52932449848953E-5	0.002
18	13382727	G	T	18	13382728	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.52932449848953E-5	0.006
18	13382728	T	A	18	13382729	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	5.65959444057763E-5	0.01
18	13382728	T	C	18	13382729	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	5.65959444057763E-5	0.01
18	13382728	T	G	18	13382729	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	5.65959444057763E-5	0.014
18	13382729	A	C	18	13382730	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.55427294637899E-5	0.026
18	13382729	A	G	18	13382730	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.55427294637899E-5	0.026
18	13382729	A	T	18	13382730	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.55427294637899E-5	0.024
18	13382730	A	C	18	13382731	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.65959444057763E-5	0.01
18	13382730	A	G	18	13382731	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.65959444057763E-5	0.01
18	13382730	A	T	18	13382731	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.65959444057763E-5	0.01
18	13382731	G	A	18	13382732	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.74480241737554E-4	0.004
18	13382731	G	C	18	13382732	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.74480241737554E-4	0.008
18	13382731	G	T	18	13382732	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.74480241737554E-4	0.006
18	13382732	T	A	18	13382733	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.38118228050303E-4	0.016
18	13382732	T	C	18	13382733	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.38118228050303E-4	0.016
18	13382732	T	G	18	13382733	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.38118228050303E-4	0.016
18	13382733	T	A	18	13382734	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.40940918270023E-4	0.0
18	13382733	T	C	18	13382734	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.988547447365E-5	0.0
18	13382733	T	G	18	13382734	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.54864014224924E-5	0.0
18	13382734	G	A	18	13382735	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.90414643571129E-5	0.0
18	13382734	G	C	18	13382735	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.90414643571129E-5	0.0
18	13382734	G	T	18	13382735	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.90414643571129E-5	0.0
18	13387328	C	A	18	13387329	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.39616291294954E-4	0.018
18	13387328	C	G	18	13387329	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.0744246188755E-4	0.052
18	13387328	C	T	18	13387329	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.20302603723608E-5	0.014
18	13387329	T	A	18	13387330	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0271785062847929	0.318
18	13387329	T	C	18	13387330	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0127387646221747	0.244
18	13387329	T	G	18	13387330	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00353705879430331	0.24
18	13387330	T	A	18	13387331	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999141900506639	0.988
18	13387330	T	C	18	13387331	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.4911576607888E-5	0.004
18	13387330	T	G	18	13387331	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00118519424460484	0.108
18	13387331	G	A	18	13387332	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.2589374452687E-4	0.002
18	13387331	G	C	18	13387332	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.17625099766482E-5	0.0
18	13387331	G	T	18	13387332	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.17782691170433E-5	0.004
18	13387332	C	A	18	13387333	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.16969062465706E-4	0.088
18	13387332	C	G	18	13387333	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00170418618236397	0.092
18	13387332	C	T	18	13387333	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.72018963232685E-5	0.002
18	13387333	T	A	18	13387334	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00692242652006115	0.154
18	13387333	T	C	18	13387334	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.18610390640832E-4	0.022
18	13387333	T	G	18	13387334	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00760167746263075	0.136
18	13387334	T	A	18	13387335	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.138254435839856	0.26
18	13387334	T	C	18	13387335	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00128620800085622	0.098
18	13387334	T	G	18	13387335	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0899133242312447	0.302
18	13387335	T	A	18	13387336	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0813988225285522	0.424
18	13387335	T	C	18	13387336	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0607646969838908	0.174
18	13387335	T	G	18	13387336	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.063258688798096	0.392
18	13387336	T	A	18	13387337	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.15449841534625E-5	0.058
18	13387336	T	C	18	13387337	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.20052475316901E-5	0.0
18	13387336	T	G	18	13387337	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.15449841534625E-5	0.008
18	13387337	C	A	18	13387338	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.440376964723182	0.496
18	13387337	C	G	18	13387338	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999554229609571	0.774
18	13387337	C	T	18	13387338	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00108961878755733	0.014
18	13387338	A	C	18	13387339	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.997268733977452	0.472
18	13387338	A	G	18	13387339	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.997268733977452	0.47
18	13387338	A	T	18	13387339	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.997268733977452	0.482
18	13387339	G	A	18	13387340	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.996980706893212	0.458
18	13387339	G	C	18	13387340	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.996980706893212	0.394
18	13387339	G	T	18	13387340	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	0.996980706893212	0.452
18	13387340	T	A	18	13387341	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.03945929216732E-4	0.014
18	13387340	T	C	18	13387341	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	9.30965306583277E-4	0.012
18	13387340	T	G	18	13387341	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.7652017107272E-4	0.1
18	13387341	T	A	18	13387342	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00203627872933031	0.092
18	13387341	T	C	18	13387342	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00133182658958046	0.124
18	13387341	T	G	18	13387342	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.13893974589613E-4	0.078
18	13387759	C	A	18	13387760	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon2:c.C38A:p.T13K;LDLRAD4:NM_181482:exon3:c.C38A:p.T13K;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon3:c.C38A:p.T13K;ENSG00000168675:ENST00000361205:exon3:c.C38A:p.T13K;ENSG00000168675:ENST00000359446:exon2:c.C38A:p.T13K;ENSG00000168675:ENST00000586222:exon2:c.C38A:p.T13K;ENSG00000168675:ENST00000399848:exon3:c.C38A:p.T13K;	0.737215371876334	0.62
18	13387759	C	G	18	13387760	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon2:c.C38G:p.T13R;LDLRAD4:NM_181482:exon3:c.C38G:p.T13R;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon3:c.C38G:p.T13R;ENSG00000168675:ENST00000361205:exon3:c.C38G:p.T13R;ENSG00000168675:ENST00000359446:exon2:c.C38G:p.T13R;ENSG00000168675:ENST00000586222:exon2:c.C38G:p.T13R;ENSG00000168675:ENST00000399848:exon3:c.C38G:p.T13R;	0.709068647898218	0.616
18	13387759	C	T	18	13387760	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon2:c.C38T:p.T13I;LDLRAD4:NM_181482:exon3:c.C38T:p.T13I;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon3:c.C38T:p.T13I;ENSG00000168675:ENST00000361205:exon3:c.C38T:p.T13I;ENSG00000168675:ENST00000359446:exon2:c.C38T:p.T13I;ENSG00000168675:ENST00000586222:exon2:c.C38T:p.T13I;ENSG00000168675:ENST00000399848:exon3:c.C38T:p.T13I;	0.995863807159654	0.844
18	13387760	A	C	18	13387761	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon2:c.A39C:p.T13T;LDLRAD4:NM_181482:exon3:c.A39C:p.T13T;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000587905:exon3:c.A39C:p.T13T;ENSG00000168675:ENST00000361205:exon3:c.A39C:p.T13T;ENSG00000168675:ENST00000359446:exon2:c.A39C:p.T13T;ENSG00000168675:ENST00000586222:exon2:c.A39C:p.T13T;ENSG00000168675:ENST00000399848:exon3:c.A39C:p.T13T;	0.467334921858217	0.54
18	13387760	A	G	18	13387761	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon2:c.A39G:p.T13T;LDLRAD4:NM_181482:exon3:c.A39G:p.T13T;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000587905:exon3:c.A39G:p.T13T;ENSG00000168675:ENST00000361205:exon3:c.A39G:p.T13T;ENSG00000168675:ENST00000359446:exon2:c.A39G:p.T13T;ENSG00000168675:ENST00000586222:exon2:c.A39G:p.T13T;ENSG00000168675:ENST00000399848:exon3:c.A39G:p.T13T;	0.480175279323066	0.506
18	13387760	A	T	18	13387761	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon2:c.A39T:p.T13T;LDLRAD4:NM_181482:exon3:c.A39T:p.T13T;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000587905:exon3:c.A39T:p.T13T;ENSG00000168675:ENST00000361205:exon3:c.A39T:p.T13T;ENSG00000168675:ENST00000359446:exon2:c.A39T:p.T13T;ENSG00000168675:ENST00000586222:exon2:c.A39T:p.T13T;ENSG00000168675:ENST00000399848:exon3:c.A39T:p.T13T;	0.794935397199178	0.644
18	13387761	G	A	18	13387762	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon2:c.G40A:p.E14K;LDLRAD4:NM_181482:exon3:c.G40A:p.E14K;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon3:c.G40A:p.E14K;ENSG00000168675:ENST00000361205:exon3:c.G40A:p.E14K;ENSG00000168675:ENST00000359446:exon2:c.G40A:p.E14K;ENSG00000168675:ENST00000586222:exon2:c.G40A:p.E14K;ENSG00000168675:ENST00000399848:exon3:c.G40A:p.E14K;	0.999896338369556	0.976
18	13387761	G	C	18	13387762	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon2:c.G40C:p.E14Q;LDLRAD4:NM_181482:exon3:c.G40C:p.E14Q;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon3:c.G40C:p.E14Q;ENSG00000168675:ENST00000361205:exon3:c.G40C:p.E14Q;ENSG00000168675:ENST00000359446:exon2:c.G40C:p.E14Q;ENSG00000168675:ENST00000586222:exon2:c.G40C:p.E14Q;ENSG00000168675:ENST00000399848:exon3:c.G40C:p.E14Q;	0.999992881029721	1.0
18	13387761	G	T	18	13387762	y	y	exonic	LDLRAD4	stopgain SNV	LDLRAD4:NM_181481:exon2:c.G40T:p.E14X;LDLRAD4:NM_181482:exon3:c.G40T:p.E14X;	exonic	ENSG00000168675	stopgain SNV	ENSG00000168675:ENST00000587905:exon3:c.G40T:p.E14X;ENSG00000168675:ENST00000361205:exon3:c.G40T:p.E14X;ENSG00000168675:ENST00000359446:exon2:c.G40T:p.E14X;ENSG00000168675:ENST00000586222:exon2:c.G40T:p.E14X;ENSG00000168675:ENST00000399848:exon3:c.G40T:p.E14X;	0.9999643499105	0.996
18	13387762	G	A	18	13387763	y	y	splicing	LDLRAD4(NM_181482:exon3:c.40+1G>A;NM_181481:exon2:c.40+1G>A)	.	.	splicing	ENSG00000168675(ENST00000587905:exon3:c.40+1G>A;ENST00000361205:exon3:c.40+1G>A;ENST00000399848:exon3:c.40+1G>A;ENST00000359446:exon2:c.40+1G>A;ENST00000586222:exon2:c.40+1G>A)	.	.	0.999981447013919	0.932
18	13387762	G	C	18	13387763	y	y	splicing	LDLRAD4(NM_181482:exon3:c.40+1G>C;NM_181481:exon2:c.40+1G>C)	.	.	splicing	ENSG00000168675(ENST00000587905:exon3:c.40+1G>C;ENST00000361205:exon3:c.40+1G>C;ENST00000399848:exon3:c.40+1G>C;ENST00000359446:exon2:c.40+1G>C;ENST00000586222:exon2:c.40+1G>C)	.	.	0.999976137096505	0.932
18	13387762	G	T	18	13387763	y	y	splicing	LDLRAD4(NM_181482:exon3:c.40+1G>T;NM_181481:exon2:c.40+1G>T)	.	.	splicing	ENSG00000168675(ENST00000587905:exon3:c.40+1G>T;ENST00000361205:exon3:c.40+1G>T;ENST00000399848:exon3:c.40+1G>T;ENST00000359446:exon2:c.40+1G>T;ENST00000586222:exon2:c.40+1G>T)	.	.	0.999976137096505	0.934
18	13387763	T	A	18	13387764	y	y	splicing	LDLRAD4(NM_181482:exon3:c.40+2T>A;NM_181481:exon2:c.40+2T>A)	.	.	splicing	ENSG00000168675(ENST00000587905:exon3:c.40+2T>A;ENST00000361205:exon3:c.40+2T>A;ENST00000399848:exon3:c.40+2T>A;ENST00000359446:exon2:c.40+2T>A;ENST00000586222:exon2:c.40+2T>A)	.	.	0.999987212236324	0.926
18	13387763	T	C	18	13387764	y	y	splicing	LDLRAD4(NM_181482:exon3:c.40+2T>C;NM_181481:exon2:c.40+2T>C)	.	.	splicing	ENSG00000168675(ENST00000587905:exon3:c.40+2T>C;ENST00000361205:exon3:c.40+2T>C;ENST00000399848:exon3:c.40+2T>C;ENST00000359446:exon2:c.40+2T>C;ENST00000586222:exon2:c.40+2T>C)	.	.	0.999800555024016	0.86
18	13387763	T	G	18	13387764	y	y	splicing	LDLRAD4(NM_181482:exon3:c.40+2T>G;NM_181481:exon2:c.40+2T>G)	.	.	splicing	ENSG00000168675(ENST00000587905:exon3:c.40+2T>G;ENST00000361205:exon3:c.40+2T>G;ENST00000399848:exon3:c.40+2T>G;ENST00000359446:exon2:c.40+2T>G;ENST00000586222:exon2:c.40+2T>G)	.	.	0.999967001206676	0.926
18	13387764	G	A	18	13387765	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.8384408939642E-4	0.014
18	13387764	G	C	18	13387765	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.830721791703618	0.558
18	13387764	G	T	18	13387765	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.98225278439938	0.618
18	13387765	A	C	18	13387766	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.515054647506039	0.442
18	13387765	A	G	18	13387766	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.767031959442148	0.406
18	13387765	A	T	18	13387766	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.90581903009525	0.576
18	13387766	G	A	18	13387767	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.990109648008859	0.716
18	13387766	G	C	18	13387767	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.948156798361035	0.562
18	13387766	G	T	18	13387767	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.992113873279596	0.742
18	13387767	C	A	18	13387768	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.8618997087329E-5	0.006
18	13387767	C	G	18	13387768	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.67816541949545E-5	0.048
18	13387767	C	T	18	13387768	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.35772362872143E-6	0.0
18	13387768	A	C	18	13387769	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.92321658416965E-5	0.0
18	13387768	A	G	18	13387769	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.09776463045966E-5	0.022
18	13387768	A	T	18	13387769	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.59309500528977E-4	0.028
18	13387769	T	A	18	13387770	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.0680089989629E-5	0.002
18	13387769	T	C	18	13387770	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.00783251142804E-5	0.002
18	13387769	T	G	18	13387770	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.0680089989629E-5	0.0
18	13438231	G	A	18	13438232	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0663899473479557	0.268
18	13438231	G	C	18	13438232	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0145804638899262	0.254
18	13438231	G	T	18	13438232	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00756717370413202	0.3
18	13438232	T	A	18	13438233	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.986082555448341	0.72
18	13438232	T	C	18	13438233	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0110606696158316	0.284
18	13438232	T	G	18	13438233	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.976570022516336	0.648
18	13438233	A	C	18	13438234	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.13981147423392E-5	0.032
18	13438233	A	G	18	13438234	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.18565803114519E-5	0.03
18	13438233	A	T	18	13438234	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.7027569343159E-5	0.076
18	13438234	C	A	18	13438235	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0018880557495714	0.15
18	13438234	C	G	18	13438235	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999728664349427	0.968
18	13438234	C	T	18	13438235	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.22671618943477E-4	0.306
18	13438235	T	A	18	13438236	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.81059340212405	0.472
18	13438235	T	C	18	13438236	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.68008620067104E-4	0.04
18	13438235	T	G	18	13438236	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.32627251209917	0.368
18	13438236	T	A	18	13438237	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.964121659211905	0.684
18	13438236	T	C	18	13438237	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.86640747218859E-4	0.144
18	13438236	T	G	18	13438237	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.961181468554002	0.572
18	13438237	T	A	18	13438238	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.99627625810057	0.914
18	13438237	T	C	18	13438238	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0249631135480997	0.318
18	13438237	T	G	18	13438238	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.99645427562754	0.916
18	13438238	T	A	18	13438239	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.998060248334234	0.93
18	13438238	T	C	18	13438239	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.454174844296546	0.43
18	13438238	T	G	18	13438239	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.998392275292436	0.924
18	13438239	T	A	18	13438240	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.22613258177345E-4	0.01
18	13438239	T	C	18	13438240	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.81056118927815E-4	0.054
18	13438239	T	G	18	13438240	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00103114158567738	0.068
18	13438240	C	A	18	13438241	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999381477229055	0.946
18	13438240	C	G	18	13438241	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999949076978934	0.986
18	13438240	C	T	18	13438241	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.883800359549548	0.298
18	13438241	A	C	18	13438242	y	y	splicing	LDLRAD4(NM_181482:exon4:c.41-2A>C;NM_181481:exon3:c.41-2A>C)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.41-2A>C;ENST00000361205:exon4:c.41-2A>C;ENST00000399848:exon4:c.41-2A>C;ENST00000359446:exon3:c.41-2A>C;ENST00000586222:exon3:c.41-2A>C)	.	.	0.999989917668626	0.948
18	13438241	A	G	18	13438242	y	y	splicing	LDLRAD4(NM_181482:exon4:c.41-2A>G;NM_181481:exon3:c.41-2A>G)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.41-2A>G;ENST00000361205:exon4:c.41-2A>G;ENST00000399848:exon4:c.41-2A>G;ENST00000359446:exon3:c.41-2A>G;ENST00000586222:exon3:c.41-2A>G)	.	.	0.999989917668626	0.948
18	13438241	A	T	18	13438242	y	y	splicing	LDLRAD4(NM_181482:exon4:c.41-2A>T;NM_181481:exon3:c.41-2A>T)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.41-2A>T;ENST00000361205:exon4:c.41-2A>T;ENST00000399848:exon4:c.41-2A>T;ENST00000359446:exon3:c.41-2A>T;ENST00000586222:exon3:c.41-2A>T)	.	.	0.999989917668626	0.948
18	13438242	G	A	18	13438243	y	y	splicing	LDLRAD4(NM_181482:exon4:c.41-1G>A;NM_181481:exon3:c.41-1G>A)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.41-1G>A;ENST00000361205:exon4:c.41-1G>A;ENST00000399848:exon4:c.41-1G>A;ENST00000359446:exon3:c.41-1G>A;ENST00000586222:exon3:c.41-1G>A)	.	.	0.999981760802075	0.954
18	13438242	G	C	18	13438243	y	y	splicing	LDLRAD4(NM_181482:exon4:c.41-1G>C;NM_181481:exon3:c.41-1G>C)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.41-1G>C;ENST00000361205:exon4:c.41-1G>C;ENST00000399848:exon4:c.41-1G>C;ENST00000359446:exon3:c.41-1G>C;ENST00000586222:exon3:c.41-1G>C)	.	.	0.999981760802075	0.954
18	13438242	G	T	18	13438243	y	y	splicing	LDLRAD4(NM_181482:exon4:c.41-1G>T;NM_181481:exon3:c.41-1G>T)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.41-1G>T;ENST00000361205:exon4:c.41-1G>T;ENST00000399848:exon4:c.41-1G>T;ENST00000359446:exon3:c.41-1G>T;ENST00000586222:exon3:c.41-1G>T)	.	.	0.999981760802075	0.954
18	13438243	A	C	18	13438244	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.A41C:p.E14A;LDLRAD4:NM_181482:exon4:c.A41C:p.E14A;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.A41C:p.E14A;ENSG00000168675:ENST00000361205:exon4:c.A41C:p.E14A;ENSG00000168675:ENST00000359446:exon3:c.A41C:p.E14A;ENSG00000168675:ENST00000586222:exon3:c.A41C:p.E14A;ENSG00000168675:ENST00000399848:exon4:c.A41C:p.E14A;	0.489833925157611	0.52
18	13438243	A	G	18	13438244	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.A41G:p.E14G;LDLRAD4:NM_181482:exon4:c.A41G:p.E14G;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.A41G:p.E14G;ENSG00000168675:ENST00000361205:exon4:c.A41G:p.E14G;ENSG00000168675:ENST00000359446:exon3:c.A41G:p.E14G;ENSG00000168675:ENST00000586222:exon3:c.A41G:p.E14G;ENSG00000168675:ENST00000399848:exon4:c.A41G:p.E14G;	0.519559289804093	0.614
18	13438243	A	T	18	13438244	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.A41T:p.E14V;LDLRAD4:NM_181482:exon4:c.A41T:p.E14V;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.A41T:p.E14V;ENSG00000168675:ENST00000361205:exon4:c.A41T:p.E14V;ENSG00000168675:ENST00000359446:exon3:c.A41T:p.E14V;ENSG00000168675:ENST00000586222:exon3:c.A41T:p.E14V;ENSG00000168675:ENST00000399848:exon4:c.A41T:p.E14V;	0.274882848124224	0.456
18	13438244	G	A	18	13438245	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon3:c.G42A:p.E14E;LDLRAD4:NM_181482:exon4:c.G42A:p.E14E;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.G42A:p.E14E;ENSG00000168675:ENST00000361205:exon4:c.G42A:p.E14E;ENSG00000168675:ENST00000359446:exon3:c.G42A:p.E14E;ENSG00000168675:ENST00000586222:exon3:c.G42A:p.E14E;ENSG00000168675:ENST00000399848:exon4:c.G42A:p.E14E;	0.00387671866053001	0.158
18	13438244	G	C	18	13438245	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.G42C:p.E14D;LDLRAD4:NM_181482:exon4:c.G42C:p.E14D;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.G42C:p.E14D;ENSG00000168675:ENST00000361205:exon4:c.G42C:p.E14D;ENSG00000168675:ENST00000359446:exon3:c.G42C:p.E14D;ENSG00000168675:ENST00000586222:exon3:c.G42C:p.E14D;ENSG00000168675:ENST00000399848:exon4:c.G42C:p.E14D;	0.115855887869591	0.376
18	13438244	G	T	18	13438245	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.G42T:p.E14D;LDLRAD4:NM_181482:exon4:c.G42T:p.E14D;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.G42T:p.E14D;ENSG00000168675:ENST00000361205:exon4:c.G42T:p.E14D;ENSG00000168675:ENST00000359446:exon3:c.G42T:p.E14D;ENSG00000168675:ENST00000586222:exon3:c.G42T:p.E14D;ENSG00000168675:ENST00000399848:exon4:c.G42T:p.E14D;	0.0773883299476569	0.35
18	13438381	A	C	18	13438382	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.A179C:p.N60T;LDLRAD4:NM_181482:exon4:c.A179C:p.N60T;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.A179C:p.N60T;ENSG00000168675:ENST00000361205:exon4:c.A179C:p.N60T;ENSG00000168675:ENST00000359446:exon3:c.A179C:p.N60T;ENSG00000168675:ENST00000399848:exon4:c.A179C:p.N60T;	6.04936123112917E-5	0.006
18	13438381	A	G	18	13438382	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.A179G:p.N60S;LDLRAD4:NM_181482:exon4:c.A179G:p.N60S;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.A179G:p.N60S;ENSG00000168675:ENST00000361205:exon4:c.A179G:p.N60S;ENSG00000168675:ENST00000359446:exon3:c.A179G:p.N60S;ENSG00000168675:ENST00000399848:exon4:c.A179G:p.N60S;	9.04308505566207E-5	0.004
18	13438381	A	T	18	13438382	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.A179T:p.N60I;LDLRAD4:NM_181482:exon4:c.A179T:p.N60I;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.A179T:p.N60I;ENSG00000168675:ENST00000361205:exon4:c.A179T:p.N60I;ENSG00000168675:ENST00000359446:exon3:c.A179T:p.N60I;ENSG00000168675:ENST00000399848:exon4:c.A179T:p.N60I;	0.0217642896034368	0.374
18	13438382	C	A	18	13438383	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.C180A:p.N60K;LDLRAD4:NM_181482:exon4:c.C180A:p.N60K;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.C180A:p.N60K;ENSG00000168675:ENST00000361205:exon4:c.C180A:p.N60K;ENSG00000168675:ENST00000359446:exon3:c.C180A:p.N60K;ENSG00000168675:ENST00000399848:exon4:c.C180A:p.N60K;	0.00364737246831783	0.086
18	13438382	C	G	18	13438383	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.C180G:p.N60K;LDLRAD4:NM_181482:exon4:c.C180G:p.N60K;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.C180G:p.N60K;ENSG00000168675:ENST00000361205:exon4:c.C180G:p.N60K;ENSG00000168675:ENST00000359446:exon3:c.C180G:p.N60K;ENSG00000168675:ENST00000399848:exon4:c.C180G:p.N60K;	0.00934712385411922	0.094
18	13438382	C	T	18	13438383	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon3:c.C180T:p.N60N;LDLRAD4:NM_181482:exon4:c.C180T:p.N60N;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.C180T:p.N60N;ENSG00000168675:ENST00000361205:exon4:c.C180T:p.N60N;ENSG00000168675:ENST00000359446:exon3:c.C180T:p.N60N;ENSG00000168675:ENST00000399848:exon4:c.C180T:p.N60N;	0.542037517700091	0.608
18	13438383	T	A	18	13438384	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.T181A:p.S61T;LDLRAD4:NM_181482:exon4:c.T181A:p.S61T;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.T181A:p.S61T;ENSG00000168675:ENST00000361205:exon4:c.T181A:p.S61T;ENSG00000168675:ENST00000359446:exon3:c.T181A:p.S61T;ENSG00000168675:ENST00000399848:exon4:c.T181A:p.S61T;	0.00602753966845432	0.052
18	13438383	T	C	18	13438384	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.T181C:p.S61P;LDLRAD4:NM_181482:exon4:c.T181C:p.S61P;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.T181C:p.S61P;ENSG00000168675:ENST00000361205:exon4:c.T181C:p.S61P;ENSG00000168675:ENST00000359446:exon3:c.T181C:p.S61P;ENSG00000168675:ENST00000399848:exon4:c.T181C:p.S61P;	0.937032378515562	0.882
18	13438383	T	G	18	13438384	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon3:c.T181G:p.S61A;LDLRAD4:NM_181482:exon4:c.T181G:p.S61A;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon4:c.T181G:p.S61A;ENSG00000168675:ENST00000361205:exon4:c.T181G:p.S61A;ENSG00000168675:ENST00000359446:exon3:c.T181G:p.S61A;ENSG00000168675:ENST00000399848:exon4:c.T181G:p.S61A;	1.58252142059862E-4	0.114
18	13438384	G	A	18	13438385	y	y	splicing	LDLRAD4(NM_181482:exon4:c.181+1G>A;NM_181481:exon3:c.181+1G>A)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.181+1G>A;ENST00000361205:exon4:c.181+1G>A;ENST00000399848:exon4:c.181+1G>A;ENST00000359446:exon3:c.181+1G>A)	.	.	0.999981760802075	0.938
18	13438384	G	C	18	13438385	y	y	splicing	LDLRAD4(NM_181482:exon4:c.181+1G>C;NM_181481:exon3:c.181+1G>C)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.181+1G>C;ENST00000361205:exon4:c.181+1G>C;ENST00000399848:exon4:c.181+1G>C;ENST00000359446:exon3:c.181+1G>C)	.	.	0.999981760802075	0.938
18	13438384	G	T	18	13438385	y	y	splicing	LDLRAD4(NM_181482:exon4:c.181+1G>T;NM_181481:exon3:c.181+1G>T)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.181+1G>T;ENST00000361205:exon4:c.181+1G>T;ENST00000399848:exon4:c.181+1G>T;ENST00000359446:exon3:c.181+1G>T)	.	.	0.999981760802075	0.938
18	13438385	T	A	18	13438386	y	y	splicing	LDLRAD4(NM_181482:exon4:c.181+2T>A;NM_181481:exon3:c.181+2T>A)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.181+2T>A;ENST00000361205:exon4:c.181+2T>A;ENST00000399848:exon4:c.181+2T>A;ENST00000359446:exon3:c.181+2T>A)	.	.	0.999989917668626	0.928
18	13438385	T	C	18	13438386	y	y	splicing	LDLRAD4(NM_181482:exon4:c.181+2T>C;NM_181481:exon3:c.181+2T>C)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.181+2T>C;ENST00000361205:exon4:c.181+2T>C;ENST00000399848:exon4:c.181+2T>C;ENST00000359446:exon3:c.181+2T>C)	.	.	0.993179459523591	0.642
18	13438385	T	G	18	13438386	y	y	splicing	LDLRAD4(NM_181482:exon4:c.181+2T>G;NM_181481:exon3:c.181+2T>G)	.	.	splicing	ENSG00000168675(ENST00000587905:exon4:c.181+2T>G;ENST00000361205:exon4:c.181+2T>G;ENST00000399848:exon4:c.181+2T>G;ENST00000359446:exon3:c.181+2T>G)	.	.	0.999989917668626	0.928
18	13438386	A	C	18	13438387	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999874779346605	0.92
18	13438386	A	G	18	13438387	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.075647505311174	0.324
18	13438386	A	T	18	13438387	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999874779346605	0.964
18	13438387	A	C	18	13438388	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.997783579369684	0.898
18	13438387	A	G	18	13438388	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.998386197714366	0.992
18	13438387	A	T	18	13438388	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.998798102880593	0.936
18	13438388	G	A	18	13438389	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999956941176677	1.0
18	13438388	G	C	18	13438389	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999596158220622	0.978
18	13438388	G	T	18	13438389	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999956941176677	0.998
18	13438389	T	A	18	13438390	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.99337527761043	0.818
18	13438389	T	C	18	13438390	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.995721006139648	0.924
18	13438389	T	G	18	13438390	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.998528382216244	0.954
18	13438390	C	A	18	13438391	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.66217413225017E-5	0.0
18	13438390	C	G	18	13438391	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.22536708350932E-5	0.0
18	13438390	C	T	18	13438391	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.66217413225017E-5	0.004
18	13438391	T	A	18	13438392	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.11994965294305E-4	0.0
18	13438391	T	C	18	13438392	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.79235161561405E-5	0.0
18	13438391	T	G	18	13438392	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.33306724291177E-5	0.0
18	13465108	T	A	18	13465109	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	6.35428655471156E-5	0.002
18	13465108	T	C	18	13465109	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	8.49702646665041E-5	0.006
18	13465108	T	G	18	13465109	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	8.49702646665041E-5	0.006
18	13465109	T	A	18	13465110	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	8.45437244328479E-5	0.008
18	13465109	T	C	18	13465110	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	6.27477746119029E-5	0.0
18	13465109	T	G	18	13465110	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	6.27477746119029E-5	0.0
18	13465110	A	C	18	13465111	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	1.12708559664017E-4	0.0
18	13465110	A	G	18	13465111	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	9.68632724264029E-5	0.0
18	13465110	A	T	18	13465111	n	y	intronic	LDLRAD4	.	.	ncRNA_UTR5	ENSG00000168675	.	.	1.5857813890148E-4	0.0
18	13465111	G	A	18	13465112	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.37350275502117E-4	0.072
18	13465111	G	C	18	13465112	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.19410586603905E-4	0.072
18	13465111	G	T	18	13465112	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.71618820040792E-4	0.072
18	13465112	T	A	18	13465113	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	2.11773665242992E-4	0.002
18	13465112	T	C	18	13465113	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.5857813890148E-4	0.002
18	13465112	T	G	18	13465113	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.5857813890148E-4	0.002
18	13465113	A	C	18	13465114	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	1.5857813890148E-4	0.002
18	13465113	A	G	18	13465114	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	1.5857813890148E-4	0.002
18	13465113	A	T	18	13465114	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	2.11773665242992E-4	0.004
18	13465114	A	C	18	13465115	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	2.12196402286868E-4	0.016
18	13465114	A	G	18	13465115	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	2.12196402286868E-4	0.016
18	13465114	A	T	18	13465115	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	2.98542968807727E-4	0.016
18	13465115	G	A	18	13465116	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	9.27237026149931E-5	0.002
18	13465115	G	C	18	13465116	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	9.27237026149931E-5	0.002
18	13465115	G	T	18	13465116	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	9.27237026149931E-5	0.002
18	13465116	T	A	18	13465117	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	7.48293208623238E-5	0.0
18	13465116	T	C	18	13465117	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	7.48293208623238E-5	0.0
18	13465116	T	G	18	13465117	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	7.48293208623238E-5	0.0
18	13465117	A	C	18	13465118	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	2.98542968807727E-4	0.024
18	13465117	A	G	18	13465118	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	2.98542968807727E-4	0.024
18	13465117	A	T	18	13465118	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	3.86867110297081E-4	0.024
18	13465118	T	A	18	13465119	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	7.04278140930798E-5	0.004
18	13465118	T	C	18	13465119	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	7.04278140930798E-5	0.004
18	13465118	T	G	18	13465119	n	y	intronic	LDLRAD4	.	.	ncRNA_intronic	ENSG00000267694	.	.	7.04278140930798E-5	0.004
18	13484024	C	A	18	13484025	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.53814986019981E-5	0.0
18	13484024	C	G	18	13484025	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.06850435703539E-5	0.026
18	13484024	C	T	18	13484025	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.53814986019981E-5	0.0
18	13484025	C	A	18	13484026	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.16513864069796E-5	0.002
18	13484025	C	G	18	13484026	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.16513864069796E-5	0.002
18	13484025	C	T	18	13484026	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.25721173904076E-5	0.002
18	13484026	C	A	18	13484027	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.9304389092867E-5	0.008
18	13484026	C	G	18	13484027	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.25587194415349E-5	0.008
18	13484026	C	T	18	13484027	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.9304389092867E-5	0.0
18	13484027	T	A	18	13484028	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.62366799521582E-4	0.006
18	13484027	T	C	18	13484028	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.62366799521582E-4	0.008
18	13484027	T	G	18	13484028	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.62366799521582E-4	0.008
18	13484028	C	A	18	13484029	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.95735775412773E-5	0.002
18	13484028	C	G	18	13484029	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.95735775412773E-5	0.002
18	13484028	C	T	18	13484029	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.95735775412773E-5	0.002
18	13484029	C	A	18	13484030	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.31929338280547E-5	0.0
18	13484029	C	G	18	13484030	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13484029	C	T	18	13484030	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.31929338280547E-5	0.004
18	13484030	A	C	18	13484031	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.24642887656211E-5	0.01
18	13484030	A	G	18	13484031	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.59579607686457E-5	0.008
18	13484030	A	T	18	13484031	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.24642887656211E-5	0.008
18	13484031	T	A	18	13484032	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.41782489535009E-5	0.002
18	13484031	T	C	18	13484032	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.41782489535009E-5	0.002
18	13484031	T	G	18	13484032	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.41782489535009E-5	0.002
18	13484032	C	A	18	13484033	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.57607375837078E-5	0.006
18	13484032	C	G	18	13484033	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.57607375837078E-5	0.008
18	13484032	C	T	18	13484033	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.57607375837078E-5	0.008
18	13484033	C	A	18	13484034	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.48367148474546E-5	0.0
18	13484033	C	G	18	13484034	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.37501361942679E-5	0.002
18	13484033	C	T	18	13484034	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.09082759739449E-5	0.006
18	13484034	A	C	18	13484035	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.38294415292276E-5	0.002
18	13484034	A	G	18	13484035	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.38294415292276E-5	0.002
18	13484034	A	T	18	13484035	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.49222870438432E-5	0.004
18	13484035	G	A	18	13484036	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.57607375837078E-5	0.006
18	13484035	G	C	18	13484036	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.92786444512075E-5	0.004
18	13484035	G	T	18	13484036	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.57607375837078E-5	0.006
18	13484036	G	A	18	13484037	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13484036	G	C	18	13484037	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13484036	G	T	18	13484037	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13484037	G	A	18	13484038	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.48367148474546E-5	0.0
18	13484037	G	C	18	13484038	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.37501361942679E-5	0.002
18	13484037	G	T	18	13484038	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.37501361942679E-5	0.002
18	13484116	A	C	18	13484117	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.92337711406789E-5	0.016
18	13484116	A	G	18	13484117	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.24642887656211E-5	0.07
18	13484116	A	T	18	13484117	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.92337711406789E-5	0.002
18	13484117	T	A	18	13484118	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	2.18154394036611E-4	0.012
18	13484117	T	C	18	13484118	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.20034981273023E-4	0.016
18	13484117	T	G	18	13484118	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.20034981273023E-4	0.016
18	13484118	G	A	18	13484119	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	7.1596750044127E-4	0.048
18	13484118	G	C	18	13484119	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	9.57189534154606E-4	0.07
18	13484118	G	T	18	13484119	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	9.57189534154606E-4	0.096
18	13484119	G	A	18	13484120	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.25690374419159E-4	0.008
18	13484119	G	C	18	13484120	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.08802802279601E-5	0.0
18	13484119	G	T	18	13484120	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	6.6236404416856E-5	0.02
18	13484120	T	A	18	13484121	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	3.36854806169958E-4	0.03
18	13484120	T	C	18	13484121	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.85357346674797E-4	0.026
18	13484120	T	G	18	13484121	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.85357346674797E-4	0.026
18	13484121	A	C	18	13484122	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.49222870438432E-5	0.006
18	13484121	A	G	18	13484122	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.49222870438432E-5	0.006
18	13484121	A	T	18	13484122	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.46145129905374E-5	0.008
18	13484122	A	C	18	13484123	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.85485922524241E-5	0.008
18	13484122	A	G	18	13484123	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.85485922524241E-5	0.01
18	13484122	A	T	18	13484123	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.85485922524241E-5	0.008
18	13484123	G	A	18	13484124	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.57607375837078E-5	0.008
18	13484123	G	C	18	13484124	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.92786444512075E-5	0.002
18	13484123	G	T	18	13484124	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.92786444512075E-5	0.004
18	13484124	A	C	18	13484125	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.23210739534814E-6	0.002
18	13484124	A	G	18	13484125	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.23210739534814E-6	0.002
18	13484124	A	T	18	13484125	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.88263807367426E-6	0.002
18	13484125	C	A	18	13484126	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.78667633506325E-5	0.002
18	13484125	C	G	18	13484126	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.78667633506325E-5	0.002
18	13484125	C	T	18	13484126	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.92786444512075E-5	0.002
18	13484126	T	A	18	13484127	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.31929338280547E-5	0.002
18	13484126	T	C	18	13484127	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13484126	T	G	18	13484127	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13491219	G	A	18	13491220	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.30338091304305E-5	0.002
18	13491219	G	C	18	13491220	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.30338091304305E-5	0.002
18	13491219	G	T	18	13491220	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.30338091304305E-5	0.002
18	13491220	T	A	18	13491221	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.78205327723092E-5	0.022
18	13491220	T	C	18	13491221	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.78205327723092E-5	0.006
18	13491220	T	G	18	13491221	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.78205327723092E-5	0.006
18	13491221	C	A	18	13491222	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.72760553213487E-5	0.0
18	13491221	C	G	18	13491222	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.09828708177445E-5	0.0
18	13491221	C	T	18	13491222	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.72760553213487E-5	0.0
18	13491222	C	A	18	13491223	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.20862408805592E-5	0.016
18	13491222	C	G	18	13491223	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.20862408805592E-5	0.016
18	13491222	C	T	18	13491223	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.20862408805592E-5	0.02
18	13491223	A	C	18	13491224	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.33984070840462E-5	0.0
18	13491223	A	G	18	13491224	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.33984070840462E-5	0.0
18	13491223	A	T	18	13491224	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.44571914076258E-5	0.004
18	13491224	C	A	18	13491225	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.34280463342776E-4	0.01
18	13491224	C	G	18	13491225	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.34280463342776E-4	0.008
18	13491224	C	T	18	13491225	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.34280463342776E-4	0.012
18	13491225	C	A	18	13491226	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.08523521497565E-5	0.002
18	13491225	C	G	18	13491226	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.08523521497565E-5	0.0
18	13491225	C	T	18	13491226	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.08523521497565E-5	0.03
18	13491226	T	A	18	13491227	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.21557472225283E-5	0.0
18	13491226	T	C	18	13491227	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.29994972594758E-5	0.01
18	13491226	T	G	18	13491227	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.29994972594758E-5	0.022
18	13491227	G	A	18	13491228	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.45277156108894E-5	0.0
18	13491227	G	C	18	13491228	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.45277156108894E-5	0.0
18	13491227	G	T	18	13491228	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.45277156108894E-5	0.0
18	13491228	C	A	18	13491229	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13491228	C	G	18	13491229	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13491228	C	T	18	13491229	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13491229	A	C	18	13491230	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.29994972594758E-5	0.006
18	13491229	A	G	18	13491230	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.29994972594758E-5	0.006
18	13491229	A	T	18	13491230	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	4.29994972594758E-5	0.024
18	13491230	G	A	18	13491231	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	3.73881615842316E-5	0.008
18	13491230	G	C	18	13491231	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	3.73881615842316E-5	0.006
18	13491230	G	T	18	13491231	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	3.73881615842316E-5	0.006
18	13491231	G	A	18	13491232	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	9.72760553213487E-5	0.002
18	13491231	G	C	18	13491232	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	9.72760553213487E-5	0.002
18	13491231	G	T	18	13491232	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	9.72760553213487E-5	0.0
18	13491232	G	A	18	13491233	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.84449517638164E-5	0.048
18	13491232	G	C	18	13491233	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.84449517638164E-5	0.02
18	13491232	G	T	18	13491233	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.84449517638164E-5	0.02
18	13491466	T	A	18	13491467	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491466	T	C	18	13491467	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491466	T	G	18	13491467	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491467	G	A	18	13491468	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.52932449848953E-5	0.012
18	13491467	G	C	18	13491468	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	6.05670308788612E-5	0.006
18	13491467	G	T	18	13491468	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	6.05670308788612E-5	0.018
18	13491468	A	C	18	13491469	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491468	A	G	18	13491469	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491468	A	T	18	13491469	n	y	intronic	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491469	G	A	18	13491470	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	3.29172098833992E-5	0.01
18	13491469	G	C	18	13491470	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	3.29172098833992E-5	0.01
18	13491469	G	T	18	13491470	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	3.29172098833992E-5	0.01
18	13491470	T	A	18	13491471	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491470	T	C	18	13491471	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491470	T	G	18	13491471	n	y	intronic	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491471	G	A	18	13491472	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.64259127652368E-5	0.006
18	13491471	G	C	18	13491472	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.37582853480714E-5	0.0
18	13491471	G	T	18	13491472	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.64259127652368E-5	0.0
18	13491472	A	C	18	13491473	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.74359842730815E-4	0.002
18	13491472	A	G	18	13491473	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.74359842730815E-4	0.006
18	13491472	A	T	18	13491473	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.74359842730815E-4	0.0
18	13491473	G	A	18	13491474	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.05670308788612E-5	0.028
18	13491473	G	C	18	13491474	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.05670308788612E-5	0.006
18	13491473	G	T	18	13491474	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.05670308788612E-5	0.006
18	13491474	A	C	18	13491475	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.78205327723092E-5	0.004
18	13491474	A	G	18	13491475	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.78205327723092E-5	0.004
18	13491474	A	T	18	13491475	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.78205327723092E-5	0.02
18	13491475	A	C	18	13491476	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.45277156108894E-5	0.0
18	13491475	A	G	18	13491476	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.45277156108894E-5	0.0
18	13491475	A	T	18	13491476	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.78864525412067E-5	0.0
18	13491476	T	A	18	13491477	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.35623326617809E-5	0.0
18	13491476	T	C	18	13491477	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.35623326617809E-5	0.004
18	13491476	T	G	18	13491477	n	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.35623326617809E-5	0.004
18	13612061	T	A	18	13612062	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00157480587162464	0.06
18	13612061	T	C	18	13612062	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00157480587162464	0.016
18	13612061	T	G	18	13612062	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00157480587162464	0.016
18	13612062	T	A	18	13612063	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.05808194911997E-5	0.008
18	13612062	T	C	18	13612063	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.05808194911997E-5	0.002
18	13612062	T	G	18	13612063	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.05808194911997E-5	0.002
18	13612063	G	A	18	13612064	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	9.38651049164659E-4	0.006
18	13612063	G	C	18	13612064	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	7.91836965572762E-4	0.006
18	13612063	G	T	18	13612064	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	7.91836965572762E-4	0.004
18	13612064	G	A	18	13612065	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	9.38651049164659E-4	0.01
18	13612064	G	C	18	13612065	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	7.91836965572762E-4	0.004
18	13612064	G	T	18	13612065	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	9.38651049164659E-4	0.006
18	13612065	T	A	18	13612066	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.35938417671351E-4	0.012
18	13612065	T	C	18	13612066	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.00961143325455E-4	0.01
18	13612065	T	G	18	13612066	y	y	splicing	LDLRAD4	.	.	splicing	ENSG00000168675	.	.	1.38175242962214E-4	0.012
18	13612066	A	C	18	13612067	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.99982345019472E-5	0.002
18	13612066	A	G	18	13612067	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.99982345019472E-5	0.0
18	13612066	A	T	18	13612067	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	3.99982345019472E-5	0.0
18	13612067	A	C	18	13612068	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00157480587162464	0.016
18	13612067	A	G	18	13612068	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00157480587162464	0.018
18	13612067	A	T	18	13612068	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00232869313350842	0.018
18	13612068	G	A	18	13612069	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00342156778719506	0.028
18	13612068	G	C	18	13612069	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00240180674168064	0.024
18	13612068	G	T	18	13612069	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	0.00347768060080762	0.024
18	13612069	C	A	18	13612070	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.39331619859259E-4	0.0
18	13612069	C	G	18	13612070	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.24220057946552E-4	0.0
18	13612069	C	T	18	13612070	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.6289699032139E-4	0.0
18	13612070	G	A	18	13612071	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.05808194911997E-5	0.004
18	13612070	G	C	18	13612071	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.05808194911997E-5	0.0
18	13612070	G	T	18	13612071	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	5.05808194911997E-5	0.016
18	13612071	C	A	18	13612072	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.63906183251032E-4	0.002
18	13612071	C	G	18	13612072	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	4.63906183251032E-4	0.002
18	13612071	C	T	18	13612072	y	y	UTR5	LDLRAD4	.	.	UTR5	ENSG00000168675	.	.	7.86646176050428E-4	0.002
18	13612771	A	C	18	13612772	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001003675:exon1:c.A68C:p.K23T;LDLRAD4:NM_001003674:exon1:c.A68C:p.K23T;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.A68C:p.K23T;ENSG00000168675:ENST00000587757:exon1:c.A68C:p.K23T;	3.1877777554816E-5	0.0
18	13612771	A	G	18	13612772	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001003675:exon1:c.A68G:p.K23R;LDLRAD4:NM_001003674:exon1:c.A68G:p.K23R;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.A68G:p.K23R;ENSG00000168675:ENST00000587757:exon1:c.A68G:p.K23R;	3.1877777554816E-5	0.0
18	13612771	A	T	18	13612772	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001003675:exon1:c.A68T:p.K23I;LDLRAD4:NM_001003674:exon1:c.A68T:p.K23I;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.A68T:p.K23I;ENSG00000168675:ENST00000587757:exon1:c.A68T:p.K23I;	1.20200958252478E-4	0.0
18	13612772	A	C	18	13612773	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001003675:exon1:c.A69C:p.K23N;LDLRAD4:NM_001003674:exon1:c.A69C:p.K23N;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.A69C:p.K23N;ENSG00000168675:ENST00000587757:exon1:c.A69C:p.K23N;	0.00349211905709787	0.026
18	13612772	A	G	18	13612773	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_001003675:exon1:c.A69G:p.K23K;LDLRAD4:NM_001003674:exon1:c.A69G:p.K23K;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.A69G:p.K23K;ENSG00000168675:ENST00000587757:exon1:c.A69G:p.K23K;	0.00441569569744403	0.092
18	13612772	A	T	18	13612773	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001003675:exon1:c.A69T:p.K23N;LDLRAD4:NM_001003674:exon1:c.A69T:p.K23N;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.A69T:p.K23N;ENSG00000168675:ENST00000587757:exon1:c.A69T:p.K23N;	0.00358875693255834	0.024
18	13612773	G	A	18	13612774	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001003675:exon1:c.G70A:p.A24T;LDLRAD4:NM_001003674:exon1:c.G70A:p.A24T;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.G70A:p.A24T;ENSG00000168675:ENST00000587757:exon1:c.G70A:p.A24T;	0.612881786593351	0.732
18	13612773	G	C	18	13612774	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001003675:exon1:c.G70C:p.A24P;LDLRAD4:NM_001003674:exon1:c.G70C:p.A24P;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.G70C:p.A24P;ENSG00000168675:ENST00000587757:exon1:c.G70C:p.A24P;	0.880005902638099	0.874
18	13612773	G	T	18	13612774	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001003675:exon1:c.G70T:p.A24S;LDLRAD4:NM_001003674:exon1:c.G70T:p.A24S;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000586765:exon1:c.G70T:p.A24S;ENSG00000168675:ENST00000587757:exon1:c.G70T:p.A24S;	0.0110340114840894	0.028
18	13612774	G	A	18	13612775	y	y	splicing	LDLRAD4(NM_001003675:exon1:c.70+1G>A;NM_001003674:exon1:c.70+1G>A)	.	.	splicing	ENSG00000168675(ENST00000587757:exon1:c.70+1G>A;ENST00000586765:exon1:c.70+1G>A)	.	.	0.870125004076022	0.76
18	13612774	G	C	18	13612775	y	y	splicing	LDLRAD4(NM_001003675:exon1:c.70+1G>C;NM_001003674:exon1:c.70+1G>C)	.	.	splicing	ENSG00000168675(ENST00000587757:exon1:c.70+1G>C;ENST00000586765:exon1:c.70+1G>C)	.	.	0.850834639033293	0.74
18	13612774	G	T	18	13612775	y	y	splicing	LDLRAD4(NM_001003675:exon1:c.70+1G>T;NM_001003674:exon1:c.70+1G>T)	.	.	splicing	ENSG00000168675(ENST00000587757:exon1:c.70+1G>T;ENST00000586765:exon1:c.70+1G>T)	.	.	0.870125004076022	0.748
18	13612775	T	A	18	13612776	y	y	splicing	LDLRAD4(NM_001003675:exon1:c.70+2T>A;NM_001003674:exon1:c.70+2T>A)	.	.	splicing	ENSG00000168675(ENST00000587757:exon1:c.70+2T>A;ENST00000586765:exon1:c.70+2T>A)	.	.	0.393301914740346	0.618
18	13612775	T	C	18	13612776	y	y	splicing	LDLRAD4(NM_001003675:exon1:c.70+2T>C;NM_001003674:exon1:c.70+2T>C)	.	.	splicing	ENSG00000168675(ENST00000587757:exon1:c.70+2T>C;ENST00000586765:exon1:c.70+2T>C)	.	.	0.296884270394244	0.602
18	13612775	T	G	18	13612776	y	y	splicing	LDLRAD4(NM_001003675:exon1:c.70+2T>G;NM_001003674:exon1:c.70+2T>G)	.	.	splicing	ENSG00000168675(ENST00000587757:exon1:c.70+2T>G;ENST00000586765:exon1:c.70+2T>G)	.	.	0.296884270394244	0.602
18	13612776	A	C	18	13612777	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00349211905709787	0.026
18	13612776	A	G	18	13612777	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00349211905709787	0.026
18	13612776	A	T	18	13612777	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00358875693255834	0.024
18	13612777	C	A	18	13612778	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.04216853070732E-4	0.008
18	13612777	C	G	18	13612778	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.36567682305367E-5	0.002
18	13612777	C	T	18	13612778	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.04216853070732E-4	0.006
18	13612778	A	C	18	13612779	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.45495379120052E-4	0.002
18	13612778	A	G	18	13612779	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.45495379120052E-4	0.002
18	13612778	A	T	18	13612779	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.55453923326756E-5	0.002
18	13612779	T	A	18	13612780	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.05309614883202E-4	0.0
18	13612779	T	C	18	13612780	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.16080636402324E-4	0.0
18	13612779	T	G	18	13612780	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.16080636402324E-4	0.0
18	13612780	T	A	18	13612781	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.20200958252478E-4	0.016
18	13612780	T	C	18	13612781	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.2331471065878E-4	0.0
18	13612780	T	G	18	13612781	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.2331471065878E-4	0.0
18	13612781	T	A	18	13612782	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.67378569920084E-5	0.038
18	13612781	T	C	18	13612782	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.67378569920084E-5	0.038
18	13612781	T	G	18	13612782	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.67378569920084E-5	0.038
18	13621104	C	A	18	13621105	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.71554480116888E-4	0.014
18	13621104	C	G	18	13621105	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.75634579065752E-4	0.03
18	13621104	C	T	18	13621105	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.68879409084043E-5	0.0
18	13621105	T	A	18	13621106	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.176460984503395	0.418
18	13621105	T	C	18	13621106	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00716045644932205	0.182
18	13621105	T	G	18	13621106	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.201308699647862	0.502
18	13621106	T	A	18	13621107	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00245727538381256	0.144
18	13621106	T	C	18	13621107	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.49737508920478E-4	0.012
18	13621106	T	G	18	13621107	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.0214978880946713	0.188
18	13621107	C	A	18	13621108	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.34157452133053E-4	0.058
18	13621107	C	G	18	13621108	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.67860553739771E-4	0.076
18	13621107	C	T	18	13621108	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.95746919550635E-5	0.0
18	13621108	C	A	18	13621109	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.17533782167822E-4	0.096
18	13621108	C	G	18	13621109	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00144632953846278	0.046
18	13621108	C	T	18	13621109	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.48799423717401E-5	0.0
18	13621109	A	C	18	13621110	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.17383865841375E-5	0.034
18	13621109	A	G	18	13621110	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.50248886213366E-5	0.0
18	13621109	A	T	18	13621110	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.41516498114287E-5	0.004
18	13621110	T	A	18	13621111	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999415172769179	0.84
18	13621110	T	C	18	13621111	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.87585595425363E-4	0.166
18	13621110	T	G	18	13621111	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.996221841176429	0.812
18	13621111	G	A	18	13621112	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.587272690491855	0.586
18	13621111	G	C	18	13621112	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.23605179526905E-5	0.136
18	13621111	G	T	18	13621112	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.78469094570084E-5	0.112
18	13621112	G	A	18	13621113	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.02752253688574E-4	0.004
18	13621112	G	C	18	13621113	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.85941811715732E-5	0.01
18	13621112	G	T	18	13621113	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.56215403273347E-4	0.014
18	13621113	C	A	18	13621114	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999779440750179	0.932
18	13621113	C	G	18	13621114	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999961995830883	0.944
18	13621113	C	T	18	13621114	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.996717133777344	0.442
18	13621114	A	C	18	13621115	y	y	splicing	LDLRAD4(NM_181482:exon5:c.182-2A>C;NM_181481:exon4:c.182-2A>C;NM_001003675:exon2:c.71-2A>C;NM_001003674:exon2:c.71-2A>C)	.	.	splicing	ENSG00000168675(ENST00000587905:exon5:c.182-2A>C;ENST00000361205:exon5:c.182-2A>C;ENST00000399848:exon5:c.182-2A>C;ENST00000359446:exon4:c.182-2A>C;ENST00000587757:exon2:c.71-2A>C;ENST00000586765:exon2:c.71-2A>C)	.	.	0.999986741007567	0.944
18	13621114	A	G	18	13621115	y	y	splicing	LDLRAD4(NM_181482:exon5:c.182-2A>G;NM_181481:exon4:c.182-2A>G;NM_001003675:exon2:c.71-2A>G;NM_001003674:exon2:c.71-2A>G)	.	.	splicing	ENSG00000168675(ENST00000587905:exon5:c.182-2A>G;ENST00000361205:exon5:c.182-2A>G;ENST00000399848:exon5:c.182-2A>G;ENST00000359446:exon4:c.182-2A>G;ENST00000587757:exon2:c.71-2A>G;ENST00000586765:exon2:c.71-2A>G)	.	.	0.999986741007567	0.944
18	13621114	A	T	18	13621115	y	y	splicing	LDLRAD4(NM_181482:exon5:c.182-2A>T;NM_181481:exon4:c.182-2A>T;NM_001003675:exon2:c.71-2A>T;NM_001003674:exon2:c.71-2A>T)	.	.	splicing	ENSG00000168675(ENST00000587905:exon5:c.182-2A>T;ENST00000361205:exon5:c.182-2A>T;ENST00000399848:exon5:c.182-2A>T;ENST00000359446:exon4:c.182-2A>T;ENST00000587757:exon2:c.71-2A>T;ENST00000586765:exon2:c.71-2A>T)	.	.	0.999986741007567	0.944
18	13621115	G	A	18	13621116	y	y	splicing	LDLRAD4(NM_181482:exon5:c.182-1G>A;NM_181481:exon4:c.182-1G>A;NM_001003675:exon2:c.71-1G>A;NM_001003674:exon2:c.71-1G>A)	.	.	splicing	ENSG00000168675(ENST00000587905:exon5:c.182-1G>A;ENST00000361205:exon5:c.182-1G>A;ENST00000399848:exon5:c.182-1G>A;ENST00000359446:exon4:c.182-1G>A;ENST00000587757:exon2:c.71-1G>A;ENST00000586765:exon2:c.71-1G>A)	.	.	0.999983677848485	0.942
18	13621115	G	C	18	13621116	y	y	splicing	LDLRAD4(NM_181482:exon5:c.182-1G>C;NM_181481:exon4:c.182-1G>C;NM_001003675:exon2:c.71-1G>C;NM_001003674:exon2:c.71-1G>C)	.	.	splicing	ENSG00000168675(ENST00000587905:exon5:c.182-1G>C;ENST00000361205:exon5:c.182-1G>C;ENST00000399848:exon5:c.182-1G>C;ENST00000359446:exon4:c.182-1G>C;ENST00000587757:exon2:c.71-1G>C;ENST00000586765:exon2:c.71-1G>C)	.	.	0.999983677848485	0.942
18	13621115	G	T	18	13621116	y	y	splicing	LDLRAD4(NM_181482:exon5:c.182-1G>T;NM_181481:exon4:c.182-1G>T;NM_001003675:exon2:c.71-1G>T;NM_001003674:exon2:c.71-1G>T)	.	.	splicing	ENSG00000168675(ENST00000587905:exon5:c.182-1G>T;ENST00000361205:exon5:c.182-1G>T;ENST00000399848:exon5:c.182-1G>T;ENST00000359446:exon4:c.182-1G>T;ENST00000587757:exon2:c.71-1G>T;ENST00000586765:exon2:c.71-1G>T)	.	.	0.999983677848485	0.942
18	13621116	C	A	18	13621117	y	y	exonic	LDLRAD4	stopgain SNV	LDLRAD4:NM_181481:exon4:c.C182A:p.S61X;LDLRAD4:NM_181482:exon5:c.C182A:p.S61X;	exonic	ENSG00000168675	stopgain SNV	ENSG00000168675:ENST00000587905:exon5:c.C182A:p.S61X;ENSG00000168675:ENST00000361205:exon5:c.C182A:p.S61X;ENSG00000168675:ENST00000359446:exon4:c.C182A:p.S61X;ENSG00000168675:ENST00000399848:exon5:c.C182A:p.S61X;	0.961181606389058	0.808
18	13621116	C	G	18	13621117	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.C182G:p.S61W;LDLRAD4:NM_001003675:exon2:c.C71G:p.A24G;LDLRAD4:NM_181482:exon5:c.C182G:p.S61W;LDLRAD4:NM_001003674:exon2:c.C71G:p.A24G;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon5:c.C182G:p.S61W;ENSG00000168675:ENST00000361205:exon5:c.C182G:p.S61W;ENSG00000168675:ENST00000586765:exon2:c.C71G:p.A24G;ENSG00000168675:ENST00000587757:exon2:c.C71G:p.A24G;ENSG00000168675:ENST00000359446:exon4:c.C182G:p.S61W;ENSG00000168675:ENST00000399848:exon5:c.C182G:p.S61W;	0.948859352694349	0.734
18	13621116	C	T	18	13621117	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.C182T:p.S61L;LDLRAD4:NM_001003675:exon2:c.C71T:p.A24V;LDLRAD4:NM_181482:exon5:c.C182T:p.S61L;LDLRAD4:NM_001003674:exon2:c.C71T:p.A24V;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000587905:exon5:c.C182T:p.S61L;ENSG00000168675:ENST00000361205:exon5:c.C182T:p.S61L;ENSG00000168675:ENST00000586765:exon2:c.C71T:p.A24V;ENSG00000168675:ENST00000587757:exon2:c.C71T:p.A24V;ENSG00000168675:ENST00000359446:exon4:c.C182T:p.S61L;ENSG00000168675:ENST00000399848:exon5:c.C182T:p.S61L;	0.994968799752929	0.874
18	13621117	G	A	18	13621118	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon4:c.G183A:p.S61S;LDLRAD4:NM_001003675:exon2:c.G72A:p.A24A;LDLRAD4:NM_181482:exon5:c.G183A:p.S61S;LDLRAD4:NM_001003674:exon2:c.G72A:p.A24A;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000587905:exon5:c.G183A:p.S61S;ENSG00000168675:ENST00000361205:exon5:c.G183A:p.S61S;ENSG00000168675:ENST00000586765:exon2:c.G72A:p.A24A;ENSG00000168675:ENST00000587757:exon2:c.G72A:p.A24A;ENSG00000168675:ENST00000359446:exon4:c.G183A:p.S61S;ENSG00000168675:ENST00000399848:exon5:c.G183A:p.S61S;	9.86486387348692E-4	0.052
18	13621117	G	C	18	13621118	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon4:c.G183C:p.S61S;LDLRAD4:NM_001003675:exon2:c.G72C:p.A24A;LDLRAD4:NM_181482:exon5:c.G183C:p.S61S;LDLRAD4:NM_001003674:exon2:c.G72C:p.A24A;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000587905:exon5:c.G183C:p.S61S;ENSG00000168675:ENST00000361205:exon5:c.G183C:p.S61S;ENSG00000168675:ENST00000586765:exon2:c.G72C:p.A24A;ENSG00000168675:ENST00000587757:exon2:c.G72C:p.A24A;ENSG00000168675:ENST00000359446:exon4:c.G183C:p.S61S;ENSG00000168675:ENST00000399848:exon5:c.G183C:p.S61S;	1.95872864687142E-4	0.016
18	13621117	G	T	18	13621118	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon4:c.G183T:p.S61S;LDLRAD4:NM_001003675:exon2:c.G72T:p.A24A;LDLRAD4:NM_181482:exon5:c.G183T:p.S61S;LDLRAD4:NM_001003674:exon2:c.G72T:p.A24A;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000587905:exon5:c.G183T:p.S61S;ENSG00000168675:ENST00000361205:exon5:c.G183T:p.S61S;ENSG00000168675:ENST00000586765:exon2:c.G72T:p.A24A;ENSG00000168675:ENST00000587757:exon2:c.G72T:p.A24A;ENSG00000168675:ENST00000359446:exon4:c.G183T:p.S61S;ENSG00000168675:ENST00000399848:exon5:c.G183T:p.S61S;	2.39829324337596E-4	0.006
18	13621268	C	A	18	13621269	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.C334A:p.Q112K;LDLRAD4:NM_001003675:exon2:c.C223A:p.Q75K;LDLRAD4:NM_001276249:exon2:c.C103A:p.Q35K;LDLRAD4:NM_181482:exon5:c.C334A:p.Q112K;LDLRAD4:NM_001003674:exon2:c.C223A:p.Q75K;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon5:c.C334A:p.Q112K;ENSG00000168675:ENST00000586765:exon2:c.C223A:p.Q75K;ENSG00000168675:ENST00000585931:exon2:c.C103A:p.Q35K;ENSG00000168675:ENST00000587757:exon2:c.C223A:p.Q75K;ENSG00000168675:ENST00000359446:exon4:c.C334A:p.Q112K;ENSG00000168675:ENST00000399848:exon5:c.C334A:p.Q112K;	0.916015154731279	0.752
18	13621268	C	G	18	13621269	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.C334G:p.Q112E;LDLRAD4:NM_001003675:exon2:c.C223G:p.Q75E;LDLRAD4:NM_001276249:exon2:c.C103G:p.Q35E;LDLRAD4:NM_181482:exon5:c.C334G:p.Q112E;LDLRAD4:NM_001003674:exon2:c.C223G:p.Q75E;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon5:c.C334G:p.Q112E;ENSG00000168675:ENST00000586765:exon2:c.C223G:p.Q75E;ENSG00000168675:ENST00000585931:exon2:c.C103G:p.Q35E;ENSG00000168675:ENST00000587757:exon2:c.C223G:p.Q75E;ENSG00000168675:ENST00000359446:exon4:c.C334G:p.Q112E;ENSG00000168675:ENST00000399848:exon5:c.C334G:p.Q112E;	0.862122594326539	0.556
18	13621268	C	T	18	13621269	y	y	exonic	LDLRAD4	stopgain SNV	LDLRAD4:NM_181481:exon4:c.C334T:p.Q112X;LDLRAD4:NM_001003675:exon2:c.C223T:p.Q75X;LDLRAD4:NM_001276249:exon2:c.C103T:p.Q35X;LDLRAD4:NM_181482:exon5:c.C334T:p.Q112X;LDLRAD4:NM_001003674:exon2:c.C223T:p.Q75X;	exonic	ENSG00000168675	stopgain SNV	ENSG00000168675:ENST00000361205:exon5:c.C334T:p.Q112X;ENSG00000168675:ENST00000586765:exon2:c.C223T:p.Q75X;ENSG00000168675:ENST00000585931:exon2:c.C103T:p.Q35X;ENSG00000168675:ENST00000587757:exon2:c.C223T:p.Q75X;ENSG00000168675:ENST00000359446:exon4:c.C334T:p.Q112X;ENSG00000168675:ENST00000399848:exon5:c.C334T:p.Q112X;	0.994420796739019	0.768
18	13621269	A	C	18	13621270	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.A335C:p.Q112P;LDLRAD4:NM_001003675:exon2:c.A224C:p.Q75P;LDLRAD4:NM_001276249:exon2:c.A104C:p.Q35P;LDLRAD4:NM_181482:exon5:c.A335C:p.Q112P;LDLRAD4:NM_001003674:exon2:c.A224C:p.Q75P;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon5:c.A335C:p.Q112P;ENSG00000168675:ENST00000586765:exon2:c.A224C:p.Q75P;ENSG00000168675:ENST00000585931:exon2:c.A104C:p.Q35P;ENSG00000168675:ENST00000587757:exon2:c.A224C:p.Q75P;ENSG00000168675:ENST00000359446:exon4:c.A335C:p.Q112P;ENSG00000168675:ENST00000399848:exon5:c.A335C:p.Q112P;	0.0238901293404256	0.504
18	13621269	A	G	18	13621270	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.A335G:p.Q112R;LDLRAD4:NM_001003675:exon2:c.A224G:p.Q75R;LDLRAD4:NM_001276249:exon2:c.A104G:p.Q35R;LDLRAD4:NM_181482:exon5:c.A335G:p.Q112R;LDLRAD4:NM_001003674:exon2:c.A224G:p.Q75R;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon5:c.A335G:p.Q112R;ENSG00000168675:ENST00000586765:exon2:c.A224G:p.Q75R;ENSG00000168675:ENST00000585931:exon2:c.A104G:p.Q35R;ENSG00000168675:ENST00000587757:exon2:c.A224G:p.Q75R;ENSG00000168675:ENST00000359446:exon4:c.A335G:p.Q112R;ENSG00000168675:ENST00000399848:exon5:c.A335G:p.Q112R;	0.331225010687497	0.474
18	13621269	A	T	18	13621270	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.A335T:p.Q112L;LDLRAD4:NM_001003675:exon2:c.A224T:p.Q75L;LDLRAD4:NM_001276249:exon2:c.A104T:p.Q35L;LDLRAD4:NM_181482:exon5:c.A335T:p.Q112L;LDLRAD4:NM_001003674:exon2:c.A224T:p.Q75L;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon5:c.A335T:p.Q112L;ENSG00000168675:ENST00000586765:exon2:c.A224T:p.Q75L;ENSG00000168675:ENST00000585931:exon2:c.A104T:p.Q35L;ENSG00000168675:ENST00000587757:exon2:c.A224T:p.Q75L;ENSG00000168675:ENST00000359446:exon4:c.A335T:p.Q112L;ENSG00000168675:ENST00000399848:exon5:c.A335T:p.Q112L;	0.307053637198464	0.472
18	13621270	G	A	18	13621271	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon4:c.G336A:p.Q112Q;LDLRAD4:NM_001003675:exon2:c.G225A:p.Q75Q;LDLRAD4:NM_001276249:exon2:c.G105A:p.Q35Q;LDLRAD4:NM_181482:exon5:c.G336A:p.Q112Q;LDLRAD4:NM_001003674:exon2:c.G225A:p.Q75Q;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000361205:exon5:c.G336A:p.Q112Q;ENSG00000168675:ENST00000586765:exon2:c.G225A:p.Q75Q;ENSG00000168675:ENST00000585931:exon2:c.G105A:p.Q35Q;ENSG00000168675:ENST00000587757:exon2:c.G225A:p.Q75Q;ENSG00000168675:ENST00000359446:exon4:c.G336A:p.Q112Q;ENSG00000168675:ENST00000399848:exon5:c.G336A:p.Q112Q;	0.853835126936183	0.746
18	13621270	G	C	18	13621271	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.G336C:p.Q112H;LDLRAD4:NM_001003675:exon2:c.G225C:p.Q75H;LDLRAD4:NM_001276249:exon2:c.G105C:p.Q35H;LDLRAD4:NM_181482:exon5:c.G336C:p.Q112H;LDLRAD4:NM_001003674:exon2:c.G225C:p.Q75H;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon5:c.G336C:p.Q112H;ENSG00000168675:ENST00000586765:exon2:c.G225C:p.Q75H;ENSG00000168675:ENST00000585931:exon2:c.G105C:p.Q35H;ENSG00000168675:ENST00000587757:exon2:c.G225C:p.Q75H;ENSG00000168675:ENST00000359446:exon4:c.G336C:p.Q112H;ENSG00000168675:ENST00000399848:exon5:c.G336C:p.Q112H;	0.995818436072214	0.856
18	13621270	G	T	18	13621271	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon4:c.G336T:p.Q112H;LDLRAD4:NM_001003675:exon2:c.G225T:p.Q75H;LDLRAD4:NM_001276249:exon2:c.G105T:p.Q35H;LDLRAD4:NM_181482:exon5:c.G336T:p.Q112H;LDLRAD4:NM_001003674:exon2:c.G225T:p.Q75H;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon5:c.G336T:p.Q112H;ENSG00000168675:ENST00000586765:exon2:c.G225T:p.Q75H;ENSG00000168675:ENST00000585931:exon2:c.G105T:p.Q35H;ENSG00000168675:ENST00000587757:exon2:c.G225T:p.Q75H;ENSG00000168675:ENST00000359446:exon4:c.G336T:p.Q112H;ENSG00000168675:ENST00000399848:exon5:c.G336T:p.Q112H;	0.989699190028132	0.85
18	13621271	G	A	18	13621272	y	y	splicing	LDLRAD4(NM_181482:exon5:c.336+1G>A;NM_181481:exon4:c.336+1G>A;NM_001003675:exon2:c.225+1G>A;NM_001003674:exon2:c.225+1G>A;NM_001276249:exon2:c.105+1G>A)	.	.	splicing	ENSG00000168675(ENST00000361205:exon5:c.336+1G>A;ENST00000399848:exon5:c.336+1G>A;ENST00000359446:exon4:c.336+1G>A;ENST00000587757:exon2:c.225+1G>A;ENST00000585931:exon2:c.105+1G>A;ENST00000586765:exon2:c.225+1G>A)	.	.	0.999985532734767	0.936
18	13621271	G	C	18	13621272	y	y	splicing	LDLRAD4(NM_181482:exon5:c.336+1G>C;NM_181481:exon4:c.336+1G>C;NM_001003675:exon2:c.225+1G>C;NM_001003674:exon2:c.225+1G>C;NM_001276249:exon2:c.105+1G>C)	.	.	splicing	ENSG00000168675(ENST00000361205:exon5:c.336+1G>C;ENST00000399848:exon5:c.336+1G>C;ENST00000359446:exon4:c.336+1G>C;ENST00000587757:exon2:c.225+1G>C;ENST00000585931:exon2:c.105+1G>C;ENST00000586765:exon2:c.225+1G>C)	.	.	0.999985532734767	0.936
18	13621271	G	T	18	13621272	y	y	splicing	LDLRAD4(NM_181482:exon5:c.336+1G>T;NM_181481:exon4:c.336+1G>T;NM_001003675:exon2:c.225+1G>T;NM_001003674:exon2:c.225+1G>T;NM_001276249:exon2:c.105+1G>T)	.	.	splicing	ENSG00000168675(ENST00000361205:exon5:c.336+1G>T;ENST00000399848:exon5:c.336+1G>T;ENST00000359446:exon4:c.336+1G>T;ENST00000587757:exon2:c.225+1G>T;ENST00000585931:exon2:c.105+1G>T;ENST00000586765:exon2:c.225+1G>T)	.	.	0.999985532734767	0.936
18	13621272	T	A	18	13621273	y	y	splicing	LDLRAD4(NM_181482:exon5:c.336+2T>A;NM_181481:exon4:c.336+2T>A;NM_001003675:exon2:c.225+2T>A;NM_001003674:exon2:c.225+2T>A;NM_001276249:exon2:c.105+2T>A)	.	.	splicing	ENSG00000168675(ENST00000361205:exon5:c.336+2T>A;ENST00000399848:exon5:c.336+2T>A;ENST00000359446:exon4:c.336+2T>A;ENST00000587757:exon2:c.225+2T>A;ENST00000585931:exon2:c.105+2T>A;ENST00000586765:exon2:c.225+2T>A)	.	.	0.999988247793601	0.928
18	13621272	T	C	18	13621273	y	y	splicing	LDLRAD4(NM_181482:exon5:c.336+2T>C;NM_181481:exon4:c.336+2T>C;NM_001003675:exon2:c.225+2T>C;NM_001003674:exon2:c.225+2T>C;NM_001276249:exon2:c.105+2T>C)	.	.	splicing	ENSG00000168675(ENST00000361205:exon5:c.336+2T>C;ENST00000399848:exon5:c.336+2T>C;ENST00000359446:exon4:c.336+2T>C;ENST00000587757:exon2:c.225+2T>C;ENST00000585931:exon2:c.105+2T>C;ENST00000586765:exon2:c.225+2T>C)	.	.	0.999929727175276	0.858
18	13621272	T	G	18	13621273	y	y	splicing	LDLRAD4(NM_181482:exon5:c.336+2T>G;NM_181481:exon4:c.336+2T>G;NM_001003675:exon2:c.225+2T>G;NM_001003674:exon2:c.225+2T>G;NM_001276249:exon2:c.105+2T>G)	.	.	splicing	ENSG00000168675(ENST00000361205:exon5:c.336+2T>G;ENST00000399848:exon5:c.336+2T>G;ENST00000359446:exon4:c.336+2T>G;ENST00000587757:exon2:c.225+2T>G;ENST00000585931:exon2:c.105+2T>G;ENST00000586765:exon2:c.225+2T>G)	.	.	0.999988247793601	0.928
18	13621273	G	A	18	13621274	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.49752937621622E-5	0.0
18	13621273	G	C	18	13621274	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00574506767606059	0.246
18	13621273	G	T	18	13621274	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00525478251269661	0.346
18	13621274	A	C	18	13621275	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.982724891010249	0.836
18	13621274	A	G	18	13621275	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.998545528365147	0.886
18	13621274	A	T	18	13621275	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.993098279009787	0.812
18	13621275	G	A	18	13621276	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.999604206028981	0.856
18	13621275	G	C	18	13621276	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.998700996339625	0.822
18	13621275	G	T	18	13621276	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.99895464692705	0.776
18	13621276	T	A	18	13621277	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.937170476132462	0.61
18	13621276	T	C	18	13621277	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.90475423530196	0.52
18	13621276	T	G	18	13621277	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.768322251874827	0.42
18	13621277	A	C	18	13621278	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.50285120834046E-5	0.002
18	13621277	A	G	18	13621278	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.67904176365661E-5	0.014
18	13621277	A	T	18	13621278	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.16972755144797E-5	0.01
18	13621278	C	A	18	13621279	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.33884336175553E-5	0.0
18	13621278	C	G	18	13621279	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.8776360604805E-5	0.002
18	13621278	C	T	18	13621279	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.24969046825347E-5	0.0
18	13642754	C	A	18	13642755	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001276251:exon1:c.C40A:p.Q14K;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000592991:exon1:c.C40A:p.Q14K;	1.46004206284423E-5	0.002
18	13642754	C	G	18	13642755	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001276251:exon1:c.C40G:p.Q14E;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000592991:exon1:c.C40G:p.Q14E;	1.46004206284423E-5	0.002
18	13642754	C	T	18	13642755	y	y	exonic	LDLRAD4	stopgain SNV	LDLRAD4:NM_001276251:exon1:c.C40T:p.Q14X;	exonic	ENSG00000168675	stopgain SNV	ENSG00000168675:ENST00000592991:exon1:c.C40T:p.Q14X;	1.46004206284423E-5	0.002
18	13642755	A	C	18	13642756	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001276251:exon1:c.A41C:p.Q14P;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000592991:exon1:c.A41C:p.Q14P;	1.95241758590049E-5	0.0
18	13642755	A	G	18	13642756	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001276251:exon1:c.A41G:p.Q14R;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000592991:exon1:c.A41G:p.Q14R;	1.95241758590049E-5	0.0
18	13642755	A	T	18	13642756	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001276251:exon1:c.A41T:p.Q14L;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000592991:exon1:c.A41T:p.Q14L;	3.01578748569253E-5	0.004
18	13642756	G	A	18	13642757	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_001276251:exon1:c.G42A:p.Q14Q;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000592991:exon1:c.G42A:p.Q14Q;	1.46004206284423E-5	0.002
18	13642756	G	C	18	13642757	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001276251:exon1:c.G42C:p.Q14H;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000592991:exon1:c.G42C:p.Q14H;	1.46004206284423E-5	0.002
18	13642756	G	T	18	13642757	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_001276251:exon1:c.G42T:p.Q14H;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000592991:exon1:c.G42T:p.Q14H;	1.46004206284423E-5	0.002
18	13642757	G	A	18	13642758	y	y	splicing	LDLRAD4(NM_001276251:exon1:c.42+1G>A)	.	.	splicing	ENSG00000168675(ENST00000592991:exon1:c.42+1G>A)	.	.	2.32510510707312E-5	0.0
18	13642757	G	C	18	13642758	y	y	splicing	LDLRAD4(NM_001276251:exon1:c.42+1G>C)	.	.	splicing	ENSG00000168675(ENST00000592991:exon1:c.42+1G>C)	.	.	2.1548255067557E-5	0.0
18	13642757	G	T	18	13642758	y	y	splicing	LDLRAD4(NM_001276251:exon1:c.42+1G>T)	.	.	splicing	ENSG00000168675(ENST00000592991:exon1:c.42+1G>T)	.	.	2.32510510707312E-5	0.0
18	13642758	T	A	18	13642759	y	y	splicing	LDLRAD4(NM_001276251:exon1:c.42+2T>A)	.	.	splicing	ENSG00000168675(ENST00000592991:exon1:c.42+2T>A)	.	.	1.80274866394675E-5	0.0
18	13642758	T	C	18	13642759	y	y	splicing	LDLRAD4(NM_001276251:exon1:c.42+2T>C)	.	.	splicing	ENSG00000168675(ENST00000592991:exon1:c.42+2T>C)	.	.	1.80274866394675E-5	0.0
18	13642758	T	G	18	13642759	y	y	splicing	LDLRAD4(NM_001276251:exon1:c.42+2T>G)	.	.	splicing	ENSG00000168675(ENST00000592991:exon1:c.42+2T>G)	.	.	1.80274866394675E-5	0.0
18	13642759	G	A	18	13642760	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.57076726553018E-5	0.0
18	13642759	G	C	18	13642760	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.7749166663215E-5	0.0
18	13642759	G	T	18	13642760	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.7749166663215E-5	0.004
18	13642760	T	A	18	13642761	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.27663100932972E-5	0.0
18	13642760	T	C	18	13642761	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.80274866394675E-5	0.0
18	13642760	T	G	18	13642761	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.80274866394675E-5	0.004
18	13642761	A	C	18	13642762	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.47039489069415E-5	0.004
18	13642761	A	G	18	13642762	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.47039489069415E-5	0.004
18	13642761	A	T	18	13642762	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.552751562108E-5	0.004
18	13642762	G	A	18	13642763	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.31929338280547E-5	0.002
18	13642762	G	C	18	13642763	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.07620641825897E-5	0.0
18	13642762	G	T	18	13642763	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.31929338280547E-5	0.0
18	13642763	A	C	18	13642764	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.89925739660516E-5	0.004
18	13642763	A	G	18	13642764	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.89925739660516E-5	0.006
18	13642763	A	T	18	13642764	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.89925739660516E-5	0.004
18	13642764	G	A	18	13642765	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.89925739660516E-5	0.004
18	13642764	G	C	18	13642765	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.31929338280547E-5	0.0
18	13642764	G	T	18	13642765	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.31929338280547E-5	0.004
18	13643346	C	A	18	13643347	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.8703588275862E-4	0.01
18	13643346	C	G	18	13643347	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.40053381145528E-4	0.006
18	13643346	C	T	18	13643347	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.31043779912406E-4	0.026
18	13643347	C	A	18	13643348	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.40940918270023E-4	0.0
18	13643347	C	G	18	13643348	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.30945796578933E-5	0.0
18	13643347	C	T	18	13643348	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.40940918270023E-4	0.0
18	13643348	C	A	18	13643349	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.01915415094021E-4	0.01
18	13643348	C	G	18	13643349	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.24346459604783E-5	0.01
18	13643348	C	T	18	13643349	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.41423800792766E-4	0.01
18	13643349	C	A	18	13643350	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.13192503172253E-5	0.0
18	13643349	C	G	18	13643350	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	5.13192503172253E-5	0.0
18	13643349	C	T	18	13643350	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.91456837906603E-5	0.006
18	13643350	T	A	18	13643351	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.23840871892611E-5	0.0
18	13643350	T	C	18	13643351	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.23840871892611E-5	0.0
18	13643350	T	G	18	13643351	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	2.23840871892611E-5	0.0
18	13643351	C	A	18	13643352	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.30945796578933E-5	0.002
18	13643351	C	G	18	13643352	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.30945796578933E-5	0.002
18	13643351	C	T	18	13643352	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	8.30945796578933E-5	0.004
18	13643352	C	A	18	13643353	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.93748849143325E-5	0.01
18	13643352	C	G	18	13643353	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.6024990347264E-5	0.002
18	13643352	C	T	18	13643353	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.93748849143325E-5	0.0
18	13643353	G	A	18	13643354	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.70337218186484E-5	0.0
18	13643353	G	C	18	13643354	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.10275622159801E-5	0.0
18	13643353	G	T	18	13643354	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	1.70337218186484E-5	0.0
18	13643354	C	A	18	13643355	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.58461283867531E-5	0.01
18	13643354	C	G	18	13643355	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.58461283867531E-5	0.012
18	13643354	C	T	18	13643355	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.58461283867531E-5	0.01
18	13643355	C	A	18	13643356	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.39331619859259E-4	0.0
18	13643355	C	G	18	13643356	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.30643098835705E-4	0.0
18	13643355	C	T	18	13643356	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.39331619859259E-4	0.0
18	13643356	A	C	18	13643357	y	y	splicing	LDLRAD4(NM_181481:exon5:c.337-2A>C;NM_001003674:exon3:c.226-2A>C;NM_001276249:exon3:c.106-2A>C;NM_001276251:exon2:c.43-2A>C)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.337-2A>C;ENST00000359446:exon5:c.337-2A>C;ENST00000587757:exon3:c.226-2A>C;ENST00000585931:exon3:c.106-2A>C;ENST00000592991:exon2:c.43-2A>C)	.	.	0.784522596134489	0.75
18	13643356	A	G	18	13643357	y	y	splicing	LDLRAD4(NM_181481:exon5:c.337-2A>G;NM_001003674:exon3:c.226-2A>G;NM_001276249:exon3:c.106-2A>G;NM_001276251:exon2:c.43-2A>G)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.337-2A>G;ENST00000359446:exon5:c.337-2A>G;ENST00000587757:exon3:c.226-2A>G;ENST00000585931:exon3:c.106-2A>G;ENST00000592991:exon2:c.43-2A>G)	.	.	0.784522596134489	0.752
18	13643356	A	T	18	13643357	y	y	splicing	LDLRAD4(NM_181481:exon5:c.337-2A>T;NM_001003674:exon3:c.226-2A>T;NM_001276249:exon3:c.106-2A>T;NM_001276251:exon2:c.43-2A>T)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.337-2A>T;ENST00000359446:exon5:c.337-2A>T;ENST00000587757:exon3:c.226-2A>T;ENST00000585931:exon3:c.106-2A>T;ENST00000592991:exon2:c.43-2A>T)	.	.	0.784522596134489	0.736
18	13643357	G	A	18	13643358	y	y	splicing	LDLRAD4(NM_181481:exon5:c.337-1G>A;NM_001003674:exon3:c.226-1G>A;NM_001276249:exon3:c.106-1G>A;NM_001276251:exon2:c.43-1G>A)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.337-1G>A;ENST00000359446:exon5:c.337-1G>A;ENST00000587757:exon3:c.226-1G>A;ENST00000585931:exon3:c.106-1G>A;ENST00000592991:exon2:c.43-1G>A)	.	.	0.990340197002274	0.894
18	13643357	G	C	18	13643358	y	y	splicing	LDLRAD4(NM_181481:exon5:c.337-1G>C;NM_001003674:exon3:c.226-1G>C;NM_001276249:exon3:c.106-1G>C;NM_001276251:exon2:c.43-1G>C)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.337-1G>C;ENST00000359446:exon5:c.337-1G>C;ENST00000587757:exon3:c.226-1G>C;ENST00000585931:exon3:c.106-1G>C;ENST00000592991:exon2:c.43-1G>C)	.	.	0.990340197002274	0.876
18	13643357	G	T	18	13643358	y	y	splicing	LDLRAD4(NM_181481:exon5:c.337-1G>T;NM_001003674:exon3:c.226-1G>T;NM_001276249:exon3:c.106-1G>T;NM_001276251:exon2:c.43-1G>T)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.337-1G>T;ENST00000359446:exon5:c.337-1G>T;ENST00000587757:exon3:c.226-1G>T;ENST00000585931:exon3:c.106-1G>T;ENST00000592991:exon2:c.43-1G>T)	.	.	0.990340197002274	0.876
18	13643358	G	A	18	13643359	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.G337A:p.E113K;LDLRAD4:NM_001276249:exon3:c.G106A:p.E36K;LDLRAD4:NM_001276251:exon2:c.G43A:p.E15K;LDLRAD4:NM_001003674:exon3:c.G226A:p.E76K;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.G337A:p.E113K;ENSG00000168675:ENST00000585931:exon3:c.G106A:p.E36K;ENSG00000168675:ENST00000587757:exon3:c.G226A:p.E76K;ENSG00000168675:ENST00000592991:exon2:c.G43A:p.E15K;ENSG00000168675:ENST00000359446:exon5:c.G337A:p.E113K;	0.989244341152215	0.906
18	13643358	G	C	18	13643359	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.G337C:p.E113Q;LDLRAD4:NM_001276249:exon3:c.G106C:p.E36Q;LDLRAD4:NM_001276251:exon2:c.G43C:p.E15Q;LDLRAD4:NM_001003674:exon3:c.G226C:p.E76Q;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.G337C:p.E113Q;ENSG00000168675:ENST00000585931:exon3:c.G106C:p.E36Q;ENSG00000168675:ENST00000587757:exon3:c.G226C:p.E76Q;ENSG00000168675:ENST00000592991:exon2:c.G43C:p.E15Q;ENSG00000168675:ENST00000359446:exon5:c.G337C:p.E113Q;	0.986851478862612	0.834
18	13643358	G	T	18	13643359	y	y	exonic	LDLRAD4	stopgain SNV	LDLRAD4:NM_181481:exon5:c.G337T:p.E113X;LDLRAD4:NM_001276249:exon3:c.G106T:p.E36X;LDLRAD4:NM_001276251:exon2:c.G43T:p.E15X;LDLRAD4:NM_001003674:exon3:c.G226T:p.E76X;	exonic	ENSG00000168675	stopgain SNV	ENSG00000168675:ENST00000361205:exon6:c.G337T:p.E113X;ENSG00000168675:ENST00000585931:exon3:c.G106T:p.E36X;ENSG00000168675:ENST00000587757:exon3:c.G226T:p.E76X;ENSG00000168675:ENST00000592991:exon2:c.G43T:p.E15X;ENSG00000168675:ENST00000359446:exon5:c.G337T:p.E113X;	0.991479803773364	0.948
18	13643359	A	C	18	13643360	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.A338C:p.E113A;LDLRAD4:NM_001276249:exon3:c.A107C:p.E36A;LDLRAD4:NM_001276251:exon2:c.A44C:p.E15A;LDLRAD4:NM_001003674:exon3:c.A227C:p.E76A;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.A338C:p.E113A;ENSG00000168675:ENST00000585931:exon3:c.A107C:p.E36A;ENSG00000168675:ENST00000587757:exon3:c.A227C:p.E76A;ENSG00000168675:ENST00000592991:exon2:c.A44C:p.E15A;ENSG00000168675:ENST00000359446:exon5:c.A338C:p.E113A;	0.784522596134489	0.736
18	13643359	A	G	18	13643360	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.A338G:p.E113G;LDLRAD4:NM_001276249:exon3:c.A107G:p.E36G;LDLRAD4:NM_001276251:exon2:c.A44G:p.E15G;LDLRAD4:NM_001003674:exon3:c.A227G:p.E76G;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.A338G:p.E113G;ENSG00000168675:ENST00000585931:exon3:c.A107G:p.E36G;ENSG00000168675:ENST00000587757:exon3:c.A227G:p.E76G;ENSG00000168675:ENST00000592991:exon2:c.A44G:p.E15G;ENSG00000168675:ENST00000359446:exon5:c.A338G:p.E113G;	0.832171914305759	0.784
18	13643359	A	T	18	13643360	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.A338T:p.E113V;LDLRAD4:NM_001276249:exon3:c.A107T:p.E36V;LDLRAD4:NM_001276251:exon2:c.A44T:p.E15V;LDLRAD4:NM_001003674:exon3:c.A227T:p.E76V;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.A338T:p.E113V;ENSG00000168675:ENST00000585931:exon3:c.A107T:p.E36V;ENSG00000168675:ENST00000587757:exon3:c.A227T:p.E76V;ENSG00000168675:ENST00000592991:exon2:c.A44T:p.E15V;ENSG00000168675:ENST00000359446:exon5:c.A338T:p.E113V;	0.784522596134489	0.738
18	13643409	G	A	18	13643410	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.G388A:p.E130K;LDLRAD4:NM_001276249:exon3:c.G157A:p.E53K;LDLRAD4:NM_001276251:exon2:c.G94A:p.E32K;LDLRAD4:NM_001003674:exon3:c.G277A:p.E93K;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.G388A:p.E130K;ENSG00000168675:ENST00000585931:exon3:c.G157A:p.E53K;ENSG00000168675:ENST00000587757:exon3:c.G277A:p.E93K;ENSG00000168675:ENST00000592991:exon2:c.G94A:p.E32K;ENSG00000168675:ENST00000359446:exon5:c.G388A:p.E130K;	0.987835909284275	0.832
18	13643409	G	C	18	13643410	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.G388C:p.E130Q;LDLRAD4:NM_001276249:exon3:c.G157C:p.E53Q;LDLRAD4:NM_001276251:exon2:c.G94C:p.E32Q;LDLRAD4:NM_001003674:exon3:c.G277C:p.E93Q;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.G388C:p.E130Q;ENSG00000168675:ENST00000585931:exon3:c.G157C:p.E53Q;ENSG00000168675:ENST00000587757:exon3:c.G277C:p.E93Q;ENSG00000168675:ENST00000592991:exon2:c.G94C:p.E32Q;ENSG00000168675:ENST00000359446:exon5:c.G388C:p.E130Q;	0.0307919762509319	0.058
18	13643409	G	T	18	13643410	y	y	exonic	LDLRAD4	stopgain SNV	LDLRAD4:NM_181481:exon5:c.G388T:p.E130X;LDLRAD4:NM_001276249:exon3:c.G157T:p.E53X;LDLRAD4:NM_001276251:exon2:c.G94T:p.E32X;LDLRAD4:NM_001003674:exon3:c.G277T:p.E93X;	exonic	ENSG00000168675	stopgain SNV	ENSG00000168675:ENST00000361205:exon6:c.G388T:p.E130X;ENSG00000168675:ENST00000585931:exon3:c.G157T:p.E53X;ENSG00000168675:ENST00000587757:exon3:c.G277T:p.E93X;ENSG00000168675:ENST00000592991:exon2:c.G94T:p.E32X;ENSG00000168675:ENST00000359446:exon5:c.G388T:p.E130X;	0.991479803773364	0.948
18	13643410	A	C	18	13643411	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.A389C:p.E130A;LDLRAD4:NM_001276249:exon3:c.A158C:p.E53A;LDLRAD4:NM_001276251:exon2:c.A95C:p.E32A;LDLRAD4:NM_001003674:exon3:c.A278C:p.E93A;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.A389C:p.E130A;ENSG00000168675:ENST00000585931:exon3:c.A158C:p.E53A;ENSG00000168675:ENST00000587757:exon3:c.A278C:p.E93A;ENSG00000168675:ENST00000592991:exon2:c.A95C:p.E32A;ENSG00000168675:ENST00000359446:exon5:c.A389C:p.E130A;	0.0980333975144165	0.394
18	13643410	A	G	18	13643411	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.A389G:p.E130G;LDLRAD4:NM_001276249:exon3:c.A158G:p.E53G;LDLRAD4:NM_001276251:exon2:c.A95G:p.E32G;LDLRAD4:NM_001003674:exon3:c.A278G:p.E93G;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.A389G:p.E130G;ENSG00000168675:ENST00000585931:exon3:c.A158G:p.E53G;ENSG00000168675:ENST00000587757:exon3:c.A278G:p.E93G;ENSG00000168675:ENST00000592991:exon2:c.A95G:p.E32G;ENSG00000168675:ENST00000359446:exon5:c.A389G:p.E130G;	0.502624535581599	0.678
18	13643410	A	T	18	13643411	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.A389T:p.E130V;LDLRAD4:NM_001276249:exon3:c.A158T:p.E53V;LDLRAD4:NM_001276251:exon2:c.A95T:p.E32V;LDLRAD4:NM_001003674:exon3:c.A278T:p.E93V;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.A389T:p.E130V;ENSG00000168675:ENST00000585931:exon3:c.A158T:p.E53V;ENSG00000168675:ENST00000587757:exon3:c.A278T:p.E93V;ENSG00000168675:ENST00000592991:exon2:c.A95T:p.E32V;ENSG00000168675:ENST00000359446:exon5:c.A389T:p.E130V;	0.167031886271497	0.528
18	13643411	G	A	18	13643412	y	y	exonic	LDLRAD4	synonymous SNV	LDLRAD4:NM_181481:exon5:c.G390A:p.E130E;LDLRAD4:NM_001276249:exon3:c.G159A:p.E53E;LDLRAD4:NM_001276251:exon2:c.G96A:p.E32E;LDLRAD4:NM_001003674:exon3:c.G279A:p.E93E;	exonic	ENSG00000168675	synonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.G390A:p.E130E;ENSG00000168675:ENST00000585931:exon3:c.G159A:p.E53E;ENSG00000168675:ENST00000587757:exon3:c.G279A:p.E93E;ENSG00000168675:ENST00000592991:exon2:c.G96A:p.E32E;ENSG00000168675:ENST00000359446:exon5:c.G390A:p.E130E;	0.0101189792044043	0.026
18	13643411	G	C	18	13643412	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.G390C:p.E130D;LDLRAD4:NM_001276249:exon3:c.G159C:p.E53D;LDLRAD4:NM_001276251:exon2:c.G96C:p.E32D;LDLRAD4:NM_001003674:exon3:c.G279C:p.E93D;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.G390C:p.E130D;ENSG00000168675:ENST00000585931:exon3:c.G159C:p.E53D;ENSG00000168675:ENST00000587757:exon3:c.G279C:p.E93D;ENSG00000168675:ENST00000592991:exon2:c.G96C:p.E32D;ENSG00000168675:ENST00000359446:exon5:c.G390C:p.E130D;	0.987835909284275	0.846
18	13643411	G	T	18	13643412	y	y	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon5:c.G390T:p.E130D;LDLRAD4:NM_001276249:exon3:c.G159T:p.E53D;LDLRAD4:NM_001276251:exon2:c.G96T:p.E32D;LDLRAD4:NM_001003674:exon3:c.G279T:p.E93D;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon6:c.G390T:p.E130D;ENSG00000168675:ENST00000585931:exon3:c.G159T:p.E53D;ENSG00000168675:ENST00000587757:exon3:c.G279T:p.E93D;ENSG00000168675:ENST00000592991:exon2:c.G96T:p.E32D;ENSG00000168675:ENST00000359446:exon5:c.G390T:p.E130D;	0.987835909284275	0.842
18	13643412	G	A	18	13643413	y	y	splicing	LDLRAD4(NM_181481:exon5:c.390+1G>A;NM_001003674:exon3:c.279+1G>A;NM_001276249:exon3:c.159+1G>A;NM_001276251:exon2:c.96+1G>A)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.390+1G>A;ENST00000359446:exon5:c.390+1G>A;ENST00000587757:exon3:c.279+1G>A;ENST00000585931:exon3:c.159+1G>A;ENST00000592991:exon2:c.96+1G>A)	.	.	0.0755048567596306	0.206
18	13643412	G	C	18	13643413	y	y	splicing	LDLRAD4(NM_181481:exon5:c.390+1G>C;NM_001003674:exon3:c.279+1G>C;NM_001276249:exon3:c.159+1G>C;NM_001276251:exon2:c.96+1G>C)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.390+1G>C;ENST00000359446:exon5:c.390+1G>C;ENST00000587757:exon3:c.279+1G>C;ENST00000585931:exon3:c.159+1G>C;ENST00000592991:exon2:c.96+1G>C)	.	.	0.041459617710833	0.11
18	13643412	G	T	18	13643413	y	y	splicing	LDLRAD4(NM_181481:exon5:c.390+1G>T;NM_001003674:exon3:c.279+1G>T;NM_001276249:exon3:c.159+1G>T;NM_001276251:exon2:c.96+1G>T)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.390+1G>T;ENST00000359446:exon5:c.390+1G>T;ENST00000587757:exon3:c.279+1G>T;ENST00000585931:exon3:c.159+1G>T;ENST00000592991:exon2:c.96+1G>T)	.	.	0.0493885994418066	0.182
18	13643413	T	A	18	13643414	y	y	splicing	LDLRAD4(NM_181481:exon5:c.390+2T>A;NM_001003674:exon3:c.279+2T>A;NM_001276249:exon3:c.159+2T>A;NM_001276251:exon2:c.96+2T>A)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.390+2T>A;ENST00000359446:exon5:c.390+2T>A;ENST00000587757:exon3:c.279+2T>A;ENST00000585931:exon3:c.159+2T>A;ENST00000592991:exon2:c.96+2T>A)	.	.	0.0381398868467224	0.164
18	13643413	T	C	18	13643414	y	y	splicing	LDLRAD4(NM_181481:exon5:c.390+2T>C;NM_001003674:exon3:c.279+2T>C;NM_001276249:exon3:c.159+2T>C;NM_001276251:exon2:c.96+2T>C)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.390+2T>C;ENST00000359446:exon5:c.390+2T>C;ENST00000587757:exon3:c.279+2T>C;ENST00000585931:exon3:c.159+2T>C;ENST00000592991:exon2:c.96+2T>C)	.	.	0.0173493336427258	0.088
18	13643413	T	G	18	13643414	y	y	splicing	LDLRAD4(NM_181481:exon5:c.390+2T>G;NM_001003674:exon3:c.279+2T>G;NM_001276249:exon3:c.159+2T>G;NM_001276251:exon2:c.96+2T>G)	.	.	splicing	ENSG00000168675(ENST00000361205:exon6:c.390+2T>G;ENST00000359446:exon5:c.390+2T>G;ENST00000587757:exon3:c.279+2T>G;ENST00000585931:exon3:c.159+2T>G;ENST00000592991:exon2:c.96+2T>G)	.	.	0.0173493336427258	0.092
18	13643414	A	C	18	13643415	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.07416068048199E-4	0.004
18	13643414	A	G	18	13643415	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.07416068048199E-4	0.004
18	13643414	A	T	18	13643415	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	7.70373002829532E-4	0.012
18	13643415	A	C	18	13643416	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00115282057099061	0.014
18	13643415	A	G	18	13643416	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00115282057099061	0.014
18	13643415	A	T	18	13643416	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00133465960783324	0.018
18	13643416	G	A	18	13643417	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00686042008306105	0.018
18	13643416	G	C	18	13643417	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00686042008306105	0.038
18	13643416	G	T	18	13643417	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	0.00686042008306105	0.024
18	13643417	G	A	18	13643418	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	9.48161896632544E-4	0.038
18	13643417	G	C	18	13643418	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.99661989757219E-4	0.038
18	13643417	G	T	18	13643418	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	3.99661989757219E-4	0.038
18	13643418	G	A	18	13643419	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.89925739660516E-5	0.006
18	13643418	G	C	18	13643419	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.89925739660516E-5	0.004
18	13643418	G	T	18	13643419	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	6.89925739660516E-5	0.004
18	13643419	G	A	18	13643420	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.52932449848953E-5	0.002
18	13643419	G	C	18	13643420	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.52932449848953E-5	0.002
18	13643419	G	T	18	13643420	y	y	intronic	LDLRAD4	.	.	intronic	ENSG00000168675	.	.	4.52932449848953E-5	0.002
18	13645114	T	A	18	13645115	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	3.10691713876738E-5	0.024
18	13645114	T	C	18	13645115	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	2.04697702873558E-5	0.0
18	13645114	T	G	18	13645115	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	4.2865006503494E-5	0.008
18	13645115	T	A	18	13645116	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	3.72262898059155E-5	0.15
18	13645115	T	C	18	13645116	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	4.39689490023729E-5	0.044
18	13645115	T	G	18	13645116	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	4.29024522003799E-5	0.13
18	13645116	T	A	18	13645117	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	3.258608185218E-5	0.006
18	13645116	T	C	18	13645117	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	2.44118201500469E-5	0.002
18	13645116	T	G	18	13645117	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	1.92686571946135E-5	0.05
18	13645117	T	A	18	13645118	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	1.23905692886655E-5	0.068
18	13645117	T	C	18	13645118	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	1.41532007648332E-5	0.004
18	13645117	T	G	18	13645118	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	1.23905692886655E-5	0.08
18	13645118	C	A	18	13645119	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	8.73919513642548E-5	0.014
18	13645118	C	G	18	13645119	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	5.65785974816762E-5	0.012
18	13645118	C	T	18	13645119	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	4.38243592031664E-5	0.004
18	13645119	C	A	18	13645120	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	7.3755573512893E-5	0.018
18	13645119	C	G	18	13645120	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	4.01210462133336E-5	0.008
18	13645119	C	T	18	13645120	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	2.73908337207339E-5	0.0
18	13645120	T	A	18	13645121	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	2.66936540695372E-5	0.046
18	13645120	T	C	18	13645121	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	1.13971999507353E-5	0.0
18	13645120	T	G	18	13645121	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	1.51766787120201E-4	0.096
18	13645121	T	A	18	13645122	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	9.23181169776294E-5	0.082
18	13645121	T	C	18	13645122	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	1.40033267574227E-4	0.004
18	13645121	T	G	18	13645122	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	2.32468009725982E-4	0.072
18	13645122	C	A	18	13645123	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	5.16417688711885E-5	0.0
18	13645122	C	G	18	13645123	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	5.16417688711885E-5	0.0
18	13645122	C	T	18	13645123	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	5.16417688711885E-5	0.0
18	13645123	C	A	18	13645124	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.295468151290992	0.406
18	13645123	C	G	18	13645124	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.998590184033967	0.802
18	13645123	C	T	18	13645124	y	n	intronic	LDLRAD4	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.0244695770857778	0.252
18	13645124	A	C	18	13645125	y	n	splicing	LDLRAD4(NM_181482:exon6:c.337-2A>C;NM_181481:exon6:c.391-2A>C;NM_001003675:exon3:c.226-2A>C;NM_001003674:exon4:c.280-2A>C;NM_001276249:exon4:c.160-2A>C;NM_001276251:exon3:c.97-2A>C)	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.999992752818502	0.926
18	13645124	A	G	18	13645125	y	n	splicing	LDLRAD4(NM_181482:exon6:c.337-2A>G;NM_181481:exon6:c.391-2A>G;NM_001003675:exon3:c.226-2A>G;NM_001003674:exon4:c.280-2A>G;NM_001276249:exon4:c.160-2A>G;NM_001276251:exon3:c.97-2A>G)	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.999992752818502	0.926
18	13645124	A	T	18	13645125	y	n	splicing	LDLRAD4(NM_181482:exon6:c.337-2A>T;NM_181481:exon6:c.391-2A>T;NM_001003675:exon3:c.226-2A>T;NM_001003674:exon4:c.280-2A>T;NM_001276249:exon4:c.160-2A>T;NM_001276251:exon3:c.97-2A>T)	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.999992752818502	0.926
18	13645125	G	A	18	13645126	y	n	splicing	LDLRAD4(NM_181482:exon6:c.337-1G>A;NM_181481:exon6:c.391-1G>A;NM_001003675:exon3:c.226-1G>A;NM_001003674:exon4:c.280-1G>A;NM_001276249:exon4:c.160-1G>A;NM_001276251:exon3:c.97-1G>A)	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.999985896210868	0.918
18	13645125	G	C	18	13645126	y	n	splicing	LDLRAD4(NM_181482:exon6:c.337-1G>C;NM_181481:exon6:c.391-1G>C;NM_001003675:exon3:c.226-1G>C;NM_001003674:exon4:c.280-1G>C;NM_001276249:exon4:c.160-1G>C;NM_001276251:exon3:c.97-1G>C)	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.999981679187414	0.92
18	13645125	G	T	18	13645126	y	n	splicing	LDLRAD4(NM_181482:exon6:c.337-1G>T;NM_181481:exon6:c.391-1G>T;NM_001003675:exon3:c.226-1G>T;NM_001003674:exon4:c.280-1G>T;NM_001276249:exon4:c.160-1G>T;NM_001276251:exon3:c.97-1G>T)	.	.	ncRNA_exonic	ENSG00000266954	.	.	0.999985896210868	0.918
18	13645126	A	C	18	13645127	y	n	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon6:c.A391C:p.I131L;LDLRAD4:NM_001003675:exon3:c.A226C:p.I76L;LDLRAD4:NM_001276249:exon4:c.A160C:p.I54L;LDLRAD4:NM_001276251:exon3:c.A97C:p.I33L;LDLRAD4:NM_181482:exon6:c.A337C:p.I113L;LDLRAD4:NM_001003674:exon4:c.A280C:p.I94L;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon7:c.A391C:p.I131L;ENSG00000168675:ENST00000586765:exon3:c.A226C:p.I76L;ENSG00000168675:ENST00000585931:exon4:c.A160C:p.I54L;ENSG00000168675:ENST00000587757:exon4:c.A280C:p.I94L;ENSG00000168675:ENST00000592991:exon3:c.A97C:p.I33L;ENSG00000168675:ENST00000359446:exon6:c.A391C:p.I131L;ENSG00000168675:ENST00000399848:exon6:c.A337C:p.I113L;	0.00211379508324546	0.098
18	13645126	A	G	18	13645127	y	n	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon6:c.A391G:p.I131V;LDLRAD4:NM_001003675:exon3:c.A226G:p.I76V;LDLRAD4:NM_001276249:exon4:c.A160G:p.I54V;LDLRAD4:NM_001276251:exon3:c.A97G:p.I33V;LDLRAD4:NM_181482:exon6:c.A337G:p.I113V;LDLRAD4:NM_001003674:exon4:c.A280G:p.I94V;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon7:c.A391G:p.I131V;ENSG00000168675:ENST00000586765:exon3:c.A226G:p.I76V;ENSG00000168675:ENST00000585931:exon4:c.A160G:p.I54V;ENSG00000168675:ENST00000587757:exon4:c.A280G:p.I94V;ENSG00000168675:ENST00000592991:exon3:c.A97G:p.I33V;ENSG00000168675:ENST00000359446:exon6:c.A391G:p.I131V;ENSG00000168675:ENST00000399848:exon6:c.A337G:p.I113V;	1.83271250987562E-5	0.0
18	13645126	A	T	18	13645127	y	n	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon6:c.A391T:p.I131F;LDLRAD4:NM_001003675:exon3:c.A226T:p.I76F;LDLRAD4:NM_001276249:exon4:c.A160T:p.I54F;LDLRAD4:NM_001276251:exon3:c.A97T:p.I33F;LDLRAD4:NM_181482:exon6:c.A337T:p.I113F;LDLRAD4:NM_001003674:exon4:c.A280T:p.I94F;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon7:c.A391T:p.I131F;ENSG00000168675:ENST00000586765:exon3:c.A226T:p.I76F;ENSG00000168675:ENST00000585931:exon4:c.A160T:p.I54F;ENSG00000168675:ENST00000587757:exon4:c.A280T:p.I94F;ENSG00000168675:ENST00000592991:exon3:c.A97T:p.I33F;ENSG00000168675:ENST00000359446:exon6:c.A391T:p.I131F;ENSG00000168675:ENST00000399848:exon6:c.A337T:p.I113F;	1.22325883537727E-4	0.068
18	13645127	T	A	18	13645128	y	n	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon6:c.T392A:p.I131N;LDLRAD4:NM_001003675:exon3:c.T227A:p.I76N;LDLRAD4:NM_001276249:exon4:c.T161A:p.I54N;LDLRAD4:NM_001276251:exon3:c.T98A:p.I33N;LDLRAD4:NM_181482:exon6:c.T338A:p.I113N;LDLRAD4:NM_001003674:exon4:c.T281A:p.I94N;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon7:c.T392A:p.I131N;ENSG00000168675:ENST00000586765:exon3:c.T227A:p.I76N;ENSG00000168675:ENST00000585931:exon4:c.T161A:p.I54N;ENSG00000168675:ENST00000587757:exon4:c.T281A:p.I94N;ENSG00000168675:ENST00000592991:exon3:c.T98A:p.I33N;ENSG00000168675:ENST00000359446:exon6:c.T392A:p.I131N;ENSG00000168675:ENST00000399848:exon6:c.T338A:p.I113N;	1.46326406823621E-5	0.054
18	13645127	T	C	18	13645128	y	n	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon6:c.T392C:p.I131T;LDLRAD4:NM_001003675:exon3:c.T227C:p.I76T;LDLRAD4:NM_001276249:exon4:c.T161C:p.I54T;LDLRAD4:NM_001276251:exon3:c.T98C:p.I33T;LDLRAD4:NM_181482:exon6:c.T338C:p.I113T;LDLRAD4:NM_001003674:exon4:c.T281C:p.I94T;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon7:c.T392C:p.I131T;ENSG00000168675:ENST00000586765:exon3:c.T227C:p.I76T;ENSG00000168675:ENST00000585931:exon4:c.T161C:p.I54T;ENSG00000168675:ENST00000587757:exon4:c.T281C:p.I94T;ENSG00000168675:ENST00000592991:exon3:c.T98C:p.I33T;ENSG00000168675:ENST00000359446:exon6:c.T392C:p.I131T;ENSG00000168675:ENST00000399848:exon6:c.T338C:p.I113T;	1.53124383558237E-4	0.018
18	13645127	T	G	18	13645128	y	n	exonic	LDLRAD4	nonsynonymous SNV	LDLRAD4:NM_181481:exon6:c.T392G:p.I131S;LDLRAD4:NM_001003675:exon3:c.T227G:p.I76S;LDLRAD4:NM_001276249:exon4:c.T161G:p.I54S;LDLRAD4:NM_001276251:exon3:c.T98G:p.I33S;LDLRAD4:NM_181482:exon6:c.T338G:p.I113S;LDLRAD4:NM_001003674:exon4:c.T281G:p.I94S;	exonic	ENSG00000168675	nonsynonymous SNV	ENSG00000168675:ENST00000361205:exon7:c.T392G:p.I131S;ENSG00000168675:ENST00000586765:exon3:c.T227G:p.I76S;ENSG00000168675:ENST00000585931:exon4:c.T161G:p.I54S;ENSG00000168675:ENST00000587757:exon4:c.T281G:p.I94S;ENSG00000168675:ENST00000592991:exon3:c.T98G:p.I33S;ENSG00000168675:ENST00000359446:exon6:c.T392G:p.I131S;ENSG00000168675:ENST00000399848:exon6:c.T338G:p.I113S;	2.71509390655945E-4	0.046
18	13666711	A	C	18	13666712	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon4:c.T587G:p.I196S;FAM210A:NM_001098801:exon5:c.T587G:p.I196S;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon5:c.T587G:p.I196S;ENSG00000177150:ENST00000592976:exon4:c.T587G:p.I196S;ENSG00000177150:ENST00000402563:exon4:c.T587G:p.I196S;ENSG00000177150:ENST00000589346:exon3:c.T178G:p.L60V;	0.796948723626538	0.42
18	13666711	A	G	18	13666712	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon4:c.T587C:p.I196T;FAM210A:NM_001098801:exon5:c.T587C:p.I196T;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon5:c.T587C:p.I196T;ENSG00000177150:ENST00000592976:exon4:c.T587C:p.I196T;ENSG00000177150:ENST00000402563:exon4:c.T587C:p.I196T;	0.791649309365278	0.468
18	13666711	A	T	18	13666712	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon4:c.T587A:p.I196N;FAM210A:NM_001098801:exon5:c.T587A:p.I196N;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon5:c.T587A:p.I196N;ENSG00000177150:ENST00000592976:exon4:c.T587A:p.I196N;ENSG00000177150:ENST00000402563:exon4:c.T587A:p.I196N;ENSG00000177150:ENST00000589346:exon3:c.T178A:p.L60M;	0.486271991584162	0.44
18	13666712	T	A	18	13666713	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon4:c.A586T:p.I196F;FAM210A:NM_001098801:exon5:c.A586T:p.I196F;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon5:c.A586T:p.I196F;ENSG00000177150:ENST00000592976:exon4:c.A586T:p.I196F;ENSG00000177150:ENST00000402563:exon4:c.A586T:p.I196F;ENSG00000177150:ENST00000589346:exon3:c.A177T:p.R59S;	0.661688312978377	0.466
18	13666712	T	C	18	13666713	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon4:c.A586G:p.I196V;FAM210A:NM_001098801:exon5:c.A586G:p.I196V;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon5:c.A586G:p.I196V;ENSG00000177150:ENST00000592976:exon4:c.A586G:p.I196V;ENSG00000177150:ENST00000402563:exon4:c.A586G:p.I196V;	0.47820302025825	0.524
18	13666712	T	G	18	13666713	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon4:c.A586C:p.I196L;FAM210A:NM_001098801:exon5:c.A586C:p.I196L;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon5:c.A586C:p.I196L;ENSG00000177150:ENST00000592976:exon4:c.A586C:p.I196L;ENSG00000177150:ENST00000402563:exon4:c.A586C:p.I196L;ENSG00000177150:ENST00000589346:exon3:c.A177C:p.R59S;	0.731453882671377	0.458
18	13666713	C	A	18	13666714	y	y	splicing	FAM210A(NM_152352:exon5:c.586-1G>T;NM_001098801:exon6:c.586-1G>T)	.	.	splicing	ENSG00000177150(ENST00000322247:exon6:c.586-1G>T;ENST00000402563:exon5:c.586-1G>T;ENST00000589346:exon4:c.177-1G>T;ENST00000592976:exon5:c.586-1G>T)	.	.	0.999986675681007	0.932
18	13666713	C	G	18	13666714	y	y	splicing	FAM210A(NM_152352:exon5:c.586-1G>C;NM_001098801:exon6:c.586-1G>C)	.	.	splicing	ENSG00000177150(ENST00000322247:exon6:c.586-1G>C;ENST00000402563:exon5:c.586-1G>C;ENST00000589346:exon4:c.177-1G>C;ENST00000592976:exon5:c.586-1G>C)	.	.	0.999986675681007	0.932
18	13666713	C	T	18	13666714	y	y	splicing	FAM210A(NM_152352:exon5:c.586-1G>A;NM_001098801:exon6:c.586-1G>A)	.	.	splicing	ENSG00000177150(ENST00000322247:exon6:c.586-1G>A;ENST00000402563:exon5:c.586-1G>A;ENST00000589346:exon4:c.177-1G>A;ENST00000592976:exon5:c.586-1G>A)	.	.	0.999986675681007	0.932
18	13666714	T	A	18	13666715	y	y	splicing	FAM210A(NM_152352:exon5:c.586-2A>T;NM_001098801:exon6:c.586-2A>T)	.	.	splicing	ENSG00000177150(ENST00000322247:exon6:c.586-2A>T;ENST00000402563:exon5:c.586-2A>T;ENST00000589346:exon4:c.177-2A>T;ENST00000592976:exon5:c.586-2A>T)	.	.	0.999988247793601	0.926
18	13666714	T	C	18	13666715	y	y	splicing	FAM210A(NM_152352:exon5:c.586-2A>G;NM_001098801:exon6:c.586-2A>G)	.	.	splicing	ENSG00000177150(ENST00000322247:exon6:c.586-2A>G;ENST00000402563:exon5:c.586-2A>G;ENST00000589346:exon4:c.177-2A>G;ENST00000592976:exon5:c.586-2A>G)	.	.	0.999988247793601	0.926
18	13666714	T	G	18	13666715	y	y	splicing	FAM210A(NM_152352:exon5:c.586-2A>C;NM_001098801:exon6:c.586-2A>C)	.	.	splicing	ENSG00000177150(ENST00000322247:exon6:c.586-2A>C;ENST00000402563:exon5:c.586-2A>C;ENST00000589346:exon4:c.177-2A>C;ENST00000592976:exon5:c.586-2A>C)	.	.	0.999988247793601	0.926
18	13666715	T	A	18	13666716	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.10579589421876E-4	0.046
18	13666715	T	C	18	13666716	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.257732386891596	0.472
18	13666715	T	G	18	13666716	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.74419750840159E-4	0.112
18	13666716	A	C	18	13666717	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	9.17362078168634E-4	0.088
18	13666716	A	G	18	13666717	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.60757372135889E-5	0.01
18	13666716	A	T	18	13666717	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.8245679256119E-5	0.002
18	13666717	A	C	18	13666718	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.85689235782398	0.64
18	13666717	A	G	18	13666718	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00319440964237719	0.152
18	13666717	A	T	18	13666718	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.869725669054854	0.704
18	13666718	G	A	18	13666719	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.08502293800731E-4	0.036
18	13666718	G	C	18	13666719	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00103000441162699	0.166
18	13666718	G	T	18	13666719	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00383517819413753	0.164
18	13666719	C	A	18	13666720	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.06481237244302E-5	0.008
18	13666719	C	G	18	13666720	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.05553213193938E-5	0.0
18	13666719	C	T	18	13666720	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.22660495981372E-5	0.054
18	13666720	A	C	18	13666721	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	9.89308016097753E-4	0.05
18	13666720	A	G	18	13666721	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.65298201298211E-5	0.0
18	13666720	A	T	18	13666721	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999670596322168	0.952
18	13666721	A	C	18	13666722	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.105809652953198	0.458
18	13666721	A	G	18	13666722	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.96529330071032E-4	0.064
18	13666721	A	T	18	13666722	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.39837907697643	0.494
18	13666722	A	C	18	13666723	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0905083504338698	0.46
18	13666722	A	G	18	13666723	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00503647507395863	0.126
18	13666722	A	T	18	13666723	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.58225154515926	0.572
18	13666723	A	C	18	13666724	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0202316029821763	0.466
18	13666723	A	G	18	13666724	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00218320730428213	0.104
18	13666723	A	T	18	13666724	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.332083919827559	0.618
18	13666724	A	C	18	13666725	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.277286245403544	0.458
18	13666724	A	G	18	13666725	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00166638831461346	0.144
18	13666724	A	T	18	13666725	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.372814044115555	0.464
18	13670966	G	A	18	13670967	n	y	intronic	FAM210A	.	.	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000589346:exon2:c.C80T:p.A27V;	6.7395485643605E-5	0.006
18	13670966	G	C	18	13670967	n	y	intronic	FAM210A	.	.	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000589346:exon2:c.C80G:p.A27G;	5.9149404486172E-5	0.006
18	13670966	G	T	18	13670967	n	y	intronic	FAM210A	.	.	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000589346:exon2:c.C80A:p.A27D;	6.7395485643605E-5	0.006
18	13670967	C	A	18	13670968	n	y	intronic	FAM210A	.	.	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000589346:exon2:c.G79T:p.A27S;	6.7395485643605E-5	0.006
18	13670967	C	G	18	13670968	n	y	intronic	FAM210A	.	.	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000589346:exon2:c.G79C:p.A27P;	2.83935518155002E-5	0.002
18	13670967	C	T	18	13670968	n	y	intronic	FAM210A	.	.	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000589346:exon2:c.G79A:p.A27T;	6.7395485643605E-5	0.006
18	13670968	C	A	18	13670969	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150(ENST00000589346:exon3:c.79-1G>T)	.	.	2.83935518155002E-5	0.004
18	13670968	C	G	18	13670969	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150(ENST00000589346:exon3:c.79-1G>C)	.	.	2.83935518155002E-5	0.0
18	13670968	C	T	18	13670969	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150(ENST00000589346:exon3:c.79-1G>A)	.	.	6.7395485643605E-5	0.008
18	13670969	T	A	18	13670970	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150(ENST00000589346:exon3:c.79-2A>T)	.	.	6.7395485643605E-5	0.104
18	13670969	T	C	18	13670970	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150(ENST00000589346:exon3:c.79-2A>G)	.	.	6.7395485643605E-5	0.006
18	13670969	T	G	18	13670970	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150(ENST00000589346:exon3:c.79-2A>C)	.	.	6.7395485643605E-5	0.006
18	13670970	G	A	18	13670971	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.83935518155002E-5	0.0
18	13670970	G	C	18	13670971	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.63141535133926E-5	0.0
18	13670970	G	T	18	13670971	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.63141535133926E-5	0.0
18	13670971	G	A	18	13670972	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.83935518155002E-5	0.0
18	13670971	G	C	18	13670972	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.63141535133926E-5	0.0
18	13670971	G	T	18	13670972	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.63141535133926E-5	0.0
18	13670972	G	A	18	13670973	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.014
18	13670972	G	C	18	13670973	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.014
18	13670972	G	T	18	13670973	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.014
18	13670973	A	C	18	13670974	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.86269840649936E-5	0.002
18	13670973	A	G	18	13670974	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.30560184011819E-5	0.168
18	13670973	A	T	18	13670974	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.25657893150842E-5	0.03
18	13670974	A	C	18	13670975	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.012
18	13670974	A	G	18	13670975	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.012
18	13670974	A	T	18	13670975	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.18905158676629E-5	0.014
18	13670975	A	C	18	13670976	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.01
18	13670975	A	G	18	13670976	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.008
18	13670975	A	T	18	13670976	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.18905158676629E-5	0.014
18	13670976	C	A	18	13670977	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.014
18	13670976	C	G	18	13670977	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.014
18	13670976	C	T	18	13670977	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.60742385600787E-5	0.014
18	13670977	A	C	18	13670978	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.17380870795729E-5	0.0
18	13670977	A	G	18	13670978	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.17380870795729E-5	0.0
18	13670977	A	T	18	13670978	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.17380870795729E-5	0.0
18	13670978	A	C	18	13670979	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.62951115444098E-5	0.0
18	13670978	A	G	18	13670979	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.62951115444098E-5	0.0
18	13670978	A	T	18	13670979	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.0616401152612E-5	0.0
18	13670979	G	A	18	13670980	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.63141535133926E-5	0.0
18	13670979	G	C	18	13670980	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.70357316916945E-5	0.0
18	13670979	G	T	18	13670980	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.70357316916945E-5	0.002
18	13671853	G	A	18	13671854	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.24453619638183E-4	0.004
18	13671853	G	C	18	13671854	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.52226981269123E-4	0.0
18	13671853	G	T	18	13671854	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.32329510929124E-4	0.002
18	13671854	T	A	18	13671855	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.36653606170017E-5	0.05
18	13671854	T	C	18	13671855	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.63661250860054E-5	0.01
18	13671854	T	G	18	13671855	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.61275418791741E-5	0.01
18	13671855	A	C	18	13671856	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.638917066961813	0.544
18	13671855	A	G	18	13671856	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0603834042198783	0.346
18	13671855	A	T	18	13671856	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.566366398735937	0.622
18	13671856	C	A	18	13671857	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999777412570012	0.936
18	13671856	C	G	18	13671857	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999956684634068	0.934
18	13671856	C	T	18	13671857	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999610240431106	0.96
18	13671857	C	A	18	13671858	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00728989908874228	0.062
18	13671857	C	G	18	13671858	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00168141911398783	0.046
18	13671857	C	T	18	13671858	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.83331678587619E-4	0.04
18	13671858	C	A	18	13671859	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00666165685739546	0.282
18	13671858	C	G	18	13671859	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0152932962284443	0.372
18	13671858	C	T	18	13671859	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.73652670900535E-4	0.042
18	13671859	A	C	18	13671860	y	y	splicing	FAM210A(NM_152352:exon4:c.585+2T>G;NM_001098801:exon5:c.585+2T>G)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.585+2T>G;ENST00000402563:exon4:c.585+2T>G;ENST00000589346:exon2:c.78+2T>G;ENST00000592976:exon4:c.585+2T>G)	.	.	0.999988247793601	0.932
18	13671859	A	G	18	13671860	y	y	splicing	FAM210A(NM_152352:exon4:c.585+2T>C;NM_001098801:exon5:c.585+2T>C)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.585+2T>C;ENST00000402563:exon4:c.585+2T>C;ENST00000589346:exon2:c.78+2T>C;ENST00000592976:exon4:c.585+2T>C)	.	.	0.999929727175276	0.87
18	13671859	A	T	18	13671860	y	y	splicing	FAM210A(NM_152352:exon4:c.585+2T>A;NM_001098801:exon5:c.585+2T>A)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.585+2T>A;ENST00000402563:exon4:c.585+2T>A;ENST00000589346:exon2:c.78+2T>A;ENST00000592976:exon4:c.585+2T>A)	.	.	0.999988247793601	0.932
18	13671860	C	A	18	13671861	y	y	splicing	FAM210A(NM_152352:exon4:c.585+1G>T;NM_001098801:exon5:c.585+1G>T)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.585+1G>T;ENST00000402563:exon4:c.585+1G>T;ENST00000589346:exon2:c.78+1G>T;ENST00000592976:exon4:c.585+1G>T)	.	.	0.999990361384395	0.938
18	13671860	C	G	18	13671861	y	y	splicing	FAM210A(NM_152352:exon4:c.585+1G>C;NM_001098801:exon5:c.585+1G>C)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.585+1G>C;ENST00000402563:exon4:c.585+1G>C;ENST00000589346:exon2:c.78+1G>C;ENST00000592976:exon4:c.585+1G>C)	.	.	0.999990361384395	0.938
18	13671860	C	T	18	13671861	y	y	splicing	FAM210A(NM_152352:exon4:c.585+1G>A;NM_001098801:exon5:c.585+1G>A)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.585+1G>A;ENST00000402563:exon4:c.585+1G>A;ENST00000589346:exon2:c.78+1G>A;ENST00000592976:exon4:c.585+1G>A)	.	.	0.999990361384395	0.938
18	13671861	C	A	18	13671862	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.G585T:p.K195N;FAM210A:NM_001098801:exon4:c.G585T:p.K195N;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon4:c.G585T:p.K195N;ENSG00000177150:ENST00000592976:exon3:c.G585T:p.K195N;ENSG00000177150:ENST00000402563:exon3:c.G585T:p.K195N;ENSG00000177150:ENST00000589346:exon1:c.G78T:p.K26N;	0.999987591864824	1.0
18	13671861	C	G	18	13671862	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.G585C:p.K195N;FAM210A:NM_001098801:exon4:c.G585C:p.K195N;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon4:c.G585C:p.K195N;ENSG00000177150:ENST00000592976:exon3:c.G585C:p.K195N;ENSG00000177150:ENST00000402563:exon3:c.G585C:p.K195N;ENSG00000177150:ENST00000589346:exon1:c.G78C:p.K26N;	0.99999721398396	1.0
18	13671861	C	T	18	13671862	y	y	exonic	FAM210A	synonymous SNV	FAM210A:NM_152352:exon3:c.G585A:p.K195K;FAM210A:NM_001098801:exon4:c.G585A:p.K195K;	exonic	ENSG00000177150	synonymous SNV	ENSG00000177150:ENST00000322247:exon4:c.G585A:p.K195K;ENSG00000177150:ENST00000592976:exon3:c.G585A:p.K195K;ENSG00000177150:ENST00000402563:exon3:c.G585A:p.K195K;ENSG00000177150:ENST00000589346:exon1:c.G78A:p.K26K;	0.999950838284338	0.992
18	13671862	T	A	18	13671863	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.A584T:p.K195M;FAM210A:NM_001098801:exon4:c.A584T:p.K195M;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon4:c.A584T:p.K195M;ENSG00000177150:ENST00000592976:exon3:c.A584T:p.K195M;ENSG00000177150:ENST00000402563:exon3:c.A584T:p.K195M;ENSG00000177150:ENST00000589346:exon1:c.A77T:p.K26M;	0.999811479557935	0.992
18	13671862	T	C	18	13671863	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.A584G:p.K195R;FAM210A:NM_001098801:exon4:c.A584G:p.K195R;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon4:c.A584G:p.K195R;ENSG00000177150:ENST00000592976:exon3:c.A584G:p.K195R;ENSG00000177150:ENST00000402563:exon3:c.A584G:p.K195R;ENSG00000177150:ENST00000589346:exon1:c.A77G:p.K26R;	0.999925424800448	0.996
18	13671862	T	G	18	13671863	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.A584C:p.K195T;FAM210A:NM_001098801:exon4:c.A584C:p.K195T;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon4:c.A584C:p.K195T;ENSG00000177150:ENST00000592976:exon3:c.A584C:p.K195T;ENSG00000177150:ENST00000402563:exon3:c.A584C:p.K195T;ENSG00000177150:ENST00000589346:exon1:c.A77C:p.K26T;	0.998791476287428	0.964
18	13671863	T	A	18	13671864	y	y	exonic	FAM210A	stopgain SNV	FAM210A:NM_152352:exon3:c.A583T:p.K195X;FAM210A:NM_001098801:exon4:c.A583T:p.K195X;	exonic	ENSG00000177150	stopgain SNV	ENSG00000177150:ENST00000322247:exon4:c.A583T:p.K195X;ENSG00000177150:ENST00000592976:exon3:c.A583T:p.K195X;ENSG00000177150:ENST00000402563:exon3:c.A583T:p.K195X;ENSG00000177150:ENST00000589346:exon1:c.A76T:p.K26X;	0.966900825462689	0.768
18	13671863	T	C	18	13671864	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.A583G:p.K195E;FAM210A:NM_001098801:exon4:c.A583G:p.K195E;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon4:c.A583G:p.K195E;ENSG00000177150:ENST00000592976:exon3:c.A583G:p.K195E;ENSG00000177150:ENST00000402563:exon3:c.A583G:p.K195E;ENSG00000177150:ENST00000589346:exon1:c.A76G:p.K26E;	0.403066313385366	0.55
18	13671863	T	G	18	13671864	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.A583C:p.K195Q;FAM210A:NM_001098801:exon4:c.A583C:p.K195Q;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000322247:exon4:c.A583C:p.K195Q;ENSG00000177150:ENST00000592976:exon3:c.A583C:p.K195Q;ENSG00000177150:ENST00000402563:exon3:c.A583C:p.K195Q;ENSG00000177150:ENST00000589346:exon1:c.A76C:p.K26Q;	0.787703066079257	0.704
18	13671971	C	A	18	13671972	y	y	exonic	FAM210A	stopgain SNV	FAM210A:NM_152352:exon3:c.G475T:p.G159X;FAM210A:NM_001098801:exon4:c.G475T:p.G159X;	exonic	ENSG00000177150	stopgain SNV	ENSG00000177150:ENST00000591269:exon4:c.G475T:p.G159X;ENSG00000177150:ENST00000322247:exon4:c.G475T:p.G159X;ENSG00000177150:ENST00000592976:exon3:c.G475T:p.G159X;ENSG00000177150:ENST00000402563:exon3:c.G475T:p.G159X;	0.983090569774748	0.926
18	13671971	C	G	18	13671972	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.G475C:p.G159R;FAM210A:NM_001098801:exon4:c.G475C:p.G159R;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon4:c.G475C:p.G159R;ENSG00000177150:ENST00000322247:exon4:c.G475C:p.G159R;ENSG00000177150:ENST00000592976:exon3:c.G475C:p.G159R;ENSG00000177150:ENST00000402563:exon3:c.G475C:p.G159R;	0.98140848909142	0.874
18	13671971	C	T	18	13671972	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.G475A:p.G159R;FAM210A:NM_001098801:exon4:c.G475A:p.G159R;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon4:c.G475A:p.G159R;ENSG00000177150:ENST00000322247:exon4:c.G475A:p.G159R;ENSG00000177150:ENST00000592976:exon3:c.G475A:p.G159R;ENSG00000177150:ENST00000402563:exon3:c.G475A:p.G159R;	0.989586793473244	0.886
18	13671972	T	A	18	13671973	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.A474T:p.K158N;FAM210A:NM_001098801:exon4:c.A474T:p.K158N;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon4:c.A474T:p.K158N;ENSG00000177150:ENST00000322247:exon4:c.A474T:p.K158N;ENSG00000177150:ENST00000592976:exon3:c.A474T:p.K158N;ENSG00000177150:ENST00000402563:exon3:c.A474T:p.K158N;	0.280355379118299	0.474
18	13671972	T	C	18	13671973	y	y	exonic	FAM210A	synonymous SNV	FAM210A:NM_152352:exon3:c.A474G:p.K158K;FAM210A:NM_001098801:exon4:c.A474G:p.K158K;	exonic	ENSG00000177150	synonymous SNV	ENSG00000177150:ENST00000591269:exon4:c.A474G:p.K158K;ENSG00000177150:ENST00000322247:exon4:c.A474G:p.K158K;ENSG00000177150:ENST00000592976:exon3:c.A474G:p.K158K;ENSG00000177150:ENST00000402563:exon3:c.A474G:p.K158K;	0.0014148980225671	0.018
18	13671972	T	G	18	13671973	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon3:c.A474C:p.K158N;FAM210A:NM_001098801:exon4:c.A474C:p.K158N;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon4:c.A474C:p.K158N;ENSG00000177150:ENST00000322247:exon4:c.A474C:p.K158N;ENSG00000177150:ENST00000592976:exon3:c.A474C:p.K158N;ENSG00000177150:ENST00000402563:exon3:c.A474C:p.K158N;	0.114727655642214	0.398
18	13671973	C	A	18	13671974	y	y	splicing	FAM210A(NM_152352:exon4:c.474-1G>T;NM_001098801:exon5:c.474-1G>T)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.474-1G>T;ENST00000402563:exon4:c.474-1G>T;ENST00000592976:exon4:c.474-1G>T;ENST00000591269:exon5:c.474-1G>T)	.	.	0.999990361384395	0.938
18	13671973	C	G	18	13671974	y	y	splicing	FAM210A(NM_152352:exon4:c.474-1G>C;NM_001098801:exon5:c.474-1G>C)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.474-1G>C;ENST00000402563:exon4:c.474-1G>C;ENST00000592976:exon4:c.474-1G>C;ENST00000591269:exon5:c.474-1G>C)	.	.	0.999990361384395	0.938
18	13671973	C	T	18	13671974	y	y	splicing	FAM210A(NM_152352:exon4:c.474-1G>A;NM_001098801:exon5:c.474-1G>A)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.474-1G>A;ENST00000402563:exon4:c.474-1G>A;ENST00000592976:exon4:c.474-1G>A;ENST00000591269:exon5:c.474-1G>A)	.	.	0.999990361384395	0.938
18	13671974	T	A	18	13671975	y	y	splicing	FAM210A(NM_152352:exon4:c.474-2A>T;NM_001098801:exon5:c.474-2A>T)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.474-2A>T;ENST00000402563:exon4:c.474-2A>T;ENST00000592976:exon4:c.474-2A>T;ENST00000591269:exon5:c.474-2A>T)	.	.	0.999988247793601	0.93
18	13671974	T	C	18	13671975	y	y	splicing	FAM210A(NM_152352:exon4:c.474-2A>G;NM_001098801:exon5:c.474-2A>G)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.474-2A>G;ENST00000402563:exon4:c.474-2A>G;ENST00000592976:exon4:c.474-2A>G;ENST00000591269:exon5:c.474-2A>G)	.	.	0.999988247793601	0.93
18	13671974	T	G	18	13671975	y	y	splicing	FAM210A(NM_152352:exon4:c.474-2A>C;NM_001098801:exon5:c.474-2A>C)	.	.	splicing	ENSG00000177150(ENST00000322247:exon5:c.474-2A>C;ENST00000402563:exon4:c.474-2A>C;ENST00000592976:exon4:c.474-2A>C;ENST00000591269:exon5:c.474-2A>C)	.	.	0.999988247793601	0.93
18	13671975	A	C	18	13671976	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.962908503618249	0.616
18	13671975	A	G	18	13671976	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.94212718372579E-5	0.05
18	13671975	A	T	18	13671976	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00209530412424058	0.136
18	13671976	C	A	18	13671977	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.46647859697407E-5	0.008
18	13671976	C	G	18	13671977	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.58330265093428E-5	0.016
18	13671976	C	T	18	13671977	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.55578910023019E-5	0.0
18	13671977	A	C	18	13671978	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.79219723139799E-4	0.204
18	13671977	A	G	18	13671978	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.77525105763376E-5	0.042
18	13671977	A	T	18	13671978	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.989665623250207	0.898
18	13671978	A	C	18	13671979	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00120727439701529	0.112
18	13671978	A	G	18	13671979	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.15081928675396E-4	0.01
18	13671978	A	T	18	13671979	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00339639955871691	0.09
18	13671979	A	C	18	13671980	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.90207288024082E-5	0.036
18	13671979	A	G	18	13671980	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.33599082577882E-5	0.0
18	13671979	A	T	18	13671980	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.49348987577479E-4	0.022
18	13671980	A	C	18	13671981	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.46290391955004E-4	0.072
18	13671980	A	G	18	13671981	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.22093720821568E-4	0.016
18	13671980	A	T	18	13671981	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.98263066878402E-4	0.082
18	13671981	A	C	18	13671982	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.14195626734594E-4	0.208
18	13671981	A	G	18	13671982	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.55800654667944E-4	0.008
18	13671981	A	T	18	13671982	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.98522127842812E-4	0.17
18	13671982	A	C	18	13671983	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00115848393541605	0.266
18	13671982	A	G	18	13671983	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.82261864068512E-4	0.044
18	13671982	A	T	18	13671983	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00327283010848386	0.264
18	13671983	A	C	18	13671984	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.62113241531287E-5	0.082
18	13671983	A	G	18	13671984	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.10432773816391E-5	0.012
18	13671983	A	T	18	13671984	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.11427743953842E-5	0.06
18	13671984	A	C	18	13671985	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00104134198405154	0.268
18	13671984	A	G	18	13671985	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.47717159980134E-4	0.044
18	13671984	A	T	18	13671985	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00118341514055822	0.26
18	13681596	A	C	18	13681597	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00496045008546871	0.034
18	13681596	A	G	18	13681597	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00464429886053217	0.036
18	13681596	A	T	18	13681597	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00496045008546871	0.03
18	13681597	A	C	18	13681598	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.47952223173846E-4	0.024
18	13681597	A	G	18	13681598	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.46706626756971E-4	0.002
18	13681597	A	T	18	13681598	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.47952223173846E-4	0.002
18	13681598	A	C	18	13681599	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.988758471861376	0.852
18	13681598	A	G	18	13681599	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.980813576970814	0.82
18	13681598	A	T	18	13681599	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.991586276193852	0.784
18	13681599	C	A	18	13681600	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999846623754486	0.916
18	13681599	C	G	18	13681600	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.998193131774639	0.996
18	13681599	C	T	18	13681600	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999306932154652	0.986
18	13681600	T	A	18	13681601	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.996275401813918	0.912
18	13681600	T	C	18	13681601	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.99812747131266	0.952
18	13681600	T	G	18	13681601	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.99860616481955	0.922
18	13681601	T	A	18	13681602	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999134050079756	0.924
18	13681601	T	C	18	13681602	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.64845348467165	0.4
18	13681601	T	G	18	13681602	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999813548124142	0.95
18	13681602	A	C	18	13681603	y	y	splicing	FAM210A(NM_152352:exon3:c.473+2T>G;NM_001098801:exon4:c.473+2T>G)	.	.	splicing	ENSG00000177150(ENST00000322247:exon4:c.473+2T>G;ENST00000402563:exon3:c.473+2T>G;ENST00000592976:exon3:c.473+2T>G;ENST00000591269:exon4:c.473+2T>G)	.	.	0.999989917668626	0.928
18	13681602	A	G	18	13681603	y	y	splicing	FAM210A(NM_152352:exon3:c.473+2T>C;NM_001098801:exon4:c.473+2T>C)	.	.	splicing	ENSG00000177150(ENST00000322247:exon4:c.473+2T>C;ENST00000402563:exon3:c.473+2T>C;ENST00000592976:exon3:c.473+2T>C;ENST00000591269:exon4:c.473+2T>C)	.	.	0.992535761479193	0.628
18	13681602	A	T	18	13681603	y	y	splicing	FAM210A(NM_152352:exon3:c.473+2T>A;NM_001098801:exon4:c.473+2T>A)	.	.	splicing	ENSG00000177150(ENST00000322247:exon4:c.473+2T>A;ENST00000402563:exon3:c.473+2T>A;ENST00000592976:exon3:c.473+2T>A;ENST00000591269:exon4:c.473+2T>A)	.	.	0.999989917668626	0.928
18	13681603	C	A	18	13681604	y	y	splicing	FAM210A(NM_152352:exon3:c.473+1G>T;NM_001098801:exon4:c.473+1G>T)	.	.	splicing	ENSG00000177150(ENST00000322247:exon4:c.473+1G>T;ENST00000402563:exon3:c.473+1G>T;ENST00000592976:exon3:c.473+1G>T;ENST00000591269:exon4:c.473+1G>T)	.	.	0.999981760802075	0.938
18	13681603	C	G	18	13681604	y	y	splicing	FAM210A(NM_152352:exon3:c.473+1G>C;NM_001098801:exon4:c.473+1G>C)	.	.	splicing	ENSG00000177150(ENST00000322247:exon4:c.473+1G>C;ENST00000402563:exon3:c.473+1G>C;ENST00000592976:exon3:c.473+1G>C;ENST00000591269:exon4:c.473+1G>C)	.	.	0.999981760802075	0.938
18	13681603	C	T	18	13681604	y	y	splicing	FAM210A(NM_152352:exon3:c.473+1G>A;NM_001098801:exon4:c.473+1G>A)	.	.	splicing	ENSG00000177150(ENST00000322247:exon4:c.473+1G>A;ENST00000402563:exon3:c.473+1G>A;ENST00000592976:exon3:c.473+1G>A;ENST00000591269:exon4:c.473+1G>A)	.	.	0.999981760802075	0.938
18	13681604	T	A	18	13681605	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon2:c.A473T:p.K158I;FAM210A:NM_001098801:exon3:c.A473T:p.K158I;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon3:c.A473T:p.K158I;ENSG00000177150:ENST00000322247:exon3:c.A473T:p.K158I;ENSG00000177150:ENST00000592976:exon2:c.A473T:p.K158I;ENSG00000177150:ENST00000402563:exon2:c.A473T:p.K158I;	0.792403494535748	0.678
18	13681604	T	C	18	13681605	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon2:c.A473G:p.K158R;FAM210A:NM_001098801:exon3:c.A473G:p.K158R;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon3:c.A473G:p.K158R;ENSG00000177150:ENST00000322247:exon3:c.A473G:p.K158R;ENSG00000177150:ENST00000592976:exon2:c.A473G:p.K158R;ENSG00000177150:ENST00000402563:exon2:c.A473G:p.K158R;	0.230446767238204	0.4
18	13681604	T	G	18	13681605	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon2:c.A473C:p.K158T;FAM210A:NM_001098801:exon3:c.A473C:p.K158T;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon3:c.A473C:p.K158T;ENSG00000177150:ENST00000322247:exon3:c.A473C:p.K158T;ENSG00000177150:ENST00000592976:exon2:c.A473C:p.K158T;ENSG00000177150:ENST00000402563:exon2:c.A473C:p.K158T;	0.367058041251443	0.692
18	13681605	T	A	18	13681606	y	y	exonic	FAM210A	stopgain SNV	FAM210A:NM_152352:exon2:c.A472T:p.K158X;FAM210A:NM_001098801:exon3:c.A472T:p.K158X;	exonic	ENSG00000177150	stopgain SNV	ENSG00000177150:ENST00000591269:exon3:c.A472T:p.K158X;ENSG00000177150:ENST00000322247:exon3:c.A472T:p.K158X;ENSG00000177150:ENST00000592976:exon2:c.A472T:p.K158X;ENSG00000177150:ENST00000402563:exon2:c.A472T:p.K158X;	0.998314614200087	0.938
18	13681605	T	C	18	13681606	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon2:c.A472G:p.K158E;FAM210A:NM_001098801:exon3:c.A472G:p.K158E;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon3:c.A472G:p.K158E;ENSG00000177150:ENST00000322247:exon3:c.A472G:p.K158E;ENSG00000177150:ENST00000592976:exon2:c.A472G:p.K158E;ENSG00000177150:ENST00000402563:exon2:c.A472G:p.K158E;	0.998509945362943	0.918
18	13681605	T	G	18	13681606	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon2:c.A472C:p.K158Q;FAM210A:NM_001098801:exon3:c.A472C:p.K158Q;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon3:c.A472C:p.K158Q;ENSG00000177150:ENST00000322247:exon3:c.A472C:p.K158Q;ENSG00000177150:ENST00000592976:exon2:c.A472C:p.K158Q;ENSG00000177150:ENST00000402563:exon2:c.A472C:p.K158Q;	0.99718394185119	0.946
18	13681606	C	A	18	13681607	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon2:c.G471T:p.L157F;FAM210A:NM_001098801:exon3:c.G471T:p.L157F;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon3:c.G471T:p.L157F;ENSG00000177150:ENST00000322247:exon3:c.G471T:p.L157F;ENSG00000177150:ENST00000592976:exon2:c.G471T:p.L157F;ENSG00000177150:ENST00000402563:exon2:c.G471T:p.L157F;	3.64768705367025E-4	0.124
18	13681606	C	G	18	13681607	y	y	exonic	FAM210A	nonsynonymous SNV	FAM210A:NM_152352:exon2:c.G471C:p.L157F;FAM210A:NM_001098801:exon3:c.G471C:p.L157F;	exonic	ENSG00000177150	nonsynonymous SNV	ENSG00000177150:ENST00000591269:exon3:c.G471C:p.L157F;ENSG00000177150:ENST00000322247:exon3:c.G471C:p.L157F;ENSG00000177150:ENST00000592976:exon2:c.G471C:p.L157F;ENSG00000177150:ENST00000402563:exon2:c.G471C:p.L157F;	1.69592189375448E-5	0.01
18	13681606	C	T	18	13681607	y	y	exonic	FAM210A	synonymous SNV	FAM210A:NM_152352:exon2:c.G471A:p.L157L;FAM210A:NM_001098801:exon3:c.G471A:p.L157L;	exonic	ENSG00000177150	synonymous SNV	ENSG00000177150:ENST00000591269:exon3:c.G471A:p.L157L;ENSG00000177150:ENST00000322247:exon3:c.G471A:p.L157L;ENSG00000177150:ENST00000592976:exon2:c.G471A:p.L157L;ENSG00000177150:ENST00000402563:exon2:c.G471A:p.L157L;	1.97018975761258E-5	0.002
18	13682103	T	A	18	13682104	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.0044233648882073	0.048
18	13682103	T	C	18	13682104	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.00165235156641822	0.02
18	13682103	T	G	18	13682104	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.00121717502928721	0.022
18	13682104	T	A	18	13682105	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.0123765251953182	0.142
18	13682104	T	C	18	13682105	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	7.53184704401065E-4	0.028
18	13682104	T	G	18	13682105	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.00505220473419367	0.128
18	13682105	C	A	18	13682106	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999944853213407	0.928
18	13682105	C	G	18	13682106	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999944853213407	0.914
18	13682105	C	T	18	13682106	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999944853213407	0.928
18	13682106	T	A	18	13682107	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999948569839955	0.882
18	13682106	T	C	18	13682107	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999919764818397	0.846
18	13682106	T	G	18	13682107	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999921828518018	0.872
18	13682107	A	C	18	13682108	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.986676995063828	0.628
18	13682107	A	G	18	13682108	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.03669677946345E-4	0.036
18	13682107	A	T	18	13682108	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.35263892516228	0.386
18	13682108	C	A	18	13682109	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.11831777102606E-5	0.0
18	13682108	C	G	18	13682109	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	9.02739642619877E-6	0.0
18	13682108	C	T	18	13682109	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.16457616162359E-5	0.0
18	13682109	A	C	18	13682110	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.522459175163657	0.51
18	13682109	A	G	18	13682110	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	8.07034746868569E-4	0.036
18	13682109	A	T	18	13682110	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.997681454455747	0.946
18	13682110	A	C	18	13682111	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00786947759233164	0.228
18	13682110	A	G	18	13682111	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.44801252400492E-5	0.012
18	13682110	A	T	18	13682111	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00715039129298996	0.214
18	13682111	A	C	18	13682112	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.256577790682633	0.4
18	13682111	A	G	18	13682112	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.74217012753122E-4	0.036
18	13682111	A	T	18	13682112	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.642684976323252	0.504
18	13682112	G	A	18	13682113	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.51665036529237E-5	0.05
18	13682112	G	C	18	13682113	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.28291021319055E-4	0.152
18	13682112	G	T	18	13682113	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.8862966361093E-4	0.124
18	13682113	A	C	18	13682114	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0298706148639738	0.418
18	13682113	A	G	18	13682114	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.50905829390113E-4	0.036
18	13682113	A	T	18	13682114	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.100181581054205	0.424
18	13682114	C	A	18	13682115	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	9.3535932280024E-5	0.058
18	13682114	C	G	18	13682115	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	8.64456620210137E-5	0.04
18	13682114	C	T	18	13682115	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.08352375851118E-5	0.064
18	13682115	A	C	18	13682116	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.452139256088308	0.392
18	13682115	A	G	18	13682116	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.92968294291532E-4	0.046
18	13682115	A	T	18	13682116	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.995079015079667	0.668
18	13682116	A	C	18	13682117	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999492132573165	0.738
18	13682116	A	G	18	13682117	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.76156666220967E-4	0.072
18	13682116	A	T	18	13682117	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00789817845118711	0.346
18	13687734	G	A	18	13687735	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.60815764102212E-5	0.002
18	13687734	G	C	18	13687735	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.60815764102212E-5	0.002
18	13687734	G	T	18	13687735	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.60815764102212E-5	0.002
18	13687735	C	A	18	13687736	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.6895557076224E-5	0.002
18	13687735	C	G	18	13687736	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.6895557076224E-5	0.02
18	13687735	C	T	18	13687736	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.6895557076224E-5	0.002
18	13687736	A	C	18	13687737	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.32629805001177E-4	0.11
18	13687736	A	G	18	13687737	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00129950280304248	0.17
18	13687736	A	T	18	13687737	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.26763227040944E-4	0.152
18	13687737	C	A	18	13687738	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.294196222455018	0.262
18	13687737	C	G	18	13687738	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.261172258772809	0.348
18	13687737	C	T	18	13687738	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.224000821026657	0.302
18	13687738	T	A	18	13687739	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.142827458296222	0.412
18	13687738	T	C	18	13687739	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.204768275616492	0.5
18	13687738	T	G	18	13687739	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0386177912571233	0.328
18	13687739	T	A	18	13687740	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.862089694155932	0.616
18	13687739	T	C	18	13687740	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.50429472466178E-4	0.064
18	13687739	T	G	18	13687740	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.925090173414686	0.648
18	13687740	A	C	18	13687741	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.99637861143533	0.4
18	13687740	A	G	18	13687741	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.259608294883503	0.42
18	13687740	A	T	18	13687741	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.99637861143533	0.408
18	13687741	C	A	18	13687742	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999968624618023	0.644
18	13687741	C	G	18	13687742	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999968624618023	0.644
18	13687741	C	T	18	13687742	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999968624618023	0.646
18	13687742	C	A	18	13687743	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.438417278472404	0.576
18	13687742	C	G	18	13687743	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.750043931682865	0.588
18	13687742	C	T	18	13687743	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.176735449938819	0.45
18	13687743	C	A	18	13687744	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	1.26373375324866E-4	0.026
18	13687743	C	G	18	13687744	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.66139420138318E-5	0.004
18	13687743	C	T	18	13687744	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	1.1524022535228E-4	0.082
18	13687744	T	A	18	13687745	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	7.58809092919946E-5	0.11
18	13687744	T	C	18	13687745	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	1.79251656820585E-5	0.004
18	13687744	T	G	18	13687745	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	1.8587240798628E-5	0.0
18	13687880	T	A	18	13687881	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	9.29012693206568E-5	0.01
18	13687880	T	C	18	13687881	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	5.35712433965255E-5	0.012
18	13687880	T	G	18	13687881	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	2.60439810413034E-5	0.004
18	13687881	T	A	18	13687882	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.00613505649862978	0.112
18	13687881	T	C	18	13687882	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	2.6636678282505E-5	0.002
18	13687881	T	G	18	13687882	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.00249335207710161	0.14
18	13687882	C	A	18	13687883	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999968624618023	0.646
18	13687882	C	G	18	13687883	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999968624618023	0.646
18	13687882	C	T	18	13687883	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999968624618023	0.638
18	13687883	T	A	18	13687884	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999980535492709	0.696
18	13687883	T	C	18	13687884	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999956910803912	0.622
18	13687883	T	G	18	13687884	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999956910803912	0.622
18	13687884	G	A	18	13687885	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.15124052367356E-4	0.004
18	13687884	G	C	18	13687885	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.977575253544388	0.63
18	13687884	G	T	18	13687885	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.234364103074536	0.35
18	13687885	A	C	18	13687886	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.56500769963715E-5	0.03
18	13687885	A	G	18	13687886	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.39858796493961E-5	0.01
18	13687885	A	T	18	13687886	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.29649759305904E-5	0.002
18	13687886	G	A	18	13687887	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.65359373790916E-5	0.002
18	13687886	G	C	18	13687887	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0239932868840351	0.264
18	13687886	G	T	18	13687887	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0074731620922251	0.132
18	13687887	G	A	18	13687888	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	8.54985141201337E-5	0.004
18	13687887	G	C	18	13687888	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00192520897849034	0.15
18	13687887	G	T	18	13687888	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00178400685317611	0.158
18	13687888	A	C	18	13687889	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00732781609300316	0.072
18	13687888	A	G	18	13687889	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.89523207431553E-5	0.004
18	13687888	A	T	18	13687889	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.0283059287022292	0.126
18	13687889	G	A	18	13687890	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.98202603288988E-5	0.006
18	13687889	G	C	18	13687890	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.52367805740587E-4	0.086
18	13687889	G	T	18	13687890	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.73921091112477E-4	0.052
18	13687890	G	A	18	13687891	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.47226774734786E-5	0.002
18	13687890	G	C	18	13687891	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.37621055615416E-4	0.098
18	13687890	G	T	18	13687891	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.86450190348401E-5	0.08
18	13687891	C	A	18	13687892	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.65047354028333E-5	0.0
18	13687891	C	G	18	13687892	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	9.63065284904611E-6	0.0
18	13687891	C	T	18	13687892	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	7.9171721461825E-5	0.0
18	13687892	A	C	18	13687893	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00204024467199739	0.198
18	13687892	A	G	18	13687893	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.24692657818433E-5	0.066
18	13687892	A	T	18	13687893	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999764519040212	0.944
18	13687893	A	C	18	13687894	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00183551291653195	0.112
18	13687893	A	G	18	13687894	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.85399134426454E-4	0.02
18	13687893	A	T	18	13687894	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00350272566915829	0.12
18	13697538	A	C	18	13697539	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.64259127652368E-5	0.002
18	13697538	A	G	18	13697539	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.64259127652368E-5	0.002
18	13697538	A	T	18	13697539	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.006
18	13697539	C	A	18	13697540	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.87733132348539E-5	0.0
18	13697539	C	G	18	13697540	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.87733132348539E-5	0.0
18	13697539	C	T	18	13697540	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.18372186627074E-5	0.0
18	13697540	T	A	18	13697541	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.008
18	13697540	T	C	18	13697541	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.006
18	13697540	T	G	18	13697541	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.006
18	13697541	C	A	18	13697542	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.76699047081367E-5	0.006
18	13697541	C	G	18	13697542	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.76699047081367E-5	0.008
18	13697541	C	T	18	13697542	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.76699047081367E-5	0.006
18	13697542	T	A	18	13697543	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.10375415512646E-5	0.0
18	13697542	T	C	18	13697543	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.10375415512646E-5	0.0
18	13697542	T	G	18	13697543	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.10375415512646E-5	0.0
18	13697543	T	A	18	13697544	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.10375415512646E-5	0.0
18	13697543	T	C	18	13697544	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.008
18	13697543	T	G	18	13697544	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.01
18	13697544	A	C	18	13697545	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	9.04574960907652E-5	0.0
18	13697544	A	G	18	13697545	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	9.04574960907652E-5	0.0
18	13697544	A	T	18	13697545	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	1.67899984387059E-4	0.0
18	13697545	C	A	18	13697546	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	2.9537400818045E-5	0.0
18	13697545	C	G	18	13697546	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	2.9537400818045E-5	0.0
18	13697545	C	T	18	13697546	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	6.12550603000157E-5	0.0
18	13697546	C	A	18	13697547	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.56483984486642E-5	0.0
18	13697546	C	G	18	13697547	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.56483984486642E-5	0.002
18	13697546	C	T	18	13697547	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.56483984486642E-5	0.0
18	13697547	A	C	18	13697548	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	5.84430896923724E-5	0.0
18	13697547	A	G	18	13697548	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	5.84430896923724E-5	0.0
18	13697547	A	T	18	13697548	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	2.66426746904339E-5	0.0
18	13697548	T	A	18	13697549	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	2.66426746904339E-5	0.0
18	13697548	T	C	18	13697549	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	5.84430896923724E-5	0.002
18	13697548	T	G	18	13697549	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	4.84247199350714E-5	0.0
18	13697672	C	A	18	13697673	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.56483984486642E-5	0.002
18	13697672	C	G	18	13697673	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	4.76699047081367E-5	0.052
18	13697672	C	T	18	13697673	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.56483984486642E-5	0.0
18	13697673	T	A	18	13697674	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.10375415512646E-5	0.0
18	13697673	T	C	18	13697674	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.10375415512646E-5	0.002
18	13697673	T	G	18	13697674	n	y	intronic	FAM210A	.	.	UTR5	ENSG00000177150	.	.	3.10375415512646E-5	0.002
18	13697674	C	A	18	13697675	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	6.12550603000157E-5	0.0
18	13697674	C	G	18	13697675	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	6.12550603000157E-5	0.0
18	13697674	C	T	18	13697675	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	6.12550603000157E-5	0.0
18	13697675	T	A	18	13697676	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	9.04574960907652E-5	0.0
18	13697675	T	C	18	13697676	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	5.52521099548755E-5	0.0
18	13697675	T	G	18	13697676	n	y	intronic	FAM210A	.	.	splicing	ENSG00000177150	.	.	5.52521099548755E-5	0.0
18	13697676	G	A	18	13697677	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.87733132348539E-5	0.0
18	13697676	G	C	18	13697677	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.87733132348539E-5	0.0
18	13697676	G	T	18	13697677	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.87733132348539E-5	0.0
18	13697677	T	A	18	13697678	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.008
18	13697677	T	C	18	13697678	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.64259127652368E-5	0.0
18	13697677	T	G	18	13697678	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.64259127652368E-5	0.0
18	13697678	C	A	18	13697679	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.18372186627074E-5	0.004
18	13697678	C	G	18	13697679	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.18372186627074E-5	0.0
18	13697678	C	T	18	13697679	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.76699047081367E-5	0.008
18	13697679	T	A	18	13697680	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.10375415512646E-5	0.014
18	13697679	T	C	18	13697680	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.006
18	13697679	T	G	18	13697680	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.006
18	13697680	C	A	18	13697681	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.87733132348539E-5	0.0
18	13697680	C	G	18	13697681	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.87733132348539E-5	0.0
18	13697680	C	T	18	13697681	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.87733132348539E-5	0.0
18	13697681	A	C	18	13697682	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.006
18	13697681	A	G	18	13697682	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.006
18	13697681	A	T	18	13697682	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.15042193520174E-5	0.022
18	13697682	A	C	18	13697683	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.82928348903096E-5	0.0
18	13697682	A	G	18	13697683	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.54514919119684E-5	0.0
18	13697682	A	T	18	13697683	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.52521099548755E-5	0.0
18	13697683	A	C	18	13697684	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.42909120159312E-5	0.0
18	13697683	A	G	18	13697684	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.52521099548755E-5	0.0
18	13697683	A	T	18	13697684	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	9.04574960907652E-5	0.0
18	13697684	A	C	18	13697685	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.52521099548755E-5	0.0
18	13697684	A	G	18	13697685	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.52521099548755E-5	0.0
18	13697684	A	T	18	13697685	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	9.04574960907652E-5	0.0
18	13697685	A	C	18	13697686	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.52521099548755E-5	0.0
18	13697685	A	G	18	13697686	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.52521099548755E-5	0.0
18	13697685	A	T	18	13697686	n	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	9.04574960907652E-5	0.0
18	13726320	C	A	18	13726321	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.00898724222648565	0.05
18	13726320	C	G	18	13726321	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.047841755899981	0.058
18	13726320	C	T	18	13726321	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.020227873119462	0.09
18	13726321	A	C	18	13726322	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.94263849306954E-4	0.014
18	13726321	A	G	18	13726322	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.85443444200369E-4	0.016
18	13726321	A	T	18	13726322	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	4.46358038147951E-4	0.028
18	13726322	T	A	18	13726323	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.03876922957362E-5	0.036
18	13726322	T	C	18	13726323	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	5.91891140764598E-5	0.018
18	13726322	T	G	18	13726323	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	2.79185431053251E-4	0.044
18	13726323	G	A	18	13726324	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.71495737687986E-4	0.04
18	13726323	G	C	18	13726324	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	8.23251903457537E-5	0.016
18	13726323	G	T	18	13726324	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	6.07675666564794E-5	0.004
18	13726324	C	A	18	13726325	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	3.51768188387835E-4	0.044
18	13726324	C	G	18	13726325	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.94503808998654E-4	0.134
18	13726324	C	T	18	13726325	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	1.65256036144862E-4	0.122
18	13726325	T	A	18	13726326	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999973127873231	0.984
18	13726325	T	C	18	13726326	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999682488239359	0.934
18	13726325	T	G	18	13726326	y	y	intronic	FAM210A	.	.	intronic	ENSG00000177150	.	.	0.999983551029496	0.97
18	13726326	A	C	18	13726327	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999978986619032	0.962
18	13726326	A	G	18	13726327	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.946993985709348	0.58
18	13726326	A	T	18	13726327	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999978791067592	0.96
18	13726327	C	A	18	13726328	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.99992617752697	0.952
18	13726327	C	G	18	13726328	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.999923602592422	0.942
18	13726327	C	T	18	13726328	y	y	splicing	FAM210A	.	.	splicing	ENSG00000177150	.	.	0.99992617752697	0.954
18	13726328	C	A	18	13726329	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.999985978811371	0.998
18	13726328	C	G	18	13726329	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.999993598168859	1.0
18	13726328	C	T	18	13726329	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.999984983199827	1.0
18	13726329	T	A	18	13726330	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.999694963643785	0.938
18	13726329	T	C	18	13726330	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.999631372510512	0.92
18	13726329	T	G	18	13726330	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.999222348740341	0.91
18	13726330	C	A	18	13726331	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.760213214420239	0.442
18	13726330	C	G	18	13726331	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.0198262888850212	0.034
18	13726330	C	T	18	13726331	y	y	UTR5	FAM210A	.	.	UTR5	ENSG00000177150	.	.	0.0304254585956691	0.048
18	13726726	C	A	18	13726727	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.73760298884343E-4	0.024
18	13726726	C	G	18	13726727	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.54156417750472E-4	0.03
18	13726726	C	T	18	13726727	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.00143355237062245	0.108
18	13726727	T	A	18	13726728	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.34053384355129E-4	0.136
18	13726727	T	C	18	13726728	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.80279183059665E-4	0.012
18	13726727	T	G	18	13726728	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	3.78402919901904E-4	0.004
18	13726728	G	A	18	13726729	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.973540282203656	0.842
18	13726728	G	C	18	13726729	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.998008732638914	0.678
18	13726728	G	T	18	13726729	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.978365954064867	0.8
18	13726729	G	A	18	13726730	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999960200702261	0.936
18	13726729	G	C	18	13726730	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999945530492988	0.898
18	13726729	G	T	18	13726730	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999960200702261	0.934
18	13726730	T	A	18	13726731	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999978672009528	0.934
18	13726730	T	C	18	13726731	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999889408471706	0.892
18	13726730	T	G	18	13726731	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999978672009528	0.932
18	13726731	G	A	18	13726732	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.28677872108501E-4	0.018
18	13726731	G	C	18	13726732	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.912454811876985	0.634
18	13726731	G	T	18	13726732	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.960960053778748	0.62
18	13726732	A	C	18	13726733	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.663531739780305	0.524
18	13726732	A	G	18	13726733	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.982596342533771	0.774
18	13726732	A	T	18	13726733	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.988707231816939	0.73
18	13726733	G	A	18	13726734	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99960333821612	0.95
18	13726733	G	C	18	13726734	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999880001200112	0.904
18	13726733	G	T	18	13726734	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999691713005034	0.934
18	13726734	T	A	18	13726735	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.908381886043957	0.51
18	13726734	T	C	18	13726735	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.905672528526474	0.516
18	13726734	T	G	18	13726735	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.392735600170852	0.332
18	13726735	G	A	18	13726736	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.45190406994891E-4	0.002
18	13726735	G	C	18	13726736	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.01858361964809E-4	0.002
18	13726735	G	T	18	13726736	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.54250364357861E-4	0.002
18	13726736	T	A	18	13726737	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.15267776820636E-5	0.0
18	13726736	T	C	18	13726737	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.91564032431422E-5	0.0
18	13726736	T	G	18	13726737	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.99365176708974E-4	0.004
18	13726862	C	A	18	13726863	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	5.40839623268995E-5	0.0
18	13726862	C	G	18	13726863	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	5.40839623268995E-5	0.0
18	13726862	C	T	18	13726863	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	5.40839623268995E-5	0.0
18	13726863	G	A	18	13726864	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	7.48293208623238E-5	0.0
18	13726863	G	C	18	13726864	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	7.48293208623238E-5	0.0
18	13726863	G	T	18	13726864	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	7.48293208623238E-5	0.0
18	13726864	C	A	18	13726865	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	4.92238065260132E-5	0.0
18	13726864	C	G	18	13726865	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	3.69930370103191E-5	0.0
18	13726864	C	T	18	13726865	n	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	6.27477746119029E-5	0.0
18	13726865	G	A	18	13726866	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654	.	.	1.18427287326851E-4	0.02
18	13726865	G	C	18	13726866	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654	.	.	1.01778106764093E-4	0.014
18	13726865	G	T	18	13726866	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654	.	.	1.01778106764093E-4	0.014
18	13726866	T	A	18	13726867	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654	.	.	6.67601383604536E-5	0.002
18	13726866	T	C	18	13726867	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654	.	.	6.67601383604536E-5	0.002
18	13726866	T	G	18	13726867	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654	.	.	6.67601383604536E-5	0.002
18	13726867	G	A	18	13726868	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.97104693658708E-4	0.018
18	13726867	G	C	18	13726868	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.46278141447307E-4	0.018
18	13726867	G	T	18	13726868	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.97104693658708E-4	0.018
18	13726868	G	A	18	13726869	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.96378818221959E-5	0.0
18	13726868	G	C	18	13726869	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.96378818221959E-5	0.0
18	13726868	G	T	18	13726869	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.96378818221959E-5	0.0
18	13726869	G	A	18	13726870	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.59164209767217E-4	0.02
18	13726869	G	C	18	13726870	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.52559106735794E-4	0.016
18	13726869	G	T	18	13726870	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.55324152907175E-4	0.016
18	13726870	T	A	18	13726871	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.25950167179411E-5	0.004
18	13726870	T	C	18	13726871	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.6714355815838E-5	0.004
18	13726870	T	G	18	13726871	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.6714355815838E-5	0.004
18	13726871	C	A	18	13726872	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.19348260541807E-5	0.0
18	13726871	C	G	18	13726872	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.19348260541807E-5	0.0
18	13726871	C	T	18	13726872	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.36681691224865E-5	0.0
18	13726872	T	A	18	13726873	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00217586145985526	0.024
18	13726872	T	C	18	13726873	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00217586145985526	0.016
18	13726872	T	G	18	13726873	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00217586145985526	0.016
18	13730614	C	A	18	13730615	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.00167211517946794	0.064
18	13730614	C	G	18	13730615	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.00134855927970339	0.1
18	13730614	C	T	18	13730615	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.41863925174179E-4	0.012
18	13730615	C	A	18	13730616	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.73368856628607E-4	0.042
18	13730615	C	G	18	13730616	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.74294773742593E-4	0.036
18	13730615	C	T	18	13730616	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.52515013039301E-5	0.0
18	13730616	T	A	18	13730617	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.00258729334293847	0.302
18	13730616	T	C	18	13730617	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	4.85653418043017E-5	0.11
18	13730616	T	G	18	13730617	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.0056967179962302	0.442
18	13730617	T	A	18	13730618	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.278240008309032	0.468
18	13730617	T	C	18	13730618	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.00160329433567492	0.106
18	13730617	T	G	18	13730618	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.261568072691103	0.472
18	13730618	A	C	18	13730619	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.67190155668058E-5	0.004
18	13730618	A	G	18	13730619	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	9.08020487754793E-6	0.0
18	13730618	A	T	18	13730619	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.67944982512943E-5	0.002
18	13730619	C	A	18	13730620	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.90859729082853E-4	0.074
18	13730619	C	G	18	13730620	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.9995291522266	0.642
18	13730619	C	T	18	13730620	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	4.32758511362892E-5	0.004
18	13730620	T	A	18	13730621	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.0262146765993331	0.328
18	13730620	T	C	18	13730621	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	4.28078694141665E-5	0.056
18	13730620	T	G	18	13730621	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.0234798532480959	0.39
18	13730621	A	C	18	13730622	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.69796560328401E-5	0.002
18	13730621	A	G	18	13730622	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.8440204583391E-5	0.002
18	13730621	A	T	18	13730622	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.20543378537447E-5	0.0
18	13730622	A	C	18	13730623	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	6.92884532677486E-5	0.044
18	13730622	A	G	18	13730623	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.951392771609658	0.856
18	13730622	A	T	18	13730623	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.83091469052499E-4	0.018
18	13730623	C	A	18	13730624	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.792293692337342	0.528
18	13730623	C	G	18	13730624	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.997643576411669	0.74
18	13730623	C	T	18	13730624	y	y	intronic	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.37869013816643E-4	0.05
18	13730624	A	C	18	13730625	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.993805744446199	0.382
18	13730624	A	G	18	13730625	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.993805744446199	0.38
18	13730624	A	T	18	13730625	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.995669353393181	0.38
18	13730625	G	A	18	13730626	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999618249043734	0.7
18	13730625	G	C	18	13730626	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999618249043734	0.618
18	13730625	G	T	18	13730626	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999618249043734	0.688
18	13730626	G	A	18	13730627	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	1.89899117137637E-4	0.076
18	13730626	G	C	18	13730627	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.0052219377372752	0.234
18	13730626	G	T	18	13730627	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.193949698124786	0.304
18	13730627	A	C	18	13730628	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	5.69637687599721E-5	0.02
18	13730627	A	G	18	13730628	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.98256940948869E-5	0.008
18	13730627	A	T	18	13730628	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	3.07384823198908E-5	0.008
18	13730752	A	C	18	13730753	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	3.80405568793762E-5	0.0
18	13730752	A	G	18	13730753	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	3.02076984163109E-5	0.002
18	13730752	A	T	18	13730753	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.00140091983108379	0.144
18	13730753	A	C	18	13730754	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.125439232174037	0.562
18	13730753	A	G	18	13730754	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.178316940684836	0.388
18	13730753	A	T	18	13730754	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.332264874463636	0.594
18	13730754	G	A	18	13730755	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.950892740262701	0.734
18	13730754	G	C	18	13730755	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.99893281835402	0.6
18	13730754	G	T	18	13730755	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	0.999208896860597	0.876
18	13730755	G	A	18	13730756	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999179633306537	0.49
18	13730755	G	C	18	13730756	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999179633306537	0.51
18	13730755	G	T	18	13730756	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999179633306537	0.504
18	13730756	T	A	18	13730757	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.994818629483213	0.3
18	13730756	T	C	18	13730757	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.20602676985633	0.466
18	13730756	T	G	18	13730757	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.994818629483213	0.306
18	13730757	A	C	18	13730758	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.992650291833993	0.656
18	13730757	A	G	18	13730758	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0376314434222799	0.446
18	13730757	A	T	18	13730758	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.885590337958218	0.56
18	13730758	T	A	18	13730759	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00156472754388111	0.116
18	13730758	T	C	18	13730759	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.32325018832545E-4	0.016
18	13730758	T	G	18	13730759	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.71929224984778E-4	0.002
18	13730759	G	A	18	13730760	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.135617009850117	0.3
18	13730759	G	C	18	13730760	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.109621340714342	0.348
18	13730759	G	T	18	13730760	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0868746429617627	0.294
18	13730760	T	A	18	13730761	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00161372019269579	0.094
18	13730760	T	C	18	13730761	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0014359978814266	0.154
18	13730760	T	G	18	13730761	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.71824280395239E-4	0.068
18	13730761	A	C	18	13730762	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00149476155890927	0.012
18	13730761	A	G	18	13730762	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00150905800259624	0.014
18	13730761	A	T	18	13730762	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00150905800259624	0.012
18	13730762	G	A	18	13730763	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.3004317960578E-5	0.0
18	13730762	G	C	18	13730763	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.47348756796826E-5	0.0
18	13730762	G	T	18	13730763	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.47348756796826E-5	0.0
18	13731463	T	A	18	13731464	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0131586615885435	0.294
18	13731463	T	C	18	13731464	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.81660010481747E-4	0.04
18	13731463	T	G	18	13731464	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00631178747318159	0.27
18	13731464	T	A	18	13731465	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00764609912050727	0.252
18	13731464	T	C	18	13731465	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.86174531875849E-4	0.148
18	13731464	T	G	18	13731465	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00211847162130095	0.21
18	13731465	C	A	18	13731466	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.22305308501068E-4	0.026
18	13731465	C	G	18	13731466	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00165033155420267	0.076
18	13731465	C	T	18	13731466	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.0241639572211E-5	0.0
18	13731466	C	A	18	13731467	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.0660657602118E-4	0.058
18	13731466	C	G	18	13731467	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.10029204258044E-4	0.018
18	13731466	C	T	18	13731467	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.81128536761306E-5	0.006
18	13731467	T	A	18	13731468	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.42483377277324E-4	0.02
18	13731467	T	C	18	13731468	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.91268433883977E-5	0.002
18	13731467	T	G	18	13731468	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.38124658242818E-4	0.042
18	13731468	A	C	18	13731469	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.36824979239478E-5	0.01
18	13731468	A	G	18	13731469	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.62982710758705E-5	0.0
18	13731468	A	T	18	13731469	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.45673702696159E-5	0.0
18	13731469	T	A	18	13731470	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00150909583482664	0.122
18	13731469	T	C	18	13731470	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.65900282880076E-5	0.008
18	13731469	T	G	18	13731470	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999777867889403	0.948
18	13731470	T	A	18	13731471	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.109546231812077	0.416
18	13731470	T	C	18	13731471	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00427768678463277	0.19
18	13731470	T	G	18	13731471	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0544449724342083	0.404
18	13731471	C	A	18	13731472	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.11837689942742E-5	0.016
18	13731471	C	G	18	13731472	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.44422720591147E-5	0.008
18	13731471	C	T	18	13731472	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.0453089080885E-5	0.004
18	13731472	T	A	18	13731473	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0045971312264157	0.292
18	13731472	T	C	18	13731473	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.01936180763697E-5	0.002
18	13731472	T	G	18	13731473	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.948451923559375	0.726
18	13731473	A	C	18	13731474	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999941977319723	0.622
18	13731473	A	G	18	13731474	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999941977319723	0.622
18	13731473	A	T	18	13731474	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999941977319723	0.644
18	13731474	G	A	18	13731475	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999941319106881	0.65
18	13731474	G	C	18	13731475	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999941319106881	0.63
18	13731474	G	T	18	13731475	y	y	splicing	RNMT	.	.	splicing	ENSG00000101654	.	.	0.999941319106881	0.638
18	13731475	T	A	18	13731476	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	3.32895791300662E-5	0.002
18	13731475	T	C	18	13731476	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	2.26797230143792E-5	0.016
18	13731475	T	G	18	13731476	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	8.68532380153866E-5	0.144
18	13731476	G	A	18	13731477	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	5.83473694298396E-5	0.056
18	13731476	G	C	18	13731477	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	3.14480713481744E-5	0.06
18	13731476	G	T	18	13731477	y	y	UTR5	RNMT	.	.	UTR5	ENSG00000101654	.	.	5.50819152519284E-5	0.13
18	13731931	A	C	18	13731932	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon3:c.A415C:p.K139Q;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon3:c.A415C:p.K139Q;ENSG00000101654:ENST00000592764:exon3:c.A415C:p.K139Q;ENSG00000101654:ENST00000262173:exon1:c.A415C:p.K139Q;ENSG00000101654:ENST00000543302:exon2:c.A415C:p.K139Q;ENSG00000101654:ENST00000589866:exon2:c.A415C:p.K139Q;	0.0024531701185282	0.02
18	13731931	A	G	18	13731932	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon3:c.A415G:p.K139E;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon3:c.A415G:p.K139E;ENSG00000101654:ENST00000592764:exon3:c.A415G:p.K139E;ENSG00000101654:ENST00000262173:exon1:c.A415G:p.K139E;ENSG00000101654:ENST00000543302:exon2:c.A415G:p.K139E;ENSG00000101654:ENST00000589866:exon2:c.A415G:p.K139E;	0.0188378758373137	0.138
18	13731931	A	T	18	13731932	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon3:c.A415T:p.K139X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000383314:exon3:c.A415T:p.K139X;ENSG00000101654:ENST00000592764:exon3:c.A415T:p.K139X;ENSG00000101654:ENST00000262173:exon1:c.A415T:p.K139X;ENSG00000101654:ENST00000543302:exon2:c.A415T:p.K139X;ENSG00000101654:ENST00000589866:exon2:c.A415T:p.K139X;	0.998287003926963	0.878
18	13731932	A	C	18	13731933	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon3:c.A416C:p.K139T;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon3:c.A416C:p.K139T;ENSG00000101654:ENST00000592764:exon3:c.A416C:p.K139T;ENSG00000101654:ENST00000262173:exon1:c.A416C:p.K139T;ENSG00000101654:ENST00000543302:exon2:c.A416C:p.K139T;ENSG00000101654:ENST00000589866:exon2:c.A416C:p.K139T;	0.639301921844071	0.686
18	13731932	A	G	18	13731933	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon3:c.A416G:p.K139R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon3:c.A416G:p.K139R;ENSG00000101654:ENST00000592764:exon3:c.A416G:p.K139R;ENSG00000101654:ENST00000262173:exon1:c.A416G:p.K139R;ENSG00000101654:ENST00000543302:exon2:c.A416G:p.K139R;ENSG00000101654:ENST00000589866:exon2:c.A416G:p.K139R;	0.609763726029205	0.614
18	13731932	A	T	18	13731933	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon3:c.A416T:p.K139I;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon3:c.A416T:p.K139I;ENSG00000101654:ENST00000592764:exon3:c.A416T:p.K139I;ENSG00000101654:ENST00000262173:exon1:c.A416T:p.K139I;ENSG00000101654:ENST00000543302:exon2:c.A416T:p.K139I;ENSG00000101654:ENST00000589866:exon2:c.A416T:p.K139I;	0.998580358325029	0.896
18	13731933	A	C	18	13731934	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon3:c.A417C:p.K139N;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon3:c.A417C:p.K139N;ENSG00000101654:ENST00000592764:exon3:c.A417C:p.K139N;ENSG00000101654:ENST00000262173:exon1:c.A417C:p.K139N;ENSG00000101654:ENST00000543302:exon2:c.A417C:p.K139N;ENSG00000101654:ENST00000589866:exon2:c.A417C:p.K139N;	2.52352553805897E-4	0.098
18	13731933	A	G	18	13731934	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon3:c.A417G:p.K139K;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon3:c.A417G:p.K139K;ENSG00000101654:ENST00000592764:exon3:c.A417G:p.K139K;ENSG00000101654:ENST00000262173:exon1:c.A417G:p.K139K;ENSG00000101654:ENST00000543302:exon2:c.A417G:p.K139K;ENSG00000101654:ENST00000589866:exon2:c.A417G:p.K139K;	1.59699788661468E-4	0.028
18	13731933	A	T	18	13731934	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon3:c.A417T:p.K139N;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon3:c.A417T:p.K139N;ENSG00000101654:ENST00000592764:exon3:c.A417T:p.K139N;ENSG00000101654:ENST00000262173:exon1:c.A417T:p.K139N;ENSG00000101654:ENST00000543302:exon2:c.A417T:p.K139N;ENSG00000101654:ENST00000589866:exon2:c.A417T:p.K139N;	0.00217767255946701	0.234
18	13731934	G	A	18	13731935	y	y	splicing	RNMT(NM_003799:exon3:c.417+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon2:c.417+1G>A;ENST00000383314:exon3:c.417+1G>A;ENST00000592764:exon3:c.417+1G>A;ENST00000589866:exon2:c.417+1G>A;ENST00000262173:exon1:c.417+1G>A)	.	.	0.999990361384395	0.936
18	13731934	G	C	18	13731935	y	y	splicing	RNMT(NM_003799:exon3:c.417+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon2:c.417+1G>C;ENST00000383314:exon3:c.417+1G>C;ENST00000592764:exon3:c.417+1G>C;ENST00000589866:exon2:c.417+1G>C;ENST00000262173:exon1:c.417+1G>C)	.	.	0.999990361384395	0.936
18	13731934	G	T	18	13731935	y	y	splicing	RNMT(NM_003799:exon3:c.417+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon2:c.417+1G>T;ENST00000383314:exon3:c.417+1G>T;ENST00000592764:exon3:c.417+1G>T;ENST00000589866:exon2:c.417+1G>T;ENST00000262173:exon1:c.417+1G>T)	.	.	0.999990361384395	0.936
18	13731935	T	A	18	13731936	y	y	splicing	RNMT(NM_003799:exon3:c.417+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon2:c.417+2T>A;ENST00000383314:exon3:c.417+2T>A;ENST00000592764:exon3:c.417+2T>A;ENST00000589866:exon2:c.417+2T>A;ENST00000262173:exon1:c.417+2T>A)	.	.	0.999978952611685	0.926
18	13731935	T	C	18	13731936	y	y	splicing	RNMT(NM_003799:exon3:c.417+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon2:c.417+2T>C;ENST00000383314:exon3:c.417+2T>C;ENST00000592764:exon3:c.417+2T>C;ENST00000589866:exon2:c.417+2T>C;ENST00000262173:exon1:c.417+2T>C)	.	.	0.995550480548773	0.664
18	13731935	T	G	18	13731936	y	y	splicing	RNMT(NM_003799:exon3:c.417+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon2:c.417+2T>G;ENST00000383314:exon3:c.417+2T>G;ENST00000592764:exon3:c.417+2T>G;ENST00000589866:exon2:c.417+2T>G;ENST00000262173:exon1:c.417+2T>G)	.	.	0.999978952611685	0.924
18	13731936	A	C	18	13731937	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99988419414187	0.962
18	13731936	A	G	18	13731937	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.996978668675574	0.964
18	13731936	A	T	18	13731937	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999932610313791	0.958
18	13731937	T	A	18	13731938	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.60528620499216E-4	0.056
18	13731937	T	C	18	13731938	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00186742662395746	0.102
18	13731937	T	G	18	13731938	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.79447211621545E-4	0.062
18	13731938	G	A	18	13731939	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999918629254572	0.95
18	13731938	G	C	18	13731939	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999945315497016	0.918
18	13731938	G	T	18	13731939	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99988229396008	0.934
18	13731939	T	A	18	13731940	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.973927899041037	0.67
18	13731939	T	C	18	13731940	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.485547175349189	0.522
18	13731939	T	G	18	13731940	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.984119753699281	0.72
18	13731940	T	A	18	13731941	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.47683093646091E-4	0.0
18	13731940	T	C	18	13731941	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.23909276540206E-4	0.0
18	13731940	T	G	18	13731941	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.23909276540206E-4	0.0
18	13731941	C	A	18	13731942	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.74469029282258E-4	0.056
18	13731941	C	G	18	13731942	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.4331087462951E-4	0.006
18	13731941	C	T	18	13731942	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.03330429450257E-4	0.02
18	13734451	T	A	18	13734452	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00328061012485511	0.264
18	13734451	T	C	18	13734452	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.08204692505957E-4	0.012
18	13734451	T	G	18	13734452	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00155115141248334	0.224
18	13734452	T	A	18	13734453	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.67985262741112E-4	0.16
18	13734452	T	C	18	13734453	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.73575132005453E-4	0.062
18	13734452	T	G	18	13734453	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.82745388127403E-4	0.164
18	13734453	T	A	18	13734454	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.08908200956194E-4	0.066
18	13734453	T	C	18	13734454	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.95677938438098E-5	0.002
18	13734453	T	G	18	13734454	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.92475069872304E-4	0.078
18	13734454	T	A	18	13734455	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.61896698248248E-4	0.078
18	13734454	T	C	18	13734455	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.16104762594445E-4	0.028
18	13734454	T	G	18	13734455	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00180486942117245	0.05
18	13734455	A	C	18	13734456	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.45935277502427E-5	0.002
18	13734455	A	G	18	13734456	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.30922183884188E-4	0.0
18	13734455	A	T	18	13734456	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.10171602048086E-5	0.0
18	13734456	T	A	18	13734457	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.86762112417432E-4	0.054
18	13734456	T	C	18	13734457	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.54716812707654E-5	0.008
18	13734456	T	G	18	13734457	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99965743693553	0.982
18	13734457	T	A	18	13734458	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0417089001558135	0.148
18	13734457	T	C	18	13734458	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.25345643217844E-4	0.01
18	13734457	T	G	18	13734458	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0264280426437231	0.132
18	13734458	T	A	18	13734459	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0873215493171928	0.316
18	13734458	T	C	18	13734459	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.87454461660326E-4	0.042
18	13734458	T	G	18	13734459	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.273072941823647	0.394
18	13734459	T	A	18	13734460	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.43395556848014E-4	0.026
18	13734459	T	C	18	13734460	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.71623267621153E-5	0.042
18	13734459	T	G	18	13734460	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.36928203753704E-5	0.008
18	13734460	C	A	18	13734461	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.98650814428755	0.602
18	13734460	C	G	18	13734461	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999509377545686	0.9
18	13734460	C	T	18	13734461	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.297666351084325	0.162
18	13734461	A	C	18	13734462	y	y	splicing	RNMT(NM_003799:exon4:c.418-2A>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.418-2A>C;ENST00000383314:exon4:c.418-2A>C;ENST00000592764:exon4:c.418-2A>C;ENST00000589866:exon3:c.418-2A>C;ENST00000262173:exon2:c.418-2A>C)	.	.	0.999988247793601	0.93
18	13734461	A	G	18	13734462	y	y	splicing	RNMT(NM_003799:exon4:c.418-2A>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.418-2A>G;ENST00000383314:exon4:c.418-2A>G;ENST00000592764:exon4:c.418-2A>G;ENST00000589866:exon3:c.418-2A>G;ENST00000262173:exon2:c.418-2A>G)	.	.	0.999988247793601	0.93
18	13734461	A	T	18	13734462	y	y	splicing	RNMT(NM_003799:exon4:c.418-2A>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.418-2A>T;ENST00000383314:exon4:c.418-2A>T;ENST00000592764:exon4:c.418-2A>T;ENST00000589866:exon3:c.418-2A>T;ENST00000262173:exon2:c.418-2A>T)	.	.	0.999988247793601	0.93
18	13734462	G	A	18	13734463	y	y	splicing	RNMT(NM_003799:exon4:c.418-1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.418-1G>A;ENST00000383314:exon4:c.418-1G>A;ENST00000592764:exon4:c.418-1G>A;ENST00000589866:exon3:c.418-1G>A;ENST00000262173:exon2:c.418-1G>A)	.	.	0.999990361384395	0.936
18	13734462	G	C	18	13734463	y	y	splicing	RNMT(NM_003799:exon4:c.418-1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.418-1G>C;ENST00000383314:exon4:c.418-1G>C;ENST00000592764:exon4:c.418-1G>C;ENST00000589866:exon3:c.418-1G>C;ENST00000262173:exon2:c.418-1G>C)	.	.	0.999990361384395	0.936
18	13734462	G	T	18	13734463	y	y	splicing	RNMT(NM_003799:exon4:c.418-1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.418-1G>T;ENST00000383314:exon4:c.418-1G>T;ENST00000592764:exon4:c.418-1G>T;ENST00000589866:exon3:c.418-1G>T;ENST00000262173:exon2:c.418-1G>T)	.	.	0.999990361384395	0.936
18	13734463	A	C	18	13734464	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.A418C:p.N140H;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.A418C:p.N140H;ENSG00000101654:ENST00000592764:exon4:c.A418C:p.N140H;ENSG00000101654:ENST00000262173:exon2:c.A418C:p.N140H;ENSG00000101654:ENST00000543302:exon3:c.A418C:p.N140H;ENSG00000101654:ENST00000589866:exon3:c.A418C:p.N140H;	0.0116187404376327	0.144
18	13734463	A	G	18	13734464	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.A418G:p.N140D;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.A418G:p.N140D;ENSG00000101654:ENST00000592764:exon4:c.A418G:p.N140D;ENSG00000101654:ENST00000262173:exon2:c.A418G:p.N140D;ENSG00000101654:ENST00000543302:exon3:c.A418G:p.N140D;ENSG00000101654:ENST00000589866:exon3:c.A418G:p.N140D;	4.04882846011998E-4	0.026
18	13734463	A	T	18	13734464	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.A418T:p.N140Y;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.A418T:p.N140Y;ENSG00000101654:ENST00000592764:exon4:c.A418T:p.N140Y;ENSG00000101654:ENST00000262173:exon2:c.A418T:p.N140Y;ENSG00000101654:ENST00000543302:exon3:c.A418T:p.N140Y;ENSG00000101654:ENST00000589866:exon3:c.A418T:p.N140Y;	0.0188692486041644	0.2
18	13734464	A	C	18	13734465	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.A419C:p.N140T;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.A419C:p.N140T;ENSG00000101654:ENST00000592764:exon4:c.A419C:p.N140T;ENSG00000101654:ENST00000262173:exon2:c.A419C:p.N140T;ENSG00000101654:ENST00000543302:exon3:c.A419C:p.N140T;ENSG00000101654:ENST00000589866:exon3:c.A419C:p.N140T;	5.16531054681028E-4	0.022
18	13734464	A	G	18	13734465	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.A419G:p.N140S;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.A419G:p.N140S;ENSG00000101654:ENST00000592764:exon4:c.A419G:p.N140S;ENSG00000101654:ENST00000262173:exon2:c.A419G:p.N140S;ENSG00000101654:ENST00000543302:exon3:c.A419G:p.N140S;ENSG00000101654:ENST00000589866:exon3:c.A419G:p.N140S;	1.5583711892899E-4	0.036
18	13734464	A	T	18	13734465	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.A419T:p.N140I;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.A419T:p.N140I;ENSG00000101654:ENST00000592764:exon4:c.A419T:p.N140I;ENSG00000101654:ENST00000262173:exon2:c.A419T:p.N140I;ENSG00000101654:ENST00000543302:exon3:c.A419T:p.N140I;ENSG00000101654:ENST00000589866:exon3:c.A419T:p.N140I;	4.26520343772272E-6	0.018
18	13734596	T	A	18	13734597	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.T551A:p.I184N;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.T551A:p.I184N;ENSG00000101654:ENST00000592764:exon4:c.T551A:p.I184N;ENSG00000101654:ENST00000262173:exon2:c.T551A:p.I184N;ENSG00000101654:ENST00000543302:exon3:c.T551A:p.I184N;ENSG00000101654:ENST00000589866:exon3:c.T551A:p.I184N;ENSG00000101654:ENST00000588457:exon2:c.T17A:p.I6N;	0.743079865496101	0.634
18	13734596	T	C	18	13734597	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.T551C:p.I184T;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.T551C:p.I184T;ENSG00000101654:ENST00000592764:exon4:c.T551C:p.I184T;ENSG00000101654:ENST00000262173:exon2:c.T551C:p.I184T;ENSG00000101654:ENST00000543302:exon3:c.T551C:p.I184T;ENSG00000101654:ENST00000589866:exon3:c.T551C:p.I184T;ENSG00000101654:ENST00000588457:exon2:c.T17C:p.I6T;	0.743079865496101	0.6
18	13734596	T	G	18	13734597	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.T551G:p.I184S;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.T551G:p.I184S;ENSG00000101654:ENST00000592764:exon4:c.T551G:p.I184S;ENSG00000101654:ENST00000262173:exon2:c.T551G:p.I184S;ENSG00000101654:ENST00000543302:exon3:c.T551G:p.I184S;ENSG00000101654:ENST00000589866:exon3:c.T551G:p.I184S;ENSG00000101654:ENST00000588457:exon2:c.T17G:p.I6S;	0.812849656332088	0.722
18	13734597	T	A	18	13734598	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon4:c.T552A:p.I184I;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.T552A:p.I184I;ENSG00000101654:ENST00000592764:exon4:c.T552A:p.I184I;ENSG00000101654:ENST00000262173:exon2:c.T552A:p.I184I;ENSG00000101654:ENST00000543302:exon3:c.T552A:p.I184I;ENSG00000101654:ENST00000589866:exon3:c.T552A:p.I184I;ENSG00000101654:ENST00000588457:exon2:c.T18A:p.I6I;	0.00710976461256424	0.19
18	13734597	T	C	18	13734598	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon4:c.T552C:p.I184I;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.T552C:p.I184I;ENSG00000101654:ENST00000592764:exon4:c.T552C:p.I184I;ENSG00000101654:ENST00000262173:exon2:c.T552C:p.I184I;ENSG00000101654:ENST00000543302:exon3:c.T552C:p.I184I;ENSG00000101654:ENST00000589866:exon3:c.T552C:p.I184I;ENSG00000101654:ENST00000588457:exon2:c.T18C:p.I6I;	0.106579077230583	0.218
18	13734597	T	G	18	13734598	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.T552G:p.I184M;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.T552G:p.I184M;ENSG00000101654:ENST00000592764:exon4:c.T552G:p.I184M;ENSG00000101654:ENST00000262173:exon2:c.T552G:p.I184M;ENSG00000101654:ENST00000543302:exon3:c.T552G:p.I184M;ENSG00000101654:ENST00000589866:exon3:c.T552G:p.I184M;ENSG00000101654:ENST00000588457:exon2:c.T18G:p.I6M;	0.230441520991589	0.302
18	13734598	G	A	18	13734599	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.G553A:p.G185R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.G553A:p.G185R;ENSG00000101654:ENST00000592764:exon4:c.G553A:p.G185R;ENSG00000101654:ENST00000262173:exon2:c.G553A:p.G185R;ENSG00000101654:ENST00000543302:exon3:c.G553A:p.G185R;ENSG00000101654:ENST00000589866:exon3:c.G553A:p.G185R;ENSG00000101654:ENST00000588457:exon2:c.G19A:p.G7R;	0.999994780140488	1.0
18	13734598	G	C	18	13734599	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon4:c.G553C:p.G185R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon4:c.G553C:p.G185R;ENSG00000101654:ENST00000592764:exon4:c.G553C:p.G185R;ENSG00000101654:ENST00000262173:exon2:c.G553C:p.G185R;ENSG00000101654:ENST00000543302:exon3:c.G553C:p.G185R;ENSG00000101654:ENST00000589866:exon3:c.G553C:p.G185R;ENSG00000101654:ENST00000588457:exon2:c.G19C:p.G7R;	0.999997610789446	0.996
18	13734598	G	T	18	13734599	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon4:c.G553T:p.G185X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000383314:exon4:c.G553T:p.G185X;ENSG00000101654:ENST00000592764:exon4:c.G553T:p.G185X;ENSG00000101654:ENST00000262173:exon2:c.G553T:p.G185X;ENSG00000101654:ENST00000543302:exon3:c.G553T:p.G185X;ENSG00000101654:ENST00000589866:exon3:c.G553T:p.G185X;ENSG00000101654:ENST00000588457:exon2:c.G19T:p.G7X;	0.999992085169995	0.908
18	13734599	G	A	18	13734600	y	y	splicing	RNMT(NM_003799:exon4:c.553+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.553+1G>A;ENST00000383314:exon4:c.553+1G>A;ENST00000588457:exon2:c.19+1G>A;ENST00000592764:exon4:c.553+1G>A;ENST00000589866:exon3:c.553+1G>A;ENST00000262173:exon2:c.553+1G>A)	.	.	0.999990361384395	0.952
18	13734599	G	C	18	13734600	y	y	splicing	RNMT(NM_003799:exon4:c.553+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.553+1G>C;ENST00000383314:exon4:c.553+1G>C;ENST00000588457:exon2:c.19+1G>C;ENST00000592764:exon4:c.553+1G>C;ENST00000589866:exon3:c.553+1G>C;ENST00000262173:exon2:c.553+1G>C)	.	.	0.999990361384395	0.952
18	13734599	G	T	18	13734600	y	y	splicing	RNMT(NM_003799:exon4:c.553+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.553+1G>T;ENST00000383314:exon4:c.553+1G>T;ENST00000588457:exon2:c.19+1G>T;ENST00000592764:exon4:c.553+1G>T;ENST00000589866:exon3:c.553+1G>T;ENST00000262173:exon2:c.553+1G>T)	.	.	0.999990361384395	0.952
18	13734600	T	A	18	13734601	y	y	splicing	RNMT(NM_003799:exon4:c.553+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.553+2T>A;ENST00000383314:exon4:c.553+2T>A;ENST00000588457:exon2:c.19+2T>A;ENST00000592764:exon4:c.553+2T>A;ENST00000589866:exon3:c.553+2T>A;ENST00000262173:exon2:c.553+2T>A)	.	.	0.999988247793601	0.954
18	13734600	T	C	18	13734601	y	y	splicing	RNMT(NM_003799:exon4:c.553+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.553+2T>C;ENST00000383314:exon4:c.553+2T>C;ENST00000588457:exon2:c.19+2T>C;ENST00000592764:exon4:c.553+2T>C;ENST00000589866:exon3:c.553+2T>C;ENST00000262173:exon2:c.553+2T>C)	.	.	0.99991522016916	0.908
18	13734600	T	G	18	13734601	y	y	splicing	RNMT(NM_003799:exon4:c.553+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon3:c.553+2T>G;ENST00000383314:exon4:c.553+2T>G;ENST00000588457:exon2:c.19+2T>G;ENST00000592764:exon4:c.553+2T>G;ENST00000589866:exon3:c.553+2T>G;ENST00000262173:exon2:c.553+2T>G)	.	.	0.999988247793601	0.954
18	13734601	A	C	18	13734602	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999872705146462	0.914
18	13734601	A	G	18	13734602	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99973458133084	0.97
18	13734601	A	T	18	13734602	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999937012033145	0.952
18	13734602	T	A	18	13734603	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.43675464727957E-4	0.034
18	13734602	T	C	18	13734603	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0011242874137651	0.092
18	13734602	T	G	18	13734603	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.11722245078071E-4	0.016
18	13734603	G	A	18	13734604	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999977126544346	1.0
18	13734603	G	C	18	13734604	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999984493604872	0.998
18	13734603	G	T	18	13734604	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999978385504952	0.99
18	13734604	A	C	18	13734605	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.48832306990844E-4	0.088
18	13734604	A	G	18	13734605	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.00941480894723E-4	0.002
18	13734604	A	T	18	13734605	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.58431186759253E-4	0.038
18	13734605	T	A	18	13734606	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00212176194265542	0.012
18	13734605	T	C	18	13734606	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00110035450119068	0.012
18	13734605	T	G	18	13734606	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00123608359374934	0.012
18	13734606	C	A	18	13734607	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.15411735065507E-4	0.102
18	13734606	C	G	18	13734607	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.68894791132753E-5	0.144
18	13734606	C	T	18	13734607	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.57251794583748E-5	0.084
18	13736997	T	A	18	13736998	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00978316532444955	0.204
18	13736997	T	C	18	13736998	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00161968139778705	0.014
18	13736997	T	G	18	13736998	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00359447526585438	0.164
18	13736998	C	A	18	13736999	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.29798065218835E-5	0.008
18	13736998	C	G	18	13736999	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.79227662351373E-5	0.002
18	13736998	C	T	18	13736999	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.19926236064406E-5	0.0
18	13736999	T	A	18	13737000	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00159924120221339	0.172
18	13736999	T	C	18	13737000	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.81563437034495E-4	0.016
18	13736999	T	G	18	13737000	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00282228629367258	0.234
18	13737000	C	A	18	13737001	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.44785694899125E-5	0.006
18	13737000	C	G	18	13737001	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.18981534292106E-5	0.018
18	13737000	C	T	18	13737001	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.86976763321657E-5	0.044
18	13737001	T	A	18	13737002	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0080984206590628	0.106
18	13737001	T	C	18	13737002	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.52656864962469E-4	0.008
18	13737001	T	G	18	13737002	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0012333220743841	0.084
18	13737002	C	A	18	13737003	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00119372411570864	0.038
18	13737002	C	G	18	13737003	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.93024816240063E-4	0.056
18	13737002	C	T	18	13737003	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.00105191809507E-5	0.0
18	13737003	T	A	18	13737004	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00272246132415491	0.086
18	13737003	T	C	18	13737004	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.65570077216092E-5	0.006
18	13737003	T	G	18	13737004	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00203262575569834	0.078
18	13737004	T	A	18	13737005	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00273262598738237	0.154
18	13737004	T	C	18	13737005	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.30113088903838E-4	0.082
18	13737004	T	G	18	13737005	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0182971774280372	0.252
18	13737005	T	A	18	13737006	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.81658167609302E-5	0.0
18	13737005	T	C	18	13737006	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.60608911994462E-5	0.0
18	13737005	T	G	18	13737006	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.36940089062868E-4	0.002
18	13737006	T	A	18	13737007	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0161416115279341	0.344
18	13737006	T	C	18	13737007	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.13647755932125E-4	0.032
18	13737006	T	G	18	13737007	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.814177127575845	0.56
18	13737007	A	C	18	13737008	y	y	splicing	RNMT(NM_003799:exon5:c.554-2A>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.554-2A>C;ENST00000383314:exon5:c.554-2A>C;ENST00000588457:exon3:c.20-2A>C;ENST00000592764:exon5:c.554-2A>C;ENST00000589866:exon4:c.554-2A>C;ENST00000262173:exon3:c.554-2A>C)	.	.	0.999955107838025	0.938
18	13737007	A	G	18	13737008	y	y	splicing	RNMT(NM_003799:exon5:c.554-2A>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.554-2A>G;ENST00000383314:exon5:c.554-2A>G;ENST00000588457:exon3:c.20-2A>G;ENST00000592764:exon5:c.554-2A>G;ENST00000589866:exon4:c.554-2A>G;ENST00000262173:exon3:c.554-2A>G)	.	.	0.999955107838025	0.938
18	13737007	A	T	18	13737008	y	y	splicing	RNMT(NM_003799:exon5:c.554-2A>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.554-2A>T;ENST00000383314:exon5:c.554-2A>T;ENST00000588457:exon3:c.20-2A>T;ENST00000592764:exon5:c.554-2A>T;ENST00000589866:exon4:c.554-2A>T;ENST00000262173:exon3:c.554-2A>T)	.	.	0.999955107838025	0.938
18	13737008	G	A	18	13737009	y	y	splicing	RNMT(NM_003799:exon5:c.554-1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.554-1G>A;ENST00000383314:exon5:c.554-1G>A;ENST00000588457:exon3:c.20-1G>A;ENST00000592764:exon5:c.554-1G>A;ENST00000589866:exon4:c.554-1G>A;ENST00000262173:exon3:c.554-1G>A)	.	.	0.999989263107695	0.934
18	13737008	G	C	18	13737009	y	y	splicing	RNMT(NM_003799:exon5:c.554-1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.554-1G>C;ENST00000383314:exon5:c.554-1G>C;ENST00000588457:exon3:c.20-1G>C;ENST00000592764:exon5:c.554-1G>C;ENST00000589866:exon4:c.554-1G>C;ENST00000262173:exon3:c.554-1G>C)	.	.	0.999989263107695	0.934
18	13737008	G	T	18	13737009	y	y	splicing	RNMT(NM_003799:exon5:c.554-1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.554-1G>T;ENST00000383314:exon5:c.554-1G>T;ENST00000588457:exon3:c.20-1G>T;ENST00000592764:exon5:c.554-1G>T;ENST00000589866:exon4:c.554-1G>T;ENST00000262173:exon3:c.554-1G>T)	.	.	0.999989263107695	0.934
18	13737009	G	A	18	13737010	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.G554A:p.G185E;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.G554A:p.G185E;ENSG00000101654:ENST00000592764:exon5:c.G554A:p.G185E;ENSG00000101654:ENST00000262173:exon3:c.G554A:p.G185E;ENSG00000101654:ENST00000543302:exon4:c.G554A:p.G185E;ENSG00000101654:ENST00000589866:exon4:c.G554A:p.G185E;ENSG00000101654:ENST00000588457:exon3:c.G20A:p.G7E;	0.999023776402669	0.802
18	13737009	G	C	18	13737010	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.G554C:p.G185A;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.G554C:p.G185A;ENSG00000101654:ENST00000592764:exon5:c.G554C:p.G185A;ENSG00000101654:ENST00000262173:exon3:c.G554C:p.G185A;ENSG00000101654:ENST00000543302:exon4:c.G554C:p.G185A;ENSG00000101654:ENST00000589866:exon4:c.G554C:p.G185A;ENSG00000101654:ENST00000588457:exon3:c.G20C:p.G7A;	0.998195206127826	0.94
18	13737009	G	T	18	13737010	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.G554T:p.G185V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.G554T:p.G185V;ENSG00000101654:ENST00000592764:exon5:c.G554T:p.G185V;ENSG00000101654:ENST00000262173:exon3:c.G554T:p.G185V;ENSG00000101654:ENST00000543302:exon4:c.G554T:p.G185V;ENSG00000101654:ENST00000589866:exon4:c.G554T:p.G185V;ENSG00000101654:ENST00000588457:exon3:c.G20T:p.G7V;	0.99978902034445	0.994
18	13737010	A	C	18	13737011	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon5:c.A555C:p.G185G;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.A555C:p.G185G;ENSG00000101654:ENST00000592764:exon5:c.A555C:p.G185G;ENSG00000101654:ENST00000262173:exon3:c.A555C:p.G185G;ENSG00000101654:ENST00000543302:exon4:c.A555C:p.G185G;ENSG00000101654:ENST00000589866:exon4:c.A555C:p.G185G;ENSG00000101654:ENST00000588457:exon3:c.A21C:p.G7G;	6.14077538912224E-4	0.058
18	13737010	A	G	18	13737011	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon5:c.A555G:p.G185G;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.A555G:p.G185G;ENSG00000101654:ENST00000592764:exon5:c.A555G:p.G185G;ENSG00000101654:ENST00000262173:exon3:c.A555G:p.G185G;ENSG00000101654:ENST00000543302:exon4:c.A555G:p.G185G;ENSG00000101654:ENST00000589866:exon4:c.A555G:p.G185G;ENSG00000101654:ENST00000588457:exon3:c.A21G:p.G7G;	1.51436242753971E-4	0.086
18	13737010	A	T	18	13737011	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon5:c.A555T:p.G185G;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.A555T:p.G185G;ENSG00000101654:ENST00000592764:exon5:c.A555T:p.G185G;ENSG00000101654:ENST00000262173:exon3:c.A555T:p.G185G;ENSG00000101654:ENST00000543302:exon4:c.A555T:p.G185G;ENSG00000101654:ENST00000589866:exon4:c.A555T:p.G185G;ENSG00000101654:ENST00000588457:exon3:c.A21T:p.G7G;	6.1176274964037E-5	0.004
18	13737132	C	A	18	13737133	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.C677A:p.T226N;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.C677A:p.T226N;ENSG00000101654:ENST00000592764:exon5:c.C677A:p.T226N;ENSG00000101654:ENST00000262173:exon3:c.C677A:p.T226N;ENSG00000101654:ENST00000543302:exon4:c.C677A:p.T226N;ENSG00000101654:ENST00000589866:exon4:c.C677A:p.T226N;ENSG00000101654:ENST00000588457:exon3:c.C143A:p.T48N;	0.90043972831235	0.812
18	13737132	C	G	18	13737133	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.C677G:p.T226S;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.C677G:p.T226S;ENSG00000101654:ENST00000592764:exon5:c.C677G:p.T226S;ENSG00000101654:ENST00000262173:exon3:c.C677G:p.T226S;ENSG00000101654:ENST00000543302:exon4:c.C677G:p.T226S;ENSG00000101654:ENST00000589866:exon4:c.C677G:p.T226S;ENSG00000101654:ENST00000588457:exon3:c.C143G:p.T48S;	0.844311766053173	0.65
18	13737132	C	T	18	13737133	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.C677T:p.T226I;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.C677T:p.T226I;ENSG00000101654:ENST00000592764:exon5:c.C677T:p.T226I;ENSG00000101654:ENST00000262173:exon3:c.C677T:p.T226I;ENSG00000101654:ENST00000543302:exon4:c.C677T:p.T226I;ENSG00000101654:ENST00000589866:exon4:c.C677T:p.T226I;ENSG00000101654:ENST00000588457:exon3:c.C143T:p.T48I;	0.996529335993743	0.738
18	13737133	T	A	18	13737134	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon5:c.T678A:p.T226T;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.T678A:p.T226T;ENSG00000101654:ENST00000592764:exon5:c.T678A:p.T226T;ENSG00000101654:ENST00000262173:exon3:c.T678A:p.T226T;ENSG00000101654:ENST00000543302:exon4:c.T678A:p.T226T;ENSG00000101654:ENST00000589866:exon4:c.T678A:p.T226T;ENSG00000101654:ENST00000588457:exon3:c.T144A:p.T48T;	3.07806547252912E-5	0.076
18	13737133	T	C	18	13737134	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon5:c.T678C:p.T226T;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.T678C:p.T226T;ENSG00000101654:ENST00000592764:exon5:c.T678C:p.T226T;ENSG00000101654:ENST00000262173:exon3:c.T678C:p.T226T;ENSG00000101654:ENST00000543302:exon4:c.T678C:p.T226T;ENSG00000101654:ENST00000589866:exon4:c.T678C:p.T226T;ENSG00000101654:ENST00000588457:exon3:c.T144C:p.T48T;	1.1613143211449E-4	0.014
18	13737133	T	G	18	13737134	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon5:c.T678G:p.T226T;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.T678G:p.T226T;ENSG00000101654:ENST00000592764:exon5:c.T678G:p.T226T;ENSG00000101654:ENST00000262173:exon3:c.T678G:p.T226T;ENSG00000101654:ENST00000543302:exon4:c.T678G:p.T226T;ENSG00000101654:ENST00000589866:exon4:c.T678G:p.T226T;ENSG00000101654:ENST00000588457:exon3:c.T144G:p.T48T;	8.94317529550955E-5	0.012
18	13737134	G	A	18	13737135	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.G679A:p.D227N;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.G679A:p.D227N;ENSG00000101654:ENST00000592764:exon5:c.G679A:p.D227N;ENSG00000101654:ENST00000262173:exon3:c.G679A:p.D227N;ENSG00000101654:ENST00000543302:exon4:c.G679A:p.D227N;ENSG00000101654:ENST00000589866:exon4:c.G679A:p.D227N;ENSG00000101654:ENST00000588457:exon3:c.G145A:p.D49N;	0.999983401016498	1.0
18	13737134	G	C	18	13737135	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.G679C:p.D227H;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.G679C:p.D227H;ENSG00000101654:ENST00000592764:exon5:c.G679C:p.D227H;ENSG00000101654:ENST00000262173:exon3:c.G679C:p.D227H;ENSG00000101654:ENST00000543302:exon4:c.G679C:p.D227H;ENSG00000101654:ENST00000589866:exon4:c.G679C:p.D227H;ENSG00000101654:ENST00000588457:exon3:c.G145C:p.D49H;	0.999996849704514	0.998
18	13737134	G	T	18	13737135	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon5:c.G679T:p.D227Y;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon5:c.G679T:p.D227Y;ENSG00000101654:ENST00000592764:exon5:c.G679T:p.D227Y;ENSG00000101654:ENST00000262173:exon3:c.G679T:p.D227Y;ENSG00000101654:ENST00000543302:exon4:c.G679T:p.D227Y;ENSG00000101654:ENST00000589866:exon4:c.G679T:p.D227Y;ENSG00000101654:ENST00000588457:exon3:c.G145T:p.D49Y;	0.999987571372992	1.0
18	13737135	G	A	18	13737136	y	y	splicing	RNMT(NM_003799:exon5:c.679+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.679+1G>A;ENST00000383314:exon5:c.679+1G>A;ENST00000588457:exon3:c.145+1G>A;ENST00000592764:exon5:c.679+1G>A;ENST00000589866:exon4:c.679+1G>A;ENST00000262173:exon3:c.679+1G>A)	.	.	0.999986675681007	0.936
18	13737135	G	C	18	13737136	y	y	splicing	RNMT(NM_003799:exon5:c.679+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.679+1G>C;ENST00000383314:exon5:c.679+1G>C;ENST00000588457:exon3:c.145+1G>C;ENST00000592764:exon5:c.679+1G>C;ENST00000589866:exon4:c.679+1G>C;ENST00000262173:exon3:c.679+1G>C)	.	.	0.999986675681007	0.936
18	13737135	G	T	18	13737136	y	y	splicing	RNMT(NM_003799:exon5:c.679+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.679+1G>T;ENST00000383314:exon5:c.679+1G>T;ENST00000588457:exon3:c.145+1G>T;ENST00000592764:exon5:c.679+1G>T;ENST00000589866:exon4:c.679+1G>T;ENST00000262173:exon3:c.679+1G>T)	.	.	0.999986675681007	0.936
18	13737136	T	A	18	13737137	y	y	splicing	RNMT(NM_003799:exon5:c.679+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.679+2T>A;ENST00000383314:exon5:c.679+2T>A;ENST00000588457:exon3:c.145+2T>A;ENST00000592764:exon5:c.679+2T>A;ENST00000589866:exon4:c.679+2T>A;ENST00000262173:exon3:c.679+2T>A)	.	.	0.999989917668626	0.928
18	13737136	T	C	18	13737137	y	y	splicing	RNMT(NM_003799:exon5:c.679+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.679+2T>C;ENST00000383314:exon5:c.679+2T>C;ENST00000588457:exon3:c.145+2T>C;ENST00000592764:exon5:c.679+2T>C;ENST00000589866:exon4:c.679+2T>C;ENST00000262173:exon3:c.679+2T>C)	.	.	0.999941273443095	0.89
18	13737136	T	G	18	13737137	y	y	splicing	RNMT(NM_003799:exon5:c.679+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon4:c.679+2T>G;ENST00000383314:exon5:c.679+2T>G;ENST00000588457:exon3:c.145+2T>G;ENST00000592764:exon5:c.679+2T>G;ENST00000589866:exon4:c.679+2T>G;ENST00000262173:exon3:c.679+2T>G)	.	.	0.999989917668626	0.928
18	13737137	A	C	18	13737138	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999007418612942	0.96
18	13737137	A	G	18	13737138	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.971141039535003	0.564
18	13737137	A	T	18	13737138	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999614157714892	0.966
18	13737138	A	C	18	13737139	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.993474445169062	0.716
18	13737138	A	G	18	13737139	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99235370425701	0.814
18	13737138	A	T	18	13737139	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.997384107339452	0.842
18	13737139	G	A	18	13737140	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999223492362082	0.93
18	13737139	G	C	18	13737140	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.997561279769338	0.948
18	13737139	G	T	18	13737140	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.996732569813541	0.854
18	13737140	A	C	18	13737141	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00178257327654253	0.058
18	13737140	A	G	18	13737141	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.80049484063444E-5	0.0
18	13737140	A	T	18	13737141	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.11173482823921E-4	0.008
18	13737141	T	A	18	13737142	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.9110097116519E-4	0.002
18	13737141	T	C	18	13737142	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.10644846678701E-4	0.002
18	13737141	T	G	18	13737142	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.05176584329014E-4	0.006
18	13737142	A	C	18	13737143	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00187797058931196	0.024
18	13737142	A	G	18	13737143	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.53815331627323E-4	0.014
18	13737142	A	T	18	13737143	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.53815331627323E-4	0.052
18	13740154	C	A	18	13740155	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00101095709782986	0.024
18	13740154	C	G	18	13740155	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.8400161653971E-4	0.016
18	13740154	C	T	18	13740155	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.55447016955389E-5	0.0
18	13740155	C	A	18	13740156	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.8908884198378E-4	0.044
18	13740155	C	G	18	13740156	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.18246746287581E-4	0.0
18	13740155	C	T	18	13740156	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.84652278608077E-5	0.0
18	13740156	A	C	18	13740157	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.55488282451153E-5	0.0
18	13740156	A	G	18	13740157	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.24651234294026E-5	0.0
18	13740156	A	T	18	13740157	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.30718947637959E-5	0.0
18	13740157	T	A	18	13740158	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0166494409186751	0.168
18	13740157	T	C	18	13740158	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00165473127606374	0.074
18	13740157	T	G	18	13740158	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999813457586945	0.992
18	13740158	C	A	18	13740159	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00196816408309249	0.056
18	13740158	C	G	18	13740159	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.17162857238761E-4	0.078
18	13740158	C	T	18	13740159	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.13694544340364E-5	0.0
18	13740159	C	A	18	13740160	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.36978599698886E-5	0.01
18	13740159	C	G	18	13740160	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.53922648638086E-5	0.02
18	13740159	C	T	18	13740160	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.79750912243622E-5	0.0
18	13740160	T	A	18	13740161	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0031858793912091	0.068
18	13740160	T	C	18	13740161	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.33396662303804E-5	0.0
18	13740160	T	G	18	13740161	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0122411800147358	0.18
18	13740161	T	A	18	13740162	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0231493388942915	0.214
18	13740161	T	C	18	13740162	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.88655374194992E-4	0.032
18	13740161	T	G	18	13740162	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0106749109867738	0.188
18	13740162	C	A	18	13740163	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.88594680916414E-5	0.004
18	13740162	C	G	18	13740163	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.34804234922182E-5	0.0
18	13740162	C	T	18	13740163	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.88594680916414E-5	0.0
18	13740163	C	A	18	13740164	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.912635394829603	0.718
18	13740163	C	G	18	13740164	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999471107247419	0.976
18	13740163	C	T	18	13740164	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0081395218301353	0.018
18	13740164	A	C	18	13740165	y	y	splicing	RNMT(NM_003799:exon6:c.680-2A>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.680-2A>C;ENST00000383314:exon6:c.680-2A>C;ENST00000588457:exon4:c.146-2A>C;ENST00000592764:exon6:c.680-2A>C;ENST00000589866:exon5:c.680-2A>C;ENST00000262173:exon4:c.680-2A>C)	.	.	0.999988247793601	0.928
18	13740164	A	G	18	13740165	y	y	splicing	RNMT(NM_003799:exon6:c.680-2A>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.680-2A>G;ENST00000383314:exon6:c.680-2A>G;ENST00000588457:exon4:c.146-2A>G;ENST00000592764:exon6:c.680-2A>G;ENST00000589866:exon5:c.680-2A>G;ENST00000262173:exon4:c.680-2A>G)	.	.	0.999988247793601	0.928
18	13740164	A	T	18	13740165	y	y	splicing	RNMT(NM_003799:exon6:c.680-2A>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.680-2A>T;ENST00000383314:exon6:c.680-2A>T;ENST00000588457:exon4:c.146-2A>T;ENST00000592764:exon6:c.680-2A>T;ENST00000589866:exon5:c.680-2A>T;ENST00000262173:exon4:c.680-2A>T)	.	.	0.999988247793601	0.928
18	13740165	G	A	18	13740166	y	y	splicing	RNMT(NM_003799:exon6:c.680-1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.680-1G>A;ENST00000383314:exon6:c.680-1G>A;ENST00000588457:exon4:c.146-1G>A;ENST00000592764:exon6:c.680-1G>A;ENST00000589866:exon5:c.680-1G>A;ENST00000262173:exon4:c.680-1G>A)	.	.	0.999990361384395	0.938
18	13740165	G	C	18	13740166	y	y	splicing	RNMT(NM_003799:exon6:c.680-1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.680-1G>C;ENST00000383314:exon6:c.680-1G>C;ENST00000588457:exon4:c.146-1G>C;ENST00000592764:exon6:c.680-1G>C;ENST00000589866:exon5:c.680-1G>C;ENST00000262173:exon4:c.680-1G>C)	.	.	0.999990361384395	0.938
18	13740165	G	T	18	13740166	y	y	splicing	RNMT(NM_003799:exon6:c.680-1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.680-1G>T;ENST00000383314:exon6:c.680-1G>T;ENST00000588457:exon4:c.146-1G>T;ENST00000592764:exon6:c.680-1G>T;ENST00000589866:exon5:c.680-1G>T;ENST00000262173:exon4:c.680-1G>T)	.	.	0.999990361384395	0.938
18	13740166	A	C	18	13740167	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.A680C:p.D227A;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon6:c.A680C:p.D227A;ENSG00000101654:ENST00000592764:exon6:c.A680C:p.D227A;ENSG00000101654:ENST00000262173:exon4:c.A680C:p.D227A;ENSG00000101654:ENST00000543302:exon5:c.A680C:p.D227A;ENSG00000101654:ENST00000589866:exon5:c.A680C:p.D227A;ENSG00000101654:ENST00000588457:exon4:c.A146C:p.D49A;	0.736440137845054	0.65
18	13740166	A	G	18	13740167	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.A680G:p.D227G;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon6:c.A680G:p.D227G;ENSG00000101654:ENST00000592764:exon6:c.A680G:p.D227G;ENSG00000101654:ENST00000262173:exon4:c.A680G:p.D227G;ENSG00000101654:ENST00000543302:exon5:c.A680G:p.D227G;ENSG00000101654:ENST00000589866:exon5:c.A680G:p.D227G;ENSG00000101654:ENST00000588457:exon4:c.A146G:p.D49G;	0.635917511440223	0.722
18	13740166	A	T	18	13740167	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.A680T:p.D227V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon6:c.A680T:p.D227V;ENSG00000101654:ENST00000592764:exon6:c.A680T:p.D227V;ENSG00000101654:ENST00000262173:exon4:c.A680T:p.D227V;ENSG00000101654:ENST00000543302:exon5:c.A680T:p.D227V;ENSG00000101654:ENST00000589866:exon5:c.A680T:p.D227V;ENSG00000101654:ENST00000588457:exon4:c.A146T:p.D49V;	0.734083092538662	0.584
18	13740167	T	A	18	13740168	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.T681A:p.D227E;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon6:c.T681A:p.D227E;ENSG00000101654:ENST00000592764:exon6:c.T681A:p.D227E;ENSG00000101654:ENST00000262173:exon4:c.T681A:p.D227E;ENSG00000101654:ENST00000543302:exon5:c.T681A:p.D227E;ENSG00000101654:ENST00000589866:exon5:c.T681A:p.D227E;ENSG00000101654:ENST00000588457:exon4:c.T147A:p.D49E;	0.645242241358628	0.562
18	13740167	T	C	18	13740168	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon6:c.T681C:p.D227D;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000383314:exon6:c.T681C:p.D227D;ENSG00000101654:ENST00000592764:exon6:c.T681C:p.D227D;ENSG00000101654:ENST00000262173:exon4:c.T681C:p.D227D;ENSG00000101654:ENST00000543302:exon5:c.T681C:p.D227D;ENSG00000101654:ENST00000589866:exon5:c.T681C:p.D227D;ENSG00000101654:ENST00000588457:exon4:c.T147C:p.D49D;	0.196089055885841	0.25
18	13740167	T	G	18	13740168	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.T681G:p.D227E;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000383314:exon6:c.T681G:p.D227E;ENSG00000101654:ENST00000592764:exon6:c.T681G:p.D227E;ENSG00000101654:ENST00000262173:exon4:c.T681G:p.D227E;ENSG00000101654:ENST00000543302:exon5:c.T681G:p.D227E;ENSG00000101654:ENST00000589866:exon5:c.T681G:p.D227E;ENSG00000101654:ENST00000588457:exon4:c.T147G:p.D49E;	0.581785405445745	0.59
18	13740276	A	C	18	13740277	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.A790C:p.K264Q;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon4:c.A64C:p.K22Q;ENSG00000101654:ENST00000383314:exon6:c.A790C:p.K264Q;ENSG00000101654:ENST00000592764:exon6:c.A790C:p.K264Q;ENSG00000101654:ENST00000262173:exon4:c.A790C:p.K264Q;ENSG00000101654:ENST00000543302:exon5:c.A790C:p.K264Q;ENSG00000101654:ENST00000589866:exon5:c.A790C:p.K264Q;ENSG00000101654:ENST00000588457:exon4:c.A256C:p.K86Q;	0.821653520564379	0.788
18	13740276	A	G	18	13740277	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.A790G:p.K264E;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon4:c.A64G:p.K22E;ENSG00000101654:ENST00000383314:exon6:c.A790G:p.K264E;ENSG00000101654:ENST00000592764:exon6:c.A790G:p.K264E;ENSG00000101654:ENST00000262173:exon4:c.A790G:p.K264E;ENSG00000101654:ENST00000543302:exon5:c.A790G:p.K264E;ENSG00000101654:ENST00000589866:exon5:c.A790G:p.K264E;ENSG00000101654:ENST00000588457:exon4:c.A256G:p.K86E;	0.693844118911998	0.532
18	13740276	A	T	18	13740277	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon6:c.A790T:p.K264X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000535051:exon4:c.A64T:p.K22X;ENSG00000101654:ENST00000383314:exon6:c.A790T:p.K264X;ENSG00000101654:ENST00000592764:exon6:c.A790T:p.K264X;ENSG00000101654:ENST00000262173:exon4:c.A790T:p.K264X;ENSG00000101654:ENST00000543302:exon5:c.A790T:p.K264X;ENSG00000101654:ENST00000589866:exon5:c.A790T:p.K264X;ENSG00000101654:ENST00000588457:exon4:c.A256T:p.K86X;	0.999348829971803	0.902
18	13740277	A	C	18	13740278	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.A791C:p.K264T;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon4:c.A65C:p.K22T;ENSG00000101654:ENST00000383314:exon6:c.A791C:p.K264T;ENSG00000101654:ENST00000592764:exon6:c.A791C:p.K264T;ENSG00000101654:ENST00000262173:exon4:c.A791C:p.K264T;ENSG00000101654:ENST00000543302:exon5:c.A791C:p.K264T;ENSG00000101654:ENST00000589866:exon5:c.A791C:p.K264T;ENSG00000101654:ENST00000588457:exon4:c.A257C:p.K86T;	0.999847029942359	1.0
18	13740277	A	G	18	13740278	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.A791G:p.K264R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon4:c.A65G:p.K22R;ENSG00000101654:ENST00000383314:exon6:c.A791G:p.K264R;ENSG00000101654:ENST00000592764:exon6:c.A791G:p.K264R;ENSG00000101654:ENST00000262173:exon4:c.A791G:p.K264R;ENSG00000101654:ENST00000543302:exon5:c.A791G:p.K264R;ENSG00000101654:ENST00000589866:exon5:c.A791G:p.K264R;ENSG00000101654:ENST00000588457:exon4:c.A257G:p.K86R;	0.999944813052446	0.986
18	13740277	A	T	18	13740278	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.A791T:p.K264M;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon4:c.A65T:p.K22M;ENSG00000101654:ENST00000383314:exon6:c.A791T:p.K264M;ENSG00000101654:ENST00000592764:exon6:c.A791T:p.K264M;ENSG00000101654:ENST00000262173:exon4:c.A791T:p.K264M;ENSG00000101654:ENST00000543302:exon5:c.A791T:p.K264M;ENSG00000101654:ENST00000589866:exon5:c.A791T:p.K264M;ENSG00000101654:ENST00000588457:exon4:c.A257T:p.K86M;	0.9998959491526	0.986
18	13740278	G	A	18	13740279	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon6:c.G792A:p.K264K;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon4:c.G66A:p.K22K;ENSG00000101654:ENST00000383314:exon6:c.G792A:p.K264K;ENSG00000101654:ENST00000592764:exon6:c.G792A:p.K264K;ENSG00000101654:ENST00000262173:exon4:c.G792A:p.K264K;ENSG00000101654:ENST00000543302:exon5:c.G792A:p.K264K;ENSG00000101654:ENST00000589866:exon5:c.G792A:p.K264K;ENSG00000101654:ENST00000588457:exon4:c.G258A:p.K86K;	0.999974255756136	0.996
18	13740278	G	C	18	13740279	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.G792C:p.K264N;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon4:c.G66C:p.K22N;ENSG00000101654:ENST00000383314:exon6:c.G792C:p.K264N;ENSG00000101654:ENST00000592764:exon6:c.G792C:p.K264N;ENSG00000101654:ENST00000262173:exon4:c.G792C:p.K264N;ENSG00000101654:ENST00000543302:exon5:c.G792C:p.K264N;ENSG00000101654:ENST00000589866:exon5:c.G792C:p.K264N;ENSG00000101654:ENST00000588457:exon4:c.G258C:p.K86N;	0.999997424211608	1.0
18	13740278	G	T	18	13740279	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon6:c.G792T:p.K264N;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon4:c.G66T:p.K22N;ENSG00000101654:ENST00000383314:exon6:c.G792T:p.K264N;ENSG00000101654:ENST00000592764:exon6:c.G792T:p.K264N;ENSG00000101654:ENST00000262173:exon4:c.G792T:p.K264N;ENSG00000101654:ENST00000543302:exon5:c.G792T:p.K264N;ENSG00000101654:ENST00000589866:exon5:c.G792T:p.K264N;ENSG00000101654:ENST00000588457:exon4:c.G258T:p.K86N;	0.999991945276243	0.998
18	13740279	G	A	18	13740280	y	y	splicing	RNMT(NM_003799:exon6:c.792+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.792+1G>A;ENST00000383314:exon6:c.792+1G>A;ENST00000535051:exon4:c.66+1G>A;ENST00000588457:exon4:c.258+1G>A;ENST00000592764:exon6:c.792+1G>A;ENST00000589866:exon5:c.792+1G>A;ENST00000262173:exon4:c.792+1G>A)	.	.	0.999985532734767	0.936
18	13740279	G	C	18	13740280	y	y	splicing	RNMT(NM_003799:exon6:c.792+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.792+1G>C;ENST00000383314:exon6:c.792+1G>C;ENST00000535051:exon4:c.66+1G>C;ENST00000588457:exon4:c.258+1G>C;ENST00000592764:exon6:c.792+1G>C;ENST00000589866:exon5:c.792+1G>C;ENST00000262173:exon4:c.792+1G>C)	.	.	0.999985532734767	0.936
18	13740279	G	T	18	13740280	y	y	splicing	RNMT(NM_003799:exon6:c.792+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.792+1G>T;ENST00000383314:exon6:c.792+1G>T;ENST00000535051:exon4:c.66+1G>T;ENST00000588457:exon4:c.258+1G>T;ENST00000592764:exon6:c.792+1G>T;ENST00000589866:exon5:c.792+1G>T;ENST00000262173:exon4:c.792+1G>T)	.	.	0.999985532734767	0.936
18	13740280	T	A	18	13740281	y	y	splicing	RNMT(NM_003799:exon6:c.792+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.792+2T>A;ENST00000383314:exon6:c.792+2T>A;ENST00000535051:exon4:c.66+2T>A;ENST00000588457:exon4:c.258+2T>A;ENST00000592764:exon6:c.792+2T>A;ENST00000589866:exon5:c.792+2T>A;ENST00000262173:exon4:c.792+2T>A)	.	.	0.999988247793601	0.928
18	13740280	T	C	18	13740281	y	y	splicing	RNMT(NM_003799:exon6:c.792+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.792+2T>C;ENST00000383314:exon6:c.792+2T>C;ENST00000535051:exon4:c.66+2T>C;ENST00000588457:exon4:c.258+2T>C;ENST00000592764:exon6:c.792+2T>C;ENST00000589866:exon5:c.792+2T>C;ENST00000262173:exon4:c.792+2T>C)	.	.	0.992577803696025	0.654
18	13740280	T	G	18	13740281	y	y	splicing	RNMT(NM_003799:exon6:c.792+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon5:c.792+2T>G;ENST00000383314:exon6:c.792+2T>G;ENST00000535051:exon4:c.66+2T>G;ENST00000588457:exon4:c.258+2T>G;ENST00000592764:exon6:c.792+2T>G;ENST00000589866:exon5:c.792+2T>G;ENST00000262173:exon4:c.792+2T>G)	.	.	0.999988247793601	0.928
18	13740281	A	C	18	13740282	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99991944406111	0.908
18	13740281	A	G	18	13740282	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.997921381535438	0.956
18	13740281	A	T	18	13740282	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999932124807732	0.89
18	13740282	C	A	18	13740283	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.60475153589366E-4	0.152
18	13740282	C	G	18	13740283	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.77419801370664E-4	0.13
18	13740282	C	T	18	13740283	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.84285308177161E-4	0.104
18	13740283	A	C	18	13740284	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.17873893020105E-4	0.044
18	13740283	A	G	18	13740284	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.74484420785869E-4	0.026
18	13740283	A	T	18	13740284	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.13404069727706E-5	0.034
18	13740284	G	A	18	13740285	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.01195513905761E-4	0.046
18	13740284	G	C	18	13740285	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00121324530721529	0.022
18	13740284	G	T	18	13740285	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.80212345288604E-4	0.012
18	13740285	T	A	18	13740286	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.8119921074705E-4	0.006
18	13740285	T	C	18	13740286	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.55112648928336E-4	0.004
18	13740285	T	G	18	13740286	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.55112648928336E-4	0.004
18	13740286	T	A	18	13740287	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.05446358336687E-4	0.002
18	13740286	T	C	18	13740287	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.54612375046522E-4	0.02
18	13740286	T	G	18	13740287	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.76614975441448E-4	0.006
18	13741497	A	C	18	13741498	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.86378758069668E-5	0.0
18	13741497	A	G	18	13741498	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.36238360488387E-4	0.004
18	13741497	A	T	18	13741498	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.92349696890949E-5	0.032
18	13741498	A	C	18	13741499	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.20916457260096E-5	0.0
18	13741498	A	G	18	13741499	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.847684138988787	0.902
18	13741498	A	T	18	13741499	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.74199698323117E-5	0.068
18	13741499	T	A	18	13741500	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.303827254446914	0.438
18	13741499	T	C	18	13741500	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00402161373051732	0.048
18	13741499	T	G	18	13741500	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999859353092497	0.994
18	13741500	T	A	18	13741501	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.449681345874632	0.494
18	13741500	T	C	18	13741501	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.02841072364696E-4	0.036
18	13741500	T	G	18	13741501	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.148002331125376	0.468
18	13741501	T	A	18	13741502	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.996862972786766	0.95
18	13741501	T	C	18	13741502	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.18397415974753E-5	0.012
18	13741501	T	G	18	13741502	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.011571380009524	0.132
18	13741502	G	A	18	13741503	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00121499425428697	0.104
18	13741502	G	C	18	13741503	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.50099683299108E-4	0.0
18	13741502	G	T	18	13741503	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.97990151498397E-4	0.014
18	13741503	T	A	18	13741504	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.077718786180788	0.47
18	13741503	T	C	18	13741504	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.3591783454875E-4	0.016
18	13741503	T	G	18	13741504	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.153892938754606	0.522
18	13741504	T	A	18	13741505	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.736479850817054	0.482
18	13741504	T	C	18	13741505	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.218936394853776	0.24
18	13741504	T	G	18	13741505	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.877397803725251	0.58
18	13741505	T	A	18	13741506	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.39438698857402E-4	0.0
18	13741505	T	C	18	13741506	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.64252738374127E-5	0.002
18	13741505	T	G	18	13741506	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.23984880837597E-5	0.004
18	13741506	C	A	18	13741507	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.326156391360089	0.506
18	13741506	C	G	18	13741507	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.997476192616868	0.87
18	13741506	C	T	18	13741507	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.15668007291583E-4	0.05
18	13741507	A	C	18	13741508	y	y	splicing	RNMT(NM_003799:exon7:c.793-2A>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.793-2A>C;ENST00000383314:exon7:c.793-2A>C;ENST00000535051:exon5:c.67-2A>C;ENST00000588457:exon5:c.259-2A>C;ENST00000592764:exon7:c.793-2A>C;ENST00000589866:exon6:c.793-2A>C;ENST00000262173:exon5:c.793-2A>C)	.	.	0.999988247793601	0.944
18	13741507	A	G	18	13741508	y	y	splicing	RNMT(NM_003799:exon7:c.793-2A>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.793-2A>G;ENST00000383314:exon7:c.793-2A>G;ENST00000535051:exon5:c.67-2A>G;ENST00000588457:exon5:c.259-2A>G;ENST00000592764:exon7:c.793-2A>G;ENST00000589866:exon6:c.793-2A>G;ENST00000262173:exon5:c.793-2A>G)	.	.	0.999988247793601	0.944
18	13741507	A	T	18	13741508	y	y	splicing	RNMT(NM_003799:exon7:c.793-2A>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.793-2A>T;ENST00000383314:exon7:c.793-2A>T;ENST00000535051:exon5:c.67-2A>T;ENST00000588457:exon5:c.259-2A>T;ENST00000592764:exon7:c.793-2A>T;ENST00000589866:exon6:c.793-2A>T;ENST00000262173:exon5:c.793-2A>T)	.	.	0.999988247793601	0.944
18	13741508	G	A	18	13741509	y	y	splicing	RNMT(NM_003799:exon7:c.793-1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.793-1G>A;ENST00000383314:exon7:c.793-1G>A;ENST00000535051:exon5:c.67-1G>A;ENST00000588457:exon5:c.259-1G>A;ENST00000592764:exon7:c.793-1G>A;ENST00000589866:exon6:c.793-1G>A;ENST00000262173:exon5:c.793-1G>A)	.	.	0.999986675681007	0.944
18	13741508	G	C	18	13741509	y	y	splicing	RNMT(NM_003799:exon7:c.793-1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.793-1G>C;ENST00000383314:exon7:c.793-1G>C;ENST00000535051:exon5:c.67-1G>C;ENST00000588457:exon5:c.259-1G>C;ENST00000592764:exon7:c.793-1G>C;ENST00000589866:exon6:c.793-1G>C;ENST00000262173:exon5:c.793-1G>C)	.	.	0.999986675681007	0.942
18	13741508	G	T	18	13741509	y	y	splicing	RNMT(NM_003799:exon7:c.793-1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.793-1G>T;ENST00000383314:exon7:c.793-1G>T;ENST00000535051:exon5:c.67-1G>T;ENST00000588457:exon5:c.259-1G>T;ENST00000592764:exon7:c.793-1G>T;ENST00000589866:exon6:c.793-1G>T;ENST00000262173:exon5:c.793-1G>T)	.	.	0.999986675681007	0.944
18	13741509	G	A	18	13741510	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.G793A:p.E265K;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.G67A:p.E23K;ENSG00000101654:ENST00000383314:exon7:c.G793A:p.E265K;ENSG00000101654:ENST00000592764:exon7:c.G793A:p.E265K;ENSG00000101654:ENST00000262173:exon5:c.G793A:p.E265K;ENSG00000101654:ENST00000543302:exon6:c.G793A:p.E265K;ENSG00000101654:ENST00000589866:exon6:c.G793A:p.E265K;ENSG00000101654:ENST00000588457:exon5:c.G259A:p.E87K;	0.172507915701734	0.386
18	13741509	G	C	18	13741510	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.G793C:p.E265Q;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.G67C:p.E23Q;ENSG00000101654:ENST00000383314:exon7:c.G793C:p.E265Q;ENSG00000101654:ENST00000592764:exon7:c.G793C:p.E265Q;ENSG00000101654:ENST00000262173:exon5:c.G793C:p.E265Q;ENSG00000101654:ENST00000543302:exon6:c.G793C:p.E265Q;ENSG00000101654:ENST00000589866:exon6:c.G793C:p.E265Q;ENSG00000101654:ENST00000588457:exon5:c.G259C:p.E87Q;	0.970144948049976	0.776
18	13741509	G	T	18	13741510	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon7:c.G793T:p.E265X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000535051:exon5:c.G67T:p.E23X;ENSG00000101654:ENST00000383314:exon7:c.G793T:p.E265X;ENSG00000101654:ENST00000592764:exon7:c.G793T:p.E265X;ENSG00000101654:ENST00000262173:exon5:c.G793T:p.E265X;ENSG00000101654:ENST00000543302:exon6:c.G793T:p.E265X;ENSG00000101654:ENST00000589866:exon6:c.G793T:p.E265X;ENSG00000101654:ENST00000588457:exon5:c.G259T:p.E87X;	0.999298400710191	0.876
18	13741510	A	C	18	13741511	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.A794C:p.E265A;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.A68C:p.E23A;ENSG00000101654:ENST00000383314:exon7:c.A794C:p.E265A;ENSG00000101654:ENST00000592764:exon7:c.A794C:p.E265A;ENSG00000101654:ENST00000262173:exon5:c.A794C:p.E265A;ENSG00000101654:ENST00000543302:exon6:c.A794C:p.E265A;ENSG00000101654:ENST00000589866:exon6:c.A794C:p.E265A;ENSG00000101654:ENST00000588457:exon5:c.A260C:p.E87A;	0.817414549044104	0.726
18	13741510	A	G	18	13741511	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.A794G:p.E265G;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.A68G:p.E23G;ENSG00000101654:ENST00000383314:exon7:c.A794G:p.E265G;ENSG00000101654:ENST00000592764:exon7:c.A794G:p.E265G;ENSG00000101654:ENST00000262173:exon5:c.A794G:p.E265G;ENSG00000101654:ENST00000543302:exon6:c.A794G:p.E265G;ENSG00000101654:ENST00000589866:exon6:c.A794G:p.E265G;ENSG00000101654:ENST00000588457:exon5:c.A260G:p.E87G;	0.868614196042037	0.69
18	13741510	A	T	18	13741511	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.A794T:p.E265V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.A68T:p.E23V;ENSG00000101654:ENST00000383314:exon7:c.A794T:p.E265V;ENSG00000101654:ENST00000592764:exon7:c.A794T:p.E265V;ENSG00000101654:ENST00000262173:exon5:c.A794T:p.E265V;ENSG00000101654:ENST00000543302:exon6:c.A794T:p.E265V;ENSG00000101654:ENST00000589866:exon6:c.A794T:p.E265V;ENSG00000101654:ENST00000588457:exon5:c.A260T:p.E87V;	0.753514042579344	0.584
18	13741688	G	A	18	13741689	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon7:c.G972A:p.L324L;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.G246A:p.L82L;ENSG00000101654:ENST00000383314:exon7:c.G972A:p.L324L;ENSG00000101654:ENST00000592764:exon7:c.G972A:p.L324L;ENSG00000101654:ENST00000262173:exon5:c.G972A:p.L324L;ENSG00000101654:ENST00000543302:exon6:c.G972A:p.L324L;ENSG00000101654:ENST00000589866:exon6:c.G972A:p.L324L;ENSG00000101654:ENST00000588457:exon5:c.G438A:p.L146L;	7.7640039109793E-4	0.1
18	13741688	G	C	18	13741689	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.G972C:p.L324F;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.G246C:p.L82F;ENSG00000101654:ENST00000383314:exon7:c.G972C:p.L324F;ENSG00000101654:ENST00000592764:exon7:c.G972C:p.L324F;ENSG00000101654:ENST00000262173:exon5:c.G972C:p.L324F;ENSG00000101654:ENST00000543302:exon6:c.G972C:p.L324F;ENSG00000101654:ENST00000589866:exon6:c.G972C:p.L324F;ENSG00000101654:ENST00000588457:exon5:c.G438C:p.L146F;	0.412249455779228	0.496
18	13741688	G	T	18	13741689	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.G972T:p.L324F;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.G246T:p.L82F;ENSG00000101654:ENST00000383314:exon7:c.G972T:p.L324F;ENSG00000101654:ENST00000592764:exon7:c.G972T:p.L324F;ENSG00000101654:ENST00000262173:exon5:c.G972T:p.L324F;ENSG00000101654:ENST00000543302:exon6:c.G972T:p.L324F;ENSG00000101654:ENST00000589866:exon6:c.G972T:p.L324F;ENSG00000101654:ENST00000588457:exon5:c.G438T:p.L146F;	0.593953432557897	0.416
18	13741689	A	C	18	13741690	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.A973C:p.I325L;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.A247C:p.I83L;ENSG00000101654:ENST00000383314:exon7:c.A973C:p.I325L;ENSG00000101654:ENST00000592764:exon7:c.A973C:p.I325L;ENSG00000101654:ENST00000262173:exon5:c.A973C:p.I325L;ENSG00000101654:ENST00000543302:exon6:c.A973C:p.I325L;ENSG00000101654:ENST00000589866:exon6:c.A973C:p.I325L;ENSG00000101654:ENST00000588457:exon5:c.A439C:p.I147L;	0.994989695229535	0.95
18	13741689	A	G	18	13741690	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.A973G:p.I325V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.A247G:p.I83V;ENSG00000101654:ENST00000383314:exon7:c.A973G:p.I325V;ENSG00000101654:ENST00000592764:exon7:c.A973G:p.I325V;ENSG00000101654:ENST00000262173:exon5:c.A973G:p.I325V;ENSG00000101654:ENST00000543302:exon6:c.A973G:p.I325V;ENSG00000101654:ENST00000589866:exon6:c.A973G:p.I325V;ENSG00000101654:ENST00000588457:exon5:c.A439G:p.I147V;	0.266916614816798	0.262
18	13741689	A	T	18	13741690	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.A973T:p.I325L;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.A247T:p.I83L;ENSG00000101654:ENST00000383314:exon7:c.A973T:p.I325L;ENSG00000101654:ENST00000592764:exon7:c.A973T:p.I325L;ENSG00000101654:ENST00000262173:exon5:c.A973T:p.I325L;ENSG00000101654:ENST00000543302:exon6:c.A973T:p.I325L;ENSG00000101654:ENST00000589866:exon6:c.A973T:p.I325L;ENSG00000101654:ENST00000588457:exon5:c.A439T:p.I147L;	0.996242267256555	0.908
18	13741690	T	A	18	13741691	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.T974A:p.I325K;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.T248A:p.I83K;ENSG00000101654:ENST00000383314:exon7:c.T974A:p.I325K;ENSG00000101654:ENST00000592764:exon7:c.T974A:p.I325K;ENSG00000101654:ENST00000262173:exon5:c.T974A:p.I325K;ENSG00000101654:ENST00000543302:exon6:c.T974A:p.I325K;ENSG00000101654:ENST00000589866:exon6:c.T974A:p.I325K;ENSG00000101654:ENST00000588457:exon5:c.T440A:p.I147K;	0.782071120700124	0.752
18	13741690	T	C	18	13741691	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.T974C:p.I325T;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.T248C:p.I83T;ENSG00000101654:ENST00000383314:exon7:c.T974C:p.I325T;ENSG00000101654:ENST00000592764:exon7:c.T974C:p.I325T;ENSG00000101654:ENST00000262173:exon5:c.T974C:p.I325T;ENSG00000101654:ENST00000543302:exon6:c.T974C:p.I325T;ENSG00000101654:ENST00000589866:exon6:c.T974C:p.I325T;ENSG00000101654:ENST00000588457:exon5:c.T440C:p.I147T;	0.925216933261752	0.836
18	13741690	T	G	18	13741691	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon7:c.T974G:p.I325R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon5:c.T248G:p.I83R;ENSG00000101654:ENST00000383314:exon7:c.T974G:p.I325R;ENSG00000101654:ENST00000592764:exon7:c.T974G:p.I325R;ENSG00000101654:ENST00000262173:exon5:c.T974G:p.I325R;ENSG00000101654:ENST00000543302:exon6:c.T974G:p.I325R;ENSG00000101654:ENST00000589866:exon6:c.T974G:p.I325R;ENSG00000101654:ENST00000588457:exon5:c.T440G:p.I147R;	0.287547137788836	0.372
18	13741691	G	A	18	13741692	y	y	splicing	RNMT(NM_003799:exon7:c.974+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.974+1G>A;ENST00000383314:exon7:c.974+1G>A;ENST00000535051:exon5:c.248+1G>A;ENST00000588457:exon5:c.440+1G>A;ENST00000592764:exon7:c.974+1G>A;ENST00000589866:exon6:c.974+1G>A;ENST00000262173:exon5:c.974+1G>A)	.	.	0.999986675681007	0.94
18	13741691	G	C	18	13741692	y	y	splicing	RNMT(NM_003799:exon7:c.974+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.974+1G>C;ENST00000383314:exon7:c.974+1G>C;ENST00000535051:exon5:c.248+1G>C;ENST00000588457:exon5:c.440+1G>C;ENST00000592764:exon7:c.974+1G>C;ENST00000589866:exon6:c.974+1G>C;ENST00000262173:exon5:c.974+1G>C)	.	.	0.999986675681007	0.94
18	13741691	G	T	18	13741692	y	y	splicing	RNMT(NM_003799:exon7:c.974+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.974+1G>T;ENST00000383314:exon7:c.974+1G>T;ENST00000535051:exon5:c.248+1G>T;ENST00000588457:exon5:c.440+1G>T;ENST00000592764:exon7:c.974+1G>T;ENST00000589866:exon6:c.974+1G>T;ENST00000262173:exon5:c.974+1G>T)	.	.	0.999986675681007	0.94
18	13741692	T	A	18	13741693	y	y	splicing	RNMT(NM_003799:exon7:c.974+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.974+2T>A;ENST00000383314:exon7:c.974+2T>A;ENST00000535051:exon5:c.248+2T>A;ENST00000588457:exon5:c.440+2T>A;ENST00000592764:exon7:c.974+2T>A;ENST00000589866:exon6:c.974+2T>A;ENST00000262173:exon5:c.974+2T>A)	.	.	0.999989917668626	0.928
18	13741692	T	C	18	13741693	y	y	splicing	RNMT(NM_003799:exon7:c.974+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.974+2T>C;ENST00000383314:exon7:c.974+2T>C;ENST00000535051:exon5:c.248+2T>C;ENST00000588457:exon5:c.440+2T>C;ENST00000592764:exon7:c.974+2T>C;ENST00000589866:exon6:c.974+2T>C;ENST00000262173:exon5:c.974+2T>C)	.	.	0.993964682184248	0.604
18	13741692	T	G	18	13741693	y	y	splicing	RNMT(NM_003799:exon7:c.974+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon6:c.974+2T>G;ENST00000383314:exon7:c.974+2T>G;ENST00000535051:exon5:c.248+2T>G;ENST00000588457:exon5:c.440+2T>G;ENST00000592764:exon7:c.974+2T>G;ENST00000589866:exon6:c.974+2T>G;ENST00000262173:exon5:c.974+2T>G)	.	.	0.999989917668626	0.928
18	13741693	A	C	18	13741694	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999560114368954	0.764
18	13741693	A	G	18	13741694	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00296801624030102	0.144
18	13741693	A	T	18	13741694	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.998230821168566	0.758
18	13741694	A	C	18	13741695	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.982844771955927	0.772
18	13741694	A	G	18	13741695	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.995773279789923	0.898
18	13741694	A	T	18	13741695	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99755879117202	0.854
18	13741695	G	A	18	13741696	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999910226835085	0.898
18	13741695	G	C	18	13741696	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.998475988987533	0.962
18	13741695	G	T	18	13741696	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999956987499888	0.942
18	13741696	T	A	18	13741697	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.200401508024047	0.436
18	13741696	T	C	18	13741697	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0458224446943815	0.34
18	13741696	T	G	18	13741697	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0124306009842727	0.276
18	13741697	A	C	18	13741698	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.87710201030456E-5	0.006
18	13741697	A	G	18	13741698	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.87710201030456E-5	0.006
18	13741697	A	T	18	13741698	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.45170072801036E-5	0.006
18	13741698	C	A	18	13741699	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.28653501000055E-4	0.0
18	13741698	C	G	18	13741699	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.28653501000055E-4	0.0
18	13741698	C	T	18	13741699	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.45645223317224E-5	0.0
18	13742475	T	A	18	13742476	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.901155872836876	.
18	13742475	T	C	18	13742476	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.024971646415219	.
18	13742475	T	G	18	13742476	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.997809324734642	.
18	13742476	A	C	18	13742477	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.24505027918345E-4	.
18	13742476	A	G	18	13742477	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.43091241709075E-4	.
18	13742476	A	T	18	13742477	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.89212744609325E-4	.
18	13742477	A	C	18	13742478	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.49012600160314E-4	.
18	13742477	A	G	18	13742478	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.957318654962589	.
18	13742477	A	T	18	13742478	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.49012600160314E-4	.
18	13742478	C	A	18	13742479	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00135506802346107	.
18	13742478	C	G	18	13742479	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.988002117325363	.
18	13742478	C	T	18	13742479	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.47907612927349E-4	.
18	13742479	C	A	18	13742480	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.018681140830403	.
18	13742479	C	G	18	13742480	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00442040620344071	.
18	13742479	C	T	18	13742480	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.17306696535105E-5	.
18	13742480	T	A	18	13742481	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0050251142811629	.
18	13742480	T	C	18	13742481	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.90792966608996E-5	.
18	13742480	T	G	18	13742481	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0050251142811629	.
18	13742481	T	A	18	13742482	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.998369805513814	.
18	13742481	T	C	18	13742482	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00103401592041879	.
18	13742481	T	G	18	13742482	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.674434139512773	.
18	13742482	G	A	18	13742483	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.97840502243647E-4	.
18	13742482	G	C	18	13742483	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.20376834647834E-5	.
18	13742482	G	T	18	13742483	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.28788985327094E-4	.
18	13742483	A	C	18	13742484	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.62444891187208E-4	.
18	13742483	A	G	18	13742484	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.41708408307137E-4	.
18	13742483	A	T	18	13742484	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.98458288599635E-4	.
18	13742484	T	A	18	13742485	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00209533214484094	.
18	13742484	T	C	18	13742485	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.9877296136095E-5	.
18	13742484	T	G	18	13742485	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0091450739345963	.
18	13742485	A	C	18	13742486	y	y	splicing	RNMT(NM_003799:exon8:c.975-2A>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.975-2A>C;ENST00000383314:exon8:c.975-2A>C;ENST00000535051:exon6:c.249-2A>C;ENST00000588457:exon6:c.441-2A>C;ENST00000592764:exon8:c.975-2A>C;ENST00000589866:exon7:c.975-2A>C;ENST00000262173:exon6:c.975-2A>C)	.	.	0.999905345038931	.
18	13742485	A	G	18	13742486	y	y	splicing	RNMT(NM_003799:exon8:c.975-2A>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.975-2A>G;ENST00000383314:exon8:c.975-2A>G;ENST00000535051:exon6:c.249-2A>G;ENST00000588457:exon6:c.441-2A>G;ENST00000592764:exon8:c.975-2A>G;ENST00000589866:exon7:c.975-2A>G;ENST00000262173:exon6:c.975-2A>G)	.	.	0.999905345038931	.
18	13742485	A	T	18	13742486	y	y	splicing	RNMT(NM_003799:exon8:c.975-2A>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.975-2A>T;ENST00000383314:exon8:c.975-2A>T;ENST00000535051:exon6:c.249-2A>T;ENST00000588457:exon6:c.441-2A>T;ENST00000592764:exon8:c.975-2A>T;ENST00000589866:exon7:c.975-2A>T;ENST00000262173:exon6:c.975-2A>T)	.	.	0.999905345038931	.
18	13742486	G	A	18	13742487	y	y	splicing	RNMT(NM_003799:exon8:c.975-1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.975-1G>A;ENST00000383314:exon8:c.975-1G>A;ENST00000535051:exon6:c.249-1G>A;ENST00000588457:exon6:c.441-1G>A;ENST00000592764:exon8:c.975-1G>A;ENST00000589866:exon7:c.975-1G>A;ENST00000262173:exon6:c.975-1G>A)	.	.	0.999983347500877	.
18	13742486	G	C	18	13742487	y	y	splicing	RNMT(NM_003799:exon8:c.975-1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.975-1G>C;ENST00000383314:exon8:c.975-1G>C;ENST00000535051:exon6:c.249-1G>C;ENST00000588457:exon6:c.441-1G>C;ENST00000592764:exon8:c.975-1G>C;ENST00000589866:exon7:c.975-1G>C;ENST00000262173:exon6:c.975-1G>C)	.	.	0.999983122244869	.
18	13742486	G	T	18	13742487	y	y	splicing	RNMT(NM_003799:exon8:c.975-1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.975-1G>T;ENST00000383314:exon8:c.975-1G>T;ENST00000535051:exon6:c.249-1G>T;ENST00000588457:exon6:c.441-1G>T;ENST00000592764:exon8:c.975-1G>T;ENST00000589866:exon7:c.975-1G>T;ENST00000262173:exon6:c.975-1G>T)	.	.	0.999983347500877	.
18	13742487	A	C	18	13742488	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon8:c.A975C:p.I325I;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.A249C:p.I83I;ENSG00000101654:ENST00000383314:exon8:c.A975C:p.I325I;ENSG00000101654:ENST00000592764:exon8:c.A975C:p.I325I;ENSG00000101654:ENST00000262173:exon6:c.A975C:p.I325I;ENSG00000101654:ENST00000543302:exon7:c.A975C:p.I325I;ENSG00000101654:ENST00000589866:exon7:c.A975C:p.I325I;ENSG00000101654:ENST00000588457:exon6:c.A441C:p.I147I;	0.0321278283507086	.
18	13742487	A	G	18	13742488	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.A975G:p.I325M;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.A249G:p.I83M;ENSG00000101654:ENST00000383314:exon8:c.A975G:p.I325M;ENSG00000101654:ENST00000592764:exon8:c.A975G:p.I325M;ENSG00000101654:ENST00000262173:exon6:c.A975G:p.I325M;ENSG00000101654:ENST00000543302:exon7:c.A975G:p.I325M;ENSG00000101654:ENST00000589866:exon7:c.A975G:p.I325M;ENSG00000101654:ENST00000588457:exon6:c.A441G:p.I147M;	0.00131003081636483	.
18	13742487	A	T	18	13742488	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon8:c.A975T:p.I325I;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.A249T:p.I83I;ENSG00000101654:ENST00000383314:exon8:c.A975T:p.I325I;ENSG00000101654:ENST00000592764:exon8:c.A975T:p.I325I;ENSG00000101654:ENST00000262173:exon6:c.A975T:p.I325I;ENSG00000101654:ENST00000543302:exon7:c.A975T:p.I325I;ENSG00000101654:ENST00000589866:exon7:c.A975T:p.I325I;ENSG00000101654:ENST00000588457:exon6:c.A441T:p.I147I;	0.0747168077946016	.
18	13742488	A	C	18	13742489	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon8:c.A976C:p.R326R;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.A250C:p.R84R;ENSG00000101654:ENST00000383314:exon8:c.A976C:p.R326R;ENSG00000101654:ENST00000592764:exon8:c.A976C:p.R326R;ENSG00000101654:ENST00000262173:exon6:c.A976C:p.R326R;ENSG00000101654:ENST00000543302:exon7:c.A976C:p.R326R;ENSG00000101654:ENST00000589866:exon7:c.A976C:p.R326R;ENSG00000101654:ENST00000588457:exon6:c.A442C:p.R148R;	0.0798783676148731	.
18	13742488	A	G	18	13742489	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.A976G:p.R326G;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.A250G:p.R84G;ENSG00000101654:ENST00000383314:exon8:c.A976G:p.R326G;ENSG00000101654:ENST00000592764:exon8:c.A976G:p.R326G;ENSG00000101654:ENST00000262173:exon6:c.A976G:p.R326G;ENSG00000101654:ENST00000543302:exon7:c.A976G:p.R326G;ENSG00000101654:ENST00000589866:exon7:c.A976G:p.R326G;ENSG00000101654:ENST00000588457:exon6:c.A442G:p.R148G;	0.744536540175941	.
18	13742488	A	T	18	13742489	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon8:c.A976T:p.R326X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000535051:exon6:c.A250T:p.R84X;ENSG00000101654:ENST00000383314:exon8:c.A976T:p.R326X;ENSG00000101654:ENST00000592764:exon8:c.A976T:p.R326X;ENSG00000101654:ENST00000262173:exon6:c.A976T:p.R326X;ENSG00000101654:ENST00000543302:exon7:c.A976T:p.R326X;ENSG00000101654:ENST00000589866:exon7:c.A976T:p.R326X;ENSG00000101654:ENST00000588457:exon6:c.A442T:p.R148X;	0.841964941461962	.
18	13742649	T	A	18	13742650	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.T1137A:p.N379K;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.T411A:p.N137K;ENSG00000101654:ENST00000383314:exon8:c.T1137A:p.N379K;ENSG00000101654:ENST00000592764:exon8:c.T1137A:p.N379K;ENSG00000101654:ENST00000262173:exon6:c.T1137A:p.N379K;ENSG00000101654:ENST00000543302:exon7:c.T1137A:p.N379K;ENSG00000101654:ENST00000589866:exon7:c.T1137A:p.N379K;ENSG00000101654:ENST00000588457:exon6:c.T603A:p.N201K;	1.37485876039659E-4	0.0
18	13742649	T	C	18	13742650	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon8:c.T1137C:p.N379N;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.T411C:p.N137N;ENSG00000101654:ENST00000383314:exon8:c.T1137C:p.N379N;ENSG00000101654:ENST00000592764:exon8:c.T1137C:p.N379N;ENSG00000101654:ENST00000262173:exon6:c.T1137C:p.N379N;ENSG00000101654:ENST00000543302:exon7:c.T1137C:p.N379N;ENSG00000101654:ENST00000589866:exon7:c.T1137C:p.N379N;ENSG00000101654:ENST00000588457:exon6:c.T603C:p.N201N;	9.79211733627885E-4	0.002
18	13742649	T	G	18	13742650	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.T1137G:p.N379K;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.T411G:p.N137K;ENSG00000101654:ENST00000383314:exon8:c.T1137G:p.N379K;ENSG00000101654:ENST00000592764:exon8:c.T1137G:p.N379K;ENSG00000101654:ENST00000262173:exon6:c.T1137G:p.N379K;ENSG00000101654:ENST00000543302:exon7:c.T1137G:p.N379K;ENSG00000101654:ENST00000589866:exon7:c.T1137G:p.N379K;ENSG00000101654:ENST00000588457:exon6:c.T603G:p.N201K;	1.98364591409713E-4	0.05
18	13742650	G	A	18	13742651	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.G1138A:p.E380K;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.G412A:p.E138K;ENSG00000101654:ENST00000383314:exon8:c.G1138A:p.E380K;ENSG00000101654:ENST00000592764:exon8:c.G1138A:p.E380K;ENSG00000101654:ENST00000262173:exon6:c.G1138A:p.E380K;ENSG00000101654:ENST00000543302:exon7:c.G1138A:p.E380K;ENSG00000101654:ENST00000589866:exon7:c.G1138A:p.E380K;ENSG00000101654:ENST00000588457:exon6:c.G604A:p.E202K;	4.63047302022567E-4	0.056
18	13742650	G	C	18	13742651	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.G1138C:p.E380Q;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.G412C:p.E138Q;ENSG00000101654:ENST00000383314:exon8:c.G1138C:p.E380Q;ENSG00000101654:ENST00000592764:exon8:c.G1138C:p.E380Q;ENSG00000101654:ENST00000262173:exon6:c.G1138C:p.E380Q;ENSG00000101654:ENST00000543302:exon7:c.G1138C:p.E380Q;ENSG00000101654:ENST00000589866:exon7:c.G1138C:p.E380Q;ENSG00000101654:ENST00000588457:exon6:c.G604C:p.E202Q;	0.173098214736565	0.36
18	13742650	G	T	18	13742651	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon8:c.G1138T:p.E380X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000535051:exon6:c.G412T:p.E138X;ENSG00000101654:ENST00000383314:exon8:c.G1138T:p.E380X;ENSG00000101654:ENST00000592764:exon8:c.G1138T:p.E380X;ENSG00000101654:ENST00000262173:exon6:c.G1138T:p.E380X;ENSG00000101654:ENST00000543302:exon7:c.G1138T:p.E380X;ENSG00000101654:ENST00000589866:exon7:c.G1138T:p.E380X;ENSG00000101654:ENST00000588457:exon6:c.G604T:p.E202X;	0.788550907272253	0.664
18	13742651	A	C	18	13742652	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.A1139C:p.E380A;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.A413C:p.E138A;ENSG00000101654:ENST00000383314:exon8:c.A1139C:p.E380A;ENSG00000101654:ENST00000592764:exon8:c.A1139C:p.E380A;ENSG00000101654:ENST00000262173:exon6:c.A1139C:p.E380A;ENSG00000101654:ENST00000543302:exon7:c.A1139C:p.E380A;ENSG00000101654:ENST00000589866:exon7:c.A1139C:p.E380A;ENSG00000101654:ENST00000588457:exon6:c.A605C:p.E202A;	0.781196876233944	0.692
18	13742651	A	G	18	13742652	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.A1139G:p.E380G;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.A413G:p.E138G;ENSG00000101654:ENST00000383314:exon8:c.A1139G:p.E380G;ENSG00000101654:ENST00000592764:exon8:c.A1139G:p.E380G;ENSG00000101654:ENST00000262173:exon6:c.A1139G:p.E380G;ENSG00000101654:ENST00000543302:exon7:c.A1139G:p.E380G;ENSG00000101654:ENST00000589866:exon7:c.A1139G:p.E380G;ENSG00000101654:ENST00000588457:exon6:c.A605G:p.E202G;	0.486081243041656	0.298
18	13742651	A	T	18	13742652	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon8:c.A1139T:p.E380V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon6:c.A413T:p.E138V;ENSG00000101654:ENST00000383314:exon8:c.A1139T:p.E380V;ENSG00000101654:ENST00000592764:exon8:c.A1139T:p.E380V;ENSG00000101654:ENST00000262173:exon6:c.A1139T:p.E380V;ENSG00000101654:ENST00000543302:exon7:c.A1139T:p.E380V;ENSG00000101654:ENST00000589866:exon7:c.A1139T:p.E380V;ENSG00000101654:ENST00000588457:exon6:c.A605T:p.E202V;	0.978585904736757	0.568
18	13742652	G	A	18	13742653	y	y	splicing	RNMT(NM_003799:exon8:c.1139+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.1139+1G>A;ENST00000383314:exon8:c.1139+1G>A;ENST00000535051:exon6:c.413+1G>A;ENST00000588457:exon6:c.605+1G>A;ENST00000592764:exon8:c.1139+1G>A;ENST00000589866:exon7:c.1139+1G>A;ENST00000262173:exon6:c.1139+1G>A)	.	.	0.999991412108771	0.938
18	13742652	G	C	18	13742653	y	y	splicing	RNMT(NM_003799:exon8:c.1139+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.1139+1G>C;ENST00000383314:exon8:c.1139+1G>C;ENST00000535051:exon6:c.413+1G>C;ENST00000588457:exon6:c.605+1G>C;ENST00000592764:exon8:c.1139+1G>C;ENST00000589866:exon7:c.1139+1G>C;ENST00000262173:exon6:c.1139+1G>C)	.	.	0.999991412108771	0.938
18	13742652	G	T	18	13742653	y	y	splicing	RNMT(NM_003799:exon8:c.1139+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.1139+1G>T;ENST00000383314:exon8:c.1139+1G>T;ENST00000535051:exon6:c.413+1G>T;ENST00000588457:exon6:c.605+1G>T;ENST00000592764:exon8:c.1139+1G>T;ENST00000589866:exon7:c.1139+1G>T;ENST00000262173:exon6:c.1139+1G>T)	.	.	0.999991412108771	0.938
18	13742653	T	A	18	13742654	y	y	splicing	RNMT(NM_003799:exon8:c.1139+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.1139+2T>A;ENST00000383314:exon8:c.1139+2T>A;ENST00000535051:exon6:c.413+2T>A;ENST00000588457:exon6:c.605+2T>A;ENST00000592764:exon8:c.1139+2T>A;ENST00000589866:exon7:c.1139+2T>A;ENST00000262173:exon6:c.1139+2T>A)	.	.	0.999990764389106	0.942
18	13742653	T	C	18	13742654	y	y	splicing	RNMT(NM_003799:exon8:c.1139+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.1139+2T>C;ENST00000383314:exon8:c.1139+2T>C;ENST00000535051:exon6:c.413+2T>C;ENST00000588457:exon6:c.605+2T>C;ENST00000592764:exon8:c.1139+2T>C;ENST00000589866:exon7:c.1139+2T>C;ENST00000262173:exon6:c.1139+2T>C)	.	.	0.999955410404144	0.886
18	13742653	T	G	18	13742654	y	y	splicing	RNMT(NM_003799:exon8:c.1139+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon7:c.1139+2T>G;ENST00000383314:exon8:c.1139+2T>G;ENST00000535051:exon6:c.413+2T>G;ENST00000588457:exon6:c.605+2T>G;ENST00000592764:exon8:c.1139+2T>G;ENST00000589866:exon7:c.1139+2T>G;ENST00000262173:exon6:c.1139+2T>G)	.	.	0.999990764389106	0.942
18	13742654	A	C	18	13742655	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999908973880374	0.982
18	13742654	A	G	18	13742655	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.998853094057135	0.79
18	13742654	A	T	18	13742655	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999881236762464	0.984
18	13742655	A	C	18	13742656	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99994520971292	0.948
18	13742655	A	G	18	13742656	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999872660359867	0.97
18	13742655	A	T	18	13742656	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999958620206862	0.94
18	13742656	G	A	18	13742657	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999950720441194	1.0
18	13742656	G	C	18	13742657	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999950720441194	0.998
18	13742656	G	T	18	13742657	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999950720441194	0.96
18	13742657	A	C	18	13742658	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.104545814983674	0.304
18	13742657	A	G	18	13742658	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0185359912211465	0.122
18	13742657	A	T	18	13742658	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0182060577237799	0.126
18	13742658	A	C	18	13742659	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0014764587066253	0.048
18	13742658	A	G	18	13742659	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00173616223852101	0.028
18	13742658	A	T	18	13742659	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00639246159258066	0.082
18	13742659	G	A	18	13742660	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00164163424301551	0.192
18	13742659	G	C	18	13742660	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00151743815180435	0.14
18	13742659	G	T	18	13742660	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00124645622285312	0.172
18	13746207	T	A	18	13746208	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.862590555841217	0.518
18	13746207	T	C	18	13746208	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00125739105835246	0.156
18	13746207	T	G	18	13746208	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.695229235151864	0.522
18	13746208	T	A	18	13746209	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.116729833533846	0.152
18	13746208	T	C	18	13746209	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00250044695556394	0.1
18	13746208	T	G	18	13746209	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0603034042669389	0.296
18	13746209	T	A	18	13746210	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.79630145090892	0.604
18	13746209	T	C	18	13746210	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.42707702374995E-4	0.128
18	13746209	T	G	18	13746210	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.417772556556223	0.554
18	13746210	T	A	18	13746211	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.250846087825027	0.646
18	13746210	T	C	18	13746211	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00119498324204711	0.082
18	13746210	T	G	18	13746211	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.206675544303338	0.562
18	13746211	T	A	18	13746212	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0430401239607166	0.27
18	13746211	T	C	18	13746212	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.451596941577E-4	0.074
18	13746211	T	G	18	13746212	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00666789810604788	0.144
18	13746212	T	A	18	13746213	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999919854830175	0.99
18	13746212	T	C	18	13746213	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.39820253644383E-4	0.1
18	13746212	T	G	18	13746213	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0279388346931288	0.25
18	13746213	G	A	18	13746214	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.998885476381653	0.976
18	13746213	G	C	18	13746214	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00102782330049555	0.072
18	13746213	G	T	18	13746214	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.85496648553931E-4	0.03
18	13746214	G	A	18	13746215	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00526889689461993	0.058
18	13746214	G	C	18	13746215	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00367255768258971	0.046
18	13746214	G	T	18	13746215	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00180500624860428	0.074
18	13746215	A	C	18	13746216	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00278872558156516	0.048
18	13746215	A	G	18	13746216	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.79950768610088E-4	0.06
18	13746215	A	T	18	13746216	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.011103199003055	0.068
18	13746216	C	A	18	13746217	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999725895438946	0.832
18	13746216	C	G	18	13746217	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999921724183817	0.866
18	13746216	C	T	18	13746217	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0233134427450963	0.232
18	13746217	A	C	18	13746218	y	y	splicing	RNMT(NM_003799:exon9:c.1140-2A>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1140-2A>C;ENST00000383314:exon9:c.1140-2A>C;ENST00000535051:exon7:c.414-2A>C;ENST00000588457:exon7:c.606-2A>C;ENST00000592764:exon9:c.1140-2A>C;ENST00000589866:exon8:c.1140-2A>C;ENST00000262173:exon7:c.1140-2A>C)	.	.	0.999992689121502	0.934
18	13746217	A	G	18	13746218	y	y	splicing	RNMT(NM_003799:exon9:c.1140-2A>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1140-2A>G;ENST00000383314:exon9:c.1140-2A>G;ENST00000535051:exon7:c.414-2A>G;ENST00000588457:exon7:c.606-2A>G;ENST00000592764:exon9:c.1140-2A>G;ENST00000589866:exon8:c.1140-2A>G;ENST00000262173:exon7:c.1140-2A>G)	.	.	0.999992689121502	0.934
18	13746217	A	T	18	13746218	y	y	splicing	RNMT(NM_003799:exon9:c.1140-2A>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1140-2A>T;ENST00000383314:exon9:c.1140-2A>T;ENST00000535051:exon7:c.414-2A>T;ENST00000588457:exon7:c.606-2A>T;ENST00000592764:exon9:c.1140-2A>T;ENST00000589866:exon8:c.1140-2A>T;ENST00000262173:exon7:c.1140-2A>T)	.	.	0.999992689121502	0.934
18	13746218	G	A	18	13746219	y	y	splicing	RNMT(NM_003799:exon9:c.1140-1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1140-1G>A;ENST00000383314:exon9:c.1140-1G>A;ENST00000535051:exon7:c.414-1G>A;ENST00000588457:exon7:c.606-1G>A;ENST00000592764:exon9:c.1140-1G>A;ENST00000589866:exon8:c.1140-1G>A;ENST00000262173:exon7:c.1140-1G>A)	.	.	0.999986741007567	0.94
18	13746218	G	C	18	13746219	y	y	splicing	RNMT(NM_003799:exon9:c.1140-1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1140-1G>C;ENST00000383314:exon9:c.1140-1G>C;ENST00000535051:exon7:c.414-1G>C;ENST00000588457:exon7:c.606-1G>C;ENST00000592764:exon9:c.1140-1G>C;ENST00000589866:exon8:c.1140-1G>C;ENST00000262173:exon7:c.1140-1G>C)	.	.	0.999986741007567	0.94
18	13746218	G	T	18	13746219	y	y	splicing	RNMT(NM_003799:exon9:c.1140-1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1140-1G>T;ENST00000383314:exon9:c.1140-1G>T;ENST00000535051:exon7:c.414-1G>T;ENST00000588457:exon7:c.606-1G>T;ENST00000592764:exon9:c.1140-1G>T;ENST00000589866:exon8:c.1140-1G>T;ENST00000262173:exon7:c.1140-1G>T)	.	.	0.999986741007567	0.94
18	13746219	A	C	18	13746220	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.A1140C:p.E380D;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A414C:p.E138D;ENSG00000101654:ENST00000383314:exon9:c.A1140C:p.E380D;ENSG00000101654:ENST00000592764:exon9:c.A1140C:p.E380D;ENSG00000101654:ENST00000262173:exon7:c.A1140C:p.E380D;ENSG00000101654:ENST00000543302:exon8:c.A1140C:p.E380D;ENSG00000101654:ENST00000589866:exon8:c.A1140C:p.E380D;ENSG00000101654:ENST00000588457:exon7:c.A606C:p.E202D;	0.0828291383554424	0.2
18	13746219	A	G	18	13746220	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon9:c.A1140G:p.E380E;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A414G:p.E138E;ENSG00000101654:ENST00000383314:exon9:c.A1140G:p.E380E;ENSG00000101654:ENST00000592764:exon9:c.A1140G:p.E380E;ENSG00000101654:ENST00000262173:exon7:c.A1140G:p.E380E;ENSG00000101654:ENST00000543302:exon8:c.A1140G:p.E380E;ENSG00000101654:ENST00000589866:exon8:c.A1140G:p.E380E;ENSG00000101654:ENST00000588457:exon7:c.A606G:p.E202E;	0.00337444095175418	0.024
18	13746219	A	T	18	13746220	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.A1140T:p.E380D;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A414T:p.E138D;ENSG00000101654:ENST00000383314:exon9:c.A1140T:p.E380D;ENSG00000101654:ENST00000592764:exon9:c.A1140T:p.E380D;ENSG00000101654:ENST00000262173:exon7:c.A1140T:p.E380D;ENSG00000101654:ENST00000543302:exon8:c.A1140T:p.E380D;ENSG00000101654:ENST00000589866:exon8:c.A1140T:p.E380D;ENSG00000101654:ENST00000588457:exon7:c.A606T:p.E202D;	0.0733613498168693	0.22
18	13746220	A	C	18	13746221	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.A1141C:p.M381L;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A415C:p.M139L;ENSG00000101654:ENST00000383314:exon9:c.A1141C:p.M381L;ENSG00000101654:ENST00000592764:exon9:c.A1141C:p.M381L;ENSG00000101654:ENST00000262173:exon7:c.A1141C:p.M381L;ENSG00000101654:ENST00000543302:exon8:c.A1141C:p.M381L;ENSG00000101654:ENST00000589866:exon8:c.A1141C:p.M381L;ENSG00000101654:ENST00000588457:exon7:c.A607C:p.M203L;	0.00243698281423611	0.044
18	13746220	A	G	18	13746221	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.A1141G:p.M381V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A415G:p.M139V;ENSG00000101654:ENST00000383314:exon9:c.A1141G:p.M381V;ENSG00000101654:ENST00000592764:exon9:c.A1141G:p.M381V;ENSG00000101654:ENST00000262173:exon7:c.A1141G:p.M381V;ENSG00000101654:ENST00000543302:exon8:c.A1141G:p.M381V;ENSG00000101654:ENST00000589866:exon8:c.A1141G:p.M381V;ENSG00000101654:ENST00000588457:exon7:c.A607G:p.M203V;	0.777601134787242	0.708
18	13746220	A	T	18	13746221	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.A1141T:p.M381L;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A415T:p.M139L;ENSG00000101654:ENST00000383314:exon9:c.A1141T:p.M381L;ENSG00000101654:ENST00000592764:exon9:c.A1141T:p.M381L;ENSG00000101654:ENST00000262173:exon7:c.A1141T:p.M381L;ENSG00000101654:ENST00000543302:exon8:c.A1141T:p.M381L;ENSG00000101654:ENST00000589866:exon8:c.A1141T:p.M381L;ENSG00000101654:ENST00000588457:exon7:c.A607T:p.M203L;	0.00456514893886239	0.082
18	13746334	G	A	18	13746335	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.G1255A:p.E419K;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.G529A:p.E177K;ENSG00000101654:ENST00000383314:exon9:c.G1255A:p.E419K;ENSG00000101654:ENST00000592764:exon9:c.G1255A:p.E419K;ENSG00000101654:ENST00000262173:exon7:c.G1255A:p.E419K;ENSG00000101654:ENST00000543302:exon8:c.G1255A:p.E419K;ENSG00000101654:ENST00000589866:exon8:c.G1255A:p.E419K;ENSG00000101654:ENST00000588457:exon7:c.G721A:p.E241K;	0.912230960283896	0.75
18	13746334	G	C	18	13746335	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.G1255C:p.E419Q;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.G529C:p.E177Q;ENSG00000101654:ENST00000383314:exon9:c.G1255C:p.E419Q;ENSG00000101654:ENST00000592764:exon9:c.G1255C:p.E419Q;ENSG00000101654:ENST00000262173:exon7:c.G1255C:p.E419Q;ENSG00000101654:ENST00000543302:exon8:c.G1255C:p.E419Q;ENSG00000101654:ENST00000589866:exon8:c.G1255C:p.E419Q;ENSG00000101654:ENST00000588457:exon7:c.G721C:p.E241Q;	0.921818527205361	0.696
18	13746334	G	T	18	13746335	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon9:c.G1255T:p.E419X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000535051:exon7:c.G529T:p.E177X;ENSG00000101654:ENST00000383314:exon9:c.G1255T:p.E419X;ENSG00000101654:ENST00000592764:exon9:c.G1255T:p.E419X;ENSG00000101654:ENST00000262173:exon7:c.G1255T:p.E419X;ENSG00000101654:ENST00000543302:exon8:c.G1255T:p.E419X;ENSG00000101654:ENST00000589866:exon8:c.G1255T:p.E419X;ENSG00000101654:ENST00000588457:exon7:c.G721T:p.E241X;	0.967119342771503	0.836
18	13746335	A	C	18	13746336	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.A1256C:p.E419A;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A530C:p.E177A;ENSG00000101654:ENST00000383314:exon9:c.A1256C:p.E419A;ENSG00000101654:ENST00000592764:exon9:c.A1256C:p.E419A;ENSG00000101654:ENST00000262173:exon7:c.A1256C:p.E419A;ENSG00000101654:ENST00000543302:exon8:c.A1256C:p.E419A;ENSG00000101654:ENST00000589866:exon8:c.A1256C:p.E419A;ENSG00000101654:ENST00000588457:exon7:c.A722C:p.E241A;	0.99231694977931	0.826
18	13746335	A	G	18	13746336	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.A1256G:p.E419G;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A530G:p.E177G;ENSG00000101654:ENST00000383314:exon9:c.A1256G:p.E419G;ENSG00000101654:ENST00000592764:exon9:c.A1256G:p.E419G;ENSG00000101654:ENST00000262173:exon7:c.A1256G:p.E419G;ENSG00000101654:ENST00000543302:exon8:c.A1256G:p.E419G;ENSG00000101654:ENST00000589866:exon8:c.A1256G:p.E419G;ENSG00000101654:ENST00000588457:exon7:c.A722G:p.E241G;	0.994398313380392	0.892
18	13746335	A	T	18	13746336	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.A1256T:p.E419V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.A530T:p.E177V;ENSG00000101654:ENST00000383314:exon9:c.A1256T:p.E419V;ENSG00000101654:ENST00000592764:exon9:c.A1256T:p.E419V;ENSG00000101654:ENST00000262173:exon7:c.A1256T:p.E419V;ENSG00000101654:ENST00000543302:exon8:c.A1256T:p.E419V;ENSG00000101654:ENST00000589866:exon8:c.A1256T:p.E419V;ENSG00000101654:ENST00000588457:exon7:c.A722T:p.E241V;	0.992846290116567	0.622
18	13746336	G	A	18	13746337	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon9:c.G1257A:p.E419E;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.G531A:p.E177E;ENSG00000101654:ENST00000383314:exon9:c.G1257A:p.E419E;ENSG00000101654:ENST00000592764:exon9:c.G1257A:p.E419E;ENSG00000101654:ENST00000262173:exon7:c.G1257A:p.E419E;ENSG00000101654:ENST00000543302:exon8:c.G1257A:p.E419E;ENSG00000101654:ENST00000589866:exon8:c.G1257A:p.E419E;ENSG00000101654:ENST00000588457:exon7:c.G723A:p.E241E;	0.997184983591924	0.778
18	13746336	G	C	18	13746337	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.G1257C:p.E419D;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.G531C:p.E177D;ENSG00000101654:ENST00000383314:exon9:c.G1257C:p.E419D;ENSG00000101654:ENST00000592764:exon9:c.G1257C:p.E419D;ENSG00000101654:ENST00000262173:exon7:c.G1257C:p.E419D;ENSG00000101654:ENST00000543302:exon8:c.G1257C:p.E419D;ENSG00000101654:ENST00000589866:exon8:c.G1257C:p.E419D;ENSG00000101654:ENST00000588457:exon7:c.G723C:p.E241D;	0.999962403497556	0.96
18	13746336	G	T	18	13746337	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon9:c.G1257T:p.E419D;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon7:c.G531T:p.E177D;ENSG00000101654:ENST00000383314:exon9:c.G1257T:p.E419D;ENSG00000101654:ENST00000592764:exon9:c.G1257T:p.E419D;ENSG00000101654:ENST00000262173:exon7:c.G1257T:p.E419D;ENSG00000101654:ENST00000543302:exon8:c.G1257T:p.E419D;ENSG00000101654:ENST00000589866:exon8:c.G1257T:p.E419D;ENSG00000101654:ENST00000588457:exon7:c.G723T:p.E241D;	0.999942395804332	0.98
18	13746337	G	A	18	13746338	y	y	splicing	RNMT(NM_003799:exon9:c.1257+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1257+1G>A;ENST00000383314:exon9:c.1257+1G>A;ENST00000535051:exon7:c.531+1G>A;ENST00000588457:exon7:c.723+1G>A;ENST00000592764:exon9:c.1257+1G>A;ENST00000589866:exon8:c.1257+1G>A;ENST00000262173:exon7:c.1257+1G>A;ENST00000593007:exon1:c.65+1G>A)	.	.	0.999991959366812	0.926
18	13746337	G	C	18	13746338	y	y	splicing	RNMT(NM_003799:exon9:c.1257+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1257+1G>C;ENST00000383314:exon9:c.1257+1G>C;ENST00000535051:exon7:c.531+1G>C;ENST00000588457:exon7:c.723+1G>C;ENST00000592764:exon9:c.1257+1G>C;ENST00000589866:exon8:c.1257+1G>C;ENST00000262173:exon7:c.1257+1G>C;ENST00000593007:exon1:c.65+1G>C)	.	.	0.999991959366812	0.926
18	13746337	G	T	18	13746338	y	y	splicing	RNMT(NM_003799:exon9:c.1257+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1257+1G>T;ENST00000383314:exon9:c.1257+1G>T;ENST00000535051:exon7:c.531+1G>T;ENST00000588457:exon7:c.723+1G>T;ENST00000592764:exon9:c.1257+1G>T;ENST00000589866:exon8:c.1257+1G>T;ENST00000262173:exon7:c.1257+1G>T;ENST00000593007:exon1:c.65+1G>T)	.	.	0.999991959366812	0.926
18	13746338	T	A	18	13746339	y	y	splicing	RNMT(NM_003799:exon9:c.1257+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1257+2T>A;ENST00000383314:exon9:c.1257+2T>A;ENST00000535051:exon7:c.531+2T>A;ENST00000588457:exon7:c.723+2T>A;ENST00000592764:exon9:c.1257+2T>A;ENST00000589866:exon8:c.1257+2T>A;ENST00000262173:exon7:c.1257+2T>A;ENST00000593007:exon1:c.65+2T>A)	.	.	0.999988307841649	0.92
18	13746338	T	C	18	13746339	y	y	splicing	RNMT(NM_003799:exon9:c.1257+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1257+2T>C;ENST00000383314:exon9:c.1257+2T>C;ENST00000535051:exon7:c.531+2T>C;ENST00000588457:exon7:c.723+2T>C;ENST00000592764:exon9:c.1257+2T>C;ENST00000589866:exon8:c.1257+2T>C;ENST00000262173:exon7:c.1257+2T>C;ENST00000593007:exon1:c.65+2T>C)	.	.	0.999962862877378	0.864
18	13746338	T	G	18	13746339	y	y	splicing	RNMT(NM_003799:exon9:c.1257+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon8:c.1257+2T>G;ENST00000383314:exon9:c.1257+2T>G;ENST00000535051:exon7:c.531+2T>G;ENST00000588457:exon7:c.723+2T>G;ENST00000592764:exon9:c.1257+2T>G;ENST00000589866:exon8:c.1257+2T>G;ENST00000262173:exon7:c.1257+2T>G;ENST00000593007:exon1:c.65+2T>G)	.	.	0.999988307841649	0.92
18	13746339	G	A	18	13746340	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.68261540108812E-5	0.018
18	13746339	G	C	18	13746340	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0355093458932105	0.322
18	13746339	G	T	18	13746340	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0181302782271039	0.366
18	13746340	A	C	18	13746341	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.566434783774862	0.35
18	13746340	A	G	18	13746341	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.959112865830984	0.574
18	13746340	A	T	18	13746341	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.937519918409085	0.45
18	13746341	G	A	18	13746342	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.994330251099412	0.724
18	13746341	G	C	18	13746342	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.990448480749301	0.72
18	13746341	G	T	18	13746342	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.997273711038992	0.67
18	13746342	T	A	18	13746343	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.374915872182519	0.502
18	13746342	T	C	18	13746343	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.137899553407721	0.216
18	13746342	T	G	18	13746343	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0421678140021177	0.274
18	13746343	A	C	18	13746344	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.27433000393585E-4	0.0
18	13746343	A	G	18	13746344	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.28653501000055E-4	0.0
18	13746343	A	T	18	13746344	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.01525840672369E-4	0.0
18	13746344	T	A	18	13746345	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.441378894941E-4	0.0
18	13746344	T	C	18	13746345	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.18855065915869E-4	0.018
18	13746344	T	G	18	13746345	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.18855065915869E-4	0.002
18	13752292	T	A	18	13752293	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.44549828553928E-4	0.002
18	13752292	T	C	18	13752293	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.82939670392646E-5	0.0
18	13752292	T	G	18	13752293	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.82939670392646E-5	0.0
18	13752293	A	C	18	13752294	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.00925306948278E-4	0.0
18	13752293	A	G	18	13752294	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.00925306948278E-4	0.0
18	13752293	A	T	18	13752294	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.11389651227104E-4	0.0
18	13752294	T	A	18	13752295	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.83891202920338E-5	0.0
18	13752294	T	C	18	13752295	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.14505838604605E-5	0.008
18	13752294	T	G	18	13752295	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.14505838604605E-5	0.008
18	13752295	T	A	18	13752296	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.15941453541388E-5	0.002
18	13752295	T	C	18	13752296	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.15941453541388E-5	0.002
18	13752295	T	G	18	13752296	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.15941453541388E-5	0.002
18	13752296	G	A	18	13752297	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.95853904142978E-5	0.002
18	13752296	G	C	18	13752297	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.95853904142978E-5	0.002
18	13752296	G	T	18	13752297	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.95853904142978E-5	0.002
18	13752297	T	A	18	13752298	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0018976049924217	0.008
18	13752297	T	C	18	13752298	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00133497835092091	0.01
18	13752297	T	G	18	13752298	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00187734736072865	0.026
18	13752298	A	C	18	13752299	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.02728736892418E-4	0.024
18	13752298	A	G	18	13752299	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.30127177594752E-5	0.008
18	13752298	A	T	18	13752299	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.03839229791523E-4	0.006
18	13752299	A	C	18	13752300	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00281365765567342	0.016
18	13752299	A	G	18	13752300	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00281365765567342	0.016
18	13752299	A	T	18	13752300	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00493089128035242	0.016
18	13752300	C	A	18	13752301	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.2076870637481E-5	0.0
18	13752300	C	G	18	13752301	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.7106675465155E-5	0.0
18	13752300	C	T	18	13752301	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.68632724264029E-5	0.0
18	13752301	T	A	18	13752302	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.99386371585593E-4	0.006
18	13752301	T	C	18	13752302	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.9940397521754E-4	0.004
18	13752301	T	G	18	13752302	n	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.9940397521754E-4	0.004
18	13752302	A	C	18	13752303	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654(ENST00000593007:exon2:c.66-2A>C)	.	.	5.25211152755068E-5	0.0
18	13752302	A	G	18	13752303	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654(ENST00000593007:exon2:c.66-2A>G)	.	.	5.25211152755068E-5	0.0
18	13752302	A	T	18	13752303	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654(ENST00000593007:exon2:c.66-2A>T)	.	.	5.25211152755068E-5	0.0
18	13752303	G	A	18	13752304	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654(ENST00000593007:exon2:c.66-1G>A)	.	.	3.93972165730067E-5	0.0
18	13752303	G	C	18	13752304	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654(ENST00000593007:exon2:c.66-1G>C)	.	.	3.93972165730067E-5	0.0
18	13752303	G	T	18	13752304	n	y	intronic	RNMT	.	.	splicing	ENSG00000101654(ENST00000593007:exon2:c.66-1G>T)	.	.	3.93972165730067E-5	0.0
18	13752304	G	A	18	13752305	n	y	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	6.52913182419846E-5	0.0
18	13752304	G	C	18	13752305	n	y	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	9.43395818796426E-5	0.0
18	13752304	G	T	18	13752305	n	y	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	5.66242958985722E-5	0.0
18	13752305	A	C	18	13752306	n	y	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	1.2611126512209E-5	0.026
18	13752305	A	G	18	13752306	n	y	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	1.16992407941088E-5	0.0
18	13752305	A	T	18	13752306	n	y	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	1.49867814780963E-5	0.0
18	13752313	T	A	18	13752314	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	3.22213192586155E-4	0.044
18	13752313	T	C	18	13752314	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	5.73575770636598E-5	0.006
18	13752313	T	G	18	13752314	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	2.44306890375706E-4	0.032
18	13752314	T	A	18	13752315	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	0.00625876551449978	0.262
18	13752314	T	C	18	13752315	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	3.04954817647811E-4	0.116
18	13752314	T	G	18	13752315	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	0.00225063293466101	0.172
18	13752315	C	A	18	13752316	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	2.0572590551522E-4	0.02
18	13752315	C	G	18	13752316	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	2.64316542264786E-4	0.014
18	13752315	C	T	18	13752316	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	1.73651153333242E-5	0.002
18	13752316	T	A	18	13752317	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	7.69592820828211E-5	0.036
18	13752316	T	C	18	13752317	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	2.41088354831836E-5	0.0
18	13752316	T	G	18	13752317	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	6.54992968117547E-5	0.024
18	13752317	T	A	18	13752318	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	0.00118678136928089	0.16
18	13752317	T	C	18	13752318	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	2.46352353394728E-4	0.048
18	13752317	T	G	18	13752318	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	8.41531832543664E-4	0.116
18	13752318	T	A	18	13752319	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	2.96752733752084E-4	0.07
18	13752318	T	C	18	13752319	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	1.45055444421013E-5	0.002
18	13752318	T	G	18	13752319	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	2.97368281493092E-4	0.068
18	13752319	C	A	18	13752320	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	0.0014218884852267	0.154
18	13752319	C	G	18	13752320	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	0.0105713139626332	0.18
18	13752319	C	T	18	13752320	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	3.82792324433609E-5	0.018
18	13752320	C	A	18	13752321	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	4.11090241241514E-4	0.052
18	13752320	C	G	18	13752321	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	0.00217146301786612	0.124
18	13752320	C	T	18	13752321	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	2.89126245268898E-5	0.016
18	13752321	C	A	18	13752322	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	1.45455214438431E-5	0.0
18	13752321	C	G	18	13752322	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	4.2867940168088E-5	0.0
18	13752321	C	T	18	13752322	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	1.40134273991821E-5	0.0
18	13752322	C	A	18	13752323	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	0.75196517745391	0.5
18	13752322	C	G	18	13752323	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	0.99835576383637	0.842
18	13752322	C	T	18	13752323	y	n	intronic	RNMT	.	.	exonic	ENSG00000101654	unknown	UNKNOWN	3.52654780241632E-4	0.09
18	13752323	A	C	18	13752324	y	n	splicing	RNMT(NM_003799:exon10:c.1258-2A>C)	.	.	exonic;splicing	ENSG00000101654;ENSG00000101654(ENST00000543302:exon9:c.1258-2A>C;ENST00000383314:exon10:c.1258-2A>C;ENST00000535051:exon8:c.532-2A>C;ENST00000588457:exon8:c.724-2A>C;ENST00000592764:exon10:c.1258-2A>C;ENST00000589866:exon9:c.1258-2A>C;ENST00000262173:exon8:c.1258-2A>C)	unknown	UNKNOWN	0.99994568797423	0.93
18	13752323	A	G	18	13752324	y	n	splicing	RNMT(NM_003799:exon10:c.1258-2A>G)	.	.	exonic;splicing	ENSG00000101654;ENSG00000101654(ENST00000543302:exon9:c.1258-2A>G;ENST00000383314:exon10:c.1258-2A>G;ENST00000535051:exon8:c.532-2A>G;ENST00000588457:exon8:c.724-2A>G;ENST00000592764:exon10:c.1258-2A>G;ENST00000589866:exon9:c.1258-2A>G;ENST00000262173:exon8:c.1258-2A>G)	unknown	UNKNOWN	0.99994568797423	0.93
18	13752323	A	T	18	13752324	y	n	splicing	RNMT(NM_003799:exon10:c.1258-2A>T)	.	.	exonic;splicing	ENSG00000101654;ENSG00000101654(ENST00000543302:exon9:c.1258-2A>T;ENST00000383314:exon10:c.1258-2A>T;ENST00000535051:exon8:c.532-2A>T;ENST00000588457:exon8:c.724-2A>T;ENST00000592764:exon10:c.1258-2A>T;ENST00000589866:exon9:c.1258-2A>T;ENST00000262173:exon8:c.1258-2A>T)	unknown	UNKNOWN	0.99994568797423	0.926
18	13752324	G	A	18	13752325	y	n	splicing	RNMT(NM_003799:exon10:c.1258-1G>A)	.	.	exonic;splicing	ENSG00000101654;ENSG00000101654(ENST00000543302:exon9:c.1258-1G>A;ENST00000383314:exon10:c.1258-1G>A;ENST00000535051:exon8:c.532-1G>A;ENST00000588457:exon8:c.724-1G>A;ENST00000592764:exon10:c.1258-1G>A;ENST00000589866:exon9:c.1258-1G>A;ENST00000262173:exon8:c.1258-1G>A)	unknown	UNKNOWN	0.999989072007339	0.934
18	13752324	G	C	18	13752325	y	n	splicing	RNMT(NM_003799:exon10:c.1258-1G>C)	.	.	exonic;splicing	ENSG00000101654;ENSG00000101654(ENST00000543302:exon9:c.1258-1G>C;ENST00000383314:exon10:c.1258-1G>C;ENST00000535051:exon8:c.532-1G>C;ENST00000588457:exon8:c.724-1G>C;ENST00000592764:exon10:c.1258-1G>C;ENST00000589866:exon9:c.1258-1G>C;ENST00000262173:exon8:c.1258-1G>C)	unknown	UNKNOWN	0.999989072007339	0.934
18	13752324	G	T	18	13752325	y	n	splicing	RNMT(NM_003799:exon10:c.1258-1G>T)	.	.	exonic;splicing	ENSG00000101654;ENSG00000101654(ENST00000543302:exon9:c.1258-1G>T;ENST00000383314:exon10:c.1258-1G>T;ENST00000535051:exon8:c.532-1G>T;ENST00000588457:exon8:c.724-1G>T;ENST00000592764:exon10:c.1258-1G>T;ENST00000589866:exon9:c.1258-1G>T;ENST00000262173:exon8:c.1258-1G>T)	unknown	UNKNOWN	0.999989072007339	0.934
18	13752325	C	A	18	13752326	y	n	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.C1258A:p.P420T;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.C532A:p.P178T;ENSG00000101654:ENST00000383314:exon10:c.C1258A:p.P420T;ENSG00000101654:ENST00000592764:exon10:c.C1258A:p.P420T;ENSG00000101654:ENST00000262173:exon8:c.C1258A:p.P420T;ENSG00000101654:ENST00000543302:exon9:c.C1258A:p.P420T;ENSG00000101654:ENST00000589866:exon9:c.C1258A:p.P420T;ENSG00000101654:ENST00000588457:exon8:c.C724A:p.P242T;	8.89562668623214E-5	0.002
18	13752325	C	G	18	13752326	y	n	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.C1258G:p.P420A;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.C532G:p.P178A;ENSG00000101654:ENST00000383314:exon10:c.C1258G:p.P420A;ENSG00000101654:ENST00000592764:exon10:c.C1258G:p.P420A;ENSG00000101654:ENST00000262173:exon8:c.C1258G:p.P420A;ENSG00000101654:ENST00000543302:exon9:c.C1258G:p.P420A;ENSG00000101654:ENST00000589866:exon9:c.C1258G:p.P420A;ENSG00000101654:ENST00000588457:exon8:c.C724G:p.P242A;	3.39108359219542E-4	0.174
18	13752325	C	T	18	13752326	y	n	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.C1258T:p.P420S;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.C532T:p.P178S;ENSG00000101654:ENST00000383314:exon10:c.C1258T:p.P420S;ENSG00000101654:ENST00000592764:exon10:c.C1258T:p.P420S;ENSG00000101654:ENST00000262173:exon8:c.C1258T:p.P420S;ENSG00000101654:ENST00000543302:exon9:c.C1258T:p.P420S;ENSG00000101654:ENST00000589866:exon9:c.C1258T:p.P420S;ENSG00000101654:ENST00000588457:exon8:c.C724T:p.P242S;	8.42716288558633E-4	0.05
18	13752326	C	A	18	13752327	y	n	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.C1259A:p.P420Q;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.C533A:p.P178Q;ENSG00000101654:ENST00000383314:exon10:c.C1259A:p.P420Q;ENSG00000101654:ENST00000592764:exon10:c.C1259A:p.P420Q;ENSG00000101654:ENST00000262173:exon8:c.C1259A:p.P420Q;ENSG00000101654:ENST00000543302:exon9:c.C1259A:p.P420Q;ENSG00000101654:ENST00000589866:exon9:c.C1259A:p.P420Q;ENSG00000101654:ENST00000588457:exon8:c.C725A:p.P242Q;	0.00405686920139515	0.054
18	13752326	C	G	18	13752327	y	n	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.C1259G:p.P420R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.C533G:p.P178R;ENSG00000101654:ENST00000383314:exon10:c.C1259G:p.P420R;ENSG00000101654:ENST00000592764:exon10:c.C1259G:p.P420R;ENSG00000101654:ENST00000262173:exon8:c.C1259G:p.P420R;ENSG00000101654:ENST00000543302:exon9:c.C1259G:p.P420R;ENSG00000101654:ENST00000589866:exon9:c.C1259G:p.P420R;ENSG00000101654:ENST00000588457:exon8:c.C725G:p.P242R;	0.00191375358982254	0.09
18	13752326	C	T	18	13752327	y	n	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.C1259T:p.P420L;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.C533T:p.P178L;ENSG00000101654:ENST00000383314:exon10:c.C1259T:p.P420L;ENSG00000101654:ENST00000592764:exon10:c.C1259T:p.P420L;ENSG00000101654:ENST00000262173:exon8:c.C1259T:p.P420L;ENSG00000101654:ENST00000543302:exon9:c.C1259T:p.P420L;ENSG00000101654:ENST00000589866:exon9:c.C1259T:p.P420L;ENSG00000101654:ENST00000588457:exon8:c.C725T:p.P242L;	0.00164536269159955	0.052
18	13752424	T	A	18	13752425	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.T1357A:p.L453M;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.T631A:p.L211M;ENSG00000101654:ENST00000383314:exon10:c.T1357A:p.L453M;ENSG00000101654:ENST00000592764:exon10:c.T1357A:p.L453M;ENSG00000101654:ENST00000262173:exon8:c.T1357A:p.L453M;ENSG00000101654:ENST00000543302:exon9:c.T1357A:p.L453M;ENSG00000101654:ENST00000589866:exon9:c.T1357A:p.L453M;ENSG00000101654:ENST00000588457:exon8:c.T823A:p.L275M;	9.48584628248722E-5	0.006
18	13752424	T	C	18	13752425	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon10:c.T1357C:p.L453L;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.T631C:p.L211L;ENSG00000101654:ENST00000383314:exon10:c.T1357C:p.L453L;ENSG00000101654:ENST00000592764:exon10:c.T1357C:p.L453L;ENSG00000101654:ENST00000262173:exon8:c.T1357C:p.L453L;ENSG00000101654:ENST00000543302:exon9:c.T1357C:p.L453L;ENSG00000101654:ENST00000589866:exon9:c.T1357C:p.L453L;ENSG00000101654:ENST00000588457:exon8:c.T823C:p.L275L;	5.82270811670618E-5	0.004
18	13752424	T	G	18	13752425	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.T1357G:p.L453V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.T631G:p.L211V;ENSG00000101654:ENST00000383314:exon10:c.T1357G:p.L453V;ENSG00000101654:ENST00000592764:exon10:c.T1357G:p.L453V;ENSG00000101654:ENST00000262173:exon8:c.T1357G:p.L453V;ENSG00000101654:ENST00000543302:exon9:c.T1357G:p.L453V;ENSG00000101654:ENST00000589866:exon9:c.T1357G:p.L453V;ENSG00000101654:ENST00000588457:exon8:c.T823G:p.L275V;	5.3111244532129E-5	0.024
18	13752425	T	A	18	13752426	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon10:c.T1358A:p.L453X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000535051:exon8:c.T632A:p.L211X;ENSG00000101654:ENST00000383314:exon10:c.T1358A:p.L453X;ENSG00000101654:ENST00000592764:exon10:c.T1358A:p.L453X;ENSG00000101654:ENST00000262173:exon8:c.T1358A:p.L453X;ENSG00000101654:ENST00000543302:exon9:c.T1358A:p.L453X;ENSG00000101654:ENST00000589866:exon9:c.T1358A:p.L453X;ENSG00000101654:ENST00000588457:exon8:c.T824A:p.L275X;	0.755977886759287	0.654
18	13752425	T	C	18	13752426	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.T1358C:p.L453S;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.T632C:p.L211S;ENSG00000101654:ENST00000383314:exon10:c.T1358C:p.L453S;ENSG00000101654:ENST00000592764:exon10:c.T1358C:p.L453S;ENSG00000101654:ENST00000262173:exon8:c.T1358C:p.L453S;ENSG00000101654:ENST00000543302:exon9:c.T1358C:p.L453S;ENSG00000101654:ENST00000589866:exon9:c.T1358C:p.L453S;ENSG00000101654:ENST00000588457:exon8:c.T824C:p.L275S;	0.893749606524531	0.706
18	13752425	T	G	18	13752426	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.T1358G:p.L453W;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.T632G:p.L211W;ENSG00000101654:ENST00000383314:exon10:c.T1358G:p.L453W;ENSG00000101654:ENST00000592764:exon10:c.T1358G:p.L453W;ENSG00000101654:ENST00000262173:exon8:c.T1358G:p.L453W;ENSG00000101654:ENST00000543302:exon9:c.T1358G:p.L453W;ENSG00000101654:ENST00000589866:exon9:c.T1358G:p.L453W;ENSG00000101654:ENST00000588457:exon8:c.T824G:p.L275W;	0.0201262978526576	0.148
18	13752426	G	A	18	13752427	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon10:c.G1359A:p.L453L;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.G633A:p.L211L;ENSG00000101654:ENST00000383314:exon10:c.G1359A:p.L453L;ENSG00000101654:ENST00000592764:exon10:c.G1359A:p.L453L;ENSG00000101654:ENST00000262173:exon8:c.G1359A:p.L453L;ENSG00000101654:ENST00000543302:exon9:c.G1359A:p.L453L;ENSG00000101654:ENST00000589866:exon9:c.G1359A:p.L453L;ENSG00000101654:ENST00000588457:exon8:c.G825A:p.L275L;	0.633502158063725	0.668
18	13752426	G	C	18	13752427	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.G1359C:p.L453F;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.G633C:p.L211F;ENSG00000101654:ENST00000383314:exon10:c.G1359C:p.L453F;ENSG00000101654:ENST00000592764:exon10:c.G1359C:p.L453F;ENSG00000101654:ENST00000262173:exon8:c.G1359C:p.L453F;ENSG00000101654:ENST00000543302:exon9:c.G1359C:p.L453F;ENSG00000101654:ENST00000589866:exon9:c.G1359C:p.L453F;ENSG00000101654:ENST00000588457:exon8:c.G825C:p.L275F;	0.962025776573085	0.686
18	13752426	G	T	18	13752427	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon10:c.G1359T:p.L453F;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon8:c.G633T:p.L211F;ENSG00000101654:ENST00000383314:exon10:c.G1359T:p.L453F;ENSG00000101654:ENST00000592764:exon10:c.G1359T:p.L453F;ENSG00000101654:ENST00000262173:exon8:c.G1359T:p.L453F;ENSG00000101654:ENST00000543302:exon9:c.G1359T:p.L453F;ENSG00000101654:ENST00000589866:exon9:c.G1359T:p.L453F;ENSG00000101654:ENST00000588457:exon8:c.G825T:p.L275F;	0.966907748378033	0.694
18	13752427	G	A	18	13752428	y	y	splicing	RNMT(NM_003799:exon10:c.1359+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon9:c.1359+1G>A;ENST00000383314:exon10:c.1359+1G>A;ENST00000535051:exon8:c.633+1G>A;ENST00000588457:exon8:c.825+1G>A;ENST00000592764:exon10:c.1359+1G>A;ENST00000589866:exon9:c.1359+1G>A;ENST00000262173:exon8:c.1359+1G>A;ENST00000593007:exon2:c.188+1G>A)	.	.	0.99996621969971	0.934
18	13752427	G	C	18	13752428	y	y	splicing	RNMT(NM_003799:exon10:c.1359+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon9:c.1359+1G>C;ENST00000383314:exon10:c.1359+1G>C;ENST00000535051:exon8:c.633+1G>C;ENST00000588457:exon8:c.825+1G>C;ENST00000592764:exon10:c.1359+1G>C;ENST00000589866:exon9:c.1359+1G>C;ENST00000262173:exon8:c.1359+1G>C;ENST00000593007:exon2:c.188+1G>C)	.	.	0.999973328973086	0.904
18	13752427	G	T	18	13752428	y	y	splicing	RNMT(NM_003799:exon10:c.1359+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon9:c.1359+1G>T;ENST00000383314:exon10:c.1359+1G>T;ENST00000535051:exon8:c.633+1G>T;ENST00000588457:exon8:c.825+1G>T;ENST00000592764:exon10:c.1359+1G>T;ENST00000589866:exon9:c.1359+1G>T;ENST00000262173:exon8:c.1359+1G>T;ENST00000593007:exon2:c.188+1G>T)	.	.	0.999955326288872	0.906
18	13752428	T	A	18	13752429	y	y	splicing	RNMT(NM_003799:exon10:c.1359+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon9:c.1359+2T>A;ENST00000383314:exon10:c.1359+2T>A;ENST00000535051:exon8:c.633+2T>A;ENST00000588457:exon8:c.825+2T>A;ENST00000592764:exon10:c.1359+2T>A;ENST00000589866:exon9:c.1359+2T>A;ENST00000262173:exon8:c.1359+2T>A;ENST00000593007:exon2:c.188+2T>A)	.	.	0.999871793741964	0.846
18	13752428	T	C	18	13752429	y	y	splicing	RNMT(NM_003799:exon10:c.1359+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon9:c.1359+2T>C;ENST00000383314:exon10:c.1359+2T>C;ENST00000535051:exon8:c.633+2T>C;ENST00000588457:exon8:c.825+2T>C;ENST00000592764:exon10:c.1359+2T>C;ENST00000589866:exon9:c.1359+2T>C;ENST00000262173:exon8:c.1359+2T>C;ENST00000593007:exon2:c.188+2T>C)	.	.	0.925511128523991	0.544
18	13752428	T	G	18	13752429	y	y	splicing	RNMT(NM_003799:exon10:c.1359+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon9:c.1359+2T>G;ENST00000383314:exon10:c.1359+2T>G;ENST00000535051:exon8:c.633+2T>G;ENST00000588457:exon8:c.825+2T>G;ENST00000592764:exon10:c.1359+2T>G;ENST00000589866:exon9:c.1359+2T>G;ENST00000262173:exon8:c.1359+2T>G;ENST00000593007:exon2:c.188+2T>G)	.	.	0.999871793741964	0.806
18	13752429	A	C	18	13752430	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.84331745795258	0.532
18	13752429	A	G	18	13752430	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.29544207085308E-4	0.04
18	13752429	A	T	18	13752430	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.592107577628094	0.464
18	13752430	A	C	18	13752431	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.602613992207589	0.466
18	13752430	A	G	18	13752431	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.895724205878378	0.614
18	13752430	A	T	18	13752431	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.897448123177295	0.612
18	13752431	G	A	18	13752432	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.975185650748341	0.646
18	13752431	G	C	18	13752432	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.984904249125925	0.758
18	13752431	G	T	18	13752432	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.985743940537063	0.646
18	13752432	T	A	18	13752433	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00245960584134643	0.244
18	13752432	T	C	18	13752433	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00278329760799236	0.32
18	13752432	T	G	18	13752433	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.05926394412529E-4	0.198
18	13752433	T	A	18	13752434	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.07014835428848E-5	0.0
18	13752433	T	C	18	13752434	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.07014835428848E-5	0.0
18	13752433	T	G	18	13752434	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.35428655471156E-5	0.002
18	13752434	T	A	18	13752435	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.55533203735188E-5	0.0
18	13752434	T	C	18	13752435	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.9469183429777E-5	0.0
18	13752434	T	G	18	13752435	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.89127002094681E-5	0.0
18	13754101	T	A	18	13754102	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0270404509996545	0.29
18	13754101	T	C	18	13754102	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.1968756087209E-4	0.002
18	13754101	T	G	18	13754102	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0121881239389792	0.256
18	13754102	T	A	18	13754103	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.998679249302601	0.904
18	13754102	T	C	18	13754103	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.6542600889138E-4	0.064
18	13754102	T	G	18	13754103	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.190072172944277	0.338
18	13754103	G	A	18	13754104	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.75817207078305E-5	0.0
18	13754103	G	C	18	13754104	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.16384512415696E-5	0.0
18	13754103	G	T	18	13754104	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.16384512415696E-5	0.01
18	13754104	T	A	18	13754105	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0534258758643799	0.232
18	13754104	T	C	18	13754105	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.18068858482025E-4	0.06
18	13754104	T	G	18	13754105	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0412088023486956	0.236
18	13754105	A	C	18	13754106	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.03580931257371E-4	0.0
18	13754105	A	G	18	13754106	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.33911601463717E-4	0.0
18	13754105	A	T	18	13754106	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.03580931257371E-4	0.0
18	13754106	A	C	18	13754107	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.10336227207885E-5	0.0
18	13754106	A	G	18	13754107	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.995483608414122	0.972
18	13754106	A	T	18	13754107	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.30564878421013E-5	0.0
18	13754107	T	A	18	13754108	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.12225363205011	0.458
18	13754107	T	C	18	13754108	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.23845219835575E-4	0.032
18	13754107	T	G	18	13754108	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999634783806786	0.946
18	13754108	T	A	18	13754109	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.995706984473715	0.912
18	13754108	T	C	18	13754109	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.140935431120499	0.25
18	13754108	T	G	18	13754109	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99516241215979	0.918
18	13754109	T	A	18	13754110	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00313213362677414	0.056
18	13754109	T	C	18	13754110	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.3669231951412E-4	0.054
18	13754109	T	G	18	13754110	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00119669140947782	0.07
18	13754110	T	A	18	13754111	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0672071561584029	0.32
18	13754110	T	C	18	13754111	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.96759191398955E-5	0.01
18	13754110	T	G	18	13754111	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.998525936954518	0.74
18	13754111	A	C	18	13754112	y	y	splicing	RNMT(NM_003799:exon11:c.1360-2A>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1360-2A>C;ENST00000383314:exon11:c.1360-2A>C;ENST00000535051:exon9:c.634-2A>C;ENST00000588457:exon9:c.826-2A>C;ENST00000592764:exon11:c.1360-2A>C;ENST00000589866:exon10:c.1360-2A>C;ENST00000262173:exon9:c.1360-2A>C;ENST00000593007:exon3:c.189-2A>C)	.	.	0.999988247793601	0.928
18	13754111	A	G	18	13754112	y	y	splicing	RNMT(NM_003799:exon11:c.1360-2A>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1360-2A>G;ENST00000383314:exon11:c.1360-2A>G;ENST00000535051:exon9:c.634-2A>G;ENST00000588457:exon9:c.826-2A>G;ENST00000592764:exon11:c.1360-2A>G;ENST00000589866:exon10:c.1360-2A>G;ENST00000262173:exon9:c.1360-2A>G;ENST00000593007:exon3:c.189-2A>G)	.	.	0.999988247793601	0.928
18	13754111	A	T	18	13754112	y	y	splicing	RNMT(NM_003799:exon11:c.1360-2A>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1360-2A>T;ENST00000383314:exon11:c.1360-2A>T;ENST00000535051:exon9:c.634-2A>T;ENST00000588457:exon9:c.826-2A>T;ENST00000592764:exon11:c.1360-2A>T;ENST00000589866:exon10:c.1360-2A>T;ENST00000262173:exon9:c.1360-2A>T;ENST00000593007:exon3:c.189-2A>T)	.	.	0.999988247793601	0.93
18	13754112	G	A	18	13754113	y	y	splicing	RNMT(NM_003799:exon11:c.1360-1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1360-1G>A;ENST00000383314:exon11:c.1360-1G>A;ENST00000535051:exon9:c.634-1G>A;ENST00000588457:exon9:c.826-1G>A;ENST00000592764:exon11:c.1360-1G>A;ENST00000589866:exon10:c.1360-1G>A;ENST00000262173:exon9:c.1360-1G>A;ENST00000593007:exon3:c.189-1G>A)	.	.	0.999993148181228	0.928
18	13754112	G	C	18	13754113	y	y	splicing	RNMT(NM_003799:exon11:c.1360-1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1360-1G>C;ENST00000383314:exon11:c.1360-1G>C;ENST00000535051:exon9:c.634-1G>C;ENST00000588457:exon9:c.826-1G>C;ENST00000592764:exon11:c.1360-1G>C;ENST00000589866:exon10:c.1360-1G>C;ENST00000262173:exon9:c.1360-1G>C;ENST00000593007:exon3:c.189-1G>C)	.	.	0.999993148181228	0.922
18	13754112	G	T	18	13754113	y	y	splicing	RNMT(NM_003799:exon11:c.1360-1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1360-1G>T;ENST00000383314:exon11:c.1360-1G>T;ENST00000535051:exon9:c.634-1G>T;ENST00000588457:exon9:c.826-1G>T;ENST00000592764:exon11:c.1360-1G>T;ENST00000589866:exon10:c.1360-1G>T;ENST00000262173:exon9:c.1360-1G>T;ENST00000593007:exon3:c.189-1G>T)	.	.	0.999993148181228	0.928
18	13754113	G	A	18	13754114	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.G1360A:p.G454R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.G634A:p.G212R;ENSG00000101654:ENST00000383314:exon11:c.G1360A:p.G454R;ENSG00000101654:ENST00000592764:exon11:c.G1360A:p.G454R;ENSG00000101654:ENST00000262173:exon9:c.G1360A:p.G454R;ENSG00000101654:ENST00000543302:exon10:c.G1360A:p.G454R;ENSG00000101654:ENST00000589866:exon10:c.G1360A:p.G454R;ENSG00000101654:ENST00000588457:exon9:c.G826A:p.G276R;	0.999290125293595	0.946
18	13754113	G	C	18	13754114	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.G1360C:p.G454R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.G634C:p.G212R;ENSG00000101654:ENST00000383314:exon11:c.G1360C:p.G454R;ENSG00000101654:ENST00000592764:exon11:c.G1360C:p.G454R;ENSG00000101654:ENST00000262173:exon9:c.G1360C:p.G454R;ENSG00000101654:ENST00000543302:exon10:c.G1360C:p.G454R;ENSG00000101654:ENST00000589866:exon10:c.G1360C:p.G454R;ENSG00000101654:ENST00000588457:exon9:c.G826C:p.G276R;	0.999841222198253	0.984
18	13754113	G	T	18	13754114	y	y	exonic	RNMT	stopgain SNV	RNMT:NM_003799:exon11:c.G1360T:p.G454X;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000535051:exon9:c.G634T:p.G212X;ENSG00000101654:ENST00000383314:exon11:c.G1360T:p.G454X;ENSG00000101654:ENST00000592764:exon11:c.G1360T:p.G454X;ENSG00000101654:ENST00000262173:exon9:c.G1360T:p.G454X;ENSG00000101654:ENST00000543302:exon10:c.G1360T:p.G454X;ENSG00000101654:ENST00000589866:exon10:c.G1360T:p.G454X;ENSG00000101654:ENST00000588457:exon9:c.G826T:p.G276X;	0.99991986582255	0.982
18	13754114	G	A	18	13754115	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.G1361A:p.G454E;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.G635A:p.G212E;ENSG00000101654:ENST00000383314:exon11:c.G1361A:p.G454E;ENSG00000101654:ENST00000592764:exon11:c.G1361A:p.G454E;ENSG00000101654:ENST00000262173:exon9:c.G1361A:p.G454E;ENSG00000101654:ENST00000543302:exon10:c.G1361A:p.G454E;ENSG00000101654:ENST00000589866:exon10:c.G1361A:p.G454E;ENSG00000101654:ENST00000588457:exon9:c.G827A:p.G276E;	0.977727741316216	0.902
18	13754114	G	C	18	13754115	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.G1361C:p.G454A;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.G635C:p.G212A;ENSG00000101654:ENST00000383314:exon11:c.G1361C:p.G454A;ENSG00000101654:ENST00000592764:exon11:c.G1361C:p.G454A;ENSG00000101654:ENST00000262173:exon9:c.G1361C:p.G454A;ENSG00000101654:ENST00000543302:exon10:c.G1361C:p.G454A;ENSG00000101654:ENST00000589866:exon10:c.G1361C:p.G454A;ENSG00000101654:ENST00000588457:exon9:c.G827C:p.G276A;	0.980979002882433	0.832
18	13754114	G	T	18	13754115	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.G1361T:p.G454V;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.G635T:p.G212V;ENSG00000101654:ENST00000383314:exon11:c.G1361T:p.G454V;ENSG00000101654:ENST00000592764:exon11:c.G1361T:p.G454V;ENSG00000101654:ENST00000262173:exon9:c.G1361T:p.G454V;ENSG00000101654:ENST00000543302:exon10:c.G1361T:p.G454V;ENSG00000101654:ENST00000589866:exon10:c.G1361T:p.G454V;ENSG00000101654:ENST00000588457:exon9:c.G827T:p.G276V;	0.979567149712548	0.892
18	13754144	C	A	18	13754145	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.C1391A:p.T464K;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.C665A:p.T222K;ENSG00000101654:ENST00000383314:exon11:c.C1391A:p.T464K;ENSG00000101654:ENST00000592764:exon11:c.C1391A:p.T464K;ENSG00000101654:ENST00000262173:exon9:c.C1391A:p.T464K;ENSG00000101654:ENST00000543302:exon10:c.C1391A:p.T464K;ENSG00000101654:ENST00000589866:exon10:c.C1391A:p.T464K;ENSG00000101654:ENST00000588457:exon9:c.C857A:p.T286K;	0.910170780290534	0.654
18	13754144	C	G	18	13754145	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.C1391G:p.T464R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.C665G:p.T222R;ENSG00000101654:ENST00000383314:exon11:c.C1391G:p.T464R;ENSG00000101654:ENST00000592764:exon11:c.C1391G:p.T464R;ENSG00000101654:ENST00000262173:exon9:c.C1391G:p.T464R;ENSG00000101654:ENST00000543302:exon10:c.C1391G:p.T464R;ENSG00000101654:ENST00000589866:exon10:c.C1391G:p.T464R;ENSG00000101654:ENST00000588457:exon9:c.C857G:p.T286R;	0.858216889870675	0.658
18	13754144	C	T	18	13754145	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.C1391T:p.T464I;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.C665T:p.T222I;ENSG00000101654:ENST00000383314:exon11:c.C1391T:p.T464I;ENSG00000101654:ENST00000592764:exon11:c.C1391T:p.T464I;ENSG00000101654:ENST00000262173:exon9:c.C1391T:p.T464I;ENSG00000101654:ENST00000543302:exon10:c.C1391T:p.T464I;ENSG00000101654:ENST00000589866:exon10:c.C1391T:p.T464I;ENSG00000101654:ENST00000588457:exon9:c.C857T:p.T286I;	0.999038803423309	0.902
18	13754145	A	C	18	13754146	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon11:c.A1392C:p.T464T;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.A666C:p.T222T;ENSG00000101654:ENST00000383314:exon11:c.A1392C:p.T464T;ENSG00000101654:ENST00000592764:exon11:c.A1392C:p.T464T;ENSG00000101654:ENST00000262173:exon9:c.A1392C:p.T464T;ENSG00000101654:ENST00000543302:exon10:c.A1392C:p.T464T;ENSG00000101654:ENST00000589866:exon10:c.A1392C:p.T464T;ENSG00000101654:ENST00000588457:exon9:c.A858C:p.T286T;	0.997102622237884	0.878
18	13754145	A	G	18	13754146	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon11:c.A1392G:p.T464T;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.A666G:p.T222T;ENSG00000101654:ENST00000383314:exon11:c.A1392G:p.T464T;ENSG00000101654:ENST00000592764:exon11:c.A1392G:p.T464T;ENSG00000101654:ENST00000262173:exon9:c.A1392G:p.T464T;ENSG00000101654:ENST00000543302:exon10:c.A1392G:p.T464T;ENSG00000101654:ENST00000589866:exon10:c.A1392G:p.T464T;ENSG00000101654:ENST00000588457:exon9:c.A858G:p.T286T;	0.996883821164284	0.83
18	13754145	A	T	18	13754146	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon11:c.A1392T:p.T464T;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.A666T:p.T222T;ENSG00000101654:ENST00000383314:exon11:c.A1392T:p.T464T;ENSG00000101654:ENST00000592764:exon11:c.A1392T:p.T464T;ENSG00000101654:ENST00000262173:exon9:c.A1392T:p.T464T;ENSG00000101654:ENST00000543302:exon10:c.A1392T:p.T464T;ENSG00000101654:ENST00000589866:exon10:c.A1392T:p.T464T;ENSG00000101654:ENST00000588457:exon9:c.A858T:p.T286T;	0.998962867315258	0.96
18	13754146	A	C	18	13754147	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.A1393C:p.S465R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.A667C:p.S223R;ENSG00000101654:ENST00000383314:exon11:c.A1393C:p.S465R;ENSG00000101654:ENST00000262173:exon9:c.A1393C:p.S465R;ENSG00000101654:ENST00000543302:exon10:c.A1393C:p.S465R;ENSG00000101654:ENST00000589866:exon10:c.A1393C:p.S465R;ENSG00000101654:ENST00000588457:exon9:c.A859C:p.S287R;	0.632631250432778	0.67
18	13754146	A	G	18	13754147	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.A1393G:p.S465G;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon9:c.A667G:p.S223G;ENSG00000101654:ENST00000383314:exon11:c.A1393G:p.S465G;ENSG00000101654:ENST00000592764:exon11:c.A1393G:p.R465G;ENSG00000101654:ENST00000262173:exon9:c.A1393G:p.S465G;ENSG00000101654:ENST00000543302:exon10:c.A1393G:p.S465G;ENSG00000101654:ENST00000589866:exon10:c.A1393G:p.S465G;ENSG00000101654:ENST00000588457:exon9:c.A859G:p.S287G;	0.106086004703556	0.302
18	13754146	A	T	18	13754147	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon11:c.A1393T:p.S465C;	exonic	ENSG00000101654	stopgain SNV	ENSG00000101654:ENST00000592764:exon11:c.A1393T:p.R465X;	0.758462902014008	0.532
18	13754147	G	A	18	13754148	y	y	splicing	RNMT(NM_003799:exon11:c.1393+1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1393+1G>A;ENST00000383314:exon11:c.1393+1G>A;ENST00000535051:exon9:c.667+1G>A;ENST00000588457:exon9:c.859+1G>A;ENST00000592764:exon11:c.1393+1G>A;ENST00000589866:exon10:c.1393+1G>A;ENST00000262173:exon9:c.1393+1G>A;ENST00000593007:exon3:c.222+1G>A)	.	.	0.999986675681007	0.932
18	13754147	G	C	18	13754148	y	y	splicing	RNMT(NM_003799:exon11:c.1393+1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1393+1G>C;ENST00000383314:exon11:c.1393+1G>C;ENST00000535051:exon9:c.667+1G>C;ENST00000588457:exon9:c.859+1G>C;ENST00000592764:exon11:c.1393+1G>C;ENST00000589866:exon10:c.1393+1G>C;ENST00000262173:exon9:c.1393+1G>C;ENST00000593007:exon3:c.222+1G>C)	.	.	0.999986675681007	0.932
18	13754147	G	T	18	13754148	y	y	splicing	RNMT(NM_003799:exon11:c.1393+1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1393+1G>T;ENST00000383314:exon11:c.1393+1G>T;ENST00000535051:exon9:c.667+1G>T;ENST00000588457:exon9:c.859+1G>T;ENST00000592764:exon11:c.1393+1G>T;ENST00000589866:exon10:c.1393+1G>T;ENST00000262173:exon9:c.1393+1G>T;ENST00000593007:exon3:c.222+1G>T)	.	.	0.999986675681007	0.932
18	13754148	T	A	18	13754149	y	y	splicing	RNMT(NM_003799:exon11:c.1393+2T>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1393+2T>A;ENST00000383314:exon11:c.1393+2T>A;ENST00000535051:exon9:c.667+2T>A;ENST00000588457:exon9:c.859+2T>A;ENST00000592764:exon11:c.1393+2T>A;ENST00000589866:exon10:c.1393+2T>A;ENST00000262173:exon9:c.1393+2T>A;ENST00000593007:exon3:c.222+2T>A)	.	.	0.999988247793601	0.928
18	13754148	T	C	18	13754149	y	y	splicing	RNMT(NM_003799:exon11:c.1393+2T>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1393+2T>C;ENST00000383314:exon11:c.1393+2T>C;ENST00000535051:exon9:c.667+2T>C;ENST00000588457:exon9:c.859+2T>C;ENST00000592764:exon11:c.1393+2T>C;ENST00000589866:exon10:c.1393+2T>C;ENST00000262173:exon9:c.1393+2T>C;ENST00000593007:exon3:c.222+2T>C)	.	.	0.999943260809542	0.866
18	13754148	T	G	18	13754149	y	y	splicing	RNMT(NM_003799:exon11:c.1393+2T>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon10:c.1393+2T>G;ENST00000383314:exon11:c.1393+2T>G;ENST00000535051:exon9:c.667+2T>G;ENST00000588457:exon9:c.859+2T>G;ENST00000592764:exon11:c.1393+2T>G;ENST00000589866:exon10:c.1393+2T>G;ENST00000262173:exon9:c.1393+2T>G;ENST00000593007:exon3:c.222+2T>G)	.	.	0.999988247793601	0.928
18	13754149	G	A	18	13754150	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.77930631036734E-5	0.012
18	13754149	G	C	18	13754150	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.978270265816021	0.646
18	13754149	G	T	18	13754150	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.785490741623185	0.514
18	13754150	A	C	18	13754151	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.993050019472586	0.83
18	13754150	A	G	18	13754151	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.997828824951578	0.972
18	13754150	A	T	18	13754151	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999034118387071	0.904
18	13754151	G	A	18	13754152	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999894290480887	0.964
18	13754151	G	C	18	13754152	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999902529355485	0.96
18	13754151	G	T	18	13754152	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.999961875422221	0.984
18	13754152	T	A	18	13754153	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.99409241768096	0.862
18	13754152	T	C	18	13754153	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.994779880668974	0.812
18	13754152	T	G	18	13754153	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.994922289437999	0.91
18	13754153	A	C	18	13754154	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0275127247699427	0.05
18	13754153	A	G	18	13754154	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0229181789629159	0.044
18	13754153	A	T	18	13754154	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0224708633139147	0.108
18	13754154	T	A	18	13754155	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.1610383302172E-4	0.0
18	13754154	T	C	18	13754155	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.5987257889541E-5	0.0
18	13754154	T	G	18	13754155	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	5.5987257889541E-5	0.0
18	13759929	T	A	18	13759930	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.61781451593444E-5	0.066
18	13759929	T	C	18	13759930	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.367814715721E-5	0.02
18	13759929	T	G	18	13759930	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.996447276898828	0.886
18	13759930	T	A	18	13759931	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00580386966241434	0.236
18	13759930	T	C	18	13759931	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00120946789880048	0.09
18	13759930	T	G	18	13759931	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00173723491307186	0.228
18	13759931	T	A	18	13759932	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.332224540849223	0.532
18	13759931	T	C	18	13759932	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0852904341532209	0.396
18	13759931	T	G	18	13759932	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.210575802999806	0.534
18	13759932	C	A	18	13759933	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.32568268581887E-5	0.042
18	13759932	C	G	18	13759933	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	3.8069536295507E-4	0.062
18	13759932	C	T	18	13759933	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.79623991520377E-5	0.03
18	13759933	T	A	18	13759934	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.51611406162153E-5	0.01
18	13759933	T	C	18	13759934	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.83277129954971E-5	0.004
18	13759933	T	G	18	13759934	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	6.00920085688554E-5	0.02
18	13759934	T	A	18	13759935	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	7.05195850590612E-4	0.05
18	13759934	T	C	18	13759935	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	1.57456828304898E-4	0.024
18	13759934	T	G	18	13759935	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.0014316697629329	0.06
18	13759935	C	A	18	13759936	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.99800586672967E-5	0.038
18	13759935	C	G	18	13759936	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	9.19363839239423E-5	0.042
18	13759935	C	T	18	13759936	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	2.78277282594288E-5	0.0
18	13759936	T	A	18	13759937	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00176409066503304	0.226
18	13759936	T	C	18	13759937	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	4.59123145762686E-4	0.024
18	13759936	T	G	18	13759937	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00212675244871877	0.242
18	13759937	T	A	18	13759938	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00374462239593662	0.028
18	13759937	T	C	18	13759938	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00226631805598386	0.024
18	13759937	T	G	18	13759938	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00490767169143209	0.072
18	13759938	T	A	18	13759939	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.00216845853401817	0.142
18	13759938	T	C	18	13759939	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	8.0934038910947E-5	0.028
18	13759938	T	G	18	13759939	y	y	intronic	RNMT	.	.	intronic	ENSG00000101654	.	.	0.978526549324332	0.506
18	13759939	A	C	18	13759940	y	y	splicing	RNMT(NM_003799:exon12:c.1394-2A>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon11:c.1394-2A>C;ENST00000383314:exon12:c.1394-2A>C;ENST00000535051:exon10:c.668-2A>C;ENST00000588457:exon10:c.860-2A>C;ENST00000589866:exon11:c.1394-2A>C;ENST00000262173:exon10:c.1394-2A>C)	.	.	0.999988247793601	0.928
18	13759939	A	G	18	13759940	y	y	splicing	RNMT(NM_003799:exon12:c.1394-2A>G)	.	.	splicing	ENSG00000101654(ENST00000543302:exon11:c.1394-2A>G;ENST00000383314:exon12:c.1394-2A>G;ENST00000535051:exon10:c.668-2A>G;ENST00000588457:exon10:c.860-2A>G;ENST00000589866:exon11:c.1394-2A>G;ENST00000262173:exon10:c.1394-2A>G)	.	.	0.999988247793601	0.928
18	13759939	A	T	18	13759940	y	y	splicing	RNMT(NM_003799:exon12:c.1394-2A>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon11:c.1394-2A>T;ENST00000383314:exon12:c.1394-2A>T;ENST00000535051:exon10:c.668-2A>T;ENST00000588457:exon10:c.860-2A>T;ENST00000589866:exon11:c.1394-2A>T;ENST00000262173:exon10:c.1394-2A>T)	.	.	0.999988247793601	0.928
18	13759940	G	A	18	13759941	y	y	splicing	RNMT(NM_003799:exon12:c.1394-1G>A)	.	.	splicing	ENSG00000101654(ENST00000543302:exon11:c.1394-1G>A;ENST00000383314:exon12:c.1394-1G>A;ENST00000535051:exon10:c.668-1G>A;ENST00000588457:exon10:c.860-1G>A;ENST00000589866:exon11:c.1394-1G>A;ENST00000262173:exon10:c.1394-1G>A)	.	.	0.999976206550861	0.918
18	13759940	G	C	18	13759941	y	y	splicing	RNMT(NM_003799:exon12:c.1394-1G>C)	.	.	splicing	ENSG00000101654(ENST00000543302:exon11:c.1394-1G>C;ENST00000383314:exon12:c.1394-1G>C;ENST00000535051:exon10:c.668-1G>C;ENST00000588457:exon10:c.860-1G>C;ENST00000589866:exon11:c.1394-1G>C;ENST00000262173:exon10:c.1394-1G>C)	.	.	0.999976206550861	0.922
18	13759940	G	T	18	13759941	y	y	splicing	RNMT(NM_003799:exon12:c.1394-1G>T)	.	.	splicing	ENSG00000101654(ENST00000543302:exon11:c.1394-1G>T;ENST00000383314:exon12:c.1394-1G>T;ENST00000535051:exon10:c.668-1G>T;ENST00000588457:exon10:c.860-1G>T;ENST00000589866:exon11:c.1394-1G>T;ENST00000262173:exon10:c.1394-1G>T)	.	.	0.999976206550861	0.922
18	13759941	G	A	18	13759942	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon12:c.G1394A:p.S465N;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon10:c.G668A:p.S223N;ENSG00000101654:ENST00000383314:exon12:c.G1394A:p.S465N;ENSG00000101654:ENST00000262173:exon10:c.G1394A:p.S465N;ENSG00000101654:ENST00000543302:exon11:c.G1394A:p.S465N;ENSG00000101654:ENST00000589866:exon11:c.G1394A:p.S465N;ENSG00000101654:ENST00000588457:exon10:c.G860A:p.S287N;	0.99715689271066	0.868
18	13759941	G	C	18	13759942	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon12:c.G1394C:p.S465T;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon10:c.G668C:p.S223T;ENSG00000101654:ENST00000383314:exon12:c.G1394C:p.S465T;ENSG00000101654:ENST00000262173:exon10:c.G1394C:p.S465T;ENSG00000101654:ENST00000543302:exon11:c.G1394C:p.S465T;ENSG00000101654:ENST00000589866:exon11:c.G1394C:p.S465T;ENSG00000101654:ENST00000588457:exon10:c.G860C:p.S287T;	0.998648890452077	0.854
18	13759941	G	T	18	13759942	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon12:c.G1394T:p.S465I;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon10:c.G668T:p.S223I;ENSG00000101654:ENST00000383314:exon12:c.G1394T:p.S465I;ENSG00000101654:ENST00000262173:exon10:c.G1394T:p.S465I;ENSG00000101654:ENST00000543302:exon11:c.G1394T:p.S465I;ENSG00000101654:ENST00000589866:exon11:c.G1394T:p.S465I;ENSG00000101654:ENST00000588457:exon10:c.G860T:p.S287I;	0.999738242946805	0.902
18	13759942	T	A	18	13759943	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon12:c.T1395A:p.S465R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon10:c.T669A:p.S223R;ENSG00000101654:ENST00000383314:exon12:c.T1395A:p.S465R;ENSG00000101654:ENST00000262173:exon10:c.T1395A:p.S465R;ENSG00000101654:ENST00000543302:exon11:c.T1395A:p.S465R;ENSG00000101654:ENST00000589866:exon11:c.T1395A:p.S465R;ENSG00000101654:ENST00000588457:exon10:c.T861A:p.S287R;	3.21400716787631E-5	0.014
18	13759942	T	C	18	13759943	y	y	exonic	RNMT	synonymous SNV	RNMT:NM_003799:exon12:c.T1395C:p.S465S;	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000535051:exon10:c.T669C:p.S223S;ENSG00000101654:ENST00000383314:exon12:c.T1395C:p.S465S;ENSG00000101654:ENST00000262173:exon10:c.T1395C:p.S465S;ENSG00000101654:ENST00000543302:exon11:c.T1395C:p.S465S;ENSG00000101654:ENST00000589866:exon11:c.T1395C:p.S465S;ENSG00000101654:ENST00000588457:exon10:c.T861C:p.S287S;	2.93403524183359E-4	0.034
18	13759942	T	G	18	13759943	y	y	exonic	RNMT	nonsynonymous SNV	RNMT:NM_003799:exon12:c.T1395G:p.S465R;	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000535051:exon10:c.T669G:p.S223R;ENSG00000101654:ENST00000383314:exon12:c.T1395G:p.S465R;ENSG00000101654:ENST00000262173:exon10:c.T1395G:p.S465R;ENSG00000101654:ENST00000543302:exon11:c.T1395G:p.S465R;ENSG00000101654:ENST00000589866:exon11:c.T1395G:p.S465R;ENSG00000101654:ENST00000588457:exon10:c.T861G:p.S287R;	4.29422240847557E-5	0.024
18	13760205	T	A	18	13760206	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.4536437166225E-4	0.004
18	13760205	T	C	18	13760206	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.46892315219213E-4	0.016
18	13760205	T	G	18	13760206	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.46892315219213E-4	0.012
18	13760206	A	C	18	13760207	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.33950268484782E-4	0.002
18	13760206	A	G	18	13760207	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.33950268484782E-4	0.002
18	13760206	A	T	18	13760207	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.243298286616E-4	0.004
18	13760207	G	A	18	13760208	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.38252604778196E-4	0.024
18	13760207	G	C	18	13760208	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.38252604778196E-4	0.024
18	13760207	G	T	18	13760208	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.38252604778196E-4	0.022
18	13760208	G	A	18	13760209	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon10:c.934+1G>A;ENST00000588457:exon10:c.1126+1G>A)	.	.	0.041159985079885	0.316
18	13760208	G	C	18	13760209	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon10:c.934+1G>C;ENST00000588457:exon10:c.1126+1G>C)	.	.	0.0244474410587017	0.184
18	13760208	G	T	18	13760209	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon10:c.934+1G>T;ENST00000588457:exon10:c.1126+1G>T)	.	.	0.0352806487031253	0.242
18	13760209	T	A	18	13760210	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon10:c.934+2T>A;ENST00000588457:exon10:c.1126+2T>A)	.	.	3.28660734782273E-4	0.008
18	13760209	T	C	18	13760210	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon10:c.934+2T>C;ENST00000588457:exon10:c.1126+2T>C)	.	.	3.63338486537357E-4	0.008
18	13760209	T	G	18	13760210	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon10:c.934+2T>G;ENST00000588457:exon10:c.1126+2T>G)	.	.	3.63338486537357E-4	0.008
18	13760210	A	C	18	13760211	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00795678801987447	0.024
18	13760210	A	G	18	13760211	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00795678801987447	0.024
18	13760210	A	T	18	13760211	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00829003674465697	0.024
18	13760211	A	C	18	13760212	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.91285012458584E-4	0.01
18	13760211	A	G	18	13760212	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.91285012458584E-4	0.008
18	13760211	A	T	18	13760212	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.30819145506541E-4	0.002
18	13760212	T	A	18	13760213	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.72570449881162E-4	0.006
18	13760212	T	C	18	13760213	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.36814517409626E-4	0.008
18	13760212	T	G	18	13760213	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	1.36814517409626E-4	0.008
18	13760213	G	A	18	13760214	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	4.72082991128568E-4	0.17
18	13760213	G	C	18	13760214	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	3.19059404552046E-4	0.158
18	13760213	G	T	18	13760214	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	4.72082991128568E-4	0.162
18	13760214	T	A	18	13760215	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00324533433619169	0.042
18	13760214	T	C	18	13760215	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00324533433619169	0.028
18	13760214	T	G	18	13760215	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00324533433619169	0.03
18	13760215	T	A	18	13760216	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	5.80618050512278E-5	0.002
18	13760215	T	C	18	13760216	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	7.51348127203013E-5	0.0
18	13760215	T	G	18	13760216	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	7.51348127203013E-5	0.0
18	13762026	T	A	18	13762027	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00222044931597881	0.008
18	13762026	T	C	18	13762027	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00154592920084238	0.008
18	13762026	T	G	18	13762027	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	0.00154592920084238	0.008
18	13762027	A	C	18	13762028	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.3994564522384E-5	0.014
18	13762027	A	G	18	13762028	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.3994564522384E-5	0.014
18	13762027	A	T	18	13762028	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.3994564522384E-5	0.014
18	13762028	T	A	18	13762029	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.93750929994865E-5	0.0
18	13762028	T	C	18	13762029	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	6.44366834656947E-5	0.0
18	13762028	T	G	18	13762029	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	6.44366834656947E-5	0.0
18	13762029	T	A	18	13762030	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	5.69439264402225E-5	0.0
18	13762029	T	C	18	13762030	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	5.15941453541388E-5	0.0
18	13762029	T	G	18	13762030	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	5.15941453541388E-5	0.0
18	13762030	C	A	18	13762031	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.64191646885158E-5	0.006
18	13762030	C	G	18	13762031	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.64191646885158E-5	0.006
18	13762030	C	T	18	13762031	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	5.50364818966655E-5	0.008
18	13762031	T	A	18	13762032	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	3.31929338280547E-5	0.004
18	13762031	T	C	18	13762032	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	3.07620641825897E-5	0.004
18	13762031	T	G	18	13762032	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	3.07620641825897E-5	0.004
18	13762032	A	C	18	13762033	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	7.33852833132947E-5	0.006
18	13762032	A	G	18	13762033	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	7.33852833132947E-5	0.006
18	13762032	A	T	18	13762033	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	7.33852833132947E-5	0.016
18	13762033	T	A	18	13762034	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.68622737106591E-5	0.002
18	13762033	T	C	18	13762034	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	3.59209916280968E-5	0.006
18	13762033	T	G	18	13762034	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	3.59209916280968E-5	0.006
18	13762034	T	A	18	13762035	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.6128894829304E-5	0.004
18	13762034	T	C	18	13762035	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.6128894829304E-5	0.006
18	13762034	T	G	18	13762035	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	2.6128894829304E-5	0.006
18	13762035	C	A	18	13762036	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	9.83188681281962E-5	0.016
18	13762035	C	G	18	13762036	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	9.83188681281962E-5	0.008
18	13762035	C	T	18	13762036	n	y	UTR3	RNMT	.	.	UTR3	ENSG00000101654	.	.	7.3525528897954E-5	0.008
18	13762036	A	C	18	13762037	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon11:c.935-2A>C;ENST00000588457:exon11:c.1127-2A>C;ENST00000592764:exon12:c.1394-2A>C;ENST00000593007:exon4:c.223-2A>C)	.	.	3.09395893123295E-5	0.002
18	13762036	A	G	18	13762037	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon11:c.935-2A>G;ENST00000588457:exon11:c.1127-2A>G;ENST00000592764:exon12:c.1394-2A>G;ENST00000593007:exon4:c.223-2A>G)	.	.	3.09395893123295E-5	0.002
18	13762036	A	T	18	13762037	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon11:c.935-2A>T;ENST00000588457:exon11:c.1127-2A>T;ENST00000592764:exon12:c.1394-2A>T;ENST00000593007:exon4:c.223-2A>T)	.	.	3.09395893123295E-5	0.002
18	13762037	G	A	18	13762038	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon11:c.935-1G>A;ENST00000588457:exon11:c.1127-1G>A;ENST00000592764:exon12:c.1394-1G>A;ENST00000593007:exon4:c.223-1G>A)	.	.	4.97864243205666E-5	0.0
18	13762037	G	C	18	13762038	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon11:c.935-1G>C;ENST00000588457:exon11:c.1127-1G>C;ENST00000592764:exon12:c.1394-1G>C;ENST00000593007:exon4:c.223-1G>C)	.	.	4.97864243205666E-5	0.002
18	13762037	G	T	18	13762038	n	y	UTR3	RNMT	.	.	splicing	ENSG00000101654(ENST00000535051:exon11:c.935-1G>T;ENST00000588457:exon11:c.1127-1G>T;ENST00000592764:exon12:c.1394-1G>T;ENST00000593007:exon4:c.223-1G>T)	.	.	4.97864243205666E-5	0.0
18	13762038	G	A	18	13762039	n	y	UTR3	RNMT	.	.	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000592764:exon12:c.G1394A:p.R465K;	7.95605699390462E-4	0.018
18	13762038	G	C	18	13762039	n	y	UTR3	RNMT	.	.	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000592764:exon12:c.G1394C:p.R465T;	7.95605699390462E-4	0.02
18	13762038	G	T	18	13762039	n	y	UTR3	RNMT	.	.	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000592764:exon12:c.G1394T:p.R465I;	7.95605699390462E-4	0.016
18	13762039	A	C	18	13762040	n	y	UTR3	RNMT	.	.	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000592764:exon12:c.A1395C:p.R465S;	4.59797615271383E-5	0.0
18	13762039	A	G	18	13762040	n	y	UTR3	RNMT	.	.	exonic	ENSG00000101654	synonymous SNV	ENSG00000101654:ENST00000592764:exon12:c.A1395G:p.R465R;	4.59797615271383E-5	0.0
18	13762039	A	T	18	13762040	n	y	UTR3	RNMT	.	.	exonic	ENSG00000101654	nonsynonymous SNV	ENSG00000101654:ENST00000592764:exon12:c.A1395T:p.R465S;	4.59797615271383E-5	0.0
18	13885644	A	C	18	13885645	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.00258694132117618	0.104
18	13885644	A	G	18	13885645	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.00561870941401382	0.106
18	13885644	A	T	18	13885645	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.00735908603498772	0.124
18	13885645	C	A	18	13885646	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.599495692570354	0.538
18	13885645	C	G	18	13885646	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.171623886597522	0.512
18	13885645	C	T	18	13885646	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.0169642010684964	0.294
18	13885646	C	A	18	13885647	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999983516200275	0.768
18	13885646	C	G	18	13885647	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999983516200275	0.77
18	13885646	C	T	18	13885647	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999983516200275	0.768
18	13885647	T	A	18	13885648	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999941977319723	0.768
18	13885647	T	C	18	13885648	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999941977319723	0.726
18	13885647	T	G	18	13885648	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999941977319723	0.75
18	13885648	A	C	18	13885649	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.429992281277451	0.584
18	13885648	A	G	18	13885649	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	2.2550882384754E-4	0.0
18	13885648	A	T	18	13885649	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	9.29928034174061E-4	0.06
18	13885649	A	C	18	13885650	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	4.2401634929431E-4	0.016
18	13885649	A	G	18	13885650	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	3.94046302870987E-5	0.0
18	13885649	A	T	18	13885650	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	4.13505994602434E-5	0.0
18	13885650	A	C	18	13885651	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.75939547056802	0.494
18	13885650	A	G	18	13885651	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	9.89362988320503E-4	0.078
18	13885650	A	T	18	13885651	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.910030124707613	0.472
18	13885651	A	C	18	13885652	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.0865944216532654	0.378
18	13885651	A	G	18	13885652	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	3.00795866482939E-5	0.0
18	13885651	A	T	18	13885652	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.0133253329593781	0.288
18	13885652	G	A	18	13885653	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	9.00797693425606E-5	0.002
18	13885652	G	C	18	13885653	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00222245797322033	0.092
18	13885652	G	T	18	13885653	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00182084472339799	0.124
18	13885653	G	A	18	13885654	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	1.97267502362162E-5	0.004
18	13885653	G	C	18	13885654	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	1.48220286749746E-4	0.062
18	13885653	G	T	18	13885654	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.0013651673115681	0.038
18	13885654	G	A	18	13885655	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	1.27775999063326E-4	0.004
18	13885654	G	C	18	13885655	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	9.73982258640882E-4	0.05
18	13885654	G	T	18	13885655	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00276856773297738	0.094
18	13885655	A	C	18	13885656	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	5.43944409899326E-4	0.126
18	13885655	A	G	18	13885656	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	4.67498156158548E-5	0.016
18	13885655	A	T	18	13885656	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00108250998214144	0.11
18	13885656	G	A	18	13885657	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	2.66470213356186E-5	0.002
18	13885656	G	C	18	13885657	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.979540864465531	0.956
18	13885656	G	T	18	13885657	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	2.15839015587572E-4	0.014
18	13885657	T	A	18	13885658	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	9.21030561638132E-6	0.0
18	13885657	T	C	18	13885658	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	1.68892257782486E-5	0.012
18	13885657	T	G	18	13885658	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	7.75698380258372E-6	0.0
18	13915479	G	A	18	13915480	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00164130942876858	0.026
18	13915479	G	C	18	13915480	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00109491415006427	0.016
18	13915479	G	T	18	13915480	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00162378339534682	0.02
18	13915480	T	A	18	13915481	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	1.44101454748109E-4	0.004
18	13915480	T	C	18	13915481	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	1.09069125317345E-4	0.006
18	13915480	T	G	18	13915481	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	1.09069125317345E-4	0.008
18	13915481	A	C	18	13915482	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00183733138871043	0.11
18	13915481	A	G	18	13915482	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00686173219754798	0.152
18	13915481	A	T	18	13915482	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00464519652275598	0.192
18	13915482	C	A	18	13915483	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.768804675246161	0.482
18	13915482	C	G	18	13915483	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.610257708197461	0.444
18	13915482	C	T	18	13915483	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.700456894463976	0.508
18	13915483	T	A	18	13915484	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.387739802868917	0.438
18	13915483	T	C	18	13915484	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.452439261112495	0.374
18	13915483	T	G	18	13915484	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.423870351900522	0.43
18	13915484	T	A	18	13915485	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.733986969689821	0.5
18	13915484	T	C	18	13915485	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.0240818320099409	0.146
18	13915484	T	G	18	13915485	y	y	intronic	MC2R	.	.	intronic	ENSG00000185231	.	.	0.517192128929707	0.48
18	13915485	A	C	18	13915486	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999982151912279	0.894
18	13915485	A	G	18	13915486	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.973377346843255	0.562
18	13915485	A	T	18	13915486	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999970104448312	0.868
18	13915486	C	A	18	13915487	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999956785519844	0.858
18	13915486	C	G	18	13915487	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999956785519844	0.874
18	13915486	C	T	18	13915487	y	y	splicing	MC2R	.	.	splicing	ENSG00000185231	.	.	0.999957897063701	0.892
18	13915487	C	A	18	13915488	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.075748311422908	0.396
18	13915487	C	G	18	13915488	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.137406240595969	0.402
18	13915487	C	T	18	13915488	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.0434997738808788	0.314
18	13915488	T	A	18	13915489	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.0288630512914522	0.344
18	13915488	T	C	18	13915489	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.085618476320902	0.2
18	13915488	T	G	18	13915489	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.0255623139720839	0.352
18	13915489	T	A	18	13915490	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.0516926281282684	0.22
18	13915489	T	C	18	13915490	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	6.73849763601455E-4	0.034
18	13915489	T	G	18	13915490	y	y	UTR5	MC2R	.	.	UTR5	ENSG00000185231	.	.	4.94514168767885E-4	0.004
18	13915621	A	C	18	13915622	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	2.67894152125472E-4	0.008
18	13915621	A	G	18	13915622	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	2.67894152125472E-4	0.008
18	13915621	A	T	18	13915622	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	1.8770041208981E-4	0.012
18	13915622	T	A	18	13915623	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00441569569744403	0.092
18	13915622	T	C	18	13915623	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00441569569744403	0.034
18	13915622	T	G	18	13915623	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00441569569744403	0.034
18	13915623	C	A	18	13915624	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	6.27525596996673E-4	0.008
18	13915623	C	G	18	13915624	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	6.34118384825424E-4	0.004
18	13915623	C	T	18	13915624	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	6.27525596996673E-4	0.002
18	13915624	A	C	18	13915625	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	1.07119785962123E-4	0.032
18	13915624	A	G	18	13915625	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	1.07119785962123E-4	0.034
18	13915624	A	T	18	13915625	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	9.75133889814531E-5	0.03
18	13915625	T	A	18	13915626	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00234954535167801	0.04
18	13915625	T	C	18	13915626	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00234954535167801	0.03
18	13915625	T	G	18	13915626	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	0.00234954535167801	0.044
18	13915626	T	A	18	13915627	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	1.1901289675741E-4	0.008
18	13915626	T	C	18	13915627	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	1.1901289675741E-4	0.006
18	13915626	T	G	18	13915627	n	y	upstream	MC2R	.	.	intronic	ENSG00000185231	.	.	1.1901289675741E-4	0.008
18	13915627	A	C	18	13915628	n	y	upstream	MC2R	.	.	splicing	ENSG00000185231	.	.	2.15628710579927E-4	0.008
18	13915627	A	G	18	13915628	n	y	upstream	MC2R	.	.	splicing	ENSG00000185231	.	.	2.15628710579927E-4	0.008
18	13915627	A	T	18	13915628	n	y	upstream	MC2R	.	.	splicing	ENSG00000185231	.	.	1.95045924528898E-4	0.014
18	13915628	C	A	18	13915629	n	y	upstream	MC2R	.	.	splicing	ENSG00000185231	.	.	0.0110340114840894	0.03
18	13915628	C	G	18	13915629	n	y	upstream	MC2R	.	.	splicing	ENSG00000185231	.	.	0.00918161503787418	0.028
18	13915628	C	T	18	13915629	n	y	upstream	MC2R	.	.	splicing	ENSG00000185231	.	.	0.0110340114840894	0.028
18	13915629	C	A	18	13915630	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.0110340114840894	0.03
18	13915629	C	G	18	13915630	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.0105916366022786	0.028
18	13915629	C	T	18	13915630	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.0110340114840894	0.028
18	13915630	T	A	18	13915631	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	1.286915448822E-4	0.004
18	13915630	T	C	18	13915631	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	1.286915448822E-4	0.012
18	13915630	T	G	18	13915631	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	1.286915448822E-4	0.002
18	13915631	T	A	18	13915632	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.00358875693255834	0.024
18	13915631	T	C	18	13915632	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.00349211905709787	0.026
18	13915631	T	G	18	13915632	n	y	upstream	MC2R	.	.	UTR5	ENSG00000185231	.	.	0.00349211905709787	0.026
18	14101771	C	A	18	14101772	n	y	UTR3	ZNF519	.	.	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000589498:exon3:c.G132T:p.E44D;	5.44385453626159E-5	0.086
18	14101771	C	G	18	14101772	n	y	UTR3	ZNF519	.	.	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000589498:exon3:c.G132C:p.E44D;	5.44385453626159E-5	0.004
18	14101771	C	T	18	14101772	n	y	UTR3	ZNF519	.	.	exonic	ENSG00000175322	synonymous SNV	ENSG00000175322:ENST00000589498:exon3:c.G132A:p.E44E;	5.44385453626159E-5	0.002
18	14101772	T	A	18	14101773	n	y	UTR3	ZNF519	.	.	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000589498:exon3:c.A131T:p.E44V;	1.92772598195944E-5	0.0
18	14101772	T	C	18	14101773	n	y	UTR3	ZNF519	.	.	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000589498:exon3:c.A131G:p.E44G;	3.50378308532496E-5	0.0
18	14101772	T	G	18	14101773	n	y	UTR3	ZNF519	.	.	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000589498:exon3:c.A131C:p.E44A;	3.50378308532496E-5	0.0
18	14101773	C	A	18	14101774	n	y	UTR3	ZNF519	.	.	splicing	ENSG00000175322(ENST00000589498:exon4:c.131-1G>T)	.	.	9.2441885610298E-4	0.004
18	14101773	C	G	18	14101774	n	y	UTR3	ZNF519	.	.	splicing	ENSG00000175322(ENST00000589498:exon4:c.131-1G>C)	.	.	9.2441885610298E-4	0.004
18	14101773	C	T	18	14101774	n	y	UTR3	ZNF519	.	.	splicing	ENSG00000175322(ENST00000589498:exon4:c.131-1G>A)	.	.	9.2441885610298E-4	0.004
18	14101774	T	A	18	14101775	n	y	UTR3	ZNF519	.	.	splicing	ENSG00000175322(ENST00000589498:exon4:c.131-2A>T)	.	.	3.18507030760836E-4	0.07
18	14101774	T	C	18	14101775	n	y	UTR3	ZNF519	.	.	splicing	ENSG00000175322(ENST00000589498:exon4:c.131-2A>G)	.	.	1.53605648190327E-4	0.072
18	14101774	T	G	18	14101775	n	y	UTR3	ZNF519	.	.	splicing	ENSG00000175322(ENST00000589498:exon4:c.131-2A>C)	.	.	1.53605648190327E-4	0.072
18	14101775	G	A	18	14101776	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.28134029491298E-5	0.0
18	14101775	G	C	18	14101776	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.28134029491298E-5	0.0
18	14101775	G	T	18	14101776	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.28134029491298E-5	0.0
18	14101776	C	A	18	14101777	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.00925306948278E-4	0.0
18	14101776	C	G	18	14101777	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.00925306948278E-4	0.0
18	14101776	C	T	18	14101777	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.11389651227104E-4	0.0
18	14101777	A	C	18	14101778	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	9.69291991901352E-5	0.002
18	14101777	A	G	18	14101778	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	9.69291991901352E-5	0.002
18	14101777	A	T	18	14101778	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.3330395574997E-5	0.0
18	14101778	A	C	18	14101779	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.33019643212499E-5	0.0
18	14101778	A	G	18	14101779	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.33019643212499E-5	0.0
18	14101778	A	T	18	14101779	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.33019643212499E-5	0.0
18	14101779	A	C	18	14101780	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.92772598195944E-5	0.0
18	14101779	A	G	18	14101780	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.92772598195944E-5	0.0
18	14101779	A	T	18	14101780	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.92772598195944E-5	0.0
18	14101780	G	A	18	14101781	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	6.12869275217467E-5	0.0
18	14101780	G	C	18	14101781	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.11389651227104E-4	0.0
18	14101780	G	T	18	14101781	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.11389651227104E-4	0.0
18	14101781	A	C	18	14101782	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.92772598195944E-5	0.0
18	14101781	A	G	18	14101782	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.92772598195944E-5	0.0
18	14101781	A	T	18	14101782	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.56509262981882E-5	0.0
18	14101782	C	A	18	14101783	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.9057330508269E-5	0.0
18	14101782	C	G	18	14101783	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.28134029491298E-5	0.002
18	14101782	C	T	18	14101783	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.9057330508269E-5	0.0
18	14101783	A	C	18	14101784	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.90028566392549E-5	0.002
18	14101783	A	G	18	14101784	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.90028566392549E-5	0.002
18	14101783	A	T	18	14101784	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.40839623268995E-5	0.0
18	14101784	A	C	18	14101785	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.74641562475641E-5	0.0
18	14101784	A	G	18	14101785	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.74641562475641E-5	0.0
18	14101784	A	T	18	14101785	n	y	UTR3	ZNF519	.	.	intronic	ENSG00000175322	.	.	7.76930113167985E-5	0.0
18	14106407	A	C	18	14106408	y	y	exonic	ZNF519	synonymous SNV	ZNF519:NM_145287:exon3:c.T132G:p.A44A;	exonic	ENSG00000175322	synonymous SNV	ENSG00000175322:ENST00000590202:exon3:c.T132G:p.A44A;	1.81348012621824E-4	0.018
18	14106407	A	G	18	14106408	y	y	exonic	ZNF519	synonymous SNV	ZNF519:NM_145287:exon3:c.T132C:p.A44A;	exonic	ENSG00000175322	synonymous SNV	ENSG00000175322:ENST00000590202:exon3:c.T132C:p.A44A;	0.00117436801346991	0.084
18	14106407	A	T	18	14106408	y	y	exonic	ZNF519	synonymous SNV	ZNF519:NM_145287:exon3:c.T132A:p.A44A;	exonic	ENSG00000175322	synonymous SNV	ENSG00000175322:ENST00000590202:exon3:c.T132A:p.A44A;	0.00166323155202478	0.042
18	14106408	G	A	18	14106409	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon3:c.C131T:p.A44V;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon3:c.C131T:p.A44V;	2.00774174241355E-4	0.01
18	14106408	G	C	18	14106409	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon3:c.C131G:p.A44G;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon3:c.C131G:p.A44G;	9.7129833530913E-4	0.198
18	14106408	G	T	18	14106409	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon3:c.C131A:p.A44D;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon3:c.C131A:p.A44D;	3.94187336100916E-5	0.0
18	14106409	C	A	18	14106410	y	y	splicing	ZNF519(NM_145287:exon4:c.131-1G>T)	.	.	splicing	ENSG00000175322(ENST00000590202:exon4:c.131-1G>T)	.	.	0.999962153268756	0.648
18	14106409	C	G	18	14106410	y	y	splicing	ZNF519(NM_145287:exon4:c.131-1G>C)	.	.	splicing	ENSG00000175322(ENST00000590202:exon4:c.131-1G>C)	.	.	0.999962153268756	0.646
18	14106409	C	T	18	14106410	y	y	splicing	ZNF519(NM_145287:exon4:c.131-1G>A)	.	.	splicing	ENSG00000175322(ENST00000590202:exon4:c.131-1G>A)	.	.	0.999962153268756	0.648
18	14106410	T	A	18	14106411	y	y	splicing	ZNF519(NM_145287:exon4:c.131-2A>T)	.	.	splicing	ENSG00000175322(ENST00000590202:exon4:c.131-2A>T)	.	.	0.999962153268756	0.706
18	14106410	T	C	18	14106411	y	y	splicing	ZNF519(NM_145287:exon4:c.131-2A>G)	.	.	splicing	ENSG00000175322(ENST00000590202:exon4:c.131-2A>G)	.	.	0.999962153268756	0.638
18	14106410	T	G	18	14106411	y	y	splicing	ZNF519(NM_145287:exon4:c.131-2A>C)	.	.	splicing	ENSG00000175322(ENST00000590202:exon4:c.131-2A>C)	.	.	0.999962153268756	0.632
18	14106411	G	A	18	14106412	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.00176329671153197	0.062
18	14106411	G	C	18	14106412	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999904955454367	0.878
18	14106411	G	T	18	14106412	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.91350587551489	0.642
18	14106412	A	C	18	14106413	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.34174536200405E-5	0.004
18	14106412	A	G	18	14106413	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.99298089937747E-5	0.0
18	14106412	A	T	18	14106413	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.33611828056281E-5	0.0
18	14106413	A	C	18	14106414	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.215170515581013	0.34
18	14106413	A	G	18	14106414	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	8.45044721027169E-4	0.078
18	14106413	A	T	18	14106414	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.0812985415424542	0.3
18	14106414	A	C	18	14106415	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.046706457342481	0.184
18	14106414	A	G	18	14106415	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.19624461300576E-4	0.002
18	14106414	A	T	18	14106415	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.003499148577988	0.084
18	14106415	G	A	18	14106416	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.07877286222298E-5	0.0
18	14106415	G	C	18	14106416	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.87746631312361E-4	0.016
18	14106415	G	T	18	14106416	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.389538441961E-4	0.044
18	14106416	A	C	18	14106417	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.00143806295738839	0.14
18	14106416	A	G	18	14106417	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	7.51925392495801E-5	0.002
18	14106416	A	T	18	14106417	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.00203467999979312	0.112
18	14106417	A	C	18	14106418	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	9.60260148984956E-5	0.058
18	14106417	A	G	18	14106418	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.81625403761252E-5	0.002
18	14106417	A	T	18	14106418	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.02171726363733E-4	0.06
18	14106418	G	A	18	14106419	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.21507142678626E-5	0.0
18	14106418	G	C	18	14106419	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.997769883709182	0.938
18	14106418	G	T	18	14106419	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.15739291782099E-4	0.03
18	14106419	T	A	18	14106420	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.81150714923374E-4	0.026
18	14106419	T	C	18	14106420	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.89310668157391E-5	0.006
18	14106419	T	G	18	14106420	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	8.05555898712396E-5	0.016
18	14106420	A	C	18	14106421	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.09805531119986E-5	0.118
18	14106420	A	G	18	14106421	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	9.60108899437224E-5	0.0
18	14106420	A	T	18	14106421	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.7175283831375E-4	0.084
18	14124341	A	C	18	14124342	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.74458565522611E-5	0.0
18	14124341	A	G	18	14124342	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.74458565522611E-5	0.002
18	14124341	A	T	18	14124342	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.95074136537388E-5	0.0
18	14124342	T	A	18	14124343	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.05916207851542E-4	0.01
18	14124342	T	C	18	14124343	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.14571090345093E-4	0.012
18	14124342	T	G	18	14124343	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	9.86623263837592E-5	0.028
18	14124343	T	A	18	14124344	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	7.50877204278378E-5	0.06
18	14124343	T	C	18	14124344	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	7.75785434547441E-5	0.0
18	14124343	T	G	18	14124344	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	9.92235551046812E-5	0.02
18	14124344	C	A	18	14124345	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999769618191739	0.706
18	14124344	C	G	18	14124345	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999913127434099	0.766
18	14124344	C	T	18	14124345	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999875528825801	0.744
18	14124345	T	A	18	14124346	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999501982814101	0.792
18	14124345	T	C	18	14124346	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999501982814101	0.81
18	14124345	T	G	18	14124346	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.993613798602943	0.766
18	14124346	C	A	18	14124347	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.984540502837259	0.606
18	14124346	C	G	18	14124347	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.875610313377158	0.61
18	14124346	C	T	18	14124347	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	7.50877204278378E-5	0.02
18	14124347	A	C	18	14124348	y	y	splicing	ZNF519(NM_145287:exon3:c.130+2T>G)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.130+2T>G;ENST00000589498:exon3:c.130+2T>G;ENST00000590202:exon3:c.130+2T>G)	.	.	0.999971535061604	0.65
18	14124347	A	G	18	14124348	y	y	splicing	ZNF519(NM_145287:exon3:c.130+2T>C)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.130+2T>C;ENST00000589498:exon3:c.130+2T>C;ENST00000590202:exon3:c.130+2T>C)	.	.	0.999940826097002	0.66
18	14124347	A	T	18	14124348	y	y	splicing	ZNF519(NM_145287:exon3:c.130+2T>A)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.130+2T>A;ENST00000589498:exon3:c.130+2T>A;ENST00000590202:exon3:c.130+2T>A)	.	.	0.999971535061604	0.664
18	14124348	C	A	18	14124349	y	y	splicing	ZNF519(NM_145287:exon3:c.130+1G>T)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.130+1G>T;ENST00000589498:exon3:c.130+1G>T;ENST00000590202:exon3:c.130+1G>T)	.	.	0.999971535061604	0.594
18	14124348	C	G	18	14124349	y	y	splicing	ZNF519(NM_145287:exon3:c.130+1G>C)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.130+1G>C;ENST00000589498:exon3:c.130+1G>C;ENST00000590202:exon3:c.130+1G>C)	.	.	0.999936986952972	0.568
18	14124348	C	T	18	14124349	y	y	splicing	ZNF519(NM_145287:exon3:c.130+1G>A)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.130+1G>A;ENST00000589498:exon3:c.130+1G>A;ENST00000590202:exon3:c.130+1G>A)	.	.	0.999971535061604	0.65
18	14124349	C	A	18	14124350	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.G130T:p.A44S;	exonic	ENSG00000175322	stopgain SNV	ENSG00000175322:ENST00000589498:exon2:c.G130T:p.E44X;	0.999984538502118	0.974
18	14124349	C	G	18	14124350	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.G130C:p.A44P;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.G130C:p.A44P;ENSG00000175322:ENST00000587419:exon2:c.G130C:p.V44L;ENSG00000175322:ENST00000589498:exon2:c.G130C:p.E44Q;	0.999966403929092	0.888
18	14124349	C	T	18	14124350	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.G130A:p.A44T;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.G130A:p.A44T;ENSG00000175322:ENST00000587419:exon2:c.G130A:p.V44M;ENSG00000175322:ENST00000589498:exon2:c.G130A:p.E44K;	0.999979630448486	0.964
18	14124350	C	A	18	14124351	y	y	exonic	ZNF519	synonymous SNV	ZNF519:NM_145287:exon2:c.G129T:p.L43L;	exonic	ENSG00000175322	synonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.G129T:p.L43L;ENSG00000175322:ENST00000587419:exon2:c.G129T:p.L43L;ENSG00000175322:ENST00000589498:exon2:c.G129T:p.L43L;	4.79708613941563E-5	0.002
18	14124350	C	G	18	14124351	y	y	exonic	ZNF519	synonymous SNV	ZNF519:NM_145287:exon2:c.G129C:p.L43L;	exonic	ENSG00000175322	synonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.G129C:p.L43L;ENSG00000175322:ENST00000587419:exon2:c.G129C:p.L43L;ENSG00000175322:ENST00000589498:exon2:c.G129C:p.L43L;	1.15082583907168E-4	0.024
18	14124350	C	T	18	14124351	y	y	exonic	ZNF519	synonymous SNV	ZNF519:NM_145287:exon2:c.G129A:p.L43L;	exonic	ENSG00000175322	synonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.G129A:p.L43L;ENSG00000175322:ENST00000587419:exon2:c.G129A:p.L43L;ENSG00000175322:ENST00000589498:exon2:c.G129A:p.L43L;	2.64508502395105E-4	0.072
18	14124351	A	C	18	14124352	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.T128G:p.L43R;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.T128G:p.L43R;ENSG00000175322:ENST00000587419:exon2:c.T128G:p.L43R;ENSG00000175322:ENST00000589498:exon2:c.T128G:p.L43R;	4.03477595796776E-4	0.054
18	14124351	A	G	18	14124352	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.T128C:p.L43P;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.T128C:p.L43P;ENSG00000175322:ENST00000587419:exon2:c.T128C:p.L43P;ENSG00000175322:ENST00000589498:exon2:c.T128C:p.L43P;	1.08584791129145E-4	0.008
18	14124351	A	T	18	14124352	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.T128A:p.L43Q;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.T128A:p.L43Q;ENSG00000175322:ENST00000587419:exon2:c.T128A:p.L43Q;ENSG00000175322:ENST00000589498:exon2:c.T128A:p.L43Q;	8.1467640989022E-5	0.0
18	14124474	T	A	18	14124475	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.A5T:p.E2V;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.A5T:p.E2V;ENSG00000175322:ENST00000587419:exon2:c.A5T:p.E2V;ENSG00000175322:ENST00000589498:exon2:c.A5T:p.E2V;	5.30320128830595E-5	0.0
18	14124474	T	C	18	14124475	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.A5G:p.E2G;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.A5G:p.E2G;ENSG00000175322:ENST00000587419:exon2:c.A5G:p.E2G;ENSG00000175322:ENST00000589498:exon2:c.A5G:p.E2G;	2.43409633638699E-5	0.018
18	14124474	T	G	18	14124475	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.A5C:p.E2A;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.A5C:p.E2A;ENSG00000175322:ENST00000587419:exon2:c.A5C:p.E2A;ENSG00000175322:ENST00000589498:exon2:c.A5C:p.E2A;	1.27290812146532E-4	0.01
18	14124475	C	A	18	14124476	y	y	exonic	ZNF519	stopgain SNV	ZNF519:NM_145287:exon2:c.G4T:p.E2X;	exonic	ENSG00000175322	stopgain SNV	ENSG00000175322:ENST00000590202:exon2:c.G4T:p.E2X;ENSG00000175322:ENST00000587419:exon2:c.G4T:p.E2X;ENSG00000175322:ENST00000589498:exon2:c.G4T:p.E2X;	0.976396962594929	0.746
18	14124475	C	G	18	14124476	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.G4C:p.E2Q;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.G4C:p.E2Q;ENSG00000175322:ENST00000587419:exon2:c.G4C:p.E2Q;ENSG00000175322:ENST00000589498:exon2:c.G4C:p.E2Q;	0.126446302360828	0.438
18	14124475	C	T	18	14124476	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon2:c.G4A:p.E2K;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon2:c.G4A:p.E2K;ENSG00000175322:ENST00000587419:exon2:c.G4A:p.E2K;ENSG00000175322:ENST00000589498:exon2:c.G4A:p.E2K;	0.00323387502157879	0.11
18	14124476	C	A	18	14124477	y	y	splicing	ZNF519(NM_145287:exon3:c.4-1G>T)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.4-1G>T;ENST00000589498:exon3:c.4-1G>T;ENST00000590202:exon3:c.4-1G>T)	.	.	0.999936986952972	0.572
18	14124476	C	G	18	14124477	y	y	splicing	ZNF519(NM_145287:exon3:c.4-1G>C)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.4-1G>C;ENST00000589498:exon3:c.4-1G>C;ENST00000590202:exon3:c.4-1G>C)	.	.	0.999936986952972	0.588
18	14124476	C	T	18	14124477	y	y	splicing	ZNF519(NM_145287:exon3:c.4-1G>A)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.4-1G>A;ENST00000589498:exon3:c.4-1G>A;ENST00000590202:exon3:c.4-1G>A)	.	.	0.999971535061604	0.582
18	14124477	T	A	18	14124478	y	y	splicing	ZNF519(NM_145287:exon3:c.4-2A>T)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.4-2A>T;ENST00000589498:exon3:c.4-2A>T;ENST00000590202:exon3:c.4-2A>T)	.	.	0.999971535061604	0.652
18	14124477	T	C	18	14124478	y	y	splicing	ZNF519(NM_145287:exon3:c.4-2A>G)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.4-2A>G;ENST00000589498:exon3:c.4-2A>G;ENST00000590202:exon3:c.4-2A>G)	.	.	0.999971535061604	0.576
18	14124477	T	G	18	14124478	y	y	splicing	ZNF519(NM_145287:exon3:c.4-2A>C)	.	.	splicing	ENSG00000175322(ENST00000587419:exon3:c.4-2A>C;ENST00000589498:exon3:c.4-2A>C;ENST00000590202:exon3:c.4-2A>C)	.	.	0.999971535061604	0.578
18	14124478	G	A	18	14124479	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.59211729762171E-4	0.05
18	14124478	G	C	18	14124479	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.99972367948299	0.728
18	14124478	G	T	18	14124479	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.909884351188024	0.642
18	14124479	G	A	18	14124480	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.00653694220352E-5	0.0
18	14124479	G	C	18	14124480	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.05127009300301E-4	0.012
18	14124479	G	T	18	14124480	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.00653694220352E-5	0.0
18	14124480	A	C	18	14124481	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.784368412946415	0.408
18	14124480	A	G	18	14124481	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.00161414108293069	0.044
18	14124480	A	T	18	14124481	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.283650900743435	0.344
18	14124481	A	C	18	14124482	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.024103193733296	0.334
18	14124481	A	G	18	14124482	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	6.44256150451957E-5	0.024
18	14124481	A	T	18	14124482	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.0219335191111889	0.306
18	14124482	A	C	18	14124483	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.00797344714415507	0.186
18	14124482	A	G	18	14124483	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	8.77900861359705E-5	0.012
18	14124482	A	T	18	14124483	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.347574889807833	0.586
18	14124483	C	A	18	14124484	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.30208548633018E-5	0.002
18	14124483	C	G	18	14124484	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.84777562054726E-5	0.0
18	14124483	C	T	18	14124484	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.20065759968324E-4	0.058
18	14124484	A	C	18	14124485	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.00997733052241375	0.236
18	14124484	A	G	18	14124485	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	1.11391846329211E-4	0.022
18	14124484	A	T	18	14124485	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999698031720634	0.952
18	14124485	C	A	18	14124486	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.98370380132972E-5	0.018
18	14124485	C	G	18	14124486	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.20831732737224E-5	0.0
18	14124485	C	T	18	14124486	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.69310465998273E-4	0.022
18	14124486	A	C	18	14124487	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999663411964501	0.926
18	14124486	A	G	18	14124487	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.00181011091550701	0.086
18	14124486	A	T	18	14124487	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.99979005762516	0.944
18	14124487	T	A	18	14124488	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.66115915870275E-5	0.02
18	14124487	T	C	18	14124488	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	7.2543748904562E-5	0.006
18	14124487	T	G	18	14124488	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.70388873635002E-5	0.0
18	14132266	A	C	18	14132267	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	9.40524153039124E-5	0.0
18	14132266	A	G	18	14132267	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	6.86998440239442E-5	0.0
18	14132266	A	T	18	14132267	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	8.71329837638912E-5	0.0
18	14132267	C	A	18	14132268	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	4.79403116205894E-5	0.006
18	14132267	C	G	18	14132268	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	2.86522138995143E-5	0.0
18	14132267	C	T	18	14132268	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	5.20770969939085E-5	0.004
18	14132268	A	C	18	14132269	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.00646867663399983	0.166
18	14132268	A	G	18	14132269	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.0190342829050635	0.126
18	14132268	A	T	18	14132269	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.0772617939415333	0.22
18	14132269	C	A	18	14132270	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999662263025566	0.818
18	14132269	C	G	18	14132270	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.999851254276702	0.906
18	14132269	C	T	18	14132270	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.998373409427768	0.738
18	14132270	T	A	18	14132271	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.993545922236958	0.586
18	14132270	T	C	18	14132271	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.980336572309498	0.634
18	14132270	T	G	18	14132271	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.771021178586431	0.438
18	14132271	C	A	18	14132272	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.116088928937483	0.318
18	14132271	C	G	18	14132272	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	0.680376024506094	0.518
18	14132271	C	T	18	14132272	y	y	intronic	ZNF519	.	.	intronic	ENSG00000175322	.	.	3.81137159080757E-5	0.0
18	14132272	A	C	18	14132273	y	y	splicing	ZNF519(NM_145287:exon2:c.3+2T>G)	.	.	splicing	ENSG00000175322(ENST00000587419:exon2:c.3+2T>G;ENST00000589498:exon2:c.3+2T>G;ENST00000590202:exon2:c.3+2T>G)	.	.	0.999962153268756	0.758
18	14132272	A	G	18	14132273	y	y	splicing	ZNF519(NM_145287:exon2:c.3+2T>C)	.	.	splicing	ENSG00000175322(ENST00000587419:exon2:c.3+2T>C;ENST00000589498:exon2:c.3+2T>C;ENST00000590202:exon2:c.3+2T>C)	.	.	0.999802861458707	0.756
18	14132272	A	T	18	14132273	y	y	splicing	ZNF519(NM_145287:exon2:c.3+2T>A)	.	.	splicing	ENSG00000175322(ENST00000587419:exon2:c.3+2T>A;ENST00000589498:exon2:c.3+2T>A;ENST00000590202:exon2:c.3+2T>A)	.	.	0.999962153268756	0.762
18	14132273	C	A	18	14132274	y	y	splicing	ZNF519(NM_145287:exon2:c.3+1G>T)	.	.	splicing	ENSG00000175322(ENST00000587419:exon2:c.3+1G>T;ENST00000589498:exon2:c.3+1G>T;ENST00000590202:exon2:c.3+1G>T)	.	.	0.999962153268756	0.76
18	14132273	C	G	18	14132274	y	y	splicing	ZNF519(NM_145287:exon2:c.3+1G>C)	.	.	splicing	ENSG00000175322(ENST00000587419:exon2:c.3+1G>C;ENST00000589498:exon2:c.3+1G>C;ENST00000590202:exon2:c.3+1G>C)	.	.	0.999962153268756	0.756
18	14132273	C	T	18	14132274	y	y	splicing	ZNF519(NM_145287:exon2:c.3+1G>A)	.	.	splicing	ENSG00000175322(ENST00000587419:exon2:c.3+1G>A;ENST00000589498:exon2:c.3+1G>A;ENST00000590202:exon2:c.3+1G>A)	.	.	0.999962153268756	0.76
18	14132274	C	A	18	14132275	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.G3T:p.M1I;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.G3T:p.M1I;ENSG00000175322:ENST00000587419:exon1:c.G3T:p.M1I;ENSG00000175322:ENST00000589498:exon1:c.G3T:p.M1I;	0.967952054902594	0.728
18	14132274	C	G	18	14132275	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.G3C:p.M1I;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.G3C:p.M1I;ENSG00000175322:ENST00000587419:exon1:c.G3C:p.M1I;ENSG00000175322:ENST00000589498:exon1:c.G3C:p.M1I;	0.977658219139169	0.748
18	14132274	C	T	18	14132275	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.G3A:p.M1I;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.G3A:p.M1I;ENSG00000175322:ENST00000587419:exon1:c.G3A:p.M1I;ENSG00000175322:ENST00000589498:exon1:c.G3A:p.M1I;	0.9594694438339	0.784
18	14132275	A	C	18	14132276	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.T2G:p.M1R;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.T2G:p.M1R;ENSG00000175322:ENST00000587419:exon1:c.T2G:p.M1R;ENSG00000175322:ENST00000589498:exon1:c.T2G:p.M1R;	0.00109843076622852	0.012
18	14132275	A	G	18	14132276	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.T2C:p.M1T;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.T2C:p.M1T;ENSG00000175322:ENST00000587419:exon1:c.T2C:p.M1T;ENSG00000175322:ENST00000589498:exon1:c.T2C:p.M1T;	9.95817346340246E-5	0.004
18	14132275	A	T	18	14132276	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.T2A:p.M1K;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.T2A:p.M1K;ENSG00000175322:ENST00000587419:exon1:c.T2A:p.M1K;ENSG00000175322:ENST00000589498:exon1:c.T2A:p.M1K;	2.09414789087584E-4	0.138
18	14132276	T	A	18	14132277	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.A1T:p.M1L;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.A1T:p.M1L;ENSG00000175322:ENST00000587419:exon1:c.A1T:p.M1L;ENSG00000175322:ENST00000589498:exon1:c.A1T:p.M1L;	0.00112570573111796	0.084
18	14132276	T	C	18	14132277	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.A1G:p.M1V;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.A1G:p.M1V;ENSG00000175322:ENST00000587419:exon1:c.A1G:p.M1V;ENSG00000175322:ENST00000589498:exon1:c.A1G:p.M1V;	2.05603103834123E-4	0.002
18	14132276	T	G	18	14132277	y	y	exonic	ZNF519	nonsynonymous SNV	ZNF519:NM_145287:exon1:c.A1C:p.M1L;	exonic	ENSG00000175322	nonsynonymous SNV	ENSG00000175322:ENST00000590202:exon1:c.A1C:p.M1L;ENSG00000175322:ENST00000587419:exon1:c.A1C:p.M1L;ENSG00000175322:ENST00000589498:exon1:c.A1C:p.M1L;	2.84327872285282E-4	0.0
18	14511991	A	C	18	14511992	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon11:c.T1535G:p.L512R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon11:c.T1535G:p.L512R;	4.36620256889294E-5	0.034
18	14511991	A	G	18	14511992	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon11:c.T1535C:p.L512P;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon11:c.T1535C:p.L512P;	1.03923764470159E-4	0.064
18	14511991	A	T	18	14511992	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon11:c.T1535A:p.L512H;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon11:c.T1535A:p.L512H;	2.45289064345955E-4	0.02
18	14511992	G	A	18	14511993	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon11:c.C1534T:p.L512F;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon11:c.C1534T:p.L512F;	2.6626281767942E-5	0.058
18	14511992	G	C	18	14511993	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon11:c.C1534G:p.L512V;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon11:c.C1534G:p.L512V;	1.06519962538614E-4	0.1
18	14511992	G	T	18	14511993	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon11:c.C1534A:p.L512I;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon11:c.C1534A:p.L512I;	4.65182988084118E-5	0.036
18	14511993	C	A	18	14511994	y	y	splicing	POTEC(NM_001137671:exon12:c.1534-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon11:c.1463-1G>T;ENST00000358970:exon12:c.1534-1G>T)	.	.	0.99996947969426	0.672
18	14511993	C	G	18	14511994	y	y	splicing	POTEC(NM_001137671:exon12:c.1534-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon11:c.1463-1G>C;ENST00000358970:exon12:c.1534-1G>C)	.	.	0.99996947969426	0.656
18	14511993	C	T	18	14511994	y	y	splicing	POTEC(NM_001137671:exon12:c.1534-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon11:c.1463-1G>A;ENST00000358970:exon12:c.1534-1G>A)	.	.	0.99996947969426	0.672
18	14511994	T	A	18	14511995	y	y	splicing	POTEC(NM_001137671:exon12:c.1534-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon11:c.1463-2A>T;ENST00000358970:exon12:c.1534-2A>T)	.	.	0.99824944219034	0.434
18	14511994	T	C	18	14511995	y	y	splicing	POTEC(NM_001137671:exon12:c.1534-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon11:c.1463-2A>G;ENST00000358970:exon12:c.1534-2A>G)	.	.	0.99824944219034	0.404
18	14511994	T	G	18	14511995	y	y	splicing	POTEC(NM_001137671:exon12:c.1534-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon11:c.1463-2A>C;ENST00000358970:exon12:c.1534-2A>C)	.	.	0.99824944219034	0.404
18	14511995	A	C	18	14511996	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998236363745425	0.712
18	14511995	A	G	18	14511996	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.23301775388062E-5	0.036
18	14511995	A	T	18	14511996	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.272779912498684	0.374
18	14511996	A	C	18	14511997	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.72944150790222E-5	0.006
18	14511996	A	G	18	14511997	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.18254870764958E-5	0.004
18	14511996	A	T	18	14511997	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.20273919094687E-5	0.008
18	14511997	G	A	18	14511998	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.55726337411937E-5	0.026
18	14511997	G	C	18	14511998	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999885345837852	0.782
18	14511997	G	T	18	14511998	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.39159623617369E-4	0.086
18	14511998	T	A	18	14511999	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.98722559844896E-5	0.01
18	14511998	T	C	18	14511999	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.35045538498603E-5	0.032
18	14511998	T	G	18	14511999	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.01809149453592E-5	0.086
18	14511999	A	C	18	14512000	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0194398885791544	0.22
18	14511999	A	G	18	14512000	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.49554839974363E-5	0.006
18	14511999	A	T	18	14512000	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.845097418387163	0.604
18	14512000	A	C	18	14512001	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.24651019841744E-4	0.232
18	14512000	A	G	18	14512001	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.52853693238125E-5	0.006
18	14512000	A	T	18	14512001	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.070122890824856	0.286
18	14512001	A	C	18	14512002	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.582199081792176	0.568
18	14512001	A	G	18	14512002	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.03201309711749E-5	0.006
18	14512001	A	T	18	14512002	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.23660637705107	0.412
18	14512002	C	A	18	14512003	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.14212609233906E-6	0.0
18	14512002	C	G	18	14512003	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.18595393195438E-6	0.004
18	14512002	C	T	18	14512003	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.36315579698383E-4	0.136
18	14512003	A	C	18	14512004	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.759549920362651	0.56
18	14512003	A	G	18	14512004	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00127695870786431	0.22
18	14512003	A	T	18	14512004	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.99990011964125	0.908
18	14512004	A	C	18	14512005	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0102070100691095	0.392
18	14512004	A	G	18	14512005	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.72826960311787E-5	0.012
18	14512004	A	T	18	14512005	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0642438401943456	0.408
18	14513653	G	A	18	14513654	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.27731155247528E-5	0.01
18	14513653	G	C	18	14513654	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.54168009667105E-5	0.032
18	14513653	G	T	18	14513654	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.85821398668395E-5	0.01
18	14513654	A	C	18	14513655	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.83379760577563E-5	0.018
18	14513654	A	G	18	14513655	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.83379760577563E-5	0.018
18	14513654	A	T	18	14513655	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.83379760577563E-5	0.02
18	14513655	A	C	18	14513656	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.79122690878206E-4	0.156
18	14513655	A	G	18	14513656	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0123427476463935	0.33
18	14513655	A	T	18	14513656	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.73765004975841E-4	0.178
18	14513656	A	C	18	14513657	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.91478027293391E-4	0.084
18	14513656	A	G	18	14513657	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.76855530207069E-5	0.002
18	14513656	A	T	18	14513657	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.3976239029426E-5	0.014
18	14513657	A	C	18	14513658	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.10598023390396E-4	0.054
18	14513657	A	G	18	14513658	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.82529911503163E-5	0.042
18	14513657	A	T	18	14513658	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.92077425034155E-5	0.122
18	14513658	T	A	18	14513659	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.99768762652605	0.762
18	14513658	T	C	18	14513659	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.997479915271152	0.672
18	14513658	T	G	18	14513659	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999033002051362	0.754
18	14513659	A	C	18	14513660	y	y	splicing	POTEC(NM_001137671:exon11:c.1533+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1462+2T>G;ENST00000358970:exon11:c.1533+2T>G)	.	.	0.999933297680006	0.672
18	14513659	A	G	18	14513660	y	y	splicing	POTEC(NM_001137671:exon11:c.1533+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1462+2T>C;ENST00000358970:exon11:c.1533+2T>C)	.	.	0.492440738588379	0.452
18	14513659	A	T	18	14513660	y	y	splicing	POTEC(NM_001137671:exon11:c.1533+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1462+2T>A;ENST00000358970:exon11:c.1533+2T>A)	.	.	0.999933297680006	0.744
18	14513660	C	A	18	14513661	y	y	splicing	POTEC(NM_001137671:exon11:c.1533+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1462+1G>T;ENST00000358970:exon11:c.1533+1G>T)	.	.	0.996977344499637	0.47
18	14513660	C	G	18	14513661	y	y	splicing	POTEC(NM_001137671:exon11:c.1533+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1462+1G>C;ENST00000358970:exon11:c.1533+1G>C)	.	.	0.996977344499637	0.442
18	14513660	C	T	18	14513661	y	y	splicing	POTEC(NM_001137671:exon11:c.1533+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1462+1G>A;ENST00000358970:exon11:c.1533+1G>A)	.	.	0.996977344499637	0.47
18	14513661	C	A	18	14513662	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.G1533T:p.E511D;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.G1533T:p.E511D;	0.999977405215798	0.902
18	14513661	C	G	18	14513662	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.G1533C:p.E511D;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.G1533C:p.E511D;	0.999969793147306	0.884
18	14513661	C	T	18	14513662	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon10:c.G1533A:p.E511E;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.G1533A:p.E511E;	0.999956680958987	0.888
18	14513662	T	A	18	14513663	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1532T:p.E511V;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.A1532T:p.E511V;	0.994449373884219	0.894
18	14513662	T	C	18	14513663	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1532G:p.E511G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.A1532G:p.E511G;	0.995715822067881	0.874
18	14513662	T	G	18	14513663	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1532C:p.E511A;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.A1532C:p.E511A;	0.891821655753515	0.806
18	14513663	C	A	18	14513664	y	y	exonic	POTEC	stopgain SNV	POTEC:NM_001137671:exon10:c.G1531T:p.E511X;	exonic	ENSG00000183206	stopgain SNV	ENSG00000183206:ENST00000358970:exon10:c.G1531T:p.E511X;	0.0331806187791939	0.134
18	14513663	C	G	18	14513664	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.G1531C:p.E511Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.G1531C:p.E511Q;	1.89002725037589E-5	0.012
18	14513663	C	T	18	14513664	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.G1531A:p.E511K;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.G1531A:p.E511K;	6.14439072455707E-5	0.006
18	14513783	C	A	18	14513784	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.G1411T:p.D471Y;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.G1411T:p.D471Y;	1.07519197045333E-4	0.004
18	14513783	C	G	18	14513784	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.G1411C:p.D471H;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.G1411C:p.D471H;	8.2694905048866E-5	0.048
18	14513783	C	T	18	14513784	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.G1411A:p.D471N;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.G1411A:p.D471N;	1.82744367124017E-4	0.024
18	14513784	A	C	18	14513785	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.T1410G:p.S470R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.T1410G:p.S470R;	2.28160728347113E-4	0.142
18	14513784	A	G	18	14513785	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon10:c.T1410C:p.S470S;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.T1410C:p.S470S;	1.1797201043206E-4	0.104
18	14513784	A	T	18	14513785	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.T1410A:p.S470R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon10:c.T1410A:p.S470R;	1.8057248762903E-5	0.058
18	14513785	C	A	18	14513786	y	y	splicing	POTEC(NM_001137671:exon11:c.1410-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1339-1G>T;ENST00000358970:exon11:c.1410-1G>T)	.	.	0.999052800283262	0.478
18	14513785	C	G	18	14513786	y	y	splicing	POTEC(NM_001137671:exon11:c.1410-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1339-1G>C;ENST00000358970:exon11:c.1410-1G>C)	.	.	0.999052800283262	0.478
18	14513785	C	T	18	14513786	y	y	splicing	POTEC(NM_001137671:exon11:c.1410-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1339-1G>A;ENST00000358970:exon11:c.1410-1G>A)	.	.	0.999295068237564	0.478
18	14513786	T	A	18	14513787	y	y	splicing	POTEC(NM_001137671:exon11:c.1410-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1339-2A>T;ENST00000358970:exon11:c.1410-2A>T)	.	.	0.999625120151861	0.56
18	14513786	T	C	18	14513787	y	y	splicing	POTEC(NM_001137671:exon11:c.1410-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1339-2A>G;ENST00000358970:exon11:c.1410-2A>G)	.	.	0.999625120151861	0.558
18	14513786	T	G	18	14513787	y	y	splicing	POTEC(NM_001137671:exon11:c.1410-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon10:c.1339-2A>C;ENST00000358970:exon11:c.1410-2A>C)	.	.	0.999625120151861	0.56
18	14513787	A	C	18	14513788	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.267910857848128	0.526
18	14513787	A	G	18	14513788	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.68170567295105E-5	0.06
18	14513787	A	T	18	14513788	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.029354138606103	0.288
18	14513788	G	A	18	14513789	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.88091865224868E-5	0.14
18	14513788	G	C	18	14513789	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.35256267320868E-4	0.262
18	14513788	G	T	18	14513789	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.23947647174097E-4	0.312
18	14513789	A	C	18	14513790	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.850604105698836	0.556
18	14513789	A	G	18	14513790	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00186986231951617	0.306
18	14513789	A	T	18	14513790	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.786096203454127	0.544
18	14513790	A	C	18	14513791	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.678482570778767	0.582
18	14513790	A	G	18	14513791	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.53383374421502E-4	0.088
18	14513790	A	T	18	14513791	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.52106099792822	0.562
18	14513791	G	A	18	14513792	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.07108965775485E-6	0.008
18	14513791	G	C	18	14513792	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.42685468148002E-4	0.14
18	14513791	G	T	18	14513792	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.6806247153889E-4	0.092
18	14513792	A	C	18	14513793	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0600772362804691	0.486
18	14513792	A	G	18	14513793	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.44707480486585E-5	0.03
18	14513792	A	T	18	14513793	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0556087970159991	0.458
18	14513793	A	C	18	14513794	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00499248603941252	0.308
18	14513793	A	G	18	14513794	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.19947685333318E-5	0.032
18	14513793	A	T	18	14513794	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00929250788597466	0.41
18	14513794	A	C	18	14513795	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998988593991307	0.932
18	14513794	A	G	18	14513795	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.13588217768397E-4	0.062
18	14513794	A	T	18	14513795	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.537455887640541	0.54
18	14513795	T	A	18	14513796	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.28777488984625E-5	0.066
18	14513795	T	C	18	14513796	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.994250301383998	0.942
18	14513795	T	G	18	14513796	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.37977426630093E-5	0.002
18	14513796	T	A	18	14513797	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.91473310409766E-5	0.03
18	14513796	T	C	18	14513797	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.997403023039986	0.978
18	14513796	T	G	18	14513797	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.33030096606792E-5	0.012
18	14522245	A	C	18	14522246	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.52706805797628E-5	0.0
18	14522245	A	G	18	14522246	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.1419591904422E-5	0.002
18	14522245	A	T	18	14522246	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.52706805797628E-5	0.0
18	14522246	G	A	18	14522247	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.61838133422428E-5	0.036
18	14522246	G	C	18	14522247	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.94410347339635E-5	0.038
18	14522246	G	T	18	14522247	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.13356049673207E-5	0.036
18	14522247	G	A	18	14522248	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.61217826230503E-5	0.004
18	14522247	G	C	18	14522248	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.63794699374902E-5	0.054
18	14522247	G	T	18	14522248	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.82457373270907E-5	0.004
18	14522248	C	A	18	14522249	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.75236667673449	0.41
18	14522248	C	G	18	14522249	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.390795789708928	0.484
18	14522248	C	T	18	14522249	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.768916649253901	0.492
18	14522249	T	A	18	14522250	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.312159668724196	0.466
18	14522249	T	C	18	14522250	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.176567101062061	0.466
18	14522249	T	G	18	14522250	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.174544020897952	0.412
18	14522250	T	A	18	14522251	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.954486620852979	0.63
18	14522250	T	C	18	14522251	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00287330754893556	0.112
18	14522250	T	G	18	14522251	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.817095686090228	0.638
18	14522251	A	C	18	14522252	y	y	splicing	POTEC(NM_001137671:exon10:c.1409+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1338+2T>G;ENST00000358970:exon10:c.1409+2T>G)	.	.	0.99996947969426	0.766
18	14522251	A	G	18	14522252	y	y	splicing	POTEC(NM_001137671:exon10:c.1409+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1338+2T>C;ENST00000358970:exon10:c.1409+2T>C)	.	.	0.94768146540498	0.458
18	14522251	A	T	18	14522252	y	y	splicing	POTEC(NM_001137671:exon10:c.1409+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1338+2T>A;ENST00000358970:exon10:c.1409+2T>A)	.	.	0.99996947969426	0.774
18	14522252	C	A	18	14522253	y	y	splicing	POTEC(NM_001137671:exon10:c.1409+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1338+1G>T;ENST00000358970:exon10:c.1409+1G>T)	.	.	0.99996947969426	0.732
18	14522252	C	G	18	14522253	y	y	splicing	POTEC(NM_001137671:exon10:c.1409+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1338+1G>C;ENST00000358970:exon10:c.1409+1G>C)	.	.	0.99996947969426	0.754
18	14522252	C	T	18	14522253	y	y	splicing	POTEC(NM_001137671:exon10:c.1409+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1338+1G>A;ENST00000358970:exon10:c.1409+1G>A)	.	.	0.99996947969426	0.76
18	14522253	C	A	18	14522254	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.G1409T:p.S470I;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.G1409T:p.S470I;	0.991047674082349	0.718
18	14522253	C	G	18	14522254	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.G1409C:p.S470T;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.G1409C:p.S470T;	0.972373736830382	0.628
18	14522253	C	T	18	14522254	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.G1409A:p.S470N;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.G1409A:p.S470N;	0.726460453275764	0.576
18	14522254	T	A	18	14522255	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.A1408T:p.S470C;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.A1408T:p.S470C;	0.181100184221738	0.358
18	14522254	T	C	18	14522255	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.A1408G:p.S470G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.A1408G:p.S470G;	0.0674341447370401	0.346
18	14522254	T	G	18	14522255	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.A1408C:p.S470R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.A1408C:p.S470R;	0.0688859973648776	0.482
18	14522255	G	A	18	14522256	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon9:c.C1407T:p.H469H;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.C1407T:p.H469H;	1.9704344943106E-4	0.05
18	14522255	G	C	18	14522256	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.C1407G:p.H469Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.C1407G:p.H469Q;	1.11573405314379E-4	0.002
18	14522255	G	T	18	14522256	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.C1407A:p.H469Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.C1407A:p.H469Q;	7.82458090714536E-5	0.012
18	14522418	A	C	18	14522419	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.T1244G:p.V415G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.T1244G:p.V415G;	0.00320245909355671	0.036
18	14522418	A	G	18	14522419	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.T1244C:p.V415A;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.T1244C:p.V415A;	0.00454167969196769	0.044
18	14522418	A	T	18	14522419	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.T1244A:p.V415D;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.T1244A:p.V415D;	9.50710966296023E-4	0.064
18	14522419	C	A	18	14522420	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.G1243T:p.V415F;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.G1243T:p.V415F;	0.940920331290486	0.586
18	14522419	C	G	18	14522420	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.G1243C:p.V415L;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.G1243C:p.V415L;	0.624471836984044	0.45
18	14522419	C	T	18	14522420	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon9:c.G1243A:p.V415I;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon9:c.G1243A:p.V415I;	0.13117338702182	0.308
18	14522420	C	A	18	14522421	y	y	splicing	POTEC(NM_001137671:exon10:c.1243-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1172-1G>T;ENST00000358970:exon10:c.1243-1G>T)	.	.	0.999939386366563	0.756
18	14522420	C	G	18	14522421	y	y	splicing	POTEC(NM_001137671:exon10:c.1243-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1172-1G>C;ENST00000358970:exon10:c.1243-1G>C)	.	.	0.999939386366563	0.754
18	14522420	C	T	18	14522421	y	y	splicing	POTEC(NM_001137671:exon10:c.1243-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1172-1G>A;ENST00000358970:exon10:c.1243-1G>A)	.	.	0.999939386366563	0.758
18	14522421	T	A	18	14522422	y	y	splicing	POTEC(NM_001137671:exon10:c.1243-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1172-2A>T;ENST00000358970:exon10:c.1243-2A>T)	.	.	0.999906864485067	0.838
18	14522421	T	C	18	14522422	y	y	splicing	POTEC(NM_001137671:exon10:c.1243-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1172-2A>G;ENST00000358970:exon10:c.1243-2A>G)	.	.	0.999906864485067	0.802
18	14522421	T	G	18	14522422	y	y	splicing	POTEC(NM_001137671:exon10:c.1243-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon9:c.1172-2A>C;ENST00000358970:exon10:c.1243-2A>C)	.	.	0.999906864485067	0.802
18	14522422	T	A	18	14522423	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.61220896790224E-5	0.014
18	14522422	T	C	18	14522423	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00302004167167961	0.086
18	14522422	T	G	18	14522423	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.82831240847475E-4	0.088
18	14522423	G	A	18	14522424	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.24297958656235E-5	0.002
18	14522423	G	C	18	14522424	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.34917947664666E-5	0.0
18	14522423	G	T	18	14522424	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.40071927854497E-6	0.004
18	14522424	A	C	18	14522425	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.947743724542532	0.542
18	14522424	A	G	18	14522425	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0025873256825707	0.042
18	14522424	A	T	18	14522425	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.947743724542532	0.59
18	14522425	G	A	18	14522426	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.09578379736362E-4	0.038
18	14522425	G	C	18	14522426	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999784889243809	0.91
18	14522425	G	T	18	14522426	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00510216909923961	0.188
18	14522426	T	A	18	14522427	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.51115285279956E-4	0.02
18	14522426	T	C	18	14522427	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.67960848330406E-4	0.006
18	14522426	T	G	18	14522427	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.51115285279956E-4	0.01
18	14522427	G	A	18	14522428	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.04767595615953E-5	0.002
18	14522427	G	C	18	14522428	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0130271679101042	0.094
18	14522427	G	T	18	14522428	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00537143024212879	0.078
18	14522428	G	A	18	14522429	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.4292371805838E-5	0.0
18	14522428	G	C	18	14522429	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00202993327835702	0.032
18	14522428	G	T	18	14522429	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00132264245691766	0.026
18	14522429	A	C	18	14522430	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.988337556296387	0.748
18	14522429	A	G	18	14522430	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00497274915526835	0.082
18	14522429	A	T	18	14522430	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.955481602101147	0.712
18	14522430	A	C	18	14522431	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.940620638512252	0.67
18	14522430	A	G	18	14522431	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0488142323762305	0.242
18	14522430	A	T	18	14522431	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.950788146941673	0.718
18	14522431	G	A	18	14522432	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.85598538746983E-5	0.0
18	14522431	G	C	18	14522432	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999879442924049	0.93
18	14522431	G	T	18	14522432	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00180698877916929	0.034
18	14523454	A	C	18	14523455	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.65021368045752E-6	0.008
18	14523454	A	G	18	14523455	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.47547830279538E-5	0.002
18	14523454	A	T	18	14523455	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.14979214432963E-5	0.0
18	14523455	G	A	18	14523456	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.03330733498681E-4	0.01
18	14523455	G	C	18	14523456	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.17246496461593E-5	0.0
18	14523455	G	T	18	14523456	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.53929084429736E-6	0.0
18	14523456	G	A	18	14523457	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.68680654676524E-6	0.012
18	14523456	G	C	18	14523457	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.29931182963663E-5	0.078
18	14523456	G	T	18	14523457	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.43203782059868E-5	0.014
18	14523457	T	A	18	14523458	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.22291985214458E-5	0.004
18	14523457	T	C	18	14523458	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.49962397913302E-4	0.116
18	14523457	T	G	18	14523458	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.71225543913161E-5	0.01
18	14523458	A	C	18	14523459	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.40133231913986E-5	0.036
18	14523458	A	G	18	14523459	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.72811593007137E-5	0.016
18	14523458	A	T	18	14523459	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.05370928927084E-5	0.094
18	14523459	T	A	18	14523460	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998919400686965	0.642
18	14523459	T	C	18	14523460	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.974574409861576	0.6
18	14523459	T	G	18	14523460	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998919400686965	0.624
18	14523460	A	C	18	14523461	y	y	splicing	POTEC(NM_001137671:exon9:c.1242+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1171+2T>G;ENST00000358970:exon9:c.1242+2T>G)	.	.	0.999777781896397	0.54
18	14523460	A	G	18	14523461	y	y	splicing	POTEC(NM_001137671:exon9:c.1242+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1171+2T>C;ENST00000358970:exon9:c.1242+2T>C)	.	.	0.308173775943086	0.422
18	14523460	A	T	18	14523461	y	y	splicing	POTEC(NM_001137671:exon9:c.1242+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1171+2T>A;ENST00000358970:exon9:c.1242+2T>A)	.	.	0.999777781896397	0.518
18	14523461	C	A	18	14523462	y	y	splicing	POTEC(NM_001137671:exon9:c.1242+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1171+1G>T;ENST00000358970:exon9:c.1242+1G>T)	.	.	0.999933297680006	0.62
18	14523461	C	G	18	14523462	y	y	splicing	POTEC(NM_001137671:exon9:c.1242+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1171+1G>C;ENST00000358970:exon9:c.1242+1G>C)	.	.	0.999933297680006	0.62
18	14523461	C	T	18	14523462	y	y	splicing	POTEC(NM_001137671:exon9:c.1242+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1171+1G>A;ENST00000358970:exon9:c.1242+1G>A)	.	.	0.999933297680006	0.616
18	14523462	C	A	18	14523463	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.G1242T:p.E414D;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.G1242T:p.E414D;	0.999977405215798	0.876
18	14523462	C	G	18	14523463	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.G1242C:p.E414D;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.G1242C:p.E414D;	0.99998107278761	0.868
18	14523462	C	T	18	14523463	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon8:c.G1242A:p.E414E;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.G1242A:p.E414E;	0.999978729672192	0.812
18	14523463	T	A	18	14523464	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.A1241T:p.E414V;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.A1241T:p.E414V;	0.996671040445294	0.77
18	14523463	T	C	18	14523464	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.A1241G:p.E414G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.A1241G:p.E414G;	0.997528289020518	0.868
18	14523463	T	G	18	14523464	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.A1241C:p.E414A;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.A1241C:p.E414A;	0.967045703276762	0.786
18	14523464	C	A	18	14523465	y	y	exonic	POTEC	stopgain SNV	POTEC:NM_001137671:exon8:c.G1240T:p.E414X;	exonic	ENSG00000183206	stopgain SNV	ENSG00000183206:ENST00000358970:exon8:c.G1240T:p.E414X;	0.00635614608008497	0.132
18	14523464	C	G	18	14523465	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.G1240C:p.E414Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.G1240C:p.E414Q;	7.14563847606276E-5	0.214
18	14523464	C	T	18	14523465	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.G1240A:p.E414K;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.G1240A:p.E414K;	2.87865341617708E-5	0.09
18	14523505	T	A	18	14523506	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.A1199T:p.K400I;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.A1199T:p.K400I;ENSG00000183206:ENST00000511306:exon7:c.A1128T:p.E376D;	6.42017883996136E-5	0.082
18	14523505	T	C	18	14523506	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.A1199G:p.K400R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.A1199G:p.K400R;	8.56089941775635E-5	0.106
18	14523505	T	G	18	14523506	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.A1199C:p.K400T;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.A1199C:p.K400T;ENSG00000183206:ENST00000511306:exon7:c.A1128C:p.E376D;	1.06033143752865E-4	0.114
18	14523506	T	A	18	14523507	y	y	exonic	POTEC	stopgain SNV	POTEC:NM_001137671:exon8:c.A1198T:p.K400X;	exonic	ENSG00000183206	stopgain SNV	ENSG00000183206:ENST00000358970:exon8:c.A1198T:p.K400X;	0.00161478596047795	0.046
18	14523506	T	C	18	14523507	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.A1198G:p.K400E;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.A1198G:p.K400E;ENSG00000183206:ENST00000511306:exon7:c.A1127G:p.E376G;	1.58645906776164E-5	0.0
18	14523506	T	G	18	14523507	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon8:c.A1198C:p.K400Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon8:c.A1198C:p.K400Q;ENSG00000183206:ENST00000511306:exon7:c.A1127C:p.E376A;	2.71674940321236E-4	0.028
18	14523507	C	A	18	14523508	y	y	splicing	POTEC(NM_001137671:exon9:c.1198-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1127-1G>T;ENST00000358970:exon9:c.1198-1G>T)	.	.	0.99993210896249	0.518
18	14523507	C	G	18	14523508	y	y	splicing	POTEC(NM_001137671:exon9:c.1198-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1127-1G>C;ENST00000358970:exon9:c.1198-1G>C)	.	.	0.99993210896249	0.518
18	14523507	C	T	18	14523508	y	y	splicing	POTEC(NM_001137671:exon9:c.1198-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1127-1G>A;ENST00000358970:exon9:c.1198-1G>A)	.	.	0.999907081422768	0.518
18	14523508	T	A	18	14523509	y	y	splicing	POTEC(NM_001137671:exon9:c.1198-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1127-2A>T;ENST00000358970:exon9:c.1198-2A>T)	.	.	0.999905446959479	0.442
18	14523508	T	C	18	14523509	y	y	splicing	POTEC(NM_001137671:exon9:c.1198-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1127-2A>G;ENST00000358970:exon9:c.1198-2A>G)	.	.	0.999905446959479	0.442
18	14523508	T	G	18	14523509	y	y	splicing	POTEC(NM_001137671:exon9:c.1198-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon8:c.1127-2A>C;ENST00000358970:exon9:c.1198-2A>C)	.	.	0.999905446959479	0.442
18	14523509	G	A	18	14523510	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.66469324344232E-4	0.04
18	14523509	G	C	18	14523510	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998865717390974	0.732
18	14523509	G	T	18	14523510	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.687322995863295	0.386
18	14523510	C	A	18	14523511	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.43650365824141E-5	0.026
18	14523510	C	G	18	14523511	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.1963942233394E-4	0.21
18	14523510	C	T	18	14523511	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.81598842826257E-5	0.04
18	14523511	A	C	18	14523512	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.693893109918788	0.386
18	14523511	A	G	18	14523512	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.73995057312907E-5	0.132
18	14523511	A	T	18	14523512	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999183070019945	0.746
18	14523512	G	A	18	14523513	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.90838112852375E-5	0.022
18	14523512	G	C	18	14523513	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.44821702598589E-4	0.156
18	14523512	G	T	18	14523513	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00160130876509409	0.19
18	14523513	A	C	18	14523514	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999588971901363	0.71
18	14523513	A	G	18	14523514	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.96486045854193E-4	0.152
18	14523513	A	T	18	14523514	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.109407598476567	0.288
18	14523514	T	A	18	14523515	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.24976524711538E-5	0.124
18	14523514	T	C	18	14523515	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.16122358393969E-5	0.082
18	14523514	T	G	18	14523515	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.12957535964363E-5	0.15
18	14523515	G	A	18	14523516	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.26042566108309E-5	0.136
18	14523515	G	C	18	14523516	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00156804320068963	0.262
18	14523515	G	T	18	14523516	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.27550783892798E-4	0.064
18	14523516	C	A	18	14523517	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.5112868286508E-5	0.126
18	14523516	C	G	18	14523517	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.63968018958771E-5	0.154
18	14523516	C	T	18	14523517	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.22449992507836E-5	0.228
18	14523517	A	C	18	14523518	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.184325541487069	0.482
18	14523517	A	G	18	14523518	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.64133506557554E-4	0.124
18	14523517	A	T	18	14523518	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999836250781179	0.768
18	14523518	A	C	18	14523519	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0190134362624351	0.374
18	14523518	A	G	18	14523519	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.12463612383498E-4	0.084
18	14523518	A	T	18	14523519	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00495732508544072	0.358
18	14524981	T	A	18	14524982	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon7:c.A1128T:p.E376D;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon7:c.A1128T:p.E376D;	1.57464259741486E-4	0.002
18	14524981	T	C	18	14524982	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon7:c.A1128G:p.E376E;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon7:c.A1128G:p.E376E;	4.79259191355019E-5	0.028
18	14524981	T	G	18	14524982	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon7:c.A1128C:p.E376D;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon7:c.A1128C:p.E376D;	1.36373315178112E-4	0.01
18	14524982	T	A	18	14524983	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon7:c.A1127T:p.E376V;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon7:c.A1127T:p.E376V;	0.00697487472707165	0.136
18	14524982	T	C	18	14524983	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon7:c.A1127G:p.E376G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon7:c.A1127G:p.E376G;	6.38356387903838E-5	0.0
18	14524982	T	G	18	14524983	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon7:c.A1127C:p.E376A;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon7:c.A1127C:p.E376A;	0.00346951048456299	0.138
18	14524983	C	A	18	14524984	y	y	splicing	POTEC(NM_001137671:exon8:c.1127-1G>T)	.	.	splicing	ENSG00000183206(ENST00000358970:exon8:c.1127-1G>T)	.	.	0.999918350337376	0.784
18	14524983	C	G	18	14524984	y	y	splicing	POTEC(NM_001137671:exon8:c.1127-1G>C)	.	.	splicing	ENSG00000183206(ENST00000358970:exon8:c.1127-1G>C)	.	.	0.999918350337376	0.786
18	14524983	C	T	18	14524984	y	y	splicing	POTEC(NM_001137671:exon8:c.1127-1G>A)	.	.	splicing	ENSG00000183206(ENST00000358970:exon8:c.1127-1G>A)	.	.	0.999918350337376	0.788
18	14524984	T	A	18	14524985	y	y	splicing	POTEC(NM_001137671:exon8:c.1127-2A>T)	.	.	splicing	ENSG00000183206(ENST00000358970:exon8:c.1127-2A>T)	.	.	0.999971420452306	0.66
18	14524984	T	C	18	14524985	y	y	splicing	POTEC(NM_001137671:exon8:c.1127-2A>G)	.	.	splicing	ENSG00000183206(ENST00000358970:exon8:c.1127-2A>G)	.	.	0.999971420452306	0.626
18	14524984	T	G	18	14524985	y	y	splicing	POTEC(NM_001137671:exon8:c.1127-2A>C)	.	.	splicing	ENSG00000183206(ENST00000358970:exon8:c.1127-2A>C)	.	.	0.999971420452306	0.632
18	14524985	G	A	18	14524986	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00441890953258096	0.17
18	14524985	G	C	18	14524986	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.997647379719106	0.734
18	14524985	G	T	18	14524986	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.937832041270028	0.74
18	14524986	T	A	18	14524987	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.69686845469476E-4	0.016
18	14524986	T	C	18	14524987	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.963533433900398	0.814
18	14524986	T	G	18	14524987	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.77551553878633E-5	0.004
18	14524987	T	A	18	14524988	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.4306100149313E-5	0.02
18	14524987	T	C	18	14524988	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.68418340975379E-5	0.004
18	14524987	T	G	18	14524988	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.77146280764601E-5	0.0
18	14524988	G	A	18	14524989	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.88334127684838E-5	0.016
18	14524988	G	C	18	14524989	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0716714147991634	0.398
18	14524988	G	T	18	14524989	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0337803284727985	0.318
18	14524989	A	C	18	14524990	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.208743718483953	0.412
18	14524989	A	G	18	14524990	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.82140151116416E-5	0.01
18	14524989	A	T	18	14524990	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.554510382881319	0.556
18	14524990	G	A	18	14524991	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.10435897099766E-5	0.0
18	14524990	G	C	18	14524991	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.91253204455063E-4	0.062
18	14524990	G	T	18	14524991	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.35505114802619E-4	0.066
18	14524991	A	C	18	14524992	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0608781063952825	0.386
18	14524991	A	G	18	14524992	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00159512812413127	0.172
18	14524991	A	T	18	14524992	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.631604101763155	0.588
18	14524992	A	C	18	14524993	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0640033715941256	0.448
18	14524992	A	G	18	14524993	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.5454869510519E-4	0.042
18	14524992	A	T	18	14524993	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.659007703634774	0.534
18	14524993	A	C	18	14524994	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999924600559565	0.946
18	14524993	A	G	18	14524994	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0032319407499776	0.234
18	14524993	A	T	18	14524994	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.475203879525573	0.528
18	14524994	T	A	18	14524995	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.03581082016161E-4	0.004
18	14524994	T	C	18	14524995	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.6006934845932E-5	0.004
18	14524994	T	G	18	14524995	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.11269650073925E-5	0.0
18	14530474	A	C	18	14530475	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.83935518155002E-5	0.0
18	14530474	A	G	18	14530475	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.12330973617793E-5	0.002
18	14530474	A	T	18	14530475	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.7395485643605E-5	0.002
18	14530475	G	A	18	14530476	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.79405309763041E-5	0.0
18	14530475	G	C	18	14530476	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.43553880349476E-5	0.0
18	14530475	G	T	18	14530476	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.54502558698608E-6	0.0
18	14530476	T	A	18	14530477	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.50881956849551E-5	0.006
18	14530476	T	C	18	14530477	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.33742784601016E-5	0.0
18	14530476	T	G	18	14530477	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.45549944603055E-5	0.016
18	14530477	C	A	18	14530478	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.916979735581998	0.524
18	14530477	C	G	18	14530478	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.769285562504251	0.524
18	14530477	C	T	18	14530478	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.910830004076201	0.562
18	14530478	T	A	18	14530479	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0421215829259881	0.384
18	14530478	T	C	18	14530479	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0461449808261397	0.404
18	14530478	T	G	18	14530479	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.023590996413239	0.366
18	14530479	T	A	18	14530480	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.958959618192188	0.63
18	14530479	T	C	18	14530480	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0043034195652869	0.13
18	14530479	T	G	18	14530480	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.794734493980777	0.608
18	14530480	A	C	18	14530481	y	y	splicing	POTEC(NM_001137671:exon7:c.1126+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1126+2T>G;ENST00000358970:exon7:c.1126+2T>G)	.	.	0.99996947969426	0.764
18	14530480	A	G	18	14530481	y	y	splicing	POTEC(NM_001137671:exon7:c.1126+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1126+2T>C;ENST00000358970:exon7:c.1126+2T>C)	.	.	0.94768146540498	0.458
18	14530480	A	T	18	14530481	y	y	splicing	POTEC(NM_001137671:exon7:c.1126+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1126+2T>A;ENST00000358970:exon7:c.1126+2T>A)	.	.	0.99996947969426	0.768
18	14530481	C	A	18	14530482	y	y	splicing	POTEC(NM_001137671:exon7:c.1126+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1126+1G>T;ENST00000358970:exon7:c.1126+1G>T)	.	.	0.999982032508229	0.752
18	14530481	C	G	18	14530482	y	y	splicing	POTEC(NM_001137671:exon7:c.1126+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1126+1G>C;ENST00000358970:exon7:c.1126+1G>C)	.	.	0.999982032508229	0.75
18	14530481	C	T	18	14530482	y	y	splicing	POTEC(NM_001137671:exon7:c.1126+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1126+1G>A;ENST00000358970:exon7:c.1126+1G>A)	.	.	0.999992647284626	0.766
18	14530482	C	A	18	14530483	y	y	exonic	POTEC	stopgain SNV	POTEC:NM_001137671:exon6:c.G1126T:p.E376X;	exonic	ENSG00000183206	stopgain SNV	ENSG00000183206:ENST00000358970:exon6:c.G1126T:p.E376X;ENSG00000183206:ENST00000511306:exon6:c.G1126T:p.E376X;	0.998030512044462	0.914
18	14530482	C	G	18	14530483	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon6:c.G1126C:p.E376Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.G1126C:p.E376Q;ENSG00000183206:ENST00000511306:exon6:c.G1126C:p.E376Q;	0.998618464327599	0.746
18	14530482	C	T	18	14530483	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon6:c.G1126A:p.E376K;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.G1126A:p.E376K;ENSG00000183206:ENST00000511306:exon6:c.G1126A:p.E376K;	0.970795684872827	0.758
18	14530483	T	A	18	14530484	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon6:c.A1125T:p.P375P;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1125T:p.P375P;ENSG00000183206:ENST00000511306:exon6:c.A1125T:p.P375P;	0.00733350903034241	0.26
18	14530483	T	C	18	14530484	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon6:c.A1125G:p.P375P;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1125G:p.P375P;ENSG00000183206:ENST00000511306:exon6:c.A1125G:p.P375P;	0.00756092446923506	0.232
18	14530483	T	G	18	14530484	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon6:c.A1125C:p.P375P;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1125C:p.P375P;ENSG00000183206:ENST00000511306:exon6:c.A1125C:p.P375P;	0.00713452791664051	0.35
18	14530484	G	A	18	14530485	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon6:c.C1124T:p.P375L;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.C1124T:p.P375L;ENSG00000183206:ENST00000511306:exon6:c.C1124T:p.P375L;	0.00185514766563256	0.062
18	14530484	G	C	18	14530485	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon6:c.C1124G:p.P375R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.C1124G:p.P375R;ENSG00000183206:ENST00000511306:exon6:c.C1124G:p.P375R;	2.97367316556231E-4	0.04
18	14530484	G	T	18	14530485	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon6:c.C1124A:p.P375Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.C1124A:p.P375Q;ENSG00000183206:ENST00000511306:exon6:c.C1124A:p.P375Q;	5.26366637870078E-4	0.032
18	14530551	T	A	18	14530552	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon6:c.A1057T:p.I353F;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1057T:p.I353F;ENSG00000183206:ENST00000511306:exon6:c.A1057T:p.I353F;	2.59748871561627E-4	0.024
18	14530551	T	C	18	14530552	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon6:c.A1057G:p.I353V;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1057G:p.I353V;ENSG00000183206:ENST00000511306:exon6:c.A1057G:p.I353V;	7.95348084382578E-4	0.024
18	14530551	T	G	18	14530552	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon6:c.A1057C:p.I353L;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1057C:p.I353L;ENSG00000183206:ENST00000511306:exon6:c.A1057C:p.I353L;	0.00129360324277121	0.034
18	14530552	T	A	18	14530553	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon6:c.A1056T:p.V352V;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1056T:p.V352V;ENSG00000183206:ENST00000511306:exon6:c.A1056T:p.V352V;	8.3481524132698E-4	0.126
18	14530552	T	C	18	14530553	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon6:c.A1056G:p.V352V;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1056G:p.V352V;ENSG00000183206:ENST00000511306:exon6:c.A1056G:p.V352V;	3.17833436526438E-5	0.012
18	14530552	T	G	18	14530553	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon6:c.A1056C:p.V352V;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon6:c.A1056C:p.V352V;ENSG00000183206:ENST00000511306:exon6:c.A1056C:p.V352V;	2.60978650934712E-4	0.084
18	14530553	C	A	18	14530554	y	y	splicing	POTEC(NM_001137671:exon7:c.1056-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1056-1G>T;ENST00000358970:exon7:c.1056-1G>T)	.	.	0.999960731349428	0.77
18	14530553	C	G	18	14530554	y	y	splicing	POTEC(NM_001137671:exon7:c.1056-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1056-1G>C;ENST00000358970:exon7:c.1056-1G>C)	.	.	0.999960731349428	0.76
18	14530553	C	T	18	14530554	y	y	splicing	POTEC(NM_001137671:exon7:c.1056-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1056-1G>A;ENST00000358970:exon7:c.1056-1G>A)	.	.	0.999960731349428	0.772
18	14530554	T	A	18	14530555	y	y	splicing	POTEC(NM_001137671:exon7:c.1056-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1056-2A>T;ENST00000358970:exon7:c.1056-2A>T)	.	.	0.999959202954847	0.694
18	14530554	T	C	18	14530555	y	y	splicing	POTEC(NM_001137671:exon7:c.1056-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1056-2A>G;ENST00000358970:exon7:c.1056-2A>G)	.	.	0.999959202954847	0.674
18	14530554	T	G	18	14530555	y	y	splicing	POTEC(NM_001137671:exon7:c.1056-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon7:c.1056-2A>C;ENST00000358970:exon7:c.1056-2A>C)	.	.	0.999959202954847	0.674
18	14530555	A	C	18	14530556	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.946431786184502	0.634
18	14530555	A	G	18	14530556	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.38874811944881E-5	0.07
18	14530555	A	T	18	14530556	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0559118310729956	0.336
18	14530556	T	A	18	14530557	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.01317090952029E-5	0.0
18	14530556	T	C	18	14530557	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.82376048884073E-5	0.03
18	14530556	T	G	18	14530557	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.37554871303462E-5	0.02
18	14530557	G	A	18	14530558	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.58645906776164E-5	0.0
18	14530557	G	C	18	14530558	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.987330298194739	0.474
18	14530557	G	T	18	14530558	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.28284011912357E-4	0.11
18	14530558	T	A	18	14530559	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.37977426630093E-5	0.008
18	14530558	T	C	18	14530559	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.52278666867399E-5	0.0
18	14530558	T	G	18	14530559	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.07084114251852E-5	0.018
18	14530559	A	C	18	14530560	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999850123828175	0.958
18	14530559	A	G	18	14530560	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.26934151823027E-5	0.012
18	14530559	A	T	18	14530560	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0199275735134763	0.22
18	14530560	T	A	18	14530561	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.83313331502552E-5	0.0
18	14530560	T	C	18	14530561	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.3647443826424E-5	0.0
18	14530560	T	G	18	14530561	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.93573800275838E-5	0.002
18	14530561	A	C	18	14530562	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0250120853453191	0.27
18	14530561	A	G	18	14530562	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.97906001809775E-5	0.024
18	14530561	A	T	18	14530562	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0038943157374751	0.278
18	14530562	A	C	18	14530563	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0295574449216439	0.382
18	14530562	A	G	18	14530563	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00128402476364562	0.05
18	14530562	A	T	18	14530563	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0976301154791309	0.34
18	14530563	A	C	18	14530564	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.249599913485225	0.568
18	14530563	A	G	18	14530564	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.63296876874137E-4	0.088
18	14530563	A	T	18	14530564	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.965589259571924	0.594
18	14530564	A	C	18	14530565	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.102970130384671	0.482
18	14530564	A	G	18	14530565	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.95284164714099E-4	0.056
18	14530564	A	T	18	14530565	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.19481103020841	0.488
18	14533052	A	C	18	14533053	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.0185327851757E-4	0.024
18	14533052	A	G	18	14533053	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.0185327851757E-4	0.024
18	14533052	A	T	18	14533053	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.0185327851757E-4	0.024
18	14533053	C	A	18	14533054	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.02122961453684E-5	0.042
18	14533053	C	G	18	14533054	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.24102823426935E-5	0.05
18	14533053	C	T	18	14533054	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.22529173330352E-5	0.046
18	14533054	A	C	18	14533055	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.450924003416735	0.66
18	14533054	A	G	18	14533055	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.807609845027481	0.628
18	14533054	A	T	18	14533055	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.842024010341842	0.638
18	14533055	C	A	18	14533056	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999981569940521	0.768
18	14533055	C	G	18	14533056	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999986778153886	0.796
18	14533055	C	T	18	14533056	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999985455239782	0.776
18	14533056	T	A	18	14533057	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.990628412067284	0.724
18	14533056	T	C	18	14533057	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999754959719156	0.784
18	14533056	T	G	18	14533057	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.990850138008797	0.62
18	14533057	T	A	18	14533058	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999358632213117	0.782
18	14533057	T	C	18	14533058	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00411157550590627	0.204
18	14533057	T	G	18	14533058	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.99927294613599	0.778
18	14533058	A	C	18	14533059	y	y	splicing	POTEC(NM_001137671:exon6:c.1055+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.1055+2T>G;ENST00000358970:exon6:c.1055+2T>G)	.	.	0.99996947969426	0.654
18	14533058	A	G	18	14533059	y	y	splicing	POTEC(NM_001137671:exon6:c.1055+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.1055+2T>C;ENST00000358970:exon6:c.1055+2T>C)	.	.	0.96827410164976	0.552
18	14533058	A	T	18	14533059	y	y	splicing	POTEC(NM_001137671:exon6:c.1055+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.1055+2T>A;ENST00000358970:exon6:c.1055+2T>A)	.	.	0.99996947969426	0.67
18	14533059	C	A	18	14533060	y	y	splicing	POTEC(NM_001137671:exon6:c.1055+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.1055+1G>T;ENST00000358970:exon6:c.1055+1G>T)	.	.	0.999930862591418	0.536
18	14533059	C	G	18	14533060	y	y	splicing	POTEC(NM_001137671:exon6:c.1055+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.1055+1G>C;ENST00000358970:exon6:c.1055+1G>C)	.	.	0.999930862591418	0.538
18	14533059	C	T	18	14533060	y	y	splicing	POTEC(NM_001137671:exon6:c.1055+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.1055+1G>A;ENST00000358970:exon6:c.1055+1G>A)	.	.	0.999930862591418	0.532
18	14533060	A	C	18	14533061	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.T1055G:p.V352G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.T1055G:p.V352G;ENSG00000183206:ENST00000511306:exon5:c.T1055G:p.V352G;	3.09463462850422E-4	0.174
18	14533060	A	G	18	14533061	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.T1055C:p.V352A;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.T1055C:p.V352A;ENSG00000183206:ENST00000511306:exon5:c.T1055C:p.V352A;	1.89671056147994E-4	0.076
18	14533060	A	T	18	14533061	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.T1055A:p.V352E;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.T1055A:p.V352E;ENSG00000183206:ENST00000511306:exon5:c.T1055A:p.V352E;	8.23900939293169E-5	0.258
18	14533061	C	A	18	14533062	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.G1054T:p.V352L;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.G1054T:p.V352L;ENSG00000183206:ENST00000511306:exon5:c.G1054T:p.V352L;	2.65252536483355E-4	0.0
18	14533061	C	G	18	14533062	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.G1054C:p.V352L;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.G1054C:p.V352L;ENSG00000183206:ENST00000511306:exon5:c.G1054C:p.V352L;	1.62464031174302E-4	0.004
18	14533061	C	T	18	14533062	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.G1054A:p.V352I;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.G1054A:p.V352I;ENSG00000183206:ENST00000511306:exon5:c.G1054A:p.V352I;	5.55124050618206E-4	0.044
18	14533062	A	C	18	14533063	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.T1053G:p.H351Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.T1053G:p.H351Q;ENSG00000183206:ENST00000511306:exon5:c.T1053G:p.H351Q;	2.87818215566119E-5	0.054
18	14533062	A	G	18	14533063	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon5:c.T1053C:p.H351H;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.T1053C:p.H351H;ENSG00000183206:ENST00000511306:exon5:c.T1053C:p.H351H;	4.03138194439358E-5	0.058
18	14533062	A	T	18	14533063	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.T1053A:p.H351Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.T1053A:p.H351Q;ENSG00000183206:ENST00000511306:exon5:c.T1053A:p.H351Q;	2.53810930503047E-5	0.008
18	14533196	T	A	18	14533197	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.A919T:p.T307S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.A919T:p.T307S;ENSG00000183206:ENST00000511306:exon5:c.A919T:p.T307S;	4.97318100842896E-5	0.028
18	14533196	T	C	18	14533197	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.A919G:p.T307A;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.A919G:p.T307A;ENSG00000183206:ENST00000511306:exon5:c.A919G:p.T307A;	7.57089950574794E-5	0.028
18	14533196	T	G	18	14533197	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.A919C:p.T307P;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.A919C:p.T307P;ENSG00000183206:ENST00000511306:exon5:c.A919C:p.T307P;	4.11118091684545E-4	0.008
18	14533197	T	A	18	14533198	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.A918T:p.R306S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.A918T:p.R306S;ENSG00000183206:ENST00000511306:exon5:c.A918T:p.R306S;	0.00418805190559794	0.1
18	14533197	T	C	18	14533198	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon5:c.A918G:p.R306R;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.A918G:p.R306R;ENSG00000183206:ENST00000511306:exon5:c.A918G:p.R306R;	5.24633769133113E-5	0.006
18	14533197	T	G	18	14533198	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.A918C:p.R306S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon5:c.A918C:p.R306S;ENSG00000183206:ENST00000511306:exon5:c.A918C:p.R306S;	7.31644687709047E-4	0.076
18	14533198	C	A	18	14533199	y	y	splicing	POTEC(NM_001137671:exon6:c.918-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.918-1G>T;ENST00000358970:exon6:c.918-1G>T)	.	.	0.9999535374451	0.65
18	14533198	C	G	18	14533199	y	y	splicing	POTEC(NM_001137671:exon6:c.918-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.918-1G>C;ENST00000358970:exon6:c.918-1G>C)	.	.	0.9999535374451	0.648
18	14533198	C	T	18	14533199	y	y	splicing	POTEC(NM_001137671:exon6:c.918-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.918-1G>A;ENST00000358970:exon6:c.918-1G>A)	.	.	0.9999535374451	0.654
18	14533199	T	A	18	14533200	y	y	splicing	POTEC(NM_001137671:exon6:c.918-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.918-2A>T;ENST00000358970:exon6:c.918-2A>T)	.	.	0.99995544148595	0.646
18	14533199	T	C	18	14533200	y	y	splicing	POTEC(NM_001137671:exon6:c.918-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.918-2A>G;ENST00000358970:exon6:c.918-2A>G)	.	.	0.99995544148595	0.64
18	14533199	T	G	18	14533200	y	y	splicing	POTEC(NM_001137671:exon6:c.918-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon6:c.918-2A>C;ENST00000358970:exon6:c.918-2A>C)	.	.	0.99995544148595	0.64
18	14533200	A	C	18	14533201	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.985091466098854	0.666
18	14533200	A	G	18	14533201	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.95720052999957E-4	0.104
18	14533200	A	T	18	14533201	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.127380069995921	0.446
18	14533201	A	C	18	14533202	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.32218752016163E-4	0.068
18	14533201	A	G	18	14533202	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.687976252989E-5	0.06
18	14533201	A	T	18	14533202	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.72151956133693E-4	0.106
18	14533202	A	C	18	14533203	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.936126477368946	0.578
18	14533202	A	G	18	14533203	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00300739436053746	0.24
18	14533202	A	T	18	14533203	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.933437975938159	0.542
18	14533203	A	C	18	14533204	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999803384241195	0.724
18	14533203	A	G	18	14533204	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.48699196845302E-4	0.108
18	14533203	A	T	18	14533204	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0612654929896899	0.346
18	14533204	T	A	18	14533205	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.39479402169498E-5	0.064
18	14533204	T	C	18	14533205	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.993449586395443	0.7
18	14533204	T	G	18	14533205	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.39479402169498E-5	0.066
18	14533205	T	A	18	14533206	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.50842718492841E-5	0.006
18	14533205	T	C	18	14533206	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.15716127204458E-5	0.024
18	14533205	T	G	18	14533206	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.06453814448759E-5	0.018
18	14533206	A	C	18	14533207	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.127021810159935	0.35
18	14533206	A	G	18	14533207	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.59348786638992E-5	0.06
18	14533206	A	T	18	14533207	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00401726854629103	0.33
18	14533207	C	A	18	14533208	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.38382252991527E-5	0.028
18	14533207	C	G	18	14533208	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.06912610060893E-5	0.036
18	14533207	C	T	18	14533208	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.16281215259333E-4	0.028
18	14533208	A	C	18	14533209	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.822976719892488	0.538
18	14533208	A	G	18	14533209	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.94935491383048E-4	0.178
18	14533208	A	T	18	14533209	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999912041674217	0.914
18	14533209	G	A	18	14533210	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.59777040982245E-5	0.0
18	14533209	G	C	18	14533210	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.5498927489144E-4	0.08
18	14533209	G	T	18	14533210	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.82991668882809E-4	0.024
18	14534892	A	C	18	14534893	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.43741077114241E-5	0.054
18	14534892	A	G	18	14534893	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.14677671850687E-4	0.05
18	14534892	A	T	18	14534893	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.24437440318543E-4	0.02
18	14534893	A	C	18	14534894	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.33046778321948E-5	0.02
18	14534893	A	G	18	14534894	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.14677671850687E-4	0.02
18	14534893	A	T	18	14534894	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.45526317698079E-4	0.132
18	14534894	C	A	18	14534895	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.2067590268063E-5	0.0
18	14534894	C	G	18	14534895	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.58811383086701E-5	0.054
18	14534894	C	T	18	14534895	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.74467008921965E-5	0.04
18	14534895	C	A	18	14534896	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.075443313503893	0.162
18	14534895	C	G	18	14534896	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.063473073478053	0.264
18	14534895	C	T	18	14534896	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0364796970671268	0.168
18	14534896	A	C	18	14534897	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.62658217539515E-5	0.018
18	14534896	A	G	18	14534897	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.05175661044704E-5	0.002
18	14534896	A	T	18	14534897	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.63234328485933E-5	0.074
18	14534897	T	A	18	14534898	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.996693556184773	0.752
18	14534897	T	C	18	14534898	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.746671532119834	0.648
18	14534897	T	G	18	14534898	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.997635980726484	0.722
18	14534898	A	C	18	14534899	y	y	splicing	POTEC(NM_001137671:exon5:c.917+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.917+2T>G;ENST00000358970:exon5:c.917+2T>G)	.	.	0.99996947969426	0.758
18	14534898	A	G	18	14534899	y	y	splicing	POTEC(NM_001137671:exon5:c.917+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.917+2T>C;ENST00000358970:exon5:c.917+2T>C)	.	.	0.94768146540498	0.456
18	14534898	A	T	18	14534899	y	y	splicing	POTEC(NM_001137671:exon5:c.917+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.917+2T>A;ENST00000358970:exon5:c.917+2T>A)	.	.	0.99996947969426	0.768
18	14534899	C	A	18	14534900	y	y	splicing	POTEC(NM_001137671:exon5:c.917+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.917+1G>T;ENST00000358970:exon5:c.917+1G>T)	.	.	0.999983134235584	0.764
18	14534899	C	G	18	14534900	y	y	splicing	POTEC(NM_001137671:exon5:c.917+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.917+1G>C;ENST00000358970:exon5:c.917+1G>C)	.	.	0.999983134235584	0.768
18	14534899	C	T	18	14534900	y	y	splicing	POTEC(NM_001137671:exon5:c.917+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.917+1G>A;ENST00000358970:exon5:c.917+1G>A)	.	.	0.999983134235584	0.762
18	14534900	C	A	18	14534901	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.G917T:p.R306I;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.G917T:p.R306I;ENSG00000183206:ENST00000511306:exon4:c.G917T:p.R306I;	0.999879327541862	0.934
18	14534900	C	G	18	14534901	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.G917C:p.R306T;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.G917C:p.R306T;ENSG00000183206:ENST00000511306:exon4:c.G917C:p.R306T;	0.999942861310436	1.0
18	14534900	C	T	18	14534901	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.G917A:p.R306K;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.G917A:p.R306K;ENSG00000183206:ENST00000511306:exon4:c.G917A:p.R306K;	0.999758418540615	0.984
18	14534901	T	A	18	14534902	y	y	exonic	POTEC	stopgain SNV	POTEC:NM_001137671:exon4:c.A916T:p.R306X;	exonic	ENSG00000183206	stopgain SNV	ENSG00000183206:ENST00000358970:exon4:c.A916T:p.R306X;ENSG00000183206:ENST00000511306:exon4:c.A916T:p.R306X;	0.999560211159008	0.94
18	14534901	T	C	18	14534902	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.A916G:p.R306G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.A916G:p.R306G;ENSG00000183206:ENST00000511306:exon4:c.A916G:p.R306G;	0.983640678931077	0.836
18	14534901	T	G	18	14534902	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon4:c.A916C:p.R306R;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.A916C:p.R306R;ENSG00000183206:ENST00000511306:exon4:c.A916C:p.R306R;	0.593482677495877	0.644
18	14534902	T	A	18	14534903	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon4:c.A915T:p.G305G;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.A915T:p.G305G;ENSG00000183206:ENST00000511306:exon4:c.A915T:p.G305G;	0.050094515691585	0.212
18	14534902	T	C	18	14534903	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon4:c.A915G:p.G305G;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.A915G:p.G305G;ENSG00000183206:ENST00000511306:exon4:c.A915G:p.G305G;	0.00103310993530214	0.078
18	14534902	T	G	18	14534903	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon4:c.A915C:p.G305G;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.A915C:p.G305G;ENSG00000183206:ENST00000511306:exon4:c.A915C:p.G305G;	5.12938124161165E-5	0.004
18	14535005	C	A	18	14535006	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.G812T:p.C271F;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.G812T:p.C271F;ENSG00000183206:ENST00000511306:exon4:c.G812T:p.C271F;	8.67294631984677E-6	0.012
18	14535005	C	G	18	14535006	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.G812C:p.C271S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.G812C:p.C271S;ENSG00000183206:ENST00000511306:exon4:c.G812C:p.C271S;	1.58750711260502E-5	0.004
18	14535005	C	T	18	14535006	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.G812A:p.C271Y;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.G812A:p.C271Y;ENSG00000183206:ENST00000511306:exon4:c.G812A:p.C271Y;	2.84511259516049E-4	0.012
18	14535006	A	C	18	14535007	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.T811G:p.C271G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.T811G:p.C271G;ENSG00000183206:ENST00000511306:exon4:c.T811G:p.C271G;	1.60037957984196E-5	0.07
18	14535006	A	G	18	14535007	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.T811C:p.C271R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.T811C:p.C271R;ENSG00000183206:ENST00000511306:exon4:c.T811C:p.C271R;	4.47332685387287E-5	0.042
18	14535006	A	T	18	14535007	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon4:c.T811A:p.C271S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon4:c.T811A:p.C271S;ENSG00000183206:ENST00000511306:exon4:c.T811A:p.C271S;	9.29556058669464E-6	0.008
18	14535007	C	A	18	14535008	y	y	splicing	POTEC(NM_001137671:exon5:c.811-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.811-1G>T;ENST00000358970:exon5:c.811-1G>T)	.	.	0.999983134235584	0.746
18	14535007	C	G	18	14535008	y	y	splicing	POTEC(NM_001137671:exon5:c.811-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.811-1G>C;ENST00000358970:exon5:c.811-1G>C)	.	.	0.999983134235584	0.748
18	14535007	C	T	18	14535008	y	y	splicing	POTEC(NM_001137671:exon5:c.811-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.811-1G>A;ENST00000358970:exon5:c.811-1G>A)	.	.	0.999983134235584	0.746
18	14535008	T	A	18	14535009	y	y	splicing	POTEC(NM_001137671:exon5:c.811-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.811-2A>T;ENST00000358970:exon5:c.811-2A>T)	.	.	0.99996947969426	0.756
18	14535008	T	C	18	14535009	y	y	splicing	POTEC(NM_001137671:exon5:c.811-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.811-2A>G;ENST00000358970:exon5:c.811-2A>G)	.	.	0.99996947969426	0.752
18	14535008	T	G	18	14535009	y	y	splicing	POTEC(NM_001137671:exon5:c.811-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon5:c.811-2A>C;ENST00000358970:exon5:c.811-2A>C)	.	.	0.99996947969426	0.752
18	14535009	G	A	18	14535010	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.42774079850924E-4	0.01
18	14535009	G	C	18	14535010	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.995968658219279	0.752
18	14535009	G	T	18	14535010	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.131459236401821	0.394
18	14535010	T	A	18	14535011	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.57898698280633E-5	0.0
18	14535010	T	C	18	14535011	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.20972801936073E-5	0.002
18	14535010	T	G	18	14535011	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.16776416659264E-5	0.002
18	14535011	A	C	18	14535012	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0918008374398856	0.424
18	14535011	A	G	18	14535012	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.86895896307494E-4	0.044
18	14535011	A	T	18	14535012	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.21067403896998	0.424
18	14535012	A	C	18	14535013	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.518825215176066	0.498
18	14535012	A	G	18	14535013	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.15146114984858E-5	0.008
18	14535012	A	T	18	14535013	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.761609137499896	0.492
18	14535013	A	C	18	14535014	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0516731594794375	0.21
18	14535013	A	G	18	14535014	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.49269225499229E-5	0.046
18	14535013	A	T	18	14535014	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0161998375300149	0.214
18	14535014	A	C	18	14535015	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00165626610783523	0.13
18	14535014	A	G	18	14535015	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.52654685184799E-5	0.002
18	14535014	A	T	18	14535015	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00249962939084785	0.118
18	14535015	C	A	18	14535016	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.57810315788983E-5	0.014
18	14535015	C	G	18	14535016	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.51348238298268E-6	0.004
18	14535015	C	T	18	14535016	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.00988017712165E-5	0.004
18	14535016	A	C	18	14535017	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0141270159818487	0.416
18	14535016	A	G	18	14535017	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.70264756232914E-5	0.0
18	14535016	A	T	18	14535017	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999728094313643	0.952
18	14535017	A	C	18	14535018	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.99759522381237	0.822
18	14535017	A	G	18	14535018	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00190097250415168	0.104
18	14535017	A	T	18	14535018	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0494343194888037	0.406
18	14535018	T	A	18	14535019	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.30701293735499E-5	0.012
18	14535018	T	C	18	14535019	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.15999547483547E-5	0.008
18	14535018	T	G	18	14535019	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.12388451737589E-5	0.0
18	14537792	A	C	18	14537793	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.22689920507435E-4	0.002
18	14537792	A	G	18	14537793	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.47764856870689E-5	0.006
18	14537792	A	T	18	14537793	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.97744175060913E-5	0.0
18	14537793	T	A	18	14537794	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.66175293646421E-5	0.0
18	14537793	T	C	18	14537794	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.21307803642488E-5	0.0
18	14537793	T	G	18	14537794	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.66940914792273E-6	0.0
18	14537794	C	A	18	14537795	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.12388451737589E-5	0.028
18	14537794	C	G	18	14537795	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.06330150746076E-5	0.008
18	14537794	C	T	18	14537795	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.76352396625689E-5	0.002
18	14537795	T	A	18	14537796	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.23388344327824E-4	0.006
18	14537795	T	C	18	14537796	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.88937281203779E-5	0.084
18	14537795	T	G	18	14537796	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	6.76929084404176E-5	0.008
18	14537796	A	C	18	14537797	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.56879896421794E-4	0.058
18	14537796	A	G	18	14537797	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.43078590093917E-5	0.002
18	14537796	A	T	18	14537797	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.15580267970363E-5	0.082
18	14537797	T	A	18	14537798	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999921090614679	0.866
18	14537797	T	C	18	14537798	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998647409748917	0.736
18	14537797	T	G	18	14537798	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.99992259918887	0.884
18	14537798	A	C	18	14537799	y	y	splicing	POTEC(NM_001137671:exon4:c.810+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.810+2T>G;ENST00000358970:exon4:c.810+2T>G)	.	.	0.99996405191659	0.77
18	14537798	A	G	18	14537799	y	y	splicing	POTEC(NM_001137671:exon4:c.810+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.810+2T>C;ENST00000358970:exon4:c.810+2T>C)	.	.	0.961084528913358	0.482
18	14537798	A	T	18	14537799	y	y	splicing	POTEC(NM_001137671:exon4:c.810+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.810+2T>A;ENST00000358970:exon4:c.810+2T>A)	.	.	0.999932560434043	0.8
18	14537799	C	A	18	14537800	y	y	splicing	POTEC(NM_001137671:exon4:c.810+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.810+1G>T;ENST00000358970:exon4:c.810+1G>T)	.	.	0.99996405191659	0.76
18	14537799	C	G	18	14537800	y	y	splicing	POTEC(NM_001137671:exon4:c.810+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.810+1G>C;ENST00000358970:exon4:c.810+1G>C)	.	.	0.99996405191659	0.742
18	14537799	C	T	18	14537800	y	y	splicing	POTEC(NM_001137671:exon4:c.810+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.810+1G>A;ENST00000358970:exon4:c.810+1G>A)	.	.	0.99996405191659	0.778
18	14537800	C	A	18	14537801	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.G810T:p.K270N;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.G810T:p.K270N;ENSG00000183206:ENST00000511306:exon3:c.G810T:p.K270N;	0.999986846473937	0.972
18	14537800	C	G	18	14537801	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.G810C:p.K270N;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.G810C:p.K270N;ENSG00000183206:ENST00000511306:exon3:c.G810C:p.K270N;	0.999992282751349	0.974
18	14537800	C	T	18	14537801	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon3:c.G810A:p.K270K;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.G810A:p.K270K;ENSG00000183206:ENST00000511306:exon3:c.G810A:p.K270K;	0.999987584342006	0.978
18	14537801	T	A	18	14537802	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.A809T:p.K270M;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.A809T:p.K270M;ENSG00000183206:ENST00000511306:exon3:c.A809T:p.K270M;	0.996671047749516	0.898
18	14537801	T	C	18	14537802	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.A809G:p.K270R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.A809G:p.K270R;ENSG00000183206:ENST00000511306:exon3:c.A809G:p.K270R;	0.998566697989034	0.918
18	14537801	T	G	18	14537802	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.A809C:p.K270T;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.A809C:p.K270T;ENSG00000183206:ENST00000511306:exon3:c.A809C:p.K270T;	0.994344539872125	0.812
18	14537802	T	A	18	14537803	y	y	exonic	POTEC	stopgain SNV	POTEC:NM_001137671:exon3:c.A808T:p.K270X;	exonic	ENSG00000183206	stopgain SNV	ENSG00000183206:ENST00000358970:exon3:c.A808T:p.K270X;ENSG00000183206:ENST00000511306:exon3:c.A808T:p.K270X;	0.969157954084117	0.764
18	14537802	T	C	18	14537803	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.A808G:p.K270E;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.A808G:p.K270E;ENSG00000183206:ENST00000511306:exon3:c.A808G:p.K270E;	0.00256244481789909	0.088
18	14537802	T	G	18	14537803	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.A808C:p.K270Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.A808C:p.K270Q;ENSG00000183206:ENST00000511306:exon3:c.A808C:p.K270Q;	5.2762849875387E-4	0.086
18	14537972	G	A	18	14537973	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.C638T:p.A213V;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.C638T:p.A213V;ENSG00000183206:ENST00000511306:exon3:c.C638T:p.A213V;	0.00129101952292118	0.034
18	14537972	G	C	18	14537973	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.C638G:p.A213G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.C638G:p.A213G;ENSG00000183206:ENST00000511306:exon3:c.C638G:p.A213G;	0.0018904021005	0.052
18	14537972	G	T	18	14537973	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.C638A:p.A213D;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.C638A:p.A213D;ENSG00000183206:ENST00000511306:exon3:c.C638A:p.A213D;	0.00130691502814912	0.054
18	14537973	C	A	18	14537974	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.G637T:p.A213S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.G637T:p.A213S;ENSG00000183206:ENST00000511306:exon3:c.G637T:p.A213S;	0.986115494867202	0.832
18	14537973	C	G	18	14537974	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.G637C:p.A213P;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.G637C:p.A213P;ENSG00000183206:ENST00000511306:exon3:c.G637C:p.A213P;	0.935192991978573	0.76
18	14537973	C	T	18	14537974	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon3:c.G637A:p.A213T;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon3:c.G637A:p.A213T;ENSG00000183206:ENST00000511306:exon3:c.G637A:p.A213T;	0.373402417894804	0.558
18	14537974	C	A	18	14537975	y	y	splicing	POTEC(NM_001137671:exon4:c.637-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.637-1G>T;ENST00000358970:exon4:c.637-1G>T)	.	.	0.999950354315187	0.764
18	14537974	C	G	18	14537975	y	y	splicing	POTEC(NM_001137671:exon4:c.637-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.637-1G>C;ENST00000358970:exon4:c.637-1G>C)	.	.	0.999960773712786	0.782
18	14537974	C	T	18	14537975	y	y	splicing	POTEC(NM_001137671:exon4:c.637-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.637-1G>A;ENST00000358970:exon4:c.637-1G>A)	.	.	0.999950354315187	0.776
18	14537975	T	A	18	14537976	y	y	splicing	POTEC(NM_001137671:exon4:c.637-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.637-2A>T;ENST00000358970:exon4:c.637-2A>T)	.	.	0.999950354315187	0.786
18	14537975	T	C	18	14537976	y	y	splicing	POTEC(NM_001137671:exon4:c.637-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.637-2A>G;ENST00000358970:exon4:c.637-2A>G)	.	.	0.999950354315187	0.764
18	14537975	T	G	18	14537976	y	y	splicing	POTEC(NM_001137671:exon4:c.637-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon4:c.637-2A>C;ENST00000358970:exon4:c.637-2A>C)	.	.	0.999950354315187	0.764
18	14537976	G	A	18	14537977	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0359673218755173	0.214
18	14537976	G	C	18	14537977	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998783124787325	0.714
18	14537976	G	T	18	14537977	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998004698785693	0.868
18	14537977	T	A	18	14537978	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.65067183725716E-4	0.024
18	14537977	T	C	18	14537978	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.37012572950652E-4	0.062
18	14537977	T	G	18	14537978	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.60564267629808E-4	0.038
18	14537978	C	A	18	14537979	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.73255942543295E-5	0.022
18	14537978	C	G	18	14537979	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.09830433788903E-5	0.004
18	14537978	C	T	18	14537979	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.4942464741268E-5	0.006
18	14537979	A	C	18	14537980	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.118126774442165	0.418
18	14537979	A	G	18	14537980	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.0963790646022E-5	0.02
18	14537979	A	T	18	14537980	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.99942381421623	0.908
18	14537980	G	A	18	14537981	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.12509345948572E-5	0.01
18	14537980	G	C	18	14537981	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999842940987071	0.962
18	14537980	G	T	18	14537981	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0073565205461955	0.156
18	14537981	T	A	18	14537982	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.13037446789279E-4	0.01
18	14537981	T	C	18	14537982	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.56299608263573E-5	0.0
18	14537981	T	G	18	14537982	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.76236554067965E-5	0.016
18	14537982	A	C	18	14537983	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999779304776902	0.936
18	14537982	A	G	18	14537983	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.37486012877192E-4	0.014
18	14537982	A	T	18	14537983	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0473118464829253	0.23
18	14537983	T	A	18	14537984	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.12478625828114E-4	0.024
18	14537983	T	C	18	14537984	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.998352033820243	0.95
18	14537983	T	G	18	14537984	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.51648111263221E-5	0.004
18	14537984	T	A	18	14537985	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.03879768027563E-4	0.126
18	14537984	T	C	18	14537985	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.5569559829967E-5	0.008
18	14537984	T	G	18	14537985	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.03830083401112E-4	0.038
18	14537985	A	C	18	14537986	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.16560278877124	0.388
18	14537985	A	G	18	14537986	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.37614480717773E-4	0.012
18	14537985	A	T	18	14537986	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.299427925846548	0.434
18	14538126	C	A	18	14538127	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.13337546255192E-5	0.046
18	14538126	C	G	18	14538127	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.13337546255192E-5	0.022
18	14538126	C	T	18	14538127	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.13356049673207E-5	0.032
18	14538127	T	A	18	14538128	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.91313761048853E-5	0.0
18	14538127	T	C	18	14538128	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.33332944569198E-5	0.0
18	14538127	T	G	18	14538128	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.33332944569198E-5	0.0
18	14538128	G	A	18	14538129	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.14403469562867E-6	0.016
18	14538128	G	C	18	14538129	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.52825206003399E-5	0.016
18	14538128	G	T	18	14538129	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.14959721183654E-5	0.002
18	14538129	C	A	18	14538130	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.987681290600995	0.456
18	14538129	C	G	18	14538130	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.733595679896918	0.438
18	14538129	C	T	18	14538130	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.227934665931471	0.402
18	14538130	A	C	18	14538131	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.89576960870124E-5	0.002
18	14538130	A	G	18	14538131	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.05917807786334E-5	0.002
18	14538130	A	T	18	14538131	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.67256241921852E-5	0.066
18	14538131	T	A	18	14538132	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.994083731983243	0.676
18	14538131	T	C	18	14538132	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.187935773571357	0.498
18	14538131	T	G	18	14538132	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.993443104898116	0.628
18	14538132	A	C	18	14538133	y	y	splicing	POTEC(NM_001137671:exon3:c.636+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.636+2T>G;ENST00000358970:exon3:c.636+2T>G)	.	.	0.999962956133083	0.77
18	14538132	A	G	18	14538133	y	y	splicing	POTEC(NM_001137671:exon3:c.636+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.636+2T>C;ENST00000358970:exon3:c.636+2T>C)	.	.	0.949761911477058	0.46
18	14538132	A	T	18	14538133	y	y	splicing	POTEC(NM_001137671:exon3:c.636+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.636+2T>A;ENST00000358970:exon3:c.636+2T>A)	.	.	0.999945590422375	0.768
18	14538133	C	A	18	14538134	y	y	splicing	POTEC(NM_001137671:exon3:c.636+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.636+1G>T;ENST00000358970:exon3:c.636+1G>T)	.	.	0.999962956133083	0.764
18	14538133	C	G	18	14538134	y	y	splicing	POTEC(NM_001137671:exon3:c.636+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.636+1G>C;ENST00000358970:exon3:c.636+1G>C)	.	.	0.999962956133083	0.766
18	14538133	C	T	18	14538134	y	y	splicing	POTEC(NM_001137671:exon3:c.636+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.636+1G>A;ENST00000358970:exon3:c.636+1G>A)	.	.	0.999962956133083	0.762
18	14538134	C	A	18	14538135	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.G636T:p.K212N;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.G636T:p.K212N;ENSG00000183206:ENST00000511306:exon2:c.G636T:p.K212N;	0.999387489968955	0.936
18	14538134	C	G	18	14538135	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.G636C:p.K212N;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.G636C:p.K212N;ENSG00000183206:ENST00000511306:exon2:c.G636C:p.K212N;	0.999977099501803	0.892
18	14538134	C	T	18	14538135	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon2:c.G636A:p.K212K;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.G636A:p.K212K;ENSG00000183206:ENST00000511306:exon2:c.G636A:p.K212K;	0.999503311059022	0.916
18	14538135	T	A	18	14538136	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.A635T:p.K212M;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.A635T:p.K212M;ENSG00000183206:ENST00000511306:exon2:c.A635T:p.K212M;	0.867564601173669	0.63
18	14538135	T	C	18	14538136	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.A635G:p.K212R;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.A635G:p.K212R;ENSG00000183206:ENST00000511306:exon2:c.A635G:p.K212R;	0.93962992980093	0.586
18	14538135	T	G	18	14538136	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.A635C:p.K212T;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.A635C:p.K212T;ENSG00000183206:ENST00000511306:exon2:c.A635C:p.K212T;	0.417901853680703	0.576
18	14538136	T	A	18	14538137	y	y	exonic	POTEC	stopgain SNV	POTEC:NM_001137671:exon2:c.A634T:p.K212X;	exonic	ENSG00000183206	stopgain SNV	ENSG00000183206:ENST00000358970:exon2:c.A634T:p.K212X;ENSG00000183206:ENST00000511306:exon2:c.A634T:p.K212X;	0.206711827632026	0.516
18	14538136	T	C	18	14538137	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.A634G:p.K212E;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.A634G:p.K212E;ENSG00000183206:ENST00000511306:exon2:c.A634G:p.K212E;	0.00194589117597298	0.022
18	14538136	T	G	18	14538137	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.A634C:p.K212Q;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.A634C:p.K212Q;ENSG00000183206:ENST00000511306:exon2:c.A634C:p.K212Q;	3.17347011196705E-4	0.004
18	14538247	T	A	18	14538248	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.A523T:p.T175S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.A523T:p.T175S;ENSG00000183206:ENST00000511306:exon2:c.A523T:p.T175S;	0.00202878712552404	0.052
18	14538247	T	C	18	14538248	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.A523G:p.T175A;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.A523G:p.T175A;ENSG00000183206:ENST00000511306:exon2:c.A523G:p.T175A;	0.00298127649094328	0.086
18	14538247	T	G	18	14538248	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.A523C:p.T175P;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.A523C:p.T175P;ENSG00000183206:ENST00000511306:exon2:c.A523C:p.T175P;	0.00451121496117345	0.098
18	14538248	C	A	18	14538249	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.G522T:p.R174S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.G522T:p.R174S;ENSG00000183206:ENST00000511306:exon2:c.G522T:p.R174S;	0.994277014211929	0.838
18	14538248	C	G	18	14538249	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon2:c.G522C:p.R174S;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.G522C:p.R174S;ENSG00000183206:ENST00000511306:exon2:c.G522C:p.R174S;	0.480135408158616	0.674
18	14538248	C	T	18	14538249	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon2:c.G522A:p.R174R;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon2:c.G522A:p.R174R;ENSG00000183206:ENST00000511306:exon2:c.G522A:p.R174R;	0.00854711137554143	0.108
18	14538249	C	A	18	14538250	y	y	splicing	POTEC(NM_001137671:exon3:c.522-1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.522-1G>T;ENST00000358970:exon3:c.522-1G>T)	.	.	0.999971596609132	0.762
18	14538249	C	G	18	14538250	y	y	splicing	POTEC(NM_001137671:exon3:c.522-1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.522-1G>C;ENST00000358970:exon3:c.522-1G>C)	.	.	0.999962956133083	0.762
18	14538249	C	T	18	14538250	y	y	splicing	POTEC(NM_001137671:exon3:c.522-1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.522-1G>A;ENST00000358970:exon3:c.522-1G>A)	.	.	0.99996405191659	0.75
18	14538250	T	A	18	14538251	y	y	splicing	POTEC(NM_001137671:exon3:c.522-2A>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.522-2A>T;ENST00000358970:exon3:c.522-2A>T)	.	.	0.99996405191659	0.756
18	14538250	T	C	18	14538251	y	y	splicing	POTEC(NM_001137671:exon3:c.522-2A>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.522-2A>G;ENST00000358970:exon3:c.522-2A>G)	.	.	0.999962956133083	0.768
18	14538250	T	G	18	14538251	y	y	splicing	POTEC(NM_001137671:exon3:c.522-2A>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon3:c.522-2A>C;ENST00000358970:exon3:c.522-2A>C)	.	.	0.999962956133083	0.768
18	14538251	A	C	18	14538252	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.959121541093844	0.696
18	14538251	A	G	18	14538252	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.7466522419883E-5	0.024
18	14538251	A	T	18	14538252	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00327391575552884	0.278
18	14538252	T	A	18	14538253	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.10041975634685E-5	0.0
18	14538252	T	C	18	14538253	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	8.24919546592255E-5	0.0
18	14538252	T	G	18	14538253	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.2819485014514E-5	0.002
18	14538253	G	A	18	14538254	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.98959612483117E-5	0.004
18	14538253	G	C	18	14538254	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.40899128456253E-4	0.108
18	14538253	G	T	18	14538254	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.55167091701676E-4	0.074
18	14538254	A	C	18	14538255	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.054047441701491	0.198
18	14538254	A	G	18	14538255	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.41944681181878E-4	0.016
18	14538254	A	T	18	14538255	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0113663927955844	0.146
18	14538255	G	A	18	14538256	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.38157361999106E-5	0.002
18	14538255	G	C	18	14538256	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.12604070695316E-5	0.026
18	14538255	G	T	18	14538256	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.17816263483173E-4	0.014
18	14538256	A	C	18	14538257	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.79606818406757E-4	0.05
18	14538256	A	G	18	14538257	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.01201998804418E-5	0.002
18	14538256	A	T	18	14538257	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.00331308401653395	0.076
18	14538257	G	A	18	14538258	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.75660326784244E-5	0.01
18	14538257	G	C	18	14538258	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999709394885098	0.948
18	14538257	G	T	18	14538258	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.93204241206831E-4	0.058
18	14538258	T	A	18	14538259	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.64244932657408E-5	0.008
18	14538258	T	C	18	14538259	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.50701267376546E-5	0.0
18	14538258	T	G	18	14538259	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.45833609445947E-5	0.0
18	14538259	G	A	18	14538260	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.46814347342481E-5	0.018
18	14538259	G	C	18	14538260	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.44066963023093E-4	0.08
18	14538259	G	T	18	14538260	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	3.53548178830385E-4	0.058
18	14538260	A	C	18	14538261	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.110619963996582	0.328
18	14538260	A	G	18	14538261	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.26775560963238E-4	0.022
18	14538260	A	T	18	14538261	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.106722244322654	0.326
18	14542617	C	A	18	14542618	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.71739163390851E-6	0.0
18	14542617	C	G	18	14542618	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.48537499622246E-6	0.0
18	14542617	C	T	18	14542618	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.71739163390851E-6	0.0
18	14542618	C	A	18	14542619	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	4.31902944701724E-5	0.0
18	14542618	C	G	18	14542619	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.17246496461593E-5	0.0
18	14542618	C	T	18	14542619	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.81104709051921E-5	0.002
18	14542619	A	C	18	14542620	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.18599905822588E-4	0.082
18	14542619	A	G	18	14542620	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	2.07269207296594E-4	0.084
18	14542619	A	T	18	14542620	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	9.5673830514729E-5	0.054
18	14542620	G	A	18	14542621	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	7.44860817110795E-6	0.0
18	14542620	G	C	18	14542621	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	5.5926913162787E-5	0.098
18	14542620	G	T	18	14542621	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	1.83027201633867E-5	0.008
18	14542621	T	A	18	14542622	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.170918956980145	0.444
18	14542621	T	C	18	14542622	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.535605009934339	0.486
18	14542621	T	G	18	14542622	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.109446267924891	0.4
18	14542622	T	A	18	14542623	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.999681949786263	0.654
18	14542622	T	C	18	14542623	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.0906104272242606	0.482
18	14542622	T	G	18	14542623	y	y	intronic	POTEC	.	.	intronic	ENSG00000183206	.	.	0.997903592871849	0.63
18	14542623	A	C	18	14542624	y	y	splicing	POTEC(NM_001137671:exon2:c.521+2T>G)	.	.	splicing	ENSG00000183206(ENST00000511306:exon2:c.521+2T>G;ENST00000358970:exon2:c.521+2T>G)	.	.	0.999976402271662	0.654
18	14542623	A	G	18	14542624	y	y	splicing	POTEC(NM_001137671:exon2:c.521+2T>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon2:c.521+2T>C;ENST00000358970:exon2:c.521+2T>C)	.	.	0.812536552820541	0.534
18	14542623	A	T	18	14542624	y	y	splicing	POTEC(NM_001137671:exon2:c.521+2T>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon2:c.521+2T>A;ENST00000358970:exon2:c.521+2T>A)	.	.	0.999976402271662	0.674
18	14542624	C	A	18	14542625	y	y	splicing	POTEC(NM_001137671:exon2:c.521+1G>T)	.	.	splicing	ENSG00000183206(ENST00000511306:exon2:c.521+1G>T;ENST00000358970:exon2:c.521+1G>T)	.	.	0.999980535492709	0.704
18	14542624	C	G	18	14542625	y	y	splicing	POTEC(NM_001137671:exon2:c.521+1G>C)	.	.	splicing	ENSG00000183206(ENST00000511306:exon2:c.521+1G>C;ENST00000358970:exon2:c.521+1G>C)	.	.	0.999980535492709	0.698
18	14542624	C	T	18	14542625	y	y	splicing	POTEC(NM_001137671:exon2:c.521+1G>A)	.	.	splicing	ENSG00000183206(ENST00000511306:exon2:c.521+1G>A;ENST00000358970:exon2:c.521+1G>A)	.	.	0.999980535492709	0.708
18	14542625	C	A	18	14542626	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon1:c.G521T:p.R174M;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.G521T:p.R174M;ENSG00000183206:ENST00000511306:exon1:c.G521T:p.R174M;	0.989132746332516	0.804
18	14542625	C	G	18	14542626	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon1:c.G521C:p.R174T;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.G521C:p.R174T;ENSG00000183206:ENST00000511306:exon1:c.G521C:p.R174T;	0.998932212746582	0.8
18	14542625	C	T	18	14542626	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon1:c.G521A:p.R174K;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.G521A:p.R174K;ENSG00000183206:ENST00000511306:exon1:c.G521A:p.R174K;	0.999642062877775	0.986
18	14542626	T	A	18	14542627	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon1:c.A520T:p.R174W;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.A520T:p.R174W;ENSG00000183206:ENST00000511306:exon1:c.A520T:p.R174W;	0.993602587733843	0.862
18	14542626	T	C	18	14542627	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon1:c.A520G:p.R174G;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.A520G:p.R174G;ENSG00000183206:ENST00000511306:exon1:c.A520G:p.R174G;	0.993649761653501	0.72
18	14542626	T	G	18	14542627	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon1:c.A520C:p.R174R;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.A520C:p.R174R;ENSG00000183206:ENST00000511306:exon1:c.A520C:p.R174R;	0.596331854102178	0.648
18	14542627	C	A	18	14542628	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon1:c.G519T:p.K173N;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.G519T:p.K173N;ENSG00000183206:ENST00000511306:exon1:c.G519T:p.K173N;	0.00182951972860151	0.014
18	14542627	C	G	18	14542628	y	y	exonic	POTEC	nonsynonymous SNV	POTEC:NM_001137671:exon1:c.G519C:p.K173N;	exonic	ENSG00000183206	nonsynonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.G519C:p.K173N;ENSG00000183206:ENST00000511306:exon1:c.G519C:p.K173N;	3.90398011338777E-5	0.002
18	14542627	C	T	18	14542628	y	y	exonic	POTEC	synonymous SNV	POTEC:NM_001137671:exon1:c.G519A:p.K173K;	exonic	ENSG00000183206	synonymous SNV	ENSG00000183206:ENST00000358970:exon1:c.G519A:p.K173K;ENSG00000183206:ENST00000511306:exon1:c.G519A:p.K173K;	8.80590896278634E-6	0.004
18	14748637	G	A	18	14748638	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon1:c.G219A:p.K73K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.G219A:p.K73K;ENSG00000180777:ENST00000358984:exon1:c.G219A:p.K73K;ENSG00000180777:ENST00000447268:exon1:c.G219A:p.K73K;	3.43124837086309E-5	0.006
18	14748637	G	C	18	14748638	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon1:c.G219C:p.K73N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.G219C:p.K73N;ENSG00000180777:ENST00000358984:exon1:c.G219C:p.K73N;ENSG00000180777:ENST00000447268:exon1:c.G219C:p.K73N;	2.44932566983853E-5	0.07
18	14748637	G	T	18	14748638	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon1:c.G219T:p.K73N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.G219T:p.K73N;ENSG00000180777:ENST00000358984:exon1:c.G219T:p.K73N;ENSG00000180777:ENST00000447268:exon1:c.G219T:p.K73N;	0.00457734567118626	0.214
18	14748638	A	C	18	14748639	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon1:c.A220C:p.R74R;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.A220C:p.R74R;ENSG00000180777:ENST00000358984:exon1:c.A220C:p.R74R;ENSG00000180777:ENST00000447268:exon1:c.A220C:p.R74R;	0.998457734592756	0.86
18	14748638	A	G	18	14748639	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon1:c.A220G:p.R74G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.A220G:p.R74G;ENSG00000180777:ENST00000358984:exon1:c.A220G:p.R74G;ENSG00000180777:ENST00000447268:exon1:c.A220G:p.R74G;	0.999948615731544	0.948
18	14748638	A	T	18	14748639	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon1:c.A220T:p.R74W;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.A220T:p.R74W;ENSG00000180777:ENST00000358984:exon1:c.A220T:p.R74W;ENSG00000180777:ENST00000447268:exon1:c.A220T:p.R74W;	0.999956893556988	0.974
18	14748639	G	A	18	14748640	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon1:c.G221A:p.R74K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.G221A:p.R74K;ENSG00000180777:ENST00000358984:exon1:c.G221A:p.R74K;ENSG00000180777:ENST00000447268:exon1:c.G221A:p.R74K;	0.99999526501137	0.984
18	14748639	G	C	18	14748640	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon1:c.G221C:p.R74T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.G221C:p.R74T;ENSG00000180777:ENST00000358984:exon1:c.G221C:p.R74T;ENSG00000180777:ENST00000447268:exon1:c.G221C:p.R74T;	0.999981948903814	0.97
18	14748639	G	T	18	14748640	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon1:c.G221T:p.R74M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon1:c.G221T:p.R74M;ENSG00000180777:ENST00000358984:exon1:c.G221T:p.R74M;ENSG00000180777:ENST00000447268:exon1:c.G221T:p.R74M;	0.99998524201253	0.958
18	14748640	G	A	18	14748641	y	y	splicing	ANKRD30B(NM_001145029:exon1:c.221+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon1:c.221+1G>A;ENST00000580206:exon1:c.221+1G>A;ENST00000447268:exon1:c.221+1G>A)	.	.	0.99996947969426	0.752
18	14748640	G	C	18	14748641	y	y	splicing	ANKRD30B(NM_001145029:exon1:c.221+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon1:c.221+1G>C;ENST00000580206:exon1:c.221+1G>C;ENST00000447268:exon1:c.221+1G>C)	.	.	0.99996947969426	0.752
18	14748640	G	T	18	14748641	y	y	splicing	ANKRD30B(NM_001145029:exon1:c.221+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon1:c.221+1G>T;ENST00000580206:exon1:c.221+1G>T;ENST00000447268:exon1:c.221+1G>T)	.	.	0.99996947969426	0.752
18	14748641	T	A	18	14748642	y	y	splicing	ANKRD30B(NM_001145029:exon1:c.221+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon1:c.221+2T>A;ENST00000580206:exon1:c.221+2T>A;ENST00000447268:exon1:c.221+2T>A)	.	.	0.99996947969426	0.758
18	14748641	T	C	18	14748642	y	y	splicing	ANKRD30B(NM_001145029:exon1:c.221+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon1:c.221+2T>C;ENST00000580206:exon1:c.221+2T>C;ENST00000447268:exon1:c.221+2T>C)	.	.	0.93811370939863	0.504
18	14748641	T	G	18	14748642	y	y	splicing	ANKRD30B(NM_001145029:exon1:c.221+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon1:c.221+2T>G;ENST00000580206:exon1:c.221+2T>G;ENST00000447268:exon1:c.221+2T>G)	.	.	0.99996947969426	0.752
18	14748642	A	C	18	14748643	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999979144197621	0.946
18	14748642	A	G	18	14748643	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999097552011694	0.786
18	14748642	A	T	18	14748643	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999981603665862	0.944
18	14748643	C	A	18	14748644	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.76415899557777E-5	0.204
18	14748643	C	G	18	14748644	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.1077687742625E-4	0.09
18	14748643	C	T	18	14748644	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.98320734023363E-5	0.044
18	14748644	C	A	18	14748645	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.2539959024682E-5	0.034
18	14748644	C	G	18	14748645	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.86801282302873E-4	0.198
18	14748644	C	T	18	14748645	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.81483602215557E-5	0.002
18	14748645	A	C	18	14748646	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.8279740602466E-5	0.058
18	14748645	A	G	18	14748646	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.90403565901832E-4	0.03
18	14748645	A	T	18	14748646	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.67761414517375E-5	0.038
18	14748646	G	A	18	14748647	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.24093133666403E-4	0.026
18	14748646	G	C	18	14748647	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.26190407942488E-4	0.018
18	14748646	G	T	18	14748647	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.57717850473529E-4	0.022
18	14748647	G	A	18	14748648	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.46244800020668E-4	0.014
18	14748647	G	C	18	14748648	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.57717850473529E-4	0.054
18	14748647	G	T	18	14748648	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.67517765838048E-4	0.064
18	14752553	T	A	18	14752554	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.405525875769648	0.37
18	14752553	T	C	18	14752554	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.20804785016007E-4	0.014
18	14752553	T	G	18	14752554	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.641692568856786	0.372
18	14752554	C	A	18	14752555	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.97575326808797E-4	0.094
18	14752554	C	G	18	14752555	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.43648787133493E-4	0.096
18	14752554	C	T	18	14752555	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.55408206829149E-5	0.016
18	14752555	A	C	18	14752556	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.56395778278107E-5	0.0
18	14752555	A	G	18	14752556	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.59492539928745E-5	0.0
18	14752555	A	T	18	14752556	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.88586920156115E-5	0.012
18	14752556	C	A	18	14752557	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.15474662372679E-4	0.052
18	14752556	C	G	18	14752557	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999759866890395	0.966
18	14752556	C	T	18	14752557	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.5694734488976E-5	0.004
18	14752557	T	A	18	14752558	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00372355206226004	0.082
18	14752557	T	C	18	14752558	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.9548831236286E-5	0.0
18	14752557	T	G	18	14752558	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00149254624510223	0.048
18	14752558	C	A	18	14752559	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.00325552055902E-4	0.036
18	14752558	C	G	18	14752559	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.04098310059366E-5	0.062
18	14752558	C	T	18	14752559	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.80024575820839E-5	0.002
18	14752559	T	A	18	14752560	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0159482626617682	0.178
18	14752559	T	C	18	14752560	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.43926147772982E-4	0.04
18	14752559	T	G	18	14752560	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0243659259058881	0.19
18	14752560	C	A	18	14752561	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999761143257205	0.958
18	14752560	C	G	18	14752561	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00703692682509076	0.144
18	14752560	C	T	18	14752561	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.78453649015838E-5	0.004
18	14752561	G	A	18	14752562	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.27620433412555E-5	0.0
18	14752561	G	C	18	14752562	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1754714809698E-5	0.0
18	14752561	G	T	18	14752562	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.05094820976375E-5	0.0
18	14752562	T	A	18	14752563	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0567386300591082	0.334
18	14752562	T	C	18	14752563	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.6411629242791E-5	0.028
18	14752562	T	G	18	14752563	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.960048448508931	0.698
18	14752563	A	C	18	14752564	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.222-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.222-2A>C;ENST00000580206:exon2:c.222-2A>C;ENST00000447268:exon2:c.222-2A>C)	.	.	0.99996947969426	0.752
18	14752563	A	G	18	14752564	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.222-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.222-2A>G;ENST00000580206:exon2:c.222-2A>G;ENST00000447268:exon2:c.222-2A>G)	.	.	0.99996947969426	0.752
18	14752563	A	T	18	14752564	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.222-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.222-2A>T;ENST00000580206:exon2:c.222-2A>T;ENST00000447268:exon2:c.222-2A>T)	.	.	0.99996947969426	0.752
18	14752564	G	A	18	14752565	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.222-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.222-1G>A;ENST00000580206:exon2:c.222-1G>A;ENST00000447268:exon2:c.222-1G>A)	.	.	0.999973093631733	0.748
18	14752564	G	C	18	14752565	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.222-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.222-1G>C;ENST00000580206:exon2:c.222-1G>C;ENST00000447268:exon2:c.222-1G>C)	.	.	0.999973093631733	0.75
18	14752564	G	T	18	14752565	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.222-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.222-1G>T;ENST00000580206:exon2:c.222-1G>T;ENST00000447268:exon2:c.222-1G>T)	.	.	0.999973093631733	0.748
18	14752565	G	A	18	14752566	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon2:c.G222A:p.R74R;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.G222A:p.R74R;ENSG00000180777:ENST00000358984:exon2:c.G222A:p.R74R;ENSG00000180777:ENST00000447268:exon2:c.G222A:p.R74R;	0.0126690427356076	0.264
18	14752565	G	C	18	14752566	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.G222C:p.R74S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.G222C:p.R74S;ENSG00000180777:ENST00000358984:exon2:c.G222C:p.R74S;ENSG00000180777:ENST00000447268:exon2:c.G222C:p.R74S;	0.802565976166945	0.584
18	14752565	G	T	18	14752566	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.G222T:p.R74S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.G222T:p.R74S;ENSG00000180777:ENST00000358984:exon2:c.G222T:p.R74S;ENSG00000180777:ENST00000447268:exon2:c.G222T:p.R74S;	0.997984819531749	0.738
18	14752566	A	C	18	14752567	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.A223C:p.T75P;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.A223C:p.T75P;ENSG00000180777:ENST00000358984:exon2:c.A223C:p.T75P;ENSG00000180777:ENST00000447268:exon2:c.A223C:p.T75P;	0.00247215533080574	0.014
18	14752566	A	G	18	14752567	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.A223G:p.T75A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.A223G:p.T75A;ENSG00000180777:ENST00000358984:exon2:c.A223G:p.T75A;ENSG00000180777:ENST00000447268:exon2:c.A223G:p.T75A;	0.00173669489236285	0.034
18	14752566	A	T	18	14752567	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.A223T:p.T75S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.A223T:p.T75S;ENSG00000180777:ENST00000358984:exon2:c.A223T:p.T75S;ENSG00000180777:ENST00000447268:exon2:c.A223T:p.T75S;	7.17002122684685E-4	0.002
18	14752677	A	C	18	14752678	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.A334C:p.K112Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.A334C:p.K112Q;ENSG00000180777:ENST00000358984:exon2:c.A334C:p.K112Q;ENSG00000180777:ENST00000447268:exon2:c.A334C:p.K112Q;	0.00589376020549014	0.054
18	14752677	A	G	18	14752678	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.A334G:p.K112E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.A334G:p.K112E;ENSG00000180777:ENST00000358984:exon2:c.A334G:p.K112E;ENSG00000180777:ENST00000447268:exon2:c.A334G:p.K112E;	6.50865221154917E-4	0.014
18	14752677	A	T	18	14752678	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon2:c.A334T:p.K112X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon2:c.A334T:p.K112X;ENSG00000180777:ENST00000358984:exon2:c.A334T:p.K112X;ENSG00000180777:ENST00000447268:exon2:c.A334T:p.K112X;	0.281310481422409	0.436
18	14752678	A	C	18	14752679	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.A335C:p.K112T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.A335C:p.K112T;ENSG00000180777:ENST00000358984:exon2:c.A335C:p.K112T;ENSG00000180777:ENST00000447268:exon2:c.A335C:p.K112T;	0.552139766534247	0.598
18	14752678	A	G	18	14752679	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.A335G:p.K112R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.A335G:p.K112R;ENSG00000180777:ENST00000358984:exon2:c.A335G:p.K112R;ENSG00000180777:ENST00000447268:exon2:c.A335G:p.K112R;	0.939693734056796	0.648
18	14752678	A	T	18	14752679	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.A335T:p.K112M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.A335T:p.K112M;ENSG00000180777:ENST00000358984:exon2:c.A335T:p.K112M;ENSG00000180777:ENST00000447268:exon2:c.A335T:p.K112M;	0.972452733017635	0.688
18	14752679	G	A	18	14752680	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon2:c.G336A:p.K112K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.G336A:p.K112K;ENSG00000180777:ENST00000358984:exon2:c.G336A:p.K112K;ENSG00000180777:ENST00000447268:exon2:c.G336A:p.K112K;	0.999435432616154	0.928
18	14752679	G	C	18	14752680	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.G336C:p.K112N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.G336C:p.K112N;ENSG00000180777:ENST00000358984:exon2:c.G336C:p.K112N;ENSG00000180777:ENST00000447268:exon2:c.G336C:p.K112N;	0.999987423407566	0.994
18	14752679	G	T	18	14752680	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon2:c.G336T:p.K112N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon2:c.G336T:p.K112N;ENSG00000180777:ENST00000358984:exon2:c.G336T:p.K112N;ENSG00000180777:ENST00000447268:exon2:c.G336T:p.K112N;	0.999381588526638	0.97
18	14752680	G	A	18	14752681	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.336+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.336+1G>A;ENST00000580206:exon2:c.336+1G>A;ENST00000447268:exon2:c.336+1G>A)	.	.	0.999940545755154	0.83
18	14752680	G	C	18	14752681	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.336+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.336+1G>C;ENST00000580206:exon2:c.336+1G>C;ENST00000447268:exon2:c.336+1G>C)	.	.	0.999940545755154	0.802
18	14752680	G	T	18	14752681	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.336+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.336+1G>T;ENST00000580206:exon2:c.336+1G>T;ENST00000447268:exon2:c.336+1G>T)	.	.	0.999940545755154	0.808
18	14752681	T	A	18	14752682	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.336+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.336+2T>A;ENST00000580206:exon2:c.336+2T>A;ENST00000447268:exon2:c.336+2T>A)	.	.	0.999932560434043	0.838
18	14752681	T	C	18	14752682	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.336+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.336+2T>C;ENST00000580206:exon2:c.336+2T>C;ENST00000447268:exon2:c.336+2T>C)	.	.	0.943924700137652	0.542
18	14752681	T	G	18	14752682	y	y	splicing	ANKRD30B(NM_001145029:exon2:c.336+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon2:c.336+2T>G;ENST00000580206:exon2:c.336+2T>G;ENST00000447268:exon2:c.336+2T>G)	.	.	0.999932560434043	0.802
18	14752682	A	C	18	14752683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999015452504584	0.742
18	14752682	A	G	18	14752683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.307697528967765	0.438
18	14752682	A	T	18	14752683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997836519787697	0.638
18	14752683	A	C	18	14752684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0538636718275988	0.348
18	14752683	A	G	18	14752684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0856146716893655	0.336
18	14752683	A	T	18	14752684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0431788676926491	0.376
18	14752684	A	C	18	14752685	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.58969974439837E-5	0.022
18	14752684	A	G	18	14752685	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.73982250731844E-5	0.094
18	14752684	A	T	18	14752685	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.84912548331688E-5	0.008
18	14752685	T	A	18	14752686	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.22893042852281E-4	0.174
18	14752685	T	C	18	14752686	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.82552784064663E-4	0.248
18	14752685	T	G	18	14752686	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.64811153480342E-5	0.156
18	14752686	A	C	18	14752687	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1413478124246E-5	0.002
18	14752686	A	G	18	14752687	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.61440950243807E-5	0.002
18	14752686	A	T	18	14752687	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.15732270990616E-5	0.006
18	14752687	G	A	18	14752688	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.15017154003237E-4	0.028
18	14752687	G	C	18	14752688	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.15017154003237E-4	0.022
18	14752687	G	T	18	14752688	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.51727001802882E-4	0.034
18	14752826	T	A	18	14752827	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0111595084982466	0.262
18	14752826	T	C	18	14752827	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.39159512546881E-5	0.008
18	14752826	T	G	18	14752827	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00109912418251734	0.118
18	14752827	A	C	18	14752828	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.13451296311492E-4	0.056
18	14752827	A	G	18	14752828	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.64201002851354E-5	0.012
18	14752827	A	T	18	14752828	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.28629632589723E-4	0.196
18	14752828	A	C	18	14752829	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.89002725037589E-5	0.002
18	14752828	A	G	18	14752829	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997726232195549	0.962
18	14752828	A	T	18	14752829	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.43495164418478E-4	0.026
18	14752829	T	A	18	14752830	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00761954370329586	0.282
18	14752829	T	C	18	14752830	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1722783301097E-4	0.09
18	14752829	T	G	18	14752830	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999535949796044	0.936
18	14752830	A	C	18	14752831	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.22502271248223E-5	0.03
18	14752830	A	G	18	14752831	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.37471600229036E-5	0.006
18	14752830	A	T	18	14752831	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.22502271248223E-5	0.024
18	14752831	C	A	18	14752832	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.33421335478333E-4	0.08
18	14752831	C	G	18	14752832	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999872516021028	0.95
18	14752831	C	T	18	14752832	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.86467730949426E-5	0.0
18	14752832	T	A	18	14752833	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.987964784108138	0.7
18	14752832	T	C	18	14752833	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.32887091328004E-5	0.102
18	14752832	T	G	18	14752833	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00756483573117956	0.264
18	14752833	G	A	18	14752834	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67073777453754E-5	0.0
18	14752833	G	C	18	14752834	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52984219247393E-5	0.002
18	14752833	G	T	18	14752834	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.09950991543377E-5	0.034
18	14752834	A	C	18	14752835	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00108410355041369	0.066
18	14752834	A	G	18	14752835	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00360970069834191	0.028
18	14752834	A	T	18	14752835	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.00934109781731E-4	0.048
18	14752835	C	A	18	14752836	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998589391929458	0.89
18	14752835	C	G	18	14752836	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999859526207574	0.688
18	14752835	C	T	18	14752836	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0217746225809272	0.186
18	14752836	A	C	18	14752837	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.337-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.337-2A>C;ENST00000580206:exon3:c.337-2A>C;ENST00000447268:exon3:c.337-2A>C)	.	.	0.999957241197008	0.784
18	14752836	A	G	18	14752837	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.337-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.337-2A>G;ENST00000580206:exon3:c.337-2A>G;ENST00000447268:exon3:c.337-2A>G)	.	.	0.999940442019369	0.784
18	14752836	A	T	18	14752837	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.337-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.337-2A>T;ENST00000580206:exon3:c.337-2A>T;ENST00000447268:exon3:c.337-2A>T)	.	.	0.999971749625584	0.764
18	14752837	G	A	18	14752838	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.337-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.337-1G>A;ENST00000580206:exon3:c.337-1G>A;ENST00000447268:exon3:c.337-1G>A)	.	.	0.999980321874021	0.77
18	14752837	G	C	18	14752838	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.337-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.337-1G>C;ENST00000580206:exon3:c.337-1G>C;ENST00000447268:exon3:c.337-1G>C)	.	.	0.999947494154093	0.784
18	14752837	G	T	18	14752838	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.337-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.337-1G>T;ENST00000580206:exon3:c.337-1G>T;ENST00000447268:exon3:c.337-1G>T)	.	.	0.999962304251568	0.784
18	14752838	G	A	18	14752839	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.G337A:p.A113T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.G337A:p.A113T;ENSG00000180777:ENST00000358984:exon3:c.G337A:p.A113T;ENSG00000180777:ENST00000447268:exon3:c.G337A:p.A113T;	0.867048504380975	0.56
18	14752838	G	C	18	14752839	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.G337C:p.A113P;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.G337C:p.A113P;ENSG00000180777:ENST00000358984:exon3:c.G337C:p.A113P;ENSG00000180777:ENST00000447268:exon3:c.G337C:p.A113P;	0.972941844969648	0.798
18	14752838	G	T	18	14752839	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.G337T:p.A113S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.G337T:p.A113S;ENSG00000180777:ENST00000358984:exon3:c.G337T:p.A113S;ENSG00000180777:ENST00000447268:exon3:c.G337T:p.A113S;	0.994597355727591	0.85
18	14752839	C	A	18	14752840	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.C338A:p.A113D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.C338A:p.A113D;ENSG00000180777:ENST00000358984:exon3:c.C338A:p.A113D;ENSG00000180777:ENST00000447268:exon3:c.C338A:p.A113D;	0.00589630505594073	0.134
18	14752839	C	G	18	14752840	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.C338G:p.A113G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.C338G:p.A113G;ENSG00000180777:ENST00000358984:exon3:c.C338G:p.A113G;ENSG00000180777:ENST00000447268:exon3:c.C338G:p.A113G;	0.00190415839728381	0.122
18	14752839	C	T	18	14752840	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.C338T:p.A113V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.C338T:p.A113V;ENSG00000180777:ENST00000358984:exon3:c.C338T:p.A113V;ENSG00000180777:ENST00000447268:exon3:c.C338T:p.A113V;	0.0325403392323932	0.198
18	14753009	A	C	18	14753010	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.A508C:p.K170Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.A508C:p.K170Q;ENSG00000180777:ENST00000358984:exon3:c.A508C:p.K170Q;ENSG00000180777:ENST00000447268:exon3:c.A508C:p.K170Q;	0.00203239907034767	0.006
18	14753009	A	G	18	14753010	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.A508G:p.K170E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.A508G:p.K170E;ENSG00000180777:ENST00000358984:exon3:c.A508G:p.K170E;ENSG00000180777:ENST00000447268:exon3:c.A508G:p.K170E;	0.0107210332736872	0.144
18	14753009	A	T	18	14753010	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon3:c.A508T:p.K170X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon3:c.A508T:p.K170X;ENSG00000180777:ENST00000358984:exon3:c.A508T:p.K170X;ENSG00000180777:ENST00000447268:exon3:c.A508T:p.K170X;	0.963674722794778	0.732
18	14753010	A	C	18	14753011	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.A509C:p.K170T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.A509C:p.K170T;ENSG00000180777:ENST00000358984:exon3:c.A509C:p.K170T;ENSG00000180777:ENST00000447268:exon3:c.A509C:p.K170T;	0.926039769882772	0.646
18	14753010	A	G	18	14753011	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.A509G:p.K170R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.A509G:p.K170R;ENSG00000180777:ENST00000358984:exon3:c.A509G:p.K170R;ENSG00000180777:ENST00000447268:exon3:c.A509G:p.K170R;	0.987531752720778	0.75
18	14753010	A	T	18	14753011	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.A509T:p.K170M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.A509T:p.K170M;ENSG00000180777:ENST00000358984:exon3:c.A509T:p.K170M;ENSG00000180777:ENST00000447268:exon3:c.A509T:p.K170M;	0.950135142244699	0.736
18	14753011	G	A	18	14753012	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon3:c.G510A:p.K170K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.G510A:p.K170K;ENSG00000180777:ENST00000358984:exon3:c.G510A:p.K170K;ENSG00000180777:ENST00000447268:exon3:c.G510A:p.K170K;	0.999985960613391	0.94
18	14753011	G	C	18	14753012	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.G510C:p.K170N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.G510C:p.K170N;ENSG00000180777:ENST00000358984:exon3:c.G510C:p.K170N;ENSG00000180777:ENST00000447268:exon3:c.G510C:p.K170N;	0.999988184023957	0.96
18	14753011	G	T	18	14753012	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon3:c.G510T:p.K170N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon3:c.G510T:p.K170N;ENSG00000180777:ENST00000358984:exon3:c.G510T:p.K170N;ENSG00000180777:ENST00000447268:exon3:c.G510T:p.K170N;	0.999979860529688	0.964
18	14753012	G	A	18	14753013	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.510+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.510+1G>A;ENST00000580206:exon3:c.510+1G>A;ENST00000447268:exon3:c.510+1G>A)	.	.	0.999973093631733	0.75
18	14753012	G	C	18	14753013	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.510+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.510+1G>C;ENST00000580206:exon3:c.510+1G>C;ENST00000447268:exon3:c.510+1G>C)	.	.	0.999973093631733	0.738
18	14753012	G	T	18	14753013	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.510+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.510+1G>T;ENST00000580206:exon3:c.510+1G>T;ENST00000447268:exon3:c.510+1G>T)	.	.	0.999973093631733	0.75
18	14753013	T	A	18	14753014	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.510+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.510+2T>A;ENST00000580206:exon3:c.510+2T>A;ENST00000447268:exon3:c.510+2T>A)	.	.	0.99996947969426	0.754
18	14753013	T	C	18	14753014	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.510+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.510+2T>C;ENST00000580206:exon3:c.510+2T>C;ENST00000447268:exon3:c.510+2T>C)	.	.	0.885968535044706	0.478
18	14753013	T	G	18	14753014	y	y	splicing	ANKRD30B(NM_001145029:exon3:c.510+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon3:c.510+2T>G;ENST00000580206:exon3:c.510+2T>G;ENST00000447268:exon3:c.510+2T>G)	.	.	0.99996947969426	0.754
18	14753014	A	C	18	14753015	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999869481480089	0.774
18	14753014	A	G	18	14753015	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.981438725035634	0.702
18	14753014	A	T	18	14753015	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999710037009919	0.778
18	14753015	G	A	18	14753016	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.04104980712042E-5	0.016
18	14753015	G	C	18	14753016	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1477851256047E-5	0.004
18	14753015	G	T	18	14753016	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.15013127162789E-5	0.004
18	14753016	A	C	18	14753017	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.06567656855707E-5	0.018
18	14753016	A	G	18	14753017	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.54082555516298E-5	0.146
18	14753016	A	T	18	14753017	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.94280739264908E-4	0.02
18	14753017	C	A	18	14753018	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.81711232393286E-5	0.018
18	14753017	C	G	18	14753018	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.51398075977974E-5	0.02
18	14753017	C	T	18	14753018	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.15691730603752E-5	0.006
18	14753018	A	C	18	14753019	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.28475376997949E-5	0.0
18	14753018	A	G	18	14753019	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.28475376997949E-5	0.0
18	14753018	A	T	18	14753019	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.10898101479486E-5	0.0
18	14753019	T	A	18	14753020	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.29704539350876E-5	0.002
18	14753019	T	C	18	14753020	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.71495267734267E-6	0.002
18	14753019	T	G	18	14753020	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.39675576709508E-5	0.002
18	14754886	G	A	18	14754887	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14007104056991E-5	0.014
18	14754886	G	C	18	14754887	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.47517097372227E-5	0.002
18	14754886	G	T	18	14754887	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.31875871494688E-5	0.006
18	14754887	C	A	18	14754888	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.49002237316939E-5	0.006
18	14754887	C	G	18	14754888	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34852860845865E-4	0.036
18	14754887	C	T	18	14754888	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.65047354028333E-5	0.0
18	14754888	T	A	18	14754889	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0112927768419761	0.268
18	14754888	T	C	18	14754889	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60661874173472E-5	0.002
18	14754888	T	G	18	14754889	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00977591190190649	0.424
18	14754889	A	C	18	14754890	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.66453194070416E-5	0.006
18	14754889	A	G	18	14754890	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.90477201184986E-5	0.0
18	14754889	A	T	18	14754890	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.47226774734786E-5	0.0
18	14754890	T	A	18	14754891	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00475417521910457	0.128
18	14754890	T	C	18	14754891	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.89914501626968E-5	0.006
18	14754890	T	G	18	14754891	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999696184622125	0.976
18	14754891	T	A	18	14754892	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0337004057312257	0.206
18	14754891	T	C	18	14754892	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.00017920250441E-4	0.05
18	14754891	T	G	18	14754892	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.195454720719113	0.214
18	14754892	T	A	18	14754893	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.78724811997508	0.484
18	14754892	T	C	18	14754893	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.83680117544465E-4	0.02
18	14754892	T	G	18	14754893	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.761609137499896	0.49
18	14754893	T	A	18	14754894	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0578173567081548	0.414
18	14754893	T	C	18	14754894	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.94543381201722E-4	0.064
18	14754893	T	G	18	14754894	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.632040869504656	0.384
18	14754894	A	C	18	14754895	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.09740216807318E-6	0.0
18	14754894	A	G	18	14754895	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.69307272413568E-5	0.002
18	14754894	A	T	18	14754895	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.06518032003427E-5	0.006
18	14754895	C	A	18	14754896	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.71918892915629	0.608
18	14754895	C	G	18	14754896	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999736484784215	0.88
18	14754895	C	T	18	14754896	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00352100616913739	0.208
18	14754896	A	C	18	14754897	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.511-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.511-2A>C;ENST00000580206:exon4:c.511-2A>C;ENST00000447268:exon4:c.511-2A>C)	.	.	0.99996947969426	0.672
18	14754896	A	G	18	14754897	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.511-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.511-2A>G;ENST00000580206:exon4:c.511-2A>G;ENST00000447268:exon4:c.511-2A>G)	.	.	0.99996947969426	0.672
18	14754896	A	T	18	14754897	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.511-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.511-2A>T;ENST00000580206:exon4:c.511-2A>T;ENST00000447268:exon4:c.511-2A>T)	.	.	0.99996947969426	0.676
18	14754897	G	A	18	14754898	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.511-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.511-1G>A;ENST00000580206:exon4:c.511-1G>A;ENST00000447268:exon4:c.511-1G>A)	.	.	0.999973093631733	0.68
18	14754897	G	C	18	14754898	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.511-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.511-1G>C;ENST00000580206:exon4:c.511-1G>C;ENST00000447268:exon4:c.511-1G>C)	.	.	0.999973093631733	0.664
18	14754897	G	T	18	14754898	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.511-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.511-1G>T;ENST00000580206:exon4:c.511-1G>T;ENST00000447268:exon4:c.511-1G>T)	.	.	0.999973093631733	0.668
18	14754898	G	A	18	14754899	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.G511A:p.A171T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.G511A:p.A171T;ENSG00000180777:ENST00000358984:exon4:c.G511A:p.A171T;ENSG00000180777:ENST00000447268:exon4:c.G511A:p.A171T;	0.0010339313101763	0.162
18	14754898	G	C	18	14754899	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.G511C:p.A171P;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.G511C:p.A171P;ENSG00000180777:ENST00000358984:exon4:c.G511C:p.A171P;ENSG00000180777:ENST00000447268:exon4:c.G511C:p.A171P;	0.012662762370748	0.29
18	14754898	G	T	18	14754899	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.G511T:p.A171S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.G511T:p.A171S;ENSG00000180777:ENST00000358984:exon4:c.G511T:p.A171S;ENSG00000180777:ENST00000447268:exon4:c.G511T:p.A171S;	0.0439668853783451	0.528
18	14754899	C	A	18	14754900	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.C512A:p.A171D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.C512A:p.A171D;ENSG00000180777:ENST00000358984:exon4:c.C512A:p.A171D;ENSG00000180777:ENST00000447268:exon4:c.C512A:p.A171D;	2.0358919788464E-5	0.046
18	14754899	C	G	18	14754900	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.C512G:p.A171G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.C512G:p.A171G;ENSG00000180777:ENST00000358984:exon4:c.C512G:p.A171G;ENSG00000180777:ENST00000447268:exon4:c.C512G:p.A171G;	2.08530454338186E-5	0.002
18	14754899	C	T	18	14754900	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.C512T:p.A171V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.C512T:p.A171V;ENSG00000180777:ENST00000358984:exon4:c.C512T:p.A171V;ENSG00000180777:ENST00000447268:exon4:c.C512T:p.A171V;	4.31927244050941E-5	0.0
18	14755002	A	C	18	14755003	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.A615C:p.K205N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.A615C:p.K205N;ENSG00000180777:ENST00000358984:exon4:c.A615C:p.K205N;ENSG00000180777:ENST00000447268:exon4:c.A615C:p.K205N;	3.092314299388E-4	0.002
18	14755002	A	G	18	14755003	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon4:c.A615G:p.K205K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.A615G:p.K205K;ENSG00000180777:ENST00000358984:exon4:c.A615G:p.K205K;ENSG00000180777:ENST00000447268:exon4:c.A615G:p.K205K;	3.15251155469756E-4	0.058
18	14755002	A	T	18	14755003	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.A615T:p.K205N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.A615T:p.K205N;ENSG00000180777:ENST00000358984:exon4:c.A615T:p.K205N;ENSG00000180777:ENST00000447268:exon4:c.A615T:p.K205N;	0.00762593144635033	0.21
18	14755003	T	A	18	14755004	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.T616A:p.C206S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.T616A:p.C206S;ENSG00000180777:ENST00000358984:exon4:c.T616A:p.C206S;ENSG00000180777:ENST00000447268:exon4:c.T616A:p.C206S;	1.58225241942734E-4	0.222
18	14755003	T	C	18	14755004	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.T616C:p.C206R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.T616C:p.C206R;ENSG00000180777:ENST00000358984:exon4:c.T616C:p.C206R;ENSG00000180777:ENST00000447268:exon4:c.T616C:p.C206R;	6.6654927875066E-5	0.058
18	14755003	T	G	18	14755004	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.T616G:p.C206G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.T616G:p.C206G;ENSG00000180777:ENST00000358984:exon4:c.T616G:p.C206G;ENSG00000180777:ENST00000447268:exon4:c.T616G:p.C206G;	2.54027020776395E-4	0.03
18	14755004	G	A	18	14755005	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.G617A:p.C206Y;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.G617A:p.C206Y;ENSG00000180777:ENST00000358984:exon4:c.G617A:p.C206Y;ENSG00000180777:ENST00000447268:exon4:c.G617A:p.C206Y;	0.999992477525433	0.984
18	14755004	G	C	18	14755005	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.G617C:p.C206S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.G617C:p.C206S;ENSG00000180777:ENST00000358984:exon4:c.G617C:p.C206S;ENSG00000180777:ENST00000447268:exon4:c.G617C:p.C206S;	0.999992091671616	0.934
18	14755004	G	T	18	14755005	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon4:c.G617T:p.C206F;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon4:c.G617T:p.C206F;ENSG00000180777:ENST00000358984:exon4:c.G617T:p.C206F;ENSG00000180777:ENST00000447268:exon4:c.G617T:p.C206F;	0.999975344592388	0.984
18	14755005	G	A	18	14755006	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.617+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.617+1G>A;ENST00000580206:exon4:c.617+1G>A;ENST00000447268:exon4:c.617+1G>A)	.	.	0.999973093631733	0.752
18	14755005	G	C	18	14755006	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.617+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.617+1G>C;ENST00000580206:exon4:c.617+1G>C;ENST00000447268:exon4:c.617+1G>C)	.	.	0.999973093631733	0.756
18	14755005	G	T	18	14755006	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.617+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.617+1G>T;ENST00000580206:exon4:c.617+1G>T;ENST00000447268:exon4:c.617+1G>T)	.	.	0.999973093631733	0.76
18	14755006	T	A	18	14755007	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.617+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.617+2T>A;ENST00000580206:exon4:c.617+2T>A;ENST00000447268:exon4:c.617+2T>A)	.	.	0.999447525635977	0.56
18	14755006	T	C	18	14755007	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.617+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.617+2T>C;ENST00000580206:exon4:c.617+2T>C;ENST00000447268:exon4:c.617+2T>C)	.	.	0.929485267341404	0.572
18	14755006	T	G	18	14755007	y	y	splicing	ANKRD30B(NM_001145029:exon4:c.617+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon4:c.617+2T>G;ENST00000580206:exon4:c.617+2T>G;ENST00000447268:exon4:c.617+2T>G)	.	.	0.999447525635977	0.556
18	14755007	A	C	18	14755008	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999488600957098	0.776
18	14755007	A	G	18	14755008	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.955992982051298	0.67
18	14755007	A	T	18	14755008	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999912780202974	0.856
18	14755008	T	A	18	14755009	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.28709522290395E-5	0.192
18	14755008	T	C	18	14755009	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.82423370345667E-5	0.014
18	14755008	T	G	18	14755009	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.02978710505698E-5	0.094
18	14755009	G	A	18	14755010	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.755282857384357	0.298
18	14755009	G	C	18	14755010	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.835368786859096	0.334
18	14755009	G	T	18	14755010	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.654007745815208	0.304
18	14755010	G	A	18	14755011	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.00749949512478E-4	0.034
18	14755010	G	C	18	14755011	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.0079448519427E-4	0.102
18	14755010	G	T	18	14755011	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.84174571090139E-4	0.018
18	14755011	T	A	18	14755012	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.77362978149863E-4	0.012
18	14755011	T	C	18	14755012	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.77362978149863E-4	0.062
18	14755011	T	G	18	14755012	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.97384250612882E-4	0.068
18	14755012	A	C	18	14755013	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.24858758480964E-6	0.002
18	14755012	A	G	18	14755013	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.56300278661031E-6	0.002
18	14755012	A	T	18	14755013	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.48537499622246E-6	0.002
18	14757802	T	A	18	14757803	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0126480546760639	0.368
18	14757802	T	C	18	14757803	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.7365149033777E-5	0.0
18	14757802	T	G	18	14757803	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00276431755950976	0.304
18	14757803	T	A	18	14757804	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999867013026222	0.93
18	14757803	T	C	18	14757804	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.41394654334861E-4	0.172
18	14757803	T	G	18	14757804	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.657938133695088	0.558
18	14757804	G	A	18	14757805	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.88280331132151E-4	0.022
18	14757804	G	C	18	14757805	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.12056937861213E-4	0.014
18	14757804	G	T	18	14757805	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.30284763104581E-4	0.018
18	14757805	T	A	18	14757806	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0724081146038925	0.344
18	14757805	T	C	18	14757806	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.92000573816802E-4	0.054
18	14757805	T	G	18	14757806	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0340631242086637	0.36
18	14757806	T	A	18	14757807	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0180574035135349	0.182
18	14757806	T	C	18	14757807	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.9516506287378E-5	0.058
18	14757806	T	G	18	14757807	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00191984987931961	0.234
18	14757807	A	C	18	14757808	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.17904859037363E-4	0.032
18	14757807	A	G	18	14757808	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60536808775237E-4	0.038
18	14757807	A	T	18	14757808	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.95243030242626E-4	0.022
18	14757808	T	A	18	14757809	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.134257372647171	0.34
18	14757808	T	C	18	14757809	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.29648703319444E-4	0.154
18	14757808	T	G	18	14757809	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999857254737321	0.932
18	14757809	T	A	18	14757810	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.971422572815722	0.518
18	14757809	T	C	18	14757810	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00185584389927687	0.154
18	14757809	T	G	18	14757810	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.982810603101713	0.524
18	14757810	T	A	18	14757811	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.53385538035502E-4	0.028
18	14757810	T	C	18	14757811	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.61006059116731E-4	0.05
18	14757810	T	G	18	14757811	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.8713093182026E-4	0.076
18	14757811	T	A	18	14757812	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00533989990779086	0.31
18	14757811	T	C	18	14757812	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.80281341098012E-4	0.082
18	14757811	T	G	18	14757812	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99337559049516	0.71
18	14757812	A	C	18	14757813	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.618-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.618-2A>C;ENST00000580206:exon5:c.618-2A>C;ENST00000447268:exon5:c.618-2A>C)	.	.	0.99996947969426	0.718
18	14757812	A	G	18	14757813	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.618-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.618-2A>G;ENST00000580206:exon5:c.618-2A>G;ENST00000447268:exon5:c.618-2A>G)	.	.	0.99996947969426	0.716
18	14757812	A	T	18	14757813	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.618-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.618-2A>T;ENST00000580206:exon5:c.618-2A>T;ENST00000447268:exon5:c.618-2A>T)	.	.	0.99996947969426	0.726
18	14757813	G	A	18	14757814	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.618-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.618-1G>A;ENST00000580206:exon5:c.618-1G>A;ENST00000447268:exon5:c.618-1G>A)	.	.	0.99996947969426	0.658
18	14757813	G	C	18	14757814	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.618-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.618-1G>C;ENST00000580206:exon5:c.618-1G>C;ENST00000447268:exon5:c.618-1G>C)	.	.	0.99996947969426	0.664
18	14757813	G	T	18	14757814	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.618-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.618-1G>T;ENST00000580206:exon5:c.618-1G>T;ENST00000447268:exon5:c.618-1G>T)	.	.	0.99996947969426	0.652
18	14757814	C	A	18	14757815	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon5:c.C618A:p.C206X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon5:c.C618A:p.C206X;ENSG00000180777:ENST00000358984:exon5:c.C618A:p.C206X;ENSG00000180777:ENST00000447268:exon5:c.C618A:p.C206X;	1.92513763888431E-4	0.016
18	14757814	C	G	18	14757815	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.C618G:p.C206W;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.C618G:p.C206W;ENSG00000180777:ENST00000358984:exon5:c.C618G:p.C206W;ENSG00000180777:ENST00000447268:exon5:c.C618G:p.C206W;	8.5631354811164E-4	0.228
18	14757814	C	T	18	14757815	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon5:c.C618T:p.C206C;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.C618T:p.C206C;ENSG00000180777:ENST00000358984:exon5:c.C618T:p.C206C;ENSG00000180777:ENST00000447268:exon5:c.C618T:p.C206C;	3.54246552937472E-5	0.036
18	14757815	A	C	18	14757816	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.A619C:p.T207P;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.A619C:p.T207P;ENSG00000180777:ENST00000358984:exon5:c.A619C:p.T207P;ENSG00000180777:ENST00000447268:exon5:c.A619C:p.T207P;	0.00135310444654845	0.02
18	14757815	A	G	18	14757816	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.A619G:p.T207A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.A619G:p.T207A;ENSG00000180777:ENST00000358984:exon5:c.A619G:p.T207A;ENSG00000180777:ENST00000447268:exon5:c.A619G:p.T207A;	0.00144448657872069	0.016
18	14757815	A	T	18	14757816	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.A619T:p.T207S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.A619T:p.T207S;ENSG00000180777:ENST00000358984:exon5:c.A619T:p.T207S;ENSG00000180777:ENST00000447268:exon5:c.A619T:p.T207S;	8.7721144242635E-4	0.006
18	14757949	T	A	18	14757950	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.T753A:p.N251K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.T753A:p.N251K;ENSG00000180777:ENST00000358984:exon5:c.T753A:p.N251K;ENSG00000180777:ENST00000447268:exon5:c.T753A:p.N251K;	0.00126711956122173	0.004
18	14757949	T	C	18	14757950	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon5:c.T753C:p.N251N;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.T753C:p.N251N;ENSG00000180777:ENST00000358984:exon5:c.T753C:p.N251N;ENSG00000180777:ENST00000447268:exon5:c.T753C:p.N251N;	5.34205259533941E-4	0.008
18	14757949	T	G	18	14757950	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.T753G:p.N251K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.T753G:p.N251K;ENSG00000180777:ENST00000358984:exon5:c.T753G:p.N251K;ENSG00000180777:ENST00000447268:exon5:c.T753G:p.N251K;	9.04970385071134E-4	0.02
18	14757950	T	A	18	14757951	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.T754A:p.Y252N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.T754A:p.Y252N;ENSG00000180777:ENST00000358984:exon5:c.T754A:p.Y252N;ENSG00000180777:ENST00000447268:exon5:c.T754A:p.Y252N;	4.42556516960828E-5	0.104
18	14757950	T	C	18	14757951	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.T754C:p.Y252H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.T754C:p.Y252H;ENSG00000180777:ENST00000358984:exon5:c.T754C:p.Y252H;ENSG00000180777:ENST00000447268:exon5:c.T754C:p.Y252H;	2.60033700354665E-5	0.002
18	14757950	T	G	18	14757951	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.T754G:p.Y252D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.T754G:p.Y252D;ENSG00000180777:ENST00000358984:exon5:c.T754G:p.Y252D;ENSG00000180777:ENST00000447268:exon5:c.T754G:p.Y252D;	1.46090259760499E-5	0.03
18	14757951	A	C	18	14757952	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.A755C:p.Y252S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.A755C:p.Y252S;ENSG00000180777:ENST00000358984:exon5:c.A755C:p.Y252S;ENSG00000180777:ENST00000447268:exon5:c.A755C:p.Y252S;	3.65006480223644E-5	0.022
18	14757951	A	G	18	14757952	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.A755G:p.Y252C;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.A755G:p.Y252C;ENSG00000180777:ENST00000358984:exon5:c.A755G:p.Y252C;ENSG00000180777:ENST00000447268:exon5:c.A755G:p.Y252C;	2.21233882859586E-5	0.03
18	14757951	A	T	18	14757952	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon5:c.A755T:p.Y252F;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon5:c.A755T:p.Y252F;ENSG00000180777:ENST00000358984:exon5:c.A755T:p.Y252F;ENSG00000180777:ENST00000447268:exon5:c.A755T:p.Y252F;	1.32383988566441E-4	0.042
18	14757952	G	A	18	14757953	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.755+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.755+1G>A;ENST00000580206:exon5:c.755+1G>A;ENST00000447268:exon5:c.755+1G>A)	.	.	0.998382992678187	0.48
18	14757952	G	C	18	14757953	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.755+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.755+1G>C;ENST00000580206:exon5:c.755+1G>C;ENST00000447268:exon5:c.755+1G>C)	.	.	0.998382992678187	0.478
18	14757952	G	T	18	14757953	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.755+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.755+1G>T;ENST00000580206:exon5:c.755+1G>T;ENST00000447268:exon5:c.755+1G>T)	.	.	0.998382992678187	0.478
18	14757953	T	A	18	14757954	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.755+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.755+2T>A;ENST00000580206:exon5:c.755+2T>A;ENST00000447268:exon5:c.755+2T>A)	.	.	0.99996947969426	0.754
18	14757953	T	C	18	14757954	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.755+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.755+2T>C;ENST00000580206:exon5:c.755+2T>C;ENST00000447268:exon5:c.755+2T>C)	.	.	0.994540268146397	0.618
18	14757953	T	G	18	14757954	y	y	splicing	ANKRD30B(NM_001145029:exon5:c.755+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon5:c.755+2T>G;ENST00000580206:exon5:c.755+2T>G;ENST00000447268:exon5:c.755+2T>G)	.	.	0.99996947969426	0.74
18	14757954	A	C	18	14757955	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999231453830988	0.856
18	14757954	A	G	18	14757955	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00387385628162551	0.162
18	14757954	A	T	18	14757955	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999322026617149	0.858
18	14757955	A	C	18	14757956	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.985199944722809	0.672
18	14757955	A	G	18	14757956	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998286683282063	0.828
18	14757955	A	T	18	14757956	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993201793549273	0.81
18	14757956	G	A	18	14757957	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999984624557845	0.844
18	14757956	G	C	18	14757957	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999986778153886	0.872
18	14757956	G	T	18	14757957	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999965006715069	0.85
18	14757957	T	A	18	14757958	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.825329773279097	0.668
18	14757957	T	C	18	14757958	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.883865176517485	0.756
18	14757957	T	G	18	14757958	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.826661113347967	0.72
18	14757958	G	A	18	14757959	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.27947832845054E-6	0.018
18	14757958	G	C	18	14757959	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.04606049095208E-6	0.004
18	14757958	G	T	18	14757959	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.44022446136517E-5	0.054
18	14757959	T	A	18	14757960	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.10535695806286E-4	0.064
18	14757959	T	C	18	14757960	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.68477551486887E-4	0.064
18	14757959	T	G	18	14757960	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.26462488123452E-4	0.07
18	14760541	T	A	18	14760542	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0388993765413555	0.464
18	14760541	T	C	18	14760542	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14022630938833E-4	0.054
18	14760541	T	G	18	14760542	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00919422586628598	0.448
18	14760542	T	A	18	14760543	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.852530762868151	0.558
18	14760542	T	C	18	14760543	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00118200925369145	0.202
18	14760542	T	G	18	14760543	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.373819340242063	0.54
18	14760543	T	A	18	14760544	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0321320016007229	0.4
18	14760543	T	C	18	14760544	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.08729086990738E-5	0.05
18	14760543	T	G	18	14760544	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00623658322208071	0.396
18	14760544	T	A	18	14760545	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00277372531321026	0.296
18	14760544	T	C	18	14760545	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.95287800558649E-5	0.042
18	14760544	T	G	18	14760545	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0353829964992181	0.328
18	14760545	A	C	18	14760546	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.36676480420554E-4	0.06
18	14760545	A	G	18	14760546	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.25531078491103E-4	0.058
18	14760545	A	T	18	14760546	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.9327730132478E-4	0.054
18	14760546	T	A	18	14760547	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0952605181443424	0.318
18	14760546	T	C	18	14760547	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.35170378802566E-4	0.224
18	14760546	T	G	18	14760547	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999550588324373	0.692
18	14760547	A	C	18	14760548	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.20284995131868E-4	0.084
18	14760547	A	G	18	14760548	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.64560515399028E-4	0.108
18	14760547	A	T	18	14760548	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.00128284132496E-4	0.058
18	14760548	C	A	18	14760549	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.58651388626944E-4	0.184
18	14760548	C	G	18	14760549	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999733005570613	0.726
18	14760548	C	T	18	14760549	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.92276747396876E-5	0.108
18	14760549	A	C	18	14760550	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.8470246219058E-4	0.128
18	14760549	A	G	18	14760550	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.16492637622415E-4	0.02
18	14760549	A	T	18	14760550	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.16122959360054E-4	0.044
18	14760550	T	A	18	14760551	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.05494530462531	0.354
18	14760550	T	C	18	14760551	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.61388346104878E-4	0.11
18	14760550	T	G	18	14760551	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.923266652855844	0.642
18	14760551	A	C	18	14760552	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.756-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.756-2A>C;ENST00000580206:exon6:c.756-2A>C;ENST00000447268:exon6:c.756-2A>C)	.	.	0.999918350337376	0.604
18	14760551	A	G	18	14760552	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.756-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.756-2A>G;ENST00000580206:exon6:c.756-2A>G;ENST00000447268:exon6:c.756-2A>G)	.	.	0.999918350337376	0.604
18	14760551	A	T	18	14760552	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.756-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.756-2A>T;ENST00000580206:exon6:c.756-2A>T;ENST00000447268:exon6:c.756-2A>T)	.	.	0.999918350337376	0.606
18	14760552	G	A	18	14760553	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.756-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.756-1G>A;ENST00000580206:exon6:c.756-1G>A;ENST00000447268:exon6:c.756-1G>A)	.	.	0.999918350337376	0.626
18	14760552	G	C	18	14760553	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.756-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.756-1G>C;ENST00000580206:exon6:c.756-1G>C;ENST00000447268:exon6:c.756-1G>C)	.	.	0.999918350337376	0.622
18	14760552	G	T	18	14760553	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.756-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.756-1G>T;ENST00000580206:exon6:c.756-1G>T;ENST00000447268:exon6:c.756-1G>T)	.	.	0.999918350337376	0.622
18	14760553	C	A	18	14760554	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon6:c.C756A:p.Y252X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon6:c.C756A:p.Y252X;ENSG00000180777:ENST00000358984:exon6:c.C756A:p.Y252X;ENSG00000180777:ENST00000447268:exon6:c.C756A:p.Y252X;	1.73880581525021E-5	0.0
18	14760553	C	G	18	14760554	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon6:c.C756G:p.Y252X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon6:c.C756G:p.Y252X;ENSG00000180777:ENST00000358984:exon6:c.C756G:p.Y252X;ENSG00000180777:ENST00000447268:exon6:c.C756G:p.Y252X;	3.95292858397225E-5	0.086
18	14760553	C	T	18	14760554	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon6:c.C756T:p.Y252Y;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.C756T:p.Y252Y;ENSG00000180777:ENST00000358984:exon6:c.C756T:p.Y252Y;ENSG00000180777:ENST00000447268:exon6:c.C756T:p.Y252Y;	2.17616187140133E-5	0.042
18	14760554	A	C	18	14760555	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon6:c.A757C:p.I253L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.A757C:p.I253L;ENSG00000180777:ENST00000358984:exon6:c.A757C:p.I253L;ENSG00000180777:ENST00000447268:exon6:c.A757C:p.I253L;	1.28398457131006E-4	0.018
18	14760554	A	G	18	14760555	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon6:c.A757G:p.I253V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.A757G:p.I253V;ENSG00000180777:ENST00000358984:exon6:c.A757G:p.I253V;ENSG00000180777:ENST00000447268:exon6:c.A757G:p.I253V;	2.82967780668709E-4	0.02
18	14760554	A	T	18	14760555	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon6:c.A757T:p.I253F;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.A757T:p.I253F;ENSG00000180777:ENST00000358984:exon6:c.A757T:p.I253F;ENSG00000180777:ENST00000447268:exon6:c.A757T:p.I253F;	3.80859121058955E-4	0.008
18	14760615	C	A	18	14760616	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon6:c.C818A:p.P273Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.C818A:p.P273Q;ENSG00000180777:ENST00000358984:exon6:c.C818A:p.P273Q;ENSG00000180777:ENST00000447268:exon6:c.C818A:p.P273Q;	8.67000537530966E-5	0.032
18	14760615	C	G	18	14760616	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon6:c.C818G:p.P273R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.C818G:p.P273R;ENSG00000180777:ENST00000358984:exon6:c.C818G:p.P273R;ENSG00000180777:ENST00000447268:exon6:c.C818G:p.P273R;	3.60913020666766E-5	0.002
18	14760615	C	T	18	14760616	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon6:c.C818T:p.P273L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.C818T:p.P273L;ENSG00000180777:ENST00000358984:exon6:c.C818T:p.P273L;ENSG00000180777:ENST00000447268:exon6:c.C818T:p.P273L;	7.04614434555253E-4	0.052
18	14760616	A	C	18	14760617	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon6:c.A819C:p.P273P;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.A819C:p.P273P;ENSG00000180777:ENST00000358984:exon6:c.A819C:p.P273P;ENSG00000180777:ENST00000447268:exon6:c.A819C:p.P273P;	0.00850644409168774	0.358
18	14760616	A	G	18	14760617	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon6:c.A819G:p.P273P;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.A819G:p.P273P;ENSG00000180777:ENST00000358984:exon6:c.A819G:p.P273P;ENSG00000180777:ENST00000447268:exon6:c.A819G:p.P273P;	0.00901408909944356	0.238
18	14760616	A	T	18	14760617	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon6:c.A819T:p.P273P;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.A819T:p.P273P;ENSG00000180777:ENST00000358984:exon6:c.A819T:p.P273P;ENSG00000180777:ENST00000447268:exon6:c.A819T:p.P273P;	0.00995022345109999	0.278
18	14760617	G	A	18	14760618	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon6:c.G820A:p.E274K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.G820A:p.E274K;ENSG00000180777:ENST00000358984:exon6:c.G820A:p.E274K;ENSG00000180777:ENST00000447268:exon6:c.G820A:p.E274K;	0.958930570731457	0.794
18	14760617	G	C	18	14760618	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon6:c.G820C:p.E274Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon6:c.G820C:p.E274Q;ENSG00000180777:ENST00000358984:exon6:c.G820C:p.E274Q;ENSG00000180777:ENST00000447268:exon6:c.G820C:p.E274Q;	0.994267616785559	0.742
18	14760617	G	T	18	14760618	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon6:c.G820T:p.E274X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon6:c.G820T:p.E274X;ENSG00000180777:ENST00000358984:exon6:c.G820T:p.E274X;ENSG00000180777:ENST00000447268:exon6:c.G820T:p.E274X;	0.993981697126791	0.882
18	14760618	G	A	18	14760619	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.820+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.820+1G>A;ENST00000580206:exon6:c.820+1G>A;ENST00000447268:exon6:c.820+1G>A)	.	.	0.999973093631733	0.766
18	14760618	G	C	18	14760619	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.820+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.820+1G>C;ENST00000580206:exon6:c.820+1G>C;ENST00000447268:exon6:c.820+1G>C)	.	.	0.999973093631733	0.752
18	14760618	G	T	18	14760619	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.820+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.820+1G>T;ENST00000580206:exon6:c.820+1G>T;ENST00000447268:exon6:c.820+1G>T)	.	.	0.999973093631733	0.754
18	14760619	T	A	18	14760620	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.820+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.820+2T>A;ENST00000580206:exon6:c.820+2T>A;ENST00000447268:exon6:c.820+2T>A)	.	.	0.99996947969426	0.774
18	14760619	T	C	18	14760620	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.820+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.820+2T>C;ENST00000580206:exon6:c.820+2T>C;ENST00000447268:exon6:c.820+2T>C)	.	.	0.94768146540498	0.462
18	14760619	T	G	18	14760620	y	y	splicing	ANKRD30B(NM_001145029:exon6:c.820+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon6:c.820+2T>G;ENST00000580206:exon6:c.820+2T>G;ENST00000447268:exon6:c.820+2T>G)	.	.	0.99996947969426	0.77
18	14760620	A	C	18	14760621	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.756123797565434	0.61
18	14760620	A	G	18	14760621	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00823867766815141	0.132
18	14760620	A	T	18	14760621	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.958959618192188	0.63
18	14760621	A	C	18	14760622	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0180210419168987	0.384
18	14760621	A	G	18	14760622	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0421010595838933	0.422
18	14760621	A	T	18	14760622	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0605801079822415	0.4
18	14760622	G	A	18	14760623	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.932740731009044	0.566
18	14760622	G	C	18	14760623	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.713232738124222	0.522
18	14760622	G	T	18	14760623	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.818577418995649	0.522
18	14760623	A	C	18	14760624	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.42301396177102E-5	0.012
18	14760623	A	G	18	14760624	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.16540565939624E-5	0.0
18	14760623	A	T	18	14760624	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.12390728439834E-5	0.01
18	14760624	C	A	18	14760625	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.02825072488338E-5	0.002
18	14760624	C	G	18	14760625	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.90177193295887E-6	0.002
18	14760624	C	T	18	14760625	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1124933177438E-5	0.002
18	14760625	T	A	18	14760626	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.92786444512075E-5	0.002
18	14760625	T	C	18	14760626	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.33609814332191E-5	0.002
18	14760625	T	G	18	14760626	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.78667633506325E-5	0.002
18	14763673	T	A	18	14763674	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.828623361717941	0.648
18	14763673	T	C	18	14763674	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.36666091177024E-5	0.068
18	14763673	T	G	18	14763674	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00586426669832756	0.306
18	14763674	G	A	18	14763675	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.068424651196E-4	0.096
18	14763674	G	C	18	14763675	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.79051624594947E-5	0.192
18	14763674	G	T	18	14763675	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.33845452121225E-5	0.022
18	14763675	T	A	18	14763676	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999091319045051	0.938
18	14763675	T	C	18	14763676	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.011795500804E-4	0.052
18	14763675	T	G	18	14763676	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.337229207651993	0.53
18	14763676	G	A	18	14763677	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00322874877472209	0.11
18	14763676	G	C	18	14763677	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.64232344277377E-5	0.034
18	14763676	G	T	18	14763677	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.14915368967759E-5	0.048
18	14763677	T	A	18	14763678	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0955302293838302	0.522
18	14763677	T	C	18	14763678	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.70829893386126E-5	0.016
18	14763677	T	G	18	14763678	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0181249496933988	0.482
18	14763678	T	A	18	14763679	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00106666515602766	0.166
18	14763678	T	C	18	14763679	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.00103179276266E-5	0.016
18	14763678	T	G	18	14763679	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.14714076282604E-4	0.164
18	14763679	T	A	18	14763680	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998548000896939	0.96
18	14763679	T	C	18	14763680	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.79650286649621E-5	0.02
18	14763679	T	G	18	14763680	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.175025171267764	0.5
18	14763680	G	A	18	14763681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.91443616906356	0.802
18	14763680	G	C	18	14763681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.66592276849735E-4	0.066
18	14763680	G	T	18	14763681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.93732315078126E-4	0.07
18	14763681	G	A	18	14763682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.53172194910233E-5	0.024
18	14763681	G	C	18	14763682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.72496869342861E-5	0.032
18	14763681	G	T	18	14763682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.40666116585909E-4	0.05
18	14763682	C	A	18	14763683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.96753966167618	0.766
18	14763682	C	G	18	14763683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.988155746722625	0.674
18	14763682	C	T	18	14763683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.257413977403766	0.336
18	14763683	A	C	18	14763684	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.821-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.821-2A>C;ENST00000580206:exon7:c.821-2A>C;ENST00000447268:exon7:c.821-2A>C)	.	.	0.999767403525902	0.684
18	14763683	A	G	18	14763684	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.821-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.821-2A>G;ENST00000580206:exon7:c.821-2A>G;ENST00000447268:exon7:c.821-2A>G)	.	.	0.999767403525902	0.68
18	14763683	A	T	18	14763684	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.821-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.821-2A>T;ENST00000580206:exon7:c.821-2A>T;ENST00000447268:exon7:c.821-2A>T)	.	.	0.999767403525902	0.704
18	14763684	G	A	18	14763685	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.821-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.821-1G>A;ENST00000580206:exon7:c.821-1G>A;ENST00000447268:exon7:c.821-1G>A)	.	.	0.999625120151861	0.68
18	14763684	G	C	18	14763685	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.821-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.821-1G>C;ENST00000580206:exon7:c.821-1G>C;ENST00000447268:exon7:c.821-1G>C)	.	.	0.999625120151861	0.672
18	14763684	G	T	18	14763685	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.821-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.821-1G>T;ENST00000580206:exon7:c.821-1G>T;ENST00000447268:exon7:c.821-1G>T)	.	.	0.999625120151861	0.68
18	14763685	A	C	18	14763686	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.A821C:p.E274A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A821C:p.E274A;ENSG00000180777:ENST00000358984:exon7:c.A821C:p.E274A;ENSG00000180777:ENST00000447268:exon7:c.A821C:p.E274A;	0.00193761218526972	0.118
18	14763685	A	G	18	14763686	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.A821G:p.E274G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A821G:p.E274G;ENSG00000180777:ENST00000358984:exon7:c.A821G:p.E274G;ENSG00000180777:ENST00000447268:exon7:c.A821G:p.E274G;	1.33401694221302E-4	0.004
18	14763685	A	T	18	14763686	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.A821T:p.E274V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A821T:p.E274V;ENSG00000180777:ENST00000358984:exon7:c.A821T:p.E274V;ENSG00000180777:ENST00000447268:exon7:c.A821T:p.E274V;	0.00443166768509098	0.078
18	14763686	A	C	18	14763687	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.A822C:p.E274D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A822C:p.E274D;ENSG00000180777:ENST00000358984:exon7:c.A822C:p.E274D;ENSG00000180777:ENST00000447268:exon7:c.A822C:p.E274D;	8.00485876552065E-4	0.138
18	14763686	A	G	18	14763687	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon7:c.A822G:p.E274E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A822G:p.E274E;ENSG00000180777:ENST00000358984:exon7:c.A822G:p.E274E;ENSG00000180777:ENST00000447268:exon7:c.A822G:p.E274E;	3.31027433922687E-5	0.018
18	14763686	A	T	18	14763687	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.A822T:p.E274D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A822T:p.E274D;ENSG00000180777:ENST00000358984:exon7:c.A822T:p.E274D;ENSG00000180777:ENST00000447268:exon7:c.A822T:p.E274D;	0.00142023683566319	0.082
18	14764087	A	C	18	14764088	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.A1223C:p.N408T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A1223C:p.N408T;ENSG00000180777:ENST00000358984:exon7:c.A1223C:p.N408T;ENSG00000180777:ENST00000447268:exon7:c.A1223C:p.N408T;	2.88961730858078E-4	0.004
18	14764087	A	G	18	14764088	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.A1223G:p.N408S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A1223G:p.N408S;ENSG00000180777:ENST00000358984:exon7:c.A1223G:p.N408S;ENSG00000180777:ENST00000447268:exon7:c.A1223G:p.N408S;	3.28097454825429E-4	0.006
18	14764087	A	T	18	14764088	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.A1223T:p.N408I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.A1223T:p.N408I;ENSG00000180777:ENST00000358984:exon7:c.A1223T:p.N408I;ENSG00000180777:ENST00000447268:exon7:c.A1223T:p.N408I;	0.00171337530310911	0.11
18	14764088	T	A	18	14764089	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.T1224A:p.N408K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.T1224A:p.N408K;ENSG00000180777:ENST00000358984:exon7:c.T1224A:p.N408K;ENSG00000180777:ENST00000447268:exon7:c.T1224A:p.N408K;	1.70301106622804E-4	0.154
18	14764088	T	C	18	14764089	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon7:c.T1224C:p.N408N;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.T1224C:p.N408N;ENSG00000180777:ENST00000358984:exon7:c.T1224C:p.N408N;ENSG00000180777:ENST00000447268:exon7:c.T1224C:p.N408N;	9.72819587859255E-6	0.004
18	14764088	T	G	18	14764089	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.T1224G:p.N408K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.T1224G:p.N408K;ENSG00000180777:ENST00000358984:exon7:c.T1224G:p.N408K;ENSG00000180777:ENST00000447268:exon7:c.T1224G:p.N408K;	4.1665944357996E-5	0.006
18	14764089	G	A	18	14764090	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.G1225A:p.V409M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.G1225A:p.V409M;ENSG00000180777:ENST00000358984:exon7:c.G1225A:p.V409M;ENSG00000180777:ENST00000447268:exon7:c.G1225A:p.V409M;	0.998659104737688	0.89
18	14764089	G	C	18	14764090	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.G1225C:p.V409L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.G1225C:p.V409L;ENSG00000180777:ENST00000358984:exon7:c.G1225C:p.V409L;ENSG00000180777:ENST00000447268:exon7:c.G1225C:p.V409L;	0.999674746379283	0.762
18	14764089	G	T	18	14764090	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon7:c.G1225T:p.V409L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon7:c.G1225T:p.V409L;ENSG00000180777:ENST00000358984:exon7:c.G1225T:p.V409L;ENSG00000180777:ENST00000447268:exon7:c.G1225T:p.V409L;	0.999812106374822	0.858
18	14764090	G	A	18	14764091	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.1225+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.1225+1G>A;ENST00000580206:exon7:c.1225+1G>A;ENST00000447268:exon7:c.1225+1G>A)	.	.	0.999894885219664	0.53
18	14764090	G	C	18	14764091	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.1225+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.1225+1G>C;ENST00000580206:exon7:c.1225+1G>C;ENST00000447268:exon7:c.1225+1G>C)	.	.	0.999894885219664	0.548
18	14764090	G	T	18	14764091	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.1225+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.1225+1G>T;ENST00000580206:exon7:c.1225+1G>T;ENST00000447268:exon7:c.1225+1G>T)	.	.	0.999894885219664	0.54
18	14764091	T	A	18	14764092	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.1225+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.1225+2T>A;ENST00000580206:exon7:c.1225+2T>A;ENST00000447268:exon7:c.1225+2T>A)	.	.	0.999968624618023	0.734
18	14764091	T	C	18	14764092	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.1225+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.1225+2T>C;ENST00000580206:exon7:c.1225+2T>C;ENST00000447268:exon7:c.1225+2T>C)	.	.	0.999015942909952	0.704
18	14764091	T	G	18	14764092	y	y	splicing	ANKRD30B(NM_001145029:exon7:c.1225+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon7:c.1225+2T>G;ENST00000580206:exon7:c.1225+2T>G;ENST00000447268:exon7:c.1225+2T>G)	.	.	0.999968624618023	0.734
18	14764092	A	C	18	14764093	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.988324305987309	0.834
18	14764092	A	G	18	14764093	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00716921672636075	0.236
18	14764092	A	T	18	14764093	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.980693872680322	0.78
18	14764093	A	C	18	14764094	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.408842169484405	0.494
18	14764093	A	G	18	14764094	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.872715587222813	0.576
18	14764093	A	T	18	14764094	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.92071017165649	0.6
18	14764094	G	A	18	14764095	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.995673132987333	0.676
18	14764094	G	C	18	14764095	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998873114856758	0.702
18	14764094	G	T	18	14764095	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.989399835763793	0.556
18	14764095	A	C	18	14764096	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.60754051103563E-4	0.022
18	14764095	A	G	18	14764096	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.3204113129851E-5	0.008
18	14764095	A	T	18	14764096	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.86809437808268E-5	0.018
18	14764096	T	A	18	14764097	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.70659417257392E-6	0.002
18	14764096	T	C	18	14764097	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.63659710048458E-6	0.002
18	14764096	T	G	18	14764097	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.63659710048458E-6	0.002
18	14764097	G	A	18	14764098	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.63659710048458E-6	0.004
18	14764097	G	C	18	14764098	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.63659710048458E-6	0.002
18	14764097	G	T	18	14764098	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.63659710048458E-6	0.002
18	14769330	T	A	18	14769331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.83154263369734E-4	0.176
18	14769330	T	C	18	14769331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.06569400407957E-4	0.018
18	14769330	T	G	18	14769331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.99784462409032E-4	0.206
18	14769331	T	A	18	14769332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00501110955563532	0.29
18	14769331	T	C	18	14769332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00158657141957879	0.102
18	14769331	T	G	18	14769332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0023790310095307	0.354
18	14769332	T	A	18	14769333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.010046087922184	0.158
18	14769332	T	C	18	14769333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.94155473726449E-4	0.03
18	14769332	T	G	18	14769333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00251653995029445	0.14
18	14769333	C	A	18	14769334	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.676211968181E-4	0.112
18	14769333	C	G	18	14769334	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.91831665082946E-4	0.014
18	14769333	C	T	18	14769334	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.42810928223914E-5	0.0
18	14769334	T	A	18	14769335	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.04313145054612E-4	0.1
18	14769334	T	C	18	14769335	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.22899181717037E-5	0.034
18	14769334	T	G	18	14769335	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.02764033448703E-4	0.12
18	14769335	T	A	18	14769336	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.66028131771656E-4	0.082
18	14769335	T	C	18	14769336	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.55930604028178E-5	0.024
18	14769335	T	G	18	14769336	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00294264237917025	0.07
18	14769336	T	A	18	14769337	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.01181553168389E-4	0.056
18	14769336	T	C	18	14769337	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34705532376211E-5	0.014
18	14769336	T	G	18	14769337	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.86096817146793E-4	0.088
18	14769337	A	C	18	14769338	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.23836471553597E-4	0.008
18	14769337	A	G	18	14769338	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.74844808300768E-4	0.026
18	14769337	A	T	18	14769338	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.20748241581883E-4	0.004
18	14769338	A	C	18	14769339	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.95396806820051E-5	0.0
18	14769338	A	G	18	14769339	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997239317848984	0.962
18	14769338	A	T	18	14769339	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.16422333600743E-5	0.002
18	14769339	T	A	18	14769340	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0226174895875501	0.25
18	14769339	T	C	18	14769340	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.15465931984057E-4	0.06
18	14769339	T	G	18	14769340	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999499385083144	0.742
18	14769340	A	C	18	14769341	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1226-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1226-2A>C;ENST00000580206:exon8:c.1226-2A>C;ENST00000447268:exon8:c.1226-2A>C)	.	.	0.99996947969426	0.758
18	14769340	A	G	18	14769341	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1226-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1226-2A>G;ENST00000580206:exon8:c.1226-2A>G;ENST00000447268:exon8:c.1226-2A>G)	.	.	0.99996947969426	0.758
18	14769340	A	T	18	14769341	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1226-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1226-2A>T;ENST00000580206:exon8:c.1226-2A>T;ENST00000447268:exon8:c.1226-2A>T)	.	.	0.99996947969426	0.766
18	14769341	G	A	18	14769342	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1226-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1226-1G>A;ENST00000580206:exon8:c.1226-1G>A;ENST00000447268:exon8:c.1226-1G>A)	.	.	0.999941977319723	0.752
18	14769341	G	C	18	14769342	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1226-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1226-1G>C;ENST00000580206:exon8:c.1226-1G>C;ENST00000447268:exon8:c.1226-1G>C)	.	.	0.999941977319723	0.748
18	14769341	G	T	18	14769342	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1226-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1226-1G>T;ENST00000580206:exon8:c.1226-1G>T;ENST00000447268:exon8:c.1226-1G>T)	.	.	0.999941977319723	0.75
18	14769342	T	A	18	14769343	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.T1226A:p.V409E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.T1226A:p.V409E;ENSG00000180777:ENST00000358984:exon8:c.T1226A:p.V409E;ENSG00000180777:ENST00000447268:exon8:c.T1226A:p.V409E;	1.55955572115086E-5	0.0
18	14769342	T	C	18	14769343	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.T1226C:p.V409A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.T1226C:p.V409A;ENSG00000180777:ENST00000358984:exon8:c.T1226C:p.V409A;ENSG00000180777:ENST00000447268:exon8:c.T1226C:p.V409A;	1.32062483997024E-4	0.082
18	14769342	T	G	18	14769343	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.T1226G:p.V409G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.T1226G:p.V409G;ENSG00000180777:ENST00000358984:exon8:c.T1226G:p.V409G;ENSG00000180777:ENST00000447268:exon8:c.T1226G:p.V409G;	4.07814333661595E-5	0.052
18	14769343	G	A	18	14769344	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon8:c.G1227A:p.V409V;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.G1227A:p.V409V;ENSG00000180777:ENST00000358984:exon8:c.G1227A:p.V409V;ENSG00000180777:ENST00000447268:exon8:c.G1227A:p.V409V;	4.32562064317208E-5	0.074
18	14769343	G	C	18	14769344	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon8:c.G1227C:p.V409V;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.G1227C:p.V409V;ENSG00000180777:ENST00000358984:exon8:c.G1227C:p.V409V;ENSG00000180777:ENST00000447268:exon8:c.G1227C:p.V409V;	3.511157765484E-5	0.012
18	14769343	G	T	18	14769344	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon8:c.G1227T:p.V409V;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.G1227T:p.V409V;ENSG00000180777:ENST00000358984:exon8:c.G1227T:p.V409V;ENSG00000180777:ENST00000447268:exon8:c.G1227T:p.V409V;	9.27296771210946E-5	0.002
18	14769370	C	A	18	14769371	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.C1254A:p.F418L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.C1254A:p.F418L;ENSG00000180777:ENST00000358984:exon8:c.C1254A:p.F418L;ENSG00000180777:ENST00000447268:exon8:c.C1254A:p.F418L;	6.12667997188622E-4	0.02
18	14769370	C	G	18	14769371	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.C1254G:p.F418L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.C1254G:p.F418L;ENSG00000180777:ENST00000358984:exon8:c.C1254G:p.F418L;ENSG00000180777:ENST00000447268:exon8:c.C1254G:p.F418L;	2.31298225585305E-4	0.02
18	14769370	C	T	18	14769371	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon8:c.C1254T:p.F418F;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.C1254T:p.F418F;ENSG00000180777:ENST00000358984:exon8:c.C1254T:p.F418F;ENSG00000180777:ENST00000447268:exon8:c.C1254T:p.F418F;	0.00271581741349351	0.222
18	14769371	A	C	18	14769372	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.A1255C:p.S419R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.A1255C:p.S419R;ENSG00000180777:ENST00000358984:exon8:c.A1255C:p.S419R;ENSG00000180777:ENST00000447268:exon8:c.A1255C:p.S419R;	0.62380426321415	0.562
18	14769371	A	G	18	14769372	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.A1255G:p.S419G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.A1255G:p.S419G;ENSG00000180777:ENST00000358984:exon8:c.A1255G:p.S419G;ENSG00000180777:ENST00000447268:exon8:c.A1255G:p.S419G;	0.278005726343018	0.316
18	14769371	A	T	18	14769372	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.A1255T:p.S419C;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.A1255T:p.S419C;ENSG00000180777:ENST00000358984:exon8:c.A1255T:p.S419C;ENSG00000180777:ENST00000447268:exon8:c.A1255T:p.S419C;	0.36076446110622	0.458
18	14769372	G	A	18	14769373	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.G1256A:p.S419N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.G1256A:p.S419N;ENSG00000180777:ENST00000358984:exon8:c.G1256A:p.S419N;ENSG00000180777:ENST00000447268:exon8:c.G1256A:p.S419N;	0.876901121253726	0.686
18	14769372	G	C	18	14769373	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.G1256C:p.S419T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.G1256C:p.S419T;ENSG00000180777:ENST00000358984:exon8:c.G1256C:p.S419T;ENSG00000180777:ENST00000447268:exon8:c.G1256C:p.S419T;	0.934549656602649	0.602
18	14769372	G	T	18	14769373	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon8:c.G1256T:p.S419I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon8:c.G1256T:p.S419I;ENSG00000180777:ENST00000358984:exon8:c.G1256T:p.S419I;ENSG00000180777:ENST00000447268:exon8:c.G1256T:p.S419I;	0.980260579643193	0.8
18	14769373	G	A	18	14769374	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1256+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1256+1G>A;ENST00000580206:exon8:c.1256+1G>A;ENST00000447268:exon8:c.1256+1G>A)	.	.	0.999941977319723	0.766
18	14769373	G	C	18	14769374	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1256+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1256+1G>C;ENST00000580206:exon8:c.1256+1G>C;ENST00000447268:exon8:c.1256+1G>C)	.	.	0.999941977319723	0.766
18	14769373	G	T	18	14769374	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1256+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1256+1G>T;ENST00000580206:exon8:c.1256+1G>T;ENST00000447268:exon8:c.1256+1G>T)	.	.	0.999941977319723	0.768
18	14769374	T	A	18	14769375	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1256+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1256+2T>A;ENST00000580206:exon8:c.1256+2T>A;ENST00000447268:exon8:c.1256+2T>A)	.	.	0.99996947969426	0.774
18	14769374	T	C	18	14769375	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1256+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1256+2T>C;ENST00000580206:exon8:c.1256+2T>C;ENST00000447268:exon8:c.1256+2T>C)	.	.	0.948690868985134	0.462
18	14769374	T	G	18	14769375	y	y	splicing	ANKRD30B(NM_001145029:exon8:c.1256+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon8:c.1256+2T>G;ENST00000580206:exon8:c.1256+2T>G;ENST00000447268:exon8:c.1256+2T>G)	.	.	0.99996947969426	0.772
18	14769375	A	C	18	14769376	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.885162596556248	0.622
18	14769375	A	G	18	14769376	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0049881562419009	0.104
18	14769375	A	T	18	14769376	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.938443511201865	0.636
18	14769376	A	C	18	14769377	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.055613046145753	0.41
18	14769376	A	G	18	14769377	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0744597086401798	0.44
18	14769376	A	T	18	14769377	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0966977424296387	0.404
18	14769377	G	A	18	14769378	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.853229975866666	0.508
18	14769377	G	C	18	14769378	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.459607836692416	0.48
18	14769377	G	T	18	14769378	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.567371157102449	0.456
18	14769378	A	C	18	14769379	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.56247369818035E-4	0.054
18	14769378	A	G	18	14769379	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.48360262585187E-4	0.042
18	14769378	A	T	18	14769379	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.44496915074193E-4	0.01
18	14769379	C	A	18	14769380	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.48929332251792E-5	0.0
18	14769379	C	G	18	14769380	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.77457243820827E-5	0.0
18	14769379	C	T	18	14769380	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.77457243820827E-5	0.0
18	14769380	T	A	18	14769381	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.09065740032602E-4	0.046
18	14769380	T	C	18	14769381	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.00365874666972E-4	0.038
18	14769380	T	G	18	14769381	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34208757508979E-4	0.052
18	14772143	T	A	18	14772144	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.7184873788917E-4	0.074
18	14772143	T	C	18	14772144	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.26683395564907E-5	0.022
18	14772143	T	G	18	14772144	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.85198778605605E-4	0.082
18	14772144	T	A	18	14772145	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00967018448814326	0.284
18	14772144	T	C	18	14772145	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.41443710776898E-4	0.066
18	14772144	T	G	18	14772145	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.38994808707424E-4	0.15
18	14772145	T	A	18	14772146	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00232165235318666	0.128
18	14772145	T	C	18	14772146	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.52686038879143E-5	0.076
18	14772145	T	G	18	14772146	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00130381867805587	0.14
18	14772146	T	A	18	14772147	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.06784892675067E-4	0.034
18	14772146	T	C	18	14772147	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.96412960207959E-5	0.014
18	14772146	T	G	18	14772147	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.98670658335021E-4	0.024
18	14772147	C	A	18	14772148	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.13083777918283E-4	0.12
18	14772147	C	G	18	14772148	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.60428431938505E-4	0.102
18	14772147	C	T	18	14772148	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52975278253896E-5	0.002
18	14772148	T	A	18	14772149	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00155237397722243	0.092
18	14772148	T	C	18	14772149	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.64365744232861E-5	0.05
18	14772148	T	G	18	14772149	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00150203035021987	0.096
18	14772149	T	A	18	14772150	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.49315992837063E-4	0.118
18	14772149	T	C	18	14772150	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.05425151665819E-5	0.002
18	14772149	T	G	18	14772150	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00105544094747231	0.16
18	14772150	T	A	18	14772151	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.08012622989765E-4	0.18
18	14772150	T	C	18	14772151	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.99737701717378E-5	0.048
18	14772150	T	G	18	14772151	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.56112099952589E-4	0.21
18	14772151	A	C	18	14772152	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.40431638555819E-5	0.068
18	14772151	A	G	18	14772152	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.61709209227388E-4	0.078
18	14772151	A	T	18	14772152	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.73751428816904E-5	0.01
18	14772152	A	C	18	14772153	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.45843279859784E-4	0.224
18	14772152	A	G	18	14772153	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.125265536941222	0.612
18	14772152	A	T	18	14772153	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.12666983840838E-5	0.016
18	14772153	A	C	18	14772154	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1257-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1257-2A>C;ENST00000580206:exon9:c.1257-2A>C;ENST00000447268:exon9:c.1257-2A>C)	.	.	0.99996947969426	0.694
18	14772153	A	G	18	14772154	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1257-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1257-2A>G;ENST00000580206:exon9:c.1257-2A>G;ENST00000447268:exon9:c.1257-2A>G)	.	.	0.99996947969426	0.694
18	14772153	A	T	18	14772154	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1257-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1257-2A>T;ENST00000580206:exon9:c.1257-2A>T;ENST00000447268:exon9:c.1257-2A>T)	.	.	0.99996947969426	0.728
18	14772154	G	A	18	14772155	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1257-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1257-1G>A;ENST00000580206:exon9:c.1257-1G>A;ENST00000447268:exon9:c.1257-1G>A)	.	.	0.99824944219034	0.466
18	14772154	G	C	18	14772155	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1257-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1257-1G>C;ENST00000580206:exon9:c.1257-1G>C;ENST00000447268:exon9:c.1257-1G>C)	.	.	0.99824944219034	0.422
18	14772154	G	T	18	14772155	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1257-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1257-1G>T;ENST00000580206:exon9:c.1257-1G>T;ENST00000447268:exon9:c.1257-1G>T)	.	.	0.99824944219034	0.436
18	14772155	T	A	18	14772156	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.T1257A:p.S419R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.T1257A:p.S419R;ENSG00000180777:ENST00000358984:exon9:c.T1257A:p.S419R;ENSG00000180777:ENST00000447268:exon9:c.T1257A:p.S419R;	2.06402252339182E-5	0.014
18	14772155	T	C	18	14772156	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon9:c.T1257C:p.S419S;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.T1257C:p.S419S;ENSG00000180777:ENST00000358984:exon9:c.T1257C:p.S419S;ENSG00000180777:ENST00000447268:exon9:c.T1257C:p.S419S;	1.84186089418368E-4	0.036
18	14772155	T	G	18	14772156	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.T1257G:p.S419R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.T1257G:p.S419R;ENSG00000180777:ENST00000358984:exon9:c.T1257G:p.S419R;ENSG00000180777:ENST00000447268:exon9:c.T1257G:p.S419R;	5.89652593738842E-5	0.078
18	14772156	C	A	18	14772157	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.C1258A:p.L420I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.C1258A:p.L420I;ENSG00000180777:ENST00000358984:exon9:c.C1258A:p.L420I;ENSG00000180777:ENST00000447268:exon9:c.C1258A:p.L420I;	5.20307171998196E-5	0.0
18	14772156	C	G	18	14772157	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.C1258G:p.L420V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.C1258G:p.L420V;ENSG00000180777:ENST00000358984:exon9:c.C1258G:p.L420V;ENSG00000180777:ENST00000447268:exon9:c.C1258G:p.L420V;	5.63688105636451E-5	0.0
18	14772156	C	T	18	14772157	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.C1258T:p.L420F;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.C1258T:p.L420F;ENSG00000180777:ENST00000358984:exon9:c.C1258T:p.L420F;ENSG00000180777:ENST00000447268:exon9:c.C1258T:p.L420F;	2.51287831104909E-5	0.008
18	14772225	A	C	18	14772226	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.A1327C:p.K443Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.A1327C:p.K443Q;ENSG00000180777:ENST00000358984:exon9:c.A1327C:p.K443Q;ENSG00000180777:ENST00000447268:exon9:c.A1327C:p.K443Q;	0.00102115745586189	0.004
18	14772225	A	G	18	14772226	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.A1327G:p.K443E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.A1327G:p.K443E;ENSG00000180777:ENST00000358984:exon9:c.A1327G:p.K443E;ENSG00000180777:ENST00000447268:exon9:c.A1327G:p.K443E;	1.83478598382491E-4	0.006
18	14772225	A	T	18	14772226	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon9:c.A1327T:p.K443X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon9:c.A1327T:p.K443X;ENSG00000180777:ENST00000358984:exon9:c.A1327T:p.K443X;ENSG00000180777:ENST00000447268:exon9:c.A1327T:p.K443X;	0.633359577725998	0.516
18	14772226	A	C	18	14772227	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.A1328C:p.K443T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.A1328C:p.K443T;ENSG00000180777:ENST00000358984:exon9:c.A1328C:p.K443T;ENSG00000180777:ENST00000447268:exon9:c.A1328C:p.K443T;	0.625795313985171	0.676
18	14772226	A	G	18	14772227	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.A1328G:p.K443R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.A1328G:p.K443R;ENSG00000180777:ENST00000358984:exon9:c.A1328G:p.K443R;ENSG00000180777:ENST00000447268:exon9:c.A1328G:p.K443R;	0.970899755520153	0.718
18	14772226	A	T	18	14772227	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.A1328T:p.K443M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.A1328T:p.K443M;ENSG00000180777:ENST00000358984:exon9:c.A1328T:p.K443M;ENSG00000180777:ENST00000447268:exon9:c.A1328T:p.K443M;	0.991331183728578	0.73
18	14772227	G	A	18	14772228	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon9:c.G1329A:p.K443K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.G1329A:p.K443K;ENSG00000180777:ENST00000358984:exon9:c.G1329A:p.K443K;ENSG00000180777:ENST00000447268:exon9:c.G1329A:p.K443K;	0.99997346449948	0.9
18	14772227	G	C	18	14772228	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.G1329C:p.K443N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.G1329C:p.K443N;ENSG00000180777:ENST00000358984:exon9:c.G1329C:p.K443N;ENSG00000180777:ENST00000447268:exon9:c.G1329C:p.K443N;	0.99998150995375	0.982
18	14772227	G	T	18	14772228	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon9:c.G1329T:p.K443N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon9:c.G1329T:p.K443N;ENSG00000180777:ENST00000358984:exon9:c.G1329T:p.K443N;ENSG00000180777:ENST00000447268:exon9:c.G1329T:p.K443N;	0.99997473298997	0.968
18	14772228	G	A	18	14772229	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1329+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1329+1G>A;ENST00000580206:exon9:c.1329+1G>A;ENST00000447268:exon9:c.1329+1G>A)	.	.	0.999941977319723	0.668
18	14772228	G	C	18	14772229	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1329+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1329+1G>C;ENST00000580206:exon9:c.1329+1G>C;ENST00000447268:exon9:c.1329+1G>C)	.	.	0.999941977319723	0.672
18	14772228	G	T	18	14772229	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1329+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1329+1G>T;ENST00000580206:exon9:c.1329+1G>T;ENST00000447268:exon9:c.1329+1G>T)	.	.	0.999941977319723	0.672
18	14772229	T	A	18	14772230	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1329+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1329+2T>A;ENST00000580206:exon9:c.1329+2T>A;ENST00000447268:exon9:c.1329+2T>A)	.	.	0.99996947969426	0.654
18	14772229	T	C	18	14772230	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1329+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1329+2T>C;ENST00000580206:exon9:c.1329+2T>C;ENST00000447268:exon9:c.1329+2T>C)	.	.	0.900791371642204	0.498
18	14772229	T	G	18	14772230	y	y	splicing	ANKRD30B(NM_001145029:exon9:c.1329+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon9:c.1329+2T>G;ENST00000580206:exon9:c.1329+2T>G;ENST00000447268:exon9:c.1329+2T>G)	.	.	0.99996947969426	0.668
18	14772230	A	C	18	14772231	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999730488825257	0.82
18	14772230	A	G	18	14772231	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.97510606816263	0.558
18	14772230	A	T	18	14772231	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999255209168186	0.79
18	14772231	A	C	18	14772232	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.18517614467288	0.346
18	14772231	A	G	18	14772232	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.29465393317886	0.466
18	14772231	A	T	18	14772232	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.331189904011154	0.462
18	14772232	A	C	18	14772233	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18036127092286E-4	0.054
18	14772232	A	G	18	14772233	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.4477870765016E-4	0.138
18	14772232	A	T	18	14772233	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.45957999548976E-5	0.05
18	14772233	A	C	18	14772234	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.79077082402388E-5	0.016
18	14772233	A	G	18	14772234	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.98664471577337E-6	0.0
18	14772233	A	T	18	14772234	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.95048459408849E-5	0.004
18	14772234	T	A	18	14772235	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.23422304900167E-4	0.008
18	14772234	T	C	18	14772235	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.51603608067147E-4	0.014
18	14772234	T	G	18	14772235	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.51603608067147E-4	0.014
18	14772235	G	A	18	14772236	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.38563090092278E-5	0.0
18	14772235	G	C	18	14772236	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.63268294821453E-5	0.004
18	14772235	G	T	18	14772236	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.44064901358485E-5	0.004
18	14777972	T	A	18	14777973	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0228496567896309	0.348
18	14777972	T	C	18	14777973	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.89370660469023E-5	0.004
18	14777972	T	G	18	14777973	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00194338561184898	0.122
18	14777973	A	C	18	14777974	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.40347652697844E-5	0.014
18	14777973	A	G	18	14777974	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14105035783757E-5	0.004
18	14777973	A	T	18	14777974	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.44362172635607E-5	0.054
18	14777974	C	A	18	14777975	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.7409049380715E-4	0.004
18	14777974	C	G	18	14777975	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99185281382914	0.532
18	14777974	C	T	18	14777975	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.65047354028333E-5	0.0
18	14777975	C	A	18	14777976	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.06458974096978E-4	0.082
18	14777975	C	G	18	14777976	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.73862985978429E-4	0.172
18	14777975	C	T	18	14777976	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22712816426536E-5	0.018
18	14777976	T	A	18	14777977	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0125781370284854	0.348
18	14777976	T	C	18	14777977	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.23940362757365E-6	0.016
18	14777976	T	G	18	14777977	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0067371230253739	0.248
18	14777977	T	A	18	14777978	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.289072470010869	0.458
18	14777977	T	C	18	14777978	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.88369595659055E-5	0.05
18	14777977	T	G	18	14777978	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.5420974068471	0.596
18	14777978	T	A	18	14777979	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.105140208603795	0.45
18	14777978	T	C	18	14777979	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.07998445679791E-5	0.046
18	14777978	T	G	18	14777979	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.289095804336001	0.49
18	14777979	A	C	18	14777980	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67944982512943E-5	0.0
18	14777979	A	G	18	14777980	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.108237896492E-5	0.0
18	14777979	A	T	18	14777980	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67944982512943E-5	0.0
18	14777980	A	C	18	14777981	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.34835039366993E-4	0.058
18	14777980	A	G	18	14777981	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998337541549574	0.974
18	14777980	A	T	18	14777981	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.56090529821323E-4	0.056
18	14777981	C	A	18	14777982	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.730317343982658	0.704
18	14777981	C	G	18	14777982	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.995575207836633	0.726
18	14777981	C	T	18	14777982	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00173976702302301	0.148
18	14777982	A	C	18	14777983	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1330-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1330-2A>C;ENST00000580206:exon10:c.1330-2A>C;ENST00000447268:exon10:c.1330-2A>C)	.	.	0.99996947969426	0.736
18	14777982	A	G	18	14777983	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1330-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1330-2A>G;ENST00000580206:exon10:c.1330-2A>G;ENST00000447268:exon10:c.1330-2A>G)	.	.	0.99996947969426	0.736
18	14777982	A	T	18	14777983	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1330-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1330-2A>T;ENST00000580206:exon10:c.1330-2A>T;ENST00000447268:exon10:c.1330-2A>T)	.	.	0.99996947969426	0.75
18	14777983	G	A	18	14777984	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1330-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1330-1G>A;ENST00000580206:exon10:c.1330-1G>A;ENST00000447268:exon10:c.1330-1G>A)	.	.	0.999952513967755	0.738
18	14777983	G	C	18	14777984	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1330-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1330-1G>C;ENST00000580206:exon10:c.1330-1G>C;ENST00000447268:exon10:c.1330-1G>C)	.	.	0.999952513967755	0.728
18	14777983	G	T	18	14777984	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1330-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1330-1G>T;ENST00000580206:exon10:c.1330-1G>T;ENST00000447268:exon10:c.1330-1G>T)	.	.	0.999952513967755	0.728
18	14777984	A	C	18	14777985	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1330C:p.I444L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1330C:p.I444L;ENSG00000180777:ENST00000358984:exon10:c.A1330C:p.I444L;ENSG00000180777:ENST00000447268:exon10:c.A1330C:p.I444L;	4.14252383454666E-4	0.064
18	14777984	A	G	18	14777985	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1330G:p.I444V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1330G:p.I444V;ENSG00000180777:ENST00000358984:exon10:c.A1330G:p.I444V;ENSG00000180777:ENST00000447268:exon10:c.A1330G:p.I444V;	3.67981952440664E-5	0.024
18	14777984	A	T	18	14777985	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1330T:p.I444F;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1330T:p.I444F;ENSG00000180777:ENST00000358984:exon10:c.A1330T:p.I444F;ENSG00000180777:ENST00000447268:exon10:c.A1330T:p.I444F;	0.00136247556276762	0.064
18	14777985	T	A	18	14777986	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.T1331A:p.I444N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.T1331A:p.I444N;ENSG00000180777:ENST00000358984:exon10:c.T1331A:p.I444N;ENSG00000180777:ENST00000447268:exon10:c.T1331A:p.I444N;	6.10508922372735E-4	0.032
18	14777985	T	C	18	14777986	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.T1331C:p.I444T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.T1331C:p.I444T;ENSG00000180777:ENST00000358984:exon10:c.T1331C:p.I444T;ENSG00000180777:ENST00000447268:exon10:c.T1331C:p.I444T;	6.80610460613594E-4	0.058
18	14777985	T	G	18	14777986	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.T1331G:p.I444S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.T1331G:p.I444S;ENSG00000180777:ENST00000358984:exon10:c.T1331G:p.I444S;ENSG00000180777:ENST00000447268:exon10:c.T1331G:p.I444S;	9.5962875085579E-4	0.062
18	14778072	A	C	18	14778073	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1418C:p.E473A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1418C:p.E473A;ENSG00000180777:ENST00000358984:exon10:c.A1418C:p.E473A;ENSG00000180777:ENST00000447268:exon10:c.A1418C:p.E473A;	2.5824744682904E-5	0.0
18	14778072	A	G	18	14778073	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1418G:p.E473G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1418G:p.E473G;ENSG00000180777:ENST00000358984:exon10:c.A1418G:p.E473G;ENSG00000180777:ENST00000447268:exon10:c.A1418G:p.E473G;	2.86216774866646E-5	0.046
18	14778072	A	T	18	14778073	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1418T:p.E473V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1418T:p.E473V;ENSG00000180777:ENST00000358984:exon10:c.A1418T:p.E473V;ENSG00000180777:ENST00000447268:exon10:c.A1418T:p.E473V;	3.05667697697265E-4	0.102
18	14778073	A	C	18	14778074	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1419C:p.E473D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1419C:p.E473D;ENSG00000180777:ENST00000358984:exon10:c.A1419C:p.E473D;ENSG00000180777:ENST00000447268:exon10:c.A1419C:p.E473D;	0.0305668390556306	0.478
18	14778073	A	G	18	14778074	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1419G:p.E473E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1419G:p.E473E;ENSG00000180777:ENST00000358984:exon10:c.A1419G:p.E473E;ENSG00000180777:ENST00000447268:exon10:c.A1419G:p.E473E;	0.0251989262067486	0.328
18	14778073	A	T	18	14778074	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.A1419T:p.E473D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.A1419T:p.E473D;ENSG00000180777:ENST00000358984:exon10:c.A1419T:p.E473D;ENSG00000180777:ENST00000447268:exon10:c.A1419T:p.E473D;	0.0229654321962717	0.408
18	14778074	G	A	18	14778075	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.G1420A:p.D474N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.G1420A:p.D474N;ENSG00000180777:ENST00000358984:exon10:c.G1420A:p.D474N;ENSG00000180777:ENST00000447268:exon10:c.G1420A:p.D474N;	0.937543611559425	0.792
18	14778074	G	C	18	14778075	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.G1420C:p.D474H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.G1420C:p.D474H;ENSG00000180777:ENST00000358984:exon10:c.G1420C:p.D474H;ENSG00000180777:ENST00000447268:exon10:c.G1420C:p.D474H;	0.995925010321781	0.648
18	14778074	G	T	18	14778075	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon10:c.G1420T:p.D474Y;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon10:c.G1420T:p.D474Y;ENSG00000180777:ENST00000358984:exon10:c.G1420T:p.D474Y;ENSG00000180777:ENST00000447268:exon10:c.G1420T:p.D474Y;	0.991415367300211	0.746
18	14778075	G	A	18	14778076	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1420+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1420+1G>A;ENST00000580206:exon10:c.1420+1G>A;ENST00000447268:exon10:c.1420+1G>A)	.	.	0.99996947969426	0.772
18	14778075	G	C	18	14778076	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1420+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1420+1G>C;ENST00000580206:exon10:c.1420+1G>C;ENST00000447268:exon10:c.1420+1G>C)	.	.	0.99996947969426	0.772
18	14778075	G	T	18	14778076	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1420+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1420+1G>T;ENST00000580206:exon10:c.1420+1G>T;ENST00000447268:exon10:c.1420+1G>T)	.	.	0.99996947969426	0.774
18	14778076	T	A	18	14778077	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1420+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1420+2T>A;ENST00000580206:exon10:c.1420+2T>A;ENST00000447268:exon10:c.1420+2T>A)	.	.	0.99996947969426	0.774
18	14778076	T	C	18	14778077	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1420+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1420+2T>C;ENST00000580206:exon10:c.1420+2T>C;ENST00000447268:exon10:c.1420+2T>C)	.	.	0.926253843010219	0.46
18	14778076	T	G	18	14778077	y	y	splicing	ANKRD30B(NM_001145029:exon10:c.1420+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon10:c.1420+2T>G;ENST00000580206:exon10:c.1420+2T>G;ENST00000447268:exon10:c.1420+2T>G)	.	.	0.99996947969426	0.772
18	14778077	A	C	18	14778078	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.961909413270392	0.724
18	14778077	A	G	18	14778078	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00470439396120349	0.162
18	14778077	A	T	18	14778078	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.948584226912525	0.636
18	14778078	A	C	18	14778079	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.33616256042409	0.42
18	14778078	A	G	18	14778079	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.400225188066775	0.5
18	14778078	A	T	18	14778079	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.267316411684367	0.438
18	14778079	G	A	18	14778080	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.297574101123585	0.37
18	14778079	G	C	18	14778080	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.144176940126364	0.354
18	14778079	G	T	18	14778080	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.107135603406772	0.33
18	14778080	A	C	18	14778081	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.56680845148083E-4	0.048
18	14778080	A	G	18	14778081	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68724158646927E-4	0.036
18	14778080	A	T	18	14778081	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.66099378149756E-4	0.018
18	14778081	A	C	18	14778082	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18514214212084E-4	0.06
18	14778081	A	G	18	14778082	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18514214212084E-4	0.044
18	14778081	A	T	18	14778082	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.21564223137097E-4	0.08
18	14778082	C	A	18	14778083	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.02885091851015E-4	0.04
18	14778082	C	G	18	14778083	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.02885091851015E-4	0.044
18	14778082	C	T	18	14778083	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.02885091851015E-4	0.04
18	14779947	T	A	18	14779948	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.209888512629759	0.61
18	14779947	T	C	18	14779948	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67338437203014E-4	0.122
18	14779947	T	G	18	14779948	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.132726017127998	0.538
18	14779948	A	C	18	14779949	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.37091045687075E-5	0.022
18	14779948	A	G	18	14779949	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.37672280476789E-5	0.006
18	14779948	A	T	18	14779949	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.81738089555898E-5	0.12
18	14779949	A	C	18	14779950	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.22039028771034E-6	0.002
18	14779949	A	G	18	14779950	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993561877791008	0.926
18	14779949	A	T	18	14779950	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.77844076946656E-5	0.028
18	14779950	C	A	18	14779951	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.3904408885927E-4	0.05
18	14779950	C	G	18	14779951	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999832223870501	0.956
18	14779950	C	T	18	14779951	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.09461907338868E-5	0.004
18	14779951	A	C	18	14779952	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.57425113233739E-5	0.016
18	14779951	A	G	18	14779952	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.33458295164248E-5	0.01
18	14779951	A	T	18	14779952	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.57425113233739E-5	0.024
18	14779952	T	A	18	14779953	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00975794711994174	0.284
18	14779952	T	C	18	14779953	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.70324687105851E-5	0.04
18	14779952	T	G	18	14779953	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999886973679397	0.964
18	14779953	T	A	18	14779954	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.717765616775953	0.578
18	14779953	T	C	18	14779954	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.06139127625474E-4	0.026
18	14779953	T	G	18	14779954	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.682913302842474	0.568
18	14779954	T	A	18	14779955	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.944511609894969	0.598
18	14779954	T	C	18	14779955	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0130876664970427	0.18
18	14779954	T	G	18	14779955	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.950457237133948	0.606
18	14779955	T	A	18	14779956	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.70402739874856E-4	0.04
18	14779955	T	C	18	14779956	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.6791349203108E-5	0.028
18	14779955	T	G	18	14779956	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.18966395987324E-4	0.03
18	14779956	T	A	18	14779957	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00398433025837312	0.316
18	14779956	T	C	18	14779957	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.04148191325326E-5	0.038
18	14779956	T	G	18	14779957	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.980274629141727	0.674
18	14779957	A	C	18	14779958	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1421-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1421-2A>C;ENST00000580206:exon11:c.1421-2A>C;ENST00000447268:exon11:c.1421-2A>C)	.	.	0.9999535374451	0.766
18	14779957	A	G	18	14779958	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1421-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1421-2A>G;ENST00000580206:exon11:c.1421-2A>G;ENST00000447268:exon11:c.1421-2A>G)	.	.	0.9999535374451	0.766
18	14779957	A	T	18	14779958	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1421-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1421-2A>T;ENST00000580206:exon11:c.1421-2A>T;ENST00000447268:exon11:c.1421-2A>T)	.	.	0.9999535374451	0.762
18	14779958	G	A	18	14779959	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1421-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1421-1G>A;ENST00000580206:exon11:c.1421-1G>A;ENST00000447268:exon11:c.1421-1G>A)	.	.	0.999979463617182	0.766
18	14779958	G	C	18	14779959	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1421-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1421-1G>C;ENST00000580206:exon11:c.1421-1G>C;ENST00000447268:exon11:c.1421-1G>C)	.	.	0.999979463617182	0.762
18	14779958	G	T	18	14779959	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1421-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1421-1G>T;ENST00000580206:exon11:c.1421-1G>T;ENST00000447268:exon11:c.1421-1G>T)	.	.	0.999979463617182	0.764
18	14779959	A	C	18	14779960	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.A1421C:p.D474A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.A1421C:p.D474A;ENSG00000180777:ENST00000358984:exon11:c.A1421C:p.D474A;ENSG00000180777:ENST00000447268:exon11:c.A1421C:p.D474A;	3.69578113394293E-4	0.094
18	14779959	A	G	18	14779960	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.A1421G:p.D474G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.A1421G:p.D474G;ENSG00000180777:ENST00000358984:exon11:c.A1421G:p.D474G;ENSG00000180777:ENST00000447268:exon11:c.A1421G:p.D474G;	4.7521514427694E-5	0.008
18	14779959	A	T	18	14779960	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.A1421T:p.D474V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.A1421T:p.D474V;ENSG00000180777:ENST00000358984:exon11:c.A1421T:p.D474V;ENSG00000180777:ENST00000447268:exon11:c.A1421T:p.D474V;	0.00114221665496851	0.052
18	14779960	T	A	18	14779961	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.T1422A:p.D474E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.T1422A:p.D474E;ENSG00000180777:ENST00000358984:exon11:c.T1422A:p.D474E;ENSG00000180777:ENST00000447268:exon11:c.T1422A:p.D474E;	4.64658325756992E-4	0.046
18	14779960	T	C	18	14779961	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon11:c.T1422C:p.D474D;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.T1422C:p.D474D;ENSG00000180777:ENST00000358984:exon11:c.T1422C:p.D474D;ENSG00000180777:ENST00000447268:exon11:c.T1422C:p.D474D;	5.9246400261686E-4	0.092
18	14779960	T	G	18	14779961	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.T1422G:p.D474E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.T1422G:p.D474E;ENSG00000180777:ENST00000358984:exon11:c.T1422G:p.D474E;ENSG00000180777:ENST00000447268:exon11:c.T1422G:p.D474E;	4.21309567985718E-4	0.034
18	14780018	G	A	18	14780019	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1480A:p.G494R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1480A:p.G494R;ENSG00000180777:ENST00000358984:exon11:c.G1480A:p.G494R;ENSG00000180777:ENST00000447268:exon11:c.G1480A:p.G494R;	1.64818993510705E-4	0.076
18	14780018	G	C	18	14780019	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1480C:p.G494R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1480C:p.G494R;ENSG00000180777:ENST00000358984:exon11:c.G1480C:p.G494R;ENSG00000180777:ENST00000447268:exon11:c.G1480C:p.G494R;	2.57533870321073E-4	0.058
18	14780018	G	T	18	14780019	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1480T:p.G494W;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1480T:p.G494W;ENSG00000180777:ENST00000358984:exon11:c.G1480T:p.G494W;ENSG00000180777:ENST00000447268:exon11:c.G1480T:p.G494W;	0.0022661288062691	0.074
18	14780019	G	A	18	14780020	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1481A:p.G494E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1481A:p.G494E;ENSG00000180777:ENST00000358984:exon11:c.G1481A:p.G494E;ENSG00000180777:ENST00000447268:exon11:c.G1481A:p.G494E;	4.0180728527505E-5	0.024
18	14780019	G	C	18	14780020	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1481C:p.G494A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1481C:p.G494A;ENSG00000180777:ENST00000358984:exon11:c.G1481C:p.G494A;ENSG00000180777:ENST00000447268:exon11:c.G1481C:p.G494A;	1.49694899876514E-5	0.044
18	14780019	G	T	18	14780020	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1481T:p.G494V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1481T:p.G494V;ENSG00000180777:ENST00000358984:exon11:c.G1481T:p.G494V;ENSG00000180777:ENST00000447268:exon11:c.G1481T:p.G494V;	0.00107849451315103	0.044
18	14780020	G	A	18	14780021	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1482A:p.G494G;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1482A:p.G494G;ENSG00000180777:ENST00000358984:exon11:c.G1482A:p.G494G;ENSG00000180777:ENST00000447268:exon11:c.G1482A:p.G494G;	0.960995677364626	0.71
18	14780020	G	C	18	14780021	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1482C:p.G494G;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1482C:p.G494G;ENSG00000180777:ENST00000358984:exon11:c.G1482C:p.G494G;ENSG00000180777:ENST00000447268:exon11:c.G1482C:p.G494G;	0.987930177474805	0.696
18	14780020	G	T	18	14780021	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon11:c.G1482T:p.G494G;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon11:c.G1482T:p.G494G;ENSG00000180777:ENST00000358984:exon11:c.G1482T:p.G494G;ENSG00000180777:ENST00000447268:exon11:c.G1482T:p.G494G;	0.969718066960134	0.676
18	14780021	G	A	18	14780022	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1482+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1482+1G>A;ENST00000580206:exon11:c.1482+1G>A;ENST00000447268:exon11:c.1482+1G>A)	.	.	0.999831901348575	0.78
18	14780021	G	C	18	14780022	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1482+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1482+1G>C;ENST00000580206:exon11:c.1482+1G>C;ENST00000447268:exon11:c.1482+1G>C)	.	.	0.999831901348575	0.772
18	14780021	G	T	18	14780022	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1482+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1482+1G>T;ENST00000580206:exon11:c.1482+1G>T;ENST00000447268:exon11:c.1482+1G>T)	.	.	0.999831901348575	0.782
18	14780022	T	A	18	14780023	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1482+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1482+2T>A;ENST00000580206:exon11:c.1482+2T>A;ENST00000447268:exon11:c.1482+2T>A)	.	.	0.999619755915597	0.77
18	14780022	T	C	18	14780023	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1482+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1482+2T>C;ENST00000580206:exon11:c.1482+2T>C;ENST00000447268:exon11:c.1482+2T>C)	.	.	0.988934220595666	0.668
18	14780022	T	G	18	14780023	y	y	splicing	ANKRD30B(NM_001145029:exon11:c.1482+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon11:c.1482+2T>G;ENST00000580206:exon11:c.1482+2T>G;ENST00000447268:exon11:c.1482+2T>G)	.	.	0.999619755915597	0.77
18	14780023	A	C	18	14780024	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998324343548162	0.768
18	14780023	A	G	18	14780024	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.764302335972009	0.62
18	14780023	A	T	18	14780024	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998714418428691	0.784
18	14780024	T	A	18	14780025	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.64020027839555E-5	0.01
18	14780024	T	C	18	14780025	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.81104709051921E-5	0.018
18	14780024	T	G	18	14780025	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.88945151703346E-4	0.09
18	14780025	T	A	18	14780026	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.71618346923674E-4	0.096
18	14780025	T	C	18	14780026	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.9386960118997E-5	0.01
18	14780025	T	G	18	14780026	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.54082555516298E-5	0.118
18	14780026	G	A	18	14780027	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00449141732790878	0.066
18	14780026	G	C	18	14780027	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00214147002672329	0.078
18	14780026	G	T	18	14780027	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.48987618934092E-4	0.102
18	14780027	T	A	18	14780028	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.87781476450122E-5	0.008
18	14780027	T	C	18	14780028	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52314173307798E-5	0.018
18	14780027	T	G	18	14780028	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52314173307798E-5	0.016
18	14780028	G	A	18	14780029	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22039361368E-4	0.01
18	14780028	G	C	18	14780029	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22039361368E-4	0.01
18	14780028	G	T	18	14780029	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.4153400022762E-5	0.058
18	14782514	T	A	18	14782515	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.164700803410964	0.57
18	14782514	T	C	18	14782515	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.40353887533396E-4	0.026
18	14782514	T	G	18	14782515	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.104789406593356	0.326
18	14782515	A	C	18	14782516	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.95533669465696E-5	0.01
18	14782515	A	G	18	14782516	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.93543897401704E-5	0.02
18	14782515	A	T	18	14782516	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68076287437092E-4	0.09
18	14782516	C	A	18	14782517	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.03788588683932E-4	0.066
18	14782516	C	G	18	14782517	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999698272397548	0.962
18	14782516	C	T	18	14782517	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.41275334307722E-5	0.002
18	14782517	T	A	18	14782518	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.370404063146018	0.458
18	14782517	T	C	18	14782518	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.03890400493678E-5	0.072
18	14782517	T	G	18	14782518	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.254235700301941	0.466
18	14782518	T	A	18	14782519	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.769641007354293	0.67
18	14782518	T	C	18	14782519	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.80359355391649E-5	0.014
18	14782518	T	G	18	14782519	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.762419355565916	0.642
18	14782519	T	A	18	14782520	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.886580075137932	0.662
18	14782519	T	C	18	14782520	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.86012901500233E-5	0.018
18	14782519	T	G	18	14782520	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.856637159435746	0.668
18	14782520	T	A	18	14782521	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.247258346764806	0.472
18	14782520	T	C	18	14782521	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.50569523216431E-5	0.036
18	14782520	T	G	18	14782521	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.908378756078619	0.612
18	14782521	A	C	18	14782522	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.34743286822057E-5	0.0
18	14782521	A	G	18	14782522	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0011160884066949	0.05
18	14782521	A	T	18	14782522	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.72992372791788E-5	0.022
18	14782522	A	C	18	14782523	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.9686739537251E-4	0.086
18	14782522	A	G	18	14782523	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999603189375033	0.98
18	14782522	A	T	18	14782523	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00187878725182708	0.054
18	14782523	C	A	18	14782524	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999643139067684	0.848
18	14782523	C	G	18	14782524	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999809777055046	0.792
18	14782523	C	T	18	14782524	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.723130802231671	0.404
18	14782524	A	C	18	14782525	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1483-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1483-2A>C;ENST00000580206:exon12:c.1483-2A>C;ENST00000447268:exon12:c.1483-2A>C)	.	.	0.999919540537057	0.79
18	14782524	A	G	18	14782525	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1483-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1483-2A>G;ENST00000580206:exon12:c.1483-2A>G;ENST00000447268:exon12:c.1483-2A>G)	.	.	0.999919540537057	0.79
18	14782524	A	T	18	14782525	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1483-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1483-2A>T;ENST00000580206:exon12:c.1483-2A>T;ENST00000447268:exon12:c.1483-2A>T)	.	.	0.999919540537057	0.792
18	14782525	G	A	18	14782526	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1483-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1483-1G>A;ENST00000580206:exon12:c.1483-1G>A;ENST00000447268:exon12:c.1483-1G>A)	.	.	0.999919540537057	0.752
18	14782525	G	C	18	14782526	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1483-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1483-1G>C;ENST00000580206:exon12:c.1483-1G>C;ENST00000447268:exon12:c.1483-1G>C)	.	.	0.999919540537057	0.78
18	14782525	G	T	18	14782526	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1483-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1483-1G>T;ENST00000580206:exon12:c.1483-1G>T;ENST00000447268:exon12:c.1483-1G>T)	.	.	0.999919540537057	0.782
18	14782526	A	C	18	14782527	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1483C:p.S495R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1483C:p.S495R;ENSG00000180777:ENST00000358984:exon12:c.A1483C:p.S495R;ENSG00000180777:ENST00000447268:exon12:c.A1483C:p.S495R;	0.00129198084815328	0.174
18	14782526	A	G	18	14782527	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1483G:p.S495G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1483G:p.S495G;ENSG00000180777:ENST00000358984:exon12:c.A1483G:p.S495G;ENSG00000180777:ENST00000447268:exon12:c.A1483G:p.S495G;	2.57896464168826E-4	0.024
18	14782526	A	T	18	14782527	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1483T:p.S495C;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1483T:p.S495C;ENSG00000180777:ENST00000358984:exon12:c.A1483T:p.S495C;ENSG00000180777:ENST00000447268:exon12:c.A1483T:p.S495C;	0.00232932573000661	0.152
18	14782527	G	A	18	14782528	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.G1484A:p.S495N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.G1484A:p.S495N;ENSG00000180777:ENST00000358984:exon12:c.G1484A:p.S495N;ENSG00000180777:ENST00000447268:exon12:c.G1484A:p.S495N;	5.08461253473059E-4	0.028
18	14782527	G	C	18	14782528	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.G1484C:p.S495T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.G1484C:p.S495T;ENSG00000180777:ENST00000358984:exon12:c.G1484C:p.S495T;ENSG00000180777:ENST00000447268:exon12:c.G1484C:p.S495T;	6.58873943548764E-4	0.05
18	14782527	G	T	18	14782528	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.G1484T:p.S495I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.G1484T:p.S495I;ENSG00000180777:ENST00000358984:exon12:c.G1484T:p.S495I;ENSG00000180777:ENST00000447268:exon12:c.G1484T:p.S495I;	0.00105458343370159	0.048
18	14782611	A	C	18	14782612	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1568C:p.E523A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1568C:p.E523A;ENSG00000180777:ENST00000358984:exon12:c.A1568C:p.E523A;ENSG00000180777:ENST00000447268:exon12:c.A1568C:p.E523A;	4.40570785289834E-5	0.036
18	14782611	A	G	18	14782612	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1568G:p.E523G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1568G:p.E523G;ENSG00000180777:ENST00000358984:exon12:c.A1568G:p.E523G;ENSG00000180777:ENST00000447268:exon12:c.A1568G:p.E523G;	8.68313468093486E-5	0.012
18	14782611	A	T	18	14782612	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1568T:p.E523V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1568T:p.E523V;ENSG00000180777:ENST00000358984:exon12:c.A1568T:p.E523V;ENSG00000180777:ENST00000447268:exon12:c.A1568T:p.E523V;	0.00186499875267025	0.132
18	14782612	A	C	18	14782613	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1569C:p.E523D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1569C:p.E523D;ENSG00000180777:ENST00000358984:exon12:c.A1569C:p.E523D;ENSG00000180777:ENST00000447268:exon12:c.A1569C:p.E523D;	0.0606589151529664	0.45
18	14782612	A	G	18	14782613	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1569G:p.E523E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1569G:p.E523E;ENSG00000180777:ENST00000358984:exon12:c.A1569G:p.E523E;ENSG00000180777:ENST00000447268:exon12:c.A1569G:p.E523E;	0.0569174824580509	0.344
18	14782612	A	T	18	14782613	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.A1569T:p.E523D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.A1569T:p.E523D;ENSG00000180777:ENST00000358984:exon12:c.A1569T:p.E523D;ENSG00000180777:ENST00000447268:exon12:c.A1569T:p.E523D;	0.078979905543749	0.39
18	14782613	G	A	18	14782614	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.G1570A:p.E524K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.G1570A:p.E524K;ENSG00000180777:ENST00000358984:exon12:c.G1570A:p.E524K;ENSG00000180777:ENST00000447268:exon12:c.G1570A:p.E524K;	0.972002112733299	0.754
18	14782613	G	C	18	14782614	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon12:c.G1570C:p.E524Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon12:c.G1570C:p.E524Q;ENSG00000180777:ENST00000358984:exon12:c.G1570C:p.E524Q;ENSG00000180777:ENST00000447268:exon12:c.G1570C:p.E524Q;	0.995292522555195	0.726
18	14782613	G	T	18	14782614	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon12:c.G1570T:p.E524X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon12:c.G1570T:p.E524X;ENSG00000180777:ENST00000358984:exon12:c.G1570T:p.E524X;ENSG00000180777:ENST00000447268:exon12:c.G1570T:p.E524X;	0.999652472462185	0.892
18	14782614	G	A	18	14782615	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1570+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1570+1G>A;ENST00000580206:exon12:c.1570+1G>A;ENST00000447268:exon12:c.1570+1G>A)	.	.	0.999965738228769	0.754
18	14782614	G	C	18	14782615	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1570+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1570+1G>C;ENST00000580206:exon12:c.1570+1G>C;ENST00000447268:exon12:c.1570+1G>C)	.	.	0.999955315679112	0.77
18	14782614	G	T	18	14782615	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1570+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1570+1G>T;ENST00000580206:exon12:c.1570+1G>T;ENST00000447268:exon12:c.1570+1G>T)	.	.	0.999955315679112	0.768
18	14782615	T	A	18	14782616	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1570+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1570+2T>A;ENST00000580206:exon12:c.1570+2T>A;ENST00000447268:exon12:c.1570+2T>A)	.	.	0.999956637462794	0.78
18	14782615	T	C	18	14782616	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1570+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1570+2T>C;ENST00000580206:exon12:c.1570+2T>C;ENST00000447268:exon12:c.1570+2T>C)	.	.	0.894263547976499	0.472
18	14782615	T	G	18	14782616	y	y	splicing	ANKRD30B(NM_001145029:exon12:c.1570+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon12:c.1570+2T>G;ENST00000580206:exon12:c.1570+2T>G;ENST00000447268:exon12:c.1570+2T>G)	.	.	0.999956637462794	0.758
18	14782616	A	C	18	14782617	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.968086041761984	0.696
18	14782616	A	G	18	14782617	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00330820636538994	0.116
18	14782616	A	T	18	14782617	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.945652306837771	0.58
18	14782617	A	C	18	14782618	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.228591372910943	0.376
18	14782617	A	G	18	14782618	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.304605880820719	0.474
18	14782617	A	T	18	14782618	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.24582009323321	0.43
18	14782618	G	A	18	14782619	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.886542169434787	0.506
18	14782618	G	C	18	14782619	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.632274639224791	0.464
18	14782618	G	T	18	14782619	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.820006392719633	0.474
18	14782619	A	C	18	14782620	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.03270713790958E-5	0.014
18	14782619	A	G	18	14782620	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.70642530249343E-5	0.004
18	14782619	A	T	18	14782620	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.63179201713339E-5	0.006
18	14782620	A	C	18	14782621	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.6332628707223E-5	0.022
18	14782620	A	G	18	14782621	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22179129443748E-4	0.01
18	14782620	A	T	18	14782621	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22179129443748E-4	0.002
18	14782621	C	A	18	14782622	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.08753463150964E-5	0.194
18	14782621	C	G	18	14782622	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.90393365886932E-5	0.082
18	14782621	C	T	18	14782622	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.30021485780685E-5	0.03
18	14784323	T	A	18	14784324	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0133727245884354	0.324
18	14784323	T	C	18	14784324	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.77152422215684E-5	0.0
18	14784323	T	G	18	14784324	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00188070837734216	0.266
18	14784324	T	A	18	14784325	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.83973386745848	0.572
18	14784324	T	C	18	14784325	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00307406098779333	0.162
18	14784324	T	G	18	14784325	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.826126922451975	0.558
18	14784325	T	A	18	14784326	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99987744722644	0.98
18	14784325	T	C	18	14784326	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.0785674686385E-4	0.02
18	14784325	T	G	18	14784326	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.273021078545224	0.444
18	14784326	G	A	18	14784327	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.58483078059458E-5	0.03
18	14784326	G	C	18	14784327	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.86223385662128E-5	0.01
18	14784326	G	T	18	14784327	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.92107331219879E-5	0.004
18	14784327	C	A	18	14784328	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.61140121021718E-4	0.064
18	14784327	C	G	18	14784328	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.71496220372307E-4	0.112
18	14784327	C	T	18	14784328	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.59191402818344E-5	0.014
18	14784328	A	C	18	14784329	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.48052969579136E-5	0.004
18	14784328	A	G	18	14784329	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.28475376997949E-5	0.0
18	14784328	A	T	18	14784329	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.55908716824608E-5	0.0
18	14784329	T	A	18	14784330	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.624951599991997	0.484
18	14784329	T	C	18	14784330	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.38083796203506E-4	0.062
18	14784329	T	G	18	14784330	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999866358212301	0.96
18	14784330	T	A	18	14784331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993142275050971	0.564
18	14784330	T	C	18	14784331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00218084674029695	0.106
18	14784330	T	G	18	14784331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.967968241389171	0.526
18	14784331	T	A	18	14784332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.22029579540976E-4	0.048
18	14784331	T	C	18	14784332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.21607120565705E-5	0.038
18	14784331	T	G	18	14784332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.4695413936901E-5	0.01
18	14784332	T	A	18	14784333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00415603586622608	0.196
18	14784332	T	C	18	14784333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.86272396391888E-5	0.018
18	14784332	T	G	18	14784333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.755326205530284	0.682
18	14784333	A	C	18	14784334	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1571-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1571-2A>C;ENST00000580206:exon13:c.1571-2A>C;ENST00000447268:exon13:c.1571-2A>C)	.	.	0.99996947969426	0.756
18	14784333	A	G	18	14784334	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1571-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1571-2A>G;ENST00000580206:exon13:c.1571-2A>G;ENST00000447268:exon13:c.1571-2A>G)	.	.	0.99996947969426	0.756
18	14784333	A	T	18	14784334	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1571-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1571-2A>T;ENST00000580206:exon13:c.1571-2A>T;ENST00000447268:exon13:c.1571-2A>T)	.	.	0.99996947969426	0.762
18	14784334	G	A	18	14784335	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1571-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1571-1G>A;ENST00000580206:exon13:c.1571-1G>A;ENST00000447268:exon13:c.1571-1G>A)	.	.	0.99996947969426	0.754
18	14784334	G	C	18	14784335	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1571-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1571-1G>C;ENST00000580206:exon13:c.1571-1G>C;ENST00000447268:exon13:c.1571-1G>C)	.	.	0.99996947969426	0.752
18	14784334	G	T	18	14784335	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1571-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1571-1G>T;ENST00000580206:exon13:c.1571-1G>T;ENST00000447268:exon13:c.1571-1G>T)	.	.	0.99996947969426	0.752
18	14784335	A	C	18	14784336	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.A1571C:p.E524A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.A1571C:p.E524A;ENSG00000180777:ENST00000358984:exon13:c.A1571C:p.E524A;ENSG00000180777:ENST00000447268:exon13:c.A1571C:p.E524A;	2.14343647147227E-4	0.018
18	14784335	A	G	18	14784336	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.A1571G:p.E524G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.A1571G:p.E524G;ENSG00000180777:ENST00000358984:exon13:c.A1571G:p.E524G;ENSG00000180777:ENST00000447268:exon13:c.A1571G:p.E524G;	1.72839553802262E-4	0.0
18	14784335	A	T	18	14784336	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.A1571T:p.E524V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.A1571T:p.E524V;ENSG00000180777:ENST00000358984:exon13:c.A1571T:p.E524V;ENSG00000180777:ENST00000447268:exon13:c.A1571T:p.E524V;	0.00128686994445023	0.03
18	14784336	G	A	18	14784337	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon13:c.G1572A:p.E524E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.G1572A:p.E524E;ENSG00000180777:ENST00000358984:exon13:c.G1572A:p.E524E;ENSG00000180777:ENST00000447268:exon13:c.G1572A:p.E524E;	5.52238419363366E-5	0.01
18	14784336	G	C	18	14784337	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.G1572C:p.E524D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.G1572C:p.E524D;ENSG00000180777:ENST00000358984:exon13:c.G1572C:p.E524D;ENSG00000180777:ENST00000447268:exon13:c.G1572C:p.E524D;	1.1761593379355E-4	0.0
18	14784336	G	T	18	14784337	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.G1572T:p.E524D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.G1572T:p.E524D;ENSG00000180777:ENST00000358984:exon13:c.G1572T:p.E524D;ENSG00000180777:ENST00000447268:exon13:c.G1572T:p.E524D;	1.55547576763713E-4	0.0
18	14784361	A	C	18	14784362	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.A1597C:p.K533Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.A1597C:p.K533Q;ENSG00000180777:ENST00000358984:exon13:c.A1597C:p.K533Q;ENSG00000180777:ENST00000447268:exon13:c.A1597C:p.K533Q;	2.39346532577592E-4	0.098
18	14784361	A	G	18	14784362	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.A1597G:p.K533E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.A1597G:p.K533E;ENSG00000180777:ENST00000358984:exon13:c.A1597G:p.K533E;ENSG00000180777:ENST00000447268:exon13:c.A1597G:p.K533E;	1.06875143907721E-4	0.002
18	14784361	A	T	18	14784362	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon13:c.A1597T:p.K533X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon13:c.A1597T:p.K533X;ENSG00000180777:ENST00000358984:exon13:c.A1597T:p.K533X;ENSG00000180777:ENST00000447268:exon13:c.A1597T:p.K533X;	0.272406087590189	0.618
18	14784362	A	C	18	14784363	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.A1598C:p.K533T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.A1598C:p.K533T;ENSG00000180777:ENST00000358984:exon13:c.A1598C:p.K533T;ENSG00000180777:ENST00000447268:exon13:c.A1598C:p.K533T;	0.936806105530736	0.784
18	14784362	A	G	18	14784363	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.A1598G:p.K533R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.A1598G:p.K533R;ENSG00000180777:ENST00000358984:exon13:c.A1598G:p.K533R;ENSG00000180777:ENST00000447268:exon13:c.A1598G:p.K533R;	0.989520371767126	0.83
18	14784362	A	T	18	14784363	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.A1598T:p.K533M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.A1598T:p.K533M;ENSG00000180777:ENST00000358984:exon13:c.A1598T:p.K533M;ENSG00000180777:ENST00000447268:exon13:c.A1598T:p.K533M;	0.995094530176622	0.85
18	14784363	G	A	18	14784364	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon13:c.G1599A:p.K533K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.G1599A:p.K533K;ENSG00000180777:ENST00000358984:exon13:c.G1599A:p.K533K;ENSG00000180777:ENST00000447268:exon13:c.G1599A:p.K533K;	0.999956680958987	0.934
18	14784363	G	C	18	14784364	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.G1599C:p.K533N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.G1599C:p.K533N;ENSG00000180777:ENST00000358984:exon13:c.G1599C:p.K533N;ENSG00000180777:ENST00000447268:exon13:c.G1599C:p.K533N;	0.999975480412162	0.98
18	14784363	G	T	18	14784364	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon13:c.G1599T:p.K533N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon13:c.G1599T:p.K533N;ENSG00000180777:ENST00000358984:exon13:c.G1599T:p.K533N;ENSG00000180777:ENST00000447268:exon13:c.G1599T:p.K533N;	0.999974226539617	0.988
18	14784364	G	A	18	14784365	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1599+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1599+1G>A;ENST00000580206:exon13:c.1599+1G>A;ENST00000447268:exon13:c.1599+1G>A)	.	.	0.999933297680006	0.782
18	14784364	G	C	18	14784365	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1599+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1599+1G>C;ENST00000580206:exon13:c.1599+1G>C;ENST00000447268:exon13:c.1599+1G>C)	.	.	0.999933297680006	0.778
18	14784364	G	T	18	14784365	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1599+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1599+1G>T;ENST00000580206:exon13:c.1599+1G>T;ENST00000447268:exon13:c.1599+1G>T)	.	.	0.999933297680006	0.78
18	14784365	T	A	18	14784366	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1599+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1599+2T>A;ENST00000580206:exon13:c.1599+2T>A;ENST00000447268:exon13:c.1599+2T>A)	.	.	0.999933297680006	0.792
18	14784365	T	C	18	14784366	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1599+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1599+2T>C;ENST00000580206:exon13:c.1599+2T>C;ENST00000447268:exon13:c.1599+2T>C)	.	.	0.853200859595829	0.468
18	14784365	T	G	18	14784366	y	y	splicing	ANKRD30B(NM_001145029:exon13:c.1599+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon13:c.1599+2T>G;ENST00000580206:exon13:c.1599+2T>G;ENST00000447268:exon13:c.1599+2T>G)	.	.	0.999933297680006	0.782
18	14784366	A	C	18	14784367	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998224777067167	0.808
18	14784366	A	G	18	14784367	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.968820256441495	0.67
18	14784366	A	T	18	14784367	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997617486343827	0.804
18	14784367	T	A	18	14784368	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.13460842528845E-5	0.086
18	14784367	T	C	18	14784368	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.09937223711052E-5	0.002
18	14784367	T	G	18	14784368	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.29804528873334E-5	0.0
18	14784368	T	A	18	14784369	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.01908439759525E-5	0.012
18	14784368	T	C	18	14784369	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.76393134622522E-5	0.012
18	14784368	T	G	18	14784369	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.19037820286819E-5	0.108
18	14784369	T	A	18	14784370	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.28545475995208E-5	0.054
18	14784369	T	C	18	14784370	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.01523531942383E-4	0.09
18	14784369	T	G	18	14784370	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.63060472583082E-5	0.07
18	14784370	A	C	18	14784371	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.35330400841897E-5	0.018
18	14784370	A	G	18	14784371	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.35936126851043E-5	0.038
18	14784370	A	T	18	14784371	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.23704378881745E-5	0.024
18	14784371	G	A	18	14784372	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.49670331258397E-6	0.0
18	14784371	G	C	18	14784372	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.49670331258397E-6	0.004
18	14784371	G	T	18	14784372	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.49670331258397E-6	0.002
18	14784450	A	C	18	14784451	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14127032101363E-5	0.0
18	14784450	A	G	18	14784451	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.09684233209723E-5	0.024
18	14784450	A	T	18	14784451	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.63518332608905E-5	0.026
18	14784451	A	C	18	14784452	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.37977426630093E-5	0.0
18	14784451	A	G	18	14784452	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993706030955882	0.906
18	14784451	A	T	18	14784452	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.71941091668591E-5	0.096
18	14784452	A	C	18	14784453	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.40379713286201E-5	0.004
18	14784452	A	G	18	14784453	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.990141554603869	0.92
18	14784452	A	T	18	14784453	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.7318975508101E-5	0.05
18	14784453	C	A	18	14784454	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02617239671976E-4	0.122
18	14784453	C	G	18	14784454	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997308901308236	0.926
18	14784453	C	T	18	14784454	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.35596834527089E-5	0.0
18	14784454	C	A	18	14784455	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00845190738534508	0.288
18	14784454	C	G	18	14784455	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00832898184037325	0.276
18	14784454	C	T	18	14784455	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.20870358053142E-5	0.01
18	14784455	C	A	18	14784456	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.46847453925418E-4	0.224
18	14784455	C	G	18	14784456	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.77022119012292E-4	0.192
18	14784455	C	T	18	14784456	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.06440004055109E-5	0.002
18	14784456	A	C	18	14784457	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.25935613435615E-5	0.052
18	14784456	A	G	18	14784457	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.30649102510017E-5	0.004
18	14784456	A	T	18	14784457	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.07084114251852E-5	0.03
18	14784457	T	A	18	14784458	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.785355539068924	0.664
18	14784457	T	C	18	14784458	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00589113980307813	0.23
18	14784457	T	G	18	14784458	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999353450798163	0.904
18	14784458	T	A	18	14784459	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.78469850057926E-5	0.008
18	14784458	T	C	18	14784459	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.99599868330665E-5	0.008
18	14784458	T	G	18	14784459	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.79407804230306E-5	0.016
18	14784459	T	A	18	14784460	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0359141433714405	0.308
18	14784459	T	C	18	14784460	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.69224588517963E-5	0.034
18	14784459	T	G	18	14784460	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.490970128869475	0.534
18	14784460	A	C	18	14784461	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1600-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1600-2A>C;ENST00000580206:exon14:c.1600-2A>C;ENST00000447268:exon14:c.1600-2A>C)	.	.	0.999619755915597	0.752
18	14784460	A	G	18	14784461	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1600-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1600-2A>G;ENST00000580206:exon14:c.1600-2A>G;ENST00000447268:exon14:c.1600-2A>G)	.	.	0.999619755915597	0.752
18	14784460	A	T	18	14784461	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1600-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1600-2A>T;ENST00000580206:exon14:c.1600-2A>T;ENST00000447268:exon14:c.1600-2A>T)	.	.	0.999619755915597	0.756
18	14784461	G	A	18	14784462	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1600-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1600-1G>A;ENST00000580206:exon14:c.1600-1G>A;ENST00000447268:exon14:c.1600-1G>A)	.	.	0.999619755915597	0.766
18	14784461	G	C	18	14784462	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1600-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1600-1G>C;ENST00000580206:exon14:c.1600-1G>C;ENST00000447268:exon14:c.1600-1G>C)	.	.	0.999619755915597	0.766
18	14784461	G	T	18	14784462	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1600-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1600-1G>T;ENST00000580206:exon14:c.1600-1G>T;ENST00000447268:exon14:c.1600-1G>T)	.	.	0.999619755915597	0.768
18	14784462	C	A	18	14784463	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1600A:p.P534T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1600A:p.P534T;ENSG00000180777:ENST00000358984:exon14:c.C1600A:p.P534T;ENSG00000180777:ENST00000447268:exon14:c.C1600A:p.P534T;	8.96069522833483E-5	0.0
18	14784462	C	G	18	14784463	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1600G:p.P534A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1600G:p.P534A;ENSG00000180777:ENST00000358984:exon14:c.C1600G:p.P534A;ENSG00000180777:ENST00000447268:exon14:c.C1600G:p.P534A;	0.00141866996490891	0.134
18	14784462	C	T	18	14784463	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1600T:p.P534S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1600T:p.P534S;ENSG00000180777:ENST00000358984:exon14:c.C1600T:p.P534S;ENSG00000180777:ENST00000447268:exon14:c.C1600T:p.P534S;	9.29722492169795E-5	0.038
18	14784463	C	A	18	14784464	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1601A:p.P534H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1601A:p.P534H;ENSG00000180777:ENST00000358984:exon14:c.C1601A:p.P534H;ENSG00000180777:ENST00000447268:exon14:c.C1601A:p.P534H;	3.42889167573907E-4	0.026
18	14784463	C	G	18	14784464	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1601G:p.P534R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1601G:p.P534R;ENSG00000180777:ENST00000358984:exon14:c.C1601G:p.P534R;ENSG00000180777:ENST00000447268:exon14:c.C1601G:p.P534R;	6.15573924596203E-4	0.018
18	14784463	C	T	18	14784464	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1601T:p.P534L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1601T:p.P534L;ENSG00000180777:ENST00000358984:exon14:c.C1601T:p.P534L;ENSG00000180777:ENST00000447268:exon14:c.C1601T:p.P534L;	6.32251052301129E-4	0.038
18	14784532	C	A	18	14784533	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1670A:p.A557E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1670A:p.A557E;ENSG00000180777:ENST00000358984:exon14:c.C1670A:p.A557E;ENSG00000180777:ENST00000447268:exon14:c.C1670A:p.A557E;	1.01676088050815E-5	0.012
18	14784532	C	G	18	14784533	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1670G:p.A557G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1670G:p.A557G;ENSG00000180777:ENST00000358984:exon14:c.C1670G:p.A557G;ENSG00000180777:ENST00000447268:exon14:c.C1670G:p.A557G;	3.97148948496004E-5	0.004
18	14784532	C	T	18	14784533	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.C1670T:p.A557V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.C1670T:p.A557V;ENSG00000180777:ENST00000358984:exon14:c.C1670T:p.A557V;ENSG00000180777:ENST00000447268:exon14:c.C1670T:p.A557V;	0.00946368379267347	0.136
18	14784533	A	C	18	14784534	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon14:c.A1671C:p.A557A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.A1671C:p.A557A;ENSG00000180777:ENST00000358984:exon14:c.A1671C:p.A557A;ENSG00000180777:ENST00000447268:exon14:c.A1671C:p.A557A;	0.0256785158695821	0.416
18	14784533	A	G	18	14784534	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon14:c.A1671G:p.A557A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.A1671G:p.A557A;ENSG00000180777:ENST00000358984:exon14:c.A1671G:p.A557A;ENSG00000180777:ENST00000447268:exon14:c.A1671G:p.A557A;	0.0978835954938981	0.346
18	14784533	A	T	18	14784534	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon14:c.A1671T:p.A557A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.A1671T:p.A557A;ENSG00000180777:ENST00000358984:exon14:c.A1671T:p.A557A;ENSG00000180777:ENST00000447268:exon14:c.A1671T:p.A557A;	0.172050384467879	0.372
18	14784534	G	A	18	14784535	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.G1672A:p.A558T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.G1672A:p.A558T;ENSG00000180777:ENST00000358984:exon14:c.G1672A:p.A558T;ENSG00000180777:ENST00000447268:exon14:c.G1672A:p.A558T;	0.999178514566027	0.902
18	14784534	G	C	18	14784535	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.G1672C:p.A558P;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.G1672C:p.A558P;ENSG00000180777:ENST00000358984:exon14:c.G1672C:p.A558P;ENSG00000180777:ENST00000447268:exon14:c.G1672C:p.A558P;	0.999990627686024	0.938
18	14784534	G	T	18	14784535	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon14:c.G1672T:p.A558S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon14:c.G1672T:p.A558S;ENSG00000180777:ENST00000358984:exon14:c.G1672T:p.A558S;ENSG00000180777:ENST00000447268:exon14:c.G1672T:p.A558S;	0.999430894768745	0.888
18	14784535	G	A	18	14784536	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1672+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1672+1G>A;ENST00000580206:exon14:c.1672+1G>A;ENST00000447268:exon14:c.1672+1G>A)	.	.	0.99996947969426	0.746
18	14784535	G	C	18	14784536	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1672+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1672+1G>C;ENST00000580206:exon14:c.1672+1G>C;ENST00000447268:exon14:c.1672+1G>C)	.	.	0.99996947969426	0.75
18	14784535	G	T	18	14784536	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1672+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1672+1G>T;ENST00000580206:exon14:c.1672+1G>T;ENST00000447268:exon14:c.1672+1G>T)	.	.	0.99996947969426	0.754
18	14784536	T	A	18	14784537	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1672+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1672+2T>A;ENST00000580206:exon14:c.1672+2T>A;ENST00000447268:exon14:c.1672+2T>A)	.	.	0.99996947969426	0.772
18	14784536	T	C	18	14784537	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1672+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1672+2T>C;ENST00000580206:exon14:c.1672+2T>C;ENST00000447268:exon14:c.1672+2T>C)	.	.	0.94768146540498	0.496
18	14784536	T	G	18	14784537	y	y	splicing	ANKRD30B(NM_001145029:exon14:c.1672+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon14:c.1672+2T>G;ENST00000580206:exon14:c.1672+2T>G;ENST00000447268:exon14:c.1672+2T>G)	.	.	0.99996947969426	0.768
18	14784537	A	C	18	14784538	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998466758725246	0.736
18	14784537	A	G	18	14784538	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.284671290251164	0.494
18	14784537	A	T	18	14784538	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99796751673588	0.684
18	14784538	A	C	18	14784539	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.394162645135819	0.318
18	14784538	A	G	18	14784539	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.449417471317144	0.456
18	14784538	A	T	18	14784539	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.434014289458939	0.466
18	14784539	A	C	18	14784540	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.2480884082066E-5	0.022
18	14784539	A	G	18	14784540	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.21327982874804E-4	0.074
18	14784539	A	T	18	14784540	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.99527787184797E-5	0.004
18	14784540	T	A	18	14784541	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00670845290318899	0.218
18	14784540	T	C	18	14784541	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0276995796059876	0.316
18	14784540	T	G	18	14784541	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00113467744721776	0.228
18	14784541	T	A	18	14784542	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.33369388161609E-5	0.0
18	14784541	T	C	18	14784542	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.316319471564E-5	0.0
18	14784541	T	G	18	14784542	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.44238524956555E-5	0.0
18	14784542	T	A	18	14784543	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.002
18	14784542	T	C	18	14784543	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.25991989402043E-6	0.0
18	14784542	T	G	18	14784543	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.30875347875381E-5	0.0
18	14787026	A	C	18	14787027	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.66003333203772E-4	0.004
18	14787026	A	G	18	14787027	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.90500402430241E-4	0.042
18	14787026	A	T	18	14787027	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.45469878145273E-4	0.008
18	14787027	A	C	18	14787028	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.06846629899342E-4	0.004
18	14787027	A	G	18	14787028	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997644957627929	0.986
18	14787027	A	T	18	14787028	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00110124976054023	0.104
18	14787028	C	A	18	14787029	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00117655796619625	0.038
18	14787028	C	G	18	14787029	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999929710078421	0.998
18	14787028	C	T	18	14787029	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.92373211338271E-4	0.004
18	14787029	C	A	18	14787030	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.03531228576848E-4	0.04
18	14787029	C	G	18	14787030	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.58522841520312E-4	0.062
18	14787029	C	T	18	14787030	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.64873262430791E-5	0.0
18	14787030	T	A	18	14787031	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0526151835495076	0.262
18	14787030	T	C	18	14787031	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.07892647185706E-5	0.012
18	14787030	T	G	18	14787031	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0354817007528331	0.24
18	14787031	T	A	18	14787032	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.026562663110669	0.116
18	14787031	T	C	18	14787032	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.16426349421294E-5	0.008
18	14787031	T	G	18	14787032	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0588054113164655	0.168
18	14787032	T	A	18	14787033	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.648759850601156	0.44
18	14787032	T	C	18	14787033	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.8707963266347E-5	0.018
18	14787032	T	G	18	14787033	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.636230721918385	0.444
18	14787033	T	A	18	14787034	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.923940345319608	0.552
18	14787033	T	C	18	14787034	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00423076069362908	0.05
18	14787033	T	G	18	14787034	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.947683562350022	0.586
18	14787034	A	C	18	14787035	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.2508030363798E-4	0.06
18	14787034	A	G	18	14787035	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.88153610326648E-4	0.074
18	14787034	A	T	18	14787035	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.08563182158501E-4	0.012
18	14787035	T	A	18	14787036	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00804960403010307	0.246
18	14787035	T	C	18	14787036	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.48351778310417E-4	0.068
18	14787035	T	G	18	14787036	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998647880413603	0.744
18	14787036	A	C	18	14787037	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1673-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1673-2A>C;ENST00000580206:exon15:c.1673-2A>C;ENST00000447268:exon15:c.1673-2A>C)	.	.	0.99996947969426	0.774
18	14787036	A	G	18	14787037	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1673-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1673-2A>G;ENST00000580206:exon15:c.1673-2A>G;ENST00000447268:exon15:c.1673-2A>G)	.	.	0.99996947969426	0.774
18	14787036	A	T	18	14787037	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1673-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1673-2A>T;ENST00000580206:exon15:c.1673-2A>T;ENST00000447268:exon15:c.1673-2A>T)	.	.	0.99996947969426	0.774
18	14787037	G	A	18	14787038	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1673-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1673-1G>A;ENST00000580206:exon15:c.1673-1G>A;ENST00000447268:exon15:c.1673-1G>A)	.	.	0.99996947969426	0.768
18	14787037	G	C	18	14787038	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1673-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1673-1G>C;ENST00000580206:exon15:c.1673-1G>C;ENST00000447268:exon15:c.1673-1G>C)	.	.	0.99996947969426	0.756
18	14787037	G	T	18	14787038	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1673-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1673-1G>T;ENST00000580206:exon15:c.1673-1G>T;ENST00000447268:exon15:c.1673-1G>T)	.	.	0.99996947969426	0.748
18	14787038	C	A	18	14787039	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.C1673A:p.A558D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.C1673A:p.A558D;ENSG00000180777:ENST00000358984:exon15:c.C1673A:p.A558D;ENSG00000180777:ENST00000447268:exon15:c.C1673A:p.A558D;	2.03272425293411E-5	0.0
18	14787038	C	G	18	14787039	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.C1673G:p.A558G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.C1673G:p.A558G;ENSG00000180777:ENST00000358984:exon15:c.C1673G:p.A558G;ENSG00000180777:ENST00000447268:exon15:c.C1673G:p.A558G;	3.77948443598862E-5	0.072
18	14787038	C	T	18	14787039	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.C1673T:p.A558V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.C1673T:p.A558V;ENSG00000180777:ENST00000358984:exon15:c.C1673T:p.A558V;ENSG00000180777:ENST00000447268:exon15:c.C1673T:p.A558V;	4.30975148483267E-5	0.044
18	14787039	T	A	18	14787040	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon15:c.T1674A:p.A558A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.T1674A:p.A558A;ENSG00000180777:ENST00000358984:exon15:c.T1674A:p.A558A;ENSG00000180777:ENST00000447268:exon15:c.T1674A:p.A558A;	8.5375035184009E-5	0.058
18	14787039	T	C	18	14787040	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon15:c.T1674C:p.A558A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.T1674C:p.A558A;ENSG00000180777:ENST00000358984:exon15:c.T1674C:p.A558A;ENSG00000180777:ENST00000447268:exon15:c.T1674C:p.A558A;	9.59739583999498E-5	0.04
18	14787039	T	G	18	14787040	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon15:c.T1674G:p.A558A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.T1674G:p.A558A;ENSG00000180777:ENST00000358984:exon15:c.T1674G:p.A558A;ENSG00000180777:ENST00000447268:exon15:c.T1674G:p.A558A;	4.5317738256335E-5	0.048
18	14787097	G	A	18	14787098	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.G1732A:p.E578K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.G1732A:p.E578K;ENSG00000180777:ENST00000358984:exon15:c.G1732A:p.E578K;ENSG00000180777:ENST00000447268:exon15:c.G1732A:p.E578K;	0.00214384470272389	0.102
18	14787097	G	C	18	14787098	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.G1732C:p.E578Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.G1732C:p.E578Q;ENSG00000180777:ENST00000358984:exon15:c.G1732C:p.E578Q;ENSG00000180777:ENST00000447268:exon15:c.G1732C:p.E578Q;	0.00136570156264093	0.012
18	14787097	G	T	18	14787098	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon15:c.G1732T:p.E578X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000580206:exon15:c.G1732T:p.E578X;ENSG00000180777:ENST00000358984:exon15:c.G1732T:p.E578X;ENSG00000180777:ENST00000447268:exon15:c.G1732T:p.E578X;	0.217047492162667	0.308
18	14787098	A	C	18	14787099	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.A1733C:p.E578A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.A1733C:p.E578A;ENSG00000180777:ENST00000358984:exon15:c.A1733C:p.E578A;ENSG00000180777:ENST00000447268:exon15:c.A1733C:p.E578A;	0.998475838075037	0.936
18	14787098	A	G	18	14787099	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.A1733G:p.E578G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.A1733G:p.E578G;ENSG00000180777:ENST00000358984:exon15:c.A1733G:p.E578G;ENSG00000180777:ENST00000447268:exon15:c.A1733G:p.E578G;	0.999952939284717	0.962
18	14787098	A	T	18	14787099	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.A1733T:p.E578V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.A1733T:p.E578V;ENSG00000180777:ENST00000358984:exon15:c.A1733T:p.E578V;ENSG00000180777:ENST00000447268:exon15:c.A1733T:p.E578V;	0.99993587229152	0.924
18	14787099	G	A	18	14787100	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon15:c.G1734A:p.E578E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.G1734A:p.E578E;ENSG00000180777:ENST00000358984:exon15:c.G1734A:p.E578E;ENSG00000180777:ENST00000447268:exon15:c.G1734A:p.E578E;	0.999989819425925	0.912
18	14787099	G	C	18	14787100	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.G1734C:p.E578D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.G1734C:p.E578D;ENSG00000180777:ENST00000358984:exon15:c.G1734C:p.E578D;ENSG00000180777:ENST00000447268:exon15:c.G1734C:p.E578D;	0.99998898156328	0.99
18	14787099	G	T	18	14787100	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon15:c.G1734T:p.E578D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon15:c.G1734T:p.E578D;ENSG00000180777:ENST00000358984:exon15:c.G1734T:p.E578D;ENSG00000180777:ENST00000447268:exon15:c.G1734T:p.E578D;	0.999986846473937	0.978
18	14787100	G	A	18	14787101	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1734+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1734+1G>A;ENST00000580206:exon15:c.1734+1G>A;ENST00000447268:exon15:c.1734+1G>A)	.	.	0.99996947969426	0.782
18	14787100	G	C	18	14787101	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1734+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1734+1G>C;ENST00000580206:exon15:c.1734+1G>C;ENST00000447268:exon15:c.1734+1G>C)	.	.	0.99996947969426	0.782
18	14787100	G	T	18	14787101	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1734+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1734+1G>T;ENST00000580206:exon15:c.1734+1G>T;ENST00000447268:exon15:c.1734+1G>T)	.	.	0.99996947969426	0.782
18	14787101	T	A	18	14787102	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1734+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1734+2T>A;ENST00000580206:exon15:c.1734+2T>A;ENST00000447268:exon15:c.1734+2T>A)	.	.	0.999962956133083	0.78
18	14787101	T	C	18	14787102	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1734+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1734+2T>C;ENST00000580206:exon15:c.1734+2T>C;ENST00000447268:exon15:c.1734+2T>C)	.	.	0.926253843010219	0.476
18	14787101	T	G	18	14787102	y	y	splicing	ANKRD30B(NM_001145029:exon15:c.1734+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon15:c.1734+2T>G;ENST00000580206:exon15:c.1734+2T>G;ENST00000447268:exon15:c.1734+2T>G)	.	.	0.99996947969426	0.784
18	14787102	A	C	18	14787103	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999933040748276	0.836
18	14787102	A	G	18	14787103	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999540737193694	0.778
18	14787102	A	T	18	14787103	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999957193652458	0.862
18	14787103	C	A	18	14787104	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.01299701999398E-4	0.222
18	14787103	C	G	18	14787104	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00142917781149724	0.128
18	14787103	C	T	18	14787104	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.86896085271403E-4	0.046
18	14787104	T	A	18	14787105	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.79180748389896E-5	0.072
18	14787104	T	C	18	14787105	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.12043854685718E-5	0.002
18	14787104	T	G	18	14787105	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.64020027839555E-5	0.004
18	14787105	A	C	18	14787106	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.76388122975384E-4	0.032
18	14787105	A	G	18	14787106	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.16065831213588E-4	0.004
18	14787105	A	T	18	14787106	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.21082409803242E-5	0.068
18	14787106	T	A	18	14787107	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.82524559021363E-5	0.0
18	14787106	T	C	18	14787107	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.17246496461593E-5	0.0
18	14787106	T	G	18	14787107	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.17246496461593E-5	0.0
18	14787107	G	A	18	14787108	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.79414490267221E-6	0.028
18	14787107	G	C	18	14787108	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.36602860347255E-5	0.074
18	14787107	G	T	18	14787108	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.79414490267221E-6	0.024
18	14791388	T	A	18	14791389	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.300240185316708	0.468
18	14791388	T	C	18	14791389	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.4400798100157E-4	0.062
18	14791388	T	G	18	14791389	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0241784487778289	0.342
18	14791389	A	C	18	14791390	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.74306450938307E-5	0.03
18	14791389	A	G	18	14791390	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.93573447897168E-5	0.028
18	14791389	A	T	18	14791390	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.7907753586701E-5	0.124
18	14791390	C	A	18	14791391	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.99302613356097E-4	0.018
18	14791390	C	G	18	14791391	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.990408517200972	0.492
18	14791390	C	T	18	14791391	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.33684777350849E-5	0.0
18	14791391	T	A	18	14791392	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.19369795491075	0.372
18	14791391	T	C	18	14791392	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.7335588184819E-4	0.036
18	14791391	T	G	18	14791392	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0552733370319782	0.32
18	14791392	T	A	18	14791393	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.32047773308125	0.544
18	14791392	T	C	18	14791393	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.7727767194596E-5	0.066
18	14791392	T	G	18	14791393	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.168128765246716	0.478
18	14791393	T	A	18	14791394	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.206679070233175	0.552
18	14791393	T	C	18	14791394	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.0794111887198E-5	0.014
18	14791393	T	G	18	14791394	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.206679070233175	0.576
18	14791394	T	A	18	14791395	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0618988785629479	0.382
18	14791394	T	C	18	14791395	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.41898507767227E-5	0.058
18	14791394	T	G	18	14791395	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.793688098242947	0.586
18	14791395	A	C	18	14791396	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.52638842321116E-6	0.0
18	14791395	A	G	18	14791396	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.87283102464537E-4	0.022
18	14791395	A	T	18	14791396	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.02081836983597E-5	0.022
18	14791396	A	C	18	14791397	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.54761808445719E-4	0.092
18	14791396	A	G	18	14791397	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99952492646072	0.976
18	14791396	A	T	18	14791397	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.71504767802541E-4	0.07
18	14791397	C	A	18	14791398	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.996598355139143	0.766
18	14791397	C	G	18	14791398	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99941341051903	0.826
18	14791397	C	T	18	14791398	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.023892296026574	0.262
18	14791398	A	C	18	14791399	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1735-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1735-2A>C;ENST00000580206:exon16:c.1735-2A>C;ENST00000447268:exon16:c.1735-2A>C)	.	.	0.9999535374451	0.742
18	14791398	A	G	18	14791399	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1735-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1735-2A>G;ENST00000580206:exon16:c.1735-2A>G;ENST00000447268:exon16:c.1735-2A>G)	.	.	0.9999535374451	0.742
18	14791398	A	T	18	14791399	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1735-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1735-2A>T;ENST00000580206:exon16:c.1735-2A>T;ENST00000447268:exon16:c.1735-2A>T)	.	.	0.9999535374451	0.748
18	14791399	G	A	18	14791400	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1735-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1735-1G>A;ENST00000580206:exon16:c.1735-1G>A;ENST00000447268:exon16:c.1735-1G>A)	.	.	0.9999535374451	0.74
18	14791399	G	C	18	14791400	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1735-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1735-1G>C;ENST00000580206:exon16:c.1735-1G>C;ENST00000447268:exon16:c.1735-1G>C)	.	.	0.9999535374451	0.726
18	14791399	G	T	18	14791400	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1735-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1735-1G>T;ENST00000580206:exon16:c.1735-1G>T;ENST00000447268:exon16:c.1735-1G>T)	.	.	0.9999535374451	0.732
18	14791400	A	C	18	14791401	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1735C:p.S579R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1735C:p.S579R;ENSG00000180777:ENST00000358984:exon16:c.A1735C:p.S579R;ENSG00000180777:ENST00000447268:exon16:c.A1735C:p.S579R;	6.66820716305246E-4	0.068
18	14791400	A	G	18	14791401	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1735G:p.S579G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1735G:p.S579G;ENSG00000180777:ENST00000358984:exon16:c.A1735G:p.S579G;ENSG00000180777:ENST00000447268:exon16:c.A1735G:p.S579G;	4.55498123675861E-5	0.01
18	14791400	A	T	18	14791401	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1735T:p.S579C;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1735T:p.S579C;ENSG00000180777:ENST00000358984:exon16:c.A1735T:p.S579C;ENSG00000180777:ENST00000447268:exon16:c.A1735T:p.S579C;	0.00117656359273316	0.084
18	14791401	G	A	18	14791402	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.G1736A:p.S579N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.G1736A:p.S579N;ENSG00000180777:ENST00000358984:exon16:c.G1736A:p.S579N;ENSG00000180777:ENST00000447268:exon16:c.G1736A:p.S579N;	1.44875773601426E-5	0.0
18	14791401	G	C	18	14791402	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.G1736C:p.S579T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.G1736C:p.S579T;ENSG00000180777:ENST00000358984:exon16:c.G1736C:p.S579T;ENSG00000180777:ENST00000447268:exon16:c.G1736C:p.S579T;	2.34733690896339E-5	0.0
18	14791401	G	T	18	14791402	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.G1736T:p.S579I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.G1736T:p.S579I;ENSG00000180777:ENST00000358984:exon16:c.G1736T:p.S579I;ENSG00000180777:ENST00000447268:exon16:c.G1736T:p.S579I;	9.37764046673199E-6	0.0
18	14791488	A	C	18	14791489	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1823C:p.E608A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1823C:p.E608A;ENSG00000180777:ENST00000358984:exon16:c.A1823C:p.E608A;ENSG00000180777:ENST00000447268:exon16:c.A1823C:p.E608A;	2.51665554687866E-4	0.006
18	14791488	A	G	18	14791489	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1823G:p.E608G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1823G:p.E608G;ENSG00000180777:ENST00000358984:exon16:c.A1823G:p.E608G;ENSG00000180777:ENST00000447268:exon16:c.A1823G:p.E608G;	0.00246218635478307	0.014
18	14791488	A	T	18	14791489	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1823T:p.E608V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1823T:p.E608V;ENSG00000180777:ENST00000358984:exon16:c.A1823T:p.E608V;ENSG00000180777:ENST00000447268:exon16:c.A1823T:p.E608V;	0.00429706155114553	0.17
18	14791489	A	C	18	14791490	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1824C:p.E608D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1824C:p.E608D;ENSG00000180777:ENST00000358984:exon16:c.A1824C:p.E608D;ENSG00000180777:ENST00000447268:exon16:c.A1824C:p.E608D;	0.361657698809937	0.608
18	14791489	A	G	18	14791490	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1824G:p.E608E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1824G:p.E608E;ENSG00000180777:ENST00000358984:exon16:c.A1824G:p.E608E;ENSG00000180777:ENST00000447268:exon16:c.A1824G:p.E608E;	0.0893734733959289	0.354
18	14791489	A	T	18	14791490	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.A1824T:p.E608D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.A1824T:p.E608D;ENSG00000180777:ENST00000358984:exon16:c.A1824T:p.E608D;ENSG00000180777:ENST00000447268:exon16:c.A1824T:p.E608D;	0.422132391805853	0.432
18	14791490	G	A	18	14791491	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.G1825A:p.E609K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.G1825A:p.A609T;ENSG00000180777:ENST00000358984:exon16:c.G1825A:p.E609K;ENSG00000180777:ENST00000447268:exon16:c.G1825A:p.A609T;	0.964012900501824	0.81
18	14791490	G	C	18	14791491	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon16:c.G1825C:p.E609Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon16:c.G1825C:p.A609P;ENSG00000180777:ENST00000358984:exon16:c.G1825C:p.E609Q;ENSG00000180777:ENST00000447268:exon16:c.G1825C:p.A609P;	0.995269564394192	0.698
18	14791490	G	T	18	14791491	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon16:c.G1825T:p.E609X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon16:c.G1825T:p.E609X;	0.999714921809903	0.908
18	14791491	G	A	18	14791492	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1825+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1825+1G>A;ENST00000580206:exon16:c.1825+1G>A;ENST00000447268:exon16:c.1825+1G>A)	.	.	0.99996947969426	0.768
18	14791491	G	C	18	14791492	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1825+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1825+1G>C;ENST00000580206:exon16:c.1825+1G>C;ENST00000447268:exon16:c.1825+1G>C)	.	.	0.99996947969426	0.752
18	14791491	G	T	18	14791492	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1825+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1825+1G>T;ENST00000580206:exon16:c.1825+1G>T;ENST00000447268:exon16:c.1825+1G>T)	.	.	0.99996947969426	0.768
18	14791492	T	A	18	14791493	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1825+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1825+2T>A;ENST00000580206:exon16:c.1825+2T>A;ENST00000447268:exon16:c.1825+2T>A)	.	.	0.999968624618023	0.754
18	14791492	T	C	18	14791493	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1825+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1825+2T>C;ENST00000580206:exon16:c.1825+2T>C;ENST00000447268:exon16:c.1825+2T>C)	.	.	0.924972046172623	0.486
18	14791492	T	G	18	14791493	y	y	splicing	ANKRD30B(NM_001145029:exon16:c.1825+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon16:c.1825+2T>G;ENST00000580206:exon16:c.1825+2T>G;ENST00000447268:exon16:c.1825+2T>G)	.	.	0.999968624618023	0.75
18	14791493	A	C	18	14791494	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.969409661371851	0.722
18	14791493	A	G	18	14791494	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00276642809981439	0.14
18	14791493	A	T	18	14791494	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993307054169015	0.69
18	14791494	A	C	18	14791495	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0837184236985854	0.434
18	14791494	A	G	18	14791495	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.182853371986099	0.526
18	14791494	A	T	18	14791495	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.256079637423561	0.47
18	14791495	G	A	18	14791496	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.658842469617871	0.466
18	14791495	G	C	18	14791496	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.293338787324156	0.42
18	14791495	G	T	18	14791496	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.415585265996136	0.396
18	14791496	A	C	18	14791497	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.30923865549292E-5	0.03
18	14791496	A	G	18	14791497	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.43931640502094E-5	0.008
18	14791496	A	T	18	14791497	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.40136345236166E-5	0.016
18	14791497	A	C	18	14791498	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.74586225159984E-5	0.0
18	14791497	A	G	18	14791498	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.77457243820827E-5	0.0
18	14791497	A	T	18	14791498	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.74186360932733E-5	0.0
18	14791498	C	A	18	14791499	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.15020457490687E-5	0.0
18	14791498	C	G	18	14791499	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.15020457490687E-5	0.0
18	14791498	C	T	18	14791499	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.15020457490687E-5	0.0
18	14796208	C	A	18	14796209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.01012013176242E-5	0.008
18	14796208	C	G	18	14796209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.69296454188822E-5	0.024
18	14796208	C	T	18	14796209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.06423660160794E-6	0.006
18	14796209	T	A	18	14796210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.909906022898187	0.64
18	14796209	T	C	18	14796210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00331817890488661	0.136
18	14796209	T	G	18	14796210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.446645333633187	0.566
18	14796210	T	A	18	14796211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.6086960262999	0.514
18	14796210	T	C	18	14796211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.9177338161187E-4	0.064
18	14796210	T	G	18	14796211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.041088783979294	0.428
18	14796211	T	A	18	14796212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00347052446365024	0.294
18	14796211	T	C	18	14796212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.7553615046102E-5	0.034
18	14796211	T	G	18	14796212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0393630482830359	0.304
18	14796212	A	C	18	14796213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.76505056544086E-5	0.008
18	14796212	A	G	18	14796213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.50722075186259E-5	0.0
18	14796212	A	T	18	14796213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67944982512943E-5	0.0
18	14796213	C	A	18	14796214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999528757595884	0.738
18	14796213	C	G	18	14796214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99972800277218	0.732
18	14796213	C	T	18	14796214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.19037336224434E-6	0.002
18	14796214	G	A	18	14796215	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.01528421397292E-4	0.138
18	14796214	G	C	18	14796215	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.43468050591087E-5	0.004
18	14796214	G	T	18	14796215	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.44567246961622E-5	0.0
18	14796215	T	A	18	14796216	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.826956937708632	0.502
18	14796215	T	C	18	14796216	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.47751638110691E-4	0.026
18	14796215	T	G	18	14796216	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.959703146489766	0.592
18	14796216	T	A	18	14796217	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.32664301687183E-4	0.036
18	14796216	T	C	18	14796217	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.78120605049488E-4	0.028
18	14796216	T	G	18	14796217	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.35372405366315E-4	0.036
18	14796217	T	A	18	14796218	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.210762866498198	0.386
18	14796217	T	C	18	14796218	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.27797459435399E-5	0.034
18	14796217	T	G	18	14796218	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.985053063867662	0.66
18	14796218	A	C	18	14796219	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1826-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1826-2A>C)	.	.	0.999934238963947	0.742
18	14796218	A	G	18	14796219	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1826-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1826-2A>G)	.	.	0.999934238963947	0.74
18	14796218	A	T	18	14796219	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1826-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1826-2A>T)	.	.	0.999934238963947	0.756
18	14796219	G	A	18	14796220	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1826-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1826-1G>A)	.	.	0.999933297680006	0.748
18	14796219	G	C	18	14796220	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1826-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1826-1G>C)	.	.	0.999933297680006	0.732
18	14796219	G	T	18	14796220	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1826-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1826-1G>T)	.	.	0.999933297680006	0.74
18	14796220	A	C	18	14796221	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.A1826C:p.E609A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.A1826C:p.E609A;	0.00359594886379486	0.132
18	14796220	A	G	18	14796221	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.A1826G:p.E609G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.A1826G:p.E609G;	5.67925235078907E-4	0.092
18	14796220	A	T	18	14796221	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.A1826T:p.E609V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.A1826T:p.E609V;	0.00159159967490755	0.116
18	14796221	G	A	18	14796222	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon17:c.G1827A:p.E609E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.G1827A:p.E609E;	4.74182618917103E-5	0.014
18	14796221	G	C	18	14796222	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.G1827C:p.E609D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.G1827C:p.E609D;	3.44696012953024E-4	0.006
18	14796221	G	T	18	14796222	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.G1827T:p.E609D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.G1827T:p.E609D;	9.74582258059065E-5	0.01
18	14796246	A	C	18	14796247	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.A1852C:p.K618Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.A1852C:p.K618Q;	7.02925130209445E-6	0.054
18	14796246	A	G	18	14796247	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.A1852G:p.K618E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.A1852G:p.K618E;	1.39540316908166E-4	0.026
18	14796246	A	T	18	14796247	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon17:c.A1852T:p.K618X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon17:c.A1852T:p.K618X;	0.0765514256970274	0.316
18	14796247	A	C	18	14796248	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.A1853C:p.K618T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.A1853C:p.K618T;	0.835827279371694	0.66
18	14796247	A	G	18	14796248	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.A1853G:p.K618R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.A1853G:p.K618R;	0.984397173778599	0.738
18	14796247	A	T	18	14796248	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.A1853T:p.K618M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.A1853T:p.K618M;	0.994716253060453	0.754
18	14796248	G	A	18	14796249	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon17:c.G1854A:p.K618K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.G1854A:p.K618K;	0.999987028274394	0.966
18	14796248	G	C	18	14796249	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.G1854C:p.K618N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.G1854C:p.K618N;	0.999978636762278	0.974
18	14796248	G	T	18	14796249	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon17:c.G1854T:p.K618N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon17:c.G1854T:p.K618N;	0.999969388427091	0.966
18	14796249	G	A	18	14796250	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1854+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1854+1G>A)	.	.	0.99996947969426	0.75
18	14796249	G	C	18	14796250	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1854+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1854+1G>C)	.	.	0.99996947969426	0.75
18	14796249	G	T	18	14796250	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1854+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1854+1G>T)	.	.	0.99996947969426	0.75
18	14796250	T	A	18	14796251	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1854+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1854+2T>A)	.	.	0.999968624618023	0.748
18	14796250	T	C	18	14796251	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1854+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1854+2T>C)	.	.	0.964342044422216	0.52
18	14796250	T	G	18	14796251	y	y	splicing	ANKRD30B(NM_001145029:exon17:c.1854+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon17:c.1854+2T>G)	.	.	0.999968624618023	0.742
18	14796251	A	C	18	14796252	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999716919674187	0.818
18	14796251	A	G	18	14796252	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.82610886855985	0.566
18	14796251	A	T	18	14796252	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999725425816148	0.868
18	14796252	A	C	18	14796253	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.260419789452837	0.478
18	14796252	A	G	18	14796253	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.898299427201345	0.594
18	14796252	A	T	18	14796253	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.58812913707862	0.502
18	14796253	T	A	18	14796254	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.49861508403115E-5	0.006
18	14796253	T	C	18	14796254	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.09740216807318E-6	0.0
18	14796253	T	G	18	14796254	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.36419181703737E-5	0.008
18	14796254	A	C	18	14796255	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.41479852500142E-4	0.03
18	14796254	A	G	18	14796255	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.45121292571832E-5	0.0
18	14796254	A	T	18	14796255	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.13844931946379E-5	0.008
18	14796255	A	C	18	14796256	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.14717576740968E-5	0.0
18	14796255	A	G	18	14796256	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.61458817127529E-5	0.012
18	14796255	A	T	18	14796256	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.28754513567907E-4	0.018
18	14796256	C	A	18	14796257	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60019257739021E-5	0.042
18	14796256	C	G	18	14796257	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.30834045794942E-5	0.04
18	14796256	C	T	18	14796257	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.07261164601745E-5	0.042
18	14796330	A	C	18	14796331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.69733124471767E-5	0.006
18	14796330	A	G	18	14796331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.00833963751144E-5	0.028
18	14796330	A	T	18	14796331	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.96692296069032E-5	0.08
18	14796331	A	C	18	14796332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.3807927434943E-5	0.004
18	14796331	A	G	18	14796332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.996745580015345	0.954
18	14796331	A	T	18	14796332	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.27523440631618E-4	0.122
18	14796332	A	C	18	14796333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.95186324823886E-5	0.008
18	14796332	A	G	18	14796333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993494059212496	0.956
18	14796332	A	T	18	14796333	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.7318975508101E-5	0.052
18	14796333	C	A	18	14796334	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00141579435972986	0.206
18	14796333	C	G	18	14796334	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999087091428969	0.954
18	14796333	C	T	18	14796334	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.00109303456335E-5	0.004
18	14796334	C	A	18	14796335	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00369160476982544	0.254
18	14796334	C	G	18	14796335	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00315986728486134	0.23
18	14796334	C	T	18	14796335	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.44875885683575E-5	0.038
18	14796335	C	A	18	14796336	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.47742618653956E-4	0.262
18	14796335	C	G	18	14796336	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.75865985817781E-4	0.232
18	14796335	C	T	18	14796336	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.26990298008989E-5	0.012
18	14796336	A	C	18	14796337	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.96692296069032E-5	0.058
18	14796336	A	G	18	14796337	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.27959082706983E-5	0.004
18	14796336	A	T	18	14796337	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.25062146918511E-4	0.046
18	14796337	T	A	18	14796338	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.948845887159833	0.706
18	14796337	T	C	18	14796338	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00604043135789161	0.202
18	14796337	T	G	18	14796338	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999362569498193	0.906
18	14796338	T	A	18	14796339	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.08594943907356E-5	0.008
18	14796338	T	C	18	14796339	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.15819358236928E-5	0.006
18	14796338	T	G	18	14796339	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.38141014345853E-5	0.014
18	14796339	T	A	18	14796340	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0388907399018891	0.292
18	14796339	T	C	18	14796340	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.23858660641555E-5	0.028
18	14796339	T	G	18	14796340	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.388145001528761	0.518
18	14796340	A	C	18	14796341	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1855-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1855-2A>C;ENST00000580206:exon17:c.1826-2A>C;ENST00000447268:exon17:c.1826-2A>C)	.	.	0.999625120151861	0.732
18	14796340	A	G	18	14796341	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1855-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1855-2A>G;ENST00000580206:exon17:c.1826-2A>G;ENST00000447268:exon17:c.1826-2A>G)	.	.	0.999625120151861	0.728
18	14796340	A	T	18	14796341	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1855-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1855-2A>T;ENST00000580206:exon17:c.1826-2A>T;ENST00000447268:exon17:c.1826-2A>T)	.	.	0.999625120151861	0.728
18	14796341	G	A	18	14796342	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1855-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1855-1G>A;ENST00000580206:exon17:c.1826-1G>A;ENST00000447268:exon17:c.1826-1G>A)	.	.	0.999619755915597	0.748
18	14796341	G	C	18	14796342	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1855-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1855-1G>C;ENST00000580206:exon17:c.1826-1G>C;ENST00000447268:exon17:c.1826-1G>C)	.	.	0.999619755915597	0.75
18	14796341	G	T	18	14796342	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1855-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1855-1G>T;ENST00000580206:exon17:c.1826-1G>T;ENST00000447268:exon17:c.1826-1G>T)	.	.	0.999619755915597	0.748
18	14796342	C	A	18	14796343	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1855A:p.P619T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon17:c.C1826A:p.A609D;ENSG00000180777:ENST00000358984:exon18:c.C1855A:p.P619T;ENSG00000180777:ENST00000447268:exon17:c.C1826A:p.A609D;	8.37740383062884E-5	0.0
18	14796342	C	G	18	14796343	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1855G:p.P619A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon17:c.C1826G:p.A609G;ENSG00000180777:ENST00000358984:exon18:c.C1855G:p.P619A;ENSG00000180777:ENST00000447268:exon17:c.C1826G:p.A609G;	2.01577209997298E-4	0.138
18	14796342	C	T	18	14796343	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1855T:p.P619S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000580206:exon17:c.C1826T:p.A609V;ENSG00000180777:ENST00000358984:exon18:c.C1855T:p.P619S;ENSG00000180777:ENST00000447268:exon17:c.C1826T:p.A609V;	1.61092402251594E-4	0.118
18	14796343	C	A	18	14796344	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1856A:p.P619H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.C1856A:p.P619H;	1.49182114956251E-4	0.016
18	14796343	C	G	18	14796344	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1856G:p.P619R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.C1856G:p.P619R;	2.46888225806404E-5	0.04
18	14796343	C	T	18	14796344	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1856T:p.P619L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.C1856T:p.P619L;	7.58991298514205E-5	0.014
18	14796412	C	A	18	14796413	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1925A:p.A642E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.C1925A:p.A642E;	2.76635452933793E-4	0.038
18	14796412	C	G	18	14796413	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1925G:p.A642G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.C1925G:p.A642G;	1.77304741783079E-4	0.016
18	14796412	C	T	18	14796413	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.C1925T:p.A642V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.C1925T:p.A642V;	0.152842276890011	0.356
18	14796413	A	C	18	14796414	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon18:c.A1926C:p.A642A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.A1926C:p.A642A;	0.300756353567015	0.57
18	14796413	A	G	18	14796414	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon18:c.A1926G:p.A642A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.A1926G:p.A642A;	0.774164183103176	0.628
18	14796413	A	T	18	14796414	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon18:c.A1926T:p.A642A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.A1926T:p.A642A;	0.933695737185746	0.654
18	14796414	G	A	18	14796415	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.G1927A:p.E643K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.G1927A:p.E643K;	0.999545945692313	0.98
18	14796414	G	C	18	14796415	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon18:c.G1927C:p.E643Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon18:c.G1927C:p.E643Q;	0.999989103242641	0.948
18	14796414	G	T	18	14796415	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon18:c.G1927T:p.E643X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon18:c.G1927T:p.E643X;	0.999891750062396	0.962
18	14796415	G	A	18	14796416	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1927+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1927+1G>A;ENST00000580206:exon17:c.1898+1G>A)	.	.	0.99996947969426	0.77
18	14796415	G	C	18	14796416	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1927+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1927+1G>C;ENST00000580206:exon17:c.1898+1G>C)	.	.	0.99996947969426	0.756
18	14796415	G	T	18	14796416	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1927+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1927+1G>T;ENST00000580206:exon17:c.1898+1G>T)	.	.	0.99996947969426	0.75
18	14796416	T	A	18	14796417	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1927+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1927+2T>A;ENST00000580206:exon17:c.1898+2T>A)	.	.	0.999968624618023	0.762
18	14796416	T	C	18	14796417	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1927+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1927+2T>C;ENST00000580206:exon17:c.1898+2T>C)	.	.	0.964342044422216	0.526
18	14796416	T	G	18	14796417	y	y	splicing	ANKRD30B(NM_001145029:exon18:c.1927+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon18:c.1927+2T>G;ENST00000580206:exon17:c.1898+2T>G)	.	.	0.999968624618023	0.752
18	14796417	A	C	18	14796418	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998228029341314	0.742
18	14796417	A	G	18	14796418	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.082240652383402	0.452
18	14796417	A	T	18	14796418	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998601027939898	0.696
18	14796418	A	C	18	14796419	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.277774698531141	0.328
18	14796418	A	G	18	14796419	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.397133568312024	0.47
18	14796418	A	T	18	14796419	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.406660924077906	0.484
18	14796419	A	C	18	14796420	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.82228781369363E-4	0.03
18	14796419	A	G	18	14796420	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.49319530154437E-4	0.08
18	14796419	A	T	18	14796420	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.82504243292099E-4	0.008
18	14796420	T	A	18	14796421	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00367009807865338	0.166
18	14796420	T	C	18	14796421	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0154241043648037	0.236
18	14796420	T	G	18	14796421	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.12737003633499E-4	0.19
18	14796421	T	A	18	14796422	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.0601328162285E-4	0.0
18	14796421	T	C	18	14796422	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.46641322099939E-5	0.0
18	14796421	T	G	18	14796422	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.51954839011026E-5	0.0
18	14796422	T	A	18	14796423	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.65636539525587E-6	0.0
18	14796422	T	C	18	14796423	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.65636539525587E-6	0.0
18	14796422	T	G	18	14796423	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.55218029485058E-5	0.0
18	14797648	C	A	18	14797649	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.49918466545914E-4	0.032
18	14797648	C	G	18	14797649	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.24376143189961E-4	0.046
18	14797648	C	T	18	14797649	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.12388451737589E-5	0.0
18	14797649	T	A	18	14797650	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00139173814281149	0.242
18	14797649	T	C	18	14797650	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.38145921700319E-4	0.142
18	14797649	T	G	18	14797650	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00690882617706081	0.236
18	14797650	T	A	18	14797651	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.13908072628809E-4	0.07
18	14797650	T	C	18	14797651	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.41632164970787E-5	0.024
18	14797650	T	G	18	14797651	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.87195630071859E-4	0.086
18	14797651	T	A	18	14797652	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52717265694994E-4	0.078
18	14797651	T	C	18	14797652	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.00418892209684E-5	0.0
18	14797651	T	G	18	14797652	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.98131797455232E-4	0.068
18	14797652	T	A	18	14797653	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.55069235666592E-4	0.018
18	14797652	T	C	18	14797653	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1675478939271E-5	0.0
18	14797652	T	G	18	14797653	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.35548574042289E-4	0.024
18	14797653	C	A	18	14797654	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.00586036410571E-4	0.024
18	14797653	C	G	18	14797654	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.53335005240755E-5	0.042
18	14797653	C	T	18	14797654	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.41997635411732E-5	0.002
18	14797654	T	A	18	14797655	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.14290839669915E-4	0.096
18	14797654	T	C	18	14797655	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.64568260325849E-5	0.006
18	14797654	T	G	18	14797655	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00427383043865429	0.122
18	14797655	T	A	18	14797656	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0132649736972739	0.318
18	14797655	T	C	18	14797656	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.88617940666065E-4	0.044
18	14797655	T	G	18	14797656	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0757717254544823	0.362
18	14797656	T	A	18	14797657	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.06269481112026E-5	0.034
18	14797656	T	C	18	14797657	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.89025045376121E-5	0.0
18	14797656	T	G	18	14797657	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.38766175503268E-5	0.012
18	14797657	T	A	18	14797658	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0195462871232993	0.336
18	14797657	T	C	18	14797658	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.01435577710603E-5	0.03
18	14797657	T	G	18	14797658	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.995246780420787	0.726
18	14797658	A	C	18	14797659	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1928-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1928-2A>C;ENST00000580206:exon18:c.1899-2A>C)	.	.	0.99996947969426	0.75
18	14797658	A	G	18	14797659	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1928-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1928-2A>G;ENST00000580206:exon18:c.1899-2A>G)	.	.	0.99996947969426	0.75
18	14797658	A	T	18	14797659	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1928-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1928-2A>T;ENST00000580206:exon18:c.1899-2A>T)	.	.	0.99996947969426	0.75
18	14797659	G	A	18	14797660	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1928-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1928-1G>A;ENST00000580206:exon18:c.1899-1G>A)	.	.	0.99996947969426	0.746
18	14797659	G	C	18	14797660	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1928-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1928-1G>C;ENST00000580206:exon18:c.1899-1G>C)	.	.	0.99996947969426	0.726
18	14797659	G	T	18	14797660	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1928-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1928-1G>T;ENST00000580206:exon18:c.1899-1G>T)	.	.	0.99996947969426	0.738
18	14797660	A	C	18	14797661	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.A1928C:p.E643A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.A1928C:p.E643A;	2.88746249252149E-4	0.104
18	14797660	A	G	18	14797661	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.A1928G:p.E643G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.A1928G:p.E643G;	3.46809045773804E-4	0.004
18	14797660	A	T	18	14797661	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.A1928T:p.E643V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.A1928T:p.E643V;	0.00102283694540095	0.028
18	14797661	G	A	18	14797662	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon19:c.G1929A:p.E643E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.G1929A:p.E643E;	4.18186371461091E-5	0.0
18	14797661	G	C	18	14797662	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.G1929C:p.E643D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.G1929C:p.E643D;	2.19504001404366E-5	0.0
18	14797661	G	T	18	14797662	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.G1929T:p.E643D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.G1929T:p.E643D;	8.11972013167635E-6	0.0
18	14797686	A	C	18	14797687	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.A1954C:p.K652Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.A1954C:p.K652Q;	7.88765226211698E-6	0.0
18	14797686	A	G	18	14797687	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.A1954G:p.K652E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.A1954G:p.K652E;	1.12977297761175E-4	0.002
18	14797686	A	T	18	14797687	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon19:c.A1954T:p.K652X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon19:c.A1954T:p.K652X;	0.101575048960107	0.358
18	14797687	A	C	18	14797688	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.A1955C:p.K652T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.A1955C:p.K652T;	0.409202111691497	0.628
18	14797687	A	G	18	14797688	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.A1955G:p.K652R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.A1955G:p.K652R;	0.893490106020554	0.64
18	14797687	A	T	18	14797688	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.A1955T:p.K652M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.A1955T:p.K652M;	0.978398220826471	0.672
18	14797688	G	A	18	14797689	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon19:c.G1956A:p.K652K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.G1956A:p.K652K;	0.999986303326987	0.962
18	14797688	G	C	18	14797689	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.G1956C:p.K652N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.G1956C:p.K652N;	0.999982267242811	0.986
18	14797688	G	T	18	14797689	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon19:c.G1956T:p.K652N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon19:c.G1956T:p.K652N;	0.999983309160633	0.988
18	14797689	G	A	18	14797690	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1956+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1956+1G>A;ENST00000580206:exon18:c.1927+1G>A)	.	.	0.99996947969426	0.756
18	14797689	G	C	18	14797690	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1956+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1956+1G>C;ENST00000580206:exon18:c.1927+1G>C)	.	.	0.99996947969426	0.742
18	14797689	G	T	18	14797690	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1956+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1956+1G>T;ENST00000580206:exon18:c.1927+1G>T)	.	.	0.99996947969426	0.75
18	14797690	T	A	18	14797691	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1956+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1956+2T>A;ENST00000580206:exon18:c.1927+2T>A)	.	.	0.999968768393571	0.656
18	14797690	T	C	18	14797691	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1956+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1956+2T>C;ENST00000580206:exon18:c.1927+2T>C)	.	.	0.780339740445682	0.486
18	14797690	T	G	18	14797691	y	y	splicing	ANKRD30B(NM_001145029:exon19:c.1956+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon19:c.1956+2T>G;ENST00000580206:exon18:c.1927+2T>G)	.	.	0.999968768393571	0.648
18	14797691	A	C	18	14797692	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999722139488659	0.836
18	14797691	A	G	18	14797692	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.845958021886692	0.548
18	14797691	A	T	18	14797692	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999730488825257	0.828
18	14797692	A	C	18	14797693	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.205800906615911	0.37
18	14797692	A	G	18	14797693	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.739778755914958	0.578
18	14797692	A	T	18	14797693	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.557221349543404	0.484
18	14797693	T	A	18	14797694	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.49861508403115E-5	0.004
18	14797693	T	C	18	14797694	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.09740216807318E-6	0.0
18	14797693	T	G	18	14797694	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.36419181703737E-5	0.014
18	14797694	A	C	18	14797695	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.35122435568002E-5	0.014
18	14797694	A	G	18	14797695	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.30885873730729E-5	0.0
18	14797694	A	T	18	14797695	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.32026830096881E-5	0.01
18	14797695	G	A	18	14797696	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.30081017321732E-6	0.0
18	14797695	G	C	18	14797696	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.91352047955803E-6	0.002
18	14797695	G	T	18	14797696	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.52188614684683E-5	0.024
18	14797696	C	A	18	14797697	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.96941806005178E-5	0.016
18	14797696	C	G	18	14797697	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.96941806005178E-5	0.016
18	14797696	C	T	18	14797697	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.96941806005178E-5	0.018
18	14797769	G	A	18	14797770	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.89217759122682E-5	0.012
18	14797769	G	C	18	14797770	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.40347652697844E-5	0.006
18	14797769	G	T	18	14797770	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.06236804923484E-5	0.006
18	14797770	A	C	18	14797771	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.40379713286201E-5	0.002
18	14797770	A	G	18	14797771	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.60125377543097E-5	0.02
18	14797770	A	T	18	14797771	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.12409613212318E-4	0.096
18	14797771	A	C	18	14797772	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.50048030850939E-5	0.02
18	14797771	A	G	18	14797772	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993494059212496	0.936
18	14797771	A	T	18	14797772	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.7318975508101E-5	0.05
18	14797772	C	A	18	14797773	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0016969186202169	0.2
18	14797772	C	G	18	14797773	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999087091428969	0.94
18	14797772	C	T	18	14797773	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.55469257297382E-5	0.006
18	14797773	C	A	18	14797774	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0601004098623536	0.278
18	14797773	C	G	18	14797774	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00507095515190535	0.25
18	14797773	C	T	18	14797774	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52098430082957E-5	0.024
18	14797774	C	A	18	14797775	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.16507136100773E-4	0.288
18	14797774	C	G	18	14797775	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00124506863674579	0.254
18	14797774	C	T	18	14797775	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.12736420948991E-5	0.006
18	14797775	A	C	18	14797776	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.50874458144223E-5	0.052
18	14797775	A	G	18	14797776	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.96520400366106E-6	0.002
18	14797775	A	T	18	14797776	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.07084114251852E-5	0.028
18	14797776	T	A	18	14797777	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.848344387009965	0.686
18	14797776	T	C	18	14797777	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0153244781676754	0.218
18	14797776	T	G	18	14797777	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999379931209709	0.926
18	14797777	T	A	18	14797778	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.7401054566981E-5	0.01
18	14797777	T	C	18	14797778	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.42801252702177E-5	0.01
18	14797777	T	G	18	14797778	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.62610790672244E-5	0.03
18	14797778	T	A	18	14797779	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0521979244124909	0.32
18	14797778	T	C	18	14797779	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.69224588517963E-5	0.04
18	14797778	T	G	18	14797779	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.490970128869475	0.532
18	14797779	A	C	18	14797780	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.1957-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.1957-2A>C;ENST00000580206:exon19:c.1928-2A>C)	.	.	0.999635333373676	0.75
18	14797779	A	G	18	14797780	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.1957-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.1957-2A>G;ENST00000580206:exon19:c.1928-2A>G)	.	.	0.999635333373676	0.75
18	14797779	A	T	18	14797780	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.1957-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.1957-2A>T;ENST00000580206:exon19:c.1928-2A>T)	.	.	0.999635333373676	0.75
18	14797780	G	A	18	14797781	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.1957-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.1957-1G>A;ENST00000580206:exon19:c.1928-1G>A)	.	.	0.999619755915597	0.762
18	14797780	G	C	18	14797781	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.1957-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.1957-1G>C;ENST00000580206:exon19:c.1928-1G>C)	.	.	0.999619755915597	0.746
18	14797780	G	T	18	14797781	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.1957-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.1957-1G>T;ENST00000580206:exon19:c.1928-1G>T)	.	.	0.999619755915597	0.754
18	14797781	C	A	18	14797782	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C1957A:p.P653T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C1957A:p.P653T;	5.75592472836926E-5	0.018
18	14797781	C	G	18	14797782	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C1957G:p.P653A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C1957G:p.P653A;	1.44670373483882E-4	0.182
18	14797781	C	T	18	14797782	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C1957T:p.P653S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C1957T:p.P653S;	1.65771841930521E-4	0.08
18	14797782	C	A	18	14797783	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C1958A:p.P653H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C1958A:p.P653H;	1.461486580293E-4	0.018
18	14797782	C	G	18	14797783	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C1958G:p.P653R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C1958G:p.P653R;	1.06510303213465E-4	0.04
18	14797782	C	T	18	14797783	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C1958T:p.P653L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C1958T:p.P653L;	1.408090619187E-4	0.0
18	14797851	C	A	18	14797852	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C2027A:p.A676E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C2027A:p.A676E;	2.83574943431484E-4	0.012
18	14797851	C	G	18	14797852	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C2027G:p.A676G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C2027G:p.A676G;	2.36796770275951E-4	0.034
18	14797851	C	T	18	14797852	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.C2027T:p.A676V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.C2027T:p.A676V;	0.721147773708727	0.592
18	14797852	A	C	18	14797853	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon20:c.A2028C:p.A676A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.A2028C:p.A676A;	0.608821081232844	0.65
18	14797852	A	G	18	14797853	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon20:c.A2028G:p.A676A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.A2028G:p.A676A;	0.979148584436958	0.778
18	14797852	A	T	18	14797853	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon20:c.A2028T:p.A676A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.A2028T:p.A676A;	0.98257888320706	0.734
18	14797853	G	A	18	14797854	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.G2029A:p.E677K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.G2029A:p.E677K;	0.999925428384328	0.966
18	14797853	G	C	18	14797854	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon20:c.G2029C:p.E677Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon20:c.G2029C:p.E677Q;	0.999987682352949	0.918
18	14797853	G	T	18	14797854	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon20:c.G2029T:p.E677X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon20:c.G2029T:p.E677X;	0.999985953493516	0.962
18	14797854	G	A	18	14797855	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.2029+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.2029+1G>A;ENST00000580206:exon19:c.2000+1G>A)	.	.	0.99996947969426	0.726
18	14797854	G	C	18	14797855	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.2029+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.2029+1G>C;ENST00000580206:exon19:c.2000+1G>C)	.	.	0.99996947969426	0.714
18	14797854	G	T	18	14797855	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.2029+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.2029+1G>T;ENST00000580206:exon19:c.2000+1G>T)	.	.	0.99996947969426	0.726
18	14797855	T	A	18	14797856	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.2029+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.2029+2T>A;ENST00000580206:exon19:c.2000+2T>A)	.	.	0.999968624618023	0.726
18	14797855	T	C	18	14797856	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.2029+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.2029+2T>C;ENST00000580206:exon19:c.2000+2T>C)	.	.	0.920635501422871	0.546
18	14797855	T	G	18	14797856	y	y	splicing	ANKRD30B(NM_001145029:exon20:c.2029+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon20:c.2029+2T>G;ENST00000580206:exon19:c.2000+2T>G)	.	.	0.999968624618023	0.708
18	14797856	A	C	18	14797857	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999724724420263	0.742
18	14797856	A	G	18	14797857	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.859635141867319	0.634
18	14797856	A	T	18	14797857	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997001700720477	0.646
18	14797857	C	A	18	14797858	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02225463888646E-5	0.014
18	14797857	C	G	18	14797858	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.47712063991974E-5	0.01
18	14797857	C	T	18	14797858	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.08839509845966E-4	0.008
18	14797858	A	C	18	14797859	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.15410741819716E-4	0.016
18	14797858	A	G	18	14797859	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.69715164260901E-4	0.16
18	14797858	A	T	18	14797859	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.19955742693462E-5	0.004
18	14797859	T	A	18	14797860	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.27231720297533E-4	0.084
18	14797859	T	C	18	14797860	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.8519931327765E-4	0.134
18	14797859	T	G	18	14797860	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.9517073354052E-4	0.096
18	14797860	T	A	18	14797861	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.47805588236561E-5	0.0
18	14797860	T	C	18	14797861	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.20046440951938E-5	0.0
18	14797860	T	G	18	14797861	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.26233711874658E-5	0.012
18	14797861	T	A	18	14797862	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.00487467324354E-5	0.0
18	14797861	T	C	18	14797862	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.00487467324354E-5	0.0
18	14797861	T	G	18	14797862	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.4213722769126E-5	0.0
18	14799088	C	A	18	14799089	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.3768786161011E-4	0.074
18	14799088	C	G	18	14799089	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.16857767173944E-5	0.062
18	14799088	C	T	18	14799089	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.07450707899337E-5	0.006
18	14799089	T	A	18	14799090	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00689825200717679	0.196
18	14799089	T	C	18	14799090	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.93633077013568E-4	0.06
18	14799089	T	G	18	14799090	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0143159356722678	0.196
18	14799090	T	A	18	14799091	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0144472066304386	0.124
18	14799090	T	C	18	14799091	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.4865409539152E-4	0.018
18	14799090	T	G	18	14799091	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00488578183869559	0.102
18	14799091	T	A	18	14799092	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00187000610239096	0.124
18	14799091	T	C	18	14799092	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.41278761766771E-4	0.01
18	14799091	T	G	18	14799092	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00154159150868866	0.106
18	14799092	T	A	18	14799093	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00281512885290461	0.064
18	14799092	T	C	18	14799093	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.61996666214361E-4	0.01
18	14799092	T	G	18	14799093	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0012922441911883	0.066
18	14799093	C	A	18	14799094	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.97257110443191E-5	0.088
18	14799093	C	G	18	14799094	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.80804354717602E-6	0.064
18	14799093	C	T	18	14799094	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.79991308390461E-5	0.002
18	14799094	T	A	18	14799095	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00512272204872656	0.098
18	14799094	T	C	18	14799095	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.29939888324526E-4	0.024
18	14799094	T	G	18	14799095	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0193579502472083	0.162
18	14799095	T	A	18	14799096	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0277867502439215	0.278
18	14799095	T	C	18	14799096	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00166358650283009	0.056
18	14799095	T	G	18	14799096	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.133632411219104	0.36
18	14799096	T	A	18	14799097	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.08386364775118E-4	0.092
18	14799096	T	C	18	14799097	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.2478510657763E-4	0.014
18	14799096	T	G	18	14799097	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00213130845139938	0.032
18	14799097	T	A	18	14799098	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0240077626718157	0.234
18	14799097	T	C	18	14799098	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0023599591726721	0.08
18	14799097	T	G	18	14799098	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99880714493825	0.748
18	14799098	A	C	18	14799099	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2030-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2030-2A>C;ENST00000580206:exon20:c.2001-2A>C)	.	.	0.99996947969426	0.766
18	14799098	A	G	18	14799099	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2030-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2030-2A>G;ENST00000580206:exon20:c.2001-2A>G)	.	.	0.99996947969426	0.764
18	14799098	A	T	18	14799099	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2030-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2030-2A>T;ENST00000580206:exon20:c.2001-2A>T)	.	.	0.99996947969426	0.774
18	14799099	G	A	18	14799100	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2030-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2030-1G>A;ENST00000580206:exon20:c.2001-1G>A)	.	.	0.99996947969426	0.758
18	14799099	G	C	18	14799100	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2030-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2030-1G>C;ENST00000580206:exon20:c.2001-1G>C)	.	.	0.99996947969426	0.75
18	14799099	G	T	18	14799100	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2030-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2030-1G>T;ENST00000580206:exon20:c.2001-1G>T)	.	.	0.99996947969426	0.756
18	14799100	A	C	18	14799101	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.A2030C:p.E677A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.A2030C:p.E677A;	1.20566503231698E-4	0.008
18	14799100	A	G	18	14799101	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.A2030G:p.E677G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.A2030G:p.E677G;	2.0291873933743E-5	0.0
18	14799100	A	T	18	14799101	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.A2030T:p.E677V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.A2030T:p.E677V;	1.89175936943127E-4	0.004
18	14799101	G	A	18	14799102	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon21:c.G2031A:p.E677E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.G2031A:p.E677E;	3.41059172674362E-5	0.0
18	14799101	G	C	18	14799102	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.G2031C:p.E677D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.G2031C:p.E677D;	1.73286190996481E-5	0.002
18	14799101	G	T	18	14799102	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.G2031T:p.E677D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.G2031T:p.E677D;	7.24155170016694E-6	0.0
18	14799126	A	C	18	14799127	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.A2056C:p.K686Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.A2056C:p.K686Q;	6.93809309342709E-6	0.004
18	14799126	A	G	18	14799127	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.A2056G:p.K686E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.A2056G:p.K686E;	3.70335212149948E-5	0.004
18	14799126	A	T	18	14799127	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon21:c.A2056T:p.K686X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon21:c.A2056T:p.K686X;	0.0893955783217834	0.338
18	14799127	A	C	18	14799128	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.A2057C:p.K686T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.A2057C:p.K686T;	0.668149074018903	0.648
18	14799127	A	G	18	14799128	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.A2057G:p.K686R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.A2057G:p.K686R;	0.935250355853526	0.68
18	14799127	A	T	18	14799128	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.A2057T:p.K686M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.A2057T:p.K686M;	0.984035515302721	0.702
18	14799128	G	A	18	14799129	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon21:c.G2058A:p.K686K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.G2058A:p.K686K;	0.999987028274394	0.938
18	14799128	G	C	18	14799129	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.G2058C:p.K686N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.G2058C:p.K686N;	0.999988611358013	0.978
18	14799128	G	T	18	14799129	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon21:c.G2058T:p.K686N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon21:c.G2058T:p.K686N;	0.999983309160633	0.964
18	14799129	G	A	18	14799130	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2058+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2058+1G>A;ENST00000580206:exon20:c.2029+1G>A)	.	.	0.99996947969426	0.744
18	14799129	G	C	18	14799130	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2058+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2058+1G>C;ENST00000580206:exon20:c.2029+1G>C)	.	.	0.99996947969426	0.724
18	14799129	G	T	18	14799130	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2058+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2058+1G>T;ENST00000580206:exon20:c.2029+1G>T)	.	.	0.99996947969426	0.736
18	14799130	T	A	18	14799131	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2058+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2058+2T>A;ENST00000580206:exon20:c.2029+2T>A)	.	.	0.99996947969426	0.75
18	14799130	T	C	18	14799131	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2058+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2058+2T>C;ENST00000580206:exon20:c.2029+2T>C)	.	.	0.921985136219439	0.532
18	14799130	T	G	18	14799131	y	y	splicing	ANKRD30B(NM_001145029:exon21:c.2058+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon21:c.2058+2T>G;ENST00000580206:exon20:c.2029+2T>G)	.	.	0.99996947969426	0.75
18	14799131	A	C	18	14799132	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999722139488659	0.83
18	14799131	A	G	18	14799132	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.884847417250559	0.562
18	14799131	A	T	18	14799132	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999730488825257	0.834
18	14799132	A	C	18	14799133	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.382796528700636	0.466
18	14799132	A	G	18	14799133	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.87900058866773	0.594
18	14799132	A	T	18	14799133	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.512273665641283	0.492
18	14799133	T	A	18	14799134	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.49861508403115E-5	0.006
18	14799133	T	C	18	14799134	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.09740216807318E-6	0.0
18	14799133	T	G	18	14799134	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.36419181703737E-5	0.008
18	14799134	A	C	18	14799135	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.20626637182557E-4	0.072
18	14799134	A	G	18	14799135	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.19929892252566E-4	0.012
18	14799134	A	T	18	14799135	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.4678984458052E-4	0.022
18	14799135	A	C	18	14799136	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.01873898245256E-5	0.002
18	14799135	A	G	18	14799136	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.5878967009854E-6	0.036
18	14799135	A	T	18	14799136	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.21151071975547E-5	0.034
18	14799136	C	A	18	14799137	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.17936504837066E-5	0.014
18	14799136	C	G	18	14799137	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.27147015666237E-5	0.014
18	14799136	C	T	18	14799137	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.92560323737268E-5	0.018
18	14799210	A	C	18	14799211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.42494308203481E-5	0.002
18	14799210	A	G	18	14799211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.31718817706683E-5	0.05
18	14799210	A	T	18	14799211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60176075088273E-5	0.076
18	14799211	A	C	18	14799212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.56146700231224E-5	0.0
18	14799211	A	G	18	14799212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997403023039986	0.958
18	14799211	A	T	18	14799212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.97377364717621E-5	0.116
18	14799212	A	C	18	14799213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.95186324823886E-5	0.008
18	14799212	A	G	18	14799213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993494059212496	0.924
18	14799212	A	T	18	14799213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.7318975508101E-5	0.052
18	14799213	C	A	18	14799214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.48040124717171E-4	0.138
18	14799213	C	G	18	14799214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997308901308236	0.792
18	14799213	C	T	18	14799214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.8230282746436E-5	0.006
18	14799214	C	A	18	14799215	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00991686804576209	0.306
18	14799214	C	G	18	14799215	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00849609231831704	0.282
18	14799214	C	T	18	14799215	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.70202790230278E-5	0.036
18	14799215	C	A	18	14799216	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.32341457095827E-4	0.174
18	14799215	C	G	18	14799216	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.44610210006505E-4	0.126
18	14799215	C	T	18	14799216	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.55497796057718E-5	0.002
18	14799216	A	C	18	14799217	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60176075088273E-5	0.048
18	14799216	A	G	18	14799217	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.52211692619526E-6	0.036
18	14799216	A	T	18	14799217	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.45576997942812E-5	0.042
18	14799217	T	A	18	14799218	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.687658412655217	0.59
18	14799217	T	C	18	14799218	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.54259279687893E-4	0.15
18	14799217	T	G	18	14799218	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998093093027516	0.862
18	14799218	T	A	18	14799219	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.04469102740781E-6	0.004
18	14799218	T	C	18	14799219	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.17961834011319E-5	0.004
18	14799218	T	G	18	14799219	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.47214405547609E-5	0.01
18	14799219	T	A	18	14799220	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0255276205562797	0.29
18	14799219	T	C	18	14799220	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.23858660641555E-5	0.034
18	14799219	T	G	18	14799220	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.466910363404218	0.486
18	14799220	A	C	18	14799221	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2059-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2059-2A>C;ENST00000580206:exon21:c.2030-2A>C)	.	.	0.999619755915597	0.73
18	14799220	A	G	18	14799221	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2059-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2059-2A>G;ENST00000580206:exon21:c.2030-2A>G)	.	.	0.999619755915597	0.73
18	14799220	A	T	18	14799221	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2059-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2059-2A>T;ENST00000580206:exon21:c.2030-2A>T)	.	.	0.999619755915597	0.75
18	14799221	G	A	18	14799222	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2059-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2059-1G>A;ENST00000580206:exon21:c.2030-1G>A)	.	.	0.999619755915597	0.726
18	14799221	G	C	18	14799222	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2059-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2059-1G>C;ENST00000580206:exon21:c.2030-1G>C)	.	.	0.999619755915597	0.72
18	14799221	G	T	18	14799222	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2059-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2059-1G>T;ENST00000580206:exon21:c.2030-1G>T)	.	.	0.999619755915597	0.724
18	14799222	C	A	18	14799223	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2059A:p.P687T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2059A:p.P687T;	1.80655863125619E-4	0.01
18	14799222	C	G	18	14799223	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2059G:p.P687A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2059G:p.P687A;	2.12955751156623E-4	0.162
18	14799222	C	T	18	14799223	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2059T:p.P687S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2059T:p.P687S;	0.00201747198031091	0.132
18	14799223	C	A	18	14799224	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2060A:p.P687H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2060A:p.P687H;	2.04903891035654E-4	0.018
18	14799223	C	G	18	14799224	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2060G:p.P687R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2060G:p.P687R;	4.93912009449813E-4	0.026
18	14799223	C	T	18	14799224	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2060T:p.P687L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2060T:p.P687L;	0.0011430325510419	0.056
18	14799292	C	A	18	14799293	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2129A:p.A710E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2129A:p.A710E;	9.61906801888982E-4	0.036
18	14799292	C	G	18	14799293	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2129G:p.A710G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2129G:p.A710G;	8.43279355034117E-4	0.014
18	14799292	C	T	18	14799293	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.C2129T:p.A710V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.C2129T:p.A710V;	0.619293656641199	0.508
18	14799293	A	C	18	14799294	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon22:c.A2130C:p.A710A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.A2130C:p.A710A;	0.372577467358067	0.534
18	14799293	A	G	18	14799294	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon22:c.A2130G:p.A710A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.A2130G:p.A710A;	0.825562613761979	0.574
18	14799293	A	T	18	14799294	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon22:c.A2130T:p.A710A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.A2130T:p.A710A;	0.938594343459438	0.622
18	14799294	G	A	18	14799295	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.G2131A:p.A711T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.G2131A:p.A711T;	0.99914856449584	0.952
18	14799294	G	C	18	14799295	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.G2131C:p.A711P;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.G2131C:p.A711P;	0.999990447172183	0.954
18	14799294	G	T	18	14799295	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon22:c.G2131T:p.A711S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon22:c.G2131T:p.A711S;	0.998832958106299	0.852
18	14799295	G	A	18	14799296	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2131+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2131+1G>A;ENST00000580206:exon21:c.2102+1G>A)	.	.	0.999962956133083	0.77
18	14799295	G	C	18	14799296	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2131+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2131+1G>C;ENST00000580206:exon21:c.2102+1G>C)	.	.	0.99996947969426	0.774
18	14799295	G	T	18	14799296	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2131+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2131+1G>T;ENST00000580206:exon21:c.2102+1G>T)	.	.	0.99996947969426	0.774
18	14799296	T	A	18	14799297	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2131+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2131+2T>A;ENST00000580206:exon21:c.2102+2T>A)	.	.	0.999945590422375	0.774
18	14799296	T	C	18	14799297	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2131+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2131+2T>C;ENST00000580206:exon21:c.2102+2T>C)	.	.	0.927757577623556	0.51
18	14799296	T	G	18	14799297	y	y	splicing	ANKRD30B(NM_001145029:exon22:c.2131+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon22:c.2131+2T>G;ENST00000580206:exon21:c.2102+2T>G)	.	.	0.999962956133083	0.774
18	14799297	A	C	18	14799298	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998466758725246	0.752
18	14799297	A	G	18	14799298	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.073629756296258	0.448
18	14799297	A	T	18	14799298	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999056063994249	0.684
18	14799298	A	C	18	14799299	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.365974882855665	0.318
18	14799298	A	G	18	14799299	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.414225656795927	0.472
18	14799298	A	T	18	14799299	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.387025912669445	0.428
18	14799299	A	C	18	14799300	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.85590552419542E-5	0.052
18	14799299	A	G	18	14799300	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.83255008817952E-4	0.108
18	14799299	A	T	18	14799300	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.84343472440808E-4	0.032
18	14799300	T	A	18	14799301	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00472313204159939	0.14
18	14799300	T	C	18	14799301	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0262788591743493	0.192
18	14799300	T	G	18	14799301	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.94937963199247E-4	0.174
18	14799301	T	A	18	14799302	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.9531850179266E-5	0.042
18	14799301	T	C	18	14799302	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.9531850179266E-5	0.068
18	14799301	T	G	18	14799302	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.47916167743743E-5	0.088
18	14799302	T	A	18	14799303	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.34042215059971E-6	0.0
18	14799302	T	C	18	14799303	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.65636539525587E-6	0.0
18	14799302	T	G	18	14799303	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.55218029485058E-5	0.0
18	14802204	A	C	18	14802205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.30403505445671E-5	0.006
18	14802204	A	G	18	14802205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.72085045636836E-5	0.048
18	14802204	A	T	18	14802205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.62357076681339E-5	0.016
18	14802205	A	C	18	14802206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.23598492144892E-5	0.0
18	14802205	A	G	18	14802206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.992054851708129	0.94
18	14802205	A	T	18	14802206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.16309400913226E-5	0.124
18	14802206	C	A	18	14802207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.27617614612455E-4	0.056
18	14802206	C	G	18	14802207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999624667627047	0.888
18	14802206	C	T	18	14802207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.01549410500256E-5	0.002
18	14802207	C	A	18	14802208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.10899675755787E-5	0.006
18	14802207	C	G	18	14802208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.51299242386606E-4	0.026
18	14802207	C	T	18	14802208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.55908716824608E-5	0.002
18	14802208	T	A	18	14802209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0022543853182957	0.102
18	14802208	T	C	18	14802209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.02940386455716E-5	0.01
18	14802208	T	G	18	14802209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.09101917865456E-4	0.084
18	14802209	T	A	18	14802210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.11241755673423E-4	0.042
18	14802209	T	C	18	14802210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.34607564305855E-5	0.0
18	14802209	T	G	18	14802210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.19606136976121E-4	0.06
18	14802210	T	A	18	14802211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.257921330164892	0.508
18	14802210	T	C	18	14802211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.49969073886318E-5	0.058
18	14802210	T	G	18	14802211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.176676310324258	0.484
18	14802211	T	A	18	14802212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.704621197734401	0.512
18	14802211	T	C	18	14802212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.44523850329113E-4	0.078
18	14802211	T	G	18	14802212	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.789435884872266	0.56
18	14802212	A	C	18	14802213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34982785071777E-5	0.012
18	14802212	A	G	18	14802213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.26847229832186E-5	0.012
18	14802212	A	T	18	14802213	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.2581484256507E-5	0.004
18	14802213	T	A	18	14802214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.02880560051693E-4	0.178
18	14802213	T	C	18	14802214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.08239224885319E-5	0.0
18	14802213	T	G	18	14802214	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.899389868424071	0.696
18	14802214	A	C	18	14802215	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2132-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2132-2A>C;ENST00000580206:exon22:c.2103-2A>C)	.	.	0.999952513967755	0.734
18	14802214	A	G	18	14802215	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2132-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2132-2A>G;ENST00000580206:exon22:c.2103-2A>G)	.	.	0.999952513967755	0.734
18	14802214	A	T	18	14802215	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2132-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2132-2A>T;ENST00000580206:exon22:c.2103-2A>T)	.	.	0.999952513967755	0.748
18	14802215	G	A	18	14802216	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2132-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2132-1G>A;ENST00000580206:exon22:c.2103-1G>A)	.	.	0.999927182694724	0.734
18	14802215	G	C	18	14802216	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2132-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2132-1G>C;ENST00000580206:exon22:c.2103-1G>C)	.	.	0.999927182694724	0.722
18	14802215	G	T	18	14802216	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2132-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2132-1G>T;ENST00000580206:exon22:c.2103-1G>T)	.	.	0.999927182694724	0.724
18	14802216	C	A	18	14802217	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.C2132A:p.A711D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.C2132A:p.A711D;	3.67981952440664E-5	0.034
18	14802216	C	G	18	14802217	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.C2132G:p.A711G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.C2132G:p.A711G;	2.97477512425544E-5	0.064
18	14802216	C	T	18	14802217	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.C2132T:p.A711V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.C2132T:p.A711V;	4.96954004361142E-5	0.044
18	14802217	T	A	18	14802218	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon23:c.T2133A:p.A711A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.T2133A:p.A711A;	7.00866710713302E-5	0.012
18	14802217	T	C	18	14802218	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon23:c.T2133C:p.A711A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.T2133C:p.A711A;	8.25443204049354E-5	0.008
18	14802217	T	G	18	14802218	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon23:c.T2133G:p.A711A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.T2133G:p.A711A;	5.02557290075246E-5	0.016
18	14802275	G	A	18	14802276	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.G2191A:p.E731K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.G2191A:p.E731K;	0.00292073801470484	0.058
18	14802275	G	C	18	14802276	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.G2191C:p.E731Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.G2191C:p.E731Q;	2.47859450298786E-4	0.004
18	14802275	G	T	18	14802276	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon23:c.G2191T:p.E731X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon23:c.G2191T:p.E731X;	0.690611348851759	0.512
18	14802276	A	C	18	14802277	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.A2192C:p.E731A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.A2192C:p.E731A;	0.997126454678392	0.938
18	14802276	A	G	18	14802277	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.A2192G:p.E731G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.A2192G:p.E731G;	0.999566291307806	0.978
18	14802276	A	T	18	14802277	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.A2192T:p.E731V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.A2192T:p.E731V;	0.99971611175298	0.964
18	14802277	G	A	18	14802278	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon23:c.G2193A:p.E731E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.G2193A:p.E731E;	0.999984388320336	0.964
18	14802277	G	C	18	14802278	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.G2193C:p.E731D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.G2193C:p.E731D;	0.999989573798779	0.988
18	14802277	G	T	18	14802278	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon23:c.G2193T:p.E731D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon23:c.G2193T:p.E731D;	0.999988919095042	0.988
18	14802278	G	A	18	14802279	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2193+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2193+1G>A;ENST00000580206:exon22:c.2164+1G>A)	.	.	0.99992015552466	0.778
18	14802278	G	C	18	14802279	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2193+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2193+1G>C;ENST00000580206:exon22:c.2164+1G>C)	.	.	0.999927182694724	0.782
18	14802278	G	T	18	14802279	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2193+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2193+1G>T;ENST00000580206:exon22:c.2164+1G>T)	.	.	0.99992015552466	0.778
18	14802279	T	A	18	14802280	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2193+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2193+2T>A;ENST00000580206:exon22:c.2164+2T>A)	.	.	0.99991534617417	0.776
18	14802279	T	C	18	14802280	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2193+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2193+2T>C;ENST00000580206:exon22:c.2164+2T>C)	.	.	0.926154306977106	0.458
18	14802279	T	G	18	14802280	y	y	splicing	ANKRD30B(NM_001145029:exon23:c.2193+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon23:c.2193+2T>G;ENST00000580206:exon22:c.2164+2T>G)	.	.	0.999942364277254	0.778
18	14802280	A	C	18	14802281	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99988476446358	0.776
18	14802280	A	G	18	14802281	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.983659622036719	0.718
18	14802280	A	T	18	14802281	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99988476446358	0.808
18	14802281	C	A	18	14802282	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.05313203007E-5	0.146
18	14802281	C	G	18	14802282	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00513293078183109	0.162
18	14802281	C	T	18	14802282	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00157326793511612	0.07
18	14802282	T	A	18	14802283	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.33778309270956E-4	0.018
18	14802282	T	C	18	14802283	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.50753362964167E-4	0.016
18	14802282	T	G	18	14802283	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.01623378560037E-4	0.198
18	14802283	G	A	18	14802284	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.6122332541364E-4	0.052
18	14802283	G	C	18	14802284	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.92038786667694E-4	0.026
18	14802283	G	T	18	14802284	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.76417479011156E-5	0.026
18	14802284	T	A	18	14802285	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.08868598919124E-5	0.002
18	14802284	T	C	18	14802285	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.17246496461593E-5	0.0
18	14802284	T	G	18	14802285	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.17246496461593E-5	0.0
18	14802285	G	A	18	14802286	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.18648209867433E-5	0.002
18	14802285	G	C	18	14802286	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.75117922633786E-5	0.012
18	14802285	G	T	18	14802286	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.75117922633786E-5	0.012
18	14803721	T	A	18	14803722	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0745007219955842	0.338
18	14803721	T	C	18	14803722	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.50765471296952E-5	0.046
18	14803721	T	G	18	14803722	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00462709503930369	0.172
18	14803722	A	C	18	14803723	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.44567246961622E-5	0.0
18	14803722	A	G	18	14803723	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.4270753193825E-5	0.002
18	14803722	A	T	18	14803723	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.44362172635607E-5	0.044
18	14803723	C	A	18	14803724	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.63640003542156E-4	0.086
18	14803723	C	G	18	14803724	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.980773228608795	0.412
18	14803723	C	T	18	14803724	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.0522072218591E-5	0.004
18	14803724	T	A	18	14803725	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.27866917952205	0.496
18	14803724	T	C	18	14803725	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.95912334179202E-5	0.06
18	14803724	T	G	18	14803725	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.102732527350227	0.428
18	14803725	T	A	18	14803726	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0335511321297597	0.374
18	14803725	T	C	18	14803726	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.63760411571023E-5	0.07
18	14803725	T	G	18	14803726	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00813087103043566	0.368
18	14803726	T	A	18	14803727	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.130060503822486	0.546
18	14803726	T	C	18	14803727	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.21502334405512E-5	0.044
18	14803726	T	G	18	14803727	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.120293482032938	0.578
18	14803727	T	A	18	14803728	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0378595111291407	0.42
18	14803727	T	C	18	14803728	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.27229523690878E-5	0.042
18	14803727	T	G	18	14803728	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.579357506424733	0.6
18	14803728	A	C	18	14803729	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67944982512943E-5	0.008
18	14803728	A	G	18	14803729	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.25300907951672E-4	0.024
18	14803728	A	T	18	14803729	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67944982512943E-5	0.0
18	14803729	A	C	18	14803730	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.11816290697885E-4	0.082
18	14803729	A	G	18	14803730	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999479240613146	0.984
18	14803729	A	T	18	14803730	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.41728739235226E-4	0.02
18	14803730	C	A	18	14803731	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998021550307159	0.866
18	14803730	C	G	18	14803731	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998833263537077	0.858
18	14803730	C	T	18	14803731	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.062055438355123	0.378
18	14803731	A	C	18	14803732	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2194-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2194-2A>C;ENST00000580206:exon23:c.2165-2A>C)	.	.	0.999896221065479	0.772
18	14803731	A	G	18	14803732	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2194-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2194-2A>G;ENST00000580206:exon23:c.2165-2A>G)	.	.	0.999896221065479	0.772
18	14803731	A	T	18	14803732	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2194-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2194-2A>T;ENST00000580206:exon23:c.2165-2A>T)	.	.	0.999896221065479	0.774
18	14803732	G	A	18	14803733	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2194-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2194-1G>A;ENST00000580206:exon23:c.2165-1G>A)	.	.	0.999840865301505	0.768
18	14803732	G	C	18	14803733	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2194-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2194-1G>C;ENST00000580206:exon23:c.2165-1G>C)	.	.	0.999840865301505	0.768
18	14803732	G	T	18	14803733	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2194-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2194-1G>T;ENST00000580206:exon23:c.2165-1G>T)	.	.	0.999840865301505	0.768
18	14803733	A	C	18	14803734	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2194C:p.S732R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2194C:p.S732R;	0.00269289153422041	0.142
18	14803733	A	G	18	14803734	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2194G:p.S732G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2194G:p.S732G;	4.81428917635262E-4	0.008
18	14803733	A	T	18	14803734	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2194T:p.S732C;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2194T:p.S732C;	0.00264846342288976	0.154
18	14803734	G	A	18	14803735	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.G2195A:p.S732N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.G2195A:p.S732N;	6.36011365372567E-5	0.002
18	14803734	G	C	18	14803735	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.G2195C:p.S732T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.G2195C:p.S732T;	8.51435420787373E-5	0.012
18	14803734	G	T	18	14803735	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.G2195T:p.S732I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.G2195T:p.S732I;	2.38704226918583E-5	0.012
18	14803821	A	C	18	14803822	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2282C:p.E761A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2282C:p.E761A;	3.79007466662091E-5	0.002
18	14803821	A	G	18	14803822	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2282G:p.E761G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2282G:p.E761G;	1.02005672411749E-4	0.008
18	14803821	A	T	18	14803822	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2282T:p.E761V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2282T:p.E761V;	6.64259414611079E-4	0.138
18	14803822	A	C	18	14803823	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2283C:p.E761D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2283C:p.E761D;	0.0410027638532695	0.544
18	14803822	A	G	18	14803823	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2283G:p.E761E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2283G:p.E761E;	0.0166633601448165	0.326
18	14803822	A	T	18	14803823	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.A2283T:p.E761D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.A2283T:p.E761D;	0.106567834517808	0.446
18	14803823	G	A	18	14803824	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.G2284A:p.E762K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.G2284A:p.E762K;	0.919607083760146	0.766
18	14803823	G	C	18	14803824	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon24:c.G2284C:p.E762Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon24:c.G2284C:p.E762Q;	0.956003959439697	0.54
18	14803823	G	T	18	14803824	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon24:c.G2284T:p.E762X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon24:c.G2284T:p.E762X;	0.999802554303002	0.802
18	14803824	G	A	18	14803825	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2284+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2284+1G>A;ENST00000580206:exon23:c.2255+1G>A)	.	.	0.999927182694724	0.76
18	14803824	G	C	18	14803825	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2284+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2284+1G>C;ENST00000580206:exon23:c.2255+1G>C)	.	.	0.999927182694724	0.752
18	14803824	G	T	18	14803825	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2284+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2284+1G>T;ENST00000580206:exon23:c.2255+1G>T)	.	.	0.999927182694724	0.724
18	14803825	T	A	18	14803826	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2284+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2284+2T>A;ENST00000580206:exon23:c.2255+2T>A)	.	.	0.999952513967755	0.774
18	14803825	T	C	18	14803826	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2284+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2284+2T>C;ENST00000580206:exon23:c.2255+2T>C)	.	.	0.946494863548851	0.456
18	14803825	T	G	18	14803826	y	y	splicing	ANKRD30B(NM_001145029:exon24:c.2284+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon24:c.2284+2T>G;ENST00000580206:exon23:c.2255+2T>G)	.	.	0.999952513967755	0.768
18	14803826	A	C	18	14803827	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.95878499398822	0.724
18	14803826	A	G	18	14803827	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0149446995075019	0.198
18	14803826	A	T	18	14803827	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.990319217955841	0.688
18	14803827	A	C	18	14803828	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.139904710944259	0.414
18	14803827	A	G	18	14803828	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.247567096227968	0.51
18	14803827	A	T	18	14803828	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.20744375400175	0.456
18	14803828	G	A	18	14803829	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.22508663935137	0.446
18	14803828	G	C	18	14803829	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0354775374202963	0.416
18	14803828	G	T	18	14803829	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.152269921911834	0.396
18	14803829	A	C	18	14803830	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.55223761729351E-5	0.004
18	14803829	A	G	18	14803830	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.39356106291597E-6	0.0
18	14803829	A	T	18	14803830	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.04707346859027E-5	0.01
18	14803830	A	C	18	14803831	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.02089408651947E-4	0.03
18	14803830	A	G	18	14803831	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.25996913169832E-5	0.014
18	14803830	A	T	18	14803831	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.92432761982867E-4	0.006
18	14803831	C	A	18	14803832	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.74586225159984E-5	0.0
18	14803831	C	G	18	14803832	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.74586225159984E-5	0.0
18	14803831	C	T	18	14803832	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.74586225159984E-5	0.0
18	14808538	C	A	18	14808539	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.34432709396819E-4	0.036
18	14808538	C	G	18	14808539	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.09873895612743E-4	0.024
18	14808538	C	T	18	14808539	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.88339113189296E-5	0.0
18	14808539	T	A	18	14808540	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00677093207009307	0.164
18	14808539	T	C	18	14808540	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.41664250123999E-4	0.048
18	14808539	T	G	18	14808540	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00868539872630329	0.174
18	14808540	T	A	18	14808541	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0113109574282251	0.11
18	14808540	T	C	18	14808541	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.628193695315E-4	0.01
18	14808540	T	G	18	14808541	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00337241707682995	0.1
18	14808541	T	A	18	14808542	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.83343565212278E-4	0.076
18	14808541	T	C	18	14808542	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.07703442151556E-4	0.0
18	14808541	T	G	18	14808542	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.04734366623378E-4	0.076
18	14808542	T	A	18	14808543	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00162695158582856	0.042
18	14808542	T	C	18	14808543	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.51925392495801E-5	0.0
18	14808542	T	G	18	14808543	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.33328595766616E-4	0.068
18	14808543	C	A	18	14808544	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.64139721259816E-5	0.016
18	14808543	C	G	18	14808544	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.85341884983753E-5	0.028
18	14808543	C	T	18	14808544	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.41582866657689E-5	0.002
18	14808544	T	A	18	14808545	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00559105273710027	0.088
18	14808544	T	C	18	14808545	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.22612899000167E-5	0.0
18	14808544	T	G	18	14808545	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0152040842805975	0.148
18	14808545	T	A	18	14808546	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0149165573885445	0.242
18	14808545	T	C	18	14808546	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.85300080778908E-4	0.024
18	14808545	T	G	18	14808546	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.104455820506948	0.322
18	14808546	T	A	18	14808547	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.89091209716817E-5	0.002
18	14808546	T	C	18	14808547	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.49099425357553E-5	0.0
18	14808546	T	G	18	14808547	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.09201611149266E-4	0.014
18	14808547	T	A	18	14808548	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00914579603079145	0.2
18	14808547	T	C	18	14808548	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.37143402666454E-4	0.004
18	14808547	T	G	18	14808548	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997302140878247	0.718
18	14808548	A	C	18	14808549	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2285-2A>C;ENST00000580206:exon24:c.2256-2A>C)	.	.	0.999962153268756	0.738
18	14808548	A	G	18	14808549	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2285-2A>G;ENST00000580206:exon24:c.2256-2A>G)	.	.	0.999962153268756	0.738
18	14808548	A	T	18	14808549	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2285-2A>T;ENST00000580206:exon24:c.2256-2A>T)	.	.	0.999962153268756	0.728
18	14808549	G	A	18	14808550	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2285-1G>A;ENST00000580206:exon24:c.2256-1G>A)	.	.	0.999962153268756	0.728
18	14808549	G	C	18	14808550	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2285-1G>C;ENST00000580206:exon24:c.2256-1G>C)	.	.	0.999962153268756	0.726
18	14808549	G	T	18	14808550	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2285-1G>T;ENST00000580206:exon24:c.2256-1G>T)	.	.	0.999962153268756	0.726
18	14808550	A	C	18	14808551	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.A2285C:p.E762A;	1.80147626781235E-4	0.012
18	14808550	A	G	18	14808551	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.A2285G:p.E762G;	1.09635778510791E-4	0.0
18	14808550	A	T	18	14808551	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.A2285T:p.E762V;	2.95091703259286E-4	0.004
18	14808551	G	A	18	14808552	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.G2286A:p.E762E;	5.24381721101451E-5	0.0
18	14808551	G	C	18	14808552	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.G2286C:p.E762D;	2.61506907449493E-5	0.002
18	14808551	G	T	18	14808552	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.G2286T:p.E762D;	2.4873780526813E-5	0.0
18	14808576	A	C	18	14808577	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.A2311C:p.K771Q;	2.14760942993282E-4	0.002
18	14808576	A	G	18	14808577	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.A2311G:p.K771E;	8.66978037144809E-5	0.0
18	14808576	A	T	18	14808577	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon25:c.A2311T:p.K771X;	0.0692627316901504	0.344
18	14808577	A	C	18	14808578	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.A2312C:p.K771T;	0.228033804374517	0.44
18	14808577	A	G	18	14808578	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.A2312G:p.K771R;	0.309269489777086	0.532
18	14808577	A	T	18	14808578	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.A2312T:p.K771M;	0.631469980466132	0.676
18	14808578	G	A	18	14808579	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.G2313A:p.K771K;	0.998839502022619	0.878
18	14808578	G	C	18	14808579	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.G2313C:p.K771N;	0.999965112620986	0.85
18	14808578	G	T	18	14808579	n	y	intronic	ANKRD30B	.	.	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon25:c.G2313T:p.K771N;	0.999841110108933	0.868
18	14808579	G	A	18	14808580	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2313+1G>A;ENST00000580206:exon24:c.2284+1G>A)	.	.	0.999962153268756	0.7
18	14808579	G	C	18	14808580	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2313+1G>C;ENST00000580206:exon24:c.2284+1G>C)	.	.	0.999962153268756	0.69
18	14808579	G	T	18	14808580	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2313+1G>T;ENST00000580206:exon24:c.2284+1G>T)	.	.	0.999962153268756	0.7
18	14808580	T	A	18	14808581	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2313+2T>A;ENST00000580206:exon24:c.2284+2T>A)	.	.	0.999962153268756	0.732
18	14808580	T	C	18	14808581	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2313+2T>C;ENST00000580206:exon24:c.2284+2T>C)	.	.	0.863781156261397	0.552
18	14808580	T	G	18	14808581	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000358984:exon25:c.2313+2T>G;ENST00000580206:exon24:c.2284+2T>G)	.	.	0.999962153268756	0.718
18	14808581	A	C	18	14808582	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999496456013805	0.75
18	14808581	A	G	18	14808582	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.524397154123991	0.462
18	14808581	A	T	18	14808582	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999415112345205	0.678
18	14808582	A	C	18	14808583	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.267139360427305	0.486
18	14808582	A	G	18	14808583	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.878031023675099	0.516
18	14808582	A	T	18	14808583	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.615701158255765	0.5
18	14808583	T	A	18	14808584	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.75173641396999E-5	0.008
18	14808583	T	C	18	14808584	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.47986053507036E-5	0.006
18	14808583	T	G	18	14808584	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22118144026293E-4	0.018
18	14808584	T	A	18	14808585	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00204441883657125	0.098
18	14808584	T	C	18	14808585	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0032019361536796	0.146
18	14808584	T	G	18	14808585	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.9774822850897E-5	0.096
18	14808585	A	C	18	14808586	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.50896226550052E-5	0.0
18	14808585	A	G	18	14808586	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.9885451275095E-5	0.002
18	14808585	A	T	18	14808586	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.69764912461541E-5	0.012
18	14808586	C	A	18	14808587	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.91911270740238E-5	0.002
18	14808586	C	G	18	14808587	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.91911270740238E-5	0.0
18	14808586	C	T	18	14808587	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.91911270740238E-5	0.0
18	14808659	A	C	18	14808660	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808659	A	G	18	14808660	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808659	A	T	18	14808660	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808660	A	C	18	14808661	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808660	A	G	18	14808661	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808660	A	T	18	14808661	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808661	A	C	18	14808662	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.0
18	14808661	A	G	18	14808662	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.0
18	14808661	A	T	18	14808662	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.76502774581184E-5	0.0
18	14808662	C	A	18	14808663	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808662	C	G	18	14808663	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808662	C	T	18	14808663	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808663	C	A	18	14808664	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808663	C	G	18	14808664	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808663	C	T	18	14808664	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808664	C	A	18	14808665	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808664	C	G	18	14808665	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808664	C	T	18	14808665	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808665	A	C	18	14808666	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.014
18	14808665	A	G	18	14808666	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.014
18	14808665	A	T	18	14808666	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.016
18	14808666	T	A	18	14808667	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.014
18	14808666	T	C	18	14808667	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.014
18	14808666	T	G	18	14808667	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.014
18	14808667	T	A	18	14808668	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.014
18	14808667	T	C	18	14808668	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.014
18	14808667	T	G	18	14808668	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.014
18	14808668	T	A	18	14808669	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.0
18	14808668	T	C	18	14808669	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.0
18	14808668	T	G	18	14808669	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.0
18	14808669	A	C	18	14808670	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2285-2A>C)	.	.	2.60742385600787E-5	0.018
18	14808669	A	G	18	14808670	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2285-2A>G)	.	.	2.60742385600787E-5	0.018
18	14808669	A	T	18	14808670	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2285-2A>T)	.	.	6.18905158676629E-5	0.02
18	14808670	G	A	18	14808671	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2285-1G>A)	.	.	2.60742385600787E-5	0.022
18	14808670	G	C	18	14808671	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2285-1G>C)	.	.	2.60742385600787E-5	0.02
18	14808670	G	T	18	14808671	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2285-1G>T)	.	.	2.60742385600787E-5	0.02
18	14808671	C	A	18	14808672	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808671	C	G	18	14808672	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808671	C	T	18	14808672	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808672	C	A	18	14808673	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808672	C	G	18	14808673	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808672	C	T	18	14808673	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.68804097905464E-5	0.02
18	14808741	C	A	18	14808742	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.60742385600787E-5	0.022
18	14808741	C	G	18	14808742	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.68804097905464E-5	0.022
18	14808741	C	T	18	14808742	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.60742385600787E-5	0.022
18	14808742	A	C	18	14808743	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808742	A	G	18	14808743	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808742	A	T	18	14808743	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.60742385600787E-5	0.018
18	14808743	G	A	18	14808744	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.60742385600787E-5	0.022
18	14808743	G	C	18	14808744	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.60742385600787E-5	0.032
18	14808743	G	T	18	14808744	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.60742385600787E-5	0.022
18	14808744	G	A	18	14808745	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2357+1G>A)	.	.	4.62829891511816E-5	0.014
18	14808744	G	C	18	14808745	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2357+1G>C)	.	.	4.62829891511816E-5	0.018
18	14808744	G	T	18	14808745	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2357+1G>T)	.	.	4.62829891511816E-5	0.01
18	14808745	T	A	18	14808746	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2357+2T>A)	.	.	8.41208634289763E-5	0.006
18	14808745	T	C	18	14808746	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2357+2T>C)	.	.	8.41208634289763E-5	0.01
18	14808745	T	G	18	14808746	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon25:c.2357+2T>G)	.	.	8.41208634289763E-5	0.01
18	14808746	A	C	18	14808747	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808746	A	G	18	14808747	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808746	A	T	18	14808747	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808747	A	C	18	14808748	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808747	A	G	18	14808748	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808747	A	T	18	14808748	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808748	A	C	18	14808749	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808748	A	G	18	14808749	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808748	A	T	18	14808749	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808749	T	A	18	14808750	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808749	T	C	18	14808750	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808749	T	G	18	14808750	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808750	T	A	18	14808751	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808750	T	C	18	14808751	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808750	T	G	18	14808751	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60742385600787E-5	0.014
18	14808751	T	A	18	14808752	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.76502774581184E-5	0.02
18	14808751	T	C	18	14808752	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.002
18	14808751	T	G	18	14808752	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.002
18	14809973	C	A	18	14809974	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18514214212084E-4	0.102
18	14809973	C	G	18	14809974	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18514214212084E-4	0.094
18	14809973	C	T	18	14809974	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18514214212084E-4	0.126
18	14809974	T	A	18	14809975	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.024
18	14809974	T	C	18	14809975	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.02
18	14809974	T	G	18	14809975	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.02
18	14809975	T	A	18	14809976	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.024
18	14809975	T	C	18	14809976	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.02
18	14809975	T	G	18	14809976	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.02
18	14809976	T	A	18	14809977	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.024
18	14809976	T	C	18	14809977	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.02
18	14809976	T	G	18	14809977	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.62327869165243E-4	0.02
18	14809977	T	A	18	14809978	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.47800409892608E-4	0.03
18	14809977	T	C	18	14809978	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.47800409892608E-4	0.03
18	14809977	T	G	18	14809978	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.47800409892608E-4	0.03
18	14809978	C	A	18	14809979	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.40731724942565E-5	0.006
18	14809978	C	G	18	14809979	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.40731724942565E-5	0.006
18	14809978	C	T	18	14809979	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.40731724942565E-5	0.006
18	14809979	T	A	18	14809980	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809979	T	C	18	14809980	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809979	T	G	18	14809980	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809980	T	A	18	14809981	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809980	T	C	18	14809981	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809980	T	G	18	14809981	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809981	T	A	18	14809982	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809981	T	C	18	14809982	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809981	T	G	18	14809982	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809982	T	A	18	14809983	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809982	T	C	18	14809983	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809982	T	G	18	14809983	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14809983	A	C	18	14809984	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2358-2A>C)	.	.	1.08542144926212E-4	0.04
18	14809983	A	G	18	14809984	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2358-2A>G)	.	.	1.08542144926212E-4	0.036
18	14809983	A	T	18	14809984	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2358-2A>T)	.	.	1.97268896813879E-4	0.032
18	14809984	G	A	18	14809985	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2358-1G>A)	.	.	6.48997428884123E-5	0.036
18	14809984	G	C	18	14809985	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2358-1G>C)	.	.	8.67846572414885E-5	0.192
18	14809984	G	T	18	14809985	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2358-1G>T)	.	.	6.48997428884123E-5	0.076
18	14809985	A	C	18	14809986	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14809985	A	G	18	14809986	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14809985	A	T	18	14809986	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.52706805797628E-5	0.0
18	14809986	G	A	18	14809987	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.40731724942565E-5	0.0
18	14809986	G	C	18	14809987	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.57297939110135E-5	0.0
18	14809986	G	T	18	14809987	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.40731724942565E-5	0.0
18	14810011	A	C	18	14810012	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.68219155180855E-5	0.002
18	14810011	A	G	18	14810012	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.68219155180855E-5	0.002
18	14810011	A	T	18	14810012	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	4.14301101535901E-5	0.002
18	14810012	A	C	18	14810013	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810012	A	G	18	14810013	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810012	A	T	18	14810013	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	6.11505603784964E-5	0.07
18	14810013	G	A	18	14810014	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.09
18	14810013	G	C	18	14810014	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.086
18	14810013	G	T	18	14810014	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.09
18	14810014	G	A	18	14810015	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2386+1G>A)	.	.	1.17955633684246E-4	0.028
18	14810014	G	C	18	14810015	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2386+1G>C)	.	.	6.48997428884123E-5	0.032
18	14810014	G	T	18	14810015	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2386+1G>T)	.	.	6.48997428884123E-5	0.034
18	14810015	T	A	18	14810016	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2386+2T>A)	.	.	1.97268896813879E-4	0.032
18	14810015	T	C	18	14810016	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2386+2T>C)	.	.	1.97268896813879E-4	0.032
18	14810015	T	G	18	14810016	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon26:c.2386+2T>G)	.	.	1.97268896813879E-4	0.032
18	14810016	A	C	18	14810017	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810016	A	G	18	14810017	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810016	A	T	18	14810017	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.068
18	14810017	A	C	18	14810018	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810017	A	G	18	14810018	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810017	A	T	18	14810018	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.068
18	14810018	T	A	18	14810019	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.59660858139777E-5	0.0
18	14810018	T	C	18	14810019	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.59660858139777E-5	0.0
18	14810018	T	G	18	14810019	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.59660858139777E-5	0.0
18	14810019	A	C	18	14810020	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810019	A	G	18	14810020	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810019	A	T	18	14810020	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.07
18	14810020	A	C	18	14810021	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810020	A	G	18	14810021	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810020	A	T	18	14810021	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.07
18	14810021	C	A	18	14810022	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.656257225066E-5	0.09
18	14810021	C	G	18	14810022	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.656257225066E-5	0.086
18	14810021	C	T	18	14810022	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.656257225066E-5	0.09
18	14810095	A	C	18	14810096	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.07
18	14810095	A	G	18	14810096	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.07
18	14810095	A	T	18	14810096	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.45141625978766E-4	0.072
18	14810096	A	C	18	14810097	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.45141625978766E-4	0.074
18	14810096	A	G	18	14810097	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.45141625978766E-4	0.074
18	14810096	A	T	18	14810097	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.45141625978766E-4	0.076
18	14810097	A	C	18	14810098	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52706805797628E-5	0.0
18	14810097	A	G	18	14810098	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52706805797628E-5	0.0
18	14810097	A	T	18	14810098	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.64774154134373E-5	0.0
18	14810098	C	A	18	14810099	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52706805797628E-5	0.0
18	14810098	C	G	18	14810099	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52706805797628E-5	0.004
18	14810098	C	T	18	14810099	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52706805797628E-5	0.0
18	14810099	C	A	18	14810100	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810099	C	G	18	14810100	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810099	C	T	18	14810100	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810100	C	A	18	14810101	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810100	C	G	18	14810101	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810100	C	T	18	14810101	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810101	A	C	18	14810102	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810101	A	G	18	14810102	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810101	A	T	18	14810102	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810102	T	A	18	14810103	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810102	T	C	18	14810103	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810102	T	G	18	14810103	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810103	T	A	18	14810104	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810103	T	C	18	14810104	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810103	T	G	18	14810104	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810104	T	A	18	14810105	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.0
18	14810104	T	C	18	14810105	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.0
18	14810104	T	G	18	14810105	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14267203131726E-5	0.0
18	14810105	A	C	18	14810106	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2387-2A>C)	.	.	1.08542144926212E-4	0.034
18	14810105	A	G	18	14810106	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2387-2A>G)	.	.	1.08542144926212E-4	0.034
18	14810105	A	T	18	14810106	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2387-2A>T)	.	.	1.97268896813879E-4	0.038
18	14810106	G	A	18	14810107	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2387-1G>A)	.	.	6.48997428884123E-5	0.036
18	14810106	G	C	18	14810107	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2387-1G>C)	.	.	8.67846572414885E-5	0.162
18	14810106	G	T	18	14810107	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2387-1G>T)	.	.	6.48997428884123E-5	0.084
18	14810107	C	A	18	14810108	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.088
18	14810107	C	G	18	14810108	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810107	C	T	18	14810108	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.086
18	14810108	C	A	18	14810109	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810108	C	G	18	14810109	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810108	C	T	18	14810109	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.086
18	14810177	C	A	18	14810178	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.086
18	14810177	C	G	18	14810178	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.088
18	14810177	C	T	18	14810178	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.09
18	14810178	A	C	18	14810179	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810178	A	G	18	14810179	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810178	A	T	18	14810179	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	6.11505603784964E-5	0.066
18	14810179	G	A	18	14810180	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.09
18	14810179	G	C	18	14810180	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.086
18	14810179	G	T	18	14810180	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.656257225066E-5	0.09
18	14810180	G	A	18	14810181	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2459+1G>A)	.	.	1.17955633684246E-4	0.034
18	14810180	G	C	18	14810181	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2459+1G>C)	.	.	6.48997428884123E-5	0.036
18	14810180	G	T	18	14810181	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2459+1G>T)	.	.	6.48997428884123E-5	0.032
18	14810181	T	A	18	14810182	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2459+2T>A)	.	.	1.97268896813879E-4	0.032
18	14810181	T	C	18	14810182	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2459+2T>C)	.	.	1.97268896813879E-4	0.032
18	14810181	T	G	18	14810182	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon27:c.2459+2T>G)	.	.	1.97268896813879E-4	0.032
18	14810182	A	C	18	14810183	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810182	A	G	18	14810183	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810182	A	T	18	14810183	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810183	A	C	18	14810184	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810183	A	G	18	14810184	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810183	A	T	18	14810184	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810184	A	C	18	14810185	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810184	A	G	18	14810185	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810184	A	T	18	14810185	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810185	C	A	18	14810186	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.68219155180855E-5	0.0
18	14810185	C	G	18	14810186	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.68219155180855E-5	0.0
18	14810185	C	T	18	14810186	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.68219155180855E-5	0.0
18	14810186	T	A	18	14810187	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810186	T	C	18	14810187	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810186	T	G	18	14810187	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.11505603784964E-5	0.064
18	14810187	T	A	18	14810188	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14810187	T	C	18	14810188	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14810187	T	G	18	14810188	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14813091	A	C	18	14813092	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22715807398031E-5	0.0
18	14813091	A	G	18	14813092	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22715807398031E-5	0.0
18	14813091	A	T	18	14813092	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22715807398031E-5	0.0
18	14813092	A	C	18	14813093	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.28940461414424E-6	0.0
18	14813092	A	G	18	14813093	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.28940461414424E-6	0.0
18	14813092	A	T	18	14813093	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.71495267734267E-6	0.0
18	14813093	C	A	18	14813094	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.90177193295887E-6	0.0
18	14813093	C	G	18	14813094	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.90177193295887E-6	0.0
18	14813093	C	T	18	14813094	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.90177193295887E-6	0.0
18	14813094	C	A	18	14813095	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.95241758590049E-5	0.012
18	14813094	C	G	18	14813095	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.95241758590049E-5	0.012
18	14813094	C	T	18	14813095	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.95241758590049E-5	0.012
18	14813095	T	A	18	14813096	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813095	T	C	18	14813096	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813095	T	G	18	14813096	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813096	T	A	18	14813097	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813096	T	C	18	14813097	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813096	T	G	18	14813097	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813097	T	A	18	14813098	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813097	T	C	18	14813098	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813097	T	G	18	14813098	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813098	T	A	18	14813099	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.28940461414424E-6	0.0
18	14813098	T	C	18	14813099	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.28940461414424E-6	0.0
18	14813098	T	G	18	14813099	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.28940461414424E-6	0.0
18	14813099	A	C	18	14813100	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.28940461414424E-6	0.0
18	14813099	A	G	18	14813100	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.28940461414424E-6	0.0
18	14813099	A	T	18	14813100	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.28940461414424E-6	0.0
18	14813100	T	A	18	14813101	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813100	T	C	18	14813101	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813100	T	G	18	14813101	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813101	A	C	18	14813102	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2460-2A>C)	.	.	3.32861426591465E-4	0.14
18	14813101	A	G	18	14813102	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2460-2A>G)	.	.	3.32861426591465E-4	0.142
18	14813101	A	T	18	14813102	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2460-2A>T)	.	.	3.32861426591465E-4	0.194
18	14813102	G	A	18	14813103	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2460-1G>A)	.	.	3.18514214212084E-4	0.064
18	14813102	G	C	18	14813103	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2460-1G>C)	.	.	1.34208757508979E-4	0.056
18	14813102	G	T	18	14813103	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2460-1G>T)	.	.	3.18514214212084E-4	0.06
18	14813103	C	A	18	14813104	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.01113710158293E-5	0.0
18	14813103	C	G	18	14813104	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.01113710158293E-5	0.0
18	14813103	C	T	18	14813104	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.01113710158293E-5	0.0
18	14813104	T	A	18	14813105	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.40255246023652E-4	0.128
18	14813104	T	C	18	14813105	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813104	T	G	18	14813105	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	9.08046211320676E-5	0.126
18	14813162	G	A	18	14813163	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.34208757508979E-4	0.06
18	14813162	G	C	18	14813163	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.34208757508979E-4	0.056
18	14813162	G	T	18	14813163	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.34208757508979E-4	0.056
18	14813163	A	C	18	14813164	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.32861426591465E-4	0.164
18	14813163	A	G	18	14813164	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.32861426591465E-4	0.164
18	14813163	A	T	18	14813164	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.4893757061432E-4	0.096
18	14813164	G	A	18	14813165	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.18514214212084E-4	0.072
18	14813164	G	C	18	14813165	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	1.34208757508979E-4	0.058
18	14813164	G	T	18	14813165	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.18514214212084E-4	0.06
18	14813165	G	A	18	14813166	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2521+1G>A)	.	.	4.41863113010999E-4	0.004
18	14813165	G	C	18	14813166	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2521+1G>C)	.	.	4.41863113010999E-4	0.004
18	14813165	G	T	18	14813166	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2521+1G>T)	.	.	4.41863113010999E-4	0.004
18	14813166	T	A	18	14813167	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2521+2T>A)	.	.	4.27686813845516E-4	0.068
18	14813166	T	C	18	14813167	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2521+2T>C)	.	.	2.06271192742008E-4	0.068
18	14813166	T	G	18	14813167	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon28:c.2521+2T>G)	.	.	2.06271192742008E-4	0.068
18	14813167	A	C	18	14813168	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.32861426591465E-4	0.19
18	14813167	A	G	18	14813168	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.32861426591465E-4	0.182
18	14813167	A	T	18	14813168	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.4893757061432E-4	0.076
18	14813168	C	A	18	14813169	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18514214212084E-4	0.062
18	14813168	C	G	18	14813169	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34208757508979E-4	0.058
18	14813168	C	T	18	14813169	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18514214212084E-4	0.066
18	14813169	T	A	18	14813170	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.4893757061432E-4	0.076
18	14813169	T	C	18	14813170	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.32861426591465E-4	0.174
18	14813169	T	G	18	14813170	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.32861426591465E-4	0.176
18	14813170	G	A	18	14813171	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18514214212084E-4	0.062
18	14813170	G	C	18	14813171	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34208757508979E-4	0.056
18	14813170	G	T	18	14813171	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34208757508979E-4	0.06
18	14813171	T	A	18	14813172	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.32861426591465E-4	0.15
18	14813171	T	C	18	14813172	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.32861426591465E-4	0.14
18	14813171	T	G	18	14813172	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.32861426591465E-4	0.14
18	14813172	G	A	18	14813173	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.37501361942679E-5	0.0
18	14813172	G	C	18	14813173	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.90177193295887E-6	0.0
18	14813172	G	T	18	14813173	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.90177193295887E-6	0.014
18	14814608	T	A	18	14814609	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.41146036731193E-4	0.0
18	14814608	T	C	18	14814609	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.80639203006162E-5	0.0
18	14814608	T	G	18	14814609	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.80639203006162E-5	0.0
18	14814609	A	C	18	14814610	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.95279944443104E-5	0.01
18	14814609	A	G	18	14814610	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.95279944443104E-5	0.01
18	14814609	A	T	18	14814610	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.30199407269916E-4	0.01
18	14814610	C	A	18	14814611	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.88879949879687E-5	0.0
18	14814610	C	G	18	14814611	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.88879949879687E-5	0.0
18	14814610	C	T	18	14814611	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.88879949879687E-5	0.0
18	14814611	T	A	18	14814612	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.01052084207429E-4	0.024
18	14814611	T	C	18	14814612	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22809391682198E-4	0.024
18	14814611	T	G	18	14814612	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.22809391682198E-4	0.024
18	14814612	T	A	18	14814613	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.03
18	14814612	T	C	18	14814613	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.026
18	14814612	T	G	18	14814613	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.026
18	14814613	T	A	18	14814614	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.028
18	14814613	T	C	18	14814614	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.04
18	14814613	T	G	18	14814614	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.04
18	14814614	T	A	18	14814615	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.026
18	14814614	T	C	18	14814615	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.052
18	14814614	T	G	18	14814615	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.042
18	14814615	A	C	18	14814616	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.55740129284333E-5	0.21
18	14814615	A	G	18	14814616	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.55740129284333E-5	0.12
18	14814615	A	T	18	14814616	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.026
18	14814616	A	C	18	14814617	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.55740129284333E-5	0.078
18	14814616	A	G	18	14814617	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.55740129284333E-5	0.076
18	14814616	A	T	18	14814617	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.14728019021036E-5	0.03
18	14814617	C	A	18	14814618	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.656257225066E-5	0.098
18	14814617	C	G	18	14814618	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.656257225066E-5	0.098
18	14814617	C	T	18	14814618	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.61664215935896E-5	0.102
18	14814618	A	C	18	14814619	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2522-2A>C)	.	.	5.92209988256002E-5	0.024
18	14814618	A	G	18	14814619	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2522-2A>G)	.	.	5.92209988256002E-5	0.024
18	14814618	A	T	18	14814619	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2522-2A>T)	.	.	5.92209988256002E-5	0.024
18	14814619	G	A	18	14814620	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2522-1G>A)	.	.	1.17955633684246E-4	0.03
18	14814619	G	C	18	14814620	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2522-1G>C)	.	.	1.17955633684246E-4	0.03
18	14814619	G	T	18	14814620	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2522-1G>T)	.	.	1.17955633684246E-4	0.03
18	14814620	A	C	18	14814621	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814620	A	G	18	14814621	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814620	A	T	18	14814621	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	9.55740129284333E-5	0.056
18	14814621	G	A	18	14814622	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.30338091304305E-5	0.0
18	14814621	G	C	18	14814622	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.30338091304305E-5	0.0
18	14814621	G	T	18	14814622	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	3.30338091304305E-5	0.0
18	14814708	A	C	18	14814709	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.68219155180855E-5	0.0
18	14814708	A	G	18	14814709	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.68219155180855E-5	0.0
18	14814708	A	T	18	14814709	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.68219155180855E-5	0.0
18	14814709	A	C	18	14814710	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814709	A	G	18	14814710	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814709	A	T	18	14814710	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814710	G	A	18	14814711	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.094
18	14814710	G	C	18	14814711	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.094
18	14814710	G	T	18	14814711	n	y	intronic	ANKRD30B	.	.	UTR3	ENSG00000180777	.	.	2.36706235441767E-5	0.094
18	14814711	G	A	18	14814712	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2612+1G>A)	.	.	6.48997428884123E-5	0.038
18	14814711	G	C	18	14814712	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2612+1G>C)	.	.	8.67846572414885E-5	0.16
18	14814711	G	T	18	14814712	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2612+1G>T)	.	.	6.48997428884123E-5	0.124
18	14814712	T	A	18	14814713	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2612+2T>A)	.	.	1.29901505916903E-4	0.03
18	14814712	T	C	18	14814713	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2612+2T>C)	.	.	7.14728019021036E-5	0.026
18	14814712	T	G	18	14814713	n	y	intronic	ANKRD30B	.	.	splicing	ENSG00000180777(ENST00000580206:exon29:c.2612+2T>G)	.	.	7.14728019021036E-5	0.026
18	14814713	A	C	18	14814714	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814713	A	G	18	14814714	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814713	A	T	18	14814714	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814714	A	C	18	14814715	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814714	A	G	18	14814715	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814714	A	T	18	14814715	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814715	G	A	18	14814716	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.024
18	14814715	G	C	18	14814716	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.024
18	14814715	G	T	18	14814716	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.68804097905464E-5	0.024
18	14814716	A	C	18	14814717	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14814716	A	G	18	14814717	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14814716	A	T	18	14814717	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52706805797628E-5	0.02
18	14814717	A	C	18	14814718	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814717	A	G	18	14814718	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814717	A	T	18	14814718	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.02657524923954E-5	0.048
18	14814718	C	A	18	14814719	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14814718	C	G	18	14814719	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14814718	C	T	18	14814719	n	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.88617034369045E-6	0.0
18	14822470	C	A	18	14822471	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.63360899965148E-5	0.0
18	14822470	C	G	18	14822471	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.63360899965148E-5	0.0
18	14822470	C	T	18	14822471	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.63360899965148E-5	0.0
18	14822471	T	A	18	14822472	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822471	T	C	18	14822472	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822471	T	G	18	14822472	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822472	T	A	18	14822473	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822472	T	C	18	14822473	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822472	T	G	18	14822473	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822473	T	A	18	14822474	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.50378308532496E-5	0.0
18	14822473	T	C	18	14822474	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.50378308532496E-5	0.0
18	14822473	T	G	18	14822474	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.50378308532496E-5	0.0
18	14822474	T	A	18	14822475	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.50378308532496E-5	0.0
18	14822474	T	C	18	14822475	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.50378308532496E-5	0.0
18	14822474	T	G	18	14822475	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.50378308532496E-5	0.0
18	14822475	C	A	18	14822476	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.92483981704387E-5	0.0
18	14822475	C	G	18	14822476	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.92483981704387E-5	0.002
18	14822475	C	T	18	14822476	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.92483981704387E-5	0.0
18	14822476	T	A	18	14822477	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822476	T	C	18	14822477	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.52377315418934E-4	0.068
18	14822476	T	G	18	14822477	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.74855682740054E-4	0.068
18	14822477	T	A	18	14822478	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822477	T	C	18	14822478	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.52377315418934E-4	0.068
18	14822477	T	G	18	14822478	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.52377315418934E-4	0.07
18	14822478	T	A	18	14822479	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.06271192742008E-4	0.068
18	14822478	T	C	18	14822479	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.52377315418934E-4	0.07
18	14822478	T	G	18	14822479	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.52377315418934E-4	0.07
18	14822479	T	A	18	14822480	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.50378308532496E-5	0.0
18	14822479	T	C	18	14822480	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.3820400020461E-5	0.0
18	14822479	T	G	18	14822480	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.3820400020461E-5	0.0
18	14822480	A	C	18	14822481	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2285-2A>C)	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.52377315418934E-4	0.07
18	14822480	A	G	18	14822481	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2285-2A>G)	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.52377315418934E-4	0.07
18	14822480	A	T	18	14822481	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2285-2A>T)	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.52377315418934E-4	0.07
18	14822481	G	A	18	14822482	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2285-1G>A)	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.38206837572038E-4	0.014
18	14822481	G	C	18	14822482	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2285-1G>C)	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.38206837572038E-4	0.01
18	14822481	G	T	18	14822482	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2285-1G>T)	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.38206837572038E-4	0.01
18	14822482	A	C	18	14822483	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.A2285C:p.E762A;	ncRNA_intronic	ENSG00000265737	.	.	2.32646706263847E-5	0.0
18	14822482	A	G	18	14822483	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.A2285G:p.E762G;	ncRNA_intronic	ENSG00000265737	.	.	2.32646706263847E-5	0.0
18	14822482	A	T	18	14822483	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.A2285T:p.E762V;	ncRNA_intronic	ENSG00000265737	.	.	2.32646706263847E-5	0.0
18	14822483	G	A	18	14822484	y	n	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon25:c.G2286A:p.E762E;	ncRNA_intronic	ENSG00000265737	.	.	2.11203329754734E-5	0.0
18	14822483	G	C	18	14822484	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.G2286C:p.E762D;	ncRNA_intronic	ENSG00000265737	.	.	1.95735775412773E-5	0.0
18	14822483	G	T	18	14822484	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.G2286T:p.E762D;	ncRNA_intronic	ENSG00000265737	.	.	1.95735775412773E-5	0.0
18	14822508	A	C	18	14822509	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.A2311C:p.K771Q;	ncRNA_intronic	ENSG00000265737	.	.	2.68219155180855E-5	0.002
18	14822508	A	G	18	14822509	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.A2311G:p.K771E;	ncRNA_intronic	ENSG00000265737	.	.	2.68219155180855E-5	0.002
18	14822508	A	T	18	14822509	y	n	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon25:c.A2311T:p.K771X;	ncRNA_intronic	ENSG00000265737	.	.	2.68219155180855E-5	0.002
18	14822509	A	C	18	14822510	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.A2312C:p.K771T;	ncRNA_intronic	ENSG00000265737	.	.	9.71495267734267E-6	0.0
18	14822509	A	G	18	14822510	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.A2312G:p.K771R;	ncRNA_intronic	ENSG00000265737	.	.	9.71495267734267E-6	0.0
18	14822509	A	T	18	14822510	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.A2312T:p.K771M;	ncRNA_intronic	ENSG00000265737	.	.	9.71495267734267E-6	0.0
18	14822510	G	A	18	14822511	y	n	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon25:c.G2313A:p.K771K;	ncRNA_intronic	ENSG00000265737	.	.	8.90177193295887E-6	0.01
18	14822510	G	C	18	14822511	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.G2313C:p.K771N;	ncRNA_intronic	ENSG00000265737	.	.	8.90177193295887E-6	0.0
18	14822510	G	T	18	14822511	y	n	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon25:c.G2313T:p.K771N;	ncRNA_intronic	ENSG00000265737	.	.	8.90177193295887E-6	0.0
18	14822511	G	A	18	14822512	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2313+1G>A)	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.34208757508979E-4	0.056
18	14822511	G	C	18	14822512	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2313+1G>C)	.	.	ncRNA_intronic	ENSG00000265737	.	.	8.68897937138949E-5	0.052
18	14822511	G	T	18	14822512	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2313+1G>T)	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.34208757508979E-4	0.062
18	14822512	T	A	18	14822513	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2313+2T>A)	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.132
18	14822512	T	C	18	14822513	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2313+2T>C)	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822512	T	G	18	14822513	y	n	splicing	ANKRD30B(NM_001145029:exon25:c.2313+2T>G)	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822513	A	C	18	14822514	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822513	A	G	18	14822514	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822513	A	T	18	14822514	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.132
18	14822514	A	C	18	14822515	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822514	A	G	18	14822515	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822514	A	T	18	14822515	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.13
18	14822515	T	A	18	14822516	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.68219155180855E-5	0.0
18	14822515	T	C	18	14822516	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.68219155180855E-5	0.0
18	14822515	T	G	18	14822516	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.68219155180855E-5	0.0
18	14822516	A	C	18	14822517	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822516	A	G	18	14822517	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822516	A	T	18	14822517	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.13
18	14822517	A	C	18	14822518	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822517	A	G	18	14822518	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.128
18	14822517	A	T	18	14822518	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.40255246023652E-4	0.13
18	14822518	C	A	18	14822519	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	9.88617034369045E-6	0.0
18	14822518	C	G	18	14822519	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	9.88617034369045E-6	0.0
18	14822518	C	T	18	14822519	y	n	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	9.88617034369045E-6	0.0
18	14822592	A	C	18	14822593	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	9.30248736112616E-5	0.014
18	14822592	A	G	18	14822593	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	5.05311297723167E-5	0.05
18	14822592	A	T	18	14822593	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.84069506605212E-4	0.092
18	14822593	A	C	18	14822594	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	5.99019535901982E-5	0.012
18	14822593	A	G	18	14822594	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.997403023039986	0.972
18	14822593	A	T	18	14822594	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	6.52019813628969E-4	0.138
18	14822594	A	C	18	14822595	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.87793597490846E-5	0.016
18	14822594	A	G	18	14822595	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.993494059212496	0.97
18	14822594	A	T	18	14822595	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.6465935526775E-5	0.064
18	14822595	C	A	18	14822596	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.00141579435972986	0.24
18	14822595	C	G	18	14822596	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.999189601944101	0.97
18	14822595	C	T	18	14822596	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.67493237677821E-5	0.008
18	14822596	C	A	18	14822597	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.00369160476982544	0.306
18	14822596	C	G	18	14822597	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.00315986728486134	0.282
18	14822596	C	T	18	14822597	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.09029389024364E-5	0.012
18	14822597	C	A	18	14822598	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.50387958788744E-4	0.17
18	14822597	C	G	18	14822598	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.64329442877919E-4	0.126
18	14822597	C	T	18	14822598	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.60433886793066E-5	0.0
18	14822598	A	C	18	14822599	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.36475164215061E-5	0.024
18	14822598	A	G	18	14822599	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	7.26027568768904E-6	0.002
18	14822598	A	T	18	14822599	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.44567246961622E-5	0.0
18	14822599	T	A	18	14822600	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.835247840697162	0.668
18	14822599	T	C	18	14822600	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.00347748084108836	0.198
18	14822599	T	G	18	14822600	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.999353450798163	0.926
18	14822600	T	A	18	14822601	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.20933648064149E-6	0.0
18	14822600	T	C	18	14822601	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.38664018215644E-5	0.014
18	14822600	T	G	18	14822601	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	9.36553344863086E-6	0.024
18	14822601	T	A	18	14822602	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.0189976657804602	0.312
18	14822601	T	C	18	14822602	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	6.30333562562394E-5	0.054
18	14822601	T	G	18	14822602	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.386007836120937	0.468
18	14822602	A	C	18	14822603	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2314-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2314-2A>C)	.	.	0.999619755915597	0.648
18	14822602	A	G	18	14822603	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2314-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2314-2A>G)	.	.	0.999619755915597	0.658
18	14822602	A	T	18	14822603	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2314-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2314-2A>T)	.	.	0.999619755915597	0.648
18	14822603	G	A	18	14822604	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2314-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2314-1G>A)	.	.	0.999619755915597	0.672
18	14822603	G	C	18	14822604	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2314-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2314-1G>C)	.	.	0.999619755915597	0.678
18	14822603	G	T	18	14822604	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2314-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2314-1G>T)	.	.	0.999619755915597	0.676
18	14822604	C	A	18	14822605	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2314A:p.P772T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2314A:p.P772T;	2.66924481416897E-5	0.008
18	14822604	C	G	18	14822605	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2314G:p.P772A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2314G:p.P772A;	3.01806200118076E-4	0.216
18	14822604	C	T	18	14822605	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2314T:p.P772S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2314T:p.P772S;	9.87144242433302E-5	0.054
18	14822605	C	A	18	14822606	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2315A:p.P772H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2315A:p.P772H;	5.27807636743219E-5	0.012
18	14822605	C	G	18	14822606	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2315G:p.P772R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2315G:p.P772R;	1.24209629594205E-4	0.036
18	14822605	C	T	18	14822606	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2315T:p.P772L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2315T:p.P772L;	7.96153042519364E-5	0.016
18	14822674	C	A	18	14822675	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2384A:p.A795E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2384A:p.A795E;	0.00163282035882489	0.046
18	14822674	C	G	18	14822675	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2384G:p.A795G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2384G:p.A795G;	9.90338590336679E-4	0.02
18	14822674	C	T	18	14822675	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.C2384T:p.A795V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.C2384T:p.A795V;	0.315216050221991	0.522
18	14822675	A	C	18	14822676	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon26:c.A2385C:p.A795A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.A2385C:p.A795A;	0.372577467358067	0.534
18	14822675	A	G	18	14822676	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon26:c.A2385G:p.A795A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.A2385G:p.A795A;	0.822293820374349	0.582
18	14822675	A	T	18	14822676	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon26:c.A2385T:p.A795A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.A2385T:p.A795A;	0.937282748085733	0.642
18	14822676	G	A	18	14822677	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.G2386A:p.E796K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.G2386A:p.E796K;	0.999409945304875	0.92
18	14822676	G	C	18	14822677	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon26:c.G2386C:p.E796Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon26:c.G2386C:p.E796Q;	0.999990447172183	0.952
18	14822676	G	T	18	14822677	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon26:c.G2386T:p.E796X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon26:c.G2386T:p.E796X;	0.999891750062396	0.922
18	14822677	G	A	18	14822678	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2386+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2386+1G>A)	.	.	0.999962956133083	0.77
18	14822677	G	C	18	14822678	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2386+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2386+1G>C)	.	.	0.99996947969426	0.774
18	14822677	G	T	18	14822678	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2386+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2386+1G>T)	.	.	0.999962956133083	0.774
18	14822678	T	A	18	14822679	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2386+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2386+2T>A)	.	.	0.999971596609132	0.76
18	14822678	T	C	18	14822679	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2386+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2386+2T>C)	.	.	0.927757577623556	0.518
18	14822678	T	G	18	14822679	y	y	splicing	ANKRD30B(NM_001145029:exon26:c.2386+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon26:c.2386+2T>G)	.	.	0.999962956133083	0.774
18	14822679	A	C	18	14822680	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.998804243350487	0.766
18	14822679	A	G	18	14822680	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.0925170363877537	0.462
18	14822679	A	T	18	14822680	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.999056063994249	0.732
18	14822680	A	C	18	14822681	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.396537115015895	0.284
18	14822680	A	G	18	14822681	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.386871030304043	0.414
18	14822680	A	T	18	14822681	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.446144268718637	0.434
18	14822681	A	C	18	14822682	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	5.11551086641095E-4	0.06
18	14822681	A	G	18	14822682	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.00154752589316565	0.102
18	14822681	A	T	18	14822682	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.00128403242175279	0.05
18	14822682	T	A	18	14822683	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.00176668080060597	0.096
18	14822682	T	C	18	14822683	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	0.00619625595211689	0.136
18	14822682	T	G	18	14822683	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.20055373481718E-4	0.11
18	14822683	T	A	18	14822684	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.8465156244056E-4	0.018
18	14822683	T	C	18	14822684	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	4.8465156244056E-4	0.018
18	14822683	T	G	18	14822684	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	3.81942661741524E-4	0.018
18	14822684	T	A	18	14822685	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.5636934292156E-5	0.0
18	14822684	T	C	18	14822685	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	1.41049757184428E-5	0.0
18	14822684	T	G	18	14822685	y	y	intronic	ANKRD30B	.	.	ncRNA_intronic	ENSG00000265737	.	.	2.36003945770045E-5	0.0
18	14828265	T	A	18	14828266	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.33257651678316E-4	0.182
18	14828265	T	C	18	14828266	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.54548749585758E-4	0.078
18	14828265	T	G	18	14828266	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.77568317870441E-4	0.22
18	14828266	T	A	18	14828267	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0124054168466325	0.28
18	14828266	T	C	18	14828267	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00319329966546257	0.148
18	14828266	T	G	18	14828267	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00283978185559575	0.278
18	14828267	T	A	18	14828268	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00705599235514067	0.198
18	14828267	T	C	18	14828268	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.18718992356011E-4	0.048
18	14828267	T	G	18	14828268	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00191210760564177	0.162
18	14828268	C	A	18	14828269	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.44109832330539E-4	0.056
18	14828268	C	G	18	14828269	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.54711467157116E-4	0.028
18	14828268	C	T	18	14828269	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.13688521411351E-5	0.012
18	14828269	T	A	18	14828270	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.66454967962759E-4	0.03
18	14828269	T	C	18	14828270	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.14232822610456E-5	0.004
18	14828269	T	G	18	14828270	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.12951651858842E-4	0.03
18	14828270	T	A	18	14828271	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.96544165980129E-4	0.028
18	14828270	T	C	18	14828271	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.89523207431553E-5	0.002
18	14828270	T	G	18	14828271	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.35881345719502E-4	0.04
18	14828271	T	A	18	14828272	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.52729162494209E-4	0.052
18	14828271	T	C	18	14828272	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.03447300186151E-5	0.004
18	14828271	T	G	18	14828272	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.10175424299119E-4	0.076
18	14828272	A	C	18	14828273	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.71162223226425E-5	0.002
18	14828272	A	G	18	14828273	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.43551686372954E-5	0.05
18	14828272	A	T	18	14828273	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.37398821741675E-4	0.01
18	14828273	A	C	18	14828274	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.36963582717719E-5	0.006
18	14828273	A	G	18	14828274	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.93879401615576	0.828
18	14828273	A	T	18	14828274	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.49813245466986E-5	0.002
18	14828274	T	A	18	14828275	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0042670326601541	0.176
18	14828274	T	C	18	14828275	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.03629098605788E-5	0.046
18	14828274	T	G	18	14828275	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.991383057730279	0.722
18	14828275	A	C	18	14828276	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2387-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2387-2A>C)	.	.	0.999973093631733	0.746
18	14828275	A	G	18	14828276	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2387-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2387-2A>G)	.	.	0.999973093631733	0.746
18	14828275	A	T	18	14828276	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2387-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2387-2A>T)	.	.	0.999973093631733	0.768
18	14828276	G	A	18	14828277	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2387-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2387-1G>A)	.	.	0.999982032508229	0.742
18	14828276	G	C	18	14828277	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2387-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2387-1G>C)	.	.	0.999982032508229	0.748
18	14828276	G	T	18	14828277	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2387-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2387-1G>T)	.	.	0.999982032508229	0.752
18	14828277	A	C	18	14828278	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.A2387C:p.E796A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.A2387C:p.E796A;	6.09749069463995E-5	0.026
18	14828277	A	G	18	14828278	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.A2387G:p.E796G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.A2387G:p.E796G;	1.47226774734786E-5	0.004
18	14828277	A	T	18	14828278	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.A2387T:p.E796V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.A2387T:p.E796V;	3.20745420296305E-5	0.002
18	14828278	G	A	18	14828279	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon27:c.G2388A:p.E796E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.G2388A:p.E796E;	1.16954136533215E-4	0.032
18	14828278	G	C	18	14828279	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.G2388C:p.E796D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.G2388C:p.E796D;	1.16954136533215E-4	0.022
18	14828278	G	T	18	14828279	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.G2388T:p.E796D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.G2388T:p.E796D;	2.86553719793794E-4	0.018
18	14828305	C	A	18	14828306	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.C2415A:p.F805L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.C2415A:p.F805L;	1.17872422128191E-5	0.012
18	14828305	C	G	18	14828306	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.C2415G:p.F805L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.C2415G:p.F805L;	2.10202253525847E-5	0.004
18	14828305	C	T	18	14828306	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon27:c.C2415T:p.F805F;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.C2415T:p.F805F;	1.98696772237223E-4	0.026
18	14828306	A	C	18	14828307	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.A2416C:p.S806R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.A2416C:p.S806R;	0.395395403824295	0.446
18	14828306	A	G	18	14828307	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.A2416G:p.S806G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.A2416G:p.S806G;	0.399301725644316	0.4
18	14828306	A	T	18	14828307	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.A2416T:p.S806C;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.A2416T:p.S806C;	0.52639581264394	0.412
18	14828307	G	A	18	14828308	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.G2417A:p.S806N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.G2417A:p.S806N;	0.94773336269126	0.664
18	14828307	G	C	18	14828308	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.G2417C:p.S806T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.G2417C:p.S806T;	0.996509028900899	0.636
18	14828307	G	T	18	14828308	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon27:c.G2417T:p.S806I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon27:c.G2417T:p.S806I;	0.995935767894524	0.842
18	14828308	G	A	18	14828309	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2417+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2417+1G>A)	.	.	0.999982032508229	0.72
18	14828308	G	C	18	14828309	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2417+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2417+1G>C)	.	.	0.999982032508229	0.676
18	14828308	G	T	18	14828309	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2417+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2417+1G>T)	.	.	0.999982032508229	0.676
18	14828309	T	A	18	14828310	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2417+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2417+2T>A)	.	.	0.999973093631733	0.728
18	14828309	T	C	18	14828310	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2417+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2417+2T>C)	.	.	0.72803792982027	0.458
18	14828309	T	G	18	14828310	y	y	splicing	ANKRD30B(NM_001145029:exon27:c.2417+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon27:c.2417+2T>G)	.	.	0.999973093631733	0.716
18	14828310	A	C	18	14828311	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.81242164859243	0.524
18	14828310	A	G	18	14828311	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.002910160490137	0.136
18	14828310	A	T	18	14828311	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.929447287803766	0.628
18	14828311	A	C	18	14828312	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0167988923859965	0.406
18	14828311	A	G	18	14828312	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0234462283294955	0.43
18	14828311	A	T	18	14828312	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0395991487083075	0.404
18	14828312	G	A	18	14828313	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.89002707738915	0.536
18	14828312	G	C	18	14828313	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.895606620001686	0.512
18	14828312	G	T	18	14828313	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.964709867732658	0.528
18	14828313	A	C	18	14828314	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.65023967753091E-5	0.014
18	14828313	A	G	18	14828314	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.56005985805807E-5	0.002
18	14828313	A	T	18	14828314	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.5046700397414E-5	0.008
18	14828314	C	A	18	14828315	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.48929332251792E-5	0.0
18	14828314	C	G	18	14828315	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.77457243820827E-5	0.0
18	14828314	C	T	18	14828315	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.77457243820827E-5	0.0
18	14828315	T	A	18	14828316	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.25168960799101E-4	0.032
18	14828315	T	C	18	14828316	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.25168960799101E-4	0.034
18	14828315	T	G	18	14828316	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67373923200246E-4	0.06
18	14831370	T	A	18	14831371	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.91240671872488E-4	0.134
18	14831370	T	C	18	14831371	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.09761021532703E-4	0.022
18	14831370	T	G	18	14831371	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.40044958221468E-4	0.132
18	14831371	T	A	18	14831372	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.14054572391767E-4	0.196
18	14831371	T	C	18	14831372	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.81807429812979E-4	0.024
18	14831371	T	G	18	14831372	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.14437735971003E-4	0.16
18	14831372	T	A	18	14831373	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.85169194754398E-4	0.024
18	14831372	T	C	18	14831373	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.68015313849444E-5	0.066
18	14831372	T	G	18	14831373	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.37941626667559E-4	0.078
18	14831373	T	A	18	14831374	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.53365337463596E-4	0.034
18	14831373	T	C	18	14831374	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.9595749867291E-5	0.0
18	14831373	T	G	18	14831374	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.79374275634305E-4	0.072
18	14831374	T	A	18	14831375	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.48782938999912E-4	0.028
18	14831374	T	C	18	14831375	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.723046669556E-5	0.0
18	14831374	T	G	18	14831375	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.85067793861969E-5	0.016
18	14831375	T	A	18	14831376	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.33763883141177E-5	0.004
18	14831375	T	C	18	14831376	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.9547121941434E-5	0.0
18	14831375	T	G	18	14831376	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.57472760982216E-5	0.008
18	14831376	C	A	18	14831377	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.43105648998276E-4	0.076
18	14831376	C	G	18	14831377	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.49298306085113E-4	0.108
18	14831376	C	T	18	14831377	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.74115527812124E-5	0.006
18	14831377	T	A	18	14831378	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.72566939374699E-4	0.034
18	14831377	T	C	18	14831378	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.03764201939624E-5	0.0
18	14831377	T	G	18	14831378	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.78714795593333E-4	0.108
18	14831378	C	A	18	14831379	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.24803911318295E-5	0.0
18	14831378	C	G	18	14831379	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.34707568932849E-6	0.004
18	14831378	C	T	18	14831379	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.20337366021435E-5	0.0
18	14831379	T	A	18	14831380	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.680519108577486	0.294
18	14831379	T	C	18	14831380	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.28262482670605E-4	0.034
18	14831379	T	G	18	14831380	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999588918163973	0.706
18	14831380	A	C	18	14831381	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2418-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2418-2A>C)	.	.	0.999973093631733	0.772
18	14831380	A	G	18	14831381	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2418-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2418-2A>G)	.	.	0.999973093631733	0.772
18	14831380	A	T	18	14831381	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2418-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2418-2A>T)	.	.	0.999973093631733	0.768
18	14831381	G	A	18	14831382	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2418-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2418-1G>A)	.	.	0.999992766013185	0.768
18	14831381	G	C	18	14831382	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2418-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2418-1G>C)	.	.	0.999992766013185	0.766
18	14831381	G	T	18	14831382	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2418-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2418-1G>T)	.	.	0.999992766013185	0.768
18	14831382	T	A	18	14831383	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.T2418A:p.S806R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.T2418A:p.S806R;	1.55504237269791E-5	0.006
18	14831382	T	C	18	14831383	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon28:c.T2418C:p.S806S;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.T2418C:p.S806S;	2.67501692944439E-5	0.02
18	14831382	T	G	18	14831383	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.T2418G:p.S806R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.T2418G:p.S806R;	1.64454533193858E-4	0.108
18	14831383	C	A	18	14831384	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.C2419A:p.L807I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.C2419A:p.L807I;	1.26476834569958E-5	0.002
18	14831383	C	G	18	14831384	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.C2419G:p.L807V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.C2419G:p.L807V;	6.93165748852665E-5	0.002
18	14831383	C	T	18	14831384	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.C2419T:p.L807F;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.C2419T:p.L807F;	6.308243164566E-5	0.006
18	14831452	A	C	18	14831453	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.A2488C:p.K830Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.A2488C:p.K830Q;	3.94187322240781E-4	0.0
18	14831452	A	G	18	14831453	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.A2488G:p.K830E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.A2488G:p.K830E;	2.22180282240119E-4	0.014
18	14831452	A	T	18	14831453	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon28:c.A2488T:p.K830X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon28:c.A2488T:p.K830X;	0.869964991359982	0.71
18	14831453	A	C	18	14831454	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.A2489C:p.K830T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.A2489C:p.K830T;	0.720138182909804	0.516
18	14831453	A	G	18	14831454	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.A2489G:p.K830R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.A2489G:p.K830R;	0.993652971257479	0.69
18	14831453	A	T	18	14831454	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.A2489T:p.K830M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.A2489T:p.K830M;	0.987573944982258	0.68
18	14831454	G	A	18	14831455	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon28:c.G2490A:p.K830K;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.G2490A:p.K830K;	0.999976399667929	0.934
18	14831454	G	C	18	14831455	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.G2490C:p.K830N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.G2490C:p.K830N;	0.999997899517536	0.996
18	14831454	G	T	18	14831455	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon28:c.G2490T:p.K830N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon28:c.G2490T:p.K830N;	0.999991533004832	0.978
18	14831455	G	A	18	14831456	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2490+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2490+1G>A)	.	.	0.999982032508229	0.746
18	14831455	G	C	18	14831456	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2490+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2490+1G>C)	.	.	0.999982032508229	0.748
18	14831455	G	T	18	14831456	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2490+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2490+1G>T)	.	.	0.999982032508229	0.748
18	14831456	T	A	18	14831457	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2490+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2490+2T>A)	.	.	0.999973093631733	0.75
18	14831456	T	C	18	14831457	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2490+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2490+2T>C)	.	.	0.963440341691688	0.48
18	14831456	T	G	18	14831457	y	y	splicing	ANKRD30B(NM_001145029:exon28:c.2490+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon28:c.2490+2T>G)	.	.	0.999973093631733	0.746
18	14831457	A	C	18	14831458	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999622949397483	0.748
18	14831457	A	G	18	14831458	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.668903702981626	0.522
18	14831457	A	T	18	14831458	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998593649862333	0.712
18	14831458	A	C	18	14831459	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.41093594004099	0.362
18	14831458	A	G	18	14831459	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.607832249472872	0.496
18	14831458	A	T	18	14831459	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.573233235368203	0.494
18	14831459	A	C	18	14831460	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.38018579832118E-5	0.02
18	14831459	A	G	18	14831460	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.71311139323355E-4	0.086
18	14831459	A	T	18	14831460	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.0421650785733E-5	0.026
18	14831460	A	C	18	14831461	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.21819580915858E-5	0.048
18	14831460	A	G	18	14831461	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.96379779074231E-5	0.018
18	14831460	A	T	18	14831461	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.41662483120326E-5	0.01
18	14831461	T	A	18	14831462	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.26051158238165E-5	0.016
18	14831461	T	C	18	14831462	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.96105841581473E-5	0.01
18	14831461	T	G	18	14831462	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.25835791402552E-5	0.008
18	14831462	A	C	18	14831463	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.004588044287E-4	0.022
18	14831462	A	G	18	14831463	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.81104709051921E-5	0.02
18	14831462	A	T	18	14831463	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.10426212606079E-4	0.0
18	14837198	T	A	18	14837199	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99987232851943	0.96
18	14837198	T	C	18	14837199	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.387061197214E-4	0.086
18	14837198	T	G	18	14837199	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.295236283148169	0.432
18	14837199	G	A	18	14837200	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1611091503807E-4	0.062
18	14837199	G	C	18	14837200	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.12388451737589E-5	0.002
18	14837199	G	T	18	14837200	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.84034416562832E-5	0.078
18	14837200	T	A	18	14837201	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.044665724570827	0.286
18	14837200	T	C	18	14837201	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.32961236025672E-4	0.026
18	14837200	T	G	18	14837201	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0364035016265945	0.3
18	14837201	T	A	18	14837202	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0544021531992521	0.246
18	14837201	T	C	18	14837202	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.54888349634455E-4	0.0
18	14837201	T	G	18	14837202	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0137073622506653	0.214
18	14837202	T	A	18	14837203	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999781270355314	0.96
18	14837202	T	C	18	14837203	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.37804088328129E-5	0.002
18	14837202	T	G	18	14837203	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00482904565123318	0.184
18	14837203	G	A	18	14837204	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67190388673652E-5	0.004
18	14837203	G	C	18	14837204	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.10181018511742E-5	0.006
18	14837203	G	T	18	14837204	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.9461488484767E-6	0.006
18	14837204	T	A	18	14837205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0250110367332865	0.392
18	14837204	T	C	18	14837205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.20248904448108E-5	0.016
18	14837204	T	G	18	14837205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0533488672246188	0.446
18	14837205	A	C	18	14837206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.87854692296767E-5	0.0
18	14837205	A	G	18	14837206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.77387927441882E-4	0.002
18	14837205	A	T	18	14837206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.92538816955013E-5	0.032
18	14837206	A	C	18	14837207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.15046845617241E-4	0.0
18	14837206	A	G	18	14837207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.968015294903065	0.808
18	14837206	A	T	18	14837207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67107574764635E-4	0.002
18	14837207	T	A	18	14837208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.135388287903287	0.304
18	14837207	T	C	18	14837208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.96451607361201E-4	0.042
18	14837207	T	G	18	14837208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99947142175476	0.744
18	14837208	A	C	18	14837209	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2491-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2491-2A>C)	.	.	0.99996947969426	0.75
18	14837208	A	G	18	14837209	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2491-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2491-2A>G)	.	.	0.99996947969426	0.75
18	14837208	A	T	18	14837209	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2491-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2491-2A>T)	.	.	0.99996947969426	0.746
18	14837209	G	A	18	14837210	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2491-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2491-1G>A)	.	.	0.99998651018852	0.748
18	14837209	G	C	18	14837210	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2491-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2491-1G>C)	.	.	0.99998651018852	0.746
18	14837209	G	T	18	14837210	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2491-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2491-1G>T)	.	.	0.99998651018852	0.746
18	14837210	G	A	18	14837211	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.G2491A:p.E831K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.G2491A:p.E831K;	0.0141621564504171	0.218
18	14837210	G	C	18	14837211	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.G2491C:p.E831Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.G2491C:p.E831Q;	0.749671787577616	0.506
18	14837210	G	T	18	14837211	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon29:c.G2491T:p.E831X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon29:c.G2491T:p.E831X;	0.999586675569059	0.946
18	14837211	A	C	18	14837212	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2492C:p.E831A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2492C:p.E831A;	6.66155883558872E-5	0.018
18	14837211	A	G	18	14837212	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2492G:p.E831G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2492G:p.E831G;	1.63598877848333E-4	0.02
18	14837211	A	T	18	14837212	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2492T:p.E831V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2492T:p.E831V;	2.93950588311454E-4	0.006
18	14837286	C	A	18	14837287	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.C2567A:p.T856K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.C2567A:p.T856K;	0.00247226268269776	0.156
18	14837286	C	G	18	14837287	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.C2567G:p.T856R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.C2567G:p.T856R;	0.0244507340295326	0.114
18	14837286	C	T	18	14837287	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.C2567T:p.T856I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.C2567T:p.T856I;	0.960823366128539	0.64
18	14837287	A	C	18	14837288	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2568C:p.T856T;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2568C:p.T856T;	0.998234253319209	0.866
18	14837287	A	G	18	14837288	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2568G:p.T856T;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2568G:p.T856T;	0.997831521540158	0.844
18	14837287	A	T	18	14837288	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2568T:p.T856T;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2568T:p.T856T;	0.997577691133276	0.876
18	14837288	A	C	18	14837289	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2569C:p.N857H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2569C:p.N857H;	7.66118134119283E-5	0.028
18	14837288	A	G	18	14837289	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2569G:p.N857D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2569G:p.N857D;	2.74143398902613E-4	0.092
18	14837288	A	T	18	14837289	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon29:c.A2569T:p.N857Y;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon29:c.A2569T:p.N857Y;	0.0159276130154365	0.076
18	14837289	G	A	18	14837290	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2569+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2569+1G>A)	.	.	0.984592851830086	0.306
18	14837289	G	C	18	14837290	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2569+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2569+1G>C)	.	.	0.984592851830086	0.296
18	14837289	G	T	18	14837290	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2569+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2569+1G>T)	.	.	0.984592851830086	0.296
18	14837290	T	A	18	14837291	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2569+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2569+2T>A)	.	.	0.999918350337376	0.784
18	14837290	T	C	18	14837291	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2569+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2569+2T>C)	.	.	0.984666729047076	0.564
18	14837290	T	G	18	14837291	y	y	splicing	ANKRD30B(NM_001145029:exon29:c.2569+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon29:c.2569+2T>G)	.	.	0.999918350337376	0.77
18	14837291	A	C	18	14837292	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998464306697554	0.714
18	14837291	A	G	18	14837292	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.980741850297556	0.61
18	14837291	A	T	18	14837292	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998472193404557	0.72
18	14837292	A	C	18	14837293	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999260920708556	0.792
18	14837292	A	G	18	14837293	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999585769261859	0.796
18	14837292	A	T	18	14837293	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999585769261859	0.784
18	14837293	T	A	18	14837294	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.25820123466766E-4	0.012
18	14837293	T	C	18	14837294	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.31448445260292E-4	0.04
18	14837293	T	G	18	14837294	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.07743356468019E-4	0.09
18	14837294	G	A	18	14837295	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.38161410169437E-4	0.026
18	14837294	G	C	18	14837295	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0102607256864964	0.09
18	14837294	G	T	18	14837295	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.96402962261851E-5	0.048
18	14837295	A	C	18	14837296	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.74948499108875E-5	0.004
18	14837295	A	G	18	14837296	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.68271246761597E-5	0.0
18	14837295	A	T	18	14837296	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.74948499108875E-5	0.002
18	14837296	C	A	18	14837297	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.16580142964137E-4	0.008
18	14837296	C	G	18	14837297	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.96225327552257E-5	0.0
18	14837296	C	T	18	14837297	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.41981780235841E-5	0.002
18	14837602	A	C	18	14837603	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.37977426630093E-5	0.0
18	14837602	A	G	18	14837603	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34880866912523E-4	0.076
18	14837602	A	T	18	14837603	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.60459730236493E-5	0.016
18	14837603	A	C	18	14837604	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67944982512943E-5	0.0
18	14837603	A	G	18	14837604	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.444355912352511	0.348
18	14837603	A	T	18	14837604	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.44362172635607E-5	0.02
18	14837604	C	A	18	14837605	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.17944278324129E-4	0.174
18	14837604	C	G	18	14837605	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999898399239285	0.95
18	14837604	C	T	18	14837605	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.27478765991791E-5	0.008
18	14837605	A	C	18	14837606	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.39979756837452E-5	0.002
18	14837605	A	G	18	14837606	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.13115655814033E-5	0.006
18	14837605	A	T	18	14837606	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.29476162864081E-5	0.018
18	14837606	T	A	18	14837607	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0727159974116881	0.344
18	14837606	T	C	18	14837607	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.0910472089143E-4	0.074
18	14837606	T	G	18	14837607	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999850123828175	0.966
18	14837607	T	A	18	14837608	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00210707248617392	0.178
18	14837607	T	C	18	14837608	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.18975894056811E-5	0.018
18	14837607	T	G	18	14837608	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00857363440977613	0.26
18	14837608	T	A	18	14837609	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.760005907180351	0.648
18	14837608	T	C	18	14837609	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.71757105777234E-4	0.008
18	14837608	T	G	18	14837609	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.671354061856216	0.592
18	14837609	T	A	18	14837610	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999926723938468	0.928
18	14837609	T	C	18	14837610	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.30875042126244E-4	0.062
18	14837609	T	G	18	14837610	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.979533989509118	0.656
18	14837610	G	A	18	14837611	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.66622534898824E-5	0.002
18	14837610	G	C	18	14837611	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.73587852854014E-5	0.0
18	14837610	G	T	18	14837611	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.91658689567408E-5	0.006
18	14837611	T	A	18	14837612	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0849683919855105	0.338
18	14837611	T	C	18	14837612	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.36532859688161E-5	0.044
18	14837611	T	G	18	14837612	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.939687977840777	0.608
18	14837612	A	C	18	14837613	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2570-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2570-2A>C)	.	.	0.999933297680006	0.766
18	14837612	A	G	18	14837613	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2570-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2570-2A>G)	.	.	0.999933297680006	0.766
18	14837612	A	T	18	14837613	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2570-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2570-2A>T)	.	.	0.999933297680006	0.78
18	14837613	G	A	18	14837614	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2570-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2570-1G>A)	.	.	0.999960731349428	0.764
18	14837613	G	C	18	14837614	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2570-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2570-1G>C)	.	.	0.999960731349428	0.758
18	14837613	G	T	18	14837614	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2570-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2570-1G>T)	.	.	0.999960731349428	0.764
18	14837614	A	C	18	14837615	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.A2570C:p.N857T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.A2570C:p.N857T;	0.00300124609617	0.144
18	14837614	A	G	18	14837615	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.A2570G:p.N857S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.A2570G:p.N857S;	9.35447736857505E-5	0.1
18	14837614	A	T	18	14837615	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.A2570T:p.N857I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.A2570T:p.N857I;	0.0514176705469611	0.138
18	14837615	T	A	18	14837616	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.T2571A:p.N857K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.T2571A:p.N857K;	7.46247744673375E-5	0.048
18	14837615	T	C	18	14837616	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon30:c.T2571C:p.N857N;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.T2571C:p.N857N;	3.33545049225218E-4	0.114
18	14837615	T	G	18	14837616	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.T2571G:p.N857K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.T2571G:p.N857K;	7.21495821743383E-4	0.092
18	14837673	G	A	18	14837674	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.G2629A:p.E877K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.G2629A:p.E877K;	2.00497297137812E-4	0.004
18	14837673	G	C	18	14837674	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.G2629C:p.E877Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.G2629C:p.E877Q;	1.10318649524824E-4	0.004
18	14837673	G	T	18	14837674	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon30:c.G2629T:p.E877X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon30:c.G2629T:p.E877X;	0.745870975346978	0.528
18	14837674	A	C	18	14837675	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.A2630C:p.E877A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.A2630C:p.E877A;	0.998430127036943	0.882
18	14837674	A	G	18	14837675	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.A2630G:p.E877G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.A2630G:p.E877G;	0.99928297102324	0.952
18	14837674	A	T	18	14837675	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.A2630T:p.E877V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.A2630T:p.E877V;	0.999625624231978	0.976
18	14837675	G	A	18	14837676	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon30:c.G2631A:p.E877E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.G2631A:p.E877E;	0.999982458109392	0.946
18	14837675	G	C	18	14837676	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.G2631C:p.E877D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.G2631C:p.E877D;	0.999994220178897	0.984
18	14837675	G	T	18	14837676	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon30:c.G2631T:p.E877D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon30:c.G2631T:p.E877D;	0.999988833956857	0.958
18	14837676	G	A	18	14837677	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2631+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2631+1G>A)	.	.	0.999982032508229	0.694
18	14837676	G	C	18	14837677	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2631+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2631+1G>C)	.	.	0.999982032508229	0.694
18	14837676	G	T	18	14837677	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2631+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2631+1G>T)	.	.	0.999982032508229	0.694
18	14837677	T	A	18	14837678	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2631+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2631+2T>A)	.	.	0.99996947969426	0.68
18	14837677	T	C	18	14837678	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2631+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2631+2T>C)	.	.	0.72803792982027	0.462
18	14837677	T	G	18	14837678	y	y	splicing	ANKRD30B(NM_001145029:exon30:c.2631+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon30:c.2631+2T>G)	.	.	0.99996947969426	0.686
18	14837678	A	C	18	14837679	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999874034163782	0.788
18	14837678	A	G	18	14837679	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.993528959505821	0.758
18	14837678	A	T	18	14837679	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999874034163782	0.83
18	14837679	C	A	18	14837680	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.12495290261631E-4	0.128
18	14837679	C	G	18	14837680	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0170615757461018	0.188
18	14837679	C	T	18	14837680	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.84869030255452E-4	0.03
18	14837680	T	A	18	14837681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.10543923947233E-5	0.016
18	14837680	T	C	18	14837681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.56198333086878E-5	0.0
18	14837680	T	G	18	14837681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.39397486499147E-4	0.08
18	14837681	G	A	18	14837682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.21203680651355E-4	0.126
18	14837681	G	C	18	14837682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.39480487088867E-4	0.094
18	14837681	G	T	18	14837682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.55402591183045E-5	0.04
18	14837682	T	A	18	14837683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.95150785198375E-5	0.03
18	14837682	T	C	18	14837683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.1279112637937E-5	0.01
18	14837682	T	G	18	14837683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.1279112637937E-5	0.01
18	14837683	G	A	18	14837684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1537707380253E-4	0.032
18	14837683	G	C	18	14837684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.91964045955667E-5	0.04
18	14837683	G	T	18	14837684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.1537707380253E-4	0.032
18	14840575	T	A	18	14840576	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.414913714905496	0.49
18	14840575	T	C	18	14840576	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.54525936700069E-4	0.038
18	14840575	T	G	18	14840576	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00653527532066581	0.412
18	14840576	A	C	18	14840577	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.265824141136E-5	0.002
18	14840576	A	G	18	14840577	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.70623162193883E-6	0.006
18	14840576	A	T	18	14840577	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.41042284906754E-5	0.166
18	14840577	T	A	18	14840578	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0226277443302415	0.158
18	14840577	T	C	18	14840578	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.73964390709999E-4	0.05
18	14840577	T	G	18	14840578	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.985253693581493	0.768
18	14840578	C	A	18	14840579	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.59069515688584E-4	0.19
18	14840578	C	G	18	14840579	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.46548257002279E-4	0.1
18	14840578	C	T	18	14840579	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.5514959365958E-6	0.016
18	14840579	T	A	18	14840580	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.128162766053101	0.332
18	14840579	T	C	18	14840580	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.96422034564367E-5	0.022
18	14840579	T	G	18	14840580	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0380487086012897	0.338
18	14840580	T	A	18	14840581	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0894376381000721	0.26
18	14840580	T	C	18	14840581	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.6975536947893E-5	0.062
18	14840580	T	G	18	14840581	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0419042406551363	0.316
18	14840581	T	A	18	14840582	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0536272849510434	0.41
18	14840581	T	C	18	14840582	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.39043777589088E-5	0.052
18	14840581	T	G	18	14840582	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0711885074202535	0.442
18	14840582	A	C	18	14840583	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.32186368474212E-5	0.0
18	14840582	A	G	18	14840583	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.26412252493421E-5	0.004
18	14840582	A	T	18	14840583	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.32186368474212E-5	0.002
18	14840583	A	C	18	14840584	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00100246905054559	0.26
18	14840583	A	G	18	14840584	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.988093102344856	0.762
18	14840583	A	T	18	14840584	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.30122460428198E-5	0.016
18	14840584	C	A	18	14840585	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.97764339563696	0.782
18	14840584	C	G	18	14840585	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999098573968631	0.818
18	14840584	C	T	18	14840585	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00616580339756383	0.26
18	14840585	A	C	18	14840586	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2632-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2632-2A>C)	.	.	0.999948847672074	0.664
18	14840585	A	G	18	14840586	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2632-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2632-2A>G)	.	.	0.999948847672074	0.664
18	14840585	A	T	18	14840586	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2632-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2632-2A>T)	.	.	0.999948847672074	0.68
18	14840586	G	A	18	14840587	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2632-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2632-1G>A)	.	.	0.999957131258573	0.674
18	14840586	G	C	18	14840587	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2632-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2632-1G>C)	.	.	0.999957131258573	0.664
18	14840586	G	T	18	14840587	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2632-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2632-1G>T)	.	.	0.999957131258573	0.668
18	14840587	A	C	18	14840588	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2632C:p.I878L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2632C:p.I878L;	5.50506966739649E-4	0.06
18	14840587	A	G	18	14840588	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2632G:p.I878V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2632G:p.I878V;	4.83226550602549E-5	0.028
18	14840587	A	T	18	14840588	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2632T:p.I878F;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2632T:p.I878F;	2.21041912137464E-4	0.024
18	14840588	T	A	18	14840589	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.T2633A:p.I878N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.T2633A:p.I878N;	2.15656827126604E-4	0.034
18	14840588	T	C	18	14840589	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.T2633C:p.I878T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.T2633C:p.I878T;	1.54213766348743E-4	0.018
18	14840588	T	G	18	14840589	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.T2633G:p.I878S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.T2633G:p.I878S;	1.30863651852337E-4	0.026
18	14840675	A	C	18	14840676	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2720C:p.E907A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2720C:p.E907A;	8.85327710171727E-5	0.0
18	14840675	A	G	18	14840676	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2720G:p.E907G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2720G:p.E907G;	5.61484947643606E-4	0.012
18	14840675	A	T	18	14840676	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2720T:p.E907V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2720T:p.E907V;	0.00177307000341642	0.168
18	14840676	A	C	18	14840677	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2721C:p.E907D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2721C:p.E907D;	0.0605593551772766	0.474
18	14840676	A	G	18	14840677	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2721G:p.E907E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2721G:p.E907E;	0.0191807142153837	0.208
18	14840676	A	T	18	14840677	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.A2721T:p.E907D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.A2721T:p.E907D;	0.038660718440895	0.352
18	14840677	G	A	18	14840678	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.G2722A:p.E908K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.G2722A:p.E908K;	0.991975758890106	0.94
18	14840677	G	C	18	14840678	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon31:c.G2722C:p.E908Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon31:c.G2722C:p.E908Q;	0.99523670573364	0.728
18	14840677	G	T	18	14840678	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon31:c.G2722T:p.E908X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon31:c.G2722T:p.E908X;	0.999761306436531	0.962
18	14840678	G	A	18	14840679	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2722+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2722+1G>A)	.	.	0.999957131258573	0.748
18	14840678	G	C	18	14840679	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2722+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2722+1G>C)	.	.	0.999957131258573	0.75
18	14840678	G	T	18	14840679	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2722+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2722+1G>T)	.	.	0.999957131258573	0.748
18	14840679	T	A	18	14840680	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2722+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2722+2T>A)	.	.	0.999948847672074	0.754
18	14840679	T	C	18	14840680	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2722+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2722+2T>C)	.	.	0.930410564606307	0.486
18	14840679	T	G	18	14840680	y	y	splicing	ANKRD30B(NM_001145029:exon31:c.2722+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon31:c.2722+2T>G)	.	.	0.999948847672074	0.75
18	14840680	A	C	18	14840681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.830693628016812	0.65
18	14840680	A	G	18	14840681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0059930319864617	0.206
18	14840680	A	T	18	14840681	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.917828657601015	0.618
18	14840681	A	C	18	14840682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0434345758915608	0.408
18	14840681	A	G	18	14840682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.074411056744248	0.45
18	14840681	A	T	18	14840682	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0459808591919882	0.412
18	14840682	G	A	18	14840683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.356083534657507	0.388
18	14840682	G	C	18	14840683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0987433191586342	0.372
18	14840682	G	T	18	14840683	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.259603208827093	0.348
18	14840683	A	C	18	14840684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.6929216244763E-5	0.042
18	14840683	A	G	18	14840684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.34111905030817E-5	0.01
18	14840683	A	T	18	14840684	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.73098493901484E-5	0.014
18	14840684	A	C	18	14840685	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.61811511581955E-5	0.002
18	14840684	A	G	18	14840685	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.61811511581955E-5	0.002
18	14840684	A	T	18	14840685	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.30918200647299E-5	0.002
18	14840685	C	A	18	14840686	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.15928931281605E-5	0.02
18	14840685	C	G	18	14840686	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.15928931281605E-5	0.028
18	14840685	C	T	18	14840686	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.33532662140162E-5	0.022
18	14842884	T	A	18	14842885	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.33485143461438E-4	0.022
18	14842884	T	C	18	14842885	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.94755928660964E-5	0.0
18	14842884	T	G	18	14842885	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.24805252294891E-4	0.072
18	14842885	T	A	18	14842886	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0084223195023796	0.306
18	14842885	T	C	18	14842886	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00245325339571573	0.108
18	14842885	T	G	18	14842886	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00200066985553097	0.278
18	14842886	T	A	18	14842887	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999930881416202	0.976
18	14842886	T	C	18	14842887	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.73752125548238E-5	0.01
18	14842886	T	G	18	14842887	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.56118408009426E-4	0.084
18	14842887	G	A	18	14842888	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.06163199717473E-5	0.002
18	14842887	G	C	18	14842888	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.64848925303205E-6	0.006
18	14842887	G	T	18	14842888	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.03572494468961E-6	0.018
18	14842888	C	A	18	14842889	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.50671029727896E-4	0.076
18	14842888	C	G	18	14842889	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.42689452625237E-4	0.074
18	14842888	C	T	18	14842889	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.12255339851667E-4	0.028
18	14842889	T	A	18	14842890	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.55371100899246E-5	0.042
18	14842889	T	C	18	14842890	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.34705532376211E-5	0.014
18	14842889	T	G	18	14842890	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.309425979761E-5	0.042
18	14842890	T	A	18	14842891	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.15356019702671E-4	0.14
18	14842890	T	C	18	14842891	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.62783874703346E-5	0.036
18	14842890	T	G	18	14842891	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00106416348229803	0.176
18	14842891	T	A	18	14842892	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0184422875770734	0.306
18	14842891	T	C	18	14842892	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.92060214968203E-4	0.038
18	14842891	T	G	18	14842892	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0783379921940144	0.352
18	14842892	T	A	18	14842893	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.75932527895789E-5	0.084
18	14842892	T	C	18	14842893	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.7809543859059E-5	0.006
18	14842892	T	G	18	14842893	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.35672675693665E-5	0.002
18	14842893	T	A	18	14842894	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.026424554570696	0.258
18	14842893	T	C	18	14842894	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.51125184842785E-4	0.066
18	14842893	T	G	18	14842894	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998357208085036	0.668
18	14842894	A	C	18	14842895	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2723-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2723-2A>C)	.	.	0.99996947969426	0.674
18	14842894	A	G	18	14842895	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2723-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2723-2A>G)	.	.	0.99996947969426	0.674
18	14842894	A	T	18	14842895	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2723-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2723-2A>T)	.	.	0.99996947969426	0.67
18	14842895	G	A	18	14842896	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2723-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2723-1G>A)	.	.	0.999979011229673	0.684
18	14842895	G	C	18	14842896	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2723-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2723-1G>C)	.	.	0.999979011229673	0.682
18	14842895	G	T	18	14842896	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2723-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2723-1G>T)	.	.	0.999979011229673	0.684
18	14842896	A	C	18	14842897	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.A2723C:p.E908A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.A2723C:p.E908A;	1.5641950440359E-4	0.018
18	14842896	A	G	18	14842897	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.A2723G:p.E908G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.A2723G:p.E908G;	4.33690991627279E-5	0.01
18	14842896	A	T	18	14842897	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.A2723T:p.E908V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.A2723T:p.E908V;	6.32194300146798E-5	0.012
18	14842897	G	A	18	14842898	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon32:c.G2724A:p.E908E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.G2724A:p.E908E;	2.06699015942409E-5	0.0
18	14842897	G	C	18	14842898	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.G2724C:p.E908D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.G2724C:p.E908D;	1.24717240503077E-4	0.022
18	14842897	G	T	18	14842898	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.G2724T:p.E908D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.G2724T:p.E908D;	7.13392405125255E-5	0.002
18	14842922	G	A	18	14842923	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.G2749A:p.E917K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.G2749A:p.E917K;	5.70364477220127E-5	0.0
18	14842922	G	C	18	14842923	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.G2749C:p.E917Q;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.G2749C:p.E917Q;	6.02811548706873E-5	0.0
18	14842922	G	T	18	14842923	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon32:c.G2749T:p.E917X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon32:c.G2749T:p.E917X;	0.00824174504778603	0.44
18	14842923	A	C	18	14842924	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.A2750C:p.E917A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.A2750C:p.E917A;	0.992784740090657	0.856
18	14842923	A	G	18	14842924	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.A2750G:p.E917G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.A2750G:p.E917G;	0.997578138314629	0.944
18	14842923	A	T	18	14842924	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.A2750T:p.E917V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.A2750T:p.E917V;	0.999723373280442	0.954
18	14842924	G	A	18	14842925	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon32:c.G2751A:p.E917E;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.G2751A:p.E917E;	0.999980627043086	0.898
18	14842924	G	C	18	14842925	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.G2751C:p.E917D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.G2751C:p.E917D;	0.999985144962434	0.996
18	14842924	G	T	18	14842925	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon32:c.G2751T:p.E917D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon32:c.G2751T:p.E917D;	0.999984357726839	0.954
18	14842925	G	A	18	14842926	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2751+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2751+1G>A)	.	.	0.999943949947787	0.69
18	14842925	G	C	18	14842926	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2751+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2751+1G>C)	.	.	0.999943949947787	0.706
18	14842925	G	T	18	14842926	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2751+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2751+1G>T)	.	.	0.999943949947787	0.7
18	14842926	T	A	18	14842927	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2751+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2751+2T>A)	.	.	0.999933297680006	0.684
18	14842926	T	C	18	14842927	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2751+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2751+2T>C)	.	.	0.558394157883894	0.478
18	14842926	T	G	18	14842927	y	y	splicing	ANKRD30B(NM_001145029:exon32:c.2751+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon32:c.2751+2T>G)	.	.	0.999933297680006	0.68
18	14842927	A	C	18	14842928	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.994564865722694	0.522
18	14842927	A	G	18	14842928	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.954948313374085	0.574
18	14842927	A	T	18	14842928	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.996459702650358	0.534
18	14842928	T	A	18	14842929	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.39375257112014E-5	0.008
18	14842928	T	C	18	14842929	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.02914564165703E-5	0.016
18	14842928	T	G	18	14842929	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.30690704501111E-4	0.156
18	14842929	T	A	18	14842930	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.0662339366349E-5	0.01
18	14842929	T	C	18	14842930	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.95522669772954E-5	0.006
18	14842929	T	G	18	14842930	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.57591262985421E-4	0.128
18	14842930	G	A	18	14842931	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.45089341972587E-5	0.0
18	14842930	G	C	18	14842931	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.41896528515819E-5	0.012
18	14842930	G	T	18	14842931	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.64428299486498E-6	0.018
18	14842931	A	C	18	14842932	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.08055601131472E-5	0.004
18	14842931	A	G	18	14842932	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.73854925618468E-5	0.004
18	14842931	A	T	18	14842932	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.48258465148196E-5	0.008
18	14842932	G	A	18	14842933	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.50257244079442E-4	0.006
18	14842932	G	C	18	14842933	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.3092164664071E-5	0.002
18	14842932	G	T	18	14842933	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.50466432632633E-5	0.008
18	14843011	A	C	18	14843012	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.18778568339885E-4	0.012
18	14843011	A	G	18	14843012	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.1398111823598E-4	0.05
18	14843011	A	T	18	14843012	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.73109429853221E-4	0.108
18	14843012	A	C	18	14843013	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67944982512943E-5	0.002
18	14843012	A	G	18	14843013	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.532344725863828	0.802
18	14843012	A	T	18	14843013	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.22771230960875E-5	0.054
18	14843013	A	C	18	14843014	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.47254085554397E-5	0.014
18	14843013	A	G	18	14843014	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.9980704788163	0.976
18	14843013	A	T	18	14843014	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.61966415796203E-5	0.142
18	14843014	C	A	18	14843015	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.48204672984746E-4	0.138
18	14843014	C	G	18	14843015	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.987672261036662	0.956
18	14843014	C	T	18	14843015	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.50451145010063E-6	0.006
18	14843015	C	A	18	14843016	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0032193580579496	0.174
18	14843015	C	G	18	14843016	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.12660891177951E-4	0.126
18	14843015	C	T	18	14843016	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.72010171546695E-6	0.01
18	14843016	C	A	18	14843017	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.892974017714213	0.94
18	14843016	C	G	18	14843017	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.09441774585888E-4	0.126
18	14843016	C	T	18	14843017	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.60433886793066E-5	0.002
18	14843017	G	A	18	14843018	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.92395228729822E-5	0.046
18	14843017	G	C	18	14843018	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.21662742923696E-5	0.018
18	14843017	G	T	18	14843018	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.29247962333227E-5	0.006
18	14843018	T	A	18	14843019	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.952148476310304	0.726
18	14843018	T	C	18	14843019	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0429704072208126	0.248
18	14843018	T	G	18	14843019	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.936632858467174	0.716
18	14843019	T	A	18	14843020	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.23284305031692E-5	0.008
18	14843019	T	C	18	14843020	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.90620462208861E-5	0.024
18	14843019	T	G	18	14843020	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.61857436509405E-5	0.026
18	14843020	T	A	18	14843021	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0139069785484089	0.274
18	14843020	T	C	18	14843021	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.83099259102248E-5	0.004
18	14843020	T	G	18	14843021	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.176543271581303	0.524
18	14843021	A	C	18	14843022	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2752-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2752-2A>C)	.	.	0.999619755915597	0.768
18	14843021	A	G	18	14843022	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2752-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2752-2A>G)	.	.	0.999619755915597	0.768
18	14843021	A	T	18	14843022	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2752-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2752-2A>T)	.	.	0.999619755915597	0.764
18	14843022	G	A	18	14843023	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2752-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2752-1G>A)	.	.	0.99973847812638	0.762
18	14843022	G	C	18	14843023	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2752-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2752-1G>C)	.	.	0.99973847812638	0.756
18	14843022	G	T	18	14843023	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2752-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2752-1G>T)	.	.	0.99973847812638	0.756
18	14843023	C	A	18	14843024	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2752A:p.P918T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2752A:p.P918T;	7.59723120688188E-5	0.012
18	14843023	C	G	18	14843024	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2752G:p.P918A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2752G:p.P918A;	0.0016281626854884	0.156
18	14843023	C	T	18	14843024	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2752T:p.P918S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2752T:p.P918S;	3.70526793368987E-4	0.254
18	14843024	C	A	18	14843025	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2753A:p.P918H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2753A:p.P918H;	4.03674555535355E-5	0.02
18	14843024	C	G	18	14843025	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2753G:p.P918R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2753G:p.P918R;	1.6405179674186E-5	0.02
18	14843024	C	T	18	14843025	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2753T:p.P918L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2753T:p.P918L;	3.45266185816806E-5	0.068
18	14843093	C	A	18	14843094	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2822A:p.A941E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2822A:p.A941E;	0.00177163150166353	0.058
18	14843093	C	G	18	14843094	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2822G:p.A941G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2822G:p.A941G;	4.20252348148333E-4	0.024
18	14843093	C	T	18	14843094	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.C2822T:p.A941V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.C2822T:p.A941V;	0.331924162147127	0.44
18	14843094	A	C	18	14843095	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon33:c.A2823C:p.A941A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.A2823C:p.A941A;	0.337952254525804	0.628
18	14843094	A	G	18	14843095	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon33:c.A2823G:p.A941A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.A2823G:p.A941A;	0.723851581459695	0.598
18	14843094	A	T	18	14843095	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon33:c.A2823T:p.A941A;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.A2823T:p.A941A;	0.924044689327924	0.658
18	14843095	G	A	18	14843096	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.G2824A:p.D942N;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.G2824A:p.D942N;	0.999811702793539	0.978
18	14843095	G	C	18	14843096	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.G2824C:p.D942H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.G2824C:p.D942H;	0.999990469586594	0.976
18	14843095	G	T	18	14843096	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon33:c.G2824T:p.D942Y;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon33:c.G2824T:p.D942Y;	0.999351276440578	0.922
18	14843096	G	A	18	14843097	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2824+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2824+1G>A)	.	.	0.999974353892859	0.736
18	14843096	G	C	18	14843097	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2824+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2824+1G>C)	.	.	0.999974353892859	0.73
18	14843096	G	T	18	14843097	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2824+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2824+1G>T)	.	.	0.999974353892859	0.73
18	14843097	T	A	18	14843098	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2824+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2824+2T>A)	.	.	0.99996947969426	0.75
18	14843097	T	C	18	14843098	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2824+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2824+2T>C)	.	.	0.885968535044706	0.512
18	14843097	T	G	18	14843098	y	y	splicing	ANKRD30B(NM_001145029:exon33:c.2824+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon33:c.2824+2T>G)	.	.	0.99996947969426	0.732
18	14843098	A	C	18	14843099	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997280323980324	0.71
18	14843098	A	G	18	14843099	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.255948508066122	0.486
18	14843098	A	T	18	14843099	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997649409773339	0.642
18	14843099	A	C	18	14843100	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.306555296565044	0.344
18	14843099	A	G	18	14843100	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.227560713559236	0.454
18	14843099	A	T	18	14843100	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.330417265067797	0.476
18	14843100	A	C	18	14843101	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.64436725084578E-5	0.042
18	14843100	A	G	18	14843101	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.73469121246732E-4	0.104
18	14843100	A	T	18	14843101	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.8121353261333E-5	0.01
18	14843101	T	A	18	14843102	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.43929439450927E-4	0.076
18	14843101	T	C	18	14843102	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00174375146467917	0.108
18	14843101	T	G	18	14843102	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.11409392704021E-4	0.088
18	14843102	T	A	18	14843103	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.05099994025982E-4	0.014
18	14843102	T	C	18	14843103	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.31259380653469E-4	0.014
18	14843102	T	G	18	14843103	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.34177123357056E-5	0.014
18	14843103	T	A	18	14843104	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.32129412785724E-5	0.0
18	14843103	T	C	18	14843104	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.17486155721189E-5	0.0
18	14843103	T	G	18	14843104	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.46272204038908E-5	0.0
18	14848703	T	A	18	14848704	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.364592896292942	.
18	14848703	T	C	18	14848704	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.05558882931697E-5	.
18	14848703	T	G	18	14848704	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0991746577705163	.
18	14848704	C	A	18	14848705	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.967585710032999	.
18	14848704	C	G	18	14848705	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00786125918890488	.
18	14848704	C	T	18	14848705	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.78369854586499E-5	.
18	14848705	C	A	18	14848706	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.255017474899213	.
18	14848705	C	G	18	14848706	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00184236090536707	.
18	14848705	C	T	18	14848706	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.63753344945642E-5	.
18	14848706	T	A	18	14848707	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.973959327602873	.
18	14848706	T	C	18	14848707	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.0125715390483E-5	.
18	14848706	T	G	18	14848707	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.199236054231372	.
18	14848707	T	A	18	14848708	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.995707570869673	.
18	14848707	T	C	18	14848708	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.25657838526835E-5	.
18	14848707	T	G	18	14848708	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.849366737857611	.
18	14848708	G	A	18	14848709	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00176166674325057	.
18	14848708	G	C	18	14848709	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.68699910972096E-5	.
18	14848708	G	T	18	14848709	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.02368035479424E-5	.
18	14848709	A	C	18	14848710	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.92494640104585E-5	.
18	14848709	A	G	18	14848710	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.99152881505935E-5	.
18	14848709	A	T	18	14848710	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.92494640104585E-5	.
18	14848710	G	A	18	14848711	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.77200949477509E-5	.
18	14848710	G	C	18	14848711	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.06912610060893E-5	.
18	14848710	G	T	18	14848711	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.38382252991527E-5	.
18	14848711	A	C	18	14848712	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0012203011409124	.
18	14848711	A	G	18	14848712	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.85483137023738E-4	.
18	14848711	A	T	18	14848712	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00114820551155577	.
18	14848712	C	A	18	14848713	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999779198759085	.
18	14848712	C	G	18	14848713	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999849570425526	.
18	14848712	C	T	18	14848713	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0192035036553469	.
18	14848713	A	C	18	14848714	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.2825-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.2825-2A>C)	.	.	0.999717316826383	.
18	14848713	A	G	18	14848714	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.2825-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.2825-2A>G)	.	.	0.999717316826383	.
18	14848713	A	T	18	14848714	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.2825-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.2825-2A>T)	.	.	0.999717316826383	.
18	14848714	G	A	18	14848715	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.2825-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.2825-1G>A)	.	.	0.999757965264491	.
18	14848714	G	C	18	14848715	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.2825-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.2825-1G>C)	.	.	0.999757965264491	.
18	14848714	G	T	18	14848715	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.2825-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.2825-1G>T)	.	.	0.999757965264491	.
18	14848715	A	C	18	14848716	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.A2825C:p.D942A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.A2825C:p.D942A;	0.00663135028984227	.
18	14848715	A	G	18	14848716	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.A2825G:p.D942G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.A2825G:p.D942G;	4.33683121611899E-4	.
18	14848715	A	T	18	14848716	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.A2825T:p.D942V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.A2825T:p.D942V;	0.00405714119713887	.
18	14848716	T	A	18	14848717	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.T2826A:p.D942E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.T2826A:p.D942E;	0.0683898591589927	.
18	14848716	T	C	18	14848717	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon34:c.T2826C:p.D942D;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.T2826C:p.D942D;	0.00615304887321361	.
18	14848716	T	G	18	14848717	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.T2826G:p.D942E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.T2826G:p.D942E;	0.0241974005226915	.
18	14848926	G	A	18	14848927	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon34:c.G3036A:p.V1012V;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.G3036A:p.V1012V;	7.39446810089162E-5	0.0
18	14848926	G	C	18	14848927	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon34:c.G3036C:p.V1012V;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.G3036C:p.V1012V;	7.35019906133935E-5	0.004
18	14848926	G	T	18	14848927	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon34:c.G3036T:p.V1012V;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.G3036T:p.V1012V;	0.00311427420428978	0.062
18	14848927	A	C	18	14848928	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon34:c.A3037C:p.R1013R;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.A3037C:p.R1013R;	0.450561500948238	0.678
18	14848927	A	G	18	14848928	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.A3037G:p.R1013G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.A3037G:p.R1013G;	0.980197477766688	0.728
18	14848927	A	T	18	14848928	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon34:c.A3037T:p.R1013X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon34:c.A3037T:p.R1013X;	0.998487850062777	0.808
18	14848928	G	A	18	14848929	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.G3038A:p.R1013K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.G3038A:p.R1013K;	0.999924869359147	0.988
18	14848928	G	C	18	14848929	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.G3038C:p.R1013T;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.G3038C:p.R1013T;	0.999744923729915	0.908
18	14848928	G	T	18	14848929	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon34:c.G3038T:p.R1013I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon34:c.G3038T:p.R1013I;	0.999913549523446	0.978
18	14848929	G	A	18	14848930	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.3038+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.3038+1G>A)	.	.	0.99996405191659	0.744
18	14848929	G	C	18	14848930	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.3038+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.3038+1G>C)	.	.	0.999945590422375	0.768
18	14848929	G	T	18	14848930	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.3038+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.3038+1G>T)	.	.	0.999971596609132	0.754
18	14848930	T	A	18	14848931	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.3038+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.3038+2T>A)	.	.	0.99996405191659	0.774
18	14848930	T	C	18	14848931	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.3038+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.3038+2T>C)	.	.	0.941654978054735	0.466
18	14848930	T	G	18	14848931	y	y	splicing	ANKRD30B(NM_001145029:exon34:c.3038+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon34:c.3038+2T>G)	.	.	0.999971596609132	0.764
18	14848931	A	C	18	14848932	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99979860838071	0.88
18	14848931	A	G	18	14848932	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.996911199375892	0.742
18	14848931	A	T	18	14848932	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999405505179367	0.894
18	14848932	T	A	18	14848933	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.13460842528845E-5	0.138
18	14848932	T	C	18	14848933	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.57368494076671E-5	0.004
18	14848932	T	G	18	14848933	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.99154538436651E-5	0.024
18	14848933	G	A	18	14848934	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.99080299490989	0.37
18	14848933	G	C	18	14848934	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.940652606352976	0.39
18	14848933	G	T	18	14848934	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.924276188360472	0.352
18	14848934	A	C	18	14848935	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.2737198938672E-5	0.018
18	14848934	A	G	18	14848935	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.84223161746293E-5	0.0
18	14848934	A	T	18	14848935	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.13636228832643E-5	0.01
18	14848935	C	A	18	14848936	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.6525465928992E-6	0.0
18	14848935	C	G	18	14848936	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.70973958197042E-6	0.0
18	14848935	C	T	18	14848936	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.88596148408E-5	0.008
18	14848936	A	C	18	14848937	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.94761389496567E-5	0.02
18	14848936	A	G	18	14848937	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.94761389496567E-5	0.022
18	14848936	A	T	18	14848937	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67704594999413E-4	0.016
18	14850201	G	A	18	14850202	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.75612804580103E-5	0.002
18	14850201	G	C	18	14850202	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.35596834527089E-5	0.0
18	14850201	G	T	18	14850202	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.49192342457666E-5	0.02
18	14850202	T	A	18	14850203	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.94270090466934	0.628
18	14850202	T	C	18	14850203	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00169682867044595	0.324
18	14850202	T	G	18	14850203	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.75548089834228	0.592
18	14850203	T	A	18	14850204	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0729202293028307	0.454
18	14850203	T	C	18	14850204	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	5.4773174423235E-5	0.02
18	14850203	T	G	18	14850204	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0720817387439334	0.418
18	14850204	T	A	18	14850205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.2657414266676	0.5
18	14850204	T	C	18	14850205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.68619845043567E-5	0.022
18	14850204	T	G	18	14850205	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00894047257903722	0.32
18	14850205	A	C	18	14850206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.44567246961622E-5	0.004
18	14850205	A	G	18	14850206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.76938971746264E-5	0.176
18	14850205	A	T	18	14850206	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.67944982512943E-5	0.0
18	14850206	A	C	18	14850207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.50048030850939E-5	0.012
18	14850206	A	G	18	14850207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.995748363168569	0.982
18	14850206	A	T	18	14850207	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.14277818146748E-5	0.004
18	14850207	T	A	18	14850208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997042859432241	0.874
18	14850207	T	C	18	14850208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.19073042528038E-5	0.028
18	14850207	T	G	18	14850208	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.997042859432241	0.818
18	14850208	G	A	18	14850209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.990110795451009	0.99
18	14850208	G	C	18	14850209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.14277818146748E-5	0.002
18	14850208	G	T	18	14850209	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.07084114251852E-5	0.026
18	14850209	G	A	18	14850210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.86645223632162E-5	0.016
18	14850209	G	C	18	14850210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.08203235335028E-4	0.138
18	14850209	G	T	18	14850210	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.50231137607887E-4	0.058
18	14850210	C	A	18	14850211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.98022094308735	0.794
18	14850210	C	G	18	14850211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.995864793168468	0.668
18	14850210	C	T	18	14850211	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0404456920059453	0.42
18	14850211	A	C	18	14850212	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3039-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3039-2A>C)	.	.	0.999619755915597	0.73
18	14850211	A	G	18	14850212	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3039-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3039-2A>G)	.	.	0.999619755915597	0.73
18	14850211	A	T	18	14850212	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3039-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3039-2A>T)	.	.	0.999619755915597	0.744
18	14850212	G	A	18	14850213	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3039-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3039-1G>A)	.	.	0.999619755915597	0.752
18	14850212	G	C	18	14850213	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3039-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3039-1G>C)	.	.	0.999619755915597	0.748
18	14850212	G	T	18	14850213	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3039-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3039-1G>T)	.	.	0.999619755915597	0.752
18	14850213	A	C	18	14850214	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.A3039C:p.R1013S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.A3039C:p.R1013S;	0.00580771018212703	0.092
18	14850213	A	G	18	14850214	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon35:c.A3039G:p.R1013R;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.A3039G:p.R1013R;	1.82103525000096E-5	0.006
18	14850213	A	T	18	14850214	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.A3039T:p.R1013S;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.A3039T:p.R1013S;	0.00721310284034986	0.094
18	14850214	T	A	18	14850215	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.T3040A:p.L1014M;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.T3040A:p.L1014M;	6.81344468365768E-4	0.068
18	14850214	T	C	18	14850215	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon35:c.T3040C:p.L1014L;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.T3040C:p.L1014L;	4.32986769321025E-4	0.054
18	14850214	T	G	18	14850215	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.T3040G:p.L1014V;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.T3040G:p.L1014V;	0.00685736362376154	0.064
18	14850379	C	A	18	14850380	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.C3205A:p.Q1069K;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.C3205A:p.Q1069K;	7.98349284339728E-4	0.048
18	14850379	C	G	18	14850380	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.C3205G:p.Q1069E;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.C3205G:p.Q1069E;	6.96721121064502E-4	0.058
18	14850379	C	T	18	14850380	y	y	exonic	ANKRD30B	stopgain SNV	ANKRD30B:NM_001145029:exon35:c.C3205T:p.Q1069X;	exonic	ENSG00000180777	stopgain SNV	ENSG00000180777:ENST00000358984:exon35:c.C3205T:p.Q1069X;	0.535745686229771	0.692
18	14850380	A	C	18	14850381	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.A3206C:p.Q1069P;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.A3206C:p.Q1069P;	0.574092056519731	0.558
18	14850380	A	G	18	14850381	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.A3206G:p.Q1069R;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.A3206G:p.Q1069R;	0.883031838327677	0.534
18	14850380	A	T	18	14850381	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.A3206T:p.Q1069L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.A3206T:p.Q1069L;	0.951635012416317	0.666
18	14850381	G	A	18	14850382	y	y	exonic	ANKRD30B	synonymous SNV	ANKRD30B:NM_001145029:exon35:c.G3207A:p.Q1069Q;	exonic	ENSG00000180777	synonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.G3207A:p.Q1069Q;	0.996392442929829	0.806
18	14850381	G	C	18	14850382	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.G3207C:p.Q1069H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.G3207C:p.Q1069H;	0.99998726775579	0.95
18	14850381	G	T	18	14850382	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon35:c.G3207T:p.Q1069H;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon35:c.G3207T:p.Q1069H;	0.998955701268754	0.968
18	14850382	G	A	18	14850383	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3207+1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3207+1G>A)	.	.	0.999962956133083	0.762
18	14850382	G	C	18	14850383	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3207+1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3207+1G>C)	.	.	0.999962956133083	0.764
18	14850382	G	T	18	14850383	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3207+1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3207+1G>T)	.	.	0.999962956133083	0.764
18	14850383	T	A	18	14850384	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3207+2T>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3207+2T>A)	.	.	0.999962956133083	0.768
18	14850383	T	C	18	14850384	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3207+2T>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3207+2T>C)	.	.	0.949761911477058	0.496
18	14850383	T	G	18	14850384	y	y	splicing	ANKRD30B(NM_001145029:exon35:c.3207+2T>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon35:c.3207+2T>G)	.	.	0.999962956133083	0.77
18	14850384	A	C	18	14850385	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.617284715120822	0.272
18	14850384	A	G	18	14850385	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00640574516978226	0.252
18	14850384	A	T	18	14850385	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.408520797379785	0.234
18	14850385	A	C	18	14850386	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.247329251671637	0.43
18	14850385	A	G	18	14850386	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.288615019890272	0.424
18	14850385	A	T	18	14850386	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.281738346816417	0.452
18	14850386	A	C	18	14850387	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.07604603868716E-4	0.062
18	14850386	A	G	18	14850387	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.81618859248858E-4	0.096
18	14850386	A	T	18	14850387	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.09682260141724E-4	0.074
18	14850387	T	A	18	14850388	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.18229206179116E-4	0.138
18	14850387	T	C	18	14850388	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0014733252096919	0.21
18	14850387	T	G	18	14850388	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.61950621957447E-4	0.138
18	14850388	C	A	18	14850389	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.54502558698608E-6	0.002
18	14850388	C	G	18	14850389	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.33332944569198E-5	0.0
18	14850388	C	T	18	14850389	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.53275793561601E-5	0.0
18	14850389	A	C	18	14850390	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	8.65636539525587E-6	0.0
18	14850389	A	G	18	14850390	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.55218029485058E-5	0.0
18	14850389	A	T	18	14850390	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.52706805797628E-5	0.014
18	14851496	T	A	18	14851497	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.996566980073591	0.858
18	14851496	T	C	18	14851497	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.89969679580809E-5	0.0
18	14851496	T	G	18	14851497	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0012293459035255	0.24
18	14851497	G	A	18	14851498	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.30639944766592E-5	0.004
18	14851497	G	C	18	14851498	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.40173270250616E-6	0.0
18	14851497	G	T	18	14851498	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.26278840914138E-5	0.0
18	14851498	T	A	18	14851499	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0186867588539261	0.334
18	14851498	T	C	18	14851499	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	4.25359338631219E-5	0.01
18	14851498	T	G	18	14851499	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0187309413719704	0.336
18	14851499	T	A	18	14851500	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0173829052670885	0.21
18	14851499	T	C	18	14851500	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.16080995513754E-4	0.104
18	14851499	T	G	18	14851500	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0182727062827848	0.232
18	14851500	T	A	18	14851501	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0300327129091608	0.23
18	14851500	T	C	18	14851501	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	7.73632411056699E-5	0.036
18	14851500	T	G	18	14851501	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.00192810741100749	0.224
18	14851501	T	A	18	14851502	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.87091705787389E-4	0.038
18	14851501	T	C	18	14851502	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.02081314483442E-5	0.0
18	14851501	T	G	18	14851502	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.34284395390497E-4	0.044
18	14851502	A	C	18	14851503	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.41775583013701E-5	0.016
18	14851502	A	G	18	14851503	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	9.31155923956231E-5	0.034
18	14851502	A	T	18	14851503	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.29999421659842E-4	0.042
18	14851503	T	A	18	14851504	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0559428488736519	0.446
18	14851503	T	C	18	14851504	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	6.19586497699929E-5	0.0
18	14851503	T	G	18	14851504	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.998511490606256	0.904
18	14851504	T	A	18	14851505	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.3330844359836E-5	0.0
18	14851504	T	C	18	14851505	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	1.23695126415869E-5	0.002
18	14851504	T	G	18	14851505	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	3.85720052632626E-5	0.0
18	14851505	T	A	18	14851506	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.0282946163205774	0.186
18	14851505	T	C	18	14851506	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	2.32547889783755E-4	0.054
18	14851505	T	G	18	14851506	y	y	intronic	ANKRD30B	.	.	intronic	ENSG00000180777	.	.	0.999512277868843	0.69
18	14851506	A	C	18	14851507	y	y	splicing	ANKRD30B(NM_001145029:exon36:c.3208-2A>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon36:c.3208-2A>C)	.	.	0.99996947969426	0.774
18	14851506	A	G	18	14851507	y	y	splicing	ANKRD30B(NM_001145029:exon36:c.3208-2A>G)	.	.	splicing	ENSG00000180777(ENST00000358984:exon36:c.3208-2A>G)	.	.	0.99996947969426	0.774
18	14851506	A	T	18	14851507	y	y	splicing	ANKRD30B(NM_001145029:exon36:c.3208-2A>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon36:c.3208-2A>T)	.	.	0.99996947969426	0.774
18	14851507	G	A	18	14851508	y	y	splicing	ANKRD30B(NM_001145029:exon36:c.3208-1G>A)	.	.	splicing	ENSG00000180777(ENST00000358984:exon36:c.3208-1G>A)	.	.	0.99996947969426	0.754
18	14851507	G	C	18	14851508	y	y	splicing	ANKRD30B(NM_001145029:exon36:c.3208-1G>C)	.	.	splicing	ENSG00000180777(ENST00000358984:exon36:c.3208-1G>C)	.	.	0.99996947969426	0.75
18	14851507	G	T	18	14851508	y	y	splicing	ANKRD30B(NM_001145029:exon36:c.3208-1G>T)	.	.	splicing	ENSG00000180777(ENST00000358984:exon36:c.3208-1G>T)	.	.	0.99996947969426	0.752
18	14851508	G	A	18	14851509	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon36:c.G3208A:p.V1070I;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon36:c.G3208A:p.V1070I;	0.00136530255783894	0.132
18	14851508	G	C	18	14851509	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon36:c.G3208C:p.V1070L;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon36:c.G3208C:p.V1070L;	0.161420843176227	0.396
18	14851508	G	T	18	14851509	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon36:c.G3208T:p.V1070F;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon36:c.G3208T:p.V1070F;	0.652700997770373	0.528
18	14851509	T	A	18	14851510	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon36:c.T3209A:p.V1070D;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon36:c.T3209A:p.V1070D;	4.63568251056278E-4	0.014
18	14851509	T	C	18	14851510	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon36:c.T3209C:p.V1070A;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon36:c.T3209C:p.V1070A;	0.00104196014772267	0.012
18	14851509	T	G	18	14851510	y	y	exonic	ANKRD30B	nonsynonymous SNV	ANKRD30B:NM_001145029:exon36:c.T3209G:p.V1070G;	exonic	ENSG00000180777	nonsynonymous SNV	ENSG00000180777:ENST00000358984:exon36:c.T3209G:p.V1070G;	4.44385454376911E-4	0.002
18	18531347	A	C	18	20951386	y	y	exonic	ROCK1	stoploss SNV	ROCK1:NM_005406:exon33:c.T4063G:p.X1355E;	exonic	ENSG00000067900	stoploss SNV	ENSG00000067900:ENST00000399799:exon33:c.T4063G:p.X1355E;	5.7411865592236E-4	0.026
18	18531347	A	G	18	20951386	y	y	exonic	ROCK1	stoploss SNV	ROCK1:NM_005406:exon33:c.T4063C:p.X1355Q;	exonic	ENSG00000067900	stoploss SNV	ENSG00000067900:ENST00000399799:exon33:c.T4063C:p.X1355Q;	3.58742324877821E-4	0.05
18	18531347	A	T	18	20951386	y	y	exonic	ROCK1	stoploss SNV	ROCK1:NM_005406:exon33:c.T4063A:p.X1355K;	exonic	ENSG00000067900	stoploss SNV	ENSG00000067900:ENST00000399799:exon33:c.T4063A:p.X1355K;	0.00131573486592228	0.036
18	18531348	A	C	18	20951387	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon33:c.T4062G:p.S1354R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon33:c.T4062G:p.S1354R;	2.85154775121432E-5	0.056
18	18531348	A	G	18	20951387	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon33:c.T4062C:p.S1354S;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon33:c.T4062C:p.S1354S;	3.95031859615182E-5	0.04
18	18531348	A	T	18	20951387	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon33:c.T4062A:p.S1354R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon33:c.T4062A:p.S1354R;	1.09555574239056E-5	0.0
18	18531349	C	A	18	20951388	y	y	splicing	ROCK1(NM_005406:exon34:c.4062-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon34:c.4062-1G>T)	.	.	0.999987958061382	0.754
18	18531349	C	G	18	20951388	y	y	splicing	ROCK1(NM_005406:exon34:c.4062-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon34:c.4062-1G>C)	.	.	0.999987958061382	0.756
18	18531349	C	T	18	20951388	y	y	splicing	ROCK1(NM_005406:exon34:c.4062-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon34:c.4062-1G>A)	.	.	0.999982312740861	0.754
18	18531350	T	A	18	20951389	y	y	splicing	ROCK1(NM_005406:exon34:c.4062-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon34:c.4062-2A>T)	.	.	0.999987232675352	0.756
18	18531350	T	C	18	20951389	y	y	splicing	ROCK1(NM_005406:exon34:c.4062-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon34:c.4062-2A>G)	.	.	0.999991307692329	0.758
18	18531350	T	G	18	20951389	y	y	splicing	ROCK1(NM_005406:exon34:c.4062-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon34:c.4062-2A>C)	.	.	0.999991307692329	0.758
18	18531351	G	A	18	20951390	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00365373917268369	0.248
18	18531351	G	C	18	20951390	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999770484108521	0.906
18	18531351	G	T	18	20951390	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.590554185323424	0.662
18	18531352	T	A	18	20951391	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.34136802694284E-4	0.19
18	18531352	T	C	18	20951391	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.466040351550002	0.512
18	18531352	T	G	18	20951391	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.771693818235E-5	0.036
18	18531353	T	A	18	20951392	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.48091069557988E-4	0.04
18	18531353	T	C	18	20951392	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.25130932515648E-4	0.042
18	18531353	T	G	18	20951392	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.80122144943768E-4	0.034
18	18531354	G	A	18	20951393	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.56072058056565E-4	0.032
18	18531354	G	C	18	20951393	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00519739240531391	0.234
18	18531354	G	T	18	20951393	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00520088566905833	0.218
18	18531355	A	C	18	20951394	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.62020858426739E-4	0.046
18	18531355	A	G	18	20951394	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.19335848978813E-5	0.002
18	18531355	A	T	18	20951394	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.24878989231366E-4	0.032
18	18531356	G	A	18	20951395	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.61256531821488E-5	0.0
18	18531356	G	C	18	20951395	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.26772586736565E-4	0.014
18	18531356	G	T	18	20951395	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.67677214256102E-4	0.01
18	18531357	G	A	18	20951396	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.19993006893034E-5	0.008
18	18531357	G	C	18	20951396	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.38838777985945E-4	0.056
18	18531357	G	T	18	20951396	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.94763488907049E-4	0.04
18	18531358	G	A	18	20951397	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.03092100721736E-5	0.004
18	18531358	G	C	18	20951397	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.68698999089167E-4	0.006
18	18531358	G	T	18	20951397	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00118891261323217	0.042
18	18531359	A	C	18	20951398	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.30582302278382E-4	0.088
18	18531359	A	G	18	20951398	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.08720554606708E-5	0.034
18	18531359	A	T	18	20951398	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00123971328040098	0.15
18	18531360	G	A	18	20951399	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.49928645186824E-5	0.0
18	18531360	G	C	18	20951399	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.36525118115641E-4	0.012
18	18531360	G	T	18	20951399	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.60967732848936E-4	0.084
18	18533531	A	C	18	20953570	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	0.00151108457616126	0.004
18	18533531	A	G	18	20953570	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	0.00151108457616126	0.004
18	18533531	A	T	18	20953570	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	0.00151108457616126	0.004
18	18533532	T	A	18	20953571	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	1.7706656673938E-4	0.004
18	18533532	T	C	18	20953571	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	2.55917579810352E-4	0.004
18	18533532	T	G	18	20953571	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	2.55917579810352E-4	0.004
18	18533533	C	A	18	20953572	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	1.00483530025858E-4	0.002
18	18533533	C	G	18	20953572	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	8.35834179893584E-4	0.042
18	18533533	C	T	18	20953572	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	4.7397896096373E-4	0.01
18	18533534	C	A	18	20953573	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	0.914477177308099	0.564
18	18533534	C	G	18	20953573	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	0.836958596499403	0.628
18	18533534	C	T	18	20953573	y	n	intronic	ROCK1	.	.	UTR3	ENSG00000067900	.	.	0.964258645241168	0.544
18	18533535	T	A	18	20953574	y	n	intronic	ROCK1	.	.	exonic	ENSG00000067900	stoploss SNV	ENSG00000067900:ENST00000578051:exon2:c.A300T:p.X100Y;	0.986846110683552	0.728
18	18533535	T	C	18	20953574	y	n	intronic	ROCK1	.	.	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000578051:exon2:c.A300G:p.X100X;	0.99576534204333	0.732
18	18533535	T	G	18	20953574	y	n	intronic	ROCK1	.	.	exonic	ENSG00000067900	stoploss SNV	ENSG00000067900:ENST00000578051:exon2:c.A300C:p.X100Y;	0.974450484317157	0.802
18	18533536	T	A	18	20953575	y	n	intronic	ROCK1	.	.	exonic	ENSG00000067900	stoploss SNV	ENSG00000067900:ENST00000578051:exon2:c.A299T:p.X100L;	0.998585581490385	0.9
18	18533536	T	C	18	20953575	y	n	intronic	ROCK1	.	.	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000578051:exon2:c.A299G:p.X100X;	0.274984021103165	0.296
18	18533536	T	G	18	20953575	y	n	intronic	ROCK1	.	.	exonic	ENSG00000067900	stoploss SNV	ENSG00000067900:ENST00000578051:exon2:c.A299C:p.X100S;	0.999144636222968	0.93
18	18533537	A	C	18	20953576	y	n	splicing	ROCK1(NM_005406:exon33:c.4061+2T>G)	.	.	exonic;splicing	ENSG00000067900;ENSG00000067900(ENST00000399799:exon33:c.4061+2T>G)	stoploss SNV	ENSG00000067900:ENST00000578051:exon2:c.T298G:p.X100E;	0.999993672935256	0.93
18	18533537	A	G	18	20953576	y	n	splicing	ROCK1(NM_005406:exon33:c.4061+2T>C)	.	.	exonic;splicing	ENSG00000067900;ENSG00000067900(ENST00000399799:exon33:c.4061+2T>C)	stoploss SNV	ENSG00000067900:ENST00000578051:exon2:c.T298C:p.X100Q;	0.989732985218383	0.59
18	18533537	A	T	18	20953576	y	n	splicing	ROCK1(NM_005406:exon33:c.4061+2T>A)	.	.	exonic;splicing	ENSG00000067900;ENSG00000067900(ENST00000399799:exon33:c.4061+2T>A)	stoploss SNV	ENSG00000067900:ENST00000578051:exon2:c.T298A:p.X100K;	0.999993672935256	0.93
18	18533538	C	A	18	20953577	y	n	splicing	ROCK1(NM_005406:exon33:c.4061+1G>T)	.	.	exonic;splicing	ENSG00000067900;ENSG00000067900(ENST00000399799:exon33:c.4061+1G>T)	nonsynonymous SNV	ENSG00000067900:ENST00000578051:exon2:c.G297T:p.R99S;	0.999992446697775	0.932
18	18533538	C	G	18	20953577	y	n	splicing	ROCK1(NM_005406:exon33:c.4061+1G>C)	.	.	exonic;splicing	ENSG00000067900;ENSG00000067900(ENST00000399799:exon33:c.4061+1G>C)	nonsynonymous SNV	ENSG00000067900:ENST00000578051:exon2:c.G297C:p.R99S;	0.999992446697775	0.932
18	18533538	C	T	18	20953577	y	n	splicing	ROCK1(NM_005406:exon33:c.4061+1G>A)	.	.	exonic;splicing	ENSG00000067900;ENSG00000067900(ENST00000399799:exon33:c.4061+1G>A)	synonymous SNV	ENSG00000067900:ENST00000578051:exon2:c.G297A:p.R99R;	0.999992446697775	0.932
18	18533539	C	A	18	20953578	y	n	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.G4061T:p.S1354I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.G4061T:p.S1354I;ENSG00000067900:ENST00000578051:exon2:c.G296T:p.R99M;	0.999384432834914	0.986
18	18533539	C	G	18	20953578	y	n	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.G4061C:p.S1354T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.G4061C:p.S1354T;ENSG00000067900:ENST00000578051:exon2:c.G296C:p.R99T;	0.999943480853116	0.938
18	18533539	C	T	18	20953578	y	n	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.G4061A:p.S1354N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.G4061A:p.S1354N;ENSG00000067900:ENST00000578051:exon2:c.G296A:p.R99K;	0.999370995204326	0.792
18	18533540	T	A	18	20953579	y	n	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.A4060T:p.S1354C;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.A4060T:p.S1354C;ENSG00000067900:ENST00000578051:exon2:c.A295T:p.R99W;	0.963280348999663	0.832
18	18533540	T	C	18	20953579	y	n	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.A4060G:p.S1354G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.A4060G:p.S1354G;ENSG00000067900:ENST00000578051:exon2:c.A295G:p.R99G;	0.90396365859552	0.708
18	18533540	T	G	18	20953579	y	n	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.A4060C:p.S1354R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.A4060C:p.S1354R;	0.987150895995014	0.918
18	18533541	A	C	18	20953580	y	n	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon32:c.T4059G:p.T1353T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.T4059G:p.T1353T;ENSG00000067900:ENST00000578051:exon2:c.T294G:p.T98T;	0.00165701221080881	0.048
18	18533541	A	G	18	20953580	y	n	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon32:c.T4059C:p.T1353T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.T4059C:p.T1353T;ENSG00000067900:ENST00000578051:exon2:c.T294C:p.T98T;	8.16922637492799E-4	0.022
18	18533541	A	T	18	20953580	y	n	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon32:c.T4059A:p.T1353T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.T4059A:p.T1353T;ENSG00000067900:ENST00000578051:exon2:c.T294A:p.T98T;	7.33169938518665E-4	0.008
18	18533745	T	A	18	20953784	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon32:c.A3855T:p.V1285V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.A3855T:p.V1285V;ENSG00000067900:ENST00000578051:exon2:c.A90T:p.V30V;	0.00127324049223316	0.07
18	18533745	T	C	18	20953784	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon32:c.A3855G:p.V1285V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.A3855G:p.V1285V;ENSG00000067900:ENST00000578051:exon2:c.A90G:p.V30V;	0.00254849707738697	0.034
18	18533745	T	G	18	20953784	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon32:c.A3855C:p.V1285V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.A3855C:p.V1285V;ENSG00000067900:ENST00000578051:exon2:c.A90C:p.V30V;	0.00370942620897661	0.036
18	18533746	A	C	18	20953785	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.T3854G:p.V1285G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.T3854G:p.V1285G;ENSG00000067900:ENST00000578051:exon2:c.T89G:p.V30G;	0.0069317645698481	0.138
18	18533746	A	G	18	20953785	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.T3854C:p.V1285A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.T3854C:p.V1285A;ENSG00000067900:ENST00000578051:exon2:c.T89C:p.V30A;	0.00194547097322117	0.042
18	18533746	A	T	18	20953785	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon32:c.T3854A:p.V1285E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon32:c.T3854A:p.V1285E;ENSG00000067900:ENST00000578051:exon2:c.T89A:p.V30E;	0.00324683720670804	0.062
18	18533747	C	A	18	20953786	y	y	splicing	ROCK1(NM_005406:exon33:c.3854-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon33:c.3854-1G>T;ENST00000578051:exon3:c.89-1G>T)	.	.	0.999985819036383	0.928
18	18533747	C	G	18	20953786	y	y	splicing	ROCK1(NM_005406:exon33:c.3854-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon33:c.3854-1G>C;ENST00000578051:exon3:c.89-1G>C)	.	.	0.999985819036383	0.926
18	18533747	C	T	18	20953786	y	y	splicing	ROCK1(NM_005406:exon33:c.3854-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon33:c.3854-1G>A;ENST00000578051:exon3:c.89-1G>A)	.	.	0.999985819036383	0.928
18	18533748	T	A	18	20953787	y	y	splicing	ROCK1(NM_005406:exon33:c.3854-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon33:c.3854-2A>T;ENST00000578051:exon3:c.89-2A>T)	.	.	0.999977766528316	0.922
18	18533748	T	C	18	20953787	y	y	splicing	ROCK1(NM_005406:exon33:c.3854-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon33:c.3854-2A>G;ENST00000578051:exon3:c.89-2A>G)	.	.	0.999977766528316	0.944
18	18533748	T	G	18	20953787	y	y	splicing	ROCK1(NM_005406:exon33:c.3854-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon33:c.3854-2A>C;ENST00000578051:exon3:c.89-2A>C)	.	.	0.999977766528316	0.944
18	18533749	A	C	18	20953788	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.974618022279645	0.626
18	18533749	A	G	18	20953788	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.08563697445914E-4	0.184
18	18533749	A	T	18	20953788	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.299075448949679	0.434
18	18533750	T	A	18	20953789	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.76651929011089E-4	0.076
18	18533750	T	C	18	20953789	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.5251443220988E-4	0.11
18	18533750	T	G	18	20953789	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.59916979505067E-4	0.01
18	18533751	G	A	18	20953790	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.33684777350849E-5	0.0
18	18533751	G	C	18	20953790	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.991748128436536	0.782
18	18533751	G	T	18	20953790	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.11992109571484E-4	0.172
18	18533752	T	A	18	20953791	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.44455711322679E-5	0.03
18	18533752	T	C	18	20953791	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999008208691884	0.982
18	18533752	T	G	18	20953791	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.59422148546081E-4	0.066
18	18533753	T	A	18	20953792	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.94290396775024E-4	0.022
18	18533753	T	C	18	20953792	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.05477542291356E-4	0.002
18	18533753	T	G	18	20953792	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.56089429334793E-4	0.038
18	18533754	A	C	18	20953793	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00239760091749517	0.192
18	18533754	A	G	18	20953793	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.61451863895739E-5	0.024
18	18533754	A	T	18	20953793	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00856079070330589	0.168
18	18533755	A	C	18	20953794	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0855236615992699	0.418
18	18533755	A	G	18	20953794	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.32154837533446E-4	0.024
18	18533755	A	T	18	20953794	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.117171411266853	0.436
18	18533756	G	A	18	20953795	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.91683211707006E-5	0.0
18	18533756	G	C	18	20953795	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.25356360830837E-4	0.024
18	18533756	G	T	18	20953795	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.13850495350413E-4	0.04
18	18533757	G	A	18	20953796	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.40118351171794E-5	0.0
18	18533757	G	C	18	20953796	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.66846658900018E-4	0.038
18	18533757	G	T	18	20953796	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00288968885623207	0.084
18	18533758	A	C	18	20953797	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00149829307431168	0.29
18	18533758	A	G	18	20953797	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.20877571240509E-4	0.02
18	18533758	A	T	18	20953797	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00178243129300022	0.292
18	18534736	T	A	18	20954775	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.17919877724079E-5	0.0
18	18534736	T	C	18	20954775	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.17919877724079E-5	0.0
18	18534736	T	G	18	20954775	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.17919877724079E-5	0.0
18	18534737	G	A	18	20954776	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.99049427680259E-5	0.002
18	18534737	G	C	18	20954776	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.99324521366635E-5	0.006
18	18534737	G	T	18	20954776	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.15849948155271E-5	0.0
18	18534738	C	A	18	20954777	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.04799102519692E-5	0.0
18	18534738	C	G	18	20954777	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.64024869438218E-5	0.0
18	18534738	C	T	18	20954777	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.21358660892703E-5	0.0
18	18534739	C	A	18	20954778	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.686016458863608	0.416
18	18534739	C	G	18	20954778	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.418600758489087	0.458
18	18534739	C	T	18	20954778	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.636862709494991	0.436
18	18534740	T	A	18	20954779	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.50890546304386	0.556
18	18534740	T	C	18	20954779	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.732927156018287	0.504
18	18534740	T	G	18	20954779	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.267814063173109	0.532
18	18534741	T	A	18	20954780	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.948329874931737	0.658
18	18534741	T	C	18	20954780	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00954798307523551	0.098
18	18534741	T	G	18	20954780	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993751645918694	0.738
18	18534742	A	C	18	20954781	y	y	splicing	ROCK1(NM_005406:exon32:c.3853+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3853+2T>G;ENST00000578051:exon2:c.88+2T>G)	.	.	0.999988247793601	0.924
18	18534742	A	G	18	20954781	y	y	splicing	ROCK1(NM_005406:exon32:c.3853+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3853+2T>C;ENST00000578051:exon2:c.88+2T>C)	.	.	0.989597641696455	0.608
18	18534742	A	T	18	20954781	y	y	splicing	ROCK1(NM_005406:exon32:c.3853+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3853+2T>A;ENST00000578051:exon2:c.88+2T>A)	.	.	0.999988247793601	0.914
18	18534743	C	A	18	20954782	y	y	splicing	ROCK1(NM_005406:exon32:c.3853+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3853+1G>T;ENST00000578051:exon2:c.88+1G>T)	.	.	0.999986675681007	0.926
18	18534743	C	G	18	20954782	y	y	splicing	ROCK1(NM_005406:exon32:c.3853+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3853+1G>C;ENST00000578051:exon2:c.88+1G>C)	.	.	0.999986675681007	0.926
18	18534743	C	T	18	20954782	y	y	splicing	ROCK1(NM_005406:exon32:c.3853+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3853+1G>A;ENST00000578051:exon2:c.88+1G>A)	.	.	0.999986675681007	0.926
18	18534744	C	A	18	20954783	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.G3853T:p.V1285L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.G3853T:p.V1285L;ENSG00000067900:ENST00000578051:exon1:c.G88T:p.V30L;	0.997566003441448	0.966
18	18534744	C	G	18	20954783	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.G3853C:p.V1285L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.G3853C:p.V1285L;ENSG00000067900:ENST00000578051:exon1:c.G88C:p.V30L;	0.996174626281494	0.868
18	18534744	C	T	18	20954783	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.G3853A:p.V1285I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.G3853A:p.V1285I;ENSG00000067900:ENST00000578051:exon1:c.G88A:p.V30I;	0.999541145025419	0.988
18	18534745	T	A	18	20954784	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.A3852T:p.K1284N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3852T:p.K1284N;ENSG00000067900:ENST00000578051:exon1:c.A87T:p.K29N;	0.945908819075669	0.604
18	18534745	T	C	18	20954784	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon31:c.A3852G:p.K1284K;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3852G:p.K1284K;ENSG00000067900:ENST00000578051:exon1:c.A87G:p.K29K;	0.954580827280747	0.92
18	18534745	T	G	18	20954784	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.A3852C:p.K1284N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3852C:p.K1284N;ENSG00000067900:ENST00000578051:exon1:c.A87C:p.K29N;	0.956839553342872	0.806
18	18534746	T	A	18	20954785	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.A3851T:p.K1284I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3851T:p.K1284I;ENSG00000067900:ENST00000578051:exon1:c.A86T:p.K29I;	0.768076349645049	0.382
18	18534746	T	C	18	20954785	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.A3851G:p.K1284R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3851G:p.K1284R;ENSG00000067900:ENST00000578051:exon1:c.A86G:p.K29R;	0.0900349963678197	0.248
18	18534746	T	G	18	20954785	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.A3851C:p.K1284T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3851C:p.K1284T;ENSG00000067900:ENST00000578051:exon1:c.A86C:p.K29T;	0.0274328581262103	0.168
18	18535004	A	C	18	20955043	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.T3593G:p.I1198R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.T3593G:p.I1198R;	0.109176638017993	0.358
18	18535004	A	G	18	20955043	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.T3593C:p.I1198T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.T3593C:p.I1198T;	0.127426386508831	0.324
18	18535004	A	T	18	20955043	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.T3593A:p.I1198K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.T3593A:p.I1198K;	0.106063628906471	0.298
18	18535005	T	A	18	20955044	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.A3592T:p.I1198L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3592T:p.I1198L;	0.110653430174273	0.34
18	18535005	T	C	18	20955044	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.A3592G:p.I1198V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3592G:p.I1198V;	0.405694487718528	0.402
18	18535005	T	G	18	20955044	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon31:c.A3592C:p.I1198L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon31:c.A3592C:p.I1198L;	0.0967412809848375	0.238
18	18535006	C	A	18	20955045	y	y	splicing	ROCK1(NM_005406:exon32:c.3592-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3592-1G>T)	.	.	0.999984967332678	0.936
18	18535006	C	G	18	20955045	y	y	splicing	ROCK1(NM_005406:exon32:c.3592-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3592-1G>C)	.	.	0.999984967332678	0.936
18	18535006	C	T	18	20955045	y	y	splicing	ROCK1(NM_005406:exon32:c.3592-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3592-1G>A)	.	.	0.999984967332678	0.936
18	18535007	T	A	18	20955046	y	y	splicing	ROCK1(NM_005406:exon32:c.3592-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3592-2A>T)	.	.	0.999988624979899	0.934
18	18535007	T	C	18	20955046	y	y	splicing	ROCK1(NM_005406:exon32:c.3592-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3592-2A>G)	.	.	0.999988624979899	0.934
18	18535007	T	G	18	20955046	y	y	splicing	ROCK1(NM_005406:exon32:c.3592-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon32:c.3592-2A>C)	.	.	0.999988624979899	0.934
18	18535008	A	C	18	20955047	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.982926380667044	0.69
18	18535008	A	G	18	20955047	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.64922409828921E-5	0.0
18	18535008	A	T	18	20955047	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.873881946006897	0.516
18	18535009	C	A	18	20955048	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.09724583275157E-4	0.016
18	18535009	C	G	18	20955048	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.34863404888356E-4	0.008
18	18535009	C	T	18	20955048	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.01380568982662E-4	0.046
18	18535010	A	C	18	20955049	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999959910620038	0.966
18	18535010	A	G	18	20955049	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0261712551291422	0.128
18	18535010	A	T	18	20955049	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99998013578211	0.95
18	18535011	T	A	18	20955050	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.99495170587674E-4	0.014
18	18535011	T	C	18	20955050	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998971819436467	0.954
18	18535011	T	G	18	20955050	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.99495170587674E-4	0.016
18	18535012	T	A	18	20955051	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00145847607891524	0.042
18	18535012	T	C	18	20955051	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0188869438501384	0.068
18	18535012	T	G	18	20955051	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00225053118213662	0.022
18	18535013	C	A	18	20955052	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.23980984797604E-5	0.062
18	18535013	C	G	18	20955052	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.054259209987E-4	0.02
18	18535013	C	T	18	20955052	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.46897036617188E-4	0.064
18	18535014	A	C	18	20955053	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.994379980125218	0.84
18	18535014	A	G	18	20955053	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0159142868882068	0.302
18	18535014	A	T	18	20955053	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999982084088092	0.976
18	18535015	G	A	18	20955054	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.77859097225423E-4	0.038
18	18535015	G	C	18	20955054	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0124177196254936	0.09
18	18535015	G	T	18	20955054	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00642828885950441	0.16
18	18535016	G	A	18	20955055	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.70590830973013E-5	0.0
18	18535016	G	C	18	20955055	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.91370799075534E-4	0.126
18	18535016	G	T	18	20955055	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.32050974507828E-4	0.11
18	18535017	A	C	18	20955056	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0271929833616559	0.492
18	18535017	A	G	18	20955056	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.31981256103222E-4	0.094
18	18535017	A	T	18	20955056	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.33361150343515	0.64
18	18535120	A	C	18	20955159	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.37025556711352E-4	0.008
18	18535120	A	G	18	20955159	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.2816910617943E-4	0.008
18	18535120	A	T	18	20955159	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.2816910617943E-4	0.006
18	18535121	T	A	18	20955160	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.48313901367667E-5	0.02
18	18535121	T	C	18	20955160	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.17271942935023E-4	0.006
18	18535121	T	G	18	20955160	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.3272453862844E-5	0.006
18	18535122	T	A	18	20955161	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.31031284291993E-4	0.042
18	18535122	T	C	18	20955161	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00138745771336959	0.012
18	18535122	T	G	18	20955161	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00844260317498576	0.114
18	18535123	T	A	18	20955162	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.98011940837414E-4	0.014
18	18535123	T	C	18	20955162	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.78433856401654E-4	0.104
18	18535123	T	G	18	20955162	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.59358508373726E-4	0.028
18	18535124	T	A	18	20955163	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.887785115089034	0.46
18	18535124	T	C	18	20955163	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.809040692077315	0.468
18	18535124	T	G	18	20955163	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.787845303051243	0.408
18	18535125	T	A	18	20955164	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999509210553671	0.932
18	18535125	T	C	18	20955164	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.974704716612304	0.72
18	18535125	T	G	18	20955164	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999363301834658	0.954
18	18535126	A	C	18	20955165	y	y	splicing	ROCK1(NM_005406:exon31:c.3591+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3591+2T>G)	.	.	0.999993519952936	0.928
18	18535126	A	G	18	20955165	y	y	splicing	ROCK1(NM_005406:exon31:c.3591+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3591+2T>C)	.	.	0.996061584168578	0.6
18	18535126	A	T	18	20955165	y	y	splicing	ROCK1(NM_005406:exon31:c.3591+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3591+2T>A)	.	.	0.999993519952936	0.928
18	18535127	C	A	18	20955166	y	y	splicing	ROCK1(NM_005406:exon31:c.3591+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3591+1G>T)	.	.	0.999988247793601	0.93
18	18535127	C	G	18	20955166	y	y	splicing	ROCK1(NM_005406:exon31:c.3591+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3591+1G>C)	.	.	0.999988247793601	0.93
18	18535127	C	T	18	20955166	y	y	splicing	ROCK1(NM_005406:exon31:c.3591+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3591+1G>A)	.	.	0.999988247793601	0.932
18	18535128	C	A	18	20955167	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.G3591T:p.Q1197H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.G3591T:p.Q1197H;	0.999990846406755	0.984
18	18535128	C	G	18	20955167	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.G3591C:p.Q1197H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.G3591C:p.Q1197H;	0.999998312535482	1.0
18	18535128	C	T	18	20955167	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon30:c.G3591A:p.Q1197Q;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.G3591A:p.Q1197Q;	0.999966017126646	0.998
18	18535129	T	A	18	20955168	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.A3590T:p.Q1197L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.A3590T:p.Q1197L;	0.999490725576808	0.992
18	18535129	T	C	18	20955168	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.A3590G:p.Q1197R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.A3590G:p.Q1197R;	0.997745697356654	0.956
18	18535129	T	G	18	20955168	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.A3590C:p.Q1197P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.A3590C:p.Q1197P;	0.992159672208026	0.858
18	18535130	G	A	18	20955169	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon30:c.C3589T:p.Q1197X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon30:c.C3589T:p.Q1197X;	0.999186865049281	0.95
18	18535130	G	C	18	20955169	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.C3589G:p.Q1197E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.C3589G:p.Q1197E;	0.807865290168475	0.622
18	18535130	G	T	18	20955169	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.C3589A:p.Q1197K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.C3589A:p.Q1197K;	0.918040630972172	0.766
18	18535205	T	A	18	20955244	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon30:c.A3514T:p.K1172X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon30:c.A3514T:p.K1172X;	0.761903289857553	0.83
18	18535205	T	C	18	20955244	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.A3514G:p.K1172E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.A3514G:p.K1172E;	0.669430356647216	0.634
18	18535205	T	G	18	20955244	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.A3514C:p.K1172Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.A3514C:p.K1172Q;	0.739692227562957	0.698
18	18535206	A	C	18	20955245	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.T3513G:p.D1171E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.T3513G:p.D1171E;	0.634114068264247	0.61
18	18535206	A	G	18	20955245	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon30:c.T3513C:p.D1171D;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.T3513C:p.D1171D;	0.00375188643152776	0.028
18	18535206	A	T	18	20955245	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon30:c.T3513A:p.D1171E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon30:c.T3513A:p.D1171E;	0.445294695931792	0.662
18	18535207	C	A	18	20955246	y	y	splicing	ROCK1(NM_005406:exon31:c.3513-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3513-1G>T)	.	.	0.999981760802075	0.94
18	18535207	C	G	18	20955246	y	y	splicing	ROCK1(NM_005406:exon31:c.3513-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3513-1G>C)	.	.	0.999981760802075	0.94
18	18535207	C	T	18	20955246	y	y	splicing	ROCK1(NM_005406:exon31:c.3513-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3513-1G>A)	.	.	0.999981760802075	0.94
18	18535208	T	A	18	20955247	y	y	splicing	ROCK1(NM_005406:exon31:c.3513-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3513-2A>T)	.	.	0.999989917668626	0.926
18	18535208	T	C	18	20955247	y	y	splicing	ROCK1(NM_005406:exon31:c.3513-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3513-2A>G)	.	.	0.999989917668626	0.926
18	18535208	T	G	18	20955247	y	y	splicing	ROCK1(NM_005406:exon31:c.3513-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon31:c.3513-2A>C)	.	.	0.999989917668626	0.926
18	18535209	A	C	18	20955248	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.987000681703695	0.708
18	18535209	A	G	18	20955248	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.4321298388246E-5	0.016
18	18535209	A	T	18	20955248	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0357879819225228	0.354
18	18535210	A	C	18	20955249	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0107188488133123	0.084
18	18535210	A	G	18	20955249	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.69730154836773E-4	0.002
18	18535210	A	T	18	20955249	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00192493878955351	0.038
18	18535211	A	C	18	20955250	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.978171711122691	0.57
18	18535211	A	G	18	20955250	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00364850567486331	0.17
18	18535211	A	T	18	20955250	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.984927049428772	0.602
18	18535212	A	C	18	20955251	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999946438106079	0.964
18	18535212	A	G	18	20955251	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00339317426759362	0.102
18	18535212	A	T	18	20955251	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.781817324035618	0.514
18	18535213	T	A	18	20955252	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.28391722955778E-5	0.0
18	18535213	T	C	18	20955252	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.49011727534591E-5	0.0
18	18535213	T	G	18	20955252	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.03906083913392E-5	0.0
18	18535214	G	A	18	20955253	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.36385636983073E-5	0.0
18	18535214	G	C	18	20955253	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.6579808852765E-4	0.036
18	18535214	G	T	18	20955253	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.90001510074091E-4	0.024
18	18535215	A	C	18	20955254	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.300048739058075	0.518
18	18535215	A	G	18	20955254	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.88823321641107E-5	0.018
18	18535215	A	T	18	20955254	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.836620888095293	0.556
18	18535216	A	C	18	20955255	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.934675230097597	0.786
18	18535216	A	G	18	20955255	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0024550367980627	0.064
18	18535216	A	T	18	20955255	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.949197986305148	0.696
18	18535217	A	C	18	20955256	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.96875841671095	0.72
18	18535217	A	G	18	20955256	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0317512572896862	0.252
18	18535217	A	T	18	20955256	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.986905165327493	0.79
18	18535218	A	C	18	20955257	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999657616552204	0.96
18	18535218	A	G	18	20955257	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.17256881015347E-4	0.016
18	18535218	A	T	18	20955257	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0878391010490788	0.484
18	18539793	C	A	18	20959832	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00284597064949693	0.032
18	18539793	C	G	18	20959832	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00272888964486952	0.034
18	18539793	C	T	18	20959832	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00316183334883495	0.032
18	18539794	A	C	18	20959833	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.34846536181271E-5	0.0
18	18539794	A	G	18	20959833	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.24236979434921E-5	0.0
18	18539794	A	T	18	20959833	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.11912298705487E-4	0.0
18	18539795	A	C	18	20959834	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993774648168576	0.912
18	18539795	A	G	18	20959834	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.987548359364959	0.77
18	18539795	A	T	18	20959834	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.987936759196108	0.64
18	18539796	C	A	18	20959835	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999968833967818	0.986
18	18539796	C	G	18	20959835	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999968833967818	0.988
18	18539796	C	T	18	20959835	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99996671176368	0.99
18	18539797	T	A	18	20959836	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995146905619425	0.904
18	18539797	T	C	18	20959836	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993932573534655	0.88
18	18539797	T	G	18	20959836	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995730296365697	0.886
18	18539798	T	A	18	20959837	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999839646084714	0.932
18	18539798	T	C	18	20959837	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.399363815318232	0.42
18	18539798	T	G	18	20959837	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999842913229171	0.856
18	18539799	A	C	18	20959838	y	y	splicing	ROCK1(NM_005406:exon30:c.3512+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3512+2T>G)	.	.	0.999988247793601	0.928
18	18539799	A	G	18	20959838	y	y	splicing	ROCK1(NM_005406:exon30:c.3512+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3512+2T>C)	.	.	0.993661531455301	0.62
18	18539799	A	T	18	20959838	y	y	splicing	ROCK1(NM_005406:exon30:c.3512+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3512+2T>A)	.	.	0.999988247793601	0.928
18	18539800	C	A	18	20959839	y	y	splicing	ROCK1(NM_005406:exon30:c.3512+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3512+1G>T)	.	.	0.999986675681007	0.93
18	18539800	C	G	18	20959839	y	y	splicing	ROCK1(NM_005406:exon30:c.3512+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3512+1G>C)	.	.	0.999986675681007	0.93
18	18539800	C	T	18	20959839	y	y	splicing	ROCK1(NM_005406:exon30:c.3512+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3512+1G>A)	.	.	0.999986675681007	0.93
18	18539801	T	A	18	20959840	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.A3512T:p.D1171V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3512T:p.D1171V;	0.682599373654211	0.6
18	18539801	T	C	18	20959840	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.A3512G:p.D1171G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3512G:p.D1171G;	0.433873103774476	0.408
18	18539801	T	G	18	20959840	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.A3512C:p.D1171A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3512C:p.D1171A;	0.281258161204924	0.558
18	18539802	C	A	18	20959841	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.G3511T:p.D1171Y;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.G3511T:p.D1171Y;	0.989840558198379	0.874
18	18539802	C	G	18	20959841	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.G3511C:p.D1171H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.G3511C:p.D1171H;	0.977166599665185	0.83
18	18539802	C	T	18	20959841	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.G3511A:p.D1171N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.G3511A:p.D1171N;	0.919119563734052	0.652
18	18539803	T	A	18	20959842	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon29:c.A3510T:p.I1170I;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3510T:p.I1170I;	0.00280597556690135	0.128
18	18539803	T	C	18	20959842	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.A3510G:p.I1170M;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3510G:p.I1170M;	7.92732101114552E-5	0.052
18	18539803	T	G	18	20959842	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon29:c.A3510C:p.I1170I;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3510C:p.I1170I;	2.14871365004301E-4	0.004
18	18539888	T	A	18	20959927	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.A3425T:p.Y1142F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3425T:p.Y1142F;	0.916060104102189	0.732
18	18539888	T	C	18	20959927	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.A3425G:p.Y1142C;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3425G:p.Y1142C;	0.915020564456011	0.538
18	18539888	T	G	18	20959927	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.A3425C:p.Y1142S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.A3425C:p.Y1142S;	0.90555325319615	0.774
18	18539889	A	C	18	20959928	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.T3424G:p.Y1142D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.T3424G:p.Y1142D;	0.79475749050817	0.616
18	18539889	A	G	18	20959928	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.T3424C:p.Y1142H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.T3424C:p.Y1142H;	0.934367978000867	0.742
18	18539889	A	T	18	20959928	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon29:c.T3424A:p.Y1142N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon29:c.T3424A:p.Y1142N;	0.733339250604867	0.668
18	18539890	C	A	18	20959929	y	y	splicing	ROCK1(NM_005406:exon30:c.3424-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3424-1G>T)	.	.	0.999989072007339	0.934
18	18539890	C	G	18	20959929	y	y	splicing	ROCK1(NM_005406:exon30:c.3424-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3424-1G>C)	.	.	0.999989072007339	0.934
18	18539890	C	T	18	20959929	y	y	splicing	ROCK1(NM_005406:exon30:c.3424-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3424-1G>A)	.	.	0.999989072007339	0.934
18	18539891	T	A	18	20959930	y	y	splicing	ROCK1(NM_005406:exon30:c.3424-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3424-2A>T)	.	.	0.999988247793601	0.93
18	18539891	T	C	18	20959930	y	y	splicing	ROCK1(NM_005406:exon30:c.3424-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3424-2A>G)	.	.	0.999988247793601	0.93
18	18539891	T	G	18	20959930	y	y	splicing	ROCK1(NM_005406:exon30:c.3424-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon30:c.3424-2A>C)	.	.	0.999988247793601	0.93
18	18539892	G	A	18	20959931	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0557200595006969	0.11
18	18539892	G	C	18	20959931	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999781813256575	0.87
18	18539892	G	T	18	20959931	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.949121229514864	0.788
18	18539893	A	C	18	20959932	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.73828133499646E-4	0.02
18	18539893	A	G	18	20959932	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.66319985956906E-4	0.012
18	18539893	A	T	18	20959932	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.53095685404656E-4	0.062
18	18539894	A	C	18	20959933	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.873400188505355	0.64
18	18539894	A	G	18	20959933	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.309924225476979	0.362
18	18539894	A	T	18	20959933	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.941254828639248	0.658
18	18539895	A	C	18	20959934	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99991398468331	0.974
18	18539895	A	G	18	20959934	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00223866915763319	0.05
18	18539895	A	T	18	20959934	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0543143133977322	0.138
18	18539896	T	A	18	20959935	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.15316750817086E-4	0.0
18	18539896	T	C	18	20959935	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.09652549104987E-4	0.012
18	18539896	T	G	18	20959935	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.59589638252678E-4	0.002
18	18539897	A	C	18	20959936	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.61498044576345E-4	0.062
18	18539897	A	G	18	20959936	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.20109504048523E-5	0.006
18	18539897	A	T	18	20959936	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.86158664806047E-4	0.106
18	18539898	A	C	18	20959937	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0158922797987771	0.228
18	18539898	A	G	18	20959937	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00136450476477441	0.116
18	18539898	A	T	18	20959937	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0156739415039755	0.232
18	18539899	G	A	18	20959938	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.58775765769716E-5	0.114
18	18539899	G	C	18	20959938	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.18263556972968E-5	0.04
18	18539899	G	T	18	20959938	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.29606171857675E-5	0.1
18	18539900	A	C	18	20959939	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0806098529642233	0.354
18	18539900	A	G	18	20959939	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0114684786594586	0.11
18	18539900	A	T	18	20959939	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0972926507794788	0.412
18	18539901	A	C	18	20959940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0225727199741439	0.21
18	18539901	A	G	18	20959940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00134752166409141	0.086
18	18539901	A	T	18	20959940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00996240383251071	0.258
18	18540089	T	A	18	20960128	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.78958691012223E-5	0.002
18	18540089	T	C	18	20960128	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.78958691012223E-5	0.0
18	18540089	T	G	18	20960128	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.78958691012223E-5	0.0
18	18540090	A	C	18	20960129	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.71855697756266E-4	0.028
18	18540090	A	G	18	20960129	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.71855697756266E-4	0.026
18	18540090	A	T	18	20960129	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00150395402765927	0.042
18	18540091	T	A	18	20960130	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.66739237406858E-5	0.028
18	18540091	T	C	18	20960130	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.24296436827248E-4	0.0
18	18540091	T	G	18	20960130	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.33909335839936E-4	0.036
18	18540092	G	A	18	20960131	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.32464370102646E-4	0.002
18	18540092	G	C	18	20960131	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.55164284420467E-4	0.042
18	18540092	G	T	18	20960131	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.79476624482563E-5	0.008
18	18540093	G	A	18	20960132	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00107813254659897	0.052
18	18540093	G	C	18	20960132	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.83388964585822E-4	0.058
18	18540093	G	T	18	20960132	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.29091250311421E-5	0.022
18	18540094	T	A	18	20960133	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999955907695347	0.982
18	18540094	T	C	18	20960133	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998343830402312	0.9
18	18540094	T	G	18	20960133	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999918174997273	0.908
18	18540095	A	C	18	20960134	y	y	splicing	ROCK1(NM_005406:exon29:c.3423+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3423+2T>G)	.	.	0.999988247793601	0.93
18	18540095	A	G	18	20960134	y	y	splicing	ROCK1(NM_005406:exon29:c.3423+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3423+2T>C)	.	.	0.996218475494576	0.69
18	18540095	A	T	18	20960134	y	y	splicing	ROCK1(NM_005406:exon29:c.3423+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3423+2T>A)	.	.	0.999988247793601	0.93
18	18540096	C	A	18	20960135	y	y	splicing	ROCK1(NM_005406:exon29:c.3423+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3423+1G>T)	.	.	0.999989072007339	0.934
18	18540096	C	G	18	20960135	y	y	splicing	ROCK1(NM_005406:exon29:c.3423+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3423+1G>C)	.	.	0.999989072007339	0.934
18	18540096	C	T	18	20960135	y	y	splicing	ROCK1(NM_005406:exon29:c.3423+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3423+1G>A)	.	.	0.999989072007339	0.934
18	18540097	C	A	18	20960136	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.G3423T:p.Q1141H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.G3423T:p.Q1141H;	0.999994341619526	0.998
18	18540097	C	G	18	20960136	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.G3423C:p.Q1141H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.G3423C:p.Q1141H;	0.999996244686623	1.0
18	18540097	C	T	18	20960136	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon28:c.G3423A:p.Q1141Q;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.G3423A:p.Q1141Q;	0.99998420407202	0.996
18	18540098	T	A	18	20960137	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.A3422T:p.Q1141L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.A3422T:p.Q1141L;	0.999977405030903	0.994
18	18540098	T	C	18	20960137	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.A3422G:p.Q1141R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.A3422G:p.Q1141R;	0.99993358359566	0.99
18	18540098	T	G	18	20960137	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.A3422C:p.Q1141P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.A3422C:p.Q1141P;	0.999908297159436	0.998
18	18540099	G	A	18	20960138	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon28:c.C3421T:p.Q1141X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon28:c.C3421T:p.Q1141X;	0.999920436659781	0.992
18	18540099	G	C	18	20960138	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.C3421G:p.Q1141E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.C3421G:p.Q1141E;	0.909731737353317	0.706
18	18540099	G	T	18	20960138	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.C3421A:p.Q1141K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.C3421A:p.Q1141K;	0.557734899309797	0.374
18	18540166	C	A	18	20960205	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.G3354T:p.E1118D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.G3354T:p.E1118D;	1.57327150800392E-5	0.0
18	18540166	C	G	18	20960205	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.G3354C:p.E1118D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.G3354C:p.E1118D;	2.54510744352917E-5	0.0
18	18540166	C	T	18	20960205	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon28:c.G3354A:p.E1118E;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.G3354A:p.E1118E;	1.98310858462775E-5	0.004
18	18540167	T	A	18	20960206	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.A3353T:p.E1118V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.A3353T:p.E1118V;	0.331420194730097	0.438
18	18540167	T	C	18	20960206	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.A3353G:p.E1118G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.A3353G:p.E1118G;	0.779904687057855	0.614
18	18540167	T	G	18	20960206	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon28:c.A3353C:p.E1118A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon28:c.A3353C:p.E1118A;	0.215114477772357	0.362
18	18540168	C	A	18	20960207	y	y	splicing	ROCK1(NM_005406:exon29:c.3353-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3353-1G>T)	.	.	0.999990361384395	0.926
18	18540168	C	G	18	20960207	y	y	splicing	ROCK1(NM_005406:exon29:c.3353-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3353-1G>C)	.	.	0.999990361384395	0.926
18	18540168	C	T	18	20960207	y	y	splicing	ROCK1(NM_005406:exon29:c.3353-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3353-1G>A)	.	.	0.999990361384395	0.926
18	18540169	T	A	18	20960208	y	y	splicing	ROCK1(NM_005406:exon29:c.3353-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3353-2A>T)	.	.	0.999992446697775	0.928
18	18540169	T	C	18	20960208	y	y	splicing	ROCK1(NM_005406:exon29:c.3353-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3353-2A>G)	.	.	0.999992446697775	0.928
18	18540169	T	G	18	20960208	y	y	splicing	ROCK1(NM_005406:exon29:c.3353-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon29:c.3353-2A>C)	.	.	0.999992446697775	0.928
18	18540170	A	C	18	20960209	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.946108954166279	0.674
18	18540170	A	G	18	20960209	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.61118299083698E-5	0.0
18	18540170	A	T	18	20960209	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0119641015697868	0.176
18	18540171	G	A	18	20960210	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.53972483770462E-5	0.036
18	18540171	G	C	18	20960210	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.55224556091192E-5	0.04
18	18540171	G	T	18	20960210	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.94903728701409E-5	0.052
18	18540172	G	A	18	20960211	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.03417354121997E-6	0.0
18	18540172	G	C	18	20960211	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.70262954290086E-4	0.212
18	18540172	G	T	18	20960211	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.62135675191433E-5	0.006
18	18540173	A	C	18	20960212	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.50255969583179E-4	0.194
18	18540173	A	G	18	20960212	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.31380571452048E-5	0.054
18	18540173	A	T	18	20960212	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.03021766780951E-4	0.182
18	18540174	G	A	18	20960213	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.07879004925715E-5	0.022
18	18540174	G	C	18	20960213	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.9895452598749E-5	0.056
18	18540174	G	T	18	20960213	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.7863827574536E-5	0.076
18	18540175	A	C	18	20960214	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.85636339338985E-5	0.062
18	18540175	A	G	18	20960214	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.07266398150482E-4	0.024
18	18540175	A	T	18	20960214	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.22547928488609E-5	0.058
18	18540176	A	C	18	20960215	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.55412932532672E-4	0.128
18	18540176	A	G	18	20960215	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.33962617852099E-4	0.01
18	18540176	A	T	18	20960215	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.09763902268523E-4	0.124
18	18540177	A	C	18	20960216	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.34967631177333E-4	0.274
18	18540177	A	G	18	20960216	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.06070689192298E-4	0.004
18	18540177	A	T	18	20960216	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00107468068093126	0.21
18	18540178	A	C	18	20960217	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.95181142881238E-5	0.088
18	18540178	A	G	18	20960217	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.33653846891643E-5	0.002
18	18540178	A	T	18	20960217	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.60834098799173E-4	0.1
18	18540179	A	C	18	20960218	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.01685265351698E-4	0.078
18	18540179	A	G	18	20960218	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.87319329402798E-5	0.016
18	18540179	A	T	18	20960218	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.81883141526837E-4	0.104
18	18546870	A	C	18	20966909	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.89066721672276E-4	0.002
18	18546870	A	G	18	20966909	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.89066721672276E-4	0.006
18	18546870	A	T	18	20966909	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.89903870182886E-4	0.012
18	18546871	T	A	18	20966910	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.71242653242957E-5	0.0
18	18546871	T	C	18	20966910	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.75454583482967E-5	0.0
18	18546871	T	G	18	20966910	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.72841159385093E-5	0.0
18	18546872	T	A	18	20966911	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.3024436963506E-4	0.012
18	18546872	T	C	18	20966911	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.12994424714615E-4	0.002
18	18546872	T	G	18	20966911	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.22933437906651E-4	0.014
18	18546873	C	A	18	20966912	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.537266140872405	0.502
18	18546873	C	G	18	20966912	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.778752789843807	0.534
18	18546873	C	T	18	20966912	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.772608813841827	0.512
18	18546874	T	A	18	20966913	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.327024850981037	0.302
18	18546874	T	C	18	20966913	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.719792296683992	0.396
18	18546874	T	G	18	20966913	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.414491090493189	0.356
18	18546875	T	A	18	20966914	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996610322254345	0.904
18	18546875	T	C	18	20966914	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.177364669588814	0.288
18	18546875	T	G	18	20966914	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996182053835988	0.868
18	18546876	A	C	18	20966915	y	y	splicing	ROCK1(NM_005406:exon28:c.3352+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3352+2T>G)	.	.	0.999992446697775	0.93
18	18546876	A	G	18	20966915	y	y	splicing	ROCK1(NM_005406:exon28:c.3352+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3352+2T>C)	.	.	0.993808943985639	0.626
18	18546876	A	T	18	20966915	y	y	splicing	ROCK1(NM_005406:exon28:c.3352+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3352+2T>A)	.	.	0.999992446697775	0.93
18	18546877	C	A	18	20966916	y	y	splicing	ROCK1(NM_005406:exon28:c.3352+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3352+1G>T)	.	.	0.999988247793601	0.926
18	18546877	C	G	18	20966916	y	y	splicing	ROCK1(NM_005406:exon28:c.3352+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3352+1G>C)	.	.	0.999988247793601	0.926
18	18546877	C	T	18	20966916	y	y	splicing	ROCK1(NM_005406:exon28:c.3352+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3352+1G>A)	.	.	0.999988247793601	0.926
18	18546878	C	A	18	20966917	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon27:c.G3352T:p.E1118X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon27:c.G3352T:p.E1118X;	0.999758876302528	0.962
18	18546878	C	G	18	20966917	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.G3352C:p.E1118Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.G3352C:p.E1118Q;	0.999970363694936	0.964
18	18546878	C	T	18	20966917	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.G3352A:p.E1118K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.G3352A:p.E1118K;	0.999960499753802	0.988
18	18546879	T	A	18	20966918	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon27:c.A3351T:p.P1117P;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.A3351T:p.P1117P;	0.74099456657252	0.528
18	18546879	T	C	18	20966918	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon27:c.A3351G:p.P1117P;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.A3351G:p.P1117P;	0.52053188943526	0.508
18	18546879	T	G	18	20966918	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon27:c.A3351C:p.P1117P;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.A3351C:p.P1117P;	0.563587862972484	0.586
18	18546880	G	A	18	20966919	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.C3350T:p.P1117L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.C3350T:p.P1117L;	0.995436020788011	0.608
18	18546880	G	C	18	20966919	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.C3350G:p.P1117R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.C3350G:p.P1117R;	0.885621931057342	0.58
18	18546880	G	T	18	20966919	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.C3350A:p.P1117Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.C3350A:p.P1117Q;	0.734392673048286	0.56
18	18547036	T	A	18	20967075	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.A3194T:p.Q1065L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.A3194T:p.Q1065L;	6.46529693751721E-5	0.026
18	18547036	T	C	18	20967075	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.A3194G:p.Q1065R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.A3194G:p.Q1065R;	2.60109036374845E-4	0.068
18	18547036	T	G	18	20967075	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.A3194C:p.Q1065P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.A3194C:p.Q1065P;	0.00321415273850398	0.062
18	18547037	G	A	18	20967076	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon27:c.C3193T:p.Q1065X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon27:c.C3193T:p.Q1065X;	0.343125040114943	0.608
18	18547037	G	C	18	20967076	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.C3193G:p.Q1065E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.C3193G:p.Q1065E;	2.44076426962211E-4	0.104
18	18547037	G	T	18	20967076	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon27:c.C3193A:p.Q1065K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon27:c.C3193A:p.Q1065K;	8.00075738568777E-4	0.186
18	18547038	C	A	18	20967077	y	y	splicing	ROCK1(NM_005406:exon28:c.3193-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3193-1G>T)	.	.	0.999967333810793	0.854
18	18547038	C	G	18	20967077	y	y	splicing	ROCK1(NM_005406:exon28:c.3193-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3193-1G>C)	.	.	0.999967333810793	0.866
18	18547038	C	T	18	20967077	y	y	splicing	ROCK1(NM_005406:exon28:c.3193-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3193-1G>A)	.	.	0.999967333810793	0.852
18	18547039	T	A	18	20967078	y	y	splicing	ROCK1(NM_005406:exon28:c.3193-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3193-2A>T)	.	.	0.999939162172471	0.89
18	18547039	T	C	18	20967078	y	y	splicing	ROCK1(NM_005406:exon28:c.3193-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3193-2A>G)	.	.	0.999939162172471	0.896
18	18547039	T	G	18	20967078	y	y	splicing	ROCK1(NM_005406:exon28:c.3193-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon28:c.3193-2A>C)	.	.	0.999939162172471	0.896
18	18547040	A	C	18	20967079	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.134105602413968	0.514
18	18547040	A	G	18	20967079	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.59148430564546E-5	0.006
18	18547040	A	T	18	20967079	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.018365331218524	0.32
18	18547041	A	C	18	20967080	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.869982999744424	0.948
18	18547041	A	G	18	20967080	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.59780878301449E-5	0.012
18	18547041	A	T	18	20967080	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.02002980100986E-5	0.002
18	18547042	T	A	18	20967081	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00474381861041041	0.124
18	18547042	T	C	18	20967081	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999399807978712	0.926
18	18547042	T	G	18	20967081	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00166539211034196	0.054
18	18547043	T	A	18	20967082	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.88404144051662E-4	0.02
18	18547043	T	C	18	20967082	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999662158575651	0.974
18	18547043	T	G	18	20967082	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.51902913522198E-4	0.142
18	18547044	T	A	18	20967083	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00173827377300612	0.046
18	18547044	T	C	18	20967083	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999091238898272	0.876
18	18547044	T	G	18	20967083	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0015910796386789	0.032
18	18547045	T	A	18	20967084	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.63410245159577E-4	0.04
18	18547045	T	C	18	20967084	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00139785657104586	0.044
18	18547045	T	G	18	20967084	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.17489478984537E-4	0.014
18	18547046	G	A	18	20967085	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.14723691489847E-5	0.04
18	18547046	G	C	18	20967085	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00671906883082413	0.12
18	18547046	G	T	18	20967085	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00543911619590294	0.148
18	18547047	A	C	18	20967086	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.113269959476293	0.538
18	18547047	A	G	18	20967086	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.51515596146294E-4	0.052
18	18547047	A	T	18	20967086	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.180456380768592	0.55
18	18547048	A	C	18	20967087	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.234096396740065	0.422
18	18547048	A	G	18	20967087	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.72706333583114E-4	0.146
18	18547048	A	T	18	20967087	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.681362322626917	0.48
18	18547049	A	C	18	20967088	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0307924803563709	0.466
18	18547049	A	G	18	20967088	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00387936844489178	0.172
18	18547049	A	T	18	20967088	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.839215388054016	0.738
18	18547705	A	C	18	20967744	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.02443692669421E-4	0.0
18	18547705	A	G	18	20967744	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.02443692669421E-4	0.0
18	18547705	A	T	18	20967744	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.95048232548605E-4	0.002
18	18547706	A	C	18	20967745	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.63148711697183E-5	0.0
18	18547706	A	G	18	20967745	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.63148711697183E-5	0.0
18	18547706	A	T	18	20967745	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.76041196129668E-5	0.0
18	18547707	C	A	18	20967746	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.47318121256025E-5	0.0
18	18547707	C	G	18	20967746	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.29633697096395E-5	0.0
18	18547707	C	T	18	20967746	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.69186884106545E-5	0.002
18	18547708	C	A	18	20967747	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999349715843398	0.912
18	18547708	C	G	18	20967747	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.991102757948199	0.826
18	18547708	C	T	18	20967747	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999836968219614	0.936
18	18547709	T	A	18	20967748	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.737709300009308	0.474
18	18547709	T	C	18	20967748	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.91792025823455	0.666
18	18547709	T	G	18	20967748	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.430122693686553	0.404
18	18547710	T	A	18	20967749	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999836568201082	0.98
18	18547710	T	C	18	20967749	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.872938918832201	0.516
18	18547710	T	G	18	20967749	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999746606049277	0.912
18	18547711	A	C	18	20967750	y	y	splicing	ROCK1(NM_005406:exon27:c.3192+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3192+2T>G)	.	.	0.999989917668626	0.926
18	18547711	A	G	18	20967750	y	y	splicing	ROCK1(NM_005406:exon27:c.3192+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3192+2T>C)	.	.	0.999941273443095	0.9
18	18547711	A	T	18	20967750	y	y	splicing	ROCK1(NM_005406:exon27:c.3192+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3192+2T>A)	.	.	0.999989917668626	0.926
18	18547712	C	A	18	20967751	y	y	splicing	ROCK1(NM_005406:exon27:c.3192+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3192+1G>T)	.	.	0.999986675681007	0.94
18	18547712	C	G	18	20967751	y	y	splicing	ROCK1(NM_005406:exon27:c.3192+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3192+1G>C)	.	.	0.999986675681007	0.94
18	18547712	C	T	18	20967751	y	y	splicing	ROCK1(NM_005406:exon27:c.3192+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3192+1G>A)	.	.	0.999986675681007	0.94
18	18547713	C	A	18	20967752	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon26:c.G3192T:p.A1064A;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3192T:p.A1064A;	0.999925862870323	0.99
18	18547713	C	G	18	20967752	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon26:c.G3192C:p.A1064A;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3192C:p.A1064A;	0.999987178743716	0.97
18	18547713	C	T	18	20967752	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon26:c.G3192A:p.A1064A;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3192A:p.A1064A;	0.99979637235913	0.994
18	18547714	G	A	18	20967753	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.C3191T:p.A1064V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.C3191T:p.A1064V;	0.992832025505718	0.878
18	18547714	G	C	18	20967753	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.C3191G:p.A1064G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.C3191G:p.A1064G;	0.992776288781926	0.856
18	18547714	G	T	18	20967753	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.C3191A:p.A1064E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.C3191A:p.A1064E;	0.950482793858615	0.704
18	18547715	C	A	18	20967754	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.G3190T:p.A1064S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3190T:p.A1064S;	0.966400515515512	0.75
18	18547715	C	G	18	20967754	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.G3190C:p.A1064P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3190C:p.A1064P;	0.931657679589572	0.77
18	18547715	C	T	18	20967754	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.G3190A:p.A1064T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3190A:p.A1064T;	0.931657679589572	0.77
18	18547900	G	A	18	20967939	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.C3005T:p.A1002V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.C3005T:p.A1002V;	0.986293960403713	0.874
18	18547900	G	C	18	20967939	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.C3005G:p.A1002G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.C3005G:p.A1002G;	0.965897261505052	0.718
18	18547900	G	T	18	20967939	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.C3005A:p.A1002D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.C3005A:p.A1002D;	0.98156742816224	0.748
18	18547901	C	A	18	20967940	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.G3004T:p.A1002S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3004T:p.A1002S;	0.999940635853024	0.984
18	18547901	C	G	18	20967940	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.G3004C:p.A1002P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3004C:p.A1002P;	0.99988984333694	0.96
18	18547901	C	T	18	20967940	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon26:c.G3004A:p.A1002T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon26:c.G3004A:p.A1002T;	0.999545090854246	0.948
18	18547902	C	A	18	20967941	y	y	splicing	ROCK1(NM_005406:exon27:c.3004-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3004-1G>T)	.	.	0.999989861467635	0.922
18	18547902	C	G	18	20967941	y	y	splicing	ROCK1(NM_005406:exon27:c.3004-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3004-1G>C)	.	.	0.999989861467635	0.922
18	18547902	C	T	18	20967941	y	y	splicing	ROCK1(NM_005406:exon27:c.3004-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3004-1G>A)	.	.	0.999989861467635	0.922
18	18547903	T	A	18	20967942	y	y	splicing	ROCK1(NM_005406:exon27:c.3004-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3004-2A>T)	.	.	0.999992328316083	0.922
18	18547903	T	C	18	20967942	y	y	splicing	ROCK1(NM_005406:exon27:c.3004-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3004-2A>G)	.	.	0.999992328316083	0.92
18	18547903	T	G	18	20967942	y	y	splicing	ROCK1(NM_005406:exon27:c.3004-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon27:c.3004-2A>C)	.	.	0.999992328316083	0.92
18	18547904	A	C	18	20967943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.952219802272498	0.662
18	18547904	A	G	18	20967943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.14434910226244E-5	0.068
18	18547904	A	T	18	20967943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0544519455799638	0.352
18	18547905	T	A	18	20967944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00809420138467076	0.18
18	18547905	T	C	18	20967944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999669856155006	0.96
18	18547905	T	G	18	20967944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00209552332074071	0.076
18	18547906	T	A	18	20967945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.00398310181639E-5	0.04
18	18547906	T	C	18	20967945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.43095345030387E-4	0.046
18	18547906	T	G	18	20967945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.4080081630222E-5	0.004
18	18547907	A	C	18	20967946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00477611523113847	0.228
18	18547907	A	G	18	20967946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.3652512353348E-5	0.074
18	18547907	A	T	18	20967946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00257250054218538	0.268
18	18547908	A	C	18	20967947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.787393020095337	0.59
18	18547908	A	G	18	20967947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.96067277557121E-4	0.064
18	18547908	A	T	18	20967947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.94071347600416	0.776
18	18547909	A	C	18	20967948	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.464744836381104	0.702
18	18547909	A	G	18	20967948	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.72035848013195E-4	0.014
18	18547909	A	T	18	20967948	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.682526592161759	0.714
18	18547910	A	C	18	20967949	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999934916784886	0.924
18	18547910	A	G	18	20967949	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.9446819747025E-4	0.096
18	18547910	A	T	18	20967949	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.510835424444917	0.48
18	18547911	T	A	18	20967950	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.8182818258678E-4	0.192
18	18547911	T	C	18	20967950	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.8634824824088E-4	0.142
18	18547911	T	G	18	20967950	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.66082115988322E-4	0.158
18	18547912	A	C	18	20967951	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999895570210811	0.882
18	18547912	A	G	18	20967951	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0245185344090248	0.296
18	18547912	A	T	18	20967951	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.915101512698576	0.708
18	18547913	T	A	18	20967952	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.47681085962877E-5	0.012
18	18547913	T	C	18	20967952	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.986956352946368	0.938
18	18547913	T	G	18	20967952	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.43003414005279E-5	0.022
18	18548725	A	C	18	20968764	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.126985963288114	0.518
18	18548725	A	G	18	20968764	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.126985963288114	0.514
18	18548725	A	T	18	20968764	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.359772310501113	0.546
18	18548726	T	A	18	20968765	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.08700816124083E-4	0.004
18	18548726	T	C	18	20968765	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.28913301905697E-5	0.004
18	18548726	T	G	18	20968765	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.63552054837887E-4	0.006
18	18548727	G	A	18	20968766	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.51811592744097E-5	0.002
18	18548727	G	C	18	20968766	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.12276276363407E-5	0.014
18	18548727	G	T	18	20968766	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.48727601875549E-4	0.016
18	18548728	T	A	18	20968767	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.72808397167349E-4	0.018
18	18548728	T	C	18	20968767	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.36455691120039E-5	0.02
18	18548728	T	G	18	20968767	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.40361756165429E-4	0.026
18	18548729	A	C	18	20968768	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.04619189465246E-4	0.008
18	18548729	A	G	18	20968768	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0031667251159899	0.1
18	18548729	A	T	18	20968768	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.51004574822572E-4	0.03
18	18548730	T	A	18	20968769	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999970140074465	0.964
18	18548730	T	C	18	20968769	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998527459062913	0.918
18	18548730	T	G	18	20968769	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999943920364935	0.96
18	18548731	A	C	18	20968770	y	y	splicing	ROCK1(NM_005406:exon26:c.3003+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.3003+2T>G)	.	.	0.999992752818502	0.928
18	18548731	A	G	18	20968770	y	y	splicing	ROCK1(NM_005406:exon26:c.3003+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.3003+2T>C)	.	.	0.992019297660769	0.622
18	18548731	A	T	18	20968770	y	y	splicing	ROCK1(NM_005406:exon26:c.3003+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.3003+2T>A)	.	.	0.999992752818502	0.928
18	18548732	C	A	18	20968771	y	y	splicing	ROCK1(NM_005406:exon26:c.3003+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.3003+1G>T)	.	.	0.999981760802075	0.938
18	18548732	C	G	18	20968771	y	y	splicing	ROCK1(NM_005406:exon26:c.3003+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.3003+1G>C)	.	.	0.999981760802075	0.938
18	18548732	C	T	18	20968771	y	y	splicing	ROCK1(NM_005406:exon26:c.3003+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.3003+1G>A)	.	.	0.999981760802075	0.938
18	18548733	C	A	18	20968772	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.G3003T:p.Q1001H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.G3003T:p.Q1001H;	0.999991042753884	0.988
18	18548733	C	G	18	20968772	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.G3003C:p.Q1001H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.G3003C:p.Q1001H;	0.99999675263713	1.0
18	18548733	C	T	18	20968772	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon25:c.G3003A:p.Q1001Q;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.G3003A:p.Q1001Q;	0.999958355002688	0.996
18	18548734	T	A	18	20968773	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.A3002T:p.Q1001L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A3002T:p.Q1001L;	0.999959579499554	0.994
18	18548734	T	C	18	20968773	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.A3002G:p.Q1001R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A3002G:p.Q1001R;	0.999937194727769	0.984
18	18548734	T	G	18	20968773	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.A3002C:p.Q1001P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A3002C:p.Q1001P;	0.999931600519279	0.996
18	18548735	G	A	18	20968774	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon25:c.C3001T:p.Q1001X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon25:c.C3001T:p.Q1001X;	0.999668932402316	0.972
18	18548735	G	C	18	20968774	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.C3001G:p.Q1001E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.C3001G:p.Q1001E;	0.866206454511262	0.66
18	18548735	G	T	18	20968774	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.C3001A:p.Q1001K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.C3001A:p.Q1001K;	0.774658577205027	0.756
18	18548820	T	A	18	20968859	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.A2916T:p.E972D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A2916T:p.E972D;	1.02057688365648E-4	0.032
18	18548820	T	C	18	20968859	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon25:c.A2916G:p.E972E;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A2916G:p.E972E;	4.77275142307176E-5	0.014
18	18548820	T	G	18	20968859	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.A2916C:p.E972D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A2916C:p.E972D;	2.88995505809313E-4	0.02
18	18548821	T	A	18	20968860	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.A2915T:p.E972V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A2915T:p.E972V;	0.490547289613428	0.488
18	18548821	T	C	18	20968860	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.A2915G:p.E972G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A2915G:p.E972G;	0.0540515651102977	0.342
18	18548821	T	G	18	20968860	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon25:c.A2915C:p.E972A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon25:c.A2915C:p.E972A;	0.302468711917034	0.476
18	18548822	C	A	18	20968861	y	y	splicing	ROCK1(NM_005406:exon26:c.2915-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.2915-1G>T)	.	.	0.999904904668062	0.942
18	18548822	C	G	18	20968861	y	y	splicing	ROCK1(NM_005406:exon26:c.2915-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.2915-1G>C)	.	.	0.999904904668062	0.946
18	18548822	C	T	18	20968861	y	y	splicing	ROCK1(NM_005406:exon26:c.2915-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.2915-1G>A)	.	.	0.999904904668062	0.944
18	18548823	T	A	18	20968862	y	y	splicing	ROCK1(NM_005406:exon26:c.2915-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.2915-2A>T)	.	.	0.999991823630654	0.94
18	18548823	T	C	18	20968862	y	y	splicing	ROCK1(NM_005406:exon26:c.2915-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.2915-2A>G)	.	.	0.9999893788829	0.938
18	18548823	T	G	18	20968862	y	y	splicing	ROCK1(NM_005406:exon26:c.2915-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon26:c.2915-2A>C)	.	.	0.9999893788829	0.938
18	18548824	G	A	18	20968863	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0576256912567453	0.214
18	18548824	G	C	18	20968863	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999700539598264	0.818
18	18548824	G	T	18	20968863	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999239103601072	0.936
18	18548825	T	A	18	20968864	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.14525646643408E-4	0.014
18	18548825	T	C	18	20968864	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.56423663876853E-5	0.032
18	18548825	T	G	18	20968864	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.89604738964401E-4	0.066
18	18548826	C	A	18	20968865	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.92565891656246E-5	0.01
18	18548826	C	G	18	20968865	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.95533669465696E-5	0.002
18	18548826	C	T	18	20968865	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.09974862734042E-5	0.0
18	18548827	A	C	18	20968866	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00493748903858715	0.238
18	18548827	A	G	18	20968866	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.89347820116891E-5	0.022
18	18548827	A	T	18	20968866	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.9995537881515	0.97
18	18548828	A	C	18	20968867	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0473221200387247	0.33
18	18548828	A	G	18	20968867	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.24266267027355E-4	0.022
18	18548828	A	T	18	20968867	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.837000619250934	0.576
18	18548829	C	A	18	20968868	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.57224415015791E-5	0.04
18	18548829	C	G	18	20968868	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.20205207055138E-5	0.03
18	18548829	C	T	18	20968868	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.81322992529463E-5	0.114
18	18548830	A	C	18	20968869	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00768762433156602	0.35
18	18548830	A	G	18	20968869	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.53404004687129E-4	0.024
18	18548830	A	T	18	20968869	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999919463730823	0.978
18	18548831	A	C	18	20968870	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.160089536028083	0.574
18	18548831	A	G	18	20968870	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0011233211734943	0.08
18	18548831	A	T	18	20968870	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.351709490469875	0.456
18	18548832	A	C	18	20968871	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999950191823898	0.948
18	18548832	A	G	18	20968871	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.104345379643479	0.328
18	18548832	A	T	18	20968871	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.202260374761742	0.436
18	18548833	T	A	18	20968872	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.33662816725906E-5	0.03
18	18548833	T	C	18	20968872	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.945912408200495	0.974
18	18548833	T	G	18	20968872	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.17307912661487E-5	0.03
18	18549068	C	A	18	20969107	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.70213662992488E-5	0.012
18	18549068	C	G	18	20969107	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.70213662992488E-5	0.01
18	18549068	C	T	18	20969107	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.7421382942326E-5	0.014
18	18549069	T	A	18	20969108	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.97059547748155E-5	0.044
18	18549069	T	C	18	20969108	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.53747575447904E-5	0.034
18	18549069	T	G	18	20969108	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.07738382462116E-5	0.072
18	18549070	A	C	18	20969109	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0212334478474662	0.27
18	18549070	A	G	18	20969109	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0242398970818734	0.342
18	18549070	A	T	18	20969109	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0446418085128043	0.304
18	18549071	C	A	18	20969110	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.596154338913424	0.588
18	18549071	C	G	18	20969110	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.673424841783174	0.57
18	18549071	C	T	18	20969110	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.653619743978882	0.518
18	18549072	A	C	18	20969111	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.47367733680455E-5	0.01
18	18549072	A	G	18	20969111	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00103508629123249	0.026
18	18549072	A	T	18	20969111	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.03574657596433E-4	0.022
18	18549073	T	A	18	20969112	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.82683526008096	0.572
18	18549073	T	C	18	20969112	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.574453202635363	0.704
18	18549073	T	G	18	20969112	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998274384663185	0.824
18	18549074	A	C	18	20969113	y	y	splicing	ROCK1(NM_005406:exon25:c.2914+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2914+2T>G)	.	.	0.999988247793601	0.928
18	18549074	A	G	18	20969113	y	y	splicing	ROCK1(NM_005406:exon25:c.2914+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2914+2T>C)	.	.	0.988163425542712	0.656
18	18549074	A	T	18	20969113	y	y	splicing	ROCK1(NM_005406:exon25:c.2914+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2914+2T>A)	.	.	0.999988247793601	0.93
18	18549075	C	A	18	20969114	y	y	splicing	ROCK1(NM_005406:exon25:c.2914+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2914+1G>T)	.	.	0.999990361384395	0.938
18	18549075	C	G	18	20969114	y	y	splicing	ROCK1(NM_005406:exon25:c.2914+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2914+1G>C)	.	.	0.999990361384395	0.936
18	18549075	C	T	18	20969114	y	y	splicing	ROCK1(NM_005406:exon25:c.2914+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2914+1G>A)	.	.	0.999990361384395	0.938
18	18549076	C	A	18	20969115	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon24:c.G2914T:p.E972X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon24:c.G2914T:p.E972X;	0.999950207577689	0.982
18	18549076	C	G	18	20969115	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.G2914C:p.E972Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.G2914C:p.E972Q;	0.986307126664903	0.764
18	18549076	C	T	18	20969115	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.G2914A:p.E972K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.G2914A:p.E972K;	0.999708589289451	0.978
18	18549077	T	A	18	20969116	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.A2913T:p.E971D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.A2913T:p.E971D;	0.998139359633158	0.956
18	18549077	T	C	18	20969116	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon24:c.A2913G:p.E971E;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.A2913G:p.E971E;	0.734077941093019	0.674
18	18549077	T	G	18	20969116	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.A2913C:p.E971D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.A2913C:p.E971D;	0.989361023666528	0.954
18	18549078	T	A	18	20969117	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.A2912T:p.E971V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.A2912T:p.E971V;	0.953591191563905	0.626
18	18549078	T	C	18	20969117	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.A2912G:p.E971G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.A2912G:p.E971G;	0.307614116599709	0.472
18	18549078	T	G	18	20969117	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.A2912C:p.E971A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.A2912C:p.E971A;	0.734770176255296	0.58
18	18549168	A	C	18	20969207	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.T2822G:p.L941R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.T2822G:p.L941R;	0.923062709638041	0.496
18	18549168	A	G	18	20969207	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.T2822C:p.L941P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.T2822C:p.L941P;	0.929835731027816	0.412
18	18549168	A	T	18	20969207	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.T2822A:p.L941H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.T2822A:p.L941H;	0.924054014602935	0.496
18	18549169	G	A	18	20969208	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.C2821T:p.L941F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.C2821T:p.L941F;	0.995256118404189	0.918
18	18549169	G	C	18	20969208	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.C2821G:p.L941V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.C2821G:p.L941V;	0.972472509510035	0.602
18	18549169	G	T	18	20969208	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.C2821A:p.L941I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon24:c.C2821A:p.L941I;	0.971160339971748	0.714
18	18549170	C	A	18	20969209	y	y	splicing	ROCK1(NM_005406:exon25:c.2821-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2821-1G>T)	.	.	0.999990361384395	0.936
18	18549170	C	G	18	20969209	y	y	splicing	ROCK1(NM_005406:exon25:c.2821-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2821-1G>C)	.	.	0.999990361384395	0.936
18	18549170	C	T	18	20969209	y	y	splicing	ROCK1(NM_005406:exon25:c.2821-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2821-1G>A)	.	.	0.999990361384395	0.936
18	18549171	T	A	18	20969210	y	y	splicing	ROCK1(NM_005406:exon25:c.2821-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2821-2A>T)	.	.	0.99994568797423	0.926
18	18549171	T	C	18	20969210	y	y	splicing	ROCK1(NM_005406:exon25:c.2821-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2821-2A>G)	.	.	0.99994568797423	0.93
18	18549171	T	G	18	20969210	y	y	splicing	ROCK1(NM_005406:exon25:c.2821-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon25:c.2821-2A>C)	.	.	0.99994568797423	0.93
18	18549172	A	C	18	20969211	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.651181234136669	0.668
18	18549172	A	G	18	20969211	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.61569767055946E-5	0.006
18	18549172	A	T	18	20969211	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00378544647742675	0.216
18	18549173	A	C	18	20969212	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00764057638729147	0.116
18	18549173	A	G	18	20969212	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0030058633127711	0.086
18	18549173	A	T	18	20969212	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0014454295362149	0.054
18	18549174	A	C	18	20969213	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.982201157976991	0.57
18	18549174	A	G	18	20969213	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0185143067315091	0.214
18	18549174	A	T	18	20969213	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.84476825353653	0.556
18	18549175	C	A	18	20969214	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.41175924049376E-5	0.01
18	18549175	C	G	18	20969214	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.72927267416608E-5	0.002
18	18549175	C	T	18	20969214	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.73978547595035E-5	0.002
18	18549176	A	C	18	20969215	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0121223473446865	0.166
18	18549176	A	G	18	20969215	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.73356478218695E-5	0.03
18	18549176	A	T	18	20969215	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998432262267882	0.972
18	18549177	A	C	18	20969216	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00829263399227076	0.408
18	18549177	A	G	18	20969216	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.4638457845263E-4	0.08
18	18549177	A	T	18	20969216	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.532629200671324	0.47
18	18549178	A	C	18	20969217	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0253458124227672	0.408
18	18549178	A	G	18	20969217	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.86699081805271E-4	0.008
18	18549178	A	T	18	20969217	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0529764778711895	0.438
18	18549179	G	A	18	20969218	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.57190325827213E-5	0.0
18	18549179	G	C	18	20969218	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.91050035343516E-4	0.012
18	18549179	G	T	18	20969218	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.51930413428252E-5	0.016
18	18549180	C	A	18	20969219	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.28062871402175E-4	0.1
18	18549180	C	G	18	20969219	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.09531773022763E-5	0.004
18	18549180	C	T	18	20969219	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0024329414126968	0.248
18	18549181	A	C	18	20969220	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.520369846978476	0.542
18	18549181	A	G	18	20969220	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.42319989290811E-4	0.12
18	18549181	A	T	18	20969220	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999963335815459	0.952
18	18550301	A	C	18	20970340	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.93448120969352E-5	0.0
18	18550301	A	G	18	20970340	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.32946102950163E-5	0.0
18	18550301	A	T	18	20970340	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.10210325536339E-5	0.002
18	18550302	C	A	18	20970341	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00593551523835079	0.008
18	18550302	C	G	18	20970341	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00593551523835079	0.018
18	18550302	C	T	18	20970341	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00593551523835079	0.02
18	18550303	A	C	18	20970342	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.239225269302322	0.246
18	18550303	A	G	18	20970342	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.45721095647768	0.432
18	18550303	A	T	18	20970342	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.462317890897349	0.398
18	18550304	C	A	18	20970343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995978971682884	0.856
18	18550304	C	G	18	20970343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.994296917546565	0.894
18	18550304	C	T	18	20970343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999434633936378	0.87
18	18550305	T	A	18	20970344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.942483441137796	0.638
18	18550305	T	C	18	20970344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.974469782415225	0.678
18	18550305	T	G	18	20970344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.888356158370748	0.618
18	18550306	T	A	18	20970345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.990737172153467	0.86
18	18550306	T	C	18	20970345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.134906435878865	0.198
18	18550306	T	G	18	20970345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993768561615737	0.886
18	18550307	A	C	18	20970346	y	y	splicing	ROCK1(NM_005406:exon24:c.2820+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2820+2T>G)	.	.	0.999989917668626	0.928
18	18550307	A	G	18	20970346	y	y	splicing	ROCK1(NM_005406:exon24:c.2820+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2820+2T>C)	.	.	0.991781671885672	0.604
18	18550307	A	T	18	20970346	y	y	splicing	ROCK1(NM_005406:exon24:c.2820+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2820+2T>A)	.	.	0.999989917668626	0.928
18	18550308	C	A	18	20970347	y	y	splicing	ROCK1(NM_005406:exon24:c.2820+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2820+1G>T)	.	.	0.999986675681007	0.934
18	18550308	C	G	18	20970347	y	y	splicing	ROCK1(NM_005406:exon24:c.2820+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2820+1G>C)	.	.	0.999986675681007	0.934
18	18550308	C	T	18	20970347	y	y	splicing	ROCK1(NM_005406:exon24:c.2820+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2820+1G>A)	.	.	0.999986675681007	0.934
18	18550309	C	A	18	20970348	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon23:c.G2820T:p.R940R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.G2820T:p.R940R;	0.75776404239044	0.676
18	18550309	C	G	18	20970348	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon23:c.G2820C:p.R940R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.G2820C:p.R940R;	0.946673155999231	0.698
18	18550309	C	T	18	20970348	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon23:c.G2820A:p.R940R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.G2820A:p.R940R;	0.542227706609623	0.58
18	18550310	C	A	18	20970349	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.G2819T:p.R940L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.G2819T:p.R940L;	0.0124347466519149	0.07
18	18550310	C	G	18	20970349	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.G2819C:p.R940P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.G2819C:p.R940P;	0.0107558780907023	0.08
18	18550310	C	T	18	20970349	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.G2819A:p.R940Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.G2819A:p.R940Q;	0.00211688305611829	0.096
18	18550311	G	A	18	20970350	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.C2818T:p.R940W;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.C2818T:p.R940W;	0.993101375456075	0.604
18	18550311	G	C	18	20970350	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.C2818G:p.R940G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.C2818G:p.R940G;	0.0412743821803414	0.242
18	18550311	G	T	18	20970350	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon23:c.C2818A:p.R940R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.C2818A:p.R940R;	0.0130021671306009	0.086
18	18550473	C	A	18	20970512	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon23:c.G2656T:p.E886X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon23:c.G2656T:p.E886X;	0.983855417755641	0.912
18	18550473	C	G	18	20970512	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.G2656C:p.E886Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.G2656C:p.E886Q;	0.962092160916848	0.666
18	18550473	C	T	18	20970512	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.G2656A:p.E886K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.G2656A:p.E886K;	0.951833423096223	0.632
18	18550474	T	A	18	20970513	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.A2655T:p.K885N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.A2655T:p.K885N;	1.01040302518733E-4	0.17
18	18550474	T	C	18	20970513	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon23:c.A2655G:p.K885K;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.A2655G:p.K885K;	5.18830164704747E-5	0.026
18	18550474	T	G	18	20970513	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon23:c.A2655C:p.K885N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon23:c.A2655C:p.K885N;	9.84719712533507E-6	0.114
18	18550475	C	A	18	20970514	y	y	splicing	ROCK1(NM_005406:exon24:c.2655-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2655-1G>T)	.	.	0.999983347500877	0.886
18	18550475	C	G	18	20970514	y	y	splicing	ROCK1(NM_005406:exon24:c.2655-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2655-1G>C)	.	.	0.999983347500877	0.886
18	18550475	C	T	18	20970514	y	y	splicing	ROCK1(NM_005406:exon24:c.2655-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2655-1G>A)	.	.	0.999983347500877	0.886
18	18550476	T	A	18	20970515	y	y	splicing	ROCK1(NM_005406:exon24:c.2655-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2655-2A>T)	.	.	0.99994515364607	0.888
18	18550476	T	C	18	20970515	y	y	splicing	ROCK1(NM_005406:exon24:c.2655-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2655-2A>G)	.	.	0.99994515364607	0.888
18	18550476	T	G	18	20970515	y	y	splicing	ROCK1(NM_005406:exon24:c.2655-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon24:c.2655-2A>C)	.	.	0.99994515364607	0.888
18	18550477	G	A	18	20970516	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00339472706510398	0.36
18	18550477	G	C	18	20970516	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999066584306599	0.782
18	18550477	G	T	18	20970516	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.992001311820482	0.844
18	18550478	C	A	18	20970517	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.77545185446294E-5	0.0
18	18550478	C	G	18	20970517	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.82056976664866E-5	0.022
18	18550478	C	T	18	20970517	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.09711502859403E-5	0.018
18	18550479	A	C	18	20970518	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.871203417796819	0.652
18	18550479	A	G	18	20970518	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0074244827346403	0.202
18	18550479	A	T	18	20970518	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999591729174723	0.906
18	18550480	A	C	18	20970519	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.481576910505633	0.67
18	18550480	A	G	18	20970519	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.59121257528117E-4	0.018
18	18550480	A	T	18	20970519	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.551145206317019	0.678
18	18550481	C	A	18	20970520	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.16324467773357E-6	0.022
18	18550481	C	G	18	20970520	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.7526278254143E-5	0.0
18	18550481	C	T	18	20970520	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.24696048097262E-5	0.004
18	18550482	A	C	18	20970521	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.632308032543361	0.64
18	18550482	A	G	18	20970521	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.77462141464858E-4	0.042
18	18550482	A	T	18	20970521	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999427844057052	0.962
18	18550483	A	C	18	20970522	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.92541433716108	0.768
18	18550483	A	G	18	20970522	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.42641888696834E-5	0.01
18	18550483	A	T	18	20970522	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.91069207273016E-4	0.224
18	18550484	T	A	18	20970523	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.20907050521518E-5	0.012
18	18550484	T	C	18	20970523	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.984013861946653	0.966
18	18550484	T	G	18	20970523	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.28567457438241E-5	0.014
18	18550485	T	A	18	20970524	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.35077001185001E-4	0.114
18	18550485	T	C	18	20970524	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998009217686059	0.946
18	18550485	T	G	18	20970524	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.72060888305101E-4	0.006
18	18550486	T	A	18	20970525	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.02984377726223E-6	0.012
18	18550486	T	C	18	20970525	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.96653035536396	0.966
18	18550486	T	G	18	20970525	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.98211080784609E-6	0.004
18	18559863	G	A	18	20979902	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.65202750956571E-5	0.0
18	18559863	G	C	18	20979902	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.05212653813077E-4	0.184
18	18559863	G	T	18	20979902	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.41652354906585E-5	0.016
18	18559864	G	A	18	20979903	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.75137658434067E-4	0.076
18	18559864	G	C	18	20979903	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.32986577549778E-4	0.004
18	18559864	G	T	18	20979903	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.98314278500124E-5	0.006
18	18559865	A	C	18	20979904	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.994272356552565	0.928
18	18559865	A	G	18	20979904	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.962792543093432	0.852
18	18559865	A	T	18	20979904	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.991911208587549	0.798
18	18559866	C	A	18	20979905	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999956557672668	0.992
18	18559866	C	G	18	20979905	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999971660680869	0.986
18	18559866	C	T	18	20979905	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999954027383839	1.0
18	18559867	A	C	18	20979906	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00550384554411544	0.118
18	18559867	A	G	18	20979906	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.122622211517057	0.366
18	18559867	A	T	18	20979906	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0110652745662821	0.166
18	18559868	T	A	18	20979907	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999907014074721	0.97
18	18559868	T	C	18	20979907	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997443886079326	0.942
18	18559868	T	G	18	20979907	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999842882126159	0.966
18	18559869	A	C	18	20979908	y	y	splicing	ROCK1(NM_005406:exon23:c.2654+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2654+2T>G)	.	.	0.999988247793601	0.928
18	18559869	A	G	18	20979908	y	y	splicing	ROCK1(NM_005406:exon23:c.2654+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2654+2T>C)	.	.	0.992054276455321	0.628
18	18559869	A	T	18	20979908	y	y	splicing	ROCK1(NM_005406:exon23:c.2654+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2654+2T>A)	.	.	0.999988247793601	0.928
18	18559870	C	A	18	20979909	y	y	splicing	ROCK1(NM_005406:exon23:c.2654+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2654+1G>T)	.	.	0.999986675681007	0.932
18	18559870	C	G	18	20979909	y	y	splicing	ROCK1(NM_005406:exon23:c.2654+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2654+1G>C)	.	.	0.999986675681007	0.932
18	18559870	C	T	18	20979909	y	y	splicing	ROCK1(NM_005406:exon23:c.2654+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2654+1G>A)	.	.	0.999986675681007	0.932
18	18559871	T	A	18	20979910	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2654T:p.K885I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2654T:p.K885I;	0.74241650333619	0.616
18	18559871	T	C	18	20979910	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2654G:p.K885R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2654G:p.K885R;	5.42362539179851E-4	0.136
18	18559871	T	G	18	20979910	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2654C:p.K885T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2654C:p.K885T;	0.557791580891354	0.712
18	18559872	T	A	18	20979911	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon22:c.A2653T:p.K885X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon22:c.A2653T:p.K885X;	0.999861105476321	0.994
18	18559872	T	C	18	20979911	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2653G:p.K885E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2653G:p.K885E;	0.999676572299209	0.98
18	18559872	T	G	18	20979911	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2653C:p.K885Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2653C:p.K885Q;	0.999441726518827	0.922
18	18559873	T	A	18	20979912	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2652T:p.E884D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2652T:p.E884D;	0.499744642260943	0.532
18	18559873	T	C	18	20979912	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon22:c.A2652G:p.E884E;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2652G:p.E884E;	8.57487932229596E-5	0.01
18	18559873	T	G	18	20979912	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2652C:p.E884D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2652C:p.E884D;	6.39443735105108E-6	0.018
18	18559964	G	A	18	20980003	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.C2561T:p.T854I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.C2561T:p.T854I;	0.978758381763346	0.824
18	18559964	G	C	18	20980003	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.C2561G:p.T854R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.C2561G:p.T854R;	0.987437353707763	0.692
18	18559964	G	T	18	20980003	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.C2561A:p.T854K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.C2561A:p.T854K;	0.993355722064904	0.848
18	18559965	T	A	18	20980004	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2560T:p.T854S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2560T:p.T854S;	0.551768938293222	0.516
18	18559965	T	C	18	20980004	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2560G:p.T854A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2560G:p.T854A;	0.542454695297408	0.614
18	18559965	T	G	18	20980004	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon22:c.A2560C:p.T854P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon22:c.A2560C:p.T854P;	0.759484000566614	0.492
18	18559966	C	A	18	20980005	y	y	splicing	ROCK1(NM_005406:exon23:c.2560-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2560-1G>T)	.	.	0.999986675681007	0.934
18	18559966	C	G	18	20980005	y	y	splicing	ROCK1(NM_005406:exon23:c.2560-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2560-1G>C)	.	.	0.999986675681007	0.934
18	18559966	C	T	18	20980005	y	y	splicing	ROCK1(NM_005406:exon23:c.2560-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2560-1G>A)	.	.	0.999986675681007	0.934
18	18559967	T	A	18	20980006	y	y	splicing	ROCK1(NM_005406:exon23:c.2560-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2560-2A>T)	.	.	0.999988247793601	0.93
18	18559967	T	C	18	20980006	y	y	splicing	ROCK1(NM_005406:exon23:c.2560-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2560-2A>G)	.	.	0.999988247793601	0.93
18	18559967	T	G	18	20980006	y	y	splicing	ROCK1(NM_005406:exon23:c.2560-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon23:c.2560-2A>C)	.	.	0.999988247793601	0.93
18	18559968	G	A	18	20980007	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0138718765489276	0.136
18	18559968	G	C	18	20980007	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999084874221107	0.944
18	18559968	G	T	18	20980007	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.959529791088657	0.706
18	18559969	C	A	18	20980008	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.60506567380134E-4	0.03
18	18559969	C	G	18	20980008	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.20403350225408E-4	0.008
18	18559969	C	T	18	20980008	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.63247107352615E-4	0.018
18	18559970	A	C	18	20980009	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.855649220057667	0.724
18	18559970	A	G	18	20980009	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.211088371084415	0.18
18	18559970	A	T	18	20980009	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999709128877656	0.964
18	18559971	A	C	18	20980010	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.981353097001356	0.806
18	18559971	A	G	18	20980010	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00151944806144936	0.08
18	18559971	A	T	18	20980010	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99075089043884	0.812
18	18559972	A	C	18	20980011	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.771380503721769	0.5
18	18559972	A	G	18	20980011	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00329716497063057	0.082
18	18559972	A	T	18	20980011	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.83056199575841	0.608
18	18559973	A	C	18	20980012	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0541504588162849	0.28
18	18559973	A	G	18	20980012	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.77282384651772E-4	0.002
18	18559973	A	T	18	20980012	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0834939805530226	0.342
18	18559974	C	A	18	20980013	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00234867807211999	0.03
18	18559974	C	G	18	20980013	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00188633832970391	0.048
18	18559974	C	T	18	20980013	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00143989666823784	0.034
18	18559975	A	C	18	20980014	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.975588334518647	0.742
18	18559975	A	G	18	20980014	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00257952877775558	0.116
18	18559975	A	T	18	20980014	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999979018542469	0.978
18	18559976	A	C	18	20980015	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996140098091946	0.826
18	18559976	A	G	18	20980015	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.947258938236983	0.42
18	18559976	A	T	18	20980015	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99496054713954	0.89
18	18559977	G	A	18	20980016	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.48273060485823E-6	0.02
18	18559977	G	C	18	20980016	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99970667279782	0.92
18	18559977	G	T	18	20980016	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00161579886256674	0.104
18	18562716	T	A	18	20982755	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.79611587697581E-4	0.02
18	18562716	T	C	18	20982755	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.41695466949675E-4	0.0
18	18562716	T	G	18	20982755	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.41695466949675E-4	0.0
18	18562717	C	A	18	20982756	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.05923468377003E-4	0.002
18	18562717	C	G	18	20982756	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.54064048518761E-4	0.012
18	18562717	C	T	18	20982756	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.60948310872745E-5	0.0
18	18562718	A	C	18	20982757	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0469637223334312	0.292
18	18562718	A	G	18	20982757	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.321870679008306	0.4
18	18562718	A	T	18	20982757	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.379589806783914	0.372
18	18562719	C	A	18	20982758	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999495151666178	0.716
18	18562719	C	G	18	20982758	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999785274892055	0.916
18	18562719	C	T	18	20982758	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999710009618308	0.796
18	18562720	T	A	18	20982759	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.987096682904026	0.788
18	18562720	T	C	18	20982759	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995201230133113	0.83
18	18562720	T	G	18	20982759	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.986506005795196	0.866
18	18562721	T	A	18	20982760	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.864492704568012	0.506
18	18562721	T	C	18	20982760	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.65565417716737E-4	0.11
18	18562721	T	G	18	20982760	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.887165323507788	0.516
18	18562722	A	C	18	20982761	y	y	splicing	ROCK1(NM_005406:exon22:c.2559+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2559+2T>G)	.	.	0.999988247793601	0.93
18	18562722	A	G	18	20982761	y	y	splicing	ROCK1(NM_005406:exon22:c.2559+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2559+2T>C)	.	.	0.994669226766359	0.64
18	18562722	A	T	18	20982761	y	y	splicing	ROCK1(NM_005406:exon22:c.2559+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2559+2T>A)	.	.	0.999988247793601	0.93
18	18562723	C	A	18	20982762	y	y	splicing	ROCK1(NM_005406:exon22:c.2559+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2559+1G>T)	.	.	0.999989072007339	0.934
18	18562723	C	G	18	20982762	y	y	splicing	ROCK1(NM_005406:exon22:c.2559+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2559+1G>C)	.	.	0.999989072007339	0.934
18	18562723	C	T	18	20982762	y	y	splicing	ROCK1(NM_005406:exon22:c.2559+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2559+1G>A)	.	.	0.999989072007339	0.934
18	18562724	C	A	18	20982763	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon21:c.G2559T:p.S853S;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.G2559T:p.S853S;	0.97921532030465	0.71
18	18562724	C	G	18	20982763	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon21:c.G2559C:p.S853S;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.G2559C:p.S853S;	0.983150743333431	0.648
18	18562724	C	T	18	20982763	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon21:c.G2559A:p.S853S;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.G2559A:p.S853S;	0.982959172137516	0.662
18	18562725	G	A	18	20982764	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.C2558T:p.S853L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.C2558T:p.S853L;	0.992772990356478	0.882
18	18562725	G	C	18	20982764	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.C2558G:p.S853W;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.C2558G:p.S853W;	0.991127184706069	0.884
18	18562725	G	T	18	20982764	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon21:c.C2558A:p.S853X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon21:c.C2558A:p.S853X;	0.967710755779332	0.744
18	18562726	A	C	18	20982765	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.T2557G:p.S853A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.T2557G:p.S853A;	0.700731561124099	0.674
18	18562726	A	G	18	20982765	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.T2557C:p.S853P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.T2557C:p.S853P;	0.622640979468424	0.614
18	18562726	A	T	18	20982765	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.T2557A:p.S853T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.T2557A:p.S853T;	0.596606236825237	0.664
18	18562792	G	A	18	20982831	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon21:c.C2491T:p.Q831X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon21:c.C2491T:p.Q831X;	0.98466214167764	0.87
18	18562792	G	C	18	20982831	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.C2491G:p.Q831E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.C2491G:p.Q831E;	0.0031484522972872	0.094
18	18562792	G	T	18	20982831	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.C2491A:p.Q831K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.C2491A:p.Q831K;	0.992323614012745	0.76
18	18562793	T	A	18	20982832	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.A2490T:p.K830N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.A2490T:p.K830N;	0.00282043068590658	0.182
18	18562793	T	C	18	20982832	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon21:c.A2490G:p.K830K;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.A2490G:p.K830K;	2.5814773391278E-4	0.024
18	18562793	T	G	18	20982832	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon21:c.A2490C:p.K830N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon21:c.A2490C:p.K830N;	4.36113202395222E-4	0.114
18	18562794	C	A	18	20982833	y	y	splicing	ROCK1(NM_005406:exon22:c.2490-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2490-1G>T)	.	.	0.999989072007339	0.916
18	18562794	C	G	18	20982833	y	y	splicing	ROCK1(NM_005406:exon22:c.2490-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2490-1G>C)	.	.	0.999989072007339	0.916
18	18562794	C	T	18	20982833	y	y	splicing	ROCK1(NM_005406:exon22:c.2490-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2490-1G>A)	.	.	0.999989072007339	0.916
18	18562795	T	A	18	20982834	y	y	splicing	ROCK1(NM_005406:exon22:c.2490-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2490-2A>T)	.	.	0.999988247793601	0.91
18	18562795	T	C	18	20982834	y	y	splicing	ROCK1(NM_005406:exon22:c.2490-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2490-2A>G)	.	.	0.999988247793601	0.908
18	18562795	T	G	18	20982834	y	y	splicing	ROCK1(NM_005406:exon22:c.2490-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon22:c.2490-2A>C)	.	.	0.999988247793601	0.908
18	18562796	T	A	18	20982835	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00177247717920307	0.054
18	18562796	T	C	18	20982835	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.772486154741842	0.598
18	18562796	T	G	18	20982835	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.22573073118401E-4	0.078
18	18562797	C	A	18	20982836	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.60435924187174E-4	0.01
18	18562797	C	G	18	20982836	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.07311227029722E-4	0.008
18	18562797	C	T	18	20982836	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.50685831188559E-4	0.01
18	18562798	A	C	18	20982837	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.352387347782339	0.516
18	18562798	A	G	18	20982837	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.41135446914661E-4	0.114
18	18562798	A	T	18	20982837	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999808052266799	0.972
18	18562799	G	A	18	20982838	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.10594117883015E-4	0.004
18	18562799	G	C	18	20982838	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.34488115807612E-4	0.152
18	18562799	G	T	18	20982838	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00489936593954485	0.136
18	18562800	A	C	18	20982839	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99991899551667	0.976
18	18562800	A	G	18	20982839	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.64365744232861E-5	0.036
18	18562800	A	T	18	20982839	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00483679452340424	0.096
18	18562801	T	A	18	20982840	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.58645906776164E-5	0.002
18	18562801	T	C	18	20982840	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.42376614359201E-5	0.002
18	18562801	T	G	18	20982840	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.79363529620838E-5	0.022
18	18562802	G	A	18	20982841	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.45888849174248E-5	0.0
18	18562802	G	C	18	20982841	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0030666671939205	0.096
18	18562802	G	T	18	20982841	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.89193530656547E-4	0.068
18	18562803	A	C	18	20982842	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0130216153307359	0.084
18	18562803	A	G	18	20982842	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.42314330652761E-4	0.1
18	18562803	A	T	18	20982842	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0164007732890426	0.134
18	18562804	A	C	18	20982843	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.037328145349648	0.266
18	18562804	A	G	18	20982843	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.018960574372995	0.18
18	18562804	A	T	18	20982843	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.133057697212272	0.484
18	18562805	A	C	18	20982844	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0590310130545373	0.356
18	18562805	A	G	18	20982844	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00312163419700537	0.114
18	18562805	A	T	18	20982844	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0321734559566563	0.364
18	18564304	A	C	18	20984343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.39613260058829E-4	0.008
18	18564304	A	G	18	20984343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.39613260058829E-4	0.008
18	18564304	A	T	18	20984343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.00106947490559E-4	0.0
18	18564305	G	A	18	20984344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.1314343605662E-5	0.008
18	18564305	G	C	18	20984344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.34997716643776E-5	0.004
18	18564305	G	T	18	20984344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.34997716643776E-5	0.008
18	18564306	A	C	18	20984345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.711615793430482	0.566
18	18564306	A	G	18	20984345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.918725456763812	0.544
18	18564306	A	T	18	20984345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.98415502804802	0.642
18	18564307	C	A	18	20984346	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999435519767136	0.928
18	18564307	C	G	18	20984346	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999246032529468	0.944
18	18564307	C	T	18	20984346	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999345389608584	0.982
18	18564308	T	A	18	20984347	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.949435963840415	0.65
18	18564308	T	C	18	20984347	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.987222584819997	0.812
18	18564308	T	G	18	20984347	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.865282413109302	0.632
18	18564309	T	A	18	20984348	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997062084672471	0.804
18	18564309	T	C	18	20984348	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.614409214572841	0.366
18	18564309	T	G	18	20984348	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999740374123788	0.896
18	18564310	A	C	18	20984349	y	y	splicing	ROCK1(NM_005406:exon21:c.2489+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2489+2T>G)	.	.	0.999988247793601	0.928
18	18564310	A	G	18	20984349	y	y	splicing	ROCK1(NM_005406:exon21:c.2489+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2489+2T>C)	.	.	0.99416530160294	0.632
18	18564310	A	T	18	20984349	y	y	splicing	ROCK1(NM_005406:exon21:c.2489+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2489+2T>A)	.	.	0.999988247793601	0.928
18	18564311	C	A	18	20984350	y	y	splicing	ROCK1(NM_005406:exon21:c.2489+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2489+1G>T)	.	.	0.999986675681007	0.934
18	18564311	C	G	18	20984350	y	y	splicing	ROCK1(NM_005406:exon21:c.2489+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2489+1G>C)	.	.	0.999986675681007	0.934
18	18564311	C	T	18	20984350	y	y	splicing	ROCK1(NM_005406:exon21:c.2489+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2489+1G>A)	.	.	0.999986675681007	0.934
18	18564312	T	A	18	20984351	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.A2489T:p.K830I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.A2489T:p.K830I;	0.726868219250641	0.654
18	18564312	T	C	18	20984351	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.A2489G:p.K830R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.A2489G:p.K830R;	0.0182328284470623	0.146
18	18564312	T	G	18	20984351	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.A2489C:p.K830T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.A2489C:p.K830T;	0.558295694435216	0.588
18	18564313	T	A	18	20984352	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon20:c.A2488T:p.K830X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon20:c.A2488T:p.K830X;	0.997107924799965	0.828
18	18564313	T	C	18	20984352	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.A2488G:p.K830E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.A2488G:p.K830E;	0.996680840806542	0.894
18	18564313	T	G	18	20984352	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.A2488C:p.K830Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.A2488C:p.K830Q;	0.997281832700313	0.942
18	18564314	C	A	18	20984353	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon20:c.G2487T:p.T829T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.G2487T:p.T829T;	0.00340330715085053	0.088
18	18564314	C	G	18	20984353	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon20:c.G2487C:p.T829T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.G2487C:p.T829T;	1.08979139969713E-5	0.008
18	18564314	C	T	18	20984353	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon20:c.G2487A:p.T829T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.G2487A:p.T829T;	2.86645866431489E-5	0.0
18	18564495	A	C	18	20984534	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.T2306G:p.V769G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.T2306G:p.V769G;	0.170287035452669	0.484
18	18564495	A	G	18	20984534	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.T2306C:p.V769A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.T2306C:p.V769A;	0.237815779232875	0.372
18	18564495	A	T	18	20984534	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.T2306A:p.V769D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.T2306A:p.V769D;	0.246594474791353	0.494
18	18564496	C	A	18	20984535	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.G2305T:p.V769F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.G2305T:p.V769F;	0.99978856193646	0.992
18	18564496	C	G	18	20984535	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.G2305C:p.V769L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.G2305C:p.V769L;	0.999651217351926	0.966
18	18564496	C	T	18	20984535	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon20:c.G2305A:p.V769I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon20:c.G2305A:p.V769I;	0.99950436636758	0.89
18	18564497	C	A	18	20984536	y	y	splicing	ROCK1(NM_005406:exon21:c.2305-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2305-1G>T)	.	.	0.999986675681007	0.932
18	18564497	C	G	18	20984536	y	y	splicing	ROCK1(NM_005406:exon21:c.2305-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2305-1G>C)	.	.	0.999986675681007	0.932
18	18564497	C	T	18	20984536	y	y	splicing	ROCK1(NM_005406:exon21:c.2305-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2305-1G>A)	.	.	0.999986675681007	0.932
18	18564498	T	A	18	20984537	y	y	splicing	ROCK1(NM_005406:exon21:c.2305-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2305-2A>T)	.	.	0.999988247793601	0.928
18	18564498	T	C	18	20984537	y	y	splicing	ROCK1(NM_005406:exon21:c.2305-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2305-2A>G)	.	.	0.999988247793601	0.928
18	18564498	T	G	18	20984537	y	y	splicing	ROCK1(NM_005406:exon21:c.2305-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon21:c.2305-2A>C)	.	.	0.999988247793601	0.928
18	18564499	A	C	18	20984538	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.922462212501355	0.634
18	18564499	A	G	18	20984538	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.72103537136921E-5	0.0
18	18564499	A	T	18	20984538	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.86017228079909E-4	0.062
18	18564500	T	A	18	20984539	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00288828912356736	0.058
18	18564500	T	C	18	20984539	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00115293647928375	0.026
18	18564500	T	G	18	20984539	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00114732027649554	0.008
18	18564501	G	A	18	20984540	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.70936842140391E-5	0.0
18	18564501	G	C	18	20984540	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.04155524667113E-4	0.02
18	18564501	G	T	18	20984540	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.17817368733261E-4	0.034
18	18564502	A	C	18	20984541	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.142176002041423	0.292
18	18564502	A	G	18	20984541	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00125747821999659	0.05
18	18564502	A	T	18	20984541	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.272504261198593	0.238
18	18564503	A	C	18	20984542	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99961279880071	0.99
18	18564503	A	G	18	20984542	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.6078957692778E-5	0.002
18	18564503	A	T	18	20984542	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.48964795546171E-4	0.034
18	18564504	T	A	18	20984543	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.73364167883357E-4	0.004
18	18564504	T	C	18	20984543	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.80460134033517E-4	0.0
18	18564504	T	G	18	20984543	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.09886659402845E-4	0.004
18	18564505	G	A	18	20984544	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.22429447399256E-4	0.046
18	18564505	G	C	18	20984544	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00374426121074475	0.198
18	18564505	G	T	18	20984544	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00243737226686895	0.22
18	18564506	A	C	18	20984545	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.818523266020656	0.586
18	18564506	A	G	18	20984545	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0538192572244882	0.312
18	18564506	A	T	18	20984545	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.863057014429933	0.606
18	18564507	G	A	18	20984546	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.71763500817917E-5	0.0
18	18564507	G	C	18	20984546	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.37693600503794E-4	0.02
18	18564507	G	T	18	20984546	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.30961998142352E-4	0.212
18	18564508	A	C	18	20984547	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.862400198998739	0.538
18	18564508	A	G	18	20984547	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0897961868197234	0.308
18	18564508	A	T	18	20984547	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.961195709162992	0.58
18	18566903	T	A	18	20986942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00164616620753514	0.0
18	18566903	T	C	18	20986942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00109562911214443	0.004
18	18566903	T	G	18	20986942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.81241530948126E-4	0.0
18	18566904	T	A	18	20986943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00883681042941614	0.074
18	18566904	T	C	18	20986943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00204067122415932	0.028
18	18566904	T	G	18	20986943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00209578081532327	0.014
18	18566905	T	A	18	20986944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.58548474670741E-5	0.026
18	18566905	T	C	18	20986944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.06174288213206E-5	0.0
18	18566905	T	G	18	20986944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.48017268053333E-4	0.02
18	18566906	C	A	18	20986945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99998514610187	0.96
18	18566906	C	G	18	20986945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999986551874278	0.976
18	18566906	C	T	18	20986945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999989455400317	0.998
18	18566907	T	A	18	20986946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996464047296436	0.93
18	18566907	T	C	18	20986946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997596352406647	0.928
18	18566907	T	G	18	20986946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996464047296436	0.908
18	18566908	T	A	18	20986947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999720630212606	0.96
18	18566908	T	C	18	20986947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.991728619549852	0.686
18	18566908	T	G	18	20986947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999613074493322	0.886
18	18566909	A	C	18	20986948	y	y	splicing	ROCK1(NM_005406:exon20:c.2304+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2304+2T>G)	.	.	0.999988247793601	0.948
18	18566909	A	G	18	20986948	y	y	splicing	ROCK1(NM_005406:exon20:c.2304+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2304+2T>C)	.	.	0.994669226766359	0.646
18	18566909	A	T	18	20986948	y	y	splicing	ROCK1(NM_005406:exon20:c.2304+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2304+2T>A)	.	.	0.999988247793601	0.948
18	18566910	C	A	18	20986949	y	y	splicing	ROCK1(NM_005406:exon20:c.2304+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2304+1G>T)	.	.	0.999989072007339	0.946
18	18566910	C	G	18	20986949	y	y	splicing	ROCK1(NM_005406:exon20:c.2304+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2304+1G>C)	.	.	0.999989072007339	0.946
18	18566910	C	T	18	20986949	y	y	splicing	ROCK1(NM_005406:exon20:c.2304+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2304+1G>A)	.	.	0.999989072007339	0.946
18	18566911	T	A	18	20986950	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.A2304T:p.E768D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2304T:p.E768D;	0.0128666191440218	0.224
18	18566911	T	C	18	20986950	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon19:c.A2304G:p.E768E;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2304G:p.E768E;	0.00126765764675112	0.096
18	18566911	T	G	18	20986950	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.A2304C:p.E768D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2304C:p.E768D;	0.005339359370142	0.15
18	18566912	T	A	18	20986951	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.A2303T:p.E768V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2303T:p.E768V;	0.999866516308645	0.97
18	18566912	T	C	18	20986951	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.A2303G:p.E768G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2303G:p.E768G;	0.999675725028514	0.912
18	18566912	T	G	18	20986951	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.A2303C:p.E768A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2303C:p.E768A;	0.999288214292373	0.93
18	18566913	C	A	18	20986952	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon19:c.G2302T:p.E768X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon19:c.G2302T:p.E768X;	0.989010578631808	0.874
18	18566913	C	G	18	20986952	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.G2302C:p.E768Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.G2302C:p.E768Q;	0.94842033390483	0.634
18	18566913	C	T	18	20986952	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.G2302A:p.E768K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.G2302A:p.E768K;	0.00251569157023534	0.048
18	18567070	C	A	18	20987109	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.G2145T:p.E715D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.G2145T:p.E715D;	6.82707771613892E-5	0.0
18	18567070	C	G	18	20987109	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.G2145C:p.E715D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.G2145C:p.E715D;	3.77362226534125E-5	0.02
18	18567070	C	T	18	20987109	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon19:c.G2145A:p.E715E;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.G2145A:p.E715E;	4.97732879795602E-5	0.004
18	18567071	T	A	18	20987110	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.A2144T:p.E715V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2144T:p.E715V;	0.401496310914775	0.466
18	18567071	T	C	18	20987110	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.A2144G:p.E715G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2144G:p.E715G;	0.254026166257697	0.39
18	18567071	T	G	18	20987110	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon19:c.A2144C:p.E715A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon19:c.A2144C:p.E715A;	0.0112559826933494	0.126
18	18567072	C	A	18	20987111	y	y	splicing	ROCK1(NM_005406:exon20:c.2144-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2144-1G>T)	.	.	0.999989072007339	0.934
18	18567072	C	G	18	20987111	y	y	splicing	ROCK1(NM_005406:exon20:c.2144-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2144-1G>C)	.	.	0.999989072007339	0.934
18	18567072	C	T	18	20987111	y	y	splicing	ROCK1(NM_005406:exon20:c.2144-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2144-1G>A)	.	.	0.999989072007339	0.934
18	18567073	T	A	18	20987112	y	y	splicing	ROCK1(NM_005406:exon20:c.2144-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2144-2A>T)	.	.	0.999988247793601	0.932
18	18567073	T	C	18	20987112	y	y	splicing	ROCK1(NM_005406:exon20:c.2144-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2144-2A>G)	.	.	0.999988247793601	0.932
18	18567073	T	G	18	20987112	y	y	splicing	ROCK1(NM_005406:exon20:c.2144-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon20:c.2144-2A>C)	.	.	0.999988247793601	0.932
18	18567074	G	A	18	20987113	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0256911549932297	0.102
18	18567074	G	C	18	20987113	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999294063717455	0.978
18	18567074	G	T	18	20987113	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995698999649897	0.776
18	18567075	G	A	18	20987114	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.54247402745762E-5	0.014
18	18567075	G	C	18	20987114	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.98999519759035E-5	0.012
18	18567075	G	T	18	20987114	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.48120621562704E-5	0.014
18	18567076	G	A	18	20987115	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.21086675085919E-5	0.0
18	18567076	G	C	18	20987115	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00207423529330598	0.142
18	18567076	G	T	18	20987115	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.65445600716154E-4	0.16
18	18567077	A	C	18	20987116	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.573200203601154	0.494
18	18567077	A	G	18	20987116	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0153769214217718	0.222
18	18567077	A	T	18	20987116	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.642319856157819	0.508
18	18567078	A	C	18	20987117	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0214841070322934	0.148
18	18567078	A	G	18	20987117	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.40456420678414E-5	0.0
18	18567078	A	T	18	20987117	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.068552991020646	0.214
18	18567079	A	C	18	20987118	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00192858761250755	0.12
18	18567079	A	G	18	20987118	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.92969803238826E-4	0.0
18	18567079	A	T	18	20987118	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0518331037098052	0.166
18	18567080	G	A	18	20987119	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.52842252128566E-4	0.044
18	18567080	G	C	18	20987119	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00192587319196935	0.09
18	18567080	G	T	18	20987119	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00122090021865283	0.12
18	18567081	C	A	18	20987120	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.98779915007637E-5	0.002
18	18567081	C	G	18	20987120	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.89221396307207E-5	0.002
18	18567081	C	T	18	20987120	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.70249155759156E-4	0.008
18	18567082	A	C	18	20987121	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.96086094130993	0.612
18	18567082	A	G	18	20987121	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.50027127831422	0.368
18	18567082	A	T	18	20987121	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999976444611169	0.972
18	18567083	A	C	18	20987122	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.127231967068685	0.286
18	18567083	A	G	18	20987122	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00357912831678938	0.14
18	18567083	A	T	18	20987122	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.202823399751599	0.39
18	18571129	A	C	18	20991168	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.2247426658078E-4	0.008
18	18571129	A	G	18	20991168	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.29344369509342E-4	0.008
18	18571129	A	T	18	20991168	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.37223667797628E-4	0.024
18	18571130	C	A	18	20991169	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00255729652319625	0.028
18	18571130	C	G	18	20991169	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00247206463628115	0.016
18	18571130	C	T	18	20991169	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00292949551674476	0.022
18	18571131	A	C	18	20991170	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.366015285311424	0.44
18	18571131	A	G	18	20991170	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.856146272514572	0.628
18	18571131	A	T	18	20991170	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.629170147094268	0.574
18	18571132	C	A	18	20991171	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999179728191963	0.926
18	18571132	C	G	18	20991171	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.994318680184601	0.842
18	18571132	C	T	18	20991171	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998832757120374	0.982
18	18571133	T	A	18	20991172	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.890577530914405	0.662
18	18571133	T	C	18	20991172	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.911727670532401	0.696
18	18571133	T	G	18	20991172	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.746835262267087	0.568
18	18571134	T	A	18	20991173	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997197595269398	0.896
18	18571134	T	C	18	20991173	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.1543313702348	0.324
18	18571134	T	G	18	20991173	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.994644345983273	0.9
18	18571135	A	C	18	20991174	y	y	splicing	ROCK1(NM_005406:exon19:c.2143+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.2143+2T>G)	.	.	0.999992752818502	0.928
18	18571135	A	G	18	20991174	y	y	splicing	ROCK1(NM_005406:exon19:c.2143+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.2143+2T>C)	.	.	0.992019297660769	0.626
18	18571135	A	T	18	20991174	y	y	splicing	ROCK1(NM_005406:exon19:c.2143+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.2143+2T>A)	.	.	0.999992752818502	0.928
18	18571136	C	A	18	20991175	y	y	splicing	ROCK1(NM_005406:exon19:c.2143+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.2143+1G>T)	.	.	0.999981760802075	0.94
18	18571136	C	G	18	20991175	y	y	splicing	ROCK1(NM_005406:exon19:c.2143+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.2143+1G>C)	.	.	0.999981760802075	0.94
18	18571136	C	T	18	20991175	y	y	splicing	ROCK1(NM_005406:exon19:c.2143+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.2143+1G>A)	.	.	0.999981760802075	0.94
18	18571137	C	A	18	20991176	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon18:c.G2143T:p.E715X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon18:c.G2143T:p.E715X;	0.999171199089235	0.96
18	18571137	C	G	18	20991176	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.G2143C:p.E715Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.G2143C:p.E715Q;	0.999369365747777	0.96
18	18571137	C	T	18	20991176	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.G2143A:p.E715K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.G2143A:p.E715K;	0.999043826538576	0.97
18	18571138	A	C	18	20991177	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.T2142G:p.C714W;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.T2142G:p.C714W;	0.020401235061317	0.058
18	18571138	A	G	18	20991177	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon18:c.T2142C:p.C714C;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.T2142C:p.C714C;	0.00173575266456037	0.016
18	18571138	A	T	18	20991177	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon18:c.T2142A:p.C714X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon18:c.T2142A:p.C714X;	0.0277935558107216	0.464
18	18571139	C	A	18	20991178	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.G2141T:p.C714F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.G2141T:p.C714F;	0.00137046614701436	0.06
18	18571139	C	G	18	20991178	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.G2141C:p.C714S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.G2141C:p.C714S;	2.2774073742405E-4	0.0
18	18571139	C	T	18	20991178	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.G2141A:p.C714Y;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.G2141A:p.C714Y;	2.48414218454607E-4	0.012
18	18571286	T	A	18	20991325	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.A1994T:p.E665V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.A1994T:p.E665V;	0.572396948141714	0.784
18	18571286	T	C	18	20991325	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.A1994G:p.E665G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.A1994G:p.E665G;	0.569425415648989	0.756
18	18571286	T	G	18	20991325	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.A1994C:p.E665A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.A1994C:p.E665A;	0.672914774943554	0.794
18	18571287	C	A	18	20991326	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon18:c.G1993T:p.E665X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon18:c.G1993T:p.E665X;	0.996050384210032	0.86
18	18571287	C	G	18	20991326	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.G1993C:p.E665Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.G1993C:p.E665Q;	0.804913616321207	0.736
18	18571287	C	T	18	20991326	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon18:c.G1993A:p.E665K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon18:c.G1993A:p.E665K;	0.149062056815829	0.382
18	18571288	C	A	18	20991327	y	y	splicing	ROCK1(NM_005406:exon19:c.1993-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.1993-1G>T)	.	.	0.999976206550861	0.916
18	18571288	C	G	18	20991327	y	y	splicing	ROCK1(NM_005406:exon19:c.1993-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.1993-1G>C)	.	.	0.999976206550861	0.916
18	18571288	C	T	18	20991327	y	y	splicing	ROCK1(NM_005406:exon19:c.1993-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.1993-1G>A)	.	.	0.999976206550861	0.916
18	18571289	T	A	18	20991328	y	y	splicing	ROCK1(NM_005406:exon19:c.1993-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.1993-2A>T)	.	.	0.999986607513753	0.916
18	18571289	T	C	18	20991328	y	y	splicing	ROCK1(NM_005406:exon19:c.1993-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.1993-2A>G)	.	.	0.999986607513753	0.916
18	18571289	T	G	18	20991328	y	y	splicing	ROCK1(NM_005406:exon19:c.1993-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon19:c.1993-2A>C)	.	.	0.999986607513753	0.916
18	18571290	G	A	18	20991329	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00183416728170022	0.014
18	18571290	G	C	18	20991329	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999750896219319	0.966
18	18571290	G	T	18	20991329	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0490921567197453	0.408
18	18571291	T	A	18	20991330	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.58597482489532E-5	0.004
18	18571291	T	C	18	20991330	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.1698838237142E-5	0.0
18	18571291	T	G	18	20991330	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.35854772994503E-5	0.0
18	18571292	A	C	18	20991331	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0311557406481409	0.246
18	18571292	A	G	18	20991331	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.30493824854968E-4	0.008
18	18571292	A	T	18	20991331	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00736796866973125	0.118
18	18571293	A	C	18	20991332	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0543755188410039	0.23
18	18571293	A	G	18	20991332	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00104459887393806	0.06
18	18571293	A	T	18	20991332	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0650975103319932	0.206
18	18571294	A	C	18	20991333	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00737966787105392	0.15
18	18571294	A	G	18	20991333	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.13573415387599E-4	0.032
18	18571294	A	T	18	20991333	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0190702223295569	0.194
18	18571295	A	C	18	20991334	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999761821875762	0.998
18	18571295	A	G	18	20991334	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.65155175532486E-5	0.002
18	18571295	A	T	18	20991334	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00117680742749171	0.086
18	18571296	T	A	18	20991335	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.71915265488377E-4	0.002
18	18571296	T	C	18	20991335	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.03750058254346E-4	0.012
18	18571296	T	G	18	20991335	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.98912980676726E-4	0.002
18	18571297	G	A	18	20991336	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.09351803983524E-5	0.002
18	18571297	G	C	18	20991336	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0047079576613214	0.074
18	18571297	G	T	18	20991336	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00314032340882673	0.136
18	18571298	G	A	18	20991337	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.2368277334286E-5	0.082
18	18571298	G	C	18	20991337	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.98686696350166E-4	0.014
18	18571298	G	T	18	20991337	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.44488004084798E-4	0.03
18	18571299	G	A	18	20991338	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.80733447493766E-5	0.006
18	18571299	G	C	18	20991338	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.08814909927559E-4	0.024
18	18571299	G	T	18	20991338	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00132339087479325	0.038
18	18572784	T	A	18	20992823	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.72762690521279E-5	0.006
18	18572784	T	C	18	20992823	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.72762690521279E-5	0.012
18	18572784	T	G	18	20992823	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.56013992431074E-5	0.014
18	18572785	C	A	18	20992824	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.12868614267855E-5	0.002
18	18572785	C	G	18	20992824	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.85047789963066E-6	0.002
18	18572785	C	T	18	20992824	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.85047789963066E-6	0.006
18	18572786	A	C	18	20992825	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00321482298234916	0.262
18	18572786	A	G	18	20992825	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0349719187744303	0.364
18	18572786	A	T	18	20992825	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0868897902417562	0.316
18	18572787	T	A	18	20992826	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.65638642811951E-5	0.002
18	18572787	T	C	18	20992826	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.68992612277946E-5	0.006
18	18572787	T	G	18	20992826	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.4532843793062E-5	0.014
18	18572788	T	A	18	20992827	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.636248295177112	0.362
18	18572788	T	C	18	20992827	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.331812725531082	0.314
18	18572788	T	G	18	20992827	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.238065701888208	0.268
18	18572789	T	A	18	20992828	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998364309548542	0.834
18	18572789	T	C	18	20992828	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995139566616239	0.766
18	18572789	T	G	18	20992828	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999846999937317	0.89
18	18572790	A	C	18	20992829	y	y	splicing	ROCK1(NM_005406:exon18:c.1992+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1992+2T>G)	.	.	0.999988247793601	0.928
18	18572790	A	G	18	20992829	y	y	splicing	ROCK1(NM_005406:exon18:c.1992+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1992+2T>C)	.	.	0.994669226766359	0.674
18	18572790	A	T	18	20992829	y	y	splicing	ROCK1(NM_005406:exon18:c.1992+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1992+2T>A)	.	.	0.999988247793601	0.928
18	18572791	C	A	18	20992830	y	y	splicing	ROCK1(NM_005406:exon18:c.1992+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1992+1G>T)	.	.	0.999986675681007	0.934
18	18572791	C	G	18	20992830	y	y	splicing	ROCK1(NM_005406:exon18:c.1992+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1992+1G>C)	.	.	0.999986675681007	0.934
18	18572791	C	T	18	20992830	y	y	splicing	ROCK1(NM_005406:exon18:c.1992+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1992+1G>A)	.	.	0.999986675681007	0.934
18	18572792	C	A	18	20992831	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.G1992T:p.K664N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.G1992T:p.K664N;	0.999971109091454	0.982
18	18572792	C	G	18	20992831	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.G1992C:p.K664N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.G1992C:p.K664N;	0.999998478014604	0.99
18	18572792	C	T	18	20992831	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon17:c.G1992A:p.K664K;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.G1992A:p.K664K;	0.999595560979994	0.994
18	18572793	T	A	18	20992832	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.A1991T:p.K664M;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.A1991T:p.K664M;	0.999629562240392	0.992
18	18572793	T	C	18	20992832	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.A1991G:p.K664R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.A1991G:p.K664R;	0.999542598692413	0.964
18	18572793	T	G	18	20992832	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.A1991C:p.K664T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.A1991C:p.K664T;	0.990032457819973	0.826
18	18572794	T	A	18	20992833	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon17:c.A1990T:p.K664X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon17:c.A1990T:p.K664X;	0.956518553220062	0.69
18	18572794	T	C	18	20992833	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.A1990G:p.K664E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.A1990G:p.K664E;	0.15944471302303	0.392
18	18572794	T	G	18	20992833	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.A1990C:p.K664Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.A1990C:p.K664Q;	0.581804602128799	0.624
18	18572897	A	C	18	20992936	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon17:c.T1887G:p.A629A;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.T1887G:p.A629A;	0.00288606965786985	0.198
18	18572897	A	G	18	20992936	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon17:c.T1887C:p.A629A;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.T1887C:p.A629A;	0.00299726706706846	0.174
18	18572897	A	T	18	20992936	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon17:c.T1887A:p.A629A;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.T1887A:p.A629A;	0.00255872835909596	0.16
18	18572898	G	A	18	20992937	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.C1886T:p.A629V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.C1886T:p.A629V;	0.984863599582442	0.826
18	18572898	G	C	18	20992937	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.C1886G:p.A629G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.C1886G:p.A629G;	0.00105056963283617	0.122
18	18572898	G	T	18	20992937	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon17:c.C1886A:p.A629D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon17:c.C1886A:p.A629D;	0.155902278948928	0.282
18	18572899	C	A	18	20992938	y	y	splicing	ROCK1(NM_005406:exon18:c.1886-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1886-1G>T)	.	.	0.999986675681007	0.934
18	18572899	C	G	18	20992938	y	y	splicing	ROCK1(NM_005406:exon18:c.1886-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1886-1G>C)	.	.	0.999986675681007	0.934
18	18572899	C	T	18	20992938	y	y	splicing	ROCK1(NM_005406:exon18:c.1886-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1886-1G>A)	.	.	0.999986675681007	0.934
18	18572900	T	A	18	20992939	y	y	splicing	ROCK1(NM_005406:exon18:c.1886-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1886-2A>T)	.	.	0.999988247793601	0.928
18	18572900	T	C	18	20992939	y	y	splicing	ROCK1(NM_005406:exon18:c.1886-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1886-2A>G)	.	.	0.999988247793601	0.928
18	18572900	T	G	18	20992939	y	y	splicing	ROCK1(NM_005406:exon18:c.1886-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon18:c.1886-2A>C)	.	.	0.999988247793601	0.928
18	18572901	A	C	18	20992940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999489693142427	0.8
18	18572901	A	G	18	20992940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.11927059856965E-4	0.004
18	18572901	A	T	18	20992940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0754837928142154	0.232
18	18572902	T	A	18	20992941	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.60521027172938E-4	0.058
18	18572902	T	C	18	20992941	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00148921265744647	0.046
18	18572902	T	G	18	20992941	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.05481684574961E-4	0.004
18	18572903	C	A	18	20992942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.01626070616306E-4	0.04
18	18572903	C	G	18	20992942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.18365177522128E-5	0.01
18	18572903	C	T	18	20992942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.28218747644119E-4	0.008
18	18572904	A	C	18	20992943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.718749441735324	0.664
18	18572904	A	G	18	20992943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.28135955945409E-4	0.018
18	18572904	A	T	18	20992943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999946404289429	0.976
18	18572905	A	C	18	20992944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.963399053771076	0.712
18	18572905	A	G	18	20992944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00358307010789491	0.15
18	18572905	A	T	18	20992944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995714647228163	0.742
18	18572906	G	A	18	20992945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.11795950337069E-5	0.0
18	18572906	G	C	18	20992945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999770600746164	0.986
18	18572906	G	T	18	20992945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.00099923129949E-4	0.036
18	18572907	T	A	18	20992946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.0298156051411E-5	0.002
18	18572907	T	C	18	20992946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.30288788508046E-5	0.016
18	18572907	T	G	18	20992946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.26197756279751E-5	0.008
18	18572908	G	A	18	20992947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.4481164117948E-4	0.0
18	18572908	G	C	18	20992947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00211111901237943	0.07
18	18572908	G	T	18	20992947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00526029615762187	0.034
18	18572909	A	C	18	20992948	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999672550564795	0.952
18	18572909	A	G	18	20992948	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.98880813635996	0.692
18	18572909	A	T	18	20992948	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99973790189217	0.98
18	18572910	G	A	18	20992949	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.39799689398451E-4	0.012
18	18572910	G	C	18	20992949	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00498316382878097	0.102
18	18572910	G	T	18	20992949	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0113694977440011	0.152
18	18586304	A	C	18	21006343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.55250222044189E-4	0.004
18	18586304	A	G	18	21006343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.27790823993385E-4	0.094
18	18586304	A	T	18	21006343	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.16219742734516E-4	0.0
18	18586305	A	C	18	21006344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.43609360149621E-4	0.008
18	18586305	A	G	18	21006344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.43609360149621E-4	0.012
18	18586305	A	T	18	21006344	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.82124546192322E-5	0.0
18	18586306	T	A	18	21006345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.96965213815625E-5	0.016
18	18586306	T	C	18	21006345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.1513558559873E-5	0.0
18	18586306	T	G	18	21006345	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.22813088003922E-4	0.03
18	18586307	A	C	18	21006346	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.59906733048679E-4	0.05
18	18586307	A	G	18	21006346	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00188058145250833	0.062
18	18586307	A	T	18	21006346	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00524209902730965	0.034
18	18586308	T	A	18	21006347	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996505027553143	0.866
18	18586308	T	C	18	21006347	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.963167327948202	0.772
18	18586308	T	G	18	21006347	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.909651997540601	0.628
18	18586309	T	A	18	21006348	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999953051410251	0.988
18	18586309	T	C	18	21006348	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998635713196834	0.878
18	18586309	T	G	18	21006348	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999934259742836	0.982
18	18586310	A	C	18	21006349	y	y	splicing	ROCK1(NM_005406:exon17:c.1885+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1885+2T>G)	.	.	0.999988247793601	0.942
18	18586310	A	G	18	21006349	y	y	splicing	ROCK1(NM_005406:exon17:c.1885+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1885+2T>C)	.	.	0.995646001166289	0.696
18	18586310	A	T	18	21006349	y	y	splicing	ROCK1(NM_005406:exon17:c.1885+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1885+2T>A)	.	.	0.999988247793601	0.942
18	18586311	C	A	18	21006350	y	y	splicing	ROCK1(NM_005406:exon17:c.1885+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1885+1G>T)	.	.	0.999989072007339	0.946
18	18586311	C	G	18	21006350	y	y	splicing	ROCK1(NM_005406:exon17:c.1885+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1885+1G>C)	.	.	0.999989072007339	0.946
18	18586311	C	T	18	21006350	y	y	splicing	ROCK1(NM_005406:exon17:c.1885+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1885+1G>A)	.	.	0.999989072007339	0.946
18	18586312	C	A	18	21006351	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.G1885T:p.A629S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.G1885T:p.A629S;	0.999992084630314	1.0
18	18586312	C	G	18	21006351	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.G1885C:p.A629P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.G1885C:p.A629P;	0.99999774324664	1.0
18	18586312	C	T	18	21006351	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.G1885A:p.A629T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.G1885A:p.A629T;	0.999993449494972	1.0
18	18586313	T	A	18	21006352	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.A1884T:p.Q628H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.A1884T:p.Q628H;	0.999207791238245	0.976
18	18586313	T	C	18	21006352	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon16:c.A1884G:p.Q628Q;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.A1884G:p.Q628Q;	0.683696196982392	0.604
18	18586313	T	G	18	21006352	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.A1884C:p.Q628H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.A1884C:p.Q628H;	0.997000452490552	0.832
18	18586314	T	A	18	21006353	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.A1883T:p.Q628L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.A1883T:p.Q628L;	0.995264382440613	0.768
18	18586314	T	C	18	21006353	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.A1883G:p.Q628R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.A1883G:p.Q628R;	0.444705812791837	0.436
18	18586314	T	G	18	21006353	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.A1883C:p.Q628P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.A1883C:p.Q628P;	0.881061536711576	0.706
18	18586557	A	C	18	21006596	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.T1640G:p.L547R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.T1640G:p.L547R;	0.788229042793385	0.512
18	18586557	A	G	18	21006596	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.T1640C:p.L547P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.T1640C:p.L547P;	0.778793161508207	0.56
18	18586557	A	T	18	21006596	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.T1640A:p.L547Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.T1640A:p.L547Q;	0.802975779524726	0.57
18	18586558	G	A	18	21006597	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon16:c.C1639T:p.L547L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.C1639T:p.L547L;	0.0313071450242759	0.3
18	18586558	G	C	18	21006597	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.C1639G:p.L547V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.C1639G:p.L547V;	0.329445025082291	0.366
18	18586558	G	T	18	21006597	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon16:c.C1639A:p.L547I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon16:c.C1639A:p.L547I;	0.01071430856053	0.182
18	18586559	C	A	18	21006598	y	y	splicing	ROCK1(NM_005406:exon17:c.1639-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1639-1G>T)	.	.	0.999990361384395	0.938
18	18586559	C	G	18	21006598	y	y	splicing	ROCK1(NM_005406:exon17:c.1639-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1639-1G>C)	.	.	0.999990361384395	0.938
18	18586559	C	T	18	21006598	y	y	splicing	ROCK1(NM_005406:exon17:c.1639-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1639-1G>A)	.	.	0.999990361384395	0.938
18	18586560	T	A	18	21006599	y	y	splicing	ROCK1(NM_005406:exon17:c.1639-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1639-2A>T)	.	.	0.999988247793601	0.932
18	18586560	T	C	18	21006599	y	y	splicing	ROCK1(NM_005406:exon17:c.1639-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1639-2A>G)	.	.	0.999988247793601	0.932
18	18586560	T	G	18	21006599	y	y	splicing	ROCK1(NM_005406:exon17:c.1639-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon17:c.1639-2A>C)	.	.	0.999988247793601	0.932
18	18586561	A	C	18	21006600	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997272983780831	0.728
18	18586561	A	G	18	21006600	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.06371931551886E-5	0.008
18	18586561	A	T	18	21006600	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0030636358057805	0.25
18	18586562	T	A	18	21006601	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.89422991539487E-4	0.088
18	18586562	T	C	18	21006601	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999397293161173	0.982
18	18586562	T	G	18	21006601	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.6250520904928E-4	0.022
18	18586563	T	A	18	21006602	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00258716129358143	0.036
18	18586563	T	C	18	21006602	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998580062107882	0.856
18	18586563	T	G	18	21006602	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00347460451286571	0.02
18	18586564	T	A	18	21006603	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.69205221001052E-5	0.0
18	18586564	T	C	18	21006603	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.60668689939679E-5	0.01
18	18586564	T	G	18	21006603	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.17965704660319E-4	0.004
18	18586565	A	C	18	21006604	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0116435635784852	0.138
18	18586565	A	G	18	21006604	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.91891729745301E-5	0.0
18	18586565	A	T	18	21006604	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00776973317118809	0.124
18	18586566	A	C	18	21006605	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.325187703824681	0.464
18	18586566	A	G	18	21006605	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00194916453154225	0.04
18	18586566	A	T	18	21006605	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.555726298355049	0.434
18	18586567	A	C	18	21006606	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998243235187183	0.882
18	18586567	A	G	18	21006606	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.103404339837357	0.324
18	18586567	A	T	18	21006606	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995123102329928	0.866
18	18586568	A	C	18	21006607	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0499416124488324	0.506
18	18586568	A	G	18	21006607	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.70261200944703E-4	0.124
18	18586568	A	T	18	21006607	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.334412210024634	0.652
18	18586569	A	C	18	21006608	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.696316770373559	0.734
18	18586569	A	G	18	21006608	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.174864967665033	0.288
18	18586569	A	T	18	21006608	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.979009134374589	0.906
18	18586570	G	A	18	21006609	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.48541002439518E-5	0.006
18	18586570	G	C	18	21006609	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.51246616163076E-4	0.084
18	18586570	G	T	18	21006609	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00439079221843075	0.056
18	18586652	A	C	18	21006691	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.80257671126134E-4	0.022
18	18586652	A	G	18	21006691	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.80257671126134E-4	0.022
18	18586652	A	T	18	21006691	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.89371736124219E-4	0.018
18	18586653	C	A	18	21006692	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.7166506715318E-4	0.028
18	18586653	C	G	18	21006692	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.7607186702848E-4	0.038
18	18586653	C	T	18	21006692	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.35333863765921E-4	0.036
18	18586654	A	C	18	21006693	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00840611678035073	0.188
18	18586654	A	G	18	21006693	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0403752696928521	0.306
18	18586654	A	T	18	21006693	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0417764049605489	0.324
18	18586655	C	A	18	21006694	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.821523941921718	0.538
18	18586655	C	G	18	21006694	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.566713005281213	0.446
18	18586655	C	T	18	21006694	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.692884636381396	0.526
18	18586656	T	A	18	21006695	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0397062485184992	0.206
18	18586656	T	C	18	21006695	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0632850936057941	0.244
18	18586656	T	G	18	21006695	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0129394573989109	0.232
18	18586657	T	A	18	21006696	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.293376278617254	0.468
18	18586657	T	C	18	21006696	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00128179981443141	0.064
18	18586657	T	G	18	21006696	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.589928189267524	0.516
18	18586658	A	C	18	21006697	y	y	splicing	ROCK1(NM_005406:exon16:c.1638+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1638+2T>G)	.	.	0.999988247793601	0.93
18	18586658	A	G	18	21006697	y	y	splicing	ROCK1(NM_005406:exon16:c.1638+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1638+2T>C)	.	.	0.994877988051647	0.716
18	18586658	A	T	18	21006697	y	y	splicing	ROCK1(NM_005406:exon16:c.1638+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1638+2T>A)	.	.	0.999988247793601	0.93
18	18586659	C	A	18	21006698	y	y	splicing	ROCK1(NM_005406:exon16:c.1638+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1638+1G>T)	.	.	0.999990361384395	0.938
18	18586659	C	G	18	21006698	y	y	splicing	ROCK1(NM_005406:exon16:c.1638+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1638+1G>C)	.	.	0.999990361384395	0.938
18	18586659	C	T	18	21006698	y	y	splicing	ROCK1(NM_005406:exon16:c.1638+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1638+1G>A)	.	.	0.999990361384395	0.938
18	18586660	C	A	18	21006699	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.G1638T:p.Q546H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.G1638T:p.Q546H;	0.993931489967168	0.756
18	18586660	C	G	18	21006699	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.G1638C:p.Q546H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.G1638C:p.Q546H;	0.997170412062223	0.876
18	18586660	C	T	18	21006699	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon15:c.G1638A:p.Q546Q;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.G1638A:p.Q546Q;	0.68396261190952	0.484
18	18586661	T	A	18	21006700	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.A1637T:p.Q546L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.A1637T:p.Q546L;	0.986457469967986	0.57
18	18586661	T	C	18	21006700	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.A1637G:p.Q546R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.A1637G:p.Q546R;	0.988703752995167	0.722
18	18586661	T	G	18	21006700	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.A1637C:p.Q546P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.A1637C:p.Q546P;	0.981084094917767	0.688
18	18586662	G	A	18	21006701	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon15:c.C1636T:p.Q546X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon15:c.C1636T:p.Q546X;	0.998793375966976	0.742
18	18586662	G	C	18	21006701	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.C1636G:p.Q546E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.C1636G:p.Q546E;	0.926539208504767	0.63
18	18586662	G	T	18	21006701	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.C1636A:p.Q546K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.C1636A:p.Q546K;	0.962742850491569	0.796
18	18586750	A	C	18	21006789	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon15:c.T1548G:p.V516V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.T1548G:p.V516V;	7.88016958942161E-4	0.058
18	18586750	A	G	18	21006789	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon15:c.T1548C:p.V516V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.T1548C:p.V516V;	0.00292621282474688	0.092
18	18586750	A	T	18	21006789	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon15:c.T1548A:p.V516V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.T1548A:p.V516V;	3.11530286488441E-4	0.044
18	18586751	A	C	18	21006790	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.T1547G:p.V516G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.T1547G:p.V516G;	0.774308300182822	0.598
18	18586751	A	G	18	21006790	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.T1547C:p.V516A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.T1547C:p.V516A;	0.895757949701697	0.584
18	18586751	A	T	18	21006790	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon15:c.T1547A:p.V516D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon15:c.T1547A:p.V516D;	0.747911148786968	0.706
18	18586752	C	A	18	21006791	y	y	splicing	ROCK1(NM_005406:exon16:c.1547-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1547-1G>T)	.	.	0.999990361384395	0.938
18	18586752	C	G	18	21006791	y	y	splicing	ROCK1(NM_005406:exon16:c.1547-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1547-1G>C)	.	.	0.999990361384395	0.938
18	18586752	C	T	18	21006791	y	y	splicing	ROCK1(NM_005406:exon16:c.1547-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1547-1G>A)	.	.	0.999990361384395	0.938
18	18586753	T	A	18	21006792	y	y	splicing	ROCK1(NM_005406:exon16:c.1547-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1547-2A>T)	.	.	0.999988247793601	0.93
18	18586753	T	C	18	21006792	y	y	splicing	ROCK1(NM_005406:exon16:c.1547-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1547-2A>G)	.	.	0.999988247793601	0.93
18	18586753	T	G	18	21006792	y	y	splicing	ROCK1(NM_005406:exon16:c.1547-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon16:c.1547-2A>C)	.	.	0.999988247793601	0.93
18	18586754	A	C	18	21006793	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.989961382584962	0.68
18	18586754	A	G	18	21006793	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.24524349221853E-4	0.006
18	18586754	A	T	18	21006793	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00320320582247914	0.216
18	18586755	G	A	18	21006794	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.3997418259948E-4	0.046
18	18586755	G	C	18	21006794	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00436601213951776	0.116
18	18586755	G	T	18	21006794	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.48594430701587E-4	0.102
18	18586756	A	C	18	21006795	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00477284361290606	0.238
18	18586756	A	G	18	21006795	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.74971881057434E-4	0.032
18	18586756	A	T	18	21006795	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00513809429713132	0.244
18	18586757	A	C	18	21006796	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0174832219804326	0.15
18	18586757	A	G	18	21006796	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.71627214412509E-4	0.006
18	18586757	A	T	18	21006796	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0256243443754411	0.114
18	18586758	A	C	18	21006797	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.013519486454124	0.144
18	18586758	A	G	18	21006797	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.02590408026643E-4	0.024
18	18586758	A	T	18	21006797	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.022402417753454	0.172
18	18586759	A	C	18	21006798	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999658354533796	0.984
18	18586759	A	G	18	21006798	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.82542324531997E-5	0.0
18	18586759	A	T	18	21006798	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00539770749857494	0.094
18	18586760	T	A	18	21006799	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.05578628146916E-5	0.0
18	18586760	T	C	18	21006799	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.3995392500311E-5	0.002
18	18586760	T	G	18	21006799	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.96988053028807E-5	0.0
18	18586761	G	A	18	21006800	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.96504241604331E-5	0.004
18	18586761	G	C	18	21006800	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.0861098788384E-4	0.01
18	18586761	G	T	18	21006800	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.67785647585878E-4	0.03
18	18586762	A	C	18	21006801	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00992135065755216	0.248
18	18586762	A	G	18	21006801	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00469510251239285	0.136
18	18586762	A	T	18	21006801	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0168584391198004	0.382
18	18586763	A	C	18	21006802	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.05506669413966E-4	0.16
18	18586763	A	G	18	21006802	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.60129219630197E-5	0.02
18	18586763	A	T	18	21006802	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.1315543206863E-4	0.1
18	18588012	C	A	18	21008051	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.53838751976699E-5	0.0
18	18588012	C	G	18	21008051	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.3427982531725E-5	0.0
18	18588012	C	T	18	21008051	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.97645748960506E-5	0.0
18	18588013	A	C	18	21008052	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00189885966285379	0.008
18	18588013	A	G	18	21008052	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00296412472145802	0.01
18	18588013	A	T	18	21008052	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00396235492206331	0.012
18	18588014	A	C	18	21008053	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.62454328887194E-4	0.138
18	18588014	A	G	18	21008053	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0780698706141923	0.21
18	18588014	A	T	18	21008053	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0449303357583188	0.146
18	18588015	T	A	18	21008054	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.46720863038974E-4	0.008
18	18588015	T	C	18	21008054	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.24569001460971E-4	0.054
18	18588015	T	G	18	21008054	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.61808869408794E-4	0.024
18	18588016	T	A	18	21008055	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.816559878690133	0.51
18	18588016	T	C	18	21008055	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.681655971095819	0.456
18	18588016	T	G	18	21008055	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.441137507225446	0.474
18	18588017	T	A	18	21008056	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.895401074212866	0.508
18	18588017	T	C	18	21008056	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0627268122451324	0.366
18	18588017	T	G	18	21008056	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.907374989693529	0.538
18	18588018	A	C	18	21008057	y	y	splicing	ROCK1(NM_005406:exon15:c.1546+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1546+2T>G)	.	.	0.99994568797423	0.946
18	18588018	A	G	18	21008057	y	y	splicing	ROCK1(NM_005406:exon15:c.1546+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1546+2T>C)	.	.	0.972288855531604	0.726
18	18588018	A	T	18	21008057	y	y	splicing	ROCK1(NM_005406:exon15:c.1546+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1546+2T>A)	.	.	0.99994568797423	0.942
18	18588019	C	A	18	21008058	y	y	splicing	ROCK1(NM_005406:exon15:c.1546+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1546+1G>T)	.	.	0.999989072007339	0.934
18	18588019	C	G	18	21008058	y	y	splicing	ROCK1(NM_005406:exon15:c.1546+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1546+1G>C)	.	.	0.999989072007339	0.934
18	18588019	C	T	18	21008058	y	y	splicing	ROCK1(NM_005406:exon15:c.1546+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1546+1G>A)	.	.	0.999989072007339	0.934
18	18588020	C	A	18	21008059	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.G1546T:p.V516F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.G1546T:p.V516F;	0.999977474472162	0.99
18	18588020	C	G	18	21008059	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.G1546C:p.V516L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.G1546C:p.V516L;	0.999989846439316	0.944
18	18588020	C	T	18	21008059	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.G1546A:p.V516I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.G1546A:p.V516I;	0.999975956940505	0.998
18	18588021	T	A	18	21008060	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.A1545T:p.E515D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.A1545T:p.E515D;	0.886157181653332	0.662
18	18588021	T	C	18	21008060	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon14:c.A1545G:p.E515E;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.A1545G:p.E515E;	0.947638967503765	0.654
18	18588021	T	G	18	21008060	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.A1545C:p.E515D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.A1545C:p.E515D;	0.355677038889383	0.516
18	18588022	T	A	18	21008061	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.A1544T:p.E515V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.A1544T:p.E515V;	0.997049422385462	0.712
18	18588022	T	C	18	21008061	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.A1544G:p.E515G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.A1544G:p.E515G;	0.442123752992534	0.428
18	18588022	T	G	18	21008061	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.A1544C:p.E515A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.A1544C:p.E515A;	0.811204767834095	0.514
18	18588154	C	A	18	21008193	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.G1412T:p.G471V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.G1412T:p.G471V;	0.0029140845151505	0.02
18	18588154	C	G	18	21008193	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.G1412C:p.G471A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.G1412C:p.G471A;	6.74506643097614E-4	0.05
18	18588154	C	T	18	21008193	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.G1412A:p.G471E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.G1412A:p.G471E;	8.21304188392605E-4	0.06
18	18588155	C	A	18	21008194	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon14:c.G1411T:p.G471X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon14:c.G1411T:p.G471X;	0.999890563154764	0.99
18	18588155	C	G	18	21008194	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.G1411C:p.G471R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.G1411C:p.G471R;	0.985925860098366	0.722
18	18588155	C	T	18	21008194	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon14:c.G1411A:p.G471R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon14:c.G1411A:p.G471R;	0.928960996254651	0.676
18	18588156	C	A	18	21008195	y	y	splicing	ROCK1(NM_005406:exon15:c.1411-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1411-1G>T)	.	.	0.999987670894945	0.94
18	18588156	C	G	18	21008195	y	y	splicing	ROCK1(NM_005406:exon15:c.1411-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1411-1G>C)	.	.	0.999987670894945	0.94
18	18588156	C	T	18	21008195	y	y	splicing	ROCK1(NM_005406:exon15:c.1411-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1411-1G>A)	.	.	0.999987670894945	0.94
18	18588157	T	A	18	21008196	y	y	splicing	ROCK1(NM_005406:exon15:c.1411-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1411-2A>T)	.	.	0.999986741007567	0.944
18	18588157	T	C	18	21008196	y	y	splicing	ROCK1(NM_005406:exon15:c.1411-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1411-2A>G)	.	.	0.999986741007567	0.944
18	18588157	T	G	18	21008196	y	y	splicing	ROCK1(NM_005406:exon15:c.1411-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon15:c.1411-2A>C)	.	.	0.999986741007567	0.944
18	18588158	G	A	18	21008197	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00275851611156007	0.15
18	18588158	G	C	18	21008197	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999668926636102	0.962
18	18588158	G	T	18	21008197	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.97402331385212	0.758
18	18588159	G	A	18	21008198	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.22465242377561E-4	0.05
18	18588159	G	C	18	21008198	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.3512414312605E-4	0.048
18	18588159	G	T	18	21008198	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.61069577081749E-4	0.008
18	18588160	A	C	18	21008199	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.959664179239297	0.71
18	18588160	A	G	18	21008199	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.120573015791795	0.266
18	18588160	A	T	18	21008199	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.95967688801884	0.776
18	18588161	A	C	18	21008200	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999902204231322	0.95
18	18588161	A	G	18	21008200	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00488766458552662	0.08
18	18588161	A	T	18	21008200	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.986321896216175	0.822
18	18588162	T	A	18	21008201	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00147503756882734	0.036
18	18588162	T	C	18	21008201	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998908780955145	0.958
18	18588162	T	G	18	21008201	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.36093517684148E-4	0.004
18	18588163	T	A	18	21008202	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.7438394674264E-5	0.024
18	18588163	T	C	18	21008202	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.76876882379351E-4	0.038
18	18588163	T	G	18	21008202	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.33246640225722E-4	0.024
18	18588164	A	C	18	21008203	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999919788920244	0.95
18	18588164	A	G	18	21008203	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.83899915925395E-5	0.062
18	18588164	A	T	18	21008203	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.716091154619487	0.416
18	18588165	T	A	18	21008204	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.95197235375445E-4	0.148
18	18588165	T	C	18	21008204	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.28995736254573E-4	0.074
18	18588165	T	G	18	21008204	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.43082567797033E-4	0.126
18	18588166	A	C	18	21008205	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.994674757293159	0.79
18	18588166	A	G	18	21008205	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.176980147414768	0.326
18	18588166	A	T	18	21008205	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993884734252455	0.806
18	18588167	A	C	18	21008206	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999968736522476	0.978
18	18588167	A	G	18	21008206	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00145696281596382	0.152
18	18588167	A	T	18	21008206	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.777864063337083	0.556
18	18595384	A	C	18	21015423	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0115587618842176	0.122
18	18595384	A	G	18	21015423	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0115587618842176	0.122
18	18595384	A	T	18	21015423	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0684283109419972	0.234
18	18595385	A	C	18	21015424	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00258897020080919	0.01
18	18595385	A	G	18	21015424	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0033321047372076	0.008
18	18595385	A	T	18	21015424	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0033321047372076	0.004
18	18595386	A	C	18	21015425	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00802062976425899	0.244
18	18595386	A	G	18	21015425	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.190821095410919	0.378
18	18595386	A	T	18	21015425	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.20796057684147	0.332
18	18595387	A	C	18	21015426	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.49786030471438E-4	0.032
18	18595387	A	G	18	21015426	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00378225722377844	0.074
18	18595387	A	T	18	21015426	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00593394432979659	0.14
18	18595388	G	A	18	21015427	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00610891099091097	0.192
18	18595388	G	C	18	21015427	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.09193147957322E-4	0.118
18	18595388	G	T	18	21015427	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.10272549271102E-4	0.038
18	18595389	T	A	18	21015428	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999797695409615	0.976
18	18595389	T	C	18	21015428	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998774060660455	0.958
18	18595389	T	G	18	21015428	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999885017286858	0.968
18	18595390	A	C	18	21015429	y	y	splicing	ROCK1(NM_005406:exon14:c.1410+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1410+2T>G)	.	.	0.999988247793601	0.932
18	18595390	A	G	18	21015429	y	y	splicing	ROCK1(NM_005406:exon14:c.1410+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1410+2T>C)	.	.	0.992783534660112	0.714
18	18595390	A	T	18	21015429	y	y	splicing	ROCK1(NM_005406:exon14:c.1410+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1410+2T>A)	.	.	0.999988247793601	0.932
18	18595391	C	A	18	21015430	y	y	splicing	ROCK1(NM_005406:exon14:c.1410+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1410+1G>T)	.	.	0.999990361384395	0.938
18	18595391	C	G	18	21015430	y	y	splicing	ROCK1(NM_005406:exon14:c.1410+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1410+1G>C)	.	.	0.999990361384395	0.938
18	18595391	C	T	18	21015430	y	y	splicing	ROCK1(NM_005406:exon14:c.1410+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1410+1G>A)	.	.	0.999990361384395	0.938
18	18595392	C	A	18	21015431	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.G1410T:p.E470D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.G1410T:p.E470D;	0.999993456460832	0.992
18	18595392	C	G	18	21015431	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.G1410C:p.E470D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.G1410C:p.E470D;	0.999996519591097	1.0
18	18595392	C	T	18	21015431	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon13:c.G1410A:p.E470E;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.G1410A:p.E470E;	0.999970521826043	1.0
18	18595393	T	A	18	21015432	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.A1409T:p.E470V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1409T:p.E470V;	0.999909196918191	1.0
18	18595393	T	C	18	21015432	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.A1409G:p.E470G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1409G:p.E470G;	0.999797593594758	0.996
18	18595393	T	G	18	21015432	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.A1409C:p.E470A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1409C:p.E470A;	0.999810379628691	0.996
18	18595394	C	A	18	21015433	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon13:c.G1408T:p.E470X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon13:c.G1408T:p.E470X;	0.40641908036896	0.486
18	18595394	C	G	18	21015433	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.G1408C:p.E470Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.G1408C:p.E470Q;	0.087825681453679	0.424
18	18595394	C	T	18	21015433	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.G1408A:p.E470K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.G1408A:p.E470K;	0.0687577236849776	0.432
18	18595439	T	A	18	21015478	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.A1363T:p.T455S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1363T:p.T455S;	3.45609448566362E-4	0.016
18	18595439	T	C	18	21015478	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.A1363G:p.T455A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1363G:p.T455A;	0.00100808877919693	0.016
18	18595439	T	G	18	21015478	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.A1363C:p.T455P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1363C:p.T455P;	0.00708579107101264	0.064
18	18595440	T	A	18	21015479	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.A1362T:p.R454S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1362T:p.R454S;	0.119122127429815	0.496
18	18595440	T	C	18	21015479	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon13:c.A1362G:p.R454R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1362G:p.R454R;	0.00394093220112237	0.018
18	18595440	T	G	18	21015479	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon13:c.A1362C:p.R454S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon13:c.A1362C:p.R454S;	0.155102581215393	0.416
18	18595441	C	A	18	21015480	y	y	splicing	ROCK1(NM_005406:exon14:c.1362-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1362-1G>T)	.	.	0.999986675681007	0.934
18	18595441	C	G	18	21015480	y	y	splicing	ROCK1(NM_005406:exon14:c.1362-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1362-1G>C)	.	.	0.999986675681007	0.934
18	18595441	C	T	18	21015480	y	y	splicing	ROCK1(NM_005406:exon14:c.1362-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1362-1G>A)	.	.	0.999986675681007	0.934
18	18595442	T	A	18	21015481	y	y	splicing	ROCK1(NM_005406:exon14:c.1362-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1362-2A>T)	.	.	0.999988247793601	0.928
18	18595442	T	C	18	21015481	y	y	splicing	ROCK1(NM_005406:exon14:c.1362-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1362-2A>G)	.	.	0.999988247793601	0.928
18	18595442	T	G	18	21015481	y	y	splicing	ROCK1(NM_005406:exon14:c.1362-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon14:c.1362-2A>C)	.	.	0.999988247793601	0.928
18	18595443	G	A	18	21015482	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0175995410296988	0.15
18	18595443	G	C	18	21015482	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999752160138193	0.968
18	18595443	G	T	18	21015482	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.979953320854899	0.676
18	18595444	T	A	18	21015483	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.8770298346592E-5	0.018
18	18595444	T	C	18	21015483	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.16693363236368E-5	0.01
18	18595444	T	G	18	21015483	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.49291376693419E-4	0.0
18	18595445	A	C	18	21015484	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0160667274034061	0.308
18	18595445	A	G	18	21015484	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00292430341561887	0.064
18	18595445	A	T	18	21015484	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0186182143477497	0.29
18	18595446	A	C	18	21015485	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0561713818128844	0.334
18	18595446	A	G	18	21015485	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00492620008750309	0.156
18	18595446	A	T	18	21015485	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.2166018774111	0.346
18	18595447	A	C	18	21015486	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00564348894910548	0.078
18	18595447	A	G	18	21015486	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.11687692762206E-4	0.002
18	18595447	A	T	18	21015486	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0236381486896792	0.126
18	18595448	A	C	18	21015487	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.034982628287722	0.12
18	18595448	A	G	18	21015487	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00783655403479549	0.06
18	18595448	A	T	18	21015487	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0482694163799553	0.242
18	18595449	A	C	18	21015488	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00189364648480778	0.13
18	18595449	A	G	18	21015488	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.7441490012752E-4	0.092
18	18595449	A	T	18	21015488	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00185467299253593	0.136
18	18595450	C	A	18	21015489	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.464851041549778	0.538
18	18595450	C	G	18	21015489	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.350641376264527	0.538
18	18595450	C	T	18	21015489	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.328458725276944	0.478
18	18595451	A	C	18	21015490	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.650761741706684	0.618
18	18595451	A	G	18	21015490	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.169909257013345	0.49
18	18595451	A	T	18	21015490	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999953270709716	0.946
18	18595452	A	C	18	21015491	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.316498690959247	0.476
18	18595452	A	G	18	21015491	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.233575310941677	0.458
18	18595452	A	T	18	21015491	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.632714950645615	0.524
18	18600104	A	C	18	21020143	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.96783023845965E-4	0.002
18	18600104	A	G	18	21020143	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00391186463015317	0.002
18	18600104	A	T	18	21020143	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00303982491891144	0.0
18	18600105	T	A	18	21020144	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.11122290409479E-4	0.118
18	18600105	T	C	18	21020144	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.5539516075367E-5	0.042
18	18600105	T	G	18	21020144	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.63274751867518E-5	0.0
18	18600106	T	A	18	21020145	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00108858821910551	0.006
18	18600106	T	C	18	21020145	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00382791325201422	0.03
18	18600106	T	G	18	21020145	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0185720227085438	0.144
18	18600107	C	A	18	21020146	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999059711407063	0.908
18	18600107	C	G	18	21020146	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99819163338365	0.886
18	18600107	C	T	18	21020146	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999678236996815	0.972
18	18600108	T	A	18	21020147	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995035465590873	0.82
18	18600108	T	C	18	21020147	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.992885057433434	0.8
18	18600108	T	G	18	21020147	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.986620580857339	0.736
18	18600109	C	A	18	21020148	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.729863904786101	0.538
18	18600109	C	G	18	21020148	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.325513261902489	0.522
18	18600109	C	T	18	21020148	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.82490114268222E-5	0.008
18	18600110	A	C	18	21020149	y	y	splicing	ROCK1(NM_005406:exon13:c.1361+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1361+2T>G)	.	.	0.999988247793601	0.93
18	18600110	A	G	18	21020149	y	y	splicing	ROCK1(NM_005406:exon13:c.1361+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1361+2T>C)	.	.	0.99991520749976	0.858
18	18600110	A	T	18	21020149	y	y	splicing	ROCK1(NM_005406:exon13:c.1361+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1361+2T>A)	.	.	0.999988247793601	0.93
18	18600111	C	A	18	21020150	y	y	splicing	ROCK1(NM_005406:exon13:c.1361+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1361+1G>T)	.	.	0.999989072007339	0.934
18	18600111	C	G	18	21020150	y	y	splicing	ROCK1(NM_005406:exon13:c.1361+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1361+1G>C)	.	.	0.999989072007339	0.934
18	18600111	C	T	18	21020150	y	y	splicing	ROCK1(NM_005406:exon13:c.1361+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1361+1G>A)	.	.	0.999989072007339	0.934
18	18600112	C	A	18	21020151	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.G1361T:p.R454I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.G1361T:p.R454I;	0.999939341377812	0.97
18	18600112	C	G	18	21020151	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.G1361C:p.R454T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.G1361C:p.R454T;	0.999996571095386	1.0
18	18600112	C	T	18	21020151	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.G1361A:p.R454K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.G1361A:p.R454K;	0.999948952960098	0.99
18	18600113	T	A	18	21020152	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon12:c.A1360T:p.R454X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon12:c.A1360T:p.R454X;	0.999679653392984	0.97
18	18600113	T	C	18	21020152	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.A1360G:p.R454G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.A1360G:p.R454G;	0.999774985309415	0.978
18	18600113	T	G	18	21020152	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon12:c.A1360C:p.R454R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.A1360C:p.R454R;	0.995014083202938	0.94
18	18600114	G	A	18	21020153	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon12:c.C1359T:p.C453C;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.C1359T:p.C453C;	0.792654968941042	0.576
18	18600114	G	C	18	21020153	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.C1359G:p.C453W;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.C1359G:p.C453W;	0.150659796854547	0.31
18	18600114	G	T	18	21020153	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon12:c.C1359A:p.C453X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon12:c.C1359A:p.C453X;	0.355817933315255	0.646
18	18600199	T	A	18	21020238	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.A1274T:p.Q425L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.A1274T:p.Q425L;	0.00433034337451179	0.088
18	18600199	T	C	18	21020238	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.A1274G:p.Q425R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.A1274G:p.Q425R;	0.00535832406619772	0.056
18	18600199	T	G	18	21020238	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.A1274C:p.Q425P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.A1274C:p.Q425P;	0.00570370073432029	0.078
18	18600200	G	A	18	21020239	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon12:c.C1273T:p.Q425X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon12:c.C1273T:p.Q425X;	0.992185418739656	0.826
18	18600200	G	C	18	21020239	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.C1273G:p.Q425E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.C1273G:p.Q425E;	0.00261634388310131	0.158
18	18600200	G	T	18	21020239	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon12:c.C1273A:p.Q425K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon12:c.C1273A:p.Q425K;	7.82613237929049E-4	0.148
18	18600201	C	A	18	21020240	y	y	splicing	ROCK1(NM_005406:exon13:c.1273-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1273-1G>T)	.	.	0.999980303772886	0.906
18	18600201	C	G	18	21020240	y	y	splicing	ROCK1(NM_005406:exon13:c.1273-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1273-1G>C)	.	.	0.999980303772886	0.906
18	18600201	C	T	18	21020240	y	y	splicing	ROCK1(NM_005406:exon13:c.1273-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1273-1G>A)	.	.	0.999980303772886	0.906
18	18600202	T	A	18	21020241	y	y	splicing	ROCK1(NM_005406:exon13:c.1273-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1273-2A>T)	.	.	0.999986756833409	0.908
18	18600202	T	C	18	21020241	y	y	splicing	ROCK1(NM_005406:exon13:c.1273-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1273-2A>G)	.	.	0.999986756833409	0.908
18	18600202	T	G	18	21020241	y	y	splicing	ROCK1(NM_005406:exon13:c.1273-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon13:c.1273-2A>C)	.	.	0.999986756833409	0.908
18	18600203	T	A	18	21020242	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00151716788483771	0.028
18	18600203	T	C	18	21020242	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.289390086095165	0.218
18	18600203	T	G	18	21020242	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0043888108399183	0.072
18	18600204	T	A	18	21020243	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00615508286808062	0.052
18	18600204	T	C	18	21020243	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.84750571742492E-4	0.076
18	18600204	T	G	18	21020243	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00111346720565342	0.042
18	18600205	A	C	18	21020244	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998790738720603	0.796
18	18600205	A	G	18	21020244	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.208622135629496	0.27
18	18600205	A	T	18	21020244	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996728213453843	0.736
18	18600206	A	C	18	21020245	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99985405439185	0.97
18	18600206	A	G	18	21020245	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0111219139229502	0.112
18	18600206	A	T	18	21020245	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.983053976479272	0.714
18	18600207	T	A	18	21020246	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00293343679725115	0.068
18	18600207	T	C	18	21020246	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999633223626243	0.968
18	18600207	T	G	18	21020246	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00216150009230137	0.02
18	18600208	T	A	18	21020247	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.37066808463699E-4	0.072
18	18600208	T	C	18	21020247	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998980890431474	0.966
18	18600208	T	G	18	21020247	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.7094541672111E-4	0.008
18	18600209	T	A	18	21020248	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.63867558814194E-5	0.054
18	18600209	T	C	18	21020248	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.20345344315289E-5	0.046
18	18600209	T	G	18	21020248	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.63194480689123E-5	0.056
18	18600210	A	C	18	21020249	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998628385112393	0.828
18	18600210	A	G	18	21020249	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00969909473689113	0.216
18	18600210	A	T	18	21020249	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.991059822490347	0.806
18	18600211	A	C	18	21020250	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.628915366601619	0.552
18	18600211	A	G	18	21020250	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00670478228398739	0.22
18	18600211	A	T	18	21020250	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.915438197033652	0.592
18	18600212	A	C	18	21020251	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99093046713667	0.802
18	18600212	A	G	18	21020251	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.144034164249391	0.316
18	18600212	A	T	18	21020251	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995481690740854	0.83
18	18603573	A	C	18	21023612	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0108086139332022	0.034
18	18603573	A	G	18	21023612	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0102376439405731	0.032
18	18603573	A	T	18	21023612	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0100806165319733	0.022
18	18603574	T	A	18	21023613	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00325892936152411	0.33
18	18603574	T	C	18	21023613	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00113751905633092	0.152
18	18603574	T	G	18	21023613	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.96488910036105E-4	0.004
18	18603575	A	C	18	21023614	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.663913502718576	0.604
18	18603575	A	G	18	21023614	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0942431041851966	0.364
18	18603575	A	T	18	21023614	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.600645865263023	0.526
18	18603576	C	A	18	21023615	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999979669128783	0.99
18	18603576	C	G	18	21023615	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999979669128783	0.982
18	18603576	C	T	18	21023615	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999967018685523	0.998
18	18603577	C	A	18	21023616	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.29726288182545E-4	0.03
18	18603577	C	G	18	21023616	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.06528140112087E-4	0.134
18	18603577	C	T	18	21023616	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.31146142264723E-4	0.092
18	18603578	T	A	18	21023617	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999417040572392	0.946
18	18603578	T	C	18	21023617	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998269778228797	0.956
18	18603578	T	G	18	21023617	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.9997595441961	0.956
18	18603579	A	C	18	21023618	y	y	splicing	ROCK1(NM_005406:exon12:c.1272+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1272+2T>G)	.	.	0.999988247793601	0.928
18	18603579	A	G	18	21023618	y	y	splicing	ROCK1(NM_005406:exon12:c.1272+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1272+2T>C)	.	.	0.994669226766359	0.628
18	18603579	A	T	18	21023618	y	y	splicing	ROCK1(NM_005406:exon12:c.1272+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1272+2T>A)	.	.	0.999988247793601	0.928
18	18603580	C	A	18	21023619	y	y	splicing	ROCK1(NM_005406:exon12:c.1272+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1272+1G>T)	.	.	0.999986675681007	0.934
18	18603580	C	G	18	21023619	y	y	splicing	ROCK1(NM_005406:exon12:c.1272+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1272+1G>C)	.	.	0.999986675681007	0.934
18	18603580	C	T	18	21023619	y	y	splicing	ROCK1(NM_005406:exon12:c.1272+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1272+1G>A)	.	.	0.999986675681007	0.934
18	18603581	C	A	18	21023620	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.G1272T:p.L424F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.G1272T:p.L424F;	0.999961258300486	0.982
18	18603581	C	G	18	21023620	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.G1272C:p.L424F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.G1272C:p.L424F;	0.999980402269304	0.982
18	18603581	C	T	18	21023620	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon11:c.G1272A:p.L424L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.G1272A:p.L424L;	0.99996558263053	0.996
18	18603582	A	C	18	21023621	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.T1271G:p.L424W;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.T1271G:p.L424W;	0.947433464412849	0.81
18	18603582	A	G	18	21023621	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.T1271C:p.L424S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.T1271C:p.L424S;	0.00781987244286929	0.132
18	18603582	A	T	18	21023621	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon11:c.T1271A:p.L424X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon11:c.T1271A:p.L424X;	0.767943031196543	0.652
18	18603583	A	C	18	21023622	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.T1270G:p.L424V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.T1270G:p.L424V;	3.09809018614993E-4	0.036
18	18603583	A	G	18	21023622	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon11:c.T1270C:p.L424L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.T1270C:p.L424L;	7.06097509717283E-5	0.008
18	18603583	A	T	18	21023622	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.T1270A:p.L424M;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.T1270A:p.L424M;	1.55694581077161E-4	0.012
18	18603640	A	C	18	21023679	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.T1213G:p.Y405D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.T1213G:p.Y405D;	0.0110189767627794	0.02
18	18603640	A	G	18	21023679	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.T1213C:p.Y405H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.T1213C:p.Y405H;	0.00768218505480535	0.096
18	18603640	A	T	18	21023679	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.T1213A:p.Y405N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.T1213A:p.Y405N;	0.0115135752294146	0.026
18	18603641	T	A	18	21023680	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.A1212T:p.R404S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.A1212T:p.R404S;	0.00428708225682884	0.15
18	18603641	T	C	18	21023680	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon11:c.A1212G:p.R404R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.A1212G:p.R404R;	8.56116976179142E-5	0.014
18	18603641	T	G	18	21023680	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon11:c.A1212C:p.R404S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon11:c.A1212C:p.R404S;	0.00970219055552732	0.102
18	18603642	C	A	18	21023681	y	y	splicing	ROCK1(NM_005406:exon12:c.1212-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1212-1G>T)	.	.	0.999986675681007	0.934
18	18603642	C	G	18	21023681	y	y	splicing	ROCK1(NM_005406:exon12:c.1212-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1212-1G>C)	.	.	0.999986675681007	0.934
18	18603642	C	T	18	21023681	y	y	splicing	ROCK1(NM_005406:exon12:c.1212-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1212-1G>A)	.	.	0.999986675681007	0.934
18	18603643	T	A	18	21023682	y	y	splicing	ROCK1(NM_005406:exon12:c.1212-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1212-2A>T)	.	.	0.999988247793601	0.928
18	18603643	T	C	18	21023682	y	y	splicing	ROCK1(NM_005406:exon12:c.1212-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1212-2A>G)	.	.	0.999988247793601	0.926
18	18603643	T	G	18	21023682	y	y	splicing	ROCK1(NM_005406:exon12:c.1212-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon12:c.1212-2A>C)	.	.	0.999988247793601	0.926
18	18603644	G	A	18	21023683	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00508920766696264	0.024
18	18603644	G	C	18	21023683	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999654649320633	0.932
18	18603644	G	T	18	21023683	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.881026633516912	0.542
18	18603645	A	C	18	21023684	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.27753021737598E-4	0.01
18	18603645	A	G	18	21023684	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.36738512289195E-5	0.012
18	18603645	A	T	18	21023684	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.33571020106783E-4	0.01
18	18603646	G	A	18	21023685	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.57198614296619E-4	0.004
18	18603646	G	C	18	21023685	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0477470258324245	0.104
18	18603646	G	T	18	21023685	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0154128684124608	0.148
18	18603647	G	A	18	21023686	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.43990462080952E-5	0.0
18	18603647	G	C	18	21023686	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.59357841009839E-4	0.096
18	18603647	G	T	18	21023686	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.82333226903866E-4	0.124
18	18603648	G	A	18	21023687	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.90737396847221E-5	0.002
18	18603648	G	C	18	21023687	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.99229876600317E-4	0.13
18	18603648	G	T	18	21023687	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.90681948837461E-4	0.074
18	18603649	A	C	18	21023688	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.11473757263947E-4	0.046
18	18603649	A	G	18	21023688	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.60379435234838E-4	0.004
18	18603649	A	T	18	21023688	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00103839354603402	0.104
18	18603650	A	C	18	21023689	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0144665948183634	0.146
18	18603650	A	G	18	21023689	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.61310917713532E-4	0.076
18	18603650	A	T	18	21023689	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0143667509357032	0.158
18	18603651	A	C	18	21023690	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.42319410180666E-5	0.058
18	18603651	A	G	18	21023690	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.60271533895719E-5	0.03
18	18603651	A	T	18	21023690	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.18378551269091E-4	0.166
18	18603652	G	A	18	21023691	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.16237746695404E-5	0.054
18	18603652	G	C	18	21023691	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.82802238902777E-4	0.048
18	18603652	G	T	18	21023691	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.19767194501134E-5	0.124
18	18603653	A	C	18	21023692	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.37212826863849E-4	0.056
18	18603653	A	G	18	21023692	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.31296384555689E-5	0.026
18	18603653	A	T	18	21023692	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00108369991515265	0.202
18	18608729	A	C	18	21028768	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00133757912346677	0.002
18	18608729	A	G	18	21028768	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00133757912346677	0.002
18	18608729	A	T	18	21028768	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00220285109689569	0.098
18	18608730	T	A	18	21028769	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.45699144761703E-4	0.0
18	18608730	T	C	18	21028769	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.31705321127531E-4	0.0
18	18608730	T	G	18	21028769	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.0433973629896E-4	0.0
18	18608731	A	C	18	21028770	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.025052224318848	0.224
18	18608731	A	G	18	21028770	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.369355759485891	0.352
18	18608731	A	T	18	21028770	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.172042293073367	0.352
18	18608732	C	A	18	21028771	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.933153182603898	0.692
18	18608732	C	G	18	21028771	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.924767864181421	0.822
18	18608732	C	T	18	21028771	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.962485150209691	0.824
18	18608733	T	A	18	21028772	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.164791306412442	0.212
18	18608733	T	C	18	21028772	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.320959689433479	0.278
18	18608733	T	G	18	21028772	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0818463844194983	0.24
18	18608734	T	A	18	21028773	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.896685928779912	0.652
18	18608734	T	C	18	21028773	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00720868155434722	0.146
18	18608734	T	G	18	21028773	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.978629564434677	0.71
18	18608735	A	C	18	21028774	y	y	splicing	ROCK1(NM_005406:exon11:c.1211+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1211+2T>G)	.	.	0.999988247793601	0.928
18	18608735	A	G	18	21028774	y	y	splicing	ROCK1(NM_005406:exon11:c.1211+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1211+2T>C)	.	.	0.99340600729494	0.688
18	18608735	A	T	18	21028774	y	y	splicing	ROCK1(NM_005406:exon11:c.1211+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1211+2T>A)	.	.	0.999988247793601	0.928
18	18608736	C	A	18	21028775	y	y	splicing	ROCK1(NM_005406:exon11:c.1211+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1211+1G>T)	.	.	0.999985532734767	0.936
18	18608736	C	G	18	21028775	y	y	splicing	ROCK1(NM_005406:exon11:c.1211+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1211+1G>C)	.	.	0.999985532734767	0.936
18	18608736	C	T	18	21028775	y	y	splicing	ROCK1(NM_005406:exon11:c.1211+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1211+1G>A)	.	.	0.999985532734767	0.936
18	18608737	C	A	18	21028776	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon10:c.G1211T:p.R404I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.G1211T:p.R404I;	0.988548043621211	0.952
18	18608737	C	G	18	21028776	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon10:c.G1211C:p.R404T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.G1211C:p.R404T;	0.837370980899162	0.632
18	18608737	C	T	18	21028776	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon10:c.G1211A:p.R404K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.G1211A:p.R404K;	0.384447676368004	0.47
18	18608738	T	A	18	21028777	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon10:c.A1210T:p.R404X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon10:c.A1210T:p.R404X;	0.782750725518524	0.522
18	18608738	T	C	18	21028777	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon10:c.A1210G:p.R404G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.A1210G:p.R404G;	0.307895256765409	0.52
18	18608738	T	G	18	21028777	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon10:c.A1210C:p.R404R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.A1210C:p.R404R;	0.358520172729591	0.59
18	18608739	A	C	18	21028778	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon10:c.T1209G:p.R403R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.T1209G:p.R403R;	1.65305044120997E-4	0.02
18	18608739	A	G	18	21028778	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon10:c.T1209C:p.R403R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.T1209C:p.R403R;	6.28063189568018E-5	0.002
18	18608739	A	T	18	21028778	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon10:c.T1209A:p.R403R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.T1209A:p.R403R;	6.28063189568018E-5	0.0
18	18608895	A	C	18	21028934	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon10:c.T1053G:p.T351T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.T1053G:p.T351T;	0.0134049400686525	0.166
18	18608895	A	G	18	21028934	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon10:c.T1053C:p.T351T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.T1053C:p.T351T;	0.0291457360199856	0.236
18	18608895	A	T	18	21028934	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon10:c.T1053A:p.T351T;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.T1053A:p.T351T;	0.0968144569330696	0.326
18	18608896	G	A	18	21028935	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon10:c.C1052T:p.T351I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.C1052T:p.T351I;	0.992335982646659	0.93
18	18608896	G	C	18	21028935	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon10:c.C1052G:p.T351S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.C1052G:p.T351S;	0.958269808214762	0.76
18	18608896	G	T	18	21028935	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon10:c.C1052A:p.T351N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon10:c.C1052A:p.T351N;	0.946949418358601	0.814
18	18608897	C	A	18	21028936	y	y	splicing	ROCK1(NM_005406:exon11:c.1052-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1052-1G>T)	.	.	0.999985532734767	0.936
18	18608897	C	G	18	21028936	y	y	splicing	ROCK1(NM_005406:exon11:c.1052-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1052-1G>C)	.	.	0.999985532734767	0.936
18	18608897	C	T	18	21028936	y	y	splicing	ROCK1(NM_005406:exon11:c.1052-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1052-1G>A)	.	.	0.999985532734767	0.936
18	18608898	T	A	18	21028937	y	y	splicing	ROCK1(NM_005406:exon11:c.1052-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1052-2A>T)	.	.	0.999988247793601	0.928
18	18608898	T	C	18	21028937	y	y	splicing	ROCK1(NM_005406:exon11:c.1052-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1052-2A>G)	.	.	0.999988247793601	0.928
18	18608898	T	G	18	21028937	y	y	splicing	ROCK1(NM_005406:exon11:c.1052-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon11:c.1052-2A>C)	.	.	0.999988247793601	0.928
18	18608899	A	C	18	21028938	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999706591929113	0.864
18	18608899	A	G	18	21028938	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.07964427234399E-4	0.0
18	18608899	A	T	18	21028938	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.321974505075444	0.33
18	18608900	A	C	18	21028939	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.98217048460905E-5	0.004
18	18608900	A	G	18	21028939	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.20358021155847E-5	0.002
18	18608900	A	T	18	21028939	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.30299200570586E-4	0.012
18	18608901	A	C	18	21028940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.929789305025976	0.536
18	18608901	A	G	18	21028940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.06098635251482E-4	0.036
18	18608901	A	T	18	21028940	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.918540548146905	0.542
18	18608902	G	A	18	21028941	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.00655107338954E-5	0.0
18	18608902	G	C	18	21028941	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.7419830308211E-4	0.068
18	18608902	G	T	18	21028941	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.73347748541573E-4	0.082
18	18608903	A	C	18	21028942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.121341120417824	0.248
18	18608903	A	G	18	21028942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.4239699958498E-4	0.002
18	18608903	A	T	18	21028942	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0522429196044588	0.382
18	18608904	C	A	18	21028943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.11598729575621E-4	0.024
18	18608904	C	G	18	21028943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.66868004192407E-5	0.036
18	18608904	C	T	18	21028943	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.02519217964972E-4	0.024
18	18608905	A	C	18	21028944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.30224659676564	0.426
18	18608905	A	G	18	21028944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.0857037217916E-5	0.048
18	18608905	A	T	18	21028944	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999893883365448	0.896
18	18608906	A	C	18	21028945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.877084924906615	0.632
18	18608906	A	G	18	21028945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00276551107291054	0.092
18	18608906	A	T	18	21028945	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.947887345679057	0.706
18	18608907	A	C	18	21028946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.628434150352702	0.54
18	18608907	A	G	18	21028946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.193691210660468	0.3
18	18608907	A	T	18	21028946	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.962240078650449	0.736
18	18608908	A	C	18	21028947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.992102255920179	0.792
18	18608908	A	G	18	21028947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.280841562833299	0.448
18	18608908	A	T	18	21028947	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995388097369633	0.814
18	18619425	A	C	18	21039464	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.13025408110039E-4	0.014
18	18619425	A	G	18	21039464	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.83844774566558E-4	0.018
18	18619425	A	T	18	21039464	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.40875983181211E-4	0.012
18	18619426	A	C	18	21039465	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.7035693754504E-4	0.002
18	18619426	A	G	18	21039465	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.7035693754504E-4	0.0
18	18619426	A	T	18	21039465	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.01233061565404E-4	0.0
18	18619427	A	C	18	21039466	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.620276928589905	0.636
18	18619427	A	G	18	21039466	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.455199277929402	0.462
18	18619427	A	T	18	21039466	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.421178595495145	0.512
18	18619428	C	A	18	21039467	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999982940179558	0.978
18	18619428	C	G	18	21039467	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999982489778049	0.95
18	18619428	C	T	18	21039467	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999981963045962	0.99
18	18619429	T	A	18	21039468	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.988424943896055	0.84
18	18619429	T	C	18	21039468	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.98120255417603	0.826
18	18619429	T	G	18	21039468	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.694025205908215	0.64
18	18619430	T	A	18	21039469	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999236334070197	0.906
18	18619430	T	C	18	21039469	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.234790127563972	0.374
18	18619430	T	G	18	21039469	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999432416537376	0.898
18	18619431	A	C	18	21039470	y	y	splicing	ROCK1(NM_005406:exon10:c.1051+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.1051+2T>G)	.	.	0.999988247793601	0.926
18	18619431	A	G	18	21039470	y	y	splicing	ROCK1(NM_005406:exon10:c.1051+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.1051+2T>C)	.	.	0.992577803696025	0.644
18	18619431	A	T	18	21039470	y	y	splicing	ROCK1(NM_005406:exon10:c.1051+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.1051+2T>A)	.	.	0.999988247793601	0.928
18	18619432	C	A	18	21039471	y	y	splicing	ROCK1(NM_005406:exon10:c.1051+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.1051+1G>T)	.	.	0.999985532734767	0.936
18	18619432	C	G	18	21039471	y	y	splicing	ROCK1(NM_005406:exon10:c.1051+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.1051+1G>C)	.	.	0.999985532734767	0.936
18	18619432	C	T	18	21039471	y	y	splicing	ROCK1(NM_005406:exon10:c.1051+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.1051+1G>A)	.	.	0.999985532734767	0.936
18	18619433	T	A	18	21039472	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.A1051T:p.T351S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.A1051T:p.T351S;	0.706124619129935	0.588
18	18619433	T	C	18	21039472	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.A1051G:p.T351A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.A1051G:p.T351A;	0.251604114029681	0.338
18	18619433	T	G	18	21039472	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.A1051C:p.T351P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.A1051C:p.T351P;	0.694774694021904	0.796
18	18619434	G	A	18	21039473	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon9:c.C1050T:p.D350D;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.C1050T:p.D350D;	8.59710427095348E-4	0.04
18	18619434	G	C	18	21039473	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.C1050G:p.D350E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.C1050G:p.D350E;	8.41072035630139E-5	0.054
18	18619434	G	T	18	21039473	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.C1050A:p.D350E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.C1050A:p.D350E;	2.39352127560299E-5	0.068
18	18619435	T	A	18	21039474	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.A1049T:p.D350V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.A1049T:p.D350V;	0.980750573011202	0.584
18	18619435	T	C	18	21039474	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.A1049G:p.D350G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.A1049G:p.D350G;	0.27755207055755	0.354
18	18619435	T	G	18	21039474	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.A1049C:p.D350A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.A1049C:p.D350A;	0.664173332551534	0.618
18	18619523	C	A	18	21039562	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon9:c.G961T:p.E321X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon9:c.G961T:p.E321X;	0.629881716904334	0.674
18	18619523	C	G	18	21039562	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.G961C:p.E321Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.G961C:p.E321Q;	0.445422886109588	0.606
18	18619523	C	T	18	21039562	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.G961A:p.E321K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.G961A:p.E321K;	0.188895442924917	0.42
18	18619524	C	A	18	21039563	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.G960T:p.R320S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.G960T:p.R320S;	0.990417400176843	0.724
18	18619524	C	G	18	21039563	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon9:c.G960C:p.R320S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.G960C:p.R320S;	0.836081718451841	0.566
18	18619524	C	T	18	21039563	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon9:c.G960A:p.R320R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon9:c.G960A:p.R320R;	0.00126668666265143	0.078
18	18619525	C	A	18	21039564	y	y	splicing	ROCK1(NM_005406:exon10:c.960-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.960-1G>T)	.	.	0.999985532734767	0.946
18	18619525	C	G	18	21039564	y	y	splicing	ROCK1(NM_005406:exon10:c.960-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.960-1G>C)	.	.	0.999985532734767	0.946
18	18619525	C	T	18	21039564	y	y	splicing	ROCK1(NM_005406:exon10:c.960-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.960-1G>A)	.	.	0.999985532734767	0.946
18	18619526	T	A	18	21039565	y	y	splicing	ROCK1(NM_005406:exon10:c.960-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.960-2A>T)	.	.	0.999988247793601	0.948
18	18619526	T	C	18	21039565	y	y	splicing	ROCK1(NM_005406:exon10:c.960-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.960-2A>G)	.	.	0.999988247793601	0.948
18	18619526	T	G	18	21039565	y	y	splicing	ROCK1(NM_005406:exon10:c.960-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon10:c.960-2A>C)	.	.	0.999988247793601	0.948
18	18619527	G	A	18	21039566	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.34261042027134E-4	0.012
18	18619527	G	C	18	21039566	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999880443519523	0.94
18	18619527	G	T	18	21039566	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0718977117120314	0.442
18	18619528	A	C	18	21039567	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00150387805632752	0.06
18	18619528	A	G	18	21039567	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.53911381297222E-4	0.006
18	18619528	A	T	18	21039567	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00144241466225527	0.022
18	18619529	A	C	18	21039568	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999956874880721	0.95
18	18619529	A	G	18	21039568	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00143882565497504	0.028
18	18619529	A	T	18	21039568	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.146003855118253	0.408
18	18619530	T	A	18	21039569	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.67123820185311E-5	0.026
18	18619530	T	C	18	21039569	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.41200781269807E-4	0.0
18	18619530	T	G	18	21039569	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.16401692457836E-5	0.002
18	18619531	A	C	18	21039570	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0361601237596159	0.208
18	18619531	A	G	18	21039570	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.60670225467701E-5	0.014
18	18619531	A	T	18	21039570	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0194686455167457	0.242
18	18619532	A	C	18	21039571	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998415162025699	0.954
18	18619532	A	G	18	21039571	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.17524472694806E-5	0.002
18	18619532	A	T	18	21039571	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00345740639836048	0.084
18	18619533	T	A	18	21039572	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.78383519176822E-5	0.024
18	18619533	T	C	18	21039572	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.03043263302274E-5	0.0
18	18619533	T	G	18	21039572	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.81704101827707E-5	0.002
18	18619534	G	A	18	21039573	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.30004714823986E-5	0.0
18	18619534	G	C	18	21039573	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.885495513088E-4	0.01
18	18619534	G	T	18	21039573	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.36164842233507E-4	0.032
18	18619535	A	C	18	21039574	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.726071553134238	0.424
18	18619535	A	G	18	21039574	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00638659355847778	0.1
18	18619535	A	T	18	21039574	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.658670756729187	0.522
18	18619536	C	A	18	21039575	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.58645906776164E-5	0.018
18	18619536	C	G	18	21039575	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.58645906776164E-5	0.0
18	18619536	C	T	18	21039575	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.64023052726643E-5	0.028
18	18622050	T	A	18	21042089	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.37112408906228E-5	0.002
18	18622050	T	C	18	21042089	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.42257032480281E-5	0.0
18	18622050	T	G	18	21042089	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.12786175346948E-5	0.0
18	18622051	T	A	18	21042090	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.47645313688014E-4	0.012
18	18622051	T	C	18	21042090	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.21879051375946E-4	0.012
18	18622051	T	G	18	21042090	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.73271105967118E-5	0.0
18	18622052	A	C	18	21042091	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00754219364703019	0.284
18	18622052	A	G	18	21042091	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.494522501830402	0.436
18	18622052	A	T	18	21042091	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0641234889197313	0.336
18	18622053	T	A	18	21042092	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.52521366286914E-4	0.072
18	18622053	T	C	18	21042092	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.17251858789319E-5	0.026
18	18622053	T	G	18	21042092	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.0458671971921E-4	0.038
18	18622054	T	A	18	21042093	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.990797083707478	0.734
18	18622054	T	C	18	21042093	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.975251227240371	0.71
18	18622054	T	G	18	21042093	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.985755294224455	0.778
18	18622055	T	A	18	21042094	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999919252534983	0.904
18	18622055	T	C	18	21042094	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.946148094831037	0.744
18	18622055	T	G	18	21042094	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995690844740632	0.866
18	18622056	A	C	18	21042095	y	y	splicing	ROCK1(NM_005406:exon9:c.959+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.959+2T>G)	.	.	0.999988247793601	0.932
18	18622056	A	G	18	21042095	y	y	splicing	ROCK1(NM_005406:exon9:c.959+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.959+2T>C)	.	.	0.99340600729494	0.722
18	18622056	A	T	18	21042095	y	y	splicing	ROCK1(NM_005406:exon9:c.959+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.959+2T>A)	.	.	0.999988247793601	0.932
18	18622057	C	A	18	21042096	y	y	splicing	ROCK1(NM_005406:exon9:c.959+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.959+1G>T)	.	.	0.999990361384395	0.938
18	18622057	C	G	18	21042096	y	y	splicing	ROCK1(NM_005406:exon9:c.959+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.959+1G>C)	.	.	0.999990361384395	0.938
18	18622057	C	T	18	21042096	y	y	splicing	ROCK1(NM_005406:exon9:c.959+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.959+1G>A)	.	.	0.999990361384395	0.938
18	18622058	C	A	18	21042097	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.G959T:p.R320M;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.G959T:p.R320M;	0.999980044932222	0.994
18	18622058	C	G	18	21042097	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.G959C:p.R320T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.G959C:p.R320T;	0.999998122414291	0.992
18	18622058	C	T	18	21042097	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.G959A:p.R320K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.G959A:p.R320K;	0.99998598238935	1.0
18	18622059	T	A	18	21042098	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.A958T:p.R320W;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.A958T:p.R320W;	0.996178361724887	0.756
18	18622059	T	C	18	21042098	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.A958G:p.R320G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.A958G:p.R320G;	0.963597220197592	0.678
18	18622059	T	G	18	21042098	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon8:c.A958C:p.R320R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.A958C:p.R320R;	0.510712534355589	0.588
18	18622060	G	A	18	21042099	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon8:c.C957T:p.D319D;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.C957T:p.D319D;	0.87003372535228	0.646
18	18622060	G	C	18	21042099	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.C957G:p.D319E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.C957G:p.D319E;	0.925740154256221	0.602
18	18622060	G	T	18	21042099	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.C957A:p.D319E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.C957A:p.D319E;	0.95714251774908	0.796
18	18622195	A	C	18	21042234	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon8:c.T822G:p.G274G;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.T822G:p.G274G;	0.0885868975958107	0.176
18	18622195	A	G	18	21042234	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon8:c.T822C:p.G274G;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.T822C:p.G274G;	0.081072024811399	0.224
18	18622195	A	T	18	21042234	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon8:c.T822A:p.G274G;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.T822A:p.G274G;	0.130159088978087	0.19
18	18622196	C	A	18	21042235	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.G821T:p.G274V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.G821T:p.G274V;	0.999910480657918	0.996
18	18622196	C	G	18	21042235	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.G821C:p.G274A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.G821C:p.G274A;	0.999834313925265	0.986
18	18622196	C	T	18	21042235	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon8:c.G821A:p.G274D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon8:c.G821A:p.G274D;	0.999188254209947	0.934
18	18622197	C	A	18	21042236	y	y	splicing	ROCK1(NM_005406:exon9:c.821-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.821-1G>T)	.	.	0.999989263107695	0.938
18	18622197	C	G	18	21042236	y	y	splicing	ROCK1(NM_005406:exon9:c.821-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.821-1G>C)	.	.	0.999989263107695	0.938
18	18622197	C	T	18	21042236	y	y	splicing	ROCK1(NM_005406:exon9:c.821-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.821-1G>A)	.	.	0.999989263107695	0.938
18	18622198	T	A	18	21042237	y	y	splicing	ROCK1(NM_005406:exon9:c.821-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.821-2A>T)	.	.	0.999988247793601	0.93
18	18622198	T	C	18	21042237	y	y	splicing	ROCK1(NM_005406:exon9:c.821-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.821-2A>G)	.	.	0.999988247793601	0.93
18	18622198	T	G	18	21042237	y	y	splicing	ROCK1(NM_005406:exon9:c.821-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon9:c.821-2A>C)	.	.	0.999988247793601	0.93
18	18622199	G	A	18	21042238	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.69527581580007E-4	0.012
18	18622199	G	C	18	21042238	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998464592475789	0.974
18	18622199	G	T	18	21042238	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.236213520888907	0.486
18	18622200	A	C	18	21042239	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00173485538131411	0.01
18	18622200	A	G	18	21042239	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.7201561054792E-4	0.012
18	18622200	A	T	18	21042239	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00190510589955507	0.008
18	18622201	A	C	18	21042240	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.815972974939102	0.388
18	18622201	A	G	18	21042240	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00613474965266914	0.102
18	18622201	A	T	18	21042240	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.729416384842129	0.37
18	18622202	A	C	18	21042241	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.618433143425513	0.492
18	18622202	A	G	18	21042241	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.71345834219015E-4	0.06
18	18622202	A	T	18	21042241	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.807298654739009	0.518
18	18622203	A	C	18	21042242	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.421180670794926	0.338
18	18622203	A	G	18	21042242	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.22346629283561E-4	0.034
18	18622203	A	T	18	21042242	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.540403054564413	0.362
18	18622204	A	C	18	21042243	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993875006399071	0.94
18	18622204	A	G	18	21042243	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.03123702586378E-5	0.0
18	18622204	A	T	18	21042243	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00133700380030728	0.04
18	18622205	T	A	18	21042244	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.40563330393828E-4	0.004
18	18622205	T	C	18	21042244	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997056388097802	0.932
18	18622205	T	G	18	21042244	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.22700917848908E-4	0.0
18	18622206	T	A	18	21042245	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.65106001865498E-4	0.004
18	18622206	T	C	18	21042245	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.57306116268573E-4	0.002
18	18622206	T	G	18	21042245	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.40492521992909E-4	0.0
18	18622207	G	A	18	21042246	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.06925452141656E-5	0.0
18	18622207	G	C	18	21042246	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.59170539202575E-4	0.012
18	18622207	G	T	18	21042246	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.28342713967526E-4	0.054
18	18622208	A	C	18	21042247	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999658184055136	0.948
18	18622208	A	G	18	21042247	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.07383856330626E-4	0.008
18	18622208	A	T	18	21042247	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.484824306410172	0.458
18	18622518	T	A	18	21042557	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.66788996267205E-5	0.0
18	18622518	T	C	18	21042557	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.01174165683835E-5	0.0
18	18622518	T	G	18	21042557	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.61871598183168E-5	0.0
18	18622519	T	A	18	21042558	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.98839251671704E-4	0.006
18	18622519	T	C	18	21042558	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.73271105967118E-5	0.0
18	18622519	T	G	18	21042558	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.73271105967118E-5	0.0
18	18622520	A	C	18	21042559	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.353719521539749	0.392
18	18622520	A	G	18	21042559	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.544411141519382	0.422
18	18622520	A	T	18	21042559	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.947454261397288	0.586
18	18622521	C	A	18	21042560	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993269590035526	0.888
18	18622521	C	G	18	21042560	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.991559361259111	0.874
18	18622521	C	T	18	21042560	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997191017572572	0.95
18	18622522	T	A	18	21042561	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.992401219399677	0.802
18	18622522	T	C	18	21042561	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99818990043216	0.812
18	18622522	T	G	18	21042561	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.902558345183586	0.612
18	18622523	C	A	18	21042562	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0810296395379138	0.278
18	18622523	C	G	18	21042562	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0890139670011872	0.246
18	18622523	C	T	18	21042562	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.63130813459793E-5	0.002
18	18622524	A	C	18	21042563	y	y	splicing	ROCK1(NM_005406:exon8:c.820+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.820+2T>G)	.	.	0.999989917668626	0.928
18	18622524	A	G	18	21042563	y	y	splicing	ROCK1(NM_005406:exon8:c.820+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.820+2T>C)	.	.	0.999939711763648	0.858
18	18622524	A	T	18	21042563	y	y	splicing	ROCK1(NM_005406:exon8:c.820+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.820+2T>A)	.	.	0.999989917668626	0.928
18	18622525	C	A	18	21042564	y	y	splicing	ROCK1(NM_005406:exon8:c.820+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.820+1G>T)	.	.	0.999981760802075	0.938
18	18622525	C	G	18	21042564	y	y	splicing	ROCK1(NM_005406:exon8:c.820+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.820+1G>C)	.	.	0.999981760802075	0.938
18	18622525	C	T	18	21042564	y	y	splicing	ROCK1(NM_005406:exon8:c.820+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.820+1G>A)	.	.	0.999981760802075	0.938
18	18622526	C	A	18	21042565	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.G820T:p.G274C;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.G820T:p.G274C;	0.999966146540853	0.996
18	18622526	C	G	18	21042565	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.G820C:p.G274R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.G820C:p.G274R;	0.999934757616826	0.948
18	18622526	C	T	18	21042565	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.G820A:p.G274S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.G820A:p.G274S;	0.999939225814968	0.994
18	18622527	T	A	18	21042566	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon7:c.A819T:p.V273V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.A819T:p.V273V;	0.125746762497771	0.496
18	18622527	T	C	18	21042566	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon7:c.A819G:p.V273V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.A819G:p.V273V;	0.422847870279321	0.328
18	18622527	T	G	18	21042566	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon7:c.A819C:p.V273V;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.A819C:p.V273V;	0.343270051250152	0.5
18	18622528	A	C	18	21042567	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.T818G:p.V273G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.T818G:p.V273G;	0.576284276684545	0.784
18	18622528	A	G	18	21042567	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.T818C:p.V273A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.T818C:p.V273A;	0.462097490466056	0.728
18	18622528	A	T	18	21042567	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.T818A:p.V273E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.T818A:p.V273E;	0.462097490466056	0.738
18	18622669	T	A	18	21042708	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.A677T:p.E226V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.A677T:p.E226V;	0.782500907188738	0.628
18	18622669	T	C	18	21042708	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.A677G:p.E226G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.A677G:p.E226G;	0.849828423611289	0.692
18	18622669	T	G	18	21042708	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.A677C:p.E226A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.A677C:p.E226A;	0.85954609953629	0.798
18	18622670	C	A	18	21042709	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon7:c.G676T:p.E226X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon7:c.G676T:p.E226X;	0.999942345002822	0.994
18	18622670	C	G	18	21042709	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.G676C:p.E226Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.G676C:p.E226Q;	0.999896915564533	0.978
18	18622670	C	T	18	21042709	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon7:c.G676A:p.E226K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon7:c.G676A:p.E226K;	0.99989368559374	0.968
18	18622671	C	A	18	21042710	y	y	splicing	ROCK1(NM_005406:exon8:c.676-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.676-1G>T)	.	.	0.999985532734767	0.948
18	18622671	C	G	18	21042710	y	y	splicing	ROCK1(NM_005406:exon8:c.676-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.676-1G>C)	.	.	0.999985532734767	0.948
18	18622671	C	T	18	21042710	y	y	splicing	ROCK1(NM_005406:exon8:c.676-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.676-1G>A)	.	.	0.999985532734767	0.948
18	18622672	T	A	18	21042711	y	y	splicing	ROCK1(NM_005406:exon8:c.676-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.676-2A>T)	.	.	0.999988247793601	0.948
18	18622672	T	C	18	21042711	y	y	splicing	ROCK1(NM_005406:exon8:c.676-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.676-2A>G)	.	.	0.999988247793601	0.948
18	18622672	T	G	18	21042711	y	y	splicing	ROCK1(NM_005406:exon8:c.676-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon8:c.676-2A>C)	.	.	0.999988247793601	0.948
18	18622673	A	C	18	21042712	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997889226858561	0.778
18	18622673	A	G	18	21042712	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.196107256773E-4	0.108
18	18622673	A	T	18	21042712	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.125874064323699	0.432
18	18622674	A	C	18	21042713	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.06378007460825E-4	0.03
18	18622674	A	G	18	21042713	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.56820230227076E-4	0.002
18	18622674	A	T	18	21042713	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.34257427568808E-4	0.01
18	18622675	A	C	18	21042714	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.992562406858049	0.834
18	18622675	A	G	18	21042714	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.16855052658626	0.252
18	18622675	A	T	18	21042714	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.991736290803332	0.812
18	18622676	A	C	18	21042715	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.414057927606209	0.574
18	18622676	A	G	18	21042715	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.43357171276333E-4	0.022
18	18622676	A	T	18	21042715	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0835986452459094	0.572
18	18622677	A	C	18	21042716	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00934037845065207	0.17
18	18622677	A	G	18	21042716	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.26655556145933E-4	0.004
18	18622677	A	T	18	21042716	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0122863221713141	0.172
18	18622678	G	A	18	21042717	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.30415030798652E-5	0.002
18	18622678	G	C	18	21042717	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.94500391040748E-4	0.068
18	18622678	G	T	18	21042717	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.39446931381514E-4	0.036
18	18622679	C	A	18	21042718	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.11417324038507E-6	0.022
18	18622679	C	G	18	21042718	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.20937239657568E-5	0.0
18	18622679	C	T	18	21042718	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.1717649657504E-4	0.05
18	18622680	G	A	18	21042719	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.92017314592258E-5	0.002
18	18622680	G	C	18	21042719	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.36547922974157E-4	0.052
18	18622680	G	T	18	21042719	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.981951872913704	0.866
18	18622681	C	A	18	21042720	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.273366160808E-5	0.046
18	18622681	C	G	18	21042720	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.52515013039301E-5	0.0
18	18622681	C	T	18	21042720	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.43394119541427E-5	0.016
18	18622682	G	A	18	21042721	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.88245963518985E-5	0.0
18	18622682	G	C	18	21042721	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.14169136999013E-4	0.072
18	18622682	G	T	18	21042721	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.884708705534102	0.38
18	18624055	T	A	18	21044094	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.36998015164446E-4	0.016
18	18624055	T	C	18	21044094	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.67754819250512E-4	0.022
18	18624055	T	G	18	21044094	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00100759848169736	0.078
18	18624056	A	C	18	21044095	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.24917807852169E-4	0.01
18	18624056	A	G	18	21044095	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.24917807852169E-4	0.032
18	18624056	A	T	18	21044095	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	7.94180997223893E-4	0.072
18	18624057	A	C	18	21044096	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.684334486468168	0.574
18	18624057	A	G	18	21044096	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.713059047929833	0.668
18	18624057	A	T	18	21044096	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.722168681577266	0.598
18	18624058	T	A	18	21044097	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00469138784448434	0.124
18	18624058	T	C	18	21044097	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.48123431434346E-4	0.076
18	18624058	T	G	18	21044097	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.133468810042507	0.204
18	18624059	T	A	18	21044098	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.888628877422121	0.62
18	18624059	T	C	18	21044098	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.678198959047608	0.592
18	18624059	T	G	18	21044098	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.857474156136077	0.666
18	18624060	A	C	18	21044099	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.96659784932719E-4	0.03
18	18624060	A	G	18	21044099	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0250584290153923	0.104
18	18624060	A	T	18	21044099	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.83780806591777E-4	0.048
18	18624061	A	C	18	21044100	y	y	splicing	ROCK1(NM_005406:exon7:c.675+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.675+2T>G)	.	.	0.999988624979899	0.944
18	18624061	A	G	18	21044100	y	y	splicing	ROCK1(NM_005406:exon7:c.675+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.675+2T>C)	.	.	0.991129914196296	0.64
18	18624061	A	T	18	21044100	y	y	splicing	ROCK1(NM_005406:exon7:c.675+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.675+2T>A)	.	.	0.999988624979899	0.944
18	18624062	C	A	18	21044101	y	y	splicing	ROCK1(NM_005406:exon7:c.675+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.675+1G>T)	.	.	0.999979422316293	0.944
18	18624062	C	G	18	21044101	y	y	splicing	ROCK1(NM_005406:exon7:c.675+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.675+1G>C)	.	.	0.999979422316293	0.944
18	18624062	C	T	18	21044101	y	y	splicing	ROCK1(NM_005406:exon7:c.675+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.675+1G>A)	.	.	0.999979422316293	0.944
18	18624063	C	A	18	21044102	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.G675T:p.K225N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.G675T:p.K225N;	0.999959461384362	1.0
18	18624063	C	G	18	21044102	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.G675C:p.K225N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.G675C:p.K225N;	0.999990490075635	1.0
18	18624063	C	T	18	21044102	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon6:c.G675A:p.K225K;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.G675A:p.K225K;	0.99997790917452	0.988
18	18624064	T	A	18	21044103	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.A674T:p.K225M;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.A674T:p.K225M;	0.999972136505049	0.998
18	18624064	T	C	18	21044103	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.A674G:p.K225R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.A674G:p.K225R;	0.999929758509577	1.0
18	18624064	T	G	18	21044103	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.A674C:p.K225T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.A674C:p.K225T;	0.999349602801428	0.98
18	18624065	T	A	18	21044104	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon6:c.A673T:p.K225X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon6:c.A673T:p.K225X;	0.999192690370175	0.876
18	18624065	T	C	18	21044104	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.A673G:p.K225E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.A673G:p.K225E;	0.11540993664768	0.176
18	18624065	T	G	18	21044104	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.A673C:p.K225Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.A673C:p.K225Q;	0.329235156434778	0.518
18	18624146	C	A	18	21044185	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.G592T:p.D198Y;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.G592T:p.D198Y;	0.971892984462801	0.89
18	18624146	C	G	18	21044185	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.G592C:p.D198H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.G592C:p.D198H;	0.973497728143304	0.89
18	18624146	C	T	18	21044185	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.G592A:p.D198N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.G592A:p.D198N;	0.981086913168011	0.938
18	18624147	T	A	18	21044186	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.A591T:p.R197S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.A591T:p.R197S;	0.0109745468244486	0.114
18	18624147	T	C	18	21044186	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon6:c.A591G:p.R197R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.A591G:p.R197R;	1.24138997541996E-4	0.0
18	18624147	T	G	18	21044186	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon6:c.A591C:p.R197S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon6:c.A591C:p.R197S;	0.00747884679129623	0.136
18	18624148	C	A	18	21044187	y	y	splicing	ROCK1(NM_005406:exon7:c.591-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.591-1G>T)	.	.	0.999981760802075	0.938
18	18624148	C	G	18	21044187	y	y	splicing	ROCK1(NM_005406:exon7:c.591-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.591-1G>C)	.	.	0.999981760802075	0.938
18	18624148	C	T	18	21044187	y	y	splicing	ROCK1(NM_005406:exon7:c.591-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.591-1G>A)	.	.	0.999981760802075	0.938
18	18624149	T	A	18	21044188	y	y	splicing	ROCK1(NM_005406:exon7:c.591-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.591-2A>T)	.	.	0.999989917668626	0.928
18	18624149	T	C	18	21044188	y	y	splicing	ROCK1(NM_005406:exon7:c.591-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.591-2A>G)	.	.	0.999989917668626	0.928
18	18624149	T	G	18	21044188	y	y	splicing	ROCK1(NM_005406:exon7:c.591-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon7:c.591-2A>C)	.	.	0.999989917668626	0.928
18	18624150	G	A	18	21044189	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.32149126088188E-4	0.028
18	18624150	G	C	18	21044189	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999655207097546	0.832
18	18624150	G	T	18	21044189	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.96614822674478	0.582
18	18624151	C	A	18	21044190	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.1214606431005E-5	0.0
18	18624151	C	G	18	21044190	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.38266568356734E-5	0.006
18	18624151	C	T	18	21044190	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.36182992051648E-5	0.0
18	18624152	A	C	18	21044191	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.82639855365081E-4	0.088
18	18624152	A	G	18	21044191	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.02186541229492E-4	0.0
18	18624152	A	T	18	21044191	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.820623806884725	0.71
18	18624153	G	A	18	21044192	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.73269577193318E-5	0.002
18	18624153	G	C	18	21044192	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00354949982283821	0.192
18	18624153	G	T	18	21044192	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00333943694217558	0.164
18	18624154	G	A	18	21044193	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.76313628865697E-5	0.0
18	18624154	G	C	18	21044193	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00243523129739671	0.05
18	18624154	G	T	18	21044193	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00199144497622227	0.082
18	18624155	A	C	18	21044194	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.45940956591968E-5	0.02
18	18624155	A	G	18	21044194	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.45783071629405E-6	0.002
18	18624155	A	T	18	21044194	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.27394119266875E-5	0.038
18	18624156	G	A	18	21044195	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.41392571794048E-4	0.0
18	18624156	G	C	18	21044195	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.7116586422838E-4	0.022
18	18624156	G	T	18	21044195	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0011978193694362	0.07
18	18624157	G	A	18	21044196	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.24357514375054E-5	0.01
18	18624157	G	C	18	21044196	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.86093942946063E-5	0.002
18	18624157	G	T	18	21044196	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.75419035673032E-5	0.004
18	18624158	G	A	18	21044197	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.21946853154343E-5	0.0
18	18624158	G	C	18	21044197	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.20497314995825E-4	0.002
18	18624158	G	T	18	21044197	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.86880657452272E-4	0.016
18	18624159	A	C	18	21044198	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.74047465909924E-5	0.094
18	18624159	A	G	18	21044198	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.90143671129421E-5	0.014
18	18624159	A	T	18	21044198	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.05564079020378E-4	0.102
18	18625245	A	C	18	21045284	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.59701189950265E-4	0.026
18	18625245	A	G	18	21045284	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.26216632573683E-4	0.0
18	18625245	A	T	18	21045284	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.38067348263569E-4	0.0
18	18625246	T	A	18	21045285	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0011634033498772	0.13
18	18625246	T	C	18	21045285	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.40277013227582E-4	0.06
18	18625246	T	G	18	21045285	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.04880898606558E-4	0.002
18	18625247	C	A	18	21045286	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.0198842381218E-4	0.01
18	18625247	C	G	18	21045286	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.61064756043816E-4	0.038
18	18625247	C	T	18	21045286	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.83011228119206E-4	0.014
18	18625248	T	A	18	21045287	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.28920285214513E-4	0.012
18	18625248	T	C	18	21045287	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.68440822752134E-5	0.038
18	18625248	T	G	18	21045287	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.87081464304461E-5	0.024
18	18625249	T	A	18	21045288	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.808349697845199	0.572
18	18625249	T	C	18	21045288	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.776999811783243	0.552
18	18625249	T	G	18	21045288	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.562083094794672	0.444
18	18625250	T	A	18	21045289	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998775090533712	0.92
18	18625250	T	C	18	21045289	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.85925537499511	0.794
18	18625250	T	G	18	21045289	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999730258426856	0.964
18	18625251	A	C	18	21045290	y	y	splicing	ROCK1(NM_005406:exon6:c.590+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.590+2T>G)	.	.	0.999988247793601	0.916
18	18625251	A	G	18	21045290	y	y	splicing	ROCK1(NM_005406:exon6:c.590+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.590+2T>C)	.	.	0.98918007292081	0.662
18	18625251	A	T	18	21045290	y	y	splicing	ROCK1(NM_005406:exon6:c.590+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.590+2T>A)	.	.	0.999988247793601	0.912
18	18625252	C	A	18	21045291	y	y	splicing	ROCK1(NM_005406:exon6:c.590+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.590+1G>T)	.	.	0.999990361384395	0.932
18	18625252	C	G	18	21045291	y	y	splicing	ROCK1(NM_005406:exon6:c.590+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.590+1G>C)	.	.	0.999990361384395	0.932
18	18625252	C	T	18	21045291	y	y	splicing	ROCK1(NM_005406:exon6:c.590+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.590+1G>A)	.	.	0.999990361384395	0.932
18	18625253	C	A	18	21045292	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.G590T:p.R197I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.G590T:p.R197I;	0.999987219666871	1.0
18	18625253	C	G	18	21045292	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.G590C:p.R197T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.G590C:p.R197T;	0.999998122414291	1.0
18	18625253	C	T	18	21045292	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.G590A:p.R197K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.G590A:p.R197K;	0.999993415158803	1.0
18	18625254	T	A	18	21045293	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon5:c.A589T:p.R197X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon5:c.A589T:p.R197X;	0.994117004160909	0.718
18	18625254	T	C	18	21045293	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.A589G:p.R197G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.A589G:p.R197G;	0.976640048441487	0.736
18	18625254	T	G	18	21045293	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon5:c.A589C:p.R197R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.A589C:p.R197R;	0.772962671612552	0.564
18	18625255	G	A	18	21045294	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon5:c.C588T:p.H196H;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.C588T:p.H196H;	0.286349171674036	0.398
18	18625255	G	C	18	21045294	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.C588G:p.H196Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.C588G:p.H196Q;	0.00157416833533461	0.15
18	18625255	G	T	18	21045294	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.C588A:p.H196Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.C588A:p.H196Q;	3.31049817400266E-4	0.088
18	18625427	A	C	18	21045466	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.T416G:p.L139R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.T416G:p.L139R;	0.858741025409254	0.504
18	18625427	A	G	18	21045466	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.T416C:p.L139P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.T416C:p.L139P;	0.778211195507338	0.506
18	18625427	A	T	18	21045466	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.T416A:p.L139H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.T416A:p.L139H;	0.901852904987123	0.5
18	18625428	G	A	18	21045467	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.C415T:p.L139F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.C415T:p.L139F;	0.995634746836814	0.928
18	18625428	G	C	18	21045467	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.C415G:p.L139V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.C415G:p.L139V;	0.976850599444172	0.68
18	18625428	G	T	18	21045467	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon5:c.C415A:p.L139I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon5:c.C415A:p.L139I;	0.975536637805457	0.78
18	18625429	C	A	18	21045468	y	y	splicing	ROCK1(NM_005406:exon6:c.415-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.415-1G>T)	.	.	0.999990361384395	0.938
18	18625429	C	G	18	21045468	y	y	splicing	ROCK1(NM_005406:exon6:c.415-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.415-1G>C)	.	.	0.999990361384395	0.938
18	18625429	C	T	18	21045468	y	y	splicing	ROCK1(NM_005406:exon6:c.415-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.415-1G>A)	.	.	0.999990361384395	0.938
18	18625430	T	A	18	21045469	y	y	splicing	ROCK1(NM_005406:exon6:c.415-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.415-2A>T)	.	.	0.999988247793601	0.932
18	18625430	T	C	18	21045469	y	y	splicing	ROCK1(NM_005406:exon6:c.415-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.415-2A>G)	.	.	0.999988247793601	0.932
18	18625430	T	G	18	21045469	y	y	splicing	ROCK1(NM_005406:exon6:c.415-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon6:c.415-2A>C)	.	.	0.999988247793601	0.932
18	18625431	A	C	18	21045470	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99371084864444	0.698
18	18625431	A	G	18	21045470	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.99151213468265E-5	0.012
18	18625431	A	T	18	21045470	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00459858822188954	0.274
18	18625432	T	A	18	21045471	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.07942015750033E-5	0.0
18	18625432	T	C	18	21045471	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.86915999267091E-5	0.016
18	18625432	T	G	18	21045471	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.83870146833629E-5	0.002
18	18625433	A	C	18	21045472	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.570869142736719	0.552
18	18625433	A	G	18	21045472	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.054413362093514	0.184
18	18625433	A	T	18	21045472	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.709543665723672	0.55
18	18625434	C	A	18	21045473	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.24194202143816E-5	0.004
18	18625434	C	G	18	21045473	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.22737137594393E-5	0.014
18	18625434	C	T	18	21045473	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.76745809417773E-5	0.002
18	18625435	A	C	18	21045474	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.203020902396122	0.376
18	18625435	A	G	18	21045474	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00180267010306098	0.104
18	18625435	A	T	18	21045474	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999941274540998	0.984
18	18625436	A	C	18	21045475	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00225055024105864	0.038
18	18625436	A	G	18	21045475	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.1565890866218E-5	0.002
18	18625436	A	T	18	21045475	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00159413729995847	0.032
18	18625437	A	C	18	21045476	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999873989188768	0.976
18	18625437	A	G	18	21045476	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.6733691341269E-4	0.008
18	18625437	A	T	18	21045476	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0182777168952144	0.248
18	18625438	T	A	18	21045477	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.84042634963156E-6	0.004
18	18625438	T	C	18	21045477	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.0050488145987E-5	0.02
18	18625438	T	G	18	21045477	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.5199180063328E-6	0.016
18	18625439	A	C	18	21045478	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.226809713127669	0.62
18	18625439	A	G	18	21045478	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00390024589371666	0.226
18	18625439	A	T	18	21045478	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.190861028049077	0.612
18	18625440	G	A	18	21045479	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.55908716824608E-5	0.0
18	18625440	G	C	18	21045479	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.58691708380088E-4	0.012
18	18625440	G	T	18	21045479	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.98084738897329E-5	0.028
18	18629045	A	C	18	21049084	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.5230933723647E-4	0.0
18	18629045	A	G	18	21049084	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.4772881808145E-4	0.002
18	18629045	A	T	18	21049084	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.65299748657515E-4	0.008
18	18629046	G	A	18	21049085	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.59620847629695E-4	0.0
18	18629046	G	C	18	21049085	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.59620847629695E-4	0.002
18	18629046	G	T	18	21049085	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.36982577165534E-4	0.0
18	18629047	T	A	18	21049086	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.0859367209359E-5	0.004
18	18629047	T	C	18	21049086	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.24424095305868E-5	0.006
18	18629047	T	G	18	21049086	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.45054154612632E-4	0.03
18	18629048	C	A	18	21049087	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.870362861618359	0.57
18	18629048	C	G	18	21049087	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.922032435726135	0.582
18	18629048	C	T	18	21049087	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.884788203633244	0.538
18	18629049	A	C	18	21049088	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.1161888418E-4	0.002
18	18629049	A	G	18	21049088	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00894634606064259	0.032
18	18629049	A	T	18	21049088	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.16587678803562E-4	0.038
18	18629050	T	A	18	21049089	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999874795287436	0.954
18	18629050	T	C	18	21049089	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999532064180646	0.936
18	18629050	T	G	18	21049089	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999588270467425	0.83
18	18629051	A	C	18	21049090	y	y	splicing	ROCK1(NM_005406:exon5:c.414+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.414+2T>G)	.	.	0.999988247793601	0.932
18	18629051	A	G	18	21049090	y	y	splicing	ROCK1(NM_005406:exon5:c.414+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.414+2T>C)	.	.	0.994669226766359	0.702
18	18629051	A	T	18	21049090	y	y	splicing	ROCK1(NM_005406:exon5:c.414+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.414+2T>A)	.	.	0.999988247793601	0.932
18	18629052	C	A	18	21049091	y	y	splicing	ROCK1(NM_005406:exon5:c.414+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.414+1G>T)	.	.	0.999990361384395	0.938
18	18629052	C	G	18	21049091	y	y	splicing	ROCK1(NM_005406:exon5:c.414+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.414+1G>C)	.	.	0.999990361384395	0.938
18	18629052	C	T	18	21049091	y	y	splicing	ROCK1(NM_005406:exon5:c.414+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.414+1G>A)	.	.	0.999990361384395	0.938
18	18629053	C	A	18	21049092	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.G414T:p.Q138H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.G414T:p.Q138H;	0.999987591864824	1.0
18	18629053	C	G	18	21049092	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.G414C:p.Q138H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.G414C:p.Q138H;	0.99999721398396	1.0
18	18629053	C	T	18	21049092	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon4:c.G414A:p.Q138Q;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.G414A:p.Q138Q;	0.999981497507982	0.988
18	18629054	T	A	18	21049093	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.A413T:p.Q138L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.A413T:p.Q138L;	0.999879273923213	0.996
18	18629054	T	C	18	21049093	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.A413G:p.Q138R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.A413G:p.Q138R;	0.99986550502545	0.996
18	18629054	T	G	18	21049093	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.A413C:p.Q138P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.A413C:p.Q138P;	0.999750920043077	0.984
18	18629055	G	A	18	21049094	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon4:c.C412T:p.Q138X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon4:c.C412T:p.Q138X;	0.99955037305165	0.954
18	18629055	G	C	18	21049094	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.C412G:p.Q138E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.C412G:p.Q138E;	0.980052778280224	0.668
18	18629055	G	T	18	21049094	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.C412A:p.Q138K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.C412A:p.Q138K;	0.952774475277172	0.81
18	18629189	A	C	18	21049228	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.T278G:p.V93G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.T278G:p.V93G;	0.938889257843937	0.488
18	18629189	A	G	18	21049228	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.T278C:p.V93A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.T278C:p.V93A;	0.875360734658649	0.542
18	18629189	A	T	18	21049228	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.T278A:p.V93E;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.T278A:p.V93E;	0.947629583565046	0.524
18	18629190	C	A	18	21049229	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.G277T:p.V93L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.G277T:p.V93L;	0.999958481722512	0.998
18	18629190	C	G	18	21049229	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.G277C:p.V93L;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.G277C:p.V93L;	0.999921233171529	0.982
18	18629190	C	T	18	21049229	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon4:c.G277A:p.V93I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon4:c.G277A:p.V93I;	0.999453619166124	0.952
18	18629191	C	A	18	21049230	y	y	splicing	ROCK1(NM_005406:exon5:c.277-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.277-1G>T)	.	.	0.999990361384395	0.948
18	18629191	C	G	18	21049230	y	y	splicing	ROCK1(NM_005406:exon5:c.277-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.277-1G>C)	.	.	0.999990361384395	0.948
18	18629191	C	T	18	21049230	y	y	splicing	ROCK1(NM_005406:exon5:c.277-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.277-1G>A)	.	.	0.999990361384395	0.948
18	18629192	T	A	18	21049231	y	y	splicing	ROCK1(NM_005406:exon5:c.277-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.277-2A>T)	.	.	0.999988247793601	0.94
18	18629192	T	C	18	21049231	y	y	splicing	ROCK1(NM_005406:exon5:c.277-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.277-2A>G)	.	.	0.999988247793601	0.94
18	18629192	T	G	18	21049231	y	y	splicing	ROCK1(NM_005406:exon5:c.277-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon5:c.277-2A>C)	.	.	0.999988247793601	0.94
18	18629193	T	A	18	21049232	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00221002000225715	0.074
18	18629193	T	C	18	21049232	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.879818207337871	0.61
18	18629193	T	G	18	21049232	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00188968454326683	0.072
18	18629194	T	A	18	21049233	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.031917604060019	0.218
18	18629194	T	C	18	21049233	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.100510140089912	0.188
18	18629194	T	G	18	21049233	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00214113003507708	0.066
18	18629195	A	C	18	21049234	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997702024001231	0.908
18	18629195	A	G	18	21049234	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.547142194499927	0.248
18	18629195	A	T	18	21049234	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.987597974911928	0.83
18	18629196	A	C	18	21049235	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.995607033388756	0.818
18	18629196	A	G	18	21049235	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00301821574877249	0.172
18	18629196	A	T	18	21049235	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993568643489841	0.814
18	18629197	A	C	18	21049236	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.640711370507383	0.478
18	18629197	A	G	18	21049236	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0014497742119811	0.046
18	18629197	A	T	18	21049236	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.857123608996522	0.5
18	18629198	A	C	18	21049237	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999848778317344	0.98
18	18629198	A	G	18	21049237	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0108602327209607	0.328
18	18629198	A	T	18	21049237	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.988186015566448	0.706
18	18629199	T	A	18	21049238	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.5247973381929E-4	0.078
18	18629199	T	C	18	21049238	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997677575423884	0.922
18	18629199	T	G	18	21049238	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00145174644053243	0.002
18	18629200	T	A	18	21049239	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.33819129387167E-5	0.0
18	18629200	T	C	18	21049239	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.92109089695418E-5	0.004
18	18629200	T	G	18	21049239	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.09538905524594E-5	0.012
18	18629201	G	A	18	21049240	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.018242004773996	0.112
18	18629201	G	C	18	21049240	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00673870227710523	0.096
18	18629201	G	T	18	21049240	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0200850483431202	0.094
18	18629202	A	C	18	21049241	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.869715111362966	0.558
18	18629202	A	G	18	21049241	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00120349499242146	0.118
18	18629202	A	T	18	21049241	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.968085769317844	0.608
18	18629733	T	A	18	21049772	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.57491786523094E-4	0.028
18	18629733	T	C	18	21049772	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00160014666506943	0.128
18	18629733	T	G	18	21049772	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.36207495648271E-4	0.01
18	18629734	A	C	18	21049773	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00333176681791063	0.004
18	18629734	A	G	18	21049773	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00296660316006809	0.004
18	18629734	A	T	18	21049773	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00296660316006809	0.016
18	18629735	A	C	18	21049774	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.998058578799494	0.898
18	18629735	A	G	18	21049774	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.932294914034312	0.754
18	18629735	A	T	18	21049774	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.992867801778777	0.772
18	18629736	C	A	18	21049775	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999965845723167	0.984
18	18629736	C	G	18	21049775	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999965845723167	0.996
18	18629736	C	T	18	21049775	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999963856395248	1.0
18	18629737	C	A	18	21049776	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	1.52670657168723E-4	0.056
18	18629737	C	G	18	21049776	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.67209041892805E-4	0.168
18	18629737	C	T	18	21049776	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.02177019399614E-4	0.046
18	18629738	T	A	18	21049777	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999503263881648	0.958
18	18629738	T	C	18	21049777	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996109777457255	0.934
18	18629738	T	G	18	21049777	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999884642720683	0.956
18	18629739	A	C	18	21049778	y	y	splicing	ROCK1(NM_005406:exon4:c.276+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.276+2T>G)	.	.	0.999988247793601	0.94
18	18629739	A	G	18	21049778	y	y	splicing	ROCK1(NM_005406:exon4:c.276+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.276+2T>C)	.	.	0.99340600729494	0.662
18	18629739	A	T	18	21049778	y	y	splicing	ROCK1(NM_005406:exon4:c.276+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.276+2T>A)	.	.	0.999988247793601	0.94
18	18629740	C	A	18	21049779	y	y	splicing	ROCK1(NM_005406:exon4:c.276+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.276+1G>T)	.	.	0.999985532734767	0.94
18	18629740	C	G	18	21049779	y	y	splicing	ROCK1(NM_005406:exon4:c.276+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.276+1G>C)	.	.	0.999985532734767	0.94
18	18629740	C	T	18	21049779	y	y	splicing	ROCK1(NM_005406:exon4:c.276+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.276+1G>A)	.	.	0.999985532734767	0.94
18	18629741	C	A	18	21049780	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.G276T:p.L92F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.G276T:p.L92F;	0.999987528490463	1.0
18	18629741	C	G	18	21049780	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.G276C:p.L92F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.G276C:p.L92F;	0.999991579223159	1.0
18	18629741	C	T	18	21049780	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon3:c.G276A:p.L92L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.G276A:p.L92L;	0.99998372765874	1.0
18	18629742	A	C	18	21049781	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.T275G:p.L92W;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.T275G:p.L92W;	0.959788555036608	0.9
18	18629742	A	G	18	21049781	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.T275C:p.L92S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.T275C:p.L92S;	0.952670409779059	0.872
18	18629742	A	T	18	21049781	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon3:c.T275A:p.L92X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon3:c.T275A:p.L92X;	0.711257053171591	0.612
18	18629743	A	C	18	21049782	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.T274G:p.L92V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.T274G:p.L92V;	0.63720854465544	0.626
18	18629743	A	G	18	21049782	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon3:c.T274C:p.L92L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.T274C:p.L92L;	0.00920550951754489	0.184
18	18629743	A	T	18	21049782	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.T274A:p.L92M;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.T274A:p.L92M;	0.597503400418682	0.658
18	18629840	A	C	18	21049879	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon3:c.T177G:p.Y59X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon3:c.T177G:p.Y59X;	0.830697966182367	0.666
18	18629840	A	G	18	21049879	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon3:c.T177C:p.Y59Y;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.T177C:p.Y59Y;	0.339777774070583	0.324
18	18629840	A	T	18	21049879	y	y	exonic	ROCK1	stopgain SNV	ROCK1:NM_005406:exon3:c.T177A:p.Y59X;	exonic	ENSG00000067900	stopgain SNV	ENSG00000067900:ENST00000399799:exon3:c.T177A:p.Y59X;	0.851705151572977	0.632
18	18629841	T	A	18	21049880	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.A176T:p.Y59F;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.A176T:p.Y59F;	0.843491236422578	0.658
18	18629841	T	C	18	21049880	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.A176G:p.Y59C;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.A176G:p.Y59C;	0.734607980954045	0.676
18	18629841	T	G	18	21049880	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon3:c.A176C:p.Y59S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon3:c.A176C:p.Y59S;	0.823530541050934	0.666
18	18629842	C	A	18	21049881	y	y	splicing	ROCK1(NM_005406:exon4:c.176-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.176-1G>T)	.	.	0.999990361384395	0.938
18	18629842	C	G	18	21049881	y	y	splicing	ROCK1(NM_005406:exon4:c.176-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.176-1G>C)	.	.	0.999990361384395	0.938
18	18629842	C	T	18	21049881	y	y	splicing	ROCK1(NM_005406:exon4:c.176-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.176-1G>A)	.	.	0.999990361384395	0.938
18	18629843	T	A	18	21049882	y	y	splicing	ROCK1(NM_005406:exon4:c.176-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.176-2A>T)	.	.	0.999988247793601	0.932
18	18629843	T	C	18	21049882	y	y	splicing	ROCK1(NM_005406:exon4:c.176-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.176-2A>G)	.	.	0.999988247793601	0.932
18	18629843	T	G	18	21049882	y	y	splicing	ROCK1(NM_005406:exon4:c.176-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon4:c.176-2A>C)	.	.	0.999988247793601	0.932
18	18629844	G	A	18	21049883	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.157657819067885	0.116
18	18629844	G	C	18	21049883	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999905954132255	0.962
18	18629844	G	T	18	21049883	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999757506887795	0.826
18	18629845	T	A	18	21049884	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.33882492369683E-5	0.018
18	18629845	T	C	18	21049884	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00109203145064964	0.03
18	18629845	T	G	18	21049884	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.79283793178152E-4	0.01
18	18629846	A	C	18	21049885	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.9975104192164	0.938
18	18629846	A	G	18	21049885	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00139586183790122	0.048
18	18629846	A	T	18	21049885	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00962906272890159	0.348
18	18629847	T	A	18	21049886	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.85745012343563E-4	0.094
18	18629847	T	C	18	21049886	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	2.84842345513038E-4	0.026
18	18629847	T	G	18	21049886	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	4.41777998264043E-4	0.004
18	18629848	G	A	18	21049887	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.19337161001169E-5	0.032
18	18629848	G	C	18	21049887	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00110441144650017	0.086
18	18629848	G	T	18	21049887	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00571715316593864	0.122
18	18629849	A	C	18	21049888	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00646142753184829	0.22
18	18629849	A	G	18	21049888	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.5248212428854E-5	0.0
18	18629849	A	T	18	21049888	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00335739808011068	0.118
18	18629850	A	C	18	21049889	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.167003922077255	0.228
18	18629850	A	G	18	21049889	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00961417480715008	0.13
18	18629850	A	T	18	21049889	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.107117056594585	0.248
18	18629851	A	C	18	21049890	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0365004253297303	0.208
18	18629851	A	G	18	21049890	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00200188922812421	0.048
18	18629851	A	T	18	21049890	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.107544883913755	0.288
18	18629852	A	C	18	21049891	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.988715831115668	0.658
18	18629852	A	G	18	21049891	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.902858111823242	0.498
18	18629852	A	T	18	21049891	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.986949782398773	0.722
18	18629853	G	A	18	21049892	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0255508446277483	0.264
18	18629853	G	C	18	21049892	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00822042961872676	0.098
18	18629853	G	T	18	21049892	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0398921400624154	0.152
18	18650485	T	A	18	21070524	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.85614230798373E-4	0.014
18	18650485	T	C	18	21070524	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00108632460492271	0.004
18	18650485	T	G	18	21070524	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00108632460492271	0.006
18	18650486	T	A	18	21070525	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0116601090052782	0.132
18	18650486	T	C	18	21070525	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0302646880962025	0.052
18	18650486	T	G	18	21070525	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0302646880962025	0.054
18	18650487	A	C	18	21070526	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.943866962136691	0.724
18	18650487	A	G	18	21070526	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.946682992376863	0.664
18	18650487	A	T	18	21070526	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.953003524468143	0.75
18	18650488	C	A	18	21070527	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999961875422221	0.962
18	18650488	C	G	18	21070527	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996762181912124	0.958
18	18650488	C	T	18	21070527	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999775127851887	0.97
18	18650489	T	A	18	21070528	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997454544871055	0.89
18	18650489	T	C	18	21070528	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.992379989356072	0.948
18	18650489	T	G	18	21070528	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.992699235569427	0.844
18	18650490	T	A	18	21070529	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999814367234875	0.956
18	18650490	T	C	18	21070529	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.648905380834072	0.44
18	18650490	T	G	18	21070529	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999733898751098	0.97
18	18650491	A	C	18	21070530	y	y	splicing	ROCK1(NM_005406:exon3:c.175+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.175+2T>G)	.	.	0.999989917668626	0.928
18	18650491	A	G	18	21070530	y	y	splicing	ROCK1(NM_005406:exon3:c.175+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.175+2T>C)	.	.	0.991007250132327	0.626
18	18650491	A	T	18	21070530	y	y	splicing	ROCK1(NM_005406:exon3:c.175+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.175+2T>A)	.	.	0.999989917668626	0.928
18	18650492	C	A	18	21070531	y	y	splicing	ROCK1(NM_005406:exon3:c.175+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.175+1G>T)	.	.	0.999986675681007	0.94
18	18650492	C	G	18	21070531	y	y	splicing	ROCK1(NM_005406:exon3:c.175+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.175+1G>C)	.	.	0.999986675681007	0.94
18	18650492	C	T	18	21070531	y	y	splicing	ROCK1(NM_005406:exon3:c.175+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.175+1G>A)	.	.	0.999986675681007	0.94
18	18650493	A	C	18	21070532	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.T175G:p.Y59D;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.T175G:p.Y59D;	0.214326889381728	0.386
18	18650493	A	G	18	21070532	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.T175C:p.Y59H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.T175C:p.Y59H;	0.90696546215713	0.84
18	18650493	A	T	18	21070532	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.T175A:p.Y59N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.T175A:p.Y59N;	0.661728458369096	0.774
18	18650494	T	A	18	21070533	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.A174T:p.R58S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.A174T:p.R58S;	0.988631789651834	0.886
18	18650494	T	C	18	21070533	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon2:c.A174G:p.R58R;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.A174G:p.R58R;	0.903608985927369	0.658
18	18650494	T	G	18	21070533	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.A174C:p.R58S;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.A174C:p.R58S;	0.984562332879711	0.914
18	18650495	C	A	18	21070534	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.G173T:p.R58I;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.G173T:p.R58I;	0.94100594747442	0.754
18	18650495	C	G	18	21070534	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.G173C:p.R58T;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.G173C:p.R58T;	0.933362194766307	0.684
18	18650495	C	T	18	21070534	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.G173A:p.R58K;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.G173A:p.R58K;	0.502363061393572	0.476
18	18650573	T	A	18	21070612	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.A95T:p.D32V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.A95T:p.D32V;	0.576265511763484	0.742
18	18650573	T	C	18	21070612	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.A95G:p.D32G;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.A95G:p.D32G;	0.624101882394676	0.552
18	18650573	T	G	18	21070612	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.A95C:p.D32A;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.A95C:p.D32A;	0.690673512625367	0.636
18	18650574	C	A	18	21070613	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.G94T:p.D32Y;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.G94T:p.D32Y;	0.999512885174827	0.968
18	18650574	C	G	18	21070613	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.G94C:p.D32H;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.G94C:p.D32H;	0.999453705757976	0.914
18	18650574	C	T	18	21070613	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon2:c.G94A:p.D32N;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon2:c.G94A:p.D32N;	0.997505954726115	0.902
18	18650575	C	A	18	21070614	y	y	splicing	ROCK1(NM_005406:exon3:c.94-1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.94-1G>T)	.	.	0.999986675681007	0.94
18	18650575	C	G	18	21070614	y	y	splicing	ROCK1(NM_005406:exon3:c.94-1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.94-1G>C)	.	.	0.999986675681007	0.94
18	18650575	C	T	18	21070614	y	y	splicing	ROCK1(NM_005406:exon3:c.94-1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.94-1G>A)	.	.	0.999986675681007	0.94
18	18650576	T	A	18	21070615	y	y	splicing	ROCK1(NM_005406:exon3:c.94-2A>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.94-2A>T)	.	.	0.999989917668626	0.928
18	18650576	T	C	18	21070615	y	y	splicing	ROCK1(NM_005406:exon3:c.94-2A>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.94-2A>G)	.	.	0.999989917668626	0.928
18	18650576	T	G	18	21070615	y	y	splicing	ROCK1(NM_005406:exon3:c.94-2A>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon3:c.94-2A>C)	.	.	0.999989917668626	0.928
18	18650577	A	C	18	21070616	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.989007584086117	0.796
18	18650577	A	G	18	21070616	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00314994835087534	0.022
18	18650577	A	T	18	21070616	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.125206091107724	0.332
18	18650578	A	C	18	21070617	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00781258489292808	0.07
18	18650578	A	G	18	21070617	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00281328318755539	0.016
18	18650578	A	T	18	21070617	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00885051008798915	0.036
18	18650579	A	C	18	21070618	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.369117975521588	0.462
18	18650579	A	G	18	21070618	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00209297353979944	0.032
18	18650579	A	T	18	21070618	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0531079971950172	0.302
18	18650580	G	A	18	21070619	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	5.49329209778961E-5	0.014
18	18650580	G	C	18	21070619	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	6.24784871892856E-4	0.148
18	18650580	G	T	18	21070619	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00106392430327759	0.14
18	18650581	A	C	18	21070620	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.418031803107616	0.336
18	18650581	A	G	18	21070620	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00172465536267272	0.042
18	18650581	A	T	18	21070620	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.843043976198479	0.482
18	18650582	A	C	18	21070621	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0426752925376258	0.198
18	18650582	A	G	18	21070621	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00189210579615782	0.052
18	18650582	A	T	18	21070621	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.250769992338908	0.238
18	18650583	A	C	18	21070622	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.99516606928499	0.764
18	18650583	A	G	18	21070622	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.0811493711487221	0.344
18	18650583	A	T	18	21070622	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.993843787155764	0.726
18	18650584	C	A	18	21070623	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.49984250538615E-6	0.102
18	18650584	C	G	18	21070623	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	8.80067652522419E-6	0.07
18	18650584	C	T	18	21070623	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.48573755914114E-5	0.088
18	18650585	A	C	18	21070624	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.891942644496834	0.594
18	18650585	A	G	18	21070624	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.538313030505124	0.246
18	18650585	A	T	18	21070624	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999820128450871	0.864
18	18650586	A	C	18	21070625	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.597873258538919	0.488
18	18650586	A	G	18	21070625	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.00581082378017041	0.182
18	18650586	A	T	18	21070625	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.865330386330289	0.508
18	18690771	C	A	18	21110810	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.57231369855065E-4	0.012
18	18690771	C	G	18	21110810	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.57231369855065E-4	0.006
18	18690771	C	T	18	21110810	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.24091433811098E-4	0.006
18	18690772	T	A	18	21110811	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.28632626268488E-4	0.152
18	18690772	T	C	18	21110811	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.20798721919146E-5	0.07
18	18690772	T	G	18	21110811	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	3.38949231430119E-5	0.066
18	18690773	A	C	18	21110812	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.636335858107689	0.508
18	18690773	A	G	18	21110812	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.533929196843087	0.684
18	18690773	A	T	18	21110812	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.923690896118288	0.8
18	18690774	C	A	18	21110813	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999871664687983	0.922
18	18690774	C	G	18	21110813	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999939816599079	0.93
18	18690774	C	T	18	21110813	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.999871664687983	0.938
18	18690775	T	A	18	21110814	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997855569019743	0.898
18	18690775	T	C	18	21110814	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.997862314243657	0.95
18	18690775	T	G	18	21110814	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.996267582721739	0.886
18	18690776	C	A	18	21110815	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.950863295137237	0.702
18	18690776	C	G	18	21110815	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	0.820380397898318	0.78
18	18690776	C	T	18	21110815	y	y	intronic	ROCK1	.	.	intronic	ENSG00000067900	.	.	9.46961402859099E-5	0.114
18	18690777	A	C	18	21110816	y	y	splicing	ROCK1(NM_005406:exon2:c.93+2T>G)	.	.	splicing	ENSG00000067900(ENST00000399799:exon2:c.93+2T>G)	.	.	0.999988247793601	0.928
18	18690777	A	G	18	21110816	y	y	splicing	ROCK1(NM_005406:exon2:c.93+2T>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon2:c.93+2T>C)	.	.	0.999929727175276	0.868
18	18690777	A	T	18	21110816	y	y	splicing	ROCK1(NM_005406:exon2:c.93+2T>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon2:c.93+2T>A)	.	.	0.999988247793601	0.928
18	18690778	C	A	18	21110817	y	y	splicing	ROCK1(NM_005406:exon2:c.93+1G>T)	.	.	splicing	ENSG00000067900(ENST00000399799:exon2:c.93+1G>T)	.	.	0.999985532734767	0.936
18	18690778	C	G	18	21110817	y	y	splicing	ROCK1(NM_005406:exon2:c.93+1G>C)	.	.	splicing	ENSG00000067900(ENST00000399799:exon2:c.93+1G>C)	.	.	0.999985532734767	0.936
18	18690778	C	T	18	21110817	y	y	splicing	ROCK1(NM_005406:exon2:c.93+1G>A)	.	.	splicing	ENSG00000067900(ENST00000399799:exon2:c.93+1G>A)	.	.	0.999985532734767	0.936
18	18690779	C	A	18	21110818	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon1:c.G93T:p.L31L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.G93T:p.L31L;	0.999628130967903	0.944
18	18690779	C	G	18	21110818	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon1:c.G93C:p.L31L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.G93C:p.L31L;	0.999936658062128	0.948
18	18690779	C	T	18	21110818	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon1:c.G93A:p.L31L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.G93A:p.L31L;	0.999680027451878	0.99
18	18690780	A	C	18	21110819	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon1:c.T92G:p.L31R;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.T92G:p.L31R;	0.948881100984561	0.928
18	18690780	A	G	18	21110819	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon1:c.T92C:p.L31P;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.T92C:p.L31P;	0.947197757265018	0.922
18	18690780	A	T	18	21110819	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon1:c.T92A:p.L31Q;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.T92A:p.L31Q;	0.635131709258316	0.624
18	18690781	G	A	18	21110820	y	y	exonic	ROCK1	synonymous SNV	ROCK1:NM_005406:exon1:c.C91T:p.L31L;	exonic	ENSG00000067900	synonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.C91T:p.L31L;	0.458567521092649	0.354
18	18690781	G	C	18	21110820	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon1:c.C91G:p.L31V;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.C91G:p.L31V;	0.0490816334826374	0.274
18	18690781	G	T	18	21110820	y	y	exonic	ROCK1	nonsynonymous SNV	ROCK1:NM_005406:exon1:c.C91A:p.L31M;	exonic	ENSG00000067900	nonsynonymous SNV	ENSG00000067900:ENST00000399799:exon1:c.C91A:p.L31M;	0.385551497518086	0.36
18	18822352	C	A	18	21242391	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	7.21913236819103E-4	0.028
18	18822352	C	G	18	21242391	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	6.16194481515665E-4	0.022
18	18822352	C	T	18	21242391	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.00517006126310596	0.246
18	18822353	A	C	18	21242392	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.75128757323695	0.766
18	18822353	A	G	18	21242392	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.957476942145499	0.882
18	18822353	A	T	18	21242392	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.986513485735947	0.942
18	18822354	G	A	18	21242393	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.998649236261493	0.962
18	18822354	G	C	18	21242393	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.999931973422633	0.94
18	18822354	G	T	18	21242393	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.998979440527047	0.994
18	18822355	G	A	18	21242394	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999986675681007	0.93
18	18822355	G	C	18	21242394	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999986675681007	0.93
18	18822355	G	T	18	21242394	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999986675681007	0.93
18	18822356	T	A	18	21242395	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999990155693597	0.912
18	18822356	T	C	18	21242395	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999928972209748	0.856
18	18822356	T	G	18	21242395	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999990155693597	0.924
18	18822357	G	A	18	21242396	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.14381531233796E-5	0.002
18	18822357	G	C	18	21242396	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0708070481002423	0.512
18	18822357	G	T	18	21242396	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.726179636389398	0.542
18	18822358	A	C	18	21242397	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.994012356048317	0.846
18	18822358	A	G	18	21242397	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.994578604917173	0.834
18	18822358	A	T	18	21242397	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99901274123043	0.85
18	18822359	G	A	18	21242398	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999010205649223	0.9
18	18822359	G	C	18	21242398	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997737639131736	0.874
18	18822359	G	T	18	21242398	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998766096272961	0.804
18	18822360	C	A	18	21242399	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0197365893764513	0.16
18	18822360	C	G	18	21242399	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.019538224623905	0.104
18	18822360	C	T	18	21242399	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0215271853801047	0.096
18	18822361	G	A	18	21242400	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0197700930678432	0.112
18	18822361	G	C	18	21242400	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00944512678516851	0.134
18	18822361	G	T	18	21242400	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00172670581689107	0.076
18	18822362	G	A	18	21242401	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.21433874309024E-4	0.0
18	18822362	G	C	18	21242401	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.21433874309024E-4	0.006
18	18822362	G	T	18	21242401	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.65230034870006E-4	0.002
18	18943819	A	C	18	21363858	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	7.83041080521012E-4	0.006
18	18943819	A	G	18	21363858	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	7.83041080521012E-4	0.006
18	18943819	A	T	18	21363858	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	7.70373002829532E-4	0.006
18	18943820	T	A	18	21363859	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.00661647016076468	0.026
18	18943820	T	C	18	21363859	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.00445622272127568	0.022
18	18943820	T	G	18	21363859	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.00763559792386277	0.022
18	18943821	G	A	18	21363860	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.0175862606840281	0.056
18	18943821	G	C	18	21363860	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.0119520884074995	0.056
18	18943821	G	T	18	21363860	n	y	intronic	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.0175862606840281	0.048
18	18943822	G	A	18	21363861	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.850322085406827	0.716
18	18943822	G	C	18	21363861	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.754854074308594	0.558
18	18943822	G	T	18	21363861	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.754854074308594	0.566
18	18943823	T	A	18	21363862	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.149512601100693	0.524
18	18943823	T	C	18	21363862	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.0944221853156123	0.41
18	18943823	T	G	18	21363862	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.0944221853156123	0.41
18	18943824	A	C	18	21363863	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00295790569149578	0.01
18	18943824	A	G	18	21363863	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00295790569149578	0.01
18	18943824	A	T	18	21363863	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00295790569149578	0.038
18	18943825	A	C	18	21363864	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00437100848571084	0.014
18	18943825	A	G	18	21363864	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00437100848571084	0.014
18	18943825	A	T	18	21363864	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00445622272127568	0.018
18	18943826	A	C	18	21363865	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.72247645960254E-4	0.008
18	18943826	A	G	18	21363865	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.72247645960254E-4	0.01
18	18943826	A	T	18	21363865	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.70373002829532E-4	0.006
18	18943827	C	A	18	21363866	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.40244684246139E-4	0.054
18	18943827	C	G	18	21363866	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.40244684246139E-4	0.054
18	18943827	C	T	18	21363866	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.40244684246139E-4	0.054
18	18943828	A	C	18	21363867	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.455930068921E-5	0.002
18	18943828	A	G	18	21363867	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.455930068921E-5	0.002
18	18943828	A	T	18	21363867	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.455930068921E-5	0.002
18	18943829	A	C	18	21363868	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.7586829694842E-5	0.0
18	18943829	A	G	18	21363868	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.7586829694842E-5	0.0
18	18943829	A	T	18	21363868	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.64905445396362E-5	0.0
18	18945976	A	C	18	21366015	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.34050817480164E-4	0.008
18	18945976	A	G	18	21366015	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.16971726706715E-4	0.012
18	18945976	A	T	18	21366015	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.62051551591357E-4	0.056
18	18945977	T	A	18	21366016	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999529062555924	0.884
18	18945977	T	C	18	21366016	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.720692197867391	0.288
18	18945977	T	G	18	21366016	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999475085174933	0.876
18	18945978	G	A	18	21366017	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.10717973781006E-4	0.024
18	18945978	G	C	18	21366017	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.83443397027182E-5	0.004
18	18945978	G	T	18	21366017	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.52139456398614E-4	0.002
18	18945979	T	A	18	21366018	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.963622578590887	0.626
18	18945979	T	C	18	21366018	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0584120248877465	0.322
18	18945979	T	G	18	21366018	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.921321431834486	0.632
18	18945980	T	A	18	21366019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.503080360298081	0.38
18	18945980	T	C	18	21366019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.002173839073732	0.034
18	18945980	T	G	18	21366019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0604846561227682	0.242
18	18945981	T	A	18	21366020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.315161301650263	0.446
18	18945981	T	C	18	21366020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.23716766347331E-4	0.008
18	18945981	T	G	18	21366020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.045087457510463	0.276
18	18945982	T	A	18	21366021	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.230750576502902	0.344
18	18945982	T	C	18	21366021	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.31776098585148E-4	0.002
18	18945982	T	G	18	21366021	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0776269936285496	0.332
18	18945983	T	A	18	21366022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.978710357215207	0.772
18	18945983	T	C	18	21366022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.63519330364101E-4	0.014
18	18945983	T	G	18	21366022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.185475794354047	0.38
18	18945984	G	A	18	21366023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.91579151599011E-5	0.008
18	18945984	G	C	18	21366023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.77184181473151E-5	0.002
18	18945984	G	T	18	21366023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.80924373634625E-5	0.002
18	18945985	C	A	18	21366024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.241271132632934	0.456
18	18945985	C	G	18	21366024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999724936809405	0.878
18	18945985	C	T	18	21366024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0137901569337997	0.276
18	18945986	A	C	18	21366025	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999966203349492	0.94
18	18945986	A	G	18	21366025	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999966203349492	0.94
18	18945986	A	T	18	21366025	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999966203349492	0.93
18	18945987	G	A	18	21366026	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999915710762489	0.938
18	18945987	G	C	18	21366026	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999915710762489	0.948
18	18945987	G	T	18	21366026	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999915710762489	0.938
18	18945988	G	A	18	21366027	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.284541607106388	0.478
18	18945988	G	C	18	21366027	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.395761549059763	0.518
18	18945988	G	T	18	21366027	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.80279746655027	0.542
18	18945989	T	A	18	21366028	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.00829504778437912	0.126
18	18945989	T	C	18	21366028	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.0129036907993662	0.142
18	18945989	T	G	18	21366028	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.0117153167439074	0.12
18	18946095	A	C	18	21366134	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.00372317183862173	0.02
18	18946095	A	G	18	21366134	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.0192472759648045	0.12
18	18946095	A	T	18	21366134	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.722255163806127	0.592
18	18946096	A	C	18	21366135	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.997967346226675	0.924
18	18946096	A	G	18	21366135	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.995236380745397	0.926
18	18946096	A	T	18	21366135	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.998804676505757	0.904
18	18946097	G	A	18	21366136	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.999990434442897	0.996
18	18946097	G	C	18	21366136	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.9999951658198	0.99
18	18946097	G	T	18	21366136	y	y	UTR5	GREB1L	.	.	UTR5	ENSG00000141449	.	.	0.999984883152989	0.992
18	18946098	G	A	18	21366137	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.99993314117114	0.942
18	18946098	G	C	18	21366137	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.99993314117114	0.952
18	18946098	G	T	18	21366137	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.99993314117114	0.952
18	18946099	T	A	18	21366138	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.99994568797423	0.958
18	18946099	T	C	18	21366138	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.967051399846647	0.682
18	18946099	T	G	18	21366138	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.99994568797423	0.962
18	18946100	A	C	18	21366139	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999867165124193	0.936
18	18946100	A	G	18	21366139	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999335781932779	0.914
18	18946100	A	T	18	21366139	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999867165124193	0.968
18	18946101	T	A	18	21366140	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.16552256574833E-4	0.058
18	18946101	T	C	18	21366140	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00883906080346605	0.144
18	18946101	T	G	18	21366140	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.96852386813275E-4	0.054
18	18946102	T	A	18	21366141	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.21772344874403E-4	0.008
18	18946102	T	C	18	21366141	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.02159405687641E-4	0.02
18	18946102	T	G	18	21366141	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.50528554127434E-4	0.062
18	18946103	G	A	18	21366142	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.26060977494175E-4	0.164
18	18946103	G	C	18	21366142	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00103346633015411	0.15
18	18946103	G	T	18	21366142	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.19421789214459E-4	0.098
18	18946104	T	A	18	21366143	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.93883157478337E-4	0.038
18	18946104	T	C	18	21366143	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.73712679084804E-4	0.02
18	18946104	T	G	18	21366143	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.81507516929957E-4	0.02
18	18946105	A	C	18	21366144	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.09421806349221E-6	0.0
18	18946105	A	G	18	21366144	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.54200164412274E-5	0.0
18	18946105	A	T	18	21366144	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.11776161574844E-5	0.006
18	18963459	G	A	18	21383498	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.997981746833134	0.93
18	18963459	G	C	18	21383498	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.02907168844764E-5	0.024
18	18963459	G	T	18	21383498	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.98262477887264E-5	0.026
18	18963460	G	A	18	21383499	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998236632988349	0.944
18	18963460	G	C	18	21383499	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.86207250139519E-4	0.088
18	18963460	G	T	18	21383499	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.49374912769338E-4	0.16
18	18963461	G	A	18	21383500	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.99945029689493	0.95
18	18963461	G	C	18	21383500	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00147504268250735	0.154
18	18963461	G	T	18	21383500	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00221535657226591	0.184
18	18963462	G	A	18	21383501	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.35752151496046E-4	0.042
18	18963462	G	C	18	21383501	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.04098040140937E-4	0.016
18	18963462	G	T	18	21383501	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.73440892073986E-4	0.088
18	18963463	A	C	18	21383502	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.00684534904205E-5	0.004
18	18963463	A	G	18	21383502	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.16819255442638E-5	0.046
18	18963463	A	T	18	21383502	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.00684534904205E-5	0.016
18	18963464	T	A	18	21383503	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999301446353459	0.978
18	18963464	T	C	18	21383503	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.71220754676597E-4	0.014
18	18963464	T	G	18	21383503	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999301446353459	0.978
18	18963465	G	A	18	21383504	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.995921306107415	0.936
18	18963465	G	C	18	21383504	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.19023504315051E-4	0.096
18	18963465	G	T	18	21383504	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.29716171854742E-4	0.054
18	18963466	G	A	18	21383505	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998615233016511	0.974
18	18963466	G	C	18	21383505	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.26531790668231E-4	0.028
18	18963466	G	T	18	21383505	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.57281417913368E-4	0.138
18	18963467	G	A	18	21383506	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.21858204399466E-4	0.038
18	18963467	G	C	18	21383506	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.72161915697621E-5	0.038
18	18963467	G	T	18	21383506	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	9.13958715638392E-5	0.086
18	18963468	T	A	18	21383507	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00840128998196199	0.324
18	18963468	T	C	18	21383507	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.13502161735723E-5	0.046
18	18963468	T	G	18	21383507	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.061522621343818	0.456
18	18963469	A	C	18	21383508	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.966193855176794	0.306
18	18963469	A	G	18	21383508	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.966193855176794	0.306
18	18963469	A	T	18	21383508	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.966193855176794	0.404
18	18963470	G	A	18	21383509	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999407413621651	0.666
18	18963470	G	C	18	21383509	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999586898529565	0.652
18	18963470	G	T	18	21383509	y	y	splicing	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.999225266570894	0.662
18	18963471	G	A	18	21383510	y	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.0125387763526627	0.366
18	18963471	G	C	18	21383510	y	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.301192048927931	0.584
18	18963471	G	T	18	21383510	y	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.844351835964474	0.67
18	18963472	T	A	18	21383511	y	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.0114230380385204	0.122
18	18963472	T	C	18	21383511	y	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.00724900115465209	0.124
18	18963472	T	G	18	21383511	y	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.00724900115465209	0.112
18	18963473	G	A	18	21383512	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	1.10908484338891E-4	0.012
18	18963473	G	C	18	21383512	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	7.16853710116694E-5	0.022
18	18963473	G	T	18	21383512	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	1.43928978876208E-4	0.034
18	18963474	T	A	18	21383513	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	4.28328655844912E-5	0.022
18	18963474	T	C	18	21383513	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	8.05402336594755E-5	0.04
18	18963474	T	G	18	21383513	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	5.96170084040399E-5	0.032
18	18963475	A	C	18	21383514	n	y	UTR5	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.247597183740736	0.56
18	18963475	A	G	18	21383514	n	y	UTR5	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.314421523910374	0.554
18	18963475	A	T	18	21383514	n	y	UTR5	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.347781993858009	0.396
18	18963476	G	A	18	21383515	n	y	UTR5	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.992708558819609	0.878
18	18963476	G	C	18	21383515	n	y	UTR5	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.992512663343499	0.932
18	18963476	G	T	18	21383515	n	y	UTR5	GREB1L	.	.	splicing	ENSG00000141449	.	.	0.987636667968028	0.808
18	18963477	A	C	18	21383516	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.0387067349681194	0.228
18	18963477	A	G	18	21383516	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.0387067349681194	0.242
18	18963477	A	T	18	21383516	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	0.18674468694372	0.444
18	18963478	T	A	18	21383517	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	2.20270187971897E-4	0.042
18	18963478	T	C	18	21383517	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	1.36998259212997E-4	0.11
18	18963478	T	G	18	21383517	n	y	UTR5	GREB1L	.	.	ncRNA_UTR5	ENSG00000141449	.	.	1.36998259212997E-4	0.1
18	18963634	C	A	18	21383673	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon3:c.C155A:p.A52E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.C155A:p.A52E;ENSG00000141449:ENST00000269218:exon3:c.C155A:p.A52E;ENSG00000141449:ENST00000431264:exon3:c.C155A:p.A52E;ENSG00000141449:ENST00000424526:exon3:c.C155A:p.A52E;ENSG00000141449:ENST00000400483:exon3:c.C155A:p.A52E;	0.0158251794752855	0.082
18	18963634	C	G	18	21383673	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon3:c.C155G:p.A52G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.C155G:p.A52G;ENSG00000141449:ENST00000269218:exon3:c.C155G:p.A52G;ENSG00000141449:ENST00000431264:exon3:c.C155G:p.A52G;ENSG00000141449:ENST00000424526:exon3:c.C155G:p.A52G;ENSG00000141449:ENST00000400483:exon3:c.C155G:p.A52G;	0.0300923757228515	0.086
18	18963634	C	T	18	21383673	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon3:c.C155T:p.A52V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.C155T:p.A52V;ENSG00000141449:ENST00000269218:exon3:c.C155T:p.A52V;ENSG00000141449:ENST00000431264:exon3:c.C155T:p.A52V;ENSG00000141449:ENST00000424526:exon3:c.C155T:p.A52V;ENSG00000141449:ENST00000400483:exon3:c.C155T:p.A52V;	0.322546300575568	0.31
18	18963635	A	C	18	21383674	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon3:c.A156C:p.A52A;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.A156C:p.A52A;ENSG00000141449:ENST00000269218:exon3:c.A156C:p.A52A;ENSG00000141449:ENST00000431264:exon3:c.A156C:p.A52A;ENSG00000141449:ENST00000424526:exon3:c.A156C:p.A52A;ENSG00000141449:ENST00000400483:exon3:c.A156C:p.A52A;	0.908145439716961	0.652
18	18963635	A	G	18	21383674	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon3:c.A156G:p.A52A;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.A156G:p.A52A;ENSG00000141449:ENST00000269218:exon3:c.A156G:p.A52A;ENSG00000141449:ENST00000431264:exon3:c.A156G:p.A52A;ENSG00000141449:ENST00000424526:exon3:c.A156G:p.A52A;ENSG00000141449:ENST00000400483:exon3:c.A156G:p.A52A;	0.898658786596061	0.668
18	18963635	A	T	18	21383674	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon3:c.A156T:p.A52A;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.A156T:p.A52A;ENSG00000141449:ENST00000269218:exon3:c.A156T:p.A52A;ENSG00000141449:ENST00000431264:exon3:c.A156T:p.A52A;ENSG00000141449:ENST00000424526:exon3:c.A156T:p.A52A;ENSG00000141449:ENST00000400483:exon3:c.A156T:p.A52A;	0.889818004215858	0.648
18	18963636	G	A	18	21383675	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon3:c.G157A:p.D53N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.G157A:p.D53N;ENSG00000141449:ENST00000269218:exon3:c.G157A:p.D53N;ENSG00000141449:ENST00000431264:exon3:c.G157A:p.D53N;ENSG00000141449:ENST00000424526:exon3:c.G157A:p.D53N;ENSG00000141449:ENST00000400483:exon3:c.G157A:p.D53N;	0.99776491894185	0.862
18	18963636	G	C	18	21383675	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon3:c.G157C:p.D53H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.G157C:p.D53H;ENSG00000141449:ENST00000269218:exon3:c.G157C:p.D53H;ENSG00000141449:ENST00000431264:exon3:c.G157C:p.D53H;ENSG00000141449:ENST00000424526:exon3:c.G157C:p.D53H;ENSG00000141449:ENST00000400483:exon3:c.G157C:p.D53H;	0.998829311420608	0.902
18	18963636	G	T	18	21383675	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon3:c.G157T:p.D53Y;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon3:c.G157T:p.D53Y;ENSG00000141449:ENST00000269218:exon3:c.G157T:p.D53Y;ENSG00000141449:ENST00000431264:exon3:c.G157T:p.D53Y;ENSG00000141449:ENST00000424526:exon3:c.G157T:p.D53Y;ENSG00000141449:ENST00000400483:exon3:c.G157T:p.D53Y;	0.998733008935411	0.836
18	18963637	G	A	18	21383676	y	y	splicing	GREB1L(NM_001142966:exon3:c.157+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon3:c.157+1G>A;ENST00000400483:exon3:c.157+1G>A;ENST00000424526:exon3:c.157+1G>A;ENST00000269218:exon3:c.157+1G>A;ENST00000580732:exon3:c.157+1G>A)	.	.	0.999986675681007	0.93
18	18963637	G	C	18	21383676	y	y	splicing	GREB1L(NM_001142966:exon3:c.157+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon3:c.157+1G>C;ENST00000400483:exon3:c.157+1G>C;ENST00000424526:exon3:c.157+1G>C;ENST00000269218:exon3:c.157+1G>C;ENST00000580732:exon3:c.157+1G>C)	.	.	0.999986675681007	0.93
18	18963637	G	T	18	21383676	y	y	splicing	GREB1L(NM_001142966:exon3:c.157+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon3:c.157+1G>T;ENST00000400483:exon3:c.157+1G>T;ENST00000424526:exon3:c.157+1G>T;ENST00000269218:exon3:c.157+1G>T;ENST00000580732:exon3:c.157+1G>T)	.	.	0.999986675681007	0.93
18	18963638	T	A	18	21383677	y	y	splicing	GREB1L(NM_001142966:exon3:c.157+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon3:c.157+2T>A;ENST00000400483:exon3:c.157+2T>A;ENST00000424526:exon3:c.157+2T>A;ENST00000269218:exon3:c.157+2T>A;ENST00000580732:exon3:c.157+2T>A)	.	.	0.999989917668626	0.928
18	18963638	T	C	18	21383677	y	y	splicing	GREB1L(NM_001142966:exon3:c.157+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon3:c.157+2T>C;ENST00000400483:exon3:c.157+2T>C;ENST00000424526:exon3:c.157+2T>C;ENST00000269218:exon3:c.157+2T>C;ENST00000580732:exon3:c.157+2T>C)	.	.	0.992022072753565	0.576
18	18963638	T	G	18	21383677	y	y	splicing	GREB1L(NM_001142966:exon3:c.157+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon3:c.157+2T>G;ENST00000400483:exon3:c.157+2T>G;ENST00000424526:exon3:c.157+2T>G;ENST00000269218:exon3:c.157+2T>G;ENST00000580732:exon3:c.157+2T>G)	.	.	0.999989917668626	0.928
18	18963639	A	C	18	21383678	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.988029517830643	0.778
18	18963639	A	G	18	21383678	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0786605331535997	0.176
18	18963639	A	T	18	21383678	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.983973668866397	0.826
18	18963640	A	C	18	21383679	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.758776929486142	0.572
18	18963640	A	G	18	21383679	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.666920711307702	0.578
18	18963640	A	T	18	21383679	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.850189255767582	0.594
18	18963641	G	A	18	21383680	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.894401736822335	0.454
18	18963641	G	C	18	21383680	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.379666283871444	0.402
18	18963641	G	T	18	21383680	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.491799326434221	0.416
18	18963642	T	A	18	21383681	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.64136717430323E-4	0.056
18	18963642	T	C	18	21383681	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00115501206003907	0.03
18	18963642	T	G	18	21383681	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.67043460621116E-5	0.024
18	18963643	T	A	18	21383682	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.30961459151587E-4	0.002
18	18963643	T	C	18	21383682	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.28298452008546E-4	0.002
18	18963643	T	G	18	21383682	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.28298452008546E-4	0.008
18	18963644	T	A	18	21383683	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.43451853687658E-4	0.006
18	18963644	T	C	18	21383683	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.89287879850736E-5	0.006
18	18963644	T	G	18	21383683	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.89287879850736E-5	0.008
18	18964155	T	A	18	21384194	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.016754091625709	0.39
18	18964155	T	C	18	21384194	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00410376532078533	0.116
18	18964155	T	G	18	21384194	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0534339135961908	0.378
18	18964156	T	A	18	21384195	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999972597077606	0.966
18	18964156	T	C	18	21384195	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00130822479777362	0.098
18	18964156	T	G	18	21384195	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.287218610005548	0.49
18	18964157	G	A	18	21384196	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00106410316130477	0.096
18	18964157	G	C	18	21384196	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.44685674399307E-4	0.052
18	18964157	G	T	18	21384196	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.44685674399307E-4	0.034
18	18964158	C	A	18	21384197	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.34729253829223E-4	0.038
18	18964158	C	G	18	21384197	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	9.63749847060536E-4	0.034
18	18964158	C	T	18	21384197	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.95048459408849E-5	0.0
18	18964159	T	A	18	21384198	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00691023961330273	0.228
18	18964159	T	C	18	21384198	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.66173100738251E-5	0.036
18	18964159	T	G	18	21384198	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0021990308887146	0.23
18	18964160	T	A	18	21384199	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.114500863471856	0.386
18	18964160	T	C	18	21384199	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.70621653753978E-4	0.018
18	18964160	T	G	18	21384199	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00670705089424148	0.096
18	18964161	A	C	18	21384200	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.98624329926357E-4	0.016
18	18964161	A	G	18	21384200	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.1430133377827E-4	0.006
18	18964161	A	T	18	21384200	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.67498984146034E-4	0.058
18	18964162	C	A	18	21384201	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.18620831239091E-4	0.1
18	18964162	C	G	18	21384201	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.990610940347226	0.866
18	18964162	C	T	18	21384201	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.16427556116979E-5	0.0
18	18964163	C	A	18	21384202	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.43880923298374E-5	0.002
18	18964163	C	G	18	21384202	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	9.87138749500051E-5	0.016
18	18964163	C	T	18	21384202	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.66656681143675E-5	0.006
18	18964164	C	A	18	21384203	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.98637314515344	0.78
18	18964164	C	G	18	21384203	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999929927603572	0.918
18	18964164	C	T	18	21384203	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0129083397449298	0.268
18	18964165	A	C	18	21384204	y	y	splicing	GREB1L(NM_001142966:exon4:c.158-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.158-2A>C;ENST00000400483:exon4:c.158-2A>C;ENST00000424526:exon4:c.158-2A>C;ENST00000269218:exon4:c.158-2A>C;ENST00000580732:exon4:c.158-2A>C)	.	.	0.999986741007567	0.94
18	18964165	A	G	18	21384204	y	y	splicing	GREB1L(NM_001142966:exon4:c.158-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.158-2A>G;ENST00000400483:exon4:c.158-2A>G;ENST00000424526:exon4:c.158-2A>G;ENST00000269218:exon4:c.158-2A>G;ENST00000580732:exon4:c.158-2A>G)	.	.	0.999986741007567	0.94
18	18964165	A	T	18	21384204	y	y	splicing	GREB1L(NM_001142966:exon4:c.158-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.158-2A>T;ENST00000400483:exon4:c.158-2A>T;ENST00000424526:exon4:c.158-2A>T;ENST00000269218:exon4:c.158-2A>T;ENST00000580732:exon4:c.158-2A>T)	.	.	0.999986741007567	0.94
18	18964166	G	A	18	21384205	y	y	splicing	GREB1L(NM_001142966:exon4:c.158-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.158-1G>A;ENST00000400483:exon4:c.158-1G>A;ENST00000424526:exon4:c.158-1G>A;ENST00000269218:exon4:c.158-1G>A;ENST00000580732:exon4:c.158-1G>A)	.	.	0.999989125585301	0.944
18	18964166	G	C	18	21384205	y	y	splicing	GREB1L(NM_001142966:exon4:c.158-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.158-1G>C;ENST00000400483:exon4:c.158-1G>C;ENST00000424526:exon4:c.158-1G>C;ENST00000269218:exon4:c.158-1G>C;ENST00000580732:exon4:c.158-1G>C)	.	.	0.999989125585301	0.944
18	18964166	G	T	18	21384205	y	y	splicing	GREB1L(NM_001142966:exon4:c.158-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.158-1G>T;ENST00000400483:exon4:c.158-1G>T;ENST00000424526:exon4:c.158-1G>T;ENST00000269218:exon4:c.158-1G>T;ENST00000580732:exon4:c.158-1G>T)	.	.	0.999989125585301	0.944
18	18964167	A	C	18	21384206	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.A158C:p.D53A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.A158C:p.D53A;ENSG00000141449:ENST00000269218:exon4:c.A158C:p.D53A;ENSG00000141449:ENST00000431264:exon4:c.A158C:p.D53A;ENSG00000141449:ENST00000424526:exon4:c.A158C:p.D53A;ENSG00000141449:ENST00000400483:exon4:c.A158C:p.D53A;	0.926888535494737	0.632
18	18964167	A	G	18	21384206	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.A158G:p.D53G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.A158G:p.D53G;ENSG00000141449:ENST00000269218:exon4:c.A158G:p.D53G;ENSG00000141449:ENST00000431264:exon4:c.A158G:p.D53G;ENSG00000141449:ENST00000424526:exon4:c.A158G:p.D53G;ENSG00000141449:ENST00000400483:exon4:c.A158G:p.D53G;	0.698501781543965	0.532
18	18964167	A	T	18	21384206	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.A158T:p.D53V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.A158T:p.D53V;ENSG00000141449:ENST00000269218:exon4:c.A158T:p.D53V;ENSG00000141449:ENST00000431264:exon4:c.A158T:p.D53V;ENSG00000141449:ENST00000424526:exon4:c.A158T:p.D53V;ENSG00000141449:ENST00000400483:exon4:c.A158T:p.D53V;	0.670427982216917	0.538
18	18964168	T	A	18	21384207	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.T159A:p.D53E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.T159A:p.D53E;ENSG00000141449:ENST00000269218:exon4:c.T159A:p.D53E;ENSG00000141449:ENST00000431264:exon4:c.T159A:p.D53E;ENSG00000141449:ENST00000424526:exon4:c.T159A:p.D53E;ENSG00000141449:ENST00000400483:exon4:c.T159A:p.D53E;	0.319671456377064	0.35
18	18964168	T	C	18	21384207	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon4:c.T159C:p.D53D;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.T159C:p.D53D;ENSG00000141449:ENST00000269218:exon4:c.T159C:p.D53D;ENSG00000141449:ENST00000431264:exon4:c.T159C:p.D53D;ENSG00000141449:ENST00000424526:exon4:c.T159C:p.D53D;ENSG00000141449:ENST00000400483:exon4:c.T159C:p.D53D;	0.036842008204178	0.268
18	18964168	T	G	18	21384207	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.T159G:p.D53E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.T159G:p.D53E;ENSG00000141449:ENST00000269218:exon4:c.T159G:p.D53E;ENSG00000141449:ENST00000431264:exon4:c.T159G:p.D53E;ENSG00000141449:ENST00000424526:exon4:c.T159G:p.D53E;ENSG00000141449:ENST00000400483:exon4:c.T159G:p.D53E;	0.0904054631641964	0.282
18	18964362	A	C	18	21384401	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.A353C:p.D118A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.A353C:p.D118A;ENSG00000141449:ENST00000269218:exon4:c.A353C:p.D118A;ENSG00000141449:ENST00000431264:exon4:c.A353C:p.D118A;ENSG00000141449:ENST00000424526:exon4:c.A353C:p.D118A;ENSG00000141449:ENST00000400483:exon4:c.A353C:p.D118A;	0.903157016034719	0.746
18	18964362	A	G	18	21384401	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.A353G:p.D118G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.A353G:p.D118G;ENSG00000141449:ENST00000269218:exon4:c.A353G:p.D118G;ENSG00000141449:ENST00000431264:exon4:c.A353G:p.D118G;ENSG00000141449:ENST00000424526:exon4:c.A353G:p.D118G;ENSG00000141449:ENST00000400483:exon4:c.A353G:p.D118G;	0.856728411373524	0.528
18	18964362	A	T	18	21384401	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.A353T:p.D118V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.A353T:p.D118V;ENSG00000141449:ENST00000269218:exon4:c.A353T:p.D118V;ENSG00000141449:ENST00000431264:exon4:c.A353T:p.D118V;ENSG00000141449:ENST00000424526:exon4:c.A353T:p.D118V;ENSG00000141449:ENST00000400483:exon4:c.A353T:p.D118V;	0.997631742785694	0.808
18	18964363	T	A	18	21384402	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.T354A:p.D118E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.T354A:p.D118E;ENSG00000141449:ENST00000269218:exon4:c.T354A:p.D118E;ENSG00000141449:ENST00000431264:exon4:c.T354A:p.D118E;ENSG00000141449:ENST00000424526:exon4:c.T354A:p.D118E;ENSG00000141449:ENST00000400483:exon4:c.T354A:p.D118E;	0.0025853409704241	0.478
18	18964363	T	C	18	21384402	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon4:c.T354C:p.D118D;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.T354C:p.D118D;ENSG00000141449:ENST00000269218:exon4:c.T354C:p.D118D;ENSG00000141449:ENST00000431264:exon4:c.T354C:p.D118D;ENSG00000141449:ENST00000424526:exon4:c.T354C:p.D118D;ENSG00000141449:ENST00000400483:exon4:c.T354C:p.D118D;	0.00178764199280171	0.17
18	18964363	T	G	18	21384402	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.T354G:p.D118E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.T354G:p.D118E;ENSG00000141449:ENST00000269218:exon4:c.T354G:p.D118E;ENSG00000141449:ENST00000431264:exon4:c.T354G:p.D118E;ENSG00000141449:ENST00000424526:exon4:c.T354G:p.D118E;ENSG00000141449:ENST00000400483:exon4:c.T354G:p.D118E;	6.34135779537534E-4	0.108
18	18964364	G	A	18	21384403	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.G355A:p.G119S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.G355A:p.G119S;ENSG00000141449:ENST00000269218:exon4:c.G355A:p.G119S;ENSG00000141449:ENST00000431264:exon4:c.G355A:p.G119S;ENSG00000141449:ENST00000424526:exon4:c.G355A:p.G119S;ENSG00000141449:ENST00000400483:exon4:c.G355A:p.G119S;	0.999993197809153	1.0
18	18964364	G	C	18	21384403	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.G355C:p.G119R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.G355C:p.G119R;ENSG00000141449:ENST00000269218:exon4:c.G355C:p.G119R;ENSG00000141449:ENST00000431264:exon4:c.G355C:p.G119R;ENSG00000141449:ENST00000424526:exon4:c.G355C:p.G119R;ENSG00000141449:ENST00000400483:exon4:c.G355C:p.G119R;	0.999992921863501	0.994
18	18964364	G	T	18	21384403	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon4:c.G355T:p.G119C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon4:c.G355T:p.G119C;ENSG00000141449:ENST00000269218:exon4:c.G355T:p.G119C;ENSG00000141449:ENST00000431264:exon4:c.G355T:p.G119C;ENSG00000141449:ENST00000424526:exon4:c.G355T:p.G119C;ENSG00000141449:ENST00000400483:exon4:c.G355T:p.G119C;	0.999981539279095	0.988
18	18964365	G	A	18	21384404	y	y	splicing	GREB1L(NM_001142966:exon4:c.355+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.355+1G>A;ENST00000400483:exon4:c.355+1G>A;ENST00000424526:exon4:c.355+1G>A;ENST00000269218:exon4:c.355+1G>A;ENST00000580732:exon4:c.355+1G>A)	.	.	0.999982627682474	0.906
18	18964365	G	C	18	21384404	y	y	splicing	GREB1L(NM_001142966:exon4:c.355+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.355+1G>C;ENST00000400483:exon4:c.355+1G>C;ENST00000424526:exon4:c.355+1G>C;ENST00000269218:exon4:c.355+1G>C;ENST00000580732:exon4:c.355+1G>C)	.	.	0.999982627682474	0.906
18	18964365	G	T	18	21384404	y	y	splicing	GREB1L(NM_001142966:exon4:c.355+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.355+1G>T;ENST00000400483:exon4:c.355+1G>T;ENST00000424526:exon4:c.355+1G>T;ENST00000269218:exon4:c.355+1G>T;ENST00000580732:exon4:c.355+1G>T)	.	.	0.999982627682474	0.904
18	18964366	T	A	18	21384405	y	y	splicing	GREB1L(NM_001142966:exon4:c.355+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.355+2T>A;ENST00000400483:exon4:c.355+2T>A;ENST00000424526:exon4:c.355+2T>A;ENST00000269218:exon4:c.355+2T>A;ENST00000580732:exon4:c.355+2T>A)	.	.	0.999979394981131	0.914
18	18964366	T	C	18	21384405	y	y	splicing	GREB1L(NM_001142966:exon4:c.355+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.355+2T>C;ENST00000400483:exon4:c.355+2T>C;ENST00000424526:exon4:c.355+2T>C;ENST00000269218:exon4:c.355+2T>C;ENST00000580732:exon4:c.355+2T>C)	.	.	0.999852175539256	0.874
18	18964366	T	G	18	21384405	y	y	splicing	GREB1L(NM_001142966:exon4:c.355+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon4:c.355+2T>G;ENST00000400483:exon4:c.355+2T>G;ENST00000424526:exon4:c.355+2T>G;ENST00000269218:exon4:c.355+2T>G;ENST00000580732:exon4:c.355+2T>G)	.	.	0.999979394981131	0.912
18	18964367	G	A	18	21384406	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.48848648373544E-4	0.046
18	18964367	G	C	18	21384406	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.789443485966417	0.582
18	18964367	G	T	18	21384406	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0344509226644552	0.406
18	18964368	G	A	18	21384407	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.99983321286948E-4	0.072
18	18964368	G	C	18	21384407	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00616335261777752	0.31
18	18964368	G	T	18	21384407	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0107149710534812	0.202
18	18964369	G	A	18	21384408	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999992284713694	0.972
18	18964369	G	C	18	21384408	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999992510024995	0.964
18	18964369	G	T	18	21384408	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999992510024995	0.922
18	18964370	T	A	18	21384409	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.927213954822119	0.584
18	18964370	T	C	18	21384409	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.61068939385868	0.522
18	18964370	T	G	18	21384409	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.943900394373907	0.68
18	18964371	T	A	18	21384410	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00125694333500633	0.038
18	18964371	T	C	18	21384410	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.03834924322409E-4	0.03
18	18964371	T	G	18	21384410	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.99926405604406E-4	0.026
18	18964372	T	A	18	21384411	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.19327403958109E-5	0.018
18	18964372	T	C	18	21384411	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.08346640542475E-4	0.02
18	18964372	T	G	18	21384411	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.17333457075992E-5	0.008
18	18975334	A	C	18	21395373	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.21321278707793E-5	0.0
18	18975334	A	G	18	21395373	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.995696711870612	0.972
18	18975334	A	T	18	21395373	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.18200176227732E-5	0.006
18	18975335	C	A	18	21395374	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00332952232028245	0.058
18	18975335	C	G	18	21395374	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999685381370721	0.974
18	18975335	C	T	18	21395374	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.03558495149736E-5	0.0
18	18975336	T	A	18	21395375	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999925046183456	0.98
18	18975336	T	C	18	21395375	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.54449306934128E-4	0.066
18	18975336	T	G	18	21395375	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0761057935592756	0.504
18	18975337	G	A	18	21395376	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998804224314277	0.97
18	18975337	G	C	18	21395376	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.98274846322319E-5	0.0
18	18975337	G	T	18	21395376	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.2199803815071E-4	0.034
18	18975338	G	A	18	21395377	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.19109864401677E-4	0.002
18	18975338	G	C	18	21395377	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.95792866086172E-5	0.002
18	18975338	G	T	18	21395377	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.3096521922547E-5	0.018
18	18975339	T	A	18	21395378	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00904547567698627	0.18
18	18975339	T	C	18	21395378	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.35304197836349E-5	0.032
18	18975339	T	G	18	21395378	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00550446168533412	0.22
18	18975340	T	A	18	21395379	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.487406343342393	0.524
18	18975340	T	C	18	21395379	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.38472446578353E-4	0.006
18	18975340	T	G	18	21395379	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.477901543840671	0.52
18	18975341	T	A	18	21395380	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.99168484364677	0.716
18	18975341	T	C	18	21395380	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0666826754623873	0.16
18	18975341	T	G	18	21395380	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.981558180162283	0.704
18	18975342	T	A	18	21395381	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00124624858045151	0.062
18	18975342	T	C	18	21395381	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.53419063932865E-5	0.006
18	18975342	T	G	18	21395381	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0023126677770125	0.034
18	18975343	T	A	18	21395382	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0852791039580221	0.402
18	18975343	T	C	18	21395382	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.00221368754327E-4	0.01
18	18975343	T	G	18	21395382	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.997766880694093	0.74
18	18975344	A	C	18	21395383	y	y	splicing	GREB1L(NM_001142966:exon5:c.356-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.356-2A>C;ENST00000400483:exon5:c.356-2A>C;ENST00000424526:exon5:c.356-2A>C;ENST00000269218:exon5:c.356-2A>C;ENST00000580732:exon5:c.356-2A>C)	.	.	0.999981808176352	0.924
18	18975344	A	G	18	21395383	y	y	splicing	GREB1L(NM_001142966:exon5:c.356-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.356-2A>G;ENST00000400483:exon5:c.356-2A>G;ENST00000424526:exon5:c.356-2A>G;ENST00000269218:exon5:c.356-2A>G;ENST00000580732:exon5:c.356-2A>G)	.	.	0.999981808176352	0.924
18	18975344	A	T	18	21395383	y	y	splicing	GREB1L(NM_001142966:exon5:c.356-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.356-2A>T;ENST00000400483:exon5:c.356-2A>T;ENST00000424526:exon5:c.356-2A>T;ENST00000269218:exon5:c.356-2A>T;ENST00000580732:exon5:c.356-2A>T)	.	.	0.999981808176352	0.924
18	18975345	G	A	18	21395384	y	y	splicing	GREB1L(NM_001142966:exon5:c.356-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.356-1G>A;ENST00000400483:exon5:c.356-1G>A;ENST00000424526:exon5:c.356-1G>A;ENST00000269218:exon5:c.356-1G>A;ENST00000580732:exon5:c.356-1G>A)	.	.	0.999986613959381	0.93
18	18975345	G	C	18	21395384	y	y	splicing	GREB1L(NM_001142966:exon5:c.356-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.356-1G>C;ENST00000400483:exon5:c.356-1G>C;ENST00000424526:exon5:c.356-1G>C;ENST00000269218:exon5:c.356-1G>C;ENST00000580732:exon5:c.356-1G>C)	.	.	0.999986613959381	0.93
18	18975345	G	T	18	21395384	y	y	splicing	GREB1L(NM_001142966:exon5:c.356-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.356-1G>T;ENST00000400483:exon5:c.356-1G>T;ENST00000424526:exon5:c.356-1G>T;ENST00000269218:exon5:c.356-1G>T;ENST00000580732:exon5:c.356-1G>T)	.	.	0.999986613959381	0.93
18	18975346	G	A	18	21395385	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.G356A:p.G119D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.G356A:p.G119D;ENSG00000141449:ENST00000269218:exon5:c.G356A:p.G119D;ENSG00000141449:ENST00000431264:exon5:c.G356A:p.G119D;ENSG00000141449:ENST00000424526:exon5:c.G356A:p.G119D;ENSG00000141449:ENST00000400483:exon5:c.G356A:p.G119D;	0.999706053510354	0.946
18	18975346	G	C	18	21395385	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.G356C:p.G119A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.G356C:p.G119A;ENSG00000141449:ENST00000269218:exon5:c.G356C:p.G119A;ENSG00000141449:ENST00000431264:exon5:c.G356C:p.G119A;ENSG00000141449:ENST00000424526:exon5:c.G356C:p.G119A;ENSG00000141449:ENST00000400483:exon5:c.G356C:p.G119A;	0.999849846881524	0.99
18	18975346	G	T	18	21395385	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.G356T:p.G119V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.G356T:p.G119V;ENSG00000141449:ENST00000269218:exon5:c.G356T:p.G119V;ENSG00000141449:ENST00000431264:exon5:c.G356T:p.G119V;ENSG00000141449:ENST00000424526:exon5:c.G356T:p.G119V;ENSG00000141449:ENST00000400483:exon5:c.G356T:p.G119V;	0.999868680240458	0.99
18	18975347	T	A	18	21395386	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon5:c.T357A:p.G119G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.T357A:p.G119G;ENSG00000141449:ENST00000269218:exon5:c.T357A:p.G119G;ENSG00000141449:ENST00000431264:exon5:c.T357A:p.G119G;ENSG00000141449:ENST00000424526:exon5:c.T357A:p.G119G;ENSG00000141449:ENST00000400483:exon5:c.T357A:p.G119G;	4.36206201304012E-4	0.17
18	18975347	T	C	18	21395386	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon5:c.T357C:p.G119G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.T357C:p.G119G;ENSG00000141449:ENST00000269218:exon5:c.T357C:p.G119G;ENSG00000141449:ENST00000431264:exon5:c.T357C:p.G119G;ENSG00000141449:ENST00000424526:exon5:c.T357C:p.G119G;ENSG00000141449:ENST00000400483:exon5:c.T357C:p.G119G;	0.0043484313394078	0.108
18	18975347	T	G	18	21395386	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon5:c.T357G:p.G119G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.T357G:p.G119G;ENSG00000141449:ENST00000269218:exon5:c.T357G:p.G119G;ENSG00000141449:ENST00000431264:exon5:c.T357G:p.G119G;ENSG00000141449:ENST00000424526:exon5:c.T357G:p.G119G;ENSG00000141449:ENST00000400483:exon5:c.T357G:p.G119G;	8.20616254259881E-4	0.178
18	18975520	T	A	18	21395559	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon5:c.T530A:p.L177X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon5:c.T530A:p.L177X;ENSG00000141449:ENST00000269218:exon5:c.T530A:p.L177X;ENSG00000141449:ENST00000431264:exon5:c.T530A:p.L177X;ENSG00000141449:ENST00000424526:exon5:c.T530A:p.L177X;ENSG00000141449:ENST00000400483:exon5:c.T530A:p.L177X;	0.632058170267329	0.774
18	18975520	T	C	18	21395559	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.T530C:p.L177S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.T530C:p.L177S;ENSG00000141449:ENST00000269218:exon5:c.T530C:p.L177S;ENSG00000141449:ENST00000431264:exon5:c.T530C:p.L177S;ENSG00000141449:ENST00000424526:exon5:c.T530C:p.L177S;ENSG00000141449:ENST00000400483:exon5:c.T530C:p.L177S;	0.486556209891439	0.712
18	18975520	T	G	18	21395559	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon5:c.T530G:p.L177X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon5:c.T530G:p.L177X;ENSG00000141449:ENST00000269218:exon5:c.T530G:p.L177X;ENSG00000141449:ENST00000431264:exon5:c.T530G:p.L177X;ENSG00000141449:ENST00000424526:exon5:c.T530G:p.L177X;ENSG00000141449:ENST00000400483:exon5:c.T530G:p.L177X;	0.731156152447399	0.808
18	18975521	A	C	18	21395560	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.A531C:p.L177F;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.A531C:p.L177F;ENSG00000141449:ENST00000269218:exon5:c.A531C:p.L177F;ENSG00000141449:ENST00000431264:exon5:c.A531C:p.L177F;ENSG00000141449:ENST00000424526:exon5:c.A531C:p.L177F;ENSG00000141449:ENST00000400483:exon5:c.A531C:p.L177F;	0.862659709477877	0.692
18	18975521	A	G	18	21395560	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon5:c.A531G:p.L177L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.A531G:p.L177L;ENSG00000141449:ENST00000269218:exon5:c.A531G:p.L177L;ENSG00000141449:ENST00000431264:exon5:c.A531G:p.L177L;ENSG00000141449:ENST00000424526:exon5:c.A531G:p.L177L;ENSG00000141449:ENST00000400483:exon5:c.A531G:p.L177L;	0.439625730751555	0.422
18	18975521	A	T	18	21395560	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.A531T:p.L177F;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.A531T:p.L177F;ENSG00000141449:ENST00000269218:exon5:c.A531T:p.L177F;ENSG00000141449:ENST00000431264:exon5:c.A531T:p.L177F;ENSG00000141449:ENST00000424526:exon5:c.A531T:p.L177F;ENSG00000141449:ENST00000400483:exon5:c.A531T:p.L177F;	0.684808710626943	0.628
18	18975522	G	A	18	21395561	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.G532A:p.G178R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.G532A:p.G178R;ENSG00000141449:ENST00000269218:exon5:c.G532A:p.G178R;ENSG00000141449:ENST00000431264:exon5:c.G532A:p.G178R;ENSG00000141449:ENST00000424526:exon5:c.G532A:p.G178R;ENSG00000141449:ENST00000400483:exon5:c.G532A:p.G178R;	0.999843529747008	0.952
18	18975522	G	C	18	21395561	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.G532C:p.G178R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.G532C:p.G178R;ENSG00000141449:ENST00000269218:exon5:c.G532C:p.G178R;ENSG00000141449:ENST00000431264:exon5:c.G532C:p.G178R;ENSG00000141449:ENST00000424526:exon5:c.G532C:p.G178R;ENSG00000141449:ENST00000400483:exon5:c.G532C:p.G178R;	0.999908232604048	0.966
18	18975522	G	T	18	21395561	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon5:c.G532T:p.G178W;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon5:c.G532T:p.G178W;ENSG00000141449:ENST00000269218:exon5:c.G532T:p.G178W;ENSG00000141449:ENST00000431264:exon5:c.G532T:p.G178W;ENSG00000141449:ENST00000424526:exon5:c.G532T:p.G178W;ENSG00000141449:ENST00000400483:exon5:c.G532T:p.G178W;	0.999885922140241	0.98
18	18975523	G	A	18	21395562	y	y	splicing	GREB1L(NM_001142966:exon5:c.532+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.532+1G>A;ENST00000400483:exon5:c.532+1G>A;ENST00000424526:exon5:c.532+1G>A;ENST00000269218:exon5:c.532+1G>A;ENST00000580732:exon5:c.532+1G>A)	.	.	0.999988247793601	0.936
18	18975523	G	C	18	21395562	y	y	splicing	GREB1L(NM_001142966:exon5:c.532+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.532+1G>C;ENST00000400483:exon5:c.532+1G>C;ENST00000424526:exon5:c.532+1G>C;ENST00000269218:exon5:c.532+1G>C;ENST00000580732:exon5:c.532+1G>C)	.	.	0.999988247793601	0.936
18	18975523	G	T	18	21395562	y	y	splicing	GREB1L(NM_001142966:exon5:c.532+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.532+1G>T;ENST00000400483:exon5:c.532+1G>T;ENST00000424526:exon5:c.532+1G>T;ENST00000269218:exon5:c.532+1G>T;ENST00000580732:exon5:c.532+1G>T)	.	.	0.999988247793601	0.936
18	18975524	T	A	18	21395563	y	y	splicing	GREB1L(NM_001142966:exon5:c.532+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.532+2T>A;ENST00000400483:exon5:c.532+2T>A;ENST00000424526:exon5:c.532+2T>A;ENST00000269218:exon5:c.532+2T>A;ENST00000580732:exon5:c.532+2T>A)	.	.	0.999993519952936	0.93
18	18975524	T	C	18	21395563	y	y	splicing	GREB1L(NM_001142966:exon5:c.532+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.532+2T>C;ENST00000400483:exon5:c.532+2T>C;ENST00000424526:exon5:c.532+2T>C;ENST00000269218:exon5:c.532+2T>C;ENST00000580732:exon5:c.532+2T>C)	.	.	0.999958563240378	0.856
18	18975524	T	G	18	21395563	y	y	splicing	GREB1L(NM_001142966:exon5:c.532+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon5:c.532+2T>G;ENST00000400483:exon5:c.532+2T>G;ENST00000424526:exon5:c.532+2T>G;ENST00000269218:exon5:c.532+2T>G;ENST00000580732:exon5:c.532+2T>G)	.	.	0.999993519952936	0.93
18	18975525	G	A	18	21395564	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.75399598638034E-5	0.002
18	18975525	G	C	18	21395564	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0712370503874266	0.24
18	18975525	G	T	18	21395564	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0835102979124541	0.302
18	18975526	A	C	18	21395565	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.939722153842873	0.634
18	18975526	A	G	18	21395565	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.99433214770414	0.684
18	18975526	A	T	18	21395565	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.98522025585883	0.602
18	18975527	G	A	18	21395566	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998228443412608	0.938
18	18975527	G	C	18	21395566	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.989657272418119	0.844
18	18975527	G	T	18	21395566	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.994646041928186	0.848
18	18975528	T	A	18	21395567	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.875186507565407	0.546
18	18975528	T	C	18	21395567	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.411307370949064	0.336
18	18975528	T	G	18	21395567	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.204453309362651	0.336
18	18975529	G	A	18	21395568	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.09579309754158E-4	0.01
18	18975529	G	C	18	21395568	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.81622095912844E-5	0.022
18	18975529	G	T	18	21395568	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.10556476333779E-4	0.01
18	18975530	T	A	18	21395569	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.02827437391913E-4	0.004
18	18975530	T	C	18	21395569	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.4486684889575E-5	0.006
18	18975530	T	G	18	21395569	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.23570309158458E-4	0.01
18	18981099	T	A	18	21401138	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.938506334321602	0.564
18	18981099	T	C	18	21401138	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.10497063188405E-5	0.058
18	18981099	T	G	18	21401138	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.808663674812362	0.46
18	18981100	C	A	18	21401139	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0100481054360969	0.378
18	18981100	C	G	18	21401139	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00197295248087986	0.232
18	18981100	C	T	18	21401139	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	9.07288866794528E-4	0.324
18	18981101	C	A	18	21401140	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.41058572148957E-4	0.18
18	18981101	C	G	18	21401140	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.67875683409465E-4	0.168
18	18981101	C	T	18	21401140	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.35437314482022E-4	0.24
18	18981102	T	A	18	21401141	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999978183962606	0.982
18	18981102	T	C	18	21401141	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00228226166299601	0.064
18	18981102	T	G	18	21401141	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.88655381832109	0.664
18	18981103	G	A	18	21401142	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.44200905753647E-5	0.052
18	18981103	G	C	18	21401142	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.10190989459251E-4	0.004
18	18981103	G	T	18	21401142	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.0653718306515E-5	0.0
18	18981104	A	C	18	21401143	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.42898879257956E-4	0.036
18	18981104	A	G	18	21401143	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.02638305472595E-4	0.002
18	18981104	A	T	18	21401143	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.2626274375422E-4	0.024
18	18981105	C	A	18	21401144	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00822196968779581	0.274
18	18981105	C	G	18	21401144	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998719000680412	0.96
18	18981105	C	T	18	21401144	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.51520675948619E-5	0.016
18	18981106	T	A	18	21401145	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999057422623974	0.942
18	18981106	T	C	18	21401145	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.105479263522645	0.264
18	18981106	T	G	18	21401145	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999097633550272	0.914
18	18981107	T	A	18	21401146	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.14991597389604E-4	0.044
18	18981107	T	C	18	21401146	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.34279949001639E-4	0.04
18	18981107	T	G	18	21401146	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0028129433951285	0.092
18	18981108	C	A	18	21401147	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.983828886458185	0.74
18	18981108	C	G	18	21401147	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999849483783824	0.976
18	18981108	C	T	18	21401147	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00544715203106971	0.076
18	18981109	A	C	18	21401148	y	y	splicing	GREB1L(NM_001142966:exon6:c.533-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.533-2A>C;ENST00000400483:exon6:c.533-2A>C;ENST00000424526:exon6:c.533-2A>C;ENST00000269218:exon6:c.533-2A>C;ENST00000580732:exon6:c.533-2A>C)	.	.	0.999988247793601	0.942
18	18981109	A	G	18	21401148	y	y	splicing	GREB1L(NM_001142966:exon6:c.533-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.533-2A>G;ENST00000400483:exon6:c.533-2A>G;ENST00000424526:exon6:c.533-2A>G;ENST00000269218:exon6:c.533-2A>G;ENST00000580732:exon6:c.533-2A>G)	.	.	0.999988247793601	0.942
18	18981109	A	T	18	21401148	y	y	splicing	GREB1L(NM_001142966:exon6:c.533-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.533-2A>T;ENST00000400483:exon6:c.533-2A>T;ENST00000424526:exon6:c.533-2A>T;ENST00000269218:exon6:c.533-2A>T;ENST00000580732:exon6:c.533-2A>T)	.	.	0.999988247793601	0.942
18	18981110	G	A	18	21401149	y	y	splicing	GREB1L(NM_001142966:exon6:c.533-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.533-1G>A;ENST00000400483:exon6:c.533-1G>A;ENST00000424526:exon6:c.533-1G>A;ENST00000269218:exon6:c.533-1G>A;ENST00000580732:exon6:c.533-1G>A)	.	.	0.999990361384395	0.942
18	18981110	G	C	18	21401149	y	y	splicing	GREB1L(NM_001142966:exon6:c.533-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.533-1G>C;ENST00000400483:exon6:c.533-1G>C;ENST00000424526:exon6:c.533-1G>C;ENST00000269218:exon6:c.533-1G>C;ENST00000580732:exon6:c.533-1G>C)	.	.	0.999990361384395	0.942
18	18981110	G	T	18	21401149	y	y	splicing	GREB1L(NM_001142966:exon6:c.533-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.533-1G>T;ENST00000400483:exon6:c.533-1G>T;ENST00000424526:exon6:c.533-1G>T;ENST00000269218:exon6:c.533-1G>T;ENST00000580732:exon6:c.533-1G>T)	.	.	0.999990361384395	0.942
18	18981111	G	A	18	21401150	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.G533A:p.G178E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.G533A:p.G178E;ENSG00000141449:ENST00000269218:exon6:c.G533A:p.G178E;ENSG00000141449:ENST00000431264:exon6:c.G533A:p.G178E;ENSG00000141449:ENST00000424526:exon6:c.G533A:p.G178E;ENSG00000141449:ENST00000400483:exon6:c.G533A:p.G178E;	0.946672422307704	0.622
18	18981111	G	C	18	21401150	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.G533C:p.G178A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.G533C:p.G178A;ENSG00000141449:ENST00000269218:exon6:c.G533C:p.G178A;ENSG00000141449:ENST00000431264:exon6:c.G533C:p.G178A;ENSG00000141449:ENST00000424526:exon6:c.G533C:p.G178A;ENSG00000141449:ENST00000400483:exon6:c.G533C:p.G178A;	0.997583115882884	0.912
18	18981111	G	T	18	21401150	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.G533T:p.G178V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.G533T:p.G178V;ENSG00000141449:ENST00000269218:exon6:c.G533T:p.G178V;ENSG00000141449:ENST00000431264:exon6:c.G533T:p.G178V;ENSG00000141449:ENST00000424526:exon6:c.G533T:p.G178V;ENSG00000141449:ENST00000400483:exon6:c.G533T:p.G178V;	0.998953552346949	0.938
18	18981112	G	A	18	21401151	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon6:c.G534A:p.G178G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.G534A:p.G178G;ENSG00000141449:ENST00000269218:exon6:c.G534A:p.G178G;ENSG00000141449:ENST00000431264:exon6:c.G534A:p.G178G;ENSG00000141449:ENST00000424526:exon6:c.G534A:p.G178G;ENSG00000141449:ENST00000400483:exon6:c.G534A:p.G178G;	0.080172101563643	0.27
18	18981112	G	C	18	21401151	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon6:c.G534C:p.G178G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.G534C:p.G178G;ENSG00000141449:ENST00000269218:exon6:c.G534C:p.G178G;ENSG00000141449:ENST00000431264:exon6:c.G534C:p.G178G;ENSG00000141449:ENST00000424526:exon6:c.G534C:p.G178G;ENSG00000141449:ENST00000400483:exon6:c.G534C:p.G178G;	0.0305892003035167	0.23
18	18981112	G	T	18	21401151	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon6:c.G534T:p.G178G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.G534T:p.G178G;ENSG00000141449:ENST00000269218:exon6:c.G534T:p.G178G;ENSG00000141449:ENST00000431264:exon6:c.G534T:p.G178G;ENSG00000141449:ENST00000424526:exon6:c.G534T:p.G178G;ENSG00000141449:ENST00000400483:exon6:c.G534T:p.G178G;	0.0220532977046069	0.162
18	18981285	A	C	18	21401324	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.A707C:p.K236T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.A707C:p.K236T;ENSG00000141449:ENST00000269218:exon6:c.A707C:p.K236T;ENSG00000141449:ENST00000431264:exon6:c.A707C:p.K236T;ENSG00000141449:ENST00000424526:exon6:c.A707C:p.K236T;ENSG00000141449:ENST00000400483:exon6:c.A707C:p.K236T;	0.821096907099934	0.62
18	18981285	A	G	18	21401324	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.A707G:p.K236R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.A707G:p.K236R;ENSG00000141449:ENST00000269218:exon6:c.A707G:p.K236R;ENSG00000141449:ENST00000431264:exon6:c.A707G:p.K236R;ENSG00000141449:ENST00000424526:exon6:c.A707G:p.K236R;ENSG00000141449:ENST00000400483:exon6:c.A707G:p.K236R;	0.905154226364583	0.544
18	18981285	A	T	18	21401324	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.A707T:p.K236I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.A707T:p.K236I;ENSG00000141449:ENST00000269218:exon6:c.A707T:p.K236I;ENSG00000141449:ENST00000431264:exon6:c.A707T:p.K236I;ENSG00000141449:ENST00000424526:exon6:c.A707T:p.K236I;ENSG00000141449:ENST00000400483:exon6:c.A707T:p.K236I;	0.999606017735841	0.888
18	18981286	A	C	18	21401325	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.A708C:p.K236N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.A708C:p.K236N;ENSG00000141449:ENST00000269218:exon6:c.A708C:p.K236N;ENSG00000141449:ENST00000431264:exon6:c.A708C:p.K236N;ENSG00000141449:ENST00000424526:exon6:c.A708C:p.K236N;ENSG00000141449:ENST00000400483:exon6:c.A708C:p.K236N;	0.999978320401495	0.982
18	18981286	A	G	18	21401325	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon6:c.A708G:p.K236K;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.A708G:p.K236K;ENSG00000141449:ENST00000269218:exon6:c.A708G:p.K236K;ENSG00000141449:ENST00000431264:exon6:c.A708G:p.K236K;ENSG00000141449:ENST00000424526:exon6:c.A708G:p.K236K;ENSG00000141449:ENST00000400483:exon6:c.A708G:p.K236K;	0.999864094952462	1.0
18	18981286	A	T	18	21401325	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.A708T:p.K236N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.A708T:p.K236N;ENSG00000141449:ENST00000269218:exon6:c.A708T:p.K236N;ENSG00000141449:ENST00000431264:exon6:c.A708T:p.K236N;ENSG00000141449:ENST00000424526:exon6:c.A708T:p.K236N;ENSG00000141449:ENST00000400483:exon6:c.A708T:p.K236N;	0.999981652586064	1.0
18	18981287	G	A	18	21401326	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.G709A:p.E237K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.G709A:p.E237K;ENSG00000141449:ENST00000269218:exon6:c.G709A:p.E237K;ENSG00000141449:ENST00000431264:exon6:c.G709A:p.E237K;ENSG00000141449:ENST00000424526:exon6:c.G709A:p.E237K;ENSG00000141449:ENST00000400483:exon6:c.G709A:p.E237K;	0.999994835479113	1.0
18	18981287	G	C	18	21401326	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon6:c.G709C:p.E237Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon6:c.G709C:p.E237Q;ENSG00000141449:ENST00000269218:exon6:c.G709C:p.E237Q;ENSG00000141449:ENST00000431264:exon6:c.G709C:p.E237Q;ENSG00000141449:ENST00000424526:exon6:c.G709C:p.E237Q;ENSG00000141449:ENST00000400483:exon6:c.G709C:p.E237Q;	0.999997648335462	1.0
18	18981287	G	T	18	21401326	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon6:c.G709T:p.E237X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon6:c.G709T:p.E237X;ENSG00000141449:ENST00000269218:exon6:c.G709T:p.E237X;ENSG00000141449:ENST00000431264:exon6:c.G709T:p.E237X;ENSG00000141449:ENST00000424526:exon6:c.G709T:p.E237X;ENSG00000141449:ENST00000400483:exon6:c.G709T:p.E237X;	0.999995553603527	0.902
18	18981288	G	A	18	21401327	y	y	splicing	GREB1L(NM_001142966:exon6:c.709+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.709+1G>A;ENST00000400483:exon6:c.709+1G>A;ENST00000424526:exon6:c.709+1G>A;ENST00000269218:exon6:c.709+1G>A;ENST00000580732:exon6:c.709+1G>A;ENST00000579454:exon1:c.101+1G>A)	.	.	0.999992425382947	0.944
18	18981288	G	C	18	21401327	y	y	splicing	GREB1L(NM_001142966:exon6:c.709+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.709+1G>C;ENST00000400483:exon6:c.709+1G>C;ENST00000424526:exon6:c.709+1G>C;ENST00000269218:exon6:c.709+1G>C;ENST00000580732:exon6:c.709+1G>C;ENST00000579454:exon1:c.101+1G>C)	.	.	0.999992425382947	0.944
18	18981288	G	T	18	21401327	y	y	splicing	GREB1L(NM_001142966:exon6:c.709+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.709+1G>T;ENST00000400483:exon6:c.709+1G>T;ENST00000424526:exon6:c.709+1G>T;ENST00000269218:exon6:c.709+1G>T;ENST00000580732:exon6:c.709+1G>T;ENST00000579454:exon1:c.101+1G>T)	.	.	0.999992425382947	0.944
18	18981289	T	A	18	21401328	y	y	splicing	GREB1L(NM_001142966:exon6:c.709+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.709+2T>A;ENST00000400483:exon6:c.709+2T>A;ENST00000424526:exon6:c.709+2T>A;ENST00000269218:exon6:c.709+2T>A;ENST00000580732:exon6:c.709+2T>A;ENST00000579454:exon1:c.101+2T>A)	.	.	0.999990764389106	0.946
18	18981289	T	C	18	21401328	y	y	splicing	GREB1L(NM_001142966:exon6:c.709+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.709+2T>C;ENST00000400483:exon6:c.709+2T>C;ENST00000424526:exon6:c.709+2T>C;ENST00000269218:exon6:c.709+2T>C;ENST00000580732:exon6:c.709+2T>C;ENST00000579454:exon1:c.101+2T>C)	.	.	0.994010752020144	0.694
18	18981289	T	G	18	21401328	y	y	splicing	GREB1L(NM_001142966:exon6:c.709+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon6:c.709+2T>G;ENST00000400483:exon6:c.709+2T>G;ENST00000424526:exon6:c.709+2T>G;ENST00000269218:exon6:c.709+2T>G;ENST00000580732:exon6:c.709+2T>G;ENST00000579454:exon1:c.101+2T>G)	.	.	0.999990764389106	0.946
18	18981290	A	C	18	21401329	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999927761229548	0.954
18	18981290	A	G	18	21401329	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999459396437146	0.946
18	18981290	A	T	18	21401329	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999893978571807	0.97
18	18981291	G	A	18	21401330	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.47078151177176E-4	0.076
18	18981291	G	C	18	21401330	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.97446660126475E-4	0.244
18	18981291	G	T	18	21401330	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.35787041121212E-4	0.09
18	18981292	T	A	18	21401331	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.174458457215081	0.398
18	18981292	T	C	18	21401331	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0205639066125569	0.2
18	18981292	T	G	18	21401331	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00186249305248129	0.058
18	18981293	C	A	18	21401332	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.425098708715468	0.344
18	18981293	C	G	18	21401332	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0124817519603714	0.238
18	18981293	C	T	18	21401332	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.194397148539055	0.29
18	18981294	A	C	18	21401333	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00526826274119698	0.046
18	18981294	A	G	18	21401333	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00526826274119698	0.034
18	18981294	A	T	18	21401333	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00244758927493082	0.03
18	18981295	A	C	18	21401334	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.14126556865357E-5	0.026
18	18981295	A	G	18	21401334	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.26663309416949E-5	0.026
18	18981295	A	T	18	21401334	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	9.79360613823258E-5	0.022
18	18983821	A	C	18	21403860	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.412744143400848	0.622
18	18983821	A	G	18	21403860	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.560020718968724	0.676
18	18983821	A	T	18	21403860	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.461223114696474	0.556
18	18983822	C	A	18	21403861	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.74002573073617E-4	0.064
18	18983822	C	G	18	21403861	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.996422776186989	0.878
18	18983822	C	T	18	21403861	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.5531041942604E-5	0.062
18	18983823	T	A	18	21403862	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.872240621733061	0.644
18	18983823	T	C	18	21403862	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.236558285521043	0.43
18	18983823	T	G	18	21403862	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.829084594611332	0.598
18	18983824	C	A	18	21403863	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.08581962361368E-4	0.098
18	18983824	C	G	18	21403863	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.98208595883389E-4	0.108
18	18983824	C	T	18	21403863	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.94312178885485E-4	0.206
18	18983825	T	A	18	21403864	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0022787679533222	0.1
18	18983825	T	C	18	21403864	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.23750603436037E-4	0.01
18	18983825	T	G	18	21403864	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00105315000235826	0.056
18	18983826	T	A	18	21403865	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.47221586117308E-4	0.126
18	18983826	T	C	18	21403865	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.46928739147248E-5	0.002
18	18983826	T	G	18	21403865	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.03387027476619E-4	0.046
18	18983827	T	A	18	21403866	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.194502116422538	0.236
18	18983827	T	C	18	21403866	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.67462322637179E-4	0.008
18	18983827	T	G	18	21403866	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.174943799540488	0.216
18	18983828	T	A	18	21403867	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.117821060053167	0.372
18	18983828	T	C	18	21403867	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00203644117840142	0.086
18	18983828	T	G	18	21403867	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.376171715846588	0.468
18	18983829	C	A	18	21403868	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.80911663408407E-5	0.008
18	18983829	C	G	18	21403868	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.23783819869101E-5	0.012
18	18983829	C	T	18	21403868	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.80911663408407E-5	0.014
18	18983830	C	A	18	21403869	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.504429979902875	0.482
18	18983830	C	G	18	21403869	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.992997709001359	0.806
18	18983830	C	T	18	21403869	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00282277923357035	0.038
18	18983831	A	C	18	21403870	y	y	splicing	GREB1L(NM_001142966:exon7:c.710-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.710-2A>C;ENST00000400483:exon7:c.710-2A>C;ENST00000424526:exon7:c.710-2A>C;ENST00000269218:exon7:c.710-2A>C;ENST00000580732:exon7:c.710-2A>C;ENST00000579454:exon2:c.102-2A>C)	.	.	0.999988247793601	0.928
18	18983831	A	G	18	21403870	y	y	splicing	GREB1L(NM_001142966:exon7:c.710-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.710-2A>G;ENST00000400483:exon7:c.710-2A>G;ENST00000424526:exon7:c.710-2A>G;ENST00000269218:exon7:c.710-2A>G;ENST00000580732:exon7:c.710-2A>G;ENST00000579454:exon2:c.102-2A>G)	.	.	0.999988247793601	0.928
18	18983831	A	T	18	21403870	y	y	splicing	GREB1L(NM_001142966:exon7:c.710-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.710-2A>T;ENST00000400483:exon7:c.710-2A>T;ENST00000424526:exon7:c.710-2A>T;ENST00000269218:exon7:c.710-2A>T;ENST00000580732:exon7:c.710-2A>T;ENST00000579454:exon2:c.102-2A>T)	.	.	0.999988247793601	0.928
18	18983832	G	A	18	21403871	y	y	splicing	GREB1L(NM_001142966:exon7:c.710-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.710-1G>A;ENST00000400483:exon7:c.710-1G>A;ENST00000424526:exon7:c.710-1G>A;ENST00000269218:exon7:c.710-1G>A;ENST00000580732:exon7:c.710-1G>A;ENST00000579454:exon2:c.102-1G>A)	.	.	0.999985532734767	0.936
18	18983832	G	C	18	21403871	y	y	splicing	GREB1L(NM_001142966:exon7:c.710-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.710-1G>C;ENST00000400483:exon7:c.710-1G>C;ENST00000424526:exon7:c.710-1G>C;ENST00000269218:exon7:c.710-1G>C;ENST00000580732:exon7:c.710-1G>C;ENST00000579454:exon2:c.102-1G>C)	.	.	0.999985532734767	0.936
18	18983832	G	T	18	21403871	y	y	splicing	GREB1L(NM_001142966:exon7:c.710-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.710-1G>T;ENST00000400483:exon7:c.710-1G>T;ENST00000424526:exon7:c.710-1G>T;ENST00000269218:exon7:c.710-1G>T;ENST00000580732:exon7:c.710-1G>T;ENST00000579454:exon2:c.102-1G>T)	.	.	0.999985532734767	0.936
18	18983833	A	C	18	21403872	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.A710C:p.E237A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A710C:p.E237A;ENSG00000141449:ENST00000269218:exon7:c.A710C:p.E237A;ENSG00000141449:ENST00000431264:exon7:c.A710C:p.E237A;ENSG00000141449:ENST00000424526:exon7:c.A710C:p.E237A;ENSG00000141449:ENST00000400483:exon7:c.A710C:p.E237A;	0.360965433521765	0.614
18	18983833	A	G	18	21403872	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.A710G:p.E237G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A710G:p.E237G;ENSG00000141449:ENST00000269218:exon7:c.A710G:p.E237G;ENSG00000141449:ENST00000431264:exon7:c.A710G:p.E237G;ENSG00000141449:ENST00000424526:exon7:c.A710G:p.E237G;ENSG00000141449:ENST00000400483:exon7:c.A710G:p.E237G;	0.496624205739936	0.632
18	18983833	A	T	18	21403872	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.A710T:p.E237V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A710T:p.E237V;ENSG00000141449:ENST00000269218:exon7:c.A710T:p.E237V;ENSG00000141449:ENST00000431264:exon7:c.A710T:p.E237V;ENSG00000141449:ENST00000424526:exon7:c.A710T:p.E237V;ENSG00000141449:ENST00000400483:exon7:c.A710T:p.E237V;	0.397312673078319	0.534
18	18983834	A	C	18	21403873	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.A711C:p.E237D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A711C:p.E237D;ENSG00000141449:ENST00000269218:exon7:c.A711C:p.E237D;ENSG00000141449:ENST00000431264:exon7:c.A711C:p.E237D;ENSG00000141449:ENST00000424526:exon7:c.A711C:p.E237D;ENSG00000141449:ENST00000400483:exon7:c.A711C:p.E237D;	0.83850378212769	0.8
18	18983834	A	G	18	21403873	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon7:c.A711G:p.E237E;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A711G:p.E237E;ENSG00000141449:ENST00000269218:exon7:c.A711G:p.E237E;ENSG00000141449:ENST00000431264:exon7:c.A711G:p.E237E;ENSG00000141449:ENST00000424526:exon7:c.A711G:p.E237E;ENSG00000141449:ENST00000400483:exon7:c.A711G:p.E237E;	0.0587393547091263	0.358
18	18983834	A	T	18	21403873	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.A711T:p.E237D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A711T:p.E237D;ENSG00000141449:ENST00000269218:exon7:c.A711T:p.E237D;ENSG00000141449:ENST00000431264:exon7:c.A711T:p.E237D;ENSG00000141449:ENST00000424526:exon7:c.A711T:p.E237D;ENSG00000141449:ENST00000400483:exon7:c.A711T:p.E237D;	0.804188025427261	0.736
18	18983953	C	A	18	21403992	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.C830A:p.T277K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.C830A:p.T277K;ENSG00000141449:ENST00000269218:exon7:c.C830A:p.T277K;ENSG00000141449:ENST00000431264:exon7:c.C830A:p.T277K;ENSG00000141449:ENST00000424526:exon7:c.C830A:p.T277K;ENSG00000141449:ENST00000400483:exon7:c.C830A:p.T277K;	0.842294640638057	0.716
18	18983953	C	G	18	21403992	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.C830G:p.T277R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.C830G:p.T277R;ENSG00000141449:ENST00000269218:exon7:c.C830G:p.T277R;ENSG00000141449:ENST00000431264:exon7:c.C830G:p.T277R;ENSG00000141449:ENST00000424526:exon7:c.C830G:p.T277R;ENSG00000141449:ENST00000400483:exon7:c.C830G:p.T277R;	0.567053113238425	0.606
18	18983953	C	T	18	21403992	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.C830T:p.T277I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.C830T:p.T277I;ENSG00000141449:ENST00000269218:exon7:c.C830T:p.T277I;ENSG00000141449:ENST00000431264:exon7:c.C830T:p.T277I;ENSG00000141449:ENST00000424526:exon7:c.C830T:p.T277I;ENSG00000141449:ENST00000400483:exon7:c.C830T:p.T277I;	0.99750905775292	0.908
18	18983954	A	C	18	21403993	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon7:c.A831C:p.T277T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A831C:p.T277T;ENSG00000141449:ENST00000269218:exon7:c.A831C:p.T277T;ENSG00000141449:ENST00000431264:exon7:c.A831C:p.T277T;ENSG00000141449:ENST00000424526:exon7:c.A831C:p.T277T;ENSG00000141449:ENST00000400483:exon7:c.A831C:p.T277T;	0.998538347837523	0.96
18	18983954	A	G	18	21403993	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon7:c.A831G:p.T277T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A831G:p.T277T;ENSG00000141449:ENST00000269218:exon7:c.A831G:p.T277T;ENSG00000141449:ENST00000431264:exon7:c.A831G:p.T277T;ENSG00000141449:ENST00000424526:exon7:c.A831G:p.T277T;ENSG00000141449:ENST00000400483:exon7:c.A831G:p.T277T;	0.998320995686833	0.948
18	18983954	A	T	18	21403993	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon7:c.A831T:p.T277T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.A831T:p.T277T;ENSG00000141449:ENST00000269218:exon7:c.A831T:p.T277T;ENSG00000141449:ENST00000431264:exon7:c.A831T:p.T277T;ENSG00000141449:ENST00000424526:exon7:c.A831T:p.T277T;ENSG00000141449:ENST00000400483:exon7:c.A831T:p.T277T;	0.998391596131084	0.988
18	18983955	G	A	18	21403994	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.G832A:p.D278N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.G832A:p.D278N;ENSG00000141449:ENST00000269218:exon7:c.G832A:p.D278N;ENSG00000141449:ENST00000431264:exon7:c.G832A:p.D278N;ENSG00000141449:ENST00000424526:exon7:c.G832A:p.D278N;ENSG00000141449:ENST00000400483:exon7:c.G832A:p.D278N;	0.999805184615854	1.0
18	18983955	G	C	18	21403994	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.G832C:p.D278H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.G832C:p.D278H;ENSG00000141449:ENST00000269218:exon7:c.G832C:p.D278H;ENSG00000141449:ENST00000431264:exon7:c.G832C:p.D278H;ENSG00000141449:ENST00000424526:exon7:c.G832C:p.D278H;ENSG00000141449:ENST00000400483:exon7:c.G832C:p.D278H;	0.999980188014833	0.982
18	18983955	G	T	18	21403994	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon7:c.G832T:p.D278Y;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon7:c.G832T:p.D278Y;ENSG00000141449:ENST00000269218:exon7:c.G832T:p.D278Y;ENSG00000141449:ENST00000431264:exon7:c.G832T:p.D278Y;ENSG00000141449:ENST00000424526:exon7:c.G832T:p.D278Y;ENSG00000141449:ENST00000400483:exon7:c.G832T:p.D278Y;	0.999847631340089	0.996
18	18983956	G	A	18	21403995	y	y	splicing	GREB1L(NM_001142966:exon7:c.832+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.832+1G>A;ENST00000400483:exon7:c.832+1G>A;ENST00000424526:exon7:c.832+1G>A;ENST00000269218:exon7:c.832+1G>A;ENST00000580732:exon7:c.832+1G>A;ENST00000579454:exon2:c.224+1G>A)	.	.	0.999981760802075	0.94
18	18983956	G	C	18	21403995	y	y	splicing	GREB1L(NM_001142966:exon7:c.832+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.832+1G>C;ENST00000400483:exon7:c.832+1G>C;ENST00000424526:exon7:c.832+1G>C;ENST00000269218:exon7:c.832+1G>C;ENST00000580732:exon7:c.832+1G>C;ENST00000579454:exon2:c.224+1G>C)	.	.	0.999981760802075	0.94
18	18983956	G	T	18	21403995	y	y	splicing	GREB1L(NM_001142966:exon7:c.832+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.832+1G>T;ENST00000400483:exon7:c.832+1G>T;ENST00000424526:exon7:c.832+1G>T;ENST00000269218:exon7:c.832+1G>T;ENST00000580732:exon7:c.832+1G>T;ENST00000579454:exon2:c.224+1G>T)	.	.	0.999981760802075	0.94
18	18983957	T	A	18	21403996	y	y	splicing	GREB1L(NM_001142966:exon7:c.832+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.832+2T>A;ENST00000400483:exon7:c.832+2T>A;ENST00000424526:exon7:c.832+2T>A;ENST00000269218:exon7:c.832+2T>A;ENST00000580732:exon7:c.832+2T>A;ENST00000579454:exon2:c.224+2T>A)	.	.	0.999989917668626	0.928
18	18983957	T	C	18	21403996	y	y	splicing	GREB1L(NM_001142966:exon7:c.832+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.832+2T>C;ENST00000400483:exon7:c.832+2T>C;ENST00000424526:exon7:c.832+2T>C;ENST00000269218:exon7:c.832+2T>C;ENST00000580732:exon7:c.832+2T>C;ENST00000579454:exon2:c.224+2T>C)	.	.	0.988809971481602	0.618
18	18983957	T	G	18	21403996	y	y	splicing	GREB1L(NM_001142966:exon7:c.832+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon7:c.832+2T>G;ENST00000400483:exon7:c.832+2T>G;ENST00000424526:exon7:c.832+2T>G;ENST00000269218:exon7:c.832+2T>G;ENST00000580732:exon7:c.832+2T>G;ENST00000579454:exon2:c.224+2T>G)	.	.	0.999989917668626	0.926
18	18983958	A	C	18	21403997	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999782879740766	0.91
18	18983958	A	G	18	21403997	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.995948956022862	0.836
18	18983958	A	T	18	21403997	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999334211426842	0.904
18	18983959	T	A	18	21403998	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	9.77388285939822E-5	0.028
18	18983959	T	C	18	21403998	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.05926556368349E-4	0.014
18	18983959	T	G	18	21403998	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.92220809691006E-5	0.016
18	18983960	G	A	18	21403999	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.213820673516336	0.438
18	18983960	G	C	18	21403999	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.715117095096513	0.5
18	18983960	G	T	18	21403999	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.431990843958218	0.384
18	18983961	G	A	18	21404000	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.11430469422341E-4	0.018
18	18983961	G	C	18	21404000	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.0568469853456E-4	0.05
18	18983961	G	T	18	21404000	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.98212625441968E-5	0.002
18	18983962	G	A	18	21404001	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.61777607792E-5	0.0
18	18983962	G	C	18	21404001	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.3002152990631E-5	0.0
18	18983962	G	T	18	21404001	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.84594935755628E-5	0.002
18	18983963	A	C	18	21404002	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.01221806309485E-5	0.0
18	18983963	A	G	18	21404002	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.12549792797431E-5	0.0
18	18983963	A	T	18	21404002	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.45077879448132E-5	0.002
18	19014896	T	A	18	21434935	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00179967188174772	0.164
18	19014896	T	C	18	21434935	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00179967188174772	0.21
18	19014896	T	G	18	21434935	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00179967188174772	0.21
18	19014897	T	A	18	21434936	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.803605016897643	0.754
18	19014897	T	C	18	21434936	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.803605016897643	0.766
18	19014897	T	G	18	21434936	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.803605016897643	0.766
18	19014898	C	A	18	21434937	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0152979872413424	0.184
18	19014898	C	G	18	21434937	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0136097067872151	0.152
18	19014898	C	T	18	21434937	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0152979872413424	0.214
18	19014899	A	C	18	21434938	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.4203087927027E-4	0.008
18	19014899	A	G	18	21434938	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.4203087927027E-4	0.008
18	19014899	A	T	18	21434938	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.4203087927027E-4	0.008
18	19014900	T	A	18	21434939	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00676797796995896	0.022
18	19014900	T	C	18	21434939	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.005627690349563	0.024
18	19014900	T	G	18	21434939	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.005627690349563	0.024
18	19014901	T	A	18	21434940	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0813865848456973	0.396
18	19014901	T	C	18	21434940	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0601239873533618	0.232
18	19014901	T	G	18	21434940	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0601239873533618	0.23
18	19014902	T	A	18	21434941	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.15838005414123E-4	0.0
18	19014902	T	C	18	21434941	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.15838005414123E-4	0.0
18	19014902	T	G	18	21434941	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.15838005414123E-4	0.0
18	19014903	T	A	18	21434942	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.15838005414123E-4	0.004
18	19014903	T	C	18	21434942	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.91335385279169E-4	0.0
18	19014903	T	G	18	21434942	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.91335385279169E-4	0.0
18	19014904	A	C	18	21434943	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.65995087540701E-4	0.01
18	19014904	A	G	18	21434943	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.65995087540701E-4	0.01
18	19014904	A	T	18	21434943	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.35500522259419E-4	0.01
18	19014905	A	C	18	21434944	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.89371736124219E-4	0.0
18	19014905	A	G	18	21434944	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.89371736124219E-4	0.0
18	19014905	A	T	18	21434944	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.91335385279169E-4	0.0
18	19014906	A	C	18	21434945	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.225-2A>C)	.	.	0.845746242777158	0.838
18	19014906	A	G	18	21434945	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.225-2A>G)	.	.	0.845746242777158	0.83
18	19014906	A	T	18	21434945	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.225-2A>T)	.	.	0.80928604158601	0.846
18	19014907	G	A	18	21434946	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.225-1G>A)	.	.	0.986350914801067	0.924
18	19014907	G	C	18	21434946	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.225-1G>C)	.	.	0.98940354016207	0.926
18	19014907	G	T	18	21434946	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.225-1G>T)	.	.	0.98940354016207	0.928
18	19014908	A	C	18	21434947	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.0141877749164601	0.084
18	19014908	A	G	18	21434947	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.0169935945075136	0.14
18	19014908	A	T	18	21434947	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.0141877749164601	0.046
18	19014909	T	A	18	21434948	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	7.15838005414123E-4	0.002
18	19014909	T	C	18	21434948	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	9.80257671126134E-4	0.024
18	19014909	T	G	18	21434948	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	7.91335385279169E-4	0.0
18	19015034	C	A	18	21435073	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.374751477109995	0.3
18	19015034	C	G	18	21435073	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.0638310437887336	0.214
18	19015034	C	T	18	21435073	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.822445538861235	0.6
18	19015035	A	C	18	21435074	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.0980333975144165	0.288
18	19015035	A	G	18	21435074	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.0980333975144165	0.282
18	19015035	A	T	18	21435074	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.0980333975144165	0.406
18	19015036	G	A	18	21435075	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.822445538861235	0.634
18	19015036	G	C	18	21435075	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.016809246825924	0.046
18	19015036	G	T	18	21435075	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	unknown	UNKNOWN	0.016809246825924	0.044
18	19015037	G	A	18	21435076	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.353+1G>A)	.	.	0.98714398147765	0.912
18	19015037	G	C	18	21435076	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.353+1G>C)	.	.	0.988451337246128	0.886
18	19015037	G	T	18	21435076	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.353+1G>T)	.	.	0.988451337246128	0.898
18	19015038	T	A	18	21435077	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.353+2T>A)	.	.	0.870569775712183	0.792
18	19015038	T	C	18	21435077	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.353+2T>C)	.	.	0.872388596894594	0.766
18	19015038	T	G	18	21435077	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000579454:exon3:c.353+2T>G)	.	.	0.872388596894594	0.766
18	19015039	G	A	18	21435078	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00945269749865717	0.04
18	19015039	G	C	18	21435078	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00846195178515722	0.032
18	19015039	G	T	18	21435078	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00945269749865717	0.036
18	19015040	A	C	18	21435079	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00689508868792027	0.024
18	19015040	A	G	18	21435079	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00689508868792027	0.024
18	19015040	A	T	18	21435079	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00829003674465697	0.024
18	19015041	T	A	18	21435080	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.35500522259419E-4	0.014
18	19015041	T	C	18	21435080	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.35500522259419E-4	0.024
18	19015041	T	G	18	21435080	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.35500522259419E-4	0.014
18	19015042	G	A	18	21435081	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0102637097925253	0.032
18	19015042	G	C	18	21435081	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00918874967650165	0.02
18	19015042	G	T	18	21435081	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0102637097925253	0.04
18	19015043	T	A	18	21435082	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00829003674465697	0.024
18	19015043	T	C	18	21435082	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00689508868792027	0.024
18	19015043	T	G	18	21435082	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00689508868792027	0.024
18	19015044	T	A	18	21435083	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00829003674465697	0.026
18	19015044	T	C	18	21435083	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00689508868792027	0.024
18	19015044	T	G	18	21435083	n	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00689508868792027	0.024
18	19019470	T	A	18	21439509	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.975832134425418	0.834
18	19019470	T	C	18	21439509	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.99988513099061E-5	0.0
18	19019470	T	G	18	21439509	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00125838402981295	0.086
18	19019471	G	A	18	21439510	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.86625310996687E-4	0.012
18	19019471	G	C	18	21439510	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.02352084198033E-5	0.014
18	19019471	G	T	18	21439510	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.74712769846687E-5	0.004
18	19019472	T	A	18	21439511	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999864604846391	0.97
18	19019472	T	C	18	21439511	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.11071237847271E-4	0.014
18	19019472	T	G	18	21439511	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.794946245918738	0.728
18	19019473	G	A	18	21439512	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0313536711692284	0.144
18	19019473	G	C	18	21439512	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00789478321592091	0.05
18	19019473	G	T	18	21439512	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00567078317004449	0.024
18	19019474	T	A	18	21439513	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.478699433928435	0.456
18	19019474	T	C	18	21439513	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00172734874597938	0.026
18	19019474	T	G	18	21439513	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0506156041899625	0.372
18	19019475	T	A	18	21439514	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0032667269997166	0.062
18	19019475	T	C	18	21439514	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.11003843543365E-5	0.0
18	19019475	T	G	18	21439514	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.81602519606744E-4	0.058
18	19019476	C	A	18	21439515	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.014807155341825	0.184
18	19019476	C	G	18	21439515	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0141781100620751	0.192
18	19019476	C	T	18	21439515	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.7980399283872E-5	0.018
18	19019477	T	A	18	21439516	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.113860612003624	0.336
18	19019477	T	C	18	21439516	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.40842429986735E-5	0.002
18	19019477	T	G	18	21439516	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.11957485327545	0.328
18	19019478	A	C	18	21439517	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.12870735260634E-5	0.002
18	19019478	A	G	18	21439517	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.31774985997023E-5	0.008
18	19019478	A	T	18	21439517	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.19217117028657E-4	0.008
18	19019479	C	A	18	21439518	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.97729299705555	0.684
18	19019479	C	G	18	21439518	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.99959584471773	0.948
18	19019479	C	T	18	21439518	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0190644979282904	0.206
18	19019480	A	C	18	21439519	y	y	splicing	GREB1L(NM_001142966:exon8:c.833-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.833-2A>C;ENST00000400483:exon8:c.833-2A>C;ENST00000424526:exon8:c.833-2A>C;ENST00000269218:exon8:c.833-2A>C;ENST00000580732:exon8:c.833-2A>C;ENST00000579454:exon4:c.354-2A>C)	.	.	0.99994568797423	0.93
18	19019480	A	G	18	21439519	y	y	splicing	GREB1L(NM_001142966:exon8:c.833-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.833-2A>G;ENST00000400483:exon8:c.833-2A>G;ENST00000424526:exon8:c.833-2A>G;ENST00000269218:exon8:c.833-2A>G;ENST00000580732:exon8:c.833-2A>G;ENST00000579454:exon4:c.354-2A>G)	.	.	0.99994568797423	0.93
18	19019480	A	T	18	21439519	y	y	splicing	GREB1L(NM_001142966:exon8:c.833-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.833-2A>T;ENST00000400483:exon8:c.833-2A>T;ENST00000424526:exon8:c.833-2A>T;ENST00000269218:exon8:c.833-2A>T;ENST00000580732:exon8:c.833-2A>T;ENST00000579454:exon4:c.354-2A>T)	.	.	0.999978952611685	0.932
18	19019481	G	A	18	21439520	y	y	splicing	GREB1L(NM_001142966:exon8:c.833-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.833-1G>A;ENST00000400483:exon8:c.833-1G>A;ENST00000424526:exon8:c.833-1G>A;ENST00000269218:exon8:c.833-1G>A;ENST00000580732:exon8:c.833-1G>A;ENST00000579454:exon4:c.354-1G>A)	.	.	0.999990361384395	0.938
18	19019481	G	C	18	21439520	y	y	splicing	GREB1L(NM_001142966:exon8:c.833-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.833-1G>C;ENST00000400483:exon8:c.833-1G>C;ENST00000424526:exon8:c.833-1G>C;ENST00000269218:exon8:c.833-1G>C;ENST00000580732:exon8:c.833-1G>C;ENST00000579454:exon4:c.354-1G>C)	.	.	0.999990361384395	0.938
18	19019481	G	T	18	21439520	y	y	splicing	GREB1L(NM_001142966:exon8:c.833-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.833-1G>T;ENST00000400483:exon8:c.833-1G>T;ENST00000424526:exon8:c.833-1G>T;ENST00000269218:exon8:c.833-1G>T;ENST00000580732:exon8:c.833-1G>T;ENST00000579454:exon4:c.354-1G>T)	.	.	0.999990361384395	0.938
18	19019482	A	C	18	21439521	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.A833C:p.D278A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A833C:p.D278A;ENSG00000141449:ENST00000269218:exon8:c.A833C:p.D278A;ENSG00000141449:ENST00000431264:exon8:c.A833C:p.D278A;ENSG00000141449:ENST00000424526:exon8:c.A833C:p.D278A;ENSG00000141449:ENST00000400483:exon8:c.A833C:p.D278A;	0.514646128923483	0.45
18	19019482	A	G	18	21439521	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.A833G:p.D278G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A833G:p.D278G;ENSG00000141449:ENST00000269218:exon8:c.A833G:p.D278G;ENSG00000141449:ENST00000431264:exon8:c.A833G:p.D278G;ENSG00000141449:ENST00000424526:exon8:c.A833G:p.D278G;ENSG00000141449:ENST00000400483:exon8:c.A833G:p.D278G;	0.00152380335658503	0.02
18	19019482	A	T	18	21439521	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.A833T:p.D278V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A833T:p.D278V;ENSG00000141449:ENST00000269218:exon8:c.A833T:p.D278V;ENSG00000141449:ENST00000431264:exon8:c.A833T:p.D278V;ENSG00000141449:ENST00000424526:exon8:c.A833T:p.D278V;ENSG00000141449:ENST00000400483:exon8:c.A833T:p.D278V;	0.615738465129969	0.552
18	19019483	T	A	18	21439522	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.T834A:p.D278E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.T834A:p.D278E;ENSG00000141449:ENST00000269218:exon8:c.T834A:p.D278E;ENSG00000141449:ENST00000431264:exon8:c.T834A:p.D278E;ENSG00000141449:ENST00000424526:exon8:c.T834A:p.D278E;ENSG00000141449:ENST00000400483:exon8:c.T834A:p.D278E;	0.00185792466889129	0.092
18	19019483	T	C	18	21439522	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon8:c.T834C:p.D278D;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.T834C:p.D278D;ENSG00000141449:ENST00000269218:exon8:c.T834C:p.D278D;ENSG00000141449:ENST00000431264:exon8:c.T834C:p.D278D;ENSG00000141449:ENST00000424526:exon8:c.T834C:p.D278D;ENSG00000141449:ENST00000400483:exon8:c.T834C:p.D278D;	0.00116478129011023	0.03
18	19019483	T	G	18	21439522	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.T834G:p.D278E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.T834G:p.D278E;ENSG00000141449:ENST00000269218:exon8:c.T834G:p.D278E;ENSG00000141449:ENST00000431264:exon8:c.T834G:p.D278E;ENSG00000141449:ENST00000424526:exon8:c.T834G:p.D278E;ENSG00000141449:ENST00000400483:exon8:c.T834G:p.D278E;	0.0016823052233039	0.064
18	19019596	A	C	18	21439635	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.A947C:p.Q316P;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A947C:p.Q316P;ENSG00000141449:ENST00000269218:exon8:c.A947C:p.Q316P;ENSG00000141449:ENST00000431264:exon8:c.A947C:p.Q316P;ENSG00000141449:ENST00000424526:exon8:c.A947C:p.Q316P;ENSG00000141449:ENST00000400483:exon8:c.A947C:p.Q316P;	8.81784648638669E-5	0.002
18	19019596	A	G	18	21439635	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.A947G:p.Q316R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A947G:p.Q316R;ENSG00000141449:ENST00000269218:exon8:c.A947G:p.Q316R;ENSG00000141449:ENST00000431264:exon8:c.A947G:p.Q316R;ENSG00000141449:ENST00000424526:exon8:c.A947G:p.Q316R;ENSG00000141449:ENST00000400483:exon8:c.A947G:p.Q316R;	0.00791662096064055	0.064
18	19019596	A	T	18	21439635	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.A947T:p.Q316L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A947T:p.Q316L;ENSG00000141449:ENST00000269218:exon8:c.A947T:p.Q316L;ENSG00000141449:ENST00000431264:exon8:c.A947T:p.Q316L;ENSG00000141449:ENST00000424526:exon8:c.A947T:p.Q316L;ENSG00000141449:ENST00000400483:exon8:c.A947T:p.Q316L;	0.906946457349744	0.732
18	19019597	A	C	18	21439636	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.A948C:p.Q316H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A948C:p.Q316H;ENSG00000141449:ENST00000269218:exon8:c.A948C:p.Q316H;ENSG00000141449:ENST00000431264:exon8:c.A948C:p.Q316H;ENSG00000141449:ENST00000424526:exon8:c.A948C:p.Q316H;ENSG00000141449:ENST00000400483:exon8:c.A948C:p.Q316H;	0.999840610982	0.98
18	19019597	A	G	18	21439636	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon8:c.A948G:p.Q316Q;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A948G:p.Q316Q;ENSG00000141449:ENST00000269218:exon8:c.A948G:p.Q316Q;ENSG00000141449:ENST00000431264:exon8:c.A948G:p.Q316Q;ENSG00000141449:ENST00000424526:exon8:c.A948G:p.Q316Q;ENSG00000141449:ENST00000400483:exon8:c.A948G:p.Q316Q;	0.999883088649877	0.996
18	19019597	A	T	18	21439636	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.A948T:p.Q316H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.A948T:p.Q316H;ENSG00000141449:ENST00000269218:exon8:c.A948T:p.Q316H;ENSG00000141449:ENST00000431264:exon8:c.A948T:p.Q316H;ENSG00000141449:ENST00000424526:exon8:c.A948T:p.Q316H;ENSG00000141449:ENST00000400483:exon8:c.A948T:p.Q316H;	0.999956033967309	0.99
18	19019598	G	A	18	21439637	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.G949A:p.A317T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.G949A:p.A317T;ENSG00000141449:ENST00000269218:exon8:c.G949A:p.A317T;ENSG00000141449:ENST00000431264:exon8:c.G949A:p.A317T;ENSG00000141449:ENST00000424526:exon8:c.G949A:p.A317T;ENSG00000141449:ENST00000400483:exon8:c.G949A:p.A317T;	0.999994913239225	1.0
18	19019598	G	C	18	21439637	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.G949C:p.A317P;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.G949C:p.A317P;ENSG00000141449:ENST00000269218:exon8:c.G949C:p.A317P;ENSG00000141449:ENST00000431264:exon8:c.G949C:p.A317P;ENSG00000141449:ENST00000424526:exon8:c.G949C:p.A317P;ENSG00000141449:ENST00000400483:exon8:c.G949C:p.A317P;	0.999997360428448	1.0
18	19019598	G	T	18	21439637	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon8:c.G949T:p.A317S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon8:c.G949T:p.A317S;ENSG00000141449:ENST00000269218:exon8:c.G949T:p.A317S;ENSG00000141449:ENST00000431264:exon8:c.G949T:p.A317S;ENSG00000141449:ENST00000424526:exon8:c.G949T:p.A317S;ENSG00000141449:ENST00000400483:exon8:c.G949T:p.A317S;	0.999995009246243	0.996
18	19019599	G	A	18	21439638	y	y	splicing	GREB1L(NM_001142966:exon8:c.949+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.949+1G>A;ENST00000400483:exon8:c.949+1G>A;ENST00000424526:exon8:c.949+1G>A;ENST00000269218:exon8:c.949+1G>A;ENST00000580732:exon8:c.949+1G>A;ENST00000579454:exon4:c.470+1G>A)	.	.	0.999990361384395	0.938
18	19019599	G	C	18	21439638	y	y	splicing	GREB1L(NM_001142966:exon8:c.949+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.949+1G>C;ENST00000400483:exon8:c.949+1G>C;ENST00000424526:exon8:c.949+1G>C;ENST00000269218:exon8:c.949+1G>C;ENST00000580732:exon8:c.949+1G>C;ENST00000579454:exon4:c.470+1G>C)	.	.	0.999990361384395	0.938
18	19019599	G	T	18	21439638	y	y	splicing	GREB1L(NM_001142966:exon8:c.949+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.949+1G>T;ENST00000400483:exon8:c.949+1G>T;ENST00000424526:exon8:c.949+1G>T;ENST00000269218:exon8:c.949+1G>T;ENST00000580732:exon8:c.949+1G>T;ENST00000579454:exon4:c.470+1G>T)	.	.	0.999990361384395	0.938
18	19019600	T	A	18	21439639	y	y	splicing	GREB1L(NM_001142966:exon8:c.949+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.949+2T>A;ENST00000400483:exon8:c.949+2T>A;ENST00000424526:exon8:c.949+2T>A;ENST00000269218:exon8:c.949+2T>A;ENST00000580732:exon8:c.949+2T>A;ENST00000579454:exon4:c.470+2T>A)	.	.	0.999988247793601	0.932
18	19019600	T	C	18	21439639	y	y	splicing	GREB1L(NM_001142966:exon8:c.949+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.949+2T>C;ENST00000400483:exon8:c.949+2T>C;ENST00000424526:exon8:c.949+2T>C;ENST00000269218:exon8:c.949+2T>C;ENST00000580732:exon8:c.949+2T>C;ENST00000579454:exon4:c.470+2T>C)	.	.	0.992577803696025	0.678
18	19019600	T	G	18	21439639	y	y	splicing	GREB1L(NM_001142966:exon8:c.949+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon8:c.949+2T>G;ENST00000400483:exon8:c.949+2T>G;ENST00000424526:exon8:c.949+2T>G;ENST00000269218:exon8:c.949+2T>G;ENST00000580732:exon8:c.949+2T>G;ENST00000579454:exon4:c.470+2T>G)	.	.	0.999988247793601	0.932
18	19019601	A	C	18	21439640	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999945090943037	0.964
18	19019601	A	G	18	21439640	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999774211622645	0.938
18	19019601	A	T	18	21439640	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999945090943037	0.972
18	19019602	C	A	18	21439641	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.31434774718285E-5	0.016
18	19019602	C	G	18	21439641	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.72786515523647E-5	0.008
18	19019602	C	T	18	21439641	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.14455813340165E-5	0.032
18	19019603	A	C	18	21439642	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	9.12726690926951E-5	0.012
18	19019603	A	G	18	21439642	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.31055272399952E-5	0.026
18	19019603	A	T	18	21439642	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.3937496275904E-4	0.006
18	19019604	A	C	18	21439643	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.10549275871892E-4	0.03
18	19019604	A	G	18	21439643	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.42856085724682E-5	0.0
18	19019604	A	T	18	21439643	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.36398780018771E-5	0.016
18	19019605	T	A	18	21439644	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.16289205861175E-5	0.0
18	19019605	T	C	18	21439644	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.45900571352954E-5	0.002
18	19019605	T	G	18	21439644	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.45900571352954E-5	0.0
18	19019606	G	A	18	21439645	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.65838372334217E-5	0.0
18	19019606	G	C	18	21439645	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.80401494084996E-5	0.0
18	19019606	G	T	18	21439645	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.80401494084996E-5	0.0
18	19020218	G	A	18	21440257	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.76112190869033E-4	0.014
18	19020218	G	C	18	21440257	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.19851318559853E-5	0.004
18	19020218	G	T	18	21440257	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.1999434063949E-5	0.002
18	19020219	T	A	18	21440258	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.840054765800728	0.662
18	19020219	T	C	18	21440258	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.155747567835914	0.276
18	19020219	T	G	18	21440258	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.656207893635727	0.52
18	19020220	T	A	18	21440259	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.687204757924967	0.592
18	19020220	T	C	18	21440259	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00175719408242334	0.09
18	19020220	T	G	18	21440259	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.453638073013565	0.422
18	19020221	T	A	18	21440260	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999887686982123	0.944
18	19020221	T	C	18	21440260	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.241880264522363	0.442
18	19020221	T	G	18	21440260	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.996882478764863	0.868
18	19020222	G	A	18	21440261	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.62908985310456E-4	0.006
18	19020222	G	C	18	21440261	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.88106186584155E-5	0.002
18	19020222	G	T	18	21440261	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.76841808218377E-5	0.006
18	19020223	T	A	18	21440262	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.233357116050973	0.51
18	19020223	T	C	18	21440262	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.59889745194051E-4	0.05
18	19020223	T	G	18	21440262	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.103983801223146	0.342
18	19020224	C	A	18	21440263	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.34147731087456E-4	0.144
18	19020224	C	G	18	21440263	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.1854791855085E-4	0.124
18	19020224	C	T	18	21440263	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.95747002574914E-5	0.004
18	19020225	T	A	18	21440264	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.626951282678781	0.556
18	19020225	T	C	18	21440264	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0132783767488803	0.056
18	19020225	T	G	18	21440264	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.944004132484363	0.588
18	19020226	T	A	18	21440265	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.39529107280033E-4	0.008
18	19020226	T	C	18	21440265	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.58956116962331E-4	0.02
18	19020226	T	G	18	21440265	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.04122578315554E-4	0.052
18	19020227	C	A	18	21440266	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.817406672248187	0.524
18	19020227	C	G	18	21440266	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999899671180445	0.968
18	19020227	C	T	18	21440266	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00537969028811235	0.064
18	19020228	A	C	18	21440267	y	y	splicing	GREB1L(NM_001142966:exon9:c.950-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.950-2A>C;ENST00000400483:exon9:c.950-2A>C;ENST00000424526:exon9:c.950-2A>C;ENST00000269218:exon9:c.950-2A>C;ENST00000580732:exon9:c.950-2A>C;ENST00000579454:exon5:c.471-2A>C)	.	.	0.999988247793601	0.926
18	19020228	A	G	18	21440267	y	y	splicing	GREB1L(NM_001142966:exon9:c.950-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.950-2A>G;ENST00000400483:exon9:c.950-2A>G;ENST00000424526:exon9:c.950-2A>G;ENST00000269218:exon9:c.950-2A>G;ENST00000580732:exon9:c.950-2A>G;ENST00000579454:exon5:c.471-2A>G)	.	.	0.999988247793601	0.926
18	19020228	A	T	18	21440267	y	y	splicing	GREB1L(NM_001142966:exon9:c.950-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.950-2A>T;ENST00000400483:exon9:c.950-2A>T;ENST00000424526:exon9:c.950-2A>T;ENST00000269218:exon9:c.950-2A>T;ENST00000580732:exon9:c.950-2A>T;ENST00000579454:exon5:c.471-2A>T)	.	.	0.999988247793601	0.928
18	19020229	G	A	18	21440268	y	y	splicing	GREB1L(NM_001142966:exon9:c.950-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.950-1G>A;ENST00000400483:exon9:c.950-1G>A;ENST00000424526:exon9:c.950-1G>A;ENST00000269218:exon9:c.950-1G>A;ENST00000580732:exon9:c.950-1G>A;ENST00000579454:exon5:c.471-1G>A)	.	.	0.999985532734767	0.936
18	19020229	G	C	18	21440268	y	y	splicing	GREB1L(NM_001142966:exon9:c.950-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.950-1G>C;ENST00000400483:exon9:c.950-1G>C;ENST00000424526:exon9:c.950-1G>C;ENST00000269218:exon9:c.950-1G>C;ENST00000580732:exon9:c.950-1G>C;ENST00000579454:exon5:c.471-1G>C)	.	.	0.999985532734767	0.936
18	19020229	G	T	18	21440268	y	y	splicing	GREB1L(NM_001142966:exon9:c.950-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.950-1G>T;ENST00000400483:exon9:c.950-1G>T;ENST00000424526:exon9:c.950-1G>T;ENST00000269218:exon9:c.950-1G>T;ENST00000580732:exon9:c.950-1G>T;ENST00000579454:exon5:c.471-1G>T)	.	.	0.999985532734767	0.936
18	19020230	C	A	18	21440269	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon9:c.C950A:p.A317D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.C950A:p.A317D;ENSG00000141449:ENST00000269218:exon9:c.C950A:p.A317D;ENSG00000141449:ENST00000431264:exon9:c.C950A:p.A317D;ENSG00000141449:ENST00000424526:exon9:c.C950A:p.A317D;ENSG00000141449:ENST00000400483:exon9:c.C950A:p.A317D;	0.948087114127741	0.806
18	19020230	C	G	18	21440269	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon9:c.C950G:p.A317G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.C950G:p.A317G;ENSG00000141449:ENST00000269218:exon9:c.C950G:p.A317G;ENSG00000141449:ENST00000431264:exon9:c.C950G:p.A317G;ENSG00000141449:ENST00000424526:exon9:c.C950G:p.A317G;ENSG00000141449:ENST00000400483:exon9:c.C950G:p.A317G;	0.0015121553310566	0.054
18	19020230	C	T	18	21440269	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon9:c.C950T:p.A317V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.C950T:p.A317V;ENSG00000141449:ENST00000269218:exon9:c.C950T:p.A317V;ENSG00000141449:ENST00000431264:exon9:c.C950T:p.A317V;ENSG00000141449:ENST00000424526:exon9:c.C950T:p.A317V;ENSG00000141449:ENST00000400483:exon9:c.C950T:p.A317V;	0.975830640818991	0.89
18	19020231	T	A	18	21440270	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon9:c.T951A:p.A317A;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.T951A:p.A317A;ENSG00000141449:ENST00000269218:exon9:c.T951A:p.A317A;ENSG00000141449:ENST00000431264:exon9:c.T951A:p.A317A;ENSG00000141449:ENST00000424526:exon9:c.T951A:p.A317A;ENSG00000141449:ENST00000400483:exon9:c.T951A:p.A317A;	0.0019075870649246	0.06
18	19020231	T	C	18	21440270	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon9:c.T951C:p.A317A;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.T951C:p.A317A;ENSG00000141449:ENST00000269218:exon9:c.T951C:p.A317A;ENSG00000141449:ENST00000431264:exon9:c.T951C:p.A317A;ENSG00000141449:ENST00000424526:exon9:c.T951C:p.A317A;ENSG00000141449:ENST00000400483:exon9:c.T951C:p.A317A;	0.00312844231083997	0.05
18	19020231	T	G	18	21440270	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon9:c.T951G:p.A317A;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.T951G:p.A317A;ENSG00000141449:ENST00000269218:exon9:c.T951G:p.A317A;ENSG00000141449:ENST00000431264:exon9:c.T951G:p.A317A;ENSG00000141449:ENST00000424526:exon9:c.T951G:p.A317A;ENSG00000141449:ENST00000400483:exon9:c.T951G:p.A317A;	0.00121585396452778	0.016
18	19020347	C	A	18	21440386	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon9:c.C1067A:p.T356K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.C1067A:p.T356K;ENSG00000141449:ENST00000269218:exon9:c.C1067A:p.T356K;ENSG00000141449:ENST00000431264:exon9:c.C1067A:p.T356K;ENSG00000141449:ENST00000424526:exon9:c.C1067A:p.T356K;ENSG00000141449:ENST00000400483:exon9:c.C1067A:p.T356K;	7.28713352789291E-5	0.046
18	19020347	C	G	18	21440386	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon9:c.C1067G:p.T356R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.C1067G:p.T356R;ENSG00000141449:ENST00000269218:exon9:c.C1067G:p.T356R;ENSG00000141449:ENST00000431264:exon9:c.C1067G:p.T356R;ENSG00000141449:ENST00000424526:exon9:c.C1067G:p.T356R;ENSG00000141449:ENST00000400483:exon9:c.C1067G:p.T356R;	0.00321975021121052	0.106
18	19020347	C	T	18	21440386	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon9:c.C1067T:p.T356M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.C1067T:p.T356M;ENSG00000141449:ENST00000269218:exon9:c.C1067T:p.T356M;ENSG00000141449:ENST00000431264:exon9:c.C1067T:p.T356M;ENSG00000141449:ENST00000424526:exon9:c.C1067T:p.T356M;ENSG00000141449:ENST00000400483:exon9:c.C1067T:p.T356M;	0.0120913472132384	0.162
18	19020348	G	A	18	21440387	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon9:c.G1068A:p.T356T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.G1068A:p.T356T;ENSG00000141449:ENST00000269218:exon9:c.G1068A:p.T356T;ENSG00000141449:ENST00000431264:exon9:c.G1068A:p.T356T;ENSG00000141449:ENST00000424526:exon9:c.G1068A:p.T356T;ENSG00000141449:ENST00000400483:exon9:c.G1068A:p.T356T;	1.1390017332474E-4	0.044
18	19020348	G	C	18	21440387	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon9:c.G1068C:p.T356T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.G1068C:p.T356T;ENSG00000141449:ENST00000269218:exon9:c.G1068C:p.T356T;ENSG00000141449:ENST00000431264:exon9:c.G1068C:p.T356T;ENSG00000141449:ENST00000424526:exon9:c.G1068C:p.T356T;ENSG00000141449:ENST00000400483:exon9:c.G1068C:p.T356T;	7.40663968205342E-5	0.0
18	19020348	G	T	18	21440387	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon9:c.G1068T:p.T356T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.G1068T:p.T356T;ENSG00000141449:ENST00000269218:exon9:c.G1068T:p.T356T;ENSG00000141449:ENST00000431264:exon9:c.G1068T:p.T356T;ENSG00000141449:ENST00000424526:exon9:c.G1068T:p.T356T;ENSG00000141449:ENST00000400483:exon9:c.G1068T:p.T356T;	2.95327853549286E-4	0.01
18	19020349	G	A	18	21440388	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon9:c.G1069A:p.E357K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.G1069A:p.E357K;ENSG00000141449:ENST00000269218:exon9:c.G1069A:p.E357K;ENSG00000141449:ENST00000431264:exon9:c.G1069A:p.E357K;ENSG00000141449:ENST00000424526:exon9:c.G1069A:p.E357K;ENSG00000141449:ENST00000400483:exon9:c.G1069A:p.E357K;	0.999964749615221	0.994
18	19020349	G	C	18	21440388	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon9:c.G1069C:p.E357Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon9:c.G1069C:p.E357Q;ENSG00000141449:ENST00000269218:exon9:c.G1069C:p.E357Q;ENSG00000141449:ENST00000431264:exon9:c.G1069C:p.E357Q;ENSG00000141449:ENST00000424526:exon9:c.G1069C:p.E357Q;ENSG00000141449:ENST00000400483:exon9:c.G1069C:p.E357Q;	0.999997287857683	0.934
18	19020349	G	T	18	21440388	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon9:c.G1069T:p.E357X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon9:c.G1069T:p.E357X;ENSG00000141449:ENST00000269218:exon9:c.G1069T:p.E357X;ENSG00000141449:ENST00000431264:exon9:c.G1069T:p.E357X;ENSG00000141449:ENST00000424526:exon9:c.G1069T:p.E357X;ENSG00000141449:ENST00000400483:exon9:c.G1069T:p.E357X;	0.999986505257242	0.998
18	19020350	G	A	18	21440389	y	y	splicing	GREB1L(NM_001142966:exon9:c.1069+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.1069+1G>A;ENST00000400483:exon9:c.1069+1G>A;ENST00000424526:exon9:c.1069+1G>A;ENST00000269218:exon9:c.1069+1G>A;ENST00000580732:exon9:c.1069+1G>A;ENST00000579454:exon5:c.590+1G>A)	.	.	0.999985532734767	0.934
18	19020350	G	C	18	21440389	y	y	splicing	GREB1L(NM_001142966:exon9:c.1069+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.1069+1G>C;ENST00000400483:exon9:c.1069+1G>C;ENST00000424526:exon9:c.1069+1G>C;ENST00000269218:exon9:c.1069+1G>C;ENST00000580732:exon9:c.1069+1G>C;ENST00000579454:exon5:c.590+1G>C)	.	.	0.999985532734767	0.934
18	19020350	G	T	18	21440389	y	y	splicing	GREB1L(NM_001142966:exon9:c.1069+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.1069+1G>T;ENST00000400483:exon9:c.1069+1G>T;ENST00000424526:exon9:c.1069+1G>T;ENST00000269218:exon9:c.1069+1G>T;ENST00000580732:exon9:c.1069+1G>T;ENST00000579454:exon5:c.590+1G>T)	.	.	0.999985532734767	0.934
18	19020351	T	A	18	21440390	y	y	splicing	GREB1L(NM_001142966:exon9:c.1069+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.1069+2T>A;ENST00000400483:exon9:c.1069+2T>A;ENST00000424526:exon9:c.1069+2T>A;ENST00000269218:exon9:c.1069+2T>A;ENST00000580732:exon9:c.1069+2T>A;ENST00000579454:exon5:c.590+2T>A)	.	.	0.999988247793601	0.926
18	19020351	T	C	18	21440390	y	y	splicing	GREB1L(NM_001142966:exon9:c.1069+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.1069+2T>C;ENST00000400483:exon9:c.1069+2T>C;ENST00000424526:exon9:c.1069+2T>C;ENST00000269218:exon9:c.1069+2T>C;ENST00000580732:exon9:c.1069+2T>C;ENST00000579454:exon5:c.590+2T>C)	.	.	0.99991522016916	0.878
18	19020351	T	G	18	21440390	y	y	splicing	GREB1L(NM_001142966:exon9:c.1069+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon9:c.1069+2T>G;ENST00000400483:exon9:c.1069+2T>G;ENST00000424526:exon9:c.1069+2T>G;ENST00000269218:exon9:c.1069+2T>G;ENST00000580732:exon9:c.1069+2T>G;ENST00000579454:exon5:c.590+2T>G)	.	.	0.999988247793601	0.926
18	19020352	A	C	18	21440391	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.985772656872453	0.872
18	19020352	A	G	18	21440391	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0630246544277799	0.38
18	19020352	A	T	18	21440391	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999435827019381	0.878
18	19020353	A	C	18	21440392	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.935736048067231	0.614
18	19020353	A	G	18	21440392	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.95655848700733	0.676
18	19020353	A	T	18	21440392	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.840304502286941	0.628
18	19020354	G	A	18	21440393	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.997704154398944	0.868
18	19020354	G	C	18	21440393	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999608032272103	0.87
18	19020354	G	T	18	21440393	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.99326336313239	0.782
18	19020355	A	C	18	21440394	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.2895999704973E-4	0.034
18	19020355	A	G	18	21440394	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.12112373950792E-5	0.008
18	19020355	A	T	18	21440394	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.11999675047433E-5	0.006
18	19020356	T	A	18	21440395	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.3065599853132E-4	0.004
18	19020356	T	C	18	21440395	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.09455303966642E-5	0.006
18	19020356	T	G	18	21440395	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	4.06088514165707E-5	0.006
18	19020357	T	A	18	21440396	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.15560255295803E-5	0.0
18	19020357	T	C	18	21440396	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.07097082037452E-5	0.0
18	19020357	T	G	18	21440396	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.99230049420779E-5	0.0
18	19021349	T	A	18	21441388	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0144948666000386	0.306
18	19021349	T	C	18	21441388	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00501125063334563	0.084
18	19021349	T	G	18	21441388	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00567624197195141	0.21
18	19021350	T	A	18	21441389	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00132207436429694	0.206
18	19021350	T	C	18	21441389	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00134797834108029	0.026
18	19021350	T	G	18	21441389	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.95765415581161E-4	0.146
18	19021351	T	A	18	21441390	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00108679646736277	0.086
18	19021351	T	C	18	21441390	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.1994920959499E-4	0.008
18	19021351	T	G	18	21441390	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.58756900554724E-4	0.074
18	19021352	T	A	18	21441391	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00300771930545136	0.176
18	19021352	T	C	18	21441391	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.55510703233711E-4	0.01
18	19021352	T	G	18	21441391	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00239903599667975	0.168
18	19021353	T	A	18	21441392	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.48188985711474E-4	0.022
18	19021353	T	C	18	21441392	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.75012811100038E-5	0.0
18	19021353	T	G	18	21441392	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.20452199205856E-4	0.016
18	19021354	T	A	18	21441393	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.44376433647892E-4	0.01
18	19021354	T	C	18	21441393	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.35847645994765E-5	0.0
18	19021354	T	G	18	21441393	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.69444271933105E-5	0.014
18	19021355	T	A	18	21441394	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00148200326553517	0.064
18	19021355	T	C	18	21441394	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.12031751561743E-4	0.018
18	19021355	T	G	18	21441394	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00365006983701356	0.098
18	19021356	T	A	18	21441395	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.34277190846601E-4	0.084
18	19021356	T	C	18	21441395	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.56570584143055E-5	0.006
18	19021356	T	G	18	21441395	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.65181729041981E-4	0.144
18	19021357	C	A	18	21441396	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.90619123238828E-4	0.018
18	19021357	C	G	18	21441396	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.97611980460562E-4	0.03
18	19021357	C	T	18	21441396	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.56703046000075E-4	0.02
18	19021358	C	A	18	21441397	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.996824616697251	0.678
18	19021358	C	G	18	21441397	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999853614322129	0.91
18	19021358	C	T	18	21441397	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0791893923462632	0.306
18	19021359	A	C	18	21441398	y	y	splicing	GREB1L(NM_001142966:exon10:c.1070-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1070-2A>C;ENST00000400483:exon10:c.1070-2A>C;ENST00000424526:exon10:c.1070-2A>C;ENST00000269218:exon10:c.1070-2A>C;ENST00000580732:exon10:c.1070-2A>C;ENST00000579454:exon6:c.591-2A>C)	.	.	0.99994568797423	0.93
18	19021359	A	G	18	21441398	y	y	splicing	GREB1L(NM_001142966:exon10:c.1070-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1070-2A>G;ENST00000400483:exon10:c.1070-2A>G;ENST00000424526:exon10:c.1070-2A>G;ENST00000269218:exon10:c.1070-2A>G;ENST00000580732:exon10:c.1070-2A>G;ENST00000579454:exon6:c.591-2A>G)	.	.	0.99994568797423	0.93
18	19021359	A	T	18	21441398	y	y	splicing	GREB1L(NM_001142966:exon10:c.1070-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1070-2A>T;ENST00000400483:exon10:c.1070-2A>T;ENST00000424526:exon10:c.1070-2A>T;ENST00000269218:exon10:c.1070-2A>T;ENST00000580732:exon10:c.1070-2A>T;ENST00000579454:exon6:c.591-2A>T)	.	.	0.999978952611685	0.93
18	19021360	G	A	18	21441399	y	y	splicing	GREB1L(NM_001142966:exon10:c.1070-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1070-1G>A;ENST00000400483:exon10:c.1070-1G>A;ENST00000424526:exon10:c.1070-1G>A;ENST00000269218:exon10:c.1070-1G>A;ENST00000580732:exon10:c.1070-1G>A;ENST00000579454:exon6:c.591-1G>A)	.	.	0.999982737877662	0.938
18	19021360	G	C	18	21441399	y	y	splicing	GREB1L(NM_001142966:exon10:c.1070-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1070-1G>C;ENST00000400483:exon10:c.1070-1G>C;ENST00000424526:exon10:c.1070-1G>C;ENST00000269218:exon10:c.1070-1G>C;ENST00000580732:exon10:c.1070-1G>C;ENST00000579454:exon6:c.591-1G>C)	.	.	0.999982737877662	0.932
18	19021360	G	T	18	21441399	y	y	splicing	GREB1L(NM_001142966:exon10:c.1070-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1070-1G>T;ENST00000400483:exon10:c.1070-1G>T;ENST00000424526:exon10:c.1070-1G>T;ENST00000269218:exon10:c.1070-1G>T;ENST00000580732:exon10:c.1070-1G>T;ENST00000579454:exon6:c.591-1G>T)	.	.	0.999982737877662	0.938
18	19021361	A	C	18	21441400	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.A1070C:p.E357A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.A1070C:p.E357A;ENSG00000141449:ENST00000269218:exon10:c.A1070C:p.E357A;ENSG00000141449:ENST00000431264:exon10:c.A1070C:p.E357A;ENSG00000141449:ENST00000424526:exon10:c.A1070C:p.E357A;ENSG00000141449:ENST00000400483:exon10:c.A1070C:p.E357A;	0.356561539258739	0.526
18	19021361	A	G	18	21441400	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.A1070G:p.E357G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.A1070G:p.E357G;ENSG00000141449:ENST00000269218:exon10:c.A1070G:p.E357G;ENSG00000141449:ENST00000431264:exon10:c.A1070G:p.E357G;ENSG00000141449:ENST00000424526:exon10:c.A1070G:p.E357G;ENSG00000141449:ENST00000400483:exon10:c.A1070G:p.E357G;	0.663960972766022	0.644
18	19021361	A	T	18	21441400	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.A1070T:p.E357V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.A1070T:p.E357V;ENSG00000141449:ENST00000269218:exon10:c.A1070T:p.E357V;ENSG00000141449:ENST00000431264:exon10:c.A1070T:p.E357V;ENSG00000141449:ENST00000424526:exon10:c.A1070T:p.E357V;ENSG00000141449:ENST00000400483:exon10:c.A1070T:p.E357V;	0.505735558751904	0.568
18	19021362	G	A	18	21441401	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon10:c.G1071A:p.E357E;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.G1071A:p.E357E;ENSG00000141449:ENST00000269218:exon10:c.G1071A:p.E357E;ENSG00000141449:ENST00000431264:exon10:c.G1071A:p.E357E;ENSG00000141449:ENST00000424526:exon10:c.G1071A:p.E357E;ENSG00000141449:ENST00000400483:exon10:c.G1071A:p.E357E;	6.1175732051037E-5	0.0
18	19021362	G	C	18	21441401	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.G1071C:p.E357D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.G1071C:p.E357D;ENSG00000141449:ENST00000269218:exon10:c.G1071C:p.E357D;ENSG00000141449:ENST00000431264:exon10:c.G1071C:p.E357D;ENSG00000141449:ENST00000424526:exon10:c.G1071C:p.E357D;ENSG00000141449:ENST00000400483:exon10:c.G1071C:p.E357D;	5.95960441947441E-5	0.02
18	19021362	G	T	18	21441401	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.G1071T:p.E357D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.G1071T:p.E357D;ENSG00000141449:ENST00000269218:exon10:c.G1071T:p.E357D;ENSG00000141449:ENST00000431264:exon10:c.G1071T:p.E357D;ENSG00000141449:ENST00000424526:exon10:c.G1071T:p.E357D;ENSG00000141449:ENST00000400483:exon10:c.G1071T:p.E357D;	1.06333886355501E-5	0.008
18	19021496	T	A	18	21441535	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.T1205A:p.I402K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.T1205A:p.I402K;ENSG00000141449:ENST00000269218:exon10:c.T1205A:p.I402K;ENSG00000141449:ENST00000431264:exon10:c.T1205A:p.I402K;ENSG00000141449:ENST00000424526:exon10:c.T1205A:p.I402K;ENSG00000141449:ENST00000400483:exon10:c.T1205A:p.I402K;	9.12485640684428E-4	0.02
18	19021496	T	C	18	21441535	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.T1205C:p.I402T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.T1205C:p.I402T;ENSG00000141449:ENST00000269218:exon10:c.T1205C:p.I402T;ENSG00000141449:ENST00000431264:exon10:c.T1205C:p.I402T;ENSG00000141449:ENST00000424526:exon10:c.T1205C:p.I402T;ENSG00000141449:ENST00000400483:exon10:c.T1205C:p.I402T;	0.711917589403803	0.656
18	19021496	T	G	18	21441535	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.T1205G:p.I402R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.T1205G:p.I402R;ENSG00000141449:ENST00000269218:exon10:c.T1205G:p.I402R;ENSG00000141449:ENST00000431264:exon10:c.T1205G:p.I402R;ENSG00000141449:ENST00000424526:exon10:c.T1205G:p.I402R;ENSG00000141449:ENST00000400483:exon10:c.T1205G:p.I402R;	0.0388272738430418	0.192
18	19021497	A	C	18	21441536	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon10:c.A1206C:p.I402I;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.A1206C:p.I402I;ENSG00000141449:ENST00000269218:exon10:c.A1206C:p.I402I;ENSG00000141449:ENST00000431264:exon10:c.A1206C:p.I402I;ENSG00000141449:ENST00000424526:exon10:c.A1206C:p.I402I;ENSG00000141449:ENST00000400483:exon10:c.A1206C:p.I402I;	0.97053714182472	0.832
18	19021497	A	G	18	21441536	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.A1206G:p.I402M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.A1206G:p.I402M;ENSG00000141449:ENST00000269218:exon10:c.A1206G:p.I402M;ENSG00000141449:ENST00000431264:exon10:c.A1206G:p.I402M;ENSG00000141449:ENST00000424526:exon10:c.A1206G:p.I402M;ENSG00000141449:ENST00000400483:exon10:c.A1206G:p.I402M;	0.995781045726964	0.96
18	19021497	A	T	18	21441536	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon10:c.A1206T:p.I402I;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.A1206T:p.I402I;ENSG00000141449:ENST00000269218:exon10:c.A1206T:p.I402I;ENSG00000141449:ENST00000431264:exon10:c.A1206T:p.I402I;ENSG00000141449:ENST00000424526:exon10:c.A1206T:p.I402I;ENSG00000141449:ENST00000400483:exon10:c.A1206T:p.I402I;	0.983764935202609	0.892
18	19021498	G	A	18	21441537	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.G1207A:p.G403S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.G1207A:p.G403S;ENSG00000141449:ENST00000269218:exon10:c.G1207A:p.G403S;ENSG00000141449:ENST00000431264:exon10:c.G1207A:p.G403S;ENSG00000141449:ENST00000424526:exon10:c.G1207A:p.G403S;ENSG00000141449:ENST00000400483:exon10:c.G1207A:p.G403S;	0.999976547116052	0.856
18	19021498	G	C	18	21441537	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.G1207C:p.G403R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.G1207C:p.G403R;ENSG00000141449:ENST00000269218:exon10:c.G1207C:p.G403R;ENSG00000141449:ENST00000431264:exon10:c.G1207C:p.G403R;ENSG00000141449:ENST00000424526:exon10:c.G1207C:p.G403R;ENSG00000141449:ENST00000400483:exon10:c.G1207C:p.G403R;	0.999995735644287	0.998
18	19021498	G	T	18	21441537	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon10:c.G1207T:p.G403C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon10:c.G1207T:p.G403C;ENSG00000141449:ENST00000269218:exon10:c.G1207T:p.G403C;ENSG00000141449:ENST00000431264:exon10:c.G1207T:p.G403C;ENSG00000141449:ENST00000424526:exon10:c.G1207T:p.G403C;ENSG00000141449:ENST00000400483:exon10:c.G1207T:p.G403C;	0.999963092057555	0.996
18	19021499	G	A	18	21441538	y	y	splicing	GREB1L(NM_001142966:exon10:c.1207+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1207+1G>A;ENST00000400483:exon10:c.1207+1G>A;ENST00000424526:exon10:c.1207+1G>A;ENST00000269218:exon10:c.1207+1G>A;ENST00000580732:exon10:c.1207+1G>A)	.	.	0.999990361384395	0.938
18	19021499	G	C	18	21441538	y	y	splicing	GREB1L(NM_001142966:exon10:c.1207+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1207+1G>C;ENST00000400483:exon10:c.1207+1G>C;ENST00000424526:exon10:c.1207+1G>C;ENST00000269218:exon10:c.1207+1G>C;ENST00000580732:exon10:c.1207+1G>C)	.	.	0.999990361384395	0.938
18	19021499	G	T	18	21441538	y	y	splicing	GREB1L(NM_001142966:exon10:c.1207+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1207+1G>T;ENST00000400483:exon10:c.1207+1G>T;ENST00000424526:exon10:c.1207+1G>T;ENST00000269218:exon10:c.1207+1G>T;ENST00000580732:exon10:c.1207+1G>T)	.	.	0.999990361384395	0.938
18	19021500	T	A	18	21441539	y	y	splicing	GREB1L(NM_001142966:exon10:c.1207+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1207+2T>A;ENST00000400483:exon10:c.1207+2T>A;ENST00000424526:exon10:c.1207+2T>A;ENST00000269218:exon10:c.1207+2T>A;ENST00000580732:exon10:c.1207+2T>A)	.	.	0.999988247793601	0.932
18	19021500	T	C	18	21441539	y	y	splicing	GREB1L(NM_001142966:exon10:c.1207+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1207+2T>C;ENST00000400483:exon10:c.1207+2T>C;ENST00000424526:exon10:c.1207+2T>C;ENST00000269218:exon10:c.1207+2T>C;ENST00000580732:exon10:c.1207+2T>C)	.	.	0.995320650369382	0.706
18	19021500	T	G	18	21441539	y	y	splicing	GREB1L(NM_001142966:exon10:c.1207+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon10:c.1207+2T>G;ENST00000400483:exon10:c.1207+2T>G;ENST00000424526:exon10:c.1207+2T>G;ENST00000269218:exon10:c.1207+2T>G;ENST00000580732:exon10:c.1207+2T>G)	.	.	0.999988247793601	0.932
18	19021501	A	C	18	21441540	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.994040805149701	0.764
18	19021501	A	G	18	21441540	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.710399677378367	0.458
18	19021501	A	T	18	21441540	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999441540765198	0.794
18	19021502	A	C	18	21441541	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.393813592943919	0.34
18	19021502	A	G	18	21441541	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.851650214024608	0.582
18	19021502	A	T	18	21441541	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.549571910303054	0.48
18	19021503	G	A	18	21441542	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.959473917612268	0.674
18	19021503	G	C	18	21441542	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.869054322370453	0.552
18	19021503	G	T	18	21441542	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.923639504055648	0.576
18	19021504	G	A	18	21441543	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.04985712972751E-5	0.0
18	19021504	G	C	18	21441543	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.33757498205609E-5	0.002
18	19021504	G	T	18	21441543	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.91058154597018E-5	0.0
18	19021505	T	A	18	21441544	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.3417392500537E-4	0.002
18	19021505	T	C	18	21441544	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.86697394307566E-5	0.0
18	19021505	T	G	18	21441544	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.86697394307566E-5	0.0
18	19021506	A	C	18	21441545	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.48293208623238E-5	0.0
18	19021506	A	G	18	21441545	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.3200200820218E-5	0.0
18	19021506	A	T	18	21441545	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.3200200820218E-5	0.0
18	19024173	C	A	18	21444212	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.968887647016094	0.65
18	19024173	C	G	18	21444212	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.968887647016094	0.63
18	19024173	C	T	18	21444212	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.957317523682655	0.704
18	19024174	T	A	18	21444213	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999269791530616	0.932
18	19024174	T	C	18	21444213	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.978586271738236	0.694
18	19024174	T	G	18	21444213	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999338543824887	0.918
18	19024175	A	C	18	21444214	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.53034750048684E-5	0.05
18	19024175	A	G	18	21444214	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.38039193694992E-4	0.18
18	19024175	A	T	18	21444214	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.3855177993675E-5	0.066
18	19024176	T	A	18	21444215	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.683072623295346	0.792
18	19024176	T	C	18	21444215	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00760208105922341	0.074
18	19024176	T	G	18	21444215	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999809930040741	0.948
18	19024177	T	A	18	21444216	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999563931042903	0.966
18	19024177	T	C	18	21444216	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0170479805338628	0.158
18	19024177	T	G	18	21444216	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.402415487755647	0.494
18	19024178	G	A	18	21444217	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998301558949915	0.962
18	19024178	G	C	18	21444217	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.73746595956251E-4	0.02
18	19024178	G	T	18	21444217	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.73746595956251E-4	0.028
18	19024179	G	A	18	21444218	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.996867847475114	0.97
18	19024179	G	C	18	21444218	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.73746595956251E-4	0.026
18	19024179	G	T	18	21444218	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.21572368347138E-4	0.024
18	19024180	G	A	18	21444219	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.83373199162636E-4	0.024
18	19024180	G	C	18	21444219	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.26924888916969E-4	0.044
18	19024180	G	T	18	21444219	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.09725504868859E-4	0.058
18	19024181	A	C	18	21444220	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.54422697787755E-5	0.006
18	19024181	A	G	18	21444220	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.86619427510238E-4	0.012
18	19024181	A	T	18	21444220	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.98828747200239E-4	0.026
18	19024182	C	A	18	21444221	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998690552195916	0.9
18	19024182	C	G	18	21444221	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999454436362471	0.884
18	19024182	C	T	18	21444221	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.151923755958948	0.142
18	19024183	A	C	18	21444222	y	y	splicing	GREB1L(NM_001142966:exon11:c.1208-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1208-2A>C;ENST00000400483:exon11:c.1208-2A>C;ENST00000424526:exon11:c.1208-2A>C;ENST00000269218:exon11:c.1208-2A>C;ENST00000580732:exon11:c.1208-2A>C)	.	.	0.999926102992308	0.914
18	19024183	A	G	18	21444222	y	y	splicing	GREB1L(NM_001142966:exon11:c.1208-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1208-2A>G;ENST00000400483:exon11:c.1208-2A>G;ENST00000424526:exon11:c.1208-2A>G;ENST00000269218:exon11:c.1208-2A>G;ENST00000580732:exon11:c.1208-2A>G)	.	.	0.999926102992308	0.914
18	19024183	A	T	18	21444222	y	y	splicing	GREB1L(NM_001142966:exon11:c.1208-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1208-2A>T;ENST00000400483:exon11:c.1208-2A>T;ENST00000424526:exon11:c.1208-2A>T;ENST00000269218:exon11:c.1208-2A>T;ENST00000580732:exon11:c.1208-2A>T)	.	.	0.999926102992308	0.914
18	19024184	G	A	18	21444223	y	y	splicing	GREB1L(NM_001142966:exon11:c.1208-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1208-1G>A;ENST00000400483:exon11:c.1208-1G>A;ENST00000424526:exon11:c.1208-1G>A;ENST00000269218:exon11:c.1208-1G>A;ENST00000580732:exon11:c.1208-1G>A)	.	.	0.999983315092066	0.908
18	19024184	G	C	18	21444223	y	y	splicing	GREB1L(NM_001142966:exon11:c.1208-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1208-1G>C;ENST00000400483:exon11:c.1208-1G>C;ENST00000424526:exon11:c.1208-1G>C;ENST00000269218:exon11:c.1208-1G>C;ENST00000580732:exon11:c.1208-1G>C)	.	.	0.999983315092066	0.908
18	19024184	G	T	18	21444223	y	y	splicing	GREB1L(NM_001142966:exon11:c.1208-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1208-1G>T;ENST00000400483:exon11:c.1208-1G>T;ENST00000424526:exon11:c.1208-1G>T;ENST00000269218:exon11:c.1208-1G>T;ENST00000580732:exon11:c.1208-1G>T)	.	.	0.999983315092066	0.908
18	19024185	G	A	18	21444224	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.G1208A:p.G403D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1208A:p.G403D;ENSG00000141449:ENST00000269218:exon11:c.G1208A:p.G403D;ENSG00000141449:ENST00000431264:exon11:c.G1208A:p.G403D;ENSG00000141449:ENST00000424526:exon11:c.G1208A:p.G403D;ENSG00000141449:ENST00000400483:exon11:c.G1208A:p.G403D;	0.99940370822898	0.936
18	19024185	G	C	18	21444224	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.G1208C:p.G403A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1208C:p.G403A;ENSG00000141449:ENST00000269218:exon11:c.G1208C:p.G403A;ENSG00000141449:ENST00000431264:exon11:c.G1208C:p.G403A;ENSG00000141449:ENST00000424526:exon11:c.G1208C:p.G403A;ENSG00000141449:ENST00000400483:exon11:c.G1208C:p.G403A;	0.999755559208252	0.954
18	19024185	G	T	18	21444224	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.G1208T:p.G403V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1208T:p.G403V;ENSG00000141449:ENST00000269218:exon11:c.G1208T:p.G403V;ENSG00000141449:ENST00000431264:exon11:c.G1208T:p.G403V;ENSG00000141449:ENST00000424526:exon11:c.G1208T:p.G403V;ENSG00000141449:ENST00000400483:exon11:c.G1208T:p.G403V;	0.999694290312491	0.936
18	19024186	C	A	18	21444225	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon11:c.C1209A:p.G403G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.C1209A:p.G403G;ENSG00000141449:ENST00000269218:exon11:c.C1209A:p.G403G;ENSG00000141449:ENST00000431264:exon11:c.C1209A:p.G403G;ENSG00000141449:ENST00000424526:exon11:c.C1209A:p.G403G;ENSG00000141449:ENST00000400483:exon11:c.C1209A:p.G403G;	1.53350240415862E-4	0.022
18	19024186	C	G	18	21444225	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon11:c.C1209G:p.G403G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.C1209G:p.G403G;ENSG00000141449:ENST00000269218:exon11:c.C1209G:p.G403G;ENSG00000141449:ENST00000431264:exon11:c.C1209G:p.G403G;ENSG00000141449:ENST00000424526:exon11:c.C1209G:p.G403G;ENSG00000141449:ENST00000400483:exon11:c.C1209G:p.G403G;	1.85757140135585E-4	0.01
18	19024186	C	T	18	21444225	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon11:c.C1209T:p.G403G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.C1209T:p.G403G;ENSG00000141449:ENST00000269218:exon11:c.C1209T:p.G403G;ENSG00000141449:ENST00000431264:exon11:c.C1209T:p.G403G;ENSG00000141449:ENST00000424526:exon11:c.C1209T:p.G403G;ENSG00000141449:ENST00000400483:exon11:c.C1209T:p.G403G;	6.54164336774523E-4	0.034
18	19024368	T	A	18	21444407	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.T1391A:p.L464Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.T1391A:p.L464Q;ENSG00000141449:ENST00000269218:exon11:c.T1391A:p.L464Q;ENSG00000141449:ENST00000431264:exon11:c.T1391A:p.L464Q;ENSG00000141449:ENST00000424526:exon11:c.T1391A:p.L464Q;ENSG00000141449:ENST00000400483:exon11:c.T1391A:p.L464Q;	0.70136344079109	0.756
18	19024368	T	C	18	21444407	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.T1391C:p.L464P;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.T1391C:p.L464P;ENSG00000141449:ENST00000269218:exon11:c.T1391C:p.L464P;ENSG00000141449:ENST00000431264:exon11:c.T1391C:p.L464P;ENSG00000141449:ENST00000424526:exon11:c.T1391C:p.L464P;ENSG00000141449:ENST00000400483:exon11:c.T1391C:p.L464P;	0.669837087943957	0.71
18	19024368	T	G	18	21444407	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.T1391G:p.L464R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.T1391G:p.L464R;ENSG00000141449:ENST00000269218:exon11:c.T1391G:p.L464R;ENSG00000141449:ENST00000431264:exon11:c.T1391G:p.L464R;ENSG00000141449:ENST00000424526:exon11:c.T1391G:p.L464R;ENSG00000141449:ENST00000400483:exon11:c.T1391G:p.L464R;	0.811978014614312	0.716
18	19024369	G	A	18	21444408	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon11:c.G1392A:p.L464L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1392A:p.L464L;ENSG00000141449:ENST00000269218:exon11:c.G1392A:p.L464L;ENSG00000141449:ENST00000431264:exon11:c.G1392A:p.L464L;ENSG00000141449:ENST00000424526:exon11:c.G1392A:p.L464L;ENSG00000141449:ENST00000400483:exon11:c.G1392A:p.L464L;	6.45503937191487E-5	0.016
18	19024369	G	C	18	21444408	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon11:c.G1392C:p.L464L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1392C:p.L464L;ENSG00000141449:ENST00000269218:exon11:c.G1392C:p.L464L;ENSG00000141449:ENST00000431264:exon11:c.G1392C:p.L464L;ENSG00000141449:ENST00000424526:exon11:c.G1392C:p.L464L;ENSG00000141449:ENST00000400483:exon11:c.G1392C:p.L464L;	3.92798184594131E-5	0.004
18	19024369	G	T	18	21444408	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon11:c.G1392T:p.L464L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1392T:p.L464L;ENSG00000141449:ENST00000269218:exon11:c.G1392T:p.L464L;ENSG00000141449:ENST00000431264:exon11:c.G1392T:p.L464L;ENSG00000141449:ENST00000424526:exon11:c.G1392T:p.L464L;ENSG00000141449:ENST00000400483:exon11:c.G1392T:p.L464L;	9.43563526801988E-5	0.01
18	19024370	G	A	18	21444409	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.G1393A:p.G465S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1393A:p.G465S;ENSG00000141449:ENST00000269218:exon11:c.G1393A:p.G465S;ENSG00000141449:ENST00000431264:exon11:c.G1393A:p.G465S;ENSG00000141449:ENST00000424526:exon11:c.G1393A:p.G465S;ENSG00000141449:ENST00000400483:exon11:c.G1393A:p.G465S;	0.999958181352131	0.982
18	19024370	G	C	18	21444409	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.G1393C:p.G465R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1393C:p.G465R;ENSG00000141449:ENST00000269218:exon11:c.G1393C:p.G465R;ENSG00000141449:ENST00000431264:exon11:c.G1393C:p.G465R;ENSG00000141449:ENST00000424526:exon11:c.G1393C:p.G465R;ENSG00000141449:ENST00000400483:exon11:c.G1393C:p.G465R;	0.999938763624981	0.942
18	19024370	G	T	18	21444409	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon11:c.G1393T:p.G465C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon11:c.G1393T:p.G465C;ENSG00000141449:ENST00000269218:exon11:c.G1393T:p.G465C;ENSG00000141449:ENST00000431264:exon11:c.G1393T:p.G465C;ENSG00000141449:ENST00000424526:exon11:c.G1393T:p.G465C;ENSG00000141449:ENST00000400483:exon11:c.G1393T:p.G465C;	0.999907667324381	0.898
18	19024371	G	A	18	21444410	y	y	splicing	GREB1L(NM_001142966:exon11:c.1393+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1393+1G>A;ENST00000400483:exon11:c.1393+1G>A;ENST00000424526:exon11:c.1393+1G>A;ENST00000269218:exon11:c.1393+1G>A;ENST00000580732:exon11:c.1393+1G>A)	.	.	0.999990361384395	0.938
18	19024371	G	C	18	21444410	y	y	splicing	GREB1L(NM_001142966:exon11:c.1393+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1393+1G>C;ENST00000400483:exon11:c.1393+1G>C;ENST00000424526:exon11:c.1393+1G>C;ENST00000269218:exon11:c.1393+1G>C;ENST00000580732:exon11:c.1393+1G>C)	.	.	0.999990361384395	0.938
18	19024371	G	T	18	21444410	y	y	splicing	GREB1L(NM_001142966:exon11:c.1393+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1393+1G>T;ENST00000400483:exon11:c.1393+1G>T;ENST00000424526:exon11:c.1393+1G>T;ENST00000269218:exon11:c.1393+1G>T;ENST00000580732:exon11:c.1393+1G>T)	.	.	0.999990361384395	0.938
18	19024372	T	A	18	21444411	y	y	splicing	GREB1L(NM_001142966:exon11:c.1393+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1393+2T>A;ENST00000400483:exon11:c.1393+2T>A;ENST00000424526:exon11:c.1393+2T>A;ENST00000269218:exon11:c.1393+2T>A;ENST00000580732:exon11:c.1393+2T>A)	.	.	0.999988247793601	0.93
18	19024372	T	C	18	21444411	y	y	splicing	GREB1L(NM_001142966:exon11:c.1393+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1393+2T>C;ENST00000400483:exon11:c.1393+2T>C;ENST00000424526:exon11:c.1393+2T>C;ENST00000269218:exon11:c.1393+2T>C;ENST00000580732:exon11:c.1393+2T>C)	.	.	0.995320650369382	0.712
18	19024372	T	G	18	21444411	y	y	splicing	GREB1L(NM_001142966:exon11:c.1393+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon11:c.1393+2T>G;ENST00000400483:exon11:c.1393+2T>G;ENST00000424526:exon11:c.1393+2T>G;ENST00000269218:exon11:c.1393+2T>G;ENST00000580732:exon11:c.1393+2T>G)	.	.	0.999988247793601	0.93
18	19024373	A	C	18	21444412	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.996004876755094	0.924
18	19024373	A	G	18	21444412	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.74035893557883	0.538
18	19024373	A	T	18	21444412	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.99905709304928	0.942
18	19024374	A	C	18	21444413	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.489451999713346	0.31
18	19024374	A	G	18	21444413	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.85894823365486	0.654
18	19024374	A	T	18	21444413	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.733462620568532	0.324
18	19024375	G	A	18	21444414	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999874491157646	0.918
18	19024375	G	C	18	21444414	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999895176520305	0.964
18	19024375	G	T	18	21444414	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.999748176577555	0.816
18	19024376	T	A	18	21444415	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0136473026177203	0.358
18	19024376	T	C	18	21444415	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00530212136388088	0.412
18	19024376	T	G	18	21444415	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00210224639529095	0.302
18	19024377	C	A	18	21444416	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.63204202406203E-5	0.0
18	19024377	C	G	18	21444416	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.08547261872894E-5	0.004
18	19024377	C	T	18	21444416	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.87625976172513E-5	0.002
18	19024378	A	C	18	21444417	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.84095414317909E-5	0.0
18	19024378	A	G	18	21444417	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.27831261885153E-5	0.0
18	19024378	A	T	18	21444417	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.06378494281408E-5	0.0
18	19029459	T	A	18	21449498	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.981325222139717	0.68
18	19029459	T	C	18	21449498	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.30533926430849	0.394
18	19029459	T	G	18	21449498	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.943958058109559	0.658
18	19029460	C	A	18	21449499	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.4122398494593E-4	0.036
18	19029460	C	G	18	21449499	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.45900882401795E-4	0.012
18	19029460	C	T	18	21449499	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.6792666923673E-5	0.0
18	19029461	T	A	18	21449500	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0737108488547559	0.262
18	19029461	T	C	18	21449500	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.38454398155765E-4	0.026
18	19029461	T	G	18	21449500	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00976774842958252	0.252
18	19029462	T	A	18	21449501	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.851563060875706	0.55
18	19029462	T	C	18	21449501	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.274469932984214	0.386
18	19029462	T	G	18	21449501	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.687503207589482	0.564
18	19029463	C	A	18	21449502	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00364775338215877	0.048
18	19029463	C	G	18	21449502	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.15764819668789E-4	0.032
18	19029463	C	T	18	21449502	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	5.81170495541277E-5	0.0
18	19029464	T	A	18	21449503	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.40455418840484E-4	0.008
18	19029464	T	C	18	21449503	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.65878641523279E-5	0.004
18	19029464	T	G	18	21449503	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.86887224866365E-4	0.012
18	19029465	A	C	18	21449504	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.95545499152639E-6	0.002
18	19029465	A	G	18	21449504	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.49838248485636E-5	0.004
18	19029465	A	T	18	21449504	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.31117978778541E-6	0.0
18	19029466	T	A	18	21449505	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	2.58505860066616E-4	0.126
18	19029466	T	C	18	21449505	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.44397995775566E-5	0.004
18	19029466	T	G	18	21449505	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.990755666809897	0.928
18	19029467	A	C	18	21449506	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.2357702590156E-5	0.0
18	19029467	A	G	18	21449506	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	8.65396202653742E-5	0.028
18	19029467	A	T	18	21449506	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.045506663275E-4	0.002
18	19029468	T	A	18	21449507	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.00249778779351669	0.182
18	19029468	T	C	18	21449507	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	3.46744003520922E-5	0.002
18	19029468	T	G	18	21449507	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.965341641085471	0.658
18	19029469	A	C	18	21449508	y	y	splicing	GREB1L(NM_001142966:exon12:c.1394-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1394-2A>C;ENST00000400483:exon12:c.1394-2A>C;ENST00000424526:exon12:c.1394-2A>C;ENST00000580732:exon12:c.1394-2A>C)	.	.	0.999988247793601	0.93
18	19029469	A	G	18	21449508	y	y	splicing	GREB1L(NM_001142966:exon12:c.1394-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1394-2A>G;ENST00000400483:exon12:c.1394-2A>G;ENST00000424526:exon12:c.1394-2A>G;ENST00000580732:exon12:c.1394-2A>G)	.	.	0.999988247793601	0.93
18	19029469	A	T	18	21449508	y	y	splicing	GREB1L(NM_001142966:exon12:c.1394-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1394-2A>T;ENST00000400483:exon12:c.1394-2A>T;ENST00000424526:exon12:c.1394-2A>T;ENST00000580732:exon12:c.1394-2A>T)	.	.	0.999988247793601	0.93
18	19029470	G	A	18	21449509	y	y	splicing	GREB1L(NM_001142966:exon12:c.1394-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1394-1G>A;ENST00000400483:exon12:c.1394-1G>A;ENST00000424526:exon12:c.1394-1G>A;ENST00000580732:exon12:c.1394-1G>A)	.	.	0.999990361384395	0.938
18	19029470	G	C	18	21449509	y	y	splicing	GREB1L(NM_001142966:exon12:c.1394-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1394-1G>C;ENST00000400483:exon12:c.1394-1G>C;ENST00000424526:exon12:c.1394-1G>C;ENST00000580732:exon12:c.1394-1G>C)	.	.	0.999990361384395	0.936
18	19029470	G	T	18	21449509	y	y	splicing	GREB1L(NM_001142966:exon12:c.1394-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1394-1G>T;ENST00000400483:exon12:c.1394-1G>T;ENST00000424526:exon12:c.1394-1G>T;ENST00000580732:exon12:c.1394-1G>T)	.	.	0.999990361384395	0.938
18	19029471	G	A	18	21449510	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.G1394A:p.G465D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.G1394A:p.G465D;ENSG00000141449:ENST00000431264:exon12:c.G1394A:p.G465D;ENSG00000141449:ENST00000424526:exon12:c.G1394A:p.G465D;ENSG00000141449:ENST00000400483:exon12:c.G1394A:p.G465D;	0.998056334294685	0.928
18	19029471	G	C	18	21449510	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.G1394C:p.G465A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.G1394C:p.G465A;ENSG00000141449:ENST00000431264:exon12:c.G1394C:p.G465A;ENSG00000141449:ENST00000424526:exon12:c.G1394C:p.G465A;ENSG00000141449:ENST00000400483:exon12:c.G1394C:p.G465A;	0.998248797830606	0.918
18	19029471	G	T	18	21449510	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.G1394T:p.G465V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.G1394T:p.G465V;ENSG00000141449:ENST00000431264:exon12:c.G1394T:p.G465V;ENSG00000141449:ENST00000424526:exon12:c.G1394T:p.G465V;ENSG00000141449:ENST00000400483:exon12:c.G1394T:p.G465V;	0.999937448249396	0.974
18	19029472	T	A	18	21449511	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon12:c.T1395A:p.G465G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.T1395A:p.G465G;ENSG00000141449:ENST00000431264:exon12:c.T1395A:p.G465G;ENSG00000141449:ENST00000424526:exon12:c.T1395A:p.G465G;ENSG00000141449:ENST00000400483:exon12:c.T1395A:p.G465G;	0.232233214563675	0.34
18	19029472	T	C	18	21449511	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon12:c.T1395C:p.G465G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.T1395C:p.G465G;ENSG00000141449:ENST00000431264:exon12:c.T1395C:p.G465G;ENSG00000141449:ENST00000424526:exon12:c.T1395C:p.G465G;ENSG00000141449:ENST00000400483:exon12:c.T1395C:p.G465G;	0.133287183199481	0.306
18	19029472	T	G	18	21449511	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon12:c.T1395G:p.G465G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.T1395G:p.G465G;ENSG00000141449:ENST00000431264:exon12:c.T1395G:p.G465G;ENSG00000141449:ENST00000424526:exon12:c.T1395G:p.G465G;ENSG00000141449:ENST00000400483:exon12:c.T1395G:p.G465G;	0.127445650321512	0.31
18	19029795	T	A	18	21449834	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon12:c.T1718A:p.L573X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon12:c.T1718A:p.L573X;ENSG00000141449:ENST00000431264:exon12:c.T1718A:p.L573X;ENSG00000141449:ENST00000424526:exon12:c.T1718A:p.L573X;ENSG00000141449:ENST00000400483:exon12:c.T1718A:p.L573X;ENSG00000141449:ENST00000581327:exon1:c.T200A:p.L67X;	0.526321995438928	0.774
18	19029795	T	C	18	21449834	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.T1718C:p.L573S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.T1718C:p.L573S;ENSG00000141449:ENST00000431264:exon12:c.T1718C:p.L573S;ENSG00000141449:ENST00000424526:exon12:c.T1718C:p.L573S;ENSG00000141449:ENST00000400483:exon12:c.T1718C:p.L573S;ENSG00000141449:ENST00000581327:exon1:c.T200C:p.L67S;	0.440346357150018	0.738
18	19029795	T	G	18	21449834	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon12:c.T1718G:p.L573X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon12:c.T1718G:p.L573X;ENSG00000141449:ENST00000431264:exon12:c.T1718G:p.L573X;ENSG00000141449:ENST00000424526:exon12:c.T1718G:p.L573X;ENSG00000141449:ENST00000400483:exon12:c.T1718G:p.L573X;ENSG00000141449:ENST00000581327:exon1:c.T200G:p.L67X;	0.637568253463443	0.83
18	19029796	A	C	18	21449835	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.A1719C:p.L573F;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.A1719C:p.L573F;ENSG00000141449:ENST00000431264:exon12:c.A1719C:p.L573F;ENSG00000141449:ENST00000424526:exon12:c.A1719C:p.L573F;ENSG00000141449:ENST00000400483:exon12:c.A1719C:p.L573F;ENSG00000141449:ENST00000581327:exon1:c.A201C:p.L67F;	0.373883984426961	0.634
18	19029796	A	G	18	21449835	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon12:c.A1719G:p.L573L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.A1719G:p.L573L;ENSG00000141449:ENST00000431264:exon12:c.A1719G:p.L573L;ENSG00000141449:ENST00000424526:exon12:c.A1719G:p.L573L;ENSG00000141449:ENST00000400483:exon12:c.A1719G:p.L573L;ENSG00000141449:ENST00000581327:exon1:c.A201G:p.L67L;	0.213448071472604	0.412
18	19029796	A	T	18	21449835	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.A1719T:p.L573F;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.A1719T:p.L573F;ENSG00000141449:ENST00000431264:exon12:c.A1719T:p.L573F;ENSG00000141449:ENST00000424526:exon12:c.A1719T:p.L573F;ENSG00000141449:ENST00000400483:exon12:c.A1719T:p.L573F;ENSG00000141449:ENST00000581327:exon1:c.A201T:p.L67F;	0.521538391551837	0.616
18	19029797	G	A	18	21449836	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.G1720A:p.G574S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.G1720A:p.G574S;ENSG00000141449:ENST00000431264:exon12:c.G1720A:p.G574S;ENSG00000141449:ENST00000424526:exon12:c.G1720A:p.G574S;ENSG00000141449:ENST00000400483:exon12:c.G1720A:p.G574S;ENSG00000141449:ENST00000581327:exon1:c.G202A:p.G68S;	0.999873974303718	0.98
18	19029797	G	C	18	21449836	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.G1720C:p.G574R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.G1720C:p.G574R;ENSG00000141449:ENST00000431264:exon12:c.G1720C:p.G574R;ENSG00000141449:ENST00000424526:exon12:c.G1720C:p.G574R;ENSG00000141449:ENST00000400483:exon12:c.G1720C:p.G574R;ENSG00000141449:ENST00000581327:exon1:c.G202C:p.G68R;	0.999904080617929	0.974
18	19029797	G	T	18	21449836	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon12:c.G1720T:p.G574C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon12:c.G1720T:p.G574C;ENSG00000141449:ENST00000431264:exon12:c.G1720T:p.G574C;ENSG00000141449:ENST00000424526:exon12:c.G1720T:p.G574C;ENSG00000141449:ENST00000400483:exon12:c.G1720T:p.G574C;ENSG00000141449:ENST00000581327:exon1:c.G202T:p.G68C;	0.999964491713568	0.972
18	19029798	G	A	18	21449837	y	y	splicing	GREB1L(NM_001142966:exon12:c.1720+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1720+1G>A;ENST00000400483:exon12:c.1720+1G>A;ENST00000424526:exon12:c.1720+1G>A;ENST00000580732:exon12:c.1720+1G>A;ENST00000581327:exon1:c.202+1G>A)	.	.	0.999985532734767	0.936
18	19029798	G	C	18	21449837	y	y	splicing	GREB1L(NM_001142966:exon12:c.1720+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1720+1G>C;ENST00000400483:exon12:c.1720+1G>C;ENST00000424526:exon12:c.1720+1G>C;ENST00000580732:exon12:c.1720+1G>C;ENST00000581327:exon1:c.202+1G>C)	.	.	0.999985532734767	0.936
18	19029798	G	T	18	21449837	y	y	splicing	GREB1L(NM_001142966:exon12:c.1720+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1720+1G>T;ENST00000400483:exon12:c.1720+1G>T;ENST00000424526:exon12:c.1720+1G>T;ENST00000580732:exon12:c.1720+1G>T;ENST00000581327:exon1:c.202+1G>T)	.	.	0.999985532734767	0.936
18	19029799	T	A	18	21449838	y	y	splicing	GREB1L(NM_001142966:exon12:c.1720+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1720+2T>A;ENST00000400483:exon12:c.1720+2T>A;ENST00000424526:exon12:c.1720+2T>A;ENST00000580732:exon12:c.1720+2T>A;ENST00000581327:exon1:c.202+2T>A)	.	.	0.999988247793601	0.928
18	19029799	T	C	18	21449838	y	y	splicing	GREB1L(NM_001142966:exon12:c.1720+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1720+2T>C;ENST00000400483:exon12:c.1720+2T>C;ENST00000424526:exon12:c.1720+2T>C;ENST00000580732:exon12:c.1720+2T>C;ENST00000581327:exon1:c.202+2T>C)	.	.	0.999929727175276	0.858
18	19029799	T	G	18	21449838	y	y	splicing	GREB1L(NM_001142966:exon12:c.1720+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon12:c.1720+2T>G;ENST00000400483:exon12:c.1720+2T>G;ENST00000424526:exon12:c.1720+2T>G;ENST00000580732:exon12:c.1720+2T>G;ENST00000581327:exon1:c.202+2T>G)	.	.	0.999988247793601	0.928
18	19029800	G	A	18	21449839	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	6.20411731477467E-5	0.008
18	19029800	G	C	18	21449839	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.179309192727991	0.414
18	19029800	G	T	18	21449839	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.375857297549966	0.468
18	19029801	A	C	18	21449840	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.176123574321194	0.22
18	19029801	A	G	18	21449840	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.960676808267574	0.628
18	19029801	A	T	18	21449840	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.919609923659707	0.52
18	19029802	G	A	18	21449841	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998827291828915	0.892
18	19029802	G	C	18	21449841	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.9973356270962	0.91
18	19029802	G	T	18	21449841	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.998119619536955	0.878
18	19029803	T	A	18	21449842	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.583990619485222	0.626
18	19029803	T	C	18	21449842	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.0778741052396649	0.352
18	19029803	T	G	18	21449842	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	0.279749757947202	0.388
18	19029804	A	C	18	21449843	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.13324429737708E-4	0.022
18	19029804	A	G	18	21449843	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.13324429737708E-4	0.02
18	19029804	A	T	18	21449843	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	7.84044845249584E-5	0.042
18	19029805	A	C	18	21449844	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.2331471065878E-4	0.0
18	19029805	A	G	18	21449844	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.2331471065878E-4	0.0
18	19029805	A	T	18	21449844	y	y	intronic	GREB1L	.	.	ncRNA_intronic	ENSG00000265751	.	.	1.20200958252478E-4	0.0
18	19030972	T	A	18	21451011	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	3.32693286459151E-4	0.08
18	19030972	T	C	18	21451011	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	6.41726188061785E-5	0.002
18	19030972	T	G	18	21451011	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	3.59639251531687E-4	0.044
18	19030973	C	A	18	21451012	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	2.13751484806835E-4	0.012
18	19030973	C	G	18	21451012	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	1.55553866586764E-4	0.002
18	19030973	C	T	18	21451012	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	1.82230576026697E-5	0.002
18	19030974	C	A	18	21451013	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	1.0506007660333E-4	0.01
18	19030974	C	G	18	21451013	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	5.40560332238841E-5	0.014
18	19030974	C	T	18	21451013	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	2.05346947111095E-5	0.004
18	19030975	A	C	18	21451014	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	2.63714774907258E-5	0.0
18	19030975	A	G	18	21451014	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	9.15710499156915E-5	0.0
18	19030975	A	T	18	21451014	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	2.09606756165871E-5	0.002
18	19030976	T	A	18	21451015	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	0.0239927493953792	0.192
18	19030976	T	C	18	21451015	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	0.0223537613375261	0.084
18	19030976	T	G	18	21451015	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	0.999095703602234	0.918
18	19030977	C	A	18	21451016	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	3.79905852013527E-4	0.114
18	19030977	C	G	18	21451016	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	1.96034595060528E-4	0.058
18	19030977	C	T	18	21451016	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	1.709009944239E-5	0.0
18	19030978	C	A	18	21451017	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	0.00316826492655425	0.18
18	19030978	C	G	18	21451017	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	0.00107346433398118	0.206
18	19030978	C	T	18	21451017	y	y	intronic	GREB1L	.	.	ncRNA_exonic	ENSG00000265751	.	.	2.86980349186722E-4	0.002
18	19030979	T	A	18	21451018	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998845091391056	0.8
18	19030979	T	C	18	21451018	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00517678722511076	0.078
18	19030979	T	G	18	21451018	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.230992560880439	0.392
18	19030980	G	A	18	21451019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.4572483093666E-4	0.002
18	19030980	G	C	18	21451019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.17836369115288E-4	0.008
18	19030980	G	T	18	21451019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.71317104393988E-4	0.01
18	19030981	C	A	18	21451020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.96948581656641	0.818
18	19030981	C	G	18	21451020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999948973970011	0.95
18	19030981	C	T	18	21451020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0504107510503109	0.12
18	19030982	A	C	18	21451021	y	y	splicing	GREB1L(NM_001142966:exon13:c.1721-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1721-2A>C;ENST00000400483:exon13:c.1721-2A>C;ENST00000424526:exon13:c.1721-2A>C;ENST00000269218:exon12:c.1394-2A>C;ENST00000580732:exon13:c.1721-2A>C;ENST00000581327:exon2:c.203-2A>C)	.	.	0.999988247793601	0.928
18	19030982	A	G	18	21451021	y	y	splicing	GREB1L(NM_001142966:exon13:c.1721-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1721-2A>G;ENST00000400483:exon13:c.1721-2A>G;ENST00000424526:exon13:c.1721-2A>G;ENST00000269218:exon12:c.1394-2A>G;ENST00000580732:exon13:c.1721-2A>G;ENST00000581327:exon2:c.203-2A>G)	.	.	0.999988247793601	0.928
18	19030982	A	T	18	21451021	y	y	splicing	GREB1L(NM_001142966:exon13:c.1721-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1721-2A>T;ENST00000400483:exon13:c.1721-2A>T;ENST00000424526:exon13:c.1721-2A>T;ENST00000269218:exon12:c.1394-2A>T;ENST00000580732:exon13:c.1721-2A>T;ENST00000581327:exon2:c.203-2A>T)	.	.	0.999988247793601	0.928
18	19030983	G	A	18	21451022	y	y	splicing	GREB1L(NM_001142966:exon13:c.1721-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1721-1G>A;ENST00000400483:exon13:c.1721-1G>A;ENST00000424526:exon13:c.1721-1G>A;ENST00000269218:exon12:c.1394-1G>A;ENST00000580732:exon13:c.1721-1G>A;ENST00000581327:exon2:c.203-1G>A)	.	.	0.999990361384395	0.938
18	19030983	G	C	18	21451022	y	y	splicing	GREB1L(NM_001142966:exon13:c.1721-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1721-1G>C;ENST00000400483:exon13:c.1721-1G>C;ENST00000424526:exon13:c.1721-1G>C;ENST00000269218:exon12:c.1394-1G>C;ENST00000580732:exon13:c.1721-1G>C;ENST00000581327:exon2:c.203-1G>C)	.	.	0.999990361384395	0.936
18	19030983	G	T	18	21451022	y	y	splicing	GREB1L(NM_001142966:exon13:c.1721-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1721-1G>T;ENST00000400483:exon13:c.1721-1G>T;ENST00000424526:exon13:c.1721-1G>T;ENST00000269218:exon12:c.1394-1G>T;ENST00000580732:exon13:c.1721-1G>T;ENST00000581327:exon2:c.203-1G>T)	.	.	0.999990361384395	0.936
18	19030984	G	A	18	21451023	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.G1721A:p.G574D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.G1721A:p.G574D;ENSG00000141449:ENST00000269218:exon12:c.G1394A:p.G465D;ENSG00000141449:ENST00000431264:exon13:c.G1721A:p.G574D;ENSG00000141449:ENST00000424526:exon13:c.G1721A:p.G574D;ENSG00000141449:ENST00000400483:exon13:c.G1721A:p.G574D;ENSG00000141449:ENST00000581327:exon2:c.G203A:p.G68D;	0.996869450059807	0.802
18	19030984	G	C	18	21451023	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.G1721C:p.G574A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.G1721C:p.G574A;ENSG00000141449:ENST00000269218:exon12:c.G1394C:p.G465A;ENSG00000141449:ENST00000431264:exon13:c.G1721C:p.G574A;ENSG00000141449:ENST00000424526:exon13:c.G1721C:p.G574A;ENSG00000141449:ENST00000400483:exon13:c.G1721C:p.G574A;ENSG00000141449:ENST00000581327:exon2:c.G203C:p.G68A;	0.999834666361749	0.894
18	19030984	G	T	18	21451023	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.G1721T:p.G574V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.G1721T:p.G574V;ENSG00000141449:ENST00000269218:exon12:c.G1394T:p.G465V;ENSG00000141449:ENST00000431264:exon13:c.G1721T:p.G574V;ENSG00000141449:ENST00000424526:exon13:c.G1721T:p.G574V;ENSG00000141449:ENST00000400483:exon13:c.G1721T:p.G574V;ENSG00000141449:ENST00000581327:exon2:c.G203T:p.G68V;	0.999762718289438	0.952
18	19030985	T	A	18	21451024	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon13:c.T1722A:p.G574G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.T1722A:p.G574G;ENSG00000141449:ENST00000269218:exon12:c.T1395A:p.G465G;ENSG00000141449:ENST00000431264:exon13:c.T1722A:p.G574G;ENSG00000141449:ENST00000424526:exon13:c.T1722A:p.G574G;ENSG00000141449:ENST00000400483:exon13:c.T1722A:p.G574G;ENSG00000141449:ENST00000581327:exon2:c.T204A:p.G68G;	3.80760065530876E-4	0.012
18	19030985	T	C	18	21451024	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon13:c.T1722C:p.G574G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.T1722C:p.G574G;ENSG00000141449:ENST00000269218:exon12:c.T1395C:p.G465G;ENSG00000141449:ENST00000431264:exon13:c.T1722C:p.G574G;ENSG00000141449:ENST00000424526:exon13:c.T1722C:p.G574G;ENSG00000141449:ENST00000400483:exon13:c.T1722C:p.G574G;ENSG00000141449:ENST00000581327:exon2:c.T204C:p.G68G;	3.287460241857E-4	0.014
18	19030985	T	G	18	21451024	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon13:c.T1722G:p.G574G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.T1722G:p.G574G;ENSG00000141449:ENST00000269218:exon12:c.T1395G:p.G465G;ENSG00000141449:ENST00000431264:exon13:c.T1722G:p.G574G;ENSG00000141449:ENST00000424526:exon13:c.T1722G:p.G574G;ENSG00000141449:ENST00000400483:exon13:c.T1722G:p.G574G;ENSG00000141449:ENST00000581327:exon2:c.T204G:p.G68G;	3.287460241857E-4	0.002
18	19031110	T	A	18	21451149	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon13:c.T1847A:p.L616X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon13:c.T1847A:p.L616X;ENSG00000141449:ENST00000269218:exon12:c.T1520A:p.L507X;ENSG00000141449:ENST00000431264:exon13:c.T1847A:p.L616X;ENSG00000141449:ENST00000424526:exon13:c.T1847A:p.L616X;ENSG00000141449:ENST00000400483:exon13:c.T1847A:p.L616X;ENSG00000141449:ENST00000581327:exon2:c.T329A:p.L110X;	0.756401985716327	0.782
18	19031110	T	C	18	21451149	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.T1847C:p.L616S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.T1847C:p.L616S;ENSG00000141449:ENST00000269218:exon12:c.T1520C:p.L507S;ENSG00000141449:ENST00000431264:exon13:c.T1847C:p.L616S;ENSG00000141449:ENST00000424526:exon13:c.T1847C:p.L616S;ENSG00000141449:ENST00000400483:exon13:c.T1847C:p.L616S;ENSG00000141449:ENST00000581327:exon2:c.T329C:p.L110S;	0.699577535868275	0.722
18	19031110	T	G	18	21451149	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon13:c.T1847G:p.L616X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon13:c.T1847G:p.L616X;ENSG00000141449:ENST00000269218:exon12:c.T1520G:p.L507X;ENSG00000141449:ENST00000431264:exon13:c.T1847G:p.L616X;ENSG00000141449:ENST00000424526:exon13:c.T1847G:p.L616X;ENSG00000141449:ENST00000400483:exon13:c.T1847G:p.L616X;ENSG00000141449:ENST00000581327:exon2:c.T329G:p.L110X;	0.838873291104742	0.812
18	19031111	A	C	18	21451150	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.A1848C:p.L616F;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.A1848C:p.L616F;ENSG00000141449:ENST00000269218:exon12:c.A1521C:p.L507F;ENSG00000141449:ENST00000431264:exon13:c.A1848C:p.L616F;ENSG00000141449:ENST00000424526:exon13:c.A1848C:p.L616F;ENSG00000141449:ENST00000400483:exon13:c.A1848C:p.L616F;ENSG00000141449:ENST00000581327:exon2:c.A330C:p.L110F;	0.990207839246831	0.898
18	19031111	A	G	18	21451150	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon13:c.A1848G:p.L616L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.A1848G:p.L616L;ENSG00000141449:ENST00000269218:exon12:c.A1521G:p.L507L;ENSG00000141449:ENST00000431264:exon13:c.A1848G:p.L616L;ENSG00000141449:ENST00000424526:exon13:c.A1848G:p.L616L;ENSG00000141449:ENST00000400483:exon13:c.A1848G:p.L616L;ENSG00000141449:ENST00000581327:exon2:c.A330G:p.L110L;	0.976358142088487	0.956
18	19031111	A	T	18	21451150	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.A1848T:p.L616F;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.A1848T:p.L616F;ENSG00000141449:ENST00000269218:exon12:c.A1521T:p.L507F;ENSG00000141449:ENST00000431264:exon13:c.A1848T:p.L616F;ENSG00000141449:ENST00000424526:exon13:c.A1848T:p.L616F;ENSG00000141449:ENST00000400483:exon13:c.A1848T:p.L616F;ENSG00000141449:ENST00000581327:exon2:c.A330T:p.L110F;	0.993633654755933	0.92
18	19031112	G	A	18	21451151	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.G1849A:p.G617S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.G1849A:p.G617S;ENSG00000141449:ENST00000269218:exon12:c.G1522A:p.G508S;ENSG00000141449:ENST00000431264:exon13:c.G1849A:p.G617S;ENSG00000141449:ENST00000424526:exon13:c.G1849A:p.G617S;ENSG00000141449:ENST00000400483:exon13:c.G1849A:p.G617S;ENSG00000141449:ENST00000581327:exon2:c.G331A:p.G111S;	0.999969810974194	0.962
18	19031112	G	C	18	21451151	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.G1849C:p.G617R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.G1849C:p.G617R;ENSG00000141449:ENST00000269218:exon12:c.G1522C:p.G508R;ENSG00000141449:ENST00000431264:exon13:c.G1849C:p.G617R;ENSG00000141449:ENST00000424526:exon13:c.G1849C:p.G617R;ENSG00000141449:ENST00000400483:exon13:c.G1849C:p.G617R;ENSG00000141449:ENST00000581327:exon2:c.G331C:p.G111R;	0.999923159496344	0.932
18	19031112	G	T	18	21451151	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon13:c.G1849T:p.G617C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon13:c.G1849T:p.G617C;ENSG00000141449:ENST00000269218:exon12:c.G1522T:p.G508C;ENSG00000141449:ENST00000431264:exon13:c.G1849T:p.G617C;ENSG00000141449:ENST00000424526:exon13:c.G1849T:p.G617C;ENSG00000141449:ENST00000400483:exon13:c.G1849T:p.G617C;ENSG00000141449:ENST00000581327:exon2:c.G331T:p.G111C;	0.999957039040581	0.988
18	19031113	G	A	18	21451152	y	y	splicing	GREB1L(NM_001142966:exon13:c.1849+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1849+1G>A;ENST00000400483:exon13:c.1849+1G>A;ENST00000424526:exon13:c.1849+1G>A;ENST00000269218:exon12:c.1522+1G>A;ENST00000580732:exon13:c.1849+1G>A;ENST00000581327:exon2:c.331+1G>A)	.	.	0.999990361384395	0.938
18	19031113	G	C	18	21451152	y	y	splicing	GREB1L(NM_001142966:exon13:c.1849+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1849+1G>C;ENST00000400483:exon13:c.1849+1G>C;ENST00000424526:exon13:c.1849+1G>C;ENST00000269218:exon12:c.1522+1G>C;ENST00000580732:exon13:c.1849+1G>C;ENST00000581327:exon2:c.331+1G>C)	.	.	0.999990361384395	0.938
18	19031113	G	T	18	21451152	y	y	splicing	GREB1L(NM_001142966:exon13:c.1849+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1849+1G>T;ENST00000400483:exon13:c.1849+1G>T;ENST00000424526:exon13:c.1849+1G>T;ENST00000269218:exon12:c.1522+1G>T;ENST00000580732:exon13:c.1849+1G>T;ENST00000581327:exon2:c.331+1G>T)	.	.	0.999990361384395	0.938
18	19031114	T	A	18	21451153	y	y	splicing	GREB1L(NM_001142966:exon13:c.1849+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1849+2T>A;ENST00000400483:exon13:c.1849+2T>A;ENST00000424526:exon13:c.1849+2T>A;ENST00000269218:exon12:c.1522+2T>A;ENST00000580732:exon13:c.1849+2T>A;ENST00000581327:exon2:c.331+2T>A)	.	.	0.999988247793601	0.932
18	19031114	T	C	18	21451153	y	y	splicing	GREB1L(NM_001142966:exon13:c.1849+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1849+2T>C;ENST00000400483:exon13:c.1849+2T>C;ENST00000424526:exon13:c.1849+2T>C;ENST00000269218:exon12:c.1522+2T>C;ENST00000580732:exon13:c.1849+2T>C;ENST00000581327:exon2:c.331+2T>C)	.	.	0.999929727175276	0.86
18	19031114	T	G	18	21451153	y	y	splicing	GREB1L(NM_001142966:exon13:c.1849+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon13:c.1849+2T>G;ENST00000400483:exon13:c.1849+2T>G;ENST00000424526:exon13:c.1849+2T>G;ENST00000269218:exon12:c.1522+2T>G;ENST00000580732:exon13:c.1849+2T>G;ENST00000581327:exon2:c.331+2T>G)	.	.	0.999988247793601	0.932
18	19031115	G	A	18	21451154	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.06431007487968E-4	0.002
18	19031115	G	C	18	21451154	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.310214933652247	0.642
18	19031115	G	T	18	21451154	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.482264966813793	0.57
18	19031116	A	C	18	21451155	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996937839687065	0.832
18	19031116	A	G	18	21451155	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997890430148296	0.88
18	19031116	A	T	18	21451155	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999197596297044	0.856
18	19031117	G	A	18	21451156	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999933678073447	0.882
18	19031117	G	C	18	21451156	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99989912294393	0.846
18	19031117	G	T	18	21451156	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999829774347455	0.78
18	19031118	T	A	18	21451157	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996844043408738	0.82
18	19031118	T	C	18	21451157	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.984504550141943	0.662
18	19031118	T	G	18	21451157	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.992606732079574	0.676
18	19031119	G	A	18	21451158	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.870457846534145	0.69
18	19031119	G	C	18	21451158	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.680462057151174	0.622
18	19031119	G	T	18	21451158	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.86521150033903	0.65
18	19031120	G	A	18	21451159	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0358006737300201	0.086
18	19031120	G	C	18	21451159	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0358006737300201	0.07
18	19031120	G	T	18	21451159	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0358006737300201	0.08
18	19032032	A	C	18	21452071	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.6471183820768E-4	0.238
18	19032032	A	G	18	21452071	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.9260800607302E-4	0.22
18	19032032	A	T	18	21452071	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.46608261665562E-4	0.224
18	19032033	T	A	18	21452072	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999638166034916	0.97
18	19032033	T	C	18	21452072	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997462739013308	0.778
18	19032033	T	G	18	21452072	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99998256472161	0.978
18	19032034	T	A	18	21452073	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998001192376516	0.834
18	19032034	T	C	18	21452073	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00663754456752061	0.214
18	19032034	T	G	18	21452073	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.91797669894553	0.68
18	19032035	T	A	18	21452074	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.8232211667615	0.47
18	19032035	T	C	18	21452074	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.65279115897412E-5	0.058
18	19032035	T	G	18	21452074	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.545460761295972	0.418
18	19032036	T	A	18	21452075	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999856381503198	0.982
18	19032036	T	C	18	21452075	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.67216526437013E-5	0.032
18	19032036	T	G	18	21452075	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.629674467955381	0.648
18	19032037	G	A	18	21452076	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0027475871930194	0.022
18	19032037	G	C	18	21452076	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.43761038304633E-4	0.01
18	19032037	G	T	18	21452076	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.30037471143031E-4	0.004
18	19032038	T	A	18	21452077	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.373780369356187	0.466
18	19032038	T	C	18	21452077	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0010907686278306	0.084
18	19032038	T	G	18	21452077	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0855369846611023	0.534
18	19032039	A	C	18	21452078	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.18355775437607E-4	0.01
18	19032039	A	G	18	21452078	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.24822675491688E-4	0.044
18	19032039	A	T	18	21452078	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.4724993583693E-5	0.032
18	19032040	A	C	18	21452079	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0170707553956122	0.264
18	19032040	A	G	18	21452079	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998911081436485	0.922
18	19032040	A	T	18	21452079	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0672546305633982	0.406
18	19032041	T	A	18	21452080	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0103951613806976	0.32
18	19032041	T	C	18	21452080	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.88075533665272E-5	0.036
18	19032041	T	G	18	21452080	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.92458673109862	0.686
18	19032042	A	C	18	21452081	y	y	splicing	GREB1L(NM_001142966:exon14:c.1850-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon14:c.1850-2A>C;ENST00000400483:exon14:c.1850-2A>C;ENST00000424526:exon14:c.1850-2A>C;ENST00000269218:exon13:c.1523-2A>C;ENST00000580732:exon14:c.1850-2A>C;ENST00000581327:exon3:c.332-2A>C)	.	.	0.999988247793601	0.926
18	19032042	A	G	18	21452081	y	y	splicing	GREB1L(NM_001142966:exon14:c.1850-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon14:c.1850-2A>G;ENST00000400483:exon14:c.1850-2A>G;ENST00000424526:exon14:c.1850-2A>G;ENST00000269218:exon13:c.1523-2A>G;ENST00000580732:exon14:c.1850-2A>G;ENST00000581327:exon3:c.332-2A>G)	.	.	0.999988247793601	0.926
18	19032042	A	T	18	21452081	y	y	splicing	GREB1L(NM_001142966:exon14:c.1850-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon14:c.1850-2A>T;ENST00000400483:exon14:c.1850-2A>T;ENST00000424526:exon14:c.1850-2A>T;ENST00000269218:exon13:c.1523-2A>T;ENST00000580732:exon14:c.1850-2A>T;ENST00000581327:exon3:c.332-2A>T)	.	.	0.999988247793601	0.926
18	19032043	G	A	18	21452082	y	y	splicing	GREB1L(NM_001142966:exon14:c.1850-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon14:c.1850-1G>A;ENST00000400483:exon14:c.1850-1G>A;ENST00000424526:exon14:c.1850-1G>A;ENST00000269218:exon13:c.1523-1G>A;ENST00000580732:exon14:c.1850-1G>A;ENST00000581327:exon3:c.332-1G>A)	.	.	0.999985532734767	0.936
18	19032043	G	C	18	21452082	y	y	splicing	GREB1L(NM_001142966:exon14:c.1850-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon14:c.1850-1G>C;ENST00000400483:exon14:c.1850-1G>C;ENST00000424526:exon14:c.1850-1G>C;ENST00000269218:exon13:c.1523-1G>C;ENST00000580732:exon14:c.1850-1G>C;ENST00000581327:exon3:c.332-1G>C)	.	.	0.999985532734767	0.936
18	19032043	G	T	18	21452082	y	y	splicing	GREB1L(NM_001142966:exon14:c.1850-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon14:c.1850-1G>T;ENST00000400483:exon14:c.1850-1G>T;ENST00000424526:exon14:c.1850-1G>T;ENST00000269218:exon13:c.1523-1G>T;ENST00000580732:exon14:c.1850-1G>T;ENST00000581327:exon3:c.332-1G>T)	.	.	0.999985532734767	0.936
18	19032044	G	A	18	21452083	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.G1850A:p.G617D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1850A:p.G617D;ENSG00000141449:ENST00000269218:exon13:c.G1523A:p.G508D;ENSG00000141449:ENST00000431264:exon14:c.G1850A:p.G617D;ENSG00000141449:ENST00000424526:exon14:c.G1850A:p.G617D;ENSG00000141449:ENST00000400483:exon14:c.G1850A:p.G617D;ENSG00000141449:ENST00000581327:exon3:c.G332A:p.G111D;	0.999005233637063	0.968
18	19032044	G	C	18	21452083	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.G1850C:p.G617A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1850C:p.G617A;ENSG00000141449:ENST00000269218:exon13:c.G1523C:p.G508A;ENSG00000141449:ENST00000431264:exon14:c.G1850C:p.G617A;ENSG00000141449:ENST00000424526:exon14:c.G1850C:p.G617A;ENSG00000141449:ENST00000400483:exon14:c.G1850C:p.G617A;ENSG00000141449:ENST00000581327:exon3:c.G332C:p.G111A;	0.999821166546131	0.984
18	19032044	G	T	18	21452083	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.G1850T:p.G617V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1850T:p.G617V;ENSG00000141449:ENST00000269218:exon13:c.G1523T:p.G508V;ENSG00000141449:ENST00000431264:exon14:c.G1850T:p.G617V;ENSG00000141449:ENST00000424526:exon14:c.G1850T:p.G617V;ENSG00000141449:ENST00000400483:exon14:c.G1850T:p.G617V;ENSG00000141449:ENST00000581327:exon3:c.G332T:p.G111V;	0.999901457462767	1.0
18	19032045	C	A	18	21452084	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon14:c.C1851A:p.G617G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.C1851A:p.G617G;ENSG00000141449:ENST00000269218:exon13:c.C1524A:p.G508G;ENSG00000141449:ENST00000431264:exon14:c.C1851A:p.G617G;ENSG00000141449:ENST00000424526:exon14:c.C1851A:p.G617G;ENSG00000141449:ENST00000400483:exon14:c.C1851A:p.G617G;ENSG00000141449:ENST00000581327:exon3:c.C333A:p.G111G;	2.89582036259063E-4	0.058
18	19032045	C	G	18	21452084	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon14:c.C1851G:p.G617G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.C1851G:p.G617G;ENSG00000141449:ENST00000269218:exon13:c.C1524G:p.G508G;ENSG00000141449:ENST00000431264:exon14:c.C1851G:p.G617G;ENSG00000141449:ENST00000424526:exon14:c.C1851G:p.G617G;ENSG00000141449:ENST00000400483:exon14:c.C1851G:p.G617G;ENSG00000141449:ENST00000581327:exon3:c.C333G:p.G111G;	1.23947474179838E-5	0.064
18	19032045	C	T	18	21452084	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon14:c.C1851T:p.G617G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.C1851T:p.G617G;ENSG00000141449:ENST00000269218:exon13:c.C1524T:p.G508G;ENSG00000141449:ENST00000431264:exon14:c.C1851T:p.G617G;ENSG00000141449:ENST00000424526:exon14:c.C1851T:p.G617G;ENSG00000141449:ENST00000400483:exon14:c.C1851T:p.G617G;ENSG00000141449:ENST00000581327:exon3:c.C333T:p.G111G;	7.86865449658932E-6	0.112
18	19032176	T	A	18	21452215	y	n	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.T1982A:p.L661Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.T1982A:p.L661Q;ENSG00000141449:ENST00000269218:exon13:c.T1655A:p.L552Q;ENSG00000141449:ENST00000431264:exon14:c.T1982A:p.L661Q;ENSG00000141449:ENST00000424526:exon14:c.T1982A:p.L661Q;ENSG00000141449:ENST00000400483:exon14:c.T1982A:p.L661Q;ENSG00000141449:ENST00000581327:exon3:c.T464A:p.L155Q;	0.0846508184968834	0.348
18	19032176	T	C	18	21452215	y	n	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.T1982C:p.L661P;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.T1982C:p.L661P;ENSG00000141449:ENST00000269218:exon13:c.T1655C:p.L552P;ENSG00000141449:ENST00000431264:exon14:c.T1982C:p.L661P;ENSG00000141449:ENST00000424526:exon14:c.T1982C:p.L661P;ENSG00000141449:ENST00000400483:exon14:c.T1982C:p.L661P;ENSG00000141449:ENST00000581327:exon3:c.T464C:p.L155P;	0.00114229427109735	0.018
18	19032176	T	G	18	21452215	y	n	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.T1982G:p.L661R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.T1982G:p.L661R;ENSG00000141449:ENST00000269218:exon13:c.T1655G:p.L552R;ENSG00000141449:ENST00000431264:exon14:c.T1982G:p.L661R;ENSG00000141449:ENST00000424526:exon14:c.T1982G:p.L661R;ENSG00000141449:ENST00000400483:exon14:c.T1982G:p.L661R;ENSG00000141449:ENST00000581327:exon3:c.T464G:p.L155R;	0.00188865540740944	0.112
18	19032177	G	A	18	21452216	y	n	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon14:c.G1983A:p.L661L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1983A:p.L661L;ENSG00000141449:ENST00000269218:exon13:c.G1656A:p.L552L;ENSG00000141449:ENST00000431264:exon14:c.G1983A:p.L661L;ENSG00000141449:ENST00000424526:exon14:c.G1983A:p.L661L;ENSG00000141449:ENST00000400483:exon14:c.G1983A:p.L661L;ENSG00000141449:ENST00000581327:exon3:c.G465A:p.L155L;	0.537663709530615	0.314
18	19032177	G	C	18	21452216	y	n	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon14:c.G1983C:p.L661L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1983C:p.L661L;ENSG00000141449:ENST00000269218:exon13:c.G1656C:p.L552L;ENSG00000141449:ENST00000431264:exon14:c.G1983C:p.L661L;ENSG00000141449:ENST00000424526:exon14:c.G1983C:p.L661L;ENSG00000141449:ENST00000400483:exon14:c.G1983C:p.L661L;ENSG00000141449:ENST00000581327:exon3:c.G465C:p.L155L;	0.653951684251559	0.512
18	19032177	G	T	18	21452216	y	n	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon14:c.G1983T:p.L661L;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1983T:p.L661L;ENSG00000141449:ENST00000269218:exon13:c.G1656T:p.L552L;ENSG00000141449:ENST00000431264:exon14:c.G1983T:p.L661L;ENSG00000141449:ENST00000424526:exon14:c.G1983T:p.L661L;ENSG00000141449:ENST00000400483:exon14:c.G1983T:p.L661L;ENSG00000141449:ENST00000581327:exon3:c.G465T:p.L155L;	0.89480663095327	0.614
18	19032178	G	A	18	21452217	y	n	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.G1984A:p.D662N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1984A:p.D662N;ENSG00000141449:ENST00000269218:exon13:c.G1657A:p.D553N;ENSG00000141449:ENST00000431264:exon14:c.G1984A:p.D662N;ENSG00000141449:ENST00000424526:exon14:c.G1984A:p.D662N;ENSG00000141449:ENST00000400483:exon14:c.G1984A:p.D662N;ENSG00000141449:ENST00000581327:exon3:c.G466A:p.G156S;	0.999995709726007	1.0
18	19032178	G	C	18	21452217	y	n	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.G1984C:p.D662H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1984C:p.D662H;ENSG00000141449:ENST00000269218:exon13:c.G1657C:p.D553H;ENSG00000141449:ENST00000431264:exon14:c.G1984C:p.D662H;ENSG00000141449:ENST00000424526:exon14:c.G1984C:p.D662H;ENSG00000141449:ENST00000400483:exon14:c.G1984C:p.D662H;ENSG00000141449:ENST00000581327:exon3:c.G466C:p.G156R;	0.999996623851288	1.0
18	19032178	G	T	18	21452217	y	n	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon14:c.G1984T:p.D662Y;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon14:c.G1984T:p.D662Y;ENSG00000141449:ENST00000269218:exon13:c.G1657T:p.D553Y;ENSG00000141449:ENST00000431264:exon14:c.G1984T:p.D662Y;ENSG00000141449:ENST00000424526:exon14:c.G1984T:p.D662Y;ENSG00000141449:ENST00000400483:exon14:c.G1984T:p.D662Y;ENSG00000141449:ENST00000581327:exon3:c.G466T:p.G156C;	0.999983679094839	1.0
18	19032179	G	A	18	21452218	y	n	splicing	GREB1L(NM_001142966:exon14:c.1984+1G>A)	.	.	exonic;splicing	ENSG00000141449;ENSG00000141449(ENST00000431264:exon14:c.1984+1G>A;ENST00000400483:exon14:c.1984+1G>A;ENST00000424526:exon14:c.1984+1G>A;ENST00000269218:exon13:c.1657+1G>A;ENST00000580732:exon14:c.1984+1G>A)	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.G467A:p.G156D;	0.999989125585301	0.944
18	19032179	G	C	18	21452218	y	n	splicing	GREB1L(NM_001142966:exon14:c.1984+1G>C)	.	.	exonic;splicing	ENSG00000141449;ENSG00000141449(ENST00000431264:exon14:c.1984+1G>C;ENST00000400483:exon14:c.1984+1G>C;ENST00000424526:exon14:c.1984+1G>C;ENST00000269218:exon13:c.1657+1G>C;ENST00000580732:exon14:c.1984+1G>C)	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.G467C:p.G156A;	0.999989125585301	0.944
18	19032179	G	T	18	21452218	y	n	splicing	GREB1L(NM_001142966:exon14:c.1984+1G>T)	.	.	exonic;splicing	ENSG00000141449;ENSG00000141449(ENST00000431264:exon14:c.1984+1G>T;ENST00000400483:exon14:c.1984+1G>T;ENST00000424526:exon14:c.1984+1G>T;ENST00000269218:exon13:c.1657+1G>T;ENST00000580732:exon14:c.1984+1G>T)	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.G467T:p.G156V;	0.999989125585301	0.944
18	19032180	T	A	18	21452219	y	n	splicing	GREB1L(NM_001142966:exon14:c.1984+2T>A)	.	.	exonic;splicing	ENSG00000141449;ENSG00000141449(ENST00000431264:exon14:c.1984+2T>A;ENST00000400483:exon14:c.1984+2T>A;ENST00000424526:exon14:c.1984+2T>A;ENST00000269218:exon13:c.1657+2T>A;ENST00000580732:exon14:c.1984+2T>A)	synonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T468A:p.G156G;	0.999986741007567	0.946
18	19032180	T	C	18	21452219	y	n	splicing	GREB1L(NM_001142966:exon14:c.1984+2T>C)	.	.	exonic;splicing	ENSG00000141449;ENSG00000141449(ENST00000431264:exon14:c.1984+2T>C;ENST00000400483:exon14:c.1984+2T>C;ENST00000424526:exon14:c.1984+2T>C;ENST00000269218:exon13:c.1657+2T>C;ENST00000580732:exon14:c.1984+2T>C)	synonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T468C:p.G156G;	0.999921394480266	0.886
18	19032180	T	G	18	21452219	y	n	splicing	GREB1L(NM_001142966:exon14:c.1984+2T>G)	.	.	exonic;splicing	ENSG00000141449;ENSG00000141449(ENST00000431264:exon14:c.1984+2T>G;ENST00000400483:exon14:c.1984+2T>G;ENST00000424526:exon14:c.1984+2T>G;ENST00000269218:exon13:c.1657+2T>G;ENST00000580732:exon14:c.1984+2T>G)	synonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T468G:p.G156G;	0.999986741007567	0.946
18	19032181	A	C	18	21452220	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.A469C:p.N157H;	0.999920453218201	0.97
18	19032181	A	G	18	21452220	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.A469G:p.N157D;	0.999699002710089	0.928
18	19032181	A	T	18	21452220	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.A469T:p.N157Y;	0.999920453218201	0.966
18	19032182	A	C	18	21452221	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.A470C:p.N157T;	0.999447387895964	0.818
18	19032182	A	G	18	21452221	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.A470G:p.N157S;	0.999748219569646	0.898
18	19032182	A	T	18	21452221	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.A470T:p.N157I;	0.997973220999472	0.846
18	19032183	T	A	18	21452222	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T471A:p.N157K;	3.95070268567988E-4	0.028
18	19032183	T	C	18	21452222	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T471C:p.N157N;	1.58433237782465E-4	0.008
18	19032183	T	G	18	21452222	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T471G:p.N157K;	1.58713546117953E-4	0.05
18	19032184	G	A	18	21452223	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.G472A:p.V158I;	1.31422763615674E-4	0.024
18	19032184	G	C	18	21452223	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.G472C:p.V158L;	0.0011290849638875	0.056
18	19032184	G	T	18	21452223	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.G472T:p.V158F;	1.22350734224702E-5	0.02
18	19032185	T	A	18	21452224	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T473A:p.V158D;	2.76312520605433E-4	0.028
18	19032185	T	C	18	21452224	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T473C:p.V158A;	2.29250067108585E-4	0.018
18	19032185	T	G	18	21452224	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.T473G:p.V158G;	2.29250067108585E-4	0.02
18	19032186	C	A	18	21452225	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.C474A:p.V158V;	2.11233239582199E-4	0.002
18	19032186	C	G	18	21452225	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.C474G:p.V158V;	3.89922883103696E-5	0.0
18	19032186	C	T	18	21452225	y	n	intronic	GREB1L	.	.	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000581327:exon3:c.C474T:p.V158V;	1.97257210717221E-4	0.03
18	19034315	T	A	18	21454354	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.11668142711488	0.502
18	19034315	T	C	18	21454354	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.30370087464968E-4	0.04
18	19034315	T	G	18	21454354	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0646841248788558	0.45
18	19034316	T	A	18	21454355	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.645606373096043	0.824
18	19034316	T	C	18	21454355	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.112820769676815	0.31
18	19034316	T	G	18	21454355	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.759506670487316	0.744
18	19034317	T	A	18	21454356	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0287365994389897	0.436
18	19034317	T	C	18	21454356	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00124684693542338	0.344
18	19034317	T	G	18	21454356	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.107146318927377	0.424
18	19034318	A	C	18	21454357	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.16384512415696E-5	0.0
18	19034318	A	G	18	21454357	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.27590960611984E-5	0.0
18	19034318	A	T	18	21454357	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.65965658795311E-5	0.002
18	19034319	A	C	18	21454358	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.15884529533419E-5	0.0
18	19034319	A	G	18	21454358	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998251755796222	0.99
18	19034319	A	T	18	21454358	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.51983032046199E-5	0.0
18	19034320	A	C	18	21454359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.78029634596174E-4	0.0
18	19034320	A	G	18	21454359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999194201537303	0.934
18	19034320	A	T	18	21454359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.75543818981404E-4	0.0
18	19034321	T	A	18	21454360	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.926646007486597	0.78
18	19034321	T	C	18	21454360	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.12781456232013E-4	0.11
18	19034321	T	G	18	21454360	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999937508595408	0.956
18	19034322	T	A	18	21454361	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996960236100182	0.904
18	19034322	T	C	18	21454361	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.088078611673998	0.208
18	19034322	T	G	18	21454361	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.991263993968381	0.792
18	19034323	T	A	18	21454362	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0114061645450893	0.132
18	19034323	T	C	18	21454362	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0105621718043851	0.078
18	19034323	T	G	18	21454362	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0488419181513733	0.112
18	19034324	T	A	18	21454363	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.530324806086601	0.5
18	19034324	T	C	18	21454363	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.56046937766532E-4	0.01
18	19034324	T	G	18	21454363	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.989696383632429	0.784
18	19034325	A	C	18	21454364	y	y	splicing	GREB1L(NM_001142966:exon15:c.1985-2A>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.1985-2A>C;ENST00000400483:exon15:c.1985-2A>C;ENST00000424526:exon15:c.1985-2A>C;ENST00000269218:exon14:c.1658-2A>C;ENST00000580732:exon15:c.1985-2A>C)	.	.	0.999989917668626	0.926
18	19034325	A	G	18	21454364	y	y	splicing	GREB1L(NM_001142966:exon15:c.1985-2A>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.1985-2A>G;ENST00000400483:exon15:c.1985-2A>G;ENST00000424526:exon15:c.1985-2A>G;ENST00000269218:exon14:c.1658-2A>G;ENST00000580732:exon15:c.1985-2A>G)	.	.	0.999989917668626	0.926
18	19034325	A	T	18	21454364	y	y	splicing	GREB1L(NM_001142966:exon15:c.1985-2A>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.1985-2A>T;ENST00000400483:exon15:c.1985-2A>T;ENST00000424526:exon15:c.1985-2A>T;ENST00000269218:exon14:c.1658-2A>T;ENST00000580732:exon15:c.1985-2A>T)	.	.	0.999989917668626	0.928
18	19034326	G	A	18	21454365	y	y	splicing	GREB1L(NM_001142966:exon15:c.1985-1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.1985-1G>A;ENST00000400483:exon15:c.1985-1G>A;ENST00000424526:exon15:c.1985-1G>A;ENST00000269218:exon14:c.1658-1G>A;ENST00000580732:exon15:c.1985-1G>A)	.	.	0.999981760802075	0.938
18	19034326	G	C	18	21454365	y	y	splicing	GREB1L(NM_001142966:exon15:c.1985-1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.1985-1G>C;ENST00000400483:exon15:c.1985-1G>C;ENST00000424526:exon15:c.1985-1G>C;ENST00000269218:exon14:c.1658-1G>C;ENST00000580732:exon15:c.1985-1G>C)	.	.	0.999981760802075	0.936
18	19034326	G	T	18	21454365	y	y	splicing	GREB1L(NM_001142966:exon15:c.1985-1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.1985-1G>T;ENST00000400483:exon15:c.1985-1G>T;ENST00000424526:exon15:c.1985-1G>T;ENST00000269218:exon14:c.1658-1G>T;ENST00000580732:exon15:c.1985-1G>T)	.	.	0.999981760802075	0.938
18	19034327	A	C	18	21454366	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.A1985C:p.D662A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.A1985C:p.D662A;ENSG00000141449:ENST00000269218:exon14:c.A1658C:p.D553A;ENSG00000141449:ENST00000431264:exon15:c.A1985C:p.D662A;ENSG00000141449:ENST00000424526:exon15:c.A1985C:p.D662A;ENSG00000141449:ENST00000400483:exon15:c.A1985C:p.D662A;	0.00819588725917056	0.114
18	19034327	A	G	18	21454366	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.A1985G:p.D662G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.A1985G:p.D662G;ENSG00000141449:ENST00000269218:exon14:c.A1658G:p.D553G;ENSG00000141449:ENST00000431264:exon15:c.A1985G:p.D662G;ENSG00000141449:ENST00000424526:exon15:c.A1985G:p.D662G;ENSG00000141449:ENST00000400483:exon15:c.A1985G:p.D662G;	2.38223393872462E-4	0.0
18	19034327	A	T	18	21454366	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.A1985T:p.D662V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.A1985T:p.D662V;ENSG00000141449:ENST00000269218:exon14:c.A1658T:p.D553V;ENSG00000141449:ENST00000431264:exon15:c.A1985T:p.D662V;ENSG00000141449:ENST00000424526:exon15:c.A1985T:p.D662V;ENSG00000141449:ENST00000400483:exon15:c.A1985T:p.D662V;	0.0308679121869054	0.178
18	19034328	T	A	18	21454367	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.T1986A:p.D662E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.T1986A:p.D662E;ENSG00000141449:ENST00000269218:exon14:c.T1659A:p.D553E;ENSG00000141449:ENST00000431264:exon15:c.T1986A:p.D662E;ENSG00000141449:ENST00000424526:exon15:c.T1986A:p.D662E;ENSG00000141449:ENST00000400483:exon15:c.T1986A:p.D662E;	0.136798786993335	0.29
18	19034328	T	C	18	21454367	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon15:c.T1986C:p.D662D;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.T1986C:p.D662D;ENSG00000141449:ENST00000269218:exon14:c.T1659C:p.D553D;ENSG00000141449:ENST00000431264:exon15:c.T1986C:p.D662D;ENSG00000141449:ENST00000424526:exon15:c.T1986C:p.D662D;ENSG00000141449:ENST00000400483:exon15:c.T1986C:p.D662D;	0.0291445444501603	0.138
18	19034328	T	G	18	21454367	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.T1986G:p.D662E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.T1986G:p.D662E;ENSG00000141449:ENST00000269218:exon14:c.T1659G:p.D553E;ENSG00000141449:ENST00000431264:exon15:c.T1986G:p.D662E;ENSG00000141449:ENST00000424526:exon15:c.T1986G:p.D662E;ENSG00000141449:ENST00000400483:exon15:c.T1986G:p.D662E;	0.096090412943977	0.24
18	19034522	C	A	18	21454561	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon15:c.C2180A:p.S727X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon15:c.C2180A:p.S727X;ENSG00000141449:ENST00000269218:exon14:c.C1853A:p.S618X;ENSG00000141449:ENST00000431264:exon15:c.C2180A:p.S727X;ENSG00000141449:ENST00000424526:exon15:c.C2180A:p.S727X;ENSG00000141449:ENST00000400483:exon15:c.C2180A:p.S727X;	0.960172121149559	0.848
18	19034522	C	G	18	21454561	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon15:c.C2180G:p.S727X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon15:c.C2180G:p.S727X;ENSG00000141449:ENST00000269218:exon14:c.C1853G:p.S618X;ENSG00000141449:ENST00000431264:exon15:c.C2180G:p.S727X;ENSG00000141449:ENST00000424526:exon15:c.C2180G:p.S727X;ENSG00000141449:ENST00000400483:exon15:c.C2180G:p.S727X;	0.899505194551183	0.678
18	19034522	C	T	18	21454561	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.C2180T:p.S727L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.C2180T:p.S727L;ENSG00000141449:ENST00000269218:exon14:c.C1853T:p.S618L;ENSG00000141449:ENST00000431264:exon15:c.C2180T:p.S727L;ENSG00000141449:ENST00000424526:exon15:c.C2180T:p.S727L;ENSG00000141449:ENST00000400483:exon15:c.C2180T:p.S727L;	0.996777440304101	0.79
18	19034523	A	C	18	21454562	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon15:c.A2181C:p.S727S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.A2181C:p.S727S;ENSG00000141449:ENST00000269218:exon14:c.A1854C:p.S618S;ENSG00000141449:ENST00000431264:exon15:c.A2181C:p.S727S;ENSG00000141449:ENST00000424526:exon15:c.A2181C:p.S727S;ENSG00000141449:ENST00000400483:exon15:c.A2181C:p.S727S;	0.433553165969434	0.614
18	19034523	A	G	18	21454562	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon15:c.A2181G:p.S727S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.A2181G:p.S727S;ENSG00000141449:ENST00000269218:exon14:c.A1854G:p.S618S;ENSG00000141449:ENST00000431264:exon15:c.A2181G:p.S727S;ENSG00000141449:ENST00000424526:exon15:c.A2181G:p.S727S;ENSG00000141449:ENST00000400483:exon15:c.A2181G:p.S727S;	0.292855648989342	0.572
18	19034523	A	T	18	21454562	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon15:c.A2181T:p.S727S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.A2181T:p.S727S;ENSG00000141449:ENST00000269218:exon14:c.A1854T:p.S618S;ENSG00000141449:ENST00000431264:exon15:c.A2181T:p.S727S;ENSG00000141449:ENST00000424526:exon15:c.A2181T:p.S727S;ENSG00000141449:ENST00000400483:exon15:c.A2181T:p.S727S;	0.336293527576092	0.468
18	19034524	G	A	18	21454563	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.G2182A:p.G728S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.G2182A:p.G728S;ENSG00000141449:ENST00000269218:exon14:c.G1855A:p.G619S;ENSG00000141449:ENST00000431264:exon15:c.G2182A:p.G728S;ENSG00000141449:ENST00000424526:exon15:c.G2182A:p.G728S;ENSG00000141449:ENST00000400483:exon15:c.G2182A:p.V728M;	0.999910906340001	0.992
18	19034524	G	C	18	21454563	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.G2182C:p.G728R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.G2182C:p.G728R;ENSG00000141449:ENST00000269218:exon14:c.G1855C:p.G619R;ENSG00000141449:ENST00000431264:exon15:c.G2182C:p.G728R;ENSG00000141449:ENST00000424526:exon15:c.G2182C:p.G728R;ENSG00000141449:ENST00000400483:exon15:c.G2182C:p.V728L;	0.999970992434315	0.954
18	19034524	G	T	18	21454563	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon15:c.G2182T:p.G728C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon15:c.G2182T:p.G728C;ENSG00000141449:ENST00000269218:exon14:c.G1855T:p.G619C;ENSG00000141449:ENST00000431264:exon15:c.G2182T:p.G728C;ENSG00000141449:ENST00000424526:exon15:c.G2182T:p.G728C;ENSG00000141449:ENST00000400483:exon15:c.G2182T:p.V728L;	0.999706937006799	0.982
18	19034525	G	A	18	21454564	y	y	splicing	GREB1L(NM_001142966:exon15:c.2182+1G>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.2182+1G>A;ENST00000400483:exon15:c.2182+1G>A;ENST00000424526:exon15:c.2182+1G>A;ENST00000269218:exon14:c.1855+1G>A;ENST00000580732:exon15:c.2182+1G>A)	.	.	0.999985532734767	0.936
18	19034525	G	C	18	21454564	y	y	splicing	GREB1L(NM_001142966:exon15:c.2182+1G>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.2182+1G>C;ENST00000400483:exon15:c.2182+1G>C;ENST00000424526:exon15:c.2182+1G>C;ENST00000269218:exon14:c.1855+1G>C;ENST00000580732:exon15:c.2182+1G>C)	.	.	0.999985532734767	0.936
18	19034525	G	T	18	21454564	y	y	splicing	GREB1L(NM_001142966:exon15:c.2182+1G>T)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.2182+1G>T;ENST00000400483:exon15:c.2182+1G>T;ENST00000424526:exon15:c.2182+1G>T;ENST00000269218:exon14:c.1855+1G>T;ENST00000580732:exon15:c.2182+1G>T)	.	.	0.999985532734767	0.936
18	19034526	T	A	18	21454565	y	y	splicing	GREB1L(NM_001142966:exon15:c.2182+2T>A)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.2182+2T>A;ENST00000400483:exon15:c.2182+2T>A;ENST00000424526:exon15:c.2182+2T>A;ENST00000269218:exon14:c.1855+2T>A;ENST00000580732:exon15:c.2182+2T>A)	.	.	0.999988247793601	0.928
18	19034526	T	C	18	21454565	y	y	splicing	GREB1L(NM_001142966:exon15:c.2182+2T>C)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.2182+2T>C;ENST00000400483:exon15:c.2182+2T>C;ENST00000424526:exon15:c.2182+2T>C;ENST00000269218:exon14:c.1855+2T>C;ENST00000580732:exon15:c.2182+2T>C)	.	.	0.99340600729494	0.666
18	19034526	T	G	18	21454565	y	y	splicing	GREB1L(NM_001142966:exon15:c.2182+2T>G)	.	.	splicing	ENSG00000141449(ENST00000431264:exon15:c.2182+2T>G;ENST00000400483:exon15:c.2182+2T>G;ENST00000424526:exon15:c.2182+2T>G;ENST00000269218:exon14:c.1855+2T>G;ENST00000580732:exon15:c.2182+2T>G)	.	.	0.999988247793601	0.928
18	19034527	A	C	18	21454566	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.76311820236426	0.616
18	19034527	A	G	18	21454566	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00111490617787975	0.126
18	19034527	A	T	18	21454566	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.911586000274256	0.646
18	19034528	A	C	18	21454567	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0590715971291313	0.228
18	19034528	A	G	18	21454567	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.404370801676805	0.29
18	19034528	A	T	18	21454567	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.159182195043924	0.218
18	19034529	G	A	18	21454568	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99498738550129	0.772
18	19034529	G	C	18	21454568	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.948444352889172	0.664
18	19034529	G	T	18	21454568	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.965039918383133	0.656
18	19034530	A	C	18	21454569	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00224034538116457	0.052
18	19034530	A	G	18	21454569	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.01729034349547E-4	0.068
18	19034530	A	T	18	21454569	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.26233155966305E-5	0.018
18	19034531	G	A	18	21454570	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.3683796645191E-4	0.006
18	19034531	G	C	18	21454570	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.35831543610088E-5	0.0
18	19034531	G	T	18	21454570	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.23309308962258E-5	0.0
18	19034532	T	A	18	21454571	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.88095162532383E-5	0.038
18	19034532	T	C	18	21454571	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.21988287471093E-4	0.048
18	19034532	T	G	18	21454571	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.82661511258662E-4	0.046
18	19048675	T	A	18	21468714	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.73477007530828E-5	0.008
18	19048675	T	C	18	21468714	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.73477007530828E-5	0.006
18	19048675	T	G	18	21468714	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.73477007530828E-5	0.006
18	19048676	T	A	18	21468715	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.86998440239442E-5	0.01
18	19048676	T	C	18	21468715	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.77981388804492E-5	0.008
18	19048676	T	G	18	21468715	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.77981388804492E-5	0.008
18	19048677	C	A	18	21468716	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.80535684038859E-5	0.096
18	19048677	C	G	18	21468716	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.80535684038859E-5	0.064
18	19048677	C	T	18	21468716	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.83702871871436E-5	0.04
18	19048678	C	A	18	21468717	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.18372186627074E-5	0.004
18	19048678	C	G	18	21468717	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.18372186627074E-5	0.0
18	19048678	C	T	18	21468717	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.76699047081367E-5	0.008
18	19048679	T	A	18	21468718	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.014
18	19048679	T	C	18	21468718	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.014
18	19048679	T	G	18	21468718	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.014
18	19048680	G	A	18	21468719	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.85035216531879E-5	0.048
18	19048680	G	C	18	21468719	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43497061537128E-5	0.046
18	19048680	G	T	18	21468719	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.85035216531879E-5	0.054
18	19048681	T	A	18	21468720	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.022
18	19048681	T	C	18	21468720	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.02
18	19048681	T	G	18	21468720	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.02
18	19048682	T	A	18	21468721	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.022
18	19048682	T	C	18	21468721	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.02
18	19048682	T	G	18	21468721	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43601530502877E-5	0.02
18	19048683	C	A	18	21468722	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.68195518907782E-5	0.0
18	19048683	C	G	18	21468722	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.68195518907782E-5	0.0
18	19048683	C	T	18	21468722	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.68195518907782E-5	0.002
18	19048684	C	A	18	21468723	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.85035216531879E-5	0.048
18	19048684	C	G	18	21468723	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.43497061537128E-5	0.046
18	19048684	C	T	18	21468723	n	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.85035216531879E-5	0.048
18	19048685	A	C	18	21468724	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000431264:exon16:c.2183-2A>C)	.	.	3.13186352914322E-5	0.008
18	19048685	A	G	18	21468724	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000431264:exon16:c.2183-2A>G)	.	.	3.13186352914322E-5	0.008
18	19048685	A	T	18	21468724	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000431264:exon16:c.2183-2A>T)	.	.	3.13186352914322E-5	0.008
18	19048686	G	A	18	21468725	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000431264:exon16:c.2183-1G>A)	.	.	8.79037408995938E-5	0.024
18	19048686	G	C	18	21468725	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000431264:exon16:c.2183-1G>C)	.	.	1.0608887896012E-4	0.024
18	19048686	G	T	18	21468725	n	y	intronic	GREB1L	.	.	splicing	ENSG00000141449(ENST00000431264:exon16:c.2183-1G>T)	.	.	1.0608887896012E-4	0.024
18	19048687	G	A	18	21468726	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000431264:exon16:c.G2183A:p.G728D;	3.22238396552994E-4	0.016
18	19048687	G	C	18	21468726	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000431264:exon16:c.G2183C:p.G728A;	3.55188917787564E-4	0.036
18	19048687	G	T	18	21468726	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000431264:exon16:c.G2183T:p.G728V;	2.81605799409943E-4	0.022
18	19048688	T	A	18	21468727	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000431264:exon16:c.T2184A:p.G728G;	3.00286289604843E-5	0.0
18	19048688	T	C	18	21468727	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000431264:exon16:c.T2184C:p.G728G;	3.00286289604843E-5	0.0
18	19048688	T	G	18	21468727	n	y	intronic	GREB1L	.	.	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000431264:exon16:c.T2184G:p.G728G;	3.00286289604843E-5	0.0
18	19052980	T	A	18	21473019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0202689881333375	0.136
18	19052980	T	C	18	21473019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00126883867415537	0.022
18	19052980	T	G	18	21473019	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00926106302707485	0.092
18	19052981	C	A	18	21473020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0018654805667748	0.078
18	19052981	C	G	18	21473020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.91962338368568E-4	0.028
18	19052981	C	T	18	21473020	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.70101156496595E-4	0.076
18	19052982	T	A	18	21473021	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00365068461813138	0.106
18	19052982	T	C	18	21473021	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.9514548347771E-4	0.028
18	19052982	T	G	18	21473021	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00184744276582906	0.12
18	19052983	T	A	18	21473022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00103766271243352	0.152
18	19052983	T	C	18	21473022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.426209502016E-5	0.006
18	19052983	T	G	18	21473022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.38141237957861E-4	0.07
18	19052984	C	A	18	21473023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.23582434741774E-4	0.034
18	19052984	C	G	18	21473023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.03893669547516E-4	0.022
18	19052984	C	T	18	21473023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.95366222255966E-5	0.008
18	19052985	T	A	18	21473024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.51797646549766E-4	0.056
18	19052985	T	C	18	21473024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.9062293159265E-5	0.0
18	19052985	T	G	18	21473024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.97795984306737E-4	0.04
18	19052986	T	A	18	21473025	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999066690229752	0.96
18	19052986	T	C	18	21473025	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.45824184152347E-4	0.022
18	19052986	T	G	18	21473025	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0015324731977483	0.1
18	19052987	G	A	18	21473026	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.939673289195125	0.576
18	19052987	G	C	18	21473026	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.66765238155459E-5	0.002
18	19052987	G	T	18	21473026	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.27170119989712E-5	0.002
18	19052988	G	A	18	21473027	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.09288005353108E-5	0.0
18	19052988	G	C	18	21473027	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.24532100978735E-5	0.004
18	19052988	G	T	18	21473027	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.71201895535073E-5	0.0
18	19052989	C	A	18	21473028	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.972239422586497	0.79
18	19052989	C	G	18	21473028	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999898851386911	0.956
18	19052989	C	T	18	21473028	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.120975824512762	0.24
18	19052990	A	C	18	21473029	y	y	splicing	GREB1L(NM_001142966:exon16:c.2183-2A>C)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2183-2A>C;ENST00000269218:exon15:c.1856-2A>C;ENST00000580732:exon16:c.2183-2A>C)	.	.	0.999988247793601	0.93
18	19052990	A	G	18	21473029	y	y	splicing	GREB1L(NM_001142966:exon16:c.2183-2A>G)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2183-2A>G;ENST00000269218:exon15:c.1856-2A>G;ENST00000580732:exon16:c.2183-2A>G)	.	.	0.999988247793601	0.93
18	19052990	A	T	18	21473029	y	y	splicing	GREB1L(NM_001142966:exon16:c.2183-2A>T)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2183-2A>T;ENST00000269218:exon15:c.1856-2A>T;ENST00000580732:exon16:c.2183-2A>T)	.	.	0.999988247793601	0.93
18	19052991	G	A	18	21473030	y	y	splicing	GREB1L(NM_001142966:exon16:c.2183-1G>A)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2183-1G>A;ENST00000269218:exon15:c.1856-1G>A;ENST00000580732:exon16:c.2183-1G>A)	.	.	0.999990361384395	0.938
18	19052991	G	C	18	21473030	y	y	splicing	GREB1L(NM_001142966:exon16:c.2183-1G>C)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2183-1G>C;ENST00000269218:exon15:c.1856-1G>C;ENST00000580732:exon16:c.2183-1G>C)	.	.	0.999990361384395	0.938
18	19052991	G	T	18	21473030	y	y	splicing	GREB1L(NM_001142966:exon16:c.2183-1G>T)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2183-1G>T;ENST00000269218:exon15:c.1856-1G>T;ENST00000580732:exon16:c.2183-1G>T)	.	.	0.999990361384395	0.938
18	19052992	G	A	18	21473031	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.G2183A:p.G728D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2183A:p.G728D;ENSG00000141449:ENST00000269218:exon15:c.G1856A:p.G619D;ENSG00000141449:ENST00000424526:exon16:c.G2183A:p.G728D;	0.998271212303259	0.82
18	19052992	G	C	18	21473031	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.G2183C:p.G728A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2183C:p.G728A;ENSG00000141449:ENST00000269218:exon15:c.G1856C:p.G619A;ENSG00000141449:ENST00000424526:exon16:c.G2183C:p.G728A;	0.999395122034821	0.914
18	19052992	G	T	18	21473031	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.G2183T:p.G728V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2183T:p.G728V;ENSG00000141449:ENST00000269218:exon15:c.G1856T:p.G619V;ENSG00000141449:ENST00000424526:exon16:c.G2183T:p.G728V;	0.999158952656676	0.908
18	19052993	T	A	18	21473032	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon16:c.T2184A:p.G728G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.T2184A:p.G728G;ENSG00000141449:ENST00000269218:exon15:c.T1857A:p.G619G;ENSG00000141449:ENST00000424526:exon16:c.T2184A:p.G728G;	0.00406576425374483	0.06
18	19052993	T	C	18	21473032	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon16:c.T2184C:p.G728G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.T2184C:p.G728G;ENSG00000141449:ENST00000269218:exon15:c.T1857C:p.G619G;ENSG00000141449:ENST00000424526:exon16:c.T2184C:p.G728G;	0.00240688127268026	0.152
18	19052993	T	G	18	21473032	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon16:c.T2184G:p.G728G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.T2184G:p.G728G;ENSG00000141449:ENST00000269218:exon15:c.T1857G:p.G619G;ENSG00000141449:ENST00000424526:exon16:c.T2184G:p.G728G;	0.00296197361249518	0.056
18	19053170	G	A	18	21473209	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon16:c.G2361A:p.T787T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2361A:p.T787T;ENSG00000141449:ENST00000269218:exon15:c.G2034A:p.T678T;ENSG00000141449:ENST00000424526:exon16:c.G2361A:p.T787T;	4.49750375340127E-5	0.002
18	19053170	G	C	18	21473209	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon16:c.G2361C:p.T787T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2361C:p.T787T;ENSG00000141449:ENST00000269218:exon15:c.G2034C:p.T678T;ENSG00000141449:ENST00000424526:exon16:c.G2361C:p.T787T;	6.12290691176684E-5	0.002
18	19053170	G	T	18	21473209	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon16:c.G2361T:p.T787T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2361T:p.T787T;ENSG00000141449:ENST00000269218:exon15:c.G2034T:p.T678T;ENSG00000141449:ENST00000424526:exon16:c.G2361T:p.T787T;	0.0141785704366728	0.122
18	19053171	A	C	18	21473210	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.A2362C:p.S788R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.A2362C:p.S788R;ENSG00000141449:ENST00000269218:exon15:c.A2035C:p.S679R;ENSG00000141449:ENST00000424526:exon16:c.A2362C:p.S788R;	0.999843579439266	0.996
18	19053171	A	G	18	21473210	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.A2362G:p.S788G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.A2362G:p.S788G;ENSG00000141449:ENST00000269218:exon15:c.A2035G:p.S679G;ENSG00000141449:ENST00000424526:exon16:c.A2362G:p.S788G;	0.999964931031896	0.988
18	19053171	A	T	18	21473210	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.A2362T:p.S788C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.A2362T:p.S788C;ENSG00000141449:ENST00000269218:exon15:c.A2035T:p.S679C;ENSG00000141449:ENST00000424526:exon16:c.A2362T:p.S788C;	0.999960372672324	0.992
18	19053172	G	A	18	21473211	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.G2363A:p.S788N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2363A:p.S788N;ENSG00000141449:ENST00000269218:exon15:c.G2036A:p.S679N;ENSG00000141449:ENST00000424526:exon16:c.G2363A:p.S788N;	0.999997364018108	1.0
18	19053172	G	C	18	21473211	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.G2363C:p.S788T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2363C:p.S788T;ENSG00000141449:ENST00000269218:exon15:c.G2036C:p.S679T;ENSG00000141449:ENST00000424526:exon16:c.G2363C:p.S788T;	0.999997643939171	1.0
18	19053172	G	T	18	21473211	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon16:c.G2363T:p.S788I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon16:c.G2363T:p.S788I;ENSG00000141449:ENST00000269218:exon15:c.G2036T:p.S679I;ENSG00000141449:ENST00000424526:exon16:c.G2363T:p.S788I;	0.999994513554261	1.0
18	19053173	G	A	18	21473212	y	y	splicing	GREB1L(NM_001142966:exon16:c.2363+1G>A)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2363+1G>A;ENST00000269218:exon15:c.2036+1G>A;ENST00000580732:exon16:c.2363+1G>A)	.	.	0.999989125585301	0.944
18	19053173	G	C	18	21473212	y	y	splicing	GREB1L(NM_001142966:exon16:c.2363+1G>C)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2363+1G>C;ENST00000269218:exon15:c.2036+1G>C;ENST00000580732:exon16:c.2363+1G>C)	.	.	0.999989125585301	0.944
18	19053173	G	T	18	21473212	y	y	splicing	GREB1L(NM_001142966:exon16:c.2363+1G>T)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2363+1G>T;ENST00000269218:exon15:c.2036+1G>T;ENST00000580732:exon16:c.2363+1G>T)	.	.	0.999989125585301	0.944
18	19053174	T	A	18	21473213	y	y	splicing	GREB1L(NM_001142966:exon16:c.2363+2T>A)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2363+2T>A;ENST00000269218:exon15:c.2036+2T>A;ENST00000580732:exon16:c.2363+2T>A)	.	.	0.999986741007567	0.946
18	19053174	T	C	18	21473213	y	y	splicing	GREB1L(NM_001142966:exon16:c.2363+2T>C)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2363+2T>C;ENST00000269218:exon15:c.2036+2T>C;ENST00000580732:exon16:c.2363+2T>C)	.	.	0.999908423438336	0.882
18	19053174	T	G	18	21473213	y	y	splicing	GREB1L(NM_001142966:exon16:c.2363+2T>G)	.	.	splicing	ENSG00000141449(ENST00000424526:exon16:c.2363+2T>G;ENST00000269218:exon15:c.2036+2T>G;ENST00000580732:exon16:c.2363+2T>G)	.	.	0.999986741007567	0.946
18	19053175	G	A	18	21473214	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00314341094523112	0.11
18	19053175	G	C	18	21473214	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999324665121027	0.874
18	19053175	G	T	18	21473214	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999528067443971	0.91
18	19053176	A	C	18	21473215	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997593277961921	0.934
18	19053176	A	G	18	21473215	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999788122795295	0.996
18	19053176	A	T	18	21473215	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99964120289871	0.956
18	19053177	T	A	18	21473216	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00176105844999137	0.018
18	19053177	T	C	18	21473216	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.44155013885365E-4	0.042
18	19053177	T	G	18	21473216	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.59965211596039E-4	0.042
18	19053178	T	A	18	21473217	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.975290151728408	0.826
18	19053178	T	C	18	21473217	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.990624352749805	0.86
18	19053178	T	G	18	21473217	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.458168537199967	0.536
18	19053179	G	A	18	21473218	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0528838317462863	0.27
18	19053179	G	C	18	21473218	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0444199363401417	0.158
18	19053179	G	T	18	21473218	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.320234703667398	0.3
18	19053180	G	A	18	21473219	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.48968437620307E-5	0.012
18	19053180	G	C	18	21473219	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.42399885462361E-5	0.014
18	19053180	G	T	18	21473219	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.42399885462361E-5	0.028
18	19057113	A	C	18	21477152	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.62231821467575E-5	0.0
18	19057113	A	G	18	21477152	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.884357670914244	0.902
18	19057113	A	T	18	21477152	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.875108102029E-5	0.0
18	19057114	T	A	18	21477153	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.696476191348032	0.57
18	19057114	T	C	18	21477153	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.210193124820215	0.26
18	19057114	T	G	18	21477153	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999840316285893	0.962
18	19057115	T	A	18	21477154	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00305251337219199	0.12
18	19057115	T	C	18	21477154	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.57973631289673E-5	0.016
18	19057115	T	G	18	21477154	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00510757420425212	0.152
18	19057116	T	A	18	21477155	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.246734332658569	0.446
18	19057116	T	C	18	21477155	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0063903537500187	0.14
18	19057116	T	G	18	21477155	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.38738842659792	0.43
18	19057117	T	A	18	21477156	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00834462442170258	0.218
18	19057117	T	C	18	21477156	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.7884278686913E-5	0.018
18	19057117	T	G	18	21477156	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.47816510482931E-4	0.124
18	19057118	T	A	18	21477157	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.713456357136994	0.492
18	19057118	T	C	18	21477157	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.32607523069287E-5	0.044
18	19057118	T	G	18	21477157	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.060425903894731	0.27
18	19057119	C	A	18	21477158	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.04945976659268E-4	0.188
18	19057119	C	G	18	21477158	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.15132555641336E-4	0.198
18	19057119	C	T	18	21477158	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.06806024444865E-5	0.0
18	19057120	T	A	18	21477159	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0917792969926455	0.298
18	19057120	T	C	18	21477159	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.00121202143805E-4	0.064
18	19057120	T	G	18	21477159	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0389895308626872	0.268
18	19057121	A	C	18	21477160	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.2686990187862E-5	0.0
18	19057121	A	G	18	21477160	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.07604147503456E-4	0.038
18	19057121	A	T	18	21477160	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.73558864357176E-4	0.036
18	19057122	C	A	18	21477161	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998067140031517	0.866
18	19057122	C	G	18	21477161	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999707331083242	0.878
18	19057122	C	T	18	21477161	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0728511813648564	0.34
18	19057123	A	C	18	21477162	y	y	splicing	GREB1L(NM_001142966:exon17:c.2364-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2183-2A>C;ENST00000424526:exon17:c.2364-2A>C;ENST00000269218:exon16:c.2037-2A>C;ENST00000580732:exon17:c.2364-2A>C)	.	.	0.999988247793601	0.94
18	19057123	A	G	18	21477162	y	y	splicing	GREB1L(NM_001142966:exon17:c.2364-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2183-2A>G;ENST00000424526:exon17:c.2364-2A>G;ENST00000269218:exon16:c.2037-2A>G;ENST00000580732:exon17:c.2364-2A>G)	.	.	0.999988247793601	0.94
18	19057123	A	T	18	21477162	y	y	splicing	GREB1L(NM_001142966:exon17:c.2364-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2183-2A>T;ENST00000424526:exon17:c.2364-2A>T;ENST00000269218:exon16:c.2037-2A>T;ENST00000580732:exon17:c.2364-2A>T)	.	.	0.999988247793601	0.94
18	19057124	G	A	18	21477163	y	y	splicing	GREB1L(NM_001142966:exon17:c.2364-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2183-1G>A;ENST00000424526:exon17:c.2364-1G>A;ENST00000269218:exon16:c.2037-1G>A;ENST00000580732:exon17:c.2364-1G>A)	.	.	0.999986675681007	0.938
18	19057124	G	C	18	21477163	y	y	splicing	GREB1L(NM_001142966:exon17:c.2364-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2183-1G>C;ENST00000424526:exon17:c.2364-1G>C;ENST00000269218:exon16:c.2037-1G>C;ENST00000580732:exon17:c.2364-1G>C)	.	.	0.999986675681007	0.938
18	19057124	G	T	18	21477163	y	y	splicing	GREB1L(NM_001142966:exon17:c.2364-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2183-1G>T;ENST00000424526:exon17:c.2364-1G>T;ENST00000269218:exon16:c.2037-1G>T;ENST00000580732:exon17:c.2364-1G>T)	.	.	0.999986675681007	0.938
18	19057125	T	A	18	21477164	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.T2364A:p.S788R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.T2364A:p.S788R;ENSG00000141449:ENST00000269218:exon16:c.T2037A:p.S679R;ENSG00000141449:ENST00000424526:exon17:c.T2364A:p.S788R;ENSG00000141449:ENST00000400483:exon16:c.T2183A:p.V728E;	2.56576627005099E-5	0.0
18	19057125	T	C	18	21477164	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon17:c.T2364C:p.S788S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000400483:exon16:c.T2183C:p.V728A;	5.1965951761129E-5	0.0
18	19057125	T	G	18	21477164	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.T2364G:p.S788R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.T2364G:p.S788R;ENSG00000141449:ENST00000269218:exon16:c.T2037G:p.S679R;ENSG00000141449:ENST00000424526:exon17:c.T2364G:p.S788R;ENSG00000141449:ENST00000400483:exon16:c.T2183G:p.V728G;	7.3773950635672E-5	0.056
18	19057126	G	A	18	21477165	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2365A:p.V789I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2365A:p.V789I;ENSG00000141449:ENST00000269218:exon16:c.G2038A:p.V680I;ENSG00000141449:ENST00000424526:exon17:c.G2365A:p.V789I;	0.775800424112772	0.414
18	19057126	G	C	18	21477165	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2365C:p.V789L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2365C:p.V789L;ENSG00000141449:ENST00000269218:exon16:c.G2038C:p.V680L;ENSG00000141449:ENST00000424526:exon17:c.G2365C:p.V789L;	0.0492626217108292	0.2
18	19057126	G	T	18	21477165	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2365T:p.V789F;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2365T:p.V789F;ENSG00000141449:ENST00000269218:exon16:c.G2038T:p.V680F;ENSG00000141449:ENST00000424526:exon17:c.G2365T:p.V789F;	0.317116885452726	0.444
18	19057315	G	A	18	21477354	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2554A:p.G852R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2554A:p.G852R;ENSG00000141449:ENST00000269218:exon16:c.G2227A:p.G743R;ENSG00000141449:ENST00000424526:exon17:c.G2554A:p.G852R;	1.61871538780816E-5	0.066
18	19057315	G	C	18	21477354	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2554C:p.G852R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2554C:p.G852R;ENSG00000141449:ENST00000269218:exon16:c.G2227C:p.G743R;ENSG00000141449:ENST00000424526:exon17:c.G2554C:p.G852R;	3.99942019655346E-5	0.08
18	19057315	G	T	18	21477354	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2554T:p.G852W;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2554T:p.G852W;ENSG00000141449:ENST00000269218:exon16:c.G2227T:p.G743W;ENSG00000141449:ENST00000424526:exon17:c.G2554T:p.G852W;	7.86238179645629E-5	0.07
18	19057316	G	A	18	21477355	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2555A:p.G852E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2555A:p.G852E;ENSG00000141449:ENST00000269218:exon16:c.G2228A:p.G743E;ENSG00000141449:ENST00000424526:exon17:c.G2555A:p.G852E;	5.72633863208378E-5	0.052
18	19057316	G	C	18	21477355	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2555C:p.G852A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2555C:p.G852A;ENSG00000141449:ENST00000269218:exon16:c.G2228C:p.G743A;ENSG00000141449:ENST00000424526:exon17:c.G2555C:p.G852A;	1.37429344476991E-4	0.016
18	19057316	G	T	18	21477355	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon17:c.G2555T:p.G852V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2555T:p.G852V;ENSG00000141449:ENST00000269218:exon16:c.G2228T:p.G743V;ENSG00000141449:ENST00000424526:exon17:c.G2555T:p.G852V;	1.41869700139887E-4	0.004
18	19057317	G	A	18	21477356	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon17:c.G2556A:p.G852G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2556A:p.G852G;ENSG00000141449:ENST00000269218:exon16:c.G2229A:p.G743G;ENSG00000141449:ENST00000424526:exon17:c.G2556A:p.G852G;	0.914004937679487	0.612
18	19057317	G	C	18	21477356	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon17:c.G2556C:p.G852G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2556C:p.G852G;ENSG00000141449:ENST00000269218:exon16:c.G2229C:p.G743G;ENSG00000141449:ENST00000424526:exon17:c.G2556C:p.G852G;	0.991022110484067	0.702
18	19057317	G	T	18	21477356	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon17:c.G2556T:p.G852G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon17:c.G2556T:p.G852G;ENSG00000141449:ENST00000269218:exon16:c.G2229T:p.G743G;ENSG00000141449:ENST00000424526:exon17:c.G2556T:p.G852G;	0.990159263581735	0.656
18	19057318	G	A	18	21477357	y	y	splicing	GREB1L(NM_001142966:exon17:c.2556+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2375+1G>A;ENST00000424526:exon17:c.2556+1G>A;ENST00000269218:exon16:c.2229+1G>A;ENST00000580732:exon17:c.2556+1G>A)	.	.	0.999986675681007	0.932
18	19057318	G	C	18	21477357	y	y	splicing	GREB1L(NM_001142966:exon17:c.2556+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2375+1G>C;ENST00000424526:exon17:c.2556+1G>C;ENST00000269218:exon16:c.2229+1G>C;ENST00000580732:exon17:c.2556+1G>C)	.	.	0.999986675681007	0.932
18	19057318	G	T	18	21477357	y	y	splicing	GREB1L(NM_001142966:exon17:c.2556+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2375+1G>T;ENST00000424526:exon17:c.2556+1G>T;ENST00000269218:exon16:c.2229+1G>T;ENST00000580732:exon17:c.2556+1G>T)	.	.	0.999986675681007	0.932
18	19057319	T	A	18	21477358	y	y	splicing	GREB1L(NM_001142966:exon17:c.2556+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2375+2T>A;ENST00000424526:exon17:c.2556+2T>A;ENST00000269218:exon16:c.2229+2T>A;ENST00000580732:exon17:c.2556+2T>A)	.	.	0.999988247793601	0.926
18	19057319	T	C	18	21477358	y	y	splicing	GREB1L(NM_001142966:exon17:c.2556+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2375+2T>C;ENST00000424526:exon17:c.2556+2T>C;ENST00000269218:exon16:c.2229+2T>C;ENST00000580732:exon17:c.2556+2T>C)	.	.	0.999943260809542	0.868
18	19057319	T	G	18	21477358	y	y	splicing	GREB1L(NM_001142966:exon17:c.2556+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon16:c.2375+2T>G;ENST00000424526:exon17:c.2556+2T>G;ENST00000269218:exon16:c.2229+2T>G;ENST00000580732:exon17:c.2556+2T>G)	.	.	0.999988247793601	0.926
18	19057320	G	A	18	21477359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.78573507011213E-5	0.012
18	19057320	G	C	18	21477359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.898295337818477	0.506
18	19057320	G	T	18	21477359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.918216222118088	0.458
18	19057321	A	C	18	21477360	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.994642947435923	0.796
18	19057321	A	G	18	21477360	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.994772693369811	0.762
18	19057321	A	T	18	21477360	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.9984235391218	0.896
18	19057322	G	A	18	21477361	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999940321187339	0.952
18	19057322	G	C	18	21477361	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999959850969766	0.952
18	19057322	G	T	18	21477361	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999974021022518	0.98
18	19057323	T	A	18	21477362	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.986206442750552	0.72
18	19057323	T	C	18	21477362	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.833430347089693	0.51
18	19057323	T	G	18	21477362	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.642878691835276	0.522
18	19057324	C	A	18	21477363	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.50422508170598E-4	0.008
18	19057324	C	G	18	21477363	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.62851049361171E-4	0.002
18	19057324	C	T	18	21477363	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00102634315671011	0.01
18	19057325	T	A	18	21477364	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.13112516206009E-4	0.002
18	19057325	T	C	18	21477364	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.27188226390861E-4	0.0
18	19057325	T	G	18	21477364	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.50241468582877E-4	0.0
18	19065569	A	C	18	21485608	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.49811543647207E-5	0.012
18	19065569	A	G	18	21485608	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.90554063125342E-5	0.012
18	19065569	A	T	18	21485608	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.61650103411439E-5	0.002
18	19065570	T	A	18	21485609	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.367120007624334	0.612
18	19065570	T	C	18	21485609	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0315799463836429	0.192
18	19065570	T	G	18	21485609	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999763804623318	0.964
18	19065571	T	A	18	21485610	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.909109266192176	0.78
18	19065571	T	C	18	21485610	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00245837331152283	0.138
18	19065571	T	G	18	21485610	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.127770871464197	0.644
18	19065572	T	A	18	21485611	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998849631992609	0.926
18	19065572	T	C	18	21485611	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.341868268764454	0.336
18	19065572	T	G	18	21485611	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997384087806988	0.902
18	19065573	T	A	18	21485612	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999903201460715	0.974
18	19065573	T	C	18	21485612	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00144444417193999	0.048
18	19065573	T	G	18	21485612	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.781156838054475	0.57
18	19065574	G	A	18	21485613	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00437354943483441	0.068
18	19065574	G	C	18	21485613	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.00222266952385E-5	0.088
18	19065574	G	T	18	21485613	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.4724993583693E-5	0.074
18	19065575	A	C	18	21485614	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.52991368310215E-4	0.016
18	19065575	A	G	18	21485614	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00567592268384775	0.038
18	19065575	A	T	18	21485614	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.03547438679696E-4	0.018
18	19065576	A	C	18	21485615	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.16202085508372E-5	0.022
18	19065576	A	G	18	21485615	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.98486293887868	0.928
18	19065576	A	T	18	21485615	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.59495359002329E-5	0.008
18	19065577	C	A	18	21485616	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.21655627372582E-5	0.016
18	19065577	C	G	18	21485616	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.921293248960224	0.716
18	19065577	C	T	18	21485616	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.3394357771777E-5	0.008
18	19065578	C	A	18	21485617	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.980849713797191	0.854
18	19065578	C	G	18	21485617	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999881231676942	0.856
18	19065578	C	T	18	21485617	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0262910188621452	0.248
18	19065579	A	C	18	21485618	y	y	splicing	GREB1L(NM_001142966:exon18:c.2557-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2376-2A>C;ENST00000424526:exon18:c.2557-2A>C;ENST00000269218:exon17:c.2230-2A>C;ENST00000580732:exon18:c.2557-2A>C)	.	.	0.999988624979899	0.934
18	19065579	A	G	18	21485618	y	y	splicing	GREB1L(NM_001142966:exon18:c.2557-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2376-2A>G;ENST00000424526:exon18:c.2557-2A>G;ENST00000269218:exon17:c.2230-2A>G;ENST00000580732:exon18:c.2557-2A>G)	.	.	0.999988624979899	0.934
18	19065579	A	T	18	21485618	y	y	splicing	GREB1L(NM_001142966:exon18:c.2557-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2376-2A>T;ENST00000424526:exon18:c.2557-2A>T;ENST00000269218:exon17:c.2230-2A>T;ENST00000580732:exon18:c.2557-2A>T)	.	.	0.999988624979899	0.934
18	19065580	G	A	18	21485619	y	y	splicing	GREB1L(NM_001142966:exon18:c.2557-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2376-1G>A;ENST00000424526:exon18:c.2557-1G>A;ENST00000269218:exon17:c.2230-1G>A;ENST00000580732:exon18:c.2557-1G>A)	.	.	0.999984967332678	0.934
18	19065580	G	C	18	21485619	y	y	splicing	GREB1L(NM_001142966:exon18:c.2557-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2376-1G>C;ENST00000424526:exon18:c.2557-1G>C;ENST00000269218:exon17:c.2230-1G>C;ENST00000580732:exon18:c.2557-1G>C)	.	.	0.999984967332678	0.934
18	19065580	G	T	18	21485619	y	y	splicing	GREB1L(NM_001142966:exon18:c.2557-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2376-1G>T;ENST00000424526:exon18:c.2557-1G>T;ENST00000269218:exon17:c.2230-1G>T;ENST00000580732:exon18:c.2557-1G>T)	.	.	0.999984967332678	0.934
18	19065581	G	A	18	21485620	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.G2557A:p.E853K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.G2557A:p.E853K;ENSG00000141449:ENST00000269218:exon17:c.G2230A:p.E744K;ENSG00000141449:ENST00000424526:exon18:c.G2557A:p.E853K;	0.969842935406982	0.736
18	19065581	G	C	18	21485620	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.G2557C:p.E853Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.G2557C:p.E853Q;ENSG00000141449:ENST00000269218:exon17:c.G2230C:p.E744Q;ENSG00000141449:ENST00000424526:exon18:c.G2557C:p.E853Q;	0.996761869015457	0.952
18	19065581	G	T	18	21485620	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon18:c.G2557T:p.E853X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon18:c.G2557T:p.E853X;ENSG00000141449:ENST00000269218:exon17:c.G2230T:p.E744X;ENSG00000141449:ENST00000424526:exon18:c.G2557T:p.E853X;	0.999941107990059	0.996
18	19065582	A	C	18	21485621	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.A2558C:p.E853A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.A2558C:p.E853A;ENSG00000141449:ENST00000269218:exon17:c.A2231C:p.E744A;ENSG00000141449:ENST00000424526:exon18:c.A2558C:p.E853A;	0.0021408354594899	0.082
18	19065582	A	G	18	21485621	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.A2558G:p.E853G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.A2558G:p.E853G;ENSG00000141449:ENST00000269218:exon17:c.A2231G:p.E744G;ENSG00000141449:ENST00000424526:exon18:c.A2558G:p.E853G;	0.0630743173426998	0.2
18	19065582	A	T	18	21485621	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.A2558T:p.E853V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.A2558T:p.E853V;ENSG00000141449:ENST00000269218:exon17:c.A2231T:p.E744V;ENSG00000141449:ENST00000424526:exon18:c.A2558T:p.E853V;	0.607626975096133	0.596
18	19065712	G	A	18	21485751	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon18:c.G2688A:p.E896E;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.G2688A:p.E896E;ENSG00000141449:ENST00000269218:exon17:c.G2361A:p.E787E;ENSG00000141449:ENST00000424526:exon18:c.G2688A:p.E896E;	1.26605616616927E-4	0.0
18	19065712	G	C	18	21485751	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.G2688C:p.E896D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.G2688C:p.E896D;ENSG00000141449:ENST00000269218:exon17:c.G2361C:p.E787D;ENSG00000141449:ENST00000424526:exon18:c.G2688C:p.E896D;	0.00861765321539141	0.272
18	19065712	G	T	18	21485751	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.G2688T:p.E896D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.G2688T:p.E896D;ENSG00000141449:ENST00000269218:exon17:c.G2361T:p.E787D;ENSG00000141449:ENST00000424526:exon18:c.G2688T:p.E896D;	0.161779433285248	0.26
18	19065713	A	C	18	21485752	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon18:c.A2689C:p.R897R;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.A2689C:p.R897R;ENSG00000141449:ENST00000269218:exon17:c.A2362C:p.R788R;ENSG00000141449:ENST00000424526:exon18:c.A2689C:p.R897R;	0.482574646872798	0.582
18	19065713	A	G	18	21485752	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.A2689G:p.R897G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.A2689G:p.R897G;ENSG00000141449:ENST00000269218:exon17:c.A2362G:p.R788G;ENSG00000141449:ENST00000424526:exon18:c.A2689G:p.R897G;	0.997949163329766	0.836
18	19065713	A	T	18	21485752	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.A2689T:p.R897W;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.A2689T:p.R897W;ENSG00000141449:ENST00000269218:exon17:c.A2362T:p.R788W;ENSG00000141449:ENST00000424526:exon18:c.A2689T:p.R897W;	0.997981715224433	0.868
18	19065714	G	A	18	21485753	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.G2690A:p.R897K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.G2690A:p.R897K;ENSG00000141449:ENST00000269218:exon17:c.G2363A:p.R788K;ENSG00000141449:ENST00000424526:exon18:c.G2690A:p.R897K;	0.999982795819153	1.0
18	19065714	G	C	18	21485753	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.G2690C:p.R897T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.G2690C:p.R897T;ENSG00000141449:ENST00000269218:exon17:c.G2363C:p.R788T;ENSG00000141449:ENST00000424526:exon18:c.G2690C:p.R897T;	0.999998312535482	0.994
18	19065714	G	T	18	21485753	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon18:c.G2690T:p.R897M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon18:c.G2690T:p.R897M;ENSG00000141449:ENST00000269218:exon17:c.G2363T:p.R788M;ENSG00000141449:ENST00000424526:exon18:c.G2690T:p.R897M;	0.99998548085345	0.998
18	19065715	G	A	18	21485754	y	y	splicing	GREB1L(NM_001142966:exon18:c.2690+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2509+1G>A;ENST00000424526:exon18:c.2690+1G>A;ENST00000269218:exon17:c.2363+1G>A;ENST00000580732:exon18:c.2690+1G>A)	.	.	0.999993519952936	0.93
18	19065715	G	C	18	21485754	y	y	splicing	GREB1L(NM_001142966:exon18:c.2690+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2509+1G>C;ENST00000424526:exon18:c.2690+1G>C;ENST00000269218:exon17:c.2363+1G>C;ENST00000580732:exon18:c.2690+1G>C)	.	.	0.999993519952936	0.93
18	19065715	G	T	18	21485754	y	y	splicing	GREB1L(NM_001142966:exon18:c.2690+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2509+1G>T;ENST00000424526:exon18:c.2690+1G>T;ENST00000269218:exon17:c.2363+1G>T;ENST00000580732:exon18:c.2690+1G>T)	.	.	0.999993519952936	0.93
18	19065716	T	A	18	21485755	y	y	splicing	GREB1L(NM_001142966:exon18:c.2690+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2509+2T>A;ENST00000424526:exon18:c.2690+2T>A;ENST00000269218:exon17:c.2363+2T>A;ENST00000580732:exon18:c.2690+2T>A)	.	.	0.999993538874453	0.928
18	19065716	T	C	18	21485755	y	y	splicing	GREB1L(NM_001142966:exon18:c.2690+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2509+2T>C;ENST00000424526:exon18:c.2690+2T>C;ENST00000269218:exon17:c.2363+2T>C;ENST00000580732:exon18:c.2690+2T>C)	.	.	0.987701758012765	0.558
18	19065716	T	G	18	21485755	y	y	splicing	GREB1L(NM_001142966:exon18:c.2690+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon17:c.2509+2T>G;ENST00000424526:exon18:c.2690+2T>G;ENST00000269218:exon17:c.2363+2T>G;ENST00000580732:exon18:c.2690+2T>G)	.	.	0.999993538874453	0.928
18	19065717	A	C	18	21485756	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999878287055529	0.936
18	19065717	A	G	18	21485756	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.904047382639599	0.68
18	19065717	A	T	18	21485756	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999441315258587	0.868
18	19065718	A	C	18	21485757	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.68703120901414	0.464
18	19065718	A	G	18	21485757	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.847459953569501	0.546
18	19065718	A	T	18	21485757	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.694534616960259	0.43
18	19065719	A	C	18	21485758	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.20187873659717E-4	0.05
18	19065719	A	G	18	21485758	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.60198515540567E-4	0.156
18	19065719	A	T	18	21485758	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.96628384463806E-5	0.04
18	19065720	T	A	18	21485759	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0413317640266829	0.18
18	19065720	T	C	18	21485759	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0252904618504072	0.19
18	19065720	T	G	18	21485759	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.09989869686617E-4	0.178
18	19065721	A	C	18	21485760	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.93205829540943E-4	0.006
18	19065721	A	G	18	21485760	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.90389644311708E-4	0.014
18	19065721	A	T	18	21485760	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.85919349356947E-4	0.078
18	19065722	G	A	18	21485761	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00265386852611221	0.004
18	19065722	G	C	18	21485761	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00337693991618383	0.008
18	19065722	G	T	18	21485761	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00271615800683291	0.006
18	19069961	T	A	18	21490000	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.728169907735651	0.498
18	19069961	T	C	18	21490000	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00145273960950063	0.048
18	19069961	T	G	18	21490000	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.562784662704127	0.438
18	19069962	T	A	18	21490001	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.944393003605144	0.784
18	19069962	T	C	18	21490001	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.197496147592523	0.256
18	19069962	T	G	18	21490001	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.766479033423094	0.556
18	19069963	T	A	18	21490002	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.963799663884299	0.694
18	19069963	T	C	18	21490002	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00116756387213789	0.078
18	19069963	T	G	18	21490002	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.941025240772815	0.642
18	19069964	C	A	18	21490003	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.93305256497998	0.654
18	19069964	C	G	18	21490003	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.911542765164623	0.64
18	19069964	C	T	18	21490003	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.947407619999427	0.664
18	19069965	T	A	18	21490004	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999834510237044	0.966
18	19069965	T	C	18	21490004	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.81681530811674E-4	0.002
18	19069965	T	G	18	21490004	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0303293580845284	0.324
18	19069966	G	A	18	21490005	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.4188848540582E-4	0.008
18	19069966	G	C	18	21490005	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.18936125209034E-4	0.004
18	19069966	G	T	18	21490005	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.59546626765757E-5	0.0
18	19069967	T	A	18	21490006	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.741369971970629	0.692
18	19069967	T	C	18	21490006	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00557299478350459	0.05
18	19069967	T	G	18	21490006	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.796829358665932	0.646
18	19069968	T	A	18	21490007	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.989311644033928	0.852
18	19069968	T	C	18	21490007	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.34519868420277E-4	0.116
18	19069968	T	G	18	21490007	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.019501492811964	0.204
18	19069969	G	A	18	21490008	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00445807458101265	0.07
18	19069969	G	C	18	21490008	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.71624937136261E-4	0.054
18	19069969	G	T	18	21490008	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00299890076467521	0.132
18	19069970	A	C	18	21490009	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.1291024070553E-4	0.07
18	19069970	A	G	18	21490009	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.673621475212906	0.348
18	19069970	A	T	18	21490009	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.47480478113347E-4	0.004
18	19069971	A	C	18	21490010	y	y	splicing	GREB1L(NM_001142966:exon19:c.2691-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2510-2A>C;ENST00000424526:exon19:c.2691-2A>C;ENST00000269218:exon18:c.2364-2A>C;ENST00000580732:exon19:c.2691-2A>C)	.	.	0.999988247793601	0.93
18	19069971	A	G	18	21490010	y	y	splicing	GREB1L(NM_001142966:exon19:c.2691-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2510-2A>G;ENST00000424526:exon19:c.2691-2A>G;ENST00000269218:exon18:c.2364-2A>G;ENST00000580732:exon19:c.2691-2A>G)	.	.	0.999988247793601	0.93
18	19069971	A	T	18	21490010	y	y	splicing	GREB1L(NM_001142966:exon19:c.2691-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2510-2A>T;ENST00000424526:exon19:c.2691-2A>T;ENST00000269218:exon18:c.2364-2A>T;ENST00000580732:exon19:c.2691-2A>T)	.	.	0.999988247793601	0.93
18	19069972	G	A	18	21490011	y	y	splicing	GREB1L(NM_001142966:exon19:c.2691-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2510-1G>A;ENST00000424526:exon19:c.2691-1G>A;ENST00000269218:exon18:c.2364-1G>A;ENST00000580732:exon19:c.2691-1G>A)	.	.	0.999985532734767	0.936
18	19069972	G	C	18	21490011	y	y	splicing	GREB1L(NM_001142966:exon19:c.2691-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2510-1G>C;ENST00000424526:exon19:c.2691-1G>C;ENST00000269218:exon18:c.2364-1G>C;ENST00000580732:exon19:c.2691-1G>C)	.	.	0.999985532734767	0.936
18	19069972	G	T	18	21490011	y	y	splicing	GREB1L(NM_001142966:exon19:c.2691-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2510-1G>T;ENST00000424526:exon19:c.2691-1G>T;ENST00000269218:exon18:c.2364-1G>T;ENST00000580732:exon19:c.2691-1G>T)	.	.	0.999985532734767	0.936
18	19069973	G	A	18	21490012	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon19:c.G2691A:p.R897R;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.G2691A:p.R897R;ENSG00000141449:ENST00000269218:exon18:c.G2364A:p.R788R;ENSG00000141449:ENST00000424526:exon19:c.G2691A:p.R897R;	0.503810149574134	0.388
18	19069973	G	C	18	21490012	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.G2691C:p.R897S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.G2691C:p.R897S;ENSG00000141449:ENST00000269218:exon18:c.G2364C:p.R788S;ENSG00000141449:ENST00000424526:exon19:c.G2691C:p.R897S;	0.991990300842566	0.882
18	19069973	G	T	18	21490012	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.G2691T:p.R897S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.G2691T:p.R897S;ENSG00000141449:ENST00000269218:exon18:c.G2364T:p.R788S;ENSG00000141449:ENST00000424526:exon19:c.G2691T:p.R897S;	0.998978234335096	0.964
18	19069974	T	A	18	21490013	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.T2692A:p.Y898N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.T2692A:p.Y898N;ENSG00000141449:ENST00000269218:exon18:c.T2365A:p.Y789N;ENSG00000141449:ENST00000424526:exon19:c.T2692A:p.Y898N;	0.0273499755680428	0.174
18	19069974	T	C	18	21490013	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.T2692C:p.Y898H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.T2692C:p.Y898H;ENSG00000141449:ENST00000269218:exon18:c.T2365C:p.Y789H;ENSG00000141449:ENST00000424526:exon19:c.T2692C:p.Y898H;	0.00735449047765464	0.068
18	19069974	T	G	18	21490013	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.T2692G:p.Y898D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.T2692G:p.Y898D;ENSG00000141449:ENST00000269218:exon18:c.T2365G:p.Y789D;ENSG00000141449:ENST00000424526:exon19:c.T2692G:p.Y898D;	0.0271437259863085	0.142
18	19070310	A	C	18	21490349	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.A3028C:p.K1010Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.A3028C:p.K1010Q;ENSG00000141449:ENST00000269218:exon18:c.A2701C:p.K901Q;ENSG00000141449:ENST00000424526:exon19:c.A3028C:p.K1010Q;	0.370003656772717	0.52
18	19070310	A	G	18	21490349	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.A3028G:p.K1010E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.A3028G:p.K1010E;ENSG00000141449:ENST00000269218:exon18:c.A2701G:p.K901E;ENSG00000141449:ENST00000424526:exon19:c.A3028G:p.K1010E;	0.273561981460368	0.48
18	19070310	A	T	18	21490349	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon19:c.A3028T:p.K1010X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon19:c.A3028T:p.K1010X;ENSG00000141449:ENST00000269218:exon18:c.A2701T:p.K901X;ENSG00000141449:ENST00000424526:exon19:c.A3028T:p.K1010X;	0.980120572052076	0.734
18	19070311	A	C	18	21490350	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.A3029C:p.K1010T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.A3029C:p.K1010T;ENSG00000141449:ENST00000269218:exon18:c.A2702C:p.K901T;ENSG00000141449:ENST00000424526:exon19:c.A3029C:p.K1010T;	0.998911250584429	0.96
18	19070311	A	G	18	21490350	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.A3029G:p.K1010R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.A3029G:p.K1010R;ENSG00000141449:ENST00000269218:exon18:c.A2702G:p.K901R;ENSG00000141449:ENST00000424526:exon19:c.A3029G:p.K1010R;	0.998435106985648	0.864
18	19070311	A	T	18	21490350	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.A3029T:p.K1010M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.A3029T:p.K1010M;ENSG00000141449:ENST00000269218:exon18:c.A2702T:p.K901M;ENSG00000141449:ENST00000424526:exon19:c.A3029T:p.K1010M;	0.999754947721759	0.994
18	19070312	G	A	18	21490351	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon19:c.G3030A:p.K1010K;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.G3030A:p.K1010K;ENSG00000141449:ENST00000269218:exon18:c.G2703A:p.K901K;ENSG00000141449:ENST00000424526:exon19:c.G3030A:p.K1010K;	0.999960048017978	0.978
18	19070312	G	C	18	21490351	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.G3030C:p.K1010N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.G3030C:p.K1010N;ENSG00000141449:ENST00000269218:exon18:c.G2703C:p.K901N;ENSG00000141449:ENST00000424526:exon19:c.G3030C:p.K1010N;	0.999997610789446	1.0
18	19070312	G	T	18	21490351	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon19:c.G3030T:p.K1010N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon19:c.G3030T:p.K1010N;ENSG00000141449:ENST00000269218:exon18:c.G2703T:p.K901N;ENSG00000141449:ENST00000424526:exon19:c.G3030T:p.K1010N;	0.999993057001721	1.0
18	19070313	G	A	18	21490352	y	y	splicing	GREB1L(NM_001142966:exon19:c.3030+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2849+1G>A;ENST00000424526:exon19:c.3030+1G>A;ENST00000269218:exon18:c.2703+1G>A;ENST00000580732:exon19:c.3030+1G>A)	.	.	0.999990361384395	0.938
18	19070313	G	C	18	21490352	y	y	splicing	GREB1L(NM_001142966:exon19:c.3030+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2849+1G>C;ENST00000424526:exon19:c.3030+1G>C;ENST00000269218:exon18:c.2703+1G>C;ENST00000580732:exon19:c.3030+1G>C)	.	.	0.999990361384395	0.938
18	19070313	G	T	18	21490352	y	y	splicing	GREB1L(NM_001142966:exon19:c.3030+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2849+1G>T;ENST00000424526:exon19:c.3030+1G>T;ENST00000269218:exon18:c.2703+1G>T;ENST00000580732:exon19:c.3030+1G>T)	.	.	0.999990361384395	0.938
18	19070314	T	A	18	21490353	y	y	splicing	GREB1L(NM_001142966:exon19:c.3030+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2849+2T>A;ENST00000424526:exon19:c.3030+2T>A;ENST00000269218:exon18:c.2703+2T>A;ENST00000580732:exon19:c.3030+2T>A)	.	.	0.999988247793601	0.93
18	19070314	T	C	18	21490353	y	y	splicing	GREB1L(NM_001142966:exon19:c.3030+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2849+2T>C;ENST00000424526:exon19:c.3030+2T>C;ENST00000269218:exon18:c.2703+2T>C;ENST00000580732:exon19:c.3030+2T>C)	.	.	0.99991522016916	0.91
18	19070314	T	G	18	21490353	y	y	splicing	GREB1L(NM_001142966:exon19:c.3030+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon18:c.2849+2T>G;ENST00000424526:exon19:c.3030+2T>G;ENST00000269218:exon18:c.2703+2T>G;ENST00000580732:exon19:c.3030+2T>G)	.	.	0.999988247793601	0.93
18	19070315	T	A	18	21490354	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.37222903330362E-4	0.068
18	19070315	T	C	18	21490354	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.31072591164488E-4	0.026
18	19070315	T	G	18	21490354	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.88913131476229E-4	0.052
18	19070316	A	C	18	21490355	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.432253019211078	0.468
18	19070316	A	G	18	21490355	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.383449538137714	0.392
18	19070316	A	T	18	21490355	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.6390020593025	0.384
18	19070317	G	A	18	21490356	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999532729798326	0.942
18	19070317	G	C	18	21490356	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999952599053126	0.994
18	19070317	G	T	18	21490356	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999969328492463	0.966
18	19070318	C	A	18	21490357	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.56446930425902E-4	0.034
18	19070318	C	G	18	21490357	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.06627952110263E-4	0.032
18	19070318	C	T	18	21490357	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.31614992255967E-4	0.008
18	19070319	A	C	18	21490358	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.39861077927026E-4	0.018
18	19070319	A	G	18	21490358	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.69581745139832E-4	0.002
18	19070319	A	T	18	21490358	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.27790521421821E-4	0.076
18	19070320	A	C	18	21490359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.51071604878307E-5	0.002
18	19070320	A	G	18	21490359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.54434337054612E-5	0.0
18	19070320	A	T	18	21490359	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.8284130864666E-5	0.0
18	19075619	C	A	18	21495658	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00105659915770556	0.082
18	19075619	C	G	18	21495658	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.58360696080158E-4	0.096
18	19075619	C	T	18	21495658	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.95632209165811E-5	0.034
18	19075620	T	A	18	21495659	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.048349472723335	0.38
18	19075620	T	C	18	21495659	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.15607317054793E-4	0.088
18	19075620	T	G	18	21495659	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00339323457930984	0.252
18	19075621	C	A	18	21495660	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.82930513363347E-4	0.106
18	19075621	C	G	18	21495660	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00123985326067704	0.16
18	19075621	C	T	18	21495660	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.24325520207242E-4	0.018
18	19075622	T	A	18	21495661	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00137762022954687	0.128
18	19075622	T	C	18	21495661	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.58105680752369E-4	0.088
18	19075622	T	G	18	21495661	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.69463396107235E-4	0.13
18	19075623	T	A	18	21495662	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00142686002637812	0.084
18	19075623	T	C	18	21495662	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.02999421619639E-5	0.018
18	19075623	T	G	18	21495662	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.55568891011053E-4	0.094
18	19075624	T	A	18	21495663	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.63856352524559E-4	0.046
18	19075624	T	C	18	21495663	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.26369039719129E-5	0.0
18	19075624	T	G	18	21495663	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.80232136618693E-4	0.04
18	19075625	C	A	18	21495664	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00418116710661845	0.134
18	19075625	C	G	18	21495664	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0043644873458129	0.144
18	19075625	C	T	18	21495664	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.12668380375149E-5	0.0
18	19075626	T	A	18	21495665	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.995493807773495	0.916
18	19075626	T	C	18	21495665	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.04599972085505E-5	0.02
18	19075626	T	G	18	21495665	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00643223609106573	0.242
18	19075627	G	A	18	21495666	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.67539914734263E-5	0.004
18	19075627	G	C	18	21495666	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.14607395936134E-5	0.006
18	19075627	G	T	18	21495666	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.38245402744889E-5	0.0
18	19075628	T	A	18	21495667	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0197376673925754	0.362
18	19075628	T	C	18	21495667	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.14199350049329E-5	0.02
18	19075628	T	G	18	21495667	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.98420968936175	0.74
18	19075629	A	C	18	21495668	y	y	splicing	GREB1L(NM_001142966:exon20:c.3031-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2850-2A>C;ENST00000424526:exon20:c.3031-2A>C;ENST00000269218:exon19:c.2704-2A>C;ENST00000580732:exon20:c.3031-2A>C)	.	.	0.999989917668626	0.926
18	19075629	A	G	18	21495668	y	y	splicing	GREB1L(NM_001142966:exon20:c.3031-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2850-2A>G;ENST00000424526:exon20:c.3031-2A>G;ENST00000269218:exon19:c.2704-2A>G;ENST00000580732:exon20:c.3031-2A>G)	.	.	0.999989917668626	0.926
18	19075629	A	T	18	21495668	y	y	splicing	GREB1L(NM_001142966:exon20:c.3031-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2850-2A>T;ENST00000424526:exon20:c.3031-2A>T;ENST00000269218:exon19:c.2704-2A>T;ENST00000580732:exon20:c.3031-2A>T)	.	.	0.999989917668626	0.914
18	19075630	G	A	18	21495669	y	y	splicing	GREB1L(NM_001142966:exon20:c.3031-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2850-1G>A;ENST00000424526:exon20:c.3031-1G>A;ENST00000269218:exon19:c.2704-1G>A;ENST00000580732:exon20:c.3031-1G>A)	.	.	0.999986675681007	0.932
18	19075630	G	C	18	21495669	y	y	splicing	GREB1L(NM_001142966:exon20:c.3031-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2850-1G>C;ENST00000424526:exon20:c.3031-1G>C;ENST00000269218:exon19:c.2704-1G>C;ENST00000580732:exon20:c.3031-1G>C)	.	.	0.999986675681007	0.932
18	19075630	G	T	18	21495669	y	y	splicing	GREB1L(NM_001142966:exon20:c.3031-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2850-1G>T;ENST00000424526:exon20:c.3031-1G>T;ENST00000269218:exon19:c.2704-1G>T;ENST00000580732:exon20:c.3031-1G>T)	.	.	0.999986675681007	0.932
18	19075631	A	C	18	21495670	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.A3031C:p.S1011R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.A3031C:p.S1011R;ENSG00000141449:ENST00000269218:exon19:c.A2704C:p.S902R;ENSG00000141449:ENST00000424526:exon20:c.A3031C:p.S1011R;	0.00151737907733425	0.126
18	19075631	A	G	18	21495670	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.A3031G:p.S1011G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.A3031G:p.S1011G;ENSG00000141449:ENST00000269218:exon19:c.A2704G:p.S902G;ENSG00000141449:ENST00000424526:exon20:c.A3031G:p.S1011G;	0.00149342389663242	0.006
18	19075631	A	T	18	21495670	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.A3031T:p.S1011C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.A3031T:p.S1011C;ENSG00000141449:ENST00000269218:exon19:c.A2704T:p.S902C;ENSG00000141449:ENST00000424526:exon20:c.A3031T:p.S1011C;	0.333564175313907	0.424
18	19075632	G	A	18	21495671	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.G3032A:p.S1011N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.G3032A:p.S1011N;ENSG00000141449:ENST00000269218:exon19:c.G2705A:p.S902N;ENSG00000141449:ENST00000424526:exon20:c.G3032A:p.S1011N;	2.79615592515325E-4	0.06
18	19075632	G	C	18	21495671	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.G3032C:p.S1011T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.G3032C:p.S1011T;ENSG00000141449:ENST00000269218:exon19:c.G2705C:p.S902T;ENSG00000141449:ENST00000424526:exon20:c.G3032C:p.S1011T;	2.72091768076919E-5	0.022
18	19075632	G	T	18	21495671	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.G3032T:p.S1011I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.G3032T:p.S1011I;ENSG00000141449:ENST00000269218:exon19:c.G2705T:p.S902I;ENSG00000141449:ENST00000424526:exon20:c.G3032T:p.S1011I;	1.58775148320908E-4	0.008
18	19075744	C	A	18	21495783	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon20:c.C3144A:p.P1048P;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.C3144A:p.P1048P;ENSG00000141449:ENST00000269218:exon19:c.C2817A:p.P939P;ENSG00000141449:ENST00000424526:exon20:c.C3144A:p.P1048P;	1.34123021552214E-4	0.036
18	19075744	C	G	18	21495783	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon20:c.C3144G:p.P1048P;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.C3144G:p.P1048P;ENSG00000141449:ENST00000269218:exon19:c.C2817G:p.P939P;ENSG00000141449:ENST00000424526:exon20:c.C3144G:p.P1048P;	7.51816571808764E-4	0.154
18	19075744	C	T	18	21495783	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon20:c.C3144T:p.P1048P;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.C3144T:p.P1048P;ENSG00000141449:ENST00000269218:exon19:c.C2817T:p.P939P;ENSG00000141449:ENST00000424526:exon20:c.C3144T:p.P1048P;	0.666882133750133	0.598
18	19075745	A	C	18	21495784	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon20:c.A3145C:p.R1049R;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.A3145C:p.R1049R;ENSG00000141449:ENST00000269218:exon19:c.A2818C:p.R940R;ENSG00000141449:ENST00000424526:exon20:c.A3145C:p.R1049R;	0.99082174462363	0.88
18	19075745	A	G	18	21495784	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.A3145G:p.R1049G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.A3145G:p.R1049G;ENSG00000141449:ENST00000269218:exon19:c.A2818G:p.R940G;ENSG00000141449:ENST00000424526:exon20:c.A3145G:p.R1049G;	0.999907883354415	1.0
18	19075745	A	T	18	21495784	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.A3145T:p.R1049W;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.A3145T:p.R1049W;ENSG00000141449:ENST00000269218:exon19:c.A2818T:p.R940W;ENSG00000141449:ENST00000424526:exon20:c.A3145T:p.R1049W;	0.999907529117547	0.984
18	19075746	G	A	18	21495785	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.G3146A:p.R1049K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.G3146A:p.R1049K;ENSG00000141449:ENST00000269218:exon19:c.G2819A:p.R940K;ENSG00000141449:ENST00000424526:exon20:c.G3146A:p.R1049K;	0.999992848648547	1.0
18	19075746	G	C	18	21495785	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.G3146C:p.R1049T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.G3146C:p.R1049T;ENSG00000141449:ENST00000269218:exon19:c.G2819C:p.R940T;ENSG00000141449:ENST00000424526:exon20:c.G3146C:p.R1049T;	0.999997627706868	1.0
18	19075746	G	T	18	21495785	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.G3146T:p.R1049M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon20:c.G3146T:p.R1049M;ENSG00000141449:ENST00000269218:exon19:c.G2819T:p.R940M;ENSG00000141449:ENST00000424526:exon20:c.G3146T:p.R1049M;	0.999993456460832	0.998
18	19075747	G	A	18	21495786	y	y	splicing	GREB1L(NM_001142966:exon20:c.3146+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2965+1G>A;ENST00000424526:exon20:c.3146+1G>A;ENST00000269218:exon19:c.2819+1G>A;ENST00000580732:exon20:c.3146+1G>A)	.	.	0.999986675681007	0.928
18	19075747	G	C	18	21495786	y	y	splicing	GREB1L(NM_001142966:exon20:c.3146+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2965+1G>C;ENST00000424526:exon20:c.3146+1G>C;ENST00000269218:exon19:c.2819+1G>C;ENST00000580732:exon20:c.3146+1G>C)	.	.	0.999986675681007	0.94
18	19075747	G	T	18	21495786	y	y	splicing	GREB1L(NM_001142966:exon20:c.3146+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2965+1G>T;ENST00000424526:exon20:c.3146+1G>T;ENST00000269218:exon19:c.2819+1G>T;ENST00000580732:exon20:c.3146+1G>T)	.	.	0.999986675681007	0.94
18	19075748	T	A	18	21495787	y	y	splicing	GREB1L(NM_001142966:exon20:c.3146+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2965+2T>A;ENST00000424526:exon20:c.3146+2T>A;ENST00000269218:exon19:c.2819+2T>A;ENST00000580732:exon20:c.3146+2T>A)	.	.	0.999989917668626	0.926
18	19075748	T	C	18	21495787	y	y	splicing	GREB1L(NM_001142966:exon20:c.3146+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2965+2T>C;ENST00000424526:exon20:c.3146+2T>C;ENST00000269218:exon19:c.2819+2T>C;ENST00000580732:exon20:c.3146+2T>C)	.	.	0.994301540626638	0.626
18	19075748	T	G	18	21495787	y	y	splicing	GREB1L(NM_001142966:exon20:c.3146+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon19:c.2965+2T>G;ENST00000424526:exon20:c.3146+2T>G;ENST00000269218:exon19:c.2819+2T>G;ENST00000580732:exon20:c.3146+2T>G)	.	.	0.999989917668626	0.926
18	19075749	A	C	18	21495788	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999948858423105	0.934
18	19075749	A	G	18	21495788	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997284472460753	0.75
18	19075749	A	T	18	21495788	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999941668168811	0.924
18	19075750	C	A	18	21495789	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.96843297201499E-5	0.056
18	19075750	C	G	18	21495789	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.23693832131608E-5	0.066
18	19075750	C	T	18	21495789	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.56557167104818E-5	0.03
18	19075751	A	C	18	21495790	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.9906428230691E-5	0.01
18	19075751	A	G	18	21495790	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.45391622743012E-5	0.082
18	19075751	A	T	18	21495790	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.21835989260248E-5	0.006
18	19075752	G	A	18	21495791	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.02363853735885E-5	0.132
18	19075752	G	C	18	21495791	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.32224867399884E-5	0.018
18	19075752	G	T	18	21495791	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.09532155316783E-5	0.082
18	19075753	T	A	18	21495792	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.86597937135435E-5	0.0
18	19075753	T	C	18	21495792	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.59901939456998E-5	0.0
18	19075753	T	G	18	21495792	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.59901939456998E-5	0.0
18	19075754	T	A	18	21495793	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.02603740158293E-4	0.002
18	19075754	T	C	18	21495793	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.15230145046218E-4	0.01
18	19075754	T	G	18	21495793	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.34088995096756E-5	0.004
18	19076403	A	C	18	21496442	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.57715514149863E-5	0.004
18	19076403	A	G	18	21496442	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.12857503350259E-4	0.008
18	19076403	A	T	18	21496442	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.60223626377465E-4	0.04
18	19076404	C	A	18	21496443	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.011396972057227	0.118
18	19076404	C	G	18	21496443	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999882773791174	0.97
18	19076404	C	T	18	21496443	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.86261798168999E-5	0.058
18	19076405	T	A	18	21496444	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.942890017195491	0.714
18	19076405	T	C	18	21496444	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00428107334902869	0.056
18	19076405	T	G	18	21496444	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.605699293242135	0.554
18	19076406	T	A	18	21496445	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998261323558893	0.912
18	19076406	T	C	18	21496445	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.22420686163699	0.296
18	19076406	T	G	18	21496445	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.990683730323974	0.88
18	19076407	T	A	18	21496446	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0179060186918203	0.214
18	19076407	T	C	18	21496446	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.93919921107777E-5	0.004
18	19076407	T	G	18	21496446	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00561928878254715	0.244
18	19076408	T	A	18	21496447	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999683345067983	0.992
18	19076408	T	C	18	21496447	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.76134636123861E-5	0.008
18	19076408	T	G	18	21496447	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0681246840033724	0.268
18	19076409	G	A	18	21496448	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.82365649990427E-5	0.048
18	19076409	G	C	18	21496448	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.75386949740698E-5	0.014
18	19076409	G	T	18	21496448	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.00838462617965E-4	0.042
18	19076410	T	A	18	21496449	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.518570696914953	0.532
18	19076410	T	C	18	21496449	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00842399851480491	0.226
18	19076410	T	G	18	21496449	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.881908123612947	0.522
18	19076411	T	A	18	21496450	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.31373537117598E-4	0.006
18	19076411	T	C	18	21496450	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.28283299697729E-4	0.044
18	19076411	T	G	18	21496450	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00111600963957774	0.056
18	19076412	C	A	18	21496451	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.845229501101455	0.742
18	19076412	C	G	18	21496451	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99962131343454	0.96
18	19076412	C	T	18	21496451	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00693619695955107	0.12
18	19076413	A	C	18	21496452	y	y	splicing	GREB1L(NM_001142966:exon21:c.3147-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.2966-2A>C;ENST00000424526:exon21:c.3147-2A>C;ENST00000269218:exon20:c.2820-2A>C;ENST00000580732:exon21:c.3147-2A>C)	.	.	0.999989917668626	0.928
18	19076413	A	G	18	21496452	y	y	splicing	GREB1L(NM_001142966:exon21:c.3147-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.2966-2A>G;ENST00000424526:exon21:c.3147-2A>G;ENST00000269218:exon20:c.2820-2A>G;ENST00000580732:exon21:c.3147-2A>G)	.	.	0.999989917668626	0.928
18	19076413	A	T	18	21496452	y	y	splicing	GREB1L(NM_001142966:exon21:c.3147-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.2966-2A>T;ENST00000424526:exon21:c.3147-2A>T;ENST00000269218:exon20:c.2820-2A>T;ENST00000580732:exon21:c.3147-2A>T)	.	.	0.999989917668626	0.928
18	19076414	G	A	18	21496453	y	y	splicing	GREB1L(NM_001142966:exon21:c.3147-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.2966-1G>A;ENST00000424526:exon21:c.3147-1G>A;ENST00000269218:exon20:c.2820-1G>A;ENST00000580732:exon21:c.3147-1G>A)	.	.	0.999981760802075	0.942
18	19076414	G	C	18	21496453	y	y	splicing	GREB1L(NM_001142966:exon21:c.3147-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.2966-1G>C;ENST00000424526:exon21:c.3147-1G>C;ENST00000269218:exon20:c.2820-1G>C;ENST00000580732:exon21:c.3147-1G>C)	.	.	0.999981760802075	0.942
18	19076414	G	T	18	21496453	y	y	splicing	GREB1L(NM_001142966:exon21:c.3147-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.2966-1G>T;ENST00000424526:exon21:c.3147-1G>T;ENST00000269218:exon20:c.2820-1G>T;ENST00000580732:exon21:c.3147-1G>T)	.	.	0.999981760802075	0.942
18	19076415	G	A	18	21496454	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon21:c.G3147A:p.R1049R;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3147A:p.R1049R;ENSG00000141449:ENST00000269218:exon20:c.G2820A:p.R940R;ENSG00000141449:ENST00000424526:exon21:c.G3147A:p.R1049R;	0.0263840251715931	0.296
18	19076415	G	C	18	21496454	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.G3147C:p.R1049S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3147C:p.R1049S;ENSG00000141449:ENST00000269218:exon20:c.G2820C:p.R940S;ENSG00000141449:ENST00000424526:exon21:c.G3147C:p.R1049S;	0.964859319698485	0.79
18	19076415	G	T	18	21496454	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.G3147T:p.R1049S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3147T:p.R1049S;ENSG00000141449:ENST00000269218:exon20:c.G2820T:p.R940S;ENSG00000141449:ENST00000424526:exon21:c.G3147T:p.R1049S;	0.997850961661088	0.852
18	19076416	T	A	18	21496455	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.T3148A:p.S1050T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.T3148A:p.S1050T;ENSG00000141449:ENST00000269218:exon20:c.T2821A:p.S941T;ENSG00000141449:ENST00000424526:exon21:c.T3148A:p.S1050T;	0.319252189748337	0.404
18	19076416	T	C	18	21496455	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.T3148C:p.S1050P;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.T3148C:p.S1050P;ENSG00000141449:ENST00000269218:exon20:c.T2821C:p.S941P;ENSG00000141449:ENST00000424526:exon21:c.T3148C:p.S1050P;	0.252662023965829	0.496
18	19076416	T	G	18	21496455	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.T3148G:p.S1050A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.T3148G:p.S1050A;ENSG00000141449:ENST00000269218:exon20:c.T2821G:p.S941A;ENSG00000141449:ENST00000424526:exon21:c.T3148G:p.S1050A;	0.194109186903573	0.428
18	19076657	C	A	18	21496696	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon21:c.C3389A:p.S1130X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon21:c.C3389A:p.S1130X;ENSG00000141449:ENST00000269218:exon20:c.C3062A:p.S1021X;ENSG00000141449:ENST00000424526:exon21:c.C3389A:p.S1130X;	0.962552450413578	0.822
18	19076657	C	G	18	21496696	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.C3389G:p.S1130W;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.C3389G:p.S1130W;ENSG00000141449:ENST00000269218:exon20:c.C3062G:p.S1021W;ENSG00000141449:ENST00000424526:exon21:c.C3389G:p.S1130W;	0.918390820048431	0.648
18	19076657	C	T	18	21496696	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.C3389T:p.S1130L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.C3389T:p.S1130L;ENSG00000141449:ENST00000269218:exon20:c.C3062T:p.S1021L;ENSG00000141449:ENST00000424526:exon21:c.C3389T:p.S1130L;	0.998870318004528	0.924
18	19076658	G	A	18	21496697	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon21:c.G3390A:p.S1130S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3390A:p.S1130S;ENSG00000141449:ENST00000269218:exon20:c.G3063A:p.S1021S;ENSG00000141449:ENST00000424526:exon21:c.G3390A:p.S1130S;	6.87552221114362E-5	0.044
18	19076658	G	C	18	21496697	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon21:c.G3390C:p.S1130S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3390C:p.S1130S;ENSG00000141449:ENST00000269218:exon20:c.G3063C:p.S1021S;ENSG00000141449:ENST00000424526:exon21:c.G3390C:p.S1130S;	1.50722075186259E-5	0.0
18	19076658	G	T	18	21496697	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon21:c.G3390T:p.S1130S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3390T:p.S1130S;ENSG00000141449:ENST00000269218:exon20:c.G3063T:p.S1021S;ENSG00000141449:ENST00000424526:exon21:c.G3390T:p.S1130S;	1.19546275605737E-4	0.02
18	19076659	G	A	18	21496698	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.G3391A:p.G1131S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3391A:p.G1131S;ENSG00000141449:ENST00000269218:exon20:c.G3064A:p.G1022S;ENSG00000141449:ENST00000424526:exon21:c.G3391A:p.G1131S;	0.99999439304151	1.0
18	19076659	G	C	18	21496698	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.G3391C:p.G1131R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3391C:p.G1131R;ENSG00000141449:ENST00000269218:exon20:c.G3064C:p.G1022R;ENSG00000141449:ENST00000424526:exon21:c.G3391C:p.G1131R;	0.999993224004941	0.998
18	19076659	G	T	18	21496698	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon21:c.G3391T:p.G1131C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon21:c.G3391T:p.G1131C;ENSG00000141449:ENST00000269218:exon20:c.G3064T:p.G1022C;ENSG00000141449:ENST00000424526:exon21:c.G3391T:p.G1131C;	0.99999011594992	0.996
18	19076660	G	A	18	21496699	y	y	splicing	GREB1L(NM_001142966:exon21:c.3391+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.3210+1G>A;ENST00000424526:exon21:c.3391+1G>A;ENST00000269218:exon20:c.3064+1G>A;ENST00000580732:exon21:c.3391+1G>A)	.	.	0.999974090184857	0.912
18	19076660	G	C	18	21496699	y	y	splicing	GREB1L(NM_001142966:exon21:c.3391+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.3210+1G>C;ENST00000424526:exon21:c.3391+1G>C;ENST00000269218:exon20:c.3064+1G>C;ENST00000580732:exon21:c.3391+1G>C)	.	.	0.99993314117114	0.914
18	19076660	G	T	18	21496699	y	y	splicing	GREB1L(NM_001142966:exon21:c.3391+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.3210+1G>T;ENST00000424526:exon21:c.3391+1G>T;ENST00000269218:exon20:c.3064+1G>T;ENST00000580732:exon21:c.3391+1G>T)	.	.	0.99993314117114	0.91
18	19076661	T	A	18	21496700	y	y	splicing	GREB1L(NM_001142966:exon21:c.3391+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.3210+2T>A;ENST00000424526:exon21:c.3391+2T>A;ENST00000269218:exon20:c.3064+2T>A;ENST00000580732:exon21:c.3391+2T>A)	.	.	0.99994568797423	0.908
18	19076661	T	C	18	21496700	y	y	splicing	GREB1L(NM_001142966:exon21:c.3391+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.3210+2T>C;ENST00000424526:exon21:c.3391+2T>C;ENST00000269218:exon20:c.3064+2T>C;ENST00000580732:exon21:c.3391+2T>C)	.	.	0.999604035398332	0.904
18	19076661	T	G	18	21496700	y	y	splicing	GREB1L(NM_001142966:exon21:c.3391+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon20:c.3210+2T>G;ENST00000424526:exon21:c.3391+2T>G;ENST00000269218:exon20:c.3064+2T>G;ENST00000580732:exon21:c.3391+2T>G)	.	.	0.99994568797423	0.91
18	19076662	C	A	18	21496701	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.11597417957692E-4	0.11
18	19076662	C	G	18	21496701	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.25597167304895E-4	0.164
18	19076662	C	T	18	21496701	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.67897037115302E-4	0.024
18	19076663	A	C	18	21496702	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.593610991660104	0.464
18	19076663	A	G	18	21496702	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.579958000297183	0.392
18	19076663	A	T	18	21496702	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.579958000297183	0.394
18	19076664	G	A	18	21496703	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999953793319852	1.0
18	19076664	G	C	18	21496703	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999933143326313	0.986
18	19076664	G	T	18	21496703	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999912679427675	0.97
18	19076665	T	A	18	21496704	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.990324486434534	0.806
18	19076665	T	C	18	21496704	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.992341435891441	0.856
18	19076665	T	G	18	21496704	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.990997025708029	0.754
18	19076666	A	C	18	21496705	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.89724365129687E-4	0.024
18	19076666	A	G	18	21496705	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00114956809870914	0.082
18	19076666	A	T	18	21496705	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00106016544285787	0.07
18	19076667	C	A	18	21496706	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00196221802945868	0.13
18	19076667	C	G	18	21496706	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00212250780564328	0.186
18	19076667	C	T	18	21496706	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00167467077473628	0.138
18	19079678	G	A	18	21499717	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.59347308391962E-5	0.028
18	19079678	G	C	18	21499717	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.8917931190308E-6	0.004
18	19079678	G	T	18	21499717	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.27220964128093E-5	0.002
18	19079679	T	A	18	21499718	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.39232541643481E-4	0.17
18	19079679	T	C	18	21499718	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.09650540378912E-4	0.064
18	19079679	T	G	18	21499718	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.03919773311785E-4	0.16
18	19079680	T	A	18	21499719	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.11854238569334E-4	0.158
18	19079680	T	C	18	21499719	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.99538209231592E-5	0.054
18	19079680	T	G	18	21499719	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.63791623626476E-5	0.15
18	19079681	C	A	18	21499720	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.72901995380902E-5	0.038
18	19079681	C	G	18	21499720	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.20005978138436E-4	0.014
18	19079681	C	T	18	21499720	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.25204947159058E-5	0.0
18	19079682	T	A	18	21499721	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.59796116173134E-4	0.054
18	19079682	T	C	18	21499721	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.10502103684247E-5	0.002
18	19079682	T	G	18	21499721	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.78695872451606E-5	0.038
18	19079683	C	A	18	21499722	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.54683041440512E-4	0.174
18	19079683	C	G	18	21499722	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.46737635402007E-4	0.042
18	19079683	C	T	18	21499722	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.68175299821724E-5	0.002
18	19079684	T	A	18	21499723	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.54531906738634E-4	0.138
18	19079684	T	C	18	21499723	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.14604284772669E-4	0.038
18	19079684	T	G	18	21499723	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.40792983932244E-4	0.182
18	19079685	C	A	18	21499724	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.47150841398103E-5	0.03
18	19079685	C	G	18	21499724	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.47150841398103E-5	0.032
18	19079685	C	T	18	21499724	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.03572494468961E-6	0.004
18	19079686	A	C	18	21499725	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.04797108148338E-5	0.0
18	19079686	A	G	18	21499725	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.74108293950862E-5	0.0
18	19079686	A	T	18	21499725	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.44671701401193E-5	0.0
18	19079687	C	A	18	21499726	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.304217578801953	0.462
18	19079687	C	G	18	21499726	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999775635168833	0.94
18	19079687	C	T	18	21499726	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0232405739936765	0.094
18	19079688	A	C	18	21499727	y	y	splicing	GREB1L(NM_001142966:exon22:c.3392-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3211-2A>C;ENST00000424526:exon22:c.3392-2A>C;ENST00000269218:exon21:c.3065-2A>C;ENST00000580732:exon22:c.3392-2A>C)	.	.	0.999989917668626	0.926
18	19079688	A	G	18	21499727	y	y	splicing	GREB1L(NM_001142966:exon22:c.3392-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3211-2A>G;ENST00000424526:exon22:c.3392-2A>G;ENST00000269218:exon21:c.3065-2A>G;ENST00000580732:exon22:c.3392-2A>G)	.	.	0.999989917668626	0.926
18	19079688	A	T	18	21499727	y	y	splicing	GREB1L(NM_001142966:exon22:c.3392-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3211-2A>T;ENST00000424526:exon22:c.3392-2A>T;ENST00000269218:exon21:c.3065-2A>T;ENST00000580732:exon22:c.3392-2A>T)	.	.	0.999989917668626	0.926
18	19079689	G	A	18	21499728	y	y	splicing	GREB1L(NM_001142966:exon22:c.3392-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3211-1G>A;ENST00000424526:exon22:c.3392-1G>A;ENST00000269218:exon21:c.3065-1G>A;ENST00000580732:exon22:c.3392-1G>A)	.	.	0.999986675681007	0.936
18	19079689	G	C	18	21499728	y	y	splicing	GREB1L(NM_001142966:exon22:c.3392-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3211-1G>C;ENST00000424526:exon22:c.3392-1G>C;ENST00000269218:exon21:c.3065-1G>C;ENST00000580732:exon22:c.3392-1G>C)	.	.	0.999986675681007	0.936
18	19079689	G	T	18	21499728	y	y	splicing	GREB1L(NM_001142966:exon22:c.3392-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3211-1G>T;ENST00000424526:exon22:c.3392-1G>T;ENST00000269218:exon21:c.3065-1G>T;ENST00000580732:exon22:c.3392-1G>T)	.	.	0.999986675681007	0.936
18	19079690	G	A	18	21499729	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.G3392A:p.G1131D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.G3392A:p.G1131D;ENSG00000141449:ENST00000269218:exon21:c.G3065A:p.G1022D;ENSG00000141449:ENST00000424526:exon22:c.G3392A:p.G1131D;	0.982680050478583	0.768
18	19079690	G	C	18	21499729	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.G3392C:p.G1131A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.G3392C:p.G1131A;ENSG00000141449:ENST00000269218:exon21:c.G3065C:p.G1022A;ENSG00000141449:ENST00000424526:exon22:c.G3392C:p.G1131A;	0.996097691040281	0.866
18	19079690	G	T	18	21499729	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.G3392T:p.G1131V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.G3392T:p.G1131V;ENSG00000141449:ENST00000269218:exon21:c.G3065T:p.G1022V;ENSG00000141449:ENST00000424526:exon22:c.G3392T:p.G1131V;	0.996555100542683	0.938
18	19079691	T	A	18	21499730	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon22:c.T3393A:p.G1131G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.T3393A:p.G1131G;ENSG00000141449:ENST00000269218:exon21:c.T3066A:p.G1022G;ENSG00000141449:ENST00000424526:exon22:c.T3393A:p.G1131G;	1.63984912109264E-4	0.002
18	19079691	T	C	18	21499730	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon22:c.T3393C:p.G1131G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.T3393C:p.G1131G;ENSG00000141449:ENST00000269218:exon21:c.T3066C:p.G1022G;ENSG00000141449:ENST00000424526:exon22:c.T3393C:p.G1131G;	9.03049559025933E-5	0.014
18	19079691	T	G	18	21499730	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon22:c.T3393G:p.G1131G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.T3393G:p.G1131G;ENSG00000141449:ENST00000269218:exon21:c.T3066G:p.G1022G;ENSG00000141449:ENST00000424526:exon22:c.T3393G:p.G1131G;	1.27042610133876E-4	0.006
18	19080265	C	A	18	21500304	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.C3967A:p.Q1323K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.C3967A:p.Q1323K;ENSG00000141449:ENST00000269218:exon21:c.C3640A:p.Q1214K;ENSG00000141449:ENST00000424526:exon22:c.C3967A:p.Q1323K;	5.78844976236181E-4	0.058
18	19080265	C	G	18	21500304	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.C3967G:p.Q1323E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.C3967G:p.Q1323E;ENSG00000141449:ENST00000269218:exon21:c.C3640G:p.Q1214E;ENSG00000141449:ENST00000424526:exon22:c.C3967G:p.Q1323E;	8.81467818463649E-4	0.142
18	19080265	C	T	18	21500304	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon22:c.C3967T:p.Q1323X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon22:c.C3967T:p.Q1323X;ENSG00000141449:ENST00000269218:exon21:c.C3640T:p.Q1214X;ENSG00000141449:ENST00000424526:exon22:c.C3967T:p.Q1323X;	0.579201476723718	0.642
18	19080266	A	C	18	21500305	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.A3968C:p.Q1323P;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.A3968C:p.Q1323P;ENSG00000141449:ENST00000269218:exon21:c.A3641C:p.Q1214P;ENSG00000141449:ENST00000424526:exon22:c.A3968C:p.Q1323P;	0.999344878249545	0.978
18	19080266	A	G	18	21500305	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.A3968G:p.Q1323R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.A3968G:p.Q1323R;ENSG00000141449:ENST00000269218:exon21:c.A3641G:p.Q1214R;ENSG00000141449:ENST00000424526:exon22:c.A3968G:p.Q1323R;	0.998147348471776	0.956
18	19080266	A	T	18	21500305	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.A3968T:p.Q1323L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.A3968T:p.Q1323L;ENSG00000141449:ENST00000269218:exon21:c.A3641T:p.Q1214L;ENSG00000141449:ENST00000424526:exon22:c.A3968T:p.Q1323L;	0.999789935068342	0.986
18	19080267	G	A	18	21500306	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon22:c.G3969A:p.Q1323Q;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.G3969A:p.Q1323Q;ENSG00000141449:ENST00000269218:exon21:c.G3642A:p.Q1214Q;ENSG00000141449:ENST00000424526:exon22:c.G3969A:p.Q1323Q;	0.999296321898138	0.972
18	19080267	G	C	18	21500306	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.G3969C:p.Q1323H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.G3969C:p.Q1323H;ENSG00000141449:ENST00000269218:exon21:c.G3642C:p.Q1214H;ENSG00000141449:ENST00000424526:exon22:c.G3969C:p.Q1323H;	0.999995991704255	0.996
18	19080267	G	T	18	21500306	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon22:c.G3969T:p.Q1323H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon22:c.G3969T:p.Q1323H;ENSG00000141449:ENST00000269218:exon21:c.G3642T:p.Q1214H;ENSG00000141449:ENST00000424526:exon22:c.G3969T:p.Q1323H;	0.999981303082652	0.994
18	19080268	G	A	18	21500307	y	y	splicing	GREB1L(NM_001142966:exon22:c.3969+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3788+1G>A;ENST00000424526:exon22:c.3969+1G>A;ENST00000269218:exon21:c.3642+1G>A;ENST00000580732:exon22:c.3969+1G>A)	.	.	0.999986675681007	0.924
18	19080268	G	C	18	21500307	y	y	splicing	GREB1L(NM_001142966:exon22:c.3969+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3788+1G>C;ENST00000424526:exon22:c.3969+1G>C;ENST00000269218:exon21:c.3642+1G>C;ENST00000580732:exon22:c.3969+1G>C)	.	.	0.999976137096505	0.922
18	19080268	G	T	18	21500307	y	y	splicing	GREB1L(NM_001142966:exon22:c.3969+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3788+1G>T;ENST00000424526:exon22:c.3969+1G>T;ENST00000269218:exon21:c.3642+1G>T;ENST00000580732:exon22:c.3969+1G>T)	.	.	0.999986675681007	0.924
18	19080269	T	A	18	21500308	y	y	splicing	GREB1L(NM_001142966:exon22:c.3969+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3788+2T>A;ENST00000424526:exon22:c.3969+2T>A;ENST00000269218:exon21:c.3642+2T>A;ENST00000580732:exon22:c.3969+2T>A)	.	.	0.999967001206676	0.938
18	19080269	T	C	18	21500308	y	y	splicing	GREB1L(NM_001142966:exon22:c.3969+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3788+2T>C;ENST00000424526:exon22:c.3969+2T>C;ENST00000269218:exon21:c.3642+2T>C;ENST00000580732:exon22:c.3969+2T>C)	.	.	0.939522044576422	0.594
18	19080269	T	G	18	21500308	y	y	splicing	GREB1L(NM_001142966:exon22:c.3969+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon21:c.3788+2T>G;ENST00000424526:exon22:c.3969+2T>G;ENST00000269218:exon21:c.3642+2T>G;ENST00000580732:exon22:c.3969+2T>G)	.	.	0.999967001206676	0.944
18	19080270	A	C	18	21500309	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.984138020617276	0.64
18	19080270	A	G	18	21500309	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0386988224453096	0.264
18	19080270	A	T	18	21500309	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99439233863617	0.688
18	19080271	G	A	18	21500310	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.29371256834098E-4	0.048
18	19080271	G	C	18	21500310	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.61457212002291E-4	0.094
18	19080271	G	T	18	21500310	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.81682114853304E-4	0.032
18	19080272	G	A	18	21500311	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.390935532016677	0.534
18	19080272	G	C	18	21500311	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.941842876536544	0.628
18	19080272	G	T	18	21500311	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.97291717439399	0.684
18	19080273	G	A	18	21500312	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.07381673354498E-4	0.0
18	19080273	G	C	18	21500312	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.79256980244235E-4	0.016
18	19080273	G	T	18	21500312	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.25833450868269E-4	0.026
18	19080274	C	A	18	21500313	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.59660858139777E-5	0.0
18	19080274	C	G	18	21500313	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.63318870080799E-5	0.0
18	19080274	C	T	18	21500313	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.63318870080799E-5	0.0
18	19080275	C	A	18	21500314	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.64706780885575E-5	0.0
18	19080275	C	G	18	21500314	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.33860375533766E-5	0.0
18	19080275	C	T	18	21500314	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.80182791688552E-6	0.0
18	19080489	T	A	18	21500528	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.22102204851956	0.456
18	19080489	T	C	18	21500528	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00754962174148249	0.128
18	19080489	T	G	18	21500528	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999903967601533	0.982
18	19080490	C	A	18	21500529	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.90656635866694E-4	0.034
18	19080490	C	G	18	21500529	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.03748294495074E-5	0.06
18	19080490	C	T	18	21500529	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.26282657477284E-5	0.0
18	19080491	T	A	18	21500530	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.140453401984424	0.42
18	19080491	T	C	18	21500530	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00198434248044409	0.096
18	19080491	T	G	18	21500530	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0495142670647071	0.372
18	19080492	T	A	18	21500531	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0301579235707839	0.304
18	19080492	T	C	18	21500531	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.83113270933102E-5	0.05
18	19080492	T	G	18	21500531	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00287143107566539	0.258
18	19080493	T	A	18	21500532	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00245908422055655	0.158
18	19080493	T	C	18	21500532	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.37915913845475E-5	0.0
18	19080493	T	G	18	21500532	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00180595722743949	0.134
18	19080494	C	A	18	21500533	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.42896747072163E-4	0.154
18	19080494	C	G	18	21500533	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.09037695276027E-4	0.194
18	19080494	C	T	18	21500533	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.89576706848858E-5	0.006
18	19080495	C	A	18	21500534	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.243376922229977	0.424
18	19080495	C	G	18	21500534	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0699403440336139	0.412
18	19080495	C	T	18	21500534	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.56762462791412E-4	0.018
18	19080496	A	C	18	21500535	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.67944982512943E-5	0.0
18	19080496	A	G	18	21500535	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.28475376997949E-5	0.0
18	19080496	A	T	18	21500535	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.44567246961622E-5	0.002
18	19080497	T	A	18	21500536	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.15746851110477E-5	0.002
18	19080497	T	C	18	21500536	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.33994016075553E-5	0.048
18	19080497	T	G	18	21500536	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.897999502573611	0.68
18	19080498	T	A	18	21500537	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0978862124328977	0.348
18	19080498	T	C	18	21500537	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.37561864695207E-5	0.052
18	19080498	T	G	18	21500537	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.974302510074618	0.63
18	19080499	A	C	18	21500538	y	y	splicing	GREB1L(NM_001142966:exon23:c.3970-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3789-2A>C;ENST00000424526:exon23:c.3970-2A>C;ENST00000269218:exon22:c.3643-2A>C;ENST00000580732:exon23:c.3970-2A>C)	.	.	0.999962770432696	0.928
18	19080499	A	G	18	21500538	y	y	splicing	GREB1L(NM_001142966:exon23:c.3970-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3789-2A>G;ENST00000424526:exon23:c.3970-2A>G;ENST00000269218:exon22:c.3643-2A>G;ENST00000580732:exon23:c.3970-2A>G)	.	.	0.999962770432696	0.93
18	19080499	A	T	18	21500538	y	y	splicing	GREB1L(NM_001142966:exon23:c.3970-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3789-2A>T;ENST00000424526:exon23:c.3970-2A>T;ENST00000269218:exon22:c.3643-2A>T;ENST00000580732:exon23:c.3970-2A>T)	.	.	0.999962770432696	0.926
18	19080500	G	A	18	21500539	y	y	splicing	GREB1L(NM_001142966:exon23:c.3970-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3789-1G>A;ENST00000424526:exon23:c.3970-1G>A;ENST00000269218:exon22:c.3643-1G>A;ENST00000580732:exon23:c.3970-1G>A)	.	.	0.999977747122386	0.928
18	19080500	G	C	18	21500539	y	y	splicing	GREB1L(NM_001142966:exon23:c.3970-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3789-1G>C;ENST00000424526:exon23:c.3970-1G>C;ENST00000269218:exon22:c.3643-1G>C;ENST00000580732:exon23:c.3970-1G>C)	.	.	0.999942577362016	0.928
18	19080500	G	T	18	21500539	y	y	splicing	GREB1L(NM_001142966:exon23:c.3970-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3789-1G>T;ENST00000424526:exon23:c.3970-1G>T;ENST00000269218:exon22:c.3643-1G>T;ENST00000580732:exon23:c.3970-1G>T)	.	.	0.999968981608506	0.928
18	19080501	G	A	18	21500540	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.G3970A:p.V1324M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.G3970A:p.V1324M;ENSG00000141449:ENST00000269218:exon22:c.G3643A:p.V1215M;ENSG00000141449:ENST00000424526:exon23:c.G3970A:p.V1324M;	0.9994456723866	0.934
18	19080501	G	C	18	21500540	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.G3970C:p.V1324L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.G3970C:p.V1324L;ENSG00000141449:ENST00000269218:exon22:c.G3643C:p.V1215L;ENSG00000141449:ENST00000424526:exon23:c.G3970C:p.V1324L;	0.999817637594815	0.978
18	19080501	G	T	18	21500540	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.G3970T:p.V1324L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.G3970T:p.V1324L;ENSG00000141449:ENST00000269218:exon22:c.G3643T:p.V1215L;ENSG00000141449:ENST00000424526:exon23:c.G3970T:p.V1324L;	0.999913099480061	0.988
18	19080502	T	A	18	21500541	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.T3971A:p.V1324E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.T3971A:p.V1324E;ENSG00000141449:ENST00000269218:exon22:c.T3644A:p.V1215E;ENSG00000141449:ENST00000424526:exon23:c.T3971A:p.V1324E;	0.0347999686033951	0.2
18	19080502	T	C	18	21500541	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.T3971C:p.V1324A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.T3971C:p.V1324A;ENSG00000141449:ENST00000269218:exon22:c.T3644C:p.V1215A;ENSG00000141449:ENST00000424526:exon23:c.T3971C:p.V1324A;	0.0396991387705362	0.288
18	19080502	T	G	18	21500541	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.T3971G:p.V1324G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.T3971G:p.V1324G;ENSG00000141449:ENST00000269218:exon22:c.T3644G:p.V1215G;ENSG00000141449:ENST00000424526:exon23:c.T3971G:p.V1324G;	0.0199556235277721	0.16
18	19080601	C	A	18	21500640	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.C4070A:p.T1357N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.C4070A:p.T1357N;ENSG00000141449:ENST00000269218:exon22:c.C3743A:p.T1248N;ENSG00000141449:ENST00000424526:exon23:c.C4070A:p.T1357N;	6.51440642131729E-5	0.008
18	19080601	C	G	18	21500640	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.C4070G:p.T1357S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.C4070G:p.T1357S;ENSG00000141449:ENST00000269218:exon22:c.C3743G:p.T1248S;ENSG00000141449:ENST00000424526:exon23:c.C4070G:p.T1357S;	1.76500585612175E-4	0.006
18	19080601	C	T	18	21500640	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.C4070T:p.T1357I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.C4070T:p.T1357I;ENSG00000141449:ENST00000269218:exon22:c.C3743T:p.T1248I;ENSG00000141449:ENST00000424526:exon23:c.C4070T:p.T1357I;	1.32890115736341E-4	0.158
18	19080602	C	A	18	21500641	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon23:c.C4071A:p.T1357T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.C4071A:p.T1357T;ENSG00000141449:ENST00000269218:exon22:c.C3744A:p.T1248T;ENSG00000141449:ENST00000424526:exon23:c.C4071A:p.T1357T;	3.06774401463417E-5	0.042
18	19080602	C	G	18	21500641	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon23:c.C4071G:p.T1357T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.C4071G:p.T1357T;ENSG00000141449:ENST00000269218:exon22:c.C3744G:p.T1248T;ENSG00000141449:ENST00000424526:exon23:c.C4071G:p.T1357T;	2.66733744956297E-5	0.006
18	19080602	C	T	18	21500641	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon23:c.C4071T:p.T1357T;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.C4071T:p.T1357T;ENSG00000141449:ENST00000269218:exon22:c.C3744T:p.T1248T;ENSG00000141449:ENST00000424526:exon23:c.C4071T:p.T1357T;	2.09985553313894E-5	0.018
18	19080603	G	A	18	21500642	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.G4072A:p.D1358N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.G4072A:p.D1358N;ENSG00000141449:ENST00000269218:exon22:c.G3745A:p.D1249N;ENSG00000141449:ENST00000424526:exon23:c.G4072A:p.D1358N;	0.815740179845556	0.468
18	19080603	G	C	18	21500642	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.G4072C:p.D1358H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.G4072C:p.D1358H;ENSG00000141449:ENST00000269218:exon22:c.G3745C:p.D1249H;ENSG00000141449:ENST00000424526:exon23:c.G4072C:p.D1358H;	0.999827220567323	0.964
18	19080603	G	T	18	21500642	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon23:c.G4072T:p.D1358Y;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon23:c.G4072T:p.D1358Y;ENSG00000141449:ENST00000269218:exon22:c.G3745T:p.D1249Y;ENSG00000141449:ENST00000424526:exon23:c.G4072T:p.D1358Y;	0.981119139210246	0.828
18	19080604	G	A	18	21500643	y	y	splicing	GREB1L(NM_001142966:exon23:c.4072+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3891+1G>A;ENST00000424526:exon23:c.4072+1G>A;ENST00000269218:exon22:c.3745+1G>A;ENST00000580732:exon23:c.4072+1G>A)	.	.	0.999986675681007	0.928
18	19080604	G	C	18	21500643	y	y	splicing	GREB1L(NM_001142966:exon23:c.4072+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3891+1G>C;ENST00000424526:exon23:c.4072+1G>C;ENST00000269218:exon22:c.3745+1G>C;ENST00000580732:exon23:c.4072+1G>C)	.	.	0.999986675681007	0.928
18	19080604	G	T	18	21500643	y	y	splicing	GREB1L(NM_001142966:exon23:c.4072+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3891+1G>T;ENST00000424526:exon23:c.4072+1G>T;ENST00000269218:exon22:c.3745+1G>T;ENST00000580732:exon23:c.4072+1G>T)	.	.	0.999986675681007	0.928
18	19080605	T	A	18	21500644	y	y	splicing	GREB1L(NM_001142966:exon23:c.4072+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3891+2T>A;ENST00000424526:exon23:c.4072+2T>A;ENST00000269218:exon22:c.3745+2T>A;ENST00000580732:exon23:c.4072+2T>A)	.	.	0.999990155693597	0.924
18	19080605	T	C	18	21500644	y	y	splicing	GREB1L(NM_001142966:exon23:c.4072+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3891+2T>C;ENST00000424526:exon23:c.4072+2T>C;ENST00000269218:exon22:c.3745+2T>C;ENST00000580732:exon23:c.4072+2T>C)	.	.	0.999937051575235	0.856
18	19080605	T	G	18	21500644	y	y	splicing	GREB1L(NM_001142966:exon23:c.4072+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon22:c.3891+2T>G;ENST00000424526:exon23:c.4072+2T>G;ENST00000269218:exon22:c.3745+2T>G;ENST00000580732:exon23:c.4072+2T>G)	.	.	0.999990155693597	0.924
18	19080606	G	A	18	21500645	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.49681379006624E-4	0.004
18	19080606	G	C	18	21500645	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.837494279701481	0.526
18	19080606	G	T	18	21500645	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.853137125958783	0.552
18	19080607	A	C	18	21500646	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.690816024704076	0.532
18	19080607	A	G	18	21500646	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.94807943797655	0.694
18	19080607	A	T	18	21500646	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.956499428592046	0.632
18	19080608	G	A	18	21500647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99644550040179	0.914
18	19080608	G	C	18	21500647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99929811176546	0.912
18	19080608	G	T	18	21500647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999099671423371	0.876
18	19080609	T	A	18	21500648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00280928813461119	0.062
18	19080609	T	C	18	21500648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00462414337810907	0.078
18	19080609	T	G	18	21500648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.23400833350846E-4	0.02
18	19080610	G	A	18	21500649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.81474896170976E-5	0.0
18	19080610	G	C	18	21500649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.17486155721189E-5	0.0
18	19080610	G	T	18	21500649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.78992142291779E-5	0.026
18	19080611	C	A	18	21500650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.68952365742707E-5	0.002
18	19080611	C	G	18	21500650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.41240305611944E-5	0.0
18	19080611	C	T	18	21500650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.68952365742707E-5	0.004
18	19085361	T	A	18	21505400	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00204664017173977	0.2
18	19085361	T	C	18	21505400	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.40820517914863E-4	0.036
18	19085361	T	G	18	21505400	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00222655472081714	0.204
18	19085362	T	A	18	21505401	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0325267326456587	0.532
18	19085362	T	C	18	21505401	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.83997813240606E-4	0.18
18	19085362	T	G	18	21505401	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00856974690453184	0.376
18	19085363	C	A	18	21505402	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0488605429250057	0.2
18	19085363	C	G	18	21505402	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0330466354024209	0.136
18	19085363	C	T	18	21505402	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0141638952459379	0.234
18	19085364	T	A	18	21505403	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00354758472752379	0.148
18	19085364	T	C	18	21505403	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.95210990595033E-5	0.052
18	19085364	T	G	18	21505403	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.75160552539605E-4	0.13
18	19085365	T	A	18	21505404	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999923782825899	0.962
18	19085365	T	C	18	21505404	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.02131239615164E-5	0.0
18	19085365	T	G	18	21505404	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00311975680103775	0.13
18	19085366	G	A	18	21505405	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00440135856601494	0.128
18	19085366	G	C	18	21505405	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.25487060152438E-4	0.022
18	19085366	G	T	18	21505405	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.87819244110231E-4	0.076
18	19085367	T	A	18	21505406	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.39357355504675E-4	0.05
18	19085367	T	C	18	21505406	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.36972515888122E-5	0.002
18	19085367	T	G	18	21505406	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00270524250020388	0.118
18	19085368	C	A	18	21505407	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0484765006069963	0.272
18	19085368	C	G	18	21505407	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0280046883775911	0.254
18	19085368	C	T	18	21505407	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.53515402175676E-4	0.014
18	19085369	C	A	18	21505408	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.07986027133284E-5	0.014
18	19085369	C	G	18	21505408	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.82791934881115E-4	0.004
18	19085369	C	T	18	21505408	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.31980312879517E-4	0.016
18	19085370	T	A	18	21505409	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.014564262265208	0.27
18	19085370	T	C	18	21505409	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.57041065259042E-5	0.0
18	19085370	T	G	18	21505409	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.900171199190554	0.684
18	19085371	A	C	18	21505410	y	y	splicing	GREB1L(NM_001142966:exon24:c.4073-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.3892-2A>C;ENST00000424526:exon24:c.4073-2A>C;ENST00000269218:exon23:c.3746-2A>C;ENST00000580732:exon24:c.4073-2A>C)	.	.	0.999978952611685	0.924
18	19085371	A	G	18	21505410	y	y	splicing	GREB1L(NM_001142966:exon24:c.4073-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.3892-2A>G;ENST00000424526:exon24:c.4073-2A>G;ENST00000269218:exon23:c.3746-2A>G;ENST00000580732:exon24:c.4073-2A>G)	.	.	0.999978952611685	0.928
18	19085371	A	T	18	21505410	y	y	splicing	GREB1L(NM_001142966:exon24:c.4073-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.3892-2A>T;ENST00000424526:exon24:c.4073-2A>T;ENST00000269218:exon23:c.3746-2A>T;ENST00000580732:exon24:c.4073-2A>T)	.	.	0.999988247793601	0.926
18	19085372	G	A	18	21505411	y	y	splicing	GREB1L(NM_001142966:exon24:c.4073-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.3892-1G>A;ENST00000424526:exon24:c.4073-1G>A;ENST00000269218:exon23:c.3746-1G>A;ENST00000580732:exon24:c.4073-1G>A)	.	.	0.999985532734767	0.934
18	19085372	G	C	18	21505411	y	y	splicing	GREB1L(NM_001142966:exon24:c.4073-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.3892-1G>C;ENST00000424526:exon24:c.4073-1G>C;ENST00000269218:exon23:c.3746-1G>C;ENST00000580732:exon24:c.4073-1G>C)	.	.	0.999985532734767	0.934
18	19085372	G	T	18	21505411	y	y	splicing	GREB1L(NM_001142966:exon24:c.4073-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.3892-1G>T;ENST00000424526:exon24:c.4073-1G>T;ENST00000269218:exon23:c.3746-1G>T;ENST00000580732:exon24:c.4073-1G>T)	.	.	0.999985532734767	0.934
18	19085373	A	C	18	21505412	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.A4073C:p.D1358A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4073C:p.D1358A;ENSG00000141449:ENST00000269218:exon23:c.A3746C:p.D1249A;ENSG00000141449:ENST00000424526:exon24:c.A4073C:p.D1358A;	0.0332332748255511	0.22
18	19085373	A	G	18	21505412	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.A4073G:p.D1358G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4073G:p.D1358G;ENSG00000141449:ENST00000269218:exon23:c.A3746G:p.D1249G;ENSG00000141449:ENST00000424526:exon24:c.A4073G:p.D1358G;	7.18866509336871E-4	0.014
18	19085373	A	T	18	21505412	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.A4073T:p.D1358V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4073T:p.D1358V;ENSG00000141449:ENST00000269218:exon23:c.A3746T:p.D1249V;ENSG00000141449:ENST00000424526:exon24:c.A4073T:p.D1358V;	0.196352421321022	0.484
18	19085374	T	A	18	21505413	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.T4074A:p.D1358E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.T4074A:p.D1358E;ENSG00000141449:ENST00000269218:exon23:c.T3747A:p.D1249E;ENSG00000141449:ENST00000424526:exon24:c.T4074A:p.D1358E;	0.00215857416242329	0.072
18	19085374	T	C	18	21505413	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon24:c.T4074C:p.D1358D;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.T4074C:p.D1358D;ENSG00000141449:ENST00000269218:exon23:c.T3747C:p.D1249D;ENSG00000141449:ENST00000424526:exon24:c.T4074C:p.D1358D;	1.77485414435505E-4	0.002
18	19085374	T	G	18	21505413	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.T4074G:p.D1358E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.T4074G:p.D1358E;ENSG00000141449:ENST00000269218:exon23:c.T3747G:p.D1249E;ENSG00000141449:ENST00000424526:exon24:c.T4074G:p.D1358E;	0.00221474157037166	0.056
18	19085526	A	C	18	21505565	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.A4226C:p.Q1409P;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4226C:p.Q1409P;ENSG00000141449:ENST00000269218:exon23:c.A3899C:p.Q1300P;ENSG00000141449:ENST00000424526:exon24:c.A4226C:p.Q1409P;	5.50878601498413E-5	0.002
18	19085526	A	G	18	21505565	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.A4226G:p.Q1409R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4226G:p.Q1409R;ENSG00000141449:ENST00000269218:exon23:c.A3899G:p.Q1300R;ENSG00000141449:ENST00000424526:exon24:c.A4226G:p.Q1409R;	5.35716034366039E-4	0.012
18	19085526	A	T	18	21505565	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.A4226T:p.Q1409L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4226T:p.Q1409L;ENSG00000141449:ENST00000269218:exon23:c.A3899T:p.Q1300L;ENSG00000141449:ENST00000424526:exon24:c.A4226T:p.Q1409L;	0.00946635790870219	0.396
18	19085527	A	C	18	21505566	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.A4227C:p.Q1409H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4227C:p.Q1409H;ENSG00000141449:ENST00000269218:exon23:c.A3900C:p.Q1300H;ENSG00000141449:ENST00000424526:exon24:c.A4227C:p.Q1409H;	0.997321213773736	0.966
18	19085527	A	G	18	21505566	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon24:c.A4227G:p.Q1409Q;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4227G:p.Q1409Q;ENSG00000141449:ENST00000269218:exon23:c.A3900G:p.Q1300Q;ENSG00000141449:ENST00000424526:exon24:c.A4227G:p.Q1409Q;	0.995576517763316	0.936
18	19085527	A	T	18	21505566	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.A4227T:p.Q1409H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.A4227T:p.Q1409H;ENSG00000141449:ENST00000269218:exon23:c.A3900T:p.Q1300H;ENSG00000141449:ENST00000424526:exon24:c.A4227T:p.Q1409H;	0.999323412628925	0.976
18	19085528	G	A	18	21505567	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.G4228A:p.E1410K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.G4228A:p.E1410K;ENSG00000141449:ENST00000269218:exon23:c.G3901A:p.E1301K;ENSG00000141449:ENST00000424526:exon24:c.G4228A:p.E1410K;	0.999987543087239	0.996
18	19085528	G	C	18	21505567	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon24:c.G4228C:p.E1410Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon24:c.G4228C:p.E1410Q;ENSG00000141449:ENST00000269218:exon23:c.G3901C:p.E1301Q;ENSG00000141449:ENST00000424526:exon24:c.G4228C:p.E1410Q;	0.999995787078083	1.0
18	19085528	G	T	18	21505567	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon24:c.G4228T:p.E1410X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon24:c.G4228T:p.E1410X;ENSG00000141449:ENST00000269218:exon23:c.G3901T:p.E1301X;ENSG00000141449:ENST00000424526:exon24:c.G4228T:p.E1410X;	0.999986620647273	1.0
18	19085529	G	A	18	21505568	y	y	splicing	GREB1L(NM_001142966:exon24:c.4228+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.4047+1G>A;ENST00000424526:exon24:c.4228+1G>A;ENST00000269218:exon23:c.3901+1G>A;ENST00000580732:exon24:c.4228+1G>A)	.	.	0.999985532734767	0.936
18	19085529	G	C	18	21505568	y	y	splicing	GREB1L(NM_001142966:exon24:c.4228+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.4047+1G>C;ENST00000424526:exon24:c.4228+1G>C;ENST00000269218:exon23:c.3901+1G>C;ENST00000580732:exon24:c.4228+1G>C)	.	.	0.999985532734767	0.936
18	19085529	G	T	18	21505568	y	y	splicing	GREB1L(NM_001142966:exon24:c.4228+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.4047+1G>T;ENST00000424526:exon24:c.4228+1G>T;ENST00000269218:exon23:c.3901+1G>T;ENST00000580732:exon24:c.4228+1G>T)	.	.	0.999985532734767	0.936
18	19085530	T	A	18	21505569	y	y	splicing	GREB1L(NM_001142966:exon24:c.4228+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.4047+2T>A;ENST00000424526:exon24:c.4228+2T>A;ENST00000269218:exon23:c.3901+2T>A;ENST00000580732:exon24:c.4228+2T>A)	.	.	0.999988247793601	0.928
18	19085530	T	C	18	21505569	y	y	splicing	GREB1L(NM_001142966:exon24:c.4228+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.4047+2T>C;ENST00000424526:exon24:c.4228+2T>C;ENST00000269218:exon23:c.3901+2T>C;ENST00000580732:exon24:c.4228+2T>C)	.	.	0.99340600729494	0.68
18	19085530	T	G	18	21505569	y	y	splicing	GREB1L(NM_001142966:exon24:c.4228+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon23:c.4047+2T>G;ENST00000424526:exon24:c.4228+2T>G;ENST00000269218:exon23:c.3901+2T>G;ENST00000580732:exon24:c.4228+2T>G)	.	.	0.999988247793601	0.928
18	19085531	C	A	18	21505570	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.15049959119711E-4	0.048
18	19085531	C	G	18	21505570	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.02324805524122E-5	0.05
18	19085531	C	T	18	21505570	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.4345548254863E-4	0.008
18	19085532	A	C	18	21505571	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.712312871545051	0.55
18	19085532	A	G	18	21505571	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.144859838285441	0.356
18	19085532	A	T	18	21505571	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.574413295579495	0.514
18	19085533	G	A	18	21505572	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998999417879562	0.952
18	19085533	G	C	18	21505572	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996852169149442	0.554
18	19085533	G	T	18	21505572	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998992363097516	0.838
18	19085534	T	A	18	21505573	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.148608226971481	0.368
18	19085534	T	C	18	21505573	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.080003987529587	0.378
18	19085534	T	G	18	21505573	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0698370673477324	0.408
18	19085535	G	A	18	21505574	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.70474572935874E-4	0.108
18	19085535	G	C	18	21505574	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.70474572935874E-4	0.02
18	19085535	G	T	18	21505574	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.69264501176613E-4	0.034
18	19085536	C	A	18	21505575	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.31931207759325E-4	0.0
18	19085536	C	G	18	21505575	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.97866841012334E-4	0.0
18	19085536	C	T	18	21505575	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.31931207759325E-4	0.0
18	19085759	C	A	18	21505798	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.39736287842847E-4	0.11
18	19085759	C	G	18	21505798	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.62265963236797E-4	0.128
18	19085759	C	T	18	21505798	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.50460416918823E-4	0.086
18	19085760	T	A	18	21505799	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999827961479078	0.974
18	19085760	T	C	18	21505799	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.966341426275194	0.75
18	19085760	T	G	18	21505799	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99957757020362	0.942
18	19085761	T	A	18	21505800	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998131116715768	0.91
18	19085761	T	C	18	21505800	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0570206583544785	0.304
18	19085761	T	G	18	21505800	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996796209577055	0.864
18	19085762	T	A	18	21505801	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997449947741361	0.788
18	19085762	T	C	18	21505801	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0620725454473448	0.378
18	19085762	T	G	18	21505801	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.9991821222943	0.918
18	19085763	A	C	18	21505802	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.50982535195462E-5	0.03
18	19085763	A	G	18	21505802	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.21231275728817E-5	0.018
18	19085763	A	T	18	21505802	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.12359801087648E-5	0.016
18	19085764	T	A	18	21505803	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.995231583631276	0.94
18	19085764	T	C	18	21505803	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00285258178494725	0.178
18	19085764	T	G	18	21505803	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999941157945602	0.99
18	19085765	A	C	18	21505804	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.10693895191383E-4	0.052
18	19085765	A	G	18	21505804	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.6773068372001E-4	0.01
18	19085765	A	T	18	21505804	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.51721546448901E-5	0.032
18	19085766	C	A	18	21505805	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00136203728542944	0.094
18	19085766	C	G	18	21505805	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999937900792968	0.964
18	19085766	C	T	18	21505805	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.96492534241299E-5	0.004
18	19085767	A	C	18	21505806	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.36394362265083E-5	0.102
18	19085767	A	G	18	21505806	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.90615238414109E-4	0.106
18	19085767	A	T	18	21505806	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.43124480033027E-4	0.072
18	19085768	C	A	18	21505807	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.975466644958414	0.846
18	19085768	C	G	18	21505807	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999873411881338	0.868
18	19085768	C	T	18	21505807	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0155520458426501	0.098
18	19085769	A	C	18	21505808	y	y	splicing	GREB1L(NM_001142966:exon25:c.4229-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4048-2A>C;ENST00000424526:exon25:c.4229-2A>C;ENST00000269218:exon24:c.3902-2A>C;ENST00000580732:exon25:c.4229-2A>C)	.	.	0.999986741007567	0.944
18	19085769	A	G	18	21505808	y	y	splicing	GREB1L(NM_001142966:exon25:c.4229-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4048-2A>G;ENST00000424526:exon25:c.4229-2A>G;ENST00000269218:exon24:c.3902-2A>G;ENST00000580732:exon25:c.4229-2A>G)	.	.	0.999986741007567	0.944
18	19085769	A	T	18	21505808	y	y	splicing	GREB1L(NM_001142966:exon25:c.4229-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4048-2A>T;ENST00000424526:exon25:c.4229-2A>T;ENST00000269218:exon24:c.3902-2A>T;ENST00000580732:exon25:c.4229-2A>T)	.	.	0.999986741007567	0.944
18	19085770	G	A	18	21505809	y	y	splicing	GREB1L(NM_001142966:exon25:c.4229-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4048-1G>A;ENST00000424526:exon25:c.4229-1G>A;ENST00000269218:exon24:c.3902-1G>A;ENST00000580732:exon25:c.4229-1G>A)	.	.	0.999983677848485	0.942
18	19085770	G	C	18	21505809	y	y	splicing	GREB1L(NM_001142966:exon25:c.4229-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4048-1G>C;ENST00000424526:exon25:c.4229-1G>C;ENST00000269218:exon24:c.3902-1G>C;ENST00000580732:exon25:c.4229-1G>C)	.	.	0.999983677848485	0.942
18	19085770	G	T	18	21505809	y	y	splicing	GREB1L(NM_001142966:exon25:c.4229-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4048-1G>T;ENST00000424526:exon25:c.4229-1G>T;ENST00000269218:exon24:c.3902-1G>T;ENST00000580732:exon25:c.4229-1G>T)	.	.	0.999983677848485	0.942
18	19085771	A	C	18	21505810	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.A4229C:p.E1410A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4229C:p.E1410A;ENSG00000141449:ENST00000269218:exon24:c.A3902C:p.E1301A;ENSG00000141449:ENST00000424526:exon25:c.A4229C:p.E1410A;	0.70356078439647	0.568
18	19085771	A	G	18	21505810	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.A4229G:p.E1410G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4229G:p.E1410G;ENSG00000141449:ENST00000269218:exon24:c.A3902G:p.E1301G;ENSG00000141449:ENST00000424526:exon25:c.A4229G:p.E1410G;	0.553957855560834	0.404
18	19085771	A	T	18	21505810	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.A4229T:p.E1410V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4229T:p.E1410V;ENSG00000141449:ENST00000269218:exon24:c.A3902T:p.E1301V;ENSG00000141449:ENST00000424526:exon25:c.A4229T:p.E1410V;	0.809012711259072	0.566
18	19085772	A	C	18	21505811	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.A4230C:p.E1410D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4230C:p.E1410D;ENSG00000141449:ENST00000269218:exon24:c.A3903C:p.E1301D;ENSG00000141449:ENST00000424526:exon25:c.A4230C:p.E1410D;	0.00330744388818684	0.06
18	19085772	A	G	18	21505811	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon25:c.A4230G:p.E1410E;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4230G:p.E1410E;ENSG00000141449:ENST00000269218:exon24:c.A3903G:p.E1301E;ENSG00000141449:ENST00000424526:exon25:c.A4230G:p.E1410E;	0.00277135360631192	0.018
18	19085772	A	T	18	21505811	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.A4230T:p.E1410D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4230T:p.E1410D;ENSG00000141449:ENST00000269218:exon24:c.A3903T:p.E1301D;ENSG00000141449:ENST00000424526:exon25:c.A4230T:p.E1410D;	0.00260350334305003	0.028
18	19085908	C	A	18	21505947	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.C4366A:p.Q1456K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.C4366A:p.Q1456K;ENSG00000141449:ENST00000269218:exon24:c.C4039A:p.Q1347K;ENSG00000141449:ENST00000424526:exon25:c.C4366A:p.Q1456K;	0.925742614732629	0.758
18	19085908	C	G	18	21505947	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.C4366G:p.Q1456E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.C4366G:p.Q1456E;ENSG00000141449:ENST00000269218:exon24:c.C4039G:p.Q1347E;ENSG00000141449:ENST00000424526:exon25:c.C4366G:p.Q1456E;	0.915409456523201	0.682
18	19085908	C	T	18	21505947	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon25:c.C4366T:p.Q1456X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon25:c.C4366T:p.Q1456X;ENSG00000141449:ENST00000269218:exon24:c.C4039T:p.Q1347X;ENSG00000141449:ENST00000424526:exon25:c.C4366T:p.Q1456X;	0.999864807735325	0.98
18	19085909	A	C	18	21505948	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.A4367C:p.Q1456P;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4367C:p.Q1456P;ENSG00000141449:ENST00000269218:exon24:c.A4040C:p.Q1347P;ENSG00000141449:ENST00000424526:exon25:c.A4367C:p.Q1456P;	0.99990419021239	1.0
18	19085909	A	G	18	21505948	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.A4367G:p.Q1456R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4367G:p.Q1456R;ENSG00000141449:ENST00000269218:exon24:c.A4040G:p.Q1347R;ENSG00000141449:ENST00000424526:exon25:c.A4367G:p.Q1456R;	0.999949184178785	0.988
18	19085909	A	T	18	21505948	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.A4367T:p.Q1456L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.A4367T:p.Q1456L;ENSG00000141449:ENST00000269218:exon24:c.A4040T:p.Q1347L;ENSG00000141449:ENST00000424526:exon25:c.A4367T:p.Q1456L;	0.999762145193179	0.992
18	19085910	G	A	18	21505949	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon25:c.G4368A:p.Q1456Q;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.G4368A:p.Q1456Q;ENSG00000141449:ENST00000269218:exon24:c.G4041A:p.Q1347Q;ENSG00000141449:ENST00000424526:exon25:c.G4368A:p.Q1456Q;	0.999977261754852	0.992
18	19085910	G	C	18	21505949	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.G4368C:p.Q1456H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.G4368C:p.Q1456H;ENSG00000141449:ENST00000269218:exon24:c.G4041C:p.Q1347H;ENSG00000141449:ENST00000424526:exon25:c.G4368C:p.Q1456H;	0.999996767810372	1.0
18	19085910	G	T	18	21505949	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon25:c.G4368T:p.Q1456H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon25:c.G4368T:p.Q1456H;ENSG00000141449:ENST00000269218:exon24:c.G4041T:p.Q1347H;ENSG00000141449:ENST00000424526:exon25:c.G4368T:p.Q1456H;	0.999992895158708	1.0
18	19085911	G	A	18	21505950	y	y	splicing	GREB1L(NM_001142966:exon25:c.4368+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4187+1G>A;ENST00000424526:exon25:c.4368+1G>A;ENST00000269218:exon24:c.4041+1G>A;ENST00000580732:exon25:c.4368+1G>A)	.	.	0.999985532734767	0.934
18	19085911	G	C	18	21505950	y	y	splicing	GREB1L(NM_001142966:exon25:c.4368+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4187+1G>C;ENST00000424526:exon25:c.4368+1G>C;ENST00000269218:exon24:c.4041+1G>C;ENST00000580732:exon25:c.4368+1G>C)	.	.	0.999985532734767	0.934
18	19085911	G	T	18	21505950	y	y	splicing	GREB1L(NM_001142966:exon25:c.4368+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4187+1G>T;ENST00000424526:exon25:c.4368+1G>T;ENST00000269218:exon24:c.4041+1G>T;ENST00000580732:exon25:c.4368+1G>T)	.	.	0.999985532734767	0.934
18	19085912	T	A	18	21505951	y	y	splicing	GREB1L(NM_001142966:exon25:c.4368+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4187+2T>A;ENST00000424526:exon25:c.4368+2T>A;ENST00000269218:exon24:c.4041+2T>A;ENST00000580732:exon25:c.4368+2T>A)	.	.	0.999988247793601	0.922
18	19085912	T	C	18	21505951	y	y	splicing	GREB1L(NM_001142966:exon25:c.4368+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4187+2T>C;ENST00000424526:exon25:c.4368+2T>C;ENST00000269218:exon24:c.4041+2T>C;ENST00000580732:exon25:c.4368+2T>C)	.	.	0.98918007292081	0.62
18	19085912	T	G	18	21505951	y	y	splicing	GREB1L(NM_001142966:exon25:c.4368+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon24:c.4187+2T>G;ENST00000424526:exon25:c.4368+2T>G;ENST00000269218:exon24:c.4041+2T>G;ENST00000580732:exon25:c.4368+2T>G)	.	.	0.999988247793601	0.926
18	19085913	A	C	18	21505952	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.993928387135271	0.75
18	19085913	A	G	18	21505952	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.120886719145907	0.366
18	19085913	A	T	18	21505952	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998499696077697	0.714
18	19085914	C	A	18	21505953	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.09097144555399E-4	0.098
18	19085914	C	G	18	21505953	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00139031261757928	0.102
18	19085914	C	T	18	21505953	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00216768686427	0.144
18	19085915	C	A	18	21505954	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.14121084000826E-5	0.006
18	19085915	C	G	18	21505954	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.76381301997451E-5	0.014
18	19085915	C	T	18	21505954	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.65361434676689E-5	0.0
18	19085916	A	C	18	21505955	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.31431996724186E-4	0.042
18	19085916	A	G	18	21505955	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.03178717793245E-5	0.004
18	19085916	A	T	18	21505955	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.4442549248413E-5	0.032
18	19085917	T	A	18	21505956	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.05153672947683E-5	0.0
18	19085917	T	C	18	21505956	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.45307536862929E-5	0.0
18	19085917	T	G	18	21505956	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.45307536862929E-5	0.0
18	19085918	C	A	18	21505957	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.49563227632644E-5	0.028
18	19085918	C	G	18	21505957	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.49563227632644E-5	0.022
18	19085918	C	T	18	21505957	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.25392017004655E-5	0.004
18	19088067	T	A	18	21508106	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.639080548399037	0.506
18	19088067	T	C	18	21508106	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.84902180455393E-5	0.132
18	19088067	T	G	18	21508106	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.555577401936901	0.49
18	19088068	T	A	18	21508107	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999991452582176	0.912
18	19088068	T	C	18	21508107	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0312416413109352	0.252
18	19088068	T	G	18	21508107	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99065899413993	0.748
18	19088069	G	A	18	21508108	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0309739030762517	0.208
18	19088069	G	C	18	21508108	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0338215331227355	0.43
18	19088069	G	T	18	21508108	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0456343617093979	0.536
18	19088070	C	A	18	21508109	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.206042365739777	0.332
18	19088070	C	G	18	21508109	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.516217694867486	0.374
18	19088070	C	T	18	21508109	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0401863911199162	0.326
18	19088071	A	C	18	21508110	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.69626924442352E-4	0.012
18	19088071	A	G	18	21508110	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00178720313261033	0.024
18	19088071	A	T	18	21508110	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.69626924442352E-4	0.028
18	19088072	A	C	18	21508111	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.63406531449749E-4	0.022
18	19088072	A	G	18	21508111	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999512973520187	0.984
18	19088072	A	T	18	21508111	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.63406531449749E-4	0.036
18	19088073	A	C	18	21508112	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.88514065771471E-4	0.17
18	19088073	A	G	18	21508112	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998610366922172	0.948
18	19088073	A	T	18	21508112	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00328851225005482	0.168
18	19088074	T	A	18	21508113	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996829136756346	0.84
18	19088074	T	C	18	21508113	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00158708004669768	0.142
18	19088074	T	G	18	21508113	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999508921308335	0.854
18	19088075	G	A	18	21508114	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.01596033376097E-4	0.17
18	19088075	G	C	18	21508114	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.21610947558347E-5	0.02
18	19088075	G	T	18	21508114	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.6725110124358E-5	0.166
18	19088076	T	A	18	21508115	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.117376026691843	0.416
18	19088076	T	C	18	21508115	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.99721910917451E-5	0.004
18	19088076	T	G	18	21508115	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.972578330840027	0.582
18	19088077	A	C	18	21508116	y	y	splicing	GREB1L(NM_001142966:exon26:c.4369-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4188-2A>C;ENST00000424526:exon26:c.4369-2A>C;ENST00000269218:exon25:c.4042-2A>C;ENST00000580732:exon26:c.4369-2A>C)	.	.	0.999986741007567	0.936
18	19088077	A	G	18	21508116	y	y	splicing	GREB1L(NM_001142966:exon26:c.4369-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4188-2A>G;ENST00000424526:exon26:c.4369-2A>G;ENST00000269218:exon25:c.4042-2A>G;ENST00000580732:exon26:c.4369-2A>G)	.	.	0.999986741007567	0.936
18	19088077	A	T	18	21508116	y	y	splicing	GREB1L(NM_001142966:exon26:c.4369-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4188-2A>T;ENST00000424526:exon26:c.4369-2A>T;ENST00000269218:exon25:c.4042-2A>T;ENST00000580732:exon26:c.4369-2A>T)	.	.	0.999986741007567	0.936
18	19088078	G	A	18	21508117	y	y	splicing	GREB1L(NM_001142966:exon26:c.4369-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4188-1G>A;ENST00000424526:exon26:c.4369-1G>A;ENST00000269218:exon25:c.4042-1G>A;ENST00000580732:exon26:c.4369-1G>A)	.	.	0.999984967332678	0.938
18	19088078	G	C	18	21508117	y	y	splicing	GREB1L(NM_001142966:exon26:c.4369-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4188-1G>C;ENST00000424526:exon26:c.4369-1G>C;ENST00000269218:exon25:c.4042-1G>C;ENST00000580732:exon26:c.4369-1G>C)	.	.	0.999984967332678	0.938
18	19088078	G	T	18	21508117	y	y	splicing	GREB1L(NM_001142966:exon26:c.4369-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4188-1G>T;ENST00000424526:exon26:c.4369-1G>T;ENST00000269218:exon25:c.4042-1G>T;ENST00000580732:exon26:c.4369-1G>T)	.	.	0.999984967332678	0.938
18	19088079	A	C	18	21508118	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.A4369C:p.M1457L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.A4369C:p.M1457L;ENSG00000141449:ENST00000269218:exon25:c.A4042C:p.M1348L;ENSG00000141449:ENST00000424526:exon26:c.A4369C:p.M1457L;	0.00738996688115729	0.17
18	19088079	A	G	18	21508118	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.A4369G:p.M1457V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.A4369G:p.M1457V;ENSG00000141449:ENST00000269218:exon25:c.A4042G:p.M1348V;ENSG00000141449:ENST00000424526:exon26:c.A4369G:p.M1457V;	9.47436057439338E-4	0.034
18	19088079	A	T	18	21508118	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.A4369T:p.M1457L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.A4369T:p.M1457L;ENSG00000141449:ENST00000269218:exon25:c.A4042T:p.M1348L;ENSG00000141449:ENST00000424526:exon26:c.A4369T:p.M1457L;	0.00545551377589106	0.192
18	19088080	T	A	18	21508119	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.T4370A:p.M1457K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.T4370A:p.M1457K;ENSG00000141449:ENST00000269218:exon25:c.T4043A:p.M1348K;ENSG00000141449:ENST00000424526:exon26:c.T4370A:p.M1457K;	0.504172097655578	0.384
18	19088080	T	C	18	21508119	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.T4370C:p.M1457T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.T4370C:p.M1457T;ENSG00000141449:ENST00000269218:exon25:c.T4043C:p.M1348T;ENSG00000141449:ENST00000424526:exon26:c.T4370C:p.M1457T;	0.0221790234460941	0.182
18	19088080	T	G	18	21508119	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.T4370G:p.M1457R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.T4370G:p.M1457R;ENSG00000141449:ENST00000269218:exon25:c.T4043G:p.M1348R;ENSG00000141449:ENST00000424526:exon26:c.T4370G:p.M1457R;	0.609170710781414	0.39
18	19088238	A	C	18	21508277	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.A4528C:p.K1510Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.A4528C:p.K1510Q;ENSG00000141449:ENST00000269218:exon25:c.A4201C:p.K1401Q;ENSG00000141449:ENST00000424526:exon26:c.A4528C:p.K1510Q;	0.659654676281668	0.632
18	19088238	A	G	18	21508277	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.A4528G:p.K1510E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.A4528G:p.K1510E;ENSG00000141449:ENST00000269218:exon25:c.A4201G:p.K1401E;ENSG00000141449:ENST00000424526:exon26:c.A4528G:p.K1510E;	0.271266144231622	0.422
18	19088238	A	T	18	21508277	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon26:c.A4528T:p.K1510X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon26:c.A4528T:p.K1510X;ENSG00000141449:ENST00000269218:exon25:c.A4201T:p.K1401X;ENSG00000141449:ENST00000424526:exon26:c.A4528T:p.K1510X;	0.971307153708286	0.694
18	19088239	A	C	18	21508278	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.A4529C:p.K1510T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.A4529C:p.K1510T;ENSG00000141449:ENST00000269218:exon25:c.A4202C:p.K1401T;ENSG00000141449:ENST00000424526:exon26:c.A4529C:p.K1510T;	0.999621389544129	0.936
18	19088239	A	G	18	21508278	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.A4529G:p.K1510R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.A4529G:p.K1510R;ENSG00000141449:ENST00000269218:exon25:c.A4202G:p.K1401R;ENSG00000141449:ENST00000424526:exon26:c.A4529G:p.K1510R;	0.99992799961295	0.986
18	19088239	A	T	18	21508278	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.A4529T:p.K1510M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.A4529T:p.K1510M;ENSG00000141449:ENST00000269218:exon25:c.A4202T:p.K1401M;ENSG00000141449:ENST00000424526:exon26:c.A4529T:p.K1510M;	0.999831801619624	0.976
18	19088240	G	A	18	21508279	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon26:c.G4530A:p.K1510K;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.G4530A:p.K1510K;ENSG00000141449:ENST00000269218:exon25:c.G4203A:p.K1401K;ENSG00000141449:ENST00000424526:exon26:c.G4530A:p.K1510K;	0.999801321901795	0.998
18	19088240	G	C	18	21508279	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.G4530C:p.K1510N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.G4530C:p.K1510N;ENSG00000141449:ENST00000269218:exon25:c.G4203C:p.K1401N;ENSG00000141449:ENST00000424526:exon26:c.G4530C:p.K1510N;	0.999994489789114	1.0
18	19088240	G	T	18	21508279	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon26:c.G4530T:p.K1510N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon26:c.G4530T:p.K1510N;ENSG00000141449:ENST00000269218:exon25:c.G4203T:p.K1401N;ENSG00000141449:ENST00000424526:exon26:c.G4530T:p.K1510N;	0.999971544597082	1.0
18	19088241	G	A	18	21508280	y	y	splicing	GREB1L(NM_001142966:exon26:c.4530+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4349+1G>A;ENST00000424526:exon26:c.4530+1G>A;ENST00000269218:exon25:c.4203+1G>A;ENST00000580732:exon26:c.4530+1G>A)	.	.	0.999993288802665	0.932
18	19088241	G	C	18	21508280	y	y	splicing	GREB1L(NM_001142966:exon26:c.4530+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4349+1G>C;ENST00000424526:exon26:c.4530+1G>C;ENST00000269218:exon25:c.4203+1G>C;ENST00000580732:exon26:c.4530+1G>C)	.	.	0.999993288802665	0.932
18	19088241	G	T	18	21508280	y	y	splicing	GREB1L(NM_001142966:exon26:c.4530+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4349+1G>T;ENST00000424526:exon26:c.4530+1G>T;ENST00000269218:exon25:c.4203+1G>T;ENST00000580732:exon26:c.4530+1G>T)	.	.	0.999993288802665	0.932
18	19088242	T	A	18	21508281	y	y	splicing	GREB1L(NM_001142966:exon26:c.4530+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4349+2T>A;ENST00000424526:exon26:c.4530+2T>A;ENST00000269218:exon25:c.4203+2T>A;ENST00000580732:exon26:c.4530+2T>A)	.	.	0.999988247793601	0.928
18	19088242	T	C	18	21508281	y	y	splicing	GREB1L(NM_001142966:exon26:c.4530+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4349+2T>C;ENST00000424526:exon26:c.4530+2T>C;ENST00000269218:exon25:c.4203+2T>C;ENST00000580732:exon26:c.4530+2T>C)	.	.	0.99991520749976	0.868
18	19088242	T	G	18	21508281	y	y	splicing	GREB1L(NM_001142966:exon26:c.4530+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon25:c.4349+2T>G;ENST00000424526:exon26:c.4530+2T>G;ENST00000269218:exon25:c.4203+2T>G;ENST00000580732:exon26:c.4530+2T>G)	.	.	0.999988247793601	0.928
18	19088243	G	A	18	21508282	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00121279638824594	0.054
18	19088243	G	C	18	21508282	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.564088700363868	0.7
18	19088243	G	T	18	21508282	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.159004248976932	0.594
18	19088244	G	A	18	21508283	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0013669212185407	0.058
18	19088244	G	C	18	21508283	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0056990888119266	0.212
18	19088244	G	T	18	21508283	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0143180836439566	0.148
18	19088245	G	A	18	21508284	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996662416452949	0.968
18	19088245	G	C	18	21508284	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999919901904961	0.968
18	19088245	G	T	18	21508284	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999423650919121	0.926
18	19088246	T	A	18	21508285	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.6371412360243	0.44
18	19088246	T	C	18	21508285	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.131965042140708	0.28
18	19088246	T	G	18	21508285	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.456585677722146	0.416
18	19088247	G	A	18	21508286	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.71373491323931E-5	0.0
18	19088247	G	C	18	21508286	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.61944226810758E-5	0.0
18	19088247	G	T	18	21508286	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.14903398594268E-4	0.0
18	19088248	A	C	18	21508287	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.22249785751592E-4	0.0
18	19088248	A	G	18	21508287	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.87513871295971E-4	0.06
18	19088248	A	T	18	21508287	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.13437739914617E-5	0.0
18	19088336	C	A	18	21508375	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00345646057290126	.
18	19088336	C	G	18	21508375	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00209139852479514	.
18	19088336	C	T	18	21508375	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.44222662989163E-5	.
18	19088337	C	A	18	21508376	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00436533205324685	.
18	19088337	C	G	18	21508376	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.08433781217488E-4	.
18	19088337	C	T	18	21508376	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.48317774729704E-5	.
18	19088338	C	A	18	21508377	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.68775042523496E-4	.
18	19088338	C	G	18	21508377	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.34582563573692E-4	.
18	19088338	C	T	18	21508377	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.22871048173854E-5	.
18	19088339	T	A	18	21508378	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0281031731354205	.
18	19088339	T	C	18	21508378	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.20646513889897E-4	.
18	19088339	T	G	18	21508378	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0135810800677127	.
18	19088340	T	A	18	21508379	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00691292203137365	.
18	19088340	T	C	18	21508379	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.12441370093695E-5	.
18	19088340	T	G	18	21508379	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.66941388685378E-4	.
18	19088341	T	A	18	21508380	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.178417190374592	.
18	19088341	T	C	18	21508380	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.59374522406036E-5	.
18	19088341	T	G	18	21508380	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.233600562995487	.
18	19088342	C	A	18	21508381	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0581892545000663	.
18	19088342	C	G	18	21508381	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0490171850792296	.
18	19088342	C	T	18	21508381	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.80202266792875E-4	.
18	19088343	A	C	18	21508382	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.9554967463977E-5	.
18	19088343	A	G	18	21508382	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.76362502011351E-5	.
18	19088343	A	T	18	21508382	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.9554967463977E-5	.
18	19088344	G	A	18	21508383	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.02771821582225E-4	.
18	19088344	G	C	18	21508383	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.81497792458382E-5	.
18	19088344	G	T	18	21508383	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.28769928710994E-4	.
18	19088345	C	A	18	21508384	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999585113484338	.
18	19088345	C	G	18	21508384	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999975612057532	.
18	19088345	C	T	18	21508384	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.776826611263961	.
18	19088346	A	C	18	21508385	y	y	splicing	GREB1L(NM_001142966:exon27:c.4531-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4350-2A>C;ENST00000424526:exon27:c.4531-2A>C;ENST00000269218:exon26:c.4204-2A>C;ENST00000580732:exon27:c.4531-2A>C)	.	.	0.999959852047835	.
18	19088346	A	G	18	21508385	y	y	splicing	GREB1L(NM_001142966:exon27:c.4531-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4350-2A>G;ENST00000424526:exon27:c.4531-2A>G;ENST00000269218:exon26:c.4204-2A>G;ENST00000580732:exon27:c.4531-2A>G)	.	.	0.999959852047835	.
18	19088346	A	T	18	21508385	y	y	splicing	GREB1L(NM_001142966:exon27:c.4531-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4350-2A>T;ENST00000424526:exon27:c.4531-2A>T;ENST00000269218:exon26:c.4204-2A>T;ENST00000580732:exon27:c.4531-2A>T)	.	.	0.999959852047835	.
18	19088347	G	A	18	21508386	y	y	splicing	GREB1L(NM_001142966:exon27:c.4531-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4350-1G>A;ENST00000424526:exon27:c.4531-1G>A;ENST00000269218:exon26:c.4204-1G>A;ENST00000580732:exon27:c.4531-1G>A)	.	.	0.999981775960152	.
18	19088347	G	C	18	21508386	y	y	splicing	GREB1L(NM_001142966:exon27:c.4531-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4350-1G>C;ENST00000424526:exon27:c.4531-1G>C;ENST00000269218:exon26:c.4204-1G>C;ENST00000580732:exon27:c.4531-1G>C)	.	.	0.999981775960152	.
18	19088347	G	T	18	21508386	y	y	splicing	GREB1L(NM_001142966:exon27:c.4531-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4350-1G>T;ENST00000424526:exon27:c.4531-1G>T;ENST00000269218:exon26:c.4204-1G>T;ENST00000580732:exon27:c.4531-1G>T)	.	.	0.999981775960152	.
18	19088348	A	C	18	21508387	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.A4531C:p.N1511H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.A4531C:p.N1511H;ENSG00000141449:ENST00000269218:exon26:c.A4204C:p.N1402H;ENSG00000141449:ENST00000424526:exon27:c.A4531C:p.N1511H;	0.0295238574489628	.
18	19088348	A	G	18	21508387	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.A4531G:p.N1511D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.A4531G:p.N1511D;ENSG00000141449:ENST00000269218:exon26:c.A4204G:p.N1402D;ENSG00000141449:ENST00000424526:exon27:c.A4531G:p.N1511D;	2.14489314022172E-4	.
18	19088348	A	T	18	21508387	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.A4531T:p.N1511Y;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.A4531T:p.N1511Y;ENSG00000141449:ENST00000269218:exon26:c.A4204T:p.N1402Y;ENSG00000141449:ENST00000424526:exon27:c.A4531T:p.N1511Y;	0.0295645323389166	.
18	19088349	A	C	18	21508388	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.A4532C:p.N1511T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.A4532C:p.N1511T;ENSG00000141449:ENST00000269218:exon26:c.A4205C:p.N1402T;ENSG00000141449:ENST00000424526:exon27:c.A4532C:p.N1511T;	0.892125380768318	.
18	19088349	A	G	18	21508388	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.A4532G:p.N1511S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.A4532G:p.N1511S;ENSG00000141449:ENST00000269218:exon26:c.A4205G:p.N1402S;ENSG00000141449:ENST00000424526:exon27:c.A4532G:p.N1511S;	0.0035827250324242	.
18	19088349	A	T	18	21508388	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.A4532T:p.N1511I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.A4532T:p.N1511I;ENSG00000141449:ENST00000269218:exon26:c.A4205T:p.N1402I;ENSG00000141449:ENST00000424526:exon27:c.A4532T:p.N1511I;	0.883112056677116	.
18	19088550	T	A	18	21508589	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.T4733A:p.V1578E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.T4733A:p.V1578E;ENSG00000141449:ENST00000269218:exon26:c.T4406A:p.V1469E;ENSG00000141449:ENST00000424526:exon27:c.T4733A:p.V1578E;	0.00353469286737167	0.262
18	19088550	T	C	18	21508589	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.T4733C:p.V1578A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.T4733C:p.V1578A;ENSG00000141449:ENST00000269218:exon26:c.T4406C:p.V1469A;ENSG00000141449:ENST00000424526:exon27:c.T4733C:p.V1578A;	0.00231364534697464	0.132
18	19088550	T	G	18	21508589	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.T4733G:p.V1578G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.T4733G:p.V1578G;ENSG00000141449:ENST00000269218:exon26:c.T4406G:p.V1469G;ENSG00000141449:ENST00000424526:exon27:c.T4733G:p.V1578G;	0.0181998796209921	0.254
18	19088551	G	A	18	21508590	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon27:c.G4734A:p.V1578V;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.G4734A:p.V1578V;ENSG00000141449:ENST00000269218:exon26:c.G4407A:p.V1469V;ENSG00000141449:ENST00000424526:exon27:c.G4734A:p.V1578V;	0.00509506522734532	0.102
18	19088551	G	C	18	21508590	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon27:c.G4734C:p.V1578V;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.G4734C:p.V1578V;ENSG00000141449:ENST00000269218:exon26:c.G4407C:p.V1469V;ENSG00000141449:ENST00000424526:exon27:c.G4734C:p.V1578V;	0.0108668688778749	0.076
18	19088551	G	T	18	21508590	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon27:c.G4734T:p.V1578V;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.G4734T:p.V1578V;ENSG00000141449:ENST00000269218:exon26:c.G4407T:p.V1469V;ENSG00000141449:ENST00000424526:exon27:c.G4734T:p.V1578V;	0.0132963697468345	0.062
18	19088552	G	A	18	21508591	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.G4735A:p.G1579S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.G4735A:p.G1579S;ENSG00000141449:ENST00000269218:exon26:c.G4408A:p.G1470S;ENSG00000141449:ENST00000424526:exon27:c.G4735A:p.G1579S;	0.999994868013052	1.0
18	19088552	G	C	18	21508591	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.G4735C:p.G1579R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.G4735C:p.G1579R;ENSG00000141449:ENST00000269218:exon26:c.G4408C:p.G1470R;ENSG00000141449:ENST00000424526:exon27:c.G4735C:p.G1579R;	0.999994609999027	0.994
18	19088552	G	T	18	21508591	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon27:c.G4735T:p.G1579C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon27:c.G4735T:p.G1579C;ENSG00000141449:ENST00000269218:exon26:c.G4408T:p.G1470C;ENSG00000141449:ENST00000424526:exon27:c.G4735T:p.G1579C;	0.999989195009869	1.0
18	19088553	G	A	18	21508592	y	y	splicing	GREB1L(NM_001142966:exon27:c.4735+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4554+1G>A;ENST00000424526:exon27:c.4735+1G>A;ENST00000269218:exon26:c.4408+1G>A;ENST00000580732:exon27:c.4735+1G>A)	.	.	0.999992425382947	0.942
18	19088553	G	C	18	21508592	y	y	splicing	GREB1L(NM_001142966:exon27:c.4735+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4554+1G>C;ENST00000424526:exon27:c.4735+1G>C;ENST00000269218:exon26:c.4408+1G>C;ENST00000580732:exon27:c.4735+1G>C)	.	.	0.999992425382947	0.942
18	19088553	G	T	18	21508592	y	y	splicing	GREB1L(NM_001142966:exon27:c.4735+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4554+1G>T;ENST00000424526:exon27:c.4735+1G>T;ENST00000269218:exon26:c.4408+1G>T;ENST00000580732:exon27:c.4735+1G>T)	.	.	0.999992425382947	0.942
18	19088554	T	A	18	21508593	y	y	splicing	GREB1L(NM_001142966:exon27:c.4735+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4554+2T>A;ENST00000424526:exon27:c.4735+2T>A;ENST00000269218:exon26:c.4408+2T>A;ENST00000580732:exon27:c.4735+2T>A)	.	.	0.999990764389106	0.944
18	19088554	T	C	18	21508593	y	y	splicing	GREB1L(NM_001142966:exon27:c.4735+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4554+2T>C;ENST00000424526:exon27:c.4735+2T>C;ENST00000269218:exon26:c.4408+2T>C;ENST00000580732:exon27:c.4735+2T>C)	.	.	0.999923041698277	0.902
18	19088554	T	G	18	21508593	y	y	splicing	GREB1L(NM_001142966:exon27:c.4735+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon26:c.4554+2T>G;ENST00000424526:exon27:c.4735+2T>G;ENST00000269218:exon26:c.4408+2T>G;ENST00000580732:exon27:c.4735+2T>G)	.	.	0.999990764389106	0.944
18	19088555	A	C	18	21508594	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999869911170503	0.99
18	19088555	A	G	18	21508594	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.992292973619802	0.71
18	19088555	A	T	18	21508594	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999854830877498	0.988
18	19088556	A	C	18	21508595	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99882628651005	0.95
18	19088556	A	G	18	21508595	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998677846557179	0.972
18	19088556	A	T	18	21508595	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999684053524978	0.946
18	19088557	G	A	18	21508596	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999679159735136	0.978
18	19088557	G	C	18	21508596	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999611735842805	0.976
18	19088557	G	T	18	21508596	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999675948060644	0.92
18	19088558	G	A	18	21508597	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.65515452201328E-4	0.052
18	19088558	G	C	18	21508597	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.55298694573543E-4	0.08
18	19088558	G	T	18	21508597	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.09207118216238E-4	0.032
18	19088559	G	A	18	21508598	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.24621798073404E-5	0.018
18	19088559	G	C	18	21508598	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.01598379391022E-4	0.02
18	19088559	G	T	18	21508598	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.14458884809559E-4	0.024
18	19088560	G	A	18	21508599	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.08159955735097E-4	0.106
18	19088560	G	C	18	21508599	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.07944944360183E-4	0.0
18	19088560	G	T	18	21508599	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.0867589956023E-4	0.016
18	19093770	G	A	18	21513809	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00980054367158873	0.072
18	19093770	G	C	18	21513809	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00174636525409939	0.07
18	19093770	G	T	18	21513809	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00187805414760818	0.064
18	19093771	T	A	18	21513810	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.961449700925089	0.604
18	19093771	T	C	18	21513810	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00204302513019572	0.19
18	19093771	T	G	18	21513810	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.944769199964467	0.558
18	19093772	T	A	18	21513811	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99995373036558	0.966
18	19093772	T	C	18	21513811	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.176638167177093	0.456
18	19093772	T	G	18	21513811	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998273466616978	0.884
18	19093773	G	A	18	21513812	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.992283322132935	0.77
18	19093773	G	C	18	21513812	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.957317523682655	0.728
18	19093773	G	T	18	21513812	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.957317523682655	0.652
18	19093774	C	A	18	21513813	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.403246452247739	0.396
18	19093774	C	G	18	21513813	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.212012718222847	0.314
18	19093774	C	T	18	21513813	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00436917818778505	0.078
18	19093775	C	A	18	21513814	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00764057422091289	0.084
18	19093775	C	G	18	21513814	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00774175575007704	0.072
18	19093775	C	T	18	21513814	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.80626501386963E-5	0.018
18	19093776	T	A	18	21513815	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.787870189836828	0.658
18	19093776	T	C	18	21513815	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.96903027809504E-5	0.018
18	19093776	T	G	18	21513815	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.915361550433476	0.716
18	19093777	T	A	18	21513816	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99819260703166	0.892
18	19093777	T	C	18	21513816	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.502397530295553	0.462
18	19093777	T	G	18	21513816	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997691207635267	0.88
18	19093778	C	A	18	21513817	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.00485090318214E-5	0.002
18	19093778	C	G	18	21513817	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.30255556511776E-5	0.004
18	19093778	C	T	18	21513817	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.40353055354592E-5	0.008
18	19093779	C	A	18	21513818	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.956845476648168	0.604
18	19093779	C	G	18	21513818	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.994155086569753	0.878
18	19093779	C	T	18	21513818	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00250323578040107	0.022
18	19093780	A	C	18	21513819	y	y	splicing	GREB1L(NM_001142966:exon28:c.4736-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4555-2A>C;ENST00000424526:exon28:c.4736-2A>C;ENST00000269218:exon27:c.4409-2A>C;ENST00000580732:exon28:c.4736-2A>C)	.	.	0.999988247793601	0.93
18	19093780	A	G	18	21513819	y	y	splicing	GREB1L(NM_001142966:exon28:c.4736-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4555-2A>G;ENST00000424526:exon28:c.4736-2A>G;ENST00000269218:exon27:c.4409-2A>G;ENST00000580732:exon28:c.4736-2A>G)	.	.	0.999988247793601	0.93
18	19093780	A	T	18	21513819	y	y	splicing	GREB1L(NM_001142966:exon28:c.4736-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4555-2A>T;ENST00000424526:exon28:c.4736-2A>T;ENST00000269218:exon27:c.4409-2A>T;ENST00000580732:exon28:c.4736-2A>T)	.	.	0.999988247793601	0.93
18	19093781	G	A	18	21513820	y	y	splicing	GREB1L(NM_001142966:exon28:c.4736-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4555-1G>A;ENST00000424526:exon28:c.4736-1G>A;ENST00000269218:exon27:c.4409-1G>A;ENST00000580732:exon28:c.4736-1G>A)	.	.	0.999990361384395	0.938
18	19093781	G	C	18	21513820	y	y	splicing	GREB1L(NM_001142966:exon28:c.4736-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4555-1G>C;ENST00000424526:exon28:c.4736-1G>C;ENST00000269218:exon27:c.4409-1G>C;ENST00000580732:exon28:c.4736-1G>C)	.	.	0.999990361384395	0.938
18	19093781	G	T	18	21513820	y	y	splicing	GREB1L(NM_001142966:exon28:c.4736-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4555-1G>T;ENST00000424526:exon28:c.4736-1G>T;ENST00000269218:exon27:c.4409-1G>T;ENST00000580732:exon28:c.4736-1G>T)	.	.	0.999990361384395	0.938
18	19093782	G	A	18	21513821	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.G4736A:p.G1579D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.G4736A:p.G1579D;ENSG00000141449:ENST00000269218:exon27:c.G4409A:p.G1470D;ENSG00000141449:ENST00000424526:exon28:c.G4736A:p.G1579D;	0.999211929458027	0.92
18	19093782	G	C	18	21513821	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.G4736C:p.G1579A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.G4736C:p.G1579A;ENSG00000141449:ENST00000269218:exon27:c.G4409C:p.G1470A;ENSG00000141449:ENST00000424526:exon28:c.G4736C:p.G1579A;	0.999759121839578	0.988
18	19093782	G	T	18	21513821	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.G4736T:p.G1579V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.G4736T:p.G1579V;ENSG00000141449:ENST00000269218:exon27:c.G4409T:p.G1470V;ENSG00000141449:ENST00000424526:exon28:c.G4736T:p.G1579V;	0.999700153928459	0.994
18	19093783	T	A	18	21513822	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon28:c.T4737A:p.G1579G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.T4737A:p.G1579G;ENSG00000141449:ENST00000269218:exon27:c.T4410A:p.G1470G;ENSG00000141449:ENST00000424526:exon28:c.T4737A:p.G1579G;	0.00910022546051517	0.148
18	19093783	T	C	18	21513822	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon28:c.T4737C:p.G1579G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.T4737C:p.G1579G;ENSG00000141449:ENST00000269218:exon27:c.T4410C:p.G1470G;ENSG00000141449:ENST00000424526:exon28:c.T4737C:p.G1579G;	0.00737176583361518	0.06
18	19093783	T	G	18	21513822	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon28:c.T4737G:p.G1579G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.T4737G:p.G1579G;ENSG00000141449:ENST00000269218:exon27:c.T4410G:p.G1470G;ENSG00000141449:ENST00000424526:exon28:c.T4737G:p.G1579G;	0.00358104398065818	0.032
18	19093945	C	A	18	21513984	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon28:c.C4899A:p.S1633S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.C4899A:p.S1633S;ENSG00000141449:ENST00000269218:exon27:c.C4572A:p.S1524S;ENSG00000141449:ENST00000424526:exon28:c.C4899A:p.S1633S;	1.02021003848258E-4	0.004
18	19093945	C	G	18	21513984	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon28:c.C4899G:p.S1633S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.C4899G:p.S1633S;ENSG00000141449:ENST00000269218:exon27:c.C4572G:p.S1524S;ENSG00000141449:ENST00000424526:exon28:c.C4899G:p.S1633S;	9.76727124903041E-4	0.112
18	19093945	C	T	18	21513984	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon28:c.C4899T:p.S1633S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.C4899T:p.S1633S;ENSG00000141449:ENST00000269218:exon27:c.C4572T:p.S1524S;ENSG00000141449:ENST00000424526:exon28:c.C4899T:p.S1633S;	0.128578594799019	0.5
18	19093946	A	C	18	21513985	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.A4900C:p.S1634R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.A4900C:p.S1634R;ENSG00000141449:ENST00000269218:exon27:c.A4573C:p.S1525R;ENSG00000141449:ENST00000424526:exon28:c.A4900C:p.S1634R;	0.995906961366259	0.908
18	19093946	A	G	18	21513985	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.A4900G:p.S1634G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.A4900G:p.S1634G;ENSG00000141449:ENST00000269218:exon27:c.A4573G:p.S1525G;ENSG00000141449:ENST00000424526:exon28:c.A4900G:p.S1634G;	0.999078292798907	0.944
18	19093946	A	T	18	21513985	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.A4900T:p.S1634C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.A4900T:p.S1634C;ENSG00000141449:ENST00000269218:exon27:c.A4573T:p.S1525C;ENSG00000141449:ENST00000424526:exon28:c.A4900T:p.S1634C;	0.999883427062009	0.986
18	19093947	G	A	18	21513986	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.G4901A:p.S1634N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.G4901A:p.S1634N;ENSG00000141449:ENST00000269218:exon27:c.G4574A:p.S1525N;ENSG00000141449:ENST00000424526:exon28:c.G4901A:p.S1634N;	0.999979993543591	0.992
18	19093947	G	C	18	21513986	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.G4901C:p.S1634T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.G4901C:p.S1634T;ENSG00000141449:ENST00000269218:exon27:c.G4574C:p.S1525T;ENSG00000141449:ENST00000424526:exon28:c.G4901C:p.S1634T;	0.999994760041065	0.994
18	19093947	G	T	18	21513986	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon28:c.G4901T:p.S1634I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon28:c.G4901T:p.S1634I;ENSG00000141449:ENST00000269218:exon27:c.G4574T:p.S1525I;ENSG00000141449:ENST00000424526:exon28:c.G4901T:p.S1634I;	0.999994341619526	0.992
18	19093948	G	A	18	21513987	y	y	splicing	GREB1L(NM_001142966:exon28:c.4901+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4720+1G>A;ENST00000424526:exon28:c.4901+1G>A;ENST00000269218:exon27:c.4574+1G>A;ENST00000580732:exon28:c.4901+1G>A;ENST00000580384:exon1:c.84+1G>A)	.	.	0.999964979301431	0.834
18	19093948	G	C	18	21513987	y	y	splicing	GREB1L(NM_001142966:exon28:c.4901+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4720+1G>C;ENST00000424526:exon28:c.4901+1G>C;ENST00000269218:exon27:c.4574+1G>C;ENST00000580732:exon28:c.4901+1G>C;ENST00000580384:exon1:c.84+1G>C)	.	.	0.999964979301431	0.798
18	19093948	G	T	18	21513987	y	y	splicing	GREB1L(NM_001142966:exon28:c.4901+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4720+1G>T;ENST00000424526:exon28:c.4901+1G>T;ENST00000269218:exon27:c.4574+1G>T;ENST00000580732:exon28:c.4901+1G>T;ENST00000580384:exon1:c.84+1G>T)	.	.	0.999964979301431	0.802
18	19093949	T	A	18	21513988	y	y	splicing	GREB1L(NM_001142966:exon28:c.4901+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4720+2T>A;ENST00000424526:exon28:c.4901+2T>A;ENST00000269218:exon27:c.4574+2T>A;ENST00000580732:exon28:c.4901+2T>A;ENST00000580384:exon1:c.84+2T>A)	.	.	0.999964896440643	0.934
18	19093949	T	C	18	21513988	y	y	splicing	GREB1L(NM_001142966:exon28:c.4901+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4720+2T>C;ENST00000424526:exon28:c.4901+2T>C;ENST00000269218:exon27:c.4574+2T>C;ENST00000580732:exon28:c.4901+2T>C;ENST00000580384:exon1:c.84+2T>C)	.	.	0.976410695893627	0.626
18	19093949	T	G	18	21513988	y	y	splicing	GREB1L(NM_001142966:exon28:c.4901+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon27:c.4720+2T>G;ENST00000424526:exon28:c.4901+2T>G;ENST00000269218:exon27:c.4574+2T>G;ENST00000580732:exon28:c.4901+2T>G;ENST00000580384:exon1:c.84+2T>G)	.	.	0.999963671976247	0.932
18	19093950	A	C	18	21513989	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999947694842299	0.934
18	19093950	A	G	18	21513989	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.968452895326132	0.744
18	19093950	A	T	18	21513989	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999890358236527	0.938
18	19093951	G	A	18	21513990	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.93449842487944E-5	0.02
18	19093951	G	C	18	21513990	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.97475211282835E-5	0.02
18	19093951	G	T	18	21513990	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.29325532076069E-5	0.006
18	19093952	A	C	18	21513991	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.734864231273E-4	0.004
18	19093952	A	G	18	21513991	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.9218037536552E-4	0.12
18	19093952	A	T	18	21513991	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.89858494868943E-4	0.01
18	19093953	C	A	18	21513992	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.40929954278178E-5	0.0
18	19093953	C	G	18	21513992	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.72418178510455E-5	0.004
18	19093953	C	T	18	21513992	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.06397513477595E-5	0.0
18	19093954	T	A	18	21513993	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.95330579525613E-5	0.002
18	19093954	T	C	18	21513993	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.45119024152005E-5	0.0
18	19093954	T	G	18	21513993	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.83788744528273E-5	0.002
18	19093955	T	A	18	21513994	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.16289205861175E-5	0.0
18	19093955	T	C	18	21513994	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.39342912773791E-4	0.004
18	19093955	T	G	18	21513994	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.39342912773791E-4	0.004
18	19095366	T	A	18	21515405	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.129619961035288	0.408
18	19095366	T	C	18	21515405	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.41558336518195E-4	0.03
18	19095366	T	G	18	21515405	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.537955215810617	0.524
18	19095367	A	C	18	21515406	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.67944982512943E-5	0.002
18	19095367	A	G	18	21515406	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.20341128277932E-5	0.006
18	19095367	A	T	18	21515406	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.71574138281445E-5	0.02
18	19095368	T	A	18	21515407	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0488002721340835	0.386
18	19095368	T	C	18	21515407	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00650900832984215	0.134
18	19095368	T	G	18	21515407	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999523392826503	0.854
18	19095369	A	C	18	21515408	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.8238332756418E-5	0.002
18	19095369	A	G	18	21515408	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.7342675601311E-5	0.006
18	19095369	A	T	18	21515408	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.53576968013836E-5	0.074
18	19095370	T	A	18	21515409	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.992222525624622	0.734
18	19095370	T	C	18	21515409	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.73751459767085E-4	0.2
18	19095370	T	G	18	21515409	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999923208687456	0.978
18	19095371	T	A	18	21515410	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.774510067059716	0.512
18	19095371	T	C	18	21515410	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00120601412071414	0.128
18	19095371	T	G	18	21515410	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.796531581521741	0.53
18	19095372	T	A	18	21515411	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.992119524175474	0.766
18	19095372	T	C	18	21515411	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.32109491669616E-4	0.112
18	19095372	T	G	18	21515411	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.994554604951578	0.712
18	19095373	C	A	18	21515412	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0424427409619052	0.164
18	19095373	C	G	18	21515412	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.125423289206627	0.188
18	19095373	C	T	18	21515412	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.05783752425072E-4	0.018
18	19095374	A	C	18	21515413	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.16832983221499E-4	0.04
18	19095374	A	G	18	21515413	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.68605037384404E-4	0.01
18	19095374	A	T	18	21515413	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	7.00851361926126E-4	0.002
18	19095375	T	A	18	21515414	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00555648405040241	0.266
18	19095375	T	C	18	21515414	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.17350036082819E-4	0.052
18	19095375	T	G	18	21515414	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.581112695135819	0.556
18	19095376	A	C	18	21515415	y	y	splicing	GREB1L(NM_001142966:exon29:c.4902-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4721-2A>C;ENST00000424526:exon29:c.4902-2A>C;ENST00000269218:exon28:c.4575-2A>C;ENST00000580732:exon29:c.4902-2A>C;ENST00000580384:exon2:c.85-2A>C)	.	.	0.99995820954749	0.864
18	19095376	A	G	18	21515415	y	y	splicing	GREB1L(NM_001142966:exon29:c.4902-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4721-2A>G;ENST00000424526:exon29:c.4902-2A>G;ENST00000269218:exon28:c.4575-2A>G;ENST00000580732:exon29:c.4902-2A>G;ENST00000580384:exon2:c.85-2A>G)	.	.	0.99995820954749	0.862
18	19095376	A	T	18	21515415	y	y	splicing	GREB1L(NM_001142966:exon29:c.4902-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4721-2A>T;ENST00000424526:exon29:c.4902-2A>T;ENST00000269218:exon28:c.4575-2A>T;ENST00000580732:exon29:c.4902-2A>T;ENST00000580384:exon2:c.85-2A>T)	.	.	0.999965314197099	0.872
18	19095377	G	A	18	21515416	y	y	splicing	GREB1L(NM_001142966:exon29:c.4902-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4721-1G>A;ENST00000424526:exon29:c.4902-1G>A;ENST00000269218:exon28:c.4575-1G>A;ENST00000580732:exon29:c.4902-1G>A;ENST00000580384:exon2:c.85-1G>A)	.	.	0.999971552192949	0.892
18	19095377	G	C	18	21515416	y	y	splicing	GREB1L(NM_001142966:exon29:c.4902-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4721-1G>C;ENST00000424526:exon29:c.4902-1G>C;ENST00000269218:exon28:c.4575-1G>C;ENST00000580732:exon29:c.4902-1G>C;ENST00000580384:exon2:c.85-1G>C)	.	.	0.999971552192949	0.878
18	19095377	G	T	18	21515416	y	y	splicing	GREB1L(NM_001142966:exon29:c.4902-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4721-1G>T;ENST00000424526:exon29:c.4902-1G>T;ENST00000269218:exon28:c.4575-1G>T;ENST00000580732:exon29:c.4902-1G>T;ENST00000580384:exon2:c.85-1G>T)	.	.	0.999971552192949	0.876
18	19095378	C	A	18	21515417	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.C4902A:p.S1634R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.C4902A:p.S1634R;ENSG00000141449:ENST00000269218:exon28:c.C4575A:p.S1525R;ENSG00000141449:ENST00000424526:exon29:c.C4902A:p.S1634R;	0.00122080162851044	0.08
18	19095378	C	G	18	21515417	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.C4902G:p.S1634R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.C4902G:p.S1634R;ENSG00000141449:ENST00000269218:exon28:c.C4575G:p.S1525R;ENSG00000141449:ENST00000424526:exon29:c.C4902G:p.S1634R;	0.00233657920380345	0.154
18	19095378	C	T	18	21515417	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon29:c.C4902T:p.S1634S;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.C4902T:p.S1634S;ENSG00000141449:ENST00000269218:exon28:c.C4575T:p.S1525S;ENSG00000141449:ENST00000424526:exon29:c.C4902T:p.S1634S;	0.00403914091621891	0.234
18	19095379	C	A	18	21515418	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.C4903A:p.Q1635K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.C4903A:p.Q1635K;ENSG00000141449:ENST00000269218:exon28:c.C4576A:p.Q1526K;ENSG00000141449:ENST00000424526:exon29:c.C4903A:p.Q1635K;	0.0579834791379905	0.238
18	19095379	C	G	18	21515418	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.C4903G:p.Q1635E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.C4903G:p.Q1635E;ENSG00000141449:ENST00000269218:exon28:c.C4576G:p.Q1526E;ENSG00000141449:ENST00000424526:exon29:c.C4903G:p.Q1635E;	0.00358063148935629	0.076
18	19095379	C	T	18	21515418	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon29:c.C4903T:p.Q1635X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon29:c.C4903T:p.Q1635X;ENSG00000141449:ENST00000269218:exon28:c.C4576T:p.Q1526X;ENSG00000141449:ENST00000424526:exon29:c.C4903T:p.Q1635X;	0.98628329272932	0.868
18	19095603	C	A	18	21515642	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.C5127A:p.N1709K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.C5127A:p.N1709K;ENSG00000141449:ENST00000269218:exon28:c.C4800A:p.N1600K;ENSG00000141449:ENST00000424526:exon29:c.C5127A:p.N1709K;	0.202887248777688	0.504
18	19095603	C	G	18	21515642	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.C5127G:p.N1709K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.C5127G:p.N1709K;ENSG00000141449:ENST00000269218:exon28:c.C4800G:p.N1600K;ENSG00000141449:ENST00000424526:exon29:c.C5127G:p.N1709K;	0.0929268205473124	0.376
18	19095603	C	T	18	21515642	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon29:c.C5127T:p.N1709N;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.C5127T:p.N1709N;ENSG00000141449:ENST00000269218:exon28:c.C4800T:p.N1600N;ENSG00000141449:ENST00000424526:exon29:c.C5127T:p.N1709N;	0.153342961149263	0.224
18	19095604	A	C	18	21515643	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon29:c.A5128C:p.R1710R;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.A5128C:p.R1710R;ENSG00000141449:ENST00000269218:exon28:c.A4801C:p.R1601R;ENSG00000141449:ENST00000424526:exon29:c.A5128C:p.R1710R;	0.95153010991389	0.634
18	19095604	A	G	18	21515643	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.A5128G:p.R1710G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.A5128G:p.R1710G;ENSG00000141449:ENST00000269218:exon28:c.A4801G:p.R1601G;ENSG00000141449:ENST00000424526:exon29:c.A5128G:p.R1710G;	0.988623093658023	0.704
18	19095604	A	T	18	21515643	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.A5128T:p.R1710W;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.A5128T:p.R1710W;ENSG00000141449:ENST00000269218:exon28:c.A4801T:p.R1601W;ENSG00000141449:ENST00000424526:exon29:c.A5128T:p.R1710W;	0.990567479551335	0.6
18	19095605	G	A	18	21515644	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.G5129A:p.R1710K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.G5129A:p.R1710K;ENSG00000141449:ENST00000269218:exon28:c.G4802A:p.R1601K;ENSG00000141449:ENST00000424526:exon29:c.G5129A:p.R1710K;	0.999779775129585	0.854
18	19095605	G	C	18	21515644	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.G5129C:p.R1710T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.G5129C:p.R1710T;ENSG00000141449:ENST00000269218:exon28:c.G4802C:p.R1601T;ENSG00000141449:ENST00000424526:exon29:c.G5129C:p.R1710T;	0.999822915927052	0.88
18	19095605	G	T	18	21515644	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon29:c.G5129T:p.R1710M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon29:c.G5129T:p.R1710M;ENSG00000141449:ENST00000269218:exon28:c.G4802T:p.R1601M;ENSG00000141449:ENST00000424526:exon29:c.G5129T:p.R1710M;	0.999756966117178	0.782
18	19095606	G	A	18	21515645	y	y	splicing	GREB1L(NM_001142966:exon29:c.5129+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4948+1G>A;ENST00000424526:exon29:c.5129+1G>A;ENST00000269218:exon28:c.4802+1G>A;ENST00000580732:exon29:c.5129+1G>A;ENST00000580384:exon2:c.312+1G>A)	.	.	0.999990361384395	0.938
18	19095606	G	C	18	21515645	y	y	splicing	GREB1L(NM_001142966:exon29:c.5129+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4948+1G>C;ENST00000424526:exon29:c.5129+1G>C;ENST00000269218:exon28:c.4802+1G>C;ENST00000580732:exon29:c.5129+1G>C;ENST00000580384:exon2:c.312+1G>C)	.	.	0.999990361384395	0.938
18	19095606	G	T	18	21515645	y	y	splicing	GREB1L(NM_001142966:exon29:c.5129+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4948+1G>T;ENST00000424526:exon29:c.5129+1G>T;ENST00000269218:exon28:c.4802+1G>T;ENST00000580732:exon29:c.5129+1G>T;ENST00000580384:exon2:c.312+1G>T)	.	.	0.999990361384395	0.938
18	19095607	T	A	18	21515646	y	y	splicing	GREB1L(NM_001142966:exon29:c.5129+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4948+2T>A;ENST00000424526:exon29:c.5129+2T>A;ENST00000269218:exon28:c.4802+2T>A;ENST00000580732:exon29:c.5129+2T>A;ENST00000580384:exon2:c.312+2T>A)	.	.	0.999988247793601	0.93
18	19095607	T	C	18	21515646	y	y	splicing	GREB1L(NM_001142966:exon29:c.5129+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4948+2T>C;ENST00000424526:exon29:c.5129+2T>C;ENST00000269218:exon28:c.4802+2T>C;ENST00000580732:exon29:c.5129+2T>C;ENST00000580384:exon2:c.312+2T>C)	.	.	0.996046924575706	0.718
18	19095607	T	G	18	21515646	y	y	splicing	GREB1L(NM_001142966:exon29:c.5129+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon28:c.4948+2T>G;ENST00000424526:exon29:c.5129+2T>G;ENST00000269218:exon28:c.4802+2T>G;ENST00000580732:exon29:c.5129+2T>G;ENST00000580384:exon2:c.312+2T>G)	.	.	0.999988247793601	0.93
18	19095608	A	C	18	21515647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.435091065078881	0.348
18	19095608	A	G	18	21515647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00828507313439114	0.1
18	19095608	A	T	18	21515647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.500025753511299	0.518
18	19095609	A	C	18	21515648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.164850430370516	0.25
18	19095609	A	G	18	21515648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0458647886412691	0.264
18	19095609	A	T	18	21515648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.109593278854595	0.228
18	19095610	G	A	18	21515649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999130718083918	0.796
18	19095610	G	C	18	21515649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997956053295153	0.73
18	19095610	G	T	18	21515649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998676500379714	0.776
18	19095611	T	A	18	21515650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00287519961662241	0.062
18	19095611	T	C	18	21515650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00416901519565727	0.042
18	19095611	T	G	18	21515650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.76592178172001E-4	0.04
18	19095612	C	A	18	21515651	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.76141340155682E-5	0.002
18	19095612	C	G	18	21515651	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.76141340155682E-5	0.002
18	19095612	C	T	18	21515651	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.15503469354121E-5	0.0
18	19095613	A	C	18	21515652	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.7357792130175E-4	0.0
18	19095613	A	G	18	21515652	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.7357792130175E-4	0.0
18	19095613	A	T	18	21515652	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.7357792130175E-4	0.0
18	19096562	G	A	18	21516601	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.98556151369328E-4	0.156
18	19096562	G	C	18	21516601	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.7880835488382E-5	0.076
18	19096562	G	T	18	21516601	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.40841426890348E-5	0.168
18	19096563	T	A	18	21516602	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997349698070918	0.926
18	19096563	T	C	18	21516602	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.971656261834131	0.806
18	19096563	T	G	18	21516602	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997349698070918	0.918
18	19096564	T	A	18	21516603	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.836675711020542	0.606
18	19096564	T	C	18	21516603	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.63901413620535E-4	0.19
18	19096564	T	G	18	21516603	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.9447518715481	0.702
18	19096565	A	C	18	21516604	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.83964705283732E-4	0.242
18	19096565	A	G	18	21516604	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.24401195190283E-4	0.138
18	19096565	A	T	18	21516604	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.83964705283732E-4	0.288
18	19096566	C	A	18	21516605	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00536425852798411	0.13
18	19096566	C	G	18	21516605	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999912022723366	0.968
18	19096566	C	T	18	21516605	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.36331827462177E-5	0.0
18	19096567	A	C	18	21516606	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.6142245456844E-5	0.018
18	19096567	A	G	18	21516606	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.28114984509451E-4	0.018
18	19096567	A	T	18	21516606	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.46011132549103E-5	0.02
18	19096568	A	C	18	21516607	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.08259273588449E-4	0.134
18	19096568	A	G	18	21516607	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999427412225671	0.946
18	19096568	A	T	18	21516607	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00455481313149576	0.17
18	19096569	T	A	18	21516608	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999811809569006	0.952
18	19096569	T	C	18	21516608	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.938248889934412	0.648
18	19096569	T	G	18	21516608	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999970531441923	0.976
18	19096570	T	A	18	21516609	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00286468696476605	0.1
18	19096570	T	C	18	21516609	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.44397153816776E-5	0.014
18	19096570	T	G	18	21516609	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.71942303337449E-4	0.07
18	19096571	T	A	18	21516610	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.803115831288803	0.53
18	19096571	T	C	18	21516610	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.55717072403594E-4	0.12
18	19096571	T	G	18	21516610	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.995844581096057	0.728
18	19096572	A	C	18	21516611	y	y	splicing	GREB1L(NM_001142966:exon30:c.5130-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.4949-2A>C;ENST00000424526:exon30:c.5130-2A>C;ENST00000269218:exon29:c.4803-2A>C;ENST00000580732:exon30:c.5130-2A>C;ENST00000580384:exon3:c.313-2A>C)	.	.	0.999986741007567	0.946
18	19096572	A	G	18	21516611	y	y	splicing	GREB1L(NM_001142966:exon30:c.5130-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.4949-2A>G;ENST00000424526:exon30:c.5130-2A>G;ENST00000269218:exon29:c.4803-2A>G;ENST00000580732:exon30:c.5130-2A>G;ENST00000580384:exon3:c.313-2A>G)	.	.	0.999986741007567	0.946
18	19096572	A	T	18	21516611	y	y	splicing	GREB1L(NM_001142966:exon30:c.5130-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.4949-2A>T;ENST00000424526:exon30:c.5130-2A>T;ENST00000269218:exon29:c.4803-2A>T;ENST00000580732:exon30:c.5130-2A>T;ENST00000580384:exon3:c.313-2A>T)	.	.	0.999986741007567	0.946
18	19096573	G	A	18	21516612	y	y	splicing	GREB1L(NM_001142966:exon30:c.5130-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.4949-1G>A;ENST00000424526:exon30:c.5130-1G>A;ENST00000269218:exon29:c.4803-1G>A;ENST00000580732:exon30:c.5130-1G>A;ENST00000580384:exon3:c.313-1G>A)	.	.	0.999989125585301	0.944
18	19096573	G	C	18	21516612	y	y	splicing	GREB1L(NM_001142966:exon30:c.5130-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.4949-1G>C;ENST00000424526:exon30:c.5130-1G>C;ENST00000269218:exon29:c.4803-1G>C;ENST00000580732:exon30:c.5130-1G>C;ENST00000580384:exon3:c.313-1G>C)	.	.	0.999989125585301	0.944
18	19096573	G	T	18	21516612	y	y	splicing	GREB1L(NM_001142966:exon30:c.5130-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.4949-1G>T;ENST00000424526:exon30:c.5130-1G>T;ENST00000269218:exon29:c.4803-1G>T;ENST00000580732:exon30:c.5130-1G>T;ENST00000580384:exon3:c.313-1G>T)	.	.	0.999989125585301	0.944
18	19096574	G	A	18	21516613	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon30:c.G5130A:p.R1710R;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.G5130A:p.R1710R;ENSG00000141449:ENST00000269218:exon29:c.G4803A:p.R1601R;ENSG00000141449:ENST00000424526:exon30:c.G5130A:p.R1710R;	0.987851385943038	0.82
18	19096574	G	C	18	21516613	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.G5130C:p.R1710S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.G5130C:p.R1710S;ENSG00000141449:ENST00000269218:exon29:c.G4803C:p.R1601S;ENSG00000141449:ENST00000424526:exon30:c.G5130C:p.R1710S;	0.999937451363606	0.978
18	19096574	G	T	18	21516613	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.G5130T:p.R1710S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.G5130T:p.R1710S;ENSG00000141449:ENST00000269218:exon29:c.G4803T:p.R1601S;ENSG00000141449:ENST00000424526:exon30:c.G5130T:p.R1710S;	0.999963133546606	0.994
18	19096575	T	A	18	21516614	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.T5131A:p.Y1711N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.T5131A:p.Y1711N;ENSG00000141449:ENST00000269218:exon29:c.T4804A:p.Y1602N;ENSG00000141449:ENST00000424526:exon30:c.T5131A:p.Y1711N;	0.885458536839869	0.51
18	19096575	T	C	18	21516614	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.T5131C:p.Y1711H;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.T5131C:p.Y1711H;ENSG00000141449:ENST00000269218:exon29:c.T4804C:p.Y1602H;ENSG00000141449:ENST00000424526:exon30:c.T5131C:p.Y1711H;	0.900852710975849	0.56
18	19096575	T	G	18	21516614	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.T5131G:p.Y1711D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.T5131G:p.Y1711D;ENSG00000141449:ENST00000269218:exon29:c.T4804G:p.Y1602D;ENSG00000141449:ENST00000424526:exon30:c.T5131G:p.Y1711D;	0.900857685784374	0.488
18	19096713	A	C	18	21516752	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.A5269C:p.M1757L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.A5269C:p.M1757L;ENSG00000141449:ENST00000269218:exon29:c.A4942C:p.M1648L;ENSG00000141449:ENST00000424526:exon30:c.A5269C:p.M1757L;	9.9969677847852E-5	0.0
18	19096713	A	G	18	21516752	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.A5269G:p.M1757V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.A5269G:p.M1757V;ENSG00000141449:ENST00000269218:exon29:c.A4942G:p.M1648V;ENSG00000141449:ENST00000424526:exon30:c.A5269G:p.M1757V;	6.38245047880478E-4	0.026
18	19096713	A	T	18	21516752	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.A5269T:p.M1757L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.A5269T:p.M1757L;ENSG00000141449:ENST00000269218:exon29:c.A4942T:p.M1648L;ENSG00000141449:ENST00000424526:exon30:c.A5269T:p.M1757L;	0.00336324125778118	0.158
18	19096714	T	A	18	21516753	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.T5270A:p.M1757K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.T5270A:p.M1757K;ENSG00000141449:ENST00000269218:exon29:c.T4943A:p.M1648K;ENSG00000141449:ENST00000424526:exon30:c.T5270A:p.M1757K;	3.09748722130376E-4	0.12
18	19096714	T	C	18	21516753	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.T5270C:p.M1757T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.T5270C:p.M1757T;ENSG00000141449:ENST00000269218:exon29:c.T4943C:p.M1648T;ENSG00000141449:ENST00000424526:exon30:c.T5270C:p.M1757T;	0.00468562987485374	0.028
18	19096714	T	G	18	21516753	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.T5270G:p.M1757R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.T5270G:p.M1757R;ENSG00000141449:ENST00000269218:exon29:c.T4943G:p.M1648R;ENSG00000141449:ENST00000424526:exon30:c.T5270G:p.M1757R;	0.28467505850619	0.204
18	19096715	G	A	18	21516754	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.G5271A:p.M1757I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.G5271A:p.M1757I;ENSG00000141449:ENST00000269218:exon29:c.G4944A:p.M1648I;ENSG00000141449:ENST00000424526:exon30:c.G5271A:p.M1757I;	0.999933618885804	0.968
18	19096715	G	C	18	21516754	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.G5271C:p.M1757I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.G5271C:p.M1757I;ENSG00000141449:ENST00000269218:exon29:c.G4944C:p.M1648I;ENSG00000141449:ENST00000424526:exon30:c.G5271C:p.M1757I;	0.999931937475574	0.974
18	19096715	G	T	18	21516754	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon30:c.G5271T:p.M1757I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon30:c.G5271T:p.M1757I;ENSG00000141449:ENST00000269218:exon29:c.G4944T:p.M1648I;ENSG00000141449:ENST00000424526:exon30:c.G5271T:p.M1757I;	0.999506963011752	0.874
18	19096716	G	A	18	21516755	y	y	splicing	GREB1L(NM_001142966:exon30:c.5271+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.5090+1G>A;ENST00000424526:exon30:c.5271+1G>A;ENST00000269218:exon29:c.4944+1G>A;ENST00000580732:exon30:c.5271+1G>A;ENST00000580384:exon3:c.454+1G>A)	.	.	0.999990361384395	0.938
18	19096716	G	C	18	21516755	y	y	splicing	GREB1L(NM_001142966:exon30:c.5271+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.5090+1G>C;ENST00000424526:exon30:c.5271+1G>C;ENST00000269218:exon29:c.4944+1G>C;ENST00000580732:exon30:c.5271+1G>C;ENST00000580384:exon3:c.454+1G>C)	.	.	0.999990361384395	0.938
18	19096716	G	T	18	21516755	y	y	splicing	GREB1L(NM_001142966:exon30:c.5271+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.5090+1G>T;ENST00000424526:exon30:c.5271+1G>T;ENST00000269218:exon29:c.4944+1G>T;ENST00000580732:exon30:c.5271+1G>T;ENST00000580384:exon3:c.454+1G>T)	.	.	0.999990361384395	0.938
18	19096717	T	A	18	21516756	y	y	splicing	GREB1L(NM_001142966:exon30:c.5271+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.5090+2T>A;ENST00000424526:exon30:c.5271+2T>A;ENST00000269218:exon29:c.4944+2T>A;ENST00000580732:exon30:c.5271+2T>A;ENST00000580384:exon3:c.454+2T>A)	.	.	0.999988247793601	0.932
18	19096717	T	C	18	21516756	y	y	splicing	GREB1L(NM_001142966:exon30:c.5271+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.5090+2T>C;ENST00000424526:exon30:c.5271+2T>C;ENST00000269218:exon29:c.4944+2T>C;ENST00000580732:exon30:c.5271+2T>C;ENST00000580384:exon3:c.454+2T>C)	.	.	0.999929727175276	0.87
18	19096717	T	G	18	21516756	y	y	splicing	GREB1L(NM_001142966:exon30:c.5271+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon29:c.5090+2T>G;ENST00000424526:exon30:c.5271+2T>G;ENST00000269218:exon29:c.4944+2T>G;ENST00000580732:exon30:c.5271+2T>G;ENST00000580384:exon3:c.454+2T>G)	.	.	0.999988247793601	0.932
18	19096718	G	A	18	21516757	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.25343584419662E-5	0.062
18	19096718	G	C	18	21516757	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.163462690801824	0.346
18	19096718	G	T	18	21516757	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0589524438806441	0.298
18	19096719	A	C	18	21516758	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.973544125971812	0.69
18	19096719	A	G	18	21516758	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.995757692160355	0.836
18	19096719	A	T	18	21516758	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996293135476202	0.834
18	19096720	G	A	18	21516759	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999719436324253	0.942
18	19096720	G	C	18	21516759	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999919927576881	0.964
18	19096720	G	T	18	21516759	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999801703065709	0.902
18	19096721	T	A	18	21516760	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0314249241919755	0.442
18	19096721	T	C	18	21516760	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0164798330348344	0.32
18	19096721	T	G	18	21516760	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00362459743455712	0.364
18	19096722	A	C	18	21516761	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.65913405590462E-5	0.004
18	19096722	A	G	18	21516761	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.13848015036405E-5	0.0
18	19096722	A	T	18	21516761	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.13848015036405E-5	0.0
18	19096723	C	A	18	21516762	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.22873500489769E-5	0.002
18	19096723	C	G	18	21516762	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.15079305411352E-5	0.002
18	19096723	C	T	18	21516762	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.38499317981042E-5	0.0
18	19097983	C	A	18	21518022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.56605057471026E-4	0.06
18	19097983	C	G	18	21518022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	5.85920365350301E-4	0.12
18	19097983	C	T	18	21518022	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.8515694099229E-5	0.0
18	19097984	T	A	18	21518023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.847009275999126	0.614
18	19097984	T	C	18	21518023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00180070987542144	0.126
18	19097984	T	G	18	21518023	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.457502675808001	0.55
18	19097985	C	A	18	21518024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0145165854484966	0.136
18	19097985	C	G	18	21518024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0133721449497869	0.178
18	19097985	C	T	18	21518024	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.18674913678057E-4	0.046
18	19097986	T	A	18	21518025	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999951871449714	0.968
18	19097986	T	C	18	21518025	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00972759091419763	0.074
18	19097986	T	G	18	21518025	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.927665689447478	0.75
18	19097987	G	A	18	21518026	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.36572825423615E-5	0.0
18	19097987	G	C	18	21518026	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.85063395155626E-4	0.014
18	19097987	G	T	18	21518026	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.1824226244657E-5	0.0
18	19097988	A	C	18	21518027	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.20966773523471E-5	0.01
18	19097988	A	G	18	21518027	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.76044321196986E-5	0.018
18	19097988	A	T	18	21518027	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.49779126241532E-4	0.0
18	19097989	T	A	18	21518028	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999470253072554	0.87
18	19097989	T	C	18	21518028	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.937560400788998	0.672
18	19097989	T	G	18	21518028	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999957787581344	0.952
18	19097990	T	A	18	21518029	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.996429997806459	0.832
18	19097990	T	C	18	21518029	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0873398231970521	0.184
18	19097990	T	G	18	21518029	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998279151761558	0.83
18	19097991	T	A	18	21518030	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.09345034873938E-4	0.022
18	19097991	T	C	18	21518030	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.68921025574153E-5	0.032
18	19097991	T	G	18	21518030	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.25985079591874E-4	0.208
18	19097992	C	A	18	21518031	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.9241131008867	0.822
18	19097992	C	G	18	21518031	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997596271539015	0.964
18	19097992	C	T	18	21518031	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.491162002348161	0.19
18	19097993	A	C	18	21518032	y	y	splicing	GREB1L(NM_001142966:exon31:c.5272-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5091-2A>C;ENST00000424526:exon31:c.5272-2A>C;ENST00000269218:exon30:c.4945-2A>C;ENST00000580732:exon31:c.5272-2A>C)	.	.	0.999988247793601	0.93
18	19097993	A	G	18	21518032	y	y	splicing	GREB1L(NM_001142966:exon31:c.5272-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5091-2A>G;ENST00000424526:exon31:c.5272-2A>G;ENST00000269218:exon30:c.4945-2A>G;ENST00000580732:exon31:c.5272-2A>G)	.	.	0.999988247793601	0.93
18	19097993	A	T	18	21518032	y	y	splicing	GREB1L(NM_001142966:exon31:c.5272-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5091-2A>T;ENST00000424526:exon31:c.5272-2A>T;ENST00000269218:exon30:c.4945-2A>T;ENST00000580732:exon31:c.5272-2A>T)	.	.	0.999988247793601	0.93
18	19097994	G	A	18	21518033	y	y	splicing	GREB1L(NM_001142966:exon31:c.5272-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5091-1G>A;ENST00000424526:exon31:c.5272-1G>A;ENST00000269218:exon30:c.4945-1G>A;ENST00000580732:exon31:c.5272-1G>A)	.	.	0.999990361384395	0.938
18	19097994	G	C	18	21518033	y	y	splicing	GREB1L(NM_001142966:exon31:c.5272-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5091-1G>C;ENST00000424526:exon31:c.5272-1G>C;ENST00000269218:exon30:c.4945-1G>C;ENST00000580732:exon31:c.5272-1G>C)	.	.	0.999990361384395	0.938
18	19097994	G	T	18	21518033	y	y	splicing	GREB1L(NM_001142966:exon31:c.5272-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5091-1G>T;ENST00000424526:exon31:c.5272-1G>T;ENST00000269218:exon30:c.4945-1G>T;ENST00000580732:exon31:c.5272-1G>T)	.	.	0.999990361384395	0.938
18	19097995	G	A	18	21518034	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.G5272A:p.V1758M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.G5272A:p.V1758M;ENSG00000141449:ENST00000269218:exon30:c.G4945A:p.V1649M;ENSG00000141449:ENST00000424526:exon31:c.G5272A:p.V1758M;	0.999655413720363	0.902
18	19097995	G	C	18	21518034	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.G5272C:p.V1758L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.G5272C:p.V1758L;ENSG00000141449:ENST00000269218:exon30:c.G4945C:p.V1649L;ENSG00000141449:ENST00000424526:exon31:c.G5272C:p.V1758L;	0.999700598520819	0.952
18	19097995	G	T	18	21518034	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.G5272T:p.V1758L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.G5272T:p.V1758L;ENSG00000141449:ENST00000269218:exon30:c.G4945T:p.V1649L;ENSG00000141449:ENST00000424526:exon31:c.G5272T:p.V1758L;	0.99978678680277	0.99
18	19097996	T	A	18	21518035	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.T5273A:p.V1758E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.T5273A:p.V1758E;ENSG00000141449:ENST00000269218:exon30:c.T4946A:p.V1649E;ENSG00000141449:ENST00000424526:exon31:c.T5273A:p.V1758E;	0.00719286085572752	0.256
18	19097996	T	C	18	21518035	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.T5273C:p.V1758A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.T5273C:p.V1758A;ENSG00000141449:ENST00000269218:exon30:c.T4946C:p.V1649A;ENSG00000141449:ENST00000424526:exon31:c.T5273C:p.V1758A;	0.0496398307799056	0.178
18	19097996	T	G	18	21518035	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.T5273G:p.V1758G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.T5273G:p.V1758G;ENSG00000141449:ENST00000269218:exon30:c.T4946G:p.V1649G;ENSG00000141449:ENST00000424526:exon31:c.T5273G:p.V1758G;	0.0147921536384169	0.126
18	19098193	G	A	18	21518232	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.G5470A:p.E1824K;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.G5470A:p.E1824K;ENSG00000141449:ENST00000269218:exon30:c.G5143A:p.E1715K;ENSG00000141449:ENST00000424526:exon31:c.G5470A:p.E1824K;	0.9698242871012	0.82
18	19098193	G	C	18	21518232	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.G5470C:p.E1824Q;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.G5470C:p.E1824Q;ENSG00000141449:ENST00000269218:exon30:c.G5143C:p.E1715Q;ENSG00000141449:ENST00000424526:exon31:c.G5470C:p.E1824Q;	0.00258427510974415	0.046
18	19098193	G	T	18	21518232	y	y	exonic	GREB1L	stopgain SNV	GREB1L:NM_001142966:exon31:c.G5470T:p.E1824X;	exonic	ENSG00000141449	stopgain SNV	ENSG00000141449:ENST00000580732:exon31:c.G5470T:p.E1824X;ENSG00000141449:ENST00000269218:exon30:c.G5143T:p.E1715X;ENSG00000141449:ENST00000424526:exon31:c.G5470T:p.E1824X;	0.98815231386583	0.878
18	19098194	A	C	18	21518233	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.A5471C:p.E1824A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.A5471C:p.E1824A;ENSG00000141449:ENST00000269218:exon30:c.A5144C:p.E1715A;ENSG00000141449:ENST00000424526:exon31:c.A5471C:p.E1824A;	0.999683497279151	0.99
18	19098194	A	G	18	21518233	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.A5471G:p.E1824G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.A5471G:p.E1824G;ENSG00000141449:ENST00000269218:exon30:c.A5144G:p.E1715G;ENSG00000141449:ENST00000424526:exon31:c.A5471G:p.E1824G;	0.999965836016783	0.988
18	19098194	A	T	18	21518233	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.A5471T:p.E1824V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.A5471T:p.E1824V;ENSG00000141449:ENST00000269218:exon30:c.A5144T:p.E1715V;ENSG00000141449:ENST00000424526:exon31:c.A5471T:p.E1824V;	0.999926154397942	0.988
18	19098195	G	A	18	21518234	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon31:c.G5472A:p.E1824E;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.G5472A:p.E1824E;ENSG00000141449:ENST00000269218:exon30:c.G5145A:p.E1715E;ENSG00000141449:ENST00000424526:exon31:c.G5472A:p.E1824E;	0.999987327766998	1.0
18	19098195	G	C	18	21518234	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.G5472C:p.E1824D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.G5472C:p.E1824D;ENSG00000141449:ENST00000269218:exon30:c.G5145C:p.E1715D;ENSG00000141449:ENST00000424526:exon31:c.G5472C:p.E1824D;	0.999997304458277	1.0
18	19098195	G	T	18	21518234	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon31:c.G5472T:p.E1824D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon31:c.G5472T:p.E1824D;ENSG00000141449:ENST00000269218:exon30:c.G5145T:p.E1715D;ENSG00000141449:ENST00000424526:exon31:c.G5472T:p.E1824D;	0.999993018555097	1.0
18	19098196	G	A	18	21518235	y	y	splicing	GREB1L(NM_001142966:exon31:c.5472+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5291+1G>A;ENST00000424526:exon31:c.5472+1G>A;ENST00000269218:exon30:c.5145+1G>A;ENST00000580732:exon31:c.5472+1G>A;ENST00000580384:exon4:c.516+1G>A)	.	.	0.999990361384395	0.938
18	19098196	G	C	18	21518235	y	y	splicing	GREB1L(NM_001142966:exon31:c.5472+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5291+1G>C;ENST00000424526:exon31:c.5472+1G>C;ENST00000269218:exon30:c.5145+1G>C;ENST00000580732:exon31:c.5472+1G>C;ENST00000580384:exon4:c.516+1G>C)	.	.	0.999990361384395	0.938
18	19098196	G	T	18	21518235	y	y	splicing	GREB1L(NM_001142966:exon31:c.5472+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5291+1G>T;ENST00000424526:exon31:c.5472+1G>T;ENST00000269218:exon30:c.5145+1G>T;ENST00000580732:exon31:c.5472+1G>T;ENST00000580384:exon4:c.516+1G>T)	.	.	0.999990361384395	0.938
18	19098197	T	A	18	21518236	y	y	splicing	GREB1L(NM_001142966:exon31:c.5472+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5291+2T>A;ENST00000424526:exon31:c.5472+2T>A;ENST00000269218:exon30:c.5145+2T>A;ENST00000580732:exon31:c.5472+2T>A;ENST00000580384:exon4:c.516+2T>A)	.	.	0.999988247793601	0.93
18	19098197	T	C	18	21518236	y	y	splicing	GREB1L(NM_001142966:exon31:c.5472+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5291+2T>C;ENST00000424526:exon31:c.5472+2T>C;ENST00000269218:exon30:c.5145+2T>C;ENST00000580732:exon31:c.5472+2T>C;ENST00000580384:exon4:c.516+2T>C)	.	.	0.995320650369382	0.708
18	19098197	T	G	18	21518236	y	y	splicing	GREB1L(NM_001142966:exon31:c.5472+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon30:c.5291+2T>G;ENST00000424526:exon31:c.5472+2T>G;ENST00000269218:exon30:c.5145+2T>G;ENST00000580732:exon31:c.5472+2T>G;ENST00000580384:exon4:c.516+2T>G)	.	.	0.999988247793601	0.93
18	19098198	A	C	18	21518237	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999959515143536	0.978
18	19098198	A	G	18	21518237	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998326352205796	0.874
18	19098198	A	T	18	21518237	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.99994122338813	0.936
18	19098199	A	C	18	21518238	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998286251441505	0.918
18	19098199	A	G	18	21518238	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.993254261955005	0.944
18	19098199	A	T	18	21518238	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.997336745275099	0.916
18	19098200	A	C	18	21518239	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.5160801959017E-5	0.04
18	19098200	A	G	18	21518239	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.60717750591434E-4	0.128
18	19098200	A	T	18	21518239	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.96469150421385E-4	0.062
18	19098201	A	C	18	21518240	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.46168077317574E-4	0.03
18	19098201	A	G	18	21518240	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.73915216536486E-5	0.002
18	19098201	A	T	18	21518240	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.28910556266189E-4	0.02
18	19098202	A	C	18	21518241	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.05102984893825E-4	0.004
18	19098202	A	G	18	21518241	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.16660592440074E-4	0.006
18	19098202	A	T	18	21518241	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.79409886717635E-4	0.024
18	19098203	G	A	18	21518242	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00337394185866115	0.154
18	19098203	G	C	18	21518242	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00477065619745798	0.108
18	19098203	G	T	18	21518242	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00144228650647595	0.104
18	19100637	T	A	18	21520676	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999986091535941	0.97
18	19100637	T	C	18	21520676	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00289081435342394	0.086
18	19100637	T	G	18	21520676	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.815944428230923	0.702
18	19100638	G	A	18	21520677	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0147258149012132	0.116
18	19100638	G	C	18	21520677	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00745249733226501	0.124
18	19100638	G	T	18	21520677	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0169432321686553	0.208
18	19100639	A	C	18	21520678	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.53134947483224E-5	0.036
18	19100639	A	G	18	21520678	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.60164724246546E-4	0.026
18	19100639	A	T	18	21520678	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.85468602975781E-4	0.088
18	19100640	T	A	18	21520679	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999982037261937	0.97
18	19100640	T	C	18	21520679	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.419854360626453	0.406
18	19100640	T	G	18	21520679	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999978705316719	0.942
18	19100641	G	A	18	21520680	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.41458554154347E-4	0.026
18	19100641	G	C	18	21520680	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.18318256808335E-4	0.008
18	19100641	G	T	18	21520680	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.88712870036768E-4	0.01
18	19100642	A	C	18	21520681	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.21403688932996E-5	0.0
18	19100642	A	G	18	21520681	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.72156716785238E-5	0.0
18	19100642	A	T	18	21520681	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.76768628509163E-5	0.0
18	19100643	T	A	18	21520682	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.806525676283432	0.752
18	19100643	T	C	18	21520682	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.51010127598982E-4	0.034
18	19100643	T	G	18	21520682	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999965202248834	0.98
18	19100644	T	A	18	21520683	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999407385126692	0.94
18	19100644	T	C	18	21520683	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.412248604315104	0.352
18	19100644	T	G	18	21520683	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998905798447822	0.932
18	19100645	T	A	18	21520684	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.26081750386106E-4	0.04
18	19100645	T	C	18	21520684	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.5161461351215E-4	0.002
18	19100645	T	G	18	21520684	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.57494610876497E-4	0.01
18	19100646	C	A	18	21520685	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998724616036453	0.894
18	19100646	C	G	18	21520685	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.999885319360926	0.95
18	19100646	C	T	18	21520685	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.227259749497701	0.2
18	19100647	A	C	18	21520686	y	y	splicing	GREB1L(NM_001142966:exon32:c.5473-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5292-2A>C;ENST00000424526:exon32:c.5473-2A>C;ENST00000269218:exon31:c.5146-2A>C;ENST00000580732:exon32:c.5473-2A>C;ENST00000580384:exon5:c.517-2A>C)	.	.	0.999988247793601	0.928
18	19100647	A	G	18	21520686	y	y	splicing	GREB1L(NM_001142966:exon32:c.5473-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5292-2A>G;ENST00000424526:exon32:c.5473-2A>G;ENST00000269218:exon31:c.5146-2A>G;ENST00000580732:exon32:c.5473-2A>G;ENST00000580384:exon5:c.517-2A>G)	.	.	0.999988247793601	0.928
18	19100647	A	T	18	21520686	y	y	splicing	GREB1L(NM_001142966:exon32:c.5473-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5292-2A>T;ENST00000424526:exon32:c.5473-2A>T;ENST00000269218:exon31:c.5146-2A>T;ENST00000580732:exon32:c.5473-2A>T;ENST00000580384:exon5:c.517-2A>T)	.	.	0.999988247793601	0.928
18	19100648	G	A	18	21520687	y	y	splicing	GREB1L(NM_001142966:exon32:c.5473-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5292-1G>A;ENST00000424526:exon32:c.5473-1G>A;ENST00000269218:exon31:c.5146-1G>A;ENST00000580732:exon32:c.5473-1G>A;ENST00000580384:exon5:c.517-1G>A)	.	.	0.999985532734767	0.936
18	19100648	G	C	18	21520687	y	y	splicing	GREB1L(NM_001142966:exon32:c.5473-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5292-1G>C;ENST00000424526:exon32:c.5473-1G>C;ENST00000269218:exon31:c.5146-1G>C;ENST00000580732:exon32:c.5473-1G>C;ENST00000580384:exon5:c.517-1G>C)	.	.	0.999985532734767	0.936
18	19100648	G	T	18	21520687	y	y	splicing	GREB1L(NM_001142966:exon32:c.5473-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5292-1G>T;ENST00000424526:exon32:c.5473-1G>T;ENST00000269218:exon31:c.5146-1G>T;ENST00000580732:exon32:c.5473-1G>T;ENST00000580384:exon5:c.517-1G>T)	.	.	0.999985532734767	0.936
18	19100649	G	A	18	21520688	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.G5473A:p.V1825M;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.G5473A:p.V1825M;ENSG00000141449:ENST00000269218:exon31:c.G5146A:p.V1716M;ENSG00000141449:ENST00000424526:exon32:c.G5473A:p.V1825M;	0.999285696563894	0.952
18	19100649	G	C	18	21520688	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.G5473C:p.V1825L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.G5473C:p.V1825L;ENSG00000141449:ENST00000269218:exon31:c.G5146C:p.V1716L;ENSG00000141449:ENST00000424526:exon32:c.G5473C:p.V1825L;	0.999826727730926	0.978
18	19100649	G	T	18	21520688	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.G5473T:p.V1825L;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.G5473T:p.V1825L;ENSG00000141449:ENST00000269218:exon31:c.G5146T:p.V1716L;ENSG00000141449:ENST00000424526:exon32:c.G5473T:p.V1825L;	0.999941062429756	0.998
18	19100650	T	A	18	21520689	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.T5474A:p.V1825E;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.T5474A:p.V1825E;ENSG00000141449:ENST00000269218:exon31:c.T5147A:p.V1716E;ENSG00000141449:ENST00000424526:exon32:c.T5474A:p.V1825E;	0.866946490689665	0.532
18	19100650	T	C	18	21520689	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.T5474C:p.V1825A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.T5474C:p.V1825A;ENSG00000141449:ENST00000269218:exon31:c.T5147C:p.V1716A;ENSG00000141449:ENST00000424526:exon32:c.T5474C:p.V1825A;	0.805600612034059	0.594
18	19100650	T	G	18	21520689	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.T5474G:p.V1825G;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.T5474G:p.V1825G;ENSG00000141449:ENST00000269218:exon31:c.T5147G:p.V1716G;ENSG00000141449:ENST00000424526:exon32:c.T5474G:p.V1825G;	0.684385404578529	0.542
18	19100782	A	C	18	21520821	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.A5606C:p.K1869T;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.A5606C:p.K1869T;ENSG00000141449:ENST00000269218:exon31:c.A5279C:p.K1760T;ENSG00000141449:ENST00000424526:exon32:c.A5606C:p.K1869T;	0.594630662720119	0.744
18	19100782	A	G	18	21520821	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.A5606G:p.K1869R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.A5606G:p.K1869R;ENSG00000141449:ENST00000269218:exon31:c.A5279G:p.K1760R;ENSG00000141449:ENST00000424526:exon32:c.A5606G:p.K1869R;	0.281693917181004	0.498
18	19100782	A	T	18	21520821	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.A5606T:p.K1869I;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.A5606T:p.K1869I;ENSG00000141449:ENST00000269218:exon31:c.A5279T:p.K1760I;ENSG00000141449:ENST00000424526:exon32:c.A5606T:p.K1869I;	0.939763617009871	0.524
18	19100783	A	C	18	21520822	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.A5607C:p.K1869N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.A5607C:p.K1869N;ENSG00000141449:ENST00000269218:exon31:c.A5280C:p.K1760N;ENSG00000141449:ENST00000424526:exon32:c.A5607C:p.K1869N;	0.984621198117688	0.68
18	19100783	A	G	18	21520822	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon32:c.A5607G:p.K1869K;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.A5607G:p.K1869K;ENSG00000141449:ENST00000269218:exon31:c.A5280G:p.K1760K;ENSG00000141449:ENST00000424526:exon32:c.A5607G:p.K1869K;	0.860222381990699	0.528
18	19100783	A	T	18	21520822	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.A5607T:p.K1869N;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.A5607T:p.K1869N;ENSG00000141449:ENST00000269218:exon31:c.A5280T:p.K1760N;ENSG00000141449:ENST00000424526:exon32:c.A5607T:p.K1869N;	0.984621198117688	0.612
18	19100784	G	A	18	21520823	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.G5608A:p.G1870S;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.G5608A:p.G1870S;ENSG00000141449:ENST00000269218:exon31:c.G5281A:p.G1761S;ENSG00000141449:ENST00000424526:exon32:c.G5608A:p.G1870S;	0.999695861881506	0.926
18	19100784	G	C	18	21520823	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.G5608C:p.G1870R;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.G5608C:p.G1870R;ENSG00000141449:ENST00000269218:exon31:c.G5281C:p.G1761R;ENSG00000141449:ENST00000424526:exon32:c.G5608C:p.G1870R;	0.999434624359977	0.932
18	19100784	G	T	18	21520823	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon32:c.G5608T:p.G1870C;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon32:c.G5608T:p.G1870C;ENSG00000141449:ENST00000269218:exon31:c.G5281T:p.G1761C;ENSG00000141449:ENST00000424526:exon32:c.G5608T:p.G1870C;	0.999557496138283	0.946
18	19100785	G	A	18	21520824	y	y	splicing	GREB1L(NM_001142966:exon32:c.5608+1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5427+1G>A;ENST00000424526:exon32:c.5608+1G>A;ENST00000269218:exon31:c.5281+1G>A;ENST00000580732:exon32:c.5608+1G>A)	.	.	0.999985532734767	0.936
18	19100785	G	C	18	21520824	y	y	splicing	GREB1L(NM_001142966:exon32:c.5608+1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5427+1G>C;ENST00000424526:exon32:c.5608+1G>C;ENST00000269218:exon31:c.5281+1G>C;ENST00000580732:exon32:c.5608+1G>C)	.	.	0.999985532734767	0.936
18	19100785	G	T	18	21520824	y	y	splicing	GREB1L(NM_001142966:exon32:c.5608+1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5427+1G>T;ENST00000424526:exon32:c.5608+1G>T;ENST00000269218:exon31:c.5281+1G>T;ENST00000580732:exon32:c.5608+1G>T)	.	.	0.999985532734767	0.936
18	19100786	T	A	18	21520825	y	y	splicing	GREB1L(NM_001142966:exon32:c.5608+2T>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5427+2T>A;ENST00000424526:exon32:c.5608+2T>A;ENST00000269218:exon31:c.5281+2T>A;ENST00000580732:exon32:c.5608+2T>A)	.	.	0.999988247793601	0.928
18	19100786	T	C	18	21520825	y	y	splicing	GREB1L(NM_001142966:exon32:c.5608+2T>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5427+2T>C;ENST00000424526:exon32:c.5608+2T>C;ENST00000269218:exon31:c.5281+2T>C;ENST00000580732:exon32:c.5608+2T>C)	.	.	0.992783534660112	0.666
18	19100786	T	G	18	21520825	y	y	splicing	GREB1L(NM_001142966:exon32:c.5608+2T>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon31:c.5427+2T>G;ENST00000424526:exon32:c.5608+2T>G;ENST00000269218:exon31:c.5281+2T>G;ENST00000580732:exon32:c.5608+2T>G)	.	.	0.999988247793601	0.928
18	19100787	A	C	18	21520826	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.993353830336719	0.826
18	19100787	A	G	18	21520826	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.500289812022429	0.282
18	19100787	A	T	18	21520826	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.981514108588773	0.81
18	19100788	A	C	18	21520827	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.873034315108026	0.572
18	19100788	A	G	18	21520827	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.863260553829351	0.56
18	19100788	A	T	18	21520827	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.873445592494449	0.602
18	19100789	G	A	18	21520828	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.240683893518985	0.408
18	19100789	G	C	18	21520828	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.683115418586924	0.442
18	19100789	G	T	18	21520828	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.597141019266322	0.45
18	19100790	T	A	18	21520829	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0631518897162446	0.246
18	19100790	T	C	18	21520829	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0488039384601052	0.236
18	19100790	T	G	18	21520829	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0339029564616836	0.182
18	19100791	C	A	18	21520830	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.02354544142521E-4	0.002
18	19100791	C	G	18	21520830	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.02354544142521E-4	0.0
18	19100791	C	T	18	21520830	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0016858213098059	0.008
18	19100792	A	C	18	21520831	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.13260440238076E-4	0.014
18	19100792	A	G	18	21520831	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.13260440238076E-4	0.014
18	19100792	A	T	18	21520831	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00120159961092021	0.114
18	19102607	T	A	18	21522646	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00344495478768276	0.2
18	19102607	T	C	18	21522646	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	6.91070787647019E-4	0.01
18	19102607	T	G	18	21522646	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00154600370665001	0.274
18	19102608	T	A	18	21522647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00472084484184959	0.188
18	19102608	T	C	18	21522647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.85699754199327E-4	0.032
18	19102608	T	G	18	21522647	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00157426259654467	0.122
18	19102609	T	A	18	21522648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00149006319594522	0.102
18	19102609	T	C	18	21522648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.86075178917221E-5	0.012
18	19102609	T	G	18	21522648	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.90361136069932E-4	0.086
18	19102610	T	A	18	21522649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00435217976210347	0.132
18	19102610	T	C	18	21522649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.94807386375864E-4	0.014
18	19102610	T	G	18	21522649	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00187971328658675	0.16
18	19102611	T	A	18	21522650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	9.18459064633317E-4	0.062
18	19102611	T	C	18	21522650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.47313653811405E-5	0.0
18	19102611	T	G	18	21522650	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00113921075080456	0.13
18	19102612	C	A	18	21522651	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0015488470948227	0.052
18	19102612	C	G	18	21522651	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00136966927005483	0.036
18	19102612	C	T	18	21522651	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.18752668754294E-5	0.002
18	19102613	C	A	18	21522652	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0115204092100948	0.17
18	19102613	C	G	18	21522652	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.00638184008693332	0.202
18	19102613	C	T	18	21522652	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	8.7980399283872E-5	0.01
18	19102614	T	A	18	21522653	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.998493858468851	0.854
18	19102614	T	C	18	21522653	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	4.2335746250668E-5	0.004
18	19102614	T	G	18	21522653	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.0015546213696297	0.094
18	19102615	G	A	18	21522654	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.33853226671362E-5	0.0
18	19102615	G	C	18	21522654	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.45281266804533E-5	0.008
18	19102615	G	T	18	21522654	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	3.33853226671362E-5	0.002
18	19102616	A	C	18	21522655	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	1.47904645713007E-4	0.118
18	19102616	A	G	18	21522655	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	0.487363622034397	0.274
18	19102616	A	T	18	21522655	y	y	intronic	GREB1L	.	.	intronic	ENSG00000141449	.	.	2.24024446486568E-4	0.016
18	19102617	A	C	18	21522656	y	y	splicing	GREB1L(NM_001142966:exon33:c.5609-2A>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon32:c.5428-2A>C;ENST00000424526:exon33:c.5609-2A>C;ENST00000269218:exon32:c.5282-2A>C;ENST00000580732:exon33:c.5609-2A>C)	.	.	0.999988247793601	0.928
18	19102617	A	G	18	21522656	y	y	splicing	GREB1L(NM_001142966:exon33:c.5609-2A>G)	.	.	splicing	ENSG00000141449(ENST00000400483:exon32:c.5428-2A>G;ENST00000424526:exon33:c.5609-2A>G;ENST00000269218:exon32:c.5282-2A>G;ENST00000580732:exon33:c.5609-2A>G)	.	.	0.999988247793601	0.928
18	19102617	A	T	18	21522656	y	y	splicing	GREB1L(NM_001142966:exon33:c.5609-2A>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon32:c.5428-2A>T;ENST00000424526:exon33:c.5609-2A>T;ENST00000269218:exon32:c.5282-2A>T;ENST00000580732:exon33:c.5609-2A>T)	.	.	0.999988247793601	0.928
18	19102618	G	A	18	21522657	y	y	splicing	GREB1L(NM_001142966:exon33:c.5609-1G>A)	.	.	splicing	ENSG00000141449(ENST00000400483:exon32:c.5428-1G>A;ENST00000424526:exon33:c.5609-1G>A;ENST00000269218:exon32:c.5282-1G>A;ENST00000580732:exon33:c.5609-1G>A)	.	.	0.999990361384395	0.938
18	19102618	G	C	18	21522657	y	y	splicing	GREB1L(NM_001142966:exon33:c.5609-1G>C)	.	.	splicing	ENSG00000141449(ENST00000400483:exon32:c.5428-1G>C;ENST00000424526:exon33:c.5609-1G>C;ENST00000269218:exon32:c.5282-1G>C;ENST00000580732:exon33:c.5609-1G>C)	.	.	0.999990361384395	0.938
18	19102618	G	T	18	21522657	y	y	splicing	GREB1L(NM_001142966:exon33:c.5609-1G>T)	.	.	splicing	ENSG00000141449(ENST00000400483:exon32:c.5428-1G>T;ENST00000424526:exon33:c.5609-1G>T;ENST00000269218:exon32:c.5282-1G>T;ENST00000580732:exon33:c.5609-1G>T)	.	.	0.999990361384395	0.938
18	19102619	G	A	18	21522658	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon33:c.G5609A:p.G1870D;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon33:c.G5609A:p.G1870D;ENSG00000141449:ENST00000269218:exon32:c.G5282A:p.G1761D;ENSG00000141449:ENST00000424526:exon33:c.G5609A:p.G1870D;	0.999016105171326	0.942
18	19102619	G	C	18	21522658	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon33:c.G5609C:p.G1870A;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon33:c.G5609C:p.G1870A;ENSG00000141449:ENST00000269218:exon32:c.G5282C:p.G1761A;ENSG00000141449:ENST00000424526:exon33:c.G5609C:p.G1870A;	0.999832479049663	0.988
18	19102619	G	T	18	21522658	y	y	exonic	GREB1L	nonsynonymous SNV	GREB1L:NM_001142966:exon33:c.G5609T:p.G1870V;	exonic	ENSG00000141449	nonsynonymous SNV	ENSG00000141449:ENST00000580732:exon33:c.G5609T:p.G1870V;ENSG00000141449:ENST00000269218:exon32:c.G5282T:p.G1761V;ENSG00000141449:ENST00000424526:exon33:c.G5609T:p.G1870V;	0.999943803476757	0.998
18	19102620	T	A	18	21522659	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon33:c.T5610A:p.G1870G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon33:c.T5610A:p.G1870G;ENSG00000141449:ENST00000269218:exon32:c.T5283A:p.G1761G;ENSG00000141449:ENST00000424526:exon33:c.T5610A:p.G1870G;	0.0156862093821086	0.214
18	19102620	T	C	18	21522659	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon33:c.T5610C:p.G1870G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon33:c.T5610C:p.G1870G;ENSG00000141449:ENST00000269218:exon32:c.T5283C:p.G1761G;ENSG00000141449:ENST00000424526:exon33:c.T5610C:p.G1870G;	0.0113895705578375	0.22
18	19102620	T	G	18	21522659	y	y	exonic	GREB1L	synonymous SNV	GREB1L:NM_001142966:exon33:c.T5610G:p.G1870G;	exonic	ENSG00000141449	synonymous SNV	ENSG00000141449:ENST00000580732:exon33:c.T5610G:p.G1870G;ENSG00000141449:ENST00000269218:exon32:c.T5283G:p.G1761G;ENSG00000141449:ENST00000424526:exon33:c.T5610G:p.G1870G;	0.0113895705578375	0.204
18	19110450	T	A	18	21530489	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon12:c.A2377T:p.S793C;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon12:c.A2377T:p.S793C;	0.791545363338671	0.706
18	19110450	T	C	18	21530489	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon12:c.A2377G:p.S793G;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon12:c.A2377G:p.S793G;	0.822147562467405	0.654
18	19110450	T	G	18	21530489	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon12:c.A2377C:p.S793R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon12:c.A2377C:p.S793R;	0.864277812728358	0.73
18	19110451	C	A	18	21530490	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon12:c.G2376T:p.R792S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon12:c.G2376T:p.R792S;	0.999176846456815	0.872
18	19110451	C	G	18	21530490	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon12:c.G2376C:p.R792S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon12:c.G2376C:p.R792S;	0.998729245929508	0.862
18	19110451	C	T	18	21530490	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon12:c.G2376A:p.R792R;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon12:c.G2376A:p.R792R;	0.368874991875086	0.606
18	19110452	C	A	18	21530491	y	y	splicing	ESCO1(NM_052911:exon13:c.2376-1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon13:c.2376-1G>T;ENST00000383276:exon14:c.2500-1G>T)	.	.	0.999990361384395	0.926
18	19110452	C	G	18	21530491	y	y	splicing	ESCO1(NM_052911:exon13:c.2376-1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon13:c.2376-1G>C;ENST00000383276:exon14:c.2500-1G>C)	.	.	0.999990361384395	0.926
18	19110452	C	T	18	21530491	y	y	splicing	ESCO1(NM_052911:exon13:c.2376-1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon13:c.2376-1G>A;ENST00000383276:exon14:c.2500-1G>A)	.	.	0.999990361384395	0.926
18	19110453	T	A	18	21530492	y	y	splicing	ESCO1(NM_052911:exon13:c.2376-2A>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon13:c.2376-2A>T;ENST00000383276:exon14:c.2500-2A>T)	.	.	0.999992446697775	0.93
18	19110453	T	C	18	21530492	y	y	splicing	ESCO1(NM_052911:exon13:c.2376-2A>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon13:c.2376-2A>G;ENST00000383276:exon14:c.2500-2A>G)	.	.	0.999992446697775	0.93
18	19110453	T	G	18	21530492	y	y	splicing	ESCO1(NM_052911:exon13:c.2376-2A>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon13:c.2376-2A>C;ENST00000383276:exon14:c.2500-2A>C)	.	.	0.999992446697775	0.93
18	19110454	A	C	18	21530493	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.992971070280077	0.652
18	19110454	A	G	18	21530493	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.86709239124935E-5	0.028
18	19110454	A	T	18	21530493	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00235981614858717	0.096
18	19110455	T	A	18	21530494	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00419799825408676	0.074
18	19110455	T	C	18	21530494	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.981556437333834	0.73
18	19110455	T	G	18	21530494	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00134714457523536	0.018
18	19110456	T	A	18	21530495	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.01760222743467E-4	0.004
18	19110456	T	C	18	21530495	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.28155414001467E-4	0.016
18	19110456	T	G	18	21530495	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.46841514497661E-4	0.0
18	19110457	A	C	18	21530496	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.70780202323946E-4	0.034
18	19110457	A	G	18	21530496	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.12066606090734E-5	0.068
18	19110457	A	T	18	21530496	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.8396057513906E-5	0.044
18	19110458	A	C	18	21530497	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.93971655984626E-5	0.006
18	19110458	A	G	18	21530497	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.08875477569644E-5	0.06
18	19110458	A	T	18	21530497	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.25632294986712E-5	0.01
18	19110459	A	C	18	21530498	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.1966292965953E-5	0.02
18	19110459	A	G	18	21530498	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.01710219937834E-6	0.012
18	19110459	A	T	18	21530498	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.94658084650441E-5	0.01
18	19110460	A	C	18	21530499	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.08492289556601E-4	0.184
18	19110460	A	G	18	21530499	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.0971793105479E-4	0.028
18	19110460	A	T	18	21530499	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.18605160818629E-5	0.142
18	19110461	A	C	18	21530500	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.96895176390933E-5	0.184
18	19110461	A	G	18	21530500	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.96796566776949E-5	0.03
18	19110461	A	T	18	21530500	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.50270616790839E-5	0.124
18	19110462	A	C	18	21530501	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.30782537932251E-5	0.082
18	19110462	A	G	18	21530501	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.68246185399654E-5	0.016
18	19110462	A	T	18	21530501	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.62868391341241E-5	0.092
18	19110463	A	C	18	21530502	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.95485200460869E-5	0.06
18	19110463	A	G	18	21530502	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.33448379425252E-5	0.01
18	19110463	A	T	18	21530502	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.37495412330809E-5	0.106
18	19112426	C	A	18	21532465	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.47039458636734E-4	0.0
18	19112426	C	G	18	21532465	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.47039458636734E-4	0.0
18	19112426	C	T	18	21532465	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.62284328782344E-4	0.0
18	19112427	A	C	18	21532466	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.88232451897503E-4	0.018
18	19112427	A	G	18	21532466	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.31775156999241E-4	0.044
18	19112427	A	T	18	21532466	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.34280308885669E-4	0.022
18	19112428	A	C	18	21532467	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.16481123748135E-4	0.046
18	19112428	A	G	18	21532467	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.34825187018105E-4	0.058
18	19112428	A	T	18	21532467	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.21949169338313E-4	0.048
18	19112429	G	A	18	21532468	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.45232332236475E-5	0.0
18	19112429	G	C	18	21532468	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.87513430027094E-5	0.0
18	19112429	G	T	18	21532468	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.48509302205544E-5	0.006
18	19112430	T	A	18	21532469	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.685163808054148	0.444
18	19112430	T	C	18	21532469	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.904089375514716	0.686
18	19112430	T	G	18	21532469	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.911430810565037	0.524
18	19112431	T	A	18	21532470	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999946056776852	0.964
18	19112431	T	C	18	21532470	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.632659388317054	0.756
18	19112431	T	G	18	21532470	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999643339380867	0.91
18	19112432	A	C	18	21532471	y	y	splicing	ESCO1(NM_052911:exon12:c.2375+2T>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2375+2T>G;ENST00000383276:exon13:c.2499+2T>G)	.	.	0.999992446697775	0.93
18	19112432	A	G	18	21532471	y	y	splicing	ESCO1(NM_052911:exon12:c.2375+2T>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2375+2T>C;ENST00000383276:exon13:c.2499+2T>C)	.	.	0.993224249116124	0.608
18	19112432	A	T	18	21532471	y	y	splicing	ESCO1(NM_052911:exon12:c.2375+2T>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2375+2T>A;ENST00000383276:exon13:c.2499+2T>A)	.	.	0.999992446697775	0.93
18	19112433	C	A	18	21532472	y	y	splicing	ESCO1(NM_052911:exon12:c.2375+1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2375+1G>T;ENST00000383276:exon13:c.2499+1G>T)	.	.	0.999988247793601	0.926
18	19112433	C	G	18	21532472	y	y	splicing	ESCO1(NM_052911:exon12:c.2375+1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2375+1G>C;ENST00000383276:exon13:c.2499+1G>C)	.	.	0.999988247793601	0.926
18	19112433	C	T	18	21532472	y	y	splicing	ESCO1(NM_052911:exon12:c.2375+1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2375+1G>A;ENST00000383276:exon13:c.2499+1G>A)	.	.	0.999988247793601	0.926
18	19112434	C	A	18	21532473	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2375T:p.R792M;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2375T:p.R792M;	0.99990150481483	0.972
18	19112434	C	G	18	21532473	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2375C:p.R792T;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2375C:p.R792T;	0.99999170925215	0.974
18	19112434	C	T	18	21532473	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2375A:p.R792K;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2375A:p.R792K;	0.999985154178943	0.996
18	19112435	T	A	18	21532474	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.A2374T:p.R792W;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.A2374T:p.R792W;	0.99988505584049	0.996
18	19112435	T	C	18	21532474	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.A2374G:p.R792G;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.A2374G:p.R792G;	0.999880145896971	0.998
18	19112435	T	G	18	21532474	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon11:c.A2374C:p.R792R;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.A2374C:p.R792R;	0.990573063881956	0.934
18	19112436	T	A	18	21532475	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon11:c.A2373T:p.L791L;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.A2373T:p.L791L;	0.188233803478756	0.408
18	19112436	T	C	18	21532475	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon11:c.A2373G:p.L791L;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.A2373G:p.L791L;	0.00271212834729613	0.1
18	19112436	T	G	18	21532475	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon11:c.A2373C:p.L791L;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.A2373C:p.L791L;	0.0022142918576891	0.076
18	19112620	C	A	18	21532659	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2189T:p.G730V;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2189T:p.G730V;	0.977731733443374	0.88
18	19112620	C	G	18	21532659	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2189C:p.G730A;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2189C:p.G730A;	0.976627395766123	0.838
18	19112620	C	T	18	21532659	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2189A:p.G730D;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2189A:p.G730D;	0.984751188680687	0.846
18	19112621	C	A	18	21532660	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2188T:p.G730C;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2188T:p.G730C;	0.999932913544148	0.998
18	19112621	C	G	18	21532660	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2188C:p.G730R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2188C:p.G730R;	0.99984023663567	0.982
18	19112621	C	T	18	21532660	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon11:c.G2188A:p.G730S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon11:c.G2188A:p.G730S;	0.999636621672034	0.982
18	19112622	C	A	18	21532661	y	y	splicing	ESCO1(NM_052911:exon12:c.2188-1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2188-1G>T;ENST00000383276:exon13:c.2312-1G>T)	.	.	0.999986675681007	0.932
18	19112622	C	G	18	21532661	y	y	splicing	ESCO1(NM_052911:exon12:c.2188-1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2188-1G>C;ENST00000383276:exon13:c.2312-1G>C)	.	.	0.999986675681007	0.932
18	19112622	C	T	18	21532661	y	y	splicing	ESCO1(NM_052911:exon12:c.2188-1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2188-1G>A;ENST00000383276:exon13:c.2312-1G>A)	.	.	0.999986675681007	0.932
18	19112623	T	A	18	21532662	y	y	splicing	ESCO1(NM_052911:exon12:c.2188-2A>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2188-2A>T;ENST00000383276:exon13:c.2312-2A>T)	.	.	0.999988247793601	0.928
18	19112623	T	C	18	21532662	y	y	splicing	ESCO1(NM_052911:exon12:c.2188-2A>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2188-2A>G;ENST00000383276:exon13:c.2312-2A>G)	.	.	0.999988247793601	0.928
18	19112623	T	G	18	21532662	y	y	splicing	ESCO1(NM_052911:exon12:c.2188-2A>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon12:c.2188-2A>C;ENST00000383276:exon13:c.2312-2A>C)	.	.	0.999988247793601	0.928
18	19112624	A	C	18	21532663	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.998267440522051	0.65
18	19112624	A	G	18	21532663	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.05905158930027E-4	0.028
18	19112624	A	T	18	21532663	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.303647455730472	0.52
18	19112625	C	A	18	21532664	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.20772496759749E-5	0.0
18	19112625	C	G	18	21532664	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.00122079607494E-5	0.0
18	19112625	C	T	18	21532664	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.35494222034438E-5	0.0
18	19112626	A	C	18	21532665	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.959698606365178	0.694
18	19112626	A	G	18	21532665	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0120150602482793	0.09
18	19112626	A	T	18	21532665	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.99945543585222	0.9
18	19112627	G	A	18	21532666	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.60966222503036E-5	0.0
18	19112627	G	C	18	21532666	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.46945474658742E-4	0.146
18	19112627	G	T	18	21532666	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.44817815274772E-4	0.122
18	19112628	G	A	18	21532667	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.11086881391206E-5	0.004
18	19112628	G	C	18	21532667	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999836810051072	0.994
18	19112628	G	T	18	21532667	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00240460289181695	0.092
18	19112629	T	A	18	21532668	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.64800631227048E-4	0.002
18	19112629	T	C	18	21532668	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.16557707424651E-4	0.004
18	19112629	T	G	18	21532668	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.37523249846455E-4	0.0
18	19112630	G	A	18	21532669	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.59126014740216E-5	0.0
18	19112630	G	C	18	21532669	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.99953682185995	0.974
18	19112630	G	T	18	21532669	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.06822935266015E-4	0.022
18	19112631	T	A	18	21532670	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00145209367346654	0.048
18	19112631	T	C	18	21532670	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.1970498088732E-4	0.004
18	19112631	T	G	18	21532670	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.59111603770888E-4	0.002
18	19112632	C	A	18	21532671	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.52269289117012E-5	0.052
18	19112632	C	G	18	21532671	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.35748696897401E-5	0.002
18	19112632	C	T	18	21532671	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.46114382736428E-4	0.024
18	19112633	A	C	18	21532672	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.882820352968963	0.762
18	19112633	A	G	18	21532672	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00181727285390147	0.04
18	19112633	A	T	18	21532672	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999907330604977	0.948
18	19115995	T	A	18	21536034	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0579370398021417	0.168
18	19115995	T	C	18	21536034	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0517906223079821	0.108
18	19115995	T	G	18	21536034	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.115848152367781	0.152
18	19115996	C	A	18	21536035	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.44702585044286E-4	0.0
18	19115996	C	G	18	21536035	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.91809410773698E-4	0.014
18	19115996	C	T	18	21536035	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.38494109998354E-4	0.006
18	19115997	A	C	18	21536036	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.286508889875449	0.34
18	19115997	A	G	18	21536036	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.445629949731915	0.436
18	19115997	A	T	18	21536036	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.444750891777834	0.438
18	19115998	C	A	18	21536037	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999460644682805	0.774
18	19115998	C	G	18	21536037	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.9995481857667	0.94
18	19115998	C	T	18	21536037	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999914166196621	0.898
18	19115999	T	A	18	21536038	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.996569511300061	0.738
18	19115999	T	C	18	21536038	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.993344881908244	0.822
18	19115999	T	G	18	21536038	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.965627039222919	0.622
18	19116000	T	A	18	21536039	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.997039422461799	0.78
18	19116000	T	C	18	21536039	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.15312737735177	0.302
18	19116000	T	G	18	21536039	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.993103877529908	0.682
18	19116001	A	C	18	21536040	y	y	splicing	ESCO1(NM_052911:exon11:c.2187+2T>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2187+2T>G;ENST00000383276:exon12:c.2311+2T>G)	.	.	0.999992446697775	0.93
18	19116001	A	G	18	21536040	y	y	splicing	ESCO1(NM_052911:exon11:c.2187+2T>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2187+2T>C;ENST00000383276:exon12:c.2311+2T>C)	.	.	0.993808943985639	0.644
18	19116001	A	T	18	21536040	y	y	splicing	ESCO1(NM_052911:exon11:c.2187+2T>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2187+2T>A;ENST00000383276:exon12:c.2311+2T>A)	.	.	0.999992446697775	0.93
18	19116002	C	A	18	21536041	y	y	splicing	ESCO1(NM_052911:exon11:c.2187+1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2187+1G>T;ENST00000383276:exon12:c.2311+1G>T)	.	.	0.999989072007339	0.934
18	19116002	C	G	18	21536041	y	y	splicing	ESCO1(NM_052911:exon11:c.2187+1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2187+1G>C;ENST00000383276:exon12:c.2311+1G>C)	.	.	0.999989072007339	0.934
18	19116002	C	T	18	21536041	y	y	splicing	ESCO1(NM_052911:exon11:c.2187+1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2187+1G>A;ENST00000383276:exon12:c.2311+1G>A)	.	.	0.999989072007339	0.934
18	19116003	C	A	18	21536042	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.G2187T:p.W729C;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.G2187T:p.W729C;	0.996807278084615	0.916
18	19116003	C	G	18	21536042	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.G2187C:p.W729C;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.G2187C:p.W729C;	0.9980759734133	0.87
18	19116003	C	T	18	21536042	y	y	exonic	ESCO1	stopgain SNV	ESCO1:NM_052911:exon10:c.G2187A:p.W729X;	exonic	ENSG00000141446	stopgain SNV	ENSG00000141446:ENST00000269214:exon10:c.G2187A:p.W729X;	0.995827237619748	0.854
18	19116004	C	A	18	21536043	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.G2186T:p.W729L;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.G2186T:p.W729L;	0.0918997130031782	0.286
18	19116004	C	G	18	21536043	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.G2186C:p.W729S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.G2186C:p.W729S;	0.00405732087407609	0.13
18	19116004	C	T	18	21536043	y	y	exonic	ESCO1	stopgain SNV	ESCO1:NM_052911:exon10:c.G2186A:p.W729X;	exonic	ENSG00000141446	stopgain SNV	ENSG00000141446:ENST00000269214:exon10:c.G2186A:p.W729X;	0.158541059448132	0.556
18	19116005	A	C	18	21536044	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.T2185G:p.W729G;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.T2185G:p.W729G;	0.00133463796074893	0.038
18	19116005	A	G	18	21536044	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.T2185C:p.W729R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.T2185C:p.W729R;	2.04450276938182E-4	0.01
18	19116005	A	T	18	21536044	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.T2185A:p.W729R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.T2185A:p.W729R;	1.84934328173969E-4	0.004
18	19116145	A	C	18	21536184	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.T2045G:p.V682G;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.T2045G:p.V682G;	0.453138505104691	0.556
18	19116145	A	G	18	21536184	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.T2045C:p.V682A;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.T2045C:p.V682A;	0.367337438903509	0.548
18	19116145	A	T	18	21536184	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.T2045A:p.V682D;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.T2045A:p.V682D;	0.402746951880336	0.53
18	19116146	C	A	18	21536185	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.G2044T:p.V682F;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.G2044T:p.V682F;	0.999550903767475	0.974
18	19116146	C	G	18	21536185	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.G2044C:p.V682L;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.G2044C:p.V682L;	0.999421311411428	0.988
18	19116146	C	T	18	21536185	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon10:c.G2044A:p.V682I;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon10:c.G2044A:p.V682I;	0.999107964418972	0.82
18	19116147	C	A	18	21536186	y	y	splicing	ESCO1(NM_052911:exon11:c.2044-1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2044-1G>T;ENST00000383276:exon12:c.2168-1G>T)	.	.	0.999989072007339	0.934
18	19116147	C	G	18	21536186	y	y	splicing	ESCO1(NM_052911:exon11:c.2044-1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2044-1G>C;ENST00000383276:exon12:c.2168-1G>C)	.	.	0.999989072007339	0.934
18	19116147	C	T	18	21536186	y	y	splicing	ESCO1(NM_052911:exon11:c.2044-1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2044-1G>A;ENST00000383276:exon12:c.2168-1G>A)	.	.	0.999989072007339	0.934
18	19116148	T	A	18	21536187	y	y	splicing	ESCO1(NM_052911:exon11:c.2044-2A>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2044-2A>T;ENST00000383276:exon12:c.2168-2A>T)	.	.	0.999988247793601	0.932
18	19116148	T	C	18	21536187	y	y	splicing	ESCO1(NM_052911:exon11:c.2044-2A>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2044-2A>G;ENST00000383276:exon12:c.2168-2A>G)	.	.	0.999988247793601	0.932
18	19116148	T	G	18	21536187	y	y	splicing	ESCO1(NM_052911:exon11:c.2044-2A>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon11:c.2044-2A>C;ENST00000383276:exon12:c.2168-2A>C)	.	.	0.999988247793601	0.932
18	19116149	G	A	18	21536188	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0272406933895616	0.142
18	19116149	G	C	18	21536188	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999844103529145	0.85
18	19116149	G	T	18	21536188	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.994227615040268	0.856
18	19116150	C	A	18	21536189	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.57383293964943E-4	0.006
18	19116150	C	G	18	21536189	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.79805923803708E-5	0.0
18	19116150	C	T	18	21536189	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.60577724666431E-5	0.002
18	19116151	C	A	18	21536190	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00152147594558051	0.058
18	19116151	C	G	18	21536190	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00261455378420888	0.066
18	19116151	C	T	18	21536190	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.920880915142185	0.494
18	19116152	A	C	18	21536191	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.953011027150545	0.728
18	19116152	A	G	18	21536191	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00259944668268218	0.034
18	19116152	A	T	18	21536191	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999941699620681	0.958
18	19116153	A	C	18	21536192	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.817867563720682	0.52
18	19116153	A	G	18	21536192	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00763874112076327	0.106
18	19116153	A	T	18	21536192	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.952333340743877	0.638
18	19116154	A	C	18	21536193	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999398673519147	0.97
18	19116154	A	G	18	21536193	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.60099863299983E-4	0.026
18	19116154	A	T	18	21536193	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.312631775087376	0.34
18	19116155	T	A	18	21536194	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00110210931133223	0.156
18	19116155	T	C	18	21536194	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.06848164716362E-4	0.064
18	19116155	T	G	18	21536194	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00273717577777374	0.188
18	19116156	A	C	18	21536195	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.997460215417705	0.866
18	19116156	A	G	18	21536195	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.305431913127984	0.416
18	19116156	A	T	18	21536195	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.998968582855778	0.874
18	19116157	A	C	18	21536196	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.99913681950355	0.84
18	19116157	A	G	18	21536196	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.965814106979532	0.488
18	19116157	A	T	18	21536196	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999362901722262	0.94
18	19116158	A	C	18	21536197	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.914837712783356	0.706
18	19116158	A	G	18	21536197	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00284911048683772	0.092
18	19116158	A	T	18	21536197	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.963788819198944	0.76
18	19119873	A	C	18	21539912	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.74850448964824E-6	0.004
18	19119873	A	G	18	21539912	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.74850448964824E-6	0.0
18	19119873	A	T	18	21539912	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.74850448964824E-6	0.0
18	19119874	A	C	18	21539913	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.93831742926587E-5	0.006
18	19119874	A	G	18	21539913	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.55076633896961E-4	0.006
18	19119874	A	T	18	21539913	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.55076633896961E-4	0.008
18	19119875	A	C	18	21539914	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0059036073724528	0.22
18	19119875	A	G	18	21539914	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.21328068267999	0.34
18	19119875	A	T	18	21539914	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.12809285185187	0.236
18	19119876	T	A	18	21539915	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.30423742142992E-5	0.006
18	19119876	T	C	18	21539915	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.6869942807123E-5	0.076
18	19119876	T	G	18	21539915	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.25845824494054E-5	0.022
18	19119877	T	A	18	21539916	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.265606564647223	0.364
18	19119877	T	C	18	21539916	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.281011175060285	0.388
18	19119877	T	G	18	21539916	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.130820701416642	0.376
18	19119878	T	A	18	21539917	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.988142402984226	0.672
18	19119878	T	C	18	21539917	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.22964950296025	0.458
18	19119878	T	G	18	21539917	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.989408993325641	0.728
18	19119879	A	C	18	21539918	y	y	splicing	ESCO1(NM_052911:exon10:c.2043+2T>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.2043+2T>G;ENST00000383276:exon11:c.2167+2T>G)	.	.	0.999988247793601	0.928
18	19119879	A	G	18	21539918	y	y	splicing	ESCO1(NM_052911:exon10:c.2043+2T>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.2043+2T>C;ENST00000383276:exon11:c.2167+2T>C)	.	.	0.994669226766359	0.624
18	19119879	A	T	18	21539918	y	y	splicing	ESCO1(NM_052911:exon10:c.2043+2T>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.2043+2T>A;ENST00000383276:exon11:c.2167+2T>A)	.	.	0.999988247793601	0.928
18	19119880	C	A	18	21539919	y	y	splicing	ESCO1(NM_052911:exon10:c.2043+1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.2043+1G>T;ENST00000383276:exon11:c.2167+1G>T)	.	.	0.999986675681007	0.932
18	19119880	C	G	18	21539919	y	y	splicing	ESCO1(NM_052911:exon10:c.2043+1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.2043+1G>C;ENST00000383276:exon11:c.2167+1G>C)	.	.	0.999986675681007	0.932
18	19119880	C	T	18	21539919	y	y	splicing	ESCO1(NM_052911:exon10:c.2043+1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.2043+1G>A;ENST00000383276:exon11:c.2167+1G>A)	.	.	0.999986675681007	0.932
18	19119881	C	A	18	21539920	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.G2043T:p.K681N;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G2043T:p.K681N;	0.999973950799978	0.984
18	19119881	C	G	18	21539920	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.G2043C:p.K681N;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G2043C:p.K681N;	0.999998312535482	1.0
18	19119881	C	T	18	21539920	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon9:c.G2043A:p.K681K;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G2043A:p.K681K;	0.999588955833307	0.978
18	19119882	T	A	18	21539921	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.A2042T:p.K681M;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.A2042T:p.K681M;	0.999166609366171	0.964
18	19119882	T	C	18	21539921	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.A2042G:p.K681R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.A2042G:p.K681R;	0.999512776130901	0.962
18	19119882	T	G	18	21539921	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.A2042C:p.K681T;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.A2042C:p.K681T;	0.995638062118916	0.864
18	19119883	T	A	18	21539922	y	y	exonic	ESCO1	stopgain SNV	ESCO1:NM_052911:exon9:c.A2041T:p.K681X;	exonic	ENSG00000141446	stopgain SNV	ENSG00000141446:ENST00000269214:exon9:c.A2041T:p.K681X;	0.99236888415211	0.742
18	19119883	T	C	18	21539922	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.A2041G:p.K681E;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.A2041G:p.K681E;	0.15300902984392	0.398
18	19119883	T	G	18	21539922	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.A2041C:p.K681Q;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.A2041C:p.K681Q;	0.545829827464634	0.634
18	19119969	C	A	18	21540008	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.G1955T:p.G652V;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G1955T:p.G652V;	0.978112271934335	0.86
18	19119969	C	G	18	21540008	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.G1955C:p.G652A;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G1955C:p.G652A;	0.95799701380984	0.862
18	19119969	C	T	18	21540008	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.G1955A:p.G652D;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G1955A:p.G652D;	0.975637871248824	0.832
18	19119970	C	A	18	21540009	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.G1954T:p.G652C;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G1954T:p.G652C;ENSG00000141446:ENST00000383276:exon10:c.G2078T:p.G693V;	0.99985543907315	0.99
18	19119970	C	G	18	21540009	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.G1954C:p.G652R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G1954C:p.G652R;ENSG00000141446:ENST00000383276:exon10:c.G2078C:p.G693A;	0.999803270365934	0.964
18	19119970	C	T	18	21540009	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon9:c.G1954A:p.G652S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon9:c.G1954A:p.G652S;ENSG00000141446:ENST00000383276:exon10:c.G2078A:p.G693E;	0.999817610225404	0.942
18	19119971	C	A	18	21540010	y	y	splicing	ESCO1(NM_052911:exon10:c.1954-1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.1954-1G>T;ENST00000383276:exon11:c.2078-1G>T)	.	.	0.99998823328419	0.918
18	19119971	C	G	18	21540010	y	y	splicing	ESCO1(NM_052911:exon10:c.1954-1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.1954-1G>C;ENST00000383276:exon11:c.2078-1G>C)	.	.	0.99998823328419	0.918
18	19119971	C	T	18	21540010	y	y	splicing	ESCO1(NM_052911:exon10:c.1954-1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.1954-1G>A;ENST00000383276:exon11:c.2078-1G>A)	.	.	0.99998823328419	0.92
18	19119972	T	A	18	21540011	y	y	splicing	ESCO1(NM_052911:exon10:c.1954-2A>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.1954-2A>T;ENST00000383276:exon11:c.2078-2A>T)	.	.	0.999979394981131	0.916
18	19119972	T	C	18	21540011	y	y	splicing	ESCO1(NM_052911:exon10:c.1954-2A>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.1954-2A>G;ENST00000383276:exon11:c.2078-2A>G)	.	.	0.999979394981131	0.916
18	19119972	T	G	18	21540011	y	y	splicing	ESCO1(NM_052911:exon10:c.1954-2A>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon10:c.1954-2A>C;ENST00000383276:exon11:c.2078-2A>C)	.	.	0.999979394981131	0.916
18	19119973	A	C	18	21540012	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.993942865837335	0.734
18	19119973	A	G	18	21540012	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.56149865959816E-4	0.04
18	19119973	A	T	18	21540012	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.632364197766702	0.484
18	19119974	G	A	18	21540013	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.921518689575E-6	0.0
18	19119974	G	C	18	21540013	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.14553573341004E-4	0.068
18	19119974	G	T	18	21540013	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.92100508660947E-5	0.01
18	19119975	A	C	18	21540014	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999880260685412	0.964
18	19119975	A	G	18	21540014	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00368565792831023	0.082
18	19119975	A	T	18	21540014	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.64182640289597	0.614
18	19119976	T	A	18	21540015	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.76294831486095E-5	0.028
18	19119976	T	C	18	21540015	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.42209000759498E-5	0.014
18	19119976	T	G	18	21540015	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.5135834627103E-5	0.024
18	19119977	A	C	18	21540016	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999879097556174	0.984
18	19119977	A	G	18	21540016	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.18028674205695E-4	0.016
18	19119977	A	T	18	21540016	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0352723767930326	0.206
18	19119978	T	A	18	21540017	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.52984219247393E-5	0.026
18	19119978	T	C	18	21540017	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.38262746459384E-6	0.002
18	19119978	T	G	18	21540017	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.66523754646648E-5	0.012
18	19119979	A	C	18	21540018	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999806918177965	0.9
18	19119979	A	G	18	21540018	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.69557530564395E-4	0.026
18	19119979	A	T	18	21540018	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0194389495966421	0.288
18	19119980	T	A	18	21540019	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.13895553626133E-4	0.13
18	19119980	T	C	18	21540019	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.38452002426858E-5	0.146
18	19119980	T	G	18	21540019	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.7938783944113E-5	0.132
18	19119981	A	C	18	21540020	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999818627927192	0.714
18	19119981	A	G	18	21540020	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.41109646376682E-4	0.298
18	19119981	A	T	18	21540020	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.399554820600445	0.516
18	19119982	T	A	18	21540021	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.34013519504409E-5	0.032
18	19119982	T	C	18	21540021	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.69938308006731E-5	0.158
18	19119982	T	G	18	21540021	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.34013519504409E-5	0.034
18	19120530	A	C	18	21540569	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.04
18	19120530	A	G	18	21540569	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.026
18	19120530	A	T	18	21540569	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0105600235457959	0.026
18	19120531	T	A	18	21540570	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0105600235457959	0.026
18	19120531	T	C	18	21540570	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.038
18	19120531	T	G	18	21540570	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.012179125450082	0.026
18	19120532	A	C	18	21540571	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.026
18	19120532	A	G	18	21540571	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.012179125450082	0.026
18	19120532	A	T	18	21540571	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0105600235457959	0.026
18	19120533	A	C	18	21540572	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.026
18	19120533	A	G	18	21540572	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.044
18	19120533	A	T	18	21540572	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0105600235457959	0.026
18	19120534	C	A	18	21540573	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0206956358008089	0.058
18	19120534	C	G	18	21540573	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0206956358008089	0.05
18	19120534	C	T	18	21540573	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0206956358008089	0.06
18	19120535	T	A	18	21540574	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0105600235457959	0.026
18	19120535	T	C	18	21540574	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.044
18	19120535	T	G	18	21540574	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.034
18	19120536	A	C	18	21540575	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.2077+2T>G)	.	.	0.804647824592562	0.652
18	19120536	A	G	18	21540575	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.2077+2T>C)	.	.	0.804647824592562	0.652
18	19120536	A	T	18	21540575	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.2077+2T>A)	.	.	0.804178117672893	0.65
18	19120537	C	A	18	21540576	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.2077+1G>T)	.	.	0.992844853960042	0.858
18	19120537	C	G	18	21540576	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.2077+1G>C)	.	.	0.993383568605494	0.86
18	19120537	C	T	18	21540576	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.2077+1G>A)	.	.	0.992844853960042	0.86
18	19120538	C	A	18	21540577	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.G2077T:p.G693W;	0.992844853960042	0.858
18	19120538	C	G	18	21540577	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.G2077C:p.G693R;	0.994751797357394	0.9
18	19120538	C	T	18	21540577	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.G2077A:p.G693R;	0.99415346070056	0.924
18	19120539	T	A	18	21540578	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.A2076T:p.E692D;	0.804647824592562	0.652
18	19120539	T	C	18	21540578	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.A2076G:p.E692E;	0.00473126442337914	0.046
18	19120539	T	G	18	21540578	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.A2076C:p.E692D;	0.804647824592562	0.668
18	19120540	T	A	18	21540579	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.A2075T:p.E692V;	0.848705028267784	0.706
18	19120540	T	C	18	21540579	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.A2075G:p.E692G;	0.848705028267784	0.71
18	19120540	T	G	18	21540579	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.A2075C:p.E692A;	0.804178117672893	0.658
18	19120660	A	C	18	21540699	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.T1955G:p.V652G;	0.804647824592562	0.672
18	19120660	A	G	18	21540699	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.T1955C:p.V652A;	0.848705028267784	0.72
18	19120660	A	T	18	21540699	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.T1955A:p.V652D;	0.804178117672893	0.65
18	19120661	C	A	18	21540700	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.G1954T:p.V652F;	0.994029703713196	0.894
18	19120661	C	G	18	21540700	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.G1954C:p.V652L;	0.993349593042562	0.93
18	19120661	C	T	18	21540700	n	y	intronic	ESCO1	.	.	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000383276:exon9:c.G1954A:p.V652I;	0.991423892014245	0.926
18	19120662	C	A	18	21540701	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.1954-1G>T)	.	.	0.992474646220614	0.86
18	19120662	C	G	18	21540701	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.1954-1G>C)	.	.	0.992474646220614	0.858
18	19120662	C	T	18	21540701	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.1954-1G>A)	.	.	0.991862532680307	0.858
18	19120663	T	A	18	21540702	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.1954-2A>T)	.	.	0.804178117672893	0.652
18	19120663	T	C	18	21540702	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.1954-2A>G)	.	.	0.804647824592562	0.664
18	19120663	T	G	18	21540702	n	y	intronic	ESCO1	.	.	splicing	ENSG00000141446(ENST00000383276:exon10:c.1954-2A>C)	.	.	0.804647824592562	0.664
18	19120664	G	A	18	21540703	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0203041913402469	0.048
18	19120664	G	C	18	21540703	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0181969847446306	0.048
18	19120664	G	T	18	21540703	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0181969847446306	0.044
18	19120665	C	A	18	21540704	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00165246715192003	0.018
18	19120665	C	G	18	21540704	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00165246715192003	0.018
18	19120665	C	T	18	21540704	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00244344124916092	0.026
18	19120666	A	C	18	21540705	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.028
18	19120666	A	G	18	21540705	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.034
18	19120666	A	T	18	21540705	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.028
18	19120667	T	A	18	21540706	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.024
18	19120667	T	C	18	21540706	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.024
18	19120667	T	G	18	21540706	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00712145416375606	0.024
18	19120668	A	C	18	21540707	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.44634039134154E-4	0.086
18	19120668	A	G	18	21540707	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.44634039134154E-4	0.114
18	19120668	A	T	18	21540707	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.44634039134154E-4	0.084
18	19120669	A	C	18	21540708	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00594201348213549	0.016
18	19120669	A	G	18	21540708	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00594201348213549	0.016
18	19120669	A	T	18	21540708	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00594201348213549	0.02
18	19120670	A	C	18	21540709	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.777774320792132	0.662
18	19120670	A	G	18	21540709	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.777774320792132	0.662
18	19120670	A	T	18	21540709	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.777257885594377	0.662
18	19120671	A	C	18	21540710	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.804647824592562	0.674
18	19120671	A	G	18	21540710	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.804647824592562	0.676
18	19120671	A	T	18	21540710	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.804647824592562	0.652
18	19120672	A	C	18	21540711	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.781058711540714	0.696
18	19120672	A	G	18	21540711	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.781058711540714	0.696
18	19120672	A	T	18	21540711	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.781058711540714	0.688
18	19120673	A	C	18	21540712	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.781058711540714	0.698
18	19120673	A	G	18	21540712	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.781058711540714	0.698
18	19120673	A	T	18	21540712	n	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.781058711540714	0.696
18	19140812	C	A	18	21560851	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.28522963573418E-4	0.01
18	19140812	C	G	18	21560851	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.75218071009454E-4	0.012
18	19140812	C	T	18	21560851	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.43100791824472E-4	0.004
18	19140813	C	A	18	21560852	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.18203232015174E-4	0.012
18	19140813	C	G	18	21560852	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.61367374532553E-4	0.016
18	19140813	C	T	18	21560852	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.74698743826267E-4	0.016
18	19140814	A	C	18	21560853	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.175144779669532	0.392
18	19140814	A	G	18	21560853	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.45420398974199	0.528
18	19140814	A	T	18	21560853	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.775519408115324	0.552
18	19140815	C	A	18	21560854	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999725083972031	0.81
18	19140815	C	G	18	21560854	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999676185966365	0.91
18	19140815	C	T	18	21560854	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999869381626255	0.89
18	19140816	T	A	18	21560855	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.934703670225774	0.664
18	19140816	T	C	18	21560855	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.957285282357512	0.612
18	19140816	T	G	18	21560855	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.880369278080338	0.416
18	19140817	T	A	18	21560856	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.998815178986958	0.962
18	19140817	T	C	18	21560856	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.975342230583991	0.542
18	19140817	T	G	18	21560856	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999422089167649	0.976
18	19140818	A	C	18	21560857	y	y	splicing	ESCO1(NM_052911:exon9:c.1953+2T>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1953+2T>G;ENST00000383276:exon9:c.1953+2T>G)	.	.	0.999988247793601	0.932
18	19140818	A	G	18	21560857	y	y	splicing	ESCO1(NM_052911:exon9:c.1953+2T>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1953+2T>C;ENST00000383276:exon9:c.1953+2T>C)	.	.	0.99340600729494	0.712
18	19140818	A	T	18	21560857	y	y	splicing	ESCO1(NM_052911:exon9:c.1953+2T>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1953+2T>A;ENST00000383276:exon9:c.1953+2T>A)	.	.	0.999988247793601	0.932
18	19140819	C	A	18	21560858	y	y	splicing	ESCO1(NM_052911:exon9:c.1953+1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1953+1G>T;ENST00000383276:exon9:c.1953+1G>T)	.	.	0.999990361384395	0.938
18	19140819	C	G	18	21560858	y	y	splicing	ESCO1(NM_052911:exon9:c.1953+1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1953+1G>C;ENST00000383276:exon9:c.1953+1G>C)	.	.	0.999990361384395	0.938
18	19140819	C	T	18	21560858	y	y	splicing	ESCO1(NM_052911:exon9:c.1953+1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1953+1G>A;ENST00000383276:exon9:c.1953+1G>A)	.	.	0.999990361384395	0.938
18	19140820	C	A	18	21560859	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon8:c.G1953T:p.V651V;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1953T:p.V651V;ENSG00000141446:ENST00000383276:exon8:c.G1953T:p.V651V;	0.998922444065968	0.92
18	19140820	C	G	18	21560859	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon8:c.G1953C:p.V651V;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1953C:p.V651V;ENSG00000141446:ENST00000383276:exon8:c.G1953C:p.V651V;	0.999741323637643	0.918
18	19140820	C	T	18	21560859	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon8:c.G1953A:p.V651V;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1953A:p.V651V;ENSG00000141446:ENST00000383276:exon8:c.G1953A:p.V651V;	0.999869784339527	0.978
18	19140821	A	C	18	21560860	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.T1952G:p.V651G;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.T1952G:p.V651G;ENSG00000141446:ENST00000383276:exon8:c.T1952G:p.V651G;	0.966546698007034	0.894
18	19140821	A	G	18	21560860	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.T1952C:p.V651A;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.T1952C:p.V651A;ENSG00000141446:ENST00000383276:exon8:c.T1952C:p.V651A;	0.960380466240122	0.912
18	19140821	A	T	18	21560860	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.T1952A:p.V651E;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.T1952A:p.V651E;ENSG00000141446:ENST00000383276:exon8:c.T1952A:p.V651E;	0.813056153920472	0.66
18	19140822	C	A	18	21560861	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.G1951T:p.V651L;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1951T:p.V651L;ENSG00000141446:ENST00000383276:exon8:c.G1951T:p.V651L;	0.995483803225426	0.938
18	19140822	C	G	18	21560861	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.G1951C:p.V651L;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1951C:p.V651L;ENSG00000141446:ENST00000383276:exon8:c.G1951C:p.V651L;	0.97145887165085	0.796
18	19140822	C	T	18	21560861	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.G1951A:p.V651M;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1951A:p.V651M;ENSG00000141446:ENST00000383276:exon8:c.G1951A:p.V651M;	0.9698242871012	0.824
18	19140950	T	A	18	21560989	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.A1823T:p.D608V;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.A1823T:p.D608V;ENSG00000141446:ENST00000383276:exon8:c.A1823T:p.D608V;	0.783551045905172	0.71
18	19140950	T	C	18	21560989	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.A1823G:p.D608G;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.A1823G:p.D608G;ENSG00000141446:ENST00000383276:exon8:c.A1823G:p.D608G;	0.762151337552075	0.574
18	19140950	T	G	18	21560989	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.A1823C:p.D608A;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.A1823C:p.D608A;ENSG00000141446:ENST00000383276:exon8:c.A1823C:p.D608A;	0.784913612773478	0.786
18	19140951	C	A	18	21560990	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.G1822T:p.D608Y;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1822T:p.D608Y;ENSG00000141446:ENST00000383276:exon8:c.G1822T:p.D608Y;	0.999918098453446	1.0
18	19140951	C	G	18	21560990	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.G1822C:p.D608H;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1822C:p.D608H;ENSG00000141446:ENST00000383276:exon8:c.G1822C:p.D608H;	0.999852757913639	0.986
18	19140951	C	T	18	21560990	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon8:c.G1822A:p.D608N;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon8:c.G1822A:p.D608N;ENSG00000141446:ENST00000383276:exon8:c.G1822A:p.D608N;	0.999691658696854	0.924
18	19140952	C	A	18	21560991	y	y	splicing	ESCO1(NM_052911:exon9:c.1822-1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1822-1G>T;ENST00000383276:exon9:c.1822-1G>T)	.	.	0.999989072007339	0.932
18	19140952	C	G	18	21560991	y	y	splicing	ESCO1(NM_052911:exon9:c.1822-1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1822-1G>C;ENST00000383276:exon9:c.1822-1G>C)	.	.	0.999989072007339	0.932
18	19140952	C	T	18	21560991	y	y	splicing	ESCO1(NM_052911:exon9:c.1822-1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1822-1G>A;ENST00000383276:exon9:c.1822-1G>A)	.	.	0.999989072007339	0.932
18	19140953	T	A	18	21560992	y	y	splicing	ESCO1(NM_052911:exon9:c.1822-2A>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1822-2A>T;ENST00000383276:exon9:c.1822-2A>T)	.	.	0.999988247793601	0.928
18	19140953	T	C	18	21560992	y	y	splicing	ESCO1(NM_052911:exon9:c.1822-2A>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1822-2A>G;ENST00000383276:exon9:c.1822-2A>G)	.	.	0.999988247793601	0.928
18	19140953	T	G	18	21560992	y	y	splicing	ESCO1(NM_052911:exon9:c.1822-2A>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon9:c.1822-2A>C;ENST00000383276:exon9:c.1822-2A>C)	.	.	0.999988247793601	0.928
18	19140954	A	C	18	21560993	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999401915028435	0.78
18	19140954	A	G	18	21560993	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.3916292323426E-4	0.004
18	19140954	A	T	18	21560993	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0623970511165953	0.226
18	19140955	T	A	18	21560994	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.06619371081971E-4	0.036
18	19140955	T	C	18	21560994	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.938584718821728	0.744
18	19140955	T	G	18	21560994	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.36066317915337E-4	0.012
18	19140956	T	A	18	21560995	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.15393751131391E-4	0.022
18	19140956	T	C	18	21560995	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.998672213087123	0.932
18	19140956	T	G	18	21560995	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00123323173155278	0.022
18	19140957	T	A	18	21560996	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.21770450045607E-5	0.004
18	19140957	T	C	18	21560996	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.61920704378188E-5	0.0
18	19140957	T	G	18	21560996	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.21770450045607E-5	0.0
18	19140958	A	C	18	21560997	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.206100618480638	0.378
18	19140958	A	G	18	21560997	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00131900871118626	0.042
18	19140958	A	T	18	21560997	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.269413094590123	0.47
18	19140959	C	A	18	21560998	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.27219349862041E-5	0.0
18	19140959	C	G	18	21560998	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.27219349862041E-5	0.0
18	19140959	C	T	18	21560998	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.30892273828795E-5	0.032
18	19140960	A	C	18	21560999	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.846075428019735	0.632
18	19140960	A	G	18	21560999	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00123225316857655	0.072
18	19140960	A	T	18	21560999	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999945904295388	0.978
18	19140961	A	C	18	21561000	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.998343804438113	0.732
18	19140961	A	G	18	21561000	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.180930618495822	0.266
18	19140961	A	T	18	21561000	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999456025779488	0.864
18	19140962	A	C	18	21561001	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.989118595776402	0.798
18	19140962	A	G	18	21561001	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.120513145576637	0.268
18	19140962	A	T	18	21561001	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.997242518786748	0.916
18	19140963	A	C	18	21561002	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.945033932124692	0.584
18	19140963	A	G	18	21561002	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00231529800975495	0.088
18	19140963	A	T	18	21561002	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.992936508486642	0.778
18	19144156	G	A	18	21564195	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.15020457490687E-5	0.0
18	19144156	G	C	18	21564195	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.95811058014084E-5	0.0
18	19144156	G	T	18	21564195	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.20700447125729E-5	0.0
18	19144157	T	A	18	21564196	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.05023602570591E-4	0.002
18	19144157	T	C	18	21564196	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.32619511810652E-5	0.002
18	19144157	T	G	18	21564196	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.32619511810652E-5	0.002
18	19144158	A	C	18	21564197	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.957147159945127	0.708
18	19144158	A	G	18	21564197	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.920870753886492	0.628
18	19144158	A	T	18	21564197	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.969449358377134	0.658
18	19144159	C	A	18	21564198	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999977924497453	0.972
18	19144159	C	G	18	21564198	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999975626060327	0.956
18	19144159	C	T	18	21564198	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999975773150015	0.986
18	19144160	T	A	18	21564199	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.997749863524271	0.85
18	19144160	T	C	18	21564199	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.977651883641513	0.782
18	19144160	T	G	18	21564199	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.935960119159204	0.73
18	19144161	T	A	18	21564200	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999736090017729	0.902
18	19144161	T	C	18	21564200	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.106498700706155	0.35
18	19144161	T	G	18	21564200	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999646634389046	0.902
18	19144162	A	C	18	21564201	y	y	splicing	ESCO1(NM_052911:exon8:c.1821+2T>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1821+2T>G;ENST00000383276:exon8:c.1821+2T>G)	.	.	0.999989917668626	0.926
18	19144162	A	G	18	21564201	y	y	splicing	ESCO1(NM_052911:exon8:c.1821+2T>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1821+2T>C;ENST00000383276:exon8:c.1821+2T>C)	.	.	0.988809971481602	0.626
18	19144162	A	T	18	21564201	y	y	splicing	ESCO1(NM_052911:exon8:c.1821+2T>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1821+2T>A;ENST00000383276:exon8:c.1821+2T>A)	.	.	0.999989917668626	0.928
18	19144163	C	A	18	21564202	y	y	splicing	ESCO1(NM_052911:exon8:c.1821+1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1821+1G>T;ENST00000383276:exon8:c.1821+1G>T)	.	.	0.999981760802075	0.94
18	19144163	C	G	18	21564202	y	y	splicing	ESCO1(NM_052911:exon8:c.1821+1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1821+1G>C;ENST00000383276:exon8:c.1821+1G>C)	.	.	0.999981760802075	0.938
18	19144163	C	T	18	21564202	y	y	splicing	ESCO1(NM_052911:exon8:c.1821+1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1821+1G>A;ENST00000383276:exon8:c.1821+1G>A)	.	.	0.999981760802075	0.94
18	19144164	T	A	18	21564203	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon7:c.A1821T:p.I607I;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.A1821T:p.I607I;ENSG00000141446:ENST00000383276:exon7:c.A1821T:p.I607I;	0.00611355840182327	0.144
18	19144164	T	C	18	21564203	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.A1821G:p.I607M;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.A1821G:p.I607M;ENSG00000141446:ENST00000383276:exon7:c.A1821G:p.I607M;	0.247183905029634	0.36
18	19144164	T	G	18	21564203	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon7:c.A1821C:p.I607I;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.A1821C:p.I607I;ENSG00000141446:ENST00000383276:exon7:c.A1821C:p.I607I;	0.00730582086032029	0.158
18	19144165	A	C	18	21564204	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.T1820G:p.I607R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.T1820G:p.I607R;ENSG00000141446:ENST00000383276:exon7:c.T1820G:p.I607R;	0.965962510874975	0.904
18	19144165	A	G	18	21564204	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.T1820C:p.I607T;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.T1820C:p.I607T;ENSG00000141446:ENST00000383276:exon7:c.T1820C:p.I607T;	0.412531052804927	0.602
18	19144165	A	T	18	21564204	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.T1820A:p.I607K;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.T1820A:p.I607K;ENSG00000141446:ENST00000383276:exon7:c.T1820A:p.I607K;	0.585048037745835	0.644
18	19144166	T	A	18	21564205	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.A1819T:p.I607L;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.A1819T:p.I607L;ENSG00000141446:ENST00000383276:exon7:c.A1819T:p.I607L;	0.811507483633968	0.516
18	19144166	T	C	18	21564205	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.A1819G:p.I607V;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.A1819G:p.I607V;ENSG00000141446:ENST00000383276:exon7:c.A1819G:p.I607V;	0.111560231745405	0.428
18	19144166	T	G	18	21564205	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.A1819C:p.I607L;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.A1819C:p.I607L;ENSG00000141446:ENST00000383276:exon7:c.A1819C:p.I607L;	0.0910472437998338	0.462
18	19144277	C	A	18	21564316	y	y	exonic	ESCO1	stopgain SNV	ESCO1:NM_052911:exon7:c.G1708T:p.E570X;	exonic	ENSG00000141446	stopgain SNV	ENSG00000141446:ENST00000269214:exon7:c.G1708T:p.E570X;ENSG00000141446:ENST00000383276:exon7:c.G1708T:p.E570X;	0.00422344758653967	0.444
18	19144277	C	G	18	21564316	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.G1708C:p.E570Q;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.G1708C:p.E570Q;ENSG00000141446:ENST00000383276:exon7:c.G1708C:p.E570Q;	1.37982389130856E-4	0.012
18	19144277	C	T	18	21564316	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.G1708A:p.E570K;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.G1708A:p.E570K;ENSG00000141446:ENST00000383276:exon7:c.G1708A:p.E570K;	1.62468719229059E-4	0.01
18	19144278	C	A	18	21564317	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.G1707T:p.R569S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.G1707T:p.R569S;ENSG00000141446:ENST00000383276:exon7:c.G1707T:p.R569S;	0.998716661538739	0.962
18	19144278	C	G	18	21564317	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon7:c.G1707C:p.R569S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.G1707C:p.R569S;ENSG00000141446:ENST00000383276:exon7:c.G1707C:p.R569S;	0.985201487347861	0.862
18	19144278	C	T	18	21564317	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon7:c.G1707A:p.R569R;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon7:c.G1707A:p.R569R;ENSG00000141446:ENST00000383276:exon7:c.G1707A:p.R569R;	0.0645109386234008	0.288
18	19144279	C	A	18	21564318	y	y	splicing	ESCO1(NM_052911:exon8:c.1707-1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1707-1G>T;ENST00000383276:exon8:c.1707-1G>T)	.	.	0.999910822459116	0.898
18	19144279	C	G	18	21564318	y	y	splicing	ESCO1(NM_052911:exon8:c.1707-1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1707-1G>C;ENST00000383276:exon8:c.1707-1G>C)	.	.	0.999910822459116	0.892
18	19144279	C	T	18	21564318	y	y	splicing	ESCO1(NM_052911:exon8:c.1707-1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1707-1G>A;ENST00000383276:exon8:c.1707-1G>A)	.	.	0.999910822459116	0.892
18	19144280	T	A	18	21564319	y	y	splicing	ESCO1(NM_052911:exon8:c.1707-2A>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1707-2A>T;ENST00000383276:exon8:c.1707-2A>T)	.	.	0.999723362408633	0.796
18	19144280	T	C	18	21564319	y	y	splicing	ESCO1(NM_052911:exon8:c.1707-2A>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1707-2A>G;ENST00000383276:exon8:c.1707-2A>G)	.	.	0.999713715289769	0.782
18	19144280	T	G	18	21564319	y	y	splicing	ESCO1(NM_052911:exon8:c.1707-2A>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon8:c.1707-2A>C;ENST00000383276:exon8:c.1707-2A>C)	.	.	0.999713715289769	0.788
18	19144281	T	A	18	21564320	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.69291891705492E-4	0.024
18	19144281	T	C	18	21564320	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.723541307728394	0.552
18	19144281	T	G	18	21564320	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.36375460573703E-4	0.066
18	19144282	A	C	18	21564321	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.78246167538272E-4	0.044
18	19144282	A	G	18	21564321	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.39891387581929E-5	0.022
18	19144282	A	T	18	21564321	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.50589925017717E-5	0.01
18	19144283	A	C	18	21564322	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0336762095617831	0.236
18	19144283	A	G	18	21564322	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00156794532502082	0.094
18	19144283	A	T	18	21564322	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00412866565562559	0.166
18	19144284	A	C	18	21564323	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0478277409236345	0.194
18	19144284	A	G	18	21564323	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.48106489225185E-4	0.128
18	19144284	A	T	18	21564323	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00439408536512347	0.112
18	19144285	A	C	18	21564324	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00216556348215858	0.08
18	19144285	A	G	18	21564324	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.9689805592741E-5	0.0
18	19144285	A	T	18	21564324	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0062636650691041	0.096
18	19144286	A	C	18	21564325	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.99353593461554E-4	0.024
18	19144286	A	G	18	21564325	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.65594885918494E-5	0.0
18	19144286	A	T	18	21564325	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.50901780005212E-4	0.032
18	19144287	A	C	18	21564326	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00174140710437572	0.15
18	19144287	A	G	18	21564326	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.9853594212216E-4	0.036
18	19144287	A	T	18	21564326	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0114069342151293	0.178
18	19144288	A	C	18	21564327	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00195615217661595	0.166
18	19144288	A	G	18	21564327	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.29937246582795E-4	0.008
18	19144288	A	T	18	21564327	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00745565920233554	0.084
18	19144289	A	C	18	21564328	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999587216452005	0.91
18	19144289	A	G	18	21564328	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00156274928945559	0.114
18	19144289	A	T	18	21564328	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00626285884002991	0.154
18	19144290	T	A	18	21564329	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.48535030300648E-5	0.004
18	19144290	T	C	18	21564329	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.59311938279047E-5	0.012
18	19144290	T	G	18	21564329	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.44149590031716E-6	0.0
18	19146099	T	A	18	21566138	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.96754428605464E-5	0.0
18	19146099	T	C	18	21566138	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.39645456151849E-5	0.0
18	19146099	T	G	18	21566138	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.29649089108586E-5	0.002
18	19146100	A	C	18	21566139	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.61276565553902E-4	0.006
18	19146100	A	G	18	21566139	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.49698415937713E-4	0.008
18	19146100	A	T	18	21566139	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.56479954868688E-4	0.004
18	19146101	G	A	18	21566140	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.95117205113051E-5	0.004
18	19146101	G	C	18	21566140	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.52243090841996E-5	0.026
18	19146101	G	T	18	21566140	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.13562859224349E-5	0.01
18	19146102	C	A	18	21566141	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.924163618439452	0.75
18	19146102	C	G	18	21566141	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.818178222509834	0.502
18	19146102	C	T	18	21566141	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.87499847466266	0.55
18	19146103	T	A	18	21566142	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.576846438846961	0.526
18	19146103	T	C	18	21566142	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.315328567760771	0.444
18	19146103	T	G	18	21566142	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.335488384608985	0.544
18	19146104	T	A	18	21566143	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.978053044773054	0.672
18	19146104	T	C	18	21566143	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0178615490731041	0.124
18	19146104	T	G	18	21566143	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.982119112964631	0.656
18	19146105	A	C	18	21566144	y	y	splicing	ESCO1(NM_052911:exon7:c.1706+2T>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1706+2T>G;ENST00000383276:exon7:c.1706+2T>G)	.	.	0.999978791067592	0.926
18	19146105	A	G	18	21566144	y	y	splicing	ESCO1(NM_052911:exon7:c.1706+2T>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1706+2T>C;ENST00000383276:exon7:c.1706+2T>C)	.	.	0.98317218275015	0.622
18	19146105	A	T	18	21566144	y	y	splicing	ESCO1(NM_052911:exon7:c.1706+2T>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1706+2T>A;ENST00000383276:exon7:c.1706+2T>A)	.	.	0.999991781128047	0.926
18	19146106	C	A	18	21566145	y	y	splicing	ESCO1(NM_052911:exon7:c.1706+1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1706+1G>T;ENST00000383276:exon7:c.1706+1G>T)	.	.	0.99994568797423	0.928
18	19146106	C	G	18	21566145	y	y	splicing	ESCO1(NM_052911:exon7:c.1706+1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1706+1G>C;ENST00000383276:exon7:c.1706+1G>C)	.	.	0.99994568797423	0.93
18	19146106	C	T	18	21566145	y	y	splicing	ESCO1(NM_052911:exon7:c.1706+1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1706+1G>A;ENST00000383276:exon7:c.1706+1G>A)	.	.	0.999978952611685	0.928
18	19146107	C	A	18	21566146	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.G1706T:p.R569M;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.G1706T:p.R569M;ENSG00000141446:ENST00000383276:exon6:c.G1706T:p.R569M;	0.999764626581479	0.952
18	19146107	C	G	18	21566146	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.G1706C:p.R569T;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.G1706C:p.R569T;ENSG00000141446:ENST00000383276:exon6:c.G1706C:p.R569T;	0.999869554383423	0.97
18	19146107	C	T	18	21566146	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.G1706A:p.R569K;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.G1706A:p.R569K;ENSG00000141446:ENST00000383276:exon6:c.G1706A:p.R569K;	0.999747055394027	0.98
18	19146108	T	A	18	21566147	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.A1705T:p.R569W;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.A1705T:p.R569W;ENSG00000141446:ENST00000383276:exon6:c.A1705T:p.R569W;	0.992178364647175	0.634
18	19146108	T	C	18	21566147	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.A1705G:p.R569G;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.A1705G:p.R569G;ENSG00000141446:ENST00000383276:exon6:c.A1705G:p.R569G;	0.994720975530686	0.914
18	19146108	T	G	18	21566147	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon6:c.A1705C:p.R569R;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.A1705C:p.R569R;ENSG00000141446:ENST00000383276:exon6:c.A1705C:p.R569R;	0.741403540654032	0.476
18	19146109	G	A	18	21566148	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon6:c.C1704T:p.N568N;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.C1704T:p.N568N;ENSG00000141446:ENST00000383276:exon6:c.C1704T:p.N568N;	0.00441326737141299	0.156
18	19146109	G	C	18	21566148	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.C1704G:p.N568K;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.C1704G:p.N568K;ENSG00000141446:ENST00000383276:exon6:c.C1704G:p.N568K;	9.5513271216764E-4	0.016
18	19146109	G	T	18	21566148	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.C1704A:p.N568K;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.C1704A:p.N568K;ENSG00000141446:ENST00000383276:exon6:c.C1704A:p.N568K;	0.00126654432832865	0.056
18	19146166	A	C	18	21566205	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon6:c.T1647G:p.G549G;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.T1647G:p.G549G;ENSG00000141446:ENST00000383276:exon6:c.T1647G:p.G549G;	0.00530231837912559	0.174
18	19146166	A	G	18	21566205	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon6:c.T1647C:p.G549G;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.T1647C:p.G549G;ENSG00000141446:ENST00000383276:exon6:c.T1647C:p.G549G;	0.00253820644687959	0.168
18	19146166	A	T	18	21566205	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon6:c.T1647A:p.G549G;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.T1647A:p.G549G;ENSG00000141446:ENST00000383276:exon6:c.T1647A:p.G549G;	0.0146328391025959	0.222
18	19146167	C	A	18	21566206	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.G1646T:p.G549V;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.G1646T:p.G549V;ENSG00000141446:ENST00000383276:exon6:c.G1646T:p.G549V;	0.999720511923457	0.982
18	19146167	C	G	18	21566206	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.G1646C:p.G549A;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.G1646C:p.G549A;ENSG00000141446:ENST00000383276:exon6:c.G1646C:p.G549A;	0.92025884945535	0.818
18	19146167	C	T	18	21566206	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon6:c.G1646A:p.G549D;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon6:c.G1646A:p.G549D;ENSG00000141446:ENST00000383276:exon6:c.G1646A:p.G549D;	0.845951471998873	0.652
18	19146168	C	A	18	21566207	y	y	splicing	ESCO1(NM_052911:exon7:c.1646-1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1646-1G>T;ENST00000383276:exon7:c.1646-1G>T)	.	.	0.999990764389106	0.934
18	19146168	C	G	18	21566207	y	y	splicing	ESCO1(NM_052911:exon7:c.1646-1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1646-1G>C;ENST00000383276:exon7:c.1646-1G>C)	.	.	0.999990764389106	0.928
18	19146168	C	T	18	21566207	y	y	splicing	ESCO1(NM_052911:exon7:c.1646-1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1646-1G>A;ENST00000383276:exon7:c.1646-1G>A)	.	.	0.999990764389106	0.934
18	19146169	T	A	18	21566208	y	y	splicing	ESCO1(NM_052911:exon7:c.1646-2A>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1646-2A>T;ENST00000383276:exon7:c.1646-2A>T)	.	.	0.999995027806847	0.936
18	19146169	T	C	18	21566208	y	y	splicing	ESCO1(NM_052911:exon7:c.1646-2A>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1646-2A>G;ENST00000383276:exon7:c.1646-2A>G)	.	.	0.999995027806847	0.922
18	19146169	T	G	18	21566208	y	y	splicing	ESCO1(NM_052911:exon7:c.1646-2A>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon7:c.1646-2A>C;ENST00000383276:exon7:c.1646-2A>C)	.	.	0.999995027806847	0.89
18	19146170	G	A	18	21566209	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0586525534969014	0.216
18	19146170	G	C	18	21566209	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999705401159897	0.78
18	19146170	G	T	18	21566209	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.955981296600131	0.824
18	19146171	T	A	18	21566210	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00701292751405881	0.122
18	19146171	T	C	18	21566210	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00692462758174147	0.136
18	19146171	T	G	18	21566210	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00401394366079424	0.032
18	19146172	A	C	18	21566211	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.893552154954458	0.494
18	19146172	A	G	18	21566211	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0027624559602592	0.182
18	19146172	A	T	18	21566211	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.868980529435907	0.492
18	19146173	A	C	18	21566212	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999927191377668	0.974
18	19146173	A	G	18	21566212	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00276490478232801	0.1
18	19146173	A	T	18	21566212	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.626269333045453	0.574
18	19146174	T	A	18	21566213	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.20561911767088E-5	0.0
18	19146174	T	C	18	21566213	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.975703472349563	0.966
18	19146174	T	G	18	21566213	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.20561911767088E-5	0.0
18	19146175	T	A	18	21566214	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00289528905733189	0.028
18	19146175	T	C	18	21566214	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.998400772635233	0.898
18	19146175	T	G	18	21566214	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0012854348315694	0.022
18	19146176	T	A	18	21566215	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.400637211179484	0.39
18	19146176	T	C	18	21566215	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.362378908293617	0.384
18	19146176	T	G	18	21566215	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.392022916247578	0.434
18	19146177	A	C	18	21566216	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999334626996827	0.88
18	19146177	A	G	18	21566216	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0336545590028782	0.242
18	19146177	A	T	18	21566216	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999073110246667	0.874
18	19146178	A	C	18	21566217	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999984622554097	0.974
18	19146178	A	G	18	21566217	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.962037689141126	0.664
18	19146178	A	T	18	21566217	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999426888054111	0.908
18	19146179	T	A	18	21566218	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00325952879027619	0.086
18	19146179	T	C	18	21566218	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00563951976460731	0.028
18	19146179	T	G	18	21566218	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00202623600003936	0.036
18	19147933	A	C	18	21567972	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00261998262681094	0.006
18	19147933	A	G	18	21567972	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.73078745793497E-4	0.004
18	19147933	A	T	18	21567972	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00252564498784633	0.004
18	19147934	G	A	18	21567973	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0132867784171185	0.132
18	19147934	G	C	18	21567973	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0027264461529819	0.092
18	19147934	G	T	18	21567973	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00421123062529641	0.042
18	19147935	T	A	18	21567974	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.84463347114191E-4	0.028
18	19147935	T	C	18	21567974	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.7824242720569E-4	0.0
18	19147935	T	G	18	21567974	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00412927292501703	0.116
18	19147936	A	C	18	21567975	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.59566897908031E-4	0.036
18	19147936	A	G	18	21567975	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.1524771327842E-5	0.022
18	19147936	A	T	18	21567975	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.45942664863356E-4	0.022
18	19147937	T	A	18	21567976	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.642157785955546	0.382
18	19147937	T	C	18	21567976	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.567553112473175	0.468
18	19147937	T	G	18	21567976	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.13113733837615	0.29
18	19147938	T	A	18	21567977	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.99989669709766	0.966
18	19147938	T	C	18	21567977	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.99950391473223	0.922
18	19147938	T	G	18	21567977	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999800228690034	0.994
18	19147939	A	C	18	21567978	y	y	splicing	ESCO1(NM_052911:exon6:c.1645+2T>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1645+2T>G;ENST00000383276:exon6:c.1645+2T>G)	.	.	0.999988247793601	0.922
18	19147939	A	G	18	21567978	y	y	splicing	ESCO1(NM_052911:exon6:c.1645+2T>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1645+2T>C;ENST00000383276:exon6:c.1645+2T>C)	.	.	0.995320650369382	0.696
18	19147939	A	T	18	21567978	y	y	splicing	ESCO1(NM_052911:exon6:c.1645+2T>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1645+2T>A;ENST00000383276:exon6:c.1645+2T>A)	.	.	0.999988247793601	0.924
18	19147940	C	A	18	21567979	y	y	splicing	ESCO1(NM_052911:exon6:c.1645+1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1645+1G>T;ENST00000383276:exon6:c.1645+1G>T)	.	.	0.999990361384395	0.932
18	19147940	C	G	18	21567979	y	y	splicing	ESCO1(NM_052911:exon6:c.1645+1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1645+1G>C;ENST00000383276:exon6:c.1645+1G>C)	.	.	0.999990361384395	0.932
18	19147940	C	T	18	21567979	y	y	splicing	ESCO1(NM_052911:exon6:c.1645+1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1645+1G>A;ENST00000383276:exon6:c.1645+1G>A)	.	.	0.999990361384395	0.932
18	19147941	C	A	18	21567980	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.G1645T:p.G549C;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.G1645T:p.G549C;ENSG00000141446:ENST00000383276:exon5:c.G1645T:p.G549C;	0.999993018555097	1.0
18	19147941	C	G	18	21567980	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.G1645C:p.G549R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.G1645C:p.G549R;ENSG00000141446:ENST00000383276:exon5:c.G1645C:p.G549R;	0.999997001934645	1.0
18	19147941	C	T	18	21567980	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.G1645A:p.G549S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.G1645A:p.G549S;ENSG00000141446:ENST00000383276:exon5:c.G1645A:p.G549S;	0.999994222381975	1.0
18	19147942	T	A	18	21567981	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon5:c.A1644T:p.P548P;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1644T:p.P548P;ENSG00000141446:ENST00000383276:exon5:c.A1644T:p.P548P;	0.999307862778943	0.994
18	19147942	T	C	18	21567981	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon5:c.A1644G:p.P548P;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1644G:p.P548P;ENSG00000141446:ENST00000383276:exon5:c.A1644G:p.P548P;	0.984305831781034	0.746
18	19147942	T	G	18	21567981	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon5:c.A1644C:p.P548P;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1644C:p.P548P;ENSG00000141446:ENST00000383276:exon5:c.A1644C:p.P548P;	0.982552596558199	0.79
18	19147943	G	A	18	21567982	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.C1643T:p.P548L;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.C1643T:p.P548L;ENSG00000141446:ENST00000383276:exon5:c.C1643T:p.P548L;	0.998982580877503	0.884
18	19147943	G	C	18	21567982	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.C1643G:p.P548R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.C1643G:p.P548R;ENSG00000141446:ENST00000383276:exon5:c.C1643G:p.P548R;	0.91591692977317	0.602
18	19147943	G	T	18	21567982	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.C1643A:p.P548Q;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.C1643A:p.P548Q;ENSG00000141446:ENST00000383276:exon5:c.C1643A:p.P548Q;	0.792759658561157	0.482
18	19148054	T	A	18	21568093	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.A1532T:p.N511I;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1532T:p.N511I;ENSG00000141446:ENST00000383276:exon5:c.A1532T:p.N511I;	0.871917916889161	0.708
18	19148054	T	C	18	21568093	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.A1532G:p.N511S;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1532G:p.N511S;ENSG00000141446:ENST00000383276:exon5:c.A1532G:p.N511S;	0.00902940514873168	0.04
18	19148054	T	G	18	21568093	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.A1532C:p.N511T;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1532C:p.N511T;ENSG00000141446:ENST00000383276:exon5:c.A1532C:p.N511T;	0.604601075715431	0.578
18	19148055	T	A	18	21568094	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.A1531T:p.N511Y;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1531T:p.N511Y;ENSG00000141446:ENST00000383276:exon5:c.A1531T:p.N511Y;	0.00458212971582831	0.236
18	19148055	T	C	18	21568094	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.A1531G:p.N511D;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1531G:p.N511D;ENSG00000141446:ENST00000383276:exon5:c.A1531G:p.N511D;	4.30121906430006E-4	0.15
18	19148055	T	G	18	21568094	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon5:c.A1531C:p.N511H;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon5:c.A1531C:p.N511H;ENSG00000141446:ENST00000383276:exon5:c.A1531C:p.N511H;	0.00308358130191869	0.174
18	19148056	C	A	18	21568095	y	y	splicing	ESCO1(NM_052911:exon6:c.1531-1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1531-1G>T;ENST00000383276:exon6:c.1531-1G>T)	.	.	0.999992451903337	0.906
18	19148056	C	G	18	21568095	y	y	splicing	ESCO1(NM_052911:exon6:c.1531-1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1531-1G>C;ENST00000383276:exon6:c.1531-1G>C)	.	.	0.999992451903337	0.906
18	19148056	C	T	18	21568095	y	y	splicing	ESCO1(NM_052911:exon6:c.1531-1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1531-1G>A;ENST00000383276:exon6:c.1531-1G>A)	.	.	0.999992451903337	0.906
18	19148057	T	A	18	21568096	y	y	splicing	ESCO1(NM_052911:exon6:c.1531-2A>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1531-2A>T;ENST00000383276:exon6:c.1531-2A>T)	.	.	0.999966568635832	0.912
18	19148057	T	C	18	21568096	y	y	splicing	ESCO1(NM_052911:exon6:c.1531-2A>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1531-2A>G;ENST00000383276:exon6:c.1531-2A>G)	.	.	0.999966568635832	0.912
18	19148057	T	G	18	21568096	y	y	splicing	ESCO1(NM_052911:exon6:c.1531-2A>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon6:c.1531-2A>C;ENST00000383276:exon6:c.1531-2A>C)	.	.	0.999966568635832	0.912
18	19148058	G	A	18	21568097	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.13584290447849E-4	0.046
18	19148058	G	C	18	21568097	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.995871323456722	0.66
18	19148058	G	T	18	21568097	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.962017032467893	0.768
18	19148059	A	C	18	21568098	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0103169204371451	0.06
18	19148059	A	G	18	21568098	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0121953629010836	0.122
18	19148059	A	T	18	21568098	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.044448162271642	0.152
18	19148060	A	C	18	21568099	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.982674028982383	0.716
18	19148060	A	G	18	21568099	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00735719189222633	0.118
18	19148060	A	T	18	21568099	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.895158605116058	0.69
18	19148061	C	A	18	21568100	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.1994589904632E-4	0.044
18	19148061	C	G	18	21568100	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.07254737240251E-4	0.038
18	19148061	C	T	18	21568100	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.62724901820636E-4	0.004
18	19148062	A	C	18	21568101	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.855444751538311	0.634
18	19148062	A	G	18	21568101	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0106140124422846	0.126
18	19148062	A	T	18	21568101	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999793715952614	0.964
18	19148063	C	A	18	21568102	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.71641570339139E-5	0.0
18	19148063	C	G	18	21568102	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.88606478618709E-5	0.0
18	19148063	C	T	18	21568102	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.70607210605791E-4	0.01
18	19148064	A	C	18	21568103	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999795047671715	0.956
18	19148064	A	G	18	21568103	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.56508141577042E-4	0.012
18	19148064	A	T	18	21568103	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999923065116136	0.96
18	19148065	T	A	18	21568104	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.43705307973538E-5	0.076
18	19148065	T	C	18	21568104	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.76459805923328E-5	0.152
18	19148065	T	G	18	21568104	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.41054475328881E-5	0.084
18	19148066	A	C	18	21568105	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999787589790002	0.87
18	19148066	A	G	18	21568105	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0221340502693223	0.306
18	19148066	A	T	18	21568105	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.776995103696632	0.6
18	19148067	T	A	18	21568106	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.89609184601572E-5	0.178
18	19148067	T	C	18	21568106	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.15005941121444E-5	0.044
18	19148067	T	G	18	21568106	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.08693885734068E-5	0.126
18	19153267	C	A	18	21573306	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.3649968147279E-5	0.002
18	19153267	C	G	18	21573306	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.3649968147279E-5	0.002
18	19153267	C	T	18	21573306	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.00584447653403E-5	0.002
18	19153268	A	C	18	21573307	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.6183603433844E-5	0.0
18	19153268	A	G	18	21573307	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.63972139651419E-5	0.0
18	19153268	A	T	18	21573307	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.69874741094134E-5	0.0
18	19153269	G	A	18	21573308	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.20995092675386E-4	0.006
18	19153269	G	C	18	21573308	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.93419534092297E-5	0.016
18	19153269	G	T	18	21573308	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.66698344729204E-5	0.006
18	19153270	A	C	18	21573309	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.68928664748058E-4	0.058
18	19153270	A	G	18	21573309	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.28552342350006E-5	0.002
18	19153270	A	T	18	21573309	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.57190669754276E-4	0.006
18	19153271	T	A	18	21573310	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.940891203603296	0.658
18	19153271	T	C	18	21573310	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.889421186636831	0.596
18	19153271	T	G	18	21573310	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.557527415628394	0.606
18	19153272	T	A	18	21573311	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999926593519269	0.96
18	19153272	T	C	18	21573311	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999567152749864	0.884
18	19153272	T	G	18	21573311	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999912420676754	0.948
18	19153273	A	C	18	21573312	y	y	splicing	ESCO1(NM_052911:exon5:c.1530+2T>G)	.	.	splicing	ENSG00000141446(ENST00000269214:exon5:c.1530+2T>G;ENST00000383276:exon5:c.1530+2T>G)	.	.	0.999988247793601	0.93
18	19153273	A	G	18	21573312	y	y	splicing	ESCO1(NM_052911:exon5:c.1530+2T>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon5:c.1530+2T>C;ENST00000383276:exon5:c.1530+2T>C)	.	.	0.98918007292081	0.672
18	19153273	A	T	18	21573312	y	y	splicing	ESCO1(NM_052911:exon5:c.1530+2T>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon5:c.1530+2T>A;ENST00000383276:exon5:c.1530+2T>A)	.	.	0.999988247793601	0.93
18	19153274	C	A	18	21573313	y	y	splicing	ESCO1(NM_052911:exon5:c.1530+1G>T)	.	.	splicing	ENSG00000141446(ENST00000269214:exon5:c.1530+1G>T;ENST00000383276:exon5:c.1530+1G>T)	.	.	0.999985049771335	0.934
18	19153274	C	G	18	21573313	y	y	splicing	ESCO1(NM_052911:exon5:c.1530+1G>C)	.	.	splicing	ENSG00000141446(ENST00000269214:exon5:c.1530+1G>C;ENST00000383276:exon5:c.1530+1G>C)	.	.	0.999987816357178	0.936
18	19153274	C	T	18	21573313	y	y	splicing	ESCO1(NM_052911:exon5:c.1530+1G>A)	.	.	splicing	ENSG00000141446(ENST00000269214:exon5:c.1530+1G>A;ENST00000383276:exon5:c.1530+1G>A)	.	.	0.999989263107695	0.936
18	19153275	C	A	18	21573314	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.G1530T:p.K510N;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon4:c.G1530T:p.K510N;ENSG00000141446:ENST00000383276:exon4:c.G1530T:p.K510N;	0.999982340422307	0.988
18	19153275	C	G	18	21573314	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.G1530C:p.K510N;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon4:c.G1530C:p.K510N;ENSG00000141446:ENST00000383276:exon4:c.G1530C:p.K510N;	0.999994040297648	0.998
18	19153275	C	T	18	21573314	y	y	exonic	ESCO1	synonymous SNV	ESCO1:NM_052911:exon4:c.G1530A:p.K510K;	exonic	ENSG00000141446	synonymous SNV	ENSG00000141446:ENST00000269214:exon4:c.G1530A:p.K510K;ENSG00000141446:ENST00000383276:exon4:c.G1530A:p.K510K;	0.99997314782437	0.998
18	19153276	T	A	18	21573315	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.A1529T:p.K510M;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon4:c.A1529T:p.K510M;ENSG00000141446:ENST00000383276:exon4:c.A1529T:p.K510M;	0.998549388587472	0.944
18	19153276	T	C	18	21573315	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.A1529G:p.K510R;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon4:c.A1529G:p.K510R;ENSG00000141446:ENST00000383276:exon4:c.A1529G:p.K510R;	0.995907936765149	0.93
18	19153276	T	G	18	21573315	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.A1529C:p.K510T;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon4:c.A1529C:p.K510T;ENSG00000141446:ENST00000383276:exon4:c.A1529C:p.K510T;	0.987857093731483	0.808
18	19153277	T	A	18	21573316	y	y	exonic	ESCO1	stopgain SNV	ESCO1:NM_052911:exon4:c.A1528T:p.K510X;	exonic	ENSG00000141446	stopgain SNV	ENSG00000141446:ENST00000269214:exon4:c.A1528T:p.K510X;ENSG00000141446:ENST00000383276:exon4:c.A1528T:p.K510X;	0.93406994235388	0.666
18	19153277	T	C	18	21573316	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.A1528G:p.K510E;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon4:c.A1528G:p.K510E;ENSG00000141446:ENST00000383276:exon4:c.A1528G:p.K510E;	1.34350486321861E-4	0.026
18	19153277	T	G	18	21573316	y	y	exonic	ESCO1	nonsynonymous SNV	ESCO1:NM_052911:exon4:c.A1528C:p.K510Q;	exonic	ENSG00000141446	nonsynonymous SNV	ENSG00000141446:ENST00000269214:exon4:c.A1528C:p.K510Q;ENSG00000141446:ENST00000383276:exon4:c.A1528C:p.K510Q;	6.89263837874035E-4	0.036
18	19155390	T	A	18	21575429	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	1.02065330976437E-4	0.006
18	19155390	T	C	18	21575429	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	3.17925542560217E-4	0.014
18	19155390	T	G	18	21575429	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	3.1975049963581E-4	0.018
18	19155391	T	A	18	21575430	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.0292885273108392	0.176
18	19155391	T	C	18	21575430	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.00221174402553873	0.016
18	19155391	T	G	18	21575430	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.0132097208294857	0.122
18	19155392	C	A	18	21575431	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99997703206973	0.934
18	19155392	C	G	18	21575431	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99997703206973	0.934
18	19155392	C	T	18	21575431	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99997703206973	0.932
18	19155393	T	A	18	21575432	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999988247793601	0.93
18	19155393	T	C	18	21575432	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999988247793601	0.93
18	19155393	T	G	18	21575432	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999988247793601	0.93
18	19155394	G	A	18	21575433	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.23232375323713	0.226
18	19155394	G	C	18	21575433	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999532302229809	0.922
18	19155394	G	T	18	21575433	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.974669827960655	0.636
18	19155395	A	C	18	21575434	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.83299155123245E-5	0.0
18	19155395	A	G	18	21575434	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.18039215510512E-5	0.004
18	19155395	A	T	18	21575434	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.37058261940923E-4	0.002
18	19155396	A	C	18	21575435	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.939643261193527	0.566
18	19155396	A	G	18	21575435	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0133868589348053	0.126
18	19155396	A	T	18	21575435	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.837242768589494	0.526
18	19155397	A	C	18	21575436	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.578622550806462	0.554
18	19155397	A	G	18	21575436	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.76283169298332E-4	0.004
18	19155397	A	T	18	21575436	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.647458736338641	0.554
18	19155398	A	C	18	21575437	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.124761395719233	0.31
18	19155398	A	G	18	21575437	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00106780393173409	0.03
18	19155398	A	T	18	21575437	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.146082712514238	0.346
18	19155399	A	C	18	21575438	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.998185847781741	0.99
18	19155399	A	G	18	21575438	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.22784014271092E-5	0.006
18	19155399	A	T	18	21575438	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.045162615999293	0.246
18	19155400	T	A	18	21575439	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.47664833389871E-5	0.002
18	19155400	T	C	18	21575439	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.97602528085488	0.966
18	19155400	T	G	18	21575439	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.10626334610893E-5	0.002
18	19155401	T	A	18	21575440	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.35815127254443E-4	0.004
18	19155401	T	C	18	21575440	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00185739312388989	0.002
18	19155401	T	G	18	21575440	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.12568305508948E-4	0.01
18	19155402	A	C	18	21575441	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.153502601500176	0.37
18	19155402	A	G	18	21575441	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00279592897555094	0.078
18	19155402	A	T	18	21575441	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.236380603873293	0.356
18	19155403	A	C	18	21575442	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.608870118320857	0.518
18	19155403	A	G	18	21575442	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00530136669064617	0.076
18	19155403	A	T	18	21575442	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.828552773958867	0.528
18	19155625	T	A	18	21575664	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.54944890467912E-6	0.0
18	19155625	T	C	18	21575664	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.04640167575542E-5	0.0
18	19155625	T	G	18	21575664	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.04640167575542E-5	0.0
18	19155626	T	A	18	21575665	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00387592891474632	0.028
18	19155626	T	C	18	21575665	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00293313030798652	0.024
18	19155626	T	G	18	21575665	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00293313030798652	0.028
18	19155627	A	C	18	21575666	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.942333964037693	0.726
18	19155627	A	G	18	21575666	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.915940182300175	0.748
18	19155627	A	T	18	21575666	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.963266064382673	0.6
18	19155628	C	A	18	21575667	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999990160128482	0.95
18	19155628	C	G	18	21575667	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999990043170081	0.946
18	19155628	C	T	18	21575667	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999976673146528	0.982
18	19155629	T	A	18	21575668	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.984240910210538	0.776
18	19155629	T	C	18	21575668	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.981267903745216	0.82
18	19155629	T	G	18	21575668	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.835184331989073	0.502
18	19155630	T	A	18	21575669	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999282773888199	0.892
18	19155630	T	C	18	21575669	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0295723187747926	0.27
18	19155630	T	G	18	21575669	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.999294809656981	0.91
18	19155631	A	C	18	21575670	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99994568797423	0.928
18	19155631	A	G	18	21575670	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.991823161717226	0.738
18	19155631	A	T	18	21575670	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999978952611685	0.926
18	19155632	C	A	18	21575671	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99995545544995	0.932
18	19155632	C	G	18	21575671	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99995545544995	0.934
18	19155632	C	T	18	21575671	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999982737877662	0.932
18	19155633	A	C	18	21575672	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	4.6540904062968E-4	0.07
18	19155633	A	G	18	21575672	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.0322220163371352	0.308
18	19155633	A	T	18	21575672	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.00541043425176352	0.03
18	19155634	G	A	18	21575673	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	2.52086494807826E-5	0.038
18	19155634	G	C	18	21575673	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	5.21427380056656E-5	0.028
18	19155634	G	T	18	21575673	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	1.15494311246443E-4	0.15
18	19155635	T	A	18	21575674	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.105570258381809	0.248
18	19155635	T	C	18	21575674	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.00504374264231299	0.092
18	19155635	T	G	18	21575674	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.00178828397600525	0.092
18	19155737	A	C	18	21575776	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.00701669642252198	0.104
18	19155737	A	G	18	21575776	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.0113977625366022	0.146
18	19155737	A	T	18	21575776	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.00891828997867305	0.136
18	19155738	C	A	18	21575777	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.904085715314506	0.58
18	19155738	C	G	18	21575777	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.735195173896363	0.54
18	19155738	C	T	18	21575777	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.294096513510358	0.532
18	19155739	C	A	18	21575778	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999985532734767	0.936
18	19155739	C	G	18	21575778	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999974090184857	0.936
18	19155739	C	T	18	21575778	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999985532734767	0.936
18	19155740	T	A	18	21575779	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999988247793601	0.926
18	19155740	T	C	18	21575779	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999978952611685	0.928
18	19155740	T	G	18	21575779	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999978952611685	0.928
18	19155741	G	A	18	21575780	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00250125508217461	0.08
18	19155741	G	C	18	21575780	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.997746984400275	0.81
18	19155741	G	T	18	21575780	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.228942978486621	0.436
18	19155742	A	C	18	21575781	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.48259372379116E-4	0.008
18	19155742	A	G	18	21575781	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.50875967476181E-4	0.004
18	19155742	A	T	18	21575781	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.42289386071002E-4	0.014
18	19155743	A	C	18	21575782	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.038532160940289	0.406
18	19155743	A	G	18	21575782	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.029659244004127	0.202
18	19155743	A	T	18	21575782	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.0356616688883057	0.386
18	19155744	A	C	18	21575783	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00496055064827724	0.11
18	19155744	A	G	18	21575783	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.50063387268175E-4	0.006
18	19155744	A	T	18	21575783	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00536669478249191	0.098
18	19155745	G	A	18	21575784	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.56704733211545E-5	0.0
18	19155745	G	C	18	21575784	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.8780977613724E-4	0.048
18	19155745	G	T	18	21575784	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.64560829593187E-4	0.066
18	19155746	A	C	18	21575785	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.07895808876259E-4	0.066
18	19155746	A	G	18	21575785	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.30081568572069E-5	0.022
18	19155746	A	T	18	21575785	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.66652447505128E-4	0.054
18	19155747	A	C	18	21575786	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.66217181695941E-4	0.1
18	19155747	A	G	18	21575786	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.93533034835496E-5	0.004
18	19155747	A	T	18	21575786	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.69744028457449E-4	0.116
18	19155748	A	C	18	21575787	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00316452816835718	0.224
18	19155748	A	G	18	21575787	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.17164828698387E-4	0.028
18	19155748	A	T	18	21575787	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00283333282222984	0.244
18	19155749	A	C	18	21575788	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.059296302154E-4	0.118
18	19155749	A	G	18	21575788	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.9131403785058E-5	0.042
18	19155749	A	T	18	21575788	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.51539282300011E-4	0.136
18	19155750	A	C	18	21575789	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.44326216566138E-4	0.07
18	19155750	A	G	18	21575789	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.93158988986018E-5	0.002
18	19155750	A	T	18	21575789	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.04291677211609E-4	0.076
18	19164263	C	A	18	21584302	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.48929332251792E-5	0.0
18	19164263	C	G	18	21584302	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.48929332251792E-5	0.0
18	19164263	C	T	18	21584302	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.74586225159984E-5	0.0
18	19164264	C	A	18	21584303	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.26675376020722E-6	0.004
18	19164264	C	G	18	21584303	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.26675376020722E-6	0.002
18	19164264	C	T	18	21584303	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.26675376020722E-6	0.016
18	19164265	A	C	18	21584304	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.05501436577005E-4	0.062
18	19164265	A	G	18	21584304	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00452051171017209	0.068
18	19164265	A	T	18	21584304	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.00167969131870451	0.104
18	19164266	C	A	18	21584305	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.685957520884872	0.528
18	19164266	C	G	18	21584305	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.475849156582965	0.472
18	19164266	C	T	18	21584305	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.535451129254027	0.554
18	19164267	T	A	18	21584306	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.613233541002948	0.414
18	19164267	T	C	18	21584306	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.610612834222121	0.462
18	19164267	T	G	18	21584306	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.31757496364033	0.41
18	19164268	T	A	18	21584307	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.14989729373491	0.51
18	19164268	T	C	18	21584307	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.2728562818791E-4	0.034
18	19164268	T	G	18	21584307	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.389150966299102	0.61
18	19164269	A	C	18	21584308	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999990611969007	0.898
18	19164269	A	G	18	21584308	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.982773547426783	0.544
18	19164269	A	T	18	21584308	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999988390207502	0.932
18	19164270	C	A	18	21584309	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999982151912279	0.89
18	19164270	C	G	18	21584309	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999982151912279	0.888
18	19164270	C	T	18	21584309	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999970104448312	0.892
18	19164271	C	A	18	21584310	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.734754539095574	0.606
18	19164271	C	G	18	21584310	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.460625044543511	0.506
18	19164271	C	T	18	21584310	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.324636838784382	0.456
18	19164272	T	A	18	21584311	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.115450429282876	0.388
18	19164272	T	C	18	21584311	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.194395910168831	0.26
18	19164272	T	G	18	21584311	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.105880983492872	0.394
18	19164273	T	A	18	21584312	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	4.66380828518449E-4	0.098
18	19164273	T	C	18	21584312	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	1.09947010525532E-4	0.002
18	19164273	T	G	18	21584312	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	1.38032765864115E-4	0.0
18	19164400	A	C	18	21584439	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	6.69889482703356E-5	0.0
18	19164400	A	G	18	21584439	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	3.64172844323102E-5	0.002
18	19164400	A	T	18	21584439	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	4.78483054080943E-5	0.0
18	19164401	T	A	18	21584440	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	2.86683465176856E-5	0.002
18	19164401	T	C	18	21584440	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	1.34284278289794E-5	0.0
18	19164401	T	G	18	21584440	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	2.86683465176856E-5	0.006
18	19164402	C	A	18	21584441	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999987958061382	0.76
18	19164402	C	G	18	21584441	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999987958061382	0.76
18	19164402	C	T	18	21584441	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999987958061382	0.76
18	19164403	T	A	18	21584442	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999940351765486	0.744
18	19164403	T	C	18	21584442	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999940351765486	0.728
18	19164403	T	G	18	21584442	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999940351765486	0.714
18	19164404	A	C	18	21584443	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.297354865788534	0.44
18	19164404	A	G	18	21584443	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.215815992048E-5	0.002
18	19164404	A	T	18	21584443	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.75104151687649E-4	0.066
18	19164405	T	A	18	21584444	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.68399658371379E-5	0.022
18	19164405	T	C	18	21584444	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.787435266720563	0.6
18	19164405	T	G	18	21584444	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.85902569658011E-5	0.014
18	19164406	T	A	18	21584445	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	9.93916360999009E-6	0.006
18	19164406	T	C	18	21584445	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.37948288644796E-5	0.01
18	19164406	T	G	18	21584445	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.47000708763736E-6	0.012
18	19164407	G	A	18	21584446	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.14080750039246E-5	0.05
18	19164407	G	C	18	21584446	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.18051741701596E-4	0.246
18	19164407	G	T	18	21584446	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.24741230484436E-4	0.066
18	19164408	A	C	18	21584447	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.09004134218422E-4	0.024
18	19164408	A	G	18	21584447	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.59770799490077E-5	0.018
18	19164408	A	T	18	21584447	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.18975512425651E-4	0.058
18	19164409	A	C	18	21584448	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.79825780446654E-5	0.036
18	19164409	A	G	18	21584448	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.05858636229247E-5	0.004
18	19164409	A	T	18	21584448	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.52280458882597E-5	0.022
18	19164410	A	C	18	21584449	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.27653889075147E-5	0.024
18	19164410	A	G	18	21584449	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.68338531197387E-5	0.0
18	19164410	A	T	18	21584449	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.51481286792511E-5	0.012
18	19164411	A	C	18	21584450	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.96767160682567E-4	0.12
18	19164411	A	G	18	21584450	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.44551075527813E-5	0.008
18	19164411	A	T	18	21584450	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.03790972700913E-4	0.082
18	19164412	A	C	18	21584451	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.61755685774975E-5	0.066
18	19164412	A	G	18	21584451	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.73721873873049E-5	0.01
18	19164412	A	T	18	21584451	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.49656871476911E-5	0.04
18	19164413	A	C	18	21584452	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.31190366066962E-5	0.052
18	19164413	A	G	18	21584452	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.25487779760161E-5	0.0
18	19164413	A	T	18	21584452	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.26949577830891E-5	0.026
18	19180576	T	A	18	21600615	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	1.25487712766919E-4	0.0
18	19180576	T	C	18	21600615	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.90441620685319E-5	0.004
18	19180576	T	G	18	21600615	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	4.30790773083982E-5	0.002
18	19180577	C	A	18	21600616	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	6.33141600191487E-5	0.0
18	19180577	C	G	18	21600616	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.49987850486752E-5	0.0
18	19180577	C	T	18	21600616	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	3.07256548728156E-5	0.0
18	19180578	G	A	18	21600617	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.04486303617848E-5	0.008
18	19180578	G	C	18	21600617	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	7.29244833908582E-5	0.012
18	19180578	G	T	18	21600617	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.77670194014636E-4	0.008
18	19180579	C	A	18	21600618	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.997928992098691	0.744
18	19180579	C	G	18	21600618	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.991145110665853	0.654
18	19180579	C	T	18	21600618	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.987302370048231	0.662
18	19180580	G	A	18	21600619	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	5.57467108192196E-5	0.026
18	19180580	G	C	18	21600619	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	8.88541105920848E-5	0.01
18	19180580	G	T	18	21600619	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	2.44610100643067E-4	0.06
18	19180581	T	A	18	21600620	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.992012245205431	0.784
18	19180581	T	C	18	21600620	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.192731072659714	0.318
18	19180581	T	G	18	21600620	y	y	intronic	ESCO1	.	.	intronic	ENSG00000141446	.	.	0.993471900984571	0.774
18	19180582	A	C	18	21600621	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999978791067592	0.93
18	19180582	A	G	18	21600621	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.98317218275015	0.616
18	19180582	A	T	18	21600621	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.999978791067592	0.928
18	19180583	C	A	18	21600622	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99994568797423	0.942
18	19180583	C	G	18	21600622	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99994568797423	0.942
18	19180583	C	T	18	21600622	y	y	splicing	ESCO1	.	.	splicing	ENSG00000141446	.	.	0.99994568797423	0.932
18	19180584	C	A	18	21600623	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.974778059669597	0.928
18	19180584	C	G	18	21600623	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.997295333304555	0.842
18	19180584	C	T	18	21600623	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.998176026059653	0.964
18	19180585	T	A	18	21600624	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.99823922240335	0.896
18	19180585	T	C	18	21600624	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.987709271055578	0.876
18	19180585	T	G	18	21600624	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.95671582053952	0.844
18	19180586	T	A	18	21600625	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.0666248831439794	0.408
18	19180586	T	C	18	21600625	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	0.00120539163702913	0.018
18	19180586	T	G	18	21600625	y	y	UTR5	ESCO1	.	.	UTR5	ENSG00000141446	.	.	3.23112363588769E-4	0.0
18	19192402	G	A	18	21612441	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon1:c.G12A:p.V4V;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000579618:exon1:c.G12A:p.V4V;ENSG00000167088:ENST00000300413:exon1:c.G12A:p.V4V;	2.13553278168298E-4	0.074
18	19192402	G	C	18	21612441	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon1:c.G12C:p.V4V;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000579618:exon1:c.G12C:p.V4V;ENSG00000167088:ENST00000300413:exon1:c.G12C:p.V4V;	1.58648765165367E-4	0.004
18	19192402	G	T	18	21612441	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon1:c.G12T:p.V4V;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000579618:exon1:c.G12T:p.V4V;ENSG00000167088:ENST00000300413:exon1:c.G12T:p.V4V;	3.59858649369559E-4	0.016
18	19192403	A	C	18	21612442	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon1:c.A13C:p.R5R;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000579618:exon1:c.A13C:p.R5R;ENSG00000167088:ENST00000300413:exon1:c.A13C:p.R5R;	0.974120013425368	0.876
18	19192403	A	G	18	21612442	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon1:c.A13G:p.R5G;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon1:c.A13G:p.R5G;ENSG00000167088:ENST00000300413:exon1:c.A13G:p.R5G;	0.988141264476668	0.782
18	19192403	A	T	18	21612442	y	y	exonic	SNRPD1	stopgain SNV	SNRPD1:NM_006938:exon1:c.A13T:p.R5X;	exonic	ENSG00000167088	stopgain SNV	ENSG00000167088:ENST00000579618:exon1:c.A13T:p.R5X;ENSG00000167088:ENST00000300413:exon1:c.A13T:p.R5X;	0.999829308902164	0.994
18	19192404	G	A	18	21612443	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon1:c.G14A:p.R5K;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon1:c.G14A:p.R5K;ENSG00000167088:ENST00000300413:exon1:c.G14A:p.R5K;	0.998821495694011	0.986
18	19192404	G	C	18	21612443	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon1:c.G14C:p.R5T;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon1:c.G14C:p.R5T;ENSG00000167088:ENST00000300413:exon1:c.G14C:p.R5T;	0.999975707492719	0.94
18	19192404	G	T	18	21612443	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon1:c.G14T:p.R5I;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon1:c.G14T:p.R5I;ENSG00000167088:ENST00000300413:exon1:c.G14T:p.R5I;	0.990882909917551	0.932
18	19192405	G	A	18	21612444	y	y	splicing	SNRPD1(NM_006938:exon1:c.14+1G>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon1:c.14+1G>A;ENST00000579618:exon1:c.14+1G>A)	.	.	0.999938221968836	0.896
18	19192405	G	C	18	21612444	y	y	splicing	SNRPD1(NM_006938:exon1:c.14+1G>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon1:c.14+1G>C;ENST00000579618:exon1:c.14+1G>C)	.	.	0.999938221968836	0.892
18	19192405	G	T	18	21612444	y	y	splicing	SNRPD1(NM_006938:exon1:c.14+1G>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon1:c.14+1G>T;ENST00000579618:exon1:c.14+1G>T)	.	.	0.999938221968836	0.894
18	19192406	T	A	18	21612445	y	y	splicing	SNRPD1(NM_006938:exon1:c.14+2T>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon1:c.14+2T>A;ENST00000579618:exon1:c.14+2T>A)	.	.	0.999978986619032	0.916
18	19192406	T	C	18	21612445	y	y	splicing	SNRPD1(NM_006938:exon1:c.14+2T>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon1:c.14+2T>C;ENST00000579618:exon1:c.14+2T>C)	.	.	0.999948443942025	0.896
18	19192406	T	G	18	21612445	y	y	splicing	SNRPD1(NM_006938:exon1:c.14+2T>G)	.	.	splicing	ENSG00000167088(ENST00000300413:exon1:c.14+2T>G;ENST00000579618:exon1:c.14+2T>G)	.	.	0.999988781533968	0.936
18	19192407	G	A	18	21612446	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.64371681277112E-5	0.002
18	19192407	G	C	18	21612446	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.566508122284731	0.466
18	19192407	G	T	18	21612446	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.468772534351946	0.392
18	19192408	A	C	18	21612447	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.327577208086506	0.402
18	19192408	A	G	18	21612447	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.980016693001112	0.64
18	19192408	A	T	18	21612447	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.96974515020972	0.612
18	19192409	G	A	18	21612448	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.998905345832133	0.83
18	19192409	G	C	18	21612448	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.989566384013231	0.714
18	19192409	G	T	18	21612448	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.99953796029387	0.834
18	19192410	G	A	18	21612449	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	7.31142100913068E-5	0.002
18	19192410	G	C	18	21612449	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.7269580921136E-5	0.012
18	19192410	G	T	18	21612449	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.9001135331333E-5	0.0
18	19192411	G	A	18	21612450	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.89270719179685E-5	0.006
18	19192411	G	C	18	21612450	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.61053696239434E-5	0.0
18	19192411	G	T	18	21612450	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	4.08497889105118E-4	0.008
18	19192412	A	C	18	21612451	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	7.65126790925538E-5	0.004
18	19192412	A	G	18	21612451	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.22522237557369E-5	0.0
18	19192412	A	T	18	21612451	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.46335982380175E-4	0.0
18	19202674	T	A	18	21622713	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.158851076016481	0.39
18	19202674	T	C	18	21622713	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00252712107434887	0.066
18	19202674	T	G	18	21622713	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0530268054672595	0.348
18	19202675	C	A	18	21622714	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00536770691370451	0.176
18	19202675	C	G	18	21622714	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.82770899901503E-4	0.148
18	19202675	C	T	18	21622714	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.5733117393385E-5	0.002
18	19202676	C	A	18	21622715	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	4.69737096911497E-4	0.056
18	19202676	C	G	18	21622715	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.27634365198412E-4	0.078
18	19202676	C	T	18	21622715	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.71478944592449E-5	0.01
18	19202677	T	A	18	21622716	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.991440193318043	0.75
18	19202677	T	C	18	21622716	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0488072721728866	0.334
18	19202677	T	G	18	21622716	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.992892254386353	0.77
18	19202678	A	C	18	21622717	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.39508879481172E-5	0.0
18	19202678	A	G	18	21622717	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	3.47298668183006E-5	0.002
18	19202678	A	T	18	21622717	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.40138733193134E-5	0.0
18	19202679	T	A	18	21622718	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0892537962680626	0.166
18	19202679	T	C	18	21622718	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.25154178598451E-4	0.018
18	19202679	T	G	18	21622718	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.999542136520557	0.978
18	19202680	T	A	18	21622719	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0355399173959228	0.242
18	19202680	T	C	18	21622719	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.23309709961156E-5	0.012
18	19202680	T	G	18	21622719	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0745131228367416	0.3
18	19202681	T	A	18	21622720	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.477239156665314	0.552
18	19202681	T	C	18	21622720	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	3.25258848036655E-4	0.014
18	19202681	T	G	18	21622720	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.515460170583482	0.626
18	19202682	A	C	18	21622721	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.16516150603388E-5	0.0
18	19202682	A	G	18	21622721	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.31951602955176E-5	0.0
18	19202682	A	T	18	21622721	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.77798500941735E-5	0.0
18	19202683	T	A	18	21622722	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00645265581514388	0.172
18	19202683	T	C	18	21622722	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	4.34436586702811E-4	0.04
18	19202683	T	G	18	21622722	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.997978444118028	0.722
18	19202684	A	C	18	21622723	y	y	splicing	SNRPD1(NM_006938:exon2:c.15-2A>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.15-2A>C;ENST00000579618:exon2:c.15-2A>C)	.	.	0.999993519952936	0.928
18	19202684	A	G	18	21622723	y	y	splicing	SNRPD1(NM_006938:exon2:c.15-2A>G)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.15-2A>G;ENST00000579618:exon2:c.15-2A>G)	.	.	0.999993519952936	0.928
18	19202684	A	T	18	21622723	y	y	splicing	SNRPD1(NM_006938:exon2:c.15-2A>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.15-2A>T;ENST00000579618:exon2:c.15-2A>T)	.	.	0.999993519952936	0.928
18	19202685	G	A	18	21622724	y	y	splicing	SNRPD1(NM_006938:exon2:c.15-1G>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.15-1G>A;ENST00000579618:exon2:c.15-1G>A)	.	.	0.999986675681007	0.936
18	19202685	G	C	18	21622724	y	y	splicing	SNRPD1(NM_006938:exon2:c.15-1G>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.15-1G>C;ENST00000579618:exon2:c.15-1G>C)	.	.	0.999986675681007	0.936
18	19202685	G	T	18	21622724	y	y	splicing	SNRPD1(NM_006938:exon2:c.15-1G>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.15-1G>T;ENST00000579618:exon2:c.15-1G>T)	.	.	0.999986675681007	0.936
18	19202686	A	C	18	21622725	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.A15C:p.R5S;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.A15C:p.R5S;ENSG00000167088:ENST00000300413:exon2:c.A15C:p.R5S;	7.70574370071262E-4	0.046
18	19202686	A	G	18	21622725	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon2:c.A15G:p.R5R;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.A15G:p.R5R;ENSG00000167088:ENST00000300413:exon2:c.A15G:p.R5R;	1.9923199007106E-4	0.0
18	19202686	A	T	18	21622725	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.A15T:p.R5S;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.A15T:p.R5S;ENSG00000167088:ENST00000300413:exon2:c.A15T:p.R5S;	0.00244678760745282	0.094
18	19202687	T	A	18	21622726	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.T16A:p.F6I;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.T16A:p.F6I;ENSG00000167088:ENST00000300413:exon2:c.T16A:p.F6I;	2.74406141753833E-4	0.032
18	19202687	T	C	18	21622726	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.T16C:p.F6L;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.T16C:p.F6L;ENSG00000167088:ENST00000300413:exon2:c.T16C:p.F6L;	2.05803891896707E-4	0.032
18	19202687	T	G	18	21622726	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.T16G:p.F6V;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.T16G:p.F6V;ENSG00000167088:ENST00000300413:exon2:c.T16G:p.F6V;	3.64904763068411E-4	0.038
18	19202760	C	A	18	21622799	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.C89A:p.T30K;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.C89A:p.T30K;ENSG00000167088:ENST00000300413:exon2:c.C89A:p.T30K;	0.0764990269584765	0.24
18	19202760	C	G	18	21622799	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.C89G:p.T30R;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.C89G:p.T30R;ENSG00000167088:ENST00000300413:exon2:c.C89G:p.T30R;	0.0341355757224151	0.192
18	19202760	C	T	18	21622799	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.C89T:p.T30I;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.C89T:p.T30I;ENSG00000167088:ENST00000300413:exon2:c.C89T:p.T30I;	0.911222713821927	0.688
18	19202761	A	C	18	21622800	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon2:c.A90C:p.T30T;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.A90C:p.T30T;ENSG00000167088:ENST00000300413:exon2:c.A90C:p.T30T;	0.850925129815897	0.612
18	19202761	A	G	18	21622800	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon2:c.A90G:p.T30T;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.A90G:p.T30T;ENSG00000167088:ENST00000300413:exon2:c.A90G:p.T30T;	0.880847596426429	0.56
18	19202761	A	T	18	21622800	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon2:c.A90T:p.T30T;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.A90T:p.T30T;ENSG00000167088:ENST00000300413:exon2:c.A90T:p.T30T;	0.936920656786598	0.714
18	19202762	G	A	18	21622801	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.G91A:p.G31S;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.G91A:p.V31I;ENSG00000167088:ENST00000300413:exon2:c.G91A:p.G31S;	0.999857214365644	0.968
18	19202762	G	C	18	21622801	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.G91C:p.G31R;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.G91C:p.V31L;ENSG00000167088:ENST00000300413:exon2:c.G91C:p.G31R;	0.999942562750393	0.968
18	19202762	G	T	18	21622801	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon2:c.G91T:p.G31C;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000579618:exon2:c.G91T:p.V31F;ENSG00000167088:ENST00000300413:exon2:c.G91T:p.G31C;	0.99935972879464	0.966
18	19202763	G	A	18	21622802	y	y	splicing	SNRPD1(NM_006938:exon2:c.91+1G>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.91+1G>A;ENST00000579618:exon2:c.91+1G>A)	.	.	0.999988247793601	0.93
18	19202763	G	C	18	21622802	y	y	splicing	SNRPD1(NM_006938:exon2:c.91+1G>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.91+1G>C;ENST00000579618:exon2:c.91+1G>C)	.	.	0.999988247793601	0.93
18	19202763	G	T	18	21622802	y	y	splicing	SNRPD1(NM_006938:exon2:c.91+1G>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.91+1G>T;ENST00000579618:exon2:c.91+1G>T)	.	.	0.999988247793601	0.93
18	19202764	T	A	18	21622803	y	y	splicing	SNRPD1(NM_006938:exon2:c.91+2T>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.91+2T>A;ENST00000579618:exon2:c.91+2T>A)	.	.	0.999993672935256	0.926
18	19202764	T	C	18	21622803	y	y	splicing	SNRPD1(NM_006938:exon2:c.91+2T>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.91+2T>C;ENST00000579618:exon2:c.91+2T>C)	.	.	0.985578953178546	0.592
18	19202764	T	G	18	21622803	y	y	splicing	SNRPD1(NM_006938:exon2:c.91+2T>G)	.	.	splicing	ENSG00000167088(ENST00000300413:exon2:c.91+2T>G;ENST00000579618:exon2:c.91+2T>G)	.	.	0.999991781128047	0.928
18	19202765	A	C	18	21622804	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.994471135807734	0.722
18	19202765	A	G	18	21622804	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0184816059642971	0.172
18	19202765	A	T	18	21622804	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.985739904709964	0.664
18	19202766	C	A	18	21622805	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.53277712300167E-5	0.006
18	19202766	C	G	18	21622805	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	4.85295412510289E-5	0.0
18	19202766	C	T	18	21622805	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.89940430032485E-5	0.0
18	19202767	G	A	18	21622806	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.970264777363225	0.556
18	19202767	G	C	18	21622806	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.961051414187771	0.626
18	19202767	G	T	18	21622806	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.985215180747212	0.556
18	19202768	G	A	18	21622807	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.26179173588521E-4	0.002
18	19202768	G	C	18	21622807	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	7.27198136500648E-4	0.056
18	19202768	G	T	18	21622807	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	4.06855595772394E-5	0.004
18	19202769	A	C	18	21622808	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.010034031374501	0.07
18	19202769	A	G	18	21622808	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.010034031374501	0.062
18	19202769	A	T	18	21622808	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0089655937021006	0.096
18	19202770	G	A	18	21622809	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.77453025508546E-4	0.002
18	19202770	G	C	18	21622809	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	4.79301230713946E-4	0.0
18	19202770	G	T	18	21622809	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.77453025508546E-4	0.058
18	19203697	T	A	18	21623736	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00673957183730231	0.282
18	19203697	T	C	18	21623736	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00143254770905329	0.04
18	19203697	T	G	18	21623736	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0042272578064998	0.262
18	19203698	T	A	18	21623737	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	9.13172126080767E-4	0.156
18	19203698	T	C	18	21623737	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	9.43866694181453E-5	0.028
18	19203698	T	G	18	21623737	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.45635538058142E-4	0.11
18	19203699	T	A	18	21623738	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00159931999686205	0.12
18	19203699	T	C	18	21623738	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.99895498978573E-4	0.002
18	19203699	T	G	18	21623738	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00139383279977234	0.084
18	19203700	C	A	18	21623739	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.61321659108725E-4	0.066
18	19203700	C	G	18	21623739	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	7.22063419197315E-5	0.006
18	19203700	C	T	18	21623739	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.80248286061925E-5	0.002
18	19203701	C	A	18	21623740	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	9.93120037121392E-5	0.07
18	19203701	C	G	18	21623740	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.90393366645351E-5	0.064
18	19203701	C	T	18	21623740	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.23211373027268E-5	0.012
18	19203702	T	A	18	21623741	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.21360056936118E-4	0.002
18	19203702	T	C	18	21623741	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.59547380942185E-5	0.0
18	19203702	T	G	18	21623741	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.62280926598758E-4	0.0
18	19203703	C	A	18	21623742	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.43383432403714E-4	0.022
18	19203703	C	G	18	21623742	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.01797277518822E-4	0.026
18	19203703	C	T	18	21623742	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.60966222503036E-5	0.0
18	19203704	T	A	18	21623743	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0154730474955591	0.378
18	19203704	T	C	18	21623743	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00290771277021133	0.084
18	19203704	T	G	18	21623743	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0222231828862663	0.372
18	19203705	T	A	18	21623744	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.38218508658369E-5	0.0
18	19203705	T	C	18	21623744	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	7.49155203669955E-5	0.0
18	19203705	T	G	18	21623744	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.67378645857529E-4	0.0
18	19203706	T	A	18	21623745	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00115629988434383	0.064
18	19203706	T	C	18	21623745	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.09507148558442E-4	0.006
18	19203706	T	G	18	21623745	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.666572682498616	0.544
18	19203707	A	C	18	21623746	y	y	splicing	SNRPD1(NM_006938:exon3:c.92-2A>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.92-2A>C)	.	.	0.999939020951004	0.934
18	19203707	A	G	18	21623746	y	y	splicing	SNRPD1(NM_006938:exon3:c.92-2A>G)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.92-2A>G)	.	.	0.999939020951004	0.934
18	19203707	A	T	18	21623746	y	y	splicing	SNRPD1(NM_006938:exon3:c.92-2A>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.92-2A>T)	.	.	0.999939020951004	0.918
18	19203708	G	A	18	21623747	y	y	splicing	SNRPD1(NM_006938:exon3:c.92-1G>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.92-1G>A)	.	.	0.999986675681007	0.932
18	19203708	G	C	18	21623747	y	y	splicing	SNRPD1(NM_006938:exon3:c.92-1G>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.92-1G>C)	.	.	0.999986675681007	0.932
18	19203708	G	T	18	21623747	y	y	splicing	SNRPD1(NM_006938:exon3:c.92-1G>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.92-1G>T)	.	.	0.999986675681007	0.932
18	19203709	G	A	18	21623748	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.G92A:p.G31D;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000300413:exon3:c.G92A:p.G31D;	0.998606272889371	0.934
18	19203709	G	C	18	21623748	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.G92C:p.G31A;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000300413:exon3:c.G92C:p.G31A;	0.999674005465842	0.906
18	19203709	G	T	18	21623748	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.G92T:p.G31V;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000300413:exon3:c.G92T:p.G31V;	0.999866076986125	0.948
18	19203710	T	A	18	21623749	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon3:c.T93A:p.G31G;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000300413:exon3:c.T93A:p.G31G;	0.00248376747331068	0.046
18	19203710	T	C	18	21623749	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon3:c.T93C:p.G31G;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000300413:exon3:c.T93C:p.G31G;	0.00217686314375051	0.036
18	19203710	T	G	18	21623749	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon3:c.T93G:p.G31G;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000300413:exon3:c.T93G:p.G31G;	0.00215501698029147	0.03
18	19203898	C	A	18	21623937	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.C281A:p.A94D;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.C149A:p.A50D;ENSG00000167088:ENST00000300413:exon3:c.C281A:p.A94D;	0.941487088294884	0.734
18	19203898	C	G	18	21623937	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.C281G:p.A94G;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.C149G:p.A50G;ENSG00000167088:ENST00000300413:exon3:c.C281G:p.A94G;	0.0151693693510442	0.082
18	19203898	C	T	18	21623937	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.C281T:p.A94V;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.C149T:p.A50V;ENSG00000167088:ENST00000300413:exon3:c.C281T:p.A94V;	0.994286532074838	0.554
18	19203899	T	A	18	21623938	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon3:c.T282A:p.A94A;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.T150A:p.A50A;ENSG00000167088:ENST00000300413:exon3:c.T282A:p.A94A;	2.45856331784151E-5	0.08
18	19203899	T	C	18	21623938	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon3:c.T282C:p.A94A;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.T150C:p.A50A;ENSG00000167088:ENST00000300413:exon3:c.T282C:p.A94A;	4.97907474622932E-5	0.0
18	19203899	T	G	18	21623938	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon3:c.T282G:p.A94A;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.T150G:p.A50A;ENSG00000167088:ENST00000300413:exon3:c.T282G:p.A94A;	8.14147074800578E-5	0.0
18	19203900	G	A	18	21623939	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.G283A:p.V95I;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.G151A:p.V51I;ENSG00000167088:ENST00000300413:exon3:c.G283A:p.V95I;	0.99935681188653	0.938
18	19203900	G	C	18	21623939	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.G283C:p.V95L;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.G151C:p.V51L;ENSG00000167088:ENST00000300413:exon3:c.G283C:p.V95L;	0.985991449736887	0.796
18	19203900	G	T	18	21623939	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon3:c.G283T:p.V95F;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon2:c.G151T:p.V51F;ENSG00000167088:ENST00000300413:exon3:c.G283T:p.V95F;	0.990797441647803	0.896
18	19203901	G	A	18	21623940	y	y	splicing	SNRPD1(NM_006938:exon3:c.283+1G>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.283+1G>A;ENST00000579618:exon3:c.156+1G>A;ENST00000582475:exon2:c.151+1G>A)	.	.	0.999986675681007	0.936
18	19203901	G	C	18	21623940	y	y	splicing	SNRPD1(NM_006938:exon3:c.283+1G>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.283+1G>C;ENST00000579618:exon3:c.156+1G>C;ENST00000582475:exon2:c.151+1G>C)	.	.	0.999986675681007	0.936
18	19203901	G	T	18	21623940	y	y	splicing	SNRPD1(NM_006938:exon3:c.283+1G>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.283+1G>T;ENST00000579618:exon3:c.156+1G>T;ENST00000582475:exon2:c.151+1G>T)	.	.	0.999986675681007	0.936
18	19203902	T	A	18	21623941	y	y	splicing	SNRPD1(NM_006938:exon3:c.283+2T>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.283+2T>A;ENST00000579618:exon3:c.156+2T>A;ENST00000582475:exon2:c.151+2T>A)	.	.	0.999989917668626	0.928
18	19203902	T	C	18	21623941	y	y	splicing	SNRPD1(NM_006938:exon3:c.283+2T>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.283+2T>C;ENST00000579618:exon3:c.156+2T>C;ENST00000582475:exon2:c.151+2T>C)	.	.	0.994485838132979	0.626
18	19203902	T	G	18	21623941	y	y	splicing	SNRPD1(NM_006938:exon3:c.283+2T>G)	.	.	splicing	ENSG00000167088(ENST00000300413:exon3:c.283+2T>G;ENST00000579618:exon3:c.156+2T>G;ENST00000582475:exon2:c.151+2T>G)	.	.	0.999989917668626	0.928
18	19203903	A	C	18	21623942	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.96281329940775	0.724
18	19203903	A	G	18	21623942	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.0024973518751268	0.062
18	19203903	A	T	18	21623942	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.991163754947229	0.726
18	19203904	A	C	18	21623943	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.266012147128691	0.364
18	19203904	A	G	18	21623943	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.352961061797069	0.398
18	19203904	A	T	18	21623943	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.332487142624867	0.426
18	19203905	G	A	18	21623944	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.999606575329099	0.886
18	19203905	G	C	18	21623944	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.994296917546565	0.884
18	19203905	G	T	18	21623944	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.99705142892511	0.928
18	19203906	T	A	18	21623945	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.796731100029603	0.462
18	19203906	T	C	18	21623945	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.704839718658345	0.36
18	19203906	T	G	18	21623945	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.23704080194505	0.304
18	19203907	T	A	18	21623946	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.84639683294684E-4	0.02
18	19203907	T	C	18	21623946	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.84639683294684E-4	0.004
18	19203907	T	G	18	21623946	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.98371232975116E-4	0.006
18	19203908	T	A	18	21623947	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.66777610808291E-4	0.0
18	19203908	T	C	18	21623947	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.95182264785694E-4	0.002
18	19203908	T	G	18	21623947	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.43165207983103E-4	0.002
18	19209011	C	A	18	21629050	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.66759270341629E-4	0.154
18	19209011	C	G	18	21629050	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.31646924621119E-4	0.16
18	19209011	C	T	18	21629050	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	7.9749593310616E-4	0.286
18	19209012	T	A	18	21629051	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	4.86628417240556E-4	0.218
18	19209012	T	C	18	21629051	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	8.93992479393894E-5	0.086
18	19209012	T	G	18	21629051	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	3.01611098194662E-4	0.148
18	19209013	T	A	18	21629052	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	4.72630753504748E-5	0.114
18	19209013	T	C	18	21629052	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.9196974398162E-5	0.054
18	19209013	T	G	18	21629052	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.72094443931404E-5	0.09
18	19209014	T	A	18	21629053	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.422562741740036	0.656
18	19209014	T	C	18	21629053	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.3079232347038	0.652
18	19209014	T	G	18	21629053	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.422562741740036	0.692
18	19209015	T	A	18	21629054	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	3.88748824325722E-4	0.052
18	19209015	T	C	18	21629054	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	6.09814343542689E-5	0.01
18	19209015	T	G	18	21629054	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	2.35008753980646E-4	0.036
18	19209016	C	A	18	21629055	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00123751724337123	0.162
18	19209016	C	G	18	21629055	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	3.33311965440765E-4	0.08
18	19209016	C	T	18	21629055	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.57730625981156E-4	0.008
18	19209017	C	A	18	21629056	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.28138612276673E-4	0.072
18	19209017	C	G	18	21629056	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	3.0976223962974E-4	0.094
18	19209017	C	T	18	21629056	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.74793285948941E-5	0.006
18	19209018	T	A	18	21629057	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	5.2312385163306E-4	0.122
18	19209018	T	C	18	21629057	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	1.13814898373737E-4	0.008
18	19209018	T	G	18	21629057	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	9.23271650569696E-4	0.112
18	19209019	T	A	18	21629058	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00826038968311529	0.052
18	19209019	T	C	18	21629058	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00204173902211079	0.036
18	19209019	T	G	18	21629058	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00330803595739434	0.04
18	19209020	C	A	18	21629059	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.259460288238544	0.402
18	19209020	C	G	18	21629059	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.998684663014492	0.778
18	19209020	C	T	18	21629059	y	y	intronic	SNRPD1	.	.	intronic	ENSG00000167088	.	.	0.00298937312337392	0.14
18	19209021	A	C	18	21629060	y	y	splicing	SNRPD1(NM_006938:exon4:c.284-2A>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon4:c.284-2A>C;ENST00000579618:exon4:c.157-2A>C;ENST00000582475:exon3:c.152-2A>C)	.	.	0.999988247793601	0.928
18	19209021	A	G	18	21629060	y	y	splicing	SNRPD1(NM_006938:exon4:c.284-2A>G)	.	.	splicing	ENSG00000167088(ENST00000300413:exon4:c.284-2A>G;ENST00000579618:exon4:c.157-2A>G;ENST00000582475:exon3:c.152-2A>G)	.	.	0.999988247793601	0.928
18	19209021	A	T	18	21629060	y	y	splicing	SNRPD1(NM_006938:exon4:c.284-2A>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon4:c.284-2A>T;ENST00000579618:exon4:c.157-2A>T;ENST00000582475:exon3:c.152-2A>T)	.	.	0.999988247793601	0.928
18	19209022	G	A	18	21629061	y	y	splicing	SNRPD1(NM_006938:exon4:c.284-1G>A)	.	.	splicing	ENSG00000167088(ENST00000300413:exon4:c.284-1G>A;ENST00000579618:exon4:c.157-1G>A;ENST00000582475:exon3:c.152-1G>A)	.	.	0.999985532734767	0.936
18	19209022	G	C	18	21629061	y	y	splicing	SNRPD1(NM_006938:exon4:c.284-1G>C)	.	.	splicing	ENSG00000167088(ENST00000300413:exon4:c.284-1G>C;ENST00000579618:exon4:c.157-1G>C;ENST00000582475:exon3:c.152-1G>C)	.	.	0.999985532734767	0.936
18	19209022	G	T	18	21629061	y	y	splicing	SNRPD1(NM_006938:exon4:c.284-1G>T)	.	.	splicing	ENSG00000167088(ENST00000300413:exon4:c.284-1G>T;ENST00000579618:exon4:c.157-1G>T;ENST00000582475:exon3:c.152-1G>T)	.	.	0.999985532734767	0.936
18	19209023	T	A	18	21629062	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon4:c.T284A:p.V95D;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon3:c.T152A:p.V51D;ENSG00000167088:ENST00000300413:exon4:c.T284A:p.V95D;	0.00115261800509115	0.012
18	19209023	T	C	18	21629062	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon4:c.T284C:p.V95A;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon3:c.T152C:p.V51A;ENSG00000167088:ENST00000300413:exon4:c.T284C:p.V95A;	9.67304199822893E-4	0.018
18	19209023	T	G	18	21629062	y	y	exonic	SNRPD1	nonsynonymous SNV	SNRPD1:NM_006938:exon4:c.T284G:p.V95G;	exonic	ENSG00000167088	nonsynonymous SNV	ENSG00000167088:ENST00000582475:exon3:c.T152G:p.V51G;ENSG00000167088:ENST00000300413:exon4:c.T284G:p.V95G;	0.00134425698538937	0.05
18	19209024	T	A	18	21629063	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon4:c.T285A:p.V95V;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000582475:exon3:c.T153A:p.V51V;ENSG00000167088:ENST00000300413:exon4:c.T285A:p.V95V;	0.00624393785532208	0.116
18	19209024	T	C	18	21629063	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon4:c.T285C:p.V95V;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000582475:exon3:c.T153C:p.V51V;ENSG00000167088:ENST00000300413:exon4:c.T285C:p.V95V;	0.00380295814215579	0.042
18	19209024	T	G	18	21629063	y	y	exonic	SNRPD1	synonymous SNV	SNRPD1:NM_006938:exon4:c.T285G:p.V95V;	exonic	ENSG00000167088	synonymous SNV	ENSG00000167088:ENST00000582475:exon3:c.T153G:p.V51V;ENSG00000167088:ENST00000300413:exon4:c.T285G:p.V95V;	0.00229064782210437	0.032
18	19231723	A	C	18	21651762	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon9:c.T1059G:p.A353A;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon9:c.T1059G:p.A353A;ENSG00000158201:ENST00000578270:exon8:c.T474G:p.A158A;ENSG00000158201:ENST00000580981:exon7:c.T900G:p.A300A;	0.0100652284308276	0.218
18	19231723	A	G	18	21651762	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon9:c.T1059C:p.A353A;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon9:c.T1059C:p.A353A;ENSG00000158201:ENST00000578270:exon8:c.T474C:p.A158A;ENSG00000158201:ENST00000580981:exon7:c.T900C:p.A300A;	0.00361482489013341	0.242
18	19231723	A	T	18	21651762	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon9:c.T1059A:p.A353A;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon9:c.T1059A:p.A353A;ENSG00000158201:ENST00000578270:exon8:c.T474A:p.A158A;ENSG00000158201:ENST00000580981:exon7:c.T900A:p.A300A;	0.00341981442005301	0.234
18	19231724	G	A	18	21651763	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon9:c.C1058T:p.A353V;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon9:c.C1058T:p.A353V;ENSG00000158201:ENST00000578270:exon8:c.C473T:p.A158V;ENSG00000158201:ENST00000580981:exon7:c.C899T:p.A300V;	0.934452014338444	0.674
18	19231724	G	C	18	21651763	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon9:c.C1058G:p.A353G;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon9:c.C1058G:p.A353G;ENSG00000158201:ENST00000578270:exon8:c.C473G:p.A158G;ENSG00000158201:ENST00000580981:exon7:c.C899G:p.A300G;	0.14650906684806	0.196
18	19231724	G	T	18	21651763	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon9:c.C1058A:p.A353D;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon9:c.C1058A:p.A353D;ENSG00000158201:ENST00000578270:exon8:c.C473A:p.A158D;ENSG00000158201:ENST00000580981:exon7:c.C899A:p.A300D;	0.166972949476774	0.224
18	19231725	C	A	18	21651764	y	y	splicing	ABHD3(NM_138340:exon10:c.1058-1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon10:c.1058-1G>T;ENST00000580981:exon8:c.899-1G>T;ENST00000578270:exon9:c.473-1G>T)	.	.	0.999986675681007	0.946
18	19231725	C	G	18	21651764	y	y	splicing	ABHD3(NM_138340:exon10:c.1058-1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon10:c.1058-1G>C;ENST00000580981:exon8:c.899-1G>C;ENST00000578270:exon9:c.473-1G>C)	.	.	0.999986675681007	0.946
18	19231725	C	T	18	21651764	y	y	splicing	ABHD3(NM_138340:exon10:c.1058-1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon10:c.1058-1G>A;ENST00000580981:exon8:c.899-1G>A;ENST00000578270:exon9:c.473-1G>A)	.	.	0.999986675681007	0.946
18	19231726	T	A	18	21651765	y	y	splicing	ABHD3(NM_138340:exon10:c.1058-2A>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon10:c.1058-2A>T;ENST00000580981:exon8:c.899-2A>T;ENST00000578270:exon9:c.473-2A>T)	.	.	0.999989917668626	0.946
18	19231726	T	C	18	21651765	y	y	splicing	ABHD3(NM_138340:exon10:c.1058-2A>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon10:c.1058-2A>G;ENST00000580981:exon8:c.899-2A>G;ENST00000578270:exon9:c.473-2A>G)	.	.	0.999989917668626	0.946
18	19231726	T	G	18	21651765	y	y	splicing	ABHD3(NM_138340:exon10:c.1058-2A>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon10:c.1058-2A>C;ENST00000580981:exon8:c.899-2A>C;ENST00000578270:exon9:c.473-2A>C)	.	.	0.999989917668626	0.946
18	19231727	T	A	18	21651766	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.78830705448209E-4	0.028
18	19231727	T	C	18	21651766	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.343257195884189	0.532
18	19231727	T	G	18	21651766	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.79636057148047E-4	0.132
18	19231728	C	A	18	21651767	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.11194981212355E-6	0.0
18	19231728	C	G	18	21651767	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.59478370563681E-6	0.0
18	19231728	C	T	18	21651767	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.82760661317178E-5	0.0
18	19231729	A	C	18	21651768	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.964696740442154	0.506
18	19231729	A	G	18	21651768	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.84019754741198E-4	0.078
18	19231729	A	T	18	21651768	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.99996971135572	0.946
18	19231730	G	A	18	21651769	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.27527125348479E-5	0.02
18	19231730	G	C	18	21651769	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0010112212187219	0.174
18	19231730	G	T	18	21651769	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00758532321614992	0.248
18	19231731	A	C	18	21651770	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00880327160287222	0.44
18	19231731	A	G	18	21651770	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.8715474631867E-5	0.054
18	19231731	A	T	18	21651770	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00844416054646531	0.436
18	19231732	C	A	18	21651771	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.67190155668058E-5	0.0
18	19231732	C	G	18	21651771	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.79973310716145E-6	0.0
18	19231732	C	T	18	21651771	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.94974549992702E-4	0.034
18	19231733	C	A	18	21651772	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.81216475309008E-5	0.0
18	19231733	C	G	18	21651772	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.4270753193825E-5	0.002
18	19231733	C	T	18	21651772	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.997512121511259	0.974
18	19231734	A	C	18	21651773	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.126013913475346	0.428
18	19231734	A	G	18	21651773	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00216423529946562	0.114
18	19231734	A	T	18	21651773	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999893168524595	0.96
18	19231735	A	C	18	21651774	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0334187511445252	0.402
18	19231735	A	G	18	21651774	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.05504267838149E-4	0.044
18	19231735	A	T	18	21651774	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0786453335242646	0.22
18	19231736	A	C	18	21651775	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0146890906595769	0.298
18	19231736	A	G	18	21651775	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.08200692764747E-4	0.108
18	19231736	A	T	18	21651775	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00926390691110989	0.312
18	19235043	A	C	18	21655082	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	1.01559384236425E-5	0.002
18	19235043	A	G	18	21655082	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	1.01559384236425E-5	0.0
18	19235043	A	T	18	21655082	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	2.41069364790736E-5	0.006
18	19235044	C	A	18	21655083	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	4.84449517638164E-5	0.024
18	19235044	C	G	18	21655083	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	3.62279994356454E-5	0.012
18	19235044	C	T	18	21655083	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	3.62279994356454E-5	0.01
18	19235045	C	A	18	21655084	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000580477:exon3:c.97-1G>T)	.	.	3.15849948155271E-5	0.038
18	19235045	C	G	18	21655084	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000580477:exon3:c.97-1G>C)	.	.	3.15849948155271E-5	0.038
18	19235045	C	T	18	21655084	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000580477:exon3:c.97-1G>A)	.	.	3.15849948155271E-5	0.038
18	19235046	T	A	18	21655085	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000580477:exon3:c.97-2A>T)	.	.	4.04701645548368E-5	0.01
18	19235046	T	C	18	21655085	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000580477:exon3:c.97-2A>G)	.	.	4.04701645548368E-5	0.008
18	19235046	T	G	18	21655085	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000580477:exon3:c.97-2A>C)	.	.	4.04701645548368E-5	0.008
18	19235047	G	A	18	21655086	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.00072023146173E-5	0.0
18	19235047	G	C	18	21655086	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.00072023146173E-5	0.004
18	19235047	G	T	18	21655086	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.00072023146173E-5	0.0
18	19235048	T	A	18	21655087	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.59034071532942E-5	0.0
18	19235048	T	C	18	21655087	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.40063699135737E-5	0.0
18	19235048	T	G	18	21655087	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.40063699135737E-5	0.0
18	19235049	G	A	18	21655088	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.15849948155271E-5	0.0
18	19235049	G	C	18	21655088	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.15849948155271E-5	0.0
18	19235049	G	T	18	21655088	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.15849948155271E-5	0.0
18	19235050	A	C	18	21655089	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.36195737818257E-5	0.016
18	19235050	A	G	18	21655089	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.36195737818257E-5	0.0
18	19235050	A	T	18	21655089	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.36195737818257E-5	0.0
18	19235051	T	A	18	21655090	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.14469246767614E-5	0.0
18	19235051	T	C	18	21655090	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.14469246767614E-5	0.002
18	19235051	T	G	18	21655090	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.14469246767614E-5	0.004
18	19235052	T	A	18	21655091	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.12646201848277E-5	0.02
18	19235052	T	C	18	21655091	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.19238312042624E-5	0.062
18	19235052	T	G	18	21655091	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.19238312042624E-5	0.068
18	19235053	A	C	18	21655092	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.256915070725E-5	0.0
18	19235053	A	G	18	21655092	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.256915070725E-5	0.0
18	19235053	A	T	18	21655092	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.1020973109669E-5	0.0
18	19235054	A	C	18	21655093	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.113491094326E-4	0.018
18	19235054	A	G	18	21655093	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.113491094326E-4	0.022
18	19235054	A	T	18	21655093	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.07626055534042E-5	0.018
18	19235055	A	C	18	21655094	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.05991138181789E-5	0.01
18	19235055	A	G	18	21655094	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.55183766894313E-5	0.008
18	19235055	A	T	18	21655094	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.38258961194127E-5	0.008
18	19235056	C	A	18	21655095	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.53617272819768E-5	0.002
18	19235056	C	G	18	21655095	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.53617272819768E-5	0.002
18	19235056	C	T	18	21655095	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.53617272819768E-5	0.002
18	19236814	A	C	18	21656853	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0019940468401818	0.142
18	19236814	A	G	18	21656853	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.23154847211164E-4	0.008
18	19236814	A	T	18	21656853	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.13236932744335E-4	0.052
18	19236815	A	C	18	21656854	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.23627761995303E-4	0.012
18	19236815	A	G	18	21656854	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.25797977192478E-4	0.012
18	19236815	A	T	18	21656854	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.24489425268258E-4	0.012
18	19236816	T	A	18	21656855	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.61792285434184E-4	0.056
18	19236816	T	C	18	21656855	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.97709714863868E-5	0.052
18	19236816	T	G	18	21656855	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.41379528469102E-4	0.076
18	19236817	T	A	18	21656856	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.14576212851621E-4	0.088
18	19236817	T	C	18	21656856	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.83858164128777E-4	0.016
18	19236817	T	G	18	21656856	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.24639881179495E-4	0.04
18	19236818	T	A	18	21656857	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.998507850141964	0.934
18	19236818	T	C	18	21656857	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999849368376829	0.978
18	19236818	T	G	18	21656857	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999639324566495	0.924
18	19236819	T	A	18	21656858	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999878374494964	0.958
18	19236819	T	C	18	21656858	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999107107724234	0.912
18	19236819	T	G	18	21656858	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999836927912314	0.958
18	19236820	A	C	18	21656859	y	y	splicing	ABHD3(NM_138340:exon9:c.1057+2T>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.1057+2T>G;ENST00000580981:exon7:c.898+2T>G;ENST00000578270:exon8:c.472+2T>G;ENST00000580477:exon2:c.96+2T>G)	.	.	0.999992076683048	0.936
18	19236820	A	G	18	21656859	y	y	splicing	ABHD3(NM_138340:exon9:c.1057+2T>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.1057+2T>C;ENST00000580981:exon7:c.898+2T>C;ENST00000578270:exon8:c.472+2T>C;ENST00000580477:exon2:c.96+2T>C)	.	.	0.999942840226682	0.908
18	19236820	A	T	18	21656859	y	y	splicing	ABHD3(NM_138340:exon9:c.1057+2T>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.1057+2T>A;ENST00000580981:exon7:c.898+2T>A;ENST00000578270:exon8:c.472+2T>A;ENST00000580477:exon2:c.96+2T>A)	.	.	0.999992076683048	0.936
18	19236821	C	A	18	21656860	y	y	splicing	ABHD3(NM_138340:exon9:c.1057+1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.1057+1G>T;ENST00000580981:exon7:c.898+1G>T;ENST00000578270:exon8:c.472+1G>T;ENST00000580477:exon2:c.96+1G>T)	.	.	0.999985666489905	0.948
18	19236821	C	G	18	21656860	y	y	splicing	ABHD3(NM_138340:exon9:c.1057+1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.1057+1G>C;ENST00000580981:exon7:c.898+1G>C;ENST00000578270:exon8:c.472+1G>C;ENST00000580477:exon2:c.96+1G>C)	.	.	0.999985666489905	0.948
18	19236821	C	T	18	21656860	y	y	splicing	ABHD3(NM_138340:exon9:c.1057+1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.1057+1G>A;ENST00000580981:exon7:c.898+1G>A;ENST00000578270:exon8:c.472+1G>A;ENST00000580477:exon2:c.96+1G>A)	.	.	0.999985666489905	0.946
18	19236822	C	A	18	21656861	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.G1057T:p.A353S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.G1057T:p.A353S;ENSG00000158201:ENST00000578270:exon7:c.G472T:p.A158S;ENSG00000158201:ENST00000580981:exon6:c.G898T:p.A300S;	0.999973131986973	0.992
18	19236822	C	G	18	21656861	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.G1057C:p.A353P;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.G1057C:p.A353P;ENSG00000158201:ENST00000578270:exon7:c.G472C:p.A158P;ENSG00000158201:ENST00000580981:exon6:c.G898C:p.A300P;	0.999990444434555	0.998
18	19236822	C	T	18	21656861	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.G1057A:p.A353T;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.G1057A:p.A353T;ENSG00000158201:ENST00000578270:exon7:c.G472A:p.A158T;ENSG00000158201:ENST00000580981:exon6:c.G898A:p.A300T;	0.999992964973863	1.0
18	19236823	A	C	18	21656862	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.T1056G:p.H352Q;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.T1056G:p.H352Q;ENSG00000158201:ENST00000578270:exon7:c.T471G:p.H157Q;ENSG00000158201:ENST00000580981:exon6:c.T897G:p.H299Q;	5.08161186790782E-4	0.136
18	19236823	A	G	18	21656862	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon8:c.T1056C:p.H352H;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.T1056C:p.H352H;ENSG00000158201:ENST00000578270:exon7:c.T471C:p.H157H;ENSG00000158201:ENST00000580981:exon6:c.T897C:p.H299H;	3.13328920403974E-4	0.05
18	19236823	A	T	18	21656862	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.T1056A:p.H352Q;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.T1056A:p.H352Q;ENSG00000158201:ENST00000578270:exon7:c.T471A:p.H157Q;ENSG00000158201:ENST00000580981:exon6:c.T897A:p.H299Q;	3.22933423365262E-4	0.084
18	19236824	T	A	18	21656863	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.A1055T:p.H352L;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.A1055T:p.H352L;ENSG00000158201:ENST00000578270:exon7:c.A470T:p.H157L;ENSG00000158201:ENST00000580981:exon6:c.A896T:p.H299L;	0.992377278177507	0.844
18	19236824	T	C	18	21656863	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.A1055G:p.H352R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.A1055G:p.H352R;ENSG00000158201:ENST00000578270:exon7:c.A470G:p.H157R;ENSG00000158201:ENST00000580981:exon6:c.A896G:p.H299R;	0.630690916153755	0.326
18	19236824	T	G	18	21656863	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.A1055C:p.H352P;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.A1055C:p.H352P;ENSG00000158201:ENST00000578270:exon7:c.A470C:p.H157P;ENSG00000158201:ENST00000580981:exon6:c.A896C:p.H299P;	0.00865333503669078	0.052
18	19236986	G	A	18	21657025	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.C893T:p.A298V;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.C893T:p.A298V;ENSG00000158201:ENST00000578270:exon7:c.C308T:p.A103V;ENSG00000158201:ENST00000580981:exon6:c.C734T:p.A245V;	0.870627947586848	0.722
18	19236986	G	C	18	21657025	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.C893G:p.A298G;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.C893G:p.A298G;ENSG00000158201:ENST00000578270:exon7:c.C308G:p.A103G;ENSG00000158201:ENST00000580981:exon6:c.C734G:p.A245G;	0.235312402991096	0.472
18	19236986	G	T	18	21657025	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.C893A:p.A298D;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.C893A:p.A298D;ENSG00000158201:ENST00000578270:exon7:c.C308A:p.A103D;ENSG00000158201:ENST00000580981:exon6:c.C734A:p.A245D;	0.526259899709392	0.52
18	19236987	C	A	18	21657026	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.G892T:p.A298S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.G892T:p.A298S;ENSG00000158201:ENST00000578270:exon7:c.G307T:p.A103S;ENSG00000158201:ENST00000580981:exon6:c.G733T:p.A245S;	0.987534290592319	0.888
18	19236987	C	G	18	21657026	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.G892C:p.A298P;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.G892C:p.A298P;ENSG00000158201:ENST00000578270:exon7:c.G307C:p.A103P;ENSG00000158201:ENST00000580981:exon6:c.G733C:p.A245P;	0.988745865007623	0.82
18	19236987	C	T	18	21657026	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon8:c.G892A:p.A298T;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon8:c.G892A:p.A298T;ENSG00000158201:ENST00000578270:exon7:c.G307A:p.A103T;ENSG00000158201:ENST00000580981:exon6:c.G733A:p.A245T;	0.980814026597037	0.67
18	19236988	C	A	18	21657027	y	y	splicing	ABHD3(NM_138340:exon9:c.892-1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.892-1G>T;ENST00000580981:exon7:c.733-1G>T;ENST00000578270:exon8:c.307-1G>T)	.	.	0.999981760802075	0.936
18	19236988	C	G	18	21657027	y	y	splicing	ABHD3(NM_138340:exon9:c.892-1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.892-1G>C;ENST00000580981:exon7:c.733-1G>C;ENST00000578270:exon8:c.307-1G>C)	.	.	0.999981760802075	0.936
18	19236988	C	T	18	21657027	y	y	splicing	ABHD3(NM_138340:exon9:c.892-1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.892-1G>A;ENST00000580981:exon7:c.733-1G>A;ENST00000578270:exon8:c.307-1G>A)	.	.	0.999981760802075	0.938
18	19236989	T	A	18	21657028	y	y	splicing	ABHD3(NM_138340:exon9:c.892-2A>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.892-2A>T;ENST00000580981:exon7:c.733-2A>T;ENST00000578270:exon8:c.307-2A>T)	.	.	0.999992752818502	0.926
18	19236989	T	C	18	21657028	y	y	splicing	ABHD3(NM_138340:exon9:c.892-2A>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.892-2A>G;ENST00000580981:exon7:c.733-2A>G;ENST00000578270:exon8:c.307-2A>G)	.	.	0.999990585896813	0.924
18	19236989	T	G	18	21657028	y	y	splicing	ABHD3(NM_138340:exon9:c.892-2A>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon9:c.892-2A>C;ENST00000580981:exon7:c.733-2A>C;ENST00000578270:exon8:c.307-2A>C)	.	.	0.999990585896813	0.924
18	19236990	G	A	18	21657029	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00733256962176463	0.146
18	19236990	G	C	18	21657029	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.994409479416705	0.842
18	19236990	G	T	18	21657029	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.809292827837637	0.628
18	19236991	A	C	18	21657030	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.80151823137606E-5	0.0
18	19236991	A	G	18	21657030	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.1214330910845E-5	0.0
18	19236991	A	T	18	21657030	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.91013034119534E-4	0.02
18	19236992	A	C	18	21657031	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.941351201651624	0.692
18	19236992	A	G	18	21657031	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0790538305432732	0.188
18	19236992	A	T	18	21657031	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.964797577341956	0.722
18	19236993	A	C	18	21657032	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.80313939818853	0.524
18	19236993	A	G	18	21657032	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00676694512545943	0.102
18	19236993	A	T	18	21657032	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.743584164134233	0.468
18	19236994	C	A	18	21657033	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.85547433169704E-5	0.016
18	19236994	C	G	18	21657033	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.5680047816731E-5	0.014
18	19236994	C	T	18	21657033	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.24789464270389E-4	0.024
18	19236995	A	C	18	21657034	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00714950492939241	0.244
18	19236995	A	G	18	21657034	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.13883898337859E-4	0.004
18	19236995	A	T	18	21657034	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.99945931092742	0.99
18	19236996	C	A	18	21657035	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.58215457388235E-5	0.004
18	19236996	C	G	18	21657035	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.87098209997145E-5	0.002
18	19236996	C	T	18	21657035	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.1175942715591E-4	0.002
18	19236997	A	C	18	21657036	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0176486601186389	0.292
18	19236997	A	G	18	21657036	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.67607929827611E-5	0.0
18	19236997	A	T	18	21657036	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999820281741776	0.9
18	19236998	A	C	18	21657037	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.190239489013491	0.444
18	19236998	A	G	18	21657037	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.43165337190893E-4	0.108
18	19236998	A	T	18	21657037	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.371270283425873	0.45
18	19236999	A	C	18	21657038	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00357243791975291	0.114
18	19236999	A	G	18	21657038	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.26142336078303E-5	0.0
18	19236999	A	T	18	21657038	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00318004040043793	0.112
18	19237057	T	A	18	21657096	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.72156716785238E-5	0.0
18	19237057	T	C	18	21657096	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.79310572903282E-5	0.0
18	19237057	T	G	18	21657096	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.03765417231877E-5	0.0
18	19237058	C	A	18	21657097	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.33083050299662E-4	0.004
18	19237058	C	G	18	21657097	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.69633545841934E-5	0.0
18	19237058	C	T	18	21657097	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.62664281804568E-4	0.0
18	19237059	T	A	18	21657098	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.03712170986111E-4	0.006
18	19237059	T	C	18	21657098	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.05369420283151E-4	0.014
18	19237059	T	G	18	21657098	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00228114551131219	0.056
18	19237060	C	A	18	21657099	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999391912246512	0.856
18	19237060	C	G	18	21657099	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.988229031666142	0.794
18	19237060	C	T	18	21657099	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.95402317027097	0.692
18	19237061	C	A	18	21657100	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.62130004435748E-4	0.048
18	19237061	C	G	18	21657100	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.31979591021178E-4	0.11
18	19237061	C	T	18	21657100	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.94811704842091E-4	0.04
18	19237062	T	A	18	21657101	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.995697707587812	0.774
18	19237062	T	C	18	21657101	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.687844503943134	0.584
18	19237062	T	G	18	21657101	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.975707923706587	0.668
18	19237063	A	C	18	21657102	y	y	splicing	ABHD3(NM_138340:exon8:c.891+2T>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.891+2T>G;ENST00000580981:exon6:c.732+2T>G;ENST00000578270:exon7:c.306+2T>G)	.	.	0.999989917668626	0.928
18	19237063	A	G	18	21657102	y	y	splicing	ABHD3(NM_138340:exon8:c.891+2T>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.891+2T>C;ENST00000580981:exon6:c.732+2T>C;ENST00000578270:exon7:c.306+2T>C)	.	.	0.993179459523591	0.624
18	19237063	A	T	18	21657102	y	y	splicing	ABHD3(NM_138340:exon8:c.891+2T>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.891+2T>A;ENST00000580981:exon6:c.732+2T>A;ENST00000578270:exon7:c.306+2T>A)	.	.	0.999989917668626	0.928
18	19237064	C	A	18	21657103	y	y	splicing	ABHD3(NM_138340:exon8:c.891+1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.891+1G>T;ENST00000580981:exon6:c.732+1G>T;ENST00000578270:exon7:c.306+1G>T)	.	.	0.999981760802075	0.944
18	19237064	C	G	18	21657103	y	y	splicing	ABHD3(NM_138340:exon8:c.891+1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.891+1G>C;ENST00000580981:exon6:c.732+1G>C;ENST00000578270:exon7:c.306+1G>C)	.	.	0.999981760802075	0.944
18	19237064	C	T	18	21657103	y	y	splicing	ABHD3(NM_138340:exon8:c.891+1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.891+1G>A;ENST00000580981:exon6:c.732+1G>A;ENST00000578270:exon7:c.306+1G>A)	.	.	0.999981760802075	0.944
18	19237065	C	A	18	21657104	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.G891T:p.K297N;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.G891T:p.K297N;ENSG00000158201:ENST00000578270:exon6:c.G306T:p.K102N;ENSG00000158201:ENST00000580981:exon5:c.G732T:p.K244N;	0.999970255529179	1.0
18	19237065	C	G	18	21657104	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.G891C:p.K297N;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.G891C:p.K297N;ENSG00000158201:ENST00000578270:exon6:c.G306C:p.K102N;ENSG00000158201:ENST00000580981:exon5:c.G732C:p.K244N;	0.999979418889712	0.998
18	19237065	C	T	18	21657104	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon7:c.G891A:p.K297K;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.G891A:p.K297K;ENSG00000158201:ENST00000578270:exon6:c.G306A:p.K102K;ENSG00000158201:ENST00000580981:exon5:c.G732A:p.K244K;	0.999800013374871	1.0
18	19237066	T	A	18	21657105	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.A890T:p.K297M;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.A890T:p.K297M;ENSG00000158201:ENST00000578270:exon6:c.A305T:p.K102M;ENSG00000158201:ENST00000580981:exon5:c.A731T:p.K244M;	0.995528587768701	0.958
18	19237066	T	C	18	21657105	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.A890G:p.K297R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.A890G:p.K297R;ENSG00000158201:ENST00000578270:exon6:c.A305G:p.K102R;ENSG00000158201:ENST00000580981:exon5:c.A731G:p.K244R;	0.998645299791902	0.946
18	19237066	T	G	18	21657105	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.A890C:p.K297T;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.A890C:p.K297T;ENSG00000158201:ENST00000578270:exon6:c.A305C:p.K102T;ENSG00000158201:ENST00000580981:exon5:c.A731C:p.K244T;	0.988075502416364	0.928
18	19237067	T	A	18	21657106	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon7:c.A889T:p.K297X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon7:c.A889T:p.K297X;ENSG00000158201:ENST00000578270:exon6:c.A304T:p.K102X;ENSG00000158201:ENST00000580981:exon5:c.A730T:p.K244X;	0.971283458721282	0.742
18	19237067	T	C	18	21657106	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.A889G:p.K297E;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.A889G:p.K297E;ENSG00000158201:ENST00000578270:exon6:c.A304G:p.K102E;ENSG00000158201:ENST00000580981:exon5:c.A730G:p.K244E;	0.199300213735223	0.396
18	19237067	T	G	18	21657106	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.A889C:p.K297Q;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.A889C:p.K297Q;ENSG00000158201:ENST00000578270:exon6:c.A304C:p.K102Q;ENSG00000158201:ENST00000580981:exon5:c.A730C:p.K244Q;	0.0649084703423193	0.332
18	19237112	G	A	18	21657151	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.C844T:p.H282Y;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.C844T:p.H282Y;ENSG00000158201:ENST00000578270:exon6:c.C259T:p.H87Y;ENSG00000158201:ENST00000580981:exon5:c.C685T:p.H229Y;	0.5171547334605	0.542
18	19237112	G	C	18	21657151	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.C844G:p.H282D;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.C844G:p.H282D;ENSG00000158201:ENST00000578270:exon6:c.C259G:p.H87D;ENSG00000158201:ENST00000580981:exon5:c.C685G:p.H229D;	0.425751712872908	0.372
18	19237112	G	T	18	21657151	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.C844A:p.H282N;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.C844A:p.H282N;ENSG00000158201:ENST00000578270:exon6:c.C259A:p.H87N;ENSG00000158201:ENST00000580981:exon5:c.C685A:p.H229N;	0.709575830129564	0.516
18	19237113	C	A	18	21657152	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.G843T:p.K281N;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.G843T:p.K281N;ENSG00000158201:ENST00000578270:exon6:c.G258T:p.K86N;ENSG00000158201:ENST00000580981:exon5:c.G684T:p.K228N;	0.497604731087404	0.482
18	19237113	C	G	18	21657152	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon7:c.G843C:p.K281N;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.G843C:p.K281N;ENSG00000158201:ENST00000578270:exon6:c.G258C:p.K86N;ENSG00000158201:ENST00000580981:exon5:c.G684C:p.K228N;	0.049031572463933	0.222
18	19237113	C	T	18	21657152	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon7:c.G843A:p.K281K;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon7:c.G843A:p.K281K;ENSG00000158201:ENST00000578270:exon6:c.G258A:p.K86K;ENSG00000158201:ENST00000580981:exon5:c.G684A:p.K228K;	0.0023424923918087	0.15
18	19237114	C	A	18	21657153	y	y	splicing	ABHD3(NM_138340:exon8:c.843-1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.843-1G>T;ENST00000580981:exon6:c.684-1G>T;ENST00000578270:exon7:c.258-1G>T)	.	.	0.999981760802075	0.94
18	19237114	C	G	18	21657153	y	y	splicing	ABHD3(NM_138340:exon8:c.843-1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.843-1G>C;ENST00000580981:exon6:c.684-1G>C;ENST00000578270:exon7:c.258-1G>C)	.	.	0.999981760802075	0.938
18	19237114	C	T	18	21657153	y	y	splicing	ABHD3(NM_138340:exon8:c.843-1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.843-1G>A;ENST00000580981:exon6:c.684-1G>A;ENST00000578270:exon7:c.258-1G>A)	.	.	0.999981760802075	0.94
18	19237115	T	A	18	21657154	y	y	splicing	ABHD3(NM_138340:exon8:c.843-2A>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.843-2A>T;ENST00000580981:exon6:c.684-2A>T;ENST00000578270:exon7:c.258-2A>T)	.	.	0.999989917668626	0.926
18	19237115	T	C	18	21657154	y	y	splicing	ABHD3(NM_138340:exon8:c.843-2A>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.843-2A>G;ENST00000580981:exon6:c.684-2A>G;ENST00000578270:exon7:c.258-2A>G)	.	.	0.999989917668626	0.926
18	19237115	T	G	18	21657154	y	y	splicing	ABHD3(NM_138340:exon8:c.843-2A>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon8:c.843-2A>C;ENST00000580981:exon6:c.684-2A>C;ENST00000578270:exon7:c.258-2A>C)	.	.	0.999989917668626	0.926
18	19237116	G	A	18	21657155	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.04105524300245E-4	0.032
18	19237116	G	C	18	21657155	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999766643585243	0.88
18	19237116	G	T	18	21657155	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.958969657052222	0.446
18	19237117	G	A	18	21657156	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.93975426324669E-4	0.02
18	19237117	G	C	18	21657156	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.17646604085603E-4	0.03
18	19237117	G	T	18	21657156	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.8069724924802E-4	0.038
18	19237118	A	C	18	21657157	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.016932571844562	0.232
18	19237118	A	G	18	21657157	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00125123669152748	0.082
18	19237118	A	T	18	21657157	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0128704885103351	0.216
18	19237119	A	C	18	21657158	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0950676510247307	0.174
18	19237119	A	G	18	21657158	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.79753953704409E-4	0.014
18	19237119	A	T	18	21657158	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00855290174268232	0.124
18	19237120	C	A	18	21657159	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.49246234386112E-5	0.0
18	19237120	C	G	18	21657159	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.1186241136256E-5	0.01
18	19237120	C	T	18	21657159	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.3130278944358E-5	0.002
18	19237121	A	C	18	21657160	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00100570807882748	0.078
18	19237121	A	G	18	21657160	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.32788972221636E-5	0.0
18	19237121	A	T	18	21657160	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.994278783413049	0.968
18	19237122	A	C	18	21657161	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00721343858416072	0.174
18	19237122	A	G	18	21657161	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.6638722118127E-4	0.004
18	19237122	A	T	18	21657161	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00643067317154527	0.138
18	19237123	A	C	18	21657162	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0186433061227187	0.132
18	19237123	A	G	18	21657162	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.62461392428796E-4	0.006
18	19237123	A	T	18	21657162	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0243854691730691	0.102
18	19237124	A	C	18	21657163	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.08985582472508E-4	0.144
18	19237124	A	G	18	21657163	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.51112308413853E-4	0.056
18	19237124	A	T	18	21657163	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00241331913554437	0.172
18	19237125	G	A	18	21657164	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.31935269553825E-4	0.016
18	19237125	G	C	18	21657164	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.06397071663021E-5	0.014
18	19237125	G	T	18	21657164	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.85574890814032E-4	0.038
18	19239123	T	A	18	21659162	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00419159743034745	0.014
18	19239123	T	C	18	21659162	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.53951002467383E-4	0.0
18	19239123	T	G	18	21659162	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00653467306346196	0.004
18	19239124	G	A	18	21659163	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.89951178797092E-4	0.042
18	19239124	G	C	18	21659163	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.47594084820921E-5	0.004
18	19239124	G	T	18	21659163	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.26412274698452E-4	0.0
18	19239125	A	C	18	21659164	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.997028420332592	0.892
18	19239125	A	G	18	21659164	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.991827822047049	0.904
18	19239125	A	T	18	21659164	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999199480650366	0.85
18	19239126	C	A	18	21659165	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999990519128308	0.998
18	19239126	C	G	18	21659165	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999990519128308	1.0
18	19239126	C	T	18	21659165	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999990508423884	1.0
18	19239127	T	A	18	21659166	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999881978416726	0.968
18	19239127	T	C	18	21659166	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999823136180155	0.992
18	19239127	T	G	18	21659166	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999281116612601	0.964
18	19239128	C	A	18	21659167	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.991580783312624	0.628
18	19239128	C	G	18	21659167	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.992850418738339	0.62
18	19239128	C	T	18	21659167	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.13519442455431E-4	0.006
18	19239129	A	C	18	21659168	y	y	splicing	ABHD3(NM_138340:exon7:c.842+2T>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.842+2T>G;ENST00000580981:exon5:c.683+2T>G;ENST00000578270:exon6:c.257+2T>G)	.	.	0.999989917668626	0.946
18	19239129	A	G	18	21659168	y	y	splicing	ABHD3(NM_138340:exon7:c.842+2T>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.842+2T>C;ENST00000580981:exon5:c.683+2T>C;ENST00000578270:exon6:c.257+2T>C)	.	.	0.99995132258935	0.884
18	19239129	A	T	18	21659168	y	y	splicing	ABHD3(NM_138340:exon7:c.842+2T>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.842+2T>A;ENST00000580981:exon5:c.683+2T>A;ENST00000578270:exon6:c.257+2T>A)	.	.	0.999989917668626	0.946
18	19239130	C	A	18	21659169	y	y	splicing	ABHD3(NM_138340:exon7:c.842+1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.842+1G>T;ENST00000580981:exon5:c.683+1G>T;ENST00000578270:exon6:c.257+1G>T)	.	.	0.999986675681007	0.946
18	19239130	C	G	18	21659169	y	y	splicing	ABHD3(NM_138340:exon7:c.842+1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.842+1G>C;ENST00000580981:exon5:c.683+1G>C;ENST00000578270:exon6:c.257+1G>C)	.	.	0.999986675681007	0.946
18	19239130	C	T	18	21659169	y	y	splicing	ABHD3(NM_138340:exon7:c.842+1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.842+1G>A;ENST00000580981:exon5:c.683+1G>A;ENST00000578270:exon6:c.257+1G>A)	.	.	0.999986675681007	0.946
18	19239131	T	A	18	21659170	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.A842T:p.K281M;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A842T:p.K281M;ENSG00000158201:ENST00000578270:exon5:c.A257T:p.K86M;ENSG00000158201:ENST00000580981:exon4:c.A683T:p.K228M;	0.0284884492711057	0.228
18	19239131	T	C	18	21659170	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.A842G:p.K281R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A842G:p.K281R;ENSG00000158201:ENST00000578270:exon5:c.A257G:p.K86R;ENSG00000158201:ENST00000580981:exon4:c.A683G:p.K228R;	0.0095689487556453	0.118
18	19239131	T	G	18	21659170	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.A842C:p.K281T;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A842C:p.K281T;ENSG00000158201:ENST00000578270:exon5:c.A257C:p.K86T;ENSG00000158201:ENST00000580981:exon4:c.A683C:p.K228T;	0.0594897389215684	0.33
18	19239132	T	A	18	21659171	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon6:c.A841T:p.K281X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon6:c.A841T:p.K281X;ENSG00000158201:ENST00000578270:exon5:c.A256T:p.K86X;ENSG00000158201:ENST00000580981:exon4:c.A682T:p.K228X;	0.999387664285138	0.95
18	19239132	T	C	18	21659171	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.A841G:p.K281E;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A841G:p.K281E;ENSG00000158201:ENST00000578270:exon5:c.A256G:p.K86E;ENSG00000158201:ENST00000580981:exon4:c.A682G:p.K228E;	0.996497474788013	0.902
18	19239132	T	G	18	21659171	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.A841C:p.K281Q;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A841C:p.K281Q;ENSG00000158201:ENST00000578270:exon5:c.A256C:p.K86Q;ENSG00000158201:ENST00000580981:exon4:c.A682C:p.K228Q;	0.987125039695241	0.856
18	19239133	A	C	18	21659172	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.T840G:p.N280K;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.T840G:p.N280K;ENSG00000158201:ENST00000578270:exon5:c.T255G:p.N85K;ENSG00000158201:ENST00000580981:exon4:c.T681G:p.N227K;	2.32430181191701E-4	0.022
18	19239133	A	G	18	21659172	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon6:c.T840C:p.N280N;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.T840C:p.N280N;ENSG00000158201:ENST00000578270:exon5:c.T255C:p.N85N;ENSG00000158201:ENST00000580981:exon4:c.T681C:p.N227N;	2.39079578426075E-4	0.008
18	19239133	A	T	18	21659172	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.T840A:p.N280K;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.T840A:p.N280K;ENSG00000158201:ENST00000578270:exon5:c.T255A:p.N85K;ENSG00000158201:ENST00000580981:exon4:c.T681A:p.N227K;	1.63833909114183E-4	0.012
18	19239303	T	A	18	21659342	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.A670T:p.M224L;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A670T:p.M224L;ENSG00000158201:ENST00000578270:exon5:c.A85T:p.M29L;ENSG00000158201:ENST00000580981:exon4:c.A511T:p.M171L;	0.481425774726298	0.65
18	19239303	T	C	18	21659342	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.A670G:p.M224V;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A670G:p.M224V;ENSG00000158201:ENST00000578270:exon5:c.A85G:p.M29V;ENSG00000158201:ENST00000580981:exon4:c.A511G:p.M171V;	0.011877469152841	0.102
18	19239303	T	G	18	21659342	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon6:c.A670C:p.M224L;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A670C:p.M224L;ENSG00000158201:ENST00000578270:exon5:c.A85C:p.M29L;ENSG00000158201:ENST00000580981:exon4:c.A511C:p.M171L;	0.478817155834654	0.5
18	19239304	T	A	18	21659343	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon6:c.A669T:p.G223G;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000578270:exon5:c.A84T:p.R28S;ENSG00000158201:ENST00000580981:exon4:c.A510T:p.R170S;	0.0191520660428981	0.118
18	19239304	T	C	18	21659343	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon6:c.A669G:p.G223G;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon6:c.A669G:p.G223G;ENSG00000158201:ENST00000578270:exon5:c.A84G:p.R28R;ENSG00000158201:ENST00000580981:exon4:c.A510G:p.R170R;	0.00131170539345036	0.008
18	19239304	T	G	18	21659343	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon6:c.A669C:p.G223G;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000578270:exon5:c.A84C:p.R28S;ENSG00000158201:ENST00000580981:exon4:c.A510C:p.R170S;	0.0189933090861935	0.126
18	19239305	C	A	18	21659344	y	y	splicing	ABHD3(NM_138340:exon7:c.669-1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.669-1G>T;ENST00000580981:exon5:c.510-1G>T;ENST00000578270:exon6:c.84-1G>T;ENST00000577891:exon7:c.1039-1G>T)	.	.	0.999985532734767	0.938
18	19239305	C	G	18	21659344	y	y	splicing	ABHD3(NM_138340:exon7:c.669-1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.669-1G>C;ENST00000580981:exon5:c.510-1G>C;ENST00000578270:exon6:c.84-1G>C;ENST00000577891:exon7:c.1039-1G>C)	.	.	0.999985532734767	0.938
18	19239305	C	T	18	21659344	y	y	splicing	ABHD3(NM_138340:exon7:c.669-1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.669-1G>A;ENST00000580981:exon5:c.510-1G>A;ENST00000578270:exon6:c.84-1G>A;ENST00000577891:exon7:c.1039-1G>A)	.	.	0.999985532734767	0.938
18	19239306	T	A	18	21659345	y	y	splicing	ABHD3(NM_138340:exon7:c.669-2A>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.669-2A>T;ENST00000580981:exon5:c.510-2A>T;ENST00000578270:exon6:c.84-2A>T;ENST00000577891:exon7:c.1039-2A>T)	.	.	0.999988247793601	0.93
18	19239306	T	C	18	21659345	y	y	splicing	ABHD3(NM_138340:exon7:c.669-2A>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.669-2A>G;ENST00000580981:exon5:c.510-2A>G;ENST00000578270:exon6:c.84-2A>G;ENST00000577891:exon7:c.1039-2A>G)	.	.	0.999988247793601	0.93
18	19239306	T	G	18	21659345	y	y	splicing	ABHD3(NM_138340:exon7:c.669-2A>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon7:c.669-2A>C;ENST00000580981:exon5:c.510-2A>C;ENST00000578270:exon6:c.84-2A>C;ENST00000577891:exon7:c.1039-2A>C)	.	.	0.999988247793601	0.93
18	19239307	A	C	18	21659346	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.957786288882187	0.676
18	19239307	A	G	18	21659346	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.51677411054644E-5	0.0
18	19239307	A	T	18	21659346	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.270070066484127	0.426
18	19239308	A	C	18	21659347	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.81921019460721E-4	0.02
18	19239308	A	G	18	21659347	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.99963775504206E-4	0.022
18	19239308	A	T	18	21659347	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.36695961723285E-4	0.028
18	19239309	A	C	18	21659348	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.996042255824007	0.922
18	19239309	A	G	18	21659348	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.210278344458261	0.442
18	19239309	A	T	18	21659348	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.995293775603393	0.932
18	19239310	A	C	18	21659349	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999488495241257	0.948
18	19239310	A	G	18	21659349	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.56979962019334E-4	0.008
18	19239310	A	T	18	21659349	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00501084009732039	0.12
18	19239311	T	A	18	21659350	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.97994374756174E-5	0.0
18	19239311	T	C	18	21659350	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.80922520506749E-4	0.002
18	19239311	T	G	18	21659350	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.13689299208798E-4	0.002
18	19239312	G	A	18	21659351	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.75896939201364E-5	0.012
18	19239312	G	C	18	21659351	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00118953711477415	0.066
18	19239312	G	T	18	21659351	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0026792275009874	0.05
18	19239313	G	A	18	21659352	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.96553171454103E-5	0.116
18	19239313	G	C	18	21659352	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.42029310162843E-4	0.152
18	19239313	G	T	18	21659352	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.69483621214637E-4	0.198
18	19239314	G	A	18	21659353	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.85996746766009E-5	0.088
18	19239314	G	C	18	21659353	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.25315482378997E-4	0.122
18	19239314	G	T	18	21659353	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.58574716108584E-4	0.102
18	19239315	G	A	18	21659354	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.54302132055632E-5	0.156
18	19239315	G	C	18	21659354	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.78955991755434E-5	0.128
18	19239315	G	T	18	21659354	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.94178033050036E-4	0.208
18	19239316	A	C	18	21659355	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.978577569352677	0.76
18	19239316	A	G	18	21659355	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.177931072586501	0.444
18	19239316	A	T	18	21659355	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.985067909695824	0.778
18	19243631	A	C	18	21663670	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.40053381145528E-4	0.0
18	19243631	A	G	18	21663670	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.40053381145528E-4	0.0
18	19243631	A	T	18	21663670	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.8703588275862E-4	0.002
18	19243632	A	C	18	21663671	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.77393242279274E-4	0.006
18	19243632	A	G	18	21663671	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.77393242279274E-4	0.01
18	19243632	A	T	18	21663671	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.77393242279274E-4	0.024
18	19243633	T	A	18	21663672	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.69439264402225E-5	0.0
18	19243633	T	C	18	21663672	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.69439264402225E-5	0.0
18	19243633	T	G	18	21663672	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.69439264402225E-5	0.0
18	19243634	A	C	18	21663673	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.42359654212896E-4	0.008
18	19243634	A	G	18	21663673	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.42359654212896E-4	0.008
18	19243634	A	T	18	21663673	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.15628710579927E-4	0.008
18	19243635	C	A	18	21663674	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.05923468377003E-4	0.006
18	19243635	C	G	18	21663674	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.39218919234988E-4	0.006
18	19243635	C	T	18	21663674	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.05923468377003E-4	0.006
18	19243636	C	A	18	21663675	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.90004467425653E-4	0.004
18	19243636	C	G	18	21663675	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.38299711020094E-4	0.004
18	19243636	C	T	18	21663675	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.90004467425653E-4	0.004
18	19243637	A	C	18	21663676	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000578270:exon5:c.83+2T>G;ENST00000577891:exon6:c.1038+2T>G)	.	.	0.432280797039901	0.726
18	19243637	A	G	18	21663676	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000578270:exon5:c.83+2T>C;ENST00000577891:exon6:c.1038+2T>C)	.	.	0.432280797039901	0.726
18	19243637	A	T	18	21663676	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000578270:exon5:c.83+2T>A;ENST00000577891:exon6:c.1038+2T>A)	.	.	0.432280797039901	0.71
18	19243638	C	A	18	21663677	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000578270:exon5:c.83+1G>T;ENST00000577891:exon6:c.1038+1G>T)	.	.	0.00601922562764378	0.122
18	19243638	C	G	18	21663677	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000578270:exon5:c.83+1G>C;ENST00000577891:exon6:c.1038+1G>C)	.	.	0.00539484932215648	0.11
18	19243638	C	T	18	21663677	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000578270:exon5:c.83+1G>A;ENST00000577891:exon6:c.1038+1G>A)	.	.	0.00706258095309942	0.126
18	19243639	C	A	18	21663678	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000578270:exon4:c.G83T:p.R28I;	0.00870650430444743	0.05
18	19243639	C	G	18	21663678	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000578270:exon4:c.G83C:p.R28T;	0.00141775007241197	0.004
18	19243639	C	T	18	21663678	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000578270:exon4:c.G83A:p.R28K;	0.0249681078020574	0.148
18	19243640	T	A	18	21663679	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000578270:exon4:c.A82T:p.R28X;	2.43718084380524E-4	0.388
18	19243640	T	C	18	21663679	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000578270:exon4:c.A82G:p.R28G;	1.20497298200597E-4	0.068
18	19243640	T	G	18	21663679	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000578270:exon4:c.A82C:p.R28R;	6.14656354099398E-5	0.0
18	19243641	G	A	18	21663680	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000578270:exon4:c.C81T:p.P27P;	5.29486403526187E-4	0.02
18	19243641	G	C	18	21663680	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000578270:exon4:c.C81G:p.P27P;	1.71867216793714E-4	0.004
18	19243641	G	T	18	21663680	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000578270:exon4:c.C81A:p.P27P;	3.44464987904123E-4	0.008
18	19244071	A	C	18	21664110	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	2.19493325169292E-4	0.052
18	19244071	A	G	18	21664110	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	1.36431553409959E-4	0.05
18	19244071	A	T	18	21664110	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	5.47628115540256E-4	0.108
18	19244072	A	C	18	21664111	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	4.87458501018297E-4	0.094
18	19244072	A	G	18	21664111	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	5.62713994546883E-4	0.092
18	19244072	A	T	18	21664111	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	7.4819948025129E-4	0.096
18	19244073	C	A	18	21664112	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	2.62802741611182E-5	0.024
18	19244073	C	G	18	21664112	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	2.46824294221332E-4	0.116
18	19244073	C	T	18	21664112	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	8.68428648088118E-5	0.07
18	19244074	C	A	18	21664113	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.999579717302466	0.756
18	19244074	C	G	18	21664113	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.999835523162671	0.93
18	19244074	C	T	18	21664113	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.999883010637474	0.866
18	19244075	T	A	18	21664114	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.999687049808889	0.942
18	19244075	T	C	18	21664114	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.999421188058145	0.948
18	19244075	T	G	18	21664114	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.998933445962509	0.914
18	19244076	T	A	18	21664115	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.999918025875094	0.976
18	19244076	T	C	18	21664115	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.998934379598661	0.738
18	19244076	T	G	18	21664115	y	y	intronic	ABHD3	.	.	UTR5;UTR3	ENSG00000158201;ENSG00000158201	.	.	0.999813043842534	0.98
18	19244077	A	C	18	21664116	y	y	splicing	ABHD3(NM_138340:exon6:c.668+2T>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.668+2T>G)	.	.	0.999988247793601	0.95
18	19244077	A	G	18	21664116	y	y	splicing	ABHD3(NM_138340:exon6:c.668+2T>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.668+2T>C)	.	.	0.99991522016916	0.916
18	19244077	A	T	18	21664116	y	y	splicing	ABHD3(NM_138340:exon6:c.668+2T>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.668+2T>A)	.	.	0.999988247793601	0.95
18	19244078	C	A	18	21664117	y	y	splicing	ABHD3(NM_138340:exon6:c.668+1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.668+1G>T)	.	.	0.999990361384395	0.948
18	19244078	C	G	18	21664117	y	y	splicing	ABHD3(NM_138340:exon6:c.668+1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.668+1G>C)	.	.	0.999990361384395	0.948
18	19244078	C	T	18	21664117	y	y	splicing	ABHD3(NM_138340:exon6:c.668+1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.668+1G>A)	.	.	0.999990361384395	0.948
18	19244079	C	A	18	21664118	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.G668T:p.G223V;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.G668T:p.G223V;	0.999981451813413	0.996
18	19244079	C	G	18	21664118	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.G668C:p.G223A;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.G668C:p.G223A;	0.999993884479677	0.992
18	19244079	C	T	18	21664118	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.G668A:p.G223E;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.G668A:p.G223E;	0.99998598238935	0.998
18	19244080	C	A	18	21664119	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon5:c.G667T:p.G223X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon5:c.G667T:p.G223X;	0.994450779833111	0.894
18	19244080	C	G	18	21664119	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.G667C:p.G223R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.G667C:p.G223R;	0.993635401291653	0.902
18	19244080	C	T	18	21664119	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.G667A:p.G223R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.G667A:p.G223R;	0.978076077262064	0.658
18	19244081	T	A	18	21664120	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon5:c.A666T:p.G222G;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.A666T:p.G222G;	0.514972779604179	0.434
18	19244081	T	C	18	21664120	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon5:c.A666G:p.G222G;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.A666G:p.G222G;	0.0777562805098796	0.174
18	19244081	T	G	18	21664120	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon5:c.A666C:p.G222G;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.A666C:p.G222G;	0.00167558715892072	0.054
18	19244190	G	A	18	21664229	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.C557T:p.T186M;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.C557T:p.T186M;	0.98628329272932	0.838
18	19244190	G	C	18	21664229	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.C557G:p.T186R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.C557G:p.T186R;	0.991220415441134	0.812
18	19244190	G	T	18	21664229	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.C557A:p.T186K;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.C557A:p.T186K;	0.994299424823681	0.872
18	19244191	T	A	18	21664230	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.A556T:p.T186S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.A556T:p.T186S;	0.910713701914282	0.546
18	19244191	T	C	18	21664230	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.A556G:p.T186A;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.A556G:p.T186A;	0.784524592277634	0.674
18	19244191	T	G	18	21664230	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon5:c.A556C:p.T186P;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon5:c.A556C:p.T186P;	0.966990894897062	0.628
18	19244192	C	A	18	21664231	y	y	splicing	ABHD3(NM_138340:exon6:c.556-1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.556-1G>T;ENST00000577891:exon6:c.486-1G>T)	.	.	0.999989125585301	0.944
18	19244192	C	G	18	21664231	y	y	splicing	ABHD3(NM_138340:exon6:c.556-1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.556-1G>C;ENST00000577891:exon6:c.486-1G>C)	.	.	0.999989125585301	0.944
18	19244192	C	T	18	21664231	y	y	splicing	ABHD3(NM_138340:exon6:c.556-1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.556-1G>A;ENST00000577891:exon6:c.486-1G>A)	.	.	0.999989125585301	0.944
18	19244193	T	A	18	21664232	y	y	splicing	ABHD3(NM_138340:exon6:c.556-2A>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.556-2A>T;ENST00000577891:exon6:c.486-2A>T)	.	.	0.999986741007567	0.944
18	19244193	T	C	18	21664232	y	y	splicing	ABHD3(NM_138340:exon6:c.556-2A>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.556-2A>G;ENST00000577891:exon6:c.486-2A>G)	.	.	0.999986741007567	0.944
18	19244193	T	G	18	21664232	y	y	splicing	ABHD3(NM_138340:exon6:c.556-2A>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon6:c.556-2A>C;ENST00000577891:exon6:c.486-2A>C)	.	.	0.999986741007567	0.944
18	19244194	G	A	18	21664233	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.206601318051197	0.334
18	19244194	G	C	18	21664233	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999958054134498	0.982
18	19244194	G	T	18	21664233	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.996223372319509	0.93
18	19244195	G	A	18	21664234	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.43847562069769E-4	0.04
18	19244195	G	C	18	21664234	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.94165727931719E-4	0.13
18	19244195	G	T	18	21664234	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.42831772373186E-4	0.054
18	19244196	A	C	18	21664235	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.962891751287561	0.76
18	19244196	A	G	18	21664235	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00452377267815816	0.148
18	19244196	A	T	18	21664235	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.933002272042987	0.738
18	19244197	A	C	18	21664236	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.943081087942806	0.776
18	19244197	A	G	18	21664236	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.79188338934172E-5	0.028
18	19244197	A	T	18	21664236	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.573911434300807	0.674
18	19244198	G	A	18	21664237	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00157965675501666	0.04
18	19244198	G	C	18	21664237	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999876739058565	0.954
18	19244198	G	T	18	21664237	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.444769118637556	0.456
18	19244199	T	A	18	21664238	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.8846586928339E-4	0.016
18	19244199	T	C	18	21664238	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.36137208746715E-4	0.004
18	19244199	T	G	18	21664238	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.11419222972187E-4	0.004
18	19244200	A	C	18	21664239	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.951305384833955	0.748
18	19244200	A	G	18	21664239	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00812719646590926	0.21
18	19244200	A	T	18	21664239	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.929671675727551	0.654
18	19244201	G	A	18	21664240	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0308203544749073	0.394
18	19244201	G	C	18	21664240	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999977461474229	0.966
18	19244201	G	T	18	21664240	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.197953088290089	0.322
18	19244202	T	A	18	21664241	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00114344053046289	0.422
18	19244202	T	C	18	21664241	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.76562896276446E-4	0.302
18	19244202	T	G	18	21664241	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.40264829400473E-4	0.406
18	19244203	G	A	18	21664242	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0085281610210927	0.218
18	19244203	G	C	18	21664242	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0424076724603004	0.134
18	19244203	G	T	18	21664242	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0430687326421313	0.126
18	19262965	C	A	18	21683004	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	1.7921214257142E-4	0.08
18	19262965	C	G	18	21683004	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	7.55065197404716E-5	0.008
18	19262965	C	T	18	21683004	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	1.34022458172726E-4	0.006
18	19262966	A	C	18	21683005	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	1.58927937202005E-5	0.002
18	19262966	A	G	18	21683005	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	1.58927937202005E-5	0.002
18	19262966	A	T	18	21683005	n	y	intronic	ABHD3	.	.	exonic	ENSG00000158201	unknown	UNKNOWN	1.58927937202005E-5	0.002
18	19262967	C	A	18	21683006	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000584464:exon5:c.335-1G>T)	.	.	3.57076726553018E-5	0.002
18	19262967	C	G	18	21683006	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000584464:exon5:c.335-1G>C)	.	.	4.7749166663215E-5	0.008
18	19262967	C	T	18	21683006	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000584464:exon5:c.335-1G>A)	.	.	3.57076726553018E-5	0.002
18	19262968	T	A	18	21683007	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000584464:exon5:c.335-2A>T)	.	.	3.09395893123295E-5	0.002
18	19262968	T	C	18	21683007	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000584464:exon5:c.335-2A>G)	.	.	6.78684081159298E-5	0.002
18	19262968	T	G	18	21683007	n	y	intronic	ABHD3	.	.	splicing	ENSG00000158201(ENST00000584464:exon5:c.335-2A>C)	.	.	6.78684081159298E-5	0.002
18	19262969	G	A	18	21683008	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.95241758590049E-5	0.014
18	19262969	G	C	18	21683008	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.95241758590049E-5	0.014
18	19262969	G	T	18	21683008	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.95241758590049E-5	0.014
18	19262970	T	A	18	21683009	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.73406751144135E-5	0.008
18	19262970	T	C	18	21683009	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.73406751144135E-5	0.004
18	19262970	T	G	18	21683009	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.73406751144135E-5	0.004
18	19262971	A	C	18	21683010	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.14850402615726E-5	0.006
18	19262971	A	G	18	21683010	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.14850402615726E-5	0.006
18	19262971	A	T	18	21683010	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.59797615271383E-5	0.008
18	19262972	A	C	18	21683011	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.3994564522384E-5	0.05
18	19262972	A	G	18	21683011	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.3994564522384E-5	0.05
18	19262972	A	T	18	21683011	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.3994564522384E-5	0.042
18	19262973	A	C	18	21683012	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.51166692036535E-4	0.008
18	19262973	A	G	18	21683012	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.51166692036535E-4	0.008
18	19262973	A	T	18	21683012	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00102211620560074	0.008
18	19262974	G	A	18	21683013	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.52932449848953E-5	0.016
18	19262974	G	C	18	21683013	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.05670308788612E-5	0.016
18	19262974	G	T	18	21683013	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.05670308788612E-5	0.032
18	19262975	C	A	18	21683014	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.52932449848953E-5	0.012
18	19262975	C	G	18	21683014	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.52932449848953E-5	0.012
18	19262975	C	T	18	21683014	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.52932449848953E-5	0.012
18	19262976	C	A	18	21683015	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.82827935381688E-5	0.014
18	19262976	C	G	18	21683015	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.78205327723092E-5	0.006
18	19262976	C	T	18	21683015	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.82827935381688E-5	0.002
18	19262977	A	C	18	21683016	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.08294114656896E-5	0.01
18	19262977	A	G	18	21683016	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.08294114656896E-5	0.01
18	19262977	A	T	18	21683016	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.08294114656896E-5	0.01
18	19262978	A	C	18	21683017	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00120468912899541	0.01
18	19262978	A	G	18	21683017	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00120468912899541	0.01
18	19262978	A	T	18	21683017	n	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00120468912899541	0.01
18	19263873	T	A	18	21683912	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.72031392874506E-4	0.004
18	19263873	T	C	18	21683912	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	8.23919758832573E-5	0.002
18	19263873	T	G	18	21683912	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.15671981458715E-4	0.004
18	19263874	T	A	18	21683913	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00643253372314542	0.034
18	19263874	T	C	18	21683913	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00534845833961504	0.03
18	19263874	T	G	18	21683913	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0124464443241082	0.05
18	19263875	A	C	18	21683914	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.659055404705257	0.452
18	19263875	A	G	18	21683914	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.795169043037019	0.534
18	19263875	A	T	18	21683914	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.733470184001823	0.576
18	19263876	C	A	18	21683915	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999522970376636	0.894
18	19263876	C	G	18	21683915	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.998461396404877	0.93
18	19263876	C	T	18	21683915	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.996854707391856	0.94
18	19263877	T	A	18	21683916	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.996757138810379	0.75
18	19263877	T	C	18	21683916	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.996114892711109	0.796
18	19263877	T	G	18	21683916	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.943433173215267	0.58
18	19263878	T	A	18	21683917	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.998103512068282	0.894
18	19263878	T	C	18	21683917	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.579982439471214	0.372
18	19263878	T	G	18	21683917	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.998849747704465	0.904
18	19263879	A	C	18	21683918	y	y	splicing	ABHD3(NM_138340:exon5:c.555+2T>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.555+2T>G;ENST00000577891:exon5:c.485+2T>G;ENST00000584464:exon4:c.334+2T>G)	.	.	0.999989917668626	0.926
18	19263879	A	G	18	21683918	y	y	splicing	ABHD3(NM_138340:exon5:c.555+2T>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.555+2T>C;ENST00000577891:exon5:c.485+2T>C;ENST00000584464:exon4:c.334+2T>C)	.	.	0.990945634311904	0.614
18	19263879	A	T	18	21683918	y	y	splicing	ABHD3(NM_138340:exon5:c.555+2T>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.555+2T>A;ENST00000577891:exon5:c.485+2T>A;ENST00000584464:exon4:c.334+2T>A)	.	.	0.999989917668626	0.926
18	19263880	C	A	18	21683919	y	y	splicing	ABHD3(NM_138340:exon5:c.555+1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.555+1G>T;ENST00000577891:exon5:c.485+1G>T;ENST00000584464:exon4:c.334+1G>T)	.	.	0.999986675681007	0.934
18	19263880	C	G	18	21683919	y	y	splicing	ABHD3(NM_138340:exon5:c.555+1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.555+1G>C;ENST00000577891:exon5:c.485+1G>C;ENST00000584464:exon4:c.334+1G>C)	.	.	0.999986675681007	0.93
18	19263880	C	T	18	21683919	y	y	splicing	ABHD3(NM_138340:exon5:c.555+1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.555+1G>A;ENST00000577891:exon5:c.485+1G>A;ENST00000584464:exon4:c.334+1G>A)	.	.	0.999986675681007	0.934
18	19263881	C	A	18	21683920	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.G555T:p.L185F;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.G555T:p.L185F;	0.999826320119606	0.876
18	19263881	C	G	18	21683920	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.G555C:p.L185F;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.G555C:p.L185F;	0.999959589353313	0.99
18	19263881	C	T	18	21683920	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon4:c.G555A:p.L185L;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.G555A:p.L185L;	0.997152934791706	0.92
18	19263882	A	C	18	21683921	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.T554G:p.L185W;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.T554G:p.L185W;	0.935341475674307	0.816
18	19263882	A	G	18	21683921	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.T554C:p.L185S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.T554C:p.L185S;	0.639669431716506	0.74
18	19263882	A	T	18	21683921	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon4:c.T554A:p.L185X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon4:c.T554A:p.L185X;	0.63118656250276	0.658
18	19263883	A	C	18	21683922	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.T553G:p.L185V;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.T553G:p.L185V;	5.78529003955068E-4	0.09
18	19263883	A	G	18	21683922	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon4:c.T553C:p.L185L;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.T553C:p.L185L;	9.0991808085554E-5	0.0
18	19263883	A	T	18	21683922	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.T553A:p.L185M;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.T553A:p.L185M;	1.61820674657044E-4	0.118
18	19263925	A	C	18	21683964	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.T511G:p.C171G;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.T511G:p.C171G;	0.0128364630261329	0.13
18	19263925	A	G	18	21683964	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.T511C:p.C171R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.T511C:p.C171R;	0.205515721022023	0.444
18	19263925	A	T	18	21683964	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.T511A:p.C171S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.T511A:p.C171S;	0.069459230086501	0.282
18	19263926	T	A	18	21683965	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.A510T:p.R170S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.A510T:p.R170S;	1.99347932826469E-4	0.146
18	19263926	T	C	18	21683965	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon4:c.A510G:p.R170R;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.A510G:p.R170R;	1.14165350053214E-4	0.006
18	19263926	T	G	18	21683965	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon4:c.A510C:p.R170S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon4:c.A510C:p.R170S;	1.12806078722298E-4	0.158
18	19263927	C	A	18	21683966	y	y	splicing	ABHD3(NM_138340:exon5:c.510-1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.510-1G>T;ENST00000577891:exon5:c.440-1G>T;ENST00000584464:exon4:c.289-1G>T)	.	.	0.999986675681007	0.936
18	19263927	C	G	18	21683966	y	y	splicing	ABHD3(NM_138340:exon5:c.510-1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.510-1G>C;ENST00000577891:exon5:c.440-1G>C;ENST00000584464:exon4:c.289-1G>C)	.	.	0.999986675681007	0.936
18	19263927	C	T	18	21683966	y	y	splicing	ABHD3(NM_138340:exon5:c.510-1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.510-1G>A;ENST00000577891:exon5:c.440-1G>A;ENST00000584464:exon4:c.289-1G>A)	.	.	0.999986675681007	0.924
18	19263928	T	A	18	21683967	y	y	splicing	ABHD3(NM_138340:exon5:c.510-2A>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.510-2A>T;ENST00000577891:exon5:c.440-2A>T;ENST00000584464:exon4:c.289-2A>T)	.	.	0.999989917668626	0.926
18	19263928	T	C	18	21683967	y	y	splicing	ABHD3(NM_138340:exon5:c.510-2A>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.510-2A>G;ENST00000577891:exon5:c.440-2A>G;ENST00000584464:exon4:c.289-2A>G)	.	.	0.999989917668626	0.926
18	19263928	T	G	18	21683967	y	y	splicing	ABHD3(NM_138340:exon5:c.510-2A>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon5:c.510-2A>C;ENST00000577891:exon5:c.440-2A>C;ENST00000584464:exon4:c.289-2A>C)	.	.	0.999989917668626	0.926
18	19263929	A	C	18	21683968	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.99201871452393	0.714
18	19263929	A	G	18	21683968	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.95512140530842E-5	0.002
18	19263929	A	T	18	21683968	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0617245250481141	0.274
18	19263930	A	C	18	21683969	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0221294876513443	0.168
18	19263930	A	G	18	21683969	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00489189771526147	0.024
18	19263930	A	T	18	21683969	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0409660204624326	0.164
18	19263931	A	C	18	21683970	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.994747420969702	0.892
18	19263931	A	G	18	21683970	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0496119764485514	0.148
18	19263931	A	T	18	21683970	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.997116083687563	0.91
18	19263932	A	C	18	21683971	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.967604094179138	0.722
18	19263932	A	G	18	21683971	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00617020818585392	0.086
18	19263932	A	T	18	21683971	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.987814394316958	0.736
18	19263933	A	C	18	21683972	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.304551602706642	0.372
18	19263933	A	G	18	21683972	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00344592393988499	0.038
18	19263933	A	T	18	21683972	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.571060937633248	0.478
18	19263934	C	A	18	21683973	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.04779542932676E-5	0.006
18	19263934	C	G	18	21683973	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.16049301395967E-5	0.004
18	19263934	C	T	18	21683973	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.69732984135831E-4	0.01
18	19263935	C	A	18	21683974	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00627676886396816	0.336
18	19263935	C	G	18	21683974	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00886501527207902	0.324
18	19263935	C	T	18	21683974	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.998210155195557	0.924
18	19263936	A	C	18	21683975	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.98042330339781	0.802
18	19263936	A	G	18	21683975	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0996741842985802	0.41
18	19263936	A	T	18	21683975	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999984291668692	0.962
18	19263937	G	A	18	21683976	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.43230764346261E-4	0.158
18	19263937	G	C	18	21683976	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.17992600874342E-5	0.058
18	19263937	G	T	18	21683976	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.07070070111213E-4	0.07
18	19263938	G	A	18	21683977	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.34766719474805E-5	0.048
18	19263938	G	C	18	21683977	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.06299706972127E-5	0.05
18	19263938	G	T	18	21683977	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.76209247586767E-5	0.174
18	19282269	A	C	18	21702308	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.91848111353002E-5	0.004
18	19282269	A	G	18	21702308	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.91848111353002E-5	0.004
18	19282269	A	T	18	21702308	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.76524220053843E-5	0.002
18	19282270	C	A	18	21702309	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.58028266785789E-4	0.0
18	19282270	C	G	18	21702309	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.58028266785789E-4	0.006
18	19282270	C	T	18	21702309	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.42942930964749E-4	0.0
18	19282271	T	A	18	21702310	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.29655992021564E-5	0.028
18	19282271	T	C	18	21702310	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.06142610288348E-4	0.022
18	19282271	T	G	18	21702310	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.11360024615344E-4	0.084
18	19282272	G	A	18	21702311	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.50410737774654E-4	0.004
18	19282272	G	C	18	21702311	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.90146687988161E-5	0.058
18	19282272	G	T	18	21702311	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.12340220617119E-4	0.034
18	19282273	G	A	18	21702312	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.43193272999019E-4	0.098
18	19282273	G	C	18	21702312	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00109092860151035	0.096
18	19282273	G	T	18	21702312	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.931266491383E-4	0.034
18	19282274	T	A	18	21702313	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999978120151111	0.992
18	19282274	T	C	18	21702313	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.996044981698788	0.95
18	19282274	T	G	18	21702313	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999950305587478	0.972
18	19282275	A	C	18	21702314	y	y	splicing	ABHD3(NM_138340:exon4:c.509+2T>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.509+2T>G;ENST00000580981:exon4:c.509+2T>G;ENST00000577891:exon4:c.439+2T>G;ENST00000584464:exon3:c.288+2T>G)	.	.	0.999988247793601	0.928
18	19282275	A	G	18	21702314	y	y	splicing	ABHD3(NM_138340:exon4:c.509+2T>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.509+2T>C;ENST00000580981:exon4:c.509+2T>C;ENST00000577891:exon4:c.439+2T>C;ENST00000584464:exon3:c.288+2T>C)	.	.	0.99340600729494	0.658
18	19282275	A	T	18	21702314	y	y	splicing	ABHD3(NM_138340:exon4:c.509+2T>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.509+2T>A;ENST00000580981:exon4:c.509+2T>A;ENST00000577891:exon4:c.439+2T>A;ENST00000584464:exon3:c.288+2T>A)	.	.	0.999988247793601	0.928
18	19282276	C	A	18	21702315	y	y	splicing	ABHD3(NM_138340:exon4:c.509+1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.509+1G>T;ENST00000580981:exon4:c.509+1G>T;ENST00000577891:exon4:c.439+1G>T;ENST00000584464:exon3:c.288+1G>T)	.	.	0.999976206550861	0.912
18	19282276	C	G	18	21702315	y	y	splicing	ABHD3(NM_138340:exon4:c.509+1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.509+1G>C;ENST00000580981:exon4:c.509+1G>C;ENST00000577891:exon4:c.439+1G>C;ENST00000584464:exon3:c.288+1G>C)	.	.	0.999976206550861	0.912
18	19282276	C	T	18	21702315	y	y	splicing	ABHD3(NM_138340:exon4:c.509+1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.509+1G>A;ENST00000580981:exon4:c.509+1G>A;ENST00000577891:exon4:c.439+1G>A;ENST00000584464:exon3:c.288+1G>A)	.	.	0.999976206550861	0.912
18	19282277	C	A	18	21702316	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon3:c.G509T:p.R170I;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon3:c.G509T:p.R170I;ENSG00000158201:ENST00000580981:exon3:c.G509T:p.R170I;	0.999992895158708	0.994
18	19282277	C	G	18	21702316	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon3:c.G509C:p.R170T;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon3:c.G509C:p.R170T;ENSG00000158201:ENST00000580981:exon3:c.G509C:p.R170T;	0.999995450913185	0.988
18	19282277	C	T	18	21702316	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon3:c.G509A:p.R170K;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon3:c.G509A:p.R170K;ENSG00000158201:ENST00000580981:exon3:c.G509A:p.R170K;	0.999992235208938	0.998
18	19282278	T	A	18	21702317	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon3:c.A508T:p.R170X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon3:c.A508T:p.R170X;ENSG00000158201:ENST00000580981:exon3:c.A508T:p.R170X;	0.999966312828594	0.99
18	19282278	T	C	18	21702317	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon3:c.A508G:p.R170G;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon3:c.A508G:p.R170G;ENSG00000158201:ENST00000580981:exon3:c.A508G:p.R170G;	0.999142534331413	0.992
18	19282278	T	G	18	21702317	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon3:c.A508C:p.R170R;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon3:c.A508C:p.R170R;ENSG00000158201:ENST00000580981:exon3:c.A508C:p.R170R;	0.99970786625629	0.992
18	19282279	G	A	18	21702318	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon3:c.C507T:p.Y169Y;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000289119:exon3:c.C507T:p.Y169Y;ENSG00000158201:ENST00000580981:exon3:c.C507T:p.Y169Y;	0.999398086594502	0.986
18	19282279	G	C	18	21702318	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon3:c.C507G:p.Y169X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon3:c.C507G:p.Y169X;ENSG00000158201:ENST00000580981:exon3:c.C507G:p.Y169X;	0.894773213076143	0.752
18	19282279	G	T	18	21702318	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon3:c.C507A:p.Y169X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon3:c.C507A:p.Y169X;ENSG00000158201:ENST00000580981:exon3:c.C507A:p.Y169X;	0.936918788483517	0.836
18	19282458	C	A	18	21702497	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon3:c.G328T:p.E110X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon3:c.G328T:p.E110X;ENSG00000158201:ENST00000580981:exon3:c.G328T:p.E110X;	0.982979585512687	0.882
18	19282458	C	G	18	21702497	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon3:c.G328C:p.E110Q;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon3:c.G258C:p.M86I;ENSG00000158201:ENST00000289119:exon3:c.G328C:p.E110Q;ENSG00000158201:ENST00000580981:exon3:c.G328C:p.E110Q;	0.982708441982204	0.706
18	19282458	C	T	18	21702497	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon3:c.G328A:p.E110K;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon3:c.G258A:p.M86I;ENSG00000158201:ENST00000289119:exon3:c.G328A:p.E110K;ENSG00000158201:ENST00000580981:exon3:c.G328A:p.E110K;	0.987195046781967	0.67
18	19282459	A	C	18	21702498	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon3:c.T327G:p.N109K;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon3:c.T257G:p.M86R;ENSG00000158201:ENST00000289119:exon3:c.T327G:p.N109K;ENSG00000158201:ENST00000580981:exon3:c.T327G:p.N109K;	8.44547411644908E-4	0.214
18	19282459	A	G	18	21702498	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon3:c.T327C:p.N109N;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon3:c.T257C:p.M86T;	3.87092293204371E-5	0.012
18	19282459	A	T	18	21702498	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon3:c.T327A:p.N109K;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon3:c.T257A:p.M86K;ENSG00000158201:ENST00000289119:exon3:c.T327A:p.N109K;ENSG00000158201:ENST00000580981:exon3:c.T327A:p.N109K;	1.23479742686075E-4	0.01
18	19282460	C	A	18	21702499	y	y	splicing	ABHD3(NM_138340:exon4:c.327-1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.327-1G>T;ENST00000580981:exon4:c.327-1G>T;ENST00000577891:exon4:c.257-1G>T;ENST00000584464:exon3:c.106-1G>T)	.	.	0.999985532734767	0.95
18	19282460	C	G	18	21702499	y	y	splicing	ABHD3(NM_138340:exon4:c.327-1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.327-1G>C;ENST00000580981:exon4:c.327-1G>C;ENST00000577891:exon4:c.257-1G>C;ENST00000584464:exon3:c.106-1G>C)	.	.	0.999985532734767	0.95
18	19282460	C	T	18	21702499	y	y	splicing	ABHD3(NM_138340:exon4:c.327-1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.327-1G>A;ENST00000580981:exon4:c.327-1G>A;ENST00000577891:exon4:c.257-1G>A;ENST00000584464:exon3:c.106-1G>A)	.	.	0.999985532734767	0.95
18	19282461	T	A	18	21702500	y	y	splicing	ABHD3(NM_138340:exon4:c.327-2A>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.327-2A>T;ENST00000580981:exon4:c.327-2A>T;ENST00000577891:exon4:c.257-2A>T;ENST00000584464:exon3:c.106-2A>T)	.	.	0.999988247793601	0.952
18	19282461	T	C	18	21702500	y	y	splicing	ABHD3(NM_138340:exon4:c.327-2A>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.327-2A>G;ENST00000580981:exon4:c.327-2A>G;ENST00000577891:exon4:c.257-2A>G;ENST00000584464:exon3:c.106-2A>G)	.	.	0.999988247793601	0.952
18	19282461	T	G	18	21702500	y	y	splicing	ABHD3(NM_138340:exon4:c.327-2A>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon4:c.327-2A>C;ENST00000580981:exon4:c.327-2A>C;ENST00000577891:exon4:c.257-2A>C;ENST00000584464:exon3:c.106-2A>C)	.	.	0.999988247793601	0.952
18	19282462	G	A	18	21702501	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00300997482183789	0.044
18	19282462	G	C	18	21702501	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999829925636724	0.952
18	19282462	G	T	18	21702501	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.974759348316508	0.674
18	19282463	A	C	18	21702502	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00684703308226043	0.096
18	19282463	A	G	18	21702502	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00184832558160048	0.138
18	19282463	A	T	18	21702502	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	7.97906185942264E-4	0.048
18	19282464	A	C	18	21702503	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.997719045685402	0.878
18	19282464	A	G	18	21702503	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.120349187327345	0.184
18	19282464	A	T	18	21702503	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.995135017623711	0.87
18	19282465	A	C	18	21702504	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.992503750284959	0.826
18	19282465	A	G	18	21702504	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	2.43100689298958E-4	0.01
18	19282465	A	T	18	21702504	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.898161266756791	0.782
18	19282466	G	A	18	21702505	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.02642791261467E-5	0.004
18	19282466	G	C	18	21702505	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00163983094146865	0.036
18	19282466	G	T	18	21702505	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.24062565531407E-4	0.06
18	19282467	G	A	18	21702506	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.60954091113061E-5	0.0
18	19282467	G	C	18	21702506	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.75217389429829E-4	0.022
18	19282467	G	T	18	21702506	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.37190210981815E-4	0.022
18	19282468	A	C	18	21702507	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.949989355004304	0.758
18	19282468	A	G	18	21702507	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.011467098909346	0.108
18	19282468	A	T	18	21702507	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.950665940565203	0.776
18	19282469	A	C	18	21702508	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999983054329437	0.98
18	19282469	A	G	18	21702508	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0069027739569406	0.128
18	19282469	A	T	18	21702508	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.9895115221269	0.784
18	19282470	T	A	18	21702509	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.92161935635E-4	0.076
18	19282470	T	C	18	21702509	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.43560696318228E-5	0.018
18	19282470	T	G	18	21702509	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.70231327919105E-5	0.056
18	19282471	A	C	18	21702510	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.998306713393507	0.866
18	19282471	A	G	18	21702510	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.261349685659184	0.4
18	19282471	A	T	18	21702510	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.997991131521642	0.9
18	19283537	T	A	18	21703576	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.31090541603857E-5	0.002
18	19283537	T	C	18	21703576	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.2709332397549E-4	0.004
18	19283537	T	G	18	21703576	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.31090541603857E-5	0.002
18	19283538	C	A	18	21703577	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.16682635439002E-5	0.002
18	19283538	C	G	18	21703577	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.87873640366791E-5	0.0
18	19283538	C	T	18	21703577	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	5.21631586729891E-5	0.0
18	19283539	A	C	18	21703578	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.459110635316565	0.48
18	19283539	A	G	18	21703578	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.351173091268733	0.44
18	19283539	A	T	18	21703578	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.801391318947596	0.52
18	19283540	C	A	18	21703579	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999856405194031	0.886
18	19283540	C	G	18	21703579	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999562864781376	0.88
18	19283540	C	T	18	21703579	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.998428189795311	0.942
18	19283541	T	A	18	21703580	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.968940755261016	0.632
18	19283541	T	C	18	21703580	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.967150118273519	0.706
18	19283541	T	G	18	21703580	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.951419029176909	0.568
18	19283542	T	A	18	21703581	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.998880201080052	0.85
18	19283542	T	C	18	21703581	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.212687368581403	0.238
18	19283542	T	G	18	21703581	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999518119373111	0.874
18	19283543	A	C	18	21703582	y	y	splicing	ABHD3(NM_138340:exon3:c.326+2T>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.326+2T>G;ENST00000580981:exon3:c.326+2T>G;ENST00000577891:exon3:c.256+2T>G;ENST00000584464:exon2:c.105+2T>G)	.	.	0.999978791067592	0.93
18	19283543	A	G	18	21703582	y	y	splicing	ABHD3(NM_138340:exon3:c.326+2T>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.326+2T>C;ENST00000580981:exon3:c.326+2T>C;ENST00000577891:exon3:c.256+2T>C;ENST00000584464:exon2:c.105+2T>C)	.	.	0.981601529746901	0.602
18	19283543	A	T	18	21703582	y	y	splicing	ABHD3(NM_138340:exon3:c.326+2T>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.326+2T>A;ENST00000580981:exon3:c.326+2T>A;ENST00000577891:exon3:c.256+2T>A;ENST00000584464:exon2:c.105+2T>A)	.	.	0.999978791067592	0.926
18	19283544	C	A	18	21703583	y	y	splicing	ABHD3(NM_138340:exon3:c.326+1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.326+1G>T;ENST00000580981:exon3:c.326+1G>T;ENST00000577891:exon3:c.256+1G>T;ENST00000584464:exon2:c.105+1G>T)	.	.	0.99994568797423	0.926
18	19283544	C	G	18	21703583	y	y	splicing	ABHD3(NM_138340:exon3:c.326+1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.326+1G>C;ENST00000580981:exon3:c.326+1G>C;ENST00000577891:exon3:c.256+1G>C;ENST00000584464:exon2:c.105+1G>C)	.	.	0.99994568797423	0.928
18	19283544	C	T	18	21703583	y	y	splicing	ABHD3(NM_138340:exon3:c.326+1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.326+1G>A;ENST00000580981:exon3:c.326+1G>A;ENST00000577891:exon3:c.256+1G>A;ENST00000584464:exon2:c.105+1G>A)	.	.	0.999978952611685	0.926
18	19283545	T	A	18	21703584	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A326T:p.N109I;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon2:c.A256T:p.M86L;ENSG00000158201:ENST00000289119:exon2:c.A326T:p.N109I;ENSG00000158201:ENST00000580981:exon2:c.A326T:p.N109I;	0.013652313884586	0.206
18	19283545	T	C	18	21703584	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A326G:p.N109S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon2:c.A256G:p.M86V;ENSG00000158201:ENST00000289119:exon2:c.A326G:p.N109S;ENSG00000158201:ENST00000580981:exon2:c.A326G:p.N109S;	0.00407042671983563	0.072
18	19283545	T	G	18	21703584	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A326C:p.N109T;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon2:c.A256C:p.M86L;ENSG00000158201:ENST00000289119:exon2:c.A326C:p.N109T;ENSG00000158201:ENST00000580981:exon2:c.A326C:p.N109T;	0.00943983068876155	0.142
18	19283546	T	A	18	21703585	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A325T:p.N109Y;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon2:c.A325T:p.N109Y;ENSG00000158201:ENST00000580981:exon2:c.A325T:p.N109Y;	0.991340067096899	0.854
18	19283546	T	C	18	21703585	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A325G:p.N109D;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon2:c.A325G:p.N109D;ENSG00000158201:ENST00000580981:exon2:c.A325G:p.N109D;	0.990912003364382	0.872
18	19283546	T	G	18	21703585	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A325C:p.N109H;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon2:c.A325C:p.N109H;ENSG00000158201:ENST00000580981:exon2:c.A325C:p.N109H;	0.917757095569703	0.802
18	19283547	C	A	18	21703586	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.G324T:p.R108S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon2:c.G254T:p.G85V;ENSG00000158201:ENST00000289119:exon2:c.G324T:p.R108S;ENSG00000158201:ENST00000580981:exon2:c.G324T:p.R108S;	0.0135137498716135	0.262
18	19283547	C	G	18	21703586	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.G324C:p.R108S;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon2:c.G254C:p.G85A;ENSG00000158201:ENST00000289119:exon2:c.G324C:p.R108S;ENSG00000158201:ENST00000580981:exon2:c.G324C:p.R108S;	0.00121768250578163	0.01
18	19283547	C	T	18	21703586	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon2:c.G324A:p.R108R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon2:c.G254A:p.G85E;	0.00121768250578163	0.014
18	19283707	T	A	18	21703746	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A164T:p.K55I;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon2:c.A164T:p.K55I;ENSG00000158201:ENST00000580981:exon2:c.A164T:p.K55I;	0.0173771600169402	0.342
18	19283707	T	C	18	21703746	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A164G:p.K55R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon2:c.A164G:p.K55R;ENSG00000158201:ENST00000580981:exon2:c.A164G:p.K55R;	0.0137434130193956	0.232
18	19283707	T	G	18	21703746	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A164C:p.K55T;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon2:c.A164C:p.K55T;ENSG00000158201:ENST00000580981:exon2:c.A164C:p.K55T;	0.0126013110364163	0.206
18	19283708	T	A	18	21703747	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon2:c.A163T:p.K55X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000289119:exon2:c.A163T:p.K55X;ENSG00000158201:ENST00000580981:exon2:c.A163T:p.K55X;	0.226184395907839	0.57
18	19283708	T	C	18	21703747	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A163G:p.K55E;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon2:c.A163G:p.K55E;ENSG00000158201:ENST00000580981:exon2:c.A163G:p.K55E;	0.00665988505856693	0.268
18	19283708	T	G	18	21703747	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon2:c.A163C:p.K55Q;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000289119:exon2:c.A163C:p.K55Q;ENSG00000158201:ENST00000580981:exon2:c.A163C:p.K55Q;	0.0128099364401084	0.28
18	19283709	C	A	18	21703748	y	y	splicing	ABHD3(NM_138340:exon3:c.163-1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.163-1G>T;ENST00000580981:exon3:c.163-1G>T)	.	.	0.999986675681007	0.932
18	19283709	C	G	18	21703748	y	y	splicing	ABHD3(NM_138340:exon3:c.163-1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.163-1G>C;ENST00000580981:exon3:c.163-1G>C)	.	.	0.999986675681007	0.932
18	19283709	C	T	18	21703748	y	y	splicing	ABHD3(NM_138340:exon3:c.163-1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.163-1G>A;ENST00000580981:exon3:c.163-1G>A)	.	.	0.999986675681007	0.932
18	19283710	T	A	18	21703749	y	y	splicing	ABHD3(NM_138340:exon3:c.163-2A>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.163-2A>T;ENST00000580981:exon3:c.163-2A>T)	.	.	0.999990155693597	0.924
18	19283710	T	C	18	21703749	y	y	splicing	ABHD3(NM_138340:exon3:c.163-2A>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.163-2A>G;ENST00000580981:exon3:c.163-2A>G)	.	.	0.999987212236324	0.926
18	19283710	T	G	18	21703749	y	y	splicing	ABHD3(NM_138340:exon3:c.163-2A>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon3:c.163-2A>C;ENST00000580981:exon3:c.163-2A>C)	.	.	0.999987212236324	0.926
18	19283711	G	A	18	21703750	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.0103421605423312	0.056
18	19283711	G	C	18	21703750	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.999683144071241	0.96
18	19283711	G	T	18	21703750	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.994309852209065	0.66
18	19283712	A	C	18	21703751	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	4.38649817202039E-5	0.0
18	19283712	A	G	18	21703751	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	3.7167368363347E-5	0.0
18	19283712	A	T	18	21703751	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	1.35078944762435E-4	0.004
18	19283713	A	C	18	21703752	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.035819735511653	0.342
18	19283713	A	G	18	21703752	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	1.78434899605817E-4	0.026
18	19283713	A	T	18	21703752	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.0155116100404666	0.302
18	19283714	G	A	18	21703753	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.00236912547545472	0.03
18	19283714	G	C	18	21703753	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.0165226351920032	0.264
18	19283714	G	T	18	21703753	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.039669042896728	0.316
18	19283715	G	A	18	21703754	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	7.98320264527121E-5	0.004
18	19283715	G	C	18	21703754	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.00212709362727243	0.146
18	19283715	G	T	18	21703754	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.00424293042729234	0.108
18	19283716	G	A	18	21703755	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	3.03909842193944E-5	0.012
18	19283716	G	C	18	21703755	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	3.08207654901268E-4	0.018
18	19283716	G	T	18	21703755	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	2.27377356577281E-4	0.018
18	19283717	A	C	18	21703756	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.00450305680288914	0.09
18	19283717	A	G	18	21703756	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	8.04551146897051E-5	0.008
18	19283717	A	T	18	21703756	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.00273042104114039	0.076
18	19283718	A	C	18	21703757	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.00110504440096311	0.17
18	19283718	A	G	18	21703757	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	6.03213915743632E-5	0.004
18	19283718	A	T	18	21703757	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.00323832628054041	0.128
18	19283719	A	C	18	21703758	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.159389802945658	0.448
18	19283719	A	G	18	21703758	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.0302430424276462	0.13
18	19283719	A	T	18	21703758	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	0.278454132634887	0.554
18	19283720	A	C	18	21703759	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	3.89681722476727E-4	0.078
18	19283720	A	G	18	21703759	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	3.88480785148907E-5	0.012
18	19283720	A	T	18	21703759	y	y	intronic	ABHD3	.	.	UTR5	ENSG00000158201	.	.	9.0042693799082E-4	0.11
18	19284457	C	A	18	21704496	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	6.77946598378408E-4	0.014
18	19284457	C	G	18	21704496	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00162479722823011	0.012
18	19284457	C	T	18	21704496	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00146990036617883	0.024
18	19284458	G	A	18	21704497	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	4.23201391586967E-4	0.012
18	19284458	G	C	18	21704497	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	3.92428497421039E-4	0.024
18	19284458	G	T	18	21704497	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00134529572899498	0.014
18	19284459	G	A	18	21704498	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	1.3526273184027E-4	0.0
18	19284459	G	C	18	21704498	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	9.13006309575634E-4	0.04
18	19284459	G	T	18	21704498	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.00133908572085312	0.04
18	19284460	C	A	18	21704499	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.99904864585506	0.906
18	19284460	C	G	18	21704499	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.996731519275352	0.862
18	19284460	C	T	18	21704499	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.999172428588743	0.956
18	19284461	T	A	18	21704500	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.985877635961189	0.518
18	19284461	T	C	18	21704500	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.986284190929364	0.538
18	19284461	T	G	18	21704500	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.942121543114108	0.422
18	19284462	C	A	18	21704501	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.994471619836641	0.784
18	19284462	C	G	18	21704501	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.99442501326486	0.902
18	19284462	C	T	18	21704501	y	y	intronic	ABHD3	.	.	intronic	ENSG00000158201	.	.	0.0357832206652548	0.298
18	19284463	A	C	18	21704502	y	y	splicing	ABHD3(NM_138340:exon2:c.162+2T>G)	.	.	splicing	ENSG00000158201(ENST00000289119:exon2:c.162+2T>G;ENST00000580981:exon2:c.162+2T>G;ENST00000577891:exon2:c.162+2T>G)	.	.	0.999984894634896	0.866
18	19284463	A	G	18	21704502	y	y	splicing	ABHD3(NM_138340:exon2:c.162+2T>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon2:c.162+2T>C;ENST00000580981:exon2:c.162+2T>C;ENST00000577891:exon2:c.162+2T>C)	.	.	0.999965438592826	0.856
18	19284463	A	T	18	21704502	y	y	splicing	ABHD3(NM_138340:exon2:c.162+2T>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon2:c.162+2T>A;ENST00000580981:exon2:c.162+2T>A;ENST00000577891:exon2:c.162+2T>A)	.	.	0.999984894634896	0.866
18	19284464	C	A	18	21704503	y	y	splicing	ABHD3(NM_138340:exon2:c.162+1G>T)	.	.	splicing	ENSG00000158201(ENST00000289119:exon2:c.162+1G>T;ENST00000580981:exon2:c.162+1G>T;ENST00000577891:exon2:c.162+1G>T)	.	.	0.999989917668626	0.928
18	19284464	C	G	18	21704503	y	y	splicing	ABHD3(NM_138340:exon2:c.162+1G>C)	.	.	splicing	ENSG00000158201(ENST00000289119:exon2:c.162+1G>C;ENST00000580981:exon2:c.162+1G>C;ENST00000577891:exon2:c.162+1G>C)	.	.	0.999989917668626	0.928
18	19284464	C	T	18	21704503	y	y	splicing	ABHD3(NM_138340:exon2:c.162+1G>A)	.	.	splicing	ENSG00000158201(ENST00000289119:exon2:c.162+1G>A;ENST00000580981:exon2:c.162+1G>A;ENST00000577891:exon2:c.162+1G>A)	.	.	0.999989917668626	0.928
18	19284465	C	A	18	21704504	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon1:c.G162T:p.K54N;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon1:c.G162T:p.K54N;ENSG00000158201:ENST00000289119:exon1:c.G162T:p.K54N;ENSG00000158201:ENST00000580981:exon1:c.G162T:p.K54N;	0.999957313456359	0.97
18	19284465	C	G	18	21704504	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon1:c.G162C:p.K54N;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon1:c.G162C:p.K54N;ENSG00000158201:ENST00000289119:exon1:c.G162C:p.K54N;ENSG00000158201:ENST00000580981:exon1:c.G162C:p.K54N;	0.999986814351484	0.978
18	19284465	C	T	18	21704504	y	y	exonic	ABHD3	synonymous SNV	ABHD3:NM_138340:exon1:c.G162A:p.K54K;	exonic	ENSG00000158201	synonymous SNV	ENSG00000158201:ENST00000577891:exon1:c.G162A:p.K54K;ENSG00000158201:ENST00000289119:exon1:c.G162A:p.K54K;ENSG00000158201:ENST00000580981:exon1:c.G162A:p.K54K;	0.999859702424152	0.96
18	19284466	T	A	18	21704505	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon1:c.A161T:p.K54M;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon1:c.A161T:p.K54M;ENSG00000158201:ENST00000289119:exon1:c.A161T:p.K54M;ENSG00000158201:ENST00000580981:exon1:c.A161T:p.K54M;	0.993033433092922	0.882
18	19284466	T	C	18	21704505	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon1:c.A161G:p.K54R;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon1:c.A161G:p.K54R;ENSG00000158201:ENST00000289119:exon1:c.A161G:p.K54R;ENSG00000158201:ENST00000580981:exon1:c.A161G:p.K54R;	0.992264972194715	0.92
18	19284466	T	G	18	21704505	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon1:c.A161C:p.K54T;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon1:c.A161C:p.K54T;ENSG00000158201:ENST00000289119:exon1:c.A161C:p.K54T;ENSG00000158201:ENST00000580981:exon1:c.A161C:p.K54T;	0.982434605894669	0.914
18	19284467	T	A	18	21704506	y	y	exonic	ABHD3	stopgain SNV	ABHD3:NM_138340:exon1:c.A160T:p.K54X;	exonic	ENSG00000158201	stopgain SNV	ENSG00000158201:ENST00000577891:exon1:c.A160T:p.K54X;ENSG00000158201:ENST00000289119:exon1:c.A160T:p.K54X;ENSG00000158201:ENST00000580981:exon1:c.A160T:p.K54X;	0.800932537501951	0.616
18	19284467	T	C	18	21704506	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon1:c.A160G:p.K54E;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon1:c.A160G:p.K54E;ENSG00000158201:ENST00000289119:exon1:c.A160G:p.K54E;ENSG00000158201:ENST00000580981:exon1:c.A160G:p.K54E;	0.0556329338347933	0.37
18	19284467	T	G	18	21704506	y	y	exonic	ABHD3	nonsynonymous SNV	ABHD3:NM_138340:exon1:c.A160C:p.K54Q;	exonic	ENSG00000158201	nonsynonymous SNV	ENSG00000158201:ENST00000577891:exon1:c.A160C:p.K54Q;ENSG00000158201:ENST00000289119:exon1:c.A160C:p.K54Q;ENSG00000158201:ENST00000580981:exon1:c.A160C:p.K54Q;	0.431089135621947	0.55
18	19321771	C	A	18	21741810	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon1:c.C227A:p.T76N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.C227A:p.T76N;	0.0063763148552673	0.2
18	19321771	C	G	18	21741810	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon1:c.C227G:p.T76S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.C227G:p.T76S;	6.20972718104168E-4	0.038
18	19321771	C	T	18	21741810	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon1:c.C227T:p.T76I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.C227T:p.T76I;	0.00157154149027135	0.09
18	19321772	C	A	18	21741811	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon1:c.C228A:p.T76T;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.C228A:p.T76T;	1.99740385783855E-4	0.174
18	19321772	C	G	18	21741811	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon1:c.C228G:p.T76T;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.C228G:p.T76T;	8.93795278818674E-5	0.01
18	19321772	C	T	18	21741811	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon1:c.C228T:p.T76T;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.C228T:p.T76T;	1.36917705374651E-4	0.03
18	19321773	G	A	18	21741812	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon1:c.G229A:p.G77S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.G229A:p.G77S;	0.999926587475947	0.986
18	19321773	G	C	18	21741812	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon1:c.G229C:p.G77R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.G229C:p.G77R;	0.999965114163908	0.99
18	19321773	G	T	18	21741812	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon1:c.G229T:p.G77C;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon1:c.G229T:p.G77C;	0.999955569302297	0.992
18	19321774	G	A	18	21741813	y	y	splicing	MIB1(NM_020774:exon1:c.229+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon1:c.229+1G>A)	.	.	0.999993672935256	0.93
18	19321774	G	C	18	21741813	y	y	splicing	MIB1(NM_020774:exon1:c.229+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon1:c.229+1G>C)	.	.	0.999993672935256	0.93
18	19321774	G	T	18	21741813	y	y	splicing	MIB1(NM_020774:exon1:c.229+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon1:c.229+1G>T)	.	.	0.999993672935256	0.93
18	19321775	T	A	18	21741814	y	y	splicing	MIB1(NM_020774:exon1:c.229+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon1:c.229+2T>A)	.	.	0.999984894634896	0.888
18	19321775	T	C	18	21741814	y	y	splicing	MIB1(NM_020774:exon1:c.229+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon1:c.229+2T>C)	.	.	0.999820289017551	0.832
18	19321775	T	G	18	21741814	y	y	splicing	MIB1(NM_020774:exon1:c.229+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon1:c.229+2T>G)	.	.	0.999984894634896	0.894
18	19321776	A	C	18	21741815	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997798211905991	0.876
18	19321776	A	G	18	21741815	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.204726173453951	0.218
18	19321776	A	T	18	21741815	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998985263114046	0.874
18	19321777	A	C	18	21741816	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.959345897379029	0.812
18	19321777	A	G	18	21741816	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.994778694418127	0.786
18	19321777	A	T	18	21741816	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.996389175931184	0.82
18	19321778	G	A	18	21741817	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997536336441171	0.838
18	19321778	G	C	18	21741817	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998711664566183	0.884
18	19321778	G	T	18	21741817	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997743228863982	0.808
18	19321779	C	A	18	21741818	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00134677077322734	0.08
18	19321779	C	G	18	21741818	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00247842149114195	0.048
18	19321779	C	T	18	21741818	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00125613050040977	0.018
18	19321780	C	A	18	21741819	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.21907281384853E-4	0.018
18	19321780	C	G	18	21741819	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.21907281384853E-4	0.012
18	19321780	C	T	18	21741819	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.53533604978599E-4	0.008
18	19321781	G	A	18	21741820	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.96156959338548E-5	0.1
18	19321781	G	C	18	21741820	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.39491949995625E-5	0.044
18	19321781	G	T	18	21741820	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.2394064277537E-4	0.11
18	19345721	T	A	18	21765760	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.11575849655493	0.284
18	19345721	T	C	18	21765760	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.47967369075444E-4	0.1
18	19345721	T	G	18	21765760	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0970065688403011	0.278
18	19345722	T	A	18	21765761	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99994477809459	0.958
18	19345722	T	C	18	21765761	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0991518575313804	0.256
18	19345722	T	G	18	21765761	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.974169743967383	0.742
18	19345723	G	A	18	21765762	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.85951024703058E-4	0.064
18	19345723	G	C	18	21765762	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.31400111086488E-5	0.0
18	19345723	G	T	18	21765762	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.67664832086703E-5	0.008
18	19345724	T	A	18	21765763	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.840807228216559	0.674
18	19345724	T	C	18	21765763	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00307729806397936	0.05
18	19345724	T	G	18	21765763	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.864370329063227	0.694
18	19345725	T	A	18	21765764	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0225341092807289	0.24
18	19345725	T	C	18	21765764	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.67194318952854E-5	0.004
18	19345725	T	G	18	21765764	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00942916026034574	0.232
18	19345726	T	A	18	21765765	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.996893219204533	0.882
18	19345726	T	C	18	21765765	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0060767648114154	0.172
18	19345726	T	G	18	21765765	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.968563228082953	0.688
18	19345727	T	A	18	21765766	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0597975598177062	0.454
18	19345727	T	C	18	21765766	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.86475419601453E-5	0.002
18	19345727	T	G	18	21765766	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.11357836851113	0.56
18	19345728	A	C	18	21765767	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.78963061414864E-5	0.058
18	19345728	A	G	18	21765767	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.22428964795259E-4	0.048
18	19345728	A	T	18	21765767	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.45336525703036E-5	0.062
18	19345729	A	C	18	21765768	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.664892471260437	0.45
18	19345729	A	G	18	21765768	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99904047646177	0.828
18	19345729	A	T	18	21765768	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.867495262081787	0.52
18	19345730	T	A	18	21765769	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00108900811015368	0.238
18	19345730	T	C	18	21765769	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.23088226286592E-5	0.05
18	19345730	T	G	18	21765769	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.994501656185582	0.688
18	19345731	A	C	18	21765770	y	y	splicing	MIB1(NM_020774:exon2:c.230-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.230-2A>C)	.	.	0.999988247793601	0.93
18	19345731	A	G	18	21765770	y	y	splicing	MIB1(NM_020774:exon2:c.230-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.230-2A>G)	.	.	0.999988247793601	0.93
18	19345731	A	T	18	21765770	y	y	splicing	MIB1(NM_020774:exon2:c.230-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.230-2A>T)	.	.	0.999988247793601	0.93
18	19345732	G	A	18	21765771	y	y	splicing	MIB1(NM_020774:exon2:c.230-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.230-1G>A)	.	.	0.999989072007339	0.934
18	19345732	G	C	18	21765771	y	y	splicing	MIB1(NM_020774:exon2:c.230-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.230-1G>C)	.	.	0.999989072007339	0.934
18	19345732	G	T	18	21765771	y	y	splicing	MIB1(NM_020774:exon2:c.230-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.230-1G>T)	.	.	0.999989072007339	0.934
18	19345733	G	A	18	21765772	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.G230A:p.G77D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G230A:p.G77D;	0.999381176513628	0.948
18	19345733	G	C	18	21765772	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.G230C:p.G77A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G230C:p.G77A;	0.999878730045875	0.98
18	19345733	G	T	18	21765772	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.G230T:p.G77V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G230T:p.G77V;	0.999722070055961	0.992
18	19345734	C	A	18	21765773	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon2:c.C231A:p.G77G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.C231A:p.G77G;	1.40865935330241E-4	0.004
18	19345734	C	G	18	21765773	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon2:c.C231G:p.G77G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.C231G:p.G77G;	1.35735818060111E-4	0.008
18	19345734	C	T	18	21765773	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon2:c.C231T:p.G77G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.C231T:p.G77G;	3.38018642616306E-5	0.0
18	19345902	G	A	18	21765941	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon2:c.G399A:p.E133E;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G399A:p.E133E;	1.48845251054813E-4	0.006
18	19345902	G	C	18	21765941	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.G399C:p.E133D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G399C:p.E133D;	1.7473356984576E-4	0.016
18	19345902	G	T	18	21765941	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.G399T:p.E133D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G399T:p.E133D;	0.0133798102345144	0.242
18	19345903	A	C	18	21765942	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon2:c.A400C:p.R134R;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.A400C:p.R134R;	0.72942319248363	0.654
18	19345903	A	G	18	21765942	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.A400G:p.R134G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.A400G:p.R134G;	0.988134314295468	0.806
18	19345903	A	T	18	21765942	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.A400T:p.R134W;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.A400T:p.R134W;	0.998252123809555	0.8
18	19345904	G	A	18	21765943	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.G401A:p.R134K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G401A:p.R134K;	0.999982081310413	0.996
18	19345904	G	C	18	21765943	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.G401C:p.R134T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G401C:p.R134T;	0.999997723605816	0.996
18	19345904	G	T	18	21765943	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon2:c.G401T:p.R134M;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon2:c.G401T:p.R134M;	0.999986978124239	0.952
18	19345905	G	A	18	21765944	y	y	splicing	MIB1(NM_020774:exon2:c.401+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.401+1G>A)	.	.	0.999986675681007	0.924
18	19345905	G	C	18	21765944	y	y	splicing	MIB1(NM_020774:exon2:c.401+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.401+1G>C)	.	.	0.999986675681007	0.924
18	19345905	G	T	18	21765944	y	y	splicing	MIB1(NM_020774:exon2:c.401+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.401+1G>T)	.	.	0.999986675681007	0.924
18	19345906	T	A	18	21765945	y	y	splicing	MIB1(NM_020774:exon2:c.401+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.401+2T>A)	.	.	0.999988247793601	0.92
18	19345906	T	C	18	21765945	y	y	splicing	MIB1(NM_020774:exon2:c.401+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.401+2T>C)	.	.	0.994669226766359	0.672
18	19345906	T	G	18	21765945	y	y	splicing	MIB1(NM_020774:exon2:c.401+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon2:c.401+2T>G)	.	.	0.999988247793601	0.92
18	19345907	A	C	18	21765946	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999484295325034	0.96
18	19345907	A	G	18	21765946	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997718840181741	0.922
18	19345907	A	T	18	21765946	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999375199192775	0.954
18	19345908	G	A	18	21765947	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.80291464480349E-4	0.088
18	19345908	G	C	18	21765947	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.30016993080274E-5	0.022
18	19345908	G	T	18	21765947	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.25914498230392E-5	0.006
18	19345909	G	A	18	21765948	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999806784566831	0.918
18	19345909	G	C	18	21765948	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.996218735964542	0.74
18	19345909	G	T	18	21765948	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999871343817463	0.924
18	19345910	G	A	18	21765949	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.5247734874007E-5	0.002
18	19345910	G	C	18	21765949	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.17283355918006E-4	0.026
18	19345910	G	T	18	21765949	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.58800609919459E-5	0.002
18	19345911	A	C	18	21765950	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.00584447653403E-5	0.0
18	19345911	A	G	18	21765950	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.00584447653403E-5	0.0
18	19345911	A	T	18	21765950	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.00584447653403E-5	0.0
18	19345912	G	A	18	21765951	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.8166598796254E-4	0.016
18	19345912	G	C	18	21765951	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.85031519900634E-5	0.018
18	19345912	G	T	18	21765951	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.40521452416488E-4	0.024
18	19348572	T	A	18	21768611	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00252224512591699	0.122
18	19348572	T	C	18	21768611	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.18043486676207E-5	0.0
18	19348572	T	G	18	21768611	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.996689815173699	0.946
18	19348573	T	A	18	21768612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.522446892692546	0.384
18	19348573	T	C	18	21768612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00833169619532145	0.176
18	19348573	T	G	18	21768612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.59871244640496	0.44
18	19348574	T	A	18	21768613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0663065229896537	0.47
18	19348574	T	C	18	21768613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.23056700118888E-4	0.09
18	19348574	T	G	18	21768613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0133541916603499	0.456
18	19348575	T	A	18	21768614	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.990752961418131	0.716
18	19348575	T	C	18	21768614	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.243637334699566	0.3
18	19348575	T	G	18	21768614	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.965870757162728	0.794
18	19348576	A	C	18	21768615	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.34700289915005E-4	0.0
18	19348576	A	G	18	21768615	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.7452432175967E-4	0.008
18	19348576	A	T	18	21768615	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.18738628620525E-4	0.008
18	19348577	T	A	18	21768616	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0133810342587304	0.112
18	19348577	T	C	18	21768616	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.69950362387188E-4	0.022
18	19348577	T	G	18	21768616	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999963616772605	0.99
18	19348578	T	A	18	21768617	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.663185564061739	0.514
18	19348578	T	C	18	21768617	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.44377162676135E-4	0.054
18	19348578	T	G	18	21768617	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.822732385945133	0.508
18	19348579	T	A	18	21768618	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.964353253704433	0.692
18	19348579	T	C	18	21768618	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.115199621746948	0.176
18	19348579	T	G	18	21768618	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.989518124352245	0.678
18	19348580	T	A	18	21768619	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00145032122180513	0.054
18	19348580	T	C	18	21768619	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00148615934270035	0.018
18	19348580	T	G	18	21768619	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0183790532731086	0.034
18	19348581	T	A	18	21768620	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0184507855881434	0.274
18	19348581	T	C	18	21768620	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.41847804245972E-4	0.032
18	19348581	T	G	18	21768620	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999149685070376	0.78
18	19348582	A	C	18	21768621	y	y	splicing	MIB1(NM_020774:exon3:c.402-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.402-2A>C)	.	.	0.999989917668626	0.928
18	19348582	A	G	18	21768621	y	y	splicing	MIB1(NM_020774:exon3:c.402-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.402-2A>G)	.	.	0.999989917668626	0.928
18	19348582	A	T	18	21768621	y	y	splicing	MIB1(NM_020774:exon3:c.402-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.402-2A>T)	.	.	0.999989917668626	0.928
18	19348583	G	A	18	21768622	y	y	splicing	MIB1(NM_020774:exon3:c.402-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.402-1G>A)	.	.	0.999981760802075	0.94
18	19348583	G	C	18	21768622	y	y	splicing	MIB1(NM_020774:exon3:c.402-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.402-1G>C)	.	.	0.999981760802075	0.94
18	19348583	G	T	18	21768622	y	y	splicing	MIB1(NM_020774:exon3:c.402-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.402-1G>T)	.	.	0.999981760802075	0.94
18	19348584	G	A	18	21768623	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon3:c.G402A:p.R134R;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G402A:p.R134R;	0.997689641815238	0.74
18	19348584	G	C	18	21768623	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.G402C:p.R134S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G402C:p.R134S;	0.999177649735515	0.976
18	19348584	G	T	18	21768623	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.G402T:p.R134S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G402T:p.R134S;	0.99982568000352	0.992
18	19348585	G	A	18	21768624	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.G403A:p.V135I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G403A:p.V135I;	0.972901623194672	0.752
18	19348585	G	C	18	21768624	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.G403C:p.V135L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G403C:p.V135L;	0.984655014677409	0.778
18	19348585	G	T	18	21768624	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.G403T:p.V135F;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G403T:p.V135F;	0.978102983426071	0.854
18	19348711	A	C	18	21768750	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.A529C:p.K177Q;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.A529C:p.K177Q;	0.68667454453134	0.738
18	19348711	A	G	18	21768750	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.A529G:p.K177E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.A529G:p.K177E;	0.686117365817656	0.532
18	19348711	A	T	18	21768750	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon3:c.A529T:p.K177X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon3:c.A529T:p.K177X;	0.997553829925611	0.89
18	19348712	A	C	18	21768751	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.A530C:p.K177T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.A530C:p.K177T;	0.999828607083465	0.99
18	19348712	A	G	18	21768751	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.A530G:p.K177R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.A530G:p.K177R;	0.999777983830915	0.996
18	19348712	A	T	18	21768751	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.A530T:p.K177M;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.A530T:p.K177M;	0.999929579432104	0.996
18	19348713	G	A	18	21768752	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon3:c.G531A:p.K177K;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G531A:p.K177K;	0.999957967460598	1.0
18	19348713	G	C	18	21768752	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.G531C:p.K177N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G531C:p.K177N;	0.99999675263713	1.0
18	19348713	G	T	18	21768752	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon3:c.G531T:p.K177N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon3:c.G531T:p.K177N;	0.999989845216487	1.0
18	19348714	G	A	18	21768753	y	y	splicing	MIB1(NM_020774:exon3:c.531+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.531+1G>A)	.	.	0.999981760802075	0.956
18	19348714	G	C	18	21768753	y	y	splicing	MIB1(NM_020774:exon3:c.531+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.531+1G>C)	.	.	0.999981760802075	0.956
18	19348714	G	T	18	21768753	y	y	splicing	MIB1(NM_020774:exon3:c.531+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.531+1G>T)	.	.	0.999981760802075	0.956
18	19348715	T	A	18	21768754	y	y	splicing	MIB1(NM_020774:exon3:c.531+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.531+2T>A)	.	.	0.999989917668626	0.948
18	19348715	T	C	18	21768754	y	y	splicing	MIB1(NM_020774:exon3:c.531+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.531+2T>C)	.	.	0.992323021482646	0.646
18	19348715	T	G	18	21768754	y	y	splicing	MIB1(NM_020774:exon3:c.531+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon3:c.531+2T>G)	.	.	0.999989917668626	0.948
18	19348716	A	C	18	21768755	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999944418900018	0.95
18	19348716	A	G	18	21768755	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.930072415461746	0.79
18	19348716	A	T	18	21768755	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999685983280772	0.938
18	19348717	C	A	18	21768756	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.04649511241274E-4	0.136
18	19348717	C	G	18	21768756	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.12262079821926E-4	0.08
18	19348717	C	T	18	21768756	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00168864270128983	0.034
18	19348718	A	C	18	21768757	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.38573845748936E-4	0.042
18	19348718	A	G	18	21768757	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.18655046390102E-4	0.048
18	19348718	A	T	18	21768757	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.43205561248811E-4	0.02
18	19348719	G	A	18	21768758	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.0011368033825E-4	0.082
18	19348719	G	C	18	21768758	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.90107524893184E-4	0.092
18	19348719	G	T	18	21768758	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.32239949467034E-5	0.042
18	19348720	T	A	18	21768759	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.27477857246013E-5	0.012
18	19348720	T	C	18	21768759	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.2528521506938E-6	0.022
18	19348720	T	G	18	21768759	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.41947645406289E-5	0.004
18	19348721	G	A	18	21768760	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.40400089146089E-4	0.036
18	19348721	G	C	18	21768760	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.05990085115944E-5	0.018
18	19348721	G	T	18	21768760	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.43631574894169E-4	0.03
18	19353573	C	A	18	21773612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.91056470049186E-4	0.094
18	19353573	C	G	18	21773612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.995243961981239	0.912
18	19353573	C	T	18	21773612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.0291873933743E-5	0.0
18	19353574	T	A	18	21773613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.10746358272896	0.302
18	19353574	T	C	18	21773613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.11780167526386E-4	0.062
18	19353574	T	G	18	21773613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.244542108814614	0.354
18	19353575	A	C	18	21773614	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.44567246961622E-5	0.002
18	19353575	A	G	18	21773614	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.8562946442669E-5	0.004
18	19353575	A	T	18	21773614	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.44567246961622E-5	0.008
18	19353576	T	A	18	21773615	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.283621862293024	0.56
18	19353576	T	C	18	21773615	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00361289430459174	0.116
18	19353576	T	G	18	21773615	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999955202996839	0.968
18	19353577	T	A	18	21773616	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.862609237503026	0.58
18	19353577	T	C	18	21773616	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00131423971011089	0.108
18	19353577	T	G	18	21773616	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.60255593088646	0.574
18	19353578	C	A	18	21773617	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.06773731225494E-4	0.08
18	19353578	C	G	18	21773617	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.30120393282405E-4	0.182
18	19353578	C	T	18	21773617	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.94159756376537E-5	0.002
18	19353579	T	A	18	21773618	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999935454013415	0.962
18	19353579	T	C	18	21773618	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.03864925537705E-4	0.03
18	19353579	T	G	18	21773618	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.843742591696472	0.604
18	19353580	G	A	18	21773619	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.95365314195013E-5	0.006
18	19353580	G	C	18	21773619	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.44567246961622E-5	0.002
18	19353580	G	T	18	21773619	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.63893490425848E-5	0.0
18	19353581	T	A	18	21773620	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.07730672640419E-5	0.028
18	19353581	T	C	18	21773620	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.68965054280803E-5	0.032
18	19353581	T	G	18	21773620	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.90021933557767E-4	0.064
18	19353582	T	A	18	21773621	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0294245609031781	0.266
18	19353582	T	C	18	21773621	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.96373565552118E-5	0.006
18	19353582	T	G	18	21773621	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.561779940645139	0.624
18	19353583	A	C	18	21773622	y	y	splicing	MIB1(NM_020774:exon4:c.532-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.532-2A>C)	.	.	0.999964980827667	0.91
18	19353583	A	G	18	21773622	y	y	splicing	MIB1(NM_020774:exon4:c.532-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.532-2A>G)	.	.	0.999971864448174	0.91
18	19353583	A	T	18	21773622	y	y	splicing	MIB1(NM_020774:exon4:c.532-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.532-2A>T)	.	.	0.999974876897234	0.914
18	19353584	G	A	18	21773623	y	y	splicing	MIB1(NM_020774:exon4:c.532-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.532-1G>A)	.	.	0.999968021563937	0.926
18	19353584	G	C	18	21773623	y	y	splicing	MIB1(NM_020774:exon4:c.532-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.532-1G>C)	.	.	0.999968021563937	0.926
18	19353584	G	T	18	21773623	y	y	splicing	MIB1(NM_020774:exon4:c.532-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.532-1G>T)	.	.	0.999968021563937	0.926
18	19353585	G	A	18	21773624	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.G532A:p.V178I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.G532A:p.V178I;	0.999669226610386	0.898
18	19353585	G	C	18	21773624	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.G532C:p.V178L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.G532C:p.V178L;	0.999853674675877	0.95
18	19353585	G	T	18	21773624	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.G532T:p.V178L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.G532T:p.V178L;	0.999878715844767	0.988
18	19353586	T	A	18	21773625	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.T533A:p.V178E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.T533A:p.V178E;	0.187556516736566	0.352
18	19353586	T	C	18	21773625	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.T533C:p.V178A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.T533C:p.V178A;	0.16312729692925	0.426
18	19353586	T	G	18	21773625	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.T533G:p.V178G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.T533G:p.V178G;	0.100199134626265	0.358
18	19353687	A	C	18	21773726	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.A634C:p.M212L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.A634C:p.M212L;	0.0978141367872218	0.442
18	19353687	A	G	18	21773726	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.A634G:p.M212V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.A634G:p.M212V;	0.0296240171836507	0.312
18	19353687	A	T	18	21773726	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.A634T:p.M212L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.A634T:p.M212L;	0.727780167301675	0.466
18	19353688	T	A	18	21773727	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.T635A:p.M212K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.T635A:p.M212K;	0.00189639313770928	0.07
18	19353688	T	C	18	21773727	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.T635C:p.M212T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.T635C:p.M212T;	0.852179484899353	0.782
18	19353688	T	G	18	21773727	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.T635G:p.M212R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.T635G:p.M212R;	0.388741731849531	0.614
18	19353689	G	A	18	21773728	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.G636A:p.M212I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.G636A:p.M212I;	0.99970629559954	0.98
18	19353689	G	C	18	21773728	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.G636C:p.M212I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.G636C:p.M212I;	0.999818077265484	0.946
18	19353689	G	T	18	21773728	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon4:c.G636T:p.M212I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon4:c.G636T:p.M212I;	0.999644237019433	0.98
18	19353690	G	A	18	21773729	y	y	splicing	MIB1(NM_020774:exon4:c.636+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.636+1G>A)	.	.	0.999981760802075	0.94
18	19353690	G	C	18	21773729	y	y	splicing	MIB1(NM_020774:exon4:c.636+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.636+1G>C)	.	.	0.999981760802075	0.94
18	19353690	G	T	18	21773729	y	y	splicing	MIB1(NM_020774:exon4:c.636+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.636+1G>T)	.	.	0.999981760802075	0.94
18	19353691	T	A	18	21773730	y	y	splicing	MIB1(NM_020774:exon4:c.636+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.636+2T>A)	.	.	0.999992752818502	0.928
18	19353691	T	C	18	21773730	y	y	splicing	MIB1(NM_020774:exon4:c.636+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.636+2T>C)	.	.	0.992019297660769	0.646
18	19353691	T	G	18	21773730	y	y	splicing	MIB1(NM_020774:exon4:c.636+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon4:c.636+2T>G)	.	.	0.999992752818502	0.928
18	19353692	A	C	18	21773731	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.991164091969235	0.67
18	19353692	A	G	18	21773731	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00266644667976724	0.068
18	19353692	A	T	18	21773731	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.928602582552166	0.58
18	19353693	A	C	18	21773732	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.239211569496895	0.25
18	19353693	A	G	18	21773732	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.66562949762006	0.452
18	19353693	A	T	18	21773732	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.546216183130823	0.374
18	19353694	G	A	18	21773733	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998996410563033	0.9
18	19353694	G	C	18	21773733	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99832702573475	0.892
18	19353694	G	T	18	21773733	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998999858519348	0.918
18	19353695	T	A	18	21773734	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.177996820216306	0.416
18	19353695	T	C	18	21773734	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.226175680585638	0.43
18	19353695	T	G	18	21773734	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0706338499089827	0.34
18	19353696	A	C	18	21773735	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.9393328917667E-4	0.006
18	19353696	A	G	18	21773735	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.10231951210063E-4	0.006
18	19353696	A	T	18	21773735	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.00346486322162E-4	0.002
18	19353697	G	A	18	21773736	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.55552238144566E-4	0.002
18	19353697	G	C	18	21773736	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.81685680649784E-4	0.0
18	19353697	G	T	18	21773736	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.81685680649784E-4	0.014
18	19358052	T	A	18	21778091	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00810966224749888	0.096
18	19358052	T	C	18	21778091	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.98398755577713E-4	0.004
18	19358052	T	G	18	21778091	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00440720411055018	0.092
18	19358053	T	A	18	21778092	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0225292580443751	0.236
18	19358053	T	C	18	21778092	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00137465102663183	0.052
18	19358053	T	G	18	21778092	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00423061108831668	0.214
18	19358054	T	A	18	21778093	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.027966301640162	0.306
18	19358054	T	C	18	21778093	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00400474952652746	0.052
18	19358054	T	G	18	21778093	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0136888178623297	0.274
18	19358055	T	A	18	21778094	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00153311597286212	0.114
18	19358055	T	C	18	21778094	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.19272064279538E-4	0.008
18	19358055	T	G	18	21778094	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00153311597286212	0.128
18	19358056	C	A	18	21778095	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.28495894468319E-4	0.032
18	19358056	C	G	18	21778095	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.61916092011975E-4	0.018
18	19358056	C	T	18	21778095	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.33254432253744E-5	0.01
18	19358057	T	A	18	21778096	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00149145094842501	0.068
18	19358057	T	C	18	21778096	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.20537991993836E-4	0.01
18	19358057	T	G	18	21778096	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.52320579378933E-4	0.092
18	19358058	T	A	18	21778097	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0744689814925354	0.22
18	19358058	T	C	18	21778097	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00204928802774955	0.032
18	19358058	T	G	18	21778097	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0872958724301901	0.25
18	19358059	C	A	18	21778098	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0105419670667706	0.092
18	19358059	C	G	18	21778098	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.018249191791205	0.126
18	19358059	C	T	18	21778098	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.82824375474543E-4	0.01
18	19358060	T	A	18	21778099	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.36139849804901E-4	0.004
18	19358060	T	C	18	21778099	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.52240386394037E-4	0.002
18	19358060	T	G	18	21778099	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.15838005414123E-4	0.018
18	19358061	T	A	18	21778100	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.69838495041592	0.544
18	19358061	T	C	18	21778100	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00111724050826637	0.03
18	19358061	T	G	18	21778100	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999528018138559	0.922
18	19358062	A	C	18	21778101	y	y	splicing	MIB1(NM_020774:exon5:c.637-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.637-2A>C)	.	.	0.999988247793601	0.928
18	19358062	A	G	18	21778101	y	y	splicing	MIB1(NM_020774:exon5:c.637-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.637-2A>G)	.	.	0.999988247793601	0.928
18	19358062	A	T	18	21778101	y	y	splicing	MIB1(NM_020774:exon5:c.637-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.637-2A>T)	.	.	0.999988247793601	0.928
18	19358063	G	A	18	21778102	y	y	splicing	MIB1(NM_020774:exon5:c.637-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.637-1G>A)	.	.	0.999985532734767	0.936
18	19358063	G	C	18	21778102	y	y	splicing	MIB1(NM_020774:exon5:c.637-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.637-1G>C)	.	.	0.999985532734767	0.936
18	19358063	G	T	18	21778102	y	y	splicing	MIB1(NM_020774:exon5:c.637-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.637-1G>T)	.	.	0.999985532734767	0.936
18	19358064	T	A	18	21778103	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.T637A:p.S213T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.T637A:p.S213T;	0.495990836278021	0.752
18	19358064	T	C	18	21778103	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.T637C:p.S213P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.T637C:p.S213P;	0.784084142671443	0.732
18	19358064	T	G	18	21778103	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.T637G:p.S213A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.T637G:p.S213A;	0.00235123234229821	0.086
18	19358065	C	A	18	21778104	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.C638A:p.S213Y;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.C638A:p.S213Y;	0.986950072382675	0.858
18	19358065	C	G	18	21778104	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.C638G:p.S213C;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.C638G:p.S213C;	0.966691989705422	0.788
18	19358065	C	T	18	21778104	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.C638T:p.S213F;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.C638T:p.S213F;	0.974122690956094	0.856
18	19358128	T	A	18	21778167	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.T701A:p.L234Q;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.T701A:p.L234Q;	0.440346357150018	0.72
18	19358128	T	C	18	21778167	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.T701C:p.L234P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.T701C:p.L234P;	0.440346357150018	0.728
18	19358128	T	G	18	21778167	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.T701G:p.L234R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.T701G:p.L234R;	0.554700996999152	0.78
18	19358129	A	C	18	21778168	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon5:c.A702C:p.L234L;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.A702C:p.L234L;	0.120433781180215	0.534
18	19358129	A	G	18	21778168	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon5:c.A702G:p.L234L;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.A702G:p.L234L;	0.174059112266925	0.366
18	19358129	A	T	18	21778168	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon5:c.A702T:p.L234L;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.A702T:p.L234L;	0.13666838855197	0.528
18	19358130	G	A	18	21778169	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.G703A:p.G235S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.G703A:p.G235S;	0.999467127080193	0.986
18	19358130	G	C	18	21778169	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.G703C:p.G235R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.G703C:p.G235R;	0.996000444508461	0.904
18	19358130	G	T	18	21778169	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon5:c.G703T:p.G235C;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon5:c.G703T:p.G235C;	0.999539468492286	0.956
18	19358131	G	A	18	21778170	y	y	splicing	MIB1(NM_020774:exon5:c.703+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.703+1G>A)	.	.	0.999989483462543	0.938
18	19358131	G	C	18	21778170	y	y	splicing	MIB1(NM_020774:exon5:c.703+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.703+1G>C)	.	.	0.999989483462543	0.938
18	19358131	G	T	18	21778170	y	y	splicing	MIB1(NM_020774:exon5:c.703+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.703+1G>T)	.	.	0.999989483462543	0.938
18	19358132	T	A	18	21778171	y	y	splicing	MIB1(NM_020774:exon5:c.703+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.703+2T>A)	.	.	0.999988247793601	0.928
18	19358132	T	C	18	21778171	y	y	splicing	MIB1(NM_020774:exon5:c.703+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.703+2T>C)	.	.	0.999929727175276	0.854
18	19358132	T	G	18	21778171	y	y	splicing	MIB1(NM_020774:exon5:c.703+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon5:c.703+2T>G)	.	.	0.999988247793601	0.928
18	19358133	G	A	18	21778172	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.04996325417213E-4	0.012
18	19358133	G	C	18	21778172	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.229772269046329	0.468
18	19358133	G	T	18	21778172	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.302754125963834	0.5
18	19358134	A	C	18	21778173	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.533574798086043	0.506
18	19358134	A	G	18	21778173	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.978367996995143	0.646
18	19358134	A	T	18	21778173	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.991755631369383	0.738
18	19358135	G	A	18	21778174	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999313527081027	0.938
18	19358135	G	C	18	21778174	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997030954935984	0.892
18	19358135	G	T	18	21778174	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997507302589217	0.894
18	19358136	T	A	18	21778175	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.380420369344536	0.474
18	19358136	T	C	18	21778175	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0742394763923522	0.31
18	19358136	T	G	18	21778175	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0119529322021482	0.254
18	19358137	G	A	18	21778176	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.53630303493499E-5	0.0
18	19358137	G	C	18	21778176	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.53630303493499E-5	0.0
18	19358137	G	T	18	21778176	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.20845358692133E-5	0.002
18	19358138	A	C	18	21778177	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.01233061565404E-4	0.002
18	19358138	A	G	18	21778177	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.74359842730815E-4	0.004
18	19358138	A	T	18	21778177	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.77978745885032E-4	0.002
18	19359430	C	A	18	21779469	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.71393425467152E-4	0.116
18	19359430	C	G	18	21779469	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.9332665037514E-4	0.076
18	19359430	C	T	18	21779469	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.24352083395089E-5	0.176
18	19359431	T	A	18	21779470	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999964495508293	0.98
18	19359431	T	C	18	21779470	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.962240187879806	0.612
18	19359431	T	G	18	21779470	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998899717465899	0.948
18	19359432	G	A	18	21779471	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0072100676274556	0.138
18	19359432	G	C	18	21779471	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00280410465071382	0.074
18	19359432	G	T	18	21779471	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00325952879027619	0.134
18	19359433	A	C	18	21779472	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.68707224949229E-5	0.156
18	19359433	A	G	18	21779472	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.4024416230165E-4	0.27
18	19359433	A	T	18	21779472	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.77660923407267E-5	0.134
18	19359434	A	C	18	21779473	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00115506744954854	0.05
18	19359434	A	G	18	21779473	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998564115538711	0.928
18	19359434	A	T	18	21779473	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00113638755557819	0.042
18	19359435	A	C	18	21779474	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00203528930376137	0.076
18	19359435	A	G	18	21779474	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998868227575339	0.894
18	19359435	A	T	18	21779474	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00203528930376137	0.066
18	19359436	T	A	18	21779475	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.700569470029693	0.53
18	19359436	T	C	18	21779475	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.23623637541072E-4	0.052
18	19359436	T	G	18	21779475	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999974301230714	0.974
18	19359437	T	A	18	21779476	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.981144541040759	0.658
18	19359437	T	C	18	21779476	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.331925422317764	0.25
18	19359437	T	G	18	21779476	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.978823686814472	0.644
18	19359438	A	C	18	21779477	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.55757341021378E-4	0.094
18	19359438	A	G	18	21779477	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00523268225887418	0.148
18	19359438	A	T	18	21779477	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00112939999668347	0.048
18	19359439	C	A	18	21779478	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.950998262979269	0.594
18	19359439	C	G	18	21779478	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999884068673143	0.804
18	19359439	C	T	18	21779478	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00130376436552224	0.048
18	19359440	A	C	18	21779479	y	y	splicing	MIB1(NM_020774:exon6:c.704-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.704-2A>C)	.	.	0.999993519952936	0.948
18	19359440	A	G	18	21779479	y	y	splicing	MIB1(NM_020774:exon6:c.704-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.704-2A>G)	.	.	0.999993519952936	0.948
18	19359440	A	T	18	21779479	y	y	splicing	MIB1(NM_020774:exon6:c.704-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.704-2A>T)	.	.	0.999993519952936	0.948
18	19359441	G	A	18	21779480	y	y	splicing	MIB1(NM_020774:exon6:c.704-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.704-1G>A)	.	.	0.999992446697775	0.948
18	19359441	G	C	18	21779480	y	y	splicing	MIB1(NM_020774:exon6:c.704-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.704-1G>C)	.	.	0.999992446697775	0.948
18	19359441	G	T	18	21779480	y	y	splicing	MIB1(NM_020774:exon6:c.704-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.704-1G>T)	.	.	0.999992446697775	0.948
18	19359442	G	A	18	21779481	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.G704A:p.G235D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.G704A:p.G235D;	0.999009003957115	0.892
18	19359442	G	C	18	21779481	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.G704C:p.G235A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.G704C:p.G235A;	0.999494238844886	0.934
18	19359442	G	T	18	21779481	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.G704T:p.G235V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.G704T:p.G235V;	0.99988058570586	0.982
18	19359443	T	A	18	21779482	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon6:c.T705A:p.G235G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.T705A:p.G235G;	0.128775902486988	0.18
18	19359443	T	C	18	21779482	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon6:c.T705C:p.G235G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.T705C:p.G235G;	0.15015294802123	0.178
18	19359443	T	G	18	21779482	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon6:c.T705G:p.G235G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.T705G:p.G235G;	0.125661870008289	0.162
18	19359644	T	A	18	21779683	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.T906A:p.N302K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.T906A:p.N302K;	0.00214307686856278	0.11
18	19359644	T	C	18	21779683	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon6:c.T906C:p.N302N;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.T906C:p.N302N;	7.4718266980392E-4	0.096
18	19359644	T	G	18	21779683	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.T906G:p.N302K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.T906G:p.N302K;	0.00292573009228681	0.132
18	19359645	A	C	18	21779684	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon6:c.A907C:p.R303R;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.A907C:p.R303R;	0.965163409920514	0.852
18	19359645	A	G	18	21779684	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.A907G:p.R303G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.A907G:p.R303G;	0.999685269731827	0.994
18	19359645	A	T	18	21779684	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.A907T:p.R303W;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.A907T:p.R303W;	0.999730426401694	0.992
18	19359646	G	A	18	21779685	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.G908A:p.R303K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.G908A:p.R303K;	0.999994018939052	1.0
18	19359646	G	C	18	21779685	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.G908C:p.R303T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.G908C:p.R303T;	0.999996241269528	0.998
18	19359646	G	T	18	21779685	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon6:c.G908T:p.R303M;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon6:c.G908T:p.R303M;	0.999989398094008	0.998
18	19359647	G	A	18	21779686	y	y	splicing	MIB1(NM_020774:exon6:c.908+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.908+1G>A)	.	.	0.999992446697775	0.92
18	19359647	G	C	18	21779686	y	y	splicing	MIB1(NM_020774:exon6:c.908+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.908+1G>C)	.	.	0.999992446697775	0.92
18	19359647	G	T	18	21779686	y	y	splicing	MIB1(NM_020774:exon6:c.908+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.908+1G>T)	.	.	0.999992446697775	0.92
18	19359648	T	A	18	21779687	y	y	splicing	MIB1(NM_020774:exon6:c.908+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.908+2T>A)	.	.	0.999993672935256	0.916
18	19359648	T	C	18	21779687	y	y	splicing	MIB1(NM_020774:exon6:c.908+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.908+2T>C)	.	.	0.999959541454763	0.85
18	19359648	T	G	18	21779687	y	y	splicing	MIB1(NM_020774:exon6:c.908+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon6:c.908+2T>G)	.	.	0.999993672935256	0.866
18	19359649	G	A	18	21779688	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.08067643007515E-5	0.112
18	19359649	G	C	18	21779688	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0754866278826872	0.342
18	19359649	G	T	18	21779688	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0109127485050575	0.204
18	19359650	G	A	18	21779689	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00371063665592777	0.29
18	19359650	G	C	18	21779689	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00131255824887107	0.08
18	19359650	G	T	18	21779689	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00496607673805297	0.04
18	19359651	G	A	18	21779690	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.9999604071762	0.978
18	19359651	G	C	18	21779690	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999978895658597	0.994
18	19359651	G	T	18	21779690	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999991745651251	0.984
18	19359652	T	A	18	21779691	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.947125895835006	0.72
18	19359652	T	C	18	21779691	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.34881362262671	0.5
18	19359652	T	G	18	21779691	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.837599293801176	0.684
18	19359653	G	A	18	21779692	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.38510632387034E-5	0.004
18	19359653	G	C	18	21779692	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.6919154940971E-5	0.0
18	19359653	G	T	18	21779692	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.31333593980197E-5	0.012
18	19359654	A	C	18	21779693	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.35247046141589E-5	0.0
18	19359654	A	G	18	21779693	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.2371996484535E-5	0.0
18	19359654	A	T	18	21779693	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.38828222107493E-4	0.0
18	19371323	T	A	18	21791362	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00906675787777212	0.214
18	19371323	T	C	18	21791362	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00248492554882529	0.082
18	19371323	T	G	18	21791362	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00674897655707875	0.208
18	19371324	T	A	18	21791363	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999273776179862	0.906
18	19371324	T	C	18	21791363	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.31547858571133E-4	0.084
18	19371324	T	G	18	21791363	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0133137877024731	0.316
18	19371325	G	A	18	21791364	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.17073175863609E-4	0.022
18	19371325	G	C	18	21791364	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.85293487889527E-4	0.0
18	19371325	G	T	18	21791364	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.97474835944471E-4	0.0
18	19371326	C	A	18	21791365	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.44126841468654E-4	0.002
18	19371326	C	G	18	21791365	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.58342363880875E-4	0.016
18	19371326	C	T	18	21791365	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.35176480286442E-5	0.0
18	19371327	T	A	18	21791366	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00305801648982163	0.15
18	19371327	T	C	18	21791366	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.61490928971192E-5	0.0
18	19371327	T	G	18	21791366	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00135895369380894	0.128
18	19371328	C	A	18	21791367	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00118332980064519	0.05
18	19371328	C	G	18	21791367	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.45999967353524E-4	0.018
18	19371328	C	T	18	21791367	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.95384592669207E-5	0.0
18	19371329	T	A	18	21791368	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0576968072924159	0.168
18	19371329	T	C	18	21791368	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.43541056154466E-4	0.022
18	19371329	T	G	18	21791368	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0434144151527524	0.156
18	19371330	T	A	18	21791369	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999382920564095	0.918
18	19371330	T	C	18	21791369	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.40809143036184E-4	0.028
18	19371330	T	G	18	21791369	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00972687551060614	0.202
18	19371331	G	A	18	21791370	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.29825082327614E-4	0.0
18	19371331	G	C	18	21791370	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.36666992560731E-5	0.0
18	19371331	G	T	18	21791370	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.79583178443447E-5	0.0
18	19371332	T	A	18	21791371	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0113006324658971	0.214
18	19371332	T	C	18	21791371	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.21386184174676E-5	0.002
18	19371332	T	G	18	21791371	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.994140527459184	0.676
18	19371333	A	C	18	21791372	y	y	splicing	MIB1(NM_020774:exon7:c.909-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.909-2A>C)	.	.	0.999988247793601	0.93
18	19371333	A	G	18	21791372	y	y	splicing	MIB1(NM_020774:exon7:c.909-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.909-2A>G)	.	.	0.999988247793601	0.93
18	19371333	A	T	18	21791372	y	y	splicing	MIB1(NM_020774:exon7:c.909-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.909-2A>T)	.	.	0.999988247793601	0.93
18	19371334	G	A	18	21791373	y	y	splicing	MIB1(NM_020774:exon7:c.909-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.909-1G>A)	.	.	0.999989072007339	0.934
18	19371334	G	C	18	21791373	y	y	splicing	MIB1(NM_020774:exon7:c.909-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.909-1G>C)	.	.	0.999989072007339	0.934
18	19371334	G	T	18	21791373	y	y	splicing	MIB1(NM_020774:exon7:c.909-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.909-1G>T)	.	.	0.999989072007339	0.934
18	19371335	G	A	18	21791374	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon7:c.G909A:p.R303R;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.G909A:p.R303R;	0.00226960320969401	0.148
18	19371335	G	C	18	21791374	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.G909C:p.R303S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.G909C:p.R303S;	0.501697257114626	0.562
18	19371335	G	T	18	21791374	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.G909T:p.R303S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.G909T:p.R303S;	0.954322619801092	0.686
18	19371336	T	A	18	21791375	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.T910A:p.W304R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.T910A:p.W304R;	0.767228585040146	0.478
18	19371336	T	C	18	21791375	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.T910C:p.W304R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.T910C:p.W304R;	0.781007278416802	0.468
18	19371336	T	G	18	21791375	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.T910G:p.W304G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.T910G:p.W304G;	0.668440266468488	0.512
18	19371516	C	A	18	21791555	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.C1090A:p.P364T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.C1090A:p.P364T;	0.956320063078363	0.798
18	19371516	C	G	18	21791555	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.C1090G:p.P364A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.C1090G:p.P364A;	0.954310429618632	0.636
18	19371516	C	T	18	21791555	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.C1090T:p.P364S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.C1090T:p.P364S;	0.999290008583048	0.79
18	19371517	C	A	18	21791556	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.C1091A:p.P364Q;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.C1091A:p.P364Q;	0.509626235144655	0.574
18	19371517	C	G	18	21791556	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.C1091G:p.P364R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.C1091G:p.P364R;	0.725823377150021	0.748
18	19371517	C	T	18	21791556	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon7:c.C1091T:p.P364L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.C1091T:p.P364L;	0.713234699199251	0.694
18	19371518	A	C	18	21791557	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon7:c.A1092C:p.P364P;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.A1092C:p.P364P;	1.50950469341185E-4	0.088
18	19371518	A	G	18	21791557	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon7:c.A1092G:p.P364P;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.A1092G:p.P364P;	4.15780553780627E-5	0.084
18	19371518	A	T	18	21791557	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon7:c.A1092T:p.P364P;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon7:c.A1092T:p.P364P;	0.00250705833127184	0.146
18	19371519	G	A	18	21791558	y	y	splicing	MIB1(NM_020774:exon7:c.1092+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.1092+1G>A)	.	.	0.999990361384395	0.938
18	19371519	G	C	18	21791558	y	y	splicing	MIB1(NM_020774:exon7:c.1092+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.1092+1G>C)	.	.	0.999990361384395	0.938
18	19371519	G	T	18	21791558	y	y	splicing	MIB1(NM_020774:exon7:c.1092+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.1092+1G>T)	.	.	0.999990361384395	0.938
18	19371520	T	A	18	21791559	y	y	splicing	MIB1(NM_020774:exon7:c.1092+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.1092+2T>A)	.	.	0.999988247793601	0.932
18	19371520	T	C	18	21791559	y	y	splicing	MIB1(NM_020774:exon7:c.1092+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.1092+2T>C)	.	.	0.99593384708436	0.72
18	19371520	T	G	18	21791559	y	y	splicing	MIB1(NM_020774:exon7:c.1092+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon7:c.1092+2T>G)	.	.	0.999988247793601	0.932
18	19371521	A	C	18	21791560	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99987690816632	0.918
18	19371521	A	G	18	21791560	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.132300680987172	0.328
18	19371521	A	T	18	21791560	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999849032391158	0.952
18	19371522	A	C	18	21791561	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.985953851732744	0.732
18	19371522	A	G	18	21791561	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.996670300399681	0.924
18	19371522	A	T	18	21791561	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.995471496741056	0.918
18	19371523	G	A	18	21791562	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999985464470403	0.994
18	19371523	G	C	18	21791562	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999976008337081	0.95
18	19371523	G	T	18	21791562	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999976008337081	0.98
18	19371524	T	A	18	21791563	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998112073903605	0.802
18	19371524	T	C	18	21791563	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998050243707965	0.944
18	19371524	T	G	18	21791563	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997353257131563	0.932
18	19371525	A	C	18	21791564	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00261860824499827	0.018
18	19371525	A	G	18	21791564	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00261860824499827	0.014
18	19371525	A	T	18	21791564	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00269113861976401	0.014
18	19371526	T	A	18	21791565	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.58375069679829E-4	0.02
18	19371526	T	C	18	21791565	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.6412967361558E-4	0.066
18	19371526	T	G	18	21791565	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.29028584299138E-4	0.026
18	19378033	T	A	18	21798072	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00177642228144726	0.084
18	19378033	T	C	18	21798072	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.37500358211701E-4	0.074
18	19378033	T	G	18	21798072	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00248085621604583	0.09
18	19378034	T	A	18	21798073	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0103641848578706	0.204
18	19378034	T	C	18	21798073	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.99841630066278E-4	0.106
18	19378034	T	G	18	21798073	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00180897617919347	0.114
18	19378035	T	A	18	21798074	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0123214368069907	0.246
18	19378035	T	C	18	21798074	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00820674279630437	0.144
18	19378035	T	G	18	21798074	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00224577712378033	0.14
18	19378036	T	A	18	21798075	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.26432276980943E-4	0.164
18	19378036	T	C	18	21798075	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.63605159608695E-4	0.02
18	19378036	T	G	18	21798075	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.42103857306052E-4	0.126
18	19378037	T	A	18	21798076	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00131576732296131	0.188
18	19378037	T	C	18	21798076	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.35641708450922E-4	0.018
18	19378037	T	G	18	21798076	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00166542945364067	0.128
18	19378038	C	A	18	21798077	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00421625149313832	0.238
18	19378038	C	G	18	21798077	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0056551809362875	0.276
18	19378038	C	T	18	21798077	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.27150481465623E-5	0.0
18	19378039	C	A	18	21798078	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00555852215966421	0.388
18	19378039	C	G	18	21798078	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.218710909089755	0.434
18	19378039	C	T	18	21798078	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.21482324555079E-5	0.002
18	19378040	C	A	18	21798079	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00419761773389011	0.238
18	19378040	C	G	18	21798079	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0037418448874979	0.268
18	19378040	C	T	18	21798079	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.17842478653002E-5	0.0
18	19378041	C	A	18	21798080	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.33924739228669E-5	0.052
18	19378041	C	G	18	21798080	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.70271437136175E-5	0.04
18	19378041	C	T	18	21798080	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.04737358081722E-5	0.036
18	19378042	A	C	18	21798081	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.32411599462916E-4	0.05
18	19378042	A	G	18	21798081	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.521199183008603	0.46
18	19378042	A	T	18	21798081	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00273235553950515	0.036
18	19378043	A	C	18	21798082	y	y	splicing	MIB1(NM_020774:exon8:c.1093-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1093-2A>C)	.	.	0.999988247793601	0.94
18	19378043	A	G	18	21798082	y	y	splicing	MIB1(NM_020774:exon8:c.1093-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1093-2A>G)	.	.	0.999988247793601	0.94
18	19378043	A	T	18	21798082	y	y	splicing	MIB1(NM_020774:exon8:c.1093-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1093-2A>T)	.	.	0.999988247793601	0.94
18	19378044	G	A	18	21798083	y	y	splicing	MIB1(NM_020774:exon8:c.1093-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1093-1G>A)	.	.	0.999986675681007	0.94
18	19378044	G	C	18	21798083	y	y	splicing	MIB1(NM_020774:exon8:c.1093-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1093-1G>C)	.	.	0.999986675681007	0.94
18	19378044	G	T	18	21798083	y	y	splicing	MIB1(NM_020774:exon8:c.1093-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1093-1G>T)	.	.	0.999986675681007	0.94
18	19378045	A	C	18	21798084	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.A1093C:p.T365P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.A1093C:p.T365P;	0.676596116207892	0.582
18	19378045	A	G	18	21798084	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.A1093G:p.T365A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.A1093G:p.T365A;	0.00101002906844343	0.02
18	19378045	A	T	18	21798084	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.A1093T:p.T365S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.A1093T:p.T365S;	0.693296490282683	0.522
18	19378046	C	A	18	21798085	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.C1094A:p.T365N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.C1094A:p.T365N;	0.970553894892241	0.632
18	19378046	C	G	18	21798085	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.C1094G:p.T365S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.C1094G:p.T365S;	0.962208350259712	0.656
18	19378046	C	T	18	21798085	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.C1094T:p.T365I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.C1094T:p.T365I;	0.975012250318159	0.73
18	19378187	G	A	18	21798226	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.G1235A:p.G412D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.G1235A:p.G412D;	0.896149137098182	0.734
18	19378187	G	C	18	21798226	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.G1235C:p.G412A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.G1235C:p.G412A;	0.930770164471324	0.73
18	19378187	G	T	18	21798226	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.G1235T:p.G412V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.G1235T:p.G412V;	0.991516593436756	0.876
18	19378188	T	A	18	21798227	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon8:c.T1236A:p.G412G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.T1236A:p.G412G;	0.00154388805077173	0.194
18	19378188	T	C	18	21798227	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon8:c.T1236C:p.G412G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.T1236C:p.G412G;	0.00297817671620877	0.068
18	19378188	T	G	18	21798227	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon8:c.T1236G:p.G412G;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.T1236G:p.G412G;	0.0071040678710684	0.142
18	19378189	G	A	18	21798228	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.G1237A:p.E413K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.G1237A:p.E413K;	0.999988633160343	1.0
18	19378189	G	C	18	21798228	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon8:c.G1237C:p.E413Q;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon8:c.G1237C:p.E413Q;	0.999992844179934	0.976
18	19378189	G	T	18	21798228	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon8:c.G1237T:p.E413X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon8:c.G1237T:p.E413X;	0.999966939846511	0.98
18	19378190	G	A	18	21798229	y	y	splicing	MIB1(NM_020774:exon8:c.1237+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1237+1G>A)	.	.	0.999986675681007	0.948
18	19378190	G	C	18	21798229	y	y	splicing	MIB1(NM_020774:exon8:c.1237+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1237+1G>C)	.	.	0.999986675681007	0.948
18	19378190	G	T	18	21798229	y	y	splicing	MIB1(NM_020774:exon8:c.1237+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1237+1G>T)	.	.	0.999986675681007	0.948
18	19378191	T	A	18	21798230	y	y	splicing	MIB1(NM_020774:exon8:c.1237+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1237+2T>A)	.	.	0.999981808176352	0.942
18	19378191	T	C	18	21798230	y	y	splicing	MIB1(NM_020774:exon8:c.1237+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1237+2T>C)	.	.	0.988611915353586	0.58
18	19378191	T	G	18	21798230	y	y	splicing	MIB1(NM_020774:exon8:c.1237+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon8:c.1237+2T>G)	.	.	0.999981808176352	0.942
18	19378192	A	C	18	21798231	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999953495386828	0.964
18	19378192	A	G	18	21798231	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998106961640045	0.98
18	19378192	A	T	18	21798231	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99988382509	0.97
18	19378193	T	A	18	21798232	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.038203525543E-4	0.058
18	19378193	T	C	18	21798232	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00106820028901015	0.084
18	19378193	T	G	18	21798232	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.33806926987175E-4	0.264
18	19378194	G	A	18	21798233	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999953001500729	1.0
18	19378194	G	C	18	21798233	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999963560703119	0.994
18	19378194	G	T	18	21798233	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999700040446381	0.982
18	19378195	T	A	18	21798234	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.994656773122832	0.778
18	19378195	T	C	18	21798234	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.990557084731412	0.874
18	19378195	T	G	18	21798234	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.990256933949045	0.926
18	19378196	T	A	18	21798235	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.112305557900006	0.35
18	19378196	T	C	18	21798235	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0837012617760266	0.208
18	19378196	T	G	18	21798235	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.112930757989138	0.212
18	19378197	T	A	18	21798236	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00126407300455642	0.026
18	19378197	T	C	18	21798236	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00126429101201126	0.03
18	19378197	T	G	18	21798236	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00837236813069634	0.17
18	19379790	G	A	18	21799829	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.93324331333957E-4	0.034
18	19379790	G	C	18	21799829	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.12790942301637E-4	0.0
18	19379790	G	T	18	21799829	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.07977285603467E-4	0.016
18	19379791	A	C	18	21799830	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.55910244464538E-5	0.016
18	19379791	A	G	18	21799830	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.02295545408925E-5	0.014
18	19379791	A	T	18	21799830	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.27556345361882E-5	0.06
18	19379792	T	A	18	21799831	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999984210924319	0.978
18	19379792	T	C	18	21799831	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.587764669123083	0.47
18	19379792	T	G	18	21799831	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999983164046764	0.974
18	19379793	G	A	18	21799832	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0012227728348822	0.134
18	19379793	G	C	18	21799832	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.09490467132875E-5	0.066
18	19379793	G	T	18	21799832	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.34586066123088E-4	0.07
18	19379794	C	A	18	21799833	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00329858957371512	0.09
18	19379794	C	G	18	21799833	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0302516229643994	0.128
18	19379794	C	T	18	21799833	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.00105636573154E-4	0.0
18	19379795	T	A	18	21799834	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.194436158216226	0.41
18	19379795	T	C	18	21799834	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.40570909363126E-5	0.06
18	19379795	T	G	18	21799834	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.198389539560801	0.412
18	19379796	T	A	18	21799835	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997560890167068	0.884
18	19379796	T	C	18	21799835	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.019680802879434	0.18
18	19379796	T	G	18	21799835	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997304383961658	0.904
18	19379797	T	A	18	21799836	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.87642760126321	0.692
18	19379797	T	C	18	21799836	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0267151062832594	0.146
18	19379797	T	G	18	21799836	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.912152616841934	0.708
18	19379798	A	C	18	21799837	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.57147232761427E-4	0.014
18	19379798	A	G	18	21799837	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.093115898325E-4	0.078
18	19379798	A	T	18	21799837	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.79987807500566E-5	0.036
18	19379799	C	A	18	21799838	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999860471418865	0.932
18	19379799	C	G	18	21799838	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999892230049874	0.926
18	19379799	C	T	18	21799838	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.334992910710779	0.096
18	19379800	A	C	18	21799839	y	y	splicing	MIB1(NM_020774:exon9:c.1238-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1238-2A>C)	.	.	0.999988247793601	0.932
18	19379800	A	G	18	21799839	y	y	splicing	MIB1(NM_020774:exon9:c.1238-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1238-2A>G)	.	.	0.999988247793601	0.932
18	19379800	A	T	18	21799839	y	y	splicing	MIB1(NM_020774:exon9:c.1238-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1238-2A>T)	.	.	0.999988247793601	0.932
18	19379801	G	A	18	21799840	y	y	splicing	MIB1(NM_020774:exon9:c.1238-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1238-1G>A)	.	.	0.999989072007339	0.934
18	19379801	G	C	18	21799840	y	y	splicing	MIB1(NM_020774:exon9:c.1238-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1238-1G>C)	.	.	0.999989072007339	0.934
18	19379801	G	T	18	21799840	y	y	splicing	MIB1(NM_020774:exon9:c.1238-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1238-1G>T)	.	.	0.999989072007339	0.934
18	19379802	A	C	18	21799841	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.A1238C:p.E413A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1238C:p.E413A;	0.817140489221346	0.544
18	19379802	A	G	18	21799841	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.A1238G:p.E413G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1238G:p.E413G;	0.713248387380696	0.488
18	19379802	A	T	18	21799841	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.A1238T:p.E413V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1238T:p.E413V;	0.798564329397588	0.54
18	19379803	A	C	18	21799842	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.A1239C:p.E413D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1239C:p.E413D;	0.259869166544646	0.492
18	19379803	A	G	18	21799842	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon9:c.A1239G:p.E413E;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1239G:p.E413E;	0.0586961793560871	0.16
18	19379803	A	T	18	21799842	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.A1239T:p.E413D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1239T:p.E413D;	0.291274252325927	0.39
18	19379933	G	A	18	21799972	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.G1369A:p.D457N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.G1369A:p.D457N;	0.960230196739454	0.804
18	19379933	G	C	18	21799972	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.G1369C:p.D457H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.G1369C:p.D457H;	0.960230196739454	0.788
18	19379933	G	T	18	21799972	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.G1369T:p.D457Y;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.G1369T:p.D457Y;	0.98533713422058	0.692
18	19379934	A	C	18	21799973	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.A1370C:p.D457A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1370C:p.D457A;	0.997770532481338	0.858
18	19379934	A	G	18	21799973	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.A1370G:p.D457G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1370G:p.D457G;	0.997779654752494	0.888
18	19379934	A	T	18	21799973	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.A1370T:p.D457V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.A1370T:p.D457V;	0.998846337507341	0.9
18	19379935	T	A	18	21799974	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.T1371A:p.D457E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.T1371A:p.D457E;	0.917893752900298	0.684
18	19379935	T	C	18	21799974	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon9:c.T1371C:p.D457D;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.T1371C:p.D457D;	0.368877592274498	0.528
18	19379935	T	G	18	21799974	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon9:c.T1371G:p.D457E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon9:c.T1371G:p.D457E;	0.563949855741082	0.388
18	19379936	G	A	18	21799975	y	y	splicing	MIB1(NM_020774:exon9:c.1371+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1371+1G>A)	.	.	0.999978115769202	0.9
18	19379936	G	C	18	21799975	y	y	splicing	MIB1(NM_020774:exon9:c.1371+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1371+1G>C)	.	.	0.999978115769202	0.9
18	19379936	G	T	18	21799975	y	y	splicing	MIB1(NM_020774:exon9:c.1371+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1371+1G>T)	.	.	0.999978115769202	0.9
18	19379937	T	A	18	21799976	y	y	splicing	MIB1(NM_020774:exon9:c.1371+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1371+2T>A)	.	.	0.999914511980801	0.906
18	19379937	T	C	18	21799976	y	y	splicing	MIB1(NM_020774:exon9:c.1371+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1371+2T>C)	.	.	0.999419023082226	0.86
18	19379937	T	G	18	21799976	y	y	splicing	MIB1(NM_020774:exon9:c.1371+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon9:c.1371+2T>G)	.	.	0.999914511980801	0.906
18	19379938	G	A	18	21799977	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.14111359141396E-5	0.004
18	19379938	G	C	18	21799977	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.654075417034838	0.486
18	19379938	G	T	18	21799977	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.688365261136608	0.466
18	19379939	A	C	18	21799978	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999695992726812	0.892
18	19379939	A	G	18	21799978	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999566243840524	0.928
18	19379939	A	T	18	21799978	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999763893689647	0.906
18	19379940	G	A	18	21799979	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999989968602025	0.926
18	19379940	G	C	18	21799979	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999989968602025	0.94
18	19379940	G	T	18	21799979	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999989968602025	0.908
18	19379941	C	A	18	21799980	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.82180952477058E-4	0.084
18	19379941	C	G	18	21799980	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.38186274307738E-5	0.036
18	19379941	C	T	18	21799980	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.08344518949719E-5	0.042
18	19379942	A	C	18	21799981	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.006223868285703	0.086
18	19379942	A	G	18	21799981	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00864102287998702	0.088
18	19379942	A	T	18	21799981	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0112482365076448	0.094
18	19379943	T	A	18	21799982	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.58568374989301E-4	0.03
18	19379943	T	C	18	21799982	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.98446507424274E-4	0.19
18	19379943	T	G	18	21799982	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.98446507424274E-4	0.19
18	19383856	T	A	18	21803895	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00347578875760933	0.386
18	19383856	T	C	18	21803895	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.26159235629824E-5	0.068
18	19383856	T	G	18	21803895	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.38088801183383E-4	0.236
18	19383857	A	C	18	21803896	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.31378247454735E-5	0.004
18	19383857	A	G	18	21803896	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.07830165639321E-5	0.042
18	19383857	A	T	18	21803896	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.33684777350849E-5	0.042
18	19383858	A	C	18	21803897	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.55908716824608E-5	0.0
18	19383858	A	G	18	21803897	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.64050750246068	0.468
18	19383858	A	T	18	21803897	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67944982512943E-5	0.002
18	19383859	A	C	18	21803898	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67944982512943E-5	0.0
18	19383859	A	G	18	21803898	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.64050750246068	0.522
18	19383859	A	T	18	21803898	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67944982512943E-5	0.006
18	19383860	A	C	18	21803899	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67944982512943E-5	0.0
18	19383860	A	G	18	21803899	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.661616801866159	0.63
18	19383860	A	T	18	21803899	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67944982512943E-5	0.018
18	19383861	A	C	18	21803900	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.47561075105231E-5	0.008
18	19383861	A	G	18	21803900	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998501297223769	0.964
18	19383861	A	T	18	21803900	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.70383050307327E-5	0.05
18	19383862	A	C	18	21803901	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.0710559425376E-4	0.114
18	19383862	A	G	18	21803901	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998254281626562	0.932
18	19383862	A	T	18	21803901	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.37596808613474E-4	0.026
18	19383863	T	A	18	21803902	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997228226326726	0.856
18	19383863	T	C	18	21803902	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00136095301671064	0.166
18	19383863	T	G	18	21803902	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999554764573686	0.9
18	19383864	G	A	18	21803903	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.67657139451836E-5	0.0
18	19383864	G	C	18	21803903	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.17551718961877E-5	0.0
18	19383864	G	T	18	21803903	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.56972480012607E-5	0.0
18	19383865	T	A	18	21803904	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0711029136661278	0.41
18	19383865	T	C	18	21803904	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.79027260677436E-5	0.058
18	19383865	T	G	18	21803904	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.787096729466338	0.546
18	19383866	A	C	18	21803905	y	y	splicing	MIB1(NM_020774:exon10:c.1372-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1372-2A>C)	.	.	0.99994515364607	0.88
18	19383866	A	G	18	21803905	y	y	splicing	MIB1(NM_020774:exon10:c.1372-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1372-2A>G)	.	.	0.99994515364607	0.88
18	19383866	A	T	18	21803905	y	y	splicing	MIB1(NM_020774:exon10:c.1372-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1372-2A>T)	.	.	0.99994515364607	0.882
18	19383867	G	A	18	21803906	y	y	splicing	MIB1(NM_020774:exon10:c.1372-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1372-1G>A)	.	.	0.999985060940668	0.88
18	19383867	G	C	18	21803906	y	y	splicing	MIB1(NM_020774:exon10:c.1372-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1372-1G>C)	.	.	0.999985060940668	0.88
18	19383867	G	T	18	21803906	y	y	splicing	MIB1(NM_020774:exon10:c.1372-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1372-1G>T)	.	.	0.999985060940668	0.88
18	19383868	G	A	18	21803907	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.G1372A:p.V458I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.G1372A:p.V458I;	0.999323487898243	0.926
18	19383868	G	C	18	21803907	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.G1372C:p.V458L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.G1372C:p.V458L;	0.999690794929572	0.9
18	19383868	G	T	18	21803907	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.G1372T:p.V458L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.G1372T:p.V458L;	0.999796550337947	0.924
18	19383869	T	A	18	21803908	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.T1373A:p.V458E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.T1373A:p.V458E;	0.245700788278099	0.51
18	19383869	T	C	18	21803908	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.T1373C:p.V458A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.T1373C:p.V458A;	0.210887334315189	0.444
18	19383869	T	G	18	21803908	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.T1373G:p.V458G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.T1373G:p.V458G;	0.340160701906361	0.452
18	19383973	G	A	18	21804012	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.G1477A:p.E493K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.G1477A:p.E493K;	0.0241214685774889	0.288
18	19383973	G	C	18	21804012	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.G1477C:p.E493Q;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.G1477C:p.E493Q;	0.0241214685774889	0.294
18	19383973	G	T	18	21804012	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon10:c.G1477T:p.E493X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon10:c.G1477T:p.E493X;	0.0747186832822668	0.44
18	19383974	A	C	18	21804013	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.A1478C:p.E493A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.A1478C:p.E493A;	0.988596010309406	0.762
18	19383974	A	G	18	21804013	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.A1478G:p.E493G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.A1478G:p.E493G;	0.989562657321318	0.9
18	19383974	A	T	18	21804013	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.A1478T:p.E493V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.A1478T:p.E493V;	0.991636997704416	0.654
18	19383975	G	A	18	21804014	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon10:c.G1479A:p.E493E;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.G1479A:p.E493E;	0.996565335193544	0.864
18	19383975	G	C	18	21804014	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.G1479C:p.E493D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.G1479C:p.E493D;	0.999430549197668	0.91
18	19383975	G	T	18	21804014	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon10:c.G1479T:p.E493D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon10:c.G1479T:p.E493D;	0.999246034672212	0.85
18	19383976	G	A	18	21804015	y	y	splicing	MIB1(NM_020774:exon10:c.1479+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1479+1G>A)	.	.	0.999981760802075	0.944
18	19383976	G	C	18	21804015	y	y	splicing	MIB1(NM_020774:exon10:c.1479+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1479+1G>C)	.	.	0.999981760802075	0.944
18	19383976	G	T	18	21804015	y	y	splicing	MIB1(NM_020774:exon10:c.1479+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1479+1G>T)	.	.	0.999981760802075	0.944
18	19383977	T	A	18	21804016	y	y	splicing	MIB1(NM_020774:exon10:c.1479+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1479+2T>A)	.	.	0.999989917668626	0.928
18	19383977	T	C	18	21804016	y	y	splicing	MIB1(NM_020774:exon10:c.1479+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1479+2T>C)	.	.	0.992535761479193	0.648
18	19383977	T	G	18	21804016	y	y	splicing	MIB1(NM_020774:exon10:c.1479+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon10:c.1479+2T>G)	.	.	0.999989917668626	0.928
18	19383978	A	C	18	21804017	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.986737520230819	0.786
18	19383978	A	G	18	21804017	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.212144776407276	0.176
18	19383978	A	T	18	21804017	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.985034549781161	0.78
18	19383979	A	C	18	21804018	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.160821591861002	0.282
18	19383979	A	G	18	21804018	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0769948771611918	0.23
18	19383979	A	T	18	21804018	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.118354759045987	0.224
18	19383980	G	A	18	21804019	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.77259719107906	0.564
18	19383980	G	C	18	21804019	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.72272250410246	0.536
18	19383980	G	T	18	21804019	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.682252708938564	0.54
18	19383981	T	A	18	21804020	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.970714972045819	0.544
18	19383981	T	C	18	21804020	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.939916281711086	0.562
18	19383981	T	G	18	21804020	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.891504116818477	0.452
18	19383982	A	C	18	21804021	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.44958268314859E-4	0.002
18	19383982	A	G	18	21804021	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.44958268314859E-4	0.0
18	19383982	A	T	18	21804021	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.54549637442944E-4	0.024
18	19383983	A	C	18	21804022	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.121264826040194	0.486
18	19383983	A	G	18	21804022	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.121264826040194	0.492
18	19383983	A	T	18	21804022	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.217919477049487	0.552
18	19395565	A	C	18	21815604	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00665333115881867	0.178
18	19395565	A	G	18	21815604	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0040510136052725	0.062
18	19395565	A	T	18	21815604	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0160853747509243	0.212
18	19395566	C	A	18	21815605	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.76295330085306E-4	0.108
18	19395566	C	G	18	21815605	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998673444268379	0.924
18	19395566	C	T	18	21815605	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.45767861380116E-5	0.172
18	19395567	T	A	18	21815606	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.95891985173133	0.78
18	19395567	T	C	18	21815606	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00954781634534495	0.284
18	19395567	T	G	18	21815606	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.692129938075122	0.696
18	19395568	A	C	18	21815607	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.31053163900038E-5	0.11
18	19395568	A	G	18	21815607	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.16671972863479E-5	0.03
18	19395568	A	T	18	21815607	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.21687273720437E-5	0.13
18	19395569	A	C	18	21815608	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.50198646609535E-4	0.058
18	19395569	A	G	18	21815608	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998943647887933	0.938
18	19395569	A	T	18	21815608	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.75578243676329E-4	0.046
18	19395570	T	A	18	21815609	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.995277355138091	0.93
18	19395570	T	C	18	21815609	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.77707554403275E-5	0.002
18	19395570	T	G	18	21815609	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99293736610637	0.934
18	19395571	G	A	18	21815610	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.92502699474043E-5	0.01
18	19395571	G	C	18	21815610	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.09951230022909E-5	0.012
18	19395571	G	T	18	21815610	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.09951230022909E-5	0.008
18	19395572	A	C	18	21815611	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.43955687173208E-5	0.024
18	19395572	A	G	18	21815611	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00244174074419191	0.076
18	19395572	A	T	18	21815611	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.61745880318768E-5	0.02
18	19395573	T	A	18	21815612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.06283146779593E-4	0.01
18	19395573	T	C	18	21815612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.81096498719715E-5	0.024
18	19395573	T	G	18	21815612	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998241319365389	0.986
18	19395574	T	A	18	21815613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.680628021809061	0.526
18	19395574	T	C	18	21815613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.32378879479965E-5	0.026
18	19395574	T	G	18	21815613	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.94547969435989	0.634
18	19395575	A	C	18	21815614	y	y	splicing	MIB1(NM_020774:exon11:c.1480-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1480-2A>C)	.	.	0.999948655262987	0.89
18	19395575	A	G	18	21815614	y	y	splicing	MIB1(NM_020774:exon11:c.1480-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1480-2A>G)	.	.	0.999948655262987	0.89
18	19395575	A	T	18	21815614	y	y	splicing	MIB1(NM_020774:exon11:c.1480-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1480-2A>T)	.	.	0.999948655262987	0.89
18	19395576	G	A	18	21815615	y	y	splicing	MIB1(NM_020774:exon11:c.1480-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1480-1G>A)	.	.	0.999964469209436	0.884
18	19395576	G	C	18	21815615	y	y	splicing	MIB1(NM_020774:exon11:c.1480-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1480-1G>C)	.	.	0.999964469209436	0.884
18	19395576	G	T	18	21815615	y	y	splicing	MIB1(NM_020774:exon11:c.1480-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1480-1G>T)	.	.	0.999964469209436	0.884
18	19395577	G	A	18	21815616	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.G1480A:p.D494N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.G1480A:p.D494N;	0.999899171857057	0.832
18	19395577	G	C	18	21815616	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.G1480C:p.D494H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.G1480C:p.D494H;	0.999926116486307	0.858
18	19395577	G	T	18	21815616	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.G1480T:p.D494Y;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.G1480T:p.D494Y;	0.99994266855167	0.928
18	19395578	A	C	18	21815617	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.A1481C:p.D494A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.A1481C:p.D494A;	0.877658842543653	0.61
18	19395578	A	G	18	21815617	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.A1481G:p.D494G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.A1481G:p.D494G;	0.753246766559266	0.712
18	19395578	A	T	18	21815617	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.A1481T:p.D494V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.A1481T:p.D494V;	0.812656765516559	0.748
18	19395772	C	A	18	21815811	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.C1675A:p.Q559K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.C1675A:p.Q559K;	0.834315171652569	0.732
18	19395772	C	G	18	21815811	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.C1675G:p.Q559E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.C1675G:p.Q559E;	0.593838167936895	0.618
18	19395772	C	T	18	21815811	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon11:c.C1675T:p.Q559X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon11:c.C1675T:p.Q559X;	0.999041632890315	0.938
18	19395773	A	C	18	21815812	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.A1676C:p.Q559P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.A1676C:p.Q559P;	0.995983580984744	0.856
18	19395773	A	G	18	21815812	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.A1676G:p.Q559R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.A1676G:p.Q559R;	0.997908554286189	0.938
18	19395773	A	T	18	21815812	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.A1676T:p.Q559L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.A1676T:p.Q559L;	0.999766722516323	0.998
18	19395774	G	A	18	21815813	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon11:c.G1677A:p.Q559Q;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.G1677A:p.Q559Q;	0.99997395163219	1.0
18	19395774	G	C	18	21815813	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.G1677C:p.Q559H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.G1677C:p.Q559H;	0.999997690078459	1.0
18	19395774	G	T	18	21815813	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon11:c.G1677T:p.Q559H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon11:c.G1677T:p.Q559H;	0.999987469944553	0.998
18	19395775	G	A	18	21815814	y	y	splicing	MIB1(NM_020774:exon11:c.1677+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1677+1G>A)	.	.	0.999981760802075	0.938
18	19395775	G	C	18	21815814	y	y	splicing	MIB1(NM_020774:exon11:c.1677+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1677+1G>C)	.	.	0.999981760802075	0.938
18	19395775	G	T	18	21815814	y	y	splicing	MIB1(NM_020774:exon11:c.1677+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1677+1G>T)	.	.	0.999981760802075	0.938
18	19395776	T	A	18	21815815	y	y	splicing	MIB1(NM_020774:exon11:c.1677+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1677+2T>A)	.	.	0.999989917668626	0.928
18	19395776	T	C	18	21815815	y	y	splicing	MIB1(NM_020774:exon11:c.1677+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1677+2T>C)	.	.	0.99580463867012	0.658
18	19395776	T	G	18	21815815	y	y	splicing	MIB1(NM_020774:exon11:c.1677+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon11:c.1677+2T>G)	.	.	0.999989917668626	0.928
18	19395777	A	C	18	21815816	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999953276177357	0.964
18	19395777	A	G	18	21815816	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999496531394337	0.892
18	19395777	A	T	18	21815816	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999859472961405	0.95
18	19395778	A	C	18	21815817	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.16801712363638	0.332
18	19395778	A	G	18	21815817	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.49265251177068	0.382
18	19395778	A	T	18	21815817	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.478340142163367	0.346
18	19395779	A	C	18	21815818	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.10355818368404E-4	0.04
18	19395779	A	G	18	21815818	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.45009984817217E-4	0.032
18	19395779	A	T	18	21815818	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.54006853070368E-4	0.036
18	19395780	A	C	18	21815819	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.01633161103335E-4	0.056
18	19395780	A	G	18	21815819	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.71254986679349E-5	0.002
18	19395780	A	T	18	21815819	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.23666864259885E-5	0.0
18	19395781	C	A	18	21815820	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.43100791824472E-4	0.008
18	19395781	C	G	18	21815820	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.08272510946397E-4	0.004
18	19395781	C	T	18	21815820	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00135233634094165	0.026
18	19395782	C	A	18	21815821	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.55180487373952E-4	0.008
18	19395782	C	G	18	21815821	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.49024288724466E-4	0.01
18	19395782	C	T	18	21815821	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.12799340901614E-4	0.002
18	19399444	T	A	18	21819483	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.709642001714868	0.654
18	19399444	T	C	18	21819483	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00177772318897959	0.132
18	19399444	T	G	18	21819483	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.573400722067645	0.662
18	19399445	T	A	18	21819484	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.963575386012784	0.776
18	19399445	T	C	18	21819484	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0498550882689948	0.322
18	19399445	T	G	18	21819484	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.972471889410596	0.778
18	19399446	A	C	18	21819485	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.15341974949267E-5	0.02
18	19399446	A	G	18	21819485	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.36886342866697E-5	0.018
18	19399446	A	T	18	21819485	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.50084035779602E-5	0.06
18	19399447	A	C	18	21819486	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.47876482712222E-4	0.046
18	19399447	A	G	18	21819486	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999105560276664	0.978
18	19399447	A	T	18	21819486	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.76269687439989E-4	0.114
18	19399448	A	C	18	21819487	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.52656926065831E-4	0.01
18	19399448	A	G	18	21819487	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998588089711197	0.958
18	19399448	A	T	18	21819487	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67279162384481E-4	0.02
18	19399449	C	A	18	21819488	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00492923215307398	0.166
18	19399449	C	G	18	21819488	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999802461935753	0.978
18	19399449	C	T	18	21819488	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.01135386776459E-4	0.022
18	19399450	T	A	18	21819489	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.941708686061321	0.672
18	19399450	T	C	18	21819489	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.25767636724094E-4	0.064
18	19399450	T	G	18	21819489	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.973190014676463	0.686
18	19399451	T	A	18	21819490	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.90069634298602	0.546
18	19399451	T	C	18	21819490	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00152708606608595	0.174
18	19399451	T	G	18	21819490	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.9917065549789	0.632
18	19399452	A	C	18	21819491	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.9870163808434E-4	0.056
18	19399452	A	G	18	21819491	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00179870550608329	0.088
18	19399452	A	T	18	21819491	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.008262121415617	0.092
18	19399453	A	C	18	21819492	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.53565698883801E-4	0.08
18	19399453	A	G	18	21819492	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.170160462079706	0.358
18	19399453	A	T	18	21819492	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.32300114812179E-4	0.032
18	19399454	A	C	18	21819493	y	y	splicing	MIB1(NM_020774:exon12:c.1678-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1678-2A>C)	.	.	0.999982322733069	0.916
18	19399454	A	G	18	21819493	y	y	splicing	MIB1(NM_020774:exon12:c.1678-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1678-2A>G)	.	.	0.999982322733069	0.916
18	19399454	A	T	18	21819493	y	y	splicing	MIB1(NM_020774:exon12:c.1678-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1678-2A>T)	.	.	0.999982322733069	0.916
18	19399455	G	A	18	21819494	y	y	splicing	MIB1(NM_020774:exon12:c.1678-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1678-1G>A)	.	.	0.999976638640456	0.914
18	19399455	G	C	18	21819494	y	y	splicing	MIB1(NM_020774:exon12:c.1678-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1678-1G>C)	.	.	0.999976638640456	0.914
18	19399455	G	T	18	21819494	y	y	splicing	MIB1(NM_020774:exon12:c.1678-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1678-1G>T)	.	.	0.999976638640456	0.914
18	19399456	G	A	18	21819495	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.G1678A:p.D560N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.G1678A:p.D560N;	0.999782200997798	0.91
18	19399456	G	C	18	21819495	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.G1678C:p.D560H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.G1678C:p.D560H;	0.999591041516763	0.956
18	19399456	G	T	18	21819495	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.G1678T:p.D560Y;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.G1678T:p.D560Y;	0.999879947632142	0.988
18	19399457	A	C	18	21819496	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.A1679C:p.D560A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.A1679C:p.D560A;	0.641483832274495	0.644
18	19399457	A	G	18	21819496	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.A1679G:p.D560G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.A1679G:p.D560G;	0.718009971790495	0.702
18	19399457	A	T	18	21819496	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.A1679T:p.D560V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.A1679T:p.D560V;	0.645895119011958	0.738
18	19399605	C	A	18	21819644	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon12:c.C1827A:p.P609P;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.C1827A:p.P609P;	0.00221946074730448	0.074
18	19399605	C	G	18	21819644	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon12:c.C1827G:p.P609P;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.C1827G:p.P609P;	0.00140538745221944	0.044
18	19399605	C	T	18	21819644	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon12:c.C1827T:p.P609P;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.C1827T:p.P609P;	0.184845394191753	0.4
18	19399606	A	C	18	21819645	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.A1828C:p.S610R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.A1828C:p.S610R;	0.991383818181481	0.94
18	19399606	A	G	18	21819645	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.A1828G:p.S610G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.A1828G:p.S610G;	0.99606673783828	0.916
18	19399606	A	T	18	21819645	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.A1828T:p.S610C;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.A1828T:p.S610C;	0.999353587293553	0.96
18	19399607	G	A	18	21819646	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.G1829A:p.S610N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.G1829A:p.S610N;	0.999642456219195	0.978
18	19399607	G	C	18	21819646	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.G1829C:p.S610T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.G1829C:p.S610T;	0.999915081330174	0.958
18	19399607	G	T	18	21819646	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon12:c.G1829T:p.S610I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon12:c.G1829T:p.S610I;	0.999906495387044	0.972
18	19399608	G	A	18	21819647	y	y	splicing	MIB1(NM_020774:exon12:c.1829+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1829+1G>A)	.	.	0.999986675681007	0.934
18	19399608	G	C	18	21819647	y	y	splicing	MIB1(NM_020774:exon12:c.1829+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1829+1G>C)	.	.	0.999986675681007	0.934
18	19399608	G	T	18	21819647	y	y	splicing	MIB1(NM_020774:exon12:c.1829+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1829+1G>T)	.	.	0.999986675681007	0.934
18	19399609	T	A	18	21819648	y	y	splicing	MIB1(NM_020774:exon12:c.1829+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1829+2T>A)	.	.	0.999989917668626	0.928
18	19399609	T	C	18	21819648	y	y	splicing	MIB1(NM_020774:exon12:c.1829+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1829+2T>C)	.	.	0.991007250132327	0.626
18	19399609	T	G	18	21819648	y	y	splicing	MIB1(NM_020774:exon12:c.1829+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon12:c.1829+2T>G)	.	.	0.999989917668626	0.928
18	19399610	A	C	18	21819649	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.9579288829331	0.65
18	19399610	A	G	18	21819649	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0747321115686504	0.544
18	19399610	A	T	18	21819649	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.935389919366379	0.612
18	19399611	T	A	18	21819650	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.03017158623097E-5	0.046
18	19399611	T	C	18	21819650	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.60032994133218E-5	0.004
18	19399611	T	G	18	21819650	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.00673038569367E-5	0.0
18	19399612	G	A	18	21819651	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.693417003057823	0.482
18	19399612	G	C	18	21819651	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.742579223079732	0.524
18	19399612	G	T	18	21819651	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.351012521254316	0.46
18	19399613	T	A	18	21819652	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00517397729419301	0.172
18	19399613	T	C	18	21819652	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00169312634478033	0.2
18	19399613	T	G	18	21819652	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.80633610211261E-4	0.12
18	19399614	C	A	18	21819653	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00525533106466477	0.126
18	19399614	C	G	18	21819653	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00525533106466477	0.042
18	19399614	C	T	18	21819653	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00525533106466477	0.1
18	19399615	A	C	18	21819654	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.70745204006654E-4	0.002
18	19399615	A	G	18	21819654	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.86284370520164E-4	0.006
18	19399615	A	T	18	21819654	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.92138607206838E-4	0.012
18	19418314	T	A	18	21838353	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.881982844725014	0.758
18	19418314	T	C	18	21838353	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0107039449353063	0.084
18	19418314	T	G	18	21838353	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999928053272495	0.952
18	19418315	T	A	18	21838354	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999761125698159	0.964
18	19418315	T	C	18	21838354	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.989466168107159	0.676
18	19418315	T	G	18	21838354	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999720101494057	0.936
18	19418316	T	A	18	21838355	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998910185134443	0.89
18	19418316	T	C	18	21838355	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.369100694522441	0.376
18	19418316	T	G	18	21838355	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998610474917979	0.898
18	19418317	A	C	18	21838356	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.9620173821929E-5	0.256
18	19418317	A	G	18	21838356	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.88436239717392E-4	0.164
18	19418317	A	T	18	21838356	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.11888131402761E-4	0.306
18	19418318	A	C	18	21838357	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.11126726606462E-5	0.084
18	19418318	A	G	18	21838357	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999006705137903	0.864
18	19418318	A	T	18	21838357	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.64528429059098E-5	0.092
18	19418319	C	A	18	21838358	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0031827704456326	0.1
18	19418319	C	G	18	21838358	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999760860000645	0.992
18	19418319	C	T	18	21838358	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.58094143225202E-4	0.04
18	19418320	T	A	18	21838359	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99113980911351	0.804
18	19418320	T	C	18	21838359	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00865265569666984	0.126
18	19418320	T	G	18	21838359	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.977222155869368	0.78
18	19418321	T	A	18	21838360	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998277117071147	0.902
18	19418321	T	C	18	21838360	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.2782426041444	0.364
18	19418321	T	G	18	21838360	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998164319328129	0.9
18	19418322	T	A	18	21838361	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00214188206025184	0.07
18	19418322	T	C	18	21838361	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00131934625754092	0.088
18	19418322	T	G	18	21838361	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00144914794133645	0.116
18	19418323	C	A	18	21838362	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.986354882811865	0.828
18	19418323	C	G	18	21838362	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999102110571154	0.91
18	19418323	C	T	18	21838362	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.024640454334072	0.186
18	19418324	A	C	18	21838363	y	y	splicing	MIB1(NM_020774:exon13:c.1830-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1830-2A>C)	.	.	0.999979394981131	0.91
18	19418324	A	G	18	21838363	y	y	splicing	MIB1(NM_020774:exon13:c.1830-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1830-2A>G)	.	.	0.999979394981131	0.91
18	19418324	A	T	18	21838363	y	y	splicing	MIB1(NM_020774:exon13:c.1830-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1830-2A>T)	.	.	0.999979394981131	0.91
18	19418325	G	A	18	21838364	y	y	splicing	MIB1(NM_020774:exon13:c.1830-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1830-1G>A)	.	.	0.999980303772886	0.904
18	19418325	G	C	18	21838364	y	y	splicing	MIB1(NM_020774:exon13:c.1830-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1830-1G>C)	.	.	0.999980303772886	0.904
18	19418325	G	T	18	21838364	y	y	splicing	MIB1(NM_020774:exon13:c.1830-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1830-1G>T)	.	.	0.999980303772886	0.904
18	19418326	T	A	18	21838365	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.T1830A:p.S610R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.T1830A:p.S610R;	0.00176495786359941	0.126
18	19418326	T	C	18	21838365	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon13:c.T1830C:p.S610S;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.T1830C:p.S610S;	8.12225910752213E-5	0.03
18	19418326	T	G	18	21838365	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.T1830G:p.S610R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.T1830G:p.S610R;	0.00193873420192854	0.184
18	19418327	G	A	18	21838366	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.G1831A:p.A611T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.G1831A:p.A611T;	0.982013550021745	0.756
18	19418327	G	C	18	21838366	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.G1831C:p.A611P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.G1831C:p.A611P;	0.988887754171306	0.78
18	19418327	G	T	18	21838366	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.G1831T:p.A611S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.G1831T:p.A611S;	0.982748447224166	0.87
18	19418456	C	A	18	21838495	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.C1960A:p.Q654K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.C1960A:p.Q654K;	0.94963312183836	0.772
18	19418456	C	G	18	21838495	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.C1960G:p.Q654E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.C1960G:p.Q654E;	0.00769251644453508	0.106
18	19418456	C	T	18	21838495	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon13:c.C1960T:p.Q654X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon13:c.C1960T:p.Q654X;	0.998735378006623	0.752
18	19418457	A	C	18	21838496	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.A1961C:p.Q654P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.A1961C:p.Q654P;	0.993637178381362	0.866
18	19418457	A	G	18	21838496	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.A1961G:p.Q654R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.A1961G:p.Q654R;	0.997580684234467	0.95
18	19418457	A	T	18	21838496	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.A1961T:p.Q654L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.A1961T:p.Q654L;	0.9951674209188	0.638
18	19418458	G	A	18	21838497	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon13:c.G1962A:p.Q654Q;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.G1962A:p.Q654Q;	0.999903901219851	0.91
18	19418458	G	C	18	21838497	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.G1962C:p.Q654H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.G1962C:p.Q654H;	0.999967724067185	0.962
18	19418458	G	T	18	21838497	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon13:c.G1962T:p.Q654H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon13:c.G1962T:p.Q654H;	0.999931936495437	0.98
18	19418459	G	A	18	21838498	y	y	splicing	MIB1(NM_020774:exon13:c.1962+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1962+1G>A)	.	.	0.999989072007339	0.934
18	19418459	G	C	18	21838498	y	y	splicing	MIB1(NM_020774:exon13:c.1962+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1962+1G>C)	.	.	0.999989072007339	0.934
18	19418459	G	T	18	21838498	y	y	splicing	MIB1(NM_020774:exon13:c.1962+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1962+1G>T)	.	.	0.999989072007339	0.934
18	19418460	T	A	18	21838499	y	y	splicing	MIB1(NM_020774:exon13:c.1962+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1962+2T>A)	.	.	0.999988247793601	0.93
18	19418460	T	C	18	21838499	y	y	splicing	MIB1(NM_020774:exon13:c.1962+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1962+2T>C)	.	.	0.994669226766359	0.686
18	19418460	T	G	18	21838499	y	y	splicing	MIB1(NM_020774:exon13:c.1962+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon13:c.1962+2T>G)	.	.	0.999988247793601	0.93
18	19418461	A	C	18	21838500	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.978135720063416	0.736
18	19418461	A	G	18	21838500	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0250176986629606	0.172
18	19418461	A	T	18	21838500	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.919091003084482	0.636
18	19418462	A	C	18	21838501	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.108459880293066	0.318
18	19418462	A	G	18	21838501	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.618623081745986	0.384
18	19418462	A	T	18	21838501	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.123663176827676	0.286
18	19418463	G	A	18	21838502	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999819286847418	0.868
18	19418463	G	C	18	21838502	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999793932804628	0.89
18	19418463	G	T	18	21838502	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999869112302775	0.814
18	19418464	A	C	18	21838503	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.71317884003885E-4	0.012
18	19418464	A	G	18	21838503	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.05576672470283E-5	0.004
18	19418464	A	T	18	21838503	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.86062472504141E-5	0.068
18	19418465	A	C	18	21838504	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0100637101069719	0.114
18	19418465	A	G	18	21838504	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0100637101069719	0.084
18	19418465	A	T	18	21838504	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0199063151013829	0.104
18	19418466	A	C	18	21838505	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.911103709025019	0.776
18	19418466	A	G	18	21838505	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.911103709025019	0.768
18	19418466	A	T	18	21838505	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.911103709025019	0.744
18	19423080	C	A	18	21843119	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.12419173403916E-4	0.034
18	19423080	C	G	18	21843119	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.53570509577224E-5	0.016
18	19423080	C	T	18	21843119	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.17569391535794E-5	0.0
18	19423081	T	A	18	21843120	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0882233555397941	0.458
18	19423081	T	C	18	21843120	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0135696893416299	0.138
18	19423081	T	G	18	21843120	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0748337095963698	0.474
18	19423082	T	A	18	21843121	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00763799479884634	0.164
18	19423082	T	C	18	21843121	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.04231460719508E-4	0.02
18	19423082	T	G	18	21843121	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00857452100103314	0.152
18	19423083	C	A	18	21843122	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.75969454431269E-4	0.016
18	19423083	C	G	18	21843122	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.79648638288329E-4	0.046
18	19423083	C	T	18	21843122	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.2798287113551E-5	0.002
18	19423084	T	A	18	21843123	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.00343559778522E-4	0.012
18	19423084	T	C	18	21843123	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.45349191266937E-5	0.0
18	19423084	T	G	18	21843123	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.24450119675282E-4	0.014
18	19423085	C	A	18	21843124	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.867995805582274	0.928
18	19423085	C	G	18	21843124	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.17483265869253E-4	0.01
18	19423085	C	T	18	21843124	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.46315698918773E-5	0.0
18	19423086	G	A	18	21843125	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.49235034756948E-5	0.012
18	19423086	G	C	18	21843125	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.69410552865449E-5	0.008
18	19423086	G	T	18	21843125	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.68095496272151E-5	0.0
18	19423087	T	A	18	21843126	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00488637414249421	0.21
18	19423087	T	C	18	21843126	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.89994303992685E-4	0.016
18	19423087	T	G	18	21843126	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00778608916953578	0.23
18	19423088	T	A	18	21843127	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00135648289150871	0.048
18	19423088	T	C	18	21843127	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.82924307940409E-4	0.05
18	19423088	T	G	18	21843127	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.91444694267432E-4	0.016
18	19423089	C	A	18	21843128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.754898888683709	0.544
18	19423089	C	G	18	21843128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999908696144007	0.964
18	19423089	C	T	18	21843128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00514812553777603	0.124
18	19423090	A	C	18	21843129	y	y	splicing	MIB1(NM_020774:exon14:c.1963-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.1963-2A>C)	.	.	0.999989917668626	0.926
18	19423090	A	G	18	21843129	y	y	splicing	MIB1(NM_020774:exon14:c.1963-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.1963-2A>G)	.	.	0.999989917668626	0.928
18	19423090	A	T	18	21843129	y	y	splicing	MIB1(NM_020774:exon14:c.1963-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.1963-2A>T)	.	.	0.999989917668626	0.928
18	19423091	G	A	18	21843130	y	y	splicing	MIB1(NM_020774:exon14:c.1963-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.1963-1G>A)	.	.	0.999986675681007	0.94
18	19423091	G	C	18	21843130	y	y	splicing	MIB1(NM_020774:exon14:c.1963-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.1963-1G>C)	.	.	0.999986675681007	0.94
18	19423091	G	T	18	21843130	y	y	splicing	MIB1(NM_020774:exon14:c.1963-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.1963-1G>T)	.	.	0.999986675681007	0.94
18	19423092	G	A	18	21843131	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G1963A:p.G655S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G1963A:p.G655S;	0.997399418460663	0.908
18	19423092	G	C	18	21843131	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G1963C:p.G655R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G1963C:p.G655R;	0.998997357169119	0.952
18	19423092	G	T	18	21843131	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G1963T:p.G655C;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G1963T:p.G655C;	0.998879250022263	0.966
18	19423093	G	A	18	21843132	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G1964A:p.G655D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G1964A:p.G655D;	0.97053039094997	0.832
18	19423093	G	C	18	21843132	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G1964C:p.G655A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G1964C:p.G655A;	0.976108645987679	0.842
18	19423093	G	T	18	21843132	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G1964T:p.G655V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G1964T:p.G655V;	0.976530134794466	0.878
18	19423176	A	C	18	21843215	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon14:c.A2047C:p.R683R;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.A2047C:p.R683R;	2.79042267220377E-4	0.012
18	19423176	A	G	18	21843215	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.A2047G:p.R683G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.A2047G:p.R683G;	0.0606077169581608	0.314
18	19423176	A	T	18	21843215	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.A2047T:p.R683W;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.A2047T:p.R683W;	0.619083400221753	0.566
18	19423177	G	A	18	21843216	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G2048A:p.R683K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G2048A:p.R683K;	0.00790423253963568	0.092
18	19423177	G	C	18	21843216	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G2048C:p.R683T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G2048C:p.R683T;	0.989520859844826	0.868
18	19423177	G	T	18	21843216	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G2048T:p.R683M;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G2048T:p.R683M;	0.993539793210363	0.914
18	19423178	G	A	18	21843217	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon14:c.G2049A:p.R683R;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G2049A:p.R683R;	0.999984219884943	0.998
18	19423178	G	C	18	21843217	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G2049C:p.R683S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G2049C:p.R683S;	0.999995813296176	1.0
18	19423178	G	T	18	21843217	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon14:c.G2049T:p.R683S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon14:c.G2049T:p.R683S;	0.99997860120717	1.0
18	19423179	G	A	18	21843218	y	y	splicing	MIB1(NM_020774:exon14:c.2049+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.2049+1G>A)	.	.	0.999984967332678	0.946
18	19423179	G	C	18	21843218	y	y	splicing	MIB1(NM_020774:exon14:c.2049+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.2049+1G>C)	.	.	0.999984967332678	0.946
18	19423179	G	T	18	21843218	y	y	splicing	MIB1(NM_020774:exon14:c.2049+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.2049+1G>T)	.	.	0.999984967332678	0.946
18	19423180	T	A	18	21843219	y	y	splicing	MIB1(NM_020774:exon14:c.2049+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.2049+2T>A)	.	.	0.999988624979899	0.938
18	19423180	T	C	18	21843219	y	y	splicing	MIB1(NM_020774:exon14:c.2049+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.2049+2T>C)	.	.	0.999888611547941	0.908
18	19423180	T	G	18	21843219	y	y	splicing	MIB1(NM_020774:exon14:c.2049+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon14:c.2049+2T>G)	.	.	0.999988624979899	0.938
18	19423181	A	C	18	21843220	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999898362425774	0.966
18	19423181	A	G	18	21843220	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999736712355534	0.952
18	19423181	A	T	18	21843220	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999918775089403	0.984
18	19423182	A	C	18	21843221	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.993943966964192	0.776
18	19423182	A	G	18	21843221	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999694545824091	0.918
18	19423182	A	T	18	21843221	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.943237295693076	0.702
18	19423183	A	C	18	21843222	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.24564872939764E-5	0.104
18	19423183	A	G	18	21843222	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.71382013512842E-5	0.168
18	19423183	A	T	18	21843222	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.34061430445625E-5	0.054
18	19423184	G	A	18	21843223	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0561621408535604	0.178
18	19423184	G	C	18	21843223	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0430793539193389	0.268
18	19423184	G	T	18	21843223	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00293496833372583	0.156
18	19423185	T	A	18	21843224	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.63114732726001E-4	0.154
18	19423185	T	C	18	21843224	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.63114732726001E-4	0.006
18	19423185	T	G	18	21843224	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.63114732726001E-4	0.01
18	19423186	A	C	18	21843225	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.10099529046664E-4	0.002
18	19423186	A	G	18	21843225	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.10099529046664E-4	0.002
18	19423186	A	T	18	21843225	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.16786676788848E-5	0.012
18	19424041	T	A	18	21844080	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.812896953111832	0.468
18	19424041	T	C	18	21844080	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.175584247869364	0.308
18	19424041	T	G	18	21844080	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.587649892431449	0.444
18	19424042	T	A	18	21844081	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.13939358124345	0.328
18	19424042	T	C	18	21844081	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0326419132886154	0.108
18	19424042	T	G	18	21844081	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0805384010733208	0.27
18	19424043	T	A	18	21844082	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0621593606160627	0.266
18	19424043	T	C	18	21844082	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00484348376219168	0.028
18	19424043	T	G	18	21844082	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0209625109256341	0.202
18	19424044	C	A	18	21844083	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00408783103643449	0.086
18	19424044	C	G	18	21844083	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00791475292489871	0.14
18	19424044	C	T	18	21844083	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.86550137960791E-4	0.154
18	19424045	T	A	18	21844084	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.96994017393179E-4	0.024
18	19424045	T	C	18	21844084	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.02721183114511E-5	0.0
18	19424045	T	G	18	21844084	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.47170355980117E-4	0.014
18	19424046	C	A	18	21844085	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00289077003478091	0.072
18	19424046	C	G	18	21844085	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00101061552865287	0.12
18	19424046	C	T	18	21844085	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.37790471585121E-4	0.0
18	19424047	T	A	18	21844086	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0361229078411135	0.14
18	19424047	T	C	18	21844086	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.26681656597449E-4	0.038
18	19424047	T	G	18	21844086	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0314261558732475	0.156
18	19424048	T	A	18	21844087	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.445673336269274	0.434
18	19424048	T	C	18	21844087	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.012264487579428	0.156
18	19424048	T	G	18	21844087	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.399962764766806	0.44
18	19424049	T	A	18	21844088	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.8197331471963E-4	0.018
18	19424049	T	C	18	21844088	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.00753667262576E-5	0.0
18	19424049	T	G	18	21844088	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.74359410097662E-4	0.004
18	19424050	T	A	18	21844089	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00547603839641325	0.176
18	19424050	T	C	18	21844089	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.24523195274385E-4	0.004
18	19424050	T	G	18	21844089	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99462831836059	0.71
18	19424051	A	C	18	21844090	y	y	splicing	MIB1(NM_020774:exon15:c.2050-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2050-2A>C)	.	.	0.999988247793601	0.928
18	19424051	A	G	18	21844090	y	y	splicing	MIB1(NM_020774:exon15:c.2050-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2050-2A>G)	.	.	0.999988247793601	0.928
18	19424051	A	T	18	21844090	y	y	splicing	MIB1(NM_020774:exon15:c.2050-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2050-2A>T)	.	.	0.999988247793601	0.928
18	19424052	G	A	18	21844091	y	y	splicing	MIB1(NM_020774:exon15:c.2050-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2050-1G>A)	.	.	0.999986675681007	0.934
18	19424052	G	C	18	21844091	y	y	splicing	MIB1(NM_020774:exon15:c.2050-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2050-1G>C)	.	.	0.999986675681007	0.934
18	19424052	G	T	18	21844091	y	y	splicing	MIB1(NM_020774:exon15:c.2050-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2050-1G>T)	.	.	0.999986675681007	0.934
18	19424053	C	A	18	21844092	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.C2050A:p.L684I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.C2050A:p.L684I;	0.938264987679309	0.786
18	19424053	C	G	18	21844092	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.C2050G:p.L684V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.C2050G:p.L684V;	0.941196261991489	0.72
18	19424053	C	T	18	21844092	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.C2050T:p.L684F;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.C2050T:p.L684F;	0.994192672241109	0.928
18	19424054	T	A	18	21844093	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.T2051A:p.L684H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.T2051A:p.L684H;	0.295158971708337	0.476
18	19424054	T	C	18	21844093	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.T2051C:p.L684P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.T2051C:p.L684P;	0.347560322686727	0.478
18	19424054	T	G	18	21844093	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.T2051G:p.L684R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.T2051G:p.L684R;	0.28334583171132	0.512
18	19424212	A	C	18	21844251	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.A2209C:p.T737P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.A2209C:p.T737P;	0.0200136876852165	0.25
18	19424212	A	G	18	21844251	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.A2209G:p.T737A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.A2209G:p.T737A;	0.0152122694970045	0.2
18	19424212	A	T	18	21844251	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.A2209T:p.T737S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.A2209T:p.T737S;	0.0157536206420898	0.158
18	19424213	C	A	18	21844252	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.C2210A:p.T737K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.C2210A:p.T737K;	0.946291749800322	0.704
18	19424213	C	G	18	21844252	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.C2210G:p.T737R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.C2210G:p.T737R;	0.978283156318359	0.794
18	19424213	C	T	18	21844252	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon15:c.C2210T:p.T737M;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.C2210T:p.T737M;	0.991000580259707	0.77
18	19424214	G	A	18	21844253	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon15:c.G2211A:p.T737T;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.G2211A:p.T737T;	0.7601766128536	0.684
18	19424214	G	C	18	21844253	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon15:c.G2211C:p.T737T;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.G2211C:p.T737T;	0.78830646296538	0.606
18	19424214	G	T	18	21844253	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon15:c.G2211T:p.T737T;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon15:c.G2211T:p.T737T;	0.74427933584154	0.672
18	19424215	G	A	18	21844254	y	y	splicing	MIB1(NM_020774:exon15:c.2211+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2211+1G>A)	.	.	0.999986675681007	0.934
18	19424215	G	C	18	21844254	y	y	splicing	MIB1(NM_020774:exon15:c.2211+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2211+1G>C)	.	.	0.999986675681007	0.934
18	19424215	G	T	18	21844254	y	y	splicing	MIB1(NM_020774:exon15:c.2211+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2211+1G>T)	.	.	0.999986675681007	0.934
18	19424216	T	A	18	21844255	y	y	splicing	MIB1(NM_020774:exon15:c.2211+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2211+2T>A)	.	.	0.999988247793601	0.928
18	19424216	T	C	18	21844255	y	y	splicing	MIB1(NM_020774:exon15:c.2211+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2211+2T>C)	.	.	0.999943260809542	0.87
18	19424216	T	G	18	21844255	y	y	splicing	MIB1(NM_020774:exon15:c.2211+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon15:c.2211+2T>G)	.	.	0.999988247793601	0.928
18	19424217	G	A	18	21844256	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.93351586074387E-5	0.0
18	19424217	G	C	18	21844256	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.103223207945076	0.344
18	19424217	G	T	18	21844256	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0972551191867766	0.346
18	19424218	A	C	18	21844257	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.273393463904795	0.338
18	19424218	A	G	18	21844257	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.6378909277698	0.436
18	19424218	A	T	18	21844257	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.935793845167389	0.542
18	19424219	G	A	18	21844258	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999732051430506	0.932
18	19424219	G	C	18	21844258	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99801952496845	0.918
18	19424219	G	T	18	21844258	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998734182880723	0.87
18	19424220	T	A	18	21844259	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0466794977958605	0.316
18	19424220	T	C	18	21844259	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00957243088733491	0.228
18	19424220	T	G	18	21844259	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00378825255558271	0.234
18	19424221	A	C	18	21844260	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.91607902234533E-4	0.002
18	19424221	A	G	18	21844260	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67117520130901E-4	0.002
18	19424221	A	T	18	21844260	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.67199765429517E-4	0.0
18	19424222	A	C	18	21844261	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.47480053014676E-4	0.0
18	19424222	A	G	18	21844261	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.32125269285996E-4	0.0
18	19424222	A	T	18	21844261	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.47480053014676E-4	0.028
18	19426893	A	C	18	21846932	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.45882143962626E-4	0.002
18	19426893	A	G	18	21846932	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.25067938151761E-4	0.014
18	19426893	A	T	18	21846932	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.39235694124006E-4	0.034
18	19426894	T	A	18	21846933	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998034150888809	0.866
18	19426894	T	C	18	21846933	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.564125329792822	0.374
18	19426894	T	G	18	21846933	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999962458860242	0.964
18	19426895	T	A	18	21846934	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.074985230140553	0.522
18	19426895	T	C	18	21846934	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.31634206883225E-4	0.008
18	19426895	T	G	18	21846934	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.344572623519208	0.562
18	19426896	T	A	18	21846935	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.984210222363866	0.714
18	19426896	T	C	18	21846935	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0587004885588115	0.362
18	19426896	T	G	18	21846935	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.986357564786661	0.674
18	19426897	T	A	18	21846936	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00262091707020396	0.064
18	19426897	T	C	18	21846936	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.82878579573869E-5	0.002
18	19426897	T	G	18	21846936	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00551767815066785	0.112
18	19426898	A	C	18	21846937	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.64892975349954E-5	0.0
18	19426898	A	G	18	21846937	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.03377422662518E-5	0.0
18	19426898	A	T	18	21846937	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.0925521971213E-5	0.0
18	19426899	T	A	18	21846938	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.954155747150127	0.596
18	19426899	T	C	18	21846938	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00542072390723137	0.062
18	19426899	T	G	18	21846938	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999960855343218	0.964
18	19426900	T	A	18	21846939	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999849539944655	0.94
18	19426900	T	C	18	21846939	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0497131308293725	0.172
18	19426900	T	G	18	21846939	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.718063956968441	0.584
18	19426901	G	A	18	21846940	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.57281304002413E-5	0.014
18	19426901	G	C	18	21846940	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.85547433169704E-5	0.006
18	19426901	G	T	18	21846940	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.99298615364769E-5	0.008
18	19426902	C	A	18	21846941	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.987359562906942	0.684
18	19426902	C	G	18	21846941	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999890909347021	0.918
18	19426902	C	T	18	21846941	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00938590196244435	0.124
18	19426903	A	C	18	21846942	y	y	splicing	MIB1(NM_020774:exon16:c.2212-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2212-2A>C)	.	.	0.999989917668626	0.928
18	19426903	A	G	18	21846942	y	y	splicing	MIB1(NM_020774:exon16:c.2212-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2212-2A>G)	.	.	0.999989917668626	0.928
18	19426903	A	T	18	21846942	y	y	splicing	MIB1(NM_020774:exon16:c.2212-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2212-2A>T)	.	.	0.999989917668626	0.928
18	19426904	G	A	18	21846943	y	y	splicing	MIB1(NM_020774:exon16:c.2212-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2212-1G>A)	.	.	0.999981760802075	0.94
18	19426904	G	C	18	21846943	y	y	splicing	MIB1(NM_020774:exon16:c.2212-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2212-1G>C)	.	.	0.999981760802075	0.94
18	19426904	G	T	18	21846943	y	y	splicing	MIB1(NM_020774:exon16:c.2212-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2212-1G>T)	.	.	0.999981760802075	0.94
18	19426905	T	A	18	21846944	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.T2212A:p.L738I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.T2212A:p.L738I;	6.29742842572284E-4	0.35
18	19426905	T	C	18	21846944	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon16:c.T2212C:p.L738L;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.T2212C:p.L738L;	8.84628060434548E-5	0.02
18	19426905	T	G	18	21846944	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.T2212G:p.L738V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.T2212G:p.L738V;	0.001850000137817	0.276
18	19426906	T	A	18	21846945	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon16:c.T2213A:p.L738X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon16:c.T2213A:p.L738X;	0.245946155512763	0.588
18	19426906	T	C	18	21846945	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.T2213C:p.L738S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.T2213C:p.L738S;	0.109326220529183	0.53
18	19426906	T	G	18	21846945	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon16:c.T2213G:p.L738X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon16:c.T2213G:p.L738X;	0.176862345288341	0.598
18	19427084	C	A	18	21847123	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon16:c.C2391A:p.V797V;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.C2391A:p.V797V;	0.010727460206187	0.146
18	19427084	C	G	18	21847123	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon16:c.C2391G:p.V797V;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.C2391G:p.V797V;	0.139303680866275	0.28
18	19427084	C	T	18	21847123	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon16:c.C2391T:p.V797V;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.C2391T:p.V797V;	0.991211505187235	0.792
18	19427085	A	C	18	21847124	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.A2392C:p.S798R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.A2392C:p.S798R;	0.999915124528393	0.998
18	19427085	A	G	18	21847124	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.A2392G:p.S798G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.A2392G:p.S798G;	0.999915418585255	0.982
18	19427085	A	T	18	21847124	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.A2392T:p.S798C;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.A2392T:p.S798C;	0.999911401846994	0.998
18	19427086	G	A	18	21847125	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.G2393A:p.S798N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.G2393A:p.S798N;	0.999992223064508	1.0
18	19427086	G	C	18	21847125	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.G2393C:p.S798T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.G2393C:p.S798T;	0.999995833460323	1.0
18	19427086	G	T	18	21847125	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon16:c.G2393T:p.S798I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon16:c.G2393T:p.S798I;	0.999987469944553	1.0
18	19427087	G	A	18	21847126	y	y	splicing	MIB1(NM_020774:exon16:c.2393+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2393+1G>A)	.	.	0.999981760802075	0.944
18	19427087	G	C	18	21847126	y	y	splicing	MIB1(NM_020774:exon16:c.2393+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2393+1G>C)	.	.	0.999981760802075	0.944
18	19427087	G	T	18	21847126	y	y	splicing	MIB1(NM_020774:exon16:c.2393+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2393+1G>T)	.	.	0.999981760802075	0.944
18	19427088	T	A	18	21847127	y	y	splicing	MIB1(NM_020774:exon16:c.2393+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2393+2T>A)	.	.	0.999989917668626	0.93
18	19427088	T	C	18	21847127	y	y	splicing	MIB1(NM_020774:exon16:c.2393+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2393+2T>C)	.	.	0.993179459523591	0.664
18	19427088	T	G	18	21847127	y	y	splicing	MIB1(NM_020774:exon16:c.2393+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon16:c.2393+2T>G)	.	.	0.999989917668626	0.93
18	19427089	T	A	18	21847128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.48001510603257E-4	0.098
18	19427089	T	C	18	21847128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.98931715918221E-4	0.098
18	19427089	T	G	18	21847128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.24486744525873E-5	0.088
18	19427090	T	A	18	21847129	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.26226239560682E-5	0.024
18	19427090	T	C	18	21847129	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.41179135755478E-4	0.112
18	19427090	T	G	18	21847129	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.12160671340573E-5	0.078
18	19427091	G	A	18	21847130	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999752130369246	0.89
18	19427091	G	C	18	21847130	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999975626060327	0.982
18	19427091	G	T	18	21847130	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.9991875628852	0.93
18	19427092	T	A	18	21847131	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.924766634034982	0.532
18	19427092	T	C	18	21847131	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.972401250704477	0.66
18	19427092	T	G	18	21847131	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.348092769179274	0.486
18	19427093	A	C	18	21847132	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.32192340557232E-4	0.024
18	19427093	A	G	18	21847132	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00101507424431552	0.156
18	19427093	A	T	18	21847132	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00110970619002177	0.112
18	19427094	T	A	18	21847133	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.76175937421613E-4	0.04
18	19427094	T	C	18	21847133	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.62996730486208E-4	0.062
18	19427094	T	G	18	21847133	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.30262220536974E-4	0.028
18	19429145	T	A	18	21849184	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00583512409143154	0.154
18	19429145	T	C	18	21849184	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00108889977218767	0.066
18	19429145	T	G	18	21849184	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00190972691268889	0.192
18	19429146	T	A	18	21849185	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.955634720912755	0.728
18	19429146	T	C	18	21849185	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.257701607536263	0.464
18	19429146	T	G	18	21849185	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.846376820319518	0.64
18	19429147	C	A	18	21849186	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00440416411457656	0.234
18	19429147	C	G	18	21849186	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.75346793070495E-4	0.072
18	19429147	C	T	18	21849186	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.42044163980952E-5	0.002
18	19429148	T	A	18	21849187	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.247710214594449	0.346
18	19429148	T	C	18	21849187	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00511932092590034	0.096
18	19429148	T	G	18	21849187	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0595089146838742	0.202
18	19429149	T	A	18	21849188	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00734858932881518	0.152
18	19429149	T	C	18	21849188	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.03369627463848E-4	0.008
18	19429149	T	G	18	21849188	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00523304116770892	0.144
18	19429150	T	A	18	21849189	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0629114710145803	0.118
18	19429150	T	C	18	21849189	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.41070045600444E-4	0.02
18	19429150	T	G	18	21849189	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.018539600905821	0.1
18	19429151	T	A	18	21849190	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.35574269370419E-4	0.134
18	19429151	T	C	18	21849190	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.0694951515692E-4	0.08
18	19429151	T	G	18	21849190	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.99973838966333E-4	0.13
18	19429152	A	C	18	21849191	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.64661152915477E-6	0.0
18	19429152	A	G	18	21849191	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.93924755437644E-4	0.068
18	19429152	A	T	18	21849191	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.65877083759684E-5	0.022
18	19429153	T	A	18	21849192	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.49240384135893E-5	0.0
18	19429153	T	C	18	21849192	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.23129595401204E-4	0.002
18	19429153	T	G	18	21849192	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999729630816168	0.996
18	19429154	T	A	18	21849193	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.273845327142733	0.5
18	19429154	T	C	18	21849193	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.25248690678114E-4	0.02
18	19429154	T	G	18	21849193	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99790511861105	0.666
18	19429155	A	C	18	21849194	y	y	splicing	MIB1(NM_020774:exon17:c.2394-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2394-2A>C)	.	.	0.999989917668626	0.926
18	19429155	A	G	18	21849194	y	y	splicing	MIB1(NM_020774:exon17:c.2394-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2394-2A>G)	.	.	0.999989917668626	0.926
18	19429155	A	T	18	21849194	y	y	splicing	MIB1(NM_020774:exon17:c.2394-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2394-2A>T)	.	.	0.999989917668626	0.928
18	19429156	G	A	18	21849195	y	y	splicing	MIB1(NM_020774:exon17:c.2394-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2394-1G>A)	.	.	0.999986675681007	0.94
18	19429156	G	C	18	21849195	y	y	splicing	MIB1(NM_020774:exon17:c.2394-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2394-1G>C)	.	.	0.999986675681007	0.94
18	19429156	G	T	18	21849195	y	y	splicing	MIB1(NM_020774:exon17:c.2394-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2394-1G>T)	.	.	0.999986675681007	0.94
18	19429157	T	A	18	21849196	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.T2394A:p.S798R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.T2394A:p.S798R;	2.48028661717839E-4	0.06
18	19429157	T	C	18	21849196	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon17:c.T2394C:p.S798S;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.T2394C:p.S798S;	4.86923494438581E-5	0.012
18	19429157	T	G	18	21849196	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.T2394G:p.S798R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.T2394G:p.S798R;	0.00180234927109384	0.164
18	19429158	G	A	18	21849197	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.G2395A:p.G799S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.G2395A:p.G799S;	0.565709102698559	0.46
18	19429158	G	C	18	21849197	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.G2395C:p.G799R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.G2395C:p.G799R;	0.845686627605707	0.632
18	19429158	G	T	18	21849197	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.G2395T:p.G799C;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.G2395T:p.G799C;	0.980483923000852	0.782
18	19429347	A	C	18	21849386	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.A2584C:p.K862Q;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.A2584C:p.K862Q;	0.527231467837322	0.502
18	19429347	A	G	18	21849386	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.A2584G:p.K862E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.A2584G:p.K862E;	0.00770945381192571	0.108
18	19429347	A	T	18	21849386	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon17:c.A2584T:p.K862X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon17:c.A2584T:p.K862X;	0.923821477267103	0.658
18	19429348	A	C	18	21849387	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.A2585C:p.K862T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.A2585C:p.K862T;	0.984841049624495	0.896
18	19429348	A	G	18	21849387	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.A2585G:p.K862R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.A2585G:p.K862R;	0.992022503096778	0.922
18	19429348	A	T	18	21849387	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.A2585T:p.K862M;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.A2585T:p.K862M;	0.991886109609795	0.728
18	19429349	G	A	18	21849388	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon17:c.G2586A:p.K862K;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.G2586A:p.K862K;	0.999491656120014	0.962
18	19429349	G	C	18	21849388	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.G2586C:p.K862N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.G2586C:p.K862N;	0.999953409081508	0.974
18	19429349	G	T	18	21849388	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon17:c.G2586T:p.K862N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon17:c.G2586T:p.K862N;	0.999965810673216	0.976
18	19429350	G	A	18	21849389	y	y	splicing	MIB1(NM_020774:exon17:c.2586+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2586+1G>A)	.	.	0.999986675681007	0.94
18	19429350	G	C	18	21849389	y	y	splicing	MIB1(NM_020774:exon17:c.2586+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2586+1G>C)	.	.	0.999986675681007	0.94
18	19429350	G	T	18	21849389	y	y	splicing	MIB1(NM_020774:exon17:c.2586+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2586+1G>T)	.	.	0.999986675681007	0.94
18	19429351	T	A	18	21849390	y	y	splicing	MIB1(NM_020774:exon17:c.2586+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2586+2T>A)	.	.	0.999989917668626	0.928
18	19429351	T	C	18	21849390	y	y	splicing	MIB1(NM_020774:exon17:c.2586+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2586+2T>C)	.	.	0.994485838132979	0.64
18	19429351	T	G	18	21849390	y	y	splicing	MIB1(NM_020774:exon17:c.2586+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon17:c.2586+2T>G)	.	.	0.999989917668626	0.928
18	19429352	A	C	18	21849391	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.947909776559002	0.636
18	19429352	A	G	18	21849391	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0271959548045346	0.192
18	19429352	A	T	18	21849391	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.972715582164504	0.588
18	19429353	A	C	18	21849392	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0863412489335931	0.332
18	19429353	A	G	18	21849392	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.234704296215405	0.392
18	19429353	A	T	18	21849392	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0736571398142176	0.33
18	19429354	G	A	18	21849393	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.443072360146032	0.42
18	19429354	G	C	18	21849393	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.186424562363234	0.464
18	19429354	G	T	18	21849393	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.246572202677082	0.352
18	19429355	A	C	18	21849394	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.94979565334001E-5	0.004
18	19429355	A	G	18	21849394	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.82198285502821E-6	0.0
18	19429355	A	T	18	21849394	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.73545616243263E-5	0.008
18	19429356	T	A	18	21849395	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.44276443339962E-5	0.0
18	19429356	T	C	18	21849395	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.44276443339962E-5	0.0
18	19429356	T	G	18	21849395	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.44276443339962E-5	0.0
18	19429357	A	C	18	21849396	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.58992702814738E-5	0.0
18	19429357	A	G	18	21849396	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.14668474105321E-5	0.0
18	19429357	A	T	18	21849396	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.78158737906031E-5	0.0
18	19433089	C	A	18	21853128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.52758983853285E-4	0.032
18	19433089	C	G	18	21853128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.19734165747846E-5	0.03
18	19433089	C	T	18	21853128	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.94106535121608E-5	0.006
18	19433090	T	A	18	21853129	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00329998614304868	0.226
18	19433090	T	C	18	21853129	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00273460277475925	0.046
18	19433090	T	G	18	21853129	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00108537012569196	0.158
18	19433091	T	A	18	21853130	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.47937166404398E-4	0.07
18	19433091	T	C	18	21853130	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.42021926905041E-5	0.0
18	19433091	T	G	18	21853130	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.77761490867682E-4	0.106
18	19433092	T	A	18	21853131	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.32519981184172E-4	0.074
18	19433092	T	C	18	21853131	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.1717209451825E-4	0.01
18	19433092	T	G	18	21853131	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.32301787280023E-4	0.084
18	19433093	T	A	18	21853132	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.34840981330655E-4	0.03
18	19433093	T	C	18	21853132	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.18813352204928E-5	0.0
18	19433093	T	G	18	21853132	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.303755527101E-4	0.042
18	19433094	T	A	18	21853133	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.78756178213797E-4	0.048
18	19433094	T	C	18	21853133	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.43790397187297E-5	0.0
18	19433094	T	G	18	21853133	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.09360406183298E-5	0.004
18	19433095	C	A	18	21853134	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.5452103276424E-4	0.122
18	19433095	C	G	18	21853134	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0014394131173846	0.156
18	19433095	C	T	18	21853134	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.16354224533364E-4	0.008
18	19433096	T	A	18	21853135	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.35437635262977E-4	0.108
18	19433096	T	C	18	21853135	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.48136588221007E-5	0.012
18	19433096	T	G	18	21853135	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.48860396361933E-4	0.09
18	19433097	A	C	18	21853136	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.30882971891617E-5	0.0
18	19433097	A	G	18	21853136	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.33141600191487E-5	0.002
18	19433097	A	T	18	21853136	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.22844179295865E-5	0.0
18	19433098	T	A	18	21853137	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.17900252928756E-4	0.052
18	19433098	T	C	18	21853137	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.71751367734741E-5	0.0
18	19433098	T	G	18	21853137	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.769961403912992	0.524
18	19433099	A	C	18	21853138	y	y	splicing	MIB1(NM_020774:exon18:c.2587-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2587-2A>C)	.	.	0.999988247793601	0.926
18	19433099	A	G	18	21853138	y	y	splicing	MIB1(NM_020774:exon18:c.2587-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2587-2A>G)	.	.	0.999988247793601	0.926
18	19433099	A	T	18	21853138	y	y	splicing	MIB1(NM_020774:exon18:c.2587-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2587-2A>T)	.	.	0.999988247793601	0.914
18	19433100	G	A	18	21853139	y	y	splicing	MIB1(NM_020774:exon18:c.2587-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2587-1G>A)	.	.	0.999958765223542	0.902
18	19433100	G	C	18	21853139	y	y	splicing	MIB1(NM_020774:exon18:c.2587-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2587-1G>C)	.	.	0.999923664995687	0.898
18	19433100	G	T	18	21853139	y	y	splicing	MIB1(NM_020774:exon18:c.2587-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2587-1G>T)	.	.	0.999923664995687	0.902
18	19433101	A	C	18	21853140	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2587C:p.I863L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2587C:p.I863L;	3.65606733688719E-4	0.086
18	19433101	A	G	18	21853140	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2587G:p.I863V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2587G:p.I863V;	1.52105458369988E-5	0.014
18	19433101	A	T	18	21853140	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2587T:p.I863F;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2587T:p.I863F;	0.0015370308293354	0.094
18	19433102	T	A	18	21853141	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.T2588A:p.I863N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.T2588A:p.I863N;	0.317601854959383	0.448
18	19433102	T	C	18	21853141	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.T2588C:p.I863T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.T2588C:p.I863T;	0.0312140071063363	0.23
18	19433102	T	G	18	21853141	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.T2588G:p.I863S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.T2588G:p.I863S;	0.390590902625898	0.47
18	19433177	A	C	18	21853216	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2663C:p.E888A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2663C:p.E888A;	0.823870960444377	0.604
18	19433177	A	G	18	21853216	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2663G:p.E888G;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2663G:p.E888G;	0.353646278231119	0.462
18	19433177	A	T	18	21853216	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2663T:p.E888V;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2663T:p.E888V;	0.940036493451881	0.564
18	19433178	G	A	18	21853217	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon18:c.G2664A:p.E888E;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.G2664A:p.E888E;	5.73311151826695E-4	0.056
18	19433178	G	C	18	21853217	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.G2664C:p.E888D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.G2664C:p.E888D;	0.0168709142072714	0.206
18	19433178	G	T	18	21853217	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.G2664T:p.E888D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.G2664T:p.E888D;	0.0434394389283152	0.262
18	19433179	A	C	18	21853218	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2665C:p.N889H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2665C:p.N889H;	0.267155795052504	0.702
18	19433179	A	G	18	21853218	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2665G:p.N889D;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2665G:p.N889D;	0.107837366306772	0.238
18	19433179	A	T	18	21853218	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon18:c.A2665T:p.N889Y;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon18:c.A2665T:p.N889Y;	0.84735488364265	0.568
18	19433180	G	A	18	21853219	y	y	splicing	MIB1(NM_020774:exon18:c.2665+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2665+1G>A)	.	.	0.999989072007339	0.934
18	19433180	G	C	18	21853219	y	y	splicing	MIB1(NM_020774:exon18:c.2665+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2665+1G>C)	.	.	0.999989072007339	0.934
18	19433180	G	T	18	21853219	y	y	splicing	MIB1(NM_020774:exon18:c.2665+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2665+1G>T)	.	.	0.999989072007339	0.934
18	19433181	T	A	18	21853220	y	y	splicing	MIB1(NM_020774:exon18:c.2665+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2665+2T>A)	.	.	0.999988247793601	0.93
18	19433181	T	C	18	21853220	y	y	splicing	MIB1(NM_020774:exon18:c.2665+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2665+2T>C)	.	.	0.994359181757974	0.69
18	19433181	T	G	18	21853220	y	y	splicing	MIB1(NM_020774:exon18:c.2665+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon18:c.2665+2T>G)	.	.	0.999988247793601	0.93
18	19433182	A	C	18	21853221	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999862231966605	0.912
18	19433182	A	G	18	21853221	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.259148925431779	0.448
18	19433182	A	T	18	21853221	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999835060861366	0.948
18	19433183	A	C	18	21853222	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.916708129049812	0.648
18	19433183	A	G	18	21853222	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.973311656555967	0.862
18	19433183	A	T	18	21853222	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.979284284376109	0.802
18	19433184	G	A	18	21853223	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999971214631254	1.0
18	19433184	G	C	18	21853223	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999972798976155	0.988
18	19433184	G	T	18	21853223	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999972798976155	0.992
18	19433185	T	A	18	21853224	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.996255186109611	0.728
18	19433185	T	C	18	21853224	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.989078278015644	0.908
18	19433185	T	G	18	21853224	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.9970888207773	0.966
18	19433186	A	C	18	21853225	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.09774573448081E-5	0.006
18	19433186	A	G	18	21853225	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.13699567543885E-5	0.004
18	19433186	A	T	18	21853225	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.32111234284626E-4	0.0
18	19433187	G	A	18	21853226	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.56760320075576E-5	0.02
18	19433187	G	C	18	21853226	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.13477138611709E-5	0.054
18	19433187	G	T	18	21853226	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.56760320075576E-5	0.024
18	19437079	A	C	18	21857118	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.6753828867121E-4	0.134
18	19437079	A	G	18	21857118	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.59909426111197E-4	0.172
18	19437079	A	T	18	21857118	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.00860660887976E-4	0.138
18	19437080	C	A	18	21857119	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.231542151659649	0.238
18	19437080	C	G	18	21857119	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999629675470936	0.97
18	19437080	C	T	18	21857119	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0180566626465377	0.28
18	19437081	C	A	18	21857120	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99982061948904	0.906
18	19437081	C	G	18	21857120	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.06301098629194E-4	0.094
18	19437081	C	T	18	21857120	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.15941070656012E-4	0.19
18	19437082	G	A	18	21857121	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.43224644059322E-5	0.04
18	19437082	G	C	18	21857121	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.78595403485642E-5	0.052
18	19437082	G	T	18	21857121	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.57966502669417E-5	0.028
18	19437083	T	A	18	21857122	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0283730915355553	0.362
18	19437083	T	C	18	21857122	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.12817758938885E-4	0.0
18	19437083	T	G	18	21857122	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0115898177616655	0.234
18	19437084	T	A	18	21857123	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0377391553285766	0.202
18	19437084	T	C	18	21857123	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.32903827276187E-4	0.024
18	19437084	T	G	18	21857123	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0713352187033774	0.18
18	19437085	T	A	18	21857124	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.95842733324192	0.732
18	19437085	T	C	18	21857124	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00213233047921697	0.14
18	19437085	T	G	18	21857124	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.956406746921248	0.772
18	19437086	T	A	18	21857125	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.676036942555943	0.566
18	19437086	T	C	18	21857125	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0522872161513763	0.168
18	19437086	T	G	18	21857125	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.844611607781233	0.56
18	19437087	C	A	18	21857126	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.92287700572324E-5	0.0
18	19437087	C	G	18	21857126	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	9.44232714332375E-5	0.0
18	19437087	C	T	18	21857126	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.191707869965E-5	0.0
18	19437088	C	A	18	21857127	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.982174510972469	0.784
18	19437088	C	G	18	21857127	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999006693355537	0.912
18	19437088	C	T	18	21857127	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0119153647405307	0.068
18	19437089	A	C	18	21857128	y	y	splicing	MIB1(NM_020774:exon19:c.2666-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2666-2A>C)	.	.	0.999993519952936	0.928
18	19437089	A	G	18	21857128	y	y	splicing	MIB1(NM_020774:exon19:c.2666-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2666-2A>G)	.	.	0.999993519952936	0.928
18	19437089	A	T	18	21857128	y	y	splicing	MIB1(NM_020774:exon19:c.2666-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2666-2A>T)	.	.	0.999993519952936	0.928
18	19437090	G	A	18	21857129	y	y	splicing	MIB1(NM_020774:exon19:c.2666-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2666-1G>A)	.	.	0.999988247793601	0.934
18	19437090	G	C	18	21857129	y	y	splicing	MIB1(NM_020774:exon19:c.2666-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2666-1G>C)	.	.	0.999988247793601	0.934
18	19437090	G	T	18	21857129	y	y	splicing	MIB1(NM_020774:exon19:c.2666-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2666-1G>T)	.	.	0.999988247793601	0.934
18	19437091	A	C	18	21857130	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.A2666C:p.N889T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.A2666C:p.N889T;	0.534514362877429	0.566
18	19437091	A	G	18	21857130	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.A2666G:p.N889S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.A2666G:p.N889S;	0.00519431634091744	0.086
18	19437091	A	T	18	21857130	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.A2666T:p.N889I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.A2666T:p.N889I;	0.365391955190454	0.434
18	19437092	C	A	18	21857131	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.C2667A:p.N889K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.C2667A:p.N889K;	0.00208025950369452	0.102
18	19437092	C	G	18	21857131	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.C2667G:p.N889K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.C2667G:p.N889K;	7.38989491284827E-5	0.026
18	19437092	C	T	18	21857131	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon19:c.C2667T:p.N889N;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.C2667T:p.N889N;	0.00155221315237574	0.008
18	19437202	T	A	18	21857241	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.T2777A:p.I926N;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.T2777A:p.I926N;	0.00198032764942091	0.02
18	19437202	T	C	18	21857241	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.T2777C:p.I926T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.T2777C:p.I926T;	0.00141977909150359	0.02
18	19437202	T	G	18	21857241	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.T2777G:p.I926S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.T2777G:p.I926S;	8.47081331098425E-4	0.03
18	19437203	C	A	18	21857242	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon19:c.C2778A:p.I926I;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.C2778A:p.I926I;	5.78361161611742E-4	0.144
18	19437203	C	G	18	21857242	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.C2778G:p.I926M;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.C2778G:p.I926M;	0.00399540574178533	0.076
18	19437203	C	T	18	21857242	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon19:c.C2778T:p.I926I;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.C2778T:p.I926I;	0.00117705230568634	0.1
18	19437204	T	A	18	21857243	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.T2779A:p.S927T;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.T2779A:p.S927T;	0.00119215138995299	0.004
18	19437204	T	C	18	21857243	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.T2779C:p.S927P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.T2779C:p.S927P;	0.0205379469552345	0.368
18	19437204	T	G	18	21857243	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon19:c.T2779G:p.S927A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon19:c.T2779G:p.S927A;	0.00184902112677268	0.362
18	19437205	G	A	18	21857244	y	y	splicing	MIB1(NM_020774:exon19:c.2779+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2779+1G>A)	.	.	0.999988247793601	0.936
18	19437205	G	C	18	21857244	y	y	splicing	MIB1(NM_020774:exon19:c.2779+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2779+1G>C)	.	.	0.999988247793601	0.936
18	19437205	G	T	18	21857244	y	y	splicing	MIB1(NM_020774:exon19:c.2779+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2779+1G>T)	.	.	0.999988247793601	0.936
18	19437206	T	A	18	21857245	y	y	splicing	MIB1(NM_020774:exon19:c.2779+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2779+2T>A)	.	.	0.999993519952936	0.928
18	19437206	T	C	18	21857245	y	y	splicing	MIB1(NM_020774:exon19:c.2779+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2779+2T>C)	.	.	0.998448410791099	0.734
18	19437206	T	G	18	21857245	y	y	splicing	MIB1(NM_020774:exon19:c.2779+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon19:c.2779+2T>G)	.	.	0.999993519952936	0.928
18	19437207	A	C	18	21857246	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999717786787272	0.85
18	19437207	A	G	18	21857246	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00470489430061998	0.122
18	19437207	A	T	18	21857246	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999754028982209	0.87
18	19437208	A	C	18	21857247	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998847561583049	0.744
18	19437208	A	G	18	21857247	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999431529245211	0.866
18	19437208	A	T	18	21857247	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.992019137436266	0.744
18	19437209	G	A	18	21857248	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999974028389154	0.99
18	19437209	G	C	18	21857248	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999985348015312	0.974
18	19437209	G	T	18	21857248	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999979576468003	0.996
18	19437210	T	A	18	21857249	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.796104409603548	0.666
18	19437210	T	C	18	21857249	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.952886087337537	0.726
18	19437210	T	G	18	21857249	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.431816217535125	0.678
18	19437211	C	A	18	21857250	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.35629699199942E-5	0.0
18	19437211	C	G	18	21857250	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.10173801878394E-5	0.0
18	19437211	C	T	18	21857250	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.02379335407975E-5	0.0
18	19437212	G	A	18	21857251	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.99557054224804E-4	0.0
18	19437212	G	C	18	21857251	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.12549792797431E-5	0.0
18	19437212	G	T	18	21857251	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.12549792797431E-5	0.0
18	19438495	T	A	18	21858534	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0738834047890968	0.492
18	19438495	T	C	18	21858534	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0027567271907093	0.11
18	19438495	T	G	18	21858534	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999936837626301	0.976
18	19438496	C	A	18	21858535	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.70529344434343E-4	0.046
18	19438496	C	G	18	21858535	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.0618576004173E-4	0.042
18	19438496	C	T	18	21858535	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.51333873349873E-5	0.0
18	19438497	T	A	18	21858536	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.141482897958783	0.5
18	19438497	T	C	18	21858536	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0035839170128936	0.202
18	19438497	T	G	18	21858536	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.798634960924805	0.604
18	19438498	A	C	18	21858537	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.87413798334748E-5	0.0
18	19438498	A	G	18	21858537	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.12238579169283E-5	0.004
18	19438498	A	T	18	21858537	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67063169148275E-5	0.01
18	19438499	T	A	18	21858538	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0022783370912804	0.126
18	19438499	T	C	18	21858538	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.009264248885E-4	0.064
18	19438499	T	G	18	21858538	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.99773026941325	0.882
18	19438500	A	C	18	21858539	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.04328155583296E-5	0.008
18	19438500	A	G	18	21858539	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.90741420642307E-5	0.01
18	19438500	A	T	18	21858539	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.95963122867088E-5	0.054
18	19438501	T	A	18	21858540	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.468271530020727	0.484
18	19438501	T	C	18	21858540	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0016580758633984	0.08
18	19438501	T	G	18	21858540	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999927947654664	0.978
18	19438502	T	A	18	21858541	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.962732796902232	0.668
18	19438502	T	C	18	21858541	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0437800187937563	0.37
18	19438502	T	G	18	21858541	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.981923100608402	0.682
18	19438503	A	C	18	21858542	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.27210719829298E-5	0.07
18	19438503	A	G	18	21858542	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.88795242422292E-4	0.108
18	19438503	A	T	18	21858542	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.50347556052823E-4	0.008
18	19438504	T	A	18	21858543	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00255877302830367	0.222
18	19438504	T	C	18	21858543	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.55979638092419E-4	0.102
18	19438504	T	G	18	21858543	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.189155021670099	0.526
18	19438505	A	C	18	21858544	y	y	splicing	MIB1(NM_020774:exon20:c.2780-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2780-2A>C)	.	.	0.999988624979899	0.942
18	19438505	A	G	18	21858544	y	y	splicing	MIB1(NM_020774:exon20:c.2780-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2780-2A>G)	.	.	0.999988624979899	0.942
18	19438505	A	T	18	21858544	y	y	splicing	MIB1(NM_020774:exon20:c.2780-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2780-2A>T)	.	.	0.999988624979899	0.942
18	19438506	G	A	18	21858545	y	y	splicing	MIB1(NM_020774:exon20:c.2780-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2780-1G>A)	.	.	0.999984967332678	0.94
18	19438506	G	C	18	21858545	y	y	splicing	MIB1(NM_020774:exon20:c.2780-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2780-1G>C)	.	.	0.999984967332678	0.94
18	19438506	G	T	18	21858545	y	y	splicing	MIB1(NM_020774:exon20:c.2780-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2780-1G>T)	.	.	0.999984967332678	0.94
18	19438507	C	A	18	21858546	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon20:c.C2780A:p.S927X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon20:c.C2780A:p.S927X;	0.950657546807122	0.818
18	19438507	C	G	18	21858546	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon20:c.C2780G:p.S927X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon20:c.C2780G:p.S927X;	0.961993715634852	0.774
18	19438507	C	T	18	21858546	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon20:c.C2780T:p.S927L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.C2780T:p.S927L;	0.0708226802563297	0.33
18	19438508	A	C	18	21858547	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon20:c.A2781C:p.S927S;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.A2781C:p.S927S;	1.18973693080301E-4	0.014
18	19438508	A	G	18	21858547	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon20:c.A2781G:p.S927S;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.A2781G:p.S927S;	4.9001235176656E-5	0.036
18	19438508	A	T	18	21858547	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon20:c.A2781T:p.S927S;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.A2781T:p.S927S;	1.80343961308696E-5	0.002
18	19438605	C	A	18	21858644	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon20:c.C2878A:p.Q960K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.C2878A:p.Q960K;	0.908416658371327	0.774
18	19438605	C	G	18	21858644	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon20:c.C2878G:p.Q960E;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.C2878G:p.Q960E;	0.909706002155207	0.614
18	19438605	C	T	18	21858644	y	y	exonic	MIB1	stopgain SNV	MIB1:NM_020774:exon20:c.C2878T:p.Q960X;	exonic	ENSG00000101752	stopgain SNV	ENSG00000101752:ENST00000261537:exon20:c.C2878T:p.Q960X;	0.999608199877561	0.958
18	19438606	A	C	18	21858645	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon20:c.A2879C:p.Q960P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.A2879C:p.Q960P;	0.999918199219909	0.998
18	19438606	A	G	18	21858645	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon20:c.A2879G:p.Q960R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.A2879G:p.Q960R;	0.910356759509538	0.64
18	19438606	A	T	18	21858645	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon20:c.A2879T:p.Q960L;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.A2879T:p.Q960L;	0.999902405002735	0.998
18	19438607	G	A	18	21858646	y	y	exonic	MIB1	synonymous SNV	MIB1:NM_020774:exon20:c.G2880A:p.Q960Q;	exonic	ENSG00000101752	synonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.G2880A:p.Q960Q;	0.999979920413112	0.992
18	19438607	G	C	18	21858646	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon20:c.G2880C:p.Q960H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.G2880C:p.Q960H;	0.99999788250985	1.0
18	19438607	G	T	18	21858646	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon20:c.G2880T:p.Q960H;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon20:c.G2880T:p.Q960H;	0.999990846406755	1.0
18	19438608	G	A	18	21858647	y	y	splicing	MIB1(NM_020774:exon20:c.2880+1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2880+1G>A)	.	.	0.999986675681007	0.934
18	19438608	G	C	18	21858647	y	y	splicing	MIB1(NM_020774:exon20:c.2880+1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2880+1G>C)	.	.	0.999986675681007	0.934
18	19438608	G	T	18	21858647	y	y	splicing	MIB1(NM_020774:exon20:c.2880+1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2880+1G>T)	.	.	0.999986675681007	0.934
18	19438609	T	A	18	21858648	y	y	splicing	MIB1(NM_020774:exon20:c.2880+2T>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2880+2T>A)	.	.	0.999989917668626	0.928
18	19438609	T	C	18	21858648	y	y	splicing	MIB1(NM_020774:exon20:c.2880+2T>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2880+2T>C)	.	.	0.994485838132979	0.652
18	19438609	T	G	18	21858648	y	y	splicing	MIB1(NM_020774:exon20:c.2880+2T>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon20:c.2880+2T>G)	.	.	0.999989917668626	0.928
18	19438610	A	C	18	21858649	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999751464570361	0.948
18	19438610	A	G	18	21858649	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.94295566270016	0.76
18	19438610	A	T	18	21858649	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999903317017092	0.95
18	19438611	A	C	18	21858650	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.462918699386786	0.35
18	19438611	A	G	18	21858650	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.863884233998002	0.612
18	19438611	A	T	18	21858650	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.673006421804888	0.42
18	19438612	T	A	18	21858651	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.1289276356038E-4	0.006
18	19438612	T	C	18	21858651	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.08134810165924E-5	0.006
18	19438612	T	G	18	21858651	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	7.36044423584938E-5	0.016
18	19438613	A	C	18	21858652	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.02924680882781E-4	0.07
18	19438613	A	G	18	21858652	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.13247492668349E-4	0.002
18	19438613	A	T	18	21858652	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	5.76461524785294E-5	0.014
18	19438614	A	C	18	21858653	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.53085657222375E-5	0.0
18	19438614	A	G	18	21858653	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.57254507674651E-5	0.0
18	19438614	A	T	18	21858653	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.21861001154412E-4	0.0
18	19438615	T	A	18	21858654	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.585416616557E-5	0.0
18	19438615	T	C	18	21858654	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.52297880296295E-5	0.0
18	19438615	T	G	18	21858654	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.30477579161392E-5	0.0
18	19444475	C	A	18	21864514	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.845758626032881	0.658
18	19444475	C	G	18	21864514	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.868424299922812	0.65
18	19444475	C	T	18	21864514	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.873992889380815	0.694
18	19444476	T	A	18	21864515	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999770952213333	0.896
18	19444476	T	C	18	21864515	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.410252355970364	0.506
18	19444476	T	G	18	21864515	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.997564449882412	0.802
18	19444477	C	A	18	21864516	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.051429012671296	0.146
18	19444477	C	G	18	21864516	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.105130854383546	0.32
18	19444477	C	T	18	21864516	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.0325987715895067	0.314
18	19444478	A	C	18	21864517	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.67946662347176E-4	0.252
18	19444478	A	G	18	21864517	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.44723799987264E-4	0.204
18	19444478	A	T	18	21864517	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	2.18097877107387E-4	0.246
18	19444479	C	A	18	21864518	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	8.11140500808617E-4	0.062
18	19444479	C	G	18	21864518	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999733444710183	0.906
18	19444479	C	T	18	21864518	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.75363549614271E-5	0.004
18	19444480	A	C	18	21864519	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	3.83425708931872E-4	0.004
18	19444480	A	G	18	21864519	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	6.88014805598927E-5	0.006
18	19444480	A	T	18	21864519	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.56013978152585E-4	0.01
18	19444481	T	A	18	21864520	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.998718244827897	0.866
18	19444481	T	C	18	21864520	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.124769354249674	0.478
18	19444481	T	G	18	21864520	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999964746040603	0.964
18	19444482	T	A	18	21864521	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.996544942710413	0.81
18	19444482	T	C	18	21864521	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00151098533422783	0.076
18	19444482	T	G	18	21864521	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.994873180713812	0.838
18	19444483	A	C	18	21864522	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	1.0071467710125E-4	0.01
18	19444483	A	G	18	21864522	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.00132622942352222	0.282
18	19444483	A	T	18	21864522	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	4.2659972889456E-5	0.022
18	19444484	C	A	18	21864523	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999734117504427	0.962
18	19444484	C	G	18	21864523	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.999947954347296	0.97
18	19444484	C	T	18	21864523	y	y	intronic	MIB1	.	.	intronic	ENSG00000101752	.	.	0.994217016065388	0.372
18	19444485	A	C	18	21864524	y	y	splicing	MIB1(NM_020774:exon21:c.2881-2A>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon21:c.2881-2A>C)	.	.	0.999988247793601	0.93
18	19444485	A	G	18	21864524	y	y	splicing	MIB1(NM_020774:exon21:c.2881-2A>G)	.	.	splicing	ENSG00000101752(ENST00000261537:exon21:c.2881-2A>G)	.	.	0.999988247793601	0.93
18	19444485	A	T	18	21864524	y	y	splicing	MIB1(NM_020774:exon21:c.2881-2A>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon21:c.2881-2A>T)	.	.	0.999988247793601	0.93
18	19444486	G	A	18	21864525	y	y	splicing	MIB1(NM_020774:exon21:c.2881-1G>A)	.	.	splicing	ENSG00000101752(ENST00000261537:exon21:c.2881-1G>A)	.	.	0.999989072007339	0.934
18	19444486	G	C	18	21864525	y	y	splicing	MIB1(NM_020774:exon21:c.2881-1G>C)	.	.	splicing	ENSG00000101752(ENST00000261537:exon21:c.2881-1G>C)	.	.	0.999989072007339	0.934
18	19444486	G	T	18	21864525	y	y	splicing	MIB1(NM_020774:exon21:c.2881-1G>T)	.	.	splicing	ENSG00000101752(ENST00000261537:exon21:c.2881-1G>T)	.	.	0.999989072007339	0.934
18	19444487	A	C	18	21864526	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon21:c.A2881C:p.T961P;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon21:c.A2881C:p.T961P;	0.421174495736468	0.45
18	19444487	A	G	18	21864526	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon21:c.A2881G:p.T961A;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon21:c.A2881G:p.T961A;	0.061890970605708	0.188
18	19444487	A	T	18	21864526	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon21:c.A2881T:p.T961S;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon21:c.A2881T:p.T961S;	0.634931158004698	0.5
18	19444488	C	A	18	21864527	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon21:c.C2882A:p.T961K;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon21:c.C2882A:p.T961K;	0.992951027792936	0.812
18	19444488	C	G	18	21864527	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon21:c.C2882G:p.T961R;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon21:c.C2882G:p.T961R;	0.987176401168557	0.698
18	19444488	C	T	18	21864527	y	y	exonic	MIB1	nonsynonymous SNV	MIB1:NM_020774:exon21:c.C2882T:p.T961I;	exonic	ENSG00000101752	nonsynonymous SNV	ENSG00000101752:ENST00000261537:exon21:c.C2882T:p.T961I;	0.00514881935989056	0.072
18	19749641	G	A	18	22169680	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	3.89854362396389E-4	0.052
18	19749641	G	C	18	22169680	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	2.63937191249084E-4	0.022
18	19749641	G	T	18	22169680	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.0283189517270581	0.26
18	19749642	A	C	18	22169681	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.999896939202316	0.988
18	19749642	A	G	18	22169681	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.99990516220486	0.988
18	19749642	A	T	18	22169681	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.999955519055818	0.998
18	19749643	G	A	18	22169682	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.999995450308808	0.998
18	19749643	G	C	18	22169682	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.999995347509046	1.0
18	19749643	G	T	18	22169682	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.999978655476538	1.0
18	19749644	G	A	18	22169683	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999986741007567	0.936
18	19749644	G	C	18	22169683	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999986741007567	0.936
18	19749644	G	T	18	22169683	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999986741007567	0.936
18	19749645	T	A	18	22169684	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999992861718126	0.938
18	19749645	T	C	18	22169684	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999917063454139	0.91
18	19749645	T	G	18	22169684	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999992861718126	0.938
18	19749646	T	A	18	22169685	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.32104875132882	0.418
18	19749646	T	C	18	22169685	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.245648165494324	0.372
18	19749646	T	G	18	22169685	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.323437142631469	0.402
18	19749647	C	A	18	22169686	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.7348421764243E-4	0.078
18	19749647	C	G	18	22169686	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00164239197205779	0.14
18	19749647	C	T	18	22169686	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00638606121177949	0.102
18	19749648	G	A	18	22169687	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999987136764129	0.944
18	19749648	G	C	18	22169687	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999982467630166	0.99
18	19749648	G	T	18	22169687	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999990529589811	0.934
18	19749649	G	A	18	22169688	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00579388517294103	0.104
18	19749649	G	C	18	22169688	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	5.1323207927828E-4	0.13
18	19749649	G	T	18	22169688	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.41011497629673E-4	0.036
18	19749650	C	A	18	22169689	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.71544771528813E-4	0.016
18	19749650	C	G	18	22169689	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.4062236888538E-4	0.016
18	19749650	C	T	18	22169689	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.23573086980481E-4	0.024
18	19749651	T	A	18	22169690	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.66367049417495E-4	0.136
18	19749651	T	C	18	22169690	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	7.09912731771671E-5	0.004
18	19749651	T	G	18	22169690	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.907581908984E-4	0.058
18	19751057	A	C	18	22171096	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	3.36187853340119E-5	0.012
18	19751057	A	G	18	22171096	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	3.39047095572864E-5	0.006
18	19751057	A	T	18	22171096	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	3.21189053966825E-5	0.002
18	19751058	C	A	18	22171097	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00158792117554966	0.048
18	19751058	C	G	18	22171097	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.999971492972849	0.982
18	19751058	C	T	18	22171097	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	3.85439276201101E-4	0.092
18	19751059	C	A	18	22171098	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00135484374976996	0.064
18	19751059	C	G	18	22171098	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00121299283120506	0.036
18	19751059	C	T	18	22171098	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	1.35916474274647E-5	0.0
18	19751060	C	A	18	22171099	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00239434540771765	0.05
18	19751060	C	G	18	22171099	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	6.21994039107662E-4	0.078
18	19751060	C	T	18	22171099	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	1.26075798717558E-5	0.0
18	19751061	C	A	18	22171100	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00180850244208623	0.12
18	19751061	C	G	18	22171100	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	5.41963302016437E-4	0.118
18	19751061	C	T	18	22171100	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	2.83732945266886E-4	0.176
18	19751062	A	C	18	22171101	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	3.89510515427148E-5	0.0
18	19751062	A	G	18	22171101	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	4.9769585740194E-5	0.0
18	19751062	A	T	18	22171101	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	5.25593989589661E-5	0.012
18	19751063	C	A	18	22171102	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	8.59324625213157E-4	0.182
18	19751063	C	G	18	22171102	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.999875556423184	0.936
18	19751063	C	T	18	22171102	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	2.3226221608461E-5	0.008
18	19751064	C	A	18	22171103	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.0668196526442352	0.172
18	19751064	C	G	18	22171103	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.0470388749390553	0.21
18	19751064	C	T	18	22171103	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00109528886500113	0.03
18	19751065	T	A	18	22171104	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	2.30948650288679E-4	0.014
18	19751065	T	C	18	22171104	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	4.15437691322408E-4	0.184
18	19751065	T	G	18	22171104	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	5.89223154753275E-4	0.084
18	19751066	C	A	18	22171105	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.976288297408299	0.77
18	19751066	C	G	18	22171105	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.999633789260136	0.77
18	19751066	C	T	18	22171105	y	y	intronic	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00102486245985673	0.26
18	19751067	A	C	18	22171106	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999983239111161	0.952
18	19751067	A	G	18	22171106	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999983239111161	0.952
18	19751067	A	T	18	22171106	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999974306492365	0.956
18	19751068	G	A	18	22171107	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999970165151224	0.952
18	19751068	G	C	18	22171107	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999980537522904	0.95
18	19751068	G	T	18	22171107	y	y	splicing	GATA6	.	.	splicing	ENSG00000141448	.	.	0.999970165151224	0.954
18	19751069	G	A	18	22171108	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.431348917753351	0.658
18	19751069	G	C	18	22171108	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.997750655260454	0.792
18	19751069	G	T	18	22171108	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.998565374700155	0.784
18	19751070	A	C	18	22171109	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00434356905398317	0.082
18	19751070	A	G	18	22171109	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00673752299659753	0.038
18	19751070	A	T	18	22171109	y	y	UTR5	GATA6	.	.	UTR5	ENSG00000141448	.	.	0.00241595478596773	0.056
18	19752238	C	A	18	22172277	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon2:c.C1133A:p.A378E;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.C1133A:p.A378E;ENSG00000141448:ENST00000269216:exon2:c.C1133A:p.A378E;	0.0138862786877134	0.148
18	19752238	C	G	18	22172277	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon2:c.C1133G:p.A378G;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.C1133G:p.A378G;ENSG00000141448:ENST00000269216:exon2:c.C1133G:p.A378G;	0.00536460360127015	0.114
18	19752238	C	T	18	22172277	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon2:c.C1133T:p.A378V;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.C1133T:p.A378V;ENSG00000141448:ENST00000269216:exon2:c.C1133T:p.A378V;	0.141424727106651	0.292
18	19752239	A	C	18	22172278	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon2:c.A1134C:p.A378A;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.A1134C:p.A378A;ENSG00000141448:ENST00000269216:exon2:c.A1134C:p.A378A;	0.825882591119117	0.644
18	19752239	A	G	18	22172278	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon2:c.A1134G:p.A378A;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.A1134G:p.A378A;ENSG00000141448:ENST00000269216:exon2:c.A1134G:p.A378A;	0.821455736046797	0.708
18	19752239	A	T	18	22172278	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon2:c.A1134T:p.A378A;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.A1134T:p.A378A;ENSG00000141448:ENST00000269216:exon2:c.A1134T:p.A378A;	0.880247919983799	0.642
18	19752240	G	A	18	22172279	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon2:c.G1135A:p.D379N;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.G1135A:p.D379N;ENSG00000141448:ENST00000269216:exon2:c.G1135A:p.D379N;	0.999774312645493	0.978
18	19752240	G	C	18	22172279	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon2:c.G1135C:p.D379H;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.G1135C:p.D379H;ENSG00000141448:ENST00000269216:exon2:c.G1135C:p.D379H;	0.999865953182932	0.986
18	19752240	G	T	18	22172279	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon2:c.G1135T:p.D379Y;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon1:c.G1135T:p.D379Y;ENSG00000141448:ENST00000269216:exon2:c.G1135T:p.D379Y;	0.999749973660267	0.912
18	19752241	G	A	18	22172280	y	y	splicing	GATA6(NM_005257:exon2:c.1135+1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon2:c.1135+1G>A;ENST00000581694:exon1:c.1135+1G>A)	.	.	0.999990155693597	0.876
18	19752241	G	C	18	22172280	y	y	splicing	GATA6(NM_005257:exon2:c.1135+1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon2:c.1135+1G>C;ENST00000581694:exon1:c.1135+1G>C)	.	.	0.999990155693597	0.924
18	19752241	G	T	18	22172280	y	y	splicing	GATA6(NM_005257:exon2:c.1135+1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon2:c.1135+1G>T;ENST00000581694:exon1:c.1135+1G>T)	.	.	0.999990155693597	0.924
18	19752242	T	A	18	22172281	y	y	splicing	GATA6(NM_005257:exon2:c.1135+2T>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon2:c.1135+2T>A;ENST00000581694:exon1:c.1135+2T>A)	.	.	0.999994832183001	0.926
18	19752242	T	C	18	22172281	y	y	splicing	GATA6(NM_005257:exon2:c.1135+2T>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon2:c.1135+2T>C;ENST00000581694:exon1:c.1135+2T>C)	.	.	0.985384461775186	0.556
18	19752242	T	G	18	22172281	y	y	splicing	GATA6(NM_005257:exon2:c.1135+2T>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon2:c.1135+2T>G;ENST00000581694:exon1:c.1135+2T>G)	.	.	0.999994832183001	0.926
18	19752243	A	C	18	22172282	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.991622916789518	0.772
18	19752243	A	G	18	22172282	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.162132110837472	0.244
18	19752243	A	T	18	22172282	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.996168579675922	0.75
18	19752244	A	C	18	22172283	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.781017251515299	0.484
18	19752244	A	G	18	22172283	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.903565148130461	0.5
18	19752244	A	T	18	22172283	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.775467330737458	0.466
18	19752245	G	A	18	22172284	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.602390104786489	0.586
18	19752245	G	C	18	22172284	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.319173967083903	0.532
18	19752245	G	T	18	22172284	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.52364829212761	0.568
18	19752246	G	A	18	22172285	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00132558265933839	0.052
18	19752246	G	C	18	22172285	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00168011027869391	0.136
18	19752246	G	T	18	22172285	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	5.22959894046018E-4	0.002
18	19752247	G	A	18	22172286	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.92932915562044E-5	0.0
18	19752247	G	C	18	22172286	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.92932915562044E-5	0.0
18	19752247	G	T	18	22172286	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.34905935903703E-5	0.0
18	19752248	T	A	18	22172287	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.22742148595564E-5	0.004
18	19752248	T	C	18	22172287	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.22742148595564E-5	0.004
18	19752248	T	G	18	22172287	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.29840634748925E-5	0.004
18	19756904	C	A	18	22176943	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00379235702720767	0.076
18	19756904	C	G	18	22176943	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.63631174251712E-4	0.082
18	19756904	C	T	18	22176943	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.54146928454592E-4	0.016
18	19756905	T	A	18	22176944	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999520775100632	0.942
18	19756905	T	C	18	22176944	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00122944168638549	0.098
18	19756905	T	G	18	22176944	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.62059870474703	0.434
18	19756906	G	A	18	22176945	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.39409302956192E-4	0.11
18	19756906	G	C	18	22176945	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.38784668428047E-5	0.01
18	19756906	G	T	18	22176945	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.629457107067E-5	0.012
18	19756907	T	A	18	22176946	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.124755761746833	0.322
18	19756907	T	C	18	22176946	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00136530173333733	0.064
18	19756907	T	G	18	22176946	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0806327618811671	0.286
18	19756908	C	A	18	22176947	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.998943462552308	0.912
18	19756908	C	G	18	22176947	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	8.48257644556973E-4	0.07
18	19756908	C	T	18	22176947	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.41893902731053E-5	0.0
18	19756909	G	A	18	22176948	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.48321490481794E-5	0.018
18	19756909	G	C	18	22176948	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.72574789847114E-5	0.0
18	19756909	G	T	18	22176948	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.72574789847114E-5	0.002
18	19756910	C	A	18	22176949	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00365192282502038	0.282
18	19756910	C	G	18	22176949	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00442907442250306	0.278
18	19756910	C	T	18	22176949	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	7.35593735119714E-5	0.006
18	19756911	C	A	18	22176950	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999298274900235	0.962
18	19756911	C	G	18	22176950	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00427332405231179	0.082
18	19756911	C	T	18	22176950	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	8.54407785527923E-5	0.016
18	19756912	G	A	18	22176951	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.97515341381806E-4	0.046
18	19756912	G	C	18	22176951	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.06354495403794E-4	0.046
18	19756912	G	T	18	22176951	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	6.17566670030899E-4	0.032
18	19756913	C	A	18	22176952	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.993777558210709	0.89
18	19756913	C	G	18	22176952	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999935177770587	0.884
18	19756913	C	T	18	22176952	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0145222512625422	0.14
18	19756914	A	C	18	22176953	y	y	splicing	GATA6(NM_005257:exon3:c.1136-2A>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1136-2A>C;ENST00000581694:exon2:c.1136-2A>C)	.	.	0.99833384484872	0.732
18	19756914	A	G	18	22176953	y	y	splicing	GATA6(NM_005257:exon3:c.1136-2A>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1136-2A>G;ENST00000581694:exon2:c.1136-2A>G)	.	.	0.99833384484872	0.732
18	19756914	A	T	18	22176953	y	y	splicing	GATA6(NM_005257:exon3:c.1136-2A>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1136-2A>T;ENST00000581694:exon2:c.1136-2A>T)	.	.	0.999132858159571	0.746
18	19756915	G	A	18	22176954	y	y	splicing	GATA6(NM_005257:exon3:c.1136-1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1136-1G>A;ENST00000581694:exon2:c.1136-1G>A)	.	.	0.999969273162789	0.96
18	19756915	G	C	18	22176954	y	y	splicing	GATA6(NM_005257:exon3:c.1136-1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1136-1G>C;ENST00000581694:exon2:c.1136-1G>C)	.	.	0.999969273162789	0.96
18	19756915	G	T	18	22176954	y	y	splicing	GATA6(NM_005257:exon3:c.1136-1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1136-1G>T;ENST00000581694:exon2:c.1136-1G>T)	.	.	0.999969273162789	0.958
18	19756916	A	C	18	22176955	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.A1136C:p.D379A;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.A1136C:p.D379A;ENSG00000141448:ENST00000269216:exon3:c.A1136C:p.D379A;	0.00467086996001005	0.138
18	19756916	A	G	18	22176955	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.A1136G:p.D379G;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.A1136G:p.D379G;ENSG00000141448:ENST00000269216:exon3:c.A1136G:p.D379G;	4.90757524778976E-5	0.018
18	19756916	A	T	18	22176955	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.A1136T:p.D379V;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.A1136T:p.D379V;ENSG00000141448:ENST00000269216:exon3:c.A1136T:p.D379V;	0.00256878019656753	0.126
18	19756917	C	A	18	22176956	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.C1137A:p.D379E;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.C1137A:p.D379E;ENSG00000141448:ENST00000269216:exon3:c.C1137A:p.D379E;	9.09153997552209E-5	0.012
18	19756917	C	G	18	22176956	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.C1137G:p.D379E;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.C1137G:p.D379E;ENSG00000141448:ENST00000269216:exon3:c.C1137G:p.D379E;	2.56851379369952E-4	0.066
18	19756917	C	T	18	22176956	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon3:c.C1137T:p.D379D;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.C1137T:p.D379D;ENSG00000141448:ENST00000269216:exon3:c.C1137T:p.D379D;	5.92265577973144E-5	0.002
18	19757080	G	A	18	22177119	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.G1300A:p.V434M;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.G1300A:p.V434M;ENSG00000141448:ENST00000269216:exon3:c.G1300A:p.V434M;	0.872353008052542	0.658
18	19757080	G	C	18	22177119	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.G1300C:p.V434L;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.G1300C:p.V434L;ENSG00000141448:ENST00000269216:exon3:c.G1300C:p.V434L;	5.32523817577192E-4	0.004
18	19757080	G	T	18	22177119	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.G1300T:p.V434L;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.G1300T:p.V434L;ENSG00000141448:ENST00000269216:exon3:c.G1300T:p.V434L;	0.00472821216312547	0.168
18	19757081	T	A	18	22177120	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.T1301A:p.V434E;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.T1301A:p.V434E;ENSG00000141448:ENST00000269216:exon3:c.T1301A:p.V434E;	0.0135973965528033	0.266
18	19757081	T	C	18	22177120	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.T1301C:p.V434A;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.T1301C:p.V434A;ENSG00000141448:ENST00000269216:exon3:c.T1301C:p.V434A;	0.0959670469962994	0.24
18	19757081	T	G	18	22177120	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon3:c.T1301G:p.V434G;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.T1301G:p.V434G;ENSG00000141448:ENST00000269216:exon3:c.T1301G:p.V434G;	0.292655957022501	0.294
18	19757082	G	A	18	22177121	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon3:c.G1302A:p.V434V;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.G1302A:p.V434V;ENSG00000141448:ENST00000269216:exon3:c.G1302A:p.V434V;	0.999851616213304	0.98
18	19757082	G	C	18	22177121	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon3:c.G1302C:p.V434V;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.G1302C:p.V434V;ENSG00000141448:ENST00000269216:exon3:c.G1302C:p.V434V;	0.999923895966192	0.862
18	19757082	G	T	18	22177121	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon3:c.G1302T:p.V434V;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon2:c.G1302T:p.V434V;ENSG00000141448:ENST00000269216:exon3:c.G1302T:p.V434V;	0.999756190906467	0.966
18	19757083	G	A	18	22177122	y	y	splicing	GATA6(NM_005257:exon3:c.1302+1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1302+1G>A;ENST00000581694:exon2:c.1302+1G>A)	.	.	0.999986675681007	0.928
18	19757083	G	C	18	22177122	y	y	splicing	GATA6(NM_005257:exon3:c.1302+1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1302+1G>C;ENST00000581694:exon2:c.1302+1G>C)	.	.	0.999986675681007	0.928
18	19757083	G	T	18	22177122	y	y	splicing	GATA6(NM_005257:exon3:c.1302+1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1302+1G>T;ENST00000581694:exon2:c.1302+1G>T)	.	.	0.999986675681007	0.928
18	19757084	T	A	18	22177123	y	y	splicing	GATA6(NM_005257:exon3:c.1302+2T>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1302+2T>A;ENST00000581694:exon2:c.1302+2T>A)	.	.	0.999989917668626	0.928
18	19757084	T	C	18	22177123	y	y	splicing	GATA6(NM_005257:exon3:c.1302+2T>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1302+2T>C;ENST00000581694:exon2:c.1302+2T>C)	.	.	0.999935529631333	0.866
18	19757084	T	G	18	22177123	y	y	splicing	GATA6(NM_005257:exon3:c.1302+2T>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon3:c.1302+2T>G;ENST00000581694:exon2:c.1302+2T>G)	.	.	0.999989917668626	0.928
18	19757085	G	A	18	22177124	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.2781313406125E-4	0.036
18	19757085	G	C	18	22177124	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.984618129467595	0.808
18	19757085	G	T	18	22177124	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.953545307247325	0.794
18	19757086	A	C	18	22177125	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999124793835624	0.956
18	19757086	A	G	18	22177125	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999177713352285	0.85
18	19757086	A	T	18	22177125	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999759571996085	0.924
18	19757087	G	A	18	22177126	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999982911669243	0.92
18	19757087	G	C	18	22177126	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999981187092327	0.97
18	19757087	G	T	18	22177126	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999991412297698	0.94
18	19757088	T	A	18	22177127	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.847483812086505	0.638
18	19757088	T	C	18	22177127	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.676249047624622	0.582
18	19757088	T	G	18	22177127	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.679471704149	0.558
18	19757089	G	A	18	22177128	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0281031458629702	0.116
18	19757089	G	C	18	22177128	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00725151864266466	0.16
18	19757089	G	T	18	22177128	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00332473560705165	0.062
18	19757090	T	A	18	22177129	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.4473895785531E-4	0.012
18	19757090	T	C	18	22177129	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.38009784318533E-4	0.016
18	19757090	T	G	18	22177129	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.09657304350846E-4	0.01
18	19761402	T	A	18	22181441	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.603995545262948	0.65
18	19761402	T	C	18	22181441	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00123113052613888	0.124
18	19761402	T	G	18	22181441	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.362115022661998	0.558
18	19761403	A	C	18	22181442	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.43131755951239E-5	0.0
18	19761403	A	G	18	22181442	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.82320785823955E-5	0.002
18	19761403	A	T	18	22181442	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	6.4127591483773E-5	0.052
18	19761404	C	A	18	22181443	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00311632669204195	0.09
18	19761404	C	G	18	22181443	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999922818137706	0.978
18	19761404	C	T	18	22181443	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.34195900996941E-4	0.036
18	19761405	T	A	18	22181444	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999672379032556	0.966
18	19761405	T	C	18	22181444	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00136034750930464	0.138
18	19761405	T	G	18	22181444	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0373338512656251	0.366
18	19761406	G	A	18	22181445	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.42524026605794E-4	0.028
18	19761406	G	C	18	22181445	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	5.81165951070717E-5	0.0
18	19761406	G	T	18	22181445	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.74228329808572E-5	0.0
18	19761407	T	A	18	22181446	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0173927760415491	0.164
18	19761407	T	C	18	22181446	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	9.30348397870461E-5	0.018
18	19761407	T	G	18	22181446	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00622333098715908	0.168
18	19761408	T	A	18	22181447	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.159802561060246	0.518
18	19761408	T	C	18	22181447	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	9.20505794368949E-5	0.008
18	19761408	T	G	18	22181447	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0750045718262815	0.472
18	19761409	T	A	18	22181448	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.694890212005887	0.5
18	19761409	T	C	18	22181448	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	7.22065805922588E-5	0.01
18	19761409	T	G	18	22181448	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.732003337031201	0.51
18	19761410	C	A	18	22181449	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.97669633571722E-5	0.008
18	19761410	C	G	18	22181449	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	5.62004184769422E-5	0.008
18	19761410	C	T	18	22181449	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.93157777546664E-5	0.01
18	19761411	T	A	18	22181450	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00632341512589134	0.234
18	19761411	T	C	18	22181450	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.18044844749892E-5	0.038
18	19761411	T	G	18	22181450	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.248238449684077	0.52
18	19761412	A	C	18	22181451	y	y	splicing	GATA6(NM_005257:exon4:c.1303-2A>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1303-2A>C;ENST00000581694:exon3:c.1303-2A>C)	.	.	0.999986741007567	0.944
18	19761412	A	G	18	22181451	y	y	splicing	GATA6(NM_005257:exon4:c.1303-2A>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1303-2A>G;ENST00000581694:exon3:c.1303-2A>G)	.	.	0.999986741007567	0.944
18	19761412	A	T	18	22181451	y	y	splicing	GATA6(NM_005257:exon4:c.1303-2A>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1303-2A>T;ENST00000581694:exon3:c.1303-2A>T)	.	.	0.999986741007567	0.944
18	19761413	G	A	18	22181452	y	y	splicing	GATA6(NM_005257:exon4:c.1303-1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1303-1G>A;ENST00000581694:exon3:c.1303-1G>A)	.	.	0.999989125585301	0.944
18	19761413	G	C	18	22181452	y	y	splicing	GATA6(NM_005257:exon4:c.1303-1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1303-1G>C;ENST00000581694:exon3:c.1303-1G>C)	.	.	0.999989125585301	0.944
18	19761413	G	T	18	22181452	y	y	splicing	GATA6(NM_005257:exon4:c.1303-1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1303-1G>T;ENST00000581694:exon3:c.1303-1G>T)	.	.	0.999989125585301	0.944
18	19761414	C	A	18	22181453	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.C1303A:p.P435T;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.C1303A:p.P435T;ENSG00000141448:ENST00000269216:exon4:c.C1303A:p.P435T;	0.194397148539055	0.434
18	19761414	C	G	18	22181453	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.C1303G:p.P435A;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.C1303G:p.P435A;ENSG00000141448:ENST00000269216:exon4:c.C1303G:p.P435A;	0.580853380697237	0.446
18	19761414	C	T	18	22181453	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.C1303T:p.P435S;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.C1303T:p.P435S;ENSG00000141448:ENST00000269216:exon4:c.C1303T:p.P435S;	0.0148977883328227	0.25
18	19761415	C	A	18	22181454	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.C1304A:p.P435H;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.C1304A:p.P435H;ENSG00000141448:ENST00000269216:exon4:c.C1304A:p.P435H;	0.99164509902536	0.896
18	19761415	C	G	18	22181454	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.C1304G:p.P435R;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.C1304G:p.P435R;ENSG00000141448:ENST00000269216:exon4:c.C1304G:p.P435R;	0.982035446610515	0.842
18	19761415	C	T	18	22181454	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.C1304T:p.P435L;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.C1304T:p.P435L;ENSG00000141448:ENST00000269216:exon4:c.C1304T:p.P435L;	0.980738302444458	0.83
18	19761537	G	A	18	22181576	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.G1426A:p.G476R;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1426A:p.G476R;ENSG00000141448:ENST00000269216:exon4:c.G1426A:p.G476R;	0.451354455728407	0.604
18	19761537	G	C	18	22181576	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.G1426C:p.G476R;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1426C:p.G476R;ENSG00000141448:ENST00000269216:exon4:c.G1426C:p.G476R;	0.479948111006494	0.586
18	19761537	G	T	18	22181576	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.G1426T:p.G476W;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1426T:p.G476W;ENSG00000141448:ENST00000269216:exon4:c.G1426T:p.G476W;	0.309765469543335	0.446
18	19761538	G	A	18	22181577	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.G1427A:p.G476E;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1427A:p.G476E;ENSG00000141448:ENST00000269216:exon4:c.G1427A:p.G476E;	0.971019211436105	0.652
18	19761538	G	C	18	22181577	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.G1427C:p.G476A;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1427C:p.G476A;ENSG00000141448:ENST00000269216:exon4:c.G1427C:p.G476A;	0.99196092180829	0.854
18	19761538	G	T	18	22181577	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon4:c.G1427T:p.G476V;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1427T:p.G476V;ENSG00000141448:ENST00000269216:exon4:c.G1427T:p.G476V;	0.989510672824858	0.764
18	19761539	G	A	18	22181578	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon4:c.G1428A:p.G476G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1428A:p.G476G;ENSG00000141448:ENST00000269216:exon4:c.G1428A:p.G476G;	0.999982840131354	0.996
18	19761539	G	C	18	22181578	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon4:c.G1428C:p.G476G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1428C:p.G476G;ENSG00000141448:ENST00000269216:exon4:c.G1428C:p.G476G;	0.999988798439514	0.996
18	19761539	G	T	18	22181578	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon4:c.G1428T:p.G476G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon3:c.G1428T:p.G476G;ENSG00000141448:ENST00000269216:exon4:c.G1428T:p.G476G;	0.999959059281782	0.96
18	19761540	G	A	18	22181579	y	y	splicing	GATA6(NM_005257:exon4:c.1428+1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1428+1G>A;ENST00000581694:exon3:c.1428+1G>A)	.	.	0.999992425382947	0.944
18	19761540	G	C	18	22181579	y	y	splicing	GATA6(NM_005257:exon4:c.1428+1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1428+1G>C;ENST00000581694:exon3:c.1428+1G>C)	.	.	0.999992425382947	0.944
18	19761540	G	T	18	22181579	y	y	splicing	GATA6(NM_005257:exon4:c.1428+1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1428+1G>T;ENST00000581694:exon3:c.1428+1G>T)	.	.	0.999992425382947	0.944
18	19761541	T	A	18	22181580	y	y	splicing	GATA6(NM_005257:exon4:c.1428+2T>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1428+2T>A;ENST00000581694:exon3:c.1428+2T>A)	.	.	0.999990764389106	0.934
18	19761541	T	C	18	22181580	y	y	splicing	GATA6(NM_005257:exon4:c.1428+2T>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1428+2T>C;ENST00000581694:exon3:c.1428+2T>C)	.	.	0.999923041698277	0.934
18	19761541	T	G	18	22181580	y	y	splicing	GATA6(NM_005257:exon4:c.1428+2T>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon4:c.1428+2T>G;ENST00000581694:exon3:c.1428+2T>G)	.	.	0.999990764389106	0.942
18	19761542	A	C	18	22181581	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.998675816219833	0.828
18	19761542	A	G	18	22181581	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.676426609476196	0.582
18	19761542	A	T	18	22181581	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.998688838211858	0.864
18	19761543	T	A	18	22181582	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.8719918450975E-5	0.008
18	19761543	T	C	18	22181582	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.20484524398808E-5	0.008
18	19761543	T	G	18	22181582	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.15975248001647E-4	0.074
18	19761544	G	A	18	22181583	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999979324697268	1.0
18	19761544	G	C	18	22181583	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999979905174571	0.992
18	19761544	G	T	18	22181583	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999960269454403	0.976
18	19761545	C	A	18	22181584	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.89742949975005E-4	0.012
18	19761545	C	G	18	22181584	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.06296097963856E-4	0.034
18	19761545	C	T	18	22181584	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.88067510416196E-5	0.012
18	19761546	C	A	18	22181585	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.27978697954933E-5	0.0
18	19761546	C	G	18	22181585	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	7.11210595250109E-4	0.004
18	19761546	C	T	18	22181585	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.06767139226806E-4	0.024
18	19761547	A	C	18	22181586	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	7.1727629288968E-6	0.0
18	19761547	A	G	18	22181586	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.93005294289305E-5	0.0
18	19761547	A	T	18	22181586	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.03398912515502E-5	0.0
18	19762706	A	C	18	22182745	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.15214566577209E-5	0.0
18	19762706	A	G	18	22182745	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	9.13579813309594E-5	0.036
18	19762706	A	T	18	22182745	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.56033844465738E-5	0.02
18	19762707	A	C	18	22182746	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.89761826747631E-5	0.02
18	19762707	A	G	18	22182746	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.961996587774332	0.862
18	19762707	A	T	18	22182746	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	6.85472252500656E-5	0.018
18	19762708	A	C	18	22182747	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.22211592489425E-4	0.076
18	19762708	A	G	18	22182747	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999080793533981	0.978
18	19762708	A	T	18	22182747	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.40452014285257E-4	0.06
18	19762709	A	C	18	22182748	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.1203831590628E-5	0.0
18	19762709	A	G	18	22182748	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.979730238948974	0.934
18	19762709	A	T	18	22182748	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.46409346977611E-5	0.004
18	19762710	T	A	18	22182749	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0120653926328667	0.29
18	19762710	T	C	18	22182749	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.09216724278469E-4	0.096
18	19762710	T	G	18	22182749	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999820303506638	0.94
18	19762711	T	A	18	22182750	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00249968410685109	0.1
18	19762711	T	C	18	22182750	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.40629592188401E-4	0.006
18	19762711	T	G	18	22182750	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00350732648764863	0.126
18	19762712	T	A	18	22182751	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.733341745600923	0.776
18	19762712	T	C	18	22182751	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	6.44771294609694E-4	0.05
18	19762712	T	G	18	22182751	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.598690953159032	0.758
18	19762713	T	A	18	22182752	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.984751218845951	0.762
18	19762713	T	C	18	22182752	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.180435207293016	0.41
18	19762713	T	G	18	22182752	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.986661288988634	0.788
18	19762714	T	A	18	22182753	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	7.22175997828498E-4	0.062
18	19762714	T	C	18	22182753	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.38648764994491E-4	0.054
18	19762714	T	G	18	22182753	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00485754180558779	0.116
18	19762715	T	A	18	22182754	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00845198900412502	0.37
18	19762715	T	C	18	22182754	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	7.51605209097547E-5	0.018
18	19762715	T	G	18	22182754	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.992730552570734	0.738
18	19762716	A	C	18	22182755	y	y	splicing	GATA6(NM_005257:exon5:c.1429-2A>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1429-2A>C;ENST00000581694:exon4:c.1429-2A>C)	.	.	0.999984339322171	0.926
18	19762716	A	G	18	22182755	y	y	splicing	GATA6(NM_005257:exon5:c.1429-2A>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1429-2A>G;ENST00000581694:exon4:c.1429-2A>G)	.	.	0.999984339322171	0.926
18	19762716	A	T	18	22182755	y	y	splicing	GATA6(NM_005257:exon5:c.1429-2A>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1429-2A>T;ENST00000581694:exon4:c.1429-2A>T)	.	.	0.999992007541056	0.93
18	19762717	G	A	18	22182756	y	y	splicing	GATA6(NM_005257:exon5:c.1429-1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1429-1G>A;ENST00000581694:exon4:c.1429-1G>A)	.	.	0.999988661547008	0.94
18	19762717	G	C	18	22182756	y	y	splicing	GATA6(NM_005257:exon5:c.1429-1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1429-1G>C;ENST00000581694:exon4:c.1429-1G>C)	.	.	0.999988661547008	0.94
18	19762717	G	T	18	22182756	y	y	splicing	GATA6(NM_005257:exon5:c.1429-1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1429-1G>T;ENST00000581694:exon4:c.1429-1G>T)	.	.	0.999988661547008	0.94
18	19762718	G	A	18	22182757	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.G1429A:p.V477M;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.G1429A:p.V477M;ENSG00000141448:ENST00000269216:exon5:c.G1429A:p.V477M;	0.999651557455887	0.96
18	19762718	G	C	18	22182757	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.G1429C:p.V477L;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.G1429C:p.V477L;ENSG00000141448:ENST00000269216:exon5:c.G1429C:p.V477L;	0.999909580907716	0.974
18	19762718	G	T	18	22182757	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.G1429T:p.V477L;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.G1429T:p.V477L;ENSG00000141448:ENST00000269216:exon5:c.G1429T:p.V477L;	0.999951250012224	0.988
18	19762719	T	A	18	22182758	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.T1430A:p.V477E;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.T1430A:p.V477E;ENSG00000141448:ENST00000269216:exon5:c.T1430A:p.V477E;	0.798190897747599	0.54
18	19762719	T	C	18	22182758	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.T1430C:p.V477A;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.T1430C:p.V477A;ENSG00000141448:ENST00000269216:exon5:c.T1430C:p.V477A;	0.756439791671641	0.552
18	19762719	T	G	18	22182758	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.T1430G:p.V477G;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.T1430G:p.V477G;ENSG00000141448:ENST00000269216:exon5:c.T1430G:p.V477G;	0.707245305802192	0.51
18	19762803	C	A	18	22182842	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.C1514A:p.S505Y;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.C1514A:p.S505Y;ENSG00000141448:ENST00000269216:exon5:c.C1514A:p.S505Y;	0.926216910796867	0.81
18	19762803	C	G	18	22182842	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.C1514G:p.S505C;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.C1514G:p.S505C;ENSG00000141448:ENST00000269216:exon5:c.C1514G:p.S505C;	0.928681889814019	0.68
18	19762803	C	T	18	22182842	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.C1514T:p.S505F;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.C1514T:p.S505F;ENSG00000141448:ENST00000269216:exon5:c.C1514T:p.S505F;	0.998913475160078	0.876
18	19762804	T	A	18	22182843	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon5:c.T1515A:p.S505S;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.T1515A:p.S505S;ENSG00000141448:ENST00000269216:exon5:c.T1515A:p.S505S;	2.5773825281332E-4	0.168
18	19762804	T	C	18	22182843	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon5:c.T1515C:p.S505S;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.T1515C:p.S505S;ENSG00000141448:ENST00000269216:exon5:c.T1515C:p.S505S;	4.03556682964302E-5	0.018
18	19762804	T	G	18	22182843	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon5:c.T1515G:p.S505S;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.T1515G:p.S505S;ENSG00000141448:ENST00000269216:exon5:c.T1515G:p.S505S;	6.96318437293614E-5	0.04
18	19762805	G	A	18	22182844	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.G1516A:p.G506S;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.G1516A:p.G506S;ENSG00000141448:ENST00000269216:exon5:c.G1516A:p.G506S;	0.999994222381975	1.0
18	19762805	G	C	18	22182844	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.G1516C:p.G506R;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.G1516C:p.G506R;ENSG00000141448:ENST00000269216:exon5:c.G1516C:p.G506R;	0.999998122414291	0.998
18	19762805	G	T	18	22182844	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon5:c.G1516T:p.G506C;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon4:c.G1516T:p.G506C;ENSG00000141448:ENST00000269216:exon5:c.G1516T:p.G506C;	0.999993018555097	1.0
18	19762806	G	A	18	22182845	y	y	splicing	GATA6(NM_005257:exon5:c.1516+1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1516+1G>A;ENST00000581694:exon4:c.1516+1G>A)	.	.	0.999983327830521	0.938
18	19762806	G	C	18	22182845	y	y	splicing	GATA6(NM_005257:exon5:c.1516+1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1516+1G>C;ENST00000581694:exon4:c.1516+1G>C)	.	.	0.999983327830521	0.938
18	19762806	G	T	18	22182845	y	y	splicing	GATA6(NM_005257:exon5:c.1516+1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1516+1G>T;ENST00000581694:exon4:c.1516+1G>T)	.	.	0.999983327830521	0.938
18	19762807	T	A	18	22182846	y	y	splicing	GATA6(NM_005257:exon5:c.1516+2T>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1516+2T>A;ENST00000581694:exon4:c.1516+2T>A)	.	.	0.999986607513753	0.914
18	19762807	T	C	18	22182846	y	y	splicing	GATA6(NM_005257:exon5:c.1516+2T>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1516+2T>C;ENST00000581694:exon4:c.1516+2T>C)	.	.	0.989722594634724	0.568
18	19762807	T	G	18	22182846	y	y	splicing	GATA6(NM_005257:exon5:c.1516+2T>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon5:c.1516+2T>G;ENST00000581694:exon4:c.1516+2T>G)	.	.	0.999986607513753	0.914
18	19762808	A	C	18	22182847	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999933361537088	0.964
18	19762808	A	G	18	22182847	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999491965876686	0.956
18	19762808	A	T	18	22182847	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999897849668984	0.964
18	19762809	A	C	18	22182848	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.995689715521057	0.934
18	19762809	A	G	18	22182848	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.994788425796184	0.968
18	19762809	A	T	18	22182848	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.998764629314436	0.946
18	19762810	A	C	18	22182849	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0168257244222848	0.172
18	19762810	A	G	18	22182849	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	5.45778599811551E-4	0.06
18	19762810	A	T	18	22182849	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00213408143376099	0.052
18	19762811	T	A	18	22182850	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.995778945493857	0.704
18	19762811	T	C	18	22182850	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.993133324885036	0.894
18	19762811	T	G	18	22182850	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.890593037030895	0.586
18	19762812	A	C	18	22182851	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0037694674837358	0.038
18	19762812	A	G	18	22182851	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0168338995116942	0.11
18	19762812	A	T	18	22182851	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0193821370942439	0.106
18	19762813	T	A	18	22182852	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	9.8549233714362E-5	0.002
18	19762813	T	C	18	22182852	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.01846232170845E-4	0.006
18	19762813	T	G	18	22182852	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00123192205107931	0.042
18	19762889	T	A	18	22182928	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.995248680485419	0.958
18	19762889	T	C	18	22182928	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.74317406891723E-4	0.008
18	19762889	T	G	18	22182928	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0233798521158996	0.18
18	19762890	G	A	18	22182929	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	8.78744687464715E-5	0.088
18	19762890	G	C	18	22182929	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.68507151494883E-5	0.022
18	19762890	G	T	18	22182929	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.56722669649238E-5	0.022
18	19762891	A	C	18	22182930	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	1.46648364918342E-4	0.006
18	19762891	A	G	18	22182930	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.60496895259496E-4	0.01
18	19762891	A	T	18	22182930	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	9.20531303821265E-5	0.032
18	19762892	C	A	18	22182931	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.52877734476309E-4	0.022
18	19762892	C	G	18	22182931	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.995013860149024	0.972
18	19762892	C	T	18	22182931	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.18129598865676E-5	0.01
18	19762893	T	A	18	22182932	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999942132814507	0.988
18	19762893	T	C	18	22182932	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.83648849549321E-5	0.002
18	19762893	T	G	18	22182932	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0147483036785302	0.176
18	19762894	G	A	18	22182933	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.26978727611254E-4	0.046
18	19762894	G	C	18	22182933	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	9.7439659638959E-5	0.002
18	19762894	G	T	18	22182933	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	9.1812652633319E-5	0.008
18	19762895	T	A	18	22182934	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.989199462516455	0.804
18	19762895	T	C	18	22182934	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00378745117250827	0.19
18	19762895	T	G	18	22182934	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.961024933175874	0.79
18	19762896	T	A	18	22182935	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999749747819301	0.962
18	19762896	T	C	18	22182935	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00535484910312077	0.242
18	19762896	T	G	18	22182935	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.86701604745222	0.716
18	19762897	G	A	18	22182936	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	8.92002532048906E-4	0.008
18	19762897	G	C	18	22182936	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	6.95750415930129E-5	0.004
18	19762897	G	T	18	22182936	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.52068961473121E-4	0.0
18	19762898	C	A	18	22182937	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.98484753641923	0.864
18	19762898	C	G	18	22182937	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999874415436129	0.892
18	19762898	C	T	18	22182937	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0514361802603587	0.068
18	19762899	A	C	18	22182938	y	y	splicing	GATA6(NM_005257:exon6:c.1517-2A>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1517-2A>C;ENST00000581694:exon5:c.1517-2A>C)	.	.	0.999988247793601	0.912
18	19762899	A	G	18	22182938	y	y	splicing	GATA6(NM_005257:exon6:c.1517-2A>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1517-2A>G;ENST00000581694:exon5:c.1517-2A>G)	.	.	0.999988247793601	0.912
18	19762899	A	T	18	22182938	y	y	splicing	GATA6(NM_005257:exon6:c.1517-2A>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1517-2A>T;ENST00000581694:exon5:c.1517-2A>T)	.	.	0.999988247793601	0.912
18	19762900	G	A	18	22182939	y	y	splicing	GATA6(NM_005257:exon6:c.1517-1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1517-1G>A;ENST00000581694:exon5:c.1517-1G>A)	.	.	0.999987124402133	0.92
18	19762900	G	C	18	22182939	y	y	splicing	GATA6(NM_005257:exon6:c.1517-1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1517-1G>C;ENST00000581694:exon5:c.1517-1G>C)	.	.	0.999985389474359	0.92
18	19762900	G	T	18	22182939	y	y	splicing	GATA6(NM_005257:exon6:c.1517-1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1517-1G>T;ENST00000581694:exon5:c.1517-1G>T)	.	.	0.999982071816938	0.918
18	19762901	G	A	18	22182940	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1517A:p.G506D;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1517A:p.G506D;ENSG00000141448:ENST00000269216:exon6:c.G1517A:p.G506D;	0.998865378321643	0.86
18	19762901	G	C	18	22182940	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1517C:p.G506A;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1517C:p.G506A;ENSG00000141448:ENST00000269216:exon6:c.G1517C:p.G506A;	0.999864507888286	0.988
18	19762901	G	T	18	22182940	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1517T:p.G506V;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1517T:p.G506V;ENSG00000141448:ENST00000269216:exon6:c.G1517T:p.G506V;	0.99990709176582	0.996
18	19762902	T	A	18	22182941	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon6:c.T1518A:p.G506G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.T1518A:p.G506G;ENSG00000141448:ENST00000269216:exon6:c.T1518A:p.G506G;	0.00661255876174937	0.08
18	19762902	T	C	18	22182941	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon6:c.T1518C:p.G506G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.T1518C:p.G506G;ENSG00000141448:ENST00000269216:exon6:c.T1518C:p.G506G;	0.0059646814043153	0.17
18	19762902	T	G	18	22182941	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon6:c.T1518G:p.G506G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.T1518G:p.G506G;ENSG00000141448:ENST00000269216:exon6:c.T1518G:p.G506G;	0.0059646814043153	0.128
18	19763002	G	A	18	22183041	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1618A:p.G540R;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1618A:p.G540R;ENSG00000141448:ENST00000269216:exon6:c.G1618A:p.G540R;	0.313360556596559	0.522
18	19763002	G	C	18	22183041	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1618C:p.G540R;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1618C:p.G540R;ENSG00000141448:ENST00000269216:exon6:c.G1618C:p.G540R;	0.288926805320703	0.526
18	19763002	G	T	18	22183041	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1618T:p.G540W;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1618T:p.G540W;ENSG00000141448:ENST00000269216:exon6:c.G1618T:p.G540W;	0.479020552098553	0.534
18	19763003	G	A	18	22183042	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1619A:p.G540E;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1619A:p.G540E;ENSG00000141448:ENST00000269216:exon6:c.G1619A:p.G540E;	0.971377567513423	0.664
18	19763003	G	C	18	22183042	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1619C:p.G540A;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1619C:p.G540A;ENSG00000141448:ENST00000269216:exon6:c.G1619C:p.G540A;	0.992857727243738	0.868
18	19763003	G	T	18	22183042	y	y	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon6:c.G1619T:p.G540V;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1619T:p.G540V;ENSG00000141448:ENST00000269216:exon6:c.G1619T:p.G540V;	0.992603388776749	0.728
18	19763004	G	A	18	22183043	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon6:c.G1620A:p.G540G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1620A:p.G540G;ENSG00000141448:ENST00000269216:exon6:c.G1620A:p.G540G;	0.994660763751229	0.716
18	19763004	G	C	18	22183043	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon6:c.G1620C:p.G540G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1620C:p.G540G;ENSG00000141448:ENST00000269216:exon6:c.G1620C:p.G540G;	0.994665640633004	0.738
18	19763004	G	T	18	22183043	y	y	exonic	GATA6	synonymous SNV	GATA6:NM_005257:exon6:c.G1620T:p.G540G;	exonic	ENSG00000141448	synonymous SNV	ENSG00000141448:ENST00000581694:exon5:c.G1620T:p.G540G;ENSG00000141448:ENST00000269216:exon6:c.G1620T:p.G540G;	0.989244171009293	0.786
18	19763005	G	A	18	22183044	y	y	splicing	GATA6(NM_005257:exon6:c.1620+1G>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1620+1G>A;ENST00000581694:exon5:c.1620+1G>A)	.	.	0.999990361384395	0.938
18	19763005	G	C	18	22183044	y	y	splicing	GATA6(NM_005257:exon6:c.1620+1G>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1620+1G>C;ENST00000581694:exon5:c.1620+1G>C)	.	.	0.999990361384395	0.938
18	19763005	G	T	18	22183044	y	y	splicing	GATA6(NM_005257:exon6:c.1620+1G>T)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1620+1G>T;ENST00000581694:exon5:c.1620+1G>T)	.	.	0.999990361384395	0.938
18	19763006	T	A	18	22183045	y	y	splicing	GATA6(NM_005257:exon6:c.1620+2T>A)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1620+2T>A;ENST00000581694:exon5:c.1620+2T>A)	.	.	0.999988247793601	0.93
18	19763006	T	C	18	22183045	y	y	splicing	GATA6(NM_005257:exon6:c.1620+2T>C)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1620+2T>C;ENST00000581694:exon5:c.1620+2T>C)	.	.	0.996388929962285	0.696
18	19763006	T	G	18	22183045	y	y	splicing	GATA6(NM_005257:exon6:c.1620+2T>G)	.	.	splicing	ENSG00000141448(ENST00000269216:exon6:c.1620+2T>G;ENST00000581694:exon5:c.1620+2T>G)	.	.	0.999988247793601	0.93
18	19763007	A	C	18	22183046	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.781924860021277	0.526
18	19763007	A	G	18	22183046	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.00229386266990708	0.064
18	19763007	A	T	18	22183046	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.802079468950833	0.532
18	19763008	A	C	18	22183047	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.974158766511898	0.742
18	19763008	A	G	18	22183047	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.992901763715652	0.822
18	19763008	A	T	18	22183047	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.974538594310864	0.746
18	19763009	G	A	18	22183048	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999513000338287	0.922
18	19763009	G	C	18	22183048	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999733645027774	0.858
18	19763009	G	T	18	22183048	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.999523876419667	0.854
18	19763010	T	A	18	22183049	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.425248802768059	0.44
18	19763010	T	C	18	22183049	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.23430866186159	0.482
18	19763010	T	G	18	22183049	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	0.0571420410947951	0.338
18	19763011	A	C	18	22183050	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	3.23146394715882E-4	0.038
18	19763011	A	G	18	22183050	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.65244968958263E-4	0.068
18	19763011	A	T	18	22183050	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	4.65244968958263E-4	0.012
18	19763012	T	A	18	22183051	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.455930068921E-5	0.0
18	19763012	T	C	18	22183051	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.455930068921E-5	0.0
18	19763012	T	G	18	22183051	y	y	intronic	GATA6	.	.	intronic	ENSG00000141448	.	.	2.455930068921E-5	0.018
18	19780607	C	A	18	22200644	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	3.23103072055753E-4	0.008
18	19780607	C	G	18	22200644	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	2.37106530880388E-4	0.006
18	19780607	C	T	18	22200644	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	2.07952263989769E-5	0.0
18	19780608	T	A	18	22200645	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.00878667613693489	0.166
18	19780608	T	C	18	22200645	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	1.04437963902029E-4	0.044
18	19780608	T	G	18	22200645	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.00800385353892499	0.174
18	19780609	C	A	18	22200646	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	4.68555271179201E-4	0.064
18	19780609	C	G	18	22200646	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	8.34939603993035E-5	0.02
18	19780609	C	T	18	22200646	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	8.69164310458084E-6	0.008
18	19780610	T	A	18	22200647	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.00324310686412538	0.11
18	19780610	T	C	18	22200647	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	1.51164188409821E-4	0.006
18	19780610	T	G	18	22200647	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.00208297457701755	0.11
18	19780611	T	A	18	22200648	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	2.25118020291507E-4	0.024
18	19780611	T	C	18	22200648	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	2.11196469516381E-5	0.0
18	19780611	T	G	18	22200648	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	1.38972209247284E-4	0.02
18	19780612	C	A	18	22200649	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.00494950268979606	0.198
18	19780612	C	G	18	22200649	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.00135664507678412	0.07
18	19780612	C	T	18	22200649	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	1.67029170605352E-4	0.008
18	19780613	T	A	18	22200650	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.999833642300043	0.906
18	19780613	T	C	18	22200650	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	6.27913016589003E-5	0.022
18	19780613	T	G	18	22200650	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.00148822181024662	0.142
18	19780614	G	A	18	22200651	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	8.74864207358876E-5	0.012
18	19780614	G	C	18	22200651	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	2.63697455813221E-4	0.008
18	19780614	G	T	18	22200651	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	1.5769764610876E-4	0.012
18	19780615	C	A	18	22200652	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	8.7283767950769E-5	0.004
18	19780615	C	G	18	22200652	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	1.42702983833646E-4	0.026
18	19780615	C	T	18	22200652	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	1.72326328159776E-4	0.01
18	19780616	C	A	18	22200653	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.995318555975563	0.9
18	19780616	C	G	18	22200653	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.999461617836309	0.966
18	19780616	C	T	18	22200653	y	n	intronic	GATA6	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.360494030217524	0.152
18	19780617	A	C	18	22200654	y	n	splicing	GATA6(NM_005257:exon7:c.1621-2A>C)	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.999988247793601	0.928
18	19780617	A	G	18	22200654	y	n	splicing	GATA6(NM_005257:exon7:c.1621-2A>G)	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.999988247793601	0.928
18	19780617	A	T	18	22200654	y	n	splicing	GATA6(NM_005257:exon7:c.1621-2A>T)	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.999988247793601	0.93
18	19780618	G	A	18	22200655	y	n	splicing	GATA6(NM_005257:exon7:c.1621-1G>A)	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.999989263107695	0.936
18	19780618	G	C	18	22200655	y	n	splicing	GATA6(NM_005257:exon7:c.1621-1G>C)	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.999989263107695	0.926
18	19780618	G	T	18	22200655	y	n	splicing	GATA6(NM_005257:exon7:c.1621-1G>T)	.	.	ncRNA_exonic	ENSG00000266283	.	.	0.999989263107695	0.936
18	19780619	G	A	18	22200656	y	n	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon7:c.G1621A:p.A541T;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon6:c.G1621A:p.A541T;ENSG00000141448:ENST00000269216:exon7:c.G1621A:p.A541T;	0.998753552792254	0.862
18	19780619	G	C	18	22200656	y	n	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon7:c.G1621C:p.A541P;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon6:c.G1621C:p.A541P;ENSG00000141448:ENST00000269216:exon7:c.G1621C:p.A541P;	0.999661811427311	0.982
18	19780619	G	T	18	22200656	y	n	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon7:c.G1621T:p.A541S;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon6:c.G1621T:p.A541S;ENSG00000141448:ENST00000269216:exon7:c.G1621T:p.A541S;	0.999544782789587	0.966
18	19780620	C	A	18	22200657	y	n	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon7:c.C1622A:p.A541E;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon6:c.C1622A:p.A541E;ENSG00000141448:ENST00000269216:exon7:c.C1622A:p.A541E;	0.0304214613241077	0.122
18	19780620	C	G	18	22200657	y	n	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon7:c.C1622G:p.A541G;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon6:c.C1622G:p.A541G;ENSG00000141448:ENST00000269216:exon7:c.C1622G:p.A541G;	8.3373271241709E-4	0.068
18	19780620	C	T	18	22200657	y	n	exonic	GATA6	nonsynonymous SNV	GATA6:NM_005257:exon7:c.C1622T:p.A541V;	exonic	ENSG00000141448	nonsynonymous SNV	ENSG00000141448:ENST00000581694:exon6:c.C1622T:p.A541V;ENSG00000141448:ENST00000269216:exon7:c.C1622T:p.A541V;	4.54542919227637E-4	0.144
18	20513525	G	A	18	22933562	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.00490115302781494	0.07
18	20513525	G	C	18	22933562	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.00493052849475718	0.02
18	20513525	G	T	18	22933562	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.111855273965754	0.268
18	20513526	C	A	18	22933563	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.00758873244009573	0.118
18	20513526	C	G	18	22933563	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.0974667565685183	0.208
18	20513526	C	T	18	22933563	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.0913519030364613	0.292
18	20513527	G	A	18	22933564	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.957780049565841	0.738
18	20513527	G	C	18	22933564	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.989206554780279	0.582
18	20513527	G	T	18	22933564	y	y	UTR5	RBBP8	.	.	ncRNA_UTR5	ENSG00000101773	.	.	0.980442820364352	0.74
18	20513528	G	A	18	22933565	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999993519952936	0.926
18	20513528	G	C	18	22933565	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999991582404039	0.926
18	20513528	G	T	18	22933565	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999991582404039	0.926
18	20513529	T	A	18	22933566	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999949366401994	0.892
18	20513529	T	C	18	22933566	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999795124883241	0.892
18	20513529	T	G	18	22933566	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999949366401994	0.892
18	20513530	G	A	18	22933567	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	4.97177218391189E-4	0.002
18	20513530	G	C	18	22933567	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.989623990166824	0.858
18	20513530	G	T	18	22933567	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.991045806512797	0.812
18	20513531	A	C	18	22933568	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.837294107370852	0.408
18	20513531	A	G	18	22933568	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.949033495631773	0.678
18	20513531	A	T	18	22933568	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.983889893359264	0.712
18	20513532	G	A	18	22933569	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.999870902468165	0.936
18	20513532	G	C	18	22933569	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.999891817662985	0.93
18	20513532	G	T	18	22933569	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.999969922652907	0.966
18	20513533	T	A	18	22933570	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.984490556191614	0.784
18	20513533	T	C	18	22933570	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.984972124614315	0.754
18	20513533	T	G	18	22933570	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	0.969754306573488	0.764
18	20513534	A	C	18	22933571	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	1.19283627028539E-4	0.004
18	20513534	A	G	18	22933571	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	3.13468175198099E-4	0.004
18	20513534	A	T	18	22933571	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	1.23475123757698E-4	0.01
18	20513535	A	C	18	22933572	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	2.65837336584479E-4	0.008
18	20513535	A	G	18	22933572	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	2.72921857239455E-4	0.008
18	20513535	A	T	18	22933572	y	y	intronic	RBBP8	.	.	ncRNA_intronic	ENSG00000265943	.	.	1.06727839499636E-4	0.004
18	20514039	T	A	18	22934076	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	6.90866578596279E-5	0.0
18	20514039	T	C	18	22934076	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.80109675654916E-5	0.0
18	20514039	T	G	18	22934076	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.80109675654916E-5	0.0
18	20514040	T	A	18	22934077	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.50312366030491E-5	0.0
18	20514040	T	C	18	22934077	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.68433810549259E-5	0.002
18	20514040	T	G	18	22934077	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	6.36710167771019E-5	0.0
18	20514041	G	A	18	22934078	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.82827935381688E-5	0.004
18	20514041	G	C	18	22934078	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.82827935381688E-5	0.004
18	20514041	G	T	18	22934078	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.82827935381688E-5	0.004
18	20514042	G	A	18	22934079	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	1.10275622159801E-5	0.0
18	20514042	G	C	18	22934079	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	1.10275622159801E-5	0.0
18	20514042	G	T	18	22934079	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	1.10275622159801E-5	0.0
18	20514043	T	A	18	22934080	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	7.97552862615456E-6	0.0
18	20514043	T	C	18	22934080	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	7.97552862615456E-6	0.0
18	20514043	T	G	18	22934080	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	7.97552862615456E-6	0.0
18	20514044	G	A	18	22934081	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.3994564522384E-5	0.02
18	20514044	G	C	18	22934081	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.3994564522384E-5	0.022
18	20514044	G	T	18	22934081	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.3994564522384E-5	0.02
18	20514045	A	C	18	22934082	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.15941453541388E-5	0.002
18	20514045	A	G	18	22934082	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.15941453541388E-5	0.002
18	20514045	A	T	18	22934082	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.15941453541388E-5	0.002
18	20514046	G	A	18	22934083	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	6.552751562108E-5	0.006
18	20514046	G	C	18	22934083	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	6.552751562108E-5	0.004
18	20514046	G	T	18	22934083	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	6.552751562108E-5	0.004
18	20514047	C	A	18	22934084	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	4.09469023002838E-4	0.004
18	20514047	C	G	18	22934084	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	4.09469023002838E-4	0.004
18	20514047	C	T	18	22934084	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.59435642788644E-4	0.004
18	20514048	A	C	18	22934085	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	4.90028566392549E-5	0.002
18	20514048	A	G	18	22934085	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	4.90028566392549E-5	0.002
18	20514048	A	T	18	22934085	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	4.90028566392549E-5	0.002
18	20514049	C	A	18	22934086	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.02642503822698E-5	0.002
18	20514049	C	G	18	22934086	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.02642503822698E-5	0.002
18	20514049	C	T	18	22934086	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.02642503822698E-5	0.002
18	20514120	G	A	18	22934157	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.7106675465155E-5	0.0
18	20514120	G	C	18	22934157	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.7106675465155E-5	0.0
18	20514120	G	T	18	22934157	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.7106675465155E-5	0.0
18	20514121	A	C	18	22934158	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00149864923876713	0.07
18	20514121	A	G	18	22934158	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00149864923876713	0.07
18	20514121	A	T	18	22934158	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00210737340382543	0.082
18	20514122	G	A	18	22934159	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.40839623268995E-5	0.0
18	20514122	G	C	18	22934159	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	4.90028566392549E-5	0.002
18	20514122	G	T	18	22934159	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	4.90028566392549E-5	0.0
18	20514123	G	A	18	22934160	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	7.5364181533214E-5	0.004
18	20514123	G	C	18	22934160	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	7.5364181533214E-5	0.0
18	20514123	G	T	18	22934160	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	7.5364181533214E-5	0.0
18	20514124	T	A	18	22934161	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	5.15941453541388E-5	0.004
18	20514124	T	C	18	22934161	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	5.15941453541388E-5	0.004
18	20514124	T	G	18	22934161	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	5.15941453541388E-5	0.004
18	20514125	A	C	18	22934162	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	6.90866578596279E-5	0.0
18	20514125	A	G	18	22934162	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	6.90866578596279E-5	0.0
18	20514125	A	T	18	22934162	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.62500938860321E-5	0.0
18	20514126	A	C	18	22934163	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.39457982047225E-5	0.0
18	20514126	A	G	18	22934163	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.39457982047225E-5	0.0
18	20514126	A	T	18	22934163	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.86764315709017E-5	0.0
18	20514127	G	A	18	22934164	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.59435642788644E-4	0.004
18	20514127	G	C	18	22934164	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.59435642788644E-4	0.004
18	20514127	G	T	18	22934164	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.59435642788644E-4	0.004
18	20514128	A	C	18	22934165	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.39457982047225E-5	0.0
18	20514128	A	G	18	22934165	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.39457982047225E-5	0.0
18	20514128	A	T	18	22934165	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.86764315709017E-5	0.0
18	20514129	C	A	18	22934166	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	8.07028132666917E-5	0.004
18	20514129	C	G	18	22934166	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	8.07028132666917E-5	0.004
18	20514129	C	T	18	22934166	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	8.07028132666917E-5	0.006
18	20514130	G	A	18	22934167	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00141159556750405	0.02
18	20514130	G	C	18	22934167	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.59435642788644E-4	0.018
18	20514130	G	T	18	22934167	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.59435642788644E-4	0.018
18	20514225	C	A	18	22934262	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.45204556660269E-4	0.028
18	20514225	C	G	18	22934262	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.45204556660269E-4	0.028
18	20514225	C	T	18	22934262	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.45204556660269E-4	0.028
18	20514226	G	A	18	22934263	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.52881759733747E-5	0.0
18	20514226	G	C	18	22934263	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.52881759733747E-5	0.0
18	20514226	G	T	18	22934263	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.52881759733747E-5	0.0
18	20514227	G	A	18	22934264	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.86359644168464E-5	0.012
18	20514227	G	C	18	22934264	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.65388135286213E-5	0.012
18	20514227	G	T	18	22934264	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.86359644168464E-5	0.012
18	20514228	G	A	18	22934265	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	3.01578748569253E-5	0.002
18	20514228	G	C	18	22934265	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	1.95241758590049E-5	0.002
18	20514228	G	T	18	22934265	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	3.01578748569253E-5	0.002
18	20514229	T	A	18	22934266	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	2.12967705479703E-5	0.002
18	20514229	T	C	18	22934266	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	2.12967705479703E-5	0.002
18	20514229	T	G	18	22934266	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	2.12967705479703E-5	0.002
18	20514230	A	C	18	22934267	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.45170072801036E-5	0.016
18	20514230	A	G	18	22934267	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.45170072801036E-5	0.016
18	20514230	A	T	18	22934267	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.45170072801036E-5	0.016
18	20514231	G	A	18	22934268	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.7106675465155E-5	0.0
18	20514231	G	C	18	22934268	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.89210916601576E-5	0.0
18	20514231	G	T	18	22934268	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.7106675465155E-5	0.0
18	20514232	G	A	18	22934269	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.30945796578933E-5	0.0
18	20514232	G	C	18	22934269	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.52881759733747E-5	0.0
18	20514232	G	T	18	22934269	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.52881759733747E-5	0.0
18	20514233	T	A	18	22934270	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.62965044666173E-5	0.0
18	20514233	T	C	18	22934270	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.62965044666173E-5	0.0
18	20514233	T	G	18	22934270	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.62965044666173E-5	0.0
18	20514234	G	A	18	22934271	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.97104693658708E-4	0.002
18	20514234	G	C	18	22934271	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.45204556660269E-4	0.002
18	20514234	G	T	18	22934271	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.46278141447307E-4	0.002
18	20514235	G	A	18	22934272	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.97104693658708E-4	0.016
18	20514235	G	C	18	22934272	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.93205691184333E-4	0.016
18	20514235	G	T	18	22934272	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.97104693658708E-4	0.016
18	20514735	G	A	18	22934772	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.13427777129945E-5	0.0
18	20514735	G	C	18	22934772	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.13427777129945E-5	0.0
18	20514735	G	T	18	22934772	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.13427777129945E-5	0.0
18	20514736	A	C	18	22934773	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.44385453626159E-5	0.012
18	20514736	A	G	18	22934773	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.44385453626159E-5	0.01
18	20514736	A	T	18	22934773	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	5.44385453626159E-5	0.006
18	20514737	G	A	18	22934774	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.6128894829304E-5	0.0
18	20514737	G	C	18	22934774	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.6128894829304E-5	0.0
18	20514737	G	T	18	22934774	n	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	2.6128894829304E-5	0.0
18	20514738	G	A	18	22934775	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.00169046281660859	0.016
18	20514738	G	C	18	22934775	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	6.30557807187991E-4	0.01
18	20514738	G	T	18	22934775	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	6.30557807187991E-4	0.01
18	20514739	T	A	18	22934776	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.00199590941298324	0.006
18	20514739	T	C	18	22934776	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.00110797651291257	0.0
18	20514739	T	G	18	22934776	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.00110797651291257	0.0
18	20514740	A	C	18	22934777	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.59636133280018E-4	0.0
18	20514740	A	G	18	22934777	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.88491508750615E-4	0.0
18	20514740	A	T	18	22934777	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00110797651291257	0.0
18	20514741	T	A	18	22934778	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.25762508039554E-5	0.0
18	20514741	T	C	18	22934778	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.25762508039554E-5	0.0
18	20514741	T	G	18	22934778	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.25762508039554E-5	0.0
18	20514742	T	A	18	22934779	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.93750929994865E-5	0.0
18	20514742	T	C	18	22934779	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.44366834656947E-5	0.002
18	20514742	T	G	18	22934779	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.44366834656947E-5	0.0
18	20514743	T	A	18	22934780	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.93750929994865E-5	0.0
18	20514743	T	C	18	22934780	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.44366834656947E-5	0.004
18	20514743	T	G	18	22934780	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.44366834656947E-5	0.002
18	20514744	T	A	18	22934781	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.002
18	20514744	T	C	18	22934781	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.002
18	20514744	T	G	18	22934781	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.002
18	20514745	A	C	18	22934782	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.6128894829304E-5	0.0
18	20514745	A	G	18	22934782	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.6128894829304E-5	0.0
18	20514745	A	T	18	22934782	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.84767321715395E-5	0.0
18	20516705	C	A	18	22936742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00629979483614282	0.134
18	20516705	C	G	18	22936742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00166999649619659	0.05
18	20516705	C	T	18	22936742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.02203595897681E-4	0.008
18	20516706	T	A	18	22936743	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999941307124647	0.972
18	20516706	T	C	18	22936743	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.037020786322415	0.334
18	20516706	T	G	18	22936743	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.987902735646704	0.756
18	20516707	G	A	18	22936744	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.41885133993062E-4	0.05
18	20516707	G	C	18	22936744	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.13877380943563E-4	0.002
18	20516707	G	T	18	22936744	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.62111685949162E-4	0.002
18	20516708	T	A	18	22936745	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997160802779124	0.896
18	20516708	T	C	18	22936745	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0739857957451868	0.234
18	20516708	T	G	18	22936745	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.994256041876972	0.882
18	20516709	C	A	18	22936746	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0021871615951851	0.026
18	20516709	C	G	18	22936746	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00143127766639012	0.038
18	20516709	C	T	18	22936746	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.73525855639469E-5	0.002
18	20516710	A	C	18	22936747	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.64236774801816E-5	0.022
18	20516710	A	G	18	22936747	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.72125106867604E-5	0.002
18	20516710	A	T	18	22936747	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.38899138490537E-4	0.01
18	20516711	T	A	18	22936748	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.140151698308793	0.522
18	20516711	T	C	18	22936748	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.89474312252571E-4	0.028
18	20516711	T	G	18	22936748	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999914507014373	0.98
18	20516712	T	A	18	22936749	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.986121266522187	0.706
18	20516712	T	C	18	22936749	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.157493787862488	0.164
18	20516712	T	G	18	22936749	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.906294138729917	0.648
18	20516713	T	A	18	22936750	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00260952876547593	0.104
18	20516713	T	C	18	22936750	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00318094888938284	0.038
18	20516713	T	G	18	22936750	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.60004514188154E-4	0.036
18	20516714	C	A	18	22936751	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.277405052891471	0.504
18	20516714	C	G	18	22936751	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999707221789348	0.964
18	20516714	C	T	18	22936751	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00120339881039339	0.076
18	20516715	A	C	18	22936752	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999955521744805	0.932
18	20516715	A	G	18	22936752	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999955521744805	0.932
18	20516715	A	T	18	22936752	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999955521744805	0.936
18	20516716	G	A	18	22936753	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999915710762489	0.944
18	20516716	G	C	18	22936753	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999915710762489	0.954
18	20516716	G	T	18	22936753	y	y	splicing	RBBP8	.	.	splicing	ENSG00000101773	.	.	0.999915710762489	0.944
18	20516717	G	A	18	22936754	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00322927667283797	0.068
18	20516717	G	C	18	22936754	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.138870293673967	0.29
18	20516717	G	T	18	22936754	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.687751430374285	0.438
18	20516718	T	A	18	22936755	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00213818284229383	0.208
18	20516718	T	C	18	22936755	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0042162385092246	0.134
18	20516718	T	G	18	22936755	y	y	UTR5	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00315797986565466	0.122
18	20516921	A	C	18	22936958	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon2:c.A107C:p.Q36P;RBBP8:NM_203292:exon2:c.A107C:p.Q36P;RBBP8:NM_203291:exon2:c.A107C:p.Q36P;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.A107C:p.Q36P;ENSG00000101773:ENST00000327155:exon2:c.A107C:p.Q36P;ENSG00000101773:ENST00000399725:exon2:c.A107C:p.Q36P;ENSG00000101773:ENST00000399722:exon2:c.A107C:p.Q36P;ENSG00000101773:ENST00000583594:exon2:c.A107C:p.Q36P;ENSG00000101773:ENST00000581819:exon3:c.A107C:p.Q36P;ENSG00000101773:ENST00000582354:exon4:c.A107C:p.Q36P;ENSG00000101773:ENST00000399721:exon2:c.A107C:p.Q36P;ENSG00000101773:ENST00000360790:exon2:c.A107C:p.Q36P;	0.748670074788938	0.718
18	20516921	A	G	18	22936958	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon2:c.A107G:p.Q36R;RBBP8:NM_203292:exon2:c.A107G:p.Q36R;RBBP8:NM_203291:exon2:c.A107G:p.Q36R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.A107G:p.Q36R;ENSG00000101773:ENST00000327155:exon2:c.A107G:p.Q36R;ENSG00000101773:ENST00000399725:exon2:c.A107G:p.Q36R;ENSG00000101773:ENST00000399722:exon2:c.A107G:p.Q36R;ENSG00000101773:ENST00000583594:exon2:c.A107G:p.Q36R;ENSG00000101773:ENST00000581819:exon3:c.A107G:p.Q36R;ENSG00000101773:ENST00000582354:exon4:c.A107G:p.Q36R;ENSG00000101773:ENST00000399721:exon2:c.A107G:p.Q36R;ENSG00000101773:ENST00000360790:exon2:c.A107G:p.Q36R;	0.0778954136669996	0.432
18	20516921	A	T	18	22936958	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon2:c.A107T:p.Q36L;RBBP8:NM_203292:exon2:c.A107T:p.Q36L;RBBP8:NM_203291:exon2:c.A107T:p.Q36L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.A107T:p.Q36L;ENSG00000101773:ENST00000327155:exon2:c.A107T:p.Q36L;ENSG00000101773:ENST00000399725:exon2:c.A107T:p.Q36L;ENSG00000101773:ENST00000399722:exon2:c.A107T:p.Q36L;ENSG00000101773:ENST00000583594:exon2:c.A107T:p.Q36L;ENSG00000101773:ENST00000581819:exon3:c.A107T:p.Q36L;ENSG00000101773:ENST00000582354:exon4:c.A107T:p.Q36L;ENSG00000101773:ENST00000399721:exon2:c.A107T:p.Q36L;ENSG00000101773:ENST00000360790:exon2:c.A107T:p.Q36L;	0.990912685727925	0.802
18	20516922	A	C	18	22936959	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon2:c.A108C:p.Q36H;RBBP8:NM_203292:exon2:c.A108C:p.Q36H;RBBP8:NM_203291:exon2:c.A108C:p.Q36H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.A108C:p.Q36H;ENSG00000101773:ENST00000327155:exon2:c.A108C:p.Q36H;ENSG00000101773:ENST00000399725:exon2:c.A108C:p.Q36H;ENSG00000101773:ENST00000399722:exon2:c.A108C:p.Q36H;ENSG00000101773:ENST00000583594:exon2:c.A108C:p.Q36H;ENSG00000101773:ENST00000581819:exon3:c.A108C:p.Q36H;ENSG00000101773:ENST00000582354:exon4:c.A108C:p.Q36H;ENSG00000101773:ENST00000399721:exon2:c.A108C:p.Q36H;ENSG00000101773:ENST00000360790:exon2:c.A108C:p.Q36H;	0.93087493724913	0.666
18	20516922	A	G	18	22936959	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon2:c.A108G:p.Q36Q;RBBP8:NM_203292:exon2:c.A108G:p.Q36Q;RBBP8:NM_203291:exon2:c.A108G:p.Q36Q;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.A108G:p.Q36Q;ENSG00000101773:ENST00000327155:exon2:c.A108G:p.Q36Q;ENSG00000101773:ENST00000399725:exon2:c.A108G:p.Q36Q;ENSG00000101773:ENST00000399722:exon2:c.A108G:p.Q36Q;ENSG00000101773:ENST00000583594:exon2:c.A108G:p.Q36Q;ENSG00000101773:ENST00000581819:exon3:c.A108G:p.Q36Q;ENSG00000101773:ENST00000582354:exon4:c.A108G:p.Q36Q;ENSG00000101773:ENST00000399721:exon2:c.A108G:p.Q36Q;ENSG00000101773:ENST00000360790:exon2:c.A108G:p.Q36Q;	0.993361784913534	0.83
18	20516922	A	T	18	22936959	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon2:c.A108T:p.Q36H;RBBP8:NM_203292:exon2:c.A108T:p.Q36H;RBBP8:NM_203291:exon2:c.A108T:p.Q36H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.A108T:p.Q36H;ENSG00000101773:ENST00000327155:exon2:c.A108T:p.Q36H;ENSG00000101773:ENST00000399725:exon2:c.A108T:p.Q36H;ENSG00000101773:ENST00000399722:exon2:c.A108T:p.Q36H;ENSG00000101773:ENST00000583594:exon2:c.A108T:p.Q36H;ENSG00000101773:ENST00000581819:exon3:c.A108T:p.Q36H;ENSG00000101773:ENST00000582354:exon4:c.A108T:p.Q36H;ENSG00000101773:ENST00000399721:exon2:c.A108T:p.Q36H;ENSG00000101773:ENST00000360790:exon2:c.A108T:p.Q36H;	0.998065588246728	0.902
18	20516923	G	A	18	22936960	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon2:c.G109A:p.G37S;RBBP8:NM_203292:exon2:c.G109A:p.G37S;RBBP8:NM_203291:exon2:c.G109A:p.G37S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.G109A:p.G37S;ENSG00000101773:ENST00000327155:exon2:c.G109A:p.G37S;ENSG00000101773:ENST00000399725:exon2:c.G109A:p.G37S;ENSG00000101773:ENST00000399722:exon2:c.G109A:p.G37S;ENSG00000101773:ENST00000583594:exon2:c.G109A:p.A37T;ENSG00000101773:ENST00000581819:exon3:c.G109A:p.G37S;ENSG00000101773:ENST00000582354:exon4:c.G109A:p.G37S;ENSG00000101773:ENST00000399721:exon2:c.G109A:p.G37S;ENSG00000101773:ENST00000360790:exon2:c.G109A:p.G37S;	0.999990794728237	1.0
18	20516923	G	C	18	22936960	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon2:c.G109C:p.G37R;RBBP8:NM_203292:exon2:c.G109C:p.G37R;RBBP8:NM_203291:exon2:c.G109C:p.G37R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.G109C:p.G37R;ENSG00000101773:ENST00000327155:exon2:c.G109C:p.G37R;ENSG00000101773:ENST00000399725:exon2:c.G109C:p.G37R;ENSG00000101773:ENST00000399722:exon2:c.G109C:p.G37R;ENSG00000101773:ENST00000583594:exon2:c.G109C:p.A37P;ENSG00000101773:ENST00000581819:exon3:c.G109C:p.G37R;ENSG00000101773:ENST00000582354:exon4:c.G109C:p.G37R;ENSG00000101773:ENST00000399721:exon2:c.G109C:p.G37R;ENSG00000101773:ENST00000360790:exon2:c.G109C:p.G37R;	0.99999706064642	1.0
18	20516923	G	T	18	22936960	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon2:c.G109T:p.G37C;RBBP8:NM_203292:exon2:c.G109T:p.G37C;RBBP8:NM_203291:exon2:c.G109T:p.G37C;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon3:c.G109T:p.G37C;ENSG00000101773:ENST00000327155:exon2:c.G109T:p.G37C;ENSG00000101773:ENST00000399725:exon2:c.G109T:p.G37C;ENSG00000101773:ENST00000399722:exon2:c.G109T:p.G37C;ENSG00000101773:ENST00000583594:exon2:c.G109T:p.A37S;ENSG00000101773:ENST00000581819:exon3:c.G109T:p.G37C;ENSG00000101773:ENST00000582354:exon4:c.G109T:p.G37C;ENSG00000101773:ENST00000399721:exon2:c.G109T:p.G37C;ENSG00000101773:ENST00000360790:exon2:c.G109T:p.G37C;	0.999987469944553	1.0
18	20516924	G	A	18	22936961	y	y	splicing	RBBP8(NM_002894:exon2:c.109+1G>A;NM_203292:exon2:c.109+1G>A;NM_203291:exon2:c.109+1G>A)	.	.	splicing	ENSG00000101773(ENST00000579124:exon3:c.109+1G>A;ENST00000582354:exon4:c.109+1G>A;ENST00000581819:exon3:c.109+1G>A;ENST00000327155:exon2:c.109+1G>A;ENST00000399722:exon2:c.109+1G>A;ENST00000399725:exon2:c.109+1G>A;ENST00000399721:exon2:c.109+1G>A;ENST00000583594:exon2:c.109+1G>A;ENST00000360790:exon2:c.109+1G>A)	.	.	0.999979023971766	0.93
18	20516924	G	C	18	22936961	y	y	splicing	RBBP8(NM_002894:exon2:c.109+1G>C;NM_203292:exon2:c.109+1G>C;NM_203291:exon2:c.109+1G>C)	.	.	splicing	ENSG00000101773(ENST00000579124:exon3:c.109+1G>C;ENST00000582354:exon4:c.109+1G>C;ENST00000581819:exon3:c.109+1G>C;ENST00000327155:exon2:c.109+1G>C;ENST00000399722:exon2:c.109+1G>C;ENST00000399725:exon2:c.109+1G>C;ENST00000399721:exon2:c.109+1G>C;ENST00000583594:exon2:c.109+1G>C;ENST00000360790:exon2:c.109+1G>C)	.	.	0.999979023971766	0.93
18	20516924	G	T	18	22936961	y	y	splicing	RBBP8(NM_002894:exon2:c.109+1G>T;NM_203292:exon2:c.109+1G>T;NM_203291:exon2:c.109+1G>T)	.	.	splicing	ENSG00000101773(ENST00000579124:exon3:c.109+1G>T;ENST00000582354:exon4:c.109+1G>T;ENST00000581819:exon3:c.109+1G>T;ENST00000327155:exon2:c.109+1G>T;ENST00000399722:exon2:c.109+1G>T;ENST00000399725:exon2:c.109+1G>T;ENST00000399721:exon2:c.109+1G>T;ENST00000583594:exon2:c.109+1G>T;ENST00000360790:exon2:c.109+1G>T)	.	.	0.999979023971766	0.93
18	20516925	T	A	18	22936962	y	y	splicing	RBBP8(NM_002894:exon2:c.109+2T>A;NM_203292:exon2:c.109+2T>A;NM_203291:exon2:c.109+2T>A)	.	.	splicing	ENSG00000101773(ENST00000579124:exon3:c.109+2T>A;ENST00000582354:exon4:c.109+2T>A;ENST00000581819:exon3:c.109+2T>A;ENST00000327155:exon2:c.109+2T>A;ENST00000399722:exon2:c.109+2T>A;ENST00000399725:exon2:c.109+2T>A;ENST00000399721:exon2:c.109+2T>A;ENST00000583594:exon2:c.109+2T>A;ENST00000360790:exon2:c.109+2T>A)	.	.	0.999986607513753	0.916
18	20516925	T	C	18	22936962	y	y	splicing	RBBP8(NM_002894:exon2:c.109+2T>C;NM_203292:exon2:c.109+2T>C;NM_203291:exon2:c.109+2T>C)	.	.	splicing	ENSG00000101773(ENST00000579124:exon3:c.109+2T>C;ENST00000582354:exon4:c.109+2T>C;ENST00000581819:exon3:c.109+2T>C;ENST00000327155:exon2:c.109+2T>C;ENST00000399722:exon2:c.109+2T>C;ENST00000399725:exon2:c.109+2T>C;ENST00000399721:exon2:c.109+2T>C;ENST00000583594:exon2:c.109+2T>C;ENST00000360790:exon2:c.109+2T>C)	.	.	0.989657789261859	0.594
18	20516925	T	G	18	22936962	y	y	splicing	RBBP8(NM_002894:exon2:c.109+2T>G;NM_203292:exon2:c.109+2T>G;NM_203291:exon2:c.109+2T>G)	.	.	splicing	ENSG00000101773(ENST00000579124:exon3:c.109+2T>G;ENST00000582354:exon4:c.109+2T>G;ENST00000581819:exon3:c.109+2T>G;ENST00000327155:exon2:c.109+2T>G;ENST00000399722:exon2:c.109+2T>G;ENST00000399725:exon2:c.109+2T>G;ENST00000399721:exon2:c.109+2T>G;ENST00000583594:exon2:c.109+2T>G;ENST00000360790:exon2:c.109+2T>G)	.	.	0.999986607513753	0.916
18	20516926	A	C	18	22936963	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999928524282777	0.994
18	20516926	A	G	18	22936963	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998962975987133	0.942
18	20516926	A	T	18	22936963	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999896647796989	0.988
18	20516927	A	C	18	22936964	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.3507971701884	0.314
18	20516927	A	G	18	22936964	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.626919900330007	0.448
18	20516927	A	T	18	22936964	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.860083921076427	0.442
18	20516928	A	C	18	22936965	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.36378048633898E-4	0.066
18	20516928	A	G	18	22936965	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.46631487479998E-4	0.052
18	20516928	A	T	18	22936965	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.48420535613353E-4	0.144
18	20516929	A	C	18	22936966	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.14879408322003E-5	0.024
18	20516929	A	G	18	22936966	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.17614699331305E-5	0.0
18	20516929	A	T	18	22936966	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.30996046402717E-5	0.0
18	20516930	T	A	18	22936967	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.83277102901073E-5	0.0
18	20516930	T	C	18	22936967	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.83277102901073E-5	0.0
18	20516930	T	G	18	22936967	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.78389654127837E-5	0.002
18	20516931	C	A	18	22936968	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.33316061012953E-5	0.0
18	20516931	C	G	18	22936968	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.89441436649338E-5	0.0
18	20516931	C	T	18	22936968	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.51753233322841E-5	0.0
18	20517011	T	A	18	22937048	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.24448153445642E-4	0.06
18	20517011	T	C	18	22937048	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.24448153445642E-4	0.056
18	20517011	T	G	18	22937048	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.24448153445642E-4	0.056
18	20517012	T	A	18	22937049	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.37501361942679E-5	0.002
18	20517012	T	C	18	22937049	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.37501361942679E-5	0.012
18	20517012	T	G	18	22937049	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.37501361942679E-5	0.02
18	20517013	T	A	18	22937050	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.24448153445642E-4	0.062
18	20517013	T	C	18	22937050	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.24448153445642E-4	0.056
18	20517013	T	G	18	22937050	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.24448153445642E-4	0.056
18	20517014	C	A	18	22937051	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.0288925866825E-5	0.004
18	20517014	C	G	18	22937051	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.0288925866825E-5	0.004
18	20517014	C	T	18	22937051	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.0288925866825E-5	0.004
18	20517015	T	A	18	22937052	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.57123356397867E-5	0.02
18	20517015	T	C	18	22937052	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.19654958573966E-5	0.02
18	20517015	T	G	18	22937052	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.19654958573966E-5	0.02
18	20517016	A	C	18	22937053	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.46004206284423E-5	0.002
18	20517016	A	G	18	22937053	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.46004206284423E-5	0.002
18	20517016	A	T	18	22937053	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.46004206284423E-5	0.002
18	20517017	T	A	18	22937054	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.57123356397867E-5	0.02
18	20517017	T	C	18	22937054	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.19654958573966E-5	0.02
18	20517017	T	G	18	22937054	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.19654958573966E-5	0.02
18	20517018	T	A	18	22937055	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.57123356397867E-5	0.012
18	20517018	T	C	18	22937055	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.19654958573966E-5	0.014
18	20517018	T	G	18	22937055	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.19654958573966E-5	0.014
18	20517019	T	A	18	22937056	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.57123356397867E-5	0.012
18	20517019	T	C	18	22937056	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.19654958573966E-5	0.014
18	20517019	T	G	18	22937056	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.19654958573966E-5	0.014
18	20517020	C	A	18	22937057	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.90177193295887E-6	0.002
18	20517020	C	G	18	22937057	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.90177193295887E-6	0.002
18	20517020	C	T	18	22937057	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.90177193295887E-6	0.002
18	20517021	A	C	18	22937058	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000583594:exon3:c.110-2A>C)	.	.	1.0288925866825E-5	0.008
18	20517021	A	G	18	22937058	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000583594:exon3:c.110-2A>G)	.	.	1.0288925866825E-5	0.002
18	20517021	A	T	18	22937058	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000583594:exon3:c.110-2A>T)	.	.	1.58927937202005E-5	0.004
18	20517022	G	A	18	22937059	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000583594:exon3:c.110-1G>A)	.	.	1.99153316237132E-5	0.0
18	20517022	G	C	18	22937059	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000583594:exon3:c.110-1G>C)	.	.	1.99153316237132E-5	0.0
18	20517022	G	T	18	22937059	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000583594:exon3:c.110-1G>T)	.	.	1.99153316237132E-5	0.0
18	20517023	C	A	18	22937060	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000583594:exon3:c.C110A:p.A37D;	1.47800409892608E-4	0.036
18	20517023	C	G	18	22937060	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000583594:exon3:c.C110G:p.A37G;	1.47800409892608E-4	0.036
18	20517023	C	T	18	22937060	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000583594:exon3:c.C110T:p.A37V;	3.50764387530968E-4	0.046
18	20517024	T	A	18	22937061	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000583594:exon3:c.T111A:p.A37A;	9.57123356397867E-5	0.012
18	20517024	T	C	18	22937061	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000583594:exon3:c.T111C:p.A37A;	9.57123356397867E-5	0.012
18	20517024	T	G	18	22937061	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000583594:exon3:c.T111G:p.A37A;	9.57123356397867E-5	0.012
18	20526395	T	A	18	22946432	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0014500501368076	0.288
18	20526395	T	C	18	22946432	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.8898139186524E-4	0.046
18	20526395	T	G	18	22946432	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.62154602613871E-4	0.208
18	20526396	T	A	18	22946433	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.31546227918532E-5	0.024
18	20526396	T	C	18	22946433	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.42230451671951E-5	0.002
18	20526396	T	G	18	22946433	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.00491525134216E-5	0.02
18	20526397	T	A	18	22946434	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.71457549101143E-4	0.124
18	20526397	T	C	18	22946434	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.61025068102731E-4	0.004
18	20526397	T	G	18	22946434	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.65018735977768E-4	0.132
18	20526398	A	C	18	22946435	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.07617565467451E-5	0.0
18	20526398	A	G	18	22946435	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.99303112095877E-5	0.0
18	20526398	A	T	18	22946435	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.44515833209759E-5	0.0
18	20526399	C	A	18	22946436	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.70880713667967E-5	0.018
18	20526399	C	G	18	22946436	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.966072471633297	0.942
18	20526399	C	T	18	22946436	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.19052379820202E-5	0.016
18	20526400	T	A	18	22946437	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00278705094924166	0.13
18	20526400	T	C	18	22946437	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.73110398366398E-4	0.034
18	20526400	T	G	18	22946437	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00115768158787174	0.124
18	20526401	T	A	18	22946438	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.77015434876627E-4	0.102
18	20526401	T	C	18	22946438	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.80619019730312E-4	0.028
18	20526401	T	G	18	22946438	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.77015434876627E-4	0.122
18	20526402	T	A	18	22946439	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.47429752813783E-4	0.172
18	20526402	T	C	18	22946439	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.96131456392647E-4	0.074
18	20526402	T	G	18	22946439	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.50023295865784E-4	0.186
18	20526403	T	A	18	22946440	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.14098303495442E-4	0.004
18	20526403	T	C	18	22946440	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.14244213576976E-5	0.004
18	20526403	T	G	18	22946440	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.8400162330518E-4	0.0
18	20526404	C	A	18	22946441	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.057090743306178	0.302
18	20526404	C	G	18	22946441	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.805755275213212	0.628
18	20526404	C	T	18	22946441	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.13708244479562E-4	0.104
18	20526405	A	C	18	22946442	y	y	splicing	RBBP8(NM_002894:exon3:c.110-2A>C;NM_203292:exon3:c.110-2A>C;NM_203291:exon3:c.110-2A>C)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.110-2A>C;ENST00000582354:exon5:c.110-2A>C;ENST00000581819:exon4:c.110-2A>C;ENST00000327155:exon3:c.110-2A>C;ENST00000399722:exon3:c.110-2A>C;ENST00000399725:exon3:c.110-2A>C;ENST00000399721:exon3:c.110-2A>C;ENST00000360790:exon3:c.110-2A>C)	.	.	0.999946188727699	0.942
18	20526405	A	G	18	22946442	y	y	splicing	RBBP8(NM_002894:exon3:c.110-2A>G;NM_203292:exon3:c.110-2A>G;NM_203291:exon3:c.110-2A>G)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.110-2A>G;ENST00000582354:exon5:c.110-2A>G;ENST00000581819:exon4:c.110-2A>G;ENST00000327155:exon3:c.110-2A>G;ENST00000399722:exon3:c.110-2A>G;ENST00000399725:exon3:c.110-2A>G;ENST00000399721:exon3:c.110-2A>G;ENST00000360790:exon3:c.110-2A>G)	.	.	0.999946188727699	0.94
18	20526405	A	T	18	22946442	y	y	splicing	RBBP8(NM_002894:exon3:c.110-2A>T;NM_203292:exon3:c.110-2A>T;NM_203291:exon3:c.110-2A>T)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.110-2A>T;ENST00000582354:exon5:c.110-2A>T;ENST00000581819:exon4:c.110-2A>T;ENST00000327155:exon3:c.110-2A>T;ENST00000399722:exon3:c.110-2A>T;ENST00000399725:exon3:c.110-2A>T;ENST00000399721:exon3:c.110-2A>T;ENST00000360790:exon3:c.110-2A>T)	.	.	0.999946188727699	0.932
18	20526406	G	A	18	22946443	y	y	splicing	RBBP8(NM_002894:exon3:c.110-1G>A;NM_203292:exon3:c.110-1G>A;NM_203291:exon3:c.110-1G>A)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.110-1G>A;ENST00000582354:exon5:c.110-1G>A;ENST00000581819:exon4:c.110-1G>A;ENST00000327155:exon3:c.110-1G>A;ENST00000399722:exon3:c.110-1G>A;ENST00000399725:exon3:c.110-1G>A;ENST00000399721:exon3:c.110-1G>A;ENST00000360790:exon3:c.110-1G>A)	.	.	0.999938422912956	0.948
18	20526406	G	C	18	22946443	y	y	splicing	RBBP8(NM_002894:exon3:c.110-1G>C;NM_203292:exon3:c.110-1G>C;NM_203291:exon3:c.110-1G>C)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.110-1G>C;ENST00000582354:exon5:c.110-1G>C;ENST00000581819:exon4:c.110-1G>C;ENST00000327155:exon3:c.110-1G>C;ENST00000399722:exon3:c.110-1G>C;ENST00000399725:exon3:c.110-1G>C;ENST00000399721:exon3:c.110-1G>C;ENST00000360790:exon3:c.110-1G>C)	.	.	0.999938990645747	0.948
18	20526406	G	T	18	22946443	y	y	splicing	RBBP8(NM_002894:exon3:c.110-1G>T;NM_203292:exon3:c.110-1G>T;NM_203291:exon3:c.110-1G>T)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.110-1G>T;ENST00000582354:exon5:c.110-1G>T;ENST00000581819:exon4:c.110-1G>T;ENST00000327155:exon3:c.110-1G>T;ENST00000399722:exon3:c.110-1G>T;ENST00000399725:exon3:c.110-1G>T;ENST00000399721:exon3:c.110-1G>T;ENST00000360790:exon3:c.110-1G>T)	.	.	0.999938422912956	0.948
18	20526407	G	A	18	22946444	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon3:c.G110A:p.G37D;RBBP8:NM_203292:exon3:c.G110A:p.G37D;RBBP8:NM_203291:exon3:c.G110A:p.G37D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.G110A:p.G37D;ENSG00000101773:ENST00000327155:exon3:c.G110A:p.G37D;ENSG00000101773:ENST00000399725:exon3:c.G110A:p.G37D;ENSG00000101773:ENST00000399722:exon3:c.G110A:p.G37D;ENSG00000101773:ENST00000581819:exon4:c.G110A:p.G37D;ENSG00000101773:ENST00000582354:exon5:c.G110A:p.G37D;ENSG00000101773:ENST00000399721:exon3:c.G110A:p.G37D;ENSG00000101773:ENST00000360790:exon3:c.G110A:p.G37D;	0.239837763718673	0.39
18	20526407	G	C	18	22946444	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon3:c.G110C:p.G37A;RBBP8:NM_203292:exon3:c.G110C:p.G37A;RBBP8:NM_203291:exon3:c.G110C:p.G37A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.G110C:p.G37A;ENSG00000101773:ENST00000327155:exon3:c.G110C:p.G37A;ENSG00000101773:ENST00000399725:exon3:c.G110C:p.G37A;ENSG00000101773:ENST00000399722:exon3:c.G110C:p.G37A;ENSG00000101773:ENST00000581819:exon4:c.G110C:p.G37A;ENSG00000101773:ENST00000582354:exon5:c.G110C:p.G37A;ENSG00000101773:ENST00000399721:exon3:c.G110C:p.G37A;ENSG00000101773:ENST00000360790:exon3:c.G110C:p.G37A;	0.175023553677258	0.496
18	20526407	G	T	18	22946444	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon3:c.G110T:p.G37V;RBBP8:NM_203292:exon3:c.G110T:p.G37V;RBBP8:NM_203291:exon3:c.G110T:p.G37V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.G110T:p.G37V;ENSG00000101773:ENST00000327155:exon3:c.G110T:p.G37V;ENSG00000101773:ENST00000399725:exon3:c.G110T:p.G37V;ENSG00000101773:ENST00000399722:exon3:c.G110T:p.G37V;ENSG00000101773:ENST00000581819:exon4:c.G110T:p.G37V;ENSG00000101773:ENST00000582354:exon5:c.G110T:p.G37V;ENSG00000101773:ENST00000399721:exon3:c.G110T:p.G37V;ENSG00000101773:ENST00000360790:exon3:c.G110T:p.G37V;	0.703306743193602	0.48
18	20526408	T	A	18	22946445	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon3:c.T111A:p.G37G;RBBP8:NM_203292:exon3:c.T111A:p.G37G;RBBP8:NM_203291:exon3:c.T111A:p.G37G;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.T111A:p.G37G;ENSG00000101773:ENST00000327155:exon3:c.T111A:p.G37G;ENSG00000101773:ENST00000399725:exon3:c.T111A:p.G37G;ENSG00000101773:ENST00000399722:exon3:c.T111A:p.G37G;ENSG00000101773:ENST00000581819:exon4:c.T111A:p.G37G;ENSG00000101773:ENST00000582354:exon5:c.T111A:p.G37G;ENSG00000101773:ENST00000399721:exon3:c.T111A:p.G37G;ENSG00000101773:ENST00000360790:exon3:c.T111A:p.G37G;	2.69381386629842E-4	0.028
18	20526408	T	C	18	22946445	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon3:c.T111C:p.G37G;RBBP8:NM_203292:exon3:c.T111C:p.G37G;RBBP8:NM_203291:exon3:c.T111C:p.G37G;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.T111C:p.G37G;ENSG00000101773:ENST00000327155:exon3:c.T111C:p.G37G;ENSG00000101773:ENST00000399725:exon3:c.T111C:p.G37G;ENSG00000101773:ENST00000399722:exon3:c.T111C:p.G37G;ENSG00000101773:ENST00000581819:exon4:c.T111C:p.G37G;ENSG00000101773:ENST00000582354:exon5:c.T111C:p.G37G;ENSG00000101773:ENST00000399721:exon3:c.T111C:p.G37G;ENSG00000101773:ENST00000360790:exon3:c.T111C:p.G37G;	3.38321894444572E-4	0.046
18	20526408	T	G	18	22946445	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon3:c.T111G:p.G37G;RBBP8:NM_203292:exon3:c.T111G:p.G37G;RBBP8:NM_203291:exon3:c.T111G:p.G37G;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.T111G:p.G37G;ENSG00000101773:ENST00000327155:exon3:c.T111G:p.G37G;ENSG00000101773:ENST00000399725:exon3:c.T111G:p.G37G;ENSG00000101773:ENST00000399722:exon3:c.T111G:p.G37G;ENSG00000101773:ENST00000581819:exon4:c.T111G:p.G37G;ENSG00000101773:ENST00000582354:exon5:c.T111G:p.G37G;ENSG00000101773:ENST00000399721:exon3:c.T111G:p.G37G;ENSG00000101773:ENST00000360790:exon3:c.T111G:p.G37G;	1.86382800394199E-4	0.026
18	20526447	C	A	18	22946484	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon3:c.C150A:p.I50I;RBBP8:NM_203292:exon3:c.C150A:p.I50I;RBBP8:NM_203291:exon3:c.C150A:p.I50I;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.C150A:p.I50I;ENSG00000101773:ENST00000327155:exon3:c.C150A:p.I50I;ENSG00000101773:ENST00000399725:exon3:c.C150A:p.I50I;ENSG00000101773:ENST00000399722:exon3:c.C150A:p.I50I;ENSG00000101773:ENST00000581819:exon4:c.C150A:p.I50I;ENSG00000101773:ENST00000582354:exon5:c.C150A:p.I50I;ENSG00000101773:ENST00000399721:exon3:c.C150A:p.I50I;ENSG00000101773:ENST00000360790:exon3:c.C150A:p.I50I;	9.83276674664254E-5	0.03
18	20526447	C	G	18	22946484	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon3:c.C150G:p.I50M;RBBP8:NM_203292:exon3:c.C150G:p.I50M;RBBP8:NM_203291:exon3:c.C150G:p.I50M;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.C150G:p.I50M;ENSG00000101773:ENST00000327155:exon3:c.C150G:p.I50M;ENSG00000101773:ENST00000399725:exon3:c.C150G:p.I50M;ENSG00000101773:ENST00000399722:exon3:c.C150G:p.I50M;ENSG00000101773:ENST00000581819:exon4:c.C150G:p.I50M;ENSG00000101773:ENST00000582354:exon5:c.C150G:p.I50M;ENSG00000101773:ENST00000399721:exon3:c.C150G:p.I50M;ENSG00000101773:ENST00000360790:exon3:c.C150G:p.I50M;	5.46909954454558E-4	0.032
18	20526447	C	T	18	22946484	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon3:c.C150T:p.I50I;RBBP8:NM_203292:exon3:c.C150T:p.I50I;RBBP8:NM_203291:exon3:c.C150T:p.I50I;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.C150T:p.I50I;ENSG00000101773:ENST00000327155:exon3:c.C150T:p.I50I;ENSG00000101773:ENST00000399725:exon3:c.C150T:p.I50I;ENSG00000101773:ENST00000399722:exon3:c.C150T:p.I50I;ENSG00000101773:ENST00000581819:exon4:c.C150T:p.I50I;ENSG00000101773:ENST00000582354:exon5:c.C150T:p.I50I;ENSG00000101773:ENST00000399721:exon3:c.C150T:p.I50I;ENSG00000101773:ENST00000360790:exon3:c.C150T:p.I50I;	0.02684328298723	0.33
18	20526448	T	A	18	22946485	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon3:c.T151A:p.L51I;RBBP8:NM_203292:exon3:c.T151A:p.L51I;RBBP8:NM_203291:exon3:c.T151A:p.L51I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.T151A:p.L51I;ENSG00000101773:ENST00000327155:exon3:c.T151A:p.L51I;ENSG00000101773:ENST00000399725:exon3:c.T151A:p.L51I;ENSG00000101773:ENST00000399722:exon3:c.T151A:p.L51I;ENSG00000101773:ENST00000581819:exon4:c.T151A:p.L51I;ENSG00000101773:ENST00000582354:exon5:c.T151A:p.L51I;ENSG00000101773:ENST00000399721:exon3:c.T151A:p.L51I;ENSG00000101773:ENST00000360790:exon3:c.T151A:p.L51I;	0.0278396426179843	0.32
18	20526448	T	C	18	22946485	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon3:c.T151C:p.L51L;RBBP8:NM_203292:exon3:c.T151C:p.L51L;RBBP8:NM_203291:exon3:c.T151C:p.L51L;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.T151C:p.L51L;ENSG00000101773:ENST00000327155:exon3:c.T151C:p.L51L;ENSG00000101773:ENST00000399725:exon3:c.T151C:p.L51L;ENSG00000101773:ENST00000399722:exon3:c.T151C:p.L51L;ENSG00000101773:ENST00000581819:exon4:c.T151C:p.L51L;ENSG00000101773:ENST00000582354:exon5:c.T151C:p.L51L;ENSG00000101773:ENST00000399721:exon3:c.T151C:p.L51L;ENSG00000101773:ENST00000360790:exon3:c.T151C:p.L51L;	7.60634798974643E-4	0.022
18	20526448	T	G	18	22946485	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon3:c.T151G:p.L51V;RBBP8:NM_203292:exon3:c.T151G:p.L51V;RBBP8:NM_203291:exon3:c.T151G:p.L51V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.T151G:p.L51V;ENSG00000101773:ENST00000327155:exon3:c.T151G:p.L51V;ENSG00000101773:ENST00000399725:exon3:c.T151G:p.L51V;ENSG00000101773:ENST00000399722:exon3:c.T151G:p.L51V;ENSG00000101773:ENST00000581819:exon4:c.T151G:p.L51V;ENSG00000101773:ENST00000582354:exon5:c.T151G:p.L51V;ENSG00000101773:ENST00000399721:exon3:c.T151G:p.L51V;ENSG00000101773:ENST00000360790:exon3:c.T151G:p.L51V;	0.212049045456695	0.21
18	20526449	T	A	18	22946486	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon3:c.T152A:p.L51X;RBBP8:NM_203292:exon3:c.T152A:p.L51X;RBBP8:NM_203291:exon3:c.T152A:p.L51X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000579124:exon4:c.T152A:p.L51X;ENSG00000101773:ENST00000327155:exon3:c.T152A:p.L51X;ENSG00000101773:ENST00000399725:exon3:c.T152A:p.L51X;ENSG00000101773:ENST00000399722:exon3:c.T152A:p.L51X;ENSG00000101773:ENST00000581819:exon4:c.T152A:p.L51X;ENSG00000101773:ENST00000582354:exon5:c.T152A:p.L51X;ENSG00000101773:ENST00000399721:exon3:c.T152A:p.L51X;ENSG00000101773:ENST00000360790:exon3:c.T152A:p.L51X;	0.835768258613152	0.82
18	20526449	T	C	18	22946486	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon3:c.T152C:p.L51S;RBBP8:NM_203292:exon3:c.T152C:p.L51S;RBBP8:NM_203291:exon3:c.T152C:p.L51S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon4:c.T152C:p.L51S;ENSG00000101773:ENST00000327155:exon3:c.T152C:p.L51S;ENSG00000101773:ENST00000399725:exon3:c.T152C:p.L51S;ENSG00000101773:ENST00000399722:exon3:c.T152C:p.L51S;ENSG00000101773:ENST00000581819:exon4:c.T152C:p.L51S;ENSG00000101773:ENST00000582354:exon5:c.T152C:p.L51S;ENSG00000101773:ENST00000399721:exon3:c.T152C:p.L51S;ENSG00000101773:ENST00000360790:exon3:c.T152C:p.L51S;	0.961108925043096	0.8
18	20526449	T	G	18	22946486	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon3:c.T152G:p.L51X;RBBP8:NM_203292:exon3:c.T152G:p.L51X;RBBP8:NM_203291:exon3:c.T152G:p.L51X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000579124:exon4:c.T152G:p.L51X;ENSG00000101773:ENST00000327155:exon3:c.T152G:p.L51X;ENSG00000101773:ENST00000399725:exon3:c.T152G:p.L51X;ENSG00000101773:ENST00000399722:exon3:c.T152G:p.L51X;ENSG00000101773:ENST00000581819:exon4:c.T152G:p.L51X;ENSG00000101773:ENST00000582354:exon5:c.T152G:p.L51X;ENSG00000101773:ENST00000399721:exon3:c.T152G:p.L51X;ENSG00000101773:ENST00000360790:exon3:c.T152G:p.L51X;	0.473734873237121	0.408
18	20526450	G	A	18	22946487	y	y	splicing	RBBP8(NM_002894:exon3:c.152+1G>A;NM_203292:exon3:c.152+1G>A;NM_203291:exon3:c.152+1G>A)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.152+1G>A;ENST00000582354:exon5:c.152+1G>A;ENST00000581819:exon4:c.152+1G>A;ENST00000327155:exon3:c.152+1G>A;ENST00000399722:exon3:c.152+1G>A;ENST00000399725:exon3:c.152+1G>A;ENST00000399721:exon3:c.152+1G>A;ENST00000360790:exon3:c.152+1G>A)	.	.	0.999986675681007	0.932
18	20526450	G	C	18	22946487	y	y	splicing	RBBP8(NM_002894:exon3:c.152+1G>C;NM_203292:exon3:c.152+1G>C;NM_203291:exon3:c.152+1G>C)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.152+1G>C;ENST00000582354:exon5:c.152+1G>C;ENST00000581819:exon4:c.152+1G>C;ENST00000327155:exon3:c.152+1G>C;ENST00000399722:exon3:c.152+1G>C;ENST00000399725:exon3:c.152+1G>C;ENST00000399721:exon3:c.152+1G>C;ENST00000360790:exon3:c.152+1G>C)	.	.	0.999986675681007	0.934
18	20526450	G	T	18	22946487	y	y	splicing	RBBP8(NM_002894:exon3:c.152+1G>T;NM_203292:exon3:c.152+1G>T;NM_203291:exon3:c.152+1G>T)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.152+1G>T;ENST00000582354:exon5:c.152+1G>T;ENST00000581819:exon4:c.152+1G>T;ENST00000327155:exon3:c.152+1G>T;ENST00000399722:exon3:c.152+1G>T;ENST00000399725:exon3:c.152+1G>T;ENST00000399721:exon3:c.152+1G>T;ENST00000360790:exon3:c.152+1G>T)	.	.	0.999986675681007	0.934
18	20526451	T	A	18	22946488	y	y	splicing	RBBP8(NM_002894:exon3:c.152+2T>A;NM_203292:exon3:c.152+2T>A;NM_203291:exon3:c.152+2T>A)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.152+2T>A;ENST00000582354:exon5:c.152+2T>A;ENST00000581819:exon4:c.152+2T>A;ENST00000327155:exon3:c.152+2T>A;ENST00000399722:exon3:c.152+2T>A;ENST00000399725:exon3:c.152+2T>A;ENST00000399721:exon3:c.152+2T>A;ENST00000360790:exon3:c.152+2T>A)	.	.	0.999988247793601	0.912
18	20526451	T	C	18	22946488	y	y	splicing	RBBP8(NM_002894:exon3:c.152+2T>C;NM_203292:exon3:c.152+2T>C;NM_203291:exon3:c.152+2T>C)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.152+2T>C;ENST00000582354:exon5:c.152+2T>C;ENST00000581819:exon4:c.152+2T>C;ENST00000327155:exon3:c.152+2T>C;ENST00000399722:exon3:c.152+2T>C;ENST00000399725:exon3:c.152+2T>C;ENST00000399721:exon3:c.152+2T>C;ENST00000360790:exon3:c.152+2T>C)	.	.	0.991245725732999	0.616
18	20526451	T	G	18	22946488	y	y	splicing	RBBP8(NM_002894:exon3:c.152+2T>G;NM_203292:exon3:c.152+2T>G;NM_203291:exon3:c.152+2T>G)	.	.	splicing	ENSG00000101773(ENST00000579124:exon4:c.152+2T>G;ENST00000582354:exon5:c.152+2T>G;ENST00000581819:exon4:c.152+2T>G;ENST00000327155:exon3:c.152+2T>G;ENST00000399722:exon3:c.152+2T>G;ENST00000399725:exon3:c.152+2T>G;ENST00000399721:exon3:c.152+2T>G;ENST00000360790:exon3:c.152+2T>G)	.	.	0.999988247793601	0.924
18	20526452	A	C	18	22946489	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999744845729858	0.944
18	20526452	A	G	18	22946489	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.788354414136184	0.386
18	20526452	A	T	18	22946489	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999809049325952	0.978
18	20526453	A	C	18	22946490	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996241595171573	0.89
18	20526453	A	G	18	22946490	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996434730544041	0.88
18	20526453	A	T	18	22946490	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996847698574353	0.94
18	20526454	G	A	18	22946491	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999967018685523	1.0
18	20526454	G	C	18	22946491	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999982925224015	0.972
18	20526454	G	T	18	22946491	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999968833967818	0.99
18	20526455	T	A	18	22946492	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.995799187884209	0.816
18	20526455	T	C	18	22946492	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.994860816841185	0.954
18	20526455	T	G	18	22946492	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.995321096330326	0.908
18	20526456	A	C	18	22946493	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0326653516479646	0.094
18	20526456	A	G	18	22946493	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0326653516479646	0.094
18	20526456	A	T	18	22946493	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0389808624102306	0.16
18	20526457	T	A	18	22946494	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.52200672714302E-4	0.0
18	20526457	T	C	18	22946494	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.9920955617261E-4	0.004
18	20526457	T	G	18	22946494	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.17230682961834E-4	0.0
18	20529569	T	A	18	22949606	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00244058653093514	0.142
18	20529569	T	C	18	22949606	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.30596376617626E-4	0.004
18	20529569	T	G	18	22949606	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00187296669231934	0.122
18	20529570	T	A	18	22949607	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.717299643976066	0.722
18	20529570	T	C	18	22949607	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.35287201881398E-4	0.14
18	20529570	T	G	18	22949607	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.324484637189384	0.582
18	20529571	T	A	18	22949608	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999971082113111	0.956
18	20529571	T	C	18	22949608	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.128264535500266	0.32
18	20529571	T	G	18	22949608	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.990207854473236	0.868
18	20529572	G	A	18	22949609	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.09103109986788E-4	0.002
18	20529572	G	C	18	22949609	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.53922721243634E-5	0.0
18	20529572	G	T	18	22949609	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.84441556795154E-5	0.004
18	20529573	A	C	18	22949610	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00241939799634016	0.014
18	20529573	A	G	18	22949610	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00403503642703897	0.014
18	20529573	A	T	18	22949610	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00128899784592871	0.036
18	20529574	C	A	18	22949611	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0265624385624735	0.204
18	20529574	C	G	18	22949611	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999953642691879	0.974
18	20529574	C	T	18	22949611	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.77624085034769E-4	0.11
18	20529575	C	A	18	22949612	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.009108680841808	0.248
18	20529575	C	G	18	22949612	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0338257514411181	0.286
18	20529575	C	T	18	22949612	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.22255897121405E-5	0.004
18	20529576	T	A	18	22949613	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.977750320038358	0.63
18	20529576	T	C	18	22949613	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.41396286547397E-4	0.014
18	20529576	T	G	18	22949613	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.976775362128981	0.608
18	20529577	T	A	18	22949614	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.57304570957006E-5	0.0
18	20529577	T	C	18	22949614	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.30522999414568E-5	0.002
18	20529577	T	G	18	22949614	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.82503155459462E-4	0.0
18	20529578	T	A	18	22949615	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00567858404362349	0.24
18	20529578	T	C	18	22949615	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.62901660765968E-5	0.006
18	20529578	T	G	18	22949615	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.936844366986947	0.666
18	20529579	A	C	18	22949616	y	y	splicing	RBBP8(NM_002894:exon4:c.153-2A>C;NM_203292:exon4:c.153-2A>C;NM_203291:exon4:c.153-2A>C)	.	.	splicing	ENSG00000101773(ENST00000579124:exon5:c.153-2A>C;ENST00000582354:exon6:c.153-2A>C;ENST00000581819:exon5:c.153-2A>C;ENST00000327155:exon4:c.153-2A>C;ENST00000399722:exon4:c.153-2A>C;ENST00000399725:exon4:c.153-2A>C;ENST00000399721:exon4:c.153-2A>C;ENST00000360790:exon4:c.153-2A>C)	.	.	0.999988247793601	0.926
18	20529579	A	G	18	22949616	y	y	splicing	RBBP8(NM_002894:exon4:c.153-2A>G;NM_203292:exon4:c.153-2A>G;NM_203291:exon4:c.153-2A>G)	.	.	splicing	ENSG00000101773(ENST00000579124:exon5:c.153-2A>G;ENST00000582354:exon6:c.153-2A>G;ENST00000581819:exon5:c.153-2A>G;ENST00000327155:exon4:c.153-2A>G;ENST00000399722:exon4:c.153-2A>G;ENST00000399725:exon4:c.153-2A>G;ENST00000399721:exon4:c.153-2A>G;ENST00000360790:exon4:c.153-2A>G)	.	.	0.999988247793601	0.926
18	20529579	A	T	18	22949616	y	y	splicing	RBBP8(NM_002894:exon4:c.153-2A>T;NM_203292:exon4:c.153-2A>T;NM_203291:exon4:c.153-2A>T)	.	.	splicing	ENSG00000101773(ENST00000579124:exon5:c.153-2A>T;ENST00000582354:exon6:c.153-2A>T;ENST00000581819:exon5:c.153-2A>T;ENST00000327155:exon4:c.153-2A>T;ENST00000399722:exon4:c.153-2A>T;ENST00000399725:exon4:c.153-2A>T;ENST00000399721:exon4:c.153-2A>T;ENST00000360790:exon4:c.153-2A>T)	.	.	0.999988247793601	0.926
18	20529580	G	A	18	22949617	y	y	splicing	RBBP8(NM_002894:exon4:c.153-1G>A;NM_203292:exon4:c.153-1G>A;NM_203291:exon4:c.153-1G>A)	.	.	splicing	ENSG00000101773(ENST00000579124:exon5:c.153-1G>A;ENST00000582354:exon6:c.153-1G>A;ENST00000581819:exon5:c.153-1G>A;ENST00000327155:exon4:c.153-1G>A;ENST00000399722:exon4:c.153-1G>A;ENST00000399725:exon4:c.153-1G>A;ENST00000399721:exon4:c.153-1G>A;ENST00000360790:exon4:c.153-1G>A)	.	.	0.999985532734767	0.936
18	20529580	G	C	18	22949617	y	y	splicing	RBBP8(NM_002894:exon4:c.153-1G>C;NM_203292:exon4:c.153-1G>C;NM_203291:exon4:c.153-1G>C)	.	.	splicing	ENSG00000101773(ENST00000579124:exon5:c.153-1G>C;ENST00000582354:exon6:c.153-1G>C;ENST00000581819:exon5:c.153-1G>C;ENST00000327155:exon4:c.153-1G>C;ENST00000399722:exon4:c.153-1G>C;ENST00000399725:exon4:c.153-1G>C;ENST00000399721:exon4:c.153-1G>C;ENST00000360790:exon4:c.153-1G>C)	.	.	0.999985532734767	0.934
18	20529580	G	T	18	22949617	y	y	splicing	RBBP8(NM_002894:exon4:c.153-1G>T;NM_203292:exon4:c.153-1G>T;NM_203291:exon4:c.153-1G>T)	.	.	splicing	ENSG00000101773(ENST00000579124:exon5:c.153-1G>T;ENST00000582354:exon6:c.153-1G>T;ENST00000581819:exon5:c.153-1G>T;ENST00000327155:exon4:c.153-1G>T;ENST00000399722:exon4:c.153-1G>T;ENST00000399725:exon4:c.153-1G>T;ENST00000399721:exon4:c.153-1G>T;ENST00000360790:exon4:c.153-1G>T)	.	.	0.999985532734767	0.936
18	20529581	A	C	18	22949618	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.A153C:p.L51F;RBBP8:NM_203292:exon4:c.A153C:p.L51F;RBBP8:NM_203291:exon4:c.A153C:p.L51F;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon5:c.A153C:p.L51F;ENSG00000101773:ENST00000327155:exon4:c.A153C:p.L51F;ENSG00000101773:ENST00000399725:exon4:c.A153C:p.L51F;ENSG00000101773:ENST00000399722:exon4:c.A153C:p.L51F;ENSG00000101773:ENST00000581819:exon5:c.A153C:p.L51F;ENSG00000101773:ENST00000582354:exon6:c.A153C:p.L51F;ENSG00000101773:ENST00000399721:exon4:c.A153C:p.L51F;ENSG00000101773:ENST00000360790:exon4:c.A153C:p.L51F;	0.553771535196584	0.586
18	20529581	A	G	18	22949618	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon4:c.A153G:p.L51L;RBBP8:NM_203292:exon4:c.A153G:p.L51L;RBBP8:NM_203291:exon4:c.A153G:p.L51L;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000579124:exon5:c.A153G:p.L51L;ENSG00000101773:ENST00000327155:exon4:c.A153G:p.L51L;ENSG00000101773:ENST00000399725:exon4:c.A153G:p.L51L;ENSG00000101773:ENST00000399722:exon4:c.A153G:p.L51L;ENSG00000101773:ENST00000581819:exon5:c.A153G:p.L51L;ENSG00000101773:ENST00000582354:exon6:c.A153G:p.L51L;ENSG00000101773:ENST00000399721:exon4:c.A153G:p.L51L;ENSG00000101773:ENST00000360790:exon4:c.A153G:p.L51L;	0.012096596854426	0.236
18	20529581	A	T	18	22949618	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.A153T:p.L51F;RBBP8:NM_203292:exon4:c.A153T:p.L51F;RBBP8:NM_203291:exon4:c.A153T:p.L51F;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon5:c.A153T:p.L51F;ENSG00000101773:ENST00000327155:exon4:c.A153T:p.L51F;ENSG00000101773:ENST00000399725:exon4:c.A153T:p.L51F;ENSG00000101773:ENST00000399722:exon4:c.A153T:p.L51F;ENSG00000101773:ENST00000581819:exon5:c.A153T:p.L51F;ENSG00000101773:ENST00000582354:exon6:c.A153T:p.L51F;ENSG00000101773:ENST00000399721:exon4:c.A153T:p.L51F;ENSG00000101773:ENST00000360790:exon4:c.A153T:p.L51F;	0.600026292746069	0.48
18	20529582	G	A	18	22949619	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.G154A:p.D52N;RBBP8:NM_203292:exon4:c.G154A:p.D52N;RBBP8:NM_203291:exon4:c.G154A:p.D52N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon5:c.G154A:p.D52N;ENSG00000101773:ENST00000327155:exon4:c.G154A:p.D52N;ENSG00000101773:ENST00000399725:exon4:c.G154A:p.D52N;ENSG00000101773:ENST00000399722:exon4:c.G154A:p.D52N;ENSG00000101773:ENST00000581819:exon5:c.G154A:p.D52N;ENSG00000101773:ENST00000582354:exon6:c.G154A:p.D52N;ENSG00000101773:ENST00000399721:exon4:c.G154A:p.D52N;ENSG00000101773:ENST00000360790:exon4:c.G154A:p.D52N;	0.984394225036823	0.932
18	20529582	G	C	18	22949619	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.G154C:p.D52H;RBBP8:NM_203292:exon4:c.G154C:p.D52H;RBBP8:NM_203291:exon4:c.G154C:p.D52H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon5:c.G154C:p.D52H;ENSG00000101773:ENST00000327155:exon4:c.G154C:p.D52H;ENSG00000101773:ENST00000399725:exon4:c.G154C:p.D52H;ENSG00000101773:ENST00000399722:exon4:c.G154C:p.D52H;ENSG00000101773:ENST00000581819:exon5:c.G154C:p.D52H;ENSG00000101773:ENST00000582354:exon6:c.G154C:p.D52H;ENSG00000101773:ENST00000399721:exon4:c.G154C:p.D52H;ENSG00000101773:ENST00000360790:exon4:c.G154C:p.D52H;	0.956575841496532	0.886
18	20529582	G	T	18	22949619	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.G154T:p.D52Y;RBBP8:NM_203292:exon4:c.G154T:p.D52Y;RBBP8:NM_203291:exon4:c.G154T:p.D52Y;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000579124:exon5:c.G154T:p.D52Y;ENSG00000101773:ENST00000327155:exon4:c.G154T:p.D52Y;ENSG00000101773:ENST00000399725:exon4:c.G154T:p.D52Y;ENSG00000101773:ENST00000399722:exon4:c.G154T:p.D52Y;ENSG00000101773:ENST00000581819:exon5:c.G154T:p.D52Y;ENSG00000101773:ENST00000582354:exon6:c.G154T:p.D52Y;ENSG00000101773:ENST00000399721:exon4:c.G154T:p.D52Y;ENSG00000101773:ENST00000360790:exon4:c.G154T:p.D52Y;	0.976769961432565	0.892
18	20529674	T	A	18	22949711	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.T246A:p.D82E;RBBP8:NM_203292:exon4:c.T246A:p.D82E;RBBP8:NM_203291:exon4:c.T246A:p.D82E;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.T246A:p.D82E;ENSG00000101773:ENST00000399725:exon4:c.T246A:p.D82E;ENSG00000101773:ENST00000399722:exon4:c.T246A:p.D82E;ENSG00000101773:ENST00000581819:exon5:c.T246A:p.D82E;ENSG00000101773:ENST00000582354:exon6:c.T246A:p.D82E;ENSG00000101773:ENST00000399721:exon4:c.T246A:p.D82E;ENSG00000101773:ENST00000360790:exon4:c.T246A:p.D82E;	0.609178629229558	0.718
18	20529674	T	C	18	22949711	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon4:c.T246C:p.D82D;RBBP8:NM_203292:exon4:c.T246C:p.D82D;RBBP8:NM_203291:exon4:c.T246C:p.D82D;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.T246C:p.D82D;ENSG00000101773:ENST00000399725:exon4:c.T246C:p.D82D;ENSG00000101773:ENST00000399722:exon4:c.T246C:p.D82D;ENSG00000101773:ENST00000581819:exon5:c.T246C:p.D82D;ENSG00000101773:ENST00000582354:exon6:c.T246C:p.D82D;ENSG00000101773:ENST00000399721:exon4:c.T246C:p.D82D;ENSG00000101773:ENST00000360790:exon4:c.T246C:p.D82D;	0.0464621696569269	0.354
18	20529674	T	G	18	22949711	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.T246G:p.D82E;RBBP8:NM_203292:exon4:c.T246G:p.D82E;RBBP8:NM_203291:exon4:c.T246G:p.D82E;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.T246G:p.D82E;ENSG00000101773:ENST00000399725:exon4:c.T246G:p.D82E;ENSG00000101773:ENST00000399722:exon4:c.T246G:p.D82E;ENSG00000101773:ENST00000581819:exon5:c.T246G:p.D82E;ENSG00000101773:ENST00000582354:exon6:c.T246G:p.D82E;ENSG00000101773:ENST00000399721:exon4:c.T246G:p.D82E;ENSG00000101773:ENST00000360790:exon4:c.T246G:p.D82E;	0.741346040243941	0.692
18	20529675	C	A	18	22949712	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon4:c.C247A:p.R83R;RBBP8:NM_203292:exon4:c.C247A:p.R83R;RBBP8:NM_203291:exon4:c.C247A:p.R83R;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.C247A:p.R83R;ENSG00000101773:ENST00000399725:exon4:c.C247A:p.R83R;ENSG00000101773:ENST00000399722:exon4:c.C247A:p.R83R;ENSG00000101773:ENST00000581819:exon5:c.C247A:p.R83R;ENSG00000101773:ENST00000582354:exon6:c.C247A:p.R83R;ENSG00000101773:ENST00000399721:exon4:c.C247A:p.R83R;ENSG00000101773:ENST00000360790:exon4:c.C247A:p.R83R;	0.00992447672913921	0.21
18	20529675	C	G	18	22949712	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.C247G:p.R83G;RBBP8:NM_203292:exon4:c.C247G:p.R83G;RBBP8:NM_203291:exon4:c.C247G:p.R83G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.C247G:p.R83G;ENSG00000101773:ENST00000399725:exon4:c.C247G:p.R83G;ENSG00000101773:ENST00000399722:exon4:c.C247G:p.R83G;ENSG00000101773:ENST00000581819:exon5:c.C247G:p.R83G;ENSG00000101773:ENST00000582354:exon6:c.C247G:p.R83G;ENSG00000101773:ENST00000399721:exon4:c.C247G:p.R83G;ENSG00000101773:ENST00000360790:exon4:c.C247G:p.R83G;	0.195647073838403	0.296
18	20529675	C	T	18	22949712	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.C247T:p.R83W;RBBP8:NM_203292:exon4:c.C247T:p.R83W;RBBP8:NM_203291:exon4:c.C247T:p.R83W;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.C247T:p.R83W;ENSG00000101773:ENST00000399725:exon4:c.C247T:p.R83W;ENSG00000101773:ENST00000399722:exon4:c.C247T:p.R83W;ENSG00000101773:ENST00000581819:exon5:c.C247T:p.R83W;ENSG00000101773:ENST00000582354:exon6:c.C247T:p.R83W;ENSG00000101773:ENST00000399721:exon4:c.C247T:p.R83W;ENSG00000101773:ENST00000360790:exon4:c.C247T:p.R83W;	0.0678314724039472	0.278
18	20529676	G	A	18	22949713	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.G248A:p.R83Q;RBBP8:NM_203292:exon4:c.G248A:p.R83Q;RBBP8:NM_203291:exon4:c.G248A:p.R83Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.G248A:p.R83Q;ENSG00000101773:ENST00000399725:exon4:c.G248A:p.R83Q;ENSG00000101773:ENST00000399722:exon4:c.G248A:p.R83Q;ENSG00000101773:ENST00000581819:exon5:c.G248A:p.R83Q;ENSG00000101773:ENST00000582354:exon6:c.G248A:p.R83Q;ENSG00000101773:ENST00000399721:exon4:c.G248A:p.R83Q;ENSG00000101773:ENST00000360790:exon4:c.G248A:p.R83Q;	0.999883458544782	0.978
18	20529676	G	C	18	22949713	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.G248C:p.R83P;RBBP8:NM_203292:exon4:c.G248C:p.R83P;RBBP8:NM_203291:exon4:c.G248C:p.R83P;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.G248C:p.R83P;ENSG00000101773:ENST00000399725:exon4:c.G248C:p.R83P;ENSG00000101773:ENST00000399722:exon4:c.G248C:p.R83P;ENSG00000101773:ENST00000581819:exon5:c.G248C:p.R83P;ENSG00000101773:ENST00000582354:exon6:c.G248C:p.R83P;ENSG00000101773:ENST00000399721:exon4:c.G248C:p.R83P;ENSG00000101773:ENST00000360790:exon4:c.G248C:p.R83P;	0.999589555975391	0.948
18	20529676	G	T	18	22949713	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon4:c.G248T:p.R83L;RBBP8:NM_203292:exon4:c.G248T:p.R83L;RBBP8:NM_203291:exon4:c.G248T:p.R83L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon4:c.G248T:p.R83L;ENSG00000101773:ENST00000399725:exon4:c.G248T:p.R83L;ENSG00000101773:ENST00000399722:exon4:c.G248T:p.R83L;ENSG00000101773:ENST00000581819:exon5:c.G248T:p.R83L;ENSG00000101773:ENST00000582354:exon6:c.G248T:p.R83L;ENSG00000101773:ENST00000399721:exon4:c.G248T:p.R83L;ENSG00000101773:ENST00000360790:exon4:c.G248T:p.R83L;	0.999994324460583	0.986
18	20529677	G	A	18	22949714	y	y	splicing	RBBP8(NM_002894:exon4:c.248+1G>A;NM_203292:exon4:c.248+1G>A;NM_203291:exon4:c.248+1G>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon6:c.248+1G>A;ENST00000581819:exon5:c.248+1G>A;ENST00000327155:exon4:c.248+1G>A;ENST00000399722:exon4:c.248+1G>A;ENST00000399725:exon4:c.248+1G>A;ENST00000399721:exon4:c.248+1G>A;ENST00000360790:exon4:c.248+1G>A)	.	.	0.999990361384395	0.938
18	20529677	G	C	18	22949714	y	y	splicing	RBBP8(NM_002894:exon4:c.248+1G>C;NM_203292:exon4:c.248+1G>C;NM_203291:exon4:c.248+1G>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon6:c.248+1G>C;ENST00000581819:exon5:c.248+1G>C;ENST00000327155:exon4:c.248+1G>C;ENST00000399722:exon4:c.248+1G>C;ENST00000399725:exon4:c.248+1G>C;ENST00000399721:exon4:c.248+1G>C;ENST00000360790:exon4:c.248+1G>C)	.	.	0.999990361384395	0.938
18	20529677	G	T	18	22949714	y	y	splicing	RBBP8(NM_002894:exon4:c.248+1G>T;NM_203292:exon4:c.248+1G>T;NM_203291:exon4:c.248+1G>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon6:c.248+1G>T;ENST00000581819:exon5:c.248+1G>T;ENST00000327155:exon4:c.248+1G>T;ENST00000399722:exon4:c.248+1G>T;ENST00000399725:exon4:c.248+1G>T;ENST00000399721:exon4:c.248+1G>T;ENST00000360790:exon4:c.248+1G>T)	.	.	0.999990361384395	0.938
18	20529678	T	A	18	22949715	y	y	splicing	RBBP8(NM_002894:exon4:c.248+2T>A;NM_203292:exon4:c.248+2T>A;NM_203291:exon4:c.248+2T>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon6:c.248+2T>A;ENST00000581819:exon5:c.248+2T>A;ENST00000327155:exon4:c.248+2T>A;ENST00000399722:exon4:c.248+2T>A;ENST00000399725:exon4:c.248+2T>A;ENST00000399721:exon4:c.248+2T>A;ENST00000360790:exon4:c.248+2T>A)	.	.	0.999988247793601	0.93
18	20529678	T	C	18	22949715	y	y	splicing	RBBP8(NM_002894:exon4:c.248+2T>C;NM_203292:exon4:c.248+2T>C;NM_203291:exon4:c.248+2T>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon6:c.248+2T>C;ENST00000581819:exon5:c.248+2T>C;ENST00000327155:exon4:c.248+2T>C;ENST00000399722:exon4:c.248+2T>C;ENST00000399725:exon4:c.248+2T>C;ENST00000399721:exon4:c.248+2T>C;ENST00000360790:exon4:c.248+2T>C)	.	.	0.999943260809542	0.86
18	20529678	T	G	18	22949715	y	y	splicing	RBBP8(NM_002894:exon4:c.248+2T>G;NM_203292:exon4:c.248+2T>G;NM_203291:exon4:c.248+2T>G)	.	.	splicing	ENSG00000101773(ENST00000582354:exon6:c.248+2T>G;ENST00000581819:exon5:c.248+2T>G;ENST00000327155:exon4:c.248+2T>G;ENST00000399722:exon4:c.248+2T>G;ENST00000399725:exon4:c.248+2T>G;ENST00000399721:exon4:c.248+2T>G;ENST00000360790:exon4:c.248+2T>G)	.	.	0.999988247793601	0.93
18	20529679	G	A	18	22949716	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.88086658144451E-5	0.002
18	20529679	G	C	18	22949716	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.470969889002253	0.468
18	20529679	G	T	18	22949716	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.189286901735854	0.444
18	20529680	A	C	18	22949717	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.89079841551287	0.526
18	20529680	A	G	18	22949717	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.991237882049918	0.82
18	20529680	A	T	18	22949717	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.985185779420344	0.75
18	20529681	G	A	18	22949718	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999903047851116	0.952
18	20529681	G	C	18	22949718	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999941975461351	0.988
18	20529681	G	T	18	22949718	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999937551019302	0.868
18	20529682	T	A	18	22949719	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997849828750004	0.786
18	20529682	T	C	18	22949719	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.98169842388286	0.718
18	20529682	T	G	18	22949719	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.99572561956347	0.718
18	20529683	C	A	18	22949720	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.03447871252391E-4	0.03
18	20529683	C	G	18	22949720	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.36455992193781E-4	0.072
18	20529683	C	T	18	22949720	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.73343307131943E-5	0.022
18	20529684	T	A	18	22949721	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0457991203583889	0.2
18	20529684	T	C	18	22949721	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0457991203583889	0.198
18	20529684	T	G	18	22949721	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0457991203583889	0.15
18	20548757	T	A	18	22968794	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.631841764260547	0.518
18	20548757	T	C	18	22968794	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00950159440227076	0.096
18	20548757	T	G	18	22968794	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.589400023864697	0.466
18	20548758	T	A	18	22968795	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0464117585072882	0.304
18	20548758	T	C	18	22968795	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00864058645568163	0.084
18	20548758	T	G	18	22968795	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0244628342508749	0.214
18	20548759	T	A	18	22968796	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998925870680696	0.916
18	20548759	T	C	18	22968796	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.54858208903187E-4	0.006
18	20548759	T	G	18	22968796	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00457764008651238	0.354
18	20548760	G	A	18	22968797	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.13327783767755E-4	0.076
18	20548760	G	C	18	22968797	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.72872115785354E-5	0.028
18	20548760	G	T	18	22968797	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.63887015573333E-5	0.048
18	20548761	T	A	18	22968798	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.352015515146234	0.378
18	20548761	T	C	18	22968798	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.68269315876856E-4	0.008
18	20548761	T	G	18	22968798	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.015350684855888	0.27
18	20548762	T	A	18	22968799	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00869812352404319	0.132
18	20548762	T	C	18	22968799	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.08636524897274E-4	0.002
18	20548762	T	G	18	22968799	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00278854098988072	0.128
18	20548763	T	A	18	22968800	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0184447269803792	0.094
18	20548763	T	C	18	22968800	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.91612989422548E-5	0.002
18	20548763	T	G	18	22968800	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0222981754090833	0.136
18	20548764	C	A	18	22968801	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.58598210701605E-5	0.008
18	20548764	C	G	18	22968801	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.58598210701605E-5	0.012
18	20548764	C	T	18	22968801	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.97018975761258E-5	0.0
18	20548765	A	C	18	22968802	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.72844251620308E-5	0.002
18	20548765	A	G	18	22968802	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.03274636864819E-4	0.008
18	20548765	A	T	18	22968802	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.60911416664914E-4	0.008
18	20548766	T	A	18	22968803	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.34900450640774E-4	0.064
18	20548766	T	C	18	22968803	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.77106923456316E-5	0.016
18	20548766	T	G	18	22968803	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.974014385502241	0.656
18	20548767	A	C	18	22968804	y	y	splicing	RBBP8(NM_002894:exon5:c.249-2A>C;NM_203292:exon5:c.249-2A>C;NM_203291:exon5:c.249-2A>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.249-2A>C;ENST00000581819:exon6:c.249-2A>C;ENST00000327155:exon5:c.249-2A>C;ENST00000399722:exon5:c.249-2A>C;ENST00000399725:exon5:c.249-2A>C;ENST00000399721:exon5:c.249-2A>C;ENST00000360790:exon5:c.249-2A>C)	.	.	0.99994568797423	0.936
18	20548767	A	G	18	22968804	y	y	splicing	RBBP8(NM_002894:exon5:c.249-2A>G;NM_203292:exon5:c.249-2A>G;NM_203291:exon5:c.249-2A>G)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.249-2A>G;ENST00000581819:exon6:c.249-2A>G;ENST00000327155:exon5:c.249-2A>G;ENST00000399722:exon5:c.249-2A>G;ENST00000399725:exon5:c.249-2A>G;ENST00000399721:exon5:c.249-2A>G;ENST00000360790:exon5:c.249-2A>G)	.	.	0.99994568797423	0.936
18	20548767	A	T	18	22968804	y	y	splicing	RBBP8(NM_002894:exon5:c.249-2A>T;NM_203292:exon5:c.249-2A>T;NM_203291:exon5:c.249-2A>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.249-2A>T;ENST00000581819:exon6:c.249-2A>T;ENST00000327155:exon5:c.249-2A>T;ENST00000399722:exon5:c.249-2A>T;ENST00000399725:exon5:c.249-2A>T;ENST00000399721:exon5:c.249-2A>T;ENST00000360790:exon5:c.249-2A>T)	.	.	0.99994568797423	0.928
18	20548768	G	A	18	22968805	y	y	splicing	RBBP8(NM_002894:exon5:c.249-1G>A;NM_203292:exon5:c.249-1G>A;NM_203291:exon5:c.249-1G>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.249-1G>A;ENST00000581819:exon6:c.249-1G>A;ENST00000327155:exon5:c.249-1G>A;ENST00000399722:exon5:c.249-1G>A;ENST00000399725:exon5:c.249-1G>A;ENST00000399721:exon5:c.249-1G>A;ENST00000360790:exon5:c.249-1G>A)	.	.	0.999986675681007	0.934
18	20548768	G	C	18	22968805	y	y	splicing	RBBP8(NM_002894:exon5:c.249-1G>C;NM_203292:exon5:c.249-1G>C;NM_203291:exon5:c.249-1G>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.249-1G>C;ENST00000581819:exon6:c.249-1G>C;ENST00000327155:exon5:c.249-1G>C;ENST00000399722:exon5:c.249-1G>C;ENST00000399725:exon5:c.249-1G>C;ENST00000399721:exon5:c.249-1G>C;ENST00000360790:exon5:c.249-1G>C)	.	.	0.999976137096505	0.936
18	20548768	G	T	18	22968805	y	y	splicing	RBBP8(NM_002894:exon5:c.249-1G>T;NM_203292:exon5:c.249-1G>T;NM_203291:exon5:c.249-1G>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.249-1G>T;ENST00000581819:exon6:c.249-1G>T;ENST00000327155:exon5:c.249-1G>T;ENST00000399722:exon5:c.249-1G>T;ENST00000399725:exon5:c.249-1G>T;ENST00000399721:exon5:c.249-1G>T;ENST00000360790:exon5:c.249-1G>T)	.	.	0.999986675681007	0.936
18	20548769	G	A	18	22968806	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon5:c.G249A:p.R83R;RBBP8:NM_203292:exon5:c.G249A:p.R83R;RBBP8:NM_203291:exon5:c.G249A:p.R83R;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.G249A:p.R83R;ENSG00000101773:ENST00000399725:exon5:c.G249A:p.R83R;ENSG00000101773:ENST00000399722:exon5:c.G249A:p.R83R;ENSG00000101773:ENST00000581819:exon6:c.G249A:p.R83R;ENSG00000101773:ENST00000582354:exon7:c.G249A:p.R83R;ENSG00000101773:ENST00000399721:exon5:c.G249A:p.R83R;ENSG00000101773:ENST00000360790:exon5:c.G249A:p.R83R;	0.00110392288414095	0.144
18	20548769	G	C	18	22968806	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon5:c.G249C:p.R83R;RBBP8:NM_203292:exon5:c.G249C:p.R83R;RBBP8:NM_203291:exon5:c.G249C:p.R83R;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.G249C:p.R83R;ENSG00000101773:ENST00000399725:exon5:c.G249C:p.R83R;ENSG00000101773:ENST00000399722:exon5:c.G249C:p.R83R;ENSG00000101773:ENST00000581819:exon6:c.G249C:p.R83R;ENSG00000101773:ENST00000582354:exon7:c.G249C:p.R83R;ENSG00000101773:ENST00000399721:exon5:c.G249C:p.R83R;ENSG00000101773:ENST00000360790:exon5:c.G249C:p.R83R;	0.00443466166681867	0.348
18	20548769	G	T	18	22968806	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon5:c.G249T:p.R83R;RBBP8:NM_203292:exon5:c.G249T:p.R83R;RBBP8:NM_203291:exon5:c.G249T:p.R83R;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.G249T:p.R83R;ENSG00000101773:ENST00000399725:exon5:c.G249T:p.R83R;ENSG00000101773:ENST00000399722:exon5:c.G249T:p.R83R;ENSG00000101773:ENST00000581819:exon6:c.G249T:p.R83R;ENSG00000101773:ENST00000582354:exon7:c.G249T:p.R83R;ENSG00000101773:ENST00000399721:exon5:c.G249T:p.R83R;ENSG00000101773:ENST00000360790:exon5:c.G249T:p.R83R;	0.149156285799587	0.516
18	20548770	T	A	18	22968807	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon5:c.T250A:p.L84I;RBBP8:NM_203292:exon5:c.T250A:p.L84I;RBBP8:NM_203291:exon5:c.T250A:p.L84I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T250A:p.L84I;ENSG00000101773:ENST00000399725:exon5:c.T250A:p.L84I;ENSG00000101773:ENST00000399722:exon5:c.T250A:p.L84I;ENSG00000101773:ENST00000581819:exon6:c.T250A:p.L84I;ENSG00000101773:ENST00000582354:exon7:c.T250A:p.L84I;ENSG00000101773:ENST00000399721:exon5:c.T250A:p.L84I;ENSG00000101773:ENST00000360790:exon5:c.T250A:p.L84I;	6.05156384080522E-5	0.088
18	20548770	T	C	18	22968807	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon5:c.T250C:p.L84L;RBBP8:NM_203292:exon5:c.T250C:p.L84L;RBBP8:NM_203291:exon5:c.T250C:p.L84L;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T250C:p.L84L;ENSG00000101773:ENST00000399725:exon5:c.T250C:p.L84L;ENSG00000101773:ENST00000399722:exon5:c.T250C:p.L84L;ENSG00000101773:ENST00000581819:exon6:c.T250C:p.L84L;ENSG00000101773:ENST00000582354:exon7:c.T250C:p.L84L;ENSG00000101773:ENST00000399721:exon5:c.T250C:p.L84L;ENSG00000101773:ENST00000360790:exon5:c.T250C:p.L84L;	3.82100778349459E-4	0.026
18	20548770	T	G	18	22968807	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon5:c.T250G:p.L84V;RBBP8:NM_203292:exon5:c.T250G:p.L84V;RBBP8:NM_203291:exon5:c.T250G:p.L84V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T250G:p.L84V;ENSG00000101773:ENST00000399725:exon5:c.T250G:p.L84V;ENSG00000101773:ENST00000399722:exon5:c.T250G:p.L84V;ENSG00000101773:ENST00000581819:exon6:c.T250G:p.L84V;ENSG00000101773:ENST00000582354:exon7:c.T250G:p.L84V;ENSG00000101773:ENST00000399721:exon5:c.T250G:p.L84V;ENSG00000101773:ENST00000360790:exon5:c.T250G:p.L84V;	3.41142627498095E-5	0.058
18	20548879	T	A	18	22968916	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon5:c.T359A:p.L120H;RBBP8:NM_203292:exon5:c.T359A:p.L120H;RBBP8:NM_203291:exon5:c.T359A:p.L120H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T359A:p.L120H;ENSG00000101773:ENST00000399725:exon5:c.T359A:p.L120H;ENSG00000101773:ENST00000399722:exon5:c.T359A:p.L120H;ENSG00000101773:ENST00000582354:exon7:c.T359A:p.L120H;ENSG00000101773:ENST00000399721:exon5:c.T359A:p.L120H;ENSG00000101773:ENST00000360790:exon5:c.T359A:p.L120H;	0.720529420118802	0.678
18	20548879	T	C	18	22968916	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon5:c.T359C:p.L120P;RBBP8:NM_203292:exon5:c.T359C:p.L120P;RBBP8:NM_203291:exon5:c.T359C:p.L120P;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T359C:p.L120P;ENSG00000101773:ENST00000399725:exon5:c.T359C:p.L120P;ENSG00000101773:ENST00000399722:exon5:c.T359C:p.L120P;ENSG00000101773:ENST00000582354:exon7:c.T359C:p.L120P;ENSG00000101773:ENST00000399721:exon5:c.T359C:p.L120P;ENSG00000101773:ENST00000360790:exon5:c.T359C:p.L120P;	0.743079865496101	0.636
18	20548879	T	G	18	22968916	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon5:c.T359G:p.L120R;RBBP8:NM_203292:exon5:c.T359G:p.L120R;RBBP8:NM_203291:exon5:c.T359G:p.L120R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T359G:p.L120R;ENSG00000101773:ENST00000399725:exon5:c.T359G:p.L120R;ENSG00000101773:ENST00000399722:exon5:c.T359G:p.L120R;ENSG00000101773:ENST00000582354:exon7:c.T359G:p.L120R;ENSG00000101773:ENST00000399721:exon5:c.T359G:p.L120R;ENSG00000101773:ENST00000360790:exon5:c.T359G:p.L120R;	0.82341727483022	0.744
18	20548880	T	A	18	22968917	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon5:c.T360A:p.L120L;RBBP8:NM_203292:exon5:c.T360A:p.L120L;RBBP8:NM_203291:exon5:c.T360A:p.L120L;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T360A:p.L120L;ENSG00000101773:ENST00000399725:exon5:c.T360A:p.L120L;ENSG00000101773:ENST00000399722:exon5:c.T360A:p.L120L;ENSG00000101773:ENST00000582354:exon7:c.T360A:p.L120L;ENSG00000101773:ENST00000399721:exon5:c.T360A:p.L120L;ENSG00000101773:ENST00000360790:exon5:c.T360A:p.L120L;	1.10991204924734E-4	0.194
18	20548880	T	C	18	22968917	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon5:c.T360C:p.L120L;RBBP8:NM_203292:exon5:c.T360C:p.L120L;RBBP8:NM_203291:exon5:c.T360C:p.L120L;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T360C:p.L120L;ENSG00000101773:ENST00000399725:exon5:c.T360C:p.L120L;ENSG00000101773:ENST00000399722:exon5:c.T360C:p.L120L;ENSG00000101773:ENST00000582354:exon7:c.T360C:p.L120L;ENSG00000101773:ENST00000399721:exon5:c.T360C:p.L120L;ENSG00000101773:ENST00000360790:exon5:c.T360C:p.L120L;	0.00141644665876813	0.074
18	20548880	T	G	18	22968917	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon5:c.T360G:p.L120L;RBBP8:NM_203292:exon5:c.T360G:p.L120L;RBBP8:NM_203291:exon5:c.T360G:p.L120L;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.T360G:p.L120L;ENSG00000101773:ENST00000399725:exon5:c.T360G:p.L120L;ENSG00000101773:ENST00000399722:exon5:c.T360G:p.L120L;ENSG00000101773:ENST00000582354:exon7:c.T360G:p.L120L;ENSG00000101773:ENST00000399721:exon5:c.T360G:p.L120L;ENSG00000101773:ENST00000360790:exon5:c.T360G:p.L120L;	1.28436085414307E-4	0.068
18	20548881	A	C	18	22968918	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon5:c.A361C:p.M121L;RBBP8:NM_203292:exon5:c.A361C:p.M121L;RBBP8:NM_203291:exon5:c.A361C:p.M121L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.A361C:p.M121L;ENSG00000101773:ENST00000399725:exon5:c.A361C:p.M121L;ENSG00000101773:ENST00000399722:exon5:c.A361C:p.M121L;ENSG00000101773:ENST00000582354:exon7:c.A361C:p.M121L;ENSG00000101773:ENST00000399721:exon5:c.A361C:p.M121L;ENSG00000101773:ENST00000360790:exon5:c.A361C:p.M121L;	0.666457959759049	0.792
18	20548881	A	G	18	22968918	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon5:c.A361G:p.M121V;RBBP8:NM_203292:exon5:c.A361G:p.M121V;RBBP8:NM_203291:exon5:c.A361G:p.M121V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.A361G:p.M121V;ENSG00000101773:ENST00000399725:exon5:c.A361G:p.M121V;ENSG00000101773:ENST00000399722:exon5:c.A361G:p.M121V;ENSG00000101773:ENST00000582354:exon7:c.A361G:p.M121V;ENSG00000101773:ENST00000399721:exon5:c.A361G:p.M121V;ENSG00000101773:ENST00000360790:exon5:c.A361G:p.M121V;	0.377623389059373	0.318
18	20548881	A	T	18	22968918	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon5:c.A361T:p.M121L;RBBP8:NM_203292:exon5:c.A361T:p.M121L;RBBP8:NM_203291:exon5:c.A361T:p.M121L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon5:c.A361T:p.M121L;ENSG00000101773:ENST00000399725:exon5:c.A361T:p.M121L;ENSG00000101773:ENST00000399722:exon5:c.A361T:p.M121L;ENSG00000101773:ENST00000582354:exon7:c.A361T:p.M121L;ENSG00000101773:ENST00000399721:exon5:c.A361T:p.M121L;ENSG00000101773:ENST00000360790:exon5:c.A361T:p.M121L;	0.890442348015797	0.608
18	20548882	G	A	18	22968919	y	y	splicing	RBBP8(NM_002894:exon5:c.361+1G>A;NM_203292:exon5:c.361+1G>A;NM_203291:exon5:c.361+1G>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.361+1G>A;ENST00000327155:exon5:c.361+1G>A;ENST00000399722:exon5:c.361+1G>A;ENST00000399725:exon5:c.361+1G>A;ENST00000399721:exon5:c.361+1G>A;ENST00000360790:exon5:c.361+1G>A;ENST00000577445:exon1:c.77+1G>A)	.	.	0.999992425382947	0.94
18	20548882	G	C	18	22968919	y	y	splicing	RBBP8(NM_002894:exon5:c.361+1G>C;NM_203292:exon5:c.361+1G>C;NM_203291:exon5:c.361+1G>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.361+1G>C;ENST00000327155:exon5:c.361+1G>C;ENST00000399722:exon5:c.361+1G>C;ENST00000399725:exon5:c.361+1G>C;ENST00000399721:exon5:c.361+1G>C;ENST00000360790:exon5:c.361+1G>C;ENST00000577445:exon1:c.77+1G>C)	.	.	0.999992425382947	0.94
18	20548882	G	T	18	22968919	y	y	splicing	RBBP8(NM_002894:exon5:c.361+1G>T;NM_203292:exon5:c.361+1G>T;NM_203291:exon5:c.361+1G>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.361+1G>T;ENST00000327155:exon5:c.361+1G>T;ENST00000399722:exon5:c.361+1G>T;ENST00000399725:exon5:c.361+1G>T;ENST00000399721:exon5:c.361+1G>T;ENST00000360790:exon5:c.361+1G>T;ENST00000577445:exon1:c.77+1G>T)	.	.	0.999992425382947	0.94
18	20548883	T	A	18	22968920	y	y	splicing	RBBP8(NM_002894:exon5:c.361+2T>A;NM_203292:exon5:c.361+2T>A;NM_203291:exon5:c.361+2T>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.361+2T>A;ENST00000327155:exon5:c.361+2T>A;ENST00000399722:exon5:c.361+2T>A;ENST00000399725:exon5:c.361+2T>A;ENST00000399721:exon5:c.361+2T>A;ENST00000360790:exon5:c.361+2T>A;ENST00000577445:exon1:c.77+2T>A)	.	.	0.999990764389106	0.942
18	20548883	T	C	18	22968920	y	y	splicing	RBBP8(NM_002894:exon5:c.361+2T>C;NM_203292:exon5:c.361+2T>C;NM_203291:exon5:c.361+2T>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.361+2T>C;ENST00000327155:exon5:c.361+2T>C;ENST00000399722:exon5:c.361+2T>C;ENST00000399725:exon5:c.361+2T>C;ENST00000399721:exon5:c.361+2T>C;ENST00000360790:exon5:c.361+2T>C;ENST00000577445:exon1:c.77+2T>C)	.	.	0.999987057265159	0.954
18	20548883	T	G	18	22968920	y	y	splicing	RBBP8(NM_002894:exon5:c.361+2T>G;NM_203292:exon5:c.361+2T>G;NM_203291:exon5:c.361+2T>G)	.	.	splicing	ENSG00000101773(ENST00000582354:exon7:c.361+2T>G;ENST00000327155:exon5:c.361+2T>G;ENST00000399722:exon5:c.361+2T>G;ENST00000399725:exon5:c.361+2T>G;ENST00000399721:exon5:c.361+2T>G;ENST00000360790:exon5:c.361+2T>G;ENST00000577445:exon1:c.77+2T>G)	.	.	0.999990764389106	0.942
18	20548884	G	A	18	22968921	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.3039389076366E-4	0.012
18	20548884	G	C	18	22968921	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999032570583377	0.85
18	20548884	G	T	18	22968921	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998750933073959	0.836
18	20548885	A	C	18	22968922	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999950773653572	0.96
18	20548885	A	G	18	22968922	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999879121647405	0.97
18	20548885	A	T	18	22968922	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999879121647405	0.94
18	20548886	G	A	18	22968923	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999932373498605	1.0
18	20548886	G	C	18	22968923	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999951483627764	0.97
18	20548886	G	T	18	22968923	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999932373498605	0.964
18	20548887	T	A	18	22968924	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999468434420843	0.832
18	20548887	T	C	18	22968924	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999105142666269	0.976
18	20548887	T	G	18	22968924	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999378382384147	0.934
18	20548888	T	A	18	22968925	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.108226624117803	0.384
18	20548888	T	C	18	22968925	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.108226624117803	0.404
18	20548888	T	G	18	22968925	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.108226624117803	0.412
18	20548889	T	A	18	22968926	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.00370076075926E-4	0.006
18	20548889	T	C	18	22968926	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.8659085364017E-4	0.016
18	20548889	T	G	18	22968926	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.09612734091152E-4	0.008
18	20555104	A	C	18	22975141	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.43637917480172E-5	0.002
18	20555104	A	G	18	22975141	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.08583209281042E-5	0.026
18	20555104	A	T	18	22975141	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.16039272509871E-5	0.0
18	20555105	T	A	18	22975142	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.661379975159895	0.666
18	20555105	T	C	18	22975142	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0153231723043232	0.316
18	20555105	T	G	18	22975142	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999861137694153	0.97
18	20555106	T	A	18	22975143	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999861137694153	0.972
18	20555106	T	C	18	22975143	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.05124067620897E-4	0.074
18	20555106	T	G	18	22975143	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0749715766774082	0.532
18	20555107	G	A	18	22975144	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.57552411113652E-5	0.042
18	20555107	G	C	18	22975144	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.51333873349873E-5	0.0
18	20555107	G	T	18	22975144	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.42954537825878E-5	0.022
18	20555108	T	A	18	22975145	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00687889888607949	0.136
18	20555108	T	C	18	22975145	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.05400685862033E-5	0.0
18	20555108	T	G	18	22975145	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00193774484390824	0.116
18	20555109	T	A	18	22975146	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.026213085286539	0.158
18	20555109	T	C	18	22975146	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.01953206943098E-5	0.022
18	20555109	T	G	18	22975146	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0150461529568449	0.198
18	20555110	T	A	18	22975147	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.695400660166232	0.682
18	20555110	T	C	18	22975147	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.78710786832109E-4	0.03
18	20555110	T	G	18	22975147	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.590216292058549	0.682
18	20555111	T	A	18	22975148	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.91070239359399	0.644
18	20555111	T	C	18	22975148	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0355331752662408	0.22
18	20555111	T	G	18	22975148	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.949591434122333	0.664
18	20555112	T	A	18	22975149	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.8884218609641E-5	0.008
18	20555112	T	C	18	22975149	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.65465069194005E-5	0.006
18	20555112	T	G	18	22975149	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.04869740445547E-4	0.03
18	20555113	A	C	18	22975150	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.69918508263491E-5	0.044
18	20555113	A	G	18	22975150	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0339328581605044	0.236
18	20555113	A	T	18	22975150	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.00323729278109E-6	0.018
18	20555114	A	C	18	22975151	y	y	splicing	RBBP8(NM_002894:exon6:c.362-2A>C;NM_203292:exon6:c.362-2A>C;NM_203291:exon6:c.362-2A>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.362-2A>C;ENST00000327155:exon6:c.362-2A>C;ENST00000399722:exon6:c.362-2A>C;ENST00000399725:exon6:c.362-2A>C;ENST00000399721:exon6:c.362-2A>C;ENST00000360790:exon6:c.362-2A>C;ENST00000577445:exon2:c.78-2A>C)	.	.	0.999982367678216	0.788
18	20555114	A	G	18	22975151	y	y	splicing	RBBP8(NM_002894:exon6:c.362-2A>G;NM_203292:exon6:c.362-2A>G;NM_203291:exon6:c.362-2A>G)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.362-2A>G;ENST00000327155:exon6:c.362-2A>G;ENST00000399722:exon6:c.362-2A>G;ENST00000399725:exon6:c.362-2A>G;ENST00000399721:exon6:c.362-2A>G;ENST00000360790:exon6:c.362-2A>G;ENST00000577445:exon2:c.78-2A>G)	.	.	0.999982367678216	0.788
18	20555114	A	T	18	22975151	y	y	splicing	RBBP8(NM_002894:exon6:c.362-2A>T;NM_203292:exon6:c.362-2A>T;NM_203291:exon6:c.362-2A>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.362-2A>T;ENST00000327155:exon6:c.362-2A>T;ENST00000399722:exon6:c.362-2A>T;ENST00000399725:exon6:c.362-2A>T;ENST00000399721:exon6:c.362-2A>T;ENST00000360790:exon6:c.362-2A>T;ENST00000577445:exon2:c.78-2A>T)	.	.	0.999977684002918	0.778
18	20555115	G	A	18	22975152	y	y	splicing	RBBP8(NM_002894:exon6:c.362-1G>A;NM_203292:exon6:c.362-1G>A;NM_203291:exon6:c.362-1G>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.362-1G>A;ENST00000327155:exon6:c.362-1G>A;ENST00000399722:exon6:c.362-1G>A;ENST00000399725:exon6:c.362-1G>A;ENST00000399721:exon6:c.362-1G>A;ENST00000360790:exon6:c.362-1G>A;ENST00000577445:exon2:c.78-1G>A)	.	.	0.999974698789872	0.83
18	20555115	G	C	18	22975152	y	y	splicing	RBBP8(NM_002894:exon6:c.362-1G>C;NM_203292:exon6:c.362-1G>C;NM_203291:exon6:c.362-1G>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.362-1G>C;ENST00000327155:exon6:c.362-1G>C;ENST00000399722:exon6:c.362-1G>C;ENST00000399725:exon6:c.362-1G>C;ENST00000399721:exon6:c.362-1G>C;ENST00000360790:exon6:c.362-1G>C;ENST00000577445:exon2:c.78-1G>C)	.	.	0.999974698789872	0.798
18	20555115	G	T	18	22975152	y	y	splicing	RBBP8(NM_002894:exon6:c.362-1G>T;NM_203292:exon6:c.362-1G>T;NM_203291:exon6:c.362-1G>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.362-1G>T;ENST00000327155:exon6:c.362-1G>T;ENST00000399722:exon6:c.362-1G>T;ENST00000399725:exon6:c.362-1G>T;ENST00000399721:exon6:c.362-1G>T;ENST00000360790:exon6:c.362-1G>T;ENST00000577445:exon2:c.78-1G>T)	.	.	0.999974698789872	0.816
18	20555116	T	A	18	22975153	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.T362A:p.M121K;RBBP8:NM_203292:exon6:c.T362A:p.M121K;RBBP8:NM_203291:exon6:c.T362A:p.M121K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.T362A:p.M121K;ENSG00000101773:ENST00000399725:exon6:c.T362A:p.M121K;ENSG00000101773:ENST00000399722:exon6:c.T362A:p.M121K;ENSG00000101773:ENST00000582354:exon8:c.T362A:p.M121K;ENSG00000101773:ENST00000399721:exon6:c.T362A:p.M121K;ENSG00000101773:ENST00000360790:exon6:c.T362A:p.M121K;	0.0395608294026148	0.406
18	20555116	T	C	18	22975153	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.T362C:p.M121T;RBBP8:NM_203292:exon6:c.T362C:p.M121T;RBBP8:NM_203291:exon6:c.T362C:p.M121T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.T362C:p.M121T;ENSG00000101773:ENST00000399725:exon6:c.T362C:p.M121T;ENSG00000101773:ENST00000399722:exon6:c.T362C:p.M121T;ENSG00000101773:ENST00000582354:exon8:c.T362C:p.M121T;ENSG00000101773:ENST00000399721:exon6:c.T362C:p.M121T;ENSG00000101773:ENST00000360790:exon6:c.T362C:p.M121T;	0.00723619933128176	0.042
18	20555116	T	G	18	22975153	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.T362G:p.M121R;RBBP8:NM_203292:exon6:c.T362G:p.M121R;RBBP8:NM_203291:exon6:c.T362G:p.M121R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.T362G:p.M121R;ENSG00000101773:ENST00000399725:exon6:c.T362G:p.M121R;ENSG00000101773:ENST00000399722:exon6:c.T362G:p.M121R;ENSG00000101773:ENST00000582354:exon8:c.T362G:p.M121R;ENSG00000101773:ENST00000399721:exon6:c.T362G:p.M121R;ENSG00000101773:ENST00000360790:exon6:c.T362G:p.M121R;	0.0607454836795577	0.364
18	20555117	G	A	18	22975154	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.G363A:p.M121I;RBBP8:NM_203292:exon6:c.G363A:p.M121I;RBBP8:NM_203291:exon6:c.G363A:p.M121I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.G363A:p.M121I;ENSG00000101773:ENST00000399725:exon6:c.G363A:p.M121I;ENSG00000101773:ENST00000399722:exon6:c.G363A:p.M121I;ENSG00000101773:ENST00000582354:exon8:c.G363A:p.M121I;ENSG00000101773:ENST00000399721:exon6:c.G363A:p.M121I;ENSG00000101773:ENST00000360790:exon6:c.G363A:p.M121I;	0.965251602324175	0.644
18	20555117	G	C	18	22975154	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.G363C:p.M121I;RBBP8:NM_203292:exon6:c.G363C:p.M121I;RBBP8:NM_203291:exon6:c.G363C:p.M121I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.G363C:p.M121I;ENSG00000101773:ENST00000399725:exon6:c.G363C:p.M121I;ENSG00000101773:ENST00000399722:exon6:c.G363C:p.M121I;ENSG00000101773:ENST00000582354:exon8:c.G363C:p.M121I;ENSG00000101773:ENST00000399721:exon6:c.G363C:p.M121I;ENSG00000101773:ENST00000360790:exon6:c.G363C:p.M121I;	0.964371404230577	0.666
18	20555117	G	T	18	22975154	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.G363T:p.M121I;RBBP8:NM_203292:exon6:c.G363T:p.M121I;RBBP8:NM_203291:exon6:c.G363T:p.M121I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.G363T:p.M121I;ENSG00000101773:ENST00000399725:exon6:c.G363T:p.M121I;ENSG00000101773:ENST00000399722:exon6:c.G363T:p.M121I;ENSG00000101773:ENST00000582354:exon8:c.G363T:p.M121I;ENSG00000101773:ENST00000399721:exon6:c.G363T:p.M121I;ENSG00000101773:ENST00000360790:exon6:c.G363T:p.M121I;	0.941040378688645	0.736
18	20555180	T	A	18	22975217	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon6:c.T426A:p.I142I;RBBP8:NM_203292:exon6:c.T426A:p.I142I;RBBP8:NM_203291:exon6:c.T426A:p.I142I;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.T426A:p.I142I;ENSG00000101773:ENST00000399725:exon6:c.T426A:p.I142I;ENSG00000101773:ENST00000399722:exon6:c.T426A:p.I142I;ENSG00000101773:ENST00000582354:exon8:c.T426A:p.I142I;ENSG00000101773:ENST00000399721:exon6:c.T426A:p.I142I;ENSG00000101773:ENST00000360790:exon6:c.T426A:p.I142I;	2.21084267577724E-5	0.0
18	20555180	T	C	18	22975217	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon6:c.T426C:p.I142I;RBBP8:NM_203292:exon6:c.T426C:p.I142I;RBBP8:NM_203291:exon6:c.T426C:p.I142I;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.T426C:p.I142I;ENSG00000101773:ENST00000399725:exon6:c.T426C:p.I142I;ENSG00000101773:ENST00000399722:exon6:c.T426C:p.I142I;ENSG00000101773:ENST00000582354:exon8:c.T426C:p.I142I;ENSG00000101773:ENST00000399721:exon6:c.T426C:p.I142I;ENSG00000101773:ENST00000360790:exon6:c.T426C:p.I142I;	2.19760616926552E-5	0.0
18	20555180	T	G	18	22975217	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.T426G:p.I142M;RBBP8:NM_203292:exon6:c.T426G:p.I142M;RBBP8:NM_203291:exon6:c.T426G:p.I142M;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.T426G:p.I142M;ENSG00000101773:ENST00000399725:exon6:c.T426G:p.I142M;ENSG00000101773:ENST00000399722:exon6:c.T426G:p.I142M;ENSG00000101773:ENST00000582354:exon8:c.T426G:p.I142M;ENSG00000101773:ENST00000399721:exon6:c.T426G:p.I142M;ENSG00000101773:ENST00000360790:exon6:c.T426G:p.I142M;	1.48184765719263E-5	0.006
18	20555181	G	A	18	22975218	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.G427A:p.E143K;RBBP8:NM_203292:exon6:c.G427A:p.E143K;RBBP8:NM_203291:exon6:c.G427A:p.E143K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.G427A:p.E143K;ENSG00000101773:ENST00000399725:exon6:c.G427A:p.E143K;ENSG00000101773:ENST00000399722:exon6:c.G427A:p.E143K;ENSG00000101773:ENST00000582354:exon8:c.G427A:p.E143K;ENSG00000101773:ENST00000399721:exon6:c.G427A:p.E143K;ENSG00000101773:ENST00000360790:exon6:c.G427A:p.E143K;	0.0240820582629148	0.224
18	20555181	G	C	18	22975218	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.G427C:p.E143Q;RBBP8:NM_203292:exon6:c.G427C:p.E143Q;RBBP8:NM_203291:exon6:c.G427C:p.E143Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.G427C:p.E143Q;ENSG00000101773:ENST00000399725:exon6:c.G427C:p.E143Q;ENSG00000101773:ENST00000399722:exon6:c.G427C:p.E143Q;ENSG00000101773:ENST00000582354:exon8:c.G427C:p.E143Q;ENSG00000101773:ENST00000399721:exon6:c.G427C:p.E143Q;ENSG00000101773:ENST00000360790:exon6:c.G427C:p.E143Q;	0.0420490518057839	0.202
18	20555181	G	T	18	22975218	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon6:c.G427T:p.E143X;RBBP8:NM_203292:exon6:c.G427T:p.E143X;RBBP8:NM_203291:exon6:c.G427T:p.E143X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon6:c.G427T:p.E143X;ENSG00000101773:ENST00000399725:exon6:c.G427T:p.E143X;ENSG00000101773:ENST00000399722:exon6:c.G427T:p.E143X;ENSG00000101773:ENST00000582354:exon8:c.G427T:p.E143X;ENSG00000101773:ENST00000399721:exon6:c.G427T:p.E143X;ENSG00000101773:ENST00000360790:exon6:c.G427T:p.E143X;	0.65232868904592	0.604
18	20555182	A	C	18	22975219	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.A428C:p.E143A;RBBP8:NM_203292:exon6:c.A428C:p.E143A;RBBP8:NM_203291:exon6:c.A428C:p.E143A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.A428C:p.E143A;ENSG00000101773:ENST00000399725:exon6:c.A428C:p.E143A;ENSG00000101773:ENST00000399722:exon6:c.A428C:p.E143A;ENSG00000101773:ENST00000582354:exon8:c.A428C:p.E143A;ENSG00000101773:ENST00000399721:exon6:c.A428C:p.E143A;ENSG00000101773:ENST00000360790:exon6:c.A428C:p.E143A;	1.14040472690881E-4	0.09
18	20555182	A	G	18	22975219	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.A428G:p.E143G;RBBP8:NM_203292:exon6:c.A428G:p.E143G;RBBP8:NM_203291:exon6:c.A428G:p.E143G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.A428G:p.E143G;ENSG00000101773:ENST00000399725:exon6:c.A428G:p.E143G;ENSG00000101773:ENST00000399722:exon6:c.A428G:p.E143G;ENSG00000101773:ENST00000582354:exon8:c.A428G:p.E143G;ENSG00000101773:ENST00000399721:exon6:c.A428G:p.E143G;ENSG00000101773:ENST00000360790:exon6:c.A428G:p.E143G;	9.31287358880487E-5	0.162
18	20555182	A	T	18	22975219	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon6:c.A428T:p.E143V;RBBP8:NM_203292:exon6:c.A428T:p.E143V;RBBP8:NM_203291:exon6:c.A428T:p.E143V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon6:c.A428T:p.E143V;ENSG00000101773:ENST00000399725:exon6:c.A428T:p.E143V;ENSG00000101773:ENST00000399722:exon6:c.A428T:p.E143V;ENSG00000101773:ENST00000582354:exon8:c.A428T:p.E143V;ENSG00000101773:ENST00000399721:exon6:c.A428T:p.E143V;ENSG00000101773:ENST00000360790:exon6:c.A428T:p.E143V;	2.04625338425389E-4	0.078
18	20555183	G	A	18	22975220	y	y	splicing	RBBP8(NM_002894:exon6:c.428+1G>A;NM_203292:exon6:c.428+1G>A;NM_203291:exon6:c.428+1G>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.428+1G>A;ENST00000327155:exon6:c.428+1G>A;ENST00000399722:exon6:c.428+1G>A;ENST00000399725:exon6:c.428+1G>A;ENST00000399721:exon6:c.428+1G>A;ENST00000360790:exon6:c.428+1G>A;ENST00000577445:exon2:c.144+1G>A;ENST00000585177:exon1:c.39+1G>A)	.	.	0.999960200702261	0.934
18	20555183	G	C	18	22975220	y	y	splicing	RBBP8(NM_002894:exon6:c.428+1G>C;NM_203292:exon6:c.428+1G>C;NM_203291:exon6:c.428+1G>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.428+1G>C;ENST00000327155:exon6:c.428+1G>C;ENST00000399722:exon6:c.428+1G>C;ENST00000399725:exon6:c.428+1G>C;ENST00000399721:exon6:c.428+1G>C;ENST00000360790:exon6:c.428+1G>C;ENST00000577445:exon2:c.144+1G>C;ENST00000585177:exon1:c.39+1G>C)	.	.	0.999958812450268	0.922
18	20555183	G	T	18	22975220	y	y	splicing	RBBP8(NM_002894:exon6:c.428+1G>T;NM_203292:exon6:c.428+1G>T;NM_203291:exon6:c.428+1G>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.428+1G>T;ENST00000327155:exon6:c.428+1G>T;ENST00000399722:exon6:c.428+1G>T;ENST00000399725:exon6:c.428+1G>T;ENST00000399721:exon6:c.428+1G>T;ENST00000360790:exon6:c.428+1G>T;ENST00000577445:exon2:c.144+1G>T;ENST00000585177:exon1:c.39+1G>T)	.	.	0.999960200702261	0.932
18	20555184	T	A	18	22975221	y	y	splicing	RBBP8(NM_002894:exon6:c.428+2T>A;NM_203292:exon6:c.428+2T>A;NM_203291:exon6:c.428+2T>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.428+2T>A;ENST00000327155:exon6:c.428+2T>A;ENST00000399722:exon6:c.428+2T>A;ENST00000399725:exon6:c.428+2T>A;ENST00000399721:exon6:c.428+2T>A;ENST00000360790:exon6:c.428+2T>A;ENST00000577445:exon2:c.144+2T>A;ENST00000585177:exon1:c.39+2T>A)	.	.	0.99998382861657	0.862
18	20555184	T	C	18	22975221	y	y	splicing	RBBP8(NM_002894:exon6:c.428+2T>C;NM_203292:exon6:c.428+2T>C;NM_203291:exon6:c.428+2T>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.428+2T>C;ENST00000327155:exon6:c.428+2T>C;ENST00000399722:exon6:c.428+2T>C;ENST00000399725:exon6:c.428+2T>C;ENST00000399721:exon6:c.428+2T>C;ENST00000360790:exon6:c.428+2T>C;ENST00000577445:exon2:c.144+2T>C;ENST00000585177:exon1:c.39+2T>C)	.	.	0.997366878627259	0.706
18	20555184	T	G	18	22975221	y	y	splicing	RBBP8(NM_002894:exon6:c.428+2T>G;NM_203292:exon6:c.428+2T>G;NM_203291:exon6:c.428+2T>G)	.	.	splicing	ENSG00000101773(ENST00000582354:exon8:c.428+2T>G;ENST00000327155:exon6:c.428+2T>G;ENST00000399722:exon6:c.428+2T>G;ENST00000399725:exon6:c.428+2T>G;ENST00000399721:exon6:c.428+2T>G;ENST00000360790:exon6:c.428+2T>G;ENST00000577445:exon2:c.144+2T>G;ENST00000585177:exon1:c.39+2T>G)	.	.	0.99998382861657	0.844
18	20555185	A	C	18	22975222	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999917565873359	0.874
18	20555185	A	G	18	22975222	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0111825511370545	0.214
18	20555185	A	T	18	22975222	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999934087313717	0.848
18	20555186	A	C	18	22975223	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997243649755139	0.74
18	20555186	A	G	18	22975223	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.95212532502518	0.894
18	20555186	A	T	18	22975223	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.992749918590993	0.834
18	20555187	G	A	18	22975224	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999976706557451	0.974
18	20555187	G	C	18	22975224	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999976706557451	0.986
18	20555187	G	T	18	22975224	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999967531173424	1.0
18	20555188	T	A	18	22975225	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.986843425742123	0.678
18	20555188	T	C	18	22975225	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.977141301074887	0.742
18	20555188	T	G	18	22975225	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.9890994672726	0.738
18	20555189	A	C	18	22975226	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00230665580346477	0.01
18	20555189	A	G	18	22975226	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00254302849335041	0.012
18	20555189	A	T	18	22975226	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00245359813169785	0.012
18	20555190	T	A	18	22975227	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.05409613745848E-4	0.002
18	20555190	T	C	18	22975227	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.73892773368477E-4	0.002
18	20555190	T	G	18	22975227	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.77978745885032E-4	0.006
18	20557741	A	C	18	22977778	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.58927937202005E-5	0.0
18	20557741	A	G	18	22977778	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.58927937202005E-5	0.0
18	20557741	A	T	18	22977778	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.57245582126943E-5	0.006
18	20557742	C	A	18	22977779	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.78267216200356E-5	0.008
18	20557742	C	G	18	22977779	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.78267216200356E-5	0.004
18	20557742	C	T	18	22977779	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.31003130927308E-5	0.008
18	20557743	T	A	18	22977780	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.08739841361144E-4	0.004
18	20557743	T	C	18	22977780	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.69884688945688E-4	0.008
18	20557743	T	G	18	22977780	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.69884688945688E-4	0.008
18	20557744	G	A	18	22977781	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.0180149904064E-5	0.006
18	20557744	G	C	18	22977781	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.17833868802641E-5	0.0
18	20557744	G	T	18	22977781	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.27145488438373E-5	0.0
18	20557745	C	A	18	22977782	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.4631346304159E-5	0.004
18	20557745	C	G	18	22977782	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.4631346304159E-5	0.004
18	20557745	C	T	18	22977782	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.4631346304159E-5	0.004
18	20557746	C	A	18	22977783	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.68219155180855E-5	0.0
18	20557746	C	G	18	22977783	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.68219155180855E-5	0.0
18	20557746	C	T	18	22977783	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.68219155180855E-5	0.0
18	20557747	T	A	18	22977784	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.27163650926202E-4	0.014
18	20557747	T	C	18	22977784	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.57123356397867E-5	0.012
18	20557747	T	G	18	22977784	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.57123356397867E-5	0.012
18	20557748	T	A	18	22977785	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.87872098031522E-5	0.0
18	20557748	T	C	18	22977785	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.15849948155271E-5	0.0
18	20557748	T	G	18	22977785	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.15849948155271E-5	0.0
18	20557749	C	A	18	22977786	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00115964754627815	0.032
18	20557749	C	G	18	22977786	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.56985590154249E-4	0.03
18	20557749	C	T	18	22977786	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00132111254032692	0.032
18	20557750	C	A	18	22977787	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.99153316237132E-5	0.0
18	20557750	C	G	18	22977787	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.99153316237132E-5	0.0
18	20557750	C	T	18	22977787	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.99153316237132E-5	0.0
18	20557751	A	C	18	22977788	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.40-2A>C)	.	.	3.22311398176536E-5	0.008
18	20557751	A	G	18	22977788	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.40-2A>G)	.	.	3.22311398176536E-5	0.008
18	20557751	A	T	18	22977788	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.40-2A>T)	.	.	3.22311398176536E-5	0.006
18	20557752	G	A	18	22977789	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.40-1G>A)	.	.	1.27145488438373E-5	0.004
18	20557752	G	C	18	22977789	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.40-1G>C)	.	.	1.17833868802641E-5	0.0
18	20557752	G	T	18	22977789	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.40-1G>T)	.	.	1.27145488438373E-5	0.0
18	20557753	G	A	18	22977790	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	1.17833868802641E-5	0.0
18	20557753	G	C	18	22977790	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	1.17833868802641E-5	0.0
18	20557753	G	T	18	22977790	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	1.17833868802641E-5	0.0
18	20557754	A	C	18	22977791	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	1.48367148474546E-5	0.002
18	20557754	A	G	18	22977791	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	1.48367148474546E-5	0.0
18	20557754	A	T	18	22977791	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	6.4243997895107E-5	0.006
18	20557848	A	C	18	22977885	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	5.69439264402225E-5	0.0
18	20557848	A	G	18	22977885	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	5.69439264402225E-5	0.0
18	20557848	A	T	18	22977885	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	5.69439264402225E-5	0.0
18	20557849	G	A	18	22977886	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	4.24975915077222E-5	0.0
18	20557849	G	C	18	22977886	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	4.24975915077222E-5	0.0
18	20557849	G	T	18	22977886	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	unknown	UNKNOWN	4.24975915077222E-5	0.0
18	20557850	A	C	18	22977887	n	y	intronic	RBBP8	.	.	UTR3	ENSG00000101773	.	.	5.15941453541388E-5	0.0
18	20557850	A	G	18	22977887	n	y	intronic	RBBP8	.	.	UTR3	ENSG00000101773	.	.	5.15941453541388E-5	0.0
18	20557850	A	T	18	22977887	n	y	intronic	RBBP8	.	.	UTR3	ENSG00000101773	.	.	5.69439264402225E-5	0.0
18	20557851	G	A	18	22977888	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.137+1G>A)	.	.	1.35931931987447E-4	0.004
18	20557851	G	C	18	22977888	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.137+1G>C)	.	.	8.30297025138908E-5	0.002
18	20557851	G	T	18	22977888	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.137+1G>T)	.	.	9.66122568896318E-5	0.002
18	20557852	T	A	18	22977889	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.137+2T>A)	.	.	0.00223172515695393	0.008
18	20557852	T	C	18	22977889	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.137+2T>C)	.	.	0.00223172515695393	0.006
18	20557852	T	G	18	22977889	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000585177:exon2:c.137+2T>G)	.	.	0.00223172515695393	0.008
18	20557853	A	C	18	22977890	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.002
18	20557853	A	G	18	22977890	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.002
18	20557853	A	T	18	22977890	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.88491508750615E-4	0.002
18	20557854	A	C	18	22977891	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.49702646665041E-5	0.004
18	20557854	A	G	18	22977891	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.49702646665041E-5	0.004
18	20557854	A	T	18	22977891	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.35428655471156E-5	0.004
18	20557855	A	C	18	22977892	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.0
18	20557855	A	G	18	22977892	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.0
18	20557855	A	T	18	22977892	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00138407860929702	0.0
18	20557856	T	A	18	22977893	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00110797651291257	0.0
18	20557856	T	C	18	22977893	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.0
18	20557856	T	G	18	22977893	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.67864951622834E-4	0.0
18	20557857	A	C	18	22977894	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.76020749564062E-5	0.0
18	20557857	A	G	18	22977894	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.76020749564062E-5	0.0
18	20557857	A	T	18	22977894	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.76020749564062E-5	0.0
18	20557858	T	A	18	22977895	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.76020749564062E-5	0.0
18	20557858	T	C	18	22977895	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.76020749564062E-5	0.0
18	20557858	T	G	18	22977895	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.76020749564062E-5	0.0
18	20562169	A	C	18	22982206	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.11666937757411E-5	0.002
18	20562169	A	G	18	22982206	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.72524798828744E-5	0.006
18	20562169	A	T	18	22982206	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.10474383491937E-5	0.01
18	20562170	T	A	18	22982207	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00722509466784941	0.232
18	20562170	T	C	18	22982207	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00224689375023247	0.044
18	20562170	T	G	18	22982207	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999351679687245	0.9
18	20562171	T	A	18	22982208	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00561041542437718	0.09
18	20562171	T	C	18	22982208	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.62134098199874E-4	0.0
18	20562171	T	G	18	22982208	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00276631760378734	0.112
18	20562172	C	A	18	22982209	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.63736494432487E-4	0.04
18	20562172	C	G	18	22982209	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.29984910999374E-4	0.038
18	20562172	C	T	18	22982209	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.51715955169506E-5	0.0
18	20562173	T	A	18	22982210	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00486515543691936	0.172
18	20562173	T	C	18	22982210	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.78658859030328E-4	0.002
18	20562173	T	G	18	22982210	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00388202904552678	0.096
18	20562174	T	A	18	22982211	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.24228221723238E-4	0.018
18	20562174	T	C	18	22982211	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.94053551055954E-5	0.0
18	20562174	T	G	18	22982211	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.73408913207209E-4	0.014
18	20562175	C	A	18	22982212	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00948659269536681	0.072
18	20562175	C	G	18	22982212	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00806822901934757	0.082
18	20562175	C	T	18	22982212	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.65836414134689E-5	0.0
18	20562176	T	A	18	22982213	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00299456947374822	0.234
18	20562176	T	C	18	22982213	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.95844944184455E-5	0.034
18	20562176	T	G	18	22982213	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0239706021519069	0.246
18	20562177	C	A	18	22982214	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.36372488302126E-4	0.006
18	20562177	C	G	18	22982214	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.74707603293952E-4	0.002
18	20562177	C	T	18	22982214	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.0132759630905E-4	0.004
18	20562178	T	A	18	22982215	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0775457798293231	0.398
18	20562178	T	C	18	22982215	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.22758634205913E-4	0.028
18	20562178	T	G	18	22982215	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.994871631941514	0.604
18	20562179	A	C	18	22982216	y	y	splicing	RBBP8(NM_002894:exon7:c.429-2A>C;NM_203292:exon7:c.429-2A>C;NM_203291:exon7:c.429-2A>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.429-2A>C;ENST00000327155:exon7:c.429-2A>C;ENST00000399722:exon7:c.429-2A>C;ENST00000399725:exon7:c.429-2A>C;ENST00000399721:exon7:c.429-2A>C;ENST00000360790:exon7:c.429-2A>C;ENST00000577445:exon3:c.145-2A>C;ENST00000585177:exon3:c.138-2A>C)	.	.	0.999978822976858	0.706
18	20562179	A	G	18	22982216	y	y	splicing	RBBP8(NM_002894:exon7:c.429-2A>G;NM_203292:exon7:c.429-2A>G;NM_203291:exon7:c.429-2A>G)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.429-2A>G;ENST00000327155:exon7:c.429-2A>G;ENST00000399722:exon7:c.429-2A>G;ENST00000399725:exon7:c.429-2A>G;ENST00000399721:exon7:c.429-2A>G;ENST00000360790:exon7:c.429-2A>G;ENST00000577445:exon3:c.145-2A>G;ENST00000585177:exon3:c.138-2A>G)	.	.	0.999978822976858	0.706
18	20562179	A	T	18	22982216	y	y	splicing	RBBP8(NM_002894:exon7:c.429-2A>T;NM_203292:exon7:c.429-2A>T;NM_203291:exon7:c.429-2A>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.429-2A>T;ENST00000327155:exon7:c.429-2A>T;ENST00000399722:exon7:c.429-2A>T;ENST00000399725:exon7:c.429-2A>T;ENST00000399721:exon7:c.429-2A>T;ENST00000360790:exon7:c.429-2A>T;ENST00000577445:exon3:c.145-2A>T;ENST00000585177:exon3:c.138-2A>T)	.	.	0.999974296443804	0.71
18	20562180	G	A	18	22982217	y	y	splicing	RBBP8(NM_002894:exon7:c.429-1G>A;NM_203292:exon7:c.429-1G>A;NM_203291:exon7:c.429-1G>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.429-1G>A;ENST00000327155:exon7:c.429-1G>A;ENST00000399722:exon7:c.429-1G>A;ENST00000399725:exon7:c.429-1G>A;ENST00000399721:exon7:c.429-1G>A;ENST00000360790:exon7:c.429-1G>A;ENST00000577445:exon3:c.145-1G>A;ENST00000585177:exon3:c.138-1G>A)	.	.	0.999910928710739	0.702
18	20562180	G	C	18	22982217	y	y	splicing	RBBP8(NM_002894:exon7:c.429-1G>C;NM_203292:exon7:c.429-1G>C;NM_203291:exon7:c.429-1G>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.429-1G>C;ENST00000327155:exon7:c.429-1G>C;ENST00000399722:exon7:c.429-1G>C;ENST00000399725:exon7:c.429-1G>C;ENST00000399721:exon7:c.429-1G>C;ENST00000360790:exon7:c.429-1G>C;ENST00000577445:exon3:c.145-1G>C;ENST00000585177:exon3:c.138-1G>C)	.	.	0.999910928710739	0.688
18	20562180	G	T	18	22982217	y	y	splicing	RBBP8(NM_002894:exon7:c.429-1G>T;NM_203292:exon7:c.429-1G>T;NM_203291:exon7:c.429-1G>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.429-1G>T;ENST00000327155:exon7:c.429-1G>T;ENST00000399722:exon7:c.429-1G>T;ENST00000399725:exon7:c.429-1G>T;ENST00000399721:exon7:c.429-1G>T;ENST00000360790:exon7:c.429-1G>T;ENST00000577445:exon3:c.145-1G>T;ENST00000585177:exon3:c.138-1G>T)	.	.	0.999910928710739	0.7
18	20562181	G	A	18	22982218	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon7:c.G429A:p.E143E;RBBP8:NM_203292:exon7:c.G429A:p.E143E;RBBP8:NM_203291:exon7:c.G429A:p.E143E;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.G429A:p.E143E;ENSG00000101773:ENST00000399725:exon7:c.G429A:p.E143E;ENSG00000101773:ENST00000399722:exon7:c.G429A:p.E143E;ENSG00000101773:ENST00000582354:exon9:c.G429A:p.E143E;ENSG00000101773:ENST00000399721:exon7:c.G429A:p.E143E;ENSG00000101773:ENST00000360790:exon7:c.G429A:p.E143E;	0.0628862446852857	0.286
18	20562181	G	C	18	22982218	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.G429C:p.E143D;RBBP8:NM_203292:exon7:c.G429C:p.E143D;RBBP8:NM_203291:exon7:c.G429C:p.E143D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.G429C:p.E143D;ENSG00000101773:ENST00000399725:exon7:c.G429C:p.E143D;ENSG00000101773:ENST00000399722:exon7:c.G429C:p.E143D;ENSG00000101773:ENST00000582354:exon9:c.G429C:p.E143D;ENSG00000101773:ENST00000399721:exon7:c.G429C:p.E143D;ENSG00000101773:ENST00000360790:exon7:c.G429C:p.E143D;	0.996703167798066	0.948
18	20562181	G	T	18	22982218	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.G429T:p.E143D;RBBP8:NM_203292:exon7:c.G429T:p.E143D;RBBP8:NM_203291:exon7:c.G429T:p.E143D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.G429T:p.E143D;ENSG00000101773:ENST00000399725:exon7:c.G429T:p.E143D;ENSG00000101773:ENST00000399722:exon7:c.G429T:p.E143D;ENSG00000101773:ENST00000582354:exon9:c.G429T:p.E143D;ENSG00000101773:ENST00000399721:exon7:c.G429T:p.E143D;ENSG00000101773:ENST00000360790:exon7:c.G429T:p.E143D;	0.998212538488072	0.93
18	20562182	A	C	18	22982219	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.A430C:p.N144H;RBBP8:NM_203292:exon7:c.A430C:p.N144H;RBBP8:NM_203291:exon7:c.A430C:p.N144H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.A430C:p.N144H;ENSG00000101773:ENST00000399725:exon7:c.A430C:p.N144H;ENSG00000101773:ENST00000399722:exon7:c.A430C:p.N144H;ENSG00000101773:ENST00000582354:exon9:c.A430C:p.N144H;ENSG00000101773:ENST00000399721:exon7:c.A430C:p.N144H;ENSG00000101773:ENST00000360790:exon7:c.A430C:p.N144H;	0.666618127315519	0.61
18	20562182	A	G	18	22982219	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.A430G:p.N144D;RBBP8:NM_203292:exon7:c.A430G:p.N144D;RBBP8:NM_203291:exon7:c.A430G:p.N144D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.A430G:p.N144D;ENSG00000101773:ENST00000399725:exon7:c.A430G:p.N144D;ENSG00000101773:ENST00000399722:exon7:c.A430G:p.N144D;ENSG00000101773:ENST00000582354:exon9:c.A430G:p.N144D;ENSG00000101773:ENST00000399721:exon7:c.A430G:p.N144D;ENSG00000101773:ENST00000360790:exon7:c.A430G:p.N144D;	0.705756120423809	0.548
18	20562182	A	T	18	22982219	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.A430T:p.N144Y;RBBP8:NM_203292:exon7:c.A430T:p.N144Y;RBBP8:NM_203291:exon7:c.A430T:p.N144Y;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.A430T:p.N144Y;ENSG00000101773:ENST00000399725:exon7:c.A430T:p.N144Y;ENSG00000101773:ENST00000399722:exon7:c.A430T:p.N144Y;ENSG00000101773:ENST00000582354:exon9:c.A430T:p.N144Y;ENSG00000101773:ENST00000399721:exon7:c.A430T:p.N144Y;ENSG00000101773:ENST00000360790:exon7:c.A430T:p.N144Y;	0.415524328116628	0.61
18	20562354	A	C	18	22982391	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.A602C:p.N201T;RBBP8:NM_203292:exon7:c.A602C:p.N201T;RBBP8:NM_203291:exon7:c.A602C:p.N201T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.A602C:p.N201T;ENSG00000101773:ENST00000399725:exon7:c.A602C:p.N201T;ENSG00000101773:ENST00000399722:exon7:c.A602C:p.N201T;ENSG00000101773:ENST00000582354:exon9:c.A602C:p.N201T;ENSG00000101773:ENST00000399721:exon7:c.A602C:p.N201T;ENSG00000101773:ENST00000360790:exon7:c.A602C:p.N201T;	8.5072231976859E-5	0.0
18	20562354	A	G	18	22982391	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.A602G:p.N201S;RBBP8:NM_203292:exon7:c.A602G:p.N201S;RBBP8:NM_203291:exon7:c.A602G:p.N201S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.A602G:p.N201S;ENSG00000101773:ENST00000399725:exon7:c.A602G:p.N201S;ENSG00000101773:ENST00000399722:exon7:c.A602G:p.N201S;ENSG00000101773:ENST00000582354:exon9:c.A602G:p.N201S;ENSG00000101773:ENST00000399721:exon7:c.A602G:p.N201S;ENSG00000101773:ENST00000360790:exon7:c.A602G:p.N201S;	1.85794417166212E-4	0.004
18	20562354	A	T	18	22982391	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.A602T:p.N201I;RBBP8:NM_203292:exon7:c.A602T:p.N201I;RBBP8:NM_203291:exon7:c.A602T:p.N201I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.A602T:p.N201I;ENSG00000101773:ENST00000399725:exon7:c.A602T:p.N201I;ENSG00000101773:ENST00000399722:exon7:c.A602T:p.N201I;ENSG00000101773:ENST00000582354:exon9:c.A602T:p.N201I;ENSG00000101773:ENST00000399721:exon7:c.A602T:p.N201I;ENSG00000101773:ENST00000360790:exon7:c.A602T:p.N201I;	4.9861881541239E-4	0.156
18	20562355	T	A	18	22982392	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.T603A:p.N201K;RBBP8:NM_203292:exon7:c.T603A:p.N201K;RBBP8:NM_203291:exon7:c.T603A:p.N201K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.T603A:p.N201K;ENSG00000101773:ENST00000399725:exon7:c.T603A:p.N201K;ENSG00000101773:ENST00000399722:exon7:c.T603A:p.N201K;ENSG00000101773:ENST00000582354:exon9:c.T603A:p.N201K;ENSG00000101773:ENST00000399721:exon7:c.T603A:p.N201K;ENSG00000101773:ENST00000360790:exon7:c.T603A:p.N201K;	0.00349506269154009	0.074
18	20562355	T	C	18	22982392	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon7:c.T603C:p.N201N;RBBP8:NM_203292:exon7:c.T603C:p.N201N;RBBP8:NM_203291:exon7:c.T603C:p.N201N;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.T603C:p.N201N;ENSG00000101773:ENST00000399725:exon7:c.T603C:p.N201N;ENSG00000101773:ENST00000399722:exon7:c.T603C:p.N201N;ENSG00000101773:ENST00000582354:exon9:c.T603C:p.N201N;ENSG00000101773:ENST00000399721:exon7:c.T603C:p.N201N;ENSG00000101773:ENST00000360790:exon7:c.T603C:p.N201N;	0.0126093668806128	0.104
18	20562355	T	G	18	22982392	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.T603G:p.N201K;RBBP8:NM_203292:exon7:c.T603G:p.N201K;RBBP8:NM_203291:exon7:c.T603G:p.N201K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.T603G:p.N201K;ENSG00000101773:ENST00000399725:exon7:c.T603G:p.N201K;ENSG00000101773:ENST00000399722:exon7:c.T603G:p.N201K;ENSG00000101773:ENST00000582354:exon9:c.T603G:p.N201K;ENSG00000101773:ENST00000399721:exon7:c.T603G:p.N201K;ENSG00000101773:ENST00000360790:exon7:c.T603G:p.N201K;	0.00817094358735806	0.12
18	20562356	G	A	18	22982393	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.G604A:p.E202K;RBBP8:NM_203292:exon7:c.G604A:p.E202K;RBBP8:NM_203291:exon7:c.G604A:p.E202K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.G604A:p.E202K;ENSG00000101773:ENST00000399725:exon7:c.G604A:p.E202K;ENSG00000101773:ENST00000399722:exon7:c.G604A:p.E202K;ENSG00000101773:ENST00000582354:exon9:c.G604A:p.E202K;ENSG00000101773:ENST00000399721:exon7:c.G604A:p.E202K;ENSG00000101773:ENST00000360790:exon7:c.G604A:p.E202K;	0.999970966857384	0.99
18	20562356	G	C	18	22982393	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon7:c.G604C:p.E202Q;RBBP8:NM_203292:exon7:c.G604C:p.E202Q;RBBP8:NM_203291:exon7:c.G604C:p.E202Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon7:c.G604C:p.E202Q;ENSG00000101773:ENST00000399725:exon7:c.G604C:p.E202Q;ENSG00000101773:ENST00000399722:exon7:c.G604C:p.E202Q;ENSG00000101773:ENST00000582354:exon9:c.G604C:p.E202Q;ENSG00000101773:ENST00000399721:exon7:c.G604C:p.E202Q;ENSG00000101773:ENST00000360790:exon7:c.G604C:p.E202Q;	0.999992503346227	0.964
18	20562356	G	T	18	22982393	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon7:c.G604T:p.E202X;RBBP8:NM_203292:exon7:c.G604T:p.E202X;RBBP8:NM_203291:exon7:c.G604T:p.E202X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon7:c.G604T:p.E202X;ENSG00000101773:ENST00000399725:exon7:c.G604T:p.E202X;ENSG00000101773:ENST00000399722:exon7:c.G604T:p.E202X;ENSG00000101773:ENST00000582354:exon9:c.G604T:p.E202X;ENSG00000101773:ENST00000399721:exon7:c.G604T:p.E202X;ENSG00000101773:ENST00000360790:exon7:c.G604T:p.E202X;	0.999987571372992	0.986
18	20562357	G	A	18	22982394	y	y	splicing	RBBP8(NM_002894:exon7:c.604+1G>A;NM_203292:exon7:c.604+1G>A;NM_203291:exon7:c.604+1G>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.604+1G>A;ENST00000327155:exon7:c.604+1G>A;ENST00000399722:exon7:c.604+1G>A;ENST00000399725:exon7:c.604+1G>A;ENST00000399721:exon7:c.604+1G>A;ENST00000360790:exon7:c.604+1G>A;ENST00000577445:exon3:c.320+1G>A;ENST00000585177:exon3:c.313+1G>A)	.	.	0.999867827723193	0.916
18	20562357	G	C	18	22982394	y	y	splicing	RBBP8(NM_002894:exon7:c.604+1G>C;NM_203292:exon7:c.604+1G>C;NM_203291:exon7:c.604+1G>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.604+1G>C;ENST00000327155:exon7:c.604+1G>C;ENST00000399722:exon7:c.604+1G>C;ENST00000399725:exon7:c.604+1G>C;ENST00000399721:exon7:c.604+1G>C;ENST00000360790:exon7:c.604+1G>C;ENST00000577445:exon3:c.320+1G>C;ENST00000585177:exon3:c.313+1G>C)	.	.	0.999863217820608	0.914
18	20562357	G	T	18	22982394	y	y	splicing	RBBP8(NM_002894:exon7:c.604+1G>T;NM_203292:exon7:c.604+1G>T;NM_203291:exon7:c.604+1G>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.604+1G>T;ENST00000327155:exon7:c.604+1G>T;ENST00000399722:exon7:c.604+1G>T;ENST00000399725:exon7:c.604+1G>T;ENST00000399721:exon7:c.604+1G>T;ENST00000360790:exon7:c.604+1G>T;ENST00000577445:exon3:c.320+1G>T;ENST00000585177:exon3:c.313+1G>T)	.	.	0.999867827723193	0.914
18	20562358	T	A	18	22982395	y	y	splicing	RBBP8(NM_002894:exon7:c.604+2T>A;NM_203292:exon7:c.604+2T>A;NM_203291:exon7:c.604+2T>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.604+2T>A;ENST00000327155:exon7:c.604+2T>A;ENST00000399722:exon7:c.604+2T>A;ENST00000399725:exon7:c.604+2T>A;ENST00000399721:exon7:c.604+2T>A;ENST00000360790:exon7:c.604+2T>A;ENST00000577445:exon3:c.320+2T>A;ENST00000585177:exon3:c.313+2T>A)	.	.	0.999723362408633	0.794
18	20562358	T	C	18	22982395	y	y	splicing	RBBP8(NM_002894:exon7:c.604+2T>C;NM_203292:exon7:c.604+2T>C;NM_203291:exon7:c.604+2T>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.604+2T>C;ENST00000327155:exon7:c.604+2T>C;ENST00000399722:exon7:c.604+2T>C;ENST00000399725:exon7:c.604+2T>C;ENST00000399721:exon7:c.604+2T>C;ENST00000360790:exon7:c.604+2T>C;ENST00000577445:exon3:c.320+2T>C;ENST00000585177:exon3:c.313+2T>C)	.	.	0.997413292573014	0.818
18	20562358	T	G	18	22982395	y	y	splicing	RBBP8(NM_002894:exon7:c.604+2T>G;NM_203292:exon7:c.604+2T>G;NM_203291:exon7:c.604+2T>G)	.	.	splicing	ENSG00000101773(ENST00000582354:exon9:c.604+2T>G;ENST00000327155:exon7:c.604+2T>G;ENST00000399722:exon7:c.604+2T>G;ENST00000399725:exon7:c.604+2T>G;ENST00000399721:exon7:c.604+2T>G;ENST00000360790:exon7:c.604+2T>G;ENST00000577445:exon3:c.320+2T>G;ENST00000585177:exon3:c.313+2T>G)	.	.	0.999723362408633	0.79
18	20562359	A	C	18	22982396	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.990962723944002	0.806
18	20562359	A	G	18	22982396	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0162784987496721	0.308
18	20562359	A	T	18	22982396	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.983862143667207	0.822
18	20562360	A	C	18	22982397	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.988236221702282	0.582
18	20562360	A	G	18	22982397	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.976517833657829	0.7
18	20562360	A	T	18	22982397	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.983566749070896	0.738
18	20562361	G	A	18	22982398	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997419122834258	0.848
18	20562361	G	C	18	22982398	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998652477392891	0.832
18	20562361	G	T	18	22982398	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.992866241065974	0.694
18	20562362	A	C	18	22982399	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.52810841760254E-4	0.04
18	20562362	A	G	18	22982399	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.10211540213472E-4	0.008
18	20562362	A	T	18	22982399	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.11908499343222E-5	0.012
18	20562363	G	A	18	22982400	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.30700689655512E-4	0.002
18	20562363	G	C	18	22982400	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.30700689655512E-4	0.002
18	20562363	G	T	18	22982400	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.39743605821749E-4	0.002
18	20562364	T	A	18	22982401	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.69844050747639E-4	0.006
18	20562364	T	C	18	22982401	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.97696328587355E-4	0.01
18	20562364	T	G	18	22982401	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.69844050747639E-4	0.042
18	20564837	T	A	18	22984874	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.1633248825676E-4	0.124
18	20564837	T	C	18	22984874	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.53113201139077E-4	0.004
18	20564837	T	G	18	22984874	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.16156848055547E-4	0.184
18	20564838	T	A	18	22984875	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00148389946488946	0.308
18	20564838	T	C	18	22984875	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.66941118853401E-4	0.052
18	20564838	T	G	18	22984875	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.63419784199729E-4	0.228
18	20564839	C	A	18	22984876	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.95349813544712E-5	0.008
18	20564839	C	G	18	22984876	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.46642827275958E-5	0.018
18	20564839	C	T	18	22984876	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.9881326329792E-5	0.0
18	20564840	T	A	18	22984877	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.68930267357062E-4	0.054
18	20564840	T	C	18	22984877	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.01650613618466E-5	0.0
18	20564840	T	G	18	22984877	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.27410629599392E-4	0.082
18	20564841	C	A	18	22984878	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.62789961968046E-5	0.006
18	20564841	C	G	18	22984878	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.49625370033374E-5	0.006
18	20564841	C	T	18	22984878	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.08156114488684E-5	0.01
18	20564842	C	A	18	22984879	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.42917979113269E-4	0.164
18	20564842	C	G	18	22984879	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.14086312838063E-4	0.164
18	20564842	C	T	18	22984879	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.89360309553914E-5	0.012
18	20564843	C	A	18	22984880	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.78897326092368E-4	0.084
18	20564843	C	G	18	22984880	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.1743687340707E-4	0.1
18	20564843	C	T	18	22984880	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.75518625185462E-5	0.002
18	20564844	C	A	18	22984881	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.52624366103612E-4	0.096
18	20564844	C	G	18	22984881	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.91812326350208E-4	0.128
18	20564844	C	T	18	22984881	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.13983592560213E-5	0.0
18	20564845	T	A	18	22984882	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.10950660864412E-5	0.002
18	20564845	T	C	18	22984882	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.34831582760519E-5	0.002
18	20564845	T	G	18	22984882	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.45561062105981E-5	0.002
18	20564846	T	A	18	22984883	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0191523051876144	0.18
18	20564846	T	C	18	22984883	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.54781350229773E-4	0.048
18	20564846	T	G	18	22984883	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997160414705037	0.712
18	20564847	A	C	18	22984884	y	y	splicing	RBBP8(NM_002894:exon8:c.605-2A>C;NM_203292:exon8:c.605-2A>C;NM_203291:exon8:c.605-2A>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon10:c.605-2A>C;ENST00000327155:exon8:c.605-2A>C;ENST00000399722:exon8:c.605-2A>C;ENST00000399725:exon8:c.605-2A>C;ENST00000399721:exon8:c.605-2A>C;ENST00000360790:exon8:c.605-2A>C;ENST00000577445:exon4:c.321-2A>C;ENST00000585177:exon4:c.314-2A>C)	.	.	0.999989614548265	0.74
18	20564847	A	G	18	22984884	y	y	splicing	RBBP8(NM_002894:exon8:c.605-2A>G;NM_203292:exon8:c.605-2A>G;NM_203291:exon8:c.605-2A>G)	.	.	splicing	ENSG00000101773(ENST00000582354:exon10:c.605-2A>G;ENST00000327155:exon8:c.605-2A>G;ENST00000399722:exon8:c.605-2A>G;ENST00000399725:exon8:c.605-2A>G;ENST00000399721:exon8:c.605-2A>G;ENST00000360790:exon8:c.605-2A>G;ENST00000577445:exon4:c.321-2A>G;ENST00000585177:exon4:c.314-2A>G)	.	.	0.999989614548265	0.736
18	20564847	A	T	18	22984884	y	y	splicing	RBBP8(NM_002894:exon8:c.605-2A>T;NM_203292:exon8:c.605-2A>T;NM_203291:exon8:c.605-2A>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon10:c.605-2A>T;ENST00000327155:exon8:c.605-2A>T;ENST00000399722:exon8:c.605-2A>T;ENST00000399725:exon8:c.605-2A>T;ENST00000399721:exon8:c.605-2A>T;ENST00000360790:exon8:c.605-2A>T;ENST00000577445:exon4:c.321-2A>T;ENST00000585177:exon4:c.314-2A>T)	.	.	0.999989614548265	0.776
18	20564848	G	A	18	22984885	y	y	splicing	RBBP8(NM_002894:exon8:c.605-1G>A;NM_203292:exon8:c.605-1G>A;NM_203291:exon8:c.605-1G>A)	.	.	splicing	ENSG00000101773(ENST00000582354:exon10:c.605-1G>A;ENST00000327155:exon8:c.605-1G>A;ENST00000399722:exon8:c.605-1G>A;ENST00000399725:exon8:c.605-1G>A;ENST00000399721:exon8:c.605-1G>A;ENST00000360790:exon8:c.605-1G>A;ENST00000577445:exon4:c.321-1G>A;ENST00000585177:exon4:c.314-1G>A)	.	.	0.99994568797423	0.938
18	20564848	G	C	18	22984885	y	y	splicing	RBBP8(NM_002894:exon8:c.605-1G>C;NM_203292:exon8:c.605-1G>C;NM_203291:exon8:c.605-1G>C)	.	.	splicing	ENSG00000101773(ENST00000582354:exon10:c.605-1G>C;ENST00000327155:exon8:c.605-1G>C;ENST00000399722:exon8:c.605-1G>C;ENST00000399725:exon8:c.605-1G>C;ENST00000399721:exon8:c.605-1G>C;ENST00000360790:exon8:c.605-1G>C;ENST00000577445:exon4:c.321-1G>C;ENST00000585177:exon4:c.314-1G>C)	.	.	0.99994568797423	0.944
18	20564848	G	T	18	22984885	y	y	splicing	RBBP8(NM_002894:exon8:c.605-1G>T;NM_203292:exon8:c.605-1G>T;NM_203291:exon8:c.605-1G>T)	.	.	splicing	ENSG00000101773(ENST00000582354:exon10:c.605-1G>T;ENST00000327155:exon8:c.605-1G>T;ENST00000399722:exon8:c.605-1G>T;ENST00000399725:exon8:c.605-1G>T;ENST00000399721:exon8:c.605-1G>T;ENST00000360790:exon8:c.605-1G>T;ENST00000577445:exon4:c.321-1G>T;ENST00000585177:exon4:c.314-1G>T)	.	.	0.99994568797423	0.938
18	20564849	A	C	18	22984886	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.A605C:p.E202A;RBBP8:NM_203292:exon8:c.A605C:p.E202A;RBBP8:NM_203291:exon8:c.A605C:p.E202A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.A605C:p.E202A;ENSG00000101773:ENST00000399725:exon8:c.A605C:p.E202A;ENSG00000101773:ENST00000399722:exon8:c.A605C:p.E202A;ENSG00000101773:ENST00000582354:exon10:c.A605C:p.E202A;ENSG00000101773:ENST00000399721:exon8:c.A605C:p.E202A;ENSG00000101773:ENST00000360790:exon8:c.A605C:p.E202A;	0.00582988688878608	0.22
18	20564849	A	G	18	22984886	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.A605G:p.E202G;RBBP8:NM_203292:exon8:c.A605G:p.E202G;RBBP8:NM_203291:exon8:c.A605G:p.E202G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.A605G:p.E202G;ENSG00000101773:ENST00000399725:exon8:c.A605G:p.E202G;ENSG00000101773:ENST00000399722:exon8:c.A605G:p.E202G;ENSG00000101773:ENST00000582354:exon10:c.A605G:p.E202G;ENSG00000101773:ENST00000399721:exon8:c.A605G:p.E202G;ENSG00000101773:ENST00000360790:exon8:c.A605G:p.E202G;	0.0151858292526613	0.142
18	20564849	A	T	18	22984886	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.A605T:p.E202V;RBBP8:NM_203292:exon8:c.A605T:p.E202V;RBBP8:NM_203291:exon8:c.A605T:p.E202V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.A605T:p.E202V;ENSG00000101773:ENST00000399725:exon8:c.A605T:p.E202V;ENSG00000101773:ENST00000399722:exon8:c.A605T:p.E202V;ENSG00000101773:ENST00000582354:exon10:c.A605T:p.E202V;ENSG00000101773:ENST00000399721:exon8:c.A605T:p.E202V;ENSG00000101773:ENST00000360790:exon8:c.A605T:p.E202V;	0.00316737448860165	0.15
18	20564850	A	C	18	22984887	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.A606C:p.E202D;RBBP8:NM_203292:exon8:c.A606C:p.E202D;RBBP8:NM_203291:exon8:c.A606C:p.E202D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.A606C:p.E202D;ENSG00000101773:ENST00000399725:exon8:c.A606C:p.E202D;ENSG00000101773:ENST00000399722:exon8:c.A606C:p.E202D;ENSG00000101773:ENST00000582354:exon10:c.A606C:p.E202D;ENSG00000101773:ENST00000399721:exon8:c.A606C:p.E202D;ENSG00000101773:ENST00000360790:exon8:c.A606C:p.E202D;	7.10317665371726E-4	0.126
18	20564850	A	G	18	22984887	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon8:c.A606G:p.E202E;RBBP8:NM_203292:exon8:c.A606G:p.E202E;RBBP8:NM_203291:exon8:c.A606G:p.E202E;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.A606G:p.E202E;ENSG00000101773:ENST00000399725:exon8:c.A606G:p.E202E;ENSG00000101773:ENST00000399722:exon8:c.A606G:p.E202E;ENSG00000101773:ENST00000582354:exon10:c.A606G:p.E202E;ENSG00000101773:ENST00000399721:exon8:c.A606G:p.E202E;ENSG00000101773:ENST00000360790:exon8:c.A606G:p.E202E;	4.38263164280926E-5	0.006
18	20564850	A	T	18	22984887	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.A606T:p.E202D;RBBP8:NM_203292:exon8:c.A606T:p.E202D;RBBP8:NM_203291:exon8:c.A606T:p.E202D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.A606T:p.E202D;ENSG00000101773:ENST00000399725:exon8:c.A606T:p.E202D;ENSG00000101773:ENST00000399722:exon8:c.A606T:p.E202D;ENSG00000101773:ENST00000582354:exon10:c.A606T:p.E202D;ENSG00000101773:ENST00000399721:exon8:c.A606T:p.E202D;ENSG00000101773:ENST00000360790:exon8:c.A606T:p.E202D;	5.89822760315588E-5	0.172
18	20564951	C	A	18	22984988	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.C707A:p.A236D;RBBP8:NM_203292:exon8:c.C707A:p.A236D;RBBP8:NM_203291:exon8:c.C707A:p.A236D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.C707A:p.A236D;ENSG00000101773:ENST00000399725:exon8:c.C707A:p.A236D;ENSG00000101773:ENST00000399722:exon8:c.C707A:p.A236D;ENSG00000101773:ENST00000399721:exon8:c.C707A:p.A236D;ENSG00000101773:ENST00000360790:exon8:c.C707A:p.A236D;	0.00668061974770775	0.132
18	20564951	C	G	18	22984988	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.C707G:p.A236G;RBBP8:NM_203292:exon8:c.C707G:p.A236G;RBBP8:NM_203291:exon8:c.C707G:p.A236G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.C707G:p.A236G;ENSG00000101773:ENST00000399725:exon8:c.C707G:p.A236G;ENSG00000101773:ENST00000399722:exon8:c.C707G:p.A236G;ENSG00000101773:ENST00000399721:exon8:c.C707G:p.A236G;ENSG00000101773:ENST00000360790:exon8:c.C707G:p.A236G;	0.0095938703199112	0.146
18	20564951	C	T	18	22984988	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.C707T:p.A236V;RBBP8:NM_203292:exon8:c.C707T:p.A236V;RBBP8:NM_203291:exon8:c.C707T:p.A236V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.C707T:p.A236V;ENSG00000101773:ENST00000399725:exon8:c.C707T:p.A236V;ENSG00000101773:ENST00000399722:exon8:c.C707T:p.A236V;ENSG00000101773:ENST00000399721:exon8:c.C707T:p.A236V;ENSG00000101773:ENST00000360790:exon8:c.C707T:p.A236V;	0.802411771640633	0.522
18	20564952	C	A	18	22984989	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon8:c.C708A:p.A236A;RBBP8:NM_203292:exon8:c.C708A:p.A236A;RBBP8:NM_203291:exon8:c.C708A:p.A236A;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.C708A:p.A236A;ENSG00000101773:ENST00000399725:exon8:c.C708A:p.A236A;ENSG00000101773:ENST00000399722:exon8:c.C708A:p.A236A;ENSG00000101773:ENST00000399721:exon8:c.C708A:p.A236A;ENSG00000101773:ENST00000360790:exon8:c.C708A:p.A236A;	1.52468484474763E-4	0.116
18	20564952	C	G	18	22984989	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon8:c.C708G:p.A236A;RBBP8:NM_203292:exon8:c.C708G:p.A236A;RBBP8:NM_203291:exon8:c.C708G:p.A236A;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.C708G:p.A236A;ENSG00000101773:ENST00000399725:exon8:c.C708G:p.A236A;ENSG00000101773:ENST00000399722:exon8:c.C708G:p.A236A;ENSG00000101773:ENST00000399721:exon8:c.C708G:p.A236A;ENSG00000101773:ENST00000360790:exon8:c.C708G:p.A236A;	1.54050306199904E-4	0.02
18	20564952	C	T	18	22984989	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon8:c.C708T:p.A236A;RBBP8:NM_203292:exon8:c.C708T:p.A236A;RBBP8:NM_203291:exon8:c.C708T:p.A236A;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.C708T:p.A236A;ENSG00000101773:ENST00000399725:exon8:c.C708T:p.A236A;ENSG00000101773:ENST00000399722:exon8:c.C708T:p.A236A;ENSG00000101773:ENST00000399721:exon8:c.C708T:p.A236A;ENSG00000101773:ENST00000360790:exon8:c.C708T:p.A236A;	0.00118620090506912	0.064
18	20564953	A	C	18	22984990	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.A709C:p.K237Q;RBBP8:NM_203292:exon8:c.A709C:p.K237Q;RBBP8:NM_203291:exon8:c.A709C:p.K237Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.A709C:p.K237Q;ENSG00000101773:ENST00000399725:exon8:c.A709C:p.K237Q;ENSG00000101773:ENST00000399722:exon8:c.A709C:p.K237Q;ENSG00000101773:ENST00000399721:exon8:c.A709C:p.K237Q;ENSG00000101773:ENST00000360790:exon8:c.A709C:p.K237Q;	0.395812823047836	0.53
18	20564953	A	G	18	22984990	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon8:c.A709G:p.K237E;RBBP8:NM_203292:exon8:c.A709G:p.K237E;RBBP8:NM_203291:exon8:c.A709G:p.K237E;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon8:c.A709G:p.K237E;ENSG00000101773:ENST00000399725:exon8:c.A709G:p.K237E;ENSG00000101773:ENST00000399722:exon8:c.A709G:p.K237E;ENSG00000101773:ENST00000399721:exon8:c.A709G:p.K237E;ENSG00000101773:ENST00000360790:exon8:c.A709G:p.K237E;	0.00720255452665538	0.1
18	20564953	A	T	18	22984990	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon8:c.A709T:p.K237X;RBBP8:NM_203292:exon8:c.A709T:p.K237X;RBBP8:NM_203291:exon8:c.A709T:p.K237X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon8:c.A709T:p.K237X;ENSG00000101773:ENST00000399725:exon8:c.A709T:p.K237X;ENSG00000101773:ENST00000399722:exon8:c.A709T:p.K237X;ENSG00000101773:ENST00000399721:exon8:c.A709T:p.K237X;ENSG00000101773:ENST00000360790:exon8:c.A709T:p.K237X;	0.878898870271483	0.608
18	20564954	G	A	18	22984991	y	y	splicing	RBBP8(NM_002894:exon8:c.709+1G>A;NM_203292:exon8:c.709+1G>A;NM_203291:exon8:c.709+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon8:c.709+1G>A;ENST00000399722:exon8:c.709+1G>A;ENST00000399725:exon8:c.709+1G>A;ENST00000399721:exon8:c.709+1G>A;ENST00000360790:exon8:c.709+1G>A;ENST00000577445:exon4:c.425+1G>A;ENST00000585177:exon4:c.418+1G>A)	.	.	0.999990764389106	0.924
18	20564954	G	C	18	22984991	y	y	splicing	RBBP8(NM_002894:exon8:c.709+1G>C;NM_203292:exon8:c.709+1G>C;NM_203291:exon8:c.709+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon8:c.709+1G>C;ENST00000399722:exon8:c.709+1G>C;ENST00000399725:exon8:c.709+1G>C;ENST00000399721:exon8:c.709+1G>C;ENST00000360790:exon8:c.709+1G>C;ENST00000577445:exon4:c.425+1G>C;ENST00000585177:exon4:c.418+1G>C)	.	.	0.999983459627143	0.924
18	20564954	G	T	18	22984991	y	y	splicing	RBBP8(NM_002894:exon8:c.709+1G>T;NM_203292:exon8:c.709+1G>T;NM_203291:exon8:c.709+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon8:c.709+1G>T;ENST00000399722:exon8:c.709+1G>T;ENST00000399725:exon8:c.709+1G>T;ENST00000399721:exon8:c.709+1G>T;ENST00000360790:exon8:c.709+1G>T;ENST00000577445:exon4:c.425+1G>T;ENST00000585177:exon4:c.418+1G>T)	.	.	0.999990764389106	0.924
18	20564955	T	A	18	22984992	y	y	splicing	RBBP8(NM_002894:exon8:c.709+2T>A;NM_203292:exon8:c.709+2T>A;NM_203291:exon8:c.709+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon8:c.709+2T>A;ENST00000399722:exon8:c.709+2T>A;ENST00000399725:exon8:c.709+2T>A;ENST00000399721:exon8:c.709+2T>A;ENST00000360790:exon8:c.709+2T>A;ENST00000577445:exon4:c.425+2T>A;ENST00000585177:exon4:c.418+2T>A)	.	.	0.999994907583848	0.93
18	20564955	T	C	18	22984992	y	y	splicing	RBBP8(NM_002894:exon8:c.709+2T>C;NM_203292:exon8:c.709+2T>C;NM_203291:exon8:c.709+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon8:c.709+2T>C;ENST00000399722:exon8:c.709+2T>C;ENST00000399725:exon8:c.709+2T>C;ENST00000399721:exon8:c.709+2T>C;ENST00000360790:exon8:c.709+2T>C;ENST00000577445:exon4:c.425+2T>C;ENST00000585177:exon4:c.418+2T>C)	.	.	0.999963228278923	0.874
18	20564955	T	G	18	22984992	y	y	splicing	RBBP8(NM_002894:exon8:c.709+2T>G;NM_203292:exon8:c.709+2T>G;NM_203291:exon8:c.709+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon8:c.709+2T>G;ENST00000399722:exon8:c.709+2T>G;ENST00000399725:exon8:c.709+2T>G;ENST00000399721:exon8:c.709+2T>G;ENST00000360790:exon8:c.709+2T>G;ENST00000577445:exon4:c.425+2T>G;ENST00000585177:exon4:c.418+2T>G)	.	.	0.999994907583848	0.93
18	20564956	A	C	18	22984993	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999908450466203	0.976
18	20564956	A	G	18	22984993	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.729744781547792	0.462
18	20564956	A	T	18	22984993	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.99991440781818	0.982
18	20564957	A	C	18	22984994	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.964501297143039	0.598
18	20564957	A	G	18	22984994	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.991491871460495	0.734
18	20564957	A	T	18	22984994	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.995856118474506	0.79
18	20564958	G	A	18	22984995	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999984023803527	0.998
18	20564958	G	C	18	22984995	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999983466518985	0.998
18	20564958	G	T	18	22984995	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999977730649014	0.98
18	20564959	C	A	18	22984996	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00154746508115373	0.208
18	20564959	C	G	18	22984996	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.41021471314601E-4	0.146
18	20564959	C	T	18	22984996	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.71465169379966E-4	0.03
18	20564960	A	C	18	22984997	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0103298934842465	0.056
18	20564960	A	G	18	22984997	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0106707174856119	0.064
18	20564960	A	T	18	22984997	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.017690082200024	0.084
18	20564961	A	C	18	22984998	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00463201880168934	0.046
18	20564961	A	G	18	22984998	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00463201880168934	0.046
18	20564961	A	T	18	22984998	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00644375339149429	0.052
18	20569172	A	C	18	22989209	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.91125882881432E-5	0.002
18	20569172	A	G	18	22989209	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.29625089398363E-5	0.014
18	20569172	A	T	18	22989209	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.94243229939323E-5	0.014
18	20569173	T	A	18	22989210	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.962598031714476	0.752
18	20569173	T	C	18	22989210	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.329586631360697	0.376
18	20569173	T	G	18	22989210	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999928256614896	0.968
18	20569174	T	A	18	22989211	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.279415566726837	0.638
18	20569174	T	C	18	22989211	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00102999943991694	0.016
18	20569174	T	G	18	22989211	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.221462980034318	0.486
18	20569175	T	A	18	22989212	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0664357939373237	0.492
18	20569175	T	C	18	22989212	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.67772936961443E-4	0.114
18	20569175	T	G	18	22989212	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0273097878224851	0.444
18	20569176	A	C	18	22989213	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.63086522433401E-5	0.016
18	20569176	A	G	18	22989213	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.99964096966201E-5	0.006
18	20569176	A	T	18	22989213	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.64359896409224E-5	0.0
18	20569177	T	A	18	22989214	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0121827629529787	0.126
18	20569177	T	C	18	22989214	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.15324193592461E-5	0.014
18	20569177	T	G	18	22989214	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.99997305969162	0.996
18	20569178	T	A	18	22989215	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.261643425011403	0.362
18	20569178	T	C	18	22989215	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.67607066598695E-5	0.064
18	20569178	T	G	18	22989215	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.764472944035239	0.55
18	20569179	C	A	18	22989216	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.32305114939866E-4	0.064
18	20569179	C	G	18	22989216	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00503639683986914	0.168
18	20569179	C	T	18	22989216	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.20205207055138E-5	0.004
18	20569180	T	A	18	22989217	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.72113205803125E-4	0.04
18	20569180	T	C	18	22989217	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.48679655174483E-4	0.034
18	20569180	T	G	18	22989217	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.54041294908893E-4	0.14
18	20569181	T	A	18	22989218	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.344048421061286	0.488
18	20569181	T	C	18	22989218	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.62606384767686E-5	0.028
18	20569181	T	G	18	22989218	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996172064227349	0.652
18	20569182	A	C	18	22989219	y	y	splicing	RBBP8(NM_002894:exon9:c.710-2A>C;NM_203292:exon9:c.710-2A>C;NM_203291:exon9:c.710-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.710-2A>C;ENST00000399722:exon9:c.710-2A>C;ENST00000399725:exon9:c.710-2A>C;ENST00000399721:exon9:c.710-2A>C;ENST00000360790:exon9:c.710-2A>C;ENST00000585177:exon5:c.419-2A>C)	.	.	0.999972871252391	0.876
18	20569182	A	G	18	22989219	y	y	splicing	RBBP8(NM_002894:exon9:c.710-2A>G;NM_203292:exon9:c.710-2A>G;NM_203291:exon9:c.710-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.710-2A>G;ENST00000399722:exon9:c.710-2A>G;ENST00000399725:exon9:c.710-2A>G;ENST00000399721:exon9:c.710-2A>G;ENST00000360790:exon9:c.710-2A>G;ENST00000585177:exon5:c.419-2A>G)	.	.	0.999972871252391	0.872
18	20569182	A	T	18	22989219	y	y	splicing	RBBP8(NM_002894:exon9:c.710-2A>T;NM_203292:exon9:c.710-2A>T;NM_203291:exon9:c.710-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.710-2A>T;ENST00000399722:exon9:c.710-2A>T;ENST00000399725:exon9:c.710-2A>T;ENST00000399721:exon9:c.710-2A>T;ENST00000360790:exon9:c.710-2A>T;ENST00000585177:exon5:c.419-2A>T)	.	.	0.999982151912279	0.884
18	20569183	G	A	18	22989220	y	y	splicing	RBBP8(NM_002894:exon9:c.710-1G>A;NM_203292:exon9:c.710-1G>A;NM_203291:exon9:c.710-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.710-1G>A;ENST00000399722:exon9:c.710-1G>A;ENST00000399725:exon9:c.710-1G>A;ENST00000399721:exon9:c.710-1G>A;ENST00000360790:exon9:c.710-1G>A;ENST00000585177:exon5:c.419-1G>A)	.	.	0.999938990645747	0.946
18	20569183	G	C	18	22989220	y	y	splicing	RBBP8(NM_002894:exon9:c.710-1G>C;NM_203292:exon9:c.710-1G>C;NM_203291:exon9:c.710-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.710-1G>C;ENST00000399722:exon9:c.710-1G>C;ENST00000399725:exon9:c.710-1G>C;ENST00000399721:exon9:c.710-1G>C;ENST00000360790:exon9:c.710-1G>C;ENST00000585177:exon5:c.419-1G>C)	.	.	0.999938990645747	0.922
18	20569183	G	T	18	22989220	y	y	splicing	RBBP8(NM_002894:exon9:c.710-1G>T;NM_203292:exon9:c.710-1G>T;NM_203291:exon9:c.710-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.710-1G>T;ENST00000399722:exon9:c.710-1G>T;ENST00000399725:exon9:c.710-1G>T;ENST00000399721:exon9:c.710-1G>T;ENST00000360790:exon9:c.710-1G>T;ENST00000585177:exon5:c.419-1G>T)	.	.	0.999938990645747	0.946
18	20569184	A	C	18	22989221	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.A710C:p.K237T;RBBP8:NM_203292:exon9:c.A710C:p.K237T;RBBP8:NM_203291:exon9:c.A710C:p.K237T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.A710C:p.K237T;ENSG00000101773:ENST00000399725:exon9:c.A710C:p.K237T;ENSG00000101773:ENST00000399722:exon9:c.A710C:p.K237T;ENSG00000101773:ENST00000399721:exon9:c.A710C:p.K237T;ENSG00000101773:ENST00000360790:exon9:c.A710C:p.K237T;	0.128812935091074	0.218
18	20569184	A	G	18	22989221	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.A710G:p.K237R;RBBP8:NM_203292:exon9:c.A710G:p.K237R;RBBP8:NM_203291:exon9:c.A710G:p.K237R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.A710G:p.K237R;ENSG00000101773:ENST00000399725:exon9:c.A710G:p.K237R;ENSG00000101773:ENST00000399722:exon9:c.A710G:p.K237R;ENSG00000101773:ENST00000399721:exon9:c.A710G:p.K237R;ENSG00000101773:ENST00000360790:exon9:c.A710G:p.K237R;	0.00123544755895308	0.022
18	20569184	A	T	18	22989221	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.A710T:p.K237I;RBBP8:NM_203292:exon9:c.A710T:p.K237I;RBBP8:NM_203291:exon9:c.A710T:p.K237I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.A710T:p.K237I;ENSG00000101773:ENST00000399725:exon9:c.A710T:p.K237I;ENSG00000101773:ENST00000399722:exon9:c.A710T:p.K237I;ENSG00000101773:ENST00000399721:exon9:c.A710T:p.K237I;ENSG00000101773:ENST00000360790:exon9:c.A710T:p.K237I;	0.222408782754977	0.238
18	20569185	A	C	18	22989222	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.A711C:p.K237N;RBBP8:NM_203292:exon9:c.A711C:p.K237N;RBBP8:NM_203291:exon9:c.A711C:p.K237N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.A711C:p.K237N;ENSG00000101773:ENST00000399725:exon9:c.A711C:p.K237N;ENSG00000101773:ENST00000399722:exon9:c.A711C:p.K237N;ENSG00000101773:ENST00000399721:exon9:c.A711C:p.K237N;ENSG00000101773:ENST00000360790:exon9:c.A711C:p.K237N;	2.43758376842607E-4	0.006
18	20569185	A	G	18	22989222	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon9:c.A711G:p.K237K;RBBP8:NM_203292:exon9:c.A711G:p.K237K;RBBP8:NM_203291:exon9:c.A711G:p.K237K;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.A711G:p.K237K;ENSG00000101773:ENST00000399725:exon9:c.A711G:p.K237K;ENSG00000101773:ENST00000399722:exon9:c.A711G:p.K237K;ENSG00000101773:ENST00000399721:exon9:c.A711G:p.K237K;ENSG00000101773:ENST00000360790:exon9:c.A711G:p.K237K;	1.93756334504356E-4	0.006
18	20569185	A	T	18	22989222	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.A711T:p.K237N;RBBP8:NM_203292:exon9:c.A711T:p.K237N;RBBP8:NM_203291:exon9:c.A711T:p.K237N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.A711T:p.K237N;ENSG00000101773:ENST00000399725:exon9:c.A711T:p.K237N;ENSG00000101773:ENST00000399722:exon9:c.A711T:p.K237N;ENSG00000101773:ENST00000399721:exon9:c.A711T:p.K237N;ENSG00000101773:ENST00000360790:exon9:c.A711T:p.K237N;	2.61430487832261E-4	0.04
18	20569279	T	A	18	22989316	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.T805A:p.S269T;RBBP8:NM_203292:exon9:c.T805A:p.S269T;RBBP8:NM_203291:exon9:c.T805A:p.S269T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.T805A:p.S269T;ENSG00000101773:ENST00000399725:exon9:c.T805A:p.S269T;ENSG00000101773:ENST00000399722:exon9:c.T805A:p.S269T;ENSG00000101773:ENST00000399721:exon9:c.T805A:p.S269T;ENSG00000101773:ENST00000360790:exon9:c.T805A:p.S269T;	0.511898996267789	0.706
18	20569279	T	C	18	22989316	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.T805C:p.S269P;RBBP8:NM_203292:exon9:c.T805C:p.S269P;RBBP8:NM_203291:exon9:c.T805C:p.S269P;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.T805C:p.S269P;ENSG00000101773:ENST00000399725:exon9:c.T805C:p.S269P;ENSG00000101773:ENST00000399722:exon9:c.T805C:p.S269P;ENSG00000101773:ENST00000399721:exon9:c.T805C:p.S269P;ENSG00000101773:ENST00000360790:exon9:c.T805C:p.S269P;	0.651670055348968	0.668
18	20569279	T	G	18	22989316	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.T805G:p.S269A;RBBP8:NM_203292:exon9:c.T805G:p.S269A;RBBP8:NM_203291:exon9:c.T805G:p.S269A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.T805G:p.S269A;ENSG00000101773:ENST00000399725:exon9:c.T805G:p.S269A;ENSG00000101773:ENST00000399722:exon9:c.T805G:p.S269A;ENSG00000101773:ENST00000399721:exon9:c.T805G:p.S269A;ENSG00000101773:ENST00000360790:exon9:c.T805G:p.S269A;	0.619051823261095	0.77
18	20569280	C	A	18	22989317	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.C806A:p.S269Y;RBBP8:NM_203292:exon9:c.C806A:p.S269Y;RBBP8:NM_203291:exon9:c.C806A:p.S269Y;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.C806A:p.S269Y;ENSG00000101773:ENST00000399725:exon9:c.C806A:p.S269Y;ENSG00000101773:ENST00000399722:exon9:c.C806A:p.S269Y;ENSG00000101773:ENST00000399721:exon9:c.C806A:p.S269Y;ENSG00000101773:ENST00000360790:exon9:c.C806A:p.S269Y;	0.966668249811103	0.708
18	20569280	C	G	18	22989317	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.C806G:p.S269C;RBBP8:NM_203292:exon9:c.C806G:p.S269C;RBBP8:NM_203291:exon9:c.C806G:p.S269C;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.C806G:p.S269C;ENSG00000101773:ENST00000399725:exon9:c.C806G:p.S269C;ENSG00000101773:ENST00000399722:exon9:c.C806G:p.S269C;ENSG00000101773:ENST00000399721:exon9:c.C806G:p.S269C;ENSG00000101773:ENST00000360790:exon9:c.C806G:p.S269C;	0.988365882158552	0.902
18	20569280	C	T	18	22989317	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon9:c.C806T:p.S269F;RBBP8:NM_203292:exon9:c.C806T:p.S269F;RBBP8:NM_203291:exon9:c.C806T:p.S269F;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.C806T:p.S269F;ENSG00000101773:ENST00000399725:exon9:c.C806T:p.S269F;ENSG00000101773:ENST00000399722:exon9:c.C806T:p.S269F;ENSG00000101773:ENST00000399721:exon9:c.C806T:p.S269F;ENSG00000101773:ENST00000360790:exon9:c.C806T:p.S269F;	0.991644644654089	0.914
18	20569281	T	A	18	22989318	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon9:c.T807A:p.S269S;RBBP8:NM_203292:exon9:c.T807A:p.S269S;RBBP8:NM_203291:exon9:c.T807A:p.S269S;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.T807A:p.S269S;ENSG00000101773:ENST00000399725:exon9:c.T807A:p.S269S;ENSG00000101773:ENST00000399722:exon9:c.T807A:p.S269S;ENSG00000101773:ENST00000399721:exon9:c.T807A:p.S269S;ENSG00000101773:ENST00000360790:exon9:c.T807A:p.S269S;	0.055054513927918	0.22
18	20569281	T	C	18	22989318	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon9:c.T807C:p.S269S;RBBP8:NM_203292:exon9:c.T807C:p.S269S;RBBP8:NM_203291:exon9:c.T807C:p.S269S;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.T807C:p.S269S;ENSG00000101773:ENST00000399725:exon9:c.T807C:p.S269S;ENSG00000101773:ENST00000399722:exon9:c.T807C:p.S269S;ENSG00000101773:ENST00000399721:exon9:c.T807C:p.S269S;ENSG00000101773:ENST00000360790:exon9:c.T807C:p.S269S;	0.123463827707581	0.492
18	20569281	T	G	18	22989318	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon9:c.T807G:p.S269S;RBBP8:NM_203292:exon9:c.T807G:p.S269S;RBBP8:NM_203291:exon9:c.T807G:p.S269S;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon9:c.T807G:p.S269S;ENSG00000101773:ENST00000399725:exon9:c.T807G:p.S269S;ENSG00000101773:ENST00000399722:exon9:c.T807G:p.S269S;ENSG00000101773:ENST00000399721:exon9:c.T807G:p.S269S;ENSG00000101773:ENST00000360790:exon9:c.T807G:p.S269S;	0.0014747995194007	0.054
18	20569282	G	A	18	22989319	y	y	splicing	RBBP8(NM_002894:exon9:c.807+1G>A;NM_203292:exon9:c.807+1G>A;NM_203291:exon9:c.807+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.807+1G>A;ENST00000399722:exon9:c.807+1G>A;ENST00000399725:exon9:c.807+1G>A;ENST00000399721:exon9:c.807+1G>A;ENST00000360790:exon9:c.807+1G>A;ENST00000577445:exon5:c.472+1G>A;ENST00000585177:exon5:c.516+1G>A)	.	.	0.999986675681007	0.934
18	20569282	G	C	18	22989319	y	y	splicing	RBBP8(NM_002894:exon9:c.807+1G>C;NM_203292:exon9:c.807+1G>C;NM_203291:exon9:c.807+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.807+1G>C;ENST00000399722:exon9:c.807+1G>C;ENST00000399725:exon9:c.807+1G>C;ENST00000399721:exon9:c.807+1G>C;ENST00000360790:exon9:c.807+1G>C;ENST00000577445:exon5:c.472+1G>C;ENST00000585177:exon5:c.516+1G>C)	.	.	0.999986675681007	0.934
18	20569282	G	T	18	22989319	y	y	splicing	RBBP8(NM_002894:exon9:c.807+1G>T;NM_203292:exon9:c.807+1G>T;NM_203291:exon9:c.807+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.807+1G>T;ENST00000399722:exon9:c.807+1G>T;ENST00000399725:exon9:c.807+1G>T;ENST00000399721:exon9:c.807+1G>T;ENST00000360790:exon9:c.807+1G>T;ENST00000577445:exon5:c.472+1G>T;ENST00000585177:exon5:c.516+1G>T)	.	.	0.999986675681007	0.934
18	20569283	T	A	18	22989320	y	y	splicing	RBBP8(NM_002894:exon9:c.807+2T>A;NM_203292:exon9:c.807+2T>A;NM_203291:exon9:c.807+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.807+2T>A;ENST00000399722:exon9:c.807+2T>A;ENST00000399725:exon9:c.807+2T>A;ENST00000399721:exon9:c.807+2T>A;ENST00000360790:exon9:c.807+2T>A;ENST00000577445:exon5:c.472+2T>A;ENST00000585177:exon5:c.516+2T>A)	.	.	0.999989917668626	0.926
18	20569283	T	C	18	22989320	y	y	splicing	RBBP8(NM_002894:exon9:c.807+2T>C;NM_203292:exon9:c.807+2T>C;NM_203291:exon9:c.807+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.807+2T>C;ENST00000399722:exon9:c.807+2T>C;ENST00000399725:exon9:c.807+2T>C;ENST00000399721:exon9:c.807+2T>C;ENST00000360790:exon9:c.807+2T>C;ENST00000577445:exon5:c.472+2T>C;ENST00000585177:exon5:c.516+2T>C)	.	.	0.998006021521031	0.738
18	20569283	T	G	18	22989320	y	y	splicing	RBBP8(NM_002894:exon9:c.807+2T>G;NM_203292:exon9:c.807+2T>G;NM_203291:exon9:c.807+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon9:c.807+2T>G;ENST00000399722:exon9:c.807+2T>G;ENST00000399725:exon9:c.807+2T>G;ENST00000399721:exon9:c.807+2T>G;ENST00000360790:exon9:c.807+2T>G;ENST00000577445:exon5:c.472+2T>G;ENST00000585177:exon5:c.516+2T>G)	.	.	0.999989917668626	0.926
18	20569284	A	C	18	22989321	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999805864577396	0.936
18	20569284	A	G	18	22989321	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0277904134172889	0.232
18	20569284	A	T	18	22989321	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999859849363976	0.958
18	20569285	A	C	18	22989322	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998527776303853	0.914
18	20569285	A	G	18	22989322	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999340341303554	0.968
18	20569285	A	T	18	22989322	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996113429635862	0.924
18	20569286	G	A	18	22989323	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999967018685523	0.992
18	20569286	G	C	18	22989323	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999979669128783	0.986
18	20569286	G	T	18	22989323	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999971660680869	0.998
18	20569287	T	A	18	22989324	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.938602233501457	0.742
18	20569287	T	C	18	22989324	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.970330600954456	0.864
18	20569287	T	G	18	22989324	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.949176764523258	0.784
18	20569288	A	C	18	22989325	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00108793266462052	0.01
18	20569288	A	G	18	22989325	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00108793266462052	0.006
18	20569288	A	T	18	22989325	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0013987466332197	0.002
18	20569289	A	C	18	22989326	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.62349760219084E-4	0.01
18	20569289	A	G	18	22989326	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.62349760219084E-4	0.01
18	20569289	A	T	18	22989326	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.62349760219084E-4	0.01
18	20570888	T	A	18	22990925	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.724100185795768	0.556
18	20570888	T	C	18	22990925	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0384777334865699	0.332
18	20570888	T	G	18	22990925	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.496885090115405	0.484
18	20570889	T	A	18	22990926	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0106308682746336	0.28
18	20570889	T	C	18	22990926	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00190803529078614	0.106
18	20570889	T	G	18	22990926	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00686688716779074	0.226
18	20570890	A	C	18	22990927	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.84797649863766E-4	0.076
18	20570890	A	G	18	22990927	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.71174461373811E-4	0.002
18	20570890	A	T	18	22990927	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.42741256712821E-4	0.008
18	20570891	C	A	18	22990928	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00502482937520782	0.076
18	20570891	C	G	18	22990928	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999950839315029	0.98
18	20570891	C	T	18	22990928	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.3131381742257E-4	0.018
18	20570892	T	A	18	22990929	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00102438185295242	0.102
18	20570892	T	C	18	22990929	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.00731805660864E-4	0.012
18	20570892	T	G	18	22990929	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00184464692205033	0.164
18	20570893	C	A	18	22990930	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.62599569897996E-4	0.022
18	20570893	C	G	18	22990930	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.36818206125986E-4	0.026
18	20570893	C	T	18	22990930	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.24348713427988E-5	0.0
18	20570894	T	A	18	22990931	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00525613346758791	0.148
18	20570894	T	C	18	22990931	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.27978938965544E-4	0.022
18	20570894	T	G	18	22990931	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00416014441936947	0.142
18	20570895	T	A	18	22990932	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999894856505133	0.972
18	20570895	T	C	18	22990932	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0248699065133755	0.114
18	20570895	T	G	18	22990932	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.31540062923546	0.428
18	20570896	G	A	18	22990933	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.99191962093908E-4	0.006
18	20570896	G	C	18	22990933	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.26293895626408E-4	0.006
18	20570896	G	T	18	22990933	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.97999592497746E-4	0.026
18	20570897	A	C	18	22990934	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00594418126824248	0.134
18	20570897	A	G	18	22990934	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.874846136793776	0.588
18	20570897	A	T	18	22990934	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0129584283642809	0.264
18	20570898	A	C	18	22990935	y	y	splicing	RBBP8(NM_002894:exon10:c.808-2A>C;NM_203292:exon10:c.808-2A>C;NM_203291:exon10:c.808-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.808-2A>C;ENST00000399722:exon10:c.808-2A>C;ENST00000399725:exon10:c.808-2A>C;ENST00000399721:exon10:c.808-2A>C;ENST00000360790:exon10:c.808-2A>C;ENST00000577445:exon6:c.473-2A>C;ENST00000585177:exon6:c.517-2A>C)	.	.	0.999986741007567	0.93
18	20570898	A	G	18	22990935	y	y	splicing	RBBP8(NM_002894:exon10:c.808-2A>G;NM_203292:exon10:c.808-2A>G;NM_203291:exon10:c.808-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.808-2A>G;ENST00000399722:exon10:c.808-2A>G;ENST00000399725:exon10:c.808-2A>G;ENST00000399721:exon10:c.808-2A>G;ENST00000360790:exon10:c.808-2A>G;ENST00000577445:exon6:c.473-2A>G;ENST00000585177:exon6:c.517-2A>G)	.	.	0.999986741007567	0.93
18	20570898	A	T	18	22990935	y	y	splicing	RBBP8(NM_002894:exon10:c.808-2A>T;NM_203292:exon10:c.808-2A>T;NM_203291:exon10:c.808-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.808-2A>T;ENST00000399722:exon10:c.808-2A>T;ENST00000399725:exon10:c.808-2A>T;ENST00000399721:exon10:c.808-2A>T;ENST00000360790:exon10:c.808-2A>T;ENST00000577445:exon6:c.473-2A>T;ENST00000585177:exon6:c.517-2A>T)	.	.	0.999986741007567	0.936
18	20570899	G	A	18	22990936	y	y	splicing	RBBP8(NM_002894:exon10:c.808-1G>A;NM_203292:exon10:c.808-1G>A;NM_203291:exon10:c.808-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.808-1G>A;ENST00000399722:exon10:c.808-1G>A;ENST00000399725:exon10:c.808-1G>A;ENST00000399721:exon10:c.808-1G>A;ENST00000360790:exon10:c.808-1G>A;ENST00000577445:exon6:c.473-1G>A;ENST00000585177:exon6:c.517-1G>A)	.	.	0.999987670894945	0.94
18	20570899	G	C	18	22990936	y	y	splicing	RBBP8(NM_002894:exon10:c.808-1G>C;NM_203292:exon10:c.808-1G>C;NM_203291:exon10:c.808-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.808-1G>C;ENST00000399722:exon10:c.808-1G>C;ENST00000399725:exon10:c.808-1G>C;ENST00000399721:exon10:c.808-1G>C;ENST00000360790:exon10:c.808-1G>C;ENST00000577445:exon6:c.473-1G>C;ENST00000585177:exon6:c.517-1G>C)	.	.	0.999987670894945	0.94
18	20570899	G	T	18	22990936	y	y	splicing	RBBP8(NM_002894:exon10:c.808-1G>T;NM_203292:exon10:c.808-1G>T;NM_203291:exon10:c.808-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.808-1G>T;ENST00000399722:exon10:c.808-1G>T;ENST00000399725:exon10:c.808-1G>T;ENST00000399721:exon10:c.808-1G>T;ENST00000360790:exon10:c.808-1G>T;ENST00000577445:exon6:c.473-1G>T;ENST00000585177:exon6:c.517-1G>T)	.	.	0.999987670894945	0.94
18	20570900	G	A	18	22990937	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.G808A:p.E270K;RBBP8:NM_203292:exon10:c.G808A:p.E270K;RBBP8:NM_203291:exon10:c.G808A:p.E270K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.G808A:p.E270K;ENSG00000101773:ENST00000399725:exon10:c.G808A:p.E270K;ENSG00000101773:ENST00000399722:exon10:c.G808A:p.E270K;ENSG00000101773:ENST00000399721:exon10:c.G808A:p.E270K;ENSG00000101773:ENST00000360790:exon10:c.G808A:p.E270K;	0.999701956960296	0.876
18	20570900	G	C	18	22990937	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.G808C:p.E270Q;RBBP8:NM_203292:exon10:c.G808C:p.E270Q;RBBP8:NM_203291:exon10:c.G808C:p.E270Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.G808C:p.E270Q;ENSG00000101773:ENST00000399725:exon10:c.G808C:p.E270Q;ENSG00000101773:ENST00000399722:exon10:c.G808C:p.E270Q;ENSG00000101773:ENST00000399721:exon10:c.G808C:p.E270Q;ENSG00000101773:ENST00000360790:exon10:c.G808C:p.E270Q;	0.999230565535204	0.958
18	20570900	G	T	18	22990937	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon10:c.G808T:p.E270X;RBBP8:NM_203292:exon10:c.G808T:p.E270X;RBBP8:NM_203291:exon10:c.G808T:p.E270X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon10:c.G808T:p.E270X;ENSG00000101773:ENST00000399725:exon10:c.G808T:p.E270X;ENSG00000101773:ENST00000399722:exon10:c.G808T:p.E270X;ENSG00000101773:ENST00000399721:exon10:c.G808T:p.E270X;ENSG00000101773:ENST00000360790:exon10:c.G808T:p.E270X;	0.999961461746532	0.974
18	20570901	A	C	18	22990938	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.A809C:p.E270A;RBBP8:NM_203292:exon10:c.A809C:p.E270A;RBBP8:NM_203291:exon10:c.A809C:p.E270A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.A809C:p.E270A;ENSG00000101773:ENST00000399725:exon10:c.A809C:p.E270A;ENSG00000101773:ENST00000399722:exon10:c.A809C:p.E270A;ENSG00000101773:ENST00000399721:exon10:c.A809C:p.E270A;ENSG00000101773:ENST00000360790:exon10:c.A809C:p.E270A;	0.922104353849536	0.728
18	20570901	A	G	18	22990938	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.A809G:p.E270G;RBBP8:NM_203292:exon10:c.A809G:p.E270G;RBBP8:NM_203291:exon10:c.A809G:p.E270G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.A809G:p.E270G;ENSG00000101773:ENST00000399725:exon10:c.A809G:p.E270G;ENSG00000101773:ENST00000399722:exon10:c.A809G:p.E270G;ENSG00000101773:ENST00000399721:exon10:c.A809G:p.E270G;ENSG00000101773:ENST00000360790:exon10:c.A809G:p.E270G;	0.90106913501454	0.636
18	20570901	A	T	18	22990938	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.A809T:p.E270V;RBBP8:NM_203292:exon10:c.A809T:p.E270V;RBBP8:NM_203291:exon10:c.A809T:p.E270V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.A809T:p.E270V;ENSG00000101773:ENST00000399725:exon10:c.A809T:p.E270V;ENSG00000101773:ENST00000399722:exon10:c.A809T:p.E270V;ENSG00000101773:ENST00000399721:exon10:c.A809T:p.E270V;ENSG00000101773:ENST00000360790:exon10:c.A809T:p.E270V;	0.857963631207944	0.672
18	20571010	A	C	18	22991047	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.A918C:p.L306F;RBBP8:NM_203292:exon10:c.A918C:p.L306F;RBBP8:NM_203291:exon10:c.A918C:p.L306F;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.A918C:p.L306F;ENSG00000101773:ENST00000399725:exon10:c.A918C:p.L306F;ENSG00000101773:ENST00000399722:exon10:c.A918C:p.L306F;ENSG00000101773:ENST00000399721:exon10:c.A918C:p.L306F;ENSG00000101773:ENST00000360790:exon10:c.A918C:p.L306F;	0.0514237267377486	0.3
18	20571010	A	G	18	22991047	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon10:c.A918G:p.L306L;RBBP8:NM_203292:exon10:c.A918G:p.L306L;RBBP8:NM_203291:exon10:c.A918G:p.L306L;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.A918G:p.L306L;ENSG00000101773:ENST00000399725:exon10:c.A918G:p.L306L;ENSG00000101773:ENST00000399722:exon10:c.A918G:p.L306L;ENSG00000101773:ENST00000399721:exon10:c.A918G:p.L306L;ENSG00000101773:ENST00000360790:exon10:c.A918G:p.L306L;	6.56955610735846E-4	0.054
18	20571010	A	T	18	22991047	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.A918T:p.L306F;RBBP8:NM_203292:exon10:c.A918T:p.L306F;RBBP8:NM_203291:exon10:c.A918T:p.L306F;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.A918T:p.L306F;ENSG00000101773:ENST00000399725:exon10:c.A918T:p.L306F;ENSG00000101773:ENST00000399722:exon10:c.A918T:p.L306F;ENSG00000101773:ENST00000399721:exon10:c.A918T:p.L306F;ENSG00000101773:ENST00000360790:exon10:c.A918T:p.L306F;	0.881641930851875	0.582
18	20571011	A	C	18	22991048	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon10:c.A919C:p.R307R;RBBP8:NM_203292:exon10:c.A919C:p.R307R;RBBP8:NM_203291:exon10:c.A919C:p.R307R;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.A919C:p.R307R;ENSG00000101773:ENST00000399725:exon10:c.A919C:p.R307R;ENSG00000101773:ENST00000399722:exon10:c.A919C:p.R307R;ENSG00000101773:ENST00000399721:exon10:c.A919C:p.R307R;ENSG00000101773:ENST00000360790:exon10:c.A919C:p.R307R;	0.301163931374095	0.56
18	20571011	A	G	18	22991048	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.A919G:p.R307G;RBBP8:NM_203292:exon10:c.A919G:p.R307G;RBBP8:NM_203291:exon10:c.A919G:p.R307G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.A919G:p.R307G;ENSG00000101773:ENST00000399725:exon10:c.A919G:p.R307G;ENSG00000101773:ENST00000399722:exon10:c.A919G:p.R307G;ENSG00000101773:ENST00000399721:exon10:c.A919G:p.R307G;ENSG00000101773:ENST00000360790:exon10:c.A919G:p.R307G;	0.796397092338086	0.618
18	20571011	A	T	18	22991048	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon10:c.A919T:p.R307X;RBBP8:NM_203292:exon10:c.A919T:p.R307X;RBBP8:NM_203291:exon10:c.A919T:p.R307X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon10:c.A919T:p.R307X;ENSG00000101773:ENST00000399725:exon10:c.A919T:p.R307X;ENSG00000101773:ENST00000399722:exon10:c.A919T:p.R307X;ENSG00000101773:ENST00000399721:exon10:c.A919T:p.R307X;ENSG00000101773:ENST00000360790:exon10:c.A919T:p.R307X;	0.998808390129858	0.828
18	20571012	G	A	18	22991049	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.G920A:p.R307K;RBBP8:NM_203292:exon10:c.G920A:p.R307K;RBBP8:NM_203291:exon10:c.G920A:p.R307K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.G920A:p.R307K;ENSG00000101773:ENST00000399725:exon10:c.G920A:p.R307K;ENSG00000101773:ENST00000399722:exon10:c.G920A:p.R307K;ENSG00000101773:ENST00000399721:exon10:c.G920A:p.R307K;ENSG00000101773:ENST00000360790:exon10:c.G920A:p.R307K;	0.999958999199037	0.99
18	20571012	G	C	18	22991049	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.G920C:p.R307T;RBBP8:NM_203292:exon10:c.G920C:p.R307T;RBBP8:NM_203291:exon10:c.G920C:p.R307T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.G920C:p.R307T;ENSG00000101773:ENST00000399725:exon10:c.G920C:p.R307T;ENSG00000101773:ENST00000399722:exon10:c.G920C:p.R307T;ENSG00000101773:ENST00000399721:exon10:c.G920C:p.R307T;ENSG00000101773:ENST00000360790:exon10:c.G920C:p.R307T;	0.999985087341541	0.996
18	20571012	G	T	18	22991049	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon10:c.G920T:p.R307I;RBBP8:NM_203292:exon10:c.G920T:p.R307I;RBBP8:NM_203291:exon10:c.G920T:p.R307I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon10:c.G920T:p.R307I;ENSG00000101773:ENST00000399725:exon10:c.G920T:p.R307I;ENSG00000101773:ENST00000399722:exon10:c.G920T:p.R307I;ENSG00000101773:ENST00000399721:exon10:c.G920T:p.R307I;ENSG00000101773:ENST00000360790:exon10:c.G920T:p.R307I;	0.999949683993791	0.97
18	20571013	G	A	18	22991050	y	y	splicing	RBBP8(NM_002894:exon10:c.920+1G>A;NM_203292:exon10:c.920+1G>A;NM_203291:exon10:c.920+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.920+1G>A;ENST00000399722:exon10:c.920+1G>A;ENST00000399725:exon10:c.920+1G>A;ENST00000399721:exon10:c.920+1G>A;ENST00000360790:exon10:c.920+1G>A)	.	.	0.99995586615188	0.948
18	20571013	G	C	18	22991050	y	y	splicing	RBBP8(NM_002894:exon10:c.920+1G>C;NM_203292:exon10:c.920+1G>C;NM_203291:exon10:c.920+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.920+1G>C;ENST00000399722:exon10:c.920+1G>C;ENST00000399725:exon10:c.920+1G>C;ENST00000399721:exon10:c.920+1G>C;ENST00000360790:exon10:c.920+1G>C)	.	.	0.99995586615188	0.94
18	20571013	G	T	18	22991050	y	y	splicing	RBBP8(NM_002894:exon10:c.920+1G>T;NM_203292:exon10:c.920+1G>T;NM_203291:exon10:c.920+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.920+1G>T;ENST00000399722:exon10:c.920+1G>T;ENST00000399725:exon10:c.920+1G>T;ENST00000399721:exon10:c.920+1G>T;ENST00000360790:exon10:c.920+1G>T)	.	.	0.99995586615188	0.94
18	20571014	T	A	18	22991051	y	y	splicing	RBBP8(NM_002894:exon10:c.920+2T>A;NM_203292:exon10:c.920+2T>A;NM_203291:exon10:c.920+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.920+2T>A;ENST00000399722:exon10:c.920+2T>A;ENST00000399725:exon10:c.920+2T>A;ENST00000399721:exon10:c.920+2T>A;ENST00000360790:exon10:c.920+2T>A)	.	.	0.999946188727699	0.948
18	20571014	T	C	18	22991051	y	y	splicing	RBBP8(NM_002894:exon10:c.920+2T>C;NM_203292:exon10:c.920+2T>C;NM_203291:exon10:c.920+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.920+2T>C;ENST00000399722:exon10:c.920+2T>C;ENST00000399725:exon10:c.920+2T>C;ENST00000399721:exon10:c.920+2T>C;ENST00000360790:exon10:c.920+2T>C)	.	.	0.95755789858141	0.686
18	20571014	T	G	18	22991051	y	y	splicing	RBBP8(NM_002894:exon10:c.920+2T>G;NM_203292:exon10:c.920+2T>G;NM_203291:exon10:c.920+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon10:c.920+2T>G;ENST00000399722:exon10:c.920+2T>G;ENST00000399725:exon10:c.920+2T>G;ENST00000399721:exon10:c.920+2T>G;ENST00000360790:exon10:c.920+2T>G)	.	.	0.999946188727699	0.932
18	20571015	A	C	18	22991052	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998423980503318	0.868
18	20571015	A	G	18	22991052	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.93365695203431	0.582
18	20571015	A	T	18	22991052	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.99916427137765	0.828
18	20571016	A	C	18	22991053	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.262628630733252	0.406
18	20571016	A	G	18	22991053	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.548174160004984	0.55
18	20571016	A	T	18	22991053	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.12403866215714	0.398
18	20571017	T	A	18	22991054	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.82026554163371E-5	0.006
18	20571017	T	C	18	22991054	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.63872132373266E-5	0.004
18	20571017	T	G	18	22991054	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.44349629261312E-5	0.062
18	20571018	T	A	18	22991055	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.19429648647479E-4	0.09
18	20571018	T	C	18	22991055	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00145435154828087	0.09
18	20571018	T	G	18	22991055	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.67767259015399E-4	0.066
18	20571019	A	C	18	22991056	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.21557472225283E-5	0.0
18	20571019	A	G	18	22991056	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.57530626779289E-5	0.0
18	20571019	A	T	18	22991056	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.08680032328326E-5	0.002
18	20571020	A	C	18	22991057	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.78253972863178E-5	0.0
18	20571020	A	G	18	22991057	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.06489853766475E-5	0.006
18	20571020	A	T	18	22991057	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.78253972863178E-5	0.0
18	20572699	C	A	18	22992736	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.25937952970107E-4	0.022
18	20572699	C	G	18	22992736	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.843700811390777	0.524
18	20572699	C	T	18	22992736	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.47607259891041E-5	0.034
18	20572700	T	A	18	22992737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.381761367429692	0.478
18	20572700	T	C	18	22992737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00575762923316747	0.296
18	20572700	T	G	18	22992737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.201858403969484	0.528
18	20572701	C	A	18	22992738	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.02393220458915E-4	0.06
18	20572701	C	G	18	22992738	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.35090510353094E-4	0.122
18	20572701	C	T	18	22992738	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.4121743765362E-5	0.01
18	20572702	T	A	18	22992739	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.121209781392062	0.448
18	20572702	T	C	18	22992739	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.32318424684202E-4	0.03
18	20572702	T	G	18	22992739	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.05592627636596	0.43
18	20572703	T	A	18	22992740	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0146768160143454	0.248
18	20572703	T	C	18	22992740	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.92943604140958E-5	0.024
18	20572703	T	G	18	22992740	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.56765024164266E-4	0.26
18	20572704	T	A	18	22992741	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0221286441615545	0.172
18	20572704	T	C	18	22992741	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.18354733883104E-4	0.016
18	20572704	T	G	18	22992741	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0121562026980982	0.174
18	20572705	A	C	18	22992742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.06073327844333E-4	0.008
18	20572705	A	G	18	22992742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.75731099609799E-4	0.002
18	20572705	A	T	18	22992742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.06552182644812E-4	0.006
18	20572706	T	A	18	22992743	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.126100815364721	0.502
18	20572706	T	C	18	22992743	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.99060835393792E-4	0.086
18	20572706	T	G	18	22992743	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999879093080464	0.95
18	20572707	T	A	18	22992744	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.01062267238408E-4	0.03
18	20572707	T	C	18	22992744	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.38710481109763E-4	0.026
18	20572707	T	G	18	22992744	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.91499145766658E-4	0.056
18	20572708	T	A	18	22992745	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0239404078208889	0.392
18	20572708	T	C	18	22992745	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.35511265111356E-5	0.02
18	20572708	T	G	18	22992745	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998209069808097	0.724
18	20572709	A	C	18	22992746	y	y	splicing	RBBP8(NM_002894:exon11:c.921-2A>C;NM_203292:exon11:c.921-2A>C;NM_203291:exon11:c.921-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.921-2A>C;ENST00000399722:exon11:c.921-2A>C;ENST00000399725:exon11:c.921-2A>C;ENST00000399721:exon11:c.921-2A>C;ENST00000360790:exon11:c.921-2A>C)	.	.	0.99994568797423	0.962
18	20572709	A	G	18	22992746	y	y	splicing	RBBP8(NM_002894:exon11:c.921-2A>G;NM_203292:exon11:c.921-2A>G;NM_203291:exon11:c.921-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.921-2A>G;ENST00000399722:exon11:c.921-2A>G;ENST00000399725:exon11:c.921-2A>G;ENST00000399721:exon11:c.921-2A>G;ENST00000360790:exon11:c.921-2A>G)	.	.	0.99994568797423	0.962
18	20572709	A	T	18	22992746	y	y	splicing	RBBP8(NM_002894:exon11:c.921-2A>T;NM_203292:exon11:c.921-2A>T;NM_203291:exon11:c.921-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.921-2A>T;ENST00000399722:exon11:c.921-2A>T;ENST00000399725:exon11:c.921-2A>T;ENST00000399721:exon11:c.921-2A>T;ENST00000360790:exon11:c.921-2A>T)	.	.	0.99994568797423	0.95
18	20572710	G	A	18	22992747	y	y	splicing	RBBP8(NM_002894:exon11:c.921-1G>A;NM_203292:exon11:c.921-1G>A;NM_203291:exon11:c.921-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.921-1G>A;ENST00000399722:exon11:c.921-1G>A;ENST00000399725:exon11:c.921-1G>A;ENST00000399721:exon11:c.921-1G>A;ENST00000360790:exon11:c.921-1G>A)	.	.	0.99995545544995	0.942
18	20572710	G	C	18	22992747	y	y	splicing	RBBP8(NM_002894:exon11:c.921-1G>C;NM_203292:exon11:c.921-1G>C;NM_203291:exon11:c.921-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.921-1G>C;ENST00000399722:exon11:c.921-1G>C;ENST00000399725:exon11:c.921-1G>C;ENST00000399721:exon11:c.921-1G>C;ENST00000360790:exon11:c.921-1G>C)	.	.	0.99995545544995	0.946
18	20572710	G	T	18	22992747	y	y	splicing	RBBP8(NM_002894:exon11:c.921-1G>T;NM_203292:exon11:c.921-1G>T;NM_203291:exon11:c.921-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.921-1G>T;ENST00000399722:exon11:c.921-1G>T;ENST00000399725:exon11:c.921-1G>T;ENST00000399721:exon11:c.921-1G>T;ENST00000360790:exon11:c.921-1G>T)	.	.	0.99995545544995	0.944
18	20572711	A	C	18	22992748	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A921C:p.R307S;RBBP8:NM_203292:exon11:c.A921C:p.R307S;RBBP8:NM_203291:exon11:c.A921C:p.R307S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.A921C:p.R307S;ENSG00000101773:ENST00000399725:exon11:c.A921C:p.R307S;ENSG00000101773:ENST00000399722:exon11:c.A921C:p.R307S;ENSG00000101773:ENST00000399721:exon11:c.A921C:p.R307S;ENSG00000101773:ENST00000360790:exon11:c.A921C:p.R307S;	8.15904733415855E-4	0.2
18	20572711	A	G	18	22992748	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon11:c.A921G:p.R307R;RBBP8:NM_203292:exon11:c.A921G:p.R307R;RBBP8:NM_203291:exon11:c.A921G:p.R307R;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.A921G:p.R307R;ENSG00000101773:ENST00000399725:exon11:c.A921G:p.R307R;ENSG00000101773:ENST00000399722:exon11:c.A921G:p.R307R;ENSG00000101773:ENST00000399721:exon11:c.A921G:p.R307R;ENSG00000101773:ENST00000360790:exon11:c.A921G:p.R307R;	5.97336075671208E-5	0.002
18	20572711	A	T	18	22992748	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A921T:p.R307S;RBBP8:NM_203292:exon11:c.A921T:p.R307S;RBBP8:NM_203291:exon11:c.A921T:p.R307S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.A921T:p.R307S;ENSG00000101773:ENST00000399725:exon11:c.A921T:p.R307S;ENSG00000101773:ENST00000399722:exon11:c.A921T:p.R307S;ENSG00000101773:ENST00000399721:exon11:c.A921T:p.R307S;ENSG00000101773:ENST00000360790:exon11:c.A921T:p.R307S;	4.8367162954262E-4	0.152
18	20572712	T	A	18	22992749	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.T922A:p.F308I;RBBP8:NM_203292:exon11:c.T922A:p.F308I;RBBP8:NM_203291:exon11:c.T922A:p.F308I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.T922A:p.F308I;ENSG00000101773:ENST00000399725:exon11:c.T922A:p.F308I;ENSG00000101773:ENST00000399722:exon11:c.T922A:p.F308I;ENSG00000101773:ENST00000399721:exon11:c.T922A:p.F308I;ENSG00000101773:ENST00000360790:exon11:c.T922A:p.F308I;	0.0569581057755401	0.188
18	20572712	T	C	18	22992749	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.T922C:p.F308L;RBBP8:NM_203292:exon11:c.T922C:p.F308L;RBBP8:NM_203291:exon11:c.T922C:p.F308L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.T922C:p.F308L;ENSG00000101773:ENST00000399725:exon11:c.T922C:p.F308L;ENSG00000101773:ENST00000399722:exon11:c.T922C:p.F308L;ENSG00000101773:ENST00000399721:exon11:c.T922C:p.F308L;ENSG00000101773:ENST00000360790:exon11:c.T922C:p.F308L;	0.0214029745491097	0.196
18	20572712	T	G	18	22992749	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.T922G:p.F308V;RBBP8:NM_203292:exon11:c.T922G:p.F308V;RBBP8:NM_203291:exon11:c.T922G:p.F308V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.T922G:p.F308V;ENSG00000101773:ENST00000399725:exon11:c.T922G:p.F308V;ENSG00000101773:ENST00000399722:exon11:c.T922G:p.F308V;ENSG00000101773:ENST00000399721:exon11:c.T922G:p.F308V;ENSG00000101773:ENST00000360790:exon11:c.T922G:p.F308V;	0.0715467216331225	0.202
18	20573600	A	C	18	22993637	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1810C:p.K604Q;RBBP8:NM_203292:exon11:c.A1810C:p.K604Q;RBBP8:NM_203291:exon11:c.A1810C:p.K604Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.A1810C:p.K604Q;ENSG00000101773:ENST00000399725:exon11:c.A1810C:p.K604Q;ENSG00000101773:ENST00000399722:exon11:c.A1810C:p.K604Q;ENSG00000101773:ENST00000583057:exon1:c.A154C:p.K52Q;ENSG00000101773:ENST00000360790:exon11:c.A1810C:p.K604Q;	3.33172645720747E-4	0.014
18	20573600	A	G	18	22993637	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1810G:p.K604E;RBBP8:NM_203292:exon11:c.A1810G:p.K604E;RBBP8:NM_203291:exon11:c.A1810G:p.K604E;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.A1810G:p.K604E;ENSG00000101773:ENST00000399725:exon11:c.A1810G:p.K604E;ENSG00000101773:ENST00000399722:exon11:c.A1810G:p.K604E;ENSG00000101773:ENST00000583057:exon1:c.A154G:p.K52E;ENSG00000101773:ENST00000360790:exon11:c.A1810G:p.K604E;	0.00366945903792523	0.094
18	20573600	A	T	18	22993637	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon11:c.A1810T:p.K604X;RBBP8:NM_203292:exon11:c.A1810T:p.K604X;RBBP8:NM_203291:exon11:c.A1810T:p.K604X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon11:c.A1810T:p.K604X;ENSG00000101773:ENST00000399725:exon11:c.A1810T:p.K604X;ENSG00000101773:ENST00000399722:exon11:c.A1810T:p.K604X;ENSG00000101773:ENST00000583057:exon1:c.A154T:p.K52X;ENSG00000101773:ENST00000360790:exon11:c.A1810T:p.K604X;	0.973907583769651	0.806
18	20573601	A	C	18	22993638	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1811C:p.K604T;RBBP8:NM_203292:exon11:c.A1811C:p.K604T;RBBP8:NM_203291:exon11:c.A1811C:p.K604T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.A1811C:p.K604T;ENSG00000101773:ENST00000399725:exon11:c.A1811C:p.K604T;ENSG00000101773:ENST00000399722:exon11:c.A1811C:p.K604T;ENSG00000101773:ENST00000583057:exon1:c.A155C:p.K52T;ENSG00000101773:ENST00000360790:exon11:c.A1811C:p.K604T;	0.999448474803762	0.982
18	20573601	A	G	18	22993638	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1811G:p.K604R;RBBP8:NM_203292:exon11:c.A1811G:p.K604R;RBBP8:NM_203291:exon11:c.A1811G:p.K604R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.A1811G:p.K604R;ENSG00000101773:ENST00000399725:exon11:c.A1811G:p.K604R;ENSG00000101773:ENST00000399722:exon11:c.A1811G:p.K604R;ENSG00000101773:ENST00000583057:exon1:c.A155G:p.K52R;ENSG00000101773:ENST00000360790:exon11:c.A1811G:p.K604R;	0.999174300159356	0.984
18	20573601	A	T	18	22993638	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1811T:p.K604M;RBBP8:NM_203292:exon11:c.A1811T:p.K604M;RBBP8:NM_203291:exon11:c.A1811T:p.K604M;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.A1811T:p.K604M;ENSG00000101773:ENST00000399725:exon11:c.A1811T:p.K604M;ENSG00000101773:ENST00000399722:exon11:c.A1811T:p.K604M;ENSG00000101773:ENST00000583057:exon1:c.A155T:p.K52M;ENSG00000101773:ENST00000360790:exon11:c.A1811T:p.K604M;	0.999894807853157	0.994
18	20573602	G	A	18	22993639	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon11:c.G1812A:p.K604K;RBBP8:NM_203292:exon11:c.G1812A:p.K604K;RBBP8:NM_203291:exon11:c.G1812A:p.K604K;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.G1812A:p.K604K;ENSG00000101773:ENST00000399725:exon11:c.G1812A:p.K604K;ENSG00000101773:ENST00000399722:exon11:c.G1812A:p.K604K;ENSG00000101773:ENST00000583057:exon1:c.G156A:p.K52K;ENSG00000101773:ENST00000360790:exon11:c.G1812A:p.K604K;	0.999959254904928	1.0
18	20573602	G	C	18	22993639	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.G1812C:p.K604N;RBBP8:NM_203292:exon11:c.G1812C:p.K604N;RBBP8:NM_203291:exon11:c.G1812C:p.K604N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.G1812C:p.K604N;ENSG00000101773:ENST00000399725:exon11:c.G1812C:p.K604N;ENSG00000101773:ENST00000399722:exon11:c.G1812C:p.K604N;ENSG00000101773:ENST00000583057:exon1:c.G156C:p.K52N;ENSG00000101773:ENST00000360790:exon11:c.G1812C:p.K604N;	0.999993956445069	1.0
18	20573602	G	T	18	22993639	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.G1812T:p.K604N;RBBP8:NM_203292:exon11:c.G1812T:p.K604N;RBBP8:NM_203291:exon11:c.G1812T:p.K604N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon11:c.G1812T:p.K604N;ENSG00000101773:ENST00000399725:exon11:c.G1812T:p.K604N;ENSG00000101773:ENST00000399722:exon11:c.G1812T:p.K604N;ENSG00000101773:ENST00000583057:exon1:c.G156T:p.K52N;ENSG00000101773:ENST00000360790:exon11:c.G1812T:p.K604N;	0.999982340422307	0.974
18	20573603	G	A	18	22993640	y	y	splicing	RBBP8(NM_002894:exon11:c.1812+1G>A;NM_203292:exon11:c.1812+1G>A;NM_203291:exon11:c.1812+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.1812+1G>A;ENST00000399722:exon11:c.1812+1G>A;ENST00000399725:exon11:c.1812+1G>A;ENST00000360790:exon11:c.1812+1G>A;ENST00000583057:exon1:c.156+1G>A)	.	.	0.999990361384395	0.938
18	20573603	G	C	18	22993640	y	y	splicing	RBBP8(NM_002894:exon11:c.1812+1G>C;NM_203292:exon11:c.1812+1G>C;NM_203291:exon11:c.1812+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.1812+1G>C;ENST00000399722:exon11:c.1812+1G>C;ENST00000399725:exon11:c.1812+1G>C;ENST00000360790:exon11:c.1812+1G>C;ENST00000583057:exon1:c.156+1G>C)	.	.	0.999990361384395	0.938
18	20573603	G	T	18	22993640	y	y	splicing	RBBP8(NM_002894:exon11:c.1812+1G>T;NM_203292:exon11:c.1812+1G>T;NM_203291:exon11:c.1812+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.1812+1G>T;ENST00000399722:exon11:c.1812+1G>T;ENST00000399725:exon11:c.1812+1G>T;ENST00000360790:exon11:c.1812+1G>T;ENST00000583057:exon1:c.156+1G>T)	.	.	0.999990361384395	0.938
18	20573604	T	A	18	22993641	y	y	splicing	RBBP8(NM_002894:exon11:c.1812+2T>A;NM_203292:exon11:c.1812+2T>A;NM_203291:exon11:c.1812+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.1812+2T>A;ENST00000399722:exon11:c.1812+2T>A;ENST00000399725:exon11:c.1812+2T>A;ENST00000360790:exon11:c.1812+2T>A;ENST00000583057:exon1:c.156+2T>A)	.	.	0.999988247793601	0.924
18	20573604	T	C	18	22993641	y	y	splicing	RBBP8(NM_002894:exon11:c.1812+2T>C;NM_203292:exon11:c.1812+2T>C;NM_203291:exon11:c.1812+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.1812+2T>C;ENST00000399722:exon11:c.1812+2T>C;ENST00000399725:exon11:c.1812+2T>C;ENST00000360790:exon11:c.1812+2T>C;ENST00000583057:exon1:c.156+2T>C)	.	.	0.986973409415639	0.636
18	20573604	T	G	18	22993641	y	y	splicing	RBBP8(NM_002894:exon11:c.1812+2T>G;NM_203292:exon11:c.1812+2T>G;NM_203291:exon11:c.1812+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon11:c.1812+2T>G;ENST00000399722:exon11:c.1812+2T>G;ENST00000399725:exon11:c.1812+2T>G;ENST00000360790:exon11:c.1812+2T>G;ENST00000583057:exon1:c.156+2T>G)	.	.	0.999988247793601	0.924
18	20573605	T	A	18	22993642	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.91425607680855E-4	0.056
18	20573605	T	C	18	22993642	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.006763652069916	0.218
18	20573605	T	G	18	22993642	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.19689649343752E-4	0.042
18	20573606	T	A	18	22993643	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00113812831800194	0.06
18	20573606	T	C	18	22993643	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0182748907428022	0.126
18	20573606	T	G	18	22993643	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0013200596266645	0.0
18	20573607	G	A	18	22993644	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999779295971419	0.928
18	20573607	G	C	18	22993644	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999986946811286	0.978
18	20573607	G	T	18	22993644	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999878145430737	0.916
18	20573608	T	A	18	22993645	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.915192621528157	0.534
18	20573608	T	C	18	22993645	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.85957647237285	0.578
18	20573608	T	G	18	22993645	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.779137637034447	0.56
18	20573609	G	A	18	22993646	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.64220855249413E-5	0.0
18	20573609	G	C	18	22993646	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.64220855249413E-5	0.002
18	20573609	G	T	18	22993646	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.42934711421798E-5	0.0
18	20573610	T	A	18	22993647	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.07434025756721E-4	0.0
18	20573610	T	C	18	22993647	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.87698428322107E-5	0.002
18	20573610	T	G	18	22993647	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.05965106060725E-5	0.028
18	20573672	T	A	18	22993709	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00304118913749862	0.152
18	20573672	T	C	18	22993709	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.87766059228746E-5	0.0
18	20573672	T	G	18	22993709	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.986596663401754	0.708
18	20573673	T	A	18	22993710	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.080695115169508	0.514
18	20573673	T	C	18	22993710	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.01397575533655E-4	0.108
18	20573673	T	G	18	22993710	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0171404928177084	0.442
18	20573674	T	A	18	22993711	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.159556953760971	0.47
18	20573674	T	C	18	22993711	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.72988066645293E-5	0.054
18	20573674	T	G	18	22993711	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0919544082283089	0.454
18	20573675	C	A	18	22993712	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.53275497839038E-5	0.006
18	20573675	C	G	18	22993712	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.98643893979554E-5	0.038
18	20573675	C	T	18	22993712	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.08250274202066E-5	0.07
18	20573676	T	A	18	22993713	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.994543541808465	0.85
18	20573676	T	C	18	22993713	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.85312315056334E-5	0.002
18	20573676	T	G	18	22993713	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0010255738119516	0.092
18	20573677	G	A	18	22993714	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.60765694018398E-5	0.064
18	20573677	G	C	18	22993714	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.15073709228486E-5	0.184
18	20573677	G	T	18	22993714	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.22182151589812E-5	0.144
18	20573678	T	A	18	22993715	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0162806271734598	0.18
18	20573678	T	C	18	22993715	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.46287897364602E-4	0.06
18	20573678	T	G	18	22993715	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0190776231816137	0.216
18	20573679	T	A	18	22993716	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.730562889015157	0.554
18	20573679	T	C	18	22993716	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00362075900872787	0.09
18	20573679	T	G	18	22993716	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.72733535871269	0.556
18	20573680	T	A	18	22993717	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.96584707765961E-4	0.042
18	20573680	T	C	18	22993717	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.96770554903453E-4	0.014
18	20573680	T	G	18	22993717	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00132665866277548	0.086
18	20573681	T	A	18	22993718	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0372633204524805	0.318
18	20573681	T	C	18	22993718	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.2775349194736E-5	0.088
18	20573681	T	G	18	22993718	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996739142972588	0.712
18	20573682	A	C	18	22993719	y	y	splicing	RBBP8(NM_002894:exon12:c.1813-2A>C;NM_203292:exon12:c.1813-2A>C;NM_203291:exon12:c.1813-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1813-2A>C;ENST00000399722:exon12:c.1813-2A>C;ENST00000399725:exon12:c.1813-2A>C;ENST00000360790:exon12:c.1813-2A>C;ENST00000583057:exon2:c.157-2A>C)	.	.	0.99996947969426	0.752
18	20573682	A	G	18	22993719	y	y	splicing	RBBP8(NM_002894:exon12:c.1813-2A>G;NM_203292:exon12:c.1813-2A>G;NM_203291:exon12:c.1813-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1813-2A>G;ENST00000399722:exon12:c.1813-2A>G;ENST00000399725:exon12:c.1813-2A>G;ENST00000360790:exon12:c.1813-2A>G;ENST00000583057:exon2:c.157-2A>G)	.	.	0.99996947969426	0.752
18	20573682	A	T	18	22993719	y	y	splicing	RBBP8(NM_002894:exon12:c.1813-2A>T;NM_203292:exon12:c.1813-2A>T;NM_203291:exon12:c.1813-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1813-2A>T;ENST00000399722:exon12:c.1813-2A>T;ENST00000399725:exon12:c.1813-2A>T;ENST00000360790:exon12:c.1813-2A>T;ENST00000583057:exon2:c.157-2A>T)	.	.	0.99996947969426	0.754
18	20573683	G	A	18	22993720	y	y	splicing	RBBP8(NM_002894:exon12:c.1813-1G>A;NM_203292:exon12:c.1813-1G>A;NM_203291:exon12:c.1813-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1813-1G>A;ENST00000399722:exon12:c.1813-1G>A;ENST00000399725:exon12:c.1813-1G>A;ENST00000360790:exon12:c.1813-1G>A;ENST00000583057:exon2:c.157-1G>A)	.	.	0.999991289042512	0.77
18	20573683	G	C	18	22993720	y	y	splicing	RBBP8(NM_002894:exon12:c.1813-1G>C;NM_203292:exon12:c.1813-1G>C;NM_203291:exon12:c.1813-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1813-1G>C;ENST00000399722:exon12:c.1813-1G>C;ENST00000399725:exon12:c.1813-1G>C;ENST00000360790:exon12:c.1813-1G>C;ENST00000583057:exon2:c.157-1G>C)	.	.	0.999991289042512	0.766
18	20573683	G	T	18	22993720	y	y	splicing	RBBP8(NM_002894:exon12:c.1813-1G>T;NM_203292:exon12:c.1813-1G>T;NM_203291:exon12:c.1813-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1813-1G>T;ENST00000399722:exon12:c.1813-1G>T;ENST00000399725:exon12:c.1813-1G>T;ENST00000360790:exon12:c.1813-1G>T;ENST00000583057:exon2:c.157-1G>T)	.	.	0.999991289042512	0.772
18	20573684	A	C	18	22993721	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.A1813C:p.S605R;RBBP8:NM_203292:exon12:c.A1813C:p.S605R;RBBP8:NM_203291:exon12:c.A1813C:p.S605R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1813C:p.S605R;ENSG00000101773:ENST00000399725:exon12:c.A1813C:p.S605R;ENSG00000101773:ENST00000399722:exon12:c.A1813C:p.S605R;ENSG00000101773:ENST00000583057:exon2:c.A157C:p.S53R;ENSG00000101773:ENST00000360790:exon12:c.A1813C:p.S605R;	2.32451623796407E-4	0.062
18	20573684	A	G	18	22993721	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.A1813G:p.S605G;RBBP8:NM_203292:exon12:c.A1813G:p.S605G;RBBP8:NM_203291:exon12:c.A1813G:p.S605G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1813G:p.S605G;ENSG00000101773:ENST00000399725:exon12:c.A1813G:p.S605G;ENSG00000101773:ENST00000399722:exon12:c.A1813G:p.S605G;ENSG00000101773:ENST00000583057:exon2:c.A157G:p.S53G;ENSG00000101773:ENST00000360790:exon12:c.A1813G:p.S605G;	2.17795672159506E-5	0.016
18	20573684	A	T	18	22993721	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.A1813T:p.S605C;RBBP8:NM_203292:exon12:c.A1813T:p.S605C;RBBP8:NM_203291:exon12:c.A1813T:p.S605C;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1813T:p.S605C;ENSG00000101773:ENST00000399725:exon12:c.A1813T:p.S605C;ENSG00000101773:ENST00000399722:exon12:c.A1813T:p.S605C;ENSG00000101773:ENST00000583057:exon2:c.A157T:p.S53C;ENSG00000101773:ENST00000360790:exon12:c.A1813T:p.S605C;	1.4226832044685E-4	0.058
18	20573685	G	A	18	22993722	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.G1814A:p.S605N;RBBP8:NM_203292:exon12:c.G1814A:p.S605N;RBBP8:NM_203291:exon12:c.G1814A:p.S605N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.G1814A:p.S605N;ENSG00000101773:ENST00000399725:exon12:c.G1814A:p.S605N;ENSG00000101773:ENST00000399722:exon12:c.G1814A:p.S605N;ENSG00000101773:ENST00000583057:exon2:c.G158A:p.S53N;ENSG00000101773:ENST00000360790:exon12:c.G1814A:p.S605N;	2.34804234922182E-5	0.0
18	20573685	G	C	18	22993722	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.G1814C:p.S605T;RBBP8:NM_203292:exon12:c.G1814C:p.S605T;RBBP8:NM_203291:exon12:c.G1814C:p.S605T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.G1814C:p.S605T;ENSG00000101773:ENST00000399725:exon12:c.G1814C:p.S605T;ENSG00000101773:ENST00000399722:exon12:c.G1814C:p.S605T;ENSG00000101773:ENST00000583057:exon2:c.G158C:p.S53T;ENSG00000101773:ENST00000360790:exon12:c.G1814C:p.S605T;	1.83995728143045E-5	0.002
18	20573685	G	T	18	22993722	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.G1814T:p.S605I;RBBP8:NM_203292:exon12:c.G1814T:p.S605I;RBBP8:NM_203291:exon12:c.G1814T:p.S605I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.G1814T:p.S605I;ENSG00000101773:ENST00000399725:exon12:c.G1814T:p.S605I;ENSG00000101773:ENST00000399722:exon12:c.G1814T:p.S605I;ENSG00000101773:ENST00000583057:exon2:c.G158T:p.S53I;ENSG00000101773:ENST00000360790:exon12:c.G1814T:p.S605I;	3.2262228984519E-5	0.078
18	20573808	A	C	18	22993845	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.A1937C:p.Q646P;RBBP8:NM_203292:exon12:c.A1937C:p.Q646P;RBBP8:NM_203291:exon12:c.A1937C:p.Q646P;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1937C:p.Q646P;ENSG00000101773:ENST00000399725:exon12:c.A1937C:p.Q646P;ENSG00000101773:ENST00000399722:exon12:c.A1937C:p.Q646P;ENSG00000101773:ENST00000583057:exon2:c.A281C:p.Q94P;ENSG00000101773:ENST00000360790:exon12:c.A1937C:p.Q646P;	0.395654011149617	0.436
18	20573808	A	G	18	22993845	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.A1937G:p.Q646R;RBBP8:NM_203292:exon12:c.A1937G:p.Q646R;RBBP8:NM_203291:exon12:c.A1937G:p.Q646R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1937G:p.Q646R;ENSG00000101773:ENST00000399725:exon12:c.A1937G:p.Q646R;ENSG00000101773:ENST00000399722:exon12:c.A1937G:p.Q646R;ENSG00000101773:ENST00000583057:exon2:c.A281G:p.Q94R;ENSG00000101773:ENST00000360790:exon12:c.A1937G:p.Q646R;	0.159211900727938	0.296
18	20573808	A	T	18	22993845	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.A1937T:p.Q646L;RBBP8:NM_203292:exon12:c.A1937T:p.Q646L;RBBP8:NM_203291:exon12:c.A1937T:p.Q646L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1937T:p.Q646L;ENSG00000101773:ENST00000399725:exon12:c.A1937T:p.Q646L;ENSG00000101773:ENST00000399722:exon12:c.A1937T:p.Q646L;ENSG00000101773:ENST00000583057:exon2:c.A281T:p.Q94L;ENSG00000101773:ENST00000360790:exon12:c.A1937T:p.Q646L;	0.895423308887135	0.536
18	20573809	A	C	18	22993846	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.A1938C:p.Q646H;RBBP8:NM_203292:exon12:c.A1938C:p.Q646H;RBBP8:NM_203291:exon12:c.A1938C:p.Q646H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1938C:p.Q646H;ENSG00000101773:ENST00000399725:exon12:c.A1938C:p.Q646H;ENSG00000101773:ENST00000399722:exon12:c.A1938C:p.Q646H;ENSG00000101773:ENST00000583057:exon2:c.A282C:p.Q94H;ENSG00000101773:ENST00000360790:exon12:c.A1938C:p.Q646H;	0.474727142599155	0.664
18	20573809	A	G	18	22993846	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon12:c.A1938G:p.Q646Q;RBBP8:NM_203292:exon12:c.A1938G:p.Q646Q;RBBP8:NM_203291:exon12:c.A1938G:p.Q646Q;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1938G:p.Q646Q;ENSG00000101773:ENST00000399725:exon12:c.A1938G:p.Q646Q;ENSG00000101773:ENST00000399722:exon12:c.A1938G:p.Q646Q;ENSG00000101773:ENST00000583057:exon2:c.A282G:p.Q94Q;ENSG00000101773:ENST00000360790:exon12:c.A1938G:p.Q646Q;	0.720097655512618	0.508
18	20573809	A	T	18	22993846	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.A1938T:p.Q646H;RBBP8:NM_203292:exon12:c.A1938T:p.Q646H;RBBP8:NM_203291:exon12:c.A1938T:p.Q646H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.A1938T:p.Q646H;ENSG00000101773:ENST00000399725:exon12:c.A1938T:p.Q646H;ENSG00000101773:ENST00000399722:exon12:c.A1938T:p.Q646H;ENSG00000101773:ENST00000583057:exon2:c.A282T:p.Q94H;ENSG00000101773:ENST00000360790:exon12:c.A1938T:p.Q646H;	0.964519661405927	0.702
18	20573810	G	A	18	22993847	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.G1939A:p.D647N;RBBP8:NM_203292:exon12:c.G1939A:p.D647N;RBBP8:NM_203291:exon12:c.G1939A:p.D647N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.G1939A:p.D647N;ENSG00000101773:ENST00000399725:exon12:c.G1939A:p.D647N;ENSG00000101773:ENST00000399722:exon12:c.G1939A:p.D647N;ENSG00000101773:ENST00000583057:exon2:c.G283A:p.D95N;ENSG00000101773:ENST00000360790:exon12:c.G1939A:p.D647N;	0.999586699370624	0.988
18	20573810	G	C	18	22993847	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.G1939C:p.D647H;RBBP8:NM_203292:exon12:c.G1939C:p.D647H;RBBP8:NM_203291:exon12:c.G1939C:p.D647H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.G1939C:p.D647H;ENSG00000101773:ENST00000399725:exon12:c.G1939C:p.D647H;ENSG00000101773:ENST00000399722:exon12:c.G1939C:p.D647H;ENSG00000101773:ENST00000583057:exon2:c.G283C:p.D95H;ENSG00000101773:ENST00000360790:exon12:c.G1939C:p.D647H;	0.999986509206044	0.916
18	20573810	G	T	18	22993847	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon12:c.G1939T:p.D647Y;RBBP8:NM_203292:exon12:c.G1939T:p.D647Y;RBBP8:NM_203291:exon12:c.G1939T:p.D647Y;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon12:c.G1939T:p.D647Y;ENSG00000101773:ENST00000399725:exon12:c.G1939T:p.D647Y;ENSG00000101773:ENST00000399722:exon12:c.G1939T:p.D647Y;ENSG00000101773:ENST00000583057:exon2:c.G283T:p.D95Y;ENSG00000101773:ENST00000360790:exon12:c.G1939T:p.D647Y;	0.999496734198001	0.918
18	20573811	G	A	18	22993848	y	y	splicing	RBBP8(NM_002894:exon12:c.1939+1G>A;NM_203292:exon12:c.1939+1G>A;NM_203291:exon12:c.1939+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1939+1G>A;ENST00000399722:exon12:c.1939+1G>A;ENST00000399725:exon12:c.1939+1G>A;ENST00000360790:exon12:c.1939+1G>A;ENST00000583057:exon2:c.283+1G>A)	.	.	0.999946188727699	0.932
18	20573811	G	C	18	22993848	y	y	splicing	RBBP8(NM_002894:exon12:c.1939+1G>C;NM_203292:exon12:c.1939+1G>C;NM_203291:exon12:c.1939+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1939+1G>C;ENST00000399722:exon12:c.1939+1G>C;ENST00000399725:exon12:c.1939+1G>C;ENST00000360790:exon12:c.1939+1G>C;ENST00000583057:exon2:c.283+1G>C)	.	.	0.999964896440643	0.93
18	20573811	G	T	18	22993848	y	y	splicing	RBBP8(NM_002894:exon12:c.1939+1G>T;NM_203292:exon12:c.1939+1G>T;NM_203291:exon12:c.1939+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1939+1G>T;ENST00000399722:exon12:c.1939+1G>T;ENST00000399725:exon12:c.1939+1G>T;ENST00000360790:exon12:c.1939+1G>T;ENST00000583057:exon2:c.283+1G>T)	.	.	0.999964896440643	0.93
18	20573812	T	A	18	22993849	y	y	splicing	RBBP8(NM_002894:exon12:c.1939+2T>A;NM_203292:exon12:c.1939+2T>A;NM_203291:exon12:c.1939+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1939+2T>A;ENST00000399722:exon12:c.1939+2T>A;ENST00000399725:exon12:c.1939+2T>A;ENST00000360790:exon12:c.1939+2T>A;ENST00000583057:exon2:c.283+2T>A)	.	.	0.999949303555747	0.88
18	20573812	T	C	18	22993849	y	y	splicing	RBBP8(NM_002894:exon12:c.1939+2T>C;NM_203292:exon12:c.1939+2T>C;NM_203291:exon12:c.1939+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1939+2T>C;ENST00000399722:exon12:c.1939+2T>C;ENST00000399725:exon12:c.1939+2T>C;ENST00000360790:exon12:c.1939+2T>C;ENST00000583057:exon2:c.283+2T>C)	.	.	0.999783273531054	0.826
18	20573812	T	G	18	22993849	y	y	splicing	RBBP8(NM_002894:exon12:c.1939+2T>G;NM_203292:exon12:c.1939+2T>G;NM_203291:exon12:c.1939+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon12:c.1939+2T>G;ENST00000399722:exon12:c.1939+2T>G;ENST00000399725:exon12:c.1939+2T>G;ENST00000360790:exon12:c.1939+2T>G;ENST00000583057:exon2:c.283+2T>G)	.	.	0.999944025356209	0.854
18	20573813	G	A	18	22993850	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.25485911168179E-5	0.138
18	20573813	G	C	18	22993850	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00412773118421402	0.112
18	20573813	G	T	18	22993850	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.88427418399987E-4	0.1
18	20573814	T	A	18	22993851	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00359804172636717	0.122
18	20573814	T	C	18	22993851	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0169902820734693	0.132
18	20573814	T	G	18	22993851	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00170647411269834	0.018
18	20573815	G	A	18	22993852	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996168091169718	0.842
18	20573815	G	C	18	22993852	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997808002814327	0.886
18	20573815	G	T	18	22993852	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998918539006763	0.882
18	20573816	T	A	18	22993853	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0490088311913287	0.224
18	20573816	T	C	18	22993853	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00266744603363079	0.154
18	20573816	T	G	18	22993853	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00190616065433781	0.114
18	20573817	A	C	18	22993854	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.5480235718294E-5	0.0
18	20573817	A	G	18	22993854	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.62031921402804E-5	0.0
18	20573817	A	T	18	22993854	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.28001151734084E-5	0.0
18	20573818	C	A	18	22993855	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.585416616557E-5	0.0
18	20573818	C	G	18	22993855	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.73155012814933E-5	0.0
18	20573818	C	T	18	22993855	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.52293868212492E-5	0.0
18	20576325	C	A	18	22996362	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.65950327113762E-4	0.084
18	20576325	C	G	18	22996362	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.78262468883616E-4	0.056
18	20576325	C	T	18	22996362	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.06481237244302E-5	0.0
18	20576326	C	A	18	22996363	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.13172951186374E-4	0.07
18	20576326	C	G	18	22996363	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.32917170164755E-4	0.086
18	20576326	C	T	18	22996363	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.10196692765564E-5	0.032
18	20576327	T	A	18	22996364	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.16890937139798E-4	0.108
18	20576327	T	C	18	22996364	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.01441982547805E-5	0.02
18	20576327	T	G	18	22996364	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00119212131742573	0.192
18	20576328	T	A	18	22996365	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.45368548808877E-4	0.214
18	20576328	T	C	18	22996365	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.63144851206749E-5	0.074
18	20576328	T	G	18	22996365	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.26183842946024E-4	0.218
18	20576329	T	A	18	22996366	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00543101084322491	0.188
18	20576329	T	C	18	22996366	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.85925817712919E-4	0.086
18	20576329	T	G	18	22996366	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0046583850091177	0.168
18	20576330	A	C	18	22996367	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.0350148028591E-5	0.052
18	20576330	A	G	18	22996367	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.56500176944218E-5	0.012
18	20576330	A	T	18	22996367	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.12835332982045E-5	0.042
18	20576331	C	A	18	22996368	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00195704604408289	0.158
18	20576331	C	G	18	22996368	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.993945550586017	0.594
18	20576331	C	T	18	22996368	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.60433886793066E-5	0.0
18	20576332	C	A	18	22996369	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0217269296114806	0.242
18	20576332	C	G	18	22996369	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00704350523601174	0.262
18	20576332	C	T	18	22996369	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.70498330416488E-5	0.018
18	20576333	T	A	18	22996370	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.37892305195228E-5	0.0
18	20576333	T	C	18	22996370	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.80072087715166E-6	0.0
18	20576333	T	G	18	22996370	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.74097039790037E-6	0.0
18	20576334	A	C	18	22996371	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.38042734827858E-4	0.12
18	20576334	A	G	18	22996371	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.457121432527915	0.428
18	20576334	A	T	18	22996371	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.81267721035458E-4	0.03
18	20576335	A	C	18	22996372	y	y	splicing	RBBP8(NM_002894:exon13:c.1940-2A>C;NM_203292:exon13:c.1940-2A>C;NM_203291:exon13:c.1940-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.1940-2A>C;ENST00000399722:exon13:c.1940-2A>C;ENST00000399725:exon13:c.1940-2A>C;ENST00000360790:exon13:c.1940-2A>C;ENST00000583057:exon3:c.284-2A>C)	.	.	0.999968585001639	0.892
18	20576335	A	G	18	22996372	y	y	splicing	RBBP8(NM_002894:exon13:c.1940-2A>G;NM_203292:exon13:c.1940-2A>G;NM_203291:exon13:c.1940-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.1940-2A>G;ENST00000399722:exon13:c.1940-2A>G;ENST00000399725:exon13:c.1940-2A>G;ENST00000360790:exon13:c.1940-2A>G;ENST00000583057:exon3:c.284-2A>G)	.	.	0.999968585001639	0.892
18	20576335	A	T	18	22996372	y	y	splicing	RBBP8(NM_002894:exon13:c.1940-2A>T;NM_203292:exon13:c.1940-2A>T;NM_203291:exon13:c.1940-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.1940-2A>T;ENST00000399722:exon13:c.1940-2A>T;ENST00000399725:exon13:c.1940-2A>T;ENST00000360790:exon13:c.1940-2A>T;ENST00000583057:exon3:c.284-2A>T)	.	.	0.999969393053703	0.918
18	20576336	G	A	18	22996373	y	y	splicing	RBBP8(NM_002894:exon13:c.1940-1G>A;NM_203292:exon13:c.1940-1G>A;NM_203291:exon13:c.1940-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.1940-1G>A;ENST00000399722:exon13:c.1940-1G>A;ENST00000399725:exon13:c.1940-1G>A;ENST00000360790:exon13:c.1940-1G>A;ENST00000583057:exon3:c.284-1G>A)	.	.	0.999973459734236	0.92
18	20576336	G	C	18	22996373	y	y	splicing	RBBP8(NM_002894:exon13:c.1940-1G>C;NM_203292:exon13:c.1940-1G>C;NM_203291:exon13:c.1940-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.1940-1G>C;ENST00000399722:exon13:c.1940-1G>C;ENST00000399725:exon13:c.1940-1G>C;ENST00000360790:exon13:c.1940-1G>C;ENST00000583057:exon3:c.284-1G>C)	.	.	0.999974234781627	0.896
18	20576336	G	T	18	22996373	y	y	splicing	RBBP8(NM_002894:exon13:c.1940-1G>T;NM_203292:exon13:c.1940-1G>T;NM_203291:exon13:c.1940-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.1940-1G>T;ENST00000399722:exon13:c.1940-1G>T;ENST00000399725:exon13:c.1940-1G>T;ENST00000360790:exon13:c.1940-1G>T;ENST00000583057:exon3:c.284-1G>T)	.	.	0.999974897514512	0.92
18	20576337	A	C	18	22996374	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.A1940C:p.D647A;RBBP8:NM_203292:exon13:c.A1940C:p.D647A;RBBP8:NM_203291:exon13:c.A1940C:p.D647A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.A1940C:p.D647A;ENSG00000101773:ENST00000399725:exon13:c.A1940C:p.D647A;ENSG00000101773:ENST00000399722:exon13:c.A1940C:p.D647A;ENSG00000101773:ENST00000583057:exon3:c.A284C:p.D95A;ENSG00000101773:ENST00000360790:exon13:c.A1940C:p.D647A;	3.79091704562806E-4	0.132
18	20576337	A	G	18	22996374	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.A1940G:p.D647G;RBBP8:NM_203292:exon13:c.A1940G:p.D647G;RBBP8:NM_203291:exon13:c.A1940G:p.D647G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.A1940G:p.D647G;ENSG00000101773:ENST00000399725:exon13:c.A1940G:p.D647G;ENSG00000101773:ENST00000399722:exon13:c.A1940G:p.D647G;ENSG00000101773:ENST00000583057:exon3:c.A284G:p.D95G;ENSG00000101773:ENST00000360790:exon13:c.A1940G:p.D647G;	7.93585057889936E-5	0.002
18	20576337	A	T	18	22996374	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.A1940T:p.D647V;RBBP8:NM_203292:exon13:c.A1940T:p.D647V;RBBP8:NM_203291:exon13:c.A1940T:p.D647V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.A1940T:p.D647V;ENSG00000101773:ENST00000399725:exon13:c.A1940T:p.D647V;ENSG00000101773:ENST00000399722:exon13:c.A1940T:p.D647V;ENSG00000101773:ENST00000583057:exon3:c.A284T:p.D95V;ENSG00000101773:ENST00000360790:exon13:c.A1940T:p.D647V;	0.00178651143338934	0.082
18	20576338	T	A	18	22996375	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.T1941A:p.D647E;RBBP8:NM_203292:exon13:c.T1941A:p.D647E;RBBP8:NM_203291:exon13:c.T1941A:p.D647E;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.T1941A:p.D647E;ENSG00000101773:ENST00000399725:exon13:c.T1941A:p.D647E;ENSG00000101773:ENST00000399722:exon13:c.T1941A:p.D647E;ENSG00000101773:ENST00000583057:exon3:c.T285A:p.D95E;ENSG00000101773:ENST00000360790:exon13:c.T1941A:p.D647E;	0.0317341711345455	0.192
18	20576338	T	C	18	22996375	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon13:c.T1941C:p.D647D;RBBP8:NM_203292:exon13:c.T1941C:p.D647D;RBBP8:NM_203291:exon13:c.T1941C:p.D647D;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.T1941C:p.D647D;ENSG00000101773:ENST00000399725:exon13:c.T1941C:p.D647D;ENSG00000101773:ENST00000399722:exon13:c.T1941C:p.D647D;ENSG00000101773:ENST00000583057:exon3:c.T285C:p.D95D;ENSG00000101773:ENST00000360790:exon13:c.T1941C:p.D647D;	0.00811513370265417	0.186
18	20576338	T	G	18	22996375	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.T1941G:p.D647E;RBBP8:NM_203292:exon13:c.T1941G:p.D647E;RBBP8:NM_203291:exon13:c.T1941G:p.D647E;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.T1941G:p.D647E;ENSG00000101773:ENST00000399725:exon13:c.T1941G:p.D647E;ENSG00000101773:ENST00000399722:exon13:c.T1941G:p.D647E;ENSG00000101773:ENST00000583057:exon3:c.T285G:p.D95E;ENSG00000101773:ENST00000360790:exon13:c.T1941G:p.D647E;	0.00846466520330356	0.072
18	20576423	A	C	18	22996460	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.A2026C:p.K676Q;RBBP8:NM_203292:exon13:c.A2026C:p.K676Q;RBBP8:NM_203291:exon13:c.A2026C:p.K676Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.A2026C:p.K676Q;ENSG00000101773:ENST00000399725:exon13:c.A2026C:p.K676Q;ENSG00000101773:ENST00000399722:exon13:c.A2026C:p.K676Q;ENSG00000101773:ENST00000583057:exon3:c.A370C:p.K124Q;ENSG00000101773:ENST00000360790:exon13:c.A2026C:p.K676Q;	0.860128653663827	0.694
18	20576423	A	G	18	22996460	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.A2026G:p.K676E;RBBP8:NM_203292:exon13:c.A2026G:p.K676E;RBBP8:NM_203291:exon13:c.A2026G:p.K676E;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.A2026G:p.K676E;ENSG00000101773:ENST00000399725:exon13:c.A2026G:p.K676E;ENSG00000101773:ENST00000399722:exon13:c.A2026G:p.K676E;ENSG00000101773:ENST00000583057:exon3:c.A370G:p.K124E;ENSG00000101773:ENST00000360790:exon13:c.A2026G:p.K676E;	0.602271151173635	0.46
18	20576423	A	T	18	22996460	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon13:c.A2026T:p.K676X;RBBP8:NM_203292:exon13:c.A2026T:p.K676X;RBBP8:NM_203291:exon13:c.A2026T:p.K676X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon13:c.A2026T:p.K676X;ENSG00000101773:ENST00000399725:exon13:c.A2026T:p.K676X;ENSG00000101773:ENST00000399722:exon13:c.A2026T:p.K676X;ENSG00000101773:ENST00000583057:exon3:c.A370T:p.K124X;ENSG00000101773:ENST00000360790:exon13:c.A2026T:p.K676X;	0.985663162279001	0.666
18	20576424	A	C	18	22996461	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.A2027C:p.K676T;RBBP8:NM_203292:exon13:c.A2027C:p.K676T;RBBP8:NM_203291:exon13:c.A2027C:p.K676T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.A2027C:p.K676T;ENSG00000101773:ENST00000399725:exon13:c.A2027C:p.K676T;ENSG00000101773:ENST00000399722:exon13:c.A2027C:p.K676T;ENSG00000101773:ENST00000583057:exon3:c.A371C:p.K124T;ENSG00000101773:ENST00000360790:exon13:c.A2027C:p.K676T;	0.991025691156906	0.674
18	20576424	A	G	18	22996461	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.A2027G:p.K676R;RBBP8:NM_203292:exon13:c.A2027G:p.K676R;RBBP8:NM_203291:exon13:c.A2027G:p.K676R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.A2027G:p.K676R;ENSG00000101773:ENST00000399725:exon13:c.A2027G:p.K676R;ENSG00000101773:ENST00000399722:exon13:c.A2027G:p.K676R;ENSG00000101773:ENST00000583057:exon3:c.A371G:p.K124R;ENSG00000101773:ENST00000360790:exon13:c.A2027G:p.K676R;	0.993782166546605	0.726
18	20576424	A	T	18	22996461	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.A2027T:p.K676M;RBBP8:NM_203292:exon13:c.A2027T:p.K676M;RBBP8:NM_203291:exon13:c.A2027T:p.K676M;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.A2027T:p.K676M;ENSG00000101773:ENST00000399725:exon13:c.A2027T:p.K676M;ENSG00000101773:ENST00000399722:exon13:c.A2027T:p.K676M;ENSG00000101773:ENST00000583057:exon3:c.A371T:p.K124M;ENSG00000101773:ENST00000360790:exon13:c.A2027T:p.K676M;	0.987112739508085	0.598
18	20576425	G	A	18	22996462	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon13:c.G2028A:p.K676K;RBBP8:NM_203292:exon13:c.G2028A:p.K676K;RBBP8:NM_203291:exon13:c.G2028A:p.K676K;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.G2028A:p.K676K;ENSG00000101773:ENST00000399725:exon13:c.G2028A:p.K676K;ENSG00000101773:ENST00000399722:exon13:c.G2028A:p.K676K;ENSG00000101773:ENST00000583057:exon3:c.G372A:p.K124K;ENSG00000101773:ENST00000360790:exon13:c.G2028A:p.K676K;	0.64654362914741	0.72
18	20576425	G	C	18	22996462	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.G2028C:p.K676N;RBBP8:NM_203292:exon13:c.G2028C:p.K676N;RBBP8:NM_203291:exon13:c.G2028C:p.K676N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.G2028C:p.K676N;ENSG00000101773:ENST00000399725:exon13:c.G2028C:p.K676N;ENSG00000101773:ENST00000399722:exon13:c.G2028C:p.K676N;ENSG00000101773:ENST00000583057:exon3:c.G372C:p.K124N;ENSG00000101773:ENST00000360790:exon13:c.G2028C:p.K676N;	0.988055023107948	0.864
18	20576425	G	T	18	22996462	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon13:c.G2028T:p.K676N;RBBP8:NM_203292:exon13:c.G2028T:p.K676N;RBBP8:NM_203291:exon13:c.G2028T:p.K676N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon13:c.G2028T:p.K676N;ENSG00000101773:ENST00000399725:exon13:c.G2028T:p.K676N;ENSG00000101773:ENST00000399722:exon13:c.G2028T:p.K676N;ENSG00000101773:ENST00000583057:exon3:c.G372T:p.K124N;ENSG00000101773:ENST00000360790:exon13:c.G2028T:p.K676N;	0.995462353384009	0.934
18	20576426	G	A	18	22996463	y	y	splicing	RBBP8(NM_002894:exon13:c.2028+1G>A;NM_203292:exon13:c.2028+1G>A;NM_203291:exon13:c.2028+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.2028+1G>A;ENST00000399722:exon13:c.2028+1G>A;ENST00000399725:exon13:c.2028+1G>A;ENST00000360790:exon13:c.2028+1G>A;ENST00000583057:exon3:c.372+1G>A)	.	.	0.999990361384395	0.938
18	20576426	G	C	18	22996463	y	y	splicing	RBBP8(NM_002894:exon13:c.2028+1G>C;NM_203292:exon13:c.2028+1G>C;NM_203291:exon13:c.2028+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.2028+1G>C;ENST00000399722:exon13:c.2028+1G>C;ENST00000399725:exon13:c.2028+1G>C;ENST00000360790:exon13:c.2028+1G>C;ENST00000583057:exon3:c.372+1G>C)	.	.	0.999990361384395	0.938
18	20576426	G	T	18	22996463	y	y	splicing	RBBP8(NM_002894:exon13:c.2028+1G>T;NM_203292:exon13:c.2028+1G>T;NM_203291:exon13:c.2028+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.2028+1G>T;ENST00000399722:exon13:c.2028+1G>T;ENST00000399725:exon13:c.2028+1G>T;ENST00000360790:exon13:c.2028+1G>T;ENST00000583057:exon3:c.372+1G>T)	.	.	0.999990361384395	0.938
18	20576427	T	A	18	22996464	y	y	splicing	RBBP8(NM_002894:exon13:c.2028+2T>A;NM_203292:exon13:c.2028+2T>A;NM_203291:exon13:c.2028+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.2028+2T>A;ENST00000399722:exon13:c.2028+2T>A;ENST00000399725:exon13:c.2028+2T>A;ENST00000360790:exon13:c.2028+2T>A;ENST00000583057:exon3:c.372+2T>A)	.	.	0.999988247793601	0.93
18	20576427	T	C	18	22996464	y	y	splicing	RBBP8(NM_002894:exon13:c.2028+2T>C;NM_203292:exon13:c.2028+2T>C;NM_203291:exon13:c.2028+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.2028+2T>C;ENST00000399722:exon13:c.2028+2T>C;ENST00000399725:exon13:c.2028+2T>C;ENST00000360790:exon13:c.2028+2T>C;ENST00000583057:exon3:c.372+2T>C)	.	.	0.991305317320824	0.664
18	20576427	T	G	18	22996464	y	y	splicing	RBBP8(NM_002894:exon13:c.2028+2T>G;NM_203292:exon13:c.2028+2T>G;NM_203291:exon13:c.2028+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon13:c.2028+2T>G;ENST00000399722:exon13:c.2028+2T>G;ENST00000399725:exon13:c.2028+2T>G;ENST00000360790:exon13:c.2028+2T>G;ENST00000583057:exon3:c.372+2T>G)	.	.	0.999988247793601	0.93
18	20576428	A	C	18	22996465	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.980838917254674	0.73
18	20576428	A	G	18	22996465	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0160539216287822	0.17
18	20576428	A	T	18	22996465	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.739037298554635	0.594
18	20576429	A	C	18	22996466	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.976455321199857	0.846
18	20576429	A	G	18	22996466	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.99260171799258	0.842
18	20576429	A	T	18	22996466	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.966422926134712	0.842
18	20576430	G	A	18	22996467	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.974626908401167	0.74
18	20576430	G	C	18	22996467	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.92015914922132	0.676
18	20576430	G	T	18	22996467	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.95852491468325	0.658
18	20576431	T	A	18	22996468	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00759331738479572	0.19
18	20576431	T	C	18	22996468	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00799364336374164	0.146
18	20576431	T	G	18	22996468	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00253645359653282	0.14
18	20576432	T	A	18	22996469	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.7898797240203E-5	0.006
18	20576432	T	C	18	22996469	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.6286816428671E-4	0.016
18	20576432	T	G	18	22996469	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.9523311463595E-5	0.006
18	20576433	A	C	18	22996470	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.64906404345629E-4	0.004
18	20576433	A	G	18	22996470	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.64906404345629E-4	0.004
18	20576433	A	T	18	22996470	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.64906404345629E-4	0.05
18	20577571	A	C	18	22997608	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.98957950671389E-4	0.078
18	20577571	A	G	18	22997608	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998278390521804	0.952
18	20577571	A	T	18	22997608	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.72600015598163E-5	0.134
18	20577572	T	A	18	22997609	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.981387672220492	0.748
18	20577572	T	C	18	22997609	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.451799848327764	0.346
18	20577572	T	G	18	22997609	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999994084909474	0.926
18	20577573	A	C	18	22997610	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.61871909221926E-5	0.166
18	20577573	A	G	18	22997610	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.9259241140002E-5	0.076
18	20577573	A	T	18	22997610	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.9608412860597E-5	0.21
18	20577574	T	A	18	22997611	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.725980410815878	0.634
18	20577574	T	C	18	22997611	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0426431499380019	0.094
18	20577574	T	G	18	22997611	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999979338493346	0.97
18	20577575	T	A	18	22997612	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.927128735710975	0.644
18	20577575	T	C	18	22997612	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0291163755538731	0.214
18	20577575	T	G	18	22997612	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.945078601429286	0.56
18	20577576	T	A	18	22997613	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997783066663863	0.738
18	20577576	T	C	18	22997613	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.171143655940318	0.468
18	20577576	T	G	18	22997613	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997879476388329	0.624
18	20577577	A	C	18	22997614	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.71556980839055E-5	0.034
18	20577577	A	G	18	22997614	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.78649963685215E-4	0.04
18	20577577	A	T	18	22997614	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.74390765873567E-4	0.084
18	20577578	T	A	18	22997615	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0971046803236623	0.54
18	20577578	T	C	18	22997615	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.16765302379308E-4	0.164
18	20577578	T	G	18	22997615	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999725369629296	0.854
18	20577579	T	A	18	22997616	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0252372121035988	0.088
18	20577579	T	C	18	22997616	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00191375850385205	0.144
18	20577579	T	G	18	22997616	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00954656225736131	0.15
18	20577580	T	A	18	22997617	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0107552785572796	0.25
18	20577580	T	C	18	22997617	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.07330626479773E-5	0.062
18	20577580	T	G	18	22997617	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.945062613731918	0.622
18	20577581	A	C	18	22997618	y	y	splicing	RBBP8(NM_002894:exon14:c.2029-2A>C;NM_203292:exon14:c.2029-2A>C;NM_203291:exon14:c.2029-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2029-2A>C;ENST00000399722:exon14:c.2029-2A>C;ENST00000399725:exon14:c.2029-2A>C;ENST00000360790:exon14:c.2029-2A>C;ENST00000583057:exon4:c.373-2A>C)	.	.	0.999984890425641	0.924
18	20577581	A	G	18	22997618	y	y	splicing	RBBP8(NM_002894:exon14:c.2029-2A>G;NM_203292:exon14:c.2029-2A>G;NM_203291:exon14:c.2029-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2029-2A>G;ENST00000399722:exon14:c.2029-2A>G;ENST00000399725:exon14:c.2029-2A>G;ENST00000360790:exon14:c.2029-2A>G;ENST00000583057:exon4:c.373-2A>G)	.	.	0.999984890425641	0.924
18	20577581	A	T	18	22997618	y	y	splicing	RBBP8(NM_002894:exon14:c.2029-2A>T;NM_203292:exon14:c.2029-2A>T;NM_203291:exon14:c.2029-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2029-2A>T;ENST00000399722:exon14:c.2029-2A>T;ENST00000399725:exon14:c.2029-2A>T;ENST00000360790:exon14:c.2029-2A>T;ENST00000583057:exon4:c.373-2A>T)	.	.	0.999984890425641	0.924
18	20577582	G	A	18	22997619	y	y	splicing	RBBP8(NM_002894:exon14:c.2029-1G>A;NM_203292:exon14:c.2029-1G>A;NM_203291:exon14:c.2029-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2029-1G>A;ENST00000399722:exon14:c.2029-1G>A;ENST00000399725:exon14:c.2029-1G>A;ENST00000360790:exon14:c.2029-1G>A;ENST00000583057:exon4:c.373-1G>A)	.	.	0.999989125585301	0.944
18	20577582	G	C	18	22997619	y	y	splicing	RBBP8(NM_002894:exon14:c.2029-1G>C;NM_203292:exon14:c.2029-1G>C;NM_203291:exon14:c.2029-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2029-1G>C;ENST00000399722:exon14:c.2029-1G>C;ENST00000399725:exon14:c.2029-1G>C;ENST00000360790:exon14:c.2029-1G>C;ENST00000583057:exon4:c.373-1G>C)	.	.	0.999989125585301	0.944
18	20577582	G	T	18	22997619	y	y	splicing	RBBP8(NM_002894:exon14:c.2029-1G>T;NM_203292:exon14:c.2029-1G>T;NM_203291:exon14:c.2029-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2029-1G>T;ENST00000399722:exon14:c.2029-1G>T;ENST00000399725:exon14:c.2029-1G>T;ENST00000360790:exon14:c.2029-1G>T;ENST00000583057:exon4:c.373-1G>T)	.	.	0.999989125585301	0.944
18	20577583	G	A	18	22997620	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.G2029A:p.D677N;RBBP8:NM_203292:exon14:c.G2029A:p.D677N;RBBP8:NM_203291:exon14:c.G2029A:p.D677N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.G2029A:p.D677N;ENSG00000101773:ENST00000399725:exon14:c.G2029A:p.D677N;ENSG00000101773:ENST00000399722:exon14:c.G2029A:p.D677N;ENSG00000101773:ENST00000583057:exon4:c.G373A:p.D125N;ENSG00000101773:ENST00000360790:exon14:c.G2029A:p.D677N;	0.999899416592111	0.972
18	20577583	G	C	18	22997620	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.G2029C:p.D677H;RBBP8:NM_203292:exon14:c.G2029C:p.D677H;RBBP8:NM_203291:exon14:c.G2029C:p.D677H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.G2029C:p.D677H;ENSG00000101773:ENST00000399725:exon14:c.G2029C:p.D677H;ENSG00000101773:ENST00000399722:exon14:c.G2029C:p.D677H;ENSG00000101773:ENST00000583057:exon4:c.G373C:p.D125H;ENSG00000101773:ENST00000360790:exon14:c.G2029C:p.D677H;	0.999929032570507	0.976
18	20577583	G	T	18	22997620	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.G2029T:p.D677Y;RBBP8:NM_203292:exon14:c.G2029T:p.D677Y;RBBP8:NM_203291:exon14:c.G2029T:p.D677Y;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.G2029T:p.D677Y;ENSG00000101773:ENST00000399725:exon14:c.G2029T:p.D677Y;ENSG00000101773:ENST00000399722:exon14:c.G2029T:p.D677Y;ENSG00000101773:ENST00000583057:exon4:c.G373T:p.D125Y;ENSG00000101773:ENST00000360790:exon14:c.G2029T:p.D677Y;	0.999961737834153	0.998
18	20577584	A	C	18	22997621	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.A2030C:p.D677A;RBBP8:NM_203292:exon14:c.A2030C:p.D677A;RBBP8:NM_203291:exon14:c.A2030C:p.D677A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2030C:p.D677A;ENSG00000101773:ENST00000399725:exon14:c.A2030C:p.D677A;ENSG00000101773:ENST00000399722:exon14:c.A2030C:p.D677A;ENSG00000101773:ENST00000583057:exon4:c.A374C:p.D125A;ENSG00000101773:ENST00000360790:exon14:c.A2030C:p.D677A;	0.924545126641838	0.706
18	20577584	A	G	18	22997621	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.A2030G:p.D677G;RBBP8:NM_203292:exon14:c.A2030G:p.D677G;RBBP8:NM_203291:exon14:c.A2030G:p.D677G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2030G:p.D677G;ENSG00000101773:ENST00000399725:exon14:c.A2030G:p.D677G;ENSG00000101773:ENST00000399722:exon14:c.A2030G:p.D677G;ENSG00000101773:ENST00000583057:exon4:c.A374G:p.D125G;ENSG00000101773:ENST00000360790:exon14:c.A2030G:p.D677G;	0.930059007480197	0.594
18	20577584	A	T	18	22997621	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.A2030T:p.D677V;RBBP8:NM_203292:exon14:c.A2030T:p.D677V;RBBP8:NM_203291:exon14:c.A2030T:p.D677V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2030T:p.D677V;ENSG00000101773:ENST00000399725:exon14:c.A2030T:p.D677V;ENSG00000101773:ENST00000399722:exon14:c.A2030T:p.D677V;ENSG00000101773:ENST00000583057:exon4:c.A374T:p.D125V;ENSG00000101773:ENST00000360790:exon14:c.A2030T:p.D677V;	0.917229775798227	0.726
18	20577695	C	A	18	22997732	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon14:c.C2141A:p.S714X;RBBP8:NM_203292:exon14:c.C2141A:p.S714X;RBBP8:NM_203291:exon14:c.C2141A:p.S714X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon14:c.C2141A:p.S714X;ENSG00000101773:ENST00000399725:exon14:c.C2141A:p.S714X;ENSG00000101773:ENST00000399722:exon14:c.C2141A:p.S714X;ENSG00000101773:ENST00000583057:exon4:c.C485A:p.S162X;ENSG00000101773:ENST00000360790:exon14:c.C2141A:p.S714X;	0.967967985145733	0.838
18	20577695	C	G	18	22997732	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon14:c.C2141G:p.S714X;RBBP8:NM_203292:exon14:c.C2141G:p.S714X;RBBP8:NM_203291:exon14:c.C2141G:p.S714X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon14:c.C2141G:p.S714X;ENSG00000101773:ENST00000399725:exon14:c.C2141G:p.S714X;ENSG00000101773:ENST00000399722:exon14:c.C2141G:p.S714X;ENSG00000101773:ENST00000583057:exon4:c.C485G:p.S162X;ENSG00000101773:ENST00000360790:exon14:c.C2141G:p.S714X;	0.964128802784519	0.71
18	20577695	C	T	18	22997732	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.C2141T:p.S714L;RBBP8:NM_203292:exon14:c.C2141T:p.S714L;RBBP8:NM_203291:exon14:c.C2141T:p.S714L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.C2141T:p.S714L;ENSG00000101773:ENST00000399725:exon14:c.C2141T:p.S714L;ENSG00000101773:ENST00000399722:exon14:c.C2141T:p.S714L;ENSG00000101773:ENST00000583057:exon4:c.C485T:p.S162L;ENSG00000101773:ENST00000360790:exon14:c.C2141T:p.S714L;	0.999880757544868	0.954
18	20577696	A	C	18	22997733	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon14:c.A2142C:p.S714S;RBBP8:NM_203292:exon14:c.A2142C:p.S714S;RBBP8:NM_203291:exon14:c.A2142C:p.S714S;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2142C:p.S714S;ENSG00000101773:ENST00000399725:exon14:c.A2142C:p.S714S;ENSG00000101773:ENST00000399722:exon14:c.A2142C:p.S714S;ENSG00000101773:ENST00000583057:exon4:c.A486C:p.S162S;ENSG00000101773:ENST00000360790:exon14:c.A2142C:p.S714S;	0.895711389389355	0.748
18	20577696	A	G	18	22997733	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon14:c.A2142G:p.S714S;RBBP8:NM_203292:exon14:c.A2142G:p.S714S;RBBP8:NM_203291:exon14:c.A2142G:p.S714S;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2142G:p.S714S;ENSG00000101773:ENST00000399725:exon14:c.A2142G:p.S714S;ENSG00000101773:ENST00000399722:exon14:c.A2142G:p.S714S;ENSG00000101773:ENST00000583057:exon4:c.A486G:p.S162S;ENSG00000101773:ENST00000360790:exon14:c.A2142G:p.S714S;	0.854660840886848	0.672
18	20577696	A	T	18	22997733	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon14:c.A2142T:p.S714S;RBBP8:NM_203292:exon14:c.A2142T:p.S714S;RBBP8:NM_203291:exon14:c.A2142T:p.S714S;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2142T:p.S714S;ENSG00000101773:ENST00000399725:exon14:c.A2142T:p.S714S;ENSG00000101773:ENST00000399722:exon14:c.A2142T:p.S714S;ENSG00000101773:ENST00000583057:exon4:c.A486T:p.S162S;ENSG00000101773:ENST00000360790:exon14:c.A2142T:p.S714S;	0.985263997739218	0.862
18	20577697	A	C	18	22997734	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.A2143C:p.N715H;RBBP8:NM_203292:exon14:c.A2143C:p.N715H;RBBP8:NM_203291:exon14:c.A2143C:p.N715H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2143C:p.N715H;ENSG00000101773:ENST00000399725:exon14:c.A2143C:p.N715H;ENSG00000101773:ENST00000399722:exon14:c.A2143C:p.N715H;ENSG00000101773:ENST00000583057:exon4:c.A487C:p.N163H;ENSG00000101773:ENST00000360790:exon14:c.A2143C:p.M715L;	0.00208527277847461	0.042
18	20577697	A	G	18	22997734	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.A2143G:p.N715D;RBBP8:NM_203292:exon14:c.A2143G:p.N715D;RBBP8:NM_203291:exon14:c.A2143G:p.N715D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2143G:p.N715D;ENSG00000101773:ENST00000399725:exon14:c.A2143G:p.N715D;ENSG00000101773:ENST00000399722:exon14:c.A2143G:p.N715D;ENSG00000101773:ENST00000583057:exon4:c.A487G:p.N163D;ENSG00000101773:ENST00000360790:exon14:c.A2143G:p.M715V;	3.27702256569665E-4	0.08
18	20577697	A	T	18	22997734	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon14:c.A2143T:p.N715Y;RBBP8:NM_203292:exon14:c.A2143T:p.N715Y;RBBP8:NM_203291:exon14:c.A2143T:p.N715Y;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon14:c.A2143T:p.N715Y;ENSG00000101773:ENST00000399725:exon14:c.A2143T:p.N715Y;ENSG00000101773:ENST00000399722:exon14:c.A2143T:p.N715Y;ENSG00000101773:ENST00000583057:exon4:c.A487T:p.N163Y;ENSG00000101773:ENST00000360790:exon14:c.A2143T:p.M715L;	0.0146428502916479	0.178
18	20577698	G	A	18	22997735	y	y	splicing	RBBP8(NM_002894:exon14:c.2143+1G>A;NM_203292:exon14:c.2143+1G>A;NM_203291:exon14:c.2143+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2143+1G>A;ENST00000399722:exon14:c.2143+1G>A;ENST00000399725:exon14:c.2143+1G>A;ENST00000360790:exon14:c.2143+1G>A;ENST00000583057:exon4:c.487+1G>A)	.	.	0.999987124402133	0.936
18	20577698	G	C	18	22997735	y	y	splicing	RBBP8(NM_002894:exon14:c.2143+1G>C;NM_203292:exon14:c.2143+1G>C;NM_203291:exon14:c.2143+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2143+1G>C;ENST00000399722:exon14:c.2143+1G>C;ENST00000399725:exon14:c.2143+1G>C;ENST00000360790:exon14:c.2143+1G>C;ENST00000583057:exon4:c.487+1G>C)	.	.	0.999987124402133	0.936
18	20577698	G	T	18	22997735	y	y	splicing	RBBP8(NM_002894:exon14:c.2143+1G>T;NM_203292:exon14:c.2143+1G>T;NM_203291:exon14:c.2143+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2143+1G>T;ENST00000399722:exon14:c.2143+1G>T;ENST00000399725:exon14:c.2143+1G>T;ENST00000360790:exon14:c.2143+1G>T;ENST00000583057:exon4:c.487+1G>T)	.	.	0.999987124402133	0.936
18	20577699	T	A	18	22997736	y	y	splicing	RBBP8(NM_002894:exon14:c.2143+2T>A;NM_203292:exon14:c.2143+2T>A;NM_203291:exon14:c.2143+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2143+2T>A;ENST00000399722:exon14:c.2143+2T>A;ENST00000399725:exon14:c.2143+2T>A;ENST00000360790:exon14:c.2143+2T>A;ENST00000583057:exon4:c.487+2T>A)	.	.	0.999988247793601	0.932
18	20577699	T	C	18	22997736	y	y	splicing	RBBP8(NM_002894:exon14:c.2143+2T>C;NM_203292:exon14:c.2143+2T>C;NM_203291:exon14:c.2143+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2143+2T>C;ENST00000399722:exon14:c.2143+2T>C;ENST00000399725:exon14:c.2143+2T>C;ENST00000360790:exon14:c.2143+2T>C;ENST00000583057:exon4:c.487+2T>C)	.	.	0.997781565257106	0.724
18	20577699	T	G	18	22997736	y	y	splicing	RBBP8(NM_002894:exon14:c.2143+2T>G;NM_203292:exon14:c.2143+2T>G;NM_203291:exon14:c.2143+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon14:c.2143+2T>G;ENST00000399722:exon14:c.2143+2T>G;ENST00000399725:exon14:c.2143+2T>G;ENST00000360790:exon14:c.2143+2T>G;ENST00000583057:exon4:c.487+2T>G)	.	.	0.999988247793601	0.932
18	20577700	A	C	18	22997737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999835828445688	0.912
18	20577700	A	G	18	22997737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.834389777693577	0.618
18	20577700	A	T	18	22997737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999868841575251	0.954
18	20577701	A	C	18	22997738	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.876621880422775	0.54
18	20577701	A	G	18	22997738	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.991197898661274	0.722
18	20577701	A	T	18	22997738	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.988499938389081	0.702
18	20577702	G	A	18	22997739	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999907185960475	0.97
18	20577702	G	C	18	22997739	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999814347639383	0.962
18	20577702	G	T	18	22997739	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999976514824133	0.98
18	20577703	A	C	18	22997740	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0052066124613659	0.084
18	20577703	A	G	18	22997740	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.62419757846438E-4	0.0
18	20577703	A	T	18	22997740	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.65870271645643E-4	0.01
18	20577704	T	A	18	22997741	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.57491786523094E-4	0.012
18	20577704	T	C	18	22997741	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.19756607859203E-4	0.004
18	20577704	T	G	18	22997741	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.19756607859203E-4	0.012
18	20577705	C	A	18	22997742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.20180482106357E-5	0.0
18	20577705	C	G	18	22997742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.20180482106357E-5	0.0
18	20577705	C	T	18	22997742	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.4407429488679E-5	0.0
18	20581522	G	A	18	23001559	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.17528206778412E-4	0.062
18	20581522	G	C	18	23001559	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.71618342371667E-4	0.008
18	20581522	G	T	18	23001559	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.17528206778412E-4	0.02
18	20581523	C	A	18	23001560	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.3463471204399E-4	0.018
18	20581523	C	G	18	23001560	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.76953513816805E-4	0.008
18	20581523	C	T	18	23001560	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.3463471204399E-4	0.006
18	20581524	C	A	18	23001561	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.72053721565016E-5	0.026
18	20581524	C	G	18	23001561	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.72053721565016E-5	0.032
18	20581524	C	T	18	23001561	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.72053721565016E-5	0.028
18	20581525	C	A	18	23001562	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00292399054246924	0.09
18	20581525	C	G	18	23001562	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00200550157527051	0.056
18	20581525	C	T	18	23001562	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00343043191975311	0.128
18	20581526	T	A	18	23001563	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0074211786276047	0.024
18	20581526	T	C	18	23001563	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00727968153200452	0.016
18	20581526	T	G	18	23001563	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00727968153200452	0.016
18	20581527	A	C	18	23001564	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.39049976149096E-4	0.112
18	20581527	A	G	18	23001564	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.64725743080827E-4	0.04
18	20581527	A	T	18	23001564	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.84562490119969E-4	0.014
18	20581528	A	C	18	23001565	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00358846438385446	0.004
18	20581528	A	G	18	23001565	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00209400887994705	0.012
18	20581528	A	T	18	23001565	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0140092863278109	0.126
18	20581529	G	A	18	23001566	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.10531579277485E-4	0.008
18	20581529	G	C	18	23001566	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.96370687515085E-4	0.006
18	20581529	G	T	18	23001566	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.72656635931007E-4	0.01
18	20581530	C	A	18	23001567	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.03253796013994E-4	0.018
18	20581530	C	G	18	23001567	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00417628335728513	0.19
18	20581530	C	T	18	23001567	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.20416929344861E-4	0.082
18	20581531	C	A	18	23001568	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0035751565865652	0.106
18	20581531	C	G	18	23001568	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0016312190020154	0.058
18	20581531	C	T	18	23001568	n	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00750163728656166	0.062
18	20581532	A	C	18	23001569	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000360790:exon15:c.2144-2A>C)	.	.	2.32772693191553E-4	0.138
18	20581532	A	G	18	23001569	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000360790:exon15:c.2144-2A>G)	.	.	1.61492760376021E-4	0.116
18	20581532	A	T	18	23001569	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000360790:exon15:c.2144-2A>T)	.	.	9.06200761550624E-4	0.2
18	20581533	G	A	18	23001570	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000360790:exon15:c.2144-1G>A)	.	.	4.03630832812772E-5	0.082
18	20581533	G	C	18	23001570	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000360790:exon15:c.2144-1G>C)	.	.	9.76404204974175E-5	0.102
18	20581533	G	T	18	23001570	n	y	intronic	RBBP8	.	.	splicing	ENSG00000101773(ENST00000360790:exon15:c.2144-1G>T)	.	.	9.76404204974175E-5	0.084
18	20581534	T	A	18	23001571	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2144A:p.M715K;	0.497591950603062	0.504
18	20581534	T	C	18	23001571	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2144C:p.M715T;	0.00401129660219534	0.01
18	20581534	T	G	18	23001571	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2144G:p.M715R;	0.0169424753073374	0.128
18	20581535	G	A	18	23001572	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.G2145A:p.M715I;	0.0150198624766966	0.1
18	20581535	G	C	18	23001572	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.G2145C:p.M715I;	0.00324811284043933	0.044
18	20581535	G	T	18	23001572	n	y	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.G2145T:p.M715I;	2.43705021061164E-4	0.016
18	20581537	T	A	18	23001574	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2147A:p.L716H;	0.996836238149839	0.878
18	20581537	T	C	18	23001574	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2147C:p.L716P;	0.0271808624442091	0.184
18	20581537	T	G	18	23001574	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2147G:p.L716R;	0.975365213867199	0.832
18	20581538	C	A	18	23001575	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.C2148A:p.L716L;	0.00514137463248953	0.086
18	20581538	C	G	18	23001575	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.C2148G:p.L716L;	0.00520032919183763	0.098
18	20581538	C	T	18	23001575	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.C2148T:p.L716L;	3.71778556601455E-5	0.002
18	20581539	T	A	18	23001576	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2149A:p.F717I;	0.9959061943869	0.886
18	20581539	T	C	18	23001576	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2149C:p.F717L;	0.00194649374697717	0.112
18	20581539	T	G	18	23001576	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2149G:p.F717V;	0.948531673732462	0.64
18	20581540	T	A	18	23001577	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2150A:p.F717Y;	0.999741643166083	0.932
18	20581540	T	C	18	23001577	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2150C:p.F717S;	0.888079890452787	0.436
18	20581540	T	G	18	23001577	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2150G:p.F717C;	0.999712062797357	0.906
18	20581541	T	A	18	23001578	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2151A:p.F717L;	0.972741342209797	0.664
18	20581541	T	C	18	23001578	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2151C:p.F717F;	0.00100049503854436	0.066
18	20581541	T	G	18	23001578	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2151G:p.F717L;	0.919066552750809	0.48
18	20581542	T	A	18	23001579	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2152A:p.Y718N;	0.0430206188353256	0.262
18	20581542	T	C	18	23001579	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2152C:p.Y718H;	3.49316147173488E-5	0.088
18	20581542	T	G	18	23001579	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2152G:p.Y718D;	0.0372615225232895	0.258
18	20581543	A	C	18	23001580	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2153C:p.Y718S;	1.51772914799248E-4	0.086
18	20581543	A	G	18	23001580	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2153G:p.Y718C;	3.80622485717078E-4	0.028
18	20581543	A	T	18	23001580	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2153T:p.Y718F;	1.4473500766404E-4	0.098
18	20581544	C	A	18	23001581	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000360790:exon15:c.C2154A:p.Y718X;	6.60807687273331E-4	0.34
18	20581544	C	G	18	23001581	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000360790:exon15:c.C2154G:p.Y718X;	0.999989103338249	0.796
18	20581544	C	T	18	23001581	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.C2154T:p.Y718Y;	7.9640363022823E-5	0.002
18	20581545	A	C	18	23001582	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2155C:p.I719L;	4.12638561316804E-5	0.01
18	20581545	A	G	18	23001582	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2155G:p.I719V;	6.61579802212491E-4	0.158
18	20581545	A	T	18	23001582	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2155T:p.I719L;	0.00110229299431886	0.056
18	20581546	T	A	18	23001583	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2156A:p.I719K;	0.0147501250839406	0.4
18	20581546	T	C	18	23001583	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2156C:p.I719T;	6.02027712988104E-5	0.108
18	20581546	T	G	18	23001583	y	n	intronic	RBBP8	.	.	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.T2156G:p.I719R;	0.914147536765095	0.606
18	20581547	A	C	18	23001584	y	n	splicing	RBBP8(NM_002894:exon15:c.2144-2A>C;NM_203292:exon15:c.2144-2A>C;NM_203291:exon15:c.2144-2A>C)	.	.	exonic;splicing	ENSG00000101773;ENSG00000101773(ENST00000327155:exon15:c.2144-2A>C;ENST00000399722:exon15:c.2144-2A>C;ENST00000399725:exon15:c.2144-2A>C;ENST00000583057:exon5:c.488-2A>C)	synonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2157C:p.I719I;	0.999986741007567	0.946
18	20581547	A	G	18	23001584	y	n	splicing	RBBP8(NM_002894:exon15:c.2144-2A>G;NM_203292:exon15:c.2144-2A>G;NM_203291:exon15:c.2144-2A>G)	.	.	exonic;splicing	ENSG00000101773;ENSG00000101773(ENST00000327155:exon15:c.2144-2A>G;ENST00000399722:exon15:c.2144-2A>G;ENST00000399725:exon15:c.2144-2A>G;ENST00000583057:exon5:c.488-2A>G)	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2157G:p.I719M;	0.999986741007567	0.946
18	20581547	A	T	18	23001584	y	n	splicing	RBBP8(NM_002894:exon15:c.2144-2A>T;NM_203292:exon15:c.2144-2A>T;NM_203291:exon15:c.2144-2A>T)	.	.	exonic;splicing	ENSG00000101773;ENSG00000101773(ENST00000327155:exon15:c.2144-2A>T;ENST00000399722:exon15:c.2144-2A>T;ENST00000399725:exon15:c.2144-2A>T;ENST00000583057:exon5:c.488-2A>T)	synonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.A2157T:p.I719I;	0.999986741007567	0.946
18	20581548	G	A	18	23001585	y	n	splicing	RBBP8(NM_002894:exon15:c.2144-1G>A;NM_203292:exon15:c.2144-1G>A;NM_203291:exon15:c.2144-1G>A)	.	.	exonic;splicing	ENSG00000101773;ENSG00000101773(ENST00000327155:exon15:c.2144-1G>A;ENST00000399722:exon15:c.2144-1G>A;ENST00000399725:exon15:c.2144-1G>A;ENST00000583057:exon5:c.488-1G>A)	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.G2158A:p.D720N;	0.999989125585301	0.944
18	20581548	G	C	18	23001585	y	n	splicing	RBBP8(NM_002894:exon15:c.2144-1G>C;NM_203292:exon15:c.2144-1G>C;NM_203291:exon15:c.2144-1G>C)	.	.	exonic;splicing	ENSG00000101773;ENSG00000101773(ENST00000327155:exon15:c.2144-1G>C;ENST00000399722:exon15:c.2144-1G>C;ENST00000399725:exon15:c.2144-1G>C;ENST00000583057:exon5:c.488-1G>C)	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.G2158C:p.D720H;	0.999989125585301	0.936
18	20581548	G	T	18	23001585	y	n	splicing	RBBP8(NM_002894:exon15:c.2144-1G>T;NM_203292:exon15:c.2144-1G>T;NM_203291:exon15:c.2144-1G>T)	.	.	exonic;splicing	ENSG00000101773;ENSG00000101773(ENST00000327155:exon15:c.2144-1G>T;ENST00000399722:exon15:c.2144-1G>T;ENST00000399725:exon15:c.2144-1G>T;ENST00000583057:exon5:c.488-1G>T)	nonsynonymous SNV	ENSG00000101773:ENST00000360790:exon15:c.G2158T:p.D720Y;	0.999989125585301	0.944
18	20581549	A	C	18	23001586	y	n	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2144C:p.N715T;RBBP8:NM_203292:exon15:c.A2144C:p.N715T;RBBP8:NM_203291:exon15:c.A2144C:p.N715T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.A2144C:p.N715T;ENSG00000101773:ENST00000399725:exon15:c.A2144C:p.N715T;ENSG00000101773:ENST00000399722:exon15:c.A2144C:p.N715T;ENSG00000101773:ENST00000583057:exon5:c.A488C:p.N163T;ENSG00000101773:ENST00000360790:exon15:c.A2159C:p.D720A;	6.88269300161112E-4	0.156
18	20581549	A	G	18	23001586	y	n	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2144G:p.N715S;RBBP8:NM_203292:exon15:c.A2144G:p.N715S;RBBP8:NM_203291:exon15:c.A2144G:p.N715S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.A2144G:p.N715S;ENSG00000101773:ENST00000399725:exon15:c.A2144G:p.N715S;ENSG00000101773:ENST00000399722:exon15:c.A2144G:p.N715S;ENSG00000101773:ENST00000583057:exon5:c.A488G:p.N163S;ENSG00000101773:ENST00000360790:exon15:c.A2159G:p.D720G;	6.39870148807779E-5	0.02
18	20581549	A	T	18	23001586	y	n	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2144T:p.N715I;RBBP8:NM_203292:exon15:c.A2144T:p.N715I;RBBP8:NM_203291:exon15:c.A2144T:p.N715I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.A2144T:p.N715I;ENSG00000101773:ENST00000399725:exon15:c.A2144T:p.N715I;ENSG00000101773:ENST00000399722:exon15:c.A2144T:p.N715I;ENSG00000101773:ENST00000583057:exon5:c.A488T:p.N163I;ENSG00000101773:ENST00000360790:exon15:c.A2159T:p.D720V;	0.0038632538112474	0.126
18	20581550	T	A	18	23001587	y	n	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.T2145A:p.N715K;RBBP8:NM_203292:exon15:c.T2145A:p.N715K;RBBP8:NM_203291:exon15:c.T2145A:p.N715K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.T2145A:p.N715K;ENSG00000101773:ENST00000399725:exon15:c.T2145A:p.N715K;ENSG00000101773:ENST00000399722:exon15:c.T2145A:p.N715K;ENSG00000101773:ENST00000583057:exon5:c.T489A:p.N163K;ENSG00000101773:ENST00000360790:exon15:c.T2160A:p.D720E;	0.00281644261204942	0.106
18	20581550	T	C	18	23001587	y	n	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon15:c.T2145C:p.N715N;RBBP8:NM_203292:exon15:c.T2145C:p.N715N;RBBP8:NM_203291:exon15:c.T2145C:p.N715N;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.T2145C:p.N715N;ENSG00000101773:ENST00000399725:exon15:c.T2145C:p.N715N;ENSG00000101773:ENST00000399722:exon15:c.T2145C:p.N715N;ENSG00000101773:ENST00000583057:exon5:c.T489C:p.N163N;ENSG00000101773:ENST00000360790:exon15:c.T2160C:p.D720D;	5.34724570055769E-4	0.204
18	20581550	T	G	18	23001587	y	n	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.T2145G:p.N715K;RBBP8:NM_203292:exon15:c.T2145G:p.N715K;RBBP8:NM_203291:exon15:c.T2145G:p.N715K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.T2145G:p.N715K;ENSG00000101773:ENST00000399725:exon15:c.T2145G:p.N715K;ENSG00000101773:ENST00000399722:exon15:c.T2145G:p.N715K;ENSG00000101773:ENST00000583057:exon5:c.T489G:p.N163K;ENSG00000101773:ENST00000360790:exon15:c.T2160G:p.D720E;	0.00150109549101131	0.07
18	20581690	A	C	18	23001727	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2285C:p.H762P;RBBP8:NM_203292:exon15:c.A2285C:p.H762P;RBBP8:NM_203291:exon15:c.A2285C:p.H762P;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.A2285C:p.H762P;ENSG00000101773:ENST00000399725:exon15:c.A2285C:p.H762P;ENSG00000101773:ENST00000399722:exon15:c.A2285C:p.H762P;ENSG00000101773:ENST00000583057:exon5:c.A629C:p.H210P;ENSG00000101773:ENST00000360790:exon15:c.A2300C:p.H767P;	6.65036459783908E-5	0.008
18	20581690	A	G	18	23001727	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2285G:p.H762R;RBBP8:NM_203292:exon15:c.A2285G:p.H762R;RBBP8:NM_203291:exon15:c.A2285G:p.H762R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.A2285G:p.H762R;ENSG00000101773:ENST00000399725:exon15:c.A2285G:p.H762R;ENSG00000101773:ENST00000399722:exon15:c.A2285G:p.H762R;ENSG00000101773:ENST00000583057:exon5:c.A629G:p.H210R;ENSG00000101773:ENST00000360790:exon15:c.A2300G:p.H767R;	8.78760955359532E-4	0.088
18	20581690	A	T	18	23001727	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2285T:p.H762L;RBBP8:NM_203292:exon15:c.A2285T:p.H762L;RBBP8:NM_203291:exon15:c.A2285T:p.H762L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.A2285T:p.H762L;ENSG00000101773:ENST00000399725:exon15:c.A2285T:p.H762L;ENSG00000101773:ENST00000399722:exon15:c.A2285T:p.H762L;ENSG00000101773:ENST00000583057:exon5:c.A629T:p.H210L;ENSG00000101773:ENST00000360790:exon15:c.A2300T:p.H767L;	0.00364551941546787	0.212
18	20581691	C	A	18	23001728	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.C2286A:p.H762Q;RBBP8:NM_203292:exon15:c.C2286A:p.H762Q;RBBP8:NM_203291:exon15:c.C2286A:p.H762Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.C2286A:p.H762Q;ENSG00000101773:ENST00000399725:exon15:c.C2286A:p.H762Q;ENSG00000101773:ENST00000399722:exon15:c.C2286A:p.H762Q;ENSG00000101773:ENST00000583057:exon5:c.C630A:p.H210Q;ENSG00000101773:ENST00000360790:exon15:c.C2301A:p.H767Q;	6.78716194220949E-4	0.172
18	20581691	C	G	18	23001728	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.C2286G:p.H762Q;RBBP8:NM_203292:exon15:c.C2286G:p.H762Q;RBBP8:NM_203291:exon15:c.C2286G:p.H762Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.C2286G:p.H762Q;ENSG00000101773:ENST00000399725:exon15:c.C2286G:p.H762Q;ENSG00000101773:ENST00000399722:exon15:c.C2286G:p.H762Q;ENSG00000101773:ENST00000583057:exon5:c.C630G:p.H210Q;ENSG00000101773:ENST00000360790:exon15:c.C2301G:p.H767Q;	1.05567788874819E-4	0.014
18	20581691	C	T	18	23001728	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon15:c.C2286T:p.H762H;RBBP8:NM_203292:exon15:c.C2286T:p.H762H;RBBP8:NM_203291:exon15:c.C2286T:p.H762H;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.C2286T:p.H762H;ENSG00000101773:ENST00000399725:exon15:c.C2286T:p.H762H;ENSG00000101773:ENST00000399722:exon15:c.C2286T:p.H762H;ENSG00000101773:ENST00000583057:exon5:c.C630T:p.H210H;ENSG00000101773:ENST00000360790:exon15:c.C2301T:p.H767H;	0.0120242474341116	0.128
18	20581692	A	C	18	23001729	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2287C:p.T763P;RBBP8:NM_203292:exon15:c.A2287C:p.T763P;RBBP8:NM_203291:exon15:c.A2287C:p.T763P;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.A2287C:p.T763P;ENSG00000101773:ENST00000399725:exon15:c.A2287C:p.T763P;ENSG00000101773:ENST00000399722:exon15:c.A2287C:p.T763P;ENSG00000101773:ENST00000583057:exon5:c.A631C:p.K211Q;ENSG00000101773:ENST00000360790:exon15:c.A2302C:p.T768P;	3.97823561995526E-5	0.052
18	20581692	A	G	18	23001729	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2287G:p.T763A;RBBP8:NM_203292:exon15:c.A2287G:p.T763A;RBBP8:NM_203291:exon15:c.A2287G:p.T763A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon15:c.A2287G:p.T763A;ENSG00000101773:ENST00000399725:exon15:c.A2287G:p.T763A;ENSG00000101773:ENST00000399722:exon15:c.A2287G:p.T763A;ENSG00000101773:ENST00000583057:exon5:c.A631G:p.K211E;ENSG00000101773:ENST00000360790:exon15:c.A2302G:p.T768A;	1.36525045297626E-4	0.048
18	20581692	A	T	18	23001729	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon15:c.A2287T:p.T763S;RBBP8:NM_203292:exon15:c.A2287T:p.T763S;RBBP8:NM_203291:exon15:c.A2287T:p.T763S;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000583057:exon5:c.A631T:p.K211X;	1.48976804347705E-4	0.14
18	20581693	G	A	18	23001730	y	y	splicing	RBBP8(NM_002894:exon15:c.2287+1G>A;NM_203292:exon15:c.2287+1G>A;NM_203291:exon15:c.2287+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon15:c.2287+1G>A;ENST00000399722:exon15:c.2287+1G>A;ENST00000399725:exon15:c.2287+1G>A;ENST00000360790:exon15:c.2302+1G>A;ENST00000583057:exon5:c.631+1G>A)	.	.	0.999977162774916	0.892
18	20581693	G	C	18	23001730	y	y	splicing	RBBP8(NM_002894:exon15:c.2287+1G>C;NM_203292:exon15:c.2287+1G>C;NM_203291:exon15:c.2287+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon15:c.2287+1G>C;ENST00000399722:exon15:c.2287+1G>C;ENST00000399725:exon15:c.2287+1G>C;ENST00000360790:exon15:c.2302+1G>C;ENST00000583057:exon5:c.631+1G>C)	.	.	0.999974785031454	0.866
18	20581693	G	T	18	23001730	y	y	splicing	RBBP8(NM_002894:exon15:c.2287+1G>T;NM_203292:exon15:c.2287+1G>T;NM_203291:exon15:c.2287+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon15:c.2287+1G>T;ENST00000399722:exon15:c.2287+1G>T;ENST00000399725:exon15:c.2287+1G>T;ENST00000360790:exon15:c.2302+1G>T;ENST00000583057:exon5:c.631+1G>T)	.	.	0.999974785031454	0.884
18	20581694	T	A	18	23001731	y	y	splicing	RBBP8(NM_002894:exon15:c.2287+2T>A;NM_203292:exon15:c.2287+2T>A;NM_203291:exon15:c.2287+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon15:c.2287+2T>A;ENST00000399722:exon15:c.2287+2T>A;ENST00000399725:exon15:c.2287+2T>A;ENST00000360790:exon15:c.2302+2T>A;ENST00000583057:exon5:c.631+2T>A)	.	.	0.999951957019574	0.908
18	20581694	T	C	18	23001731	y	y	splicing	RBBP8(NM_002894:exon15:c.2287+2T>C;NM_203292:exon15:c.2287+2T>C;NM_203291:exon15:c.2287+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon15:c.2287+2T>C;ENST00000399722:exon15:c.2287+2T>C;ENST00000399725:exon15:c.2287+2T>C;ENST00000360790:exon15:c.2302+2T>C;ENST00000583057:exon5:c.631+2T>C)	.	.	0.999777348398491	0.818
18	20581694	T	G	18	23001731	y	y	splicing	RBBP8(NM_002894:exon15:c.2287+2T>G;NM_203292:exon15:c.2287+2T>G;NM_203291:exon15:c.2287+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon15:c.2287+2T>G;ENST00000399722:exon15:c.2287+2T>G;ENST00000399725:exon15:c.2287+2T>G;ENST00000360790:exon15:c.2302+2T>G;ENST00000583057:exon5:c.631+2T>G)	.	.	0.999971317418422	0.916
18	20581695	A	C	18	23001732	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999647144157311	0.87
18	20581695	A	G	18	23001732	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.97502498362804	0.578
18	20581695	A	T	18	23001732	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999503747490837	0.894
18	20581696	A	C	18	23001733	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996951909422726	0.79
18	20581696	A	G	18	23001733	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999015165336025	0.874
18	20581696	A	T	18	23001733	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.992113840536205	0.824
18	20581697	G	A	18	23001734	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999963192799874	1.0
18	20581697	G	C	18	23001734	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999986092769337	0.982
18	20581697	G	T	18	23001734	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999980614581586	0.986
18	20581698	A	C	18	23001735	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.95345295676168E-5	0.046
18	20581698	A	G	18	23001735	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.01359175547287E-5	0.002
18	20581698	A	T	18	23001735	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.3242228570282E-5	0.026
18	20581699	T	A	18	23001736	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.84802692626583E-5	0.006
18	20581699	T	C	18	23001736	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.5447894133476E-5	0.002
18	20581699	T	G	18	23001736	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.50088341822886E-5	0.0
18	20581700	T	A	18	23001737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00114358519305259	0.014
18	20581700	T	C	18	23001737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00664149974646461	0.018
18	20581700	T	G	18	23001737	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.89842938507458E-4	0.004
18	20586314	T	A	18	23006351	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.104778640487519	0.34
18	20586314	T	C	18	23006351	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.70967301250611E-4	0.002
18	20586314	T	G	18	23006351	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0569961566598326	0.236
18	20586315	T	A	18	23006352	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.615937923499201	0.648
18	20586315	T	C	18	23006352	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00508356767050005	0.186
18	20586315	T	G	18	23006352	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.768286494590569	0.614
18	20586316	T	A	18	23006353	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0412535185839562	0.532
18	20586316	T	C	18	23006353	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00174015786302621	0.226
18	20586316	T	G	18	23006353	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0555815456234276	0.5
18	20586317	T	A	18	23006354	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.662443662330071	0.764
18	20586317	T	C	18	23006354	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.88949289245109E-4	0.102
18	20586317	T	G	18	23006354	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.920883055713319	0.762
18	20586318	A	C	18	23006355	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.56417394643002E-5	0.0
18	20586318	A	G	18	23006355	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.76092092026777E-5	0.0
18	20586318	A	T	18	23006355	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.56417394643002E-5	0.0
18	20586319	T	A	18	23006356	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00799125525075768	0.042
18	20586319	T	C	18	23006356	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.16407356016491E-4	0.03
18	20586319	T	G	18	23006356	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999842628082921	0.994
18	20586320	T	A	18	23006357	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0336745079072318	0.292
18	20586320	T	C	18	23006357	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.26421298666196E-5	0.008
18	20586320	T	G	18	23006357	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0434322282663379	0.378
18	20586321	T	A	18	23006358	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.435384811147758	0.432
18	20586321	T	C	18	23006358	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00376605071502405	0.092
18	20586321	T	G	18	23006358	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.380239456894962	0.474
18	20586322	A	C	18	23006359	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.775499973684E-4	0.004
18	20586322	A	G	18	23006359	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00194554294472523	0.124
18	20586322	A	T	18	23006359	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.77168622479255E-5	0.004
18	20586323	T	A	18	23006360	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00177153122712167	0.15
18	20586323	T	C	18	23006360	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	8.5342192466844E-5	0.0
18	20586323	T	G	18	23006360	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.900236163562672	0.656
18	20586324	A	C	18	23006361	y	y	splicing	RBBP8(NM_002894:exon16:c.2288-2A>C;NM_203292:exon16:c.2288-2A>C;NM_203291:exon16:c.2288-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2288-2A>C;ENST00000399722:exon16:c.2288-2A>C;ENST00000399725:exon16:c.2288-2A>C;ENST00000360790:exon16:c.2303-2A>C)	.	.	0.999966514958823	0.946
18	20586324	A	G	18	23006361	y	y	splicing	RBBP8(NM_002894:exon16:c.2288-2A>G;NM_203292:exon16:c.2288-2A>G;NM_203291:exon16:c.2288-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2288-2A>G;ENST00000399722:exon16:c.2288-2A>G;ENST00000399725:exon16:c.2288-2A>G;ENST00000360790:exon16:c.2303-2A>G)	.	.	0.999966514958823	0.946
18	20586324	A	T	18	23006361	y	y	splicing	RBBP8(NM_002894:exon16:c.2288-2A>T;NM_203292:exon16:c.2288-2A>T;NM_203291:exon16:c.2288-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2288-2A>T;ENST00000399722:exon16:c.2288-2A>T;ENST00000399725:exon16:c.2288-2A>T;ENST00000360790:exon16:c.2303-2A>T)	.	.	0.999966203349492	0.944
18	20586325	G	A	18	23006362	y	y	splicing	RBBP8(NM_002894:exon16:c.2288-1G>A;NM_203292:exon16:c.2288-1G>A;NM_203291:exon16:c.2288-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2288-1G>A;ENST00000399722:exon16:c.2288-1G>A;ENST00000399725:exon16:c.2288-1G>A;ENST00000360790:exon16:c.2303-1G>A)	.	.	0.999938422912956	0.956
18	20586325	G	C	18	23006362	y	y	splicing	RBBP8(NM_002894:exon16:c.2288-1G>C;NM_203292:exon16:c.2288-1G>C;NM_203291:exon16:c.2288-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2288-1G>C;ENST00000399722:exon16:c.2288-1G>C;ENST00000399725:exon16:c.2288-1G>C;ENST00000360790:exon16:c.2303-1G>C)	.	.	0.999938990645747	0.956
18	20586325	G	T	18	23006362	y	y	splicing	RBBP8(NM_002894:exon16:c.2288-1G>T;NM_203292:exon16:c.2288-1G>T;NM_203291:exon16:c.2288-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2288-1G>T;ENST00000399722:exon16:c.2288-1G>T;ENST00000399725:exon16:c.2288-1G>T;ENST00000360790:exon16:c.2303-1G>T)	.	.	0.999938422912956	0.956
18	20586326	C	A	18	23006363	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.C2288A:p.T763N;RBBP8:NM_203292:exon16:c.C2288A:p.T763N;RBBP8:NM_203291:exon16:c.C2288A:p.T763N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.C2288A:p.T763N;ENSG00000101773:ENST00000399725:exon16:c.C2288A:p.T763N;ENSG00000101773:ENST00000399722:exon16:c.C2288A:p.T763N;ENSG00000101773:ENST00000360790:exon16:c.C2303A:p.T768N;	2.16964624642857E-5	0.0
18	20586326	C	G	18	23006363	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.C2288G:p.T763S;RBBP8:NM_203292:exon16:c.C2288G:p.T763S;RBBP8:NM_203291:exon16:c.C2288G:p.T763S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.C2288G:p.T763S;ENSG00000101773:ENST00000399725:exon16:c.C2288G:p.T763S;ENSG00000101773:ENST00000399722:exon16:c.C2288G:p.T763S;ENSG00000101773:ENST00000360790:exon16:c.C2303G:p.T768S;	4.96314192819999E-5	0.074
18	20586326	C	T	18	23006363	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.C2288T:p.T763I;RBBP8:NM_203292:exon16:c.C2288T:p.T763I;RBBP8:NM_203291:exon16:c.C2288T:p.T763I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.C2288T:p.T763I;ENSG00000101773:ENST00000399725:exon16:c.C2288T:p.T763I;ENSG00000101773:ENST00000399722:exon16:c.C2288T:p.T763I;ENSG00000101773:ENST00000360790:exon16:c.C2303T:p.T768I;	5.39313957091321E-5	0.008
18	20586327	T	A	18	23006364	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon16:c.T2289A:p.T763T;RBBP8:NM_203292:exon16:c.T2289A:p.T763T;RBBP8:NM_203291:exon16:c.T2289A:p.T763T;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.T2289A:p.T763T;ENSG00000101773:ENST00000399725:exon16:c.T2289A:p.T763T;ENSG00000101773:ENST00000399722:exon16:c.T2289A:p.T763T;ENSG00000101773:ENST00000360790:exon16:c.T2304A:p.T768T;	6.7242678267975E-4	0.146
18	20586327	T	C	18	23006364	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon16:c.T2289C:p.T763T;RBBP8:NM_203292:exon16:c.T2289C:p.T763T;RBBP8:NM_203291:exon16:c.T2289C:p.T763T;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.T2289C:p.T763T;ENSG00000101773:ENST00000399725:exon16:c.T2289C:p.T763T;ENSG00000101773:ENST00000399722:exon16:c.T2289C:p.T763T;ENSG00000101773:ENST00000360790:exon16:c.T2304C:p.T768T;	8.56367161749852E-4	0.106
18	20586327	T	G	18	23006364	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon16:c.T2289G:p.T763T;RBBP8:NM_203292:exon16:c.T2289G:p.T763T;RBBP8:NM_203291:exon16:c.T2289G:p.T763T;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.T2289G:p.T763T;ENSG00000101773:ENST00000399725:exon16:c.T2289G:p.T763T;ENSG00000101773:ENST00000399722:exon16:c.T2289G:p.T763T;ENSG00000101773:ENST00000360790:exon16:c.T2304G:p.T768T;	2.71548155943632E-4	0.072
18	20586393	A	C	18	23006430	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.A2355C:p.E785D;RBBP8:NM_203292:exon16:c.A2355C:p.E785D;RBBP8:NM_203291:exon16:c.A2355C:p.E785D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.A2355C:p.E785D;ENSG00000101773:ENST00000399725:exon16:c.A2355C:p.E785D;ENSG00000101773:ENST00000399722:exon16:c.A2355C:p.E785D;ENSG00000101773:ENST00000360790:exon16:c.A2370C:p.E790D;	5.87233623570017E-4	0.0
18	20586393	A	G	18	23006430	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon16:c.A2355G:p.E785E;RBBP8:NM_203292:exon16:c.A2355G:p.E785E;RBBP8:NM_203291:exon16:c.A2355G:p.E785E;	exonic	ENSG00000101773	synonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.A2355G:p.E785E;ENSG00000101773:ENST00000399725:exon16:c.A2355G:p.E785E;ENSG00000101773:ENST00000399722:exon16:c.A2355G:p.E785E;ENSG00000101773:ENST00000360790:exon16:c.A2370G:p.E790E;	2.9448978896778E-4	0.006
18	20586393	A	T	18	23006430	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.A2355T:p.E785D;RBBP8:NM_203292:exon16:c.A2355T:p.E785D;RBBP8:NM_203291:exon16:c.A2355T:p.E785D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.A2355T:p.E785D;ENSG00000101773:ENST00000399725:exon16:c.A2355T:p.E785D;ENSG00000101773:ENST00000399722:exon16:c.A2355T:p.E785D;ENSG00000101773:ENST00000360790:exon16:c.A2370T:p.E790D;	0.0112585250529106	0.166
18	20586394	A	C	18	23006431	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_203292:exon16:c.A2356C:p.S786R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000399725:exon16:c.A2356C:p.S786R;	0.080958543094618	0.382
18	20586394	A	G	18	23006431	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.A2356G:p.R786G;RBBP8:NM_203292:exon16:c.A2356G:p.S786G;RBBP8:NM_203291:exon16:c.A2356G:p.R786G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.A2356G:p.R786G;ENSG00000101773:ENST00000399725:exon16:c.A2356G:p.S786G;ENSG00000101773:ENST00000399722:exon16:c.A2356G:p.R786G;ENSG00000101773:ENST00000360790:exon16:c.A2371G:p.R791G;	0.847598565760198	0.6
18	20586394	A	T	18	23006431	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon16:c.A2356T:p.R786X;RBBP8:NM_203291:exon16:c.A2356T:p.R786X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon16:c.A2356T:p.R786X;ENSG00000101773:ENST00000399722:exon16:c.A2356T:p.R786X;ENSG00000101773:ENST00000360790:exon16:c.A2371T:p.R791X;	0.988126327844124	0.49
18	20586395	G	A	18	23006432	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.G2357A:p.R786K;RBBP8:NM_203292:exon16:c.G2357A:p.S786N;RBBP8:NM_203291:exon16:c.G2357A:p.R786K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.G2357A:p.R786K;ENSG00000101773:ENST00000399725:exon16:c.G2357A:p.S786N;ENSG00000101773:ENST00000399722:exon16:c.G2357A:p.R786K;ENSG00000101773:ENST00000360790:exon16:c.G2372A:p.R791K;	0.49097273691035	0.572
18	20586395	G	C	18	23006432	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.G2357C:p.R786T;RBBP8:NM_203292:exon16:c.G2357C:p.S786T;RBBP8:NM_203291:exon16:c.G2357C:p.R786T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.G2357C:p.R786T;ENSG00000101773:ENST00000399725:exon16:c.G2357C:p.S786T;ENSG00000101773:ENST00000399722:exon16:c.G2357C:p.R786T;ENSG00000101773:ENST00000360790:exon16:c.G2372C:p.R791T;	0.804535104293608	0.536
18	20586395	G	T	18	23006432	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon16:c.G2357T:p.R786I;RBBP8:NM_203292:exon16:c.G2357T:p.S786I;RBBP8:NM_203291:exon16:c.G2357T:p.R786I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon16:c.G2357T:p.R786I;ENSG00000101773:ENST00000399725:exon16:c.G2357T:p.S786I;ENSG00000101773:ENST00000399722:exon16:c.G2357T:p.R786I;ENSG00000101773:ENST00000360790:exon16:c.G2372T:p.R791I;	0.870431499467372	0.728
18	20586396	G	A	18	23006433	y	y	splicing	RBBP8(NM_002894:exon16:c.2357+1G>A;NM_203292:exon16:c.2357+1G>A;NM_203291:exon16:c.2357+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2357+1G>A;ENST00000399722:exon16:c.2357+1G>A;ENST00000399725:exon16:c.2357+1G>A;ENST00000360790:exon16:c.2372+1G>A)	.	.	0.999972132855453	0.948
18	20586396	G	C	18	23006433	y	y	splicing	RBBP8(NM_002894:exon16:c.2357+1G>C;NM_203292:exon16:c.2357+1G>C;NM_203291:exon16:c.2357+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2357+1G>C;ENST00000399722:exon16:c.2357+1G>C;ENST00000399725:exon16:c.2357+1G>C;ENST00000360790:exon16:c.2372+1G>C)	.	.	0.999972132855453	0.926
18	20586396	G	T	18	23006433	y	y	splicing	RBBP8(NM_002894:exon16:c.2357+1G>T;NM_203292:exon16:c.2357+1G>T;NM_203291:exon16:c.2357+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2357+1G>T;ENST00000399722:exon16:c.2357+1G>T;ENST00000399725:exon16:c.2357+1G>T;ENST00000360790:exon16:c.2372+1G>T)	.	.	0.999972132855453	0.946
18	20586397	T	A	18	23006434	y	y	splicing	RBBP8(NM_002894:exon16:c.2357+2T>A;NM_203292:exon16:c.2357+2T>A;NM_203291:exon16:c.2357+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2357+2T>A;ENST00000399722:exon16:c.2357+2T>A;ENST00000399725:exon16:c.2357+2T>A;ENST00000360790:exon16:c.2372+2T>A)	.	.	0.999939583170295	0.938
18	20586397	T	C	18	23006434	y	y	splicing	RBBP8(NM_002894:exon16:c.2357+2T>C;NM_203292:exon16:c.2357+2T>C;NM_203291:exon16:c.2357+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2357+2T>C;ENST00000399722:exon16:c.2357+2T>C;ENST00000399725:exon16:c.2357+2T>C;ENST00000360790:exon16:c.2372+2T>C)	.	.	0.954621370092002	0.584
18	20586397	T	G	18	23006434	y	y	splicing	RBBP8(NM_002894:exon16:c.2357+2T>G;NM_203292:exon16:c.2357+2T>G;NM_203291:exon16:c.2357+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon16:c.2357+2T>G;ENST00000399722:exon16:c.2357+2T>G;ENST00000399725:exon16:c.2357+2T>G;ENST00000360790:exon16:c.2372+2T>G)	.	.	0.999939583170295	0.934
18	20586398	A	C	18	23006435	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.931364044916765	0.576
18	20586398	A	G	18	23006435	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0290997598839183	0.136
18	20586398	A	T	18	23006435	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.886693252000186	0.63
18	20586399	A	C	18	23006436	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0462478392323359	0.274
18	20586399	A	G	18	23006436	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0464749807005015	0.374
18	20586399	A	T	18	23006436	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0372600079705729	0.3
18	20586400	G	A	18	23006437	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.483632150901983	0.544
18	20586400	G	C	18	23006437	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.402472701251617	0.51
18	20586400	G	T	18	23006437	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.441544686774616	0.53
18	20586401	T	A	18	23006438	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0201205860701844	0.342
18	20586401	T	C	18	23006438	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.121762691557078	0.34
18	20586401	T	G	18	23006438	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0107225559780369	0.262
18	20586402	T	A	18	23006439	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.2709332397549E-4	0.0
18	20586402	T	C	18	23006439	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.12869275217467E-5	0.0
18	20586402	T	G	18	23006439	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.12869275217467E-5	0.0
18	20586403	G	A	18	23006440	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.07605027205196E-4	0.006
18	20586403	G	C	18	23006440	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.30343122062895E-4	0.01
18	20586403	G	T	18	23006440	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.30343122062895E-4	0.016
18	20596779	T	A	18	23016816	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.341048564487485	0.452
18	20596779	T	C	18	23016816	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0391077433901916	0.332
18	20596779	T	G	18	23016816	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.999902916279492	0.936
18	20596780	T	A	18	23016817	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0655383971796815	0.322
18	20596780	T	C	18	23016817	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0021108591553593	0.096
18	20596780	T	G	18	23016817	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0284203147049955	0.312
18	20596781	T	A	18	23016818	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0857251054010052	0.304
18	20596781	T	C	18	23016818	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	3.89913776906343E-4	0.036
18	20596781	T	G	18	23016818	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0220482644042422	0.142
18	20596782	T	A	18	23016819	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.312912456995271	0.446
18	20596782	T	C	18	23016819	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0336413570746527	0.334
18	20596782	T	G	18	23016819	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.312912456995271	0.39
18	20596783	T	A	18	23016820	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00100536934313617	0.106
18	20596783	T	C	18	23016820	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.1573925903171E-5	0.03
18	20596783	T	G	18	23016820	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	7.44869204735281E-4	0.092
18	20596784	C	A	18	23016821	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00987171336331869	0.134
18	20596784	C	G	18	23016821	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0174778869120766	0.144
18	20596784	C	T	18	23016821	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.34979367787573E-4	0.0
18	20596785	C	A	18	23016822	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0428993614346101	0.212
18	20596785	C	G	18	23016822	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.0740300204084478	0.25
18	20596785	C	T	18	23016822	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.64317409073577E-4	0.056
18	20596786	C	A	18	23016823	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00977992043683277	0.076
18	20596786	C	G	18	23016823	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00952361296862967	0.142
18	20596786	C	T	18	23016823	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	4.03637854259143E-5	0.008
18	20596787	C	A	18	23016824	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	6.7389672858269E-5	0.004
18	20596787	C	G	18	23016824	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.47873950586242E-4	0.0
18	20596787	C	T	18	23016824	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	1.21680512160577E-4	0.004
18	20596788	C	A	18	23016825	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.98549098886912	0.656
18	20596788	C	G	18	23016825	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.999750754128853	0.934
18	20596788	C	T	18	23016825	y	y	intronic	RBBP8	.	.	UTR5	ENSG00000101773	.	.	0.00193765307704968	0.034
18	20596789	A	C	18	23016826	y	y	splicing	RBBP8(NM_002894:exon17:c.2358-2A>C;NM_203291:exon17:c.2358-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2358-2A>C;ENST00000399722:exon17:c.2358-2A>C;ENST00000360790:exon17:c.2373-2A>C;ENST00000583057:exon6:c.632-2A>C)	.	.	0.999989917668626	0.926
18	20596789	A	G	18	23016826	y	y	splicing	RBBP8(NM_002894:exon17:c.2358-2A>G;NM_203291:exon17:c.2358-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2358-2A>G;ENST00000399722:exon17:c.2358-2A>G;ENST00000360790:exon17:c.2373-2A>G;ENST00000583057:exon6:c.632-2A>G)	.	.	0.999989917668626	0.926
18	20596789	A	T	18	23016826	y	y	splicing	RBBP8(NM_002894:exon17:c.2358-2A>T;NM_203291:exon17:c.2358-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2358-2A>T;ENST00000399722:exon17:c.2358-2A>T;ENST00000360790:exon17:c.2373-2A>T;ENST00000583057:exon6:c.632-2A>T)	.	.	0.999989917668626	0.926
18	20596790	G	A	18	23016827	y	y	splicing	RBBP8(NM_002894:exon17:c.2358-1G>A;NM_203291:exon17:c.2358-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2358-1G>A;ENST00000399722:exon17:c.2358-1G>A;ENST00000360790:exon17:c.2373-1G>A;ENST00000583057:exon6:c.632-1G>A)	.	.	0.999981760802075	0.942
18	20596790	G	C	18	23016827	y	y	splicing	RBBP8(NM_002894:exon17:c.2358-1G>C;NM_203291:exon17:c.2358-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2358-1G>C;ENST00000399722:exon17:c.2358-1G>C;ENST00000360790:exon17:c.2373-1G>C;ENST00000583057:exon6:c.632-1G>C)	.	.	0.999981760802075	0.942
18	20596790	G	T	18	23016827	y	y	splicing	RBBP8(NM_002894:exon17:c.2358-1G>T;NM_203291:exon17:c.2358-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2358-1G>T;ENST00000399722:exon17:c.2358-1G>T;ENST00000360790:exon17:c.2373-1G>T;ENST00000583057:exon6:c.632-1G>T)	.	.	0.999981760802075	0.942
18	20596791	A	C	18	23016828	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.A2358C:p.R786S;RBBP8:NM_203291:exon17:c.A2358C:p.R786S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.A2358C:p.R786S;ENSG00000101773:ENST00000399722:exon17:c.A2358C:p.R786S;ENSG00000101773:ENST00000583057:exon6:c.A632C:p.K211T;ENSG00000101773:ENST00000360790:exon17:c.A2373C:p.R791S;	0.0259927613535465	0.17
18	20596791	A	G	18	23016828	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon17:c.A2358G:p.R786R;RBBP8:NM_203291:exon17:c.A2358G:p.R786R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000583057:exon6:c.A632G:p.K211R;	2.10107642477503E-4	0.0
18	20596791	A	T	18	23016828	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.A2358T:p.R786S;RBBP8:NM_203291:exon17:c.A2358T:p.R786S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.A2358T:p.R786S;ENSG00000101773:ENST00000399722:exon17:c.A2358T:p.R786S;ENSG00000101773:ENST00000583057:exon6:c.A632T:p.K211M;ENSG00000101773:ENST00000360790:exon17:c.A2373T:p.R791S;	0.0335295094652823	0.144
18	20596792	G	A	18	23016829	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.G2359A:p.E787K;RBBP8:NM_203291:exon17:c.G2359A:p.E787K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.G2359A:p.E787K;ENSG00000101773:ENST00000399722:exon17:c.G2359A:p.E787K;ENSG00000101773:ENST00000360790:exon17:c.G2374A:p.E792K;	1.72598405456885E-4	0.022
18	20596792	G	C	18	23016829	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.G2359C:p.E787Q;RBBP8:NM_203291:exon17:c.G2359C:p.E787Q;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.G2359C:p.E787Q;ENSG00000101773:ENST00000399722:exon17:c.G2359C:p.E787Q;ENSG00000101773:ENST00000583057:exon6:c.G633C:p.K211N;ENSG00000101773:ENST00000360790:exon17:c.G2374C:p.E792Q;	4.34050344019303E-4	0.026
18	20596792	G	T	18	23016829	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_002894:exon17:c.G2359T:p.E787X;RBBP8:NM_203291:exon17:c.G2359T:p.E787X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000327155:exon17:c.G2359T:p.E787X;ENSG00000101773:ENST00000399722:exon17:c.G2359T:p.E787X;ENSG00000101773:ENST00000360790:exon17:c.G2374T:p.E792X;	0.117452456169164	0.512
18	20596885	A	C	18	23016922	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.A2452C:p.I818L;RBBP8:NM_203291:exon17:c.A2452C:p.I818L;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.A2452C:p.I818L;ENSG00000101773:ENST00000399722:exon17:c.A2452C:p.I818L;ENSG00000101773:ENST00000583057:exon6:c.A726C:p.K242N;ENSG00000101773:ENST00000360790:exon17:c.A2467C:p.I823L;	0.00731386169947064	0.098
18	20596885	A	G	18	23016922	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.A2452G:p.I818V;RBBP8:NM_203291:exon17:c.A2452G:p.I818V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.A2452G:p.I818V;ENSG00000101773:ENST00000399722:exon17:c.A2452G:p.I818V;ENSG00000101773:ENST00000360790:exon17:c.A2467G:p.I823V;	0.025773872908949	0.044
18	20596885	A	T	18	23016922	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.A2452T:p.I818F;RBBP8:NM_203291:exon17:c.A2452T:p.I818F;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.A2452T:p.I818F;ENSG00000101773:ENST00000399722:exon17:c.A2452T:p.I818F;ENSG00000101773:ENST00000583057:exon6:c.A726T:p.K242N;ENSG00000101773:ENST00000360790:exon17:c.A2467T:p.I823F;	0.289899952769513	0.392
18	20596886	T	A	18	23016923	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.T2453A:p.I818N;RBBP8:NM_203291:exon17:c.T2453A:p.I818N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.T2453A:p.I818N;ENSG00000101773:ENST00000399722:exon17:c.T2453A:p.I818N;ENSG00000101773:ENST00000583057:exon6:c.T727A:p.F243I;ENSG00000101773:ENST00000360790:exon17:c.T2468A:p.I823N;	0.602609824398427	0.686
18	20596886	T	C	18	23016923	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.T2453C:p.I818T;RBBP8:NM_203291:exon17:c.T2453C:p.I818T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.T2453C:p.I818T;ENSG00000101773:ENST00000399722:exon17:c.T2453C:p.I818T;ENSG00000101773:ENST00000583057:exon6:c.T727C:p.F243L;ENSG00000101773:ENST00000360790:exon17:c.T2468C:p.I823T;	0.750155987387573	0.714
18	20596886	T	G	18	23016923	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.T2453G:p.I818S;RBBP8:NM_203291:exon17:c.T2453G:p.I818S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.T2453G:p.I818S;ENSG00000101773:ENST00000399722:exon17:c.T2453G:p.I818S;ENSG00000101773:ENST00000583057:exon6:c.T727G:p.F243V;ENSG00000101773:ENST00000360790:exon17:c.T2468G:p.I823S;	0.962643448428269	0.892
18	20596887	T	A	18	23016924	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon17:c.T2454A:p.I818I;RBBP8:NM_203291:exon17:c.T2454A:p.I818I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000583057:exon6:c.T728A:p.F243Y;	0.00474424563846069	0.024
18	20596887	T	C	18	23016924	y	y	exonic	RBBP8	synonymous SNV	RBBP8:NM_002894:exon17:c.T2454C:p.I818I;RBBP8:NM_203291:exon17:c.T2454C:p.I818I;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000583057:exon6:c.T728C:p.F243S;	0.0122811840987386	0.238
18	20596887	T	G	18	23016924	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon17:c.T2454G:p.I818M;RBBP8:NM_203291:exon17:c.T2454G:p.I818M;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon17:c.T2454G:p.I818M;ENSG00000101773:ENST00000399722:exon17:c.T2454G:p.I818M;ENSG00000101773:ENST00000583057:exon6:c.T728G:p.F243C;ENSG00000101773:ENST00000360790:exon17:c.T2469G:p.I823M;	0.0516313023684533	0.264
18	20596888	G	A	18	23016925	y	y	splicing	RBBP8(NM_002894:exon17:c.2454+1G>A;NM_203291:exon17:c.2454+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2454+1G>A;ENST00000399722:exon17:c.2454+1G>A;ENST00000360790:exon17:c.2469+1G>A;ENST00000583057:exon6:c.728+1G>A)	.	.	0.999981760802075	0.938
18	20596888	G	C	18	23016925	y	y	splicing	RBBP8(NM_002894:exon17:c.2454+1G>C;NM_203291:exon17:c.2454+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2454+1G>C;ENST00000399722:exon17:c.2454+1G>C;ENST00000360790:exon17:c.2469+1G>C;ENST00000583057:exon6:c.728+1G>C)	.	.	0.999981760802075	0.932
18	20596888	G	T	18	23016925	y	y	splicing	RBBP8(NM_002894:exon17:c.2454+1G>T;NM_203291:exon17:c.2454+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2454+1G>T;ENST00000399722:exon17:c.2454+1G>T;ENST00000360790:exon17:c.2469+1G>T;ENST00000583057:exon6:c.728+1G>T)	.	.	0.999981760802075	0.938
18	20596889	T	A	18	23016926	y	y	splicing	RBBP8(NM_002894:exon17:c.2454+2T>A;NM_203291:exon17:c.2454+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2454+2T>A;ENST00000399722:exon17:c.2454+2T>A;ENST00000360790:exon17:c.2469+2T>A;ENST00000583057:exon6:c.728+2T>A)	.	.	0.999966203349492	0.928
18	20596889	T	C	18	23016926	y	y	splicing	RBBP8(NM_002894:exon17:c.2454+2T>C;NM_203291:exon17:c.2454+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2454+2T>C;ENST00000399722:exon17:c.2454+2T>C;ENST00000360790:exon17:c.2469+2T>C;ENST00000583057:exon6:c.728+2T>C)	.	.	0.99093437266484	0.656
18	20596889	T	G	18	23016926	y	y	splicing	RBBP8(NM_002894:exon17:c.2454+2T>G;NM_203291:exon17:c.2454+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon17:c.2454+2T>G;ENST00000399722:exon17:c.2454+2T>G;ENST00000360790:exon17:c.2469+2T>G;ENST00000583057:exon6:c.728+2T>G)	.	.	0.999966203349492	0.93
18	20596890	A	C	18	23016927	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.99748510071814	0.756
18	20596890	A	G	18	23016927	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00197942150012355	0.042
18	20596890	A	T	18	23016927	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998178684303203	0.748
18	20596891	A	C	18	23016928	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.994243394711803	0.824
18	20596891	A	G	18	23016928	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.998501999881536	0.862
18	20596891	A	T	18	23016928	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997862929599227	0.886
18	20596892	G	A	18	23016929	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999969521554279	1.0
18	20596892	G	C	18	23016929	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999988396585499	0.97
18	20596892	G	T	18	23016929	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999961911354078	0.988
18	20596893	T	A	18	23016930	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.991326124973294	0.758
18	20596893	T	C	18	23016930	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.988037126762736	0.828
18	20596893	T	G	18	23016930	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.996088777144198	0.93
18	20596894	A	C	18	23016931	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0102376439405731	0.034
18	20596894	A	G	18	23016931	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0102376439405731	0.036
18	20596894	A	T	18	23016931	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00851976973779713	0.034
18	20596895	C	A	18	23016932	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.43746380146173E-4	0.0
18	20596895	C	G	18	23016932	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.03743922077099E-4	0.0
18	20596895	C	T	18	23016932	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.01528998295613E-5	0.0
18	20602080	T	A	18	23022117	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.979545302589296	0.772
18	20602080	T	C	18	23022117	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00375882849525744	0.162
18	20602080	T	G	18	23022117	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.157586441539912	0.558
18	20602081	T	A	18	23022118	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.991845472990007	0.78
18	20602081	T	C	18	23022118	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0346159217739599	0.316
18	20602081	T	G	18	23022118	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.93332002451968	0.696
18	20602082	T	A	18	23022119	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.881050557204667	0.814
18	20602082	T	C	18	23022119	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00117582260506851	0.116
18	20602082	T	G	18	23022119	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.544409048648859	0.724
18	20602083	T	A	18	23022120	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.315653731122986	0.664
18	20602083	T	C	18	23022120	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00356244136376113	0.07
18	20602083	T	G	18	23022120	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.711101042040051	0.718
18	20602084	A	C	18	23022121	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.80083587275966E-4	0.0
18	20602084	A	G	18	23022121	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.2601870208195E-4	0.0
18	20602084	A	T	18	23022121	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.6053173337016E-4	0.01
18	20602085	T	A	18	23022122	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0208747564270215	0.176
18	20602085	T	C	18	23022122	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.17015834047351E-4	0.076
18	20602085	T	G	18	23022122	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999927581723238	0.988
18	20602086	T	A	18	23022123	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.612755356964084	0.512
18	20602086	T	C	18	23022123	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00107619458416904	0.07
18	20602086	T	G	18	23022123	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.548927542827019	0.494
18	20602087	A	C	18	23022124	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.67944982512943E-5	0.008
18	20602087	A	G	18	23022124	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.94264370259174E-5	0.04
18	20602087	A	T	18	23022124	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.71574138281445E-5	0.06
18	20602088	T	A	18	23022125	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.03014175117262E-4	0.006
18	20602088	T	C	18	23022125	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.84521307374474E-4	0.022
18	20602088	T	G	18	23022125	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999701171422275	0.988
18	20602089	T	A	18	23022126	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.526470952659808	0.416
18	20602089	T	C	18	23022126	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.59998374392143E-4	0.052
18	20602089	T	G	18	23022126	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.997817090137805	0.686
18	20602090	A	C	18	23022127	y	y	splicing	RBBP8(NM_002894:exon18:c.2455-2A>C;NM_203292:exon17:c.2358-2A>C;NM_203291:exon18:c.2455-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2455-2A>C;ENST00000399722:exon18:c.2455-2A>C;ENST00000399725:exon17:c.2358-2A>C;ENST00000360790:exon18:c.2470-2A>C;ENST00000583057:exon7:c.729-2A>C)	.	.	0.999988247793601	0.948
18	20602090	A	G	18	23022127	y	y	splicing	RBBP8(NM_002894:exon18:c.2455-2A>G;NM_203292:exon17:c.2358-2A>G;NM_203291:exon18:c.2455-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2455-2A>G;ENST00000399722:exon18:c.2455-2A>G;ENST00000399725:exon17:c.2358-2A>G;ENST00000360790:exon18:c.2470-2A>G;ENST00000583057:exon7:c.729-2A>G)	.	.	0.999988247793601	0.948
18	20602090	A	T	18	23022127	y	y	splicing	RBBP8(NM_002894:exon18:c.2455-2A>T;NM_203292:exon17:c.2358-2A>T;NM_203291:exon18:c.2455-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2455-2A>T;ENST00000399722:exon18:c.2455-2A>T;ENST00000399725:exon17:c.2358-2A>T;ENST00000360790:exon18:c.2470-2A>T;ENST00000583057:exon7:c.729-2A>T)	.	.	0.999988247793601	0.948
18	20602091	G	A	18	23022128	y	y	splicing	RBBP8(NM_002894:exon18:c.2455-1G>A;NM_203292:exon17:c.2358-1G>A;NM_203291:exon18:c.2455-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2455-1G>A;ENST00000399722:exon18:c.2455-1G>A;ENST00000399725:exon17:c.2358-1G>A;ENST00000360790:exon18:c.2470-1G>A;ENST00000583057:exon7:c.729-1G>A)	.	.	0.999989072007339	0.946
18	20602091	G	C	18	23022128	y	y	splicing	RBBP8(NM_002894:exon18:c.2455-1G>C;NM_203292:exon17:c.2358-1G>C;NM_203291:exon18:c.2455-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2455-1G>C;ENST00000399722:exon18:c.2455-1G>C;ENST00000399725:exon17:c.2358-1G>C;ENST00000360790:exon18:c.2470-1G>C;ENST00000583057:exon7:c.729-1G>C)	.	.	0.999989072007339	0.946
18	20602091	G	T	18	23022128	y	y	splicing	RBBP8(NM_002894:exon18:c.2455-1G>T;NM_203292:exon17:c.2358-1G>T;NM_203291:exon18:c.2455-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2455-1G>T;ENST00000399722:exon18:c.2455-1G>T;ENST00000399725:exon17:c.2358-1G>T;ENST00000360790:exon18:c.2470-1G>T;ENST00000583057:exon7:c.729-1G>T)	.	.	0.999989072007339	0.946
18	20602092	T	A	18	23022129	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.T2455A:p.Y819N;RBBP8:NM_203292:exon17:c.T2358A:p.S786R;RBBP8:NM_203291:exon18:c.T2455A:p.Y819N;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.T2455A:p.Y819N;ENSG00000101773:ENST00000399725:exon17:c.T2358A:p.S786R;ENSG00000101773:ENST00000399722:exon18:c.T2455A:p.Y819N;ENSG00000101773:ENST00000583057:exon7:c.T729A:p.F243L;ENSG00000101773:ENST00000360790:exon18:c.T2470A:p.Y824N;	0.743079865496101	0.614
18	20602092	T	C	18	23022129	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.T2455C:p.Y819H;RBBP8:NM_203291:exon18:c.T2455C:p.Y819H;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.T2455C:p.Y819H;ENSG00000101773:ENST00000399722:exon18:c.T2455C:p.Y819H;ENSG00000101773:ENST00000360790:exon18:c.T2470C:p.Y824H;	0.977892796687438	0.7
18	20602092	T	G	18	23022129	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.T2455G:p.Y819D;RBBP8:NM_203292:exon17:c.T2358G:p.S786R;RBBP8:NM_203291:exon18:c.T2455G:p.Y819D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.T2455G:p.Y819D;ENSG00000101773:ENST00000399725:exon17:c.T2358G:p.S786R;ENSG00000101773:ENST00000399722:exon18:c.T2455G:p.Y819D;ENSG00000101773:ENST00000583057:exon7:c.T729G:p.F243L;ENSG00000101773:ENST00000360790:exon18:c.T2470G:p.Y824D;	0.816752642207431	0.558
18	20602093	A	C	18	23022130	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.A2456C:p.Y819S;RBBP8:NM_203292:exon17:c.A2359C:p.I787L;RBBP8:NM_203291:exon18:c.A2456C:p.Y819S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.A2456C:p.Y819S;ENSG00000101773:ENST00000399725:exon17:c.A2359C:p.I787L;ENSG00000101773:ENST00000399722:exon18:c.A2456C:p.Y819S;ENSG00000101773:ENST00000583057:exon7:c.A730C:p.I244L;ENSG00000101773:ENST00000360790:exon18:c.A2471C:p.Y824S;	0.937673245292472	0.792
18	20602093	A	G	18	23022130	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.A2456G:p.Y819C;RBBP8:NM_203292:exon17:c.A2359G:p.I787V;RBBP8:NM_203291:exon18:c.A2456G:p.Y819C;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.A2456G:p.Y819C;ENSG00000101773:ENST00000399725:exon17:c.A2359G:p.I787V;ENSG00000101773:ENST00000399722:exon18:c.A2456G:p.Y819C;ENSG00000101773:ENST00000583057:exon7:c.A730G:p.I244V;ENSG00000101773:ENST00000360790:exon18:c.A2471G:p.Y824C;	0.934469182930908	0.732
18	20602093	A	T	18	23022130	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.A2456T:p.Y819F;RBBP8:NM_203292:exon17:c.A2359T:p.I787F;RBBP8:NM_203291:exon18:c.A2456T:p.Y819F;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.A2456T:p.Y819F;ENSG00000101773:ENST00000399725:exon17:c.A2359T:p.I787F;ENSG00000101773:ENST00000399722:exon18:c.A2456T:p.Y819F;ENSG00000101773:ENST00000583057:exon7:c.A730T:p.I244F;ENSG00000101773:ENST00000360790:exon18:c.A2471T:p.Y824F;	0.887248749505485	0.666
18	20602231	G	A	18	23022268	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.G2594A:p.R865K;RBBP8:NM_203292:exon17:c.G2497A:p.E833K;RBBP8:NM_203291:exon18:c.G2594A:p.R865K;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.G2594A:p.R865K;ENSG00000101773:ENST00000399725:exon17:c.G2497A:p.E833K;ENSG00000101773:ENST00000399722:exon18:c.G2594A:p.R865K;ENSG00000101773:ENST00000581687:exon2:c.G128A:p.R43K;ENSG00000101773:ENST00000583057:exon7:c.G868A:p.E290K;ENSG00000101773:ENST00000360790:exon18:c.G2609A:p.R870K;	0.957317523682655	0.722
18	20602231	G	C	18	23022268	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.G2594C:p.R865T;RBBP8:NM_203292:exon17:c.G2497C:p.E833Q;RBBP8:NM_203291:exon18:c.G2594C:p.R865T;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.G2594C:p.R865T;ENSG00000101773:ENST00000399725:exon17:c.G2497C:p.E833Q;ENSG00000101773:ENST00000399722:exon18:c.G2594C:p.R865T;ENSG00000101773:ENST00000581687:exon2:c.G128C:p.R43T;ENSG00000101773:ENST00000583057:exon7:c.G868C:p.E290Q;ENSG00000101773:ENST00000360790:exon18:c.G2609C:p.R870T;	0.842861916018569	0.652
18	20602231	G	T	18	23022268	y	y	exonic	RBBP8	stopgain SNV	RBBP8:NM_203292:exon17:c.G2497T:p.E833X;	exonic	ENSG00000101773	stopgain SNV	ENSG00000101773:ENST00000399725:exon17:c.G2497T:p.E833X;ENSG00000101773:ENST00000583057:exon7:c.G868T:p.E290X;	0.994484275355381	0.874
18	20602232	A	C	18	23022269	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.A2595C:p.R865S;RBBP8:NM_203292:exon17:c.A2498C:p.E833A;RBBP8:NM_203291:exon18:c.A2595C:p.R865S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.A2595C:p.R865S;ENSG00000101773:ENST00000399725:exon17:c.A2498C:p.E833A;ENSG00000101773:ENST00000399722:exon18:c.A2595C:p.R865S;ENSG00000101773:ENST00000581687:exon2:c.A129C:p.R43S;ENSG00000101773:ENST00000583057:exon7:c.A869C:p.E290A;ENSG00000101773:ENST00000360790:exon18:c.A2610C:p.R870S;	0.948102144489786	0.738
18	20602232	A	G	18	23022269	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_203292:exon17:c.A2498G:p.E833G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000399725:exon17:c.A2498G:p.E833G;ENSG00000101773:ENST00000583057:exon7:c.A869G:p.E290G;	0.997842111303935	0.892
18	20602232	A	T	18	23022269	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.A2595T:p.R865S;RBBP8:NM_203292:exon17:c.A2498T:p.E833V;RBBP8:NM_203291:exon18:c.A2595T:p.R865S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.A2595T:p.R865S;ENSG00000101773:ENST00000399725:exon17:c.A2498T:p.E833V;ENSG00000101773:ENST00000399722:exon18:c.A2595T:p.R865S;ENSG00000101773:ENST00000581687:exon2:c.A129T:p.R43S;ENSG00000101773:ENST00000583057:exon7:c.A869T:p.E290V;ENSG00000101773:ENST00000360790:exon18:c.A2610T:p.R870S;	0.993985010399398	0.9
18	20602233	G	A	18	23022270	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.G2596A:p.G866S;RBBP8:NM_203291:exon18:c.G2596A:p.G866S;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.G2596A:p.G866S;ENSG00000101773:ENST00000399722:exon18:c.G2596A:p.G866S;ENSG00000101773:ENST00000581687:exon2:c.G130A:p.G44S;ENSG00000101773:ENST00000360790:exon18:c.G2611A:p.G871S;	0.99996082707238	0.992
18	20602233	G	C	18	23022270	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.G2596C:p.G866R;RBBP8:NM_203292:exon17:c.G2499C:p.E833D;RBBP8:NM_203291:exon18:c.G2596C:p.G866R;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.G2596C:p.G866R;ENSG00000101773:ENST00000399725:exon17:c.G2499C:p.E833D;ENSG00000101773:ENST00000399722:exon18:c.G2596C:p.G866R;ENSG00000101773:ENST00000581687:exon2:c.G130C:p.G44R;ENSG00000101773:ENST00000583057:exon7:c.G870C:p.E290D;ENSG00000101773:ENST00000360790:exon18:c.G2611C:p.G871R;	0.999996009860155	0.994
18	20602233	G	T	18	23022270	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon18:c.G2596T:p.G866C;RBBP8:NM_203292:exon17:c.G2499T:p.E833D;RBBP8:NM_203291:exon18:c.G2596T:p.G866C;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon18:c.G2596T:p.G866C;ENSG00000101773:ENST00000399725:exon17:c.G2499T:p.E833D;ENSG00000101773:ENST00000399722:exon18:c.G2596T:p.G866C;ENSG00000101773:ENST00000581687:exon2:c.G130T:p.G44C;ENSG00000101773:ENST00000583057:exon7:c.G870T:p.E290D;ENSG00000101773:ENST00000360790:exon18:c.G2611T:p.G871C;	0.999741888788337	0.942
18	20602234	G	A	18	23022271	y	y	splicing	RBBP8(NM_002894:exon18:c.2596+1G>A;NM_203292:exon17:c.2499+1G>A;NM_203291:exon18:c.2596+1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2596+1G>A;ENST00000399722:exon18:c.2596+1G>A;ENST00000399725:exon17:c.2499+1G>A;ENST00000360790:exon18:c.2611+1G>A;ENST00000583057:exon7:c.870+1G>A;ENST00000581687:exon2:c.130+1G>A)	.	.	0.999990361384395	0.938
18	20602234	G	C	18	23022271	y	y	splicing	RBBP8(NM_002894:exon18:c.2596+1G>C;NM_203292:exon17:c.2499+1G>C;NM_203291:exon18:c.2596+1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2596+1G>C;ENST00000399722:exon18:c.2596+1G>C;ENST00000399725:exon17:c.2499+1G>C;ENST00000360790:exon18:c.2611+1G>C;ENST00000583057:exon7:c.870+1G>C;ENST00000581687:exon2:c.130+1G>C)	.	.	0.999990361384395	0.938
18	20602234	G	T	18	23022271	y	y	splicing	RBBP8(NM_002894:exon18:c.2596+1G>T;NM_203292:exon17:c.2499+1G>T;NM_203291:exon18:c.2596+1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2596+1G>T;ENST00000399722:exon18:c.2596+1G>T;ENST00000399725:exon17:c.2499+1G>T;ENST00000360790:exon18:c.2611+1G>T;ENST00000583057:exon7:c.870+1G>T;ENST00000581687:exon2:c.130+1G>T)	.	.	0.999990361384395	0.938
18	20602235	T	A	18	23022272	y	y	splicing	RBBP8(NM_002894:exon18:c.2596+2T>A;NM_203292:exon17:c.2499+2T>A;NM_203291:exon18:c.2596+2T>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2596+2T>A;ENST00000399722:exon18:c.2596+2T>A;ENST00000399725:exon17:c.2499+2T>A;ENST00000360790:exon18:c.2611+2T>A;ENST00000583057:exon7:c.870+2T>A;ENST00000581687:exon2:c.130+2T>A)	.	.	0.999988247793601	0.93
18	20602235	T	C	18	23022272	y	y	splicing	RBBP8(NM_002894:exon18:c.2596+2T>C;NM_203292:exon17:c.2499+2T>C;NM_203291:exon18:c.2596+2T>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2596+2T>C;ENST00000399722:exon18:c.2596+2T>C;ENST00000399725:exon17:c.2499+2T>C;ENST00000360790:exon18:c.2611+2T>C;ENST00000583057:exon7:c.870+2T>C;ENST00000581687:exon2:c.130+2T>C)	.	.	0.999929727175276	0.87
18	20602235	T	G	18	23022272	y	y	splicing	RBBP8(NM_002894:exon18:c.2596+2T>G;NM_203292:exon17:c.2499+2T>G;NM_203291:exon18:c.2596+2T>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon18:c.2596+2T>G;ENST00000399722:exon18:c.2596+2T>G;ENST00000399725:exon17:c.2499+2T>G;ENST00000360790:exon18:c.2611+2T>G;ENST00000583057:exon7:c.870+2T>G;ENST00000581687:exon2:c.130+2T>G)	.	.	0.999988247793601	0.93
18	20602236	G	A	18	23022273	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.58436829348571E-4	0.026
18	20602236	G	C	18	23022273	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.208675839213262	0.36
18	20602236	G	T	18	23022273	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.666533668861035	0.454
18	20602237	A	C	18	23022274	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.94290810982185	0.628
18	20602237	A	G	18	23022274	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.994316787049575	0.768
18	20602237	A	T	18	23022274	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.985685118792537	0.686
18	20602238	G	A	18	23022275	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999050120442385	0.888
18	20602238	G	C	18	23022275	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.994043300732757	0.702
18	20602238	G	T	18	23022275	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999032062006527	0.878
18	20602239	A	C	18	23022276	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00356433292745402	0.106
18	20602239	A	G	18	23022276	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.68282084271946E-4	0.024
18	20602239	A	T	18	23022276	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.29840144201623E-4	0.038
18	20602240	G	A	18	23022277	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.17872932680869E-5	0.002
18	20602240	G	C	18	23022277	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	2.48680815011898E-5	0.002
18	20602240	G	T	18	23022277	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.95096911742312E-6	0.0
18	20602241	T	A	18	23022278	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.71985486640745E-5	0.002
18	20602241	T	C	18	23022278	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	9.22061477655919E-5	0.002
18	20602241	T	G	18	23022278	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	3.76220912340166E-5	0.002
18	20606094	T	A	18	23026131	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.892237541772323	0.642
18	20606094	T	C	18	23026131	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0045416681258514	0.128
18	20606094	T	G	18	23026131	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999699818771197	0.97
18	20606095	T	A	18	23026132	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.965767234623916	0.782
18	20606095	T	C	18	23026132	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0173037023734745	0.228
18	20606095	T	G	18	23026132	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.931814109866745	0.74
18	20606096	T	A	18	23026133	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.999942925521926	0.976
18	20606096	T	C	18	23026133	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00284543853582264	0.126
18	20606096	T	G	18	23026133	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.944436130541444	0.686
18	20606097	G	A	18	23026134	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	4.57862418875019E-4	0.024
18	20606097	G	C	18	23026134	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.63145518914767E-5	0.01
18	20606097	G	T	18	23026134	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	6.7466306815852E-5	0.03
18	20606098	T	A	18	23026135	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0139100697141438	0.18
18	20606098	T	C	18	23026135	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.0968753809674E-4	0.014
18	20606098	T	G	18	23026135	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00220188786060323	0.064
18	20606099	T	A	18	23026136	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00465902433316569	0.162
18	20606099	T	C	18	23026136	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00295494774030371	0.192
18	20606099	T	G	18	23026136	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0156424561281096	0.144
18	20606100	T	A	18	23026137	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.990524309189661	0.718
18	20606100	T	C	18	23026137	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0225581859724316	0.154
18	20606100	T	G	18	23026137	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.98913968774861	0.7
18	20606101	T	A	18	23026138	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.983026817358226	0.65
18	20606101	T	C	18	23026138	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.231553950208185	0.266
18	20606101	T	G	18	23026138	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.966735709433763	0.634
18	20606102	T	A	18	23026139	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00180247614758455	0.034
18	20606102	T	C	18	23026139	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	5.20647734274774E-4	0.068
18	20606102	T	G	18	23026139	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.00479190885585101	0.09
18	20606103	A	C	18	23026140	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	1.92169890167332E-4	0.038
18	20606103	A	G	18	23026140	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	0.0647980856804135	0.424
18	20606103	A	T	18	23026140	y	y	intronic	RBBP8	.	.	intronic	ENSG00000101773	.	.	7.70424856362836E-5	0.0
18	20606104	A	C	18	23026141	y	y	splicing	RBBP8(NM_002894:exon19:c.2597-2A>C;NM_203292:exon18:c.2500-2A>C;NM_203291:exon19:c.2597-2A>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon19:c.2597-2A>C;ENST00000399722:exon19:c.2597-2A>C;ENST00000399725:exon18:c.2500-2A>C;ENST00000360790:exon19:c.2612-2A>C;ENST00000583057:exon8:c.871-2A>C;ENST00000581687:exon3:c.131-2A>C)	.	.	0.999988247793601	0.952
18	20606104	A	G	18	23026141	y	y	splicing	RBBP8(NM_002894:exon19:c.2597-2A>G;NM_203292:exon18:c.2500-2A>G;NM_203291:exon19:c.2597-2A>G)	.	.	splicing	ENSG00000101773(ENST00000327155:exon19:c.2597-2A>G;ENST00000399722:exon19:c.2597-2A>G;ENST00000399725:exon18:c.2500-2A>G;ENST00000360790:exon19:c.2612-2A>G;ENST00000583057:exon8:c.871-2A>G;ENST00000581687:exon3:c.131-2A>G)	.	.	0.999988247793601	0.952
18	20606104	A	T	18	23026141	y	y	splicing	RBBP8(NM_002894:exon19:c.2597-2A>T;NM_203292:exon18:c.2500-2A>T;NM_203291:exon19:c.2597-2A>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon19:c.2597-2A>T;ENST00000399722:exon19:c.2597-2A>T;ENST00000399725:exon18:c.2500-2A>T;ENST00000360790:exon19:c.2612-2A>T;ENST00000583057:exon8:c.871-2A>T;ENST00000581687:exon3:c.131-2A>T)	.	.	0.999988247793601	0.952
18	20606105	G	A	18	23026142	y	y	splicing	RBBP8(NM_002894:exon19:c.2597-1G>A;NM_203292:exon18:c.2500-1G>A;NM_203291:exon19:c.2597-1G>A)	.	.	splicing	ENSG00000101773(ENST00000327155:exon19:c.2597-1G>A;ENST00000399722:exon19:c.2597-1G>A;ENST00000399725:exon18:c.2500-1G>A;ENST00000360790:exon19:c.2612-1G>A;ENST00000583057:exon8:c.871-1G>A;ENST00000581687:exon3:c.131-1G>A)	.	.	0.999990361384395	0.952
18	20606105	G	C	18	23026142	y	y	splicing	RBBP8(NM_002894:exon19:c.2597-1G>C;NM_203292:exon18:c.2500-1G>C;NM_203291:exon19:c.2597-1G>C)	.	.	splicing	ENSG00000101773(ENST00000327155:exon19:c.2597-1G>C;ENST00000399722:exon19:c.2597-1G>C;ENST00000399725:exon18:c.2500-1G>C;ENST00000360790:exon19:c.2612-1G>C;ENST00000583057:exon8:c.871-1G>C;ENST00000581687:exon3:c.131-1G>C)	.	.	0.999990361384395	0.952
18	20606105	G	T	18	23026142	y	y	splicing	RBBP8(NM_002894:exon19:c.2597-1G>T;NM_203292:exon18:c.2500-1G>T;NM_203291:exon19:c.2597-1G>T)	.	.	splicing	ENSG00000101773(ENST00000327155:exon19:c.2597-1G>T;ENST00000399722:exon19:c.2597-1G>T;ENST00000399725:exon18:c.2500-1G>T;ENST00000360790:exon19:c.2612-1G>T;ENST00000583057:exon8:c.871-1G>T;ENST00000581687:exon3:c.131-1G>T)	.	.	0.999990361384395	0.952
18	20606106	G	A	18	23026143	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon19:c.G2597A:p.G866D;RBBP8:NM_203292:exon18:c.G2500A:p.V834I;RBBP8:NM_203291:exon19:c.G2597A:p.G866D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon19:c.G2597A:p.G866D;ENSG00000101773:ENST00000399725:exon18:c.G2500A:p.V834I;ENSG00000101773:ENST00000399722:exon19:c.G2597A:p.G866D;ENSG00000101773:ENST00000581687:exon3:c.G131A:p.G44D;ENSG00000101773:ENST00000583057:exon8:c.G871A:p.V291I;ENSG00000101773:ENST00000360790:exon19:c.G2612A:p.G871D;	0.997453093871365	0.866
18	20606106	G	C	18	23026143	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon19:c.G2597C:p.G866A;RBBP8:NM_203292:exon18:c.G2500C:p.V834L;RBBP8:NM_203291:exon19:c.G2597C:p.G866A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon19:c.G2597C:p.G866A;ENSG00000101773:ENST00000399725:exon18:c.G2500C:p.V834L;ENSG00000101773:ENST00000399722:exon19:c.G2597C:p.G866A;ENSG00000101773:ENST00000581687:exon3:c.G131C:p.G44A;ENSG00000101773:ENST00000583057:exon8:c.G871C:p.V291L;ENSG00000101773:ENST00000360790:exon19:c.G2612C:p.G871A;	0.998983293302854	0.944
18	20606106	G	T	18	23026143	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_002894:exon19:c.G2597T:p.G866V;RBBP8:NM_203292:exon18:c.G2500T:p.V834F;RBBP8:NM_203291:exon19:c.G2597T:p.G866V;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000327155:exon19:c.G2597T:p.G866V;ENSG00000101773:ENST00000399725:exon18:c.G2500T:p.V834F;ENSG00000101773:ENST00000399722:exon19:c.G2597T:p.G866V;ENSG00000101773:ENST00000581687:exon3:c.G131T:p.G44V;ENSG00000101773:ENST00000583057:exon8:c.G871T:p.V291F;ENSG00000101773:ENST00000360790:exon19:c.G2612T:p.G871V;	0.999143007731402	0.934
18	20606107	T	A	18	23026144	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_203292:exon18:c.T2501A:p.V834D;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000399725:exon18:c.T2501A:p.V834D;ENSG00000101773:ENST00000583057:exon8:c.T872A:p.V291D;	0.0200664032887841	0.192
18	20606107	T	C	18	23026144	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_203292:exon18:c.T2501C:p.V834A;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000399725:exon18:c.T2501C:p.V834A;ENSG00000101773:ENST00000583057:exon8:c.T872C:p.V291A;	0.0253753935994694	0.188
18	20606107	T	G	18	23026144	y	y	exonic	RBBP8	nonsynonymous SNV	RBBP8:NM_203292:exon18:c.T2501G:p.V834G;	exonic	ENSG00000101773	nonsynonymous SNV	ENSG00000101773:ENST00000399725:exon18:c.T2501G:p.V834G;ENSG00000101773:ENST00000583057:exon8:c.T872G:p.V291G;	0.0254585872586542	0.152
18	20714613	A	C	18	23134649	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.64857229448119E-4	0.002
18	20714613	A	G	18	23134649	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.64857229448119E-4	0.002
18	20714613	A	T	18	23134649	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.64857229448119E-4	0.002
18	20714614	A	C	18	23134650	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	8.74217688214081E-5	0.026
18	20714614	A	G	18	23134650	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	8.74217688214081E-5	0.044
18	20714614	A	T	18	23134650	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	8.74217688214081E-5	0.028
18	20714615	G	A	18	23134651	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	2.68322169871671E-4	0.01
18	20714615	G	C	18	23134651	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	2.96635349688965E-4	0.012
18	20714615	G	T	18	23134651	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	2.68322169871671E-4	0.016
18	20714616	G	A	18	23134652	n	y	UTR5	CABLES1	.	.	splicing	ENSG00000134508	.	.	0.0957880010029848	0.464
18	20714616	G	C	18	23134652	n	y	UTR5	CABLES1	.	.	splicing	ENSG00000134508	.	.	0.0324821434536474	0.458
18	20714616	G	T	18	23134652	n	y	UTR5	CABLES1	.	.	splicing	ENSG00000134508	.	.	0.0919539666016441	0.458
18	20714617	T	A	18	23134653	n	y	UTR5	CABLES1	.	.	splicing	ENSG00000134508	.	.	3.66770659481878E-4	0.012
18	20714617	T	C	18	23134653	n	y	UTR5	CABLES1	.	.	splicing	ENSG00000134508	.	.	1.64857229448119E-4	0.002
18	20714617	T	G	18	23134653	n	y	UTR5	CABLES1	.	.	splicing	ENSG00000134508	.	.	1.64857229448119E-4	0.002
18	20714618	G	A	18	23134654	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	3.83724334551024E-4	0.012
18	20714618	G	C	18	23134654	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	4.22959446752711E-4	0.014
18	20714618	G	T	18	23134654	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	4.22959446752711E-4	0.014
18	20714619	A	C	18	23134655	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.16080636402324E-4	0.002
18	20714619	A	G	18	23134655	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.16080636402324E-4	0.012
18	20714619	A	T	18	23134655	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.16080636402324E-4	0.004
18	20714620	C	A	18	23134656	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.13324429737708E-4	0.008
18	20714620	C	G	18	23134656	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.13324429737708E-4	0.006
18	20714620	C	T	18	23134656	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	7.75002676380762E-5	0.02
18	20714621	C	A	18	23134657	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	6.552751562108E-5	0.006
18	20714621	C	G	18	23134657	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	6.552751562108E-5	0.006
18	20714621	C	T	18	23134657	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	6.552751562108E-5	0.008
18	20714622	A	C	18	23134658	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	2.93750929994865E-5	0.0
18	20714622	A	G	18	23134658	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	2.93750929994865E-5	0.0
18	20714622	A	T	18	23134658	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	2.93750929994865E-5	0.0
18	20714623	G	A	18	23134659	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	8.30945796578933E-5	0.0
18	20714623	G	C	18	23134659	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	7.52881759733747E-5	0.0
18	20714623	G	T	18	23134659	n	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	8.30945796578933E-5	0.0
18	20714632	A	C	18	23134668	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	6.64677722929178E-5	0.0
18	20714632	A	G	18	23134668	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	6.64677722929178E-5	0.0
18	20714632	A	T	18	23134668	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	7.33596820440618E-5	0.0
18	20714633	G	A	18	23134669	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	9.38651049164659E-4	0.01
18	20714633	G	C	18	23134669	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	7.91836965572762E-4	0.008
18	20714633	G	T	18	23134669	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	7.91836965572762E-4	0.006
18	20714634	T	A	18	23134670	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.02728736892418E-4	0.0
18	20714634	T	C	18	23134670	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	7.30127177594752E-5	0.0
18	20714634	T	G	18	23134670	y	y	UTR5	CABLES1	.	.	UTR5	ENSG00000134508	.	.	7.30127177594752E-5	0.0
18	20714635	G	A	18	23134671	y	y	splicing	CABLES1	.	.	splicing	ENSG00000134508	.	.	0.00918874967650165	0.026
18	20714635	G	C	18	23134671	y	y	splicing	CABLES1	.	.	splicing	ENSG00000134508	.	.	0.00622786257598514	0.048
18	20714635	G	T	18	23134671	y	y	splicing	CABLES1	.	.	splicing	ENSG00000134508	.	.	0.00918874967650165	0.018
18	20714636	T	A	18	23134672	y	y	splicing	CABLES1	.	.	splicing	ENSG00000134508	.	.	5.25211152755068E-5	0.0
18	20714636	T	C	18	23134672	y	y	splicing	CABLES1	.	.	splicing	ENSG00000134508	.	.	9.54583771157E-5	0.0
18	20714636	T	G	18	23134672	y	y	splicing	CABLES1	.	.	splicing	ENSG00000134508	.	.	9.54583771157E-5	0.0
18	20714637	A	C	18	23134673	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	7.62500938860321E-5	0.0
18	20714637	A	G	18	23134673	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	7.62500938860321E-5	0.0
18	20714637	A	T	18	23134673	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.19523722086209E-5	0.0
18	20714638	A	C	18	23134674	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00196693334828932	0.03
18	20714638	A	G	18	23134674	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00196693334828932	0.028
18	20714638	A	T	18	23134674	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00124011247332332	0.026
18	20714639	G	A	18	23134675	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.45170072801036E-5	0.016
18	20714639	G	C	18	23134675	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.45170072801036E-5	0.016
18	20714639	G	T	18	23134675	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.45170072801036E-5	0.016
18	20714640	G	A	18	23134676	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	8.30945796578933E-5	0.0
18	20714640	G	C	18	23134676	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	7.52881759733747E-5	0.0
18	20714640	G	T	18	23134676	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	7.52881759733747E-5	0.0
18	20714641	T	A	18	23134677	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.35428655471156E-5	0.002
18	20714641	T	C	18	23134677	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.35428655471156E-5	0.002
18	20714641	T	G	18	23134677	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.35428655471156E-5	0.002
18	20714642	C	A	18	23134678	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.57076726553018E-5	0.0
18	20714642	C	G	18	23134678	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.57076726553018E-5	0.0
18	20714642	C	T	18	23134678	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.69930370103191E-5	0.0
18	20715507	T	A	18	23135543	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	4.30513454744474E-5	0.0
18	20715507	T	C	18	23135543	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	4.30513454744474E-5	0.0
18	20715507	T	G	18	23135543	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	4.30513454744474E-5	0.0
18	20715508	A	C	18	23135544	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.28685671003782E-4	0.002
18	20715508	A	G	18	23135544	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.10594468125893E-4	0.002
18	20715508	A	T	18	23135544	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	1.2651408426655E-4	0.008
18	20715509	G	A	18	23135545	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	5.65823046292135E-5	0.0
18	20715509	G	C	18	23135545	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	2.72841159385093E-5	0.0
18	20715509	G	T	18	23135545	n	y	intronic	CABLES1	.	.	UTR5	ENSG00000134508	.	.	2.72841159385093E-5	0.0
18	20715510	G	A	18	23135546	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134508	.	.	1.42005417025298E-5	0.0
18	20715510	G	C	18	23135546	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134508	.	.	1.42005417025298E-5	0.0
18	20715510	G	T	18	23135546	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134508	.	.	1.42005417025298E-5	0.0
18	20715511	T	A	18	23135547	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134508	.	.	7.01315188657279E-5	0.0
18	20715511	T	C	18	23135547	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134508	.	.	7.01315188657279E-5	0.0
18	20715511	T	G	18	23135547	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134508	.	.	7.01315188657279E-5	0.0
18	20715512	A	C	18	23135548	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.12869275217467E-5	0.002
18	20715512	A	G	18	23135548	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.12869275217467E-5	0.002
18	20715512	A	T	18	23135548	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.2709332397549E-4	0.002
18	20715513	G	A	18	23135549	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.37184549953077E-4	0.0
18	20715513	G	C	18	23135549	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.24297241394797E-4	0.0
18	20715513	G	T	18	23135549	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.24297241394797E-4	0.0
18	20715514	C	A	18	23135550	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.12051756480288E-5	0.0
18	20715514	C	G	18	23135550	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.12051756480288E-5	0.0
18	20715514	C	T	18	23135550	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.12051756480288E-5	0.0
18	20715515	G	A	18	23135551	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.90066968634554E-5	0.01
18	20715515	G	C	18	23135551	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.90066968634554E-5	0.002
18	20715515	G	T	18	23135551	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.90066968634554E-5	0.004
18	20715516	A	C	18	23135552	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.8311460600464E-4	0.002
18	20715516	A	G	18	23135552	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.8311460600464E-4	0.002
18	20715516	A	T	18	23135552	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.75584249442955E-4	0.004
18	20715517	G	A	18	23135553	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	9.26351819982407E-5	0.002
18	20715517	G	C	18	23135553	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	5.65823046292135E-5	0.0
18	20715517	G	T	18	23135553	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.58387015427962E-5	0.0
18	20716569	C	A	18	23136605	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001100619:exon1:c.C843A:p.S281S;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000256925:exon1:c.C843A:p.S281S;	1.11149369787147E-4	0.006
18	20716569	C	G	18	23136605	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001100619:exon1:c.C843G:p.S281S;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000256925:exon1:c.C843G:p.S281S;	1.2743385286217E-4	0.024
18	20716569	C	T	18	23136605	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001100619:exon1:c.C843T:p.S281S;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000256925:exon1:c.C843T:p.S281S;	0.0011279536829436	0.148
18	20716570	C	A	18	23136606	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001100619:exon1:c.C844A:p.R282R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000256925:exon1:c.C844A:p.R282R;	0.00853516906807011	0.226
18	20716570	C	G	18	23136606	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001100619:exon1:c.C844G:p.R282G;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000256925:exon1:c.C844G:p.R282G;	0.0523251193042226	0.18
18	20716570	C	T	18	23136606	y	y	exonic	CABLES1	stopgain SNV	CABLES1:NM_001100619:exon1:c.C844T:p.R282X;	exonic	ENSG00000134508	stopgain SNV	ENSG00000134508:ENST00000256925:exon1:c.C844T:p.R282X;	0.0494839484519562	0.366
18	20716571	G	A	18	23136607	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001100619:exon1:c.G845A:p.R282Q;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000256925:exon1:c.G845A:p.R282Q;	0.999859748713038	0.988
18	20716571	G	C	18	23136607	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001100619:exon1:c.G845C:p.R282P;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000256925:exon1:c.G845C:p.R282P;	0.999951542927829	0.978
18	20716571	G	T	18	23136607	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001100619:exon1:c.G845T:p.R282L;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000256925:exon1:c.G845T:p.R282L;	0.999913158915895	0.932
18	20716572	G	A	18	23136608	y	y	splicing	CABLES1(NM_001100619:exon1:c.845+1G>A)	.	.	splicing	ENSG00000134508(ENST00000256925:exon1:c.845+1G>A;ENST00000582882:exon1:c.184+1G>A)	.	.	0.999988247793601	0.928
18	20716572	G	C	18	23136608	y	y	splicing	CABLES1(NM_001100619:exon1:c.845+1G>C)	.	.	splicing	ENSG00000134508(ENST00000256925:exon1:c.845+1G>C;ENST00000582882:exon1:c.184+1G>C)	.	.	0.999988247793601	0.928
18	20716572	G	T	18	23136608	y	y	splicing	CABLES1(NM_001100619:exon1:c.845+1G>T)	.	.	splicing	ENSG00000134508(ENST00000256925:exon1:c.845+1G>T;ENST00000582882:exon1:c.184+1G>T)	.	.	0.999988247793601	0.928
18	20716573	T	A	18	23136609	y	y	splicing	CABLES1(NM_001100619:exon1:c.845+2T>A)	.	.	splicing	ENSG00000134508(ENST00000256925:exon1:c.845+2T>A;ENST00000582882:exon1:c.184+2T>A)	.	.	0.999993672935256	0.93
18	20716573	T	C	18	23136609	y	y	splicing	CABLES1(NM_001100619:exon1:c.845+2T>C)	.	.	splicing	ENSG00000134508(ENST00000256925:exon1:c.845+2T>C;ENST00000582882:exon1:c.184+2T>C)	.	.	0.999959541454763	0.862
18	20716573	T	G	18	23136609	y	y	splicing	CABLES1(NM_001100619:exon1:c.845+2T>G)	.	.	splicing	ENSG00000134508(ENST00000256925:exon1:c.845+2T>G;ENST00000582882:exon1:c.184+2T>G)	.	.	0.999993672935256	0.928
18	20716574	G	A	18	23136610	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.88337627124897E-5	0.012
18	20716574	G	C	18	23136610	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.686314348020842	0.496
18	20716574	G	T	18	23136610	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.242473953280738	0.478
18	20716575	A	C	18	23136611	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.995188920746448	0.876
18	20716575	A	G	18	23136611	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999412725464597	0.912
18	20716575	A	T	18	23136611	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999565159639692	0.876
18	20716576	G	A	18	23136612	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999175933982065	0.922
18	20716576	G	C	18	23136612	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999386435335209	0.97
18	20716576	G	T	18	23136612	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999724517118523	0.852
18	20716577	T	A	18	23136613	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.970112548891848	0.6
18	20716577	T	C	18	23136613	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.93044446657043	0.604
18	20716577	T	G	18	23136613	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.891697298816232	0.472
18	20716578	A	C	18	23136614	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	2.86720949466339E-4	0.006
18	20716578	A	G	18	23136614	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	8.27055911605375E-5	0.0
18	20716578	A	T	18	23136614	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.32242459853603E-4	0.0
18	20716579	T	A	18	23136615	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.93504463196686E-5	0.064
18	20716579	T	C	18	23136615	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.39612047859033E-5	0.048
18	20716579	T	G	18	23136615	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	2.34957779061543E-5	0.038
18	20735914	C	A	18	23155950	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon1:c.C48A:p.P16P;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.C48A:p.P16P;	2.175271902372E-4	0.008
18	20735914	C	G	18	23155950	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon1:c.C48G:p.P16P;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.C48G:p.P16P;	1.61228075999277E-4	0.006
18	20735914	C	T	18	23155950	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon1:c.C48T:p.P16P;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.C48T:p.P16P;	1.16855814842379E-4	0.008
18	20735915	A	C	18	23155951	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon1:c.A49C:p.I17L;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.A49C:p.I17L;	2.01340723066347E-4	0.004
18	20735915	A	G	18	23155951	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon1:c.A49G:p.I17V;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.A49G:p.I17V;	1.30452586690359E-4	0.0
18	20735915	A	T	18	23155951	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon1:c.A49T:p.I17L;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.A49T:p.I17L;	1.41066847823695E-4	0.016
18	20735916	T	A	18	23155952	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon1:c.T50A:p.I17K;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.T50A:p.I17K;	3.83488359282596E-5	0.094
18	20735916	T	C	18	23155952	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon1:c.T50C:p.I17T;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.T50C:p.I17T;	1.35379928190213E-5	0.006
18	20735916	T	G	18	23155952	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon1:c.T50G:p.I17R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon1:c.T50G:p.I17R;	1.35379928190213E-5	0.006
18	20735917	G	A	18	23155953	y	y	splicing	CABLES1(NM_138375:exon1:c.50+1G>A)	.	.	splicing	ENSG00000134508(ENST00000420687:exon1:c.50+1G>A)	.	.	2.01163773767764E-5	0.0
18	20735917	G	C	18	23155953	y	y	splicing	CABLES1(NM_138375:exon1:c.50+1G>C)	.	.	splicing	ENSG00000134508(ENST00000420687:exon1:c.50+1G>C)	.	.	1.86431456331734E-5	0.0
18	20735917	G	T	18	23155953	y	y	splicing	CABLES1(NM_138375:exon1:c.50+1G>T)	.	.	splicing	ENSG00000134508(ENST00000420687:exon1:c.50+1G>T)	.	.	1.86431456331734E-5	0.0
18	20735918	T	A	18	23155954	y	y	splicing	CABLES1(NM_138375:exon1:c.50+2T>A)	.	.	splicing	ENSG00000134508(ENST00000420687:exon1:c.50+2T>A)	.	.	4.10529984002121E-5	0.04
18	20735918	T	C	18	23155954	y	y	splicing	CABLES1(NM_138375:exon1:c.50+2T>C)	.	.	splicing	ENSG00000134508(ENST00000420687:exon1:c.50+2T>C)	.	.	3.80465223468383E-5	0.034
18	20735918	T	G	18	23155954	y	y	splicing	CABLES1(NM_138375:exon1:c.50+2T>G)	.	.	splicing	ENSG00000134508(ENST00000420687:exon1:c.50+2T>G)	.	.	3.80465223468383E-5	0.034
18	20735919	A	C	18	23155955	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	8.53292460361593E-5	0.044
18	20735919	A	G	18	23155955	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	8.53292460361593E-5	0.042
18	20735919	A	T	18	23155955	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.38113264713725E-5	0.042
18	20735920	A	C	18	23155956	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.24975915077222E-5	0.0
18	20735920	A	G	18	23155956	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.24975915077222E-5	0.0
18	20735920	A	T	18	23155956	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.24975915077222E-5	0.0
18	20735921	G	A	18	23155957	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.57076726553018E-5	0.0
18	20735921	G	C	18	23155957	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.57076726553018E-5	0.0
18	20735921	G	T	18	23155957	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.57076726553018E-5	0.0
18	20735922	T	A	18	23155958	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.76375603973572E-5	0.014
18	20735922	T	C	18	23155958	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.2541002007331E-5	0.014
18	20735922	T	G	18	23155958	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.2541002007331E-5	0.014
18	20735923	T	A	18	23155959	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	5.86075475573093E-5	0.002
18	20735923	T	C	18	23155959	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	7.83708300348738E-5	0.002
18	20735923	T	G	18	23155959	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	7.83708300348738E-5	0.004
18	20735924	G	A	18	23155960	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.73477007530828E-5	0.006
18	20735924	G	C	18	23155960	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.24015432087519E-5	0.002
18	20735924	G	T	18	23155960	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.73477007530828E-5	0.008
18	20768790	T	A	18	23188826	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.384061083216E-5	0.034
18	20768790	T	C	18	23188826	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	5.76500912604719E-5	0.006
18	20768790	T	G	18	23188826	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	8.37233714561771E-5	0.028
18	20768791	T	A	18	23188827	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.95332999351738E-4	0.084
18	20768791	T	C	18	23188827	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.94711569270208E-5	0.02
18	20768791	T	G	18	23188827	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.61446258139666E-5	0.052
18	20768792	C	A	18	23188828	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.9783536223698E-4	0.098
18	20768792	C	G	18	23188828	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.24109343954216E-5	0.016
18	20768792	C	T	18	23188828	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.70677481449805E-5	0.004
18	20768793	T	A	18	23188829	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00144156067384693	0.166
18	20768793	T	C	18	23188829	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.07934128942886E-4	0.008
18	20768793	T	G	18	23188829	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00128665503893249	0.146
18	20768794	T	A	18	23188830	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.76778476819257E-5	0.012
18	20768794	T	C	18	23188830	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.39032468885508E-5	0.0
18	20768794	T	G	18	23188830	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	5.5547997012744E-5	0.016
18	20768795	T	A	18	23188831	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	8.83235797336525E-4	0.208
18	20768795	T	C	18	23188831	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.28915153036944E-4	0.012
18	20768795	T	G	18	23188831	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.97878736283004E-4	0.086
18	20768796	C	A	18	23188832	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	7.57831543992865E-5	0.142
18	20768796	C	G	18	23188832	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	8.75131842925656E-5	0.176
18	20768796	C	T	18	23188832	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	2.35485265593126E-5	0.014
18	20768797	T	A	18	23188833	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.95488904496759	0.662
18	20768797	T	C	18	23188833	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	9.2064558228533E-4	0.034
18	20768797	T	G	18	23188833	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00355191550988464	0.25
18	20768798	G	A	18	23188834	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.31282489362792E-4	0.024
18	20768798	G	C	18	23188834	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.36395817264603E-4	0.044
18	20768798	G	T	18	23188834	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	5.23666186657245E-4	0.064
18	20768799	C	A	18	23188835	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.848050063057928	0.514
18	20768799	C	G	18	23188835	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999626231017475	0.928
18	20768799	C	T	18	23188835	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00175903355431841	0.142
18	20768800	A	C	18	23188836	y	y	splicing	CABLES1(NM_001100619:exon2:c.846-2A>C;NM_138375:exon2:c.51-2A>C)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.846-2A>C;ENST00000582882:exon2:c.185-2A>C;ENST00000420687:exon2:c.51-2A>C)	.	.	0.999988247793601	0.928
18	20768800	A	G	18	23188836	y	y	splicing	CABLES1(NM_001100619:exon2:c.846-2A>G;NM_138375:exon2:c.51-2A>G)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.846-2A>G;ENST00000582882:exon2:c.185-2A>G;ENST00000420687:exon2:c.51-2A>G)	.	.	0.999988247793601	0.928
18	20768800	A	T	18	23188836	y	y	splicing	CABLES1(NM_001100619:exon2:c.846-2A>T;NM_138375:exon2:c.51-2A>T)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.846-2A>T;ENST00000582882:exon2:c.185-2A>T;ENST00000420687:exon2:c.51-2A>T)	.	.	0.999988247793601	0.928
18	20768801	G	A	18	23188837	y	y	splicing	CABLES1(NM_001100619:exon2:c.846-1G>A;NM_138375:exon2:c.51-1G>A)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.846-1G>A;ENST00000582882:exon2:c.185-1G>A;ENST00000420687:exon2:c.51-1G>A)	.	.	0.999985532734767	0.936
18	20768801	G	C	18	23188837	y	y	splicing	CABLES1(NM_001100619:exon2:c.846-1G>C;NM_138375:exon2:c.51-1G>C)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.846-1G>C;ENST00000582882:exon2:c.185-1G>C;ENST00000420687:exon2:c.51-1G>C)	.	.	0.999985532734767	0.936
18	20768801	G	T	18	23188837	y	y	splicing	CABLES1(NM_001100619:exon2:c.846-1G>T;NM_138375:exon2:c.51-1G>T)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.846-1G>T;ENST00000582882:exon2:c.185-1G>T;ENST00000420687:exon2:c.51-1G>T)	.	.	0.999985532734767	0.936
18	20768802	A	C	18	23188838	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon2:c.A51C:p.I17I;CABLES1:NM_001100619:exon2:c.A846C:p.R282R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.A51C:p.I17I;ENSG00000134508:ENST00000256925:exon2:c.A846C:p.R282R;	2.73580984129677E-4	0.018
18	20768802	A	G	18	23188838	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon2:c.A51G:p.I17M;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.A51G:p.I17M;	5.5251568207117E-5	0.004
18	20768802	A	T	18	23188838	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon2:c.A51T:p.I17I;CABLES1:NM_001100619:exon2:c.A846T:p.R282R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.A51T:p.I17I;ENSG00000134508:ENST00000256925:exon2:c.A846T:p.R282R;	5.11589419478942E-4	0.014
18	20768803	C	A	18	23188839	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon2:c.C52A:p.R18R;CABLES1:NM_001100619:exon2:c.C847A:p.R283R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.C52A:p.R18R;ENSG00000134508:ENST00000256925:exon2:c.C847A:p.R283R;	0.972552396171717	0.698
18	20768803	C	G	18	23188839	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon2:c.C52G:p.R18G;CABLES1:NM_001100619:exon2:c.C847G:p.R283G;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.C52G:p.R18G;ENSG00000134508:ENST00000256925:exon2:c.C847G:p.R283G;	0.971851753714725	0.758
18	20768803	C	T	18	23188839	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon2:c.C52T:p.R18W;CABLES1:NM_001100619:exon2:c.C847T:p.R283W;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.C52T:p.R18W;ENSG00000134508:ENST00000256925:exon2:c.C847T:p.R283W;	0.979309347894521	0.87
18	20768871	G	A	18	23188907	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon2:c.G120A:p.R40R;CABLES1:NM_001100619:exon2:c.G915A:p.R305R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.G120A:p.R40R;ENSG00000134508:ENST00000256925:exon2:c.G915A:p.R305R;	0.00391800965560857	0.078
18	20768871	G	C	18	23188907	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon2:c.G120C:p.R40R;CABLES1:NM_001100619:exon2:c.G915C:p.R305R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.G120C:p.R40R;ENSG00000134508:ENST00000256925:exon2:c.G915C:p.R305R;	0.00209933960161032	0.072
18	20768871	G	T	18	23188907	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon2:c.G120T:p.R40R;CABLES1:NM_001100619:exon2:c.G915T:p.R305R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.G120T:p.R40R;ENSG00000134508:ENST00000256925:exon2:c.G915T:p.R305R;	0.0525606503833168	0.222
18	20768872	A	C	18	23188908	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon2:c.A121C:p.R41R;CABLES1:NM_001100619:exon2:c.A916C:p.R306R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.A121C:p.R41R;ENSG00000134508:ENST00000256925:exon2:c.A916C:p.R306R;	0.999499859322502	0.964
18	20768872	A	G	18	23188908	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon2:c.A121G:p.R41G;CABLES1:NM_001100619:exon2:c.A916G:p.R306G;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.A121G:p.R41G;ENSG00000134508:ENST00000256925:exon2:c.A916G:p.R306G;	0.999903123909984	1.0
18	20768872	A	T	18	23188908	y	y	exonic	CABLES1	stopgain SNV	CABLES1:NM_138375:exon2:c.A121T:p.R41X;CABLES1:NM_001100619:exon2:c.A916T:p.R306X;	exonic	ENSG00000134508	stopgain SNV	ENSG00000134508:ENST00000420687:exon2:c.A121T:p.R41X;ENSG00000134508:ENST00000256925:exon2:c.A916T:p.R306X;	0.99990267383583	0.998
18	20768873	G	A	18	23188909	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon2:c.G122A:p.R41K;CABLES1:NM_001100619:exon2:c.G917A:p.R306K;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.G122A:p.R41K;ENSG00000134508:ENST00000256925:exon2:c.G917A:p.R306K;	0.999987129364886	0.998
18	20768873	G	C	18	23188909	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon2:c.G122C:p.R41T;CABLES1:NM_001100619:exon2:c.G917C:p.R306T;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.G122C:p.R41T;ENSG00000134508:ENST00000256925:exon2:c.G917C:p.R306T;	0.999997031090812	1.0
18	20768873	G	T	18	23188909	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon2:c.G122T:p.R41I;CABLES1:NM_001100619:exon2:c.G917T:p.R306I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon2:c.G122T:p.R41I;ENSG00000134508:ENST00000256925:exon2:c.G917T:p.R306I;	0.999994093394155	1.0
18	20768874	G	A	18	23188910	y	y	splicing	CABLES1(NM_001100619:exon2:c.917+1G>A;NM_138375:exon2:c.122+1G>A)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.917+1G>A;ENST00000582882:exon2:c.256+1G>A;ENST00000420687:exon2:c.122+1G>A)	.	.	0.999989072007339	0.934
18	20768874	G	C	18	23188910	y	y	splicing	CABLES1(NM_001100619:exon2:c.917+1G>C;NM_138375:exon2:c.122+1G>C)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.917+1G>C;ENST00000582882:exon2:c.256+1G>C;ENST00000420687:exon2:c.122+1G>C)	.	.	0.999989072007339	0.934
18	20768874	G	T	18	23188910	y	y	splicing	CABLES1(NM_001100619:exon2:c.917+1G>T;NM_138375:exon2:c.122+1G>T)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.917+1G>T;ENST00000582882:exon2:c.256+1G>T;ENST00000420687:exon2:c.122+1G>T)	.	.	0.999989072007339	0.934
18	20768875	T	A	18	23188911	y	y	splicing	CABLES1(NM_001100619:exon2:c.917+2T>A;NM_138375:exon2:c.122+2T>A)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.917+2T>A;ENST00000582882:exon2:c.256+2T>A;ENST00000420687:exon2:c.122+2T>A)	.	.	0.999976497614174	0.88
18	20768875	T	C	18	23188911	y	y	splicing	CABLES1(NM_001100619:exon2:c.917+2T>C;NM_138375:exon2:c.122+2T>C)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.917+2T>C;ENST00000582882:exon2:c.256+2T>C;ENST00000420687:exon2:c.122+2T>C)	.	.	0.876585602145159	0.574
18	20768875	T	G	18	23188911	y	y	splicing	CABLES1(NM_001100619:exon2:c.917+2T>G;NM_138375:exon2:c.122+2T>G)	.	.	splicing	ENSG00000134508(ENST00000256925:exon2:c.917+2T>G;ENST00000582882:exon2:c.256+2T>G;ENST00000420687:exon2:c.122+2T>G)	.	.	0.999976497614174	0.884
18	20768876	A	C	18	23188912	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.997449075517748	0.73
18	20768876	A	G	18	23188912	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.790319107830656	0.66
18	20768876	A	T	18	23188912	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999135537098321	0.768
18	20768877	A	C	18	23188913	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.879560323778933	0.588
18	20768877	A	G	18	23188913	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.987599642917612	0.858
18	20768877	A	T	18	23188913	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.990129502565854	0.75
18	20768878	T	A	18	23188914	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.44932965833053E-4	0.024
18	20768878	T	C	18	23188914	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.18417177850556E-4	0.0
18	20768878	T	G	18	23188914	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	2.07334659597251E-4	0.046
18	20768879	T	A	18	23188915	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.214914452826914	0.286
18	20768879	T	C	18	23188915	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.722072335357064	0.434
18	20768879	T	G	18	23188915	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.0380249955834214	0.224
18	20768880	T	A	18	23188916	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	9.65180876250045E-5	0.004
18	20768880	T	C	18	23188916	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.41131913637888E-4	0.022
18	20768880	T	G	18	23188916	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.41131913637888E-4	0.044
18	20768881	T	A	18	23188917	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	2.60167268448883E-4	0.014
18	20768881	T	C	18	23188917	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	7.68081863812E-5	0.014
18	20768881	T	G	18	23188917	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.63274751867518E-5	0.012
18	20774400	T	A	18	23194436	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.10759548423058	0.402
18	20774400	T	C	18	23194436	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.83255811183981E-4	0.008
18	20774400	T	G	18	23194436	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.259920724063273	0.378
18	20774401	T	A	18	23194437	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.65360100564817	0.444
18	20774401	T	C	18	23194437	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00179659306296729	0.066
18	20774401	T	G	18	23194437	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.235290554363353	0.38
18	20774402	T	A	18	23194438	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.872238388728793	0.754
18	20774402	T	C	18	23194438	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00303957466906183	0.068
18	20774402	T	G	18	23194438	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.774606604375974	0.674
18	20774403	A	C	18	23194439	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	5.91774375632614E-5	0.006
18	20774403	A	G	18	23194439	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.58213895229553E-4	0.02
18	20774403	A	T	18	23194439	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.18945803227282E-5	0.002
18	20774404	T	A	18	23194440	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.885259753415808	0.574
18	20774404	T	C	18	23194440	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00506944682530313	0.2
18	20774404	T	G	18	23194440	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999903868739834	0.95
18	20774405	T	A	18	23194441	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.430793657847322	0.43
18	20774405	T	C	18	23194441	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.35023363912535E-4	0.0
18	20774405	T	G	18	23194441	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.219295043665933	0.368
18	20774406	T	A	18	23194442	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.994854176829367	0.88
18	20774406	T	C	18	23194442	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.0108202405326044	0.308
18	20774406	T	G	18	23194442	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.993220588456401	0.874
18	20774407	T	A	18	23194443	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.998232535694825	0.892
18	20774407	T	C	18	23194443	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.616710249614339	0.466
18	20774407	T	G	18	23194443	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.996412215280891	0.854
18	20774408	T	A	18	23194444	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.00125425962220345	0.002
18	20774408	T	C	18	23194444	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.83701443748241E-4	0.0
18	20774408	T	G	18	23194444	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	9.76410065967208E-5	0.0
18	20774409	C	A	18	23194445	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999553675469614	0.928
18	20774409	C	G	18	23194445	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999937857756447	0.968
18	20774409	C	T	18	23194445	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.994654612136623	0.366
18	20774410	A	C	18	23194446	y	y	splicing	CABLES1(NM_001100619:exon3:c.918-2A>C;NM_138375:exon3:c.123-2A>C)	.	.	splicing	ENSG00000134508(ENST00000256925:exon3:c.918-2A>C;ENST00000582882:exon3:c.257-2A>C;ENST00000420687:exon3:c.123-2A>C)	.	.	0.999988247793601	0.93
18	20774410	A	G	18	23194446	y	y	splicing	CABLES1(NM_001100619:exon3:c.918-2A>G;NM_138375:exon3:c.123-2A>G)	.	.	splicing	ENSG00000134508(ENST00000256925:exon3:c.918-2A>G;ENST00000582882:exon3:c.257-2A>G;ENST00000420687:exon3:c.123-2A>G)	.	.	0.999988247793601	0.93
18	20774410	A	T	18	23194446	y	y	splicing	CABLES1(NM_001100619:exon3:c.918-2A>T;NM_138375:exon3:c.123-2A>T)	.	.	splicing	ENSG00000134508(ENST00000256925:exon3:c.918-2A>T;ENST00000582882:exon3:c.257-2A>T;ENST00000420687:exon3:c.123-2A>T)	.	.	0.999988247793601	0.93
18	20774411	G	A	18	23194447	y	y	splicing	CABLES1(NM_001100619:exon3:c.918-1G>A;NM_138375:exon3:c.123-1G>A)	.	.	splicing	ENSG00000134508(ENST00000256925:exon3:c.918-1G>A;ENST00000582882:exon3:c.257-1G>A;ENST00000420687:exon3:c.123-1G>A)	.	.	0.999989072007339	0.934
18	20774411	G	C	18	23194447	y	y	splicing	CABLES1(NM_001100619:exon3:c.918-1G>C;NM_138375:exon3:c.123-1G>C)	.	.	splicing	ENSG00000134508(ENST00000256925:exon3:c.918-1G>C;ENST00000582882:exon3:c.257-1G>C;ENST00000420687:exon3:c.123-1G>C)	.	.	0.999989072007339	0.934
18	20774411	G	T	18	23194447	y	y	splicing	CABLES1(NM_001100619:exon3:c.918-1G>T;NM_138375:exon3:c.123-1G>T)	.	.	splicing	ENSG00000134508(ENST00000256925:exon3:c.918-1G>T;ENST00000582882:exon3:c.257-1G>T;ENST00000420687:exon3:c.123-1G>T)	.	.	0.999989072007339	0.934
18	20774412	A	C	18	23194448	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon3:c.A123C:p.R41S;CABLES1:NM_001100619:exon3:c.A918C:p.R306S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.A123C:p.R41S;ENSG00000134508:ENST00000256925:exon3:c.A918C:p.R306S;	0.1979947143959	0.572
18	20774412	A	G	18	23194448	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_138375:exon3:c.A123G:p.R41R;CABLES1:NM_001100619:exon3:c.A918G:p.R306R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.A123G:p.R41R;ENSG00000134508:ENST00000256925:exon3:c.A918G:p.R306R;	0.042085197193659	0.316
18	20774412	A	T	18	23194448	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon3:c.A123T:p.R41S;CABLES1:NM_001100619:exon3:c.A918T:p.R306S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.A123T:p.R41S;ENSG00000134508:ENST00000256925:exon3:c.A918T:p.R306S;	0.196054333037361	0.538
18	20774413	T	A	18	23194449	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon3:c.T124A:p.C42S;CABLES1:NM_001100619:exon3:c.T919A:p.C307S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.T124A:p.C42S;ENSG00000134508:ENST00000256925:exon3:c.T919A:p.C307S;	0.366155263612489	0.46
18	20774413	T	C	18	23194449	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon3:c.T124C:p.C42R;CABLES1:NM_001100619:exon3:c.T919C:p.C307R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.T124C:p.C42R;ENSG00000134508:ENST00000256925:exon3:c.T919C:p.C307R;	0.257666949234836	0.492
18	20774413	T	G	18	23194449	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_138375:exon3:c.T124G:p.C42G;CABLES1:NM_001100619:exon3:c.T919G:p.C307G;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.T124G:p.C42G;ENSG00000134508:ENST00000256925:exon3:c.T919G:p.C307G;	0.282716271605095	0.516
18	20774502	C	A	18	23194538	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon3:c.C27A:p.G9G;CABLES1:NM_138375:exon3:c.C213A:p.G71G;CABLES1:NM_001100619:exon3:c.C1008A:p.G336G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.C213A:p.G71G;ENSG00000134508:ENST00000400473:exon3:c.C27A:p.G9G;ENSG00000134508:ENST00000256925:exon3:c.C1008A:p.G336G;ENSG00000134508:ENST00000579963:exon3:c.C27A:p.G9G;ENSG00000134508:ENST00000580153:exon4:c.C27A:p.G9G;	0.123996109893742	0.22
18	20774502	C	G	18	23194538	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon3:c.C27G:p.G9G;CABLES1:NM_138375:exon3:c.C213G:p.G71G;CABLES1:NM_001100619:exon3:c.C1008G:p.G336G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.C213G:p.G71G;ENSG00000134508:ENST00000400473:exon3:c.C27G:p.G9G;ENSG00000134508:ENST00000256925:exon3:c.C1008G:p.G336G;ENSG00000134508:ENST00000579963:exon3:c.C27G:p.G9G;ENSG00000134508:ENST00000580153:exon4:c.C27G:p.G9G;	0.372027169893054	0.378
18	20774502	C	T	18	23194538	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon3:c.C27T:p.G9G;CABLES1:NM_138375:exon3:c.C213T:p.G71G;CABLES1:NM_001100619:exon3:c.C1008T:p.G336G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.C213T:p.G71G;ENSG00000134508:ENST00000400473:exon3:c.C27T:p.G9G;ENSG00000134508:ENST00000256925:exon3:c.C1008T:p.G336G;ENSG00000134508:ENST00000579963:exon3:c.C27T:p.G9G;ENSG00000134508:ENST00000580153:exon4:c.C27T:p.G9G;	0.992177804871723	0.882
18	20774503	A	C	18	23194539	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon3:c.A28C:p.R10R;CABLES1:NM_138375:exon3:c.A214C:p.R72R;CABLES1:NM_001100619:exon3:c.A1009C:p.R337R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.A214C:p.R72R;ENSG00000134508:ENST00000400473:exon3:c.A28C:p.R10R;ENSG00000134508:ENST00000256925:exon3:c.A1009C:p.R337R;ENSG00000134508:ENST00000579963:exon3:c.A28C:p.R10R;	0.99987676080228	0.998
18	20774503	A	G	18	23194539	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon3:c.A28G:p.R10G;CABLES1:NM_138375:exon3:c.A214G:p.R72G;CABLES1:NM_001100619:exon3:c.A1009G:p.R337G;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.A214G:p.R72G;ENSG00000134508:ENST00000400473:exon3:c.A28G:p.R10G;ENSG00000134508:ENST00000256925:exon3:c.A1009G:p.R337G;ENSG00000134508:ENST00000579963:exon3:c.A28G:p.R10G;	0.999921635306814	0.996
18	20774503	A	T	18	23194539	y	y	exonic	CABLES1	stopgain SNV	CABLES1:NM_001256438:exon3:c.A28T:p.R10X;CABLES1:NM_138375:exon3:c.A214T:p.R72X;CABLES1:NM_001100619:exon3:c.A1009T:p.R337X;	exonic	ENSG00000134508	stopgain SNV	ENSG00000134508:ENST00000420687:exon3:c.A214T:p.R72X;ENSG00000134508:ENST00000400473:exon3:c.A28T:p.R10X;ENSG00000134508:ENST00000256925:exon3:c.A1009T:p.R337X;ENSG00000134508:ENST00000579963:exon3:c.A28T:p.R10X;	0.99995295383932	1.0
18	20774504	G	A	18	23194540	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon3:c.G29A:p.R10K;CABLES1:NM_138375:exon3:c.G215A:p.R72K;CABLES1:NM_001100619:exon3:c.G1010A:p.R337K;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.G215A:p.R72K;ENSG00000134508:ENST00000400473:exon3:c.G29A:p.R10K;ENSG00000134508:ENST00000256925:exon3:c.G1010A:p.R337K;ENSG00000134508:ENST00000579963:exon3:c.G29A:p.R10K;	0.999989772371009	0.992
18	20774504	G	C	18	23194540	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon3:c.G29C:p.R10T;CABLES1:NM_138375:exon3:c.G215C:p.R72T;CABLES1:NM_001100619:exon3:c.G1010C:p.R337T;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.G215C:p.R72T;ENSG00000134508:ENST00000400473:exon3:c.G29C:p.R10T;ENSG00000134508:ENST00000256925:exon3:c.G1010C:p.R337T;ENSG00000134508:ENST00000579963:exon3:c.G29C:p.R10T;	0.999997007324834	1.0
18	20774504	G	T	18	23194540	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon3:c.G29T:p.R10I;CABLES1:NM_138375:exon3:c.G215T:p.R72I;CABLES1:NM_001100619:exon3:c.G1010T:p.R337I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon3:c.G215T:p.R72I;ENSG00000134508:ENST00000400473:exon3:c.G29T:p.R10I;ENSG00000134508:ENST00000256925:exon3:c.G1010T:p.R337I;ENSG00000134508:ENST00000579963:exon3:c.G29T:p.R10I;	0.999990641641815	0.952
18	20774505	G	A	18	23194541	y	y	splicing	CABLES1(NM_001256438:exon3:c.29+1G>A;NM_001100619:exon3:c.1010+1G>A;NM_138375:exon3:c.215+1G>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon3:c.29+1G>A;ENST00000400473:exon3:c.29+1G>A;ENST00000256925:exon3:c.1010+1G>A;ENST00000582882:exon3:c.349+1G>A;ENST00000420687:exon3:c.215+1G>A)	.	.	0.999989072007339	0.926
18	20774505	G	C	18	23194541	y	y	splicing	CABLES1(NM_001256438:exon3:c.29+1G>C;NM_001100619:exon3:c.1010+1G>C;NM_138375:exon3:c.215+1G>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon3:c.29+1G>C;ENST00000400473:exon3:c.29+1G>C;ENST00000256925:exon3:c.1010+1G>C;ENST00000582882:exon3:c.349+1G>C;ENST00000420687:exon3:c.215+1G>C)	.	.	0.999989072007339	0.926
18	20774505	G	T	18	23194541	y	y	splicing	CABLES1(NM_001256438:exon3:c.29+1G>T;NM_001100619:exon3:c.1010+1G>T;NM_138375:exon3:c.215+1G>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon3:c.29+1G>T;ENST00000400473:exon3:c.29+1G>T;ENST00000256925:exon3:c.1010+1G>T;ENST00000582882:exon3:c.349+1G>T;ENST00000420687:exon3:c.215+1G>T)	.	.	0.999989072007339	0.926
18	20774506	T	A	18	23194542	y	y	splicing	CABLES1(NM_001256438:exon3:c.29+2T>A;NM_001100619:exon3:c.1010+2T>A;NM_138375:exon3:c.215+2T>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon3:c.29+2T>A;ENST00000400473:exon3:c.29+2T>A;ENST00000256925:exon3:c.1010+2T>A;ENST00000582882:exon3:c.349+2T>A;ENST00000420687:exon3:c.215+2T>A)	.	.	0.999988247793601	0.922
18	20774506	T	C	18	23194542	y	y	splicing	CABLES1(NM_001256438:exon3:c.29+2T>C;NM_001100619:exon3:c.1010+2T>C;NM_138375:exon3:c.215+2T>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon3:c.29+2T>C;ENST00000400473:exon3:c.29+2T>C;ENST00000256925:exon3:c.1010+2T>C;ENST00000582882:exon3:c.349+2T>C;ENST00000420687:exon3:c.215+2T>C)	.	.	0.991057824102482	0.666
18	20774506	T	G	18	23194542	y	y	splicing	CABLES1(NM_001256438:exon3:c.29+2T>G;NM_001100619:exon3:c.1010+2T>G;NM_138375:exon3:c.215+2T>G)	.	.	splicing	ENSG00000134508(ENST00000579963:exon3:c.29+2T>G;ENST00000400473:exon3:c.29+2T>G;ENST00000256925:exon3:c.1010+2T>G;ENST00000582882:exon3:c.349+2T>G;ENST00000420687:exon3:c.215+2T>G)	.	.	0.999988247793601	0.922
18	20774507	A	C	18	23194543	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999936438192503	0.954
18	20774507	A	G	18	23194543	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.998570558650634	0.924
18	20774507	A	T	18	23194543	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	0.999943933581797	0.962
18	20774508	C	A	18	23194544	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.63605147831032E-5	0.02
18	20774508	C	G	18	23194544	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.41003434236557E-4	0.064
18	20774508	C	T	18	23194544	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	2.4996053970785E-4	0.044
18	20774509	T	A	18	23194545	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	5.59684910247607E-5	0.016
18	20774509	T	C	18	23194545	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	6.38329963333101E-5	0.006
18	20774509	T	G	18	23194545	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.48052646111531E-4	0.078
18	20774510	A	C	18	23194546	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	8.8199617179072E-5	0.058
18	20774510	A	G	18	23194546	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	2.75386948832083E-5	0.014
18	20774510	A	T	18	23194546	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	3.49673160604699E-5	0.016
18	20774511	C	A	18	23194547	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	2.56239768287084E-4	0.03
18	20774511	C	G	18	23194547	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	4.63497727055789E-5	0.0
18	20774511	C	T	18	23194547	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.25950902157695E-4	0.002
18	20774512	A	C	18	23194548	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.08882707724309E-5	0.0
18	20774512	A	G	18	23194548	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.08882707724309E-5	0.0
18	20774512	A	T	18	23194548	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134508	.	.	1.34100185927528E-5	0.0
18	20778053	C	A	18	23198089	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.0288925866825E-5	0.0
18	20778053	C	G	18	23198089	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.0288925866825E-5	0.0
18	20778053	C	T	18	23198089	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.0288925866825E-5	0.0
18	20778054	T	A	18	23198090	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.12288223045236E-5	0.002
18	20778054	T	C	18	23198090	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.12288223045236E-5	0.002
18	20778054	T	G	18	23198090	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.12288223045236E-5	0.002
18	20778055	C	A	18	23198091	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon17:c.593-1G>T;ENST00000581444:exon17:c.989-1G>T)	.	.	1.69884688945688E-4	0.01
18	20778055	C	G	18	23198091	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon17:c.593-1G>C;ENST00000581444:exon17:c.989-1G>C)	.	.	2.27163650926202E-4	0.11
18	20778055	C	T	18	23198091	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon17:c.593-1G>A;ENST00000581444:exon17:c.989-1G>A)	.	.	1.69884688945688E-4	0.01
18	20778056	T	A	18	23198092	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon17:c.593-2A>T;ENST00000581444:exon17:c.989-2A>T)	.	.	5.24642887656211E-5	0.008
18	20778056	T	C	18	23198092	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon17:c.593-2A>G;ENST00000581444:exon17:c.989-2A>G)	.	.	2.52408140331421E-5	0.008
18	20778056	T	G	18	23198092	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon17:c.593-2A>C;ENST00000581444:exon17:c.989-2A>C)	.	.	2.52408140331421E-5	0.008
18	20778057	A	C	18	23198093	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.7625743089426E-5	0.016
18	20778057	A	G	18	23198093	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.7625743089426E-5	0.016
18	20778057	A	T	18	23198093	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.7625743089426E-5	0.016
18	20778058	C	A	18	23198094	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.19654958573966E-5	0.016
18	20778058	C	G	18	23198094	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.19654958573966E-5	0.02
18	20778058	C	T	18	23198094	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	9.57123356397867E-5	0.032
18	20778059	A	C	18	23198095	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.43601530502877E-5	0.01
18	20778059	A	G	18	23198095	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.43601530502877E-5	0.01
18	20778059	A	T	18	23198095	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.43601530502877E-5	0.01
18	20778060	A	C	18	23198096	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.43601530502877E-5	0.01
18	20778060	A	G	18	23198096	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.43601530502877E-5	0.01
18	20778060	A	T	18	23198096	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.43601530502877E-5	0.01
18	20778061	A	C	18	23198097	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.2694790039333E-6	0.002
18	20778061	A	G	18	23198097	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.2694790039333E-6	0.002
18	20778061	A	T	18	23198097	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.12288223045236E-5	0.002
18	20778062	A	C	18	23198098	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.7625743089426E-5	0.016
18	20778062	A	G	18	23198098	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.7625743089426E-5	0.016
18	20778062	A	T	18	23198098	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.7625743089426E-5	0.016
18	20778063	A	C	18	23198099	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.60509126160735E-4	0.022
18	20778063	A	G	18	23198099	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.60509126160735E-4	0.022
18	20778063	A	T	18	23198099	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.20034981273023E-4	0.032
18	20778064	A	C	18	23198100	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.12288223045236E-5	0.002
18	20778064	A	G	18	23198100	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.12288223045236E-5	0.002
18	20778064	A	T	18	23198100	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.52408140331421E-5	0.008
18	20778065	A	C	18	23198101	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.12288223045236E-5	0.002
18	20778065	A	G	18	23198101	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.12288223045236E-5	0.002
18	20778065	A	T	18	23198101	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.52408140331421E-5	0.008
18	20778066	A	C	18	23198102	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.78864525412067E-5	0.0
18	20778066	A	G	18	23198102	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.78864525412067E-5	0.0
18	20778066	A	T	18	23198102	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.78864525412067E-5	0.0
18	20793929	T	A	18	23213965	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.698634958328006	0.614
18	20793929	T	C	18	23213965	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.411211421100009	0.542
18	20793929	T	G	18	23213965	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.738217974625866	0.58
18	20793930	T	A	18	23213966	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0050451654763496	0.294
18	20793930	T	C	18	23213966	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00949191454534625	0.172
18	20793930	T	G	18	23213966	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00525847846977713	0.264
18	20793931	T	A	18	23213967	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00403114886159585	0.14
18	20793931	T	C	18	23213967	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00700892502712041	0.094
18	20793931	T	G	18	23213967	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00344142586491367	0.138
18	20793932	A	C	18	23213968	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.00097275128977E-5	0.036
18	20793932	A	G	18	23213968	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.45703234946388E-5	0.02
18	20793932	A	T	18	23213968	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.12570109902042E-5	0.05
18	20793933	T	A	18	23213969	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.31233444810047E-4	0.106
18	20793933	T	C	18	23213969	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.28579860675306E-5	0.112
18	20793933	T	G	18	23213969	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.841095885897567	0.894
18	20793934	T	A	18	23213970	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00267268884909677	0.06
18	20793934	T	C	18	23213970	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.01737975174778E-4	0.004
18	20793934	T	G	18	23213970	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00305155323939027	0.056
18	20793935	T	A	18	23213971	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.130356112552404	0.354
18	20793935	T	C	18	23213971	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0138518092958992	0.118
18	20793935	T	G	18	23213971	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0991819647873515	0.35
18	20793936	T	A	18	23213972	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0795661493909007	0.414
18	20793936	T	C	18	23213972	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0156751731963391	0.148
18	20793936	T	G	18	23213972	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0778757326971384	0.43
18	20793937	T	A	18	23213973	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.87274596960777E-4	0.026
18	20793937	T	C	18	23213973	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.3693190311836E-4	0.004
18	20793937	T	G	18	23213973	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.811681246651E-4	0.004
18	20793938	T	A	18	23213974	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.858693213293472	0.506
18	20793938	T	C	18	23213974	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0451293527245731	0.14
18	20793938	T	G	18	23213974	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.997086449533009	0.874
18	20793939	A	C	18	23213975	y	y	splicing	CABLES1(NM_001256438:exon4:c.30-2A>C;NM_001100619:exon4:c.1011-2A>C;NM_138375:exon4:c.216-2A>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon4:c.30-2A>C;ENST00000400473:exon4:c.30-2A>C;ENST00000256925:exon4:c.1011-2A>C;ENST00000582882:exon4:c.350-2A>C;ENST00000420687:exon4:c.216-2A>C)	.	.	0.999988247793601	0.932
18	20793939	A	G	18	23213975	y	y	splicing	CABLES1(NM_001256438:exon4:c.30-2A>G;NM_001100619:exon4:c.1011-2A>G;NM_138375:exon4:c.216-2A>G)	.	.	splicing	ENSG00000134508(ENST00000579963:exon4:c.30-2A>G;ENST00000400473:exon4:c.30-2A>G;ENST00000256925:exon4:c.1011-2A>G;ENST00000582882:exon4:c.350-2A>G;ENST00000420687:exon4:c.216-2A>G)	.	.	0.999988247793601	0.932
18	20793939	A	T	18	23213975	y	y	splicing	CABLES1(NM_001256438:exon4:c.30-2A>T;NM_001100619:exon4:c.1011-2A>T;NM_138375:exon4:c.216-2A>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon4:c.30-2A>T;ENST00000400473:exon4:c.30-2A>T;ENST00000256925:exon4:c.1011-2A>T;ENST00000582882:exon4:c.350-2A>T;ENST00000420687:exon4:c.216-2A>T)	.	.	0.999988247793601	0.932
18	20793940	G	A	18	23213976	y	y	splicing	CABLES1(NM_001256438:exon4:c.30-1G>A;NM_001100619:exon4:c.1011-1G>A;NM_138375:exon4:c.216-1G>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon4:c.30-1G>A;ENST00000400473:exon4:c.30-1G>A;ENST00000256925:exon4:c.1011-1G>A;ENST00000582882:exon4:c.350-1G>A;ENST00000420687:exon4:c.216-1G>A)	.	.	0.999989072007339	0.934
18	20793940	G	C	18	23213976	y	y	splicing	CABLES1(NM_001256438:exon4:c.30-1G>C;NM_001100619:exon4:c.1011-1G>C;NM_138375:exon4:c.216-1G>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon4:c.30-1G>C;ENST00000400473:exon4:c.30-1G>C;ENST00000256925:exon4:c.1011-1G>C;ENST00000582882:exon4:c.350-1G>C;ENST00000420687:exon4:c.216-1G>C)	.	.	0.999989072007339	0.934
18	20793940	G	T	18	23213976	y	y	splicing	CABLES1(NM_001256438:exon4:c.30-1G>T;NM_001100619:exon4:c.1011-1G>T;NM_138375:exon4:c.216-1G>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon4:c.30-1G>T;ENST00000400473:exon4:c.30-1G>T;ENST00000256925:exon4:c.1011-1G>T;ENST00000582882:exon4:c.350-1G>T;ENST00000420687:exon4:c.216-1G>T)	.	.	0.999989072007339	0.934
18	20793941	A	C	18	23213977	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.A30C:p.R10S;CABLES1:NM_138375:exon4:c.A216C:p.R72S;CABLES1:NM_001100619:exon4:c.A1011C:p.R337S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.A216C:p.R72S;ENSG00000134508:ENST00000400473:exon4:c.A30C:p.R10S;ENSG00000134508:ENST00000256925:exon4:c.A1011C:p.R337S;ENSG00000134508:ENST00000579963:exon4:c.A30C:p.R10S;	0.410744811572511	0.614
18	20793941	A	G	18	23213977	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon4:c.A30G:p.R10R;CABLES1:NM_138375:exon4:c.A216G:p.R72R;CABLES1:NM_001100619:exon4:c.A1011G:p.R337R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.A216G:p.R72R;ENSG00000134508:ENST00000400473:exon4:c.A30G:p.R10R;ENSG00000134508:ENST00000256925:exon4:c.A1011G:p.R337R;ENSG00000134508:ENST00000579963:exon4:c.A30G:p.R10R;	0.401654542653245	0.51
18	20793941	A	T	18	23213977	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.A30T:p.R10S;CABLES1:NM_138375:exon4:c.A216T:p.R72S;CABLES1:NM_001100619:exon4:c.A1011T:p.R337S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.A216T:p.R72S;ENSG00000134508:ENST00000400473:exon4:c.A30T:p.R10S;ENSG00000134508:ENST00000256925:exon4:c.A1011T:p.R337S;ENSG00000134508:ENST00000579963:exon4:c.A30T:p.R10S;	0.461065795604233	0.506
18	20793942	A	C	18	23213978	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.A31C:p.I11L;CABLES1:NM_138375:exon4:c.A217C:p.I73L;CABLES1:NM_001100619:exon4:c.A1012C:p.I338L;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.A217C:p.I73L;ENSG00000134508:ENST00000400473:exon4:c.A31C:p.I11L;ENSG00000134508:ENST00000256925:exon4:c.A1012C:p.I338L;ENSG00000134508:ENST00000579963:exon4:c.A31C:p.I11L;	0.869907745367353	0.764
18	20793942	A	G	18	23213978	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.A31G:p.I11V;CABLES1:NM_138375:exon4:c.A217G:p.I73V;CABLES1:NM_001100619:exon4:c.A1012G:p.I338V;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.A217G:p.I73V;ENSG00000134508:ENST00000400473:exon4:c.A31G:p.I11V;ENSG00000134508:ENST00000256925:exon4:c.A1012G:p.I338V;ENSG00000134508:ENST00000579963:exon4:c.A31G:p.I11V;	0.885968923177087	0.59
18	20793942	A	T	18	23213978	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.A31T:p.I11L;CABLES1:NM_138375:exon4:c.A217T:p.I73L;CABLES1:NM_001100619:exon4:c.A1012T:p.I338L;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.A217T:p.I73L;ENSG00000134508:ENST00000400473:exon4:c.A31T:p.I11L;ENSG00000134508:ENST00000256925:exon4:c.A1012T:p.I338L;ENSG00000134508:ENST00000579963:exon4:c.A31T:p.I11L;	0.836932940265346	0.718
18	20794016	C	A	18	23214052	y	n	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon4:c.C105A:p.V35V;CABLES1:NM_138375:exon4:c.C291A:p.V97V;CABLES1:NM_001100619:exon4:c.C1086A:p.V362V;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.C291A:p.V97V;ENSG00000134508:ENST00000400473:exon4:c.C105A:p.V35V;ENSG00000134508:ENST00000256925:exon4:c.C1086A:p.V362V;ENSG00000134508:ENST00000579963:exon4:c.C105A:p.V35V;	6.64182013740998E-4	0.014
18	20794016	C	G	18	23214052	y	n	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon4:c.C105G:p.V35V;CABLES1:NM_138375:exon4:c.C291G:p.V97V;CABLES1:NM_001100619:exon4:c.C1086G:p.V362V;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.C291G:p.V97V;ENSG00000134508:ENST00000400473:exon4:c.C105G:p.V35V;ENSG00000134508:ENST00000256925:exon4:c.C1086G:p.V362V;ENSG00000134508:ENST00000579963:exon4:c.C105G:p.V35V;	3.5335098402593E-4	0.024
18	20794016	C	T	18	23214052	y	n	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon4:c.C105T:p.V35V;CABLES1:NM_138375:exon4:c.C291T:p.V97V;CABLES1:NM_001100619:exon4:c.C1086T:p.V362V;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.C291T:p.V97V;ENSG00000134508:ENST00000400473:exon4:c.C105T:p.V35V;ENSG00000134508:ENST00000256925:exon4:c.C1086T:p.V362V;ENSG00000134508:ENST00000579963:exon4:c.C105T:p.V35V;	0.00974635263150415	0.334
18	20794017	G	A	18	23214053	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.G106A:p.G36R;CABLES1:NM_138375:exon4:c.G292A:p.G98R;CABLES1:NM_001100619:exon4:c.G1087A:p.G363R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.G292A:p.G98R;ENSG00000134508:ENST00000400473:exon4:c.G106A:p.G36R;ENSG00000134508:ENST00000256925:exon4:c.G1087A:p.G363R;ENSG00000134508:ENST00000579963:exon4:c.G106A:p.G36R;	0.967473940754124	0.682
18	20794017	G	C	18	23214053	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.G106C:p.G36R;CABLES1:NM_138375:exon4:c.G292C:p.G98R;CABLES1:NM_001100619:exon4:c.G1087C:p.G363R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.G292C:p.G98R;ENSG00000134508:ENST00000400473:exon4:c.G106C:p.G36R;ENSG00000134508:ENST00000256925:exon4:c.G1087C:p.G363R;ENSG00000134508:ENST00000579963:exon4:c.G106C:p.G36R;	0.989303045403152	0.906
18	20794017	G	T	18	23214053	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.G106T:p.G36W;CABLES1:NM_138375:exon4:c.G292T:p.G98W;CABLES1:NM_001100619:exon4:c.G1087T:p.G363W;	exonic	ENSG00000134508	stopgain SNV	ENSG00000134508:ENST00000579963:exon4:c.G106T:p.G36X;	0.991890332557062	0.892
18	20794018	G	A	18	23214054	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.G107A:p.G36E;CABLES1:NM_138375:exon4:c.G293A:p.G98E;CABLES1:NM_001100619:exon4:c.G1088A:p.G363E;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.G293A:p.G98E;ENSG00000134508:ENST00000400473:exon4:c.G107A:p.G36E;ENSG00000134508:ENST00000256925:exon4:c.G1088A:p.G363E;ENSG00000134508:ENST00000579963:exon4:c.G107A:p.G36E;	0.999969921423353	0.992
18	20794018	G	C	18	23214054	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.G107C:p.G36A;CABLES1:NM_138375:exon4:c.G293C:p.G98A;CABLES1:NM_001100619:exon4:c.G1088C:p.G363A;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.G293C:p.G98A;ENSG00000134508:ENST00000400473:exon4:c.G107C:p.G36A;ENSG00000134508:ENST00000256925:exon4:c.G1088C:p.G363A;ENSG00000134508:ENST00000579963:exon4:c.G107C:p.G36A;	0.999994361499125	0.97
18	20794018	G	T	18	23214054	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon4:c.G107T:p.G36V;CABLES1:NM_138375:exon4:c.G293T:p.G98V;CABLES1:NM_001100619:exon4:c.G1088T:p.G363V;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon4:c.G293T:p.G98V;ENSG00000134508:ENST00000400473:exon4:c.G107T:p.G36V;ENSG00000134508:ENST00000256925:exon4:c.G1088T:p.G363V;ENSG00000134508:ENST00000579963:exon4:c.G107T:p.G36V;	0.999990770036306	0.998
18	20794019	G	A	18	23214055	y	n	splicing	CABLES1(NM_001256438:exon4:c.107+1G>A;NM_001100619:exon4:c.1088+1G>A;NM_138375:exon4:c.293+1G>A)	.	.	exonic;splicing	ENSG00000134508;ENSG00000134508(ENST00000579963:exon4:c.107+1G>A;ENST00000400473:exon4:c.107+1G>A;ENST00000256925:exon4:c.1088+1G>A;ENST00000420687:exon4:c.293+1G>A)	unknown	UNKNOWN	0.999991783345782	0.932
18	20794019	G	C	18	23214055	y	n	splicing	CABLES1(NM_001256438:exon4:c.107+1G>C;NM_001100619:exon4:c.1088+1G>C;NM_138375:exon4:c.293+1G>C)	.	.	exonic;splicing	ENSG00000134508;ENSG00000134508(ENST00000579963:exon4:c.107+1G>C;ENST00000400473:exon4:c.107+1G>C;ENST00000256925:exon4:c.1088+1G>C;ENST00000420687:exon4:c.293+1G>C)	unknown	UNKNOWN	0.999991783345782	0.932
18	20794019	G	T	18	23214055	y	n	splicing	CABLES1(NM_001256438:exon4:c.107+1G>T;NM_001100619:exon4:c.1088+1G>T;NM_138375:exon4:c.293+1G>T)	.	.	exonic;splicing	ENSG00000134508;ENSG00000134508(ENST00000579963:exon4:c.107+1G>T;ENST00000400473:exon4:c.107+1G>T;ENST00000256925:exon4:c.1088+1G>T;ENST00000420687:exon4:c.293+1G>T)	unknown	UNKNOWN	0.999991783345782	0.932
18	20794020	T	A	18	23214056	y	n	splicing	CABLES1(NM_001256438:exon4:c.107+2T>A;NM_001100619:exon4:c.1088+2T>A;NM_138375:exon4:c.293+2T>A)	.	.	exonic;splicing	ENSG00000134508;ENSG00000134508(ENST00000579963:exon4:c.107+2T>A;ENST00000400473:exon4:c.107+2T>A;ENST00000256925:exon4:c.1088+2T>A;ENST00000420687:exon4:c.293+2T>A)	unknown	UNKNOWN	0.999988247793601	0.93
18	20794020	T	C	18	23214056	y	n	splicing	CABLES1(NM_001256438:exon4:c.107+2T>C;NM_001100619:exon4:c.1088+2T>C;NM_138375:exon4:c.293+2T>C)	.	.	exonic;splicing	ENSG00000134508;ENSG00000134508(ENST00000579963:exon4:c.107+2T>C;ENST00000400473:exon4:c.107+2T>C;ENST00000256925:exon4:c.1088+2T>C;ENST00000420687:exon4:c.293+2T>C)	unknown	UNKNOWN	0.996218475494576	0.702
18	20794020	T	G	18	23214056	y	n	splicing	CABLES1(NM_001256438:exon4:c.107+2T>G;NM_001100619:exon4:c.1088+2T>G;NM_138375:exon4:c.293+2T>G)	.	.	exonic;splicing	ENSG00000134508;ENSG00000134508(ENST00000579963:exon4:c.107+2T>G;ENST00000400473:exon4:c.107+2T>G;ENST00000256925:exon4:c.1088+2T>G;ENST00000420687:exon4:c.293+2T>G)	unknown	UNKNOWN	0.999988247793601	0.93
18	20794021	A	C	18	23214057	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.999901035483406	0.836
18	20794021	A	G	18	23214057	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.999844010413376	0.958
18	20794021	A	T	18	23214057	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.999819756530954	0.9
18	20794022	T	A	18	23214058	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	6.34972565152418E-4	0.138
18	20794022	T	C	18	23214058	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.0216556384932077	0.13
18	20794022	T	G	18	23214058	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	8.43804652614789E-4	0.054
18	20794023	G	A	18	23214059	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.999981721373572	0.992
18	20794023	G	C	18	23214059	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.999989494837462	0.964
18	20794023	G	T	18	23214059	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.999986450600679	0.962
18	20794024	T	A	18	23214060	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.999423598379631	0.838
18	20794024	T	C	18	23214060	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.998095135146236	0.776
18	20794024	T	G	18	23214060	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.998932293078865	0.788
18	20794025	A	C	18	23214061	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.858861561570318	0.502
18	20794025	A	G	18	23214061	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.85795005769865	0.504
18	20794025	A	T	18	23214061	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.978708499773764	0.528
18	20794026	T	A	18	23214062	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.0117767842217485	0.112
18	20794026	T	C	18	23214062	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.0265646343503938	0.136
18	20794026	T	G	18	23214062	y	n	intronic	CABLES1	.	.	exonic	ENSG00000134508	unknown	UNKNOWN	0.00514108932709721	0.086
18	20799087	T	A	18	23219123	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.87872098031522E-5	0.0
18	20799087	T	C	18	23219123	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.15849948155271E-5	0.0
18	20799087	T	G	18	23219123	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.15849948155271E-5	0.0
18	20799088	C	A	18	23219124	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.07620641825897E-5	0.0
18	20799088	C	G	18	23219124	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.07620641825897E-5	0.0
18	20799088	C	T	18	23219124	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.07620641825897E-5	0.0
18	20799089	A	C	18	23219125	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.96404089075045E-5	0.008
18	20799089	A	G	18	23219125	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.96404089075045E-5	0.012
18	20799089	A	T	18	23219125	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.96404089075045E-5	0.002
18	20799090	C	A	18	23219126	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.80465223468383E-5	0.006
18	20799090	C	G	18	23219126	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.4631346304159E-5	0.006
18	20799090	C	T	18	23219126	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.80465223468383E-5	0.006
18	20799091	T	A	18	23219127	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.64726965068443E-5	0.002
18	20799091	T	C	18	23219127	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.21441922682638E-5	0.018
18	20799091	T	G	18	23219127	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.21441922682638E-5	0.018
18	20799092	C	A	18	23219128	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.29086443542005E-5	0.0
18	20799092	C	G	18	23219128	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.29086443542005E-5	0.0
18	20799092	C	T	18	23219128	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.62993125928192E-5	0.0
18	20799093	A	C	18	23219129	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.592+2T>G;ENST00000581444:exon16:c.988+2T>G)	.	.	3.07620641825897E-5	0.0
18	20799093	A	G	18	23219129	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.592+2T>C;ENST00000581444:exon16:c.988+2T>C)	.	.	3.07620641825897E-5	0.0
18	20799093	A	T	18	23219129	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.592+2T>A;ENST00000581444:exon16:c.988+2T>A)	.	.	3.07620641825897E-5	0.0
18	20799094	C	A	18	23219130	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.592+1G>T;ENST00000581444:exon16:c.988+1G>T)	.	.	4.52932449848953E-5	0.004
18	20799094	C	G	18	23219130	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.592+1G>C;ENST00000581444:exon16:c.988+1G>C)	.	.	4.52932449848953E-5	0.006
18	20799094	C	T	18	23219130	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.592+1G>A;ENST00000581444:exon16:c.988+1G>A)	.	.	4.52932449848953E-5	0.004
18	20799095	C	A	18	23219131	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	3.80465223468383E-5	0.01
18	20799095	C	G	18	23219131	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	2.4631346304159E-5	0.01
18	20799095	C	T	18	23219131	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	3.80465223468383E-5	0.01
18	20799096	T	A	18	23219132	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.46004206284423E-5	0.0
18	20799096	T	C	18	23219132	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.46004206284423E-5	0.0
18	20799096	T	G	18	23219132	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	1.46004206284423E-5	0.0
18	20799097	G	A	18	23219133	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	2.45277156108894E-5	0.0
18	20799097	G	C	18	23219133	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	2.45277156108894E-5	0.0
18	20799097	G	T	18	23219133	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	2.45277156108894E-5	0.0
18	20799218	G	A	18	23219254	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	2.45277156108894E-5	0.002
18	20799218	G	C	18	23219254	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	2.45277156108894E-5	0.002
18	20799218	G	T	18	23219254	n	y	intronic	CABLES1	.	.	UTR3	ENSG00000134490	.	.	2.45277156108894E-5	0.002
18	20799219	T	A	18	23219255	n	y	intronic	CABLES1	.	.	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000450466:exon15:c.A468T:p.X156C;	1.97645374511987E-5	0.058
18	20799219	T	C	18	23219255	n	y	intronic	CABLES1	.	.	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000450466:exon15:c.A468G:p.X156W;	1.97645374511987E-5	0.086
18	20799219	T	G	18	23219255	n	y	intronic	CABLES1	.	.	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000450466:exon15:c.A468C:p.X156C;	1.97645374511987E-5	0.086
18	20799220	C	A	18	23219256	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.468-1G>T;ENST00000581444:exon16:c.864-1G>T)	.	.	9.35302975084616E-5	0.028
18	20799220	C	G	18	23219256	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.468-1G>C;ENST00000581444:exon16:c.864-1G>C)	.	.	3.94046795788308E-5	0.024
18	20799220	C	T	18	23219256	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.468-1G>A;ENST00000581444:exon16:c.864-1G>A)	.	.	9.35302975084616E-5	0.026
18	20799221	T	A	18	23219257	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.468-2A>T;ENST00000581444:exon16:c.864-2A>T)	.	.	4.59797615271383E-5	0.004
18	20799221	T	C	18	23219257	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.468-2A>G;ENST00000581444:exon16:c.864-2A>G)	.	.	6.14850402615726E-5	0.0
18	20799221	T	G	18	23219257	n	y	intronic	CABLES1	.	.	splicing	ENSG00000134490(ENST00000450466:exon16:c.468-2A>C;ENST00000581444:exon16:c.864-2A>C)	.	.	6.14850402615726E-5	0.0
18	20799222	G	A	18	23219258	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.41966287685281E-4	0.0
18	20799222	G	C	18	23219258	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.39429174022201E-5	0.0
18	20799222	G	T	18	23219258	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.5017971459953E-4	0.076
18	20799223	A	C	18	23219259	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.4631346304159E-5	0.034
18	20799223	A	G	18	23219259	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.4631346304159E-5	0.034
18	20799223	A	T	18	23219259	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.4631346304159E-5	0.034
18	20799224	G	A	18	23219260	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.00072023146173E-5	0.008
18	20799224	G	C	18	23219260	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.59007098514123E-5	0.046
18	20799224	G	T	18	23219260	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.59007098514123E-5	0.018
18	20799225	T	A	18	23219261	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.28285392482944E-4	0.038
18	20799225	T	C	18	23219261	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.40482239652621E-5	0.038
18	20799225	T	G	18	23219261	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.40482239652621E-5	0.038
18	20799226	A	C	18	23219262	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.10813846295192E-5	0.002
18	20799226	A	G	18	23219262	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.10813846295192E-5	0.002
18	20799226	A	T	18	23219262	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.10813846295192E-5	0.002
18	20799227	G	A	18	23219263	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.13974547437822E-4	0.03
18	20799227	G	C	18	23219263	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.13974547437822E-4	0.036
18	20799227	G	T	18	23219263	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.13974547437822E-4	0.03
18	20799228	G	A	18	23219264	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.70500398014425E-4	0.08
18	20799228	G	C	18	23219264	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.70500398014425E-4	0.032
18	20799228	G	T	18	23219264	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.70500398014425E-4	0.05
18	20799229	A	C	18	23219265	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	9.59360374706247E-5	0.008
18	20799229	A	G	18	23219265	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	9.59360374706247E-5	0.008
18	20799229	A	T	18	23219265	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	9.59360374706247E-5	0.014
18	20799230	G	A	18	23219266	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.07620641825897E-5	0.0
18	20799230	G	C	18	23219266	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.07620641825897E-5	0.0
18	20799230	G	T	18	23219266	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.07620641825897E-5	0.0
18	20799231	A	C	18	23219267	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.96404089075045E-5	0.006
18	20799231	A	G	18	23219267	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.96404089075045E-5	0.006
18	20799231	A	T	18	23219267	n	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.38731564659595E-5	0.002
18	20814560	T	A	18	23234596	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.46762314136556	0.524
18	20814560	T	C	18	23234596	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.56911650808744E-5	0.044
18	20814560	T	G	18	23234596	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.558669662751887	0.506
18	20814561	T	A	18	23234597	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999976869015554	0.968
18	20814561	T	C	18	23234597	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.121349114577188	0.236
18	20814561	T	G	18	23234597	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.997149052152739	0.816
18	20814562	G	A	18	23234598	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.97279261972098E-4	0.158
18	20814562	G	C	18	23234598	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.36939463752461E-4	0.214
18	20814562	G	T	18	23234598	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.73692940149951E-4	0.24
18	20814563	T	A	18	23234599	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.977460260913635	0.772
18	20814563	T	C	18	23234599	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00537293720457064	0.104
18	20814563	T	G	18	23234599	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.983990026607585	0.832
18	20814564	C	A	18	23234600	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0111038726979841	0.12
18	20814564	C	G	18	23234600	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0112660666704574	0.082
18	20814564	C	T	18	23234600	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	8.23016960861565E-5	0.004
18	20814565	C	A	18	23234601	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.938540570043076	0.528
18	20814565	C	G	18	23234601	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.860873692211823	0.474
18	20814565	C	T	18	23234601	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0174475817158045	0.162
18	20814566	T	A	18	23234602	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0856894696096078	0.478
18	20814566	T	C	18	23234602	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.47247716598804E-5	0.082
18	20814566	T	G	18	23234602	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.331944893016383	0.632
18	20814567	C	A	18	23234603	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00714768774195385	0.098
18	20814567	C	G	18	23234603	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00222312168260672	0.084
18	20814567	C	T	18	23234603	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	8.02493924206076E-5	0.002
18	20814568	C	A	18	23234604	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.01007593003273E-5	0.014
18	20814568	C	G	18	23234604	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.78264733756242E-4	0.028
18	20814568	C	T	18	23234604	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.01007593003273E-5	0.016
18	20814569	C	A	18	23234605	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.964538589063024	0.788
18	20814569	C	G	18	23234605	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999797212108245	0.936
18	20814569	C	T	18	23234605	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00604520619077862	0.08
18	20814570	A	C	18	23234606	y	y	splicing	CABLES1(NM_001256438:exon5:c.108-2A>C;NM_001100619:exon5:c.1089-2A>C;NM_138375:exon5:c.294-2A>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.108-2A>C;ENST00000256925:exon5:c.1089-2A>C;ENST00000420687:exon5:c.294-2A>C)	.	.	0.999988247793601	0.928
18	20814570	A	G	18	23234606	y	y	splicing	CABLES1(NM_001256438:exon5:c.108-2A>G;NM_001100619:exon5:c.1089-2A>G;NM_138375:exon5:c.294-2A>G)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.108-2A>G;ENST00000256925:exon5:c.1089-2A>G;ENST00000420687:exon5:c.294-2A>G)	.	.	0.999988247793601	0.928
18	20814570	A	T	18	23234606	y	y	splicing	CABLES1(NM_001256438:exon5:c.108-2A>T;NM_001100619:exon5:c.1089-2A>T;NM_138375:exon5:c.294-2A>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.108-2A>T;ENST00000256925:exon5:c.1089-2A>T;ENST00000420687:exon5:c.294-2A>T)	.	.	0.999988247793601	0.928
18	20814571	G	A	18	23234607	y	y	splicing	CABLES1(NM_001256438:exon5:c.108-1G>A;NM_001100619:exon5:c.1089-1G>A;NM_138375:exon5:c.294-1G>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.108-1G>A;ENST00000256925:exon5:c.1089-1G>A;ENST00000420687:exon5:c.294-1G>A)	.	.	0.999985532734767	0.936
18	20814571	G	C	18	23234607	y	y	splicing	CABLES1(NM_001256438:exon5:c.108-1G>C;NM_001100619:exon5:c.1089-1G>C;NM_138375:exon5:c.294-1G>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.108-1G>C;ENST00000256925:exon5:c.1089-1G>C;ENST00000420687:exon5:c.294-1G>C)	.	.	0.999985532734767	0.936
18	20814571	G	T	18	23234607	y	y	splicing	CABLES1(NM_001256438:exon5:c.108-1G>T;NM_001100619:exon5:c.1089-1G>T;NM_138375:exon5:c.294-1G>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.108-1G>T;ENST00000256925:exon5:c.1089-1G>T;ENST00000420687:exon5:c.294-1G>T)	.	.	0.999985532734767	0.936
18	20814572	G	A	18	23234608	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon5:c.G108A:p.G36G;CABLES1:NM_138375:exon5:c.G294A:p.G98G;CABLES1:NM_001100619:exon5:c.G1089A:p.G363G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G294A:p.G98G;ENSG00000134508:ENST00000400473:exon5:c.G108A:p.G36G;ENSG00000134508:ENST00000256925:exon5:c.G1089A:p.G363G;	0.814708980599777	0.412
18	20814572	G	C	18	23234608	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon5:c.G108C:p.G36G;CABLES1:NM_138375:exon5:c.G294C:p.G98G;CABLES1:NM_001100619:exon5:c.G1089C:p.G363G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G294C:p.G98G;ENSG00000134508:ENST00000400473:exon5:c.G108C:p.G36G;ENSG00000134508:ENST00000256925:exon5:c.G1089C:p.G363G;	0.978327748349372	0.786
18	20814572	G	T	18	23234608	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon5:c.G108T:p.G36G;CABLES1:NM_138375:exon5:c.G294T:p.G98G;CABLES1:NM_001100619:exon5:c.G1089T:p.G363G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G294T:p.G98G;ENSG00000134508:ENST00000400473:exon5:c.G108T:p.G36G;ENSG00000134508:ENST00000256925:exon5:c.G1089T:p.G363G;	0.98653365667124	0.858
18	20814573	G	A	18	23234609	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.G109A:p.D37N;CABLES1:NM_138375:exon5:c.G295A:p.D99N;CABLES1:NM_001100619:exon5:c.G1090A:p.D364N;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G295A:p.D99N;ENSG00000134508:ENST00000400473:exon5:c.G109A:p.D37N;ENSG00000134508:ENST00000256925:exon5:c.G1090A:p.D364N;	0.428291524746154	0.63
18	20814573	G	C	18	23234609	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.G109C:p.D37H;CABLES1:NM_138375:exon5:c.G295C:p.D99H;CABLES1:NM_001100619:exon5:c.G1090C:p.D364H;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G295C:p.D99H;ENSG00000134508:ENST00000400473:exon5:c.G109C:p.D37H;ENSG00000134508:ENST00000256925:exon5:c.G1090C:p.D364H;	0.358009095724852	0.59
18	20814573	G	T	18	23234609	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.G109T:p.D37Y;CABLES1:NM_138375:exon5:c.G295T:p.D99Y;CABLES1:NM_001100619:exon5:c.G1090T:p.D364Y;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G295T:p.D99Y;ENSG00000134508:ENST00000400473:exon5:c.G109T:p.D37Y;ENSG00000134508:ENST00000256925:exon5:c.G1090T:p.D364Y;	0.627493060337969	0.56
18	20814666	A	C	18	23234702	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.A202C:p.K68Q;CABLES1:NM_138375:exon5:c.A388C:p.K130Q;CABLES1:NM_001100619:exon5:c.A1183C:p.K395Q;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.A388C:p.K130Q;ENSG00000134508:ENST00000400473:exon5:c.A202C:p.K68Q;ENSG00000134508:ENST00000256925:exon5:c.A1183C:p.K395Q;	0.298127952362829	0.474
18	20814666	A	G	18	23234702	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.A202G:p.K68E;CABLES1:NM_138375:exon5:c.A388G:p.K130E;CABLES1:NM_001100619:exon5:c.A1183G:p.K395E;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.A388G:p.K130E;ENSG00000134508:ENST00000400473:exon5:c.A202G:p.K68E;ENSG00000134508:ENST00000256925:exon5:c.A1183G:p.K395E;	0.350006872918357	0.494
18	20814666	A	T	18	23234702	y	y	exonic	CABLES1	stopgain SNV	CABLES1:NM_001256438:exon5:c.A202T:p.K68X;CABLES1:NM_138375:exon5:c.A388T:p.K130X;CABLES1:NM_001100619:exon5:c.A1183T:p.K395X;	exonic	ENSG00000134508	stopgain SNV	ENSG00000134508:ENST00000420687:exon5:c.A388T:p.K130X;ENSG00000134508:ENST00000400473:exon5:c.A202T:p.K68X;ENSG00000134508:ENST00000256925:exon5:c.A1183T:p.K395X;	0.972990865146883	0.71
18	20814667	A	C	18	23234703	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.A203C:p.K68T;CABLES1:NM_138375:exon5:c.A389C:p.K130T;CABLES1:NM_001100619:exon5:c.A1184C:p.K395T;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.A389C:p.K130T;ENSG00000134508:ENST00000400473:exon5:c.A203C:p.K68T;ENSG00000134508:ENST00000256925:exon5:c.A1184C:p.K395T;	0.991821610941017	0.92
18	20814667	A	G	18	23234703	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.A203G:p.K68R;CABLES1:NM_138375:exon5:c.A389G:p.K130R;CABLES1:NM_001100619:exon5:c.A1184G:p.K395R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.A389G:p.K130R;ENSG00000134508:ENST00000400473:exon5:c.A203G:p.K68R;ENSG00000134508:ENST00000256925:exon5:c.A1184G:p.K395R;	0.99955159157375	0.972
18	20814667	A	T	18	23234703	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.A203T:p.K68M;CABLES1:NM_138375:exon5:c.A389T:p.K130M;CABLES1:NM_001100619:exon5:c.A1184T:p.K395M;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.A389T:p.K130M;ENSG00000134508:ENST00000400473:exon5:c.A203T:p.K68M;ENSG00000134508:ENST00000256925:exon5:c.A1184T:p.K395M;	0.998741221438394	0.876
18	20814668	G	A	18	23234704	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon5:c.G204A:p.K68K;CABLES1:NM_138375:exon5:c.G390A:p.K130K;CABLES1:NM_001100619:exon5:c.G1185A:p.K395K;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G390A:p.K130K;ENSG00000134508:ENST00000400473:exon5:c.G204A:p.K68K;ENSG00000134508:ENST00000256925:exon5:c.G1185A:p.K395K;	0.999978602153723	0.976
18	20814668	G	C	18	23234704	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.G204C:p.K68N;CABLES1:NM_138375:exon5:c.G390C:p.K130N;CABLES1:NM_001100619:exon5:c.G1185C:p.K395N;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G390C:p.K130N;ENSG00000134508:ENST00000400473:exon5:c.G204C:p.K68N;ENSG00000134508:ENST00000256925:exon5:c.G1185C:p.K395N;	0.99995882707639	0.926
18	20814668	G	T	18	23234704	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon5:c.G204T:p.K68N;CABLES1:NM_138375:exon5:c.G390T:p.K130N;CABLES1:NM_001100619:exon5:c.G1185T:p.K395N;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon5:c.G390T:p.K130N;ENSG00000134508:ENST00000400473:exon5:c.G204T:p.K68N;ENSG00000134508:ENST00000256925:exon5:c.G1185T:p.K395N;	0.99997999008025	0.984
18	20814669	G	A	18	23234705	y	y	splicing	CABLES1(NM_001256438:exon5:c.204+1G>A;NM_001100619:exon5:c.1185+1G>A;NM_138375:exon5:c.390+1G>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.204+1G>A;ENST00000256925:exon5:c.1185+1G>A;ENST00000420687:exon5:c.390+1G>A)	.	.	0.999989263107695	0.938
18	20814669	G	C	18	23234705	y	y	splicing	CABLES1(NM_001256438:exon5:c.204+1G>C;NM_001100619:exon5:c.1185+1G>C;NM_138375:exon5:c.390+1G>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.204+1G>C;ENST00000256925:exon5:c.1185+1G>C;ENST00000420687:exon5:c.390+1G>C)	.	.	0.999989263107695	0.938
18	20814669	G	T	18	23234705	y	y	splicing	CABLES1(NM_001256438:exon5:c.204+1G>T;NM_001100619:exon5:c.1185+1G>T;NM_138375:exon5:c.390+1G>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.204+1G>T;ENST00000256925:exon5:c.1185+1G>T;ENST00000420687:exon5:c.390+1G>T)	.	.	0.999989263107695	0.938
18	20814670	T	A	18	23234706	y	y	splicing	CABLES1(NM_001256438:exon5:c.204+2T>A;NM_001100619:exon5:c.1185+2T>A;NM_138375:exon5:c.390+2T>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.204+2T>A;ENST00000256925:exon5:c.1185+2T>A;ENST00000420687:exon5:c.390+2T>A)	.	.	0.999988247793601	0.93
18	20814670	T	C	18	23234706	y	y	splicing	CABLES1(NM_001256438:exon5:c.204+2T>C;NM_001100619:exon5:c.1185+2T>C;NM_138375:exon5:c.390+2T>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.204+2T>C;ENST00000256925:exon5:c.1185+2T>C;ENST00000420687:exon5:c.390+2T>C)	.	.	0.99340600729494	0.698
18	20814670	T	G	18	23234706	y	y	splicing	CABLES1(NM_001256438:exon5:c.204+2T>G;NM_001100619:exon5:c.1185+2T>G;NM_138375:exon5:c.390+2T>G)	.	.	splicing	ENSG00000134508(ENST00000400473:exon5:c.204+2T>G;ENST00000256925:exon5:c.1185+2T>G;ENST00000420687:exon5:c.390+2T>G)	.	.	0.999988247793601	0.93
18	20814671	A	C	18	23234707	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999270100817747	0.948
18	20814671	A	G	18	23234707	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.820847813272308	0.396
18	20814671	A	T	18	23234707	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999206271367629	0.944
18	20814672	A	C	18	23234708	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.996181743803965	0.83
18	20814672	A	G	18	23234708	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.9975776707125	0.854
18	20814672	A	T	18	23234708	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.992548851832576	0.846
18	20814673	G	A	18	23234709	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.991352522923426	0.708
18	20814673	G	C	18	23234709	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.787677268640971	0.592
18	20814673	G	T	18	23234709	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.896156280858319	0.572
18	20814674	G	A	18	23234710	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.61432691211135E-4	0.014
18	20814674	G	C	18	23234710	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.37917744358071E-4	0.016
18	20814674	G	T	18	23234710	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.35546107774969E-5	0.012
18	20814675	C	A	18	23234711	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.1011603121178E-5	0.0
18	20814675	C	G	18	23234711	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.20710012090933E-5	0.0
18	20814675	C	T	18	23234711	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.44447590467338E-4	0.0
18	20814676	T	A	18	23234712	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.35638901542545E-5	0.0
18	20814676	T	C	18	23234712	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.42256383822114E-5	0.0
18	20814676	T	G	18	23234712	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.05277977489294E-5	0.004
18	20815847	T	A	18	23235883	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.293431363474052	0.368
18	20815847	T	C	18	23235883	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00242510607373207	0.11
18	20815847	T	G	18	23235883	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0927285031768231	0.276
18	20815848	T	A	18	23235884	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00872687704765123	0.358
18	20815848	T	C	18	23235884	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.24311702688146E-4	0.124
18	20815848	T	G	18	23235884	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0103233368541713	0.318
18	20815849	C	A	18	23235885	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.66609555766932E-5	0.102
18	20815849	C	G	18	23235885	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.35461752515678E-5	0.062
18	20815849	C	T	18	23235885	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.02781999252781E-5	0.202
18	20815850	A	C	18	23235886	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.32141980613395E-5	0.218
18	20815850	A	G	18	23235886	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.34770070861593E-4	0.146
18	20815850	A	T	18	23235886	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.96973033119094E-5	0.224
18	20815851	C	A	18	23235887	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0315452911034739	0.154
18	20815851	C	G	18	23235887	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999947660073767	0.97
18	20815851	C	T	18	23235887	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00318553571159374	0.122
18	20815852	C	A	18	23235888	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	9.6619258631884E-4	0.088
18	20815852	C	G	18	23235888	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	8.4649461101072E-4	0.104
18	20815852	C	T	18	23235888	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.4954840585779E-5	0.01
18	20815853	T	A	18	23235889	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.159711140320148	0.232
18	20815853	T	C	18	23235889	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00376446576109242	0.044
18	20815853	T	G	18	23235889	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.179039021885422	0.296
18	20815854	T	A	18	23235890	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.99153894333553	0.79
18	20815854	T	C	18	23235890	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.717092273013876	0.422
18	20815854	T	G	18	23235890	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.972542253419451	0.756
18	20815855	T	A	18	23235891	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.19616098827897E-4	0.064
18	20815855	T	C	18	23235891	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.61876821806353E-5	0.012
18	20815855	T	G	18	23235891	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.0327609884051E-4	0.006
18	20815856	T	A	18	23235892	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00972100930662543	0.282
18	20815856	T	C	18	23235892	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.06173699352614E-5	0.0
18	20815856	T	G	18	23235892	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.76663062653082	0.688
18	20815857	A	C	18	23235893	y	y	splicing	CABLES1(NM_001256438:exon6:c.205-2A>C;NM_001100619:exon6:c.1186-2A>C;NM_138375:exon6:c.391-2A>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.205-2A>C;ENST00000256925:exon6:c.1186-2A>C;ENST00000420687:exon6:c.391-2A>C)	.	.	0.999988247793601	0.928
18	20815857	A	G	18	23235893	y	y	splicing	CABLES1(NM_001256438:exon6:c.205-2A>G;NM_001100619:exon6:c.1186-2A>G;NM_138375:exon6:c.391-2A>G)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.205-2A>G;ENST00000256925:exon6:c.1186-2A>G;ENST00000420687:exon6:c.391-2A>G)	.	.	0.999988247793601	0.928
18	20815857	A	T	18	23235893	y	y	splicing	CABLES1(NM_001256438:exon6:c.205-2A>T;NM_001100619:exon6:c.1186-2A>T;NM_138375:exon6:c.391-2A>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.205-2A>T;ENST00000256925:exon6:c.1186-2A>T;ENST00000420687:exon6:c.391-2A>T)	.	.	0.999988247793601	0.928
18	20815858	G	A	18	23235894	y	y	splicing	CABLES1(NM_001256438:exon6:c.205-1G>A;NM_001100619:exon6:c.1186-1G>A;NM_138375:exon6:c.391-1G>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.205-1G>A;ENST00000256925:exon6:c.1186-1G>A;ENST00000420687:exon6:c.391-1G>A)	.	.	0.999985532734767	0.938
18	20815858	G	C	18	23235894	y	y	splicing	CABLES1(NM_001256438:exon6:c.205-1G>C;NM_001100619:exon6:c.1186-1G>C;NM_138375:exon6:c.391-1G>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.205-1G>C;ENST00000256925:exon6:c.1186-1G>C;ENST00000420687:exon6:c.391-1G>C)	.	.	0.999985532734767	0.938
18	20815858	G	T	18	23235894	y	y	splicing	CABLES1(NM_001256438:exon6:c.205-1G>T;NM_001100619:exon6:c.1186-1G>T;NM_138375:exon6:c.391-1G>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.205-1G>T;ENST00000256925:exon6:c.1186-1G>T;ENST00000420687:exon6:c.391-1G>T)	.	.	0.999985532734767	0.938
18	20815859	A	C	18	23235895	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.A205C:p.T69P;CABLES1:NM_138375:exon6:c.A391C:p.T131P;CABLES1:NM_001100619:exon6:c.A1186C:p.T396P;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.A391C:p.T131P;ENSG00000134508:ENST00000400473:exon6:c.A205C:p.T69P;ENSG00000134508:ENST00000256925:exon6:c.A1186C:p.T396P;	0.372767445095066	0.638
18	20815859	A	G	18	23235895	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.A205G:p.T69A;CABLES1:NM_138375:exon6:c.A391G:p.T131A;CABLES1:NM_001100619:exon6:c.A1186G:p.T396A;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.A391G:p.T131A;ENSG00000134508:ENST00000400473:exon6:c.A205G:p.T69A;ENSG00000134508:ENST00000256925:exon6:c.A1186G:p.T396A;	0.496624205739936	0.588
18	20815859	A	T	18	23235895	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.A205T:p.T69S;CABLES1:NM_138375:exon6:c.A391T:p.T131S;CABLES1:NM_001100619:exon6:c.A1186T:p.T396S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.A391T:p.T131S;ENSG00000134508:ENST00000400473:exon6:c.A205T:p.T69S;ENSG00000134508:ENST00000256925:exon6:c.A1186T:p.T396S;	0.384255642089914	0.51
18	20815860	C	A	18	23235896	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.C206A:p.T69N;CABLES1:NM_138375:exon6:c.C392A:p.T131N;CABLES1:NM_001100619:exon6:c.C1187A:p.T396N;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.C392A:p.T131N;ENSG00000134508:ENST00000400473:exon6:c.C206A:p.T69N;ENSG00000134508:ENST00000256925:exon6:c.C1187A:p.T396N;	0.983109028554636	0.836
18	20815860	C	G	18	23235896	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.C206G:p.T69S;CABLES1:NM_138375:exon6:c.C392G:p.T131S;CABLES1:NM_001100619:exon6:c.C1187G:p.T396S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.C392G:p.T131S;ENSG00000134508:ENST00000400473:exon6:c.C206G:p.T69S;ENSG00000134508:ENST00000256925:exon6:c.C1187G:p.T396S;	0.958604249182539	0.782
18	20815860	C	T	18	23235896	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.C206T:p.T69I;CABLES1:NM_138375:exon6:c.C392T:p.T131I;CABLES1:NM_001100619:exon6:c.C1187T:p.T396I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.C392T:p.T131I;ENSG00000134508:ENST00000400473:exon6:c.C206T:p.T69I;ENSG00000134508:ENST00000256925:exon6:c.C1187T:p.T396I;	0.971892984462801	0.852
18	20816013	C	A	18	23236049	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.C359A:p.T120K;CABLES1:NM_138375:exon6:c.C545A:p.T182K;CABLES1:NM_001100619:exon6:c.C1340A:p.T447K;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.C545A:p.T182K;ENSG00000134508:ENST00000400473:exon6:c.C359A:p.T120K;ENSG00000134508:ENST00000256925:exon6:c.C1340A:p.T447K;	0.0406232242518646	0.154
18	20816013	C	G	18	23236049	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.C359G:p.T120R;CABLES1:NM_138375:exon6:c.C545G:p.T182R;CABLES1:NM_001100619:exon6:c.C1340G:p.T447R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.C545G:p.T182R;ENSG00000134508:ENST00000400473:exon6:c.C359G:p.T120R;ENSG00000134508:ENST00000256925:exon6:c.C1340G:p.T447R;	0.836846704971648	0.61
18	20816013	C	T	18	23236049	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.C359T:p.T120I;CABLES1:NM_138375:exon6:c.C545T:p.T182I;CABLES1:NM_001100619:exon6:c.C1340T:p.T447I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.C545T:p.T182I;ENSG00000134508:ENST00000400473:exon6:c.C359T:p.T120I;ENSG00000134508:ENST00000256925:exon6:c.C1340T:p.T447I;	0.999677341242439	0.96
18	20816014	A	C	18	23236050	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon6:c.A360C:p.T120T;CABLES1:NM_138375:exon6:c.A546C:p.T182T;CABLES1:NM_001100619:exon6:c.A1341C:p.T447T;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.A546C:p.T182T;ENSG00000134508:ENST00000400473:exon6:c.A360C:p.T120T;ENSG00000134508:ENST00000256925:exon6:c.A1341C:p.T447T;	0.994632403062933	0.814
18	20816014	A	G	18	23236050	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon6:c.A360G:p.T120T;CABLES1:NM_138375:exon6:c.A546G:p.T182T;CABLES1:NM_001100619:exon6:c.A1341G:p.T447T;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.A546G:p.T182T;ENSG00000134508:ENST00000400473:exon6:c.A360G:p.T120T;ENSG00000134508:ENST00000256925:exon6:c.A1341G:p.T447T;	0.994559805828682	0.864
18	20816014	A	T	18	23236050	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon6:c.A360T:p.T120T;CABLES1:NM_138375:exon6:c.A546T:p.T182T;CABLES1:NM_001100619:exon6:c.A1341T:p.T447T;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.A546T:p.T182T;ENSG00000134508:ENST00000400473:exon6:c.A360T:p.T120T;ENSG00000134508:ENST00000256925:exon6:c.A1341T:p.T447T;	0.99867743975816	0.876
18	20816015	G	A	18	23236051	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.G361A:p.G121S;CABLES1:NM_138375:exon6:c.G547A:p.G183S;CABLES1:NM_001100619:exon6:c.G1342A:p.G448S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.G547A:p.G183S;ENSG00000134508:ENST00000400473:exon6:c.G361A:p.G121S;ENSG00000134508:ENST00000256925:exon6:c.G1342A:p.G448S;	0.999992014516727	1.0
18	20816015	G	C	18	23236051	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.G361C:p.G121R;CABLES1:NM_138375:exon6:c.G547C:p.G183R;CABLES1:NM_001100619:exon6:c.G1342C:p.G448R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.G547C:p.G183R;ENSG00000134508:ENST00000400473:exon6:c.G361C:p.G121R;ENSG00000134508:ENST00000256925:exon6:c.G1342C:p.G448R;	0.99999745064001	0.992
18	20816015	G	T	18	23236051	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon6:c.G361T:p.G121C;CABLES1:NM_138375:exon6:c.G547T:p.G183C;CABLES1:NM_001100619:exon6:c.G1342T:p.G448C;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon6:c.G547T:p.G183C;ENSG00000134508:ENST00000400473:exon6:c.G361T:p.G121C;ENSG00000134508:ENST00000256925:exon6:c.G1342T:p.G448C;	0.999964104041661	0.994
18	20816016	G	A	18	23236052	y	y	splicing	CABLES1(NM_001256438:exon6:c.361+1G>A;NM_001100619:exon6:c.1342+1G>A;NM_138375:exon6:c.547+1G>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.361+1G>A;ENST00000256925:exon6:c.1342+1G>A;ENST00000420687:exon6:c.547+1G>A)	.	.	0.999985532734767	0.938
18	20816016	G	C	18	23236052	y	y	splicing	CABLES1(NM_001256438:exon6:c.361+1G>C;NM_001100619:exon6:c.1342+1G>C;NM_138375:exon6:c.547+1G>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.361+1G>C;ENST00000256925:exon6:c.1342+1G>C;ENST00000420687:exon6:c.547+1G>C)	.	.	0.999985532734767	0.938
18	20816016	G	T	18	23236052	y	y	splicing	CABLES1(NM_001256438:exon6:c.361+1G>T;NM_001100619:exon6:c.1342+1G>T;NM_138375:exon6:c.547+1G>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.361+1G>T;ENST00000256925:exon6:c.1342+1G>T;ENST00000420687:exon6:c.547+1G>T)	.	.	0.999985532734767	0.938
18	20816017	T	A	18	23236053	y	y	splicing	CABLES1(NM_001256438:exon6:c.361+2T>A;NM_001100619:exon6:c.1342+2T>A;NM_138375:exon6:c.547+2T>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.361+2T>A;ENST00000256925:exon6:c.1342+2T>A;ENST00000420687:exon6:c.547+2T>A)	.	.	0.999988247793601	0.93
18	20816017	T	C	18	23236053	y	y	splicing	CABLES1(NM_001256438:exon6:c.361+2T>C;NM_001100619:exon6:c.1342+2T>C;NM_138375:exon6:c.547+2T>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.361+2T>C;ENST00000256925:exon6:c.1342+2T>C;ENST00000420687:exon6:c.547+2T>C)	.	.	0.99340600729494	0.676
18	20816017	T	G	18	23236053	y	y	splicing	CABLES1(NM_001256438:exon6:c.361+2T>G;NM_001100619:exon6:c.1342+2T>G;NM_138375:exon6:c.547+2T>G)	.	.	splicing	ENSG00000134508(ENST00000400473:exon6:c.361+2T>G;ENST00000256925:exon6:c.1342+2T>G;ENST00000420687:exon6:c.547+2T>G)	.	.	0.999988247793601	0.93
18	20816018	A	C	18	23236054	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999879233681898	0.95
18	20816018	A	G	18	23236054	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.621159066507516	0.772
18	20816018	A	T	18	23236054	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999945519807976	0.926
18	20816019	A	C	18	23236055	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.516486784968562	0.446
18	20816019	A	G	18	23236055	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.503229777718167	0.364
18	20816019	A	T	18	23236055	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.865890432291333	0.47
18	20816020	C	A	18	23236056	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.85349066038608E-5	0.02
18	20816020	C	G	18	23236056	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.95651106779735E-4	0.082
18	20816020	C	T	18	23236056	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00570003598494741	0.068
18	20816021	C	A	18	23236057	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	9.76389537419188E-5	0.012
18	20816021	C	G	18	23236057	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.13645743613931E-4	0.014
18	20816021	C	T	18	23236057	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.74193139957505E-5	0.0
18	20816022	T	A	18	23236058	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.97978205410496E-4	0.0
18	20816022	T	C	18	23236058	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.02577115680485E-4	0.0
18	20816022	T	G	18	23236058	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	8.33043260327965E-5	0.0
18	20816023	T	A	18	23236059	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.78958691012223E-5	0.002
18	20816023	T	C	18	23236059	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.13218711440179E-4	0.002
18	20816023	T	G	18	23236059	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.78958691012223E-5	0.0
18	20817094	T	A	18	23237130	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999951865610528	0.986
18	20817094	T	C	18	23237130	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0136423225487328	0.17
18	20817094	T	G	18	23237130	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999945282136944	0.97
18	20817095	G	A	18	23237131	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.15366408642511E-4	0.074
18	20817095	G	C	18	23237131	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	8.83453840317566E-5	0.002
18	20817095	G	T	18	23237131	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.83254109401007E-4	0.01
18	20817096	T	A	18	23237132	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999958238843648	0.982
18	20817096	T	C	18	23237132	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0016672812253511	0.034
18	20817096	T	G	18	23237132	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.922110348782276	0.668
18	20817097	G	A	18	23237133	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.729267552966923	0.534
18	20817097	G	C	18	23237133	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.242288807618086	0.408
18	20817097	G	T	18	23237133	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.277474312523412	0.316
18	20817098	A	C	18	23237134	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.07269276461887E-5	0.0
18	20817098	A	G	18	23237134	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.658318015934E-5	0.0
18	20817098	A	T	18	23237134	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.59099809633846E-5	0.0
18	20817099	T	A	18	23237135	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00731933350876372	0.032
18	20817099	T	C	18	23237135	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.35788806375523E-5	0.0
18	20817099	T	G	18	23237135	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999045476862535	0.93
18	20817100	C	A	18	23237136	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00801506859498561	0.226
18	20817100	C	G	18	23237136	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0223035528415471	0.284
18	20817100	C	T	18	23237136	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.79696059155004E-5	0.008
18	20817101	T	A	18	23237137	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.777911855902432	0.476
18	20817101	T	C	18	23237137	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00214689218009244	0.15
18	20817101	T	G	18	23237137	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.938492286804393	0.524
18	20817102	T	A	18	23237138	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00603692215396914	0.018
18	20817102	T	C	18	23237138	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00137611554465872	0.002
18	20817102	T	G	18	23237138	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00245359813169785	0.012
18	20817103	C	A	18	23237139	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.890135325503094	0.622
18	20817103	C	G	18	23237139	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999935448757647	0.948
18	20817103	C	T	18	23237139	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00141795056383647	0.044
18	20817104	A	C	18	23237140	y	y	splicing	CABLES1(NM_001256438:exon7:c.362-2A>C;NM_001100619:exon7:c.1343-2A>C;NM_138375:exon7:c.548-2A>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.362-2A>C;ENST00000256925:exon7:c.1343-2A>C;ENST00000420687:exon7:c.548-2A>C)	.	.	0.999988247793601	0.93
18	20817104	A	G	18	23237140	y	y	splicing	CABLES1(NM_001256438:exon7:c.362-2A>G;NM_001100619:exon7:c.1343-2A>G;NM_138375:exon7:c.548-2A>G)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.362-2A>G;ENST00000256925:exon7:c.1343-2A>G;ENST00000420687:exon7:c.548-2A>G)	.	.	0.999988247793601	0.93
18	20817104	A	T	18	23237140	y	y	splicing	CABLES1(NM_001256438:exon7:c.362-2A>T;NM_001100619:exon7:c.1343-2A>T;NM_138375:exon7:c.548-2A>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.362-2A>T;ENST00000256925:exon7:c.1343-2A>T;ENST00000420687:exon7:c.548-2A>T)	.	.	0.999988247793601	0.93
18	20817105	G	A	18	23237141	y	y	splicing	CABLES1(NM_001256438:exon7:c.362-1G>A;NM_001100619:exon7:c.1343-1G>A;NM_138375:exon7:c.548-1G>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.362-1G>A;ENST00000256925:exon7:c.1343-1G>A;ENST00000420687:exon7:c.548-1G>A)	.	.	0.999990361384395	0.938
18	20817105	G	C	18	23237141	y	y	splicing	CABLES1(NM_001256438:exon7:c.362-1G>C;NM_001100619:exon7:c.1343-1G>C;NM_138375:exon7:c.548-1G>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.362-1G>C;ENST00000256925:exon7:c.1343-1G>C;ENST00000420687:exon7:c.548-1G>C)	.	.	0.999990361384395	0.938
18	20817105	G	T	18	23237141	y	y	splicing	CABLES1(NM_001256438:exon7:c.362-1G>T;NM_001100619:exon7:c.1343-1G>T;NM_138375:exon7:c.548-1G>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.362-1G>T;ENST00000256925:exon7:c.1343-1G>T;ENST00000420687:exon7:c.548-1G>T)	.	.	0.999990361384395	0.938
18	20817106	G	A	18	23237142	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.G362A:p.G121D;CABLES1:NM_138375:exon7:c.G548A:p.G183D;CABLES1:NM_001100619:exon7:c.G1343A:p.G448D;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.G548A:p.G183D;ENSG00000134508:ENST00000400473:exon7:c.G362A:p.G121D;ENSG00000134508:ENST00000256925:exon7:c.G1343A:p.G448D;	0.899019630805574	0.624
18	20817106	G	C	18	23237142	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.G362C:p.G121A;CABLES1:NM_138375:exon7:c.G548C:p.G183A;CABLES1:NM_001100619:exon7:c.G1343C:p.G448A;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.G548C:p.G183A;ENSG00000134508:ENST00000400473:exon7:c.G362C:p.G121A;ENSG00000134508:ENST00000256925:exon7:c.G1343C:p.G448A;	0.998740630429046	0.948
18	20817106	G	T	18	23237142	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.G362T:p.G121V;CABLES1:NM_138375:exon7:c.G548T:p.G183V;CABLES1:NM_001100619:exon7:c.G1343T:p.G448V;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.G548T:p.G183V;ENSG00000134508:ENST00000400473:exon7:c.G362T:p.G121V;ENSG00000134508:ENST00000256925:exon7:c.G1343T:p.G448V;	0.999338469910499	0.962
18	20817107	T	A	18	23237143	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon7:c.T363A:p.G121G;CABLES1:NM_138375:exon7:c.T549A:p.G183G;CABLES1:NM_001100619:exon7:c.T1344A:p.G448G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.T549A:p.G183G;ENSG00000134508:ENST00000400473:exon7:c.T363A:p.G121G;ENSG00000134508:ENST00000256925:exon7:c.T1344A:p.G448G;	9.277663803739E-4	0.322
18	20817107	T	C	18	23237143	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon7:c.T363C:p.G121G;CABLES1:NM_138375:exon7:c.T549C:p.G183G;CABLES1:NM_001100619:exon7:c.T1344C:p.G448G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.T549C:p.G183G;ENSG00000134508:ENST00000400473:exon7:c.T363C:p.G121G;ENSG00000134508:ENST00000256925:exon7:c.T1344C:p.G448G;	0.00190252006453156	0.174
18	20817107	T	G	18	23237143	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon7:c.T363G:p.G121G;CABLES1:NM_138375:exon7:c.T549G:p.G183G;CABLES1:NM_001100619:exon7:c.T1344G:p.G448G;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.T549G:p.G183G;ENSG00000134508:ENST00000400473:exon7:c.T363G:p.G121G;ENSG00000134508:ENST00000256925:exon7:c.T1344G:p.G448G;	0.00101496504958083	0.286
18	20817207	A	C	18	23237243	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.A463C:p.M155L;CABLES1:NM_138375:exon7:c.A649C:p.M217L;CABLES1:NM_001100619:exon7:c.A1444C:p.M482L;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.A649C:p.M217L;ENSG00000134508:ENST00000400473:exon7:c.A463C:p.M155L;ENSG00000134508:ENST00000256925:exon7:c.A1444C:p.M482L;	0.824458488067886	0.728
18	20817207	A	G	18	23237243	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.A463G:p.M155V;CABLES1:NM_138375:exon7:c.A649G:p.M217V;CABLES1:NM_001100619:exon7:c.A1444G:p.M482V;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.A649G:p.M217V;ENSG00000134508:ENST00000400473:exon7:c.A463G:p.M155V;ENSG00000134508:ENST00000256925:exon7:c.A1444G:p.M482V;	0.397419888149281	0.494
18	20817207	A	T	18	23237243	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.A463T:p.M155L;CABLES1:NM_138375:exon7:c.A649T:p.M217L;CABLES1:NM_001100619:exon7:c.A1444T:p.M482L;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.A649T:p.M217L;ENSG00000134508:ENST00000400473:exon7:c.A463T:p.M155L;ENSG00000134508:ENST00000256925:exon7:c.A1444T:p.M482L;	0.972042021000726	0.708
18	20817208	T	A	18	23237244	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.T464A:p.M155K;CABLES1:NM_138375:exon7:c.T650A:p.M217K;CABLES1:NM_001100619:exon7:c.T1445A:p.M482K;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.T650A:p.M217K;ENSG00000134508:ENST00000400473:exon7:c.T464A:p.M155K;ENSG00000134508:ENST00000256925:exon7:c.T1445A:p.M482K;	0.859981197338187	0.7
18	20817208	T	C	18	23237244	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.T464C:p.M155T;CABLES1:NM_138375:exon7:c.T650C:p.M217T;CABLES1:NM_001100619:exon7:c.T1445C:p.M482T;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.T650C:p.M217T;ENSG00000134508:ENST00000400473:exon7:c.T464C:p.M155T;ENSG00000134508:ENST00000256925:exon7:c.T1445C:p.M482T;	0.968425570863987	0.914
18	20817208	T	G	18	23237244	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.T464G:p.M155R;CABLES1:NM_138375:exon7:c.T650G:p.M217R;CABLES1:NM_001100619:exon7:c.T1445G:p.M482R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.T650G:p.M217R;ENSG00000134508:ENST00000400473:exon7:c.T464G:p.M155R;ENSG00000134508:ENST00000256925:exon7:c.T1445G:p.M482R;	0.976176116379517	0.902
18	20817209	G	A	18	23237245	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.G465A:p.M155I;CABLES1:NM_138375:exon7:c.G651A:p.M217I;CABLES1:NM_001100619:exon7:c.G1446A:p.M482I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.G651A:p.M217I;ENSG00000134508:ENST00000400473:exon7:c.G465A:p.M155I;ENSG00000134508:ENST00000256925:exon7:c.G1446A:p.M482I;	0.999987207565564	0.992
18	20817209	G	C	18	23237245	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.G465C:p.M155I;CABLES1:NM_138375:exon7:c.G651C:p.M217I;CABLES1:NM_001100619:exon7:c.G1446C:p.M482I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.G651C:p.M217I;ENSG00000134508:ENST00000400473:exon7:c.G465C:p.M155I;ENSG00000134508:ENST00000256925:exon7:c.G1446C:p.M482I;	0.999990089175092	0.962
18	20817209	G	T	18	23237245	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon7:c.G465T:p.M155I;CABLES1:NM_138375:exon7:c.G651T:p.M217I;CABLES1:NM_001100619:exon7:c.G1446T:p.M482I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon7:c.G651T:p.M217I;ENSG00000134508:ENST00000400473:exon7:c.G465T:p.M155I;ENSG00000134508:ENST00000256925:exon7:c.G1446T:p.M482I;	0.999969466574146	0.938
18	20817210	G	A	18	23237246	y	y	splicing	CABLES1(NM_001256438:exon7:c.465+1G>A;NM_001100619:exon7:c.1446+1G>A;NM_138375:exon7:c.651+1G>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.465+1G>A;ENST00000256925:exon7:c.1446+1G>A;ENST00000420687:exon7:c.651+1G>A)	.	.	0.999990361384395	0.938
18	20817210	G	C	18	23237246	y	y	splicing	CABLES1(NM_001256438:exon7:c.465+1G>C;NM_001100619:exon7:c.1446+1G>C;NM_138375:exon7:c.651+1G>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.465+1G>C;ENST00000256925:exon7:c.1446+1G>C;ENST00000420687:exon7:c.651+1G>C)	.	.	0.999990361384395	0.938
18	20817210	G	T	18	23237246	y	y	splicing	CABLES1(NM_001256438:exon7:c.465+1G>T;NM_001100619:exon7:c.1446+1G>T;NM_138375:exon7:c.651+1G>T)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.465+1G>T;ENST00000256925:exon7:c.1446+1G>T;ENST00000420687:exon7:c.651+1G>T)	.	.	0.999990361384395	0.938
18	20817211	T	A	18	23237247	y	y	splicing	CABLES1(NM_001256438:exon7:c.465+2T>A;NM_001100619:exon7:c.1446+2T>A;NM_138375:exon7:c.651+2T>A)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.465+2T>A;ENST00000256925:exon7:c.1446+2T>A;ENST00000420687:exon7:c.651+2T>A)	.	.	0.999988247793601	0.928
18	20817211	T	C	18	23237247	y	y	splicing	CABLES1(NM_001256438:exon7:c.465+2T>C;NM_001100619:exon7:c.1446+2T>C;NM_138375:exon7:c.651+2T>C)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.465+2T>C;ENST00000256925:exon7:c.1446+2T>C;ENST00000420687:exon7:c.651+2T>C)	.	.	0.99991520749976	0.866
18	20817211	T	G	18	23237247	y	y	splicing	CABLES1(NM_001256438:exon7:c.465+2T>G;NM_001100619:exon7:c.1446+2T>G;NM_138375:exon7:c.651+2T>G)	.	.	splicing	ENSG00000134508(ENST00000400473:exon7:c.465+2T>G;ENST00000256925:exon7:c.1446+2T>G;ENST00000420687:exon7:c.651+2T>G)	.	.	0.999988247793601	0.928
18	20817212	G	A	18	23237248	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.10858825119625E-4	0.002
18	20817212	G	C	18	23237248	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.950699213430482	0.77
18	20817212	G	T	18	23237248	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.409355273608839	0.656
18	20817213	A	C	18	23237249	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.998051950616212	0.884
18	20817213	A	G	18	23237249	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.99903929969857	0.944
18	20817213	A	T	18	23237249	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999642717909963	0.906
18	20817214	G	A	18	23237250	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999901710361139	0.868
18	20817214	G	C	18	23237250	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999822833248068	0.962
18	20817214	G	T	18	23237250	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999734785573383	0.732
18	20817215	T	A	18	23237251	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.981902604719088	0.742
18	20817215	T	C	18	23237251	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.750589801411666	0.554
18	20817215	T	G	18	23237251	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.834188298504294	0.628
18	20817216	A	C	18	23237252	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.58058076987846E-4	0.016
18	20817216	A	G	18	23237252	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.05715410220866E-4	0.002
18	20817216	A	T	18	23237252	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.76278679645161E-5	0.0
18	20817217	G	A	18	23237253	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.69421287505831E-4	0.0
18	20817217	G	C	18	23237253	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.57491947284966E-4	0.0
18	20817217	G	T	18	23237253	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.57491947284966E-4	0.0
18	20832912	T	A	18	23252948	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.947762447183917	0.774
18	20832912	T	C	18	23252948	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.7194798898983E-5	0.004
18	20832912	T	G	18	23252948	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	9.9599138948567E-4	0.072
18	20832913	G	A	18	23252949	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.30696344402455E-4	0.002
18	20832913	G	C	18	23252949	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.3686880871202E-6	0.004
18	20832913	G	T	18	23252949	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.26282657477284E-5	0.0
18	20832914	T	A	18	23252950	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.777361860303209	0.498
18	20832914	T	C	18	23252950	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0114733925977236	0.154
18	20832914	T	G	18	23252950	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.420951191651743	0.466
18	20832915	C	A	18	23252951	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00147811341375952	0.082
18	20832915	C	G	18	23252951	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00106355471309825	0.054
18	20832915	C	T	18	23252951	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	8.30207366324381E-5	0.03
18	20832916	T	A	18	23252952	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.99986514002006	0.988
18	20832916	T	C	18	23252952	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.52686090903967E-4	0.004
18	20832916	T	G	18	23252952	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0258018425858789	0.296
18	20832917	G	A	18	23252953	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00192360948117753	0.022
18	20832917	G	C	18	23252953	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.36702558090228E-4	0.01
18	20832917	G	T	18	23252953	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.24204435663174E-4	0.004
18	20832918	T	A	18	23252954	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.636435564237572	0.498
18	20832918	T	C	18	23252954	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00155240499058135	0.088
18	20832918	T	G	18	23252954	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.517977530066277	0.474
18	20832919	T	A	18	23252955	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.508080866877872	0.464
18	20832919	T	C	18	23252955	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0741320980302342	0.224
18	20832919	T	G	18	23252955	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.63439213198055	0.438
18	20832920	A	C	18	23252956	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.09710589481757E-5	0.17
18	20832920	A	G	18	23252956	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.33525911546127E-4	0.084
18	20832920	A	T	18	23252956	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	8.22040588944098E-5	0.016
18	20832921	C	A	18	23252957	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.988818375829327	0.726
18	20832921	C	G	18	23252957	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999931620829263	0.942
18	20832921	C	T	18	23252957	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.6897412450766E-4	0.016
18	20832922	A	C	18	23252958	y	y	splicing	CABLES1(NM_001256438:exon8:c.466-2A>C;NM_001100619:exon8:c.1447-2A>C;NM_138375:exon8:c.652-2A>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.108-2A>C;ENST00000400473:exon8:c.466-2A>C;ENST00000256925:exon8:c.1447-2A>C;ENST00000420687:exon8:c.652-2A>C)	.	.	0.99994568797423	0.926
18	20832922	A	G	18	23252958	y	y	splicing	CABLES1(NM_001256438:exon8:c.466-2A>G;NM_001100619:exon8:c.1447-2A>G;NM_138375:exon8:c.652-2A>G)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.108-2A>G;ENST00000400473:exon8:c.466-2A>G;ENST00000256925:exon8:c.1447-2A>G;ENST00000420687:exon8:c.652-2A>G)	.	.	0.99994568797423	0.926
18	20832922	A	T	18	23252958	y	y	splicing	CABLES1(NM_001256438:exon8:c.466-2A>T;NM_001100619:exon8:c.1447-2A>T;NM_138375:exon8:c.652-2A>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.108-2A>T;ENST00000400473:exon8:c.466-2A>T;ENST00000256925:exon8:c.1447-2A>T;ENST00000420687:exon8:c.652-2A>T)	.	.	0.99994568797423	0.922
18	20832923	G	A	18	23252959	y	y	splicing	CABLES1(NM_001256438:exon8:c.466-1G>A;NM_001100619:exon8:c.1447-1G>A;NM_138375:exon8:c.652-1G>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.108-1G>A;ENST00000400473:exon8:c.466-1G>A;ENST00000256925:exon8:c.1447-1G>A;ENST00000420687:exon8:c.652-1G>A)	.	.	0.999990361384395	0.934
18	20832923	G	C	18	23252959	y	y	splicing	CABLES1(NM_001256438:exon8:c.466-1G>C;NM_001100619:exon8:c.1447-1G>C;NM_138375:exon8:c.652-1G>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.108-1G>C;ENST00000400473:exon8:c.466-1G>C;ENST00000256925:exon8:c.1447-1G>C;ENST00000420687:exon8:c.652-1G>C)	.	.	0.999990361384395	0.934
18	20832923	G	T	18	23252959	y	y	splicing	CABLES1(NM_001256438:exon8:c.466-1G>T;NM_001100619:exon8:c.1447-1G>T;NM_138375:exon8:c.652-1G>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.108-1G>T;ENST00000400473:exon8:c.466-1G>T;ENST00000256925:exon8:c.1447-1G>T;ENST00000420687:exon8:c.652-1G>T)	.	.	0.999990361384395	0.934
18	20832924	A	C	18	23252960	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.A466C:p.T156P;CABLES1:NM_138375:exon8:c.A652C:p.T218P;CABLES1:NM_001100619:exon8:c.A1447C:p.T483P;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.A652C:p.T218P;ENSG00000134508:ENST00000400473:exon8:c.A466C:p.T156P;ENSG00000134508:ENST00000256925:exon8:c.A1447C:p.T483P;	0.95230357030699	0.61
18	20832924	A	G	18	23252960	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.A466G:p.T156A;CABLES1:NM_138375:exon8:c.A652G:p.T218A;CABLES1:NM_001100619:exon8:c.A1447G:p.T483A;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.A652G:p.T218A;ENSG00000134508:ENST00000400473:exon8:c.A466G:p.T156A;ENSG00000134508:ENST00000256925:exon8:c.A1447G:p.T483A;	0.798508141192404	0.606
18	20832924	A	T	18	23252960	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.A466T:p.T156S;CABLES1:NM_138375:exon8:c.A652T:p.T218S;CABLES1:NM_001100619:exon8:c.A1447T:p.T483S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.A652T:p.T218S;ENSG00000134508:ENST00000400473:exon8:c.A466T:p.T156S;ENSG00000134508:ENST00000256925:exon8:c.A1447T:p.T483S;	0.935082799045581	0.576
18	20832925	C	A	18	23252961	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.C467A:p.T156K;CABLES1:NM_138375:exon8:c.C653A:p.T218K;CABLES1:NM_001100619:exon8:c.C1448A:p.T483K;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.C653A:p.T218K;ENSG00000134508:ENST00000400473:exon8:c.C467A:p.T156K;ENSG00000134508:ENST00000256925:exon8:c.C1448A:p.T483K;ENSG00000134508:ENST00000579963:exon5:c.C109A:p.Q37K;	0.993699987292439	0.896
18	20832925	C	G	18	23252961	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.C467G:p.T156R;CABLES1:NM_138375:exon8:c.C653G:p.T218R;CABLES1:NM_001100619:exon8:c.C1448G:p.T483R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.C653G:p.T218R;ENSG00000134508:ENST00000400473:exon8:c.C467G:p.T156R;ENSG00000134508:ENST00000256925:exon8:c.C1448G:p.T483R;ENSG00000134508:ENST00000579963:exon5:c.C109G:p.Q37E;	0.985913306885765	0.798
18	20832925	C	T	18	23252961	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.C467T:p.T156I;CABLES1:NM_138375:exon8:c.C653T:p.T218I;CABLES1:NM_001100619:exon8:c.C1448T:p.T483I;	exonic	ENSG00000134508	stopgain SNV	ENSG00000134508:ENST00000579963:exon5:c.C109T:p.Q37X;	0.980738302444458	0.812
18	20833028	G	A	18	23253064	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon8:c.G570A:p.R190R;CABLES1:NM_138375:exon8:c.G756A:p.R252R;CABLES1:NM_001100619:exon8:c.G1551A:p.R517R;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.G756A:p.R252R;ENSG00000134508:ENST00000400473:exon8:c.G570A:p.R190R;ENSG00000134508:ENST00000256925:exon8:c.G1551A:p.R517R;	8.52344509406673E-5	0.0
18	20833028	G	C	18	23253064	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.G570C:p.R190S;CABLES1:NM_138375:exon8:c.G756C:p.R252S;CABLES1:NM_001100619:exon8:c.G1551C:p.R517S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.G756C:p.R252S;ENSG00000134508:ENST00000400473:exon8:c.G570C:p.R190S;ENSG00000134508:ENST00000256925:exon8:c.G1551C:p.R517S;	1.33001094346317E-4	0.3
18	20833028	G	T	18	23253064	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.G570T:p.R190S;CABLES1:NM_138375:exon8:c.G756T:p.R252S;CABLES1:NM_001100619:exon8:c.G1551T:p.R517S;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.G756T:p.R252S;ENSG00000134508:ENST00000400473:exon8:c.G570T:p.R190S;ENSG00000134508:ENST00000256925:exon8:c.G1551T:p.R517S;	0.00246627381749088	0.262
18	20833029	A	C	18	23253065	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.A571C:p.S191R;CABLES1:NM_138375:exon8:c.A757C:p.S253R;CABLES1:NM_001100619:exon8:c.A1552C:p.S518R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.A757C:p.S253R;ENSG00000134508:ENST00000400473:exon8:c.A571C:p.S191R;ENSG00000134508:ENST00000256925:exon8:c.A1552C:p.S518R;	0.99967485012442	0.968
18	20833029	A	G	18	23253065	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.A571G:p.S191G;CABLES1:NM_138375:exon8:c.A757G:p.S253G;CABLES1:NM_001100619:exon8:c.A1552G:p.S518G;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.A757G:p.S253G;ENSG00000134508:ENST00000400473:exon8:c.A571G:p.S191G;ENSG00000134508:ENST00000256925:exon8:c.A1552G:p.S518G;	0.999956916356388	1.0
18	20833029	A	T	18	23253065	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.A571T:p.S191C;CABLES1:NM_138375:exon8:c.A757T:p.S253C;CABLES1:NM_001100619:exon8:c.A1552T:p.S518C;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.A757T:p.S253C;ENSG00000134508:ENST00000400473:exon8:c.A571T:p.S191C;ENSG00000134508:ENST00000256925:exon8:c.A1552T:p.S518C;	0.999898443425547	0.998
18	20833030	G	A	18	23253066	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.G572A:p.S191N;CABLES1:NM_138375:exon8:c.G758A:p.S253N;CABLES1:NM_001100619:exon8:c.G1553A:p.S518N;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.G758A:p.S253N;ENSG00000134508:ENST00000400473:exon8:c.G572A:p.S191N;ENSG00000134508:ENST00000256925:exon8:c.G1553A:p.S518N;	0.999989511978764	1.0
18	20833030	G	C	18	23253066	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.G572C:p.S191T;CABLES1:NM_138375:exon8:c.G758C:p.S253T;CABLES1:NM_001100619:exon8:c.G1553C:p.S518T;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.G758C:p.S253T;ENSG00000134508:ENST00000400473:exon8:c.G572C:p.S191T;ENSG00000134508:ENST00000256925:exon8:c.G1553C:p.S518T;	0.999993141279875	0.996
18	20833030	G	T	18	23253066	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon8:c.G572T:p.S191I;CABLES1:NM_138375:exon8:c.G758T:p.S253I;CABLES1:NM_001100619:exon8:c.G1553T:p.S518I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon8:c.G758T:p.S253I;ENSG00000134508:ENST00000400473:exon8:c.G572T:p.S191I;ENSG00000134508:ENST00000256925:exon8:c.G1553T:p.S518I;	0.999977665283879	0.964
18	20833031	G	A	18	23253067	y	y	splicing	CABLES1(NM_001256438:exon8:c.572+1G>A;NM_001100619:exon8:c.1553+1G>A;NM_138375:exon8:c.758+1G>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.214+1G>A;ENST00000400473:exon8:c.572+1G>A;ENST00000256925:exon8:c.1553+1G>A;ENST00000420687:exon8:c.758+1G>A)	.	.	0.999990361384395	0.938
18	20833031	G	C	18	23253067	y	y	splicing	CABLES1(NM_001256438:exon8:c.572+1G>C;NM_001100619:exon8:c.1553+1G>C;NM_138375:exon8:c.758+1G>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.214+1G>C;ENST00000400473:exon8:c.572+1G>C;ENST00000256925:exon8:c.1553+1G>C;ENST00000420687:exon8:c.758+1G>C)	.	.	0.999990361384395	0.938
18	20833031	G	T	18	23253067	y	y	splicing	CABLES1(NM_001256438:exon8:c.572+1G>T;NM_001100619:exon8:c.1553+1G>T;NM_138375:exon8:c.758+1G>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.214+1G>T;ENST00000400473:exon8:c.572+1G>T;ENST00000256925:exon8:c.1553+1G>T;ENST00000420687:exon8:c.758+1G>T)	.	.	0.999990361384395	0.938
18	20833032	T	A	18	23253068	y	y	splicing	CABLES1(NM_001256438:exon8:c.572+2T>A;NM_001100619:exon8:c.1553+2T>A;NM_138375:exon8:c.758+2T>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.214+2T>A;ENST00000400473:exon8:c.572+2T>A;ENST00000256925:exon8:c.1553+2T>A;ENST00000420687:exon8:c.758+2T>A)	.	.	0.999988247793601	0.93
18	20833032	T	C	18	23253068	y	y	splicing	CABLES1(NM_001256438:exon8:c.572+2T>C;NM_001100619:exon8:c.1553+2T>C;NM_138375:exon8:c.758+2T>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.214+2T>C;ENST00000400473:exon8:c.572+2T>C;ENST00000256925:exon8:c.1553+2T>C;ENST00000420687:exon8:c.758+2T>C)	.	.	0.994669226766359	0.676
18	20833032	T	G	18	23253068	y	y	splicing	CABLES1(NM_001256438:exon8:c.572+2T>G;NM_001100619:exon8:c.1553+2T>G;NM_138375:exon8:c.758+2T>G)	.	.	splicing	ENSG00000134508(ENST00000579963:exon5:c.214+2T>G;ENST00000400473:exon8:c.572+2T>G;ENST00000256925:exon8:c.1553+2T>G;ENST00000420687:exon8:c.758+2T>G)	.	.	0.999988247793601	0.93
18	20833033	A	C	18	23253069	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999662733186027	0.95
18	20833033	A	G	18	23253069	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.995335058864592	0.85
18	20833033	A	T	18	23253069	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999128566753504	0.97
18	20833034	C	A	18	23253070	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.00583480424275E-5	0.004
18	20833034	C	G	18	23253070	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.12317764864334E-4	0.172
18	20833034	C	T	18	23253070	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.41113336973875E-5	0.0
18	20833035	G	A	18	23253071	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.942004452736796	0.624
18	20833035	G	C	18	23253071	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.474945515888158	0.506
18	20833035	G	T	18	23253071	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.325615325074271	0.446
18	20833036	G	A	18	23253072	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	8.75211116944302E-5	0.006
18	20833036	G	C	18	23253072	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.72613593355546E-4	0.018
18	20833036	G	T	18	23253072	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.65353474286248E-4	0.0
18	20833037	G	A	18	23253073	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.36742828518914E-4	0.0
18	20833037	G	C	18	23253073	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.15662759130468E-4	0.008
18	20833037	G	T	18	23253073	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.59094357654955E-5	0.0
18	20833038	A	C	18	23253074	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	9.45119024152005E-5	0.0
18	20833038	A	G	18	23253074	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.85629413592391E-5	0.0
18	20833038	A	T	18	23253074	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.13127316016896E-5	0.0
18	20833681	G	A	18	23253717	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.08891580635934E-5	0.002
18	20833681	G	C	18	23253717	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.14864024997122E-5	0.002
18	20833681	G	T	18	23253717	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.50714567537486E-5	0.002
18	20833682	T	A	18	23253718	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00351730010414199	0.19
18	20833682	T	C	18	23253718	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.33632506971778E-4	0.056
18	20833682	T	G	18	23253718	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00154717694965136	0.182
18	20833683	C	A	18	23253719	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00335519310977511	0.064
18	20833683	C	G	18	23253719	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.457768097451E-4	0.02
18	20833683	C	T	18	23253719	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.54053606381237E-5	0.006
18	20833684	T	A	18	23253720	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00251381803949302	0.256
18	20833684	T	C	18	23253720	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.23423625127323E-4	0.01
18	20833684	T	G	18	23253720	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00121376306990098	0.104
18	20833685	T	A	18	23253721	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.99191130683704E-4	0.048
18	20833685	T	C	18	23253721	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.97946133587806E-5	0.0
18	20833685	T	G	18	23253721	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.35230199870817E-4	0.06
18	20833686	T	A	18	23253722	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	7.64911896207511E-4	0.044
18	20833686	T	C	18	23253722	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.24727521576742E-5	0.0
18	20833686	T	G	18	23253722	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.22802391070972E-4	0.092
18	20833687	C	A	18	23253723	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00286156487288419	0.1
18	20833687	C	G	18	23253723	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.0033924176839632	0.114
18	20833687	C	T	18	23253723	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.62560253736244E-5	0.0
18	20833688	T	A	18	23253724	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.2475316734718E-4	0.084
18	20833688	T	C	18	23253724	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.53728393883054E-5	0.0
18	20833688	T	G	18	23253724	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.94988971807522E-4	0.082
18	20833689	C	A	18	23253725	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.53071363433867E-5	0.0
18	20833689	C	G	18	23253725	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.23434900657109E-5	0.0
18	20833689	C	T	18	23253725	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	3.20345695614173E-5	0.002
18	20833690	C	A	18	23253726	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.926896907420286	0.532
18	20833690	C	G	18	23253726	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999943060817272	0.96
18	20833690	C	T	18	23253726	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.00166853213287656	0.014
18	20833691	A	C	18	23253727	y	y	splicing	CABLES1(NM_001256438:exon9:c.573-2A>C;NM_001100619:exon9:c.1554-2A>C;NM_138375:exon9:c.759-2A>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.215-2A>C;ENST00000400473:exon9:c.573-2A>C;ENST00000256925:exon9:c.1554-2A>C;ENST00000420687:exon9:c.759-2A>C)	.	.	0.99994568797423	0.946
18	20833691	A	G	18	23253727	y	y	splicing	CABLES1(NM_001256438:exon9:c.573-2A>G;NM_001100619:exon9:c.1554-2A>G;NM_138375:exon9:c.759-2A>G)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.215-2A>G;ENST00000400473:exon9:c.573-2A>G;ENST00000256925:exon9:c.1554-2A>G;ENST00000420687:exon9:c.759-2A>G)	.	.	0.99994568797423	0.946
18	20833691	A	T	18	23253727	y	y	splicing	CABLES1(NM_001256438:exon9:c.573-2A>T;NM_001100619:exon9:c.1554-2A>T;NM_138375:exon9:c.759-2A>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.215-2A>T;ENST00000400473:exon9:c.573-2A>T;ENST00000256925:exon9:c.1554-2A>T;ENST00000420687:exon9:c.759-2A>T)	.	.	0.99994568797423	0.942
18	20833692	G	A	18	23253728	y	y	splicing	CABLES1(NM_001256438:exon9:c.573-1G>A;NM_001100619:exon9:c.1554-1G>A;NM_138375:exon9:c.759-1G>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.215-1G>A;ENST00000400473:exon9:c.573-1G>A;ENST00000256925:exon9:c.1554-1G>A;ENST00000420687:exon9:c.759-1G>A)	.	.	0.999982737877662	0.932
18	20833692	G	C	18	23253728	y	y	splicing	CABLES1(NM_001256438:exon9:c.573-1G>C;NM_001100619:exon9:c.1554-1G>C;NM_138375:exon9:c.759-1G>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.215-1G>C;ENST00000400473:exon9:c.573-1G>C;ENST00000256925:exon9:c.1554-1G>C;ENST00000420687:exon9:c.759-1G>C)	.	.	0.99995545544995	0.934
18	20833692	G	T	18	23253728	y	y	splicing	CABLES1(NM_001256438:exon9:c.573-1G>T;NM_001100619:exon9:c.1554-1G>T;NM_138375:exon9:c.759-1G>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.215-1G>T;ENST00000400473:exon9:c.573-1G>T;ENST00000256925:exon9:c.1554-1G>T;ENST00000420687:exon9:c.759-1G>T)	.	.	0.99995545544995	0.93
18	20833693	T	A	18	23253729	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.T573A:p.S191R;CABLES1:NM_138375:exon9:c.T759A:p.S253R;CABLES1:NM_001100619:exon9:c.T1554A:p.S518R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.T759A:p.S253R;ENSG00000134508:ENST00000400473:exon9:c.T573A:p.S191R;ENSG00000134508:ENST00000256925:exon9:c.T1554A:p.S518R;	1.37621520629161E-5	0.01
18	20833693	T	C	18	23253729	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon9:c.T573C:p.S191S;CABLES1:NM_138375:exon9:c.T759C:p.S253S;CABLES1:NM_001100619:exon9:c.T1554C:p.S518S;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.T759C:p.S253S;ENSG00000134508:ENST00000400473:exon9:c.T573C:p.S191S;ENSG00000134508:ENST00000256925:exon9:c.T1554C:p.S518S;	1.39948226817806E-4	0.004
18	20833693	T	G	18	23253729	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.T573G:p.S191R;CABLES1:NM_138375:exon9:c.T759G:p.S253R;CABLES1:NM_001100619:exon9:c.T1554G:p.S518R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.T759G:p.S253R;ENSG00000134508:ENST00000400473:exon9:c.T573G:p.S191R;ENSG00000134508:ENST00000256925:exon9:c.T1554G:p.S518R;	4.92849274651315E-5	0.052
18	20833694	C	A	18	23253730	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.C574A:p.L192M;CABLES1:NM_138375:exon9:c.C760A:p.L254M;CABLES1:NM_001100619:exon9:c.C1555A:p.L519M;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.C760A:p.L254M;ENSG00000134508:ENST00000400473:exon9:c.C574A:p.L192M;ENSG00000134508:ENST00000256925:exon9:c.C1555A:p.L519M;	3.22626368972268E-4	0.008
18	20833694	C	G	18	23253730	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.C574G:p.L192V;CABLES1:NM_138375:exon9:c.C760G:p.L254V;CABLES1:NM_001100619:exon9:c.C1555G:p.L519V;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.C760G:p.L254V;ENSG00000134508:ENST00000400473:exon9:c.C574G:p.L192V;ENSG00000134508:ENST00000256925:exon9:c.C1555G:p.L519V;	1.51557797173993E-4	0.05
18	20833694	C	T	18	23253730	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon9:c.C574T:p.L192L;CABLES1:NM_138375:exon9:c.C760T:p.L254L;CABLES1:NM_001100619:exon9:c.C1555T:p.L519L;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.C760T:p.L254L;ENSG00000134508:ENST00000400473:exon9:c.C574T:p.L192L;ENSG00000134508:ENST00000256925:exon9:c.C1555T:p.L519L;	4.78772927117543E-5	0.002
18	20833898	G	A	18	23253934	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.G778A:p.D260N;CABLES1:NM_138375:exon9:c.G964A:p.D322N;CABLES1:NM_001100619:exon9:c.G1759A:p.D587N;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.G964A:p.D322N;ENSG00000134508:ENST00000400473:exon9:c.G778A:p.D260N;ENSG00000134508:ENST00000256925:exon9:c.G1759A:p.D587N;	0.953253427837054	0.744
18	20833898	G	C	18	23253934	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.G778C:p.D260H;CABLES1:NM_138375:exon9:c.G964C:p.D322H;CABLES1:NM_001100619:exon9:c.G1759C:p.D587H;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.G964C:p.D322H;ENSG00000134508:ENST00000400473:exon9:c.G778C:p.D260H;ENSG00000134508:ENST00000256925:exon9:c.G1759C:p.D587H;	0.959830770152905	0.722
18	20833898	G	T	18	23253934	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.G778T:p.D260Y;CABLES1:NM_138375:exon9:c.G964T:p.D322Y;CABLES1:NM_001100619:exon9:c.G1759T:p.D587Y;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.G964T:p.D322Y;ENSG00000134508:ENST00000400473:exon9:c.G778T:p.D260Y;ENSG00000134508:ENST00000256925:exon9:c.G1759T:p.D587Y;	0.988554308653851	0.808
18	20833899	A	C	18	23253935	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.A779C:p.D260A;CABLES1:NM_138375:exon9:c.A965C:p.D322A;CABLES1:NM_001100619:exon9:c.A1760C:p.D587A;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.A965C:p.D322A;ENSG00000134508:ENST00000400473:exon9:c.A779C:p.D260A;ENSG00000134508:ENST00000256925:exon9:c.A1760C:p.D587A;	0.997515657704235	0.96
18	20833899	A	G	18	23253935	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.A779G:p.D260G;CABLES1:NM_138375:exon9:c.A965G:p.D322G;CABLES1:NM_001100619:exon9:c.A1760G:p.D587G;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.A965G:p.D322G;ENSG00000134508:ENST00000400473:exon9:c.A779G:p.D260G;ENSG00000134508:ENST00000256925:exon9:c.A1760G:p.D587G;	0.995356312637607	0.934
18	20833899	A	T	18	23253935	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.A779T:p.D260V;CABLES1:NM_138375:exon9:c.A965T:p.D322V;CABLES1:NM_001100619:exon9:c.A1760T:p.D587V;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.A965T:p.D322V;ENSG00000134508:ENST00000400473:exon9:c.A779T:p.D260V;ENSG00000134508:ENST00000256925:exon9:c.A1760T:p.D587V;	0.999261719530255	0.942
18	20833900	C	A	18	23253936	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.C780A:p.D260E;CABLES1:NM_138375:exon9:c.C966A:p.D322E;CABLES1:NM_001100619:exon9:c.C1761A:p.D587E;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.C966A:p.D322E;ENSG00000134508:ENST00000400473:exon9:c.C780A:p.D260E;ENSG00000134508:ENST00000256925:exon9:c.C1761A:p.D587E;	3.94267024219387E-5	0.14
18	20833900	C	G	18	23253936	y	y	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon9:c.C780G:p.D260E;CABLES1:NM_138375:exon9:c.C966G:p.D322E;CABLES1:NM_001100619:exon9:c.C1761G:p.D587E;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.C966G:p.D322E;ENSG00000134508:ENST00000400473:exon9:c.C780G:p.D260E;ENSG00000134508:ENST00000256925:exon9:c.C1761G:p.D587E;	1.67154065809096E-5	0.19
18	20833900	C	T	18	23253936	y	y	exonic	CABLES1	synonymous SNV	CABLES1:NM_001256438:exon9:c.C780T:p.D260D;CABLES1:NM_138375:exon9:c.C966T:p.D322D;CABLES1:NM_001100619:exon9:c.C1761T:p.D587D;	exonic	ENSG00000134508	synonymous SNV	ENSG00000134508:ENST00000420687:exon9:c.C966T:p.D322D;ENSG00000134508:ENST00000400473:exon9:c.C780T:p.D260D;ENSG00000134508:ENST00000256925:exon9:c.C1761T:p.D587D;	1.24539552902704E-4	0.226
18	20833901	G	A	18	23253937	y	y	splicing	CABLES1(NM_001256438:exon9:c.780+1G>A;NM_001100619:exon9:c.1761+1G>A;NM_138375:exon9:c.966+1G>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.422+1G>A;ENST00000400473:exon9:c.780+1G>A;ENST00000256925:exon9:c.1761+1G>A;ENST00000420687:exon9:c.966+1G>A)	.	.	0.999990361384395	0.934
18	20833901	G	C	18	23253937	y	y	splicing	CABLES1(NM_001256438:exon9:c.780+1G>C;NM_001100619:exon9:c.1761+1G>C;NM_138375:exon9:c.966+1G>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.422+1G>C;ENST00000400473:exon9:c.780+1G>C;ENST00000256925:exon9:c.1761+1G>C;ENST00000420687:exon9:c.966+1G>C)	.	.	0.999990361384395	0.938
18	20833901	G	T	18	23253937	y	y	splicing	CABLES1(NM_001256438:exon9:c.780+1G>T;NM_001100619:exon9:c.1761+1G>T;NM_138375:exon9:c.966+1G>T)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.422+1G>T;ENST00000400473:exon9:c.780+1G>T;ENST00000256925:exon9:c.1761+1G>T;ENST00000420687:exon9:c.966+1G>T)	.	.	0.999990361384395	0.938
18	20833902	T	A	18	23253938	y	y	splicing	CABLES1(NM_001256438:exon9:c.780+2T>A;NM_001100619:exon9:c.1761+2T>A;NM_138375:exon9:c.966+2T>A)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.422+2T>A;ENST00000400473:exon9:c.780+2T>A;ENST00000256925:exon9:c.1761+2T>A;ENST00000420687:exon9:c.966+2T>A)	.	.	0.999988247793601	0.928
18	20833902	T	C	18	23253938	y	y	splicing	CABLES1(NM_001256438:exon9:c.780+2T>C;NM_001100619:exon9:c.1761+2T>C;NM_138375:exon9:c.966+2T>C)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.422+2T>C;ENST00000400473:exon9:c.780+2T>C;ENST00000256925:exon9:c.1761+2T>C;ENST00000420687:exon9:c.966+2T>C)	.	.	0.988163425542712	0.666
18	20833902	T	G	18	23253938	y	y	splicing	CABLES1(NM_001256438:exon9:c.780+2T>G;NM_001100619:exon9:c.1761+2T>G;NM_138375:exon9:c.966+2T>G)	.	.	splicing	ENSG00000134508(ENST00000579963:exon6:c.422+2T>G;ENST00000400473:exon9:c.780+2T>G;ENST00000256925:exon9:c.1761+2T>G;ENST00000420687:exon9:c.966+2T>G)	.	.	0.999988247793601	0.928
18	20833903	A	C	18	23253939	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.973099958011778	0.744
18	20833903	A	G	18	23253939	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	5.12227205832572E-4	0.114
18	20833903	A	T	18	23253939	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.99152412915899	0.652
18	20833904	A	C	18	23253940	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.387078026326024	0.526
18	20833904	A	G	18	23253940	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.968991811931207	0.756
18	20833904	A	T	18	23253940	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.744389888759666	0.554
18	20833905	G	A	18	23253941	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999920275501024	0.854
18	20833905	G	C	18	23253941	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999952619604727	0.92
18	20833905	G	T	18	23253941	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.999949705870944	0.934
18	20833906	T	A	18	23253942	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.404631267742796	0.54
18	20833906	T	C	18	23253942	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.60614322210212	0.62
18	20833906	T	G	18	23253942	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	0.206910810623621	0.566
18	20833907	A	C	18	23253943	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.35274235975996E-5	0.0
18	20833907	A	G	18	23253943	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	2.35274235975996E-5	0.0
18	20833907	A	T	18	23253943	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	4.27626660442055E-5	0.0
18	20833908	G	A	18	23253944	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	1.09597467780616E-4	0.014
18	20833908	G	C	18	23253944	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.9383400781163E-5	0.01
18	20833908	G	T	18	23253944	y	y	intronic	CABLES1	.	.	intronic	ENSG00000134490;ENSG00000134508	.	.	6.9383400781163E-5	0.008
18	20837179	T	A	18	23257215	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.0127584488019935	0.22
18	20837179	T	C	18	23257215	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	8.34117282961516E-4	0.02
18	20837179	T	G	18	23257215	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.0264883587324251	0.232
18	20837180	T	A	18	23257216	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.00784201610886274	0.232
18	20837180	T	C	18	23257216	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	5.19689219105709E-4	0.072
18	20837180	T	G	18	23257216	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.00183855525188358	0.324
18	20837181	T	A	18	23257217	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.00352486781182401	0.096
18	20837181	T	C	18	23257217	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	7.92053693790247E-4	0.002
18	20837181	T	G	18	23257217	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.00176867195252203	0.11
18	20837182	T	A	18	23257218	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	5.54931538152238E-4	0.17
18	20837182	T	C	18	23257218	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	1.40555339403105E-4	0.006
18	20837182	T	G	18	23257218	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	7.73501140861534E-4	0.156
18	20837183	T	A	18	23257219	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.998808727609696	0.918
18	20837183	T	C	18	23257219	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	3.80505800704533E-5	0.004
18	20837183	T	G	18	23257219	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	8.23565965165504E-4	0.072
18	20837184	G	A	18	23257220	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	6.13446599506762E-5	0.002
18	20837184	G	C	18	23257220	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	5.22421828461277E-5	0.002
18	20837184	G	T	18	23257220	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	1.02673466212563E-4	0.0
18	20837185	T	A	18	23257221	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.0124644593410138	0.108
18	20837185	T	C	18	23257221	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	3.06740509570235E-4	0.004
18	20837185	T	G	18	23257221	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.0194505988202553	0.138
18	20837186	T	A	18	23257222	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.997921751274995	0.928
18	20837186	T	C	18	23257222	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	4.66323172265996E-4	0.01
18	20837186	T	G	18	23257222	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.00870672621284201	0.212
18	20837187	G	A	18	23257223	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	4.7029289666772E-4	0.012
18	20837187	G	C	18	23257223	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	1.9014526066215E-4	0.008
18	20837187	G	T	18	23257223	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	3.51896388108562E-4	0.002
18	20837188	C	A	18	23257224	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.999943176422461	0.92
18	20837188	C	G	18	23257224	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.999963654170169	0.94
18	20837188	C	T	18	23257224	y	n	intronic	CABLES1	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.614948389423925	0.258
18	20837189	A	C	18	23257225	y	n	splicing	CABLES1(NM_001256438:exon10:c.781-2A>C;NM_001100619:exon10:c.1762-2A>C;NM_138375:exon10:c.967-2A>C)	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.999988247793601	0.93
18	20837189	A	G	18	23257225	y	n	splicing	CABLES1(NM_001256438:exon10:c.781-2A>G;NM_001100619:exon10:c.1762-2A>G;NM_138375:exon10:c.967-2A>G)	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.999988247793601	0.93
18	20837189	A	T	18	23257225	y	n	splicing	CABLES1(NM_001256438:exon10:c.781-2A>T;NM_001100619:exon10:c.1762-2A>T;NM_138375:exon10:c.967-2A>T)	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.999988247793601	0.932
18	20837190	G	A	18	23257226	y	n	splicing	CABLES1(NM_001256438:exon10:c.781-1G>A;NM_001100619:exon10:c.1762-1G>A;NM_138375:exon10:c.967-1G>A)	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.999990361384395	0.938
18	20837190	G	C	18	23257226	y	n	splicing	CABLES1(NM_001256438:exon10:c.781-1G>C;NM_001100619:exon10:c.1762-1G>C;NM_138375:exon10:c.967-1G>C)	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.999990361384395	0.938
18	20837190	G	T	18	23257226	y	n	splicing	CABLES1(NM_001256438:exon10:c.781-1G>T;NM_001100619:exon10:c.1762-1G>T;NM_138375:exon10:c.967-1G>T)	.	.	ncRNA_exonic	ENSG00000266495	.	.	0.999990361384395	0.938
18	20837191	A	C	18	23257227	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon10:c.A781C:p.K261Q;CABLES1:NM_138375:exon10:c.A967C:p.K323Q;CABLES1:NM_001100619:exon10:c.A1762C:p.K588Q;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon10:c.A967C:p.K323Q;ENSG00000134508:ENST00000400473:exon10:c.A781C:p.K261Q;ENSG00000134508:ENST00000256925:exon10:c.A1762C:p.K588Q;	0.6269040342888	0.718
18	20837191	A	G	18	23257227	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon10:c.A781G:p.K261E;CABLES1:NM_138375:exon10:c.A967G:p.K323E;CABLES1:NM_001100619:exon10:c.A1762G:p.K588E;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon10:c.A967G:p.K323E;ENSG00000134508:ENST00000400473:exon10:c.A781G:p.K261E;ENSG00000134508:ENST00000256925:exon10:c.A1762G:p.K588E;	0.746024077595885	0.72
18	20837191	A	T	18	23257227	y	n	exonic	CABLES1	stopgain SNV	CABLES1:NM_001256438:exon10:c.A781T:p.K261X;CABLES1:NM_138375:exon10:c.A967T:p.K323X;CABLES1:NM_001100619:exon10:c.A1762T:p.K588X;	exonic	ENSG00000134508	stopgain SNV	ENSG00000134508:ENST00000420687:exon10:c.A967T:p.K323X;ENSG00000134508:ENST00000400473:exon10:c.A781T:p.K261X;ENSG00000134508:ENST00000256925:exon10:c.A1762T:p.K588X;	0.66408578341016	0.7
18	20837192	A	C	18	23257228	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon10:c.A782C:p.K261T;CABLES1:NM_138375:exon10:c.A968C:p.K323T;CABLES1:NM_001100619:exon10:c.A1763C:p.K588T;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon10:c.A968C:p.K323T;ENSG00000134508:ENST00000400473:exon10:c.A782C:p.K261T;ENSG00000134508:ENST00000256925:exon10:c.A1763C:p.K588T;	0.95379465395303	0.884
18	20837192	A	G	18	23257228	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon10:c.A782G:p.K261R;CABLES1:NM_138375:exon10:c.A968G:p.K323R;CABLES1:NM_001100619:exon10:c.A1763G:p.K588R;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon10:c.A968G:p.K323R;ENSG00000134508:ENST00000400473:exon10:c.A782G:p.K261R;ENSG00000134508:ENST00000256925:exon10:c.A1763G:p.K588R;	0.933203692594641	0.632
18	20837192	A	T	18	23257228	y	n	exonic	CABLES1	nonsynonymous SNV	CABLES1:NM_001256438:exon10:c.A782T:p.K261I;CABLES1:NM_138375:exon10:c.A968T:p.K323I;CABLES1:NM_001100619:exon10:c.A1763T:p.K588I;	exonic	ENSG00000134508	nonsynonymous SNV	ENSG00000134508:ENST00000420687:exon10:c.A968T:p.K323I;ENSG00000134508:ENST00000400473:exon10:c.A782T:p.K261I;ENSG00000134508:ENST00000256925:exon10:c.A1763T:p.K588I;	0.912113728420781	0.826
18	20878030	G	A	18	23298066	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon15:c.C832T:p.L278F;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon15:c.C832T:p.L278F;	8.31505571851894E-6	0.0
18	20878030	G	C	18	23298066	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon15:c.C832G:p.L278V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon15:c.C832G:p.L278V;	6.41746725619058E-6	0.0
18	20878030	G	T	18	23298066	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon15:c.C832A:p.L278I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon15:c.C832A:p.L278I;	3.30122865891165E-4	0.006
18	20878031	G	A	18	23298067	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon15:c.C831T:p.C277C;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon15:c.C831T:p.C277C;	0.00797698608536409	0.228
18	20878031	G	C	18	23298067	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon15:c.C831G:p.C277W;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon15:c.C831G:p.C277W;	0.00140842224656373	0.196
18	20878031	G	T	18	23298067	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon15:c.C831A:p.C277X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon15:c.C831A:p.C277X;	0.00107227207663446	0.08
18	20878032	C	A	18	23298068	y	y	splicing	TMEM241(NM_032933:exon16:c.831-1G>T)	.	.	splicing	ENSG00000134490(ENST00000473688:exon15:c.782-1G>T;ENST00000477053:exon12:c.702-1G>T;ENST00000383233:exon16:c.831-1G>T;ENST00000460322:exon13:c.622-1G>T;ENST00000542162:exon15:c.785-1G>T)	.	.	0.999962719125131	0.96
18	20878032	C	G	18	23298068	y	y	splicing	TMEM241(NM_032933:exon16:c.831-1G>C)	.	.	splicing	ENSG00000134490(ENST00000473688:exon15:c.782-1G>C;ENST00000477053:exon12:c.702-1G>C;ENST00000383233:exon16:c.831-1G>C;ENST00000460322:exon13:c.622-1G>C;ENST00000542162:exon15:c.785-1G>C)	.	.	0.999961418715659	0.942
18	20878032	C	T	18	23298068	y	y	splicing	TMEM241(NM_032933:exon16:c.831-1G>A)	.	.	splicing	ENSG00000134490(ENST00000473688:exon15:c.782-1G>A;ENST00000477053:exon12:c.702-1G>A;ENST00000383233:exon16:c.831-1G>A;ENST00000460322:exon13:c.622-1G>A;ENST00000542162:exon15:c.785-1G>A)	.	.	0.999962719125131	0.96
18	20878033	T	A	18	23298069	y	y	splicing	TMEM241(NM_032933:exon16:c.831-2A>T)	.	.	splicing	ENSG00000134490(ENST00000473688:exon15:c.782-2A>T;ENST00000477053:exon12:c.702-2A>T;ENST00000383233:exon16:c.831-2A>T;ENST00000460322:exon13:c.622-2A>T;ENST00000542162:exon15:c.785-2A>T)	.	.	0.999945652454398	0.948
18	20878033	T	C	18	23298069	y	y	splicing	TMEM241(NM_032933:exon16:c.831-2A>G)	.	.	splicing	ENSG00000134490(ENST00000473688:exon15:c.782-2A>G;ENST00000477053:exon12:c.702-2A>G;ENST00000383233:exon16:c.831-2A>G;ENST00000460322:exon13:c.622-2A>G;ENST00000542162:exon15:c.785-2A>G)	.	.	0.999943756768875	0.928
18	20878033	T	G	18	23298069	y	y	splicing	TMEM241(NM_032933:exon16:c.831-2A>C)	.	.	splicing	ENSG00000134490(ENST00000473688:exon15:c.782-2A>C;ENST00000477053:exon12:c.702-2A>C;ENST00000383233:exon16:c.831-2A>C;ENST00000460322:exon13:c.622-2A>C;ENST00000542162:exon15:c.785-2A>C)	.	.	0.999943756768875	0.932
18	20878034	G	A	18	23298070	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00261171870411529	0.06
18	20878034	G	C	18	23298070	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999932436708278	0.936
18	20878034	G	T	18	23298070	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.959219763157749	0.662
18	20878035	C	A	18	23298071	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.8951923666115E-4	0.012
18	20878035	C	G	18	23298071	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.70507039383805E-4	0.014
18	20878035	C	T	18	23298071	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.05997327300692E-4	0.014
18	20878036	A	C	18	23298072	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.470652110805677	0.338
18	20878036	A	G	18	23298072	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.24172559931115E-4	0.106
18	20878036	A	T	18	23298072	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998767621449114	0.822
18	20878037	A	C	18	23298073	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.927178312261136	0.702
18	20878037	A	G	18	23298073	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00201868396202857	0.03
18	20878037	A	T	18	23298073	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.932999849367854	0.714
18	20878038	A	C	18	23298074	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0172939087749869	0.172
18	20878038	A	G	18	23298074	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00127338761580512	0.064
18	20878038	A	T	18	23298074	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.048600364373577	0.212
18	20878039	C	A	18	23298075	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.0488125409034E-5	0.002
18	20878039	C	G	18	23298075	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.0488125409034E-5	0.004
18	20878039	C	T	18	23298075	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.29306443310036E-4	0.09
18	20878040	A	C	18	23298076	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00195998268743728	0.098
18	20878040	A	G	18	23298076	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.13650839897429E-5	0.076
18	20878040	A	T	18	23298076	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999621224373088	0.97
18	20878041	A	C	18	23298077	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00565243126124149	0.172
18	20878041	A	G	18	23298077	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.59506271655581E-4	0.016
18	20878041	A	T	18	23298077	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0172157958940241	0.196
18	20878042	C	A	18	23298078	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.00125137694863E-4	0.038
18	20878042	C	G	18	23298078	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.6729367058015E-5	0.0
18	20878042	C	T	18	23298078	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.82600785589278E-4	0.056
18	20878043	A	C	18	23298079	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00652415924944823	0.25
18	20878043	A	G	18	23298079	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.65953530407292E-4	0.054
18	20878043	A	T	18	23298079	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999948943112715	0.982
18	20889636	A	C	18	23309672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.59797615271383E-5	0.0
18	20889636	A	G	18	23309672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.59797615271383E-5	0.0
18	20889636	A	T	18	23309672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.35697579118787E-5	0.0
18	20889637	G	A	18	23309673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.22751085239585E-5	0.0
18	20889637	G	C	18	23309673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.52932449848953E-5	0.01
18	20889637	G	T	18	23309673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.52932449848953E-5	0.002
18	20889638	A	C	18	23309674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0619343056914483	0.372
18	20889638	A	G	18	23309674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.361442271471133	0.428
18	20889638	A	T	18	23309674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.406497412053767	0.442
18	20889639	C	A	18	23309675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99768702493351	0.89
18	20889639	C	G	18	23309675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998967536240893	0.906
18	20889639	C	T	18	23309675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996149420095919	0.912
18	20889640	T	A	18	23309676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.545236277784741	0.486
18	20889640	T	C	18	23309676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.5779517656593	0.512
18	20889640	T	G	18	23309676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.426142913619489	0.56
18	20889641	T	A	18	23309677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.966099374211827	0.672
18	20889641	T	C	18	23309677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00588071018846315	0.142
18	20889641	T	G	18	23309677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.993970667242879	0.734
18	20889642	A	C	18	23309678	y	y	splicing	TMEM241(NM_032933:exon15:c.830+2T>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.467+2T>G;ENST00000581444:exon15:c.863+2T>G;ENST00000473688:exon14:c.781+2T>G;ENST00000477053:exon11:c.701+2T>G;ENST00000383233:exon15:c.830+2T>G;ENST00000460322:exon12:c.621+2T>G;ENST00000542162:exon14:c.784+2T>G)	.	.	0.999966514958823	0.926
18	20889642	A	G	18	23309678	y	y	splicing	TMEM241(NM_032933:exon15:c.830+2T>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.467+2T>C;ENST00000581444:exon15:c.863+2T>C;ENST00000473688:exon14:c.781+2T>C;ENST00000477053:exon11:c.701+2T>C;ENST00000383233:exon15:c.830+2T>C;ENST00000460322:exon12:c.621+2T>C;ENST00000542162:exon14:c.784+2T>C)	.	.	0.967810124643345	0.6
18	20889642	A	T	18	23309678	y	y	splicing	TMEM241(NM_032933:exon15:c.830+2T>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.467+2T>A;ENST00000581444:exon15:c.863+2T>A;ENST00000473688:exon14:c.781+2T>A;ENST00000477053:exon11:c.701+2T>A;ENST00000383233:exon15:c.830+2T>A;ENST00000460322:exon12:c.621+2T>A;ENST00000542162:exon14:c.784+2T>A)	.	.	0.999966514958823	0.944
18	20889643	C	A	18	23309679	y	y	splicing	TMEM241(NM_032933:exon15:c.830+1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.467+1G>T;ENST00000581444:exon15:c.863+1G>T;ENST00000473688:exon14:c.781+1G>T;ENST00000477053:exon11:c.701+1G>T;ENST00000383233:exon15:c.830+1G>T;ENST00000460322:exon12:c.621+1G>T;ENST00000542162:exon14:c.784+1G>T)	.	.	0.999916487880886	0.95
18	20889643	C	G	18	23309679	y	y	splicing	TMEM241(NM_032933:exon15:c.830+1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.467+1G>C;ENST00000581444:exon15:c.863+1G>C;ENST00000473688:exon14:c.781+1G>C;ENST00000477053:exon11:c.701+1G>C;ENST00000383233:exon15:c.830+1G>C;ENST00000460322:exon12:c.621+1G>C;ENST00000542162:exon14:c.784+1G>C)	.	.	0.999945520654368	0.948
18	20889643	C	T	18	23309679	y	y	splicing	TMEM241(NM_032933:exon15:c.830+1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.467+1G>A;ENST00000581444:exon15:c.863+1G>A;ENST00000473688:exon14:c.781+1G>A;ENST00000477053:exon11:c.701+1G>A;ENST00000383233:exon15:c.830+1G>A;ENST00000460322:exon12:c.621+1G>A;ENST00000542162:exon14:c.784+1G>A)	.	.	0.999916487880886	0.956
18	20889644	C	A	18	23309680	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.G830T:p.C277F;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000450466:exon14:c.G467T:p.X156L;	0.85019942540878	0.62
18	20889644	C	G	18	23309680	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.G830C:p.C277S;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000450466:exon14:c.G467C:p.X156S;	0.763665967423686	0.552
18	20889644	C	T	18	23309680	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.G830A:p.C277Y;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.G830A:p.C277Y;	0.999346099245055	0.968
18	20889645	A	C	18	23309681	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.T829G:p.C277G;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000450466:exon14:c.T466G:p.X156G;	6.88385492245575E-4	0.09
18	20889645	A	G	18	23309681	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.T829C:p.C277R;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000450466:exon14:c.T466C:p.X156R;	0.00142718680027156	0.09
18	20889645	A	T	18	23309681	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.T829A:p.C277S;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000450466:exon14:c.T466A:p.X156R;	4.90598251199224E-4	0.08
18	20889646	T	A	18	23309682	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon14:c.A828T:p.G276G;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.A828T:p.G276G;ENSG00000134490:ENST00000450466:exon14:c.A465T:p.G155G;	2.69043745861975E-4	0.084
18	20889646	T	C	18	23309682	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon14:c.A828G:p.G276G;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.A828G:p.G276G;ENSG00000134490:ENST00000450466:exon14:c.A465G:p.G155G;	7.16892857673593E-5	0.0
18	20889646	T	G	18	23309682	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon14:c.A828C:p.G276G;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.A828C:p.G276G;ENSG00000134490:ENST00000450466:exon14:c.A465C:p.G155G;	6.04766428766548E-5	0.0
18	20889707	A	C	18	23309743	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.T767G:p.I256R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.T767G:p.I256R;ENSG00000134490:ENST00000450466:exon14:c.T404G:p.I135R;	0.0146833320282036	0.154
18	20889707	A	G	18	23309743	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.T767C:p.I256T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.T767C:p.I256T;ENSG00000134490:ENST00000450466:exon14:c.T404C:p.I135T;	0.00300616700749679	0.118
18	20889707	A	T	18	23309743	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.T767A:p.I256K;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.T767A:p.I256K;ENSG00000134490:ENST00000450466:exon14:c.T404A:p.I135K;	0.0143019062799562	0.168
18	20889708	T	A	18	23309744	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.A766T:p.I256L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.A766T:p.I256L;ENSG00000134490:ENST00000450466:exon14:c.A403T:p.I135L;	0.00220962023659805	0.156
18	20889708	T	C	18	23309744	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.A766G:p.I256V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.A766G:p.I256V;ENSG00000134490:ENST00000450466:exon14:c.A403G:p.I135V;	1.0362275121566E-5	0.008
18	20889708	T	G	18	23309744	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon14:c.A766C:p.I256L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon14:c.A766C:p.I256L;ENSG00000134490:ENST00000450466:exon14:c.A403C:p.I135L;	0.00110796957506918	0.166
18	20889709	C	A	18	23309745	y	y	splicing	TMEM241(NM_032933:exon15:c.766-1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.403-1G>T;ENST00000581444:exon15:c.799-1G>T;ENST00000473688:exon14:c.717-1G>T;ENST00000477053:exon11:c.637-1G>T;ENST00000383233:exon15:c.766-1G>T;ENST00000460322:exon12:c.557-1G>T;ENST00000542162:exon14:c.720-1G>T)	.	.	0.999946168983569	0.89
18	20889709	C	G	18	23309745	y	y	splicing	TMEM241(NM_032933:exon15:c.766-1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.403-1G>C;ENST00000581444:exon15:c.799-1G>C;ENST00000473688:exon14:c.717-1G>C;ENST00000477053:exon11:c.637-1G>C;ENST00000383233:exon15:c.766-1G>C;ENST00000460322:exon12:c.557-1G>C;ENST00000542162:exon14:c.720-1G>C)	.	.	0.999946168983569	0.874
18	20889709	C	T	18	23309745	y	y	splicing	TMEM241(NM_032933:exon15:c.766-1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.403-1G>A;ENST00000581444:exon15:c.799-1G>A;ENST00000473688:exon14:c.717-1G>A;ENST00000477053:exon11:c.637-1G>A;ENST00000383233:exon15:c.766-1G>A;ENST00000460322:exon12:c.557-1G>A;ENST00000542162:exon14:c.720-1G>A)	.	.	0.99995124505692	0.9
18	20889710	T	A	18	23309746	y	y	splicing	TMEM241(NM_032933:exon15:c.766-2A>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.403-2A>T;ENST00000581444:exon15:c.799-2A>T;ENST00000473688:exon14:c.717-2A>T;ENST00000477053:exon11:c.637-2A>T;ENST00000383233:exon15:c.766-2A>T;ENST00000460322:exon12:c.557-2A>T;ENST00000542162:exon14:c.720-2A>T)	.	.	0.999968585001639	0.884
18	20889710	T	C	18	23309746	y	y	splicing	TMEM241(NM_032933:exon15:c.766-2A>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.403-2A>G;ENST00000581444:exon15:c.799-2A>G;ENST00000473688:exon14:c.717-2A>G;ENST00000477053:exon11:c.637-2A>G;ENST00000383233:exon15:c.766-2A>G;ENST00000460322:exon12:c.557-2A>G;ENST00000542162:exon14:c.720-2A>G)	.	.	0.999965314197099	0.882
18	20889710	T	G	18	23309746	y	y	splicing	TMEM241(NM_032933:exon15:c.766-2A>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon15:c.403-2A>C;ENST00000581444:exon15:c.799-2A>C;ENST00000473688:exon14:c.717-2A>C;ENST00000477053:exon11:c.637-2A>C;ENST00000383233:exon15:c.766-2A>C;ENST00000460322:exon12:c.557-2A>C;ENST00000542162:exon14:c.720-2A>C)	.	.	0.999965314197099	0.88
18	20889711	G	A	18	23309747	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00645356670765008	0.166
18	20889711	G	C	18	23309747	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99876721977949	0.664
18	20889711	G	T	18	23309747	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.992046461615005	0.758
18	20889712	T	A	18	23309748	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.98629869006968E-5	0.002
18	20889712	T	C	18	23309748	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.25197770263479E-4	0.04
18	20889712	T	G	18	23309748	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.99327742171168E-4	0.018
18	20889713	A	C	18	23309749	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0178722769837965	0.316
18	20889713	A	G	18	23309749	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.00403085276093E-5	0.058
18	20889713	A	T	18	23309749	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.101518030953678	0.356
18	20889714	G	A	18	23309750	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.14298282709817E-4	0.012
18	20889714	G	C	18	23309750	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0125254444375789	0.316
18	20889714	G	T	18	23309750	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00820260476641303	0.262
18	20889715	A	C	18	23309751	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.388416384711279	0.51
18	20889715	A	G	18	23309751	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.19365094504707E-4	0.064
18	20889715	A	T	18	23309751	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.689180116550442	0.598
18	20889716	A	C	18	23309752	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00557449246710498	0.302
18	20889716	A	G	18	23309752	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.16064655337598E-5	0.034
18	20889716	A	T	18	23309752	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0254446829397329	0.322
18	20889717	A	C	18	23309753	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999937381735028	0.974
18	20889717	A	G	18	23309753	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0285361335792499	0.154
18	20889717	A	T	18	23309753	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.633936152184937	0.658
18	20889718	T	A	18	23309754	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.71869413685155E-5	0.01
18	20889718	T	C	18	23309754	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.54012476397855E-5	0.0
18	20889718	T	G	18	23309754	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.1908508647763E-5	0.0
18	20889719	A	C	18	23309755	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.154296379976469	0.374
18	20889719	A	G	18	23309755	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00965192798797905	0.174
18	20889719	A	T	18	23309755	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.131768881291109	0.404
18	20889720	A	C	18	23309756	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999869801646027	0.974
18	20889720	A	G	18	23309756	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0054419137187203	0.14
18	20889720	A	T	18	23309756	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.289087700380123	0.54
18	20932152	T	A	18	23352188	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.14850402615726E-5	0.002
18	20932152	T	C	18	23352188	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.59034071532942E-5	0.0
18	20932152	T	G	18	23352188	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.89261404042647E-5	0.0
18	20932153	C	A	18	23352189	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.73335233949402E-5	0.0
18	20932153	C	G	18	23352189	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.56531030779445E-5	0.0
18	20932153	C	T	18	23352189	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.71551595103369E-5	0.002
18	20932154	T	A	18	23352190	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.15420166864331E-4	0.008
18	20932154	T	C	18	23352190	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.41379952632545E-4	0.004
18	20932154	T	G	18	23352190	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00526624697295553	0.02
18	20932155	C	A	18	23352191	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99272568155606	0.612
18	20932155	C	G	18	23352191	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.954333535115003	0.74
18	20932155	C	T	18	23352191	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99857166830844	0.79
18	20932156	T	A	18	23352192	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.98988434829161	0.86
18	20932156	T	C	18	23352192	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.994998901729802	0.878
18	20932156	T	G	18	23352192	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.987697318619464	0.854
18	20932157	T	A	18	23352193	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996940993253367	0.946
18	20932157	T	C	18	23352193	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.905670105582057	0.486
18	20932157	T	G	18	23352193	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997490718445603	0.87
18	20932158	A	C	18	23352194	y	y	splicing	TMEM241(NM_032933:exon14:c.765+2T>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.402+2T>G;ENST00000581444:exon14:c.798+2T>G;ENST00000473688:exon13:c.716+2T>G;ENST00000477053:exon10:c.636+2T>G;ENST00000383233:exon14:c.765+2T>G;ENST00000460322:exon11:c.556+2T>G;ENST00000542162:exon13:c.719+2T>G)	.	.	0.999988247793601	0.928
18	20932158	A	G	18	23352194	y	y	splicing	TMEM241(NM_032933:exon14:c.765+2T>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.402+2T>C;ENST00000581444:exon14:c.798+2T>C;ENST00000473688:exon13:c.716+2T>C;ENST00000477053:exon10:c.636+2T>C;ENST00000383233:exon14:c.765+2T>C;ENST00000460322:exon11:c.556+2T>C;ENST00000542162:exon13:c.719+2T>C)	.	.	0.99340600729494	0.62
18	20932158	A	T	18	23352194	y	y	splicing	TMEM241(NM_032933:exon14:c.765+2T>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.402+2T>A;ENST00000581444:exon14:c.798+2T>A;ENST00000473688:exon13:c.716+2T>A;ENST00000477053:exon10:c.636+2T>A;ENST00000383233:exon14:c.765+2T>A;ENST00000460322:exon11:c.556+2T>A;ENST00000542162:exon13:c.719+2T>A)	.	.	0.999988247793601	0.928
18	20932159	C	A	18	23352195	y	y	splicing	TMEM241(NM_032933:exon14:c.765+1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.402+1G>T;ENST00000581444:exon14:c.798+1G>T;ENST00000473688:exon13:c.716+1G>T;ENST00000477053:exon10:c.636+1G>T;ENST00000383233:exon14:c.765+1G>T;ENST00000460322:exon11:c.556+1G>T;ENST00000542162:exon13:c.719+1G>T)	.	.	0.999985532734767	0.938
18	20932159	C	G	18	23352195	y	y	splicing	TMEM241(NM_032933:exon14:c.765+1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.402+1G>C;ENST00000581444:exon14:c.798+1G>C;ENST00000473688:exon13:c.716+1G>C;ENST00000477053:exon10:c.636+1G>C;ENST00000383233:exon14:c.765+1G>C;ENST00000460322:exon11:c.556+1G>C;ENST00000542162:exon13:c.719+1G>C)	.	.	0.999985532734767	0.938
18	20932159	C	T	18	23352195	y	y	splicing	TMEM241(NM_032933:exon14:c.765+1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.402+1G>A;ENST00000581444:exon14:c.798+1G>A;ENST00000473688:exon13:c.716+1G>A;ENST00000477053:exon10:c.636+1G>A;ENST00000383233:exon14:c.765+1G>A;ENST00000460322:exon11:c.556+1G>A;ENST00000542162:exon13:c.719+1G>A)	.	.	0.999985532734767	0.938
18	20932160	C	A	18	23352196	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.G765T:p.K255N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.G765T:p.K255N;ENSG00000134490:ENST00000450466:exon13:c.G402T:p.K134N;	0.999706937006799	0.99
18	20932160	C	G	18	23352196	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.G765C:p.K255N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.G765C:p.K255N;ENSG00000134490:ENST00000450466:exon13:c.G402C:p.K134N;	0.999951344554162	0.98
18	20932160	C	T	18	23352196	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon13:c.G765A:p.K255K;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.G765A:p.K255K;ENSG00000134490:ENST00000450466:exon13:c.G402A:p.K134K;	0.999251217124391	0.982
18	20932161	T	A	18	23352197	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.A764T:p.K255M;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.A764T:p.K255M;ENSG00000134490:ENST00000450466:exon13:c.A401T:p.K134M;	0.990217375316349	0.666
18	20932161	T	C	18	23352197	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.A764G:p.K255R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.A764G:p.K255R;ENSG00000134490:ENST00000450466:exon13:c.A401G:p.K134R;	0.996417729176859	0.926
18	20932161	T	G	18	23352197	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.A764C:p.K255T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.A764C:p.K255T;ENSG00000134490:ENST00000450466:exon13:c.A401C:p.K134T;	0.990999777381114	0.862
18	20932162	T	A	18	23352198	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon13:c.A763T:p.K255X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon13:c.A763T:p.K255X;ENSG00000134490:ENST00000450466:exon13:c.A400T:p.K134X;	0.00520516150054516	0.26
18	20932162	T	C	18	23352198	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.A763G:p.K255E;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.A763G:p.K255E;ENSG00000134490:ENST00000450466:exon13:c.A400G:p.K134E;	8.359658703836E-5	0.05
18	20932162	T	G	18	23352198	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.A763C:p.K255Q;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.A763C:p.K255Q;ENSG00000134490:ENST00000450466:exon13:c.A400C:p.K134Q;	2.06060687883913E-5	0.054
18	20932252	C	A	18	23352288	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon13:c.G673T:p.G225X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon13:c.G673T:p.G225X;ENSG00000134490:ENST00000578520:exon10:c.G556T:p.G186X;ENSG00000134490:ENST00000450466:exon13:c.G310T:p.G104X;	0.981096301166885	0.824
18	20932252	C	G	18	23352288	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.G673C:p.G225R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.G673C:p.G225R;ENSG00000134490:ENST00000578520:exon10:c.G556C:p.G186R;ENSG00000134490:ENST00000450466:exon13:c.G310C:p.G104R;	0.0228629306381931	0.192
18	20932252	C	T	18	23352288	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.G673A:p.G225R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.G673A:p.G225R;ENSG00000134490:ENST00000578520:exon10:c.G556A:p.G186R;ENSG00000134490:ENST00000450466:exon13:c.G310A:p.G104R;	0.575022628260284	0.422
18	20932253	A	C	18	23352289	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.T672G:p.S224R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.T672G:p.S224R;ENSG00000134490:ENST00000578520:exon10:c.T555G:p.S185R;ENSG00000134490:ENST00000450466:exon13:c.T309G:p.S103R;	1.19462529322377E-4	0.068
18	20932253	A	G	18	23352289	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon13:c.T672C:p.S224S;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.T672C:p.S224S;ENSG00000134490:ENST00000578520:exon10:c.T555C:p.S185S;ENSG00000134490:ENST00000450466:exon13:c.T309C:p.S103S;	1.13263943336978E-4	0.01
18	20932253	A	T	18	23352289	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon13:c.T672A:p.S224R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon13:c.T672A:p.S224R;ENSG00000134490:ENST00000578520:exon10:c.T555A:p.S185R;ENSG00000134490:ENST00000450466:exon13:c.T309A:p.S103R;	2.79961788647386E-5	0.0
18	20932254	C	A	18	23352290	y	y	splicing	TMEM241(NM_032933:exon14:c.672-1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.309-1G>T;ENST00000581444:exon14:c.705-1G>T;ENST00000473688:exon13:c.623-1G>T;ENST00000477053:exon10:c.543-1G>T;ENST00000383233:exon14:c.672-1G>T;ENST00000460322:exon11:c.463-1G>T;ENST00000542162:exon13:c.626-1G>T;ENST00000578520:exon11:c.555-1G>T;ENST00000482411:exon12:c.576-1G>T)	.	.	0.999985532734767	0.938
18	20932254	C	G	18	23352290	y	y	splicing	TMEM241(NM_032933:exon14:c.672-1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.309-1G>C;ENST00000581444:exon14:c.705-1G>C;ENST00000473688:exon13:c.623-1G>C;ENST00000477053:exon10:c.543-1G>C;ENST00000383233:exon14:c.672-1G>C;ENST00000460322:exon11:c.463-1G>C;ENST00000542162:exon13:c.626-1G>C;ENST00000578520:exon11:c.555-1G>C;ENST00000482411:exon12:c.576-1G>C)	.	.	0.999985532734767	0.938
18	20932254	C	T	18	23352290	y	y	splicing	TMEM241(NM_032933:exon14:c.672-1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.309-1G>A;ENST00000581444:exon14:c.705-1G>A;ENST00000473688:exon13:c.623-1G>A;ENST00000477053:exon10:c.543-1G>A;ENST00000383233:exon14:c.672-1G>A;ENST00000460322:exon11:c.463-1G>A;ENST00000542162:exon13:c.626-1G>A;ENST00000578520:exon11:c.555-1G>A;ENST00000482411:exon12:c.576-1G>A)	.	.	0.999985532734767	0.938
18	20932255	T	A	18	23352291	y	y	splicing	TMEM241(NM_032933:exon14:c.672-2A>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.309-2A>T;ENST00000581444:exon14:c.705-2A>T;ENST00000473688:exon13:c.623-2A>T;ENST00000477053:exon10:c.543-2A>T;ENST00000383233:exon14:c.672-2A>T;ENST00000460322:exon11:c.463-2A>T;ENST00000542162:exon13:c.626-2A>T;ENST00000578520:exon11:c.555-2A>T;ENST00000482411:exon12:c.576-2A>T)	.	.	0.999988247793601	0.928
18	20932255	T	C	18	23352291	y	y	splicing	TMEM241(NM_032933:exon14:c.672-2A>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.309-2A>G;ENST00000581444:exon14:c.705-2A>G;ENST00000473688:exon13:c.623-2A>G;ENST00000477053:exon10:c.543-2A>G;ENST00000383233:exon14:c.672-2A>G;ENST00000460322:exon11:c.463-2A>G;ENST00000542162:exon13:c.626-2A>G;ENST00000578520:exon11:c.555-2A>G;ENST00000482411:exon12:c.576-2A>G)	.	.	0.999988247793601	0.928
18	20932255	T	G	18	23352291	y	y	splicing	TMEM241(NM_032933:exon14:c.672-2A>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon14:c.309-2A>C;ENST00000581444:exon14:c.705-2A>C;ENST00000473688:exon13:c.623-2A>C;ENST00000477053:exon10:c.543-2A>C;ENST00000383233:exon14:c.672-2A>C;ENST00000460322:exon11:c.463-2A>C;ENST00000542162:exon13:c.626-2A>C;ENST00000578520:exon11:c.555-2A>C;ENST00000482411:exon12:c.576-2A>C)	.	.	0.999988247793601	0.928
18	20932256	G	A	18	23352292	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.033890745191216	0.138
18	20932256	G	C	18	23352292	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999898143523026	0.938
18	20932256	G	T	18	23352292	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998167784012106	0.91
18	20932257	G	A	18	23352293	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.52409706789925E-4	0.006
18	20932257	G	C	18	23352293	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.96232941450927E-4	0.002
18	20932257	G	T	18	23352293	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.68610272279358E-4	0.014
18	20932258	A	C	18	23352294	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.563478122699701	0.47
18	20932258	A	G	18	23352294	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.230920821494564	0.45
18	20932258	A	T	18	23352294	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.620382050349624	0.522
18	20932259	A	C	18	23352295	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0771859480555405	0.134
18	20932259	A	G	18	23352295	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.87232581905444E-4	0.004
18	20932259	A	T	18	23352295	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0233263476661325	0.12
18	20932260	G	A	18	23352296	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.40042768821539E-4	0.006
18	20932260	G	C	18	23352296	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0144925342008521	0.102
18	20932260	G	T	18	23352296	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0283363384734233	0.126
18	20932261	G	A	18	23352297	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00164634089467698	0.06
18	20932261	G	C	18	23352297	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0307726712487394	0.114
18	20932261	G	T	18	23352297	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0136865934251894	0.124
18	20932262	A	C	18	23352298	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.855232218795046	0.53
18	20932262	A	G	18	23352298	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.519358575663939	0.484
18	20932262	A	T	18	23352298	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.873313593448205	0.548
18	20932263	G	A	18	23352299	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.50118661418778E-4	0.098
18	20932263	G	C	18	23352299	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.99496535578797E-4	0.116
18	20932263	G	T	18	23352299	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00101154058415525	0.184
18	20932264	A	C	18	23352300	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.853928705045717	0.528
18	20932264	A	G	18	23352300	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.118294679838333	0.32
18	20932264	A	T	18	23352300	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.890925157414878	0.552
18	20932265	A	C	18	23352301	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.754408035777005	0.414
18	20932265	A	G	18	23352301	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.269626089886636	0.312
18	20932265	A	T	18	23352301	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.674702118960503	0.448
18	20936550	A	C	18	23356586	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.80035508515248E-5	0.0
18	20936550	A	G	18	23356586	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.28925176769738E-5	0.002
18	20936550	A	T	18	23356586	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.89704304997111E-5	0.0
18	20936551	C	A	18	23356587	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.36220045537036E-5	0.008
18	20936551	C	G	18	23356587	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.45667536247747E-5	0.0
18	20936551	C	T	18	23356587	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.45667536247747E-5	0.0
18	20936552	G	A	18	23356588	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.02671272595553E-5	0.0
18	20936552	G	C	18	23356588	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.25609401172713E-5	0.012
18	20936552	G	T	18	23356588	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.6154768199838E-5	0.008
18	20936553	A	C	18	23356589	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.88354093849178E-5	0.01
18	20936553	A	G	18	23356589	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.30950028676701E-5	0.0
18	20936553	A	T	18	23356589	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.42044186940636E-5	0.008
18	20936554	T	A	18	23356590	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.363171342055601	0.476
18	20936554	T	C	18	23356590	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.577839927962355	0.536
18	20936554	T	G	18	23356590	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0472689714920554	0.508
18	20936555	T	A	18	23356591	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999917646806259	0.966
18	20936555	T	C	18	23356591	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997292895271387	0.768
18	20936555	T	G	18	23356591	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999880967060516	0.944
18	20936556	A	C	18	23356592	y	y	splicing	TMEM241(NM_032933:exon13:c.671+2T>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.308+2T>G;ENST00000581444:exon13:c.704+2T>G;ENST00000473688:exon12:c.622+2T>G;ENST00000477053:exon9:c.542+2T>G;ENST00000383233:exon13:c.671+2T>G;ENST00000460322:exon10:c.462+2T>G;ENST00000542162:exon12:c.625+2T>G;ENST00000578520:exon10:c.554+2T>G;ENST00000482411:exon11:c.575+2T>G)	.	.	0.999978952611685	0.926
18	20936556	A	G	18	23356592	y	y	splicing	TMEM241(NM_032933:exon13:c.671+2T>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.308+2T>C;ENST00000581444:exon13:c.704+2T>C;ENST00000473688:exon12:c.622+2T>C;ENST00000477053:exon9:c.542+2T>C;ENST00000383233:exon13:c.671+2T>C;ENST00000460322:exon10:c.462+2T>C;ENST00000542162:exon12:c.625+2T>C;ENST00000578520:exon10:c.554+2T>C;ENST00000482411:exon11:c.575+2T>C)	.	.	0.994635980776358	0.618
18	20936556	A	T	18	23356592	y	y	splicing	TMEM241(NM_032933:exon13:c.671+2T>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.308+2T>A;ENST00000581444:exon13:c.704+2T>A;ENST00000473688:exon12:c.622+2T>A;ENST00000477053:exon9:c.542+2T>A;ENST00000383233:exon13:c.671+2T>A;ENST00000460322:exon10:c.462+2T>A;ENST00000542162:exon12:c.625+2T>A;ENST00000578520:exon10:c.554+2T>A;ENST00000482411:exon11:c.575+2T>A)	.	.	0.999988247793601	0.924
18	20936557	C	A	18	23356593	y	y	splicing	TMEM241(NM_032933:exon13:c.671+1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.308+1G>T;ENST00000581444:exon13:c.704+1G>T;ENST00000473688:exon12:c.622+1G>T;ENST00000477053:exon9:c.542+1G>T;ENST00000383233:exon13:c.671+1G>T;ENST00000460322:exon10:c.462+1G>T;ENST00000542162:exon12:c.625+1G>T;ENST00000578520:exon10:c.554+1G>T;ENST00000482411:exon11:c.575+1G>T)	.	.	0.999986675681007	0.934
18	20936557	C	G	18	23356593	y	y	splicing	TMEM241(NM_032933:exon13:c.671+1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.308+1G>C;ENST00000581444:exon13:c.704+1G>C;ENST00000473688:exon12:c.622+1G>C;ENST00000477053:exon9:c.542+1G>C;ENST00000383233:exon13:c.671+1G>C;ENST00000460322:exon10:c.462+1G>C;ENST00000542162:exon12:c.625+1G>C;ENST00000578520:exon10:c.554+1G>C;ENST00000482411:exon11:c.575+1G>C)	.	.	0.999986675681007	0.934
18	20936557	C	T	18	23356593	y	y	splicing	TMEM241(NM_032933:exon13:c.671+1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.308+1G>A;ENST00000581444:exon13:c.704+1G>A;ENST00000473688:exon12:c.622+1G>A;ENST00000477053:exon9:c.542+1G>A;ENST00000383233:exon13:c.671+1G>A;ENST00000460322:exon10:c.462+1G>A;ENST00000542162:exon12:c.625+1G>A;ENST00000578520:exon10:c.554+1G>A;ENST00000482411:exon11:c.575+1G>A)	.	.	0.999986675681007	0.928
18	20936558	C	A	18	23356594	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.G671T:p.S224I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.G671T:p.S224I;ENSG00000134490:ENST00000578520:exon9:c.G554T:p.S185I;ENSG00000134490:ENST00000450466:exon12:c.G308T:p.S103I;	0.999972295817813	0.98
18	20936558	C	G	18	23356594	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.G671C:p.S224T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.G671C:p.S224T;ENSG00000134490:ENST00000578520:exon9:c.G554C:p.S185T;ENSG00000134490:ENST00000450466:exon12:c.G308C:p.S103T;	0.999993500959892	0.998
18	20936558	C	T	18	23356594	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.G671A:p.S224N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.G671A:p.S224N;ENSG00000134490:ENST00000578520:exon9:c.G554A:p.S185N;ENSG00000134490:ENST00000450466:exon12:c.G308A:p.S103N;	0.999981982087355	0.998
18	20936559	T	A	18	23356595	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.A670T:p.S224C;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.A670T:p.S224C;ENSG00000134490:ENST00000578520:exon9:c.A553T:p.S185C;ENSG00000134490:ENST00000450466:exon12:c.A307T:p.S103C;	0.997362343469917	0.954
18	20936559	T	C	18	23356595	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.A670G:p.S224G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.A670G:p.S224G;ENSG00000134490:ENST00000578520:exon9:c.A553G:p.S185G;ENSG00000134490:ENST00000450466:exon12:c.A307G:p.S103G;	0.995142501138643	0.93
18	20936559	T	G	18	23356595	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.A670C:p.S224R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.A670C:p.S224R;ENSG00000134490:ENST00000578520:exon9:c.A553C:p.S185R;ENSG00000134490:ENST00000450466:exon12:c.A307C:p.S103R;	0.996105474922126	0.944
18	20936560	G	A	18	23356596	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon12:c.C669T:p.A223A;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.C669T:p.A223A;ENSG00000134490:ENST00000578520:exon9:c.C552T:p.A184A;ENSG00000134490:ENST00000450466:exon12:c.C306T:p.A102A;	0.997154839050005	0.85
18	20936560	G	C	18	23356596	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon12:c.C669G:p.A223A;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.C669G:p.A223A;ENSG00000134490:ENST00000578520:exon9:c.C552G:p.A184A;ENSG00000134490:ENST00000450466:exon12:c.C306G:p.A102A;	0.0351640843385142	0.3
18	20936560	G	T	18	23356596	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon12:c.C669A:p.A223A;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.C669A:p.A223A;ENSG00000134490:ENST00000578520:exon9:c.C552A:p.A184A;ENSG00000134490:ENST00000450466:exon12:c.C306A:p.A102A;	0.347973237893071	0.352
18	20936626	A	C	18	23356662	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon12:c.T603G:p.G201G;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.T603G:p.G201G;ENSG00000134490:ENST00000578520:exon9:c.T486G:p.G162G;ENSG00000134490:ENST00000450466:exon12:c.T240G:p.G80G;	8.65520242939901E-4	0.026
18	20936626	A	G	18	23356662	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon12:c.T603C:p.G201G;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.T603C:p.G201G;ENSG00000134490:ENST00000578520:exon9:c.T486C:p.G162G;ENSG00000134490:ENST00000450466:exon12:c.T240C:p.G80G;	7.54141499354031E-4	0.036
18	20936626	A	T	18	23356662	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon12:c.T603A:p.G201G;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.T603A:p.G201G;ENSG00000134490:ENST00000578520:exon9:c.T486A:p.G162G;ENSG00000134490:ENST00000450466:exon12:c.T240A:p.G80G;	7.54141499354031E-4	0.056
18	20936627	C	A	18	23356663	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.G602T:p.G201V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.G602T:p.G201V;ENSG00000134490:ENST00000578520:exon9:c.G485T:p.G162V;ENSG00000134490:ENST00000450466:exon12:c.G239T:p.G80V;	0.981651484917301	0.842
18	20936627	C	G	18	23356663	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.G602C:p.G201A;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.G602C:p.G201A;ENSG00000134490:ENST00000578520:exon9:c.G485C:p.G162A;ENSG00000134490:ENST00000450466:exon12:c.G239C:p.G80A;	0.99007689304618	0.82
18	20936627	C	T	18	23356663	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon12:c.G602A:p.G201D;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon12:c.G602A:p.G201D;ENSG00000134490:ENST00000578520:exon9:c.G485A:p.G162D;ENSG00000134490:ENST00000450466:exon12:c.G239A:p.G80D;	0.810632275079153	0.558
18	20936628	C	A	18	23356664	y	y	splicing	TMEM241(NM_032933:exon13:c.602-1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.239-1G>T;ENST00000581444:exon13:c.635-1G>T;ENST00000473688:exon12:c.553-1G>T;ENST00000477053:exon9:c.473-1G>T;ENST00000383233:exon13:c.602-1G>T;ENST00000460322:exon10:c.393-1G>T;ENST00000542162:exon12:c.556-1G>T;ENST00000578520:exon10:c.485-1G>T;ENST00000482411:exon11:c.506-1G>T;ENST00000497608:exon12:c.520-1G>T;ENST00000577531:exon12:c.557-1G>T)	.	.	0.999990361384395	0.938
18	20936628	C	G	18	23356664	y	y	splicing	TMEM241(NM_032933:exon13:c.602-1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.239-1G>C;ENST00000581444:exon13:c.635-1G>C;ENST00000473688:exon12:c.553-1G>C;ENST00000477053:exon9:c.473-1G>C;ENST00000383233:exon13:c.602-1G>C;ENST00000460322:exon10:c.393-1G>C;ENST00000542162:exon12:c.556-1G>C;ENST00000578520:exon10:c.485-1G>C;ENST00000482411:exon11:c.506-1G>C;ENST00000497608:exon12:c.520-1G>C;ENST00000577531:exon12:c.557-1G>C)	.	.	0.999990361384395	0.936
18	20936628	C	T	18	23356664	y	y	splicing	TMEM241(NM_032933:exon13:c.602-1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.239-1G>A;ENST00000581444:exon13:c.635-1G>A;ENST00000473688:exon12:c.553-1G>A;ENST00000477053:exon9:c.473-1G>A;ENST00000383233:exon13:c.602-1G>A;ENST00000460322:exon10:c.393-1G>A;ENST00000542162:exon12:c.556-1G>A;ENST00000578520:exon10:c.485-1G>A;ENST00000482411:exon11:c.506-1G>A;ENST00000497608:exon12:c.520-1G>A;ENST00000577531:exon12:c.557-1G>A)	.	.	0.999990361384395	0.938
18	20936629	T	A	18	23356665	y	y	splicing	TMEM241(NM_032933:exon13:c.602-2A>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.239-2A>T;ENST00000581444:exon13:c.635-2A>T;ENST00000473688:exon12:c.553-2A>T;ENST00000477053:exon9:c.473-2A>T;ENST00000383233:exon13:c.602-2A>T;ENST00000460322:exon10:c.393-2A>T;ENST00000542162:exon12:c.556-2A>T;ENST00000578520:exon10:c.485-2A>T;ENST00000482411:exon11:c.506-2A>T;ENST00000497608:exon12:c.520-2A>T;ENST00000577531:exon12:c.557-2A>T)	.	.	0.999988247793601	0.932
18	20936629	T	C	18	23356665	y	y	splicing	TMEM241(NM_032933:exon13:c.602-2A>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.239-2A>G;ENST00000581444:exon13:c.635-2A>G;ENST00000473688:exon12:c.553-2A>G;ENST00000477053:exon9:c.473-2A>G;ENST00000383233:exon13:c.602-2A>G;ENST00000460322:exon10:c.393-2A>G;ENST00000542162:exon12:c.556-2A>G;ENST00000578520:exon10:c.485-2A>G;ENST00000482411:exon11:c.506-2A>G;ENST00000497608:exon12:c.520-2A>G;ENST00000577531:exon12:c.557-2A>G)	.	.	0.999988247793601	0.93
18	20936629	T	G	18	23356665	y	y	splicing	TMEM241(NM_032933:exon13:c.602-2A>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon13:c.239-2A>C;ENST00000581444:exon13:c.635-2A>C;ENST00000473688:exon12:c.553-2A>C;ENST00000477053:exon9:c.473-2A>C;ENST00000383233:exon13:c.602-2A>C;ENST00000460322:exon10:c.393-2A>C;ENST00000542162:exon12:c.556-2A>C;ENST00000578520:exon10:c.485-2A>C;ENST00000482411:exon11:c.506-2A>C;ENST00000497608:exon12:c.520-2A>C;ENST00000577531:exon12:c.557-2A>C)	.	.	0.999988247793601	0.93
18	20936630	G	A	18	23356666	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0014526807947835	0.016
18	20936630	G	C	18	23356666	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999860648431855	0.954
18	20936630	G	T	18	23356666	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.963707644990267	0.59
18	20936631	A	C	18	23356667	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.8124890019455E-5	0.0
18	20936631	A	G	18	23356667	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.03678168881286E-5	0.002
18	20936631	A	T	18	23356667	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.53155402631773E-5	0.0
18	20936632	G	A	18	23356668	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.9767802419005E-5	0.0
18	20936632	G	C	18	23356668	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.11276264778654E-4	0.11
18	20936632	G	T	18	23356668	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.16128700479011E-4	0.162
18	20936633	G	A	18	23356669	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0188003545230883	0.216
18	20936633	G	C	18	23356669	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.167134667868097	0.326
18	20936633	G	T	18	23356669	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.275357729259033	0.37
18	20936634	G	A	18	23356670	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.19643424979163E-4	0.034
18	20936634	G	C	18	23356670	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0048927914444443	0.17
18	20936634	G	T	18	23356670	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00555811775359446	0.156
18	20936635	G	A	18	23356671	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.32598462752649E-5	0.004
18	20936635	G	C	18	23356671	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00174089561265483	0.086
18	20936635	G	T	18	23356671	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00352929401148349	0.09
18	20936636	A	C	18	23356672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.312186336134194	0.348
18	20936636	A	G	18	23356672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.63608798606351E-5	0.026
18	20936636	A	T	18	23356672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.412984208806881	0.364
18	20936637	A	C	18	23356673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998281439049653	0.918
18	20936637	A	G	18	23356673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.389078145651705	0.532
18	20936637	A	T	18	23356673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998577566597315	0.924
18	20936638	C	A	18	23356674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.43927280845257E-6	0.012
18	20936638	C	G	18	23356674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.81539040982651E-6	0.01
18	20936638	C	T	18	23356674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.39283187046237E-5	0.066
18	20936639	A	C	18	23356675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.933796588431349	0.718
18	20936639	A	G	18	23356675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0023601844880605	0.112
18	20936639	A	T	18	23356675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999926591870482	0.948
18	20945590	G	A	18	23365626	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.43134211345449E-5	0.0
18	20945590	G	C	18	23365626	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.55732795064064E-5	0.0
18	20945590	G	T	18	23365626	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.43134211345449E-5	0.0
18	20945591	C	A	18	23365627	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.74342458316521E-5	0.004
18	20945591	C	G	18	23365627	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.52155485145495E-5	0.01
18	20945591	C	T	18	23365627	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.52155485145495E-5	0.002
18	20945592	A	C	18	23365628	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.48064041634068E-4	0.082
18	20945592	A	G	18	23365628	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.40375169630865E-4	0.068
18	20945592	A	T	18	23365628	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.5139421730955E-5	0.064
18	20945593	T	A	18	23365629	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.59407720186954E-4	0.04
18	20945593	T	C	18	23365629	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.54022427268733E-5	0.05
18	20945593	T	G	18	23365629	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.39511843998718E-4	0.046
18	20945594	T	A	18	23365630	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.905738057377663	0.566
18	20945594	T	C	18	23365630	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.762778636682332	0.558
18	20945594	T	G	18	23365630	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.754236600615502	0.526
18	20945595	T	A	18	23365631	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999562591632666	0.866
18	20945595	T	C	18	23365631	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.948916484498371	0.728
18	20945595	T	G	18	23365631	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999614450253839	0.866
18	20945596	A	C	18	23365632	y	y	splicing	TMEM241(NM_032933:exon12:c.601+2T>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.238+2T>G;ENST00000581444:exon12:c.634+2T>G;ENST00000473688:exon11:c.552+2T>G;ENST00000383233:exon12:c.601+2T>G;ENST00000460322:exon9:c.392+2T>G;ENST00000542162:exon11:c.555+2T>G;ENST00000482411:exon10:c.505+2T>G;ENST00000497608:exon11:c.519+2T>G;ENST00000577531:exon11:c.556+2T>G)	.	.	0.999988247793601	0.93
18	20945596	A	G	18	23365632	y	y	splicing	TMEM241(NM_032933:exon12:c.601+2T>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.238+2T>C;ENST00000581444:exon12:c.634+2T>C;ENST00000473688:exon11:c.552+2T>C;ENST00000383233:exon12:c.601+2T>C;ENST00000460322:exon9:c.392+2T>C;ENST00000542162:exon11:c.555+2T>C;ENST00000482411:exon10:c.505+2T>C;ENST00000497608:exon11:c.519+2T>C;ENST00000577531:exon11:c.556+2T>C)	.	.	0.99340600729494	0.682
18	20945596	A	T	18	23365632	y	y	splicing	TMEM241(NM_032933:exon12:c.601+2T>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.238+2T>A;ENST00000581444:exon12:c.634+2T>A;ENST00000473688:exon11:c.552+2T>A;ENST00000383233:exon12:c.601+2T>A;ENST00000460322:exon9:c.392+2T>A;ENST00000542162:exon11:c.555+2T>A;ENST00000482411:exon10:c.505+2T>A;ENST00000497608:exon11:c.519+2T>A;ENST00000577531:exon11:c.556+2T>A)	.	.	0.999988247793601	0.93
18	20945597	C	A	18	23365633	y	y	splicing	TMEM241(NM_032933:exon12:c.601+1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.238+1G>T;ENST00000581444:exon12:c.634+1G>T;ENST00000473688:exon11:c.552+1G>T;ENST00000383233:exon12:c.601+1G>T;ENST00000460322:exon9:c.392+1G>T;ENST00000542162:exon11:c.555+1G>T;ENST00000482411:exon10:c.505+1G>T;ENST00000497608:exon11:c.519+1G>T;ENST00000577531:exon11:c.556+1G>T)	.	.	0.999990361384395	0.938
18	20945597	C	G	18	23365633	y	y	splicing	TMEM241(NM_032933:exon12:c.601+1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.238+1G>C;ENST00000581444:exon12:c.634+1G>C;ENST00000473688:exon11:c.552+1G>C;ENST00000383233:exon12:c.601+1G>C;ENST00000460322:exon9:c.392+1G>C;ENST00000542162:exon11:c.555+1G>C;ENST00000482411:exon10:c.505+1G>C;ENST00000497608:exon11:c.519+1G>C;ENST00000577531:exon11:c.556+1G>C)	.	.	0.999990361384395	0.938
18	20945597	C	T	18	23365633	y	y	splicing	TMEM241(NM_032933:exon12:c.601+1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.238+1G>A;ENST00000581444:exon12:c.634+1G>A;ENST00000473688:exon11:c.552+1G>A;ENST00000383233:exon12:c.601+1G>A;ENST00000460322:exon9:c.392+1G>A;ENST00000542162:exon11:c.555+1G>A;ENST00000482411:exon10:c.505+1G>A;ENST00000497608:exon11:c.519+1G>A;ENST00000577531:exon11:c.556+1G>A)	.	.	0.999990361384395	0.938
18	20945598	C	A	18	23365634	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.G601T:p.G201C;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.G601T:p.G201C;ENSG00000134490:ENST00000450466:exon11:c.G238T:p.G80C;	0.99994241768234	0.99
18	20945598	C	G	18	23365634	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.G601C:p.G201R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.G601C:p.G201R;ENSG00000134490:ENST00000450466:exon11:c.G238C:p.G80R;	0.999995490690819	0.992
18	20945598	C	T	18	23365634	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.G601A:p.G201S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.G601A:p.G201S;ENSG00000134490:ENST00000450466:exon11:c.G238A:p.G80S;	0.999961904542557	0.862
18	20945599	T	A	18	23365635	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon11:c.A600T:p.T200T;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.A600T:p.T200T;ENSG00000134490:ENST00000582336:exon10:c.A564T:p.T188T;ENSG00000134490:ENST00000450466:exon11:c.A237T:p.T79T;	0.999778021114629	0.982
18	20945599	T	C	18	23365635	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon11:c.A600G:p.T200T;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.A600G:p.T200T;ENSG00000134490:ENST00000582336:exon10:c.A564G:p.T188T;ENSG00000134490:ENST00000450466:exon11:c.A237G:p.T79T;	0.998199292128627	0.942
18	20945599	T	G	18	23365635	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon11:c.A600C:p.T200T;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.A600C:p.T200T;ENSG00000134490:ENST00000582336:exon10:c.A564C:p.T188T;ENSG00000134490:ENST00000450466:exon11:c.A237C:p.T79T;	0.991936867436142	0.894
18	20945600	G	A	18	23365636	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.C599T:p.T200I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.C599T:p.T200I;ENSG00000134490:ENST00000582336:exon10:c.C563T:p.T188I;ENSG00000134490:ENST00000450466:exon11:c.C236T:p.T79I;	0.999073735029629	0.908
18	20945600	G	C	18	23365636	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.C599G:p.T200R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.C599G:p.T200R;ENSG00000134490:ENST00000582336:exon10:c.C563G:p.T188R;ENSG00000134490:ENST00000450466:exon11:c.C236G:p.T79R;	0.926736865931242	0.626
18	20945600	G	T	18	23365636	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.C599A:p.T200K;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.C599A:p.T200K;ENSG00000134490:ENST00000582336:exon10:c.C563A:p.T188K;ENSG00000134490:ENST00000450466:exon11:c.C236A:p.T79K;	0.957736990535326	0.82
18	20945631	C	A	18	23365667	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.G568T:p.V190L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.G568T:p.V190L;ENSG00000134490:ENST00000582336:exon10:c.G532T:p.V178L;ENSG00000134490:ENST00000450466:exon11:c.G205T:p.V69L;	0.226545048995525	0.338
18	20945631	C	G	18	23365667	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.G568C:p.V190L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.G568C:p.V190L;ENSG00000134490:ENST00000582336:exon10:c.G532C:p.V178L;ENSG00000134490:ENST00000450466:exon11:c.G205C:p.V69L;	0.112935136007132	0.35
18	20945631	C	T	18	23365667	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.G568A:p.V190M;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.G568A:p.V190M;ENSG00000134490:ENST00000582336:exon10:c.G532A:p.V178M;ENSG00000134490:ENST00000450466:exon11:c.G205A:p.V69M;	0.0404122076556674	0.238
18	20945632	A	C	18	23365668	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.T567G:p.S189R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.T567G:p.S189R;ENSG00000134490:ENST00000582336:exon10:c.T531G:p.S177R;ENSG00000134490:ENST00000450466:exon11:c.T204G:p.S68R;	3.25940359695875E-4	0.31
18	20945632	A	G	18	23365668	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon11:c.T567C:p.S189S;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.T567C:p.S189S;ENSG00000134490:ENST00000582336:exon10:c.T531C:p.S177S;ENSG00000134490:ENST00000450466:exon11:c.T204C:p.S68S;	1.16220668679088E-4	0.026
18	20945632	A	T	18	23365668	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon11:c.T567A:p.S189R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon11:c.T567A:p.S189R;ENSG00000134490:ENST00000582336:exon10:c.T531A:p.S177R;ENSG00000134490:ENST00000450466:exon11:c.T204A:p.S68R;	1.7289308215387E-4	0.28
18	20945633	C	A	18	23365669	y	y	splicing	TMEM241(NM_032933:exon12:c.567-1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.204-1G>T;ENST00000581444:exon12:c.600-1G>T;ENST00000473688:exon11:c.518-1G>T;ENST00000383233:exon12:c.567-1G>T;ENST00000460322:exon9:c.358-1G>T;ENST00000542162:exon11:c.521-1G>T;ENST00000482411:exon10:c.471-1G>T;ENST00000497608:exon11:c.485-1G>T;ENST00000577531:exon11:c.522-1G>T;ENST00000582336:exon11:c.531-1G>T)	.	.	0.999990361384395	0.936
18	20945633	C	G	18	23365669	y	y	splicing	TMEM241(NM_032933:exon12:c.567-1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.204-1G>C;ENST00000581444:exon12:c.600-1G>C;ENST00000473688:exon11:c.518-1G>C;ENST00000383233:exon12:c.567-1G>C;ENST00000460322:exon9:c.358-1G>C;ENST00000542162:exon11:c.521-1G>C;ENST00000482411:exon10:c.471-1G>C;ENST00000497608:exon11:c.485-1G>C;ENST00000577531:exon11:c.522-1G>C;ENST00000582336:exon11:c.531-1G>C)	.	.	0.999990361384395	0.936
18	20945633	C	T	18	23365669	y	y	splicing	TMEM241(NM_032933:exon12:c.567-1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.204-1G>A;ENST00000581444:exon12:c.600-1G>A;ENST00000473688:exon11:c.518-1G>A;ENST00000383233:exon12:c.567-1G>A;ENST00000460322:exon9:c.358-1G>A;ENST00000542162:exon11:c.521-1G>A;ENST00000482411:exon10:c.471-1G>A;ENST00000497608:exon11:c.485-1G>A;ENST00000577531:exon11:c.522-1G>A;ENST00000582336:exon11:c.531-1G>A)	.	.	0.999990361384395	0.936
18	20945634	T	A	18	23365670	y	y	splicing	TMEM241(NM_032933:exon12:c.567-2A>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.204-2A>T;ENST00000581444:exon12:c.600-2A>T;ENST00000473688:exon11:c.518-2A>T;ENST00000383233:exon12:c.567-2A>T;ENST00000460322:exon9:c.358-2A>T;ENST00000542162:exon11:c.521-2A>T;ENST00000482411:exon10:c.471-2A>T;ENST00000497608:exon11:c.485-2A>T;ENST00000577531:exon11:c.522-2A>T;ENST00000582336:exon11:c.531-2A>T)	.	.	0.999988247793601	0.924
18	20945634	T	C	18	23365670	y	y	splicing	TMEM241(NM_032933:exon12:c.567-2A>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.204-2A>G;ENST00000581444:exon12:c.600-2A>G;ENST00000473688:exon11:c.518-2A>G;ENST00000383233:exon12:c.567-2A>G;ENST00000460322:exon9:c.358-2A>G;ENST00000542162:exon11:c.521-2A>G;ENST00000482411:exon10:c.471-2A>G;ENST00000497608:exon11:c.485-2A>G;ENST00000577531:exon11:c.522-2A>G;ENST00000582336:exon11:c.531-2A>G)	.	.	0.999988247793601	0.924
18	20945634	T	G	18	23365670	y	y	splicing	TMEM241(NM_032933:exon12:c.567-2A>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon12:c.204-2A>C;ENST00000581444:exon12:c.600-2A>C;ENST00000473688:exon11:c.518-2A>C;ENST00000383233:exon12:c.567-2A>C;ENST00000460322:exon9:c.358-2A>C;ENST00000542162:exon11:c.521-2A>C;ENST00000482411:exon10:c.471-2A>C;ENST00000497608:exon11:c.485-2A>C;ENST00000577531:exon11:c.522-2A>C;ENST00000582336:exon11:c.531-2A>C)	.	.	0.999988247793601	0.924
18	20945635	G	A	18	23365671	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0407063285697131	0.05
18	20945635	G	C	18	23365671	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999823264450717	0.874
18	20945635	G	T	18	23365671	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.814688218270978	0.7
18	20945636	G	A	18	23365672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.3959827816729E-5	0.002
18	20945636	G	C	18	23365672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.57556199006616E-5	0.0
18	20945636	G	T	18	23365672	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.85810734273683E-5	0.0
18	20945637	A	C	18	23365673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0292575399973847	0.354
18	20945637	A	G	18	23365673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00992721269691397	0.148
18	20945637	A	T	18	23365673	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00743390162741825	0.276
18	20945638	A	C	18	23365674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.539490625907254	0.448
18	20945638	A	G	18	23365674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00488526615281273	0.104
18	20945638	A	T	18	23365674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.579508769245581	0.492
18	20945639	A	C	18	23365675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0798289312523417	0.226
18	20945639	A	G	18	23365675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00162551232032435	0.076
18	20945639	A	T	18	23365675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.229726197016604	0.306
18	20945640	A	C	18	23365676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0101051222153115	0.126
18	20945640	A	G	18	23365676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00155428904026117	0.04
18	20945640	A	T	18	23365676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00901373329616149	0.076
18	20945641	G	A	18	23365677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.42641672381624E-4	0.032
18	20945641	G	C	18	23365677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00773047955777037	0.156
18	20945641	G	T	18	23365677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0453300567001573	0.152
18	20945642	A	C	18	23365678	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00776283593076088	0.176
18	20945642	A	G	18	23365678	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00286688547464125	0.206
18	20945642	A	T	18	23365678	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00964464883736677	0.206
18	20945643	G	A	18	23365679	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.9219597151703E-5	0.004
18	20945643	G	C	18	23365679	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.06268500399474E-4	0.01
18	20945643	G	T	18	23365679	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.13909233843018E-4	0.006
18	20945644	A	C	18	23365680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0300081551333412	0.2
18	20945644	A	G	18	23365680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.76262224979308E-4	0.096
18	20945644	A	T	18	23365680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0316491060501463	0.22
18	20948671	T	A	18	23368707	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.09577004329421E-5	0.01
18	20948671	T	C	18	23368707	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.10318339842523E-4	0.018
18	20948671	T	G	18	23368707	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.25208817816003E-4	0.132
18	20948672	A	C	18	23368708	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00744434974502655	0.066
18	20948672	A	G	18	23368708	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00744434974502655	0.058
18	20948672	A	T	18	23368708	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00845462264425357	0.064
18	20948673	T	A	18	23368709	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0061276620597852	0.064
18	20948673	T	C	18	23368709	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00152641914497612	0.084
18	20948673	T	G	18	23368709	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0114349852385181	0.048
18	20948674	T	A	18	23368710	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.51760482295012E-4	0.108
18	20948674	T	C	18	23368710	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.29356050534433E-5	0.05
18	20948674	T	G	18	23368710	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.7854887849384E-4	0.04
18	20948675	T	A	18	23368711	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.995330673539073	0.878
18	20948675	T	C	18	23368711	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.982159696167117	0.78
18	20948675	T	G	18	23368711	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.992469638552654	0.76
18	20948676	T	A	18	23368712	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999824018482716	0.97
18	20948676	T	C	18	23368712	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999502021650728	0.962
18	20948676	T	G	18	23368712	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99977607576038	0.984
18	20948677	A	C	18	23368713	y	y	splicing	TMEM241(NM_032933:exon11:c.566+2T>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.203+2T>G;ENST00000581444:exon11:c.599+2T>G;ENST00000473688:exon10:c.517+2T>G;ENST00000383233:exon11:c.566+2T>G;ENST00000460322:exon8:c.357+2T>G;ENST00000542162:exon10:c.520+2T>G;ENST00000482411:exon9:c.470+2T>G;ENST00000497608:exon10:c.484+2T>G;ENST00000577531:exon10:c.521+2T>G)	.	.	0.999988247793601	0.93
18	20948677	A	G	18	23368713	y	y	splicing	TMEM241(NM_032933:exon11:c.566+2T>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.203+2T>C;ENST00000581444:exon11:c.599+2T>C;ENST00000473688:exon10:c.517+2T>C;ENST00000383233:exon11:c.566+2T>C;ENST00000460322:exon8:c.357+2T>C;ENST00000542162:exon10:c.520+2T>C;ENST00000482411:exon9:c.470+2T>C;ENST00000497608:exon10:c.484+2T>C;ENST00000577531:exon10:c.521+2T>C)	.	.	0.997781565257106	0.706
18	20948677	A	T	18	23368713	y	y	splicing	TMEM241(NM_032933:exon11:c.566+2T>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.203+2T>A;ENST00000581444:exon11:c.599+2T>A;ENST00000473688:exon10:c.517+2T>A;ENST00000383233:exon11:c.566+2T>A;ENST00000460322:exon8:c.357+2T>A;ENST00000542162:exon10:c.520+2T>A;ENST00000482411:exon9:c.470+2T>A;ENST00000497608:exon10:c.484+2T>A;ENST00000577531:exon10:c.521+2T>A)	.	.	0.999988247793601	0.93
18	20948678	C	A	18	23368714	y	y	splicing	TMEM241(NM_032933:exon11:c.566+1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.203+1G>T;ENST00000581444:exon11:c.599+1G>T;ENST00000473688:exon10:c.517+1G>T;ENST00000383233:exon11:c.566+1G>T;ENST00000460322:exon8:c.357+1G>T;ENST00000542162:exon10:c.520+1G>T;ENST00000482411:exon9:c.470+1G>T;ENST00000497608:exon10:c.484+1G>T;ENST00000577531:exon10:c.521+1G>T)	.	.	0.999990361384395	0.938
18	20948678	C	G	18	23368714	y	y	splicing	TMEM241(NM_032933:exon11:c.566+1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.203+1G>C;ENST00000581444:exon11:c.599+1G>C;ENST00000473688:exon10:c.517+1G>C;ENST00000383233:exon11:c.566+1G>C;ENST00000460322:exon8:c.357+1G>C;ENST00000542162:exon10:c.520+1G>C;ENST00000482411:exon9:c.470+1G>C;ENST00000497608:exon10:c.484+1G>C;ENST00000577531:exon10:c.521+1G>C)	.	.	0.999990361384395	0.938
18	20948678	C	T	18	23368714	y	y	splicing	TMEM241(NM_032933:exon11:c.566+1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.203+1G>A;ENST00000581444:exon11:c.599+1G>A;ENST00000473688:exon10:c.517+1G>A;ENST00000383233:exon11:c.566+1G>A;ENST00000460322:exon8:c.357+1G>A;ENST00000542162:exon10:c.520+1G>A;ENST00000482411:exon9:c.470+1G>A;ENST00000497608:exon10:c.484+1G>A;ENST00000577531:exon10:c.521+1G>A)	.	.	0.999990361384395	0.938
18	20948679	C	A	18	23368715	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.G566T:p.S189I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.G566T:p.S189I;ENSG00000134490:ENST00000450466:exon10:c.G203T:p.S68I;	0.999993018555097	1.0
18	20948679	C	G	18	23368715	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.G566C:p.S189T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.G566C:p.S189T;ENSG00000134490:ENST00000450466:exon10:c.G203C:p.S68T;	0.999998122414291	1.0
18	20948679	C	T	18	23368715	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.G566A:p.S189N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.G566A:p.S189N;ENSG00000134490:ENST00000450466:exon10:c.G203A:p.S68N;	0.999994222381975	1.0
18	20948680	T	A	18	23368716	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.A565T:p.S189C;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.A565T:p.S189C;ENSG00000134490:ENST00000450466:exon10:c.A202T:p.S68C;	0.999551396786066	0.98
18	20948680	T	C	18	23368716	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.A565G:p.S189G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.A565G:p.S189G;ENSG00000134490:ENST00000450466:exon10:c.A202G:p.S68G;	0.99975314151645	0.99
18	20948680	T	G	18	23368716	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.A565C:p.S189R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.A565C:p.S189R;ENSG00000134490:ENST00000450466:exon10:c.A202C:p.S68R;	0.997356617551642	0.928
18	20948681	G	A	18	23368717	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon10:c.C564T:p.F188F;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.C564T:p.F188F;ENSG00000134490:ENST00000450466:exon10:c.C201T:p.F67F;	0.999455413158914	0.944
18	20948681	G	C	18	23368717	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.C564G:p.F188L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.C564G:p.F188L;ENSG00000134490:ENST00000450466:exon10:c.C201G:p.F67L;	0.963954939028964	0.668
18	20948681	G	T	18	23368717	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.C564A:p.F188L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.C564A:p.F188L;ENSG00000134490:ENST00000450466:exon10:c.C201A:p.F67L;	0.987713869897999	0.746
18	20948713	C	A	18	23368749	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.G532T:p.D178Y;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.G532T:p.D178Y;ENSG00000134490:ENST00000450466:exon10:c.G169T:p.D57Y;	0.977770104346795	0.826
18	20948713	C	G	18	23368749	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.G532C:p.D178H;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.G532C:p.D178H;ENSG00000134490:ENST00000450466:exon10:c.G169C:p.D57H;	0.983017862454734	0.842
18	20948713	C	T	18	23368749	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.G532A:p.D178N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.G532A:p.D178N;ENSG00000134490:ENST00000450466:exon10:c.G169A:p.D57N;	0.983305875540178	0.774
18	20948714	A	C	18	23368750	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.T531G:p.S177R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.T531G:p.S177R;ENSG00000134490:ENST00000542162:exon9:c.T485G:p.V162G;ENSG00000134490:ENST00000450466:exon10:c.T168G:p.S56R;	0.0436801324617009	0.392
18	20948714	A	G	18	23368750	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon10:c.T531C:p.S177S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000542162:exon9:c.T485C:p.V162A;	1.71020819544669E-4	0.062
18	20948714	A	T	18	23368750	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon10:c.T531A:p.S177R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon10:c.T531A:p.S177R;ENSG00000134490:ENST00000542162:exon9:c.T485A:p.V162E;ENSG00000134490:ENST00000450466:exon10:c.T168A:p.S56R;	0.0215928325149115	0.274
18	20948715	C	A	18	23368751	y	y	splicing	TMEM241(NM_032933:exon11:c.531-1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.168-1G>T;ENST00000581444:exon11:c.564-1G>T;ENST00000473688:exon10:c.482-1G>T;ENST00000383233:exon11:c.531-1G>T;ENST00000460322:exon8:c.322-1G>T;ENST00000542162:exon10:c.485-1G>T;ENST00000482411:exon9:c.435-1G>T;ENST00000497608:exon10:c.449-1G>T;ENST00000577531:exon10:c.486-1G>T)	.	.	0.999992425382947	0.942
18	20948715	C	G	18	23368751	y	y	splicing	TMEM241(NM_032933:exon11:c.531-1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.168-1G>C;ENST00000581444:exon11:c.564-1G>C;ENST00000473688:exon10:c.482-1G>C;ENST00000383233:exon11:c.531-1G>C;ENST00000460322:exon8:c.322-1G>C;ENST00000542162:exon10:c.485-1G>C;ENST00000482411:exon9:c.435-1G>C;ENST00000497608:exon10:c.449-1G>C;ENST00000577531:exon10:c.486-1G>C)	.	.	0.999992425382947	0.942
18	20948715	C	T	18	23368751	y	y	splicing	TMEM241(NM_032933:exon11:c.531-1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.168-1G>A;ENST00000581444:exon11:c.564-1G>A;ENST00000473688:exon10:c.482-1G>A;ENST00000383233:exon11:c.531-1G>A;ENST00000460322:exon8:c.322-1G>A;ENST00000542162:exon10:c.485-1G>A;ENST00000482411:exon9:c.435-1G>A;ENST00000497608:exon10:c.449-1G>A;ENST00000577531:exon10:c.486-1G>A)	.	.	0.999992425382947	0.942
18	20948716	T	A	18	23368752	y	y	splicing	TMEM241(NM_032933:exon11:c.531-2A>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.168-2A>T;ENST00000581444:exon11:c.564-2A>T;ENST00000473688:exon10:c.482-2A>T;ENST00000383233:exon11:c.531-2A>T;ENST00000460322:exon8:c.322-2A>T;ENST00000542162:exon10:c.485-2A>T;ENST00000482411:exon9:c.435-2A>T;ENST00000497608:exon10:c.449-2A>T;ENST00000577531:exon10:c.486-2A>T)	.	.	0.999990764389106	0.942
18	20948716	T	C	18	23368752	y	y	splicing	TMEM241(NM_032933:exon11:c.531-2A>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.168-2A>G;ENST00000581444:exon11:c.564-2A>G;ENST00000473688:exon10:c.482-2A>G;ENST00000383233:exon11:c.531-2A>G;ENST00000460322:exon8:c.322-2A>G;ENST00000542162:exon10:c.485-2A>G;ENST00000482411:exon9:c.435-2A>G;ENST00000497608:exon10:c.449-2A>G;ENST00000577531:exon10:c.486-2A>G)	.	.	0.999990764389106	0.942
18	20948716	T	G	18	23368752	y	y	splicing	TMEM241(NM_032933:exon11:c.531-2A>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon11:c.168-2A>C;ENST00000581444:exon11:c.564-2A>C;ENST00000473688:exon10:c.482-2A>C;ENST00000383233:exon11:c.531-2A>C;ENST00000460322:exon8:c.322-2A>C;ENST00000542162:exon10:c.485-2A>C;ENST00000482411:exon9:c.435-2A>C;ENST00000497608:exon10:c.449-2A>C;ENST00000577531:exon10:c.486-2A>C)	.	.	0.999990764389106	0.942
18	20948717	A	C	18	23368753	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996077766507513	0.754
18	20948717	A	G	18	23368753	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.10740611551058E-5	0.01
18	20948717	A	T	18	23368753	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0270834475512597	0.314
18	20948718	A	C	18	23368754	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00146029573730364	0.166
18	20948718	A	G	18	23368754	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.03997391515625E-4	0.056
18	20948718	A	T	18	23368754	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.08762410324465E-4	0.028
18	20948719	G	A	18	23368755	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.85382590295844E-4	0.004
18	20948719	G	C	18	23368755	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.265244752017062	0.206
18	20948719	G	T	18	23368755	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.023213752748152	0.128
18	20948720	G	A	18	23368756	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.1475061535146E-5	0.016
18	20948720	G	C	18	23368756	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.58480130375662E-4	0.202
18	20948720	G	T	18	23368756	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.38220954503812E-4	0.186
18	20948721	A	C	18	23368757	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00754074541772097	0.07
18	20948721	A	G	18	23368757	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.24309073323914E-4	0.0
18	20948721	A	T	18	23368757	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0199165008066701	0.084
18	20948722	A	C	18	23368758	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999618272713454	0.988
18	20948722	A	G	18	23368758	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0371354889556095	0.088
18	20948722	A	T	18	23368758	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.250496495028169	0.35
18	20948723	T	A	18	23368759	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.51252247746325E-5	0.1
18	20948723	T	C	18	23368759	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.72168612897738E-4	0.056
18	20948723	T	G	18	23368759	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.69843714863702E-5	0.024
18	20948724	G	A	18	23368760	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.50298853802573E-5	0.042
18	20948724	G	C	18	23368760	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00325336479589191	0.144
18	20948724	G	T	18	23368760	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00430156041444618	0.218
18	20948725	A	C	18	23368761	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.249202573429565	0.58
18	20948725	A	G	18	23368761	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.169915666972016	0.466
18	20948725	A	T	18	23368761	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.762740825573904	0.664
18	20948726	G	A	18	23368762	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.46418808685811E-4	0.152
18	20948726	G	C	18	23368762	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.55569891592015E-4	0.132
18	20948726	G	T	18	23368762	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.64589576774747E-4	0.21
18	20950172	G	A	18	23370208	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.60119364403354E-5	0.0
18	20950172	G	C	18	23370208	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.08457171098356E-4	0.0
18	20950172	G	T	18	23370208	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.08457171098356E-4	0.0
18	20950173	A	C	18	23370209	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.2669078239869E-4	0.004
18	20950173	A	G	18	23370209	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.79803881559188E-4	0.008
18	20950173	A	T	18	23370209	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.07172622676152E-4	0.008
18	20950174	G	A	18	23370210	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.82829793587166E-5	0.006
18	20950174	G	C	18	23370210	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.90227841799192E-5	0.024
18	20950174	G	T	18	23370210	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.3614156257493E-5	0.006
18	20950175	T	A	18	23370211	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.10505495451096E-4	0.004
18	20950175	T	C	18	23370211	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.40533082957744E-5	0.014
18	20950175	T	G	18	23370211	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.98612219153333E-4	0.018
18	20950176	T	A	18	23370212	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.357004027544225	0.45
18	20950176	T	C	18	23370212	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.352284164395555	0.454
18	20950176	T	G	18	23370212	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0999226188472705	0.37
18	20950177	T	A	18	23370213	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999398778256435	0.976
18	20950177	T	C	18	23370213	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.976668983143424	0.684
18	20950177	T	G	18	23370213	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999682331751449	0.948
18	20950178	A	C	18	23370214	y	y	splicing	TMEM241(NM_032933:exon10:c.530+2T>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.167+2T>G;ENST00000581444:exon10:c.563+2T>G;ENST00000473688:exon9:c.481+2T>G;ENST00000383233:exon10:c.530+2T>G;ENST00000460322:exon7:c.321+2T>G;ENST00000482411:exon8:c.434+2T>G;ENST00000497608:exon9:c.448+2T>G;ENST00000582336:exon10:c.530+2T>G)	.	.	0.999972155025474	0.848
18	20950178	A	G	18	23370214	y	y	splicing	TMEM241(NM_032933:exon10:c.530+2T>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.167+2T>C;ENST00000581444:exon10:c.563+2T>C;ENST00000473688:exon9:c.481+2T>C;ENST00000383233:exon10:c.530+2T>C;ENST00000460322:exon7:c.321+2T>C;ENST00000482411:exon8:c.434+2T>C;ENST00000497608:exon9:c.448+2T>C;ENST00000582336:exon10:c.530+2T>C)	.	.	0.962495781102311	0.564
18	20950178	A	T	18	23370214	y	y	splicing	TMEM241(NM_032933:exon10:c.530+2T>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.167+2T>A;ENST00000581444:exon10:c.563+2T>A;ENST00000473688:exon9:c.481+2T>A;ENST00000383233:exon10:c.530+2T>A;ENST00000460322:exon7:c.321+2T>A;ENST00000482411:exon8:c.434+2T>A;ENST00000497608:exon9:c.448+2T>A;ENST00000582336:exon10:c.530+2T>A)	.	.	0.999982151912279	0.89
18	20950179	C	A	18	23370215	y	y	splicing	TMEM241(NM_032933:exon10:c.530+1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.167+1G>T;ENST00000581444:exon10:c.563+1G>T;ENST00000473688:exon9:c.481+1G>T;ENST00000383233:exon10:c.530+1G>T;ENST00000460322:exon7:c.321+1G>T;ENST00000482411:exon8:c.434+1G>T;ENST00000497608:exon9:c.448+1G>T;ENST00000582336:exon10:c.530+1G>T)	.	.	0.99996469115006	0.906
18	20950179	C	G	18	23370215	y	y	splicing	TMEM241(NM_032933:exon10:c.530+1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.167+1G>C;ENST00000581444:exon10:c.563+1G>C;ENST00000473688:exon9:c.481+1G>C;ENST00000383233:exon10:c.530+1G>C;ENST00000460322:exon7:c.321+1G>C;ENST00000482411:exon8:c.434+1G>C;ENST00000497608:exon9:c.448+1G>C;ENST00000582336:exon10:c.530+1G>C)	.	.	0.99996469115006	0.91
18	20950179	C	T	18	23370215	y	y	splicing	TMEM241(NM_032933:exon10:c.530+1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.167+1G>A;ENST00000581444:exon10:c.563+1G>A;ENST00000473688:exon9:c.481+1G>A;ENST00000383233:exon10:c.530+1G>A;ENST00000460322:exon7:c.321+1G>A;ENST00000482411:exon8:c.434+1G>A;ENST00000497608:exon9:c.448+1G>A;ENST00000582336:exon10:c.530+1G>A)	.	.	0.999940858364002	0.916
18	20950180	C	A	18	23370216	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.G530T:p.S177I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon9:c.G530T:p.S177I;ENSG00000134490:ENST00000582336:exon9:c.G530T:p.S177I;ENSG00000134490:ENST00000450466:exon9:c.G167T:p.S56I;	0.999985911796736	1.0
18	20950180	C	G	18	23370216	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.G530C:p.S177T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon9:c.G530C:p.S177T;ENSG00000134490:ENST00000582336:exon9:c.G530C:p.S177T;ENSG00000134490:ENST00000450466:exon9:c.G167C:p.S56T;	0.999991419975143	0.994
18	20950180	C	T	18	23370216	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.G530A:p.S177N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon9:c.G530A:p.S177N;ENSG00000134490:ENST00000582336:exon9:c.G530A:p.S177N;ENSG00000134490:ENST00000450466:exon9:c.G167A:p.S56N;	0.999995569311173	1.0
18	20950181	T	A	18	23370217	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.A529T:p.S177C;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000473688:exon8:c.A480T:p.X160Y;	0.980917991999622	0.66
18	20950181	T	C	18	23370217	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.A529G:p.S177G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon9:c.A529G:p.S177G;ENSG00000134490:ENST00000582336:exon9:c.A529G:p.S177G;ENSG00000134490:ENST00000450466:exon9:c.A166G:p.S56G;	0.998877333509556	0.966
18	20950181	T	G	18	23370217	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.A529C:p.S177R;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000473688:exon8:c.A480C:p.X160Y;	0.403085158333395	0.482
18	20950182	T	A	18	23370218	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.A528T:p.L176F;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000473688:exon8:c.A479T:p.X160L;	0.164615390253767	0.418
18	20950182	T	C	18	23370218	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon9:c.A528G:p.L176L;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon9:c.A528G:p.L176L;ENSG00000134490:ENST00000582336:exon9:c.A528G:p.L176L;ENSG00000134490:ENST00000473688:exon8:c.A479G:p.X160X;ENSG00000134490:ENST00000450466:exon9:c.A165G:p.L55L;	0.00360361053220908	0.046
18	20950182	T	G	18	23370218	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.A528C:p.L176F;	exonic	ENSG00000134490	stoploss SNV	ENSG00000134490:ENST00000473688:exon8:c.A479C:p.X160S;	1.11259721023111E-4	0.004
18	20950224	C	A	18	23370260	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon9:c.G486T:p.G162G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000473688:exon8:c.G437T:p.G146V;	1.14582557778699E-4	0.0
18	20950224	C	G	18	23370260	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon9:c.G486C:p.G162G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000473688:exon8:c.G437C:p.G146A;	1.32319013515342E-5	0.008
18	20950224	C	T	18	23370260	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon9:c.G486A:p.G162G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000473688:exon8:c.G437A:p.G146E;	1.00059736059931E-4	0.0
18	20950225	C	A	18	23370261	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.G485T:p.G162V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon9:c.G485T:p.G162V;ENSG00000134490:ENST00000582336:exon9:c.G485T:p.G162V;ENSG00000134490:ENST00000473688:exon8:c.G436T:p.G146W;ENSG00000134490:ENST00000450466:exon9:c.G122T:p.G41V;	0.999369916043016	0.938
18	20950225	C	G	18	23370261	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.G485C:p.G162A;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon9:c.G485C:p.G162A;ENSG00000134490:ENST00000582336:exon9:c.G485C:p.G162A;ENSG00000134490:ENST00000473688:exon8:c.G436C:p.G146R;ENSG00000134490:ENST00000450466:exon9:c.G122C:p.G41A;	0.759349800279208	0.602
18	20950225	C	T	18	23370261	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon9:c.G485A:p.G162E;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon9:c.G485A:p.G162E;ENSG00000134490:ENST00000582336:exon9:c.G485A:p.G162E;ENSG00000134490:ENST00000473688:exon8:c.G436A:p.G146R;ENSG00000134490:ENST00000450466:exon9:c.G122A:p.G41E;	0.388034044134803	0.546
18	20950226	C	A	18	23370262	y	y	splicing	TMEM241(NM_032933:exon10:c.485-1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.122-1G>T;ENST00000581444:exon10:c.518-1G>T;ENST00000473688:exon9:c.436-1G>T;ENST00000383233:exon10:c.485-1G>T;ENST00000460322:exon7:c.276-1G>T;ENST00000482411:exon8:c.389-1G>T;ENST00000497608:exon9:c.403-1G>T;ENST00000582336:exon10:c.485-1G>T)	.	.	0.999938422912956	0.942
18	20950226	C	G	18	23370262	y	y	splicing	TMEM241(NM_032933:exon10:c.485-1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.122-1G>C;ENST00000581444:exon10:c.518-1G>C;ENST00000473688:exon9:c.436-1G>C;ENST00000383233:exon10:c.485-1G>C;ENST00000460322:exon7:c.276-1G>C;ENST00000482411:exon8:c.389-1G>C;ENST00000497608:exon9:c.403-1G>C;ENST00000582336:exon10:c.485-1G>C)	.	.	0.999938422912956	0.946
18	20950226	C	T	18	23370262	y	y	splicing	TMEM241(NM_032933:exon10:c.485-1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.122-1G>A;ENST00000581444:exon10:c.518-1G>A;ENST00000473688:exon9:c.436-1G>A;ENST00000383233:exon10:c.485-1G>A;ENST00000460322:exon7:c.276-1G>A;ENST00000482411:exon8:c.389-1G>A;ENST00000497608:exon9:c.403-1G>A;ENST00000582336:exon10:c.485-1G>A)	.	.	0.999938422912956	0.942
18	20950227	T	A	18	23370263	y	y	splicing	TMEM241(NM_032933:exon10:c.485-2A>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.122-2A>T;ENST00000581444:exon10:c.518-2A>T;ENST00000473688:exon9:c.436-2A>T;ENST00000383233:exon10:c.485-2A>T;ENST00000460322:exon7:c.276-2A>T;ENST00000482411:exon8:c.389-2A>T;ENST00000497608:exon9:c.403-2A>T;ENST00000582336:exon10:c.485-2A>T)	.	.	0.99994568797423	0.936
18	20950227	T	C	18	23370263	y	y	splicing	TMEM241(NM_032933:exon10:c.485-2A>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.122-2A>G;ENST00000581444:exon10:c.518-2A>G;ENST00000473688:exon9:c.436-2A>G;ENST00000383233:exon10:c.485-2A>G;ENST00000460322:exon7:c.276-2A>G;ENST00000482411:exon8:c.389-2A>G;ENST00000497608:exon9:c.403-2A>G;ENST00000582336:exon10:c.485-2A>G)	.	.	0.99994568797423	0.94
18	20950227	T	G	18	23370263	y	y	splicing	TMEM241(NM_032933:exon10:c.485-2A>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon10:c.122-2A>C;ENST00000581444:exon10:c.518-2A>C;ENST00000473688:exon9:c.436-2A>C;ENST00000383233:exon10:c.485-2A>C;ENST00000460322:exon7:c.276-2A>C;ENST00000482411:exon8:c.389-2A>C;ENST00000497608:exon9:c.403-2A>C;ENST00000582336:exon10:c.485-2A>C)	.	.	0.99994568797423	0.94
18	20950228	G	A	18	23370264	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00707552312552911	0.082
18	20950228	G	C	18	23370264	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999788413270394	0.92
18	20950228	G	T	18	23370264	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.248981475493004	0.492
18	20950229	A	C	18	23370265	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.15064229233849E-4	0.002
18	20950229	A	G	18	23370265	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.82345204203643E-5	0.0
18	20950229	A	T	18	23370265	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.42059293619205E-5	0.0
18	20950230	A	C	18	23370266	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.944702881782151	0.62
18	20950230	A	G	18	23370266	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00635145334221266	0.036
18	20950230	A	T	18	23370266	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.883130974451082	0.614
18	20950231	A	C	18	23370267	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0752926185460879	0.274
18	20950231	A	G	18	23370267	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.9438522173425E-5	0.0
18	20950231	A	T	18	23370267	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0556551549388013	0.198
18	20950232	A	C	18	23370268	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999736639249011	0.97
18	20950232	A	G	18	23370268	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.75861175451699E-4	0.006
18	20950232	A	T	18	23370268	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.198093875745911	0.268
18	20950233	T	A	18	23370269	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.07560991835577E-5	0.0
18	20950233	T	C	18	23370269	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.20949023265572E-5	0.0
18	20950233	T	G	18	23370269	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.08562386273078E-4	0.008
18	20950234	G	A	18	23370270	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.26867640702278E-5	0.056
18	20950234	G	C	18	23370270	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00158081161333949	0.14
18	20950234	G	T	18	23370270	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.14136642745645E-4	0.066
18	20950235	A	C	18	23370271	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.572863024862943	0.532
18	20950235	A	G	18	23370271	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00157984793204021	0.048
18	20950235	A	T	18	23370271	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.79188588382793	0.548
18	20950236	A	C	18	23370272	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997825649819968	0.822
18	20950236	A	G	18	23370272	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.941030221334906	0.42
18	20950236	A	T	18	23370272	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996527553971475	0.872
18	20950237	A	C	18	23370273	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99631793867716	0.954
18	20950237	A	G	18	23370273	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.65304247133104E-5	0.0
18	20950237	A	T	18	23370273	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0103919968395426	0.172
18	20951378	A	C	18	23371414	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.15838005414123E-4	0.0
18	20951378	A	G	18	23371414	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.15838005414123E-4	0.0
18	20951378	A	T	18	23371414	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00167619353881082	0.002
18	20951379	A	C	18	23371415	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.46793407640872E-4	0.0
18	20951379	A	G	18	23371415	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.46793407640872E-4	0.002
18	20951379	A	T	18	23371415	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.39045884106547E-4	0.002
18	20951380	A	C	18	23371416	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.73182012360516	0.456
18	20951380	A	G	18	23371416	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.788759899326584	0.576
18	20951380	A	T	18	23371416	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.916971596364187	0.548
18	20951381	C	A	18	23371417	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999161300496269	0.798
18	20951381	C	G	18	23371417	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999482456977652	0.88
18	20951381	C	T	18	23371417	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99956804045855	0.906
18	20951382	T	A	18	23371418	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99916768336656	0.868
18	20951382	T	C	18	23371418	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998217526302773	0.884
18	20951382	T	G	18	23371418	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997234888854763	0.84
18	20951383	T	A	18	23371419	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997847049773351	0.912
18	20951383	T	C	18	23371419	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.174967140233219	0.33
18	20951383	T	G	18	23371419	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99747452412462	0.884
18	20951384	A	C	18	23371420	y	y	splicing	TMEM241(NM_032933:exon9:c.484+2T>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.121+2T>G;ENST00000581444:exon9:c.517+2T>G;ENST00000383233:exon9:c.484+2T>G;ENST00000542162:exon9:c.484+2T>G;ENST00000578520:exon9:c.484+2T>G;ENST00000497608:exon8:c.402+2T>G;ENST00000577531:exon9:c.485+2T>G;ENST00000582336:exon9:c.484+2T>G)	.	.	0.999988247793601	0.932
18	20951384	A	G	18	23371420	y	y	splicing	TMEM241(NM_032933:exon9:c.484+2T>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.121+2T>C;ENST00000581444:exon9:c.517+2T>C;ENST00000383233:exon9:c.484+2T>C;ENST00000542162:exon9:c.484+2T>C;ENST00000578520:exon9:c.484+2T>C;ENST00000497608:exon8:c.402+2T>C;ENST00000577531:exon9:c.485+2T>C;ENST00000582336:exon9:c.484+2T>C)	.	.	0.99340600729494	0.704
18	20951384	A	T	18	23371420	y	y	splicing	TMEM241(NM_032933:exon9:c.484+2T>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.121+2T>A;ENST00000581444:exon9:c.517+2T>A;ENST00000383233:exon9:c.484+2T>A;ENST00000542162:exon9:c.484+2T>A;ENST00000578520:exon9:c.484+2T>A;ENST00000497608:exon8:c.402+2T>A;ENST00000577531:exon9:c.485+2T>A;ENST00000582336:exon9:c.484+2T>A)	.	.	0.999988247793601	0.932
18	20951385	C	A	18	23371421	y	y	splicing	TMEM241(NM_032933:exon9:c.484+1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.121+1G>T;ENST00000581444:exon9:c.517+1G>T;ENST00000383233:exon9:c.484+1G>T;ENST00000542162:exon9:c.484+1G>T;ENST00000578520:exon9:c.484+1G>T;ENST00000497608:exon8:c.402+1G>T;ENST00000577531:exon9:c.485+1G>T;ENST00000582336:exon9:c.484+1G>T)	.	.	0.999990361384395	0.938
18	20951385	C	G	18	23371421	y	y	splicing	TMEM241(NM_032933:exon9:c.484+1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.121+1G>C;ENST00000581444:exon9:c.517+1G>C;ENST00000383233:exon9:c.484+1G>C;ENST00000542162:exon9:c.484+1G>C;ENST00000578520:exon9:c.484+1G>C;ENST00000497608:exon8:c.402+1G>C;ENST00000577531:exon9:c.485+1G>C;ENST00000582336:exon9:c.484+1G>C)	.	.	0.999990361384395	0.938
18	20951385	C	T	18	23371421	y	y	splicing	TMEM241(NM_032933:exon9:c.484+1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.121+1G>A;ENST00000581444:exon9:c.517+1G>A;ENST00000383233:exon9:c.484+1G>A;ENST00000542162:exon9:c.484+1G>A;ENST00000578520:exon9:c.484+1G>A;ENST00000497608:exon8:c.402+1G>A;ENST00000577531:exon9:c.485+1G>A;ENST00000582336:exon9:c.484+1G>A)	.	.	0.999990361384395	0.938
18	20951386	C	A	18	23371422	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.G484T:p.G162W;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.G484T:p.G162W;ENSG00000134490:ENST00000578520:exon8:c.G484T:p.G162C;ENSG00000134490:ENST00000582336:exon8:c.G484T:p.G162W;ENSG00000134490:ENST00000542162:exon8:c.G484T:p.V162L;ENSG00000134490:ENST00000450466:exon8:c.G121T:p.G41W;	0.99916997058862	0.926
18	20951386	C	G	18	23371422	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.G484C:p.G162R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.G484C:p.G162R;ENSG00000134490:ENST00000578520:exon8:c.G484C:p.G162R;ENSG00000134490:ENST00000582336:exon8:c.G484C:p.G162R;ENSG00000134490:ENST00000542162:exon8:c.G484C:p.V162L;ENSG00000134490:ENST00000450466:exon8:c.G121C:p.G41R;	0.999345361773098	0.906
18	20951386	C	T	18	23371422	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.G484A:p.G162R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.G484A:p.G162R;ENSG00000134490:ENST00000578520:exon8:c.G484A:p.G162S;ENSG00000134490:ENST00000582336:exon8:c.G484A:p.G162R;ENSG00000134490:ENST00000542162:exon8:c.G484A:p.V162M;ENSG00000134490:ENST00000450466:exon8:c.G121A:p.G41R;	0.999901248097235	0.934
18	20951387	T	A	18	23371423	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon8:c.A483T:p.V161V;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.A483T:p.V161V;ENSG00000134490:ENST00000578520:exon8:c.A483T:p.V161V;ENSG00000134490:ENST00000582336:exon8:c.A483T:p.V161V;ENSG00000134490:ENST00000542162:exon8:c.A483T:p.V161V;ENSG00000134490:ENST00000450466:exon8:c.A120T:p.V40V;	0.0645968123867888	0.452
18	20951387	T	C	18	23371423	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon8:c.A483G:p.V161V;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.A483G:p.V161V;ENSG00000134490:ENST00000578520:exon8:c.A483G:p.V161V;ENSG00000134490:ENST00000582336:exon8:c.A483G:p.V161V;ENSG00000134490:ENST00000542162:exon8:c.A483G:p.V161V;ENSG00000134490:ENST00000450466:exon8:c.A120G:p.V40V;	0.0668616523625304	0.4
18	20951387	T	G	18	23371423	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon8:c.A483C:p.V161V;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.A483C:p.V161V;ENSG00000134490:ENST00000578520:exon8:c.A483C:p.V161V;ENSG00000134490:ENST00000582336:exon8:c.A483C:p.V161V;ENSG00000134490:ENST00000542162:exon8:c.A483C:p.V161V;ENSG00000134490:ENST00000450466:exon8:c.A120C:p.V40V;	0.174237496066748	0.566
18	20951388	A	C	18	23371424	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T482G:p.V161G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T482G:p.V161G;ENSG00000134490:ENST00000578520:exon8:c.T482G:p.V161G;ENSG00000134490:ENST00000582336:exon8:c.T482G:p.V161G;ENSG00000134490:ENST00000542162:exon8:c.T482G:p.V161G;ENSG00000134490:ENST00000450466:exon8:c.T119G:p.V40G;	0.00596709609873188	0.02
18	20951388	A	G	18	23371424	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T482C:p.V161A;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T482C:p.V161A;ENSG00000134490:ENST00000578520:exon8:c.T482C:p.V161A;ENSG00000134490:ENST00000582336:exon8:c.T482C:p.V161A;ENSG00000134490:ENST00000542162:exon8:c.T482C:p.V161A;ENSG00000134490:ENST00000450466:exon8:c.T119C:p.V40A;	0.00330492822980407	0.07
18	20951388	A	T	18	23371424	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T482A:p.V161E;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T482A:p.V161E;ENSG00000134490:ENST00000578520:exon8:c.T482A:p.V161E;ENSG00000134490:ENST00000582336:exon8:c.T482A:p.V161E;ENSG00000134490:ENST00000542162:exon8:c.T482A:p.V161E;ENSG00000134490:ENST00000450466:exon8:c.T119A:p.V40E;	0.00330492822980407	0.074
18	20951433	A	C	18	23371469	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T437G:p.F146C;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T437G:p.F146C;ENSG00000134490:ENST00000578520:exon8:c.T437G:p.F146C;ENSG00000134490:ENST00000582336:exon8:c.T437G:p.F146C;ENSG00000134490:ENST00000542162:exon8:c.T437G:p.F146C;ENSG00000134490:ENST00000450466:exon8:c.T74G:p.F25C;	0.00342373284590075	0.05
18	20951433	A	G	18	23371469	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T437C:p.F146S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T437C:p.F146S;ENSG00000134490:ENST00000578520:exon8:c.T437C:p.F146S;ENSG00000134490:ENST00000582336:exon8:c.T437C:p.F146S;ENSG00000134490:ENST00000542162:exon8:c.T437C:p.F146S;ENSG00000134490:ENST00000450466:exon8:c.T74C:p.F25S;	0.00357350426409157	0.062
18	20951433	A	T	18	23371469	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T437A:p.F146Y;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T437A:p.F146Y;ENSG00000134490:ENST00000578520:exon8:c.T437A:p.F146Y;ENSG00000134490:ENST00000582336:exon8:c.T437A:p.F146Y;ENSG00000134490:ENST00000542162:exon8:c.T437A:p.F146Y;ENSG00000134490:ENST00000450466:exon8:c.T74A:p.F25Y;	0.0136646783355031	0.084
18	20951434	A	C	18	23371470	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T436G:p.F146V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T436G:p.F146V;ENSG00000134490:ENST00000578520:exon8:c.T436G:p.F146V;ENSG00000134490:ENST00000582336:exon8:c.T436G:p.F146V;ENSG00000134490:ENST00000542162:exon8:c.T436G:p.F146V;ENSG00000134490:ENST00000450466:exon8:c.T73G:p.F25V;	0.00233051833702019	0.042
18	20951434	A	G	18	23371470	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T436C:p.F146L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T436C:p.F146L;ENSG00000134490:ENST00000578520:exon8:c.T436C:p.F146L;ENSG00000134490:ENST00000582336:exon8:c.T436C:p.F146L;ENSG00000134490:ENST00000542162:exon8:c.T436C:p.F146L;ENSG00000134490:ENST00000450466:exon8:c.T73C:p.F25L;	0.00712179829039808	0.046
18	20951434	A	T	18	23371470	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon8:c.T436A:p.F146I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon8:c.T436A:p.F146I;ENSG00000134490:ENST00000578520:exon8:c.T436A:p.F146I;ENSG00000134490:ENST00000582336:exon8:c.T436A:p.F146I;ENSG00000134490:ENST00000542162:exon8:c.T436A:p.F146I;ENSG00000134490:ENST00000450466:exon8:c.T73A:p.F25I;	0.00121944008060627	0.014
18	20951435	C	A	18	23371471	y	y	splicing	TMEM241(NM_032933:exon9:c.436-1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.73-1G>T;ENST00000581444:exon9:c.469-1G>T;ENST00000383233:exon9:c.436-1G>T;ENST00000542162:exon9:c.436-1G>T;ENST00000578520:exon9:c.436-1G>T;ENST00000497608:exon8:c.354-1G>T;ENST00000577531:exon9:c.437-1G>T;ENST00000582336:exon9:c.436-1G>T;ENST00000580025:exon9:c.469-1G>T)	.	.	0.99995545544995	0.944
18	20951435	C	G	18	23371471	y	y	splicing	TMEM241(NM_032933:exon9:c.436-1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.73-1G>C;ENST00000581444:exon9:c.469-1G>C;ENST00000383233:exon9:c.436-1G>C;ENST00000542162:exon9:c.436-1G>C;ENST00000578520:exon9:c.436-1G>C;ENST00000497608:exon8:c.354-1G>C;ENST00000577531:exon9:c.437-1G>C;ENST00000582336:exon9:c.436-1G>C;ENST00000580025:exon9:c.469-1G>C)	.	.	0.99995545544995	0.946
18	20951435	C	T	18	23371471	y	y	splicing	TMEM241(NM_032933:exon9:c.436-1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.73-1G>A;ENST00000581444:exon9:c.469-1G>A;ENST00000383233:exon9:c.436-1G>A;ENST00000542162:exon9:c.436-1G>A;ENST00000578520:exon9:c.436-1G>A;ENST00000497608:exon8:c.354-1G>A;ENST00000577531:exon9:c.437-1G>A;ENST00000582336:exon9:c.436-1G>A;ENST00000580025:exon9:c.469-1G>A)	.	.	0.99995545544995	0.94
18	20951436	T	A	18	23371472	y	y	splicing	TMEM241(NM_032933:exon9:c.436-2A>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.73-2A>T;ENST00000581444:exon9:c.469-2A>T;ENST00000383233:exon9:c.436-2A>T;ENST00000542162:exon9:c.436-2A>T;ENST00000578520:exon9:c.436-2A>T;ENST00000497608:exon8:c.354-2A>T;ENST00000577531:exon9:c.437-2A>T;ENST00000582336:exon9:c.436-2A>T;ENST00000580025:exon9:c.469-2A>T)	.	.	0.999946188727699	0.946
18	20951436	T	C	18	23371472	y	y	splicing	TMEM241(NM_032933:exon9:c.436-2A>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.73-2A>G;ENST00000581444:exon9:c.469-2A>G;ENST00000383233:exon9:c.436-2A>G;ENST00000542162:exon9:c.436-2A>G;ENST00000578520:exon9:c.436-2A>G;ENST00000497608:exon8:c.354-2A>G;ENST00000577531:exon9:c.437-2A>G;ENST00000582336:exon9:c.436-2A>G;ENST00000580025:exon9:c.469-2A>G)	.	.	0.999946188727699	0.94
18	20951436	T	G	18	23371472	y	y	splicing	TMEM241(NM_032933:exon9:c.436-2A>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon9:c.73-2A>C;ENST00000581444:exon9:c.469-2A>C;ENST00000383233:exon9:c.436-2A>C;ENST00000542162:exon9:c.436-2A>C;ENST00000578520:exon9:c.436-2A>C;ENST00000497608:exon8:c.354-2A>C;ENST00000577531:exon9:c.437-2A>C;ENST00000582336:exon9:c.436-2A>C;ENST00000580025:exon9:c.469-2A>C)	.	.	0.999946188727699	0.94
18	20951437	G	A	18	23371473	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.07905885524281E-4	0.006
18	20951437	G	C	18	23371473	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998925621528555	0.926
18	20951437	G	T	18	23371473	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.207712404844005	0.554
18	20951438	A	C	18	23371474	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.29687048170395E-4	0.106
18	20951438	A	G	18	23371474	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.10757726921931E-5	0.052
18	20951438	A	T	18	23371474	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.49279673518079E-5	0.062
18	20951439	A	C	18	23371475	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.748163716725531	0.508
18	20951439	A	G	18	23371475	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0150111133190217	0.158
18	20951439	A	T	18	23371475	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.792068299111273	0.522
18	20951440	A	C	18	23371476	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.834018250345922	0.576
18	20951440	A	G	18	23371476	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00287468666371292	0.104
18	20951440	A	T	18	23371476	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.834018250345922	0.558
18	20951441	C	A	18	23371477	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.08968436393553E-5	0.0
18	20951441	C	G	18	23371477	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.08968436393553E-5	0.002
18	20951441	C	T	18	23371477	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.5896247217578E-5	0.004
18	20951442	A	C	18	23371478	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.149383240187553	0.426
18	20951442	A	G	18	23371478	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00176371921988443	0.052
18	20951442	A	T	18	23371478	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999911464039707	0.98
18	20951443	C	A	18	23371479	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.14938634280791E-4	0.02
18	20951443	C	G	18	23371479	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.43754921855304E-5	0.004
18	20951443	C	T	18	23371479	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.89449092424272E-4	0.03
18	20951444	A	C	18	23371480	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.65674192352694	0.524
18	20951444	A	G	18	23371480	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00204250951747556	0.064
18	20951444	A	T	18	23371480	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999918658473501	0.978
18	20951445	A	C	18	23371481	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0666280566300684	0.36
18	20951445	A	G	18	23371481	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.76678194510912E-4	0.02
18	20951445	A	T	18	23371481	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.131807103367319	0.336
18	20951446	A	C	18	23371482	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00758399814941977	0.222
18	20951446	A	G	18	23371482	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.82668362233715E-4	0.006
18	20951446	A	T	18	23371482	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0361506776937646	0.23
18	20953668	G	A	18	23373704	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.94052710230314E-4	0.03
18	20953668	G	C	18	23373704	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.7195328793979E-4	0.066
18	20953668	G	T	18	23373704	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.94052710230314E-4	0.028
18	20953669	G	A	18	23373705	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.52840146349605E-4	0.012
18	20953669	G	C	18	23373705	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.68969798146905E-4	0.004
18	20953669	G	T	18	23373705	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.68969798146905E-4	0.004
18	20953670	A	C	18	23373706	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.79649401265626E-4	0.11
18	20953670	A	G	18	23373706	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.011471082703152	0.164
18	20953670	A	T	18	23373706	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0125135602242942	0.178
18	20953671	C	A	18	23373707	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.384993786944094	0.462
18	20953671	C	G	18	23373707	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.20956089008307	0.41
18	20953671	C	T	18	23373707	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.347517776891249	0.448
18	20953672	T	A	18	23373708	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0598115414905561	0.21
18	20953672	T	C	18	23373708	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0171854697809382	0.202
18	20953672	T	G	18	23373708	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0313341958910344	0.204
18	20953673	T	A	18	23373709	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0760592627650589	0.38
18	20953673	T	C	18	23373709	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.77647883422077E-4	0.052
18	20953673	T	G	18	23373709	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.126208444639809	0.354
18	20953674	A	C	18	23373710	y	y	splicing	TMEM241(NM_032933:exon8:c.435+2T>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.72+2T>G;ENST00000581444:exon8:c.468+2T>G;ENST00000473688:exon8:c.435+2T>G;ENST00000477053:exon8:c.472+2T>G;ENST00000383233:exon8:c.435+2T>G;ENST00000460322:exon6:c.275+2T>G;ENST00000542162:exon8:c.435+2T>G;ENST00000578520:exon8:c.435+2T>G;ENST00000482411:exon7:c.388+2T>G;ENST00000497608:exon7:c.353+2T>G;ENST00000577531:exon8:c.436+2T>G;ENST00000582336:exon8:c.435+2T>G;ENST00000580025:exon8:c.468+2T>G)	.	.	0.999988247793601	0.932
18	20953674	A	G	18	23373710	y	y	splicing	TMEM241(NM_032933:exon8:c.435+2T>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.72+2T>C;ENST00000581444:exon8:c.468+2T>C;ENST00000473688:exon8:c.435+2T>C;ENST00000477053:exon8:c.472+2T>C;ENST00000383233:exon8:c.435+2T>C;ENST00000460322:exon6:c.275+2T>C;ENST00000542162:exon8:c.435+2T>C;ENST00000578520:exon8:c.435+2T>C;ENST00000482411:exon7:c.388+2T>C;ENST00000497608:exon7:c.353+2T>C;ENST00000577531:exon8:c.436+2T>C;ENST00000582336:exon8:c.435+2T>C;ENST00000580025:exon8:c.468+2T>C)	.	.	0.996046924575706	0.718
18	20953674	A	T	18	23373710	y	y	splicing	TMEM241(NM_032933:exon8:c.435+2T>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.72+2T>A;ENST00000581444:exon8:c.468+2T>A;ENST00000473688:exon8:c.435+2T>A;ENST00000477053:exon8:c.472+2T>A;ENST00000383233:exon8:c.435+2T>A;ENST00000460322:exon6:c.275+2T>A;ENST00000542162:exon8:c.435+2T>A;ENST00000578520:exon8:c.435+2T>A;ENST00000482411:exon7:c.388+2T>A;ENST00000497608:exon7:c.353+2T>A;ENST00000577531:exon8:c.436+2T>A;ENST00000582336:exon8:c.435+2T>A;ENST00000580025:exon8:c.468+2T>A)	.	.	0.999988247793601	0.932
18	20953675	C	A	18	23373711	y	y	splicing	TMEM241(NM_032933:exon8:c.435+1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.72+1G>T;ENST00000581444:exon8:c.468+1G>T;ENST00000473688:exon8:c.435+1G>T;ENST00000477053:exon8:c.472+1G>T;ENST00000383233:exon8:c.435+1G>T;ENST00000460322:exon6:c.275+1G>T;ENST00000542162:exon8:c.435+1G>T;ENST00000578520:exon8:c.435+1G>T;ENST00000482411:exon7:c.388+1G>T;ENST00000497608:exon7:c.353+1G>T;ENST00000577531:exon8:c.436+1G>T;ENST00000582336:exon8:c.435+1G>T;ENST00000580025:exon8:c.468+1G>T)	.	.	0.999990361384395	0.938
18	20953675	C	G	18	23373711	y	y	splicing	TMEM241(NM_032933:exon8:c.435+1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.72+1G>C;ENST00000581444:exon8:c.468+1G>C;ENST00000473688:exon8:c.435+1G>C;ENST00000477053:exon8:c.472+1G>C;ENST00000383233:exon8:c.435+1G>C;ENST00000460322:exon6:c.275+1G>C;ENST00000542162:exon8:c.435+1G>C;ENST00000578520:exon8:c.435+1G>C;ENST00000482411:exon7:c.388+1G>C;ENST00000497608:exon7:c.353+1G>C;ENST00000577531:exon8:c.436+1G>C;ENST00000582336:exon8:c.435+1G>C;ENST00000580025:exon8:c.468+1G>C)	.	.	0.999990361384395	0.938
18	20953675	C	T	18	23373711	y	y	splicing	TMEM241(NM_032933:exon8:c.435+1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.72+1G>A;ENST00000581444:exon8:c.468+1G>A;ENST00000473688:exon8:c.435+1G>A;ENST00000477053:exon8:c.472+1G>A;ENST00000383233:exon8:c.435+1G>A;ENST00000460322:exon6:c.275+1G>A;ENST00000542162:exon8:c.435+1G>A;ENST00000578520:exon8:c.435+1G>A;ENST00000482411:exon7:c.388+1G>A;ENST00000497608:exon7:c.353+1G>A;ENST00000577531:exon8:c.436+1G>A;ENST00000582336:exon8:c.435+1G>A;ENST00000580025:exon8:c.468+1G>A)	.	.	0.999990361384395	0.938
18	20953676	C	A	18	23373712	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.G435T:p.Q145H;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.G435T:p.Q145H;ENSG00000134490:ENST00000578520:exon7:c.G435T:p.Q145H;ENSG00000134490:ENST00000582336:exon7:c.G435T:p.Q145H;ENSG00000134490:ENST00000542162:exon7:c.G435T:p.Q145H;ENSG00000134490:ENST00000473688:exon7:c.G435T:p.Q145H;ENSG00000134490:ENST00000450466:exon7:c.G72T:p.Q24H;	0.963074406163966	0.576
18	20953676	C	G	18	23373712	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.G435C:p.Q145H;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.G435C:p.Q145H;ENSG00000134490:ENST00000578520:exon7:c.G435C:p.Q145H;ENSG00000134490:ENST00000582336:exon7:c.G435C:p.Q145H;ENSG00000134490:ENST00000542162:exon7:c.G435C:p.Q145H;ENSG00000134490:ENST00000473688:exon7:c.G435C:p.Q145H;ENSG00000134490:ENST00000450466:exon7:c.G72C:p.Q24H;	0.962282424356623	0.5
18	20953676	C	T	18	23373712	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon7:c.G435A:p.Q145Q;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.G435A:p.Q145Q;ENSG00000134490:ENST00000578520:exon7:c.G435A:p.Q145Q;ENSG00000134490:ENST00000582336:exon7:c.G435A:p.Q145Q;ENSG00000134490:ENST00000542162:exon7:c.G435A:p.Q145Q;ENSG00000134490:ENST00000473688:exon7:c.G435A:p.Q145Q;ENSG00000134490:ENST00000450466:exon7:c.G72A:p.Q24Q;	0.999246199233972	0.862
18	20953677	T	A	18	23373713	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.A434T:p.Q145L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.A434T:p.Q145L;ENSG00000134490:ENST00000578520:exon7:c.A434T:p.Q145L;ENSG00000134490:ENST00000582336:exon7:c.A434T:p.Q145L;ENSG00000134490:ENST00000542162:exon7:c.A434T:p.Q145L;ENSG00000134490:ENST00000473688:exon7:c.A434T:p.Q145L;ENSG00000134490:ENST00000450466:exon7:c.A71T:p.Q24L;	0.954006385012402	0.612
18	20953677	T	C	18	23373713	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.A434G:p.Q145R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.A434G:p.Q145R;ENSG00000134490:ENST00000578520:exon7:c.A434G:p.Q145R;ENSG00000134490:ENST00000582336:exon7:c.A434G:p.Q145R;ENSG00000134490:ENST00000542162:exon7:c.A434G:p.Q145R;ENSG00000134490:ENST00000473688:exon7:c.A434G:p.Q145R;ENSG00000134490:ENST00000450466:exon7:c.A71G:p.Q24R;	0.948233751632037	0.7
18	20953677	T	G	18	23373713	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.A434C:p.Q145P;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.A434C:p.Q145P;ENSG00000134490:ENST00000578520:exon7:c.A434C:p.Q145P;ENSG00000134490:ENST00000582336:exon7:c.A434C:p.Q145P;ENSG00000134490:ENST00000542162:exon7:c.A434C:p.Q145P;ENSG00000134490:ENST00000473688:exon7:c.A434C:p.Q145P;ENSG00000134490:ENST00000450466:exon7:c.A71C:p.Q24P;	0.839937242804886	0.59
18	20953678	G	A	18	23373714	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon7:c.C433T:p.Q145X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon7:c.C433T:p.Q145X;ENSG00000134490:ENST00000578520:exon7:c.C433T:p.Q145X;ENSG00000134490:ENST00000582336:exon7:c.C433T:p.Q145X;ENSG00000134490:ENST00000542162:exon7:c.C433T:p.Q145X;ENSG00000134490:ENST00000473688:exon7:c.C433T:p.Q145X;ENSG00000134490:ENST00000450466:exon7:c.C70T:p.Q24X;	0.99875882519429	0.736
18	20953678	G	C	18	23373714	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.C433G:p.Q145E;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.C433G:p.Q145E;ENSG00000134490:ENST00000578520:exon7:c.C433G:p.Q145E;ENSG00000134490:ENST00000582336:exon7:c.C433G:p.Q145E;ENSG00000134490:ENST00000542162:exon7:c.C433G:p.Q145E;ENSG00000134490:ENST00000473688:exon7:c.C433G:p.Q145E;ENSG00000134490:ENST00000450466:exon7:c.C70G:p.Q24E;	0.681493421811535	0.586
18	20953678	G	T	18	23373714	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.C433A:p.Q145K;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.C433A:p.Q145K;ENSG00000134490:ENST00000578520:exon7:c.C433A:p.Q145K;ENSG00000134490:ENST00000582336:exon7:c.C433A:p.Q145K;ENSG00000134490:ENST00000542162:exon7:c.C433A:p.Q145K;ENSG00000134490:ENST00000473688:exon7:c.C433A:p.Q145K;ENSG00000134490:ENST00000450466:exon7:c.C70A:p.Q24K;	0.964349978484411	0.744
18	20953726	C	A	18	23373762	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.G385T:p.A129S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.G385T:p.A129S;ENSG00000134490:ENST00000578520:exon7:c.G385T:p.A129S;ENSG00000134490:ENST00000582336:exon7:c.G385T:p.A129S;ENSG00000134490:ENST00000542162:exon7:c.G385T:p.A129S;ENSG00000134490:ENST00000473688:exon7:c.G385T:p.A129S;ENSG00000134490:ENST00000450466:exon7:c.G22T:p.A8S;	2.9659394659638E-4	0.004
18	20953726	C	G	18	23373762	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.G385C:p.A129P;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.G385C:p.A129P;ENSG00000134490:ENST00000578520:exon7:c.G385C:p.A129P;ENSG00000134490:ENST00000582336:exon7:c.G385C:p.A129P;ENSG00000134490:ENST00000542162:exon7:c.G385C:p.A129P;ENSG00000134490:ENST00000473688:exon7:c.G385C:p.A129P;ENSG00000134490:ENST00000450466:exon7:c.G22C:p.A8P;	2.97056017533151E-4	0.002
18	20953726	C	T	18	23373762	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.G385A:p.A129T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.G385A:p.A129T;ENSG00000134490:ENST00000578520:exon7:c.G385A:p.A129T;ENSG00000134490:ENST00000582336:exon7:c.G385A:p.A129T;ENSG00000134490:ENST00000542162:exon7:c.G385A:p.A129T;ENSG00000134490:ENST00000473688:exon7:c.G385A:p.A129T;ENSG00000134490:ENST00000450466:exon7:c.G22A:p.A8T;	5.81963225169742E-4	0.016
18	20953727	A	C	18	23373763	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.T384G:p.S128R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.T384G:p.S128R;ENSG00000134490:ENST00000578520:exon7:c.T384G:p.S128R;ENSG00000134490:ENST00000582336:exon7:c.T384G:p.S128R;ENSG00000134490:ENST00000542162:exon7:c.T384G:p.S128R;ENSG00000134490:ENST00000473688:exon7:c.T384G:p.S128R;ENSG00000134490:ENST00000450466:exon7:c.T21G:p.S7R;	1.50762294438532E-4	0.118
18	20953727	A	G	18	23373763	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon7:c.T384C:p.S128S;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.T384C:p.S128S;ENSG00000134490:ENST00000578520:exon7:c.T384C:p.S128S;ENSG00000134490:ENST00000582336:exon7:c.T384C:p.S128S;ENSG00000134490:ENST00000542162:exon7:c.T384C:p.S128S;ENSG00000134490:ENST00000473688:exon7:c.T384C:p.S128S;ENSG00000134490:ENST00000450466:exon7:c.T21C:p.S7S;	3.45892525444036E-5	0.014
18	20953727	A	T	18	23373763	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon7:c.T384A:p.S128R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon7:c.T384A:p.S128R;ENSG00000134490:ENST00000578520:exon7:c.T384A:p.S128R;ENSG00000134490:ENST00000582336:exon7:c.T384A:p.S128R;ENSG00000134490:ENST00000542162:exon7:c.T384A:p.S128R;ENSG00000134490:ENST00000473688:exon7:c.T384A:p.S128R;ENSG00000134490:ENST00000450466:exon7:c.T21A:p.S7R;	4.55434155615262E-5	0.006
18	20953728	C	A	18	23373764	y	y	splicing	TMEM241(NM_032933:exon8:c.384-1G>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.21-1G>T;ENST00000581444:exon8:c.417-1G>T;ENST00000473688:exon8:c.384-1G>T;ENST00000477053:exon8:c.421-1G>T;ENST00000383233:exon8:c.384-1G>T;ENST00000460322:exon6:c.224-1G>T;ENST00000542162:exon8:c.384-1G>T;ENST00000578520:exon8:c.384-1G>T;ENST00000482411:exon7:c.337-1G>T;ENST00000497608:exon7:c.302-1G>T;ENST00000577531:exon8:c.385-1G>T;ENST00000582336:exon8:c.384-1G>T;ENST00000580025:exon8:c.417-1G>T)	.	.	0.999990361384395	0.938
18	20953728	C	G	18	23373764	y	y	splicing	TMEM241(NM_032933:exon8:c.384-1G>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.21-1G>C;ENST00000581444:exon8:c.417-1G>C;ENST00000473688:exon8:c.384-1G>C;ENST00000477053:exon8:c.421-1G>C;ENST00000383233:exon8:c.384-1G>C;ENST00000460322:exon6:c.224-1G>C;ENST00000542162:exon8:c.384-1G>C;ENST00000578520:exon8:c.384-1G>C;ENST00000482411:exon7:c.337-1G>C;ENST00000497608:exon7:c.302-1G>C;ENST00000577531:exon8:c.385-1G>C;ENST00000582336:exon8:c.384-1G>C;ENST00000580025:exon8:c.417-1G>C)	.	.	0.999990361384395	0.938
18	20953728	C	T	18	23373764	y	y	splicing	TMEM241(NM_032933:exon8:c.384-1G>A)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.21-1G>A;ENST00000581444:exon8:c.417-1G>A;ENST00000473688:exon8:c.384-1G>A;ENST00000477053:exon8:c.421-1G>A;ENST00000383233:exon8:c.384-1G>A;ENST00000460322:exon6:c.224-1G>A;ENST00000542162:exon8:c.384-1G>A;ENST00000578520:exon8:c.384-1G>A;ENST00000482411:exon7:c.337-1G>A;ENST00000497608:exon7:c.302-1G>A;ENST00000577531:exon8:c.385-1G>A;ENST00000582336:exon8:c.384-1G>A;ENST00000580025:exon8:c.417-1G>A)	.	.	0.999990361384395	0.938
18	20953729	T	A	18	23373765	y	y	splicing	TMEM241(NM_032933:exon8:c.384-2A>T)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.21-2A>T;ENST00000581444:exon8:c.417-2A>T;ENST00000473688:exon8:c.384-2A>T;ENST00000477053:exon8:c.421-2A>T;ENST00000383233:exon8:c.384-2A>T;ENST00000460322:exon6:c.224-2A>T;ENST00000542162:exon8:c.384-2A>T;ENST00000578520:exon8:c.384-2A>T;ENST00000482411:exon7:c.337-2A>T;ENST00000497608:exon7:c.302-2A>T;ENST00000577531:exon8:c.385-2A>T;ENST00000582336:exon8:c.384-2A>T;ENST00000580025:exon8:c.417-2A>T)	.	.	0.999988247793601	0.93
18	20953729	T	C	18	23373765	y	y	splicing	TMEM241(NM_032933:exon8:c.384-2A>G)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.21-2A>G;ENST00000581444:exon8:c.417-2A>G;ENST00000473688:exon8:c.384-2A>G;ENST00000477053:exon8:c.421-2A>G;ENST00000383233:exon8:c.384-2A>G;ENST00000460322:exon6:c.224-2A>G;ENST00000542162:exon8:c.384-2A>G;ENST00000578520:exon8:c.384-2A>G;ENST00000482411:exon7:c.337-2A>G;ENST00000497608:exon7:c.302-2A>G;ENST00000577531:exon8:c.385-2A>G;ENST00000582336:exon8:c.384-2A>G;ENST00000580025:exon8:c.417-2A>G)	.	.	0.999988247793601	0.93
18	20953729	T	G	18	23373765	y	y	splicing	TMEM241(NM_032933:exon8:c.384-2A>C)	.	.	splicing	ENSG00000134490(ENST00000450466:exon8:c.21-2A>C;ENST00000581444:exon8:c.417-2A>C;ENST00000473688:exon8:c.384-2A>C;ENST00000477053:exon8:c.421-2A>C;ENST00000383233:exon8:c.384-2A>C;ENST00000460322:exon6:c.224-2A>C;ENST00000542162:exon8:c.384-2A>C;ENST00000578520:exon8:c.384-2A>C;ENST00000482411:exon7:c.337-2A>C;ENST00000497608:exon7:c.302-2A>C;ENST00000577531:exon8:c.385-2A>C;ENST00000582336:exon8:c.384-2A>C;ENST00000580025:exon8:c.417-2A>C)	.	.	0.999988247793601	0.93
18	20953730	G	A	18	23373766	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0750964614422288	0.192
18	20953730	G	C	18	23373766	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999937848611426	0.972
18	20953730	G	T	18	23373766	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.989133511471006	0.924
18	20953731	T	A	18	23373767	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.55128737352512E-4	0.018
18	20953731	T	C	18	23373767	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.49868750071061E-4	0.012
18	20953731	T	G	18	23373767	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.77255668526745E-5	0.006
18	20953732	G	A	18	23373768	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.52425802590947E-4	0.014
18	20953732	G	C	18	23373768	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00804907460125041	0.116
18	20953732	G	T	18	23373768	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00758938924201312	0.084
18	20953733	G	A	18	23373769	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.85684553073103E-4	0.014
18	20953733	G	C	18	23373769	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0139580723818293	0.182
18	20953733	G	T	18	23373769	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0180775613499065	0.166
18	20953734	A	C	18	23373770	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.441001409634953	0.446
18	20953734	A	G	18	23373770	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00897361611928996	0.208
18	20953734	A	T	18	23373770	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.769896716470662	0.54
18	20953735	G	A	18	23373771	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.58899968240484E-5	0.018
18	20953735	G	C	18	23373771	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00591133133319132	0.142
18	20953735	G	T	18	23373771	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0109952888924029	0.074
18	20953736	A	C	18	23373772	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.127142496523782	0.342
18	20953736	A	G	18	23373772	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00467666300460532	0.132
18	20953736	A	T	18	23373772	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.086097584974219	0.382
18	20953737	G	A	18	23373773	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00490959148205881	0.126
18	20953737	G	C	18	23373773	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0616354195521164	0.066
18	20953737	G	T	18	23373773	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0706458800125662	0.128
18	20953738	G	A	18	23373774	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0187126508004047	0.262
18	20953738	G	C	18	23373774	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0350831236579298	0.216
18	20953738	G	T	18	23373774	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0924106810724164	0.238
18	20953739	G	A	18	23373775	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00533771121284368	0.102
18	20953739	G	C	18	23373775	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0414662248080348	0.07
18	20953739	G	T	18	23373775	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.149970459972139	0.118
18	20956783	A	C	18	23376819	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.24975915077222E-5	0.0
18	20956783	A	G	18	23376819	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.1020973109669E-5	0.0
18	20956783	A	T	18	23376819	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.24975915077222E-5	0.0
18	20956784	G	A	18	23376820	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.58461283867531E-5	0.006
18	20956784	G	C	18	23376820	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.58461283867531E-5	0.006
18	20956784	G	T	18	23376820	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.58461283867531E-5	0.006
18	20956785	C	A	18	23376821	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.52932449848953E-5	0.002
18	20956785	C	G	18	23376821	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.52932449848953E-5	0.002
18	20956785	C	T	18	23376821	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.52932449848953E-5	0.002
18	20956786	A	C	18	23376822	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.31936226163609E-5	0.018
18	20956786	A	G	18	23376822	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.31936226163609E-5	0.018
18	20956786	A	T	18	23376822	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.31936226163609E-5	0.022
18	20956787	G	A	18	23376823	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.99839321085983E-5	0.014
18	20956787	G	C	18	23376823	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.68394055577575E-5	0.02
18	20956787	G	T	18	23376823	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.68394055577575E-5	0.068
18	20956788	T	A	18	23376824	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.50570520811733E-5	0.0
18	20956788	T	C	18	23376824	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.10250552304391E-5	0.0
18	20956788	T	G	18	23376824	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.10250552304391E-5	0.0
18	20956789	A	C	18	23376825	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000450466:exon7:c.20+2T>G;ENST00000581444:exon7:c.416+2T>G;ENST00000477053:exon7:c.420+2T>G;ENST00000580025:exon7:c.416+2T>G)	.	.	1.5857813890148E-4	0.002
18	20956789	A	G	18	23376825	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000450466:exon7:c.20+2T>C;ENST00000581444:exon7:c.416+2T>C;ENST00000477053:exon7:c.420+2T>C;ENST00000580025:exon7:c.416+2T>C)	.	.	1.5857813890148E-4	0.0
18	20956789	A	T	18	23376825	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000450466:exon7:c.20+2T>A;ENST00000581444:exon7:c.416+2T>A;ENST00000477053:exon7:c.420+2T>A;ENST00000580025:exon7:c.416+2T>A)	.	.	2.11773665242992E-4	0.002
18	20956790	C	A	18	23376826	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000450466:exon7:c.20+1G>T;ENST00000581444:exon7:c.416+1G>T;ENST00000477053:exon7:c.420+1G>T;ENST00000580025:exon7:c.416+1G>T)	.	.	5.04349982970396E-5	0.0
18	20956790	C	G	18	23376826	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000450466:exon7:c.20+1G>C;ENST00000581444:exon7:c.416+1G>C;ENST00000477053:exon7:c.420+1G>C;ENST00000580025:exon7:c.416+1G>C)	.	.	5.04349982970396E-5	0.0
18	20956790	C	T	18	23376826	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000450466:exon7:c.20+1G>A;ENST00000581444:exon7:c.416+1G>A;ENST00000477053:exon7:c.420+1G>A;ENST00000580025:exon7:c.416+1G>A)	.	.	8.55472960422104E-5	0.0
18	20956791	C	A	18	23376827	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.G20T:p.S7I;	0.0332034636429039	0.138
18	20956791	C	G	18	23376827	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.G20C:p.S7T;	0.00870650430444743	0.044
18	20956791	C	T	18	23376827	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.G20A:p.S7N;	0.0249681078020574	0.132
18	20956792	T	A	18	23376828	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.A19T:p.S7C;	6.61544712340902E-5	0.11
18	20956792	T	C	18	23376828	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.A19G:p.S7G;	1.14710279161112E-4	0.004
18	20956792	T	G	18	23376828	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.A19C:p.S7R;	1.01599285357161E-4	0.146
18	20956793	G	A	18	23376829	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.C18T:p.I6I;	7.18924664478357E-5	0.004
18	20956793	G	C	18	23376829	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.C18G:p.I6M;	9.42334554293701E-5	0.004
18	20956793	G	T	18	23376829	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000450466:exon6:c.C18A:p.I6I;	6.51383879749987E-5	0.004
18	20956904	A	C	18	23376940	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000399707:exon6:c.T307G:p.L103V;ENSG00000134490:ENST00000477053:exon6:c.T307G:p.L103V;	1.99153316237132E-5	0.0
18	20956904	A	G	18	23376940	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000399707:exon6:c.T307C:p.L103L;ENSG00000134490:ENST00000477053:exon6:c.T307C:p.L103L;	3.78205327723092E-5	0.004
18	20956904	A	T	18	23376940	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000399707:exon6:c.T307A:p.L103M;ENSG00000134490:ENST00000477053:exon6:c.T307A:p.L103M;	4.21133756078422E-5	0.0
18	20956905	C	A	18	23376941	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000399707:exon6:c.G306T:p.R102S;ENSG00000134490:ENST00000477053:exon6:c.G306T:p.R102S;	3.37920769650778E-5	0.0
18	20956905	C	G	18	23376941	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000399707:exon6:c.G306C:p.R102S;ENSG00000134490:ENST00000477053:exon6:c.G306C:p.R102S;	3.37920769650778E-5	0.0
18	20956905	C	T	18	23376941	n	y	intronic	TMEM241	.	.	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000399707:exon6:c.G306A:p.R102R;ENSG00000134490:ENST00000477053:exon6:c.G306A:p.R102R;	5.63208194819379E-5	0.004
18	20956906	C	A	18	23376942	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000581444:exon7:c.302-1G>T;ENST00000477053:exon7:c.306-1G>T;ENST00000580025:exon7:c.302-1G>T;ENST00000399707:exon7:c.306-1G>T)	.	.	5.31078313456842E-5	0.0
18	20956906	C	G	18	23376942	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000581444:exon7:c.302-1G>C;ENST00000477053:exon7:c.306-1G>C;ENST00000580025:exon7:c.302-1G>C;ENST00000399707:exon7:c.306-1G>C)	.	.	5.31078313456842E-5	0.0
18	20956906	C	T	18	23376942	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000581444:exon7:c.302-1G>A;ENST00000477053:exon7:c.306-1G>A;ENST00000580025:exon7:c.302-1G>A;ENST00000399707:exon7:c.306-1G>A)	.	.	5.31078313456842E-5	0.0
18	20956907	T	A	18	23376943	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000581444:exon7:c.302-2A>T;ENST00000477053:exon7:c.306-2A>T;ENST00000580025:exon7:c.302-2A>T;ENST00000399707:exon7:c.306-2A>T)	.	.	3.96653435898131E-5	0.0
18	20956907	T	C	18	23376943	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000581444:exon7:c.302-2A>G;ENST00000477053:exon7:c.306-2A>G;ENST00000580025:exon7:c.302-2A>G;ENST00000399707:exon7:c.306-2A>G)	.	.	8.70081261255395E-5	0.0
18	20956907	T	G	18	23376943	n	y	intronic	TMEM241	.	.	splicing	ENSG00000134490(ENST00000581444:exon7:c.302-2A>C;ENST00000477053:exon7:c.306-2A>C;ENST00000580025:exon7:c.302-2A>C;ENST00000399707:exon7:c.306-2A>C)	.	.	8.70081261255395E-5	0.0
18	20956908	G	A	18	23376944	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.07620641825897E-5	0.0
18	20956908	G	C	18	23376944	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.07620641825897E-5	0.0
18	20956908	G	T	18	23376944	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.07620641825897E-5	0.0
18	20956909	T	A	18	23376945	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.61003803027348E-5	0.03
18	20956909	T	C	18	23376945	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.61003803027348E-5	0.026
18	20956909	T	G	18	23376945	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.61003803027348E-5	0.026
18	20956910	A	C	18	23376946	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.13979659272119E-4	0.024
18	20956910	A	G	18	23376946	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.13979659272119E-4	0.024
18	20956910	A	T	18	23376946	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.13979659272119E-4	0.022
18	20956911	A	C	18	23376947	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.41069364790736E-5	0.01
18	20956911	A	G	18	23376947	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.41069364790736E-5	0.01
18	20956911	A	T	18	23376947	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.80274866394675E-5	0.0
18	20956912	T	A	18	23376948	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.8785843835862E-5	0.152
18	20956912	T	C	18	23376948	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.8785843835862E-5	0.154
18	20956912	T	G	18	23376948	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.8785843835862E-5	0.154
18	20956913	A	C	18	23376949	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.28655687538592E-4	0.062
18	20956913	A	G	18	23376949	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.28655687538592E-4	0.062
18	20956913	A	T	18	23376949	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.28655687538592E-4	0.064
18	20956914	A	C	18	23376950	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.10240256475234E-4	0.024
18	20956914	A	G	18	23376950	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.10240256475234E-4	0.024
18	20956914	A	T	18	23376950	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.10240256475234E-4	0.024
18	20956915	A	C	18	23376951	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.76066823600085E-5	0.064
18	20956915	A	G	18	23376951	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.76066823600085E-5	0.064
18	20956915	A	T	18	23376951	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.71676148109096E-5	0.064
18	20956916	G	A	18	23376952	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.57076726553018E-5	0.0
18	20956916	G	C	18	23376952	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.57076726553018E-5	0.0
18	20956916	G	T	18	23376952	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.57076726553018E-5	0.0
18	20956917	G	A	18	23376953	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.49702646665041E-5	0.004
18	20956917	G	C	18	23376953	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.49702646665041E-5	0.006
18	20956917	G	T	18	23376953	n	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.49702646665041E-5	0.004
18	20957602	A	C	18	23377638	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.21679684587463E-5	0.0
18	20957602	A	G	18	23377638	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.52873415590811E-5	0.0
18	20957602	A	T	18	23377638	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.52873415590811E-5	0.0
18	20957603	A	C	18	23377639	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00110339085949695	0.016
18	20957603	A	G	18	23377639	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00107808251425525	0.014
18	20957603	A	T	18	23377639	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00107808251425525	0.014
18	20957604	A	C	18	23377640	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00396874959579194	0.206
18	20957604	A	G	18	23377640	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.111684471529475	0.312
18	20957604	A	T	18	23377640	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0587607922253496	0.284
18	20957605	C	A	18	23377641	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.952887074104904	0.674
18	20957605	C	G	18	23377641	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.936675947378963	0.88
18	20957605	C	T	18	23377641	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.914686043346885	0.828
18	20957606	T	A	18	23377642	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.719134777879503	0.512
18	20957606	T	C	18	23377642	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.641087725024581	0.446
18	20957606	T	G	18	23377642	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.542986457579428	0.578
18	20957607	T	A	18	23377643	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.991996258417349	0.716
18	20957607	T	C	18	23377643	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.049907977989908	0.142
18	20957607	T	G	18	23377643	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.948964232377667	0.624
18	20957608	A	C	18	23377644	y	y	splicing	TMEM241(NM_032933:exon7:c.383+2T>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.301+2T>G;ENST00000473688:exon7:c.383+2T>G;ENST00000477053:exon6:c.305+2T>G;ENST00000383233:exon7:c.383+2T>G;ENST00000460322:exon5:c.223+2T>G;ENST00000542162:exon7:c.383+2T>G;ENST00000578520:exon7:c.383+2T>G;ENST00000482411:exon6:c.336+2T>G;ENST00000497608:exon6:c.301+2T>G;ENST00000577531:exon7:c.384+2T>G;ENST00000582336:exon7:c.383+2T>G;ENST00000580025:exon6:c.301+2T>G;ENST00000399707:exon6:c.305+2T>G)	.	.	0.99994568797423	0.938
18	20957608	A	G	18	23377644	y	y	splicing	TMEM241(NM_032933:exon7:c.383+2T>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.301+2T>C;ENST00000473688:exon7:c.383+2T>C;ENST00000477053:exon6:c.305+2T>C;ENST00000383233:exon7:c.383+2T>C;ENST00000460322:exon5:c.223+2T>C;ENST00000542162:exon7:c.383+2T>C;ENST00000578520:exon7:c.383+2T>C;ENST00000482411:exon6:c.336+2T>C;ENST00000497608:exon6:c.301+2T>C;ENST00000577531:exon7:c.384+2T>C;ENST00000582336:exon7:c.383+2T>C;ENST00000580025:exon6:c.301+2T>C;ENST00000399707:exon6:c.305+2T>C)	.	.	0.968433443304933	0.67
18	20957608	A	T	18	23377644	y	y	splicing	TMEM241(NM_032933:exon7:c.383+2T>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.301+2T>A;ENST00000473688:exon7:c.383+2T>A;ENST00000477053:exon6:c.305+2T>A;ENST00000383233:exon7:c.383+2T>A;ENST00000460322:exon5:c.223+2T>A;ENST00000542162:exon7:c.383+2T>A;ENST00000578520:exon7:c.383+2T>A;ENST00000482411:exon6:c.336+2T>A;ENST00000497608:exon6:c.301+2T>A;ENST00000577531:exon7:c.384+2T>A;ENST00000582336:exon7:c.383+2T>A;ENST00000580025:exon6:c.301+2T>A;ENST00000399707:exon6:c.305+2T>A)	.	.	0.99994568797423	0.928
18	20957609	C	A	18	23377645	y	y	splicing	TMEM241(NM_032933:exon7:c.383+1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.301+1G>T;ENST00000473688:exon7:c.383+1G>T;ENST00000477053:exon6:c.305+1G>T;ENST00000383233:exon7:c.383+1G>T;ENST00000460322:exon5:c.223+1G>T;ENST00000542162:exon7:c.383+1G>T;ENST00000578520:exon7:c.383+1G>T;ENST00000482411:exon6:c.336+1G>T;ENST00000497608:exon6:c.301+1G>T;ENST00000577531:exon7:c.384+1G>T;ENST00000582336:exon7:c.383+1G>T;ENST00000580025:exon6:c.301+1G>T;ENST00000399707:exon6:c.305+1G>T)	.	.	0.999938422912956	0.938
18	20957609	C	G	18	23377645	y	y	splicing	TMEM241(NM_032933:exon7:c.383+1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.301+1G>C;ENST00000473688:exon7:c.383+1G>C;ENST00000477053:exon6:c.305+1G>C;ENST00000383233:exon7:c.383+1G>C;ENST00000460322:exon5:c.223+1G>C;ENST00000542162:exon7:c.383+1G>C;ENST00000578520:exon7:c.383+1G>C;ENST00000482411:exon6:c.336+1G>C;ENST00000497608:exon6:c.301+1G>C;ENST00000577531:exon7:c.384+1G>C;ENST00000582336:exon7:c.383+1G>C;ENST00000580025:exon6:c.301+1G>C;ENST00000399707:exon6:c.305+1G>C)	.	.	0.999938422912956	0.942
18	20957609	C	T	18	23377645	y	y	splicing	TMEM241(NM_032933:exon7:c.383+1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.301+1G>A;ENST00000473688:exon7:c.383+1G>A;ENST00000477053:exon6:c.305+1G>A;ENST00000383233:exon7:c.383+1G>A;ENST00000460322:exon5:c.223+1G>A;ENST00000542162:exon7:c.383+1G>A;ENST00000578520:exon7:c.383+1G>A;ENST00000482411:exon6:c.336+1G>A;ENST00000497608:exon6:c.301+1G>A;ENST00000577531:exon7:c.384+1G>A;ENST00000582336:exon7:c.383+1G>A;ENST00000580025:exon6:c.301+1G>A;ENST00000399707:exon6:c.305+1G>A)	.	.	0.999938422912956	0.932
18	20957610	C	A	18	23377646	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.G383T:p.S128I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.G383T:p.S128I;ENSG00000134490:ENST00000578520:exon6:c.G383T:p.S128I;ENSG00000134490:ENST00000582336:exon6:c.G383T:p.S128I;ENSG00000134490:ENST00000542162:exon6:c.G383T:p.S128I;ENSG00000134490:ENST00000473688:exon6:c.G383T:p.S128I;ENSG00000134490:ENST00000399707:exon5:c.G305T:p.R102M;ENSG00000134490:ENST00000477053:exon5:c.G305T:p.R102M;	0.887684205775845	0.78
18	20957610	C	G	18	23377646	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.G383C:p.S128T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.G383C:p.S128T;ENSG00000134490:ENST00000578520:exon6:c.G383C:p.S128T;ENSG00000134490:ENST00000582336:exon6:c.G383C:p.S128T;ENSG00000134490:ENST00000542162:exon6:c.G383C:p.S128T;ENSG00000134490:ENST00000473688:exon6:c.G383C:p.S128T;ENSG00000134490:ENST00000399707:exon5:c.G305C:p.R102T;ENSG00000134490:ENST00000477053:exon5:c.G305C:p.R102T;	0.92480664696169	0.606
18	20957610	C	T	18	23377646	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.G383A:p.S128N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.G383A:p.S128N;ENSG00000134490:ENST00000578520:exon6:c.G383A:p.S128N;ENSG00000134490:ENST00000582336:exon6:c.G383A:p.S128N;ENSG00000134490:ENST00000542162:exon6:c.G383A:p.S128N;ENSG00000134490:ENST00000473688:exon6:c.G383A:p.S128N;ENSG00000134490:ENST00000399707:exon5:c.G305A:p.R102K;ENSG00000134490:ENST00000477053:exon5:c.G305A:p.R102K;	0.989608556776531	0.632
18	20957611	T	A	18	23377647	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.A382T:p.S128C;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.A382T:p.S128C;ENSG00000134490:ENST00000578520:exon6:c.A382T:p.S128C;ENSG00000134490:ENST00000582336:exon6:c.A382T:p.S128C;ENSG00000134490:ENST00000542162:exon6:c.A382T:p.S128C;ENSG00000134490:ENST00000473688:exon6:c.A382T:p.S128C;ENSG00000134490:ENST00000399707:exon5:c.A304T:p.R102W;ENSG00000134490:ENST00000477053:exon5:c.A304T:p.R102W;	0.111372323021312	0.402
18	20957611	T	C	18	23377647	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.A382G:p.S128G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.A382G:p.S128G;ENSG00000134490:ENST00000578520:exon6:c.A382G:p.S128G;ENSG00000134490:ENST00000582336:exon6:c.A382G:p.S128G;ENSG00000134490:ENST00000542162:exon6:c.A382G:p.S128G;ENSG00000134490:ENST00000473688:exon6:c.A382G:p.S128G;ENSG00000134490:ENST00000399707:exon5:c.A304G:p.R102G;ENSG00000134490:ENST00000477053:exon5:c.A304G:p.R102G;	0.124982588152277	0.378
18	20957611	T	G	18	23377647	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.A382C:p.S128R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.A382C:p.S128R;ENSG00000134490:ENST00000578520:exon6:c.A382C:p.S128R;ENSG00000134490:ENST00000582336:exon6:c.A382C:p.S128R;ENSG00000134490:ENST00000542162:exon6:c.A382C:p.S128R;ENSG00000134490:ENST00000473688:exon6:c.A382C:p.S128R;	0.167601906465112	0.472
18	20957612	A	C	18	23377648	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.T381G:p.C127W;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.T381G:p.C127W;ENSG00000134490:ENST00000578520:exon6:c.T381G:p.C127W;ENSG00000134490:ENST00000582336:exon6:c.T381G:p.C127W;ENSG00000134490:ENST00000542162:exon6:c.T381G:p.C127W;ENSG00000134490:ENST00000473688:exon6:c.T381G:p.C127W;ENSG00000134490:ENST00000399707:exon5:c.T303G:p.C101W;ENSG00000134490:ENST00000477053:exon5:c.T303G:p.C101W;	5.24702649640225E-5	0.018
18	20957612	A	G	18	23377648	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon6:c.T381C:p.C127C;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.T381C:p.C127C;ENSG00000134490:ENST00000578520:exon6:c.T381C:p.C127C;ENSG00000134490:ENST00000582336:exon6:c.T381C:p.C127C;ENSG00000134490:ENST00000542162:exon6:c.T381C:p.C127C;ENSG00000134490:ENST00000473688:exon6:c.T381C:p.C127C;ENSG00000134490:ENST00000399707:exon5:c.T303C:p.C101C;ENSG00000134490:ENST00000477053:exon5:c.T303C:p.C101C;	6.11022274724532E-5	0.0
18	20957612	A	T	18	23377648	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon6:c.T381A:p.C127X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon6:c.T381A:p.C127X;ENSG00000134490:ENST00000578520:exon6:c.T381A:p.C127X;ENSG00000134490:ENST00000582336:exon6:c.T381A:p.C127X;ENSG00000134490:ENST00000542162:exon6:c.T381A:p.C127X;ENSG00000134490:ENST00000473688:exon6:c.T381A:p.C127X;ENSG00000134490:ENST00000399707:exon5:c.T303A:p.C101X;ENSG00000134490:ENST00000477053:exon5:c.T303A:p.C101X;	8.36766379061335E-5	0.044
18	20957634	T	A	18	23377670	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.A359T:p.K120I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.A359T:p.K120I;ENSG00000134490:ENST00000578520:exon6:c.A359T:p.K120I;ENSG00000134490:ENST00000582336:exon6:c.A359T:p.K120I;ENSG00000134490:ENST00000542162:exon6:c.A359T:p.K120I;ENSG00000134490:ENST00000473688:exon6:c.A359T:p.K120I;ENSG00000134490:ENST00000399707:exon5:c.A281T:p.K94I;ENSG00000134490:ENST00000477053:exon5:c.A281T:p.K94I;	0.00111762260132284	0.018
18	20957634	T	C	18	23377670	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.A359G:p.K120R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.A359G:p.K120R;ENSG00000134490:ENST00000578520:exon6:c.A359G:p.K120R;ENSG00000134490:ENST00000582336:exon6:c.A359G:p.K120R;ENSG00000134490:ENST00000542162:exon6:c.A359G:p.K120R;ENSG00000134490:ENST00000473688:exon6:c.A359G:p.K120R;ENSG00000134490:ENST00000399707:exon5:c.A281G:p.K94R;ENSG00000134490:ENST00000477053:exon5:c.A281G:p.K94R;	6.53550042484094E-4	0.038
18	20957634	T	G	18	23377670	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.A359C:p.K120T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.A359C:p.K120T;ENSG00000134490:ENST00000578520:exon6:c.A359C:p.K120T;ENSG00000134490:ENST00000582336:exon6:c.A359C:p.K120T;ENSG00000134490:ENST00000542162:exon6:c.A359C:p.K120T;ENSG00000134490:ENST00000473688:exon6:c.A359C:p.K120T;ENSG00000134490:ENST00000399707:exon5:c.A281C:p.K94T;ENSG00000134490:ENST00000477053:exon5:c.A281C:p.K94T;	4.71379834163814E-4	0.022
18	20957635	T	A	18	23377671	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon6:c.A358T:p.K120X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon6:c.A358T:p.K120X;ENSG00000134490:ENST00000578520:exon6:c.A358T:p.K120X;ENSG00000134490:ENST00000582336:exon6:c.A358T:p.K120X;ENSG00000134490:ENST00000542162:exon6:c.A358T:p.K120X;ENSG00000134490:ENST00000473688:exon6:c.A358T:p.K120X;ENSG00000134490:ENST00000399707:exon5:c.A280T:p.K94X;ENSG00000134490:ENST00000477053:exon5:c.A280T:p.K94X;	0.0259681675635932	0.198
18	20957635	T	C	18	23377671	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.A358G:p.K120E;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.A358G:p.K120E;ENSG00000134490:ENST00000578520:exon6:c.A358G:p.K120E;ENSG00000134490:ENST00000582336:exon6:c.A358G:p.K120E;ENSG00000134490:ENST00000542162:exon6:c.A358G:p.K120E;ENSG00000134490:ENST00000473688:exon6:c.A358G:p.K120E;ENSG00000134490:ENST00000399707:exon5:c.A280G:p.K94E;ENSG00000134490:ENST00000477053:exon5:c.A280G:p.K94E;	6.3085449580622E-4	0.018
18	20957635	T	G	18	23377671	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon6:c.A358C:p.K120Q;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon6:c.A358C:p.K120Q;ENSG00000134490:ENST00000578520:exon6:c.A358C:p.K120Q;ENSG00000134490:ENST00000582336:exon6:c.A358C:p.K120Q;ENSG00000134490:ENST00000542162:exon6:c.A358C:p.K120Q;ENSG00000134490:ENST00000473688:exon6:c.A358C:p.K120Q;ENSG00000134490:ENST00000399707:exon5:c.A280C:p.K94Q;ENSG00000134490:ENST00000477053:exon5:c.A280C:p.K94Q;	0.00342341091119755	0.11
18	20957636	C	A	18	23377672	y	y	splicing	TMEM241(NM_032933:exon7:c.358-1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.276-1G>T;ENST00000473688:exon7:c.358-1G>T;ENST00000477053:exon6:c.280-1G>T;ENST00000383233:exon7:c.358-1G>T;ENST00000460322:exon5:c.198-1G>T;ENST00000542162:exon7:c.358-1G>T;ENST00000578520:exon7:c.358-1G>T;ENST00000482411:exon6:c.311-1G>T;ENST00000497608:exon6:c.276-1G>T;ENST00000577531:exon7:c.359-1G>T;ENST00000582336:exon7:c.358-1G>T;ENST00000580025:exon6:c.276-1G>T;ENST00000399707:exon6:c.280-1G>T)	.	.	0.999965143305126	0.886
18	20957636	C	G	18	23377672	y	y	splicing	TMEM241(NM_032933:exon7:c.358-1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.276-1G>C;ENST00000473688:exon7:c.358-1G>C;ENST00000477053:exon6:c.280-1G>C;ENST00000383233:exon7:c.358-1G>C;ENST00000460322:exon5:c.198-1G>C;ENST00000542162:exon7:c.358-1G>C;ENST00000578520:exon7:c.358-1G>C;ENST00000482411:exon6:c.311-1G>C;ENST00000497608:exon6:c.276-1G>C;ENST00000577531:exon7:c.359-1G>C;ENST00000582336:exon7:c.358-1G>C;ENST00000580025:exon6:c.276-1G>C;ENST00000399707:exon6:c.280-1G>C)	.	.	0.999965143305126	0.876
18	20957636	C	T	18	23377672	y	y	splicing	TMEM241(NM_032933:exon7:c.358-1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.276-1G>A;ENST00000473688:exon7:c.358-1G>A;ENST00000477053:exon6:c.280-1G>A;ENST00000383233:exon7:c.358-1G>A;ENST00000460322:exon5:c.198-1G>A;ENST00000542162:exon7:c.358-1G>A;ENST00000578520:exon7:c.358-1G>A;ENST00000482411:exon6:c.311-1G>A;ENST00000497608:exon6:c.276-1G>A;ENST00000577531:exon7:c.359-1G>A;ENST00000582336:exon7:c.358-1G>A;ENST00000580025:exon6:c.276-1G>A;ENST00000399707:exon6:c.280-1G>A)	.	.	0.999968430223941	0.874
18	20957637	T	A	18	23377673	y	y	splicing	TMEM241(NM_032933:exon7:c.358-2A>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.276-2A>T;ENST00000473688:exon7:c.358-2A>T;ENST00000477053:exon6:c.280-2A>T;ENST00000383233:exon7:c.358-2A>T;ENST00000460322:exon5:c.198-2A>T;ENST00000542162:exon7:c.358-2A>T;ENST00000578520:exon7:c.358-2A>T;ENST00000482411:exon6:c.311-2A>T;ENST00000497608:exon6:c.276-2A>T;ENST00000577531:exon7:c.359-2A>T;ENST00000582336:exon7:c.358-2A>T;ENST00000580025:exon6:c.276-2A>T;ENST00000399707:exon6:c.280-2A>T)	.	.	0.999972155025474	0.868
18	20957637	T	C	18	23377673	y	y	splicing	TMEM241(NM_032933:exon7:c.358-2A>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.276-2A>G;ENST00000473688:exon7:c.358-2A>G;ENST00000477053:exon6:c.280-2A>G;ENST00000383233:exon7:c.358-2A>G;ENST00000460322:exon5:c.198-2A>G;ENST00000542162:exon7:c.358-2A>G;ENST00000578520:exon7:c.358-2A>G;ENST00000482411:exon6:c.311-2A>G;ENST00000497608:exon6:c.276-2A>G;ENST00000577531:exon7:c.359-2A>G;ENST00000582336:exon7:c.358-2A>G;ENST00000580025:exon6:c.276-2A>G;ENST00000399707:exon6:c.280-2A>G)	.	.	0.999969255906173	0.852
18	20957637	T	G	18	23377673	y	y	splicing	TMEM241(NM_032933:exon7:c.358-2A>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon6:c.276-2A>C;ENST00000473688:exon7:c.358-2A>C;ENST00000477053:exon6:c.280-2A>C;ENST00000383233:exon7:c.358-2A>C;ENST00000460322:exon5:c.198-2A>C;ENST00000542162:exon7:c.358-2A>C;ENST00000578520:exon7:c.358-2A>C;ENST00000482411:exon6:c.311-2A>C;ENST00000497608:exon6:c.276-2A>C;ENST00000577531:exon7:c.359-2A>C;ENST00000582336:exon7:c.358-2A>C;ENST00000580025:exon6:c.276-2A>C;ENST00000399707:exon6:c.280-2A>C)	.	.	0.999969255906173	0.86
18	20957638	G	A	18	23377674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00390927870569022	0.16
18	20957638	G	C	18	23377674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999710217145076	0.938
18	20957638	G	T	18	23377674	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.95874923048377	0.714
18	20957639	C	A	18	23377675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.53929084429736E-6	0.0
18	20957639	C	G	18	23377675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.59904960534637E-6	0.002
18	20957639	C	T	18	23377675	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.31821442180173E-5	0.004
18	20957640	A	C	18	23377676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999916231497777	0.946
18	20957640	A	G	18	23377676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.39900428928668E-4	0.022
18	20957640	A	T	18	23377676	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.994376546205042	0.826
18	20957641	T	A	18	23377677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.32158785956097E-4	0.014
18	20957641	T	C	18	23377677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.29581952502623E-4	0.038
18	20957641	T	G	18	23377677	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.6168190940844E-4	0.028
18	20957642	A	C	18	23377678	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00122050800209397	0.036
18	20957642	A	G	18	23377678	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.11696286495492E-5	0.008
18	20957642	A	T	18	23377678	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00474300442024223	0.068
18	20957643	A	C	18	23377679	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00108880958178328	0.196
18	20957643	A	G	18	23377679	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.00206672646618E-5	0.002
18	20957643	A	T	18	23377679	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.081905250464093	0.22
18	20957644	A	C	18	23377680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.175647003265735	0.448
18	20957644	A	G	18	23377680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.3905291989018E-4	0.046
18	20957644	A	T	18	23377680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.334773021154593	0.446
18	20957645	A	C	18	23377681	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00596017362460596	0.29
18	20957645	A	G	18	23377681	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.44445593700775E-5	0.048
18	20957645	A	T	18	23377681	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.169745345980659	0.37
18	20957646	G	A	18	23377682	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.57691420623645E-5	0.004
18	20957646	G	C	18	23377682	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.901241969765465	0.832
18	20957646	G	T	18	23377682	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.08190470813157E-5	0.0
18	20957647	T	A	18	23377683	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.72242978126887E-5	0.002
18	20957647	T	C	18	23377683	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.59389868562639E-5	0.014
18	20957647	T	G	18	23377683	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.16079385940103E-5	0.0
18	20964946	T	A	18	23384982	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00130439627986319	0.046
18	20964946	T	C	18	23384982	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00232436157734836	0.01
18	20964946	T	G	18	23384982	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.97793698778707E-4	0.008
18	20964947	C	A	18	23384983	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00128742450497638	0.1
18	20964947	C	G	18	23384983	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00418940207899619	0.004
18	20964947	C	T	18	23384983	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00619560174395619	0.006
18	20964948	G	A	18	23384984	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.91098066427257E-5	0.0
18	20964948	G	C	18	23384984	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.15386571374989E-5	0.008
18	20964948	G	T	18	23384984	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.58943994418852E-4	0.014
18	20964949	T	A	18	23384985	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.99949743096628E-4	0.032
18	20964949	T	C	18	23384985	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00108256905625423	0.12
18	20964949	T	G	18	23384985	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.2784630402166E-4	0.028
18	20964950	T	A	18	23384986	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.972824053907911	0.684
18	20964950	T	C	18	23384986	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.963122545968407	0.69
18	20964950	T	G	18	23384986	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.919938158872314	0.636
18	20964951	T	A	18	23384987	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999969718942055	0.976
18	20964951	T	C	18	23384987	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.9993106057889	0.964
18	20964951	T	G	18	23384987	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999968662688414	0.916
18	20964952	A	C	18	23384988	y	y	splicing	TMEM241(NM_032933:exon6:c.357+2T>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.275+2T>G;ENST00000473688:exon6:c.357+2T>G;ENST00000477053:exon5:c.279+2T>G;ENST00000383233:exon6:c.357+2T>G;ENST00000460322:exon4:c.197+2T>G;ENST00000542162:exon6:c.357+2T>G;ENST00000578520:exon6:c.357+2T>G;ENST00000482411:exon5:c.310+2T>G;ENST00000497608:exon5:c.275+2T>G;ENST00000577531:exon6:c.358+2T>G;ENST00000582336:exon6:c.357+2T>G;ENST00000580025:exon5:c.275+2T>G;ENST00000399707:exon5:c.279+2T>G)	.	.	0.999993519952936	0.926
18	20964952	A	G	18	23384988	y	y	splicing	TMEM241(NM_032933:exon6:c.357+2T>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.275+2T>C;ENST00000473688:exon6:c.357+2T>C;ENST00000477053:exon5:c.279+2T>C;ENST00000383233:exon6:c.357+2T>C;ENST00000460322:exon4:c.197+2T>C;ENST00000542162:exon6:c.357+2T>C;ENST00000578520:exon6:c.357+2T>C;ENST00000482411:exon5:c.310+2T>C;ENST00000497608:exon5:c.275+2T>C;ENST00000577531:exon6:c.358+2T>C;ENST00000582336:exon6:c.357+2T>C;ENST00000580025:exon5:c.275+2T>C;ENST00000399707:exon5:c.279+2T>C)	.	.	0.989490785358834	0.59
18	20964952	A	T	18	23384988	y	y	splicing	TMEM241(NM_032933:exon6:c.357+2T>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.275+2T>A;ENST00000473688:exon6:c.357+2T>A;ENST00000477053:exon5:c.279+2T>A;ENST00000383233:exon6:c.357+2T>A;ENST00000460322:exon4:c.197+2T>A;ENST00000542162:exon6:c.357+2T>A;ENST00000578520:exon6:c.357+2T>A;ENST00000482411:exon5:c.310+2T>A;ENST00000497608:exon5:c.275+2T>A;ENST00000577531:exon6:c.358+2T>A;ENST00000582336:exon6:c.357+2T>A;ENST00000580025:exon5:c.275+2T>A;ENST00000399707:exon5:c.279+2T>A)	.	.	0.999993519952936	0.926
18	20964953	C	A	18	23384989	y	y	splicing	TMEM241(NM_032933:exon6:c.357+1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.275+1G>T;ENST00000473688:exon6:c.357+1G>T;ENST00000477053:exon5:c.279+1G>T;ENST00000383233:exon6:c.357+1G>T;ENST00000460322:exon4:c.197+1G>T;ENST00000542162:exon6:c.357+1G>T;ENST00000578520:exon6:c.357+1G>T;ENST00000482411:exon5:c.310+1G>T;ENST00000497608:exon5:c.275+1G>T;ENST00000577531:exon6:c.358+1G>T;ENST00000582336:exon6:c.357+1G>T;ENST00000580025:exon5:c.275+1G>T;ENST00000399707:exon5:c.279+1G>T)	.	.	0.999988247793601	0.924
18	20964953	C	G	18	23384989	y	y	splicing	TMEM241(NM_032933:exon6:c.357+1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.275+1G>C;ENST00000473688:exon6:c.357+1G>C;ENST00000477053:exon5:c.279+1G>C;ENST00000383233:exon6:c.357+1G>C;ENST00000460322:exon4:c.197+1G>C;ENST00000542162:exon6:c.357+1G>C;ENST00000578520:exon6:c.357+1G>C;ENST00000482411:exon5:c.310+1G>C;ENST00000497608:exon5:c.275+1G>C;ENST00000577531:exon6:c.358+1G>C;ENST00000582336:exon6:c.357+1G>C;ENST00000580025:exon5:c.275+1G>C;ENST00000399707:exon5:c.279+1G>C)	.	.	0.999988247793601	0.924
18	20964953	C	T	18	23384989	y	y	splicing	TMEM241(NM_032933:exon6:c.357+1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.275+1G>A;ENST00000473688:exon6:c.357+1G>A;ENST00000477053:exon5:c.279+1G>A;ENST00000383233:exon6:c.357+1G>A;ENST00000460322:exon4:c.197+1G>A;ENST00000542162:exon6:c.357+1G>A;ENST00000578520:exon6:c.357+1G>A;ENST00000482411:exon5:c.310+1G>A;ENST00000497608:exon5:c.275+1G>A;ENST00000577531:exon6:c.358+1G>A;ENST00000582336:exon6:c.357+1G>A;ENST00000580025:exon5:c.275+1G>A;ENST00000399707:exon5:c.279+1G>A)	.	.	0.999988247793601	0.924
18	20964954	C	A	18	23384990	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.G357T:p.E119D;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.G357T:p.E119D;ENSG00000134490:ENST00000578520:exon5:c.G357T:p.E119D;ENSG00000134490:ENST00000582336:exon5:c.G357T:p.E119D;ENSG00000134490:ENST00000542162:exon5:c.G357T:p.E119D;ENSG00000134490:ENST00000473688:exon5:c.G357T:p.E119D;ENSG00000134490:ENST00000399707:exon4:c.G279T:p.E93D;ENSG00000134490:ENST00000477053:exon4:c.G279T:p.E93D;	0.999974712188808	0.966
18	20964954	C	G	18	23384990	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.G357C:p.E119D;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.G357C:p.E119D;ENSG00000134490:ENST00000578520:exon5:c.G357C:p.E119D;ENSG00000134490:ENST00000582336:exon5:c.G357C:p.E119D;ENSG00000134490:ENST00000542162:exon5:c.G357C:p.E119D;ENSG00000134490:ENST00000473688:exon5:c.G357C:p.E119D;ENSG00000134490:ENST00000399707:exon4:c.G279C:p.E93D;ENSG00000134490:ENST00000477053:exon4:c.G279C:p.E93D;	0.999995316311474	0.99
18	20964954	C	T	18	23384990	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon5:c.G357A:p.E119E;	exonic	ENSG00000134490	synonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.G357A:p.E119E;ENSG00000134490:ENST00000578520:exon5:c.G357A:p.E119E;ENSG00000134490:ENST00000582336:exon5:c.G357A:p.E119E;ENSG00000134490:ENST00000542162:exon5:c.G357A:p.E119E;ENSG00000134490:ENST00000473688:exon5:c.G357A:p.E119E;ENSG00000134490:ENST00000399707:exon4:c.G279A:p.E93E;ENSG00000134490:ENST00000477053:exon4:c.G279A:p.E93E;	0.999972914901273	0.988
18	20964955	T	A	18	23384991	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.A356T:p.E119V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.A356T:p.E119V;ENSG00000134490:ENST00000578520:exon5:c.A356T:p.E119V;ENSG00000134490:ENST00000582336:exon5:c.A356T:p.E119V;ENSG00000134490:ENST00000542162:exon5:c.A356T:p.E119V;ENSG00000134490:ENST00000473688:exon5:c.A356T:p.E119V;ENSG00000134490:ENST00000399707:exon4:c.A278T:p.E93V;ENSG00000134490:ENST00000477053:exon4:c.A278T:p.E93V;	0.997417627308691	0.724
18	20964955	T	C	18	23384991	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.A356G:p.E119G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.A356G:p.E119G;ENSG00000134490:ENST00000578520:exon5:c.A356G:p.E119G;ENSG00000134490:ENST00000582336:exon5:c.A356G:p.E119G;ENSG00000134490:ENST00000542162:exon5:c.A356G:p.E119G;ENSG00000134490:ENST00000473688:exon5:c.A356G:p.E119G;ENSG00000134490:ENST00000399707:exon4:c.A278G:p.E93G;ENSG00000134490:ENST00000477053:exon4:c.A278G:p.E93G;	0.998203030807815	0.816
18	20964955	T	G	18	23384991	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.A356C:p.E119A;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.A356C:p.E119A;ENSG00000134490:ENST00000578520:exon5:c.A356C:p.E119A;ENSG00000134490:ENST00000582336:exon5:c.A356C:p.E119A;ENSG00000134490:ENST00000542162:exon5:c.A356C:p.E119A;ENSG00000134490:ENST00000473688:exon5:c.A356C:p.E119A;ENSG00000134490:ENST00000399707:exon4:c.A278C:p.E93A;ENSG00000134490:ENST00000477053:exon4:c.A278C:p.E93A;	0.997260648647845	0.806
18	20964956	C	A	18	23384992	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon5:c.G355T:p.E119X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon5:c.G355T:p.E119X;ENSG00000134490:ENST00000578520:exon5:c.G355T:p.E119X;ENSG00000134490:ENST00000582336:exon5:c.G355T:p.E119X;ENSG00000134490:ENST00000542162:exon5:c.G355T:p.E119X;ENSG00000134490:ENST00000473688:exon5:c.G355T:p.E119X;ENSG00000134490:ENST00000399707:exon4:c.G277T:p.E93X;ENSG00000134490:ENST00000477053:exon4:c.G277T:p.E93X;	0.989924143844605	0.632
18	20964956	C	G	18	23384992	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.G355C:p.E119Q;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.G355C:p.E119Q;ENSG00000134490:ENST00000578520:exon5:c.G355C:p.E119Q;ENSG00000134490:ENST00000582336:exon5:c.G355C:p.E119Q;ENSG00000134490:ENST00000542162:exon5:c.G355C:p.E119Q;ENSG00000134490:ENST00000473688:exon5:c.G355C:p.E119Q;ENSG00000134490:ENST00000399707:exon4:c.G277C:p.E93Q;ENSG00000134490:ENST00000477053:exon4:c.G277C:p.E93Q;	0.00215755214354582	0.004
18	20964956	C	T	18	23384992	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.G355A:p.E119K;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.G355A:p.E119K;ENSG00000134490:ENST00000578520:exon5:c.G355A:p.E119K;ENSG00000134490:ENST00000582336:exon5:c.G355A:p.E119K;ENSG00000134490:ENST00000542162:exon5:c.G355A:p.E119K;ENSG00000134490:ENST00000473688:exon5:c.G355A:p.E119K;ENSG00000134490:ENST00000399707:exon4:c.G277A:p.E93K;ENSG00000134490:ENST00000477053:exon4:c.G277A:p.E93K;	0.00502746727750416	0.044
18	20965030	G	A	18	23385066	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.C281T:p.A94V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.C281T:p.A94V;ENSG00000134490:ENST00000578520:exon5:c.C281T:p.A94V;ENSG00000134490:ENST00000460322:exon3:c.C121T:p.P41S;ENSG00000134490:ENST00000582336:exon5:c.C281T:p.A94V;ENSG00000134490:ENST00000581444:exon4:c.C199T:p.P67S;ENSG00000134490:ENST00000497608:exon4:c.C199T:p.P67S;ENSG00000134490:ENST00000542162:exon5:c.C281T:p.A94V;ENSG00000134490:ENST00000473688:exon5:c.C281T:p.A94V;ENSG00000134490:ENST00000399707:exon4:c.C203T:p.A68V;ENSG00000134490:ENST00000477053:exon4:c.C203T:p.A68V;ENSG00000134490:ENST00000580025:exon4:c.C199T:p.P67S;	0.00390426967105028	0.03
18	20965030	G	C	18	23385066	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.C281G:p.A94G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.C281G:p.A94G;ENSG00000134490:ENST00000578520:exon5:c.C281G:p.A94G;ENSG00000134490:ENST00000460322:exon3:c.C121G:p.P41A;ENSG00000134490:ENST00000582336:exon5:c.C281G:p.A94G;ENSG00000134490:ENST00000581444:exon4:c.C199G:p.P67A;ENSG00000134490:ENST00000497608:exon4:c.C199G:p.P67A;ENSG00000134490:ENST00000542162:exon5:c.C281G:p.A94G;ENSG00000134490:ENST00000473688:exon5:c.C281G:p.A94G;ENSG00000134490:ENST00000399707:exon4:c.C203G:p.A68G;ENSG00000134490:ENST00000477053:exon4:c.C203G:p.A68G;ENSG00000134490:ENST00000580025:exon4:c.C199G:p.P67A;	0.0089868966882595	0.034
18	20965030	G	T	18	23385066	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.C281A:p.A94D;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.C281A:p.A94D;ENSG00000134490:ENST00000578520:exon5:c.C281A:p.A94D;ENSG00000134490:ENST00000460322:exon3:c.C121A:p.P41T;ENSG00000134490:ENST00000582336:exon5:c.C281A:p.A94D;ENSG00000134490:ENST00000581444:exon4:c.C199A:p.P67T;ENSG00000134490:ENST00000497608:exon4:c.C199A:p.P67T;ENSG00000134490:ENST00000542162:exon5:c.C281A:p.A94D;ENSG00000134490:ENST00000473688:exon5:c.C281A:p.A94D;ENSG00000134490:ENST00000399707:exon4:c.C203A:p.A68D;ENSG00000134490:ENST00000477053:exon4:c.C203A:p.A68D;ENSG00000134490:ENST00000580025:exon4:c.C199A:p.P67T;	0.0110021663127253	0.044
18	20965031	C	A	18	23385067	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.G280T:p.A94S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.G280T:p.A94S;ENSG00000134490:ENST00000578520:exon5:c.G280T:p.A94S;ENSG00000134490:ENST00000582336:exon5:c.G280T:p.A94S;ENSG00000134490:ENST00000577531:exon5:c.G281T:p.G94V;ENSG00000134490:ENST00000482411:exon4:c.G233T:p.G78V;ENSG00000134490:ENST00000581444:exon4:c.G198T:p.R66S;ENSG00000134490:ENST00000497608:exon4:c.G198T:p.R66S;ENSG00000134490:ENST00000542162:exon5:c.G280T:p.A94S;ENSG00000134490:ENST00000473688:exon5:c.G280T:p.A94S;ENSG00000134490:ENST00000399707:exon4:c.G202T:p.A68S;ENSG00000134490:ENST00000477053:exon4:c.G202T:p.A68S;ENSG00000134490:ENST00000580025:exon4:c.G198T:p.R66S;	0.117708291739774	0.42
18	20965031	C	G	18	23385067	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.G280C:p.A94P;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.G280C:p.A94P;ENSG00000134490:ENST00000578520:exon5:c.G280C:p.A94P;ENSG00000134490:ENST00000582336:exon5:c.G280C:p.A94P;ENSG00000134490:ENST00000577531:exon5:c.G281C:p.G94A;ENSG00000134490:ENST00000482411:exon4:c.G233C:p.G78A;ENSG00000134490:ENST00000581444:exon4:c.G198C:p.R66S;ENSG00000134490:ENST00000497608:exon4:c.G198C:p.R66S;ENSG00000134490:ENST00000542162:exon5:c.G280C:p.A94P;ENSG00000134490:ENST00000473688:exon5:c.G280C:p.A94P;ENSG00000134490:ENST00000399707:exon4:c.G202C:p.A68P;ENSG00000134490:ENST00000477053:exon4:c.G202C:p.A68P;ENSG00000134490:ENST00000580025:exon4:c.G198C:p.R66S;	0.0390884683528354	0.284
18	20965031	C	T	18	23385067	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon5:c.G280A:p.A94T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon5:c.G280A:p.A94T;ENSG00000134490:ENST00000578520:exon5:c.G280A:p.A94T;ENSG00000134490:ENST00000582336:exon5:c.G280A:p.A94T;ENSG00000134490:ENST00000577531:exon5:c.G281A:p.G94D;ENSG00000134490:ENST00000482411:exon4:c.G233A:p.G78D;ENSG00000134490:ENST00000542162:exon5:c.G280A:p.A94T;ENSG00000134490:ENST00000473688:exon5:c.G280A:p.A94T;ENSG00000134490:ENST00000399707:exon4:c.G202A:p.A68T;ENSG00000134490:ENST00000477053:exon4:c.G202A:p.A68T;	0.00544606350247639	0.24
18	20965032	C	A	18	23385068	y	y	splicing	TMEM241(NM_032933:exon6:c.280-1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.198-1G>T;ENST00000473688:exon6:c.280-1G>T;ENST00000477053:exon5:c.202-1G>T;ENST00000383233:exon6:c.280-1G>T;ENST00000460322:exon4:c.120-1G>T;ENST00000542162:exon6:c.280-1G>T;ENST00000578520:exon6:c.280-1G>T;ENST00000482411:exon5:c.233-1G>T;ENST00000497608:exon5:c.198-1G>T;ENST00000577531:exon6:c.281-1G>T;ENST00000582336:exon6:c.280-1G>T;ENST00000580025:exon5:c.198-1G>T;ENST00000399707:exon5:c.202-1G>T)	.	.	0.999988247793601	0.928
18	20965032	C	G	18	23385068	y	y	splicing	TMEM241(NM_032933:exon6:c.280-1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.198-1G>C;ENST00000473688:exon6:c.280-1G>C;ENST00000477053:exon5:c.202-1G>C;ENST00000383233:exon6:c.280-1G>C;ENST00000460322:exon4:c.120-1G>C;ENST00000542162:exon6:c.280-1G>C;ENST00000578520:exon6:c.280-1G>C;ENST00000482411:exon5:c.233-1G>C;ENST00000497608:exon5:c.198-1G>C;ENST00000577531:exon6:c.281-1G>C;ENST00000582336:exon6:c.280-1G>C;ENST00000580025:exon5:c.198-1G>C;ENST00000399707:exon5:c.202-1G>C)	.	.	0.999988247793601	0.928
18	20965032	C	T	18	23385068	y	y	splicing	TMEM241(NM_032933:exon6:c.280-1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.198-1G>A;ENST00000473688:exon6:c.280-1G>A;ENST00000477053:exon5:c.202-1G>A;ENST00000383233:exon6:c.280-1G>A;ENST00000460322:exon4:c.120-1G>A;ENST00000542162:exon6:c.280-1G>A;ENST00000578520:exon6:c.280-1G>A;ENST00000482411:exon5:c.233-1G>A;ENST00000497608:exon5:c.198-1G>A;ENST00000577531:exon6:c.281-1G>A;ENST00000582336:exon6:c.280-1G>A;ENST00000580025:exon5:c.198-1G>A;ENST00000399707:exon5:c.202-1G>A)	.	.	0.999988247793601	0.926
18	20965033	T	A	18	23385069	y	y	splicing	TMEM241(NM_032933:exon6:c.280-2A>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.198-2A>T;ENST00000473688:exon6:c.280-2A>T;ENST00000477053:exon5:c.202-2A>T;ENST00000383233:exon6:c.280-2A>T;ENST00000460322:exon4:c.120-2A>T;ENST00000542162:exon6:c.280-2A>T;ENST00000578520:exon6:c.280-2A>T;ENST00000482411:exon5:c.233-2A>T;ENST00000497608:exon5:c.198-2A>T;ENST00000577531:exon6:c.281-2A>T;ENST00000582336:exon6:c.280-2A>T;ENST00000580025:exon5:c.198-2A>T;ENST00000399707:exon5:c.202-2A>T)	.	.	0.999993519952936	0.924
18	20965033	T	C	18	23385069	y	y	splicing	TMEM241(NM_032933:exon6:c.280-2A>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.198-2A>G;ENST00000473688:exon6:c.280-2A>G;ENST00000477053:exon5:c.202-2A>G;ENST00000383233:exon6:c.280-2A>G;ENST00000460322:exon4:c.120-2A>G;ENST00000542162:exon6:c.280-2A>G;ENST00000578520:exon6:c.280-2A>G;ENST00000482411:exon5:c.233-2A>G;ENST00000497608:exon5:c.198-2A>G;ENST00000577531:exon6:c.281-2A>G;ENST00000582336:exon6:c.280-2A>G;ENST00000580025:exon5:c.198-2A>G;ENST00000399707:exon5:c.202-2A>G)	.	.	0.999993519952936	0.924
18	20965033	T	G	18	23385069	y	y	splicing	TMEM241(NM_032933:exon6:c.280-2A>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon5:c.198-2A>C;ENST00000473688:exon6:c.280-2A>C;ENST00000477053:exon5:c.202-2A>C;ENST00000383233:exon6:c.280-2A>C;ENST00000460322:exon4:c.120-2A>C;ENST00000542162:exon6:c.280-2A>C;ENST00000578520:exon6:c.280-2A>C;ENST00000482411:exon5:c.233-2A>C;ENST00000497608:exon5:c.198-2A>C;ENST00000577531:exon6:c.281-2A>C;ENST00000582336:exon6:c.280-2A>C;ENST00000580025:exon5:c.198-2A>C;ENST00000399707:exon5:c.202-2A>C)	.	.	0.999993519952936	0.924
18	20965034	G	A	18	23385070	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00159504649858647	0.022
18	20965034	G	C	18	23385070	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997950315234046	0.852
18	20965034	G	T	18	23385070	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.304132068713647	0.48
18	20965035	A	C	18	23385071	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.95903671218955E-5	0.0
18	20965035	A	G	18	23385071	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.88216848469941E-5	0.0
18	20965035	A	T	18	23385071	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.59647835257501E-5	0.0
18	20965036	A	C	18	23385072	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00265425167948227	0.246
18	20965036	A	G	18	23385072	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00163360797554136	0.03
18	20965036	A	T	18	23385072	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00231867906921061	0.194
18	20965037	A	C	18	23385073	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.27261492047223E-4	0.068
18	20965037	A	G	18	23385073	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.40563480238896E-5	0.0
18	20965037	A	T	18	23385073	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.97405097098075E-4	0.072
18	20965038	G	A	18	23385074	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.40328622298533E-5	0.0
18	20965038	G	C	18	23385074	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.2548924814149E-5	0.024
18	20965038	G	T	18	23385074	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.11646833632483E-5	0.028
18	20965039	A	C	18	23385075	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.88978637445642E-5	0.03
18	20965039	A	G	18	23385075	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.37332344801798E-5	0.002
18	20965039	A	T	18	23385075	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.27624511365392E-4	0.03
18	20965040	A	C	18	23385076	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0136578159764675	0.198
18	20965040	A	G	18	23385076	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.004294516820104	0.04
18	20965040	A	T	18	23385076	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0123699880900162	0.224
18	20965041	A	C	18	23385077	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00376575269191097	0.198
18	20965041	A	G	18	23385077	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00412121535289301	0.064
18	20965041	A	T	18	23385077	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0229412465330499	0.312
18	20965042	A	C	18	23385078	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0303552257697568	0.378
18	20965042	A	G	18	23385078	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0134238318883249	0.12
18	20965042	A	T	18	23385078	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0305355750939552	0.442
18	20965043	C	A	18	23385079	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.55788472135952E-4	0.002
18	20965043	C	G	18	23385079	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.45051656729451E-4	0.0
18	20965043	C	T	18	23385079	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.2570770613869E-4	0.024
18	20979522	A	C	18	23399558	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.19053194304606E-5	0.01
18	20979522	A	G	18	23399558	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.19053194304606E-5	0.006
18	20979522	A	T	18	23399558	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.35480018914068E-5	0.0
18	20979523	T	A	18	23399559	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.31514313918157E-4	0.006
18	20979523	T	C	18	23399559	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.08807875032343E-4	0.004
18	20979523	T	G	18	23399559	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.65164625162413E-4	0.004
18	20979524	A	C	18	23399560	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00387787040777527	0.142
18	20979524	A	G	18	23399560	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.039784763133313	0.236
18	20979524	A	T	18	23399560	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0446189897667794	0.242
18	20979525	C	A	18	23399561	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996937493858807	0.906
18	20979525	C	G	18	23399561	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.995478276136112	0.886
18	20979525	C	T	18	23399561	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997661331259809	0.918
18	20979526	T	A	18	23399562	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.983519605279875	0.732
18	20979526	T	C	18	23399562	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99784725573845	0.794
18	20979526	T	G	18	23399562	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.964811717342962	0.758
18	20979527	T	A	18	23399563	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.869490536204395	0.556
18	20979527	T	C	18	23399563	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.76857823047088E-4	0.06
18	20979527	T	G	18	23399563	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.706170999406449	0.592
18	20979528	A	C	18	23399564	y	y	splicing	TMEM241(NM_032933:exon5:c.279+2T>G)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.279+2T>G;ENST00000477053:exon4:c.201+2T>G;ENST00000383233:exon5:c.279+2T>G;ENST00000542162:exon5:c.279+2T>G;ENST00000578520:exon5:c.279+2T>G;ENST00000482411:exon4:c.232+2T>G;ENST00000577531:exon5:c.280+2T>G;ENST00000582336:exon5:c.279+2T>G;ENST00000399707:exon4:c.201+2T>G)	.	.	0.999989917668626	0.928
18	20979528	A	G	18	23399564	y	y	splicing	TMEM241(NM_032933:exon5:c.279+2T>C)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.279+2T>C;ENST00000477053:exon4:c.201+2T>C;ENST00000383233:exon5:c.279+2T>C;ENST00000542162:exon5:c.279+2T>C;ENST00000578520:exon5:c.279+2T>C;ENST00000482411:exon4:c.232+2T>C;ENST00000577531:exon5:c.280+2T>C;ENST00000582336:exon5:c.279+2T>C;ENST00000399707:exon4:c.201+2T>C)	.	.	0.991781671885672	0.604
18	20979528	A	T	18	23399564	y	y	splicing	TMEM241(NM_032933:exon5:c.279+2T>A)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.279+2T>A;ENST00000477053:exon4:c.201+2T>A;ENST00000383233:exon5:c.279+2T>A;ENST00000542162:exon5:c.279+2T>A;ENST00000578520:exon5:c.279+2T>A;ENST00000482411:exon4:c.232+2T>A;ENST00000577531:exon5:c.280+2T>A;ENST00000582336:exon5:c.279+2T>A;ENST00000399707:exon4:c.201+2T>A)	.	.	0.999989917668626	0.928
18	20979529	C	A	18	23399565	y	y	splicing	TMEM241(NM_032933:exon5:c.279+1G>T)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.279+1G>T;ENST00000477053:exon4:c.201+1G>T;ENST00000383233:exon5:c.279+1G>T;ENST00000542162:exon5:c.279+1G>T;ENST00000578520:exon5:c.279+1G>T;ENST00000482411:exon4:c.232+1G>T;ENST00000577531:exon5:c.280+1G>T;ENST00000582336:exon5:c.279+1G>T;ENST00000399707:exon4:c.201+1G>T)	.	.	0.999986675681007	0.934
18	20979529	C	G	18	23399565	y	y	splicing	TMEM241(NM_032933:exon5:c.279+1G>C)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.279+1G>C;ENST00000477053:exon4:c.201+1G>C;ENST00000383233:exon5:c.279+1G>C;ENST00000542162:exon5:c.279+1G>C;ENST00000578520:exon5:c.279+1G>C;ENST00000482411:exon4:c.232+1G>C;ENST00000577531:exon5:c.280+1G>C;ENST00000582336:exon5:c.279+1G>C;ENST00000399707:exon4:c.201+1G>C)	.	.	0.999986675681007	0.934
18	20979529	C	T	18	23399565	y	y	splicing	TMEM241(NM_032933:exon5:c.279+1G>A)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.279+1G>A;ENST00000477053:exon4:c.201+1G>A;ENST00000383233:exon5:c.279+1G>A;ENST00000542162:exon5:c.279+1G>A;ENST00000578520:exon5:c.279+1G>A;ENST00000482411:exon4:c.232+1G>A;ENST00000577531:exon5:c.280+1G>A;ENST00000582336:exon5:c.279+1G>A;ENST00000399707:exon4:c.201+1G>A)	.	.	0.999986675681007	0.934
18	20979530	C	A	18	23399566	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon4:c.G279T:p.L93L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon4:c.G280T:p.G94C;ENSG00000134490:ENST00000482411:exon3:c.G232T:p.G78C;	0.959458028835174	0.856
18	20979530	C	G	18	23399566	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon4:c.G279C:p.L93L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon4:c.G280C:p.G94R;ENSG00000134490:ENST00000482411:exon3:c.G232C:p.G78R;	0.980865057475439	0.794
18	20979530	C	T	18	23399566	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon4:c.G279A:p.L93L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon4:c.G280A:p.G94S;ENSG00000134490:ENST00000482411:exon3:c.G232A:p.G78S;	0.997419814416585	0.878
18	20979531	A	C	18	23399567	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.T278G:p.L93R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.T278G:p.L93R;ENSG00000134490:ENST00000578520:exon4:c.T278G:p.L93R;ENSG00000134490:ENST00000582336:exon4:c.T278G:p.L93R;ENSG00000134490:ENST00000542162:exon4:c.T278G:p.L93R;ENSG00000134490:ENST00000473688:exon4:c.T278G:p.L93R;ENSG00000134490:ENST00000399707:exon3:c.T200G:p.L67R;ENSG00000134490:ENST00000477053:exon3:c.T200G:p.L67R;	0.00958582590374351	0.142
18	20979531	A	G	18	23399567	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.T278C:p.L93P;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.T278C:p.L93P;ENSG00000134490:ENST00000578520:exon4:c.T278C:p.L93P;ENSG00000134490:ENST00000582336:exon4:c.T278C:p.L93P;ENSG00000134490:ENST00000542162:exon4:c.T278C:p.L93P;ENSG00000134490:ENST00000473688:exon4:c.T278C:p.L93P;ENSG00000134490:ENST00000399707:exon3:c.T200C:p.L67P;ENSG00000134490:ENST00000477053:exon3:c.T200C:p.L67P;	0.00782956531322526	0.102
18	20979531	A	T	18	23399567	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.T278A:p.L93Q;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.T278A:p.L93Q;ENSG00000134490:ENST00000578520:exon4:c.T278A:p.L93Q;ENSG00000134490:ENST00000582336:exon4:c.T278A:p.L93Q;ENSG00000134490:ENST00000542162:exon4:c.T278A:p.L93Q;ENSG00000134490:ENST00000473688:exon4:c.T278A:p.L93Q;ENSG00000134490:ENST00000399707:exon3:c.T200A:p.L67Q;ENSG00000134490:ENST00000477053:exon3:c.T200A:p.L67Q;	0.0043248597263706	0.076
18	20979532	G	A	18	23399568	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon4:c.C277T:p.L93L;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon4:c.C278T:p.T93I;ENSG00000134490:ENST00000482411:exon3:c.C230T:p.T77I;	0.0234884123443056	0.114
18	20979532	G	C	18	23399568	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.C277G:p.L93V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.C277G:p.L93V;ENSG00000134490:ENST00000578520:exon4:c.C277G:p.L93V;ENSG00000134490:ENST00000582336:exon4:c.C277G:p.L93V;ENSG00000134490:ENST00000577531:exon4:c.C278G:p.T93S;ENSG00000134490:ENST00000482411:exon3:c.C230G:p.T77S;ENSG00000134490:ENST00000542162:exon4:c.C277G:p.L93V;ENSG00000134490:ENST00000473688:exon4:c.C277G:p.L93V;ENSG00000134490:ENST00000399707:exon3:c.C199G:p.L67V;ENSG00000134490:ENST00000477053:exon3:c.C199G:p.L67V;	0.0010617931299066	0.042
18	20979532	G	T	18	23399568	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.C277A:p.L93M;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.C277A:p.L93M;ENSG00000134490:ENST00000578520:exon4:c.C277A:p.L93M;ENSG00000134490:ENST00000582336:exon4:c.C277A:p.L93M;ENSG00000134490:ENST00000577531:exon4:c.C278A:p.T93N;ENSG00000134490:ENST00000482411:exon3:c.C230A:p.T77N;ENSG00000134490:ENST00000542162:exon4:c.C277A:p.L93M;ENSG00000134490:ENST00000473688:exon4:c.C277A:p.L93M;ENSG00000134490:ENST00000399707:exon3:c.C199A:p.L67M;ENSG00000134490:ENST00000477053:exon3:c.C199A:p.L67M;	0.0012305288135464	0.036
18	20979610	A	C	18	23399646	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.T199G:p.S67A;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.T199G:p.S67A;ENSG00000134490:ENST00000578520:exon4:c.T199G:p.S67A;ENSG00000134490:ENST00000582336:exon4:c.T199G:p.S67A;ENSG00000134490:ENST00000577531:exon4:c.T200G:p.I67S;ENSG00000134490:ENST00000482411:exon3:c.T152G:p.I51S;ENSG00000134490:ENST00000542162:exon4:c.T199G:p.S67A;ENSG00000134490:ENST00000473688:exon4:c.T199G:p.S67A;ENSG00000134490:ENST00000399707:exon3:c.T121G:p.S41A;ENSG00000134490:ENST00000477053:exon3:c.T121G:p.S41A;	3.51635450566319E-4	0.0
18	20979610	A	G	18	23399646	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.T199C:p.S67P;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.T199C:p.S67P;ENSG00000134490:ENST00000578520:exon4:c.T199C:p.S67P;ENSG00000134490:ENST00000582336:exon4:c.T199C:p.S67P;ENSG00000134490:ENST00000577531:exon4:c.T200C:p.I67T;ENSG00000134490:ENST00000482411:exon3:c.T152C:p.I51T;ENSG00000134490:ENST00000542162:exon4:c.T199C:p.S67P;ENSG00000134490:ENST00000473688:exon4:c.T199C:p.S67P;ENSG00000134490:ENST00000399707:exon3:c.T121C:p.S41P;ENSG00000134490:ENST00000477053:exon3:c.T121C:p.S41P;	2.34619342505949E-4	0.004
18	20979610	A	T	18	23399646	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.T199A:p.S67T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.T199A:p.S67T;ENSG00000134490:ENST00000578520:exon4:c.T199A:p.S67T;ENSG00000134490:ENST00000582336:exon4:c.T199A:p.S67T;ENSG00000134490:ENST00000577531:exon4:c.T200A:p.I67N;ENSG00000134490:ENST00000482411:exon3:c.T152A:p.I51N;ENSG00000134490:ENST00000542162:exon4:c.T199A:p.S67T;ENSG00000134490:ENST00000473688:exon4:c.T199A:p.S67T;ENSG00000134490:ENST00000399707:exon3:c.T121A:p.S41T;ENSG00000134490:ENST00000477053:exon3:c.T121A:p.S41T;	2.81431619351908E-4	0.004
18	20979611	T	A	18	23399647	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.A198T:p.R66S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.A198T:p.R66S;ENSG00000134490:ENST00000578520:exon4:c.A198T:p.R66S;ENSG00000134490:ENST00000582336:exon4:c.A198T:p.R66S;ENSG00000134490:ENST00000577531:exon4:c.A199T:p.I67F;ENSG00000134490:ENST00000482411:exon3:c.A151T:p.I51F;ENSG00000134490:ENST00000542162:exon4:c.A198T:p.R66S;ENSG00000134490:ENST00000473688:exon4:c.A198T:p.R66S;	0.00113052946728782	0.026
18	20979611	T	C	18	23399647	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon4:c.A198G:p.R66R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon4:c.A199G:p.I67V;ENSG00000134490:ENST00000482411:exon3:c.A151G:p.I51V;	4.78228467054685E-5	0.0
18	20979611	T	G	18	23399647	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon4:c.A198C:p.R66S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon4:c.A198C:p.R66S;ENSG00000134490:ENST00000578520:exon4:c.A198C:p.R66S;ENSG00000134490:ENST00000582336:exon4:c.A198C:p.R66S;ENSG00000134490:ENST00000577531:exon4:c.A199C:p.I67L;ENSG00000134490:ENST00000482411:exon3:c.A151C:p.I51L;ENSG00000134490:ENST00000542162:exon4:c.A198C:p.R66S;ENSG00000134490:ENST00000473688:exon4:c.A198C:p.R66S;	0.00110884186506936	0.022
18	20979612	C	A	18	23399648	y	y	splicing	TMEM241(NM_032933:exon5:c.198-1G>T)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.198-1G>T;ENST00000477053:exon4:c.120-1G>T;ENST00000383233:exon5:c.198-1G>T;ENST00000542162:exon5:c.198-1G>T;ENST00000578520:exon5:c.198-1G>T;ENST00000482411:exon4:c.151-1G>T;ENST00000577531:exon5:c.199-1G>T;ENST00000582336:exon5:c.198-1G>T;ENST00000399707:exon4:c.120-1G>T)	.	.	0.99993314117114	0.928
18	20979612	C	G	18	23399648	y	y	splicing	TMEM241(NM_032933:exon5:c.198-1G>C)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.198-1G>C;ENST00000477053:exon4:c.120-1G>C;ENST00000383233:exon5:c.198-1G>C;ENST00000542162:exon5:c.198-1G>C;ENST00000578520:exon5:c.198-1G>C;ENST00000482411:exon4:c.151-1G>C;ENST00000577531:exon5:c.199-1G>C;ENST00000582336:exon5:c.198-1G>C;ENST00000399707:exon4:c.120-1G>C)	.	.	0.99993314117114	0.932
18	20979612	C	T	18	23399648	y	y	splicing	TMEM241(NM_032933:exon5:c.198-1G>A)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.198-1G>A;ENST00000477053:exon4:c.120-1G>A;ENST00000383233:exon5:c.198-1G>A;ENST00000542162:exon5:c.198-1G>A;ENST00000578520:exon5:c.198-1G>A;ENST00000482411:exon4:c.151-1G>A;ENST00000577531:exon5:c.199-1G>A;ENST00000582336:exon5:c.198-1G>A;ENST00000399707:exon4:c.120-1G>A)	.	.	0.999974090184857	0.93
18	20979613	T	A	18	23399649	y	y	splicing	TMEM241(NM_032933:exon5:c.198-2A>T)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.198-2A>T;ENST00000477053:exon4:c.120-2A>T;ENST00000383233:exon5:c.198-2A>T;ENST00000542162:exon5:c.198-2A>T;ENST00000578520:exon5:c.198-2A>T;ENST00000482411:exon4:c.151-2A>T;ENST00000577531:exon5:c.199-2A>T;ENST00000582336:exon5:c.198-2A>T;ENST00000399707:exon4:c.120-2A>T)	.	.	0.99994568797423	0.926
18	20979613	T	C	18	23399649	y	y	splicing	TMEM241(NM_032933:exon5:c.198-2A>G)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.198-2A>G;ENST00000477053:exon4:c.120-2A>G;ENST00000383233:exon5:c.198-2A>G;ENST00000542162:exon5:c.198-2A>G;ENST00000578520:exon5:c.198-2A>G;ENST00000482411:exon4:c.151-2A>G;ENST00000577531:exon5:c.199-2A>G;ENST00000582336:exon5:c.198-2A>G;ENST00000399707:exon4:c.120-2A>G)	.	.	0.99994568797423	0.93
18	20979613	T	G	18	23399649	y	y	splicing	TMEM241(NM_032933:exon5:c.198-2A>C)	.	.	splicing	ENSG00000134490(ENST00000473688:exon5:c.198-2A>C;ENST00000477053:exon4:c.120-2A>C;ENST00000383233:exon5:c.198-2A>C;ENST00000542162:exon5:c.198-2A>C;ENST00000578520:exon5:c.198-2A>C;ENST00000482411:exon4:c.151-2A>C;ENST00000577531:exon5:c.199-2A>C;ENST00000582336:exon5:c.198-2A>C;ENST00000399707:exon4:c.120-2A>C)	.	.	0.99994568797423	0.93
18	20979614	G	A	18	23399650	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00106592071051156	0.136
18	20979614	G	C	18	23399650	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996198996731736	0.86
18	20979614	G	T	18	23399650	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0496138209045075	0.328
18	20979615	A	C	18	23399651	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.14266557507846E-5	0.0
18	20979615	A	G	18	23399651	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.80882063095634E-5	0.002
18	20979615	A	T	18	23399651	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.51282002907071E-5	0.0
18	20979616	A	C	18	23399652	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.73075997061386E-4	0.094
18	20979616	A	G	18	23399652	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.44437489573713E-4	0.004
18	20979616	A	T	18	23399652	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.24654381848803E-4	0.082
18	20979617	A	C	18	23399653	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.60262909674865E-4	0.132
18	20979617	A	G	18	23399653	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.2503592680397E-5	0.01
18	20979617	A	T	18	23399653	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.6311417593269E-4	0.042
18	20979618	A	C	18	23399654	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.02498643306474E-4	0.098
18	20979618	A	G	18	23399654	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.61533731947249E-4	0.026
18	20979618	A	T	18	23399654	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.20423975440754E-4	0.096
18	20979619	G	A	18	23399655	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.7714942118714E-5	0.006
18	20979619	G	C	18	23399655	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.79468261663484E-5	0.036
18	20979619	G	T	18	23399655	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.53666821576949E-4	0.032
18	20979620	A	C	18	23399656	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.59047559445446E-4	0.098
18	20979620	A	G	18	23399656	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.50466344351819E-5	0.006
18	20979620	A	T	18	23399656	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.60307181824025E-4	0.124
18	20979621	G	A	18	23399657	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.27548350319013E-5	0.002
18	20979621	G	C	18	23399657	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.07587733396865E-5	0.006
18	20979621	G	T	18	23399657	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.10213980422312E-5	0.008
18	20979622	G	A	18	23399658	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.35870362351189E-5	0.0
18	20979622	G	C	18	23399658	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.8309774719338E-5	0.0
18	20979622	G	T	18	23399658	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.62437186529832E-4	0.008
18	20979623	G	A	18	23399659	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.25896440652391E-5	0.0
18	20979623	G	C	18	23399659	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	9.92737024905149E-5	0.018
18	20979623	G	T	18	23399659	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.35380818040941E-4	0.038
18	21001323	G	A	18	23421359	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.52825886583198E-5	0.0
18	21001323	G	C	18	23421359	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.47039458636734E-4	0.002
18	21001323	G	T	18	23421359	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.73161112018377E-4	0.0
18	21001324	G	A	18	23421360	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00238324414013021	0.136
18	21001324	G	C	18	23421360	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.3479911189456E-4	0.024
18	21001324	G	T	18	23421360	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.72697968903157E-4	0.014
18	21001325	T	A	18	23421361	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.91635765426405E-5	0.032
18	21001325	T	C	18	23421361	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.59291630922622E-5	0.008
18	21001325	T	G	18	23421361	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.22389436258001E-4	0.056
18	21001326	T	A	18	23421362	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00148247866611455	0.218
18	21001326	T	C	18	23421362	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.96452404373749E-4	0.064
18	21001326	T	G	18	23421362	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.36958199416091E-4	0.022
18	21001327	A	C	18	23421363	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.75403771083256E-4	0.016
18	21001327	A	G	18	23421363	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00227685925191433	0.094
18	21001327	A	T	18	23421363	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	7.51357791625971E-5	0.038
18	21001328	T	A	18	23421364	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999960868516904	0.968
18	21001328	T	C	18	23421364	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999863360136153	0.938
18	21001328	T	G	18	23421364	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999937451302352	0.914
18	21001329	A	C	18	23421365	y	y	splicing	TMEM241(NM_032933:exon4:c.197+2T>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.197+2T>G;ENST00000473688:exon4:c.197+2T>G;ENST00000383233:exon4:c.197+2T>G;ENST00000542162:exon4:c.197+2T>G;ENST00000578520:exon4:c.197+2T>G;ENST00000482411:exon3:c.150+2T>G;ENST00000497608:exon4:c.197+2T>G;ENST00000577531:exon4:c.198+2T>G;ENST00000582336:exon4:c.197+2T>G;ENST00000580025:exon4:c.197+2T>G)	.	.	0.999988247793601	0.948
18	21001329	A	G	18	23421365	y	y	splicing	TMEM241(NM_032933:exon4:c.197+2T>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.197+2T>C;ENST00000473688:exon4:c.197+2T>C;ENST00000383233:exon4:c.197+2T>C;ENST00000542162:exon4:c.197+2T>C;ENST00000578520:exon4:c.197+2T>C;ENST00000482411:exon3:c.150+2T>C;ENST00000497608:exon4:c.197+2T>C;ENST00000577531:exon4:c.198+2T>C;ENST00000582336:exon4:c.197+2T>C;ENST00000580025:exon4:c.197+2T>C)	.	.	0.993998724689378	0.688
18	21001329	A	T	18	23421365	y	y	splicing	TMEM241(NM_032933:exon4:c.197+2T>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.197+2T>A;ENST00000473688:exon4:c.197+2T>A;ENST00000383233:exon4:c.197+2T>A;ENST00000542162:exon4:c.197+2T>A;ENST00000578520:exon4:c.197+2T>A;ENST00000482411:exon3:c.150+2T>A;ENST00000497608:exon4:c.197+2T>A;ENST00000577531:exon4:c.198+2T>A;ENST00000582336:exon4:c.197+2T>A;ENST00000580025:exon4:c.197+2T>A)	.	.	0.999988247793601	0.948
18	21001330	C	A	18	23421366	y	y	splicing	TMEM241(NM_032933:exon4:c.197+1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.197+1G>T;ENST00000473688:exon4:c.197+1G>T;ENST00000383233:exon4:c.197+1G>T;ENST00000542162:exon4:c.197+1G>T;ENST00000578520:exon4:c.197+1G>T;ENST00000482411:exon3:c.150+1G>T;ENST00000497608:exon4:c.197+1G>T;ENST00000577531:exon4:c.198+1G>T;ENST00000582336:exon4:c.197+1G>T;ENST00000580025:exon4:c.197+1G>T)	.	.	0.999985532734767	0.948
18	21001330	C	G	18	23421366	y	y	splicing	TMEM241(NM_032933:exon4:c.197+1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.197+1G>C;ENST00000473688:exon4:c.197+1G>C;ENST00000383233:exon4:c.197+1G>C;ENST00000542162:exon4:c.197+1G>C;ENST00000578520:exon4:c.197+1G>C;ENST00000482411:exon3:c.150+1G>C;ENST00000497608:exon4:c.197+1G>C;ENST00000577531:exon4:c.198+1G>C;ENST00000582336:exon4:c.197+1G>C;ENST00000580025:exon4:c.197+1G>C)	.	.	0.999985532734767	0.948
18	21001330	C	T	18	23421366	y	y	splicing	TMEM241(NM_032933:exon4:c.197+1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.197+1G>A;ENST00000473688:exon4:c.197+1G>A;ENST00000383233:exon4:c.197+1G>A;ENST00000542162:exon4:c.197+1G>A;ENST00000578520:exon4:c.197+1G>A;ENST00000482411:exon3:c.150+1G>A;ENST00000497608:exon4:c.197+1G>A;ENST00000577531:exon4:c.198+1G>A;ENST00000582336:exon4:c.197+1G>A;ENST00000580025:exon4:c.197+1G>A)	.	.	0.999985532734767	0.948
18	21001331	C	A	18	23421367	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon3:c.G197T:p.R66I;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon3:c.G197T:p.R66I;ENSG00000134490:ENST00000578520:exon3:c.G197T:p.R66I;ENSG00000134490:ENST00000582336:exon3:c.G197T:p.R66I;ENSG00000134490:ENST00000577531:exon3:c.G198T:p.K66N;ENSG00000134490:ENST00000482411:exon2:c.G150T:p.K50N;ENSG00000134490:ENST00000581444:exon3:c.G197T:p.R66M;ENSG00000134490:ENST00000497608:exon3:c.G197T:p.R66M;ENSG00000134490:ENST00000542162:exon3:c.G197T:p.R66I;ENSG00000134490:ENST00000473688:exon3:c.G197T:p.R66I;ENSG00000134490:ENST00000580025:exon3:c.G197T:p.R66M;	0.999973540729038	1.0
18	21001331	C	G	18	23421367	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon3:c.G197C:p.R66T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon3:c.G197C:p.R66T;ENSG00000134490:ENST00000578520:exon3:c.G197C:p.R66T;ENSG00000134490:ENST00000582336:exon3:c.G197C:p.R66T;ENSG00000134490:ENST00000577531:exon3:c.G198C:p.K66N;ENSG00000134490:ENST00000482411:exon2:c.G150C:p.K50N;ENSG00000134490:ENST00000581444:exon3:c.G197C:p.R66T;ENSG00000134490:ENST00000497608:exon3:c.G197C:p.R66T;ENSG00000134490:ENST00000542162:exon3:c.G197C:p.R66T;ENSG00000134490:ENST00000473688:exon3:c.G197C:p.R66T;ENSG00000134490:ENST00000580025:exon3:c.G197C:p.R66T;	0.999993742364681	1.0
18	21001331	C	T	18	23421367	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon3:c.G197A:p.R66K;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon3:c.G197A:p.R66K;ENSG00000134490:ENST00000578520:exon3:c.G197A:p.R66K;ENSG00000134490:ENST00000582336:exon3:c.G197A:p.R66K;ENSG00000134490:ENST00000581444:exon3:c.G197A:p.R66K;ENSG00000134490:ENST00000497608:exon3:c.G197A:p.R66K;ENSG00000134490:ENST00000542162:exon3:c.G197A:p.R66K;ENSG00000134490:ENST00000473688:exon3:c.G197A:p.R66K;ENSG00000134490:ENST00000580025:exon3:c.G197A:p.R66K;	0.999981341918252	1.0
18	21001332	T	A	18	23421368	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon3:c.A196T:p.R66X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon3:c.A196T:p.R66X;ENSG00000134490:ENST00000578520:exon3:c.A196T:p.R66X;ENSG00000134490:ENST00000582336:exon3:c.A196T:p.R66X;ENSG00000134490:ENST00000542162:exon3:c.A196T:p.R66X;ENSG00000134490:ENST00000473688:exon3:c.A196T:p.R66X;	0.999982866079262	1.0
18	21001332	T	C	18	23421368	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon3:c.A196G:p.R66G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon3:c.A196G:p.R66G;ENSG00000134490:ENST00000578520:exon3:c.A196G:p.R66G;ENSG00000134490:ENST00000582336:exon3:c.A196G:p.R66G;ENSG00000134490:ENST00000577531:exon3:c.A197G:p.K66R;ENSG00000134490:ENST00000482411:exon2:c.A149G:p.K50R;ENSG00000134490:ENST00000581444:exon3:c.A196G:p.R66G;ENSG00000134490:ENST00000497608:exon3:c.A196G:p.R66G;ENSG00000134490:ENST00000542162:exon3:c.A196G:p.R66G;ENSG00000134490:ENST00000473688:exon3:c.A196G:p.R66G;ENSG00000134490:ENST00000580025:exon3:c.A196G:p.R66G;	0.999851852476642	0.982
18	21001332	T	G	18	23421368	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon3:c.A196C:p.R66R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon3:c.A197C:p.K66T;ENSG00000134490:ENST00000482411:exon2:c.A149C:p.K50T;	0.995759120300744	0.818
18	21001333	T	A	18	23421369	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon3:c.A195T:p.S65S;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000577531:exon3:c.A196T:p.K66X;ENSG00000134490:ENST00000482411:exon2:c.A148T:p.K50X;	0.408942679880841	0.568
18	21001333	T	C	18	23421369	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon3:c.A195G:p.S65S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon3:c.A196G:p.K66E;ENSG00000134490:ENST00000482411:exon2:c.A148G:p.K50E;	2.8108664290118E-4	0.078
18	21001333	T	G	18	23421369	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon3:c.A195C:p.S65S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon3:c.A196C:p.K66Q;ENSG00000134490:ENST00000482411:exon2:c.A148C:p.K50Q;	2.43503771863451E-5	0.016
18	21001407	A	C	18	23421443	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon3:c.T121G:p.W41G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon3:c.T121G:p.W41G;ENSG00000134490:ENST00000578520:exon3:c.T121G:p.W41G;ENSG00000134490:ENST00000582336:exon3:c.T121G:p.W41G;ENSG00000134490:ENST00000577531:exon3:c.T122G:p.V41G;ENSG00000134490:ENST00000482411:exon2:c.T74G:p.V25G;ENSG00000134490:ENST00000581444:exon3:c.T121G:p.W41G;ENSG00000134490:ENST00000497608:exon3:c.T121G:p.W41G;ENSG00000134490:ENST00000542162:exon3:c.T121G:p.W41G;ENSG00000134490:ENST00000473688:exon3:c.T121G:p.W41G;ENSG00000134490:ENST00000580025:exon3:c.T121G:p.W41G;	0.026001342284266	0.124
18	21001407	A	G	18	23421443	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon3:c.T121C:p.W41R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon3:c.T121C:p.W41R;ENSG00000134490:ENST00000578520:exon3:c.T121C:p.W41R;ENSG00000134490:ENST00000582336:exon3:c.T121C:p.W41R;ENSG00000134490:ENST00000577531:exon3:c.T122C:p.V41A;ENSG00000134490:ENST00000482411:exon2:c.T74C:p.V25A;ENSG00000134490:ENST00000581444:exon3:c.T121C:p.W41R;ENSG00000134490:ENST00000497608:exon3:c.T121C:p.W41R;ENSG00000134490:ENST00000542162:exon3:c.T121C:p.W41R;ENSG00000134490:ENST00000473688:exon3:c.T121C:p.W41R;ENSG00000134490:ENST00000580025:exon3:c.T121C:p.W41R;	0.0641835011322003	0.242
18	21001407	A	T	18	23421443	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon3:c.T121A:p.W41R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon3:c.T121A:p.W41R;ENSG00000134490:ENST00000578520:exon3:c.T121A:p.W41R;ENSG00000134490:ENST00000582336:exon3:c.T121A:p.W41R;ENSG00000134490:ENST00000577531:exon3:c.T122A:p.V41E;ENSG00000134490:ENST00000482411:exon2:c.T74A:p.V25E;ENSG00000134490:ENST00000581444:exon3:c.T121A:p.W41R;ENSG00000134490:ENST00000497608:exon3:c.T121A:p.W41R;ENSG00000134490:ENST00000542162:exon3:c.T121A:p.W41R;ENSG00000134490:ENST00000473688:exon3:c.T121A:p.W41R;ENSG00000134490:ENST00000580025:exon3:c.T121A:p.W41R;	0.0301094130922487	0.204
18	21001408	C	A	18	23421444	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon3:c.G120T:p.G40G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon3:c.G121T:p.V41L;ENSG00000134490:ENST00000482411:exon2:c.G73T:p.V25L;	0.922630181839764	0.63
18	21001408	C	G	18	23421444	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon3:c.G120C:p.G40G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon3:c.G121C:p.V41L;ENSG00000134490:ENST00000482411:exon2:c.G73C:p.V25L;	0.720647625374149	0.612
18	21001408	C	T	18	23421444	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon3:c.G120A:p.G40G;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon3:c.G121A:p.V41M;ENSG00000134490:ENST00000482411:exon2:c.G73A:p.V25M;	0.527204008108879	0.436
18	21001409	C	A	18	23421445	y	y	splicing	TMEM241(NM_032933:exon4:c.120-1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.120-1G>T;ENST00000473688:exon4:c.120-1G>T;ENST00000383233:exon4:c.120-1G>T;ENST00000542162:exon4:c.120-1G>T;ENST00000578520:exon4:c.120-1G>T;ENST00000482411:exon3:c.73-1G>T;ENST00000497608:exon4:c.120-1G>T;ENST00000577531:exon4:c.121-1G>T;ENST00000582336:exon4:c.120-1G>T;ENST00000580025:exon4:c.120-1G>T)	.	.	0.999985532734767	0.938
18	21001409	C	G	18	23421445	y	y	splicing	TMEM241(NM_032933:exon4:c.120-1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.120-1G>C;ENST00000473688:exon4:c.120-1G>C;ENST00000383233:exon4:c.120-1G>C;ENST00000542162:exon4:c.120-1G>C;ENST00000578520:exon4:c.120-1G>C;ENST00000482411:exon3:c.73-1G>C;ENST00000497608:exon4:c.120-1G>C;ENST00000577531:exon4:c.121-1G>C;ENST00000582336:exon4:c.120-1G>C;ENST00000580025:exon4:c.120-1G>C)	.	.	0.999985532734767	0.938
18	21001409	C	T	18	23421445	y	y	splicing	TMEM241(NM_032933:exon4:c.120-1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.120-1G>A;ENST00000473688:exon4:c.120-1G>A;ENST00000383233:exon4:c.120-1G>A;ENST00000542162:exon4:c.120-1G>A;ENST00000578520:exon4:c.120-1G>A;ENST00000482411:exon3:c.73-1G>A;ENST00000497608:exon4:c.120-1G>A;ENST00000577531:exon4:c.121-1G>A;ENST00000582336:exon4:c.120-1G>A;ENST00000580025:exon4:c.120-1G>A)	.	.	0.999985532734767	0.938
18	21001410	T	A	18	23421446	y	y	splicing	TMEM241(NM_032933:exon4:c.120-2A>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.120-2A>T;ENST00000473688:exon4:c.120-2A>T;ENST00000383233:exon4:c.120-2A>T;ENST00000542162:exon4:c.120-2A>T;ENST00000578520:exon4:c.120-2A>T;ENST00000482411:exon3:c.73-2A>T;ENST00000497608:exon4:c.120-2A>T;ENST00000577531:exon4:c.121-2A>T;ENST00000582336:exon4:c.120-2A>T;ENST00000580025:exon4:c.120-2A>T)	.	.	0.999988247793601	0.928
18	21001410	T	C	18	23421446	y	y	splicing	TMEM241(NM_032933:exon4:c.120-2A>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.120-2A>G;ENST00000473688:exon4:c.120-2A>G;ENST00000383233:exon4:c.120-2A>G;ENST00000542162:exon4:c.120-2A>G;ENST00000578520:exon4:c.120-2A>G;ENST00000482411:exon3:c.73-2A>G;ENST00000497608:exon4:c.120-2A>G;ENST00000577531:exon4:c.121-2A>G;ENST00000582336:exon4:c.120-2A>G;ENST00000580025:exon4:c.120-2A>G)	.	.	0.999988247793601	0.926
18	21001410	T	G	18	23421446	y	y	splicing	TMEM241(NM_032933:exon4:c.120-2A>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon4:c.120-2A>C;ENST00000473688:exon4:c.120-2A>C;ENST00000383233:exon4:c.120-2A>C;ENST00000542162:exon4:c.120-2A>C;ENST00000578520:exon4:c.120-2A>C;ENST00000482411:exon3:c.73-2A>C;ENST00000497608:exon4:c.120-2A>C;ENST00000577531:exon4:c.121-2A>C;ENST00000582336:exon4:c.120-2A>C;ENST00000580025:exon4:c.120-2A>C)	.	.	0.999988247793601	0.926
18	21001411	G	A	18	23421447	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00153059354450835	0.166
18	21001411	G	C	18	23421447	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99164357269708	0.704
18	21001411	G	T	18	23421447	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0666937721116021	0.312
18	21001412	G	A	18	23421448	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.94416882180594E-5	0.02
18	21001412	G	C	18	23421448	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	6.65673786274239E-5	0.0
18	21001412	G	T	18	23421448	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.26388389667344E-5	0.002
18	21001413	A	C	18	23421449	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00179248453218117	0.294
18	21001413	A	G	18	23421449	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00136884426759081	0.052
18	21001413	A	T	18	23421449	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0014534266282664	0.224
18	21001414	A	C	18	23421450	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0937003346647005	0.436
18	21001414	A	G	18	23421450	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0147283921083834	0.318
18	21001414	A	T	18	23421450	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.053991101480726	0.428
18	21001415	A	C	18	23421451	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.38027061475703E-4	0.056
18	21001415	A	G	18	23421451	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.97814713579363E-4	0.002
18	21001415	A	T	18	23421451	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.72548023707441E-4	0.03
18	21001416	G	A	18	23421452	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	5.66780932826097E-5	0.002
18	21001416	G	C	18	23421452	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.47545055784949E-4	0.032
18	21001416	G	T	18	23421452	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.51925820236826E-4	0.044
18	21001417	G	A	18	23421453	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.47153622541314E-4	0.006
18	21001417	G	C	18	23421453	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00213620835533847	0.046
18	21001417	G	T	18	23421453	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00707929948805018	0.142
18	21001418	A	C	18	23421454	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00207538808583196	0.174
18	21001418	A	G	18	23421454	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.35936678987858E-4	0.008
18	21001418	A	T	18	23421454	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00252524723664468	0.15
18	21001419	C	A	18	23421455	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.55131159469559E-5	0.016
18	21001419	C	G	18	23421455	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.35023048417044E-4	0.022
18	21001419	C	T	18	23421455	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.77607616674633E-4	0.02
18	21001420	A	C	18	23421456	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	4.7087953419102E-4	0.066
18	21001420	A	G	18	23421456	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.95775212415249E-4	0.022
18	21001420	A	T	18	23421456	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996118864558476	0.902
18	21010587	A	C	18	23430623	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.05406042111167E-4	0.0
18	21010587	A	G	18	23430623	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00116374254486973	0.004
18	21010587	A	T	18	23430623	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00116374254486973	0.02
18	21010588	T	A	18	23430624	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.204475305385453	0.302
18	21010588	T	C	18	23430624	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0785226508821392	0.266
18	21010588	T	G	18	23430624	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.073866101532437	0.36
18	21010589	A	C	18	23430625	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.961355459766046	0.674
18	21010589	A	G	18	23430625	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.912855201547925	0.59
18	21010589	A	T	18	23430625	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.976557970634185	0.728
18	21010590	C	A	18	23430626	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999334285945858	0.866
18	21010590	C	G	18	23430626	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999693012406298	0.99
18	21010590	C	T	18	23430626	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999612808559099	0.962
18	21010591	T	A	18	23430627	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.991968107174128	0.848
18	21010591	T	C	18	23430627	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996550305945465	0.854
18	21010591	T	G	18	23430627	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.978498171141799	0.668
18	21010592	C	A	18	23430628	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.917825423394327	0.63
18	21010592	C	G	18	23430628	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.95576688236184	0.696
18	21010592	C	T	18	23430628	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	2.84044086715269E-4	0.01
18	21010593	A	C	18	23430629	y	y	splicing	TMEM241(NM_032933:exon3:c.119+2T>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.119+2T>G;ENST00000473688:exon3:c.119+2T>G;ENST00000477053:exon3:c.119+2T>G;ENST00000383233:exon3:c.119+2T>G;ENST00000460322:exon3:c.119+2T>G;ENST00000542162:exon3:c.119+2T>G;ENST00000578520:exon3:c.119+2T>G;ENST00000497608:exon3:c.119+2T>G;ENST00000577531:exon3:c.120+2T>G;ENST00000582336:exon3:c.119+2T>G;ENST00000580025:exon3:c.119+2T>G;ENST00000399707:exon3:c.119+2T>G)	.	.	0.999989917668626	0.928
18	21010593	A	G	18	23430629	y	y	splicing	TMEM241(NM_032933:exon3:c.119+2T>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.119+2T>C;ENST00000473688:exon3:c.119+2T>C;ENST00000477053:exon3:c.119+2T>C;ENST00000383233:exon3:c.119+2T>C;ENST00000460322:exon3:c.119+2T>C;ENST00000542162:exon3:c.119+2T>C;ENST00000578520:exon3:c.119+2T>C;ENST00000497608:exon3:c.119+2T>C;ENST00000577531:exon3:c.120+2T>C;ENST00000582336:exon3:c.119+2T>C;ENST00000580025:exon3:c.119+2T>C;ENST00000399707:exon3:c.119+2T>C)	.	.	0.999927254940125	0.868
18	21010593	A	T	18	23430629	y	y	splicing	TMEM241(NM_032933:exon3:c.119+2T>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.119+2T>A;ENST00000473688:exon3:c.119+2T>A;ENST00000477053:exon3:c.119+2T>A;ENST00000383233:exon3:c.119+2T>A;ENST00000460322:exon3:c.119+2T>A;ENST00000542162:exon3:c.119+2T>A;ENST00000578520:exon3:c.119+2T>A;ENST00000497608:exon3:c.119+2T>A;ENST00000577531:exon3:c.120+2T>A;ENST00000582336:exon3:c.119+2T>A;ENST00000580025:exon3:c.119+2T>A;ENST00000399707:exon3:c.119+2T>A)	.	.	0.999989917668626	0.928
18	21010594	C	A	18	23430630	y	y	splicing	TMEM241(NM_032933:exon3:c.119+1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.119+1G>T;ENST00000473688:exon3:c.119+1G>T;ENST00000477053:exon3:c.119+1G>T;ENST00000383233:exon3:c.119+1G>T;ENST00000460322:exon3:c.119+1G>T;ENST00000542162:exon3:c.119+1G>T;ENST00000578520:exon3:c.119+1G>T;ENST00000497608:exon3:c.119+1G>T;ENST00000577531:exon3:c.120+1G>T;ENST00000582336:exon3:c.119+1G>T;ENST00000580025:exon3:c.119+1G>T;ENST00000399707:exon3:c.119+1G>T)	.	.	0.999986675681007	0.934
18	21010594	C	G	18	23430630	y	y	splicing	TMEM241(NM_032933:exon3:c.119+1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.119+1G>C;ENST00000473688:exon3:c.119+1G>C;ENST00000477053:exon3:c.119+1G>C;ENST00000383233:exon3:c.119+1G>C;ENST00000460322:exon3:c.119+1G>C;ENST00000542162:exon3:c.119+1G>C;ENST00000578520:exon3:c.119+1G>C;ENST00000497608:exon3:c.119+1G>C;ENST00000577531:exon3:c.120+1G>C;ENST00000582336:exon3:c.119+1G>C;ENST00000580025:exon3:c.119+1G>C;ENST00000399707:exon3:c.119+1G>C)	.	.	0.999986675681007	0.934
18	21010594	C	T	18	23430630	y	y	splicing	TMEM241(NM_032933:exon3:c.119+1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.119+1G>A;ENST00000473688:exon3:c.119+1G>A;ENST00000477053:exon3:c.119+1G>A;ENST00000383233:exon3:c.119+1G>A;ENST00000460322:exon3:c.119+1G>A;ENST00000542162:exon3:c.119+1G>A;ENST00000578520:exon3:c.119+1G>A;ENST00000497608:exon3:c.119+1G>A;ENST00000577531:exon3:c.120+1G>A;ENST00000582336:exon3:c.119+1G>A;ENST00000580025:exon3:c.119+1G>A;ENST00000399707:exon3:c.119+1G>A)	.	.	0.999986675681007	0.934
18	21010595	C	A	18	23430631	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.G119T:p.G40V;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000578520:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000460322:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000582336:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000577531:exon2:c.G120T:p.R40S;ENSG00000134490:ENST00000581444:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000497608:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000542162:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000473688:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000399707:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000477053:exon2:c.G119T:p.G40V;ENSG00000134490:ENST00000580025:exon2:c.G119T:p.G40V;	0.984102778612369	0.884
18	21010595	C	G	18	23430631	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.G119C:p.G40A;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000578520:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000460322:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000582336:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000577531:exon2:c.G120C:p.R40S;ENSG00000134490:ENST00000581444:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000497608:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000542162:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000473688:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000399707:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000477053:exon2:c.G119C:p.G40A;ENSG00000134490:ENST00000580025:exon2:c.G119C:p.G40A;	0.994042154555468	0.804
18	21010595	C	T	18	23430631	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.G119A:p.G40E;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000578520:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000460322:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000582336:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000581444:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000497608:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000542162:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000473688:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000399707:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000477053:exon2:c.G119A:p.G40E;ENSG00000134490:ENST00000580025:exon2:c.G119A:p.G40E;	0.999357249621491	0.936
18	21010596	C	A	18	23430632	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.G118T:p.G40W;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000399707:exon2:c.G118T:p.G40X;ENSG00000134490:ENST00000477053:exon2:c.G118T:p.G40X;	0.991210648698064	0.868
18	21010596	C	G	18	23430632	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.G118C:p.G40R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000578520:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000460322:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000582336:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000577531:exon2:c.G119C:p.R40T;ENSG00000134490:ENST00000581444:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000497608:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000542162:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000473688:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000399707:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000477053:exon2:c.G118C:p.G40R;ENSG00000134490:ENST00000580025:exon2:c.G118C:p.G40R;	0.306810788836416	0.274
18	21010596	C	T	18	23430632	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.G118A:p.G40R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000578520:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000460322:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000582336:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000577531:exon2:c.G119A:p.R40K;ENSG00000134490:ENST00000581444:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000497608:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000542162:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000473688:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000399707:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000477053:exon2:c.G118A:p.G40R;ENSG00000134490:ENST00000580025:exon2:c.G118A:p.G40R;	0.176186112239617	0.208
18	21010597	T	A	18	23430633	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.A117T:p.Q39H;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000578520:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000460322:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000582336:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000577531:exon2:c.A118T:p.R40W;ENSG00000134490:ENST00000581444:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000497608:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000542162:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000473688:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000399707:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000477053:exon2:c.A117T:p.Q39H;ENSG00000134490:ENST00000580025:exon2:c.A117T:p.Q39H;	0.185588450427855	0.256
18	21010597	T	C	18	23430633	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon2:c.A117G:p.Q39Q;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon2:c.A118G:p.R40G;	0.0130808302326548	0.2
18	21010597	T	G	18	23430633	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.A117C:p.Q39H;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000578520:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000460322:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000582336:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000581444:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000497608:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000542162:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000473688:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000399707:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000477053:exon2:c.A117C:p.Q39H;ENSG00000134490:ENST00000580025:exon2:c.A117C:p.Q39H;	0.00616960297866932	0.048
18	21010640	T	A	18	23430676	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.A74T:p.Y25F;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000578520:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000460322:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000582336:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000581444:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000497608:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000542162:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000473688:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000399707:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000477053:exon2:c.A74T:p.Y25F;ENSG00000134490:ENST00000580025:exon2:c.A74T:p.Y25F;	3.61998903253127E-5	0.002
18	21010640	T	C	18	23430676	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.A74G:p.Y25C;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000578520:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000460322:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000582336:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000581444:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000497608:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000542162:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000473688:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000399707:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000477053:exon2:c.A74G:p.Y25C;ENSG00000134490:ENST00000580025:exon2:c.A74G:p.Y25C;	1.22219732332262E-4	0.08
18	21010640	T	G	18	23430676	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.A74C:p.Y25S;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000578520:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000460322:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000582336:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000581444:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000497608:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000542162:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000473688:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000399707:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000477053:exon2:c.A74C:p.Y25S;ENSG00000134490:ENST00000580025:exon2:c.A74C:p.Y25S;	2.8494830951056E-4	0.036
18	21010641	A	C	18	23430677	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.T73G:p.Y25D;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000578520:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000460322:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000582336:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000577531:exon2:c.T74G:p.V25G;ENSG00000134490:ENST00000581444:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000497608:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000542162:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000473688:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000399707:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000477053:exon2:c.T73G:p.Y25D;ENSG00000134490:ENST00000580025:exon2:c.T73G:p.Y25D;	0.00199962187624105	0.074
18	21010641	A	G	18	23430677	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.T73C:p.Y25H;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000578520:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000460322:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000582336:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000577531:exon2:c.T74C:p.V25A;ENSG00000134490:ENST00000581444:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000497608:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000542162:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000473688:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000399707:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000477053:exon2:c.T73C:p.Y25H;ENSG00000134490:ENST00000580025:exon2:c.T73C:p.Y25H;	0.00693715943738714	0.038
18	21010641	A	T	18	23430677	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon2:c.T73A:p.Y25N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000578520:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000460322:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000582336:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000577531:exon2:c.T74A:p.V25E;ENSG00000134490:ENST00000581444:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000497608:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000542162:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000473688:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000399707:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000477053:exon2:c.T73A:p.Y25N;ENSG00000134490:ENST00000580025:exon2:c.T73A:p.Y25N;	0.00127007062830949	0.024
18	21010642	C	A	18	23430678	y	y	splicing	TMEM241(NM_032933:exon3:c.73-1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.73-1G>T;ENST00000473688:exon3:c.73-1G>T;ENST00000477053:exon3:c.73-1G>T;ENST00000383233:exon3:c.73-1G>T;ENST00000460322:exon3:c.73-1G>T;ENST00000542162:exon3:c.73-1G>T;ENST00000578520:exon3:c.73-1G>T;ENST00000497608:exon3:c.73-1G>T;ENST00000577531:exon3:c.74-1G>T;ENST00000582336:exon3:c.73-1G>T;ENST00000580025:exon3:c.73-1G>T;ENST00000399707:exon3:c.73-1G>T)	.	.	0.999986675681007	0.946
18	21010642	C	G	18	23430678	y	y	splicing	TMEM241(NM_032933:exon3:c.73-1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.73-1G>C;ENST00000473688:exon3:c.73-1G>C;ENST00000477053:exon3:c.73-1G>C;ENST00000383233:exon3:c.73-1G>C;ENST00000460322:exon3:c.73-1G>C;ENST00000542162:exon3:c.73-1G>C;ENST00000578520:exon3:c.73-1G>C;ENST00000497608:exon3:c.73-1G>C;ENST00000577531:exon3:c.74-1G>C;ENST00000582336:exon3:c.73-1G>C;ENST00000580025:exon3:c.73-1G>C;ENST00000399707:exon3:c.73-1G>C)	.	.	0.999986675681007	0.946
18	21010642	C	T	18	23430678	y	y	splicing	TMEM241(NM_032933:exon3:c.73-1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.73-1G>A;ENST00000473688:exon3:c.73-1G>A;ENST00000477053:exon3:c.73-1G>A;ENST00000383233:exon3:c.73-1G>A;ENST00000460322:exon3:c.73-1G>A;ENST00000542162:exon3:c.73-1G>A;ENST00000578520:exon3:c.73-1G>A;ENST00000497608:exon3:c.73-1G>A;ENST00000577531:exon3:c.74-1G>A;ENST00000582336:exon3:c.73-1G>A;ENST00000580025:exon3:c.73-1G>A;ENST00000399707:exon3:c.73-1G>A)	.	.	0.999986675681007	0.946
18	21010643	T	A	18	23430679	y	y	splicing	TMEM241(NM_032933:exon3:c.73-2A>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.73-2A>T;ENST00000473688:exon3:c.73-2A>T;ENST00000477053:exon3:c.73-2A>T;ENST00000383233:exon3:c.73-2A>T;ENST00000460322:exon3:c.73-2A>T;ENST00000542162:exon3:c.73-2A>T;ENST00000578520:exon3:c.73-2A>T;ENST00000497608:exon3:c.73-2A>T;ENST00000577531:exon3:c.74-2A>T;ENST00000582336:exon3:c.73-2A>T;ENST00000580025:exon3:c.73-2A>T;ENST00000399707:exon3:c.73-2A>T)	.	.	0.999989917668626	0.94
18	21010643	T	C	18	23430679	y	y	splicing	TMEM241(NM_032933:exon3:c.73-2A>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.73-2A>G;ENST00000473688:exon3:c.73-2A>G;ENST00000477053:exon3:c.73-2A>G;ENST00000383233:exon3:c.73-2A>G;ENST00000460322:exon3:c.73-2A>G;ENST00000542162:exon3:c.73-2A>G;ENST00000578520:exon3:c.73-2A>G;ENST00000497608:exon3:c.73-2A>G;ENST00000577531:exon3:c.74-2A>G;ENST00000582336:exon3:c.73-2A>G;ENST00000580025:exon3:c.73-2A>G;ENST00000399707:exon3:c.73-2A>G)	.	.	0.999989917668626	0.94
18	21010643	T	G	18	23430679	y	y	splicing	TMEM241(NM_032933:exon3:c.73-2A>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon3:c.73-2A>C;ENST00000473688:exon3:c.73-2A>C;ENST00000477053:exon3:c.73-2A>C;ENST00000383233:exon3:c.73-2A>C;ENST00000460322:exon3:c.73-2A>C;ENST00000542162:exon3:c.73-2A>C;ENST00000578520:exon3:c.73-2A>C;ENST00000497608:exon3:c.73-2A>C;ENST00000577531:exon3:c.74-2A>C;ENST00000582336:exon3:c.73-2A>C;ENST00000580025:exon3:c.73-2A>C;ENST00000399707:exon3:c.73-2A>C)	.	.	0.999989917668626	0.94
18	21010644	G	A	18	23430680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.420449500803645	0.258
18	21010644	G	C	18	23430680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999872610157105	0.972
18	21010644	G	T	18	23430680	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.996688430893905	0.824
18	21010645	A	C	18	23430681	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00137648265481178	0.226
18	21010645	A	G	18	23430681	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.0891594783827E-4	0.142
18	21010645	A	T	18	23430681	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	8.98035645577356E-5	0.038
18	21010646	A	C	18	23430682	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998248397707619	0.908
18	21010646	A	G	18	23430682	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.402232899484483	0.456
18	21010646	A	T	18	23430682	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997900971813876	0.916
18	21010647	A	C	18	23430683	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.991409641123675	0.886
18	21010647	A	G	18	23430683	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0231510072139713	0.31
18	21010647	A	T	18	23430683	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.994931412219519	0.884
18	21010648	A	C	18	23430684	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.955245668735164	0.594
18	21010648	A	G	18	23430684	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0155007513254247	0.218
18	21010648	A	T	18	23430684	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.947662265916653	0.708
18	21010649	A	C	18	23430685	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.824186021161736	0.676
18	21010649	A	G	18	23430685	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00335283683845806	0.184
18	21010649	A	T	18	23430685	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.979269703180442	0.764
18	21010650	C	A	18	23430686	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.044564305723368	0.272
18	21010650	C	G	18	23430686	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0198583645303434	0.258
18	21010650	C	T	18	23430686	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0234201379355892	0.19
18	21010651	A	C	18	23430687	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998231789000118	0.912
18	21010651	A	G	18	23430687	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0716663850911701	0.324
18	21010651	A	T	18	23430687	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99998468355627	0.97
18	21010652	A	C	18	23430688	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999172761509934	0.818
18	21010652	A	G	18	23430688	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.884532671375372	0.47
18	21010652	A	T	18	23430688	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999488597534014	0.938
18	21010653	A	C	18	23430689	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.998746575582777	0.932
18	21010653	A	G	18	23430689	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.22986444957543	0.38
18	21010653	A	T	18	23430689	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999024114672408	0.944
18	21017737	C	A	18	23437773	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.908319202453202	0.682
18	21017737	C	G	18	23437773	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.840274703639774	0.676
18	21017737	C	T	18	23437773	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.952391170177592	0.7
18	21017738	C	A	18	23437774	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	1.15405828790216E-4	0.0
18	21017738	C	G	18	23437774	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.90870480892739E-4	0.006
18	21017738	C	T	18	23437774	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	3.90870480892739E-4	0.0
18	21017739	C	A	18	23437775	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.00460996347769058	0.124
18	21017739	C	G	18	23437775	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0391580749860465	0.254
18	21017739	C	T	18	23437775	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.0283369233320189	0.28
18	21017740	C	A	18	23437776	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.997743657086858	0.804
18	21017740	C	G	18	23437776	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.985770830257657	0.69
18	21017740	C	T	18	23437776	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99625592214901	0.816
18	21017741	T	A	18	23437777	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.99959054373837	0.882
18	21017741	T	C	18	23437777	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999679118803976	0.908
18	21017741	T	G	18	23437777	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.999415332674012	0.912
18	21017742	C	A	18	23437778	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.979118405729832	0.778
18	21017742	C	G	18	23437778	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.994450699873622	0.882
18	21017742	C	T	18	23437778	y	y	intronic	TMEM241	.	.	intronic	ENSG00000134490	.	.	0.141081106141555	0.356
18	21017743	A	C	18	23437779	y	y	splicing	TMEM241(NM_032933:exon2:c.72+2T>G)	.	.	splicing	ENSG00000134490(ENST00000581444:exon2:c.72+2T>G;ENST00000473688:exon2:c.72+2T>G;ENST00000477053:exon2:c.72+2T>G;ENST00000383233:exon2:c.72+2T>G;ENST00000460322:exon2:c.72+2T>G;ENST00000542162:exon2:c.72+2T>G;ENST00000578520:exon2:c.72+2T>G;ENST00000482411:exon2:c.72+2T>G;ENST00000497608:exon2:c.72+2T>G;ENST00000577531:exon2:c.73+2T>G;ENST00000582336:exon2:c.72+2T>G;ENST00000580025:exon2:c.72+2T>G;ENST00000399707:exon2:c.72+2T>G)	.	.	0.999988247793601	0.932
18	21017743	A	G	18	23437779	y	y	splicing	TMEM241(NM_032933:exon2:c.72+2T>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon2:c.72+2T>C;ENST00000473688:exon2:c.72+2T>C;ENST00000477053:exon2:c.72+2T>C;ENST00000383233:exon2:c.72+2T>C;ENST00000460322:exon2:c.72+2T>C;ENST00000542162:exon2:c.72+2T>C;ENST00000578520:exon2:c.72+2T>C;ENST00000482411:exon2:c.72+2T>C;ENST00000497608:exon2:c.72+2T>C;ENST00000577531:exon2:c.73+2T>C;ENST00000582336:exon2:c.72+2T>C;ENST00000580025:exon2:c.72+2T>C;ENST00000399707:exon2:c.72+2T>C)	.	.	0.999929727175276	0.87
18	21017743	A	T	18	23437779	y	y	splicing	TMEM241(NM_032933:exon2:c.72+2T>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon2:c.72+2T>A;ENST00000473688:exon2:c.72+2T>A;ENST00000477053:exon2:c.72+2T>A;ENST00000383233:exon2:c.72+2T>A;ENST00000460322:exon2:c.72+2T>A;ENST00000542162:exon2:c.72+2T>A;ENST00000578520:exon2:c.72+2T>A;ENST00000482411:exon2:c.72+2T>A;ENST00000497608:exon2:c.72+2T>A;ENST00000577531:exon2:c.73+2T>A;ENST00000582336:exon2:c.72+2T>A;ENST00000580025:exon2:c.72+2T>A;ENST00000399707:exon2:c.72+2T>A)	.	.	0.999988247793601	0.932
18	21017744	C	A	18	23437780	y	y	splicing	TMEM241(NM_032933:exon2:c.72+1G>T)	.	.	splicing	ENSG00000134490(ENST00000581444:exon2:c.72+1G>T;ENST00000473688:exon2:c.72+1G>T;ENST00000477053:exon2:c.72+1G>T;ENST00000383233:exon2:c.72+1G>T;ENST00000460322:exon2:c.72+1G>T;ENST00000542162:exon2:c.72+1G>T;ENST00000578520:exon2:c.72+1G>T;ENST00000482411:exon2:c.72+1G>T;ENST00000497608:exon2:c.72+1G>T;ENST00000577531:exon2:c.73+1G>T;ENST00000582336:exon2:c.72+1G>T;ENST00000580025:exon2:c.72+1G>T;ENST00000399707:exon2:c.72+1G>T)	.	.	0.999990361384395	0.938
18	21017744	C	G	18	23437780	y	y	splicing	TMEM241(NM_032933:exon2:c.72+1G>C)	.	.	splicing	ENSG00000134490(ENST00000581444:exon2:c.72+1G>C;ENST00000473688:exon2:c.72+1G>C;ENST00000477053:exon2:c.72+1G>C;ENST00000383233:exon2:c.72+1G>C;ENST00000460322:exon2:c.72+1G>C;ENST00000542162:exon2:c.72+1G>C;ENST00000578520:exon2:c.72+1G>C;ENST00000482411:exon2:c.72+1G>C;ENST00000497608:exon2:c.72+1G>C;ENST00000577531:exon2:c.73+1G>C;ENST00000582336:exon2:c.72+1G>C;ENST00000580025:exon2:c.72+1G>C;ENST00000399707:exon2:c.72+1G>C)	.	.	0.999990361384395	0.938
18	21017744	C	T	18	23437780	y	y	splicing	TMEM241(NM_032933:exon2:c.72+1G>A)	.	.	splicing	ENSG00000134490(ENST00000581444:exon2:c.72+1G>A;ENST00000473688:exon2:c.72+1G>A;ENST00000477053:exon2:c.72+1G>A;ENST00000383233:exon2:c.72+1G>A;ENST00000460322:exon2:c.72+1G>A;ENST00000542162:exon2:c.72+1G>A;ENST00000578520:exon2:c.72+1G>A;ENST00000482411:exon2:c.72+1G>A;ENST00000497608:exon2:c.72+1G>A;ENST00000577531:exon2:c.73+1G>A;ENST00000582336:exon2:c.72+1G>A;ENST00000580025:exon2:c.72+1G>A;ENST00000399707:exon2:c.72+1G>A)	.	.	0.999990361384395	0.938
18	21017745	C	A	18	23437781	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.G72T:p.K24N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000578520:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000460322:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000582336:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000577531:exon1:c.G73T:p.V25L;ENSG00000134490:ENST00000482411:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000581444:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000497608:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000542162:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000473688:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000399707:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000477053:exon1:c.G72T:p.K24N;ENSG00000134490:ENST00000580025:exon1:c.G72T:p.K24N;	0.999982899388877	0.994
18	21017745	C	G	18	23437781	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.G72C:p.K24N;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000578520:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000460322:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000582336:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000577531:exon1:c.G73C:p.V25L;ENSG00000134490:ENST00000482411:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000581444:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000497608:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000542162:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000473688:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000399707:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000477053:exon1:c.G72C:p.K24N;ENSG00000134490:ENST00000580025:exon1:c.G72C:p.K24N;	0.999991342339774	0.976
18	21017745	C	T	18	23437781	y	y	exonic	TMEM241	synonymous SNV	TMEM241:NM_032933:exon1:c.G72A:p.K24K;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000577531:exon1:c.G73A:p.V25I;	0.999957214998773	0.974
18	21017746	T	A	18	23437782	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.A71T:p.K24M;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000578520:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000460322:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000582336:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000577531:exon1:c.A72T:p.Q24H;ENSG00000134490:ENST00000482411:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000581444:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000497608:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000542162:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000473688:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000399707:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000477053:exon1:c.A71T:p.K24M;ENSG00000134490:ENST00000580025:exon1:c.A71T:p.K24M;	0.995244965174467	0.946
18	21017746	T	C	18	23437782	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.A71G:p.K24R;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000578520:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000460322:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000582336:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000482411:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000581444:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000497608:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000542162:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000473688:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000399707:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000477053:exon1:c.A71G:p.K24R;ENSG00000134490:ENST00000580025:exon1:c.A71G:p.K24R;	0.999132457030841	0.95
18	21017746	T	G	18	23437782	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.A71C:p.K24T;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000578520:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000460322:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000582336:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000577531:exon1:c.A72C:p.Q24H;ENSG00000134490:ENST00000482411:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000581444:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000497608:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000542162:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000473688:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000399707:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000477053:exon1:c.A71C:p.K24T;ENSG00000134490:ENST00000580025:exon1:c.A71C:p.K24T;	0.977410802412606	0.918
18	21017747	T	A	18	23437783	y	y	exonic	TMEM241	stopgain SNV	TMEM241:NM_032933:exon1:c.A70T:p.K24X;	exonic	ENSG00000134490	stopgain SNV	ENSG00000134490:ENST00000383233:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000578520:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000460322:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000582336:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000482411:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000581444:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000497608:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000542162:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000473688:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000399707:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000477053:exon1:c.A70T:p.K24X;ENSG00000134490:ENST00000580025:exon1:c.A70T:p.K24X;	0.972340933097083	0.742
18	21017747	T	C	18	23437783	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.A70G:p.K24E;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000578520:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000460322:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000582336:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000577531:exon1:c.A71G:p.Q24R;ENSG00000134490:ENST00000482411:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000581444:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000497608:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000542162:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000473688:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000399707:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000477053:exon1:c.A70G:p.K24E;ENSG00000134490:ENST00000580025:exon1:c.A70G:p.K24E;	0.471124433909925	0.45
18	21017747	T	G	18	23437783	y	y	exonic	TMEM241	nonsynonymous SNV	TMEM241:NM_032933:exon1:c.A70C:p.K24Q;	exonic	ENSG00000134490	nonsynonymous SNV	ENSG00000134490:ENST00000383233:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000578520:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000460322:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000582336:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000577531:exon1:c.A71C:p.Q24P;ENSG00000134490:ENST00000482411:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000581444:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000497608:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000542162:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000473688:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000399707:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000477053:exon1:c.A70C:p.K24Q;ENSG00000134490:ENST00000580025:exon1:c.A70C:p.K24Q;	0.774005463588018	0.518
18	21033464	A	C	18	23453500	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon1:c.A61C:p.K21Q;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon1:c.A61C:p.K21Q;ENSG00000101782:ENST00000339486:exon1:c.A61C:p.K21Q;ENSG00000101782:ENST00000581585:exon1:c.A61C:p.K21Q;	0.0569877964631077	0.402
18	21033464	A	G	18	23453500	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon1:c.A61G:p.K21E;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon1:c.A61G:p.K21E;ENSG00000101782:ENST00000339486:exon1:c.A61G:p.K21E;ENSG00000101782:ENST00000581585:exon1:c.A61G:p.K21E;	0.286009482025298	0.392
18	21033464	A	T	18	23453500	y	y	exonic	RIOK3	stopgain SNV	RIOK3:NM_003831:exon1:c.A61T:p.K21X;	exonic	ENSG00000101782	stopgain SNV	ENSG00000101782:ENST00000577501:exon1:c.A61T:p.K21X;ENSG00000101782:ENST00000339486:exon1:c.A61T:p.K21X;ENSG00000101782:ENST00000581585:exon1:c.A61T:p.K21X;	0.940997651370099	0.596
18	21033465	A	C	18	23453501	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon1:c.A62C:p.K21T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon1:c.A62C:p.K21T;ENSG00000101782:ENST00000339486:exon1:c.A62C:p.K21T;ENSG00000101782:ENST00000581585:exon1:c.A62C:p.K21T;	0.96737450216637	0.706
18	21033465	A	G	18	23453501	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon1:c.A62G:p.K21R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon1:c.A62G:p.K21R;ENSG00000101782:ENST00000339486:exon1:c.A62G:p.K21R;ENSG00000101782:ENST00000581585:exon1:c.A62G:p.K21R;	0.982938568462158	0.764
18	21033465	A	T	18	23453501	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon1:c.A62T:p.K21M;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon1:c.A62T:p.K21M;ENSG00000101782:ENST00000339486:exon1:c.A62T:p.K21M;ENSG00000101782:ENST00000581585:exon1:c.A62T:p.K21M;	0.970101198416336	0.638
18	21033466	G	A	18	23453502	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon1:c.G63A:p.K21K;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon1:c.G63A:p.K21K;ENSG00000101782:ENST00000339486:exon1:c.G63A:p.K21K;ENSG00000101782:ENST00000581585:exon1:c.G63A:p.K21K;	0.879937912243737	0.782
18	21033466	G	C	18	23453502	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon1:c.G63C:p.K21N;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon1:c.G63C:p.K21N;ENSG00000101782:ENST00000339486:exon1:c.G63C:p.K21N;ENSG00000101782:ENST00000581585:exon1:c.G63C:p.K21N;	0.945457033172085	0.752
18	21033466	G	T	18	23453502	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon1:c.G63T:p.K21N;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon1:c.G63T:p.K21N;ENSG00000101782:ENST00000339486:exon1:c.G63T:p.K21N;ENSG00000101782:ENST00000581585:exon1:c.G63T:p.K21N;	0.928922149903159	0.754
18	21033467	G	A	18	23453503	y	y	splicing	RIOK3(NM_003831:exon1:c.63+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon1:c.63+1G>A;ENST00000581585:exon1:c.63+1G>A;ENST00000577501:exon1:c.63+1G>A)	.	.	0.999985532734767	0.936
18	21033467	G	C	18	23453503	y	y	splicing	RIOK3(NM_003831:exon1:c.63+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon1:c.63+1G>C;ENST00000581585:exon1:c.63+1G>C;ENST00000577501:exon1:c.63+1G>C)	.	.	0.999985532734767	0.936
18	21033467	G	T	18	23453503	y	y	splicing	RIOK3(NM_003831:exon1:c.63+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon1:c.63+1G>T;ENST00000581585:exon1:c.63+1G>T;ENST00000577501:exon1:c.63+1G>T)	.	.	0.999985532734767	0.936
18	21033468	T	A	18	23453504	y	y	splicing	RIOK3(NM_003831:exon1:c.63+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon1:c.63+2T>A;ENST00000581585:exon1:c.63+2T>A;ENST00000577501:exon1:c.63+2T>A)	.	.	0.999988247793601	0.928
18	21033468	T	C	18	23453504	y	y	splicing	RIOK3(NM_003831:exon1:c.63+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon1:c.63+2T>C;ENST00000581585:exon1:c.63+2T>C;ENST00000577501:exon1:c.63+2T>C)	.	.	0.992783534660112	0.632
18	21033468	T	G	18	23453504	y	y	splicing	RIOK3(NM_003831:exon1:c.63+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon1:c.63+2T>G;ENST00000581585:exon1:c.63+2T>G;ENST00000577501:exon1:c.63+2T>G)	.	.	0.999988247793601	0.928
18	21033469	A	C	18	23453505	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.378843612142989	0.474
18	21033469	A	G	18	23453505	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.97978614788681E-4	0.008
18	21033469	A	T	18	23453505	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.161348963570564	0.422
18	21033470	A	C	18	23453506	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0769971267553009	0.276
18	21033470	A	G	18	23453506	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.13379657079195	0.304
18	21033470	A	T	18	23453506	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.120960347640913	0.234
18	21033471	G	A	18	23453507	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.824119454861361	0.626
18	21033471	G	C	18	23453507	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.857131118432521	0.608
18	21033471	G	T	18	23453507	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.934193636056614	0.672
18	21033472	T	A	18	23453508	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00175451457890492	0.18
18	21033472	T	C	18	23453508	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0017635079297368	0.17
18	21033472	T	G	18	23453508	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.03741114442271E-4	0.098
18	21033473	G	A	18	23453509	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.81980434129717E-4	0.04
18	21033473	G	C	18	23453509	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.02971596476764E-4	0.034
18	21033473	G	T	18	23453509	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.00423232749726E-4	0.042
18	21033474	G	A	18	23453510	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.5259513294942E-4	0.014
18	21033474	G	C	18	23453510	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.09349544230799E-4	0.004
18	21033474	G	T	18	23453510	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.09349544230799E-4	0.004
18	21042916	C	A	18	23462952	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.82301414894585E-5	0.0
18	21042916	C	G	18	23462952	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.02301715613715E-5	0.02
18	21042916	C	T	18	23462952	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.67815305417146E-5	0.002
18	21042917	T	A	18	23462953	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.18064327142306E-4	0.1
18	21042917	T	C	18	23462953	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.10289384205587E-5	0.02
18	21042917	T	G	18	23462953	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.0725242355823E-5	0.124
18	21042918	T	A	18	23462954	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.42631360420175E-5	0.014
18	21042918	T	C	18	23462954	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.75459856909116E-5	0.002
18	21042918	T	G	18	23462954	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.87639713682917E-5	0.044
18	21042919	T	A	18	23462955	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.85682380621212E-4	0.128
18	21042919	T	C	18	23462955	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.07030557884135E-5	0.006
18	21042919	T	G	18	23462955	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.80812505616699E-4	0.112
18	21042920	T	A	18	23462956	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.24097592982443E-4	0.026
18	21042920	T	C	18	23462956	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.92602788290152E-5	0.002
18	21042920	T	G	18	23462956	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.85145978081041E-4	0.056
18	21042921	T	A	18	23462957	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.82780721345865E-5	0.042
18	21042921	T	C	18	23462957	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.25911895200593E-5	0.002
18	21042921	T	G	18	23462957	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.71617291705942E-5	0.034
18	21042922	T	A	18	23462958	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.96514757277621E-5	0.012
18	21042922	T	C	18	23462958	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.44742432503564E-6	0.004
18	21042922	T	G	18	23462958	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.98028513018538E-5	0.038
18	21042923	C	A	18	23462959	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.18715215803374E-5	0.008
18	21042923	C	G	18	23462959	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.12478534208218E-5	0.02
18	21042923	C	T	18	23462959	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.48704017304088E-5	0.004
18	21042924	A	C	18	23462960	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.2815177618127E-5	0.0
18	21042924	A	G	18	23462960	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.39678625619633E-5	0.002
18	21042924	A	T	18	23462960	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.9658462360659E-5	0.002
18	21042925	T	A	18	23462961	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.68710109292682E-4	0.054
18	21042925	T	C	18	23462961	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.98675651510444E-5	0.0
18	21042925	T	G	18	23462961	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.801947227029008	0.59
18	21042926	A	C	18	23462962	y	y	splicing	RIOK3(NM_003831:exon2:c.64-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.64-2A>C;ENST00000581585:exon2:c.64-2A>C;ENST00000577501:exon2:c.64-2A>C)	.	.	0.999972871252391	0.868
18	21042926	A	G	18	23462962	y	y	splicing	RIOK3(NM_003831:exon2:c.64-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.64-2A>G;ENST00000581585:exon2:c.64-2A>G;ENST00000577501:exon2:c.64-2A>G)	.	.	0.999972155025474	0.822
18	21042926	A	T	18	23462962	y	y	splicing	RIOK3(NM_003831:exon2:c.64-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.64-2A>T;ENST00000581585:exon2:c.64-2A>T;ENST00000577501:exon2:c.64-2A>T)	.	.	0.999971317418422	0.896
18	21042927	G	A	18	23462963	y	y	splicing	RIOK3(NM_003831:exon2:c.64-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.64-1G>A;ENST00000581585:exon2:c.64-1G>A;ENST00000577501:exon2:c.64-1G>A)	.	.	0.999955326288872	0.906
18	21042927	G	C	18	23462963	y	y	splicing	RIOK3(NM_003831:exon2:c.64-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.64-1G>C;ENST00000581585:exon2:c.64-1G>C;ENST00000577501:exon2:c.64-1G>C)	.	.	0.999973328973086	0.904
18	21042927	G	T	18	23462963	y	y	splicing	RIOK3(NM_003831:exon2:c.64-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.64-1G>T;ENST00000581585:exon2:c.64-1G>T;ENST00000577501:exon2:c.64-1G>T)	.	.	0.999973328973086	0.906
18	21042928	T	A	18	23462964	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.T64A:p.C22S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.T64A:p.C22S;ENSG00000101782:ENST00000339486:exon2:c.T64A:p.C22S;ENSG00000101782:ENST00000581585:exon2:c.T64A:p.C22S;	7.41597318321088E-4	0.014
18	21042928	T	C	18	23462964	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.T64C:p.C22R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.T64C:p.C22R;ENSG00000101782:ENST00000339486:exon2:c.T64C:p.C22R;ENSG00000101782:ENST00000581585:exon2:c.T64C:p.C22R;	0.00463437069666829	0.022
18	21042928	T	G	18	23462964	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.T64G:p.C22G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.T64G:p.C22G;ENSG00000101782:ENST00000339486:exon2:c.T64G:p.C22G;ENSG00000101782:ENST00000581585:exon2:c.T64G:p.C22G;	0.00182392474334696	0.042
18	21042929	G	A	18	23462965	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.G65A:p.C22Y;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.G65A:p.C22Y;ENSG00000101782:ENST00000339486:exon2:c.G65A:p.C22Y;ENSG00000101782:ENST00000581585:exon2:c.G65A:p.C22Y;	0.0542102242005342	0.132
18	21042929	G	C	18	23462965	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.G65C:p.C22S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.G65C:p.C22S;ENSG00000101782:ENST00000339486:exon2:c.G65C:p.C22S;ENSG00000101782:ENST00000581585:exon2:c.G65C:p.C22S;	0.00194149160243317	0.098
18	21042929	G	T	18	23462965	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.G65T:p.C22F;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.G65T:p.C22F;ENSG00000101782:ENST00000339486:exon2:c.G65T:p.C22F;ENSG00000101782:ENST00000581585:exon2:c.G65T:p.C22F;	0.00573489680739601	0.054
18	21043041	T	A	18	23463077	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon2:c.T177A:p.V59V;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.T177A:p.V59V;ENSG00000101782:ENST00000339486:exon2:c.T177A:p.V59V;ENSG00000101782:ENST00000581585:exon2:c.T177A:p.V59V;	2.77218972805219E-4	0.012
18	21043041	T	C	18	23463077	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon2:c.T177C:p.V59V;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.T177C:p.V59V;ENSG00000101782:ENST00000339486:exon2:c.T177C:p.V59V;ENSG00000101782:ENST00000581585:exon2:c.T177C:p.V59V;	1.84934328173969E-4	0.004
18	21043041	T	G	18	23463077	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon2:c.T177G:p.V59V;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.T177G:p.V59V;ENSG00000101782:ENST00000339486:exon2:c.T177G:p.V59V;ENSG00000101782:ENST00000581585:exon2:c.T177G:p.V59V;	4.07674154610736E-4	0.026
18	21043042	G	A	18	23463078	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.G178A:p.A60T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.G178A:p.A60T;ENSG00000101782:ENST00000339486:exon2:c.G178A:p.A60T;ENSG00000101782:ENST00000581585:exon2:c.G178A:p.A60T;	2.20217253678225E-4	0.062
18	21043042	G	C	18	23463078	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.G178C:p.A60P;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.G178C:p.A60P;ENSG00000101782:ENST00000339486:exon2:c.G178C:p.A60P;ENSG00000101782:ENST00000581585:exon2:c.G178C:p.A60P;	2.50102490819971E-4	0.002
18	21043042	G	T	18	23463078	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.G178T:p.A60S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.G178T:p.A60S;ENSG00000101782:ENST00000339486:exon2:c.G178T:p.A60S;ENSG00000101782:ENST00000581585:exon2:c.G178T:p.A60S;	2.33999378609655E-4	0.006
18	21043043	C	A	18	23463079	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.C179A:p.A60D;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.C179A:p.A60D;ENSG00000101782:ENST00000339486:exon2:c.C179A:p.A60D;ENSG00000101782:ENST00000581585:exon2:c.C179A:p.A60D;	9.18618147042571E-5	0.014
18	21043043	C	G	18	23463079	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.C179G:p.A60G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.C179G:p.A60G;ENSG00000101782:ENST00000339486:exon2:c.C179G:p.A60G;ENSG00000101782:ENST00000581585:exon2:c.C179G:p.A60G;	2.65756014871528E-5	0.192
18	21043043	C	T	18	23463079	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon2:c.C179T:p.A60V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon2:c.C179T:p.A60V;ENSG00000101782:ENST00000339486:exon2:c.C179T:p.A60V;ENSG00000101782:ENST00000581585:exon2:c.C179T:p.A60V;	0.00291835040575435	0.212
18	21043044	G	A	18	23463080	y	y	splicing	RIOK3(NM_003831:exon2:c.179+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.179+1G>A;ENST00000581585:exon2:c.179+1G>A;ENST00000577501:exon2:c.179+1G>A)	.	.	0.999989072007339	0.932
18	21043044	G	C	18	23463080	y	y	splicing	RIOK3(NM_003831:exon2:c.179+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.179+1G>C;ENST00000581585:exon2:c.179+1G>C;ENST00000577501:exon2:c.179+1G>C)	.	.	0.999989072007339	0.932
18	21043044	G	T	18	23463080	y	y	splicing	RIOK3(NM_003831:exon2:c.179+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.179+1G>T;ENST00000581585:exon2:c.179+1G>T;ENST00000577501:exon2:c.179+1G>T)	.	.	0.999989072007339	0.932
18	21043045	T	A	18	23463081	y	y	splicing	RIOK3(NM_003831:exon2:c.179+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.179+2T>A;ENST00000581585:exon2:c.179+2T>A;ENST00000577501:exon2:c.179+2T>A)	.	.	0.999988247793601	0.928
18	21043045	T	C	18	23463081	y	y	splicing	RIOK3(NM_003831:exon2:c.179+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.179+2T>C;ENST00000581585:exon2:c.179+2T>C;ENST00000577501:exon2:c.179+2T>C)	.	.	0.991245725732999	0.644
18	21043045	T	G	18	23463081	y	y	splicing	RIOK3(NM_003831:exon2:c.179+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon2:c.179+2T>G;ENST00000581585:exon2:c.179+2T>G;ENST00000577501:exon2:c.179+2T>G)	.	.	0.999988247793601	0.928
18	21043046	A	C	18	23463082	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999790640341527	0.942
18	21043046	A	G	18	23463082	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.611403015798394	0.532
18	21043046	A	T	18	23463082	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999865000851841	0.97
18	21043047	A	C	18	23463083	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.979209170433884	0.638
18	21043047	A	G	18	23463083	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.988550746078204	0.782
18	21043047	A	T	18	23463083	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.898912398510692	0.674
18	21043048	G	A	18	23463084	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999956932479578	0.996
18	21043048	G	C	18	23463084	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999974352491758	0.968
18	21043048	G	T	18	23463084	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999964249864602	0.982
18	21043049	T	A	18	23463085	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.99439611253976	0.814
18	21043049	T	C	18	23463085	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997806329996539	0.972
18	21043049	T	G	18	23463085	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.995247630960782	0.914
18	21043050	A	C	18	23463086	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.47480053014676E-4	0.004
18	21043050	A	G	18	23463086	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.47480053014676E-4	0.006
18	21043050	A	T	18	23463086	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.57991583187971E-4	0.014
18	21043051	A	C	18	23463087	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00450720264287219	0.018
18	21043051	A	G	18	23463087	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00450720264287219	0.014
18	21043051	A	T	18	23463087	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00443455228320439	0.02
18	21043919	T	A	18	23463955	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998940781011744	0.916
18	21043919	T	C	18	23463955	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.568982546227844	0.416
18	21043919	T	G	18	23463955	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998312483976906	0.858
18	21043920	A	C	18	23463956	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0046737128358186	0.222
18	21043920	A	G	18	23463956	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00119725944806709	0.15
18	21043920	A	T	18	23463956	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0096364965764345	0.458
18	21043921	T	A	18	23463957	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.996481142930496	0.88
18	21043921	T	C	18	23463957	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00922312569706882	0.186
18	21043921	T	G	18	23463957	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999975932758376	0.97
18	21043922	T	A	18	23463958	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.913067209102254	0.814
18	21043922	T	C	18	23463958	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00956008560060056	0.134
18	21043922	T	G	18	23463958	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.933420636824129	0.856
18	21043923	T	A	18	23463959	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.988881736650242	0.818
18	21043923	T	C	18	23463959	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0336625617184901	0.16
18	21043923	T	G	18	23463959	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.95907864377555	0.708
18	21043924	T	A	18	23463960	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999927802304569	0.96
18	21043924	T	C	18	23463960	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.108039078306913	0.342
18	21043924	T	G	18	23463960	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997029972871096	0.728
18	21043925	G	A	18	23463961	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0146081170846876	0.066
18	21043925	G	C	18	23463961	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00278636406316223	0.074
18	21043925	G	T	18	23463961	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0012362580995928	0.05
18	21043926	A	C	18	23463962	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.58491318987152E-4	0.028
18	21043926	A	G	18	23463962	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00214616194203931	0.062
18	21043926	A	T	18	23463962	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.44961826755741E-4	0.122
18	21043927	A	C	18	23463963	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00315093230572122	0.028
18	21043927	A	G	18	23463963	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997735393481607	0.946
18	21043927	A	T	18	23463963	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00511300245577226	0.076
18	21043928	T	A	18	23463964	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.158646197831176	0.454
18	21043928	T	C	18	23463964	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.57139257541718E-5	0.032
18	21043928	T	G	18	23463964	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.970426314142278	0.7
18	21043929	A	C	18	23463965	y	y	splicing	RIOK3(NM_003831:exon3:c.180-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.180-2A>C;ENST00000577501:exon3:c.180-2A>C)	.	.	0.999991057698317	0.924
18	21043929	A	G	18	23463965	y	y	splicing	RIOK3(NM_003831:exon3:c.180-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.180-2A>G;ENST00000577501:exon3:c.180-2A>G)	.	.	0.999991057698317	0.924
18	21043929	A	T	18	23463965	y	y	splicing	RIOK3(NM_003831:exon3:c.180-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.180-2A>T;ENST00000577501:exon3:c.180-2A>T)	.	.	0.999991057698317	0.922
18	21043930	G	A	18	23463966	y	y	splicing	RIOK3(NM_003831:exon3:c.180-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.180-1G>A;ENST00000577501:exon3:c.180-1G>A)	.	.	0.999992460661115	0.92
18	21043930	G	C	18	23463966	y	y	splicing	RIOK3(NM_003831:exon3:c.180-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.180-1G>C;ENST00000577501:exon3:c.180-1G>C)	.	.	0.999992460661115	0.92
18	21043930	G	T	18	23463966	y	y	splicing	RIOK3(NM_003831:exon3:c.180-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.180-1G>T;ENST00000577501:exon3:c.180-1G>T)	.	.	0.999992460661115	0.92
18	21043931	T	A	18	23463967	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon3:c.T180A:p.A60A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.T180A:p.A60A;ENSG00000101782:ENST00000339486:exon3:c.T180A:p.A60A;	2.35483318684886E-4	0.046
18	21043931	T	C	18	23463967	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon3:c.T180C:p.A60A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.T180C:p.A60A;ENSG00000101782:ENST00000339486:exon3:c.T180C:p.A60A;	2.78605542771857E-5	0.034
18	21043931	T	G	18	23463967	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon3:c.T180G:p.A60A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.T180G:p.A60A;ENSG00000101782:ENST00000339486:exon3:c.T180G:p.A60A;	0.0012319370119305	0.144
18	21043932	G	A	18	23463968	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.G181A:p.V61I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.G181A:p.V61I;ENSG00000101782:ENST00000339486:exon3:c.G181A:p.V61I;	0.00233058924391308	0.096
18	21043932	G	C	18	23463968	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.G181C:p.V61L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.G181C:p.V61L;ENSG00000101782:ENST00000339486:exon3:c.G181C:p.V61L;	1.26160580179621E-4	0.034
18	21043932	G	T	18	23463968	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.G181T:p.V61F;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.G181T:p.V61F;ENSG00000101782:ENST00000339486:exon3:c.G181T:p.V61F;	0.00216731118687055	0.11
18	21044074	A	C	18	23464110	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.A323C:p.K108T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.A323C:p.K108T;ENSG00000101782:ENST00000339486:exon3:c.A323C:p.K108T;ENSG00000101782:ENST00000581585:exon3:c.A275C:p.K92T;	0.822603709119951	0.784
18	21044074	A	G	18	23464110	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.A323G:p.K108R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.A323G:p.K108R;ENSG00000101782:ENST00000339486:exon3:c.A323G:p.K108R;ENSG00000101782:ENST00000581585:exon3:c.A275G:p.K92R;	0.754460976305397	0.474
18	21044074	A	T	18	23464110	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.A323T:p.K108I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.A323T:p.K108I;ENSG00000101782:ENST00000339486:exon3:c.A323T:p.K108I;ENSG00000101782:ENST00000581585:exon3:c.A275T:p.K92I;	0.998913526223019	0.868
18	21044075	A	C	18	23464111	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.A324C:p.K108N;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.A324C:p.K108N;ENSG00000101782:ENST00000339486:exon3:c.A324C:p.K108N;ENSG00000101782:ENST00000581585:exon3:c.A276C:p.K92N;	0.999955820148849	1.0
18	21044075	A	G	18	23464111	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon3:c.A324G:p.K108K;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.A324G:p.K108K;ENSG00000101782:ENST00000339486:exon3:c.A324G:p.K108K;ENSG00000101782:ENST00000581585:exon3:c.A276G:p.K92K;	0.999227021447194	0.99
18	21044075	A	T	18	23464111	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.A324T:p.K108N;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.A324T:p.K108N;ENSG00000101782:ENST00000339486:exon3:c.A324T:p.K108N;ENSG00000101782:ENST00000581585:exon3:c.A276T:p.K92N;	0.999976877607648	1.0
18	21044076	G	A	18	23464112	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.G325A:p.V109I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.G325A:p.V109I;ENSG00000101782:ENST00000339486:exon3:c.G325A:p.V109I;ENSG00000101782:ENST00000581585:exon3:c.G277A:p.V93I;	0.999994233162681	0.996
18	21044076	G	C	18	23464112	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.G325C:p.V109L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.G325C:p.V109L;ENSG00000101782:ENST00000339486:exon3:c.G325C:p.V109L;ENSG00000101782:ENST00000581585:exon3:c.G277C:p.V93L;	0.999997360428448	1.0
18	21044076	G	T	18	23464112	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon3:c.G325T:p.V109F;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon3:c.G325T:p.V109F;ENSG00000101782:ENST00000339486:exon3:c.G325T:p.V109F;ENSG00000101782:ENST00000581585:exon3:c.G277T:p.V93F;	0.99999174582164	0.988
18	21044077	G	A	18	23464113	y	y	splicing	RIOK3(NM_003831:exon3:c.325+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.325+1G>A;ENST00000581585:exon3:c.277+1G>A;ENST00000577501:exon3:c.325+1G>A)	.	.	0.999990361384395	0.944
18	21044077	G	C	18	23464113	y	y	splicing	RIOK3(NM_003831:exon3:c.325+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.325+1G>C;ENST00000581585:exon3:c.277+1G>C;ENST00000577501:exon3:c.325+1G>C)	.	.	0.999990361384395	0.944
18	21044077	G	T	18	23464113	y	y	splicing	RIOK3(NM_003831:exon3:c.325+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.325+1G>T;ENST00000581585:exon3:c.277+1G>T;ENST00000577501:exon3:c.325+1G>T)	.	.	0.999990361384395	0.944
18	21044078	T	A	18	23464114	y	y	splicing	RIOK3(NM_003831:exon3:c.325+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.325+2T>A;ENST00000581585:exon3:c.277+2T>A;ENST00000577501:exon3:c.325+2T>A)	.	.	0.999988247793601	0.936
18	21044078	T	C	18	23464114	y	y	splicing	RIOK3(NM_003831:exon3:c.325+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.325+2T>C;ENST00000581585:exon3:c.277+2T>C;ENST00000577501:exon3:c.325+2T>C)	.	.	0.992577803696025	0.68
18	21044078	T	G	18	23464114	y	y	splicing	RIOK3(NM_003831:exon3:c.325+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon3:c.325+2T>G;ENST00000581585:exon3:c.277+2T>G;ENST00000577501:exon3:c.325+2T>G)	.	.	0.999988247793601	0.936
18	21044079	A	C	18	23464115	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999913231172286	0.966
18	21044079	A	G	18	23464115	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999810455835327	0.974
18	21044079	A	T	18	23464115	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999908972547502	0.964
18	21044080	T	A	18	23464116	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.6813188377795E-4	0.016
18	21044080	T	C	18	23464116	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.66581078915909E-4	0.04
18	21044080	T	G	18	23464116	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.80365188357858E-4	0.036
18	21044081	T	A	18	23464117	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.25187572842373E-4	0.006
18	21044081	T	C	18	23464117	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.30368980155744E-4	0.004
18	21044081	T	G	18	23464117	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.11042537159662E-4	0.044
18	21044082	A	C	18	23464118	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.48081941893589E-4	0.038
18	21044082	A	G	18	23464118	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.95910731475728E-5	0.0
18	21044082	A	T	18	23464118	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.52374963623354E-5	0.024
18	21044083	T	A	18	23464119	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.36350367993022E-4	0.002
18	21044083	T	C	18	23464119	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.06336217016447E-5	0.008
18	21044083	T	G	18	23464119	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.06336217016447E-5	0.008
18	21044084	A	C	18	23464120	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.00787505764898E-5	0.0
18	21044084	A	G	18	23464120	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.86597937135435E-5	0.0
18	21044084	A	T	18	23464120	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.86597937135435E-5	0.0
18	21044158	T	A	18	23464194	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.958751792026835	0.684
18	21044158	T	C	18	23464194	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.636678808568143	0.502
18	21044158	T	G	18	23464194	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.968299516177451	0.642
18	21044159	T	A	18	23464195	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999985889219228	0.986
18	21044159	T	C	18	23464195	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.960113533977	0.53
18	21044159	T	G	18	23464195	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.983687722831304	0.764
18	21044160	G	A	18	23464196	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00103752865464991	0.178
18	21044160	G	C	18	23464196	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.25665577753723E-4	0.022
18	21044160	G	T	18	23464196	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.98577668269746E-5	0.012
18	21044161	C	A	18	23464197	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00121024229817671	0.156
18	21044161	C	G	18	23464197	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00194562772524801	0.148
18	21044161	C	T	18	23464197	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.08182853727331E-4	0.008
18	21044162	T	A	18	23464198	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.42982258815639E-4	0.122
18	21044162	T	C	18	23464198	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.54188264276131E-5	0.008
18	21044162	T	G	18	23464198	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00117897619256832	0.118
18	21044163	T	A	18	23464199	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0387054968599495	0.206
18	21044163	T	C	18	23464199	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.97340345836982E-4	0.032
18	21044163	T	G	18	23464199	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0574647086026335	0.18
18	21044164	C	A	18	23464200	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00104313582960479	0.238
18	21044164	C	G	18	23464200	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00251549160350291	0.236
18	21044164	C	T	18	23464200	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.8707813823793E-4	0.112
18	21044165	T	A	18	23464201	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.340927539743592	0.514
18	21044165	T	C	18	23464201	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0063912134588205	0.098
18	21044165	T	G	18	23464201	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.779338837384052	0.534
18	21044166	T	A	18	23464202	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.46456913988519E-4	0.044
18	21044166	T	C	18	23464202	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.35778657490636E-4	0.094
18	21044166	T	G	18	23464202	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00584806125682361	0.112
18	21044167	A	C	18	23464203	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.35145202110206E-4	0.052
18	21044167	A	G	18	23464203	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.925295683055464	0.5
18	21044167	A	T	18	23464203	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.56147760338811E-4	0.04
18	21044168	A	C	18	23464204	y	y	splicing	RIOK3(NM_003831:exon4:c.326-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.326-2A>C;ENST00000581585:exon4:c.278-2A>C;ENST00000577501:exon4:c.326-2A>C)	.	.	0.999990764389106	0.946
18	21044168	A	G	18	23464204	y	y	splicing	RIOK3(NM_003831:exon4:c.326-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.326-2A>G;ENST00000581585:exon4:c.278-2A>G;ENST00000577501:exon4:c.326-2A>G)	.	.	0.999990764389106	0.946
18	21044168	A	T	18	23464204	y	y	splicing	RIOK3(NM_003831:exon4:c.326-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.326-2A>T;ENST00000581585:exon4:c.278-2A>T;ENST00000577501:exon4:c.326-2A>T)	.	.	0.999990764389106	0.946
18	21044169	G	A	18	23464205	y	y	splicing	RIOK3(NM_003831:exon4:c.326-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.326-1G>A;ENST00000581585:exon4:c.278-1G>A;ENST00000577501:exon4:c.326-1G>A)	.	.	0.999992425382947	0.944
18	21044169	G	C	18	23464205	y	y	splicing	RIOK3(NM_003831:exon4:c.326-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.326-1G>C;ENST00000581585:exon4:c.278-1G>C;ENST00000577501:exon4:c.326-1G>C)	.	.	0.999992425382947	0.944
18	21044169	G	T	18	23464205	y	y	splicing	RIOK3(NM_003831:exon4:c.326-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.326-1G>T;ENST00000581585:exon4:c.278-1G>T;ENST00000577501:exon4:c.326-1G>T)	.	.	0.999992425382947	0.944
18	21044170	T	A	18	23464206	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.T326A:p.V109D;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.T326A:p.V109D;ENSG00000101782:ENST00000339486:exon4:c.T326A:p.V109D;ENSG00000101782:ENST00000581585:exon4:c.T278A:p.V93D;	0.720529420118802	0.676
18	21044170	T	C	18	23464206	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.T326C:p.V109A;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.T326C:p.V109A;ENSG00000101782:ENST00000339486:exon4:c.T326C:p.V109A;ENSG00000101782:ENST00000581585:exon4:c.T278C:p.V93A;	0.972063660961167	0.762
18	21044170	T	G	18	23464206	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.T326G:p.V109G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.T326G:p.V109G;ENSG00000101782:ENST00000339486:exon4:c.T326G:p.V109G;ENSG00000101782:ENST00000581585:exon4:c.T278G:p.V93G;	0.816752642207431	0.614
18	21044171	T	A	18	23464207	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon4:c.T327A:p.V109V;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.T327A:p.V109V;ENSG00000101782:ENST00000339486:exon4:c.T327A:p.V109V;ENSG00000101782:ENST00000581585:exon4:c.T279A:p.V93V;	0.00841769453355663	0.212
18	21044171	T	C	18	23464207	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon4:c.T327C:p.V109V;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.T327C:p.V109V;ENSG00000101782:ENST00000339486:exon4:c.T327C:p.V109V;ENSG00000101782:ENST00000581585:exon4:c.T279C:p.V93V;	0.0289380291901876	0.144
18	21044171	T	G	18	23464207	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon4:c.T327G:p.V109V;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.T327G:p.V109V;ENSG00000101782:ENST00000339486:exon4:c.T327G:p.V109V;ENSG00000101782:ENST00000581585:exon4:c.T279G:p.V93V;	0.00510483926839348	0.088
18	21044275	C	A	18	23464311	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.C431A:p.P144Q;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.C431A:p.P144Q;ENSG00000101782:ENST00000339486:exon4:c.C431A:p.P144Q;ENSG00000101782:ENST00000581585:exon4:c.C383A:p.P128Q;	0.047656636203518	0.15
18	21044275	C	G	18	23464311	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.C431G:p.P144R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.C431G:p.P144R;ENSG00000101782:ENST00000339486:exon4:c.C431G:p.P144R;ENSG00000101782:ENST00000581585:exon4:c.C383G:p.P128R;	0.503287172784325	0.42
18	21044275	C	T	18	23464311	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.C431T:p.P144L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.C431T:p.P144L;ENSG00000101782:ENST00000339486:exon4:c.C431T:p.P144L;ENSG00000101782:ENST00000581585:exon4:c.C383T:p.P128L;	0.999053246611137	0.85
18	21044276	A	C	18	23464312	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon4:c.A432C:p.P144P;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.A432C:p.P144P;ENSG00000101782:ENST00000339486:exon4:c.A432C:p.P144P;ENSG00000101782:ENST00000581585:exon4:c.A384C:p.P128P;	0.999510045866852	0.994
18	21044276	A	G	18	23464312	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon4:c.A432G:p.P144P;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.A432G:p.P144P;ENSG00000101782:ENST00000339486:exon4:c.A432G:p.P144P;ENSG00000101782:ENST00000581585:exon4:c.A384G:p.P128P;	0.999310218198929	0.998
18	21044276	A	T	18	23464312	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon4:c.A432T:p.P144P;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.A432T:p.P144P;ENSG00000101782:ENST00000339486:exon4:c.A432T:p.P144P;ENSG00000101782:ENST00000581585:exon4:c.A384T:p.P128P;	0.999775836882349	0.976
18	21044277	G	A	18	23464313	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.G433A:p.A145T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.G433A:p.A145T;ENSG00000101782:ENST00000339486:exon4:c.G433A:p.A145T;ENSG00000101782:ENST00000581585:exon4:c.G385A:p.A129T;	0.999985749402206	1.0
18	21044277	G	C	18	23464313	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.G433C:p.A145P;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.G433C:p.A145P;ENSG00000101782:ENST00000339486:exon4:c.G433C:p.A145P;ENSG00000101782:ENST00000581585:exon4:c.G385C:p.A129P;	0.999996687773079	1.0
18	21044277	G	T	18	23464313	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon4:c.G433T:p.A145S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon4:c.G433T:p.A145S;ENSG00000101782:ENST00000339486:exon4:c.G433T:p.A145S;ENSG00000101782:ENST00000581585:exon4:c.G385T:p.A129S;	0.999983605566814	0.992
18	21044278	G	A	18	23464314	y	y	splicing	RIOK3(NM_003831:exon4:c.433+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.433+1G>A;ENST00000581585:exon4:c.385+1G>A;ENST00000577501:exon4:c.433+1G>A)	.	.	0.999990361384395	0.938
18	21044278	G	C	18	23464314	y	y	splicing	RIOK3(NM_003831:exon4:c.433+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.433+1G>C;ENST00000581585:exon4:c.385+1G>C;ENST00000577501:exon4:c.433+1G>C)	.	.	0.999990361384395	0.938
18	21044278	G	T	18	23464314	y	y	splicing	RIOK3(NM_003831:exon4:c.433+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.433+1G>T;ENST00000581585:exon4:c.385+1G>T;ENST00000577501:exon4:c.433+1G>T)	.	.	0.999990361384395	0.938
18	21044279	T	A	18	23464315	y	y	splicing	RIOK3(NM_003831:exon4:c.433+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.433+2T>A;ENST00000581585:exon4:c.385+2T>A;ENST00000577501:exon4:c.433+2T>A)	.	.	0.999988247793601	0.93
18	21044279	T	C	18	23464315	y	y	splicing	RIOK3(NM_003831:exon4:c.433+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.433+2T>C;ENST00000581585:exon4:c.385+2T>C;ENST00000577501:exon4:c.433+2T>C)	.	.	0.99231226973403	0.678
18	21044279	T	G	18	23464315	y	y	splicing	RIOK3(NM_003831:exon4:c.433+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon4:c.433+2T>G;ENST00000581585:exon4:c.385+2T>G;ENST00000577501:exon4:c.433+2T>G)	.	.	0.999988247793601	0.928
18	21044280	A	C	18	23464316	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999923874911498	0.942
18	21044280	A	G	18	23464316	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.996134964453995	0.918
18	21044280	A	T	18	23464316	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999958587022177	0.976
18	21044281	C	A	18	23464317	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.04553940713361E-5	0.028
18	21044281	C	G	18	23464317	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.25667619357792E-4	0.054
18	21044281	C	T	18	23464317	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.63484169039584E-4	0.038
18	21044282	C	A	18	23464318	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.02985657460649E-5	0.006
18	21044282	C	G	18	23464318	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.84287383642353E-4	0.014
18	21044282	C	T	18	23464318	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.9010219134031E-4	0.0
18	21044283	A	C	18	23464319	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.9218030384768E-5	0.068
18	21044283	A	G	18	23464319	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.52965565722887E-5	0.028
18	21044283	A	T	18	23464319	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.14193985136964E-5	0.04
18	21044284	A	C	18	23464320	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.87937566149215E-5	0.008
18	21044284	A	G	18	23464320	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.87937566149215E-5	0.008
18	21044284	A	T	18	23464320	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.87937566149215E-5	0.008
18	21044285	A	C	18	23464321	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.11776161574844E-5	0.0
18	21044285	A	G	18	23464321	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.50848005348234E-5	0.004
18	21044285	A	T	18	23464321	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.11776161574844E-5	0.0
18	21044471	A	C	18	23464507	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.29398918591477E-4	0.008
18	21044471	A	G	18	23464507	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.98517668957718E-4	0.018
18	21044471	A	T	18	23464507	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.7996852924328E-4	0.042
18	21044472	A	C	18	23464508	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.50523275471027E-4	0.01
18	21044472	A	G	18	23464508	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998516490058666	0.972
18	21044472	A	T	18	23464508	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.5415229627385E-4	0.124
18	21044473	T	A	18	23464509	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.933607779528485	0.666
18	21044473	T	C	18	23464509	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.181385267638823	0.282
18	21044473	T	G	18	23464509	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999961043493173	0.964
18	21044474	T	A	18	23464510	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.996012280741121	0.778
18	21044474	T	C	18	23464510	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.08575048195944E-4	0.006
18	21044474	T	G	18	23464510	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00951614870060205	0.224
18	21044475	G	A	18	23464511	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.36275238801697E-4	0.03
18	21044475	G	C	18	23464511	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.83643701966011E-5	0.022
18	21044475	G	T	18	23464511	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.83643701966011E-5	0.034
18	21044476	C	A	18	23464512	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00239660989215829	0.26
18	21044476	C	G	18	23464512	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00309931278758026	0.318
18	21044476	C	T	18	23464512	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.4942169709788E-5	0.022
18	21044477	C	A	18	23464513	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.120335703087983	0.5
18	21044477	C	G	18	23464513	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.184657454238407	0.53
18	21044477	C	T	18	23464513	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.65400826358334E-4	0.052
18	21044478	T	A	18	23464514	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.995169095598679	0.758
18	21044478	T	C	18	23464514	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.171239587662688	0.278
18	21044478	T	G	18	23464514	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.9993842675329	0.77
18	21044479	T	A	18	23464515	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00275705611542603	0.026
18	21044479	T	C	18	23464515	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.963713658625E-4	0.036
18	21044479	T	G	18	23464515	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.68649751648228E-4	0.108
18	21044480	T	A	18	23464516	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.894382015537163	0.586
18	21044480	T	C	18	23464516	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.33542580991684E-5	0.012
18	21044480	T	G	18	23464516	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999031312610253	0.864
18	21044481	A	C	18	23464517	y	y	splicing	RIOK3(NM_003831:exon5:c.434-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.434-2A>C;ENST00000581585:exon5:c.386-2A>C;ENST00000577501:exon5:c.434-2A>C)	.	.	0.999986741007567	0.94
18	21044481	A	G	18	23464517	y	y	splicing	RIOK3(NM_003831:exon5:c.434-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.434-2A>G;ENST00000581585:exon5:c.386-2A>G;ENST00000577501:exon5:c.434-2A>G)	.	.	0.999986741007567	0.94
18	21044481	A	T	18	23464517	y	y	splicing	RIOK3(NM_003831:exon5:c.434-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.434-2A>T;ENST00000581585:exon5:c.386-2A>T;ENST00000577501:exon5:c.434-2A>T)	.	.	0.999986741007567	0.94
18	21044482	G	A	18	23464518	y	y	splicing	RIOK3(NM_003831:exon5:c.434-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.434-1G>A;ENST00000581585:exon5:c.386-1G>A;ENST00000577501:exon5:c.434-1G>A)	.	.	0.999989125585301	0.94
18	21044482	G	C	18	23464518	y	y	splicing	RIOK3(NM_003831:exon5:c.434-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.434-1G>C;ENST00000581585:exon5:c.386-1G>C;ENST00000577501:exon5:c.434-1G>C)	.	.	0.999989125585301	0.94
18	21044482	G	T	18	23464518	y	y	splicing	RIOK3(NM_003831:exon5:c.434-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.434-1G>T;ENST00000581585:exon5:c.386-1G>T;ENST00000577501:exon5:c.434-1G>T)	.	.	0.999989125585301	0.94
18	21044483	C	A	18	23464519	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.C434A:p.A145E;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.C434A:p.A145E;ENSG00000101782:ENST00000339486:exon5:c.C434A:p.A145E;ENSG00000101782:ENST00000581585:exon5:c.C386A:p.A129E;	2.74649032755248E-4	0.044
18	21044483	C	G	18	23464519	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.C434G:p.A145G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.C434G:p.A145G;ENSG00000101782:ENST00000339486:exon5:c.C434G:p.A145G;ENSG00000101782:ENST00000581585:exon5:c.C386G:p.A129G;	0.0029418098668506	0.128
18	21044483	C	T	18	23464519	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.C434T:p.A145V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.C434T:p.A145V;ENSG00000101782:ENST00000339486:exon5:c.C434T:p.A145V;ENSG00000101782:ENST00000581585:exon5:c.C386T:p.A129V;	0.0405783043523173	0.476
18	21044484	A	C	18	23464520	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon5:c.A435C:p.A145A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A435C:p.A145A;ENSG00000101782:ENST00000339486:exon5:c.A435C:p.A145A;ENSG00000101782:ENST00000581585:exon5:c.A387C:p.A129A;	0.00162513474713386	0.08
18	21044484	A	G	18	23464520	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon5:c.A435G:p.A145A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A435G:p.A145A;ENSG00000101782:ENST00000339486:exon5:c.A435G:p.A145A;ENSG00000101782:ENST00000581585:exon5:c.A387G:p.A129A;	0.00114842708601589	0.026
18	21044484	A	T	18	23464520	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon5:c.A435T:p.A145A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A435T:p.A145A;ENSG00000101782:ENST00000339486:exon5:c.A435T:p.A145A;ENSG00000101782:ENST00000581585:exon5:c.A387T:p.A129A;	0.00197985794185738	0.122
18	21044590	A	C	18	23464626	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.A541C:p.N181H;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A541C:p.N181H;ENSG00000101782:ENST00000339486:exon5:c.A541C:p.N181H;ENSG00000101782:ENST00000581585:exon5:c.A493C:p.N165H;	4.24830550982095E-4	0.028
18	21044590	A	G	18	23464626	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.A541G:p.N181D;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A541G:p.N181D;ENSG00000101782:ENST00000339486:exon5:c.A541G:p.N181D;ENSG00000101782:ENST00000581585:exon5:c.A493G:p.N165D;	3.70052685626588E-4	0.036
18	21044590	A	T	18	23464626	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.A541T:p.N181Y;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A541T:p.N181Y;ENSG00000101782:ENST00000339486:exon5:c.A541T:p.N181Y;ENSG00000101782:ENST00000581585:exon5:c.A493T:p.N165Y;	0.216970565647781	0.426
18	21044591	A	C	18	23464627	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.A542C:p.N181T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A542C:p.N181T;ENSG00000101782:ENST00000339486:exon5:c.A542C:p.N181T;ENSG00000101782:ENST00000581585:exon5:c.A494C:p.N165T;	0.993202151893462	0.962
18	21044591	A	G	18	23464627	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.A542G:p.N181S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A542G:p.N181S;ENSG00000101782:ENST00000339486:exon5:c.A542G:p.N181S;ENSG00000101782:ENST00000581585:exon5:c.A494G:p.N165S;	0.12139292328716	0.306
18	21044591	A	T	18	23464627	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.A542T:p.N181I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.A542T:p.N181I;ENSG00000101782:ENST00000339486:exon5:c.A542T:p.N181I;ENSG00000101782:ENST00000581585:exon5:c.A494T:p.N165I;	0.99264877547643	0.928
18	21044592	T	A	18	23464628	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.T543A:p.N181K;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.T543A:p.N181K;ENSG00000101782:ENST00000339486:exon5:c.T543A:p.N181K;ENSG00000101782:ENST00000581585:exon5:c.T495A:p.N165K;	3.83490589884848E-4	0.002
18	21044592	T	C	18	23464628	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon5:c.T543C:p.N181N;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.T543C:p.N181N;ENSG00000101782:ENST00000339486:exon5:c.T543C:p.N181N;ENSG00000101782:ENST00000581585:exon5:c.T495C:p.N165N;	0.020731896202251	0.226
18	21044592	T	G	18	23464628	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon5:c.T543G:p.N181K;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon5:c.T543G:p.N181K;ENSG00000101782:ENST00000339486:exon5:c.T543G:p.N181K;ENSG00000101782:ENST00000581585:exon5:c.T495G:p.N165K;	2.0699213246259E-4	0.032
18	21044593	G	A	18	23464629	y	y	splicing	RIOK3(NM_003831:exon5:c.543+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.543+1G>A;ENST00000581585:exon5:c.495+1G>A;ENST00000577501:exon5:c.543+1G>A)	.	.	0.999990361384395	0.938
18	21044593	G	C	18	23464629	y	y	splicing	RIOK3(NM_003831:exon5:c.543+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.543+1G>C;ENST00000581585:exon5:c.495+1G>C;ENST00000577501:exon5:c.543+1G>C)	.	.	0.999990361384395	0.938
18	21044593	G	T	18	23464629	y	y	splicing	RIOK3(NM_003831:exon5:c.543+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.543+1G>T;ENST00000581585:exon5:c.495+1G>T;ENST00000577501:exon5:c.543+1G>T)	.	.	0.999990361384395	0.938
18	21044594	T	A	18	23464630	y	y	splicing	RIOK3(NM_003831:exon5:c.543+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.543+2T>A;ENST00000581585:exon5:c.495+2T>A;ENST00000577501:exon5:c.543+2T>A)	.	.	0.999988247793601	0.932
18	21044594	T	C	18	23464630	y	y	splicing	RIOK3(NM_003831:exon5:c.543+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.543+2T>C;ENST00000581585:exon5:c.495+2T>C;ENST00000577501:exon5:c.543+2T>C)	.	.	0.996388929962285	0.698
18	21044594	T	G	18	23464630	y	y	splicing	RIOK3(NM_003831:exon5:c.543+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon5:c.543+2T>G;ENST00000581585:exon5:c.495+2T>G;ENST00000577501:exon5:c.543+2T>G)	.	.	0.999988247793601	0.932
18	21044595	A	C	18	23464631	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999808391188897	0.882
18	21044595	A	G	18	23464631	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0468165213171521	0.264
18	21044595	A	T	18	23464631	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999843221363136	0.896
18	21044596	A	C	18	23464632	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998395880869461	0.92
18	21044596	A	G	18	23464632	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999428512862848	0.958
18	21044596	A	T	18	23464632	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998683178081807	0.912
18	21044597	G	A	18	23464633	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999890969096078	0.89
18	21044597	G	C	18	23464633	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999729185964967	0.932
18	21044597	G	T	18	23464633	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999939261921153	0.86
18	21044598	T	A	18	23464634	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.99799027187455	0.86
18	21044598	T	C	18	23464634	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.970953054338014	0.882
18	21044598	T	G	18	23464634	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.991202214414965	0.888
18	21044599	T	A	18	23464635	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.37215699254467E-5	0.002
18	21044599	T	C	18	23464635	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.6412967361558E-4	0.01
18	21044599	T	G	18	23464635	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.6412967361558E-4	0.012
18	21044600	A	C	18	23464636	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.65573291024173E-4	0.006
18	21044600	A	G	18	23464636	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.7181290240829E-4	0.01
18	21044600	A	T	18	23464636	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.81628903229233E-4	0.038
18	21046085	T	A	18	23466121	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.87707419151092	0.54
18	21046085	T	C	18	23466121	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.111649802248408	0.244
18	21046085	T	G	18	23466121	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.681903613205659	0.452
18	21046086	C	A	18	23466122	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0237858354504945	0.22
18	21046086	C	G	18	23466122	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00403630014686298	0.1
18	21046086	C	T	18	23466122	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.86813551372564E-4	0.094
18	21046087	C	A	18	23466123	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00120806277821836	0.08
18	21046087	C	G	18	23466123	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.4654773029416E-4	0.044
18	21046087	C	T	18	23466123	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.96355783293315E-5	0.006
18	21046088	T	A	18	23466124	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00162218798836709	0.178
18	21046088	T	C	18	23466124	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.47336716714347E-5	0.01
18	21046088	T	G	18	23466124	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.38654214752084E-4	0.064
18	21046089	T	A	18	23466125	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00481036437201426	0.07
18	21046089	T	C	18	23466125	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0021184618544339	0.026
18	21046089	T	G	18	23466125	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00162648436901693	0.068
18	21046090	T	A	18	23466126	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00154106515421251	0.056
18	21046090	T	C	18	23466126	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.13354086009287E-5	0.018
18	21046090	T	G	18	23466126	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00148340344325466	0.046
18	21046091	T	A	18	23466127	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999934181259979	0.946
18	21046091	T	C	18	23466127	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00491844153830999	0.162
18	21046091	T	G	18	23466127	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.400387412748012	0.374
18	21046092	G	A	18	23466128	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.944228460105341	0.694
18	21046092	G	C	18	23466128	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.45295547362632E-4	0.002
18	21046092	G	T	18	23466128	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.50376212916014E-4	0.004
18	21046093	G	A	18	23466129	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.47541040544158E-4	0.004
18	21046093	G	C	18	23466129	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.08530132000321E-4	0.0
18	21046093	G	T	18	23466129	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.58745888377089E-4	0.008
18	21046094	C	A	18	23466130	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.928000451600725	0.62
18	21046094	C	G	18	23466130	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999940220149748	0.962
18	21046094	C	T	18	23466130	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0103621200953492	0.26
18	21046095	A	C	18	23466131	y	y	splicing	RIOK3(NM_003831:exon6:c.544-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.544-2A>C;ENST00000581585:exon6:c.496-2A>C;ENST00000577501:exon6:c.544-2A>C)	.	.	0.999992446697775	0.93
18	21046095	A	G	18	23466131	y	y	splicing	RIOK3(NM_003831:exon6:c.544-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.544-2A>G;ENST00000581585:exon6:c.496-2A>G;ENST00000577501:exon6:c.544-2A>G)	.	.	0.999992446697775	0.93
18	21046095	A	T	18	23466131	y	y	splicing	RIOK3(NM_003831:exon6:c.544-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.544-2A>T;ENST00000581585:exon6:c.496-2A>T;ENST00000577501:exon6:c.544-2A>T)	.	.	0.999992446697775	0.932
18	21046096	G	A	18	23466132	y	y	splicing	RIOK3(NM_003831:exon6:c.544-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.544-1G>A;ENST00000581585:exon6:c.496-1G>A;ENST00000577501:exon6:c.544-1G>A)	.	.	0.999990361384395	0.926
18	21046096	G	C	18	23466132	y	y	splicing	RIOK3(NM_003831:exon6:c.544-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.544-1G>C;ENST00000581585:exon6:c.496-1G>C;ENST00000577501:exon6:c.544-1G>C)	.	.	0.999990361384395	0.926
18	21046096	G	T	18	23466132	y	y	splicing	RIOK3(NM_003831:exon6:c.544-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.544-1G>T;ENST00000581585:exon6:c.496-1G>T;ENST00000577501:exon6:c.544-1G>T)	.	.	0.999990361384395	0.926
18	21046097	T	A	18	23466133	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.T544A:p.F182I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.T544A:p.F182I;ENSG00000101782:ENST00000339486:exon6:c.T544A:p.F182I;ENSG00000101782:ENST00000581585:exon6:c.T496A:p.F166I;	0.743278314224767	0.726
18	21046097	T	C	18	23466133	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.T544C:p.F182L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.T544C:p.F182L;ENSG00000101782:ENST00000339486:exon6:c.T544C:p.F182L;ENSG00000101782:ENST00000581585:exon6:c.T496C:p.F166L;	0.799347777313361	0.482
18	21046097	T	G	18	23466133	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.T544G:p.F182V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.T544G:p.F182V;ENSG00000101782:ENST00000339486:exon6:c.T544G:p.F182V;ENSG00000101782:ENST00000581585:exon6:c.T496G:p.F166V;	0.783107677812041	0.642
18	21046098	T	A	18	23466134	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.T545A:p.F182Y;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.T545A:p.F182Y;ENSG00000101782:ENST00000339486:exon6:c.T545A:p.F182Y;ENSG00000101782:ENST00000581585:exon6:c.T497A:p.F166Y;	0.378409315777436	0.536
18	21046098	T	C	18	23466134	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.T545C:p.F182S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.T545C:p.F182S;ENSG00000101782:ENST00000339486:exon6:c.T545C:p.F182S;ENSG00000101782:ENST00000581585:exon6:c.T497C:p.F166S;	0.277938584969499	0.492
18	21046098	T	G	18	23466134	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.T545G:p.F182C;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.T545G:p.F182C;ENSG00000101782:ENST00000339486:exon6:c.T545G:p.F182C;ENSG00000101782:ENST00000581585:exon6:c.T497G:p.F166C;	0.286237224591885	0.492
18	21046238	G	A	18	23466274	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.G685A:p.A229T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.G685A:p.A229T;ENSG00000101782:ENST00000339486:exon6:c.G685A:p.A229T;ENSG00000101782:ENST00000581585:exon6:c.G637A:p.A213T;	0.00251569157023534	0.048
18	21046238	G	C	18	23466274	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.G685C:p.A229P;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.G685C:p.A229P;ENSG00000101782:ENST00000339486:exon6:c.G685C:p.A229P;ENSG00000101782:ENST00000581585:exon6:c.G637C:p.A213P;	0.00225036788011454	0.046
18	21046238	G	T	18	23466274	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.G685T:p.A229S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.G685T:p.A229S;ENSG00000101782:ENST00000339486:exon6:c.G685T:p.A229S;ENSG00000101782:ENST00000581585:exon6:c.G637T:p.A213S;	0.0986840212830493	0.232
18	21046239	C	A	18	23466275	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.C686A:p.A229E;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.C686A:p.A229E;ENSG00000101782:ENST00000339486:exon6:c.C686A:p.A229E;ENSG00000101782:ENST00000581585:exon6:c.C638A:p.A213E;	0.017404238780968	0.188
18	21046239	C	G	18	23466275	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.C686G:p.A229G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.C686G:p.A229G;ENSG00000101782:ENST00000339486:exon6:c.C686G:p.A229G;ENSG00000101782:ENST00000581585:exon6:c.C638G:p.A213G;	0.112623900405639	0.236
18	21046239	C	T	18	23466275	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon6:c.C686T:p.A229V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.C686T:p.A229V;ENSG00000101782:ENST00000339486:exon6:c.C686T:p.A229V;ENSG00000101782:ENST00000581585:exon6:c.C638T:p.A213V;	0.953019983233316	0.586
18	21046240	A	C	18	23466276	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon6:c.A687C:p.A229A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.A687C:p.A229A;ENSG00000101782:ENST00000339486:exon6:c.A687C:p.A229A;ENSG00000101782:ENST00000581585:exon6:c.A639C:p.A213A;	5.22550015628517E-5	0.056
18	21046240	A	G	18	23466276	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon6:c.A687G:p.A229A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.A687G:p.A229A;ENSG00000101782:ENST00000339486:exon6:c.A687G:p.A229A;ENSG00000101782:ENST00000581585:exon6:c.A639G:p.A213A;	3.78939081316651E-4	0.112
18	21046240	A	T	18	23466276	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon6:c.A687T:p.A229A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon6:c.A687T:p.A229A;ENSG00000101782:ENST00000339486:exon6:c.A687T:p.A229A;ENSG00000101782:ENST00000581585:exon6:c.A639T:p.A213A;	2.13559976722943E-4	0.072
18	21046241	G	A	18	23466277	y	y	splicing	RIOK3(NM_003831:exon6:c.687+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.687+1G>A;ENST00000581585:exon6:c.639+1G>A;ENST00000577501:exon6:c.687+1G>A;ENST00000584130:exon1:c.142+1G>A)	.	.	0.999984619642664	0.928
18	21046241	G	C	18	23466277	y	y	splicing	RIOK3(NM_003831:exon6:c.687+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.687+1G>C;ENST00000581585:exon6:c.639+1G>C;ENST00000577501:exon6:c.687+1G>C;ENST00000584130:exon1:c.142+1G>C)	.	.	0.99996031118762	0.926
18	21046241	G	T	18	23466277	y	y	splicing	RIOK3(NM_003831:exon6:c.687+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.687+1G>T;ENST00000581585:exon6:c.639+1G>T;ENST00000577501:exon6:c.687+1G>T;ENST00000584130:exon1:c.142+1G>T)	.	.	0.99996031118762	0.928
18	21046242	T	A	18	23466278	y	y	splicing	RIOK3(NM_003831:exon6:c.687+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.687+2T>A;ENST00000581585:exon6:c.639+2T>A;ENST00000577501:exon6:c.687+2T>A;ENST00000584130:exon1:c.142+2T>A)	.	.	0.999957317860884	0.936
18	21046242	T	C	18	23466278	y	y	splicing	RIOK3(NM_003831:exon6:c.687+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.687+2T>C;ENST00000581585:exon6:c.639+2T>C;ENST00000577501:exon6:c.687+2T>C;ENST00000584130:exon1:c.142+2T>C)	.	.	0.999761470643852	0.924
18	21046242	T	G	18	23466278	y	y	splicing	RIOK3(NM_003831:exon6:c.687+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon6:c.687+2T>G;ENST00000581585:exon6:c.639+2T>G;ENST00000577501:exon6:c.687+2T>G;ENST00000584130:exon1:c.142+2T>G)	.	.	0.999957317860884	0.95
18	21046243	A	C	18	23466279	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.99958408189555	0.914
18	21046243	A	G	18	23466279	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.970937765313139	0.546
18	21046243	A	T	18	23466279	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999752042392854	0.94
18	21046244	A	C	18	23466280	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.995751682005033	0.828
18	21046244	A	G	18	23466280	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999547199210148	0.862
18	21046244	A	T	18	23466280	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997364844253116	0.836
18	21046245	G	A	18	23466281	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999977887259397	0.998
18	21046245	G	C	18	23466281	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999978215991538	0.986
18	21046245	G	T	18	23466281	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999977887259397	0.99
18	21046246	G	A	18	23466282	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.55432373954523E-5	0.0
18	21046246	G	C	18	23466282	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.93661285345033E-5	0.032
18	21046246	G	T	18	23466282	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.00684534904205E-5	0.016
18	21046247	A	C	18	23466283	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.74975509379902E-5	0.002
18	21046247	A	G	18	23466283	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.19952046913322E-5	0.002
18	21046247	A	T	18	23466283	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.72985521232131E-4	0.022
18	21046248	T	A	18	23466284	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.85891681059665E-4	0.026
18	21046248	T	C	18	23466284	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.91566304004173E-4	0.0
18	21046248	T	G	18	23466284	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.19071557866425E-4	0.0
18	21047351	T	A	18	23467387	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.67318685654469	0.556
18	21047351	T	C	18	23467387	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.255828342652061	0.458
18	21047351	T	G	18	23467387	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.686614387173615	0.556
18	21047352	A	C	18	23467388	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.43475495194538E-4	0.232
18	21047352	A	G	18	23467388	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.5882921564989E-4	0.158
18	21047352	A	T	18	23467388	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.33074208462496E-4	0.238
18	21047353	T	A	18	23467389	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.926779178334934	0.578
18	21047353	T	C	18	23467389	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.342446099363306	0.512
18	21047353	T	G	18	23467389	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999973932629445	0.956
18	21047354	C	A	18	23467390	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0477385921210665	0.294
18	21047354	C	G	18	23467390	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0431590739318278	0.288
18	21047354	C	T	18	23467390	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.145539838881267	0.532
18	21047355	T	A	18	23467391	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.110121012242841	0.316
18	21047355	T	C	18	23467391	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0177678179093531	0.134
18	21047355	T	G	18	23467391	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0635023315157936	0.278
18	21047356	C	A	18	23467392	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00259453631979859	0.08
18	21047356	C	G	18	23467392	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00370956476616388	0.082
18	21047356	C	T	18	23467392	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.84795621131705E-5	0.008
18	21047357	T	A	18	23467393	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.365636263384429	0.326
18	21047357	T	C	18	23467393	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00227054843889038	0.036
18	21047357	T	G	18	23467393	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.304183498474979	0.278
18	21047358	T	A	18	23467394	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999706822666368	0.964
18	21047358	T	C	18	23467394	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.69031265005849E-4	0.022
18	21047358	T	G	18	23467394	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0149930112186898	0.248
18	21047359	G	A	18	23467395	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.02026555552483E-4	0.032
18	21047359	G	C	18	23467395	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.67353840995728E-4	0.0
18	21047359	G	T	18	23467395	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.07086366217892E-4	0.0
18	21047360	C	A	18	23467396	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.978652191559598	0.724
18	21047360	C	G	18	23467396	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.99992659665275	0.952
18	21047360	C	T	18	23467396	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00428820133091729	0.098
18	21047361	A	C	18	23467397	y	y	splicing	RIOK3(NM_003831:exon7:c.688-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.688-2A>C;ENST00000581585:exon7:c.640-2A>C;ENST00000577501:exon7:c.688-2A>C;ENST00000584130:exon2:c.143-2A>C)	.	.	0.999988247793601	0.928
18	21047361	A	G	18	23467397	y	y	splicing	RIOK3(NM_003831:exon7:c.688-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.688-2A>G;ENST00000581585:exon7:c.640-2A>G;ENST00000577501:exon7:c.688-2A>G;ENST00000584130:exon2:c.143-2A>G)	.	.	0.999988247793601	0.928
18	21047361	A	T	18	23467397	y	y	splicing	RIOK3(NM_003831:exon7:c.688-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.688-2A>T;ENST00000581585:exon7:c.640-2A>T;ENST00000577501:exon7:c.688-2A>T;ENST00000584130:exon2:c.143-2A>T)	.	.	0.999988247793601	0.928
18	21047362	G	A	18	23467398	y	y	splicing	RIOK3(NM_003831:exon7:c.688-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.688-1G>A;ENST00000581585:exon7:c.640-1G>A;ENST00000577501:exon7:c.688-1G>A;ENST00000584130:exon2:c.143-1G>A)	.	.	0.999985532734767	0.936
18	21047362	G	C	18	23467398	y	y	splicing	RIOK3(NM_003831:exon7:c.688-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.688-1G>C;ENST00000581585:exon7:c.640-1G>C;ENST00000577501:exon7:c.688-1G>C;ENST00000584130:exon2:c.143-1G>C)	.	.	0.999985532734767	0.936
18	21047362	G	T	18	23467398	y	y	splicing	RIOK3(NM_003831:exon7:c.688-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.688-1G>T;ENST00000581585:exon7:c.640-1G>T;ENST00000577501:exon7:c.688-1G>T;ENST00000584130:exon2:c.143-1G>T)	.	.	0.999985532734767	0.936
18	21047363	G	A	18	23467399	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.G688A:p.E230K;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.G688A:p.E230K;ENSG00000101782:ENST00000339486:exon7:c.G688A:p.E230K;ENSG00000101782:ENST00000581585:exon7:c.G640A:p.E214K;	0.998931717173313	0.872
18	21047363	G	C	18	23467399	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.G688C:p.E230Q;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.G688C:p.E230Q;ENSG00000101782:ENST00000339486:exon7:c.G688C:p.E230Q;ENSG00000101782:ENST00000581585:exon7:c.G640C:p.E214Q;	0.999509480460445	0.986
18	21047363	G	T	18	23467399	y	y	exonic	RIOK3	stopgain SNV	RIOK3:NM_003831:exon7:c.G688T:p.E230X;	exonic	ENSG00000101782	stopgain SNV	ENSG00000101782:ENST00000577501:exon7:c.G688T:p.E230X;ENSG00000101782:ENST00000339486:exon7:c.G688T:p.E230X;ENSG00000101782:ENST00000581585:exon7:c.G640T:p.E214X;	0.999589638414276	0.996
18	21047364	A	C	18	23467400	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.A689C:p.E230A;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.A689C:p.E230A;ENSG00000101782:ENST00000339486:exon7:c.A689C:p.E230A;ENSG00000101782:ENST00000581585:exon7:c.A641C:p.E214A;	0.541473744170113	0.662
18	21047364	A	G	18	23467400	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.A689G:p.E230G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.A689G:p.E230G;ENSG00000101782:ENST00000339486:exon7:c.A689G:p.E230G;ENSG00000101782:ENST00000581585:exon7:c.A641G:p.E214G;	0.64228602855336	0.628
18	21047364	A	T	18	23467400	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.A689T:p.E230V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.A689T:p.E230V;ENSG00000101782:ENST00000339486:exon7:c.A689T:p.E230V;ENSG00000101782:ENST00000581585:exon7:c.A641T:p.E214V;	0.316687350123909	0.682
18	21047488	G	A	18	23467524	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon7:c.G813A:p.G271G;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.G813A:p.G271G;ENSG00000101782:ENST00000339486:exon7:c.G813A:p.G271G;ENSG00000101782:ENST00000581585:exon7:c.G765A:p.G255G;	1.50443921887766E-4	0.0
18	21047488	G	C	18	23467524	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon7:c.G813C:p.G271G;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.G813C:p.G271G;ENSG00000101782:ENST00000339486:exon7:c.G813C:p.G271G;ENSG00000101782:ENST00000581585:exon7:c.G765C:p.G255G;	1.07072002697292E-4	0.0
18	21047488	G	T	18	23467524	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon7:c.G813T:p.G271G;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.G813T:p.G271G;ENSG00000101782:ENST00000339486:exon7:c.G813T:p.G271G;ENSG00000101782:ENST00000581585:exon7:c.G765T:p.G255G;	0.00874280301198182	0.172
18	21047489	A	C	18	23467525	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.A814C:p.S272R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.A814C:p.S272R;ENSG00000101782:ENST00000339486:exon7:c.A814C:p.S272R;ENSG00000101782:ENST00000581585:exon7:c.A766C:p.S256R;	0.998717162840523	0.954
18	21047489	A	G	18	23467525	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.A814G:p.S272G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.A814G:p.S272G;ENSG00000101782:ENST00000339486:exon7:c.A814G:p.S272G;ENSG00000101782:ENST00000581585:exon7:c.A766G:p.S256G;	0.999317237378863	0.992
18	21047489	A	T	18	23467525	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.A814T:p.S272C;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.A814T:p.S272C;ENSG00000101782:ENST00000339486:exon7:c.A814T:p.S272C;ENSG00000101782:ENST00000581585:exon7:c.A766T:p.S256C;	0.999302880091106	0.998
18	21047490	G	A	18	23467526	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.G815A:p.S272N;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.G815A:p.S272N;ENSG00000101782:ENST00000339486:exon7:c.G815A:p.S272N;ENSG00000101782:ENST00000581585:exon7:c.G767A:p.S256N;	0.99976045422686	0.996
18	21047490	G	C	18	23467526	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.G815C:p.S272T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.G815C:p.S272T;ENSG00000101782:ENST00000339486:exon7:c.G815C:p.S272T;ENSG00000101782:ENST00000581585:exon7:c.G767C:p.S256T;	0.999991419975143	1.0
18	21047490	G	T	18	23467526	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon7:c.G815T:p.S272I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon7:c.G815T:p.S272I;ENSG00000101782:ENST00000339486:exon7:c.G815T:p.S272I;ENSG00000101782:ENST00000581585:exon7:c.G767T:p.S256I;	0.999921030467413	0.992
18	21047491	G	A	18	23467527	y	y	splicing	RIOK3(NM_003831:exon7:c.815+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.815+1G>A;ENST00000581585:exon7:c.767+1G>A;ENST00000577501:exon7:c.815+1G>A;ENST00000584130:exon2:c.270+1G>A)	.	.	0.999985532734767	0.936
18	21047491	G	C	18	23467527	y	y	splicing	RIOK3(NM_003831:exon7:c.815+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.815+1G>C;ENST00000581585:exon7:c.767+1G>C;ENST00000577501:exon7:c.815+1G>C;ENST00000584130:exon2:c.270+1G>C)	.	.	0.999985532734767	0.936
18	21047491	G	T	18	23467527	y	y	splicing	RIOK3(NM_003831:exon7:c.815+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.815+1G>T;ENST00000581585:exon7:c.767+1G>T;ENST00000577501:exon7:c.815+1G>T;ENST00000584130:exon2:c.270+1G>T)	.	.	0.999985532734767	0.936
18	21047492	T	A	18	23467528	y	y	splicing	RIOK3(NM_003831:exon7:c.815+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.815+2T>A;ENST00000581585:exon7:c.767+2T>A;ENST00000577501:exon7:c.815+2T>A;ENST00000584130:exon2:c.270+2T>A)	.	.	0.999988247793601	0.928
18	21047492	T	C	18	23467528	y	y	splicing	RIOK3(NM_003831:exon7:c.815+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.815+2T>C;ENST00000581585:exon7:c.767+2T>C;ENST00000577501:exon7:c.815+2T>C;ENST00000584130:exon2:c.270+2T>C)	.	.	0.992783534660112	0.674
18	21047492	T	G	18	23467528	y	y	splicing	RIOK3(NM_003831:exon7:c.815+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon7:c.815+2T>G;ENST00000581585:exon7:c.767+2T>G;ENST00000577501:exon7:c.815+2T>G;ENST00000584130:exon2:c.270+2T>G)	.	.	0.999988247793601	0.928
18	21047493	A	C	18	23467529	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999941336468487	0.936
18	21047493	A	G	18	23467529	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.995311380727412	0.844
18	21047493	A	T	18	23467529	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999768590486141	0.952
18	21047494	A	C	18	23467530	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997346550392033	0.83
18	21047494	A	G	18	23467530	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.994735208642048	0.886
18	21047494	A	T	18	23467530	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997088881426112	0.86
18	21047495	A	C	18	23467531	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.29149151167035E-4	0.056
18	21047495	A	G	18	23467531	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.24088468528347E-4	0.034
18	21047495	A	T	18	23467531	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.50745332689475E-5	0.032
18	21047496	T	A	18	23467532	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0360859919719612	0.306
18	21047496	T	C	18	23467532	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0368715750337111	0.376
18	21047496	T	G	18	23467532	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0611550915539687	0.276
18	21047497	G	A	18	23467533	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.38709629588192E-4	0.036
18	21047497	G	C	18	23467533	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.38709629588192E-4	0.016
18	21047497	G	T	18	23467533	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00130420880067862	0.034
18	21047498	A	C	18	23467534	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00545417267849097	0.036
18	21047498	A	G	18	23467534	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00458820237136741	0.02
18	21047498	A	T	18	23467534	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00868831376424339	0.022
18	21053381	T	A	18	23473417	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.365758681981599	0.38
18	21053381	T	C	18	23473417	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.94124782447154E-4	0.046
18	21053381	T	G	18	23473417	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0556382483086851	0.31
18	21053382	C	A	18	23473418	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00164121225628504	0.048
18	21053382	C	G	18	23473418	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.21293041209565E-4	0.094
18	21053382	C	T	18	23473418	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.85860996676574E-5	0.0
18	21053383	T	A	18	23473419	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00772099203449907	0.18
18	21053383	T	C	18	23473419	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.51866539611194E-4	0.022
18	21053383	T	G	18	23473419	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00280822679304507	0.216
18	21053384	T	A	18	23473420	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0221631632636709	0.286
18	21053384	T	C	18	23473420	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.9462391519627E-4	0.018
18	21053384	T	G	18	23473420	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0355452928722218	0.244
18	21053385	C	A	18	23473421	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00152560935902136	0.094
18	21053385	C	G	18	23473421	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00164717713859681	0.098
18	21053385	C	T	18	23473421	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.98510259370474E-5	0.0
18	21053386	C	A	18	23473422	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.7198281785492E-4	0.01
18	21053386	C	G	18	23473422	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.67953182974985E-4	0.018
18	21053386	C	T	18	23473422	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.02615828381532E-5	0.008
18	21053387	A	C	18	23473423	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.26087410155076E-5	0.002
18	21053387	A	G	18	23473423	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.92594528515314E-5	0.0
18	21053387	A	T	18	23473423	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.16756479989518E-5	0.002
18	21053388	C	A	18	23473424	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.11462867260073E-4	0.084
18	21053388	C	G	18	23473424	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999970209253047	0.982
18	21053388	C	T	18	23473424	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.21397644063752E-4	0.002
18	21053389	T	A	18	23473425	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.99236119274978E-5	0.002
18	21053389	T	C	18	23473425	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.73205312888874E-5	0.002
18	21053389	T	G	18	23473425	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.23931595602826E-5	0.0
18	21053390	T	A	18	23473426	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.923929770693056	0.566
18	21053390	T	C	18	23473426	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.90787096289866E-4	0.018
18	21053390	T	G	18	23473426	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999506908045919	0.826
18	21053391	A	C	18	23473427	y	y	splicing	RIOK3(NM_003831:exon8:c.816-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.816-2A>C;ENST00000581585:exon8:c.768-2A>C;ENST00000577501:exon8:c.816-2A>C;ENST00000584130:exon3:c.271-2A>C)	.	.	0.999986903042585	0.926
18	21053391	A	G	18	23473427	y	y	splicing	RIOK3(NM_003831:exon8:c.816-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.816-2A>G;ENST00000581585:exon8:c.768-2A>G;ENST00000577501:exon8:c.816-2A>G;ENST00000584130:exon3:c.271-2A>G)	.	.	0.999986903042585	0.926
18	21053391	A	T	18	23473427	y	y	splicing	RIOK3(NM_003831:exon8:c.816-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.816-2A>T;ENST00000581585:exon8:c.768-2A>T;ENST00000577501:exon8:c.816-2A>T;ENST00000584130:exon3:c.271-2A>T)	.	.	0.999986903042585	0.924
18	21053392	G	A	18	23473428	y	y	splicing	RIOK3(NM_003831:exon8:c.816-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.816-1G>A;ENST00000581585:exon8:c.768-1G>A;ENST00000577501:exon8:c.816-1G>A;ENST00000584130:exon3:c.271-1G>A)	.	.	0.999986675681007	0.922
18	21053392	G	C	18	23473428	y	y	splicing	RIOK3(NM_003831:exon8:c.816-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.816-1G>C;ENST00000581585:exon8:c.768-1G>C;ENST00000577501:exon8:c.816-1G>C;ENST00000584130:exon3:c.271-1G>C)	.	.	0.999986675681007	0.934
18	21053392	G	T	18	23473428	y	y	splicing	RIOK3(NM_003831:exon8:c.816-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.816-1G>T;ENST00000581585:exon8:c.768-1G>T;ENST00000577501:exon8:c.816-1G>T;ENST00000584130:exon3:c.271-1G>T)	.	.	0.999986675681007	0.934
18	21053393	C	A	18	23473429	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.C816A:p.S272R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.C816A:p.S272R;ENSG00000101782:ENST00000339486:exon8:c.C816A:p.S272R;ENSG00000101782:ENST00000581585:exon8:c.C768A:p.S256R;	8.86155185333266E-4	0.03
18	21053393	C	G	18	23473429	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.C816G:p.S272R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.C816G:p.S272R;ENSG00000101782:ENST00000339486:exon8:c.C816G:p.S272R;ENSG00000101782:ENST00000581585:exon8:c.C768G:p.S256R;	0.0017954971382845	0.052
18	21053393	C	T	18	23473429	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon8:c.C816T:p.S272S;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.C816T:p.S272S;ENSG00000101782:ENST00000339486:exon8:c.C816T:p.S272S;ENSG00000101782:ENST00000581585:exon8:c.C768T:p.S256S;	0.0373949420186972	0.276
18	21053394	A	C	18	23473430	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.A817C:p.M273L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.A817C:p.M273L;ENSG00000101782:ENST00000339486:exon8:c.A817C:p.M273L;ENSG00000101782:ENST00000581585:exon8:c.A769C:p.M257L;	0.00458693438754741	0.028
18	21053394	A	G	18	23473430	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.A817G:p.M273V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.A817G:p.M273V;ENSG00000101782:ENST00000339486:exon8:c.A817G:p.M273V;ENSG00000101782:ENST00000581585:exon8:c.A769G:p.M257V;	6.23944506441067E-4	0.006
18	21053394	A	T	18	23473430	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.A817T:p.M273L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.A817T:p.M273L;ENSG00000101782:ENST00000339486:exon8:c.A817T:p.M273L;ENSG00000101782:ENST00000581585:exon8:c.A769T:p.M257L;	0.00145468525522619	0.012
18	21053588	A	C	18	23473624	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon8:c.A1011C:p.A337A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.A1011C:p.A337A;ENSG00000101782:ENST00000339486:exon8:c.A1011C:p.A337A;ENSG00000101782:ENST00000581585:exon8:c.A963C:p.A321A;	6.23565715447254E-5	0.0
18	21053588	A	G	18	23473624	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon8:c.A1011G:p.A337A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.A1011G:p.A337A;ENSG00000101782:ENST00000339486:exon8:c.A1011G:p.A337A;ENSG00000101782:ENST00000581585:exon8:c.A963G:p.A321A;	4.3740960140463E-4	0.014
18	21053588	A	T	18	23473624	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon8:c.A1011T:p.A337A;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.A1011T:p.A337A;ENSG00000101782:ENST00000339486:exon8:c.A1011T:p.A337A;ENSG00000101782:ENST00000581585:exon8:c.A963T:p.A321A;	0.0830778346234112	0.382
18	21053589	A	C	18	23473625	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon8:c.A1012C:p.R338R;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.A1012C:p.R338R;ENSG00000101782:ENST00000339486:exon8:c.A1012C:p.R338R;ENSG00000101782:ENST00000581585:exon8:c.A964C:p.R322R;	0.99645252676604	0.906
18	21053589	A	G	18	23473625	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.A1012G:p.R338G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.A1012G:p.R338G;ENSG00000101782:ENST00000339486:exon8:c.A1012G:p.R338G;ENSG00000101782:ENST00000581585:exon8:c.A964G:p.R322G;	0.999398017754634	0.994
18	21053589	A	T	18	23473625	y	y	exonic	RIOK3	stopgain SNV	RIOK3:NM_003831:exon8:c.A1012T:p.R338X;	exonic	ENSG00000101782	stopgain SNV	ENSG00000101782:ENST00000577501:exon8:c.A1012T:p.R338X;ENSG00000101782:ENST00000339486:exon8:c.A1012T:p.R338X;ENSG00000101782:ENST00000581585:exon8:c.A964T:p.R322X;	0.999923437161908	0.978
18	21053590	G	A	18	23473626	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.G1013A:p.R338K;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.G1013A:p.R338K;ENSG00000101782:ENST00000339486:exon8:c.G1013A:p.R338K;ENSG00000101782:ENST00000581585:exon8:c.G965A:p.R322K;	0.999991797278161	1.0
18	21053590	G	C	18	23473626	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.G1013C:p.R338T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.G1013C:p.R338T;ENSG00000101782:ENST00000339486:exon8:c.G1013C:p.R338T;ENSG00000101782:ENST00000581585:exon8:c.G965C:p.R322T;	0.999992097819931	0.998
18	21053590	G	T	18	23473626	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon8:c.G1013T:p.R338I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon8:c.G1013T:p.R338I;ENSG00000101782:ENST00000339486:exon8:c.G1013T:p.R338I;ENSG00000101782:ENST00000581585:exon8:c.G965T:p.R322I;	0.999967621309011	0.992
18	21053591	G	A	18	23473627	y	y	splicing	RIOK3(NM_003831:exon8:c.1013+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.1013+1G>A;ENST00000581585:exon8:c.965+1G>A;ENST00000577501:exon8:c.1013+1G>A)	.	.	0.999986675681007	0.936
18	21053591	G	C	18	23473627	y	y	splicing	RIOK3(NM_003831:exon8:c.1013+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.1013+1G>C;ENST00000581585:exon8:c.965+1G>C;ENST00000577501:exon8:c.1013+1G>C)	.	.	0.999986675681007	0.936
18	21053591	G	T	18	23473627	y	y	splicing	RIOK3(NM_003831:exon8:c.1013+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.1013+1G>T;ENST00000581585:exon8:c.965+1G>T;ENST00000577501:exon8:c.1013+1G>T)	.	.	0.999986675681007	0.936
18	21053592	T	A	18	23473628	y	y	splicing	RIOK3(NM_003831:exon8:c.1013+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.1013+2T>A;ENST00000581585:exon8:c.965+2T>A;ENST00000577501:exon8:c.1013+2T>A)	.	.	0.999990155693597	0.928
18	21053592	T	C	18	23473628	y	y	splicing	RIOK3(NM_003831:exon8:c.1013+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.1013+2T>C;ENST00000581585:exon8:c.965+2T>C;ENST00000577501:exon8:c.1013+2T>C)	.	.	0.991154604827462	0.612
18	21053592	T	G	18	23473628	y	y	splicing	RIOK3(NM_003831:exon8:c.1013+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon8:c.1013+2T>G;ENST00000581585:exon8:c.965+2T>G;ENST00000577501:exon8:c.1013+2T>G)	.	.	0.999990155693597	0.928
18	21053593	A	C	18	23473629	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999933956144807	0.93
18	21053593	A	G	18	23473629	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998196702470843	0.8
18	21053593	A	T	18	23473629	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.99986281283021	0.914
18	21053594	A	C	18	23473630	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.695770023463985	0.474
18	21053594	A	G	18	23473630	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.833582308162222	0.682
18	21053594	A	T	18	23473630	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.312731161683376	0.394
18	21053595	A	C	18	23473631	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00221484535459112	0.1
18	21053595	A	G	18	23473631	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.87598386272351E-4	0.046
18	21053595	A	T	18	23473631	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00288995632004472	0.076
18	21053596	G	A	18	23473632	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.85835831189809E-4	0.006
18	21053596	G	C	18	23473632	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.49571991687776E-4	0.022
18	21053596	G	T	18	23473632	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.21345394552389E-4	0.0
18	21053597	A	C	18	23473633	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.28951653551821E-5	0.0
18	21053597	A	G	18	23473633	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.34878309423275E-5	0.0
18	21053597	A	T	18	23473633	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.92450936672889E-4	0.0
18	21053598	A	C	18	23473634	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.64833034090122E-5	0.0
18	21053598	A	G	18	23473634	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.30967186743841E-5	0.0
18	21053598	A	T	18	23473634	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.30967186743841E-5	0.0
18	21054900	C	A	18	23474936	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.184630994609056	0.196
18	21054900	C	G	18	23474936	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0760560550645325	0.16
18	21054900	C	T	18	23474936	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00236953067353628	0.044
18	21054901	T	A	18	23474937	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999266329234661	0.958
18	21054901	T	C	18	23474937	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.992335994975127	0.646
18	21054901	T	G	18	23474937	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998461739394656	0.914
18	21054902	T	A	18	23474938	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999788875202283	0.93
18	21054902	T	C	18	23474938	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.835701832919482	0.452
18	21054902	T	G	18	23474938	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999612304226368	0.924
18	21054903	T	A	18	23474939	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999667385409028	0.838
18	21054903	T	C	18	23474939	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.761455334435025	0.442
18	21054903	T	G	18	23474939	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999865213102876	0.924
18	21054904	A	C	18	23474940	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.97055698740532E-4	0.054
18	21054904	A	G	18	23474940	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00102257177181534	0.056
18	21054904	A	T	18	23474940	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.61517714356175E-5	0.0
18	21054905	T	A	18	23474941	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999952650825543	0.978
18	21054905	T	C	18	23474941	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.41959787356624E-4	0.03
18	21054905	T	G	18	23474941	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999952650825543	0.966
18	21054906	G	A	18	23474942	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.2817293364625E-5	0.0
18	21054906	G	C	18	23474942	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.07136148482047E-4	0.04
18	21054906	G	T	18	23474942	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.31818855693946E-5	0.03
18	21054907	T	A	18	23474943	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.891943915357348	0.536
18	21054907	T	C	18	23474943	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0200241290690613	0.252
18	21054907	T	G	18	23474943	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.758145977527125	0.486
18	21054908	A	C	18	23474944	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.69548977675967E-5	0.008
18	21054908	A	G	18	23474944	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.16198028460782E-4	0.044
18	21054908	A	T	18	23474944	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.93615839526836E-4	0.0
18	21054909	T	A	18	23474945	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.286402061901551	0.392
18	21054909	T	C	18	23474945	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.56449688122034E-5	0.046
18	21054909	T	G	18	23474945	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.995842329909244	0.67
18	21054910	A	C	18	23474946	y	y	splicing	RIOK3(NM_003831:exon9:c.1014-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1014-2A>C;ENST00000581585:exon9:c.966-2A>C;ENST00000577501:exon9:c.1014-2A>C;ENST00000584130:exon4:c.326-2A>C)	.	.	0.999988247793601	0.95
18	21054910	A	G	18	23474946	y	y	splicing	RIOK3(NM_003831:exon9:c.1014-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1014-2A>G;ENST00000581585:exon9:c.966-2A>G;ENST00000577501:exon9:c.1014-2A>G;ENST00000584130:exon4:c.326-2A>G)	.	.	0.999988247793601	0.95
18	21054910	A	T	18	23474946	y	y	splicing	RIOK3(NM_003831:exon9:c.1014-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1014-2A>T;ENST00000581585:exon9:c.966-2A>T;ENST00000577501:exon9:c.1014-2A>T;ENST00000584130:exon4:c.326-2A>T)	.	.	0.999988247793601	0.95
18	21054911	G	A	18	23474947	y	y	splicing	RIOK3(NM_003831:exon9:c.1014-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1014-1G>A;ENST00000581585:exon9:c.966-1G>A;ENST00000577501:exon9:c.1014-1G>A;ENST00000584130:exon4:c.326-1G>A)	.	.	0.999990361384395	0.948
18	21054911	G	C	18	23474947	y	y	splicing	RIOK3(NM_003831:exon9:c.1014-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1014-1G>C;ENST00000581585:exon9:c.966-1G>C;ENST00000577501:exon9:c.1014-1G>C;ENST00000584130:exon4:c.326-1G>C)	.	.	0.999990361384395	0.948
18	21054911	G	T	18	23474947	y	y	splicing	RIOK3(NM_003831:exon9:c.1014-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1014-1G>T;ENST00000581585:exon9:c.966-1G>T;ENST00000577501:exon9:c.1014-1G>T;ENST00000584130:exon4:c.326-1G>T)	.	.	0.999990361384395	0.948
18	21054912	A	C	18	23474948	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.A1014C:p.R338S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1014C:p.R338S;ENSG00000101782:ENST00000339486:exon9:c.A1014C:p.R338S;ENSG00000101782:ENST00000581585:exon9:c.A966C:p.R322S;	0.00326003086985875	0.126
18	21054912	A	G	18	23474948	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon9:c.A1014G:p.R338R;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1014G:p.R338R;ENSG00000101782:ENST00000339486:exon9:c.A1014G:p.R338R;ENSG00000101782:ENST00000581585:exon9:c.A966G:p.R322R;	1.7485469169334E-4	0.012
18	21054912	A	T	18	23474948	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.A1014T:p.R338S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1014T:p.R338S;ENSG00000101782:ENST00000339486:exon9:c.A1014T:p.R338S;ENSG00000101782:ENST00000581585:exon9:c.A966T:p.R322S;	0.00984209726917763	0.17
18	21054913	A	C	18	23474949	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.A1015C:p.M339L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1015C:p.M339L;ENSG00000101782:ENST00000339486:exon9:c.A1015C:p.M339L;ENSG00000101782:ENST00000581585:exon9:c.A967C:p.M323L;	0.351182784141019	0.396
18	21054913	A	G	18	23474949	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.A1015G:p.M339V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1015G:p.M339V;ENSG00000101782:ENST00000339486:exon9:c.A1015G:p.M339V;ENSG00000101782:ENST00000581585:exon9:c.A967G:p.M323V;	0.265063290324723	0.326
18	21054913	A	T	18	23474949	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.A1015T:p.M339L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1015T:p.M339L;ENSG00000101782:ENST00000339486:exon9:c.A1015T:p.M339L;ENSG00000101782:ENST00000581585:exon9:c.A967T:p.M323L;	0.125670474766716	0.404
18	21055069	C	A	18	23475105	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.C1171A:p.H391N;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.C1171A:p.H391N;ENSG00000101782:ENST00000339486:exon9:c.C1171A:p.H391N;ENSG00000101782:ENST00000581585:exon9:c.C1123A:p.H375N;	0.00497084249000391	0.138
18	21055069	C	G	18	23475105	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.C1171G:p.H391D;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.C1171G:p.H391D;ENSG00000101782:ENST00000339486:exon9:c.C1171G:p.H391D;ENSG00000101782:ENST00000581585:exon9:c.C1123G:p.H375D;	5.80727741026557E-4	0.068
18	21055069	C	T	18	23475105	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.C1171T:p.H391Y;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.C1171T:p.H391Y;ENSG00000101782:ENST00000339486:exon9:c.C1171T:p.H391Y;ENSG00000101782:ENST00000581585:exon9:c.C1123T:p.H375Y;	0.812452146226843	0.596
18	21055070	A	C	18	23475106	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.A1172C:p.H391P;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1172C:p.H391P;ENSG00000101782:ENST00000339486:exon9:c.A1172C:p.H391P;ENSG00000101782:ENST00000581585:exon9:c.A1124C:p.H375P;	0.52419720288452	0.68
18	21055070	A	G	18	23475106	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.A1172G:p.H391R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1172G:p.H391R;ENSG00000101782:ENST00000339486:exon9:c.A1172G:p.H391R;ENSG00000101782:ENST00000581585:exon9:c.A1124G:p.H375R;	0.161002182545058	0.484
18	21055070	A	T	18	23475106	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.A1172T:p.H391L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.A1172T:p.H391L;ENSG00000101782:ENST00000339486:exon9:c.A1172T:p.H391L;ENSG00000101782:ENST00000581585:exon9:c.A1124T:p.H375L;	0.959979142528487	0.786
18	21055071	T	A	18	23475107	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.T1173A:p.H391Q;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.T1173A:p.H391Q;ENSG00000101782:ENST00000339486:exon9:c.T1173A:p.H391Q;ENSG00000101782:ENST00000581585:exon9:c.T1125A:p.H375Q;	4.32529865264185E-5	0.022
18	21055071	T	C	18	23475107	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon9:c.T1173C:p.H391H;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.T1173C:p.H391H;ENSG00000101782:ENST00000339486:exon9:c.T1173C:p.H391H;ENSG00000101782:ENST00000581585:exon9:c.T1125C:p.H375H;	3.57488794911601E-4	0.11
18	21055071	T	G	18	23475107	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon9:c.T1173G:p.H391Q;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon9:c.T1173G:p.H391Q;ENSG00000101782:ENST00000339486:exon9:c.T1173G:p.H391Q;ENSG00000101782:ENST00000581585:exon9:c.T1125G:p.H375Q;	5.15731796072391E-5	0.014
18	21055072	G	A	18	23475108	y	y	splicing	RIOK3(NM_003831:exon9:c.1173+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1173+1G>A;ENST00000581585:exon9:c.1125+1G>A;ENST00000577501:exon9:c.1173+1G>A;ENST00000584130:exon4:c.485+1G>A)	.	.	0.999990361384395	0.938
18	21055072	G	C	18	23475108	y	y	splicing	RIOK3(NM_003831:exon9:c.1173+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1173+1G>C;ENST00000581585:exon9:c.1125+1G>C;ENST00000577501:exon9:c.1173+1G>C;ENST00000584130:exon4:c.485+1G>C)	.	.	0.999990361384395	0.938
18	21055072	G	T	18	23475108	y	y	splicing	RIOK3(NM_003831:exon9:c.1173+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1173+1G>T;ENST00000581585:exon9:c.1125+1G>T;ENST00000577501:exon9:c.1173+1G>T;ENST00000584130:exon4:c.485+1G>T)	.	.	0.999990361384395	0.938
18	21055073	T	A	18	23475109	y	y	splicing	RIOK3(NM_003831:exon9:c.1173+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1173+2T>A;ENST00000581585:exon9:c.1125+2T>A;ENST00000577501:exon9:c.1173+2T>A;ENST00000584130:exon4:c.485+2T>A)	.	.	0.999988247793601	0.93
18	21055073	T	C	18	23475109	y	y	splicing	RIOK3(NM_003831:exon9:c.1173+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1173+2T>C;ENST00000581585:exon9:c.1125+2T>C;ENST00000577501:exon9:c.1173+2T>C;ENST00000584130:exon4:c.485+2T>C)	.	.	0.995320650369382	0.724
18	21055073	T	G	18	23475109	y	y	splicing	RIOK3(NM_003831:exon9:c.1173+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon9:c.1173+2T>G;ENST00000581585:exon9:c.1125+2T>G;ENST00000577501:exon9:c.1173+2T>G;ENST00000584130:exon4:c.485+2T>G)	.	.	0.999988247793601	0.93
18	21055074	A	C	18	23475110	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999507561672983	0.892
18	21055074	A	G	18	23475110	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0222416883614752	0.202
18	21055074	A	T	18	23475110	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999860520728144	0.922
18	21055075	A	C	18	23475111	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.859025774633093	0.618
18	21055075	A	G	18	23475111	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.995304878436472	0.808
18	21055075	A	T	18	23475111	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.957086007123535	0.688
18	21055076	G	A	18	23475112	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999805465150763	0.916
18	21055076	G	C	18	23475112	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999732083665127	0.89
18	21055076	G	T	18	23475112	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999844720344722	0.908
18	21055077	T	A	18	23475113	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.86045315865324	0.698
18	21055077	T	C	18	23475113	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.909383842122674	0.656
18	21055077	T	G	18	23475113	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.593518411796315	0.538
18	21055078	T	A	18	23475114	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.60676020071976E-5	0.0
18	21055078	T	C	18	23475114	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.97622648326312E-5	0.0
18	21055078	T	G	18	23475114	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.5908222467397E-5	0.0
18	21055079	G	A	18	23475115	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.58461283867531E-5	0.0
18	21055079	G	C	18	23475115	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.80781189947467E-5	0.004
18	21055079	G	T	18	23475115	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.28583368392137E-5	0.0
18	21056958	C	A	18	23476994	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.4119679505385E-4	0.044
18	21056958	C	G	18	23476994	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.15584503510024E-4	0.038
18	21056958	C	T	18	23476994	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.91266145916482E-5	0.0
18	21056959	C	A	18	23476995	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.13029749197292E-4	0.024
18	21056959	C	G	18	23476995	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.46962865338623E-4	0.0
18	21056959	C	T	18	23476995	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.339337526469E-5	0.0
18	21056960	C	A	18	23476996	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.65338299983134E-4	0.038
18	21056960	C	G	18	23476996	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.70466362093929E-5	0.002
18	21056960	C	T	18	23476996	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.9881326329792E-5	0.0
18	21056961	T	A	18	23476997	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0055995323172796	0.144
18	21056961	T	C	18	23476997	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.72016871090707E-4	0.002
18	21056961	T	G	18	23476997	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00254329315116859	0.096
18	21056962	C	A	18	23476998	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00581828449729123	0.158
18	21056962	C	G	18	23476998	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.4708281537964E-4	0.044
18	21056962	C	T	18	23476998	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.6518120368221E-5	0.004
18	21056963	T	A	18	23476999	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.38932357852948E-4	0.124
18	21056963	T	C	18	23476999	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.29123566789064E-5	0.0
18	21056963	T	G	18	23476999	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.51441351444828E-4	0.102
18	21056964	T	A	18	23477000	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00267261529258067	0.086
18	21056964	T	C	18	23477000	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.37855934433306E-4	0.002
18	21056964	T	G	18	23477000	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.57582822742107E-4	0.078
18	21056965	C	A	18	23477001	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.43545371274941E-4	0.046
18	21056965	C	G	18	23477001	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.77517763125852E-4	0.044
18	21056965	C	T	18	23477001	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.66304901450109E-5	0.0
18	21056966	A	C	18	23477002	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.18179302248458E-5	0.002
18	21056966	A	G	18	23477002	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.26015848122409E-5	0.0
18	21056966	A	T	18	23477002	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.13788039048369E-4	0.008
18	21056967	C	A	18	23477003	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.974576423167512	0.736
18	21056967	C	G	18	23477003	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.9996475217039	0.958
18	21056967	C	T	18	23477003	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0582457009684217	0.2
18	21056968	A	C	18	23477004	y	y	splicing	RIOK3(NM_003831:exon10:c.1174-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1174-2A>C;ENST00000581585:exon10:c.1126-2A>C;ENST00000577501:exon10:c.1174-2A>C;ENST00000584130:exon5:c.486-2A>C)	.	.	0.999988247793601	0.928
18	21056968	A	G	18	23477004	y	y	splicing	RIOK3(NM_003831:exon10:c.1174-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1174-2A>G;ENST00000581585:exon10:c.1126-2A>G;ENST00000577501:exon10:c.1174-2A>G;ENST00000584130:exon5:c.486-2A>G)	.	.	0.999988247793601	0.928
18	21056968	A	T	18	23477004	y	y	splicing	RIOK3(NM_003831:exon10:c.1174-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1174-2A>T;ENST00000581585:exon10:c.1126-2A>T;ENST00000577501:exon10:c.1174-2A>T;ENST00000584130:exon5:c.486-2A>T)	.	.	0.999988247793601	0.878
18	21056969	G	A	18	23477005	y	y	splicing	RIOK3(NM_003831:exon10:c.1174-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1174-1G>A;ENST00000581585:exon10:c.1126-1G>A;ENST00000577501:exon10:c.1174-1G>A;ENST00000584130:exon5:c.486-1G>A)	.	.	0.999973000532412	0.922
18	21056969	G	C	18	23477005	y	y	splicing	RIOK3(NM_003831:exon10:c.1174-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1174-1G>C;ENST00000581585:exon10:c.1126-1G>C;ENST00000577501:exon10:c.1174-1G>C;ENST00000584130:exon5:c.486-1G>C)	.	.	0.999930329503934	0.924
18	21056969	G	T	18	23477005	y	y	splicing	RIOK3(NM_003831:exon10:c.1174-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1174-1G>T;ENST00000581585:exon10:c.1126-1G>T;ENST00000577501:exon10:c.1174-1G>T;ENST00000584130:exon5:c.486-1G>T)	.	.	0.999930329503934	0.922
18	21056970	T	A	18	23477006	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.T1174A:p.L392M;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.T1174A:p.L392M;ENSG00000101782:ENST00000339486:exon10:c.T1174A:p.L392M;ENSG00000101782:ENST00000581585:exon10:c.T1126A:p.L376M;	5.00449263812102E-5	0.0
18	21056970	T	C	18	23477006	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon10:c.T1174C:p.L392L;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.T1174C:p.L392L;ENSG00000101782:ENST00000339486:exon10:c.T1174C:p.L392L;ENSG00000101782:ENST00000581585:exon10:c.T1126C:p.L376L;	2.07294334319665E-5	0.014
18	21056970	T	G	18	23477006	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.T1174G:p.L392V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.T1174G:p.L392V;ENSG00000101782:ENST00000339486:exon10:c.T1174G:p.L392V;ENSG00000101782:ENST00000581585:exon10:c.T1126G:p.L376V;	2.8919451307004E-4	0.134
18	21056971	T	A	18	23477007	y	y	exonic	RIOK3	stopgain SNV	RIOK3:NM_003831:exon10:c.T1175A:p.L392X;	exonic	ENSG00000101782	stopgain SNV	ENSG00000101782:ENST00000577501:exon10:c.T1175A:p.L392X;ENSG00000101782:ENST00000339486:exon10:c.T1175A:p.L392X;ENSG00000101782:ENST00000581585:exon10:c.T1127A:p.L376X;	0.865781636405815	0.68
18	21056971	T	C	18	23477007	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.T1175C:p.L392S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.T1175C:p.L392S;ENSG00000101782:ENST00000339486:exon10:c.T1175C:p.L392S;ENSG00000101782:ENST00000581585:exon10:c.T1127C:p.L376S;	0.280184387243662	0.494
18	21056971	T	G	18	23477007	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.T1175G:p.L392W;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.T1175G:p.L392W;ENSG00000101782:ENST00000339486:exon10:c.T1175G:p.L392W;ENSG00000101782:ENST00000581585:exon10:c.T1127G:p.L376W;	0.510909637493739	0.624
18	21057048	A	C	18	23477084	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.A1252C:p.K418Q;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.A1252C:p.K418Q;ENSG00000101782:ENST00000339486:exon10:c.A1252C:p.K418Q;ENSG00000101782:ENST00000581585:exon10:c.A1204C:p.K402Q;	2.42464792492495E-4	0.002
18	21057048	A	G	18	23477084	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.A1252G:p.K418E;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.A1252G:p.K418E;ENSG00000101782:ENST00000339486:exon10:c.A1252G:p.K418E;ENSG00000101782:ENST00000581585:exon10:c.A1204G:p.K402E;	0.0022370978141435	0.03
18	21057048	A	T	18	23477084	y	y	exonic	RIOK3	stopgain SNV	RIOK3:NM_003831:exon10:c.A1252T:p.K418X;	exonic	ENSG00000101782	stopgain SNV	ENSG00000101782:ENST00000577501:exon10:c.A1252T:p.K418X;ENSG00000101782:ENST00000339486:exon10:c.A1252T:p.K418X;ENSG00000101782:ENST00000581585:exon10:c.A1204T:p.K402X;	0.362849654073373	0.51
18	21057049	A	C	18	23477085	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.A1253C:p.K418T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.A1253C:p.K418T;ENSG00000101782:ENST00000339486:exon10:c.A1253C:p.K418T;ENSG00000101782:ENST00000581585:exon10:c.A1205C:p.K402T;	0.986422620054726	0.898
18	21057049	A	G	18	23477085	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.A1253G:p.K418R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.A1253G:p.K418R;ENSG00000101782:ENST00000339486:exon10:c.A1253G:p.K418R;ENSG00000101782:ENST00000581585:exon10:c.A1205G:p.K402R;	0.999765953076556	0.996
18	21057049	A	T	18	23477085	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.A1253T:p.K418M;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.A1253T:p.K418M;ENSG00000101782:ENST00000339486:exon10:c.A1253T:p.K418M;ENSG00000101782:ENST00000581585:exon10:c.A1205T:p.K402M;	0.998111800686934	0.954
18	21057050	G	A	18	23477086	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon10:c.G1254A:p.K418K;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.G1254A:p.K418K;ENSG00000101782:ENST00000339486:exon10:c.G1254A:p.K418K;ENSG00000101782:ENST00000581585:exon10:c.G1206A:p.K402K;	0.999723451958591	0.968
18	21057050	G	C	18	23477086	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.G1254C:p.K418N;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.G1254C:p.K418N;ENSG00000101782:ENST00000339486:exon10:c.G1254C:p.K418N;ENSG00000101782:ENST00000581585:exon10:c.G1206C:p.K402N;	0.999991253799662	0.996
18	21057050	G	T	18	23477086	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon10:c.G1254T:p.K418N;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon10:c.G1254T:p.K418N;ENSG00000101782:ENST00000339486:exon10:c.G1254T:p.K418N;ENSG00000101782:ENST00000581585:exon10:c.G1206T:p.K402N;	0.999927608838762	0.996
18	21057051	G	A	18	23477087	y	y	splicing	RIOK3(NM_003831:exon10:c.1254+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1254+1G>A;ENST00000581585:exon10:c.1206+1G>A;ENST00000577501:exon10:c.1254+1G>A;ENST00000584130:exon5:c.566+1G>A)	.	.	0.999990361384395	0.938
18	21057051	G	C	18	23477087	y	y	splicing	RIOK3(NM_003831:exon10:c.1254+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1254+1G>C;ENST00000581585:exon10:c.1206+1G>C;ENST00000577501:exon10:c.1254+1G>C;ENST00000584130:exon5:c.566+1G>C)	.	.	0.999990361384395	0.938
18	21057051	G	T	18	23477087	y	y	splicing	RIOK3(NM_003831:exon10:c.1254+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1254+1G>T;ENST00000581585:exon10:c.1206+1G>T;ENST00000577501:exon10:c.1254+1G>T;ENST00000584130:exon5:c.566+1G>T)	.	.	0.999990361384395	0.938
18	21057052	T	A	18	23477088	y	y	splicing	RIOK3(NM_003831:exon10:c.1254+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1254+2T>A;ENST00000581585:exon10:c.1206+2T>A;ENST00000577501:exon10:c.1254+2T>A;ENST00000584130:exon5:c.566+2T>A)	.	.	0.999988247793601	0.932
18	21057052	T	C	18	23477088	y	y	splicing	RIOK3(NM_003831:exon10:c.1254+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1254+2T>C;ENST00000581585:exon10:c.1206+2T>C;ENST00000577501:exon10:c.1254+2T>C;ENST00000584130:exon5:c.566+2T>C)	.	.	0.999943260809542	0.872
18	21057052	T	G	18	23477088	y	y	splicing	RIOK3(NM_003831:exon10:c.1254+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon10:c.1254+2T>G;ENST00000581585:exon10:c.1206+2T>G;ENST00000577501:exon10:c.1254+2T>G;ENST00000584130:exon5:c.566+2T>G)	.	.	0.999988247793601	0.932
18	21057053	G	A	18	23477089	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.88722703657889E-5	0.0
18	21057053	G	C	18	23477089	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.312444160388183	0.608
18	21057053	G	T	18	23477089	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.326769474699095	0.472
18	21057054	A	C	18	23477090	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997685622250453	0.884
18	21057054	A	G	18	23477090	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998757805219874	0.904
18	21057054	A	T	18	23477090	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998294232494288	0.844
18	21057055	G	A	18	23477091	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999235847663014	0.88
18	21057055	G	C	18	23477091	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.992648146135006	0.67
18	21057055	G	T	18	23477091	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999872190453563	0.866
18	21057056	G	A	18	23477092	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.00929764789661E-4	0.006
18	21057056	G	C	18	23477092	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.05175227935808E-5	0.004
18	21057056	G	T	18	23477092	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.89157624133641E-5	0.002
18	21057057	A	C	18	23477093	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.83063522924023E-5	0.002
18	21057057	A	G	18	23477093	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.32817365268549E-4	0.002
18	21057057	A	T	18	23477093	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.37416826357921E-4	0.02
18	21057058	G	A	18	23477094	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.74319619177971E-5	0.0
18	21057058	G	C	18	23477094	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.56143956650594E-5	0.0
18	21057058	G	T	18	23477094	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.63202236298312E-5	0.0
18	21057131	G	A	18	23477167	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.8712716832945E-5	0.046
18	21057131	G	C	18	23477167	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.3958995528792E-5	0.0
18	21057131	G	T	18	23477167	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.26402543223958E-5	0.002
18	21057132	T	A	18	23477168	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.741574457290914	0.658
18	21057132	T	C	18	23477168	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0255958546314712	0.304
18	21057132	T	G	18	23477168	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.694705071129857	0.66
18	21057133	A	C	18	23477169	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.0425160059643E-5	0.026
18	21057133	A	G	18	23477169	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.13624719648813E-5	0.048
18	21057133	A	T	18	23477169	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.64982804376809E-5	0.042
18	21057134	T	A	18	23477170	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.218465620772832	0.632
18	21057134	T	C	18	23477170	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00144703428594263	0.026
18	21057134	T	G	18	23477170	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999767141165994	0.96
18	21057135	T	A	18	23477171	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999868924636132	0.972
18	21057135	T	C	18	23477171	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.02540568008065E-5	0.006
18	21057135	T	G	18	23477171	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.024861421769762	0.428
18	21057136	G	A	18	23477172	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.00868560255286E-4	0.032
18	21057136	G	C	18	23477172	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.96842035426743E-5	0.004
18	21057136	G	T	18	23477172	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.8569567240886E-5	0.026
18	21057137	A	C	18	23477173	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.93173368147704E-5	0.158
18	21057137	A	G	18	23477173	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.03225324619503E-4	0.014
18	21057137	A	T	18	23477173	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.10505285398634E-5	0.022
18	21057138	A	C	18	23477174	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0034975220679897	0.206
18	21057138	A	G	18	23477174	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998257344402217	0.932
18	21057138	A	T	18	23477174	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00364637051005029	0.264
18	21057139	A	C	18	23477175	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.65814460940931E-5	0.056
18	21057139	A	G	18	23477175	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997972168770062	0.898
18	21057139	A	T	18	23477175	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.28132929047229E-4	0.11
18	21057140	T	A	18	23477176	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0075930541922576	0.36
18	21057140	T	C	18	23477176	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.90115116750862E-6	0.084
18	21057140	T	G	18	23477176	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.786841813145606	0.538
18	21057141	A	C	18	23477177	y	y	splicing	RIOK3(NM_003831:exon11:c.1255-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1255-2A>C;ENST00000581585:exon11:c.1207-2A>C;ENST00000577501:exon11:c.1255-2A>C;ENST00000584130:exon6:c.567-2A>C)	.	.	0.999979394981131	0.912
18	21057141	A	G	18	23477177	y	y	splicing	RIOK3(NM_003831:exon11:c.1255-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1255-2A>G;ENST00000581585:exon11:c.1207-2A>G;ENST00000577501:exon11:c.1255-2A>G;ENST00000584130:exon6:c.567-2A>G)	.	.	0.999979394981131	0.912
18	21057141	A	T	18	23477177	y	y	splicing	RIOK3(NM_003831:exon11:c.1255-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1255-2A>T;ENST00000581585:exon11:c.1207-2A>T;ENST00000577501:exon11:c.1255-2A>T;ENST00000584130:exon6:c.567-2A>T)	.	.	0.999979394981131	0.912
18	21057142	G	A	18	23477178	y	y	splicing	RIOK3(NM_003831:exon11:c.1255-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1255-1G>A;ENST00000581585:exon11:c.1207-1G>A;ENST00000577501:exon11:c.1255-1G>A;ENST00000584130:exon6:c.567-1G>A)	.	.	0.999982627682474	0.908
18	21057142	G	C	18	23477178	y	y	splicing	RIOK3(NM_003831:exon11:c.1255-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1255-1G>C;ENST00000581585:exon11:c.1207-1G>C;ENST00000577501:exon11:c.1255-1G>C;ENST00000584130:exon6:c.567-1G>C)	.	.	0.999982627682474	0.908
18	21057142	G	T	18	23477178	y	y	splicing	RIOK3(NM_003831:exon11:c.1255-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1255-1G>T;ENST00000581585:exon11:c.1207-1G>T;ENST00000577501:exon11:c.1255-1G>T;ENST00000584130:exon6:c.567-1G>T)	.	.	0.999982627682474	0.908
18	21057143	G	A	18	23477179	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.G1255A:p.V419I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.G1255A:p.V419I;ENSG00000101782:ENST00000339486:exon11:c.G1255A:p.V419I;ENSG00000101782:ENST00000581585:exon11:c.G1207A:p.V403I;	0.946254873944613	0.828
18	21057143	G	C	18	23477179	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.G1255C:p.V419L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.G1255C:p.V419L;ENSG00000101782:ENST00000339486:exon11:c.G1255C:p.V419L;ENSG00000101782:ENST00000581585:exon11:c.G1207C:p.V403L;	0.994773045783615	0.928
18	21057143	G	T	18	23477179	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.G1255T:p.V419F;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.G1255T:p.V419F;ENSG00000101782:ENST00000339486:exon11:c.G1255T:p.V419F;ENSG00000101782:ENST00000581585:exon11:c.G1207T:p.V403F;	0.9983112730043	0.956
18	21057144	T	A	18	23477180	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.T1256A:p.V419D;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.T1256A:p.V419D;ENSG00000101782:ENST00000339486:exon11:c.T1256A:p.V419D;ENSG00000101782:ENST00000581585:exon11:c.T1208A:p.V403D;	0.544589595008206	0.526
18	21057144	T	C	18	23477180	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.T1256C:p.V419A;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.T1256C:p.V419A;ENSG00000101782:ENST00000339486:exon11:c.T1256C:p.V419A;ENSG00000101782:ENST00000581585:exon11:c.T1208C:p.V403A;	0.531434145738337	0.52
18	21057144	T	G	18	23477180	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.T1256G:p.V419G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.T1256G:p.V419G;ENSG00000101782:ENST00000339486:exon11:c.T1256G:p.V419G;ENSG00000101782:ENST00000581585:exon11:c.T1208G:p.V403G;	0.531434145738337	0.518
18	21057230	C	A	18	23477266	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.C1342A:p.Q448K;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.C1342A:p.Q448K;ENSG00000101782:ENST00000339486:exon11:c.C1342A:p.Q448K;ENSG00000101782:ENST00000577250:exon1:c.C79A:p.Q27K;ENSG00000101782:ENST00000581585:exon11:c.C1294A:p.Q432K;	0.967766416655344	0.68
18	21057230	C	G	18	23477266	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.C1342G:p.Q448E;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.C1342G:p.Q448E;ENSG00000101782:ENST00000339486:exon11:c.C1342G:p.Q448E;ENSG00000101782:ENST00000577250:exon1:c.C79G:p.Q27E;ENSG00000101782:ENST00000581585:exon11:c.C1294G:p.Q432E;	0.993328608228641	0.756
18	21057230	C	T	18	23477266	y	y	exonic	RIOK3	stopgain SNV	RIOK3:NM_003831:exon11:c.C1342T:p.Q448X;	exonic	ENSG00000101782	stopgain SNV	ENSG00000101782:ENST00000577501:exon11:c.C1342T:p.Q448X;ENSG00000101782:ENST00000339486:exon11:c.C1342T:p.Q448X;ENSG00000101782:ENST00000577250:exon1:c.C79T:p.Q27X;ENSG00000101782:ENST00000581585:exon11:c.C1294T:p.Q432X;	0.999920248482185	0.992
18	21057231	A	C	18	23477267	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.A1343C:p.Q448P;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.A1343C:p.Q448P;ENSG00000101782:ENST00000339486:exon11:c.A1343C:p.Q448P;ENSG00000101782:ENST00000577250:exon1:c.A80C:p.Q27P;ENSG00000101782:ENST00000581585:exon11:c.A1295C:p.Q432P;	0.999687792337141	0.992
18	21057231	A	G	18	23477267	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.A1343G:p.Q448R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.A1343G:p.Q448R;ENSG00000101782:ENST00000339486:exon11:c.A1343G:p.Q448R;ENSG00000101782:ENST00000577250:exon1:c.A80G:p.Q27R;ENSG00000101782:ENST00000581585:exon11:c.A1295G:p.Q432R;	0.999789399064813	0.994
18	21057231	A	T	18	23477267	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.A1343T:p.Q448L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.A1343T:p.Q448L;ENSG00000101782:ENST00000339486:exon11:c.A1343T:p.Q448L;ENSG00000101782:ENST00000577250:exon1:c.A80T:p.Q27L;ENSG00000101782:ENST00000581585:exon11:c.A1295T:p.Q432L;	0.999965268008453	1.0
18	21057232	G	A	18	23477268	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon11:c.G1344A:p.Q448Q;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.G1344A:p.Q448Q;ENSG00000101782:ENST00000339486:exon11:c.G1344A:p.Q448Q;ENSG00000101782:ENST00000577250:exon1:c.G81A:p.Q27Q;ENSG00000101782:ENST00000581585:exon11:c.G1296A:p.Q432Q;	0.999993968085153	0.992
18	21057232	G	C	18	23477268	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.G1344C:p.Q448H;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.G1344C:p.Q448H;ENSG00000101782:ENST00000339486:exon11:c.G1344C:p.Q448H;ENSG00000101782:ENST00000577250:exon1:c.G81C:p.Q27H;ENSG00000101782:ENST00000581585:exon11:c.G1296C:p.Q432H;	0.999995984176524	0.998
18	21057232	G	T	18	23477268	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon11:c.G1344T:p.Q448H;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon11:c.G1344T:p.Q448H;ENSG00000101782:ENST00000339486:exon11:c.G1344T:p.Q448H;ENSG00000101782:ENST00000577250:exon1:c.G81T:p.Q27H;ENSG00000101782:ENST00000581585:exon11:c.G1296T:p.Q432H;	0.999987442194484	0.956
18	21057233	G	A	18	23477269	y	y	splicing	RIOK3(NM_003831:exon11:c.1344+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1344+1G>A;ENST00000581585:exon11:c.1296+1G>A;ENST00000577501:exon11:c.1344+1G>A;ENST00000577250:exon1:c.81+1G>A)	.	.	0.999990361384395	0.93
18	21057233	G	C	18	23477269	y	y	splicing	RIOK3(NM_003831:exon11:c.1344+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1344+1G>C;ENST00000581585:exon11:c.1296+1G>C;ENST00000577501:exon11:c.1344+1G>C;ENST00000577250:exon1:c.81+1G>C)	.	.	0.999990361384395	0.93
18	21057233	G	T	18	23477269	y	y	splicing	RIOK3(NM_003831:exon11:c.1344+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1344+1G>T;ENST00000581585:exon11:c.1296+1G>T;ENST00000577501:exon11:c.1344+1G>T;ENST00000577250:exon1:c.81+1G>T)	.	.	0.999990361384395	0.93
18	21057234	T	A	18	23477270	y	y	splicing	RIOK3(NM_003831:exon11:c.1344+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1344+2T>A;ENST00000581585:exon11:c.1296+2T>A;ENST00000577501:exon11:c.1344+2T>A;ENST00000577250:exon1:c.81+2T>A)	.	.	0.999988247793601	0.922
18	21057234	T	C	18	23477270	y	y	splicing	RIOK3(NM_003831:exon11:c.1344+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1344+2T>C;ENST00000581585:exon11:c.1296+2T>C;ENST00000577501:exon11:c.1344+2T>C;ENST00000577250:exon1:c.81+2T>C)	.	.	0.994669226766359	0.696
18	21057234	T	G	18	23477270	y	y	splicing	RIOK3(NM_003831:exon11:c.1344+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon11:c.1344+2T>G;ENST00000581585:exon11:c.1296+2T>G;ENST00000577501:exon11:c.1344+2T>G;ENST00000577250:exon1:c.81+2T>G)	.	.	0.999988247793601	0.922
18	21057235	A	C	18	23477271	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999933399688445	0.87
18	21057235	A	G	18	23477271	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.937406196261099	0.81
18	21057235	A	T	18	23477271	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999919503429221	0.866
18	21057236	G	A	18	23477272	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.1596095052364E-4	0.066
18	21057236	G	C	18	23477272	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.91624894158762E-5	0.15
18	21057236	G	T	18	23477272	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.56248410689156E-5	0.014
18	21057237	A	C	18	23477273	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.26664208724057E-4	0.088
18	21057237	A	G	18	23477273	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.55525320264504E-5	0.06
18	21057237	A	T	18	23477273	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.25999694514369E-4	0.074
18	21057238	C	A	18	23477274	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.01561346202993E-4	0.0
18	21057238	C	G	18	23477274	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.8695722241652E-5	0.004
18	21057238	C	T	18	23477274	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.91058154597018E-5	0.006
18	21057239	G	A	18	23477275	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.07945584914448E-4	0.002
18	21057239	G	C	18	23477275	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.02766321354153E-5	0.004
18	21057239	G	T	18	23477275	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.25766672437222E-4	0.014
18	21057240	T	A	18	23477276	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.53951002467383E-4	0.02
18	21057240	T	C	18	23477276	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0066361811547257	0.014
18	21057240	T	G	18	23477276	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00408320717468591	0.008
18	21059269	T	A	18	23479305	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.972112180830655	0.82
18	21059269	T	C	18	23479305	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00819319074427294	0.13
18	21059269	T	G	18	23479305	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999935229715644	0.946
18	21059270	T	A	18	23479306	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.919270748542413	0.756
18	21059270	T	C	18	23479306	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00115182691799774	0.152
18	21059270	T	G	18	23479306	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.792392438211296	0.716
18	21059271	T	A	18	23479307	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.7075126427477	0.68
18	21059271	T	C	18	23479307	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.28303913784504E-4	0.02
18	21059271	T	G	18	23479307	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.70135375245244	0.658
18	21059272	C	A	18	23479308	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00289745149946792	0.136
18	21059272	C	G	18	23479308	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00208108127814054	0.178
18	21059272	C	T	18	23479308	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.19172324161851E-5	0.0
18	21059273	C	A	18	23479309	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00122424738652694	0.042
18	21059273	C	G	18	23479309	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.98237018941678E-4	0.018
18	21059273	C	T	18	23479309	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.5137306291661E-5	0.0
18	21059274	T	A	18	23479310	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00445455252484499	0.054
18	21059274	T	C	18	23479310	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.48843087712228E-5	0.0
18	21059274	T	G	18	23479310	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00237655273788937	0.038
18	21059275	T	A	18	23479311	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0823330350287297	0.38
18	21059275	T	C	18	23479311	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.20662427078633E-4	0.0
18	21059275	T	G	18	23479311	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.123847890410884	0.416
18	21059276	A	C	18	23479312	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.75204939455817E-5	0.006
18	21059276	A	G	18	23479312	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	9.02028917681806E-5	0.032
18	21059276	A	T	18	23479312	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.77636172644986E-4	0.032
18	21059277	C	A	18	23479313	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.83603917101802E-5	0.016
18	21059277	C	G	18	23479313	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.998885996380509	0.94
18	21059277	C	T	18	23479313	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.17236061024758E-4	0.018
18	21059278	T	A	18	23479314	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0244447271698976	0.284
18	21059278	T	C	18	23479314	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.45231742922136E-5	0.008
18	21059278	T	G	18	23479314	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.988721199493811	0.704
18	21059279	A	C	18	23479315	y	y	splicing	RIOK3(NM_003831:exon12:c.1345-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1345-2A>C;ENST00000581585:exon12:c.1297-2A>C;ENST00000577250:exon2:c.82-2A>C)	.	.	0.999988247793601	0.93
18	21059279	A	G	18	23479315	y	y	splicing	RIOK3(NM_003831:exon12:c.1345-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1345-2A>G;ENST00000581585:exon12:c.1297-2A>G;ENST00000577250:exon2:c.82-2A>G)	.	.	0.999988247793601	0.93
18	21059279	A	T	18	23479315	y	y	splicing	RIOK3(NM_003831:exon12:c.1345-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1345-2A>T;ENST00000581585:exon12:c.1297-2A>T;ENST00000577250:exon2:c.82-2A>T)	.	.	0.999988247793601	0.93
18	21059280	G	A	18	23479316	y	y	splicing	RIOK3(NM_003831:exon12:c.1345-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1345-1G>A;ENST00000581585:exon12:c.1297-1G>A;ENST00000577250:exon2:c.82-1G>A)	.	.	0.999989072007339	0.93
18	21059280	G	C	18	23479316	y	y	splicing	RIOK3(NM_003831:exon12:c.1345-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1345-1G>C;ENST00000581585:exon12:c.1297-1G>C;ENST00000577250:exon2:c.82-1G>C)	.	.	0.999989072007339	0.93
18	21059280	G	T	18	23479316	y	y	splicing	RIOK3(NM_003831:exon12:c.1345-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1345-1G>T;ENST00000581585:exon12:c.1297-1G>T;ENST00000577250:exon2:c.82-1G>T)	.	.	0.999989072007339	0.93
18	21059281	T	A	18	23479317	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.T1345A:p.F449I;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000339486:exon12:c.T1345A:p.F449I;ENSG00000101782:ENST00000577250:exon2:c.T82A:p.F28I;ENSG00000101782:ENST00000581585:exon12:c.T1297A:p.F433I;	0.554039289473754	0.594
18	21059281	T	C	18	23479317	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.T1345C:p.F449L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000339486:exon12:c.T1345C:p.F449L;ENSG00000101782:ENST00000577250:exon2:c.T82C:p.F28L;ENSG00000101782:ENST00000581585:exon12:c.T1297C:p.F433L;	0.67147804360277	0.498
18	21059281	T	G	18	23479317	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.T1345G:p.F449V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000339486:exon12:c.T1345G:p.F449V;ENSG00000101782:ENST00000577250:exon2:c.T82G:p.F28V;ENSG00000101782:ENST00000581585:exon12:c.T1297G:p.F433V;	0.393445120550923	0.376
18	21059282	T	A	18	23479318	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.T1346A:p.F449Y;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000339486:exon12:c.T1346A:p.F449Y;ENSG00000101782:ENST00000577250:exon2:c.T83A:p.F28Y;ENSG00000101782:ENST00000581585:exon12:c.T1298A:p.F433Y;	0.469136660254643	0.29
18	21059282	T	C	18	23479318	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.T1346C:p.F449S;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000339486:exon12:c.T1346C:p.F449S;ENSG00000101782:ENST00000577250:exon2:c.T83C:p.F28S;ENSG00000101782:ENST00000581585:exon12:c.T1298C:p.F433S;	0.232412789072908	0.308
18	21059282	T	G	18	23479318	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.T1346G:p.F449C;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000339486:exon12:c.T1346G:p.F449C;ENSG00000101782:ENST00000577250:exon2:c.T83G:p.F28C;ENSG00000101782:ENST00000581585:exon12:c.T1298G:p.F433C;	0.497488835373604	0.218
18	21059386	G	A	18	23479422	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.G1450A:p.E484K;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon12:c.G1441A:p.E481K;ENSG00000101782:ENST00000339486:exon12:c.G1450A:p.E484K;ENSG00000101782:ENST00000577250:exon2:c.G187A:p.E63K;ENSG00000101782:ENST00000581585:exon12:c.G1402A:p.E468K;	0.950237228146541	0.686
18	21059386	G	C	18	23479422	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.G1450C:p.E484Q;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon12:c.G1441C:p.E481Q;ENSG00000101782:ENST00000339486:exon12:c.G1450C:p.E484Q;ENSG00000101782:ENST00000577250:exon2:c.G187C:p.E63Q;ENSG00000101782:ENST00000581585:exon12:c.G1402C:p.E468Q;	0.265399592300176	0.374
18	21059386	G	T	18	23479422	y	y	exonic	RIOK3	stopgain SNV	RIOK3:NM_003831:exon12:c.G1450T:p.E484X;	exonic	ENSG00000101782	stopgain SNV	ENSG00000101782:ENST00000577501:exon12:c.G1441T:p.E481X;ENSG00000101782:ENST00000339486:exon12:c.G1450T:p.E484X;ENSG00000101782:ENST00000577250:exon2:c.G187T:p.E63X;ENSG00000101782:ENST00000581585:exon12:c.G1402T:p.E468X;	0.98465128869272	0.834
18	21059387	A	C	18	23479423	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.A1451C:p.E484A;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon12:c.A1442C:p.E481A;ENSG00000101782:ENST00000339486:exon12:c.A1451C:p.E484A;ENSG00000101782:ENST00000577250:exon2:c.A188C:p.E63A;ENSG00000101782:ENST00000581585:exon12:c.A1403C:p.E468A;	0.991972915439245	0.944
18	21059387	A	G	18	23479423	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.A1451G:p.E484G;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon12:c.A1442G:p.E481G;ENSG00000101782:ENST00000339486:exon12:c.A1451G:p.E484G;ENSG00000101782:ENST00000577250:exon2:c.A188G:p.E63G;ENSG00000101782:ENST00000581585:exon12:c.A1403G:p.E468G;	0.999854341242328	0.974
18	21059387	A	T	18	23479423	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.A1451T:p.E484V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon12:c.A1442T:p.E481V;ENSG00000101782:ENST00000339486:exon12:c.A1451T:p.E484V;ENSG00000101782:ENST00000577250:exon2:c.A188T:p.E63V;ENSG00000101782:ENST00000581585:exon12:c.A1403T:p.E468V;	0.999650161666274	0.998
18	21059388	G	A	18	23479424	y	y	exonic	RIOK3	synonymous SNV	RIOK3:NM_003831:exon12:c.G1452A:p.E484E;	exonic	ENSG00000101782	synonymous SNV	ENSG00000101782:ENST00000577501:exon12:c.G1443A:p.E481E;ENSG00000101782:ENST00000339486:exon12:c.G1452A:p.E484E;ENSG00000101782:ENST00000577250:exon2:c.G189A:p.E63E;ENSG00000101782:ENST00000581585:exon12:c.G1404A:p.E468E;	0.994622367841147	0.872
18	21059388	G	C	18	23479424	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.G1452C:p.E484D;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon12:c.G1443C:p.E481D;ENSG00000101782:ENST00000339486:exon12:c.G1452C:p.E484D;ENSG00000101782:ENST00000577250:exon2:c.G189C:p.E63D;ENSG00000101782:ENST00000581585:exon12:c.G1404C:p.E468D;	0.99937225961661	0.78
18	21059388	G	T	18	23479424	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon12:c.G1452T:p.E484D;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon12:c.G1443T:p.E481D;ENSG00000101782:ENST00000339486:exon12:c.G1452T:p.E484D;ENSG00000101782:ENST00000577250:exon2:c.G189T:p.E63D;ENSG00000101782:ENST00000581585:exon12:c.G1404T:p.E468D;	0.9941857067572	0.912
18	21059389	G	A	18	23479425	y	y	splicing	RIOK3(NM_003831:exon12:c.1452+1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1452+1G>A;ENST00000581585:exon12:c.1404+1G>A;ENST00000577501:exon12:c.1443+1G>A;ENST00000577250:exon2:c.189+1G>A)	.	.	0.999990361384395	0.938
18	21059389	G	C	18	23479425	y	y	splicing	RIOK3(NM_003831:exon12:c.1452+1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1452+1G>C;ENST00000581585:exon12:c.1404+1G>C;ENST00000577501:exon12:c.1443+1G>C;ENST00000577250:exon2:c.189+1G>C)	.	.	0.999990361384395	0.938
18	21059389	G	T	18	23479425	y	y	splicing	RIOK3(NM_003831:exon12:c.1452+1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1452+1G>T;ENST00000581585:exon12:c.1404+1G>T;ENST00000577501:exon12:c.1443+1G>T;ENST00000577250:exon2:c.189+1G>T)	.	.	0.999990361384395	0.938
18	21059390	T	A	18	23479426	y	y	splicing	RIOK3(NM_003831:exon12:c.1452+2T>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1452+2T>A;ENST00000581585:exon12:c.1404+2T>A;ENST00000577501:exon12:c.1443+2T>A;ENST00000577250:exon2:c.189+2T>A)	.	.	0.999988247793601	0.93
18	21059390	T	C	18	23479426	y	y	splicing	RIOK3(NM_003831:exon12:c.1452+2T>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1452+2T>C;ENST00000581585:exon12:c.1404+2T>C;ENST00000577501:exon12:c.1443+2T>C;ENST00000577250:exon2:c.189+2T>C)	.	.	0.990421288966688	0.678
18	21059390	T	G	18	23479426	y	y	splicing	RIOK3(NM_003831:exon12:c.1452+2T>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon12:c.1452+2T>G;ENST00000581585:exon12:c.1404+2T>G;ENST00000577501:exon12:c.1443+2T>G;ENST00000577250:exon2:c.189+2T>G)	.	.	0.999988247793601	0.93
18	21059391	A	C	18	23479427	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.790686697444414	0.454
18	21059391	A	G	18	23479427	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.101011841187148	0.41
18	21059391	A	T	18	23479427	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.829809095696156	0.446
18	21059392	T	A	18	23479428	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.59121656421466E-5	0.02
18	21059392	T	C	18	23479428	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.62955247833993E-5	0.002
18	21059392	T	G	18	23479428	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.69244293433793E-4	0.004
18	21059393	G	A	18	23479429	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.819004095038576	0.704
18	21059393	G	C	18	23479429	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.799393587195666	0.638
18	21059393	G	T	18	23479429	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.193142907110831	0.6
18	21059394	T	A	18	23479430	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0700148084719532	0.292
18	21059394	T	C	18	23479430	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00957572087642457	0.25
18	21059394	T	G	18	23479430	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0112157990192138	0.26
18	21059395	G	A	18	23479431	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.87583558517443E-5	0.0
18	21059395	G	C	18	23479431	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.87583558517443E-5	0.0
18	21059395	G	T	18	23479431	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.13863151348338E-5	0.0
18	21059396	A	C	18	23479432	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.53397514882839E-5	0.0
18	21059396	A	G	18	23479432	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.34088995096756E-5	0.0
18	21059396	A	T	18	23479432	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.86075475573093E-5	0.0
18	21061124	T	A	18	23481160	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.720310087256881	0.57
18	21061124	T	C	18	23481160	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00154343867937681	0.062
18	21061124	T	G	18	23481160	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.999963406014269	0.94
18	21061125	T	A	18	23481161	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.265615128418367	0.332
18	21061125	T	C	18	23481161	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.0654612349892E-4	0.072
18	21061125	T	G	18	23481161	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0713078236538242	0.284
18	21061126	A	C	18	23481162	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	6.57355472454578E-5	0.012
18	21061126	A	G	18	23481162	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.4166560648282E-5	0.0
18	21061126	A	T	18	23481162	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.18499764559133E-4	0.008
18	21061127	T	A	18	23481163	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00461377356711562	0.13
18	21061127	T	C	18	23481163	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.44608671029832E-4	0.004
18	21061127	T	G	18	23481163	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.997698711446855	0.962
18	21061128	T	A	18	23481164	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.477874926617986	0.442
18	21061128	T	C	18	23481164	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	5.26430234826255E-4	0.028
18	21061128	T	G	18	23481164	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.207917342234049	0.41
18	21061129	T	A	18	23481165	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.138159276488386	0.304
18	21061129	T	C	18	23481165	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	1.76792732012208E-4	0.006
18	21061129	T	G	18	23481165	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0514878550789603	0.25
18	21061130	T	A	18	23481166	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0585815807285051	0.346
18	21061130	T	C	18	23481166	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	2.83005109157534E-4	0.02
18	21061130	T	G	18	23481166	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.0881378632576724	0.35
18	21061131	T	A	18	23481167	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.99724107796025	0.942
18	21061131	T	C	18	23481167	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	7.39925472147177E-4	0.034
18	21061131	T	G	18	23481167	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.449117112929956	0.428
18	21061132	G	A	18	23481168	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.84945320919721E-5	0.002
18	21061132	G	C	18	23481168	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	4.34418184055413E-5	0.0
18	21061132	G	T	18	23481168	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	8.77477899022773E-5	0.0
18	21061133	T	A	18	23481169	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.00190437302167006	0.092
18	21061133	T	C	18	23481169	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	3.46466525068362E-5	0.004
18	21061133	T	G	18	23481169	y	y	intronic	RIOK3	.	.	intronic	ENSG00000101782	.	.	0.96000148574644	0.664
18	21061134	A	C	18	23481170	y	y	splicing	RIOK3(NM_003831:exon13:c.1453-2A>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon13:c.1453-2A>C;ENST00000581585:exon13:c.1405-2A>C;ENST00000577501:exon13:c.1444-2A>C)	.	.	0.999988247793601	0.928
18	21061134	A	G	18	23481170	y	y	splicing	RIOK3(NM_003831:exon13:c.1453-2A>G)	.	.	splicing	ENSG00000101782(ENST00000339486:exon13:c.1453-2A>G;ENST00000581585:exon13:c.1405-2A>G;ENST00000577501:exon13:c.1444-2A>G)	.	.	0.999988247793601	0.928
18	21061134	A	T	18	23481170	y	y	splicing	RIOK3(NM_003831:exon13:c.1453-2A>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon13:c.1453-2A>T;ENST00000581585:exon13:c.1405-2A>T;ENST00000577501:exon13:c.1444-2A>T)	.	.	0.999988247793601	0.928
18	21061135	G	A	18	23481171	y	y	splicing	RIOK3(NM_003831:exon13:c.1453-1G>A)	.	.	splicing	ENSG00000101782(ENST00000339486:exon13:c.1453-1G>A;ENST00000581585:exon13:c.1405-1G>A;ENST00000577501:exon13:c.1444-1G>A)	.	.	0.999990361384395	0.938
18	21061135	G	C	18	23481171	y	y	splicing	RIOK3(NM_003831:exon13:c.1453-1G>C)	.	.	splicing	ENSG00000101782(ENST00000339486:exon13:c.1453-1G>C;ENST00000581585:exon13:c.1405-1G>C;ENST00000577501:exon13:c.1444-1G>C)	.	.	0.999990361384395	0.938
18	21061135	G	T	18	23481171	y	y	splicing	RIOK3(NM_003831:exon13:c.1453-1G>T)	.	.	splicing	ENSG00000101782(ENST00000339486:exon13:c.1453-1G>T;ENST00000581585:exon13:c.1405-1G>T;ENST00000577501:exon13:c.1444-1G>T)	.	.	0.999990361384395	0.938
18	21061136	A	C	18	23481172	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon13:c.A1453C:p.I485L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon13:c.A1444C:p.I482L;ENSG00000101782:ENST00000339486:exon13:c.A1453C:p.I485L;ENSG00000101782:ENST00000581585:exon13:c.A1405C:p.I469L;	0.697443675014643	0.73
18	21061136	A	G	18	23481172	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon13:c.A1453G:p.I485V;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon13:c.A1444G:p.I482V;ENSG00000101782:ENST00000339486:exon13:c.A1453G:p.I485V;ENSG00000101782:ENST00000581585:exon13:c.A1405G:p.I469V;	0.0031434373051132	0.044
18	21061136	A	T	18	23481172	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon13:c.A1453T:p.I485L;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon13:c.A1444T:p.I482L;ENSG00000101782:ENST00000339486:exon13:c.A1453T:p.I485L;ENSG00000101782:ENST00000581585:exon13:c.A1405T:p.I469L;	0.679225978757288	0.616
18	21061137	T	A	18	23481173	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon13:c.T1454A:p.I485K;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon13:c.T1445A:p.I482K;ENSG00000101782:ENST00000339486:exon13:c.T1454A:p.I485K;ENSG00000101782:ENST00000581585:exon13:c.T1406A:p.I469K;	0.563704758202013	0.646
18	21061137	T	C	18	23481173	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon13:c.T1454C:p.I485T;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon13:c.T1445C:p.I482T;ENSG00000101782:ENST00000339486:exon13:c.T1454C:p.I485T;ENSG00000101782:ENST00000581585:exon13:c.T1406C:p.I469T;	0.55099164028665	0.632
18	21061137	T	G	18	23481173	y	y	exonic	RIOK3	nonsynonymous SNV	RIOK3:NM_003831:exon13:c.T1454G:p.I485R;	exonic	ENSG00000101782	nonsynonymous SNV	ENSG00000101782:ENST00000577501:exon13:c.T1445G:p.I482R;ENSG00000101782:ENST00000339486:exon13:c.T1454G:p.I485R;ENSG00000101782:ENST00000581585:exon13:c.T1406G:p.I469R;	0.820394531772713	0.646
18	21083682	C	A	18	23503718	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon1:c.C100A:p.Q34K;C18orf8:NM_001276342:exon1:c.C100A:p.Q34K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon1:c.C100A:p.Q34K;ENSG00000141452:ENST00000589215:exon1:c.C100A:p.Q34K;ENSG00000141452:ENST00000269221:exon1:c.C100A:p.Q34K;ENSG00000141452:ENST00000589860:exon1:c.C100A:p.Q34K;ENSG00000141452:ENST00000587690:exon1:c.C100A:p.Q34K;ENSG00000141452:ENST00000590870:exon1:c.C100A:p.Q34K;ENSG00000141452:ENST00000590868:exon1:c.C100A:p.Q34K;	0.617774633321441	0.632
18	21083682	C	G	18	23503718	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon1:c.C100G:p.Q34E;C18orf8:NM_001276342:exon1:c.C100G:p.Q34E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon1:c.C100G:p.Q34E;ENSG00000141452:ENST00000589215:exon1:c.C100G:p.Q34E;ENSG00000141452:ENST00000269221:exon1:c.C100G:p.Q34E;ENSG00000141452:ENST00000589860:exon1:c.C100G:p.Q34E;ENSG00000141452:ENST00000587690:exon1:c.C100G:p.Q34E;ENSG00000141452:ENST00000590870:exon1:c.C100G:p.Q34E;ENSG00000141452:ENST00000590868:exon1:c.C100G:p.Q34E;	0.90573952032655	0.598
18	21083682	C	T	18	23503718	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon1:c.C100T:p.Q34X;C18orf8:NM_001276342:exon1:c.C100T:p.Q34X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000592119:exon1:c.C100T:p.Q34X;ENSG00000141452:ENST00000589215:exon1:c.C100T:p.Q34X;ENSG00000141452:ENST00000269221:exon1:c.C100T:p.Q34X;ENSG00000141452:ENST00000589860:exon1:c.C100T:p.Q34X;ENSG00000141452:ENST00000587690:exon1:c.C100T:p.Q34X;ENSG00000141452:ENST00000590870:exon1:c.C100T:p.Q34X;ENSG00000141452:ENST00000590868:exon1:c.C100T:p.Q34X;	0.999839674883532	0.964
18	21083683	A	C	18	23503719	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon1:c.A101C:p.Q34P;C18orf8:NM_001276342:exon1:c.A101C:p.Q34P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon1:c.A101C:p.Q34P;ENSG00000141452:ENST00000589215:exon1:c.A101C:p.Q34P;ENSG00000141452:ENST00000269221:exon1:c.A101C:p.Q34P;ENSG00000141452:ENST00000589860:exon1:c.A101C:p.Q34P;ENSG00000141452:ENST00000587690:exon1:c.A101C:p.Q34P;ENSG00000141452:ENST00000590870:exon1:c.A101C:p.Q34P;ENSG00000141452:ENST00000590868:exon1:c.A101C:p.Q34P;	0.999906113229627	0.974
18	21083683	A	G	18	23503719	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon1:c.A101G:p.Q34R;C18orf8:NM_001276342:exon1:c.A101G:p.Q34R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon1:c.A101G:p.Q34R;ENSG00000141452:ENST00000589215:exon1:c.A101G:p.Q34R;ENSG00000141452:ENST00000269221:exon1:c.A101G:p.Q34R;ENSG00000141452:ENST00000589860:exon1:c.A101G:p.Q34R;ENSG00000141452:ENST00000587690:exon1:c.A101G:p.Q34R;ENSG00000141452:ENST00000590870:exon1:c.A101G:p.Q34R;ENSG00000141452:ENST00000590868:exon1:c.A101G:p.Q34R;	0.999971061904579	0.994
18	21083683	A	T	18	23503719	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon1:c.A101T:p.Q34L;C18orf8:NM_001276342:exon1:c.A101T:p.Q34L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon1:c.A101T:p.Q34L;ENSG00000141452:ENST00000589215:exon1:c.A101T:p.Q34L;ENSG00000141452:ENST00000269221:exon1:c.A101T:p.Q34L;ENSG00000141452:ENST00000589860:exon1:c.A101T:p.Q34L;ENSG00000141452:ENST00000587690:exon1:c.A101T:p.Q34L;ENSG00000141452:ENST00000590870:exon1:c.A101T:p.Q34L;ENSG00000141452:ENST00000590868:exon1:c.A101T:p.Q34L;	0.999964249060284	0.992
18	21083684	G	A	18	23503720	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon1:c.G102A:p.Q34Q;C18orf8:NM_001276342:exon1:c.G102A:p.Q34Q;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000592119:exon1:c.G102A:p.Q34Q;ENSG00000141452:ENST00000589215:exon1:c.G102A:p.Q34Q;ENSG00000141452:ENST00000269221:exon1:c.G102A:p.Q34Q;ENSG00000141452:ENST00000589860:exon1:c.G102A:p.Q34Q;ENSG00000141452:ENST00000587690:exon1:c.G102A:p.Q34Q;ENSG00000141452:ENST00000590870:exon1:c.G102A:p.Q34Q;ENSG00000141452:ENST00000590868:exon1:c.G102A:p.Q34Q;	0.999995516634864	0.988
18	21083684	G	C	18	23503720	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon1:c.G102C:p.Q34H;C18orf8:NM_001276342:exon1:c.G102C:p.Q34H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon1:c.G102C:p.Q34H;ENSG00000141452:ENST00000589215:exon1:c.G102C:p.Q34H;ENSG00000141452:ENST00000269221:exon1:c.G102C:p.Q34H;ENSG00000141452:ENST00000589860:exon1:c.G102C:p.Q34H;ENSG00000141452:ENST00000587690:exon1:c.G102C:p.Q34H;ENSG00000141452:ENST00000590870:exon1:c.G102C:p.Q34H;ENSG00000141452:ENST00000590868:exon1:c.G102C:p.Q34H;	0.999998552309962	1.0
18	21083684	G	T	18	23503720	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon1:c.G102T:p.Q34H;C18orf8:NM_001276342:exon1:c.G102T:p.Q34H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon1:c.G102T:p.Q34H;ENSG00000141452:ENST00000589215:exon1:c.G102T:p.Q34H;ENSG00000141452:ENST00000269221:exon1:c.G102T:p.Q34H;ENSG00000141452:ENST00000589860:exon1:c.G102T:p.Q34H;ENSG00000141452:ENST00000587690:exon1:c.G102T:p.Q34H;ENSG00000141452:ENST00000590870:exon1:c.G102T:p.Q34H;ENSG00000141452:ENST00000590868:exon1:c.G102T:p.Q34H;	0.999993003591081	0.998
18	21083685	G	A	18	23503721	y	y	splicing	C18orf8(NM_001276342:exon1:c.102+1G>A;NM_013326:exon1:c.102+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon1:c.102+1G>A;ENST00000589215:exon1:c.102+1G>A;ENST00000590868:exon1:c.102+1G>A;ENST00000587690:exon1:c.102+1G>A;ENST00000589860:exon1:c.102+1G>A;ENST00000590870:exon1:c.102+1G>A;ENST00000592119:exon1:c.102+1G>A)	.	.	0.999988067450041	0.936
18	21083685	G	C	18	23503721	y	y	splicing	C18orf8(NM_001276342:exon1:c.102+1G>C;NM_013326:exon1:c.102+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon1:c.102+1G>C;ENST00000589215:exon1:c.102+1G>C;ENST00000590868:exon1:c.102+1G>C;ENST00000587690:exon1:c.102+1G>C;ENST00000589860:exon1:c.102+1G>C;ENST00000590870:exon1:c.102+1G>C;ENST00000592119:exon1:c.102+1G>C)	.	.	0.999988067450041	0.936
18	21083685	G	T	18	23503721	y	y	splicing	C18orf8(NM_001276342:exon1:c.102+1G>T;NM_013326:exon1:c.102+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon1:c.102+1G>T;ENST00000589215:exon1:c.102+1G>T;ENST00000590868:exon1:c.102+1G>T;ENST00000587690:exon1:c.102+1G>T;ENST00000589860:exon1:c.102+1G>T;ENST00000590870:exon1:c.102+1G>T;ENST00000592119:exon1:c.102+1G>T)	.	.	0.999988067450041	0.936
18	21083686	T	A	18	23503722	y	y	splicing	C18orf8(NM_001276342:exon1:c.102+2T>A;NM_013326:exon1:c.102+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon1:c.102+2T>A;ENST00000589215:exon1:c.102+2T>A;ENST00000590868:exon1:c.102+2T>A;ENST00000587690:exon1:c.102+2T>A;ENST00000589860:exon1:c.102+2T>A;ENST00000590870:exon1:c.102+2T>A;ENST00000592119:exon1:c.102+2T>A)	.	.	0.999981530324659	0.86
18	21083686	T	C	18	23503722	y	y	splicing	C18orf8(NM_001276342:exon1:c.102+2T>C;NM_013326:exon1:c.102+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon1:c.102+2T>C;ENST00000589215:exon1:c.102+2T>C;ENST00000590868:exon1:c.102+2T>C;ENST00000587690:exon1:c.102+2T>C;ENST00000589860:exon1:c.102+2T>C;ENST00000590870:exon1:c.102+2T>C;ENST00000592119:exon1:c.102+2T>C)	.	.	0.999792944411716	0.852
18	21083686	T	G	18	23503722	y	y	splicing	C18orf8(NM_001276342:exon1:c.102+2T>G;NM_013326:exon1:c.102+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon1:c.102+2T>G;ENST00000589215:exon1:c.102+2T>G;ENST00000590868:exon1:c.102+2T>G;ENST00000587690:exon1:c.102+2T>G;ENST00000589860:exon1:c.102+2T>G;ENST00000590870:exon1:c.102+2T>G;ENST00000592119:exon1:c.102+2T>G)	.	.	0.999981530324659	0.86
18	21083687	C	A	18	23503723	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.15959324094375E-4	0.058
18	21083687	C	G	18	23503723	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	8.87308344592957E-4	0.118
18	21083687	C	T	18	23503723	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.68520653110479E-4	0.03
18	21083688	C	A	18	23503724	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	6.81686622394136E-5	0.022
18	21083688	C	G	18	23503724	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	7.23839643762637E-5	0.12
18	21083688	C	T	18	23503724	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	2.22110048977332E-4	0.116
18	21083689	G	A	18	23503725	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.999992866188337	0.992
18	21083689	G	C	18	23503725	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.999984011325206	0.988
18	21083689	G	T	18	23503725	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.999988863007339	0.972
18	21083690	G	A	18	23503726	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.48430226237606E-5	0.008
18	21083690	G	C	18	23503726	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.24111680889084E-5	0.036
18	21083690	G	T	18	23503726	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.21189053966825E-5	0.006
18	21083691	C	A	18	23503727	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	8.59422124768555E-5	0.024
18	21083691	C	G	18	23503727	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.60515521612941E-5	0.002
18	21083691	C	T	18	23503727	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	6.36856308947275E-5	0.002
18	21083692	G	A	18	23503728	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	5.34859540938707E-4	0.044
18	21083692	G	C	18	23503728	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.07945584914448E-4	0.002
18	21083692	G	T	18	23503728	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.48622437112074E-4	0.01
18	21084323	T	A	18	23504359	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00640958416749124	0.264
18	21084323	T	C	18	23504359	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00123575552536193	0.056
18	21084323	T	G	18	23504359	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00238546226814567	0.188
18	21084324	T	A	18	23504360	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00218998635565567	0.186
18	21084324	T	C	18	23504360	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	6.80267197806708E-4	0.02
18	21084324	T	G	18	23504360	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	5.71629487414756E-4	0.118
18	21084325	T	A	18	23504361	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00602621064536264	0.122
18	21084325	T	C	18	23504361	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.25178158672013E-4	0.006
18	21084325	T	G	18	23504361	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00114177904116431	0.09
18	21084326	C	A	18	23504362	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	7.05067004363567E-5	0.014
18	21084326	C	G	18	23504362	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	6.8668233290699E-5	0.012
18	21084326	C	T	18	23504362	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.38939324133129E-5	0.0
18	21084327	C	A	18	23504363	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.44974337788323E-4	0.032
18	21084327	C	G	18	23504363	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	2.0534746563289E-4	0.042
18	21084327	C	T	18	23504363	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	7.08179749151087E-5	0.0
18	21084328	C	A	18	23504364	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00179943840673585	0.09
18	21084328	C	G	18	23504364	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00128980564569597	0.06
18	21084328	C	T	18	23504364	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.37537556842977E-4	0.022
18	21084329	T	A	18	23504365	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00562411710878364	0.178
18	21084329	T	C	18	23504365	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00150583707693403	0.064
18	21084329	T	G	18	23504365	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.0168367604482491	0.23
18	21084330	C	A	18	23504366	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00180646828845061	0.078
18	21084330	C	G	18	23504366	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00241994223358752	0.078
18	21084330	C	T	18	23504366	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.52301839950666E-4	0.016
18	21084331	T	A	18	23504367	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	4.42346200298232E-5	0.0
18	21084331	T	C	18	23504367	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.35763696730056E-5	0.002
18	21084331	T	G	18	23504367	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	4.55443169514824E-5	0.002
18	21084332	C	A	18	23504368	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.114887833887391	0.334
18	21084332	C	G	18	23504368	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.99806534813781	0.858
18	21084332	C	T	18	23504368	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.00292197276055905	0.064
18	21084333	A	C	18	23504369	y	y	splicing	C18orf8(NM_001276342:exon2:c.103-2A>C;NM_013326:exon2:c.103-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.103-2A>C;ENST00000589215:exon2:c.103-2A>C;ENST00000590868:exon2:c.103-2A>C;ENST00000587690:exon2:c.103-2A>C;ENST00000589860:exon2:c.103-2A>C;ENST00000590870:exon2:c.103-2A>C;ENST00000592119:exon2:c.103-2A>C)	.	.	0.999990155693597	0.926
18	21084333	A	G	18	23504369	y	y	splicing	C18orf8(NM_001276342:exon2:c.103-2A>G;NM_013326:exon2:c.103-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.103-2A>G;ENST00000589215:exon2:c.103-2A>G;ENST00000590868:exon2:c.103-2A>G;ENST00000587690:exon2:c.103-2A>G;ENST00000589860:exon2:c.103-2A>G;ENST00000590870:exon2:c.103-2A>G;ENST00000592119:exon2:c.103-2A>G)	.	.	0.999990155693597	0.926
18	21084333	A	T	18	23504369	y	y	splicing	C18orf8(NM_001276342:exon2:c.103-2A>T;NM_013326:exon2:c.103-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.103-2A>T;ENST00000589215:exon2:c.103-2A>T;ENST00000590868:exon2:c.103-2A>T;ENST00000587690:exon2:c.103-2A>T;ENST00000589860:exon2:c.103-2A>T;ENST00000590870:exon2:c.103-2A>T;ENST00000592119:exon2:c.103-2A>T)	.	.	0.999990155693597	0.926
18	21084334	G	A	18	23504370	y	y	splicing	C18orf8(NM_001276342:exon2:c.103-1G>A;NM_013326:exon2:c.103-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.103-1G>A;ENST00000589215:exon2:c.103-1G>A;ENST00000590868:exon2:c.103-1G>A;ENST00000587690:exon2:c.103-1G>A;ENST00000589860:exon2:c.103-1G>A;ENST00000590870:exon2:c.103-1G>A;ENST00000592119:exon2:c.103-1G>A)	.	.	0.999988568935494	0.932
18	21084334	G	C	18	23504370	y	y	splicing	C18orf8(NM_001276342:exon2:c.103-1G>C;NM_013326:exon2:c.103-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.103-1G>C;ENST00000589215:exon2:c.103-1G>C;ENST00000590868:exon2:c.103-1G>C;ENST00000587690:exon2:c.103-1G>C;ENST00000589860:exon2:c.103-1G>C;ENST00000590870:exon2:c.103-1G>C;ENST00000592119:exon2:c.103-1G>C)	.	.	0.999988568935494	0.932
18	21084334	G	T	18	23504370	y	y	splicing	C18orf8(NM_001276342:exon2:c.103-1G>T;NM_013326:exon2:c.103-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.103-1G>T;ENST00000589215:exon2:c.103-1G>T;ENST00000590868:exon2:c.103-1G>T;ENST00000587690:exon2:c.103-1G>T;ENST00000589860:exon2:c.103-1G>T;ENST00000590870:exon2:c.103-1G>T;ENST00000592119:exon2:c.103-1G>T)	.	.	0.999988568935494	0.932
18	21084335	G	A	18	23504371	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.G103A:p.V35I;C18orf8:NM_001276342:exon2:c.G103A:p.V35I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.G103A:p.V35I;ENSG00000141452:ENST00000589215:exon2:c.G103A:p.V35I;ENSG00000141452:ENST00000269221:exon2:c.G103A:p.V35I;ENSG00000141452:ENST00000589860:exon2:c.G103A:p.V35I;ENSG00000141452:ENST00000587690:exon2:c.G103A:p.V35I;ENSG00000141452:ENST00000590870:exon2:c.G103A:p.V35I;ENSG00000141452:ENST00000590868:exon2:c.G103A:p.V35I;	0.925376672391183	0.616
18	21084335	G	C	18	23504371	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.G103C:p.V35L;C18orf8:NM_001276342:exon2:c.G103C:p.V35L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.G103C:p.V35L;ENSG00000141452:ENST00000589215:exon2:c.G103C:p.V35L;ENSG00000141452:ENST00000269221:exon2:c.G103C:p.V35L;ENSG00000141452:ENST00000589860:exon2:c.G103C:p.V35L;ENSG00000141452:ENST00000587690:exon2:c.G103C:p.V35L;ENSG00000141452:ENST00000590870:exon2:c.G103C:p.V35L;ENSG00000141452:ENST00000590868:exon2:c.G103C:p.V35L;	0.993800795088559	0.886
18	21084335	G	T	18	23504371	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.G103T:p.V35F;C18orf8:NM_001276342:exon2:c.G103T:p.V35F;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.G103T:p.V35F;ENSG00000141452:ENST00000589215:exon2:c.G103T:p.V35F;ENSG00000141452:ENST00000269221:exon2:c.G103T:p.V35F;ENSG00000141452:ENST00000589860:exon2:c.G103T:p.V35F;ENSG00000141452:ENST00000587690:exon2:c.G103T:p.V35F;ENSG00000141452:ENST00000590870:exon2:c.G103T:p.V35F;ENSG00000141452:ENST00000590868:exon2:c.G103T:p.V35F;	0.993232278278699	0.912
18	21084336	T	A	18	23504372	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.T104A:p.V35D;C18orf8:NM_001276342:exon2:c.T104A:p.V35D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.T104A:p.V35D;ENSG00000141452:ENST00000589215:exon2:c.T104A:p.V35D;ENSG00000141452:ENST00000269221:exon2:c.T104A:p.V35D;ENSG00000141452:ENST00000589860:exon2:c.T104A:p.V35D;ENSG00000141452:ENST00000587690:exon2:c.T104A:p.V35D;ENSG00000141452:ENST00000590870:exon2:c.T104A:p.V35D;ENSG00000141452:ENST00000590868:exon2:c.T104A:p.V35D;	0.0658189159693667	0.422
18	21084336	T	C	18	23504372	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.T104C:p.V35A;C18orf8:NM_001276342:exon2:c.T104C:p.V35A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.T104C:p.V35A;ENSG00000141452:ENST00000589215:exon2:c.T104C:p.V35A;ENSG00000141452:ENST00000269221:exon2:c.T104C:p.V35A;ENSG00000141452:ENST00000589860:exon2:c.T104C:p.V35A;ENSG00000141452:ENST00000587690:exon2:c.T104C:p.V35A;ENSG00000141452:ENST00000590870:exon2:c.T104C:p.V35A;ENSG00000141452:ENST00000590868:exon2:c.T104C:p.V35A;	0.0794399184736586	0.436
18	21084336	T	G	18	23504372	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.T104G:p.V35G;C18orf8:NM_001276342:exon2:c.T104G:p.V35G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.T104G:p.V35G;ENSG00000141452:ENST00000589215:exon2:c.T104G:p.V35G;ENSG00000141452:ENST00000269221:exon2:c.T104G:p.V35G;ENSG00000141452:ENST00000589860:exon2:c.T104G:p.V35G;ENSG00000141452:ENST00000587690:exon2:c.T104G:p.V35G;ENSG00000141452:ENST00000590870:exon2:c.T104G:p.V35G;ENSG00000141452:ENST00000590868:exon2:c.T104G:p.V35G;	0.0658189159693667	0.432
18	21084409	T	A	18	23504445	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.T177A:p.F59L;C18orf8:NM_001276342:exon2:c.T177A:p.F59L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.T177A:p.F59L;ENSG00000141452:ENST00000589215:exon2:c.T177A:p.F59L;ENSG00000141452:ENST00000269221:exon2:c.T177A:p.F59L;ENSG00000141452:ENST00000589860:exon2:c.T177A:p.F59L;ENSG00000141452:ENST00000587690:exon2:c.T177A:p.F59L;ENSG00000141452:ENST00000590870:exon2:c.T177A:p.F59L;ENSG00000141452:ENST00000590868:exon2:c.T177A:p.F59L;	0.0182131776232169	0.348
18	21084409	T	C	18	23504445	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon2:c.T177C:p.F59F;C18orf8:NM_001276342:exon2:c.T177C:p.F59F;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.T177C:p.F59F;ENSG00000141452:ENST00000589215:exon2:c.T177C:p.F59F;ENSG00000141452:ENST00000269221:exon2:c.T177C:p.F59F;ENSG00000141452:ENST00000589860:exon2:c.T177C:p.F59F;ENSG00000141452:ENST00000587690:exon2:c.T177C:p.F59F;ENSG00000141452:ENST00000590870:exon2:c.T177C:p.F59F;ENSG00000141452:ENST00000590868:exon2:c.T177C:p.F59F;	1.70475463524753E-4	0.004
18	21084409	T	G	18	23504445	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.T177G:p.F59L;C18orf8:NM_001276342:exon2:c.T177G:p.F59L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.T177G:p.F59L;ENSG00000141452:ENST00000589215:exon2:c.T177G:p.F59L;ENSG00000141452:ENST00000269221:exon2:c.T177G:p.F59L;ENSG00000141452:ENST00000589860:exon2:c.T177G:p.F59L;ENSG00000141452:ENST00000587690:exon2:c.T177G:p.F59L;ENSG00000141452:ENST00000590870:exon2:c.T177G:p.F59L;ENSG00000141452:ENST00000590868:exon2:c.T177G:p.F59L;	0.0247434527866455	0.322
18	21084410	A	C	18	23504446	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon2:c.A178C:p.R60R;C18orf8:NM_001276342:exon2:c.A178C:p.R60R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.A178C:p.R60R;ENSG00000141452:ENST00000589215:exon2:c.A178C:p.R60R;ENSG00000141452:ENST00000269221:exon2:c.A178C:p.R60R;ENSG00000141452:ENST00000589860:exon2:c.A178C:p.R60R;ENSG00000141452:ENST00000587690:exon2:c.A178C:p.R60R;ENSG00000141452:ENST00000590870:exon2:c.A178C:p.R60R;ENSG00000141452:ENST00000590868:exon2:c.A178C:p.R60R;	0.979693087658138	0.788
18	21084410	A	G	18	23504446	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.A178G:p.R60G;C18orf8:NM_001276342:exon2:c.A178G:p.R60G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.A178G:p.R60G;ENSG00000141452:ENST00000589215:exon2:c.A178G:p.R60G;ENSG00000141452:ENST00000269221:exon2:c.A178G:p.R60G;ENSG00000141452:ENST00000589860:exon2:c.A178G:p.R60G;ENSG00000141452:ENST00000587690:exon2:c.A178G:p.R60G;ENSG00000141452:ENST00000590870:exon2:c.A178G:p.R60G;ENSG00000141452:ENST00000590868:exon2:c.A178G:p.R60G;	0.923623524421771	0.726
18	21084410	A	T	18	23504446	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon2:c.A178T:p.R60X;C18orf8:NM_001276342:exon2:c.A178T:p.R60X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000592119:exon2:c.A178T:p.R60X;ENSG00000141452:ENST00000269221:exon2:c.A178T:p.R60X;ENSG00000141452:ENST00000589860:exon2:c.A178T:p.R60X;ENSG00000141452:ENST00000587690:exon2:c.A178T:p.R60X;ENSG00000141452:ENST00000590870:exon2:c.A178T:p.R60X;ENSG00000141452:ENST00000590868:exon2:c.A178T:p.R60X;	0.999542449031851	0.906
18	21084411	G	A	18	23504447	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.G179A:p.R60K;C18orf8:NM_001276342:exon2:c.G179A:p.R60K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.G179A:p.R60K;ENSG00000141452:ENST00000589215:exon2:c.G179A:p.R60K;ENSG00000141452:ENST00000269221:exon2:c.G179A:p.R60K;ENSG00000141452:ENST00000589860:exon2:c.G179A:p.R60K;ENSG00000141452:ENST00000587690:exon2:c.G179A:p.R60K;ENSG00000141452:ENST00000590870:exon2:c.G179A:p.R60K;ENSG00000141452:ENST00000590868:exon2:c.G179A:p.R60K;	0.999994235040015	1.0
18	21084411	G	C	18	23504447	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.G179C:p.R60T;C18orf8:NM_001276342:exon2:c.G179C:p.R60T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.G179C:p.R60T;ENSG00000141452:ENST00000589215:exon2:c.G179C:p.R60T;ENSG00000141452:ENST00000269221:exon2:c.G179C:p.R60T;ENSG00000141452:ENST00000589860:exon2:c.G179C:p.R60T;ENSG00000141452:ENST00000587690:exon2:c.G179C:p.R60T;ENSG00000141452:ENST00000590870:exon2:c.G179C:p.R60T;ENSG00000141452:ENST00000590868:exon2:c.G179C:p.R60T;	0.999997101429227	1.0
18	21084411	G	T	18	23504447	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon2:c.G179T:p.R60I;C18orf8:NM_001276342:exon2:c.G179T:p.R60I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon2:c.G179T:p.R60I;ENSG00000141452:ENST00000589215:exon2:c.G179T:p.R60M;ENSG00000141452:ENST00000269221:exon2:c.G179T:p.R60I;ENSG00000141452:ENST00000589860:exon2:c.G179T:p.R60I;ENSG00000141452:ENST00000587690:exon2:c.G179T:p.R60I;ENSG00000141452:ENST00000590870:exon2:c.G179T:p.R60I;ENSG00000141452:ENST00000590868:exon2:c.G179T:p.R60I;	0.999988836628117	1.0
18	21084412	G	A	18	23504448	y	y	splicing	C18orf8(NM_001276342:exon2:c.179+1G>A;NM_013326:exon2:c.179+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.179+1G>A;ENST00000589215:exon2:c.179+1G>A;ENST00000590868:exon2:c.179+1G>A;ENST00000587690:exon2:c.179+1G>A;ENST00000589860:exon2:c.179+1G>A;ENST00000590870:exon2:c.179+1G>A;ENST00000592119:exon2:c.179+1G>A)	.	.	0.999985666489905	0.948
18	21084412	G	C	18	23504448	y	y	splicing	C18orf8(NM_001276342:exon2:c.179+1G>C;NM_013326:exon2:c.179+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.179+1G>C;ENST00000589215:exon2:c.179+1G>C;ENST00000590868:exon2:c.179+1G>C;ENST00000587690:exon2:c.179+1G>C;ENST00000589860:exon2:c.179+1G>C;ENST00000590870:exon2:c.179+1G>C;ENST00000592119:exon2:c.179+1G>C)	.	.	0.999985666489905	0.948
18	21084412	G	T	18	23504448	y	y	splicing	C18orf8(NM_001276342:exon2:c.179+1G>T;NM_013326:exon2:c.179+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.179+1G>T;ENST00000589215:exon2:c.179+1G>T;ENST00000590868:exon2:c.179+1G>T;ENST00000587690:exon2:c.179+1G>T;ENST00000589860:exon2:c.179+1G>T;ENST00000590870:exon2:c.179+1G>T;ENST00000592119:exon2:c.179+1G>T)	.	.	0.999985666489905	0.948
18	21084413	T	A	18	23504449	y	y	splicing	C18orf8(NM_001276342:exon2:c.179+2T>A;NM_013326:exon2:c.179+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.179+2T>A;ENST00000589215:exon2:c.179+2T>A;ENST00000590868:exon2:c.179+2T>A;ENST00000587690:exon2:c.179+2T>A;ENST00000589860:exon2:c.179+2T>A;ENST00000590870:exon2:c.179+2T>A;ENST00000592119:exon2:c.179+2T>A)	.	.	0.999994304721892	0.94
18	21084413	T	C	18	23504449	y	y	splicing	C18orf8(NM_001276342:exon2:c.179+2T>C;NM_013326:exon2:c.179+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.179+2T>C;ENST00000589215:exon2:c.179+2T>C;ENST00000590868:exon2:c.179+2T>C;ENST00000587690:exon2:c.179+2T>C;ENST00000589860:exon2:c.179+2T>C;ENST00000590870:exon2:c.179+2T>C;ENST00000592119:exon2:c.179+2T>C)	.	.	0.997822217283399	0.744
18	21084413	T	G	18	23504449	y	y	splicing	C18orf8(NM_001276342:exon2:c.179+2T>G;NM_013326:exon2:c.179+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon2:c.179+2T>G;ENST00000589215:exon2:c.179+2T>G;ENST00000590868:exon2:c.179+2T>G;ENST00000587690:exon2:c.179+2T>G;ENST00000589860:exon2:c.179+2T>G;ENST00000590870:exon2:c.179+2T>G;ENST00000592119:exon2:c.179+2T>G)	.	.	0.999994304721892	0.94
18	21084414	A	C	18	23504450	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.99993571813626	0.988
18	21084414	A	G	18	23504450	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.99796494896759	0.904
18	21084414	A	T	18	23504450	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.999952406171502	0.99
18	21084415	A	C	18	23504451	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.501516317763917	0.466
18	21084415	A	G	18	23504451	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.973181849083143	0.816
18	21084415	A	T	18	23504451	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	0.585705743001296	0.588
18	21084416	T	A	18	23504452	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	2.83938752957722E-5	0.018
18	21084416	T	C	18	23504452	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.01767432832592E-4	0.0
18	21084416	T	G	18	23504452	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	3.46379040815215E-4	0.006
18	21084417	G	A	18	23504453	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.75019767498882E-5	0.004
18	21084417	G	C	18	23504453	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.88388696257314E-4	0.098
18	21084417	G	T	18	23504453	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	1.9155086702121E-5	0.0
18	21084418	G	A	18	23504454	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	7.1727629288968E-6	0.002
18	21084418	G	C	18	23504454	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	7.1727629288968E-6	0.002
18	21084418	G	T	18	23504454	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	7.69761093240203E-5	0.036
18	21084419	T	A	18	23504455	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	2.78389654127837E-5	0.002
18	21084419	T	C	18	23504455	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	5.1120084066014E-4	0.0
18	21084419	T	G	18	23504455	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452	.	.	2.78389654127837E-5	0.0
18	21086605	T	A	18	23506641	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	9.60948310872745E-5	0.002
18	21086605	T	C	18	23506641	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.05923468377003E-4	0.002
18	21086605	T	G	18	23506641	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.05923468377003E-4	0.004
18	21086606	G	A	18	23506642	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	7.75002676380762E-5	0.012
18	21086606	G	C	18	23506642	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.13324429737708E-4	0.072
18	21086606	G	T	18	23506642	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	7.75002676380762E-5	0.002
18	21086607	C	A	18	23506643	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000591107:exon5:c.432-1G>T)	.	.	4.77185116990374E-4	0.056
18	21086607	C	G	18	23506643	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000591107:exon5:c.432-1G>C)	.	.	4.77185116990374E-4	0.038
18	21086607	C	T	18	23506643	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000591107:exon5:c.432-1G>A)	.	.	4.32922031494327E-4	0.036
18	21086608	T	A	18	23506644	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000591107:exon5:c.432-2A>T)	.	.	0.0217584668092371	0.254
18	21086608	T	C	18	23506644	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000591107:exon5:c.432-2A>G)	.	.	0.0080492642235453	0.074
18	21086608	T	G	18	23506644	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000591107:exon5:c.432-2A>C)	.	.	0.0080492642235453	0.078
18	21086609	G	A	18	23506645	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.56717256822073E-4	0.01
18	21086609	G	C	18	23506645	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.82969803473514E-4	0.012
18	21086609	G	T	18	23506645	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.82969803473514E-4	0.01
18	21086610	T	A	18	23506646	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.45495379120052E-4	0.002
18	21086610	T	C	18	23506646	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.5982790009972E-4	0.004
18	21086610	T	G	18	23506646	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.5982790009972E-4	0.004
18	21086611	G	A	18	23506647	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.91594572005293E-5	0.008
18	21086611	G	C	18	23506647	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.51483018694853E-5	0.0
18	21086611	G	T	18	23506647	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.49705830046656E-5	0.002
18	21086612	A	C	18	23506648	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.46226529156369E-4	0.002
18	21086612	A	G	18	23506648	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.46226529156369E-4	0.002
18	21086612	A	T	18	23506648	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.46226529156369E-4	0.004
18	21086613	G	A	18	23506649	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.78128279513224E-5	0.004
18	21086613	G	C	18	23506649	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.91594572005293E-5	0.006
18	21086613	G	T	18	23506649	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.91594572005293E-5	0.046
18	21086614	A	C	18	23506650	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.25367971132387E-5	0.012
18	21086614	A	G	18	23506650	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.25367971132387E-5	0.036
18	21086614	A	T	18	23506650	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.25367971132387E-5	0.012
18	21086615	G	A	18	23506651	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.75002676380762E-5	0.004
18	21086615	G	C	18	23506651	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.13324429737708E-4	0.006
18	21086615	G	T	18	23506651	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.13324429737708E-4	0.006
18	21086616	A	C	18	23506652	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.46844991217429E-5	0.0
18	21086616	A	G	18	23506652	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.46844991217429E-5	0.0
18	21086616	A	T	18	23506652	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.46844991217429E-5	0.0
18	21086617	G	A	18	23506653	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.20279124519223E-5	0.0
18	21086617	G	C	18	23506653	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.29444940048665E-5	0.024
18	21086617	G	T	18	23506653	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.20279124519223E-5	0.002
18	21086618	A	C	18	23506654	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.64905445396362E-5	0.0
18	21086618	A	G	18	23506654	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.64905445396362E-5	0.0
18	21086618	A	T	18	23506654	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.54583771157E-5	0.0
18	21086922	T	A	18	23506958	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00178132111027662	0.144
18	21086922	T	C	18	23506958	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.6210192929303E-5	0.014
18	21086922	T	G	18	23506958	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.03560029651771E-4	0.146
18	21086923	T	A	18	23506959	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.842779609587545	0.602
18	21086923	T	C	18	23506959	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0551891072008249	0.258
18	21086923	T	G	18	23506959	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.524156476923351	0.546
18	21086924	C	A	18	23506960	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0145832692535434	0.332
18	21086924	C	G	18	23506960	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00311387517723049	0.118
18	21086924	C	T	18	23506960	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.65230974714438E-4	0.042
18	21086925	T	A	18	23506961	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.367691021504462	0.202
18	21086925	T	C	18	23506961	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0090025725893505	0.042
18	21086925	T	G	18	23506961	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0684638263439357	0.192
18	21086926	T	A	18	23506962	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00490276501215171	0.112
18	21086926	T	C	18	23506962	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.28420207043203E-4	0.02
18	21086926	T	G	18	23506962	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00979824087694886	0.166
18	21086927	C	A	18	23506963	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00678625122993572	0.132
18	21086927	C	G	18	23506963	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00261792525690356	0.132
18	21086927	C	T	18	23506963	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.27210112922733E-4	0.002
18	21086928	T	A	18	23506964	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.281572851652474	0.304
18	21086928	T	C	18	23506964	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.91763932729947E-4	0.022
18	21086928	T	G	18	23506964	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.087610639109339	0.306
18	21086929	T	A	18	23506965	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0745037392105256	0.436
18	21086929	T	C	18	23506965	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0128900363159177	0.07
18	21086929	T	G	18	23506965	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.676643613949996	0.584
18	21086930	A	C	18	23506966	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.12583892856344E-4	0.036
18	21086930	A	G	18	23506966	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.97039604872852E-4	0.11
18	21086930	A	T	18	23506966	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.40337868424283E-4	0.012
18	21086931	A	C	18	23506967	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.5509295991065E-4	0.042
18	21086931	A	G	18	23506967	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.723229277657845	0.45
18	21086931	A	T	18	23506967	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.52164674467965E-4	0.028
18	21086932	A	C	18	23506968	y	y	splicing	C18orf8(NM_001276342:exon3:c.180-2A>C;NM_013326:exon3:c.180-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.180-2A>C;ENST00000590868:exon3:c.180-2A>C;ENST00000587690:exon3:c.180-2A>C;ENST00000590870:exon3:c.180-2A>C;ENST00000592119:exon3:c.180-2A>C)	.	.	0.999988247793601	0.932
18	21086932	A	G	18	23506968	y	y	splicing	C18orf8(NM_001276342:exon3:c.180-2A>G;NM_013326:exon3:c.180-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.180-2A>G;ENST00000590868:exon3:c.180-2A>G;ENST00000587690:exon3:c.180-2A>G;ENST00000590870:exon3:c.180-2A>G;ENST00000592119:exon3:c.180-2A>G)	.	.	0.999988247793601	0.932
18	21086932	A	T	18	23506968	y	y	splicing	C18orf8(NM_001276342:exon3:c.180-2A>T;NM_013326:exon3:c.180-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.180-2A>T;ENST00000590868:exon3:c.180-2A>T;ENST00000587690:exon3:c.180-2A>T;ENST00000590870:exon3:c.180-2A>T;ENST00000592119:exon3:c.180-2A>T)	.	.	0.999988247793601	0.932
18	21086933	G	A	18	23506969	y	y	splicing	C18orf8(NM_001276342:exon3:c.180-1G>A;NM_013326:exon3:c.180-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.180-1G>A;ENST00000590868:exon3:c.180-1G>A;ENST00000587690:exon3:c.180-1G>A;ENST00000590870:exon3:c.180-1G>A;ENST00000592119:exon3:c.180-1G>A)	.	.	0.999990361384395	0.938
18	21086933	G	C	18	23506969	y	y	splicing	C18orf8(NM_001276342:exon3:c.180-1G>C;NM_013326:exon3:c.180-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.180-1G>C;ENST00000590868:exon3:c.180-1G>C;ENST00000587690:exon3:c.180-1G>C;ENST00000590870:exon3:c.180-1G>C;ENST00000592119:exon3:c.180-1G>C)	.	.	0.999990361384395	0.938
18	21086933	G	T	18	23506969	y	y	splicing	C18orf8(NM_001276342:exon3:c.180-1G>T;NM_013326:exon3:c.180-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.180-1G>T;ENST00000590868:exon3:c.180-1G>T;ENST00000587690:exon3:c.180-1G>T;ENST00000590870:exon3:c.180-1G>T;ENST00000592119:exon3:c.180-1G>T)	.	.	0.999990361384395	0.938
18	21086934	A	C	18	23506970	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.A180C:p.R60S;C18orf8:NM_001276342:exon3:c.A180C:p.R60S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.A180C:p.R60S;ENSG00000141452:ENST00000269221:exon3:c.A180C:p.R60S;ENSG00000141452:ENST00000587690:exon3:c.A180C:p.R60S;ENSG00000141452:ENST00000590870:exon3:c.A180C:p.R60S;ENSG00000141452:ENST00000590868:exon3:c.A180C:p.R60S;	0.00240694102020707	0.164
18	21086934	A	G	18	23506970	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon3:c.A180G:p.R60R;C18orf8:NM_001276342:exon3:c.A180G:p.R60R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.A180G:p.R60R;ENSG00000141452:ENST00000269221:exon3:c.A180G:p.R60R;ENSG00000141452:ENST00000587690:exon3:c.A180G:p.R60R;ENSG00000141452:ENST00000590870:exon3:c.A180G:p.R60R;ENSG00000141452:ENST00000590868:exon3:c.A180G:p.R60R;	2.40220248136312E-4	0.006
18	21086934	A	T	18	23506970	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.A180T:p.R60S;C18orf8:NM_001276342:exon3:c.A180T:p.R60S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.A180T:p.R60S;ENSG00000141452:ENST00000269221:exon3:c.A180T:p.R60S;ENSG00000141452:ENST00000587690:exon3:c.A180T:p.R60S;ENSG00000141452:ENST00000590870:exon3:c.A180T:p.R60S;ENSG00000141452:ENST00000590868:exon3:c.A180T:p.R60S;	0.00718491683278618	0.158
18	21086935	A	C	18	23506971	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.A181C:p.M61L;C18orf8:NM_001276342:exon3:c.A181C:p.M61L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.A181C:p.M61L;ENSG00000141452:ENST00000269221:exon3:c.A181C:p.M61L;ENSG00000141452:ENST00000587690:exon3:c.A181C:p.M61L;ENSG00000141452:ENST00000590870:exon3:c.A181C:p.M61L;ENSG00000141452:ENST00000590868:exon3:c.A181C:p.M61L;	0.899785736276203	0.794
18	21086935	A	G	18	23506971	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.A181G:p.M61V;C18orf8:NM_001276342:exon3:c.A181G:p.M61V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.A181G:p.M61V;ENSG00000141452:ENST00000269221:exon3:c.A181G:p.M61V;ENSG00000141452:ENST00000587690:exon3:c.A181G:p.M61V;ENSG00000141452:ENST00000590870:exon3:c.A181G:p.M61V;ENSG00000141452:ENST00000590868:exon3:c.A181G:p.M61V;	0.862830659217902	0.53
18	21086935	A	T	18	23506971	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.A181T:p.M61L;C18orf8:NM_001276342:exon3:c.A181T:p.M61L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.A181T:p.M61L;ENSG00000141452:ENST00000269221:exon3:c.A181T:p.M61L;ENSG00000141452:ENST00000587690:exon3:c.A181T:p.M61L;ENSG00000141452:ENST00000590870:exon3:c.A181T:p.M61L;ENSG00000141452:ENST00000590868:exon3:c.A181T:p.M61L;	0.891152251343462	0.734
18	21087016	G	A	18	23507052	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.G262A:p.V88M;C18orf8:NM_001276342:exon3:c.G262A:p.V88M;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.G262A:p.V88M;ENSG00000141452:ENST00000269221:exon3:c.G262A:p.V88M;ENSG00000141452:ENST00000587690:exon3:c.G262A:p.V88M;ENSG00000141452:ENST00000590870:exon3:c.G262A:p.V88M;ENSG00000141452:ENST00000590868:exon3:c.G262A:p.V88M;	0.957909675724262	0.792
18	21087016	G	C	18	23507052	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.G262C:p.V88L;C18orf8:NM_001276342:exon3:c.G262C:p.V88L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.G262C:p.V88L;ENSG00000141452:ENST00000269221:exon3:c.G262C:p.V88L;ENSG00000141452:ENST00000587690:exon3:c.G262C:p.V88L;ENSG00000141452:ENST00000590870:exon3:c.G262C:p.V88L;ENSG00000141452:ENST00000590868:exon3:c.G262C:p.V88L;	0.965887832463187	0.776
18	21087016	G	T	18	23507052	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.G262T:p.V88L;C18orf8:NM_001276342:exon3:c.G262T:p.V88L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.G262T:p.V88L;ENSG00000141452:ENST00000269221:exon3:c.G262T:p.V88L;ENSG00000141452:ENST00000587690:exon3:c.G262T:p.V88L;ENSG00000141452:ENST00000590870:exon3:c.G262T:p.V88L;ENSG00000141452:ENST00000590868:exon3:c.G262T:p.V88L;	0.986102461222758	0.854
18	21087017	T	A	18	23507053	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.T263A:p.V88E;C18orf8:NM_001276342:exon3:c.T263A:p.V88E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.T263A:p.V88E;ENSG00000141452:ENST00000269221:exon3:c.T263A:p.V88E;ENSG00000141452:ENST00000587690:exon3:c.T263A:p.V88E;ENSG00000141452:ENST00000590870:exon3:c.T263A:p.V88E;ENSG00000141452:ENST00000590868:exon3:c.T263A:p.V88E;	0.755635247998347	0.662
18	21087017	T	C	18	23507053	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.T263C:p.V88A;C18orf8:NM_001276342:exon3:c.T263C:p.V88A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.T263C:p.V88A;ENSG00000141452:ENST00000269221:exon3:c.T263C:p.V88A;ENSG00000141452:ENST00000587690:exon3:c.T263C:p.V88A;ENSG00000141452:ENST00000590870:exon3:c.T263C:p.V88A;ENSG00000141452:ENST00000590868:exon3:c.T263C:p.V88A;	0.956060833868244	0.91
18	21087017	T	G	18	23507053	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon3:c.T263G:p.V88G;C18orf8:NM_001276342:exon3:c.T263G:p.V88G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.T263G:p.V88G;ENSG00000141452:ENST00000269221:exon3:c.T263G:p.V88G;ENSG00000141452:ENST00000587690:exon3:c.T263G:p.V88G;ENSG00000141452:ENST00000590870:exon3:c.T263G:p.V88G;ENSG00000141452:ENST00000590868:exon3:c.T263G:p.V88G;	0.711233064962952	0.752
18	21087018	G	A	18	23507054	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon3:c.G264A:p.V88V;C18orf8:NM_001276342:exon3:c.G264A:p.V88V;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.G264A:p.V88V;ENSG00000141452:ENST00000269221:exon3:c.G264A:p.V88V;ENSG00000141452:ENST00000587690:exon3:c.G264A:p.V88V;ENSG00000141452:ENST00000590870:exon3:c.G264A:p.V88V;ENSG00000141452:ENST00000590868:exon3:c.G264A:p.V88V;	0.999987983415788	0.998
18	21087018	G	C	18	23507054	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon3:c.G264C:p.V88V;C18orf8:NM_001276342:exon3:c.G264C:p.V88V;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.G264C:p.V88V;ENSG00000141452:ENST00000269221:exon3:c.G264C:p.V88V;ENSG00000141452:ENST00000587690:exon3:c.G264C:p.V88V;ENSG00000141452:ENST00000590870:exon3:c.G264C:p.V88V;ENSG00000141452:ENST00000590868:exon3:c.G264C:p.V88V;	0.999997020607425	0.994
18	21087018	G	T	18	23507054	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon3:c.G264T:p.V88V;C18orf8:NM_001276342:exon3:c.G264T:p.V88V;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000592119:exon3:c.G264T:p.V88V;ENSG00000141452:ENST00000269221:exon3:c.G264T:p.V88V;ENSG00000141452:ENST00000587690:exon3:c.G264T:p.V88V;ENSG00000141452:ENST00000590870:exon3:c.G264T:p.V88V;ENSG00000141452:ENST00000590868:exon3:c.G264T:p.V88V;	0.999985296464996	0.998
18	21087019	G	A	18	23507055	y	y	splicing	C18orf8(NM_001276342:exon3:c.264+1G>A;NM_013326:exon3:c.264+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.264+1G>A;ENST00000590868:exon3:c.264+1G>A;ENST00000587690:exon3:c.264+1G>A;ENST00000590870:exon3:c.264+1G>A;ENST00000592119:exon3:c.264+1G>A)	.	.	0.999990361384395	0.938
18	21087019	G	C	18	23507055	y	y	splicing	C18orf8(NM_001276342:exon3:c.264+1G>C;NM_013326:exon3:c.264+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.264+1G>C;ENST00000590868:exon3:c.264+1G>C;ENST00000587690:exon3:c.264+1G>C;ENST00000590870:exon3:c.264+1G>C;ENST00000592119:exon3:c.264+1G>C)	.	.	0.999990361384395	0.938
18	21087019	G	T	18	23507055	y	y	splicing	C18orf8(NM_001276342:exon3:c.264+1G>T;NM_013326:exon3:c.264+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.264+1G>T;ENST00000590868:exon3:c.264+1G>T;ENST00000587690:exon3:c.264+1G>T;ENST00000590870:exon3:c.264+1G>T;ENST00000592119:exon3:c.264+1G>T)	.	.	0.999990361384395	0.938
18	21087020	T	A	18	23507056	y	y	splicing	C18orf8(NM_001276342:exon3:c.264+2T>A;NM_013326:exon3:c.264+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.264+2T>A;ENST00000590868:exon3:c.264+2T>A;ENST00000587690:exon3:c.264+2T>A;ENST00000590870:exon3:c.264+2T>A;ENST00000592119:exon3:c.264+2T>A)	.	.	0.999988247793601	0.93
18	21087020	T	C	18	23507056	y	y	splicing	C18orf8(NM_001276342:exon3:c.264+2T>C;NM_013326:exon3:c.264+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.264+2T>C;ENST00000590868:exon3:c.264+2T>C;ENST00000587690:exon3:c.264+2T>C;ENST00000590870:exon3:c.264+2T>C;ENST00000592119:exon3:c.264+2T>C)	.	.	0.99991522016916	0.9
18	21087020	T	G	18	23507056	y	y	splicing	C18orf8(NM_001276342:exon3:c.264+2T>G;NM_013326:exon3:c.264+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon3:c.264+2T>G;ENST00000590868:exon3:c.264+2T>G;ENST00000587690:exon3:c.264+2T>G;ENST00000590870:exon3:c.264+2T>G;ENST00000592119:exon3:c.264+2T>G)	.	.	0.999988247793601	0.93
18	21087021	A	C	18	23507057	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99989101213796	0.93
18	21087021	A	G	18	23507057	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.94580935403319	0.652
18	21087021	A	T	18	23507057	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999789335700612	0.942
18	21087022	A	C	18	23507058	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.997801539565622	0.948
18	21087022	A	G	18	23507058	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999076615398424	0.974
18	21087022	A	T	18	23507058	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999410670899656	0.95
18	21087023	G	A	18	23507059	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99973495145135	0.944
18	21087023	G	C	18	23507059	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999329377422305	0.986
18	21087023	G	T	18	23507059	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999245035533178	0.92
18	21087024	A	C	18	23507060	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.50488829239453E-4	0.012
18	21087024	A	G	18	23507060	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.30230191848777E-4	0.0
18	21087024	A	T	18	23507060	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.05843059506049E-4	0.004
18	21087025	C	A	18	23507061	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.55685820599265E-4	0.01
18	21087025	C	G	18	23507061	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.0611870349042E-4	0.004
18	21087025	C	T	18	23507061	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.14639360028061E-4	0.002
18	21087026	T	A	18	23507062	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.74816379935194E-4	0.012
18	21087026	T	C	18	23507062	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.19307087957987E-4	0.004
18	21087026	T	G	18	23507062	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.19307087957987E-4	0.002
18	21087937	T	A	18	23507973	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00141917414961854	0.086
18	21087937	T	C	18	23507973	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.67829137716381E-4	0.01
18	21087937	T	G	18	23507973	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.99051623167365E-4	0.084
18	21087938	T	A	18	23507974	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.05539841093147E-4	0.092
18	21087938	T	C	18	23507974	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.01837369982233E-4	0.014
18	21087938	T	G	18	23507974	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00100525383441008	0.102
18	21087939	T	A	18	23507975	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00120399831961314	0.05
18	21087939	T	C	18	23507975	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.57465125991241E-5	0.002
18	21087939	T	G	18	23507975	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.72987337924489E-4	0.06
18	21087940	T	A	18	23507976	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.57606661099739E-4	0.048
18	21087940	T	C	18	23507976	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.2488300327709E-5	0.016
18	21087940	T	G	18	23507976	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.05202852458578E-4	0.084
18	21087941	C	A	18	23507977	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.89155907813672E-4	0.008
18	21087941	C	G	18	23507977	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.31180191460109E-4	0.028
18	21087941	C	T	18	23507977	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.19761612855971E-5	0.03
18	21087942	C	A	18	23507978	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.61835511540344E-4	0.036
18	21087942	C	G	18	23507978	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.5942748994419E-4	0.032
18	21087942	C	T	18	23507978	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.33396639738949E-5	0.0
18	21087943	T	A	18	23507979	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00308320593986864	0.082
18	21087943	T	C	18	23507979	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.94729230945945E-5	0.002
18	21087943	T	G	18	23507979	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0041566273310527	0.19
18	21087944	T	A	18	23507980	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.174088883838899	0.44
18	21087944	T	C	18	23507980	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0170529051480489	0.304
18	21087944	T	G	18	23507980	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.149695391312902	0.41
18	21087945	T	A	18	23507981	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.33941735381205E-4	0.006
18	21087945	T	C	18	23507981	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.09247029631957E-4	0.012
18	21087945	T	G	18	23507981	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.66160256978253E-4	0.004
18	21087946	C	A	18	23507982	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.994820774465806	0.75
18	21087946	C	G	18	23507982	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99990697857764	0.926
18	21087946	C	T	18	23507982	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.630558583452278	0.272
18	21087947	A	C	18	23507983	y	y	splicing	C18orf8(NM_013326:exon4:c.265-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.265-2A>C;ENST00000589215:exon3:c.180-2A>C;ENST00000587690:exon4:c.265-2A>C;ENST00000590870:exon4:c.265-2A>C;ENST00000592119:exon4:c.265-2A>C)	.	.	0.999988247793601	0.928
18	21087947	A	G	18	23507983	y	y	splicing	C18orf8(NM_013326:exon4:c.265-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.265-2A>G;ENST00000589215:exon3:c.180-2A>G;ENST00000587690:exon4:c.265-2A>G;ENST00000590870:exon4:c.265-2A>G;ENST00000592119:exon4:c.265-2A>G)	.	.	0.999988247793601	0.928
18	21087947	A	T	18	23507983	y	y	splicing	C18orf8(NM_013326:exon4:c.265-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.265-2A>T;ENST00000589215:exon3:c.180-2A>T;ENST00000587690:exon4:c.265-2A>T;ENST00000590870:exon4:c.265-2A>T;ENST00000592119:exon4:c.265-2A>T)	.	.	0.999988247793601	0.928
18	21087948	G	A	18	23507984	y	y	splicing	C18orf8(NM_013326:exon4:c.265-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.265-1G>A;ENST00000589215:exon3:c.180-1G>A;ENST00000587690:exon4:c.265-1G>A;ENST00000590870:exon4:c.265-1G>A;ENST00000592119:exon4:c.265-1G>A)	.	.	0.999986675681007	0.932
18	21087948	G	C	18	23507984	y	y	splicing	C18orf8(NM_013326:exon4:c.265-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.265-1G>C;ENST00000589215:exon3:c.180-1G>C;ENST00000587690:exon4:c.265-1G>C;ENST00000590870:exon4:c.265-1G>C;ENST00000592119:exon4:c.265-1G>C)	.	.	0.999986675681007	0.932
18	21087948	G	T	18	23507984	y	y	splicing	C18orf8(NM_013326:exon4:c.265-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.265-1G>T;ENST00000589215:exon3:c.180-1G>T;ENST00000587690:exon4:c.265-1G>T;ENST00000590870:exon4:c.265-1G>T;ENST00000592119:exon4:c.265-1G>T)	.	.	0.999986675681007	0.932
18	21087949	G	A	18	23507985	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.G265A:p.D89N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.G265A:p.D89N;ENSG00000141452:ENST00000269221:exon4:c.G265A:p.D89N;ENSG00000141452:ENST00000587690:exon4:c.G265A:p.D89N;ENSG00000141452:ENST00000590870:exon4:c.G265A:p.D89N;	0.997257415135132	0.84
18	21087949	G	C	18	23507985	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.G265C:p.D89H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.G265C:p.D89H;ENSG00000141452:ENST00000589215:exon3:c.G180C:p.R60S;ENSG00000141452:ENST00000269221:exon4:c.G265C:p.D89H;ENSG00000141452:ENST00000587690:exon4:c.G265C:p.D89H;ENSG00000141452:ENST00000590870:exon4:c.G265C:p.D89H;	0.999332739830295	0.92
18	21087949	G	T	18	23507985	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.G265T:p.D89Y;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.G265T:p.D89Y;ENSG00000141452:ENST00000589215:exon3:c.G180T:p.R60S;ENSG00000141452:ENST00000269221:exon4:c.G265T:p.D89Y;ENSG00000141452:ENST00000587690:exon4:c.G265T:p.D89Y;ENSG00000141452:ENST00000590870:exon4:c.G265T:p.D89Y;	0.999494815465934	0.94
18	21087950	A	C	18	23507986	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.A266C:p.D89A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.A266C:p.D89A;ENSG00000141452:ENST00000589215:exon3:c.A181C:p.I61L;ENSG00000141452:ENST00000269221:exon4:c.A266C:p.D89A;ENSG00000141452:ENST00000587690:exon4:c.A266C:p.D89A;ENSG00000141452:ENST00000590870:exon4:c.A266C:p.D89A;	0.825147301408341	0.704
18	21087950	A	G	18	23507986	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.A266G:p.D89G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.A266G:p.D89G;ENSG00000141452:ENST00000589215:exon3:c.A181G:p.I61V;ENSG00000141452:ENST00000269221:exon4:c.A266G:p.D89G;ENSG00000141452:ENST00000587690:exon4:c.A266G:p.D89G;ENSG00000141452:ENST00000590870:exon4:c.A266G:p.D89G;	0.766512612851714	0.41
18	21087950	A	T	18	23507986	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.A266T:p.D89V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.A266T:p.D89V;ENSG00000141452:ENST00000589215:exon3:c.A181T:p.I61F;ENSG00000141452:ENST00000269221:exon4:c.A266T:p.D89V;ENSG00000141452:ENST00000587690:exon4:c.A266T:p.D89V;ENSG00000141452:ENST00000590870:exon4:c.A266T:p.D89V;	0.704840179760783	0.69
18	21088003	A	C	18	23508039	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.A319C:p.K107Q;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.A319C:p.K107Q;ENSG00000141452:ENST00000269221:exon4:c.A319C:p.K107Q;ENSG00000141452:ENST00000587690:exon4:c.A319C:p.K107Q;ENSG00000141452:ENST00000590870:exon4:c.A319C:p.K107Q;	0.00746857630117085	0.092
18	21088003	A	G	18	23508039	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.A319G:p.K107E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.A319G:p.K107E;ENSG00000141452:ENST00000269221:exon4:c.A319G:p.K107E;ENSG00000141452:ENST00000587690:exon4:c.A319G:p.K107E;ENSG00000141452:ENST00000590870:exon4:c.A319G:p.K107E;	0.00149221219524662	0.092
18	21088003	A	T	18	23508039	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon4:c.A319T:p.K107X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000592119:exon4:c.A319T:p.K107X;ENSG00000141452:ENST00000269221:exon4:c.A319T:p.K107X;ENSG00000141452:ENST00000587690:exon4:c.A319T:p.K107X;ENSG00000141452:ENST00000590870:exon4:c.A319T:p.K107X;	0.398940923202282	0.586
18	21088004	A	C	18	23508040	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.A320C:p.K107T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.A320C:p.K107T;ENSG00000141452:ENST00000269221:exon4:c.A320C:p.K107T;ENSG00000141452:ENST00000587690:exon4:c.A320C:p.K107T;ENSG00000141452:ENST00000590870:exon4:c.A320C:p.K107T;	0.997734267246722	0.938
18	21088004	A	G	18	23508040	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.A320G:p.K107R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.A320G:p.K107R;ENSG00000141452:ENST00000589215:exon3:c.A235G:p.R79G;ENSG00000141452:ENST00000269221:exon4:c.A320G:p.K107R;ENSG00000141452:ENST00000587690:exon4:c.A320G:p.K107R;ENSG00000141452:ENST00000590870:exon4:c.A320G:p.K107R;	0.999030355681831	0.974
18	21088004	A	T	18	23508040	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.A320T:p.K107M;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000589215:exon3:c.A235T:p.R79X;	0.999551109464151	0.958
18	21088005	G	A	18	23508041	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon4:c.G321A:p.K107K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000589215:exon3:c.G236A:p.R79K;	0.999507123763852	0.998
18	21088005	G	C	18	23508041	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.G321C:p.K107N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.G321C:p.K107N;ENSG00000141452:ENST00000589215:exon3:c.G236C:p.R79T;ENSG00000141452:ENST00000269221:exon4:c.G321C:p.K107N;ENSG00000141452:ENST00000587690:exon4:c.G321C:p.K107N;ENSG00000141452:ENST00000590870:exon4:c.G321C:p.K107N;	0.999995566069353	1.0
18	21088005	G	T	18	23508041	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon4:c.G321T:p.K107N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon4:c.G321T:p.K107N;ENSG00000141452:ENST00000589215:exon3:c.G236T:p.R79I;ENSG00000141452:ENST00000269221:exon4:c.G321T:p.K107N;ENSG00000141452:ENST00000587690:exon4:c.G321T:p.K107N;ENSG00000141452:ENST00000590870:exon4:c.G321T:p.K107N;	0.999974482541608	0.986
18	21088006	G	A	18	23508042	y	y	splicing	C18orf8(NM_013326:exon4:c.321+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.321+1G>A;ENST00000589215:exon3:c.236+1G>A;ENST00000587690:exon4:c.321+1G>A;ENST00000590870:exon4:c.321+1G>A;ENST00000592119:exon4:c.321+1G>A)	.	.	0.999986675681007	0.93
18	21088006	G	C	18	23508042	y	y	splicing	C18orf8(NM_013326:exon4:c.321+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.321+1G>C;ENST00000589215:exon3:c.236+1G>C;ENST00000587690:exon4:c.321+1G>C;ENST00000590870:exon4:c.321+1G>C;ENST00000592119:exon4:c.321+1G>C)	.	.	0.999986675681007	0.93
18	21088006	G	T	18	23508042	y	y	splicing	C18orf8(NM_013326:exon4:c.321+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.321+1G>T;ENST00000589215:exon3:c.236+1G>T;ENST00000587690:exon4:c.321+1G>T;ENST00000590870:exon4:c.321+1G>T;ENST00000592119:exon4:c.321+1G>T)	.	.	0.999986675681007	0.93
18	21088007	T	A	18	23508043	y	y	splicing	C18orf8(NM_013326:exon4:c.321+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.321+2T>A;ENST00000589215:exon3:c.236+2T>A;ENST00000587690:exon4:c.321+2T>A;ENST00000590870:exon4:c.321+2T>A;ENST00000592119:exon4:c.321+2T>A)	.	.	0.999988247793601	0.924
18	21088007	T	C	18	23508043	y	y	splicing	C18orf8(NM_013326:exon4:c.321+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.321+2T>C;ENST00000589215:exon3:c.236+2T>C;ENST00000587690:exon4:c.321+2T>C;ENST00000590870:exon4:c.321+2T>C;ENST00000592119:exon4:c.321+2T>C)	.	.	0.986973409415639	0.616
18	21088007	T	G	18	23508043	y	y	splicing	C18orf8(NM_013326:exon4:c.321+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon4:c.321+2T>G;ENST00000589215:exon3:c.236+2T>G;ENST00000587690:exon4:c.321+2T>G;ENST00000590870:exon4:c.321+2T>G;ENST00000592119:exon4:c.321+2T>G)	.	.	0.999988247793601	0.924
18	21088008	A	C	18	23508044	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99650043513597	0.866
18	21088008	A	G	18	23508044	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.987569640821543	0.738
18	21088008	A	T	18	23508044	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.998226310989067	0.902
18	21088009	T	A	18	23508045	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.28331664777956E-5	0.016
18	21088009	T	C	18	23508045	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.44705269443353E-5	0.0
18	21088009	T	G	18	23508045	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.71227349840666E-5	0.002
18	21088010	G	A	18	23508046	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.12542334742465	0.536
18	21088010	G	C	18	23508046	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.430819875671408	0.516
18	21088010	G	T	18	23508046	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.542128663692177	0.548
18	21088011	A	C	18	23508047	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.44504686426814E-5	0.032
18	21088011	A	G	18	23508047	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.09461400286016E-5	0.004
18	21088011	A	T	18	23508047	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.06017304422322E-5	0.004
18	21088012	C	A	18	23508048	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.3519283322177E-6	0.0
18	21088012	C	G	18	23508048	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.49349333464341E-5	0.0
18	21088012	C	T	18	23508048	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.23461012334783E-5	0.0
18	21088013	C	A	18	23508049	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.4746558820345E-4	0.002
18	21088013	C	G	18	23508049	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.04809484159413E-4	0.004
18	21088013	C	T	18	23508049	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.29190393544025E-4	0.002
18	21088607	A	C	18	23508643	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.47039489069415E-5	0.002
18	21088607	A	G	18	23508643	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.47039489069415E-5	0.002
18	21088607	A	T	18	23508643	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.552751562108E-5	0.004
18	21088608	A	C	18	23508644	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.59660858139777E-5	0.004
18	21088608	A	G	18	23508644	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.59660858139777E-5	0.004
18	21088608	A	T	18	23508644	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.59660858139777E-5	0.004
18	21088609	T	A	18	23508645	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.90028566392549E-5	0.002
18	21088609	T	C	18	23508645	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.552751562108E-5	0.006
18	21088609	T	G	18	23508645	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.552751562108E-5	0.006
18	21088610	G	A	18	23508646	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.33540649809375E-5	0.052
18	21088610	G	C	18	23508646	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.41479918444897E-5	0.058
18	21088610	G	T	18	23508646	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.41479918444897E-5	0.058
18	21088611	G	A	18	23508647	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.39529611572298E-5	0.004
18	21088611	G	C	18	23508647	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.39529611572298E-5	0.004
18	21088611	G	T	18	23508647	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.39529611572298E-5	0.004
18	21088612	A	C	18	23508648	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.16513864069796E-5	0.002
18	21088612	A	G	18	23508648	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.16513864069796E-5	0.002
18	21088612	A	T	18	23508648	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.25721173904076E-5	0.0
18	21088613	G	A	18	23508649	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.86879639678869E-4	0.0
18	21088613	G	C	18	23508649	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.38511446188456E-4	0.002
18	21088613	G	T	18	23508649	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.40008694359421E-4	0.006
18	21088614	T	A	18	23508650	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.56524208923312E-4	0.0
18	21088614	T	C	18	23508650	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.5480235718294E-5	0.0
18	21088614	T	G	18	23508650	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.5480235718294E-5	0.0
18	21088615	T	A	18	23508651	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00145598400866353	0.046
18	21088615	T	C	18	23508651	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0011546168173277	0.032
18	21088615	T	G	18	23508651	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0011546168173277	0.028
18	21088616	C	A	18	23508652	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.19523722086209E-5	0.0
18	21088616	C	G	18	23508652	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.19523722086209E-5	0.0
18	21088616	C	T	18	23508652	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.12581597765867E-4	0.0
18	21088617	A	C	18	23508653	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.322-2A>C)	.	.	1.45387536832266E-4	0.002
18	21088617	A	G	18	23508653	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.322-2A>G)	.	.	1.45387536832266E-4	0.002
18	21088617	A	T	18	23508653	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.322-2A>T)	.	.	2.69844050747639E-4	0.0
18	21088618	G	A	18	23508654	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.322-1G>A)	.	.	8.70002355918029E-5	0.0
18	21088618	G	C	18	23508654	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.322-1G>C)	.	.	4.19523722086209E-5	0.0
18	21088618	G	T	18	23508654	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.322-1G>T)	.	.	4.19523722086209E-5	0.0
18	21088619	G	A	18	23508655	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G322A:p.G108S;	8.20576206096585E-5	0.002
18	21088619	G	C	18	23508655	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G322C:p.G108R;	5.01212398005583E-5	0.0
18	21088619	G	T	18	23508655	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G322T:p.G108C;	5.83207216097928E-5	0.0
18	21088620	G	A	18	23508656	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G323A:p.G108D;	5.67891142965171E-5	0.0
18	21088620	G	C	18	23508656	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G323C:p.G108A;	3.951189346585E-5	0.0
18	21088620	G	T	18	23508656	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G323T:p.G108V;	5.67891142965171E-5	0.0
18	21088738	C	A	18	23508774	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.C441A:p.V147V;	4.87872098031522E-5	0.0
18	21088738	C	G	18	23508774	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.C441G:p.V147V;	4.87872098031522E-5	0.002
18	21088738	C	T	18	23508774	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.C441T:p.V147V;	4.87872098031522E-5	0.0
18	21088739	G	A	18	23508775	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G442A:p.G148R;	7.97552862615456E-6	0.0
18	21088739	G	C	18	23508775	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G442C:p.G148R;	5.16330829822682E-6	0.004
18	21088739	G	T	18	23508775	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000587690:exon5:c.G442T:p.G148X;	5.16330829822682E-6	0.02
18	21088740	G	A	18	23508776	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G443A:p.G148E;	5.08291490468438E-5	0.022
18	21088740	G	C	18	23508776	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G443C:p.G148A;	5.08291490468438E-5	0.006
18	21088740	G	T	18	23508776	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000587690:exon5:c.G443T:p.G148V;	5.08291490468438E-5	0.008
18	21088741	G	A	18	23508777	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.443+1G>A)	.	.	1.80274866394675E-5	0.0
18	21088741	G	C	18	23508777	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.443+1G>C)	.	.	1.80274866394675E-5	0.0
18	21088741	G	T	18	23508777	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.443+1G>T)	.	.	1.80274866394675E-5	0.0
18	21088742	T	A	18	23508778	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.443+2T>A)	.	.	1.20590404879984E-5	0.0
18	21088742	T	C	18	23508778	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.443+2T>C)	.	.	1.20590404879984E-5	0.0
18	21088742	T	G	18	23508778	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000587690:exon5:c.443+2T>G)	.	.	1.20590404879984E-5	0.0
18	21088743	G	A	18	23508779	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.10275622159801E-5	0.002
18	21088743	G	C	18	23508779	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.10275622159801E-5	0.002
18	21088743	G	T	18	23508779	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.10275622159801E-5	0.002
18	21088744	T	A	18	23508780	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.63360899965148E-5	0.01
18	21088744	T	C	18	23508780	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.52173701430229E-5	0.006
18	21088744	T	G	18	23508780	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.52173701430229E-5	0.006
18	21088745	G	A	18	23508781	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.52773432237745E-4	0.012
18	21088745	G	C	18	23508781	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.52773432237745E-4	0.014
18	21088745	G	T	18	23508781	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.52773432237745E-4	0.012
18	21088746	T	A	18	23508782	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.49702646665041E-5	0.004
18	21088746	T	C	18	23508782	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.08802802279601E-5	0.004
18	21088746	T	G	18	23508782	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.08802802279601E-5	0.004
18	21088747	G	A	18	23508783	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.46039206459424E-4	0.0
18	21088747	G	C	18	23508783	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.46039206459424E-4	0.0
18	21088747	G	T	18	23508783	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.46039206459424E-4	0.0
18	21088748	T	A	18	23508784	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.83891202920338E-5	0.0
18	21088748	T	C	18	23508784	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.83891202920338E-5	0.01
18	21088748	T	G	18	23508784	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.83891202920338E-5	0.008
18	21089145	A	C	18	23509181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.33324118552655E-4	0.006
18	21089145	A	G	18	23509181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.998717403547318	0.988
18	21089145	A	T	18	23509181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.28231311891358E-5	0.014
18	21089146	A	C	18	23509182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.1964927222888E-5	0.0
18	21089146	A	G	18	23509182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.984900824751048	0.964
18	21089146	A	T	18	23509182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.28799751508408E-5	0.028
18	21089147	T	A	18	23509183	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.178245178883173	0.548
18	21089147	T	C	18	23509183	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.15646802035296E-4	0.156
18	21089147	T	G	18	23509183	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999785336657262	0.956
18	21089148	T	A	18	23509184	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.022409860338151	0.49
18	21089148	T	C	18	23509184	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.375118095167E-4	0.028
18	21089148	T	G	18	23509184	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0133628656648818	0.408
18	21089149	T	A	18	23509185	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00623407584590564	0.172
18	21089149	T	C	18	23509185	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.00967159512948E-4	0.028
18	21089149	T	G	18	23509185	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.94208395052246E-4	0.142
18	21089150	T	A	18	23509186	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0170772939705355	0.172
18	21089150	T	C	18	23509186	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.33477616406877E-4	0.012
18	21089150	T	G	18	23509186	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0198907745581043	0.194
18	21089151	T	A	18	23509187	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.536637470811518	0.62
18	21089151	T	C	18	23509187	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.576625884264E-4	0.056
18	21089151	T	G	18	23509187	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.955031925249522	0.67
18	21089152	C	A	18	23509188	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00474353932506574	0.148
18	21089152	C	G	18	23509188	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0268376747110194	0.184
18	21089152	C	T	18	23509188	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.27121079861967E-4	0.008
18	21089153	T	A	18	23509189	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.08168577626199E-5	0.0
18	21089153	T	C	18	23509189	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.36023210555595E-5	0.02
18	21089153	T	G	18	23509189	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.12963635184573E-4	0.062
18	21089154	T	A	18	23509190	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.321013984116021	0.502
18	21089154	T	C	18	23509190	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.80577136989956E-5	0.132
18	21089154	T	G	18	23509190	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.968252314979354	0.722
18	21089155	A	C	18	23509191	y	y	splicing	C18orf8(NM_013326:exon5:c.322-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.322-2A>C;ENST00000589215:exon4:c.237-2A>C;ENST00000587690:exon6:c.444-2A>C;ENST00000589860:exon3:c.180-2A>C;ENST00000590870:exon5:c.322-2A>C;ENST00000592119:exon5:c.322-2A>C)	.	.	0.999986741007567	0.944
18	21089155	A	G	18	23509191	y	y	splicing	C18orf8(NM_013326:exon5:c.322-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.322-2A>G;ENST00000589215:exon4:c.237-2A>G;ENST00000587690:exon6:c.444-2A>G;ENST00000589860:exon3:c.180-2A>G;ENST00000590870:exon5:c.322-2A>G;ENST00000592119:exon5:c.322-2A>G)	.	.	0.999986741007567	0.944
18	21089155	A	T	18	23509191	y	y	splicing	C18orf8(NM_013326:exon5:c.322-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.322-2A>T;ENST00000589215:exon4:c.237-2A>T;ENST00000587690:exon6:c.444-2A>T;ENST00000589860:exon3:c.180-2A>T;ENST00000590870:exon5:c.322-2A>T;ENST00000592119:exon5:c.322-2A>T)	.	.	0.999986741007567	0.944
18	21089156	G	A	18	23509192	y	y	splicing	C18orf8(NM_013326:exon5:c.322-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.322-1G>A;ENST00000589215:exon4:c.237-1G>A;ENST00000587690:exon6:c.444-1G>A;ENST00000589860:exon3:c.180-1G>A;ENST00000590870:exon5:c.322-1G>A;ENST00000592119:exon5:c.322-1G>A)	.	.	0.999989125585301	0.944
18	21089156	G	C	18	23509192	y	y	splicing	C18orf8(NM_013326:exon5:c.322-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.322-1G>C;ENST00000589215:exon4:c.237-1G>C;ENST00000587690:exon6:c.444-1G>C;ENST00000589860:exon3:c.180-1G>C;ENST00000590870:exon5:c.322-1G>C;ENST00000592119:exon5:c.322-1G>C)	.	.	0.999989125585301	0.944
18	21089156	G	T	18	23509192	y	y	splicing	C18orf8(NM_013326:exon5:c.322-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.322-1G>T;ENST00000589215:exon4:c.237-1G>T;ENST00000587690:exon6:c.444-1G>T;ENST00000589860:exon3:c.180-1G>T;ENST00000590870:exon5:c.322-1G>T;ENST00000592119:exon5:c.322-1G>T)	.	.	0.999989125585301	0.944
18	21089157	A	C	18	23509193	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.A322C:p.T108P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.A322C:p.T108P;ENSG00000141452:ENST00000589215:exon4:c.A237C:p.R79S;ENSG00000141452:ENST00000269221:exon5:c.A322C:p.T108P;ENSG00000141452:ENST00000589860:exon3:c.A180C:p.R60S;ENSG00000141452:ENST00000590870:exon5:c.A322C:p.T108P;	0.981720230887014	0.702
18	21089157	A	G	18	23509193	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.A322G:p.T108A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.A322G:p.T108A;ENSG00000141452:ENST00000269221:exon5:c.A322G:p.T108A;ENSG00000141452:ENST00000590870:exon5:c.A322G:p.T108A;	0.00222557416558236	0.048
18	21089157	A	T	18	23509193	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.A322T:p.T108S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.A322T:p.T108S;ENSG00000141452:ENST00000589215:exon4:c.A237T:p.R79S;ENSG00000141452:ENST00000269221:exon5:c.A322T:p.T108S;ENSG00000141452:ENST00000589860:exon3:c.A180T:p.R60S;ENSG00000141452:ENST00000590870:exon5:c.A322T:p.T108S;	0.125615056574101	0.312
18	21089158	C	A	18	23509194	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.C323A:p.T108N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.C323A:p.T108N;ENSG00000141452:ENST00000589215:exon4:c.C238A:p.L80I;ENSG00000141452:ENST00000269221:exon5:c.C323A:p.T108N;ENSG00000141452:ENST00000589860:exon3:c.C181A:p.L61I;ENSG00000141452:ENST00000587690:exon6:c.C445A:p.L149I;ENSG00000141452:ENST00000590870:exon5:c.C323A:p.T108N;	0.0523653957570906	0.186
18	21089158	C	G	18	23509194	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.C323G:p.T108S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.C323G:p.T108S;ENSG00000141452:ENST00000589215:exon4:c.C238G:p.L80V;ENSG00000141452:ENST00000269221:exon5:c.C323G:p.T108S;ENSG00000141452:ENST00000589860:exon3:c.C181G:p.L61V;ENSG00000141452:ENST00000587690:exon6:c.C445G:p.L149V;ENSG00000141452:ENST00000590870:exon5:c.C323G:p.T108S;	0.00359962684661209	0.114
18	21089158	C	T	18	23509194	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.C323T:p.T108I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.C323T:p.T108I;ENSG00000141452:ENST00000269221:exon5:c.C323T:p.T108I;ENSG00000141452:ENST00000590870:exon5:c.C323T:p.T108I;	0.015923098652108	0.204
18	21089241	C	A	18	23509277	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.C406A:p.Q136K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.C406A:p.Q136K;ENSG00000141452:ENST00000269221:exon5:c.C406A:p.Q136K;ENSG00000141452:ENST00000590870:exon5:c.C406A:p.Q136K;	0.907348905101677	0.636
18	21089241	C	G	18	23509277	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.C406G:p.Q136E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.C406G:p.Q136E;ENSG00000141452:ENST00000269221:exon5:c.C406G:p.Q136E;ENSG00000141452:ENST00000590870:exon5:c.C406G:p.Q136E;	0.929550796192445	0.69
18	21089241	C	T	18	23509277	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon5:c.C406T:p.Q136X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000592119:exon5:c.C406T:p.Q136X;ENSG00000141452:ENST00000269221:exon5:c.C406T:p.Q136X;ENSG00000141452:ENST00000590870:exon5:c.C406T:p.Q136X;	0.999901430691206	0.99
18	21089242	A	C	18	23509278	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.A407C:p.Q136P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.A407C:p.Q136P;ENSG00000141452:ENST00000269221:exon5:c.A407C:p.Q136P;ENSG00000141452:ENST00000590870:exon5:c.A407C:p.Q136P;	0.999932333886407	1.0
18	21089242	A	G	18	23509278	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.A407G:p.Q136R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.A407G:p.Q136R;ENSG00000141452:ENST00000269221:exon5:c.A407G:p.Q136R;ENSG00000141452:ENST00000590870:exon5:c.A407G:p.Q136R;	0.999951127508643	1.0
18	21089242	A	T	18	23509278	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.A407T:p.Q136L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.A407T:p.Q136L;ENSG00000141452:ENST00000269221:exon5:c.A407T:p.Q136L;ENSG00000141452:ENST00000590870:exon5:c.A407T:p.Q136L;	0.999980736929449	1.0
18	21089243	G	A	18	23509279	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon5:c.G408A:p.Q136Q;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.G408A:p.Q136Q;ENSG00000141452:ENST00000269221:exon5:c.G408A:p.Q136Q;ENSG00000141452:ENST00000590870:exon5:c.G408A:p.Q136Q;	0.999975417478774	0.998
18	21089243	G	C	18	23509279	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.G408C:p.Q136H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.G408C:p.Q136H;ENSG00000141452:ENST00000269221:exon5:c.G408C:p.Q136H;ENSG00000141452:ENST00000590870:exon5:c.G408C:p.Q136H;	0.999997021997492	1.0
18	21089243	G	T	18	23509279	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon5:c.G408T:p.Q136H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon5:c.G408T:p.Q136H;ENSG00000141452:ENST00000269221:exon5:c.G408T:p.Q136H;ENSG00000141452:ENST00000590870:exon5:c.G408T:p.Q136H;	0.999993616571674	1.0
18	21089244	G	A	18	23509280	y	y	splicing	C18orf8(NM_013326:exon5:c.408+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.408+1G>A;ENST00000589215:exon4:c.323+1G>A;ENST00000587690:exon6:c.530+1G>A;ENST00000589860:exon3:c.266+1G>A;ENST00000590870:exon5:c.408+1G>A;ENST00000592119:exon5:c.408+1G>A)	.	.	0.999989125585301	0.944
18	21089244	G	C	18	23509280	y	y	splicing	C18orf8(NM_013326:exon5:c.408+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.408+1G>C;ENST00000589215:exon4:c.323+1G>C;ENST00000587690:exon6:c.530+1G>C;ENST00000589860:exon3:c.266+1G>C;ENST00000590870:exon5:c.408+1G>C;ENST00000592119:exon5:c.408+1G>C)	.	.	0.999989125585301	0.944
18	21089244	G	T	18	23509280	y	y	splicing	C18orf8(NM_013326:exon5:c.408+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.408+1G>T;ENST00000589215:exon4:c.323+1G>T;ENST00000587690:exon6:c.530+1G>T;ENST00000589860:exon3:c.266+1G>T;ENST00000590870:exon5:c.408+1G>T;ENST00000592119:exon5:c.408+1G>T)	.	.	0.999989125585301	0.944
18	21089245	T	A	18	23509281	y	y	splicing	C18orf8(NM_013326:exon5:c.408+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.408+2T>A;ENST00000589215:exon4:c.323+2T>A;ENST00000587690:exon6:c.530+2T>A;ENST00000589860:exon3:c.266+2T>A;ENST00000590870:exon5:c.408+2T>A;ENST00000592119:exon5:c.408+2T>A)	.	.	0.999986741007567	0.946
18	21089245	T	C	18	23509281	y	y	splicing	C18orf8(NM_013326:exon5:c.408+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.408+2T>C;ENST00000589215:exon4:c.323+2T>C;ENST00000587690:exon6:c.530+2T>C;ENST00000589860:exon3:c.266+2T>C;ENST00000590870:exon5:c.408+2T>C;ENST00000592119:exon5:c.408+2T>C)	.	.	0.993145312654169	0.704
18	21089245	T	G	18	23509281	y	y	splicing	C18orf8(NM_013326:exon5:c.408+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon5:c.408+2T>G;ENST00000589215:exon4:c.323+2T>G;ENST00000587690:exon6:c.530+2T>G;ENST00000589860:exon3:c.266+2T>G;ENST00000590870:exon5:c.408+2T>G;ENST00000592119:exon5:c.408+2T>G)	.	.	0.999986741007567	0.946
18	21089246	A	C	18	23509282	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999403177332674	0.868
18	21089246	A	G	18	23509282	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.996449946635483	0.786
18	21089246	A	T	18	23509282	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999403177332674	0.9
18	21089247	T	A	18	23509283	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.18927764198046E-4	0.096
18	21089247	T	C	18	23509283	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.64820265743924E-4	0.098
18	21089247	T	G	18	23509283	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.44863763418757E-4	0.06
18	21089248	T	A	18	23509284	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.12586674582838E-5	0.02
18	21089248	T	C	18	23509284	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.11848901048002E-5	0.01
18	21089248	T	G	18	23509284	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.71845750471395E-5	0.01
18	21089249	A	C	18	23509285	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00144413204086859	0.036
18	21089249	A	G	18	23509285	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.00133385762108E-4	0.004
18	21089249	A	T	18	23509285	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.11134804707609E-5	0.054
18	21089250	T	A	18	23509286	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.49044956136662E-4	0.0
18	21089250	T	C	18	23509286	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.07885625527724E-4	0.0
18	21089250	T	G	18	23509286	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.68916126596642E-4	0.004
18	21089251	G	A	18	23509287	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.92854649438948E-4	0.096
18	21089251	G	C	18	23509287	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.50022403085602E-5	0.004
18	21089251	G	T	18	23509287	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.29754111440692E-5	0.002
18	21089557	C	A	18	23509593	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.20590404879984E-5	0.0
18	21089557	C	G	18	23509593	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.20590404879984E-5	0.0
18	21089557	C	T	18	23509593	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.20590404879984E-5	0.0
18	21089558	T	A	18	23509594	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.57123356397867E-5	0.018
18	21089558	T	C	18	23509594	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.57123356397867E-5	0.018
18	21089558	T	G	18	23509594	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.57123356397867E-5	0.018
18	21089559	T	A	18	23509595	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.27163650926202E-4	0.026
18	21089559	T	C	18	23509595	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.57123356397867E-5	0.02
18	21089559	T	G	18	23509595	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.57123356397867E-5	0.02
18	21089560	G	A	18	23509596	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.002
18	21089560	G	C	18	23509596	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.002
18	21089560	G	T	18	23509596	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.002
18	21089561	T	A	18	23509597	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.0
18	21089561	T	C	18	23509597	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.0
18	21089561	T	G	18	23509597	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.0
18	21089562	T	A	18	23509598	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.58927937202005E-5	0.008
18	21089562	T	C	18	23509598	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.58927937202005E-5	0.024
18	21089562	T	G	18	23509598	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.58927937202005E-5	0.01
18	21089563	G	A	18	23509599	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.0
18	21089563	G	C	18	23509599	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.0
18	21089563	G	T	18	23509599	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.68219155180855E-5	0.0
18	21089564	C	A	18	23509600	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.9818138904481E-6	0.0
18	21089564	C	G	18	23509600	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.9818138904481E-6	0.004
18	21089564	C	T	18	23509600	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.38737725265557E-5	0.0
18	21089565	C	A	18	23509601	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.38737725265557E-5	0.0
18	21089565	C	G	18	23509601	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.9818138904481E-6	0.012
18	21089565	C	T	18	23509601	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.38737725265557E-5	0.0
18	21089566	C	A	18	23509602	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.43694043849836E-5	0.028
18	21089566	C	G	18	23509602	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.43694043849836E-5	0.028
18	21089566	C	T	18	23509602	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.43694043849836E-5	0.028
18	21089567	A	C	18	23509603	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000592119:exon6:c.409-2A>C)	.	.	2.60742385600787E-5	0.014
18	21089567	A	G	18	23509603	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000592119:exon6:c.409-2A>G)	.	.	2.60742385600787E-5	0.014
18	21089567	A	T	18	23509603	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000592119:exon6:c.409-2A>T)	.	.	2.60742385600787E-5	0.018
18	21089568	G	A	18	23509604	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000592119:exon6:c.409-1G>A)	.	.	3.32651317629065E-5	0.014
18	21089568	G	C	18	23509604	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000592119:exon6:c.409-1G>C)	.	.	3.32651317629065E-5	0.014
18	21089568	G	T	18	23509604	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000592119:exon6:c.409-1G>T)	.	.	3.32651317629065E-5	0.014
18	21089569	G	A	18	23509605	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon6:c.G409A:p.A137T;	3.32651317629065E-5	0.014
18	21089569	G	C	18	23509605	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon6:c.G409C:p.A137P;	2.15358342454107E-5	0.014
18	21089569	G	T	18	23509605	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon6:c.G409T:p.A137S;	3.32651317629065E-5	0.014
18	21089570	C	A	18	23509606	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon6:c.C410A:p.A137D;	1.99153316237132E-5	0.0
18	21089570	C	G	18	23509606	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon6:c.C410G:p.A137G;	1.99153316237132E-5	0.0
18	21089570	C	T	18	23509606	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000592119:exon6:c.C410T:p.A137V;	1.99153316237132E-5	0.0
18	21095808	A	C	18	23515844	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.48541002439518E-5	0.0
18	21095808	A	G	18	23515844	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999509234020342	0.98
18	21095808	A	T	18	23515844	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.2199803815071E-4	0.01
18	21095809	C	A	18	23515845	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00357656998123868	0.078
18	21095809	C	G	18	23515845	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999055383307959	0.972
18	21095809	C	T	18	23515845	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.23025430879992E-5	0.006
18	21095810	T	A	18	23515846	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0235242181091545	0.292
18	21095810	T	C	18	23515846	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.7160973651353E-4	0.02
18	21095810	T	G	18	23515846	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0238737823199135	0.222
18	21095811	C	A	18	23515847	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.43418274559934E-4	0.108
18	21095811	C	G	18	23515847	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.7407474849749E-4	0.02
18	21095811	C	T	18	23515847	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.72625469632347E-5	0.0
18	21095812	T	A	18	23515848	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.993908418261425	0.902
18	21095812	T	C	18	23515848	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.29157518878768E-5	0.014
18	21095812	T	G	18	23515848	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00271314963218599	0.074
18	21095813	G	A	18	23515849	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.86458882688635E-4	0.008
18	21095813	G	C	18	23515849	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.70809566314712E-5	0.01
18	21095813	G	T	18	23515849	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.78923123880273E-5	0.004
18	21095814	C	A	18	23515850	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00790085015697649	0.206
18	21095814	C	G	18	23515850	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0114067855372853	0.206
18	21095814	C	T	18	23515850	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.35998044147896E-4	0.064
18	21095815	T	A	18	23515851	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.777443266568783	0.426
18	21095815	T	C	18	23515851	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.10507495085187E-4	0.052
18	21095815	T	G	18	23515851	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.590427813720699	0.406
18	21095816	T	A	18	23515852	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.73646724085179E-4	0.002
18	21095816	T	C	18	23515852	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.50812909381749E-5	0.002
18	21095816	T	G	18	23515852	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.1954852770183E-4	0.004
18	21095817	C	A	18	23515853	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.9485743611139	0.666
18	21095817	C	G	18	23515853	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999677639902285	0.928
18	21095817	C	T	18	23515853	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.84091737477802E-4	0.118
18	21095818	A	C	18	23515854	y	y	splicing	C18orf8(NM_001276342:exon4:c.265-2A>C;NM_013326:exon6:c.409-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.409-2A>C;ENST00000589215:exon5:c.324-2A>C;ENST00000590868:exon4:c.265-2A>C;ENST00000587690:exon7:c.531-2A>C;ENST00000589860:exon4:c.267-2A>C;ENST00000590870:exon6:c.409-2A>C)	.	.	0.999988247793601	0.928
18	21095818	A	G	18	23515854	y	y	splicing	C18orf8(NM_001276342:exon4:c.265-2A>G;NM_013326:exon6:c.409-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.409-2A>G;ENST00000589215:exon5:c.324-2A>G;ENST00000590868:exon4:c.265-2A>G;ENST00000587690:exon7:c.531-2A>G;ENST00000589860:exon4:c.267-2A>G;ENST00000590870:exon6:c.409-2A>G)	.	.	0.999988247793601	0.928
18	21095818	A	T	18	23515854	y	y	splicing	C18orf8(NM_001276342:exon4:c.265-2A>T;NM_013326:exon6:c.409-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.409-2A>T;ENST00000589215:exon5:c.324-2A>T;ENST00000590868:exon4:c.265-2A>T;ENST00000587690:exon7:c.531-2A>T;ENST00000589860:exon4:c.267-2A>T;ENST00000590870:exon6:c.409-2A>T)	.	.	0.999988247793601	0.928
18	21095819	G	A	18	23515855	y	y	splicing	C18orf8(NM_001276342:exon4:c.265-1G>A;NM_013326:exon6:c.409-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.409-1G>A;ENST00000589215:exon5:c.324-1G>A;ENST00000590868:exon4:c.265-1G>A;ENST00000587690:exon7:c.531-1G>A;ENST00000589860:exon4:c.267-1G>A;ENST00000590870:exon6:c.409-1G>A)	.	.	0.999985532734767	0.936
18	21095819	G	C	18	23515855	y	y	splicing	C18orf8(NM_001276342:exon4:c.265-1G>C;NM_013326:exon6:c.409-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.409-1G>C;ENST00000589215:exon5:c.324-1G>C;ENST00000590868:exon4:c.265-1G>C;ENST00000587690:exon7:c.531-1G>C;ENST00000589860:exon4:c.267-1G>C;ENST00000590870:exon6:c.409-1G>C)	.	.	0.999985532734767	0.936
18	21095819	G	T	18	23515855	y	y	splicing	C18orf8(NM_001276342:exon4:c.265-1G>T;NM_013326:exon6:c.409-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.409-1G>T;ENST00000589215:exon5:c.324-1G>T;ENST00000590868:exon4:c.265-1G>T;ENST00000587690:exon7:c.531-1G>T;ENST00000589860:exon4:c.267-1G>T;ENST00000590870:exon6:c.409-1G>T)	.	.	0.999985532734767	0.936
18	21095820	G	A	18	23515856	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.G409A:p.V137I;C18orf8:NM_001276342:exon4:c.G265A:p.V89I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G409A:p.V137I;ENSG00000141452:ENST00000590870:exon6:c.G409A:p.V137I;ENSG00000141452:ENST00000590868:exon4:c.G265A:p.V89I;	0.998358756050744	0.86
18	21095820	G	C	18	23515856	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.G409C:p.V137L;C18orf8:NM_001276342:exon4:c.G265C:p.V89L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G409C:p.V137L;ENSG00000141452:ENST00000590870:exon6:c.G409C:p.V137L;ENSG00000141452:ENST00000590868:exon4:c.G265C:p.V89L;	0.999546300656982	0.952
18	21095820	G	T	18	23515856	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.G409T:p.V137L;C18orf8:NM_001276342:exon4:c.G265T:p.V89L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G409T:p.V137L;ENSG00000141452:ENST00000590870:exon6:c.G409T:p.V137L;ENSG00000141452:ENST00000590868:exon4:c.G265T:p.V89L;	0.999650789138341	0.982
18	21095821	T	A	18	23515857	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.T410A:p.V137E;C18orf8:NM_001276342:exon4:c.T266A:p.V89E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.T410A:p.V137E;ENSG00000141452:ENST00000590870:exon6:c.T410A:p.V137E;ENSG00000141452:ENST00000590868:exon4:c.T266A:p.V89E;	0.555462546177056	0.544
18	21095821	T	C	18	23515857	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.T410C:p.V137A;C18orf8:NM_001276342:exon4:c.T266C:p.V89A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.T410C:p.V137A;ENSG00000141452:ENST00000590870:exon6:c.T410C:p.V137A;ENSG00000141452:ENST00000590868:exon4:c.T266C:p.V89A;	0.340806335737251	0.59
18	21095821	T	G	18	23515857	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.T410G:p.V137G;C18orf8:NM_001276342:exon4:c.T266G:p.V89G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.T410G:p.V137G;ENSG00000141452:ENST00000590870:exon6:c.T410G:p.V137G;ENSG00000141452:ENST00000590868:exon4:c.T266G:p.V89G;	0.55492360781819	0.572
18	21095958	A	C	18	23515994	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon6:c.A547C:p.R183R;C18orf8:NM_001276342:exon4:c.A403C:p.R135R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.A547C:p.R183R;ENSG00000141452:ENST00000590870:exon6:c.A547C:p.R183R;ENSG00000141452:ENST00000590868:exon4:c.A403C:p.R135R;	1.05342097394149E-4	0.004
18	21095958	A	G	18	23515994	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.A547G:p.R183G;C18orf8:NM_001276342:exon4:c.A403G:p.R135G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.A547G:p.R183G;ENSG00000141452:ENST00000590870:exon6:c.A547G:p.R183G;ENSG00000141452:ENST00000590868:exon4:c.A403G:p.R135G;	0.0119314631638019	0.038
18	21095958	A	T	18	23515994	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.A547T:p.R183W;C18orf8:NM_001276342:exon4:c.A403T:p.R135W;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.A547T:p.R183W;ENSG00000141452:ENST00000590870:exon6:c.A547T:p.R183W;ENSG00000141452:ENST00000590868:exon4:c.A403T:p.R135W;	0.0297328521516147	0.218
18	21095959	G	A	18	23515995	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.G548A:p.R183K;C18orf8:NM_001276342:exon4:c.G404A:p.R135K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G548A:p.R183K;ENSG00000141452:ENST00000590870:exon6:c.G548A:p.R183K;ENSG00000141452:ENST00000590868:exon4:c.G404A:p.R135K;	1.64055229350442E-4	0.07
18	21095959	G	C	18	23515995	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.G548C:p.R183T;C18orf8:NM_001276342:exon4:c.G404C:p.R135T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G548C:p.R183T;ENSG00000141452:ENST00000590870:exon6:c.G548C:p.R183T;ENSG00000141452:ENST00000590868:exon4:c.G404C:p.R135T;	3.58587124588228E-4	0.004
18	21095959	G	T	18	23515995	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.G548T:p.R183M;C18orf8:NM_001276342:exon4:c.G404T:p.R135M;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G548T:p.R183M;ENSG00000141452:ENST00000590870:exon6:c.G548T:p.R183M;ENSG00000141452:ENST00000590868:exon4:c.G404T:p.R135M;	0.00381498345871451	0.1
18	21095960	G	A	18	23515996	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon6:c.G549A:p.R183R;C18orf8:NM_001276342:exon4:c.G405A:p.R135R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G549A:p.R183R;ENSG00000141452:ENST00000590870:exon6:c.G549A:p.R183R;ENSG00000141452:ENST00000590868:exon4:c.G405A:p.R135R;	0.999904884888625	0.99
18	21095960	G	C	18	23515996	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.G549C:p.R183S;C18orf8:NM_001276342:exon4:c.G405C:p.R135S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G549C:p.R183S;ENSG00000141452:ENST00000590870:exon6:c.G549C:p.R183S;ENSG00000141452:ENST00000590868:exon4:c.G405C:p.R135S;	0.999981930882821	0.98
18	21095960	G	T	18	23515996	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon6:c.G549T:p.R183S;C18orf8:NM_001276342:exon4:c.G405T:p.R135S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon6:c.G549T:p.R183S;ENSG00000141452:ENST00000590870:exon6:c.G549T:p.R183S;ENSG00000141452:ENST00000590868:exon4:c.G405T:p.R135S;	0.999992536484381	0.998
18	21095961	G	A	18	23515997	y	y	splicing	C18orf8(NM_001276342:exon4:c.405+1G>A;NM_013326:exon6:c.549+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.549+1G>A;ENST00000589215:exon5:c.464+1G>A;ENST00000590868:exon4:c.405+1G>A;ENST00000589860:exon4:c.407+1G>A;ENST00000590870:exon6:c.549+1G>A)	.	.	0.999990361384395	0.938
18	21095961	G	C	18	23515997	y	y	splicing	C18orf8(NM_001276342:exon4:c.405+1G>C;NM_013326:exon6:c.549+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.549+1G>C;ENST00000589215:exon5:c.464+1G>C;ENST00000590868:exon4:c.405+1G>C;ENST00000589860:exon4:c.407+1G>C;ENST00000590870:exon6:c.549+1G>C)	.	.	0.999990361384395	0.938
18	21095961	G	T	18	23515997	y	y	splicing	C18orf8(NM_001276342:exon4:c.405+1G>T;NM_013326:exon6:c.549+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.549+1G>T;ENST00000589215:exon5:c.464+1G>T;ENST00000590868:exon4:c.405+1G>T;ENST00000589860:exon4:c.407+1G>T;ENST00000590870:exon6:c.549+1G>T)	.	.	0.999990361384395	0.938
18	21095962	T	A	18	23515998	y	y	splicing	C18orf8(NM_001276342:exon4:c.405+2T>A;NM_013326:exon6:c.549+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.549+2T>A;ENST00000589215:exon5:c.464+2T>A;ENST00000590868:exon4:c.405+2T>A;ENST00000589860:exon4:c.407+2T>A;ENST00000590870:exon6:c.549+2T>A)	.	.	0.999988247793601	0.932
18	21095962	T	C	18	23515998	y	y	splicing	C18orf8(NM_001276342:exon4:c.405+2T>C;NM_013326:exon6:c.549+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.549+2T>C;ENST00000589215:exon5:c.464+2T>C;ENST00000590868:exon4:c.405+2T>C;ENST00000589860:exon4:c.407+2T>C;ENST00000590870:exon6:c.549+2T>C)	.	.	0.999931547473318	0.894
18	21095962	T	G	18	23515998	y	y	splicing	C18orf8(NM_001276342:exon4:c.405+2T>G;NM_013326:exon6:c.549+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon6:c.549+2T>G;ENST00000589215:exon5:c.464+2T>G;ENST00000590868:exon4:c.405+2T>G;ENST00000589860:exon4:c.407+2T>G;ENST00000590870:exon6:c.549+2T>G)	.	.	0.999988247793601	0.932
18	21095963	A	C	18	23515999	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.994875620512513	0.736
18	21095963	A	G	18	23515999	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.062621796814473	0.406
18	21095963	A	T	18	23515999	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.996378872389411	0.678
18	21095964	A	C	18	23516000	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.992145560440124	0.634
18	21095964	A	G	18	23516000	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.996799090358699	0.734
18	21095964	A	T	18	23516000	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.992316700765579	0.684
18	21095965	G	A	18	23516001	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999868313907412	0.886
18	21095965	G	C	18	23516001	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999634782762425	0.974
18	21095965	G	T	18	23516001	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999804441465726	0.822
18	21095966	A	C	18	23516002	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.81415454557121E-4	0.016
18	21095966	A	G	18	23516002	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.36570661516203E-4	0.002
18	21095966	A	T	18	23516002	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.64526560328462E-5	0.004
18	21095967	G	A	18	23516003	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.43100791824472E-4	0.008
18	21095967	G	C	18	23516003	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.12741419223626E-4	0.006
18	21095967	G	T	18	23516003	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.01298255262944E-4	0.006
18	21095968	G	A	18	23516004	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.51116515816085E-5	0.0
18	21095968	G	C	18	23516004	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.51116515816085E-5	0.0
18	21095968	G	T	18	23516004	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.51116515816085E-5	0.0
18	21096272	C	A	18	23516308	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00200825876327597	0.03
18	21096272	C	G	18	23516308	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.45188458818212E-4	0.012
18	21096272	C	T	18	23516308	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.17944167389036E-5	0.0
18	21096273	C	A	18	23516309	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00394985965674994	0.168
18	21096273	C	G	18	23516309	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.3175995101055E-4	0.182
18	21096273	C	T	18	23516309	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.04485398899708E-4	0.004
18	21096274	C	A	18	23516310	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.51932616810386E-4	0.07
18	21096274	C	G	18	23516310	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.91502306581365E-4	0.052
18	21096274	C	T	18	23516310	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.68148602687627E-5	0.008
18	21096275	C	A	18	23516311	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0314138180129954	0.114
18	21096275	C	G	18	23516311	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00820985707780846	0.182
18	21096275	C	T	18	23516311	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.41542726847328E-4	0.012
18	21096276	C	A	18	23516312	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00101453443429842	0.076
18	21096276	C	G	18	23516312	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.002663373214551	0.056
18	21096276	C	T	18	23516312	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.62180739490952E-5	0.0
18	21096277	T	A	18	23516313	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00237772455732211	0.086
18	21096277	T	C	18	23516313	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.25229613683281E-5	0.0
18	21096277	T	G	18	23516313	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0252566993164872	0.138
18	21096278	A	C	18	23516314	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.57932873863051E-5	0.0
18	21096278	A	G	18	23516314	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.81474896170976E-5	0.0
18	21096278	A	T	18	23516314	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.71182572594013E-5	0.0
18	21096279	A	C	18	23516315	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.31467940676198E-5	0.008
18	21096279	A	G	18	23516315	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.997694267850613	0.97
18	21096279	A	T	18	23516315	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.73245373123939E-5	0.008
18	21096280	A	C	18	23516316	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.91980300107779E-5	0.086
18	21096280	A	G	18	23516316	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.989070787109779	0.838
18	21096280	A	T	18	23516316	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.79958855220693E-4	0.046
18	21096281	C	A	18	23516317	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.969089693825815	0.736
18	21096281	C	G	18	23516317	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999606379199017	0.842
18	21096281	C	T	18	23516317	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00316827375801871	0.082
18	21096282	A	C	18	23516318	y	y	splicing	C18orf8(NM_001276342:exon5:c.406-2A>C;NM_013326:exon7:c.550-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.550-2A>C;ENST00000589215:exon6:c.465-2A>C;ENST00000590868:exon5:c.406-2A>C;ENST00000589860:exon5:c.408-2A>C;ENST00000590870:exon7:c.550-2A>C)	.	.	0.999639164250855	0.81
18	21096282	A	G	18	23516318	y	y	splicing	C18orf8(NM_001276342:exon5:c.406-2A>G;NM_013326:exon7:c.550-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.550-2A>G;ENST00000589215:exon6:c.465-2A>G;ENST00000590868:exon5:c.406-2A>G;ENST00000589860:exon5:c.408-2A>G;ENST00000590870:exon7:c.550-2A>G)	.	.	0.999639164250855	0.81
18	21096282	A	T	18	23516318	y	y	splicing	C18orf8(NM_001276342:exon5:c.406-2A>T;NM_013326:exon7:c.550-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.550-2A>T;ENST00000589215:exon6:c.465-2A>T;ENST00000590868:exon5:c.406-2A>T;ENST00000589860:exon5:c.408-2A>T;ENST00000590870:exon7:c.550-2A>T)	.	.	0.999700492436753	0.816
18	21096283	G	A	18	23516319	y	y	splicing	C18orf8(NM_001276342:exon5:c.406-1G>A;NM_013326:exon7:c.550-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.550-1G>A;ENST00000589215:exon6:c.465-1G>A;ENST00000590868:exon5:c.406-1G>A;ENST00000589860:exon5:c.408-1G>A;ENST00000590870:exon7:c.550-1G>A)	.	.	0.99995586615188	0.946
18	21096283	G	C	18	23516319	y	y	splicing	C18orf8(NM_001276342:exon5:c.406-1G>C;NM_013326:exon7:c.550-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.550-1G>C;ENST00000589215:exon6:c.465-1G>C;ENST00000590868:exon5:c.406-1G>C;ENST00000589860:exon5:c.408-1G>C;ENST00000590870:exon7:c.550-1G>C)	.	.	0.99995586615188	0.94
18	21096283	G	T	18	23516319	y	y	splicing	C18orf8(NM_001276342:exon5:c.406-1G>T;NM_013326:exon7:c.550-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.550-1G>T;ENST00000589215:exon6:c.465-1G>T;ENST00000590868:exon5:c.406-1G>T;ENST00000589860:exon5:c.408-1G>T;ENST00000590870:exon7:c.550-1G>T)	.	.	0.99995586615188	0.926
18	21096284	G	A	18	23516320	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.G550A:p.A184T;C18orf8:NM_001276342:exon5:c.G406A:p.A136T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.G550A:p.A184T;ENSG00000141452:ENST00000590870:exon7:c.G550A:p.A184T;ENSG00000141452:ENST00000590868:exon5:c.G406A:p.A136T;	0.175611408353761	0.29
18	21096284	G	C	18	23516320	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.G550C:p.A184P;C18orf8:NM_001276342:exon5:c.G406C:p.A136P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.G550C:p.A184P;ENSG00000141452:ENST00000590870:exon7:c.G550C:p.A184P;ENSG00000141452:ENST00000590868:exon5:c.G406C:p.A136P;	0.249001062668709	0.442
18	21096284	G	T	18	23516320	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.G550T:p.A184S;C18orf8:NM_001276342:exon5:c.G406T:p.A136S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.G550T:p.A184S;ENSG00000141452:ENST00000590870:exon7:c.G550T:p.A184S;ENSG00000141452:ENST00000590868:exon5:c.G406T:p.A136S;	0.303777012364859	0.536
18	21096285	C	A	18	23516321	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.C551A:p.A184D;C18orf8:NM_001276342:exon5:c.C407A:p.A136D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.C551A:p.A184D;ENSG00000141452:ENST00000590870:exon7:c.C551A:p.A184D;ENSG00000141452:ENST00000590868:exon5:c.C407A:p.A136D;	1.22177811442707E-4	0.008
18	21096285	C	G	18	23516321	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.C551G:p.A184G;C18orf8:NM_001276342:exon5:c.C407G:p.A136G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.C551G:p.A184G;ENSG00000141452:ENST00000590870:exon7:c.C551G:p.A184G;ENSG00000141452:ENST00000590868:exon5:c.C407G:p.A136G;	3.41410980974017E-5	0.016
18	21096285	C	T	18	23516321	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.C551T:p.A184V;C18orf8:NM_001276342:exon5:c.C407T:p.A136V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.C551T:p.A184V;ENSG00000141452:ENST00000590870:exon7:c.C551T:p.A184V;ENSG00000141452:ENST00000590868:exon5:c.C407T:p.A136V;	1.52801489353748E-4	0.002
18	21096385	C	A	18	23516421	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon7:c.C651A:p.T217T;C18orf8:NM_001276342:exon5:c.C507A:p.T169T;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.C651A:p.T217T;ENSG00000141452:ENST00000590870:exon7:c.C651A:p.T217T;ENSG00000141452:ENST00000590868:exon5:c.C507A:p.T169T;	1.75393956502866E-5	0.01
18	21096385	C	G	18	23516421	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon7:c.C651G:p.T217T;C18orf8:NM_001276342:exon5:c.C507G:p.T169T;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.C651G:p.T217T;ENSG00000141452:ENST00000590870:exon7:c.C651G:p.T217T;ENSG00000141452:ENST00000590868:exon5:c.C507G:p.T169T;	3.56787771676226E-5	0.03
18	21096385	C	T	18	23516421	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon7:c.C651T:p.T217T;C18orf8:NM_001276342:exon5:c.C507T:p.T169T;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.C651T:p.T217T;ENSG00000141452:ENST00000590870:exon7:c.C651T:p.T217T;ENSG00000141452:ENST00000590868:exon5:c.C507T:p.T169T;	0.199647625953405	0.488
18	21096386	A	C	18	23516422	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.A652C:p.I218L;C18orf8:NM_001276342:exon5:c.A508C:p.I170L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.A652C:p.I218L;ENSG00000141452:ENST00000590870:exon7:c.A652C:p.I218L;ENSG00000141452:ENST00000590868:exon5:c.A508C:p.I170L;	0.0937756231718111	0.438
18	21096386	A	G	18	23516422	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.A652G:p.I218V;C18orf8:NM_001276342:exon5:c.A508G:p.I170V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.A652G:p.I218V;ENSG00000141452:ENST00000590870:exon7:c.A652G:p.I218V;ENSG00000141452:ENST00000590868:exon5:c.A508G:p.I170V;	0.0593950668997628	0.476
18	21096386	A	T	18	23516422	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.A652T:p.I218L;C18orf8:NM_001276342:exon5:c.A508T:p.I170L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.A652T:p.I218L;ENSG00000141452:ENST00000590870:exon7:c.A652T:p.I218L;ENSG00000141452:ENST00000590868:exon5:c.A508T:p.I170L;	0.382184723763728	0.472
18	21096387	T	A	18	23516423	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.T653A:p.I218K;C18orf8:NM_001276342:exon5:c.T509A:p.I170K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.T653A:p.I218K;ENSG00000141452:ENST00000590870:exon7:c.T653A:p.I218K;ENSG00000141452:ENST00000590868:exon5:c.T509A:p.I170K;	0.544493407308663	0.542
18	21096387	T	C	18	23516423	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.T653C:p.I218T;C18orf8:NM_001276342:exon5:c.T509C:p.I170T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.T653C:p.I218T;ENSG00000141452:ENST00000590870:exon7:c.T653C:p.I218T;ENSG00000141452:ENST00000590868:exon5:c.T509C:p.I170T;	0.0447210416754211	0.368
18	21096387	T	G	18	23516423	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon7:c.T653G:p.I218R;C18orf8:NM_001276342:exon5:c.T509G:p.I170R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon7:c.T653G:p.I218R;ENSG00000141452:ENST00000590870:exon7:c.T653G:p.I218R;ENSG00000141452:ENST00000590868:exon5:c.T509G:p.I170R;	0.077697277813406	0.166
18	21096388	G	A	18	23516424	y	y	splicing	C18orf8(NM_001276342:exon5:c.509+1G>A;NM_013326:exon7:c.653+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.653+1G>A;ENST00000589215:exon6:c.568+1G>A;ENST00000590868:exon5:c.509+1G>A;ENST00000589860:exon5:c.511+1G>A;ENST00000590870:exon7:c.653+1G>A)	.	.	0.999946188727699	0.94
18	21096388	G	C	18	23516424	y	y	splicing	C18orf8(NM_001276342:exon5:c.509+1G>C;NM_013326:exon7:c.653+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.653+1G>C;ENST00000589215:exon6:c.568+1G>C;ENST00000590868:exon5:c.509+1G>C;ENST00000589860:exon5:c.511+1G>C;ENST00000590870:exon7:c.653+1G>C)	.	.	0.999946188727699	0.932
18	21096388	G	T	18	23516424	y	y	splicing	C18orf8(NM_001276342:exon5:c.509+1G>T;NM_013326:exon7:c.653+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.653+1G>T;ENST00000589215:exon6:c.568+1G>T;ENST00000590868:exon5:c.509+1G>T;ENST00000589860:exon5:c.511+1G>T;ENST00000590870:exon7:c.653+1G>T)	.	.	0.999946188727699	0.938
18	21096389	T	A	18	23516425	y	y	splicing	C18orf8(NM_001276342:exon5:c.509+2T>A;NM_013326:exon7:c.653+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.653+2T>A;ENST00000589215:exon6:c.568+2T>A;ENST00000590868:exon5:c.509+2T>A;ENST00000589860:exon5:c.511+2T>A;ENST00000590870:exon7:c.653+2T>A)	.	.	0.999965414246739	0.928
18	21096389	T	C	18	23516425	y	y	splicing	C18orf8(NM_001276342:exon5:c.509+2T>C;NM_013326:exon7:c.653+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.653+2T>C;ENST00000589215:exon6:c.568+2T>C;ENST00000590868:exon5:c.509+2T>C;ENST00000589860:exon5:c.511+2T>C;ENST00000590870:exon7:c.653+2T>C)	.	.	0.981807176672432	0.602
18	21096389	T	G	18	23516425	y	y	splicing	C18orf8(NM_001276342:exon5:c.509+2T>G;NM_013326:exon7:c.653+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon7:c.653+2T>G;ENST00000589215:exon6:c.568+2T>G;ENST00000590868:exon5:c.509+2T>G;ENST00000589860:exon5:c.511+2T>G;ENST00000590870:exon7:c.653+2T>G)	.	.	0.999981535500952	0.934
18	21096390	A	C	18	23516426	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999928839765702	0.944
18	21096390	A	G	18	23516426	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99779694700972	0.758
18	21096390	A	T	18	23516426	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999964789532064	0.958
18	21096391	T	A	18	23516427	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.15961728527723E-5	0.024
18	21096391	T	C	18	23516427	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.25266196910718E-5	0.004
18	21096391	T	G	18	23516427	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.9948608696083E-4	0.01
18	21096392	G	A	18	23516428	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999963798101674	0.97
18	21096392	G	C	18	23516428	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999916021776689	0.928
18	21096392	G	T	18	23516428	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999979576468003	0.99
18	21096393	T	A	18	23516429	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.979270339344526	0.714
18	21096393	T	C	18	23516429	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.978510777793265	0.694
18	21096393	T	G	18	23516429	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.523592402398773	0.578
18	21096394	C	A	18	23516430	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.13070713883436E-5	0.0
18	21096394	C	G	18	23516430	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.47147834806558E-4	0.04
18	21096394	C	T	18	23516430	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.38011396172229E-4	0.01
18	21096395	C	A	18	23516431	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.73422629334379E-4	0.046
18	21096395	C	G	18	23516431	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00101669632086505	0.038
18	21096395	C	T	18	23516431	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.30178398569806E-4	0.0
18	21098842	T	A	18	23518878	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.933881416725471	0.754
18	21098842	T	C	18	23518878	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0147738166746317	0.146
18	21098842	T	G	18	23518878	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.217424889506981	0.548
18	21098843	T	A	18	23518879	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.868134627565935	0.42
18	21098843	T	C	18	23518879	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0020911848609155	0.14
18	21098843	T	G	18	23518879	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.178562893752083	0.544
18	21098844	C	A	18	23518880	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00374514490110824	0.124
18	21098844	C	G	18	23518880	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00163610270580746	0.06
18	21098844	C	T	18	23518880	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.18011193039958E-4	0.012
18	21098845	C	A	18	23518881	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00187093997416768	0.036
18	21098845	C	G	18	23518881	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00104367729344962	0.06
18	21098845	C	T	18	23518881	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.06481237244302E-5	0.0
18	21098846	C	A	18	23518882	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00236746299137895	0.146
18	21098846	C	G	18	23518882	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00314891902149024	0.12
18	21098846	C	T	18	23518882	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.64633597619782E-5	0.0
18	21098847	T	A	18	23518883	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00418309313140682	0.128
18	21098847	T	C	18	23518883	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.06792928168067E-5	0.024
18	21098847	T	G	18	23518883	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0161294567891604	0.154
18	21098848	A	C	18	23518884	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.95048459408849E-5	0.0
18	21098848	A	G	18	23518884	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.78389654127837E-5	0.0
18	21098848	A	T	18	23518884	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.95048459408849E-5	0.008
18	21098849	A	C	18	23518885	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.67812768845801E-5	0.0
18	21098849	A	G	18	23518885	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.969082317618711	0.944
18	21098849	A	T	18	23518885	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.36289001853524E-5	0.048
18	21098850	T	A	18	23518886	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.86232442097511E-5	0.002
18	21098850	T	C	18	23518886	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.14747033374709E-5	0.01
18	21098850	T	G	18	23518886	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.931441441288628	0.722
18	21098851	T	A	18	23518887	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0168143721030258	0.314
18	21098851	T	C	18	23518887	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.84666678739301E-5	0.03
18	21098851	T	G	18	23518887	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.991498941352821	0.674
18	21098852	A	C	18	23518888	y	y	splicing	C18orf8(NM_001276342:exon6:c.510-2A>C;NM_013326:exon8:c.654-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.654-2A>C;ENST00000589215:exon7:c.569-2A>C;ENST00000590868:exon6:c.510-2A>C;ENST00000589860:exon6:c.512-2A>C;ENST00000590870:exon8:c.654-2A>C)	.	.	0.999991582404039	0.928
18	21098852	A	G	18	23518888	y	y	splicing	C18orf8(NM_001276342:exon6:c.510-2A>G;NM_013326:exon8:c.654-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.654-2A>G;ENST00000589215:exon7:c.569-2A>G;ENST00000590868:exon6:c.510-2A>G;ENST00000589860:exon6:c.512-2A>G;ENST00000590870:exon8:c.654-2A>G)	.	.	0.999991582404039	0.928
18	21098852	A	T	18	23518888	y	y	splicing	C18orf8(NM_001276342:exon6:c.510-2A>T;NM_013326:exon8:c.654-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.654-2A>T;ENST00000589215:exon7:c.569-2A>T;ENST00000590868:exon6:c.510-2A>T;ENST00000589860:exon6:c.512-2A>T;ENST00000590870:exon8:c.654-2A>T)	.	.	0.999993519952936	0.928
18	21098853	G	A	18	23518889	y	y	splicing	C18orf8(NM_001276342:exon6:c.510-1G>A;NM_013326:exon8:c.654-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.654-1G>A;ENST00000589215:exon7:c.569-1G>A;ENST00000590868:exon6:c.510-1G>A;ENST00000589860:exon6:c.512-1G>A;ENST00000590870:exon8:c.654-1G>A)	.	.	0.99994568797423	0.918
18	21098853	G	C	18	23518889	y	y	splicing	C18orf8(NM_001276342:exon6:c.510-1G>C;NM_013326:exon8:c.654-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.654-1G>C;ENST00000589215:exon7:c.569-1G>C;ENST00000590868:exon6:c.510-1G>C;ENST00000589860:exon6:c.512-1G>C;ENST00000590870:exon8:c.654-1G>C)	.	.	0.99994568797423	0.92
18	21098853	G	T	18	23518889	y	y	splicing	C18orf8(NM_001276342:exon6:c.510-1G>T;NM_013326:exon8:c.654-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.654-1G>T;ENST00000589215:exon7:c.569-1G>T;ENST00000590868:exon6:c.510-1G>T;ENST00000589860:exon6:c.512-1G>T;ENST00000590870:exon8:c.654-1G>T)	.	.	0.99994568797423	0.918
18	21098854	A	C	18	23518890	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon8:c.A654C:p.I218I;C18orf8:NM_001276342:exon6:c.A510C:p.I170I;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.A654C:p.I218I;ENSG00000141452:ENST00000590870:exon8:c.A654C:p.I218I;ENSG00000141452:ENST00000590868:exon6:c.A510C:p.I170I;	0.00202873061080119	0.132
18	21098854	A	G	18	23518890	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon8:c.A654G:p.I218M;C18orf8:NM_001276342:exon6:c.A510G:p.I170M;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.A654G:p.I218M;ENSG00000141452:ENST00000590870:exon8:c.A654G:p.I218M;ENSG00000141452:ENST00000590868:exon6:c.A510G:p.I170M;	0.00160721066734866	0.024
18	21098854	A	T	18	23518890	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon8:c.A654T:p.I218I;C18orf8:NM_001276342:exon6:c.A510T:p.I170I;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.A654T:p.I218I;ENSG00000141452:ENST00000590870:exon8:c.A654T:p.I218I;ENSG00000141452:ENST00000590868:exon6:c.A510T:p.I170I;	0.00417133808837579	0.09
18	21098855	T	A	18	23518891	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon8:c.T655A:p.Y219N;C18orf8:NM_001276342:exon6:c.T511A:p.Y171N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.T655A:p.Y219N;ENSG00000141452:ENST00000590870:exon8:c.T655A:p.Y219N;ENSG00000141452:ENST00000590868:exon6:c.T511A:p.Y171N;	0.690499467464109	0.322
18	21098855	T	C	18	23518891	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon8:c.T655C:p.Y219H;C18orf8:NM_001276342:exon6:c.T511C:p.Y171H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.T655C:p.Y219H;ENSG00000141452:ENST00000590870:exon8:c.T655C:p.Y219H;ENSG00000141452:ENST00000590868:exon6:c.T511C:p.Y171H;	0.598578481120332	0.33
18	21098855	T	G	18	23518891	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon8:c.T655G:p.Y219D;C18orf8:NM_001276342:exon6:c.T511G:p.Y171D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.T655G:p.Y219D;ENSG00000141452:ENST00000590870:exon8:c.T655G:p.Y219D;ENSG00000141452:ENST00000590868:exon6:c.T511G:p.Y171D;	0.621207825060842	0.332
18	21098941	A	C	18	23518977	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon8:c.A741C:p.P247P;C18orf8:NM_001276342:exon6:c.A597C:p.P199P;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.A741C:p.P247P;ENSG00000141452:ENST00000590870:exon8:c.A741C:p.P247P;ENSG00000141452:ENST00000590868:exon6:c.A597C:p.P199P;	0.00125338839580143	0.046
18	21098941	A	G	18	23518977	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon8:c.A741G:p.P247P;C18orf8:NM_001276342:exon6:c.A597G:p.P199P;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.A741G:p.P247P;ENSG00000141452:ENST00000590870:exon8:c.A741G:p.P247P;ENSG00000141452:ENST00000590868:exon6:c.A597G:p.P199P;	0.0410001090825272	0.158
18	21098941	A	T	18	23518977	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon8:c.A741T:p.P247P;C18orf8:NM_001276342:exon6:c.A597T:p.P199P;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.A741T:p.P247P;ENSG00000141452:ENST00000590870:exon8:c.A741T:p.P247P;ENSG00000141452:ENST00000590868:exon6:c.A597T:p.P199P;	0.512940641538899	0.584
18	21098942	C	A	18	23518978	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon8:c.C742A:p.R248R;C18orf8:NM_001276342:exon6:c.C598A:p.R200R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.C742A:p.R248R;ENSG00000141452:ENST00000590870:exon8:c.C742A:p.R248R;ENSG00000141452:ENST00000590868:exon6:c.C598A:p.R200R;	0.00285196263672177	0.164
18	21098942	C	G	18	23518978	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon8:c.C742G:p.R248G;C18orf8:NM_001276342:exon6:c.C598G:p.R200G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.C742G:p.R248G;ENSG00000141452:ENST00000590870:exon8:c.C742G:p.R248G;ENSG00000141452:ENST00000590868:exon6:c.C598G:p.R200G;	0.196053575766297	0.326
18	21098942	C	T	18	23518978	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon8:c.C742T:p.R248X;C18orf8:NM_001276342:exon6:c.C598T:p.R200X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000269221:exon8:c.C742T:p.R248X;ENSG00000141452:ENST00000590870:exon8:c.C742T:p.R248X;ENSG00000141452:ENST00000590868:exon6:c.C598T:p.R200X;	0.817492316471049	0.608
18	21098943	G	A	18	23518979	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon8:c.G743A:p.R248Q;C18orf8:NM_001276342:exon6:c.G599A:p.R200Q;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.G743A:p.R248Q;ENSG00000141452:ENST00000590870:exon8:c.G743A:p.R248Q;ENSG00000141452:ENST00000590868:exon6:c.G599A:p.R200Q;	0.999996242725839	1.0
18	21098943	G	C	18	23518979	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon8:c.G743C:p.R248P;C18orf8:NM_001276342:exon6:c.G599C:p.R200P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.G743C:p.R248P;ENSG00000141452:ENST00000590870:exon8:c.G743C:p.R248P;ENSG00000141452:ENST00000590868:exon6:c.G599C:p.R200P;	0.999996629515665	1.0
18	21098943	G	T	18	23518979	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon8:c.G743T:p.R248L;C18orf8:NM_001276342:exon6:c.G599T:p.R200L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon8:c.G743T:p.R248L;ENSG00000141452:ENST00000590870:exon8:c.G743T:p.R248L;ENSG00000141452:ENST00000590868:exon6:c.G599T:p.R200L;	0.999992617992245	1.0
18	21098944	G	A	18	23518980	y	y	splicing	C18orf8(NM_001276342:exon6:c.599+1G>A;NM_013326:exon8:c.743+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.743+1G>A;ENST00000589215:exon7:c.658+1G>A;ENST00000590868:exon6:c.599+1G>A;ENST00000589860:exon6:c.601+1G>A;ENST00000590870:exon8:c.743+1G>A)	.	.	0.999986741007567	0.932
18	21098944	G	C	18	23518980	y	y	splicing	C18orf8(NM_001276342:exon6:c.599+1G>C;NM_013326:exon8:c.743+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.743+1G>C;ENST00000589215:exon7:c.658+1G>C;ENST00000590868:exon6:c.599+1G>C;ENST00000589860:exon6:c.601+1G>C;ENST00000590870:exon8:c.743+1G>C)	.	.	0.999986741007567	0.932
18	21098944	G	T	18	23518980	y	y	splicing	C18orf8(NM_001276342:exon6:c.599+1G>T;NM_013326:exon8:c.743+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.743+1G>T;ENST00000589215:exon7:c.658+1G>T;ENST00000590868:exon6:c.599+1G>T;ENST00000589860:exon6:c.601+1G>T;ENST00000590870:exon8:c.743+1G>T)	.	.	0.999986741007567	0.932
18	21098945	T	A	18	23518981	y	y	splicing	C18orf8(NM_001276342:exon6:c.599+2T>A;NM_013326:exon8:c.743+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.743+2T>A;ENST00000589215:exon7:c.658+2T>A;ENST00000590868:exon6:c.599+2T>A;ENST00000589860:exon6:c.601+2T>A;ENST00000590870:exon8:c.743+2T>A)	.	.	0.999990503154465	0.926
18	21098945	T	C	18	23518981	y	y	splicing	C18orf8(NM_001276342:exon6:c.599+2T>C;NM_013326:exon8:c.743+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.743+2T>C;ENST00000589215:exon7:c.658+2T>C;ENST00000590868:exon6:c.599+2T>C;ENST00000589860:exon6:c.601+2T>C;ENST00000590870:exon8:c.743+2T>C)	.	.	0.998234512823911	0.606
18	21098945	T	G	18	23518981	y	y	splicing	C18orf8(NM_001276342:exon6:c.599+2T>G;NM_013326:exon8:c.743+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon8:c.743+2T>G;ENST00000589215:exon7:c.658+2T>G;ENST00000590868:exon6:c.599+2T>G;ENST00000589860:exon6:c.601+2T>G;ENST00000590870:exon8:c.743+2T>G)	.	.	0.999990503154465	0.924
18	21098946	A	C	18	23518982	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999903311359182	0.934
18	21098946	A	G	18	23518982	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.996270829422864	0.912
18	21098946	A	T	18	23518982	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999903311359182	0.946
18	21098947	G	A	18	23518983	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.89965735536445E-5	0.016
18	21098947	G	C	18	23518983	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.54633952643309E-5	0.042
18	21098947	G	T	18	23518983	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.78558809070074E-5	0.01
18	21098948	A	C	18	23518984	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.88133458522613E-5	0.032
18	21098948	A	G	18	23518984	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.84442949288858E-5	0.002
18	21098948	A	T	18	23518984	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.59609055556573E-4	0.064
18	21098949	T	A	18	23518985	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00161459109323643	0.222
18	21098949	T	C	18	23518985	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.03508949564283E-4	0.234
18	21098949	T	G	18	23518985	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00666232550938459	0.298
18	21098950	T	A	18	23518986	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.04900693216345E-6	0.002
18	21098950	T	C	18	23518986	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.1727629288968E-6	0.0
18	21098950	T	G	18	23518986	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.06341561599038E-6	0.0
18	21098951	T	A	18	23518987	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00146789021790247	0.012
18	21098951	T	C	18	23518987	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.57038893778252E-4	0.038
18	21098951	T	G	18	23518987	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00138047141826662	0.018
18	21099021	T	A	18	23519057	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00368410407646014	0.144
18	21099021	T	C	18	23519057	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.0440690225711E-5	0.0
18	21099021	T	G	18	23519057	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00284217298001732	0.142
18	21099022	C	A	18	23519058	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.25699006766501E-4	0.0
18	21099022	C	G	18	23519058	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.29083135751251E-4	0.004
18	21099022	C	T	18	23519058	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.49928645186824E-5	0.004
18	21099023	T	A	18	23519059	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.137080738097106	0.316
18	21099023	T	C	18	23519059	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00119421560706815	0.042
18	21099023	T	G	18	23519059	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0271129708153698	0.308
18	21099024	A	C	18	23519060	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.34999318636917E-6	0.0
18	21099024	A	G	18	23519060	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.07481227415505E-5	0.002
18	21099024	A	T	18	23519060	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.43099908483724E-5	0.0
18	21099025	T	A	18	23519061	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.33451308500833E-4	0.068
18	21099025	T	C	18	23519061	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.45845693794113E-5	0.0
18	21099025	T	G	18	23519061	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999952869859866	0.998
18	21099026	C	A	18	23519062	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00283733848006956	0.042
18	21099026	C	G	18	23519062	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00637880770052739	0.03
18	21099026	C	T	18	23519062	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.00989932938408E-4	0.0
18	21099027	C	A	18	23519063	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00863928168475732	0.104
18	21099027	C	G	18	23519063	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00691044772058272	0.13
18	21099027	C	T	18	23519063	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.4503727795375E-5	0.0
18	21099028	T	A	18	23519064	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.22060114326631E-4	0.04
18	21099028	T	C	18	23519064	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.19589316223328E-5	0.004
18	21099028	T	G	18	23519064	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.52541330520069E-4	0.07
18	21099029	A	C	18	23519065	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.37817091927198E-4	0.002
18	21099029	A	G	18	23519065	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.14748035644592E-4	0.002
18	21099029	A	T	18	23519065	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.44382671698826E-5	0.002
18	21099030	C	A	18	23519066	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.996650125311311	0.764
18	21099030	C	G	18	23519066	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999469757603062	0.964
18	21099030	C	T	18	23519066	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.032826980060223	0.214
18	21099031	A	C	18	23519067	y	y	splicing	C18orf8(NM_001276342:exon7:c.600-2A>C;NM_013326:exon9:c.744-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.744-2A>C;ENST00000589215:exon8:c.659-2A>C;ENST00000590868:exon7:c.600-2A>C;ENST00000589860:exon7:c.602-2A>C;ENST00000590870:exon9:c.744-2A>C)	.	.	0.999988307841649	0.92
18	21099031	A	G	18	23519067	y	y	splicing	C18orf8(NM_001276342:exon7:c.600-2A>G;NM_013326:exon9:c.744-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.744-2A>G;ENST00000589215:exon8:c.659-2A>G;ENST00000590868:exon7:c.600-2A>G;ENST00000589860:exon7:c.602-2A>G;ENST00000590870:exon9:c.744-2A>G)	.	.	0.999988307841649	0.92
18	21099031	A	T	18	23519067	y	y	splicing	C18orf8(NM_001276342:exon7:c.600-2A>T;NM_013326:exon9:c.744-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.744-2A>T;ENST00000589215:exon8:c.659-2A>T;ENST00000590868:exon7:c.600-2A>T;ENST00000589860:exon7:c.602-2A>T;ENST00000590870:exon9:c.744-2A>T)	.	.	0.999988307841649	0.92
18	21099032	G	A	18	23519068	y	y	splicing	C18orf8(NM_001276342:exon7:c.600-1G>A;NM_013326:exon9:c.744-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.744-1G>A;ENST00000589215:exon8:c.659-1G>A;ENST00000590868:exon7:c.600-1G>A;ENST00000589860:exon7:c.602-1G>A;ENST00000590870:exon9:c.744-1G>A)	.	.	0.999988247793601	0.926
18	21099032	G	C	18	23519068	y	y	splicing	C18orf8(NM_001276342:exon7:c.600-1G>C;NM_013326:exon9:c.744-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.744-1G>C;ENST00000589215:exon8:c.659-1G>C;ENST00000590868:exon7:c.600-1G>C;ENST00000589860:exon7:c.602-1G>C;ENST00000590870:exon9:c.744-1G>C)	.	.	0.999988247793601	0.926
18	21099032	G	T	18	23519068	y	y	splicing	C18orf8(NM_001276342:exon7:c.600-1G>T;NM_013326:exon9:c.744-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.744-1G>T;ENST00000589215:exon8:c.659-1G>T;ENST00000590868:exon7:c.600-1G>T;ENST00000589860:exon7:c.602-1G>T;ENST00000590870:exon9:c.744-1G>T)	.	.	0.999988247793601	0.926
18	21099033	A	C	18	23519069	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon9:c.A744C:p.R248R;C18orf8:NM_001276342:exon7:c.A600C:p.R200R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.A744C:p.R248R;ENSG00000141452:ENST00000590870:exon9:c.A744C:p.R248R;ENSG00000141452:ENST00000590868:exon7:c.A600C:p.R200R;	0.00128218426167741	0.044
18	21099033	A	G	18	23519069	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon9:c.A744G:p.R248R;C18orf8:NM_001276342:exon7:c.A600G:p.R200R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.A744G:p.R248R;ENSG00000141452:ENST00000590870:exon9:c.A744G:p.R248R;ENSG00000141452:ENST00000590868:exon7:c.A600G:p.R200R;	6.17535724867003E-4	0.004
18	21099033	A	T	18	23519069	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon9:c.A744T:p.R248R;C18orf8:NM_001276342:exon7:c.A600T:p.R200R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.A744T:p.R248R;ENSG00000141452:ENST00000590870:exon9:c.A744T:p.R248R;ENSG00000141452:ENST00000590868:exon7:c.A600T:p.R200R;	0.0060345031755817	0.046
18	21099034	G	A	18	23519070	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.G745A:p.E249K;C18orf8:NM_001276342:exon7:c.G601A:p.E201K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.G745A:p.E249K;ENSG00000141452:ENST00000590870:exon9:c.G745A:p.E249K;ENSG00000141452:ENST00000590868:exon7:c.G601A:p.E201K;	0.966342925880302	0.774
18	21099034	G	C	18	23519070	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.G745C:p.E249Q;C18orf8:NM_001276342:exon7:c.G601C:p.E201Q;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.G745C:p.E249Q;ENSG00000141452:ENST00000590870:exon9:c.G745C:p.E249Q;ENSG00000141452:ENST00000590868:exon7:c.G601C:p.E201Q;	0.945487781976989	0.804
18	21099034	G	T	18	23519070	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon9:c.G745T:p.E249X;C18orf8:NM_001276342:exon7:c.G601T:p.E201X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000269221:exon9:c.G745T:p.E249X;ENSG00000141452:ENST00000590870:exon9:c.G745T:p.E249X;ENSG00000141452:ENST00000590868:exon7:c.G601T:p.E201X;	0.977577366800532	0.866
18	21099136	G	A	18	23519172	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.G847A:p.E283K;C18orf8:NM_001276342:exon7:c.G703A:p.E235K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.G847A:p.E283K;ENSG00000141452:ENST00000590870:exon9:c.G847A:p.E283K;ENSG00000141452:ENST00000590868:exon7:c.G703A:p.E235K;	8.80065005720558E-4	0.018
18	21099136	G	C	18	23519172	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.G847C:p.E283Q;C18orf8:NM_001276342:exon7:c.G703C:p.E235Q;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.G847C:p.E283Q;ENSG00000141452:ENST00000590870:exon9:c.G847C:p.E283Q;ENSG00000141452:ENST00000590868:exon7:c.G703C:p.E235Q;	0.00171104157462657	0.024
18	21099136	G	T	18	23519172	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon9:c.G847T:p.E283X;C18orf8:NM_001276342:exon7:c.G703T:p.E235X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000269221:exon9:c.G847T:p.E283X;ENSG00000141452:ENST00000590870:exon9:c.G847T:p.E283X;ENSG00000141452:ENST00000590868:exon7:c.G703T:p.E235X;	0.994788082355567	0.696
18	21099137	A	C	18	23519173	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.A848C:p.E283A;C18orf8:NM_001276342:exon7:c.A704C:p.E235A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.A848C:p.E283A;ENSG00000141452:ENST00000590870:exon9:c.A848C:p.E283A;ENSG00000141452:ENST00000590868:exon7:c.A704C:p.E235A;	0.999034498919529	0.94
18	21099137	A	G	18	23519173	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.A848G:p.E283G;C18orf8:NM_001276342:exon7:c.A704G:p.E235G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.A848G:p.E283G;ENSG00000141452:ENST00000590870:exon9:c.A848G:p.E283G;ENSG00000141452:ENST00000590868:exon7:c.A704G:p.E235G;	0.999914258699555	0.98
18	21099137	A	T	18	23519173	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.A848T:p.E283V;C18orf8:NM_001276342:exon7:c.A704T:p.E235V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.A848T:p.E283V;ENSG00000141452:ENST00000590870:exon9:c.A848T:p.E283V;ENSG00000141452:ENST00000590868:exon7:c.A704T:p.E235V;	0.99996976730331	0.972
18	21099138	G	A	18	23519174	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon9:c.G849A:p.E283E;C18orf8:NM_001276342:exon7:c.G705A:p.E235E;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.G849A:p.E283E;ENSG00000141452:ENST00000590870:exon9:c.G849A:p.E283E;ENSG00000141452:ENST00000590868:exon7:c.G705A:p.E235E;	0.999986630831592	1.0
18	21099138	G	C	18	23519174	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.G849C:p.E283D;C18orf8:NM_001276342:exon7:c.G705C:p.E235D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.G849C:p.E283D;ENSG00000141452:ENST00000590870:exon9:c.G849C:p.E283D;ENSG00000141452:ENST00000590868:exon7:c.G705C:p.E235D;	0.999997012549539	1.0
18	21099138	G	T	18	23519174	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon9:c.G849T:p.E283D;C18orf8:NM_001276342:exon7:c.G705T:p.E235D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon9:c.G849T:p.E283D;ENSG00000141452:ENST00000590870:exon9:c.G849T:p.E283D;ENSG00000141452:ENST00000590868:exon7:c.G705T:p.E235D;	0.999994228525945	0.988
18	21099139	G	A	18	23519175	y	y	splicing	C18orf8(NM_001276342:exon7:c.705+1G>A;NM_013326:exon9:c.849+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.849+1G>A;ENST00000589215:exon8:c.764+1G>A;ENST00000590868:exon7:c.705+1G>A;ENST00000590870:exon9:c.849+1G>A)	.	.	0.999988247793601	0.928
18	21099139	G	C	18	23519175	y	y	splicing	C18orf8(NM_001276342:exon7:c.705+1G>C;NM_013326:exon9:c.849+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.849+1G>C;ENST00000589215:exon8:c.764+1G>C;ENST00000590868:exon7:c.705+1G>C;ENST00000590870:exon9:c.849+1G>C)	.	.	0.999988247793601	0.928
18	21099139	G	T	18	23519175	y	y	splicing	C18orf8(NM_001276342:exon7:c.705+1G>T;NM_013326:exon9:c.849+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.849+1G>T;ENST00000589215:exon8:c.764+1G>T;ENST00000590868:exon7:c.705+1G>T;ENST00000590870:exon9:c.849+1G>T)	.	.	0.999988247793601	0.928
18	21099140	T	A	18	23519176	y	y	splicing	C18orf8(NM_001276342:exon7:c.705+2T>A;NM_013326:exon9:c.849+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.849+2T>A;ENST00000589215:exon8:c.764+2T>A;ENST00000590868:exon7:c.705+2T>A;ENST00000590870:exon9:c.849+2T>A)	.	.	0.999993519952936	0.926
18	21099140	T	C	18	23519176	y	y	splicing	C18orf8(NM_001276342:exon7:c.705+2T>C;NM_013326:exon9:c.849+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.849+2T>C;ENST00000589215:exon8:c.764+2T>C;ENST00000590868:exon7:c.705+2T>C;ENST00000590870:exon9:c.849+2T>C)	.	.	0.993596150545159	0.578
18	21099140	T	G	18	23519176	y	y	splicing	C18orf8(NM_001276342:exon7:c.705+2T>G;NM_013326:exon9:c.849+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon9:c.849+2T>G;ENST00000589215:exon8:c.764+2T>G;ENST00000590868:exon7:c.705+2T>G;ENST00000590870:exon9:c.849+2T>G)	.	.	0.999993519952936	0.926
18	21099141	A	C	18	23519177	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999957817267331	0.888
18	21099141	A	G	18	23519177	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.998886584719313	0.734
18	21099141	A	T	18	23519177	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999969737626489	0.896
18	21099142	C	A	18	23519178	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.36733540869905E-5	0.146
18	21099142	C	G	18	23519178	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.90642363711974E-4	0.114
18	21099142	C	T	18	23519178	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.58442547550756E-4	0.05
18	21099143	A	C	18	23519179	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.5842154562041E-4	0.088
18	21099143	A	G	18	23519179	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.1051108314772E-4	0.014
18	21099143	A	T	18	23519179	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.50075790625215E-4	0.046
18	21099144	A	C	18	23519180	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0012568898984713	0.064
18	21099144	A	G	18	23519180	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00215291401755993	0.016
18	21099144	A	T	18	23519180	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00378936816902335	0.038
18	21099145	G	A	18	23519181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0012338591716885	0.008
18	21099145	G	C	18	23519181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00185739312388989	0.006
18	21099145	G	T	18	23519181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00306326777878409	0.084
18	21099146	C	A	18	23519182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.29577524508699E-5	0.006
18	21099146	C	G	18	23519182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.29405757193836E-5	0.008
18	21099146	C	T	18	23519182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.29577524508699E-5	0.006
18	21100154	T	A	18	23520190	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.6416435082198E-5	0.054
18	21100154	T	C	18	23520190	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.22705635072155E-5	0.0
18	21100154	T	G	18	23520190	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.04701137010281E-5	0.018
18	21100155	T	A	18	23520191	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.01778958652453E-4	0.048
18	21100155	T	C	18	23520191	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.66605878505498E-5	0.0
18	21100155	T	G	18	23520191	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.30761499070561E-4	0.04
18	21100156	T	A	18	23520192	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.73978777645826E-4	0.024
18	21100156	T	C	18	23520192	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.01464476492831E-4	0.0
18	21100156	T	G	18	23520192	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.34581948084702E-4	0.046
18	21100157	C	A	18	23520193	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.58712113424406E-4	0.018
18	21100157	C	G	18	23520193	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.70877850225043E-4	0.006
18	21100157	C	T	18	23520193	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.52230471580623E-5	0.004
18	21100158	C	A	18	23520194	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00189728574105237	0.126
18	21100158	C	G	18	23520194	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.45339153767147E-4	0.106
18	21100158	C	T	18	23520194	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.65213839267678E-5	0.006
18	21100159	C	A	18	23520195	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.05058889033537E-4	0.09
18	21100159	C	G	18	23520195	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.96618023835294E-5	0.104
18	21100159	C	T	18	23520195	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.47229030406425E-5	0.0
18	21100160	C	A	18	23520196	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00154322618407464	0.132
18	21100160	C	G	18	23520196	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00119763273327858	0.146
18	21100160	C	T	18	23520196	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.66752522892214E-5	0.018
18	21100161	C	A	18	23520197	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.23025532243791E-4	0.124
18	21100161	C	G	18	23520197	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.73702710986213E-4	0.146
18	21100161	C	T	18	23520197	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.09177294804563E-6	0.0
18	21100162	C	A	18	23520198	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.48106032320657E-5	0.0
18	21100162	C	G	18	23520198	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.21430244276677E-5	0.0
18	21100162	C	T	18	23520198	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.68540210464612E-5	0.008
18	21100163	C	A	18	23520199	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.107860299777264	0.258
18	21100163	C	G	18	23520199	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.969673099976909	0.656
18	21100163	C	T	18	23520199	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.35361166255004E-4	0.006
18	21100164	A	C	18	23520200	y	y	splicing	C18orf8(NM_001276342:exon8:c.706-2A>C;NM_013326:exon10:c.850-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.850-2A>C;ENST00000589215:exon9:c.765-2A>C;ENST00000590868:exon8:c.706-2A>C;ENST00000590870:exon10:c.850-2A>C)	.	.	0.99998491298609	0.89
18	21100164	A	G	18	23520200	y	y	splicing	C18orf8(NM_001276342:exon8:c.706-2A>G;NM_013326:exon10:c.850-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.850-2A>G;ENST00000589215:exon9:c.765-2A>G;ENST00000590868:exon8:c.706-2A>G;ENST00000590870:exon10:c.850-2A>G)	.	.	0.99998491298609	0.89
18	21100164	A	T	18	23520200	y	y	splicing	C18orf8(NM_001276342:exon8:c.706-2A>T;NM_013326:exon10:c.850-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.850-2A>T;ENST00000589215:exon9:c.765-2A>T;ENST00000590868:exon8:c.706-2A>T;ENST00000590870:exon10:c.850-2A>T)	.	.	0.99998491298609	0.892
18	21100165	G	A	18	23520201	y	y	splicing	C18orf8(NM_001276342:exon8:c.706-1G>A;NM_013326:exon10:c.850-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.850-1G>A;ENST00000589215:exon9:c.765-1G>A;ENST00000590868:exon8:c.706-1G>A;ENST00000590870:exon10:c.850-1G>A)	.	.	0.999963671976247	0.928
18	21100165	G	C	18	23520201	y	y	splicing	C18orf8(NM_001276342:exon8:c.706-1G>C;NM_013326:exon10:c.850-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.850-1G>C;ENST00000589215:exon9:c.765-1G>C;ENST00000590868:exon8:c.706-1G>C;ENST00000590870:exon10:c.850-1G>C)	.	.	0.999971317418422	0.904
18	21100165	G	T	18	23520201	y	y	splicing	C18orf8(NM_001276342:exon8:c.706-1G>T;NM_013326:exon10:c.850-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.850-1G>T;ENST00000589215:exon9:c.765-1G>T;ENST00000590868:exon8:c.706-1G>T;ENST00000590870:exon10:c.850-1G>T)	.	.	0.999951957019574	0.898
18	21100166	A	C	18	23520202	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.A850C:p.T284P;C18orf8:NM_001276342:exon8:c.A706C:p.T236P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.A850C:p.T284P;ENSG00000141452:ENST00000590870:exon10:c.A850C:p.T284P;ENSG00000141452:ENST00000590868:exon8:c.A706C:p.T236P;	0.222501789609845	0.46
18	21100166	A	G	18	23520202	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.A850G:p.T284A;C18orf8:NM_001276342:exon8:c.A706G:p.T236A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.A850G:p.T284A;ENSG00000141452:ENST00000590870:exon10:c.A850G:p.T284A;ENSG00000141452:ENST00000590868:exon8:c.A706G:p.T236A;	0.618845859198149	0.618
18	21100166	A	T	18	23520202	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.A850T:p.T284S;C18orf8:NM_001276342:exon8:c.A706T:p.T236S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.A850T:p.T284S;ENSG00000141452:ENST00000590870:exon10:c.A850T:p.T284S;ENSG00000141452:ENST00000590868:exon8:c.A706T:p.T236S;	0.187250691140146	0.422
18	21100167	C	A	18	23520203	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.C851A:p.T284K;C18orf8:NM_001276342:exon8:c.C707A:p.T236K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.C851A:p.T284K;ENSG00000141452:ENST00000590870:exon10:c.C851A:p.T284K;ENSG00000141452:ENST00000590868:exon8:c.C707A:p.T236K;	0.967333162267401	0.732
18	21100167	C	G	18	23520203	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.C851G:p.T284R;C18orf8:NM_001276342:exon8:c.C707G:p.T236R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.C851G:p.T284R;ENSG00000141452:ENST00000590870:exon10:c.C851G:p.T284R;ENSG00000141452:ENST00000590868:exon8:c.C707G:p.T236R;	0.0185278591272144	0.096
18	21100167	C	T	18	23520203	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.C851T:p.T284I;C18orf8:NM_001276342:exon8:c.C707T:p.T236I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.C851T:p.T284I;ENSG00000141452:ENST00000590870:exon10:c.C851T:p.T284I;ENSG00000141452:ENST00000590868:exon8:c.C707T:p.T236I;	0.952389047322714	0.676
18	21100275	C	A	18	23520311	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.C959A:p.T320K;C18orf8:NM_001276342:exon8:c.C815A:p.T272K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.C959A:p.T320K;ENSG00000141452:ENST00000590870:exon10:c.C959A:p.T320K;ENSG00000141452:ENST00000590868:exon8:c.C815A:p.T272K;	3.23110468895473E-4	0.072
18	21100275	C	G	18	23520311	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.C959G:p.T320R;C18orf8:NM_001276342:exon8:c.C815G:p.T272R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.C959G:p.T320R;ENSG00000141452:ENST00000590870:exon10:c.C959G:p.T320R;ENSG00000141452:ENST00000590868:exon8:c.C815G:p.T272R;	9.42470196259717E-4	0.086
18	21100275	C	T	18	23520311	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.C959T:p.T320I;C18orf8:NM_001276342:exon8:c.C815T:p.T272I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.C959T:p.T320I;ENSG00000141452:ENST00000590870:exon10:c.C959T:p.T320I;ENSG00000141452:ENST00000590868:exon8:c.C815T:p.T272I;	0.430929876136322	0.472
18	21100276	A	C	18	23520312	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon10:c.A960C:p.T320T;C18orf8:NM_001276342:exon8:c.A816C:p.T272T;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.A960C:p.T320T;ENSG00000141452:ENST00000590870:exon10:c.A960C:p.T320T;ENSG00000141452:ENST00000590868:exon8:c.A816C:p.T272T;	0.39370963408417	0.554
18	21100276	A	G	18	23520312	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon10:c.A960G:p.T320T;C18orf8:NM_001276342:exon8:c.A816G:p.T272T;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.A960G:p.T320T;ENSG00000141452:ENST00000590870:exon10:c.A960G:p.T320T;ENSG00000141452:ENST00000590868:exon8:c.A816G:p.T272T;	0.585117225702557	0.584
18	21100276	A	T	18	23520312	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon10:c.A960T:p.T320T;C18orf8:NM_001276342:exon8:c.A816T:p.T272T;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.A960T:p.T320T;ENSG00000141452:ENST00000590870:exon10:c.A960T:p.T320T;ENSG00000141452:ENST00000590868:exon8:c.A816T:p.T272T;	0.817723502283625	0.572
18	21100277	G	A	18	23520313	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.G961A:p.G321S;C18orf8:NM_001276342:exon8:c.G817A:p.G273S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.G961A:p.G321S;ENSG00000141452:ENST00000590870:exon10:c.G961A:p.G321S;ENSG00000141452:ENST00000590868:exon8:c.G817A:p.G273S;	0.999989648663647	1.0
18	21100277	G	C	18	23520313	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.G961C:p.G321R;C18orf8:NM_001276342:exon8:c.G817C:p.G273R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.G961C:p.G321R;ENSG00000141452:ENST00000590870:exon10:c.G961C:p.G321R;ENSG00000141452:ENST00000590868:exon8:c.G817C:p.G273R;	0.999995566069353	1.0
18	21100277	G	T	18	23520313	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon10:c.G961T:p.G321C;C18orf8:NM_001276342:exon8:c.G817T:p.G273C;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon10:c.G961T:p.G321C;ENSG00000141452:ENST00000590870:exon10:c.G961T:p.G321C;ENSG00000141452:ENST00000590868:exon8:c.G817T:p.G273C;	0.999983026775107	0.994
18	21100278	G	A	18	23520314	y	y	splicing	C18orf8(NM_001276342:exon8:c.817+1G>A;NM_013326:exon10:c.961+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.961+1G>A;ENST00000589215:exon9:c.876+1G>A;ENST00000590868:exon8:c.817+1G>A;ENST00000590870:exon10:c.961+1G>A)	.	.	0.999937986302129	0.832
18	21100278	G	C	18	23520314	y	y	splicing	C18orf8(NM_001276342:exon8:c.817+1G>C;NM_013326:exon10:c.961+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.961+1G>C;ENST00000589215:exon9:c.876+1G>C;ENST00000590868:exon8:c.817+1G>C;ENST00000590870:exon10:c.961+1G>C)	.	.	0.999938908173131	0.816
18	21100278	G	T	18	23520314	y	y	splicing	C18orf8(NM_001276342:exon8:c.817+1G>T;NM_013326:exon10:c.961+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.961+1G>T;ENST00000589215:exon9:c.876+1G>T;ENST00000590868:exon8:c.817+1G>T;ENST00000590870:exon10:c.961+1G>T)	.	.	0.999937986302129	0.818
18	21100279	T	A	18	23520315	y	y	splicing	C18orf8(NM_001276342:exon8:c.817+2T>A;NM_013326:exon10:c.961+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.961+2T>A;ENST00000589215:exon9:c.876+2T>A;ENST00000590868:exon8:c.817+2T>A;ENST00000590870:exon10:c.961+2T>A)	.	.	0.998810843109407	0.686
18	21100279	T	C	18	23520315	y	y	splicing	C18orf8(NM_001276342:exon8:c.817+2T>C;NM_013326:exon10:c.961+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.961+2T>C;ENST00000589215:exon9:c.876+2T>C;ENST00000590868:exon8:c.817+2T>C;ENST00000590870:exon10:c.961+2T>C)	.	.	0.787634426699188	0.498
18	21100279	T	G	18	23520315	y	y	splicing	C18orf8(NM_001276342:exon8:c.817+2T>G;NM_013326:exon10:c.961+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon10:c.961+2T>G;ENST00000589215:exon9:c.876+2T>G;ENST00000590868:exon8:c.817+2T>G;ENST00000590870:exon10:c.961+2T>G)	.	.	0.998546023726818	0.652
18	21100280	A	C	18	23520316	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99689763649179	0.704
18	21100280	A	G	18	23520316	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.599815613344634	0.614
18	21100280	A	T	18	23520316	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99909438635415	0.646
18	21100281	A	C	18	23520317	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.125954791915445	0.434
18	21100281	A	G	18	23520317	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.665428225080155	0.54
18	21100281	A	T	18	23520317	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.28254423597501	0.476
18	21100282	C	A	18	23520318	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.91155350471401E-5	0.004
18	21100282	C	G	18	23520318	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.56740565526104E-5	0.016
18	21100282	C	T	18	23520318	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.19697576151378E-5	0.0
18	21100283	A	C	18	23520319	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.18814129487927E-5	0.026
18	21100283	A	G	18	23520319	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.00875353483525E-5	0.0
18	21100283	A	T	18	23520319	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.4520730754128E-5	0.0
18	21100284	C	A	18	23520320	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.26439848099155E-5	0.0
18	21100284	C	G	18	23520320	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.66078252576097E-5	0.0
18	21100284	C	T	18	23520320	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.78760129349973E-5	0.002
18	21100285	G	A	18	23520321	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.14559567731368E-5	0.0
18	21100285	G	C	18	23520321	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.77117627458057E-5	0.002
18	21100285	G	T	18	23520321	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.14559567731368E-5	0.0
18	21102869	G	A	18	23522905	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000590723:exon2:c.C165T:p.G55G;	3.29276528558917E-5	0.0
18	21102869	G	C	18	23522905	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000590723:exon2:c.C165G:p.G55G;	4.40316979844049E-5	0.008
18	21102869	G	T	18	23522905	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000590723:exon2:c.C165A:p.G55G;	4.40316979844049E-5	0.022
18	21102870	C	A	18	23522906	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon2:c.G164T:p.G55V;	6.54291542054858E-4	0.01
18	21102870	C	G	18	23522906	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon2:c.G164C:p.G55A;	3.60081151915995E-4	0.006
18	21102870	C	T	18	23522906	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon2:c.G164A:p.G55D;	6.54291542054858E-4	0.004
18	21102871	C	A	18	23522907	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000590723:exon3:c.164-1G>T)	.	.	1.67406935090243E-5	0.0
18	21102871	C	G	18	23522907	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000590723:exon3:c.164-1G>C)	.	.	1.67406935090243E-5	0.0
18	21102871	C	T	18	23522907	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000590723:exon3:c.164-1G>A)	.	.	1.67406935090243E-5	0.0
18	21102872	T	A	18	23522908	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000590723:exon3:c.164-2A>T)	.	.	6.21978182991299E-5	0.002
18	21102872	T	C	18	23522908	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000590723:exon3:c.164-2A>G)	.	.	3.42206730061288E-5	0.002
18	21102872	T	G	18	23522908	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000590723:exon3:c.164-2A>C)	.	.	3.42206730061288E-5	0.002
18	21102873	G	A	18	23522909	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.78864525412067E-5	0.002
18	21102873	G	C	18	23522909	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.45277156108894E-5	0.002
18	21102873	G	T	18	23522909	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.45277156108894E-5	0.002
18	21102874	T	A	18	23522910	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.67864951622834E-4	0.004
18	21102874	T	C	18	23522910	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.54291542054858E-4	0.006
18	21102874	T	G	18	23522910	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.54291542054858E-4	0.006
18	21102875	T	A	18	23522911	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.67864951622834E-4	0.004
18	21102875	T	C	18	23522911	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.54291542054858E-4	0.006
18	21102875	T	G	18	23522911	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.54291542054858E-4	0.006
18	21102876	G	A	18	23522912	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.01160173408201E-4	0.012
18	21102876	G	C	18	23522912	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.96532199348666E-5	0.0
18	21102876	G	T	18	23522912	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.89925739660516E-5	0.018
18	21102877	A	C	18	23522913	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.20639154229398E-5	0.002
18	21102877	A	G	18	23522913	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.20639154229398E-5	0.002
18	21102877	A	T	18	23522913	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.82779041686858E-5	0.002
18	21102878	G	A	18	23522914	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.08739841361144E-4	0.01
18	21102878	G	C	18	23522914	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.69884688945688E-4	0.006
18	21102878	G	T	18	23522914	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.69884688945688E-4	0.008
18	21102879	A	C	18	23522915	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.8607438459496E-5	0.002
18	21102879	A	G	18	23522915	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.8607438459496E-5	0.002
18	21102879	A	T	18	23522915	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.8607438459496E-5	0.002
18	21102880	A	C	18	23522916	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.42005417025298E-5	0.0
18	21102880	A	G	18	23522916	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.42005417025298E-5	0.0
18	21102880	A	T	18	23522916	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.19348260541807E-5	0.04
18	21102881	A	C	18	23522917	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.33930376896499E-5	0.004
18	21102881	A	G	18	23522917	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.33930376896499E-5	0.004
18	21102881	A	T	18	23522917	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.25762508039554E-5	0.004
18	21102882	G	A	18	23522918	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.8042999492716E-5	0.0
18	21102882	G	C	18	23522918	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.8042999492716E-5	0.01
18	21102882	G	T	18	23522918	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.8042999492716E-5	0.0
18	21104082	C	A	18	23524118	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.8977378671488E-4	0.018
18	21104082	C	G	18	23524118	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.06001185748696E-4	0.018
18	21104082	C	T	18	23524118	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.62330304773054E-5	0.0
18	21104083	T	A	18	23524119	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.665208933007047	0.62
18	21104083	T	C	18	23524119	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0011786182680148	0.154
18	21104083	T	G	18	23524119	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.178057047888369	0.528
18	21104084	C	A	18	23524120	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00341625731299956	0.078
18	21104084	C	G	18	23524120	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00352937876027492	0.098
18	21104084	C	T	18	23524120	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.19463701836112E-4	0.004
18	21104085	A	C	18	23524121	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.48751148264268E-5	0.02
18	21104085	A	G	18	23524121	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.91542874323956E-4	0.046
18	21104085	A	T	18	23524121	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.93738561820704E-5	0.028
18	21104086	A	C	18	23524122	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.85300991104717E-5	0.006
18	21104086	A	G	18	23524122	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.997609949090504	0.852
18	21104086	A	T	18	23524122	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.67304073320001E-5	0.006
18	21104087	T	A	18	23524123	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.33205153374658	0.436
18	21104087	T	C	18	23524123	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.55138711922599E-4	0.116
18	21104087	T	G	18	23524123	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999930605968857	0.97
18	21104088	T	A	18	23524124	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0210196958903061	0.384
18	21104088	T	C	18	23524124	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.96388392514862E-5	0.008
18	21104088	T	G	18	23524124	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00585990137323243	0.452
18	21104089	T	A	18	23524125	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999808852373847	0.934
18	21104089	T	C	18	23524125	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00571630303623597	0.048
18	21104089	T	G	18	23524125	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.905597046547544	0.672
18	21104090	G	A	18	23524126	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0109504069547764	0.036
18	21104090	G	C	18	23524126	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00579181365372223	0.026
18	21104090	G	T	18	23524126	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0108855581635998	0.046
18	21104091	T	A	18	23524127	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00157523050152487	0.152
18	21104091	T	C	18	23524127	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.81905101709725E-5	0.006
18	21104091	T	G	18	23524127	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99078574898007	0.676
18	21104092	A	C	18	23524128	y	y	splicing	C18orf8(NM_001276342:exon9:c.818-2A>C;NM_013326:exon11:c.962-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.962-2A>C;ENST00000589215:exon10:c.877-2A>C;ENST00000590868:exon9:c.818-2A>C;ENST00000590870:exon11:c.962-2A>C)	.	.	0.999988247793601	0.928
18	21104092	A	G	18	23524128	y	y	splicing	C18orf8(NM_001276342:exon9:c.818-2A>G;NM_013326:exon11:c.962-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.962-2A>G;ENST00000589215:exon10:c.877-2A>G;ENST00000590868:exon9:c.818-2A>G;ENST00000590870:exon11:c.962-2A>G)	.	.	0.999988247793601	0.928
18	21104092	A	T	18	23524128	y	y	splicing	C18orf8(NM_001276342:exon9:c.818-2A>T;NM_013326:exon11:c.962-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.962-2A>T;ENST00000589215:exon10:c.877-2A>T;ENST00000590868:exon9:c.818-2A>T;ENST00000590870:exon11:c.962-2A>T)	.	.	0.999988247793601	0.928
18	21104093	G	A	18	23524129	y	y	splicing	C18orf8(NM_001276342:exon9:c.818-1G>A;NM_013326:exon11:c.962-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.962-1G>A;ENST00000589215:exon10:c.877-1G>A;ENST00000590868:exon9:c.818-1G>A;ENST00000590870:exon11:c.962-1G>A)	.	.	0.999981760802075	0.938
18	21104093	G	C	18	23524129	y	y	splicing	C18orf8(NM_001276342:exon9:c.818-1G>C;NM_013326:exon11:c.962-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.962-1G>C;ENST00000589215:exon10:c.877-1G>C;ENST00000590868:exon9:c.818-1G>C;ENST00000590870:exon11:c.962-1G>C)	.	.	0.999981760802075	0.938
18	21104093	G	T	18	23524129	y	y	splicing	C18orf8(NM_001276342:exon9:c.818-1G>T;NM_013326:exon11:c.962-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.962-1G>T;ENST00000589215:exon10:c.877-1G>T;ENST00000590868:exon9:c.818-1G>T;ENST00000590870:exon11:c.962-1G>T)	.	.	0.999981760802075	0.938
18	21104094	G	A	18	23524130	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.G962A:p.G321D;C18orf8:NM_001276342:exon9:c.G818A:p.G273D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.G962A:p.G321D;ENSG00000141452:ENST00000590870:exon11:c.G962A:p.G321D;ENSG00000141452:ENST00000590868:exon9:c.G818A:p.G273D;	0.998666524306006	0.89
18	21104094	G	C	18	23524130	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.G962C:p.G321A;C18orf8:NM_001276342:exon9:c.G818C:p.G273A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.G962C:p.G321A;ENSG00000141452:ENST00000590870:exon11:c.G962C:p.G321A;ENSG00000141452:ENST00000590868:exon9:c.G818C:p.G273A;	0.999738076353302	0.966
18	21104094	G	T	18	23524130	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.G962T:p.G321V;C18orf8:NM_001276342:exon9:c.G818T:p.G273V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.G962T:p.G321V;ENSG00000141452:ENST00000590870:exon11:c.G962T:p.G321V;ENSG00000141452:ENST00000590868:exon9:c.G818T:p.G273V;	0.999863131867478	0.99
18	21104095	T	A	18	23524131	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon11:c.T963A:p.G321G;C18orf8:NM_001276342:exon9:c.T819A:p.G273G;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T963A:p.G321G;ENSG00000141452:ENST00000590870:exon11:c.T963A:p.G321G;ENSG00000141452:ENST00000590868:exon9:c.T819A:p.G273G;	0.0226625373922667	0.122
18	21104095	T	C	18	23524131	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon11:c.T963C:p.G321G;C18orf8:NM_001276342:exon9:c.T819C:p.G273G;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T963C:p.G321G;ENSG00000141452:ENST00000590870:exon11:c.T963C:p.G321G;ENSG00000141452:ENST00000590868:exon9:c.T819C:p.G273G;	0.0176638979565956	0.108
18	21104095	T	G	18	23524131	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon11:c.T963G:p.G321G;C18orf8:NM_001276342:exon9:c.T819G:p.G273G;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T963G:p.G321G;ENSG00000141452:ENST00000590870:exon11:c.T963G:p.G321G;ENSG00000141452:ENST00000590868:exon9:c.T819G:p.G273G;	0.0459686315558159	0.138
18	21104136	T	A	18	23524172	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.T1004A:p.L335H;C18orf8:NM_001276342:exon9:c.T860A:p.L287H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T1004A:p.L335H;ENSG00000141452:ENST00000590868:exon9:c.T860A:p.L287H;	0.629530139910654	.
18	21104136	T	C	18	23524172	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.T1004C:p.L335P;C18orf8:NM_001276342:exon9:c.T860C:p.L287P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T1004C:p.L335P;ENSG00000141452:ENST00000590868:exon9:c.T860C:p.L287P;	0.594801595967814	.
18	21104136	T	G	18	23524172	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.T1004G:p.L335R;C18orf8:NM_001276342:exon9:c.T860G:p.L287R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T1004G:p.L335R;ENSG00000141452:ENST00000590868:exon9:c.T860G:p.L287R;	0.602346683947134	.
18	21104137	C	A	18	23524173	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon11:c.C1005A:p.L335L;C18orf8:NM_001276342:exon9:c.C861A:p.L287L;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.C1005A:p.L335L;ENSG00000141452:ENST00000590868:exon9:c.C861A:p.L287L;	4.58766203682097E-4	.
18	21104137	C	G	18	23524173	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon11:c.C1005G:p.L335L;C18orf8:NM_001276342:exon9:c.C861G:p.L287L;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.C1005G:p.L335L;ENSG00000141452:ENST00000590868:exon9:c.C861G:p.L287L;	6.18851083352558E-4	.
18	21104137	C	T	18	23524173	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon11:c.C1005T:p.L335L;C18orf8:NM_001276342:exon9:c.C861T:p.L287L;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.C1005T:p.L335L;ENSG00000141452:ENST00000590868:exon9:c.C861T:p.L287L;	0.00808795289136392	.
18	21104138	T	A	18	23524174	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.T1006A:p.Y336N;C18orf8:NM_001276342:exon9:c.T862A:p.Y288N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T1006A:p.Y336N;ENSG00000141452:ENST00000590868:exon9:c.T862A:p.Y288N;	0.73931543369709	.
18	21104138	T	C	18	23524174	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.T1006C:p.Y336H;C18orf8:NM_001276342:exon9:c.T862C:p.Y288H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T1006C:p.Y336H;ENSG00000141452:ENST00000590868:exon9:c.T862C:p.Y288H;	0.731965501235498	.
18	21104138	T	G	18	23524174	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon11:c.T1006G:p.Y336D;C18orf8:NM_001276342:exon9:c.T862G:p.Y288D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon11:c.T1006G:p.Y336D;ENSG00000141452:ENST00000590868:exon9:c.T862G:p.Y288D;	0.370209117075701	.
18	21104139	G	A	18	23524175	y	y	splicing	C18orf8(NM_001276342:exon9:c.862+1G>A;NM_013326:exon11:c.1006+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.1006+1G>A;ENST00000589215:exon10:c.921+1G>A;ENST00000590868:exon9:c.862+1G>A)	.	.	0.999971817005805	.
18	21104139	G	C	18	23524175	y	y	splicing	C18orf8(NM_001276342:exon9:c.862+1G>C;NM_013326:exon11:c.1006+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.1006+1G>C;ENST00000589215:exon10:c.921+1G>C;ENST00000590868:exon9:c.862+1G>C)	.	.	0.999971817005805	.
18	21104139	G	T	18	23524175	y	y	splicing	C18orf8(NM_001276342:exon9:c.862+1G>T;NM_013326:exon11:c.1006+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.1006+1G>T;ENST00000589215:exon10:c.921+1G>T;ENST00000590868:exon9:c.862+1G>T)	.	.	0.999971817005805	.
18	21104140	T	A	18	23524176	y	y	splicing	C18orf8(NM_001276342:exon9:c.862+2T>A;NM_013326:exon11:c.1006+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.1006+2T>A;ENST00000589215:exon10:c.921+2T>A;ENST00000590868:exon9:c.862+2T>A)	.	.	0.999914511980801	.
18	21104140	T	C	18	23524176	y	y	splicing	C18orf8(NM_001276342:exon9:c.862+2T>C;NM_013326:exon11:c.1006+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.1006+2T>C;ENST00000589215:exon10:c.921+2T>C;ENST00000590868:exon9:c.862+2T>C)	.	.	0.999158754185158	.
18	21104140	T	G	18	23524176	y	y	splicing	C18orf8(NM_001276342:exon9:c.862+2T>G;NM_013326:exon11:c.1006+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon11:c.1006+2T>G;ENST00000589215:exon10:c.921+2T>G;ENST00000590868:exon9:c.862+2T>G)	.	.	0.999914511980801	.
18	21104141	A	C	18	23524177	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999860270236986	.
18	21104141	A	G	18	23524177	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.996316346278411	.
18	21104141	A	T	18	23524177	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999840917163955	.
18	21104142	T	A	18	23524178	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.100276271936239	.
18	21104142	T	C	18	23524178	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.680379376140147	.
18	21104142	T	G	18	23524178	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.193478074717086	.
18	21104143	C	A	18	23524179	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.747190172417598	.
18	21104143	C	G	18	23524179	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.195968188963944	.
18	21104143	C	T	18	23524179	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.94085511061663	.
18	21104144	C	A	18	23524180	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0117586733979519	.
18	21104144	C	G	18	23524180	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00291806470187001	.
18	21104144	C	T	18	23524180	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00938472601649699	.
18	21104145	T	A	18	23524181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.065017760729693	.
18	21104145	T	C	18	23524181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0160917635317071	.
18	21104145	T	G	18	23524181	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.013387032807583	.
18	21104146	T	A	18	23524182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.468122112141062	.
18	21104146	T	C	18	23524182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.292990907205026	.
18	21104146	T	G	18	23524182	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.292990907205026	.
18	21104362	T	A	18	23524398	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.43496102469671E-4	.
18	21104362	T	C	18	23524398	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.43496102469671E-4	.
18	21104362	T	G	18	23524398	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.43496102469671E-4	.
18	21104363	T	A	18	23524399	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00435788658728161	.
18	21104363	T	C	18	23524399	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00342328035117698	.
18	21104363	T	G	18	23524399	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00342328035117698	.
18	21104364	C	A	18	23524400	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.81848263287476E-4	.
18	21104364	C	G	18	23524400	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.81848263287476E-4	.
18	21104364	C	T	18	23524400	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.12934478723578E-4	.
18	21104365	C	A	18	23524401	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.43816901153874E-4	.
18	21104365	C	G	18	23524401	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.43816901153874E-4	.
18	21104365	C	T	18	23524401	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.76809418742675E-4	.
18	21104366	T	A	18	23524402	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00343733236861472	.
18	21104366	T	C	18	23524402	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00179725913924436	.
18	21104366	T	G	18	23524402	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00179725913924436	.
18	21104367	G	A	18	23524403	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0250864045570377	.
18	21104367	G	C	18	23524403	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0219401404839593	.
18	21104367	G	T	18	23524403	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0219401404839593	.
18	21104368	G	A	18	23524404	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00129510654574741	.
18	21104368	G	C	18	23524404	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.74982969890982E-4	.
18	21104368	G	T	18	23524404	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.74982969890982E-4	.
18	21104369	T	A	18	23524405	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0010097017427629	.
18	21104369	T	C	18	23524405	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0010097017427629	.
18	21104369	T	G	18	23524405	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0010097017427629	.
18	21104370	T	A	18	23524406	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.33911939623909E-4	.
18	21104370	T	C	18	23524406	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.42571142382787E-4	.
18	21104370	T	G	18	23524406	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.02251708237268E-4	.
18	21104371	T	A	18	23524407	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.456898684390023	.
18	21104371	T	C	18	23524407	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.456898684390023	.
18	21104371	T	G	18	23524407	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.456898684390023	.
18	21104372	A	C	18	23524408	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000590870:exon12:c.991-2A>C)	.	.	0.027097926977523	.
18	21104372	A	G	18	23524408	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000590870:exon12:c.991-2A>G)	.	.	0.027097926977523	.
18	21104372	A	T	18	23524408	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000590870:exon12:c.991-2A>T)	.	.	0.027097926977523	.
18	21104373	G	A	18	23524409	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000590870:exon12:c.991-1G>A)	.	.	0.00120366976137329	.
18	21104373	G	C	18	23524409	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000590870:exon12:c.991-1G>C)	.	.	0.00120366976137329	.
18	21104373	G	T	18	23524409	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141452(ENST00000590870:exon12:c.991-1G>T)	.	.	0.00120366976137329	.
18	21104374	A	C	18	23524410	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000590870:exon12:c.A991C:p.N331H;	0.00110431772771788	.
18	21104374	A	G	18	23524410	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000590870:exon12:c.A991G:p.N331D;	0.00110431772771788	.
18	21104374	A	T	18	23524410	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000590870:exon12:c.A991T:p.N331Y;	0.00110431772771788	.
18	21104375	A	C	18	23524411	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000590870:exon12:c.A992C:p.N331T;	6.60906009640531E-4	.
18	21104375	A	G	18	23524411	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000590870:exon12:c.A992G:p.N331S;	6.60906009640531E-4	.
18	21104375	A	T	18	23524411	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000590870:exon12:c.A992T:p.N331I;	6.60906009640531E-4	.
18	21104444	A	C	18	23524480	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon12:c.A1058C:p.Q353P;C18orf8:NM_001276342:exon10:c.A914C:p.Q305P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.A1058C:p.Q353P;ENSG00000141452:ENST00000590868:exon10:c.A914C:p.Q305P;	0.483218339461027	0.506
18	21104444	A	G	18	23524480	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon12:c.A1058G:p.Q353R;C18orf8:NM_001276342:exon10:c.A914G:p.Q305R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.A1058G:p.Q353R;ENSG00000141452:ENST00000590868:exon10:c.A914G:p.Q305R;	0.0571381157884583	0.36
18	21104444	A	T	18	23524480	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon12:c.A1058T:p.Q353L;C18orf8:NM_001276342:exon10:c.A914T:p.Q305L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.A1058T:p.Q353L;ENSG00000141452:ENST00000590868:exon10:c.A914T:p.Q305L;	0.096233006483163	0.312
18	21104445	A	C	18	23524481	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon12:c.A1059C:p.Q353H;C18orf8:NM_001276342:exon10:c.A915C:p.Q305H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.A1059C:p.Q353H;ENSG00000141452:ENST00000590868:exon10:c.A915C:p.Q305H;	0.987248358631606	0.928
18	21104445	A	G	18	23524481	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon12:c.A1059G:p.Q353Q;C18orf8:NM_001276342:exon10:c.A915G:p.Q305Q;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.A1059G:p.Q353Q;ENSG00000141452:ENST00000590868:exon10:c.A915G:p.Q305Q;	0.893494491619816	0.748
18	21104445	A	T	18	23524481	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon12:c.A1059T:p.Q353H;C18orf8:NM_001276342:exon10:c.A915T:p.Q305H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.A1059T:p.Q353H;ENSG00000141452:ENST00000590868:exon10:c.A915T:p.Q305H;	0.999089483015568	0.964
18	21104446	G	A	18	23524482	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon12:c.G1060A:p.G354S;C18orf8:NM_001276342:exon10:c.G916A:p.G306S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.G1060A:p.G354S;ENSG00000141452:ENST00000590868:exon10:c.G916A:p.G306S;	0.99996167400514	0.854
18	21104446	G	C	18	23524482	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon12:c.G1060C:p.G354R;C18orf8:NM_001276342:exon10:c.G916C:p.G306R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.G1060C:p.G354R;ENSG00000141452:ENST00000590868:exon10:c.G916C:p.G306R;	0.999990047355622	0.992
18	21104446	G	T	18	23524482	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon12:c.G1060T:p.G354C;C18orf8:NM_001276342:exon10:c.G916T:p.G306C;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon12:c.G1060T:p.G354C;ENSG00000141452:ENST00000590868:exon10:c.G916T:p.G306C;	0.999975268858396	0.994
18	21104447	G	A	18	23524483	y	y	splicing	C18orf8(NM_001276342:exon10:c.916+1G>A;NM_013326:exon12:c.1060+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon12:c.1060+1G>A;ENST00000589215:exon11:c.975+1G>A;ENST00000590868:exon10:c.916+1G>A;ENST00000590870:exon12:c.1063+1G>A)	.	.	0.999986675681007	0.94
18	21104447	G	C	18	23524483	y	y	splicing	C18orf8(NM_001276342:exon10:c.916+1G>C;NM_013326:exon12:c.1060+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon12:c.1060+1G>C;ENST00000589215:exon11:c.975+1G>C;ENST00000590868:exon10:c.916+1G>C;ENST00000590870:exon12:c.1063+1G>C)	.	.	0.999986675681007	0.94
18	21104447	G	T	18	23524483	y	y	splicing	C18orf8(NM_001276342:exon10:c.916+1G>T;NM_013326:exon12:c.1060+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon12:c.1060+1G>T;ENST00000589215:exon11:c.975+1G>T;ENST00000590868:exon10:c.916+1G>T;ENST00000590870:exon12:c.1063+1G>T)	.	.	0.999986675681007	0.94
18	21104448	T	A	18	23524484	y	y	splicing	C18orf8(NM_001276342:exon10:c.916+2T>A;NM_013326:exon12:c.1060+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon12:c.1060+2T>A;ENST00000589215:exon11:c.975+2T>A;ENST00000590868:exon10:c.916+2T>A;ENST00000590870:exon12:c.1063+2T>A)	.	.	0.999989917668626	0.928
18	21104448	T	C	18	23524484	y	y	splicing	C18orf8(NM_001276342:exon10:c.916+2T>C;NM_013326:exon12:c.1060+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon12:c.1060+2T>C;ENST00000589215:exon11:c.975+2T>C;ENST00000590868:exon10:c.916+2T>C;ENST00000590870:exon12:c.1063+2T>C)	.	.	0.991007250132327	0.652
18	21104448	T	G	18	23524484	y	y	splicing	C18orf8(NM_001276342:exon10:c.916+2T>G;NM_013326:exon12:c.1060+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon12:c.1060+2T>G;ENST00000589215:exon11:c.975+2T>G;ENST00000590868:exon10:c.916+2T>G;ENST00000590870:exon12:c.1063+2T>G)	.	.	0.999989917668626	0.928
18	21104449	A	C	18	23524485	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.965642312347931	0.746
18	21104449	A	G	18	23524485	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0222418239664497	0.334
18	21104449	A	T	18	23524485	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.774421347707542	0.524
18	21104450	G	A	18	23524486	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.71275859275338E-4	0.036
18	21104450	G	C	18	23524486	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0057052485050025	0.082
18	21104450	G	T	18	23524486	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00330740882901635	0.048
18	21104451	G	A	18	23524487	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.992338833808363	0.682
18	21104451	G	C	18	23524487	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.998106104273755	0.866
18	21104451	G	T	18	23524487	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.994409894159667	0.748
18	21104452	T	A	18	23524488	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0774480762022072	0.294
18	21104452	T	C	18	23524488	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.066770418907551	0.26
18	21104452	T	G	18	23524488	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0641408839593918	0.248
18	21104453	C	A	18	23524489	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00277981370721186	0.012
18	21104453	C	G	18	23524489	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.85366753844144E-4	0.01
18	21104453	C	T	18	23524489	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.969361303181E-4	0.004
18	21104454	A	C	18	23524490	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.52338117257986E-4	0.004
18	21104454	A	G	18	23524490	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.16726161404255E-4	0.004
18	21104454	A	T	18	23524490	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.58610291944236E-4	0.016
18	21106589	C	A	18	23526625	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.192946533148463	0.302
18	21106589	C	G	18	23526625	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.119168402315281	0.298
18	21106589	C	T	18	23526625	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0536295358507804	0.416
18	21106590	T	A	18	23526626	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.993091675747564	0.726
18	21106590	T	C	18	23526626	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.172230485693678	0.396
18	21106590	T	G	18	23526626	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.993249130709089	0.688
18	21106591	T	A	18	23526627	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.78046143956674	0.562
18	21106591	T	C	18	23526627	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.33471604062217E-5	0.148
18	21106591	T	G	18	23526627	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.965797181474484	0.624
18	21106592	A	C	18	23526628	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.03971103403976E-5	0.322
18	21106592	A	G	18	23526628	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.59979622745782E-4	0.23
18	21106592	A	T	18	23526628	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.67297902025345E-4	0.39
18	21106593	A	C	18	23526629	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.96534360820835E-4	0.038
18	21106593	A	G	18	23526629	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999615382453881	0.962
18	21106593	A	T	18	23526629	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.74390765873567E-4	0.126
18	21106594	A	C	18	23526630	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.54179066710423E-5	0.02
18	21106594	A	G	18	23526630	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999791619429656	0.962
18	21106594	A	T	18	23526630	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.63088230483877E-5	0.022
18	21106595	A	C	18	23526631	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.49758255633629E-4	0.152
18	21106595	A	G	18	23526631	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99940201600519	0.95
18	21106595	A	T	18	23526631	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00224198885111527	0.182
18	21106596	T	A	18	23526632	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.605063424883506	0.602
18	21106596	T	C	18	23526632	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00252289087274973	0.142
18	21106596	T	G	18	23526632	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999968910918033	0.92
18	21106597	C	A	18	23526633	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.77225580179586E-4	0.066
18	21106597	C	G	18	23526633	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.35882272728546E-4	0.188
18	21106597	C	T	18	23526633	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.80339350302458E-4	0.044
18	21106598	C	A	18	23526634	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.810695149088929	0.794
18	21106598	C	G	18	23526634	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999648419412771	0.868
18	21106598	C	T	18	23526634	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0239338701037929	0.308
18	21106599	A	C	18	23526635	y	y	splicing	C18orf8(NM_001276342:exon11:c.917-2A>C;NM_013326:exon13:c.1061-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1061-2A>C;ENST00000589215:exon12:c.976-2A>C;ENST00000590868:exon11:c.917-2A>C;ENST00000590870:exon13:c.1064-2A>C)	.	.	0.999988624979899	0.944
18	21106599	A	G	18	23526635	y	y	splicing	C18orf8(NM_001276342:exon11:c.917-2A>G;NM_013326:exon13:c.1061-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1061-2A>G;ENST00000589215:exon12:c.976-2A>G;ENST00000590868:exon11:c.917-2A>G;ENST00000590870:exon13:c.1064-2A>G)	.	.	0.999988624979899	0.944
18	21106599	A	T	18	23526635	y	y	splicing	C18orf8(NM_001276342:exon11:c.917-2A>T;NM_013326:exon13:c.1061-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1061-2A>T;ENST00000589215:exon12:c.976-2A>T;ENST00000590868:exon11:c.917-2A>T;ENST00000590870:exon13:c.1064-2A>T)	.	.	0.999988624979899	0.944
18	21106600	G	A	18	23526636	y	y	splicing	C18orf8(NM_001276342:exon11:c.917-1G>A;NM_013326:exon13:c.1061-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1061-1G>A;ENST00000589215:exon12:c.976-1G>A;ENST00000590868:exon11:c.917-1G>A;ENST00000590870:exon13:c.1064-1G>A)	.	.	0.999979422316293	0.952
18	21106600	G	C	18	23526636	y	y	splicing	C18orf8(NM_001276342:exon11:c.917-1G>C;NM_013326:exon13:c.1061-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1061-1G>C;ENST00000589215:exon12:c.976-1G>C;ENST00000590868:exon11:c.917-1G>C;ENST00000590870:exon13:c.1064-1G>C)	.	.	0.999979422316293	0.952
18	21106600	G	T	18	23526636	y	y	splicing	C18orf8(NM_001276342:exon11:c.917-1G>T;NM_013326:exon13:c.1061-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1061-1G>T;ENST00000589215:exon12:c.976-1G>T;ENST00000590868:exon11:c.917-1G>T;ENST00000590870:exon13:c.1064-1G>T)	.	.	0.999979422316293	0.952
18	21106601	G	A	18	23526637	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.G1061A:p.G354D;C18orf8:NM_001276342:exon11:c.G917A:p.G306D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.G1061A:p.G354D;ENSG00000141452:ENST00000590868:exon11:c.G917A:p.G306D;	0.999706095999563	0.936
18	21106601	G	C	18	23526637	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.G1061C:p.G354A;C18orf8:NM_001276342:exon11:c.G917C:p.G306A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.G1061C:p.G354A;ENSG00000141452:ENST00000590868:exon11:c.G917C:p.G306A;	0.999838324106565	0.978
18	21106601	G	T	18	23526637	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.G1061T:p.G354V;C18orf8:NM_001276342:exon11:c.G917T:p.G306V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.G1061T:p.G354V;ENSG00000141452:ENST00000590868:exon11:c.G917T:p.G306V;	0.999881891814379	0.984
18	21106602	T	A	18	23526638	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon13:c.T1062A:p.G354G;C18orf8:NM_001276342:exon11:c.T918A:p.G306G;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.T1062A:p.G354G;ENSG00000141452:ENST00000590868:exon11:c.T918A:p.G306G;	0.00200438711593568	0.326
18	21106602	T	C	18	23526638	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon13:c.T1062C:p.G354G;C18orf8:NM_001276342:exon11:c.T918C:p.G306G;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.T1062C:p.G354G;ENSG00000141452:ENST00000590868:exon11:c.T918C:p.G306G;	0.00163172434172884	0.224
18	21106602	T	G	18	23526638	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon13:c.T1062G:p.G354G;C18orf8:NM_001276342:exon11:c.T918G:p.G306G;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.T1062G:p.G354G;ENSG00000141452:ENST00000590868:exon11:c.T918G:p.G306G;	0.00250736834199694	0.262
18	21106727	A	C	18	23526763	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.A1187C:p.Q396P;C18orf8:NM_001276342:exon11:c.A1043C:p.Q348P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.A1187C:p.Q396P;ENSG00000141452:ENST00000590868:exon11:c.A1043C:p.Q348P;	0.626542610679732	0.662
18	21106727	A	G	18	23526763	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.A1187G:p.Q396R;C18orf8:NM_001276342:exon11:c.A1043G:p.Q348R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.A1187G:p.Q396R;ENSG00000141452:ENST00000590868:exon11:c.A1043G:p.Q348R;	0.107337622546272	0.38
18	21106727	A	T	18	23526763	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.A1187T:p.Q396L;C18orf8:NM_001276342:exon11:c.A1043T:p.Q348L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.A1187T:p.Q396L;ENSG00000141452:ENST00000590868:exon11:c.A1043T:p.Q348L;	0.895357712047051	0.562
18	21106728	G	A	18	23526764	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon13:c.G1188A:p.Q396Q;C18orf8:NM_001276342:exon11:c.G1044A:p.Q348Q;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.G1188A:p.Q396Q;ENSG00000141452:ENST00000590868:exon11:c.G1044A:p.Q348Q;	0.00364737246831783	0.046
18	21106728	G	C	18	23526764	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.G1188C:p.Q396H;C18orf8:NM_001276342:exon11:c.G1044C:p.Q348H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.G1188C:p.Q396H;ENSG00000141452:ENST00000590868:exon11:c.G1044C:p.Q348H;	0.983683501566795	0.708
18	21106728	G	T	18	23526764	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.G1188T:p.Q396H;C18orf8:NM_001276342:exon11:c.G1044T:p.Q348H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.G1188T:p.Q396H;ENSG00000141452:ENST00000590868:exon11:c.G1044T:p.Q348H;	0.995908931417123	0.736
18	21106729	A	C	18	23526765	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.A1189C:p.M397L;C18orf8:NM_001276342:exon11:c.A1045C:p.M349L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.A1189C:p.M397L;ENSG00000141452:ENST00000590868:exon11:c.A1045C:p.M349L;	7.39991217386161E-4	0.032
18	21106729	A	G	18	23526765	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.A1189G:p.M397V;C18orf8:NM_001276342:exon11:c.A1045G:p.M349V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.A1189G:p.M397V;ENSG00000141452:ENST00000590868:exon11:c.A1045G:p.M349V;	0.00103166272754876	0.064
18	21106729	A	T	18	23526765	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon13:c.A1189T:p.M397L;C18orf8:NM_001276342:exon11:c.A1045T:p.M349L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon13:c.A1189T:p.M397L;ENSG00000141452:ENST00000590868:exon11:c.A1045T:p.M349L;	5.99944150536311E-4	0.108
18	21106730	G	A	18	23526766	y	y	splicing	C18orf8(NM_001276342:exon11:c.1045+1G>A;NM_013326:exon13:c.1189+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1189+1G>A;ENST00000589215:exon12:c.1104+1G>A;ENST00000590868:exon11:c.1045+1G>A;ENST00000590870:exon13:c.1192+1G>A)	.	.	0.999981760802075	0.94
18	21106730	G	C	18	23526766	y	y	splicing	C18orf8(NM_001276342:exon11:c.1045+1G>C;NM_013326:exon13:c.1189+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1189+1G>C;ENST00000589215:exon12:c.1104+1G>C;ENST00000590868:exon11:c.1045+1G>C;ENST00000590870:exon13:c.1192+1G>C)	.	.	0.999981760802075	0.94
18	21106730	G	T	18	23526766	y	y	splicing	C18orf8(NM_001276342:exon11:c.1045+1G>T;NM_013326:exon13:c.1189+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1189+1G>T;ENST00000589215:exon12:c.1104+1G>T;ENST00000590868:exon11:c.1045+1G>T;ENST00000590870:exon13:c.1192+1G>T)	.	.	0.999981760802075	0.94
18	21106731	T	A	18	23526767	y	y	splicing	C18orf8(NM_001276342:exon11:c.1045+2T>A;NM_013326:exon13:c.1189+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1189+2T>A;ENST00000589215:exon12:c.1104+2T>A;ENST00000590868:exon11:c.1045+2T>A;ENST00000590870:exon13:c.1192+2T>A)	.	.	0.999989917668626	0.928
18	21106731	T	C	18	23526767	y	y	splicing	C18orf8(NM_001276342:exon11:c.1045+2T>C;NM_013326:exon13:c.1189+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1189+2T>C;ENST00000589215:exon12:c.1104+2T>C;ENST00000590868:exon11:c.1045+2T>C;ENST00000590870:exon13:c.1192+2T>C)	.	.	0.993179459523591	0.63
18	21106731	T	G	18	23526767	y	y	splicing	C18orf8(NM_001276342:exon11:c.1045+2T>G;NM_013326:exon13:c.1189+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon13:c.1189+2T>G;ENST00000589215:exon12:c.1104+2T>G;ENST00000590868:exon11:c.1045+2T>G;ENST00000590870:exon13:c.1192+2T>G)	.	.	0.999989917668626	0.928
18	21106732	A	C	18	23526768	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999154981188128	0.908
18	21106732	A	G	18	23526768	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0213358398219802	0.294
18	21106732	A	T	18	23526768	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999156250525827	0.94
18	21106733	A	C	18	23526769	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.824244344696789	0.586
18	21106733	A	G	18	23526769	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.893858331443329	0.65
18	21106733	A	T	18	23526769	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.856768406316667	0.622
18	21106734	G	A	18	23526770	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999966595830734	0.972
18	21106734	G	C	18	23526770	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999970633514732	0.976
18	21106734	G	T	18	23526770	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999975626060327	0.994
18	21106735	T	A	18	23526771	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.772429463141675	0.53
18	21106735	T	C	18	23526771	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.318494199972425	0.488
18	21106735	T	G	18	23526771	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.95696249475167	0.658
18	21106736	T	A	18	23526772	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.07446189543984E-5	0.006
18	21106736	T	C	18	23526772	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.55869924932381E-5	0.0
18	21106736	T	G	18	23526772	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.07659979165705E-5	0.002
18	21106737	G	A	18	23526773	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.75538498902536E-5	0.0
18	21106737	G	C	18	23526773	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.02203293062935E-5	0.0
18	21106737	G	T	18	23526773	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.02203293062935E-5	0.0
18	21107747	G	A	18	23527783	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.5810880687477E-4	0.038
18	21107747	G	C	18	23527783	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.36714513558346E-5	0.0
18	21107747	G	T	18	23527783	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.08468474885256E-6	0.004
18	21107748	T	A	18	23527784	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.998932486289179	0.97
18	21107748	T	C	18	23527784	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.27222990333854E-4	0.042
18	21107748	T	G	18	23527784	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.468485170784762	0.36
18	21107749	G	A	18	23527785	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.53223871344033E-4	0.034
18	21107749	G	C	18	23527785	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.86560878811275E-5	0.006
18	21107749	G	T	18	23527785	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.97156404244932E-5	0.0
18	21107750	C	A	18	23527786	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.15861753833132E-4	0.056
18	21107750	C	G	18	23527786	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.42072579763608E-4	0.028
18	21107750	C	T	18	23527786	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.61327626129568E-5	0.0
18	21107751	C	A	18	23527787	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00228672237191363	0.068
18	21107751	C	G	18	23527787	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00194772308389956	0.086
18	21107751	C	T	18	23527787	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.86242781083322E-4	0.02
18	21107752	T	A	18	23527788	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0539106527939986	0.192
18	21107752	T	C	18	23527788	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.04378153333717E-4	0.014
18	21107752	T	G	18	23527788	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00480600080784074	0.084
18	21107753	T	A	18	23527789	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.905135027547006	0.776
18	21107753	T	C	18	23527789	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.53474903627269E-4	0.026
18	21107753	T	G	18	23527789	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.731990574514282	0.766
18	21107754	T	A	18	23527790	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.267283193556987	0.428
18	21107754	T	C	18	23527790	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0010495931669491	0.194
18	21107754	T	G	18	23527790	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.649753780741844	0.374
18	21107755	C	A	18	23527791	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.64638325552787E-5	0.01
18	21107755	C	G	18	23527791	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.17164635689995E-5	0.016
18	21107755	C	T	18	23527791	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.64638325552787E-5	0.01
18	21107756	C	A	18	23527792	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.997263498712347	0.86
18	21107756	C	G	18	23527792	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999889016703134	0.872
18	21107756	C	T	18	23527792	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0436884276463037	0.086
18	21107757	A	C	18	23527793	y	y	splicing	C18orf8(NM_001276342:exon12:c.1046-2A>C;NM_013326:exon14:c.1190-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1190-2A>C;ENST00000589215:exon13:c.1105-2A>C;ENST00000590868:exon12:c.1046-2A>C;ENST00000590870:exon14:c.1193-2A>C)	.	.	0.999986741007567	0.944
18	21107757	A	G	18	23527793	y	y	splicing	C18orf8(NM_001276342:exon12:c.1046-2A>G;NM_013326:exon14:c.1190-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1190-2A>G;ENST00000589215:exon13:c.1105-2A>G;ENST00000590868:exon12:c.1046-2A>G;ENST00000590870:exon14:c.1193-2A>G)	.	.	0.999986741007567	0.944
18	21107757	A	T	18	23527793	y	y	splicing	C18orf8(NM_001276342:exon12:c.1046-2A>T;NM_013326:exon14:c.1190-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1190-2A>T;ENST00000589215:exon13:c.1105-2A>T;ENST00000590868:exon12:c.1046-2A>T;ENST00000590870:exon14:c.1193-2A>T)	.	.	0.999986741007567	0.944
18	21107758	G	A	18	23527794	y	y	splicing	C18orf8(NM_001276342:exon12:c.1046-1G>A;NM_013326:exon14:c.1190-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1190-1G>A;ENST00000589215:exon13:c.1105-1G>A;ENST00000590868:exon12:c.1046-1G>A;ENST00000590870:exon14:c.1193-1G>A)	.	.	0.999979422316293	0.944
18	21107758	G	C	18	23527794	y	y	splicing	C18orf8(NM_001276342:exon12:c.1046-1G>C;NM_013326:exon14:c.1190-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1190-1G>C;ENST00000589215:exon13:c.1105-1G>C;ENST00000590868:exon12:c.1046-1G>C;ENST00000590870:exon14:c.1193-1G>C)	.	.	0.999979422316293	0.944
18	21107758	G	T	18	23527794	y	y	splicing	C18orf8(NM_001276342:exon12:c.1046-1G>T;NM_013326:exon14:c.1190-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1190-1G>T;ENST00000589215:exon13:c.1105-1G>T;ENST00000590868:exon12:c.1046-1G>T;ENST00000590870:exon14:c.1193-1G>T)	.	.	0.999979422316293	0.944
18	21107759	T	A	18	23527795	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.T1190A:p.M397K;C18orf8:NM_001276342:exon12:c.T1046A:p.M349K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.T1190A:p.M397K;ENSG00000141452:ENST00000590868:exon12:c.T1046A:p.M349K;	0.582445924885677	0.57
18	21107759	T	C	18	23527795	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.T1190C:p.M397T;C18orf8:NM_001276342:exon12:c.T1046C:p.M349T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.T1190C:p.M397T;ENSG00000141452:ENST00000590868:exon12:c.T1046C:p.M349T;	0.487814281585273	0.386
18	21107759	T	G	18	23527795	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.T1190G:p.M397R;C18orf8:NM_001276342:exon12:c.T1046G:p.M349R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.T1190G:p.M397R;ENSG00000141452:ENST00000590868:exon12:c.T1046G:p.M349R;	0.59820382414696	0.358
18	21107760	G	A	18	23527796	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.G1191A:p.M397I;C18orf8:NM_001276342:exon12:c.G1047A:p.M349I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.G1191A:p.M397I;ENSG00000141452:ENST00000590868:exon12:c.G1047A:p.M349I;	0.0274884466357966	0.156
18	21107760	G	C	18	23527796	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.G1191C:p.M397I;C18orf8:NM_001276342:exon12:c.G1047C:p.M349I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.G1191C:p.M397I;ENSG00000141452:ENST00000590868:exon12:c.G1047C:p.M349I;	0.00737224811756421	0.122
18	21107760	G	T	18	23527796	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.G1191T:p.M397I;C18orf8:NM_001276342:exon12:c.G1047T:p.M349I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.G1191T:p.M397I;ENSG00000141452:ENST00000590868:exon12:c.G1047T:p.M349I;	0.00461417095067469	0.05
18	21107863	A	C	18	23527899	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.A1294C:p.M432L;C18orf8:NM_001276342:exon12:c.A1150C:p.M384L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.A1294C:p.M432L;ENSG00000141452:ENST00000590868:exon12:c.A1150C:p.M384L;	8.59693584801562E-5	0.002
18	21107863	A	G	18	23527899	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.A1294G:p.M432V;C18orf8:NM_001276342:exon12:c.A1150G:p.M384V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.A1294G:p.M432V;ENSG00000141452:ENST00000590868:exon12:c.A1150G:p.M384V;	1.69290078498613E-4	0.0
18	21107863	A	T	18	23527899	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.A1294T:p.M432L;C18orf8:NM_001276342:exon12:c.A1150T:p.M384L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.A1294T:p.M432L;ENSG00000141452:ENST00000590868:exon12:c.A1150T:p.M384L;	4.81052806536669E-4	0.096
18	21107864	T	A	18	23527900	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.T1295A:p.M432K;C18orf8:NM_001276342:exon12:c.T1151A:p.M384K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.T1295A:p.M432K;ENSG00000141452:ENST00000590868:exon12:c.T1151A:p.M384K;	4.34935568629621E-5	0.076
18	21107864	T	C	18	23527900	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.T1295C:p.M432T;C18orf8:NM_001276342:exon12:c.T1151C:p.M384T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.T1295C:p.M432T;ENSG00000141452:ENST00000590868:exon12:c.T1151C:p.M384T;	3.43472082864279E-5	0.0
18	21107864	T	G	18	23527900	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.T1295G:p.M432R;C18orf8:NM_001276342:exon12:c.T1151G:p.M384R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.T1295G:p.M432R;ENSG00000141452:ENST00000590868:exon12:c.T1151G:p.M384R;	6.49730935530318E-4	0.032
18	21107865	G	A	18	23527901	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.G1296A:p.M432I;C18orf8:NM_001276342:exon12:c.G1152A:p.M384I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.G1296A:p.M432I;ENSG00000141452:ENST00000590868:exon12:c.G1152A:p.M384I;	0.999818165941027	0.99
18	21107865	G	C	18	23527901	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.G1296C:p.M432I;C18orf8:NM_001276342:exon12:c.G1152C:p.M384I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.G1296C:p.M432I;ENSG00000141452:ENST00000590868:exon12:c.G1152C:p.M384I;	0.999916725498765	0.896
18	21107865	G	T	18	23527901	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon14:c.G1296T:p.M432I;C18orf8:NM_001276342:exon12:c.G1152T:p.M384I;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon14:c.G1296T:p.M432I;ENSG00000141452:ENST00000590868:exon12:c.G1152T:p.M384I;	0.999526847778104	0.962
18	21107866	G	A	18	23527902	y	y	splicing	C18orf8(NM_001276342:exon12:c.1152+1G>A;NM_013326:exon14:c.1296+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1296+1G>A;ENST00000589215:exon13:c.1211+1G>A;ENST00000590868:exon12:c.1152+1G>A;ENST00000590870:exon14:c.1299+1G>A)	.	.	0.999985532734767	0.934
18	21107866	G	C	18	23527902	y	y	splicing	C18orf8(NM_001276342:exon12:c.1152+1G>C;NM_013326:exon14:c.1296+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1296+1G>C;ENST00000589215:exon13:c.1211+1G>C;ENST00000590868:exon12:c.1152+1G>C;ENST00000590870:exon14:c.1299+1G>C)	.	.	0.999985532734767	0.934
18	21107866	G	T	18	23527902	y	y	splicing	C18orf8(NM_001276342:exon12:c.1152+1G>T;NM_013326:exon14:c.1296+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1296+1G>T;ENST00000589215:exon13:c.1211+1G>T;ENST00000590868:exon12:c.1152+1G>T;ENST00000590870:exon14:c.1299+1G>T)	.	.	0.999985532734767	0.934
18	21107867	T	A	18	23527903	y	y	splicing	C18orf8(NM_001276342:exon12:c.1152+2T>A;NM_013326:exon14:c.1296+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1296+2T>A;ENST00000589215:exon13:c.1211+2T>A;ENST00000590868:exon12:c.1152+2T>A;ENST00000590870:exon14:c.1299+2T>A)	.	.	0.999978952611685	0.928
18	21107867	T	C	18	23527903	y	y	splicing	C18orf8(NM_001276342:exon12:c.1152+2T>C;NM_013326:exon14:c.1296+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1296+2T>C;ENST00000589215:exon13:c.1211+2T>C;ENST00000590868:exon12:c.1152+2T>C;ENST00000590870:exon14:c.1299+2T>C)	.	.	0.999593509399216	0.86
18	21107867	T	G	18	23527903	y	y	splicing	C18orf8(NM_001276342:exon12:c.1152+2T>G;NM_013326:exon14:c.1296+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon14:c.1296+2T>G;ENST00000589215:exon13:c.1211+2T>G;ENST00000590868:exon12:c.1152+2T>G;ENST00000590870:exon14:c.1299+2T>G)	.	.	0.99994568797423	0.926
18	21107868	G	A	18	23527904	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.65965658795311E-5	0.0
18	21107868	G	C	18	23527904	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0664675121844228	0.358
18	21107868	G	T	18	23527904	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0142474012912297	0.162
18	21107869	A	C	18	23527905	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.540060899436724	0.442
18	21107869	A	G	18	23527905	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.97783076151857	0.722
18	21107869	A	T	18	23527905	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.970873253916747	0.696
18	21107870	G	A	18	23527906	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999896012366753	0.94
18	21107870	G	C	18	23527906	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999964642815122	0.89
18	21107870	G	T	18	23527906	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999917052238062	0.924
18	21107871	T	A	18	23527907	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.204432257654614	0.292
18	21107871	T	C	18	23527907	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0163740788964985	0.23
18	21107871	T	G	18	23527907	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0127826409582446	0.3
18	21107872	T	A	18	23527908	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.78389654127837E-5	0.006
18	21107872	T	C	18	23527908	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.78389654127837E-5	0.0
18	21107872	T	G	18	23527908	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.78389654127837E-5	0.0
18	21107873	A	C	18	23527909	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.80137299946668E-5	0.016
18	21107873	A	G	18	23527909	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.26333577966213E-4	0.014
18	21107873	A	T	18	23527909	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.0891224018345E-4	0.026
18	21109131	T	A	18	23529167	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.52608189424818E-4	0.098
18	21109131	T	C	18	23529167	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.37075857353444E-4	0.006
18	21109131	T	G	18	23529167	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.95293763879604E-4	0.058
18	21109132	T	A	18	23529168	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.06509290902594E-4	0.104
18	21109132	T	C	18	23529168	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.10354157931939E-5	0.002
18	21109132	T	G	18	23529168	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.41245089256444E-5	0.024
18	21109133	T	A	18	23529169	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.16550065355165E-4	0.024
18	21109133	T	C	18	23529169	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.69432428514303E-5	0.002
18	21109133	T	G	18	23529169	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	8.36690586378646E-5	0.062
18	21109134	T	A	18	23529170	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	8.07203558310265E-5	0.044
18	21109134	T	C	18	23529170	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	6.46553986253724E-5	0.002
18	21109134	T	G	18	23529170	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	9.30058537048163E-5	0.06
18	21109135	T	A	18	23529171	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.51304763309194E-5	0.016
18	21109135	T	C	18	23529171	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.54757994089001E-5	0.0
18	21109135	T	G	18	23529171	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.59779154436065E-5	0.016
18	21109136	C	A	18	23529172	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.71791050492763E-5	0.018
18	21109136	C	G	18	23529172	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.89068212440509E-5	0.006
18	21109136	C	T	18	23529172	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.70742721876251E-5	0.0
18	21109137	T	A	18	23529173	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.36587168140837E-4	0.064
18	21109137	T	C	18	23529173	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.64588986117306E-5	0.014
18	21109137	T	G	18	23529173	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.70879772141267E-4	0.1
18	21109138	T	A	18	23529174	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00113733942586139	0.218
18	21109138	T	C	18	23529174	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.41358783732488E-4	0.096
18	21109138	T	G	18	23529174	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	9.51154438131015E-4	0.216
18	21109139	T	A	18	23529175	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	3.35542727870065E-5	0.0
18	21109139	T	C	18	23529175	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.23450101206657E-5	0.002
18	21109139	T	G	18	23529175	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	7.69804235104544E-5	0.0
18	21109140	C	A	18	23529176	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.228797955491404	0.35
18	21109140	C	G	18	23529176	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.985674005529988	0.644
18	21109140	C	T	18	23529176	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00132184393709378	0.166
18	21109141	A	C	18	23529177	y	y	splicing	C18orf8(NM_001276342:exon13:c.1153-2A>C;NM_013326:exon15:c.1297-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1297-2A>C;ENST00000589215:exon14:c.1212-2A>C;ENST00000590868:exon13:c.1153-2A>C;ENST00000590870:exon15:c.1300-2A>C)	.	.	0.99994568797423	0.946
18	21109141	A	G	18	23529177	y	y	splicing	C18orf8(NM_001276342:exon13:c.1153-2A>G;NM_013326:exon15:c.1297-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1297-2A>G;ENST00000589215:exon14:c.1212-2A>G;ENST00000590868:exon13:c.1153-2A>G;ENST00000590870:exon15:c.1300-2A>G)	.	.	0.99994568797423	0.946
18	21109141	A	T	18	23529177	y	y	splicing	C18orf8(NM_001276342:exon13:c.1153-2A>T;NM_013326:exon15:c.1297-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1297-2A>T;ENST00000589215:exon14:c.1212-2A>T;ENST00000590868:exon13:c.1153-2A>T;ENST00000590870:exon15:c.1300-2A>T)	.	.	0.99994568797423	0.94
18	21109142	G	A	18	23529178	y	y	splicing	C18orf8(NM_001276342:exon13:c.1153-1G>A;NM_013326:exon15:c.1297-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1297-1G>A;ENST00000589215:exon14:c.1212-1G>A;ENST00000590868:exon13:c.1153-1G>A;ENST00000590870:exon15:c.1300-1G>A)	.	.	0.999949496871441	0.932
18	21109142	G	C	18	23529178	y	y	splicing	C18orf8(NM_001276342:exon13:c.1153-1G>C;NM_013326:exon15:c.1297-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1297-1G>C;ENST00000589215:exon14:c.1212-1G>C;ENST00000590868:exon13:c.1153-1G>C;ENST00000590870:exon15:c.1300-1G>C)	.	.	0.999949496871441	0.942
18	21109142	G	T	18	23529178	y	y	splicing	C18orf8(NM_001276342:exon13:c.1153-1G>T;NM_013326:exon15:c.1297-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1297-1G>T;ENST00000589215:exon14:c.1212-1G>T;ENST00000590868:exon13:c.1153-1G>T;ENST00000590870:exon15:c.1300-1G>T)	.	.	0.999949496871441	0.932
18	21109143	G	A	18	23529179	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.G1297A:p.A433T;C18orf8:NM_001276342:exon13:c.G1153A:p.A385T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.G1297A:p.A433T;ENSG00000141452:ENST00000590868:exon13:c.G1153A:p.A385T;	0.997738441625285	0.726
18	21109143	G	C	18	23529179	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.G1297C:p.A433P;C18orf8:NM_001276342:exon13:c.G1153C:p.A385P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.G1297C:p.A433P;ENSG00000141452:ENST00000590868:exon13:c.G1153C:p.A385P;	0.999665240025653	0.866
18	21109143	G	T	18	23529179	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.G1297T:p.A433S;C18orf8:NM_001276342:exon13:c.G1153T:p.A385S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.G1297T:p.A433S;ENSG00000141452:ENST00000590868:exon13:c.G1153T:p.A385S;	0.99923918406192	0.828
18	21109144	C	A	18	23529180	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.C1298A:p.A433E;C18orf8:NM_001276342:exon13:c.C1154A:p.A385E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.C1298A:p.A433E;ENSG00000141452:ENST00000590868:exon13:c.C1154A:p.A385E;	0.0358006737300201	0.056
18	21109144	C	G	18	23529180	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.C1298G:p.A433G;C18orf8:NM_001276342:exon13:c.C1154G:p.A385G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.C1298G:p.A433G;ENSG00000141452:ENST00000590868:exon13:c.C1154G:p.A385G;	0.0178969942940217	0.056
18	21109144	C	T	18	23529180	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.C1298T:p.A433V;C18orf8:NM_001276342:exon13:c.C1154T:p.A385V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.C1298T:p.A433V;ENSG00000141452:ENST00000590868:exon13:c.C1154T:p.A385V;	0.00640841595658666	0.066
18	21109260	A	C	18	23529296	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.A1414C:p.K472Q;C18orf8:NM_001276342:exon13:c.A1270C:p.K424Q;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.A1414C:p.K472Q;ENSG00000141452:ENST00000590868:exon13:c.A1270C:p.K424Q;	0.889543166613229	0.808
18	21109260	A	G	18	23529296	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.A1414G:p.K472E;C18orf8:NM_001276342:exon13:c.A1270G:p.K424E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.A1414G:p.K472E;ENSG00000141452:ENST00000590868:exon13:c.A1270G:p.K424E;	0.909442976955459	0.532
18	21109260	A	T	18	23529296	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon15:c.A1414T:p.K472X;C18orf8:NM_001276342:exon13:c.A1270T:p.K424X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000269221:exon15:c.A1414T:p.K472X;ENSG00000141452:ENST00000590868:exon13:c.A1270T:p.K424X;	0.998317795782929	0.87
18	21109261	A	C	18	23529297	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.A1415C:p.K472T;C18orf8:NM_001276342:exon13:c.A1271C:p.K424T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.A1415C:p.K472T;ENSG00000141452:ENST00000590868:exon13:c.A1271C:p.K424T;	0.999888280926732	0.974
18	21109261	A	G	18	23529297	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.A1415G:p.K472R;C18orf8:NM_001276342:exon13:c.A1271G:p.K424R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.A1415G:p.K472R;ENSG00000141452:ENST00000590868:exon13:c.A1271G:p.K424R;	0.999954147574063	0.992
18	21109261	A	T	18	23529297	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.A1415T:p.K472M;C18orf8:NM_001276342:exon13:c.A1271T:p.K424M;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.A1415T:p.K472M;ENSG00000141452:ENST00000590868:exon13:c.A1271T:p.K424M;	0.999955820148849	1.0
18	21109262	G	A	18	23529298	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon15:c.G1416A:p.K472K;C18orf8:NM_001276342:exon13:c.G1272A:p.K424K;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.G1416A:p.K472K;ENSG00000141452:ENST00000590868:exon13:c.G1272A:p.K424K;	0.999976065368382	0.998
18	21109262	G	C	18	23529298	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.G1416C:p.K472N;C18orf8:NM_001276342:exon13:c.G1272C:p.K424N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.G1416C:p.K472N;ENSG00000141452:ENST00000590868:exon13:c.G1272C:p.K424N;	0.999997643939171	1.0
18	21109262	G	T	18	23529298	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon15:c.G1416T:p.K472N;C18orf8:NM_001276342:exon13:c.G1272T:p.K424N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon15:c.G1416T:p.K472N;ENSG00000141452:ENST00000590868:exon13:c.G1272T:p.K424N;	0.999990068207186	0.998
18	21109263	G	A	18	23529299	y	y	splicing	C18orf8(NM_001276342:exon13:c.1272+1G>A;NM_013326:exon15:c.1416+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1416+1G>A;ENST00000589215:exon14:c.1331+1G>A;ENST00000590868:exon13:c.1272+1G>A;ENST00000590870:exon15:c.1419+1G>A)	.	.	0.999990361384395	0.948
18	21109263	G	C	18	23529299	y	y	splicing	C18orf8(NM_001276342:exon13:c.1272+1G>C;NM_013326:exon15:c.1416+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1416+1G>C;ENST00000589215:exon14:c.1331+1G>C;ENST00000590868:exon13:c.1272+1G>C;ENST00000590870:exon15:c.1419+1G>C)	.	.	0.999990361384395	0.948
18	21109263	G	T	18	23529299	y	y	splicing	C18orf8(NM_001276342:exon13:c.1272+1G>T;NM_013326:exon15:c.1416+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1416+1G>T;ENST00000589215:exon14:c.1331+1G>T;ENST00000590868:exon13:c.1272+1G>T;ENST00000590870:exon15:c.1419+1G>T)	.	.	0.999990361384395	0.948
18	21109264	T	A	18	23529300	y	y	splicing	C18orf8(NM_001276342:exon13:c.1272+2T>A;NM_013326:exon15:c.1416+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1416+2T>A;ENST00000589215:exon14:c.1331+2T>A;ENST00000590868:exon13:c.1272+2T>A;ENST00000590870:exon15:c.1419+2T>A)	.	.	0.999986607513753	0.932
18	21109264	T	C	18	23529300	y	y	splicing	C18orf8(NM_001276342:exon13:c.1272+2T>C;NM_013326:exon15:c.1416+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1416+2T>C;ENST00000589215:exon14:c.1331+2T>C;ENST00000590868:exon13:c.1272+2T>C;ENST00000590870:exon15:c.1419+2T>C)	.	.	0.999949326536153	0.888
18	21109264	T	G	18	23529300	y	y	splicing	C18orf8(NM_001276342:exon13:c.1272+2T>G;NM_013326:exon15:c.1416+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon15:c.1416+2T>G;ENST00000589215:exon14:c.1331+2T>G;ENST00000590868:exon13:c.1272+2T>G;ENST00000590870:exon15:c.1419+2T>G)	.	.	0.999986607513753	0.932
18	21109265	G	A	18	23529301	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.71810920383513E-4	0.242
18	21109265	G	C	18	23529301	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00441289530076102	0.294
18	21109265	G	T	18	23529301	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.0140831588890907	0.266
18	21109266	G	A	18	23529302	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.46103707908488E-4	0.086
18	21109266	G	C	18	23529302	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.46608973035301E-4	0.124
18	21109266	G	T	18	23529302	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00137157633496981	0.068
18	21109267	G	A	18	23529303	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.99963184189218	0.982
18	21109267	G	C	18	23529303	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.969570641248523	0.91
18	21109267	G	T	18	23529303	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.999978573536582	0.996
18	21109268	C	A	18	23529304	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.30512754252395E-4	0.062
18	21109268	C	G	18	23529304	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	7.32063055888501E-4	0.064
18	21109268	C	T	18	23529304	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	9.82661980424804E-5	0.024
18	21109269	T	A	18	23529305	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	3.81097486388302E-5	0.026
18	21109269	T	C	18	23529305	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	3.77021632052541E-5	0.042
18	21109269	T	G	18	23529305	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.13128556211048E-5	0.026
18	21109270	G	A	18	23529306	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.7234372503579E-4	0.066
18	21109270	G	C	18	23529306	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.33379916382566E-4	0.032
18	21109270	G	T	18	23529306	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	3.71564505509036E-4	0.068
18	21109317	T	A	18	23529353	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.2194139863653E-4	0.0
18	21109317	T	C	18	23529353	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.2194139863653E-4	0.0
18	21109317	T	G	18	23529353	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.2194139863653E-4	0.0
18	21109318	G	A	18	23529354	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	6.5908222467397E-5	0.004
18	21109318	G	C	18	23529354	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	3.88563338073588E-5	0.004
18	21109318	G	T	18	23529354	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	5.17031212867285E-5	0.004
18	21109319	C	A	18	23529355	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000586150:exon5:c.510-1G>T)	.	.	1.42005417025298E-5	0.0
18	21109319	C	G	18	23529355	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000586150:exon5:c.510-1G>C)	.	.	1.42005417025298E-5	0.0
18	21109319	C	T	18	23529355	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000586150:exon5:c.510-1G>A)	.	.	1.42005417025298E-5	0.0
18	21109320	T	A	18	23529356	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000586150:exon5:c.510-2A>T)	.	.	5.00684438526636E-5	0.014
18	21109320	T	C	18	23529356	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000586150:exon5:c.510-2A>G)	.	.	0.0018598257584453	0.04
18	21109320	T	G	18	23529356	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000586150:exon5:c.510-2A>C)	.	.	1.66537438043849E-4	0.016
18	21109321	G	A	18	23529357	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	7.40704031316793E-5	0.006
18	21109321	G	C	18	23529357	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	6.36567682305367E-5	0.006
18	21109321	G	T	18	23529357	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	6.36567682305367E-5	0.006
18	21109322	A	C	18	23529358	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.54404724015672E-5	0.0
18	21109322	A	G	18	23529358	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.54404724015672E-5	0.0
18	21109322	A	T	18	23529358	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.2194139863653E-4	0.0
18	21109323	A	C	18	23529359	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	7.0143886708317E-5	0.01
18	21109323	A	G	18	23529359	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	7.0143886708317E-5	0.01
18	21109323	A	T	18	23529359	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	7.0143886708317E-5	0.012
18	21109324	A	C	18	23529360	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.33815804894828E-5	0.0
18	21109324	A	G	18	23529360	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.33815804894828E-5	0.0
18	21109324	A	T	18	23529360	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.33815804894828E-5	0.0
18	21109325	A	C	18	23529361	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.05808194911997E-5	0.014
18	21109325	A	G	18	23529361	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.05808194911997E-5	0.014
18	21109325	A	T	18	23529361	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	5.05808194911997E-5	0.006
18	21109326	C	A	18	23529362	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.42005417025298E-5	0.002
18	21109326	C	G	18	23529362	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.42005417025298E-5	0.002
18	21109326	C	T	18	23529362	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.42005417025298E-5	0.002
18	21109327	G	A	18	23529363	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.70337218186484E-5	0.0
18	21109327	G	C	18	23529363	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.70337218186484E-5	0.0
18	21109327	G	T	18	23529363	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.70337218186484E-5	0.0
18	21109328	A	C	18	23529364	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.4188848540582E-4	0.004
18	21109328	A	G	18	23529364	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.4188848540582E-4	0.004
18	21109328	A	T	18	23529364	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.99631197343012E-4	0.008
18	21109329	G	A	18	23529365	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00278723872534981	0.022
18	21109329	G	C	18	23529365	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00192455113888457	0.022
18	21109329	G	T	18	23529365	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00213836854043836	0.024
18	21109330	G	A	18	23529366	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.02337758398172E-4	0.0
18	21109330	G	C	18	23529366	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.02337758398172E-4	0.0
18	21109330	G	T	18	23529366	n	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.02337758398172E-4	0.0
18	21109587	T	A	18	23529623	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00110999014481069	0.096
18	21109587	T	C	18	23529623	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.11773665242992E-4	0.012
18	21109587	T	G	18	23529623	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00103421852259282	0.136
18	21109588	T	A	18	23529624	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.85462972869101E-4	0.042
18	21109588	T	C	18	23529624	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.2123944721253E-4	0.01
18	21109588	T	G	18	23529624	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.91473531838539E-4	0.082
18	21109589	T	A	18	23529625	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.38424216620997E-4	0.14
18	21109589	T	C	18	23529625	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	6.46844991217429E-5	0.002
18	21109589	T	G	18	23529625	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	3.29200558914009E-4	0.124
18	21109590	T	A	18	23529626	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00175409858962752	0.14
18	21109590	T	C	18	23529626	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.26536282172963E-4	0.004
18	21109590	T	G	18	23529626	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00101976590614508	0.144
18	21109591	C	A	18	23529627	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00104322470317094	0.044
18	21109591	C	G	18	23529627	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.78762304436985E-4	0.016
18	21109591	C	T	18	23529627	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	4.87953176094321E-5	0.004
18	21109592	T	A	18	23529628	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	6.06848158187835E-4	0.04
18	21109592	T	C	18	23529628	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.11657407965104E-4	0.006
18	21109592	T	G	18	23529628	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	2.23041510308125E-4	0.006
18	21109593	C	A	18	23529629	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00136340651654392	0.082
18	21109593	C	G	18	23529629	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	9.59630702508257E-4	0.104
18	21109593	C	T	18	23529629	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.66924800678494E-4	0.052
18	21109594	C	A	18	23529630	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	3.80836057078646E-4	0.018
18	21109594	C	G	18	23529630	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00116262888473751	0.044
18	21109594	C	T	18	23529630	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	8.53292460361593E-5	0.024
18	21109595	C	A	18	23529631	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.52276608712576E-5	0.0
18	21109595	C	G	18	23529631	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.73286190996481E-5	0.01
18	21109595	C	T	18	23529631	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	1.76908908631721E-5	0.004
18	21109596	T	A	18	23529632	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.00692419721234849	0.164
18	21109596	T	C	18	23529632	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	7.10433014667476E-5	0.002
18	21109596	T	G	18	23529632	y	y	intronic	C18orf8	.	.	UTR3	ENSG00000141458	.	.	0.353165261828744	0.56
18	21109597	A	C	18	23529633	y	y	splicing	C18orf8(NM_001276342:exon14:c.1273-2A>C;NM_013326:exon16:c.1417-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon16:c.1417-2A>C;ENST00000589215:exon15:c.1332-2A>C;ENST00000590868:exon14:c.1273-2A>C;ENST00000590870:exon16:c.1420-2A>C)	.	.	0.999988247793601	0.926
18	21109597	A	G	18	23529633	y	y	splicing	C18orf8(NM_001276342:exon14:c.1273-2A>G;NM_013326:exon16:c.1417-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon16:c.1417-2A>G;ENST00000589215:exon15:c.1332-2A>G;ENST00000590868:exon14:c.1273-2A>G;ENST00000590870:exon16:c.1420-2A>G)	.	.	0.999988247793601	0.926
18	21109597	A	T	18	23529633	y	y	splicing	C18orf8(NM_001276342:exon14:c.1273-2A>T;NM_013326:exon16:c.1417-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon16:c.1417-2A>T;ENST00000589215:exon15:c.1332-2A>T;ENST00000590868:exon14:c.1273-2A>T;ENST00000590870:exon16:c.1420-2A>T)	.	.	0.999988247793601	0.926
18	21109598	G	A	18	23529634	y	y	splicing	C18orf8(NM_001276342:exon14:c.1273-1G>A;NM_013326:exon16:c.1417-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon16:c.1417-1G>A;ENST00000589215:exon15:c.1332-1G>A;ENST00000590868:exon14:c.1273-1G>A;ENST00000590870:exon16:c.1420-1G>A)	.	.	0.999985532734767	0.936
18	21109598	G	C	18	23529634	y	y	splicing	C18orf8(NM_001276342:exon14:c.1273-1G>C;NM_013326:exon16:c.1417-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon16:c.1417-1G>C;ENST00000589215:exon15:c.1332-1G>C;ENST00000590868:exon14:c.1273-1G>C;ENST00000590870:exon16:c.1420-1G>C)	.	.	0.999985532734767	0.934
18	21109598	G	T	18	23529634	y	y	splicing	C18orf8(NM_001276342:exon14:c.1273-1G>T;NM_013326:exon16:c.1417-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon16:c.1417-1G>T;ENST00000589215:exon15:c.1332-1G>T;ENST00000590868:exon14:c.1273-1G>T;ENST00000590870:exon16:c.1420-1G>T)	.	.	0.999985532734767	0.934
18	21109599	G	A	18	23529635	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.G1417A:p.E473K;C18orf8:NM_001276342:exon14:c.G1273A:p.E425K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.G1417A:p.E473K;ENSG00000141452:ENST00000590868:exon14:c.G1273A:p.E425K;	0.465045612276333	0.518
18	21109599	G	C	18	23529635	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.G1417C:p.E473Q;C18orf8:NM_001276342:exon14:c.G1273C:p.E425Q;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.G1417C:p.E473Q;ENSG00000141452:ENST00000590868:exon14:c.G1273C:p.E425Q;	0.924944595457683	0.834
18	21109599	G	T	18	23529635	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon16:c.G1417T:p.E473X;C18orf8:NM_001276342:exon14:c.G1273T:p.E425X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000269221:exon16:c.G1417T:p.E473X;ENSG00000141452:ENST00000590868:exon14:c.G1273T:p.E425X;	0.996988450477056	0.91
18	21109600	A	C	18	23529636	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.A1418C:p.E473A;C18orf8:NM_001276342:exon14:c.A1274C:p.E425A;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.A1418C:p.E473A;ENSG00000141452:ENST00000590868:exon14:c.A1274C:p.E425A;	0.0189870222495363	0.17
18	21109600	A	G	18	23529636	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.A1418G:p.E473G;C18orf8:NM_001276342:exon14:c.A1274G:p.E425G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.A1418G:p.E473G;ENSG00000141452:ENST00000590868:exon14:c.A1274G:p.E425G;	0.0189870222495363	0.138
18	21109600	A	T	18	23529636	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.A1418T:p.E473V;C18orf8:NM_001276342:exon14:c.A1274T:p.E425V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.A1418T:p.E473V;ENSG00000141452:ENST00000590868:exon14:c.A1274T:p.E425V;	0.820822389352578	0.752
18	21109674	C	A	18	23529710	y	n	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.C1492A:p.Q498K;C18orf8:NM_001276342:exon14:c.C1348A:p.Q450K;	exonic	ENSG00000141452;ENSG00000141458	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.C1492A:p.Q498K;ENSG00000141452:ENST00000590868:exon14:c.C1348A:p.Q450K;	0.0869397581995198	0.386
18	21109674	C	G	18	23529710	y	n	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.C1492G:p.Q498E;C18orf8:NM_001276342:exon14:c.C1348G:p.Q450E;	exonic	ENSG00000141452;ENSG00000141458	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.C1492G:p.Q498E;ENSG00000141452:ENST00000590868:exon14:c.C1348G:p.Q450E;	0.0556479779362016	0.262
18	21109674	C	T	18	23529710	y	n	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon16:c.C1492T:p.Q498X;C18orf8:NM_001276342:exon14:c.C1348T:p.Q450X;	exonic	ENSG00000141452;ENSG00000141458	stopgain SNV	ENSG00000141452:ENST00000269221:exon16:c.C1492T:p.Q498X;ENSG00000141452:ENST00000590868:exon14:c.C1348T:p.Q450X;	0.993912797987336	0.874
18	21109675	A	C	18	23529711	y	n	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.A1493C:p.Q498P;C18orf8:NM_001276342:exon14:c.A1349C:p.Q450P;	exonic	ENSG00000141452;ENSG00000141458	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.A1493C:p.Q498P;ENSG00000141452:ENST00000590868:exon14:c.A1349C:p.Q450P;	0.999842978344912	0.986
18	21109675	A	G	18	23529711	y	n	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.A1493G:p.Q498R;C18orf8:NM_001276342:exon14:c.A1349G:p.Q450R;	exonic	ENSG00000141452;ENSG00000141458	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.A1493G:p.Q498R;ENSG00000141452:ENST00000590868:exon14:c.A1349G:p.Q450R;	0.999929867744749	0.996
18	21109675	A	T	18	23529711	y	n	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.A1493T:p.Q498L;C18orf8:NM_001276342:exon14:c.A1349T:p.Q450L;	exonic	ENSG00000141452;ENSG00000141458	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.A1493T:p.Q498L;ENSG00000141452:ENST00000590868:exon14:c.A1349T:p.Q450L;	0.99990758982544	1.0
18	21109676	G	A	18	23529712	y	n	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon16:c.G1494A:p.Q498Q;C18orf8:NM_001276342:exon14:c.G1350A:p.Q450Q;	exonic	ENSG00000141452;ENSG00000141458	synonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.G1494A:p.Q498Q;ENSG00000141452:ENST00000590868:exon14:c.G1350A:p.Q450Q;	0.99996248837694	1.0
18	21109676	G	C	18	23529712	y	n	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.G1494C:p.Q498H;C18orf8:NM_001276342:exon14:c.G1350C:p.Q450H;	exonic	ENSG00000141452;ENSG00000141458	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.G1494C:p.Q498H;ENSG00000141452:ENST00000590868:exon14:c.G1350C:p.Q450H;	0.999994574772087	0.996
18	21109676	G	T	18	23529712	y	n	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon16:c.G1494T:p.Q498H;C18orf8:NM_001276342:exon14:c.G1350T:p.Q450H;	exonic	ENSG00000141452;ENSG00000141458	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon16:c.G1494T:p.Q498H;ENSG00000141452:ENST00000590868:exon14:c.G1350T:p.Q450H;	0.9999801370611	0.998
18	21109677	G	A	18	23529713	y	n	splicing	C18orf8(NM_001276342:exon14:c.1350+1G>A;NM_013326:exon16:c.1494+1G>A)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141452(ENST00000269221:exon16:c.1494+1G>A;ENST00000589215:exon15:c.1409+1G>A;ENST00000590868:exon14:c.1350+1G>A;ENST00000590870:exon16:c.1497+1G>A)	unknown	UNKNOWN	0.999985532734767	0.936
18	21109677	G	C	18	23529713	y	n	splicing	C18orf8(NM_001276342:exon14:c.1350+1G>C;NM_013326:exon16:c.1494+1G>C)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141452(ENST00000269221:exon16:c.1494+1G>C;ENST00000589215:exon15:c.1409+1G>C;ENST00000590868:exon14:c.1350+1G>C;ENST00000590870:exon16:c.1497+1G>C)	unknown	UNKNOWN	0.999985532734767	0.936
18	21109677	G	T	18	23529713	y	n	splicing	C18orf8(NM_001276342:exon14:c.1350+1G>T;NM_013326:exon16:c.1494+1G>T)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141452(ENST00000269221:exon16:c.1494+1G>T;ENST00000589215:exon15:c.1409+1G>T;ENST00000590868:exon14:c.1350+1G>T;ENST00000590870:exon16:c.1497+1G>T)	unknown	UNKNOWN	0.999985532734767	0.936
18	21109678	T	A	18	23529714	y	n	splicing	C18orf8(NM_001276342:exon14:c.1350+2T>A;NM_013326:exon16:c.1494+2T>A)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141452(ENST00000269221:exon16:c.1494+2T>A;ENST00000589215:exon15:c.1409+2T>A;ENST00000590868:exon14:c.1350+2T>A;ENST00000590870:exon16:c.1497+2T>A)	unknown	UNKNOWN	0.999988247793601	0.928
18	21109678	T	C	18	23529714	y	n	splicing	C18orf8(NM_001276342:exon14:c.1350+2T>C;NM_013326:exon16:c.1494+2T>C)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141452(ENST00000269221:exon16:c.1494+2T>C;ENST00000589215:exon15:c.1409+2T>C;ENST00000590868:exon14:c.1350+2T>C;ENST00000590870:exon16:c.1497+2T>C)	unknown	UNKNOWN	0.992783534660112	0.842
18	21109678	T	G	18	23529714	y	n	splicing	C18orf8(NM_001276342:exon14:c.1350+2T>G;NM_013326:exon16:c.1494+2T>G)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141452(ENST00000269221:exon16:c.1494+2T>G;ENST00000589215:exon15:c.1409+2T>G;ENST00000590868:exon14:c.1350+2T>G;ENST00000590870:exon16:c.1497+2T>G)	unknown	UNKNOWN	0.999988247793601	0.928
18	21109679	A	C	18	23529715	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	0.99980799850037	0.992
18	21109679	A	G	18	23529715	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	0.998419107360428	0.97
18	21109679	A	T	18	23529715	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	0.999903915867058	0.992
18	21109680	C	A	18	23529716	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	5.04490013229211E-4	0.186
18	21109680	C	G	18	23529716	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	0.00114817320728177	0.116
18	21109680	C	T	18	23529716	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	0.00160006289242121	0.096
18	21109681	C	A	18	23529717	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.12736331027192E-4	0.004
18	21109681	C	G	18	23529717	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	6.23377637702979E-4	0.026
18	21109681	C	T	18	23529717	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.24425137694629E-4	0.004
18	21109682	T	A	18	23529718	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	0.00478087219623692	0.208
18	21109682	T	C	18	23529718	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	0.00283555215599706	0.238
18	21109682	T	G	18	23529718	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	5.30263295045145E-4	0.348
18	21109683	T	A	18	23529719	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	3.53861234471585E-5	0.002
18	21109683	T	C	18	23529719	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	3.53861234471585E-5	0.002
18	21109683	T	G	18	23529719	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	3.53861234471585E-5	0.002
18	21109684	C	A	18	23529720	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.7217170645907E-4	0.004
18	21109684	C	G	18	23529720	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	1.76833476696924E-4	0.024
18	21109684	C	T	18	23529720	y	n	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	6.89925739660516E-5	0.004
18	21109690	A	C	18	23529726	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	3.29172098833992E-5	0.004
18	21109690	A	G	18	23529726	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	3.29172098833992E-5	0.006
18	21109690	A	T	18	23529726	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	3.29172098833992E-5	0.004
18	21109691	T	A	18	23529727	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	2.45277156108894E-5	0.0
18	21109691	T	C	18	23529727	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	2.45277156108894E-5	0.0
18	21109691	T	G	18	23529727	n	y	intronic	C18orf8	.	.	exonic	ENSG00000141458	unknown	UNKNOWN	2.45277156108894E-5	0.0
18	21109692	C	A	18	23529728	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000593280:exon3:c.87-1G>T)	.	.	1.94405013182015E-5	0.0
18	21109692	C	G	18	23529728	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000593280:exon3:c.87-1G>C)	.	.	1.94405013182015E-5	0.0
18	21109692	C	T	18	23529728	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000593280:exon3:c.87-1G>A)	.	.	1.94405013182015E-5	0.0
18	21109693	T	A	18	23529729	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000593280:exon3:c.87-2A>T)	.	.	6.12082989755293E-5	0.034
18	21109693	T	C	18	23529729	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000593280:exon3:c.87-2A>G)	.	.	2.57868130010587E-5	0.032
18	21109693	T	G	18	23529729	n	y	intronic	C18orf8	.	.	splicing	ENSG00000141458(ENST00000593280:exon3:c.87-2A>C)	.	.	2.57868130010587E-5	0.032
18	21109694	G	A	18	23529730	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.25881015839679E-5	0.06
18	21109694	G	C	18	23529730	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.25881015839679E-5	0.066
18	21109694	G	T	18	23529730	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.25881015839679E-5	0.06
18	21109695	G	A	18	23529731	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.13105871323179E-5	0.0
18	21109695	G	C	18	23529731	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.13105871323179E-5	0.0
18	21109695	G	T	18	23529731	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.13105871323179E-5	0.0
18	21109696	G	A	18	23529732	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.24488743691315E-5	0.104
18	21109696	G	C	18	23529732	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.33833472525359E-5	0.002
18	21109696	G	T	18	23529732	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.35428655471156E-5	0.002
18	21109697	C	A	18	23529733	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.69930370103191E-5	0.0
18	21109697	C	G	18	23529733	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.69930370103191E-5	0.0
18	21109697	C	T	18	23529733	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.69930370103191E-5	0.0
18	21109698	C	A	18	23529734	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.04216853070732E-4	0.018
18	21109698	C	G	18	23529734	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.36567682305367E-5	0.006
18	21109698	C	T	18	23529734	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.04216853070732E-4	0.016
18	21109699	C	A	18	23529735	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.91836965572762E-4	0.008
18	21109699	C	G	18	23529735	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.91836965572762E-4	0.01
18	21109699	C	T	18	23529735	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.38651049164659E-4	0.012
18	21109700	A	C	18	23529736	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.86075475573093E-5	0.0
18	21109700	A	G	18	23529736	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.86075475573093E-5	0.0
18	21109700	A	T	18	23529736	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.06520082605731E-4	0.0
18	21109701	A	C	18	23529737	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.60947442822834E-5	0.0
18	21109701	A	G	18	23529737	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.60947442822834E-5	0.0
18	21109701	A	T	18	23529737	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.68632724264029E-5	0.0
18	21109702	G	A	18	23529738	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.01029157003238E-4	0.0
18	21109702	G	C	18	23529738	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.15380256934019E-5	0.0
18	21109702	G	T	18	23529738	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.15380256934019E-5	0.0
18	21109703	T	A	18	23529739	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00166922796589821	0.022
18	21109703	T	C	18	23529739	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00140830567855165	0.018
18	21109703	T	G	18	23529739	n	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00140830567855165	0.018
18	21109980	T	A	18	23530016	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0106145199925621	0.272
18	21109980	T	C	18	23530016	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.2249809715399E-4	0.048
18	21109980	T	G	18	23530016	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0121715178637658	0.288
18	21109981	T	A	18	23530017	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.649331751506255	0.422
18	21109981	T	C	18	23530017	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0108714994663798	0.152
18	21109981	T	G	18	23530017	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.361629844251374	0.442
18	21109982	T	A	18	23530018	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00109568992831257	0.128
18	21109982	T	C	18	23530018	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.33596820440618E-5	0.002
18	21109982	T	G	18	23530018	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00602914550907387	0.15
18	21109983	T	A	18	23530019	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999545150734356	0.964
18	21109983	T	C	18	23530019	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.33676740024841E-5	0.014
18	21109983	T	G	18	23530019	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00604607411969928	0.086
18	21109984	G	A	18	23530020	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.15254269014404E-4	0.054
18	21109984	G	C	18	23530020	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.6128894829304E-5	0.004
18	21109984	G	T	18	23530020	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.6128894829304E-5	0.002
18	21109985	T	A	18	23530021	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.271656307379871	0.35
18	21109985	T	C	18	23530021	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.71054056205017E-4	0.0
18	21109985	T	G	18	23530021	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0800595255915506	0.266
18	21109986	C	A	18	23530022	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.008238968154375	0.3
18	21109986	C	G	18	23530022	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0027932865574572	0.296
18	21109986	C	T	18	23530022	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.41567294599268E-4	0.014
18	21109987	C	A	18	23530023	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.527333069516234	0.364
18	21109987	C	G	18	23530023	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.867643196461462	0.438
18	21109987	C	T	18	23530023	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0113015223762388	0.034
18	21109988	T	A	18	23530024	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.61228075999277E-4	0.0
18	21109988	T	C	18	23530024	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.63995423123284E-4	0.0
18	21109988	T	G	18	23530024	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.63995423123284E-4	0.0
18	21109989	C	A	18	23530025	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.844058076587035	0.638
18	21109989	C	G	18	23530025	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.998631112047618	0.882
18	21109989	C	T	18	23530025	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00731107562829483	0.142
18	21109990	A	C	18	23530026	y	y	splicing	C18orf8(NM_001276342:exon15:c.1351-2A>C;NM_013326:exon17:c.1495-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1495-2A>C;ENST00000589215:exon16:c.1410-2A>C;ENST00000590868:exon15:c.1351-2A>C;ENST00000590870:exon17:c.1498-2A>C)	.	.	0.999989917668626	0.924
18	21109990	A	G	18	23530026	y	y	splicing	C18orf8(NM_001276342:exon15:c.1351-2A>G;NM_013326:exon17:c.1495-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1495-2A>G;ENST00000589215:exon16:c.1410-2A>G;ENST00000590868:exon15:c.1351-2A>G;ENST00000590870:exon17:c.1498-2A>G)	.	.	0.999989917668626	0.924
18	21109990	A	T	18	23530026	y	y	splicing	C18orf8(NM_001276342:exon15:c.1351-2A>T;NM_013326:exon17:c.1495-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1495-2A>T;ENST00000589215:exon16:c.1410-2A>T;ENST00000590868:exon15:c.1351-2A>T;ENST00000590870:exon17:c.1498-2A>T)	.	.	0.999989917668626	0.924
18	21109991	G	A	18	23530027	y	y	splicing	C18orf8(NM_001276342:exon15:c.1351-1G>A;NM_013326:exon17:c.1495-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1495-1G>A;ENST00000589215:exon16:c.1410-1G>A;ENST00000590868:exon15:c.1351-1G>A;ENST00000590870:exon17:c.1498-1G>A)	.	.	0.999981760802075	0.942
18	21109991	G	C	18	23530027	y	y	splicing	C18orf8(NM_001276342:exon15:c.1351-1G>C;NM_013326:exon17:c.1495-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1495-1G>C;ENST00000589215:exon16:c.1410-1G>C;ENST00000590868:exon15:c.1351-1G>C;ENST00000590870:exon17:c.1498-1G>C)	.	.	0.999981760802075	0.942
18	21109991	G	T	18	23530027	y	y	splicing	C18orf8(NM_001276342:exon15:c.1351-1G>T;NM_013326:exon17:c.1495-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1495-1G>T;ENST00000589215:exon16:c.1410-1G>T;ENST00000590868:exon15:c.1351-1G>T;ENST00000590870:exon17:c.1498-1G>T)	.	.	0.999981760802075	0.942
18	21109992	C	A	18	23530028	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.C1495A:p.H499N;C18orf8:NM_001276342:exon15:c.C1351A:p.H451N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.C1495A:p.H499N;ENSG00000141452:ENST00000590868:exon15:c.C1351A:p.H451N;	0.990340197002274	0.892
18	21109992	C	G	18	23530028	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.C1495G:p.H499D;C18orf8:NM_001276342:exon15:c.C1351G:p.H451D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.C1495G:p.H499D;ENSG00000141452:ENST00000590868:exon15:c.C1351G:p.H451D;	0.986851478862612	0.83
18	21109992	C	T	18	23530028	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.C1495T:p.H499Y;C18orf8:NM_001276342:exon15:c.C1351T:p.H451Y;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.C1495T:p.H499Y;ENSG00000141452:ENST00000590868:exon15:c.C1351T:p.H451Y;	0.995132873052967	0.88
18	21109993	A	C	18	23530029	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.A1496C:p.H499P;C18orf8:NM_001276342:exon15:c.A1352C:p.H451P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.A1496C:p.H499P;ENSG00000141452:ENST00000590868:exon15:c.A1352C:p.H451P;	0.816662142643675	0.818
18	21109993	A	G	18	23530029	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.A1496G:p.H499R;C18orf8:NM_001276342:exon15:c.A1352G:p.H451R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.A1496G:p.H499R;ENSG00000141452:ENST00000590868:exon15:c.A1352G:p.H451R;	0.817928310410899	0.738
18	21109993	A	T	18	23530029	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.A1496T:p.H499L;C18orf8:NM_001276342:exon15:c.A1352T:p.H451L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.A1496T:p.H499L;ENSG00000141452:ENST00000590868:exon15:c.A1352T:p.H451L;	0.832171914305759	0.794
18	21110094	T	A	18	23530130	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.T1597A:p.L533M;C18orf8:NM_001276342:exon15:c.T1453A:p.L485M;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.T1597A:p.L533M;ENSG00000141452:ENST00000590868:exon15:c.T1453A:p.L485M;	9.29233051160917E-5	0.224
18	21110094	T	C	18	23530130	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon17:c.T1597C:p.L533L;C18orf8:NM_001276342:exon15:c.T1453C:p.L485L;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.T1597C:p.L533L;ENSG00000141452:ENST00000590868:exon15:c.T1453C:p.L485L;	4.7250081407851E-5	0.01
18	21110094	T	G	18	23530130	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.T1597G:p.L533V;C18orf8:NM_001276342:exon15:c.T1453G:p.L485V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.T1597G:p.L533V;ENSG00000141452:ENST00000590868:exon15:c.T1453G:p.L485V;	5.84332744813877E-5	0.118
18	21110095	T	A	18	23530131	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon17:c.T1598A:p.L533X;C18orf8:NM_001276342:exon15:c.T1454A:p.L485X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000269221:exon17:c.T1598A:p.L533X;ENSG00000141452:ENST00000590868:exon15:c.T1454A:p.L485X;	0.744092226557994	0.874
18	21110095	T	C	18	23530131	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.T1598C:p.L533S;C18orf8:NM_001276342:exon15:c.T1454C:p.L485S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.T1598C:p.L533S;ENSG00000141452:ENST00000590868:exon15:c.T1454C:p.L485S;	0.939086109309662	0.842
18	21110095	T	G	18	23530131	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.T1598G:p.L533W;C18orf8:NM_001276342:exon15:c.T1454G:p.L485W;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.T1598G:p.L533W;ENSG00000141452:ENST00000590868:exon15:c.T1454G:p.L485W;	0.948197732461483	0.816
18	21110096	G	A	18	23530132	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon17:c.G1599A:p.L533L;C18orf8:NM_001276342:exon15:c.G1455A:p.L485L;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.G1599A:p.L533L;ENSG00000141452:ENST00000590868:exon15:c.G1455A:p.L485L;	0.999978923823959	0.998
18	21110096	G	C	18	23530132	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.G1599C:p.L533F;C18orf8:NM_001276342:exon15:c.G1455C:p.L485F;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.G1599C:p.L533F;ENSG00000141452:ENST00000590868:exon15:c.G1455C:p.L485F;	0.999995282342115	1.0
18	21110096	G	T	18	23530132	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon17:c.G1599T:p.L533F;C18orf8:NM_001276342:exon15:c.G1455T:p.L485F;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon17:c.G1599T:p.L533F;ENSG00000141452:ENST00000590868:exon15:c.G1455T:p.L485F;	0.999983973454413	1.0
18	21110097	G	A	18	23530133	y	y	splicing	C18orf8(NM_001276342:exon15:c.1455+1G>A;NM_013326:exon17:c.1599+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1599+1G>A;ENST00000589215:exon16:c.1514+1G>A;ENST00000590868:exon15:c.1455+1G>A;ENST00000590870:exon17:c.1602+1G>A)	.	.	0.999979422316293	0.948
18	21110097	G	C	18	23530133	y	y	splicing	C18orf8(NM_001276342:exon15:c.1455+1G>C;NM_013326:exon17:c.1599+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1599+1G>C;ENST00000589215:exon16:c.1514+1G>C;ENST00000590868:exon15:c.1455+1G>C;ENST00000590870:exon17:c.1602+1G>C)	.	.	0.999971347399224	0.946
18	21110097	G	T	18	23530133	y	y	splicing	C18orf8(NM_001276342:exon15:c.1455+1G>T;NM_013326:exon17:c.1599+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1599+1G>T;ENST00000589215:exon16:c.1514+1G>T;ENST00000590868:exon15:c.1455+1G>T;ENST00000590870:exon17:c.1602+1G>T)	.	.	0.999979422316293	0.948
18	21110098	T	A	18	23530134	y	y	splicing	C18orf8(NM_001276342:exon15:c.1455+2T>A;NM_013326:exon17:c.1599+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1599+2T>A;ENST00000589215:exon16:c.1514+2T>A;ENST00000590868:exon15:c.1455+2T>A;ENST00000590870:exon17:c.1602+2T>A)	.	.	0.999985223844491	0.938
18	21110098	T	C	18	23530134	y	y	splicing	C18orf8(NM_001276342:exon15:c.1455+2T>C;NM_013326:exon17:c.1599+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1599+2T>C;ENST00000589215:exon16:c.1514+2T>C;ENST00000590868:exon15:c.1455+2T>C;ENST00000590870:exon17:c.1602+2T>C)	.	.	0.999602313642685	0.88
18	21110098	T	G	18	23530134	y	y	splicing	C18orf8(NM_001276342:exon15:c.1455+2T>G;NM_013326:exon17:c.1599+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon17:c.1599+2T>G;ENST00000589215:exon16:c.1514+2T>G;ENST00000590868:exon15:c.1455+2T>G;ENST00000590870:exon17:c.1602+2T>G)	.	.	0.999961870286175	0.936
18	21110099	A	C	18	23530135	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999646798735989	0.696
18	21110099	A	G	18	23530135	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.968191694021625	0.598
18	21110099	A	T	18	23530135	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999825209201623	0.724
18	21110100	T	A	18	23530136	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.76870441802658E-5	0.012
18	21110100	T	C	18	23530136	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.29409940438522E-5	0.004
18	21110100	T	G	18	23530136	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.37171033270224E-4	0.114
18	21110101	G	A	18	23530137	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999970037779044	0.994
18	21110101	G	C	18	23530137	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999948918580578	0.982
18	21110101	G	T	18	23530137	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999927723757058	0.988
18	21110102	C	A	18	23530138	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.75743408533013E-4	0.012
18	21110102	C	G	18	23530138	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.86474903199043E-5	0.024
18	21110102	C	T	18	23530138	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.03640525457558E-5	0.002
18	21110103	A	C	18	23530139	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.79655900919744E-4	0.028
18	21110103	A	G	18	23530139	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.43778806074849E-4	0.028
18	21110103	A	T	18	23530139	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.34507585241016E-4	0.1
18	21110104	T	A	18	23530140	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.34282388770951E-5	0.022
18	21110104	T	C	18	23530140	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.96304298361906E-5	0.0
18	21110104	T	G	18	23530140	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.96304298361906E-5	0.016
18	21110181	A	C	18	23530217	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.85892088628007E-5	0.04
18	21110181	A	G	18	23530217	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.97353901397116	0.936
18	21110181	A	T	18	23530217	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.85892088628007E-5	0.04
18	21110182	A	C	18	23530218	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.96362767612027E-5	0.0
18	21110182	A	G	18	23530218	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.851773898768069	0.808
18	21110182	A	T	18	23530218	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.96362767612027E-5	0.058
18	21110183	T	A	18	23530219	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999807259627331	0.966
18	21110183	T	C	18	23530219	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.95221742508541E-4	0.074
18	21110183	T	G	18	23530219	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99972881328947	0.972
18	21110184	G	A	18	23530220	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.78158202965095E-4	0.024
18	21110184	G	C	18	23530220	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.18892942406909E-5	0.024
18	21110184	G	T	18	23530220	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.18892942406909E-5	0.024
18	21110185	T	A	18	23530221	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0524119950892996	0.39
18	21110185	T	C	18	23530221	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.19302407111616E-4	0.046
18	21110185	T	G	18	23530221	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0458225100830758	0.384
18	21110186	C	A	18	23530222	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00250483307735283	0.136
18	21110186	C	G	18	23530222	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00582613411211633	0.232
18	21110186	C	T	18	23530222	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.74480241737554E-4	0.038
18	21110187	T	A	18	23530223	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.666544937830299	0.67
18	21110187	T	C	18	23530223	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00112261237525138	0.072
18	21110187	T	G	18	23530223	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.894674857922357	0.688
18	21110188	T	A	18	23530224	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.871884330087417	0.69
18	21110188	T	C	18	23530224	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00421844365166399	0.218
18	21110188	T	G	18	23530224	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.895976562399085	0.648
18	21110189	T	A	18	23530225	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.2317673293238E-5	0.012
18	21110189	T	C	18	23530225	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.54753329468397E-5	0.012
18	21110189	T	G	18	23530225	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.22162245162761E-5	0.012
18	21110190	C	A	18	23530226	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.760029191150498	0.804
18	21110190	C	G	18	23530226	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.995987920736324	0.734
18	21110190	C	T	18	23530226	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00101024208861505	0.158
18	21110191	A	C	18	23530227	y	y	splicing	C18orf8(NM_001276342:exon16:c.1456-2A>C;NM_013326:exon18:c.1600-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1600-2A>C;ENST00000589215:exon17:c.1515-2A>C;ENST00000590868:exon16:c.1456-2A>C;ENST00000590870:exon18:c.1603-2A>C)	.	.	0.999952590261929	0.912
18	21110191	A	G	18	23530227	y	y	splicing	C18orf8(NM_001276342:exon16:c.1456-2A>G;NM_013326:exon18:c.1600-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1600-2A>G;ENST00000589215:exon17:c.1515-2A>G;ENST00000590868:exon16:c.1456-2A>G;ENST00000590870:exon18:c.1603-2A>G)	.	.	0.999952590261929	0.912
18	21110191	A	T	18	23530227	y	y	splicing	C18orf8(NM_001276342:exon16:c.1456-2A>T;NM_013326:exon18:c.1600-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1600-2A>T;ENST00000589215:exon17:c.1515-2A>T;ENST00000590868:exon16:c.1456-2A>T;ENST00000590870:exon18:c.1603-2A>T)	.	.	0.999952590261929	0.912
18	21110192	G	A	18	23530228	y	y	splicing	C18orf8(NM_001276342:exon16:c.1456-1G>A;NM_013326:exon18:c.1600-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1600-1G>A;ENST00000589215:exon17:c.1515-1G>A;ENST00000590868:exon16:c.1456-1G>A;ENST00000590870:exon18:c.1603-1G>A)	.	.	0.999981145153977	0.914
18	21110192	G	C	18	23530228	y	y	splicing	C18orf8(NM_001276342:exon16:c.1456-1G>C;NM_013326:exon18:c.1600-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1600-1G>C;ENST00000589215:exon17:c.1515-1G>C;ENST00000590868:exon16:c.1456-1G>C;ENST00000590870:exon18:c.1603-1G>C)	.	.	0.999981145153977	0.904
18	21110192	G	T	18	23530228	y	y	splicing	C18orf8(NM_001276342:exon16:c.1456-1G>T;NM_013326:exon18:c.1600-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1600-1G>T;ENST00000589215:exon17:c.1515-1G>T;ENST00000590868:exon16:c.1456-1G>T;ENST00000590870:exon18:c.1603-1G>T)	.	.	0.999981145153977	0.904
18	21110193	G	A	18	23530229	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.G1600A:p.A534T;C18orf8:NM_001276342:exon16:c.G1456A:p.A486T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.G1600A:p.A534T;ENSG00000141452:ENST00000590868:exon16:c.G1456A:p.A486T;	0.998737514865684	0.93
18	21110193	G	C	18	23530229	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.G1600C:p.A534P;C18orf8:NM_001276342:exon16:c.G1456C:p.A486P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.G1600C:p.A534P;ENSG00000141452:ENST00000590868:exon16:c.G1456C:p.A486P;	0.999660755096363	0.922
18	21110193	G	T	18	23530229	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.G1600T:p.A534S;C18orf8:NM_001276342:exon16:c.G1456T:p.A486S;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.G1600T:p.A534S;ENSG00000141452:ENST00000590868:exon16:c.G1456T:p.A486S;	0.999693394535559	0.952
18	21110194	C	A	18	23530230	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.C1601A:p.A534D;C18orf8:NM_001276342:exon16:c.C1457A:p.A486D;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.C1601A:p.A534D;ENSG00000141452:ENST00000590868:exon16:c.C1457A:p.A486D;	0.988187220996545	0.922
18	21110194	C	G	18	23530230	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.C1601G:p.A534G;C18orf8:NM_001276342:exon16:c.C1457G:p.A486G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.C1601G:p.A534G;ENSG00000141452:ENST00000590868:exon16:c.C1457G:p.A486G;	0.988015702533422	0.856
18	21110194	C	T	18	23530230	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.C1601T:p.A534V;C18orf8:NM_001276342:exon16:c.C1457T:p.A486V;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.C1601T:p.A534V;ENSG00000141452:ENST00000590868:exon16:c.C1457T:p.A486V;	0.988187220996545	0.922
18	21110259	A	C	18	23530295	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.A1666C:p.K556Q;C18orf8:NM_001276342:exon16:c.A1522C:p.K508Q;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.A1666C:p.K556Q;ENSG00000141452:ENST00000590868:exon16:c.A1522C:p.K508Q;	0.803133416089577	0.748
18	21110259	A	G	18	23530295	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.A1666G:p.K556E;C18orf8:NM_001276342:exon16:c.A1522G:p.K508E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.A1666G:p.K556E;ENSG00000141452:ENST00000590868:exon16:c.A1522G:p.K508E;	0.830859123621159	0.846
18	21110259	A	T	18	23530295	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon18:c.A1666T:p.K556X;C18orf8:NM_001276342:exon16:c.A1522T:p.K508X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000269221:exon18:c.A1666T:p.K556X;ENSG00000141452:ENST00000590868:exon16:c.A1522T:p.K508X;	0.962601876182671	0.904
18	21110260	A	C	18	23530296	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.A1667C:p.K556T;C18orf8:NM_001276342:exon16:c.A1523C:p.K508T;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.A1667C:p.K556T;ENSG00000141452:ENST00000590868:exon16:c.A1523C:p.K508T;	0.997171106325883	0.946
18	21110260	A	G	18	23530296	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.A1667G:p.K556R;C18orf8:NM_001276342:exon16:c.A1523G:p.K508R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.A1667G:p.K556R;ENSG00000141452:ENST00000590868:exon16:c.A1523G:p.K508R;	0.999697848411178	0.992
18	21110260	A	T	18	23530296	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.A1667T:p.K556M;C18orf8:NM_001276342:exon16:c.A1523T:p.K508M;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.A1667T:p.K556M;ENSG00000141452:ENST00000590868:exon16:c.A1523T:p.K508M;	0.999888533396532	0.988
18	21110261	G	A	18	23530297	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon18:c.G1668A:p.K556K;C18orf8:NM_001276342:exon16:c.G1524A:p.K508K;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.G1668A:p.K556K;ENSG00000141452:ENST00000590868:exon16:c.G1524A:p.K508K;	0.999775143167739	0.996
18	21110261	G	C	18	23530297	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.G1668C:p.K556N;C18orf8:NM_001276342:exon16:c.G1524C:p.K508N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.G1668C:p.K556N;ENSG00000141452:ENST00000590868:exon16:c.G1524C:p.K508N;	0.999966189089057	0.932
18	21110261	G	T	18	23530297	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon18:c.G1668T:p.K556N;C18orf8:NM_001276342:exon16:c.G1524T:p.K508N;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon18:c.G1668T:p.K556N;ENSG00000141452:ENST00000590868:exon16:c.G1524T:p.K508N;	0.999949566636371	0.966
18	21110262	G	A	18	23530298	y	y	splicing	C18orf8(NM_001276342:exon16:c.1524+1G>A;NM_013326:exon18:c.1668+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1668+1G>A;ENST00000589215:exon17:c.1583+1G>A;ENST00000590868:exon16:c.1524+1G>A;ENST00000590870:exon18:c.1671+1G>A)	.	.	0.999985532734767	0.936
18	21110262	G	C	18	23530298	y	y	splicing	C18orf8(NM_001276342:exon16:c.1524+1G>C;NM_013326:exon18:c.1668+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1668+1G>C;ENST00000589215:exon17:c.1583+1G>C;ENST00000590868:exon16:c.1524+1G>C;ENST00000590870:exon18:c.1671+1G>C)	.	.	0.999985532734767	0.936
18	21110262	G	T	18	23530298	y	y	splicing	C18orf8(NM_001276342:exon16:c.1524+1G>T;NM_013326:exon18:c.1668+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1668+1G>T;ENST00000589215:exon17:c.1583+1G>T;ENST00000590868:exon16:c.1524+1G>T;ENST00000590870:exon18:c.1671+1G>T)	.	.	0.999985532734767	0.936
18	21110263	T	A	18	23530299	y	y	splicing	C18orf8(NM_001276342:exon16:c.1524+2T>A;NM_013326:exon18:c.1668+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1668+2T>A;ENST00000589215:exon17:c.1583+2T>A;ENST00000590868:exon16:c.1524+2T>A;ENST00000590870:exon18:c.1671+2T>A)	.	.	0.999988247793601	0.928
18	21110263	T	C	18	23530299	y	y	splicing	C18orf8(NM_001276342:exon16:c.1524+2T>C;NM_013326:exon18:c.1668+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1668+2T>C;ENST00000589215:exon17:c.1583+2T>C;ENST00000590868:exon16:c.1524+2T>C;ENST00000590870:exon18:c.1671+2T>C)	.	.	0.992783534660112	0.85
18	21110263	T	G	18	23530299	y	y	splicing	C18orf8(NM_001276342:exon16:c.1524+2T>G;NM_013326:exon18:c.1668+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon18:c.1668+2T>G;ENST00000589215:exon17:c.1583+2T>G;ENST00000590868:exon16:c.1524+2T>G;ENST00000590870:exon18:c.1671+2T>G)	.	.	0.999988247793601	0.928
18	21110264	A	C	18	23530300	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999496819518336	0.964
18	21110264	A	G	18	23530300	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.99891952390746	0.914
18	21110264	A	T	18	23530300	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999863543349594	0.906
18	21110265	A	C	18	23530301	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.374052134897398	0.37
18	21110265	A	G	18	23530301	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.222639114918913	0.35
18	21110265	A	T	18	23530301	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.22547720591342	0.312
18	21110266	C	A	18	23530302	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.47792683836023E-5	0.006
18	21110266	C	G	18	23530302	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.47792683836023E-5	0.004
18	21110266	C	T	18	23530302	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.47792683836023E-5	0.0
18	21110267	T	A	18	23530303	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.80030321258194E-4	0.052
18	21110267	T	C	18	23530303	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.43951925933907E-4	0.086
18	21110267	T	G	18	23530303	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.77900017333505E-4	0.09
18	21110268	C	A	18	23530304	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.45277156108894E-5	0.0
18	21110268	C	G	18	23530304	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.44823015886644E-5	0.0
18	21110268	C	T	18	23530304	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.21388336692939E-5	0.0
18	21110269	T	A	18	23530305	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.46619449921589E-5	0.0
18	21110269	T	C	18	23530305	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.59660858139777E-5	0.0
18	21110269	T	G	18	23530305	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.63318870080799E-5	0.0
18	21110339	C	A	18	23530375	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00135235231886974	0.042
18	21110339	C	G	18	23530375	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00140015125555204	0.068
18	21110339	C	T	18	23530375	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.12736331027192E-4	0.0
18	21110340	C	A	18	23530376	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0058264560217185	0.076
18	21110340	C	G	18	23530376	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00370651167342021	0.098
18	21110340	C	T	18	23530376	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.23670744562471E-4	0.018
18	21110341	T	A	18	23530377	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0234996104099394	0.478
18	21110341	T	C	18	23530377	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.45112490299725E-4	0.064
18	21110341	T	G	18	23530377	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0128110979291156	0.516
18	21110342	T	A	18	23530378	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00498524855314422	0.194
18	21110342	T	C	18	23530378	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	7.48293208623238E-5	0.008
18	21110342	T	G	18	23530378	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00174026517921015	0.146
18	21110343	A	C	18	23530379	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.03359245426808E-5	0.032
18	21110343	A	G	18	23530379	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.03359245426808E-5	0.032
18	21110343	A	T	18	23530379	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	3.03359245426808E-5	0.032
18	21110344	C	A	18	23530380	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00112651545676833	0.098
18	21110344	C	G	18	23530380	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.996012552539841	0.958
18	21110344	C	T	18	23530380	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.89925739660516E-5	0.006
18	21110345	T	A	18	23530381	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999822492689216	0.99
18	21110345	T	C	18	23530381	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.78897801198463E-4	0.04
18	21110345	T	G	18	23530381	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.0537149366993139	0.478
18	21110346	G	A	18	23530382	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.1888095083903E-5	0.008
18	21110346	G	C	18	23530382	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.14301101535901E-5	0.002
18	21110346	G	T	18	23530382	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.47039489069415E-5	0.024
18	21110347	C	A	18	23530383	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	4.47550917913978E-5	0.0
18	21110347	C	G	18	23530383	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.54808189436898E-4	0.06
18	21110347	C	T	18	23530383	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	5.95714022294464E-5	0.002
18	21110348	T	A	18	23530384	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.00583388250239181	0.198
18	21110348	T	C	18	23530384	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.77993525610891E-5	0.018
18	21110348	T	G	18	23530384	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.283638284663019	0.52
18	21110349	A	C	18	23530385	y	y	splicing	C18orf8(NM_013326:exon19:c.1669-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1669-2A>C;ENST00000590868:exon17:c.1525-2A>C;ENST00000590870:exon19:c.1672-2A>C)	.	.	0.999970776446336	0.94
18	21110349	A	G	18	23530385	y	y	splicing	C18orf8(NM_013326:exon19:c.1669-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1669-2A>G;ENST00000590868:exon17:c.1525-2A>G;ENST00000590870:exon19:c.1672-2A>G)	.	.	0.999970776446336	0.94
18	21110349	A	T	18	23530385	y	y	splicing	C18orf8(NM_013326:exon19:c.1669-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1669-2A>T;ENST00000590868:exon17:c.1525-2A>T;ENST00000590870:exon19:c.1672-2A>T)	.	.	0.999955202219928	0.94
18	21110350	G	A	18	23530386	y	y	splicing	C18orf8(NM_013326:exon19:c.1669-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1669-1G>A;ENST00000590868:exon17:c.1525-1G>A;ENST00000590870:exon19:c.1672-1G>A)	.	.	0.999944340032687	0.92
18	21110350	G	C	18	23530386	y	y	splicing	C18orf8(NM_013326:exon19:c.1669-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1669-1G>C;ENST00000590868:exon17:c.1525-1G>C;ENST00000590870:exon19:c.1672-1G>C)	.	.	0.999944853213407	0.932
18	21110350	G	T	18	23530386	y	y	splicing	C18orf8(NM_013326:exon19:c.1669-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1669-1G>T;ENST00000590868:exon17:c.1525-1G>T;ENST00000590870:exon19:c.1672-1G>T)	.	.	0.999944853213407	0.924
18	21110351	C	A	18	23530387	y	y	exonic	C18orf8	synonymous SNV	C18orf8:NM_013326:exon19:c.C1669A:p.R557R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.C1669A:p.R557R;ENSG00000141452:ENST00000590868:exon17:c.C1525A:p.R509R;	1.06635945492274E-4	0.03
18	21110351	C	G	18	23530387	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.C1669G:p.R557G;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.C1669G:p.R557G;ENSG00000141452:ENST00000590868:exon17:c.C1525G:p.R509G;	6.19846087340445E-4	0.16
18	21110351	C	T	18	23530387	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_013326:exon19:c.C1669T:p.R557X;	exonic	ENSG00000141452	stopgain SNV	ENSG00000141452:ENST00000269221:exon19:c.C1669T:p.R557X;ENSG00000141452:ENST00000590868:exon17:c.C1525T:p.R509X;	0.0833366204718008	0.35
18	21110352	G	A	18	23530388	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.G1670A:p.R557Q;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.G1670A:p.R557Q;ENSG00000141452:ENST00000590868:exon17:c.G1526A:p.R509Q;	0.988992728930762	0.916
18	21110352	G	C	18	23530388	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.G1670C:p.R557P;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.G1670C:p.R557P;ENSG00000141452:ENST00000590868:exon17:c.G1526C:p.R509P;	0.985464553004571	0.852
18	21110352	G	T	18	23530388	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.G1670T:p.R557L;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.G1670T:p.R557L;ENSG00000141452:ENST00000590868:exon17:c.G1526T:p.R509L;	0.984291262377701	0.842
18	21110574	C	A	18	23530610	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.C1892A:p.P631Q;C18orf8:NM_001276342:exon17:c.C1624A:p.Q542K;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.C1892A:p.P631Q;ENSG00000141452:ENST00000590868:exon17:c.C1748A:p.P583Q;	0.994463269283841	0.92
18	21110574	C	G	18	23530610	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.C1892G:p.P631R;C18orf8:NM_001276342:exon17:c.C1624G:p.Q542E;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.C1892G:p.P631R;ENSG00000141452:ENST00000590868:exon17:c.C1748G:p.P583R;	0.986152223221829	0.86
18	21110574	C	T	18	23530610	y	y	exonic	C18orf8	stopgain SNV	C18orf8:NM_001276342:exon17:c.C1624T:p.Q542X;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.C1892T:p.P631L;ENSG00000141452:ENST00000590868:exon17:c.C1748T:p.P583L;	0.997614721945239	0.92
18	21110575	A	C	18	23530611	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_001276342:exon17:c.A1625C:p.Q542P;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.A1893C:p.P631P;ENSG00000141452:ENST00000590868:exon17:c.A1749C:p.P583P;	0.82992891875034	0.706
18	21110575	A	G	18	23530611	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_001276342:exon17:c.A1625G:p.Q542R;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.A1893G:p.P631P;ENSG00000141452:ENST00000590868:exon17:c.A1749G:p.P583P;	0.952178612478089	0.766
18	21110575	A	T	18	23530611	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_001276342:exon17:c.A1625T:p.Q542L;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.A1893T:p.P631P;ENSG00000141452:ENST00000590868:exon17:c.A1749T:p.P583P;	0.954516512288749	0.802
18	21110576	G	A	18	23530612	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.G1894A:p.G632R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.G1894A:p.G632R;ENSG00000141452:ENST00000590868:exon17:c.G1750A:p.G584R;	0.999954558891481	0.988
18	21110576	G	C	18	23530612	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.G1894C:p.G632R;C18orf8:NM_001276342:exon17:c.G1626C:p.Q542H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.G1894C:p.G632R;ENSG00000141452:ENST00000590868:exon17:c.G1750C:p.G584R;	0.999995982853307	1.0
18	21110576	G	T	18	23530612	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon19:c.G1894T:p.G632W;C18orf8:NM_001276342:exon17:c.G1626T:p.Q542H;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon19:c.G1894T:p.G632W;ENSG00000141452:ENST00000590868:exon17:c.G1750T:p.G584W;	0.999935841796072	0.986
18	21110577	G	A	18	23530613	y	y	splicing	C18orf8(NM_001276342:exon17:c.1626+1G>A;NM_013326:exon19:c.1894+1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1894+1G>A;ENST00000589215:exon18:c.1685+1G>A;ENST00000590868:exon17:c.1750+1G>A;ENST00000590870:exon19:c.1897+1G>A)	.	.	0.999990361384395	0.938
18	21110577	G	C	18	23530613	y	y	splicing	C18orf8(NM_001276342:exon17:c.1626+1G>C;NM_013326:exon19:c.1894+1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1894+1G>C;ENST00000589215:exon18:c.1685+1G>C;ENST00000590868:exon17:c.1750+1G>C;ENST00000590870:exon19:c.1897+1G>C)	.	.	0.999990361384395	0.938
18	21110577	G	T	18	23530613	y	y	splicing	C18orf8(NM_001276342:exon17:c.1626+1G>T;NM_013326:exon19:c.1894+1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1894+1G>T;ENST00000589215:exon18:c.1685+1G>T;ENST00000590868:exon17:c.1750+1G>T;ENST00000590870:exon19:c.1897+1G>T)	.	.	0.999990361384395	0.938
18	21110578	T	A	18	23530614	y	y	splicing	C18orf8(NM_001276342:exon17:c.1626+2T>A;NM_013326:exon19:c.1894+2T>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1894+2T>A;ENST00000589215:exon18:c.1685+2T>A;ENST00000590868:exon17:c.1750+2T>A;ENST00000590870:exon19:c.1897+2T>A)	.	.	0.999988247793601	0.932
18	21110578	T	C	18	23530614	y	y	splicing	C18orf8(NM_001276342:exon17:c.1626+2T>C;NM_013326:exon19:c.1894+2T>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1894+2T>C;ENST00000589215:exon18:c.1685+2T>C;ENST00000590868:exon17:c.1750+2T>C;ENST00000590870:exon19:c.1897+2T>C)	.	.	0.999929727175276	0.862
18	21110578	T	G	18	23530614	y	y	splicing	C18orf8(NM_001276342:exon17:c.1626+2T>G;NM_013326:exon19:c.1894+2T>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon19:c.1894+2T>G;ENST00000589215:exon18:c.1685+2T>G;ENST00000590868:exon17:c.1750+2T>G;ENST00000590870:exon19:c.1897+2T>G)	.	.	0.999988247793601	0.932
18	21110579	G	A	18	23530615	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	2.04353650666994E-4	0.004
18	21110579	G	C	18	23530615	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.113862517286152	0.418
18	21110579	G	T	18	23530615	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.145563261564867	0.45
18	21110580	A	C	18	23530616	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.132527069477496	0.25
18	21110580	A	G	18	23530616	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.701971998501926	0.48
18	21110580	A	T	18	23530616	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.950522389147919	0.484
18	21110581	G	A	18	23530617	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999833824749883	0.896
18	21110581	G	C	18	23530617	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999543122669631	0.868
18	21110581	G	T	18	23530617	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	0.999697421223417	0.876
18	21110582	A	C	18	23530618	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.2466282736431E-4	0.022
18	21110582	A	G	18	23530618	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.2466282736431E-4	0.004
18	21110582	A	T	18	23530618	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.2466282736431E-4	0.004
18	21110583	A	C	18	23530619	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	1.05760337461804E-4	0.02
18	21110583	A	G	18	23530619	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.55698692551E-5	0.02
18	21110583	A	T	18	23530619	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	9.37447800655777E-5	0.028
18	21110584	T	A	18	23530620	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.64677722929178E-5	0.0
18	21110584	T	C	18	23530620	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	6.64677722929178E-5	0.002
18	21110584	T	G	18	23530620	y	y	intronic	C18orf8	.	.	intronic	ENSG00000141452;ENSG00000141458	.	.	8.40334684672735E-5	0.0
18	21111577	C	A	18	23531613	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	1.0369779367185E-4	0.036
18	21111577	C	G	18	23531613	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	1.23093205151E-4	0.038
18	21111577	C	T	18	23531613	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	6.07675666564794E-5	0.036
18	21111578	T	A	18	23531614	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.0103592165913133	0.328
18	21111578	T	C	18	23531614	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.00446988359579823	0.096
18	21111578	T	G	18	23531614	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.0132874726583305	0.348
18	21111579	T	A	18	23531615	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.00700275742158411	0.12
18	21111579	T	C	18	23531615	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	1.25679263643157E-4	0.002
18	21111579	T	G	18	23531615	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.0095706821003317	0.106
18	21111580	C	A	18	23531616	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	7.82038380660897E-4	0.028
18	21111580	C	G	18	23531616	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	3.81687209960934E-4	0.028
18	21111580	C	T	18	23531616	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	1.63995423123284E-4	0.0
18	21111581	C	A	18	23531617	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	5.92382047498114E-4	0.052
18	21111581	C	G	18	23531617	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	2.21874223554352E-4	0.01
18	21111581	C	T	18	23531617	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	5.03640525457558E-5	0.002
18	21111582	T	A	18	23531618	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	4.56516899099093E-4	0.034
18	21111582	T	C	18	23531618	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	7.3889270847944E-5	0.008
18	21111582	T	G	18	23531618	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	4.87711996391006E-4	0.014
18	21111583	T	A	18	23531619	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.00296427305516235	0.058
18	21111583	T	C	18	23531619	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	1.26782606832611E-4	0.002
18	21111583	T	G	18	23531619	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.00519176578261147	0.116
18	21111584	T	A	18	23531620	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.00444141646131415	0.196
18	21111584	T	C	18	23531620	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	1.95453865529119E-4	0.026
18	21111584	T	G	18	23531620	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.0121063235855709	0.202
18	21111585	C	A	18	23531621	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	2.07900060587465E-5	0.01
18	21111585	C	G	18	23531621	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	2.27810777106017E-5	0.008
18	21111585	C	T	18	23531621	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	1.88014054966508E-5	0.0
18	21111586	T	A	18	23531622	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	6.70030257737217E-4	0.084
18	21111586	T	C	18	23531622	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	3.76150697327955E-5	0.0
18	21111586	T	G	18	23531622	y	y	UTR3	NPC1	.	.	UTR3	ENSG00000141458	.	.	0.562827163878198	0.636
18	21111587	A	C	18	23531623	y	y	splicing	C18orf8(NM_001276342:exon18:c.1627-2A>C;NM_013326:exon20:c.1895-2A>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon20:c.1895-2A>C;ENST00000589215:exon19:c.1686-2A>C;ENST00000590868:exon18:c.1751-2A>C;ENST00000590870:exon20:c.1898-2A>C)	.	.	0.999988247793601	0.926
18	21111587	A	G	18	23531623	y	y	splicing	C18orf8(NM_001276342:exon18:c.1627-2A>G;NM_013326:exon20:c.1895-2A>G)	.	.	splicing	ENSG00000141452(ENST00000269221:exon20:c.1895-2A>G;ENST00000589215:exon19:c.1686-2A>G;ENST00000590868:exon18:c.1751-2A>G;ENST00000590870:exon20:c.1898-2A>G)	.	.	0.999988247793601	0.926
18	21111587	A	T	18	23531623	y	y	splicing	C18orf8(NM_001276342:exon18:c.1627-2A>T;NM_013326:exon20:c.1895-2A>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon20:c.1895-2A>T;ENST00000589215:exon19:c.1686-2A>T;ENST00000590868:exon18:c.1751-2A>T;ENST00000590870:exon20:c.1898-2A>T)	.	.	0.999988247793601	0.914
18	21111588	G	A	18	23531624	y	y	splicing	C18orf8(NM_001276342:exon18:c.1627-1G>A;NM_013326:exon20:c.1895-1G>A)	.	.	splicing	ENSG00000141452(ENST00000269221:exon20:c.1895-1G>A;ENST00000589215:exon19:c.1686-1G>A;ENST00000590868:exon18:c.1751-1G>A;ENST00000590870:exon20:c.1898-1G>A)	.	.	0.999990361384395	0.936
18	21111588	G	C	18	23531624	y	y	splicing	C18orf8(NM_001276342:exon18:c.1627-1G>C;NM_013326:exon20:c.1895-1G>C)	.	.	splicing	ENSG00000141452(ENST00000269221:exon20:c.1895-1G>C;ENST00000589215:exon19:c.1686-1G>C;ENST00000590868:exon18:c.1751-1G>C;ENST00000590870:exon20:c.1898-1G>C)	.	.	0.999990361384395	0.936
18	21111588	G	T	18	23531624	y	y	splicing	C18orf8(NM_001276342:exon18:c.1627-1G>T;NM_013326:exon20:c.1895-1G>T)	.	.	splicing	ENSG00000141452(ENST00000269221:exon20:c.1895-1G>T;ENST00000589215:exon19:c.1686-1G>T;ENST00000590868:exon18:c.1751-1G>T;ENST00000590870:exon20:c.1898-1G>T)	.	.	0.999990361384395	0.936
18	21111589	G	A	18	23531625	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon20:c.G1895A:p.G632E;C18orf8:NM_001276342:exon18:c.G1627A:p.G543R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon20:c.G1895A:p.G632E;ENSG00000141452:ENST00000590868:exon18:c.G1751A:p.G584E;	0.999329052499394	0.93
18	21111589	G	C	18	23531625	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon20:c.G1895C:p.G632A;C18orf8:NM_001276342:exon18:c.G1627C:p.G543R;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon20:c.G1895C:p.G632A;ENSG00000141452:ENST00000590868:exon18:c.G1751C:p.G584A;	0.999702106215532	0.96
18	21111589	G	T	18	23531625	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_013326:exon20:c.G1895T:p.G632V;C18orf8:NM_001276342:exon18:c.G1627T:p.G543W;	exonic	ENSG00000141452	nonsynonymous SNV	ENSG00000141452:ENST00000269221:exon20:c.G1895T:p.G632V;ENSG00000141452:ENST00000590868:exon18:c.G1751T:p.G584V;	0.999738805097383	0.98
18	21111590	G	A	18	23531626	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_001276342:exon18:c.G1628A:p.G543E;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon20:c.G1896A:p.G632G;ENSG00000141452:ENST00000590868:exon18:c.G1752A:p.G584G;	8.49702646665041E-5	0.04
18	21111590	G	C	18	23531626	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_001276342:exon18:c.G1628C:p.G543A;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon20:c.G1896C:p.G632G;ENSG00000141452:ENST00000590868:exon18:c.G1752C:p.G584G;	8.49702646665041E-5	0.004
18	21111590	G	T	18	23531626	y	y	exonic	C18orf8	nonsynonymous SNV	C18orf8:NM_001276342:exon18:c.G1628T:p.G543V;	exonic	ENSG00000141452	synonymous SNV	ENSG00000141452:ENST00000269221:exon20:c.G1896T:p.G632G;ENSG00000141452:ENST00000590868:exon18:c.G1752T:p.G584G;	8.49702646665041E-5	0.006
18	21112247	C	A	18	23532283	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon25:c.G3756T:p.G1252G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon18:c.G2802T:p.G934G;ENSG00000141458:ENST00000269228:exon25:c.G3756T:p.G1252G;	1.46004206284423E-5	0.0
18	21112247	C	G	18	23532283	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon25:c.G3756C:p.G1252G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon18:c.G2802C:p.G934G;ENSG00000141458:ENST00000269228:exon25:c.G3756C:p.G1252G;	1.52276608712576E-5	0.004
18	21112247	C	T	18	23532283	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon25:c.G3756A:p.G1252G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon18:c.G2802A:p.G934G;ENSG00000141458:ENST00000269228:exon25:c.G3756A:p.G1252G;	2.43183324661371E-5	0.0
18	21112248	C	A	18	23532284	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon25:c.G3755T:p.G1252V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon18:c.G2801T:p.G934V;ENSG00000141458:ENST00000269228:exon25:c.G3755T:p.G1252V;	0.990713051286876	0.934
18	21112248	C	G	18	23532284	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon25:c.G3755C:p.G1252A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon18:c.G2801C:p.G934A;ENSG00000141458:ENST00000269228:exon25:c.G3755C:p.G1252A;	0.948458671162391	0.788
18	21112248	C	T	18	23532284	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon25:c.G3755A:p.G1252E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon18:c.G2801A:p.G934E;ENSG00000141458:ENST00000269228:exon25:c.G3755A:p.G1252E;	0.883694930595012	0.68
18	21112249	C	A	18	23532285	y	y	splicing	NPC1(NM_000271:exon26:c.3755-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon26:c.3755-1G>T;ENST00000412552:exon19:c.2801-1G>T;ENST00000591051:exon19:c.2833-1G>T)	.	.	0.999990361384395	0.936
18	21112249	C	G	18	23532285	y	y	splicing	NPC1(NM_000271:exon26:c.3755-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon26:c.3755-1G>C;ENST00000412552:exon19:c.2801-1G>C;ENST00000591051:exon19:c.2833-1G>C)	.	.	0.999990361384395	0.89
18	21112249	C	T	18	23532285	y	y	splicing	NPC1(NM_000271:exon26:c.3755-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon26:c.3755-1G>A;ENST00000412552:exon19:c.2801-1G>A;ENST00000591051:exon19:c.2833-1G>A)	.	.	0.999990361384395	0.936
18	21112250	T	A	18	23532286	y	y	splicing	NPC1(NM_000271:exon26:c.3755-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon26:c.3755-2A>T;ENST00000412552:exon19:c.2801-2A>T;ENST00000591051:exon19:c.2833-2A>T)	.	.	0.999988247793601	0.882
18	21112250	T	C	18	23532286	y	y	splicing	NPC1(NM_000271:exon26:c.3755-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon26:c.3755-2A>G;ENST00000412552:exon19:c.2801-2A>G;ENST00000591051:exon19:c.2833-2A>G)	.	.	0.999988247793601	0.932
18	21112250	T	G	18	23532286	y	y	splicing	NPC1(NM_000271:exon26:c.3755-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon26:c.3755-2A>C;ENST00000412552:exon19:c.2801-2A>C;ENST00000591051:exon19:c.2833-2A>C)	.	.	0.999988247793601	0.932
18	21112251	A	C	18	23532287	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.870172704409723	0.654
18	21112251	A	G	18	23532287	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.98793324996296E-5	0.0
18	21112251	A	T	18	23532287	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00191250344686534	0.082
18	21112252	T	A	18	23532288	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.1877777554816E-5	0.002
18	21112252	T	C	18	23532288	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.56518972655689E-5	0.0
18	21112252	T	G	18	23532288	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.1877777554816E-5	0.0
18	21112253	G	A	18	23532289	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.08692400722682E-5	0.004
18	21112253	G	C	18	23532289	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.46729367580504E-4	0.122
18	21112253	G	T	18	23532289	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.50931442288245E-4	0.016
18	21112254	A	C	18	23532290	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00959193892151026	0.068
18	21112254	A	G	18	23532290	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.22318452804233E-5	0.004
18	21112254	A	T	18	23532290	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00182725882341605	0.042
18	21112255	G	A	18	23532291	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.35520562038957E-5	0.0
18	21112255	G	C	18	23532291	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.68416041584137E-4	0.02
18	21112255	G	T	18	23532291	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.1494323404885E-4	0.036
18	21112256	A	C	18	23532292	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.71634112575328E-4	0.044
18	21112256	A	G	18	23532292	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.03259865177023E-5	0.0
18	21112256	A	T	18	23532292	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00259065279231266	0.086
18	21112257	G	A	18	23532293	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0045204461054641	0.114
18	21112257	G	C	18	23532293	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.024301872457339	0.174
18	21112257	G	T	18	23532293	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0210275862006221	0.168
18	21112258	A	C	18	23532294	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.112633018339284	0.412
18	21112258	A	G	18	23532294	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00510130917576333	0.128
18	21112258	A	T	18	23532294	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.491997369423394	0.472
18	21112259	G	A	18	23532295	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.03736096199351E-5	0.0
18	21112259	G	C	18	23532295	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.85036190968271E-5	0.0
18	21112259	G	T	18	23532295	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.85767055925315E-4	0.074
18	21112260	A	C	18	23532296	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00329117818831846	0.2
18	21112260	A	G	18	23532296	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.68700536616522E-4	0.008
18	21112260	A	T	18	23532296	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00331558341819798	0.218
18	21113311	A	C	18	23533347	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.79077147446082E-4	0.004
18	21113311	A	G	18	23533347	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.79077147446082E-4	0.004
18	21113311	A	T	18	23533347	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.72031392874506E-4	0.004
18	21113312	C	A	18	23533348	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.75705601606875E-4	0.002
18	21113312	C	G	18	23533348	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.21585938585243E-5	0.0
18	21113312	C	T	18	23533348	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.32453395119965E-4	0.0
18	21113313	T	A	18	23533349	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.01315188657279E-5	0.0
18	21113313	T	C	18	23533349	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.01315188657279E-5	0.0
18	21113313	T	G	18	23533349	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.01315188657279E-5	0.014
18	21113314	C	A	18	23533350	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.996547668618694	0.722
18	21113314	C	G	18	23533350	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998140465704772	0.858
18	21113314	C	T	18	23533350	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999668239224565	0.876
18	21113315	T	A	18	23533351	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.995632122425055	0.73
18	21113315	T	C	18	23533351	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.981770988139218	0.716
18	21113315	T	G	18	23533351	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.980132223026468	0.688
18	21113316	T	A	18	23533352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999209834630756	0.906
18	21113316	T	C	18	23533352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0910695157808276	0.36
18	21113316	T	G	18	23533352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.992783263197978	0.894
18	21113317	A	C	18	23533353	y	y	splicing	NPC1(NM_000271:exon25:c.3754+2T>G)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.431+2T>G;ENST00000590723:exon2:c.163+2T>G;ENST00000593280:exon2:c.86+2T>G;ENST00000586150:exon4:c.509+2T>G;ENST00000269228:exon25:c.3754+2T>G;ENST00000412552:exon18:c.2800+2T>G;ENST00000591051:exon18:c.2832+2T>G)	.	.	0.999988247793601	0.93
18	21113317	A	G	18	23533353	y	y	splicing	NPC1(NM_000271:exon25:c.3754+2T>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.431+2T>C;ENST00000590723:exon2:c.163+2T>C;ENST00000593280:exon2:c.86+2T>C;ENST00000586150:exon4:c.509+2T>C;ENST00000269228:exon25:c.3754+2T>C;ENST00000412552:exon18:c.2800+2T>C;ENST00000591051:exon18:c.2832+2T>C)	.	.	0.996398257939878	0.848
18	21113317	A	T	18	23533353	y	y	splicing	NPC1(NM_000271:exon25:c.3754+2T>A)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.431+2T>A;ENST00000590723:exon2:c.163+2T>A;ENST00000593280:exon2:c.86+2T>A;ENST00000586150:exon4:c.509+2T>A;ENST00000269228:exon25:c.3754+2T>A;ENST00000412552:exon18:c.2800+2T>A;ENST00000591051:exon18:c.2832+2T>A)	.	.	0.999988247793601	0.93
18	21113318	C	A	18	23533354	y	y	splicing	NPC1(NM_000271:exon25:c.3754+1G>T)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.431+1G>T;ENST00000590723:exon2:c.163+1G>T;ENST00000593280:exon2:c.86+1G>T;ENST00000586150:exon4:c.509+1G>T;ENST00000269228:exon25:c.3754+1G>T;ENST00000412552:exon18:c.2800+1G>T;ENST00000591051:exon18:c.2832+1G>T)	.	.	0.999990361384395	0.938
18	21113318	C	G	18	23533354	y	y	splicing	NPC1(NM_000271:exon25:c.3754+1G>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.431+1G>C;ENST00000590723:exon2:c.163+1G>C;ENST00000593280:exon2:c.86+1G>C;ENST00000586150:exon4:c.509+1G>C;ENST00000269228:exon25:c.3754+1G>C;ENST00000412552:exon18:c.2800+1G>C;ENST00000591051:exon18:c.2832+1G>C)	.	.	0.999990361384395	0.938
18	21113318	C	T	18	23533354	y	y	splicing	NPC1(NM_000271:exon25:c.3754+1G>A)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.431+1G>A;ENST00000590723:exon2:c.163+1G>A;ENST00000593280:exon2:c.86+1G>A;ENST00000586150:exon4:c.509+1G>A;ENST00000269228:exon25:c.3754+1G>A;ENST00000412552:exon18:c.2800+1G>A;ENST00000591051:exon18:c.2832+1G>A)	.	.	0.999990361384395	0.938
18	21113319	C	A	18	23533355	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.G3754T:p.G1252W;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.G163T:p.G55C;ENSG00000141458:ENST00000412552:exon17:c.G2800T:p.G934W;ENSG00000141458:ENST00000269228:exon24:c.G3754T:p.G1252W;	0.999972801815753	0.992
18	21113319	C	G	18	23533355	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.G3754C:p.G1252R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.G163C:p.G55R;ENSG00000141458:ENST00000412552:exon17:c.G2800C:p.G934R;ENSG00000141458:ENST00000269228:exon24:c.G3754C:p.G1252R;	0.999991419370561	1.0
18	21113319	C	T	18	23533355	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.G3754A:p.G1252R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.G163A:p.G55S;ENSG00000141458:ENST00000412552:exon17:c.G2800A:p.G934R;ENSG00000141458:ENST00000269228:exon24:c.G3754A:p.G1252R;	0.999982851776777	1.0
18	21113320	T	A	18	23533356	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon24:c.A3753T:p.I1251I;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.A162T:p.I54I;ENSG00000141458:ENST00000412552:exon17:c.A2799T:p.I933I;ENSG00000141458:ENST00000269228:exon24:c.A3753T:p.I1251I;	0.1484399778187	0.488
18	21113320	T	C	18	23533356	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.A3753G:p.I1251M;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.A162G:p.I54M;ENSG00000141458:ENST00000412552:exon17:c.A2799G:p.I933M;ENSG00000141458:ENST00000269228:exon24:c.A3753G:p.I1251M;	0.703722164322002	0.6
18	21113320	T	G	18	23533356	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon24:c.A3753C:p.I1251I;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.A162C:p.I54I;ENSG00000141458:ENST00000412552:exon17:c.A2799C:p.I933I;ENSG00000141458:ENST00000269228:exon24:c.A3753C:p.I1251I;	0.149961187331836	0.536
18	21113321	A	C	18	23533357	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.T3752G:p.I1251R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.T161G:p.I54R;ENSG00000141458:ENST00000412552:exon17:c.T2798G:p.I933R;ENSG00000141458:ENST00000269228:exon24:c.T3752G:p.I1251R;	0.910900176831149	0.85
18	21113321	A	G	18	23533357	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.T3752C:p.I1251T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.T161C:p.I54T;ENSG00000141458:ENST00000412552:exon17:c.T2798C:p.I933T;ENSG00000141458:ENST00000269228:exon24:c.T3752C:p.I1251T;	0.910900176831149	0.856
18	21113321	A	T	18	23533357	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.T3752A:p.I1251K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.T161A:p.I54K;ENSG00000141458:ENST00000412552:exon17:c.T2798A:p.I933K;ENSG00000141458:ENST00000269228:exon24:c.T3752A:p.I1251K;	0.920620463998856	0.804
18	21113480	A	C	18	23533516	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.T3593G:p.V1198G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.T2G:p.V1G;ENSG00000141458:ENST00000412552:exon17:c.T2639G:p.V880G;ENSG00000141458:ENST00000269228:exon24:c.T3593G:p.V1198G;	0.772678064092937	0.758
18	21113480	A	G	18	23533516	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.T3593C:p.V1198A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.T2C:p.V1A;ENSG00000141458:ENST00000412552:exon17:c.T2639C:p.V880A;ENSG00000141458:ENST00000269228:exon24:c.T3593C:p.V1198A;	0.797355243696822	0.764
18	21113480	A	T	18	23533516	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.T3593A:p.V1198E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.T2A:p.V1E;ENSG00000141458:ENST00000412552:exon17:c.T2639A:p.V880E;ENSG00000141458:ENST00000269228:exon24:c.T3593A:p.V1198E;	0.797355243696822	0.764
18	21113481	C	A	18	23533517	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.G3592T:p.V1198L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.G1T:p.V1L;ENSG00000141458:ENST00000412552:exon17:c.G2638T:p.V880L;ENSG00000141458:ENST00000269228:exon24:c.G3592T:p.V1198L;	0.994546957888964	0.894
18	21113481	C	G	18	23533517	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.G3592C:p.V1198L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.G1C:p.V1L;ENSG00000141458:ENST00000412552:exon17:c.G2638C:p.V880L;ENSG00000141458:ENST00000269228:exon24:c.G3592C:p.V1198L;	0.970894379866969	0.838
18	21113481	C	T	18	23533517	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon24:c.G3592A:p.V1198M;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000590723:exon1:c.G1A:p.V1M;ENSG00000141458:ENST00000412552:exon17:c.G2638A:p.V880M;ENSG00000141458:ENST00000269228:exon24:c.G3592A:p.V1198M;	0.383115006570185	0.554
18	21113482	C	A	18	23533518	y	y	splicing	NPC1(NM_000271:exon25:c.3592-1G>T)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.269-1G>T;ENST00000586150:exon4:c.347-1G>T;ENST00000269228:exon25:c.3592-1G>T;ENST00000412552:exon18:c.2638-1G>T;ENST00000591051:exon18:c.2670-1G>T)	.	.	0.999993288802665	0.93
18	21113482	C	G	18	23533518	y	y	splicing	NPC1(NM_000271:exon25:c.3592-1G>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.269-1G>C;ENST00000586150:exon4:c.347-1G>C;ENST00000269228:exon25:c.3592-1G>C;ENST00000412552:exon18:c.2638-1G>C;ENST00000591051:exon18:c.2670-1G>C)	.	.	0.999993288802665	0.93
18	21113482	C	T	18	23533518	y	y	splicing	NPC1(NM_000271:exon25:c.3592-1G>A)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.269-1G>A;ENST00000586150:exon4:c.347-1G>A;ENST00000269228:exon25:c.3592-1G>A;ENST00000412552:exon18:c.2638-1G>A;ENST00000591051:exon18:c.2670-1G>A)	.	.	0.999993288802665	0.93
18	21113483	T	A	18	23533519	y	y	splicing	NPC1(NM_000271:exon25:c.3592-2A>T)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.269-2A>T;ENST00000586150:exon4:c.347-2A>T;ENST00000269228:exon25:c.3592-2A>T;ENST00000412552:exon18:c.2638-2A>T;ENST00000591051:exon18:c.2670-2A>T)	.	.	0.999988247793601	0.928
18	21113483	T	C	18	23533519	y	y	splicing	NPC1(NM_000271:exon25:c.3592-2A>G)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.269-2A>G;ENST00000586150:exon4:c.347-2A>G;ENST00000269228:exon25:c.3592-2A>G;ENST00000412552:exon18:c.2638-2A>G;ENST00000591051:exon18:c.2670-2A>G)	.	.	0.999988247793601	0.928
18	21113483	T	G	18	23533519	y	y	splicing	NPC1(NM_000271:exon25:c.3592-2A>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon4:c.269-2A>C;ENST00000586150:exon4:c.347-2A>C;ENST00000269228:exon25:c.3592-2A>C;ENST00000412552:exon18:c.2638-2A>C;ENST00000591051:exon18:c.2670-2A>C)	.	.	0.999988247793601	0.928
18	21113484	A	C	18	23533520	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.984389519977612	0.668
18	21113484	A	G	18	23533520	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.00063174718248E-5	0.002
18	21113484	A	T	18	23533520	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00299787219043515	0.252
18	21113485	A	C	18	23533521	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.19552674811988E-4	0.022
18	21113485	A	G	18	23533521	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.13793253398579E-4	0.01
18	21113485	A	T	18	23533521	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00292064087887166	0.018
18	21113486	A	C	18	23533522	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0245903809305695	0.296
18	21113486	A	G	18	23533522	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0051137466059107	0.12
18	21113486	A	T	18	23533522	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00618301787179081	0.292
18	21113487	A	C	18	23533523	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0412294244585985	0.278
18	21113487	A	G	18	23533523	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0070858361840929	0.088
18	21113487	A	T	18	23533523	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.030376687749703	0.3
18	21113488	G	A	18	23533524	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.97897577769029E-4	0.006
18	21113488	G	C	18	23533524	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.40703420038301E-4	0.116
18	21113488	G	T	18	23533524	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00149620670810607	0.142
18	21113489	A	C	18	23533525	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.04182792650662E-4	0.064
18	21113489	A	G	18	23533525	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.24136361096676E-4	0.0
18	21113489	A	T	18	23533525	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.00802412822289E-4	0.068
18	21113490	A	C	18	23533526	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.005201187081076	0.118
18	21113490	A	G	18	23533526	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.005201187081076	0.1
18	21113490	A	T	18	23533526	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00686725117849684	0.136
18	21113491	G	A	18	23533527	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.61061857615661E-4	0.108
18	21113491	G	C	18	23533527	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.44535458698034E-4	0.126
18	21113491	G	T	18	23533527	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.17125848170174E-4	0.112
18	21113492	A	C	18	23533528	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0846470611397069	0.394
18	21113492	A	G	18	23533528	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.033277434898401	0.214
18	21113492	A	T	18	23533528	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.150604792232827	0.458
18	21113493	G	A	18	23533529	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.01754660595877E-5	0.05
18	21113493	G	C	18	23533529	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.20690846737348E-4	0.066
18	21113493	G	T	18	23533529	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.10132882749961E-4	0.036
18	21114402	G	A	18	23534438	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.21649339220785E-5	0.0
18	21114402	G	C	18	23534438	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.26030142238585E-5	0.002
18	21114402	G	T	18	23534438	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.53278535068133E-4	0.002
18	21114403	T	A	18	23534439	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.013849512745823	0.026
18	21114403	T	C	18	23534439	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00871104746939667	0.038
18	21114403	T	G	18	23534439	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00871104746939667	0.038
18	21114404	A	C	18	23534440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999532088184961	0.906
18	21114404	A	G	18	23534440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999516748278118	0.968
18	21114404	A	T	18	23534440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999886461991565	0.856
18	21114405	C	A	18	23534441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999991796376611	0.984
18	21114405	C	G	18	23534441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999991796376611	0.974
18	21114405	C	T	18	23534441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999992342332521	1.0
18	21114406	T	A	18	23534442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999979066570736	0.954
18	21114406	T	C	18	23534442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999968959473948	0.968
18	21114406	T	G	18	23534442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999971823780042	0.938
18	21114407	C	A	18	23534443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.976430508318087	0.532
18	21114407	C	G	18	23534443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.882198686524484	0.586
18	21114407	C	T	18	23534443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.50822382443594E-5	0.0
18	21114408	A	C	18	23534444	y	y	splicing	NPC1(NM_000271:exon24:c.3591+2T>G)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.268+2T>G;ENST00000586150:exon3:c.346+2T>G;ENST00000269228:exon24:c.3591+2T>G;ENST00000412552:exon17:c.2637+2T>G;ENST00000591051:exon17:c.2669+2T>G)	.	.	0.999988247793601	0.932
18	21114408	A	G	18	23534444	y	y	splicing	NPC1(NM_000271:exon24:c.3591+2T>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.268+2T>C;ENST00000586150:exon3:c.346+2T>C;ENST00000269228:exon24:c.3591+2T>C;ENST00000412552:exon17:c.2637+2T>C;ENST00000591051:exon17:c.2669+2T>C)	.	.	0.999967228322664	0.906
18	21114408	A	T	18	23534444	y	y	splicing	NPC1(NM_000271:exon24:c.3591+2T>A)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.268+2T>A;ENST00000586150:exon3:c.346+2T>A;ENST00000269228:exon24:c.3591+2T>A;ENST00000412552:exon17:c.2637+2T>A;ENST00000591051:exon17:c.2669+2T>A)	.	.	0.999988247793601	0.932
18	21114409	C	A	18	23534445	y	y	splicing	NPC1(NM_000271:exon24:c.3591+1G>T)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.268+1G>T;ENST00000586150:exon3:c.346+1G>T;ENST00000269228:exon24:c.3591+1G>T;ENST00000412552:exon17:c.2637+1G>T;ENST00000591051:exon17:c.2669+1G>T)	.	.	0.999990361384395	0.938
18	21114409	C	G	18	23534445	y	y	splicing	NPC1(NM_000271:exon24:c.3591+1G>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.268+1G>C;ENST00000586150:exon3:c.346+1G>C;ENST00000269228:exon24:c.3591+1G>C;ENST00000412552:exon17:c.2637+1G>C;ENST00000591051:exon17:c.2669+1G>C)	.	.	0.999990361384395	0.938
18	21114409	C	T	18	23534445	y	y	splicing	NPC1(NM_000271:exon24:c.3591+1G>A)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.268+1G>A;ENST00000586150:exon3:c.346+1G>A;ENST00000269228:exon24:c.3591+1G>A;ENST00000412552:exon17:c.2637+1G>A;ENST00000591051:exon17:c.2669+1G>A)	.	.	0.999990361384395	0.938
18	21114410	G	A	18	23534446	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon23:c.C3591T:p.S1197S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.C2637T:p.S879S;ENSG00000141458:ENST00000269228:exon23:c.C3591T:p.S1197S;	5.62217996528916E-4	0.072
18	21114410	G	C	18	23534446	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon23:c.C3591G:p.S1197S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.C2637G:p.S879S;ENSG00000141458:ENST00000269228:exon23:c.C3591G:p.S1197S;	1.63313712819277E-4	0.144
18	21114410	G	T	18	23534446	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon23:c.C3591A:p.S1197S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.C2637A:p.S879S;ENSG00000141458:ENST00000269228:exon23:c.C3591A:p.S1197S;	7.0151962677391E-5	0.004
18	21114411	G	A	18	23534447	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.C3590T:p.S1197F;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.C2636T:p.S879F;ENSG00000141458:ENST00000269228:exon23:c.C3590T:p.S1197F;	0.98999163048131	0.896
18	21114411	G	C	18	23534447	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.C3590G:p.S1197C;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.C2636G:p.S879C;ENSG00000141458:ENST00000269228:exon23:c.C3590G:p.S1197C;	0.986774779272023	0.908
18	21114411	G	T	18	23534447	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.C3590A:p.S1197Y;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.C2636A:p.S879Y;ENSG00000141458:ENST00000269228:exon23:c.C3590A:p.S1197Y;	0.976635173989658	0.714
18	21114412	A	C	18	23534448	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.T3589G:p.S1197A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.T2635G:p.S879A;ENSG00000141458:ENST00000269228:exon23:c.T3589G:p.S1197A;	0.796457187722942	0.712
18	21114412	A	G	18	23534448	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.T3589C:p.S1197P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.T2635C:p.S879P;ENSG00000141458:ENST00000269228:exon23:c.T3589C:p.S1197P;	0.792736694649909	0.696
18	21114412	A	T	18	23534448	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.T3589A:p.S1197T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.T2635A:p.S879T;ENSG00000141458:ENST00000269228:exon23:c.T3589A:p.S1197T;	0.786939627765139	0.706
18	21114522	C	A	18	23534558	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.G3479T:p.S1160I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.G2525T:p.S842I;ENSG00000141458:ENST00000269228:exon23:c.G3479T:p.S1160I;	0.704388039400772	0.654
18	21114522	C	G	18	23534558	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.G3479C:p.S1160T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.G2525C:p.S842T;ENSG00000141458:ENST00000269228:exon23:c.G3479C:p.S1160T;	0.560712470746469	0.58
18	21114522	C	T	18	23534558	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.G3479A:p.S1160N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.G2525A:p.S842N;ENSG00000141458:ENST00000269228:exon23:c.G3479A:p.S1160N;	0.345189776270353	0.518
18	21114523	T	A	18	23534559	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.A3478T:p.S1160C;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.A2524T:p.S842C;ENSG00000141458:ENST00000269228:exon23:c.A3478T:p.S1160C;	0.211816492306748	0.336
18	21114523	T	C	18	23534559	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.A3478G:p.S1160G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.A2524G:p.S842G;ENSG00000141458:ENST00000269228:exon23:c.A3478G:p.S1160G;	0.0432471054521128	0.18
18	21114523	T	G	18	23534559	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon23:c.A3478C:p.S1160R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon16:c.A2524C:p.S842R;ENSG00000141458:ENST00000269228:exon23:c.A3478C:p.S1160R;	0.201754436707201	0.26
18	21114524	C	A	18	23534560	y	y	splicing	NPC1(NM_000271:exon24:c.3478-1G>T)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.155-1G>T;ENST00000586150:exon3:c.233-1G>T;ENST00000269228:exon24:c.3478-1G>T;ENST00000412552:exon17:c.2524-1G>T;ENST00000591051:exon17:c.2556-1G>T)	.	.	0.999989125585301	0.944
18	21114524	C	G	18	23534560	y	y	splicing	NPC1(NM_000271:exon24:c.3478-1G>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.155-1G>C;ENST00000586150:exon3:c.233-1G>C;ENST00000269228:exon24:c.3478-1G>C;ENST00000412552:exon17:c.2524-1G>C;ENST00000591051:exon17:c.2556-1G>C)	.	.	0.999989125585301	0.944
18	21114524	C	T	18	23534560	y	y	splicing	NPC1(NM_000271:exon24:c.3478-1G>A)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.155-1G>A;ENST00000586150:exon3:c.233-1G>A;ENST00000269228:exon24:c.3478-1G>A;ENST00000412552:exon17:c.2524-1G>A;ENST00000591051:exon17:c.2556-1G>A)	.	.	0.999989125585301	0.944
18	21114525	T	A	18	23534561	y	y	splicing	NPC1(NM_000271:exon24:c.3478-2A>T)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.155-2A>T;ENST00000586150:exon3:c.233-2A>T;ENST00000269228:exon24:c.3478-2A>T;ENST00000412552:exon17:c.2524-2A>T;ENST00000591051:exon17:c.2556-2A>T)	.	.	0.999986741007567	0.946
18	21114525	T	C	18	23534561	y	y	splicing	NPC1(NM_000271:exon24:c.3478-2A>G)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.155-2A>G;ENST00000586150:exon3:c.233-2A>G;ENST00000269228:exon24:c.3478-2A>G;ENST00000412552:exon17:c.2524-2A>G;ENST00000591051:exon17:c.2556-2A>G)	.	.	0.999986741007567	0.946
18	21114525	T	G	18	23534561	y	y	splicing	NPC1(NM_000271:exon24:c.3478-2A>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon3:c.155-2A>C;ENST00000586150:exon3:c.233-2A>C;ENST00000269228:exon24:c.3478-2A>C;ENST00000412552:exon17:c.2524-2A>C;ENST00000591051:exon17:c.2556-2A>C)	.	.	0.999986741007567	0.946
18	21114526	G	A	18	23534562	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.263416256081469	0.196
18	21114526	G	C	18	23534562	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999922799874448	0.962
18	21114526	G	T	18	23534562	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999690581064449	0.95
18	21114527	A	C	18	23534563	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00514326181604293	0.186
18	21114527	A	G	18	23534563	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00605182950006523	0.108
18	21114527	A	T	18	23534563	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00688202758026009	0.118
18	21114528	A	C	18	23534564	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999816196266094	0.94
18	21114528	A	G	18	23534564	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.9738072280555	0.628
18	21114528	A	T	18	23534564	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999816196266094	0.934
18	21114529	A	C	18	23534565	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999930578104769	0.964
18	21114529	A	G	18	23534565	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0110360846581635	0.228
18	21114529	A	T	18	23534565	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998933794065103	0.768
18	21114530	T	A	18	23534566	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.85058378683407E-5	0.02
18	21114530	T	C	18	23534566	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.36911981156856E-5	0.006
18	21114530	T	G	18	23534566	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.85058378683407E-5	0.004
18	21114531	A	C	18	23534567	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.982122057082774	0.674
18	21114531	A	G	18	23534567	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.27572656534061E-4	0.026
18	21114531	A	T	18	23534567	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.947013394016974	0.682
18	21114532	A	C	18	23534568	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.345701037648073	0.362
18	21114532	A	G	18	23534568	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.53467590500399E-4	0.108
18	21114532	A	T	18	23534568	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.770178481197336	0.55
18	21114533	A	C	18	23534569	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999673565012548	0.894
18	21114533	A	G	18	23534569	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0443601280095806	0.236
18	21114533	A	T	18	23534569	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999888883366121	0.892
18	21114534	G	A	18	23534570	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.826524190939345	0.522
18	21114534	G	C	18	23534570	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.967446808581464	0.768
18	21114534	G	T	18	23534570	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99419122364132	0.72
18	21114535	C	A	18	23534571	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.72574789847114E-5	0.014
18	21114535	C	G	18	23534571	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.20175216104126E-5	0.0
18	21114535	C	T	18	23534571	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.66674139350846E-4	0.072
18	21115425	G	A	18	23535461	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0147362766105706	0.072
18	21115425	G	C	18	23535461	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0102130798083557	0.076
18	21115425	G	T	18	23535461	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0147362766105706	0.094
18	21115426	G	A	18	23535462	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00252122112645571	0.03
18	21115426	G	C	18	23535462	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00170511169615049	0.032
18	21115426	G	T	18	23535462	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00236016390716474	0.028
18	21115427	A	C	18	23535463	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.752910424513238	0.668
18	21115427	A	G	18	23535463	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.838292027336385	0.628
18	21115427	A	T	18	23535463	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.958286294481622	0.81
18	21115428	C	A	18	23535464	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999912026623758	0.846
18	21115428	C	G	18	23535464	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999958361478828	0.964
18	21115428	C	T	18	23535464	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999912026623758	0.878
18	21115429	T	A	18	23535465	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.997862314243657	0.934
18	21115429	T	C	18	23535465	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.997671216343133	0.918
18	21115429	T	G	18	23535465	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.996267582721739	0.9
18	21115430	C	A	18	23535466	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.224989358322244	0.572
18	21115430	C	G	18	23535466	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.820178156638698	0.692
18	21115430	C	T	18	23535466	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.18372185015676E-4	0.0
18	21115431	A	C	18	23535467	y	y	splicing	NPC1(NM_000271:exon23:c.3477+2T>G)	.	.	splicing	ENSG00000141458(ENST00000591107:exon2:c.154+2T>G;ENST00000586150:exon2:c.232+2T>G;ENST00000269228:exon23:c.3477+2T>G;ENST00000412552:exon16:c.2523+2T>G;ENST00000591051:exon16:c.2555+2T>G)	.	.	0.999988247793601	0.93
18	21115431	A	G	18	23535467	y	y	splicing	NPC1(NM_000271:exon23:c.3477+2T>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon2:c.154+2T>C;ENST00000586150:exon2:c.232+2T>C;ENST00000269228:exon23:c.3477+2T>C;ENST00000412552:exon16:c.2523+2T>C;ENST00000591051:exon16:c.2555+2T>C)	.	.	0.999929727175276	0.87
18	21115431	A	T	18	23535467	y	y	splicing	NPC1(NM_000271:exon23:c.3477+2T>A)	.	.	splicing	ENSG00000141458(ENST00000591107:exon2:c.154+2T>A;ENST00000586150:exon2:c.232+2T>A;ENST00000269228:exon23:c.3477+2T>A;ENST00000412552:exon16:c.2523+2T>A;ENST00000591051:exon16:c.2555+2T>A)	.	.	0.999988247793601	0.93
18	21115432	C	A	18	23535468	y	y	splicing	NPC1(NM_000271:exon23:c.3477+1G>T)	.	.	splicing	ENSG00000141458(ENST00000591107:exon2:c.154+1G>T;ENST00000586150:exon2:c.232+1G>T;ENST00000269228:exon23:c.3477+1G>T;ENST00000412552:exon16:c.2523+1G>T;ENST00000591051:exon16:c.2555+1G>T)	.	.	0.999990361384395	0.938
18	21115432	C	G	18	23535468	y	y	splicing	NPC1(NM_000271:exon23:c.3477+1G>C)	.	.	splicing	ENSG00000141458(ENST00000591107:exon2:c.154+1G>C;ENST00000586150:exon2:c.232+1G>C;ENST00000269228:exon23:c.3477+1G>C;ENST00000412552:exon16:c.2523+1G>C;ENST00000591051:exon16:c.2555+1G>C)	.	.	0.999990361384395	0.938
18	21115432	C	T	18	23535468	y	y	splicing	NPC1(NM_000271:exon23:c.3477+1G>A)	.	.	splicing	ENSG00000141458(ENST00000591107:exon2:c.154+1G>A;ENST00000586150:exon2:c.232+1G>A;ENST00000269228:exon23:c.3477+1G>A;ENST00000412552:exon16:c.2523+1G>A;ENST00000591051:exon16:c.2555+1G>A)	.	.	0.999990361384395	0.938
18	21115433	C	A	18	23535469	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.G3477T:p.M1159I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.G2523T:p.M841I;ENSG00000141458:ENST00000269228:exon22:c.G3477T:p.M1159I;	0.999969466574146	0.942
18	21115433	C	G	18	23535469	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.G3477C:p.M1159I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.G2523C:p.M841I;ENSG00000141458:ENST00000269228:exon22:c.G3477C:p.M1159I;	0.999969931313894	0.954
18	21115433	C	T	18	23535469	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.G3477A:p.M1159I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.G2523A:p.M841I;ENSG00000141458:ENST00000269228:exon22:c.G3477A:p.M1159I;	0.999988064252464	0.998
18	21115434	A	C	18	23535470	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.T3476G:p.M1159R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.T2522G:p.M841R;ENSG00000141458:ENST00000269228:exon22:c.T3476G:p.M1159R;	0.874169327171271	0.768
18	21115434	A	G	18	23535470	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.T3476C:p.M1159T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.T2522C:p.M841T;ENSG00000141458:ENST00000269228:exon22:c.T3476C:p.M1159T;	0.960819392452288	0.916
18	21115434	A	T	18	23535470	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.T3476A:p.M1159K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.T2522A:p.M841K;ENSG00000141458:ENST00000269228:exon22:c.T3476A:p.M1159K;	0.813056153920472	0.684
18	21115435	T	A	18	23535471	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.A3475T:p.M1159L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.A2521T:p.M841L;ENSG00000141458:ENST00000269228:exon22:c.A3475T:p.M1159L;	0.969473354291226	0.688
18	21115435	T	C	18	23535471	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.A3475G:p.M1159V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.A2521G:p.M841V;ENSG00000141458:ENST00000269228:exon22:c.A3475G:p.M1159V;	0.430099952205023	0.528
18	21115435	T	G	18	23535471	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.A3475C:p.M1159L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.A2521C:p.M841L;ENSG00000141458:ENST00000269228:exon22:c.A3475C:p.M1159L;	0.824458488067886	0.714
18	21115663	C	A	18	23535699	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.G3247T:p.V1083L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.G2293T:p.V765L;ENSG00000141458:ENST00000269228:exon22:c.G3247T:p.V1083L;	0.980738302444458	0.846
18	21115663	C	G	18	23535699	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.G3247C:p.V1083L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.G2293C:p.V765L;ENSG00000141458:ENST00000269228:exon22:c.G3247C:p.V1083L;	0.990472697555121	0.816
18	21115663	C	T	18	23535699	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.G3247A:p.V1083M;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.G2293A:p.V765M;ENSG00000141458:ENST00000269228:exon22:c.G3247A:p.V1083M;	0.992283030679231	0.814
18	21115664	A	C	18	23535700	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.T3246G:p.S1082R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.T2292G:p.S764R;ENSG00000141458:ENST00000269228:exon22:c.T3246G:p.S1082R;	3.25940359695875E-4	0.308
18	21115664	A	G	18	23535700	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon22:c.T3246C:p.S1082S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.T2292C:p.S764S;ENSG00000141458:ENST00000269228:exon22:c.T3246C:p.S1082S;	4.62099322781374E-5	0.016
18	21115664	A	T	18	23535700	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon22:c.T3246A:p.S1082R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon15:c.T2292A:p.S764R;ENSG00000141458:ENST00000269228:exon22:c.T3246A:p.S1082R;	1.7289308215387E-4	0.278
18	21115665	C	A	18	23535701	y	y	splicing	NPC1(NM_000271:exon23:c.3246-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon23:c.3246-1G>T;ENST00000412552:exon16:c.2292-1G>T;ENST00000591051:exon16:c.2324-1G>T)	.	.	0.999990361384395	0.948
18	21115665	C	G	18	23535701	y	y	splicing	NPC1(NM_000271:exon23:c.3246-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon23:c.3246-1G>C;ENST00000412552:exon16:c.2292-1G>C;ENST00000591051:exon16:c.2324-1G>C)	.	.	0.999990361384395	0.948
18	21115665	C	T	18	23535701	y	y	splicing	NPC1(NM_000271:exon23:c.3246-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon23:c.3246-1G>A;ENST00000412552:exon16:c.2292-1G>A;ENST00000591051:exon16:c.2324-1G>A)	.	.	0.999990361384395	0.948
18	21115666	T	A	18	23535702	y	y	splicing	NPC1(NM_000271:exon23:c.3246-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon23:c.3246-2A>T;ENST00000412552:exon16:c.2292-2A>T;ENST00000591051:exon16:c.2324-2A>T)	.	.	0.999988247793601	0.95
18	21115666	T	C	18	23535702	y	y	splicing	NPC1(NM_000271:exon23:c.3246-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon23:c.3246-2A>G;ENST00000412552:exon16:c.2292-2A>G;ENST00000591051:exon16:c.2324-2A>G)	.	.	0.999988247793601	0.95
18	21115666	T	G	18	23535702	y	y	splicing	NPC1(NM_000271:exon23:c.3246-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon23:c.3246-2A>C;ENST00000412552:exon16:c.2292-2A>C;ENST00000591051:exon16:c.2324-2A>C)	.	.	0.999988247793601	0.95
18	21115667	G	A	18	23535703	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00683167085797611	0.118
18	21115667	G	C	18	23535703	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999959720442096	0.95
18	21115667	G	T	18	23535703	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.992524452952281	0.806
18	21115668	G	A	18	23535704	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.15044521029766E-5	0.012
18	21115668	G	C	18	23535704	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.79958459400937E-5	0.012
18	21115668	G	T	18	23535704	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.15044521029766E-5	0.012
18	21115669	A	C	18	23535705	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.399865882831046	0.412
18	21115669	A	G	18	23535705	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.47828121711903E-4	0.226
18	21115669	A	T	18	23535705	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.361114948248294	0.44
18	21115670	G	A	18	23535706	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0518091343997483	0.306
18	21115670	G	C	18	23535706	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.616195076564598	0.398
18	21115670	G	T	18	23535706	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.575676489503902	0.38
18	21115671	G	A	18	23535707	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.01101667976475E-5	0.004
18	21115671	G	C	18	23535707	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00170371146461496	0.112
18	21115671	G	T	18	23535707	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00175344865036016	0.11
18	21115672	G	A	18	23535708	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.3703710460305E-5	0.02
18	21115672	G	C	18	23535708	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00101884599341771	0.086
18	21115672	G	T	18	23535708	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00406599395875173	0.09
18	21115673	G	A	18	23535709	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.6733894190793E-4	0.296
18	21115673	G	C	18	23535709	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00226119308973585	0.33
18	21115673	G	T	18	23535709	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00195222169681895	0.39
18	21115674	A	C	18	23535710	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.46959466952367E-4	0.17
18	21115674	A	G	18	23535710	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.32453875252642E-5	0.086
18	21115674	A	T	18	23535710	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00102303858844333	0.232
18	21115675	G	A	18	23535711	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.60484730908211E-4	0.26
18	21115675	G	C	18	23535711	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00123734664794157	0.152
18	21115675	G	T	18	23535711	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00670907266134281	0.234
18	21115676	A	C	18	23535712	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.92510060442738E-4	0.12
18	21115676	A	G	18	23535712	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.06500844363867E-5	0.01
18	21115676	A	T	18	23535712	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0012673775153527	0.12
18	21116629	G	A	18	23536665	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.24053823771026E-5	0.0
18	21116629	G	C	18	23536665	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.41691284278849E-5	0.0
18	21116629	G	T	18	23536665	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.44312574922614E-5	0.0
18	21116630	G	A	18	23536666	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.43333100458696E-4	0.06
18	21116630	G	C	18	23536666	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.3542208097324E-4	0.02
18	21116630	G	T	18	23536666	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.54782190019833E-5	0.06
18	21116631	C	A	18	23536667	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.07103199925613E-4	0.008
18	21116631	C	G	18	23536667	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.07191742357591E-4	0.046
18	21116631	C	T	18	23536667	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00119425390473308	0.01
18	21116632	T	A	18	23536668	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.84362136418929E-4	0.004
18	21116632	T	C	18	23536668	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.45946964762049E-5	0.006
18	21116632	T	G	18	23536668	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.25486496843598E-4	0.01
18	21116633	T	A	18	23536669	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.402645887533933	0.39
18	21116633	T	C	18	23536669	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.175826728950417	0.402
18	21116633	T	G	18	23536669	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.11410887057747	0.326
18	21116634	T	A	18	23536670	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998745343208757	0.682
18	21116634	T	C	18	23536670	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.285618744347863	0.474
18	21116634	T	G	18	23536670	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999393255430267	0.758
18	21116635	A	C	18	23536671	y	y	splicing	NPC1(NM_000271:exon22:c.3245+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3245+2T>G;ENST00000412552:exon15:c.2291+2T>G;ENST00000591051:exon15:c.2323+2T>G)	.	.	0.99996509239462	0.942
18	21116635	A	G	18	23536671	y	y	splicing	NPC1(NM_000271:exon22:c.3245+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3245+2T>C;ENST00000412552:exon15:c.2291+2T>C;ENST00000591051:exon15:c.2323+2T>C)	.	.	0.955315639458846	0.704
18	21116635	A	T	18	23536671	y	y	splicing	NPC1(NM_000271:exon22:c.3245+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3245+2T>A;ENST00000412552:exon15:c.2291+2T>A;ENST00000591051:exon15:c.2323+2T>A)	.	.	0.99996509239462	0.938
18	21116636	C	A	18	23536672	y	y	splicing	NPC1(NM_000271:exon22:c.3245+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3245+1G>T;ENST00000412552:exon15:c.2291+1G>T;ENST00000591051:exon15:c.2323+1G>T)	.	.	0.999990361384395	0.928
18	21116636	C	G	18	23536672	y	y	splicing	NPC1(NM_000271:exon22:c.3245+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3245+1G>C;ENST00000412552:exon15:c.2291+1G>C;ENST00000591051:exon15:c.2323+1G>C)	.	.	0.999990361384395	0.928
18	21116636	C	T	18	23536672	y	y	splicing	NPC1(NM_000271:exon22:c.3245+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3245+1G>A;ENST00000412552:exon15:c.2291+1G>A;ENST00000591051:exon15:c.2323+1G>A)	.	.	0.999990361384395	0.928
18	21116637	C	A	18	23536673	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon21:c.G3245T:p.S1082I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.G2291T:p.S764I;ENSG00000141458:ENST00000269228:exon21:c.G3245T:p.S1082I;	0.999992916837327	1.0
18	21116637	C	G	18	23536673	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon21:c.G3245C:p.S1082T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.G2291C:p.S764T;ENSG00000141458:ENST00000269228:exon21:c.G3245C:p.S1082T;	0.999998959402682	0.998
18	21116637	C	T	18	23536673	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon21:c.G3245A:p.S1082N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.G2291A:p.S764N;ENSG00000141458:ENST00000269228:exon21:c.G3245A:p.S1082N;	0.999995838868483	1.0
18	21116638	T	A	18	23536674	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon21:c.A3244T:p.S1082C;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.A2290T:p.S764C;ENSG00000141458:ENST00000269228:exon21:c.A3244T:p.S1082C;	0.99714307015481	0.862
18	21116638	T	C	18	23536674	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon21:c.A3244G:p.S1082G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.A2290G:p.S764G;ENSG00000141458:ENST00000269228:exon21:c.A3244G:p.S1082G;	0.997766381481279	0.866
18	21116638	T	G	18	23536674	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon21:c.A3244C:p.S1082R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.A2290C:p.S764R;ENSG00000141458:ENST00000269228:exon21:c.A3244C:p.S1082R;	0.997058281104821	0.836
18	21116639	G	A	18	23536675	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon21:c.C3243T:p.Y1081Y;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.C2289T:p.Y763Y;ENSG00000141458:ENST00000269228:exon21:c.C3243T:p.Y1081Y;	0.857621771508279	0.512
18	21116639	G	C	18	23536675	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon21:c.C3243G:p.Y1081X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon14:c.C2289G:p.Y763X;ENSG00000141458:ENST00000269228:exon21:c.C3243G:p.Y1081X;	0.26924989641392	0.464
18	21116639	G	T	18	23536675	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon21:c.C3243A:p.Y1081X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon14:c.C2289A:p.Y763X;ENSG00000141458:ENST00000269228:exon21:c.C3243A:p.Y1081X;	0.219212261849829	0.558
18	21116839	C	A	18	23536875	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon21:c.G3043T:p.G1015X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon14:c.G2089T:p.G697X;ENSG00000141458:ENST00000269228:exon21:c.G3043T:p.G1015X;	0.986475172586073	0.93
18	21116839	C	G	18	23536875	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon21:c.G3043C:p.G1015R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.G2089C:p.G697R;ENSG00000141458:ENST00000269228:exon21:c.G3043C:p.G1015R;	0.983219898979514	0.806
18	21116839	C	T	18	23536875	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon21:c.G3043A:p.G1015R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.G2089A:p.G697R;ENSG00000141458:ENST00000269228:exon21:c.G3043A:p.G1015R;	0.989697767214199	0.836
18	21116840	C	A	18	23536876	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon21:c.G3042T:p.G1014G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.G2088T:p.G696G;ENSG00000141458:ENST00000269228:exon21:c.G3042T:p.G1014G;	0.778840735851534	0.494
18	21116840	C	G	18	23536876	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon21:c.G3042C:p.G1014G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.G2088C:p.G696G;ENSG00000141458:ENST00000269228:exon21:c.G3042C:p.G1014G;	0.784672057212637	0.46
18	21116840	C	T	18	23536876	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon21:c.G3042A:p.G1014G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon14:c.G2088A:p.G696G;ENSG00000141458:ENST00000269228:exon21:c.G3042A:p.G1014G;	0.0244414093117386	0.222
18	21116841	C	A	18	23536877	y	y	splicing	NPC1(NM_000271:exon22:c.3042-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3042-1G>T;ENST00000412552:exon15:c.2088-1G>T;ENST00000591051:exon15:c.2120-1G>T)	.	.	0.999990556631883	0.898
18	21116841	C	G	18	23536877	y	y	splicing	NPC1(NM_000271:exon22:c.3042-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3042-1G>C;ENST00000412552:exon15:c.2088-1G>C;ENST00000591051:exon15:c.2120-1G>C)	.	.	0.999990556631883	0.898
18	21116841	C	T	18	23536877	y	y	splicing	NPC1(NM_000271:exon22:c.3042-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3042-1G>A;ENST00000412552:exon15:c.2088-1G>A;ENST00000591051:exon15:c.2120-1G>A)	.	.	0.999988321774506	0.918
18	21116842	T	A	18	23536878	y	y	splicing	NPC1(NM_000271:exon22:c.3042-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3042-2A>T;ENST00000412552:exon15:c.2088-2A>T;ENST00000591051:exon15:c.2120-2A>T)	.	.	0.999853990165324	0.874
18	21116842	T	C	18	23536878	y	y	splicing	NPC1(NM_000271:exon22:c.3042-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3042-2A>G;ENST00000412552:exon15:c.2088-2A>G;ENST00000591051:exon15:c.2120-2A>G)	.	.	0.999728728649773	0.852
18	21116842	T	G	18	23536878	y	y	splicing	NPC1(NM_000271:exon22:c.3042-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon22:c.3042-2A>C;ENST00000412552:exon15:c.2088-2A>C;ENST00000591051:exon15:c.2120-2A>C)	.	.	0.999728728649773	0.848
18	21116843	G	A	18	23536879	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.86814994873524E-4	0.016
18	21116843	G	C	18	23536879	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999901551571491	0.932
18	21116843	G	T	18	23536879	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.992662073630777	0.624
18	21116844	A	C	18	23536880	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.63638034411887E-5	0.0
18	21116844	A	G	18	23536880	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.43090503093913E-5	0.0
18	21116844	A	T	18	23536880	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.4132200318672E-5	0.0
18	21116845	G	A	18	23536881	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.7092059328321E-5	0.006
18	21116845	G	C	18	23536881	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00299200823279979	0.116
18	21116845	G	T	18	23536881	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.12639457701965E-4	0.068
18	21116846	G	A	18	23536882	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.45419170042957E-5	0.008
18	21116846	G	C	18	23536882	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00200654874637913	0.144
18	21116846	G	T	18	23536882	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0015466316158799	0.15
18	21116847	A	C	18	23536883	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.02078619294077	0.242
18	21116847	A	G	18	23536883	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.00407949478179E-5	0.0
18	21116847	A	T	18	23536883	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0345553351264	0.35
18	21116848	A	C	18	23536884	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00110769677259364	0.172
18	21116848	A	G	18	23536884	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.2002192526387E-5	0.0
18	21116848	A	T	18	23536884	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0190059183802289	0.174
18	21116849	A	C	18	23536885	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0155981010788405	0.132
18	21116849	A	G	18	23536885	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.36481658850709E-5	0.002
18	21116849	A	T	18	23536885	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0156457929010103	0.122
18	21116850	G	A	18	23536886	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.29203489347423E-5	0.0
18	21116850	G	C	18	23536886	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.40196195232946E-4	0.078
18	21116850	G	T	18	23536886	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.033565783650285	0.12
18	21116851	A	C	18	23536887	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0050633500079985	0.226
18	21116851	A	G	18	23536887	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.42614471416398E-4	0.002
18	21116851	A	T	18	23536887	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00474794985721089	0.204
18	21116852	A	C	18	23536888	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99846739861055	0.938
18	21116852	A	G	18	23536888	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.27118203752161E-5	0.002
18	21116852	A	T	18	23536888	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00623666955983786	0.106
18	21118498	G	A	18	23538534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.94361328042304E-5	0.0
18	21118498	G	C	18	23538534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.46686912350355E-5	0.004
18	21118498	G	T	18	23538534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.94361328042304E-5	0.012
18	21118499	C	A	18	23538535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.64328173172739E-4	0.036
18	21118499	C	G	18	23538535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.64328173172739E-4	0.072
18	21118499	C	T	18	23538535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.64328173172739E-4	0.026
18	21118500	A	C	18	23538536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.13855468932145E-4	0.242
18	21118500	A	G	18	23538536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00430671375937841	0.344
18	21118500	A	T	18	23538536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00328875141348482	0.26
18	21118501	C	A	18	23538537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99716497980144	0.82
18	21118501	C	G	18	23538537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999234994756022	0.836
18	21118501	C	T	18	23538537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.996639881424443	0.842
18	21118502	T	A	18	23538538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.117228742002557	0.214
18	21118502	T	C	18	23538538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.131017561575712	0.204
18	21118502	T	G	18	23538538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0966474296990196	0.216
18	21118503	T	A	18	23538539	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.908162501532094	0.636
18	21118503	T	C	18	23538539	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00435685990828183	0.118
18	21118503	T	G	18	23538539	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.941171563276591	0.652
18	21118504	A	C	18	23538540	y	y	splicing	NPC1(NM_000271:exon21:c.3041+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.3041+2T>G;ENST00000412552:exon14:c.2087+2T>G;ENST00000591051:exon14:c.2119+2T>G)	.	.	0.999988247793601	0.928
18	21118504	A	G	18	23538540	y	y	splicing	NPC1(NM_000271:exon21:c.3041+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.3041+2T>C;ENST00000412552:exon14:c.2087+2T>C;ENST00000591051:exon14:c.2119+2T>C)	.	.	0.99340600729494	0.682
18	21118504	A	T	18	23538540	y	y	splicing	NPC1(NM_000271:exon21:c.3041+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.3041+2T>A;ENST00000412552:exon14:c.2087+2T>A;ENST00000591051:exon14:c.2119+2T>A)	.	.	0.999988247793601	0.928
18	21118505	C	A	18	23538541	y	y	splicing	NPC1(NM_000271:exon21:c.3041+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.3041+1G>T;ENST00000412552:exon14:c.2087+1G>T;ENST00000591051:exon14:c.2119+1G>T)	.	.	0.999985532734767	0.938
18	21118505	C	G	18	23538541	y	y	splicing	NPC1(NM_000271:exon21:c.3041+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.3041+1G>C;ENST00000412552:exon14:c.2087+1G>C;ENST00000591051:exon14:c.2119+1G>C)	.	.	0.999985532734767	0.938
18	21118505	C	T	18	23538541	y	y	splicing	NPC1(NM_000271:exon21:c.3041+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.3041+1G>A;ENST00000412552:exon14:c.2087+1G>A;ENST00000591051:exon14:c.2119+1G>A)	.	.	0.999985532734767	0.938
18	21118506	C	A	18	23538542	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.G3041T:p.G1014V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G2087T:p.G696V;ENSG00000141458:ENST00000269228:exon20:c.G3041T:p.G1014V;	0.999059821496393	0.912
18	21118506	C	G	18	23538542	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.G3041C:p.G1014A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G2087C:p.G696A;ENSG00000141458:ENST00000269228:exon20:c.G3041C:p.G1014A;	0.999773765989317	0.922
18	21118506	C	T	18	23538542	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.G3041A:p.G1014E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G2087A:p.G696E;ENSG00000141458:ENST00000269228:exon20:c.G3041A:p.G1014E;	0.998620678442394	0.872
18	21118507	C	A	18	23538543	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.G3040T:p.G1014W;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G2086T:p.G696W;ENSG00000141458:ENST00000269228:exon20:c.G3040T:p.G1014W;	0.992032467976792	0.858
18	21118507	C	G	18	23538543	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.G3040C:p.G1014R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G2086C:p.G696R;ENSG00000141458:ENST00000269228:exon20:c.G3040C:p.G1014R;	0.994623809840394	0.906
18	21118507	C	T	18	23538543	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.G3040A:p.G1014R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G2086A:p.G696R;ENSG00000141458:ENST00000269228:exon20:c.G3040A:p.G1014R;	0.963739950676305	0.688
18	21118508	T	A	18	23538544	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.A3039T:p.K1013N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.A2085T:p.K695N;ENSG00000141458:ENST00000269228:exon20:c.A3039T:p.K1013N;	0.101188895905449	0.22
18	21118508	T	C	18	23538544	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon20:c.A3039G:p.K1013K;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.A2085G:p.K695K;ENSG00000141458:ENST00000269228:exon20:c.A3039G:p.K1013K;	9.7106292218553E-4	0.018
18	21118508	T	G	18	23538544	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.A3039C:p.K1013N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.A2085C:p.K695N;ENSG00000141458:ENST00000269228:exon20:c.A3039C:p.K1013N;	0.0269927793323938	0.246
18	21118634	C	A	18	23538670	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon20:c.G2913T:p.V971V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G1959T:p.V653V;ENSG00000141458:ENST00000269228:exon20:c.G2913T:p.V971V;	8.19523706439814E-4	0.056
18	21118634	C	G	18	23538670	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon20:c.G2913C:p.V971V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G1959C:p.V653V;ENSG00000141458:ENST00000269228:exon20:c.G2913C:p.V971V;	6.12504958083269E-4	0.128
18	21118634	C	T	18	23538670	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon20:c.G2913A:p.V971V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.G1959A:p.V653V;ENSG00000141458:ENST00000269228:exon20:c.G2913A:p.V971V;	0.00713895257414285	0.23
18	21118635	A	C	18	23538671	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.T2912G:p.V971G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.T1958G:p.V653G;ENSG00000141458:ENST00000269228:exon20:c.T2912G:p.V971G;	0.00118404946434392	0.094
18	21118635	A	G	18	23538671	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.T2912C:p.V971A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.T1958C:p.V653A;ENSG00000141458:ENST00000269228:exon20:c.T2912C:p.V971A;	0.0118460790761604	0.072
18	21118635	A	T	18	23538671	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon20:c.T2912A:p.V971E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon13:c.T1958A:p.V653E;ENSG00000141458:ENST00000269228:exon20:c.T2912A:p.V971E;	0.00108946669003066	0.04
18	21118636	C	A	18	23538672	y	y	splicing	NPC1(NM_000271:exon21:c.2912-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.2912-1G>T;ENST00000412552:exon14:c.1958-1G>T;ENST00000591051:exon14:c.1990-1G>T)	.	.	0.999930557778967	0.952
18	21118636	C	G	18	23538672	y	y	splicing	NPC1(NM_000271:exon21:c.2912-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.2912-1G>C;ENST00000412552:exon14:c.1958-1G>C;ENST00000591051:exon14:c.1990-1G>C)	.	.	0.999930557778967	0.948
18	21118636	C	T	18	23538672	y	y	splicing	NPC1(NM_000271:exon21:c.2912-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.2912-1G>A;ENST00000412552:exon14:c.1958-1G>A;ENST00000591051:exon14:c.1990-1G>A)	.	.	0.999930557778967	0.952
18	21118637	T	A	18	23538673	y	y	splicing	NPC1(NM_000271:exon21:c.2912-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.2912-2A>T;ENST00000412552:exon14:c.1958-2A>T;ENST00000591051:exon14:c.1990-2A>T)	.	.	0.999943589356991	0.956
18	21118637	T	C	18	23538673	y	y	splicing	NPC1(NM_000271:exon21:c.2912-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.2912-2A>G;ENST00000412552:exon14:c.1958-2A>G;ENST00000591051:exon14:c.1990-2A>G)	.	.	0.999963200718732	0.954
18	21118637	T	G	18	23538673	y	y	splicing	NPC1(NM_000271:exon21:c.2912-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon21:c.2912-2A>C;ENST00000412552:exon14:c.1958-2A>C;ENST00000591051:exon14:c.1990-2A>C)	.	.	0.999963200718732	0.954
18	21118638	G	A	18	23538674	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.86664435412843E-4	0.094
18	21118638	G	C	18	23538674	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.990093228123514	0.738
18	21118638	G	T	18	23538674	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.972868824844631	0.594
18	21118639	G	A	18	23538675	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00107061691326233	0.06
18	21118639	G	C	18	23538675	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.51417095135694E-4	0.044
18	21118639	G	T	18	23538675	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.57813598119869E-4	0.026
18	21118640	C	A	18	23538676	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.94676664783226E-5	0.002
18	21118640	C	G	18	23538676	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.94676664783226E-5	0.002
18	21118640	C	T	18	23538676	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.24062858138634E-4	0.06
18	21118641	G	A	18	23538677	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.08953836260108E-5	0.004
18	21118641	G	C	18	23538677	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.09245744887029E-4	0.184
18	21118641	G	T	18	23538677	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.986799315355838	0.68
18	21118642	G	A	18	23538678	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.6668915797485E-5	0.014
18	21118642	G	C	18	23538678	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.27368555730381E-4	0.216
18	21118642	G	T	18	23538678	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00174319391511191	0.198
18	21118643	A	C	18	23538679	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0829947300053614	0.462
18	21118643	A	G	18	23538679	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.48564166685352E-4	0.018
18	21118643	A	T	18	23538679	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.38324943846654	0.468
18	21118644	G	A	18	23538680	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.64567205588309E-5	0.0
18	21118644	G	C	18	23538680	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.02296889524792E-4	0.074
18	21118644	G	T	18	23538680	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.76490754079031E-4	0.03
18	21118645	A	C	18	23538681	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.59393720543274	0.576
18	21118645	A	G	18	23538681	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00122273942012706	0.116
18	21118645	A	T	18	23538681	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.698617660759062	0.618
18	21118646	C	A	18	23538682	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.04842815115868E-4	0.038
18	21118646	C	G	18	23538682	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.04842815115868E-4	0.026
18	21118646	C	T	18	23538682	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.62476783425365E-4	0.074
18	21118647	A	C	18	23538683	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999619480333794	0.958
18	21118647	A	G	18	23538683	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.33945888181799E-4	0.016
18	21118647	A	T	18	23538683	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999516574822081	0.938
18	21119311	G	A	18	23539347	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.02128225898531E-4	0.004
18	21119311	G	C	18	23539347	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00106708021734153	0.012
18	21119311	G	T	18	23539347	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.58850795910495E-4	0.016
18	21119312	A	C	18	23539348	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.54389319431926E-5	0.0
18	21119312	A	G	18	23539348	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.56779369027372E-5	0.0
18	21119312	A	T	18	23539348	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.42168608306342E-5	0.006
18	21119313	A	C	18	23539349	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00129137901141977	0.24
18	21119313	A	G	18	23539349	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.38825423852163E-4	0.256
18	21119313	A	T	18	23539349	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.10991188996474E-4	0.156
18	21119314	G	A	18	23539350	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.88594680916414E-5	0.0
18	21119314	G	C	18	23539350	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.71845750471395E-5	0.01
18	21119314	G	T	18	23539350	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.36882588007958E-5	0.004
18	21119315	G	A	18	23539351	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00102763824725063	0.018
18	21119315	G	C	18	23539351	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.84789353714255E-4	0.102
18	21119315	G	T	18	23539351	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.09595432711512E-4	0.032
18	21119316	T	A	18	23539352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999631198821833	0.914
18	21119316	T	C	18	23539352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.329403414313554	0.544
18	21119316	T	G	18	23539352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999293523825738	0.898
18	21119317	A	C	18	23539353	y	y	splicing	NPC1(NM_000271:exon20:c.2911+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2911+2T>G;ENST00000412552:exon13:c.1957+2T>G;ENST00000591051:exon13:c.1989+2T>G)	.	.	0.99994568797423	0.948
18	21119317	A	G	18	23539353	y	y	splicing	NPC1(NM_000271:exon20:c.2911+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2911+2T>C;ENST00000412552:exon13:c.1957+2T>C;ENST00000591051:exon13:c.1989+2T>C)	.	.	0.948246690487968	0.644
18	21119317	A	T	18	23539353	y	y	splicing	NPC1(NM_000271:exon20:c.2911+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2911+2T>A;ENST00000412552:exon13:c.1957+2T>A;ENST00000591051:exon13:c.1989+2T>A)	.	.	0.99994568797423	0.944
18	21119318	C	A	18	23539354	y	y	splicing	NPC1(NM_000271:exon20:c.2911+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2911+1G>T;ENST00000412552:exon13:c.1957+1G>T;ENST00000591051:exon13:c.1989+1G>T)	.	.	0.99993314117114	0.934
18	21119318	C	G	18	23539354	y	y	splicing	NPC1(NM_000271:exon20:c.2911+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2911+1G>C;ENST00000412552:exon13:c.1957+1G>C;ENST00000591051:exon13:c.1989+1G>C)	.	.	0.99993314117114	0.934
18	21119318	C	T	18	23539354	y	y	splicing	NPC1(NM_000271:exon20:c.2911+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2911+1G>A;ENST00000412552:exon13:c.1957+1G>A;ENST00000591051:exon13:c.1989+1G>A)	.	.	0.99993314117114	0.932
18	21119319	C	A	18	23539355	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon19:c.G2911T:p.V971L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.G1957T:p.V653L;ENSG00000141458:ENST00000269228:exon19:c.G2911T:p.V971L;	0.999293024016552	0.996
18	21119319	C	G	18	23539355	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon19:c.G2911C:p.V971L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.G1957C:p.V653L;ENSG00000141458:ENST00000269228:exon19:c.G2911C:p.V971L;	0.999979948577422	0.994
18	21119319	C	T	18	23539355	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon19:c.G2911A:p.V971M;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.G1957A:p.V653M;ENSG00000141458:ENST00000269228:exon19:c.G2911A:p.V971M;	0.999974330511822	0.992
18	21119320	T	A	18	23539356	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon19:c.A2910T:p.S970S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.A1956T:p.S652S;ENSG00000141458:ENST00000269228:exon19:c.A2910T:p.S970S;	0.791864527192748	0.692
18	21119320	T	C	18	23539356	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon19:c.A2910G:p.S970S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.A1956G:p.S652S;ENSG00000141458:ENST00000269228:exon19:c.A2910G:p.S970S;	0.839302493051591	0.694
18	21119320	T	G	18	23539356	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon19:c.A2910C:p.S970S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.A1956C:p.S652S;ENSG00000141458:ENST00000269228:exon19:c.A2910C:p.S970S;	0.681544721383191	0.634
18	21119321	G	A	18	23539357	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon19:c.C2909T:p.S970L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.C1955T:p.S652L;ENSG00000141458:ENST00000269228:exon19:c.C2909T:p.S970L;	0.999441104257213	0.916
18	21119321	G	C	18	23539357	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon19:c.C2909G:p.S970X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon12:c.C1955G:p.S652X;ENSG00000141458:ENST00000269228:exon19:c.C2909G:p.S970X;	0.919962643333209	0.7
18	21119321	G	T	18	23539357	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon19:c.C2909A:p.S970X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon12:c.C1955A:p.S652X;ENSG00000141458:ENST00000269228:exon19:c.C2909A:p.S970X;	0.940745909749966	0.846
18	21119433	T	A	18	23539469	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon19:c.A2797T:p.T933S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.A1843T:p.T615S;ENSG00000141458:ENST00000269228:exon19:c.A2797T:p.T933S;	0.00347317411789567	0.034
18	21119433	T	C	18	23539469	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon19:c.A2797G:p.T933A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.A1843G:p.T615A;ENSG00000141458:ENST00000269228:exon19:c.A2797G:p.T933A;	0.843490721467293	0.818
18	21119433	T	G	18	23539469	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon19:c.A2797C:p.T933P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.A1843C:p.T615P;ENSG00000141458:ENST00000269228:exon19:c.A2797C:p.T933P;	0.831729028406514	0.906
18	21119434	A	C	18	23539470	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon19:c.T2796G:p.Y932X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon12:c.T1842G:p.Y614X;ENSG00000141458:ENST00000269228:exon19:c.T2796G:p.Y932X;	1.69322718345071E-4	0.372
18	21119434	A	G	18	23539470	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon19:c.T2796C:p.Y932Y;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon12:c.T1842C:p.Y614Y;ENSG00000141458:ENST00000269228:exon19:c.T2796C:p.Y932Y;	8.48270795569487E-5	0.0
18	21119434	A	T	18	23539470	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon19:c.T2796A:p.Y932X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon12:c.T1842A:p.Y614X;ENSG00000141458:ENST00000269228:exon19:c.T2796A:p.Y932X;	4.60321021733335E-5	0.306
18	21119435	C	A	18	23539471	y	y	splicing	NPC1(NM_000271:exon20:c.2796-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2796-1G>T;ENST00000412552:exon13:c.1842-1G>T;ENST00000591051:exon13:c.1874-1G>T)	.	.	0.999990361384395	0.936
18	21119435	C	G	18	23539471	y	y	splicing	NPC1(NM_000271:exon20:c.2796-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2796-1G>C;ENST00000412552:exon13:c.1842-1G>C;ENST00000591051:exon13:c.1874-1G>C)	.	.	0.999990361384395	0.936
18	21119435	C	T	18	23539471	y	y	splicing	NPC1(NM_000271:exon20:c.2796-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2796-1G>A;ENST00000412552:exon13:c.1842-1G>A;ENST00000591051:exon13:c.1874-1G>A)	.	.	0.999990361384395	0.936
18	21119436	T	A	18	23539472	y	y	splicing	NPC1(NM_000271:exon20:c.2796-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2796-2A>T;ENST00000412552:exon13:c.1842-2A>T;ENST00000591051:exon13:c.1874-2A>T)	.	.	0.999988247793601	0.928
18	21119436	T	C	18	23539472	y	y	splicing	NPC1(NM_000271:exon20:c.2796-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2796-2A>G;ENST00000412552:exon13:c.1842-2A>G;ENST00000591051:exon13:c.1874-2A>G)	.	.	0.999988247793601	0.898
18	21119436	T	G	18	23539472	y	y	splicing	NPC1(NM_000271:exon20:c.2796-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon20:c.2796-2A>C;ENST00000412552:exon13:c.1842-2A>C;ENST00000591051:exon13:c.1874-2A>C)	.	.	0.999988247793601	0.916
18	21119437	A	C	18	23539473	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.979965750082608	0.67
18	21119437	A	G	18	23539473	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.85776508862182E-5	0.01
18	21119437	A	T	18	23539473	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.113093274423812	0.4
18	21119438	G	A	18	23539474	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.97324034595025E-4	0.01
18	21119438	G	C	18	23539474	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.53703111896537E-4	0.036
18	21119438	G	T	18	23539474	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.58519657812877E-5	0.002
18	21119439	A	C	18	23539475	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0597316051224671	0.334
18	21119439	A	G	18	23539475	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.63515150094379E-4	0.082
18	21119439	A	T	18	23539475	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0092685355440364	0.294
18	21119440	G	A	18	23539476	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.48527902355671E-4	0.058
18	21119440	G	C	18	23539476	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00341061414850308	0.13
18	21119440	G	T	18	23539476	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00137098293257608	0.122
18	21119441	A	C	18	23539477	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00982131012720102	0.072
18	21119441	A	G	18	23539477	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.11016330718018E-4	0.006
18	21119441	A	T	18	23539477	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00820135360167832	0.094
18	21119442	G	A	18	23539478	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.53408217904615E-5	0.0
18	21119442	G	C	18	23539478	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.4992479221668E-5	0.028
18	21119442	G	T	18	23539478	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.52081298234177E-4	0.036
18	21119443	G	A	18	23539479	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.73115248769321E-5	0.002
18	21119443	G	C	18	23539479	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0013882151202444	0.128
18	21119443	G	T	18	23539479	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00308535069260495	0.066
18	21119444	A	C	18	23539480	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00559316288695102	0.16
18	21119444	A	G	18	23539480	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.36145660446079E-4	0.024
18	21119444	A	T	18	23539480	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00171539677900951	0.176
18	21119445	C	A	18	23539481	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.5664650210743E-5	0.02
18	21119445	C	G	18	23539481	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.9064724595007E-5	0.0
18	21119445	C	T	18	23539481	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.45567825509082E-4	0.0
18	21119446	A	C	18	23539482	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00257627328733333	0.152
18	21119446	A	G	18	23539482	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.19943966507643E-4	0.022
18	21119446	A	T	18	23539482	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999976976386743	0.906
18	21119767	G	A	18	23539803	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00490131012834118	.
18	21119767	G	C	18	23539803	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00646122978723709	.
18	21119767	G	T	18	23539803	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00646122978723709	.
18	21119768	T	A	18	23539804	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.26700428576989E-4	.
18	21119768	T	C	18	23539804	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.14345704024569E-4	.
18	21119768	T	G	18	23539804	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.48693555744763E-4	.
18	21119769	A	C	18	23539805	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.994999201538808	.
18	21119769	A	G	18	23539805	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.997676901467141	.
18	21119769	A	T	18	23539805	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.9978906690371	.
18	21119770	C	A	18	23539806	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999971028123629	.
18	21119770	C	G	18	23539806	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999967554192629	.
18	21119770	C	T	18	23539806	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999971028123629	.
18	21119771	T	A	18	23539807	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99998828054625	.
18	21119771	T	C	18	23539807	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999964994867067	.
18	21119771	T	G	18	23539807	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999991266759964	.
18	21119772	G	A	18	23539808	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.75240534186393E-4	.
18	21119772	G	C	18	23539808	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.02308201957999E-4	.
18	21119772	G	T	18	23539808	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.09180153146439E-4	.
18	21119773	A	C	18	23539809	y	y	splicing	NPC1(NM_000271:exon19:c.2795+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2795+2T>G;ENST00000412552:exon12:c.1841+2T>G;ENST00000591051:exon12:c.1873+2T>G)	.	.	0.999979394981131	.
18	21119773	A	G	18	23539809	y	y	splicing	NPC1(NM_000271:exon19:c.2795+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2795+2T>C;ENST00000412552:exon12:c.1841+2T>C;ENST00000591051:exon12:c.1873+2T>C)	.	.	0.999601421759736	.
18	21119773	A	T	18	23539809	y	y	splicing	NPC1(NM_000271:exon19:c.2795+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2795+2T>A;ENST00000412552:exon12:c.1841+2T>A;ENST00000591051:exon12:c.1873+2T>A)	.	.	0.999979394981131	.
18	21119774	C	A	18	23539810	y	y	splicing	NPC1(NM_000271:exon19:c.2795+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2795+1G>T;ENST00000412552:exon12:c.1841+1G>T;ENST00000591051:exon12:c.1873+1G>T)	.	.	0.999982627682474	.
18	21119774	C	G	18	23539810	y	y	splicing	NPC1(NM_000271:exon19:c.2795+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2795+1G>C;ENST00000412552:exon12:c.1841+1G>C;ENST00000591051:exon12:c.1873+1G>C)	.	.	0.999982627682474	.
18	21119774	C	T	18	23539810	y	y	splicing	NPC1(NM_000271:exon19:c.2795+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2795+1G>A;ENST00000412552:exon12:c.1841+1G>A;ENST00000591051:exon12:c.1873+1G>A)	.	.	0.999982627682474	.
18	21119775	T	A	18	23539811	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.A2795T:p.Y932F;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.A1841T:p.Y614F;ENSG00000141458:ENST00000269228:exon18:c.A2795T:p.Y932F;	0.864993267722994	.
18	21119775	T	C	18	23539811	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.A2795G:p.Y932C;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.A1841G:p.Y614C;ENSG00000141458:ENST00000269228:exon18:c.A2795G:p.Y932C;	0.532722363008072	.
18	21119775	T	G	18	23539811	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.A2795C:p.Y932S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.A1841C:p.Y614S;ENSG00000141458:ENST00000269228:exon18:c.A2795C:p.Y932S;	0.696611175173803	.
18	21119776	A	C	18	23539812	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.T2794G:p.Y932D;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.T1840G:p.Y614D;ENSG00000141458:ENST00000269228:exon18:c.T2794G:p.Y932D;	0.983472549245859	.
18	21119776	A	G	18	23539812	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.T2794C:p.Y932H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.T1840C:p.Y614H;ENSG00000141458:ENST00000269228:exon18:c.T2794C:p.Y932H;	0.978270908834393	.
18	21119776	A	T	18	23539812	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.T2794A:p.Y932N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.T1840A:p.Y614N;ENSG00000141458:ENST00000269228:exon18:c.T2794A:p.Y932N;	0.843072042059291	.
18	21119777	G	A	18	23539813	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon18:c.C2793T:p.N931N;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.C1839T:p.N613N;ENSG00000141458:ENST00000269228:exon18:c.C2793T:p.N931N;	0.991501803482234	.
18	21119777	G	C	18	23539813	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.C2793G:p.N931K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.C1839G:p.N613K;ENSG00000141458:ENST00000269228:exon18:c.C2793G:p.N931K;	0.968516557761185	.
18	21119777	G	T	18	23539813	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.C2793A:p.N931K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.C1839A:p.N613K;ENSG00000141458:ENST00000269228:exon18:c.C2793A:p.N931K;	0.970261228595546	.
18	21119964	T	A	18	23540000	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.A2606T:p.D869V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.A1652T:p.D551V;ENSG00000141458:ENST00000269228:exon18:c.A2606T:p.D869V;	0.868666599350842	0.82
18	21119964	T	C	18	23540000	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.A2606G:p.D869G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.A1652G:p.D551G;ENSG00000141458:ENST00000269228:exon18:c.A2606G:p.D869G;	0.936482047245602	0.784
18	21119964	T	G	18	23540000	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.A2606C:p.D869A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.A1652C:p.D551A;ENSG00000141458:ENST00000269228:exon18:c.A2606C:p.D869A;	0.947137009449321	0.828
18	21119965	C	A	18	23540001	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.G2605T:p.D869Y;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.G1651T:p.D551Y;ENSG00000141458:ENST00000269228:exon18:c.G2605T:p.D869Y;	0.999061919656713	0.856
18	21119965	C	G	18	23540001	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.G2605C:p.D869H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.G1651C:p.D551H;ENSG00000141458:ENST00000269228:exon18:c.G2605C:p.D869H;	0.999029607512415	0.912
18	21119965	C	T	18	23540001	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon18:c.G2605A:p.D869N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon11:c.G1651A:p.D551N;ENSG00000141458:ENST00000269228:exon18:c.G2605A:p.D869N;	0.998658895393385	0.828
18	21119966	C	A	18	23540002	y	y	splicing	NPC1(NM_000271:exon19:c.2605-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2605-1G>T;ENST00000412552:exon12:c.1651-1G>T;ENST00000591051:exon12:c.1683-1G>T)	.	.	0.999990361384395	0.938
18	21119966	C	G	18	23540002	y	y	splicing	NPC1(NM_000271:exon19:c.2605-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2605-1G>C;ENST00000412552:exon12:c.1651-1G>C;ENST00000591051:exon12:c.1683-1G>C)	.	.	0.999990361384395	0.938
18	21119966	C	T	18	23540002	y	y	splicing	NPC1(NM_000271:exon19:c.2605-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2605-1G>A;ENST00000412552:exon12:c.1651-1G>A;ENST00000591051:exon12:c.1683-1G>A)	.	.	0.999990361384395	0.938
18	21119967	T	A	18	23540003	y	y	splicing	NPC1(NM_000271:exon19:c.2605-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2605-2A>T;ENST00000412552:exon12:c.1651-2A>T;ENST00000591051:exon12:c.1683-2A>T)	.	.	0.999988247793601	0.93
18	21119967	T	C	18	23540003	y	y	splicing	NPC1(NM_000271:exon19:c.2605-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2605-2A>G;ENST00000412552:exon12:c.1651-2A>G;ENST00000591051:exon12:c.1683-2A>G)	.	.	0.999988247793601	0.93
18	21119967	T	G	18	23540003	y	y	splicing	NPC1(NM_000271:exon19:c.2605-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon19:c.2605-2A>C;ENST00000412552:exon12:c.1651-2A>C;ENST00000591051:exon12:c.1683-2A>C)	.	.	0.999988247793601	0.93
18	21119968	G	A	18	23540004	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0933370943810581	0.23
18	21119968	G	C	18	23540004	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999242410548191	0.872
18	21119968	G	T	18	23540004	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.65021801414558	0.49
18	21119969	A	C	18	23540005	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.67378645857529E-4	0.0
18	21119969	A	G	18	23540005	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.49099996914444E-5	0.0
18	21119969	A	T	18	23540005	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.09529356211276E-4	0.0
18	21119970	A	C	18	23540006	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0538051493895229	0.368
18	21119970	A	G	18	23540006	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00659777247094872	0.07
18	21119970	A	T	18	23540006	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0293629139308973	0.282
18	21119971	A	C	18	23540007	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0139485516839327	0.21
18	21119971	A	G	18	23540007	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.90589907277587E-4	0.032
18	21119971	A	T	18	23540007	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.014029360732835	0.208
18	21119972	G	A	18	23540008	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.38127186713532E-4	0.01
18	21119972	G	C	18	23540008	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.08942234447324E-4	0.066
18	21119972	G	T	18	23540008	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.05454246511533E-4	0.1
18	21119973	A	C	18	23540009	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.72859763952057E-4	0.062
18	21119973	A	G	18	23540009	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.68017564257698E-4	0.012
18	21119973	A	T	18	23540009	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.02815980013008E-4	0.064
18	21119974	A	C	18	23540010	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.95684241739693E-5	0.048
18	21119974	A	G	18	23540010	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.70456564033139E-5	0.0
18	21119974	A	T	18	23540010	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.27397142426465E-5	0.028
18	21119975	A	C	18	23540011	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.76446159947031E-4	0.096
18	21119975	A	G	18	23540011	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.33906209646794E-4	0.01
18	21119975	A	T	18	23540011	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.11676134584744E-4	0.086
18	21119976	G	A	18	23540012	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.68084948146981E-5	0.002
18	21119976	G	C	18	23540012	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.81213919563468E-4	0.01
18	21119976	G	T	18	23540012	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.95790007986884E-4	0.03
18	21119977	A	C	18	23540013	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999408925746524	0.906
18	21119977	A	G	18	23540013	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.92554204070881E-4	0.008
18	21119977	A	T	18	23540013	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.19274379197568E-4	0.094
18	21120404	C	A	18	23540440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.31016407047282E-5	0.018
18	21120404	C	G	18	23540440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.87465298566125E-5	0.0
18	21120404	C	T	18	23540440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.35295416050566E-4	0.01
18	21120405	A	C	18	23540441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.04900693216345E-6	0.0
18	21120405	A	G	18	23540441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.1727629288968E-6	0.0
18	21120405	A	T	18	23540441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.1727629288968E-6	0.0
18	21120406	T	A	18	23540442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.80232452370968E-5	0.062
18	21120406	T	C	18	23540442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.65983926777068E-5	0.004
18	21120406	T	G	18	23540442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.99086852059898E-4	0.03
18	21120407	C	A	18	23540443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999983637580191	0.998
18	21120407	C	G	18	23540443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999992975167721	0.924
18	21120407	C	T	18	23540443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999982684527325	1.0
18	21120408	T	A	18	23540444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.978505454854305	0.83
18	21120408	T	C	18	23540444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999272128826679	0.902
18	21120408	T	G	18	23540444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.991063517345768	0.85
18	21120409	T	A	18	23540445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999345424331331	0.878
18	21120409	T	C	18	23540445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.510366515694724	0.5
18	21120409	T	G	18	23540445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999191540776916	0.882
18	21120410	A	C	18	23540446	y	y	splicing	NPC1(NM_000271:exon18:c.2604+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2604+2T>G;ENST00000412552:exon11:c.1650+2T>G;ENST00000591051:exon11:c.1682+2T>G)	.	.	0.99994568797423	0.942
18	21120410	A	G	18	23540446	y	y	splicing	NPC1(NM_000271:exon18:c.2604+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2604+2T>C;ENST00000412552:exon11:c.1650+2T>C;ENST00000591051:exon11:c.1682+2T>C)	.	.	0.991823161717226	0.736
18	21120410	A	T	18	23540446	y	y	splicing	NPC1(NM_000271:exon18:c.2604+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2604+2T>A;ENST00000412552:exon11:c.1650+2T>A;ENST00000591051:exon11:c.1682+2T>A)	.	.	0.999978952611685	0.942
18	21120411	C	A	18	23540447	y	y	splicing	NPC1(NM_000271:exon18:c.2604+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2604+1G>T;ENST00000412552:exon11:c.1650+1G>T;ENST00000591051:exon11:c.1682+1G>T)	.	.	0.999990361384395	0.948
18	21120411	C	G	18	23540447	y	y	splicing	NPC1(NM_000271:exon18:c.2604+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2604+1G>C;ENST00000412552:exon11:c.1650+1G>C;ENST00000591051:exon11:c.1682+1G>C)	.	.	0.999982737877662	0.948
18	21120411	C	T	18	23540447	y	y	splicing	NPC1(NM_000271:exon18:c.2604+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2604+1G>A;ENST00000412552:exon11:c.1650+1G>A;ENST00000591051:exon11:c.1682+1G>A)	.	.	0.999990361384395	0.948
18	21120412	A	C	18	23540448	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.T2604G:p.D868E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.T1650G:p.D550E;ENSG00000141458:ENST00000269228:exon17:c.T2604G:p.D868E;	9.9923928202002E-5	0.034
18	21120412	A	G	18	23540448	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon17:c.T2604C:p.D868D;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.T1650C:p.D550D;ENSG00000141458:ENST00000269228:exon17:c.T2604C:p.D868D;	1.28648846504054E-4	0.046
18	21120412	A	T	18	23540448	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.T2604A:p.D868E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.T1650A:p.D550E;ENSG00000141458:ENST00000269228:exon17:c.T2604A:p.D868E;	1.90601621640127E-5	0.0
18	21120413	T	A	18	23540449	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.A2603T:p.D868V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.A1649T:p.D550V;ENSG00000141458:ENST00000269228:exon17:c.A2603T:p.D868V;	0.99872062147047	0.928
18	21120413	T	C	18	23540449	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.A2603G:p.D868G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.A1649G:p.D550G;ENSG00000141458:ENST00000269228:exon17:c.A2603G:p.D868G;	0.997037826614867	0.904
18	21120413	T	G	18	23540449	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.A2603C:p.D868A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.A1649C:p.D550A;ENSG00000141458:ENST00000269228:exon17:c.A2603C:p.D868A;	0.917955609208577	0.844
18	21120414	C	A	18	23540450	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.G2602T:p.D868Y;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.G1648T:p.D550Y;ENSG00000141458:ENST00000269228:exon17:c.G2602T:p.D868Y;	0.0496818463467871	0.172
18	21120414	C	G	18	23540450	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.G2602C:p.D868H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.G1648C:p.D550H;ENSG00000141458:ENST00000269228:exon17:c.G2602C:p.D868H;	1.57260481914771E-4	0.002
18	21120414	C	T	18	23540450	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.G2602A:p.D868N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.G1648A:p.D550N;ENSG00000141458:ENST00000269228:exon17:c.G2602A:p.D868N;	1.57260481914771E-4	0.0
18	21120500	A	C	18	23540536	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.T2516G:p.I839R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.T1562G:p.I521R;ENSG00000141458:ENST00000269228:exon17:c.T2516G:p.I839R;	0.860349078519631	0.51
18	21120500	A	G	18	23540536	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.T2516C:p.I839T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.T1562C:p.I521T;ENSG00000141458:ENST00000269228:exon17:c.T2516C:p.I839T;	0.860349078519631	0.522
18	21120500	A	T	18	23540536	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.T2516A:p.I839K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.T1562A:p.I521K;ENSG00000141458:ENST00000269228:exon17:c.T2516A:p.I839K;	0.876238509495038	0.614
18	21120501	T	A	18	23540537	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.A2515T:p.I839L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.A1561T:p.I521L;ENSG00000141458:ENST00000269228:exon17:c.A2515T:p.I839L;	9.25576879573975E-5	0.134
18	21120501	T	C	18	23540537	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.A2515G:p.I839V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.A1561G:p.I521V;ENSG00000141458:ENST00000269228:exon17:c.A2515G:p.I839V;	1.45391076118186E-5	0.01
18	21120501	T	G	18	23540537	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon17:c.A2515C:p.I839L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon10:c.A1561C:p.I521L;ENSG00000141458:ENST00000269228:exon17:c.A2515C:p.I839L;	6.48296509008162E-5	0.146
18	21120502	C	A	18	23540538	y	y	splicing	NPC1(NM_000271:exon18:c.2515-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2515-1G>T;ENST00000412552:exon11:c.1561-1G>T;ENST00000591051:exon11:c.1593-1G>T)	.	.	0.999990361384395	0.936
18	21120502	C	G	18	23540538	y	y	splicing	NPC1(NM_000271:exon18:c.2515-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2515-1G>C;ENST00000412552:exon11:c.1561-1G>C;ENST00000591051:exon11:c.1593-1G>C)	.	.	0.999990361384395	0.934
18	21120502	C	T	18	23540538	y	y	splicing	NPC1(NM_000271:exon18:c.2515-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2515-1G>A;ENST00000412552:exon11:c.1561-1G>A;ENST00000591051:exon11:c.1593-1G>A)	.	.	0.999990361384395	0.936
18	21120503	T	A	18	23540539	y	y	splicing	NPC1(NM_000271:exon18:c.2515-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2515-2A>T;ENST00000412552:exon11:c.1561-2A>T;ENST00000591051:exon11:c.1593-2A>T)	.	.	0.999988247793601	0.926
18	21120503	T	C	18	23540539	y	y	splicing	NPC1(NM_000271:exon18:c.2515-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2515-2A>G;ENST00000412552:exon11:c.1561-2A>G;ENST00000591051:exon11:c.1593-2A>G)	.	.	0.999988247793601	0.926
18	21120503	T	G	18	23540539	y	y	splicing	NPC1(NM_000271:exon18:c.2515-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon18:c.2515-2A>C;ENST00000412552:exon11:c.1561-2A>C;ENST00000591051:exon11:c.1593-2A>C)	.	.	0.999988247793601	0.926
18	21120504	G	A	18	23540540	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.375212302231016	0.354
18	21120504	G	C	18	23540540	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999582391992003	0.972
18	21120504	G	T	18	23540540	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999832007174761	0.852
18	21120505	G	A	18	23540541	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.42935648847408E-6	0.0
18	21120505	G	C	18	23540541	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.32519396484226E-4	0.014
18	21120505	G	T	18	23540541	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.05578293996703E-5	0.0
18	21120506	A	C	18	23540542	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.492894425424107	0.428
18	21120506	A	G	18	23540542	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00364969680937977	0.25
18	21120506	A	T	18	23540542	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.801028977984625	0.464
18	21120507	A	C	18	23540543	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.5116368888583	0.53
18	21120507	A	G	18	23540543	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.93647563216078E-4	0.05
18	21120507	A	T	18	23540543	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.327013063095397	0.476
18	21120508	C	A	18	23540544	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.58669079372979E-5	0.0
18	21120508	C	G	18	23540544	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.58669079372979E-5	0.0
18	21120508	C	T	18	23540544	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.32262613672063E-4	0.016
18	21120509	A	C	18	23540545	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.52178224185935E-4	0.036
18	21120509	A	G	18	23540545	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.32764337588494E-5	0.0
18	21120509	A	T	18	23540545	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99913425167024	0.98
18	21120510	A	C	18	23540546	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0175084084961889	0.27
18	21120510	A	G	18	23540546	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.02221397924275E-4	0.052
18	21120510	A	T	18	23540546	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00521278818547542	0.2
18	21120511	C	A	18	23540547	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.18565146718103E-5	0.002
18	21120511	C	G	18	23540547	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.06463301795309E-5	0.002
18	21120511	C	T	18	23540547	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.08044882728167E-5	0.0
18	21120512	A	C	18	23540548	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.135573146313109	0.362
18	21120512	A	G	18	23540548	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.18772562923259E-4	0.068
18	21120512	A	T	18	23540548	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999974870240496	0.962
18	21120513	A	C	18	23540549	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00180865287492117	0.174
18	21120513	A	G	18	23540549	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.27598578748421E-4	0.002
18	21120513	A	T	18	23540549	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00539567314559018	0.156
18	21121024	G	A	18	23541060	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00173135058148805	0.024
18	21121024	G	C	18	23541060	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00131541333610471	0.016
18	21121024	G	T	18	23541060	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00146838386356992	0.014
18	21121025	C	A	18	23541061	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.3163165092865E-4	0.014
18	21121025	C	G	18	23541061	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.22660495981372E-5	0.0
18	21121025	C	T	18	23541061	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.34725483120292E-5	0.0
18	21121026	G	A	18	23541062	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.47408483585621E-5	0.0
18	21121026	G	C	18	23541062	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.86181247303461E-4	0.026
18	21121026	G	T	18	23541062	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.19740271900896E-4	0.014
18	21121027	C	A	18	23541063	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999979304208881	0.992
18	21121027	C	G	18	23541063	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999986637390741	0.972
18	21121027	C	T	18	23541063	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99998720393095	0.994
18	21121028	A	C	18	23541064	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.7826325512517E-5	0.022
18	21121028	A	G	18	23541064	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.1728857408361E-5	0.002
18	21121028	A	T	18	23541064	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.76870441802658E-5	0.012
18	21121029	T	A	18	23541065	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999974435785342	0.952
18	21121029	T	C	18	23541065	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998872886759694	0.79
18	21121029	T	G	18	23541065	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999948334301455	0.928
18	21121030	A	C	18	23541066	y	y	splicing	NPC1(NM_000271:exon17:c.2514+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2514+2T>G;ENST00000412552:exon10:c.1560+2T>G;ENST00000591051:exon10:c.1592+2T>G)	.	.	0.99996509239462	0.926
18	21121030	A	G	18	23541066	y	y	splicing	NPC1(NM_000271:exon17:c.2514+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2514+2T>C;ENST00000412552:exon10:c.1560+2T>C;ENST00000591051:exon10:c.1592+2T>C)	.	.	0.999667324241234	0.91
18	21121030	A	T	18	23541066	y	y	splicing	NPC1(NM_000271:exon17:c.2514+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2514+2T>A;ENST00000412552:exon10:c.1560+2T>A;ENST00000591051:exon10:c.1592+2T>A)	.	.	0.99996509239462	0.918
18	21121031	C	A	18	23541067	y	y	splicing	NPC1(NM_000271:exon17:c.2514+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2514+1G>T;ENST00000412552:exon10:c.1560+1G>T;ENST00000591051:exon10:c.1592+1G>T)	.	.	0.99994568797423	0.906
18	21121031	C	G	18	23541067	y	y	splicing	NPC1(NM_000271:exon17:c.2514+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2514+1G>C;ENST00000412552:exon10:c.1560+1G>C;ENST00000591051:exon10:c.1592+1G>C)	.	.	0.99994568797423	0.908
18	21121031	C	T	18	23541067	y	y	splicing	NPC1(NM_000271:exon17:c.2514+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2514+1G>A;ENST00000412552:exon10:c.1560+1G>A;ENST00000591051:exon10:c.1592+1G>A)	.	.	0.999970661931818	0.906
18	21121032	C	A	18	23541068	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon16:c.G2514T:p.V838V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.G1560T:p.V520V;ENSG00000141458:ENST00000269228:exon16:c.G2514T:p.V838V;	0.999986731880621	0.992
18	21121032	C	G	18	23541068	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon16:c.G2514C:p.V838V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.G1560C:p.V520V;ENSG00000141458:ENST00000269228:exon16:c.G2514C:p.V838V;	0.99999725456016	0.996
18	21121032	C	T	18	23541068	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon16:c.G2514A:p.V838V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.G1560A:p.V520V;ENSG00000141458:ENST00000269228:exon16:c.G2514A:p.V838V;	0.999987457352844	0.998
18	21121033	A	C	18	23541069	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.T2513G:p.V838G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.T1559G:p.V520G;ENSG00000141458:ENST00000269228:exon16:c.T2513G:p.V838G;	0.931645503481285	0.744
18	21121033	A	G	18	23541069	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.T2513C:p.V838A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.T1559C:p.V520A;ENSG00000141458:ENST00000269228:exon16:c.T2513C:p.V838A;	0.916398341852518	0.76
18	21121033	A	T	18	23541069	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.T2513A:p.V838E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.T1559A:p.V520E;ENSG00000141458:ENST00000269228:exon16:c.T2513A:p.V838E;	0.76439712333979	0.524
18	21121034	C	A	18	23541070	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.G2512T:p.V838L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.G1558T:p.V520L;ENSG00000141458:ENST00000269228:exon16:c.G2512T:p.V838L;	0.96687710390904	0.782
18	21121034	C	G	18	23541070	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.G2512C:p.V838L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.G1558C:p.V520L;ENSG00000141458:ENST00000269228:exon16:c.G2512C:p.V838L;	0.844421652405221	0.548
18	21121034	C	T	18	23541070	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.G2512A:p.V838M;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.G1558A:p.V520M;ENSG00000141458:ENST00000269228:exon16:c.G2512A:p.V838M;	0.854497539185255	0.59
18	21121171	T	A	18	23541207	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.A2375T:p.K792I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.A1421T:p.K474I;ENSG00000141458:ENST00000269228:exon16:c.A2375T:p.K792I;	5.1513558559873E-5	0.0
18	21121171	T	C	18	23541207	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.A2375G:p.K792R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.A1421G:p.K474R;ENSG00000141458:ENST00000269228:exon16:c.A2375G:p.K792R;	7.05827715184152E-5	0.012
18	21121171	T	G	18	23541207	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.A2375C:p.K792T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.A1421C:p.K474T;ENSG00000141458:ENST00000269228:exon16:c.A2375C:p.K792T;	1.13693568192436E-4	0.0
18	21121172	T	A	18	23541208	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon16:c.A2374T:p.K792X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon9:c.A1420T:p.K474X;ENSG00000141458:ENST00000269228:exon16:c.A2374T:p.K792X;	0.716184753314107	0.632
18	21121172	T	C	18	23541208	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.A2374G:p.K792E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.A1420G:p.K474E;ENSG00000141458:ENST00000269228:exon16:c.A2374G:p.K792E;	8.00554954348756E-4	0.012
18	21121172	T	G	18	23541208	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon16:c.A2374C:p.K792Q;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon9:c.A1420C:p.K474Q;ENSG00000141458:ENST00000269228:exon16:c.A2374C:p.K792Q;	0.0521048197100852	0.328
18	21121173	C	A	18	23541209	y	y	splicing	NPC1(NM_000271:exon17:c.2374-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2374-1G>T;ENST00000412552:exon10:c.1420-1G>T;ENST00000591051:exon10:c.1452-1G>T)	.	.	0.999989072007339	0.932
18	21121173	C	G	18	23541209	y	y	splicing	NPC1(NM_000271:exon17:c.2374-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2374-1G>C;ENST00000412552:exon10:c.1420-1G>C;ENST00000591051:exon10:c.1452-1G>C)	.	.	0.999989072007339	0.932
18	21121173	C	T	18	23541209	y	y	splicing	NPC1(NM_000271:exon17:c.2374-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2374-1G>A;ENST00000412552:exon10:c.1420-1G>A;ENST00000591051:exon10:c.1452-1G>A)	.	.	0.999989072007339	0.932
18	21121174	T	A	18	23541210	y	y	splicing	NPC1(NM_000271:exon17:c.2374-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2374-2A>T;ENST00000412552:exon10:c.1420-2A>T;ENST00000591051:exon10:c.1452-2A>T)	.	.	0.999978952611685	0.93
18	21121174	T	C	18	23541210	y	y	splicing	NPC1(NM_000271:exon17:c.2374-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2374-2A>G;ENST00000412552:exon10:c.1420-2A>G;ENST00000591051:exon10:c.1452-2A>G)	.	.	0.99994568797423	0.928
18	21121174	T	G	18	23541210	y	y	splicing	NPC1(NM_000271:exon17:c.2374-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon17:c.2374-2A>C;ENST00000412552:exon10:c.1420-2A>C;ENST00000591051:exon10:c.1452-2A>C)	.	.	0.99994568797423	0.928
18	21121175	G	A	18	23541211	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.33297356551581E-4	0.028
18	21121175	G	C	18	23541211	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999879037285834	0.97
18	21121175	G	T	18	23541211	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.984807605184517	0.7
18	21121176	A	C	18	23541212	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.07826809952618E-5	0.0
18	21121176	A	G	18	23541212	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.40509363008125E-5	0.0
18	21121176	A	T	18	23541212	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.75035651068636E-6	0.004
18	21121177	G	A	18	23541213	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.24270524154618E-5	0.044
18	21121177	G	C	18	23541213	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.91111448959752E-4	0.12
18	21121177	G	T	18	23541213	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.60667719595579E-4	0.064
18	21121178	G	A	18	23541214	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.80464368737284E-5	0.014
18	21121178	G	C	18	23541214	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00121594046423043	0.088
18	21121178	G	T	18	23541214	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00262840930669826	0.098
18	21121179	G	A	18	23541215	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.32593436539378E-5	0.0
18	21121179	G	C	18	23541215	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00175670225908636	0.03
18	21121179	G	T	18	23541215	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00110146248536607	0.054
18	21121180	G	A	18	23541216	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.61890526367909E-5	0.0
18	21121180	G	C	18	23541216	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.53656922523009E-4	0.038
18	21121180	G	T	18	23541216	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.35774545905534E-4	0.04
18	21121181	A	C	18	23541217	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00946012106566676	0.174
18	21121181	A	G	18	23541217	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00154442677628432	0.02
18	21121181	A	T	18	23541217	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0100826761676772	0.19
18	21121182	C	A	18	23541218	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.22558177897434E-5	0.0
18	21121182	C	G	18	23541218	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.78235757617695E-5	0.0
18	21121182	C	T	18	23541218	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.94537085535947E-4	0.01
18	21121183	A	C	18	23541219	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00585910796033835	0.17
18	21121183	A	G	18	23541219	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.24946169757043E-4	0.04
18	21121183	A	T	18	23541219	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999952068397564	0.874
18	21121184	G	A	18	23541220	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.17279412283895E-5	0.0
18	21121184	G	C	18	23541220	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.39519243299786E-4	0.002
18	21121184	G	T	18	23541220	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.80319728643263E-4	0.006
18	21121262	C	A	18	23541298	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.61126682708222E-5	0.012
18	21121262	C	G	18	23541298	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.61126682708222E-5	0.012
18	21121262	C	T	18	23541298	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.61126682708222E-5	0.014
18	21121263	A	C	18	23541299	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.91125889811943E-5	0.002
18	21121263	A	G	18	23541299	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.67272766448078E-5	0.0
18	21121263	A	T	18	23541299	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.67272766448078E-5	0.002
18	21121264	A	C	18	23541300	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.87139026985898E-4	0.014
18	21121264	A	G	18	23541300	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00194911717941002	0.018
18	21121264	A	T	18	23541300	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0015018067056934	0.028
18	21121265	C	A	18	23541301	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.912265488701572	0.636
18	21121265	C	G	18	23541301	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.949171592735822	0.612
18	21121265	C	T	18	23541301	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.869558987110857	0.686
18	21121266	T	A	18	23541302	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0983679167863953	0.3
18	21121266	T	C	18	23541302	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.268346146728562	0.368
18	21121266	T	G	18	23541302	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0780191435618675	0.31
18	21121267	T	A	18	23541303	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.534569351756762	0.422
18	21121267	T	C	18	23541303	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.37030938379316E-4	0.048
18	21121267	T	G	18	23541303	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.660760570467721	0.448
18	21121268	A	C	18	23541304	y	y	splicing	NPC1(NM_000271:exon16:c.2373+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2373+2T>G;ENST00000412552:exon9:c.1419+2T>G;ENST00000591051:exon9:c.1451+2T>G)	.	.	0.999988247793601	0.932
18	21121268	A	G	18	23541304	y	y	splicing	NPC1(NM_000271:exon16:c.2373+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2373+2T>C;ENST00000412552:exon9:c.1419+2T>C;ENST00000591051:exon9:c.1451+2T>C)	.	.	0.991305317320824	0.658
18	21121268	A	T	18	23541304	y	y	splicing	NPC1(NM_000271:exon16:c.2373+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2373+2T>A;ENST00000412552:exon9:c.1419+2T>A;ENST00000591051:exon9:c.1451+2T>A)	.	.	0.999988247793601	0.932
18	21121269	C	A	18	23541305	y	y	splicing	NPC1(NM_000271:exon16:c.2373+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2373+1G>T;ENST00000412552:exon9:c.1419+1G>T;ENST00000591051:exon9:c.1451+1G>T)	.	.	0.999989072007339	0.934
18	21121269	C	G	18	23541305	y	y	splicing	NPC1(NM_000271:exon16:c.2373+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2373+1G>C;ENST00000412552:exon9:c.1419+1G>C;ENST00000591051:exon9:c.1451+1G>C)	.	.	0.999989072007339	0.934
18	21121269	C	T	18	23541305	y	y	splicing	NPC1(NM_000271:exon16:c.2373+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2373+1G>A;ENST00000412552:exon9:c.1419+1G>A;ENST00000591051:exon9:c.1451+1G>A)	.	.	0.999989072007339	0.934
18	21121270	C	A	18	23541306	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.G2373T:p.E791D;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.G1419T:p.E473D;ENSG00000141458:ENST00000269228:exon15:c.G2373T:p.E791D;	0.999792017038826	0.896
18	21121270	C	G	18	23541306	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.G2373C:p.E791D;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.G1419C:p.E473D;ENSG00000141458:ENST00000269228:exon15:c.G2373C:p.E791D;	0.999811576662354	0.908
18	21121270	C	T	18	23541306	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon15:c.G2373A:p.E791E;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.G1419A:p.E473E;ENSG00000141458:ENST00000269228:exon15:c.G2373A:p.E791E;	0.98500905863625	0.666
18	21121271	T	A	18	23541307	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.A2372T:p.E791V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.A1418T:p.E473V;ENSG00000141458:ENST00000269228:exon15:c.A2372T:p.E791V;	0.987603742307648	0.494
18	21121271	T	C	18	23541307	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.A2372G:p.E791G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.A1418G:p.E473G;ENSG00000141458:ENST00000269228:exon15:c.A2372G:p.E791G;	0.989365062962478	0.834
18	21121271	T	G	18	23541307	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.A2372C:p.E791A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.A1418C:p.E473A;ENSG00000141458:ENST00000269228:exon15:c.A2372C:p.E791A;	0.991959577916348	0.706
18	21121272	C	A	18	23541308	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon15:c.G2371T:p.E791X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon8:c.G1417T:p.E473X;ENSG00000141458:ENST00000269228:exon15:c.G2371T:p.E791X;	0.990001562746091	0.864
18	21121272	C	G	18	23541308	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.G2371C:p.E791Q;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.G1417C:p.E473Q;ENSG00000141458:ENST00000269228:exon15:c.G2371C:p.E791Q;	0.952479913451685	0.756
18	21121272	C	T	18	23541308	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.G2371A:p.E791K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.G1417A:p.E473K;ENSG00000141458:ENST00000269228:exon15:c.G2371A:p.E791K;	0.952479913451685	0.792
18	21121396	T	A	18	23541432	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon15:c.A2247T:p.G749G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.A1293T:p.G431G;ENSG00000141458:ENST00000269228:exon15:c.A2247T:p.G749G;	5.84990655415943E-5	0.002
18	21121396	T	C	18	23541432	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon15:c.A2247G:p.G749G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.A1293G:p.G431G;ENSG00000141458:ENST00000269228:exon15:c.A2247G:p.G749G;	1.77698703550385E-4	0.022
18	21121396	T	G	18	23541432	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon15:c.A2247C:p.G749G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.A1293C:p.G431G;ENSG00000141458:ENST00000269228:exon15:c.A2247C:p.G749G;	2.27599117533263E-4	0.002
18	21121397	C	A	18	23541433	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.G2246T:p.G749V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.G1292T:p.G431V;ENSG00000141458:ENST00000269228:exon15:c.G2246T:p.G749V;	0.999883234861608	0.994
18	21121397	C	G	18	23541433	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.G2246C:p.G749A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.G1292C:p.G431A;ENSG00000141458:ENST00000269228:exon15:c.G2246C:p.G749A;	0.999777265218827	0.978
18	21121397	C	T	18	23541433	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon15:c.G2246A:p.G749E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon8:c.G1292A:p.G431E;ENSG00000141458:ENST00000269228:exon15:c.G2246A:p.G749E;	0.99974011178495	0.94
18	21121398	C	A	18	23541434	y	y	splicing	NPC1(NM_000271:exon16:c.2246-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2246-1G>T;ENST00000412552:exon9:c.1292-1G>T;ENST00000591051:exon9:c.1324-1G>T)	.	.	0.999980428708689	0.938
18	21121398	C	G	18	23541434	y	y	splicing	NPC1(NM_000271:exon16:c.2246-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2246-1G>C;ENST00000412552:exon9:c.1292-1G>C;ENST00000591051:exon9:c.1324-1G>C)	.	.	0.999972719455537	0.938
18	21121398	C	T	18	23541434	y	y	splicing	NPC1(NM_000271:exon16:c.2246-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2246-1G>A;ENST00000412552:exon9:c.1292-1G>A;ENST00000591051:exon9:c.1324-1G>A)	.	.	0.999980428708689	0.944
18	21121399	T	A	18	23541435	y	y	splicing	NPC1(NM_000271:exon16:c.2246-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2246-2A>T;ENST00000412552:exon9:c.1292-2A>T;ENST00000591051:exon9:c.1324-2A>T)	.	.	0.99994568797423	0.934
18	21121399	T	C	18	23541435	y	y	splicing	NPC1(NM_000271:exon16:c.2246-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2246-2A>G;ENST00000412552:exon9:c.1292-2A>G;ENST00000591051:exon9:c.1324-2A>G)	.	.	0.99994568797423	0.944
18	21121399	T	G	18	23541435	y	y	splicing	NPC1(NM_000271:exon16:c.2246-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon16:c.2246-2A>C;ENST00000412552:exon9:c.1292-2A>C;ENST00000591051:exon9:c.1324-2A>C)	.	.	0.99994568797423	0.938
18	21121400	G	A	18	23541436	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00213911461560869	0.044
18	21121400	G	C	18	23541436	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999773476983766	0.978
18	21121400	G	T	18	23541436	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.978509612343497	0.722
18	21121401	T	A	18	23541437	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.97153891773661E-4	0.046
18	21121401	T	C	18	23541437	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.30033667712781E-4	0.0
18	21121401	T	G	18	23541437	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.32771821163741E-4	0.002
18	21121402	C	A	18	23541438	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.49811543647207E-5	0.004
18	21121402	C	G	18	23541438	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.93800505767764E-6	0.004
18	21121402	C	T	18	23541438	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.28504824931757E-5	0.008
18	21121403	G	A	18	23541439	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.1381318280932E-5	0.004
18	21121403	G	C	18	23541439	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.5215648904408E-4	0.078
18	21121403	G	T	18	23541439	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.836809312630341	0.75
18	21121404	G	A	18	23541440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.29226149457031E-5	0.0
18	21121404	G	C	18	23541440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.014637913059245	0.078
18	21121404	G	T	18	23541440	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0134244491701817	0.074
18	21121405	G	A	18	23541441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.0887872363795E-4	0.002
18	21121405	G	C	18	23541441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00250272455463672	0.118
18	21121405	G	T	18	23541441	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00110786288545412	0.06
18	21121406	G	A	18	23541442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00117907369698435	0.01
18	21121406	G	C	18	23541442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0550694505497202	0.156
18	21121406	G	T	18	23541442	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.173923148667097	0.134
18	21121407	A	C	18	23541443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.94082417075611E-4	0.076
18	21121407	A	G	18	23541443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.28959938366753E-5	0.0
18	21121407	A	T	18	23541443	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.45965958081883E-4	0.078
18	21121408	G	A	18	23541444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.50938326361073E-5	0.002
18	21121408	G	C	18	23541444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.44696486051532E-4	0.062
18	21121408	G	T	18	23541444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00248702867160915	0.086
18	21121409	A	C	18	23541445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0978747136557671	0.314
18	21121409	A	G	18	23541445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00366932270937332	0.126
18	21121409	A	T	18	23541445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.108540455584118	0.36
18	21123411	A	C	18	23543447	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.94389598754121E-4	0.006
18	21123411	A	G	18	23543447	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.54953104568938E-4	0.002
18	21123411	A	T	18	23543447	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.99787264173002E-4	0.014
18	21123412	T	A	18	23543448	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.6338980702922E-4	0.118
18	21123412	T	C	18	23543448	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.30917241585552E-4	0.034
18	21123412	T	G	18	23543448	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.52120089684548E-4	0.004
18	21123413	A	C	18	23543449	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0137517966744267	0.228
18	21123413	A	G	18	23543449	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0624412324393181	0.33
18	21123413	A	T	18	23543449	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.106636500464164	0.33
18	21123414	A	C	18	23543450	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.40441279565058E-5	0.01
18	21123414	A	G	18	23543450	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.00521372736376E-4	0.016
18	21123414	A	T	18	23543450	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.26847520407626E-4	0.022
18	21123415	T	A	18	23543451	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.981619089119222	0.746
18	21123415	T	C	18	23543451	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.995696783925896	0.812
18	21123415	T	G	18	23543451	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.936890740848437	0.534
18	21123416	T	A	18	23543452	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999885139439939	0.968
18	21123416	T	C	18	23543452	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999376494376406	0.944
18	21123416	T	G	18	23543452	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999946166830722	0.964
18	21123417	A	C	18	23543453	y	y	splicing	NPC1(NM_000271:exon15:c.2245+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2245+2T>G;ENST00000412552:exon8:c.1291+2T>G;ENST00000591051:exon8:c.1323+2T>G)	.	.	0.999988247793601	0.93
18	21123417	A	G	18	23543453	y	y	splicing	NPC1(NM_000271:exon15:c.2245+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2245+2T>C;ENST00000412552:exon8:c.1291+2T>C;ENST00000591051:exon8:c.1323+2T>C)	.	.	0.99340600729494	0.692
18	21123417	A	T	18	23543453	y	y	splicing	NPC1(NM_000271:exon15:c.2245+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2245+2T>A;ENST00000412552:exon8:c.1291+2T>A;ENST00000591051:exon8:c.1323+2T>A)	.	.	0.999988247793601	0.93
18	21123418	C	A	18	23543454	y	y	splicing	NPC1(NM_000271:exon15:c.2245+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2245+1G>T;ENST00000412552:exon8:c.1291+1G>T;ENST00000591051:exon8:c.1323+1G>T)	.	.	0.999985532734767	0.938
18	21123418	C	G	18	23543454	y	y	splicing	NPC1(NM_000271:exon15:c.2245+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2245+1G>C;ENST00000412552:exon8:c.1291+1G>C;ENST00000591051:exon8:c.1323+1G>C)	.	.	0.999985532734767	0.938
18	21123418	C	T	18	23543454	y	y	splicing	NPC1(NM_000271:exon15:c.2245+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2245+1G>A;ENST00000412552:exon8:c.1291+1G>A;ENST00000591051:exon8:c.1323+1G>A)	.	.	0.999985532734767	0.938
18	21123419	C	A	18	23543455	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon14:c.G2245T:p.G749X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon7:c.G1291T:p.G431X;ENSG00000141458:ENST00000269228:exon14:c.G2245T:p.G749X;	0.99999006121748	0.986
18	21123419	C	G	18	23543455	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.G2245C:p.G749R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.G1291C:p.G431R;ENSG00000141458:ENST00000269228:exon14:c.G2245C:p.G749R;	0.999991579223159	0.996
18	21123419	C	T	18	23543455	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.G2245A:p.G749R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.G1291A:p.G431R;ENSG00000141458:ENST00000269228:exon14:c.G2245A:p.G749R;	0.99998267502225	0.99
18	21123420	T	A	18	23543456	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.A2244T:p.L748F;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.A1290T:p.L430F;ENSG00000141458:ENST00000269228:exon14:c.A2244T:p.L748F;	0.954156295350462	0.66
18	21123420	T	C	18	23543456	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon14:c.A2244G:p.L748L;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.A1290G:p.L430L;ENSG00000141458:ENST00000269228:exon14:c.A2244G:p.L748L;	0.206189194838657	0.354
18	21123420	T	G	18	23543456	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.A2244C:p.L748F;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.A1290C:p.L430F;ENSG00000141458:ENST00000269228:exon14:c.A2244C:p.L748F;	0.329798263100347	0.506
18	21123421	A	C	18	23543457	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon14:c.T2243G:p.L748X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon7:c.T1289G:p.L430X;ENSG00000141458:ENST00000269228:exon14:c.T2243G:p.L748X;	0.777753190851184	0.816
18	21123421	A	G	18	23543457	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.T2243C:p.L748S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.T1289C:p.L430S;ENSG00000141458:ENST00000269228:exon14:c.T2243C:p.L748S;	0.610172899942601	0.602
18	21123421	A	T	18	23543457	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon14:c.T2243A:p.L748X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon7:c.T1289A:p.L430X;ENSG00000141458:ENST00000269228:exon14:c.T2243A:p.L748X;	0.688513937085716	0.71
18	21123532	C	A	18	23543568	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.G2132T:p.R711I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.G1178T:p.R393I;ENSG00000141458:ENST00000269228:exon14:c.G2132T:p.R711I;	0.976285951047782	0.894
18	21123532	C	G	18	23543568	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.G2132C:p.R711T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.G1178C:p.R393T;ENSG00000141458:ENST00000269228:exon14:c.G2132C:p.R711T;	0.990237662829147	0.882
18	21123532	C	T	18	23543568	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.G2132A:p.R711K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.G1178A:p.R393K;ENSG00000141458:ENST00000269228:exon14:c.G2132A:p.R711K;	0.989586793473244	0.828
18	21123533	T	A	18	23543569	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon14:c.A2131T:p.R711X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon7:c.A1177T:p.R393X;ENSG00000141458:ENST00000269228:exon14:c.A2131T:p.R711X;	0.00533140758753726	0.28
18	21123533	T	C	18	23543569	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon14:c.A2131G:p.R711G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.A1177G:p.R393G;ENSG00000141458:ENST00000269228:exon14:c.A2131G:p.R711G;	0.0225592223477543	0.366
18	21123533	T	G	18	23543569	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon14:c.A2131C:p.R711R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon7:c.A1177C:p.R393R;ENSG00000141458:ENST00000269228:exon14:c.A2131C:p.R711R;	4.63855793790678E-4	0.018
18	21123534	C	A	18	23543570	y	y	splicing	NPC1(NM_000271:exon15:c.2131-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2131-1G>T;ENST00000412552:exon8:c.1177-1G>T;ENST00000591051:exon8:c.1209-1G>T)	.	.	0.999990361384395	0.938
18	21123534	C	G	18	23543570	y	y	splicing	NPC1(NM_000271:exon15:c.2131-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2131-1G>C;ENST00000412552:exon8:c.1177-1G>C;ENST00000591051:exon8:c.1209-1G>C)	.	.	0.999990361384395	0.938
18	21123534	C	T	18	23543570	y	y	splicing	NPC1(NM_000271:exon15:c.2131-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2131-1G>A;ENST00000412552:exon8:c.1177-1G>A;ENST00000591051:exon8:c.1209-1G>A)	.	.	0.999990361384395	0.938
18	21123535	T	A	18	23543571	y	y	splicing	NPC1(NM_000271:exon15:c.2131-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2131-2A>T;ENST00000412552:exon8:c.1177-2A>T;ENST00000591051:exon8:c.1209-2A>T)	.	.	0.999988247793601	0.932
18	21123535	T	C	18	23543571	y	y	splicing	NPC1(NM_000271:exon15:c.2131-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2131-2A>G;ENST00000412552:exon8:c.1177-2A>G;ENST00000591051:exon8:c.1209-2A>G)	.	.	0.999988247793601	0.932
18	21123535	T	G	18	23543571	y	y	splicing	NPC1(NM_000271:exon15:c.2131-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon15:c.2131-2A>C;ENST00000412552:exon8:c.1177-2A>C;ENST00000591051:exon8:c.1209-2A>C)	.	.	0.999988247793601	0.932
18	21123536	T	A	18	23543572	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.79667431637327E-4	0.002
18	21123536	T	C	18	23543572	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.385200734657305	0.236
18	21123536	T	G	18	23543572	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.03595173367316E-4	0.06
18	21123537	A	C	18	23543573	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.30796641429525E-5	0.052
18	21123537	A	G	18	23543573	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.13788712604383E-5	0.048
18	21123537	A	T	18	23543573	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.35081049839685E-5	0.046
18	21123538	A	C	18	23543574	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00148578096397094	0.238
18	21123538	A	G	18	23543574	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.12460520349627E-5	0.012
18	21123538	A	T	18	23543574	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.0868385249721E-4	0.19
18	21123539	A	C	18	23543575	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.011205393799307	0.136
18	21123539	A	G	18	23543575	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.53781343708644E-4	0.016
18	21123539	A	T	18	23543575	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00455281793100143	0.086
18	21123540	A	C	18	23543576	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.24293474829583E-5	0.008
18	21123540	A	G	18	23543576	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.63653923873587E-5	0.0
18	21123540	A	T	18	23543576	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.29828458142199E-4	0.012
18	21123541	A	C	18	23543577	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.29919191247739E-5	0.026
18	21123541	A	G	18	23543577	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.2639345521356E-5	0.002
18	21123541	A	T	18	23543577	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.0540164256735E-4	0.004
18	21123542	A	C	18	23543578	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00799863038075598	0.278
18	21123542	A	G	18	23543578	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00435491873126697	0.07
18	21123542	A	T	18	23543578	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00815398709265994	0.296
18	21123543	A	C	18	23543579	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00139462216369952	0.128
18	21123543	A	G	18	23543579	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.34254188810601E-4	0.016
18	21123543	A	T	18	23543579	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00210686136671432	0.082
18	21123544	A	C	18	23543580	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.09031102405238E-4	0.234
18	21123544	A	G	18	23543580	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.65145909778665E-4	0.034
18	21123544	A	T	18	23543580	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00129489401718183	0.21
18	21123545	A	C	18	23543581	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.35931034041696E-4	0.128
18	21123545	A	G	18	23543581	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.47650418951222E-4	0.024
18	21123545	A	T	18	23543581	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.18473972089183E-4	0.098
18	21124300	A	C	18	23544336	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.96345177579517E-5	0.01
18	21124300	A	G	18	23544336	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.59611368821263E-5	0.012
18	21124300	A	T	18	23544336	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.97754353840953E-4	0.018
18	21124301	A	C	18	23544337	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.41921414257752E-5	0.008
18	21124301	A	G	18	23544337	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.41921414257752E-5	0.008
18	21124301	A	T	18	23544337	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.19259024465941E-5	0.01
18	21124302	G	A	18	23544338	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.35176480286442E-5	0.0
18	21124302	G	C	18	23544338	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.77289449884193E-5	0.002
18	21124302	G	T	18	23544338	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.94330460644674E-5	0.0
18	21124303	T	A	18	23544339	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00111808309062449	0.07
18	21124303	T	C	18	23544339	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.73193530960533E-4	0.108
18	21124303	T	G	18	23544339	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.20929786374037E-4	0.004
18	21124304	A	C	18	23544340	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.37678925692428E-5	0.002
18	21124304	A	G	18	23544340	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.30385653436472E-5	0.008
18	21124304	A	T	18	23544340	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.65544925695522E-5	0.004
18	21124305	T	A	18	23544341	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998446161789788	0.746
18	21124305	T	C	18	23544341	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.772768463130123	0.518
18	21124305	T	G	18	23544341	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998723973764462	0.754
18	21124306	A	C	18	23544342	y	y	splicing	NPC1(NM_000271:exon14:c.2130+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.2130+2T>G;ENST00000412552:exon7:c.1176+2T>G;ENST00000591051:exon7:c.1208+2T>G)	.	.	0.999988247793601	0.912
18	21124306	A	G	18	23544342	y	y	splicing	NPC1(NM_000271:exon14:c.2130+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.2130+2T>C;ENST00000412552:exon7:c.1176+2T>C;ENST00000591051:exon7:c.1208+2T>C)	.	.	0.98918007292081	0.69
18	21124306	A	T	18	23544342	y	y	splicing	NPC1(NM_000271:exon14:c.2130+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.2130+2T>A;ENST00000412552:exon7:c.1176+2T>A;ENST00000591051:exon7:c.1208+2T>A)	.	.	0.999988247793601	0.912
18	21124307	C	A	18	23544343	y	y	splicing	NPC1(NM_000271:exon14:c.2130+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.2130+1G>T;ENST00000412552:exon7:c.1176+1G>T;ENST00000591051:exon7:c.1208+1G>T)	.	.	0.999990361384395	0.924
18	21124307	C	G	18	23544343	y	y	splicing	NPC1(NM_000271:exon14:c.2130+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.2130+1G>C;ENST00000412552:exon7:c.1176+1G>C;ENST00000591051:exon7:c.1208+1G>C)	.	.	0.999990361384395	0.924
18	21124307	C	T	18	23544343	y	y	splicing	NPC1(NM_000271:exon14:c.2130+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.2130+1G>A;ENST00000412552:exon7:c.1176+1G>A;ENST00000591051:exon7:c.1208+1G>A)	.	.	0.999990361384395	0.926
18	21124308	C	A	18	23544344	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.G2130T:p.Q710H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.G1176T:p.Q392H;ENSG00000141458:ENST00000269228:exon13:c.G2130T:p.Q710H;	0.999994342005323	0.98
18	21124308	C	G	18	23544344	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.G2130C:p.Q710H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.G1176C:p.Q392H;ENSG00000141458:ENST00000269228:exon13:c.G2130C:p.Q710H;	0.999997360428448	1.0
18	21124308	C	T	18	23544344	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon13:c.G2130A:p.Q710Q;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.G1176A:p.Q392Q;ENSG00000141458:ENST00000269228:exon13:c.G2130A:p.Q710Q;	0.999976663501747	0.994
18	21124309	T	A	18	23544345	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.A2129T:p.Q710L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.A1175T:p.Q392L;ENSG00000141458:ENST00000269228:exon13:c.A2129T:p.Q710L;	0.999975296717599	1.0
18	21124309	T	C	18	23544345	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.A2129G:p.Q710R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.A1175G:p.Q392R;ENSG00000141458:ENST00000269228:exon13:c.A2129G:p.Q710R;	0.999959583188391	0.99
18	21124309	T	G	18	23544345	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.A2129C:p.Q710P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.A1175C:p.Q392P;ENSG00000141458:ENST00000269228:exon13:c.A2129C:p.Q710P;	0.99993015687278	1.0
18	21124310	G	A	18	23544346	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon13:c.C2128T:p.Q710X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon6:c.C1174T:p.Q392X;ENSG00000141458:ENST00000269228:exon13:c.C2128T:p.Q710X;	0.999919922083202	0.984
18	21124310	G	C	18	23544346	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.C2128G:p.Q710E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.C1174G:p.Q392E;ENSG00000141458:ENST00000269228:exon13:c.C2128G:p.Q710E;	0.980527508228191	0.688
18	21124310	G	T	18	23544346	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.C2128A:p.Q710K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.C1174A:p.Q392K;ENSG00000141458:ENST00000269228:exon13:c.C2128A:p.Q710K;	0.979140796868957	0.77
18	21124489	A	C	18	23544525	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.T1949G:p.V650G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.T995G:p.V332G;ENSG00000141458:ENST00000269228:exon13:c.T1949G:p.V650G;	0.202844607434412	0.57
18	21124489	A	G	18	23544525	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.T1949C:p.V650A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.T995C:p.V332A;ENSG00000141458:ENST00000269228:exon13:c.T1949C:p.V650A;	0.376579568871089	0.528
18	21124489	A	T	18	23544525	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.T1949A:p.V650E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.T995A:p.V332E;ENSG00000141458:ENST00000269228:exon13:c.T1949A:p.V650E;	0.148243904838526	0.568
18	21124490	C	A	18	23544526	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.G1948T:p.V650L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.G994T:p.V332L;ENSG00000141458:ENST00000269228:exon13:c.G1948T:p.V650L;	0.975879613124244	0.876
18	21124490	C	G	18	23544526	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.G1948C:p.V650L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.G994C:p.V332L;ENSG00000141458:ENST00000269228:exon13:c.G1948C:p.V650L;	0.944263661846865	0.806
18	21124490	C	T	18	23544526	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon13:c.G1948A:p.V650M;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon6:c.G994A:p.V332M;ENSG00000141458:ENST00000269228:exon13:c.G1948A:p.V650M;	0.234679292693503	0.382
18	21124491	C	A	18	23544527	y	y	splicing	NPC1(NM_000271:exon14:c.1948-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.1948-1G>T;ENST00000412552:exon7:c.994-1G>T;ENST00000591051:exon7:c.1026-1G>T)	.	.	0.999981760802075	0.938
18	21124491	C	G	18	23544527	y	y	splicing	NPC1(NM_000271:exon14:c.1948-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.1948-1G>C;ENST00000412552:exon7:c.994-1G>C;ENST00000591051:exon7:c.1026-1G>C)	.	.	0.999981760802075	0.938
18	21124491	C	T	18	23544527	y	y	splicing	NPC1(NM_000271:exon14:c.1948-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.1948-1G>A;ENST00000412552:exon7:c.994-1G>A;ENST00000591051:exon7:c.1026-1G>A)	.	.	0.999981760802075	0.938
18	21124492	T	A	18	23544528	y	y	splicing	NPC1(NM_000271:exon14:c.1948-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.1948-2A>T;ENST00000412552:exon7:c.994-2A>T;ENST00000591051:exon7:c.1026-2A>T)	.	.	0.999989917668626	0.928
18	21124492	T	C	18	23544528	y	y	splicing	NPC1(NM_000271:exon14:c.1948-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.1948-2A>G;ENST00000412552:exon7:c.994-2A>G;ENST00000591051:exon7:c.1026-2A>G)	.	.	0.999989917668626	0.928
18	21124492	T	G	18	23544528	y	y	splicing	NPC1(NM_000271:exon14:c.1948-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon14:c.1948-2A>C;ENST00000412552:exon7:c.994-2A>C;ENST00000591051:exon7:c.1026-2A>C)	.	.	0.999989917668626	0.928
18	21124493	G	A	18	23544529	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.017664640816987	0.02
18	21124493	G	C	18	23544529	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999902445864316	0.964
18	21124493	G	T	18	23544529	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.569727239238199	0.578
18	21124494	A	C	18	23544530	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.07304514332452E-5	0.006
18	21124494	A	G	18	23544530	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.73850422648909E-5	0.006
18	21124494	A	T	18	23544530	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.62468467752116E-4	0.0
18	21124495	G	A	18	23544531	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.98584194574187E-5	0.002
18	21124495	G	C	18	23544531	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.13182195879221E-4	0.024
18	21124495	G	T	18	23544531	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.47510095905292E-4	0.038
18	21124496	A	C	18	23544532	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00884800230327039	0.09
18	21124496	A	G	18	23544532	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.56722501786047E-5	0.0
18	21124496	A	T	18	23544532	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0112133975470673	0.06
18	21124497	G	A	18	23544533	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.48285675391444E-5	0.006
18	21124497	G	C	18	23544533	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.82945067356777E-4	0.042
18	21124497	G	T	18	23544533	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.95362431642171E-4	0.034
18	21124498	A	C	18	23544534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.70871955606896E-4	0.026
18	21124498	A	G	18	23544534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.56707885434594E-5	0.002
18	21124498	A	T	18	23544534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00159423064709261	0.036
18	21124499	G	A	18	23544535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.13769771353931E-5	0.0
18	21124499	G	C	18	23544535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.96490661796399E-5	0.004
18	21124499	G	T	18	23544535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.49547785432554E-5	0.012
18	21124500	G	A	18	23544536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.9318844564553E-5	0.0
18	21124500	G	C	18	23544536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.99305199501236E-4	0.03
18	21124500	G	T	18	23544536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00400049597117817	0.126
18	21124501	C	A	18	23544537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.71557533556056E-5	0.0
18	21124501	C	G	18	23544537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.56737120442733E-5	0.0
18	21124501	C	T	18	23544537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.02418278886157E-5	0.0
18	21124502	G	A	18	23544538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.33746568468665E-5	0.006
18	21124502	G	C	18	23544538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.41791564808423E-4	0.046
18	21124502	G	T	18	23544538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998817567242751	0.97
18	21124916	C	A	18	23544952	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.76952863752465E-5	0.016
18	21124916	C	G	18	23544952	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.13120986917194E-5	0.0
18	21124916	C	T	18	23544952	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.73562671462272E-5	0.002
18	21124917	G	A	18	23544953	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.98674174095525E-5	0.0
18	21124917	G	C	18	23544953	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.20077586721042E-5	0.0
18	21124917	G	T	18	23544953	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.95605856857004E-5	0.0
18	21124918	G	A	18	23544954	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.83895199344785E-5	0.0
18	21124918	G	C	18	23544954	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.3282485081086E-5	0.022
18	21124918	G	T	18	23544954	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.56649643409719E-4	0.016
18	21124919	C	A	18	23544955	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998848784836631	0.828
18	21124919	C	G	18	23544955	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999769919742959	0.974
18	21124919	C	T	18	23544955	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999852389346464	0.966
18	21124920	T	A	18	23544956	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.370010493812487	0.562
18	21124920	T	C	18	23544956	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.340794156671816	0.43
18	21124920	T	G	18	23544956	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.575648136562879	0.46
18	21124921	T	A	18	23544957	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.995283481327594	0.794
18	21124921	T	C	18	23544957	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00186109656309794	0.248
18	21124921	T	G	18	23544957	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.790506426361505	0.724
18	21124922	A	C	18	23544958	y	y	splicing	NPC1(NM_000271:exon13:c.1947+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1947+2T>G;ENST00000412552:exon6:c.993+2T>G;ENST00000591051:exon6:c.1025+2T>G)	.	.	0.999988247793601	0.93
18	21124922	A	G	18	23544958	y	y	splicing	NPC1(NM_000271:exon13:c.1947+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1947+2T>C;ENST00000412552:exon6:c.993+2T>C;ENST00000591051:exon6:c.1025+2T>C)	.	.	0.999897703382408	0.89
18	21124922	A	T	18	23544958	y	y	splicing	NPC1(NM_000271:exon13:c.1947+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1947+2T>A;ENST00000412552:exon6:c.993+2T>A;ENST00000591051:exon6:c.1025+2T>A)	.	.	0.999988247793601	0.93
18	21124923	C	A	18	23544959	y	y	splicing	NPC1(NM_000271:exon13:c.1947+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1947+1G>T;ENST00000412552:exon6:c.993+1G>T;ENST00000591051:exon6:c.1025+1G>T)	.	.	0.999989072007339	0.934
18	21124923	C	G	18	23544959	y	y	splicing	NPC1(NM_000271:exon13:c.1947+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1947+1G>C;ENST00000412552:exon6:c.993+1G>C;ENST00000591051:exon6:c.1025+1G>C)	.	.	0.999989072007339	0.934
18	21124923	C	T	18	23544959	y	y	splicing	NPC1(NM_000271:exon13:c.1947+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1947+1G>A;ENST00000412552:exon6:c.993+1G>A;ENST00000591051:exon6:c.1025+1G>A)	.	.	0.999989072007339	0.934
18	21124924	C	A	18	23544960	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon12:c.G1947T:p.L649L;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.G993T:p.L331L;ENSG00000141458:ENST00000269228:exon12:c.G1947T:p.L649L;	0.999509464300997	0.986
18	21124924	C	G	18	23544960	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon12:c.G1947C:p.L649L;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.G993C:p.L331L;ENSG00000141458:ENST00000269228:exon12:c.G1947C:p.L649L;	0.999967245447516	0.958
18	21124924	C	T	18	23544960	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon12:c.G1947A:p.L649L;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.G993A:p.L331L;ENSG00000141458:ENST00000269228:exon12:c.G1947A:p.L649L;	0.999431509703045	0.994
18	21124925	A	C	18	23544961	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.T1946G:p.L649R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.T992G:p.L331R;ENSG00000141458:ENST00000269228:exon12:c.T1946G:p.L649R;	0.755843084004491	0.78
18	21124925	A	G	18	23544961	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.T1946C:p.L649P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.T992C:p.L331P;ENSG00000141458:ENST00000269228:exon12:c.T1946C:p.L649P;	0.902101387757249	0.816
18	21124925	A	T	18	23544961	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.T1946A:p.L649Q;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.T992A:p.L331Q;ENSG00000141458:ENST00000269228:exon12:c.T1946A:p.L649Q;	0.577477903675594	0.606
18	21124926	G	A	18	23544962	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon12:c.C1945T:p.L649L;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.C991T:p.L331L;ENSG00000141458:ENST00000269228:exon12:c.C1945T:p.L649L;	0.0934924371945132	0.23
18	21124926	G	C	18	23544962	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.C1945G:p.L649V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.C991G:p.L331V;ENSG00000141458:ENST00000269228:exon12:c.C1945G:p.L649V;	0.0496115870987705	0.338
18	21124926	G	T	18	23544962	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.C1945A:p.L649M;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.C991A:p.L331M;ENSG00000141458:ENST00000269228:exon12:c.C1945A:p.L649M;	0.17569260816041	0.358
18	21125112	A	C	18	23545148	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.T1759G:p.F587V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.T805G:p.F269V;ENSG00000141458:ENST00000269228:exon12:c.T1759G:p.F587V;	2.7663231267593E-4	0.058
18	21125112	A	G	18	23545148	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.T1759C:p.F587L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.T805C:p.F269L;ENSG00000141458:ENST00000269228:exon12:c.T1759C:p.F587L;	5.26255864934773E-4	0.068
18	21125112	A	T	18	23545148	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.T1759A:p.F587I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.T805A:p.F269I;ENSG00000141458:ENST00000269228:exon12:c.T1759A:p.F587I;	3.3781778720785E-4	0.06
18	21125113	C	A	18	23545149	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.G1758T:p.E586D;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon12:c.G1758T:p.E586D;	0.936067583924321	0.68
18	21125113	C	G	18	23545149	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon12:c.G1758C:p.E586D;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon12:c.G1758C:p.E586D;	0.472587774323205	0.638
18	21125113	C	T	18	23545149	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon12:c.G1758A:p.E586E;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon5:c.G804A:p.R268R;ENSG00000141458:ENST00000269228:exon12:c.G1758A:p.E586E;	0.00221483890063018	0.17
18	21125114	C	A	18	23545150	y	y	splicing	NPC1(NM_000271:exon13:c.1758-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1758-1G>T;ENST00000412552:exon6:c.804-1G>T;ENST00000591051:exon6:c.836-1G>T)	.	.	0.999985532734767	0.938
18	21125114	C	G	18	23545150	y	y	splicing	NPC1(NM_000271:exon13:c.1758-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1758-1G>C;ENST00000412552:exon6:c.804-1G>C;ENST00000591051:exon6:c.836-1G>C)	.	.	0.999985532734767	0.938
18	21125114	C	T	18	23545150	y	y	splicing	NPC1(NM_000271:exon13:c.1758-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1758-1G>A;ENST00000412552:exon6:c.804-1G>A;ENST00000591051:exon6:c.836-1G>A)	.	.	0.999985532734767	0.938
18	21125115	T	A	18	23545151	y	y	splicing	NPC1(NM_000271:exon13:c.1758-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1758-2A>T;ENST00000412552:exon6:c.804-2A>T;ENST00000591051:exon6:c.836-2A>T)	.	.	0.999988247793601	0.928
18	21125115	T	C	18	23545151	y	y	splicing	NPC1(NM_000271:exon13:c.1758-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1758-2A>G;ENST00000412552:exon6:c.804-2A>G;ENST00000591051:exon6:c.836-2A>G)	.	.	0.999988247793601	0.928
18	21125115	T	G	18	23545151	y	y	splicing	NPC1(NM_000271:exon13:c.1758-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon13:c.1758-2A>C;ENST00000412552:exon6:c.804-2A>C;ENST00000591051:exon6:c.836-2A>C)	.	.	0.999988247793601	0.928
18	21125116	A	C	18	23545152	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.475124690059393	0.546
18	21125116	A	G	18	23545152	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.7046014148968E-5	0.0
18	21125116	A	T	18	23545152	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.73622134519416E-4	0.066
18	21125117	A	C	18	23545153	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.28653235893849E-4	0.034
18	21125117	A	G	18	23545153	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.03468559284588E-4	0.024
18	21125117	A	T	18	23545153	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0033087610851559	0.042
18	21125118	A	C	18	23545154	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.824245259672617	0.564
18	21125118	A	G	18	23545154	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0228173136130817	0.178
18	21125118	A	T	18	23545154	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.93007275779418	0.612
18	21125119	A	C	18	23545155	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.206910814177372	0.37
18	21125119	A	G	18	23545155	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.01252529641258E-4	0.0
18	21125119	A	T	18	23545155	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.274291896605034	0.33
18	21125120	G	A	18	23545156	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.66881762909711E-5	0.0
18	21125120	G	C	18	23545156	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.8340475224904E-5	0.018
18	21125120	G	T	18	23545156	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.10619124105713E-4	0.02
18	21125121	G	A	18	23545157	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.42819663655607E-5	0.0
18	21125121	G	C	18	23545157	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998998079721438	0.986
18	21125121	G	T	18	23545157	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00257449259716994	0.054
18	21125122	T	A	18	23545158	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.79339926742978E-5	0.002
18	21125122	T	C	18	23545158	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.1325215434209E-4	0.004
18	21125122	T	G	18	23545158	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.51419088557906E-5	0.0
18	21125123	A	C	18	23545159	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.352105944862384	0.522
18	21125123	A	G	18	23545159	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00128196673453609	0.082
18	21125123	A	T	18	23545159	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.242053927476988	0.42
18	21125124	A	C	18	23545160	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.174237664181718	0.502
18	21125124	A	G	18	23545160	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00111893103868875	0.134
18	21125124	A	T	18	23545160	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.306228665800473	0.492
18	21125125	G	A	18	23545161	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.24496319853231E-4	0.006
18	21125125	G	C	18	23545161	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.35274206789919E-4	0.106
18	21125125	G	T	18	23545161	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00197080796955583	0.11
18	21127962	T	A	18	23547998	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.90866578596279E-5	0.0
18	21127962	T	C	18	23547998	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.58915390719906E-5	0.0
18	21127962	T	G	18	23547998	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.58915390719906E-5	0.0
18	21127963	G	A	18	23547999	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.55826038199403E-4	0.002
18	21127963	G	C	18	23547999	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.0030960233099E-4	0.002
18	21127963	G	T	18	23547999	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.0030960233099E-4	0.002
18	21127964	A	C	18	23548000	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99667857717555	0.848
18	21127964	A	G	18	23548000	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.995481077929657	0.942
18	21127964	A	T	18	23548000	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99748172269423	0.764
18	21127965	C	A	18	23548001	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999937293024397	0.962
18	21127965	C	G	18	23548001	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999955013039596	0.97
18	21127965	C	T	18	23548001	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999960318116965	1.0
18	21127966	T	A	18	23548002	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999547671277191	0.93
18	21127966	T	C	18	23548002	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999537298375458	0.966
18	21127966	T	G	18	23548002	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998952600938397	0.942
18	21127967	C	A	18	23548003	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999826279498016	0.81
18	21127967	C	G	18	23548003	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999894339618242	0.852
18	21127967	C	T	18	23548003	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0067019644089112	0.078
18	21127968	A	C	18	23548004	y	y	splicing	NPC1(NM_000271:exon12:c.1757+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1757+2T>G)	.	.	0.999988247793601	0.93
18	21127968	A	G	18	23548004	y	y	splicing	NPC1(NM_000271:exon12:c.1757+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1757+2T>C)	.	.	0.999936468769846	0.866
18	21127968	A	T	18	23548004	y	y	splicing	NPC1(NM_000271:exon12:c.1757+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1757+2T>A)	.	.	0.999988247793601	0.93
18	21127969	C	A	18	23548005	y	y	splicing	NPC1(NM_000271:exon12:c.1757+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1757+1G>T)	.	.	0.999989072007339	0.934
18	21127969	C	G	18	23548005	y	y	splicing	NPC1(NM_000271:exon12:c.1757+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1757+1G>C)	.	.	0.999989072007339	0.934
18	21127969	C	T	18	23548005	y	y	splicing	NPC1(NM_000271:exon12:c.1757+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1757+1G>A)	.	.	0.999989072007339	0.934
18	21127970	T	A	18	23548006	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.A1757T:p.E586V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1757T:p.E586V;	0.483861706483333	0.45
18	21127970	T	C	18	23548006	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.A1757G:p.E586G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1757G:p.E586G;	0.332152490601206	0.336
18	21127970	T	G	18	23548006	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.A1757C:p.E586A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1757C:p.E586A;	0.392321743927284	0.616
18	21127971	C	A	18	23548007	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon11:c.G1756T:p.E586X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000269228:exon11:c.G1756T:p.E586X;	0.991930011389858	0.876
18	21127971	C	G	18	23548007	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.G1756C:p.E586Q;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.G1756C:p.E586Q;	0.994158217313771	0.766
18	21127971	C	T	18	23548007	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.G1756A:p.E586K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.G1756A:p.E586K;	0.976937542522047	0.61
18	21127972	T	A	18	23548008	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.A1755T:p.K585N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1755T:p.K585N;	0.987584879366681	0.598
18	21127972	T	C	18	23548008	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon11:c.A1755G:p.K585K;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1755G:p.K585K;	0.245251165984669	0.37
18	21127972	T	G	18	23548008	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.A1755C:p.K585N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1755C:p.K585N;	0.658906374179884	0.546
18	21128071	A	C	18	23548107	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.T1656G:p.D552E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.T1656G:p.D552E;	0.00567700474194573	0.048
18	21128071	A	G	18	23548107	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon11:c.T1656C:p.D552D;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.T1656C:p.D552D;	0.00510058173967759	0.076
18	21128071	A	T	18	23548107	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.T1656A:p.D552E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.T1656A:p.D552E;	0.00190625931536409	0.026
18	21128072	T	A	18	23548108	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.A1655T:p.D552V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1655T:p.D552V;	0.00189522305244427	0.072
18	21128072	T	C	18	23548108	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.A1655G:p.D552G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1655G:p.D552G;	1.13539479698378E-4	0.0
18	21128072	T	G	18	23548108	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon11:c.A1655C:p.D552A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon11:c.A1655C:p.D552A;	0.00115970521508587	0.016
18	21128073	C	A	18	23548109	y	y	splicing	NPC1(NM_000271:exon12:c.1655-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1655-1G>T)	.	.	0.999989072007339	0.934
18	21128073	C	G	18	23548109	y	y	splicing	NPC1(NM_000271:exon12:c.1655-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1655-1G>C)	.	.	0.999989072007339	0.934
18	21128073	C	T	18	23548109	y	y	splicing	NPC1(NM_000271:exon12:c.1655-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1655-1G>A)	.	.	0.999989072007339	0.934
18	21128074	T	A	18	23548110	y	y	splicing	NPC1(NM_000271:exon12:c.1655-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1655-2A>T)	.	.	0.999988247793601	0.93
18	21128074	T	C	18	23548110	y	y	splicing	NPC1(NM_000271:exon12:c.1655-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1655-2A>G)	.	.	0.999988247793601	0.93
18	21128074	T	G	18	23548110	y	y	splicing	NPC1(NM_000271:exon12:c.1655-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon12:c.1655-2A>C)	.	.	0.999988247793601	0.93
18	21128075	A	C	18	23548111	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.93600109884089	0.542
18	21128075	A	G	18	23548111	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.45508488481287E-4	0.046
18	21128075	A	T	18	23548111	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00776221077020302	0.184
18	21128076	G	A	18	23548112	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.04560492068056E-5	0.0
18	21128076	G	C	18	23548112	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.53693184925092E-5	0.0
18	21128076	G	T	18	23548112	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.38684278678002E-5	0.002
18	21128077	A	C	18	23548113	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.84876403017338E-4	0.182
18	21128077	A	G	18	23548113	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.95966254224992E-5	0.018
18	21128077	A	T	18	23548113	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.63937313438642E-4	0.196
18	21128078	A	C	18	23548114	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.29844426023384E-4	0.186
18	21128078	A	G	18	23548114	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.00645055684579E-4	0.008
18	21128078	A	T	18	23548114	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.65934380962723E-4	0.106
18	21128079	A	C	18	23548115	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.20393636496814E-4	0.018
18	21128079	A	G	18	23548115	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.71999790207429E-5	0.002
18	21128079	A	T	18	23548115	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.41707886102956E-4	0.03
18	21128080	G	A	18	23548116	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.42431443487598E-5	0.0
18	21128080	G	C	18	23548116	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.94060359711434E-5	0.008
18	21128080	G	T	18	23548116	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.67264852268423E-5	0.004
18	21128081	G	A	18	23548117	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.68748353251622E-5	0.0
18	21128081	G	C	18	23548117	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.47302318768074E-4	0.008
18	21128081	G	T	18	23548117	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.4085665577532E-4	0.104
18	21128082	A	C	18	23548118	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00185775852730985	0.21
18	21128082	A	G	18	23548118	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.23663473965192E-4	0.004
18	21128082	A	T	18	23548118	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.79543595128407E-4	0.164
18	21128083	A	C	18	23548119	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.08052215570892E-4	0.194
18	21128083	A	G	18	23548119	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.05983635891489E-4	0.016
18	21128083	A	T	18	23548119	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.6649604407378E-4	0.238
18	21128084	A	C	18	23548120	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00555688088347483	0.288
18	21128084	A	G	18	23548120	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00120052041488139	0.04
18	21128084	A	T	18	23548120	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0104833340552042	0.324
18	21131583	T	A	18	23551619	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.38511446188456E-4	0.004
18	21131583	T	C	18	23551619	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.46054017672216E-5	0.0
18	21131583	T	G	18	23551619	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.46054017672216E-5	0.0
18	21131584	T	A	18	23551620	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.28787216154889E-4	0.0
18	21131584	T	C	18	23551620	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.3099781559464E-4	0.0
18	21131584	T	G	18	23551620	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.3099781559464E-4	0.0
18	21131585	A	C	18	23551621	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00152353019462213	0.13
18	21131585	A	G	18	23551621	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00876044053358559	0.136
18	21131585	A	T	18	23551621	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0105667822888541	0.12
18	21131586	C	A	18	23551622	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998240376364552	0.904
18	21131586	C	G	18	23551622	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998409916078951	0.844
18	21131586	C	T	18	23551622	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998592367907181	0.922
18	21131587	T	A	18	23551623	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.741003199622089	0.556
18	21131587	T	C	18	23551623	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.650828863442888	0.534
18	21131587	T	G	18	23551623	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.501111588901042	0.456
18	21131588	T	A	18	23551624	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.160228489703623	0.376
18	21131588	T	C	18	23551624	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.67135858280905E-4	0.004
18	21131588	T	G	18	23551624	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.366966210858254	0.346
18	21131589	A	C	18	23551625	y	y	splicing	NPC1(NM_000271:exon11:c.1654+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1654+2T>G)	.	.	0.999978952611685	0.924
18	21131589	A	G	18	23551625	y	y	splicing	NPC1(NM_000271:exon11:c.1654+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1654+2T>C)	.	.	0.994635980776358	0.654
18	21131589	A	T	18	23551625	y	y	splicing	NPC1(NM_000271:exon11:c.1654+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1654+2T>A)	.	.	0.999978952611685	0.926
18	21131590	C	A	18	23551626	y	y	splicing	NPC1(NM_000271:exon11:c.1654+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1654+1G>T)	.	.	0.999986675681007	0.932
18	21131590	C	G	18	23551626	y	y	splicing	NPC1(NM_000271:exon11:c.1654+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1654+1G>C)	.	.	0.999986675681007	0.932
18	21131590	C	T	18	23551626	y	y	splicing	NPC1(NM_000271:exon11:c.1654+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1654+1G>A)	.	.	0.999986675681007	0.932
18	21131591	C	A	18	23551627	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.G1654T:p.D552Y;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1654T:p.D552Y;	0.99977371321165	0.992
18	21131591	C	G	18	23551627	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.G1654C:p.D552H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1654C:p.D552H;	0.999851573138559	0.962
18	21131591	C	T	18	23551627	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.G1654A:p.D552N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1654A:p.D552N;	0.99987966691507	0.976
18	21131592	A	C	18	23551628	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.T1653G:p.D551E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.T1653G:p.D551E;	3.87108279558721E-4	0.022
18	21131592	A	G	18	23551628	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon10:c.T1653C:p.D551D;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.T1653C:p.D551D;	7.54969518410428E-5	0.002
18	21131592	A	T	18	23551628	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.T1653A:p.D551E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.T1653A:p.D551E;	1.83746623388712E-4	0.202
18	21131593	T	A	18	23551629	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.A1652T:p.D551V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.A1652T:p.D551V;	0.802966207780442	0.292
18	21131593	T	C	18	23551629	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.A1652G:p.D551G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.A1652G:p.D551G;	0.0868579759436365	0.232
18	21131593	T	G	18	23551629	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.A1652C:p.D551A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.A1652C:p.D551A;	0.0514237267377486	0.334
18	21131690	C	A	18	23551726	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.G1555T:p.A519S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1555T:p.A519S;	0.00472104724587395	0.04
18	21131690	C	G	18	23551726	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.G1555C:p.A519P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1555C:p.A519P;	0.286870684292583	0.356
18	21131690	C	T	18	23551726	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon10:c.G1555A:p.A519T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1555A:p.A519T;	0.0337499390274027	0.17
18	21131691	C	A	18	23551727	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon10:c.G1554T:p.R518R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1554T:p.R518R;	0.235443086384862	0.476
18	21131691	C	G	18	23551727	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon10:c.G1554C:p.R518R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1554C:p.R518R;	0.0488246929942696	0.36
18	21131691	C	T	18	23551727	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon10:c.G1554A:p.R518R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon10:c.G1554A:p.R518R;	0.115640662686394	0.204
18	21131692	C	A	18	23551728	y	y	splicing	NPC1(NM_000271:exon11:c.1554-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1554-1G>T)	.	.	0.999988247793601	0.94
18	21131692	C	G	18	23551728	y	y	splicing	NPC1(NM_000271:exon11:c.1554-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1554-1G>C)	.	.	0.999988247793601	0.94
18	21131692	C	T	18	23551728	y	y	splicing	NPC1(NM_000271:exon11:c.1554-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1554-1G>A)	.	.	0.999988247793601	0.94
18	21131693	T	A	18	23551729	y	y	splicing	NPC1(NM_000271:exon11:c.1554-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1554-2A>T)	.	.	0.999992446697775	0.944
18	21131693	T	C	18	23551729	y	y	splicing	NPC1(NM_000271:exon11:c.1554-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1554-2A>G)	.	.	0.999992446697775	0.94
18	21131693	T	G	18	23551729	y	y	splicing	NPC1(NM_000271:exon11:c.1554-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon11:c.1554-2A>C)	.	.	0.999992446697775	0.94
18	21131694	G	A	18	23551730	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0501104501994853	0.238
18	21131694	G	C	18	23551730	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999828728461217	0.884
18	21131694	G	T	18	23551730	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.992564703753211	0.872
18	21131695	C	A	18	23551731	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.95416100750369E-5	0.0
18	21131695	C	G	18	23551731	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.09740216807318E-6	0.0
18	21131695	C	T	18	23551731	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.01853889904425E-5	0.006
18	21131696	C	A	18	23551732	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.74165429062335E-4	0.042
18	21131696	C	G	18	23551732	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.74165429062335E-4	0.012
18	21131696	C	T	18	23551732	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.659303534749134	0.504
18	21131697	A	C	18	23551733	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.045860153782275	0.374
18	21131697	A	G	18	23551733	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.44869960429758E-4	0.022
18	21131697	A	T	18	23551733	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999936875886502	0.976
18	21131698	A	C	18	23551734	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0019239985621011	0.084
18	21131698	A	G	18	23551734	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.26775934900819E-5	0.058
18	21131698	A	T	18	23551734	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00387479653261761	0.124
18	21131699	A	C	18	23551735	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00232580770554301	0.102
18	21131699	A	G	18	23551735	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.08845513807015E-5	0.056
18	21131699	A	T	18	23551735	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00316314218874061	0.098
18	21131700	A	C	18	23551736	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.355356211952612	0.488
18	21131700	A	G	18	23551736	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00355576458659929	0.06
18	21131700	A	T	18	23551736	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.805035049330432	0.66
18	21131701	A	C	18	23551737	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.552648935011396	0.494
18	21131701	A	G	18	23551737	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.21655619625663E-4	0.114
18	21131701	A	T	18	23551737	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.988189240181859	0.7
18	21131702	G	A	18	23551738	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.13116725179902E-4	0.004
18	21131702	G	C	18	23551738	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999906392907364	0.976
18	21131702	G	T	18	23551738	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0162783365490251	0.074
18	21131703	T	A	18	23551739	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00180264213205663	0.018
18	21131703	T	C	18	23551739	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998523815320584	0.97
18	21131703	T	G	18	23551739	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00139684133088122	0.008
18	21134714	C	A	18	23554750	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.73386572137077E-5	0.002
18	21134714	C	G	18	23554750	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.83696092051512E-5	0.0
18	21134714	C	T	18	23554750	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.73386572137077E-5	0.0
18	21134715	C	A	18	23554751	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.17952515609007E-5	0.004
18	21134715	C	G	18	23554751	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.5866100077426E-5	0.002
18	21134715	C	T	18	23554751	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.3848822340221E-5	0.008
18	21134716	A	C	18	23554752	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0247178834603395	0.312
18	21134716	A	G	18	23554752	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.121706885167383	0.448
18	21134716	A	T	18	23554752	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.116521851168499	0.422
18	21134717	C	A	18	23554753	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99480998475597	0.866
18	21134717	C	G	18	23554753	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.996367624420432	0.85
18	21134717	C	T	18	23554753	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.978897449380805	0.8
18	21134718	T	A	18	23554754	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.1436412444822	0.374
18	21134718	T	C	18	23554754	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.216303505917172	0.374
18	21134718	T	G	18	23554754	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0487912282262137	0.37
18	21134719	T	A	18	23554755	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.325097179890848	0.404
18	21134719	T	C	18	23554755	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.87475032598841E-4	0.006
18	21134719	T	G	18	23554755	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.405880791356427	0.452
18	21134720	A	C	18	23554756	y	y	splicing	NPC1(NM_000271:exon10:c.1553+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1553+2T>G;ENST00000412552:exon5:c.803+2T>G;ENST00000591051:exon5:c.835+2T>G)	.	.	0.999992752818502	0.926
18	21134720	A	G	18	23554756	y	y	splicing	NPC1(NM_000271:exon10:c.1553+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1553+2T>C;ENST00000412552:exon5:c.803+2T>C;ENST00000591051:exon5:c.835+2T>C)	.	.	0.986916358531534	0.614
18	21134720	A	T	18	23554756	y	y	splicing	NPC1(NM_000271:exon10:c.1553+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1553+2T>A;ENST00000412552:exon5:c.803+2T>A;ENST00000591051:exon5:c.835+2T>A)	.	.	0.999992752818502	0.926
18	21134721	C	A	18	23554757	y	y	splicing	NPC1(NM_000271:exon10:c.1553+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1553+1G>T;ENST00000412552:exon5:c.803+1G>T;ENST00000591051:exon5:c.835+1G>T)	.	.	0.999981760802075	0.938
18	21134721	C	G	18	23554757	y	y	splicing	NPC1(NM_000271:exon10:c.1553+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1553+1G>C;ENST00000412552:exon5:c.803+1G>C;ENST00000591051:exon5:c.835+1G>C)	.	.	0.999981760802075	0.938
18	21134721	C	T	18	23554757	y	y	splicing	NPC1(NM_000271:exon10:c.1553+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1553+1G>A;ENST00000412552:exon5:c.803+1G>A;ENST00000591051:exon5:c.835+1G>A)	.	.	0.999981760802075	0.938
18	21134722	C	A	18	23554758	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.G1553T:p.R518L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.G803T:p.R268L;ENSG00000141458:ENST00000269228:exon9:c.G1553T:p.R518L;	0.999393545118191	0.97
18	21134722	C	G	18	23554758	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.G1553C:p.R518P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.G803C:p.R268P;ENSG00000141458:ENST00000269228:exon9:c.G1553C:p.R518P;	0.999920538863831	0.978
18	21134722	C	T	18	23554758	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.G1553A:p.R518Q;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.G803A:p.R268Q;ENSG00000141458:ENST00000269228:exon9:c.G1553A:p.R518Q;	0.994121656289408	0.89
18	21134723	G	A	18	23554759	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.C1552T:p.R518W;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.C802T:p.R268W;ENSG00000141458:ENST00000269228:exon9:c.C1552T:p.R518W;	0.026039486619499	0.234
18	21134723	G	C	18	23554759	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.C1552G:p.R518G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.C802G:p.R268G;ENSG00000141458:ENST00000269228:exon9:c.C1552G:p.R518G;	0.00213871816051631	0.106
18	21134723	G	T	18	23554759	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon9:c.C1552A:p.R518R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.C802A:p.R268R;ENSG00000141458:ENST00000269228:exon9:c.C1552A:p.R518R;	2.92174903990658E-4	0.132
18	21134724	T	A	18	23554760	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon9:c.A1551T:p.V517V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.A801T:p.V267V;ENSG00000141458:ENST00000269228:exon9:c.A1551T:p.V517V;	3.28711194099881E-4	0.13
18	21134724	T	C	18	23554760	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon9:c.A1551G:p.V517V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.A801G:p.V267V;ENSG00000141458:ENST00000269228:exon9:c.A1551G:p.V517V;	1.86941764190071E-5	0.002
18	21134724	T	G	18	23554760	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon9:c.A1551C:p.V517V;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.A801C:p.V267V;ENSG00000141458:ENST00000269228:exon9:c.A1551C:p.V517V;	6.02839353222365E-6	0.006
18	21134947	A	C	18	23554983	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.T1328G:p.V443G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.T578G:p.V193G;ENSG00000141458:ENST00000269228:exon9:c.T1328G:p.V443G;	0.170244939746747	0.504
18	21134947	A	G	18	23554983	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.T1328C:p.V443A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.T578C:p.V193A;ENSG00000141458:ENST00000269228:exon9:c.T1328C:p.V443A;	0.170437220435853	0.514
18	21134947	A	T	18	23554983	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.T1328A:p.V443D;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.T578A:p.V193D;ENSG00000141458:ENST00000269228:exon9:c.T1328A:p.V443D;	0.187949205266451	0.5
18	21134948	C	A	18	23554984	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.G1327T:p.V443F;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.G577T:p.V193F;ENSG00000141458:ENST00000269228:exon9:c.G1327T:p.V443F;	0.999765938040936	0.994
18	21134948	C	G	18	23554984	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.G1327C:p.V443L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.G577C:p.V193L;ENSG00000141458:ENST00000269228:exon9:c.G1327C:p.V443L;	0.99971909118534	0.992
18	21134948	C	T	18	23554984	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon9:c.G1327A:p.V443I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon4:c.G577A:p.V193I;ENSG00000141458:ENST00000269228:exon9:c.G1327A:p.V443I;	0.997555678564629	0.8
18	21134949	C	A	18	23554985	y	y	splicing	NPC1(NM_000271:exon10:c.1327-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1327-1G>T;ENST00000412552:exon5:c.577-1G>T;ENST00000591051:exon5:c.609-1G>T)	.	.	0.999981760802075	0.94
18	21134949	C	G	18	23554985	y	y	splicing	NPC1(NM_000271:exon10:c.1327-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1327-1G>C;ENST00000412552:exon5:c.577-1G>C;ENST00000591051:exon5:c.609-1G>C)	.	.	0.999981760802075	0.94
18	21134949	C	T	18	23554985	y	y	splicing	NPC1(NM_000271:exon10:c.1327-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1327-1G>A;ENST00000412552:exon5:c.577-1G>A;ENST00000591051:exon5:c.609-1G>A)	.	.	0.999981760802075	0.94
18	21134950	T	A	18	23554986	y	y	splicing	NPC1(NM_000271:exon10:c.1327-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1327-2A>T;ENST00000412552:exon5:c.577-2A>T;ENST00000591051:exon5:c.609-2A>T)	.	.	0.999989917668626	0.928
18	21134950	T	C	18	23554986	y	y	splicing	NPC1(NM_000271:exon10:c.1327-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1327-2A>G;ENST00000412552:exon5:c.577-2A>G;ENST00000591051:exon5:c.609-2A>G)	.	.	0.999989917668626	0.928
18	21134950	T	G	18	23554986	y	y	splicing	NPC1(NM_000271:exon10:c.1327-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon10:c.1327-2A>C;ENST00000412552:exon5:c.577-2A>C;ENST00000591051:exon5:c.609-2A>C)	.	.	0.999989917668626	0.928
18	21134951	G	A	18	23554987	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0303632922833505	0.07
18	21134951	G	C	18	23554987	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999266219550997	0.92
18	21134951	G	T	18	23554987	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.922133314611724	0.602
18	21134952	A	C	18	23554988	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.51827148496476E-4	0.014
18	21134952	A	G	18	23554988	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.83559824678332E-4	0.002
18	21134952	A	T	18	23554988	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.09123194253286E-4	0.016
18	21134953	A	C	18	23554989	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.734473731079219	0.466
18	21134953	A	G	18	23554989	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0281095160558928	0.142
18	21134953	A	T	18	23554989	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.634194531160367	0.458
18	21134954	A	C	18	23554990	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0880655281242816	0.278
18	21134954	A	G	18	23554990	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.70857811337521E-5	0.0
18	21134954	A	T	18	23554990	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0249644117388105	0.156
18	21134955	G	A	18	23554991	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.55754097050511E-5	0.002
18	21134955	G	C	18	23554991	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.15666234003776E-4	0.038
18	21134955	G	T	18	23554991	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.13226724955631E-4	0.024
18	21134956	A	C	18	23554992	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0325882757583489	0.3
18	21134956	A	G	18	23554992	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.57456828304898E-4	0.002
18	21134956	A	T	18	23554992	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.141460506844968	0.278
18	21134957	A	C	18	23554993	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0151197898600712	0.464
18	21134957	A	G	18	23554993	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.3843508990011E-4	0.02
18	21134957	A	T	18	23554993	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0463562050485415	0.494
18	21134958	G	A	18	23554994	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.32462509629136E-4	0.074
18	21134958	G	C	18	23554994	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00173092553641182	0.038
18	21134958	G	T	18	23554994	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0158595922966645	0.098
18	21134959	A	C	18	23554995	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999790108212076	0.968
18	21134959	A	G	18	23554995	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0848502077851483	0.314
18	21134959	A	T	18	23554995	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.991393358142454	0.674
18	21134960	T	A	18	23554996	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0137007883656883	0.194
18	21134960	T	C	18	23554996	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.996242250057965	0.796
18	21134960	T	G	18	23554996	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00375316143772446	0.058
18	21136199	C	A	18	23556235	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.77963512005572E-4	0.0
18	21136199	C	G	18	23556235	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.78070458436137E-4	0.002
18	21136199	C	T	18	23556235	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.91335028436398E-4	0.024
18	21136200	A	C	18	23556236	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.1596319461781E-4	0.004
18	21136200	A	G	18	23556236	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.87838433744219E-4	0.006
18	21136200	A	T	18	23556236	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.87838433744219E-4	0.0
18	21136201	G	A	18	23556237	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.39388704735715E-5	0.0
18	21136201	G	C	18	23556237	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.74556842212138E-5	0.014
18	21136201	G	T	18	23556237	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.90747229333303E-5	0.0
18	21136202	G	A	18	23556238	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.84207786408194E-4	0.042
18	21136202	G	C	18	23556238	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.23946126080616E-5	0.002
18	21136202	G	T	18	23556238	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.26875188002478E-5	0.014
18	21136203	T	A	18	23556239	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.956562517222407	0.522
18	21136203	T	C	18	23556239	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.918973204615865	0.506
18	21136203	T	G	18	23556239	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.910554883996181	0.514
18	21136204	T	A	18	23556240	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999917596031747	0.986
18	21136204	T	C	18	23556240	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.997403804479289	0.934
18	21136204	T	G	18	23556240	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999935767671126	0.964
18	21136205	A	C	18	23556241	y	y	splicing	NPC1(NM_000271:exon9:c.1326+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon9:c.1326+2T>G;ENST00000412552:exon4:c.576+2T>G;ENST00000591051:exon4:c.608+2T>G)	.	.	0.999988247793601	0.932
18	21136205	A	G	18	23556241	y	y	splicing	NPC1(NM_000271:exon9:c.1326+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon9:c.1326+2T>C;ENST00000412552:exon4:c.576+2T>C;ENST00000591051:exon4:c.608+2T>C)	.	.	0.99340600729494	0.678
18	21136205	A	T	18	23556241	y	y	splicing	NPC1(NM_000271:exon9:c.1326+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon9:c.1326+2T>A;ENST00000412552:exon4:c.576+2T>A;ENST00000591051:exon4:c.608+2T>A)	.	.	0.999988247793601	0.932
18	21136206	C	A	18	23556242	y	y	splicing	NPC1(NM_000271:exon9:c.1326+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon9:c.1326+1G>T;ENST00000412552:exon4:c.576+1G>T;ENST00000591051:exon4:c.608+1G>T)	.	.	0.999990361384395	0.938
18	21136206	C	G	18	23556242	y	y	splicing	NPC1(NM_000271:exon9:c.1326+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon9:c.1326+1G>C;ENST00000412552:exon4:c.576+1G>C;ENST00000591051:exon4:c.608+1G>C)	.	.	0.999990361384395	0.938
18	21136206	C	T	18	23556242	y	y	splicing	NPC1(NM_000271:exon9:c.1326+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon9:c.1326+1G>A;ENST00000412552:exon4:c.576+1G>A;ENST00000591051:exon4:c.608+1G>A)	.	.	0.999990361384395	0.938
18	21136207	C	A	18	23556243	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.G1326T:p.Q442H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G576T:p.Q192H;ENSG00000141458:ENST00000269228:exon8:c.G1326T:p.Q442H;	0.999979958499174	0.998
18	21136207	C	G	18	23556243	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.G1326C:p.Q442H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G576C:p.Q192H;ENSG00000141458:ENST00000269228:exon8:c.G1326C:p.Q442H;	0.999997897796025	0.996
18	21136207	C	T	18	23556243	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon8:c.G1326A:p.Q442Q;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G576A:p.Q192Q;ENSG00000141458:ENST00000269228:exon8:c.G1326A:p.Q442Q;	0.999966661508256	1.0
18	21136208	T	A	18	23556244	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.A1325T:p.Q442L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A575T:p.Q192L;ENSG00000141458:ENST00000269228:exon8:c.A1325T:p.Q442L;	0.99994662349994	1.0
18	21136208	T	C	18	23556244	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.A1325G:p.Q442R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A575G:p.Q192R;ENSG00000141458:ENST00000269228:exon8:c.A1325G:p.Q442R;	0.999946454723563	0.998
18	21136208	T	G	18	23556244	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.A1325C:p.Q442P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A575C:p.Q192P;ENSG00000141458:ENST00000269228:exon8:c.A1325C:p.Q442P;	0.999902887093245	0.992
18	21136209	G	A	18	23556245	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon8:c.C1324T:p.Q442X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon3:c.C574T:p.Q192X;ENSG00000141458:ENST00000269228:exon8:c.C1324T:p.Q442X;	0.999630961067956	0.956
18	21136209	G	C	18	23556245	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.C1324G:p.Q442E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C574G:p.Q192E;ENSG00000141458:ENST00000269228:exon8:c.C1324G:p.Q442E;	0.0319806476723607	0.126
18	21136209	G	T	18	23556245	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.C1324A:p.Q442K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C574A:p.Q192K;ENSG00000141458:ENST00000269228:exon8:c.C1324A:p.Q442K;	0.851294443086265	0.694
18	21136576	T	A	18	23556612	y	n	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon8:c.A957T:p.G319G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A207T:p.G69G;ENSG00000141458:ENST00000269228:exon8:c.A957T:p.G319G;	2.9278902936186E-5	0.03
18	21136576	T	C	18	23556612	y	n	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon8:c.A957G:p.G319G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A207G:p.G69G;ENSG00000141458:ENST00000269228:exon8:c.A957G:p.G319G;	1.78840252732495E-4	0.076
18	21136576	T	G	18	23556612	y	n	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon8:c.A957C:p.G319G;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A207C:p.G69G;ENSG00000141458:ENST00000269228:exon8:c.A957C:p.G319G;	1.80253001857701E-4	0.038
18	21136577	C	A	18	23556613	y	n	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.G956T:p.G319V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G206T:p.G69V;ENSG00000141458:ENST00000269228:exon8:c.G956T:p.G319V;	0.946589059923051	0.486
18	21136577	C	G	18	23556613	y	n	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.G956C:p.G319A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G206C:p.G69A;ENSG00000141458:ENST00000269228:exon8:c.G956C:p.G319A;	0.937292830006483	0.574
18	21136577	C	T	18	23556613	y	n	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon8:c.G956A:p.G319E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G206A:p.G69E;ENSG00000141458:ENST00000269228:exon8:c.G956A:p.G319E;	0.556676413333037	0.558
18	21136578	C	A	18	23556614	y	n	splicing	NPC1(NM_000271:exon9:c.956-1G>T)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141458(ENST00000269228:exon9:c.956-1G>T)	stopgain SNV	ENSG00000141458:ENST00000412552:exon3:c.G205T:p.G69X;	0.999986675681007	0.932
18	21136578	C	G	18	23556614	y	n	splicing	NPC1(NM_000271:exon9:c.956-1G>C)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141458(ENST00000269228:exon9:c.956-1G>C)	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G205C:p.G69R;	0.999986675681007	0.932
18	21136578	C	T	18	23556614	y	n	splicing	NPC1(NM_000271:exon9:c.956-1G>A)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141458(ENST00000269228:exon9:c.956-1G>A)	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G205A:p.G69R;	0.999986675681007	0.932
18	21136579	T	A	18	23556615	y	n	splicing	NPC1(NM_000271:exon9:c.956-2A>T)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141458(ENST00000269228:exon9:c.956-2A>T)	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A204T:p.P68P;	0.999988247793601	0.928
18	21136579	T	C	18	23556615	y	n	splicing	NPC1(NM_000271:exon9:c.956-2A>G)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141458(ENST00000269228:exon9:c.956-2A>G)	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A204G:p.P68P;	0.999988247793601	0.928
18	21136579	T	G	18	23556615	y	n	splicing	NPC1(NM_000271:exon9:c.956-2A>C)	.	.	exonic;splicing	ENSG00000141458;ENSG00000141458(ENST00000269228:exon9:c.956-2A>C)	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A204C:p.P68P;	0.999988247793601	0.928
18	21136580	G	A	18	23556616	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C203T:p.P68L;	0.0203869155645389	0.146
18	21136580	G	C	18	23556616	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C203G:p.P68R;	0.999396765426925	0.894
18	21136580	G	T	18	23556616	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C203A:p.P68Q;	0.997771207826512	0.884
18	21136581	G	A	18	23556617	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C202T:p.P68S;	0.00395187220601012	0.086
18	21136581	G	C	18	23556617	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C202G:p.P68A;	0.00132073754101687	0.066
18	21136581	G	T	18	23556617	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C202A:p.P68T;	8.97979009917534E-4	0.058
18	21136582	A	C	18	23556618	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T201G:p.L67L;	0.182325636388944	0.462
18	21136582	A	G	18	23556618	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T201C:p.L67L;	0.00468586587197545	0.158
18	21136582	A	T	18	23556618	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T201A:p.L67L;	0.435240534807602	0.472
18	21136583	A	C	18	23556619	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T200G:p.L67R;	0.0923431599701604	0.178
18	21136583	A	G	18	23556619	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T200C:p.L67P;	1.84858216255328E-4	0.004
18	21136583	A	T	18	23556619	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T200A:p.L67H;	0.0414135144906508	0.168
18	21136584	G	A	18	23556620	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C199T:p.L67F;	8.18855523103924E-4	0.05
18	21136584	G	C	18	23556620	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C199G:p.L67V;	0.0164252202239035	0.246
18	21136584	G	T	18	23556620	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C199A:p.L67I;	0.00547344751806555	0.264
18	21136585	A	C	18	23556621	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T198G:p.V66V;	7.10562207122176E-5	0.034
18	21136585	A	G	18	23556621	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T198C:p.V66V;	1.11827301587676E-5	0.0
18	21136585	A	T	18	23556621	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T198A:p.V66V;	1.45203638760963E-4	0.036
18	21136586	A	C	18	23556622	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T197G:p.V66G;	8.92762161079506E-4	0.04
18	21136586	A	G	18	23556622	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T197C:p.V66A;	3.18611290795618E-5	0.026
18	21136586	A	T	18	23556622	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.T197A:p.V66D;	0.00152657137739875	0.056
18	21136587	C	A	18	23556623	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G196T:p.V66F;	1.65965658795311E-5	0.0
18	21136587	C	G	18	23556623	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G196C:p.V66L;	1.37753346783945E-5	0.0
18	21136587	C	T	18	23556623	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G196A:p.V66I;	2.277504186359E-5	0.0
18	21136588	G	A	18	23556624	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C195T:p.P65P;	1.58150250244176E-5	0.018
18	21136588	G	C	18	23556624	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C195G:p.P65P;	1.52179503245576E-4	0.054
18	21136588	G	T	18	23556624	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C195A:p.P65P;	0.998338887716513	0.986
18	21136589	G	A	18	23556625	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C194T:p.P65L;	6.92960909098736E-5	0.0
18	21136589	G	C	18	23556625	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C194G:p.P65R;	6.94105257440712E-4	0.024
18	21136589	G	T	18	23556625	y	n	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.C194A:p.P65H;	7.13442847548395E-4	0.036
18	21136627	T	A	18	23556663	n	y	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A156T:p.G52G;	2.41695466949675E-4	0.008
18	21136627	T	C	18	23556663	n	y	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A156G:p.G52G;	2.67199765429517E-4	0.002
18	21136627	T	G	18	23556663	n	y	intronic	NPC1	.	.	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.A156C:p.G52G;	2.67199765429517E-4	0.002
18	21136628	C	A	18	23556664	n	y	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G155T:p.G52V;	0.0258284440828468	0.158
18	21136628	C	G	18	23556664	n	y	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G155C:p.G52A;	9.34241895422928E-4	0.0
18	21136628	C	T	18	23556664	n	y	intronic	NPC1	.	.	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon3:c.G155A:p.G52E;	9.34241895422928E-4	0.0
18	21136629	C	A	18	23556665	n	y	intronic	NPC1	.	.	splicing	ENSG00000141458(ENST00000412552:exon4:c.155-1G>T;ENST00000591051:exon4:c.187-1G>T)	.	.	0.0252903018607856	0.142
18	21136629	C	G	18	23556665	n	y	intronic	NPC1	.	.	splicing	ENSG00000141458(ENST00000412552:exon4:c.155-1G>C;ENST00000591051:exon4:c.187-1G>C)	.	.	0.0242024976269069	0.142
18	21136629	C	T	18	23556665	n	y	intronic	NPC1	.	.	splicing	ENSG00000141458(ENST00000412552:exon4:c.155-1G>A;ENST00000591051:exon4:c.187-1G>A)	.	.	0.0252903018607856	0.158
18	21136630	T	A	18	23556666	n	y	intronic	NPC1	.	.	splicing	ENSG00000141458(ENST00000412552:exon4:c.155-2A>T;ENST00000591051:exon4:c.187-2A>T)	.	.	5.69023854450815E-5	0.084
18	21136630	T	C	18	23556666	n	y	intronic	NPC1	.	.	splicing	ENSG00000141458(ENST00000412552:exon4:c.155-2A>G;ENST00000591051:exon4:c.187-2A>G)	.	.	3.89928891443892E-5	0.046
18	21136630	T	G	18	23556666	n	y	intronic	NPC1	.	.	splicing	ENSG00000141458(ENST00000412552:exon4:c.155-2A>C;ENST00000591051:exon4:c.187-2A>C)	.	.	3.89928891443892E-5	0.046
18	21136631	G	A	18	23556667	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.34524398966751E-4	0.006
18	21136631	G	C	18	23556667	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.35938417671351E-4	0.008
18	21136631	G	T	18	23556667	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.35938417671351E-4	0.02
18	21136632	A	C	18	23556668	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.9096691494675E-4	0.002
18	21136632	A	G	18	23556668	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.9096691494675E-4	0.002
18	21136632	A	T	18	23556668	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.8898060314844E-4	0.004
18	21136633	A	C	18	23556669	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.84209062630086E-4	0.004
18	21136633	A	G	18	23556669	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.84209062630086E-4	0.004
18	21136633	A	T	18	23556669	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.84209062630086E-4	0.004
18	21136634	A	C	18	23556670	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.99386371585593E-4	0.004
18	21136634	A	G	18	23556670	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.99386371585593E-4	0.004
18	21136634	A	T	18	23556670	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.99386371585593E-4	0.018
18	21136635	G	A	18	23556671	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00593551523835079	0.014
18	21136635	G	C	18	23556671	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0045570744467009	0.018
18	21136635	G	T	18	23556671	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00593551523835079	0.018
18	21136636	T	A	18	23556672	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00122103863073255	0.0
18	21136636	T	C	18	23556672	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0012338591716885	0.0
18	21136636	T	G	18	23556672	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0012338591716885	0.0
18	21136637	C	A	18	23556673	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.21585938585243E-5	0.0
18	21136637	C	G	18	23556673	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.21585938585243E-5	0.0
18	21136637	C	T	18	23556673	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.21585938585243E-5	0.0
18	21136638	G	A	18	23556674	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.24271619346451E-4	0.006
18	21136638	G	C	18	23556674	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.13764712717274E-4	0.002
18	21136638	G	T	18	23556674	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.0306498048882E-4	0.006
18	21136639	G	A	18	23556675	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00593551523835079	0.024
18	21136639	G	C	18	23556675	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00593551523835079	0.028
18	21136639	G	T	18	23556675	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00593551523835079	0.024
18	21136640	A	C	18	23556676	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.52890291525637E-4	0.002
18	21136640	A	G	18	23556676	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.52890291525637E-4	0.002
18	21136640	A	T	18	23556676	n	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.01390907494791E-4	0.006
18	21137073	A	C	18	23557109	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.83976223781185E-5	0.0
18	21137073	A	G	18	23557109	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.48817132992849E-4	0.002
18	21137073	A	T	18	23557109	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.05735966814675E-4	0.004
18	21137074	T	A	18	23557110	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.17692494894312E-4	0.014
18	21137074	T	C	18	23557110	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.67980847962818E-4	0.032
18	21137074	T	G	18	23557110	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.39303095037746E-4	0.014
18	21137075	G	A	18	23557111	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.66263485303142E-5	0.01
18	21137075	G	C	18	23557111	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.84335878288683E-5	0.028
18	21137075	G	T	18	23557111	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.0910067457268E-4	0.014
18	21137076	C	A	18	23557112	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999885466001816	0.824
18	21137076	C	G	18	23557112	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998411549166158	0.788
18	21137076	C	T	18	23557112	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998095351641714	0.692
18	21137077	C	A	18	23557113	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00211673839230497	0.092
18	21137077	C	G	18	23557113	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0036545185616233	0.188
18	21137077	C	T	18	23557113	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.50538365840432E-4	0.048
18	21137078	T	A	18	23557114	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.997549976167092	0.906
18	21137078	T	C	18	23557114	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.718961338294219	0.676
18	21137078	T	G	18	23557114	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.997290509380338	0.896
18	21137079	A	C	18	23557115	y	y	splicing	NPC1(NM_000271:exon8:c.955+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.955+2T>G;ENST00000412552:exon3:c.154+2T>G;ENST00000591051:exon3:c.186+2T>G)	.	.	0.999988247793601	0.93
18	21137079	A	G	18	23557115	y	y	splicing	NPC1(NM_000271:exon8:c.955+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.955+2T>C;ENST00000412552:exon3:c.154+2T>C;ENST00000591051:exon3:c.186+2T>C)	.	.	0.994669226766359	0.666
18	21137079	A	T	18	23557115	y	y	splicing	NPC1(NM_000271:exon8:c.955+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.955+2T>A;ENST00000412552:exon3:c.154+2T>A;ENST00000591051:exon3:c.186+2T>A)	.	.	0.999988247793601	0.93
18	21137080	C	A	18	23557116	y	y	splicing	NPC1(NM_000271:exon8:c.955+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.955+1G>T;ENST00000412552:exon3:c.154+1G>T;ENST00000591051:exon3:c.186+1G>T)	.	.	0.999989072007339	0.934
18	21137080	C	G	18	23557116	y	y	splicing	NPC1(NM_000271:exon8:c.955+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.955+1G>C;ENST00000412552:exon3:c.154+1G>C;ENST00000591051:exon3:c.186+1G>C)	.	.	0.999989072007339	0.934
18	21137080	C	T	18	23557116	y	y	splicing	NPC1(NM_000271:exon8:c.955+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.955+1G>A;ENST00000412552:exon3:c.154+1G>A;ENST00000591051:exon3:c.186+1G>A)	.	.	0.999989072007339	0.934
18	21137081	C	A	18	23557117	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon7:c.G955T:p.G319X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon2:c.G154T:p.G52X;ENSG00000141458:ENST00000269228:exon7:c.G955T:p.G319X;	0.999977128644739	0.986
18	21137081	C	G	18	23557117	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.G955C:p.G319R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.G154C:p.G52R;ENSG00000141458:ENST00000269228:exon7:c.G955C:p.G319R;	0.999983367560178	0.998
18	21137081	C	T	18	23557117	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.G955A:p.G319R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.G154A:p.G52R;ENSG00000141458:ENST00000269228:exon7:c.G955A:p.G319R;	0.999910767340501	0.982
18	21137082	T	A	18	23557118	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A954T:p.K318N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A153T:p.K51N;ENSG00000141458:ENST00000269228:exon7:c.A954T:p.K318N;	0.986147994182991	0.926
18	21137082	T	C	18	23557118	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon7:c.A954G:p.K318K;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A153G:p.K51K;ENSG00000141458:ENST00000269228:exon7:c.A954G:p.K318K;	0.99891117898173	0.998
18	21137082	T	G	18	23557118	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A954C:p.K318N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A153C:p.K51N;ENSG00000141458:ENST00000269228:exon7:c.A954C:p.K318N;	0.923270689463616	0.744
18	21137083	T	A	18	23557119	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A953T:p.K318I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A152T:p.K51I;ENSG00000141458:ENST00000269228:exon7:c.A953T:p.K318I;	0.0171247348901669	0.484
18	21137083	T	C	18	23557119	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A953G:p.K318R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A152G:p.K51R;ENSG00000141458:ENST00000269228:exon7:c.A953G:p.K318R;	3.0548109868402E-4	0.03
18	21137083	T	G	18	23557119	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A953C:p.K318T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A152C:p.K51T;ENSG00000141458:ENST00000269228:exon7:c.A953C:p.K318T;	6.45663044943318E-5	0.002
18	21137153	T	A	18	23557189	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon7:c.A883T:p.K295X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon2:c.A82T:p.K28X;ENSG00000141458:ENST00000269228:exon7:c.A883T:p.K295X;	0.85278149189517	0.808
18	21137153	T	C	18	23557189	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A883G:p.K295E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A82G:p.K28E;ENSG00000141458:ENST00000269228:exon7:c.A883G:p.K295E;	0.762188831462258	0.606
18	21137153	T	G	18	23557189	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A883C:p.K295Q;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A82C:p.K28Q;ENSG00000141458:ENST00000269228:exon7:c.A883C:p.K295Q;	0.238962963886345	0.478
18	21137154	T	A	18	23557190	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A882T:p.R294S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A81T:p.R27S;ENSG00000141458:ENST00000269228:exon7:c.A882T:p.R294S;	5.61195526681065E-5	0.148
18	21137154	T	C	18	23557190	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon7:c.A882G:p.R294R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A81G:p.R27R;ENSG00000141458:ENST00000269228:exon7:c.A882G:p.R294R;	2.65054340655418E-5	0.002
18	21137154	T	G	18	23557190	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon7:c.A882C:p.R294S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon2:c.A81C:p.R27S;ENSG00000141458:ENST00000269228:exon7:c.A882C:p.R294S;	7.29804886350795E-5	0.088
18	21137155	C	A	18	23557191	y	y	splicing	NPC1(NM_000271:exon8:c.882-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.882-1G>T;ENST00000412552:exon3:c.81-1G>T;ENST00000591051:exon3:c.113-1G>T)	.	.	0.999989072007339	0.934
18	21137155	C	G	18	23557191	y	y	splicing	NPC1(NM_000271:exon8:c.882-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.882-1G>C;ENST00000412552:exon3:c.81-1G>C;ENST00000591051:exon3:c.113-1G>C)	.	.	0.999989072007339	0.934
18	21137155	C	T	18	23557191	y	y	splicing	NPC1(NM_000271:exon8:c.882-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.882-1G>A;ENST00000412552:exon3:c.81-1G>A;ENST00000591051:exon3:c.113-1G>A)	.	.	0.999989072007339	0.934
18	21137156	T	A	18	23557192	y	y	splicing	NPC1(NM_000271:exon8:c.882-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.882-2A>T;ENST00000412552:exon3:c.81-2A>T;ENST00000591051:exon3:c.113-2A>T)	.	.	0.999988247793601	0.93
18	21137156	T	C	18	23557192	y	y	splicing	NPC1(NM_000271:exon8:c.882-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.882-2A>G;ENST00000412552:exon3:c.81-2A>G;ENST00000591051:exon3:c.113-2A>G)	.	.	0.999988247793601	0.93
18	21137156	T	G	18	23557192	y	y	splicing	NPC1(NM_000271:exon8:c.882-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon8:c.882-2A>C;ENST00000412552:exon3:c.81-2A>C;ENST00000591051:exon3:c.113-2A>C)	.	.	0.999988247793601	0.93
18	21137157	G	A	18	23557193	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.477915228675938	0.198
18	21137157	G	C	18	23557193	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999873324827332	0.964
18	21137157	G	T	18	23557193	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998828710073223	0.926
18	21137158	A	C	18	23557194	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.87295214063826E-5	0.0
18	21137158	A	G	18	23557194	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.07871208955523E-5	0.006
18	21137158	A	T	18	23557194	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.39697109473397E-4	0.036
18	21137159	A	C	18	23557195	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.961348687597776	0.654
18	21137159	A	G	18	23557195	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0851285472133578	0.182
18	21137159	A	T	18	23557195	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.892101071743255	0.694
18	21137160	A	C	18	23557196	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.292795673201868	0.346
18	21137160	A	G	18	23557196	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00257576927302551	0.092
18	21137160	A	T	18	23557196	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.262884933385178	0.304
18	21137161	A	C	18	23557197	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00119141723434397	0.126
18	21137161	A	G	18	23557197	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.25044877527636E-4	0.002
18	21137161	A	T	18	23557197	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00558966748343568	0.066
18	21137162	A	C	18	23557198	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0018229554189938	0.212
18	21137162	A	G	18	23557198	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.77471254562029E-4	0.014
18	21137162	A	T	18	23557198	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00293821032642432	0.216
18	21137163	C	A	18	23557199	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.36077018770431E-5	0.0
18	21137163	C	G	18	23557199	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.1864701649456E-5	0.002
18	21137163	C	T	18	23557199	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.26295629911754E-5	0.016
18	21137164	A	C	18	23557200	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0596857598698281	0.264
18	21137164	A	G	18	23557200	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.97839412788148E-4	0.006
18	21137164	A	T	18	23557200	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999864869338397	0.964
18	21137165	G	A	18	23557201	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.31958540988098E-5	0.0
18	21137165	G	C	18	23557201	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.23882803299194E-4	0.02
18	21137165	G	T	18	23557201	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.70833687660902E-4	0.082
18	21137166	A	C	18	23557202	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.90709206291527E-4	0.092
18	21137166	A	G	18	23557202	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.86644507513557E-5	0.0
18	21137166	A	T	18	23557202	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.28003445013144E-4	0.084
18	21140187	C	A	18	23560223	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.35428655471156E-5	0.052
18	21140187	C	G	18	23560223	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.35428655471156E-5	0.0
18	21140187	C	T	18	23560223	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.35428655471156E-5	0.006
18	21140188	T	A	18	23560224	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.19909671294817E-5	0.0
18	21140188	T	C	18	23560224	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.83316790165401E-5	0.0
18	21140188	T	G	18	23560224	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.83316790165401E-5	0.0
18	21140189	G	A	18	23560225	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.34973747313212E-5	0.004
18	21140189	G	C	18	23560225	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.65803826396776E-5	0.048
18	21140189	G	T	18	23560225	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.27255619620821E-5	0.014
18	21140190	C	A	18	23560226	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.704176327517297	0.544
18	21140190	C	G	18	23560226	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.162425804868182	0.474
18	21140190	C	T	18	23560226	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.33886895579092	0.456
18	21140191	T	A	18	23560227	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.931450188726562	0.658
18	21140191	T	C	18	23560227	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.89446837356817	0.628
18	21140191	T	G	18	23560227	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.893427251191761	0.636
18	21140192	T	A	18	23560228	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.724461062173857	0.608
18	21140192	T	C	18	23560228	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00916157679494515	0.122
18	21140192	T	G	18	23560228	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.850580358339539	0.596
18	21140193	A	C	18	23560229	y	y	splicing	NPC1(NM_000271:exon7:c.881+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.881+2T>G;ENST00000412552:exon2:c.80+2T>G;ENST00000591051:exon2:c.112+2T>G)	.	.	0.999989917668626	0.928
18	21140193	A	G	18	23560229	y	y	splicing	NPC1(NM_000271:exon7:c.881+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.881+2T>C;ENST00000412552:exon2:c.80+2T>C;ENST00000591051:exon2:c.112+2T>C)	.	.	0.993179459523591	0.632
18	21140193	A	T	18	23560229	y	y	splicing	NPC1(NM_000271:exon7:c.881+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.881+2T>A;ENST00000412552:exon2:c.80+2T>A;ENST00000591051:exon2:c.112+2T>A)	.	.	0.999989917668626	0.928
18	21140194	C	A	18	23560230	y	y	splicing	NPC1(NM_000271:exon7:c.881+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.881+1G>T;ENST00000412552:exon2:c.80+1G>T;ENST00000591051:exon2:c.112+1G>T)	.	.	0.999981760802075	0.938
18	21140194	C	G	18	23560230	y	y	splicing	NPC1(NM_000271:exon7:c.881+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.881+1G>C;ENST00000412552:exon2:c.80+1G>C;ENST00000591051:exon2:c.112+1G>C)	.	.	0.999981760802075	0.938
18	21140194	C	T	18	23560230	y	y	splicing	NPC1(NM_000271:exon7:c.881+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.881+1G>A;ENST00000412552:exon2:c.80+1G>A;ENST00000591051:exon2:c.112+1G>A)	.	.	0.999981760802075	0.938
18	21140195	C	A	18	23560231	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.G881T:p.R294I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon1:c.G80T:p.R27I;ENSG00000141458:ENST00000269228:exon6:c.G881T:p.R294I;	0.999738511495991	0.95
18	21140195	C	G	18	23560231	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.G881C:p.R294T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon1:c.G80C:p.R27T;ENSG00000141458:ENST00000269228:exon6:c.G881C:p.R294T;	0.999873698567233	0.944
18	21140195	C	T	18	23560231	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.G881A:p.R294K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon1:c.G80A:p.R27K;ENSG00000141458:ENST00000269228:exon6:c.G881A:p.R294K;	0.999190284129226	0.878
18	21140196	T	A	18	23560232	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon6:c.A880T:p.R294X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon1:c.A79T:p.R27X;ENSG00000141458:ENST00000269228:exon6:c.A880T:p.R294X;	0.990234031986559	0.602
18	21140196	T	C	18	23560232	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.A880G:p.R294G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000412552:exon1:c.A79G:p.R27G;ENSG00000141458:ENST00000269228:exon6:c.A880G:p.R294G;	0.997387920049467	0.95
18	21140196	T	G	18	23560232	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon6:c.A880C:p.R294R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon1:c.A79C:p.R27R;ENSG00000141458:ENST00000269228:exon6:c.A880C:p.R294R;	0.994653516718427	0.856
18	21140197	G	A	18	23560233	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon6:c.C879T:p.Y293Y;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000412552:exon1:c.C78T:p.Y26Y;ENSG00000141458:ENST00000269228:exon6:c.C879T:p.Y293Y;	0.365252580290369	0.292
18	21140197	G	C	18	23560233	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon6:c.C879G:p.Y293X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon1:c.C78G:p.Y26X;ENSG00000141458:ENST00000269228:exon6:c.C879G:p.Y293X;	0.0875158621659187	0.462
18	21140197	G	T	18	23560233	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon6:c.C879A:p.Y293X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000412552:exon1:c.C78A:p.Y26X;ENSG00000141458:ENST00000269228:exon6:c.C879A:p.Y293X;	0.128824881777691	0.584
18	21140443	A	C	18	23560479	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.T633G:p.D211E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon6:c.T633G:p.D211E;	1.16818344225551E-5	0.032
18	21140443	A	G	18	23560479	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon6:c.T633C:p.D211D;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon6:c.T633C:p.D211D;	2.46000676756713E-4	0.036
18	21140443	A	T	18	23560479	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.T633A:p.D211E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon6:c.T633A:p.D211E;	1.64077647407266E-5	0.06
18	21140444	T	A	18	23560480	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.A632T:p.D211V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon6:c.A632T:p.D211V;	0.444448315997179	0.49
18	21140444	T	C	18	23560480	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.A632G:p.D211G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon6:c.A632G:p.D211G;	0.63446806849597	0.678
18	21140444	T	G	18	23560480	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon6:c.A632C:p.D211A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon6:c.A632C:p.D211A;	0.509211969939582	0.674
18	21140445	C	A	18	23560481	y	y	splicing	NPC1(NM_000271:exon7:c.632-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.632-1G>T)	.	.	0.999990361384395	0.938
18	21140445	C	G	18	23560481	y	y	splicing	NPC1(NM_000271:exon7:c.632-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.632-1G>C)	.	.	0.999990361384395	0.938
18	21140445	C	T	18	23560481	y	y	splicing	NPC1(NM_000271:exon7:c.632-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.632-1G>A)	.	.	0.999990361384395	0.938
18	21140446	T	A	18	23560482	y	y	splicing	NPC1(NM_000271:exon7:c.632-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.632-2A>T)	.	.	0.999988247793601	0.93
18	21140446	T	C	18	23560482	y	y	splicing	NPC1(NM_000271:exon7:c.632-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.632-2A>G)	.	.	0.999988247793601	0.93
18	21140446	T	G	18	23560482	y	y	splicing	NPC1(NM_000271:exon7:c.632-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon7:c.632-2A>C)	.	.	0.999988247793601	0.93
18	21140447	A	C	18	23560483	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.991400620927624	0.706
18	21140447	A	G	18	23560483	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.21386184174676E-5	0.0
18	21140447	A	T	18	23560483	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.228049444567337	0.302
18	21140448	C	A	18	23560484	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.37764044069023E-5	0.0
18	21140448	C	G	18	23560484	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.33521766134221E-5	0.004
18	21140448	C	T	18	23560484	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.53472173450727E-5	0.0
18	21140449	A	C	18	23560485	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0121746777406604	0.228
18	21140449	A	G	18	23560485	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.94055519331391E-4	0.034
18	21140449	A	T	18	23560485	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999879977538404	0.9
18	21140450	G	A	18	23560486	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.51194070085195E-5	0.0
18	21140450	G	C	18	23560486	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.82378767460841E-4	0.088
18	21140450	G	T	18	23560486	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.54244918123633E-4	0.098
18	21140451	A	C	18	23560487	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00269354036913938	0.13
18	21140451	A	G	18	23560487	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.49047053782077E-4	0.0
18	21140451	A	T	18	23560487	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00354509694951298	0.112
18	21140452	A	C	18	23560488	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.61424212262356E-4	0.074
18	21140452	A	G	18	23560488	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.00405532856065E-5	0.0
18	21140452	A	T	18	23560488	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.17276101360825E-4	0.116
18	21140453	A	C	18	23560489	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00514595061696743	0.138
18	21140453	A	G	18	23560489	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.27626757317678E-4	0.012
18	21140453	A	T	18	23560489	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00885454203356502	0.136
18	21140454	G	A	18	23560490	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.75651779932412E-5	0.008
18	21140454	G	C	18	23560490	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.14453809901743E-5	0.034
18	21140454	G	T	18	23560490	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.75743890025874E-4	0.024
18	21140455	G	A	18	23560491	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.96674908985408E-5	0.0
18	21140455	G	C	18	23560491	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.02871693550799E-4	0.004
18	21140455	G	T	18	23560491	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00105731436287781	0.026
18	21140456	A	C	18	23560492	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.478682004572067	0.478
18	21140456	A	G	18	23560492	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0165148971482433	0.184
18	21140456	A	T	18	23560492	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.762509570138082	0.578
18	21141316	A	C	18	23561352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.87544548170259E-5	0.0
18	21141316	A	G	18	23561352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.81474896170976E-5	0.0
18	21141316	A	T	18	23561352	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.87544548170259E-5	0.0
18	21141317	T	A	18	23561353	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.65868307978074E-5	0.012
18	21141317	T	C	18	23561353	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.4116908782696E-5	0.006
18	21141317	T	G	18	23561353	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.01353831670777E-5	0.006
18	21141318	A	C	18	23561354	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.24521429292245E-4	0.054
18	21141318	A	G	18	23561354	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	7.67250482817026E-4	0.11
18	21141318	A	T	18	23561354	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.13312262730722E-4	0.07
18	21141319	C	A	18	23561355	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.878489302016142	0.488
18	21141319	C	G	18	23561355	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.788475676614825	0.572
18	21141319	C	T	18	23561355	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.508406763672315	0.366
18	21141320	C	A	18	23561356	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.21652282412292E-4	0.064
18	21141320	C	G	18	23561356	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.85819638651571E-4	0.06
18	21141320	C	T	18	23561356	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.27583374631682E-4	0.154
18	21141321	T	A	18	23561357	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.12323638778183	0.386
18	21141321	T	C	18	23561357	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00117900532052621	0.062
18	21141321	T	G	18	23561357	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.21382775717116	0.354
18	21141322	A	C	18	23561358	y	y	splicing	NPC1(NM_000271:exon6:c.631+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.631+2T>G)	.	.	0.999946188727699	0.94
18	21141322	A	G	18	23561358	y	y	splicing	NPC1(NM_000271:exon6:c.631+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.631+2T>C)	.	.	0.962288378467921	0.62
18	21141322	A	T	18	23561358	y	y	splicing	NPC1(NM_000271:exon6:c.631+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.631+2T>A)	.	.	0.999946188727699	0.944
18	21141323	C	A	18	23561359	y	y	splicing	NPC1(NM_000271:exon6:c.631+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.631+1G>T)	.	.	0.999938422912956	0.942
18	21141323	C	G	18	23561359	y	y	splicing	NPC1(NM_000271:exon6:c.631+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.631+1G>C)	.	.	0.999938422912956	0.946
18	21141323	C	T	18	23561359	y	y	splicing	NPC1(NM_000271:exon6:c.631+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.631+1G>A)	.	.	0.999938422912956	0.942
18	21141324	C	A	18	23561360	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon5:c.G631T:p.D211Y;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.G631T:p.D211Y;	0.999951017954652	0.994
18	21141324	C	G	18	23561360	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon5:c.G631C:p.D211H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.G631C:p.D211H;	0.999956156244534	0.96
18	21141324	C	T	18	23561360	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon5:c.G631A:p.D211N;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.G631A:p.D211N;	0.999672086836937	0.982
18	21141325	T	A	18	23561361	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon5:c.A630T:p.S210S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.A630T:p.S210S;	0.539541856638989	0.53
18	21141325	T	C	18	23561361	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon5:c.A630G:p.S210S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.A630G:p.S210S;	0.334013130285293	0.436
18	21141325	T	G	18	23561361	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon5:c.A630C:p.S210S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.A630C:p.S210S;	0.355230545079848	0.396
18	21141326	G	A	18	23561362	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon5:c.C629T:p.S210L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.C629T:p.S210L;	0.996557048530588	0.772
18	21141326	G	C	18	23561362	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon5:c.C629G:p.S210X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000269228:exon5:c.C629G:p.S210X;	0.912262766922038	0.68
18	21141326	G	T	18	23561362	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon5:c.C629A:p.S210X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000269228:exon5:c.C629A:p.S210X;	0.965561095109625	0.852
18	21141490	T	A	18	23561526	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon5:c.A465T:p.A155A;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.A465T:p.A155A;	7.04886974924178E-5	0.034
18	21141490	T	C	18	23561526	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon5:c.A465G:p.A155A;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.A465G:p.A155A;	3.93558258523845E-5	0.062
18	21141490	T	G	18	23561526	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon5:c.A465C:p.A155A;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.A465C:p.A155A;	9.0681107642224E-5	0.028
18	21141491	G	A	18	23561527	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon5:c.C464T:p.A155V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.C464T:p.A155V;	0.994341636171866	0.876
18	21141491	G	C	18	23561527	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon5:c.C464G:p.A155G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.C464G:p.A155G;	7.67297426084995E-4	0.128
18	21141491	G	T	18	23561527	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon5:c.C464A:p.A155E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon5:c.C464A:p.A155E;	0.00628066495807029	0.038
18	21141492	C	A	18	23561528	y	y	splicing	NPC1(NM_000271:exon6:c.464-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.464-1G>T)	.	.	0.999986675681007	0.932
18	21141492	C	G	18	23561528	y	y	splicing	NPC1(NM_000271:exon6:c.464-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.464-1G>C)	.	.	0.999986675681007	0.932
18	21141492	C	T	18	23561528	y	y	splicing	NPC1(NM_000271:exon6:c.464-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.464-1G>A)	.	.	0.999986675681007	0.932
18	21141493	T	A	18	23561529	y	y	splicing	NPC1(NM_000271:exon6:c.464-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.464-2A>T)	.	.	0.999988247793601	0.924
18	21141493	T	C	18	23561529	y	y	splicing	NPC1(NM_000271:exon6:c.464-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.464-2A>G)	.	.	0.999988247793601	0.924
18	21141493	T	G	18	23561529	y	y	splicing	NPC1(NM_000271:exon6:c.464-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon6:c.464-2A>C)	.	.	0.999988247793601	0.924
18	21141494	A	C	18	23561530	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.979781355478804	0.72
18	21141494	A	G	18	23561530	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.8072641287727E-5	0.002
18	21141494	A	T	18	23561530	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0166902647657043	0.352
18	21141495	G	A	18	23561531	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.44249493998902E-5	0.01
18	21141495	G	C	18	23561531	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.2209113306882E-4	0.026
18	21141495	G	T	18	23561531	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.10162243391913E-4	0.012
18	21141496	A	C	18	23561532	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0944577367390101	0.348
18	21141496	A	G	18	23561532	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00186715968731503	0.134
18	21141496	A	T	18	23561532	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0943876120043969	0.326
18	21141497	A	C	18	23561533	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0167555659202514	0.198
18	21141497	A	G	18	23561533	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.44723406510055E-4	0.092
18	21141497	A	T	18	23561533	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0188234054156026	0.19
18	21141498	G	A	18	23561534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.94135915135943E-4	0.006
18	21141498	G	C	18	23561534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00849719594261951	0.078
18	21141498	G	T	18	23561534	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00335392842388341	0.068
18	21141499	A	C	18	23561535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00532050559396769	0.076
18	21141499	A	G	18	23561535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.32475349443431E-4	0.0
18	21141499	A	T	18	23561535	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0077183766893763	0.084
18	21141500	G	A	18	23561536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.49244893544734E-5	0.034
18	21141500	G	C	18	23561536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.96722348658352E-4	0.06
18	21141500	G	T	18	23561536	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.77976546797827E-4	0.088
18	21141501	G	A	18	23561537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.40364954146036E-4	0.006
18	21141501	G	C	18	23561537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00272570934526098	0.098
18	21141501	G	T	18	23561537	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0169432837080383	0.088
18	21141502	A	C	18	23561538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0824334677861875	0.438
18	21141502	A	G	18	23561538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00719692669736834	0.082
18	21141502	A	T	18	23561538	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.275603805057922	0.51
18	21141503	A	C	18	23561539	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00629706906325646	0.114
18	21141503	A	G	18	23561539	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00101717526154077	0.076
18	21141503	A	T	18	23561539	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0257029029293265	0.186
18	21148779	T	A	18	23568815	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.73670836922299E-4	0.016
18	21148779	T	C	18	23568815	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.02147149369138E-4	0.004
18	21148779	T	G	18	23568815	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.73670836922299E-4	0.004
18	21148780	T	A	18	23568816	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.58079577932931E-4	0.01
18	21148780	T	C	18	23568816	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.3114256609145E-4	0.02
18	21148780	T	G	18	23568816	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.41591747832149E-4	0.018
18	21148781	A	C	18	23568817	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.80120038766981E-4	0.078
18	21148781	A	G	18	23568817	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00273731830173759	0.092
18	21148781	A	T	18	23568817	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00288749894443869	0.078
18	21148782	C	A	18	23568818	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.981786267933723	0.808
18	21148782	C	G	18	23568818	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.995367890007161	0.834
18	21148782	C	T	18	23568818	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.964684139390077	0.834
18	21148783	T	A	18	23568819	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.274022834706105	0.412
18	21148783	T	C	18	23568819	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.363838880815356	0.478
18	21148783	T	G	18	23568819	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.100113902295193	0.35
18	21148784	T	A	18	23568820	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.254551292976387	0.46
18	21148784	T	C	18	23568820	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.57717084809584E-4	0.006
18	21148784	T	G	18	23568820	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.814956039337596	0.512
18	21148785	A	C	18	23568821	y	y	splicing	NPC1(NM_000271:exon5:c.463+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.463+2T>G)	.	.	0.999988247793601	0.93
18	21148785	A	G	18	23568821	y	y	splicing	NPC1(NM_000271:exon5:c.463+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.463+2T>C)	.	.	0.995320650369382	0.696
18	21148785	A	T	18	23568821	y	y	splicing	NPC1(NM_000271:exon5:c.463+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.463+2T>A)	.	.	0.999988247793601	0.93
18	21148786	C	A	18	23568822	y	y	splicing	NPC1(NM_000271:exon5:c.463+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.463+1G>T)	.	.	0.999990361384395	0.938
18	21148786	C	G	18	23568822	y	y	splicing	NPC1(NM_000271:exon5:c.463+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.463+1G>C)	.	.	0.999990361384395	0.938
18	21148786	C	T	18	23568822	y	y	splicing	NPC1(NM_000271:exon5:c.463+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.463+1G>A)	.	.	0.999990361384395	0.938
18	21148787	C	A	18	23568823	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.G463T:p.A155S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.G463T:p.A155S;	0.999771708257214	0.962
18	21148787	C	G	18	23568823	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.G463C:p.A155P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.G463C:p.A155P;	0.999889626959997	0.946
18	21148787	C	T	18	23568823	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.G463A:p.A155T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.G463A:p.A155T;	0.999885291968668	0.98
18	21148788	A	C	18	23568824	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.T462G:p.N154K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.T462G:p.N154K;	5.06514749006622E-4	0.02
18	21148788	A	G	18	23568824	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon4:c.T462C:p.N154N;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.T462C:p.N154N;	1.46030320817516E-4	0.02
18	21148788	A	T	18	23568824	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.T462A:p.N154K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.T462A:p.N154K;	6.91926547105115E-5	0.068
18	21148789	T	A	18	23568825	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.A461T:p.N154I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.A461T:p.N154I;	0.106835268369884	0.17
18	21148789	T	C	18	23568825	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.A461G:p.N154S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.A461G:p.N154S;	0.00393851294303161	0.072
18	21148789	T	G	18	23568825	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.A461C:p.N154T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.A461C:p.N154T;	8.54721400455771E-4	0.024
18	21148961	A	C	18	23568997	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.T289G:p.C97G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.T289G:p.C97G;	0.820394531772713	0.62
18	21148961	A	G	18	23568997	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.T289C:p.C97R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.T289C:p.C97R;	0.513760085537669	0.622
18	21148961	A	T	18	23568997	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.T289A:p.C97S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.T289A:p.C97S;	0.800968377554207	0.616
18	21148962	T	A	18	23568998	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.A288T:p.R96S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.A288T:p.R96S;	2.08258159229464E-4	0.184
18	21148962	T	C	18	23568998	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon4:c.A288G:p.R96R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.A288G:p.R96R;	2.09925450376603E-5	0.004
18	21148962	T	G	18	23568998	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon4:c.A288C:p.R96S;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon4:c.A288C:p.R96S;	9.55155939868831E-5	0.116
18	21148963	C	A	18	23568999	y	y	splicing	NPC1(NM_000271:exon5:c.288-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.288-1G>T)	.	.	0.999990361384395	0.938
18	21148963	C	G	18	23568999	y	y	splicing	NPC1(NM_000271:exon5:c.288-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.288-1G>C)	.	.	0.999990361384395	0.938
18	21148963	C	T	18	23568999	y	y	splicing	NPC1(NM_000271:exon5:c.288-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.288-1G>A)	.	.	0.999990361384395	0.938
18	21148964	T	A	18	23569000	y	y	splicing	NPC1(NM_000271:exon5:c.288-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.288-2A>T)	.	.	0.999988247793601	0.93
18	21148964	T	C	18	23569000	y	y	splicing	NPC1(NM_000271:exon5:c.288-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.288-2A>G)	.	.	0.999988247793601	0.93
18	21148964	T	G	18	23569000	y	y	splicing	NPC1(NM_000271:exon5:c.288-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon5:c.288-2A>C)	.	.	0.999988247793601	0.93
18	21148965	A	C	18	23569001	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.989447412536473	0.712
18	21148965	A	G	18	23569001	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.55378944619457E-5	0.002
18	21148965	A	T	18	23569001	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.025775824232563	0.342
18	21148966	A	C	18	23569002	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.08346474738488E-4	0.008
18	21148966	A	G	18	23569002	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.11012331354107E-5	0.0
18	21148966	A	T	18	23569002	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.84858611577971E-5	0.002
18	21148967	A	C	18	23569003	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00301535268369781	0.222
18	21148967	A	G	18	23569003	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.44397995775566E-5	0.006
18	21148967	A	T	18	23569003	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00230611033008178	0.19
18	21148968	G	A	18	23569004	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.06504305336009E-4	0.012
18	21148968	G	C	18	23569004	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00255149267932815	0.176
18	21148968	G	T	18	23569004	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00448719306805272	0.182
18	21148969	G	A	18	23569005	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.55817052314771E-5	0.002
18	21148969	G	C	18	23569005	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.29831503048612E-4	0.026
18	21148969	G	T	18	23569005	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00100629700662901	0.086
18	21148970	A	C	18	23569006	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00115112821639201	0.116
18	21148970	A	G	18	23569006	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.18634773147927E-5	0.008
18	21148970	A	T	18	23569006	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0025838842892323	0.09
18	21148971	A	C	18	23569007	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.12592086827581E-4	0.064
18	21148971	A	G	18	23569007	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.25386146321374E-4	0.002
18	21148971	A	T	18	23569007	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00107711109343992	0.05
18	21148972	A	C	18	23569008	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00173797936757764	0.192
18	21148972	A	G	18	23569008	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.3939657909866E-4	0.006
18	21148972	A	T	18	23569008	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00667367139006943	0.162
18	21148973	A	C	18	23569009	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.48454402452416E-4	0.084
18	21148973	A	G	18	23569009	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.55222760595788E-5	0.024
18	21148973	A	T	18	23569009	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.2796279984872E-4	0.114
18	21148974	G	A	18	23569010	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.4702993130092E-5	0.014
18	21148974	G	C	18	23569010	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.996684671532951	0.954
18	21148974	G	T	18	23569010	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.73164609438887E-4	0.058
18	21152030	G	A	18	23572066	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.99258728345433E-4	0.0
18	21152030	G	C	18	23572066	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.50761421324902E-4	0.004
18	21152030	G	T	18	23572066	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.99258728345433E-4	0.0
18	21152031	A	C	18	23572067	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00151368120932931	0.002
18	21152031	A	G	18	23572067	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00189826562244825	0.002
18	21152031	A	T	18	23572067	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00253845965365828	0.0
18	21152032	A	C	18	23572068	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.2190744074714E-4	0.026
18	21152032	A	G	18	23572068	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00126198251916047	0.062
18	21152032	A	T	18	23572068	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.59962764803065E-4	0.028
18	21152033	C	A	18	23572069	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.994713639935741	0.664
18	21152033	C	G	18	23572069	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.979671881368059	0.654
18	21152033	C	T	18	23572069	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.823739072955045	0.584
18	21152034	C	A	18	23572070	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.09175439143563E-4	0.018
18	21152034	C	G	18	23572070	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.03087069712105E-4	0.014
18	21152034	C	T	18	23572070	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.19203897619809E-4	0.106
18	21152035	T	A	18	23572071	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.31901482338959	0.536
18	21152035	T	C	18	23572071	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0301727433632184	0.256
18	21152035	T	G	18	23572071	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.39064563920052	0.578
18	21152036	A	C	18	23572072	y	y	splicing	NPC1(NM_000271:exon4:c.287+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.287+2T>G)	.	.	0.999988247793601	0.93
18	21152036	A	G	18	23572072	y	y	splicing	NPC1(NM_000271:exon4:c.287+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.287+2T>C)	.	.	0.994877988051647	0.724
18	21152036	A	T	18	23572072	y	y	splicing	NPC1(NM_000271:exon4:c.287+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.287+2T>A)	.	.	0.999988247793601	0.93
18	21152037	C	A	18	23572073	y	y	splicing	NPC1(NM_000271:exon4:c.287+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.287+1G>T)	.	.	0.999990361384395	0.938
18	21152037	C	G	18	23572073	y	y	splicing	NPC1(NM_000271:exon4:c.287+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.287+1G>C)	.	.	0.999990361384395	0.938
18	21152037	C	T	18	23572073	y	y	splicing	NPC1(NM_000271:exon4:c.287+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.287+1G>A)	.	.	0.999990361384395	0.938
18	21152038	C	A	18	23572074	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.G287T:p.R96I;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.G287T:p.R96I;	0.999985007705141	0.996
18	21152038	C	G	18	23572074	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.G287C:p.R96T;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.G287C:p.R96T;	0.999992690450583	0.99
18	21152038	C	T	18	23572074	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.G287A:p.R96K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.G287A:p.R96K;	0.999975333186238	0.988
18	21152039	T	A	18	23572075	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon3:c.A286T:p.R96X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000269228:exon3:c.A286T:p.R96X;	0.999870316310346	0.976
18	21152039	T	C	18	23572075	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.A286G:p.R96G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.A286G:p.R96G;	0.999645394825351	0.994
18	21152039	T	G	18	23572075	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon3:c.A286C:p.R96R;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.A286C:p.R96R;	0.985541912128514	0.924
18	21152040	G	A	18	23572076	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon3:c.C285T:p.S95S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.C285T:p.S95S;	0.813503147103831	0.59
18	21152040	G	C	18	23572076	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon3:c.C285G:p.S95S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.C285G:p.S95S;	0.0301049790259077	0.312
18	21152040	G	T	18	23572076	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon3:c.C285A:p.S95S;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.C285A:p.S95S;	0.248848327388395	0.348
18	21152143	T	A	18	23572179	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.A182T:p.E61V;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.A182T:p.E61V;	0.24516395434628	0.508
18	21152143	T	C	18	23572179	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.A182G:p.E61G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.A182G:p.E61G;	0.87040951723433	0.622
18	21152143	T	G	18	23572179	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.A182C:p.E61A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.A182C:p.E61A;	0.659614051930335	0.67
18	21152144	C	A	18	23572180	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon3:c.G181T:p.E61X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000269228:exon3:c.G181T:p.E61X;	0.999963133546606	1.0
18	21152144	C	G	18	23572180	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.G181C:p.E61Q;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.G181C:p.E61Q;	0.998461075935091	0.826
18	21152144	C	T	18	23572180	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon3:c.G181A:p.E61K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon3:c.G181A:p.E61K;	0.998616584115318	0.708
18	21152145	C	A	18	23572181	y	y	splicing	NPC1(NM_000271:exon4:c.181-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.181-1G>T)	.	.	0.999989125585301	0.936
18	21152145	C	G	18	23572181	y	y	splicing	NPC1(NM_000271:exon4:c.181-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.181-1G>C)	.	.	0.999989125585301	0.942
18	21152145	C	T	18	23572181	y	y	splicing	NPC1(NM_000271:exon4:c.181-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.181-1G>A)	.	.	0.999989125585301	0.944
18	21152146	T	A	18	23572182	y	y	splicing	NPC1(NM_000271:exon4:c.181-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.181-2A>T)	.	.	0.999986741007567	0.942
18	21152146	T	C	18	23572182	y	y	splicing	NPC1(NM_000271:exon4:c.181-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.181-2A>G)	.	.	0.999986741007567	0.942
18	21152146	T	G	18	23572182	y	y	splicing	NPC1(NM_000271:exon4:c.181-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon4:c.181-2A>C)	.	.	0.999986741007567	0.942
18	21152147	T	A	18	23572183	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.43007436139525E-5	0.016
18	21152147	T	C	18	23572183	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.384870787468171	0.366
18	21152147	T	G	18	23572183	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.07531675171272E-4	0.098
18	21152148	T	A	18	23572184	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.48797442444256E-5	0.02
18	21152148	T	C	18	23572184	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.66041894326703E-4	0.04
18	21152148	T	G	18	23572184	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.96863772334356E-4	0.034
18	21152149	C	A	18	23572185	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.27321440330825E-5	0.046
18	21152149	C	G	18	23572185	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.19850051983676E-5	0.002
18	21152149	C	T	18	23572185	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.59989894357767E-5	0.052
18	21152150	A	C	18	23572186	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.317324169932468	0.418
18	21152150	A	G	18	23572186	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.9692156057461E-4	0.036
18	21152150	A	T	18	23572186	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999954184889143	0.93
18	21152151	G	A	18	23572187	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.49448427425065E-5	0.002
18	21152151	G	C	18	23572187	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0375396831283568	0.268
18	21152151	G	T	18	23572187	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00628386748933089	0.164
18	21152152	G	A	18	23572188	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.68572678717477E-5	0.002
18	21152152	G	C	18	23572188	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999917590756402	0.984
18	21152152	G	T	18	23572188	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00491041825702493	0.17
18	21152153	T	A	18	23572189	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.80769666264572E-5	0.0
18	21152153	T	C	18	23572189	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.97580045614531E-5	0.0
18	21152153	T	G	18	23572189	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.52822258058656E-5	0.0
18	21152154	G	A	18	23572190	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.55091258175298E-5	0.0
18	21152154	G	C	18	23572190	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.42931592969164E-4	0.084
18	21152154	G	T	18	23572190	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00650533079897489	0.074
18	21152155	A	C	18	23572191	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.979670817874319	0.702
18	21152155	A	G	18	23572191	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0217092588664928	0.346
18	21152155	A	T	18	23572191	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.992830173667592	0.722
18	21152156	A	C	18	23572192	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0288082280162784	0.378
18	21152156	A	G	18	23572192	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.2775815137306E-4	0.08
18	21152156	A	T	18	23572192	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0409589867912969	0.388
18	21153408	G	A	18	23573444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.87809060625718E-4	0.046
18	21153408	G	C	18	23573444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.87809060625718E-4	0.064
18	21153408	G	T	18	23573444	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.87809060625718E-4	0.032
18	21153409	A	C	18	23573445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.91285012458584E-4	0.008
18	21153409	A	G	18	23573445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.58754265085606E-4	0.02
18	21153409	A	T	18	23573445	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.30819145506541E-4	0.03
18	21153410	A	C	18	23573446	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.49166350790487E-4	0.132
18	21153410	A	G	18	23573446	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0051057691831461	0.208
18	21153410	A	T	18	23573446	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00315832431171859	0.238
18	21153411	C	A	18	23573447	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.975192755310363	0.74
18	21153411	C	G	18	23573447	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.967214006119019	0.746
18	21153411	C	T	18	23573447	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998417605425143	0.774
18	21153412	T	A	18	23573448	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0817275598899324	0.218
18	21153412	T	C	18	23573448	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.121888480079163	0.308
18	21153412	T	G	18	23573448	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0871353601195062	0.258
18	21153413	T	A	18	23573449	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.72483670250795	0.472
18	21153413	T	C	18	23573449	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00704908213916569	0.104
18	21153413	T	G	18	23573449	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.829935701392578	0.592
18	21153414	A	C	18	23573450	y	y	splicing	NPC1(NM_000271:exon3:c.180+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.180+2T>G)	.	.	0.999988247793601	0.928
18	21153414	A	G	18	23573450	y	y	splicing	NPC1(NM_000271:exon3:c.180+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.180+2T>C)	.	.	0.992783534660112	0.674
18	21153414	A	T	18	23573450	y	y	splicing	NPC1(NM_000271:exon3:c.180+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.180+2T>A)	.	.	0.999988247793601	0.928
18	21153415	C	A	18	23573451	y	y	splicing	NPC1(NM_000271:exon3:c.180+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.180+1G>T)	.	.	0.999985532734767	0.936
18	21153415	C	G	18	23573451	y	y	splicing	NPC1(NM_000271:exon3:c.180+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.180+1G>C)	.	.	0.999985532734767	0.936
18	21153415	C	T	18	23573451	y	y	splicing	NPC1(NM_000271:exon3:c.180+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.180+1G>A)	.	.	0.999985532734767	0.936
18	21153416	C	A	18	23573452	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.G180T:p.Q60H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.G180T:p.Q60H;	0.999588275472197	0.8
18	21153416	C	G	18	23573452	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.G180C:p.Q60H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.G180C:p.Q60H;	0.999830918386073	0.88
18	21153416	C	T	18	23573452	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon2:c.G180A:p.Q60Q;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.G180A:p.Q60Q;	0.998496650116826	0.886
18	21153417	T	A	18	23573453	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.A179T:p.Q60L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.A179T:p.Q60L;	0.987624809897745	0.66
18	21153417	T	C	18	23573453	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.A179G:p.Q60R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.A179G:p.Q60R;	0.853423941381419	0.556
18	21153417	T	G	18	23573453	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.A179C:p.Q60P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.A179C:p.Q60P;	0.991383639061194	0.712
18	21153418	G	A	18	23573454	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon2:c.C178T:p.Q60X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000269228:exon2:c.C178T:p.Q60X;	0.99660737890395	0.742
18	21153418	G	C	18	23573454	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.C178G:p.Q60E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.C178G:p.Q60E;	0.905395878255732	0.582
18	21153418	G	T	18	23573454	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.C178A:p.Q60K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.C178A:p.Q60K;	0.0196808869776933	0.1
18	21153537	A	C	18	23573573	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.T59G:p.V20G;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.T59G:p.V20G;	0.709995034315393	0.49
18	21153537	A	G	18	23573573	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.T59C:p.V20A;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.T59C:p.V20A;	0.557238234144615	0.428
18	21153537	A	T	18	23573573	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.T59A:p.V20E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.T59A:p.V20E;	0.557238234144615	0.452
18	21153538	C	A	18	23573574	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.G58T:p.V20L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.G58T:p.V20L;	0.999955790218682	0.998
18	21153538	C	G	18	23573574	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.G58C:p.V20L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.G58C:p.V20L;	0.99988899455726	0.988
18	21153538	C	T	18	23573574	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon2:c.G58A:p.V20M;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon2:c.G58A:p.V20M;	0.999167802329493	0.934
18	21153539	C	A	18	23573575	y	y	splicing	NPC1(NM_000271:exon3:c.58-1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.58-1G>T)	.	.	0.999990361384395	0.938
18	21153539	C	G	18	23573575	y	y	splicing	NPC1(NM_000271:exon3:c.58-1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.58-1G>C)	.	.	0.999990361384395	0.938
18	21153539	C	T	18	23573575	y	y	splicing	NPC1(NM_000271:exon3:c.58-1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.58-1G>A)	.	.	0.999990361384395	0.938
18	21153540	T	A	18	23573576	y	y	splicing	NPC1(NM_000271:exon3:c.58-2A>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.58-2A>T)	.	.	0.999988247793601	0.93
18	21153540	T	C	18	23573576	y	y	splicing	NPC1(NM_000271:exon3:c.58-2A>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.58-2A>G)	.	.	0.999988247793601	0.93
18	21153540	T	G	18	23573576	y	y	splicing	NPC1(NM_000271:exon3:c.58-2A>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon3:c.58-2A>C)	.	.	0.999988247793601	0.93
18	21153541	A	C	18	23573577	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.990998466815078	0.658
18	21153541	A	G	18	23573577	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.87015901555976E-5	0.006
18	21153541	A	T	18	23573577	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0078744995559756	0.252
18	21153542	C	A	18	23573578	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.62378779858057E-5	0.002
18	21153542	C	G	18	23573578	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.32457959970488E-5	0.004
18	21153542	C	T	18	23573578	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.08854543394387E-5	0.028
18	21153543	A	C	18	23573579	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.30481210930409	0.53
18	21153543	A	G	18	23573579	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.13653854111402E-4	0.028
18	21153543	A	T	18	23573579	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.99956467438563	0.846
18	21153544	G	A	18	23573580	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.20979315448442E-4	0.026
18	21153544	G	C	18	23573580	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0196696752245377	0.302
18	21153544	G	T	18	23573580	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0154634698433449	0.312
18	21153545	A	C	18	23573581	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0301724199898291	0.258
18	21153545	A	G	18	23573581	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.20100093774264E-4	0.002
18	21153545	A	T	18	23573581	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0217566558207072	0.212
18	21153546	A	C	18	23573582	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0826729240429786	0.282
18	21153546	A	G	18	23573582	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	9.10110131385793E-5	0.0
18	21153546	A	T	18	23573582	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.0797233847378728	0.262
18	21153547	A	C	18	23573583	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.59840135761316	0.448
18	21153547	A	G	18	23573583	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.48965219075963E-5	0.042
18	21153547	A	T	18	23573583	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.833684292576221	0.458
18	21153548	G	A	18	23573584	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.013182920647609	0.26
18	21153548	G	C	18	23573584	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.999827496750949	0.932
18	21153548	G	T	18	23573584	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00707450825107456	0.114
18	21153549	T	A	18	23573585	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.23106218068678E-4	0.116
18	21153549	T	C	18	23573585	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.94005226143226E-5	0.006
18	21153549	T	G	18	23573585	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	1.1740943878935E-4	0.018
18	21153550	C	A	18	23573586	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	2.79047478065345E-4	0.006
18	21153550	C	G	18	23573586	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.35889528977298E-4	0.004
18	21153550	C	T	18	23573586	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.00227405112836936	0.038
18	21166243	C	A	18	23586279	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	3.6276220982096E-4	0.026
18	21166243	C	G	18	23586279	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	5.1341976895687E-4	0.014
18	21166243	C	T	18	23586279	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.67188300169153E-4	0.022
18	21166244	C	A	18	23586280	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	8.72212578433862E-5	0.0
18	21166244	C	G	18	23586280	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.81274508837038E-4	0.006
18	21166244	C	T	18	23586280	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.16271014510914E-4	0.004
18	21166245	G	A	18	23586281	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.13050911107892E-5	0.002
18	21166245	G	C	18	23586281	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	6.34455711594538E-5	0.038
18	21166245	G	T	18	23586281	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.61740731683658E-4	0.042
18	21166246	C	A	18	23586282	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.995513836974962	0.886
18	21166246	C	G	18	23586282	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.954847677164122	0.838
18	21166246	C	T	18	23586282	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.998915609002676	0.958
18	21166247	T	A	18	23586283	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.995848999185355	0.794
18	21166247	T	C	18	23586283	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.984673158769319	0.682
18	21166247	T	G	18	23586283	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.943318176543389	0.672
18	21166248	C	A	18	23586284	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.895901948593216	0.684
18	21166248	C	G	18	23586284	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	0.696549326503327	0.706
18	21166248	C	T	18	23586284	y	y	intronic	NPC1	.	.	intronic	ENSG00000141458	.	.	4.88754177589411E-4	0.0
18	21166249	A	C	18	23586285	y	y	splicing	NPC1(NM_000271:exon2:c.57+2T>G)	.	.	splicing	ENSG00000141458(ENST00000269228:exon2:c.57+2T>G)	.	.	0.999986903042585	0.924
18	21166249	A	G	18	23586285	y	y	splicing	NPC1(NM_000271:exon2:c.57+2T>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon2:c.57+2T>C)	.	.	0.999905505873053	0.848
18	21166249	A	T	18	23586285	y	y	splicing	NPC1(NM_000271:exon2:c.57+2T>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon2:c.57+2T>A)	.	.	0.999989917668626	0.924
18	21166250	C	A	18	23586286	y	y	splicing	NPC1(NM_000271:exon2:c.57+1G>T)	.	.	splicing	ENSG00000141458(ENST00000269228:exon2:c.57+1G>T)	.	.	0.999976137096505	0.936
18	21166250	C	G	18	23586286	y	y	splicing	NPC1(NM_000271:exon2:c.57+1G>C)	.	.	splicing	ENSG00000141458(ENST00000269228:exon2:c.57+1G>C)	.	.	0.999976137096505	0.936
18	21166250	C	T	18	23586286	y	y	splicing	NPC1(NM_000271:exon2:c.57+1G>A)	.	.	splicing	ENSG00000141458(ENST00000269228:exon2:c.57+1G>A)	.	.	0.999986675681007	0.934
18	21166251	C	A	18	23586287	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon1:c.G57T:p.Q19H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon1:c.G57T:p.Q19H;	0.999658816197771	0.982
18	21166251	C	G	18	23586287	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon1:c.G57C:p.Q19H;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon1:c.G57C:p.Q19H;	0.999931801494185	0.994
18	21166251	C	T	18	23586287	y	y	exonic	NPC1	synonymous SNV	NPC1:NM_000271:exon1:c.G57A:p.Q19Q;	exonic	ENSG00000141458	synonymous SNV	ENSG00000141458:ENST00000269228:exon1:c.G57A:p.Q19Q;	0.998977193008724	0.966
18	21166252	T	A	18	23586288	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon1:c.A56T:p.Q19L;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon1:c.A56T:p.Q19L;	0.995688064657498	0.964
18	21166252	T	C	18	23586288	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon1:c.A56G:p.Q19R;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon1:c.A56G:p.Q19R;	0.958791000468536	0.85
18	21166252	T	G	18	23586288	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon1:c.A56C:p.Q19P;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon1:c.A56C:p.Q19P;	0.852564183782519	0.814
18	21166253	G	A	18	23586289	y	y	exonic	NPC1	stopgain SNV	NPC1:NM_000271:exon1:c.C55T:p.Q19X;	exonic	ENSG00000141458	stopgain SNV	ENSG00000141458:ENST00000269228:exon1:c.C55T:p.Q19X;	0.996409724037291	0.866
18	21166253	G	C	18	23586289	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon1:c.C55G:p.Q19E;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon1:c.C55G:p.Q19E;	0.0193623783489112	0.144
18	21166253	G	T	18	23586289	y	y	exonic	NPC1	nonsynonymous SNV	NPC1:NM_000271:exon1:c.C55A:p.Q19K;	exonic	ENSG00000141458	nonsynonymous SNV	ENSG00000141458:ENST00000269228:exon1:c.C55A:p.Q19K;	0.0402782469347414	0.268
18	21181272	G	A	18	23601308	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon10:c.C824T:p.A275V;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon10:c.C824T:p.A275V;ENSG00000154065:ENST00000322980:exon9:c.C725T:p.A242V;ENSG00000154065:ENST00000284207:exon9:c.C725T:p.A242V;	0.978701288875707	0.866
18	21181272	G	C	18	23601308	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon10:c.C824G:p.A275G;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon10:c.C824G:p.A275G;ENSG00000154065:ENST00000322980:exon9:c.C725G:p.A242G;ENSG00000154065:ENST00000284207:exon9:c.C725G:p.A242G;	0.853805801507829	0.576
18	21181272	G	T	18	23601308	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon10:c.C824A:p.A275D;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon10:c.C824A:p.A275D;ENSG00000154065:ENST00000322980:exon9:c.C725A:p.A242D;ENSG00000154065:ENST00000284207:exon9:c.C725A:p.A242D;	0.99322353305357	0.826
18	21181273	C	A	18	23601309	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon10:c.G823T:p.A275S;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon10:c.G823T:p.A275S;ENSG00000154065:ENST00000322980:exon9:c.G724T:p.A242S;ENSG00000154065:ENST00000284207:exon9:c.G724T:p.A242S;	0.999336628733668	0.928
18	21181273	C	G	18	23601309	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon10:c.G823C:p.A275P;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon10:c.G823C:p.A275P;ENSG00000154065:ENST00000322980:exon9:c.G724C:p.A242P;ENSG00000154065:ENST00000284207:exon9:c.G724C:p.A242P;	0.999872652665002	0.942
18	21181273	C	T	18	23601309	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon10:c.G823A:p.A275T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon10:c.G823A:p.A275T;ENSG00000154065:ENST00000322980:exon9:c.G724A:p.A242T;ENSG00000154065:ENST00000284207:exon9:c.G724A:p.A242T;	0.998975193474332	0.812
18	21181274	C	A	18	23601310	y	y	splicing	ANKRD29(NM_173505:exon11:c.823-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon11:c.823-1G>T;ENST00000284207:exon10:c.724-1G>T;ENST00000322980:exon10:c.724-1G>T;ENST00000587763:exon7:c.431-1G>T)	.	.	0.999990361384395	0.938
18	21181274	C	G	18	23601310	y	y	splicing	ANKRD29(NM_173505:exon11:c.823-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon11:c.823-1G>C;ENST00000284207:exon10:c.724-1G>C;ENST00000322980:exon10:c.724-1G>C;ENST00000587763:exon7:c.431-1G>C)	.	.	0.999990361384395	0.936
18	21181274	C	T	18	23601310	y	y	splicing	ANKRD29(NM_173505:exon11:c.823-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon11:c.823-1G>A;ENST00000284207:exon10:c.724-1G>A;ENST00000322980:exon10:c.724-1G>A;ENST00000587763:exon7:c.431-1G>A)	.	.	0.999990361384395	0.938
18	21181275	T	A	18	23601311	y	y	splicing	ANKRD29(NM_173505:exon11:c.823-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon11:c.823-2A>T;ENST00000284207:exon10:c.724-2A>T;ENST00000322980:exon10:c.724-2A>T;ENST00000587763:exon7:c.431-2A>T)	.	.	0.999988247793601	0.928
18	21181275	T	C	18	23601311	y	y	splicing	ANKRD29(NM_173505:exon11:c.823-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon11:c.823-2A>G;ENST00000284207:exon10:c.724-2A>G;ENST00000322980:exon10:c.724-2A>G;ENST00000587763:exon7:c.431-2A>G)	.	.	0.999988247793601	0.928
18	21181275	T	G	18	23601311	y	y	splicing	ANKRD29(NM_173505:exon11:c.823-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon11:c.823-2A>C;ENST00000284207:exon10:c.724-2A>C;ENST00000322980:exon10:c.724-2A>C;ENST00000587763:exon7:c.431-2A>C)	.	.	0.999988247793601	0.928
18	21181276	G	A	18	23601312	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00384923207146532	0.024
18	21181276	G	C	18	23601312	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998839353943177	0.89
18	21181276	G	T	18	23601312	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.834293017097235	0.54
18	21181277	A	C	18	23601313	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.19378103247473E-5	0.056
18	21181277	A	G	18	23601313	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.25506474607329E-4	0.098
18	21181277	A	T	18	23601313	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.18380080556382E-4	0.006
18	21181278	A	C	18	23601314	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.582824357235889	0.634
18	21181278	A	G	18	23601314	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.109154318123701	0.348
18	21181278	A	T	18	23601314	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.6500441453584	0.65
18	21181279	A	C	18	23601315	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0157366325083599	0.15
18	21181279	A	G	18	23601315	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.25345643217844E-4	0.008
18	21181279	A	T	18	23601315	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0132047682124968	0.186
18	21181280	G	A	18	23601316	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.14025958801221E-5	0.034
18	21181280	G	C	18	23601316	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.95701293429913E-4	0.058
18	21181280	G	T	18	23601316	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.03908366137319E-4	0.08
18	21181281	A	C	18	23601317	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00108774716790009	0.052
18	21181281	A	G	18	23601317	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00198265591981596	0.014
18	21181281	A	T	18	23601317	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00333450845970667	0.072
18	21181282	A	C	18	23601318	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0077716519011152	0.136
18	21181282	A	G	18	23601318	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00135360962587032	0.058
18	21181282	A	T	18	23601318	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0077716519011152	0.176
18	21181283	G	A	18	23601319	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.92779973845469E-4	0.016
18	21181283	G	C	18	23601319	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00543262528806023	0.088
18	21181283	G	T	18	23601319	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0157519628156203	0.134
18	21181284	A	C	18	23601320	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.39473306389502E-4	0.14
18	21181284	A	G	18	23601320	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.90508720286381E-4	0.048
18	21181284	A	T	18	23601320	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00162156018340401	0.158
18	21181285	G	A	18	23601321	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.21862686525977E-5	0.0
18	21181285	G	C	18	23601321	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.89749405930579E-5	0.008
18	21181285	G	T	18	23601321	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.20586660005183E-4	0.02
18	21189180	T	A	18	23609216	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.17601508165304E-5	0.0
18	21189180	T	C	18	23609216	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.17601508165304E-5	0.0
18	21189180	T	G	18	23609216	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.17601508165304E-5	0.0
18	21189181	T	A	18	23609217	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.17601508165304E-5	0.0
18	21189181	T	C	18	23609217	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.17601508165304E-5	0.0
18	21189181	T	G	18	23609217	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.17601508165304E-5	0.0
18	21189182	G	A	18	23609218	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189182	G	C	18	23609218	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.82779041686858E-5	0.0
18	21189182	G	T	18	23609218	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189183	C	A	18	23609219	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189183	C	G	18	23609219	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189183	C	T	18	23609219	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189184	A	C	18	23609220	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.00203998906451E-5	0.0
18	21189184	A	G	18	23609220	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.00203998906451E-5	0.0
18	21189184	A	T	18	23609220	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.66016274657729E-5	0.0
18	21189185	G	A	18	23609221	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189185	G	C	18	23609221	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189185	G	T	18	23609221	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189186	A	C	18	23609222	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.430+2T>G)	.	.	8.66016274657729E-5	0.0
18	21189186	A	G	18	23609222	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.430+2T>C)	.	.	8.66016274657729E-5	0.0
18	21189186	A	T	18	23609222	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.430+2T>A)	.	.	1.00768442342782E-4	0.0
18	21189187	C	A	18	23609223	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.430+1G>T)	.	.	2.65673685462854E-5	0.0
18	21189187	C	G	18	23609223	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.430+1G>C)	.	.	2.65673685462854E-5	0.0
18	21189187	C	T	18	23609223	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.430+1G>A)	.	.	3.8184600552869E-5	0.0
18	21189188	C	A	18	23609224	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189188	C	G	18	23609224	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	2.65673685462854E-5	0.0
18	21189188	C	T	18	23609224	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	5.50959430272079E-5	0.0
18	21189189	T	A	18	23609225	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	1.41779379968969E-4	0.0
18	21189189	T	C	18	23609225	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	1.00768442342782E-4	0.0
18	21189189	T	G	18	23609225	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	1.00768442342782E-4	0.0
18	21189190	T	A	18	23609226	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	1.43311948012053E-4	0.002
18	21189190	T	C	18	23609226	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	1.00768442342782E-4	0.006
18	21189190	T	G	18	23609226	n	y	intronic	ANKRD29	.	.	UTR3	ENSG00000154065	.	.	1.41779379968969E-4	0.022
18	21189254	A	C	18	23609290	n	y	intronic	ANKRD29	.	.	exonic	ENSG00000154065	unknown	UNKNOWN	2.84210345675169E-4	0.0
18	21189254	A	G	18	23609290	n	y	intronic	ANKRD29	.	.	exonic	ENSG00000154065	unknown	UNKNOWN	2.84210345675169E-4	0.0
18	21189254	A	T	18	23609290	n	y	intronic	ANKRD29	.	.	exonic	ENSG00000154065	unknown	UNKNOWN	4.64836908625616E-4	0.006
18	21189255	C	A	18	23609291	n	y	intronic	ANKRD29	.	.	exonic	ENSG00000154065	unknown	UNKNOWN	1.80827582169171E-4	0.0
18	21189255	C	G	18	23609291	n	y	intronic	ANKRD29	.	.	exonic	ENSG00000154065	unknown	UNKNOWN	1.80827582169171E-4	0.008
18	21189255	C	T	18	23609291	n	y	intronic	ANKRD29	.	.	exonic	ENSG00000154065	unknown	UNKNOWN	1.80827582169171E-4	0.0
18	21189256	C	A	18	23609292	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.363-1G>T)	.	.	1.80827582169171E-4	0.0
18	21189256	C	G	18	23609292	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.363-1G>C)	.	.	1.80827582169171E-4	0.002
18	21189256	C	T	18	23609292	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.363-1G>A)	.	.	1.80827582169171E-4	0.0
18	21189257	T	A	18	23609293	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.363-2A>T)	.	.	4.64836908625616E-4	0.048
18	21189257	T	C	18	23609293	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.363-2A>G)	.	.	3.35671052470173E-4	0.006
18	21189257	T	G	18	23609293	n	y	intronic	ANKRD29	.	.	splicing	ENSG00000154065(ENST00000587763:exon6:c.363-2A>C)	.	.	3.35671052470173E-4	0.006
18	21189258	A	C	18	23609294	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.35671052470173E-4	0.006
18	21189258	A	G	18	23609294	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.35671052470173E-4	0.006
18	21189258	A	T	18	23609294	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.042
18	21189259	G	A	18	23609295	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189259	G	C	18	23609295	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189259	G	T	18	23609295	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189260	A	C	18	23609296	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.01
18	21189260	A	G	18	23609296	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.006
18	21189260	A	T	18	23609296	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.05
18	21189261	A	C	18	23609297	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.012
18	21189261	A	G	18	23609297	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.012
18	21189261	A	T	18	23609297	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.056
18	21189262	A	C	18	23609298	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.014
18	21189262	A	G	18	23609298	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.012
18	21189262	A	T	18	23609298	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.052
18	21189263	C	A	18	23609299	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189263	C	G	18	23609299	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189263	C	T	18	23609299	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189264	A	C	18	23609300	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.014
18	21189264	A	G	18	23609300	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.012
18	21189264	A	T	18	23609300	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.05
18	21189265	G	A	18	23609301	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189265	G	C	18	23609301	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189265	G	T	18	23609301	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.80827582169171E-4	0.0
18	21189266	A	C	18	23609302	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.072
18	21189266	A	G	18	23609302	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.048
18	21189266	A	T	18	23609302	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.044
18	21189267	A	C	18	23609303	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.032
18	21189267	A	G	18	23609303	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.014
18	21189267	A	T	18	23609303	n	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.64836908625616E-4	0.046
18	21192048	G	A	18	23612084	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.2354209369384E-5	0.0
18	21192048	G	C	18	23612084	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.97176721390478E-4	0.002
18	21192048	G	T	18	23612084	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.18555947136728E-4	0.002
18	21192049	T	A	18	23612085	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.93462738545505E-4	0.002
18	21192049	T	C	18	23612085	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.11013495041828E-4	0.0
18	21192049	T	G	18	23612085	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.3354942167043E-5	0.0
18	21192050	G	A	18	23612086	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.64183277196454E-5	0.004
18	21192050	G	C	18	23612086	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.71183700231375E-5	0.002
18	21192050	G	T	18	23612086	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.64252430562544E-4	0.036
18	21192051	G	A	18	23612087	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.96919616491479E-4	0.076
18	21192051	G	C	18	23612087	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.287017869608E-4	0.082
18	21192051	G	T	18	23612087	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.0469088377409E-5	0.084
18	21192052	G	A	18	23612088	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.91949576880768E-4	0.118
18	21192052	G	C	18	23612088	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.31630399905423E-4	0.098
18	21192052	G	T	18	23612088	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.59936505448939E-5	0.038
18	21192053	T	A	18	23612089	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999984638566959	0.972
18	21192053	T	C	18	23612089	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.980981986181196	0.854
18	21192053	T	G	18	23612089	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999961897717411	0.966
18	21192054	A	C	18	23612090	y	y	splicing	ANKRD29(NM_173505:exon10:c.822+2T>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.822+2T>G;ENST00000587763:exon5:c.362+2T>G)	.	.	0.999992446697775	0.932
18	21192054	A	G	18	23612090	y	y	splicing	ANKRD29(NM_173505:exon10:c.822+2T>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.822+2T>C;ENST00000587763:exon5:c.362+2T>C)	.	.	0.993808943985639	0.636
18	21192054	A	T	18	23612090	y	y	splicing	ANKRD29(NM_173505:exon10:c.822+2T>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.822+2T>A;ENST00000587763:exon5:c.362+2T>A)	.	.	0.999992446697775	0.932
18	21192055	C	A	18	23612091	y	y	splicing	ANKRD29(NM_173505:exon10:c.822+1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.822+1G>T;ENST00000587763:exon5:c.362+1G>T)	.	.	0.999988247793601	0.928
18	21192055	C	G	18	23612091	y	y	splicing	ANKRD29(NM_173505:exon10:c.822+1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.822+1G>C;ENST00000587763:exon5:c.362+1G>C)	.	.	0.999988247793601	0.928
18	21192055	C	T	18	23612091	y	y	splicing	ANKRD29(NM_173505:exon10:c.822+1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.822+1G>A;ENST00000587763:exon5:c.362+1G>A)	.	.	0.999988247793601	0.928
18	21192056	C	A	18	23612092	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.G822T:p.K274N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.G822T:p.K274N;	0.999993181392652	0.994
18	21192056	C	G	18	23612092	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.G822C:p.K274N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.G822C:p.K274N;	0.999996691468893	0.99
18	21192056	C	T	18	23612092	y	y	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon9:c.G822A:p.K274K;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.G822A:p.K274K;	0.999981304365533	1.0
18	21192057	T	A	18	23612093	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A821T:p.K274M;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A821T:p.K274M;	0.99988957718571	0.998
18	21192057	T	C	18	23612093	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A821G:p.K274R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A821G:p.K274R;	0.999894363453153	1.0
18	21192057	T	G	18	23612093	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A821C:p.K274T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A821C:p.K274T;	0.999837201292106	0.994
18	21192058	T	A	18	23612094	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon9:c.A820T:p.K274X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon9:c.A820T:p.K274X;	0.997538660265614	0.74
18	21192058	T	C	18	23612094	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A820G:p.K274E;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A820G:p.K274E;	0.217506652468674	0.436
18	21192058	T	G	18	23612094	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A820C:p.K274Q;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A820C:p.K274Q;	0.031223447808707	0.196
18	21192153	T	A	18	23612189	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A725T:p.N242I;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A725T:p.N242I;	0.721906451101562	0.702
18	21192153	T	C	18	23612189	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A725G:p.N242S;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A725G:p.N242S;	0.0280483969324453	0.058
18	21192153	T	G	18	23612189	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A725C:p.N242T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A725C:p.N242T;	0.177154123838211	0.318
18	21192154	T	A	18	23612190	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A724T:p.N242Y;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A724T:p.N242Y;	0.29222315362958	0.46
18	21192154	T	C	18	23612190	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A724G:p.N242D;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A724G:p.N242D;	0.545259069673165	0.408
18	21192154	T	G	18	23612190	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon9:c.A724C:p.N242H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon9:c.A724C:p.N242H;	0.29222315362958	0.544
18	21192155	C	A	18	23612191	y	y	splicing	ANKRD29(NM_173505:exon10:c.724-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.724-1G>T;ENST00000587763:exon5:c.264-1G>T)	.	.	0.999988247793601	0.934
18	21192155	C	G	18	23612191	y	y	splicing	ANKRD29(NM_173505:exon10:c.724-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.724-1G>C;ENST00000587763:exon5:c.264-1G>C)	.	.	0.999988247793601	0.934
18	21192155	C	T	18	23612191	y	y	splicing	ANKRD29(NM_173505:exon10:c.724-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.724-1G>A;ENST00000587763:exon5:c.264-1G>A)	.	.	0.999988247793601	0.934
18	21192156	T	A	18	23612192	y	y	splicing	ANKRD29(NM_173505:exon10:c.724-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.724-2A>T;ENST00000587763:exon5:c.264-2A>T)	.	.	0.999993519952936	0.928
18	21192156	T	C	18	23612192	y	y	splicing	ANKRD29(NM_173505:exon10:c.724-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.724-2A>G;ENST00000587763:exon5:c.264-2A>G)	.	.	0.999993519952936	0.928
18	21192156	T	G	18	23612192	y	y	splicing	ANKRD29(NM_173505:exon10:c.724-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon10:c.724-2A>C;ENST00000587763:exon5:c.264-2A>C)	.	.	0.999993519952936	0.928
18	21192157	A	C	18	23612193	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998724406021706	0.83
18	21192157	A	G	18	23612193	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00223675218039114	0.028
18	21192157	A	T	18	23612193	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.708468960912521	0.47
18	21192158	A	C	18	23612194	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.68660864014727E-4	0.0
18	21192158	A	G	18	23612194	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.81308209905755E-5	0.006
18	21192158	A	T	18	23612194	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.51869393357073E-5	0.0
18	21192159	G	A	18	23612195	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.76065448522595E-5	0.004
18	21192159	G	C	18	23612195	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00540679695474926	0.15
18	21192159	G	T	18	23612195	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00293589085886485	0.112
18	21192160	A	C	18	23612196	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.146127300690427	0.336
18	21192160	A	G	18	23612196	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00303110667061607	0.04
18	21192160	A	T	18	23612196	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.136037998034486	0.312
18	21192161	G	A	18	23612197	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.00506977399501E-4	0.018
18	21192161	G	C	18	23612197	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.01793541691762	0.094
18	21192161	G	T	18	23612197	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0194568477524094	0.092
18	21192162	A	C	18	23612198	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00396791458167809	0.142
18	21192162	A	G	18	23612198	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.79705530966241E-4	0.012
18	21192162	A	T	18	23612198	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00198266729831226	0.092
18	21192163	A	C	18	23612199	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00182388306722007	0.122
18	21192163	A	G	18	23612199	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.37186371540255E-4	0.112
18	21192163	A	T	18	23612199	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0026003612816611	0.132
18	21192164	A	C	18	23612200	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.221439039223807	0.174
18	21192164	A	G	18	23612200	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00199380156702996	0.03
18	21192164	A	T	18	23612200	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.487238685740866	0.242
18	21192165	A	C	18	23612201	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999926707063761	0.964
18	21192165	A	G	18	23612201	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00777857296954546	0.226
18	21192165	A	T	18	23612201	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.305601640887733	0.426
18	21192166	T	A	18	23612202	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.33089133542627E-5	0.0
18	21192166	T	C	18	23612202	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.90428413925386E-5	0.028
18	21192166	T	G	18	23612202	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.85682492876482E-6	0.0
18	21197688	G	A	18	23617724	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.76074896990115E-5	0.0
18	21197688	G	C	18	23617724	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.55453923326756E-5	0.01
18	21197688	G	T	18	23617724	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.55453923326756E-5	0.004
18	21197689	G	A	18	23617725	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.66713233202598E-5	0.004
18	21197689	G	C	18	23617725	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.64422919707249E-5	0.0
18	21197689	G	T	18	23617725	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.26351327206822E-4	0.012
18	21197690	T	A	18	23617726	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.72388174591673E-4	0.008
18	21197690	T	C	18	23617726	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.92515004675699E-4	0.016
18	21197690	T	G	18	23617726	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00155028547356606	0.044
18	21197691	C	A	18	23617727	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.939232926101381	0.536
18	21197691	C	G	18	23617727	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.88916275575624	0.552
18	21197691	C	T	18	23617727	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.983337455075047	0.642
18	21197692	T	A	18	23617728	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.183922585997166	0.248
18	21197692	T	C	18	23617728	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.489754618477542	0.404
18	21197692	T	G	18	23617728	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.149819331581937	0.284
18	21197693	T	A	18	23617729	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998762825536481	0.968
18	21197693	T	C	18	23617729	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.766620627734413	0.522
18	21197693	T	G	18	23617729	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998843752337139	0.97
18	21197694	A	C	18	23617730	y	y	splicing	ANKRD29(NM_173505:exon9:c.723+2T>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.723+2T>G;ENST00000284207:exon9:c.723+2T>G;ENST00000322980:exon9:c.723+2T>G;ENST00000587763:exon4:c.263+2T>G)	.	.	0.999988247793601	0.928
18	21197694	A	G	18	23617730	y	y	splicing	ANKRD29(NM_173505:exon9:c.723+2T>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.723+2T>C;ENST00000284207:exon9:c.723+2T>C;ENST00000322980:exon9:c.723+2T>C;ENST00000587763:exon4:c.263+2T>C)	.	.	0.986973409415639	0.642
18	21197694	A	T	18	23617730	y	y	splicing	ANKRD29(NM_173505:exon9:c.723+2T>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.723+2T>A;ENST00000284207:exon9:c.723+2T>A;ENST00000322980:exon9:c.723+2T>A;ENST00000587763:exon4:c.263+2T>A)	.	.	0.999988247793601	0.928
18	21197695	C	A	18	23617731	y	y	splicing	ANKRD29(NM_173505:exon9:c.723+1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.723+1G>T;ENST00000284207:exon9:c.723+1G>T;ENST00000322980:exon9:c.723+1G>T;ENST00000587763:exon4:c.263+1G>T)	.	.	0.999989072007339	0.934
18	21197695	C	G	18	23617731	y	y	splicing	ANKRD29(NM_173505:exon9:c.723+1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.723+1G>C;ENST00000284207:exon9:c.723+1G>C;ENST00000322980:exon9:c.723+1G>C;ENST00000587763:exon4:c.263+1G>C)	.	.	0.999989072007339	0.934
18	21197695	C	T	18	23617731	y	y	splicing	ANKRD29(NM_173505:exon9:c.723+1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.723+1G>A;ENST00000284207:exon9:c.723+1G>A;ENST00000322980:exon9:c.723+1G>A;ENST00000587763:exon4:c.263+1G>A)	.	.	0.999989072007339	0.934
18	21197696	C	A	18	23617732	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.G723T:p.K241N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.G723T:p.K241N;ENSG00000154065:ENST00000322980:exon8:c.G723T:p.K241N;ENSG00000154065:ENST00000284207:exon8:c.G723T:p.K241N;	0.99993886434531	0.958
18	21197696	C	G	18	23617732	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.G723C:p.K241N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.G723C:p.K241N;ENSG00000154065:ENST00000322980:exon8:c.G723C:p.K241N;ENSG00000154065:ENST00000284207:exon8:c.G723C:p.K241N;	0.999904534709285	0.928
18	21197696	C	T	18	23617732	y	y	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon8:c.G723A:p.K241K;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.G723A:p.K241K;ENSG00000154065:ENST00000322980:exon8:c.G723A:p.K241K;ENSG00000154065:ENST00000284207:exon8:c.G723A:p.K241K;	0.999492401310747	0.956
18	21197697	T	A	18	23617733	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.A722T:p.K241M;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.A722T:p.K241M;ENSG00000154065:ENST00000322980:exon8:c.A722T:p.K241M;ENSG00000154065:ENST00000284207:exon8:c.A722T:p.K241M;	0.987627445936329	0.658
18	21197697	T	C	18	23617733	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.A722G:p.K241R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.A722G:p.K241R;ENSG00000154065:ENST00000322980:exon8:c.A722G:p.K241R;ENSG00000154065:ENST00000284207:exon8:c.A722G:p.K241R;	0.996209878059658	0.926
18	21197697	T	G	18	23617733	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.A722C:p.K241T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.A722C:p.K241T;ENSG00000154065:ENST00000322980:exon8:c.A722C:p.K241T;ENSG00000154065:ENST00000284207:exon8:c.A722C:p.K241T;	0.990028589925762	0.9
18	21197698	T	A	18	23617734	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon8:c.A721T:p.K241X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon8:c.A721T:p.K241X;ENSG00000154065:ENST00000322980:exon8:c.A721T:p.K241X;ENSG00000154065:ENST00000284207:exon8:c.A721T:p.K241X;	0.911406293194799	0.612
18	21197698	T	C	18	23617734	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.A721G:p.K241E;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.A721G:p.K241E;ENSG00000154065:ENST00000322980:exon8:c.A721G:p.K241E;ENSG00000154065:ENST00000284207:exon8:c.A721G:p.K241E;	0.0195162282733568	0.256
18	21197698	T	G	18	23617734	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.A721C:p.K241Q;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.A721C:p.K241Q;ENSG00000154065:ENST00000322980:exon8:c.A721C:p.K241Q;ENSG00000154065:ENST00000284207:exon8:c.A721C:p.K241Q;	0.0586191287166035	0.258
18	21197790	T	A	18	23617826	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.A629T:p.D210V;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.A629T:p.D210V;ENSG00000154065:ENST00000322980:exon8:c.A629T:p.D210V;ENSG00000154065:ENST00000284207:exon8:c.A629T:p.D210V;	0.77781772012435	0.556
18	21197790	T	C	18	23617826	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.A629G:p.D210G;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.A629G:p.D210G;ENSG00000154065:ENST00000322980:exon8:c.A629G:p.D210G;ENSG00000154065:ENST00000284207:exon8:c.A629G:p.D210G;	0.840648955806206	0.444
18	21197790	T	G	18	23617826	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.A629C:p.D210A;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.A629C:p.D210A;ENSG00000154065:ENST00000322980:exon8:c.A629C:p.D210A;ENSG00000154065:ENST00000284207:exon8:c.A629C:p.D210A;	0.907493486549645	0.668
18	21197791	C	A	18	23617827	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.G628T:p.D210Y;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.G628T:p.D210Y;ENSG00000154065:ENST00000322980:exon8:c.G628T:p.D210Y;ENSG00000154065:ENST00000284207:exon8:c.G628T:p.D210Y;	0.999877999102216	0.984
18	21197791	C	G	18	23617827	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.G628C:p.D210H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.G628C:p.D210H;ENSG00000154065:ENST00000322980:exon8:c.G628C:p.D210H;ENSG00000154065:ENST00000284207:exon8:c.G628C:p.D210H;	0.999706483635178	0.97
18	21197791	C	T	18	23617827	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon8:c.G628A:p.D210N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon8:c.G628A:p.D210N;ENSG00000154065:ENST00000322980:exon8:c.G628A:p.D210N;ENSG00000154065:ENST00000284207:exon8:c.G628A:p.D210N;	0.999553507980779	0.902
18	21197792	C	A	18	23617828	y	y	splicing	ANKRD29(NM_173505:exon9:c.628-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.628-1G>T;ENST00000284207:exon9:c.628-1G>T;ENST00000322980:exon9:c.628-1G>T;ENST00000587763:exon4:c.168-1G>T)	.	.	0.99995545544995	0.93
18	21197792	C	G	18	23617828	y	y	splicing	ANKRD29(NM_173505:exon9:c.628-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.628-1G>C;ENST00000284207:exon9:c.628-1G>C;ENST00000322980:exon9:c.628-1G>C;ENST00000587763:exon4:c.168-1G>C)	.	.	0.99995545544995	0.93
18	21197792	C	T	18	23617828	y	y	splicing	ANKRD29(NM_173505:exon9:c.628-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.628-1G>A;ENST00000284207:exon9:c.628-1G>A;ENST00000322980:exon9:c.628-1G>A;ENST00000587763:exon4:c.168-1G>A)	.	.	0.99995545544995	0.924
18	21197793	T	A	18	23617829	y	y	splicing	ANKRD29(NM_173505:exon9:c.628-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.628-2A>T;ENST00000284207:exon9:c.628-2A>T;ENST00000322980:exon9:c.628-2A>T;ENST00000587763:exon4:c.168-2A>T)	.	.	0.999965414246739	0.944
18	21197793	T	C	18	23617829	y	y	splicing	ANKRD29(NM_173505:exon9:c.628-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.628-2A>G;ENST00000284207:exon9:c.628-2A>G;ENST00000322980:exon9:c.628-2A>G;ENST00000587763:exon4:c.168-2A>G)	.	.	0.999965414246739	0.94
18	21197793	T	G	18	23617829	y	y	splicing	ANKRD29(NM_173505:exon9:c.628-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon9:c.628-2A>C;ENST00000284207:exon9:c.628-2A>C;ENST00000322980:exon9:c.628-2A>C;ENST00000587763:exon4:c.168-2A>C)	.	.	0.999965414246739	0.94
18	21197794	T	A	18	23617830	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.17985445547079E-4	0.004
18	21197794	T	C	18	23617830	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.128917143080543	0.32
18	21197794	T	G	18	23617830	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00223686892406315	0.168
18	21197795	A	C	18	23617831	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.3121695325381E-4	0.036
18	21197795	A	G	18	23617831	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.89844863003474E-5	0.008
18	21197795	A	T	18	23617831	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.20013049570372E-5	0.002
18	21197796	A	C	18	23617832	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00360569702740008	0.244
18	21197796	A	G	18	23617832	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.70801498881001E-4	0.046
18	21197796	A	T	18	23617832	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.37137988320917E-4	0.188
18	21197797	C	A	18	23617833	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.66523754646648E-5	0.004
18	21197797	C	G	18	23617833	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.84961445592054E-5	0.01
18	21197797	C	T	18	23617833	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.31494699263599E-5	0.0
18	21197798	A	C	18	23617834	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00255049012697897	0.1
18	21197798	A	G	18	23617834	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00163318473837875	0.062
18	21197798	A	T	18	23617834	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999469938059261	0.978
18	21197799	G	A	18	23617835	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.86159348806449E-5	0.0
18	21197799	G	C	18	23617835	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.40508238302398E-4	0.032
18	21197799	G	T	18	23617835	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.74538777864306E-4	0.066
18	21197800	A	C	18	23617836	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00324964019287428	0.122
18	21197800	A	G	18	23617836	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.32512073546586E-4	0.012
18	21197800	A	T	18	23617836	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00534085618960535	0.176
18	21197801	A	C	18	23617837	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00104770584051541	0.07
18	21197801	A	G	18	23617837	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.17513696079022E-4	0.056
18	21197801	A	T	18	23617837	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.84009412063537E-4	0.106
18	21197802	A	C	18	23617838	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00197434005441334	0.154
18	21197802	A	G	18	23617838	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00315113710671613	0.11
18	21197802	A	T	18	23617838	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0045585038358075	0.34
18	21197803	G	A	18	23617839	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.02053837745196E-5	0.0
18	21197803	G	C	18	23617839	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.02347729387397E-5	0.038
18	21197803	G	T	18	23617839	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.14013222599496E-5	0.034
18	21199487	G	A	18	23619523	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.2621756945689E-5	0.0
18	21199487	G	C	18	23619523	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.80775072089912E-5	0.0
18	21199487	G	T	18	23619523	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.1341741004522E-5	0.0
18	21199488	C	A	18	23619524	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.63364481902775E-5	0.002
18	21199488	C	G	18	23619524	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.97400935499049E-4	0.014
18	21199488	C	T	18	23619524	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.69014701894366E-4	0.014
18	21199489	A	C	18	23619525	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.995947045987598	0.886
18	21199489	A	G	18	23619525	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.99437359908829	0.828
18	21199489	A	T	18	23619525	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.99632087193336	0.838
18	21199490	C	A	18	23619526	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999983008360131	0.972
18	21199490	C	G	18	23619526	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999675973958641	0.946
18	21199490	C	T	18	23619526	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999982018658089	0.998
18	21199491	T	A	18	23619527	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999725030235638	0.942
18	21199491	T	C	18	23619527	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998884750337731	0.952
18	21199491	T	G	18	23619527	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998899469969484	0.9
18	21199492	C	A	18	23619528	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.99860418449059	0.808
18	21199492	C	G	18	23619528	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.997654732861146	0.912
18	21199492	C	T	18	23619528	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.77018750896902E-4	0.078
18	21199493	A	C	18	23619529	y	y	splicing	ANKRD29(NM_173505:exon8:c.627+2T>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.627+2T>G;ENST00000284207:exon8:c.627+2T>G;ENST00000322980:exon8:c.627+2T>G;ENST00000587763:exon3:c.167+2T>G)	.	.	0.999989917668626	0.928
18	21199493	A	G	18	23619529	y	y	splicing	ANKRD29(NM_173505:exon8:c.627+2T>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.627+2T>C;ENST00000284207:exon8:c.627+2T>C;ENST00000322980:exon8:c.627+2T>C;ENST00000587763:exon3:c.167+2T>C)	.	.	0.999927254940125	0.862
18	21199493	A	T	18	23619529	y	y	splicing	ANKRD29(NM_173505:exon8:c.627+2T>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.627+2T>A;ENST00000284207:exon8:c.627+2T>A;ENST00000322980:exon8:c.627+2T>A;ENST00000587763:exon3:c.167+2T>A)	.	.	0.999989917668626	0.928
18	21199494	C	A	18	23619530	y	y	splicing	ANKRD29(NM_173505:exon8:c.627+1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.627+1G>T;ENST00000284207:exon8:c.627+1G>T;ENST00000322980:exon8:c.627+1G>T;ENST00000587763:exon3:c.167+1G>T)	.	.	0.999986675681007	0.94
18	21199494	C	G	18	23619530	y	y	splicing	ANKRD29(NM_173505:exon8:c.627+1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.627+1G>C;ENST00000284207:exon8:c.627+1G>C;ENST00000322980:exon8:c.627+1G>C;ENST00000587763:exon3:c.167+1G>C)	.	.	0.999986675681007	0.94
18	21199494	C	T	18	23619530	y	y	splicing	ANKRD29(NM_173505:exon8:c.627+1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.627+1G>A;ENST00000284207:exon8:c.627+1G>A;ENST00000322980:exon8:c.627+1G>A;ENST00000587763:exon3:c.167+1G>A)	.	.	0.999986675681007	0.94
18	21199495	G	A	18	23619531	y	y	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon7:c.C627T:p.N209N;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.C627T:p.N209N;ENSG00000154065:ENST00000322980:exon7:c.C627T:p.N209N;ENSG00000154065:ENST00000284207:exon7:c.C627T:p.N209N;	9.90168952262627E-4	0.14
18	21199495	G	C	18	23619531	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.C627G:p.N209K;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.C627G:p.N209K;ENSG00000154065:ENST00000322980:exon7:c.C627G:p.N209K;ENSG00000154065:ENST00000284207:exon7:c.C627G:p.N209K;	5.61333755879597E-6	0.294
18	21199495	G	T	18	23619531	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.C627A:p.N209K;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.C627A:p.N209K;ENSG00000154065:ENST00000322980:exon7:c.C627A:p.N209K;ENSG00000154065:ENST00000284207:exon7:c.C627A:p.N209K;	1.38653784781829E-5	0.006
18	21199496	T	A	18	23619532	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A626T:p.N209I;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A626T:p.N209I;ENSG00000154065:ENST00000322980:exon7:c.A626T:p.N209I;ENSG00000154065:ENST00000284207:exon7:c.A626T:p.N209I;	0.999401605288191	0.94
18	21199496	T	C	18	23619532	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A626G:p.N209S;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A626G:p.N209S;ENSG00000154065:ENST00000322980:exon7:c.A626G:p.N209S;ENSG00000154065:ENST00000284207:exon7:c.A626G:p.N209S;	0.999564667093642	0.974
18	21199496	T	G	18	23619532	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A626C:p.N209T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A626C:p.N209T;ENSG00000154065:ENST00000322980:exon7:c.A626C:p.N209T;ENSG00000154065:ENST00000284207:exon7:c.A626C:p.N209T;	0.998094742572078	0.916
18	21199497	T	A	18	23619533	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A625T:p.N209Y;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A625T:p.N209Y;ENSG00000154065:ENST00000322980:exon7:c.A625T:p.N209Y;ENSG00000154065:ENST00000284207:exon7:c.A625T:p.N209Y;	0.114879701235629	0.44
18	21199497	T	C	18	23619533	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A625G:p.N209D;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A625G:p.N209D;ENSG00000154065:ENST00000322980:exon7:c.A625G:p.N209D;ENSG00000154065:ENST00000284207:exon7:c.A625G:p.N209D;	3.18763423607899E-5	0.052
18	21199497	T	G	18	23619533	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A625C:p.N209H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A625C:p.N209H;ENSG00000154065:ENST00000322980:exon7:c.A625C:p.N209H;ENSG00000154065:ENST00000284207:exon7:c.A625C:p.N209H;	2.00713182010371E-4	0.126
18	21199592	T	A	18	23619628	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A530T:p.D177V;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A530T:p.D177V;ENSG00000154065:ENST00000322980:exon7:c.A530T:p.D177V;ENSG00000154065:ENST00000284207:exon7:c.A530T:p.D177V;	0.576265511763484	0.772
18	21199592	T	C	18	23619628	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A530G:p.D177G;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A530G:p.D177G;ENSG00000154065:ENST00000322980:exon7:c.A530G:p.D177G;ENSG00000154065:ENST00000284207:exon7:c.A530G:p.D177G;	0.484778581120264	0.596
18	21199592	T	G	18	23619628	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.A530C:p.D177A;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.A530C:p.D177A;ENSG00000154065:ENST00000322980:exon7:c.A530C:p.D177A;ENSG00000154065:ENST00000284207:exon7:c.A530C:p.D177A;	0.597479927893651	0.766
18	21199593	C	A	18	23619629	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.G529T:p.D177Y;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.G529T:p.D177Y;ENSG00000154065:ENST00000322980:exon7:c.G529T:p.D177Y;ENSG00000154065:ENST00000284207:exon7:c.G529T:p.D177Y;	0.999431124719977	0.94
18	21199593	C	G	18	23619629	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.G529C:p.D177H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.G529C:p.D177H;ENSG00000154065:ENST00000322980:exon7:c.G529C:p.D177H;ENSG00000154065:ENST00000284207:exon7:c.G529C:p.D177H;	0.999473946767862	0.916
18	21199593	C	T	18	23619629	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon7:c.G529A:p.D177N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon7:c.G529A:p.D177N;ENSG00000154065:ENST00000322980:exon7:c.G529A:p.D177N;ENSG00000154065:ENST00000284207:exon7:c.G529A:p.D177N;	0.996283463002004	0.772
18	21199594	C	A	18	23619630	y	y	splicing	ANKRD29(NM_173505:exon8:c.529-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.529-1G>T;ENST00000284207:exon8:c.529-1G>T;ENST00000322980:exon8:c.529-1G>T;ENST00000587763:exon3:c.69-1G>T)	.	.	0.999986675681007	0.94
18	21199594	C	G	18	23619630	y	y	splicing	ANKRD29(NM_173505:exon8:c.529-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.529-1G>C;ENST00000284207:exon8:c.529-1G>C;ENST00000322980:exon8:c.529-1G>C;ENST00000587763:exon3:c.69-1G>C)	.	.	0.999986675681007	0.94
18	21199594	C	T	18	23619630	y	y	splicing	ANKRD29(NM_173505:exon8:c.529-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.529-1G>A;ENST00000284207:exon8:c.529-1G>A;ENST00000322980:exon8:c.529-1G>A;ENST00000587763:exon3:c.69-1G>A)	.	.	0.999986675681007	0.94
18	21199595	T	A	18	23619631	y	y	splicing	ANKRD29(NM_173505:exon8:c.529-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.529-2A>T;ENST00000284207:exon8:c.529-2A>T;ENST00000322980:exon8:c.529-2A>T;ENST00000587763:exon3:c.69-2A>T)	.	.	0.999989917668626	0.928
18	21199595	T	C	18	23619631	y	y	splicing	ANKRD29(NM_173505:exon8:c.529-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.529-2A>G;ENST00000284207:exon8:c.529-2A>G;ENST00000322980:exon8:c.529-2A>G;ENST00000587763:exon3:c.69-2A>G)	.	.	0.999989917668626	0.928
18	21199595	T	G	18	23619631	y	y	splicing	ANKRD29(NM_173505:exon8:c.529-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon8:c.529-2A>C;ENST00000284207:exon8:c.529-2A>C;ENST00000322980:exon8:c.529-2A>C;ENST00000587763:exon3:c.69-2A>C)	.	.	0.999989917668626	0.928
18	21199596	G	A	18	23619632	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.206732855881102	0.1
18	21199596	G	C	18	23619632	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999953890927908	0.98
18	21199596	G	T	18	23619632	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.990154428440765	0.838
18	21199597	C	A	18	23619633	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.23827016100534E-5	0.024
18	21199597	C	G	18	23619633	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.4700224841819E-6	0.012
18	21199597	C	T	18	23619633	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.98630272416409E-5	0.014
18	21199598	G	A	18	23619634	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.96613456890247E-5	0.002
18	21199598	G	C	18	23619634	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00221537721047234	0.132
18	21199598	G	T	18	23619634	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.993219471802417	0.706
18	21199599	G	A	18	23619635	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.67908627933301E-5	0.036
18	21199599	G	C	18	23619635	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00231051865972854	0.198
18	21199599	G	T	18	23619635	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.58273590799411E-4	0.192
18	21199600	G	A	18	23619636	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.99497350693647E-5	0.064
18	21199600	G	C	18	23619636	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00319768504098691	0.196
18	21199600	G	T	18	23619636	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00332789260267084	0.23
18	21199601	A	C	18	23619637	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.82784011591429E-4	0.022
18	21199601	A	G	18	23619637	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.73185821224437E-5	0.026
18	21199601	A	T	18	23619637	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.33599408853344E-4	0.02
18	21199602	A	C	18	23619638	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.71037469979896E-5	0.124
18	21199602	A	G	18	23619638	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.81993377609168E-5	0.07
18	21199602	A	T	18	23619638	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.41312149727516E-5	0.116
18	21199603	G	A	18	23619639	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.25932480040094E-4	0.148
18	21199603	G	C	18	23619639	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.97192464575593E-5	0.082
18	21199603	G	T	18	23619639	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.00316442272581E-5	0.076
18	21199604	A	C	18	23619640	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.569091906939337	0.658
18	21199604	A	G	18	23619640	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.298388480114649	0.398
18	21199604	A	T	18	23619640	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.644025033162284	0.676
18	21199605	G	A	18	23619641	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.76003685771596E-4	0.146
18	21199605	G	C	18	23619641	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.39430967639692E-5	0.074
18	21199605	G	T	18	23619641	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.66450108298395E-5	0.08
18	21209809	G	A	18	23629845	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.90878461042616E-4	0.006
18	21209809	G	C	18	23629845	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.79096572406572E-4	0.006
18	21209809	G	T	18	23629845	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.79096572406572E-4	0.014
18	21209810	A	C	18	23629846	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.28451187264208E-4	0.006
18	21209810	A	G	18	23629846	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.34746550506667E-4	0.014
18	21209810	A	T	18	23629846	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.34746550506667E-4	0.008
18	21209811	C	A	18	23629847	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0043411944669232	0.054
18	21209811	C	G	18	23629847	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0968254470935301	0.288
18	21209811	C	T	18	23629847	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.038973599545693	0.168
18	21209812	A	C	18	23629848	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.46698274825971E-4	0.028
18	21209812	A	G	18	23629848	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00100541189041161	0.038
18	21209812	A	T	18	23629848	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.4934871697853E-4	0.006
18	21209813	T	A	18	23629849	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.986119718133554	0.734
18	21209813	T	C	18	23629849	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.994568023208924	0.84
18	21209813	T	G	18	23629849	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.798900148143231	0.586
18	21209814	T	A	18	23629850	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999768178787498	0.928
18	21209814	T	C	18	23629850	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.985143603536827	0.916
18	21209814	T	G	18	23629850	y	n	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999704806705299	0.974
18	21209815	A	C	18	23629851	y	n	splicing	ANKRD29(NM_173505:exon7:c.528+2T>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.528+2T>G;ENST00000284207:exon7:c.528+2T>G;ENST00000322980:exon7:c.528+2T>G;ENST00000587763:exon2:c.68+2T>G)	.	.	0.999989917668626	0.948
18	21209815	A	G	18	23629851	y	n	splicing	ANKRD29(NM_173505:exon7:c.528+2T>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.528+2T>C;ENST00000284207:exon7:c.528+2T>C;ENST00000322980:exon7:c.528+2T>C;ENST00000587763:exon2:c.68+2T>C)	.	.	0.993179459523591	0.656
18	21209815	A	T	18	23629851	y	n	splicing	ANKRD29(NM_173505:exon7:c.528+2T>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.528+2T>A;ENST00000284207:exon7:c.528+2T>A;ENST00000322980:exon7:c.528+2T>A;ENST00000587763:exon2:c.68+2T>A)	.	.	0.999989917668626	0.948
18	21209816	C	A	18	23629852	y	n	splicing	ANKRD29(NM_173505:exon7:c.528+1G>T)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon7:c.528+1G>T;ENST00000284207:exon7:c.528+1G>T;ENST00000322980:exon7:c.528+1G>T;ENST00000587763:exon2:c.68+1G>T)	unknown	UNKNOWN	0.999981760802075	0.954
18	21209816	C	G	18	23629852	y	n	splicing	ANKRD29(NM_173505:exon7:c.528+1G>C)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon7:c.528+1G>C;ENST00000284207:exon7:c.528+1G>C;ENST00000322980:exon7:c.528+1G>C;ENST00000587763:exon2:c.68+1G>C)	unknown	UNKNOWN	0.999981760802075	0.954
18	21209816	C	T	18	23629852	y	n	splicing	ANKRD29(NM_173505:exon7:c.528+1G>A)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon7:c.528+1G>A;ENST00000284207:exon7:c.528+1G>A;ENST00000322980:exon7:c.528+1G>A;ENST00000587763:exon2:c.68+1G>A)	unknown	UNKNOWN	0.999981760802075	0.954
18	21209817	C	A	18	23629853	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.G528T:p.Q176H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.G528T:p.Q176H;ENSG00000154065:ENST00000322980:exon6:c.G528T:p.Q176H;ENSG00000154065:ENST00000586087:exon5:c.G429T:p.Q143H;ENSG00000154065:ENST00000284207:exon6:c.G528T:p.Q176H;	0.999987469944553	1.0
18	21209817	C	G	18	23629853	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.G528C:p.Q176H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.G528C:p.Q176H;ENSG00000154065:ENST00000322980:exon6:c.G528C:p.Q176H;ENSG00000154065:ENST00000586087:exon5:c.G429C:p.Q143H;ENSG00000154065:ENST00000284207:exon6:c.G528C:p.Q176H;	0.999997551188445	1.0
18	21209817	C	T	18	23629853	y	n	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon6:c.G528A:p.Q176Q;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.G528A:p.Q176Q;ENSG00000154065:ENST00000322980:exon6:c.G528A:p.Q176Q;ENSG00000154065:ENST00000586087:exon5:c.G429A:p.Q143Q;ENSG00000154065:ENST00000284207:exon6:c.G528A:p.Q176Q;	0.999967761432169	1.0
18	21209818	T	A	18	23629854	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.A527T:p.Q176L;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.A527T:p.Q176L;ENSG00000154065:ENST00000322980:exon6:c.A527T:p.Q176L;ENSG00000154065:ENST00000586087:exon5:c.A428T:p.Q143L;ENSG00000154065:ENST00000284207:exon6:c.A527T:p.Q176L;	0.999868847984752	0.992
18	21209818	T	C	18	23629854	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.A527G:p.Q176R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.A527G:p.Q176R;ENSG00000154065:ENST00000322980:exon6:c.A527G:p.Q176R;ENSG00000154065:ENST00000586087:exon5:c.A428G:p.Q143R;ENSG00000154065:ENST00000284207:exon6:c.A527G:p.Q176R;	0.998829089741455	0.994
18	21209818	T	G	18	23629854	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.A527C:p.Q176P;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.A527C:p.Q176P;ENSG00000154065:ENST00000322980:exon6:c.A527C:p.Q176P;ENSG00000154065:ENST00000586087:exon5:c.A428C:p.Q143P;ENSG00000154065:ENST00000284207:exon6:c.A527C:p.Q176P;	0.999697479846539	0.974
18	21209819	G	A	18	23629855	y	n	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon6:c.C526T:p.Q176X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon6:c.C526T:p.Q176X;ENSG00000154065:ENST00000322980:exon6:c.C526T:p.Q176X;ENSG00000154065:ENST00000586087:exon5:c.C427T:p.Q143X;ENSG00000154065:ENST00000284207:exon6:c.C526T:p.Q176X;	0.999547273076028	0.958
18	21209819	G	C	18	23629855	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.C526G:p.Q176E;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.C526G:p.Q176E;ENSG00000154065:ENST00000322980:exon6:c.C526G:p.Q176E;ENSG00000154065:ENST00000586087:exon5:c.C427G:p.Q143E;ENSG00000154065:ENST00000284207:exon6:c.C526G:p.Q176E;	0.0246940351118053	0.228
18	21209819	G	T	18	23629855	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.C526A:p.Q176K;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.C526A:p.Q176K;ENSG00000154065:ENST00000322980:exon6:c.C526A:p.Q176K;ENSG00000154065:ENST00000586087:exon5:c.C427A:p.Q143K;ENSG00000154065:ENST00000284207:exon6:c.C526A:p.Q176K;	0.00476686829369769	0.178
18	21209914	T	A	18	23629950	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.A431T:p.D144V;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.A431T:p.D144V;ENSG00000154065:ENST00000322980:exon6:c.A431T:p.D144V;ENSG00000154065:ENST00000586087:exon5:c.A332T:p.D111V;ENSG00000154065:ENST00000284207:exon6:c.A431T:p.D144V;	0.473159845786727	0.684
18	21209914	T	C	18	23629950	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.A431G:p.D144G;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.A431G:p.D144G;ENSG00000154065:ENST00000322980:exon6:c.A431G:p.D144G;ENSG00000154065:ENST00000586087:exon5:c.A332G:p.D111G;ENSG00000154065:ENST00000284207:exon6:c.A431G:p.D144G;	0.727398429642444	0.686
18	21209914	T	G	18	23629950	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.A431C:p.D144A;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.A431C:p.D144A;ENSG00000154065:ENST00000322980:exon6:c.A431C:p.D144A;ENSG00000154065:ENST00000586087:exon5:c.A332C:p.D111A;ENSG00000154065:ENST00000284207:exon6:c.A431C:p.D144A;	0.8683955675988	0.768
18	21209915	C	A	18	23629951	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.G430T:p.D144Y;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.G430T:p.D144Y;ENSG00000154065:ENST00000322980:exon6:c.G430T:p.D144Y;ENSG00000154065:ENST00000586087:exon5:c.G331T:p.D111Y;ENSG00000154065:ENST00000284207:exon6:c.G430T:p.D144Y;	0.999763407745852	0.978
18	21209915	C	G	18	23629951	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.G430C:p.D144H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.G430C:p.D144H;ENSG00000154065:ENST00000322980:exon6:c.G430C:p.D144H;ENSG00000154065:ENST00000586087:exon5:c.G331C:p.D111H;ENSG00000154065:ENST00000284207:exon6:c.G430C:p.D144H;	0.99958011197043	0.938
18	21209915	C	T	18	23629951	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon6:c.G430A:p.D144N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon6:c.G430A:p.D144N;ENSG00000154065:ENST00000322980:exon6:c.G430A:p.D144N;ENSG00000154065:ENST00000586087:exon5:c.G331A:p.D111N;ENSG00000154065:ENST00000284207:exon6:c.G430A:p.D144N;	0.996793423930275	0.866
18	21209916	C	A	18	23629952	y	y	splicing	ANKRD29(NM_173505:exon7:c.430-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.430-1G>T;ENST00000284207:exon7:c.430-1G>T;ENST00000322980:exon7:c.430-1G>T;ENST00000586087:exon6:c.331-1G>T)	.	.	0.999981760802075	0.944
18	21209916	C	G	18	23629952	y	y	splicing	ANKRD29(NM_173505:exon7:c.430-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.430-1G>C;ENST00000284207:exon7:c.430-1G>C;ENST00000322980:exon7:c.430-1G>C;ENST00000586087:exon6:c.331-1G>C)	.	.	0.999981760802075	0.944
18	21209916	C	T	18	23629952	y	y	splicing	ANKRD29(NM_173505:exon7:c.430-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.430-1G>A;ENST00000284207:exon7:c.430-1G>A;ENST00000322980:exon7:c.430-1G>A;ENST00000586087:exon6:c.331-1G>A)	.	.	0.999981760802075	0.944
18	21209917	T	A	18	23629953	y	y	splicing	ANKRD29(NM_173505:exon7:c.430-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.430-2A>T;ENST00000284207:exon7:c.430-2A>T;ENST00000322980:exon7:c.430-2A>T;ENST00000586087:exon6:c.331-2A>T)	.	.	0.999989917668626	0.928
18	21209917	T	C	18	23629953	y	y	splicing	ANKRD29(NM_173505:exon7:c.430-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.430-2A>G;ENST00000284207:exon7:c.430-2A>G;ENST00000322980:exon7:c.430-2A>G;ENST00000586087:exon6:c.331-2A>G)	.	.	0.999989917668626	0.928
18	21209917	T	G	18	23629953	y	y	splicing	ANKRD29(NM_173505:exon7:c.430-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon7:c.430-2A>C;ENST00000284207:exon7:c.430-2A>C;ENST00000322980:exon7:c.430-2A>C;ENST00000586087:exon6:c.331-2A>C)	.	.	0.999989917668626	0.928
18	21209918	G	A	18	23629954	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0186658643928274	0.066
18	21209918	G	C	18	23629954	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998385135136243	0.918
18	21209918	G	T	18	23629954	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.649905879795558	0.524
18	21209919	A	C	18	23629955	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00250987978537101	0.04
18	21209919	A	G	18	23629955	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0018518261805719	0.032
18	21209919	A	T	18	23629955	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00250987978537101	0.04
18	21209920	G	A	18	23629956	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.5769764610876E-4	0.034
18	21209920	G	C	18	23629956	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0019399752715585	0.17
18	21209920	G	T	18	23629956	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.18464444922878E-4	0.064
18	21209921	A	C	18	23629957	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0207239850074608	0.132
18	21209921	A	G	18	23629957	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.26621356851682E-4	0.01
18	21209921	A	T	18	23629957	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0305241704576987	0.122
18	21209922	G	A	18	23629958	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.68737689614657E-4	0.064
18	21209922	G	C	18	23629958	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.13834806974794E-4	0.088
18	21209922	G	T	18	23629958	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00152059410572152	0.142
18	21209923	A	C	18	23629959	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.48205535952942E-4	0.042
18	21209923	A	G	18	23629959	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.79889388524459E-4	0.004
18	21209923	A	T	18	23629959	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00147904439507516	0.106
18	21209924	G	A	18	23629960	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.1669060300826E-5	0.046
18	21209924	G	C	18	23629960	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.95273481565798E-4	0.054
18	21209924	G	T	18	23629960	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.32720153561971E-4	0.058
18	21209925	A	C	18	23629961	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.91895409015565E-5	0.12
18	21209925	A	G	18	23629961	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.75783772005657E-5	0.076
18	21209925	A	T	18	23629961	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00127680008681593	0.238
18	21209926	A	C	18	23629962	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.24097731215267E-4	0.112
18	21209926	A	G	18	23629962	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.33322905153648E-4	0.036
18	21209926	A	T	18	23629962	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00101696806044274	0.142
18	21209927	C	A	18	23629963	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0127565897500367	0.272
18	21209927	C	G	18	23629963	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0467755298107147	0.226
18	21209927	C	T	18	23629963	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0501664868981692	0.164
18	21214007	G	A	18	23634043	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.54852398219204E-4	0.0
18	21214007	G	C	18	23634043	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.33083050299662E-4	0.0
18	21214007	G	T	18	23634043	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.33083050299662E-4	0.0
18	21214008	C	A	18	23634044	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.10201957927584E-4	0.0
18	21214008	C	G	18	23634044	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.73386572137077E-5	0.0
18	21214008	C	T	18	23634044	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.89210916601576E-5	0.0
18	21214009	A	C	18	23634045	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.988314130189023	0.848
18	21214009	A	G	18	23634045	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.990485303273714	0.872
18	21214009	A	T	18	23634045	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998804498042621	0.794
18	21214010	C	A	18	23634046	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999968543938335	0.986
18	21214010	C	G	18	23634046	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999964338533138	0.974
18	21214010	C	T	18	23634046	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999968543938335	1.0
18	21214011	T	A	18	23634047	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999716595110576	0.96
18	21214011	T	C	18	23634047	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999691208903326	0.986
18	21214011	T	G	18	23634047	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999606047950899	0.928
18	21214012	C	A	18	23634048	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.99985982258562	0.79
18	21214012	C	G	18	23634048	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999930016869668	0.842
18	21214012	C	T	18	23634048	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00390043837409979	0.054
18	21214013	A	C	18	23634049	y	y	splicing	ANKRD29(NM_173505:exon6:c.429+2T>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.429+2T>G;ENST00000284207:exon6:c.429+2T>G;ENST00000322980:exon6:c.429+2T>G;ENST00000586087:exon5:c.330+2T>G)	.	.	0.999988247793601	0.928
18	21214013	A	G	18	23634049	y	y	splicing	ANKRD29(NM_173505:exon6:c.429+2T>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.429+2T>C;ENST00000284207:exon6:c.429+2T>C;ENST00000322980:exon6:c.429+2T>C;ENST00000586087:exon5:c.330+2T>C)	.	.	0.99991520749976	0.868
18	21214013	A	T	18	23634049	y	y	splicing	ANKRD29(NM_173505:exon6:c.429+2T>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.429+2T>A;ENST00000284207:exon6:c.429+2T>A;ENST00000322980:exon6:c.429+2T>A;ENST00000586087:exon5:c.330+2T>A)	.	.	0.999988247793601	0.928
18	21214014	C	A	18	23634050	y	y	splicing	ANKRD29(NM_173505:exon6:c.429+1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.429+1G>T;ENST00000284207:exon6:c.429+1G>T;ENST00000322980:exon6:c.429+1G>T;ENST00000586087:exon5:c.330+1G>T)	.	.	0.999986675681007	0.932
18	21214014	C	G	18	23634050	y	y	splicing	ANKRD29(NM_173505:exon6:c.429+1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.429+1G>C;ENST00000284207:exon6:c.429+1G>C;ENST00000322980:exon6:c.429+1G>C;ENST00000586087:exon5:c.330+1G>C)	.	.	0.999986675681007	0.932
18	21214014	C	T	18	23634050	y	y	splicing	ANKRD29(NM_173505:exon6:c.429+1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.429+1G>A;ENST00000284207:exon6:c.429+1G>A;ENST00000322980:exon6:c.429+1G>A;ENST00000586087:exon5:c.330+1G>A)	.	.	0.999986675681007	0.932
18	21214015	A	C	18	23634051	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon5:c.T429G:p.Y143X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon5:c.T429G:p.Y143X;ENSG00000154065:ENST00000322980:exon5:c.T429G:p.Y143X;ENSG00000154065:ENST00000586087:exon4:c.T330G:p.Y110X;ENSG00000154065:ENST00000284207:exon5:c.T429G:p.Y143X;	3.86664057336064E-4	0.406
18	21214015	A	G	18	23634051	y	y	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon5:c.T429C:p.Y143Y;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.T429C:p.Y143Y;ENSG00000154065:ENST00000322980:exon5:c.T429C:p.Y143Y;ENSG00000154065:ENST00000586087:exon4:c.T330C:p.Y110Y;ENSG00000154065:ENST00000284207:exon5:c.T429C:p.Y143Y;	0.00158048645495374	0.354
18	21214015	A	T	18	23634051	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon5:c.T429A:p.Y143X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon5:c.T429A:p.Y143X;ENSG00000154065:ENST00000322980:exon5:c.T429A:p.Y143X;ENSG00000154065:ENST00000586087:exon4:c.T330A:p.Y110X;ENSG00000154065:ENST00000284207:exon5:c.T429A:p.Y143X;	2.19525238879806E-4	0.274
18	21214016	T	A	18	23634052	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.A428T:p.Y143F;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.A428T:p.Y143F;ENSG00000154065:ENST00000322980:exon5:c.A428T:p.Y143F;ENSG00000154065:ENST00000586087:exon4:c.A329T:p.Y110F;ENSG00000154065:ENST00000284207:exon5:c.A428T:p.Y143F;	0.999526176435063	0.916
18	21214016	T	C	18	23634052	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.A428G:p.Y143C;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.A428G:p.Y143C;ENSG00000154065:ENST00000322980:exon5:c.A428G:p.Y143C;ENSG00000154065:ENST00000586087:exon4:c.A329G:p.Y110C;ENSG00000154065:ENST00000284207:exon5:c.A428G:p.Y143C;	0.999705924904861	0.954
18	21214016	T	G	18	23634052	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.A428C:p.Y143S;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.A428C:p.Y143S;ENSG00000154065:ENST00000322980:exon5:c.A428C:p.Y143S;ENSG00000154065:ENST00000586087:exon4:c.A329C:p.Y110S;ENSG00000154065:ENST00000284207:exon5:c.A428C:p.Y143S;	0.99951796302489	0.934
18	21214017	A	C	18	23634053	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.T427G:p.Y143D;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.T427G:p.Y143D;ENSG00000154065:ENST00000322980:exon5:c.T427G:p.Y143D;ENSG00000154065:ENST00000586087:exon4:c.T328G:p.Y110D;ENSG00000154065:ENST00000284207:exon5:c.T427G:p.Y143D;	0.00174025000443637	0.066
18	21214017	A	G	18	23634053	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.T427C:p.Y143H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.T427C:p.Y143H;ENSG00000154065:ENST00000322980:exon5:c.T427C:p.Y143H;ENSG00000154065:ENST00000586087:exon4:c.T328C:p.Y110H;ENSG00000154065:ENST00000284207:exon5:c.T427C:p.Y143H;	0.00492848449164477	0.158
18	21214017	A	T	18	23634053	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.T427A:p.Y143N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.T427A:p.Y143N;ENSG00000154065:ENST00000322980:exon5:c.T427A:p.Y143N;ENSG00000154065:ENST00000586087:exon4:c.T328A:p.Y110N;ENSG00000154065:ENST00000284207:exon5:c.T427A:p.Y143N;	3.07772554696136E-4	0.04
18	21214112	T	A	18	23634148	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.A332T:p.D111V;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.A332T:p.D111V;ENSG00000154065:ENST00000322980:exon5:c.A332T:p.D111V;ENSG00000154065:ENST00000586087:exon4:c.A233T:p.D78V;ENSG00000154065:ENST00000284207:exon5:c.A332T:p.D111V;	0.903157016034719	0.75
18	21214112	T	C	18	23634148	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.A332G:p.D111G;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.A332G:p.D111G;ENSG00000154065:ENST00000322980:exon5:c.A332G:p.D111G;ENSG00000154065:ENST00000586087:exon4:c.A233G:p.D78G;ENSG00000154065:ENST00000284207:exon5:c.A332G:p.D111G;	0.911775483076412	0.702
18	21214112	T	G	18	23634148	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.A332C:p.D111A;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.A332C:p.D111A;ENSG00000154065:ENST00000322980:exon5:c.A332C:p.D111A;ENSG00000154065:ENST00000586087:exon4:c.A233C:p.D78A;ENSG00000154065:ENST00000284207:exon5:c.A332C:p.D111A;	0.937618379060607	0.82
18	21214113	C	A	18	23634149	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.G331T:p.D111Y;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.G331T:p.D111Y;ENSG00000154065:ENST00000322980:exon5:c.G331T:p.D111Y;ENSG00000154065:ENST00000586087:exon4:c.G232T:p.D78Y;ENSG00000154065:ENST00000284207:exon5:c.G331T:p.D111Y;	0.999962979111292	0.996
18	21214113	C	G	18	23634149	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.G331C:p.D111H;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.G331C:p.D111H;ENSG00000154065:ENST00000322980:exon5:c.G331C:p.D111H;ENSG00000154065:ENST00000586087:exon4:c.G232C:p.D78H;ENSG00000154065:ENST00000284207:exon5:c.G331C:p.D111H;	0.99991150359408	0.988
18	21214113	C	T	18	23634149	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon5:c.G331A:p.D111N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon5:c.G331A:p.D111N;ENSG00000154065:ENST00000322980:exon5:c.G331A:p.D111N;ENSG00000154065:ENST00000586087:exon4:c.G232A:p.D78N;ENSG00000154065:ENST00000284207:exon5:c.G331A:p.D111N;	0.99980778725876	0.976
18	21214114	C	A	18	23634150	y	y	splicing	ANKRD29(NM_173505:exon6:c.331-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.331-1G>T;ENST00000284207:exon6:c.331-1G>T;ENST00000322980:exon6:c.331-1G>T;ENST00000586087:exon5:c.232-1G>T)	.	.	0.99995586615188	0.946
18	21214114	C	G	18	23634150	y	y	splicing	ANKRD29(NM_173505:exon6:c.331-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.331-1G>C;ENST00000284207:exon6:c.331-1G>C;ENST00000322980:exon6:c.331-1G>C;ENST00000586087:exon5:c.232-1G>C)	.	.	0.99995586615188	0.94
18	21214114	C	T	18	23634150	y	y	splicing	ANKRD29(NM_173505:exon6:c.331-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.331-1G>A;ENST00000284207:exon6:c.331-1G>A;ENST00000322980:exon6:c.331-1G>A;ENST00000586087:exon5:c.232-1G>A)	.	.	0.99995586615188	0.948
18	21214115	T	A	18	23634151	y	y	splicing	ANKRD29(NM_173505:exon6:c.331-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.331-2A>T;ENST00000284207:exon6:c.331-2A>T;ENST00000322980:exon6:c.331-2A>T;ENST00000586087:exon5:c.232-2A>T)	.	.	0.999946188727699	0.938
18	21214115	T	C	18	23634151	y	y	splicing	ANKRD29(NM_173505:exon6:c.331-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.331-2A>G;ENST00000284207:exon6:c.331-2A>G;ENST00000322980:exon6:c.331-2A>G;ENST00000586087:exon5:c.232-2A>G)	.	.	0.999963671976247	0.934
18	21214115	T	G	18	23634151	y	y	splicing	ANKRD29(NM_173505:exon6:c.331-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon6:c.331-2A>C;ENST00000284207:exon6:c.331-2A>C;ENST00000322980:exon6:c.331-2A>C;ENST00000586087:exon5:c.232-2A>C)	.	.	0.999964896440643	0.936
18	21214116	A	C	18	23634152	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.735317107719814	0.696
18	21214116	A	G	18	23634152	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.50019942053976E-5	0.002
18	21214116	A	T	18	23634152	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00676448402414553	0.236
18	21214117	T	A	18	23634153	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.02492872044382E-5	0.0
18	21214117	T	C	18	23634153	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.24989420155619E-5	0.0
18	21214117	T	G	18	23634153	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.58369604639827E-5	0.002
18	21214118	G	A	18	23634154	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.16266638180933E-5	0.026
18	21214118	G	C	18	23634154	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.144092102280681	0.17
18	21214118	G	T	18	23634154	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0156432735846312	0.142
18	21214119	G	A	18	23634155	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.08845963539263E-4	0.054
18	21214119	G	C	18	23634155	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0215494747999993	0.324
18	21214119	G	T	18	23634155	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0199216213044297	0.318
18	21214120	A	C	18	23634156	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0269099389780069	0.31
18	21214120	A	G	18	23634156	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.2716035096603E-4	0.0
18	21214120	A	T	18	23634156	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0812464617242001	0.3
18	21214121	C	A	18	23634157	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.91683211707006E-5	0.004
18	21214121	C	G	18	23634157	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.91683211707006E-5	0.002
18	21214121	C	T	18	23634157	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.69650216274813E-4	0.0
18	21214122	A	C	18	23634158	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999540965119574	0.954
18	21214122	A	G	18	23634158	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.40889971718451E-4	0.004
18	21214122	A	T	18	23634158	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999540965119574	0.954
18	21214123	T	A	18	23634159	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.61524121989322E-5	0.0
18	21214123	T	C	18	23634159	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.80610616859175E-5	0.0
18	21214123	T	G	18	23634159	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.98933226725435E-5	0.0
18	21214124	G	A	18	23634160	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.76226690989838E-5	0.002
18	21214124	G	C	18	23634160	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.74845922878385E-4	0.038
18	21214124	G	T	18	23634160	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00238718280714871	0.076
18	21214125	C	A	18	23634161	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.03169683757085E-4	0.014
18	21214125	C	G	18	23634161	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.03169683757085E-4	0.002
18	21214125	C	T	18	23634161	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.47387627676984E-5	0.006
18	21218805	T	A	18	23638841	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.68175398542556E-4	0.01
18	21218805	T	C	18	23638841	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.66640822736738E-5	0.0
18	21218805	T	G	18	23638841	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.63765695124567E-5	0.002
18	21218806	A	C	18	23638842	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.99769738680469E-5	0.0
18	21218806	A	G	18	23638842	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.99769738680469E-5	0.0
18	21218806	A	T	18	23638842	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.99769738680469E-5	0.0
18	21218807	T	A	18	23638843	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.3242228570282E-5	0.004
18	21218807	T	C	18	23638843	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.72792828533637E-5	0.0
18	21218807	T	G	18	23638843	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.16146611615196E-4	0.018
18	21218808	C	A	18	23638844	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999972441752001	0.936
18	21218808	C	G	18	23638844	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999971593158075	0.892
18	21218808	C	T	18	23638844	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999966615902494	0.964
18	21218809	T	A	18	23638845	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998452542827774	0.796
18	21218809	T	C	18	23638845	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998129837158756	0.828
18	21218809	T	G	18	23638845	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.987746026493622	0.8
18	21218810	C	A	18	23638846	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.933860433517005	0.472
18	21218810	C	G	18	23638846	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.935240691068529	0.518
18	21218810	C	T	18	23638846	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.58124595617522E-6	0.002
18	21218811	A	C	18	23638847	y	y	splicing	ANKRD29(NM_173505:exon5:c.330+2T>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.330+2T>G;ENST00000284207:exon5:c.330+2T>G;ENST00000322980:exon5:c.330+2T>G)	.	.	0.99966210412995	0.82
18	21218811	A	G	18	23638847	y	y	splicing	ANKRD29(NM_173505:exon5:c.330+2T>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.330+2T>C;ENST00000284207:exon5:c.330+2T>C;ENST00000322980:exon5:c.330+2T>C)	.	.	0.9993265752245	0.814
18	21218811	A	T	18	23638847	y	y	splicing	ANKRD29(NM_173505:exon5:c.330+2T>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.330+2T>A;ENST00000284207:exon5:c.330+2T>A;ENST00000322980:exon5:c.330+2T>A)	.	.	0.999749636720875	0.836
18	21218812	C	A	18	23638848	y	y	splicing	ANKRD29(NM_173505:exon5:c.330+1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.330+1G>T;ENST00000284207:exon5:c.330+1G>T;ENST00000322980:exon5:c.330+1G>T)	.	.	0.999989125585301	0.942
18	21218812	C	G	18	23638848	y	y	splicing	ANKRD29(NM_173505:exon5:c.330+1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.330+1G>C;ENST00000284207:exon5:c.330+1G>C;ENST00000322980:exon5:c.330+1G>C)	.	.	0.999989125585301	0.942
18	21218812	C	T	18	23638848	y	y	splicing	ANKRD29(NM_173505:exon5:c.330+1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.330+1G>A;ENST00000284207:exon5:c.330+1G>A;ENST00000322980:exon5:c.330+1G>A)	.	.	0.999989125585301	0.942
18	21218813	T	A	18	23638849	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.A330T:p.K110N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.A330T:p.K110N;ENSG00000154065:ENST00000322980:exon4:c.A330T:p.K110N;ENSG00000154065:ENST00000284207:exon4:c.A330T:p.K110N;	0.00964762634661432	0.136
18	21218813	T	C	18	23638849	y	y	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon4:c.A330G:p.K110K;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.A330G:p.K110K;ENSG00000154065:ENST00000322980:exon4:c.A330G:p.K110K;ENSG00000154065:ENST00000284207:exon4:c.A330G:p.K110K;	5.55043593960799E-4	0.058
18	21218813	T	G	18	23638849	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.A330C:p.K110N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.A330C:p.K110N;ENSG00000154065:ENST00000322980:exon4:c.A330C:p.K110N;ENSG00000154065:ENST00000284207:exon4:c.A330C:p.K110N;	8.68674523583435E-4	0.308
18	21218814	T	A	18	23638850	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.A329T:p.K110I;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.A329T:p.K110I;ENSG00000154065:ENST00000322980:exon4:c.A329T:p.K110I;ENSG00000154065:ENST00000284207:exon4:c.A329T:p.K110I;	0.999897641890201	0.996
18	21218814	T	C	18	23638850	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.A329G:p.K110R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.A329G:p.K110R;ENSG00000154065:ENST00000322980:exon4:c.A329G:p.K110R;ENSG00000154065:ENST00000284207:exon4:c.A329G:p.K110R;	0.999911283597262	0.996
18	21218814	T	G	18	23638850	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.A329C:p.K110T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.A329C:p.K110T;ENSG00000154065:ENST00000322980:exon4:c.A329C:p.K110T;ENSG00000154065:ENST00000284207:exon4:c.A329C:p.K110T;	0.999771362072181	0.974
18	21218815	T	A	18	23638851	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon4:c.A328T:p.K110X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon4:c.A328T:p.K110X;ENSG00000154065:ENST00000322980:exon4:c.A328T:p.K110X;ENSG00000154065:ENST00000284207:exon4:c.A328T:p.K110X;	0.999257169348124	0.896
18	21218815	T	C	18	23638851	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.A328G:p.K110E;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.A328G:p.K110E;ENSG00000154065:ENST00000322980:exon4:c.A328G:p.K110E;ENSG00000154065:ENST00000284207:exon4:c.A328G:p.K110E;	0.95292082283164	0.572
18	21218815	T	G	18	23638851	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.A328C:p.K110Q;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.A328C:p.K110Q;ENSG00000154065:ENST00000322980:exon4:c.A328C:p.K110Q;ENSG00000154065:ENST00000284207:exon4:c.A328C:p.K110Q;	0.917318806733404	0.724
18	21218910	G	A	18	23638946	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.C233T:p.S78L;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.C233T:p.S78L;ENSG00000154065:ENST00000322980:exon4:c.C233T:p.S78L;ENSG00000154065:ENST00000284207:exon4:c.C233T:p.S78L;	0.980738302444458	0.816
18	21218910	G	C	18	23638946	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon4:c.C233G:p.S78X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon4:c.C233G:p.S78X;ENSG00000154065:ENST00000322980:exon4:c.C233G:p.S78X;ENSG00000154065:ENST00000284207:exon4:c.C233G:p.S78X;	0.986475172586073	0.924
18	21218910	G	T	18	23638946	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon4:c.C233A:p.S78X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon4:c.C233A:p.S78X;ENSG00000154065:ENST00000322980:exon4:c.C233A:p.S78X;ENSG00000154065:ENST00000284207:exon4:c.C233A:p.S78X;	0.997297731543283	0.9
18	21218911	A	C	18	23638947	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.T232G:p.S78A;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.T232G:p.S78A;ENSG00000154065:ENST00000322980:exon4:c.T232G:p.S78A;ENSG00000154065:ENST00000284207:exon4:c.T232G:p.S78A;	3.06102630316945E-5	0.038
18	21218911	A	G	18	23638947	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.T232C:p.S78P;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.T232C:p.S78P;ENSG00000154065:ENST00000322980:exon4:c.T232C:p.S78P;ENSG00000154065:ENST00000284207:exon4:c.T232C:p.S78P;	0.0167786830752817	0.102
18	21218911	A	T	18	23638947	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon4:c.T232A:p.S78T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon4:c.T232A:p.S78T;ENSG00000154065:ENST00000322980:exon4:c.T232A:p.S78T;ENSG00000154065:ENST00000284207:exon4:c.T232A:p.S78T;	3.51284181761028E-5	0.004
18	21218912	C	A	18	23638948	y	y	splicing	ANKRD29(NM_173505:exon5:c.232-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.232-1G>T;ENST00000284207:exon5:c.232-1G>T;ENST00000322980:exon5:c.232-1G>T)	.	.	0.999990361384395	0.948
18	21218912	C	G	18	23638948	y	y	splicing	ANKRD29(NM_173505:exon5:c.232-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.232-1G>C;ENST00000284207:exon5:c.232-1G>C;ENST00000322980:exon5:c.232-1G>C)	.	.	0.999990361384395	0.948
18	21218912	C	T	18	23638948	y	y	splicing	ANKRD29(NM_173505:exon5:c.232-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.232-1G>A;ENST00000284207:exon5:c.232-1G>A;ENST00000322980:exon5:c.232-1G>A)	.	.	0.999990361384395	0.948
18	21218913	T	A	18	23638949	y	y	splicing	ANKRD29(NM_173505:exon5:c.232-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.232-2A>T;ENST00000284207:exon5:c.232-2A>T;ENST00000322980:exon5:c.232-2A>T)	.	.	0.999988247793601	0.95
18	21218913	T	C	18	23638949	y	y	splicing	ANKRD29(NM_173505:exon5:c.232-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.232-2A>G;ENST00000284207:exon5:c.232-2A>G;ENST00000322980:exon5:c.232-2A>G)	.	.	0.999988247793601	0.95
18	21218913	T	G	18	23638949	y	y	splicing	ANKRD29(NM_173505:exon5:c.232-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon5:c.232-2A>C;ENST00000284207:exon5:c.232-2A>C;ENST00000322980:exon5:c.232-2A>C)	.	.	0.999988247793601	0.95
18	21218914	G	A	18	23638950	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0117385954509318	0.164
18	21218914	G	C	18	23638950	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999824682608674	0.982
18	21218914	G	T	18	23638950	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.989127320868302	0.85
18	21218915	G	A	18	23638951	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.39279080785636E-4	0.016
18	21218915	G	C	18	23638951	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.32708158391877E-5	0.008
18	21218915	G	T	18	23638951	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.33351568371179E-5	0.018
18	21218916	G	A	18	23638952	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.45128570351819E-5	0.0
18	21218916	G	C	18	23638952	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.06061654764175E-4	0.092
18	21218916	G	T	18	23638952	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.80890593555158E-4	0.094
18	21218917	A	C	18	23638953	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00977565204022829	0.21
18	21218917	A	G	18	23638953	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.82431373690928E-4	0.0
18	21218917	A	T	18	23638953	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0071194188419948	0.178
18	21218918	G	A	18	23638954	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00198491803902545	0.078
18	21218918	G	C	18	23638954	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.161627337212902	0.308
18	21218918	G	T	18	23638954	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.322123653915977	0.35
18	21218919	A	C	18	23638955	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00171188317164554	0.136
18	21218919	A	G	18	23638955	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.93016725548087E-4	0.056
18	21218919	A	T	18	23638955	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00124502939062296	0.196
18	21218920	G	A	18	23638956	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0011854688267481	0.074
18	21218920	G	C	18	23638956	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00602449800210857	0.122
18	21218920	G	T	18	23638956	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0269984872706046	0.082
18	21218921	A	C	18	23638957	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0113048942323563	0.142
18	21218921	A	G	18	23638957	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.62011550455498E-4	0.044
18	21218921	A	T	18	23638957	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0564604322342139	0.302
18	21218922	G	A	18	23638958	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.48486561288596E-5	0.004
18	21218922	G	C	18	23638958	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00316998952990255	0.292
18	21218922	G	T	18	23638958	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00332507250109037	0.154
18	21218923	G	A	18	23638959	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.56988638854755E-5	0.016
18	21218923	G	C	18	23638959	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.04442458517927E-4	0.126
18	21218923	G	T	18	23638959	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.48200201733068E-4	0.132
18	21226145	T	A	18	23646181	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.91128000557984E-4	0.002
18	21226145	T	C	18	23646181	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.20898346137904E-4	0.008
18	21226145	T	G	18	23646181	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00136247771902499	0.004
18	21226146	G	A	18	23646182	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.65305303543323E-4	0.02
18	21226146	G	C	18	23646182	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.65305303543323E-4	0.05
18	21226146	G	T	18	23646182	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.55232293977891E-4	0.008
18	21226147	A	C	18	23646183	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0717690423855401	0.226
18	21226147	A	G	18	23646183	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.108517630131259	0.362
18	21226147	A	T	18	23646183	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.145282440895948	0.3
18	21226148	C	A	18	23646184	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999525312637841	0.808
18	21226148	C	G	18	23646184	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999830611321143	0.932
18	21226148	C	T	18	23646184	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.998705370805678	0.752
18	21226149	C	A	18	23646185	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.23917982200635E-4	0.026
18	21226149	C	G	18	23646185	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.70533726001004E-4	0.104
18	21226149	C	T	18	23646185	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.59204580942041E-4	0.044
18	21226150	T	A	18	23646186	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.992320207281874	0.828
18	21226150	T	C	18	23646186	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.75992371657838	0.696
18	21226150	T	G	18	23646186	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.989970339031468	0.842
18	21226151	A	C	18	23646187	y	y	splicing	ANKRD29(NM_173505:exon4:c.231+2T>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.231+2T>G;ENST00000284207:exon4:c.231+2T>G;ENST00000322980:exon4:c.231+2T>G;ENST00000586087:exon4:c.231+2T>G)	.	.	0.999988247793601	0.93
18	21226151	A	G	18	23646187	y	y	splicing	ANKRD29(NM_173505:exon4:c.231+2T>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.231+2T>C;ENST00000284207:exon4:c.231+2T>C;ENST00000322980:exon4:c.231+2T>C;ENST00000586087:exon4:c.231+2T>C)	.	.	0.991305317320824	0.68
18	21226151	A	T	18	23646187	y	y	splicing	ANKRD29(NM_173505:exon4:c.231+2T>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.231+2T>A;ENST00000284207:exon4:c.231+2T>A;ENST00000322980:exon4:c.231+2T>A;ENST00000586087:exon4:c.231+2T>A)	.	.	0.999988247793601	0.93
18	21226152	C	A	18	23646188	y	y	splicing	ANKRD29(NM_173505:exon4:c.231+1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.231+1G>T;ENST00000284207:exon4:c.231+1G>T;ENST00000322980:exon4:c.231+1G>T;ENST00000586087:exon4:c.231+1G>T)	.	.	0.999989072007339	0.934
18	21226152	C	G	18	23646188	y	y	splicing	ANKRD29(NM_173505:exon4:c.231+1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.231+1G>C;ENST00000284207:exon4:c.231+1G>C;ENST00000322980:exon4:c.231+1G>C;ENST00000586087:exon4:c.231+1G>C)	.	.	0.999989072007339	0.934
18	21226152	C	T	18	23646188	y	y	splicing	ANKRD29(NM_173505:exon4:c.231+1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.231+1G>A;ENST00000284207:exon4:c.231+1G>A;ENST00000322980:exon4:c.231+1G>A;ENST00000586087:exon4:c.231+1G>A)	.	.	0.999989072007339	0.934
18	21226153	C	A	18	23646189	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.G231T:p.E77D;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.G231T:p.E77D;ENSG00000154065:ENST00000322980:exon3:c.G231T:p.E77D;ENSG00000154065:ENST00000586087:exon3:c.G231T:p.E77D;ENSG00000154065:ENST00000284207:exon3:c.G231T:p.E77D;	0.999938198216645	0.99
18	21226153	C	G	18	23646189	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.G231C:p.E77D;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.G231C:p.E77D;ENSG00000154065:ENST00000322980:exon3:c.G231C:p.E77D;ENSG00000154065:ENST00000586087:exon3:c.G231C:p.E77D;ENSG00000154065:ENST00000284207:exon3:c.G231C:p.E77D;	0.999992037848982	0.986
18	21226153	C	T	18	23646189	y	y	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon3:c.G231A:p.E77E;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.G231A:p.E77E;ENSG00000154065:ENST00000322980:exon3:c.G231A:p.E77E;ENSG00000154065:ENST00000586087:exon3:c.G231A:p.E77E;ENSG00000154065:ENST00000284207:exon3:c.G231A:p.E77E;	0.99997005464435	0.992
18	21226154	T	A	18	23646190	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.A230T:p.E77V;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.A230T:p.E77V;ENSG00000154065:ENST00000322980:exon3:c.A230T:p.E77V;ENSG00000154065:ENST00000586087:exon3:c.A230T:p.E77V;ENSG00000154065:ENST00000284207:exon3:c.A230T:p.E77V;	0.999498445410695	0.966
18	21226154	T	C	18	23646190	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.A230G:p.E77G;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.A230G:p.E77G;ENSG00000154065:ENST00000322980:exon3:c.A230G:p.E77G;ENSG00000154065:ENST00000586087:exon3:c.A230G:p.E77G;ENSG00000154065:ENST00000284207:exon3:c.A230G:p.E77G;	0.999775133797421	0.988
18	21226154	T	G	18	23646190	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.A230C:p.E77A;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.A230C:p.E77A;ENSG00000154065:ENST00000322980:exon3:c.A230C:p.E77A;ENSG00000154065:ENST00000586087:exon3:c.A230C:p.E77A;ENSG00000154065:ENST00000284207:exon3:c.A230C:p.E77A;	0.997586221631854	0.936
18	21226155	C	A	18	23646191	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon3:c.G229T:p.E77X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon3:c.G229T:p.E77X;ENSG00000154065:ENST00000322980:exon3:c.G229T:p.E77X;ENSG00000154065:ENST00000586087:exon3:c.G229T:p.E77X;ENSG00000154065:ENST00000284207:exon3:c.G229T:p.E77X;	0.979695242506191	0.882
18	21226155	C	G	18	23646191	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.G229C:p.E77Q;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.G229C:p.E77Q;ENSG00000154065:ENST00000322980:exon3:c.G229C:p.E77Q;ENSG00000154065:ENST00000586087:exon3:c.G229C:p.E77Q;ENSG00000154065:ENST00000284207:exon3:c.G229C:p.E77Q;	0.961445849758726	0.682
18	21226155	C	T	18	23646191	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.G229A:p.E77K;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.G229A:p.E77K;ENSG00000154065:ENST00000322980:exon3:c.G229A:p.E77K;ENSG00000154065:ENST00000586087:exon3:c.G229A:p.E77K;ENSG00000154065:ENST00000284207:exon3:c.G229A:p.E77K;	0.0590430282449522	0.156
18	21226250	T	A	18	23646286	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.A134T:p.H45L;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.A134T:p.H45L;ENSG00000154065:ENST00000322980:exon3:c.A134T:p.H45L;ENSG00000154065:ENST00000586087:exon3:c.A134T:p.H45L;ENSG00000154065:ENST00000284207:exon3:c.A134T:p.H45L;	6.3159997343276E-4	0.002
18	21226250	T	C	18	23646286	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.A134G:p.H45R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.A134G:p.H45R;ENSG00000154065:ENST00000322980:exon3:c.A134G:p.H45R;ENSG00000154065:ENST00000586087:exon3:c.A134G:p.H45R;ENSG00000154065:ENST00000284207:exon3:c.A134G:p.H45R;	6.30321712385885E-4	0.01
18	21226250	T	G	18	23646286	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.A134C:p.H45P;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.A134C:p.H45P;ENSG00000154065:ENST00000322980:exon3:c.A134C:p.H45P;ENSG00000154065:ENST00000586087:exon3:c.A134C:p.H45P;ENSG00000154065:ENST00000284207:exon3:c.A134C:p.H45P;	0.00377457998626799	0.038
18	21226251	G	A	18	23646287	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.C133T:p.H45Y;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.C133T:p.H45Y;ENSG00000154065:ENST00000322980:exon3:c.C133T:p.H45Y;ENSG00000154065:ENST00000586087:exon3:c.C133T:p.H45Y;ENSG00000154065:ENST00000284207:exon3:c.C133T:p.H45Y;	8.71058215408052E-5	0.15
18	21226251	G	C	18	23646287	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.C133G:p.H45D;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.C133G:p.H45D;ENSG00000154065:ENST00000322980:exon3:c.C133G:p.H45D;ENSG00000154065:ENST00000586087:exon3:c.C133G:p.H45D;ENSG00000154065:ENST00000284207:exon3:c.C133G:p.H45D;	1.0836286143668E-4	0.052
18	21226251	G	T	18	23646287	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon3:c.C133A:p.H45N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon3:c.C133A:p.H45N;ENSG00000154065:ENST00000322980:exon3:c.C133A:p.H45N;ENSG00000154065:ENST00000586087:exon3:c.C133A:p.H45N;ENSG00000154065:ENST00000284207:exon3:c.C133A:p.H45N;	4.14487739740528E-5	0.024
18	21226252	C	A	18	23646288	y	y	splicing	ANKRD29(NM_173505:exon4:c.133-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.133-1G>T;ENST00000284207:exon4:c.133-1G>T;ENST00000322980:exon4:c.133-1G>T;ENST00000586087:exon4:c.133-1G>T)	.	.	0.999989072007339	0.95
18	21226252	C	G	18	23646288	y	y	splicing	ANKRD29(NM_173505:exon4:c.133-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.133-1G>C;ENST00000284207:exon4:c.133-1G>C;ENST00000322980:exon4:c.133-1G>C;ENST00000586087:exon4:c.133-1G>C)	.	.	0.999989072007339	0.95
18	21226252	C	T	18	23646288	y	y	splicing	ANKRD29(NM_173505:exon4:c.133-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.133-1G>A;ENST00000284207:exon4:c.133-1G>A;ENST00000322980:exon4:c.133-1G>A;ENST00000586087:exon4:c.133-1G>A)	.	.	0.999989072007339	0.95
18	21226253	T	A	18	23646289	y	y	splicing	ANKRD29(NM_173505:exon4:c.133-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.133-2A>T;ENST00000284207:exon4:c.133-2A>T;ENST00000322980:exon4:c.133-2A>T;ENST00000586087:exon4:c.133-2A>T)	.	.	0.999988247793601	0.946
18	21226253	T	C	18	23646289	y	y	splicing	ANKRD29(NM_173505:exon4:c.133-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.133-2A>G;ENST00000284207:exon4:c.133-2A>G;ENST00000322980:exon4:c.133-2A>G;ENST00000586087:exon4:c.133-2A>G)	.	.	0.999988247793601	0.946
18	21226253	T	G	18	23646289	y	y	splicing	ANKRD29(NM_173505:exon4:c.133-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon4:c.133-2A>C;ENST00000284207:exon4:c.133-2A>C;ENST00000322980:exon4:c.133-2A>C;ENST00000586087:exon4:c.133-2A>C)	.	.	0.999988247793601	0.946
18	21226254	G	A	18	23646290	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00252361859082272	0.052
18	21226254	G	C	18	23646290	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.99981527309374	0.906
18	21226254	G	T	18	23646290	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.907614868710306	0.704
18	21226255	G	A	18	23646291	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.28872251450438E-5	0.0
18	21226255	G	C	18	23646291	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.90162053227767E-4	0.134
18	21226255	G	T	18	23646291	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.28872251450438E-5	0.0
18	21226256	A	C	18	23646292	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999964619811178	0.936
18	21226256	A	G	18	23646292	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00185593619676173	0.198
18	21226256	A	T	18	23646292	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0290343271140291	0.366
18	21226257	T	A	18	23646293	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.11165466051551E-5	0.002
18	21226257	T	C	18	23646293	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.21225896195849E-5	0.012
18	21226257	T	G	18	23646293	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.09317532209993E-5	0.008
18	21226258	G	A	18	23646294	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.09746657349819E-4	0.028
18	21226258	G	C	18	23646294	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00124780052799857	0.068
18	21226258	G	T	18	23646294	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00158001277295811	0.068
18	21226259	G	A	18	23646295	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00261906218350126	0.062
18	21226259	G	C	18	23646295	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.449788837862499	0.398
18	21226259	G	T	18	23646295	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.453075742940418	0.434
18	21226260	A	C	18	23646296	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00242921052913453	0.286
18	21226260	A	G	18	23646296	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.68695356541971E-5	0.104
18	21226260	A	T	18	23646296	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00523997352608484	0.296
18	21226261	G	A	18	23646297	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.76555714707004E-4	0.162
18	21226261	G	C	18	23646297	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00179832992017204	0.14
18	21226261	G	T	18	23646297	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00185278748060665	0.15
18	21226262	G	A	18	23646298	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.430827174159932	0.48
18	21226262	G	C	18	23646298	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.511005445993485	0.436
18	21226262	G	T	18	23646298	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.705543921361779	0.418
18	21226263	A	C	18	23646299	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.841302730353716	0.636
18	21226263	A	G	18	23646299	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0414386729627717	0.282
18	21226263	A	T	18	23646299	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.829020764410997	0.65
18	21229039	C	A	18	23649075	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G140T:p.W47L;	7.67093920441123E-5	0.018
18	21229039	C	G	18	23649075	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G140C:p.W47S;	1.01336627638382E-4	0.042
18	21229039	C	T	18	23649075	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000585908:exon2:c.G140A:p.W47X;	1.6824461808339E-4	0.04
18	21229040	A	C	18	23649076	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.T139G:p.W47G;	2.22052569811162E-5	0.0
18	21229040	A	G	18	23649076	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.T139C:p.W47R;	2.72921863071145E-5	0.0
18	21229040	A	T	18	23649076	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.T139A:p.W47R;	2.72921863071145E-5	0.0
18	21229041	C	A	18	23649077	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G138T:p.R46R;	3.80035129041672E-5	0.04
18	21229041	C	G	18	23649077	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G138C:p.R46R;	2.99472132773883E-5	0.084
18	21229041	C	T	18	23649077	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G138A:p.R46R;	7.36105417942676E-5	0.048
18	21229042	C	A	18	23649078	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G137T:p.R46L;	0.999960379767615	0.888
18	21229042	C	G	18	23649078	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G137C:p.R46P;	0.999975587335077	0.94
18	21229042	C	T	18	23649078	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G137A:p.R46Q;	0.999979905187241	0.934
18	21229043	G	A	18	23649079	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.C136T:p.R46W;	0.00347143045301938	0.178
18	21229043	G	C	18	23649079	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.C136G:p.R46G;	0.00641304167876386	0.18
18	21229043	G	T	18	23649079	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.C136A:p.R46R;	2.25921748017045E-4	0.074
18	21229044	T	A	18	23649080	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.A135T:p.V45V;	0.999984835563757	0.97
18	21229044	T	C	18	23649080	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.A135G:p.V45V;	0.998686399201724	0.826
18	21229044	T	G	18	23649080	y	n	intronic	ANKRD29	.	.	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.A135C:p.V45V;	0.999979723644778	0.974
18	21229045	A	C	18	23649081	y	n	splicing	ANKRD29(NM_173505:exon3:c.132+2T>G)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon3:c.132+2T>G;ENST00000284207:exon3:c.132+2T>G;ENST00000322980:exon3:c.132+2T>G;ENST00000586087:exon3:c.132+2T>G)	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.T134G:p.V45G;	0.999979394981131	0.912
18	21229045	A	G	18	23649081	y	n	splicing	ANKRD29(NM_173505:exon3:c.132+2T>C)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon3:c.132+2T>C;ENST00000284207:exon3:c.132+2T>C;ENST00000322980:exon3:c.132+2T>C;ENST00000586087:exon3:c.132+2T>C)	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.T134C:p.V45A;	0.999756486172881	0.86
18	21229045	A	T	18	23649081	y	n	splicing	ANKRD29(NM_173505:exon3:c.132+2T>A)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon3:c.132+2T>A;ENST00000284207:exon3:c.132+2T>A;ENST00000322980:exon3:c.132+2T>A;ENST00000586087:exon3:c.132+2T>A)	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.T134A:p.V45E;	0.999979394981131	0.912
18	21229046	C	A	18	23649082	y	n	splicing	ANKRD29(NM_173505:exon3:c.132+1G>T)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon3:c.132+1G>T;ENST00000284207:exon3:c.132+1G>T;ENST00000322980:exon3:c.132+1G>T;ENST00000586087:exon3:c.132+1G>T)	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G133T:p.V45L;	0.999982627682474	0.906
18	21229046	C	G	18	23649082	y	n	splicing	ANKRD29(NM_173505:exon3:c.132+1G>C)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon3:c.132+1G>C;ENST00000284207:exon3:c.132+1G>C;ENST00000322980:exon3:c.132+1G>C;ENST00000586087:exon3:c.132+1G>C)	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G133C:p.V45L;	0.999982627682474	0.906
18	21229046	C	T	18	23649082	y	n	splicing	ANKRD29(NM_173505:exon3:c.132+1G>A)	.	.	exonic;splicing	ENSG00000154065;ENSG00000154065(ENST00000592179:exon3:c.132+1G>A;ENST00000284207:exon3:c.132+1G>A;ENST00000322980:exon3:c.132+1G>A;ENST00000586087:exon3:c.132+1G>A)	nonsynonymous SNV	ENSG00000154065:ENST00000585908:exon2:c.G133A:p.V45I;	0.999982627682474	0.906
18	21229047	G	A	18	23649083	y	n	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon2:c.C132T:p.S44S;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.C132T:p.S44S;ENSG00000154065:ENST00000585908:exon2:c.C132T:p.S44S;ENSG00000154065:ENST00000322980:exon2:c.C132T:p.S44S;ENSG00000154065:ENST00000586087:exon2:c.C132T:p.S44S;ENSG00000154065:ENST00000284207:exon2:c.C132T:p.S44S;	0.00419073601498932	0.218
18	21229047	G	C	18	23649083	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.C132G:p.S44R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.C132G:p.S44R;ENSG00000154065:ENST00000585908:exon2:c.C132G:p.S44R;ENSG00000154065:ENST00000322980:exon2:c.C132G:p.S44R;ENSG00000154065:ENST00000586087:exon2:c.C132G:p.S44R;ENSG00000154065:ENST00000284207:exon2:c.C132G:p.S44R;	2.66442116534545E-4	0.402
18	21229047	G	T	18	23649083	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.C132A:p.S44R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.C132A:p.S44R;ENSG00000154065:ENST00000585908:exon2:c.C132A:p.S44R;ENSG00000154065:ENST00000322980:exon2:c.C132A:p.S44R;ENSG00000154065:ENST00000586087:exon2:c.C132A:p.S44R;ENSG00000154065:ENST00000284207:exon2:c.C132A:p.S44R;	4.49601609127105E-4	0.172
18	21229048	C	A	18	23649084	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.G131T:p.S44I;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.G131T:p.S44I;ENSG00000154065:ENST00000585908:exon2:c.G131T:p.S44I;ENSG00000154065:ENST00000322980:exon2:c.G131T:p.S44I;ENSG00000154065:ENST00000586087:exon2:c.G131T:p.S44I;ENSG00000154065:ENST00000284207:exon2:c.G131T:p.S44I;	0.990206196492792	0.822
18	21229048	C	G	18	23649084	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.G131C:p.S44T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.G131C:p.S44T;ENSG00000154065:ENST00000585908:exon2:c.G131C:p.S44T;ENSG00000154065:ENST00000322980:exon2:c.G131C:p.S44T;ENSG00000154065:ENST00000586087:exon2:c.G131C:p.S44T;ENSG00000154065:ENST00000284207:exon2:c.G131C:p.S44T;	0.99094825154183	0.898
18	21229048	C	T	18	23649084	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.G131A:p.S44N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.G131A:p.S44N;ENSG00000154065:ENST00000585908:exon2:c.G131A:p.S44N;ENSG00000154065:ENST00000322980:exon2:c.G131A:p.S44N;ENSG00000154065:ENST00000586087:exon2:c.G131A:p.S44N;ENSG00000154065:ENST00000284207:exon2:c.G131A:p.S44N;	0.977054550884436	0.598
18	21229049	T	A	18	23649085	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.A130T:p.S44C;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.A130T:p.S44C;ENSG00000154065:ENST00000585908:exon2:c.A130T:p.S44C;ENSG00000154065:ENST00000322980:exon2:c.A130T:p.S44C;ENSG00000154065:ENST00000586087:exon2:c.A130T:p.S44C;ENSG00000154065:ENST00000284207:exon2:c.A130T:p.S44C;	0.990405756881921	0.786
18	21229049	T	C	18	23649085	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.A130G:p.S44G;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.A130G:p.S44G;ENSG00000154065:ENST00000585908:exon2:c.A130G:p.S44G;ENSG00000154065:ENST00000322980:exon2:c.A130G:p.S44G;ENSG00000154065:ENST00000586087:exon2:c.A130G:p.S44G;ENSG00000154065:ENST00000284207:exon2:c.A130G:p.S44G;	0.58770165659853	0.56
18	21229049	T	G	18	23649085	y	n	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.A130C:p.S44R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.A130C:p.S44R;ENSG00000154065:ENST00000585908:exon2:c.A130C:p.S44R;ENSG00000154065:ENST00000322980:exon2:c.A130C:p.S44R;ENSG00000154065:ENST00000586087:exon2:c.A130C:p.S44R;ENSG00000154065:ENST00000284207:exon2:c.A130C:p.S44R;	0.926754994592109	0.75
18	21229156	T	A	18	23649192	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.A23T:p.K8M;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.A23T:p.K8M;ENSG00000154065:ENST00000585908:exon2:c.A23T:p.K8M;ENSG00000154065:ENST00000322980:exon2:c.A23T:p.K8M;ENSG00000154065:ENST00000586087:exon2:c.A23T:p.K8M;ENSG00000154065:ENST00000284207:exon2:c.A23T:p.K8M;	0.906686659486397	0.822
18	21229156	T	C	18	23649192	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.A23G:p.K8R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.A23G:p.K8R;ENSG00000154065:ENST00000585908:exon2:c.A23G:p.K8R;ENSG00000154065:ENST00000322980:exon2:c.A23G:p.K8R;ENSG00000154065:ENST00000586087:exon2:c.A23G:p.K8R;ENSG00000154065:ENST00000284207:exon2:c.A23G:p.K8R;	0.895201357916953	0.648
18	21229156	T	G	18	23649192	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.A23C:p.K8T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.A23C:p.K8T;ENSG00000154065:ENST00000585908:exon2:c.A23C:p.K8T;ENSG00000154065:ENST00000322980:exon2:c.A23C:p.K8T;ENSG00000154065:ENST00000586087:exon2:c.A23C:p.K8T;ENSG00000154065:ENST00000284207:exon2:c.A23C:p.K8T;	0.883498169321236	0.768
18	21229157	T	A	18	23649193	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon2:c.A22T:p.K8X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon2:c.A22T:p.K8X;ENSG00000154065:ENST00000585908:exon2:c.A22T:p.K8X;ENSG00000154065:ENST00000322980:exon2:c.A22T:p.K8X;ENSG00000154065:ENST00000586087:exon2:c.A22T:p.K8X;ENSG00000154065:ENST00000284207:exon2:c.A22T:p.K8X;	0.901587949593624	0.688
18	21229157	T	C	18	23649193	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.A22G:p.K8E;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.A22G:p.K8E;ENSG00000154065:ENST00000585908:exon2:c.A22G:p.K8E;ENSG00000154065:ENST00000322980:exon2:c.A22G:p.K8E;ENSG00000154065:ENST00000586087:exon2:c.A22G:p.K8E;ENSG00000154065:ENST00000284207:exon2:c.A22G:p.K8E;	0.755428657889518	0.702
18	21229157	T	G	18	23649193	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon2:c.A22C:p.K8Q;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon2:c.A22C:p.K8Q;ENSG00000154065:ENST00000585908:exon2:c.A22C:p.K8Q;ENSG00000154065:ENST00000322980:exon2:c.A22C:p.K8Q;ENSG00000154065:ENST00000586087:exon2:c.A22C:p.K8Q;ENSG00000154065:ENST00000284207:exon2:c.A22C:p.K8Q;	0.88053945594596	0.628
18	21229158	C	A	18	23649194	y	y	splicing	ANKRD29(NM_173505:exon3:c.22-1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon3:c.22-1G>T;ENST00000284207:exon3:c.22-1G>T;ENST00000322980:exon3:c.22-1G>T;ENST00000586087:exon3:c.22-1G>T;ENST00000585908:exon3:c.22-1G>T)	.	.	0.999990361384395	0.938
18	21229158	C	G	18	23649194	y	y	splicing	ANKRD29(NM_173505:exon3:c.22-1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon3:c.22-1G>C;ENST00000284207:exon3:c.22-1G>C;ENST00000322980:exon3:c.22-1G>C;ENST00000586087:exon3:c.22-1G>C;ENST00000585908:exon3:c.22-1G>C)	.	.	0.999990361384395	0.938
18	21229158	C	T	18	23649194	y	y	splicing	ANKRD29(NM_173505:exon3:c.22-1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon3:c.22-1G>A;ENST00000284207:exon3:c.22-1G>A;ENST00000322980:exon3:c.22-1G>A;ENST00000586087:exon3:c.22-1G>A;ENST00000585908:exon3:c.22-1G>A)	.	.	0.999990361384395	0.938
18	21229159	T	A	18	23649195	y	y	splicing	ANKRD29(NM_173505:exon3:c.22-2A>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon3:c.22-2A>T;ENST00000284207:exon3:c.22-2A>T;ENST00000322980:exon3:c.22-2A>T;ENST00000586087:exon3:c.22-2A>T;ENST00000585908:exon3:c.22-2A>T)	.	.	0.999988247793601	0.932
18	21229159	T	C	18	23649195	y	y	splicing	ANKRD29(NM_173505:exon3:c.22-2A>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon3:c.22-2A>G;ENST00000284207:exon3:c.22-2A>G;ENST00000322980:exon3:c.22-2A>G;ENST00000586087:exon3:c.22-2A>G;ENST00000585908:exon3:c.22-2A>G)	.	.	0.999988247793601	0.932
18	21229159	T	G	18	23649195	y	y	splicing	ANKRD29(NM_173505:exon3:c.22-2A>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon3:c.22-2A>C;ENST00000284207:exon3:c.22-2A>C;ENST00000322980:exon3:c.22-2A>C;ENST00000586087:exon3:c.22-2A>C;ENST00000585908:exon3:c.22-2A>C)	.	.	0.999988247793601	0.932
18	21229160	G	A	18	23649196	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.996004972189656	0.524
18	21229160	G	C	18	23649196	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999946677324354	0.956
18	21229160	G	T	18	23649196	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999917517914097	0.964
18	21229161	C	A	18	23649197	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	5.04782087598349E-4	0.032
18	21229161	C	G	18	23649197	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.61226321061097E-4	0.01
18	21229161	C	T	18	23649197	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.76169456299933E-4	0.022
18	21229162	A	C	18	23649198	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.102371400147737	0.402
18	21229162	A	G	18	23649198	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0302371743533317	0.15
18	21229162	A	T	18	23649198	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999477792704196	0.884
18	21229163	A	C	18	23649199	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0406258802469303	0.136
18	21229163	A	G	18	23649199	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.41141238391965E-4	0.004
18	21229163	A	T	18	23649199	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00979074225279832	0.104
18	21229164	G	A	18	23649200	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	9.37837125542656E-4	0.008
18	21229164	G	C	18	23649200	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00426637006263187	0.124
18	21229164	G	T	18	23649200	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0130225619470245	0.092
18	21229165	A	C	18	23649201	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0103874584899396	0.152
18	21229165	A	G	18	23649201	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	6.92331977659527E-5	0.004
18	21229165	A	T	18	23649201	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00707997761606767	0.096
18	21229166	A	C	18	23649202	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00182815768725706	0.164
18	21229166	A	G	18	23649202	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.04779304587405E-4	0.154
18	21229166	A	T	18	23649202	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00181111308775744	0.108
18	21229167	C	A	18	23649203	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0207583104567297	0.102
18	21229167	C	G	18	23649203	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.00335815664472829	0.064
18	21229167	C	T	18	23649203	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0921393644298905	0.338
18	21229168	A	C	18	23649204	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0133699391924617	0.16
18	21229168	A	G	18	23649204	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.36747912122966E-4	0.054
18	21229168	A	T	18	23649204	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.999965953588462	0.924
18	21229169	A	C	18	23649205	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.0105381259584128	0.126
18	21229169	A	G	18	23649205	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	7.8310816653474E-4	0.06
18	21229169	A	T	18	23649205	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.14971338494093E-4	0.106
18	21242666	T	A	18	23662702	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.03356473646073E-5	0.0
18	21242666	T	C	18	23662702	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.03356473646073E-5	0.006
18	21242666	T	G	18	23662702	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	8.11051055797707E-5	0.0
18	21242667	C	A	18	23662703	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.29840634748925E-5	0.002
18	21242667	C	G	18	23662703	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.22742148595564E-5	0.002
18	21242667	C	T	18	23662703	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	3.22742148595564E-5	0.002
18	21242668	G	A	18	23662704	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.09843260372959E-4	0.002
18	21242668	G	C	18	23662704	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	2.50889941099392E-4	0.034
18	21242668	G	T	18	23662704	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	4.90747088813274E-4	0.01
18	21242669	C	A	18	23662705	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.854901742261218	0.656
18	21242669	C	G	18	23662705	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.806437599428504	0.504
18	21242669	C	T	18	23662705	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.718019355509189	0.606
18	21242670	T	A	18	23662706	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.940890417216094	0.556
18	21242670	T	C	18	23662706	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.893921253366181	0.486
18	21242670	T	G	18	23662706	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.549846720529568	0.382
18	21242671	C	A	18	23662707	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.659257655020767	0.436
18	21242671	C	G	18	23662707	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	0.18077674197102	0.444
18	21242671	C	T	18	23662707	y	y	intronic	ANKRD29	.	.	intronic	ENSG00000154065	.	.	1.08208504698145E-4	0.006
18	21242672	A	C	18	23662708	y	y	splicing	ANKRD29(NM_173505:exon2:c.21+2T>G)	.	.	splicing	ENSG00000154065(ENST00000592179:exon2:c.21+2T>G;ENST00000322980:exon2:c.21+2T>G;ENST00000586087:exon2:c.21+2T>G;ENST00000585908:exon2:c.21+2T>G)	.	.	0.999961168610083	0.93
18	21242672	A	G	18	23662708	y	y	splicing	ANKRD29(NM_173505:exon2:c.21+2T>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon2:c.21+2T>C;ENST00000322980:exon2:c.21+2T>C;ENST00000586087:exon2:c.21+2T>C;ENST00000585908:exon2:c.21+2T>C)	.	.	0.999927452450333	0.9
18	21242672	A	T	18	23662708	y	y	splicing	ANKRD29(NM_173505:exon2:c.21+2T>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon2:c.21+2T>A;ENST00000322980:exon2:c.21+2T>A;ENST00000586087:exon2:c.21+2T>A;ENST00000585908:exon2:c.21+2T>A)	.	.	0.999961168610083	0.934
18	21242673	C	A	18	23662709	y	y	splicing	ANKRD29(NM_173505:exon2:c.21+1G>T)	.	.	splicing	ENSG00000154065(ENST00000592179:exon2:c.21+1G>T;ENST00000322980:exon2:c.21+1G>T;ENST00000586087:exon2:c.21+1G>T;ENST00000585908:exon2:c.21+1G>T)	.	.	0.999978541384377	0.916
18	21242673	C	G	18	23662709	y	y	splicing	ANKRD29(NM_173505:exon2:c.21+1G>C)	.	.	splicing	ENSG00000154065(ENST00000592179:exon2:c.21+1G>C;ENST00000322980:exon2:c.21+1G>C;ENST00000586087:exon2:c.21+1G>C;ENST00000585908:exon2:c.21+1G>C)	.	.	0.999978541384377	0.938
18	21242673	C	T	18	23662709	y	y	splicing	ANKRD29(NM_173505:exon2:c.21+1G>A)	.	.	splicing	ENSG00000154065(ENST00000592179:exon2:c.21+1G>A;ENST00000322980:exon2:c.21+1G>A;ENST00000586087:exon2:c.21+1G>A;ENST00000585908:exon2:c.21+1G>A)	.	.	0.999978541384377	0.944
18	21242674	C	A	18	23662710	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon1:c.G21T:p.K7N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon1:c.G21T:p.K7N;ENSG00000154065:ENST00000585908:exon1:c.G21T:p.K7N;ENSG00000154065:ENST00000322980:exon1:c.G21T:p.K7N;ENSG00000154065:ENST00000586087:exon1:c.G21T:p.K7N;	0.999498510358667	0.982
18	21242674	C	G	18	23662710	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon1:c.G21C:p.K7N;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon1:c.G21C:p.K7N;ENSG00000154065:ENST00000585908:exon1:c.G21C:p.K7N;ENSG00000154065:ENST00000322980:exon1:c.G21C:p.K7N;ENSG00000154065:ENST00000586087:exon1:c.G21C:p.K7N;	0.999949880925237	0.958
18	21242674	C	T	18	23662710	y	y	exonic	ANKRD29	synonymous SNV	ANKRD29:NM_173505:exon1:c.G21A:p.K7K;	exonic	ENSG00000154065	synonymous SNV	ENSG00000154065:ENST00000592179:exon1:c.G21A:p.K7K;ENSG00000154065:ENST00000585908:exon1:c.G21A:p.K7K;ENSG00000154065:ENST00000322980:exon1:c.G21A:p.K7K;ENSG00000154065:ENST00000586087:exon1:c.G21A:p.K7K;	0.999382093579378	0.97
18	21242675	T	A	18	23662711	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon1:c.A20T:p.K7M;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon1:c.A20T:p.K7M;ENSG00000154065:ENST00000585908:exon1:c.A20T:p.K7M;ENSG00000154065:ENST00000322980:exon1:c.A20T:p.K7M;ENSG00000154065:ENST00000586087:exon1:c.A20T:p.K7M;	0.461281465883233	0.62
18	21242675	T	C	18	23662711	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon1:c.A20G:p.K7R;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon1:c.A20G:p.K7R;ENSG00000154065:ENST00000585908:exon1:c.A20G:p.K7R;ENSG00000154065:ENST00000322980:exon1:c.A20G:p.K7R;ENSG00000154065:ENST00000586087:exon1:c.A20G:p.K7R;	0.642882960365638	0.598
18	21242675	T	G	18	23662711	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon1:c.A20C:p.K7T;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon1:c.A20C:p.K7T;ENSG00000154065:ENST00000585908:exon1:c.A20C:p.K7T;ENSG00000154065:ENST00000322980:exon1:c.A20C:p.K7T;ENSG00000154065:ENST00000586087:exon1:c.A20C:p.K7T;	0.668902104149213	0.66
18	21242676	T	A	18	23662712	y	y	exonic	ANKRD29	stopgain SNV	ANKRD29:NM_173505:exon1:c.A19T:p.K7X;	exonic	ENSG00000154065	stopgain SNV	ENSG00000154065:ENST00000592179:exon1:c.A19T:p.K7X;ENSG00000154065:ENST00000585908:exon1:c.A19T:p.K7X;ENSG00000154065:ENST00000322980:exon1:c.A19T:p.K7X;ENSG00000154065:ENST00000586087:exon1:c.A19T:p.K7X;	0.174878878204046	0.478
18	21242676	T	C	18	23662712	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon1:c.A19G:p.K7E;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon1:c.A19G:p.K7E;ENSG00000154065:ENST00000585908:exon1:c.A19G:p.K7E;ENSG00000154065:ENST00000322980:exon1:c.A19G:p.K7E;ENSG00000154065:ENST00000586087:exon1:c.A19G:p.K7E;	0.00427706211675306	0.026
18	21242676	T	G	18	23662712	y	y	exonic	ANKRD29	nonsynonymous SNV	ANKRD29:NM_173505:exon1:c.A19C:p.K7Q;	exonic	ENSG00000154065	nonsynonymous SNV	ENSG00000154065:ENST00000592179:exon1:c.A19C:p.K7Q;ENSG00000154065:ENST00000585908:exon1:c.A19C:p.K7Q;ENSG00000154065:ENST00000322980:exon1:c.A19C:p.K7Q;ENSG00000154065:ENST00000586087:exon1:c.A19C:p.K7Q;	3.69130094824882E-4	0.006
18	21269939	C	A	18	23689975	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon1:c.C292A:p.Q98K;LAMA3:NM_001127717:exon1:c.C292A:p.Q98K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon1:c.C292A:p.Q98K;ENSG00000053747:ENST00000399516:exon1:c.C292A:p.Q98K;ENSG00000053747:ENST00000313654:exon1:c.C292A:p.Q98K;	0.0310180642232524	0.202
18	21269939	C	G	18	23689975	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon1:c.C292G:p.Q98E;LAMA3:NM_001127717:exon1:c.C292G:p.Q98E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon1:c.C292G:p.Q98E;ENSG00000053747:ENST00000399516:exon1:c.C292G:p.Q98E;ENSG00000053747:ENST00000313654:exon1:c.C292G:p.Q98E;	0.0145990234864515	0.186
18	21269939	C	T	18	23689975	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon1:c.C292T:p.Q98X;LAMA3:NM_001127717:exon1:c.C292T:p.Q98X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000585600:exon1:c.C292T:p.Q98X;ENSG00000053747:ENST00000399516:exon1:c.C292T:p.Q98X;ENSG00000053747:ENST00000313654:exon1:c.C292T:p.Q98X;	0.522044612793286	0.64
18	21269940	A	C	18	23689976	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon1:c.A293C:p.Q98P;LAMA3:NM_001127717:exon1:c.A293C:p.Q98P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon1:c.A293C:p.Q98P;ENSG00000053747:ENST00000399516:exon1:c.A293C:p.Q98P;ENSG00000053747:ENST00000313654:exon1:c.A293C:p.Q98P;	0.990978643535104	0.846
18	21269940	A	G	18	23689976	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon1:c.A293G:p.Q98R;LAMA3:NM_001127717:exon1:c.A293G:p.Q98R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon1:c.A293G:p.Q98R;ENSG00000053747:ENST00000399516:exon1:c.A293G:p.Q98R;ENSG00000053747:ENST00000313654:exon1:c.A293G:p.Q98R;	0.979625809192167	0.882
18	21269940	A	T	18	23689976	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon1:c.A293T:p.Q98L;LAMA3:NM_001127717:exon1:c.A293T:p.Q98L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon1:c.A293T:p.Q98L;ENSG00000053747:ENST00000399516:exon1:c.A293T:p.Q98L;ENSG00000053747:ENST00000313654:exon1:c.A293T:p.Q98L;	0.978187306877306	0.798
18	21269941	G	A	18	23689977	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon1:c.G294A:p.Q98Q;LAMA3:NM_001127717:exon1:c.G294A:p.Q98Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon1:c.G294A:p.Q98Q;ENSG00000053747:ENST00000399516:exon1:c.G294A:p.Q98Q;ENSG00000053747:ENST00000313654:exon1:c.G294A:p.Q98Q;	0.998428318369738	0.77
18	21269941	G	C	18	23689977	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon1:c.G294C:p.Q98H;LAMA3:NM_001127717:exon1:c.G294C:p.Q98H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon1:c.G294C:p.Q98H;ENSG00000053747:ENST00000399516:exon1:c.G294C:p.Q98H;ENSG00000053747:ENST00000313654:exon1:c.G294C:p.Q98H;	0.99999482177182	0.998
18	21269941	G	T	18	23689977	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon1:c.G294T:p.Q98H;LAMA3:NM_001127717:exon1:c.G294T:p.Q98H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon1:c.G294T:p.Q98H;ENSG00000053747:ENST00000399516:exon1:c.G294T:p.Q98H;ENSG00000053747:ENST00000313654:exon1:c.G294T:p.Q98H;	0.999972155300289	0.996
18	21269942	G	A	18	23689978	y	y	splicing	LAMA3(NM_001127717:exon1:c.294+1G>A;NM_198129:exon1:c.294+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon1:c.294+1G>A;ENST00000585600:exon1:c.294+1G>A;ENST00000399516:exon1:c.294+1G>A)	.	.	0.999988247793601	0.928
18	21269942	G	C	18	23689978	y	y	splicing	LAMA3(NM_001127717:exon1:c.294+1G>C;NM_198129:exon1:c.294+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon1:c.294+1G>C;ENST00000585600:exon1:c.294+1G>C;ENST00000399516:exon1:c.294+1G>C)	.	.	0.999988247793601	0.928
18	21269942	G	T	18	23689978	y	y	splicing	LAMA3(NM_001127717:exon1:c.294+1G>T;NM_198129:exon1:c.294+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon1:c.294+1G>T;ENST00000585600:exon1:c.294+1G>T;ENST00000399516:exon1:c.294+1G>T)	.	.	0.999988247793601	0.928
18	21269943	T	A	18	23689979	y	y	splicing	LAMA3(NM_001127717:exon1:c.294+2T>A;NM_198129:exon1:c.294+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon1:c.294+2T>A;ENST00000585600:exon1:c.294+2T>A;ENST00000399516:exon1:c.294+2T>A)	.	.	0.999993672935256	0.926
18	21269943	T	C	18	23689979	y	y	splicing	LAMA3(NM_001127717:exon1:c.294+2T>C;NM_198129:exon1:c.294+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon1:c.294+2T>C;ENST00000585600:exon1:c.294+2T>C;ENST00000399516:exon1:c.294+2T>C)	.	.	0.999959541454763	0.862
18	21269943	T	G	18	23689979	y	y	splicing	LAMA3(NM_001127717:exon1:c.294+2T>G;NM_198129:exon1:c.294+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon1:c.294+2T>G;ENST00000585600:exon1:c.294+2T>G;ENST00000399516:exon1:c.294+2T>G)	.	.	0.999993672935256	0.926
18	21269944	G	A	18	23689980	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.9691157892553E-5	0.006
18	21269944	G	C	18	23689980	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.293219878198347	0.444
18	21269944	G	T	18	23689980	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.40966340351758	0.418
18	21269945	A	C	18	23689981	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.525313679936873	0.348
18	21269945	A	G	18	23689981	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.917028048778135	0.586
18	21269945	A	T	18	23689981	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.93705766235986	0.538
18	21269946	G	A	18	23689982	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.67934511007902	0.61
18	21269946	G	C	18	23689982	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.556113727003364	0.504
18	21269946	G	T	18	23689982	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.883786239082674	0.634
18	21269947	G	A	18	23689983	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71085922660673E-4	0.018
18	21269947	G	C	18	23689983	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.88222112172079E-4	0.02
18	21269947	G	T	18	23689983	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.55890373047971E-5	0.002
18	21269948	G	A	18	23689984	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.48693328367844E-5	0.026
18	21269948	G	C	18	23689984	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.45198769625064E-5	0.008
18	21269948	G	T	18	23689984	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.46945386889466E-5	0.016
18	21269949	C	A	18	23689985	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.32125269285996E-4	0.068
18	21269949	C	G	18	23689985	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.32125269285996E-4	0.002
18	21269949	C	T	18	23689985	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.32125269285996E-4	0.0
18	21293872	T	A	18	23713908	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.01231277398024E-4	0.016
18	21293872	T	C	18	23713908	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.69819134859633E-5	0.002
18	21293872	T	G	18	23713908	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.11797376955132E-4	0.008
18	21293873	T	A	18	23713909	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.5771124149566E-4	0.064
18	21293873	T	C	18	23713909	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.43200597367207E-5	0.008
18	21293873	T	G	18	23713909	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.7469494588867E-4	0.09
18	21293874	T	A	18	23713910	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.43649091130828E-4	0.064
18	21293874	T	C	18	23713910	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.40027073803393E-5	0.002
18	21293874	T	G	18	23713910	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.29757880757244E-5	0.094
18	21293875	T	A	18	23713911	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.169530215645E-5	0.028
18	21293875	T	C	18	23713911	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.42464982826761E-5	0.0
18	21293875	T	G	18	23713911	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.32659278419643E-5	0.042
18	21293876	T	A	18	23713912	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.28931178998816E-5	0.01
18	21293876	T	C	18	23713912	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.4941752860802E-5	0.006
18	21293876	T	G	18	23713912	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.55856985430698E-5	0.012
18	21293877	T	A	18	23713913	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.02935402897534E-5	0.002
18	21293877	T	C	18	23713913	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.6514144931966E-5	0.004
18	21293877	T	G	18	23713913	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.73516160998504E-5	0.004
18	21293878	T	A	18	23713914	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09058049267326E-4	0.11
18	21293878	T	C	18	23713914	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.60634861110818E-5	0.024
18	21293878	T	G	18	23713914	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.50149942113653E-4	0.1
18	21293879	T	A	18	23713915	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.12360559350294E-5	0.144
18	21293879	T	C	18	23713915	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.18613429752117E-5	0.008
18	21293879	T	G	18	23713915	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.67700473756872E-4	0.144
18	21293880	T	A	18	23713916	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.18423594866241E-5	0.002
18	21293880	T	C	18	23713916	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.88002806769063E-5	0.006
18	21293880	T	G	18	23713916	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.67929880326897E-5	0.004
18	21293881	C	A	18	23713917	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.361924885767013	0.442
18	21293881	C	G	18	23713917	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99970525291938	0.848
18	21293881	C	T	18	23713917	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0918018128516152	0.226
18	21293882	A	C	18	23713918	y	y	splicing	LAMA3(NM_001127717:exon2:c.295-2A>C;NM_198129:exon2:c.295-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.295-2A>C;ENST00000585600:exon2:c.295-2A>C;ENST00000399516:exon2:c.295-2A>C)	.	.	0.999988247793601	0.928
18	21293882	A	G	18	23713918	y	y	splicing	LAMA3(NM_001127717:exon2:c.295-2A>G;NM_198129:exon2:c.295-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.295-2A>G;ENST00000585600:exon2:c.295-2A>G;ENST00000399516:exon2:c.295-2A>G)	.	.	0.999988247793601	0.928
18	21293882	A	T	18	23713918	y	y	splicing	LAMA3(NM_001127717:exon2:c.295-2A>T;NM_198129:exon2:c.295-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.295-2A>T;ENST00000585600:exon2:c.295-2A>T;ENST00000399516:exon2:c.295-2A>T)	.	.	0.999988247793601	0.928
18	21293883	G	A	18	23713919	y	y	splicing	LAMA3(NM_001127717:exon2:c.295-1G>A;NM_198129:exon2:c.295-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.295-1G>A;ENST00000585600:exon2:c.295-1G>A;ENST00000399516:exon2:c.295-1G>A)	.	.	0.999985532734767	0.938
18	21293883	G	C	18	23713919	y	y	splicing	LAMA3(NM_001127717:exon2:c.295-1G>C;NM_198129:exon2:c.295-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.295-1G>C;ENST00000585600:exon2:c.295-1G>C;ENST00000399516:exon2:c.295-1G>C)	.	.	0.999985532734767	0.938
18	21293883	G	T	18	23713919	y	y	splicing	LAMA3(NM_001127717:exon2:c.295-1G>T;NM_198129:exon2:c.295-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.295-1G>T;ENST00000585600:exon2:c.295-1G>T;ENST00000399516:exon2:c.295-1G>T)	.	.	0.999985532734767	0.938
18	21293884	G	A	18	23713920	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.G295A:p.G99S;LAMA3:NM_001127717:exon2:c.G295A:p.G99S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G295A:p.G99S;ENSG00000053747:ENST00000399516:exon2:c.G295A:p.G99S;ENSG00000053747:ENST00000313654:exon2:c.G295A:p.G99S;	0.998593199472419	0.79
18	21293884	G	C	18	23713920	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.G295C:p.G99R;LAMA3:NM_001127717:exon2:c.G295C:p.G99R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G295C:p.G99R;ENSG00000053747:ENST00000399516:exon2:c.G295C:p.G99R;ENSG00000053747:ENST00000313654:exon2:c.G295C:p.G99R;	0.997487313220659	0.78
18	21293884	G	T	18	23713920	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.G295T:p.G99C;LAMA3:NM_001127717:exon2:c.G295T:p.G99C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G295T:p.G99C;ENSG00000053747:ENST00000399516:exon2:c.G295T:p.G99C;ENSG00000053747:ENST00000313654:exon2:c.G295T:p.G99C;	0.996840943049537	0.718
18	21293885	G	A	18	23713921	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.G296A:p.G99D;LAMA3:NM_001127717:exon2:c.G296A:p.G99D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G296A:p.G99D;ENSG00000053747:ENST00000399516:exon2:c.G296A:p.G99D;ENSG00000053747:ENST00000313654:exon2:c.G296A:p.G99D;	0.988622732636062	0.876
18	21293885	G	C	18	23713921	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.G296C:p.G99A;LAMA3:NM_001127717:exon2:c.G296C:p.G99A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G296C:p.G99A;ENSG00000053747:ENST00000399516:exon2:c.G296C:p.G99A;ENSG00000053747:ENST00000313654:exon2:c.G296C:p.G99A;	0.986779842938534	0.842
18	21293885	G	T	18	23713921	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.G296T:p.G99V;LAMA3:NM_001127717:exon2:c.G296T:p.G99V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G296T:p.G99V;ENSG00000053747:ENST00000399516:exon2:c.G296T:p.G99V;ENSG00000053747:ENST00000313654:exon2:c.G296T:p.G99V;	0.974122690956094	0.88
18	21294034	C	A	18	23714070	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.C445A:p.Q149K;LAMA3:NM_001127717:exon2:c.C445A:p.Q149K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.C445A:p.Q149K;ENSG00000053747:ENST00000399516:exon2:c.C445A:p.Q149K;ENSG00000053747:ENST00000313654:exon2:c.C445A:p.Q149K;	0.918316970881428	0.808
18	21294034	C	G	18	23714070	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.C445G:p.Q149E;LAMA3:NM_001127717:exon2:c.C445G:p.Q149E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.C445G:p.Q149E;ENSG00000053747:ENST00000399516:exon2:c.C445G:p.Q149E;ENSG00000053747:ENST00000313654:exon2:c.C445G:p.Q149E;	0.988793441516058	0.684
18	21294034	C	T	18	23714070	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon2:c.C445T:p.Q149X;LAMA3:NM_001127717:exon2:c.C445T:p.Q149X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000585600:exon2:c.C445T:p.Q149X;ENSG00000053747:ENST00000399516:exon2:c.C445T:p.Q149X;ENSG00000053747:ENST00000313654:exon2:c.C445T:p.Q149X;	0.999006360002742	0.882
18	21294035	A	C	18	23714071	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.A446C:p.Q149P;LAMA3:NM_001127717:exon2:c.A446C:p.Q149P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.A446C:p.Q149P;ENSG00000053747:ENST00000399516:exon2:c.A446C:p.Q149P;ENSG00000053747:ENST00000313654:exon2:c.A446C:p.Q149P;	0.999614508756627	0.974
18	21294035	A	G	18	23714071	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.A446G:p.Q149R;LAMA3:NM_001127717:exon2:c.A446G:p.Q149R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.A446G:p.Q149R;ENSG00000053747:ENST00000399516:exon2:c.A446G:p.Q149R;ENSG00000053747:ENST00000313654:exon2:c.A446G:p.Q149R;	0.999876493075956	0.984
18	21294035	A	T	18	23714071	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.A446T:p.Q149L;LAMA3:NM_001127717:exon2:c.A446T:p.Q149L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.A446T:p.Q149L;ENSG00000053747:ENST00000399516:exon2:c.A446T:p.Q149L;ENSG00000053747:ENST00000313654:exon2:c.A446T:p.Q149L;	0.999862146923769	0.976
18	21294036	G	A	18	23714072	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon2:c.G447A:p.Q149Q;LAMA3:NM_001127717:exon2:c.G447A:p.Q149Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G447A:p.Q149Q;ENSG00000053747:ENST00000399516:exon2:c.G447A:p.Q149Q;ENSG00000053747:ENST00000313654:exon2:c.G447A:p.Q149Q;	0.747663722628182	0.822
18	21294036	G	C	18	23714072	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.G447C:p.Q149H;LAMA3:NM_001127717:exon2:c.G447C:p.Q149H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G447C:p.Q149H;ENSG00000053747:ENST00000399516:exon2:c.G447C:p.Q149H;ENSG00000053747:ENST00000313654:exon2:c.G447C:p.Q149H;	0.999940541034979	0.954
18	21294036	G	T	18	23714072	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon2:c.G447T:p.Q149H;LAMA3:NM_001127717:exon2:c.G447T:p.Q149H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon2:c.G447T:p.Q149H;ENSG00000053747:ENST00000399516:exon2:c.G447T:p.Q149H;ENSG00000053747:ENST00000313654:exon2:c.G447T:p.Q149H;	0.99966788273071	0.948
18	21294037	G	A	18	23714073	y	y	splicing	LAMA3(NM_001127717:exon2:c.447+1G>A;NM_198129:exon2:c.447+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.447+1G>A;ENST00000585600:exon2:c.447+1G>A;ENST00000399516:exon2:c.447+1G>A)	.	.	0.999985532734767	0.948
18	21294037	G	C	18	23714073	y	y	splicing	LAMA3(NM_001127717:exon2:c.447+1G>C;NM_198129:exon2:c.447+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.447+1G>C;ENST00000585600:exon2:c.447+1G>C;ENST00000399516:exon2:c.447+1G>C)	.	.	0.999985532734767	0.948
18	21294037	G	T	18	23714073	y	y	splicing	LAMA3(NM_001127717:exon2:c.447+1G>T;NM_198129:exon2:c.447+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.447+1G>T;ENST00000585600:exon2:c.447+1G>T;ENST00000399516:exon2:c.447+1G>T)	.	.	0.999985532734767	0.948
18	21294038	T	A	18	23714074	y	y	splicing	LAMA3(NM_001127717:exon2:c.447+2T>A;NM_198129:exon2:c.447+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.447+2T>A;ENST00000585600:exon2:c.447+2T>A;ENST00000399516:exon2:c.447+2T>A)	.	.	0.999988247793601	0.946
18	21294038	T	C	18	23714074	y	y	splicing	LAMA3(NM_001127717:exon2:c.447+2T>C;NM_198129:exon2:c.447+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.447+2T>C;ENST00000585600:exon2:c.447+2T>C;ENST00000399516:exon2:c.447+2T>C)	.	.	0.999929727175276	0.876
18	21294038	T	G	18	23714074	y	y	splicing	LAMA3(NM_001127717:exon2:c.447+2T>G;NM_198129:exon2:c.447+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon2:c.447+2T>G;ENST00000585600:exon2:c.447+2T>G;ENST00000399516:exon2:c.447+2T>G)	.	.	0.999988247793601	0.946
18	21294039	G	A	18	23714075	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.05783668758939E-5	0.004
18	21294039	G	C	18	23714075	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0227974101449266	0.408
18	21294039	G	T	18	23714075	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.791113399940024	0.498
18	21294040	A	C	18	23714076	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.248129954038777	0.336
18	21294040	A	G	18	23714076	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0988092019258525	0.328
18	21294040	A	T	18	23714076	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.583753200263484	0.476
18	21294041	G	A	18	23714077	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997456335202463	0.9
18	21294041	G	C	18	23714077	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.985608370090641	0.704
18	21294041	G	T	18	23714077	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995925685299652	0.876
18	21294042	C	A	18	23714078	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00120561433012321	0.034
18	21294042	C	G	18	23714078	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.70468287193053E-4	0.08
18	21294042	C	T	18	23714078	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.31969226614125E-5	0.008
18	21294043	T	A	18	23714079	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.50357335416816E-5	0.002
18	21294043	T	C	18	23714079	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.50357335416816E-5	0.0
18	21294043	T	G	18	23714079	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.50357335416816E-5	0.0
18	21294044	A	C	18	23714080	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.99588217571521E-5	0.002
18	21294044	A	G	18	23714080	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.48936342327448E-5	0.0
18	21294044	A	T	18	23714080	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.54415034648304E-5	0.02
18	21327895	T	A	18	23747931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.990409272588236	0.768
18	21327895	T	C	18	23747931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0167965332323808	0.182
18	21327895	T	G	18	23747931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.94326467442159	0.672
18	21327896	T	A	18	23747932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999554817669988	0.924
18	21327896	T	C	18	23747932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0024061377854711	0.064
18	21327896	T	G	18	23747932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.357685939830108	0.432
18	21327897	G	A	18	23747933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.47905245334084E-5	0.0
18	21327897	G	C	18	23747933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.74029138251042E-5	0.0
18	21327897	G	T	18	23747933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.30913980167211E-5	0.004
18	21327898	T	A	18	23747934	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00105612032355258	0.068
18	21327898	T	C	18	23747934	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.74370192450009E-4	0.0
18	21327898	T	G	18	23747934	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00122190848035169	0.062
18	21327899	T	A	18	23747935	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00570056752390198	0.158
18	21327899	T	C	18	23747935	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.82520486127886E-5	0.01
18	21327899	T	G	18	23747935	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0074654629458763	0.122
18	21327900	T	A	18	23747936	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.600539160308067	0.49
18	21327900	T	C	18	23747936	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.72053730364114E-5	0.016
18	21327900	T	G	18	23747936	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0374872875117692	0.294
18	21327901	T	A	18	23747937	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0010127534706803	0.114
18	21327901	T	C	18	23747937	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.44995119127825E-5	0.062
18	21327901	T	G	18	23747937	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00207371829146039	0.12
18	21327902	A	C	18	23747938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81660547812842E-5	0.0
18	21327902	A	G	18	23747938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.82093104741667E-4	0.002
18	21327902	A	T	18	23747938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.17249250315053E-5	0.0
18	21327903	T	A	18	23747939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.81661162237599E-5	0.008
18	21327903	T	C	18	23747939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.35029724344624E-5	0.0
18	21327903	T	G	18	23747939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.822529159507496	0.578
18	21327904	C	A	18	23747940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.866647152566109	0.658
18	21327904	C	G	18	23747940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999901380696502	0.94
18	21327904	C	T	18	23747940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00303828426844152	0.044
18	21327905	A	C	18	23747941	y	y	splicing	LAMA3(NM_001127717:exon3:c.448-2A>C;NM_198129:exon3:c.448-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.448-2A>C;ENST00000585600:exon3:c.448-2A>C;ENST00000399516:exon3:c.448-2A>C)	.	.	0.999946188727699	0.948
18	21327905	A	G	18	23747941	y	y	splicing	LAMA3(NM_001127717:exon3:c.448-2A>G;NM_198129:exon3:c.448-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.448-2A>G;ENST00000585600:exon3:c.448-2A>G;ENST00000399516:exon3:c.448-2A>G)	.	.	0.999946188727699	0.948
18	21327905	A	T	18	23747941	y	y	splicing	LAMA3(NM_001127717:exon3:c.448-2A>T;NM_198129:exon3:c.448-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.448-2A>T;ENST00000585600:exon3:c.448-2A>T;ENST00000399516:exon3:c.448-2A>T)	.	.	0.99994568797423	0.948
18	21327906	G	A	18	23747942	y	y	splicing	LAMA3(NM_001127717:exon3:c.448-1G>A;NM_198129:exon3:c.448-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.448-1G>A;ENST00000585600:exon3:c.448-1G>A;ENST00000399516:exon3:c.448-1G>A)	.	.	0.99995545544995	0.93
18	21327906	G	C	18	23747942	y	y	splicing	LAMA3(NM_001127717:exon3:c.448-1G>C;NM_198129:exon3:c.448-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.448-1G>C;ENST00000585600:exon3:c.448-1G>C;ENST00000399516:exon3:c.448-1G>C)	.	.	0.99995545544995	0.934
18	21327906	G	T	18	23747942	y	y	splicing	LAMA3(NM_001127717:exon3:c.448-1G>T;NM_198129:exon3:c.448-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.448-1G>T;ENST00000585600:exon3:c.448-1G>T;ENST00000399516:exon3:c.448-1G>T)	.	.	0.99995545544995	0.934
18	21327907	C	A	18	23747943	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C448A:p.L150I;LAMA3:NM_001127717:exon3:c.C448A:p.L150I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C448A:p.L150I;ENSG00000053747:ENST00000399516:exon3:c.C448A:p.L150I;ENSG00000053747:ENST00000313654:exon3:c.C448A:p.L150I;	0.00168973748330705	0.066
18	21327907	C	G	18	23747943	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C448G:p.L150V;LAMA3:NM_001127717:exon3:c.C448G:p.L150V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C448G:p.L150V;ENSG00000053747:ENST00000399516:exon3:c.C448G:p.L150V;ENSG00000053747:ENST00000313654:exon3:c.C448G:p.L150V;	4.30239323275798E-4	0.08
18	21327907	C	T	18	23747943	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C448T:p.L150F;LAMA3:NM_001127717:exon3:c.C448T:p.L150F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C448T:p.L150F;ENSG00000053747:ENST00000399516:exon3:c.C448T:p.L150F;ENSG00000053747:ENST00000313654:exon3:c.C448T:p.L150F;	0.0080628985223667	0.086
18	21327908	T	A	18	23747944	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.T449A:p.L150H;LAMA3:NM_001127717:exon3:c.T449A:p.L150H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.T449A:p.L150H;ENSG00000053747:ENST00000399516:exon3:c.T449A:p.L150H;ENSG00000053747:ENST00000313654:exon3:c.T449A:p.L150H;	0.732536681875479	0.418
18	21327908	T	C	18	23747944	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.T449C:p.L150P;LAMA3:NM_001127717:exon3:c.T449C:p.L150P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.T449C:p.L150P;ENSG00000053747:ENST00000399516:exon3:c.T449C:p.L150P;ENSG00000053747:ENST00000313654:exon3:c.T449C:p.L150P;	0.732536681875479	0.424
18	21327908	T	G	18	23747944	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.T449G:p.L150R;LAMA3:NM_001127717:exon3:c.T449G:p.L150R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.T449G:p.L150R;ENSG00000053747:ENST00000399516:exon3:c.T449G:p.L150R;ENSG00000053747:ENST00000313654:exon3:c.T449G:p.L150R;	0.745529207830892	0.382
18	21328022	C	A	18	23748058	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C563A:p.A188D;LAMA3:NM_001127717:exon3:c.C563A:p.A188D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C563A:p.A188D;ENSG00000053747:ENST00000399516:exon3:c.C563A:p.A188D;ENSG00000053747:ENST00000313654:exon3:c.C563A:p.A188D;	0.963132947619182	0.826
18	21328022	C	G	18	23748058	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C563G:p.A188G;LAMA3:NM_001127717:exon3:c.C563G:p.A188G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C563G:p.A188G;ENSG00000053747:ENST00000399516:exon3:c.C563G:p.A188G;ENSG00000053747:ENST00000313654:exon3:c.C563G:p.A188G;	0.937778096462916	0.678
18	21328022	C	T	18	23748058	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C563T:p.A188V;LAMA3:NM_001127717:exon3:c.C563T:p.A188V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C563T:p.A188V;ENSG00000053747:ENST00000399516:exon3:c.C563T:p.A188V;ENSG00000053747:ENST00000313654:exon3:c.C563T:p.A188V;	0.998603276590994	0.774
18	21328023	T	A	18	23748059	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon3:c.T564A:p.A188A;LAMA3:NM_001127717:exon3:c.T564A:p.A188A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.T564A:p.A188A;ENSG00000053747:ENST00000399516:exon3:c.T564A:p.A188A;ENSG00000053747:ENST00000313654:exon3:c.T564A:p.A188A;	2.42023429714509E-4	0.174
18	21328023	T	C	18	23748059	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon3:c.T564C:p.A188A;LAMA3:NM_001127717:exon3:c.T564C:p.A188A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.T564C:p.A188A;ENSG00000053747:ENST00000399516:exon3:c.T564C:p.A188A;ENSG00000053747:ENST00000313654:exon3:c.T564C:p.A188A;	2.50938305112327E-4	0.012
18	21328023	T	G	18	23748059	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon3:c.T564G:p.A188A;LAMA3:NM_001127717:exon3:c.T564G:p.A188A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.T564G:p.A188A;ENSG00000053747:ENST00000399516:exon3:c.T564G:p.A188A;ENSG00000053747:ENST00000313654:exon3:c.T564G:p.A188A;	8.6071684137244E-4	0.108
18	21328024	C	A	18	23748060	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C565A:p.H189N;LAMA3:NM_001127717:exon3:c.C565A:p.H189N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C565A:p.H189N;ENSG00000053747:ENST00000399516:exon3:c.C565A:p.H189N;ENSG00000053747:ENST00000313654:exon3:c.C565A:p.H189N;	0.0016628415705891	0.08
18	21328024	C	G	18	23748060	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C565G:p.H189D;LAMA3:NM_001127717:exon3:c.C565G:p.H189D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C565G:p.H189D;ENSG00000053747:ENST00000399516:exon3:c.C565G:p.H189D;ENSG00000053747:ENST00000313654:exon3:c.C565G:p.H189D;	2.68822130462662E-4	0.156
18	21328024	C	T	18	23748060	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon3:c.C565T:p.H189Y;LAMA3:NM_001127717:exon3:c.C565T:p.H189Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon3:c.C565T:p.H189Y;ENSG00000053747:ENST00000399516:exon3:c.C565T:p.H189Y;ENSG00000053747:ENST00000313654:exon3:c.C565T:p.H189Y;	0.0271468869331704	0.262
18	21328025	G	A	18	23748061	y	y	splicing	LAMA3(NM_001127717:exon3:c.565+1G>A;NM_198129:exon3:c.565+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.565+1G>A;ENST00000585600:exon3:c.565+1G>A;ENST00000399516:exon3:c.565+1G>A)	.	.	0.999985532734767	0.938
18	21328025	G	C	18	23748061	y	y	splicing	LAMA3(NM_001127717:exon3:c.565+1G>C;NM_198129:exon3:c.565+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.565+1G>C;ENST00000585600:exon3:c.565+1G>C;ENST00000399516:exon3:c.565+1G>C)	.	.	0.999985532734767	0.938
18	21328025	G	T	18	23748061	y	y	splicing	LAMA3(NM_001127717:exon3:c.565+1G>T;NM_198129:exon3:c.565+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.565+1G>T;ENST00000585600:exon3:c.565+1G>T;ENST00000399516:exon3:c.565+1G>T)	.	.	0.999985532734767	0.938
18	21328026	T	A	18	23748062	y	y	splicing	LAMA3(NM_001127717:exon3:c.565+2T>A;NM_198129:exon3:c.565+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.565+2T>A;ENST00000585600:exon3:c.565+2T>A;ENST00000399516:exon3:c.565+2T>A)	.	.	0.999988247793601	0.928
18	21328026	T	C	18	23748062	y	y	splicing	LAMA3(NM_001127717:exon3:c.565+2T>C;NM_198129:exon3:c.565+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.565+2T>C;ENST00000585600:exon3:c.565+2T>C;ENST00000399516:exon3:c.565+2T>C)	.	.	0.99340600729494	0.676
18	21328026	T	G	18	23748062	y	y	splicing	LAMA3(NM_001127717:exon3:c.565+2T>G;NM_198129:exon3:c.565+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon3:c.565+2T>G;ENST00000585600:exon3:c.565+2T>G;ENST00000399516:exon3:c.565+2T>G)	.	.	0.999988247793601	0.928
18	21328027	A	C	18	23748063	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99920384824667	0.892
18	21328027	A	G	18	23748063	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.153610579946672	0.35
18	21328027	A	T	18	23748063	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999899259878588	0.926
18	21328028	A	C	18	23748064	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998352889917295	0.922
18	21328028	A	G	18	23748064	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997671216343133	0.982
18	21328028	A	T	18	23748064	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997862314243657	0.956
18	21328029	G	A	18	23748065	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999965845723167	0.998
18	21328029	G	C	18	23748065	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999983460720395	0.976
18	21328029	G	T	18	23748065	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999961279603752	0.98
18	21328030	T	A	18	23748066	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996376411849031	0.736
18	21328030	T	C	18	23748066	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99052845744852	0.846
18	21328030	T	G	18	23748066	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997967664919257	0.91
18	21328031	A	C	18	23748067	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00243483211121124	0.01
18	21328031	A	G	18	23748067	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00189142985166135	0.0
18	21328031	A	T	18	23748067	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.58718331421231E-4	0.0
18	21328032	A	C	18	23748068	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.4816595910341E-4	0.004
18	21328032	A	G	18	23748068	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.96987804535067E-5	0.002
18	21328032	A	T	18	23748068	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.17014716175703E-4	0.006
18	21329380	T	A	18	23749416	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.04235966925016E-4	0.04
18	21329380	T	C	18	23749416	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.4652516414449E-5	0.0
18	21329380	T	G	18	23749416	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996617372600993	0.96
18	21329381	T	A	18	23749417	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0019420761775515	0.2
18	21329381	T	C	18	23749417	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.72888723886849E-4	0.012
18	21329381	T	G	18	23749417	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.62587742290056E-4	0.184
18	21329382	T	A	18	23749418	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.53303876555892E-4	0.162
18	21329382	T	C	18	23749418	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.56225665160262E-4	0.014
18	21329382	T	G	18	23749418	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.4324648538561E-4	0.132
18	21329383	T	A	18	23749419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4881311535668E-4	0.072
18	21329383	T	C	18	23749419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57861584622216E-5	0.088
18	21329383	T	G	18	23749419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.10931762673467E-4	0.086
18	21329384	C	A	18	23749420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.22269301172629E-4	0.044
18	21329384	C	G	18	23749420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.40585279087934E-4	0.138
18	21329384	C	T	18	23749420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6602694648934E-5	0.03
18	21329385	C	A	18	23749421	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.90223775245209E-5	0.038
18	21329385	C	G	18	23749421	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.16037115235944E-4	0.028
18	21329385	C	T	18	23749421	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.63968766339649E-5	0.0
18	21329386	T	A	18	23749422	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0152033726706564	0.276
18	21329386	T	C	18	23749422	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00117559659251716	0.08
18	21329386	T	G	18	23749422	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0192536602302193	0.318
18	21329387	T	A	18	23749423	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.17010460242633E-4	0.084
18	21329387	T	C	18	23749423	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.8319279737493E-5	0.0
18	21329387	T	G	18	23749423	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.48761347771173E-4	0.054
18	21329388	C	A	18	23749424	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.57578019644259E-4	0.076
18	21329388	C	G	18	23749424	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.23819284180642E-4	0.084
18	21329388	C	T	18	23749424	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.26250843267203E-4	0.094
18	21329389	T	A	18	23749425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.112239422137972	0.342
18	21329389	T	C	18	23749425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.0103327704422E-5	0.02
18	21329389	T	G	18	23749425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.978043697072491	0.646
18	21329390	A	C	18	23749426	y	y	splicing	LAMA3(NM_001127717:exon4:c.566-2A>C;NM_198129:exon4:c.566-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.566-2A>C;ENST00000585600:exon4:c.566-2A>C;ENST00000399516:exon4:c.566-2A>C)	.	.	0.999988247793601	0.932
18	21329390	A	G	18	23749426	y	y	splicing	LAMA3(NM_001127717:exon4:c.566-2A>G;NM_198129:exon4:c.566-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.566-2A>G;ENST00000585600:exon4:c.566-2A>G;ENST00000399516:exon4:c.566-2A>G)	.	.	0.999988247793601	0.932
18	21329390	A	T	18	23749426	y	y	splicing	LAMA3(NM_001127717:exon4:c.566-2A>T;NM_198129:exon4:c.566-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.566-2A>T;ENST00000585600:exon4:c.566-2A>T;ENST00000399516:exon4:c.566-2A>T)	.	.	0.999988247793601	0.932
18	21329391	G	A	18	23749427	y	y	splicing	LAMA3(NM_001127717:exon4:c.566-1G>A;NM_198129:exon4:c.566-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.566-1G>A;ENST00000585600:exon4:c.566-1G>A;ENST00000399516:exon4:c.566-1G>A)	.	.	0.999990361384395	0.938
18	21329391	G	C	18	23749427	y	y	splicing	LAMA3(NM_001127717:exon4:c.566-1G>C;NM_198129:exon4:c.566-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.566-1G>C;ENST00000585600:exon4:c.566-1G>C;ENST00000399516:exon4:c.566-1G>C)	.	.	0.999990361384395	0.938
18	21329391	G	T	18	23749427	y	y	splicing	LAMA3(NM_001127717:exon4:c.566-1G>T;NM_198129:exon4:c.566-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.566-1G>T;ENST00000585600:exon4:c.566-1G>T;ENST00000399516:exon4:c.566-1G>T)	.	.	0.999990361384395	0.938
18	21329392	A	C	18	23749428	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.A566C:p.H189P;LAMA3:NM_001127717:exon4:c.A566C:p.H189P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.A566C:p.H189P;ENSG00000053747:ENST00000399516:exon4:c.A566C:p.H189P;ENSG00000053747:ENST00000313654:exon4:c.A566C:p.H189P;	0.0262390185606306	0.2
18	21329392	A	G	18	23749428	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.A566G:p.H189R;LAMA3:NM_001127717:exon4:c.A566G:p.H189R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.A566G:p.H189R;ENSG00000053747:ENST00000399516:exon4:c.A566G:p.H189R;ENSG00000053747:ENST00000313654:exon4:c.A566G:p.H189R;	2.75188842024766E-4	0.0
18	21329392	A	T	18	23749428	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.A566T:p.H189L;LAMA3:NM_001127717:exon4:c.A566T:p.H189L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.A566T:p.H189L;ENSG00000053747:ENST00000399516:exon4:c.A566T:p.H189L;ENSG00000053747:ENST00000313654:exon4:c.A566T:p.H189L;	0.0449371327801426	0.12
18	21329393	T	A	18	23749429	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.T567A:p.H189Q;LAMA3:NM_001127717:exon4:c.T567A:p.H189Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.T567A:p.H189Q;ENSG00000053747:ENST00000399516:exon4:c.T567A:p.H189Q;ENSG00000053747:ENST00000313654:exon4:c.T567A:p.H189Q;	0.00459570095465672	0.156
18	21329393	T	C	18	23749429	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon4:c.T567C:p.H189H;LAMA3:NM_001127717:exon4:c.T567C:p.H189H;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.T567C:p.H189H;ENSG00000053747:ENST00000399516:exon4:c.T567C:p.H189H;ENSG00000053747:ENST00000313654:exon4:c.T567C:p.H189H;	0.00232503561979575	0.138
18	21329393	T	G	18	23749429	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.T567G:p.H189Q;LAMA3:NM_001127717:exon4:c.T567G:p.H189Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.T567G:p.H189Q;ENSG00000053747:ENST00000399516:exon4:c.T567G:p.H189Q;ENSG00000053747:ENST00000313654:exon4:c.T567G:p.H189Q;	0.00247538999448775	0.112
18	21329508	G	A	18	23749544	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.G682A:p.E228K;LAMA3:NM_001127717:exon4:c.G682A:p.E228K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.G682A:p.E228K;ENSG00000053747:ENST00000399516:exon4:c.G682A:p.E228K;ENSG00000053747:ENST00000313654:exon4:c.G682A:p.E228K;	0.97145887165085	0.832
18	21329508	G	C	18	23749544	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.G682C:p.E228Q;LAMA3:NM_001127717:exon4:c.G682C:p.E228Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.G682C:p.E228Q;ENSG00000053747:ENST00000399516:exon4:c.G682C:p.E228Q;ENSG00000053747:ENST00000313654:exon4:c.G682C:p.E228Q;	0.96016315069113	0.766
18	21329508	G	T	18	23749544	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon4:c.G682T:p.E228X;LAMA3:NM_001127717:exon4:c.G682T:p.E228X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000585600:exon4:c.G682T:p.E228X;ENSG00000053747:ENST00000399516:exon4:c.G682T:p.E228X;ENSG00000053747:ENST00000313654:exon4:c.G682T:p.E228X;	0.990674316215252	0.866
18	21329509	A	C	18	23749545	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.A683C:p.E228A;LAMA3:NM_001127717:exon4:c.A683C:p.E228A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.A683C:p.E228A;ENSG00000053747:ENST00000399516:exon4:c.A683C:p.E228A;ENSG00000053747:ENST00000313654:exon4:c.A683C:p.E228A;	0.986902174656672	0.702
18	21329509	A	G	18	23749545	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.A683G:p.E228G;LAMA3:NM_001127717:exon4:c.A683G:p.E228G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.A683G:p.E228G;ENSG00000053747:ENST00000399516:exon4:c.A683G:p.E228G;ENSG00000053747:ENST00000313654:exon4:c.A683G:p.E228G;	0.994495098469402	0.89
18	21329509	A	T	18	23749545	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.A683T:p.E228V;LAMA3:NM_001127717:exon4:c.A683T:p.E228V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.A683T:p.E228V;ENSG00000053747:ENST00000399516:exon4:c.A683T:p.E228V;ENSG00000053747:ENST00000313654:exon4:c.A683T:p.E228V;	0.995097651264952	0.598
18	21329510	G	A	18	23749546	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon4:c.G684A:p.E228E;LAMA3:NM_001127717:exon4:c.G684A:p.E228E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.G684A:p.E228E;ENSG00000053747:ENST00000399516:exon4:c.G684A:p.E228E;ENSG00000053747:ENST00000313654:exon4:c.G684A:p.E228E;	0.999395319190603	0.894
18	21329510	G	C	18	23749546	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.G684C:p.E228D;LAMA3:NM_001127717:exon4:c.G684C:p.E228D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.G684C:p.E228D;ENSG00000053747:ENST00000399516:exon4:c.G684C:p.E228D;ENSG00000053747:ENST00000313654:exon4:c.G684C:p.E228D;	0.99977407571597	0.91
18	21329510	G	T	18	23749546	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon4:c.G684T:p.E228D;LAMA3:NM_001127717:exon4:c.G684T:p.E228D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon4:c.G684T:p.E228D;ENSG00000053747:ENST00000399516:exon4:c.G684T:p.E228D;ENSG00000053747:ENST00000313654:exon4:c.G684T:p.E228D;	0.999583627275826	0.894
18	21329511	G	A	18	23749547	y	y	splicing	LAMA3(NM_001127717:exon4:c.684+1G>A;NM_198129:exon4:c.684+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.684+1G>A;ENST00000585600:exon4:c.684+1G>A;ENST00000399516:exon4:c.684+1G>A)	.	.	0.999990361384395	0.938
18	21329511	G	C	18	23749547	y	y	splicing	LAMA3(NM_001127717:exon4:c.684+1G>C;NM_198129:exon4:c.684+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.684+1G>C;ENST00000585600:exon4:c.684+1G>C;ENST00000399516:exon4:c.684+1G>C)	.	.	0.999990361384395	0.938
18	21329511	G	T	18	23749547	y	y	splicing	LAMA3(NM_001127717:exon4:c.684+1G>T;NM_198129:exon4:c.684+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.684+1G>T;ENST00000585600:exon4:c.684+1G>T;ENST00000399516:exon4:c.684+1G>T)	.	.	0.999990361384395	0.938
18	21329512	T	A	18	23749548	y	y	splicing	LAMA3(NM_001127717:exon4:c.684+2T>A;NM_198129:exon4:c.684+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.684+2T>A;ENST00000585600:exon4:c.684+2T>A;ENST00000399516:exon4:c.684+2T>A)	.	.	0.999988247793601	0.932
18	21329512	T	C	18	23749548	y	y	splicing	LAMA3(NM_001127717:exon4:c.684+2T>C;NM_198129:exon4:c.684+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.684+2T>C;ENST00000585600:exon4:c.684+2T>C;ENST00000399516:exon4:c.684+2T>C)	.	.	0.992783534660112	0.722
18	21329512	T	G	18	23749548	y	y	splicing	LAMA3(NM_001127717:exon4:c.684+2T>G;NM_198129:exon4:c.684+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon4:c.684+2T>G;ENST00000585600:exon4:c.684+2T>G;ENST00000399516:exon4:c.684+2T>G)	.	.	0.999988247793601	0.932
18	21329513	A	C	18	23749549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.50005860697446	0.504
18	21329513	A	G	18	23749549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.17427291329554E-4	0.082
18	21329513	A	T	18	23749549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.421780086153498	0.486
18	21329514	A	C	18	23749550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.314768037448945	0.374
18	21329514	A	G	18	23749550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.32602516559677	0.318
18	21329514	A	T	18	23749550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.171844740296735	0.446
18	21329515	G	A	18	23749551	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.563597767066149	0.47
18	21329515	G	C	18	23749551	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.344716627206444	0.438
18	21329515	G	T	18	23749551	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.594855464691259	0.46
18	21329516	T	A	18	23749552	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00340658323831486	0.214
18	21329516	T	C	18	23749552	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00801896105637048	0.198
18	21329516	T	G	18	23749552	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00138139851736047	0.126
18	21329517	A	C	18	23749553	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.56878239719511E-4	0.006
18	21329517	A	G	18	23749553	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.56878239719511E-4	0.014
18	21329517	A	T	18	23749553	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.87809060625718E-4	0.022
18	21329518	G	A	18	23749554	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.22959446752711E-4	0.006
18	21329518	G	C	18	23749554	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.35341279017553E-4	0.006
18	21329518	G	T	18	23749554	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.22959446752711E-4	0.006
18	21330870	T	A	18	23750906	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999893261448741	0.974
18	21330870	T	C	18	23750906	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00855056885881611	0.15
18	21330870	T	G	18	23750906	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.890419909904854	0.706
18	21330871	G	A	18	23750907	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99923240166926	0.948
18	21330871	G	C	18	23750907	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.63631038690432E-4	0.0
18	21330871	G	T	18	23750907	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.45095389960656E-4	0.054
18	21330872	G	A	18	23750908	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.95441795907488E-4	0.052
18	21330872	G	C	18	23750908	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.00564802132135E-5	0.0
18	21330872	G	T	18	23750908	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.0627336257025E-4	0.004
18	21330873	T	A	18	23750909	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.121766153662921	0.382
18	21330873	T	C	18	23750909	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.27463911821968E-4	0.066
18	21330873	T	G	18	23750909	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00966322355225591	0.25
18	21330874	C	A	18	23750910	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.82131945577255E-4	0.048
18	21330874	C	G	18	23750910	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.92259503703826E-4	0.036
18	21330874	C	T	18	23750910	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.7446894450034E-5	0.0
18	21330875	A	C	18	23750911	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33684777350849E-5	0.0
18	21330875	A	G	18	23750911	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.80419595396651E-5	0.0
18	21330875	A	T	18	23750911	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33684777350849E-5	0.0
18	21330876	T	A	18	23750912	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0012200173902309	0.202
18	21330876	T	C	18	23750912	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.9950044753064E-5	0.034
18	21330876	T	G	18	23750912	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.989463814912624	0.948
18	21330877	T	A	18	23750913	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.883376432806509	0.492
18	21330877	T	C	18	23750913	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0157565266734653	0.194
18	21330877	T	G	18	23750913	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.725752010451991	0.478
18	21330878	T	A	18	23750914	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.13843864579926E-4	0.038
18	21330878	T	C	18	23750914	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.3740873548814E-4	0.012
18	21330878	T	G	18	23750914	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00126666218584915	0.032
18	21330879	T	A	18	23750915	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0295259943884537	0.31
18	21330879	T	C	18	23750915	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.00736511839435E-4	0.008
18	21330879	T	G	18	23750915	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.957401346799393	0.73
18	21330880	A	C	18	23750916	y	y	splicing	LAMA3(NM_001127717:exon5:c.685-2A>C;NM_198129:exon5:c.685-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.685-2A>C;ENST00000585600:exon5:c.685-2A>C;ENST00000399516:exon5:c.685-2A>C)	.	.	0.999988247793601	0.918
18	21330880	A	G	18	23750916	y	y	splicing	LAMA3(NM_001127717:exon5:c.685-2A>G;NM_198129:exon5:c.685-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.685-2A>G;ENST00000585600:exon5:c.685-2A>G;ENST00000399516:exon5:c.685-2A>G)	.	.	0.999988247793601	0.918
18	21330880	A	T	18	23750916	y	y	splicing	LAMA3(NM_001127717:exon5:c.685-2A>T;NM_198129:exon5:c.685-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.685-2A>T;ENST00000585600:exon5:c.685-2A>T;ENST00000399516:exon5:c.685-2A>T)	.	.	0.999988247793601	0.918
18	21330881	G	A	18	23750917	y	y	splicing	LAMA3(NM_001127717:exon5:c.685-1G>A;NM_198129:exon5:c.685-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.685-1G>A;ENST00000585600:exon5:c.685-1G>A;ENST00000399516:exon5:c.685-1G>A)	.	.	0.999993635640679	0.916
18	21330881	G	C	18	23750917	y	y	splicing	LAMA3(NM_001127717:exon5:c.685-1G>C;NM_198129:exon5:c.685-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.685-1G>C;ENST00000585600:exon5:c.685-1G>C;ENST00000399516:exon5:c.685-1G>C)	.	.	0.999993635640679	0.916
18	21330881	G	T	18	23750917	y	y	splicing	LAMA3(NM_001127717:exon5:c.685-1G>T;NM_198129:exon5:c.685-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.685-1G>T;ENST00000585600:exon5:c.685-1G>T;ENST00000399516:exon5:c.685-1G>T)	.	.	0.999993635640679	0.916
18	21330882	G	A	18	23750918	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.G685A:p.V229I;LAMA3:NM_001127717:exon5:c.G685A:p.V229I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G685A:p.V229I;ENSG00000053747:ENST00000399516:exon5:c.G685A:p.V229I;ENSG00000053747:ENST00000313654:exon5:c.G685A:p.V229I;	0.00427340279841599	0.222
18	21330882	G	C	18	23750918	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.G685C:p.V229L;LAMA3:NM_001127717:exon5:c.G685C:p.V229L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G685C:p.V229L;ENSG00000053747:ENST00000399516:exon5:c.G685C:p.V229L;ENSG00000053747:ENST00000313654:exon5:c.G685C:p.V229L;	0.734523760984888	0.672
18	21330882	G	T	18	23750918	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.G685T:p.V229F;LAMA3:NM_001127717:exon5:c.G685T:p.V229F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G685T:p.V229F;ENSG00000053747:ENST00000399516:exon5:c.G685T:p.V229F;ENSG00000053747:ENST00000313654:exon5:c.G685T:p.V229F;	0.996633131628099	0.82
18	21330883	T	A	18	23750919	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.T686A:p.V229D;LAMA3:NM_001127717:exon5:c.T686A:p.V229D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.T686A:p.V229D;ENSG00000053747:ENST00000399516:exon5:c.T686A:p.V229D;ENSG00000053747:ENST00000313654:exon5:c.T686A:p.V229D;	0.813084058790735	0.442
18	21330883	T	C	18	23750919	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.T686C:p.V229A;LAMA3:NM_001127717:exon5:c.T686C:p.V229A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.T686C:p.V229A;ENSG00000053747:ENST00000399516:exon5:c.T686C:p.V229A;ENSG00000053747:ENST00000313654:exon5:c.T686C:p.V229A;	0.775413823155166	0.482
18	21330883	T	G	18	23750919	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.T686G:p.V229G;LAMA3:NM_001127717:exon5:c.T686G:p.V229G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.T686G:p.V229G;ENSG00000053747:ENST00000399516:exon5:c.T686G:p.V229G;ENSG00000053747:ENST00000313654:exon5:c.T686G:p.V229G;	0.801819854398501	0.428
18	21331050	C	A	18	23751086	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon5:c.C853A:p.R285R;LAMA3:NM_001127717:exon5:c.C853A:p.R285R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.C853A:p.R285R;ENSG00000053747:ENST00000399516:exon5:c.C853A:p.R285R;ENSG00000053747:ENST00000313654:exon5:c.C853A:p.R285R;	8.00121270658744E-4	0.048
18	21331050	C	G	18	23751086	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.C853G:p.R285G;LAMA3:NM_001127717:exon5:c.C853G:p.R285G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.C853G:p.R285G;ENSG00000053747:ENST00000399516:exon5:c.C853G:p.R285G;ENSG00000053747:ENST00000313654:exon5:c.C853G:p.R285G;	0.00729907860546835	0.188
18	21331050	C	T	18	23751086	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.C853T:p.R285W;LAMA3:NM_001127717:exon5:c.C853T:p.R285W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.C853T:p.R285W;ENSG00000053747:ENST00000399516:exon5:c.C853T:p.R285W;ENSG00000053747:ENST00000313654:exon5:c.C853T:p.R285W;	0.0413141694427681	0.262
18	21331051	G	A	18	23751087	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.G854A:p.R285Q;LAMA3:NM_001127717:exon5:c.G854A:p.R285Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G854A:p.R285Q;ENSG00000053747:ENST00000399516:exon5:c.G854A:p.R285Q;ENSG00000053747:ENST00000313654:exon5:c.G854A:p.R285Q;	0.949547967704446	0.662
18	21331051	G	C	18	23751087	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.G854C:p.R285P;LAMA3:NM_001127717:exon5:c.G854C:p.R285P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G854C:p.R285P;ENSG00000053747:ENST00000399516:exon5:c.G854C:p.R285P;ENSG00000053747:ENST00000313654:exon5:c.G854C:p.R285P;	0.992303298948464	0.944
18	21331051	G	T	18	23751087	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon5:c.G854T:p.R285L;LAMA3:NM_001127717:exon5:c.G854T:p.R285L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G854T:p.R285L;ENSG00000053747:ENST00000399516:exon5:c.G854T:p.R285L;ENSG00000053747:ENST00000313654:exon5:c.G854T:p.R285L;	0.99332276687877	0.902
18	21331052	G	A	18	23751088	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon5:c.G855A:p.R285R;LAMA3:NM_001127717:exon5:c.G855A:p.R285R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G855A:p.R285R;ENSG00000053747:ENST00000399516:exon5:c.G855A:p.R285R;ENSG00000053747:ENST00000313654:exon5:c.G855A:p.R285R;	0.935077735688561	0.586
18	21331052	G	C	18	23751088	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon5:c.G855C:p.R285R;LAMA3:NM_001127717:exon5:c.G855C:p.R285R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G855C:p.R285R;ENSG00000053747:ENST00000399516:exon5:c.G855C:p.R285R;ENSG00000053747:ENST00000313654:exon5:c.G855C:p.R285R;	0.992098376990601	0.614
18	21331052	G	T	18	23751088	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon5:c.G855T:p.R285R;LAMA3:NM_001127717:exon5:c.G855T:p.R285R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon5:c.G855T:p.R285R;ENSG00000053747:ENST00000399516:exon5:c.G855T:p.R285R;ENSG00000053747:ENST00000313654:exon5:c.G855T:p.R285R;	0.941301997422259	0.702
18	21331053	G	A	18	23751089	y	y	splicing	LAMA3(NM_001127717:exon5:c.855+1G>A;NM_198129:exon5:c.855+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.855+1G>A;ENST00000585600:exon5:c.855+1G>A;ENST00000399516:exon5:c.855+1G>A)	.	.	0.999985532734767	0.936
18	21331053	G	C	18	23751089	y	y	splicing	LAMA3(NM_001127717:exon5:c.855+1G>C;NM_198129:exon5:c.855+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.855+1G>C;ENST00000585600:exon5:c.855+1G>C;ENST00000399516:exon5:c.855+1G>C)	.	.	0.999985532734767	0.936
18	21331053	G	T	18	23751089	y	y	splicing	LAMA3(NM_001127717:exon5:c.855+1G>T;NM_198129:exon5:c.855+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.855+1G>T;ENST00000585600:exon5:c.855+1G>T;ENST00000399516:exon5:c.855+1G>T)	.	.	0.999985532734767	0.936
18	21331054	T	A	18	23751090	y	y	splicing	LAMA3(NM_001127717:exon5:c.855+2T>A;NM_198129:exon5:c.855+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.855+2T>A;ENST00000585600:exon5:c.855+2T>A;ENST00000399516:exon5:c.855+2T>A)	.	.	0.999988247793601	0.928
18	21331054	T	C	18	23751090	y	y	splicing	LAMA3(NM_001127717:exon5:c.855+2T>C;NM_198129:exon5:c.855+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.855+2T>C;ENST00000585600:exon5:c.855+2T>C;ENST00000399516:exon5:c.855+2T>C)	.	.	0.999929727175276	0.868
18	21331054	T	G	18	23751090	y	y	splicing	LAMA3(NM_001127717:exon5:c.855+2T>G;NM_198129:exon5:c.855+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon5:c.855+2T>G;ENST00000585600:exon5:c.855+2T>G;ENST00000399516:exon5:c.855+2T>G)	.	.	0.999988247793601	0.928
18	21331055	G	A	18	23751091	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.97994374756174E-5	0.004
18	21331055	G	C	18	23751091	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.682611671703214	0.654
18	21331055	G	T	18	23751091	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.723805573257575	0.58
18	21331056	A	C	18	23751092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.680331511953804	0.414
18	21331056	A	G	18	23751092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.985796318514622	0.716
18	21331056	A	T	18	23751092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993866467125117	0.804
18	21331057	G	A	18	23751093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999874765428972	0.896
18	21331057	G	C	18	23751093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999940724286051	0.944
18	21331057	G	T	18	23751093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999838676045437	0.914
18	21331058	T	A	18	23751094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.137393596683024	0.492
18	21331058	T	C	18	23751094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.147908000382971	0.49
18	21331058	T	G	18	23751094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0146760415935929	0.188
18	21331059	A	C	18	23751095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.00330650606671E-4	0.002
18	21331059	A	G	18	23751095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.4156885901322E-4	0.008
18	21331059	A	T	18	23751095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.89318564106786E-4	0.034
18	21331060	G	A	18	23751096	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33688105098804E-4	0.006
18	21331060	G	C	18	23751096	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.02443692669421E-4	0.0
18	21331060	G	T	18	23751096	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.50174177608862E-5	0.0
18	21333673	T	A	18	23753709	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00569880048297481	0.198
18	21333673	T	C	18	23753709	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.52916034499595E-4	0.024
18	21333673	T	G	18	23753709	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00249815049639009	0.198
18	21333674	C	A	18	23753710	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0015918402576451	0.088
18	21333674	C	G	18	23753710	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00137199959825248	0.046
18	21333674	C	T	18	23753710	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.28316307171112E-4	0.014
18	21333675	T	A	18	23753711	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999926313263915	0.964
18	21333675	T	C	18	23753711	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.09178111132236E-4	0.038
18	21333675	T	G	18	23753711	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0110372943690982	0.138
18	21333676	G	A	18	23753712	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00141927775243824	0.084
18	21333676	G	C	18	23753712	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.60405884216489E-4	0.022
18	21333676	G	T	18	23753712	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.26949637867438E-4	0.04
18	21333677	T	A	18	23753713	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0250594195550819	0.312
18	21333677	T	C	18	23753713	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.85422290306366E-4	0.008
18	21333677	T	G	18	23753713	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00149793934056331	0.184
18	21333678	T	A	18	23753714	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999230225222498	0.968
18	21333678	T	C	18	23753714	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.2666567335955E-5	0.034
18	21333678	T	G	18	23753714	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0031373783152545	0.09
18	21333679	G	A	18	23753715	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.78178766081582E-5	0.004
18	21333679	G	C	18	23753715	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.35429235387527E-5	0.016
18	21333679	G	T	18	23753715	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.74668863281629E-5	0.038
18	21333680	T	A	18	23753716	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999604309577523	0.91
18	21333680	T	C	18	23753716	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0227543283031385	0.174
18	21333680	T	G	18	23753716	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.180702571891591	0.406
18	21333681	G	A	18	23753717	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.53448256811595E-5	0.0
18	21333681	G	C	18	23753717	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.96401943917562E-5	0.008
18	21333681	G	T	18	23753717	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.40674423626315E-5	0.0
18	21333682	C	A	18	23753718	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.92695501397918	0.572
18	21333682	C	G	18	23753718	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998629542144464	0.646
18	21333682	C	T	18	23753718	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.11287067216201E-4	0.142
18	21333683	A	C	18	23753719	y	y	splicing	LAMA3(NM_001127717:exon6:c.856-2A>C;NM_198129:exon6:c.856-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.856-2A>C;ENST00000585600:exon6:c.856-2A>C;ENST00000399516:exon6:c.856-2A>C)	.	.	0.999986741007567	0.944
18	21333683	A	G	18	23753719	y	y	splicing	LAMA3(NM_001127717:exon6:c.856-2A>G;NM_198129:exon6:c.856-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.856-2A>G;ENST00000585600:exon6:c.856-2A>G;ENST00000399516:exon6:c.856-2A>G)	.	.	0.999986741007567	0.944
18	21333683	A	T	18	23753719	y	y	splicing	LAMA3(NM_001127717:exon6:c.856-2A>T;NM_198129:exon6:c.856-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.856-2A>T;ENST00000585600:exon6:c.856-2A>T;ENST00000399516:exon6:c.856-2A>T)	.	.	0.999986741007567	0.944
18	21333684	G	A	18	23753720	y	y	splicing	LAMA3(NM_001127717:exon6:c.856-1G>A;NM_198129:exon6:c.856-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.856-1G>A;ENST00000585600:exon6:c.856-1G>A;ENST00000399516:exon6:c.856-1G>A)	.	.	0.999983677848485	0.942
18	21333684	G	C	18	23753720	y	y	splicing	LAMA3(NM_001127717:exon6:c.856-1G>C;NM_198129:exon6:c.856-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.856-1G>C;ENST00000585600:exon6:c.856-1G>C;ENST00000399516:exon6:c.856-1G>C)	.	.	0.999983677848485	0.942
18	21333684	G	T	18	23753720	y	y	splicing	LAMA3(NM_001127717:exon6:c.856-1G>T;NM_198129:exon6:c.856-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.856-1G>T;ENST00000585600:exon6:c.856-1G>T;ENST00000399516:exon6:c.856-1G>T)	.	.	0.999983677848485	0.942
18	21333685	T	A	18	23753721	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.T856A:p.Y286N;LAMA3:NM_001127717:exon6:c.T856A:p.Y286N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.T856A:p.Y286N;ENSG00000053747:ENST00000399516:exon6:c.T856A:p.Y286N;ENSG00000053747:ENST00000313654:exon6:c.T856A:p.Y286N;	0.531268816401168	0.562
18	21333685	T	C	18	23753721	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.T856C:p.Y286H;LAMA3:NM_001127717:exon6:c.T856C:p.Y286H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.T856C:p.Y286H;ENSG00000053747:ENST00000399516:exon6:c.T856C:p.Y286H;ENSG00000053747:ENST00000313654:exon6:c.T856C:p.Y286H;	0.752098019414662	0.744
18	21333685	T	G	18	23753721	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.T856G:p.Y286D;LAMA3:NM_001127717:exon6:c.T856G:p.Y286D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.T856G:p.Y286D;ENSG00000053747:ENST00000399516:exon6:c.T856G:p.Y286D;ENSG00000053747:ENST00000313654:exon6:c.T856G:p.Y286D;	0.705793678194294	0.624
18	21333686	A	C	18	23753722	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.A857C:p.Y286S;LAMA3:NM_001127717:exon6:c.A857C:p.Y286S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.A857C:p.Y286S;ENSG00000053747:ENST00000399516:exon6:c.A857C:p.Y286S;ENSG00000053747:ENST00000313654:exon6:c.A857C:p.Y286S;	0.881306139589892	0.832
18	21333686	A	G	18	23753722	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.A857G:p.Y286C;LAMA3:NM_001127717:exon6:c.A857G:p.Y286C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.A857G:p.Y286C;ENSG00000053747:ENST00000399516:exon6:c.A857G:p.Y286C;ENSG00000053747:ENST00000313654:exon6:c.A857G:p.Y286C;	0.885962015301605	0.712
18	21333686	A	T	18	23753722	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.A857T:p.Y286F;LAMA3:NM_001127717:exon6:c.A857T:p.Y286F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.A857T:p.Y286F;ENSG00000053747:ENST00000399516:exon6:c.A857T:p.Y286F;ENSG00000053747:ENST00000313654:exon6:c.A857T:p.Y286F;	0.801235838368982	0.77
18	21333774	A	C	18	23753810	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.A945C:p.K315N;LAMA3:NM_001127717:exon6:c.A945C:p.K315N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.A945C:p.K315N;ENSG00000053747:ENST00000399516:exon6:c.A945C:p.K315N;ENSG00000053747:ENST00000313654:exon6:c.A945C:p.K315N;	6.45350681101471E-5	0.006
18	21333774	A	G	18	23753810	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon6:c.A945G:p.K315K;LAMA3:NM_001127717:exon6:c.A945G:p.K315K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.A945G:p.K315K;ENSG00000053747:ENST00000399516:exon6:c.A945G:p.K315K;ENSG00000053747:ENST00000313654:exon6:c.A945G:p.K315K;	0.00114407677995893	0.03
18	21333774	A	T	18	23753810	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.A945T:p.K315N;LAMA3:NM_001127717:exon6:c.A945T:p.K315N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.A945T:p.K315N;ENSG00000053747:ENST00000399516:exon6:c.A945T:p.K315N;ENSG00000053747:ENST00000313654:exon6:c.A945T:p.K315N;	0.00193769946453049	0.116
18	21333775	C	A	18	23753811	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.C946A:p.L316M;LAMA3:NM_001127717:exon6:c.C946A:p.L316M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.C946A:p.L316M;ENSG00000053747:ENST00000399516:exon6:c.C946A:p.L316M;ENSG00000053747:ENST00000313654:exon6:c.C946A:p.L316M;	2.32508517909008E-4	0.074
18	21333775	C	G	18	23753811	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.C946G:p.L316V;LAMA3:NM_001127717:exon6:c.C946G:p.L316V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.C946G:p.L316V;ENSG00000053747:ENST00000399516:exon6:c.C946G:p.L316V;ENSG00000053747:ENST00000313654:exon6:c.C946G:p.L316V;	1.02874979910392E-4	0.0
18	21333775	C	T	18	23753811	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon6:c.C946T:p.L316L;LAMA3:NM_001127717:exon6:c.C946T:p.L316L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.C946T:p.L316L;ENSG00000053747:ENST00000399516:exon6:c.C946T:p.L316L;ENSG00000053747:ENST00000313654:exon6:c.C946T:p.L316L;	6.26161900944627E-4	0.022
18	21333776	T	A	18	23753812	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.T947A:p.L316Q;LAMA3:NM_001127717:exon6:c.T947A:p.L316Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.T947A:p.L316Q;ENSG00000053747:ENST00000399516:exon6:c.T947A:p.L316Q;ENSG00000053747:ENST00000313654:exon6:c.T947A:p.L316Q;	4.7115200853431E-5	0.0
18	21333776	T	C	18	23753812	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.T947C:p.L316P;LAMA3:NM_001127717:exon6:c.T947C:p.L316P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.T947C:p.L316P;ENSG00000053747:ENST00000399516:exon6:c.T947C:p.L316P;ENSG00000053747:ENST00000313654:exon6:c.T947C:p.L316P;	5.78082219132783E-4	0.246
18	21333776	T	G	18	23753812	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon6:c.T947G:p.L316R;LAMA3:NM_001127717:exon6:c.T947G:p.L316R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon6:c.T947G:p.L316R;ENSG00000053747:ENST00000399516:exon6:c.T947G:p.L316R;ENSG00000053747:ENST00000313654:exon6:c.T947G:p.L316R;	9.9890209710985E-5	0.178
18	21333777	G	A	18	23753813	y	y	splicing	LAMA3(NM_001127717:exon6:c.947+1G>A;NM_198129:exon6:c.947+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.947+1G>A;ENST00000585600:exon6:c.947+1G>A;ENST00000399516:exon6:c.947+1G>A)	.	.	0.999981760802075	0.944
18	21333777	G	C	18	23753813	y	y	splicing	LAMA3(NM_001127717:exon6:c.947+1G>C;NM_198129:exon6:c.947+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.947+1G>C;ENST00000585600:exon6:c.947+1G>C;ENST00000399516:exon6:c.947+1G>C)	.	.	0.999981760802075	0.944
18	21333777	G	T	18	23753813	y	y	splicing	LAMA3(NM_001127717:exon6:c.947+1G>T;NM_198129:exon6:c.947+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.947+1G>T;ENST00000585600:exon6:c.947+1G>T;ENST00000399516:exon6:c.947+1G>T)	.	.	0.999981760802075	0.944
18	21333778	T	A	18	23753814	y	y	splicing	LAMA3(NM_001127717:exon6:c.947+2T>A;NM_198129:exon6:c.947+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.947+2T>A;ENST00000585600:exon6:c.947+2T>A;ENST00000399516:exon6:c.947+2T>A)	.	.	0.999989917668626	0.928
18	21333778	T	C	18	23753814	y	y	splicing	LAMA3(NM_001127717:exon6:c.947+2T>C;NM_198129:exon6:c.947+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.947+2T>C;ENST00000585600:exon6:c.947+2T>C;ENST00000399516:exon6:c.947+2T>C)	.	.	0.993179459523591	0.642
18	21333778	T	G	18	23753814	y	y	splicing	LAMA3(NM_001127717:exon6:c.947+2T>G;NM_198129:exon6:c.947+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon6:c.947+2T>G;ENST00000585600:exon6:c.947+2T>G;ENST00000399516:exon6:c.947+2T>G)	.	.	0.999989917668626	0.928
18	21333779	A	C	18	23753815	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999829511131779	0.924
18	21333779	A	G	18	23753815	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00779753397687875	0.204
18	21333779	A	T	18	23753815	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99962146360771	0.884
18	21333780	A	C	18	23753816	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.763055352080904	0.456
18	21333780	A	G	18	23753816	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.969791685859246	0.762
18	21333780	A	T	18	23753816	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.98155023956972	0.696
18	21333781	G	A	18	23753817	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999951868570235	1.0
18	21333781	G	C	18	23753817	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99974143850095	0.994
18	21333781	G	T	18	23753817	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999951868570235	0.938
18	21333782	T	A	18	23753818	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.973817517833116	0.718
18	21333782	T	C	18	23753818	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.948659322540133	0.844
18	21333782	T	G	18	23753818	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.986348902320446	0.856
18	21333783	A	C	18	23753819	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00101214193093769	0.008
18	21333783	A	G	18	23753819	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.85887617833544E-4	0.012
18	21333783	A	T	18	23753819	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.94480161963992E-4	0.004
18	21333784	C	A	18	23753820	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.87538657549525E-4	0.012
18	21333784	C	G	18	23753820	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.64250208977789E-4	0.058
18	21333784	C	T	18	23753820	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.70474572935874E-4	0.006
18	21338348	C	A	18	23758384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.65370870863047E-4	0.05
18	21338348	C	G	18	23758384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00137466253767796	0.092
18	21338348	C	T	18	23758384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.40859815489832E-5	0.014
18	21338349	C	A	18	23758385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0685738489075317	0.156
18	21338349	C	G	18	23758385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.019376232819366	0.102
18	21338349	C	T	18	23758385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.69831023927462E-5	0.006
18	21338350	A	C	18	23758386	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.54228837736413E-5	0.006
18	21338350	A	G	18	23758386	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.22070297304323E-6	0.0
18	21338350	A	T	18	23758386	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.54228837736413E-5	0.002
18	21338351	C	A	18	23758387	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00581834552200566	0.126
18	21338351	C	G	18	23758387	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999706812595972	0.966
18	21338351	C	T	18	23758387	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.75069802007384E-5	0.014
18	21338352	A	C	18	23758388	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.00684534904205E-5	0.0
18	21338352	A	G	18	23758388	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.24136891108843E-5	0.032
18	21338352	A	T	18	23758388	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.06481237244302E-5	0.02
18	21338353	T	A	18	23758389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99554217648357	0.894
18	21338353	T	C	18	23758389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.15740516613906E-4	0.028
18	21338353	T	G	18	23758389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995197372696342	0.86
18	21338354	G	A	18	23758390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.43706408357356E-5	0.004
18	21338354	G	C	18	23758390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.13206213013284E-5	0.026
18	21338354	G	T	18	23758390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.99272812201705E-5	0.01
18	21338355	C	A	18	23758391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.26372497801676E-4	0.23
18	21338355	C	G	18	23758391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.31689226335184E-4	0.172
18	21338355	C	T	18	23758391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.58418406667549E-5	0.04
18	21338356	C	A	18	23758392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.80464150372489E-5	0.022
18	21338356	C	G	18	23758392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.548307858871E-5	0.156
18	21338356	C	T	18	23758392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.97685822719771E-5	0.014
18	21338357	C	A	18	23758393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994742073100291	0.75
18	21338357	C	G	18	23758393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999803515700361	0.74
18	21338357	C	T	18	23758393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00279120205560646	0.232
18	21338358	A	C	18	23758394	y	y	splicing	LAMA3(NM_001127717:exon7:c.948-2A>C;NM_198129:exon7:c.948-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.948-2A>C;ENST00000585600:exon7:c.948-2A>C;ENST00000399516:exon7:c.948-2A>C)	.	.	0.999984189366233	0.948
18	21338358	A	G	18	23758394	y	y	splicing	LAMA3(NM_001127717:exon7:c.948-2A>G;NM_198129:exon7:c.948-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.948-2A>G;ENST00000585600:exon7:c.948-2A>G;ENST00000399516:exon7:c.948-2A>G)	.	.	0.999983637856784	0.948
18	21338358	A	T	18	23758394	y	y	splicing	LAMA3(NM_001127717:exon7:c.948-2A>T;NM_198129:exon7:c.948-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.948-2A>T;ENST00000585600:exon7:c.948-2A>T;ENST00000399516:exon7:c.948-2A>T)	.	.	0.999984189366233	0.948
18	21338359	G	A	18	23758395	y	y	splicing	LAMA3(NM_001127717:exon7:c.948-1G>A;NM_198129:exon7:c.948-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.948-1G>A;ENST00000585600:exon7:c.948-1G>A;ENST00000399516:exon7:c.948-1G>A)	.	.	0.999928526541542	0.862
18	21338359	G	C	18	23758395	y	y	splicing	LAMA3(NM_001127717:exon7:c.948-1G>C;NM_198129:exon7:c.948-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.948-1G>C;ENST00000585600:exon7:c.948-1G>C;ENST00000399516:exon7:c.948-1G>C)	.	.	0.999928526541542	0.868
18	21338359	G	T	18	23758395	y	y	splicing	LAMA3(NM_001127717:exon7:c.948-1G>T;NM_198129:exon7:c.948-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.948-1G>T;ENST00000585600:exon7:c.948-1G>T;ENST00000399516:exon7:c.948-1G>T)	.	.	0.999928526541542	0.87
18	21338360	G	A	18	23758396	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon7:c.G948A:p.L316L;LAMA3:NM_001127717:exon7:c.G948A:p.L316L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.G948A:p.L316L;ENSG00000053747:ENST00000399516:exon7:c.G948A:p.L316L;ENSG00000053747:ENST00000313654:exon7:c.G948A:p.L316L;	0.00657995462041266	0.158
18	21338360	G	C	18	23758396	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon7:c.G948C:p.L316L;LAMA3:NM_001127717:exon7:c.G948C:p.L316L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.G948C:p.L316L;ENSG00000053747:ENST00000399516:exon7:c.G948C:p.L316L;ENSG00000053747:ENST00000313654:exon7:c.G948C:p.L316L;	0.244302536617617	0.552
18	21338360	G	T	18	23758396	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon7:c.G948T:p.L316L;LAMA3:NM_001127717:exon7:c.G948T:p.L316L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.G948T:p.L316L;ENSG00000053747:ENST00000399516:exon7:c.G948T:p.L316L;ENSG00000053747:ENST00000313654:exon7:c.G948T:p.L316L;	0.355270089610237	0.514
18	21338361	T	A	18	23758397	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.T949A:p.F317I;LAMA3:NM_001127717:exon7:c.T949A:p.F317I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.T949A:p.F317I;ENSG00000053747:ENST00000399516:exon7:c.T949A:p.F317I;ENSG00000053747:ENST00000313654:exon7:c.T949A:p.F317I;	9.86187933157878E-4	0.11
18	21338361	T	C	18	23758397	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.T949C:p.F317L;LAMA3:NM_001127717:exon7:c.T949C:p.F317L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.T949C:p.F317L;ENSG00000053747:ENST00000399516:exon7:c.T949C:p.F317L;ENSG00000053747:ENST00000313654:exon7:c.T949C:p.F317L;	7.62063900753786E-4	0.106
18	21338361	T	G	18	23758397	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.T949G:p.F317V;LAMA3:NM_001127717:exon7:c.T949G:p.F317V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.T949G:p.F317V;ENSG00000053747:ENST00000399516:exon7:c.T949G:p.F317V;ENSG00000053747:ENST00000313654:exon7:c.T949G:p.F317V;	0.00149902299122336	0.142
18	21338473	A	C	18	23758509	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.A1061C:p.E354A;LAMA3:NM_001127717:exon7:c.A1061C:p.E354A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.A1061C:p.E354A;ENSG00000053747:ENST00000399516:exon7:c.A1061C:p.E354A;ENSG00000053747:ENST00000313654:exon7:c.A1061C:p.E354A;	0.527231467837322	0.566
18	21338473	A	G	18	23758509	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.A1061G:p.E354G;LAMA3:NM_001127717:exon7:c.A1061G:p.E354G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.A1061G:p.E354G;ENSG00000053747:ENST00000399516:exon7:c.A1061G:p.E354G;ENSG00000053747:ENST00000313654:exon7:c.A1061G:p.E354G;	0.176308675519914	0.48
18	21338473	A	T	18	23758509	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.A1061T:p.E354V;LAMA3:NM_001127717:exon7:c.A1061T:p.E354V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.A1061T:p.E354V;ENSG00000053747:ENST00000399516:exon7:c.A1061T:p.E354V;ENSG00000053747:ENST00000313654:exon7:c.A1061T:p.E354V;	0.989383138185	0.728
18	21338474	A	C	18	23758510	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.A1062C:p.E354D;LAMA3:NM_001127717:exon7:c.A1062C:p.E354D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.A1062C:p.E354D;ENSG00000053747:ENST00000399516:exon7:c.A1062C:p.E354D;ENSG00000053747:ENST00000313654:exon7:c.A1062C:p.E354D;	0.990516035745672	0.82
18	21338474	A	G	18	23758510	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon7:c.A1062G:p.E354E;LAMA3:NM_001127717:exon7:c.A1062G:p.E354E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.A1062G:p.E354E;ENSG00000053747:ENST00000399516:exon7:c.A1062G:p.E354E;ENSG00000053747:ENST00000313654:exon7:c.A1062G:p.E354E;	0.965178716236626	0.716
18	21338474	A	T	18	23758510	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.A1062T:p.E354D;LAMA3:NM_001127717:exon7:c.A1062T:p.E354D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.A1062T:p.E354D;ENSG00000053747:ENST00000399516:exon7:c.A1062T:p.E354D;ENSG00000053747:ENST00000313654:exon7:c.A1062T:p.E354D;	0.998799597980263	0.918
18	21338475	G	A	18	23758511	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.G1063A:p.A355T;LAMA3:NM_001127717:exon7:c.G1063A:p.A355T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.G1063A:p.A355T;ENSG00000053747:ENST00000399516:exon7:c.G1063A:p.A355T;ENSG00000053747:ENST00000313654:exon7:c.G1063A:p.A355T;	0.99952267881551	0.998
18	21338475	G	C	18	23758511	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.G1063C:p.A355P;LAMA3:NM_001127717:exon7:c.G1063C:p.A355P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.G1063C:p.A355P;ENSG00000053747:ENST00000399516:exon7:c.G1063C:p.A355P;ENSG00000053747:ENST00000313654:exon7:c.G1063C:p.A355P;	0.999980659681743	0.908
18	21338475	G	T	18	23758511	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon7:c.G1063T:p.A355S;LAMA3:NM_001127717:exon7:c.G1063T:p.A355S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon7:c.G1063T:p.A355S;ENSG00000053747:ENST00000399516:exon7:c.G1063T:p.A355S;ENSG00000053747:ENST00000313654:exon7:c.G1063T:p.A355S;	0.999673300015262	0.996
18	21338476	G	A	18	23758512	y	y	splicing	LAMA3(NM_001127717:exon7:c.1063+1G>A;NM_198129:exon7:c.1063+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.1063+1G>A;ENST00000585600:exon7:c.1063+1G>A;ENST00000399516:exon7:c.1063+1G>A)	.	.	0.999981760802075	0.942
18	21338476	G	C	18	23758512	y	y	splicing	LAMA3(NM_001127717:exon7:c.1063+1G>C;NM_198129:exon7:c.1063+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.1063+1G>C;ENST00000585600:exon7:c.1063+1G>C;ENST00000399516:exon7:c.1063+1G>C)	.	.	0.999981760802075	0.942
18	21338476	G	T	18	23758512	y	y	splicing	LAMA3(NM_001127717:exon7:c.1063+1G>T;NM_198129:exon7:c.1063+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.1063+1G>T;ENST00000585600:exon7:c.1063+1G>T;ENST00000399516:exon7:c.1063+1G>T)	.	.	0.999981760802075	0.942
18	21338477	T	A	18	23758513	y	y	splicing	LAMA3(NM_001127717:exon7:c.1063+2T>A;NM_198129:exon7:c.1063+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.1063+2T>A;ENST00000585600:exon7:c.1063+2T>A;ENST00000399516:exon7:c.1063+2T>A)	.	.	0.999989917668626	0.928
18	21338477	T	C	18	23758513	y	y	splicing	LAMA3(NM_001127717:exon7:c.1063+2T>C;NM_198129:exon7:c.1063+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.1063+2T>C;ENST00000585600:exon7:c.1063+2T>C;ENST00000399516:exon7:c.1063+2T>C)	.	.	0.999939711763648	0.868
18	21338477	T	G	18	23758513	y	y	splicing	LAMA3(NM_001127717:exon7:c.1063+2T>G;NM_198129:exon7:c.1063+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon7:c.1063+2T>G;ENST00000585600:exon7:c.1063+2T>G;ENST00000399516:exon7:c.1063+2T>G)	.	.	0.999989917668626	0.928
18	21338478	G	A	18	23758514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.59848919372567E-4	0.074
18	21338478	G	C	18	23758514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.764509959582247	0.578
18	21338478	G	T	18	23758514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0658747918093893	0.484
18	21338479	G	A	18	23758515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.07223831327515E-4	0.104
18	21338479	G	C	18	23758515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.17615490382503E-4	0.116
18	21338479	G	T	18	23758515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00308884600647198	0.116
18	21338480	G	A	18	23758516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995636775955646	0.928
18	21338480	G	C	18	23758516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999862797543761	0.942
18	21338480	G	T	18	23758516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999505622279497	0.904
18	21338481	T	A	18	23758517	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0453878609111832	0.4
18	21338481	T	C	18	23758517	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0786521413892399	0.332
18	21338481	T	G	18	23758517	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0447642386500457	0.382
18	21338482	G	A	18	23758518	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.92461885591287E-5	0.0
18	21338482	G	C	18	23758518	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.18532980404799E-5	0.0
18	21338482	G	T	18	23758518	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.19264867212715E-4	0.0
18	21338483	T	A	18	23758519	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.3200200820218E-5	0.0
18	21338483	T	C	18	23758519	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.28509288876342E-5	0.0
18	21338483	T	G	18	23758519	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4111746353387E-4	0.0
18	21343357	C	A	18	23763393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.50817597108557E-4	0.006
18	21343357	C	G	18	23763393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.38085746293772E-4	0.002
18	21343357	C	T	18	23763393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.01227144417503E-5	0.0
18	21343358	T	A	18	23763394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00202981491742007	0.16
18	21343358	T	C	18	23763394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.47382112645558E-4	0.05
18	21343358	T	G	18	23763394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.89814110834996E-4	0.16
18	21343359	T	A	18	23763395	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.46273852467332E-4	0.22
18	21343359	T	C	18	23763395	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.89986718489333E-5	0.082
18	21343359	T	G	18	23763395	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.71900952866082E-4	0.196
18	21343360	T	A	18	23763396	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00320747558779558	0.11
18	21343360	T	C	18	23763396	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.23428606965058E-5	0.01
18	21343360	T	G	18	23763396	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0044750301904807	0.12
18	21343361	T	A	18	23763397	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.15793320463876E-4	0.054
18	21343361	T	C	18	23763397	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.97452194608987E-5	0.018
18	21343361	T	G	18	23763397	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.90092711152343E-4	0.056
18	21343362	T	A	18	23763398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.27976423233806E-4	0.014
18	21343362	T	C	18	23763398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.74809974396991E-5	0.0
18	21343362	T	G	18	23763398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.22555124439376E-5	0.016
18	21343363	T	A	18	23763399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00882181707621451	0.09
18	21343363	T	C	18	23763399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.41662412894424E-4	0.004
18	21343363	T	G	18	23763399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00621515929646339	0.112
18	21343364	T	A	18	23763400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00598006661051356	0.232
18	21343364	T	C	18	23763400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.40941372107365E-4	0.068
18	21343364	T	G	18	23763400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.123140892409069	0.306
18	21343365	T	A	18	23763401	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.27642374303582E-5	0.0
18	21343365	T	C	18	23763401	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.26451918103854E-5	0.01
18	21343365	T	G	18	23763401	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.61996082422776E-4	0.0
18	21343366	C	A	18	23763402	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.208139582431246	0.378
18	21343366	C	G	18	23763402	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.969327501462862	0.94
18	21343366	C	T	18	23763402	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0163399016961775	0.108
18	21343367	A	C	18	23763403	y	y	splicing	LAMA3(NM_001127717:exon8:c.1064-2A>C;NM_198129:exon8:c.1064-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1064-2A>C;ENST00000585600:exon8:c.1064-2A>C;ENST00000399516:exon8:c.1064-2A>C)	.	.	0.999988247793601	0.93
18	21343367	A	G	18	23763403	y	y	splicing	LAMA3(NM_001127717:exon8:c.1064-2A>G;NM_198129:exon8:c.1064-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1064-2A>G;ENST00000585600:exon8:c.1064-2A>G;ENST00000399516:exon8:c.1064-2A>G)	.	.	0.999988247793601	0.93
18	21343367	A	T	18	23763403	y	y	splicing	LAMA3(NM_001127717:exon8:c.1064-2A>T;NM_198129:exon8:c.1064-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1064-2A>T;ENST00000585600:exon8:c.1064-2A>T;ENST00000399516:exon8:c.1064-2A>T)	.	.	0.999988247793601	0.93
18	21343368	G	A	18	23763404	y	y	splicing	LAMA3(NM_001127717:exon8:c.1064-1G>A;NM_198129:exon8:c.1064-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1064-1G>A;ENST00000585600:exon8:c.1064-1G>A;ENST00000399516:exon8:c.1064-1G>A)	.	.	0.999990361384395	0.938
18	21343368	G	C	18	23763404	y	y	splicing	LAMA3(NM_001127717:exon8:c.1064-1G>C;NM_198129:exon8:c.1064-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1064-1G>C;ENST00000585600:exon8:c.1064-1G>C;ENST00000399516:exon8:c.1064-1G>C)	.	.	0.999990361384395	0.938
18	21343368	G	T	18	23763404	y	y	splicing	LAMA3(NM_001127717:exon8:c.1064-1G>T;NM_198129:exon8:c.1064-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1064-1G>T;ENST00000585600:exon8:c.1064-1G>T;ENST00000399516:exon8:c.1064-1G>T)	.	.	0.999990361384395	0.938
18	21343369	C	A	18	23763405	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.C1064A:p.A355E;LAMA3:NM_001127717:exon8:c.C1064A:p.A355E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.C1064A:p.A355E;ENSG00000053747:ENST00000399516:exon8:c.C1064A:p.A355E;ENSG00000053747:ENST00000313654:exon8:c.C1064A:p.A355E;	0.974424824597288	0.84
18	21343369	C	G	18	23763405	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.C1064G:p.A355G;LAMA3:NM_001127717:exon8:c.C1064G:p.A355G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.C1064G:p.A355G;ENSG00000053747:ENST00000399516:exon8:c.C1064G:p.A355G;ENSG00000053747:ENST00000313654:exon8:c.C1064G:p.A355G;	0.975531769689277	0.734
18	21343369	C	T	18	23763405	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.C1064T:p.A355V;LAMA3:NM_001127717:exon8:c.C1064T:p.A355V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.C1064T:p.A355V;ENSG00000053747:ENST00000399516:exon8:c.C1064T:p.A355V;ENSG00000053747:ENST00000313654:exon8:c.C1064T:p.A355V;	0.996553766609063	0.916
18	21343370	A	C	18	23763406	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon8:c.A1065C:p.A355A;LAMA3:NM_001127717:exon8:c.A1065C:p.A355A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.A1065C:p.A355A;ENSG00000053747:ENST00000399516:exon8:c.A1065C:p.A355A;ENSG00000053747:ENST00000313654:exon8:c.A1065C:p.A355A;	7.09222322650217E-4	0.014
18	21343370	A	G	18	23763406	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon8:c.A1065G:p.A355A;LAMA3:NM_001127717:exon8:c.A1065G:p.A355A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.A1065G:p.A355A;ENSG00000053747:ENST00000399516:exon8:c.A1065G:p.A355A;ENSG00000053747:ENST00000313654:exon8:c.A1065G:p.A355A;	2.37348597730671E-4	0.022
18	21343370	A	T	18	23763406	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon8:c.A1065T:p.A355A;LAMA3:NM_001127717:exon8:c.A1065T:p.A355A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.A1065T:p.A355A;ENSG00000053747:ENST00000399516:exon8:c.A1065T:p.A355A;ENSG00000053747:ENST00000313654:exon8:c.A1065T:p.A355A;	2.70049918182401E-5	0.004
18	21343485	C	A	18	23763521	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.C1180A:p.Q394K;LAMA3:NM_001127717:exon8:c.C1180A:p.Q394K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.C1180A:p.Q394K;ENSG00000053747:ENST00000399516:exon8:c.C1180A:p.Q394K;ENSG00000053747:ENST00000313654:exon8:c.C1180A:p.Q394K;	0.00508559642311097	0.16
18	21343485	C	G	18	23763521	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.C1180G:p.Q394E;LAMA3:NM_001127717:exon8:c.C1180G:p.Q394E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.C1180G:p.Q394E;ENSG00000053747:ENST00000399516:exon8:c.C1180G:p.Q394E;ENSG00000053747:ENST00000313654:exon8:c.C1180G:p.Q394E;	0.00132710067955966	0.156
18	21343485	C	T	18	23763521	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon8:c.C1180T:p.Q394X;LAMA3:NM_001127717:exon8:c.C1180T:p.Q394X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000585600:exon8:c.C1180T:p.Q394X;ENSG00000053747:ENST00000399516:exon8:c.C1180T:p.Q394X;ENSG00000053747:ENST00000313654:exon8:c.C1180T:p.Q394X;	0.181081099579225	0.524
18	21343486	A	C	18	23763522	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.A1181C:p.Q394P;LAMA3:NM_001127717:exon8:c.A1181C:p.Q394P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.A1181C:p.Q394P;ENSG00000053747:ENST00000399516:exon8:c.A1181C:p.Q394P;ENSG00000053747:ENST00000313654:exon8:c.A1181C:p.Q394P;	0.994151849891132	0.946
18	21343486	A	G	18	23763522	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.A1181G:p.Q394R;LAMA3:NM_001127717:exon8:c.A1181G:p.Q394R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.A1181G:p.Q394R;ENSG00000053747:ENST00000399516:exon8:c.A1181G:p.Q394R;ENSG00000053747:ENST00000313654:exon8:c.A1181G:p.Q394R;	0.999486656727067	0.976
18	21343486	A	T	18	23763522	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.A1181T:p.Q394L;LAMA3:NM_001127717:exon8:c.A1181T:p.Q394L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.A1181T:p.Q394L;ENSG00000053747:ENST00000399516:exon8:c.A1181T:p.Q394L;ENSG00000053747:ENST00000313654:exon8:c.A1181T:p.Q394L;	0.999462507901597	0.97
18	21343487	G	A	18	23763523	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon8:c.G1182A:p.Q394Q;LAMA3:NM_001127717:exon8:c.G1182A:p.Q394Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.G1182A:p.Q394Q;ENSG00000053747:ENST00000399516:exon8:c.G1182A:p.Q394Q;ENSG00000053747:ENST00000313654:exon8:c.G1182A:p.Q394Q;	0.999973491751444	0.976
18	21343487	G	C	18	23763523	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.G1182C:p.Q394H;LAMA3:NM_001127717:exon8:c.G1182C:p.Q394H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.G1182C:p.Q394H;ENSG00000053747:ENST00000399516:exon8:c.G1182C:p.Q394H;ENSG00000053747:ENST00000313654:exon8:c.G1182C:p.Q394H;	0.999996241550158	1.0
18	21343487	G	T	18	23763523	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon8:c.G1182T:p.Q394H;LAMA3:NM_001127717:exon8:c.G1182T:p.Q394H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon8:c.G1182T:p.Q394H;ENSG00000053747:ENST00000399516:exon8:c.G1182T:p.Q394H;ENSG00000053747:ENST00000313654:exon8:c.G1182T:p.Q394H;	0.999985007705141	0.998
18	21343488	G	A	18	23763524	y	y	splicing	LAMA3(NM_001127717:exon8:c.1182+1G>A;NM_198129:exon8:c.1182+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1182+1G>A;ENST00000585600:exon8:c.1182+1G>A;ENST00000399516:exon8:c.1182+1G>A)	.	.	0.999990361384395	0.938
18	21343488	G	C	18	23763524	y	y	splicing	LAMA3(NM_001127717:exon8:c.1182+1G>C;NM_198129:exon8:c.1182+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1182+1G>C;ENST00000585600:exon8:c.1182+1G>C;ENST00000399516:exon8:c.1182+1G>C)	.	.	0.999990361384395	0.938
18	21343488	G	T	18	23763524	y	y	splicing	LAMA3(NM_001127717:exon8:c.1182+1G>T;NM_198129:exon8:c.1182+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1182+1G>T;ENST00000585600:exon8:c.1182+1G>T;ENST00000399516:exon8:c.1182+1G>T)	.	.	0.999990361384395	0.938
18	21343489	T	A	18	23763525	y	y	splicing	LAMA3(NM_001127717:exon8:c.1182+2T>A;NM_198129:exon8:c.1182+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1182+2T>A;ENST00000585600:exon8:c.1182+2T>A;ENST00000399516:exon8:c.1182+2T>A)	.	.	0.999988247793601	0.93
18	21343489	T	C	18	23763525	y	y	splicing	LAMA3(NM_001127717:exon8:c.1182+2T>C;NM_198129:exon8:c.1182+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1182+2T>C;ENST00000585600:exon8:c.1182+2T>C;ENST00000399516:exon8:c.1182+2T>C)	.	.	0.999929727175276	0.868
18	21343489	T	G	18	23763525	y	y	splicing	LAMA3(NM_001127717:exon8:c.1182+2T>G;NM_198129:exon8:c.1182+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon8:c.1182+2T>G;ENST00000585600:exon8:c.1182+2T>G;ENST00000399516:exon8:c.1182+2T>G)	.	.	0.999988247793601	0.93
18	21343490	G	A	18	23763526	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.5616296829021E-5	0.0
18	21343490	G	C	18	23763526	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.161986145912292	0.482
18	21343490	G	T	18	23763526	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.591273685661374	0.442
18	21343491	A	C	18	23763527	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.988789413318087	0.71
18	21343491	A	G	18	23763527	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996293049047456	0.878
18	21343491	A	T	18	23763527	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998456100133344	0.866
18	21343492	G	A	18	23763528	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998741913588042	0.868
18	21343492	G	C	18	23763528	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996402270487916	0.778
18	21343492	G	T	18	23763528	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999890258656018	0.886
18	21343493	G	A	18	23763529	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.08622062031065E-4	0.008
18	21343493	G	C	18	23763529	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.96080182927482E-4	0.022
18	21343493	G	T	18	23763529	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.04322316459348E-5	0.002
18	21343494	C	A	18	23763530	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.3319957955843E-4	0.006
18	21343494	C	G	18	23763530	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.68920486570267E-5	0.004
18	21343494	C	T	18	23763530	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.5731239135898E-4	0.012
18	21343495	A	C	18	23763531	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.54648605591334E-4	0.01
18	21343495	A	G	18	23763531	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.77898102825547E-5	0.004
18	21343495	A	T	18	23763531	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.91848111353002E-5	0.004
18	21353449	G	A	18	23773485	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.1617044469125E-4	0.062
18	21353449	G	C	18	23773485	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.28304078658845E-5	0.038
18	21353449	G	T	18	23773485	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.0829012533956E-4	0.086
18	21353450	T	A	18	23773486	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.820084767593475	0.682
18	21353450	T	C	18	23773486	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.584730033547485	0.55
18	21353450	T	G	18	23773486	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.842182212932292	0.66
18	21353451	T	A	18	23773487	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0193298448201233	0.208
18	21353451	T	C	18	23773487	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0027311382496995	0.11
18	21353451	T	G	18	23773487	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00644383769831415	0.186
18	21353452	T	A	18	23773488	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0186742703844235	0.24
18	21353452	T	C	18	23773488	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00332138149384201	0.118
18	21353452	T	G	18	23773488	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0188329739792165	0.208
18	21353453	C	A	18	23773489	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00678644716713131	0.068
18	21353453	C	G	18	23773489	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00101857626398794	0.032
18	21353453	C	T	18	23773489	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.58905115429919E-4	0.0
18	21353454	T	A	18	23773490	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00100969546037772	0.08
18	21353454	T	C	18	23773490	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.03580668954046E-4	0.022
18	21353454	T	G	18	23773490	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.01942986560836E-4	0.07
18	21353455	T	A	18	23773491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00495247929751667	0.15
18	21353455	T	C	18	23773491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.61535587028106E-4	0.026
18	21353455	T	G	18	23773491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0100433026610379	0.19
18	21353456	T	A	18	23773492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00162591637610685	0.102
18	21353456	T	C	18	23773492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.86976882530895E-4	0.044
18	21353456	T	G	18	23773492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00267614666073235	0.134
18	21353457	C	A	18	23773493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.9235913795296E-4	0.038
18	21353457	C	G	18	23773493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.62958563431134E-4	0.0
18	21353457	C	T	18	23773493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.66807638535097E-5	0.0
18	21353458	T	A	18	23773494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0046005311918956	0.168
18	21353458	T	C	18	23773494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00782293719545E-4	0.012
18	21353458	T	G	18	23773494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.714789742355935	0.558
18	21353459	A	C	18	23773495	y	y	splicing	LAMA3(NM_001127717:exon9:c.1183-2A>C;NM_198129:exon9:c.1183-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1183-2A>C;ENST00000585600:exon9:c.1183-2A>C;ENST00000399516:exon9:c.1183-2A>C)	.	.	0.999988247793601	0.93
18	21353459	A	G	18	23773495	y	y	splicing	LAMA3(NM_001127717:exon9:c.1183-2A>G;NM_198129:exon9:c.1183-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1183-2A>G;ENST00000585600:exon9:c.1183-2A>G;ENST00000399516:exon9:c.1183-2A>G)	.	.	0.999988247793601	0.93
18	21353459	A	T	18	23773495	y	y	splicing	LAMA3(NM_001127717:exon9:c.1183-2A>T;NM_198129:exon9:c.1183-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1183-2A>T;ENST00000585600:exon9:c.1183-2A>T;ENST00000399516:exon9:c.1183-2A>T)	.	.	0.999988247793601	0.93
18	21353460	G	A	18	23773496	y	y	splicing	LAMA3(NM_001127717:exon9:c.1183-1G>A;NM_198129:exon9:c.1183-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1183-1G>A;ENST00000585600:exon9:c.1183-1G>A;ENST00000399516:exon9:c.1183-1G>A)	.	.	0.999990361384395	0.938
18	21353460	G	C	18	23773496	y	y	splicing	LAMA3(NM_001127717:exon9:c.1183-1G>C;NM_198129:exon9:c.1183-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1183-1G>C;ENST00000585600:exon9:c.1183-1G>C;ENST00000399516:exon9:c.1183-1G>C)	.	.	0.999990361384395	0.938
18	21353460	G	T	18	23773496	y	y	splicing	LAMA3(NM_001127717:exon9:c.1183-1G>T;NM_198129:exon9:c.1183-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1183-1G>T;ENST00000585600:exon9:c.1183-1G>T;ENST00000399516:exon9:c.1183-1G>T)	.	.	0.999990361384395	0.938
18	21353461	C	A	18	23773497	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.C1183A:p.H395N;LAMA3:NM_001127717:exon9:c.C1183A:p.H395N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1183A:p.H395N;ENSG00000053747:ENST00000399516:exon9:c.C1183A:p.H395N;ENSG00000053747:ENST00000313654:exon9:c.C1183A:p.H395N;	0.971538625989729	0.834
18	21353461	C	G	18	23773497	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.C1183G:p.H395D;LAMA3:NM_001127717:exon9:c.C1183G:p.H395D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1183G:p.H395D;ENSG00000053747:ENST00000399516:exon9:c.C1183G:p.H395D;ENSG00000053747:ENST00000313654:exon9:c.C1183G:p.H395D;	0.9697384716278	0.762
18	21353461	C	T	18	23773497	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.C1183T:p.H395Y;LAMA3:NM_001127717:exon9:c.C1183T:p.H395Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1183T:p.H395Y;ENSG00000053747:ENST00000399516:exon9:c.C1183T:p.H395Y;ENSG00000053747:ENST00000313654:exon9:c.C1183T:p.H395Y;	0.989946674334497	0.892
18	21353462	A	C	18	23773498	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.A1184C:p.H395P;LAMA3:NM_001127717:exon9:c.A1184C:p.H395P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.A1184C:p.H395P;ENSG00000053747:ENST00000399516:exon9:c.A1184C:p.H395P;ENSG00000053747:ENST00000313654:exon9:c.A1184C:p.H395P;	0.923622719480822	0.864
18	21353462	A	G	18	23773498	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.A1184G:p.H395R;LAMA3:NM_001127717:exon9:c.A1184G:p.H395R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.A1184G:p.H395R;ENSG00000053747:ENST00000399516:exon9:c.A1184G:p.H395R;ENSG00000053747:ENST00000313654:exon9:c.A1184G:p.H395R;	0.920005699972606	0.698
18	21353462	A	T	18	23773498	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.A1184T:p.H395L;LAMA3:NM_001127717:exon9:c.A1184T:p.H395L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.A1184T:p.H395L;ENSG00000053747:ENST00000399516:exon9:c.A1184T:p.H395L;ENSG00000053747:ENST00000313654:exon9:c.A1184T:p.H395L;	0.868666599350842	0.826
18	21353549	T	A	18	23773585	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.T1271A:p.I424N;LAMA3:NM_001127717:exon9:c.T1271A:p.I424N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.T1271A:p.I424N;ENSG00000053747:ENST00000399516:exon9:c.T1271A:p.I424N;ENSG00000053747:ENST00000313654:exon9:c.T1271A:p.I424N;	0.0012778862574775	0.102
18	21353549	T	C	18	23773585	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.T1271C:p.I424T;LAMA3:NM_001127717:exon9:c.T1271C:p.I424T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.T1271C:p.I424T;ENSG00000053747:ENST00000399516:exon9:c.T1271C:p.I424T;ENSG00000053747:ENST00000313654:exon9:c.T1271C:p.I424T;	2.43751446654364E-4	0.026
18	21353549	T	G	18	23773585	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.T1271G:p.I424S;LAMA3:NM_001127717:exon9:c.T1271G:p.I424S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.T1271G:p.I424S;ENSG00000053747:ENST00000399516:exon9:c.T1271G:p.I424S;ENSG00000053747:ENST00000313654:exon9:c.T1271G:p.I424S;	1.57711133126408E-4	0.024
18	21353550	C	A	18	23773586	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon9:c.C1272A:p.I424I;LAMA3:NM_001127717:exon9:c.C1272A:p.I424I;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1272A:p.I424I;ENSG00000053747:ENST00000399516:exon9:c.C1272A:p.I424I;ENSG00000053747:ENST00000313654:exon9:c.C1272A:p.I424I;	6.368480084751E-4	0.064
18	21353550	C	G	18	23773586	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.C1272G:p.I424M;LAMA3:NM_001127717:exon9:c.C1272G:p.I424M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1272G:p.I424M;ENSG00000053747:ENST00000399516:exon9:c.C1272G:p.I424M;ENSG00000053747:ENST00000313654:exon9:c.C1272G:p.I424M;	4.87362843851336E-4	0.034
18	21353550	C	T	18	23773586	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon9:c.C1272T:p.I424I;LAMA3:NM_001127717:exon9:c.C1272T:p.I424I;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1272T:p.I424I;ENSG00000053747:ENST00000399516:exon9:c.C1272T:p.I424I;ENSG00000053747:ENST00000313654:exon9:c.C1272T:p.I424I;	8.05395847229461E-4	0.026
18	21353551	C	A	18	23773587	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.C1273A:p.P425T;LAMA3:NM_001127717:exon9:c.C1273A:p.P425T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1273A:p.P425T;ENSG00000053747:ENST00000399516:exon9:c.C1273A:p.P425T;ENSG00000053747:ENST00000313654:exon9:c.C1273A:p.P425T;	0.9793447516599	0.79
18	21353551	C	G	18	23773587	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.C1273G:p.P425A;LAMA3:NM_001127717:exon9:c.C1273G:p.P425A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1273G:p.P425A;ENSG00000053747:ENST00000399516:exon9:c.C1273G:p.P425A;ENSG00000053747:ENST00000313654:exon9:c.C1273G:p.P425A;	0.871799097892266	0.502
18	21353551	C	T	18	23773587	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon9:c.C1273T:p.P425S;LAMA3:NM_001127717:exon9:c.C1273T:p.P425S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon9:c.C1273T:p.P425S;ENSG00000053747:ENST00000399516:exon9:c.C1273T:p.P425S;ENSG00000053747:ENST00000313654:exon9:c.C1273T:p.P425S;	0.992995413016265	0.81
18	21353552	G	A	18	23773588	y	y	splicing	LAMA3(NM_001127717:exon9:c.1273+1G>A;NM_198129:exon9:c.1273+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1273+1G>A;ENST00000585600:exon9:c.1273+1G>A;ENST00000399516:exon9:c.1273+1G>A)	.	.	0.999990361384395	0.938
18	21353552	G	C	18	23773588	y	y	splicing	LAMA3(NM_001127717:exon9:c.1273+1G>C;NM_198129:exon9:c.1273+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1273+1G>C;ENST00000585600:exon9:c.1273+1G>C;ENST00000399516:exon9:c.1273+1G>C)	.	.	0.999990361384395	0.938
18	21353552	G	T	18	23773588	y	y	splicing	LAMA3(NM_001127717:exon9:c.1273+1G>T;NM_198129:exon9:c.1273+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1273+1G>T;ENST00000585600:exon9:c.1273+1G>T;ENST00000399516:exon9:c.1273+1G>T)	.	.	0.999990361384395	0.938
18	21353553	T	A	18	23773589	y	y	splicing	LAMA3(NM_001127717:exon9:c.1273+2T>A;NM_198129:exon9:c.1273+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1273+2T>A;ENST00000585600:exon9:c.1273+2T>A;ENST00000399516:exon9:c.1273+2T>A)	.	.	0.999988247793601	0.93
18	21353553	T	C	18	23773589	y	y	splicing	LAMA3(NM_001127717:exon9:c.1273+2T>C;NM_198129:exon9:c.1273+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1273+2T>C;ENST00000585600:exon9:c.1273+2T>C;ENST00000399516:exon9:c.1273+2T>C)	.	.	0.99593384708436	0.692
18	21353553	T	G	18	23773589	y	y	splicing	LAMA3(NM_001127717:exon9:c.1273+2T>G;NM_198129:exon9:c.1273+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon9:c.1273+2T>G;ENST00000585600:exon9:c.1273+2T>G;ENST00000399516:exon9:c.1273+2T>G)	.	.	0.999988247793601	0.928
18	21353554	A	C	18	23773590	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999382616582041	0.932
18	21353554	A	G	18	23773590	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.314832937960738	0.33
18	21353554	A	T	18	23773590	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999899259878588	0.944
18	21353555	A	C	18	23773591	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992646195694758	0.83
18	21353555	A	G	18	23773591	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995476478454768	0.934
18	21353555	A	T	18	23773591	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999429376847174	0.91
18	21353556	G	A	18	23773592	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999976008337081	0.996
18	21353556	G	C	18	23773592	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999988586403588	0.986
18	21353556	G	T	18	23773592	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9999668662705	0.992
18	21353557	T	A	18	23773593	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996311255388249	0.664
18	21353557	T	C	18	23773593	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995257541121943	0.836
18	21353557	T	G	18	23773593	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.971032620062606	0.778
18	21353558	T	A	18	23773594	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.79310572903282E-5	0.0
18	21353558	T	C	18	23773594	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.97645748960506E-5	0.0
18	21353558	T	G	18	23773594	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.97645748960506E-5	0.0
18	21353559	T	A	18	23773595	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.59447606838317E-5	0.002
18	21353559	T	C	18	23773595	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.66057879071805E-5	0.002
18	21353559	T	G	18	23773595	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.53313434849662E-5	0.002
18	21355744	G	A	18	23775780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.06372811351345E-4	0.008
18	21355744	G	C	18	23775780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.58014279518912E-4	0.078
18	21355744	G	T	18	23775780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.58014279518912E-4	0.086
18	21355745	A	C	18	23775781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.06905982690304E-4	0.036
18	21355745	A	G	18	23775781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.91965939900938E-5	0.012
18	21355745	A	T	18	23775781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.79081973613859E-4	0.102
18	21355746	T	A	18	23775782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999476751028791	0.802
18	21355746	T	C	18	23775782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0432117412770806	0.41
18	21355746	T	G	18	23775782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999964669678261	0.97
18	21355747	T	A	18	23775783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.951274192454257	0.638
18	21355747	T	C	18	23775783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.34191415291076E-5	0.056
18	21355747	T	G	18	23775783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.678337934443668	0.52
18	21355748	T	A	18	23775784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99804472978678	0.694
18	21355748	T	C	18	23775784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.7830757301072E-4	0.044
18	21355748	T	G	18	23775784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.83149037342083	0.612
18	21355749	C	A	18	23775785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.959402657945359	0.678
18	21355749	C	G	18	23775785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.76043644776258	0.582
18	21355749	C	T	18	23775785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00639736862642162	0.104
18	21355750	T	A	18	23775786	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993748711250671	0.854
18	21355750	T	C	18	23775786	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.15296203604161E-4	0.082
18	21355750	T	G	18	23775786	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999055281566417	0.852
18	21355751	C	A	18	23775787	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0232960358224031	0.206
18	21355751	C	G	18	23775787	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.713206283884447	0.252
18	21355751	C	T	18	23775787	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.84225122730771E-4	0.03
18	21355752	T	A	18	23775788	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.05492283258212E-4	0.042
18	21355752	T	C	18	23775788	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.51454933227502E-5	0.092
18	21355752	T	G	18	23775788	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00109684421797666	0.126
18	21355753	T	A	18	23775789	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.976408308019714	0.594
18	21355753	T	C	18	23775789	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.3115553755218E-5	0.042
18	21355753	T	G	18	23775789	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994266783319366	0.704
18	21355754	A	C	18	23775790	y	y	splicing	LAMA3(NM_001127717:exon10:c.1274-2A>C;NM_198129:exon10:c.1274-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1274-2A>C;ENST00000585600:exon10:c.1274-2A>C;ENST00000399516:exon10:c.1274-2A>C)	.	.	0.999986741007567	0.942
18	21355754	A	G	18	23775790	y	y	splicing	LAMA3(NM_001127717:exon10:c.1274-2A>G;NM_198129:exon10:c.1274-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1274-2A>G;ENST00000585600:exon10:c.1274-2A>G;ENST00000399516:exon10:c.1274-2A>G)	.	.	0.999986741007567	0.942
18	21355754	A	T	18	23775790	y	y	splicing	LAMA3(NM_001127717:exon10:c.1274-2A>T;NM_198129:exon10:c.1274-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1274-2A>T;ENST00000585600:exon10:c.1274-2A>T;ENST00000399516:exon10:c.1274-2A>T)	.	.	0.999986741007567	0.942
18	21355755	G	A	18	23775791	y	y	splicing	LAMA3(NM_001127717:exon10:c.1274-1G>A;NM_198129:exon10:c.1274-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1274-1G>A;ENST00000585600:exon10:c.1274-1G>A;ENST00000399516:exon10:c.1274-1G>A)	.	.	0.999984967332678	0.938
18	21355755	G	C	18	23775791	y	y	splicing	LAMA3(NM_001127717:exon10:c.1274-1G>C;NM_198129:exon10:c.1274-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1274-1G>C;ENST00000585600:exon10:c.1274-1G>C;ENST00000399516:exon10:c.1274-1G>C)	.	.	0.999984967332678	0.938
18	21355755	G	T	18	23775791	y	y	splicing	LAMA3(NM_001127717:exon10:c.1274-1G>T;NM_198129:exon10:c.1274-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1274-1G>T;ENST00000585600:exon10:c.1274-1G>T;ENST00000399516:exon10:c.1274-1G>T)	.	.	0.999984967332678	0.938
18	21355756	C	A	18	23775792	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon10:c.C1274A:p.P425H;LAMA3:NM_001127717:exon10:c.C1274A:p.P425H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.C1274A:p.P425H;ENSG00000053747:ENST00000399516:exon10:c.C1274A:p.P425H;ENSG00000053747:ENST00000313654:exon10:c.C1274A:p.P425H;	0.939499304504497	0.836
18	21355756	C	G	18	23775792	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon10:c.C1274G:p.P425R;LAMA3:NM_001127717:exon10:c.C1274G:p.P425R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.C1274G:p.P425R;ENSG00000053747:ENST00000399516:exon10:c.C1274G:p.P425R;ENSG00000053747:ENST00000313654:exon10:c.C1274G:p.P425R;	0.958427274110079	0.696
18	21355756	C	T	18	23775792	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon10:c.C1274T:p.P425L;LAMA3:NM_001127717:exon10:c.C1274T:p.P425L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.C1274T:p.P425L;ENSG00000053747:ENST00000399516:exon10:c.C1274T:p.P425L;ENSG00000053747:ENST00000313654:exon10:c.C1274T:p.P425L;	0.995826933189993	0.902
18	21355757	C	A	18	23775793	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon10:c.C1275A:p.P425P;LAMA3:NM_001127717:exon10:c.C1275A:p.P425P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.C1275A:p.P425P;ENSG00000053747:ENST00000399516:exon10:c.C1275A:p.P425P;ENSG00000053747:ENST00000313654:exon10:c.C1275A:p.P425P;	4.04957086414529E-4	0.066
18	21355757	C	G	18	23775793	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon10:c.C1275G:p.P425P;LAMA3:NM_001127717:exon10:c.C1275G:p.P425P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.C1275G:p.P425P;ENSG00000053747:ENST00000399516:exon10:c.C1275G:p.P425P;ENSG00000053747:ENST00000313654:exon10:c.C1275G:p.P425P;	4.78086402715936E-5	0.052
18	21355757	C	T	18	23775793	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon10:c.C1275T:p.P425P;LAMA3:NM_001127717:exon10:c.C1275T:p.P425P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.C1275T:p.P425P;ENSG00000053747:ENST00000399516:exon10:c.C1275T:p.P425P;ENSG00000053747:ENST00000313654:exon10:c.C1275T:p.P425P;	3.95057640615098E-5	0.03
18	21355885	T	A	18	23775921	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon10:c.T1403A:p.L468X;LAMA3:NM_001127717:exon10:c.T1403A:p.L468X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000585600:exon10:c.T1403A:p.L468X;ENSG00000053747:ENST00000399516:exon10:c.T1403A:p.L468X;ENSG00000053747:ENST00000313654:exon10:c.T1403A:p.L468X;	1.67916937558213E-5	0.086
18	21355885	T	C	18	23775921	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon10:c.T1403C:p.L468S;LAMA3:NM_001127717:exon10:c.T1403C:p.L468S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.T1403C:p.L468S;ENSG00000053747:ENST00000399516:exon10:c.T1403C:p.L468S;ENSG00000053747:ENST00000313654:exon10:c.T1403C:p.L468S;	1.7634072299745E-5	0.0
18	21355885	T	G	18	23775921	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon10:c.T1403G:p.L468W;LAMA3:NM_001127717:exon10:c.T1403G:p.L468W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.T1403G:p.L468W;ENSG00000053747:ENST00000399516:exon10:c.T1403G:p.L468W;ENSG00000053747:ENST00000313654:exon10:c.T1403G:p.L468W;	4.25949672346587E-5	0.01
18	21355886	G	A	18	23775922	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon10:c.G1404A:p.L468L;LAMA3:NM_001127717:exon10:c.G1404A:p.L468L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.G1404A:p.L468L;ENSG00000053747:ENST00000399516:exon10:c.G1404A:p.L468L;ENSG00000053747:ENST00000313654:exon10:c.G1404A:p.L468L;	2.60931930713312E-5	0.004
18	21355886	G	C	18	23775922	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon10:c.G1404C:p.L468F;LAMA3:NM_001127717:exon10:c.G1404C:p.L468F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.G1404C:p.L468F;ENSG00000053747:ENST00000399516:exon10:c.G1404C:p.L468F;ENSG00000053747:ENST00000313654:exon10:c.G1404C:p.L468F;	3.92083041661938E-5	0.0
18	21355886	G	T	18	23775922	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon10:c.G1404T:p.L468F;LAMA3:NM_001127717:exon10:c.G1404T:p.L468F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.G1404T:p.L468F;ENSG00000053747:ENST00000399516:exon10:c.G1404T:p.L468F;ENSG00000053747:ENST00000313654:exon10:c.G1404T:p.L468F;	7.72580994049313E-5	0.004
18	21355887	A	C	18	23775923	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon10:c.A1405C:p.R469R;LAMA3:NM_001127717:exon10:c.A1405C:p.R469R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.A1405C:p.R469R;ENSG00000053747:ENST00000399516:exon10:c.A1405C:p.R469R;ENSG00000053747:ENST00000313654:exon10:c.A1405C:p.R469R;	4.55204973647258E-4	0.014
18	21355887	A	G	18	23775923	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon10:c.A1405G:p.R469G;LAMA3:NM_001127717:exon10:c.A1405G:p.R469G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon10:c.A1405G:p.R469G;ENSG00000053747:ENST00000399516:exon10:c.A1405G:p.R469G;ENSG00000053747:ENST00000313654:exon10:c.A1405G:p.R469G;	1.20069028708065E-4	0.178
18	21355887	A	T	18	23775923	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon10:c.A1405T:p.R469X;LAMA3:NM_001127717:exon10:c.A1405T:p.R469X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000585600:exon10:c.A1405T:p.R469X;ENSG00000053747:ENST00000399516:exon10:c.A1405T:p.R469X;ENSG00000053747:ENST00000313654:exon10:c.A1405T:p.R469X;	0.0514056772388357	0.196
18	21355888	G	A	18	23775924	y	y	splicing	LAMA3(NM_001127717:exon10:c.1405+1G>A;NM_198129:exon10:c.1405+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1405+1G>A;ENST00000585600:exon10:c.1405+1G>A;ENST00000399516:exon10:c.1405+1G>A)	.	.	0.999938990645747	0.908
18	21355888	G	C	18	23775924	y	y	splicing	LAMA3(NM_001127717:exon10:c.1405+1G>C;NM_198129:exon10:c.1405+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1405+1G>C;ENST00000585600:exon10:c.1405+1G>C;ENST00000399516:exon10:c.1405+1G>C)	.	.	0.999960200702261	0.936
18	21355888	G	T	18	23775924	y	y	splicing	LAMA3(NM_001127717:exon10:c.1405+1G>T;NM_198129:exon10:c.1405+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1405+1G>T;ENST00000585600:exon10:c.1405+1G>T;ENST00000399516:exon10:c.1405+1G>T)	.	.	0.999938990645747	0.938
18	21355889	T	A	18	23775925	y	y	splicing	LAMA3(NM_001127717:exon10:c.1405+2T>A;NM_198129:exon10:c.1405+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1405+2T>A;ENST00000585600:exon10:c.1405+2T>A;ENST00000399516:exon10:c.1405+2T>A)	.	.	0.999946188727699	0.934
18	21355889	T	C	18	23775925	y	y	splicing	LAMA3(NM_001127717:exon10:c.1405+2T>C;NM_198129:exon10:c.1405+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1405+2T>C;ENST00000585600:exon10:c.1405+2T>C;ENST00000399516:exon10:c.1405+2T>C)	.	.	0.998315204134934	0.786
18	21355889	T	G	18	23775925	y	y	splicing	LAMA3(NM_001127717:exon10:c.1405+2T>G;NM_198129:exon10:c.1405+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon10:c.1405+2T>G;ENST00000585600:exon10:c.1405+2T>G;ENST00000399516:exon10:c.1405+2T>G)	.	.	0.999964896440643	0.932
18	21355890	A	C	18	23775926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999824641100923	0.91
18	21355890	A	G	18	23775926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0380608527555999	0.276
18	21355890	A	T	18	23775926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999847221981437	0.904
18	21355891	A	C	18	23775927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991799204897005	0.7
18	21355891	A	G	18	23775927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.987603553337931	0.864
18	21355891	A	T	18	23775927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.987580293073374	0.794
18	21355892	G	A	18	23775928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999985417230147	0.994
18	21355892	G	C	18	23775928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999993848640733	0.982
18	21355892	G	T	18	23775928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999991425536801	0.988
18	21355893	T	A	18	23775929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.972236457684818	0.658
18	21355893	T	C	18	23775929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.946713217818697	0.748
18	21355893	T	G	18	23775929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.964413805722169	0.7
18	21355894	A	C	18	23775930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.25744236322288E-5	0.0
18	21355894	A	G	18	23775930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.13553750130627E-5	0.0
18	21355894	A	T	18	23775930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.25744236322288E-5	0.0
18	21355895	C	A	18	23775931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.44823015886644E-5	0.004
18	21355895	C	G	18	23775931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17486155721189E-5	0.0
18	21355895	C	T	18	23775931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.46272204038908E-5	0.002
18	21357509	C	A	18	23777545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.09975071780803E-4	0.076
18	21357509	C	G	18	23777545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999866895799243	0.964
18	21357509	C	T	18	23777545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.51176127383443E-4	0.026
18	21357510	T	A	18	23777546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.614311007170559	0.622
18	21357510	T	C	18	23777546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0509031796448266	0.24
18	21357510	T	G	18	23777546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.54635677393055	0.58
18	21357511	A	C	18	23777547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71869413685155E-5	0.0
18	21357511	A	G	18	23777547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.75619026700272E-4	0.0
18	21357511	A	T	18	23777547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.1203831590628E-5	0.008
18	21357512	T	A	18	23777548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0485686017335891	0.47
18	21357512	T	C	18	23777548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00281304894355644	0.09
18	21357512	T	G	18	23777548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999974698361402	0.986
18	21357513	T	A	18	23777549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00136522242432282	0.096
18	21357513	T	C	18	23777549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.32336898936983E-5	0.002
18	21357513	T	G	18	23777549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00132749938141768	0.028
18	21357514	T	A	18	23777550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.854778608039119	0.628
18	21357514	T	C	18	23777550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00365828073757775	0.094
18	21357514	T	G	18	23777550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.784296239044427	0.454
18	21357515	T	A	18	23777551	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.21382286394128	0.508
18	21357515	T	C	18	23777551	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.48071181664493E-4	0.078
18	21357515	T	G	18	23777551	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.232284489626499	0.518
18	21357516	T	A	18	23777552	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.285070628981106	0.35
18	21357516	T	C	18	23777552	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.98241441338378E-4	0.008
18	21357516	T	G	18	23777552	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.636512398801904	0.402
18	21357517	A	C	18	23777553	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.23593309966203E-4	0.11
18	21357517	A	G	18	23777553	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00194144674298748	0.152
18	21357517	A	T	18	23777553	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.13821473779857E-4	0.016
18	21357518	C	A	18	23777554	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.236157376385074	0.476
18	21357518	C	G	18	23777554	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998942048395732	0.868
18	21357518	C	T	18	23777554	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00151495758635698	0.03
18	21357519	A	C	18	23777555	y	y	splicing	LAMA3(NM_001127717:exon11:c.1406-2A>C;NM_198129:exon11:c.1406-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon11:c.1406-2A>C;ENST00000585600:exon11:c.1406-2A>C;ENST00000399516:exon11:c.1406-2A>C)	.	.	0.999988247793601	0.95
18	21357519	A	G	18	23777555	y	y	splicing	LAMA3(NM_001127717:exon11:c.1406-2A>G;NM_198129:exon11:c.1406-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon11:c.1406-2A>G;ENST00000585600:exon11:c.1406-2A>G;ENST00000399516:exon11:c.1406-2A>G)	.	.	0.999988247793601	0.95
18	21357519	A	T	18	23777555	y	y	splicing	LAMA3(NM_001127717:exon11:c.1406-2A>T;NM_198129:exon11:c.1406-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon11:c.1406-2A>T;ENST00000585600:exon11:c.1406-2A>T;ENST00000399516:exon11:c.1406-2A>T)	.	.	0.999988247793601	0.95
18	21357520	G	A	18	23777556	y	y	splicing	LAMA3(NM_001127717:exon11:c.1406-1G>A;NM_198129:exon11:c.1406-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon11:c.1406-1G>A;ENST00000585600:exon11:c.1406-1G>A;ENST00000399516:exon11:c.1406-1G>A)	.	.	0.999985532734767	0.95
18	21357520	G	C	18	23777556	y	y	splicing	LAMA3(NM_001127717:exon11:c.1406-1G>C;NM_198129:exon11:c.1406-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon11:c.1406-1G>C;ENST00000585600:exon11:c.1406-1G>C;ENST00000399516:exon11:c.1406-1G>C)	.	.	0.999985532734767	0.95
18	21357520	G	T	18	23777556	y	y	splicing	LAMA3(NM_001127717:exon11:c.1406-1G>T;NM_198129:exon11:c.1406-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon11:c.1406-1G>T;ENST00000585600:exon11:c.1406-1G>T;ENST00000399516:exon11:c.1406-1G>T)	.	.	0.999985532734767	0.95
18	21357521	G	A	18	23777557	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon11:c.G1406A:p.R469K;LAMA3:NM_001127717:exon11:c.G1406A:p.R469K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon11:c.G1406A:p.R469K;ENSG00000053747:ENST00000399516:exon11:c.G1406A:p.R469K;ENSG00000053747:ENST00000313654:exon11:c.G1406A:p.R469K;	0.0124398158886832	0.17
18	21357521	G	C	18	23777557	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon11:c.G1406C:p.R469T;LAMA3:NM_001127717:exon11:c.G1406C:p.R469T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon11:c.G1406C:p.R469T;ENSG00000053747:ENST00000399516:exon11:c.G1406C:p.R469T;ENSG00000053747:ENST00000313654:exon11:c.G1406C:p.R469T;	0.0185471841503996	0.258
18	21357521	G	T	18	23777557	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon11:c.G1406T:p.R469I;LAMA3:NM_001127717:exon11:c.G1406T:p.R469I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon11:c.G1406T:p.R469I;ENSG00000053747:ENST00000399516:exon11:c.G1406T:p.R469I;ENSG00000053747:ENST00000313654:exon11:c.G1406T:p.R469I;	0.375286183905058	0.368
18	21357522	A	C	18	23777558	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon11:c.A1407C:p.R469S;LAMA3:NM_001127717:exon11:c.A1407C:p.R469S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon11:c.A1407C:p.R469S;ENSG00000053747:ENST00000399516:exon11:c.A1407C:p.R469S;ENSG00000053747:ENST00000313654:exon11:c.A1407C:p.R469S;	0.00170041448601107	0.048
18	21357522	A	G	18	23777558	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon11:c.A1407G:p.R469R;LAMA3:NM_001127717:exon11:c.A1407G:p.R469R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon11:c.A1407G:p.R469R;ENSG00000053747:ENST00000399516:exon11:c.A1407G:p.R469R;ENSG00000053747:ENST00000313654:exon11:c.A1407G:p.R469R;	0.00297360115804519	0.066
18	21357522	A	T	18	23777558	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon11:c.A1407T:p.R469S;LAMA3:NM_001127717:exon11:c.A1407T:p.R469S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon11:c.A1407T:p.R469S;ENSG00000053747:ENST00000399516:exon11:c.A1407T:p.R469S;ENSG00000053747:ENST00000313654:exon11:c.A1407T:p.R469S;	0.00118019282509032	0.016
18	21363975	T	A	18	23784011	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998138859639162	0.97
18	21363975	T	C	18	23784011	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.152334930452E-4	0.0
18	21363975	T	G	18	23784011	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.97781175840885E-4	0.084
18	21363976	G	A	18	23784012	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.94604369598981E-4	0.044
18	21363976	G	C	18	23784012	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.98006286342966E-5	0.0
18	21363976	G	T	18	23784012	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.38272615504641E-5	0.0
18	21363977	T	A	18	23784013	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.63764225048267E-4	0.066
18	21363977	T	C	18	23784013	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.76150019360836E-5	0.0
18	21363977	T	G	18	23784013	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.03418140531379E-4	0.056
18	21363978	C	A	18	23784014	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00149679249054085	0.042
18	21363978	C	G	18	23784014	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.72130689223219E-4	0.03
18	21363978	C	T	18	23784014	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.93066227622062E-5	0.002
18	21363979	T	A	18	23784015	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.40369600807816E-4	0.028
18	21363979	T	C	18	23784015	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.17542222972214E-5	0.0
18	21363979	T	G	18	23784015	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.40589499945563E-4	0.022
18	21363980	T	A	18	23784016	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00377452017033297	0.198
18	21363980	T	C	18	23784016	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00102138818569399	0.016
18	21363980	T	G	18	23784016	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00545233415444651	0.156
18	21363981	C	A	18	23784017	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00396520411785275	0.142
18	21363981	C	G	18	23784017	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00232504835931562	0.09
18	21363981	C	T	18	23784017	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.92826123357092E-5	0.0
18	21363982	T	A	18	23784018	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.738746145765034	0.712
18	21363982	T	C	18	23784018	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.20595845216838E-5	0.002
18	21363982	T	G	18	23784018	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0015121213285635	0.144
18	21363983	G	A	18	23784019	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.42667640437471E-5	0.002
18	21363983	G	C	18	23784019	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.94676596455644E-5	0.004
18	21363983	G	T	18	23784019	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17486155721189E-5	0.002
18	21363984	C	A	18	23784020	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.589474611849833	0.542
18	21363984	C	G	18	23784020	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998149919498668	0.898
18	21363984	C	T	18	23784020	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.61937151560691E-4	0.004
18	21363985	A	C	18	23784021	y	y	splicing	LAMA3(NM_001127717:exon12:c.1469-2A>C;NM_198129:exon12:c.1469-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1469-2A>C;ENST00000585600:exon12:c.1469-2A>C;ENST00000399516:exon12:c.1469-2A>C)	.	.	0.999946188727699	0.94
18	21363985	A	G	18	23784021	y	y	splicing	LAMA3(NM_001127717:exon12:c.1469-2A>G;NM_198129:exon12:c.1469-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1469-2A>G;ENST00000585600:exon12:c.1469-2A>G;ENST00000399516:exon12:c.1469-2A>G)	.	.	0.999946188727699	0.94
18	21363985	A	T	18	23784021	y	y	splicing	LAMA3(NM_001127717:exon12:c.1469-2A>T;NM_198129:exon12:c.1469-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1469-2A>T;ENST00000585600:exon12:c.1469-2A>T;ENST00000399516:exon12:c.1469-2A>T)	.	.	0.999946188727699	0.944
18	21363986	G	A	18	23784022	y	y	splicing	LAMA3(NM_001127717:exon12:c.1469-1G>A;NM_198129:exon12:c.1469-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1469-1G>A;ENST00000585600:exon12:c.1469-1G>A;ENST00000399516:exon12:c.1469-1G>A)	.	.	0.999956786857988	0.938
18	21363986	G	C	18	23784022	y	y	splicing	LAMA3(NM_001127717:exon12:c.1469-1G>C;NM_198129:exon12:c.1469-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1469-1G>C;ENST00000585600:exon12:c.1469-1G>C;ENST00000399516:exon12:c.1469-1G>C)	.	.	0.999955279531929	0.932
18	21363986	G	T	18	23784022	y	y	splicing	LAMA3(NM_001127717:exon12:c.1469-1G>T;NM_198129:exon12:c.1469-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1469-1G>T;ENST00000585600:exon12:c.1469-1G>T;ENST00000399516:exon12:c.1469-1G>T)	.	.	0.999956786857988	0.938
18	21363987	G	A	18	23784023	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.G1469A:p.G490E;LAMA3:NM_001127717:exon12:c.G1469A:p.G490E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.G1469A:p.G490E;ENSG00000053747:ENST00000399516:exon12:c.G1469A:p.G490E;ENSG00000053747:ENST00000313654:exon12:c.G1469A:p.G490E;	0.00389696440761278	0.268
18	21363987	G	C	18	23784023	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.G1469C:p.G490A;LAMA3:NM_001127717:exon12:c.G1469C:p.G490A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.G1469C:p.G490A;ENSG00000053747:ENST00000399516:exon12:c.G1469C:p.G490A;ENSG00000053747:ENST00000313654:exon12:c.G1469C:p.G490A;	0.024816483072237	0.42
18	21363987	G	T	18	23784023	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.G1469T:p.G490V;LAMA3:NM_001127717:exon12:c.G1469T:p.G490V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.G1469T:p.G490V;ENSG00000053747:ENST00000399516:exon12:c.G1469T:p.G490V;ENSG00000053747:ENST00000313654:exon12:c.G1469T:p.G490V;	0.488167134483037	0.5
18	21363988	G	A	18	23784024	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon12:c.G1470A:p.G490G;LAMA3:NM_001127717:exon12:c.G1470A:p.G490G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.G1470A:p.G490G;ENSG00000053747:ENST00000399516:exon12:c.G1470A:p.G490G;ENSG00000053747:ENST00000313654:exon12:c.G1470A:p.G490G;	4.88509242303014E-5	0.004
18	21363988	G	C	18	23784024	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon12:c.G1470C:p.G490G;LAMA3:NM_001127717:exon12:c.G1470C:p.G490G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.G1470C:p.G490G;ENSG00000053747:ENST00000399516:exon12:c.G1470C:p.G490G;ENSG00000053747:ENST00000313654:exon12:c.G1470C:p.G490G;	5.23476456190856E-5	0.0
18	21363988	G	T	18	23784024	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon12:c.G1470T:p.G490G;LAMA3:NM_001127717:exon12:c.G1470T:p.G490G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.G1470T:p.G490G;ENSG00000053747:ENST00000399516:exon12:c.G1470T:p.G490G;ENSG00000053747:ENST00000313654:exon12:c.G1470T:p.G490G;	3.72099436760796E-5	0.004
18	21364119	A	C	18	23784155	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.A1601C:p.Q534P;LAMA3:NM_001127717:exon12:c.A1601C:p.Q534P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.A1601C:p.Q534P;ENSG00000053747:ENST00000399516:exon12:c.A1601C:p.Q534P;ENSG00000053747:ENST00000313654:exon12:c.A1601C:p.Q534P;	1.14704435770565E-4	0.0
18	21364119	A	G	18	23784155	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.A1601G:p.Q534R;LAMA3:NM_001127717:exon12:c.A1601G:p.Q534R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.A1601G:p.Q534R;ENSG00000053747:ENST00000399516:exon12:c.A1601G:p.Q534R;ENSG00000053747:ENST00000313654:exon12:c.A1601G:p.Q534R;	1.41569536845542E-4	0.008
18	21364119	A	T	18	23784155	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.A1601T:p.Q534L;LAMA3:NM_001127717:exon12:c.A1601T:p.Q534L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.A1601T:p.Q534L;ENSG00000053747:ENST00000399516:exon12:c.A1601T:p.Q534L;ENSG00000053747:ENST00000313654:exon12:c.A1601T:p.Q534L;	0.00363830917909546	0.196
18	21364120	A	C	18	23784156	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.A1602C:p.Q534H;LAMA3:NM_001127717:exon12:c.A1602C:p.Q534H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.A1602C:p.Q534H;ENSG00000053747:ENST00000399516:exon12:c.A1602C:p.Q534H;ENSG00000053747:ENST00000313654:exon12:c.A1602C:p.Q534H;	0.988249236992916	0.716
18	21364120	A	G	18	23784156	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon12:c.A1602G:p.Q534Q;LAMA3:NM_001127717:exon12:c.A1602G:p.Q534Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.A1602G:p.Q534Q;ENSG00000053747:ENST00000399516:exon12:c.A1602G:p.Q534Q;ENSG00000053747:ENST00000313654:exon12:c.A1602G:p.Q534Q;	0.857840987655861	0.602
18	21364120	A	T	18	23784156	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.A1602T:p.Q534H;LAMA3:NM_001127717:exon12:c.A1602T:p.Q534H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.A1602T:p.Q534H;ENSG00000053747:ENST00000399516:exon12:c.A1602T:p.Q534H;ENSG00000053747:ENST00000313654:exon12:c.A1602T:p.Q534H;	0.988249236992916	0.588
18	21364121	G	A	18	23784157	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.G1603A:p.A535T;LAMA3:NM_001127717:exon12:c.G1603A:p.A535T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.G1603A:p.G535R;ENSG00000053747:ENST00000399516:exon12:c.G1603A:p.A535T;ENSG00000053747:ENST00000313654:exon12:c.G1603A:p.A535T;	0.84044517882097	0.762
18	21364121	G	C	18	23784157	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.G1603C:p.A535P;LAMA3:NM_001127717:exon12:c.G1603C:p.A535P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon12:c.G1603C:p.G535R;ENSG00000053747:ENST00000399516:exon12:c.G1603C:p.A535P;ENSG00000053747:ENST00000313654:exon12:c.G1603C:p.A535P;	0.747000541881728	0.494
18	21364121	G	T	18	23784157	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon12:c.G1603T:p.A535S;LAMA3:NM_001127717:exon12:c.G1603T:p.A535S;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000585600:exon12:c.G1603T:p.G535X;	0.942221807927572	0.728
18	21364122	G	A	18	23784158	y	y	splicing	LAMA3(NM_001127717:exon12:c.1603+1G>A;NM_198129:exon12:c.1603+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1603+1G>A;ENST00000585600:exon12:c.1603+1G>A;ENST00000399516:exon12:c.1603+1G>A)	.	.	0.999985532734767	0.938
18	21364122	G	C	18	23784158	y	y	splicing	LAMA3(NM_001127717:exon12:c.1603+1G>C;NM_198129:exon12:c.1603+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1603+1G>C;ENST00000585600:exon12:c.1603+1G>C;ENST00000399516:exon12:c.1603+1G>C)	.	.	0.999985532734767	0.938
18	21364122	G	T	18	23784158	y	y	splicing	LAMA3(NM_001127717:exon12:c.1603+1G>T;NM_198129:exon12:c.1603+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1603+1G>T;ENST00000585600:exon12:c.1603+1G>T;ENST00000399516:exon12:c.1603+1G>T)	.	.	0.999985532734767	0.938
18	21364123	T	A	18	23784159	y	y	splicing	LAMA3(NM_001127717:exon12:c.1603+2T>A;NM_198129:exon12:c.1603+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1603+2T>A;ENST00000585600:exon12:c.1603+2T>A;ENST00000399516:exon12:c.1603+2T>A)	.	.	0.999988247793601	0.928
18	21364123	T	C	18	23784159	y	y	splicing	LAMA3(NM_001127717:exon12:c.1603+2T>C;NM_198129:exon12:c.1603+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1603+2T>C;ENST00000585600:exon12:c.1603+2T>C;ENST00000399516:exon12:c.1603+2T>C)	.	.	0.992783534660112	0.634
18	21364123	T	G	18	23784159	y	y	splicing	LAMA3(NM_001127717:exon12:c.1603+2T>G;NM_198129:exon12:c.1603+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon12:c.1603+2T>G;ENST00000585600:exon12:c.1603+2T>G;ENST00000399516:exon12:c.1603+2T>G)	.	.	0.999988247793601	0.928
18	21364124	A	C	18	23784160	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.610784099511084	0.548
18	21364124	A	G	18	23784160	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00179085113117692	0.056
18	21364124	A	T	18	23784160	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.304688119745006	0.374
18	21364125	A	C	18	23784161	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.851388690355852	0.624
18	21364125	A	G	18	23784161	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.946919330374274	0.644
18	21364125	A	T	18	23784161	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.922972828768393	0.658
18	21364126	G	A	18	23784162	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998979140219507	0.832
18	21364126	G	C	18	23784162	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.977557810137176	0.74
18	21364126	G	T	18	23784162	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.988502817322999	0.77
18	21364127	T	A	18	23784163	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00711803123743102	0.23
18	21364127	T	C	18	23784163	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0178540631998929	0.176
18	21364127	T	G	18	23784163	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00216556497470048	0.12
18	21364128	G	A	18	23784164	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.31080543285591E-4	0.004
18	21364128	G	C	18	23784164	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.81152696291466E-4	0.014
18	21364128	G	T	18	23784164	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.52882124750724E-4	0.004
18	21364129	G	A	18	23784165	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.33698758487849E-4	0.016
18	21364129	G	C	18	23784165	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.52408431330711E-4	0.018
18	21364129	G	T	18	23784165	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.74068614057174E-4	0.034
18	21375975	C	A	18	23796011	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.01559384236425E-5	0.004
18	21375975	C	G	18	23796011	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.01559384236425E-5	0.0
18	21375975	C	T	18	23796011	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.41069364790736E-5	0.008
18	21375976	T	A	18	23796012	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.42206730061288E-5	0.002
18	21375976	T	C	18	23796012	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57607375837078E-5	0.034
18	21375976	T	G	18	23796012	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57607375837078E-5	0.1
18	21375977	A	C	18	23796013	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71486889510802E-5	0.006
18	21375977	A	G	18	23796013	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71486889510802E-5	0.006
18	21375977	A	T	18	23796013	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.42544334184685E-5	0.008
18	21375978	C	A	18	23796014	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.81456590373184E-4	0.084
18	21375978	C	G	18	23796014	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.81456590373184E-4	0.048
18	21375978	C	T	18	23796014	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.60081151915995E-4	0.062
18	21375979	C	A	18	23796015	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.06850435703539E-5	0.008
18	21375979	C	G	18	23796015	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.55663598370402E-5	0.002
18	21375979	C	T	18	23796015	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.06850435703539E-5	0.006
18	21375980	A	C	18	23796016	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71486889510802E-5	0.002
18	21375980	A	G	18	23796016	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71486889510802E-5	0.002
18	21375980	A	T	18	23796016	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.42544334184685E-5	0.008
18	21375981	T	A	18	23796017	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57607375837078E-5	0.1
18	21375981	T	C	18	23796017	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57607375837078E-5	0.008
18	21375981	T	G	18	23796017	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57607375837078E-5	0.008
18	21375982	G	A	18	23796018	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.99153316237132E-5	0.0
18	21375982	G	C	18	23796018	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.99153316237132E-5	0.0
18	21375982	G	T	18	23796018	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.99153316237132E-5	0.0
18	21375983	T	A	18	23796019	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.60081151915995E-4	0.01
18	21375983	T	C	18	23796019	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.81456590373184E-4	0.092
18	21375983	T	G	18	23796019	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.60081151915995E-4	0.08
18	21375984	G	A	18	23796020	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.55663598370402E-5	0.0
18	21375984	G	C	18	23796020	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.36940056884885E-5	0.002
18	21375984	G	T	18	23796020	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.36940056884885E-5	0.002
18	21375985	A	C	18	23796021	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000585600:exon13:c.1604-2A>C)	.	.	4.81456590373184E-4	0.146
18	21375985	A	G	18	23796021	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000585600:exon13:c.1604-2A>G)	.	.	4.81456590373184E-4	0.13
18	21375985	A	T	18	23796021	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000585600:exon13:c.1604-2A>T)	.	.	3.60081151915995E-4	0.01
18	21375986	G	A	18	23796022	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000585600:exon13:c.1604-1G>A)	.	.	2.68219155180855E-5	0.002
18	21375986	G	C	18	23796022	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000585600:exon13:c.1604-1G>C)	.	.	2.68219155180855E-5	0.002
18	21375986	G	T	18	23796022	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000585600:exon13:c.1604-1G>T)	.	.	2.68219155180855E-5	0.002
18	21375987	G	A	18	23796023	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon13:c.G1604A:p.G535E;	3.29172098833992E-5	0.034
18	21375987	G	C	18	23796023	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon13:c.G1604C:p.G535A;	3.29172098833992E-5	0.034
18	21375987	G	T	18	23796023	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000585600:exon13:c.G1604T:p.G535V;	3.29172098833992E-5	0.034
18	21375988	A	C	18	23796024	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon13:c.A1605C:p.G535G;	1.01559384236425E-5	0.002
18	21375988	A	G	18	23796024	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon13:c.A1605G:p.G535G;	1.01559384236425E-5	0.0
18	21375988	A	T	18	23796024	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000585600:exon13:c.A1605T:p.G535G;	4.39765988491657E-5	0.006
18	21390318	T	A	18	23810354	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.861390080601764	0.662
18	21390318	T	C	18	23810354	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00243945454451253	0.17
18	21390318	T	G	18	23810354	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.567741895456805	0.54
18	21390319	C	A	18	23810355	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.20875603632565	0.22
18	21390319	C	G	18	23810355	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00452394240527076	0.112
18	21390319	C	T	18	23810355	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.58114082086408E-4	0.02
18	21390320	T	A	18	23810356	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.455930940725859	0.488
18	21390320	T	C	18	23810356	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00131456473453194	0.19
18	21390320	T	G	18	23810356	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0129764084582835	0.4
18	21390321	T	A	18	23810357	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.193793361832178	0.426
18	21390321	T	C	18	23810357	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.12263250273981E-4	0.124
18	21390321	T	G	18	23810357	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0445357471673	0.4
18	21390322	T	A	18	23810358	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0520507345650955	0.306
18	21390322	T	C	18	23810358	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.66050740369511E-5	0.014
18	21390322	T	G	18	23810358	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0429650646738995	0.34
18	21390323	C	A	18	23810359	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00282122379393311	0.1
18	21390323	C	G	18	23810359	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.13208089907344E-4	0.042
18	21390323	C	T	18	23810359	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.59433951199616E-5	0.03
18	21390324	A	C	18	23810360	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.84014216779924E-4	0.038
18	21390324	A	G	18	23810360	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.31001383927399E-4	0.122
18	21390324	A	T	18	23810360	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.60048346413611E-4	0.032
18	21390325	T	A	18	23810361	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0930337058100002	0.304
18	21390325	T	C	18	23810361	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00239588538098264	0.194
18	21390325	T	G	18	23810361	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999948097169111	0.848
18	21390326	C	A	18	23810362	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.48604062983951E-4	0.026
18	21390326	C	G	18	23810362	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.23457422438294E-4	0.044
18	21390326	C	T	18	23810362	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.19933560880125E-5	0.016
18	21390327	C	A	18	23810363	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993729800874697	0.78
18	21390327	C	G	18	23810363	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999362298800879	0.78
18	21390327	C	T	18	23810363	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.99077460849221E-4	0.03
18	21390328	A	C	18	23810364	y	y	splicing	LAMA3(NM_001127717:exon13:c.1604-2A>C;NM_198129:exon13:c.1604-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1604-2A>C;ENST00000399516:exon13:c.1604-2A>C)	.	.	0.999986741007567	0.938
18	21390328	A	G	18	23810364	y	y	splicing	LAMA3(NM_001127717:exon13:c.1604-2A>G;NM_198129:exon13:c.1604-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1604-2A>G;ENST00000399516:exon13:c.1604-2A>G)	.	.	0.999986741007567	0.938
18	21390328	A	T	18	23810364	y	y	splicing	LAMA3(NM_001127717:exon13:c.1604-2A>T;NM_198129:exon13:c.1604-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1604-2A>T;ENST00000399516:exon13:c.1604-2A>T)	.	.	0.999986741007567	0.938
18	21390329	G	A	18	23810365	y	y	splicing	LAMA3(NM_001127717:exon13:c.1604-1G>A;NM_198129:exon13:c.1604-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1604-1G>A;ENST00000399516:exon13:c.1604-1G>A)	.	.	0.999987670894945	0.94
18	21390329	G	C	18	23810365	y	y	splicing	LAMA3(NM_001127717:exon13:c.1604-1G>C;NM_198129:exon13:c.1604-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1604-1G>C;ENST00000399516:exon13:c.1604-1G>C)	.	.	0.999987670894945	0.94
18	21390329	G	T	18	23810365	y	y	splicing	LAMA3(NM_001127717:exon13:c.1604-1G>T;NM_198129:exon13:c.1604-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1604-1G>T;ENST00000399516:exon13:c.1604-1G>T)	.	.	0.999987670894945	0.94
18	21390330	C	A	18	23810366	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.C1604A:p.A535D;LAMA3:NM_001127717:exon13:c.C1604A:p.A535D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.C1604A:p.A535D;ENSG00000053747:ENST00000313654:exon13:c.C1604A:p.A535D;	6.44729522953586E-4	0.048
18	21390330	C	G	18	23810366	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.C1604G:p.A535G;LAMA3:NM_001127717:exon13:c.C1604G:p.A535G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.C1604G:p.A535G;ENSG00000053747:ENST00000313654:exon13:c.C1604G:p.A535G;	0.0686278092294577	0.326
18	21390330	C	T	18	23810366	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.C1604T:p.A535V;LAMA3:NM_001127717:exon13:c.C1604T:p.A535V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.C1604T:p.A535V;ENSG00000053747:ENST00000313654:exon13:c.C1604T:p.A535V;	0.00491776030910721	0.17
18	21390331	C	A	18	23810367	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon13:c.C1605A:p.A535A;LAMA3:NM_001127717:exon13:c.C1605A:p.A535A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.C1605A:p.A535A;ENSG00000053747:ENST00000313654:exon13:c.C1605A:p.A535A;	1.1084582747852E-4	0.004
18	21390331	C	G	18	23810367	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon13:c.C1605G:p.A535A;LAMA3:NM_001127717:exon13:c.C1605G:p.A535A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.C1605G:p.A535A;ENSG00000053747:ENST00000313654:exon13:c.C1605G:p.A535A;	1.03296971675214E-4	0.02
18	21390331	C	T	18	23810367	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon13:c.C1605T:p.A535A;LAMA3:NM_001127717:exon13:c.C1605T:p.A535A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.C1605T:p.A535A;ENSG00000053747:ENST00000313654:exon13:c.C1605T:p.A535A;	3.19075310779047E-5	0.05
18	21390465	A	C	18	23810501	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.A1739C:p.Q580P;LAMA3:NM_001127717:exon13:c.A1739C:p.Q580P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.A1739C:p.Q580P;ENSG00000053747:ENST00000313654:exon13:c.A1739C:p.Q580P;	0.00427990210151915	0.136
18	21390465	A	G	18	23810501	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.A1739G:p.Q580R;LAMA3:NM_001127717:exon13:c.A1739G:p.Q580R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.A1739G:p.Q580R;ENSG00000053747:ENST00000313654:exon13:c.A1739G:p.Q580R;	0.0020823301584247	0.102
18	21390465	A	T	18	23810501	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.A1739T:p.Q580L;LAMA3:NM_001127717:exon13:c.A1739T:p.Q580L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.A1739T:p.Q580L;ENSG00000053747:ENST00000313654:exon13:c.A1739T:p.Q580L;	0.225284162147025	0.552
18	21390466	A	C	18	23810502	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.A1740C:p.Q580H;LAMA3:NM_001127717:exon13:c.A1740C:p.Q580H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.A1740C:p.Q580H;ENSG00000053747:ENST00000313654:exon13:c.A1740C:p.Q580H;	0.96333956898743	0.826
18	21390466	A	G	18	23810502	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon13:c.A1740G:p.Q580Q;LAMA3:NM_001127717:exon13:c.A1740G:p.Q580Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.A1740G:p.Q580Q;ENSG00000053747:ENST00000313654:exon13:c.A1740G:p.Q580Q;	0.979542987958065	0.812
18	21390466	A	T	18	23810502	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.A1740T:p.Q580H;LAMA3:NM_001127717:exon13:c.A1740T:p.Q580H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.A1740T:p.Q580H;ENSG00000053747:ENST00000313654:exon13:c.A1740T:p.Q580H;	0.997378798039497	0.914
18	21390467	G	A	18	23810503	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.G1741A:p.G581S;LAMA3:NM_001127717:exon13:c.G1741A:p.G581S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.G1741A:p.G581S;ENSG00000053747:ENST00000313654:exon13:c.G1741A:p.G581S;	0.999972395189454	1.0
18	21390467	G	C	18	23810503	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.G1741C:p.G581R;LAMA3:NM_001127717:exon13:c.G1741C:p.G581R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.G1741C:p.G581R;ENSG00000053747:ENST00000313654:exon13:c.G1741C:p.G581R;	0.99999142185352	1.0
18	21390467	G	T	18	23810503	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon13:c.G1741T:p.G581C;LAMA3:NM_001127717:exon13:c.G1741T:p.G581C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon13:c.G1741T:p.G581C;ENSG00000053747:ENST00000313654:exon13:c.G1741T:p.G581C;	0.99998851376936	0.988
18	21390468	G	A	18	23810504	y	y	splicing	LAMA3(NM_001127717:exon13:c.1741+1G>A;NM_198129:exon13:c.1741+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1741+1G>A;ENST00000399516:exon13:c.1741+1G>A)	.	.	0.999986675681007	0.934
18	21390468	G	C	18	23810504	y	y	splicing	LAMA3(NM_001127717:exon13:c.1741+1G>C;NM_198129:exon13:c.1741+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1741+1G>C;ENST00000399516:exon13:c.1741+1G>C)	.	.	0.999986675681007	0.934
18	21390468	G	T	18	23810504	y	y	splicing	LAMA3(NM_001127717:exon13:c.1741+1G>T;NM_198129:exon13:c.1741+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1741+1G>T;ENST00000399516:exon13:c.1741+1G>T)	.	.	0.999986675681007	0.934
18	21390469	T	A	18	23810505	y	y	splicing	LAMA3(NM_001127717:exon13:c.1741+2T>A;NM_198129:exon13:c.1741+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1741+2T>A;ENST00000399516:exon13:c.1741+2T>A)	.	.	0.999989917668626	0.928
18	21390469	T	C	18	23810505	y	y	splicing	LAMA3(NM_001127717:exon13:c.1741+2T>C;NM_198129:exon13:c.1741+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1741+2T>C;ENST00000399516:exon13:c.1741+2T>C)	.	.	0.991781671885672	0.602
18	21390469	T	G	18	23810505	y	y	splicing	LAMA3(NM_001127717:exon13:c.1741+2T>G;NM_198129:exon13:c.1741+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon13:c.1741+2T>G;ENST00000399516:exon13:c.1741+2T>G)	.	.	0.999989917668626	0.928
18	21390470	A	C	18	23810506	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.973371412901343	0.83
18	21390470	A	G	18	23810506	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.945729325321769	0.658
18	21390470	A	T	18	23810506	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992029959584562	0.792
18	21390471	G	A	18	23810507	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.46401302674454E-5	0.028
18	21390471	G	C	18	23810507	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.78952716872483E-5	0.002
18	21390471	G	T	18	23810507	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.78952716872483E-5	0.002
18	21390472	G	A	18	23810508	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.663539916353341	0.504
18	21390472	G	C	18	23810508	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.942703034431036	0.654
18	21390472	G	T	18	23810508	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999846684072189	0.684
18	21390473	A	C	18	23810509	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.10329153036624E-4	0.034
18	21390473	A	G	18	23810509	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.9379767105393E-5	0.028
18	21390473	A	T	18	23810509	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.97446672856866E-5	0.006
18	21390474	A	C	18	23810510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.64457509596679E-5	0.006
18	21390474	A	G	18	23810510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.92847692595696E-5	0.006
18	21390474	A	T	18	23810510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.92847692595696E-5	0.006
18	21390475	A	C	18	23810511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.18703775061176E-5	0.014
18	21390475	A	G	18	23810511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.42077223070183E-5	0.03
18	21390475	A	T	18	23810511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.96724252030252E-5	0.014
18	21393009	A	C	18	23813045	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.26747844523369E-5	0.042
18	21393009	A	G	18	23813045	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.54389518173392E-4	0.082
18	21393009	A	T	18	23813045	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.24064600435832E-4	0.228
18	21393010	A	C	18	23813046	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.509383898711602	0.562
18	21393010	A	G	18	23813046	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999459774950137	0.926
18	21393010	A	T	18	23813046	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.604561624654546	0.588
18	21393011	T	A	18	23813047	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997121039775136	0.876
18	21393011	T	C	18	23813047	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0600118297699983	0.238
18	21393011	T	G	18	23813047	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999978905430506	0.972
18	21393012	C	A	18	23813048	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.21781045057616	0.344
18	21393012	C	G	18	23813048	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.205353285215522	0.336
18	21393012	C	T	18	23813048	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0386169742508717	0.192
18	21393013	A	C	18	23813049	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71869413685155E-5	0.0
18	21393013	A	G	18	23813049	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.7556660585185E-5	0.0
18	21393013	A	T	18	23813049	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.1203831590628E-5	0.0
18	21393014	T	A	18	23813050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00649043541234916	0.228
18	21393014	T	C	18	23813050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.78269345717825E-5	0.034
18	21393014	T	G	18	23813050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999932519810961	0.964
18	21393015	A	C	18	23813051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.33842319340981E-5	0.04
18	21393015	A	G	18	23813051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.64156213547573E-4	0.032
18	21393015	A	T	18	23813051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.54333317399432E-4	0.08
18	21393016	T	A	18	23813052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.304277835658882	0.426
18	21393016	T	C	18	23813052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.87790807259698E-4	0.188
18	21393016	T	G	18	23813052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999947087183017	0.874
18	21393017	T	A	18	23813053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.56100622039351E-4	0.05
18	21393017	T	C	18	23813053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.63868600218333E-4	0.236
18	21393017	T	G	18	23813053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00396381055776286	0.308
18	21393018	C	A	18	23813054	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.715893337060064	0.564
18	21393018	C	G	18	23813054	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99962944047961	0.654
18	21393018	C	T	18	23813054	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00868241821877318	0.25
18	21393019	A	C	18	23813055	y	y	splicing	LAMA3(NM_001127717:exon14:c.1742-2A>C;NM_198129:exon14:c.1742-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1742-2A>C;ENST00000399516:exon14:c.1742-2A>C)	.	.	0.999988624979899	0.94
18	21393019	A	G	18	23813055	y	y	splicing	LAMA3(NM_001127717:exon14:c.1742-2A>G;NM_198129:exon14:c.1742-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1742-2A>G;ENST00000399516:exon14:c.1742-2A>G)	.	.	0.999988624979899	0.94
18	21393019	A	T	18	23813055	y	y	splicing	LAMA3(NM_001127717:exon14:c.1742-2A>T;NM_198129:exon14:c.1742-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1742-2A>T;ENST00000399516:exon14:c.1742-2A>T)	.	.	0.999988624979899	0.938
18	21393020	G	A	18	23813056	y	y	splicing	LAMA3(NM_001127717:exon14:c.1742-1G>A;NM_198129:exon14:c.1742-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1742-1G>A;ENST00000399516:exon14:c.1742-1G>A)	.	.	0.999979422316293	0.942
18	21393020	G	C	18	23813056	y	y	splicing	LAMA3(NM_001127717:exon14:c.1742-1G>C;NM_198129:exon14:c.1742-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1742-1G>C;ENST00000399516:exon14:c.1742-1G>C)	.	.	0.999979422316293	0.942
18	21393020	G	T	18	23813056	y	y	splicing	LAMA3(NM_001127717:exon14:c.1742-1G>T;NM_198129:exon14:c.1742-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1742-1G>T;ENST00000399516:exon14:c.1742-1G>T)	.	.	0.999979422316293	0.942
18	21393021	G	A	18	23813057	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.G1742A:p.G581D;LAMA3:NM_001127717:exon14:c.G1742A:p.G581D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.G1742A:p.G581D;ENSG00000053747:ENST00000313654:exon14:c.G1742A:p.G581D;	0.015373241080645	0.378
18	21393021	G	C	18	23813057	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.G1742C:p.G581A;LAMA3:NM_001127717:exon14:c.G1742C:p.G581A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.G1742C:p.G581A;ENSG00000053747:ENST00000313654:exon14:c.G1742C:p.G581A;	0.171833494541969	0.504
18	21393021	G	T	18	23813057	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.G1742T:p.G581V;LAMA3:NM_001127717:exon14:c.G1742T:p.G581V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.G1742T:p.G581V;ENSG00000053747:ENST00000313654:exon14:c.G1742T:p.G581V;	0.954998066938077	0.816
18	21393022	T	A	18	23813058	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon14:c.T1743A:p.G581G;LAMA3:NM_001127717:exon14:c.T1743A:p.G581G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.T1743A:p.G581G;ENSG00000053747:ENST00000313654:exon14:c.T1743A:p.G581G;	7.08484960582308E-4	0.094
18	21393022	T	C	18	23813058	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon14:c.T1743C:p.G581G;LAMA3:NM_001127717:exon14:c.T1743C:p.G581G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.T1743C:p.G581G;ENSG00000053747:ENST00000313654:exon14:c.T1743C:p.G581G;	0.00251329336565725	0.078
18	21393022	T	G	18	23813058	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon14:c.T1743G:p.G581G;LAMA3:NM_001127717:exon14:c.T1743G:p.G581G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.T1743G:p.G581G;ENSG00000053747:ENST00000313654:exon14:c.T1743G:p.G581G;	0.00149330459297568	0.056
18	21393065	T	A	18	23813101	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.T1786A:p.L596M;LAMA3:NM_001127717:exon14:c.T1786A:p.L596M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.T1786A:p.L596M;ENSG00000053747:ENST00000313654:exon14:c.T1786A:p.L596M;	7.17188008005914E-6	0.038
18	21393065	T	C	18	23813101	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon14:c.T1786C:p.L596L;LAMA3:NM_001127717:exon14:c.T1786C:p.L596L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.T1786C:p.L596L;ENSG00000053747:ENST00000313654:exon14:c.T1786C:p.L596L;	6.22561683496681E-5	0.0
18	21393065	T	G	18	23813101	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.T1786G:p.L596V;LAMA3:NM_001127717:exon14:c.T1786G:p.L596V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.T1786G:p.L596V;ENSG00000053747:ENST00000313654:exon14:c.T1786G:p.L596V;	1.61464442386556E-4	0.02
18	21393066	T	A	18	23813102	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon14:c.T1787A:p.L596X;LAMA3:NM_001127717:exon14:c.T1787A:p.L596X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon14:c.T1787A:p.L596X;ENSG00000053747:ENST00000313654:exon14:c.T1787A:p.L596X;	0.00195466662896164	0.426
18	21393066	T	C	18	23813102	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.T1787C:p.L596S;LAMA3:NM_001127717:exon14:c.T1787C:p.L596S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.T1787C:p.L596S;ENSG00000053747:ENST00000313654:exon14:c.T1787C:p.L596S;	7.05094557079962E-5	0.002
18	21393066	T	G	18	23813102	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.T1787G:p.L596W;LAMA3:NM_001127717:exon14:c.T1787G:p.L596W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.T1787G:p.L596W;ENSG00000053747:ENST00000313654:exon14:c.T1787G:p.L596W;	0.0019675489929227	0.112
18	21393067	G	A	18	23813103	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon14:c.G1788A:p.L596L;LAMA3:NM_001127717:exon14:c.G1788A:p.L596L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.G1788A:p.L596L;ENSG00000053747:ENST00000313654:exon14:c.G1788A:p.L596L;	0.63816614360293	0.59
18	21393067	G	C	18	23813103	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.G1788C:p.L596F;LAMA3:NM_001127717:exon14:c.G1788C:p.L596F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.G1788C:p.L596F;ENSG00000053747:ENST00000313654:exon14:c.G1788C:p.L596F;	0.994477965154456	0.892
18	21393067	G	T	18	23813103	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon14:c.G1788T:p.L596F;LAMA3:NM_001127717:exon14:c.G1788T:p.L596F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon14:c.G1788T:p.L596F;ENSG00000053747:ENST00000313654:exon14:c.G1788T:p.L596F;	0.99202413714753	0.854
18	21393068	G	A	18	23813104	y	y	splicing	LAMA3(NM_001127717:exon14:c.1788+1G>A;NM_198129:exon14:c.1788+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1788+1G>A;ENST00000399516:exon14:c.1788+1G>A)	.	.	0.999981760802075	0.938
18	21393068	G	C	18	23813104	y	y	splicing	LAMA3(NM_001127717:exon14:c.1788+1G>C;NM_198129:exon14:c.1788+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1788+1G>C;ENST00000399516:exon14:c.1788+1G>C)	.	.	0.999981760802075	0.936
18	21393068	G	T	18	23813104	y	y	splicing	LAMA3(NM_001127717:exon14:c.1788+1G>T;NM_198129:exon14:c.1788+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1788+1G>T;ENST00000399516:exon14:c.1788+1G>T)	.	.	0.999981760802075	0.936
18	21393069	T	A	18	23813105	y	y	splicing	LAMA3(NM_001127717:exon14:c.1788+2T>A;NM_198129:exon14:c.1788+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1788+2T>A;ENST00000399516:exon14:c.1788+2T>A)	.	.	0.999989917668626	0.928
18	21393069	T	C	18	23813105	y	y	splicing	LAMA3(NM_001127717:exon14:c.1788+2T>C;NM_198129:exon14:c.1788+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1788+2T>C;ENST00000399516:exon14:c.1788+2T>C)	.	.	0.988809971481602	0.624
18	21393069	T	G	18	23813105	y	y	splicing	LAMA3(NM_001127717:exon14:c.1788+2T>G;NM_198129:exon14:c.1788+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon14:c.1788+2T>G;ENST00000399516:exon14:c.1788+2T>G)	.	.	0.999989917668626	0.926
18	21393070	A	C	18	23813106	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.990612655639446	0.768
18	21393070	A	G	18	23813106	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0139215652552208	0.196
18	21393070	A	T	18	23813106	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.905129286968029	0.576
18	21393071	A	C	18	23813107	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.885908052886685	0.492
18	21393071	A	G	18	23813107	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.965765770050345	0.77
18	21393071	A	T	18	23813107	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991634698070145	0.718
18	21393072	G	A	18	23813108	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997548859741621	0.924
18	21393072	G	C	18	23813108	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99579155194884	0.906
18	21393072	G	T	18	23813108	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998196812761347	0.868
18	21393073	T	A	18	23813109	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0509547454224428	0.356
18	21393073	T	C	18	23813109	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.1033395997172	0.424
18	21393073	T	G	18	23813109	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00652703115004917	0.266
18	21393074	A	C	18	23813110	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.18508521125715E-5	0.0
18	21393074	A	G	18	23813110	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.67277296589876E-5	0.0
18	21393074	A	T	18	23813110	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.05918261028706E-4	0.0
18	21393075	G	A	18	23813111	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.89210916601576E-5	0.0
18	21393075	G	C	18	23813111	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.89210916601576E-5	0.0
18	21393075	G	T	18	23813111	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.89210916601576E-5	0.0
18	21394355	T	A	18	23814391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.312097389064898	0.706
18	21394355	T	C	18	23814391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0153990523857643	0.164
18	21394355	T	G	18	23814391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.167592506430454	0.578
18	21394356	T	A	18	23814392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.950171572823686	0.602
18	21394356	T	C	18	23814392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0200463202415956	0.182
18	21394356	T	G	18	23814392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.227863720505091	0.462
18	21394357	T	A	18	23814393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0685725620300495	0.396
18	21394357	T	C	18	23814393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00138062447039953	0.07
18	21394357	T	G	18	23814393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.085204286207686	0.38
18	21394358	C	A	18	23814394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.82791378858778E-4	0.09
18	21394358	C	G	18	23814394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00141180684803956	0.096
18	21394358	C	T	18	23814394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.16514589855648E-6	0.006
18	21394359	A	C	18	23814395	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.39164227266237E-5	0.004
18	21394359	A	G	18	23814395	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.98064650046703E-5	0.0
18	21394359	A	T	18	23814395	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.230898211058E-5	0.0
18	21394360	T	A	18	23814396	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.878405286750928	0.52
18	21394360	T	C	18	23814396	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.8126221175872E-4	0.08
18	21394360	T	G	18	23814396	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999960766739114	0.972
18	21394361	T	A	18	23814397	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.672404012297525	0.454
18	21394361	T	C	18	23814397	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.35890681541644E-4	0.078
18	21394361	T	G	18	23814397	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.895186403392489	0.488
18	21394362	C	A	18	23814398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.18210885290156E-4	0.028
18	21394362	C	G	18	23814398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.49315992837063E-4	0.074
18	21394362	C	T	18	23814398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33684777350849E-5	0.002
18	21394363	A	C	18	23814399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.22772019079998E-4	0.048
18	21394363	A	G	18	23814399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.8074304559481E-4	0.038
18	21394363	A	T	18	23814399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.4289719701649E-5	0.002
18	21394364	A	C	18	23814400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.49132376161467E-4	0.068
18	21394364	A	G	18	23814400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.80719924019813	0.574
18	21394364	A	T	18	23814400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4793549653155E-4	0.002
18	21394365	A	C	18	23814401	y	y	splicing	LAMA3(NM_001127717:exon15:c.1789-2A>C;NM_198129:exon15:c.1789-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1789-2A>C;ENST00000399516:exon15:c.1789-2A>C)	.	.	0.999978952611685	0.946
18	21394365	A	G	18	23814401	y	y	splicing	LAMA3(NM_001127717:exon15:c.1789-2A>G;NM_198129:exon15:c.1789-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1789-2A>G;ENST00000399516:exon15:c.1789-2A>G)	.	.	0.999978952611685	0.946
18	21394365	A	T	18	23814401	y	y	splicing	LAMA3(NM_001127717:exon15:c.1789-2A>T;NM_198129:exon15:c.1789-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1789-2A>T;ENST00000399516:exon15:c.1789-2A>T)	.	.	0.999988247793601	0.946
18	21394366	G	A	18	23814402	y	y	splicing	LAMA3(NM_001127717:exon15:c.1789-1G>A;NM_198129:exon15:c.1789-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1789-1G>A;ENST00000399516:exon15:c.1789-1G>A)	.	.	0.999985532734767	0.946
18	21394366	G	C	18	23814402	y	y	splicing	LAMA3(NM_001127717:exon15:c.1789-1G>C;NM_198129:exon15:c.1789-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1789-1G>C;ENST00000399516:exon15:c.1789-1G>C)	.	.	0.999985532734767	0.946
18	21394366	G	T	18	23814402	y	y	splicing	LAMA3(NM_001127717:exon15:c.1789-1G>T;NM_198129:exon15:c.1789-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1789-1G>T;ENST00000399516:exon15:c.1789-1G>T)	.	.	0.999985532734767	0.946
18	21394367	G	A	18	23814403	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.G1789A:p.G597R;LAMA3:NM_001127717:exon15:c.G1789A:p.G597R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.G1789A:p.G597R;ENSG00000053747:ENST00000313654:exon15:c.G1789A:p.G597R;	0.999800187456009	0.91
18	21394367	G	C	18	23814403	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.G1789C:p.G597R;LAMA3:NM_001127717:exon15:c.G1789C:p.G597R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.G1789C:p.G597R;ENSG00000053747:ENST00000313654:exon15:c.G1789C:p.G597R;	0.999691287283124	0.97
18	21394367	G	T	18	23814403	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.G1789T:p.G597W;LAMA3:NM_001127717:exon15:c.G1789T:p.G597W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.G1789T:p.G597W;ENSG00000053747:ENST00000313654:exon15:c.G1789T:p.G597W;	0.999927604679615	0.99
18	21394368	G	A	18	23814404	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.G1790A:p.G597E;LAMA3:NM_001127717:exon15:c.G1790A:p.G597E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.G1790A:p.G597E;ENSG00000053747:ENST00000313654:exon15:c.G1790A:p.G597E;	8.35575018055937E-4	0.01
18	21394368	G	C	18	23814404	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.G1790C:p.G597A;LAMA3:NM_001127717:exon15:c.G1790C:p.G597A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.G1790C:p.G597A;ENSG00000053747:ENST00000313654:exon15:c.G1790C:p.G597A;	4.98172506622322E-4	0.048
18	21394368	G	T	18	23814404	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.G1790T:p.G597V;LAMA3:NM_001127717:exon15:c.G1790T:p.G597V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.G1790T:p.G597V;ENSG00000053747:ENST00000313654:exon15:c.G1790T:p.G597V;	0.0159920637088556	0.106
18	21394464	C	A	18	23814500	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon15:c.C1886A:p.S629X;LAMA3:NM_001127717:exon15:c.C1886A:p.S629X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon15:c.C1886A:p.S629X;ENSG00000053747:ENST00000313654:exon15:c.C1886A:p.S629X;	0.937501781564135	0.856
18	21394464	C	G	18	23814500	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon15:c.C1886G:p.S629X;LAMA3:NM_001127717:exon15:c.C1886G:p.S629X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon15:c.C1886G:p.S629X;ENSG00000053747:ENST00000313654:exon15:c.C1886G:p.S629X;	0.881575951736869	0.686
18	21394464	C	T	18	23814500	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.C1886T:p.S629L;LAMA3:NM_001127717:exon15:c.C1886T:p.S629L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.C1886T:p.S629L;ENSG00000053747:ENST00000313654:exon15:c.C1886T:p.S629L;	0.997339686107039	0.84
18	21394465	A	C	18	23814501	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon15:c.A1887C:p.S629S;LAMA3:NM_001127717:exon15:c.A1887C:p.S629S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.A1887C:p.S629S;ENSG00000053747:ENST00000313654:exon15:c.A1887C:p.S629S;	0.990206201997739	0.934
18	21394465	A	G	18	23814501	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon15:c.A1887G:p.S629S;LAMA3:NM_001127717:exon15:c.A1887G:p.S629S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.A1887G:p.S629S;ENSG00000053747:ENST00000313654:exon15:c.A1887G:p.S629S;	0.998621064196778	0.97
18	21394465	A	T	18	23814501	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon15:c.A1887T:p.S629S;LAMA3:NM_001127717:exon15:c.A1887T:p.S629S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.A1887T:p.S629S;ENSG00000053747:ENST00000313654:exon15:c.A1887T:p.S629S;	0.997979585556772	0.946
18	21394466	G	A	18	23814502	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.G1888A:p.E630K;LAMA3:NM_001127717:exon15:c.G1888A:p.E630K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.G1888A:p.E630K;ENSG00000053747:ENST00000313654:exon15:c.G1888A:p.E630K;	0.999795868380457	0.982
18	21394466	G	C	18	23814502	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon15:c.G1888C:p.E630Q;LAMA3:NM_001127717:exon15:c.G1888C:p.E630Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon15:c.G1888C:p.E630Q;ENSG00000053747:ENST00000313654:exon15:c.G1888C:p.E630Q;	0.99996037635352	0.99
18	21394466	G	T	18	23814502	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon15:c.G1888T:p.E630X;LAMA3:NM_001127717:exon15:c.G1888T:p.E630X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon15:c.G1888T:p.E630X;ENSG00000053747:ENST00000313654:exon15:c.G1888T:p.E630X;	0.999964491713568	0.91
18	21394467	G	A	18	23814503	y	y	splicing	LAMA3(NM_001127717:exon15:c.1888+1G>A;NM_198129:exon15:c.1888+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1888+1G>A;ENST00000399516:exon15:c.1888+1G>A)	.	.	0.999989263107695	0.936
18	21394467	G	C	18	23814503	y	y	splicing	LAMA3(NM_001127717:exon15:c.1888+1G>C;NM_198129:exon15:c.1888+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1888+1G>C;ENST00000399516:exon15:c.1888+1G>C)	.	.	0.999989263107695	0.936
18	21394467	G	T	18	23814503	y	y	splicing	LAMA3(NM_001127717:exon15:c.1888+1G>T;NM_198129:exon15:c.1888+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1888+1G>T;ENST00000399516:exon15:c.1888+1G>T)	.	.	0.999989263107695	0.936
18	21394468	T	A	18	23814504	y	y	splicing	LAMA3(NM_001127717:exon15:c.1888+2T>A;NM_198129:exon15:c.1888+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1888+2T>A;ENST00000399516:exon15:c.1888+2T>A)	.	.	0.999988247793601	0.928
18	21394468	T	C	18	23814504	y	y	splicing	LAMA3(NM_001127717:exon15:c.1888+2T>C;NM_198129:exon15:c.1888+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1888+2T>C;ENST00000399516:exon15:c.1888+2T>C)	.	.	0.992783534660112	0.688
18	21394468	T	G	18	23814504	y	y	splicing	LAMA3(NM_001127717:exon15:c.1888+2T>G;NM_198129:exon15:c.1888+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon15:c.1888+2T>G;ENST00000399516:exon15:c.1888+2T>G)	.	.	0.999988247793601	0.928
18	21394469	A	C	18	23814505	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.506083032151525	0.502
18	21394469	A	G	18	23814505	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0411447908533281	0.254
18	21394469	A	T	18	23814505	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.720295897620816	0.56
18	21394470	G	A	18	23814506	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.41356465746432E-4	0.03
18	21394470	G	C	18	23814506	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.27430607419721E-5	0.012
18	21394470	G	T	18	23814506	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.04737170891784E-4	0.008
18	21394471	G	A	18	23814507	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.754030512231413	0.442
18	21394471	G	C	18	23814507	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.963468284026132	0.584
18	21394471	G	T	18	23814507	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.984299981484393	0.52
18	21394472	T	A	18	23814508	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00373567731626398	0.236
18	21394472	T	C	18	23814508	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00849113463471277	0.26
18	21394472	T	G	18	23814508	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00120500117917514	0.17
18	21394473	T	A	18	23814509	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.49998614230276E-4	0.004
18	21394473	T	C	18	23814509	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.35144330527077E-4	0.004
18	21394473	T	G	18	23814509	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.15534999524784E-4	0.004
18	21394474	T	A	18	23814510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.60772493245841E-5	0.002
18	21394474	T	C	18	23814510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.53674257853194E-5	0.0
18	21394474	T	G	18	23814510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.38606056986217E-5	0.0
18	21395140	T	A	18	23815176	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.716928018957694	0.548
18	21395140	T	C	18	23815176	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.181369346114976	0.416
18	21395140	T	G	18	23815176	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.722989566933868	0.546
18	21395141	T	A	18	23815177	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.892821099965314	0.7
18	21395141	T	C	18	23815177	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.454236523267094	0.38
18	21395141	T	G	18	23815177	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.875610907926889	0.68
18	21395142	A	C	18	23815178	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.67700066376465E-5	0.034
18	21395142	A	G	18	23815178	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.20593788012935E-5	0.032
18	21395142	A	T	18	23815178	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09547130779363E-5	0.022
18	21395143	T	A	18	23815179	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00609514086924606	0.218
18	21395143	T	C	18	23815179	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.2923900506688E-4	0.006
18	21395143	T	G	18	23815179	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999884313596907	0.954
18	21395144	C	A	18	23815180	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00102598468606787	0.026
18	21395144	C	G	18	23815180	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.34639381430724E-4	0.03
18	21395144	C	T	18	23815180	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.74205642041828E-5	0.0
18	21395145	T	A	18	23815181	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0118554033544376	0.152
18	21395145	T	C	18	23815181	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0013464292420132	0.038
18	21395145	T	G	18	23815181	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00726472447108199	0.148
18	21395146	C	A	18	23815182	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00349796484266957	0.102
18	21395146	C	G	18	23815182	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0045262565508959	0.126
18	21395146	C	T	18	23815182	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.20945509603367E-5	0.02
18	21395147	C	A	18	23815183	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.03545659333055E-4	0.026
18	21395147	C	G	18	23815183	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00325326802438878	0.08
18	21395147	C	T	18	23815183	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.9238943807264E-5	0.006
18	21395148	A	C	18	23815184	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.23980655476692E-5	0.006
18	21395148	A	G	18	23815184	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.52980255211855E-5	0.012
18	21395148	A	T	18	23815184	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.52798228845828E-4	0.01
18	21395149	C	A	18	23815185	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995629458815247	0.862
18	21395149	C	G	18	23815185	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999614732616195	0.976
18	21395149	C	T	18	23815185	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0635203051678737	0.124
18	21395150	A	C	18	23815186	y	y	splicing	LAMA3(NM_001127717:exon16:c.1889-2A>C;NM_198129:exon16:c.1889-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1889-2A>C;ENST00000399516:exon16:c.1889-2A>C)	.	.	0.999989917668626	0.926
18	21395150	A	G	18	23815186	y	y	splicing	LAMA3(NM_001127717:exon16:c.1889-2A>G;NM_198129:exon16:c.1889-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1889-2A>G;ENST00000399516:exon16:c.1889-2A>G)	.	.	0.999989917668626	0.926
18	21395150	A	T	18	23815186	y	y	splicing	LAMA3(NM_001127717:exon16:c.1889-2A>T;NM_198129:exon16:c.1889-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1889-2A>T;ENST00000399516:exon16:c.1889-2A>T)	.	.	0.999989917668626	0.928
18	21395151	G	A	18	23815187	y	y	splicing	LAMA3(NM_001127717:exon16:c.1889-1G>A;NM_198129:exon16:c.1889-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1889-1G>A;ENST00000399516:exon16:c.1889-1G>A)	.	.	0.999981760802075	0.936
18	21395151	G	C	18	23815187	y	y	splicing	LAMA3(NM_001127717:exon16:c.1889-1G>C;NM_198129:exon16:c.1889-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1889-1G>C;ENST00000399516:exon16:c.1889-1G>C)	.	.	0.999981760802075	0.89
18	21395151	G	T	18	23815187	y	y	splicing	LAMA3(NM_001127717:exon16:c.1889-1G>T;NM_198129:exon16:c.1889-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1889-1G>T;ENST00000399516:exon16:c.1889-1G>T)	.	.	0.999981760802075	0.936
18	21395152	A	C	18	23815188	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.A1889C:p.E630A;LAMA3:NM_001127717:exon16:c.A1889C:p.E630A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1889C:p.E630A;ENSG00000053747:ENST00000313654:exon16:c.A1889C:p.E630A;	0.00146402904647333	0.016
18	21395152	A	G	18	23815188	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.A1889G:p.E630G;LAMA3:NM_001127717:exon16:c.A1889G:p.E630G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1889G:p.E630G;ENSG00000053747:ENST00000313654:exon16:c.A1889G:p.E630G;	2.11923490442091E-4	0.004
18	21395152	A	T	18	23815188	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.A1889T:p.E630V;LAMA3:NM_001127717:exon16:c.A1889T:p.E630V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1889T:p.E630V;ENSG00000053747:ENST00000313654:exon16:c.A1889T:p.E630V;	0.0200989450432606	0.056
18	21395153	A	C	18	23815189	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.A1890C:p.E630D;LAMA3:NM_001127717:exon16:c.A1890C:p.E630D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1890C:p.E630D;ENSG00000053747:ENST00000313654:exon16:c.A1890C:p.E630D;	7.37712425272917E-4	0.018
18	21395153	A	G	18	23815189	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon16:c.A1890G:p.E630E;LAMA3:NM_001127717:exon16:c.A1890G:p.E630E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1890G:p.E630E;ENSG00000053747:ENST00000313654:exon16:c.A1890G:p.E630E;	6.25820216295231E-5	0.004
18	21395153	A	T	18	23815189	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.A1890T:p.E630D;LAMA3:NM_001127717:exon16:c.A1890T:p.E630D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1890T:p.E630D;ENSG00000053747:ENST00000313654:exon16:c.A1890T:p.E630D;	6.62749081501174E-5	0.006
18	21395202	C	A	18	23815238	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.C1939A:p.Q647K;LAMA3:NM_001127717:exon16:c.C1939A:p.Q647K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.C1939A:p.Q647K;ENSG00000053747:ENST00000313654:exon16:c.C1939A:p.Q647K;	0.946246340972329	0.696
18	21395202	C	G	18	23815238	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.C1939G:p.Q647E;LAMA3:NM_001127717:exon16:c.C1939G:p.Q647E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.C1939G:p.Q647E;ENSG00000053747:ENST00000313654:exon16:c.C1939G:p.Q647E;	0.923921102754461	0.64
18	21395202	C	T	18	23815238	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon16:c.C1939T:p.Q647X;LAMA3:NM_001127717:exon16:c.C1939T:p.Q647X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon16:c.C1939T:p.Q647X;ENSG00000053747:ENST00000313654:exon16:c.C1939T:p.Q647X;	0.999616075675749	0.982
18	21395203	A	C	18	23815239	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.A1940C:p.Q647P;LAMA3:NM_001127717:exon16:c.A1940C:p.Q647P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1940C:p.Q647P;ENSG00000053747:ENST00000313654:exon16:c.A1940C:p.Q647P;	0.999711220730667	0.998
18	21395203	A	G	18	23815239	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.A1940G:p.Q647R;LAMA3:NM_001127717:exon16:c.A1940G:p.Q647R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1940G:p.Q647R;ENSG00000053747:ENST00000313654:exon16:c.A1940G:p.Q647R;	0.999923112087285	1.0
18	21395203	A	T	18	23815239	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.A1940T:p.Q647L;LAMA3:NM_001127717:exon16:c.A1940T:p.Q647L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.A1940T:p.Q647L;ENSG00000053747:ENST00000313654:exon16:c.A1940T:p.Q647L;	0.999872232158506	1.0
18	21395204	G	A	18	23815240	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon16:c.G1941A:p.Q647Q;LAMA3:NM_001127717:exon16:c.G1941A:p.Q647Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.G1941A:p.Q647Q;ENSG00000053747:ENST00000313654:exon16:c.G1941A:p.Q647Q;	0.999941185612459	0.996
18	21395204	G	C	18	23815240	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.G1941C:p.Q647H;LAMA3:NM_001127717:exon16:c.G1941C:p.Q647H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.G1941C:p.Q647H;ENSG00000053747:ENST00000313654:exon16:c.G1941C:p.Q647H;	0.999997690078459	1.0
18	21395204	G	T	18	23815240	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon16:c.G1941T:p.Q647H;LAMA3:NM_001127717:exon16:c.G1941T:p.Q647H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon16:c.G1941T:p.Q647H;ENSG00000053747:ENST00000313654:exon16:c.G1941T:p.Q647H;	0.99998427688678	1.0
18	21395205	G	A	18	23815241	y	y	splicing	LAMA3(NM_001127717:exon16:c.1941+1G>A;NM_198129:exon16:c.1941+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1941+1G>A;ENST00000399516:exon16:c.1941+1G>A)	.	.	0.999981760802075	0.948
18	21395205	G	C	18	23815241	y	y	splicing	LAMA3(NM_001127717:exon16:c.1941+1G>C;NM_198129:exon16:c.1941+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1941+1G>C;ENST00000399516:exon16:c.1941+1G>C)	.	.	0.999981760802075	0.948
18	21395205	G	T	18	23815241	y	y	splicing	LAMA3(NM_001127717:exon16:c.1941+1G>T;NM_198129:exon16:c.1941+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1941+1G>T;ENST00000399516:exon16:c.1941+1G>T)	.	.	0.999981760802075	0.948
18	21395206	T	A	18	23815242	y	y	splicing	LAMA3(NM_001127717:exon16:c.1941+2T>A;NM_198129:exon16:c.1941+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1941+2T>A;ENST00000399516:exon16:c.1941+2T>A)	.	.	0.999989917668626	0.948
18	21395206	T	C	18	23815242	y	y	splicing	LAMA3(NM_001127717:exon16:c.1941+2T>C;NM_198129:exon16:c.1941+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1941+2T>C;ENST00000399516:exon16:c.1941+2T>C)	.	.	0.993179459523591	0.668
18	21395206	T	G	18	23815242	y	y	splicing	LAMA3(NM_001127717:exon16:c.1941+2T>G;NM_198129:exon16:c.1941+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon16:c.1941+2T>G;ENST00000399516:exon16:c.1941+2T>G)	.	.	0.999989917668626	0.948
18	21395207	A	C	18	23815243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999875368671767	0.974
18	21395207	A	G	18	23815243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991596295341837	0.792
18	21395207	A	T	18	23815243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999509741405566	0.95
18	21395208	A	C	18	23815244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.529031954248102	0.528
18	21395208	A	G	18	23815244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.865946494089778	0.568
18	21395208	A	T	18	23815244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.98031140350844	0.742
18	21395209	A	C	18	23815245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.1217989768786E-5	0.016
18	21395209	A	G	18	23815245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.31227882009531E-5	0.026
18	21395209	A	T	18	23815245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20442182071095E-4	0.022
18	21395210	G	A	18	23815246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.0371690831671E-4	0.026
18	21395210	G	C	18	23815246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0087790193739278	0.118
18	21395210	G	T	18	23815246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.11767431671779E-4	0.026
18	21395211	T	A	18	23815247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00111593692973128	0.008
18	21395211	T	C	18	23815247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00111593692973128	0.02
18	21395211	T	G	18	23815247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0012535857078485	0.026
18	21395212	G	A	18	23815248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00274601258645395	0.016
18	21395212	G	C	18	23815248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00459000507452949	0.122
18	21395212	G	T	18	23815248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00318564493463215	0.1
18	21395420	A	C	18	23815456	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.04017561250877E-5	0.002
18	21395420	A	G	18	23815456	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.50659033075472E-5	0.012
18	21395420	A	T	18	23815456	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.92805499348865E-5	0.0
18	21395421	C	A	18	23815457	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45557687765385E-4	0.074
18	21395421	C	G	18	23815457	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994557577479002	0.96
18	21395421	C	T	18	23815457	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.2471037033972E-5	0.004
18	21395422	T	A	18	23815458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99993646571006	0.988
18	21395422	T	C	18	23815458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.23947977103913E-4	0.056
18	21395422	T	G	18	23815458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0262261274799368	0.406
18	21395423	G	A	18	23815459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.67625676982613E-4	0.016
18	21395423	G	C	18	23815459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.37487841013279E-4	0.016
18	21395423	G	T	18	23815459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.53290818942099E-4	0.004
18	21395424	T	A	18	23815460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0558981464761586	0.278
18	21395424	T	C	18	23815460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00163071626978559	0.076
18	21395424	T	G	18	23815460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0526247766831421	0.344
18	21395425	T	A	18	23815461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00501246506762943	0.114
18	21395425	T	C	18	23815461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.22748300469448E-4	0.014
18	21395425	T	G	18	23815461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00436104465396229	0.096
18	21395426	C	A	18	23815462	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.745259351632212	0.504
18	21395426	C	G	18	23815462	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.784793287985613	0.47
18	21395426	C	T	18	23815462	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00276164999805966	0.09
18	21395427	T	A	18	23815463	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999518950517762	0.938
18	21395427	T	C	18	23815463	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00112649502636592	0.178
18	21395427	T	G	18	23815463	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.646965372806065	0.424
18	21395428	G	A	18	23815464	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.10808365457687E-4	0.002
18	21395428	G	C	18	23815464	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.35200402872968E-5	0.002
18	21395428	G	T	18	23815464	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.53503628182528E-5	0.0
18	21395429	C	A	18	23815465	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.982031207265663	0.754
18	21395429	C	G	18	23815465	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999649352868119	0.974
18	21395429	C	T	18	23815465	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00825762711270529	0.05
18	21395430	A	C	18	23815466	y	y	splicing	LAMA3(NM_001127717:exon17:c.1942-2A>C;NM_198129:exon17:c.1942-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.1942-2A>C;ENST00000399516:exon17:c.1942-2A>C)	.	.	0.999988247793601	0.93
18	21395430	A	G	18	23815466	y	y	splicing	LAMA3(NM_001127717:exon17:c.1942-2A>G;NM_198129:exon17:c.1942-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.1942-2A>G;ENST00000399516:exon17:c.1942-2A>G)	.	.	0.999988247793601	0.93
18	21395430	A	T	18	23815466	y	y	splicing	LAMA3(NM_001127717:exon17:c.1942-2A>T;NM_198129:exon17:c.1942-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.1942-2A>T;ENST00000399516:exon17:c.1942-2A>T)	.	.	0.999988247793601	0.93
18	21395431	G	A	18	23815467	y	y	splicing	LAMA3(NM_001127717:exon17:c.1942-1G>A;NM_198129:exon17:c.1942-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.1942-1G>A;ENST00000399516:exon17:c.1942-1G>A)	.	.	0.999990361384395	0.936
18	21395431	G	C	18	23815467	y	y	splicing	LAMA3(NM_001127717:exon17:c.1942-1G>C;NM_198129:exon17:c.1942-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.1942-1G>C;ENST00000399516:exon17:c.1942-1G>C)	.	.	0.999990361384395	0.936
18	21395431	G	T	18	23815467	y	y	splicing	LAMA3(NM_001127717:exon17:c.1942-1G>T;NM_198129:exon17:c.1942-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.1942-1G>T;ENST00000399516:exon17:c.1942-1G>T)	.	.	0.999990361384395	0.936
18	21395432	G	A	18	23815468	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.G1942A:p.G648R;LAMA3:NM_001127717:exon17:c.G1942A:p.G648R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.G1942A:p.G648R;ENSG00000053747:ENST00000313654:exon17:c.G1942A:p.G648R;	0.00294227170736216	0.166
18	21395432	G	C	18	23815468	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.G1942C:p.G648R;LAMA3:NM_001127717:exon17:c.G1942C:p.G648R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.G1942C:p.G648R;ENSG00000053747:ENST00000313654:exon17:c.G1942C:p.G648R;	0.0050784541584935	0.332
18	21395432	G	T	18	23815468	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon17:c.G1942T:p.G648X;LAMA3:NM_001127717:exon17:c.G1942T:p.G648X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon17:c.G1942T:p.G648X;ENSG00000053747:ENST00000313654:exon17:c.G1942T:p.G648X;	0.985173896100022	0.64
18	21395433	G	A	18	23815469	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.G1943A:p.G648E;LAMA3:NM_001127717:exon17:c.G1943A:p.G648E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.G1943A:p.G648E;ENSG00000053747:ENST00000313654:exon17:c.G1943A:p.G648E;	1.71678354391177E-4	0.002
18	21395433	G	C	18	23815469	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.G1943C:p.G648A;LAMA3:NM_001127717:exon17:c.G1943C:p.G648A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.G1943C:p.G648A;ENSG00000053747:ENST00000313654:exon17:c.G1943C:p.G648A;	3.26028159205757E-5	0.0
18	21395433	G	T	18	23815469	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.G1943T:p.G648V;LAMA3:NM_001127717:exon17:c.G1943T:p.G648V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.G1943T:p.G648V;ENSG00000053747:ENST00000313654:exon17:c.G1943T:p.G648V;	1.39345198708047E-4	0.008
18	21395535	A	C	18	23815571	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.A2045C:p.Q682P;LAMA3:NM_001127717:exon17:c.A2045C:p.Q682P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.A2045C:p.Q682P;ENSG00000053747:ENST00000313654:exon17:c.A2045C:p.Q682P;	0.0517388553591275	0.248
18	21395535	A	G	18	23815571	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.A2045G:p.Q682R;LAMA3:NM_001127717:exon17:c.A2045G:p.Q682R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.A2045G:p.Q682R;ENSG00000053747:ENST00000313654:exon17:c.A2045G:p.Q682R;	0.00425716168577924	0.1
18	21395535	A	T	18	23815571	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.A2045T:p.Q682L;LAMA3:NM_001127717:exon17:c.A2045T:p.Q682L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.A2045T:p.Q682L;ENSG00000053747:ENST00000313654:exon17:c.A2045T:p.Q682L;	0.284696751804395	0.492
18	21395536	A	C	18	23815572	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.A2046C:p.Q682H;LAMA3:NM_001127717:exon17:c.A2046C:p.Q682H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.A2046C:p.Q682H;ENSG00000053747:ENST00000313654:exon17:c.A2046C:p.Q682H;	0.992902295885961	0.822
18	21395536	A	G	18	23815572	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon17:c.A2046G:p.Q682Q;LAMA3:NM_001127717:exon17:c.A2046G:p.Q682Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.A2046G:p.Q682Q;ENSG00000053747:ENST00000313654:exon17:c.A2046G:p.Q682Q;	0.99511890780958	0.916
18	21395536	A	T	18	23815572	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.A2046T:p.Q682H;LAMA3:NM_001127717:exon17:c.A2046T:p.Q682H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.A2046T:p.Q682H;ENSG00000053747:ENST00000313654:exon17:c.A2046T:p.Q682H;	0.998989672218803	0.948
18	21395537	G	A	18	23815573	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.G2047A:p.G683R;LAMA3:NM_001127717:exon17:c.G2047A:p.G683R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.G2047A:p.G683R;ENSG00000053747:ENST00000313654:exon17:c.G2047A:p.G683R;	0.999980316202424	0.984
18	21395537	G	C	18	23815573	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.G2047C:p.G683R;LAMA3:NM_001127717:exon17:c.G2047C:p.G683R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.G2047C:p.G683R;ENSG00000053747:ENST00000313654:exon17:c.G2047C:p.G683R;	0.999997406233009	0.99
18	21395537	G	T	18	23815573	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon17:c.G2047T:p.G683W;LAMA3:NM_001127717:exon17:c.G2047T:p.G683W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon17:c.G2047T:p.G683W;ENSG00000053747:ENST00000313654:exon17:c.G2047T:p.G683W;	0.999977964802946	0.978
18	21395538	G	A	18	23815574	y	y	splicing	LAMA3(NM_001127717:exon17:c.2047+1G>A;NM_198129:exon17:c.2047+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.2047+1G>A;ENST00000399516:exon17:c.2047+1G>A)	.	.	0.999990361384395	0.938
18	21395538	G	C	18	23815574	y	y	splicing	LAMA3(NM_001127717:exon17:c.2047+1G>C;NM_198129:exon17:c.2047+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.2047+1G>C;ENST00000399516:exon17:c.2047+1G>C)	.	.	0.999990361384395	0.938
18	21395538	G	T	18	23815574	y	y	splicing	LAMA3(NM_001127717:exon17:c.2047+1G>T;NM_198129:exon17:c.2047+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.2047+1G>T;ENST00000399516:exon17:c.2047+1G>T)	.	.	0.999990361384395	0.938
18	21395539	T	A	18	23815575	y	y	splicing	LAMA3(NM_001127717:exon17:c.2047+2T>A;NM_198129:exon17:c.2047+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.2047+2T>A;ENST00000399516:exon17:c.2047+2T>A)	.	.	0.999988247793601	0.932
18	21395539	T	C	18	23815575	y	y	splicing	LAMA3(NM_001127717:exon17:c.2047+2T>C;NM_198129:exon17:c.2047+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.2047+2T>C;ENST00000399516:exon17:c.2047+2T>C)	.	.	0.99340600729494	0.72
18	21395539	T	G	18	23815575	y	y	splicing	LAMA3(NM_001127717:exon17:c.2047+2T>G;NM_198129:exon17:c.2047+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon17:c.2047+2T>G;ENST00000399516:exon17:c.2047+2T>G)	.	.	0.999988247793601	0.932
18	21395540	A	C	18	23815576	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999138850473837	0.842
18	21395540	A	G	18	23815576	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.296780858676334	0.492
18	21395540	A	T	18	23815576	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997848859146551	0.734
18	21395541	A	C	18	23815577	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.357491183131764	0.384
18	21395541	A	G	18	23815577	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.561610981205122	0.432
18	21395541	A	T	18	23815577	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.348976716786261	0.394
18	21395542	A	C	18	23815578	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.41104143763245E-5	0.044
18	21395542	A	G	18	23815578	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.52432795620234E-5	0.022
18	21395542	A	T	18	23815578	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45112873251475E-4	0.024
18	21395543	T	A	18	23815579	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00645427545735005	0.102
18	21395543	T	C	18	23815579	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0032047074864521	0.09
18	21395543	T	G	18	23815579	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.14888773309212E-4	0.08
18	21395544	A	C	18	23815580	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.64905445396362E-5	0.0
18	21395544	A	G	18	23815580	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.98222558362927E-5	0.0
18	21395544	A	T	18	23815580	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.77656218050195E-4	0.0
18	21395545	A	C	18	23815581	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.13407590920128E-4	0.158
18	21395545	A	G	18	23815581	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.68090064941924E-4	0.136
18	21395545	A	T	18	23815581	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.72951386292296E-5	0.158
18	21396340	C	A	18	23816376	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.14948235245811E-4	0.04
18	21396340	C	G	18	23816376	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.08108637520475E-4	0.014
18	21396340	C	T	18	23816376	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.69818239339698E-5	0.0
18	21396341	C	A	18	23816377	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00101521757903478	0.07
18	21396341	C	G	18	23816377	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.89645646527704E-4	0.01
18	21396341	C	T	18	23816377	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.05386857383127E-5	0.0
18	21396342	T	A	18	23816378	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999942569987037	0.96
18	21396342	T	C	18	23816378	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.17651004305882E-5	0.0
18	21396342	T	G	18	23816378	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0298477107776025	0.298
18	21396343	G	A	18	23816379	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998045655830033	0.956
18	21396343	G	C	18	23816379	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09183340450516E-4	0.004
18	21396343	G	T	18	23816379	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.60069945334911E-4	0.0
18	21396344	G	A	18	23816380	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.62629453565509E-5	0.004
18	21396344	G	C	18	23816380	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17566939307607E-5	0.006
18	21396344	G	T	18	23816380	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.18097730871686E-5	0.002
18	21396345	C	A	18	23816381	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00409246904513589	0.15
18	21396345	C	G	18	23816381	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.92608400676723E-4	0.128
18	21396345	C	T	18	23816381	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.76702614506043E-4	0.014
18	21396346	T	A	18	23816382	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.363268676572766	0.388
18	21396346	T	C	18	23816382	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.05907818794787E-4	0.012
18	21396346	T	G	18	23816382	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.191200232446966	0.38
18	21396347	T	A	18	23816383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.199028554146469	0.384
18	21396347	T	C	18	23816383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.77370823806896E-5	0.008
18	21396347	T	G	18	23816383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.256988712138898	0.348
18	21396348	T	A	18	23816384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.58562799074534E-5	0.002
18	21396348	T	C	18	23816384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.17213305955493E-5	0.0
18	21396348	T	G	18	23816384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.76122081248621E-5	0.0
18	21396349	C	A	18	23816385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.197226528766616	0.49
18	21396349	C	G	18	23816385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999879037285834	0.946
18	21396349	C	T	18	23816385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.46125131950098E-4	0.096
18	21396350	A	C	18	23816386	y	y	splicing	LAMA3(NM_001127717:exon18:c.2048-2A>C;NM_198129:exon18:c.2048-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2048-2A>C;ENST00000399516:exon18:c.2048-2A>C)	.	.	0.99994568797423	0.928
18	21396350	A	G	18	23816386	y	y	splicing	LAMA3(NM_001127717:exon18:c.2048-2A>G;NM_198129:exon18:c.2048-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2048-2A>G;ENST00000399516:exon18:c.2048-2A>G)	.	.	0.99994568797423	0.928
18	21396350	A	T	18	23816386	y	y	splicing	LAMA3(NM_001127717:exon18:c.2048-2A>T;NM_198129:exon18:c.2048-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2048-2A>T;ENST00000399516:exon18:c.2048-2A>T)	.	.	0.999978952611685	0.93
18	21396351	G	A	18	23816387	y	y	splicing	LAMA3(NM_001127717:exon18:c.2048-1G>A;NM_198129:exon18:c.2048-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2048-1G>A;ENST00000399516:exon18:c.2048-1G>A)	.	.	0.999984783681139	0.934
18	21396351	G	C	18	23816387	y	y	splicing	LAMA3(NM_001127717:exon18:c.2048-1G>C;NM_198129:exon18:c.2048-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2048-1G>C;ENST00000399516:exon18:c.2048-1G>C)	.	.	0.999980428708689	0.93
18	21396351	G	T	18	23816387	y	y	splicing	LAMA3(NM_001127717:exon18:c.2048-1G>T;NM_198129:exon18:c.2048-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2048-1G>T;ENST00000399516:exon18:c.2048-1G>T)	.	.	0.999980428708689	0.936
18	21396352	G	A	18	23816388	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.G2048A:p.G683E;LAMA3:NM_001127717:exon18:c.G2048A:p.G683E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2048A:p.G683E;ENSG00000053747:ENST00000313654:exon18:c.G2048A:p.G683E;	0.996304324222701	0.722
18	21396352	G	C	18	23816388	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.G2048C:p.G683A;LAMA3:NM_001127717:exon18:c.G2048C:p.G683A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2048C:p.G683A;ENSG00000053747:ENST00000313654:exon18:c.G2048C:p.G683A;	0.998792369076994	0.92
18	21396352	G	T	18	23816388	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.G2048T:p.G683V;LAMA3:NM_001127717:exon18:c.G2048T:p.G683V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2048T:p.G683V;ENSG00000053747:ENST00000313654:exon18:c.G2048T:p.G683V;	0.998855853069038	0.948
18	21396353	G	A	18	23816389	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon18:c.G2049A:p.G683G;LAMA3:NM_001127717:exon18:c.G2049A:p.G683G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2049A:p.G683G;ENSG00000053747:ENST00000313654:exon18:c.G2049A:p.G683G;	4.36142434713993E-5	0.01
18	21396353	G	C	18	23816389	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon18:c.G2049C:p.G683G;LAMA3:NM_001127717:exon18:c.G2049C:p.G683G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2049C:p.G683G;ENSG00000053747:ENST00000313654:exon18:c.G2049C:p.G683G;	8.28311238440441E-5	0.008
18	21396353	G	T	18	23816389	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon18:c.G2049T:p.G683G;LAMA3:NM_001127717:exon18:c.G2049T:p.G683G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2049T:p.G683G;ENSG00000053747:ENST00000313654:exon18:c.G2049T:p.G683G;	1.6262849731022E-5	0.008
18	21396449	G	A	18	23816485	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon18:c.G2145A:p.Q715Q;LAMA3:NM_001127717:exon18:c.G2145A:p.Q715Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2145A:p.Q715Q;ENSG00000053747:ENST00000313654:exon18:c.G2145A:p.Q715Q;	2.17543577107129E-4	0.024
18	21396449	G	C	18	23816485	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.G2145C:p.Q715H;LAMA3:NM_001127717:exon18:c.G2145C:p.Q715H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2145C:p.Q715H;ENSG00000053747:ENST00000313654:exon18:c.G2145C:p.Q715H;	9.40391034522639E-4	0.07
18	21396449	G	T	18	23816485	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.G2145T:p.Q715H;LAMA3:NM_001127717:exon18:c.G2145T:p.Q715H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2145T:p.Q715H;ENSG00000053747:ENST00000313654:exon18:c.G2145T:p.Q715H;	0.00562731719357236	0.228
18	21396450	C	A	18	23816486	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon18:c.C2146A:p.R716R;LAMA3:NM_001127717:exon18:c.C2146A:p.R716R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.C2146A:p.R716R;ENSG00000053747:ENST00000313654:exon18:c.C2146A:p.R716R;	5.35921699160498E-5	0.054
18	21396450	C	G	18	23816486	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.C2146G:p.R716G;LAMA3:NM_001127717:exon18:c.C2146G:p.R716G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.C2146G:p.R716G;ENSG00000053747:ENST00000313654:exon18:c.C2146G:p.R716G;	4.77548751605432E-4	0.016
18	21396450	C	T	18	23816486	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.C2146T:p.R716W;LAMA3:NM_001127717:exon18:c.C2146T:p.R716W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.C2146T:p.R716W;ENSG00000053747:ENST00000313654:exon18:c.C2146T:p.R716W;	1.43709229087579E-4	0.038
18	21396451	G	A	18	23816487	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.G2147A:p.R716Q;LAMA3:NM_001127717:exon18:c.G2147A:p.R716Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2147A:p.R716Q;ENSG00000053747:ENST00000313654:exon18:c.G2147A:p.R716Q;	0.988747429815282	0.81
18	21396451	G	C	18	23816487	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.G2147C:p.R716P;LAMA3:NM_001127717:exon18:c.G2147C:p.R716P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2147C:p.R716P;ENSG00000053747:ENST00000313654:exon18:c.G2147C:p.R716P;	0.997845064271561	0.626
18	21396451	G	T	18	23816487	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon18:c.G2147T:p.R716L;LAMA3:NM_001127717:exon18:c.G2147T:p.R716L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon18:c.G2147T:p.R716L;ENSG00000053747:ENST00000313654:exon18:c.G2147T:p.R716L;	0.993830859125627	0.766
18	21396452	G	A	18	23816488	y	y	splicing	LAMA3(NM_001127717:exon18:c.2147+1G>A;NM_198129:exon18:c.2147+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2147+1G>A;ENST00000399516:exon18:c.2147+1G>A)	.	.	0.999976137096505	0.928
18	21396452	G	C	18	23816488	y	y	splicing	LAMA3(NM_001127717:exon18:c.2147+1G>C;NM_198129:exon18:c.2147+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2147+1G>C;ENST00000399516:exon18:c.2147+1G>C)	.	.	0.999938422912956	0.93
18	21396452	G	T	18	23816488	y	y	splicing	LAMA3(NM_001127717:exon18:c.2147+1G>T;NM_198129:exon18:c.2147+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2147+1G>T;ENST00000399516:exon18:c.2147+1G>T)	.	.	0.999938422912956	0.926
18	21396453	T	A	18	23816489	y	y	splicing	LAMA3(NM_001127717:exon18:c.2147+2T>A;NM_198129:exon18:c.2147+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2147+2T>A;ENST00000399516:exon18:c.2147+2T>A)	.	.	0.99994568797423	0.926
18	21396453	T	C	18	23816489	y	y	splicing	LAMA3(NM_001127717:exon18:c.2147+2T>C;NM_198129:exon18:c.2147+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2147+2T>C;ENST00000399516:exon18:c.2147+2T>C)	.	.	0.999509554936914	0.88
18	21396453	T	G	18	23816489	y	y	splicing	LAMA3(NM_001127717:exon18:c.2147+2T>G;NM_198129:exon18:c.2147+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon18:c.2147+2T>G;ENST00000399516:exon18:c.2147+2T>G)	.	.	0.99994568797423	0.928
18	21396454	G	A	18	23816490	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.76468182231519E-4	0.044
18	21396454	G	C	18	23816490	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992611115545017	0.676
18	21396454	G	T	18	23816490	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.964257623989794	0.574
18	21396455	A	C	18	23816491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.761081688600605	0.49
18	21396455	A	G	18	23816491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.879925248218793	0.758
18	21396455	A	T	18	23816491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9663001120965	0.692
18	21396456	G	A	18	23816492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99804606788559	0.84
18	21396456	G	C	18	23816492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99984487911025	0.886
18	21396456	G	T	18	23816492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999949502087915	0.962
18	21396457	T	A	18	23816493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.593509736382715	0.48
18	21396457	T	C	18	23816493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.114236296026085	0.45
18	21396457	T	G	18	23816493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0587818100166485	0.39
18	21396458	C	A	18	23816494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58410968635947E-5	0.0
18	21396458	C	G	18	23816494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.8209378316889E-5	0.014
18	21396458	C	T	18	23816494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.86732681022983E-5	0.0
18	21396459	T	A	18	23816495	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.52293868212492E-5	0.0
18	21396459	T	C	18	23816495	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.30477579161392E-5	0.0
18	21396459	T	G	18	23816495	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.585416616557E-5	0.002
18	21399793	T	A	18	23819829	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0199693338095761	0.47
18	21399793	T	C	18	23819829	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.38325342673333E-5	0.006
18	21399793	T	G	18	23819829	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.99690273217097E-4	0.276
18	21399794	A	C	18	23819830	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.55851216052398E-5	0.01
18	21399794	A	G	18	23819830	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.06324929795061E-5	0.002
18	21399794	A	T	18	23819830	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.7859530241908E-5	0.04
18	21399795	A	C	18	23819831	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.08332002171532E-5	0.0
18	21399795	A	G	18	23819831	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993667057703569	0.89
18	21399795	A	T	18	23819831	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.45727065630694E-5	0.006
18	21399796	T	A	18	23819832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0270602062258556	0.334
18	21399796	T	C	18	23819832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.99055127257431E-5	0.038
18	21399796	T	G	18	23819832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999707959601281	0.95
18	21399797	T	A	18	23819833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.430294168416369	0.584
18	21399797	T	C	18	23819833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.64880124311417E-4	0.068
18	21399797	T	G	18	23819833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.849392906020628	0.592
18	21399798	A	C	18	23819834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.55141896164265E-5	0.022
18	21399798	A	G	18	23819834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.31585036356081E-5	0.006
18	21399798	A	T	18	23819834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.16103548712292E-5	0.038
18	21399799	T	A	18	23819835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.983612868191143	0.866
18	21399799	T	C	18	23819835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.71344553792404E-5	0.022
18	21399799	T	G	18	23819835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.983612868191143	0.864
18	21399800	G	A	18	23819836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4054928494863E-4	0.036
18	21399800	G	C	18	23819836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.60283418007628E-5	0.002
18	21399800	G	T	18	23819836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.07293582030428E-5	0.002
18	21399801	A	C	18	23819837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00182202651833326	0.046
18	21399801	A	G	18	23819837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00243986415709624	0.09
18	21399801	A	T	18	23819837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0045241284103404	0.118
18	21399802	A	C	18	23819838	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00125759512785871	0.106
18	21399802	A	G	18	23819838	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0613870876757808	0.242
18	21399802	A	T	18	23819838	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00121126476237323	0.04
18	21399803	A	C	18	23819839	y	y	splicing	LAMA3(NM_001127717:exon19:c.2148-2A>C;NM_198129:exon19:c.2148-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2148-2A>C;ENST00000399516:exon19:c.2148-2A>C)	.	.	0.999933834912627	0.888
18	21399803	A	G	18	23819839	y	y	splicing	LAMA3(NM_001127717:exon19:c.2148-2A>G;NM_198129:exon19:c.2148-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2148-2A>G;ENST00000399516:exon19:c.2148-2A>G)	.	.	0.999933834912627	0.888
18	21399803	A	T	18	23819839	y	y	splicing	LAMA3(NM_001127717:exon19:c.2148-2A>T;NM_198129:exon19:c.2148-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2148-2A>T;ENST00000399516:exon19:c.2148-2A>T)	.	.	0.999933834912627	0.888
18	21399804	G	A	18	23819840	y	y	splicing	LAMA3(NM_001127717:exon19:c.2148-1G>A;NM_198129:exon19:c.2148-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2148-1G>A;ENST00000399516:exon19:c.2148-1G>A)	.	.	0.999978115769202	0.88
18	21399804	G	C	18	23819840	y	y	splicing	LAMA3(NM_001127717:exon19:c.2148-1G>C;NM_198129:exon19:c.2148-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2148-1G>C;ENST00000399516:exon19:c.2148-1G>C)	.	.	0.999978115769202	0.878
18	21399804	G	T	18	23819840	y	y	splicing	LAMA3(NM_001127717:exon19:c.2148-1G>T;NM_198129:exon19:c.2148-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2148-1G>T;ENST00000399516:exon19:c.2148-1G>T)	.	.	0.999978115769202	0.88
18	21399805	G	A	18	23819841	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon19:c.G2148A:p.R716R;LAMA3:NM_001127717:exon19:c.G2148A:p.R716R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.G2148A:p.R716R;ENSG00000053747:ENST00000313654:exon19:c.G2148A:p.R716R;	0.0339900219917479	0.326
18	21399805	G	C	18	23819841	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon19:c.G2148C:p.R716R;LAMA3:NM_001127717:exon19:c.G2148C:p.R716R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.G2148C:p.R716R;ENSG00000053747:ENST00000313654:exon19:c.G2148C:p.R716R;	0.0344334725791177	0.412
18	21399805	G	T	18	23819841	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon19:c.G2148T:p.R716R;LAMA3:NM_001127717:exon19:c.G2148T:p.R716R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.G2148T:p.R716R;ENSG00000053747:ENST00000313654:exon19:c.G2148T:p.R716R;	0.644827505334793	0.506
18	21399806	C	A	18	23819842	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.C2149A:p.P717T;LAMA3:NM_001127717:exon19:c.C2149A:p.P717T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.C2149A:p.P717T;ENSG00000053747:ENST00000313654:exon19:c.C2149A:p.P717T;	0.98717218294167	0.772
18	21399806	C	G	18	23819842	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.C2149G:p.P717A;LAMA3:NM_001127717:exon19:c.C2149G:p.P717A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.C2149G:p.P717A;ENSG00000053747:ENST00000313654:exon19:c.C2149G:p.P717A;	0.975152935325629	0.766
18	21399806	C	T	18	23819842	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.C2149T:p.P717S;LAMA3:NM_001127717:exon19:c.C2149T:p.P717S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.C2149T:p.P717S;ENSG00000053747:ENST00000313654:exon19:c.C2149T:p.P717S;	0.98451134481135	0.86
18	21399959	C	A	18	23819995	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.C2302A:p.Q768K;LAMA3:NM_001127717:exon19:c.C2302A:p.Q768K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.C2302A:p.Q768K;ENSG00000053747:ENST00000313654:exon19:c.C2302A:p.Q768K;	0.952046431358764	0.808
18	21399959	C	G	18	23819995	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.C2302G:p.Q768E;LAMA3:NM_001127717:exon19:c.C2302G:p.Q768E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.C2302G:p.Q768E;ENSG00000053747:ENST00000313654:exon19:c.C2302G:p.Q768E;	0.928250100891406	0.606
18	21399959	C	T	18	23819995	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon19:c.C2302T:p.Q768X;LAMA3:NM_001127717:exon19:c.C2302T:p.Q768X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon19:c.C2302T:p.Q768X;ENSG00000053747:ENST00000313654:exon19:c.C2302T:p.Q768X;	0.998870864682855	0.898
18	21399960	A	C	18	23819996	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.A2303C:p.Q768P;LAMA3:NM_001127717:exon19:c.A2303C:p.Q768P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.A2303C:p.Q768P;ENSG00000053747:ENST00000313654:exon19:c.A2303C:p.Q768P;	0.984931794817606	0.83
18	21399960	A	G	18	23819996	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.A2303G:p.Q768R;LAMA3:NM_001127717:exon19:c.A2303G:p.Q768R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.A2303G:p.Q768R;ENSG00000053747:ENST00000313654:exon19:c.A2303G:p.Q768R;	0.997191606496593	0.942
18	21399960	A	T	18	23819996	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.A2303T:p.Q768L;LAMA3:NM_001127717:exon19:c.A2303T:p.Q768L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.A2303T:p.Q768L;ENSG00000053747:ENST00000313654:exon19:c.A2303T:p.Q768L;	0.996962449074804	0.896
18	21399961	G	A	18	23819997	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon19:c.G2304A:p.Q768Q;LAMA3:NM_001127717:exon19:c.G2304A:p.Q768Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.G2304A:p.Q768Q;ENSG00000053747:ENST00000313654:exon19:c.G2304A:p.Q768Q;	0.998739686255029	0.91
18	21399961	G	C	18	23819997	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.G2304C:p.Q768H;LAMA3:NM_001127717:exon19:c.G2304C:p.Q768H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.G2304C:p.Q768H;ENSG00000053747:ENST00000313654:exon19:c.G2304C:p.Q768H;	0.999994173055256	0.966
18	21399961	G	T	18	23819997	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon19:c.G2304T:p.Q768H;LAMA3:NM_001127717:exon19:c.G2304T:p.Q768H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon19:c.G2304T:p.Q768H;ENSG00000053747:ENST00000313654:exon19:c.G2304T:p.Q768H;	0.99996535702164	0.984
18	21399962	G	A	18	23819998	y	y	splicing	LAMA3(NM_001127717:exon19:c.2304+1G>A;NM_198129:exon19:c.2304+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2304+1G>A;ENST00000399516:exon19:c.2304+1G>A)	.	.	0.999986675681007	0.928
18	21399962	G	C	18	23819998	y	y	splicing	LAMA3(NM_001127717:exon19:c.2304+1G>C;NM_198129:exon19:c.2304+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2304+1G>C;ENST00000399516:exon19:c.2304+1G>C)	.	.	0.999986675681007	0.928
18	21399962	G	T	18	23819998	y	y	splicing	LAMA3(NM_001127717:exon19:c.2304+1G>T;NM_198129:exon19:c.2304+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2304+1G>T;ENST00000399516:exon19:c.2304+1G>T)	.	.	0.999986675681007	0.928
18	21399963	T	A	18	23819999	y	y	splicing	LAMA3(NM_001127717:exon19:c.2304+2T>A;NM_198129:exon19:c.2304+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2304+2T>A;ENST00000399516:exon19:c.2304+2T>A)	.	.	0.999988247793601	0.93
18	21399963	T	C	18	23819999	y	y	splicing	LAMA3(NM_001127717:exon19:c.2304+2T>C;NM_198129:exon19:c.2304+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2304+2T>C;ENST00000399516:exon19:c.2304+2T>C)	.	.	0.99295178357233	0.63
18	21399963	T	G	18	23819999	y	y	splicing	LAMA3(NM_001127717:exon19:c.2304+2T>G;NM_198129:exon19:c.2304+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon19:c.2304+2T>G;ENST00000399516:exon19:c.2304+2T>G)	.	.	0.999988247793601	0.928
18	21399964	A	C	18	23820000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.705589041202466	0.638
18	21399964	A	G	18	23820000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.6959815655921E-4	0.068
18	21399964	A	T	18	23820000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.459180904882647	0.618
18	21399965	C	A	18	23820001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.45720965775202E-5	0.024
18	21399965	C	G	18	23820001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.00462262420467E-5	0.066
18	21399965	C	T	18	23820001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.0100013574212E-5	0.002
18	21399966	G	A	18	23820002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.942294100970329	0.5
18	21399966	G	C	18	23820002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.617972648817406	0.536
18	21399966	G	T	18	23820002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.914788984664006	0.5
18	21399967	C	A	18	23820003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00122636844965E-4	0.004
18	21399967	C	G	18	23820003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.47743602569053E-5	0.01
18	21399967	C	T	18	23820003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.30709156310599E-5	0.006
18	21399968	A	C	18	23820004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.87544548170259E-5	0.0
18	21399968	A	G	18	23820004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.87544548170259E-5	0.0
18	21399968	A	T	18	23820004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.68493855661294E-5	0.004
18	21399969	A	C	18	23820005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.30477579161392E-5	0.002
18	21399969	A	G	18	23820005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.14767442097854E-5	0.004
18	21399969	A	T	18	23820005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.59827990318004E-5	0.0
18	21402204	G	A	18	23822240	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999592291752215	0.95
18	21402204	G	C	18	23822240	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4194703438933E-4	0.008
18	21402204	G	T	18	23822240	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.59235737940408E-4	0.03
18	21402205	G	A	18	23822241	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.05436683052426E-4	0.008
18	21402205	G	C	18	23822241	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.08816777653625E-4	0.006
18	21402205	G	T	18	23822241	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.30373703990193E-4	0.048
18	21402206	T	A	18	23822242	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.13716993620601	0.634
18	21402206	T	C	18	23822242	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00183937977713532	0.168
18	21402206	T	G	18	23822242	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0614652876820466	0.584
18	21402207	A	C	18	23822243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.1173471145668E-5	0.0
18	21402207	A	G	18	23822243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.88412660083091E-5	0.014
18	21402207	A	T	18	23822243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.00011056818043E-5	0.016
18	21402208	T	A	18	23822244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.154521811849116	0.488
18	21402208	T	C	18	23822244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.25894996464444E-4	0.004
18	21402208	T	G	18	23822244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999876781441599	0.988
18	21402209	T	A	18	23822245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00154946091788151	0.084
18	21402209	T	C	18	23822245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.28435919017824E-4	0.01
18	21402209	T	G	18	23822245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0068501931147365	0.086
18	21402210	T	A	18	23822246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.784642848639761	0.618
18	21402210	T	C	18	23822246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.94661685982218E-4	0.032
18	21402210	T	G	18	23822246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.861521353598288	0.622
18	21402211	T	A	18	23822247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.893761206645516	0.622
18	21402211	T	C	18	23822247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.023601491693082	0.28
18	21402211	T	G	18	23822247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.933368913440002	0.658
18	21402212	T	A	18	23822248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.36788597275624E-6	0.002
18	21402212	T	C	18	23822248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.90435926005878E-6	0.0
18	21402212	T	G	18	23822248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.66788996267205E-5	0.0
18	21402213	C	A	18	23822249	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992906021876574	0.838
18	21402213	C	G	18	23822249	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999761232479884	0.952
18	21402213	C	T	18	23822249	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0423766847057169	0.264
18	21402214	A	C	18	23822250	y	y	splicing	LAMA3(NM_001127717:exon20:c.2305-2A>C;NM_198129:exon20:c.2305-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2305-2A>C;ENST00000399516:exon20:c.2305-2A>C)	.	.	0.999986741007567	0.944
18	21402214	A	G	18	23822250	y	y	splicing	LAMA3(NM_001127717:exon20:c.2305-2A>G;NM_198129:exon20:c.2305-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2305-2A>G;ENST00000399516:exon20:c.2305-2A>G)	.	.	0.999986741007567	0.944
18	21402214	A	T	18	23822250	y	y	splicing	LAMA3(NM_001127717:exon20:c.2305-2A>T;NM_198129:exon20:c.2305-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2305-2A>T;ENST00000399516:exon20:c.2305-2A>T)	.	.	0.999986741007567	0.944
18	21402215	G	A	18	23822251	y	y	splicing	LAMA3(NM_001127717:exon20:c.2305-1G>A;NM_198129:exon20:c.2305-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2305-1G>A;ENST00000399516:exon20:c.2305-1G>A)	.	.	0.999983677848485	0.942
18	21402215	G	C	18	23822251	y	y	splicing	LAMA3(NM_001127717:exon20:c.2305-1G>C;NM_198129:exon20:c.2305-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2305-1G>C;ENST00000399516:exon20:c.2305-1G>C)	.	.	0.999983677848485	0.942
18	21402215	G	T	18	23822251	y	y	splicing	LAMA3(NM_001127717:exon20:c.2305-1G>T;NM_198129:exon20:c.2305-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2305-1G>T;ENST00000399516:exon20:c.2305-1G>T)	.	.	0.999983677848485	0.942
18	21402216	A	C	18	23822252	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.A2305C:p.N769H;LAMA3:NM_001127717:exon20:c.A2305C:p.N769H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.A2305C:p.N769H;ENSG00000053747:ENST00000313654:exon20:c.A2305C:p.N769H;	0.160930165981547	0.238
18	21402216	A	G	18	23822252	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.A2305G:p.N769D;LAMA3:NM_001127717:exon20:c.A2305G:p.N769D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.A2305G:p.N769D;ENSG00000053747:ENST00000313654:exon20:c.A2305G:p.N769D;	2.74640379793217E-4	0.0
18	21402216	A	T	18	23822252	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.A2305T:p.N769Y;LAMA3:NM_001127717:exon20:c.A2305T:p.N769Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.A2305T:p.N769Y;ENSG00000053747:ENST00000313654:exon20:c.A2305T:p.N769Y;	0.151529847357791	0.258
18	21402217	A	C	18	23822253	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.A2306C:p.N769T;LAMA3:NM_001127717:exon20:c.A2306C:p.N769T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.A2306C:p.N769T;ENSG00000053747:ENST00000313654:exon20:c.A2306C:p.N769T;	0.842122394165027	0.736
18	21402217	A	G	18	23822253	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.A2306G:p.N769S;LAMA3:NM_001127717:exon20:c.A2306G:p.N769S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.A2306G:p.N769S;ENSG00000053747:ENST00000313654:exon20:c.A2306G:p.N769S;	0.0684559572732123	0.358
18	21402217	A	T	18	23822253	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.A2306T:p.N769I;LAMA3:NM_001127717:exon20:c.A2306T:p.N769I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.A2306T:p.N769I;ENSG00000053747:ENST00000313654:exon20:c.A2306T:p.N769I;	0.760211669482994	0.776
18	21402337	G	A	18	23822373	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon20:c.G2426A:p.W809X;LAMA3:NM_001127717:exon20:c.G2426A:p.W809X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon20:c.G2426A:p.W809X;ENSG00000053747:ENST00000313654:exon20:c.G2426A:p.W809X;	4.17776620466232E-4	0.416
18	21402337	G	C	18	23822373	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.G2426C:p.W809S;LAMA3:NM_001127717:exon20:c.G2426C:p.W809S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.G2426C:p.W809S;ENSG00000053747:ENST00000313654:exon20:c.G2426C:p.W809S;	2.40037334186624E-4	0.008
18	21402337	G	T	18	23822373	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.G2426T:p.W809L;LAMA3:NM_001127717:exon20:c.G2426T:p.W809L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.G2426T:p.W809L;ENSG00000053747:ENST00000313654:exon20:c.G2426T:p.W809L;	9.87258197317988E-5	0.018
18	21402338	G	A	18	23822374	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon20:c.G2427A:p.W809X;LAMA3:NM_001127717:exon20:c.G2427A:p.W809X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon20:c.G2427A:p.W809X;ENSG00000053747:ENST00000313654:exon20:c.G2427A:p.W809X;	0.076921347734354	0.522
18	21402338	G	C	18	23822374	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.G2427C:p.W809C;LAMA3:NM_001127717:exon20:c.G2427C:p.W809C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.G2427C:p.W809C;ENSG00000053747:ENST00000313654:exon20:c.G2427C:p.W809C;	3.22805036850129E-4	0.012
18	21402338	G	T	18	23822374	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.G2427T:p.W809C;LAMA3:NM_001127717:exon20:c.G2427T:p.W809C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.G2427T:p.W809C;ENSG00000053747:ENST00000313654:exon20:c.G2427T:p.W809C;	5.18822302918429E-4	0.006
18	21402339	G	A	18	23822375	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.G2428A:p.G810S;LAMA3:NM_001127717:exon20:c.G2428A:p.G810S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.G2428A:p.G810S;ENSG00000053747:ENST00000313654:exon20:c.G2428A:p.G810S;	0.993123316067246	0.836
18	21402339	G	C	18	23822375	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.G2428C:p.G810R;LAMA3:NM_001127717:exon20:c.G2428C:p.G810R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.G2428C:p.G810R;ENSG00000053747:ENST00000313654:exon20:c.G2428C:p.G810R;	0.999425064400472	0.836
18	21402339	G	T	18	23822375	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon20:c.G2428T:p.G810C;LAMA3:NM_001127717:exon20:c.G2428T:p.G810C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon20:c.G2428T:p.G810C;ENSG00000053747:ENST00000313654:exon20:c.G2428T:p.G810C;	0.991502550729806	0.842
18	21402340	G	A	18	23822376	y	y	splicing	LAMA3(NM_001127717:exon20:c.2428+1G>A;NM_198129:exon20:c.2428+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2428+1G>A;ENST00000399516:exon20:c.2428+1G>A)	.	.	0.999907552295815	0.694
18	21402340	G	C	18	23822376	y	y	splicing	LAMA3(NM_001127717:exon20:c.2428+1G>C;NM_198129:exon20:c.2428+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2428+1G>C;ENST00000399516:exon20:c.2428+1G>C)	.	.	0.99992695411921	0.678
18	21402340	G	T	18	23822376	y	y	splicing	LAMA3(NM_001127717:exon20:c.2428+1G>T;NM_198129:exon20:c.2428+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2428+1G>T;ENST00000399516:exon20:c.2428+1G>T)	.	.	0.999907552295815	0.676
18	21402341	T	A	18	23822377	y	y	splicing	LAMA3(NM_001127717:exon20:c.2428+2T>A;NM_198129:exon20:c.2428+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2428+2T>A;ENST00000399516:exon20:c.2428+2T>A)	.	.	0.999833850875384	0.67
18	21402341	T	C	18	23822377	y	y	splicing	LAMA3(NM_001127717:exon20:c.2428+2T>C;NM_198129:exon20:c.2428+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2428+2T>C;ENST00000399516:exon20:c.2428+2T>C)	.	.	0.962339293726976	0.614
18	21402341	T	G	18	23822377	y	y	splicing	LAMA3(NM_001127717:exon20:c.2428+2T>G;NM_198129:exon20:c.2428+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon20:c.2428+2T>G;ENST00000399516:exon20:c.2428+2T>G)	.	.	0.999833850875384	0.652
18	21402342	A	C	18	23822378	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992790122416117	0.778
18	21402342	A	G	18	23822378	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00942508346177039	0.142
18	21402342	A	T	18	23822378	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992989016604587	0.764
18	21402343	A	C	18	23822379	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.275156035894435	0.452
18	21402343	A	G	18	23822379	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.963629173558927	0.782
18	21402343	A	T	18	23822379	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.721710703754977	0.624
18	21402344	G	A	18	23822380	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.982329394297081	0.62
18	21402344	G	C	18	23822380	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994021026264755	0.66
18	21402344	G	T	18	23822380	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994776961806379	0.6
18	21402345	G	A	18	23822381	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.87298750442683E-5	0.0
18	21402345	G	C	18	23822381	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.80539911208731E-5	0.0
18	21402345	G	T	18	23822381	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.92670143834543E-5	0.002
18	21402346	C	A	18	23822382	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.10446990330113E-4	0.01
18	21402346	C	G	18	23822382	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.10446990330113E-4	0.026
18	21402346	C	T	18	23822382	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.95559889738459E-4	0.046
18	21402347	A	C	18	23822383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81230496496975E-4	0.016
18	21402347	A	G	18	23822383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81230496496975E-4	0.01
18	21402347	A	T	18	23822383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.49649551218383E-4	0.004
18	21404375	T	A	18	23824411	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.911102758596872	0.514
18	21404375	T	C	18	23824411	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.0408374211298E-5	0.018
18	21404375	T	G	18	23824411	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.354840676842404	0.3
18	21404376	A	C	18	23824412	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.25780634599057E-5	0.09
18	21404376	A	G	18	23824412	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.08351809033949E-6	0.056
18	21404376	A	T	18	23824412	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.30694322523366E-4	0.146
18	21404377	T	A	18	23824413	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.986532587912326	0.802
18	21404377	T	C	18	23824413	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00426165026821979	0.09
18	21404377	T	G	18	23824413	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999935181684033	0.946
18	21404378	T	A	18	23824414	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.453080739795347	0.434
18	21404378	T	C	18	23824414	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.62525509944678E-6	0.018
18	21404378	T	G	18	23824414	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.183142523298491	0.31
18	21404379	T	A	18	23824415	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.709376155924446	0.446
18	21404379	T	C	18	23824415	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.23716766347331E-4	0.016
18	21404379	T	G	18	23824415	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.30497009058128	0.54
18	21404380	C	A	18	23824416	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0327886981580791	0.25
18	21404380	C	G	18	23824416	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0074770933902205	0.274
18	21404380	C	T	18	23824416	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.16883144705932E-4	0.064
18	21404381	T	A	18	23824417	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999645108829221	0.91
18	21404381	T	C	18	23824417	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00544492170385896	0.058
18	21404381	T	G	18	23824417	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.964208573175965	0.722
18	21404382	G	A	18	23824418	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.30351281785799E-4	0.006
18	21404382	G	C	18	23824418	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.09371960573531E-5	0.004
18	21404382	G	T	18	23824418	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.78923123880273E-5	0.008
18	21404383	A	C	18	23824419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.33417670924671E-5	0.006
18	21404383	A	G	18	23824419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.44942971211416E-4	0.016
18	21404383	A	T	18	23824419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.28851075390239E-4	0.01
18	21404384	T	A	18	23824420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00398561512928437	0.232
18	21404384	T	C	18	23824420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17535800548857E-4	0.01
18	21404384	T	G	18	23824420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.975483069416464	0.644
18	21404385	A	C	18	23824421	y	y	splicing	LAMA3(NM_001127717:exon21:c.2429-2A>C;NM_198129:exon21:c.2429-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2429-2A>C;ENST00000399516:exon21:c.2429-2A>C)	.	.	0.999988247793601	0.93
18	21404385	A	G	18	23824421	y	y	splicing	LAMA3(NM_001127717:exon21:c.2429-2A>G;NM_198129:exon21:c.2429-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2429-2A>G;ENST00000399516:exon21:c.2429-2A>G)	.	.	0.999988247793601	0.93
18	21404385	A	T	18	23824421	y	y	splicing	LAMA3(NM_001127717:exon21:c.2429-2A>T;NM_198129:exon21:c.2429-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2429-2A>T;ENST00000399516:exon21:c.2429-2A>T)	.	.	0.999988247793601	0.93
18	21404386	G	A	18	23824422	y	y	splicing	LAMA3(NM_001127717:exon21:c.2429-1G>A;NM_198129:exon21:c.2429-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2429-1G>A;ENST00000399516:exon21:c.2429-1G>A)	.	.	0.999990361384395	0.938
18	21404386	G	C	18	23824422	y	y	splicing	LAMA3(NM_001127717:exon21:c.2429-1G>C;NM_198129:exon21:c.2429-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2429-1G>C;ENST00000399516:exon21:c.2429-1G>C)	.	.	0.999990361384395	0.938
18	21404386	G	T	18	23824422	y	y	splicing	LAMA3(NM_001127717:exon21:c.2429-1G>T;NM_198129:exon21:c.2429-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2429-1G>T;ENST00000399516:exon21:c.2429-1G>T)	.	.	0.999990361384395	0.938
18	21404387	G	A	18	23824423	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon21:c.G2429A:p.G810D;LAMA3:NM_001127717:exon21:c.G2429A:p.G810D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.G2429A:p.G810D;ENSG00000053747:ENST00000313654:exon21:c.G2429A:p.G810D;	0.00157950438650837	0.158
18	21404387	G	C	18	23824423	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon21:c.G2429C:p.G810A;LAMA3:NM_001127717:exon21:c.G2429C:p.G810A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.G2429C:p.G810A;ENSG00000053747:ENST00000313654:exon21:c.G2429C:p.G810A;	0.0227234568720828	0.42
18	21404387	G	T	18	23824423	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon21:c.G2429T:p.G810V;LAMA3:NM_001127717:exon21:c.G2429T:p.G810V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.G2429T:p.G810V;ENSG00000053747:ENST00000313654:exon21:c.G2429T:p.G810V;	0.977357503125123	0.658
18	21404388	T	A	18	23824424	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon21:c.T2430A:p.G810G;LAMA3:NM_001127717:exon21:c.T2430A:p.G810G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.T2430A:p.G810G;ENSG00000053747:ENST00000313654:exon21:c.T2430A:p.G810G;	0.00311264868917144	0.09
18	21404388	T	C	18	23824424	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon21:c.T2430C:p.G810G;LAMA3:NM_001127717:exon21:c.T2430C:p.G810G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.T2430C:p.G810G;ENSG00000053747:ENST00000313654:exon21:c.T2430C:p.G810G;	0.00516971308173186	0.058
18	21404388	T	G	18	23824424	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon21:c.T2430G:p.G810G;LAMA3:NM_001127717:exon21:c.T2430G:p.G810G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.T2430G:p.G810G;ENSG00000053747:ENST00000313654:exon21:c.T2430G:p.G810G;	0.00168210539421426	0.03
18	21404527	C	A	18	23824563	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon21:c.C2569A:p.L857M;LAMA3:NM_001127717:exon21:c.C2569A:p.L857M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.C2569A:p.L857M;ENSG00000053747:ENST00000313654:exon21:c.C2569A:p.L857M;	0.00542679885178853	0.116
18	21404527	C	G	18	23824563	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon21:c.C2569G:p.L857V;LAMA3:NM_001127717:exon21:c.C2569G:p.L857V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.C2569G:p.L857V;ENSG00000053747:ENST00000313654:exon21:c.C2569G:p.L857V;	0.00237189540686039	0.108
18	21404527	C	T	18	23824563	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon21:c.C2569T:p.L857L;LAMA3:NM_001127717:exon21:c.C2569T:p.L857L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.C2569T:p.L857L;ENSG00000053747:ENST00000313654:exon21:c.C2569T:p.L857L;	0.00687867845105557	0.226
18	21404528	T	A	18	23824564	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon21:c.T2570A:p.L857Q;LAMA3:NM_001127717:exon21:c.T2570A:p.L857Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.T2570A:p.L857Q;ENSG00000053747:ENST00000313654:exon21:c.T2570A:p.L857Q;	0.746468506712109	0.652
18	21404528	T	C	18	23824564	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon21:c.T2570C:p.L857P;LAMA3:NM_001127717:exon21:c.T2570C:p.L857P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.T2570C:p.L857P;ENSG00000053747:ENST00000313654:exon21:c.T2570C:p.L857P;	0.972288153177051	0.89
18	21404528	T	G	18	23824564	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon21:c.T2570G:p.L857R;LAMA3:NM_001127717:exon21:c.T2570G:p.L857R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.T2570G:p.L857R;ENSG00000053747:ENST00000313654:exon21:c.T2570G:p.L857R;	0.921797239887137	0.75
18	21404529	G	A	18	23824565	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon21:c.G2571A:p.L857L;LAMA3:NM_001127717:exon21:c.G2571A:p.L857L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.G2571A:p.L857L;ENSG00000053747:ENST00000313654:exon21:c.G2571A:p.L857L;	0.999968997936499	0.996
18	21404529	G	C	18	23824565	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon21:c.G2571C:p.L857L;LAMA3:NM_001127717:exon21:c.G2571C:p.L857L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.G2571C:p.L857L;ENSG00000053747:ENST00000313654:exon21:c.G2571C:p.L857L;	0.999989721771728	0.97
18	21404529	G	T	18	23824565	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon21:c.G2571T:p.L857L;LAMA3:NM_001127717:exon21:c.G2571T:p.L857L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon21:c.G2571T:p.L857L;ENSG00000053747:ENST00000313654:exon21:c.G2571T:p.L857L;	0.999968091683586	0.998
18	21404530	G	A	18	23824566	y	y	splicing	LAMA3(NM_001127717:exon21:c.2571+1G>A;NM_198129:exon21:c.2571+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2571+1G>A;ENST00000399516:exon21:c.2571+1G>A)	.	.	0.999990361384395	0.938
18	21404530	G	C	18	23824566	y	y	splicing	LAMA3(NM_001127717:exon21:c.2571+1G>C;NM_198129:exon21:c.2571+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2571+1G>C;ENST00000399516:exon21:c.2571+1G>C)	.	.	0.999990361384395	0.938
18	21404530	G	T	18	23824566	y	y	splicing	LAMA3(NM_001127717:exon21:c.2571+1G>T;NM_198129:exon21:c.2571+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2571+1G>T;ENST00000399516:exon21:c.2571+1G>T)	.	.	0.999990361384395	0.938
18	21404531	T	A	18	23824567	y	y	splicing	LAMA3(NM_001127717:exon21:c.2571+2T>A;NM_198129:exon21:c.2571+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2571+2T>A;ENST00000399516:exon21:c.2571+2T>A)	.	.	0.999988247793601	0.93
18	21404531	T	C	18	23824567	y	y	splicing	LAMA3(NM_001127717:exon21:c.2571+2T>C;NM_198129:exon21:c.2571+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2571+2T>C;ENST00000399516:exon21:c.2571+2T>C)	.	.	0.99991522016916	0.89
18	21404531	T	G	18	23824567	y	y	splicing	LAMA3(NM_001127717:exon21:c.2571+2T>G;NM_198129:exon21:c.2571+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon21:c.2571+2T>G;ENST00000399516:exon21:c.2571+2T>G)	.	.	0.999988247793601	0.93
18	21404532	A	C	18	23824568	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991886486681421	0.886
18	21404532	A	G	18	23824568	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.144066218481896	0.412
18	21404532	A	T	18	23824568	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999001648789179	0.89
18	21404533	A	C	18	23824569	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997923930100696	0.91
18	21404533	A	G	18	23824569	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995897748859464	0.908
18	21404533	A	T	18	23824569	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998732562753889	0.92
18	21404534	G	A	18	23824570	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999828099047009	0.856
18	21404534	G	C	18	23824570	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999872072445253	0.984
18	21404534	G	T	18	23824570	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999725083972031	0.772
18	21404535	A	C	18	23824571	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.61832277501291E-4	0.034
18	21404535	A	G	18	23824571	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.78769442711705E-5	0.014
18	21404535	A	T	18	23824571	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.56260844984363E-5	0.018
18	21404536	C	A	18	23824572	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.37637246976008E-4	0.012
18	21404536	C	G	18	23824572	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.28591857522327E-5	0.0
18	21404536	C	T	18	23824572	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00100784233821E-4	0.0
18	21404537	T	A	18	23824573	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.77415078351659E-5	0.012
18	21404537	T	C	18	23824573	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.10767836232624E-5	0.008
18	21404537	T	G	18	23824573	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6002118961634E-4	0.002
18	21406654	T	A	18	23826690	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.393732569106512	0.454
18	21406654	T	C	18	23826690	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00758438350649151	0.106
18	21406654	T	G	18	23826690	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.351537783830134	0.388
18	21406655	T	A	18	23826691	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00850100144842428	0.222
18	21406655	T	C	18	23826691	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.97843138637812E-4	0.054
18	21406655	T	G	18	23826691	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00155223536039008	0.178
18	21406656	T	A	18	23826692	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.99013073005023E-4	0.134
18	21406656	T	C	18	23826692	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.01100684729933E-4	0.002
18	21406656	T	G	18	23826692	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.15123137409106E-4	0.132
18	21406657	A	C	18	23826693	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.04745572355526E-5	0.0
18	21406657	A	G	18	23826693	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.89234466105764E-5	0.0
18	21406657	A	T	18	23826693	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.21813887601306E-5	0.004
18	21406658	T	A	18	23826694	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00253731694507409	0.162
18	21406658	T	C	18	23826694	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.90321116172384E-4	0.012
18	21406658	T	G	18	23826694	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999785147247455	0.986
18	21406659	T	A	18	23826695	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00694172447903182	0.154
18	21406659	T	C	18	23826695	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.23440925541648E-4	0.004
18	21406659	T	G	18	23826695	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00200113977373853	0.106
18	21406660	T	A	18	23826696	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0212804656332035	0.22
18	21406660	T	C	18	23826696	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.60792430405968E-4	0.018
18	21406660	T	G	18	23826696	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0165104708122201	0.272
18	21406661	T	A	18	23826697	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00241713300751655	0.11
18	21406661	T	C	18	23826697	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.43788416052514E-5	0.014
18	21406661	T	G	18	23826697	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00228045730325296	0.128
18	21406662	C	A	18	23826698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.35855115034612E-4	0.048
18	21406662	C	G	18	23826698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.80480453019968E-4	0.076
18	21406662	C	T	18	23826698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.70218773574523E-4	0.07
18	21406663	T	A	18	23826699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00263270989400189	0.152
18	21406663	T	C	18	23826699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.1323626089036E-5	0.008
18	21406663	T	G	18	23826699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.448316098588217	0.518
18	21406664	A	C	18	23826700	y	y	splicing	LAMA3(NM_001127717:exon22:c.2572-2A>C;NM_198129:exon22:c.2572-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2572-2A>C;ENST00000399516:exon22:c.2572-2A>C)	.	.	0.999988247793601	0.93
18	21406664	A	G	18	23826700	y	y	splicing	LAMA3(NM_001127717:exon22:c.2572-2A>G;NM_198129:exon22:c.2572-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2572-2A>G;ENST00000399516:exon22:c.2572-2A>G)	.	.	0.999988247793601	0.93
18	21406664	A	T	18	23826700	y	y	splicing	LAMA3(NM_001127717:exon22:c.2572-2A>T;NM_198129:exon22:c.2572-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2572-2A>T;ENST00000399516:exon22:c.2572-2A>T)	.	.	0.999988247793601	0.93
18	21406665	G	A	18	23826701	y	y	splicing	LAMA3(NM_001127717:exon22:c.2572-1G>A;NM_198129:exon22:c.2572-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2572-1G>A;ENST00000399516:exon22:c.2572-1G>A)	.	.	0.999985532734767	0.938
18	21406665	G	C	18	23826701	y	y	splicing	LAMA3(NM_001127717:exon22:c.2572-1G>C;NM_198129:exon22:c.2572-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2572-1G>C;ENST00000399516:exon22:c.2572-1G>C)	.	.	0.999985532734767	0.938
18	21406665	G	T	18	23826701	y	y	splicing	LAMA3(NM_001127717:exon22:c.2572-1G>T;NM_198129:exon22:c.2572-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2572-1G>T;ENST00000399516:exon22:c.2572-1G>T)	.	.	0.999985532734767	0.938
18	21406666	G	A	18	23826702	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.G2572A:p.D858N;LAMA3:NM_001127717:exon22:c.G2572A:p.D858N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.G2572A:p.D858N;ENSG00000053747:ENST00000313654:exon22:c.G2572A:p.D858N;	0.999542383148373	0.928
18	21406666	G	C	18	23826702	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.G2572C:p.D858H;LAMA3:NM_001127717:exon22:c.G2572C:p.D858H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.G2572C:p.D858H;ENSG00000053747:ENST00000313654:exon22:c.G2572C:p.D858H;	0.999266913368782	0.974
18	21406666	G	T	18	23826702	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.G2572T:p.D858Y;LAMA3:NM_001127717:exon22:c.G2572T:p.D858Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.G2572T:p.D858Y;ENSG00000053747:ENST00000313654:exon22:c.G2572T:p.D858Y;	0.999735800186842	0.998
18	21406667	A	C	18	23826703	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2573C:p.D858A;LAMA3:NM_001127717:exon22:c.A2573C:p.D858A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2573C:p.D858A;ENSG00000053747:ENST00000313654:exon22:c.A2573C:p.D858A;	0.763703498661978	0.746
18	21406667	A	G	18	23826703	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2573G:p.D858G;LAMA3:NM_001127717:exon22:c.A2573G:p.D858G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2573G:p.D858G;ENSG00000053747:ENST00000313654:exon22:c.A2573G:p.D858G;	0.769762546866303	0.604
18	21406667	A	T	18	23826703	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2573T:p.D858V;LAMA3:NM_001127717:exon22:c.A2573T:p.D858V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2573T:p.D858V;ENSG00000053747:ENST00000313654:exon22:c.A2573T:p.D858V;	0.785971158215795	0.806
18	21406761	A	C	18	23826797	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2667C:p.E889D;LAMA3:NM_001127717:exon22:c.A2667C:p.E889D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2667C:p.E889D;ENSG00000053747:ENST00000313654:exon22:c.A2667C:p.E889D;	4.46142184097041E-5	0.006
18	21406761	A	G	18	23826797	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon22:c.A2667G:p.E889E;LAMA3:NM_001127717:exon22:c.A2667G:p.E889E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2667G:p.E889E;ENSG00000053747:ENST00000313654:exon22:c.A2667G:p.E889E;	0.00494410544612456	0.068
18	21406761	A	T	18	23826797	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2667T:p.E889D;LAMA3:NM_001127717:exon22:c.A2667T:p.E889D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2667T:p.E889D;ENSG00000053747:ENST00000313654:exon22:c.A2667T:p.E889D;	0.782642180161718	0.564
18	21406762	A	C	18	23826798	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2668C:p.N890H;LAMA3:NM_001127717:exon22:c.A2668C:p.N890H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2668C:p.N890H;ENSG00000053747:ENST00000313654:exon22:c.A2668C:p.N890H;	0.999701297205212	0.968
18	21406762	A	G	18	23826798	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2668G:p.N890D;LAMA3:NM_001127717:exon22:c.A2668G:p.N890D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2668G:p.N890D;ENSG00000053747:ENST00000313654:exon22:c.A2668G:p.N890D;	0.999904853152473	0.964
18	21406762	A	T	18	23826798	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2668T:p.N890Y;LAMA3:NM_001127717:exon22:c.A2668T:p.N890Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2668T:p.N890Y;ENSG00000053747:ENST00000313654:exon22:c.A2668T:p.N890Y;	0.999901947180006	1.0
18	21406763	A	C	18	23826799	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2669C:p.N890T;LAMA3:NM_001127717:exon22:c.A2669C:p.N890T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2669C:p.N890T;ENSG00000053747:ENST00000313654:exon22:c.A2669C:p.N890T;	0.530629505693083	0.682
18	21406763	A	G	18	23826799	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2669G:p.N890S;LAMA3:NM_001127717:exon22:c.A2669G:p.N890S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2669G:p.N890S;ENSG00000053747:ENST00000313654:exon22:c.A2669G:p.N890S;	0.0117051355108352	0.134
18	21406763	A	T	18	23826799	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon22:c.A2669T:p.N890I;LAMA3:NM_001127717:exon22:c.A2669T:p.N890I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon22:c.A2669T:p.N890I;ENSG00000053747:ENST00000313654:exon22:c.A2669T:p.N890I;	0.902909751526058	0.46
18	21406764	G	A	18	23826800	y	y	splicing	LAMA3(NM_001127717:exon22:c.2669+1G>A;NM_198129:exon22:c.2669+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2669+1G>A;ENST00000399516:exon22:c.2669+1G>A)	.	.	0.999989125585301	0.944
18	21406764	G	C	18	23826800	y	y	splicing	LAMA3(NM_001127717:exon22:c.2669+1G>C;NM_198129:exon22:c.2669+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2669+1G>C;ENST00000399516:exon22:c.2669+1G>C)	.	.	0.999989125585301	0.944
18	21406764	G	T	18	23826800	y	y	splicing	LAMA3(NM_001127717:exon22:c.2669+1G>T;NM_198129:exon22:c.2669+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2669+1G>T;ENST00000399516:exon22:c.2669+1G>T)	.	.	0.999989125585301	0.944
18	21406765	T	A	18	23826801	y	y	splicing	LAMA3(NM_001127717:exon22:c.2669+2T>A;NM_198129:exon22:c.2669+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2669+2T>A;ENST00000399516:exon22:c.2669+2T>A)	.	.	0.999986741007567	0.946
18	21406765	T	C	18	23826801	y	y	splicing	LAMA3(NM_001127717:exon22:c.2669+2T>C;NM_198129:exon22:c.2669+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2669+2T>C;ENST00000399516:exon22:c.2669+2T>C)	.	.	0.985945734208409	0.688
18	21406765	T	G	18	23826801	y	y	splicing	LAMA3(NM_001127717:exon22:c.2669+2T>G;NM_198129:exon22:c.2669+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon22:c.2669+2T>G;ENST00000399516:exon22:c.2669+2T>G)	.	.	0.999986741007567	0.942
18	21406766	C	A	18	23826802	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45584264264683E-4	0.038
18	21406766	C	G	18	23826802	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.49785992555321E-5	0.054
18	21406766	C	T	18	23826802	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.69836995005144E-5	0.078
18	21406767	A	C	18	23826803	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999876672348624	0.83
18	21406767	A	G	18	23826803	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999634945514247	0.888
18	21406767	A	T	18	23826803	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999817875792681	0.908
18	21406768	G	A	18	23826804	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99998647994049	1.0
18	21406768	G	C	18	23826804	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999984267718264	0.978
18	21406768	G	T	18	23826804	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999984267718264	0.972
18	21406769	T	A	18	23826805	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999255323278138	0.788
18	21406769	T	C	18	23826805	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999270692890447	0.892
18	21406769	T	G	18	23826805	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999143939170296	0.856
18	21406770	G	A	18	23826806	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.9125407109713E-5	0.0
18	21406770	G	C	18	23826806	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.29893245305838E-5	0.0
18	21406770	G	T	18	23826806	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.76335033642936E-4	0.014
18	21406771	T	A	18	23826807	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.23534882110571E-4	0.022
18	21406771	T	C	18	23826807	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.92963784442614E-5	0.0
18	21406771	T	G	18	23826807	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.65993520886789E-4	0.022
18	21407266	C	A	18	23827302	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.43549581370343E-5	0.022
18	21407266	C	G	18	23827302	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.21673845375507E-5	0.06
18	21407266	C	T	18	23827302	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.67686208005377E-6	0.024
18	21407267	T	A	18	23827303	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999274199961373	0.93
18	21407267	T	C	18	23827303	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.38397954593541E-4	0.258
18	21407267	T	G	18	23827303	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0938574142218478	0.468
18	21407268	G	A	18	23827304	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38519111584411E-4	0.018
18	21407268	G	C	18	23827304	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.65379307875029E-5	0.038
18	21407268	G	T	18	23827304	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.65184495271444E-5	0.046
18	21407269	T	A	18	23827305	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.674143825906275	0.58
18	21407269	T	C	18	23827305	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.26494645620907E-4	0.052
18	21407269	T	G	18	23827305	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.301956335302233	0.526
18	21407270	T	A	18	23827306	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993561344550858	0.974
18	21407270	T	C	18	23827306	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.32863005163567E-5	0.026
18	21407270	T	G	18	23827306	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0264551538198855	0.496
18	21407271	G	A	18	23827307	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00169627689594722	0.026
18	21407271	G	C	18	23827307	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.26683065247632E-5	0.058
18	21407271	G	T	18	23827307	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09557990446713E-4	0.06
18	21407272	T	A	18	23827308	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.979192956511076	0.686
18	21407272	T	C	18	23827308	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0149654543774731	0.144
18	21407272	T	G	18	23827308	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.981907327028826	0.68
18	21407273	T	A	18	23827309	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999554764573686	0.904
18	21407273	T	C	18	23827309	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.205027027118673	0.3
18	21407273	T	G	18	23827309	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.973108898945347	0.72
18	21407274	G	A	18	23827310	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.23836519676692E-4	0.142
18	21407274	G	C	18	23827310	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.57749730598782E-4	0.058
18	21407274	G	T	18	23827310	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.51055169597197E-4	0.136
18	21407275	A	C	18	23827311	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.93080063123003E-5	0.016
18	21407275	A	G	18	23827311	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0279669798848291	0.212
18	21407275	A	T	18	23827311	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.29357829589899E-5	0.008
18	21407276	A	C	18	23827312	y	y	splicing	LAMA3(NM_001127717:exon23:c.2670-2A>C;NM_198129:exon23:c.2670-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2670-2A>C;ENST00000399516:exon23:c.2670-2A>C)	.	.	0.999933834912627	0.89
18	21407276	A	G	18	23827312	y	y	splicing	LAMA3(NM_001127717:exon23:c.2670-2A>G;NM_198129:exon23:c.2670-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2670-2A>G;ENST00000399516:exon23:c.2670-2A>G)	.	.	0.999933834912627	0.89
18	21407276	A	T	18	23827312	y	y	splicing	LAMA3(NM_001127717:exon23:c.2670-2A>T;NM_198129:exon23:c.2670-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2670-2A>T;ENST00000399516:exon23:c.2670-2A>T)	.	.	0.999914511980801	0.89
18	21407277	G	A	18	23827313	y	y	splicing	LAMA3(NM_001127717:exon23:c.2670-1G>A;NM_198129:exon23:c.2670-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2670-1G>A;ENST00000399516:exon23:c.2670-1G>A)	.	.	0.999971817005805	0.882
18	21407277	G	C	18	23827313	y	y	splicing	LAMA3(NM_001127717:exon23:c.2670-1G>C;NM_198129:exon23:c.2670-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2670-1G>C;ENST00000399516:exon23:c.2670-1G>C)	.	.	0.999971817005805	0.882
18	21407277	G	T	18	23827313	y	y	splicing	LAMA3(NM_001127717:exon23:c.2670-1G>T;NM_198129:exon23:c.2670-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2670-1G>T;ENST00000399516:exon23:c.2670-1G>T)	.	.	0.999971817005805	0.882
18	21407278	T	A	18	23827314	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.T2670A:p.N890K;LAMA3:NM_001127717:exon23:c.T2670A:p.N890K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.T2670A:p.N890K;ENSG00000053747:ENST00000313654:exon23:c.T2670A:p.N890K;	1.34457681642371E-5	0.12
18	21407278	T	C	18	23827314	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon23:c.T2670C:p.N890N;LAMA3:NM_001127717:exon23:c.T2670C:p.N890N;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.T2670C:p.N890N;ENSG00000053747:ENST00000313654:exon23:c.T2670C:p.N890N;	3.3169892367973E-4	0.128
18	21407278	T	G	18	23827314	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.T2670G:p.N890K;LAMA3:NM_001127717:exon23:c.T2670G:p.N890K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.T2670G:p.N890K;ENSG00000053747:ENST00000313654:exon23:c.T2670G:p.N890K;	3.80493317839458E-4	0.136
18	21407279	T	A	18	23827315	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.T2671A:p.C891S;LAMA3:NM_001127717:exon23:c.T2671A:p.C891S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.T2671A:p.C891S;ENSG00000053747:ENST00000313654:exon23:c.T2671A:p.C891S;	0.528997920638702	0.358
18	21407279	T	C	18	23827315	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.T2671C:p.C891R;LAMA3:NM_001127717:exon23:c.T2671C:p.C891R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.T2671C:p.C891R;ENSG00000053747:ENST00000313654:exon23:c.T2671C:p.C891R;	0.285078142471891	0.336
18	21407279	T	G	18	23827315	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.T2671G:p.C891G;LAMA3:NM_001127717:exon23:c.T2671G:p.C891G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.T2671G:p.C891G;ENSG00000053747:ENST00000313654:exon23:c.T2671G:p.C891G;	0.285686990543861	0.342
18	21407429	G	A	18	23827465	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.G2821A:p.E941K;LAMA3:NM_001127717:exon23:c.G2821A:p.E941K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.G2821A:p.E941K;ENSG00000053747:ENST00000313654:exon23:c.G2821A:p.E941K;	1.24176583446794E-4	0.004
18	21407429	G	C	18	23827465	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.G2821C:p.E941Q;LAMA3:NM_001127717:exon23:c.G2821C:p.E941Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.G2821C:p.E941Q;ENSG00000053747:ENST00000313654:exon23:c.G2821C:p.E941Q;	4.08959060299365E-5	0.0
18	21407429	G	T	18	23827465	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon23:c.G2821T:p.E941X;LAMA3:NM_001127717:exon23:c.G2821T:p.E941X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon23:c.G2821T:p.E941X;ENSG00000053747:ENST00000313654:exon23:c.G2821T:p.E941X;	6.85880570252055E-4	0.328
18	21407430	A	C	18	23827466	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.A2822C:p.E941A;LAMA3:NM_001127717:exon23:c.A2822C:p.E941A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.A2822C:p.E941A;ENSG00000053747:ENST00000313654:exon23:c.A2822C:p.E941A;	0.997789200686587	0.976
18	21407430	A	G	18	23827466	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.A2822G:p.E941G;LAMA3:NM_001127717:exon23:c.A2822G:p.E941G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.A2822G:p.E941G;ENSG00000053747:ENST00000313654:exon23:c.A2822G:p.E941G;	0.99957314522569	0.99
18	21407430	A	T	18	23827466	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.A2822T:p.E941V;LAMA3:NM_001127717:exon23:c.A2822T:p.E941V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.A2822T:p.E941V;ENSG00000053747:ENST00000313654:exon23:c.A2822T:p.E941V;	0.99989091913842	0.99
18	21407431	G	A	18	23827467	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon23:c.G2823A:p.E941E;LAMA3:NM_001127717:exon23:c.G2823A:p.E941E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.G2823A:p.E941E;ENSG00000053747:ENST00000313654:exon23:c.G2823A:p.E941E;	0.999919748914757	0.984
18	21407431	G	C	18	23827467	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.G2823C:p.E941D;LAMA3:NM_001127717:exon23:c.G2823C:p.E941D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.G2823C:p.E941D;ENSG00000053747:ENST00000313654:exon23:c.G2823C:p.E941D;	0.999992915438495	0.984
18	21407431	G	T	18	23827467	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon23:c.G2823T:p.E941D;LAMA3:NM_001127717:exon23:c.G2823T:p.E941D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon23:c.G2823T:p.E941D;ENSG00000053747:ENST00000313654:exon23:c.G2823T:p.E941D;	0.999980499638849	0.99
18	21407432	G	A	18	23827468	y	y	splicing	LAMA3(NM_001127717:exon23:c.2823+1G>A;NM_198129:exon23:c.2823+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2823+1G>A;ENST00000399516:exon23:c.2823+1G>A)	.	.	0.99993728210172	0.928
18	21407432	G	C	18	23827468	y	y	splicing	LAMA3(NM_001127717:exon23:c.2823+1G>C;NM_198129:exon23:c.2823+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2823+1G>C;ENST00000399516:exon23:c.2823+1G>C)	.	.	0.99993728210172	0.928
18	21407432	G	T	18	23827468	y	y	splicing	LAMA3(NM_001127717:exon23:c.2823+1G>T;NM_198129:exon23:c.2823+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2823+1G>T;ENST00000399516:exon23:c.2823+1G>T)	.	.	0.99993728210172	0.928
18	21407433	T	A	18	23827469	y	y	splicing	LAMA3(NM_001127717:exon23:c.2823+2T>A;NM_198129:exon23:c.2823+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2823+2T>A;ENST00000399516:exon23:c.2823+2T>A)	.	.	0.999974852928333	0.924
18	21407433	T	C	18	23827469	y	y	splicing	LAMA3(NM_001127717:exon23:c.2823+2T>C;NM_198129:exon23:c.2823+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2823+2T>C;ENST00000399516:exon23:c.2823+2T>C)	.	.	0.999643996636774	0.922
18	21407433	T	G	18	23827469	y	y	splicing	LAMA3(NM_001127717:exon23:c.2823+2T>G;NM_198129:exon23:c.2823+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon23:c.2823+2T>G;ENST00000399516:exon23:c.2823+2T>G)	.	.	0.999974852928333	0.94
18	21407434	G	A	18	23827470	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20961889846611E-4	0.206
18	21407434	G	C	18	23827470	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.228780750204035	0.48
18	21407434	G	T	18	23827470	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.52929956688244	0.454
18	21407435	G	A	18	23827471	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.06631964883267E-4	0.184
18	21407435	G	C	18	23827471	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.35098839467737E-4	0.086
18	21407435	G	T	18	23827471	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.25070677851106E-4	0.114
18	21407436	G	A	18	23827472	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999817459282222	0.894
18	21407436	G	C	18	23827472	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9996251715576	0.926
18	21407436	G	T	18	23827472	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999926383440655	0.9
18	21407437	C	A	18	23827473	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.9743543087626E-4	0.028
18	21407437	C	G	18	23827473	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.24048388953129E-4	0.086
18	21407437	C	T	18	23827473	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33684777350849E-5	0.0
18	21407438	C	A	18	23827474	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.35413503045763E-5	0.0
18	21407438	C	G	18	23827474	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.35413503045763E-5	0.0
18	21407438	C	T	18	23827474	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.16856908168895E-5	0.002
18	21407439	A	C	18	23827475	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.99702868454016E-4	0.004
18	21407439	A	G	18	23827475	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.99702868454016E-4	0.028
18	21407439	A	T	18	23827475	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.35179937135038E-4	0.0
18	21413780	C	A	18	23833816	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00440860371066821	0.162
18	21413780	C	G	18	23833816	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00320774413999018	0.206
18	21413780	C	T	18	23833816	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.16319947771996E-4	0.02
18	21413781	C	A	18	23833817	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0168200634677749	0.066
18	21413781	C	G	18	23833817	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.86146800881313E-4	0.058
18	21413781	C	T	18	23833817	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.83837343742069E-5	0.0
18	21413782	T	A	18	23833818	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.766009860464366	0.53
18	21413782	T	C	18	23833818	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00117760539558918	0.062
18	21413782	T	G	18	23833818	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.617512082252465	0.506
18	21413783	C	A	18	23833819	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0161589991014823	0.13
18	21413783	C	G	18	23833819	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.43514146464927E-4	0.12
18	21413783	C	T	18	23833819	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.86450750602197E-4	0.018
18	21413784	T	A	18	23833820	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999930031641001	0.966
18	21413784	T	C	18	23833820	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.56970683522156E-4	0.02
18	21413784	T	G	18	23833820	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.35110467301928	0.43
18	21413785	G	A	18	23833821	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.1214606431005E-5	0.002
18	21413785	G	C	18	23833821	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.65047354028333E-5	0.0
18	21413785	G	T	18	23833821	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.55908716824608E-5	0.0
18	21413786	T	A	18	23833822	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999813114715878	0.964
18	21413786	T	C	18	23833822	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.49913433273738E-5	0.026
18	21413786	T	G	18	23833822	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00954036183333648	0.478
18	21413787	G	A	18	23833823	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.01881813723467E-4	0.072
18	21413787	G	C	18	23833823	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.32793277832947E-5	0.028
18	21413787	G	T	18	23833823	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.22726450589343E-5	0.022
18	21413788	A	C	18	23833824	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.43587705589537E-5	0.006
18	21413788	A	G	18	23833824	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.08387134092679E-4	0.088
18	21413788	A	T	18	23833824	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.70790852001629E-5	0.0
18	21413789	C	A	18	23833825	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998202857856724	0.858
18	21413789	C	G	18	23833825	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999947821449606	0.936
18	21413789	C	T	18	23833825	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0196197401292378	0.266
18	21413790	A	C	18	23833826	y	y	splicing	LAMA3(NM_001127717:exon24:c.2824-2A>C;NM_198129:exon24:c.2824-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2824-2A>C;ENST00000399516:exon24:c.2824-2A>C)	.	.	0.99996509239462	0.93
18	21413790	A	G	18	23833826	y	y	splicing	LAMA3(NM_001127717:exon24:c.2824-2A>G;NM_198129:exon24:c.2824-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2824-2A>G;ENST00000399516:exon24:c.2824-2A>G)	.	.	0.99996509239462	0.93
18	21413790	A	T	18	23833826	y	y	splicing	LAMA3(NM_001127717:exon24:c.2824-2A>T;NM_198129:exon24:c.2824-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2824-2A>T;ENST00000399516:exon24:c.2824-2A>T)	.	.	0.99996509239462	0.926
18	21413791	G	A	18	23833827	y	y	splicing	LAMA3(NM_001127717:exon24:c.2824-1G>A;NM_198129:exon24:c.2824-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2824-1G>A;ENST00000399516:exon24:c.2824-1G>A)	.	.	0.999978952611685	0.922
18	21413791	G	C	18	23833827	y	y	splicing	LAMA3(NM_001127717:exon24:c.2824-1G>C;NM_198129:exon24:c.2824-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2824-1G>C;ENST00000399516:exon24:c.2824-1G>C)	.	.	0.99994568797423	0.924
18	21413791	G	T	18	23833827	y	y	splicing	LAMA3(NM_001127717:exon24:c.2824-1G>T;NM_198129:exon24:c.2824-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2824-1G>T;ENST00000399516:exon24:c.2824-1G>T)	.	.	0.99994568797423	0.922
18	21413792	G	A	18	23833828	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.G2824A:p.V942M;LAMA3:NM_001127717:exon24:c.G2824A:p.V942M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.G2824A:p.V942M;ENSG00000053747:ENST00000313654:exon24:c.G2824A:p.V942M;	0.964719380602828	0.634
18	21413792	G	C	18	23833828	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.G2824C:p.V942L;LAMA3:NM_001127717:exon24:c.G2824C:p.V942L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.G2824C:p.V942L;ENSG00000053747:ENST00000313654:exon24:c.G2824C:p.V942L;	0.83279334584421	0.766
18	21413792	G	T	18	23833828	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.G2824T:p.V942L;LAMA3:NM_001127717:exon24:c.G2824T:p.V942L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.G2824T:p.V942L;ENSG00000053747:ENST00000313654:exon24:c.G2824T:p.V942L;	0.867641615170598	0.884
18	21413793	T	A	18	23833829	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.T2825A:p.V942E;LAMA3:NM_001127717:exon24:c.T2825A:p.V942E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.T2825A:p.V942E;ENSG00000053747:ENST00000313654:exon24:c.T2825A:p.V942E;	0.622067908079613	0.292
18	21413793	T	C	18	23833829	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.T2825C:p.V942A;LAMA3:NM_001127717:exon24:c.T2825C:p.V942A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.T2825C:p.V942A;ENSG00000053747:ENST00000313654:exon24:c.T2825C:p.V942A;	0.66984918860545	0.3
18	21413793	T	G	18	23833829	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.T2825G:p.V942G;LAMA3:NM_001127717:exon24:c.T2825G:p.V942G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.T2825G:p.V942G;ENSG00000053747:ENST00000313654:exon24:c.T2825G:p.V942G;	0.636154931031645	0.294
18	21413950	C	A	18	23833986	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon24:c.C2982A:p.Y994X;LAMA3:NM_001127717:exon24:c.C2982A:p.Y994X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon24:c.C2982A:p.Y994X;ENSG00000053747:ENST00000313654:exon24:c.C2982A:p.Y994X;	0.937378054507239	0.73
18	21413950	C	G	18	23833986	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon24:c.C2982G:p.Y994X;LAMA3:NM_001127717:exon24:c.C2982G:p.Y994X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon24:c.C2982G:p.Y994X;ENSG00000053747:ENST00000313654:exon24:c.C2982G:p.Y994X;	0.916301002819573	0.628
18	21413950	C	T	18	23833986	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon24:c.C2982T:p.Y994Y;LAMA3:NM_001127717:exon24:c.C2982T:p.Y994Y;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.C2982T:p.Y994Y;ENSG00000053747:ENST00000313654:exon24:c.C2982T:p.Y994Y;	0.989025389785795	0.732
18	21413951	A	C	18	23833987	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.A2983C:p.S995R;LAMA3:NM_001127717:exon24:c.A2983C:p.S995R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.A2983C:p.S995R;ENSG00000053747:ENST00000313654:exon24:c.A2983C:p.S995R;	0.999825621268287	0.98
18	21413951	A	G	18	23833987	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.A2983G:p.S995G;LAMA3:NM_001127717:exon24:c.A2983G:p.S995G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.A2983G:p.S995G;ENSG00000053747:ENST00000313654:exon24:c.A2983G:p.S995G;	0.999673721743119	0.978
18	21413951	A	T	18	23833987	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.A2983T:p.S995C;LAMA3:NM_001127717:exon24:c.A2983T:p.S995C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.A2983T:p.S995C;ENSG00000053747:ENST00000313654:exon24:c.A2983T:p.S995C;	0.9995460556841	0.982
18	21413952	G	A	18	23833988	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.G2984A:p.S995N;LAMA3:NM_001127717:exon24:c.G2984A:p.S995N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.G2984A:p.S995N;ENSG00000053747:ENST00000313654:exon24:c.G2984A:p.S995N;	0.999992042933719	1.0
18	21413952	G	C	18	23833988	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.G2984C:p.S995T;LAMA3:NM_001127717:exon24:c.G2984C:p.S995T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.G2984C:p.S995T;ENSG00000053747:ENST00000313654:exon24:c.G2984C:p.S995T;	0.999997360428448	1.0
18	21413952	G	T	18	23833988	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon24:c.G2984T:p.S995I;LAMA3:NM_001127717:exon24:c.G2984T:p.S995I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon24:c.G2984T:p.S995I;ENSG00000053747:ENST00000313654:exon24:c.G2984T:p.S995I;	0.999995009246243	1.0
18	21413953	G	A	18	23833989	y	y	splicing	LAMA3(NM_001127717:exon24:c.2984+1G>A;NM_198129:exon24:c.2984+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2984+1G>A;ENST00000399516:exon24:c.2984+1G>A;ENST00000592519:exon1:c.36+1G>A)	.	.	0.999990361384395	0.928
18	21413953	G	C	18	23833989	y	y	splicing	LAMA3(NM_001127717:exon24:c.2984+1G>C;NM_198129:exon24:c.2984+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2984+1G>C;ENST00000399516:exon24:c.2984+1G>C;ENST00000592519:exon1:c.36+1G>C)	.	.	0.999990361384395	0.928
18	21413953	G	T	18	23833989	y	y	splicing	LAMA3(NM_001127717:exon24:c.2984+1G>T;NM_198129:exon24:c.2984+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2984+1G>T;ENST00000399516:exon24:c.2984+1G>T;ENST00000592519:exon1:c.36+1G>T)	.	.	0.999990361384395	0.928
18	21413954	T	A	18	23833990	y	y	splicing	LAMA3(NM_001127717:exon24:c.2984+2T>A;NM_198129:exon24:c.2984+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2984+2T>A;ENST00000399516:exon24:c.2984+2T>A;ENST00000592519:exon1:c.36+2T>A)	.	.	0.999992446697775	0.93
18	21413954	T	C	18	23833990	y	y	splicing	LAMA3(NM_001127717:exon24:c.2984+2T>C;NM_198129:exon24:c.2984+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2984+2T>C;ENST00000399516:exon24:c.2984+2T>C;ENST00000592519:exon1:c.36+2T>C)	.	.	0.989838600809155	0.646
18	21413954	T	G	18	23833990	y	y	splicing	LAMA3(NM_001127717:exon24:c.2984+2T>G;NM_198129:exon24:c.2984+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon24:c.2984+2T>G;ENST00000399516:exon24:c.2984+2T>G;ENST00000592519:exon1:c.36+2T>G)	.	.	0.999992446697775	0.93
18	21413955	A	C	18	23833991	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999906029303645	0.864
18	21413955	A	G	18	23833991	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.919288713774442	0.614
18	21413955	A	T	18	23833991	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999906029303645	0.882
18	21413956	C	A	18	23833992	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.22783448725089E-5	0.038
18	21413956	C	G	18	23833992	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.5662057252197E-4	0.098
18	21413956	C	T	18	23833992	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.47270081400277E-5	0.054
18	21413957	T	A	18	23833993	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.65284849570934E-4	0.004
18	21413957	T	C	18	23833993	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.6701332758842E-5	0.012
18	21413957	T	G	18	23833993	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.58830124896057E-4	0.154
18	21413958	C	A	18	23833994	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.39271584778566E-5	0.0
18	21413958	C	G	18	23833994	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.63889652170937E-5	0.004
18	21413958	C	T	18	23833994	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.93250010275471E-5	0.006
18	21413959	A	C	18	23833995	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.42446423495145E-5	0.0
18	21413959	A	G	18	23833995	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.48982468397583E-5	0.0
18	21413959	A	T	18	23833995	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.31090541603857E-5	0.006
18	21413960	G	A	18	23833996	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.21529809431356E-5	0.0
18	21413960	G	C	18	23833996	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.86498230294278E-5	0.0
18	21413960	G	T	18	23833996	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.13201283508266E-4	0.0
18	21414236	T	A	18	23834272	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.8042999492716E-5	0.01
18	21414236	T	C	18	23834272	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.4243997895107E-5	0.006
18	21414236	T	G	18	23834272	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.4243997895107E-5	0.006
18	21414237	C	A	18	23834273	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.31929338280547E-5	0.006
18	21414237	C	G	18	23834273	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.31929338280547E-5	0.002
18	21414237	C	T	18	23834273	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.72863585454216E-5	0.006
18	21414238	T	A	18	23834274	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.08802802279601E-5	0.0
18	21414238	T	C	18	23834274	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.78864525412067E-5	0.0
18	21414238	T	G	18	23834274	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.78864525412067E-5	0.0
18	21414239	A	C	18	23834275	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.42544334184685E-5	0.09
18	21414239	A	G	18	23834275	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.42544334184685E-5	0.022
18	21414239	A	T	18	23834275	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5529151830241E-5	0.0
18	21414240	T	A	18	23834276	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5529151830241E-5	0.0
18	21414240	T	C	18	23834276	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5529151830241E-5	0.0
18	21414240	T	G	18	23834276	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5529151830241E-5	0.0
18	21414241	C	A	18	23834277	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44782069694124E-5	0.006
18	21414241	C	G	18	23834277	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44782069694124E-5	0.006
18	21414241	C	T	18	23834277	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44782069694124E-5	0.006
18	21414242	A	C	18	23834278	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5529151830241E-5	0.0
18	21414242	A	G	18	23834278	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5529151830241E-5	0.0
18	21414242	A	T	18	23834278	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5529151830241E-5	0.0
18	21414243	C	A	18	23834279	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.25395666728411E-5	0.004
18	21414243	C	G	18	23834279	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.01405895405358E-5	0.012
18	21414243	C	T	18	23834279	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.25395666728411E-5	0.004
18	21414244	T	A	18	23834280	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5529151830241E-5	0.0
18	21414244	T	C	18	23834280	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.42544334184685E-5	0.008
18	21414244	T	G	18	23834280	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.42544334184685E-5	0.008
18	21414245	C	A	18	23834281	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.59209916280968E-5	0.006
18	21414245	C	G	18	23834281	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.59209916280968E-5	0.004
18	21414245	C	T	18	23834281	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.68622737106591E-5	0.006
18	21414246	A	C	18	23834282	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000592519:exon2:c.37-2A>C)	.	.	6.89925739660516E-5	0.006
18	21414246	A	G	18	23834282	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000592519:exon2:c.37-2A>G)	.	.	6.89925739660516E-5	0.006
18	21414246	A	T	18	23834282	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000592519:exon2:c.37-2A>T)	.	.	5.15941453541388E-5	0.014
18	21414247	G	A	18	23834283	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000592519:exon2:c.37-1G>A)	.	.	3.78864525412067E-5	0.002
18	21414247	G	C	18	23834283	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000592519:exon2:c.37-1G>C)	.	.	2.45277156108894E-5	0.002
18	21414247	G	T	18	23834283	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000592519:exon2:c.37-1G>T)	.	.	3.78864525412067E-5	0.002
18	21414248	G	A	18	23834284	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	4.39765988491657E-5	0.022
18	21414248	G	C	18	23834284	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	4.39765988491657E-5	0.006
18	21414248	G	T	18	23834284	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	4.39765988491657E-5	0.008
18	21414249	T	A	18	23834285	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	5.5529151830241E-5	0.0
18	21414249	T	C	18	23834285	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	5.5529151830241E-5	0.008
18	21414249	T	G	18	23834285	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	5.5529151830241E-5	0.008
18	21416933	T	A	18	23836969	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00536641083948146	0.124
18	21416933	T	C	18	23836969	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.70360495338483E-4	0.008
18	21416933	T	G	18	23836969	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00270857420754598	0.1
18	21416934	T	A	18	23836970	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.00587765444988E-4	0.044
18	21416934	T	C	18	23836970	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.32576466426325E-5	0.004
18	21416934	T	G	18	23836970	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.55201322725103E-4	0.038
18	21416935	T	A	18	23836971	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00249808144859027	0.086
18	21416935	T	C	18	23836971	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.3376763224797E-4	0.008
18	21416935	T	G	18	23836971	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00102260523530428	0.07
18	21416936	C	A	18	23836972	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00122239340539262	0.058
18	21416936	C	G	18	23836972	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.25239669754502E-4	0.012
18	21416936	C	T	18	23836972	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.88608521089698E-5	0.012
18	21416937	T	A	18	23836973	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0023292194113808	0.098
18	21416937	T	C	18	23836973	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.94222585950472E-5	0.0
18	21416937	T	G	18	23836973	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0014466187667684	0.128
18	21416938	C	A	18	23836974	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00367483574972575	0.056
18	21416938	C	G	18	23836974	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00344202215742422	0.05
18	21416938	C	T	18	23836974	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.18908193248883E-5	0.002
18	21416939	T	A	18	23836975	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00364002767554315	0.07
18	21416939	T	C	18	23836975	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.12965612837923E-5	0.0
18	21416939	T	G	18	23836975	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00103862723324383	0.054
18	21416940	T	A	18	23836976	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993132570664107	0.86
18	21416940	T	C	18	23836976	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.69631859452755E-4	0.002
18	21416940	T	G	18	23836976	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00229363992647594	0.156
18	21416941	G	A	18	23836977	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.43456372738306E-4	0.002
18	21416941	G	C	18	23836977	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.72276945697298E-5	0.004
18	21416941	G	T	18	23836977	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.10368493308568E-5	0.002
18	21416942	C	A	18	23836978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.716520374339881	0.634
18	21416942	C	G	18	23836978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998634607486793	0.972
18	21416942	C	T	18	23836978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00753106134642246	0.108
18	21416943	A	C	18	23836979	y	y	splicing	LAMA3(NM_001127717:exon25:c.2985-2A>C;NM_198129:exon25:c.2985-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.2985-2A>C;ENST00000399516:exon25:c.2985-2A>C)	.	.	0.999988247793601	0.928
18	21416943	A	G	18	23836979	y	y	splicing	LAMA3(NM_001127717:exon25:c.2985-2A>G;NM_198129:exon25:c.2985-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.2985-2A>G;ENST00000399516:exon25:c.2985-2A>G)	.	.	0.999988247793601	0.928
18	21416943	A	T	18	23836979	y	y	splicing	LAMA3(NM_001127717:exon25:c.2985-2A>T;NM_198129:exon25:c.2985-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.2985-2A>T;ENST00000399516:exon25:c.2985-2A>T)	.	.	0.999988247793601	0.928
18	21416944	G	A	18	23836980	y	y	splicing	LAMA3(NM_001127717:exon25:c.2985-1G>A;NM_198129:exon25:c.2985-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.2985-1G>A;ENST00000399516:exon25:c.2985-1G>A)	.	.	0.999990361384395	0.936
18	21416944	G	C	18	23836980	y	y	splicing	LAMA3(NM_001127717:exon25:c.2985-1G>C;NM_198129:exon25:c.2985-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.2985-1G>C;ENST00000399516:exon25:c.2985-1G>C)	.	.	0.999990361384395	0.934
18	21416944	G	T	18	23836980	y	y	splicing	LAMA3(NM_001127717:exon25:c.2985-1G>T;NM_198129:exon25:c.2985-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.2985-1G>T;ENST00000399516:exon25:c.2985-1G>T)	.	.	0.999990361384395	0.936
18	21416945	T	A	18	23836981	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.T2985A:p.S995R;LAMA3:NM_001127717:exon25:c.T2985A:p.S995R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.T2985A:p.S995R;ENSG00000053747:ENST00000313654:exon25:c.T2985A:p.S995R;	1.27869500925168E-5	0.126
18	21416945	T	C	18	23836981	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon25:c.T2985C:p.S995S;LAMA3:NM_001127717:exon25:c.T2985C:p.S995S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.T2985C:p.S995S;ENSG00000053747:ENST00000313654:exon25:c.T2985C:p.S995S;	9.05465141009358E-5	0.012
18	21416945	T	G	18	23836981	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.T2985G:p.S995R;LAMA3:NM_001127717:exon25:c.T2985G:p.S995R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.T2985G:p.S995R;ENSG00000053747:ENST00000313654:exon25:c.T2985G:p.S995R;	2.96327116518022E-5	0.138
18	21416946	G	A	18	23836982	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.G2986A:p.V996I;LAMA3:NM_001127717:exon25:c.G2986A:p.V996I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.G2986A:p.V996I;ENSG00000053747:ENST00000313654:exon25:c.G2986A:p.V996I;	1.79036602591993E-4	0.03
18	21416946	G	C	18	23836982	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.G2986C:p.V996L;LAMA3:NM_001127717:exon25:c.G2986C:p.V996L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.G2986C:p.V996L;ENSG00000053747:ENST00000313654:exon25:c.G2986C:p.V996L;	1.1427598237394E-4	0.038
18	21416946	G	T	18	23836982	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.G2986T:p.V996F;LAMA3:NM_001127717:exon25:c.G2986T:p.V996F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.G2986T:p.V996F;ENSG00000053747:ENST00000313654:exon25:c.G2986T:p.V996F;	1.81977181562654E-5	0.004
18	21417051	C	A	18	23837087	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.C3091A:p.L1031M;LAMA3:NM_001127717:exon25:c.C3091A:p.L1031M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.C3091A:p.L1031M;ENSG00000053747:ENST00000313654:exon25:c.C3091A:p.L1031M;	0.110471462410598	0.446
18	21417051	C	G	18	23837087	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.C3091G:p.L1031V;LAMA3:NM_001127717:exon25:c.C3091G:p.L1031V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.C3091G:p.L1031V;ENSG00000053747:ENST00000313654:exon25:c.C3091G:p.L1031V;	0.0563720487147526	0.146
18	21417051	C	T	18	23837087	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon25:c.C3091T:p.L1031L;LAMA3:NM_001127717:exon25:c.C3091T:p.L1031L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.C3091T:p.L1031L;ENSG00000053747:ENST00000313654:exon25:c.C3091T:p.L1031L;	0.209856931558114	0.434
18	21417052	T	A	18	23837088	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.T3092A:p.L1031Q;LAMA3:NM_001127717:exon25:c.T3092A:p.L1031Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.T3092A:p.L1031Q;ENSG00000053747:ENST00000313654:exon25:c.T3092A:p.L1031Q;	0.793826812936664	0.624
18	21417052	T	C	18	23837088	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.T3092C:p.L1031P;LAMA3:NM_001127717:exon25:c.T3092C:p.L1031P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.T3092C:p.L1031P;ENSG00000053747:ENST00000313654:exon25:c.T3092C:p.L1031P;	0.978250790263345	0.8
18	21417052	T	G	18	23837088	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon25:c.T3092G:p.L1031R;LAMA3:NM_001127717:exon25:c.T3092G:p.L1031R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.T3092G:p.L1031R;ENSG00000053747:ENST00000313654:exon25:c.T3092G:p.L1031R;	0.986259258730641	0.888
18	21417053	G	A	18	23837089	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon25:c.G3093A:p.L1031L;LAMA3:NM_001127717:exon25:c.G3093A:p.L1031L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.G3093A:p.L1031L;ENSG00000053747:ENST00000313654:exon25:c.G3093A:p.L1031L;	0.999984312380115	1.0
18	21417053	G	C	18	23837089	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon25:c.G3093C:p.L1031L;LAMA3:NM_001127717:exon25:c.G3093C:p.L1031L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.G3093C:p.L1031L;ENSG00000053747:ENST00000313654:exon25:c.G3093C:p.L1031L;	0.99999272954418	0.978
18	21417053	G	T	18	23837089	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon25:c.G3093T:p.L1031L;LAMA3:NM_001127717:exon25:c.G3093T:p.L1031L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon25:c.G3093T:p.L1031L;ENSG00000053747:ENST00000313654:exon25:c.G3093T:p.L1031L;	0.999978755405037	0.962
18	21417054	G	A	18	23837090	y	y	splicing	LAMA3(NM_001127717:exon25:c.3093+1G>A;NM_198129:exon25:c.3093+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.3093+1G>A;ENST00000399516:exon25:c.3093+1G>A)	.	.	0.999992425382947	0.94
18	21417054	G	C	18	23837090	y	y	splicing	LAMA3(NM_001127717:exon25:c.3093+1G>C;NM_198129:exon25:c.3093+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.3093+1G>C;ENST00000399516:exon25:c.3093+1G>C)	.	.	0.999992425382947	0.94
18	21417054	G	T	18	23837090	y	y	splicing	LAMA3(NM_001127717:exon25:c.3093+1G>T;NM_198129:exon25:c.3093+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.3093+1G>T;ENST00000399516:exon25:c.3093+1G>T)	.	.	0.999992425382947	0.94
18	21417055	T	A	18	23837091	y	y	splicing	LAMA3(NM_001127717:exon25:c.3093+2T>A;NM_198129:exon25:c.3093+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.3093+2T>A;ENST00000399516:exon25:c.3093+2T>A)	.	.	0.999990764389106	0.942
18	21417055	T	C	18	23837091	y	y	splicing	LAMA3(NM_001127717:exon25:c.3093+2T>C;NM_198129:exon25:c.3093+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.3093+2T>C;ENST00000399516:exon25:c.3093+2T>C)	.	.	0.999933373721707	0.914
18	21417055	T	G	18	23837091	y	y	splicing	LAMA3(NM_001127717:exon25:c.3093+2T>G;NM_198129:exon25:c.3093+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon25:c.3093+2T>G;ENST00000399516:exon25:c.3093+2T>G)	.	.	0.999990764389106	0.942
18	21417056	A	C	18	23837092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999917988555966	0.974
18	21417056	A	G	18	23837092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999211978337076	0.886
18	21417056	A	T	18	23837092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999957095837882	0.968
18	21417057	T	A	18	23837093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.28404372670442E-5	0.022
18	21417057	T	C	18	23837093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.75702844296456E-5	0.012
18	21417057	T	G	18	23837093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.23839812866972E-4	0.032
18	21417058	G	A	18	23837094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999971829791999	1.0
18	21417058	G	C	18	23837094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999978158914731	0.994
18	21417058	G	T	18	23837094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999981145817504	0.972
18	21417059	C	A	18	23837095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.44619598631259E-4	0.036
18	21417059	C	G	18	23837095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.60798887200227E-5	0.098
18	21417059	C	T	18	23837095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.0815594409041E-4	0.038
18	21417060	T	A	18	23837096	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.4919163553804E-4	0.01
18	21417060	T	C	18	23837096	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.4919163553804E-4	0.008
18	21417060	T	G	18	23837096	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.61712472107637E-4	0.018
18	21417061	T	A	18	23837097	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00134490592289954	0.198
18	21417061	T	C	18	23837097	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.05071566666304E-4	0.002
18	21417061	T	G	18	23837097	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00254375944497201	0.204
18	21418733	T	A	18	23838769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.940458102052087	0.768
18	21418733	T	C	18	23838769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00216432911778246	0.052
18	21418733	T	G	18	23838769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999959093274481	0.97
18	21418734	T	A	18	23838770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.969952712650738	0.848
18	21418734	T	C	18	23838770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.105970666421103	0.366
18	21418734	T	G	18	23838770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.810710526707074	0.708
18	21418735	T	A	18	23838771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999955466131281	0.968
18	21418735	T	C	18	23838771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0094646203572552	0.118
18	21418735	T	G	18	23838771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998228784763469	0.85
18	21418736	G	A	18	23838772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00240652528190749	0.058
18	21418736	G	C	18	23838772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.87233858353496E-4	0.022
18	21418736	G	T	18	23838772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.05809808622457E-4	0.022
18	21418737	C	A	18	23838773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00268950929818102	0.132
18	21418737	C	G	18	23838773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00264934286352812	0.134
18	21418737	C	T	18	23838773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.18148209378846E-5	0.002
18	21418738	T	A	18	23838774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.930607343811178	0.63
18	21418738	T	C	18	23838774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.33971033895606E-5	0.034
18	21418738	T	G	18	23838774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.800338650263124	0.56
18	21418739	C	A	18	23838775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00268245422569391	0.312
18	21418739	C	G	18	23838775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0691531246091392	0.424
18	21418739	C	T	18	23838775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57667253187434E-5	0.026
18	21418740	A	C	18	23838776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.09905654818994E-5	0.032
18	21418740	A	G	18	23838776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.97948379278441E-5	0.006
18	21418740	A	T	18	23838776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.09905654818994E-5	0.04
18	21418741	C	A	18	23838777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.23643415437845E-4	0.05
18	21418741	C	G	18	23838777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991541236656398	0.948
18	21418741	C	T	18	23838777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00137905378374667	0.078
18	21418742	T	A	18	23838778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.515220216094129	0.478
18	21418742	T	C	18	23838778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.53390652187055E-5	0.028
18	21418742	T	G	18	23838778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.960864327882642	0.708
18	21418743	A	C	18	23838779	y	y	splicing	LAMA3(NM_001127717:exon26:c.3094-2A>C;NM_198129:exon26:c.3094-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3094-2A>C;ENST00000399516:exon26:c.3094-2A>C)	.	.	0.999979394981131	0.924
18	21418743	A	G	18	23838779	y	y	splicing	LAMA3(NM_001127717:exon26:c.3094-2A>G;NM_198129:exon26:c.3094-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3094-2A>G;ENST00000399516:exon26:c.3094-2A>G)	.	.	0.999979394981131	0.924
18	21418743	A	T	18	23838779	y	y	splicing	LAMA3(NM_001127717:exon26:c.3094-2A>T;NM_198129:exon26:c.3094-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3094-2A>T;ENST00000399516:exon26:c.3094-2A>T)	.	.	0.999979394981131	0.924
18	21418744	G	A	18	23838780	y	y	splicing	LAMA3(NM_001127717:exon26:c.3094-1G>A;NM_198129:exon26:c.3094-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3094-1G>A;ENST00000399516:exon26:c.3094-1G>A)	.	.	0.999974634749143	0.92
18	21418744	G	C	18	23838780	y	y	splicing	LAMA3(NM_001127717:exon26:c.3094-1G>C;NM_198129:exon26:c.3094-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3094-1G>C;ENST00000399516:exon26:c.3094-1G>C)	.	.	0.999974634749143	0.92
18	21418744	G	T	18	23838780	y	y	splicing	LAMA3(NM_001127717:exon26:c.3094-1G>T;NM_198129:exon26:c.3094-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3094-1G>T;ENST00000399516:exon26:c.3094-1G>T)	.	.	0.999974634749143	0.92
18	21418745	C	A	18	23838781	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.C3094A:p.H1032N;LAMA3:NM_001127717:exon26:c.C3094A:p.H1032N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.C3094A:p.H1032N;ENSG00000053747:ENST00000313654:exon26:c.C3094A:p.H1032N;	3.98211760405785E-4	0.054
18	21418745	C	G	18	23838781	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.C3094G:p.H1032D;LAMA3:NM_001127717:exon26:c.C3094G:p.H1032D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.C3094G:p.H1032D;ENSG00000053747:ENST00000313654:exon26:c.C3094G:p.H1032D;	0.00215748518381739	0.194
18	21418745	C	T	18	23838781	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.C3094T:p.H1032Y;LAMA3:NM_001127717:exon26:c.C3094T:p.H1032Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.C3094T:p.H1032Y;ENSG00000053747:ENST00000313654:exon26:c.C3094T:p.H1032Y;	0.0043094795547798	0.298
18	21418746	A	C	18	23838782	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.A3095C:p.H1032P;LAMA3:NM_001127717:exon26:c.A3095C:p.H1032P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3095C:p.H1032P;ENSG00000053747:ENST00000313654:exon26:c.A3095C:p.H1032P;	0.84187989949639	0.834
18	21418746	A	G	18	23838782	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.A3095G:p.H1032R;LAMA3:NM_001127717:exon26:c.A3095G:p.H1032R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3095G:p.H1032R;ENSG00000053747:ENST00000313654:exon26:c.A3095G:p.H1032R;	0.886734218602333	0.774
18	21418746	A	T	18	23838782	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.A3095T:p.H1032L;LAMA3:NM_001127717:exon26:c.A3095T:p.H1032L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3095T:p.H1032L;ENSG00000053747:ENST00000313654:exon26:c.A3095T:p.H1032L;	0.86116488068685	0.76
18	21418840	A	C	18	23838876	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.A3189C:p.Q1063H;LAMA3:NM_001127717:exon26:c.A3189C:p.Q1063H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3189C:p.Q1063H;ENSG00000053747:ENST00000313654:exon26:c.A3189C:p.Q1063H;	2.58536711918237E-5	0.024
18	21418840	A	G	18	23838876	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon26:c.A3189G:p.Q1063Q;LAMA3:NM_001127717:exon26:c.A3189G:p.Q1063Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3189G:p.Q1063Q;ENSG00000053747:ENST00000313654:exon26:c.A3189G:p.Q1063Q;	5.50698116560403E-5	0.0
18	21418840	A	T	18	23838876	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.A3189T:p.Q1063H;LAMA3:NM_001127717:exon26:c.A3189T:p.Q1063H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3189T:p.Q1063H;ENSG00000053747:ENST00000313654:exon26:c.A3189T:p.Q1063H;	0.0158426126782067	0.236
18	21418841	A	C	18	23838877	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.A3190C:p.S1064R;LAMA3:NM_001127717:exon26:c.A3190C:p.S1064R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3190C:p.S1064R;ENSG00000053747:ENST00000313654:exon26:c.A3190C:p.S1064R;	0.999124424191354	0.98
18	21418841	A	G	18	23838877	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.A3190G:p.S1064G;LAMA3:NM_001127717:exon26:c.A3190G:p.S1064G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3190G:p.S1064G;ENSG00000053747:ENST00000313654:exon26:c.A3190G:p.S1064G;	0.999901422667549	0.994
18	21418841	A	T	18	23838877	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.A3190T:p.S1064C;LAMA3:NM_001127717:exon26:c.A3190T:p.S1064C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.A3190T:p.S1064C;ENSG00000053747:ENST00000313654:exon26:c.A3190T:p.S1064C;	0.999902887093245	1.0
18	21418842	G	A	18	23838878	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.G3191A:p.S1064N;LAMA3:NM_001127717:exon26:c.G3191A:p.S1064N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.G3191A:p.S1064N;ENSG00000053747:ENST00000313654:exon26:c.G3191A:p.S1064N;	0.999994222381975	1.0
18	21418842	G	C	18	23838878	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.G3191C:p.S1064T;LAMA3:NM_001127717:exon26:c.G3191C:p.S1064T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.G3191C:p.S1064T;ENSG00000053747:ENST00000313654:exon26:c.G3191C:p.S1064T;	0.999997467131986	1.0
18	21418842	G	T	18	23838878	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon26:c.G3191T:p.S1064I;LAMA3:NM_001127717:exon26:c.G3191T:p.S1064I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon26:c.G3191T:p.S1064I;ENSG00000053747:ENST00000313654:exon26:c.G3191T:p.S1064I;	0.999993018555097	1.0
18	21418843	G	A	18	23838879	y	y	splicing	LAMA3(NM_001127717:exon26:c.3191+1G>A;NM_198129:exon26:c.3191+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3191+1G>A;ENST00000399516:exon26:c.3191+1G>A)	.	.	0.999982737877662	0.948
18	21418843	G	C	18	23838879	y	y	splicing	LAMA3(NM_001127717:exon26:c.3191+1G>C;NM_198129:exon26:c.3191+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3191+1G>C;ENST00000399516:exon26:c.3191+1G>C)	.	.	0.99995545544995	0.94
18	21418843	G	T	18	23838879	y	y	splicing	LAMA3(NM_001127717:exon26:c.3191+1G>T;NM_198129:exon26:c.3191+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3191+1G>T;ENST00000399516:exon26:c.3191+1G>T)	.	.	0.999982737877662	0.942
18	21418844	T	A	18	23838880	y	y	splicing	LAMA3(NM_001127717:exon26:c.3191+2T>A;NM_198129:exon26:c.3191+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3191+2T>A;ENST00000399516:exon26:c.3191+2T>A)	.	.	0.99994568797423	0.944
18	21418844	T	C	18	23838880	y	y	splicing	LAMA3(NM_001127717:exon26:c.3191+2T>C;NM_198129:exon26:c.3191+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3191+2T>C;ENST00000399516:exon26:c.3191+2T>C)	.	.	0.985124993549982	0.728
18	21418844	T	G	18	23838880	y	y	splicing	LAMA3(NM_001127717:exon26:c.3191+2T>G;NM_198129:exon26:c.3191+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon26:c.3191+2T>G;ENST00000399516:exon26:c.3191+2T>G)	.	.	0.99994568797423	0.946
18	21418845	A	C	18	23838881	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999352580686624	0.904
18	21418845	A	G	18	23838881	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.941294200684113	0.592
18	21418845	A	T	18	23838881	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999176657823124	0.896
18	21418846	A	C	18	23838882	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0316925397940183	0.336
18	21418846	A	G	18	23838882	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.827447496081076	0.548
18	21418846	A	T	18	23838882	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.249890238285867	0.452
18	21418847	T	A	18	23838883	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.22457382890493E-4	0.002
18	21418847	T	C	18	23838883	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.5566715376318E-4	0.0
18	21418847	T	G	18	23838883	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.1102612586368E-4	0.134
18	21418848	G	A	18	23838884	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.44546696119004E-5	0.004
18	21418848	G	C	18	23838884	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.31738821347236E-4	0.05
18	21418848	G	T	18	23838884	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.95048459408849E-5	0.0
18	21418849	T	A	18	23838885	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.34600597977734E-4	0.002
18	21418849	T	C	18	23838885	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.4058434838966E-5	0.002
18	21418849	T	G	18	23838885	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.32041120723801E-5	0.002
18	21418850	G	A	18	23838886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.81677188745857E-5	0.0
18	21418850	G	C	18	23838886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.29120792020098E-4	0.026
18	21418850	G	T	18	23838886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.400853419136E-5	0.0
18	21419737	T	A	18	23839773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00687958875754118	0.272
18	21419737	T	C	18	23839773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.85776232693497E-4	0.024
18	21419737	T	G	18	23839773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.015880198454706	0.338
18	21419738	C	A	18	23839774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.3912775278074E-5	0.016
18	21419738	C	G	18	23839774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.33499972482326E-5	0.048
18	21419738	C	T	18	23839774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.89317473822291E-5	0.0
18	21419739	T	A	18	23839775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00747848556447077	0.314
18	21419739	T	C	18	23839775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00105927612992376	0.07
18	21419739	T	G	18	23839775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0106171817378908	0.368
18	21419740	A	C	18	23839776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.41351406781139E-5	0.008
18	21419740	A	G	18	23839776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.15520201518176E-5	0.0
18	21419740	A	T	18	23839776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20175216104126E-5	0.002
18	21419741	T	A	18	23839777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00635236898711749	0.094
18	21419741	T	C	18	23839777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.43061940867326E-4	0.004
18	21419741	T	G	18	23839777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998906128673681	0.976
18	21419742	T	A	18	23839778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00923480218007476	0.16
18	21419742	T	C	18	23839778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.08452295152285E-5	0.038
18	21419742	T	G	18	23839778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00704255737261629	0.132
18	21419743	T	A	18	23839779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.971713944309776	0.612
18	21419743	T	C	18	23839779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00140675768091623	0.076
18	21419743	T	G	18	23839779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.904400448541064	0.538
18	21419744	T	A	18	23839780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.863247055231554	0.512
18	21419744	T	C	18	23839780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0443908894355516	0.152
18	21419744	T	G	18	23839780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.976479983026799	0.56
18	21419745	T	A	18	23839781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.29539237353949E-4	0.032
18	21419745	T	C	18	23839781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.64777725323712E-4	0.006
18	21419745	T	G	18	23839781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.02233995230614E-4	0.014
18	21419746	C	A	18	23839782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.791272466230002	0.692
18	21419746	C	G	18	23839782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999102825399086	0.958
18	21419746	C	T	18	23839782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0148876301831206	0.058
18	21419747	A	C	18	23839783	y	y	splicing	LAMA3(NM_001127717:exon27:c.3192-2A>C;NM_198129:exon27:c.3192-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3192-2A>C;ENST00000399516:exon27:c.3192-2A>C)	.	.	0.999988247793601	0.922
18	21419747	A	G	18	23839783	y	y	splicing	LAMA3(NM_001127717:exon27:c.3192-2A>G;NM_198129:exon27:c.3192-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3192-2A>G;ENST00000399516:exon27:c.3192-2A>G)	.	.	0.999988247793601	0.922
18	21419747	A	T	18	23839783	y	y	splicing	LAMA3(NM_001127717:exon27:c.3192-2A>T;NM_198129:exon27:c.3192-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3192-2A>T;ENST00000399516:exon27:c.3192-2A>T)	.	.	0.999988247793601	0.922
18	21419748	G	A	18	23839784	y	y	splicing	LAMA3(NM_001127717:exon27:c.3192-1G>A;NM_198129:exon27:c.3192-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3192-1G>A;ENST00000399516:exon27:c.3192-1G>A)	.	.	0.999985532734767	0.932
18	21419748	G	C	18	23839784	y	y	splicing	LAMA3(NM_001127717:exon27:c.3192-1G>C;NM_198129:exon27:c.3192-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3192-1G>C;ENST00000399516:exon27:c.3192-1G>C)	.	.	0.999985532734767	0.932
18	21419748	G	T	18	23839784	y	y	splicing	LAMA3(NM_001127717:exon27:c.3192-1G>T;NM_198129:exon27:c.3192-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3192-1G>T;ENST00000399516:exon27:c.3192-1G>T)	.	.	0.999985532734767	0.932
18	21419749	T	A	18	23839785	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.T3192A:p.S1064R;LAMA3:NM_001127717:exon27:c.T3192A:p.S1064R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.T3192A:p.S1064R;ENSG00000053747:ENST00000313654:exon27:c.T3192A:p.S1064R;	2.26361628730609E-5	0.018
18	21419749	T	C	18	23839785	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon27:c.T3192C:p.S1064S;LAMA3:NM_001127717:exon27:c.T3192C:p.S1064S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.T3192C:p.S1064S;ENSG00000053747:ENST00000313654:exon27:c.T3192C:p.S1064S;	3.49923010521119E-5	0.014
18	21419749	T	G	18	23839785	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.T3192G:p.S1064R;LAMA3:NM_001127717:exon27:c.T3192G:p.S1064R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.T3192G:p.S1064R;ENSG00000053747:ENST00000313654:exon27:c.T3192G:p.S1064R;	4.76489108633524E-5	0.118
18	21419750	G	A	18	23839786	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.G3193A:p.A1065T;LAMA3:NM_001127717:exon27:c.G3193A:p.A1065T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.G3193A:p.A1065T;ENSG00000053747:ENST00000313654:exon27:c.G3193A:p.A1065T;	0.987956007011524	0.674
18	21419750	G	C	18	23839786	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.G3193C:p.A1065P;LAMA3:NM_001127717:exon27:c.G3193C:p.A1065P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.G3193C:p.A1065P;ENSG00000053747:ENST00000313654:exon27:c.G3193C:p.A1065P;	0.058816608815181	0.236
18	21419750	G	T	18	23839786	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.G3193T:p.A1065S;LAMA3:NM_001127717:exon27:c.G3193T:p.A1065S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.G3193T:p.A1065S;ENSG00000053747:ENST00000313654:exon27:c.G3193T:p.A1065S;	0.00836383015107828	0.06
18	21419891	C	A	18	23839927	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.C3334A:p.Q1112K;LAMA3:NM_001127717:exon27:c.C3334A:p.Q1112K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.C3334A:p.Q1112K;ENSG00000053747:ENST00000313654:exon27:c.C3334A:p.Q1112K;	0.962343753234291	0.798
18	21419891	C	G	18	23839927	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.C3334G:p.Q1112E;LAMA3:NM_001127717:exon27:c.C3334G:p.Q1112E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.C3334G:p.Q1112E;ENSG00000053747:ENST00000313654:exon27:c.C3334G:p.Q1112E;	0.986598222179303	0.72
18	21419891	C	T	18	23839927	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon27:c.C3334T:p.Q1112X;LAMA3:NM_001127717:exon27:c.C3334T:p.Q1112X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon27:c.C3334T:p.Q1112X;ENSG00000053747:ENST00000313654:exon27:c.C3334T:p.Q1112X;	0.999885081262904	0.996
18	21419892	A	C	18	23839928	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.A3335C:p.Q1112P;LAMA3:NM_001127717:exon27:c.A3335C:p.Q1112P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.A3335C:p.Q1112P;ENSG00000053747:ENST00000313654:exon27:c.A3335C:p.Q1112P;	0.999977975625679	1.0
18	21419892	A	G	18	23839928	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.A3335G:p.Q1112R;LAMA3:NM_001127717:exon27:c.A3335G:p.Q1112R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.A3335G:p.Q1112R;ENSG00000053747:ENST00000313654:exon27:c.A3335G:p.Q1112R;	0.999977975625679	1.0
18	21419892	A	T	18	23839928	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.A3335T:p.Q1112L;LAMA3:NM_001127717:exon27:c.A3335T:p.Q1112L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.A3335T:p.Q1112L;ENSG00000053747:ENST00000313654:exon27:c.A3335T:p.Q1112L;	0.999977085519003	1.0
18	21419893	G	A	18	23839929	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon27:c.G3336A:p.Q1112Q;LAMA3:NM_001127717:exon27:c.G3336A:p.Q1112Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.G3336A:p.Q1112Q;ENSG00000053747:ENST00000313654:exon27:c.G3336A:p.Q1112Q;	0.999981136311292	0.998
18	21419893	G	C	18	23839929	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.G3336C:p.Q1112H;LAMA3:NM_001127717:exon27:c.G3336C:p.Q1112H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.G3336C:p.Q1112H;ENSG00000053747:ENST00000313654:exon27:c.G3336C:p.Q1112H;	0.999997424211608	0.998
18	21419893	G	T	18	23839929	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon27:c.G3336T:p.Q1112H;LAMA3:NM_001127717:exon27:c.G3336T:p.Q1112H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon27:c.G3336T:p.Q1112H;ENSG00000053747:ENST00000313654:exon27:c.G3336T:p.Q1112H;	0.999991945276243	0.998
18	21419894	G	A	18	23839930	y	y	splicing	LAMA3(NM_001127717:exon27:c.3336+1G>A;NM_198129:exon27:c.3336+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3336+1G>A;ENST00000399516:exon27:c.3336+1G>A)	.	.	0.999985532734767	0.948
18	21419894	G	C	18	23839930	y	y	splicing	LAMA3(NM_001127717:exon27:c.3336+1G>C;NM_198129:exon27:c.3336+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3336+1G>C;ENST00000399516:exon27:c.3336+1G>C)	.	.	0.999985532734767	0.948
18	21419894	G	T	18	23839930	y	y	splicing	LAMA3(NM_001127717:exon27:c.3336+1G>T;NM_198129:exon27:c.3336+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3336+1G>T;ENST00000399516:exon27:c.3336+1G>T)	.	.	0.999985532734767	0.948
18	21419895	T	A	18	23839931	y	y	splicing	LAMA3(NM_001127717:exon27:c.3336+2T>A;NM_198129:exon27:c.3336+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3336+2T>A;ENST00000399516:exon27:c.3336+2T>A)	.	.	0.999988247793601	0.95
18	21419895	T	C	18	23839931	y	y	splicing	LAMA3(NM_001127717:exon27:c.3336+2T>C;NM_198129:exon27:c.3336+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3336+2T>C;ENST00000399516:exon27:c.3336+2T>C)	.	.	0.99340600729494	0.65
18	21419895	T	G	18	23839931	y	y	splicing	LAMA3(NM_001127717:exon27:c.3336+2T>G;NM_198129:exon27:c.3336+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon27:c.3336+2T>G;ENST00000399516:exon27:c.3336+2T>G)	.	.	0.999988247793601	0.95
18	21419896	A	C	18	23839932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999952382535628	0.964
18	21419896	A	G	18	23839932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999469304496805	0.884
18	21419896	A	T	18	23839932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999934977898486	0.964
18	21419897	G	A	18	23839933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.21590702391078E-4	0.05
18	21419897	G	C	18	23839933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.74543191911873E-5	0.19
18	21419897	G	T	18	23839933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.35421634545726E-4	0.014
18	21419898	T	A	18	23839934	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.72836078237423E-5	0.004
18	21419898	T	C	18	23839934	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.14381476760246E-5	0.008
18	21419898	T	G	18	23839934	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.57677636584827E-4	0.034
18	21419899	G	A	18	23839935	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.5533608701182E-4	0.068
18	21419899	G	C	18	23839935	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.19312004853522E-4	0.052
18	21419899	G	T	18	23839935	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.07074949149322E-5	0.07
18	21419900	T	A	18	23839936	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.62866975611254E-5	0.0
18	21419900	T	C	18	23839936	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.52618072105622E-5	0.0
18	21419900	T	G	18	23839936	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.86894807564048E-5	0.0
18	21419901	G	A	18	23839937	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.72511202816204E-4	0.026
18	21419901	G	C	18	23839937	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.05287034511768E-4	0.0
18	21419901	G	T	18	23839937	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.08731809191735E-4	0.006
18	21422347	T	A	18	23842383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.15346693993407E-4	0.094
18	21422347	T	C	18	23842383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.28826535086248E-4	0.006
18	21422347	T	G	18	23842383	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.92885693861093E-4	0.12
18	21422348	T	A	18	23842384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.97552056636217E-4	0.166
18	21422348	T	C	18	23842384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.41428925543096E-4	0.026
18	21422348	T	G	18	23842384	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.86995416902303E-4	0.104
18	21422349	T	A	18	23842385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.87326252041539E-4	0.16
18	21422349	T	C	18	23842385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.11991379729213E-4	0.008
18	21422349	T	G	18	23842385	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.03587367826429E-4	0.224
18	21422350	T	A	18	23842386	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.29475252855683E-4	0.02
18	21422350	T	C	18	23842386	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.33561558021318E-5	0.002
18	21422350	T	G	18	23842386	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00487652173336E-4	0.046
18	21422351	C	A	18	23842387	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.94089116757123E-5	0.008
18	21422351	C	G	18	23842387	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.8624173710082E-5	0.008
18	21422351	C	T	18	23842387	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.68091962719234E-5	0.0
18	21422352	C	A	18	23842388	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.24737072063696E-4	0.018
18	21422352	C	G	18	23842388	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.01165097543783E-4	0.014
18	21422352	C	T	18	23842388	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.89640120569293E-5	0.002
18	21422353	T	A	18	23842389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.39692775620231E-4	0.084
18	21422353	T	C	18	23842389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.31407726038802E-4	0.0
18	21422353	T	G	18	23842389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00105003011574225	0.166
18	21422354	C	A	18	23842390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.97486036329098E-4	0.03
18	21422354	C	G	18	23842390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.22198313240664E-4	0.038
18	21422354	C	T	18	23842390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.01798465631183E-5	0.002
18	21422355	T	A	18	23842391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.8602170380055E-5	0.0
18	21422355	T	C	18	23842391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.39838764502043E-5	0.002
18	21422355	T	G	18	23842391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.46844991217429E-5	0.0
18	21422356	T	A	18	23842392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00249519807636928	0.15
18	21422356	T	C	18	23842392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.55024761491839E-5	0.01
18	21422356	T	G	18	23842392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.982432293978217	0.654
18	21422357	A	C	18	23842393	y	y	splicing	LAMA3(NM_001127717:exon28:c.3337-2A>C;NM_198129:exon28:c.3337-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3337-2A>C;ENST00000399516:exon28:c.3337-2A>C)	.	.	0.999988247793601	0.926
18	21422357	A	G	18	23842393	y	y	splicing	LAMA3(NM_001127717:exon28:c.3337-2A>G;NM_198129:exon28:c.3337-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3337-2A>G;ENST00000399516:exon28:c.3337-2A>G)	.	.	0.999988247793601	0.926
18	21422357	A	T	18	23842393	y	y	splicing	LAMA3(NM_001127717:exon28:c.3337-2A>T;NM_198129:exon28:c.3337-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3337-2A>T;ENST00000399516:exon28:c.3337-2A>T)	.	.	0.999988247793601	0.926
18	21422358	G	A	18	23842394	y	y	splicing	LAMA3(NM_001127717:exon28:c.3337-1G>A;NM_198129:exon28:c.3337-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3337-1G>A;ENST00000399516:exon28:c.3337-1G>A)	.	.	0.999985532734767	0.936
18	21422358	G	C	18	23842394	y	y	splicing	LAMA3(NM_001127717:exon28:c.3337-1G>C;NM_198129:exon28:c.3337-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3337-1G>C;ENST00000399516:exon28:c.3337-1G>C)	.	.	0.999985532734767	0.936
18	21422358	G	T	18	23842394	y	y	splicing	LAMA3(NM_001127717:exon28:c.3337-1G>T;NM_198129:exon28:c.3337-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3337-1G>T;ENST00000399516:exon28:c.3337-1G>T)	.	.	0.999985532734767	0.936
18	21422359	A	C	18	23842395	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.A3337C:p.N1113H;LAMA3:NM_001127717:exon28:c.A3337C:p.N1113H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3337C:p.N1113H;ENSG00000053747:ENST00000313654:exon28:c.A3337C:p.N1113H;	0.00741651161679932	0.086
18	21422359	A	G	18	23842395	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.A3337G:p.N1113D;LAMA3:NM_001127717:exon28:c.A3337G:p.N1113D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3337G:p.N1113D;ENSG00000053747:ENST00000313654:exon28:c.A3337G:p.N1113D;	2.07424695713049E-4	0.016
18	21422359	A	T	18	23842395	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.A3337T:p.N1113Y;LAMA3:NM_001127717:exon28:c.A3337T:p.N1113Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3337T:p.N1113Y;ENSG00000053747:ENST00000313654:exon28:c.A3337T:p.N1113Y;	0.00869994859124781	0.068
18	21422360	A	C	18	23842396	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.A3338C:p.N1113T;LAMA3:NM_001127717:exon28:c.A3338C:p.N1113T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3338C:p.N1113T;ENSG00000053747:ENST00000313654:exon28:c.A3338C:p.N1113T;	4.28529265584657E-4	0.01
18	21422360	A	G	18	23842396	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.A3338G:p.N1113S;LAMA3:NM_001127717:exon28:c.A3338G:p.N1113S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3338G:p.N1113S;ENSG00000053747:ENST00000313654:exon28:c.A3338G:p.N1113S;	5.42236414149829E-5	0.006
18	21422360	A	T	18	23842396	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.A3338T:p.N1113I;LAMA3:NM_001127717:exon28:c.A3338T:p.N1113I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3338T:p.N1113I;ENSG00000053747:ENST00000313654:exon28:c.A3338T:p.N1113I;	1.03183605917432E-4	0.018
18	21422483	C	A	18	23842519	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.C3461A:p.A1154E;LAMA3:NM_001127717:exon28:c.C3461A:p.A1154E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.C3461A:p.A1154E;ENSG00000053747:ENST00000313654:exon28:c.C3461A:p.A1154E;	0.0012004700660467	0.126
18	21422483	C	G	18	23842519	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.C3461G:p.A1154G;LAMA3:NM_001127717:exon28:c.C3461G:p.A1154G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.C3461G:p.A1154G;ENSG00000053747:ENST00000313654:exon28:c.C3461G:p.A1154G;	0.0647510606447455	0.268
18	21422483	C	T	18	23842519	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.C3461T:p.A1154V;LAMA3:NM_001127717:exon28:c.C3461T:p.A1154V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.C3461T:p.A1154V;ENSG00000053747:ENST00000313654:exon28:c.C3461T:p.A1154V;	0.874229970776945	0.728
18	21422484	A	C	18	23842520	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon28:c.A3462C:p.A1154A;LAMA3:NM_001127717:exon28:c.A3462C:p.A1154A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3462C:p.A1154A;ENSG00000053747:ENST00000313654:exon28:c.A3462C:p.A1154A;	0.558141248307487	0.626
18	21422484	A	G	18	23842520	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon28:c.A3462G:p.A1154A;LAMA3:NM_001127717:exon28:c.A3462G:p.A1154A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3462G:p.A1154A;ENSG00000053747:ENST00000313654:exon28:c.A3462G:p.A1154A;	0.321439247981845	0.546
18	21422484	A	T	18	23842520	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon28:c.A3462T:p.A1154A;LAMA3:NM_001127717:exon28:c.A3462T:p.A1154A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.A3462T:p.A1154A;ENSG00000053747:ENST00000313654:exon28:c.A3462T:p.A1154A;	0.370179424325114	0.714
18	21422485	G	A	18	23842521	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.G3463A:p.G1155S;LAMA3:NM_001127717:exon28:c.G3463A:p.G1155S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.G3463A:p.G1155S;ENSG00000053747:ENST00000313654:exon28:c.G3463A:p.G1155S;	0.999922720343604	0.988
18	21422485	G	C	18	23842521	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.G3463C:p.G1155R;LAMA3:NM_001127717:exon28:c.G3463C:p.G1155R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.G3463C:p.G1155R;ENSG00000053747:ENST00000313654:exon28:c.G3463C:p.G1155R;	0.999995318777843	1.0
18	21422485	G	T	18	23842521	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon28:c.G3463T:p.G1155C;LAMA3:NM_001127717:exon28:c.G3463T:p.G1155C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon28:c.G3463T:p.G1155C;ENSG00000053747:ENST00000313654:exon28:c.G3463T:p.G1155C;	0.999947298686971	0.996
18	21422486	G	A	18	23842522	y	y	splicing	LAMA3(NM_001127717:exon28:c.3463+1G>A;NM_198129:exon28:c.3463+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3463+1G>A;ENST00000399516:exon28:c.3463+1G>A)	.	.	0.999981760802075	0.944
18	21422486	G	C	18	23842522	y	y	splicing	LAMA3(NM_001127717:exon28:c.3463+1G>C;NM_198129:exon28:c.3463+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3463+1G>C;ENST00000399516:exon28:c.3463+1G>C)	.	.	0.999981760802075	0.944
18	21422486	G	T	18	23842522	y	y	splicing	LAMA3(NM_001127717:exon28:c.3463+1G>T;NM_198129:exon28:c.3463+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3463+1G>T;ENST00000399516:exon28:c.3463+1G>T)	.	.	0.999981760802075	0.944
18	21422487	T	A	18	23842523	y	y	splicing	LAMA3(NM_001127717:exon28:c.3463+2T>A;NM_198129:exon28:c.3463+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3463+2T>A;ENST00000399516:exon28:c.3463+2T>A)	.	.	0.999989917668626	0.94
18	21422487	T	C	18	23842523	y	y	splicing	LAMA3(NM_001127717:exon28:c.3463+2T>C;NM_198129:exon28:c.3463+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3463+2T>C;ENST00000399516:exon28:c.3463+2T>C)	.	.	0.999939711763648	0.87
18	21422487	T	G	18	23842523	y	y	splicing	LAMA3(NM_001127717:exon28:c.3463+2T>G;NM_198129:exon28:c.3463+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon28:c.3463+2T>G;ENST00000399516:exon28:c.3463+2T>G)	.	.	0.999989917668626	0.94
18	21422488	G	A	18	23842524	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.79024232197791E-4	0.034
18	21422488	G	C	18	23842524	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.355237838793119	0.476
18	21422488	G	T	18	23842524	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.970494361289602	0.556
18	21422489	A	C	18	23842525	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.340694174985677	0.37
18	21422489	A	G	18	23842525	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.118995752025404	0.326
18	21422489	A	T	18	23842525	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.746260028276257	0.536
18	21422490	G	A	18	23842526	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998440583721513	0.942
18	21422490	G	C	18	23842526	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.965084683767074	0.788
18	21422490	G	T	18	23842526	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994199724759973	0.862
18	21422491	C	A	18	23842527	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00181747687764257	0.044
18	21422491	C	G	18	23842527	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.98688408238416E-4	0.096
18	21422491	C	T	18	23842527	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.48470362423728E-4	0.038
18	21422492	T	A	18	23842528	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.1079430115993E-5	0.0
18	21422492	T	C	18	23842528	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.1079430115993E-5	0.004
18	21422492	T	G	18	23842528	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.08882707724309E-5	0.0
18	21422493	G	A	18	23842529	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.61972261286381E-5	0.0
18	21422493	G	C	18	23842529	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.61641856570693E-5	0.0
18	21422493	G	T	18	23842529	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.44314971230989E-5	0.0
18	21422563	T	A	18	23842599	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0458076503882081	0.196
18	21422563	T	C	18	23842599	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.38798664499242E-4	0.01
18	21422563	T	G	18	23842599	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0597810338301755	0.22
18	21422564	C	A	18	23842600	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00785358358665747	0.118
18	21422564	C	G	18	23842600	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.18448160532851E-4	0.098
18	21422564	C	T	18	23842600	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6586931612563E-4	0.01
18	21422565	T	A	18	23842601	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.49805376268906E-4	0.09
18	21422565	T	C	18	23842601	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.61341002983691E-5	0.006
18	21422565	T	G	18	23842601	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.307859782547E-4	0.098
18	21422566	C	A	18	23842602	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00189811118317171	0.034
18	21422566	C	G	18	23842602	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.13643692986303E-4	0.028
18	21422566	C	T	18	23842602	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.60593171601625E-5	0.0
18	21422567	T	A	18	23842603	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.63560557345608E-4	0.056
18	21422567	T	C	18	23842603	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.6778430270049E-5	0.012
18	21422567	T	G	18	23842603	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00244424540066965	0.128
18	21422568	C	A	18	23842604	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0010056140377603	0.084
18	21422568	C	G	18	23842604	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.83391017015994E-4	0.078
18	21422568	C	T	18	23842604	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.97564616076715E-5	0.0
18	21422569	T	A	18	23842605	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999789888774202	0.95
18	21422569	T	C	18	23842605	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.03521481578192E-5	0.004
18	21422569	T	G	18	23842605	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.02916959204067E-4	0.068
18	21422570	G	A	18	23842606	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.24012330980634E-5	0.004
18	21422570	G	C	18	23842606	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.09148090113171E-5	0.002
18	21422570	G	T	18	23842606	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.60324438241839E-5	0.002
18	21422571	C	A	18	23842607	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09129257184079E-5	0.0
18	21422571	C	G	18	23842607	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.97000511494892E-5	0.002
18	21422571	C	T	18	23842607	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.76140344365521E-5	0.0
18	21422572	C	A	18	23842608	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.937187811446309	0.712
18	21422572	C	G	18	23842608	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.974654863771294	0.802
18	21422572	C	T	18	23842608	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00281670093692856	0.038
18	21422573	A	C	18	23842609	y	y	splicing	LAMA3(NM_001127717:exon29:c.3464-2A>C;NM_198129:exon29:c.3464-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3464-2A>C;ENST00000399516:exon29:c.3464-2A>C)	.	.	0.999988247793601	0.928
18	21422573	A	G	18	23842609	y	y	splicing	LAMA3(NM_001127717:exon29:c.3464-2A>G;NM_198129:exon29:c.3464-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3464-2A>G;ENST00000399516:exon29:c.3464-2A>G)	.	.	0.999988247793601	0.928
18	21422573	A	T	18	23842609	y	y	splicing	LAMA3(NM_001127717:exon29:c.3464-2A>T;NM_198129:exon29:c.3464-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3464-2A>T;ENST00000399516:exon29:c.3464-2A>T)	.	.	0.999988247793601	0.928
18	21422574	G	A	18	23842610	y	y	splicing	LAMA3(NM_001127717:exon29:c.3464-1G>A;NM_198129:exon29:c.3464-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3464-1G>A;ENST00000399516:exon29:c.3464-1G>A)	.	.	0.999985532734767	0.936
18	21422574	G	C	18	23842610	y	y	splicing	LAMA3(NM_001127717:exon29:c.3464-1G>C;NM_198129:exon29:c.3464-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3464-1G>C;ENST00000399516:exon29:c.3464-1G>C)	.	.	0.999985532734767	0.936
18	21422574	G	T	18	23842610	y	y	splicing	LAMA3(NM_001127717:exon29:c.3464-1G>T;NM_198129:exon29:c.3464-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3464-1G>T;ENST00000399516:exon29:c.3464-1G>T)	.	.	0.999985532734767	0.936
18	21422575	G	A	18	23842611	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.G3464A:p.G1155D;LAMA3:NM_001127717:exon29:c.G3464A:p.G1155D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.G3464A:p.G1155D;ENSG00000053747:ENST00000313654:exon29:c.G3464A:p.G1155D;	0.997541777813408	0.88
18	21422575	G	C	18	23842611	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.G3464C:p.G1155A;LAMA3:NM_001127717:exon29:c.G3464C:p.G1155A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.G3464C:p.G1155A;ENSG00000053747:ENST00000313654:exon29:c.G3464C:p.G1155A;	0.999790556555154	0.99
18	21422575	G	T	18	23842611	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.G3464T:p.G1155V;LAMA3:NM_001127717:exon29:c.G3464T:p.G1155V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.G3464T:p.G1155V;ENSG00000053747:ENST00000313654:exon29:c.G3464T:p.G1155V;	0.999664891108419	0.972
18	21422576	C	A	18	23842612	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon29:c.C3465A:p.G1155G;LAMA3:NM_001127717:exon29:c.C3465A:p.G1155G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.C3465A:p.G1155G;ENSG00000053747:ENST00000313654:exon29:c.C3465A:p.G1155G;	1.21884204485435E-4	0.006
18	21422576	C	G	18	23842612	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon29:c.C3465G:p.G1155G;LAMA3:NM_001127717:exon29:c.C3465G:p.G1155G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.C3465G:p.G1155G;ENSG00000053747:ENST00000313654:exon29:c.C3465G:p.G1155G;	5.93814285889763E-5	0.0
18	21422576	C	T	18	23842612	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon29:c.C3465T:p.G1155G;LAMA3:NM_001127717:exon29:c.C3465T:p.G1155G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.C3465T:p.G1155G;ENSG00000053747:ENST00000313654:exon29:c.C3465T:p.G1155G;	2.10641336236244E-5	0.006
18	21422712	T	A	18	23842748	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.T3601A:p.L1201M;LAMA3:NM_001127717:exon29:c.T3601A:p.L1201M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.T3601A:p.L1201M;ENSG00000053747:ENST00000313654:exon29:c.T3601A:p.L1201M;	5.95677483402465E-5	0.312
18	21422712	T	C	18	23842748	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon29:c.T3601C:p.L1201L;LAMA3:NM_001127717:exon29:c.T3601C:p.L1201L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.T3601C:p.L1201L;ENSG00000053747:ENST00000313654:exon29:c.T3601C:p.L1201L;	3.8352311025659E-5	0.0
18	21422712	T	G	18	23842748	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.T3601G:p.L1201V;LAMA3:NM_001127717:exon29:c.T3601G:p.L1201V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.T3601G:p.L1201V;ENSG00000053747:ENST00000313654:exon29:c.T3601G:p.L1201V;	1.00928511492648E-4	0.124
18	21422713	T	A	18	23842749	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon29:c.T3602A:p.L1201X;LAMA3:NM_001127717:exon29:c.T3602A:p.L1201X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon29:c.T3602A:p.L1201X;ENSG00000053747:ENST00000313654:exon29:c.T3602A:p.L1201X;	0.0947399989332765	0.562
18	21422713	T	C	18	23842749	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.T3602C:p.L1201S;LAMA3:NM_001127717:exon29:c.T3602C:p.L1201S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.T3602C:p.L1201S;ENSG00000053747:ENST00000313654:exon29:c.T3602C:p.L1201S;	0.566507478541836	0.55
18	21422713	T	G	18	23842749	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.T3602G:p.L1201W;LAMA3:NM_001127717:exon29:c.T3602G:p.L1201W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.T3602G:p.L1201W;ENSG00000053747:ENST00000313654:exon29:c.T3602G:p.L1201W;	0.397646773899178	0.358
18	21422714	G	A	18	23842750	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon29:c.G3603A:p.L1201L;LAMA3:NM_001127717:exon29:c.G3603A:p.L1201L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.G3603A:p.L1201L;ENSG00000053747:ENST00000313654:exon29:c.G3603A:p.L1201L;	0.999991324261329	1.0
18	21422714	G	C	18	23842750	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.G3603C:p.L1201F;LAMA3:NM_001127717:exon29:c.G3603C:p.L1201F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.G3603C:p.L1201F;ENSG00000053747:ENST00000313654:exon29:c.G3603C:p.L1201F;	0.999995335518172	0.986
18	21422714	G	T	18	23842750	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon29:c.G3603T:p.L1201F;LAMA3:NM_001127717:exon29:c.G3603T:p.L1201F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon29:c.G3603T:p.L1201F;ENSG00000053747:ENST00000313654:exon29:c.G3603T:p.L1201F;	0.999994042115686	0.998
18	21422715	G	A	18	23842751	y	y	splicing	LAMA3(NM_001127717:exon29:c.3603+1G>A;NM_198129:exon29:c.3603+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3603+1G>A;ENST00000399516:exon29:c.3603+1G>A)	.	.	0.999993444959628	0.92
18	21422715	G	C	18	23842751	y	y	splicing	LAMA3(NM_001127717:exon29:c.3603+1G>C;NM_198129:exon29:c.3603+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3603+1G>C;ENST00000399516:exon29:c.3603+1G>C)	.	.	0.999993444959628	0.92
18	21422715	G	T	18	23842751	y	y	splicing	LAMA3(NM_001127717:exon29:c.3603+1G>T;NM_198129:exon29:c.3603+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3603+1G>T;ENST00000399516:exon29:c.3603+1G>T)	.	.	0.999993444959628	0.92
18	21422716	T	A	18	23842752	y	y	splicing	LAMA3(NM_001127717:exon29:c.3603+2T>A;NM_198129:exon29:c.3603+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3603+2T>A;ENST00000399516:exon29:c.3603+2T>A)	.	.	0.999992007541056	0.922
18	21422716	T	C	18	23842752	y	y	splicing	LAMA3(NM_001127717:exon29:c.3603+2T>C;NM_198129:exon29:c.3603+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3603+2T>C;ENST00000399516:exon29:c.3603+2T>C)	.	.	0.999909269437711	0.868
18	21422716	T	G	18	23842752	y	y	splicing	LAMA3(NM_001127717:exon29:c.3603+2T>G;NM_198129:exon29:c.3603+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon29:c.3603+2T>G;ENST00000399516:exon29:c.3603+2T>G)	.	.	0.999992007541056	0.922
18	21422717	G	A	18	23842753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.1425908368647E-4	0.048
18	21422717	G	C	18	23842753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992901087734551	0.77
18	21422717	G	T	18	23842753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.913439406653668	0.718
18	21422718	C	A	18	23842754	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.65734438637455E-4	0.022
18	21422718	C	G	18	23842754	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.78751402348092E-4	0.04
18	21422718	C	T	18	23842754	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00394436880663043	0.074
18	21422719	G	A	18	23842755	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99998939365431	0.978
18	21422719	G	C	18	23842755	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99998860033457	0.978
18	21422719	G	T	18	23842755	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999988494247757	0.958
18	21422720	T	A	18	23842756	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.96534490676156	0.778
18	21422720	T	C	18	23842756	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.512577140731605	0.722
18	21422720	T	G	18	23842756	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.978810404254617	0.75
18	21422721	T	A	18	23842757	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.03123400169606E-4	0.164
18	21422721	T	C	18	23842757	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.34119968715825E-4	0.174
18	21422721	T	G	18	23842757	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.34119968715825E-4	0.176
18	21422722	C	A	18	23842758	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00768258697609136	0.106
18	21422722	C	G	18	23842758	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00601480983052824	0.122
18	21422722	C	T	18	23842758	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00769527932137733	0.118
18	21424961	G	A	18	23844997	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.64172244318907E-5	0.0
18	21424961	G	C	18	23844997	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45288626127091E-4	0.0
18	21424961	G	T	18	23844997	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.27941031804426E-5	0.008
18	21424962	A	C	18	23844998	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71869413685155E-5	0.0
18	21424962	A	G	18	23844998	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.79492053851046E-5	0.0
18	21424962	A	T	18	23844998	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.12925096557398E-5	0.03
18	21424963	T	A	18	23844999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0294080684331259	0.226
18	21424963	T	C	18	23844999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.67705010339586E-4	0.078
18	21424963	T	G	18	23844999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999969981066648	0.976
18	21424964	T	A	18	23845000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0118220870369154	0.212
18	21424964	T	C	18	23845000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.68786132676009E-4	0.042
18	21424964	T	G	18	23845000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.019660413167495	0.196
18	21424965	T	A	18	23845001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00374760099159833	0.156
18	21424965	T	C	18	23845001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.37830817498712E-5	0.01
18	21424965	T	G	18	23845001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.1601815362308E-4	0.1
18	21424966	C	A	18	23845002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00158086706998216	0.076
18	21424966	C	G	18	23845002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00103184214588723	0.08
18	21424966	C	T	18	23845002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.30744269450049E-5	0.018
18	21424967	T	A	18	23845003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.347697850231411	0.444
18	21424967	T	C	18	23845003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.51325506416235E-5	0.076
18	21424967	T	G	18	23845003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.858080669087144	0.586
18	21424968	T	A	18	23845004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.524704820710734	0.39
18	21424968	T	C	18	23845004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.40397393485674E-4	0.058
18	21424968	T	G	18	23845004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.621502097129704	0.348
18	21424969	T	A	18	23845005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.63411635066769E-5	0.002
18	21424969	T	C	18	23845005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.15779017499827E-4	0.074
18	21424969	T	G	18	23845005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.86924123891578E-4	0.086
18	21424970	C	A	18	23845006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.659845655139805	0.544
18	21424970	C	G	18	23845006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998428485414003	0.83
18	21424970	C	T	18	23845006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.03062796557578E-4	0.018
18	21424971	A	C	18	23845007	y	y	splicing	LAMA3(NM_001127717:exon30:c.3604-2A>C;NM_198129:exon30:c.3604-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3604-2A>C;ENST00000399516:exon30:c.3604-2A>C)	.	.	0.999946188727699	0.93
18	21424971	A	G	18	23845007	y	y	splicing	LAMA3(NM_001127717:exon30:c.3604-2A>G;NM_198129:exon30:c.3604-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3604-2A>G;ENST00000399516:exon30:c.3604-2A>G)	.	.	0.999946188727699	0.936
18	21424971	A	T	18	23845007	y	y	splicing	LAMA3(NM_001127717:exon30:c.3604-2A>T;NM_198129:exon30:c.3604-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3604-2A>T;ENST00000399516:exon30:c.3604-2A>T)	.	.	0.99994568797423	0.934
18	21424972	G	A	18	23845008	y	y	splicing	LAMA3(NM_001127717:exon30:c.3604-1G>A;NM_198129:exon30:c.3604-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3604-1G>A;ENST00000399516:exon30:c.3604-1G>A)	.	.	0.999949496871441	0.926
18	21424972	G	C	18	23845008	y	y	splicing	LAMA3(NM_001127717:exon30:c.3604-1G>C;NM_198129:exon30:c.3604-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3604-1G>C;ENST00000399516:exon30:c.3604-1G>C)	.	.	0.999949496871441	0.93
18	21424972	G	T	18	23845008	y	y	splicing	LAMA3(NM_001127717:exon30:c.3604-1G>T;NM_198129:exon30:c.3604-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3604-1G>T;ENST00000399516:exon30:c.3604-1G>T)	.	.	0.999949496871441	0.93
18	21424973	G	A	18	23845009	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.G3604A:p.V1202I;LAMA3:NM_001127717:exon30:c.G3604A:p.V1202I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.G3604A:p.V1202I;ENSG00000053747:ENST00000313654:exon30:c.G3604A:p.V1202I;	0.382843301659006	0.354
18	21424973	G	C	18	23845009	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.G3604C:p.V1202L;LAMA3:NM_001127717:exon30:c.G3604C:p.V1202L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.G3604C:p.V1202L;ENSG00000053747:ENST00000313654:exon30:c.G3604C:p.V1202L;	0.737533463156831	0.734
18	21424973	G	T	18	23845009	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.G3604T:p.V1202F;LAMA3:NM_001127717:exon30:c.G3604T:p.V1202F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.G3604T:p.V1202F;ENSG00000053747:ENST00000313654:exon30:c.G3604T:p.V1202F;	0.83820814361434	0.76
18	21424974	T	A	18	23845010	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.T3605A:p.V1202D;LAMA3:NM_001127717:exon30:c.T3605A:p.V1202D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.T3605A:p.V1202D;ENSG00000053747:ENST00000313654:exon30:c.T3605A:p.V1202D;	0.00250718610492658	0.112
18	21424974	T	C	18	23845010	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.T3605C:p.V1202A;LAMA3:NM_001127717:exon30:c.T3605C:p.V1202A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.T3605C:p.V1202A;ENSG00000053747:ENST00000313654:exon30:c.T3605C:p.V1202A;	0.0428545457375571	0.196
18	21424974	T	G	18	23845010	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.T3605G:p.V1202G;LAMA3:NM_001127717:exon30:c.T3605G:p.V1202G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.T3605G:p.V1202G;ENSG00000053747:ENST00000313654:exon30:c.T3605G:p.V1202G;	0.0301135812634591	0.118
18	21425086	T	A	18	23845122	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon30:c.T3717A:p.L1239L;LAMA3:NM_001127717:exon30:c.T3717A:p.L1239L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.T3717A:p.L1239L;ENSG00000053747:ENST00000313654:exon30:c.T3717A:p.L1239L;	1.12789086841245E-4	0.016
18	21425086	T	C	18	23845122	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon30:c.T3717C:p.L1239L;LAMA3:NM_001127717:exon30:c.T3717C:p.L1239L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.T3717C:p.L1239L;ENSG00000053747:ENST00000313654:exon30:c.T3717C:p.L1239L;	2.85820068804976E-4	0.0
18	21425086	T	G	18	23845122	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon30:c.T3717G:p.L1239L;LAMA3:NM_001127717:exon30:c.T3717G:p.L1239L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.T3717G:p.L1239L;ENSG00000053747:ENST00000313654:exon30:c.T3717G:p.L1239L;	8.26267769975952E-4	0.242
18	21425087	G	A	18	23845123	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.G3718A:p.D1240N;LAMA3:NM_001127717:exon30:c.G3718A:p.D1240N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.G3718A:p.D1240N;ENSG00000053747:ENST00000313654:exon30:c.G3718A:p.D1240N;	0.460126843668857	0.342
18	21425087	G	C	18	23845123	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.G3718C:p.D1240H;LAMA3:NM_001127717:exon30:c.G3718C:p.D1240H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.G3718C:p.D1240H;ENSG00000053747:ENST00000313654:exon30:c.G3718C:p.D1240H;	0.988999091865354	0.818
18	21425087	G	T	18	23845123	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.G3718T:p.D1240Y;LAMA3:NM_001127717:exon30:c.G3718T:p.D1240Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.G3718T:p.D1240Y;ENSG00000053747:ENST00000313654:exon30:c.G3718T:p.D1240Y;	0.988907704586962	0.776
18	21425088	A	C	18	23845124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.A3719C:p.D1240A;LAMA3:NM_001127717:exon30:c.A3719C:p.D1240A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.A3719C:p.D1240A;ENSG00000053747:ENST00000313654:exon30:c.A3719C:p.D1240A;	0.668123057807621	0.71
18	21425088	A	G	18	23845124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.A3719G:p.D1240G;LAMA3:NM_001127717:exon30:c.A3719G:p.D1240G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.A3719G:p.D1240G;ENSG00000053747:ENST00000313654:exon30:c.A3719G:p.D1240G;	0.570240799103734	0.29
18	21425088	A	T	18	23845124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon30:c.A3719T:p.D1240V;LAMA3:NM_001127717:exon30:c.A3719T:p.D1240V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon30:c.A3719T:p.D1240V;ENSG00000053747:ENST00000313654:exon30:c.A3719T:p.D1240V;	0.809014907481796	0.506
18	21425089	G	A	18	23845125	y	y	splicing	LAMA3(NM_001127717:exon30:c.3719+1G>A;NM_198129:exon30:c.3719+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3719+1G>A;ENST00000399516:exon30:c.3719+1G>A)	.	.	0.999989072007339	0.95
18	21425089	G	C	18	23845125	y	y	splicing	LAMA3(NM_001127717:exon30:c.3719+1G>C;NM_198129:exon30:c.3719+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3719+1G>C;ENST00000399516:exon30:c.3719+1G>C)	.	.	0.999989072007339	0.95
18	21425089	G	T	18	23845125	y	y	splicing	LAMA3(NM_001127717:exon30:c.3719+1G>T;NM_198129:exon30:c.3719+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3719+1G>T;ENST00000399516:exon30:c.3719+1G>T)	.	.	0.999989072007339	0.95
18	21425090	T	A	18	23845126	y	y	splicing	LAMA3(NM_001127717:exon30:c.3719+2T>A;NM_198129:exon30:c.3719+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3719+2T>A;ENST00000399516:exon30:c.3719+2T>A)	.	.	0.999988247793601	0.946
18	21425090	T	C	18	23845126	y	y	splicing	LAMA3(NM_001127717:exon30:c.3719+2T>C;NM_198129:exon30:c.3719+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3719+2T>C;ENST00000399516:exon30:c.3719+2T>C)	.	.	0.999983530538551	0.954
18	21425090	T	G	18	23845126	y	y	splicing	LAMA3(NM_001127717:exon30:c.3719+2T>G;NM_198129:exon30:c.3719+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon30:c.3719+2T>G;ENST00000399516:exon30:c.3719+2T>G)	.	.	0.999988247793601	0.946
18	21425091	G	A	18	23845127	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.19147686936141E-5	0.004
18	21425091	G	C	18	23845127	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.967380607052868	0.546
18	21425091	G	T	18	23845127	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.927976104666604	0.446
18	21425092	A	C	18	23845128	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999832101639429	0.872
18	21425092	A	G	18	23845128	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999799181421497	0.862
18	21425092	A	T	18	23845128	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999805949092521	0.918
18	21425093	G	A	18	23845129	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999954511865598	1.0
18	21425093	G	C	18	23845129	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999969446742623	0.998
18	21425093	G	T	18	23845129	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999957411809093	0.988
18	21425094	T	A	18	23845130	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999303523003821	0.77
18	21425094	T	C	18	23845130	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992207397359884	0.856
18	21425094	T	G	18	23845130	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991998164620742	0.808
18	21425095	A	C	18	23845131	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.66257174910388E-4	0.01
18	21425095	A	G	18	23845131	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.04028920088272E-4	0.15
18	21425095	A	T	18	23845131	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.23587308250813E-4	0.156
18	21425096	T	A	18	23845132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.27790823993385E-4	0.106
18	21425096	T	C	18	23845132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.59520173469488E-4	0.076
18	21425096	T	G	18	23845132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.29158205607427E-4	0.08
18	21426249	C	A	18	23846285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.14001469017182E-5	0.004
18	21426249	C	G	18	23846285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.92453659253066E-5	0.012
18	21426249	C	T	18	23846285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.26848964498332E-5	0.0
18	21426250	T	A	18	23846286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998895349523088	0.968
18	21426250	T	C	18	23846286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20543630353554E-4	0.014
18	21426250	T	G	18	23846286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.55345077446215E-4	0.08
18	21426251	G	A	18	23846287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.78907057293414E-4	0.012
18	21426251	G	C	18	23846287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.04978122309634E-4	0.002
18	21426251	G	T	18	23846287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.67281928924361E-4	0.0
18	21426252	T	A	18	23846288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0188243785193517	0.186
18	21426252	T	C	18	23846288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00462451872548663	0.142
18	21426252	T	G	18	23846288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0182071502372516	0.166
18	21426253	C	A	18	23846289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0183686411891809	0.154
18	21426253	C	G	18	23846289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00592482639196541	0.088
18	21426253	C	T	18	23846289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.61768652060952E-5	0.018
18	21426254	T	A	18	23846290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.233507780809412	0.194
18	21426254	T	C	18	23846290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.42061361902109E-5	0.0
18	21426254	T	G	18	23846290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00765727276581807	0.094
18	21426255	C	A	18	23846291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0030835045487754	0.152
18	21426255	C	G	18	23846291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00255490920484952	0.156
18	21426255	C	T	18	23846291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.88527028526587E-5	0.018
18	21426256	C	A	18	23846292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00158268151934449	0.038
18	21426256	C	G	18	23846292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00680692084098224	0.11
18	21426256	C	T	18	23846292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.99838116176726E-6	0.0
18	21426257	A	C	18	23846293	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.64949883156941E-4	0.002
18	21426257	A	G	18	23846293	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.75107457518044E-4	0.06
18	21426257	A	T	18	23846293	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.79985041510483E-4	0.034
18	21426258	C	A	18	23846294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.989054997152879	0.862
18	21426258	C	G	18	23846294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99956471706938	0.982
18	21426258	C	T	18	23846294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0203903457032154	0.136
18	21426259	A	C	18	23846295	y	y	splicing	LAMA3(NM_001127717:exon31:c.3720-2A>C;NM_198129:exon31:c.3720-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3720-2A>C;ENST00000399516:exon31:c.3720-2A>C)	.	.	0.999988247793601	0.93
18	21426259	A	G	18	23846295	y	y	splicing	LAMA3(NM_001127717:exon31:c.3720-2A>G;NM_198129:exon31:c.3720-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3720-2A>G;ENST00000399516:exon31:c.3720-2A>G)	.	.	0.999988247793601	0.93
18	21426259	A	T	18	23846295	y	y	splicing	LAMA3(NM_001127717:exon31:c.3720-2A>T;NM_198129:exon31:c.3720-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3720-2A>T;ENST00000399516:exon31:c.3720-2A>T)	.	.	0.999988247793601	0.93
18	21426260	G	A	18	23846296	y	y	splicing	LAMA3(NM_001127717:exon31:c.3720-1G>A;NM_198129:exon31:c.3720-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3720-1G>A;ENST00000399516:exon31:c.3720-1G>A)	.	.	0.999990361384395	0.938
18	21426260	G	C	18	23846296	y	y	splicing	LAMA3(NM_001127717:exon31:c.3720-1G>C;NM_198129:exon31:c.3720-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3720-1G>C;ENST00000399516:exon31:c.3720-1G>C)	.	.	0.999990361384395	0.938
18	21426260	G	T	18	23846296	y	y	splicing	LAMA3(NM_001127717:exon31:c.3720-1G>T;NM_198129:exon31:c.3720-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3720-1G>T;ENST00000399516:exon31:c.3720-1G>T)	.	.	0.999990361384395	0.938
18	21426261	C	A	18	23846297	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.C3720A:p.D1240E;LAMA3:NM_001127717:exon31:c.C3720A:p.D1240E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3720A:p.D1240E;ENSG00000053747:ENST00000313654:exon31:c.C3720A:p.D1240E;	1.50855866637809E-4	0.18
18	21426261	C	G	18	23846297	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.C3720G:p.D1240E;LAMA3:NM_001127717:exon31:c.C3720G:p.D1240E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3720G:p.D1240E;ENSG00000053747:ENST00000313654:exon31:c.C3720G:p.D1240E;	2.80433451306781E-4	0.218
18	21426261	C	T	18	23846297	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon31:c.C3720T:p.D1240D;LAMA3:NM_001127717:exon31:c.C3720T:p.D1240D;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3720T:p.D1240D;ENSG00000053747:ENST00000313654:exon31:c.C3720T:p.D1240D;	0.00133302891917613	0.072
18	21426262	C	A	18	23846298	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.C3721A:p.P1241T;LAMA3:NM_001127717:exon31:c.C3721A:p.P1241T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3721A:p.P1241T;ENSG00000053747:ENST00000313654:exon31:c.C3721A:p.P1241T;	0.992044320798546	0.866
18	21426262	C	G	18	23846298	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.C3721G:p.P1241A;LAMA3:NM_001127717:exon31:c.C3721G:p.P1241A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3721G:p.P1241A;ENSG00000053747:ENST00000313654:exon31:c.C3721G:p.P1241A;	0.984302715926447	0.826
18	21426262	C	T	18	23846298	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.C3721T:p.P1241S;LAMA3:NM_001127717:exon31:c.C3721T:p.P1241S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3721T:p.P1241S;ENSG00000053747:ENST00000313654:exon31:c.C3721T:p.P1241S;	0.98100625610354	0.868
18	21426470	A	C	18	23846506	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.A3929C:p.K1310T;LAMA3:NM_001127717:exon31:c.A3929C:p.K1310T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.A3929C:p.K1310T;ENSG00000053747:ENST00000313654:exon31:c.A3929C:p.K1310T;	9.74275704800579E-5	0.04
18	21426470	A	G	18	23846506	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.A3929G:p.K1310R;LAMA3:NM_001127717:exon31:c.A3929G:p.K1310R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.A3929G:p.K1310R;ENSG00000053747:ENST00000313654:exon31:c.A3929G:p.K1310R;	2.18509315582164E-5	0.0
18	21426470	A	T	18	23846506	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.A3929T:p.K1310M;LAMA3:NM_001127717:exon31:c.A3929T:p.K1310M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.A3929T:p.K1310M;ENSG00000053747:ENST00000313654:exon31:c.A3929T:p.K1310M;	0.00305913019901431	0.192
18	21426471	G	A	18	23846507	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon31:c.G3930A:p.K1310K;LAMA3:NM_001127717:exon31:c.G3930A:p.K1310K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.G3930A:p.K1310K;ENSG00000053747:ENST00000313654:exon31:c.G3930A:p.K1310K;	6.9427613627767E-5	0.012
18	21426471	G	C	18	23846507	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.G3930C:p.K1310N;LAMA3:NM_001127717:exon31:c.G3930C:p.K1310N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.G3930C:p.K1310N;ENSG00000053747:ENST00000313654:exon31:c.G3930C:p.K1310N;	8.22709289715061E-5	0.046
18	21426471	G	T	18	23846507	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.G3930T:p.K1310N;LAMA3:NM_001127717:exon31:c.G3930T:p.K1310N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.G3930T:p.K1310N;ENSG00000053747:ENST00000313654:exon31:c.G3930T:p.K1310N;	1.05939241308412E-4	0.022
18	21426472	C	A	18	23846508	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.C3931A:p.P1311T;LAMA3:NM_001127717:exon31:c.C3931A:p.P1311T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3931A:p.P1311T;ENSG00000053747:ENST00000313654:exon31:c.C3931A:p.P1311T;	4.20956455698827E-4	0.014
18	21426472	C	G	18	23846508	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.C3931G:p.P1311A;LAMA3:NM_001127717:exon31:c.C3931G:p.P1311A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3931G:p.P1311A;ENSG00000053747:ENST00000313654:exon31:c.C3931G:p.P1311A;	6.89152884286537E-5	0.164
18	21426472	C	T	18	23846508	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon31:c.C3931T:p.P1311S;LAMA3:NM_001127717:exon31:c.C3931T:p.P1311S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon31:c.C3931T:p.P1311S;ENSG00000053747:ENST00000313654:exon31:c.C3931T:p.P1311S;	2.3781353864165E-4	0.042
18	21426473	G	A	18	23846509	y	y	splicing	LAMA3(NM_001127717:exon31:c.3931+1G>A;NM_198129:exon31:c.3931+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3931+1G>A;ENST00000399516:exon31:c.3931+1G>A)	.	.	0.999990361384395	0.938
18	21426473	G	C	18	23846509	y	y	splicing	LAMA3(NM_001127717:exon31:c.3931+1G>C;NM_198129:exon31:c.3931+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3931+1G>C;ENST00000399516:exon31:c.3931+1G>C)	.	.	0.999982737877662	0.938
18	21426473	G	T	18	23846509	y	y	splicing	LAMA3(NM_001127717:exon31:c.3931+1G>T;NM_198129:exon31:c.3931+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3931+1G>T;ENST00000399516:exon31:c.3931+1G>T)	.	.	0.999982737877662	0.938
18	21426474	T	A	18	23846510	y	y	splicing	LAMA3(NM_001127717:exon31:c.3931+2T>A;NM_198129:exon31:c.3931+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3931+2T>A;ENST00000399516:exon31:c.3931+2T>A)	.	.	0.999978952611685	0.932
18	21426474	T	C	18	23846510	y	y	splicing	LAMA3(NM_001127717:exon31:c.3931+2T>C;NM_198129:exon31:c.3931+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3931+2T>C;ENST00000399516:exon31:c.3931+2T>C)	.	.	0.985124993549982	0.7
18	21426474	T	G	18	23846510	y	y	splicing	LAMA3(NM_001127717:exon31:c.3931+2T>G;NM_198129:exon31:c.3931+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon31:c.3931+2T>G;ENST00000399516:exon31:c.3931+2T>G)	.	.	0.99994568797423	0.93
18	21426475	A	C	18	23846511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998295961634748	0.916
18	21426475	A	G	18	23846511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0143817820401821	0.268
18	21426475	A	T	18	23846511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999346400315112	0.832
18	21426476	A	C	18	23846512	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.873653126760293	0.536
18	21426476	A	G	18	23846512	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.976870625792415	0.822
18	21426476	A	T	18	23846512	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.977930564221561	0.76
18	21426477	G	A	18	23846513	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999977637144458	0.984
18	21426477	G	C	18	23846513	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999993861073511	0.954
18	21426477	G	T	18	23846513	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999981336411046	0.952
18	21426478	T	A	18	23846514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.795780755874246	0.55
18	21426478	T	C	18	23846514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.786125389907551	0.7
18	21426478	T	G	18	23846514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.869902192237869	0.64
18	21426479	G	A	18	23846515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.64328173172739E-4	0.018
18	21426479	G	C	18	23846515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.32359030409161E-4	0.01
18	21426479	G	T	18	23846515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.10534775162627E-4	0.036
18	21426480	C	A	18	23846516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.16098261087877E-4	0.002
18	21426480	C	G	18	23846516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.3877754402278E-5	0.002
18	21426480	C	T	18	23846516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.16098261087877E-4	0.002
18	21427416	T	A	18	23847452	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995669178651751	0.862
18	21427416	T	C	18	23847452	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00817243689413688	0.208
18	21427416	T	G	18	23847452	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999921727044484	0.958
18	21427417	C	A	18	23847453	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0149367686265185	0.066
18	21427417	C	G	18	23847453	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00227028060777191	0.076
18	21427417	C	T	18	23847453	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.78922417777552E-5	0.014
18	21427418	C	A	18	23847454	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00107794035889968	0.032
18	21427418	C	G	18	23847454	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.04390305330505E-4	0.038
18	21427418	C	T	18	23847454	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.56687022131529E-5	0.0
18	21427419	C	A	18	23847455	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0153912637813166	0.142
18	21427419	C	G	18	23847455	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00296361565276922	0.082
18	21427419	C	T	18	23847455	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.62996533240069E-5	0.036
18	21427420	C	A	18	23847456	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00245142603905185	0.124
18	21427420	C	G	18	23847456	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00141570602262393	0.146
18	21427420	C	T	18	23847456	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.2142402027086E-5	0.006
18	21427421	T	A	18	23847457	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999941618795403	0.992
18	21427421	T	C	18	23847457	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.72908554673639E-5	0.04
18	21427421	T	G	18	23847457	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.034732265545248	0.188
18	21427422	G	A	18	23847458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997899425754506	0.994
18	21427422	G	C	18	23847458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.13378872336751E-5	0.012
18	21427422	G	T	18	23847458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.13378872336751E-5	0.02
18	21427423	G	A	18	23847459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09046567841954E-4	0.04
18	21427423	G	C	18	23847459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.06481237244302E-5	0.0
18	21427423	G	T	18	23847459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.00684534904205E-5	0.002
18	21427424	C	A	18	23847460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.8840974614233E-4	0.034
18	21427424	C	G	18	23847460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.60032557922168E-5	0.032
18	21427424	C	T	18	23847460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.54162509966427E-4	0.018
18	21427425	C	A	18	23847461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.968375931361143	0.8
18	21427425	C	G	18	23847461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99935116309702	0.746
18	21427425	C	T	18	23847461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00107132544784715	0.102
18	21427426	A	C	18	23847462	y	y	splicing	LAMA3(NM_001127717:exon32:c.3932-2A>C;NM_198129:exon32:c.3932-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.3932-2A>C;ENST00000399516:exon32:c.3932-2A>C)	.	.	0.999971864448174	0.91
18	21427426	A	G	18	23847462	y	y	splicing	LAMA3(NM_001127717:exon32:c.3932-2A>G;NM_198129:exon32:c.3932-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.3932-2A>G;ENST00000399516:exon32:c.3932-2A>G)	.	.	0.999971864448174	0.91
18	21427426	A	T	18	23847462	y	y	splicing	LAMA3(NM_001127717:exon32:c.3932-2A>T;NM_198129:exon32:c.3932-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.3932-2A>T;ENST00000399516:exon32:c.3932-2A>T)	.	.	0.999971864448174	0.894
18	21427427	G	A	18	23847463	y	y	splicing	LAMA3(NM_001127717:exon32:c.3932-1G>A;NM_198129:exon32:c.3932-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.3932-1G>A;ENST00000399516:exon32:c.3932-1G>A)	.	.	0.999948737127494	0.874
18	21427427	G	C	18	23847463	y	y	splicing	LAMA3(NM_001127717:exon32:c.3932-1G>C;NM_198129:exon32:c.3932-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.3932-1G>C;ENST00000399516:exon32:c.3932-1G>C)	.	.	0.999948737127494	0.886
18	21427427	G	T	18	23847463	y	y	splicing	LAMA3(NM_001127717:exon32:c.3932-1G>T;NM_198129:exon32:c.3932-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.3932-1G>T;ENST00000399516:exon32:c.3932-1G>T)	.	.	0.999948737127494	0.886
18	21427428	C	A	18	23847464	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon32:c.C3932A:p.P1311Q;LAMA3:NM_001127717:exon32:c.C3932A:p.P1311Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.C3932A:p.P1311Q;ENSG00000053747:ENST00000313654:exon32:c.C3932A:p.P1311Q;	0.28210746327687	0.466
18	21427428	C	G	18	23847464	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon32:c.C3932G:p.P1311R;LAMA3:NM_001127717:exon32:c.C3932G:p.P1311R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.C3932G:p.P1311R;ENSG00000053747:ENST00000313654:exon32:c.C3932G:p.P1311R;	0.154222518613246	0.266
18	21427428	C	T	18	23847464	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon32:c.C3932T:p.P1311L;LAMA3:NM_001127717:exon32:c.C3932T:p.P1311L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.C3932T:p.P1311L;ENSG00000053747:ENST00000313654:exon32:c.C3932T:p.P1311L;	0.0321012022243582	0.282
18	21427429	G	A	18	23847465	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon32:c.G3933A:p.P1311P;LAMA3:NM_001127717:exon32:c.G3933A:p.P1311P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.G3933A:p.P1311P;ENSG00000053747:ENST00000313654:exon32:c.G3933A:p.P1311P;	3.56168844229545E-5	0.048
18	21427429	G	C	18	23847465	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon32:c.G3933C:p.P1311P;LAMA3:NM_001127717:exon32:c.G3933C:p.P1311P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.G3933C:p.P1311P;ENSG00000053747:ENST00000313654:exon32:c.G3933C:p.P1311P;	8.00865318733765E-5	0.136
18	21427429	G	T	18	23847465	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon32:c.G3933T:p.P1311P;LAMA3:NM_001127717:exon32:c.G3933T:p.P1311P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.G3933T:p.P1311P;ENSG00000053747:ENST00000313654:exon32:c.G3933T:p.P1311P;	8.28687746922007E-6	0.054
18	21427630	C	A	18	23847666	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon32:c.C4134A:p.C1378X;LAMA3:NM_001127717:exon32:c.C4134A:p.C1378X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon32:c.C4134A:p.C1378X;ENSG00000053747:ENST00000313654:exon32:c.C4134A:p.C1378X;	0.936477210362664	0.854
18	21427630	C	G	18	23847666	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon32:c.C4134G:p.C1378W;LAMA3:NM_001127717:exon32:c.C4134G:p.C1378W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.C4134G:p.C1378W;ENSG00000053747:ENST00000313654:exon32:c.C4134G:p.C1378W;	0.929232593132685	0.654
18	21427630	C	T	18	23847666	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon32:c.C4134T:p.C1378C;LAMA3:NM_001127717:exon32:c.C4134T:p.C1378C;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.C4134T:p.C1378C;ENSG00000053747:ENST00000313654:exon32:c.C4134T:p.C1378C;	0.996977763882134	0.816
18	21427631	A	C	18	23847667	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon32:c.A4135C:p.R1379R;LAMA3:NM_001127717:exon32:c.A4135C:p.R1379R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.A4135C:p.R1379R;ENSG00000053747:ENST00000313654:exon32:c.A4135C:p.R1379R;	0.996136481367759	0.952
18	21427631	A	G	18	23847667	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon32:c.A4135G:p.R1379G;LAMA3:NM_001127717:exon32:c.A4135G:p.R1379G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.A4135G:p.R1379G;ENSG00000053747:ENST00000313654:exon32:c.A4135G:p.R1379G;	0.999734510985232	0.978
18	21427631	A	T	18	23847667	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon32:c.A4135T:p.R1379X;LAMA3:NM_001127717:exon32:c.A4135T:p.R1379X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon32:c.A4135T:p.R1379X;ENSG00000053747:ENST00000313654:exon32:c.A4135T:p.R1379X;	0.999571179837611	0.962
18	21427632	G	A	18	23847668	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon32:c.G4136A:p.R1379K;LAMA3:NM_001127717:exon32:c.G4136A:p.R1379K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.G4136A:p.R1379K;ENSG00000053747:ENST00000313654:exon32:c.G4136A:p.R1379K;	0.99967778661575	0.962
18	21427632	G	C	18	23847668	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon32:c.G4136C:p.R1379T;LAMA3:NM_001127717:exon32:c.G4136C:p.R1379T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.G4136C:p.R1379T;ENSG00000053747:ENST00000313654:exon32:c.G4136C:p.R1379T;	0.999995685921336	1.0
18	21427632	G	T	18	23847668	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon32:c.G4136T:p.R1379I;LAMA3:NM_001127717:exon32:c.G4136T:p.R1379I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon32:c.G4136T:p.R1379I;ENSG00000053747:ENST00000313654:exon32:c.G4136T:p.R1379I;	0.999923197689723	0.998
18	21427633	G	A	18	23847669	y	y	splicing	LAMA3(NM_001127717:exon32:c.4136+1G>A;NM_198129:exon32:c.4136+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.4136+1G>A;ENST00000399516:exon32:c.4136+1G>A)	.	.	0.999989072007339	0.934
18	21427633	G	C	18	23847669	y	y	splicing	LAMA3(NM_001127717:exon32:c.4136+1G>C;NM_198129:exon32:c.4136+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.4136+1G>C;ENST00000399516:exon32:c.4136+1G>C)	.	.	0.999989072007339	0.934
18	21427633	G	T	18	23847669	y	y	splicing	LAMA3(NM_001127717:exon32:c.4136+1G>T;NM_198129:exon32:c.4136+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.4136+1G>T;ENST00000399516:exon32:c.4136+1G>T)	.	.	0.999989072007339	0.934
18	21427634	T	A	18	23847670	y	y	splicing	LAMA3(NM_001127717:exon32:c.4136+2T>A;NM_198129:exon32:c.4136+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.4136+2T>A;ENST00000399516:exon32:c.4136+2T>A)	.	.	0.999988247793601	0.93
18	21427634	T	C	18	23847670	y	y	splicing	LAMA3(NM_001127717:exon32:c.4136+2T>C;NM_198129:exon32:c.4136+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.4136+2T>C;ENST00000399516:exon32:c.4136+2T>C)	.	.	0.99991520749976	0.868
18	21427634	T	G	18	23847670	y	y	splicing	LAMA3(NM_001127717:exon32:c.4136+2T>G;NM_198129:exon32:c.4136+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon32:c.4136+2T>G;ENST00000399516:exon32:c.4136+2T>G)	.	.	0.999988247793601	0.93
18	21427635	G	A	18	23847671	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.02542423055047E-4	0.0
18	21427635	G	C	18	23847671	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.801348927031255	0.682
18	21427635	G	T	18	23847671	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.977117193990014	0.642
18	21427636	A	C	18	23847672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.979945387002036	0.792
18	21427636	A	G	18	23847672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994255422980459	0.748
18	21427636	A	T	18	23847672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9974364063358	0.846
18	21427637	G	A	18	23847673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999230815798836	0.944
18	21427637	G	C	18	23847673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999110871312311	0.838
18	21427637	G	T	18	23847673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998535547931149	0.856
18	21427638	C	A	18	23847674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.76188218222095E-4	0.036
18	21427638	C	G	18	23847674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.1466140030787E-4	0.046
18	21427638	C	T	18	23847674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.23503492604438E-4	0.016
18	21427639	T	A	18	23847675	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.19365061767189E-5	0.0
18	21427639	T	C	18	23847675	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.19365061767189E-5	0.002
18	21427639	T	G	18	23847675	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.1951649367366E-5	0.0
18	21427640	G	A	18	23847676	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.214233116931E-4	0.004
18	21427640	G	C	18	23847676	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.3249632925485E-4	0.004
18	21427640	G	T	18	23847676	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.80650664972837E-4	0.002
18	21437796	C	A	18	23857832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.00276447502044E-4	0.03
18	21437796	C	G	18	23857832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999245280589936	0.924
18	21437796	C	T	18	23857832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.98333809759518E-5	0.0
18	21437797	T	A	18	23857833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.167063883148428	0.462
18	21437797	T	C	18	23857833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.73928646503127E-4	0.048
18	21437797	T	G	18	23857833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0759194192768439	0.452
18	21437798	T	A	18	23857834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0174754634678411	0.176
18	21437798	T	C	18	23857834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.07676069511755E-5	0.0
18	21437798	T	G	18	23857834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0100190771795305	0.156
18	21437799	T	A	18	23857835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999940929281157	0.966
18	21437799	T	C	18	23857835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.41006976542388E-5	0.014
18	21437799	T	G	18	23857835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.022011273119556	0.22
18	21437800	G	A	18	23857836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.6520238818339E-4	0.034
18	21437800	G	C	18	23857836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.28801148860412E-5	0.004
18	21437800	G	T	18	23857836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.05059111188853E-5	0.002
18	21437801	T	A	18	23857837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991273109204251	0.966
18	21437801	T	C	18	23857837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.93741741267479E-5	0.0
18	21437801	T	G	18	23857837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0133953694122145	0.05
18	21437802	G	A	18	23857838	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.411646395698E-5	0.004
18	21437802	G	C	18	23857838	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.11174157935725E-5	0.0
18	21437802	G	T	18	23857838	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.88243520396569E-5	0.0
18	21437803	T	A	18	23857839	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0454491406180273	0.352
18	21437803	T	C	18	23857839	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.27072899401648E-4	0.002
18	21437803	T	G	18	23857839	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.067727568314701	0.352
18	21437804	A	C	18	23857840	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.60938777387594E-5	0.0
18	21437804	A	G	18	23857840	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.0624365051724E-5	0.004
18	21437804	A	T	18	23857840	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.01929318042709E-5	0.002
18	21437805	C	A	18	23857841	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.12604181908321	0.23
18	21437805	C	G	18	23857841	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993072995842635	0.76
18	21437805	C	T	18	23857841	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17307567524024E-4	0.01
18	21437806	A	C	18	23857842	y	y	splicing	LAMA3(NM_001127717:exon33:c.4137-2A>C;NM_198129:exon33:c.4137-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4137-2A>C;ENST00000399516:exon33:c.4137-2A>C)	.	.	0.99994568797423	0.926
18	21437806	A	G	18	23857842	y	y	splicing	LAMA3(NM_001127717:exon33:c.4137-2A>G;NM_198129:exon33:c.4137-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4137-2A>G;ENST00000399516:exon33:c.4137-2A>G)	.	.	0.99994568797423	0.926
18	21437806	A	T	18	23857842	y	y	splicing	LAMA3(NM_001127717:exon33:c.4137-2A>T;NM_198129:exon33:c.4137-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4137-2A>T;ENST00000399516:exon33:c.4137-2A>T)	.	.	0.999978952611685	0.928
18	21437807	G	A	18	23857843	y	y	splicing	LAMA3(NM_001127717:exon33:c.4137-1G>A;NM_198129:exon33:c.4137-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4137-1G>A;ENST00000399516:exon33:c.4137-1G>A)	.	.	0.999989072007339	0.932
18	21437807	G	C	18	23857843	y	y	splicing	LAMA3(NM_001127717:exon33:c.4137-1G>C;NM_198129:exon33:c.4137-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4137-1G>C;ENST00000399516:exon33:c.4137-1G>C)	.	.	0.999989072007339	0.934
18	21437807	G	T	18	23857843	y	y	splicing	LAMA3(NM_001127717:exon33:c.4137-1G>T;NM_198129:exon33:c.4137-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4137-1G>T;ENST00000399516:exon33:c.4137-1G>T)	.	.	0.999989072007339	0.934
18	21437808	A	C	18	23857844	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.A4137C:p.R1379S;LAMA3:NM_001127717:exon33:c.A4137C:p.R1379S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.A4137C:p.R1379S;ENSG00000053747:ENST00000313654:exon33:c.A4137C:p.R1379S;	2.19400909233805E-4	0.016
18	21437808	A	G	18	23857844	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon33:c.A4137G:p.R1379R;LAMA3:NM_001127717:exon33:c.A4137G:p.R1379R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.A4137G:p.R1379R;ENSG00000053747:ENST00000313654:exon33:c.A4137G:p.R1379R;	1.12325712797772E-5	0.002
18	21437808	A	T	18	23857844	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.A4137T:p.R1379S;LAMA3:NM_001127717:exon33:c.A4137T:p.R1379S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.A4137T:p.R1379S;ENSG00000053747:ENST00000313654:exon33:c.A4137T:p.R1379S;	5.55446372197841E-4	0.044
18	21437809	T	A	18	23857845	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.T4138A:p.C1380S;LAMA3:NM_001127717:exon33:c.T4138A:p.C1380S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.T4138A:p.C1380S;ENSG00000053747:ENST00000313654:exon33:c.T4138A:p.C1380S;	0.286505980338362	0.486
18	21437809	T	C	18	23857845	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.T4138C:p.C1380R;LAMA3:NM_001127717:exon33:c.T4138C:p.C1380R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.T4138C:p.C1380R;ENSG00000053747:ENST00000313654:exon33:c.T4138C:p.C1380R;	0.221702663604472	0.426
18	21437809	T	G	18	23857845	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.T4138G:p.C1380G;LAMA3:NM_001127717:exon33:c.T4138G:p.C1380G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.T4138G:p.C1380G;ENSG00000053747:ENST00000313654:exon33:c.T4138G:p.C1380G;	0.300415559537895	0.396
18	21437950	A	C	18	23857986	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.A4279C:p.K1427Q;LAMA3:NM_001127717:exon33:c.A4279C:p.K1427Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.A4279C:p.K1427Q;ENSG00000053747:ENST00000313654:exon33:c.A4279C:p.K1427Q;	0.643326409846523	0.594
18	21437950	A	G	18	23857986	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.A4279G:p.K1427E;LAMA3:NM_001127717:exon33:c.A4279G:p.K1427E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.A4279G:p.K1427E;ENSG00000053747:ENST00000313654:exon33:c.A4279G:p.K1427E;	0.130460018981271	0.296
18	21437950	A	T	18	23857986	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon33:c.A4279T:p.K1427X;LAMA3:NM_001127717:exon33:c.A4279T:p.K1427X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon33:c.A4279T:p.K1427X;ENSG00000053747:ENST00000313654:exon33:c.A4279T:p.K1427X;	0.920214757740982	0.616
18	21437951	A	C	18	23857987	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.A4280C:p.K1427T;LAMA3:NM_001127717:exon33:c.A4280C:p.K1427T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.A4280C:p.K1427T;ENSG00000053747:ENST00000313654:exon33:c.A4280C:p.K1427T;	0.975483227951984	0.848
18	21437951	A	G	18	23857987	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.A4280G:p.K1427R;LAMA3:NM_001127717:exon33:c.A4280G:p.K1427R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.A4280G:p.K1427R;ENSG00000053747:ENST00000313654:exon33:c.A4280G:p.K1427R;	0.981614108599007	0.898
18	21437951	A	T	18	23857987	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.A4280T:p.K1427M;LAMA3:NM_001127717:exon33:c.A4280T:p.K1427M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.A4280T:p.K1427M;ENSG00000053747:ENST00000313654:exon33:c.A4280T:p.K1427M;	0.973035909705411	0.566
18	21437952	G	A	18	23857988	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon33:c.G4281A:p.K1427K;LAMA3:NM_001127717:exon33:c.G4281A:p.K1427K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.G4281A:p.K1427K;ENSG00000053747:ENST00000313654:exon33:c.G4281A:p.K1427K;	0.998828208878655	0.97
18	21437952	G	C	18	23857988	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.G4281C:p.K1427N;LAMA3:NM_001127717:exon33:c.G4281C:p.K1427N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.G4281C:p.K1427N;ENSG00000053747:ENST00000313654:exon33:c.G4281C:p.K1427N;	0.999965614933446	0.966
18	21437952	G	T	18	23857988	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon33:c.G4281T:p.K1427N;LAMA3:NM_001127717:exon33:c.G4281T:p.K1427N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon33:c.G4281T:p.K1427N;ENSG00000053747:ENST00000313654:exon33:c.G4281T:p.K1427N;	0.999817200039031	0.954
18	21437953	G	A	18	23857989	y	y	splicing	LAMA3(NM_001127717:exon33:c.4281+1G>A;NM_198129:exon33:c.4281+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4281+1G>A;ENST00000399516:exon33:c.4281+1G>A)	.	.	0.999986675681007	0.926
18	21437953	G	C	18	23857989	y	y	splicing	LAMA3(NM_001127717:exon33:c.4281+1G>C;NM_198129:exon33:c.4281+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4281+1G>C;ENST00000399516:exon33:c.4281+1G>C)	.	.	0.999986675681007	0.926
18	21437953	G	T	18	23857989	y	y	splicing	LAMA3(NM_001127717:exon33:c.4281+1G>T;NM_198129:exon33:c.4281+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4281+1G>T;ENST00000399516:exon33:c.4281+1G>T)	.	.	0.999986675681007	0.926
18	21437954	T	A	18	23857990	y	y	splicing	LAMA3(NM_001127717:exon33:c.4281+2T>A;NM_198129:exon33:c.4281+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4281+2T>A;ENST00000399516:exon33:c.4281+2T>A)	.	.	0.999988247793601	0.928
18	21437954	T	C	18	23857990	y	y	splicing	LAMA3(NM_001127717:exon33:c.4281+2T>C;NM_198129:exon33:c.4281+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4281+2T>C;ENST00000399516:exon33:c.4281+2T>C)	.	.	0.99295178357233	0.608
18	21437954	T	G	18	23857990	y	y	splicing	LAMA3(NM_001127717:exon33:c.4281+2T>G;NM_198129:exon33:c.4281+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon33:c.4281+2T>G;ENST00000399516:exon33:c.4281+2T>G)	.	.	0.999988247793601	0.928
18	21437955	A	C	18	23857991	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.665739503311904	0.398
18	21437955	A	G	18	23857991	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.34964812947639E-4	0.046
18	21437955	A	T	18	23857991	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.258367239125139	0.316
18	21437956	A	C	18	23857992	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.812763595198261	0.626
18	21437956	A	G	18	23857992	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.896847834377022	0.532
18	21437956	A	T	18	23857992	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.875210477509743	0.628
18	21437957	G	A	18	23857993	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.964567433703087	0.546
18	21437957	G	C	18	23857993	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.760009032246056	0.45
18	21437957	G	T	18	23857993	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.921462980390328	0.454
18	21437958	A	C	18	23857994	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.28697467567028E-5	0.004
18	21437958	A	G	18	23857994	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.51330084327816E-5	0.0
18	21437958	A	T	18	23857994	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.36965619325028E-5	0.01
18	21437959	G	A	18	23857995	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.23986773567894E-5	0.0
18	21437959	G	C	18	23857995	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.23986773567894E-5	0.0
18	21437959	G	T	18	23857995	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.55123745771001E-5	0.0
18	21437960	A	C	18	23857996	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09105271056891E-5	0.0
18	21437960	A	G	18	23857996	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.49324761033339E-5	0.006
18	21437960	A	T	18	23857996	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.70337218186484E-5	0.0
18	21438641	T	A	18	23858677	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.245745604016607	0.502
18	21438641	T	C	18	23858677	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.70628419023818E-4	0.014
18	21438641	T	G	18	23858677	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.16102699527478	0.466
18	21438642	T	A	18	23858678	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999929713597142	0.966
18	21438642	T	C	18	23858678	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00182491191356379	0.166
18	21438642	T	G	18	23858678	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.900648683860368	0.648
18	21438643	G	A	18	23858679	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6952338511613E-4	0.014
18	21438643	G	C	18	23858679	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.12196627176991E-5	0.012
18	21438643	G	T	18	23858679	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.21894691923252E-5	0.008
18	21438644	C	A	18	23858680	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00248699323430404	0.118
18	21438644	C	G	18	23858680	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00319644257273422	0.146
18	21438644	C	T	18	23858680	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.7243270937255E-5	0.0
18	21438645	T	A	18	23858681	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00529475255928929	0.084
18	21438645	T	C	18	23858681	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.27193490772619E-5	0.002
18	21438645	T	G	18	23858681	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0051504743687148	0.14
18	21438646	T	A	18	23858682	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.137587901813711	0.214
18	21438646	T	C	18	23858682	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.94537133673571E-5	0.0
18	21438646	T	G	18	23858682	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.018101398629985	0.096
18	21438647	C	A	18	23858683	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0151460666093194	0.278
18	21438647	C	G	18	23858683	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0106321714110575	0.234
18	21438647	C	T	18	23858683	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.68789827050114E-4	0.022
18	21438648	A	C	18	23858684	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.9331395900335E-5	0.002
18	21438648	A	G	18	23858684	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.25908677515882E-4	0.018
18	21438648	A	T	18	23858684	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.83525668871304E-5	0.002
18	21438649	A	C	18	23858685	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.14478783811071E-4	0.006
18	21438649	A	G	18	23858685	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.987949717711382	0.792
18	21438649	A	T	18	23858685	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0015048829594779	0.034
18	21438650	T	A	18	23858686	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0029195489436461	0.172
18	21438650	T	C	18	23858686	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.12468100337719E-4	0.004
18	21438650	T	G	18	23858686	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.853592370448481	0.654
18	21438651	A	C	18	23858687	y	y	splicing	LAMA3(NM_001127717:exon34:c.4282-2A>C;NM_198129:exon34:c.4282-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4282-2A>C;ENST00000399516:exon34:c.4282-2A>C)	.	.	0.999988247793601	0.924
18	21438651	A	G	18	23858687	y	y	splicing	LAMA3(NM_001127717:exon34:c.4282-2A>G;NM_198129:exon34:c.4282-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4282-2A>G;ENST00000399516:exon34:c.4282-2A>G)	.	.	0.999988247793601	0.924
18	21438651	A	T	18	23858687	y	y	splicing	LAMA3(NM_001127717:exon34:c.4282-2A>T;NM_198129:exon34:c.4282-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4282-2A>T;ENST00000399516:exon34:c.4282-2A>T)	.	.	0.999988247793601	0.912
18	21438652	G	A	18	23858688	y	y	splicing	LAMA3(NM_001127717:exon34:c.4282-1G>A;NM_198129:exon34:c.4282-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4282-1G>A;ENST00000399516:exon34:c.4282-1G>A)	.	.	0.999986675681007	0.93
18	21438652	G	C	18	23858688	y	y	splicing	LAMA3(NM_001127717:exon34:c.4282-1G>C;NM_198129:exon34:c.4282-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4282-1G>C;ENST00000399516:exon34:c.4282-1G>C)	.	.	0.999986675681007	0.93
18	21438652	G	T	18	23858688	y	y	splicing	LAMA3(NM_001127717:exon34:c.4282-1G>T;NM_198129:exon34:c.4282-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4282-1G>T;ENST00000399516:exon34:c.4282-1G>T)	.	.	0.999986675681007	0.93
18	21438653	G	A	18	23858689	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.G4282A:p.E1428K;LAMA3:NM_001127717:exon34:c.G4282A:p.E1428K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.G4282A:p.E1428K;ENSG00000053747:ENST00000313654:exon34:c.G4282A:p.E1428K;	0.998703628909825	0.91
18	21438653	G	C	18	23858689	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.G4282C:p.E1428Q;LAMA3:NM_001127717:exon34:c.G4282C:p.E1428Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.G4282C:p.E1428Q;ENSG00000053747:ENST00000313654:exon34:c.G4282C:p.E1428Q;	0.999771840347058	0.986
18	21438653	G	T	18	23858689	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon34:c.G4282T:p.E1428X;LAMA3:NM_001127717:exon34:c.G4282T:p.E1428X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon34:c.G4282T:p.E1428X;ENSG00000053747:ENST00000313654:exon34:c.G4282T:p.E1428X;	0.999950704095524	0.99
18	21438654	A	C	18	23858690	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.A4283C:p.E1428A;LAMA3:NM_001127717:exon34:c.A4283C:p.E1428A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.A4283C:p.E1428A;ENSG00000053747:ENST00000313654:exon34:c.A4283C:p.E1428A;	0.0712496040344296	0.188
18	21438654	A	G	18	23858690	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.A4283G:p.E1428G;LAMA3:NM_001127717:exon34:c.A4283G:p.E1428G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.A4283G:p.E1428G;ENSG00000053747:ENST00000313654:exon34:c.A4283G:p.E1428G;	0.03016583542086	0.118
18	21438654	A	T	18	23858690	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.A4283T:p.E1428V;LAMA3:NM_001127717:exon34:c.A4283T:p.E1428V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.A4283T:p.E1428V;ENSG00000053747:ENST00000313654:exon34:c.A4283T:p.E1428V;	0.0351763384990512	0.158
18	21438791	A	C	18	23858827	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.A4420C:p.K1474Q;LAMA3:NM_001127717:exon34:c.A4420C:p.K1474Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.A4420C:p.K1474Q;ENSG00000053747:ENST00000313654:exon34:c.A4420C:p.K1474Q;	0.00181100002625013	0.04
18	21438791	A	G	18	23858827	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.A4420G:p.K1474E;LAMA3:NM_001127717:exon34:c.A4420G:p.K1474E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.A4420G:p.K1474E;ENSG00000053747:ENST00000313654:exon34:c.A4420G:p.K1474E;	2.26930031861075E-4	0.002
18	21438791	A	T	18	23858827	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon34:c.A4420T:p.K1474X;LAMA3:NM_001127717:exon34:c.A4420T:p.K1474X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon34:c.A4420T:p.K1474X;ENSG00000053747:ENST00000313654:exon34:c.A4420T:p.K1474X;	0.398940923202282	0.558
18	21438792	A	C	18	23858828	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.A4421C:p.K1474T;LAMA3:NM_001127717:exon34:c.A4421C:p.K1474T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.A4421C:p.K1474T;ENSG00000053747:ENST00000313654:exon34:c.A4421C:p.K1474T;	0.999168407759273	0.946
18	21438792	A	G	18	23858828	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.A4421G:p.K1474R;LAMA3:NM_001127717:exon34:c.A4421G:p.K1474R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.A4421G:p.K1474R;ENSG00000053747:ENST00000313654:exon34:c.A4421G:p.K1474R;	0.999577776893691	0.982
18	21438792	A	T	18	23858828	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.A4421T:p.K1474M;LAMA3:NM_001127717:exon34:c.A4421T:p.K1474M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.A4421T:p.K1474M;ENSG00000053747:ENST00000313654:exon34:c.A4421T:p.K1474M;	0.999116961180637	0.968
18	21438793	G	A	18	23858829	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon34:c.G4422A:p.K1474K;LAMA3:NM_001127717:exon34:c.G4422A:p.K1474K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.G4422A:p.K1474K;ENSG00000053747:ENST00000313654:exon34:c.G4422A:p.K1474K;	0.999683971246067	0.95
18	21438793	G	C	18	23858829	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.G4422C:p.K1474N;LAMA3:NM_001127717:exon34:c.G4422C:p.K1474N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.G4422C:p.K1474N;ENSG00000053747:ENST00000313654:exon34:c.G4422C:p.K1474N;	0.999995566069353	1.0
18	21438793	G	T	18	23858829	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon34:c.G4422T:p.K1474N;LAMA3:NM_001127717:exon34:c.G4422T:p.K1474N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon34:c.G4422T:p.K1474N;ENSG00000053747:ENST00000313654:exon34:c.G4422T:p.K1474N;	0.99993722948485	0.998
18	21438794	G	A	18	23858830	y	y	splicing	LAMA3(NM_001127717:exon34:c.4422+1G>A;NM_198129:exon34:c.4422+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4422+1G>A;ENST00000399516:exon34:c.4422+1G>A)	.	.	0.999938422912956	0.92
18	21438794	G	C	18	23858830	y	y	splicing	LAMA3(NM_001127717:exon34:c.4422+1G>C;NM_198129:exon34:c.4422+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4422+1G>C;ENST00000399516:exon34:c.4422+1G>C)	.	.	0.999938422912956	0.942
18	21438794	G	T	18	23858830	y	y	splicing	LAMA3(NM_001127717:exon34:c.4422+1G>T;NM_198129:exon34:c.4422+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4422+1G>T;ENST00000399516:exon34:c.4422+1G>T)	.	.	0.999938422912956	0.93
18	21438795	T	A	18	23858831	y	y	splicing	LAMA3(NM_001127717:exon34:c.4422+2T>A;NM_198129:exon34:c.4422+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4422+2T>A;ENST00000399516:exon34:c.4422+2T>A)	.	.	0.99994568797423	0.938
18	21438795	T	C	18	23858831	y	y	splicing	LAMA3(NM_001127717:exon34:c.4422+2T>C;NM_198129:exon34:c.4422+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4422+2T>C;ENST00000399516:exon34:c.4422+2T>C)	.	.	0.943273932537554	0.628
18	21438795	T	G	18	23858831	y	y	splicing	LAMA3(NM_001127717:exon34:c.4422+2T>G;NM_198129:exon34:c.4422+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon34:c.4422+2T>G;ENST00000399516:exon34:c.4422+2T>G)	.	.	0.99994568797423	0.944
18	21438796	A	C	18	23858832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.925160461641192	0.58
18	21438796	A	G	18	23858832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.111174535703126	0.454
18	21438796	A	T	18	23858832	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.93959894470142	0.606
18	21438797	T	A	18	23858833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.19592695898926E-5	0.016
18	21438797	T	C	18	23858833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.55985657147556E-5	0.0
18	21438797	T	G	18	23858833	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.68746011767656E-5	0.0
18	21438798	G	A	18	23858834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.525407839489159	0.46
18	21438798	G	C	18	23858834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.834230721264568	0.52
18	21438798	G	T	18	23858834	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994105809101598	0.604
18	21438799	C	A	18	23858835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4368373573638E-4	0.0
18	21438799	C	G	18	23858835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.61917769315838E-5	0.028
18	21438799	C	T	18	23858835	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.05156065868424E-5	0.01
18	21438800	A	C	18	23858836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.0179871504536E-6	0.0
18	21438800	A	G	18	23858836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.49452989271916E-6	0.0
18	21438800	A	T	18	23858836	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.06630478784696E-5	0.004
18	21438801	T	A	18	23858837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.43514785875313E-5	0.012
18	21438801	T	C	18	23858837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.04860152160254E-5	0.0
18	21438801	T	G	18	23858837	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.06976634541944E-5	0.0
18	21441598	C	A	18	23861634	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00102523774846611	0.046
18	21441598	C	G	18	23861634	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58558879896074E-4	0.01
18	21441598	C	T	18	23861634	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.95328105223984E-5	0.0
18	21441599	C	A	18	23861635	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.64995273726929E-4	0.016
18	21441599	C	G	18	23861635	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.62082309020385E-5	0.012
18	21441599	C	T	18	23861635	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.35252059915726E-5	0.006
18	21441600	C	A	18	23861636	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.28745365626161E-4	0.094
18	21441600	C	G	18	23861636	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.56592406022559E-4	0.018
18	21441600	C	T	18	23861636	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.96812239266909E-5	0.004
18	21441601	T	A	18	23861637	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00110133590678868	0.132
18	21441601	T	C	18	23861637	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.07176587797567E-5	0.0
18	21441601	T	G	18	23861637	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.40430939020891E-4	0.062
18	21441602	C	A	18	23861638	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.64530081565624E-4	0.028
18	21441602	C	G	18	23861638	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.07895733928716E-5	0.044
18	21441602	C	T	18	23861638	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.19803065562884E-5	0.006
18	21441603	T	A	18	23861639	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.15961718391328E-5	0.002
18	21441603	T	C	18	23861639	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.16309959478135E-5	0.002
18	21441603	T	G	18	23861639	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.22005004276495E-5	0.004
18	21441604	T	A	18	23861640	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.03177528553366E-4	0.13
18	21441604	T	C	18	23861640	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.02720781093555E-5	0.02
18	21441604	T	G	18	23861640	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.158570682567E-4	0.142
18	21441605	T	A	18	23861641	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00243540073022297	0.232
18	21441605	T	C	18	23861641	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00189010150023046	0.056
18	21441605	T	G	18	23861641	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00221243295301837	0.24
18	21441606	C	A	18	23861642	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.80359406432149E-5	0.0
18	21441606	C	G	18	23861642	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.65361366065127E-5	0.002
18	21441606	C	T	18	23861642	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.80359406432149E-5	0.0
18	21441607	C	A	18	23861643	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.353809975966805	0.542
18	21441607	C	G	18	23861643	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999660653351012	0.932
18	21441607	C	T	18	23861643	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.73523358258642E-4	0.004
18	21441608	A	C	18	23861644	y	y	splicing	LAMA3(NM_001127717:exon35:c.4423-2A>C;NM_198129:exon35:c.4423-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4423-2A>C;ENST00000399516:exon35:c.4423-2A>C)	.	.	0.999988247793601	0.924
18	21441608	A	G	18	23861644	y	y	splicing	LAMA3(NM_001127717:exon35:c.4423-2A>G;NM_198129:exon35:c.4423-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4423-2A>G;ENST00000399516:exon35:c.4423-2A>G)	.	.	0.999988247793601	0.924
18	21441608	A	T	18	23861644	y	y	splicing	LAMA3(NM_001127717:exon35:c.4423-2A>T;NM_198129:exon35:c.4423-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4423-2A>T;ENST00000399516:exon35:c.4423-2A>T)	.	.	0.999988247793601	0.918
18	21441609	G	A	18	23861645	y	y	splicing	LAMA3(NM_001127717:exon35:c.4423-1G>A;NM_198129:exon35:c.4423-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4423-1G>A;ENST00000399516:exon35:c.4423-1G>A)	.	.	0.999986675681007	0.924
18	21441609	G	C	18	23861645	y	y	splicing	LAMA3(NM_001127717:exon35:c.4423-1G>C;NM_198129:exon35:c.4423-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4423-1G>C;ENST00000399516:exon35:c.4423-1G>C)	.	.	0.999986675681007	0.924
18	21441609	G	T	18	23861645	y	y	splicing	LAMA3(NM_001127717:exon35:c.4423-1G>T;NM_198129:exon35:c.4423-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4423-1G>T;ENST00000399516:exon35:c.4423-1G>T)	.	.	0.999986675681007	0.924
18	21441610	T	A	18	23861646	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.T4423A:p.F1475I;LAMA3:NM_001127717:exon35:c.T4423A:p.F1475I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.T4423A:p.F1475I;ENSG00000053747:ENST00000313654:exon35:c.T4423A:p.F1475I;	0.00140131376513775	0.09
18	21441610	T	C	18	23861646	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.T4423C:p.F1475L;LAMA3:NM_001127717:exon35:c.T4423C:p.F1475L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.T4423C:p.F1475L;ENSG00000053747:ENST00000313654:exon35:c.T4423C:p.F1475L;	0.00135342490634319	0.024
18	21441610	T	G	18	23861646	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.T4423G:p.F1475V;LAMA3:NM_001127717:exon35:c.T4423G:p.F1475V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.T4423G:p.F1475V;ENSG00000053747:ENST00000313654:exon35:c.T4423G:p.F1475V;	3.28978827902215E-4	0.078
18	21441611	T	A	18	23861647	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.T4424A:p.F1475Y;LAMA3:NM_001127717:exon35:c.T4424A:p.F1475Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.T4424A:p.F1475Y;ENSG00000053747:ENST00000313654:exon35:c.T4424A:p.F1475Y;	0.192401087451825	0.428
18	21441611	T	C	18	23861647	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.T4424C:p.F1475S;LAMA3:NM_001127717:exon35:c.T4424C:p.F1475S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.T4424C:p.F1475S;ENSG00000053747:ENST00000313654:exon35:c.T4424C:p.F1475S;	0.194937000298496	0.412
18	21441611	T	G	18	23861647	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.T4424G:p.F1475C;LAMA3:NM_001127717:exon35:c.T4424G:p.F1475C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.T4424G:p.F1475C;ENSG00000053747:ENST00000313654:exon35:c.T4424G:p.F1475C;	0.305413370174223	0.47
18	21441769	A	C	18	23861805	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.A4582C:p.K1528Q;LAMA3:NM_001127717:exon35:c.A4582C:p.K1528Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.A4582C:p.K1528Q;ENSG00000053747:ENST00000313654:exon35:c.A4582C:p.K1528Q;	0.666943346401355	0.69
18	21441769	A	G	18	23861805	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.A4582G:p.K1528E;LAMA3:NM_001127717:exon35:c.A4582G:p.K1528E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.A4582G:p.K1528E;ENSG00000053747:ENST00000313654:exon35:c.A4582G:p.K1528E;	0.725825357317407	0.514
18	21441769	A	T	18	23861805	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon35:c.A4582T:p.K1528X;LAMA3:NM_001127717:exon35:c.A4582T:p.K1528X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon35:c.A4582T:p.K1528X;ENSG00000053747:ENST00000313654:exon35:c.A4582T:p.K1528X;	0.996621944604409	0.762
18	21441770	A	C	18	23861806	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.A4583C:p.K1528T;LAMA3:NM_001127717:exon35:c.A4583C:p.K1528T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.A4583C:p.K1528T;ENSG00000053747:ENST00000313654:exon35:c.A4583C:p.K1528T;	0.99869724271671	0.89
18	21441770	A	G	18	23861806	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.A4583G:p.K1528R;LAMA3:NM_001127717:exon35:c.A4583G:p.K1528R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.A4583G:p.K1528R;ENSG00000053747:ENST00000313654:exon35:c.A4583G:p.K1528R;	0.97690561516739	0.802
18	21441770	A	T	18	23861806	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.A4583T:p.K1528M;LAMA3:NM_001127717:exon35:c.A4583T:p.K1528M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.A4583T:p.K1528M;ENSG00000053747:ENST00000313654:exon35:c.A4583T:p.K1528M;	0.999726317271268	0.934
18	21441771	G	A	18	23861807	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon35:c.G4584A:p.K1528K;LAMA3:NM_001127717:exon35:c.G4584A:p.K1528K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.G4584A:p.K1528K;ENSG00000053747:ENST00000313654:exon35:c.G4584A:p.K1528K;	0.999977995129625	1.0
18	21441771	G	C	18	23861807	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.G4584C:p.K1528N;LAMA3:NM_001127717:exon35:c.G4584C:p.K1528N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.G4584C:p.K1528N;ENSG00000053747:ENST00000313654:exon35:c.G4584C:p.K1528N;	0.999997528336746	0.99
18	21441771	G	T	18	23861807	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon35:c.G4584T:p.K1528N;LAMA3:NM_001127717:exon35:c.G4584T:p.K1528N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon35:c.G4584T:p.K1528N;ENSG00000053747:ENST00000313654:exon35:c.G4584T:p.K1528N;	0.99998873245523	0.97
18	21441772	G	A	18	23861808	y	y	splicing	LAMA3(NM_001127717:exon35:c.4584+1G>A;NM_198129:exon35:c.4584+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4584+1G>A;ENST00000399516:exon35:c.4584+1G>A)	.	.	0.999989483462543	0.938
18	21441772	G	C	18	23861808	y	y	splicing	LAMA3(NM_001127717:exon35:c.4584+1G>C;NM_198129:exon35:c.4584+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4584+1G>C;ENST00000399516:exon35:c.4584+1G>C)	.	.	0.999989483462543	0.938
18	21441772	G	T	18	23861808	y	y	splicing	LAMA3(NM_001127717:exon35:c.4584+1G>T;NM_198129:exon35:c.4584+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4584+1G>T;ENST00000399516:exon35:c.4584+1G>T)	.	.	0.999989483462543	0.938
18	21441773	T	A	18	23861809	y	y	splicing	LAMA3(NM_001127717:exon35:c.4584+2T>A;NM_198129:exon35:c.4584+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4584+2T>A;ENST00000399516:exon35:c.4584+2T>A)	.	.	0.999986607513753	0.922
18	21441773	T	C	18	23861809	y	y	splicing	LAMA3(NM_001127717:exon35:c.4584+2T>C;NM_198129:exon35:c.4584+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4584+2T>C;ENST00000399516:exon35:c.4584+2T>C)	.	.	0.993737977920058	0.602
18	21441773	T	G	18	23861809	y	y	splicing	LAMA3(NM_001127717:exon35:c.4584+2T>G;NM_198129:exon35:c.4584+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon35:c.4584+2T>G;ENST00000399516:exon35:c.4584+2T>G)	.	.	0.999986607513753	0.922
18	21441774	A	C	18	23861810	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999952528620577	0.952
18	21441774	A	G	18	23861810	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999648117037151	0.924
18	21441774	A	T	18	23861810	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999949774374764	0.95
18	21441775	A	C	18	23861811	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.97459191508485	0.506
18	21441775	A	G	18	23861811	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.985410450057464	0.746
18	21441775	A	T	18	23861811	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.956862526178728	0.538
18	21441776	T	A	18	23861812	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.68167742132497E-4	0.012
18	21441776	T	C	18	23861812	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.09467072952979E-5	0.002
18	21441776	T	G	18	23861812	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.11810632911401E-4	0.064
18	21441777	G	A	18	23861813	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.2234623970369E-4	0.008
18	21441777	G	C	18	23861813	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.2870105376364E-4	0.052
18	21441777	G	T	18	23861813	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.8515694099229E-5	0.0
18	21441778	A	C	18	23861814	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.63618347904412E-4	0.0
18	21441778	A	G	18	23861814	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.63618347904412E-4	0.004
18	21441778	A	T	18	23861814	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.56510114856804E-5	0.01
18	21441779	T	A	18	23861815	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45605582199301E-5	0.0
18	21441779	T	C	18	23861815	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.65855797425768E-5	0.0
18	21441779	T	G	18	23861815	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.34942038448453E-5	0.0
18	21444737	A	C	18	23864773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.95475695557639E-5	0.0
18	21444737	A	G	18	23864773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.344548776769676	0.754
18	21444737	A	T	18	23864773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.69249325246397E-5	0.0
18	21444738	T	A	18	23864774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0163429189721616	0.374
18	21444738	T	C	18	23864774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.22787460009729E-4	0.022
18	21444738	T	G	18	23864774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.986123237590734	0.862
18	21444739	T	A	18	23864775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00821858192711526	0.276
18	21444739	T	C	18	23864775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.2450125607783E-4	0.012
18	21444739	T	G	18	23864775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0139919054425394	0.3
18	21444740	C	A	18	23864776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.16225549642541E-4	0.09
18	21444740	C	G	18	23864776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.15104698810128E-4	0.012
18	21444740	C	T	18	23864776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.10867744179079E-5	0.0
18	21444741	C	A	18	23864777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.59569034828859E-4	0.09
18	21444741	C	G	18	23864777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.18991479341993E-4	0.066
18	21444741	C	T	18	23864777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.87222048725619E-5	0.004
18	21444742	A	C	18	23864778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.46571085566641E-5	0.0
18	21444742	A	G	18	23864778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.10698770661375E-5	0.012
18	21444742	A	T	18	23864778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.89714235151664E-5	0.012
18	21444743	T	A	18	23864779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.297817265085371	0.414
18	21444743	T	C	18	23864779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.52546893374282E-4	0.016
18	21444743	T	G	18	23864779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999617327898243	0.948
18	21444744	T	A	18	23864780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99425335207322	0.71
18	21444744	T	C	18	23864780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0998040245445559	0.232
18	21444744	T	G	18	23864780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.940059633746866	0.698
18	21444745	T	A	18	23864781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.60966514657897E-4	0.05
18	21444745	T	C	18	23864781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.35542975645671E-5	0.002
18	21444745	T	G	18	23864781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.26870850874332E-4	0.012
18	21444746	T	A	18	23864782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.83123641120261E-4	0.092
18	21444746	T	C	18	23864782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.32409231411251E-4	0.004
18	21444746	T	G	18	23864782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.306530889264986	0.552
18	21444747	A	C	18	23864783	y	y	splicing	LAMA3(NM_001127717:exon36:c.4585-2A>C;NM_198129:exon36:c.4585-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4585-2A>C;ENST00000399516:exon36:c.4585-2A>C)	.	.	0.999988247793601	0.928
18	21444747	A	G	18	23864783	y	y	splicing	LAMA3(NM_001127717:exon36:c.4585-2A>G;NM_198129:exon36:c.4585-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4585-2A>G;ENST00000399516:exon36:c.4585-2A>G)	.	.	0.999988247793601	0.928
18	21444747	A	T	18	23864783	y	y	splicing	LAMA3(NM_001127717:exon36:c.4585-2A>T;NM_198129:exon36:c.4585-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4585-2A>T;ENST00000399516:exon36:c.4585-2A>T)	.	.	0.999988247793601	0.928
18	21444748	G	A	18	23864784	y	y	splicing	LAMA3(NM_001127717:exon36:c.4585-1G>A;NM_198129:exon36:c.4585-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4585-1G>A;ENST00000399516:exon36:c.4585-1G>A)	.	.	0.999990361384395	0.936
18	21444748	G	C	18	23864784	y	y	splicing	LAMA3(NM_001127717:exon36:c.4585-1G>C;NM_198129:exon36:c.4585-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4585-1G>C;ENST00000399516:exon36:c.4585-1G>C)	.	.	0.999990361384395	0.936
18	21444748	G	T	18	23864784	y	y	splicing	LAMA3(NM_001127717:exon36:c.4585-1G>T;NM_198129:exon36:c.4585-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4585-1G>T;ENST00000399516:exon36:c.4585-1G>T)	.	.	0.999990361384395	0.936
18	21444749	G	A	18	23864785	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.G4585A:p.V1529I;LAMA3:NM_001127717:exon36:c.G4585A:p.V1529I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.G4585A:p.V1529I;ENSG00000053747:ENST00000313654:exon36:c.G4585A:p.V1529I;	0.810668743009503	0.6
18	21444749	G	C	18	23864785	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.G4585C:p.V1529L;LAMA3:NM_001127717:exon36:c.G4585C:p.V1529L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.G4585C:p.V1529L;ENSG00000053747:ENST00000313654:exon36:c.G4585C:p.V1529L;	0.974073594509017	0.638
18	21444749	G	T	18	23864785	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.G4585T:p.V1529F;LAMA3:NM_001127717:exon36:c.G4585T:p.V1529F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.G4585T:p.V1529F;ENSG00000053747:ENST00000313654:exon36:c.G4585T:p.V1529F;	0.999852404042897	0.992
18	21444750	T	A	18	23864786	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.T4586A:p.V1529D;LAMA3:NM_001127717:exon36:c.T4586A:p.V1529D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.T4586A:p.V1529D;ENSG00000053747:ENST00000313654:exon36:c.T4586A:p.V1529D;	0.522517678565205	0.554
18	21444750	T	C	18	23864786	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.T4586C:p.V1529A;LAMA3:NM_001127717:exon36:c.T4586C:p.V1529A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.T4586C:p.V1529A;ENSG00000053747:ENST00000313654:exon36:c.T4586C:p.V1529A;	0.707706899877611	0.576
18	21444750	T	G	18	23864786	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.T4586G:p.V1529G;LAMA3:NM_001127717:exon36:c.T4586G:p.V1529G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.T4586G:p.V1529G;ENSG00000053747:ENST00000313654:exon36:c.T4586G:p.V1529G;	0.52847817475384	0.508
18	21444845	A	C	18	23864881	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.A4681C:p.T1561P;LAMA3:NM_001127717:exon36:c.A4681C:p.T1561P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.A4681C:p.T1561P;ENSG00000053747:ENST00000313654:exon36:c.A4681C:p.T1561P;	0.0835496298591529	0.278
18	21444845	A	G	18	23864881	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.A4681G:p.T1561A;LAMA3:NM_001127717:exon36:c.A4681G:p.T1561A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.A4681G:p.T1561A;ENSG00000053747:ENST00000313654:exon36:c.A4681G:p.T1561A;	0.205665595664834	0.292
18	21444845	A	T	18	23864881	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.A4681T:p.T1561S;LAMA3:NM_001127717:exon36:c.A4681T:p.T1561S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.A4681T:p.T1561S;ENSG00000053747:ENST00000313654:exon36:c.A4681T:p.T1561S;	0.847155470256709	0.622
18	21444846	C	A	18	23864882	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.C4682A:p.T1561N;LAMA3:NM_001127717:exon36:c.C4682A:p.T1561N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.C4682A:p.T1561N;ENSG00000053747:ENST00000313654:exon36:c.C4682A:p.T1561N;	2.67486480341073E-4	0.182
18	21444846	C	G	18	23864882	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.C4682G:p.T1561S;LAMA3:NM_001127717:exon36:c.C4682G:p.T1561S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.C4682G:p.T1561S;ENSG00000053747:ENST00000313654:exon36:c.C4682G:p.T1561S;	8.72253141485602E-4	0.06
18	21444846	C	T	18	23864882	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon36:c.C4682T:p.T1561I;LAMA3:NM_001127717:exon36:c.C4682T:p.T1561I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.C4682T:p.T1561I;ENSG00000053747:ENST00000313654:exon36:c.C4682T:p.T1561I;	5.33635077425689E-4	0.092
18	21444847	T	A	18	23864883	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon36:c.T4683A:p.T1561T;LAMA3:NM_001127717:exon36:c.T4683A:p.T1561T;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.T4683A:p.T1561T;ENSG00000053747:ENST00000313654:exon36:c.T4683A:p.T1561T;	2.67612928607387E-5	0.086
18	21444847	T	C	18	23864883	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon36:c.T4683C:p.T1561T;LAMA3:NM_001127717:exon36:c.T4683C:p.T1561T;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.T4683C:p.T1561T;ENSG00000053747:ENST00000313654:exon36:c.T4683C:p.T1561T;	2.38567679173407E-5	0.146
18	21444847	T	G	18	23864883	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon36:c.T4683G:p.T1561T;LAMA3:NM_001127717:exon36:c.T4683G:p.T1561T;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon36:c.T4683G:p.T1561T;ENSG00000053747:ENST00000313654:exon36:c.T4683G:p.T1561T;	4.58596070433396E-5	0.018
18	21444848	G	A	18	23864884	y	y	splicing	LAMA3(NM_001127717:exon36:c.4683+1G>A;NM_198129:exon36:c.4683+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4683+1G>A;ENST00000399516:exon36:c.4683+1G>A)	.	.	0.999971851307944	0.92
18	21444848	G	C	18	23864884	y	y	splicing	LAMA3(NM_001127717:exon36:c.4683+1G>C;NM_198129:exon36:c.4683+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4683+1G>C;ENST00000399516:exon36:c.4683+1G>C)	.	.	0.999972110843846	0.928
18	21444848	G	T	18	23864884	y	y	splicing	LAMA3(NM_001127717:exon36:c.4683+1G>T;NM_198129:exon36:c.4683+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4683+1G>T;ENST00000399516:exon36:c.4683+1G>T)	.	.	0.999972110843846	0.928
18	21444849	T	A	18	23864885	y	y	splicing	LAMA3(NM_001127717:exon36:c.4683+2T>A;NM_198129:exon36:c.4683+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4683+2T>A;ENST00000399516:exon36:c.4683+2T>A)	.	.	0.999965995344028	0.936
18	21444849	T	C	18	23864885	y	y	splicing	LAMA3(NM_001127717:exon36:c.4683+2T>C;NM_198129:exon36:c.4683+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4683+2T>C;ENST00000399516:exon36:c.4683+2T>C)	.	.	0.938515643710011	0.62
18	21444849	T	G	18	23864885	y	y	splicing	LAMA3(NM_001127717:exon36:c.4683+2T>G;NM_198129:exon36:c.4683+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon36:c.4683+2T>G;ENST00000399516:exon36:c.4683+2T>G)	.	.	0.999965995344028	0.934
18	21444850	A	C	18	23864886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999598484930132	0.784
18	21444850	A	G	18	23864886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.588308739893022	0.56
18	21444850	A	T	18	23864886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999481296289877	0.83
18	21444851	G	A	18	23864887	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.89901391783687E-5	0.018
18	21444851	G	C	18	23864887	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.25183405221249E-5	0.164
18	21444851	G	T	18	23864887	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.54633952643309E-5	0.004
18	21444852	G	A	18	23864888	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999962662918514	0.944
18	21444852	G	C	18	23864888	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999984943691842	0.918
18	21444852	G	T	18	23864888	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999984943691842	0.912
18	21444853	T	A	18	23864889	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996292679824994	0.73
18	21444853	T	C	18	23864889	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99039216195334	0.762
18	21444853	T	G	18	23864889	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99479935526319	0.74
18	21444854	A	C	18	23864890	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.51394921546334E-5	0.004
18	21444854	A	G	18	23864890	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.94552759170653E-5	0.006
18	21444854	A	T	18	23864890	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.01901721779365E-5	0.064
18	21444855	T	A	18	23864891	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.42342614162516E-5	0.01
18	21444855	T	C	18	23864891	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.32410584130368E-5	0.02
18	21444855	T	G	18	23864891	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.32874829577496E-5	0.002
18	21447786	T	A	18	23867822	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.139184293180763	0.388
18	21447786	T	C	18	23867822	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00198971451994358	0.124
18	21447786	T	G	18	23867822	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0146937234329888	0.322
18	21447787	T	A	18	23867823	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.8450289376769	0.56
18	21447787	T	C	18	23867823	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0295691560668666	0.166
18	21447787	T	G	18	23867823	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.342434918375712	0.432
18	21447788	C	A	18	23867824	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.16093361873406E-4	0.084
18	21447788	C	G	18	23867824	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00397657691935714	0.074
18	21447788	C	T	18	23867824	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.61338208805152E-4	0.01
18	21447789	T	A	18	23867825	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.209494025353403	0.584
18	21447789	T	C	18	23867825	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.6873674589339E-4	0.01
18	21447789	T	G	18	23867825	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.201259891664655	0.56
18	21447790	T	A	18	23867826	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00195306953057387	0.118
18	21447790	T	C	18	23867826	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.07534944006451E-5	0.002
18	21447790	T	G	18	23867826	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00170549452741582	0.112
18	21447791	T	A	18	23867827	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0765709139310365	0.376
18	21447791	T	C	18	23867827	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.72123845113469E-4	0.024
18	21447791	T	G	18	23867827	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0179723554441858	0.254
18	21447792	A	C	18	23867828	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.63209470519487E-5	0.0
18	21447792	A	G	18	23867828	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.39427061224678E-5	0.0
18	21447792	A	T	18	23867828	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.62353046608951E-5	0.0
18	21447793	A	C	18	23867829	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.37019291401386E-5	0.0
18	21447793	A	G	18	23867829	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998889621972802	0.958
18	21447793	A	T	18	23867829	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.88615282740006E-5	0.0
18	21447794	A	C	18	23867830	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.47411090344124E-4	0.058
18	21447794	A	G	18	23867830	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995799564318016	0.86
18	21447794	A	T	18	23867830	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.80181881733875E-4	0.022
18	21447795	C	A	18	23867831	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.957227796094866	0.688
18	21447795	C	G	18	23867831	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999247404602348	0.72
18	21447795	C	T	18	23867831	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0100371002441085	0.23
18	21447796	A	C	18	23867832	y	y	splicing	LAMA3(NM_001127717:exon37:c.4684-2A>C;NM_198129:exon37:c.4684-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4684-2A>C;ENST00000399516:exon37:c.4684-2A>C)	.	.	0.999986741007567	0.944
18	21447796	A	G	18	23867832	y	y	splicing	LAMA3(NM_001127717:exon37:c.4684-2A>G;NM_198129:exon37:c.4684-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4684-2A>G;ENST00000399516:exon37:c.4684-2A>G)	.	.	0.999986741007567	0.944
18	21447796	A	T	18	23867832	y	y	splicing	LAMA3(NM_001127717:exon37:c.4684-2A>T;NM_198129:exon37:c.4684-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4684-2A>T;ENST00000399516:exon37:c.4684-2A>T)	.	.	0.999986741007567	0.944
18	21447797	G	A	18	23867833	y	y	splicing	LAMA3(NM_001127717:exon37:c.4684-1G>A;NM_198129:exon37:c.4684-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4684-1G>A;ENST00000399516:exon37:c.4684-1G>A)	.	.	0.999983677848485	0.942
18	21447797	G	C	18	23867833	y	y	splicing	LAMA3(NM_001127717:exon37:c.4684-1G>C;NM_198129:exon37:c.4684-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4684-1G>C;ENST00000399516:exon37:c.4684-1G>C)	.	.	0.999983677848485	0.942
18	21447797	G	T	18	23867833	y	y	splicing	LAMA3(NM_001127717:exon37:c.4684-1G>T;NM_198129:exon37:c.4684-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4684-1G>T;ENST00000399516:exon37:c.4684-1G>T)	.	.	0.999983677848485	0.942
18	21447798	G	A	18	23867834	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4684A:p.G1562S;LAMA3:NM_001127717:exon37:c.G4684A:p.G1562S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4684A:p.G1562S;ENSG00000053747:ENST00000313654:exon37:c.G4684A:p.G1562S;	0.859582427800882	0.546
18	21447798	G	C	18	23867834	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4684C:p.G1562R;LAMA3:NM_001127717:exon37:c.G4684C:p.G1562R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4684C:p.G1562R;ENSG00000053747:ENST00000313654:exon37:c.G4684C:p.G1562R;	0.984345726540772	0.82
18	21447798	G	T	18	23867834	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4684T:p.G1562C;LAMA3:NM_001127717:exon37:c.G4684T:p.G1562C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4684T:p.G1562C;ENSG00000053747:ENST00000313654:exon37:c.G4684T:p.G1562C;	0.997875641396314	0.904
18	21447799	G	A	18	23867835	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4685A:p.G1562D;LAMA3:NM_001127717:exon37:c.G4685A:p.G1562D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4685A:p.G1562D;ENSG00000053747:ENST00000313654:exon37:c.G4685A:p.G1562D;	0.981087769870653	0.812
18	21447799	G	C	18	23867835	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4685C:p.G1562A;LAMA3:NM_001127717:exon37:c.G4685C:p.G1562A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4685C:p.G1562A;ENSG00000053747:ENST00000313654:exon37:c.G4685C:p.G1562A;	0.958873315860583	0.856
18	21447799	G	T	18	23867835	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4685T:p.G1562V;LAMA3:NM_001127717:exon37:c.G4685T:p.G1562V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4685T:p.G1562V;ENSG00000053747:ENST00000313654:exon37:c.G4685T:p.G1562V;	0.97573886829533	0.848
18	21447879	G	A	18	23867915	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4765A:p.E1589K;LAMA3:NM_001127717:exon37:c.G4765A:p.E1589K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4765A:p.E1589K;ENSG00000053747:ENST00000313654:exon37:c.G4765A:p.E1589K;	0.961600165435239	0.76
18	21447879	G	C	18	23867915	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4765C:p.E1589Q;LAMA3:NM_001127717:exon37:c.G4765C:p.E1589Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4765C:p.E1589Q;ENSG00000053747:ENST00000313654:exon37:c.G4765C:p.E1589Q;	0.959577415532313	0.658
18	21447879	G	T	18	23867915	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon37:c.G4765T:p.E1589X;LAMA3:NM_001127717:exon37:c.G4765T:p.E1589X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon37:c.G4765T:p.E1589X;ENSG00000053747:ENST00000313654:exon37:c.G4765T:p.E1589X;	0.997869516660527	0.806
18	21447880	A	C	18	23867916	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.A4766C:p.E1589A;LAMA3:NM_001127717:exon37:c.A4766C:p.E1589A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.A4766C:p.E1589A;ENSG00000053747:ENST00000313654:exon37:c.A4766C:p.E1589A;	0.993820972253366	0.89
18	21447880	A	G	18	23867916	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.A4766G:p.E1589G;LAMA3:NM_001127717:exon37:c.A4766G:p.E1589G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.A4766G:p.E1589G;ENSG00000053747:ENST00000313654:exon37:c.A4766G:p.E1589G;	0.999828526556729	0.978
18	21447880	A	T	18	23867916	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.A4766T:p.E1589V;LAMA3:NM_001127717:exon37:c.A4766T:p.E1589V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.A4766T:p.E1589V;ENSG00000053747:ENST00000313654:exon37:c.A4766T:p.E1589V;	0.999811819567927	0.978
18	21447881	G	A	18	23867917	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon37:c.G4767A:p.E1589E;LAMA3:NM_001127717:exon37:c.G4767A:p.E1589E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4767A:p.E1589E;ENSG00000053747:ENST00000313654:exon37:c.G4767A:p.E1589E;	0.999978008519034	0.996
18	21447881	G	C	18	23867917	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4767C:p.E1589D;LAMA3:NM_001127717:exon37:c.G4767C:p.E1589D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4767C:p.E1589D;ENSG00000053747:ENST00000313654:exon37:c.G4767C:p.E1589D;	0.999997610789446	1.0
18	21447881	G	T	18	23867917	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon37:c.G4767T:p.E1589D;LAMA3:NM_001127717:exon37:c.G4767T:p.E1589D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon37:c.G4767T:p.E1589D;ENSG00000053747:ENST00000313654:exon37:c.G4767T:p.E1589D;	0.999992085169995	0.994
18	21447882	G	A	18	23867918	y	y	splicing	LAMA3(NM_001127717:exon37:c.4767+1G>A;NM_198129:exon37:c.4767+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4767+1G>A;ENST00000399516:exon37:c.4767+1G>A)	.	.	0.99995545544995	0.932
18	21447882	G	C	18	23867918	y	y	splicing	LAMA3(NM_001127717:exon37:c.4767+1G>C;NM_198129:exon37:c.4767+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4767+1G>C;ENST00000399516:exon37:c.4767+1G>C)	.	.	0.99995545544995	0.942
18	21447882	G	T	18	23867918	y	y	splicing	LAMA3(NM_001127717:exon37:c.4767+1G>T;NM_198129:exon37:c.4767+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4767+1G>T;ENST00000399516:exon37:c.4767+1G>T)	.	.	0.99995545544995	0.938
18	21447883	T	A	18	23867919	y	y	splicing	LAMA3(NM_001127717:exon37:c.4767+2T>A;NM_198129:exon37:c.4767+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4767+2T>A;ENST00000399516:exon37:c.4767+2T>A)	.	.	0.99994568797423	0.938
18	21447883	T	C	18	23867919	y	y	splicing	LAMA3(NM_001127717:exon37:c.4767+2T>C;NM_198129:exon37:c.4767+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4767+2T>C;ENST00000399516:exon37:c.4767+2T>C)	.	.	0.952527091078767	0.694
18	21447883	T	G	18	23867919	y	y	splicing	LAMA3(NM_001127717:exon37:c.4767+2T>G;NM_198129:exon37:c.4767+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon37:c.4767+2T>G;ENST00000399516:exon37:c.4767+2T>G)	.	.	0.99994568797423	0.942
18	21447884	A	C	18	23867920	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999881201824424	0.94
18	21447884	A	G	18	23867920	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998894346643084	0.716
18	21447884	A	T	18	23867920	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999895210160888	0.95
18	21447885	A	C	18	23867921	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.101864460342812	0.342
18	21447885	A	G	18	23867921	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.950342620421631	0.704
18	21447885	A	T	18	23867921	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0963266727593625	0.358
18	21447886	A	C	18	23867922	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.70253304562036E-4	0.014
18	21447886	A	G	18	23867922	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.38410639632455E-5	0.01
18	21447886	A	T	18	23867922	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.42641512171753E-4	0.01
18	21447887	G	A	18	23867923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.03551185178248E-4	0.004
18	21447887	G	C	18	23867923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.01739405945382E-4	0.01
18	21447887	G	T	18	23867923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.76323620511269E-5	0.0
18	21447888	G	A	18	23867924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00140283918685211	0.012
18	21447888	G	C	18	23867924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.97652216466698E-4	0.004
18	21447888	G	T	18	23867924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.25784324541774E-4	0.012
18	21447889	A	C	18	23867925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6690006397733E-4	0.008
18	21447889	A	G	18	23867925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6690006397733E-4	0.008
18	21447889	A	T	18	23867925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.78890319855431E-5	0.002
18	21451383	T	A	18	23871419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.84097537661451	0.582
18	21451383	T	C	18	23871419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.88746111689732E-4	0.032
18	21451383	T	G	18	23871419	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.822529442848122	0.54
18	21451384	T	A	18	23871420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998905986442447	0.9
18	21451384	T	C	18	23871420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.443937002582868	0.354
18	21451384	T	G	18	23871420	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99525256069542	0.844
18	21451385	C	A	18	23871421	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00646710072114726	0.172
18	21451385	C	G	18	23871421	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00406023363773258	0.12
18	21451385	C	T	18	23871421	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.60786892125992E-5	0.072
18	21451386	C	A	18	23871422	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0643104641769042	0.2
18	21451386	C	G	18	23871422	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0679817989422942	0.296
18	21451386	C	T	18	23871422	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.197375018657229	0.344
18	21451387	A	C	18	23871423	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.60498678085274E-4	0.002
18	21451387	A	G	18	23871423	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.60982562192068E-4	0.002
18	21451387	A	T	18	23871423	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.61465250606455E-4	0.012
18	21451388	T	A	18	23871424	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.988233301191226	0.876
18	21451388	T	C	18	23871424	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.34464342432382E-4	0.024
18	21451388	T	G	18	23871424	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998149549253909	0.902
18	21451389	G	A	18	23871425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.8329218694231E-5	0.0
18	21451389	G	C	18	23871425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.8322765150152E-5	0.004
18	21451389	G	T	18	23871425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.47820248829411E-5	0.008
18	21451390	T	A	18	23871426	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998510119867796	0.814
18	21451390	T	C	18	23871426	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.61013217839313E-4	0.012
18	21451390	T	G	18	23871426	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.122540486802411	0.426
18	21451391	G	A	18	23871427	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.63289180641898E-5	0.0
18	21451391	G	C	18	23871427	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.07769169410566E-5	0.0
18	21451391	G	T	18	23871427	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.89244400013905E-5	0.002
18	21451392	T	A	18	23871428	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00584461136845384	0.308
18	21451392	T	C	18	23871428	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44008077571518E-5	0.008
18	21451392	T	G	18	23871428	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.985877578372424	0.694
18	21451393	A	C	18	23871429	y	y	splicing	LAMA3(NM_001127717:exon38:c.4768-2A>C;NM_198129:exon38:c.4768-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4768-2A>C;ENST00000399516:exon38:c.4768-2A>C)	.	.	0.999988247793601	0.926
18	21451393	A	G	18	23871429	y	y	splicing	LAMA3(NM_001127717:exon38:c.4768-2A>G;NM_198129:exon38:c.4768-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4768-2A>G;ENST00000399516:exon38:c.4768-2A>G)	.	.	0.999988247793601	0.926
18	21451393	A	T	18	23871429	y	y	splicing	LAMA3(NM_001127717:exon38:c.4768-2A>T;NM_198129:exon38:c.4768-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4768-2A>T;ENST00000399516:exon38:c.4768-2A>T)	.	.	0.999988247793601	0.926
18	21451394	G	A	18	23871430	y	y	splicing	LAMA3(NM_001127717:exon38:c.4768-1G>A;NM_198129:exon38:c.4768-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4768-1G>A;ENST00000399516:exon38:c.4768-1G>A)	.	.	0.999990361384395	0.936
18	21451394	G	C	18	23871430	y	y	splicing	LAMA3(NM_001127717:exon38:c.4768-1G>C;NM_198129:exon38:c.4768-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4768-1G>C;ENST00000399516:exon38:c.4768-1G>C)	.	.	0.999990361384395	0.936
18	21451394	G	T	18	23871430	y	y	splicing	LAMA3(NM_001127717:exon38:c.4768-1G>T;NM_198129:exon38:c.4768-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4768-1G>T;ENST00000399516:exon38:c.4768-1G>T)	.	.	0.999990361384395	0.936
18	21451395	G	A	18	23871431	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.G4768A:p.G1590R;LAMA3:NM_001127717:exon38:c.G4768A:p.G1590R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.G4768A:p.G1590R;ENSG00000053747:ENST00000313654:exon38:c.G4768A:p.G1590R;	0.0368879713975069	0.248
18	21451395	G	C	18	23871431	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.G4768C:p.G1590R;LAMA3:NM_001127717:exon38:c.G4768C:p.G1590R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.G4768C:p.G1590R;ENSG00000053747:ENST00000313654:exon38:c.G4768C:p.G1590R;	0.110022303262881	0.434
18	21451395	G	T	18	23871431	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon38:c.G4768T:p.G1590X;LAMA3:NM_001127717:exon38:c.G4768T:p.G1590X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon38:c.G4768T:p.G1590X;ENSG00000053747:ENST00000313654:exon38:c.G4768T:p.G1590X;	0.997525766808662	0.788
18	21451396	G	A	18	23871432	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.G4769A:p.G1590E;LAMA3:NM_001127717:exon38:c.G4769A:p.G1590E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.G4769A:p.G1590E;ENSG00000053747:ENST00000313654:exon38:c.G4769A:p.G1590E;	0.983283158035725	0.742
18	21451396	G	C	18	23871432	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.G4769C:p.G1590A;LAMA3:NM_001127717:exon38:c.G4769C:p.G1590A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.G4769C:p.G1590A;ENSG00000053747:ENST00000313654:exon38:c.G4769C:p.G1590A;	0.0242441359578611	0.148
18	21451396	G	T	18	23871432	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.G4769T:p.G1590V;LAMA3:NM_001127717:exon38:c.G4769T:p.G1590V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.G4769T:p.G1590V;ENSG00000053747:ENST00000313654:exon38:c.G4769T:p.G1590V;	0.977411874150647	0.786
18	21451623	C	A	18	23871659	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.C4996A:p.Q1666K;LAMA3:NM_001127717:exon38:c.C4996A:p.Q1666K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.C4996A:p.Q1666K;ENSG00000053747:ENST00000313654:exon38:c.C4996A:p.Q1666K;	0.885771368485792	0.808
18	21451623	C	G	18	23871659	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.C4996G:p.Q1666E;LAMA3:NM_001127717:exon38:c.C4996G:p.Q1666E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.C4996G:p.Q1666E;ENSG00000053747:ENST00000313654:exon38:c.C4996G:p.Q1666E;	0.918761746114546	0.632
18	21451623	C	T	18	23871659	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon38:c.C4996T:p.Q1666X;LAMA3:NM_001127717:exon38:c.C4996T:p.Q1666X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000399516:exon38:c.C4996T:p.Q1666X;ENSG00000053747:ENST00000313654:exon38:c.C4996T:p.Q1666X;	0.999427981901163	0.954
18	21451624	A	C	18	23871660	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.A4997C:p.Q1666P;LAMA3:NM_001127717:exon38:c.A4997C:p.Q1666P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.A4997C:p.Q1666P;ENSG00000053747:ENST00000313654:exon38:c.A4997C:p.Q1666P;	0.999819431354967	0.996
18	21451624	A	G	18	23871660	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.A4997G:p.Q1666R;LAMA3:NM_001127717:exon38:c.A4997G:p.Q1666R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.A4997G:p.Q1666R;ENSG00000053747:ENST00000313654:exon38:c.A4997G:p.Q1666R;	0.99988464754631	1.0
18	21451624	A	T	18	23871660	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.A4997T:p.Q1666L;LAMA3:NM_001127717:exon38:c.A4997T:p.Q1666L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.A4997T:p.Q1666L;ENSG00000053747:ENST00000313654:exon38:c.A4997T:p.Q1666L;	0.999907925604823	0.99
18	21451625	G	A	18	23871661	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon38:c.G4998A:p.Q1666Q;LAMA3:NM_001127717:exon38:c.G4998A:p.Q1666Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.G4998A:p.Q1666Q;ENSG00000053747:ENST00000313654:exon38:c.G4998A:p.Q1666Q;	0.999558062214439	0.968
18	21451625	G	C	18	23871661	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.G4998C:p.Q1666H;LAMA3:NM_001127717:exon38:c.G4998C:p.Q1666H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.G4998C:p.Q1666H;ENSG00000053747:ENST00000313654:exon38:c.G4998C:p.Q1666H;	0.999994945715026	0.994
18	21451625	G	T	18	23871661	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon38:c.G4998T:p.Q1666H;LAMA3:NM_001127717:exon38:c.G4998T:p.Q1666H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000399516:exon38:c.G4998T:p.Q1666H;ENSG00000053747:ENST00000313654:exon38:c.G4998T:p.Q1666H;	0.999987219666871	1.0
18	21451626	G	A	18	23871662	y	y	splicing	LAMA3(NM_001127717:exon38:c.4998+1G>A;NM_198129:exon38:c.4998+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4998+1G>A;ENST00000399516:exon38:c.4998+1G>A)	.	.	0.999990361384395	0.938
18	21451626	G	C	18	23871662	y	y	splicing	LAMA3(NM_001127717:exon38:c.4998+1G>C;NM_198129:exon38:c.4998+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4998+1G>C;ENST00000399516:exon38:c.4998+1G>C)	.	.	0.999990361384395	0.938
18	21451626	G	T	18	23871662	y	y	splicing	LAMA3(NM_001127717:exon38:c.4998+1G>T;NM_198129:exon38:c.4998+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4998+1G>T;ENST00000399516:exon38:c.4998+1G>T)	.	.	0.999990361384395	0.938
18	21451627	T	A	18	23871663	y	y	splicing	LAMA3(NM_001127717:exon38:c.4998+2T>A;NM_198129:exon38:c.4998+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4998+2T>A;ENST00000399516:exon38:c.4998+2T>A)	.	.	0.999988247793601	0.93
18	21451627	T	C	18	23871663	y	y	splicing	LAMA3(NM_001127717:exon38:c.4998+2T>C;NM_198129:exon38:c.4998+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4998+2T>C;ENST00000399516:exon38:c.4998+2T>C)	.	.	0.99340600729494	0.662
18	21451627	T	G	18	23871663	y	y	splicing	LAMA3(NM_001127717:exon38:c.4998+2T>G;NM_198129:exon38:c.4998+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon38:c.4998+2T>G;ENST00000399516:exon38:c.4998+2T>G)	.	.	0.999988247793601	0.93
18	21451628	A	C	18	23871664	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.989252048919743	0.81
18	21451628	A	G	18	23871664	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.693640977056486	0.582
18	21451628	A	T	18	23871664	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997456462332365	0.82
18	21451629	G	A	18	23871665	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.05943694122713E-4	0.074
18	21451629	G	C	18	23871665	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00121202525750249	0.156
18	21451629	G	T	18	23871665	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00187321346714867	0.08
18	21451630	G	A	18	23871666	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.982984404302798	0.714
18	21451630	G	C	18	23871666	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999554419277399	0.854
18	21451630	G	T	18	23871666	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999930655697007	0.908
18	21451631	A	C	18	23871667	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00524441831671204	0.052
18	21451631	A	G	18	23871667	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.04732469797724E-4	0.004
18	21451631	A	T	18	23871667	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.60805714676718E-4	0.008
18	21451632	A	C	18	23871668	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.40202559021094E-5	0.014
18	21451632	A	G	18	23871668	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.77497039365624E-5	0.018
18	21451632	A	T	18	23871668	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.80447667337362E-5	0.016
18	21451633	G	A	18	23871669	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.45607869198198E-5	0.0
18	21451633	G	C	18	23871669	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.21599610917379E-5	0.0
18	21451633	G	T	18	23871669	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.72921863071145E-5	0.0
18	21453177	C	A	18	23873213	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_001127718:exon1:c.C169A:p.Q57K;LAMA3:NM_000227:exon1:c.C169A:p.Q57K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon1:c.C169A:p.Q57K;ENSG00000053747:ENST00000587184:exon1:c.C169A:p.Q57K;	0.12753867511685	0.454
18	21453177	C	G	18	23873213	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_001127718:exon1:c.C169G:p.Q57E;LAMA3:NM_000227:exon1:c.C169G:p.Q57E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon1:c.C169G:p.Q57E;ENSG00000053747:ENST00000587184:exon1:c.C169G:p.Q57E;	0.00771949961847893	0.226
18	21453177	C	T	18	23873213	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_001127718:exon1:c.C169T:p.Q57X;LAMA3:NM_000227:exon1:c.C169T:p.Q57X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon1:c.C169T:p.Q57X;ENSG00000053747:ENST00000587184:exon1:c.C169T:p.Q57X;	0.178708837391432	0.47
18	21453178	A	C	18	23873214	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_001127718:exon1:c.A170C:p.Q57P;LAMA3:NM_000227:exon1:c.A170C:p.Q57P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon1:c.A170C:p.Q57P;ENSG00000053747:ENST00000587184:exon1:c.A170C:p.Q57P;	0.762782195123741	0.642
18	21453178	A	G	18	23873214	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_001127718:exon1:c.A170G:p.Q57R;LAMA3:NM_000227:exon1:c.A170G:p.Q57R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon1:c.A170G:p.Q57R;ENSG00000053747:ENST00000587184:exon1:c.A170G:p.Q57R;	0.814099857273374	0.7
18	21453178	A	T	18	23873214	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_001127718:exon1:c.A170T:p.Q57L;LAMA3:NM_000227:exon1:c.A170T:p.Q57L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon1:c.A170T:p.Q57L;ENSG00000053747:ENST00000587184:exon1:c.A170T:p.Q57L;	0.814099857273374	0.698
18	21453179	G	A	18	23873215	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_001127718:exon1:c.G171A:p.Q57Q;LAMA3:NM_000227:exon1:c.G171A:p.Q57Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon1:c.G171A:p.Q57Q;ENSG00000053747:ENST00000587184:exon1:c.G171A:p.Q57Q;	0.0358006737300201	0.07
18	21453179	G	C	18	23873215	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_001127718:exon1:c.G171C:p.Q57H;LAMA3:NM_000227:exon1:c.G171C:p.Q57H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon1:c.G171C:p.Q57H;ENSG00000053747:ENST00000587184:exon1:c.G171C:p.Q57H;	0.995046026859171	0.868
18	21453179	G	T	18	23873215	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_001127718:exon1:c.G171T:p.Q57H;LAMA3:NM_000227:exon1:c.G171T:p.Q57H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon1:c.G171T:p.Q57H;ENSG00000053747:ENST00000587184:exon1:c.G171T:p.Q57H;	0.994029703713196	0.886
18	21453180	G	A	18	23873216	y	y	splicing	LAMA3(NM_001127718:exon1:c.171+1G>A;NM_000227:exon1:c.171+1G>A)	.	.	splicing	ENSG00000053747(ENST00000269217:exon1:c.171+1G>A;ENST00000587184:exon1:c.171+1G>A)	.	.	0.983394749551851	0.864
18	21453180	G	C	18	23873216	y	y	splicing	LAMA3(NM_001127718:exon1:c.171+1G>C;NM_000227:exon1:c.171+1G>C)	.	.	splicing	ENSG00000053747(ENST00000269217:exon1:c.171+1G>C;ENST00000587184:exon1:c.171+1G>C)	.	.	0.967365239243294	0.816
18	21453180	G	T	18	23873216	y	y	splicing	LAMA3(NM_001127718:exon1:c.171+1G>T;NM_000227:exon1:c.171+1G>T)	.	.	splicing	ENSG00000053747(ENST00000269217:exon1:c.171+1G>T;ENST00000587184:exon1:c.171+1G>T)	.	.	0.983394749551851	0.87
18	21453181	T	A	18	23873217	y	y	splicing	LAMA3(NM_001127718:exon1:c.171+2T>A;NM_000227:exon1:c.171+2T>A)	.	.	splicing	ENSG00000053747(ENST00000269217:exon1:c.171+2T>A;ENST00000587184:exon1:c.171+2T>A)	.	.	0.361656073935312	0.6
18	21453181	T	C	18	23873217	y	y	splicing	LAMA3(NM_001127718:exon1:c.171+2T>C;NM_000227:exon1:c.171+2T>C)	.	.	splicing	ENSG00000053747(ENST00000269217:exon1:c.171+2T>C;ENST00000587184:exon1:c.171+2T>C)	.	.	0.161266588873706	0.464
18	21453181	T	G	18	23873217	y	y	splicing	LAMA3(NM_001127718:exon1:c.171+2T>G;NM_000227:exon1:c.171+2T>G)	.	.	splicing	ENSG00000053747(ENST00000269217:exon1:c.171+2T>G;ENST00000587184:exon1:c.171+2T>G)	.	.	0.161266588873706	0.464
18	21453182	A	C	18	23873218	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00572874211209138	0.028
18	21453182	A	G	18	23873218	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00572874211209138	0.028
18	21453182	A	T	18	23873218	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00980707627852734	0.03
18	21453183	A	C	18	23873219	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00561933144286059	0.026
18	21453183	A	G	18	23873219	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00561933144286059	0.028
18	21453183	A	T	18	23873219	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00572874211209138	0.026
18	21453184	C	A	18	23873220	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.02337758398172E-4	0.0
18	21453184	C	G	18	23873220	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.02337758398172E-4	0.0
18	21453184	C	T	18	23873220	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.02337758398172E-4	0.0
18	21453185	G	A	18	23873221	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.36681691224865E-5	0.0
18	21453185	G	C	18	23873221	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.19348260541807E-5	0.0
18	21453185	G	T	18	23873221	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.19348260541807E-5	0.0
18	21453186	T	A	18	23873222	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.40094287361931E-5	0.0
18	21453186	T	C	18	23873222	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.50312366030491E-5	0.0
18	21453186	T	G	18	23873222	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.50312366030491E-5	0.0
18	21453187	C	A	18	23873223	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.60784786063524E-4	0.046
18	21453187	C	G	18	23873223	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.78413741141499E-4	0.048
18	21453187	C	T	18	23873223	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.60784786063524E-4	0.046
18	21456246	T	A	18	23876282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.538342868261623	0.658
18	21456246	T	C	18	23876282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00191391402013159	0.188
18	21456246	T	G	18	23876282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.39836851591202	0.622
18	21456247	T	A	18	23876283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.690923011265687	0.662
18	21456247	T	C	18	23876283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0313844189157977	0.338
18	21456247	T	G	18	23876283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.491332463517258	0.558
18	21456248	T	A	18	23876284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999683609496694	0.9
18	21456248	T	C	18	23876284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0349353983913196	0.262
18	21456248	T	G	18	23876284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.962247622485734	0.68
18	21456249	G	A	18	23876285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.09415253905815E-4	0.088
18	21456249	G	C	18	23876285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.41686179681306E-4	0.046
18	21456249	G	T	18	23876285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.41686179681306E-4	0.026
18	21456250	A	C	18	23876286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.18681539435057E-5	0.002
18	21456250	A	G	18	23876286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.99906723431397E-4	0.018
18	21456250	A	T	18	23876286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.18681539435057E-5	0.022
18	21456251	A	C	18	23876287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.53176801537375E-5	0.044
18	21456251	A	G	18	23876287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999412288920889	0.986
18	21456251	A	T	18	23876287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.20558549401791E-5	0.072
18	21456252	A	C	18	23876288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.25439944096813E-4	0.112
18	21456252	A	G	18	23876288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99906444061025	0.97
18	21456252	A	T	18	23876288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.24221212114603E-4	0.03
18	21456253	A	C	18	23876289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.99428568909003E-5	0.028
18	21456253	A	G	18	23876289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99906444061025	0.972
18	21456253	A	T	18	23876289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.85531902743969E-4	0.1
18	21456254	A	C	18	23876290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.09142199655285E-5	0.022
18	21456254	A	G	18	23876290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.985010557659641	0.978
18	21456254	A	T	18	23876290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.32513473635444E-5	0.016
18	21456255	T	A	18	23876291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00479842130864337	0.19
18	21456255	T	C	18	23876291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.90325938692202E-5	0.004
18	21456255	T	G	18	23876291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.060011857426044	0.456
18	21456256	A	C	18	23876292	y	y	splicing	LAMA3(NM_001127717:exon39:c.4999-2A>C;NM_198129:exon39:c.4999-2A>C;NM_001127718:exon2:c.172-2A>C;NM_000227:exon2:c.172-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.4999-2A>C;ENST00000399516:exon39:c.4999-2A>C;ENST00000269217:exon2:c.172-2A>C;ENST00000587184:exon2:c.172-2A>C)	.	.	0.999914511980801	0.87
18	21456256	A	G	18	23876292	y	y	splicing	LAMA3(NM_001127717:exon39:c.4999-2A>G;NM_198129:exon39:c.4999-2A>G;NM_001127718:exon2:c.172-2A>G;NM_000227:exon2:c.172-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.4999-2A>G;ENST00000399516:exon39:c.4999-2A>G;ENST00000269217:exon2:c.172-2A>G;ENST00000587184:exon2:c.172-2A>G)	.	.	0.999914511980801	0.87
18	21456256	A	T	18	23876292	y	y	splicing	LAMA3(NM_001127717:exon39:c.4999-2A>T;NM_198129:exon39:c.4999-2A>T;NM_001127718:exon2:c.172-2A>T;NM_000227:exon2:c.172-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.4999-2A>T;ENST00000399516:exon39:c.4999-2A>T;ENST00000269217:exon2:c.172-2A>T;ENST00000587184:exon2:c.172-2A>T)	.	.	0.999914511980801	0.872
18	21456257	G	A	18	23876293	y	y	splicing	LAMA3(NM_001127717:exon39:c.4999-1G>A;NM_198129:exon39:c.4999-1G>A;NM_001127718:exon2:c.172-1G>A;NM_000227:exon2:c.172-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.4999-1G>A;ENST00000399516:exon39:c.4999-1G>A;ENST00000269217:exon2:c.172-1G>A;ENST00000587184:exon2:c.172-1G>A)	.	.	0.999985060940668	0.868
18	21456257	G	C	18	23876293	y	y	splicing	LAMA3(NM_001127717:exon39:c.4999-1G>C;NM_198129:exon39:c.4999-1G>C;NM_001127718:exon2:c.172-1G>C;NM_000227:exon2:c.172-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.4999-1G>C;ENST00000399516:exon39:c.4999-1G>C;ENST00000269217:exon2:c.172-1G>C;ENST00000587184:exon2:c.172-1G>C)	.	.	0.999985060940668	0.868
18	21456257	G	T	18	23876293	y	y	splicing	LAMA3(NM_001127717:exon39:c.4999-1G>T;NM_198129:exon39:c.4999-1G>T;NM_001127718:exon2:c.172-1G>T;NM_000227:exon2:c.172-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.4999-1G>T;ENST00000399516:exon39:c.4999-1G>T;ENST00000269217:exon2:c.172-1G>T;ENST00000587184:exon2:c.172-1G>T)	.	.	0.999985060940668	0.868
18	21456258	G	A	18	23876294	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G4999A:p.G1667S;LAMA3:NM_001127718:exon2:c.G172A:p.G58S;LAMA3:NM_001127717:exon39:c.G4999A:p.G1667S;LAMA3:NM_000227:exon2:c.G172A:p.G58S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G172A:p.G58S;ENSG00000053747:ENST00000587184:exon2:c.G172A:p.G58S;ENSG00000053747:ENST00000399516:exon39:c.G4999A:p.G1667S;ENSG00000053747:ENST00000313654:exon39:c.G4999A:p.G1667S;	0.29823900012251	0.538
18	21456258	G	C	18	23876294	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G4999C:p.G1667R;LAMA3:NM_001127718:exon2:c.G172C:p.G58R;LAMA3:NM_001127717:exon39:c.G4999C:p.G1667R;LAMA3:NM_000227:exon2:c.G172C:p.G58R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G172C:p.G58R;ENSG00000053747:ENST00000587184:exon2:c.G172C:p.G58R;ENSG00000053747:ENST00000399516:exon39:c.G4999C:p.G1667R;ENSG00000053747:ENST00000313654:exon39:c.G4999C:p.G1667R;	0.310638707022428	0.732
18	21456258	G	T	18	23876294	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G4999T:p.G1667C;LAMA3:NM_001127718:exon2:c.G172T:p.G58C;LAMA3:NM_001127717:exon39:c.G4999T:p.G1667C;LAMA3:NM_000227:exon2:c.G172T:p.G58C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G172T:p.G58C;ENSG00000053747:ENST00000587184:exon2:c.G172T:p.G58C;ENSG00000053747:ENST00000399516:exon39:c.G4999T:p.G1667C;ENSG00000053747:ENST00000313654:exon39:c.G4999T:p.G1667C;	0.935670803238638	0.828
18	21456259	G	A	18	23876295	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G5000A:p.G1667D;LAMA3:NM_001127718:exon2:c.G173A:p.G58D;LAMA3:NM_001127717:exon39:c.G5000A:p.G1667D;LAMA3:NM_000227:exon2:c.G173A:p.G58D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G173A:p.G58D;ENSG00000053747:ENST00000587184:exon2:c.G173A:p.G58D;ENSG00000053747:ENST00000399516:exon39:c.G5000A:p.G1667D;ENSG00000053747:ENST00000313654:exon39:c.G5000A:p.G1667D;	0.00104294214904927	0.078
18	21456259	G	C	18	23876295	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G5000C:p.G1667A;LAMA3:NM_001127718:exon2:c.G173C:p.G58A;LAMA3:NM_001127717:exon39:c.G5000C:p.G1667A;LAMA3:NM_000227:exon2:c.G173C:p.G58A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G173C:p.G58A;ENSG00000053747:ENST00000587184:exon2:c.G173C:p.G58A;ENSG00000053747:ENST00000399516:exon39:c.G5000C:p.G1667A;ENSG00000053747:ENST00000313654:exon39:c.G5000C:p.G1667A;	0.0041747390836172	0.148
18	21456259	G	T	18	23876295	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G5000T:p.G1667V;LAMA3:NM_001127718:exon2:c.G173T:p.G58V;LAMA3:NM_001127717:exon39:c.G5000T:p.G1667V;LAMA3:NM_000227:exon2:c.G173T:p.G58V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G173T:p.G58V;ENSG00000053747:ENST00000587184:exon2:c.G173T:p.G58V;ENSG00000053747:ENST00000399516:exon39:c.G5000T:p.G1667V;ENSG00000053747:ENST00000313654:exon39:c.G5000T:p.G1667V;	0.276203867204919	0.528
18	21456369	G	A	18	23876405	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G5110A:p.V1704I;LAMA3:NM_001127718:exon2:c.G283A:p.V95I;LAMA3:NM_001127717:exon39:c.G5110A:p.V1704I;LAMA3:NM_000227:exon2:c.G283A:p.V95I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G283A:p.V95I;ENSG00000053747:ENST00000587184:exon2:c.G283A:p.V95I;ENSG00000053747:ENST00000399516:exon39:c.G5110A:p.V1704I;ENSG00000053747:ENST00000313654:exon39:c.G5110A:p.V1704I;	5.38042018384088E-6	0.0
18	21456369	G	C	18	23876405	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G5110C:p.V1704L;LAMA3:NM_001127718:exon2:c.G283C:p.V95L;LAMA3:NM_001127717:exon39:c.G5110C:p.V1704L;LAMA3:NM_000227:exon2:c.G283C:p.V95L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G283C:p.V95L;ENSG00000053747:ENST00000587184:exon2:c.G283C:p.V95L;ENSG00000053747:ENST00000399516:exon39:c.G5110C:p.V1704L;ENSG00000053747:ENST00000313654:exon39:c.G5110C:p.V1704L;	2.06268264914597E-5	0.056
18	21456369	G	T	18	23876405	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.G5110T:p.V1704F;LAMA3:NM_001127718:exon2:c.G283T:p.V95F;LAMA3:NM_001127717:exon39:c.G5110T:p.V1704F;LAMA3:NM_000227:exon2:c.G283T:p.V95F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.G283T:p.V95F;ENSG00000053747:ENST00000587184:exon2:c.G283T:p.V95F;ENSG00000053747:ENST00000399516:exon39:c.G5110T:p.V1704F;ENSG00000053747:ENST00000313654:exon39:c.G5110T:p.V1704F;	3.65782519736786E-4	0.16
18	21456370	T	A	18	23876406	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.T5111A:p.V1704D;LAMA3:NM_001127718:exon2:c.T284A:p.V95D;LAMA3:NM_001127717:exon39:c.T5111A:p.V1704D;LAMA3:NM_000227:exon2:c.T284A:p.V95D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.T284A:p.V95D;ENSG00000053747:ENST00000587184:exon2:c.T284A:p.V95D;ENSG00000053747:ENST00000399516:exon39:c.T5111A:p.V1704D;ENSG00000053747:ENST00000313654:exon39:c.T5111A:p.V1704D;	0.784203941239752	0.63
18	21456370	T	C	18	23876406	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.T5111C:p.V1704A;LAMA3:NM_001127718:exon2:c.T284C:p.V95A;LAMA3:NM_001127717:exon39:c.T5111C:p.V1704A;LAMA3:NM_000227:exon2:c.T284C:p.V95A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.T284C:p.V95A;ENSG00000053747:ENST00000587184:exon2:c.T284C:p.V95A;ENSG00000053747:ENST00000399516:exon39:c.T5111C:p.V1704A;ENSG00000053747:ENST00000313654:exon39:c.T5111C:p.V1704A;	0.979866016964707	0.764
18	21456370	T	G	18	23876406	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon39:c.T5111G:p.V1704G;LAMA3:NM_001127718:exon2:c.T284G:p.V95G;LAMA3:NM_001127717:exon39:c.T5111G:p.V1704G;LAMA3:NM_000227:exon2:c.T284G:p.V95G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.T284G:p.V95G;ENSG00000053747:ENST00000587184:exon2:c.T284G:p.V95G;ENSG00000053747:ENST00000399516:exon39:c.T5111G:p.V1704G;ENSG00000053747:ENST00000313654:exon39:c.T5111G:p.V1704G;	0.983082641634864	0.804
18	21456371	T	A	18	23876407	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon39:c.T5112A:p.V1704V;LAMA3:NM_001127718:exon2:c.T285A:p.V95V;LAMA3:NM_001127717:exon39:c.T5112A:p.V1704V;LAMA3:NM_000227:exon2:c.T285A:p.V95V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.T285A:p.V95V;ENSG00000053747:ENST00000587184:exon2:c.T285A:p.V95V;ENSG00000053747:ENST00000399516:exon39:c.T5112A:p.V1704V;ENSG00000053747:ENST00000313654:exon39:c.T5112A:p.V1704V;	5.5799449832085E-5	0.032
18	21456371	T	C	18	23876407	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon39:c.T5112C:p.V1704V;LAMA3:NM_001127718:exon2:c.T285C:p.V95V;LAMA3:NM_001127717:exon39:c.T5112C:p.V1704V;LAMA3:NM_000227:exon2:c.T285C:p.V95V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.T285C:p.V95V;ENSG00000053747:ENST00000587184:exon2:c.T285C:p.V95V;ENSG00000053747:ENST00000399516:exon39:c.T5112C:p.V1704V;ENSG00000053747:ENST00000313654:exon39:c.T5112C:p.V1704V;	7.17154692498468E-5	0.164
18	21456371	T	G	18	23876407	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon39:c.T5112G:p.V1704V;LAMA3:NM_001127718:exon2:c.T285G:p.V95V;LAMA3:NM_001127717:exon39:c.T5112G:p.V1704V;LAMA3:NM_000227:exon2:c.T285G:p.V95V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon2:c.T285G:p.V95V;ENSG00000053747:ENST00000587184:exon2:c.T285G:p.V95V;ENSG00000053747:ENST00000399516:exon39:c.T5112G:p.V1704V;ENSG00000053747:ENST00000313654:exon39:c.T5112G:p.V1704V;	1.45239606059295E-4	0.028
18	21456372	G	A	18	23876408	y	y	splicing	LAMA3(NM_001127717:exon39:c.5112+1G>A;NM_198129:exon39:c.5112+1G>A;NM_001127718:exon2:c.285+1G>A;NM_000227:exon2:c.285+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.5112+1G>A;ENST00000399516:exon39:c.5112+1G>A;ENST00000269217:exon2:c.285+1G>A;ENST00000587184:exon2:c.285+1G>A)	.	.	0.999989125585301	0.944
18	21456372	G	C	18	23876408	y	y	splicing	LAMA3(NM_001127717:exon39:c.5112+1G>C;NM_198129:exon39:c.5112+1G>C;NM_001127718:exon2:c.285+1G>C;NM_000227:exon2:c.285+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.5112+1G>C;ENST00000399516:exon39:c.5112+1G>C;ENST00000269217:exon2:c.285+1G>C;ENST00000587184:exon2:c.285+1G>C)	.	.	0.999989125585301	0.944
18	21456372	G	T	18	23876408	y	y	splicing	LAMA3(NM_001127717:exon39:c.5112+1G>T;NM_198129:exon39:c.5112+1G>T;NM_001127718:exon2:c.285+1G>T;NM_000227:exon2:c.285+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.5112+1G>T;ENST00000399516:exon39:c.5112+1G>T;ENST00000269217:exon2:c.285+1G>T;ENST00000587184:exon2:c.285+1G>T)	.	.	0.999989125585301	0.944
18	21456373	T	A	18	23876409	y	y	splicing	LAMA3(NM_001127717:exon39:c.5112+2T>A;NM_198129:exon39:c.5112+2T>A;NM_001127718:exon2:c.285+2T>A;NM_000227:exon2:c.285+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.5112+2T>A;ENST00000399516:exon39:c.5112+2T>A;ENST00000269217:exon2:c.285+2T>A;ENST00000587184:exon2:c.285+2T>A)	.	.	0.999984890425641	0.93
18	21456373	T	C	18	23876409	y	y	splicing	LAMA3(NM_001127717:exon39:c.5112+2T>C;NM_198129:exon39:c.5112+2T>C;NM_001127718:exon2:c.285+2T>C;NM_000227:exon2:c.285+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.5112+2T>C;ENST00000399516:exon39:c.5112+2T>C;ENST00000269217:exon2:c.285+2T>C;ENST00000587184:exon2:c.285+2T>C)	.	.	0.999960535693042	0.894
18	21456373	T	G	18	23876409	y	y	splicing	LAMA3(NM_001127717:exon39:c.5112+2T>G;NM_198129:exon39:c.5112+2T>G;NM_001127718:exon2:c.285+2T>G;NM_000227:exon2:c.285+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon39:c.5112+2T>G;ENST00000399516:exon39:c.5112+2T>G;ENST00000269217:exon2:c.285+2T>G;ENST00000587184:exon2:c.285+2T>G)	.	.	0.999984890425641	0.93
18	21456374	G	A	18	23876410	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00177864140066561	0.062
18	21456374	G	C	18	23876410	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998167768673169	0.774
18	21456374	G	T	18	23876410	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998702549780435	0.736
18	21456375	A	C	18	23876411	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999870514862195	0.92
18	21456375	A	G	18	23876411	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999904939996915	0.96
18	21456375	A	T	18	23876411	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999921773695039	0.93
18	21456376	G	A	18	23876412	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999957226228681	1.0
18	21456376	G	C	18	23876412	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999952695757983	0.998
18	21456376	G	T	18	23876412	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999933449459327	0.952
18	21456377	T	A	18	23876413	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999019054071031	0.82
18	21456377	T	C	18	23876413	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99619200769172	0.9
18	21456377	T	G	18	23876413	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996084997931831	0.85
18	21456378	A	C	18	23876414	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00598342048724982	0.044
18	21456378	A	G	18	23876414	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00642111445670372	0.044
18	21456378	A	T	18	23876414	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0107277941161095	0.078
18	21456379	A	C	18	23876415	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.93795079406985E-5	0.038
18	21456379	A	G	18	23876415	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.93795079406985E-5	0.018
18	21456379	A	T	18	23876415	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.59731734237535E-4	0.048
18	21461888	A	C	18	23881924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.04986581773229E-5	0.0
18	21461888	A	G	18	23881924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.67681547901832E-5	0.014
18	21461888	A	T	18	23881924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.77839619860943E-5	0.002
18	21461889	C	A	18	23881925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00410908547663211	0.06
18	21461889	C	G	18	23881925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999143846851438	0.978
18	21461889	C	T	18	23881925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.74071867555979E-5	0.002
18	21461890	C	A	18	23881926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00722117592557257	0.06
18	21461890	C	G	18	23881926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00296179561504433	0.05
18	21461890	C	T	18	23881926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.64002521588961E-4	0.002
18	21461891	T	A	18	23881927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999974526576462	0.976
18	21461891	T	C	18	23881927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.025891337144647	0.102
18	21461891	T	G	18	23881927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.854207489766499	0.748
18	21461892	G	A	18	23881928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00773721078229665	0.162
18	21461892	G	C	18	23881928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81159337484455E-4	0.018
18	21461892	G	T	18	23881928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20788343534646E-4	0.008
18	21461893	T	A	18	23881929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99206813023411	0.804
18	21461893	T	C	18	23881929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.2860607511733E-4	0.034
18	21461893	T	G	18	23881929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.871889401167635	0.766
18	21461894	C	A	18	23881930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0822015645468031	0.46
18	21461894	C	G	18	23881930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0348647549418126	0.444
18	21461894	C	T	18	23881930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.96544781169158E-4	0.132
18	21461895	C	A	18	23881931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0106803310186156	0.104
18	21461895	C	G	18	23881931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.179434379605034	0.174
18	21461895	C	T	18	23881931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.09935284443202E-4	0.028
18	21461896	C	A	18	23881932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.203018083615125	0.32
18	21461896	C	G	18	23881932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.029504354818166	0.234
18	21461896	C	T	18	23881932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.506088586805279	0.402
18	21461897	C	A	18	23881933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.897646907183474	0.55
18	21461897	C	G	18	23881933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999223876425196	0.75
18	21461897	C	T	18	23881933	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.95378159500329E-4	0.14
18	21461898	A	C	18	23881934	y	y	splicing	LAMA3(NM_001127717:exon40:c.5113-2A>C;NM_198129:exon40:c.5113-2A>C;NM_001127718:exon3:c.286-2A>C;NM_000227:exon3:c.286-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5113-2A>C;ENST00000399516:exon40:c.5113-2A>C;ENST00000269217:exon3:c.286-2A>C;ENST00000587184:exon3:c.286-2A>C)	.	.	0.999980479616962	0.89
18	21461898	A	G	18	23881934	y	y	splicing	LAMA3(NM_001127717:exon40:c.5113-2A>G;NM_198129:exon40:c.5113-2A>G;NM_001127718:exon3:c.286-2A>G;NM_000227:exon3:c.286-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5113-2A>G;ENST00000399516:exon40:c.5113-2A>G;ENST00000269217:exon3:c.286-2A>G;ENST00000587184:exon3:c.286-2A>G)	.	.	0.999980479616962	0.89
18	21461898	A	T	18	23881934	y	y	splicing	LAMA3(NM_001127717:exon40:c.5113-2A>T;NM_198129:exon40:c.5113-2A>T;NM_001127718:exon3:c.286-2A>T;NM_000227:exon3:c.286-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5113-2A>T;ENST00000399516:exon40:c.5113-2A>T;ENST00000269217:exon3:c.286-2A>T;ENST00000587184:exon3:c.286-2A>T)	.	.	0.999980479616962	0.89
18	21461899	G	A	18	23881935	y	y	splicing	LAMA3(NM_001127717:exon40:c.5113-1G>A;NM_198129:exon40:c.5113-1G>A;NM_001127718:exon3:c.286-1G>A;NM_000227:exon3:c.286-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5113-1G>A;ENST00000399516:exon40:c.5113-1G>A;ENST00000269217:exon3:c.286-1G>A;ENST00000587184:exon3:c.286-1G>A)	.	.	0.999965319730631	0.878
18	21461899	G	C	18	23881935	y	y	splicing	LAMA3(NM_001127717:exon40:c.5113-1G>C;NM_198129:exon40:c.5113-1G>C;NM_001127718:exon3:c.286-1G>C;NM_000227:exon3:c.286-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5113-1G>C;ENST00000399516:exon40:c.5113-1G>C;ENST00000269217:exon3:c.286-1G>C;ENST00000587184:exon3:c.286-1G>C)	.	.	0.999965319730631	0.878
18	21461899	G	T	18	23881935	y	y	splicing	LAMA3(NM_001127717:exon40:c.5113-1G>T;NM_198129:exon40:c.5113-1G>T;NM_001127718:exon3:c.286-1G>T;NM_000227:exon3:c.286-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5113-1G>T;ENST00000399516:exon40:c.5113-1G>T;ENST00000269217:exon3:c.286-1G>T;ENST00000587184:exon3:c.286-1G>T)	.	.	0.999965319730631	0.878
18	21461900	A	C	18	23881936	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5113C:p.N1705H;LAMA3:NM_001127718:exon3:c.A286C:p.N96H;LAMA3:NM_001127717:exon40:c.A5113C:p.N1705H;LAMA3:NM_000227:exon3:c.A286C:p.N96H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A286C:p.N96H;ENSG00000053747:ENST00000587184:exon3:c.A286C:p.N96H;ENSG00000053747:ENST00000399516:exon40:c.A5113C:p.N1705H;ENSG00000053747:ENST00000313654:exon40:c.A5113C:p.N1705H;	0.00300259230963508	0.292
18	21461900	A	G	18	23881936	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5113G:p.N1705D;LAMA3:NM_001127718:exon3:c.A286G:p.N96D;LAMA3:NM_001127717:exon40:c.A5113G:p.N1705D;LAMA3:NM_000227:exon3:c.A286G:p.N96D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A286G:p.N96D;ENSG00000053747:ENST00000587184:exon3:c.A286G:p.N96D;ENSG00000053747:ENST00000399516:exon40:c.A5113G:p.N1705D;ENSG00000053747:ENST00000313654:exon40:c.A5113G:p.N1705D;	3.07005950233054E-4	0.026
18	21461900	A	T	18	23881936	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5113T:p.N1705Y;LAMA3:NM_001127718:exon3:c.A286T:p.N96Y;LAMA3:NM_001127717:exon40:c.A5113T:p.N1705Y;LAMA3:NM_000227:exon3:c.A286T:p.N96Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A286T:p.N96Y;ENSG00000053747:ENST00000587184:exon3:c.A286T:p.N96Y;ENSG00000053747:ENST00000399516:exon40:c.A5113T:p.N1705Y;ENSG00000053747:ENST00000313654:exon40:c.A5113T:p.N1705Y;	0.00493832460124646	0.26
18	21461901	A	C	18	23881937	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5114C:p.N1705T;LAMA3:NM_001127718:exon3:c.A287C:p.N96T;LAMA3:NM_001127717:exon40:c.A5114C:p.N1705T;LAMA3:NM_000227:exon3:c.A287C:p.N96T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A287C:p.N96T;ENSG00000053747:ENST00000587184:exon3:c.A287C:p.N96T;ENSG00000053747:ENST00000399516:exon40:c.A5114C:p.N1705T;ENSG00000053747:ENST00000313654:exon40:c.A5114C:p.N1705T;	0.858285218332458	0.832
18	21461901	A	G	18	23881937	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5114G:p.N1705S;LAMA3:NM_001127718:exon3:c.A287G:p.N96S;LAMA3:NM_001127717:exon40:c.A5114G:p.N1705S;LAMA3:NM_000227:exon3:c.A287G:p.N96S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A287G:p.N96S;ENSG00000053747:ENST00000587184:exon3:c.A287G:p.N96S;ENSG00000053747:ENST00000399516:exon40:c.A5114G:p.N1705S;ENSG00000053747:ENST00000313654:exon40:c.A5114G:p.N1705S;	0.861781473391676	0.77
18	21461901	A	T	18	23881937	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5114T:p.N1705I;LAMA3:NM_001127718:exon3:c.A287T:p.N96I;LAMA3:NM_001127717:exon40:c.A5114T:p.N1705I;LAMA3:NM_000227:exon3:c.A287T:p.N96I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A287T:p.N96I;ENSG00000053747:ENST00000587184:exon3:c.A287T:p.N96I;ENSG00000053747:ENST00000399516:exon40:c.A5114T:p.N1705I;ENSG00000053747:ENST00000313654:exon40:c.A5114T:p.N1705I;	0.765674107388731	0.77
18	21462007	C	A	18	23882043	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.C5220A:p.N1740K;LAMA3:NM_001127718:exon3:c.C393A:p.N131K;LAMA3:NM_001127717:exon40:c.C5220A:p.N1740K;LAMA3:NM_000227:exon3:c.C393A:p.N131K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.C393A:p.N131K;ENSG00000053747:ENST00000587184:exon3:c.C393A:p.N131K;ENSG00000053747:ENST00000399516:exon40:c.C5220A:p.N1740K;ENSG00000053747:ENST00000313654:exon40:c.C5220A:p.N1740K;	0.899201508031275	0.772
18	21462007	C	G	18	23882043	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.C5220G:p.N1740K;LAMA3:NM_001127718:exon3:c.C393G:p.N131K;LAMA3:NM_001127717:exon40:c.C5220G:p.N1740K;LAMA3:NM_000227:exon3:c.C393G:p.N131K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.C393G:p.N131K;ENSG00000053747:ENST00000587184:exon3:c.C393G:p.N131K;ENSG00000053747:ENST00000399516:exon40:c.C5220G:p.N1740K;ENSG00000053747:ENST00000313654:exon40:c.C5220G:p.N1740K;	0.900431123863925	0.704
18	21462007	C	T	18	23882043	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon40:c.C5220T:p.N1740N;LAMA3:NM_001127718:exon3:c.C393T:p.N131N;LAMA3:NM_001127717:exon40:c.C5220T:p.N1740N;LAMA3:NM_000227:exon3:c.C393T:p.N131N;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.C393T:p.N131N;ENSG00000053747:ENST00000587184:exon3:c.C393T:p.N131N;ENSG00000053747:ENST00000399516:exon40:c.C5220T:p.N1740N;ENSG00000053747:ENST00000313654:exon40:c.C5220T:p.N1740N;	0.999089286343495	0.976
18	21462008	A	C	18	23882044	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5221C:p.S1741R;LAMA3:NM_001127718:exon3:c.A394C:p.S132R;LAMA3:NM_001127717:exon40:c.A5221C:p.S1741R;LAMA3:NM_000227:exon3:c.A394C:p.S132R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A394C:p.S132R;ENSG00000053747:ENST00000587184:exon3:c.A394C:p.S132R;ENSG00000053747:ENST00000399516:exon40:c.A5221C:p.S1741R;ENSG00000053747:ENST00000313654:exon40:c.A5221C:p.S1741R;	0.999812002496521	0.964
18	21462008	A	G	18	23882044	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5221G:p.S1741G;LAMA3:NM_001127718:exon3:c.A394G:p.S132G;LAMA3:NM_001127717:exon40:c.A5221G:p.S1741G;LAMA3:NM_000227:exon3:c.A394G:p.S132G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A394G:p.S132G;ENSG00000053747:ENST00000587184:exon3:c.A394G:p.S132G;ENSG00000053747:ENST00000399516:exon40:c.A5221G:p.S1741G;ENSG00000053747:ENST00000313654:exon40:c.A5221G:p.S1741G;	0.99988074138142	0.988
18	21462008	A	T	18	23882044	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.A5221T:p.S1741C;LAMA3:NM_001127718:exon3:c.A394T:p.S132C;LAMA3:NM_001127717:exon40:c.A5221T:p.S1741C;LAMA3:NM_000227:exon3:c.A394T:p.S132C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.A394T:p.S132C;ENSG00000053747:ENST00000587184:exon3:c.A394T:p.S132C;ENSG00000053747:ENST00000399516:exon40:c.A5221T:p.S1741C;ENSG00000053747:ENST00000313654:exon40:c.A5221T:p.S1741C;	0.999889650951	1.0
18	21462009	G	A	18	23882045	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.G5222A:p.S1741N;LAMA3:NM_001127718:exon3:c.G395A:p.S132N;LAMA3:NM_001127717:exon40:c.G5222A:p.S1741N;LAMA3:NM_000227:exon3:c.G395A:p.S132N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.G395A:p.S132N;ENSG00000053747:ENST00000587184:exon3:c.G395A:p.S132N;ENSG00000053747:ENST00000399516:exon40:c.G5222A:p.S1741N;ENSG00000053747:ENST00000313654:exon40:c.G5222A:p.S1741N;	0.999941221772787	0.998
18	21462009	G	C	18	23882045	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.G5222C:p.S1741T;LAMA3:NM_001127718:exon3:c.G395C:p.S132T;LAMA3:NM_001127717:exon40:c.G5222C:p.S1741T;LAMA3:NM_000227:exon3:c.G395C:p.S132T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.G395C:p.S132T;ENSG00000053747:ENST00000587184:exon3:c.G395C:p.S132T;ENSG00000053747:ENST00000399516:exon40:c.G5222C:p.S1741T;ENSG00000053747:ENST00000313654:exon40:c.G5222C:p.S1741T;	0.999995721728294	0.998
18	21462009	G	T	18	23882045	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon40:c.G5222T:p.S1741I;LAMA3:NM_001127718:exon3:c.G395T:p.S132I;LAMA3:NM_001127717:exon40:c.G5222T:p.S1741I;LAMA3:NM_000227:exon3:c.G395T:p.S132I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon3:c.G395T:p.S132I;ENSG00000053747:ENST00000587184:exon3:c.G395T:p.S132I;ENSG00000053747:ENST00000399516:exon40:c.G5222T:p.S1741I;ENSG00000053747:ENST00000313654:exon40:c.G5222T:p.S1741I;	0.999986848906447	0.996
18	21462010	G	A	18	23882046	y	y	splicing	LAMA3(NM_001127717:exon40:c.5222+1G>A;NM_198129:exon40:c.5222+1G>A;NM_001127718:exon3:c.395+1G>A;NM_000227:exon3:c.395+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5222+1G>A;ENST00000399516:exon40:c.5222+1G>A;ENST00000269217:exon3:c.395+1G>A;ENST00000587184:exon3:c.395+1G>A)	.	.	0.999981760802075	0.938
18	21462010	G	C	18	23882046	y	y	splicing	LAMA3(NM_001127717:exon40:c.5222+1G>C;NM_198129:exon40:c.5222+1G>C;NM_001127718:exon3:c.395+1G>C;NM_000227:exon3:c.395+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5222+1G>C;ENST00000399516:exon40:c.5222+1G>C;ENST00000269217:exon3:c.395+1G>C;ENST00000587184:exon3:c.395+1G>C)	.	.	0.999981760802075	0.938
18	21462010	G	T	18	23882046	y	y	splicing	LAMA3(NM_001127717:exon40:c.5222+1G>T;NM_198129:exon40:c.5222+1G>T;NM_001127718:exon3:c.395+1G>T;NM_000227:exon3:c.395+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5222+1G>T;ENST00000399516:exon40:c.5222+1G>T;ENST00000269217:exon3:c.395+1G>T;ENST00000587184:exon3:c.395+1G>T)	.	.	0.999981760802075	0.938
18	21462011	T	A	18	23882047	y	y	splicing	LAMA3(NM_001127717:exon40:c.5222+2T>A;NM_198129:exon40:c.5222+2T>A;NM_001127718:exon3:c.395+2T>A;NM_000227:exon3:c.395+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5222+2T>A;ENST00000399516:exon40:c.5222+2T>A;ENST00000269217:exon3:c.395+2T>A;ENST00000587184:exon3:c.395+2T>A)	.	.	0.999989917668626	0.928
18	21462011	T	C	18	23882047	y	y	splicing	LAMA3(NM_001127717:exon40:c.5222+2T>C;NM_198129:exon40:c.5222+2T>C;NM_001127718:exon3:c.395+2T>C;NM_000227:exon3:c.395+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5222+2T>C;ENST00000399516:exon40:c.5222+2T>C;ENST00000269217:exon3:c.395+2T>C;ENST00000587184:exon3:c.395+2T>C)	.	.	0.993179459523591	0.632
18	21462011	T	G	18	23882047	y	y	splicing	LAMA3(NM_001127717:exon40:c.5222+2T>G;NM_198129:exon40:c.5222+2T>G;NM_001127718:exon3:c.395+2T>G;NM_000227:exon3:c.395+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon40:c.5222+2T>G;ENST00000399516:exon40:c.5222+2T>G;ENST00000269217:exon3:c.395+2T>G;ENST00000587184:exon3:c.395+2T>G)	.	.	0.999989917668626	0.928
18	21462012	A	C	18	23882048	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999898579256222	0.976
18	21462012	A	G	18	23882048	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999226824791602	0.97
18	21462012	A	T	18	23882048	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999965773011551	0.996
18	21462013	C	A	18	23882049	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.84154836021396E-4	0.07
18	21462013	C	G	18	23882049	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0230730883337397	0.204
18	21462013	C	T	18	23882049	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.128547791538139	0.208
18	21462014	C	A	18	23882050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.9775757902868E-5	0.004
18	21462014	C	G	18	23882050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.96078771297662E-5	0.034
18	21462014	C	T	18	23882050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.15795583967795E-4	0.002
18	21462015	G	A	18	23882051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.36840784502237E-4	0.008
18	21462015	G	C	18	23882051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.39828491481963E-4	0.006
18	21462015	G	T	18	23882051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.91315735945794E-4	0.036
18	21462016	T	A	18	23882052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.90043401634056E-5	0.018
18	21462016	T	C	18	23882052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.70554877906658E-5	0.006
18	21462016	T	G	18	23882052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.37726197407937E-5	0.004
18	21462017	A	C	18	23882053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.79310572903282E-5	0.0
18	21462017	A	G	18	23882053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.28509288876342E-5	0.0
18	21462017	A	T	18	23882053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.03765417231877E-5	0.0
18	21464725	T	A	18	23884761	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.125140419462298	0.426
18	21464725	T	C	18	23884761	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00783560130736066	0.124
18	21464725	T	G	18	23884761	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0328839441819498	0.372
18	21464726	C	A	18	23884762	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.10823246432851E-5	0.084
18	21464726	C	G	18	23884762	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.31371810777134E-5	0.032
18	21464726	C	T	18	23884762	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.2816856531259E-4	0.218
18	21464727	T	A	18	23884763	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0311860030048749	0.184
18	21464727	T	C	18	23884763	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.01742531006997E-4	0.052
18	21464727	T	G	18	23884763	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00179604542544228	0.154
18	21464728	T	A	18	23884764	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00668313044689639	0.184
18	21464728	T	C	18	23884764	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.32240550822697E-4	0.028
18	21464728	T	G	18	23884764	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00476483871742132	0.084
18	21464729	C	A	18	23884765	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00393222898954663	0.136
18	21464729	C	G	18	23884765	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.48478464518567E-4	0.066
18	21464729	C	T	18	23884765	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.45844728183009E-5	0.004
18	21464730	T	A	18	23884766	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00254522632296655	0.134
18	21464730	T	C	18	23884766	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.08029405349754E-4	0.004
18	21464730	T	G	18	23884766	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00544143436683627	0.054
18	21464731	T	A	18	23884767	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.802386323512568	0.496
18	21464731	T	C	18	23884767	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0081943094114275	0.136
18	21464731	T	G	18	23884767	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.588329673145787	0.5
18	21464732	T	A	18	23884768	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0995107872709097	0.31
18	21464732	T	C	18	23884768	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00146686962531908	0.062
18	21464732	T	G	18	23884768	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0803375564354507	0.274
18	21464733	C	A	18	23884769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.38668934989555E-5	0.004
18	21464733	C	G	18	23884769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.56373721518149E-5	0.0
18	21464733	C	T	18	23884769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.38668934989555E-5	0.004
18	21464734	A	C	18	23884770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.33453311820598E-5	0.05
18	21464734	A	G	18	23884770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0555845495518918	0.202
18	21464734	A	T	18	23884770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.87876275484664E-5	0.0
18	21464735	A	C	18	23884771	y	y	splicing	LAMA3(NM_001127717:exon41:c.5223-2A>C;NM_198129:exon41:c.5223-2A>C;NM_001127718:exon4:c.396-2A>C;NM_000227:exon4:c.396-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5223-2A>C;ENST00000399516:exon41:c.5223-2A>C;ENST00000269217:exon4:c.396-2A>C;ENST00000587184:exon4:c.396-2A>C)	.	.	0.99994568797423	0.926
18	21464735	A	G	18	23884771	y	y	splicing	LAMA3(NM_001127717:exon41:c.5223-2A>G;NM_198129:exon41:c.5223-2A>G;NM_001127718:exon4:c.396-2A>G;NM_000227:exon4:c.396-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5223-2A>G;ENST00000399516:exon41:c.5223-2A>G;ENST00000269217:exon4:c.396-2A>G;ENST00000587184:exon4:c.396-2A>G)	.	.	0.99994568797423	0.926
18	21464735	A	T	18	23884771	y	y	splicing	LAMA3(NM_001127717:exon41:c.5223-2A>T;NM_198129:exon41:c.5223-2A>T;NM_001127718:exon4:c.396-2A>T;NM_000227:exon4:c.396-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5223-2A>T;ENST00000399516:exon41:c.5223-2A>T;ENST00000269217:exon4:c.396-2A>T;ENST00000587184:exon4:c.396-2A>T)	.	.	0.999978952611685	0.926
18	21464736	G	A	18	23884772	y	y	splicing	LAMA3(NM_001127717:exon41:c.5223-1G>A;NM_198129:exon41:c.5223-1G>A;NM_001127718:exon4:c.396-1G>A;NM_000227:exon4:c.396-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5223-1G>A;ENST00000399516:exon41:c.5223-1G>A;ENST00000269217:exon4:c.396-1G>A;ENST00000587184:exon4:c.396-1G>A)	.	.	0.999982737877662	0.938
18	21464736	G	C	18	23884772	y	y	splicing	LAMA3(NM_001127717:exon41:c.5223-1G>C;NM_198129:exon41:c.5223-1G>C;NM_001127718:exon4:c.396-1G>C;NM_000227:exon4:c.396-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5223-1G>C;ENST00000399516:exon41:c.5223-1G>C;ENST00000269217:exon4:c.396-1G>C;ENST00000587184:exon4:c.396-1G>C)	.	.	0.999975938198618	0.932
18	21464736	G	T	18	23884772	y	y	splicing	LAMA3(NM_001127717:exon41:c.5223-1G>T;NM_198129:exon41:c.5223-1G>T;NM_001127718:exon4:c.396-1G>T;NM_000227:exon4:c.396-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5223-1G>T;ENST00000399516:exon41:c.5223-1G>T;ENST00000269217:exon4:c.396-1G>T;ENST00000587184:exon4:c.396-1G>T)	.	.	0.999982737877662	0.932
18	21464737	C	A	18	23884773	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.C5223A:p.S1741R;LAMA3:NM_001127718:exon4:c.C396A:p.S132R;LAMA3:NM_001127717:exon41:c.C5223A:p.S1741R;LAMA3:NM_000227:exon4:c.C396A:p.S132R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.C396A:p.S132R;ENSG00000053747:ENST00000587184:exon4:c.C396A:p.S132R;ENSG00000053747:ENST00000399516:exon41:c.C5223A:p.S1741R;ENSG00000053747:ENST00000313654:exon41:c.C5223A:p.S1741R;	4.87695029089025E-6	0.054
18	21464737	C	G	18	23884773	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.C5223G:p.S1741R;LAMA3:NM_001127718:exon4:c.C396G:p.S132R;LAMA3:NM_001127717:exon41:c.C5223G:p.S1741R;LAMA3:NM_000227:exon4:c.C396G:p.S132R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.C396G:p.S132R;ENSG00000053747:ENST00000587184:exon4:c.C396G:p.S132R;ENSG00000053747:ENST00000399516:exon41:c.C5223G:p.S1741R;ENSG00000053747:ENST00000313654:exon41:c.C5223G:p.S1741R;	1.40449941071633E-5	0.106
18	21464737	C	T	18	23884773	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon41:c.C5223T:p.S1741S;LAMA3:NM_001127718:exon4:c.C396T:p.S132S;LAMA3:NM_001127717:exon41:c.C5223T:p.S1741S;LAMA3:NM_000227:exon4:c.C396T:p.S132S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.C396T:p.S132S;ENSG00000053747:ENST00000587184:exon4:c.C396T:p.S132S;ENSG00000053747:ENST00000399516:exon41:c.C5223T:p.S1741S;ENSG00000053747:ENST00000313654:exon41:c.C5223T:p.S1741S;	3.45896167211839E-5	0.03
18	21464738	T	A	18	23884774	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.T5224A:p.F1742I;LAMA3:NM_001127718:exon4:c.T397A:p.F133I;LAMA3:NM_001127717:exon41:c.T5224A:p.F1742I;LAMA3:NM_000227:exon4:c.T397A:p.F133I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.T397A:p.F133I;ENSG00000053747:ENST00000587184:exon4:c.T397A:p.F133I;ENSG00000053747:ENST00000399516:exon41:c.T5224A:p.F1742I;ENSG00000053747:ENST00000313654:exon41:c.T5224A:p.F1742I;	0.527437630857618	0.626
18	21464738	T	C	18	23884774	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.T5224C:p.F1742L;LAMA3:NM_001127718:exon4:c.T397C:p.F133L;LAMA3:NM_001127717:exon41:c.T5224C:p.F1742L;LAMA3:NM_000227:exon4:c.T397C:p.F133L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.T397C:p.F133L;ENSG00000053747:ENST00000587184:exon4:c.T397C:p.F133L;ENSG00000053747:ENST00000399516:exon41:c.T5224C:p.F1742L;ENSG00000053747:ENST00000313654:exon41:c.T5224C:p.F1742L;	0.592639895839003	0.626
18	21464738	T	G	18	23884774	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.T5224G:p.F1742V;LAMA3:NM_001127718:exon4:c.T397G:p.F133V;LAMA3:NM_001127717:exon41:c.T5224G:p.F1742V;LAMA3:NM_000227:exon4:c.T397G:p.F133V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.T397G:p.F133V;ENSG00000053747:ENST00000587184:exon4:c.T397G:p.F133V;ENSG00000053747:ENST00000399516:exon41:c.T5224G:p.F1742V;ENSG00000053747:ENST00000313654:exon41:c.T5224G:p.F1742V;	0.522517678565205	0.624
18	21464815	A	C	18	23884851	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.A5301C:p.E1767D;LAMA3:NM_001127718:exon4:c.A474C:p.E158D;LAMA3:NM_001127717:exon41:c.A5301C:p.E1767D;LAMA3:NM_000227:exon4:c.A474C:p.E158D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.A474C:p.E158D;ENSG00000053747:ENST00000587184:exon4:c.A474C:p.E158D;ENSG00000053747:ENST00000399516:exon41:c.A5301C:p.E1767D;ENSG00000053747:ENST00000313654:exon41:c.A5301C:p.E1767D;	6.59142049656756E-5	0.072
18	21464815	A	G	18	23884851	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon41:c.A5301G:p.E1767E;LAMA3:NM_001127718:exon4:c.A474G:p.E158E;LAMA3:NM_001127717:exon41:c.A5301G:p.E1767E;LAMA3:NM_000227:exon4:c.A474G:p.E158E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.A474G:p.E158E;ENSG00000053747:ENST00000587184:exon4:c.A474G:p.E158E;ENSG00000053747:ENST00000399516:exon41:c.A5301G:p.E1767E;ENSG00000053747:ENST00000313654:exon41:c.A5301G:p.E1767E;	5.93290673467696E-5	0.002
18	21464815	A	T	18	23884851	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.A5301T:p.E1767D;LAMA3:NM_001127718:exon4:c.A474T:p.E158D;LAMA3:NM_001127717:exon41:c.A5301T:p.E1767D;LAMA3:NM_000227:exon4:c.A474T:p.E158D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.A474T:p.E158D;ENSG00000053747:ENST00000587184:exon4:c.A474T:p.E158D;ENSG00000053747:ENST00000399516:exon41:c.A5301T:p.E1767D;ENSG00000053747:ENST00000313654:exon41:c.A5301T:p.E1767D;	0.00187382173672654	0.2
18	21464816	A	C	18	23884852	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon41:c.A5302C:p.R1768R;LAMA3:NM_001127718:exon4:c.A475C:p.R159R;LAMA3:NM_001127717:exon41:c.A5302C:p.R1768R;LAMA3:NM_000227:exon4:c.A475C:p.R159R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.A475C:p.R159R;ENSG00000053747:ENST00000587184:exon4:c.A475C:p.R159R;ENSG00000053747:ENST00000399516:exon41:c.A5302C:p.R1768R;ENSG00000053747:ENST00000313654:exon41:c.A5302C:p.R1768R;	0.137212100826945	0.422
18	21464816	A	G	18	23884852	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.A5302G:p.R1768G;LAMA3:NM_001127718:exon4:c.A475G:p.R159G;LAMA3:NM_001127717:exon41:c.A5302G:p.R1768G;LAMA3:NM_000227:exon4:c.A475G:p.R159G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.A475G:p.R159G;ENSG00000053747:ENST00000587184:exon4:c.A475G:p.R159G;ENSG00000053747:ENST00000399516:exon41:c.A5302G:p.R1768G;ENSG00000053747:ENST00000313654:exon41:c.A5302G:p.R1768G;	0.996064276791635	0.936
18	21464816	A	T	18	23884852	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.A5302T:p.R1768W;LAMA3:NM_001127718:exon4:c.A475T:p.R159W;LAMA3:NM_001127717:exon41:c.A5302T:p.R1768W;LAMA3:NM_000227:exon4:c.A475T:p.R159W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.A475T:p.R159W;ENSG00000053747:ENST00000587184:exon4:c.A475T:p.R159W;ENSG00000053747:ENST00000399516:exon41:c.A5302T:p.R1768W;ENSG00000053747:ENST00000313654:exon41:c.A5302T:p.R1768W;	0.990078996233321	0.68
18	21464817	G	A	18	23884853	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.G5303A:p.R1768K;LAMA3:NM_001127718:exon4:c.G476A:p.R159K;LAMA3:NM_001127717:exon41:c.G5303A:p.R1768K;LAMA3:NM_000227:exon4:c.G476A:p.R159K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.G476A:p.R159K;ENSG00000053747:ENST00000587184:exon4:c.G476A:p.R159K;ENSG00000053747:ENST00000399516:exon41:c.G5303A:p.R1768K;ENSG00000053747:ENST00000313654:exon41:c.G5303A:p.R1768K;	0.999972042417535	0.978
18	21464817	G	C	18	23884853	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.G5303C:p.R1768T;LAMA3:NM_001127718:exon4:c.G476C:p.R159T;LAMA3:NM_001127717:exon41:c.G5303C:p.R1768T;LAMA3:NM_000227:exon4:c.G476C:p.R159T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.G476C:p.R159T;ENSG00000053747:ENST00000587184:exon4:c.G476C:p.R159T;ENSG00000053747:ENST00000399516:exon41:c.G5303C:p.R1768T;ENSG00000053747:ENST00000313654:exon41:c.G5303C:p.R1768T;	0.99996439734634	0.938
18	21464817	G	T	18	23884853	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon41:c.G5303T:p.R1768M;LAMA3:NM_001127718:exon4:c.G476T:p.R159M;LAMA3:NM_001127717:exon41:c.G5303T:p.R1768M;LAMA3:NM_000227:exon4:c.G476T:p.R159M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon4:c.G476T:p.R159M;ENSG00000053747:ENST00000587184:exon4:c.G476T:p.R159M;ENSG00000053747:ENST00000399516:exon41:c.G5303T:p.R1768M;ENSG00000053747:ENST00000313654:exon41:c.G5303T:p.R1768M;	0.999979273970222	0.976
18	21464818	G	A	18	23884854	y	y	splicing	LAMA3(NM_001127717:exon41:c.5303+1G>A;NM_198129:exon41:c.5303+1G>A;NM_001127718:exon4:c.476+1G>A;NM_000227:exon4:c.476+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5303+1G>A;ENST00000399516:exon41:c.5303+1G>A;ENST00000269217:exon4:c.476+1G>A;ENST00000587184:exon4:c.476+1G>A;ENST00000586751:exon1:c.81+1G>A)	.	.	0.999915710762489	0.954
18	21464818	G	C	18	23884854	y	y	splicing	LAMA3(NM_001127717:exon41:c.5303+1G>C;NM_198129:exon41:c.5303+1G>C;NM_001127718:exon4:c.476+1G>C;NM_000227:exon4:c.476+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5303+1G>C;ENST00000399516:exon41:c.5303+1G>C;ENST00000269217:exon4:c.476+1G>C;ENST00000587184:exon4:c.476+1G>C;ENST00000586751:exon1:c.81+1G>C)	.	.	0.999916487880886	0.952
18	21464818	G	T	18	23884854	y	y	splicing	LAMA3(NM_001127717:exon41:c.5303+1G>T;NM_198129:exon41:c.5303+1G>T;NM_001127718:exon4:c.476+1G>T;NM_000227:exon4:c.476+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5303+1G>T;ENST00000399516:exon41:c.5303+1G>T;ENST00000269217:exon4:c.476+1G>T;ENST00000587184:exon4:c.476+1G>T;ENST00000586751:exon1:c.81+1G>T)	.	.	0.999916487880886	0.954
18	21464819	T	A	18	23884855	y	y	splicing	LAMA3(NM_001127717:exon41:c.5303+2T>A;NM_198129:exon41:c.5303+2T>A;NM_001127718:exon4:c.476+2T>A;NM_000227:exon4:c.476+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5303+2T>A;ENST00000399516:exon41:c.5303+2T>A;ENST00000269217:exon4:c.476+2T>A;ENST00000587184:exon4:c.476+2T>A;ENST00000586751:exon1:c.81+2T>A)	.	.	0.999966514958823	0.936
18	21464819	T	C	18	23884855	y	y	splicing	LAMA3(NM_001127717:exon41:c.5303+2T>C;NM_198129:exon41:c.5303+2T>C;NM_001127718:exon4:c.476+2T>C;NM_000227:exon4:c.476+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5303+2T>C;ENST00000399516:exon41:c.5303+2T>C;ENST00000269217:exon4:c.476+2T>C;ENST00000587184:exon4:c.476+2T>C;ENST00000586751:exon1:c.81+2T>C)	.	.	0.978763800270509	0.588
18	21464819	T	G	18	23884855	y	y	splicing	LAMA3(NM_001127717:exon41:c.5303+2T>G;NM_198129:exon41:c.5303+2T>G;NM_001127718:exon4:c.476+2T>G;NM_000227:exon4:c.476+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon41:c.5303+2T>G;ENST00000399516:exon41:c.5303+2T>G;ENST00000269217:exon4:c.476+2T>G;ENST00000587184:exon4:c.476+2T>G;ENST00000586751:exon1:c.81+2T>G)	.	.	0.999978156327223	0.932
18	21464820	A	C	18	23884856	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.389613051367971	0.344
18	21464820	A	G	18	23884856	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.70617034720784E-4	0.022
18	21464820	A	T	18	23884856	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.258118960748634	0.326
18	21464821	A	C	18	23884857	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.047969136942518	0.39
18	21464821	A	G	18	23884857	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.118940852483077	0.37
18	21464821	A	T	18	23884857	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.112979092523858	0.348
18	21464822	G	A	18	23884858	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.6657726974854	0.388
18	21464822	G	C	18	23884858	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.299167753053236	0.324
18	21464822	G	T	18	23884858	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.441144695893205	0.494
18	21464823	G	A	18	23884859	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.50247282455175E-4	0.004
18	21464823	G	C	18	23884859	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.64626267742505E-4	0.092
18	21464823	G	T	18	23884859	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.12089377089649E-5	0.004
18	21464824	T	A	18	23884860	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81159136363845E-5	0.0
18	21464824	T	C	18	23884860	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81159136363845E-5	0.0
18	21464824	T	G	18	23884860	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81159136363845E-5	0.0
18	21464825	G	A	18	23884861	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.51232686611577E-5	0.0
18	21464825	G	C	18	23884861	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.3272797208074E-5	0.0
18	21464825	G	T	18	23884861	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.36106780005268E-5	0.0
18	21469963	T	A	18	23889999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.017764009983962	0.288
18	21469963	T	C	18	23889999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.07980003389137E-4	0.0
18	21469963	T	G	18	23889999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.979674382335098	0.9
18	21469964	A	C	18	23890000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17481048836609E-4	0.0
18	21469964	A	G	18	23890000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.48224505032739E-5	0.004
18	21469964	A	T	18	23890000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.25186296018846E-4	0.104
18	21469965	T	A	18	23890001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.851419064506908	0.57
18	21469965	T	C	18	23890001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.69450611714417E-4	0.008
18	21469965	T	G	18	23890001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999908404649824	0.974
18	21469966	T	A	18	23890002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.166638263210743	0.398
18	21469966	T	C	18	23890002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.60535193042387E-4	0.01
18	21469966	T	G	18	23890002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0925904747400098	0.418
18	21469967	T	A	18	23890003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0549718863301671	0.204
18	21469967	T	C	18	23890003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.52511677950849E-5	0.0
18	21469967	T	G	18	23890003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00313363680647777	0.224
18	21469968	T	A	18	23890004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995042979658684	0.96
18	21469968	T	C	18	23890004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.95430545542601E-5	0.0
18	21469968	T	G	18	23890004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00191680109999184	0.054
18	21469969	G	A	18	23890005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.61072974131318E-4	0.002
18	21469969	G	C	18	23890005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.60154189103812E-5	0.004
18	21469969	G	T	18	23890005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.92428089836104E-5	0.002
18	21469970	T	A	18	23890006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999293130427502	0.908
18	21469970	T	C	18	23890006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.54807155318214E-4	0.004
18	21469970	T	G	18	23890006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.252233514382906	0.462
18	21469971	G	A	18	23890007	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.4572483093666E-4	0.016
18	21469971	G	C	18	23890007	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.56684012111396E-5	0.014
18	21469971	G	T	18	23890007	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.72422265588276E-5	0.008
18	21469972	T	A	18	23890008	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00807428831307487	0.272
18	21469972	T	C	18	23890008	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.83469016838488E-5	0.01
18	21469972	T	G	18	23890008	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997231202849644	0.7
18	21469973	A	C	18	23890009	y	y	splicing	LAMA3(NM_001127717:exon42:c.5304-2A>C;NM_198129:exon42:c.5304-2A>C;NM_001127718:exon5:c.477-2A>C;NM_000227:exon5:c.477-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5304-2A>C;ENST00000399516:exon42:c.5304-2A>C;ENST00000269217:exon5:c.477-2A>C;ENST00000587184:exon5:c.477-2A>C;ENST00000586751:exon2:c.82-2A>C)	.	.	0.999988247793601	0.922
18	21469973	A	G	18	23890009	y	y	splicing	LAMA3(NM_001127717:exon42:c.5304-2A>G;NM_198129:exon42:c.5304-2A>G;NM_001127718:exon5:c.477-2A>G;NM_000227:exon5:c.477-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5304-2A>G;ENST00000399516:exon42:c.5304-2A>G;ENST00000269217:exon5:c.477-2A>G;ENST00000587184:exon5:c.477-2A>G;ENST00000586751:exon2:c.82-2A>G)	.	.	0.999988247793601	0.926
18	21469973	A	T	18	23890009	y	y	splicing	LAMA3(NM_001127717:exon42:c.5304-2A>T;NM_198129:exon42:c.5304-2A>T;NM_001127718:exon5:c.477-2A>T;NM_000227:exon5:c.477-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5304-2A>T;ENST00000399516:exon42:c.5304-2A>T;ENST00000269217:exon5:c.477-2A>T;ENST00000587184:exon5:c.477-2A>T;ENST00000586751:exon2:c.82-2A>T)	.	.	0.999988247793601	0.926
18	21469974	G	A	18	23890010	y	y	splicing	LAMA3(NM_001127717:exon42:c.5304-1G>A;NM_198129:exon42:c.5304-1G>A;NM_001127718:exon5:c.477-1G>A;NM_000227:exon5:c.477-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5304-1G>A;ENST00000399516:exon42:c.5304-1G>A;ENST00000269217:exon5:c.477-1G>A;ENST00000587184:exon5:c.477-1G>A;ENST00000586751:exon2:c.82-1G>A)	.	.	0.999985532734767	0.936
18	21469974	G	C	18	23890010	y	y	splicing	LAMA3(NM_001127717:exon42:c.5304-1G>C;NM_198129:exon42:c.5304-1G>C;NM_001127718:exon5:c.477-1G>C;NM_000227:exon5:c.477-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5304-1G>C;ENST00000399516:exon42:c.5304-1G>C;ENST00000269217:exon5:c.477-1G>C;ENST00000587184:exon5:c.477-1G>C;ENST00000586751:exon2:c.82-1G>C)	.	.	0.999985532734767	0.936
18	21469974	G	T	18	23890010	y	y	splicing	LAMA3(NM_001127717:exon42:c.5304-1G>T;NM_198129:exon42:c.5304-1G>T;NM_001127718:exon5:c.477-1G>T;NM_000227:exon5:c.477-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5304-1G>T;ENST00000399516:exon42:c.5304-1G>T;ENST00000269217:exon5:c.477-1G>T;ENST00000587184:exon5:c.477-1G>T;ENST00000586751:exon2:c.82-1G>T)	.	.	0.999985532734767	0.936
18	21469975	G	A	18	23890011	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon42:c.G5304A:p.R1768R;LAMA3:NM_001127718:exon5:c.G477A:p.R159R;LAMA3:NM_001127717:exon42:c.G5304A:p.R1768R;LAMA3:NM_000227:exon5:c.G477A:p.R159R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G477A:p.R159R;ENSG00000053747:ENST00000587184:exon5:c.G477A:p.R159R;ENSG00000053747:ENST00000399516:exon42:c.G5304A:p.R1768R;ENSG00000053747:ENST00000313654:exon42:c.G5304A:p.R1768R;	9.94111957701365E-4	0.044
18	21469975	G	C	18	23890011	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.G5304C:p.R1768S;LAMA3:NM_001127718:exon5:c.G477C:p.R159S;LAMA3:NM_001127717:exon42:c.G5304C:p.R1768S;LAMA3:NM_000227:exon5:c.G477C:p.R159S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G477C:p.R159S;ENSG00000053747:ENST00000587184:exon5:c.G477C:p.R159S;ENSG00000053747:ENST00000399516:exon42:c.G5304C:p.R1768S;ENSG00000053747:ENST00000313654:exon42:c.G5304C:p.R1768S;	0.425966791134333	0.396
18	21469975	G	T	18	23890011	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.G5304T:p.R1768S;LAMA3:NM_001127718:exon5:c.G477T:p.R159S;LAMA3:NM_001127717:exon42:c.G5304T:p.R1768S;LAMA3:NM_000227:exon5:c.G477T:p.R159S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G477T:p.R159S;ENSG00000053747:ENST00000587184:exon5:c.G477T:p.R159S;ENSG00000053747:ENST00000399516:exon42:c.G5304T:p.R1768S;ENSG00000053747:ENST00000313654:exon42:c.G5304T:p.R1768S;	0.922658770531567	0.528
18	21469976	T	A	18	23890012	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.T5305A:p.C1769S;LAMA3:NM_001127718:exon5:c.T478A:p.C160S;LAMA3:NM_001127717:exon42:c.T5305A:p.C1769S;LAMA3:NM_000227:exon5:c.T478A:p.C160S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.T478A:p.C160S;ENSG00000053747:ENST00000587184:exon5:c.T478A:p.C160S;ENSG00000053747:ENST00000399516:exon42:c.T5305A:p.C1769S;ENSG00000053747:ENST00000313654:exon42:c.T5305A:p.C1769S;	0.397987104975687	0.512
18	21469976	T	C	18	23890012	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.T5305C:p.C1769R;LAMA3:NM_001127718:exon5:c.T478C:p.C160R;LAMA3:NM_001127717:exon42:c.T5305C:p.C1769R;LAMA3:NM_000227:exon5:c.T478C:p.C160R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.T478C:p.C160R;ENSG00000053747:ENST00000587184:exon5:c.T478C:p.C160R;ENSG00000053747:ENST00000399516:exon42:c.T5305C:p.C1769R;ENSG00000053747:ENST00000313654:exon42:c.T5305C:p.C1769R;	0.39697779820715	0.472
18	21469976	T	G	18	23890012	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.T5305G:p.C1769G;LAMA3:NM_001127718:exon5:c.T478G:p.C160G;LAMA3:NM_001127717:exon42:c.T5305G:p.C1769G;LAMA3:NM_000227:exon5:c.T478G:p.C160G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.T478G:p.C160G;ENSG00000053747:ENST00000587184:exon5:c.T478G:p.C160G;ENSG00000053747:ENST00000399516:exon42:c.T5305G:p.C1769G;ENSG00000053747:ENST00000313654:exon42:c.T5305G:p.C1769G;	0.294576307515266	0.41
18	21470079	G	A	18	23890115	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.G5408A:p.G1803E;LAMA3:NM_001127718:exon5:c.G581A:p.G194E;LAMA3:NM_001127717:exon42:c.G5408A:p.G1803E;LAMA3:NM_000227:exon5:c.G581A:p.G194E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G581A:p.G194E;ENSG00000053747:ENST00000587184:exon5:c.G581A:p.G194E;ENSG00000053747:ENST00000399516:exon42:c.G5408A:p.G1803E;ENSG00000053747:ENST00000313654:exon42:c.G5408A:p.G1803E;	0.935414763837608	0.77
18	21470079	G	C	18	23890115	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.G5408C:p.G1803A;LAMA3:NM_001127718:exon5:c.G581C:p.G194A;LAMA3:NM_001127717:exon42:c.G5408C:p.G1803A;LAMA3:NM_000227:exon5:c.G581C:p.G194A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G581C:p.G194A;ENSG00000053747:ENST00000587184:exon5:c.G581C:p.G194A;ENSG00000053747:ENST00000399516:exon42:c.G5408C:p.G1803A;ENSG00000053747:ENST00000313654:exon42:c.G5408C:p.G1803A;	0.913815566060573	0.676
18	21470079	G	T	18	23890115	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.G5408T:p.G1803V;LAMA3:NM_001127718:exon5:c.G581T:p.G194V;LAMA3:NM_001127717:exon42:c.G5408T:p.G1803V;LAMA3:NM_000227:exon5:c.G581T:p.G194V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G581T:p.G194V;ENSG00000053747:ENST00000587184:exon5:c.G581T:p.G194V;ENSG00000053747:ENST00000399516:exon42:c.G5408T:p.G1803V;ENSG00000053747:ENST00000313654:exon42:c.G5408T:p.G1803V;	0.972752892943476	0.738
18	21470080	A	C	18	23890116	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon42:c.A5409C:p.G1803G;LAMA3:NM_001127718:exon5:c.A582C:p.G194G;LAMA3:NM_001127717:exon42:c.A5409C:p.G1803G;LAMA3:NM_000227:exon5:c.A582C:p.G194G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.A582C:p.G194G;ENSG00000053747:ENST00000587184:exon5:c.A582C:p.G194G;ENSG00000053747:ENST00000399516:exon42:c.A5409C:p.G1803G;ENSG00000053747:ENST00000313654:exon42:c.A5409C:p.G1803G;	0.466323571577426	0.506
18	21470080	A	G	18	23890116	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon42:c.A5409G:p.G1803G;LAMA3:NM_001127718:exon5:c.A582G:p.G194G;LAMA3:NM_001127717:exon42:c.A5409G:p.G1803G;LAMA3:NM_000227:exon5:c.A582G:p.G194G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.A582G:p.G194G;ENSG00000053747:ENST00000587184:exon5:c.A582G:p.G194G;ENSG00000053747:ENST00000399516:exon42:c.A5409G:p.G1803G;ENSG00000053747:ENST00000313654:exon42:c.A5409G:p.G1803G;	0.76218648846264	0.586
18	21470080	A	T	18	23890116	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon42:c.A5409T:p.G1803G;LAMA3:NM_001127718:exon5:c.A582T:p.G194G;LAMA3:NM_001127717:exon42:c.A5409T:p.G1803G;LAMA3:NM_000227:exon5:c.A582T:p.G194G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.A582T:p.G194G;ENSG00000053747:ENST00000587184:exon5:c.A582T:p.G194G;ENSG00000053747:ENST00000399516:exon42:c.A5409T:p.G1803G;ENSG00000053747:ENST00000313654:exon42:c.A5409T:p.G1803G;	0.49746323941692	0.566
18	21470081	G	A	18	23890117	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.G5410A:p.D1804N;LAMA3:NM_001127718:exon5:c.G583A:p.D195N;LAMA3:NM_001127717:exon42:c.G5410A:p.D1804N;LAMA3:NM_000227:exon5:c.G583A:p.D195N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G583A:p.D195N;ENSG00000053747:ENST00000587184:exon5:c.G583A:p.D195N;ENSG00000053747:ENST00000399516:exon42:c.G5410A:p.D1804N;ENSG00000053747:ENST00000313654:exon42:c.G5410A:p.D1804N;	0.999916434858474	0.972
18	21470081	G	C	18	23890117	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.G5410C:p.D1804H;LAMA3:NM_001127718:exon5:c.G583C:p.D195H;LAMA3:NM_001127717:exon42:c.G5410C:p.D1804H;LAMA3:NM_000227:exon5:c.G583C:p.D195H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G583C:p.D195H;ENSG00000053747:ENST00000587184:exon5:c.G583C:p.D195H;ENSG00000053747:ENST00000399516:exon42:c.G5410C:p.D1804H;ENSG00000053747:ENST00000313654:exon42:c.G5410C:p.D1804H;	0.999920477401211	0.928
18	21470081	G	T	18	23890117	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon42:c.G5410T:p.D1804Y;LAMA3:NM_001127718:exon5:c.G583T:p.D195Y;LAMA3:NM_001127717:exon42:c.G5410T:p.D1804Y;LAMA3:NM_000227:exon5:c.G583T:p.D195Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon5:c.G583T:p.D195Y;ENSG00000053747:ENST00000587184:exon5:c.G583T:p.D195Y;ENSG00000053747:ENST00000399516:exon42:c.G5410T:p.D1804Y;ENSG00000053747:ENST00000313654:exon42:c.G5410T:p.D1804Y;	0.999845271686971	0.99
18	21470082	G	A	18	23890118	y	y	splicing	LAMA3(NM_001127717:exon42:c.5410+1G>A;NM_198129:exon42:c.5410+1G>A;NM_001127718:exon5:c.583+1G>A;NM_000227:exon5:c.583+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5410+1G>A;ENST00000399516:exon42:c.5410+1G>A;ENST00000269217:exon5:c.583+1G>A;ENST00000587184:exon5:c.583+1G>A;ENST00000586751:exon2:c.188+1G>A)	.	.	0.999985532734767	0.938
18	21470082	G	C	18	23890118	y	y	splicing	LAMA3(NM_001127717:exon42:c.5410+1G>C;NM_198129:exon42:c.5410+1G>C;NM_001127718:exon5:c.583+1G>C;NM_000227:exon5:c.583+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5410+1G>C;ENST00000399516:exon42:c.5410+1G>C;ENST00000269217:exon5:c.583+1G>C;ENST00000587184:exon5:c.583+1G>C;ENST00000586751:exon2:c.188+1G>C)	.	.	0.999974090184857	0.938
18	21470082	G	T	18	23890118	y	y	splicing	LAMA3(NM_001127717:exon42:c.5410+1G>T;NM_198129:exon42:c.5410+1G>T;NM_001127718:exon5:c.583+1G>T;NM_000227:exon5:c.583+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5410+1G>T;ENST00000399516:exon42:c.5410+1G>T;ENST00000269217:exon5:c.583+1G>T;ENST00000587184:exon5:c.583+1G>T;ENST00000586751:exon2:c.188+1G>T)	.	.	0.999974090184857	0.936
18	21470083	T	A	18	23890119	y	y	splicing	LAMA3(NM_001127717:exon42:c.5410+2T>A;NM_198129:exon42:c.5410+2T>A;NM_001127718:exon5:c.583+2T>A;NM_000227:exon5:c.583+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5410+2T>A;ENST00000399516:exon42:c.5410+2T>A;ENST00000269217:exon5:c.583+2T>A;ENST00000587184:exon5:c.583+2T>A;ENST00000586751:exon2:c.188+2T>A)	.	.	0.999978952611685	0.928
18	21470083	T	C	18	23890119	y	y	splicing	LAMA3(NM_001127717:exon42:c.5410+2T>C;NM_198129:exon42:c.5410+2T>C;NM_001127718:exon5:c.583+2T>C;NM_000227:exon5:c.583+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5410+2T>C;ENST00000399516:exon42:c.5410+2T>C;ENST00000269217:exon5:c.583+2T>C;ENST00000587184:exon5:c.583+2T>C;ENST00000586751:exon2:c.188+2T>C)	.	.	0.985124993549982	0.656
18	21470083	T	G	18	23890119	y	y	splicing	LAMA3(NM_001127717:exon42:c.5410+2T>G;NM_198129:exon42:c.5410+2T>G;NM_001127718:exon5:c.583+2T>G;NM_000227:exon5:c.583+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon42:c.5410+2T>G;ENST00000399516:exon42:c.5410+2T>G;ENST00000269217:exon5:c.583+2T>G;ENST00000587184:exon5:c.583+2T>G;ENST00000586751:exon2:c.188+2T>G)	.	.	0.999970661931818	0.926
18	21470084	A	C	18	23890120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.986195031895736	0.776
18	21470084	A	G	18	23890120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.215873854212183	0.258
18	21470084	A	T	18	23890120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995775896488443	0.728
18	21470085	A	C	18	23890121	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.301563738721954	0.528
18	21470085	A	G	18	23890121	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.513673140914267	0.43
18	21470085	A	T	18	23890121	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.527926681318011	0.554
18	21470086	G	A	18	23890122	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.675813849748863	0.456
18	21470086	G	C	18	23890122	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.730244408694229	0.486
18	21470086	G	T	18	23890122	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.8425332331591	0.474
18	21470087	G	A	18	23890123	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.50199808717707E-5	0.004
18	21470087	G	C	18	23890123	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.27618457521973E-5	0.002
18	21470087	G	T	18	23890123	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58331619741799E-5	0.0
18	21470088	C	A	18	23890124	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.90028566392549E-5	0.0
18	21470088	C	G	18	23890124	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.74445165352298E-5	0.018
18	21470088	C	T	18	23890124	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.44847827846911E-5	0.0
18	21470089	C	A	18	23890125	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.8892041298197E-5	0.002
18	21470089	C	G	18	23890125	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.51787433964804E-5	0.0
18	21470089	C	T	18	23890125	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.8892041298197E-5	0.0
18	21474250	T	A	18	23894286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0114551904364967	0.294
18	21474250	T	C	18	23894286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.93112430553568E-5	0.002
18	21474250	T	G	18	23894286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0035164556917828	0.276
18	21474251	T	A	18	23894287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.203131088091232	0.31
18	21474251	T	C	18	23894287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.74755530814361E-4	0.024
18	21474251	T	G	18	23894287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0534826958513066	0.344
18	21474252	C	A	18	23894288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.40294538782858E-4	0.026
18	21474252	C	G	18	23894288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.04611779349E-4	0.024
18	21474252	C	T	18	23894288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.55785978486885E-5	0.0
18	21474253	T	A	18	23894289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999911405508319	0.98
18	21474253	T	C	18	23894289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.04093265850487E-4	0.022
18	21474253	T	G	18	23894289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0752005004171415	0.37
18	21474254	G	A	18	23894290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20925733314173E-4	0.082
18	21474254	G	C	18	23894290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.59015896674933E-5	0.0
18	21474254	G	T	18	23894290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.06987937135219E-5	0.0
18	21474255	A	C	18	23894291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.90961291530202E-5	0.0
18	21474255	A	G	18	23894291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.77558022238219E-5	0.012
18	21474255	A	T	18	23894291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.89478949584891E-5	0.0
18	21474256	T	A	18	23894292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.964473216789046	0.832
18	21474256	T	C	18	23894292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00528926270565052	0.156
18	21474256	T	G	18	23894292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999931290751673	0.964
18	21474257	T	A	18	23894293	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998684511988394	0.914
18	21474257	T	C	18	23894293	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.152112201128669	0.264
18	21474257	T	G	18	23894293	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993720633260753	0.9
18	21474258	T	A	18	23894294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00514583103818699	0.054
18	21474258	T	C	18	23894294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.68304485928378E-4	0.028
18	21474258	T	G	18	23894294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00332145801062324	0.056
18	21474259	T	A	18	23894295	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0501901788065995	0.276
18	21474259	T	C	18	23894295	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.23184534487688E-4	0.0
18	21474259	T	G	18	23894295	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.826096660981563	0.636
18	21474260	A	C	18	23894296	y	y	splicing	LAMA3(NM_001127717:exon43:c.5411-2A>C;NM_198129:exon43:c.5411-2A>C;NM_001127718:exon6:c.584-2A>C;NM_000227:exon6:c.584-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5411-2A>C;ENST00000399516:exon43:c.5411-2A>C;ENST00000269217:exon6:c.584-2A>C;ENST00000587184:exon6:c.584-2A>C;ENST00000586751:exon3:c.189-2A>C)	.	.	0.999988247793601	0.93
18	21474260	A	G	18	23894296	y	y	splicing	LAMA3(NM_001127717:exon43:c.5411-2A>G;NM_198129:exon43:c.5411-2A>G;NM_001127718:exon6:c.584-2A>G;NM_000227:exon6:c.584-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5411-2A>G;ENST00000399516:exon43:c.5411-2A>G;ENST00000269217:exon6:c.584-2A>G;ENST00000587184:exon6:c.584-2A>G;ENST00000586751:exon3:c.189-2A>G)	.	.	0.999988247793601	0.93
18	21474260	A	T	18	23894296	y	y	splicing	LAMA3(NM_001127717:exon43:c.5411-2A>T;NM_198129:exon43:c.5411-2A>T;NM_001127718:exon6:c.584-2A>T;NM_000227:exon6:c.584-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5411-2A>T;ENST00000399516:exon43:c.5411-2A>T;ENST00000269217:exon6:c.584-2A>T;ENST00000587184:exon6:c.584-2A>T;ENST00000586751:exon3:c.189-2A>T)	.	.	0.999988247793601	0.93
18	21474261	G	A	18	23894297	y	y	splicing	LAMA3(NM_001127717:exon43:c.5411-1G>A;NM_198129:exon43:c.5411-1G>A;NM_001127718:exon6:c.584-1G>A;NM_000227:exon6:c.584-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5411-1G>A;ENST00000399516:exon43:c.5411-1G>A;ENST00000269217:exon6:c.584-1G>A;ENST00000587184:exon6:c.584-1G>A;ENST00000586751:exon3:c.189-1G>A)	.	.	0.999990361384395	0.938
18	21474261	G	C	18	23894297	y	y	splicing	LAMA3(NM_001127717:exon43:c.5411-1G>C;NM_198129:exon43:c.5411-1G>C;NM_001127718:exon6:c.584-1G>C;NM_000227:exon6:c.584-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5411-1G>C;ENST00000399516:exon43:c.5411-1G>C;ENST00000269217:exon6:c.584-1G>C;ENST00000587184:exon6:c.584-1G>C;ENST00000586751:exon3:c.189-1G>C)	.	.	0.999990361384395	0.938
18	21474261	G	T	18	23894297	y	y	splicing	LAMA3(NM_001127717:exon43:c.5411-1G>T;NM_198129:exon43:c.5411-1G>T;NM_001127718:exon6:c.584-1G>T;NM_000227:exon6:c.584-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5411-1G>T;ENST00000399516:exon43:c.5411-1G>T;ENST00000269217:exon6:c.584-1G>T;ENST00000587184:exon6:c.584-1G>T;ENST00000586751:exon3:c.189-1G>T)	.	.	0.999990361384395	0.938
18	21474262	A	C	18	23894298	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.A5411C:p.D1804A;LAMA3:NM_001127718:exon6:c.A584C:p.D195A;LAMA3:NM_001127717:exon43:c.A5411C:p.D1804A;LAMA3:NM_000227:exon6:c.A584C:p.D195A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.A584C:p.D195A;ENSG00000053747:ENST00000587184:exon6:c.A584C:p.D195A;ENSG00000053747:ENST00000399516:exon43:c.A5411C:p.D1804A;ENSG00000053747:ENST00000313654:exon43:c.A5411C:p.D1804A;	0.0430535704499302	0.262
18	21474262	A	G	18	23894298	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.A5411G:p.D1804G;LAMA3:NM_001127718:exon6:c.A584G:p.D195G;LAMA3:NM_001127717:exon43:c.A5411G:p.D1804G;LAMA3:NM_000227:exon6:c.A584G:p.D195G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.A584G:p.D195G;ENSG00000053747:ENST00000587184:exon6:c.A584G:p.D195G;ENSG00000053747:ENST00000399516:exon43:c.A5411G:p.D1804G;ENSG00000053747:ENST00000313654:exon43:c.A5411G:p.D1804G;	0.0364529579216712	0.226
18	21474262	A	T	18	23894298	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.A5411T:p.D1804V;LAMA3:NM_001127718:exon6:c.A584T:p.D195V;LAMA3:NM_001127717:exon43:c.A5411T:p.D1804V;LAMA3:NM_000227:exon6:c.A584T:p.D195V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.A584T:p.D195V;ENSG00000053747:ENST00000587184:exon6:c.A584T:p.D195V;ENSG00000053747:ENST00000399516:exon43:c.A5411T:p.D1804V;ENSG00000053747:ENST00000313654:exon43:c.A5411T:p.D1804V;	0.815250514759965	0.522
18	21474263	C	A	18	23894299	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.C5412A:p.D1804E;LAMA3:NM_001127718:exon6:c.C585A:p.D195E;LAMA3:NM_001127717:exon43:c.C5412A:p.D1804E;LAMA3:NM_000227:exon6:c.C585A:p.D195E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.C585A:p.D195E;ENSG00000053747:ENST00000587184:exon6:c.C585A:p.D195E;ENSG00000053747:ENST00000399516:exon43:c.C5412A:p.D1804E;ENSG00000053747:ENST00000313654:exon43:c.C5412A:p.D1804E;	6.17261559370557E-5	0.004
18	21474263	C	G	18	23894299	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.C5412G:p.D1804E;LAMA3:NM_001127718:exon6:c.C585G:p.D195E;LAMA3:NM_001127717:exon43:c.C5412G:p.D1804E;LAMA3:NM_000227:exon6:c.C585G:p.D195E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.C585G:p.D195E;ENSG00000053747:ENST00000587184:exon6:c.C585G:p.D195E;ENSG00000053747:ENST00000399516:exon43:c.C5412G:p.D1804E;ENSG00000053747:ENST00000313654:exon43:c.C5412G:p.D1804E;	9.71353778952072E-5	0.006
18	21474263	C	T	18	23894299	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon43:c.C5412T:p.D1804D;LAMA3:NM_001127718:exon6:c.C585T:p.D195D;LAMA3:NM_001127717:exon43:c.C5412T:p.D1804D;LAMA3:NM_000227:exon6:c.C585T:p.D195D;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.C585T:p.D195D;ENSG00000053747:ENST00000587184:exon6:c.C585T:p.D195D;ENSG00000053747:ENST00000399516:exon43:c.C5412T:p.D1804D;ENSG00000053747:ENST00000313654:exon43:c.C5412T:p.D1804D;	1.39905996999073E-4	0.0
18	21474310	A	C	18	23894346	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.A5459C:p.D1820A;LAMA3:NM_001127718:exon6:c.A632C:p.D211A;LAMA3:NM_001127717:exon43:c.A5459C:p.D1820A;LAMA3:NM_000227:exon6:c.A632C:p.D211A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.A632C:p.D211A;ENSG00000053747:ENST00000587184:exon6:c.A632C:p.D211A;ENSG00000053747:ENST00000399516:exon43:c.A5459C:p.D1820A;ENSG00000053747:ENST00000313654:exon43:c.A5459C:p.D1820A;	0.940436615700445	0.552
18	21474310	A	G	18	23894346	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.A5459G:p.D1820G;LAMA3:NM_001127718:exon6:c.A632G:p.D211G;LAMA3:NM_001127717:exon43:c.A5459G:p.D1820G;LAMA3:NM_000227:exon6:c.A632G:p.D211G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.A632G:p.D211G;ENSG00000053747:ENST00000587184:exon6:c.A632G:p.D211G;ENSG00000053747:ENST00000399516:exon43:c.A5459G:p.D1820G;ENSG00000053747:ENST00000313654:exon43:c.A5459G:p.D1820G;	0.925025607581946	0.582
18	21474310	A	T	18	23894346	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.A5459T:p.D1820V;LAMA3:NM_001127718:exon6:c.A632T:p.D211V;LAMA3:NM_001127717:exon43:c.A5459T:p.D1820V;LAMA3:NM_000227:exon6:c.A632T:p.D211V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.A632T:p.D211V;ENSG00000053747:ENST00000587184:exon6:c.A632T:p.D211V;ENSG00000053747:ENST00000399516:exon43:c.A5459T:p.D1820V;ENSG00000053747:ENST00000313654:exon43:c.A5459T:p.D1820V;	0.998829756851283	0.776
18	21474311	T	A	18	23894347	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.T5460A:p.D1820E;LAMA3:NM_001127718:exon6:c.T633A:p.D211E;LAMA3:NM_001127717:exon43:c.T5460A:p.D1820E;LAMA3:NM_000227:exon6:c.T633A:p.D211E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.T633A:p.D211E;ENSG00000053747:ENST00000587184:exon6:c.T633A:p.D211E;ENSG00000053747:ENST00000399516:exon43:c.T5460A:p.D1820E;ENSG00000053747:ENST00000313654:exon43:c.T5460A:p.D1820E;	7.45071939695581E-4	0.28
18	21474311	T	C	18	23894347	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon43:c.T5460C:p.D1820D;LAMA3:NM_001127718:exon6:c.T633C:p.D211D;LAMA3:NM_001127717:exon43:c.T5460C:p.D1820D;LAMA3:NM_000227:exon6:c.T633C:p.D211D;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.T633C:p.D211D;ENSG00000053747:ENST00000587184:exon6:c.T633C:p.D211D;ENSG00000053747:ENST00000399516:exon43:c.T5460C:p.D1820D;ENSG00000053747:ENST00000313654:exon43:c.T5460C:p.D1820D;	7.09073356305509E-4	0.044
18	21474311	T	G	18	23894347	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.T5460G:p.D1820E;LAMA3:NM_001127718:exon6:c.T633G:p.D211E;LAMA3:NM_001127717:exon43:c.T5460G:p.D1820E;LAMA3:NM_000227:exon6:c.T633G:p.D211E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.T633G:p.D211E;ENSG00000053747:ENST00000587184:exon6:c.T633G:p.D211E;ENSG00000053747:ENST00000399516:exon43:c.T5460G:p.D1820E;ENSG00000053747:ENST00000313654:exon43:c.T5460G:p.D1820E;	0.00324385413100107	0.132
18	21474312	G	A	18	23894348	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.G5461A:p.D1821N;LAMA3:NM_001127718:exon6:c.G634A:p.D212N;LAMA3:NM_001127717:exon43:c.G5461A:p.D1821N;LAMA3:NM_000227:exon6:c.G634A:p.D212N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.G634A:p.D212N;ENSG00000053747:ENST00000587184:exon6:c.G634A:p.D212N;ENSG00000053747:ENST00000399516:exon43:c.G5461A:p.D1821N;ENSG00000053747:ENST00000313654:exon43:c.G5461A:p.D1821N;	0.999993422657712	1.0
18	21474312	G	C	18	23894348	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.G5461C:p.D1821H;LAMA3:NM_001127718:exon6:c.G634C:p.D212H;LAMA3:NM_001127717:exon43:c.G5461C:p.D1821H;LAMA3:NM_000227:exon6:c.G634C:p.D212H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.G634C:p.D212H;ENSG00000053747:ENST00000587184:exon6:c.G634C:p.D212H;ENSG00000053747:ENST00000399516:exon43:c.G5461C:p.D1821H;ENSG00000053747:ENST00000313654:exon43:c.G5461C:p.D1821H;	0.999993141279875	0.998
18	21474312	G	T	18	23894348	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon43:c.G5461T:p.D1821Y;LAMA3:NM_001127718:exon6:c.G634T:p.D212Y;LAMA3:NM_001127717:exon43:c.G5461T:p.D1821Y;LAMA3:NM_000227:exon6:c.G634T:p.D212Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon6:c.G634T:p.D212Y;ENSG00000053747:ENST00000587184:exon6:c.G634T:p.D212Y;ENSG00000053747:ENST00000399516:exon43:c.G5461T:p.D1821Y;ENSG00000053747:ENST00000313654:exon43:c.G5461T:p.D1821Y;	0.999992639538021	0.962
18	21474313	G	A	18	23894349	y	y	splicing	LAMA3(NM_001127717:exon43:c.5461+1G>A;NM_198129:exon43:c.5461+1G>A;NM_001127718:exon6:c.634+1G>A;NM_000227:exon6:c.634+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5461+1G>A;ENST00000399516:exon43:c.5461+1G>A;ENST00000269217:exon6:c.634+1G>A;ENST00000587184:exon6:c.634+1G>A;ENST00000586751:exon3:c.239+1G>A)	.	.	0.999990361384395	0.942
18	21474313	G	C	18	23894349	y	y	splicing	LAMA3(NM_001127717:exon43:c.5461+1G>C;NM_198129:exon43:c.5461+1G>C;NM_001127718:exon6:c.634+1G>C;NM_000227:exon6:c.634+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5461+1G>C;ENST00000399516:exon43:c.5461+1G>C;ENST00000269217:exon6:c.634+1G>C;ENST00000587184:exon6:c.634+1G>C;ENST00000586751:exon3:c.239+1G>C)	.	.	0.999990361384395	0.942
18	21474313	G	T	18	23894349	y	y	splicing	LAMA3(NM_001127717:exon43:c.5461+1G>T;NM_198129:exon43:c.5461+1G>T;NM_001127718:exon6:c.634+1G>T;NM_000227:exon6:c.634+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5461+1G>T;ENST00000399516:exon43:c.5461+1G>T;ENST00000269217:exon6:c.634+1G>T;ENST00000587184:exon6:c.634+1G>T;ENST00000586751:exon3:c.239+1G>T)	.	.	0.999990361384395	0.942
18	21474314	T	A	18	23894350	y	y	splicing	LAMA3(NM_001127717:exon43:c.5461+2T>A;NM_198129:exon43:c.5461+2T>A;NM_001127718:exon6:c.634+2T>A;NM_000227:exon6:c.634+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5461+2T>A;ENST00000399516:exon43:c.5461+2T>A;ENST00000269217:exon6:c.634+2T>A;ENST00000587184:exon6:c.634+2T>A;ENST00000586751:exon3:c.239+2T>A)	.	.	0.999988247793601	0.934
18	21474314	T	C	18	23894350	y	y	splicing	LAMA3(NM_001127717:exon43:c.5461+2T>C;NM_198129:exon43:c.5461+2T>C;NM_001127718:exon6:c.634+2T>C;NM_000227:exon6:c.634+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5461+2T>C;ENST00000399516:exon43:c.5461+2T>C;ENST00000269217:exon6:c.634+2T>C;ENST00000587184:exon6:c.634+2T>C;ENST00000586751:exon3:c.239+2T>C)	.	.	0.999977296025089	0.94
18	21474314	T	G	18	23894350	y	y	splicing	LAMA3(NM_001127717:exon43:c.5461+2T>G;NM_198129:exon43:c.5461+2T>G;NM_001127718:exon6:c.634+2T>G;NM_000227:exon6:c.634+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon43:c.5461+2T>G;ENST00000399516:exon43:c.5461+2T>G;ENST00000269217:exon6:c.634+2T>G;ENST00000587184:exon6:c.634+2T>G;ENST00000586751:exon3:c.239+2T>G)	.	.	0.999988247793601	0.936
18	21474315	G	A	18	23894351	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.25749641191731E-4	0.012
18	21474315	G	C	18	23894351	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.826655052902935	0.694
18	21474315	G	T	18	23894351	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.715405289486897	0.706
18	21474316	A	C	18	23894352	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998128292358777	0.952
18	21474316	A	G	18	23894352	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998479022337377	0.966
18	21474316	A	T	18	23894352	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999627354087798	0.966
18	21474317	G	A	18	23894353	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999965227971766	0.99
18	21474317	G	C	18	23894353	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99994626206832	0.972
18	21474317	G	T	18	23894353	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999930460458742	0.97
18	21474318	A	C	18	23894354	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.57321717208239E-4	0.048
18	21474318	A	G	18	23894354	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.08098333965912E-5	0.002
18	21474318	A	T	18	23894354	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.5316424406333E-4	0.034
18	21474319	A	C	18	23894355	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57844185598023E-4	0.02
18	21474319	A	G	18	23894355	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.57657731470324E-4	0.04
18	21474319	A	T	18	23894355	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00127425085079049	0.046
18	21474320	A	C	18	23894356	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.58403451543353E-4	0.024
18	21474320	A	G	18	23894356	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.88684036841024E-4	0.09
18	21474320	A	T	18	23894356	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00118697835151354	0.244
18	21474859	T	A	18	23894895	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999975531716133	0.97
18	21474859	T	C	18	23894895	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0689070159252875	0.222
18	21474859	T	G	18	23894895	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997568941538792	0.834
18	21474860	G	A	18	23894896	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999939249477617	0.962
18	21474860	G	C	18	23894896	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.270931148789021	0.412
18	21474860	G	T	18	23894896	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.294536526205564	0.414
18	21474861	G	A	18	23894897	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00176292062205683	0.182
18	21474861	G	C	18	23894897	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.2128330095301E-4	0.084
18	21474861	G	T	18	23894897	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.15906844360703E-4	0.16
18	21474862	C	A	18	23894898	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00108189228984888	0.192
18	21474862	C	G	18	23894898	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.63538412275891E-4	0.158
18	21474862	C	T	18	23894898	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38929729699629E-5	0.01
18	21474863	C	A	18	23894899	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.711469547203901	0.512
18	21474863	C	G	18	23894899	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.443797830820498	0.424
18	21474863	C	T	18	23894899	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0183840743380594	0.184
18	21474864	C	A	18	23894900	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.815601450971382	0.28
18	21474864	C	G	18	23894900	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.506462710084702	0.23
18	21474864	C	T	18	23894900	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.71963018707805E-4	0.058
18	21474865	C	A	18	23894901	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00268981595186255	0.276
18	21474865	C	G	18	23894901	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00517379438252223	0.298
18	21474865	C	T	18	23894901	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.31413010338431E-4	0.008
18	21474866	T	A	18	23894902	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.783956603457789	0.714
18	21474866	T	C	18	23894902	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00190929522013514	0.056
18	21474866	T	G	18	23894902	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.642965053502933	0.708
18	21474867	A	C	18	23894903	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.67188331753716E-4	0.06
18	21474867	A	G	18	23894903	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.38547104194327E-4	0.088
18	21474867	A	T	18	23894903	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.63298862610125E-4	0.02
18	21474868	C	A	18	23894904	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992791397849436	0.924
18	21474868	C	G	18	23894904	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999909435641601	0.984
18	21474868	C	T	18	23894904	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0174381268743028	0.128
18	21474869	A	C	18	23894905	y	y	splicing	LAMA3(NM_001127717:exon44:c.5462-2A>C;NM_198129:exon44:c.5462-2A>C;NM_001127718:exon7:c.635-2A>C;NM_000227:exon7:c.635-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5462-2A>C;ENST00000399516:exon44:c.5462-2A>C;ENST00000269217:exon7:c.635-2A>C;ENST00000587184:exon7:c.635-2A>C;ENST00000586751:exon4:c.240-2A>C)	.	.	0.999988247793601	0.95
18	21474869	A	G	18	23894905	y	y	splicing	LAMA3(NM_001127717:exon44:c.5462-2A>G;NM_198129:exon44:c.5462-2A>G;NM_001127718:exon7:c.635-2A>G;NM_000227:exon7:c.635-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5462-2A>G;ENST00000399516:exon44:c.5462-2A>G;ENST00000269217:exon7:c.635-2A>G;ENST00000587184:exon7:c.635-2A>G;ENST00000586751:exon4:c.240-2A>G)	.	.	0.999988247793601	0.95
18	21474869	A	T	18	23894905	y	y	splicing	LAMA3(NM_001127717:exon44:c.5462-2A>T;NM_198129:exon44:c.5462-2A>T;NM_001127718:exon7:c.635-2A>T;NM_000227:exon7:c.635-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5462-2A>T;ENST00000399516:exon44:c.5462-2A>T;ENST00000269217:exon7:c.635-2A>T;ENST00000587184:exon7:c.635-2A>T;ENST00000586751:exon4:c.240-2A>T)	.	.	0.999988247793601	0.95
18	21474870	G	A	18	23894906	y	y	splicing	LAMA3(NM_001127717:exon44:c.5462-1G>A;NM_198129:exon44:c.5462-1G>A;NM_001127718:exon7:c.635-1G>A;NM_000227:exon7:c.635-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5462-1G>A;ENST00000399516:exon44:c.5462-1G>A;ENST00000269217:exon7:c.635-1G>A;ENST00000587184:exon7:c.635-1G>A;ENST00000586751:exon4:c.240-1G>A)	.	.	0.999990361384395	0.948
18	21474870	G	C	18	23894906	y	y	splicing	LAMA3(NM_001127717:exon44:c.5462-1G>C;NM_198129:exon44:c.5462-1G>C;NM_001127718:exon7:c.635-1G>C;NM_000227:exon7:c.635-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5462-1G>C;ENST00000399516:exon44:c.5462-1G>C;ENST00000269217:exon7:c.635-1G>C;ENST00000587184:exon7:c.635-1G>C;ENST00000586751:exon4:c.240-1G>C)	.	.	0.999990361384395	0.948
18	21474870	G	T	18	23894906	y	y	splicing	LAMA3(NM_001127717:exon44:c.5462-1G>T;NM_198129:exon44:c.5462-1G>T;NM_001127718:exon7:c.635-1G>T;NM_000227:exon7:c.635-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5462-1G>T;ENST00000399516:exon44:c.5462-1G>T;ENST00000269217:exon7:c.635-1G>T;ENST00000587184:exon7:c.635-1G>T;ENST00000586751:exon4:c.240-1G>T)	.	.	0.999990361384395	0.948
18	21474871	A	C	18	23894907	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.A5462C:p.D1821A;LAMA3:NM_001127718:exon7:c.A635C:p.D212A;LAMA3:NM_001127717:exon44:c.A5462C:p.D1821A;LAMA3:NM_000227:exon7:c.A635C:p.D212A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.A635C:p.D212A;ENSG00000053747:ENST00000587184:exon7:c.A635C:p.D212A;ENSG00000053747:ENST00000399516:exon44:c.A5462C:p.D1821A;ENSG00000053747:ENST00000313654:exon44:c.A5462C:p.D1821A;	0.0481430035023148	0.306
18	21474871	A	G	18	23894907	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.A5462G:p.D1821G;LAMA3:NM_001127718:exon7:c.A635G:p.D212G;LAMA3:NM_001127717:exon44:c.A5462G:p.D1821G;LAMA3:NM_000227:exon7:c.A635G:p.D212G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.A635G:p.D212G;ENSG00000053747:ENST00000587184:exon7:c.A635G:p.D212G;ENSG00000053747:ENST00000399516:exon44:c.A5462G:p.D1821G;ENSG00000053747:ENST00000313654:exon44:c.A5462G:p.D1821G;	0.419405024922791	0.318
18	21474871	A	T	18	23894907	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.A5462T:p.D1821V;LAMA3:NM_001127718:exon7:c.A635T:p.D212V;LAMA3:NM_001127717:exon44:c.A5462T:p.D1821V;LAMA3:NM_000227:exon7:c.A635T:p.D212V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.A635T:p.D212V;ENSG00000053747:ENST00000587184:exon7:c.A635T:p.D212V;ENSG00000053747:ENST00000399516:exon44:c.A5462T:p.D1821V;ENSG00000053747:ENST00000313654:exon44:c.A5462T:p.D1821V;	0.876611003918283	0.558
18	21474872	T	A	18	23894908	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.T5463A:p.D1821E;LAMA3:NM_001127718:exon7:c.T636A:p.D212E;LAMA3:NM_001127717:exon44:c.T5463A:p.D1821E;LAMA3:NM_000227:exon7:c.T636A:p.D212E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.T636A:p.D212E;ENSG00000053747:ENST00000587184:exon7:c.T636A:p.D212E;ENSG00000053747:ENST00000399516:exon44:c.T5463A:p.D1821E;ENSG00000053747:ENST00000313654:exon44:c.T5463A:p.D1821E;	1.08440448251794E-4	0.094
18	21474872	T	C	18	23894908	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon44:c.T5463C:p.D1821D;LAMA3:NM_001127718:exon7:c.T636C:p.D212D;LAMA3:NM_001127717:exon44:c.T5463C:p.D1821D;LAMA3:NM_000227:exon7:c.T636C:p.D212D;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.T636C:p.D212D;ENSG00000053747:ENST00000587184:exon7:c.T636C:p.D212D;ENSG00000053747:ENST00000399516:exon44:c.T5463C:p.D1821D;ENSG00000053747:ENST00000313654:exon44:c.T5463C:p.D1821D;	7.82210458220649E-4	0.09
18	21474872	T	G	18	23894908	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.T5463G:p.D1821E;LAMA3:NM_001127718:exon7:c.T636G:p.D212E;LAMA3:NM_001127717:exon44:c.T5463G:p.D1821E;LAMA3:NM_000227:exon7:c.T636G:p.D212E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.T636G:p.D212E;ENSG00000053747:ENST00000587184:exon7:c.T636G:p.D212E;ENSG00000053747:ENST00000399516:exon44:c.T5463G:p.D1821E;ENSG00000053747:ENST00000313654:exon44:c.T5463G:p.D1821E;	1.29752485110719E-4	0.15
18	21475020	A	C	18	23895056	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon44:c.A5611C:p.R1871R;LAMA3:NM_001127718:exon7:c.A784C:p.R262R;LAMA3:NM_001127717:exon44:c.A5611C:p.R1871R;LAMA3:NM_000227:exon7:c.A784C:p.R262R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.A784C:p.R262R;ENSG00000053747:ENST00000587184:exon7:c.A784C:p.R262R;ENSG00000053747:ENST00000399516:exon44:c.A5611C:p.R1871R;ENSG00000053747:ENST00000313654:exon44:c.A5611C:p.R1871R;	5.41691707503332E-5	0.002
18	21475020	A	G	18	23895056	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.A5611G:p.R1871G;LAMA3:NM_001127718:exon7:c.A784G:p.R262G;LAMA3:NM_001127717:exon44:c.A5611G:p.R1871G;LAMA3:NM_000227:exon7:c.A784G:p.R262G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.A784G:p.R262G;ENSG00000053747:ENST00000587184:exon7:c.A784G:p.R262G;ENSG00000053747:ENST00000399516:exon44:c.A5611G:p.R1871G;ENSG00000053747:ENST00000313654:exon44:c.A5611G:p.R1871G;	0.00340545330913852	0.218
18	21475020	A	T	18	23895056	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.A5611T:p.R1871W;LAMA3:NM_001127718:exon7:c.A784T:p.R262W;LAMA3:NM_001127717:exon44:c.A5611T:p.R1871W;LAMA3:NM_000227:exon7:c.A784T:p.R262W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.A784T:p.R262W;ENSG00000053747:ENST00000587184:exon7:c.A784T:p.R262W;ENSG00000053747:ENST00000399516:exon44:c.A5611T:p.R1871W;ENSG00000053747:ENST00000313654:exon44:c.A5611T:p.R1871W;	0.234076648112201	0.494
18	21475021	G	A	18	23895057	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.G5612A:p.R1871K;LAMA3:NM_001127718:exon7:c.G785A:p.R262K;LAMA3:NM_001127717:exon44:c.G5612A:p.R1871K;LAMA3:NM_000227:exon7:c.G785A:p.R262K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.G785A:p.R262K;ENSG00000053747:ENST00000587184:exon7:c.G785A:p.R262K;ENSG00000053747:ENST00000399516:exon44:c.G5612A:p.R1871K;ENSG00000053747:ENST00000313654:exon44:c.G5612A:p.R1871K;	0.00114398609389798	0.096
18	21475021	G	C	18	23895057	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.G5612C:p.R1871T;LAMA3:NM_001127718:exon7:c.G785C:p.R262T;LAMA3:NM_001127717:exon44:c.G5612C:p.R1871T;LAMA3:NM_000227:exon7:c.G785C:p.R262T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.G785C:p.R262T;ENSG00000053747:ENST00000587184:exon7:c.G785C:p.R262T;ENSG00000053747:ENST00000399516:exon44:c.G5612C:p.R1871T;ENSG00000053747:ENST00000313654:exon44:c.G5612C:p.R1871T;	0.717543727902189	0.63
18	21475021	G	T	18	23895057	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.G5612T:p.R1871M;LAMA3:NM_001127718:exon7:c.G785T:p.R262M;LAMA3:NM_001127717:exon44:c.G5612T:p.R1871M;LAMA3:NM_000227:exon7:c.G785T:p.R262M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.G785T:p.R262M;ENSG00000053747:ENST00000587184:exon7:c.G785T:p.R262M;ENSG00000053747:ENST00000399516:exon44:c.G5612T:p.R1871M;ENSG00000053747:ENST00000313654:exon44:c.G5612T:p.R1871M;	0.455250262179877	0.458
18	21475022	G	A	18	23895058	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon44:c.G5613A:p.R1871R;LAMA3:NM_001127718:exon7:c.G786A:p.R262R;LAMA3:NM_001127717:exon44:c.G5613A:p.R1871R;LAMA3:NM_000227:exon7:c.G786A:p.R262R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.G786A:p.R262R;ENSG00000053747:ENST00000587184:exon7:c.G786A:p.R262R;ENSG00000053747:ENST00000399516:exon44:c.G5613A:p.R1871R;ENSG00000053747:ENST00000313654:exon44:c.G5613A:p.R1871R;	0.999986803203217	1.0
18	21475022	G	C	18	23895058	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.G5613C:p.R1871S;LAMA3:NM_001127718:exon7:c.G786C:p.R262S;LAMA3:NM_001127717:exon44:c.G5613C:p.R1871S;LAMA3:NM_000227:exon7:c.G786C:p.R262S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.G786C:p.R262S;ENSG00000053747:ENST00000587184:exon7:c.G786C:p.R262S;ENSG00000053747:ENST00000399516:exon44:c.G5613C:p.R1871S;ENSG00000053747:ENST00000313654:exon44:c.G5613C:p.R1871S;	0.999995163089144	0.994
18	21475022	G	T	18	23895058	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon44:c.G5613T:p.R1871S;LAMA3:NM_001127718:exon7:c.G786T:p.R262S;LAMA3:NM_001127717:exon44:c.G5613T:p.R1871S;LAMA3:NM_000227:exon7:c.G786T:p.R262S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon7:c.G786T:p.R262S;ENSG00000053747:ENST00000587184:exon7:c.G786T:p.R262S;ENSG00000053747:ENST00000399516:exon44:c.G5613T:p.R1871S;ENSG00000053747:ENST00000313654:exon44:c.G5613T:p.R1871S;	0.999990999112172	0.998
18	21475023	G	A	18	23895059	y	y	splicing	LAMA3(NM_001127717:exon44:c.5613+1G>A;NM_198129:exon44:c.5613+1G>A;NM_001127718:exon7:c.786+1G>A;NM_000227:exon7:c.786+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5613+1G>A;ENST00000399516:exon44:c.5613+1G>A;ENST00000269217:exon7:c.786+1G>A;ENST00000587184:exon7:c.786+1G>A;ENST00000586751:exon4:c.391+1G>A)	.	.	0.999990361384395	0.938
18	21475023	G	C	18	23895059	y	y	splicing	LAMA3(NM_001127717:exon44:c.5613+1G>C;NM_198129:exon44:c.5613+1G>C;NM_001127718:exon7:c.786+1G>C;NM_000227:exon7:c.786+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5613+1G>C;ENST00000399516:exon44:c.5613+1G>C;ENST00000269217:exon7:c.786+1G>C;ENST00000587184:exon7:c.786+1G>C;ENST00000586751:exon4:c.391+1G>C)	.	.	0.999990361384395	0.938
18	21475023	G	T	18	23895059	y	y	splicing	LAMA3(NM_001127717:exon44:c.5613+1G>T;NM_198129:exon44:c.5613+1G>T;NM_001127718:exon7:c.786+1G>T;NM_000227:exon7:c.786+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5613+1G>T;ENST00000399516:exon44:c.5613+1G>T;ENST00000269217:exon7:c.786+1G>T;ENST00000587184:exon7:c.786+1G>T;ENST00000586751:exon4:c.391+1G>T)	.	.	0.999990361384395	0.938
18	21475024	T	A	18	23895060	y	y	splicing	LAMA3(NM_001127717:exon44:c.5613+2T>A;NM_198129:exon44:c.5613+2T>A;NM_001127718:exon7:c.786+2T>A;NM_000227:exon7:c.786+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5613+2T>A;ENST00000399516:exon44:c.5613+2T>A;ENST00000269217:exon7:c.786+2T>A;ENST00000587184:exon7:c.786+2T>A;ENST00000586751:exon4:c.391+2T>A)	.	.	0.999988247793601	0.932
18	21475024	T	C	18	23895060	y	y	splicing	LAMA3(NM_001127717:exon44:c.5613+2T>C;NM_198129:exon44:c.5613+2T>C;NM_001127718:exon7:c.786+2T>C;NM_000227:exon7:c.786+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5613+2T>C;ENST00000399516:exon44:c.5613+2T>C;ENST00000269217:exon7:c.786+2T>C;ENST00000587184:exon7:c.786+2T>C;ENST00000586751:exon4:c.391+2T>C)	.	.	0.99231226973403	0.684
18	21475024	T	G	18	23895060	y	y	splicing	LAMA3(NM_001127717:exon44:c.5613+2T>G;NM_198129:exon44:c.5613+2T>G;NM_001127718:exon7:c.786+2T>G;NM_000227:exon7:c.786+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon44:c.5613+2T>G;ENST00000399516:exon44:c.5613+2T>G;ENST00000269217:exon7:c.786+2T>G;ENST00000587184:exon7:c.786+2T>G;ENST00000586751:exon4:c.391+2T>G)	.	.	0.999988247793601	0.93
18	21475025	A	C	18	23895061	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999510712287533	0.848
18	21475025	A	G	18	23895061	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.8229527824027	0.682
18	21475025	A	T	18	23895061	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999510712287533	0.846
18	21475026	A	C	18	23895062	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.96889965661859	0.562
18	21475026	A	G	18	23895062	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.974548692229964	0.778
18	21475026	A	T	18	23895062	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.841359511013451	0.61
18	21475027	A	C	18	23895063	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.28953916047412E-4	0.036
18	21475027	A	G	18	23895063	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.44503772447461E-5	0.072
18	21475027	A	T	18	23895063	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.19155654849845E-5	0.008
18	21475028	T	A	18	23895064	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.332586082066462	0.402
18	21475028	T	C	18	23895064	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.275899095507618	0.454
18	21475028	T	G	18	23895064	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0116709131479047	0.3
18	21475029	C	A	18	23895065	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.76909646041071E-5	0.006
18	21475029	C	G	18	23895065	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20726981629067E-4	0.014
18	21475029	C	T	18	23895065	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.56499236115688E-5	0.012
18	21475030	C	A	18	23895066	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.39462846848389E-4	0.012
18	21475030	C	G	18	23895066	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.68969574366537E-4	0.014
18	21475030	C	T	18	23895066	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.39462846848389E-4	0.014
18	21478690	T	A	18	23898726	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0653785058542895	0.302
18	21478690	T	C	18	23898726	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.85992130151009E-4	0.012
18	21478690	T	G	18	23898726	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0281362487309057	0.306
18	21478691	T	A	18	23898727	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.535239899808643	0.596
18	21478691	T	C	18	23898727	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00344872592251833	0.118
18	21478691	T	G	18	23898727	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.701983021637957	0.534
18	21478692	T	A	18	23898728	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0385994647205663	0.392
18	21478692	T	C	18	23898728	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0010804411652362	0.08
18	21478692	T	G	18	23898728	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0313657987358906	0.364
18	21478693	T	A	18	23898729	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999522606077324	0.928
18	21478693	T	C	18	23898729	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.3300435771424E-5	0.012
18	21478693	T	G	18	23898729	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00531229476457736	0.096
18	21478694	G	A	18	23898730	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.59925294620993E-5	0.0
18	21478694	G	C	18	23898730	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.02739642619877E-6	0.0
18	21478694	G	T	18	23898730	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.52754785826012E-6	0.0
18	21478695	T	A	18	23898731	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0118418733181828	0.344
18	21478695	T	C	18	23898731	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.77450342991549E-5	0.046
18	21478695	T	G	18	23898731	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00625099430571206	0.24
18	21478696	T	A	18	23898732	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.462108029067081	0.428
18	21478696	T	C	18	23898732	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.60110068082461E-4	0.05
18	21478696	T	G	18	23898732	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.4106287260811	0.426
18	21478697	T	A	18	23898733	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.46147753977432	0.382
18	21478697	T	C	18	23898733	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0205473431899133	0.162
18	21478697	T	G	18	23898733	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.803138026634709	0.404
18	21478698	C	A	18	23898734	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.98538963591098E-5	0.0
18	21478698	C	G	18	23898734	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17221035905456E-4	0.002
18	21478698	C	T	18	23898734	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58513532853951E-5	0.0
18	21478699	C	A	18	23898735	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.940766050142502	0.66
18	21478699	C	G	18	23898735	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99462891211191	0.782
18	21478699	C	T	18	23898735	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00280162933630771	0.154
18	21478700	A	C	18	23898736	y	y	splicing	LAMA3(NM_001127717:exon45:c.5614-2A>C;NM_198129:exon45:c.5614-2A>C;NM_001127718:exon8:c.787-2A>C;NM_000227:exon8:c.787-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5614-2A>C;ENST00000399516:exon45:c.5614-2A>C;ENST00000269217:exon8:c.787-2A>C;ENST00000587184:exon8:c.787-2A>C;ENST00000586751:exon5:c.392-2A>C)	.	.	0.999946188727699	0.916
18	21478700	A	G	18	23898736	y	y	splicing	LAMA3(NM_001127717:exon45:c.5614-2A>G;NM_198129:exon45:c.5614-2A>G;NM_001127718:exon8:c.787-2A>G;NM_000227:exon8:c.787-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5614-2A>G;ENST00000399516:exon45:c.5614-2A>G;ENST00000269217:exon8:c.787-2A>G;ENST00000587184:exon8:c.787-2A>G;ENST00000586751:exon5:c.392-2A>G)	.	.	0.999946188727699	0.93
18	21478700	A	T	18	23898736	y	y	splicing	LAMA3(NM_001127717:exon45:c.5614-2A>T;NM_198129:exon45:c.5614-2A>T;NM_001127718:exon8:c.787-2A>T;NM_000227:exon8:c.787-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5614-2A>T;ENST00000399516:exon45:c.5614-2A>T;ENST00000269217:exon8:c.787-2A>T;ENST00000587184:exon8:c.787-2A>T;ENST00000586751:exon5:c.392-2A>T)	.	.	0.999946188727699	0.944
18	21478701	G	A	18	23898737	y	y	splicing	LAMA3(NM_001127717:exon45:c.5614-1G>A;NM_198129:exon45:c.5614-1G>A;NM_001127718:exon8:c.787-1G>A;NM_000227:exon8:c.787-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5614-1G>A;ENST00000399516:exon45:c.5614-1G>A;ENST00000269217:exon8:c.787-1G>A;ENST00000587184:exon8:c.787-1G>A;ENST00000586751:exon5:c.392-1G>A)	.	.	0.999971209564868	0.936
18	21478701	G	C	18	23898737	y	y	splicing	LAMA3(NM_001127717:exon45:c.5614-1G>C;NM_198129:exon45:c.5614-1G>C;NM_001127718:exon8:c.787-1G>C;NM_000227:exon8:c.787-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5614-1G>C;ENST00000399516:exon45:c.5614-1G>C;ENST00000269217:exon8:c.787-1G>C;ENST00000587184:exon8:c.787-1G>C;ENST00000586751:exon5:c.392-1G>C)	.	.	0.999960597114489	0.908
18	21478701	G	T	18	23898737	y	y	splicing	LAMA3(NM_001127717:exon45:c.5614-1G>T;NM_198129:exon45:c.5614-1G>T;NM_001127718:exon8:c.787-1G>T;NM_000227:exon8:c.787-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5614-1G>T;ENST00000399516:exon45:c.5614-1G>T;ENST00000269217:exon8:c.787-1G>T;ENST00000587184:exon8:c.787-1G>T;ENST00000586751:exon5:c.392-1G>T)	.	.	0.999970205305079	0.926
18	21478702	A	C	18	23898738	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5614C:p.N1872H;LAMA3:NM_001127718:exon8:c.A787C:p.N263H;LAMA3:NM_001127717:exon45:c.A5614C:p.N1872H;LAMA3:NM_000227:exon8:c.A787C:p.N263H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A787C:p.N263H;ENSG00000053747:ENST00000587184:exon8:c.A787C:p.N263H;ENSG00000053747:ENST00000399516:exon45:c.A5614C:p.N1872H;ENSG00000053747:ENST00000313654:exon45:c.A5614C:p.N1872H;	0.149876369122076	0.266
18	21478702	A	G	18	23898738	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5614G:p.N1872D;LAMA3:NM_001127718:exon8:c.A787G:p.N263D;LAMA3:NM_001127717:exon45:c.A5614G:p.N1872D;LAMA3:NM_000227:exon8:c.A787G:p.N263D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A787G:p.N263D;ENSG00000053747:ENST00000587184:exon8:c.A787G:p.N263D;ENSG00000053747:ENST00000399516:exon45:c.A5614G:p.N1872D;ENSG00000053747:ENST00000313654:exon45:c.A5614G:p.N1872D;	0.00141761632143163	0.016
18	21478702	A	T	18	23898738	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5614T:p.N1872Y;LAMA3:NM_001127718:exon8:c.A787T:p.N263Y;LAMA3:NM_001127717:exon45:c.A5614T:p.N1872Y;LAMA3:NM_000227:exon8:c.A787T:p.N263Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A787T:p.N263Y;ENSG00000053747:ENST00000587184:exon8:c.A787T:p.N263Y;ENSG00000053747:ENST00000399516:exon45:c.A5614T:p.N1872Y;ENSG00000053747:ENST00000313654:exon45:c.A5614T:p.N1872Y;	0.167128883216225	0.28
18	21478703	A	C	18	23898739	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5615C:p.N1872T;LAMA3:NM_001127718:exon8:c.A788C:p.N263T;LAMA3:NM_001127717:exon45:c.A5615C:p.N1872T;LAMA3:NM_000227:exon8:c.A788C:p.N263T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A788C:p.N263T;ENSG00000053747:ENST00000587184:exon8:c.A788C:p.N263T;ENSG00000053747:ENST00000399516:exon45:c.A5615C:p.N1872T;ENSG00000053747:ENST00000313654:exon45:c.A5615C:p.N1872T;	0.00152980203586624	0.07
18	21478703	A	G	18	23898739	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5615G:p.N1872S;LAMA3:NM_001127718:exon8:c.A788G:p.N263S;LAMA3:NM_001127717:exon45:c.A5615G:p.N1872S;LAMA3:NM_000227:exon8:c.A788G:p.N263S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A788G:p.N263S;ENSG00000053747:ENST00000587184:exon8:c.A788G:p.N263S;ENSG00000053747:ENST00000399516:exon45:c.A5615G:p.N1872S;ENSG00000053747:ENST00000313654:exon45:c.A5615G:p.N1872S;	1.83837817980387E-4	0.012
18	21478703	A	T	18	23898739	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5615T:p.N1872I;LAMA3:NM_001127718:exon8:c.A788T:p.N263I;LAMA3:NM_001127717:exon45:c.A5615T:p.N1872I;LAMA3:NM_000227:exon8:c.A788T:p.N263I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A788T:p.N263I;ENSG00000053747:ENST00000587184:exon8:c.A788T:p.N263I;ENSG00000053747:ENST00000399516:exon45:c.A5615T:p.N1872I;ENSG00000053747:ENST00000313654:exon45:c.A5615T:p.N1872I;	0.00114012771976916	0.002
18	21478810	A	C	18	23898846	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5722C:p.K1908Q;LAMA3:NM_001127718:exon8:c.A895C:p.K299Q;LAMA3:NM_001127717:exon45:c.A5722C:p.K1908Q;LAMA3:NM_000227:exon8:c.A895C:p.K299Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A895C:p.K299Q;ENSG00000053747:ENST00000587184:exon8:c.A895C:p.K299Q;ENSG00000053747:ENST00000399516:exon45:c.A5722C:p.K1908Q;ENSG00000053747:ENST00000313654:exon45:c.A5722C:p.K1908Q;	0.924132916810335	0.794
18	21478810	A	G	18	23898846	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5722G:p.K1908E;LAMA3:NM_001127718:exon8:c.A895G:p.K299E;LAMA3:NM_001127717:exon45:c.A5722G:p.K1908E;LAMA3:NM_000227:exon8:c.A895G:p.K299E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A895G:p.K299E;ENSG00000053747:ENST00000587184:exon8:c.A895G:p.K299E;ENSG00000053747:ENST00000399516:exon45:c.A5722G:p.K1908E;ENSG00000053747:ENST00000313654:exon45:c.A5722G:p.K1908E;	0.471048135807695	0.502
18	21478810	A	T	18	23898846	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon45:c.A5722T:p.K1908X;LAMA3:NM_001127718:exon8:c.A895T:p.K299X;LAMA3:NM_001127717:exon45:c.A5722T:p.K1908X;LAMA3:NM_000227:exon8:c.A895T:p.K299X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon8:c.A895T:p.K299X;ENSG00000053747:ENST00000587184:exon8:c.A895T:p.K299X;ENSG00000053747:ENST00000399516:exon45:c.A5722T:p.K1908X;ENSG00000053747:ENST00000313654:exon45:c.A5722T:p.K1908X;	0.998704428684511	0.786
18	21478811	A	C	18	23898847	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5723C:p.K1908T;LAMA3:NM_001127718:exon8:c.A896C:p.K299T;LAMA3:NM_001127717:exon45:c.A5723C:p.K1908T;LAMA3:NM_000227:exon8:c.A896C:p.K299T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A896C:p.K299T;ENSG00000053747:ENST00000587184:exon8:c.A896C:p.K299T;ENSG00000053747:ENST00000399516:exon45:c.A5723C:p.K1908T;ENSG00000053747:ENST00000313654:exon45:c.A5723C:p.K1908T;	0.999789976994355	0.996
18	21478811	A	G	18	23898847	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5723G:p.K1908R;LAMA3:NM_001127718:exon8:c.A896G:p.K299R;LAMA3:NM_001127717:exon45:c.A5723G:p.K1908R;LAMA3:NM_000227:exon8:c.A896G:p.K299R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A896G:p.K299R;ENSG00000053747:ENST00000587184:exon8:c.A896G:p.K299R;ENSG00000053747:ENST00000399516:exon45:c.A5723G:p.K1908R;ENSG00000053747:ENST00000313654:exon45:c.A5723G:p.K1908R;	0.999893069089357	0.962
18	21478811	A	T	18	23898847	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.A5723T:p.K1908M;LAMA3:NM_001127718:exon8:c.A896T:p.K299M;LAMA3:NM_001127717:exon45:c.A5723T:p.K1908M;LAMA3:NM_000227:exon8:c.A896T:p.K299M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.A896T:p.K299M;ENSG00000053747:ENST00000587184:exon8:c.A896T:p.K299M;ENSG00000053747:ENST00000399516:exon45:c.A5723T:p.K1908M;ENSG00000053747:ENST00000313654:exon45:c.A5723T:p.K1908M;	0.999896910540878	1.0
18	21478812	G	A	18	23898848	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon45:c.G5724A:p.K1908K;LAMA3:NM_001127718:exon8:c.G897A:p.K299K;LAMA3:NM_001127717:exon45:c.G5724A:p.K1908K;LAMA3:NM_000227:exon8:c.G897A:p.K299K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.G897A:p.K299K;ENSG00000053747:ENST00000587184:exon8:c.G897A:p.K299K;ENSG00000053747:ENST00000399516:exon45:c.G5724A:p.K1908K;ENSG00000053747:ENST00000313654:exon45:c.G5724A:p.K1908K;	0.999974948374755	0.996
18	21478812	G	C	18	23898848	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.G5724C:p.K1908N;LAMA3:NM_001127718:exon8:c.G897C:p.K299N;LAMA3:NM_001127717:exon45:c.G5724C:p.K1908N;LAMA3:NM_000227:exon8:c.G897C:p.K299N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.G897C:p.K299N;ENSG00000053747:ENST00000587184:exon8:c.G897C:p.K299N;ENSG00000053747:ENST00000399516:exon45:c.G5724C:p.K1908N;ENSG00000053747:ENST00000313654:exon45:c.G5724C:p.K1908N;	0.999997178488777	0.992
18	21478812	G	T	18	23898848	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon45:c.G5724T:p.K1908N;LAMA3:NM_001127718:exon8:c.G897T:p.K299N;LAMA3:NM_001127717:exon45:c.G5724T:p.K1908N;LAMA3:NM_000227:exon8:c.G897T:p.K299N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon8:c.G897T:p.K299N;ENSG00000053747:ENST00000587184:exon8:c.G897T:p.K299N;ENSG00000053747:ENST00000399516:exon45:c.G5724T:p.K1908N;ENSG00000053747:ENST00000313654:exon45:c.G5724T:p.K1908N;	0.999993018555097	0.982
18	21478813	G	A	18	23898849	y	y	splicing	LAMA3(NM_001127717:exon45:c.5724+1G>A;NM_198129:exon45:c.5724+1G>A;NM_001127718:exon8:c.897+1G>A;NM_000227:exon8:c.897+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5724+1G>A;ENST00000399516:exon45:c.5724+1G>A;ENST00000269217:exon8:c.897+1G>A;ENST00000587184:exon8:c.897+1G>A;ENST00000586751:exon5:c.502+1G>A)	.	.	0.999990361384395	0.936
18	21478813	G	C	18	23898849	y	y	splicing	LAMA3(NM_001127717:exon45:c.5724+1G>C;NM_198129:exon45:c.5724+1G>C;NM_001127718:exon8:c.897+1G>C;NM_000227:exon8:c.897+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5724+1G>C;ENST00000399516:exon45:c.5724+1G>C;ENST00000269217:exon8:c.897+1G>C;ENST00000587184:exon8:c.897+1G>C;ENST00000586751:exon5:c.502+1G>C)	.	.	0.999990361384395	0.936
18	21478813	G	T	18	23898849	y	y	splicing	LAMA3(NM_001127717:exon45:c.5724+1G>T;NM_198129:exon45:c.5724+1G>T;NM_001127718:exon8:c.897+1G>T;NM_000227:exon8:c.897+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5724+1G>T;ENST00000399516:exon45:c.5724+1G>T;ENST00000269217:exon8:c.897+1G>T;ENST00000587184:exon8:c.897+1G>T;ENST00000586751:exon5:c.502+1G>T)	.	.	0.999990361384395	0.936
18	21478814	T	A	18	23898850	y	y	splicing	LAMA3(NM_001127717:exon45:c.5724+2T>A;NM_198129:exon45:c.5724+2T>A;NM_001127718:exon8:c.897+2T>A;NM_000227:exon8:c.897+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5724+2T>A;ENST00000399516:exon45:c.5724+2T>A;ENST00000269217:exon8:c.897+2T>A;ENST00000587184:exon8:c.897+2T>A;ENST00000586751:exon5:c.502+2T>A)	.	.	0.999978952611685	0.93
18	21478814	T	C	18	23898850	y	y	splicing	LAMA3(NM_001127717:exon45:c.5724+2T>C;NM_198129:exon45:c.5724+2T>C;NM_001127718:exon8:c.897+2T>C;NM_000227:exon8:c.897+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5724+2T>C;ENST00000399516:exon45:c.5724+2T>C;ENST00000269217:exon8:c.897+2T>C;ENST00000587184:exon8:c.897+2T>C;ENST00000586751:exon5:c.502+2T>C)	.	.	0.989418514076609	0.724
18	21478814	T	G	18	23898850	y	y	splicing	LAMA3(NM_001127717:exon45:c.5724+2T>G;NM_198129:exon45:c.5724+2T>G;NM_001127718:exon8:c.897+2T>G;NM_000227:exon8:c.897+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon45:c.5724+2T>G;ENST00000399516:exon45:c.5724+2T>G;ENST00000269217:exon8:c.897+2T>G;ENST00000587184:exon8:c.897+2T>G;ENST00000586751:exon5:c.502+2T>G)	.	.	0.99994568797423	0.928
18	21478815	A	C	18	23898851	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999862593429258	0.928
18	21478815	A	G	18	23898851	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993170600431118	0.586
18	21478815	A	T	18	23898851	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999577165288613	0.92
18	21478816	A	C	18	23898852	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0246382041535403	0.358
18	21478816	A	G	18	23898852	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.611807556766073	0.522
18	21478816	A	T	18	23898852	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.128325163478572	0.386
18	21478817	T	A	18	23898853	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.61491457240177E-5	0.106
18	21478817	T	C	18	23898853	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.07447845475965E-5	0.098
18	21478817	T	G	18	23898853	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.86747823455886E-5	0.028
18	21478818	G	A	18	23898854	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.5232164652619E-5	0.002
18	21478818	G	C	18	23898854	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.90713951967521E-4	0.208
18	21478818	G	T	18	23898854	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17970545718731E-5	0.026
18	21478819	T	A	18	23898855	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.99513758531303E-5	0.0
18	21478819	T	C	18	23898855	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.1322721539568E-5	0.0
18	21478819	T	G	18	23898855	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.63622826368595E-5	0.002
18	21478820	G	A	18	23898856	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.25270396019138E-5	0.008
18	21478820	G	C	18	23898856	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45780287636369E-4	0.038
18	21478820	G	T	18	23898856	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.97102263280987E-5	0.008
18	21478906	T	A	18	23898942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0802244856531957	0.504
18	21478906	T	C	18	23898942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.53295920864688E-4	0.028
18	21478906	T	G	18	23898942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999293616974885	0.94
18	21478907	T	A	18	23898943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0817567571730724	0.436
18	21478907	T	C	18	23898943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.52132702920393E-4	0.09
18	21478907	T	G	18	23898943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0699787981727472	0.41
18	21478908	T	A	18	23898944	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0348990716841271	0.326
18	21478908	T	C	18	23898944	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.93290673467696E-5	0.0
18	21478908	T	G	18	23898944	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0387776453436106	0.356
18	21478909	T	A	18	23898945	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.027892845332157	0.422
18	21478909	T	C	18	23898945	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.45936831249375E-4	0.03
18	21478909	T	G	18	23898945	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0699243856593661	0.478
18	21478910	T	A	18	23898946	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0256926407887503	0.276
18	21478910	T	C	18	23898946	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.82743140052969E-5	0.002
18	21478910	T	G	18	23898946	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.040727732424223	0.378
18	21478911	C	A	18	23898947	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00149224714432805	0.116
18	21478911	C	G	18	23898947	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.35308664681845E-4	0.106
18	21478911	C	T	18	23898947	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.07946081136518E-5	0.002
18	21478912	A	C	18	23898948	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.07752729357943E-5	0.0
18	21478912	A	G	18	23898948	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.01072867714708E-5	0.01
18	21478912	A	T	18	23898948	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.87859526351692E-5	0.0
18	21478913	T	A	18	23898949	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0943954618065161	0.458
18	21478913	T	C	18	23898949	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.11414369615848E-4	0.006
18	21478913	T	G	18	23898949	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999935645246188	0.96
18	21478914	A	C	18	23898950	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.28992935964523E-5	0.0
18	21478914	A	G	18	23898950	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.23908202294928E-5	0.0
18	21478914	A	T	18	23898950	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.06805330558528E-5	0.0
18	21478915	T	A	18	23898951	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.287657621318809	0.342
18	21478915	T	C	18	23898951	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.55493232493585E-4	0.04
18	21478915	T	G	18	23898951	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997553419530589	0.696
18	21478916	A	C	18	23898952	y	y	splicing	LAMA3(NM_001127717:exon46:c.5725-2A>C;NM_198129:exon46:c.5725-2A>C;NM_001127718:exon9:c.898-2A>C;NM_000227:exon9:c.898-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5725-2A>C;ENST00000399516:exon46:c.5725-2A>C;ENST00000269217:exon9:c.898-2A>C;ENST00000587184:exon9:c.898-2A>C;ENST00000586751:exon6:c.503-2A>C)	.	.	0.999988247793601	0.926
18	21478916	A	G	18	23898952	y	y	splicing	LAMA3(NM_001127717:exon46:c.5725-2A>G;NM_198129:exon46:c.5725-2A>G;NM_001127718:exon9:c.898-2A>G;NM_000227:exon9:c.898-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5725-2A>G;ENST00000399516:exon46:c.5725-2A>G;ENST00000269217:exon9:c.898-2A>G;ENST00000587184:exon9:c.898-2A>G;ENST00000586751:exon6:c.503-2A>G)	.	.	0.999988247793601	0.926
18	21478916	A	T	18	23898952	y	y	splicing	LAMA3(NM_001127717:exon46:c.5725-2A>T;NM_198129:exon46:c.5725-2A>T;NM_001127718:exon9:c.898-2A>T;NM_000227:exon9:c.898-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5725-2A>T;ENST00000399516:exon46:c.5725-2A>T;ENST00000269217:exon9:c.898-2A>T;ENST00000587184:exon9:c.898-2A>T;ENST00000586751:exon6:c.503-2A>T)	.	.	0.999988247793601	0.876
18	21478917	G	A	18	23898953	y	y	splicing	LAMA3(NM_001127717:exon46:c.5725-1G>A;NM_198129:exon46:c.5725-1G>A;NM_001127718:exon9:c.898-1G>A;NM_000227:exon9:c.898-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5725-1G>A;ENST00000399516:exon46:c.5725-1G>A;ENST00000269217:exon9:c.898-1G>A;ENST00000587184:exon9:c.898-1G>A;ENST00000586751:exon6:c.503-1G>A)	.	.	0.999990361384395	0.936
18	21478917	G	C	18	23898953	y	y	splicing	LAMA3(NM_001127717:exon46:c.5725-1G>C;NM_198129:exon46:c.5725-1G>C;NM_001127718:exon9:c.898-1G>C;NM_000227:exon9:c.898-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5725-1G>C;ENST00000399516:exon46:c.5725-1G>C;ENST00000269217:exon9:c.898-1G>C;ENST00000587184:exon9:c.898-1G>C;ENST00000586751:exon6:c.503-1G>C)	.	.	0.999990361384395	0.938
18	21478917	G	T	18	23898953	y	y	splicing	LAMA3(NM_001127717:exon46:c.5725-1G>T;NM_198129:exon46:c.5725-1G>T;NM_001127718:exon9:c.898-1G>T;NM_000227:exon9:c.898-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5725-1G>T;ENST00000399516:exon46:c.5725-1G>T;ENST00000269217:exon9:c.898-1G>T;ENST00000587184:exon9:c.898-1G>T;ENST00000586751:exon6:c.503-1G>T)	.	.	0.999990361384395	0.936
18	21478918	G	A	18	23898954	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.G5725A:p.A1909T;LAMA3:NM_001127718:exon9:c.G898A:p.A300T;LAMA3:NM_001127717:exon46:c.G5725A:p.A1909T;LAMA3:NM_000227:exon9:c.G898A:p.A300T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.G898A:p.A300T;ENSG00000053747:ENST00000587184:exon9:c.G898A:p.A300T;ENSG00000053747:ENST00000399516:exon46:c.G5725A:p.A1909T;ENSG00000053747:ENST00000313654:exon46:c.G5725A:p.A1909T;	0.998947159561098	0.936
18	21478918	G	C	18	23898954	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.G5725C:p.A1909P;LAMA3:NM_001127718:exon9:c.G898C:p.A300P;LAMA3:NM_001127717:exon46:c.G5725C:p.A1909P;LAMA3:NM_000227:exon9:c.G898C:p.A300P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.G898C:p.A300P;ENSG00000053747:ENST00000587184:exon9:c.G898C:p.A300P;ENSG00000053747:ENST00000399516:exon46:c.G5725C:p.A1909P;ENSG00000053747:ENST00000313654:exon46:c.G5725C:p.A1909P;	0.999542927456694	0.972
18	21478918	G	T	18	23898954	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.G5725T:p.A1909S;LAMA3:NM_001127718:exon9:c.G898T:p.A300S;LAMA3:NM_001127717:exon46:c.G5725T:p.A1909S;LAMA3:NM_000227:exon9:c.G898T:p.A300S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.G898T:p.A300S;ENSG00000053747:ENST00000587184:exon9:c.G898T:p.A300S;ENSG00000053747:ENST00000399516:exon46:c.G5725T:p.A1909S;ENSG00000053747:ENST00000313654:exon46:c.G5725T:p.A1909S;	0.999876558338072	0.992
18	21478919	C	A	18	23898955	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.C5726A:p.A1909D;LAMA3:NM_001127718:exon9:c.C899A:p.A300D;LAMA3:NM_001127717:exon46:c.C5726A:p.A1909D;LAMA3:NM_000227:exon9:c.C899A:p.A300D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.C899A:p.A300D;ENSG00000053747:ENST00000587184:exon9:c.C899A:p.A300D;ENSG00000053747:ENST00000399516:exon46:c.C5726A:p.A1909D;ENSG00000053747:ENST00000313654:exon46:c.C5726A:p.A1909D;	0.00306298521705396	0.092
18	21478919	C	G	18	23898955	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.C5726G:p.A1909G;LAMA3:NM_001127718:exon9:c.C899G:p.A300G;LAMA3:NM_001127717:exon46:c.C5726G:p.A1909G;LAMA3:NM_000227:exon9:c.C899G:p.A300G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.C899G:p.A300G;ENSG00000053747:ENST00000587184:exon9:c.C899G:p.A300G;ENSG00000053747:ENST00000399516:exon46:c.C5726G:p.A1909G;ENSG00000053747:ENST00000313654:exon46:c.C5726G:p.A1909G;	0.00561435426338048	0.088
18	21478919	C	T	18	23898955	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.C5726T:p.A1909V;LAMA3:NM_001127718:exon9:c.C899T:p.A300V;LAMA3:NM_001127717:exon46:c.C5726T:p.A1909V;LAMA3:NM_000227:exon9:c.C899T:p.A300V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.C899T:p.A300V;ENSG00000053747:ENST00000587184:exon9:c.C899T:p.A300V;ENSG00000053747:ENST00000399516:exon46:c.C5726T:p.A1909V;ENSG00000053747:ENST00000313654:exon46:c.C5726T:p.A1909V;	2.50977897084381E-4	0.014
18	21479027	A	C	18	23899063	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.A5834C:p.H1945P;LAMA3:NM_001127718:exon9:c.A1007C:p.H336P;LAMA3:NM_001127717:exon46:c.A5834C:p.H1945P;LAMA3:NM_000227:exon9:c.A1007C:p.H336P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.A1007C:p.H336P;ENSG00000053747:ENST00000587184:exon9:c.A1007C:p.H336P;ENSG00000053747:ENST00000399516:exon46:c.A5834C:p.H1945P;ENSG00000053747:ENST00000313654:exon46:c.A5834C:p.H1945P;	0.908008966177615	0.706
18	21479027	A	G	18	23899063	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.A5834G:p.H1945R;LAMA3:NM_001127718:exon9:c.A1007G:p.H336R;LAMA3:NM_001127717:exon46:c.A5834G:p.H1945R;LAMA3:NM_000227:exon9:c.A1007G:p.H336R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.A1007G:p.H336R;ENSG00000053747:ENST00000587184:exon9:c.A1007G:p.H336R;ENSG00000053747:ENST00000399516:exon46:c.A5834G:p.H1945R;ENSG00000053747:ENST00000313654:exon46:c.A5834G:p.H1945R;	0.277829996876153	0.45
18	21479027	A	T	18	23899063	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.A5834T:p.H1945L;LAMA3:NM_001127718:exon9:c.A1007T:p.H336L;LAMA3:NM_001127717:exon46:c.A5834T:p.H1945L;LAMA3:NM_000227:exon9:c.A1007T:p.H336L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.A1007T:p.H336L;ENSG00000053747:ENST00000587184:exon9:c.A1007T:p.H336L;ENSG00000053747:ENST00000399516:exon46:c.A5834T:p.H1945L;ENSG00000053747:ENST00000313654:exon46:c.A5834T:p.H1945L;	0.998651512294782	0.752
18	21479028	C	A	18	23899064	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.C5835A:p.H1945Q;LAMA3:NM_001127718:exon9:c.C1008A:p.H336Q;LAMA3:NM_001127717:exon46:c.C5835A:p.H1945Q;LAMA3:NM_000227:exon9:c.C1008A:p.H336Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.C1008A:p.H336Q;ENSG00000053747:ENST00000587184:exon9:c.C1008A:p.H336Q;ENSG00000053747:ENST00000399516:exon46:c.C5835A:p.H1945Q;ENSG00000053747:ENST00000313654:exon46:c.C5835A:p.H1945Q;	5.5380481772202E-4	0.188
18	21479028	C	G	18	23899064	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.C5835G:p.H1945Q;LAMA3:NM_001127718:exon9:c.C1008G:p.H336Q;LAMA3:NM_001127717:exon46:c.C5835G:p.H1945Q;LAMA3:NM_000227:exon9:c.C1008G:p.H336Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.C1008G:p.H336Q;ENSG00000053747:ENST00000587184:exon9:c.C1008G:p.H336Q;ENSG00000053747:ENST00000399516:exon46:c.C5835G:p.H1945Q;ENSG00000053747:ENST00000313654:exon46:c.C5835G:p.H1945Q;	4.11775386041213E-4	0.03
18	21479028	C	T	18	23899064	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon46:c.C5835T:p.H1945H;LAMA3:NM_001127718:exon9:c.C1008T:p.H336H;LAMA3:NM_001127717:exon46:c.C5835T:p.H1945H;LAMA3:NM_000227:exon9:c.C1008T:p.H336H;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.C1008T:p.H336H;ENSG00000053747:ENST00000587184:exon9:c.C1008T:p.H336H;ENSG00000053747:ENST00000399516:exon46:c.C5835T:p.H1945H;ENSG00000053747:ENST00000313654:exon46:c.C5835T:p.H1945H;	7.75484781058375E-4	0.046
18	21479029	A	C	18	23899065	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.A5836C:p.I1946L;LAMA3:NM_001127718:exon9:c.A1009C:p.M337L;LAMA3:NM_001127717:exon46:c.A5836C:p.M1946L;LAMA3:NM_000227:exon9:c.A1009C:p.I337L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.A1009C:p.I337L;ENSG00000053747:ENST00000587184:exon9:c.A1009C:p.M337L;ENSG00000053747:ENST00000399516:exon46:c.A5836C:p.M1946L;ENSG00000053747:ENST00000313654:exon46:c.A5836C:p.I1946L;	3.04155651570879E-4	0.162
18	21479029	A	G	18	23899065	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.A5836G:p.I1946V;LAMA3:NM_001127718:exon9:c.A1009G:p.M337V;LAMA3:NM_001127717:exon46:c.A5836G:p.M1946V;LAMA3:NM_000227:exon9:c.A1009G:p.I337V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.A1009G:p.I337V;ENSG00000053747:ENST00000587184:exon9:c.A1009G:p.M337V;ENSG00000053747:ENST00000399516:exon46:c.A5836G:p.M1946V;ENSG00000053747:ENST00000313654:exon46:c.A5836G:p.I1946V;	4.63800445607998E-4	0.11
18	21479029	A	T	18	23899065	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon46:c.A5836T:p.I1946F;LAMA3:NM_001127718:exon9:c.A1009T:p.M337L;LAMA3:NM_001127717:exon46:c.A5836T:p.M1946L;LAMA3:NM_000227:exon9:c.A1009T:p.I337F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon9:c.A1009T:p.I337F;ENSG00000053747:ENST00000587184:exon9:c.A1009T:p.M337L;ENSG00000053747:ENST00000399516:exon46:c.A5836T:p.M1946L;ENSG00000053747:ENST00000313654:exon46:c.A5836T:p.I1946F;	0.0054292544265617	0.248
18	21479030	G	A	18	23899066	y	y	splicing	LAMA3(NM_001127717:exon46:c.5836+1G>A;NM_198129:exon46:c.5836+1G>A;NM_001127718:exon9:c.1009+1G>A;NM_000227:exon9:c.1009+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5836+1G>A;ENST00000399516:exon46:c.5836+1G>A;ENST00000269217:exon9:c.1009+1G>A;ENST00000587184:exon9:c.1009+1G>A;ENST00000586751:exon6:c.614+1G>A)	.	.	0.999990361384395	0.952
18	21479030	G	C	18	23899066	y	y	splicing	LAMA3(NM_001127717:exon46:c.5836+1G>C;NM_198129:exon46:c.5836+1G>C;NM_001127718:exon9:c.1009+1G>C;NM_000227:exon9:c.1009+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5836+1G>C;ENST00000399516:exon46:c.5836+1G>C;ENST00000269217:exon9:c.1009+1G>C;ENST00000587184:exon9:c.1009+1G>C;ENST00000586751:exon6:c.614+1G>C)	.	.	0.999990361384395	0.952
18	21479030	G	T	18	23899066	y	y	splicing	LAMA3(NM_001127717:exon46:c.5836+1G>T;NM_198129:exon46:c.5836+1G>T;NM_001127718:exon9:c.1009+1G>T;NM_000227:exon9:c.1009+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5836+1G>T;ENST00000399516:exon46:c.5836+1G>T;ENST00000269217:exon9:c.1009+1G>T;ENST00000587184:exon9:c.1009+1G>T;ENST00000586751:exon6:c.614+1G>T)	.	.	0.999990361384395	0.95
18	21479031	T	A	18	23899067	y	y	splicing	LAMA3(NM_001127717:exon46:c.5836+2T>A;NM_198129:exon46:c.5836+2T>A;NM_001127718:exon9:c.1009+2T>A;NM_000227:exon9:c.1009+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5836+2T>A;ENST00000399516:exon46:c.5836+2T>A;ENST00000269217:exon9:c.1009+2T>A;ENST00000587184:exon9:c.1009+2T>A;ENST00000586751:exon6:c.614+2T>A)	.	.	0.999988247793601	0.954
18	21479031	T	C	18	23899067	y	y	splicing	LAMA3(NM_001127717:exon46:c.5836+2T>C;NM_198129:exon46:c.5836+2T>C;NM_001127718:exon9:c.1009+2T>C;NM_000227:exon9:c.1009+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5836+2T>C;ENST00000399516:exon46:c.5836+2T>C;ENST00000269217:exon9:c.1009+2T>C;ENST00000587184:exon9:c.1009+2T>C;ENST00000586751:exon6:c.614+2T>C)	.	.	0.99991522016916	0.89
18	21479031	T	G	18	23899067	y	y	splicing	LAMA3(NM_001127717:exon46:c.5836+2T>G;NM_198129:exon46:c.5836+2T>G;NM_001127718:exon9:c.1009+2T>G;NM_000227:exon9:c.1009+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon46:c.5836+2T>G;ENST00000399516:exon46:c.5836+2T>G;ENST00000269217:exon9:c.1009+2T>G;ENST00000587184:exon9:c.1009+2T>G;ENST00000586751:exon6:c.614+2T>G)	.	.	0.999988247793601	0.954
18	21479032	A	C	18	23899068	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999702812562992	0.944
18	21479032	A	G	18	23899068	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997671885386329	0.654
18	21479032	A	T	18	23899068	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999650165519237	0.922
18	21479033	A	C	18	23899069	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998300534410124	0.796
18	21479033	A	G	18	23899069	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998497728784136	0.818
18	21479033	A	T	18	23899069	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997634156536485	0.894
18	21479034	G	A	18	23899070	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999967326630994	0.98
18	21479034	G	C	18	23899070	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999992187565376	0.988
18	21479034	G	T	18	23899070	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999989110148433	0.986
18	21479035	A	C	18	23899071	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.49861508403115E-5	0.038
18	21479035	A	G	18	23899071	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.52478226439008E-4	0.058
18	21479035	A	T	18	23899071	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.44567246961622E-5	0.03
18	21479036	A	C	18	23899072	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.64084767037613E-5	0.002
18	21479036	A	G	18	23899072	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.5783760286805E-4	0.0
18	21479036	A	T	18	23899072	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.46821154164951E-4	0.034
18	21479037	G	A	18	23899073	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.38102450473386E-4	0.016
18	21479037	G	C	18	23899073	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.32732376174156E-5	0.022
18	21479037	G	T	18	23899073	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.22066865341437E-5	0.01
18	21479240	G	A	18	23899276	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.34903442050112E-4	0.112
18	21479240	G	C	18	23899276	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.83521702688965E-4	0.004
18	21479240	G	T	18	23899276	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.82423118662634E-4	0.034
18	21479241	A	C	18	23899277	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.05263450638835E-5	0.008
18	21479241	A	G	18	23899277	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.65499724426338E-5	0.002
18	21479241	A	T	18	23899277	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.78617966070291E-4	0.066
18	21479242	T	A	18	23899278	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999964012575107	0.98
18	21479242	T	C	18	23899278	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0159729726509007	0.244
18	21479242	T	G	18	23899278	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999967419831866	0.98
18	21479243	G	A	18	23899279	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00536018395036403	0.04
18	21479243	G	C	18	23899279	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.50645431001956E-5	0.004
18	21479243	G	T	18	23899279	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.20415444595968E-5	0.036
18	21479244	T	A	18	23899280	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998251216733697	0.918
18	21479244	T	C	18	23899280	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00834349543452123	0.168
18	21479244	T	G	18	23899280	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.966170008753534	0.792
18	21479245	T	A	18	23899281	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.861013837985785	0.626
18	21479245	T	C	18	23899281	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00409594814849312	0.118
18	21479245	T	G	18	23899281	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.855735591256069	0.62
18	21479246	T	A	18	23899282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.954700155285543	0.668
18	21479246	T	C	18	23899282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.13872324033637E-4	0.076
18	21479246	T	G	18	23899282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.930621155493379	0.662
18	21479247	C	A	18	23899283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00261047315022041	0.116
18	21479247	C	G	18	23899283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.93294411988003E-4	0.098
18	21479247	C	T	18	23899283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.56526964247093E-5	0.044
18	21479248	C	A	18	23899284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.18844213732933E-4	0.04
18	21479248	C	G	18	23899284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.39314869140023E-4	0.066
18	21479248	C	T	18	23899284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17296157534586E-4	0.056
18	21479249	T	A	18	23899285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.227137521491541	0.454
18	21479249	T	C	18	23899285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.88836434779713E-5	0.062
18	21479249	T	G	18	23899285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.984095121805299	0.646
18	21479250	A	C	18	23899286	y	y	splicing	LAMA3(NM_198129:exon47:c.5837-2A>C;NM_000227:exon10:c.1010-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.5837-2A>C;ENST00000269217:exon10:c.1010-2A>C;ENST00000586751:exon7:c.615-2A>C)	.	.	0.999986607513753	0.94
18	21479250	A	G	18	23899286	y	y	splicing	LAMA3(NM_198129:exon47:c.5837-2A>G;NM_000227:exon10:c.1010-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.5837-2A>G;ENST00000269217:exon10:c.1010-2A>G;ENST00000586751:exon7:c.615-2A>G)	.	.	0.999986607513753	0.934
18	21479250	A	T	18	23899286	y	y	splicing	LAMA3(NM_198129:exon47:c.5837-2A>T;NM_000227:exon10:c.1010-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.5837-2A>T;ENST00000269217:exon10:c.1010-2A>T;ENST00000586751:exon7:c.615-2A>T)	.	.	0.999986607513753	0.942
18	21479251	G	A	18	23899287	y	y	splicing	LAMA3(NM_198129:exon47:c.5837-1G>A;NM_000227:exon10:c.1010-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.5837-1G>A;ENST00000269217:exon10:c.1010-1G>A;ENST00000586751:exon7:c.615-1G>A)	.	.	0.999989263107695	0.958
18	21479251	G	C	18	23899287	y	y	splicing	LAMA3(NM_198129:exon47:c.5837-1G>C;NM_000227:exon10:c.1010-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.5837-1G>C;ENST00000269217:exon10:c.1010-1G>C;ENST00000586751:exon7:c.615-1G>C)	.	.	0.999989263107695	0.958
18	21479251	G	T	18	23899287	y	y	splicing	LAMA3(NM_198129:exon47:c.5837-1G>T;NM_000227:exon10:c.1010-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.5837-1G>T;ENST00000269217:exon10:c.1010-1G>T;ENST00000586751:exon7:c.615-1G>T)	.	.	0.999989263107695	0.958
18	21479252	T	A	18	23899288	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T5837A:p.I1946N;LAMA3:NM_000227:exon10:c.T1010A:p.I337N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1010A:p.I337N;ENSG00000053747:ENST00000313654:exon47:c.T5837A:p.I1946N;	0.0432471054521128	0.394
18	21479252	T	C	18	23899288	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T5837C:p.I1946T;LAMA3:NM_000227:exon10:c.T1010C:p.I337T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1010C:p.I337T;ENSG00000053747:ENST00000313654:exon47:c.T5837C:p.I1946T;	2.28548205705874E-4	0.04
18	21479252	T	G	18	23899288	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T5837G:p.I1946S;LAMA3:NM_000227:exon10:c.T1010G:p.I337S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1010G:p.I337S;ENSG00000053747:ENST00000313654:exon47:c.T5837G:p.I1946S;	0.059838565199874	0.338
18	21479253	T	A	18	23899289	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon47:c.T5838A:p.I1946I;LAMA3:NM_000227:exon10:c.T1011A:p.I337I;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1011A:p.I337I;ENSG00000053747:ENST00000313654:exon47:c.T5838A:p.I1946I;	3.81042720448861E-4	0.12
18	21479253	T	C	18	23899289	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon47:c.T5838C:p.I1946I;LAMA3:NM_000227:exon10:c.T1011C:p.I337I;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1011C:p.I337I;ENSG00000053747:ENST00000313654:exon47:c.T5838C:p.I1946I;	3.13734957513965E-4	0.092
18	21479253	T	G	18	23899289	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T5838G:p.I1946M;LAMA3:NM_000227:exon10:c.T1011G:p.I337M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1011G:p.I337M;ENSG00000053747:ENST00000313654:exon47:c.T5838G:p.I1946M;	1.98385941676351E-4	0.128
18	21479417	T	A	18	23899453	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T6002A:p.L2001H;LAMA3:NM_000227:exon10:c.T1175A:p.L392H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1175A:p.L392H;ENSG00000053747:ENST00000313654:exon47:c.T6002A:p.L2001H;	0.00186731316360226	0.068
18	21479417	T	C	18	23899453	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T6002C:p.L2001P;LAMA3:NM_000227:exon10:c.T1175C:p.L392P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1175C:p.L392P;ENSG00000053747:ENST00000313654:exon47:c.T6002C:p.L2001P;	2.57413702200492E-4	0.034
18	21479417	T	G	18	23899453	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T6002G:p.L2001R;LAMA3:NM_000227:exon10:c.T1175G:p.L392R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1175G:p.L392R;ENSG00000053747:ENST00000313654:exon47:c.T6002G:p.L2001R;	4.15183373127527E-4	0.024
18	21479418	C	A	18	23899454	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon47:c.C6003A:p.L2001L;LAMA3:NM_000227:exon10:c.C1176A:p.L392L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.C1176A:p.L392L;ENSG00000053747:ENST00000313654:exon47:c.C6003A:p.L2001L;	0.0012302830950395	0.228
18	21479418	C	G	18	23899454	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon47:c.C6003G:p.L2001L;LAMA3:NM_000227:exon10:c.C1176G:p.L392L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.C1176G:p.L392L;ENSG00000053747:ENST00000313654:exon47:c.C6003G:p.L2001L;	4.103301420591E-4	0.048
18	21479418	C	T	18	23899454	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon47:c.C6003T:p.L2001L;LAMA3:NM_000227:exon10:c.C1176T:p.L392L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.C1176T:p.L392L;ENSG00000053747:ENST00000313654:exon47:c.C6003T:p.L2001L;	0.00229283019960334	0.018
18	21479419	T	A	18	23899455	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T6004A:p.L2002M;LAMA3:NM_000227:exon10:c.T1177A:p.L393M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1177A:p.L393M;ENSG00000053747:ENST00000313654:exon47:c.T6004A:p.L2002M;	2.88049621958852E-4	0.174
18	21479419	T	C	18	23899455	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon47:c.T6004C:p.L2002L;LAMA3:NM_000227:exon10:c.T1177C:p.L393L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1177C:p.L393L;ENSG00000053747:ENST00000313654:exon47:c.T6004C:p.L2002L;	1.05635708789146E-4	0.31
18	21479419	T	G	18	23899455	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon47:c.T6004G:p.L2002V;LAMA3:NM_000227:exon10:c.T1177G:p.L393V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon10:c.T1177G:p.L393V;ENSG00000053747:ENST00000313654:exon47:c.T6004G:p.L2002V;	2.03436889550106E-4	0.394
18	21479420	G	A	18	23899456	y	y	splicing	LAMA3(NM_198129:exon47:c.6004+1G>A;NM_000227:exon10:c.1177+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.6004+1G>A;ENST00000269217:exon10:c.1177+1G>A;ENST00000586751:exon7:c.782+1G>A)	.	.	0.999989125585301	0.944
18	21479420	G	C	18	23899456	y	y	splicing	LAMA3(NM_198129:exon47:c.6004+1G>C;NM_000227:exon10:c.1177+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.6004+1G>C;ENST00000269217:exon10:c.1177+1G>C;ENST00000586751:exon7:c.782+1G>C)	.	.	0.999989125585301	0.942
18	21479420	G	T	18	23899456	y	y	splicing	LAMA3(NM_198129:exon47:c.6004+1G>T;NM_000227:exon10:c.1177+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.6004+1G>T;ENST00000269217:exon10:c.1177+1G>T;ENST00000586751:exon7:c.782+1G>T)	.	.	0.999989125585301	0.942
18	21479421	T	A	18	23899457	y	y	splicing	LAMA3(NM_198129:exon47:c.6004+2T>A;NM_000227:exon10:c.1177+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.6004+2T>A;ENST00000269217:exon10:c.1177+2T>A;ENST00000586751:exon7:c.782+2T>A)	.	.	0.999986741007567	0.942
18	21479421	T	C	18	23899457	y	y	splicing	LAMA3(NM_198129:exon47:c.6004+2T>C;NM_000227:exon10:c.1177+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.6004+2T>C;ENST00000269217:exon10:c.1177+2T>C;ENST00000586751:exon7:c.782+2T>C)	.	.	0.999910808964517	0.882
18	21479421	T	G	18	23899457	y	y	splicing	LAMA3(NM_198129:exon47:c.6004+2T>G;NM_000227:exon10:c.1177+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon47:c.6004+2T>G;ENST00000269217:exon10:c.1177+2T>G;ENST00000586751:exon7:c.782+2T>G)	.	.	0.999986741007567	0.942
18	21479422	A	C	18	23899458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999918638228644	0.934
18	21479422	A	G	18	23899458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993283574576002	0.684
18	21479422	A	T	18	23899458	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999893526313395	0.92
18	21479423	A	C	18	23899459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999985462305168	0.892
18	21479423	A	G	18	23899459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999959766229546	0.922
18	21479423	A	T	18	23899459	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999970811776129	0.862
18	21479424	G	A	18	23899460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999977509894275	1.0
18	21479424	G	C	18	23899460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999970827925278	0.988
18	21479424	G	T	18	23899460	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999970827925278	0.972
18	21479425	A	C	18	23899461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45839579473163E-4	0.042
18	21479425	A	G	18	23899461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.66045404494234E-4	0.002
18	21479425	A	T	18	23899461	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.35195421416544E-4	0.024
18	21479426	A	C	18	23899462	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.25836323127624E-4	0.002
18	21479426	A	G	18	23899462	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.66564374377746E-4	0.002
18	21479426	A	T	18	23899462	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00126499340590845	0.028
18	21479427	T	A	18	23899463	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.1403094091172E-5	0.006
18	21479427	T	C	18	23899463	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.1727629288968E-6	0.0
18	21479427	T	G	18	23899463	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.1727629288968E-6	0.0
18	21481079	G	A	18	23901115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.19958861606475E-4	0.078
18	21481079	G	C	18	23901115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.73192096552028E-5	0.012
18	21481079	G	T	18	23901115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.53705941789067E-4	0.034
18	21481080	A	C	18	23901116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38802895284725E-4	0.088
18	21481080	A	G	18	23901116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.37616908166035E-4	0.088
18	21481080	A	T	18	23901116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.90705261344541E-4	0.146
18	21481081	T	A	18	23901117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999735715623976	0.94
18	21481081	T	C	18	23901117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.122977295477502	0.368
18	21481081	T	G	18	23901117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999790630079481	0.94
18	21481082	G	A	18	23901118	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.81774200141004E-4	0.076
18	21481082	G	C	18	23901118	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.85568721037255E-4	0.042
18	21481082	G	T	18	23901118	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.7438394674264E-5	0.054
18	21481083	T	A	18	23901119	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9794471278515	0.69
18	21481083	T	C	18	23901119	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0386949517807826	0.256
18	21481083	T	G	18	23901119	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.981673002504577	0.664
18	21481084	A	C	18	23901120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.80769666264572E-5	0.006
18	21481084	A	G	18	23901120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.03111359531713E-5	0.002
18	21481084	A	T	18	23901120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.80769666264572E-5	0.006
18	21481085	T	A	18	23901121	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.987837624704566	0.738
18	21481085	T	C	18	23901121	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0999456941224716	0.288
18	21481085	T	G	18	23901121	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999622433707472	0.938
18	21481086	T	A	18	23901122	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.983742983050214	0.86
18	21481086	T	C	18	23901122	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.421324829371034	0.45
18	21481086	T	G	18	23901122	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.970773654653495	0.852
18	21481087	A	C	18	23901123	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.10658640106047E-4	0.016
18	21481087	A	G	18	23901123	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.60492749754135E-4	0.02
18	21481087	A	T	18	23901123	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.18344018915908E-4	0.092
18	21481088	C	A	18	23901124	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.975287484654899	0.86
18	21481088	C	G	18	23901124	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994086615195293	0.742
18	21481088	C	T	18	23901124	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0374258546727387	0.398
18	21481089	A	C	18	23901125	y	y	splicing	LAMA3(NM_001127717:exon47:c.5837-2A>C;NM_198129:exon48:c.6005-2A>C;NM_001127718:exon10:c.1010-2A>C;NM_000227:exon11:c.1178-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6005-2A>C;ENST00000399516:exon47:c.5837-2A>C;ENST00000269217:exon11:c.1178-2A>C;ENST00000587184:exon10:c.1010-2A>C;ENST00000586751:exon8:c.783-2A>C)	.	.	0.999952590261929	0.908
18	21481089	A	G	18	23901125	y	y	splicing	LAMA3(NM_001127717:exon47:c.5837-2A>G;NM_198129:exon48:c.6005-2A>G;NM_001127718:exon10:c.1010-2A>G;NM_000227:exon11:c.1178-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6005-2A>G;ENST00000399516:exon47:c.5837-2A>G;ENST00000269217:exon11:c.1178-2A>G;ENST00000587184:exon10:c.1010-2A>G;ENST00000586751:exon8:c.783-2A>G)	.	.	0.999952590261929	0.908
18	21481089	A	T	18	23901125	y	y	splicing	LAMA3(NM_001127717:exon47:c.5837-2A>T;NM_198129:exon48:c.6005-2A>T;NM_001127718:exon10:c.1010-2A>T;NM_000227:exon11:c.1178-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6005-2A>T;ENST00000399516:exon47:c.5837-2A>T;ENST00000269217:exon11:c.1178-2A>T;ENST00000587184:exon10:c.1010-2A>T;ENST00000586751:exon8:c.783-2A>T)	.	.	0.999952590261929	0.912
18	21481090	G	A	18	23901126	y	y	splicing	LAMA3(NM_001127717:exon47:c.5837-1G>A;NM_198129:exon48:c.6005-1G>A;NM_001127718:exon10:c.1010-1G>A;NM_000227:exon11:c.1178-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6005-1G>A;ENST00000399516:exon47:c.5837-1G>A;ENST00000269217:exon11:c.1178-1G>A;ENST00000587184:exon10:c.1010-1G>A;ENST00000586751:exon8:c.783-1G>A)	.	.	0.999989295765589	0.906
18	21481090	G	C	18	23901126	y	y	splicing	LAMA3(NM_001127717:exon47:c.5837-1G>C;NM_198129:exon48:c.6005-1G>C;NM_001127718:exon10:c.1010-1G>C;NM_000227:exon11:c.1178-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6005-1G>C;ENST00000399516:exon47:c.5837-1G>C;ENST00000269217:exon11:c.1178-1G>C;ENST00000587184:exon10:c.1010-1G>C;ENST00000586751:exon8:c.783-1G>C)	.	.	0.999989295765589	0.906
18	21481090	G	T	18	23901126	y	y	splicing	LAMA3(NM_001127717:exon47:c.5837-1G>T;NM_198129:exon48:c.6005-1G>T;NM_001127718:exon10:c.1010-1G>T;NM_000227:exon11:c.1178-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6005-1G>T;ENST00000399516:exon47:c.5837-1G>T;ENST00000269217:exon11:c.1178-1G>T;ENST00000587184:exon10:c.1010-1G>T;ENST00000586751:exon8:c.783-1G>T)	.	.	0.999989295765589	0.906
18	21481091	T	A	18	23901127	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon48:c.T6005A:p.L2002X;LAMA3:NM_000227:exon11:c.T1178A:p.L393X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon11:c.T1178A:p.L393X;ENSG00000053747:ENST00000313654:exon48:c.T6005A:p.L2002X;	0.84090619417986	0.776
18	21481091	T	C	18	23901127	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.T6005C:p.L2002S;LAMA3:NM_001127718:exon10:c.T1010C:p.M337T;LAMA3:NM_001127717:exon47:c.T5837C:p.M1946T;LAMA3:NM_000227:exon11:c.T1178C:p.L393S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.T1178C:p.L393S;ENSG00000053747:ENST00000587184:exon10:c.T1010C:p.M337T;ENSG00000053747:ENST00000399516:exon47:c.T5837C:p.M1946T;ENSG00000053747:ENST00000313654:exon48:c.T6005C:p.L2002S;	0.864364858585171	0.592
18	21481091	T	G	18	23901127	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.T6005G:p.L2002W;LAMA3:NM_001127718:exon10:c.T1010G:p.M337R;LAMA3:NM_001127717:exon47:c.T5837G:p.M1946R;LAMA3:NM_000227:exon11:c.T1178G:p.L393W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.T1178G:p.L393W;ENSG00000053747:ENST00000587184:exon10:c.T1010G:p.M337R;ENSG00000053747:ENST00000399516:exon47:c.T5837G:p.M1946R;ENSG00000053747:ENST00000313654:exon48:c.T6005G:p.L2002W;	0.880273789138239	0.644
18	21481092	G	A	18	23901128	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_001127718:exon10:c.G1011A:p.M337I;LAMA3:NM_001127717:exon47:c.G5838A:p.M1946I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000587184:exon10:c.G1011A:p.M337I;ENSG00000053747:ENST00000399516:exon47:c.G5838A:p.M1946I;	0.00107049821115358	0.102
18	21481092	G	C	18	23901128	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.G6006C:p.L2002F;LAMA3:NM_001127718:exon10:c.G1011C:p.M337I;LAMA3:NM_001127717:exon47:c.G5838C:p.M1946I;LAMA3:NM_000227:exon11:c.G1179C:p.L393F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.G1179C:p.L393F;ENSG00000053747:ENST00000587184:exon10:c.G1011C:p.M337I;ENSG00000053747:ENST00000399516:exon47:c.G5838C:p.M1946I;ENSG00000053747:ENST00000313654:exon48:c.G6006C:p.L2002F;	0.229383524409158	0.528
18	21481092	G	T	18	23901128	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.G6006T:p.L2002F;LAMA3:NM_001127718:exon10:c.G1011T:p.M337I;LAMA3:NM_001127717:exon47:c.G5838T:p.M1946I;LAMA3:NM_000227:exon11:c.G1179T:p.L393F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.G1179T:p.L393F;ENSG00000053747:ENST00000587184:exon10:c.G1011T:p.M337I;ENSG00000053747:ENST00000399516:exon47:c.G5838T:p.M1946I;ENSG00000053747:ENST00000313654:exon48:c.G6006T:p.L2002F;	0.620503785576678	0.556
18	21481285	C	A	18	23901321	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.C6199A:p.Q2067K;LAMA3:NM_001127718:exon10:c.C1204A:p.Q402K;LAMA3:NM_001127717:exon47:c.C6031A:p.Q2011K;LAMA3:NM_000227:exon11:c.C1372A:p.Q458K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.C1372A:p.Q458K;ENSG00000053747:ENST00000587184:exon10:c.C1204A:p.Q402K;ENSG00000053747:ENST00000399516:exon47:c.C6031A:p.Q2011K;ENSG00000053747:ENST00000313654:exon48:c.C6199A:p.Q2067K;	9.32782887981654E-5	0.01
18	21481285	C	G	18	23901321	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.C6199G:p.Q2067E;LAMA3:NM_001127718:exon10:c.C1204G:p.Q402E;LAMA3:NM_001127717:exon47:c.C6031G:p.Q2011E;LAMA3:NM_000227:exon11:c.C1372G:p.Q458E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.C1372G:p.Q458E;ENSG00000053747:ENST00000587184:exon10:c.C1204G:p.Q402E;ENSG00000053747:ENST00000399516:exon47:c.C6031G:p.Q2011E;ENSG00000053747:ENST00000313654:exon48:c.C6199G:p.Q2067E;	2.06319160046474E-4	0.018
18	21481285	C	T	18	23901321	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon48:c.C6199T:p.Q2067X;LAMA3:NM_001127718:exon10:c.C1204T:p.Q402X;LAMA3:NM_001127717:exon47:c.C6031T:p.Q2011X;LAMA3:NM_000227:exon11:c.C1372T:p.Q458X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon11:c.C1372T:p.Q458X;ENSG00000053747:ENST00000587184:exon10:c.C1204T:p.Q402X;ENSG00000053747:ENST00000399516:exon47:c.C6031T:p.Q2011X;ENSG00000053747:ENST00000313654:exon48:c.C6199T:p.Q2067X;	0.00585820185636978	0.416
18	21481286	A	C	18	23901322	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.A6200C:p.Q2067P;LAMA3:NM_001127718:exon10:c.A1205C:p.Q402P;LAMA3:NM_001127717:exon47:c.A6032C:p.Q2011P;LAMA3:NM_000227:exon11:c.A1373C:p.Q458P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.A1373C:p.Q458P;ENSG00000053747:ENST00000587184:exon10:c.A1205C:p.Q402P;ENSG00000053747:ENST00000399516:exon47:c.A6032C:p.Q2011P;ENSG00000053747:ENST00000313654:exon48:c.A6200C:p.Q2067P;	0.348406773124926	0.624
18	21481286	A	G	18	23901322	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.A6200G:p.Q2067R;LAMA3:NM_001127718:exon10:c.A1205G:p.Q402R;LAMA3:NM_001127717:exon47:c.A6032G:p.Q2011R;LAMA3:NM_000227:exon11:c.A1373G:p.Q458R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.A1373G:p.Q458R;ENSG00000053747:ENST00000587184:exon10:c.A1205G:p.Q402R;ENSG00000053747:ENST00000399516:exon47:c.A6032G:p.Q2011R;ENSG00000053747:ENST00000313654:exon48:c.A6200G:p.Q2067R;	0.330605158599665	0.516
18	21481286	A	T	18	23901322	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.A6200T:p.Q2067L;LAMA3:NM_001127718:exon10:c.A1205T:p.Q402L;LAMA3:NM_001127717:exon47:c.A6032T:p.Q2011L;LAMA3:NM_000227:exon11:c.A1373T:p.Q458L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.A1373T:p.Q458L;ENSG00000053747:ENST00000587184:exon10:c.A1205T:p.Q402L;ENSG00000053747:ENST00000399516:exon47:c.A6032T:p.Q2011L;ENSG00000053747:ENST00000313654:exon48:c.A6200T:p.Q2067L;	0.306980308093941	0.496
18	21481287	G	A	18	23901323	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon48:c.G6201A:p.Q2067Q;LAMA3:NM_001127718:exon10:c.G1206A:p.Q402Q;LAMA3:NM_001127717:exon47:c.G6033A:p.Q2011Q;LAMA3:NM_000227:exon11:c.G1374A:p.Q458Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.G1374A:p.Q458Q;ENSG00000053747:ENST00000587184:exon10:c.G1206A:p.Q402Q;ENSG00000053747:ENST00000399516:exon47:c.G6033A:p.Q2011Q;ENSG00000053747:ENST00000313654:exon48:c.G6201A:p.Q2067Q;	0.990297044734733	0.618
18	21481287	G	C	18	23901323	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.G6201C:p.Q2067H;LAMA3:NM_001127718:exon10:c.G1206C:p.Q402H;LAMA3:NM_001127717:exon47:c.G6033C:p.Q2011H;LAMA3:NM_000227:exon11:c.G1374C:p.Q458H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.G1374C:p.Q458H;ENSG00000053747:ENST00000587184:exon10:c.G1206C:p.Q402H;ENSG00000053747:ENST00000399516:exon47:c.G6033C:p.Q2011H;ENSG00000053747:ENST00000313654:exon48:c.G6201C:p.Q2067H;	0.999955909964592	0.946
18	21481287	G	T	18	23901323	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon48:c.G6201T:p.Q2067H;LAMA3:NM_001127718:exon10:c.G1206T:p.Q402H;LAMA3:NM_001127717:exon47:c.G6033T:p.Q2011H;LAMA3:NM_000227:exon11:c.G1374T:p.Q458H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon11:c.G1374T:p.Q458H;ENSG00000053747:ENST00000587184:exon10:c.G1206T:p.Q402H;ENSG00000053747:ENST00000399516:exon47:c.G6033T:p.Q2011H;ENSG00000053747:ENST00000313654:exon48:c.G6201T:p.Q2067H;	0.999892025891341	0.922
18	21481288	G	A	18	23901324	y	y	splicing	LAMA3(NM_001127717:exon47:c.6033+1G>A;NM_198129:exon48:c.6201+1G>A;NM_001127718:exon10:c.1206+1G>A;NM_000227:exon11:c.1374+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6201+1G>A;ENST00000399516:exon47:c.6033+1G>A;ENST00000269217:exon11:c.1374+1G>A;ENST00000587184:exon10:c.1206+1G>A;ENST00000586751:exon8:c.979+1G>A)	.	.	0.999990361384395	0.938
18	21481288	G	C	18	23901324	y	y	splicing	LAMA3(NM_001127717:exon47:c.6033+1G>C;NM_198129:exon48:c.6201+1G>C;NM_001127718:exon10:c.1206+1G>C;NM_000227:exon11:c.1374+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6201+1G>C;ENST00000399516:exon47:c.6033+1G>C;ENST00000269217:exon11:c.1374+1G>C;ENST00000587184:exon10:c.1206+1G>C;ENST00000586751:exon8:c.979+1G>C)	.	.	0.999990361384395	0.936
18	21481288	G	T	18	23901324	y	y	splicing	LAMA3(NM_001127717:exon47:c.6033+1G>T;NM_198129:exon48:c.6201+1G>T;NM_001127718:exon10:c.1206+1G>T;NM_000227:exon11:c.1374+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6201+1G>T;ENST00000399516:exon47:c.6033+1G>T;ENST00000269217:exon11:c.1374+1G>T;ENST00000587184:exon10:c.1206+1G>T;ENST00000586751:exon8:c.979+1G>T)	.	.	0.999990361384395	0.938
18	21481289	T	A	18	23901325	y	y	splicing	LAMA3(NM_001127717:exon47:c.6033+2T>A;NM_198129:exon48:c.6201+2T>A;NM_001127718:exon10:c.1206+2T>A;NM_000227:exon11:c.1374+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6201+2T>A;ENST00000399516:exon47:c.6033+2T>A;ENST00000269217:exon11:c.1374+2T>A;ENST00000587184:exon10:c.1206+2T>A;ENST00000586751:exon8:c.979+2T>A)	.	.	0.999988247793601	0.93
18	21481289	T	C	18	23901325	y	y	splicing	LAMA3(NM_001127717:exon47:c.6033+2T>C;NM_198129:exon48:c.6201+2T>C;NM_001127718:exon10:c.1206+2T>C;NM_000227:exon11:c.1374+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6201+2T>C;ENST00000399516:exon47:c.6033+2T>C;ENST00000269217:exon11:c.1374+2T>C;ENST00000587184:exon10:c.1206+2T>C;ENST00000586751:exon8:c.979+2T>C)	.	.	0.999929727175276	0.864
18	21481289	T	G	18	23901325	y	y	splicing	LAMA3(NM_001127717:exon47:c.6033+2T>G;NM_198129:exon48:c.6201+2T>G;NM_001127718:exon10:c.1206+2T>G;NM_000227:exon11:c.1374+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon48:c.6201+2T>G;ENST00000399516:exon47:c.6033+2T>G;ENST00000269217:exon11:c.1374+2T>G;ENST00000587184:exon10:c.1206+2T>G;ENST00000586751:exon8:c.979+2T>G)	.	.	0.999988247793601	0.93
18	21481290	G	A	18	23901326	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.72436197787293E-5	0.01
18	21481290	G	C	18	23901326	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0813420799768232	0.456
18	21481290	G	T	18	23901326	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.232313619539619	0.47
18	21481291	A	C	18	23901327	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.168580349616234	0.378
18	21481291	A	G	18	23901327	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.441399406106227	0.384
18	21481291	A	T	18	23901327	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.768943714029616	0.522
18	21481292	G	A	18	23901328	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999500055245509	0.97
18	21481292	G	C	18	23901328	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999753084422829	0.914
18	21481292	G	T	18	23901328	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99979807476088	0.92
18	21481293	T	A	18	23901329	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.0516889069902E-4	0.018
18	21481293	T	C	18	23901329	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.01395949309016E-4	0.114
18	21481293	T	G	18	23901329	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.05727278014682E-4	0.026
18	21481294	T	A	18	23901330	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.03486456168554E-4	0.0
18	21481294	T	C	18	23901330	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.85629413592391E-5	0.0
18	21481294	T	G	18	23901330	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.9469183429777E-5	0.0
18	21481295	C	A	18	23901331	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.8840742393182E-5	0.008
18	21481295	C	G	18	23901331	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.79107838598547E-5	0.008
18	21481295	C	T	18	23901331	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.4569103353161E-5	0.01
18	21482961	T	A	18	23902997	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.24805252294891E-4	0.038
18	21482961	T	C	18	23902997	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.31652625426495E-5	0.0
18	21482961	T	G	18	23902997	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.34385364322094E-5	0.038
18	21482962	A	C	18	23902998	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.2726283130427E-5	0.0
18	21482962	A	G	18	23902998	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.2726283130427E-5	0.002
18	21482962	A	T	18	23902998	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.28514613495285E-5	0.016
18	21482963	T	A	18	23902999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.38271016036988E-4	0.196
18	21482963	T	C	18	23902999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.68998420796507E-4	0.04
18	21482963	T	G	18	23902999	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999466954468387	0.946
18	21482964	T	A	18	23903000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00103306598066943	0.112
18	21482964	T	C	18	23903000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.40197998640287E-4	0.002
18	21482964	T	G	18	23903000	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.001151906258995	0.08
18	21482965	T	A	18	23903001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.22559449279657E-5	0.008
18	21482965	T	C	18	23903001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.48373138211428E-5	0.018
18	21482965	T	G	18	23903001	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.22559449279657E-5	0.014
18	21482966	T	A	18	23903002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.47127995545439E-4	0.078
18	21482966	T	C	18	23903002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.48785249266313E-4	0.006
18	21482966	T	G	18	23903002	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.36007077531153E-4	0.074
18	21482967	C	A	18	23903003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00241906201351379	0.086
18	21482967	C	G	18	23903003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00312923705004025	0.12
18	21482967	C	T	18	23903003	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.32740234009603E-5	0.004
18	21482968	T	A	18	23903004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00262050883421471	0.226
18	21482968	T	C	18	23903004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.42469945061027E-4	0.008
18	21482968	T	G	18	23903004	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0029229373530648	0.192
18	21482969	C	A	18	23903005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.99777143104463E-5	0.0
18	21482969	C	G	18	23903005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.60076873874954E-5	0.0
18	21482969	C	T	18	23903005	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.59303931463137E-5	0.002
18	21482970	C	A	18	23903006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999359050458385	0.758
18	21482970	C	G	18	23903006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999958994565432	0.972
18	21482970	C	T	18	23903006	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.35480684397985	0.186
18	21482971	A	C	18	23903007	y	y	splicing	LAMA3(NM_001127717:exon48:c.6034-2A>C;NM_198129:exon49:c.6202-2A>C;NM_001127718:exon11:c.1207-2A>C;NM_000227:exon12:c.1375-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6202-2A>C;ENST00000399516:exon48:c.6034-2A>C;ENST00000269217:exon12:c.1375-2A>C;ENST00000587184:exon11:c.1207-2A>C;ENST00000586751:exon9:c.980-2A>C)	.	.	0.999988247793601	0.928
18	21482971	A	G	18	23903007	y	y	splicing	LAMA3(NM_001127717:exon48:c.6034-2A>G;NM_198129:exon49:c.6202-2A>G;NM_001127718:exon11:c.1207-2A>G;NM_000227:exon12:c.1375-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6202-2A>G;ENST00000399516:exon48:c.6034-2A>G;ENST00000269217:exon12:c.1375-2A>G;ENST00000587184:exon11:c.1207-2A>G;ENST00000586751:exon9:c.980-2A>G)	.	.	0.999988247793601	0.928
18	21482971	A	T	18	23903007	y	y	splicing	LAMA3(NM_001127717:exon48:c.6034-2A>T;NM_198129:exon49:c.6202-2A>T;NM_001127718:exon11:c.1207-2A>T;NM_000227:exon12:c.1375-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6202-2A>T;ENST00000399516:exon48:c.6034-2A>T;ENST00000269217:exon12:c.1375-2A>T;ENST00000587184:exon11:c.1207-2A>T;ENST00000586751:exon9:c.980-2A>T)	.	.	0.999988247793601	0.928
18	21482972	G	A	18	23903008	y	y	splicing	LAMA3(NM_001127717:exon48:c.6034-1G>A;NM_198129:exon49:c.6202-1G>A;NM_001127718:exon11:c.1207-1G>A;NM_000227:exon12:c.1375-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6202-1G>A;ENST00000399516:exon48:c.6034-1G>A;ENST00000269217:exon12:c.1375-1G>A;ENST00000587184:exon11:c.1207-1G>A;ENST00000586751:exon9:c.980-1G>A)	.	.	0.999990361384395	0.936
18	21482972	G	C	18	23903008	y	y	splicing	LAMA3(NM_001127717:exon48:c.6034-1G>C;NM_198129:exon49:c.6202-1G>C;NM_001127718:exon11:c.1207-1G>C;NM_000227:exon12:c.1375-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6202-1G>C;ENST00000399516:exon48:c.6034-1G>C;ENST00000269217:exon12:c.1375-1G>C;ENST00000587184:exon11:c.1207-1G>C;ENST00000586751:exon9:c.980-1G>C)	.	.	0.999990361384395	0.936
18	21482972	G	T	18	23903008	y	y	splicing	LAMA3(NM_001127717:exon48:c.6034-1G>T;NM_198129:exon49:c.6202-1G>T;NM_001127718:exon11:c.1207-1G>T;NM_000227:exon12:c.1375-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6202-1G>T;ENST00000399516:exon48:c.6034-1G>T;ENST00000269217:exon12:c.1375-1G>T;ENST00000587184:exon11:c.1207-1G>T;ENST00000586751:exon9:c.980-1G>T)	.	.	0.999990361384395	0.936
18	21482973	A	C	18	23903009	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon49:c.A6202C:p.R2068R;LAMA3:NM_001127718:exon11:c.A1207C:p.R403R;LAMA3:NM_001127717:exon48:c.A6034C:p.R2012R;LAMA3:NM_000227:exon12:c.A1375C:p.R459R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.A1375C:p.R459R;ENSG00000053747:ENST00000587184:exon11:c.A1207C:p.R403R;ENSG00000053747:ENST00000399516:exon48:c.A6034C:p.R2012R;ENSG00000053747:ENST00000313654:exon49:c.A6202C:p.R2068R;	0.0100896783451205	0.122
18	21482973	A	G	18	23903009	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.A6202G:p.R2068G;LAMA3:NM_001127718:exon11:c.A1207G:p.R403G;LAMA3:NM_001127717:exon48:c.A6034G:p.R2012G;LAMA3:NM_000227:exon12:c.A1375G:p.R459G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.A1375G:p.R459G;ENSG00000053747:ENST00000587184:exon11:c.A1207G:p.R403G;ENSG00000053747:ENST00000399516:exon48:c.A6034G:p.R2012G;ENSG00000053747:ENST00000313654:exon49:c.A6202G:p.R2068G;	0.684739150294683	0.66
18	21482973	A	T	18	23903009	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon49:c.A6202T:p.R2068X;LAMA3:NM_001127718:exon11:c.A1207T:p.R403X;LAMA3:NM_001127717:exon48:c.A6034T:p.R2012X;LAMA3:NM_000227:exon12:c.A1375T:p.R459X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon12:c.A1375T:p.R459X;ENSG00000053747:ENST00000587184:exon11:c.A1207T:p.R403X;ENSG00000053747:ENST00000399516:exon48:c.A6034T:p.R2012X;ENSG00000053747:ENST00000313654:exon49:c.A6202T:p.R2068X;	0.567232611697489	0.67
18	21482974	G	A	18	23903010	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.G6203A:p.R2068K;LAMA3:NM_001127718:exon11:c.G1208A:p.R403K;LAMA3:NM_001127717:exon48:c.G6035A:p.R2012K;LAMA3:NM_000227:exon12:c.G1376A:p.R459K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.G1376A:p.R459K;ENSG00000053747:ENST00000587184:exon11:c.G1208A:p.R403K;ENSG00000053747:ENST00000399516:exon48:c.G6035A:p.R2012K;ENSG00000053747:ENST00000313654:exon49:c.G6203A:p.R2068K;	9.19939994287982E-5	0.008
18	21482974	G	C	18	23903010	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.G6203C:p.R2068T;LAMA3:NM_001127718:exon11:c.G1208C:p.R403T;LAMA3:NM_001127717:exon48:c.G6035C:p.R2012T;LAMA3:NM_000227:exon12:c.G1376C:p.R459T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.G1376C:p.R459T;ENSG00000053747:ENST00000587184:exon11:c.G1208C:p.R403T;ENSG00000053747:ENST00000399516:exon48:c.G6035C:p.R2012T;ENSG00000053747:ENST00000313654:exon49:c.G6203C:p.R2068T;	8.63180943899928E-5	0.004
18	21482974	G	T	18	23903010	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.G6203T:p.R2068I;LAMA3:NM_001127718:exon11:c.G1208T:p.R403I;LAMA3:NM_001127717:exon48:c.G6035T:p.R2012I;LAMA3:NM_000227:exon12:c.G1376T:p.R459I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.G1376T:p.R459I;ENSG00000053747:ENST00000587184:exon11:c.G1208T:p.R403I;ENSG00000053747:ENST00000399516:exon48:c.G6035T:p.R2012I;ENSG00000053747:ENST00000313654:exon49:c.G6203T:p.R2068I;	1.80989450526361E-4	0.226
18	21483087	A	C	18	23903123	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.A6316C:p.K2106Q;LAMA3:NM_001127718:exon11:c.A1321C:p.K441Q;LAMA3:NM_001127717:exon48:c.A6148C:p.K2050Q;LAMA3:NM_000227:exon12:c.A1489C:p.K497Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.A1489C:p.K497Q;ENSG00000053747:ENST00000587184:exon11:c.A1321C:p.K441Q;ENSG00000053747:ENST00000399516:exon48:c.A6148C:p.K2050Q;ENSG00000053747:ENST00000313654:exon49:c.A6316C:p.K2106Q;	0.00467517784818438	0.068
18	21483087	A	G	18	23903123	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.A6316G:p.K2106E;LAMA3:NM_001127718:exon11:c.A1321G:p.K441E;LAMA3:NM_001127717:exon48:c.A6148G:p.K2050E;LAMA3:NM_000227:exon12:c.A1489G:p.K497E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.A1489G:p.K497E;ENSG00000053747:ENST00000587184:exon11:c.A1321G:p.K441E;ENSG00000053747:ENST00000399516:exon48:c.A6148G:p.K2050E;ENSG00000053747:ENST00000313654:exon49:c.A6316G:p.K2106E;	0.00512290736093392	0.098
18	21483087	A	T	18	23903123	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon49:c.A6316T:p.K2106X;LAMA3:NM_001127718:exon11:c.A1321T:p.K441X;LAMA3:NM_001127717:exon48:c.A6148T:p.K2050X;LAMA3:NM_000227:exon12:c.A1489T:p.K497X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon12:c.A1489T:p.K497X;ENSG00000053747:ENST00000587184:exon11:c.A1321T:p.K441X;ENSG00000053747:ENST00000399516:exon48:c.A6148T:p.K2050X;ENSG00000053747:ENST00000313654:exon49:c.A6316T:p.K2106X;	0.995985202090108	0.872
18	21483088	A	C	18	23903124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.A6317C:p.K2106T;LAMA3:NM_001127718:exon11:c.A1322C:p.K441T;LAMA3:NM_001127717:exon48:c.A6149C:p.K2050T;LAMA3:NM_000227:exon12:c.A1490C:p.K497T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.A1490C:p.K497T;ENSG00000053747:ENST00000587184:exon11:c.A1322C:p.K441T;ENSG00000053747:ENST00000399516:exon48:c.A6149C:p.K2050T;ENSG00000053747:ENST00000313654:exon49:c.A6317C:p.K2106T;	0.999823845631778	0.992
18	21483088	A	G	18	23903124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.A6317G:p.K2106R;LAMA3:NM_001127718:exon11:c.A1322G:p.K441R;LAMA3:NM_001127717:exon48:c.A6149G:p.K2050R;LAMA3:NM_000227:exon12:c.A1490G:p.K497R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.A1490G:p.K497R;ENSG00000053747:ENST00000587184:exon11:c.A1322G:p.K441R;ENSG00000053747:ENST00000399516:exon48:c.A6149G:p.K2050R;ENSG00000053747:ENST00000313654:exon49:c.A6317G:p.K2106R;	0.999973992670737	1.0
18	21483088	A	T	18	23903124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.A6317T:p.K2106M;LAMA3:NM_001127718:exon11:c.A1322T:p.K441M;LAMA3:NM_001127717:exon48:c.A6149T:p.K2050M;LAMA3:NM_000227:exon12:c.A1490T:p.K497M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.A1490T:p.K497M;ENSG00000053747:ENST00000587184:exon11:c.A1322T:p.K441M;ENSG00000053747:ENST00000399516:exon48:c.A6149T:p.K2050M;ENSG00000053747:ENST00000313654:exon49:c.A6317T:p.K2106M;	0.999984115939933	1.0
18	21483089	G	A	18	23903125	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon49:c.G6318A:p.K2106K;LAMA3:NM_001127718:exon11:c.G1323A:p.K441K;LAMA3:NM_001127717:exon48:c.G6150A:p.K2050K;LAMA3:NM_000227:exon12:c.G1491A:p.K497K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.G1491A:p.K497K;ENSG00000053747:ENST00000587184:exon11:c.G1323A:p.K441K;ENSG00000053747:ENST00000399516:exon48:c.G6150A:p.K2050K;ENSG00000053747:ENST00000313654:exon49:c.G6318A:p.K2106K;	0.999976712474674	1.0
18	21483089	G	C	18	23903125	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.G6318C:p.K2106N;LAMA3:NM_001127718:exon11:c.G1323C:p.K441N;LAMA3:NM_001127717:exon48:c.G6150C:p.K2050N;LAMA3:NM_000227:exon12:c.G1491C:p.K497N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.G1491C:p.K497N;ENSG00000053747:ENST00000587184:exon11:c.G1323C:p.K441N;ENSG00000053747:ENST00000399516:exon48:c.G6150C:p.K2050N;ENSG00000053747:ENST00000313654:exon49:c.G6318C:p.K2106N;	0.999997925665413	1.0
18	21483089	G	T	18	23903125	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon49:c.G6318T:p.K2106N;LAMA3:NM_001127718:exon11:c.G1323T:p.K441N;LAMA3:NM_001127717:exon48:c.G6150T:p.K2050N;LAMA3:NM_000227:exon12:c.G1491T:p.K497N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon12:c.G1491T:p.K497N;ENSG00000053747:ENST00000587184:exon11:c.G1323T:p.K441N;ENSG00000053747:ENST00000399516:exon48:c.G6150T:p.K2050N;ENSG00000053747:ENST00000313654:exon49:c.G6318T:p.K2106N;	0.999995553603527	1.0
18	21483090	G	A	18	23903126	y	y	splicing	LAMA3(NM_001127717:exon48:c.6150+1G>A;NM_198129:exon49:c.6318+1G>A;NM_001127718:exon11:c.1323+1G>A;NM_000227:exon12:c.1491+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6318+1G>A;ENST00000399516:exon48:c.6150+1G>A;ENST00000269217:exon12:c.1491+1G>A;ENST00000587184:exon11:c.1323+1G>A;ENST00000586751:exon9:c.1096+1G>A)	.	.	0.999992425382947	0.94
18	21483090	G	C	18	23903126	y	y	splicing	LAMA3(NM_001127717:exon48:c.6150+1G>C;NM_198129:exon49:c.6318+1G>C;NM_001127718:exon11:c.1323+1G>C;NM_000227:exon12:c.1491+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6318+1G>C;ENST00000399516:exon48:c.6150+1G>C;ENST00000269217:exon12:c.1491+1G>C;ENST00000587184:exon11:c.1323+1G>C;ENST00000586751:exon9:c.1096+1G>C)	.	.	0.999992425382947	0.94
18	21483090	G	T	18	23903126	y	y	splicing	LAMA3(NM_001127717:exon48:c.6150+1G>T;NM_198129:exon49:c.6318+1G>T;NM_001127718:exon11:c.1323+1G>T;NM_000227:exon12:c.1491+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6318+1G>T;ENST00000399516:exon48:c.6150+1G>T;ENST00000269217:exon12:c.1491+1G>T;ENST00000587184:exon11:c.1323+1G>T;ENST00000586751:exon9:c.1096+1G>T)	.	.	0.999992425382947	0.94
18	21483091	T	A	18	23903127	y	y	splicing	LAMA3(NM_001127717:exon48:c.6150+2T>A;NM_198129:exon49:c.6318+2T>A;NM_001127718:exon11:c.1323+2T>A;NM_000227:exon12:c.1491+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6318+2T>A;ENST00000399516:exon48:c.6150+2T>A;ENST00000269217:exon12:c.1491+2T>A;ENST00000587184:exon11:c.1323+2T>A;ENST00000586751:exon9:c.1096+2T>A)	.	.	0.999990764389106	0.94
18	21483091	T	C	18	23903127	y	y	splicing	LAMA3(NM_001127717:exon48:c.6150+2T>C;NM_198129:exon49:c.6318+2T>C;NM_001127718:exon11:c.1323+2T>C;NM_000227:exon12:c.1491+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6318+2T>C;ENST00000399516:exon48:c.6150+2T>C;ENST00000269217:exon12:c.1491+2T>C;ENST00000587184:exon11:c.1323+2T>C;ENST00000586751:exon9:c.1096+2T>C)	.	.	0.996318998306784	0.706
18	21483091	T	G	18	23903127	y	y	splicing	LAMA3(NM_001127717:exon48:c.6150+2T>G;NM_198129:exon49:c.6318+2T>G;NM_001127718:exon11:c.1323+2T>G;NM_000227:exon12:c.1491+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon49:c.6318+2T>G;ENST00000399516:exon48:c.6150+2T>G;ENST00000269217:exon12:c.1491+2T>G;ENST00000587184:exon11:c.1323+2T>G;ENST00000586751:exon9:c.1096+2T>G)	.	.	0.999990764389106	0.94
18	21483092	A	C	18	23903128	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999951079781042	0.988
18	21483092	A	G	18	23903128	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999635919173997	0.944
18	21483092	A	T	18	23903128	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999942126999044	0.974
18	21483093	G	A	18	23903129	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.27407044488562E-4	0.076
18	21483093	G	C	18	23903129	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00159728208435216	0.224
18	21483093	G	T	18	23903129	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00109454742602794	0.126
18	21483094	A	C	18	23903130	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.72937900102381E-4	0.01
18	21483094	A	G	18	23903130	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.85265747780318E-4	0.112
18	21483094	A	T	18	23903130	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00474301752504839	0.224
18	21483095	G	A	18	23903131	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0015242343051967	0.084
18	21483095	G	C	18	23903131	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00153571530808022	0.156
18	21483095	G	T	18	23903131	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.64995565932446E-4	0.02
18	21483096	G	A	18	23903132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.09493944879628E-4	0.018
18	21483096	G	C	18	23903132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.90298587466648E-5	0.02
18	21483096	G	T	18	23903132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.10287711743567E-4	0.002
18	21483097	A	C	18	23903133	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.17102324612378E-4	0.042
18	21483097	A	G	18	23903133	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.21454064405459E-4	0.06
18	21483097	A	T	18	23903133	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.85232437227209E-4	0.038
18	21483885	T	A	18	23903921	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999494007616663	0.894
18	21483885	T	C	18	23903921	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.16193588396918	0.38
18	21483885	T	G	18	23903921	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.935029195227149	0.698
18	21483886	G	A	18	23903922	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999318673998496	0.934
18	21483886	G	C	18	23903922	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00163356403258342	0.078
18	21483886	G	T	18	23903922	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00249298058813961	0.098
18	21483887	G	A	18	23903923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.42165857192225E-4	0.152
18	21483887	G	C	18	23903923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.72160302333617E-4	0.078
18	21483887	G	T	18	23903923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.59492877355172E-4	0.118
18	21483888	A	C	18	23903924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.46203437191218E-4	0.066
18	21483888	A	G	18	23903924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00270871983334061	0.084
18	21483888	A	T	18	23903924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58929530854822E-4	0.062
18	21483889	A	C	18	23903925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.8881052314615E-4	0.08
18	21483889	A	G	18	23903925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999625999480014	0.95
18	21483889	A	T	18	23903925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.52145038585837E-4	0.1
18	21483890	A	C	18	23903926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.9995815303442E-4	0.092
18	21483890	A	G	18	23903926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999625999480014	0.97
18	21483890	A	T	18	23903926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.52145038585837E-4	0.098
18	21483891	A	C	18	23903927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.83475897114E-4	0.122
18	21483891	A	G	18	23903927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999212000189675	0.928
18	21483891	A	T	18	23903927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.40618879898449E-4	0.078
18	21483892	A	C	18	23903928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.37960580891434E-5	0.086
18	21483892	A	G	18	23903928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999625999480014	0.966
18	21483892	A	T	18	23903928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.25706632904941E-4	0.146
18	21483893	A	C	18	23903929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.43038228026334E-4	0.038
18	21483893	A	G	18	23903929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998455943025614	0.944
18	21483893	A	T	18	23903929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.08531699415281E-4	0.094
18	21483894	T	A	18	23903930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.127179407213415	0.392
18	21483894	T	C	18	23903930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.2370754459488E-5	0.03
18	21483894	T	G	18	23903930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.557994757774372	0.476
18	21483895	A	C	18	23903931	y	y	splicing	LAMA3(NM_001127717:exon49:c.6151-2A>C;NM_198129:exon50:c.6319-2A>C;NM_001127718:exon12:c.1324-2A>C;NM_000227:exon13:c.1492-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6319-2A>C;ENST00000399516:exon49:c.6151-2A>C;ENST00000269217:exon13:c.1492-2A>C;ENST00000587184:exon12:c.1324-2A>C;ENST00000586751:exon10:c.1097-2A>C)	.	.	0.999914511980801	0.87
18	21483895	A	G	18	23903931	y	y	splicing	LAMA3(NM_001127717:exon49:c.6151-2A>G;NM_198129:exon50:c.6319-2A>G;NM_001127718:exon12:c.1324-2A>G;NM_000227:exon13:c.1492-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6319-2A>G;ENST00000399516:exon49:c.6151-2A>G;ENST00000269217:exon13:c.1492-2A>G;ENST00000587184:exon12:c.1324-2A>G;ENST00000586751:exon10:c.1097-2A>G)	.	.	0.999914511980801	0.87
18	21483895	A	T	18	23903931	y	y	splicing	LAMA3(NM_001127717:exon49:c.6151-2A>T;NM_198129:exon50:c.6319-2A>T;NM_001127718:exon12:c.1324-2A>T;NM_000227:exon13:c.1492-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6319-2A>T;ENST00000399516:exon49:c.6151-2A>T;ENST00000269217:exon13:c.1492-2A>T;ENST00000587184:exon12:c.1324-2A>T;ENST00000586751:exon10:c.1097-2A>T)	.	.	0.999914511980801	0.872
18	21483896	G	A	18	23903932	y	y	splicing	LAMA3(NM_001127717:exon49:c.6151-1G>A;NM_198129:exon50:c.6319-1G>A;NM_001127718:exon12:c.1324-1G>A;NM_000227:exon13:c.1492-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6319-1G>A;ENST00000399516:exon49:c.6151-1G>A;ENST00000269217:exon13:c.1492-1G>A;ENST00000587184:exon12:c.1324-1G>A;ENST00000586751:exon10:c.1097-1G>A)	.	.	0.999980697831002	0.864
18	21483896	G	C	18	23903932	y	y	splicing	LAMA3(NM_001127717:exon49:c.6151-1G>C;NM_198129:exon50:c.6319-1G>C;NM_001127718:exon12:c.1324-1G>C;NM_000227:exon13:c.1492-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6319-1G>C;ENST00000399516:exon49:c.6151-1G>C;ENST00000269217:exon13:c.1492-1G>C;ENST00000587184:exon12:c.1324-1G>C;ENST00000586751:exon10:c.1097-1G>C)	.	.	0.999980697831002	0.864
18	21483896	G	T	18	23903932	y	y	splicing	LAMA3(NM_001127717:exon49:c.6151-1G>T;NM_198129:exon50:c.6319-1G>T;NM_001127718:exon12:c.1324-1G>T;NM_000227:exon13:c.1492-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6319-1G>T;ENST00000399516:exon49:c.6151-1G>T;ENST00000269217:exon13:c.1492-1G>T;ENST00000587184:exon12:c.1324-1G>T;ENST00000586751:exon10:c.1097-1G>T)	.	.	0.999980697831002	0.864
18	21483897	G	A	18	23903933	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.G6319A:p.E2107K;LAMA3:NM_001127718:exon12:c.G1324A:p.E442K;LAMA3:NM_001127717:exon49:c.G6151A:p.E2051K;LAMA3:NM_000227:exon13:c.G1492A:p.E498K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.G1492A:p.E498K;ENSG00000053747:ENST00000587184:exon12:c.G1324A:p.E442K;ENSG00000053747:ENST00000399516:exon49:c.G6151A:p.E2051K;ENSG00000053747:ENST00000313654:exon50:c.G6319A:p.E2107K;	0.994724166490737	0.802
18	21483897	G	C	18	23903933	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.G6319C:p.E2107Q;LAMA3:NM_001127718:exon12:c.G1324C:p.E442Q;LAMA3:NM_001127717:exon49:c.G6151C:p.E2051Q;LAMA3:NM_000227:exon13:c.G1492C:p.E498Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.G1492C:p.E498Q;ENSG00000053747:ENST00000587184:exon12:c.G1324C:p.E442Q;ENSG00000053747:ENST00000399516:exon49:c.G6151C:p.E2051Q;ENSG00000053747:ENST00000313654:exon50:c.G6319C:p.E2107Q;	0.996972888289585	0.84
18	21483897	G	T	18	23903933	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon50:c.G6319T:p.E2107X;LAMA3:NM_001127718:exon12:c.G1324T:p.E442X;LAMA3:NM_001127717:exon49:c.G6151T:p.E2051X;LAMA3:NM_000227:exon13:c.G1492T:p.E498X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon13:c.G1492T:p.E498X;ENSG00000053747:ENST00000587184:exon12:c.G1324T:p.E442X;ENSG00000053747:ENST00000399516:exon49:c.G6151T:p.E2051X;ENSG00000053747:ENST00000313654:exon50:c.G6319T:p.E2107X;	0.997649494509763	0.842
18	21483898	A	C	18	23903934	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.A6320C:p.E2107A;LAMA3:NM_001127718:exon12:c.A1325C:p.E442A;LAMA3:NM_001127717:exon49:c.A6152C:p.E2051A;LAMA3:NM_000227:exon13:c.A1493C:p.E498A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1493C:p.E498A;ENSG00000053747:ENST00000587184:exon12:c.A1325C:p.E442A;ENSG00000053747:ENST00000399516:exon49:c.A6152C:p.E2051A;ENSG00000053747:ENST00000313654:exon50:c.A6320C:p.E2107A;	0.858992186492295	0.736
18	21483898	A	G	18	23903934	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.A6320G:p.E2107G;LAMA3:NM_001127718:exon12:c.A1325G:p.E442G;LAMA3:NM_001127717:exon49:c.A6152G:p.E2051G;LAMA3:NM_000227:exon13:c.A1493G:p.E498G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1493G:p.E498G;ENSG00000053747:ENST00000587184:exon12:c.A1325G:p.E442G;ENSG00000053747:ENST00000399516:exon49:c.A6152G:p.E2051G;ENSG00000053747:ENST00000313654:exon50:c.A6320G:p.E2107G;	0.889241321245413	0.698
18	21483898	A	T	18	23903934	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.A6320T:p.E2107V;LAMA3:NM_001127718:exon12:c.A1325T:p.E442V;LAMA3:NM_001127717:exon49:c.A6152T:p.E2051V;LAMA3:NM_000227:exon13:c.A1493T:p.E498V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1493T:p.E498V;ENSG00000053747:ENST00000587184:exon12:c.A1325T:p.E442V;ENSG00000053747:ENST00000399516:exon49:c.A6152T:p.E2051V;ENSG00000053747:ENST00000313654:exon50:c.A6320T:p.E2107V;	0.914520806585154	0.812
18	21484049	A	C	18	23904085	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.A6471C:p.E2157D;LAMA3:NM_001127718:exon12:c.A1476C:p.E492D;LAMA3:NM_001127717:exon49:c.A6303C:p.E2101D;LAMA3:NM_000227:exon13:c.A1644C:p.E548D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1644C:p.E548D;ENSG00000053747:ENST00000587184:exon12:c.A1476C:p.E492D;ENSG00000053747:ENST00000399516:exon49:c.A6303C:p.E2101D;ENSG00000053747:ENST00000313654:exon50:c.A6471C:p.E2157D;	2.02608150660091E-5	0.0
18	21484049	A	G	18	23904085	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon50:c.A6471G:p.E2157E;LAMA3:NM_001127718:exon12:c.A1476G:p.E492E;LAMA3:NM_001127717:exon49:c.A6303G:p.E2101E;LAMA3:NM_000227:exon13:c.A1644G:p.E548E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1644G:p.E548E;ENSG00000053747:ENST00000587184:exon12:c.A1476G:p.E492E;ENSG00000053747:ENST00000399516:exon49:c.A6303G:p.E2101E;ENSG00000053747:ENST00000313654:exon50:c.A6471G:p.E2157E;	8.15432615497586E-4	0.086
18	21484049	A	T	18	23904085	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.A6471T:p.E2157D;LAMA3:NM_001127718:exon12:c.A1476T:p.E492D;LAMA3:NM_001127717:exon49:c.A6303T:p.E2101D;LAMA3:NM_000227:exon13:c.A1644T:p.E548D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1644T:p.E548D;ENSG00000053747:ENST00000587184:exon12:c.A1476T:p.E492D;ENSG00000053747:ENST00000399516:exon49:c.A6303T:p.E2101D;ENSG00000053747:ENST00000313654:exon50:c.A6471T:p.E2157D;	0.00750432285016668	0.26
18	21484050	G	A	18	23904086	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.G6472A:p.E2158K;LAMA3:NM_001127718:exon12:c.G1477A:p.E493K;LAMA3:NM_001127717:exon49:c.G6304A:p.E2102K;LAMA3:NM_000227:exon13:c.G1645A:p.E549K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.G1645A:p.E549K;ENSG00000053747:ENST00000587184:exon12:c.G1477A:p.E493K;ENSG00000053747:ENST00000399516:exon49:c.G6304A:p.E2102K;ENSG00000053747:ENST00000313654:exon50:c.G6472A:p.E2158K;	0.9697384716278	0.676
18	21484050	G	C	18	23904086	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.G6472C:p.E2158Q;LAMA3:NM_001127718:exon12:c.G1477C:p.E493Q;LAMA3:NM_001127717:exon49:c.G6304C:p.E2102Q;LAMA3:NM_000227:exon13:c.G1645C:p.E549Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.G1645C:p.E549Q;ENSG00000053747:ENST00000587184:exon12:c.G1477C:p.E493Q;ENSG00000053747:ENST00000399516:exon49:c.G6304C:p.E2102Q;ENSG00000053747:ENST00000313654:exon50:c.G6472C:p.E2158Q;	0.992074016880911	0.918
18	21484050	G	T	18	23904086	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon50:c.G6472T:p.E2158X;LAMA3:NM_001127718:exon12:c.G1477T:p.E493X;LAMA3:NM_001127717:exon49:c.G6304T:p.E2102X;LAMA3:NM_000227:exon13:c.G1645T:p.E549X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon13:c.G1645T:p.E549X;ENSG00000053747:ENST00000587184:exon12:c.G1477T:p.E493X;ENSG00000053747:ENST00000399516:exon49:c.G6304T:p.E2102X;ENSG00000053747:ENST00000313654:exon50:c.G6472T:p.E2158X;	0.993270235027488	0.884
18	21484051	A	C	18	23904087	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.A6473C:p.E2158A;LAMA3:NM_001127718:exon12:c.A1478C:p.E493A;LAMA3:NM_001127717:exon49:c.A6305C:p.E2102A;LAMA3:NM_000227:exon13:c.A1646C:p.E549A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1646C:p.E549A;ENSG00000053747:ENST00000587184:exon12:c.A1478C:p.E493A;ENSG00000053747:ENST00000399516:exon49:c.A6305C:p.E2102A;ENSG00000053747:ENST00000313654:exon50:c.A6473C:p.E2158A;	0.0161146896731917	0.268
18	21484051	A	G	18	23904087	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.A6473G:p.E2158G;LAMA3:NM_001127718:exon12:c.A1478G:p.E493G;LAMA3:NM_001127717:exon49:c.A6305G:p.E2102G;LAMA3:NM_000227:exon13:c.A1646G:p.E549G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1646G:p.E549G;ENSG00000053747:ENST00000587184:exon12:c.A1478G:p.E493G;ENSG00000053747:ENST00000399516:exon49:c.A6305G:p.E2102G;ENSG00000053747:ENST00000313654:exon50:c.A6473G:p.E2158G;	0.0319862354847237	0.358
18	21484051	A	T	18	23904087	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon50:c.A6473T:p.E2158V;LAMA3:NM_001127718:exon12:c.A1478T:p.E493V;LAMA3:NM_001127717:exon49:c.A6305T:p.E2102V;LAMA3:NM_000227:exon13:c.A1646T:p.E549V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon13:c.A1646T:p.E549V;ENSG00000053747:ENST00000587184:exon12:c.A1478T:p.E493V;ENSG00000053747:ENST00000399516:exon49:c.A6305T:p.E2102V;ENSG00000053747:ENST00000313654:exon50:c.A6473T:p.E2158V;	0.0305181156192733	0.188
18	21484052	G	A	18	23904088	y	y	splicing	LAMA3(NM_001127717:exon49:c.6305+1G>A;NM_198129:exon50:c.6473+1G>A;NM_001127718:exon12:c.1478+1G>A;NM_000227:exon13:c.1646+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6473+1G>A;ENST00000399516:exon49:c.6305+1G>A;ENST00000269217:exon13:c.1646+1G>A;ENST00000587184:exon12:c.1478+1G>A;ENST00000586751:exon10:c.1251+1G>A)	.	.	0.999990361384395	0.938
18	21484052	G	C	18	23904088	y	y	splicing	LAMA3(NM_001127717:exon49:c.6305+1G>C;NM_198129:exon50:c.6473+1G>C;NM_001127718:exon12:c.1478+1G>C;NM_000227:exon13:c.1646+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6473+1G>C;ENST00000399516:exon49:c.6305+1G>C;ENST00000269217:exon13:c.1646+1G>C;ENST00000587184:exon12:c.1478+1G>C;ENST00000586751:exon10:c.1251+1G>C)	.	.	0.999990361384395	0.938
18	21484052	G	T	18	23904088	y	y	splicing	LAMA3(NM_001127717:exon49:c.6305+1G>T;NM_198129:exon50:c.6473+1G>T;NM_001127718:exon12:c.1478+1G>T;NM_000227:exon13:c.1646+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6473+1G>T;ENST00000399516:exon49:c.6305+1G>T;ENST00000269217:exon13:c.1646+1G>T;ENST00000587184:exon12:c.1478+1G>T;ENST00000586751:exon10:c.1251+1G>T)	.	.	0.999990361384395	0.938
18	21484053	T	A	18	23904089	y	y	splicing	LAMA3(NM_001127717:exon49:c.6305+2T>A;NM_198129:exon50:c.6473+2T>A;NM_001127718:exon12:c.1478+2T>A;NM_000227:exon13:c.1646+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6473+2T>A;ENST00000399516:exon49:c.6305+2T>A;ENST00000269217:exon13:c.1646+2T>A;ENST00000587184:exon12:c.1478+2T>A;ENST00000586751:exon10:c.1251+2T>A)	.	.	0.999988247793601	0.93
18	21484053	T	C	18	23904089	y	y	splicing	LAMA3(NM_001127717:exon49:c.6305+2T>C;NM_198129:exon50:c.6473+2T>C;NM_001127718:exon12:c.1478+2T>C;NM_000227:exon13:c.1646+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6473+2T>C;ENST00000399516:exon49:c.6305+2T>C;ENST00000269217:exon13:c.1646+2T>C;ENST00000587184:exon12:c.1478+2T>C;ENST00000586751:exon10:c.1251+2T>C)	.	.	0.999959411273141	0.866
18	21484053	T	G	18	23904089	y	y	splicing	LAMA3(NM_001127717:exon49:c.6305+2T>G;NM_198129:exon50:c.6473+2T>G;NM_001127718:exon12:c.1478+2T>G;NM_000227:exon13:c.1646+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon50:c.6473+2T>G;ENST00000399516:exon49:c.6305+2T>G;ENST00000269217:exon13:c.1646+2T>G;ENST00000587184:exon12:c.1478+2T>G;ENST00000586751:exon10:c.1251+2T>G)	.	.	0.999988247793601	0.93
18	21484054	G	A	18	23904090	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.16544888298628E-4	0.016
18	21484054	G	C	18	23904090	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996844773081848	0.604
18	21484054	G	T	18	23904090	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992056866288447	0.526
18	21484055	A	C	18	23904091	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997042477053626	0.824
18	21484055	A	G	18	23904091	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999706258387789	0.866
18	21484055	A	T	18	23904091	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999631384453511	0.792
18	21484056	G	A	18	23904092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999973051612095	1.0
18	21484056	G	C	18	23904092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999973051612095	0.98
18	21484056	G	T	18	23904092	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999962436583952	0.982
18	21484057	T	A	18	23904093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998462936389809	0.818
18	21484057	T	C	18	23904093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998676064669773	0.946
18	21484057	T	G	18	23904093	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997852904205278	0.882
18	21484058	G	A	18	23904094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.15331803825216E-4	0.014
18	21484058	G	C	18	23904094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.51266128542051E-4	0.02
18	21484058	G	T	18	23904094	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00181454817295874	0.046
18	21484059	C	A	18	23904095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.57331386886395E-6	0.0
18	21484059	C	G	18	23904095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38593661429795E-5	0.0
18	21484059	C	T	18	23904095	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.37381107986768E-6	0.0
18	21484505	C	A	18	23904541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00115717205268766	0.136
18	21484505	C	G	18	23904541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00107610000729286	0.17
18	21484505	C	T	18	23904541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.24332405675145E-5	0.0
18	21484506	C	A	18	23904542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00297523694635118	0.08
18	21484506	C	G	18	23904542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.19772198376089E-4	0.038
18	21484506	C	T	18	23904542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.57418747048688E-5	0.024
18	21484507	T	A	18	23904543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.982170290064636	0.8
18	21484507	T	C	18	23904543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.04774112268368E-4	0.0
18	21484507	T	G	18	23904543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.32998138204105E-4	0.112
18	21484508	G	A	18	23904544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.19688683538316E-5	0.0
18	21484508	G	C	18	23904544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.16220170203917E-5	0.002
18	21484508	G	T	18	23904544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.46684061348407E-5	0.026
18	21484509	T	A	18	23904545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0169994024695217	0.154
18	21484509	T	C	18	23904545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58947736355333E-4	0.012
18	21484509	T	G	18	23904545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0147712640360239	0.25
18	21484510	C	A	18	23904546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00165489677151305	0.066
18	21484510	C	G	18	23904546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.00971712559458E-4	0.106
18	21484510	C	T	18	23904546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.72241592160922E-4	0.0
18	21484511	T	A	18	23904547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.297673176437996	0.332
18	21484511	T	C	18	23904547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.2736511082543E-4	0.002
18	21484511	T	G	18	23904547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.754355609226351	0.43
18	21484512	T	A	18	23904548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00447884837747469	0.172
18	21484512	T	C	18	23904548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.38691308727828E-4	0.04
18	21484512	T	G	18	23904548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0081512610906548	0.198
18	21484513	C	A	18	23904549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.27407169620048E-5	0.012
18	21484513	C	G	18	23904549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.27407169620048E-5	0.012
18	21484513	C	T	18	23904549	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.18670536223177E-5	0.012
18	21484514	C	A	18	23904550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.294170201245804	0.52
18	21484514	C	G	18	23904550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.987181233060491	0.85
18	21484514	C	T	18	23904550	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.93943952309356E-4	0.036
18	21484515	A	C	18	23904551	y	y	splicing	LAMA3(NM_001127717:exon50:c.6306-2A>C;NM_198129:exon51:c.6474-2A>C;NM_001127718:exon13:c.1479-2A>C;NM_000227:exon14:c.1647-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6474-2A>C;ENST00000399516:exon50:c.6306-2A>C;ENST00000269217:exon14:c.1647-2A>C;ENST00000587184:exon13:c.1479-2A>C;ENST00000586751:exon11:c.1252-2A>C)	.	.	0.999988247793601	0.928
18	21484515	A	G	18	23904551	y	y	splicing	LAMA3(NM_001127717:exon50:c.6306-2A>G;NM_198129:exon51:c.6474-2A>G;NM_001127718:exon13:c.1479-2A>G;NM_000227:exon14:c.1647-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6474-2A>G;ENST00000399516:exon50:c.6306-2A>G;ENST00000269217:exon14:c.1647-2A>G;ENST00000587184:exon13:c.1479-2A>G;ENST00000586751:exon11:c.1252-2A>G)	.	.	0.999988247793601	0.928
18	21484515	A	T	18	23904551	y	y	splicing	LAMA3(NM_001127717:exon50:c.6306-2A>T;NM_198129:exon51:c.6474-2A>T;NM_001127718:exon13:c.1479-2A>T;NM_000227:exon14:c.1647-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6474-2A>T;ENST00000399516:exon50:c.6306-2A>T;ENST00000269217:exon14:c.1647-2A>T;ENST00000587184:exon13:c.1479-2A>T;ENST00000586751:exon11:c.1252-2A>T)	.	.	0.999988247793601	0.93
18	21484516	G	A	18	23904552	y	y	splicing	LAMA3(NM_001127717:exon50:c.6306-1G>A;NM_198129:exon51:c.6474-1G>A;NM_001127718:exon13:c.1479-1G>A;NM_000227:exon14:c.1647-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6474-1G>A;ENST00000399516:exon50:c.6306-1G>A;ENST00000269217:exon14:c.1647-1G>A;ENST00000587184:exon13:c.1479-1G>A;ENST00000586751:exon11:c.1252-1G>A)	.	.	0.999985532734767	0.938
18	21484516	G	C	18	23904552	y	y	splicing	LAMA3(NM_001127717:exon50:c.6306-1G>C;NM_198129:exon51:c.6474-1G>C;NM_001127718:exon13:c.1479-1G>C;NM_000227:exon14:c.1647-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6474-1G>C;ENST00000399516:exon50:c.6306-1G>C;ENST00000269217:exon14:c.1647-1G>C;ENST00000587184:exon13:c.1479-1G>C;ENST00000586751:exon11:c.1252-1G>C)	.	.	0.999985532734767	0.938
18	21484516	G	T	18	23904552	y	y	splicing	LAMA3(NM_001127717:exon50:c.6306-1G>T;NM_198129:exon51:c.6474-1G>T;NM_001127718:exon13:c.1479-1G>T;NM_000227:exon14:c.1647-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6474-1G>T;ENST00000399516:exon50:c.6306-1G>T;ENST00000269217:exon14:c.1647-1G>T;ENST00000587184:exon13:c.1479-1G>T;ENST00000586751:exon11:c.1252-1G>T)	.	.	0.999985532734767	0.938
18	21484517	G	A	18	23904553	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon51:c.G6474A:p.E2158E;LAMA3:NM_001127718:exon13:c.G1479A:p.E493E;LAMA3:NM_001127717:exon50:c.G6306A:p.E2102E;LAMA3:NM_000227:exon14:c.G1647A:p.E549E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.G1647A:p.E549E;ENSG00000053747:ENST00000587184:exon13:c.G1479A:p.E493E;ENSG00000053747:ENST00000399516:exon50:c.G6306A:p.E2102E;ENSG00000053747:ENST00000313654:exon51:c.G6474A:p.E2158E;	0.00767684542469301	0.224
18	21484517	G	C	18	23904553	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.G6474C:p.E2158D;LAMA3:NM_001127718:exon13:c.G1479C:p.E493D;LAMA3:NM_001127717:exon50:c.G6306C:p.E2102D;LAMA3:NM_000227:exon14:c.G1647C:p.E549D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.G1647C:p.E549D;ENSG00000053747:ENST00000587184:exon13:c.G1479C:p.E493D;ENSG00000053747:ENST00000399516:exon50:c.G6306C:p.E2102D;ENSG00000053747:ENST00000313654:exon51:c.G6474C:p.E2158D;	0.84358139001215	0.706
18	21484517	G	T	18	23904553	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.G6474T:p.E2158D;LAMA3:NM_001127718:exon13:c.G1479T:p.E493D;LAMA3:NM_001127717:exon50:c.G6306T:p.E2102D;LAMA3:NM_000227:exon14:c.G1647T:p.E549D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.G1647T:p.E549D;ENSG00000053747:ENST00000587184:exon13:c.G1479T:p.E493D;ENSG00000053747:ENST00000399516:exon50:c.G6306T:p.E2102D;ENSG00000053747:ENST00000313654:exon51:c.G6474T:p.E2158D;	0.991344701344319	0.808
18	21484518	A	C	18	23904554	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.A6475C:p.I2159L;LAMA3:NM_001127718:exon13:c.A1480C:p.I494L;LAMA3:NM_001127717:exon50:c.A6307C:p.I2103L;LAMA3:NM_000227:exon14:c.A1648C:p.I550L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.A1648C:p.I550L;ENSG00000053747:ENST00000587184:exon13:c.A1480C:p.I494L;ENSG00000053747:ENST00000399516:exon50:c.A6307C:p.I2103L;ENSG00000053747:ENST00000313654:exon51:c.A6475C:p.I2159L;	0.928079161296898	0.862
18	21484518	A	G	18	23904554	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.A6475G:p.I2159V;LAMA3:NM_001127718:exon13:c.A1480G:p.I494V;LAMA3:NM_001127717:exon50:c.A6307G:p.I2103V;LAMA3:NM_000227:exon14:c.A1648G:p.I550V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.A1648G:p.I550V;ENSG00000053747:ENST00000587184:exon13:c.A1480G:p.I494V;ENSG00000053747:ENST00000399516:exon50:c.A6307G:p.I2103V;ENSG00000053747:ENST00000313654:exon51:c.A6475G:p.I2159V;	0.860674156356117	0.682
18	21484518	A	T	18	23904554	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.A6475T:p.I2159F;LAMA3:NM_001127718:exon13:c.A1480T:p.I494F;LAMA3:NM_001127717:exon50:c.A6307T:p.I2103F;LAMA3:NM_000227:exon14:c.A1648T:p.I550F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.A1648T:p.I550F;ENSG00000053747:ENST00000587184:exon13:c.A1480T:p.I494F;ENSG00000053747:ENST00000399516:exon50:c.A6307T:p.I2103F;ENSG00000053747:ENST00000313654:exon51:c.A6475T:p.I2159F;	0.793860510281944	0.718
18	21484656	C	A	18	23904692	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.C6613A:p.Q2205K;LAMA3:NM_001127718:exon13:c.C1618A:p.Q540K;LAMA3:NM_001127717:exon50:c.C6445A:p.Q2149K;LAMA3:NM_000227:exon14:c.C1786A:p.Q596K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.C1786A:p.Q596K;ENSG00000053747:ENST00000587184:exon13:c.C1618A:p.Q540K;ENSG00000053747:ENST00000399516:exon50:c.C6445A:p.Q2149K;ENSG00000053747:ENST00000313654:exon51:c.C6613A:p.Q2205K;	0.0691641189253561	0.312
18	21484656	C	G	18	23904692	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.C6613G:p.Q2205E;LAMA3:NM_001127718:exon13:c.C1618G:p.Q540E;LAMA3:NM_001127717:exon50:c.C6445G:p.Q2149E;LAMA3:NM_000227:exon14:c.C1786G:p.Q596E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.C1786G:p.Q596E;ENSG00000053747:ENST00000587184:exon13:c.C1618G:p.Q540E;ENSG00000053747:ENST00000399516:exon50:c.C6445G:p.Q2149E;ENSG00000053747:ENST00000313654:exon51:c.C6613G:p.Q2205E;	0.0598668223740578	0.308
18	21484656	C	T	18	23904692	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon51:c.C6613T:p.Q2205X;LAMA3:NM_001127718:exon13:c.C1618T:p.Q540X;LAMA3:NM_001127717:exon50:c.C6445T:p.Q2149X;LAMA3:NM_000227:exon14:c.C1786T:p.Q596X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon14:c.C1786T:p.Q596X;ENSG00000053747:ENST00000587184:exon13:c.C1618T:p.Q540X;ENSG00000053747:ENST00000399516:exon50:c.C6445T:p.Q2149X;ENSG00000053747:ENST00000313654:exon51:c.C6613T:p.Q2205X;	0.988427196215458	0.882
18	21484657	A	C	18	23904693	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.A6614C:p.Q2205P;LAMA3:NM_001127718:exon13:c.A1619C:p.Q540P;LAMA3:NM_001127717:exon50:c.A6446C:p.Q2149P;LAMA3:NM_000227:exon14:c.A1787C:p.Q596P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.A1787C:p.Q596P;ENSG00000053747:ENST00000587184:exon13:c.A1619C:p.Q540P;ENSG00000053747:ENST00000399516:exon50:c.A6446C:p.Q2149P;ENSG00000053747:ENST00000313654:exon51:c.A6614C:p.Q2205P;	0.99987682668856	0.998
18	21484657	A	G	18	23904693	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.A6614G:p.Q2205R;LAMA3:NM_001127718:exon13:c.A1619G:p.Q540R;LAMA3:NM_001127717:exon50:c.A6446G:p.Q2149R;LAMA3:NM_000227:exon14:c.A1787G:p.Q596R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.A1787G:p.Q596R;ENSG00000053747:ENST00000587184:exon13:c.A1619G:p.Q540R;ENSG00000053747:ENST00000399516:exon50:c.A6446G:p.Q2149R;ENSG00000053747:ENST00000313654:exon51:c.A6614G:p.Q2205R;	0.999875083207674	0.99
18	21484657	A	T	18	23904693	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.A6614T:p.Q2205L;LAMA3:NM_001127718:exon13:c.A1619T:p.Q540L;LAMA3:NM_001127717:exon50:c.A6446T:p.Q2149L;LAMA3:NM_000227:exon14:c.A1787T:p.Q596L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.A1787T:p.Q596L;ENSG00000053747:ENST00000587184:exon13:c.A1619T:p.Q540L;ENSG00000053747:ENST00000399516:exon50:c.A6446T:p.Q2149L;ENSG00000053747:ENST00000313654:exon51:c.A6614T:p.Q2205L;	0.999941841060887	0.982
18	21484658	G	A	18	23904694	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon51:c.G6615A:p.Q2205Q;LAMA3:NM_001127718:exon13:c.G1620A:p.Q540Q;LAMA3:NM_001127717:exon50:c.G6447A:p.Q2149Q;LAMA3:NM_000227:exon14:c.G1788A:p.Q596Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.G1788A:p.Q596Q;ENSG00000053747:ENST00000587184:exon13:c.G1620A:p.Q540Q;ENSG00000053747:ENST00000399516:exon50:c.G6447A:p.Q2149Q;ENSG00000053747:ENST00000313654:exon51:c.G6615A:p.Q2205Q;	0.999907660413375	0.99
18	21484658	G	C	18	23904694	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.G6615C:p.Q2205H;LAMA3:NM_001127718:exon13:c.G1620C:p.Q540H;LAMA3:NM_001127717:exon50:c.G6447C:p.Q2149H;LAMA3:NM_000227:exon14:c.G1788C:p.Q596H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.G1788C:p.Q596H;ENSG00000053747:ENST00000587184:exon13:c.G1620C:p.Q540H;ENSG00000053747:ENST00000399516:exon50:c.G6447C:p.Q2149H;ENSG00000053747:ENST00000313654:exon51:c.G6615C:p.Q2205H;	0.999996177262641	1.0
18	21484658	G	T	18	23904694	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon51:c.G6615T:p.Q2205H;LAMA3:NM_001127718:exon13:c.G1620T:p.Q540H;LAMA3:NM_001127717:exon50:c.G6447T:p.Q2149H;LAMA3:NM_000227:exon14:c.G1788T:p.Q596H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon14:c.G1788T:p.Q596H;ENSG00000053747:ENST00000587184:exon13:c.G1620T:p.Q540H;ENSG00000053747:ENST00000399516:exon50:c.G6447T:p.Q2149H;ENSG00000053747:ENST00000313654:exon51:c.G6615T:p.Q2205H;	0.999981839627488	0.994
18	21484659	G	A	18	23904695	y	y	splicing	LAMA3(NM_001127717:exon50:c.6447+1G>A;NM_198129:exon51:c.6615+1G>A;NM_001127718:exon13:c.1620+1G>A;NM_000227:exon14:c.1788+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6615+1G>A;ENST00000399516:exon50:c.6447+1G>A;ENST00000269217:exon14:c.1788+1G>A;ENST00000587184:exon13:c.1620+1G>A;ENST00000586751:exon11:c.1393+1G>A)	.	.	0.999985532734767	0.938
18	21484659	G	C	18	23904695	y	y	splicing	LAMA3(NM_001127717:exon50:c.6447+1G>C;NM_198129:exon51:c.6615+1G>C;NM_001127718:exon13:c.1620+1G>C;NM_000227:exon14:c.1788+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6615+1G>C;ENST00000399516:exon50:c.6447+1G>C;ENST00000269217:exon14:c.1788+1G>C;ENST00000587184:exon13:c.1620+1G>C;ENST00000586751:exon11:c.1393+1G>C)	.	.	0.999985532734767	0.938
18	21484659	G	T	18	23904695	y	y	splicing	LAMA3(NM_001127717:exon50:c.6447+1G>T;NM_198129:exon51:c.6615+1G>T;NM_001127718:exon13:c.1620+1G>T;NM_000227:exon14:c.1788+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6615+1G>T;ENST00000399516:exon50:c.6447+1G>T;ENST00000269217:exon14:c.1788+1G>T;ENST00000587184:exon13:c.1620+1G>T;ENST00000586751:exon11:c.1393+1G>T)	.	.	0.999985532734767	0.938
18	21484660	T	A	18	23904696	y	y	splicing	LAMA3(NM_001127717:exon50:c.6447+2T>A;NM_198129:exon51:c.6615+2T>A;NM_001127718:exon13:c.1620+2T>A;NM_000227:exon14:c.1788+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6615+2T>A;ENST00000399516:exon50:c.6447+2T>A;ENST00000269217:exon14:c.1788+2T>A;ENST00000587184:exon13:c.1620+2T>A;ENST00000586751:exon11:c.1393+2T>A)	.	.	0.999988247793601	0.93
18	21484660	T	C	18	23904696	y	y	splicing	LAMA3(NM_001127717:exon50:c.6447+2T>C;NM_198129:exon51:c.6615+2T>C;NM_001127718:exon13:c.1620+2T>C;NM_000227:exon14:c.1788+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6615+2T>C;ENST00000399516:exon50:c.6447+2T>C;ENST00000269217:exon14:c.1788+2T>C;ENST00000587184:exon13:c.1620+2T>C;ENST00000586751:exon11:c.1393+2T>C)	.	.	0.999929727175276	0.866
18	21484660	T	G	18	23904696	y	y	splicing	LAMA3(NM_001127717:exon50:c.6447+2T>G;NM_198129:exon51:c.6615+2T>G;NM_001127718:exon13:c.1620+2T>G;NM_000227:exon14:c.1788+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon51:c.6615+2T>G;ENST00000399516:exon50:c.6447+2T>G;ENST00000269217:exon14:c.1788+2T>G;ENST00000587184:exon13:c.1620+2T>G;ENST00000586751:exon11:c.1393+2T>G)	.	.	0.999988247793601	0.93
18	21484661	G	A	18	23904697	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00109020541047298	0.06
18	21484661	G	C	18	23904697	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.188143540564739	0.504
18	21484661	G	T	18	23904697	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.624531410102731	0.534
18	21484662	G	A	18	23904698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.62361414951801E-4	0.08
18	21484662	G	C	18	23904698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.18977788402924E-4	0.128
18	21484662	G	T	18	23904698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00249023707473746	0.086
18	21484663	G	A	18	23904699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998724217619828	0.964
18	21484663	G	C	18	23904699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999578946716478	0.884
18	21484663	G	T	18	23904699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999981963045962	0.982
18	21484664	C	A	18	23904700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00239527139061782	0.11
18	21484664	C	G	18	23904700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.42259547292811E-4	0.096
18	21484664	C	T	18	23904700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33979821273894E-4	0.03
18	21484665	A	C	18	23904701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.87554820621102E-4	0.006
18	21484665	A	G	18	23904701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00127188619643677	0.032
18	21484665	A	T	18	23904701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00248721474231162	0.19
18	21484666	C	A	18	23904702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.74240807180316E-5	0.056
18	21484666	C	G	18	23904702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.54927408603114E-5	0.01
18	21484666	C	T	18	23904702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.34110882994186E-5	0.006
18	21485474	C	A	18	23905510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0011723287904863	0.096
18	21485474	C	G	18	23905510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.18034064806702E-4	0.054
18	21485474	C	T	18	23905510	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.0306335771591E-4	0.022
18	21485475	T	A	18	23905511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.786555461846213	0.668
18	21485475	T	C	18	23905511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0915429712352021	0.21
18	21485475	T	G	18	23905511	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.918188736862889	0.62
18	21485476	T	A	18	23905512	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.420402853116	0.638
18	21485476	T	C	18	23905512	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.76939071938142E-4	0.106
18	21485476	T	G	18	23905512	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0782709136152616	0.528
18	21485477	T	A	18	23905513	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999630994112157	0.97
18	21485477	T	C	18	23905513	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.62448803392487E-4	0.078
18	21485477	T	G	18	23905513	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0138036444751199	0.206
18	21485478	G	A	18	23905514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33041480235579E-4	0.01
18	21485478	G	C	18	23905514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.80352372772938E-5	0.0
18	21485478	G	T	18	23905514	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.16902288315116E-5	0.0
18	21485479	C	A	18	23905515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00595634182146921	0.098
18	21485479	C	G	18	23905515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.005230625061114	0.082
18	21485479	C	T	18	23905515	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44494588709758E-5	0.002
18	21485480	T	A	18	23905516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.985928354484753	0.604
18	21485480	T	C	18	23905516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.41970898259582E-4	0.064
18	21485480	T	G	18	23905516	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.979996128097137	0.672
18	21485481	T	A	18	23905517	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.986796558963839	0.684
18	21485481	T	C	18	23905517	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0172282374340797	0.092
18	21485481	T	G	18	23905517	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.928975953885546	0.622
18	21485482	T	A	18	23905518	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38941446086484E-4	0.0
18	21485482	T	C	18	23905518	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.22057053922856E-4	0.01
18	21485482	T	G	18	23905518	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.99098732361812E-4	0.086
18	21485483	C	A	18	23905519	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99419796649994	0.86
18	21485483	C	G	18	23905519	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999621943821373	0.976
18	21485483	C	T	18	23905519	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00827668735533828	0.076
18	21485484	A	C	18	23905520	y	y	splicing	LAMA3(NM_001127717:exon51:c.6448-2A>C;NM_198129:exon52:c.6616-2A>C;NM_001127718:exon14:c.1621-2A>C;NM_000227:exon15:c.1789-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6616-2A>C;ENST00000399516:exon51:c.6448-2A>C;ENST00000269217:exon15:c.1789-2A>C;ENST00000587184:exon14:c.1621-2A>C;ENST00000586751:exon12:c.1394-2A>C)	.	.	0.999989917668626	0.928
18	21485484	A	G	18	23905520	y	y	splicing	LAMA3(NM_001127717:exon51:c.6448-2A>G;NM_198129:exon52:c.6616-2A>G;NM_001127718:exon14:c.1621-2A>G;NM_000227:exon15:c.1789-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6616-2A>G;ENST00000399516:exon51:c.6448-2A>G;ENST00000269217:exon15:c.1789-2A>G;ENST00000587184:exon14:c.1621-2A>G;ENST00000586751:exon12:c.1394-2A>G)	.	.	0.999989917668626	0.928
18	21485484	A	T	18	23905520	y	y	splicing	LAMA3(NM_001127717:exon51:c.6448-2A>T;NM_198129:exon52:c.6616-2A>T;NM_001127718:exon14:c.1621-2A>T;NM_000227:exon15:c.1789-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6616-2A>T;ENST00000399516:exon51:c.6448-2A>T;ENST00000269217:exon15:c.1789-2A>T;ENST00000587184:exon14:c.1621-2A>T;ENST00000586751:exon12:c.1394-2A>T)	.	.	0.999989917668626	0.928
18	21485485	G	A	18	23905521	y	y	splicing	LAMA3(NM_001127717:exon51:c.6448-1G>A;NM_198129:exon52:c.6616-1G>A;NM_001127718:exon14:c.1621-1G>A;NM_000227:exon15:c.1789-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6616-1G>A;ENST00000399516:exon51:c.6448-1G>A;ENST00000269217:exon15:c.1789-1G>A;ENST00000587184:exon14:c.1621-1G>A;ENST00000586751:exon12:c.1394-1G>A)	.	.	0.999981760802075	0.944
18	21485485	G	C	18	23905521	y	y	splicing	LAMA3(NM_001127717:exon51:c.6448-1G>C;NM_198129:exon52:c.6616-1G>C;NM_001127718:exon14:c.1621-1G>C;NM_000227:exon15:c.1789-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6616-1G>C;ENST00000399516:exon51:c.6448-1G>C;ENST00000269217:exon15:c.1789-1G>C;ENST00000587184:exon14:c.1621-1G>C;ENST00000586751:exon12:c.1394-1G>C)	.	.	0.999981760802075	0.944
18	21485485	G	T	18	23905521	y	y	splicing	LAMA3(NM_001127717:exon51:c.6448-1G>T;NM_198129:exon52:c.6616-1G>T;NM_001127718:exon14:c.1621-1G>T;NM_000227:exon15:c.1789-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6616-1G>T;ENST00000399516:exon51:c.6448-1G>T;ENST00000269217:exon15:c.1789-1G>T;ENST00000587184:exon14:c.1621-1G>T;ENST00000586751:exon12:c.1394-1G>T)	.	.	0.999981760802075	0.944
18	21485486	A	C	18	23905522	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.A6616C:p.T2206P;LAMA3:NM_001127718:exon14:c.A1621C:p.T541P;LAMA3:NM_001127717:exon51:c.A6448C:p.T2150P;LAMA3:NM_000227:exon15:c.A1789C:p.T597P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1789C:p.T597P;ENSG00000053747:ENST00000587184:exon14:c.A1621C:p.T541P;ENSG00000053747:ENST00000399516:exon51:c.A6448C:p.T2150P;ENSG00000053747:ENST00000313654:exon52:c.A6616C:p.T2206P;	0.395088170598728	0.536
18	21485486	A	G	18	23905522	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.A6616G:p.T2206A;LAMA3:NM_001127718:exon14:c.A1621G:p.T541A;LAMA3:NM_001127717:exon51:c.A6448G:p.T2150A;LAMA3:NM_000227:exon15:c.A1789G:p.T597A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1789G:p.T597A;ENSG00000053747:ENST00000587184:exon14:c.A1621G:p.T541A;ENSG00000053747:ENST00000399516:exon51:c.A6448G:p.T2150A;ENSG00000053747:ENST00000313654:exon52:c.A6616G:p.T2206A;	0.575571676673175	0.684
18	21485486	A	T	18	23905522	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.A6616T:p.T2206S;LAMA3:NM_001127718:exon14:c.A1621T:p.T541S;LAMA3:NM_001127717:exon51:c.A6448T:p.T2150S;LAMA3:NM_000227:exon15:c.A1789T:p.T597S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1789T:p.T597S;ENSG00000053747:ENST00000587184:exon14:c.A1621T:p.T541S;ENSG00000053747:ENST00000399516:exon51:c.A6448T:p.T2150S;ENSG00000053747:ENST00000313654:exon52:c.A6616T:p.T2206S;	0.381422315097419	0.542
18	21485487	C	A	18	23905523	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.C6617A:p.T2206K;LAMA3:NM_001127718:exon14:c.C1622A:p.T541K;LAMA3:NM_001127717:exon51:c.C6449A:p.T2150K;LAMA3:NM_000227:exon15:c.C1790A:p.T597K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.C1790A:p.T597K;ENSG00000053747:ENST00000587184:exon14:c.C1622A:p.T541K;ENSG00000053747:ENST00000399516:exon51:c.C6449A:p.T2150K;ENSG00000053747:ENST00000313654:exon52:c.C6617A:p.T2206K;	0.930908170106245	0.622
18	21485487	C	G	18	23905523	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.C6617G:p.T2206R;LAMA3:NM_001127718:exon14:c.C1622G:p.T541R;LAMA3:NM_001127717:exon51:c.C6449G:p.T2150R;LAMA3:NM_000227:exon15:c.C1790G:p.T597R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.C1790G:p.T597R;ENSG00000053747:ENST00000587184:exon14:c.C1622G:p.T541R;ENSG00000053747:ENST00000399516:exon51:c.C6449G:p.T2150R;ENSG00000053747:ENST00000313654:exon52:c.C6617G:p.T2206R;	0.963528176785361	0.67
18	21485487	C	T	18	23905523	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.C6617T:p.T2206I;LAMA3:NM_001127718:exon14:c.C1622T:p.T541I;LAMA3:NM_001127717:exon51:c.C6449T:p.T2150I;LAMA3:NM_000227:exon15:c.C1790T:p.T597I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.C1790T:p.T597I;ENSG00000053747:ENST00000587184:exon14:c.C1622T:p.T541I;ENSG00000053747:ENST00000399516:exon51:c.C6449T:p.T2150I;ENSG00000053747:ENST00000313654:exon52:c.C6617T:p.T2206I;	0.986633211773803	0.774
18	21485586	A	C	18	23905622	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.A6716C:p.Q2239P;LAMA3:NM_001127718:exon14:c.A1721C:p.Q574P;LAMA3:NM_001127717:exon51:c.A6548C:p.Q2183P;LAMA3:NM_000227:exon15:c.A1889C:p.Q630P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1889C:p.Q630P;ENSG00000053747:ENST00000587184:exon14:c.A1721C:p.Q574P;ENSG00000053747:ENST00000399516:exon51:c.A6548C:p.Q2183P;ENSG00000053747:ENST00000313654:exon52:c.A6716C:p.Q2239P;	0.582893910854415	0.546
18	21485586	A	G	18	23905622	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.A6716G:p.Q2239R;LAMA3:NM_001127718:exon14:c.A1721G:p.Q574R;LAMA3:NM_001127717:exon51:c.A6548G:p.Q2183R;LAMA3:NM_000227:exon15:c.A1889G:p.Q630R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1889G:p.Q630R;ENSG00000053747:ENST00000587184:exon14:c.A1721G:p.Q574R;ENSG00000053747:ENST00000399516:exon51:c.A6548G:p.Q2183R;ENSG00000053747:ENST00000313654:exon52:c.A6716G:p.Q2239R;	0.00702094777959828	0.116
18	21485586	A	T	18	23905622	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.A6716T:p.Q2239L;LAMA3:NM_001127718:exon14:c.A1721T:p.Q574L;LAMA3:NM_001127717:exon51:c.A6548T:p.Q2183L;LAMA3:NM_000227:exon15:c.A1889T:p.Q630L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1889T:p.Q630L;ENSG00000053747:ENST00000587184:exon14:c.A1721T:p.Q574L;ENSG00000053747:ENST00000399516:exon51:c.A6548T:p.Q2183L;ENSG00000053747:ENST00000313654:exon52:c.A6716T:p.Q2239L;	0.992358855972957	0.812
18	21485587	A	C	18	23905623	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.A6717C:p.Q2239H;LAMA3:NM_001127718:exon14:c.A1722C:p.Q574H;LAMA3:NM_001127717:exon51:c.A6549C:p.Q2183H;LAMA3:NM_000227:exon15:c.A1890C:p.Q630H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1890C:p.Q630H;ENSG00000053747:ENST00000587184:exon14:c.A1722C:p.Q574H;ENSG00000053747:ENST00000399516:exon51:c.A6549C:p.Q2183H;ENSG00000053747:ENST00000313654:exon52:c.A6717C:p.Q2239H;	0.999927737050556	0.998
18	21485587	A	G	18	23905623	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon52:c.A6717G:p.Q2239Q;LAMA3:NM_001127718:exon14:c.A1722G:p.Q574Q;LAMA3:NM_001127717:exon51:c.A6549G:p.Q2183Q;LAMA3:NM_000227:exon15:c.A1890G:p.Q630Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1890G:p.Q630Q;ENSG00000053747:ENST00000587184:exon14:c.A1722G:p.Q574Q;ENSG00000053747:ENST00000399516:exon51:c.A6549G:p.Q2183Q;ENSG00000053747:ENST00000313654:exon52:c.A6717G:p.Q2239Q;	0.980501721033393	0.896
18	21485587	A	T	18	23905623	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.A6717T:p.Q2239H;LAMA3:NM_001127718:exon14:c.A1722T:p.Q574H;LAMA3:NM_001127717:exon51:c.A6549T:p.Q2183H;LAMA3:NM_000227:exon15:c.A1890T:p.Q630H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.A1890T:p.Q630H;ENSG00000053747:ENST00000587184:exon14:c.A1722T:p.Q574H;ENSG00000053747:ENST00000399516:exon51:c.A6549T:p.Q2183H;ENSG00000053747:ENST00000313654:exon52:c.A6717T:p.Q2239H;	0.99997703783036	0.998
18	21485588	G	A	18	23905624	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.G6718A:p.E2240K;LAMA3:NM_001127718:exon14:c.G1723A:p.E575K;LAMA3:NM_001127717:exon51:c.G6550A:p.E2184K;LAMA3:NM_000227:exon15:c.G1891A:p.E631K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.G1891A:p.E631K;ENSG00000053747:ENST00000587184:exon14:c.G1723A:p.E575K;ENSG00000053747:ENST00000399516:exon51:c.G6550A:p.E2184K;ENSG00000053747:ENST00000313654:exon52:c.G6718A:p.E2240K;	0.999991895443016	1.0
18	21485588	G	C	18	23905624	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon52:c.G6718C:p.E2240Q;LAMA3:NM_001127718:exon14:c.G1723C:p.E575Q;LAMA3:NM_001127717:exon51:c.G6550C:p.E2184Q;LAMA3:NM_000227:exon15:c.G1891C:p.E631Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon15:c.G1891C:p.E631Q;ENSG00000053747:ENST00000587184:exon14:c.G1723C:p.E575Q;ENSG00000053747:ENST00000399516:exon51:c.G6550C:p.E2184Q;ENSG00000053747:ENST00000313654:exon52:c.G6718C:p.E2240Q;	0.999997448025991	1.0
18	21485588	G	T	18	23905624	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon52:c.G6718T:p.E2240X;LAMA3:NM_001127718:exon14:c.G1723T:p.E575X;LAMA3:NM_001127717:exon51:c.G6550T:p.E2184X;LAMA3:NM_000227:exon15:c.G1891T:p.E631X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon15:c.G1891T:p.E631X;ENSG00000053747:ENST00000587184:exon14:c.G1723T:p.E575X;ENSG00000053747:ENST00000399516:exon51:c.G6550T:p.E2184X;ENSG00000053747:ENST00000313654:exon52:c.G6718T:p.E2240X;	0.999989845216487	0.918
18	21485589	G	A	18	23905625	y	y	splicing	LAMA3(NM_001127717:exon51:c.6550+1G>A;NM_198129:exon52:c.6718+1G>A;NM_001127718:exon14:c.1723+1G>A;NM_000227:exon15:c.1891+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6718+1G>A;ENST00000399516:exon51:c.6550+1G>A;ENST00000269217:exon15:c.1891+1G>A;ENST00000587184:exon14:c.1723+1G>A;ENST00000586751:exon12:c.1496+1G>A)	.	.	0.999981760802075	0.958
18	21485589	G	C	18	23905625	y	y	splicing	LAMA3(NM_001127717:exon51:c.6550+1G>C;NM_198129:exon52:c.6718+1G>C;NM_001127718:exon14:c.1723+1G>C;NM_000227:exon15:c.1891+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6718+1G>C;ENST00000399516:exon51:c.6550+1G>C;ENST00000269217:exon15:c.1891+1G>C;ENST00000587184:exon14:c.1723+1G>C;ENST00000586751:exon12:c.1496+1G>C)	.	.	0.999981760802075	0.958
18	21485589	G	T	18	23905625	y	y	splicing	LAMA3(NM_001127717:exon51:c.6550+1G>T;NM_198129:exon52:c.6718+1G>T;NM_001127718:exon14:c.1723+1G>T;NM_000227:exon15:c.1891+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6718+1G>T;ENST00000399516:exon51:c.6550+1G>T;ENST00000269217:exon15:c.1891+1G>T;ENST00000587184:exon14:c.1723+1G>T;ENST00000586751:exon12:c.1496+1G>T)	.	.	0.999981760802075	0.958
18	21485590	T	A	18	23905626	y	y	splicing	LAMA3(NM_001127717:exon51:c.6550+2T>A;NM_198129:exon52:c.6718+2T>A;NM_001127718:exon14:c.1723+2T>A;NM_000227:exon15:c.1891+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6718+2T>A;ENST00000399516:exon51:c.6550+2T>A;ENST00000269217:exon15:c.1891+2T>A;ENST00000587184:exon14:c.1723+2T>A;ENST00000586751:exon12:c.1496+2T>A)	.	.	0.999989917668626	0.948
18	21485590	T	C	18	23905626	y	y	splicing	LAMA3(NM_001127717:exon51:c.6550+2T>C;NM_198129:exon52:c.6718+2T>C;NM_001127718:exon14:c.1723+2T>C;NM_000227:exon15:c.1891+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6718+2T>C;ENST00000399516:exon51:c.6550+2T>C;ENST00000269217:exon15:c.1891+2T>C;ENST00000587184:exon14:c.1723+2T>C;ENST00000586751:exon12:c.1496+2T>C)	.	.	0.992323021482646	0.648
18	21485590	T	G	18	23905626	y	y	splicing	LAMA3(NM_001127717:exon51:c.6550+2T>G;NM_198129:exon52:c.6718+2T>G;NM_001127718:exon14:c.1723+2T>G;NM_000227:exon15:c.1891+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon52:c.6718+2T>G;ENST00000399516:exon51:c.6550+2T>G;ENST00000269217:exon15:c.1891+2T>G;ENST00000587184:exon14:c.1723+2T>G;ENST00000586751:exon12:c.1496+2T>G)	.	.	0.999989917668626	0.948
18	21485591	A	C	18	23905627	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999867165124193	0.948
18	21485591	A	G	18	23905627	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999450645459542	0.934
18	21485591	A	T	18	23905627	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999930154338682	0.982
18	21485592	T	A	18	23905628	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.13686903435623E-5	0.016
18	21485592	T	C	18	23905628	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.84356926396322E-5	0.01
18	21485592	T	G	18	23905628	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.72040340771644E-5	0.05
18	21485593	T	A	18	23905629	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.07684514939546E-5	0.01
18	21485593	T	C	18	23905629	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.77014025371756E-5	0.0
18	21485593	T	G	18	23905629	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.19987809018971E-5	0.002
18	21485594	A	C	18	23905630	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00120961070655456	0.108
18	21485594	A	G	18	23905630	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.99484321298915E-5	0.0
18	21485594	A	T	18	23905630	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.83836819318263E-5	0.076
18	21485595	G	A	18	23905631	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.12038373957544E-5	0.002
18	21485595	G	C	18	23905631	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.83810401164446E-6	0.0
18	21485595	G	T	18	23905631	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.36372218734878E-6	0.002
18	21485596	G	A	18	23905632	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.81233703558031E-5	0.0
18	21485596	G	C	18	23905632	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.6354943415786E-5	0.004
18	21485596	G	T	18	23905632	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.96928882742372E-5	0.0
18	21487502	A	C	18	23907538	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.58039233299715E-6	0.0
18	21487502	A	G	18	23907538	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.15332145731046E-5	0.018
18	21487502	A	T	18	23907538	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.10049419391536E-5	0.01
18	21487503	T	A	18	23907539	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0431979625138497	0.35
18	21487503	T	C	18	23907539	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.82573210964652E-4	0.026
18	21487503	T	G	18	23907539	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998512927074138	0.876
18	21487504	T	A	18	23907540	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0172583746899287	0.392
18	21487504	T	C	18	23907540	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.01061534535459E-4	0.002
18	21487504	T	G	18	23907540	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0422956110677143	0.392
18	21487505	T	A	18	23907541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.010262482335717	0.228
18	21487505	T	C	18	23907541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.04356762847628E-4	0.004
18	21487505	T	G	18	23907541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0105422256468898	0.252
18	21487506	T	A	18	23907542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00794914492390982	0.284
18	21487506	T	C	18	23907542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.30895689696753E-5	0.002
18	21487506	T	G	18	23907542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00581515647822089	0.326
18	21487507	A	C	18	23907543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.55595261847607E-5	0.006
18	21487507	A	G	18	23907543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.44451972542327E-6	0.002
18	21487507	A	T	18	23907543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.56532441138613E-5	0.006
18	21487508	T	A	18	23907544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0998897472883366	0.47
18	21487508	T	C	18	23907544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.50578134675043E-5	0.004
18	21487508	T	G	18	23907544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999760196800498	0.962
18	21487509	T	A	18	23907545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.684161645161884	0.478
18	21487509	T	C	18	23907545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00408257282876478	0.094
18	21487509	T	G	18	23907545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.69911142080532	0.458
18	21487510	T	A	18	23907546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.52291401556778E-5	0.04
18	21487510	T	C	18	23907546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.36809456945056E-6	0.004
18	21487510	T	G	18	23907546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.94950134238114E-5	0.004
18	21487511	T	A	18	23907547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0273284224831264	0.272
18	21487511	T	C	18	23907547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.94581175961204E-6	0.038
18	21487511	T	G	18	23907547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.816175408744958	0.658
18	21487512	A	C	18	23907548	y	y	splicing	LAMA3(NM_001127717:exon52:c.6551-2A>C;NM_198129:exon53:c.6719-2A>C;NM_001127718:exon15:c.1724-2A>C;NM_000227:exon16:c.1892-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6719-2A>C;ENST00000399516:exon52:c.6551-2A>C;ENST00000269217:exon16:c.1892-2A>C;ENST00000587184:exon15:c.1724-2A>C;ENST00000586751:exon13:c.1497-2A>C)	.	.	0.999951957019574	0.878
18	21487512	A	G	18	23907548	y	y	splicing	LAMA3(NM_001127717:exon52:c.6551-2A>G;NM_198129:exon53:c.6719-2A>G;NM_001127718:exon15:c.1724-2A>G;NM_000227:exon16:c.1892-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6719-2A>G;ENST00000399516:exon52:c.6551-2A>G;ENST00000269217:exon16:c.1892-2A>G;ENST00000587184:exon15:c.1724-2A>G;ENST00000586751:exon13:c.1497-2A>G)	.	.	0.999951957019574	0.894
18	21487512	A	T	18	23907548	y	y	splicing	LAMA3(NM_001127717:exon52:c.6551-2A>T;NM_198129:exon53:c.6719-2A>T;NM_001127718:exon15:c.1724-2A>T;NM_000227:exon16:c.1892-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6719-2A>T;ENST00000399516:exon52:c.6551-2A>T;ENST00000269217:exon16:c.1892-2A>T;ENST00000587184:exon15:c.1724-2A>T;ENST00000586751:exon13:c.1497-2A>T)	.	.	0.999964896440643	0.932
18	21487513	G	A	18	23907549	y	y	splicing	LAMA3(NM_001127717:exon52:c.6551-1G>A;NM_198129:exon53:c.6719-1G>A;NM_001127718:exon15:c.1724-1G>A;NM_000227:exon16:c.1892-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6719-1G>A;ENST00000399516:exon52:c.6551-1G>A;ENST00000269217:exon16:c.1892-1G>A;ENST00000587184:exon15:c.1724-1G>A;ENST00000586751:exon13:c.1497-1G>A)	.	.	0.999956786857988	0.938
18	21487513	G	C	18	23907549	y	y	splicing	LAMA3(NM_001127717:exon52:c.6551-1G>C;NM_198129:exon53:c.6719-1G>C;NM_001127718:exon15:c.1724-1G>C;NM_000227:exon16:c.1892-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6719-1G>C;ENST00000399516:exon52:c.6551-1G>C;ENST00000269217:exon16:c.1892-1G>C;ENST00000587184:exon15:c.1724-1G>C;ENST00000586751:exon13:c.1497-1G>C)	.	.	0.999955279531929	0.932
18	21487513	G	T	18	23907549	y	y	splicing	LAMA3(NM_001127717:exon52:c.6551-1G>T;NM_198129:exon53:c.6719-1G>T;NM_001127718:exon15:c.1724-1G>T;NM_000227:exon16:c.1892-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6719-1G>T;ENST00000399516:exon52:c.6551-1G>T;ENST00000269217:exon16:c.1892-1G>T;ENST00000587184:exon15:c.1724-1G>T;ENST00000586751:exon13:c.1497-1G>T)	.	.	0.999956786857988	0.938
18	21487514	A	C	18	23907550	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.A6719C:p.E2240A;LAMA3:NM_001127718:exon15:c.A1724C:p.E575A;LAMA3:NM_001127717:exon52:c.A6551C:p.E2184A;LAMA3:NM_000227:exon16:c.A1892C:p.E631A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A1892C:p.E631A;ENSG00000053747:ENST00000587184:exon15:c.A1724C:p.E575A;ENSG00000053747:ENST00000399516:exon52:c.A6551C:p.E2184A;ENSG00000053747:ENST00000313654:exon53:c.A6719C:p.E2240A;	0.00241749537966573	0.086
18	21487514	A	G	18	23907550	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.A6719G:p.E2240G;LAMA3:NM_001127718:exon15:c.A1724G:p.E575G;LAMA3:NM_001127717:exon52:c.A6551G:p.E2184G;LAMA3:NM_000227:exon16:c.A1892G:p.E631G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A1892G:p.E631G;ENSG00000053747:ENST00000587184:exon15:c.A1724G:p.E575G;ENSG00000053747:ENST00000399516:exon52:c.A6551G:p.E2184G;ENSG00000053747:ENST00000313654:exon53:c.A6719G:p.E2240G;	8.93438468505534E-4	0.016
18	21487514	A	T	18	23907550	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.A6719T:p.E2240V;LAMA3:NM_001127718:exon15:c.A1724T:p.E575V;LAMA3:NM_001127717:exon52:c.A6551T:p.E2184V;LAMA3:NM_000227:exon16:c.A1892T:p.E631V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A1892T:p.E631V;ENSG00000053747:ENST00000587184:exon15:c.A1724T:p.E575V;ENSG00000053747:ENST00000399516:exon52:c.A6551T:p.E2184V;ENSG00000053747:ENST00000313654:exon53:c.A6719T:p.E2240V;	0.0169323275209294	0.166
18	21487515	A	C	18	23907551	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.A6720C:p.E2240D;LAMA3:NM_001127718:exon15:c.A1725C:p.E575D;LAMA3:NM_001127717:exon52:c.A6552C:p.E2184D;LAMA3:NM_000227:exon16:c.A1893C:p.E631D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A1893C:p.E631D;ENSG00000053747:ENST00000587184:exon15:c.A1725C:p.E575D;ENSG00000053747:ENST00000399516:exon52:c.A6552C:p.E2184D;ENSG00000053747:ENST00000313654:exon53:c.A6720C:p.E2240D;	4.78261518550069E-4	0.024
18	21487515	A	G	18	23907551	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon53:c.A6720G:p.E2240E;LAMA3:NM_001127718:exon15:c.A1725G:p.E575E;LAMA3:NM_001127717:exon52:c.A6552G:p.E2184E;LAMA3:NM_000227:exon16:c.A1893G:p.E631E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A1893G:p.E631E;ENSG00000053747:ENST00000587184:exon15:c.A1725G:p.E575E;ENSG00000053747:ENST00000399516:exon52:c.A6552G:p.E2184E;ENSG00000053747:ENST00000313654:exon53:c.A6720G:p.E2240E;	4.95803907398558E-4	0.014
18	21487515	A	T	18	23907551	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.A6720T:p.E2240D;LAMA3:NM_001127718:exon15:c.A1725T:p.E575D;LAMA3:NM_001127717:exon52:c.A6552T:p.E2184D;LAMA3:NM_000227:exon16:c.A1893T:p.E631D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A1893T:p.E631D;ENSG00000053747:ENST00000587184:exon15:c.A1725T:p.E575D;ENSG00000053747:ENST00000399516:exon52:c.A6552T:p.E2184D;ENSG00000053747:ENST00000313654:exon53:c.A6720T:p.E2240D;	1.83671506124736E-4	0.024
18	21487628	G	A	18	23907664	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.G6833A:p.R2278K;LAMA3:NM_001127718:exon15:c.G1838A:p.R613K;LAMA3:NM_001127717:exon52:c.G6665A:p.R2222K;LAMA3:NM_000227:exon16:c.G2006A:p.R669K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.G2006A:p.R669K;ENSG00000053747:ENST00000587184:exon15:c.G1838A:p.R613K;ENSG00000053747:ENST00000399516:exon52:c.G6665A:p.R2222K;ENSG00000053747:ENST00000313654:exon53:c.G6833A:p.R2278K;	0.96124664325754	0.67
18	21487628	G	C	18	23907664	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.G6833C:p.R2278T;LAMA3:NM_001127718:exon15:c.G1838C:p.R613T;LAMA3:NM_001127717:exon52:c.G6665C:p.R2222T;LAMA3:NM_000227:exon16:c.G2006C:p.R669T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.G2006C:p.R669T;ENSG00000053747:ENST00000587184:exon15:c.G1838C:p.R613T;ENSG00000053747:ENST00000399516:exon52:c.G6665C:p.R2222T;ENSG00000053747:ENST00000313654:exon53:c.G6833C:p.R2278T;	0.965626613614197	0.728
18	21487628	G	T	18	23907664	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.G6833T:p.R2278I;LAMA3:NM_001127718:exon15:c.G1838T:p.R613I;LAMA3:NM_001127717:exon52:c.G6665T:p.R2222I;LAMA3:NM_000227:exon16:c.G2006T:p.R669I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.G2006T:p.R669I;ENSG00000053747:ENST00000587184:exon15:c.G1838T:p.R613I;ENSG00000053747:ENST00000399516:exon52:c.G6665T:p.R2222I;ENSG00000053747:ENST00000313654:exon53:c.G6833T:p.R2278I;	0.99752547875323	0.71
18	21487629	A	C	18	23907665	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.A6834C:p.R2278S;LAMA3:NM_001127718:exon15:c.A1839C:p.R613S;LAMA3:NM_001127717:exon52:c.A6666C:p.R2222S;LAMA3:NM_000227:exon16:c.A2007C:p.R669S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A2007C:p.R669S;ENSG00000053747:ENST00000587184:exon15:c.A1839C:p.R613S;ENSG00000053747:ENST00000399516:exon52:c.A6666C:p.R2222S;ENSG00000053747:ENST00000313654:exon53:c.A6834C:p.R2278S;	0.999794149653037	0.97
18	21487629	A	G	18	23907665	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon53:c.A6834G:p.R2278R;LAMA3:NM_001127718:exon15:c.A1839G:p.R613R;LAMA3:NM_001127717:exon52:c.A6666G:p.R2222R;LAMA3:NM_000227:exon16:c.A2007G:p.R669R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A2007G:p.R669R;ENSG00000053747:ENST00000587184:exon15:c.A1839G:p.R613R;ENSG00000053747:ENST00000399516:exon52:c.A6666G:p.R2222R;ENSG00000053747:ENST00000313654:exon53:c.A6834G:p.R2278R;	0.999258345053881	0.824
18	21487629	A	T	18	23907665	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.A6834T:p.R2278S;LAMA3:NM_001127718:exon15:c.A1839T:p.R613S;LAMA3:NM_001127717:exon52:c.A6666T:p.R2222S;LAMA3:NM_000227:exon16:c.A2007T:p.R669S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.A2007T:p.R669S;ENSG00000053747:ENST00000587184:exon15:c.A1839T:p.R613S;ENSG00000053747:ENST00000399516:exon52:c.A6666T:p.R2222S;ENSG00000053747:ENST00000313654:exon53:c.A6834T:p.R2278S;	0.9999346080233	0.984
18	21487630	G	A	18	23907666	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.G6835A:p.G2279S;LAMA3:NM_001127718:exon15:c.G1840A:p.G614S;LAMA3:NM_001127717:exon52:c.G6667A:p.G2223S;LAMA3:NM_000227:exon16:c.G2008A:p.G670S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.G2008A:p.G670S;ENSG00000053747:ENST00000587184:exon15:c.G1840A:p.G614S;ENSG00000053747:ENST00000399516:exon52:c.G6667A:p.G2223S;ENSG00000053747:ENST00000313654:exon53:c.G6835A:p.G2279S;	0.999994976720378	0.978
18	21487630	G	C	18	23907666	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.G6835C:p.G2279R;LAMA3:NM_001127718:exon15:c.G1840C:p.G614R;LAMA3:NM_001127717:exon52:c.G6667C:p.G2223R;LAMA3:NM_000227:exon16:c.G2008C:p.G670R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.G2008C:p.G670R;ENSG00000053747:ENST00000587184:exon15:c.G1840C:p.G614R;ENSG00000053747:ENST00000399516:exon52:c.G6667C:p.G2223R;ENSG00000053747:ENST00000313654:exon53:c.G6835C:p.G2279R;	0.999997668522844	0.968
18	21487630	G	T	18	23907666	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon53:c.G6835T:p.G2279C;LAMA3:NM_001127718:exon15:c.G1840T:p.G614C;LAMA3:NM_001127717:exon52:c.G6667T:p.G2223C;LAMA3:NM_000227:exon16:c.G2008T:p.G670C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon16:c.G2008T:p.G670C;ENSG00000053747:ENST00000587184:exon15:c.G1840T:p.G614C;ENSG00000053747:ENST00000399516:exon52:c.G6667T:p.G2223C;ENSG00000053747:ENST00000313654:exon53:c.G6835T:p.G2279C;	0.999992270065273	0.958
18	21487631	G	A	18	23907667	y	y	splicing	LAMA3(NM_001127717:exon52:c.6667+1G>A;NM_198129:exon53:c.6835+1G>A;NM_001127718:exon15:c.1840+1G>A;NM_000227:exon16:c.2008+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6835+1G>A;ENST00000399516:exon52:c.6667+1G>A;ENST00000269217:exon16:c.2008+1G>A;ENST00000587184:exon15:c.1840+1G>A;ENST00000586751:exon13:c.1613+1G>A)	.	.	0.999985532734767	0.952
18	21487631	G	C	18	23907667	y	y	splicing	LAMA3(NM_001127717:exon52:c.6667+1G>C;NM_198129:exon53:c.6835+1G>C;NM_001127718:exon15:c.1840+1G>C;NM_000227:exon16:c.2008+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6835+1G>C;ENST00000399516:exon52:c.6667+1G>C;ENST00000269217:exon16:c.2008+1G>C;ENST00000587184:exon15:c.1840+1G>C;ENST00000586751:exon13:c.1613+1G>C)	.	.	0.999985532734767	0.952
18	21487631	G	T	18	23907667	y	y	splicing	LAMA3(NM_001127717:exon52:c.6667+1G>T;NM_198129:exon53:c.6835+1G>T;NM_001127718:exon15:c.1840+1G>T;NM_000227:exon16:c.2008+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6835+1G>T;ENST00000399516:exon52:c.6667+1G>T;ENST00000269217:exon16:c.2008+1G>T;ENST00000587184:exon15:c.1840+1G>T;ENST00000586751:exon13:c.1613+1G>T)	.	.	0.999985532734767	0.946
18	21487632	T	A	18	23907668	y	y	splicing	LAMA3(NM_001127717:exon52:c.6667+2T>A;NM_198129:exon53:c.6835+2T>A;NM_001127718:exon15:c.1840+2T>A;NM_000227:exon16:c.2008+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6835+2T>A;ENST00000399516:exon52:c.6667+2T>A;ENST00000269217:exon16:c.2008+2T>A;ENST00000587184:exon15:c.1840+2T>A;ENST00000586751:exon13:c.1613+2T>A)	.	.	0.999988247793601	0.954
18	21487632	T	C	18	23907668	y	y	splicing	LAMA3(NM_001127717:exon52:c.6667+2T>C;NM_198129:exon53:c.6835+2T>C;NM_001127718:exon15:c.1840+2T>C;NM_000227:exon16:c.2008+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6835+2T>C;ENST00000399516:exon52:c.6667+2T>C;ENST00000269217:exon16:c.2008+2T>C;ENST00000587184:exon15:c.1840+2T>C;ENST00000586751:exon13:c.1613+2T>C)	.	.	0.99991522016916	0.91
18	21487632	T	G	18	23907668	y	y	splicing	LAMA3(NM_001127717:exon52:c.6667+2T>G;NM_198129:exon53:c.6835+2T>G;NM_001127718:exon15:c.1840+2T>G;NM_000227:exon16:c.2008+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon53:c.6835+2T>G;ENST00000399516:exon52:c.6667+2T>G;ENST00000269217:exon16:c.2008+2T>G;ENST00000587184:exon15:c.1840+2T>G;ENST00000586751:exon13:c.1613+2T>G)	.	.	0.999988247793601	0.954
18	21487633	C	A	18	23907669	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.87552221114362E-5	0.024
18	21487633	C	G	18	23907669	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.60038437059646E-5	0.042
18	21487633	C	T	18	23907669	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.15674303057798E-4	0.01
18	21487634	A	C	18	23907670	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.874453440398126	0.648
18	21487634	A	G	18	23907670	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.689660252823491	0.55
18	21487634	A	T	18	23907670	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.657536719508478	0.578
18	21487635	G	A	18	23907671	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99979030359285	0.714
18	21487635	G	C	18	23907671	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999753856983645	0.724
18	21487635	G	T	18	23907671	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999690734204491	0.656
18	21487636	C	A	18	23907672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.32112608661612E-5	0.048
18	21487636	C	G	18	23907672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.14086434297384E-4	0.126
18	21487636	C	T	18	23907672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.20205207055138E-5	0.03
18	21487637	A	C	18	23907673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.05404367345154E-4	0.002
18	21487637	A	G	18	23907673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.84104270910766E-4	0.002
18	21487637	A	T	18	23907673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.1277170512628E-4	0.036
18	21487638	T	A	18	23907674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.6153271628034E-5	0.002
18	21487638	T	C	18	23907674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.13687572334883E-5	0.0
18	21487638	T	G	18	23907674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.31893724403043E-5	0.0
18	21487708	T	A	18	23907744	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999601770892414	0.974
18	21487708	T	C	18	23907744	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.53125057030623E-4	0.052
18	21487708	T	G	18	23907744	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.42511768023284	0.508
18	21487709	G	A	18	23907745	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00177811477688885	0.122
18	21487709	G	C	18	23907745	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.48501231745476E-5	0.02
18	21487709	G	T	18	23907745	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.14666371005982E-4	0.138
18	21487710	T	A	18	23907746	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999851096872693	0.966
18	21487710	T	C	18	23907746	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0058680858406422	0.186
18	21487710	T	G	18	23907746	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.923510777944873	0.676
18	21487711	G	A	18	23907747	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00132810420169401	0.1
18	21487711	G	C	18	23907747	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.9378056763586E-5	0.03
18	21487711	G	T	18	23907747	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.89627038484666E-5	0.078
18	21487712	T	A	18	23907748	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999902602175407	0.97
18	21487712	T	C	18	23907748	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.64639805174763E-4	0.092
18	21487712	T	G	18	23907748	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0167010143815208	0.422
18	21487713	G	A	18	23907749	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.44250700130428E-4	0.012
18	21487713	G	C	18	23907749	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45503900667517E-5	0.0
18	21487713	G	T	18	23907749	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45503900667517E-5	0.024
18	21487714	C	A	18	23907750	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00195615133407599	0.212
18	21487714	C	G	18	23907750	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00124786340416496	0.198
18	21487714	C	T	18	23907750	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.08581805545584E-5	0.016
18	21487715	A	C	18	23907751	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.83643701966011E-5	0.024
18	21487715	A	G	18	23907751	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38006492821041E-4	0.012
18	21487715	A	T	18	23907751	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.83643701966011E-5	0.032
18	21487716	T	A	18	23907752	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.67276785950616E-5	0.016
18	21487716	T	C	18	23907752	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.24824219232719E-5	0.112
18	21487716	T	G	18	23907752	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.877447824960968	0.714
18	21487717	T	A	18	23907753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.100243517794796	0.41
18	21487717	T	C	18	23907753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.55250497782556E-5	0.066
18	21487717	T	G	18	23907753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.898092147837446	0.636
18	21487718	A	C	18	23907754	y	y	splicing	LAMA3(NM_001127717:exon53:c.6668-2A>C;NM_198129:exon54:c.6836-2A>C;NM_001127718:exon16:c.1841-2A>C;NM_000227:exon17:c.2009-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.6836-2A>C;ENST00000399516:exon53:c.6668-2A>C;ENST00000269217:exon17:c.2009-2A>C;ENST00000587184:exon16:c.1841-2A>C;ENST00000586751:exon14:c.1614-2A>C)	.	.	0.999965314197099	0.89
18	21487718	A	G	18	23907754	y	y	splicing	LAMA3(NM_001127717:exon53:c.6668-2A>G;NM_198129:exon54:c.6836-2A>G;NM_001127718:exon16:c.1841-2A>G;NM_000227:exon17:c.2009-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.6836-2A>G;ENST00000399516:exon53:c.6668-2A>G;ENST00000269217:exon17:c.2009-2A>G;ENST00000587184:exon16:c.1841-2A>G;ENST00000586751:exon14:c.1614-2A>G)	.	.	0.999965314197099	0.886
18	21487718	A	T	18	23907754	y	y	splicing	LAMA3(NM_001127717:exon53:c.6668-2A>T;NM_198129:exon54:c.6836-2A>T;NM_001127718:exon16:c.1841-2A>T;NM_000227:exon17:c.2009-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.6836-2A>T;ENST00000399516:exon53:c.6668-2A>T;ENST00000269217:exon17:c.2009-2A>T;ENST00000587184:exon16:c.1841-2A>T;ENST00000586751:exon14:c.1614-2A>T)	.	.	0.999969393053703	0.916
18	21487719	G	A	18	23907755	y	y	splicing	LAMA3(NM_001127717:exon53:c.6668-1G>A;NM_198129:exon54:c.6836-1G>A;NM_001127718:exon16:c.1841-1G>A;NM_000227:exon17:c.2009-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.6836-1G>A;ENST00000399516:exon53:c.6668-1G>A;ENST00000269217:exon17:c.2009-1G>A;ENST00000587184:exon16:c.1841-1G>A;ENST00000586751:exon14:c.1614-1G>A)	.	.	0.999973459734236	0.918
18	21487719	G	C	18	23907755	y	y	splicing	LAMA3(NM_001127717:exon53:c.6668-1G>C;NM_198129:exon54:c.6836-1G>C;NM_001127718:exon16:c.1841-1G>C;NM_000227:exon17:c.2009-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.6836-1G>C;ENST00000399516:exon53:c.6668-1G>C;ENST00000269217:exon17:c.2009-1G>C;ENST00000587184:exon16:c.1841-1G>C;ENST00000586751:exon14:c.1614-1G>C)	.	.	0.999974234781627	0.886
18	21487719	G	T	18	23907755	y	y	splicing	LAMA3(NM_001127717:exon53:c.6668-1G>T;NM_198129:exon54:c.6836-1G>T;NM_001127718:exon16:c.1841-1G>T;NM_000227:exon17:c.2009-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.6836-1G>T;ENST00000399516:exon53:c.6668-1G>T;ENST00000269217:exon17:c.2009-1G>T;ENST00000587184:exon16:c.1841-1G>T;ENST00000586751:exon14:c.1614-1G>T)	.	.	0.999973459734236	0.918
18	21487720	G	A	18	23907756	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon54:c.G6836A:p.G2279D;LAMA3:NM_001127718:exon16:c.G1841A:p.G614D;LAMA3:NM_001127717:exon53:c.G6668A:p.G2223D;LAMA3:NM_000227:exon17:c.G2009A:p.G670D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2009A:p.G670D;ENSG00000053747:ENST00000587184:exon16:c.G1841A:p.G614D;ENSG00000053747:ENST00000399516:exon53:c.G6668A:p.G2223D;ENSG00000053747:ENST00000313654:exon54:c.G6836A:p.G2279D;	0.00249838960018107	0.36
18	21487720	G	C	18	23907756	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon54:c.G6836C:p.G2279A;LAMA3:NM_001127718:exon16:c.G1841C:p.G614A;LAMA3:NM_001127717:exon53:c.G6668C:p.G2223A;LAMA3:NM_000227:exon17:c.G2009C:p.G670A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2009C:p.G670A;ENSG00000053747:ENST00000587184:exon16:c.G1841C:p.G614A;ENSG00000053747:ENST00000399516:exon53:c.G6668C:p.G2223A;ENSG00000053747:ENST00000313654:exon54:c.G6836C:p.G2279A;	0.640358794346444	0.618
18	21487720	G	T	18	23907756	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon54:c.G6836T:p.G2279V;LAMA3:NM_001127718:exon16:c.G1841T:p.G614V;LAMA3:NM_001127717:exon53:c.G6668T:p.G2223V;LAMA3:NM_000227:exon17:c.G2009T:p.G670V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2009T:p.G670V;ENSG00000053747:ENST00000587184:exon16:c.G1841T:p.G614V;ENSG00000053747:ENST00000399516:exon53:c.G6668T:p.G2223V;ENSG00000053747:ENST00000313654:exon54:c.G6836T:p.G2279V;	0.983250891754875	0.832
18	21487721	T	A	18	23907757	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon54:c.T6837A:p.G2279G;LAMA3:NM_001127718:exon16:c.T1842A:p.G614G;LAMA3:NM_001127717:exon53:c.T6669A:p.G2223G;LAMA3:NM_000227:exon17:c.T2010A:p.G670G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.T2010A:p.G670G;ENSG00000053747:ENST00000587184:exon16:c.T1842A:p.G614G;ENSG00000053747:ENST00000399516:exon53:c.T6669A:p.G2223G;ENSG00000053747:ENST00000313654:exon54:c.T6837A:p.G2279G;	1.14240527189619E-4	0.066
18	21487721	T	C	18	23907757	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon54:c.T6837C:p.G2279G;LAMA3:NM_001127718:exon16:c.T1842C:p.G614G;LAMA3:NM_001127717:exon53:c.T6669C:p.G2223G;LAMA3:NM_000227:exon17:c.T2010C:p.G670G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.T2010C:p.G670G;ENSG00000053747:ENST00000587184:exon16:c.T1842C:p.G614G;ENSG00000053747:ENST00000399516:exon53:c.T6669C:p.G2223G;ENSG00000053747:ENST00000313654:exon54:c.T6837C:p.G2279G;	1.66634212776427E-4	0.068
18	21487721	T	G	18	23907757	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon54:c.T6837G:p.G2279G;LAMA3:NM_001127718:exon16:c.T1842G:p.G614G;LAMA3:NM_001127717:exon53:c.T6669G:p.G2223G;LAMA3:NM_000227:exon17:c.T2010G:p.G670G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.T2010G:p.G670G;ENSG00000053747:ENST00000587184:exon16:c.T1842G:p.G614G;ENSG00000053747:ENST00000399516:exon53:c.T6669G:p.G2223G;ENSG00000053747:ENST00000313654:exon54:c.T6837G:p.G2279G;	9.26295098266976E-5	0.026
18	21487897	C	A	18	23907933	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon54:c.C7013A:p.S2338X;LAMA3:NM_001127718:exon16:c.C2018A:p.S673X;LAMA3:NM_001127717:exon53:c.C6845A:p.S2282X;LAMA3:NM_000227:exon17:c.C2186A:p.S729X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon17:c.C2186A:p.S729X;ENSG00000053747:ENST00000587184:exon16:c.C2018A:p.S673X;ENSG00000053747:ENST00000399516:exon53:c.C6845A:p.S2282X;ENSG00000053747:ENST00000313654:exon54:c.C7013A:p.S2338X;	0.942889666145157	0.728
18	21487897	C	G	18	23907933	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon54:c.C7013G:p.S2338W;LAMA3:NM_001127718:exon16:c.C2018G:p.S673W;LAMA3:NM_001127717:exon53:c.C6845G:p.S2282W;LAMA3:NM_000227:exon17:c.C2186G:p.S729W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.C2186G:p.S729W;ENSG00000053747:ENST00000587184:exon16:c.C2018G:p.S673W;ENSG00000053747:ENST00000399516:exon53:c.C6845G:p.S2282W;ENSG00000053747:ENST00000313654:exon54:c.C7013G:p.S2338W;	0.980522309740849	0.728
18	21487897	C	T	18	23907933	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon54:c.C7013T:p.S2338L;LAMA3:NM_001127718:exon16:c.C2018T:p.S673L;LAMA3:NM_001127717:exon53:c.C6845T:p.S2282L;LAMA3:NM_000227:exon17:c.C2186T:p.S729L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.C2186T:p.S729L;ENSG00000053747:ENST00000587184:exon16:c.C2018T:p.S673L;ENSG00000053747:ENST00000399516:exon53:c.C6845T:p.S2282L;ENSG00000053747:ENST00000313654:exon54:c.C7013T:p.S2338L;	0.999639650161315	0.934
18	21487898	G	A	18	23907934	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon54:c.G7014A:p.S2338S;LAMA3:NM_001127718:exon16:c.G2019A:p.S673S;LAMA3:NM_001127717:exon53:c.G6846A:p.S2282S;LAMA3:NM_000227:exon17:c.G2187A:p.S729S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2187A:p.S729S;ENSG00000053747:ENST00000587184:exon16:c.G2019A:p.S673S;ENSG00000053747:ENST00000399516:exon53:c.G6846A:p.S2282S;ENSG00000053747:ENST00000313654:exon54:c.G7014A:p.S2338S;	5.35690472414465E-5	0.02
18	21487898	G	C	18	23907934	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon54:c.G7014C:p.S2338S;LAMA3:NM_001127718:exon16:c.G2019C:p.S673S;LAMA3:NM_001127717:exon53:c.G6846C:p.S2282S;LAMA3:NM_000227:exon17:c.G2187C:p.S729S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2187C:p.S729S;ENSG00000053747:ENST00000587184:exon16:c.G2019C:p.S673S;ENSG00000053747:ENST00000399516:exon53:c.G6846C:p.S2282S;ENSG00000053747:ENST00000313654:exon54:c.G7014C:p.S2338S;	1.8669985673637E-5	0.006
18	21487898	G	T	18	23907934	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon54:c.G7014T:p.S2338S;LAMA3:NM_001127718:exon16:c.G2019T:p.S673S;LAMA3:NM_001127717:exon53:c.G6846T:p.S2282S;LAMA3:NM_000227:exon17:c.G2187T:p.S729S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2187T:p.S729S;ENSG00000053747:ENST00000587184:exon16:c.G2019T:p.S673S;ENSG00000053747:ENST00000399516:exon53:c.G6846T:p.S2282S;ENSG00000053747:ENST00000313654:exon54:c.G7014T:p.S2338S;	0.00559683680344338	0.08
18	21487899	G	A	18	23907935	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon54:c.G7015A:p.V2339M;LAMA3:NM_001127718:exon16:c.G2020A:p.V674M;LAMA3:NM_001127717:exon53:c.G6847A:p.V2283M;LAMA3:NM_000227:exon17:c.G2188A:p.V730M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2188A:p.V730M;ENSG00000053747:ENST00000587184:exon16:c.G2020A:p.V674M;ENSG00000053747:ENST00000399516:exon53:c.G6847A:p.V2283M;ENSG00000053747:ENST00000313654:exon54:c.G7015A:p.V2339M;	0.999969733104059	0.99
18	21487899	G	C	18	23907935	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon54:c.G7015C:p.V2339L;LAMA3:NM_001127718:exon16:c.G2020C:p.V674L;LAMA3:NM_001127717:exon53:c.G6847C:p.V2283L;LAMA3:NM_000227:exon17:c.G2188C:p.V730L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2188C:p.V730L;ENSG00000053747:ENST00000587184:exon16:c.G2020C:p.V674L;ENSG00000053747:ENST00000399516:exon53:c.G6847C:p.V2283L;ENSG00000053747:ENST00000313654:exon54:c.G7015C:p.V2339L;	0.99998335287708	0.982
18	21487899	G	T	18	23907935	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon54:c.G7015T:p.V2339L;LAMA3:NM_001127718:exon16:c.G2020T:p.V674L;LAMA3:NM_001127717:exon53:c.G6847T:p.V2283L;LAMA3:NM_000227:exon17:c.G2188T:p.V730L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon17:c.G2188T:p.V730L;ENSG00000053747:ENST00000587184:exon16:c.G2020T:p.V674L;ENSG00000053747:ENST00000399516:exon53:c.G6847T:p.V2283L;ENSG00000053747:ENST00000313654:exon54:c.G7015T:p.V2339L;	0.999954083091451	0.982
18	21487900	G	A	18	23907936	y	y	splicing	LAMA3(NM_001127717:exon53:c.6847+1G>A;NM_198129:exon54:c.7015+1G>A;NM_001127718:exon16:c.2020+1G>A;NM_000227:exon17:c.2188+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.7015+1G>A;ENST00000399516:exon53:c.6847+1G>A;ENST00000269217:exon17:c.2188+1G>A;ENST00000587184:exon16:c.2020+1G>A;ENST00000586751:exon14:c.1793+1G>A)	.	.	0.999974634749143	0.908
18	21487900	G	C	18	23907936	y	y	splicing	LAMA3(NM_001127717:exon53:c.6847+1G>C;NM_198129:exon54:c.7015+1G>C;NM_001127718:exon16:c.2020+1G>C;NM_000227:exon17:c.2188+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.7015+1G>C;ENST00000399516:exon53:c.6847+1G>C;ENST00000269217:exon17:c.2188+1G>C;ENST00000587184:exon16:c.2020+1G>C;ENST00000586751:exon14:c.1793+1G>C)	.	.	0.999950299350497	0.902
18	21487900	G	T	18	23907936	y	y	splicing	LAMA3(NM_001127717:exon53:c.6847+1G>T;NM_198129:exon54:c.7015+1G>T;NM_001127718:exon16:c.2020+1G>T;NM_000227:exon17:c.2188+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.7015+1G>T;ENST00000399516:exon53:c.6847+1G>T;ENST00000269217:exon17:c.2188+1G>T;ENST00000587184:exon16:c.2020+1G>T;ENST00000586751:exon14:c.1793+1G>T)	.	.	0.999974634749143	0.908
18	21487901	T	A	18	23907937	y	y	splicing	LAMA3(NM_001127717:exon53:c.6847+2T>A;NM_198129:exon54:c.7015+2T>A;NM_001127718:exon16:c.2020+2T>A;NM_000227:exon17:c.2188+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.7015+2T>A;ENST00000399516:exon53:c.6847+2T>A;ENST00000269217:exon17:c.2188+2T>A;ENST00000587184:exon16:c.2020+2T>A;ENST00000586751:exon14:c.1793+2T>A)	.	.	0.999954785339841	0.9
18	21487901	T	C	18	23907937	y	y	splicing	LAMA3(NM_001127717:exon53:c.6847+2T>C;NM_198129:exon54:c.7015+2T>C;NM_001127718:exon16:c.2020+2T>C;NM_000227:exon17:c.2188+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.7015+2T>C;ENST00000399516:exon53:c.6847+2T>C;ENST00000269217:exon17:c.2188+2T>C;ENST00000587184:exon16:c.2020+2T>C;ENST00000586751:exon14:c.1793+2T>C)	.	.	0.998964886397352	0.828
18	21487901	T	G	18	23907937	y	y	splicing	LAMA3(NM_001127717:exon53:c.6847+2T>G;NM_198129:exon54:c.7015+2T>G;NM_001127718:exon16:c.2020+2T>G;NM_000227:exon17:c.2188+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon54:c.7015+2T>G;ENST00000399516:exon53:c.6847+2T>G;ENST00000269217:exon17:c.2188+2T>G;ENST00000587184:exon16:c.2020+2T>G;ENST00000586751:exon14:c.1793+2T>G)	.	.	0.999954785339841	0.91
18	21487902	A	C	18	23907938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999720569478158	0.904
18	21487902	A	G	18	23907938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997485430859299	0.776
18	21487902	A	T	18	23907938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999785687685834	0.902
18	21487903	T	A	18	23907939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.58262780687698E-5	0.024
18	21487903	T	C	18	23907939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.46424651824126E-5	0.02
18	21487903	T	G	18	23907939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.72412903195117E-4	0.046
18	21487904	C	A	18	23907940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.31070301379312E-5	0.004
18	21487904	C	G	18	23907940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.1528864574583E-5	0.004
18	21487904	C	T	18	23907940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.28923748835959E-4	0.02
18	21487905	A	C	18	23907941	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.35389573851991E-4	0.084
18	21487905	A	G	18	23907941	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.16296834590806E-5	0.024
18	21487905	A	T	18	23907941	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.59099809633846E-5	0.026
18	21487906	G	A	18	23907942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.02072352994019E-4	0.028
18	21487906	G	C	18	23907942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.21229803965686E-4	0.012
18	21487906	G	T	18	23907942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.69412729318839E-5	0.004
18	21487907	G	A	18	23907943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.25713407592056E-4	0.03
18	21487907	G	C	18	23907943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.8711833394644E-5	0.014
18	21487907	G	T	18	23907943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.15984180755554E-4	0.026
18	21489105	T	A	18	23909141	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0168750067015567	0.302
18	21489105	T	C	18	23909141	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.93844681888538E-4	0.068
18	21489105	T	G	18	23909141	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0117811775602335	0.276
18	21489106	C	A	18	23909142	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.83094689471236E-4	0.098
18	21489106	C	G	18	23909142	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.08127572994417E-4	0.076
18	21489106	C	T	18	23909142	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.42982077390183E-5	0.006
18	21489107	T	A	18	23909143	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0262531508910788	0.258
18	21489107	T	C	18	23909143	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.78610120919988E-4	0.072
18	21489107	T	G	18	23909143	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0211913962783085	0.208
18	21489108	C	A	18	23909144	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.76551389294025E-4	0.03
18	21489108	C	G	18	23909144	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.04179880884068E-4	0.04
18	21489108	C	T	18	23909144	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4988360059907E-5	0.0
18	21489109	A	C	18	23909145	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.52886717062052E-5	0.022
18	21489109	A	G	18	23909145	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.02472177811532E-6	0.006
18	21489109	A	T	18	23909145	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.62578931268723E-5	0.012
18	21489110	C	A	18	23909146	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00773970178071011	0.178
18	21489110	C	G	18	23909146	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999803215666599	0.956
18	21489110	C	T	18	23909146	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.58477655448244E-5	0.012
18	21489111	C	A	18	23909147	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.291827687863307	0.504
18	21489111	C	G	18	23909147	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.212708038213493	0.486
18	21489111	C	T	18	23909147	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.73961511399478E-4	0.038
18	21489112	A	C	18	23909148	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.77999481301887E-5	0.006
18	21489112	A	G	18	23909148	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.58173600293057E-4	0.076
18	21489112	A	T	18	23909148	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.60699315319317E-5	0.02
18	21489113	A	C	18	23909149	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20465359592826E-4	0.0
18	21489113	A	G	18	23909149	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9796225763136	0.672
18	21489113	A	T	18	23909149	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.24089424649739E-4	0.03
18	21489114	C	A	18	23909150	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.976486156073223	0.846
18	21489114	C	G	18	23909150	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999831940158484	0.85
18	21489114	C	T	18	23909150	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0146070766370144	0.172
18	21489115	A	C	18	23909151	y	y	splicing	LAMA3(NM_001127717:exon54:c.6848-2A>C;NM_198129:exon55:c.7016-2A>C;NM_001127718:exon17:c.2021-2A>C;NM_000227:exon18:c.2189-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7016-2A>C;ENST00000399516:exon54:c.6848-2A>C;ENST00000269217:exon18:c.2189-2A>C;ENST00000587184:exon17:c.2021-2A>C;ENST00000586751:exon15:c.1794-2A>C)	.	.	0.999988624979899	0.944
18	21489115	A	G	18	23909151	y	y	splicing	LAMA3(NM_001127717:exon54:c.6848-2A>G;NM_198129:exon55:c.7016-2A>G;NM_001127718:exon17:c.2021-2A>G;NM_000227:exon18:c.2189-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7016-2A>G;ENST00000399516:exon54:c.6848-2A>G;ENST00000269217:exon18:c.2189-2A>G;ENST00000587184:exon17:c.2021-2A>G;ENST00000586751:exon15:c.1794-2A>G)	.	.	0.999988624979899	0.944
18	21489115	A	T	18	23909151	y	y	splicing	LAMA3(NM_001127717:exon54:c.6848-2A>T;NM_198129:exon55:c.7016-2A>T;NM_001127718:exon17:c.2021-2A>T;NM_000227:exon18:c.2189-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7016-2A>T;ENST00000399516:exon54:c.6848-2A>T;ENST00000269217:exon18:c.2189-2A>T;ENST00000587184:exon17:c.2021-2A>T;ENST00000586751:exon15:c.1794-2A>T)	.	.	0.999988624979899	0.944
18	21489116	G	A	18	23909152	y	y	splicing	LAMA3(NM_001127717:exon54:c.6848-1G>A;NM_198129:exon55:c.7016-1G>A;NM_001127718:exon17:c.2021-1G>A;NM_000227:exon18:c.2189-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7016-1G>A;ENST00000399516:exon54:c.6848-1G>A;ENST00000269217:exon18:c.2189-1G>A;ENST00000587184:exon17:c.2021-1G>A;ENST00000586751:exon15:c.1794-1G>A)	.	.	0.999979422316293	0.95
18	21489116	G	C	18	23909152	y	y	splicing	LAMA3(NM_001127717:exon54:c.6848-1G>C;NM_198129:exon55:c.7016-1G>C;NM_001127718:exon17:c.2021-1G>C;NM_000227:exon18:c.2189-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7016-1G>C;ENST00000399516:exon54:c.6848-1G>C;ENST00000269217:exon18:c.2189-1G>C;ENST00000587184:exon17:c.2021-1G>C;ENST00000586751:exon15:c.1794-1G>C)	.	.	0.999979422316293	0.95
18	21489116	G	T	18	23909152	y	y	splicing	LAMA3(NM_001127717:exon54:c.6848-1G>T;NM_198129:exon55:c.7016-1G>T;NM_001127718:exon17:c.2021-1G>T;NM_000227:exon18:c.2189-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7016-1G>T;ENST00000399516:exon54:c.6848-1G>T;ENST00000269217:exon18:c.2189-1G>T;ENST00000587184:exon17:c.2021-1G>T;ENST00000586751:exon15:c.1794-1G>T)	.	.	0.999979422316293	0.95
18	21489117	T	A	18	23909153	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.T7016A:p.V2339E;LAMA3:NM_001127718:exon17:c.T2021A:p.V674E;LAMA3:NM_001127717:exon54:c.T6848A:p.V2283E;LAMA3:NM_000227:exon18:c.T2189A:p.V730E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.T2189A:p.V730E;ENSG00000053747:ENST00000587184:exon17:c.T2021A:p.V674E;ENSG00000053747:ENST00000399516:exon54:c.T6848A:p.V2283E;ENSG00000053747:ENST00000313654:exon55:c.T7016A:p.V2339E;	0.502918954853387	0.512
18	21489117	T	C	18	23909153	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.T7016C:p.V2339A;LAMA3:NM_001127718:exon17:c.T2021C:p.V674A;LAMA3:NM_001127717:exon54:c.T6848C:p.V2283A;LAMA3:NM_000227:exon18:c.T2189C:p.V730A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.T2189C:p.V730A;ENSG00000053747:ENST00000587184:exon17:c.T2021C:p.V674A;ENSG00000053747:ENST00000399516:exon54:c.T6848C:p.V2283A;ENSG00000053747:ENST00000313654:exon55:c.T7016C:p.V2339A;	0.351745147237523	0.572
18	21489117	T	G	18	23909153	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.T7016G:p.V2339G;LAMA3:NM_001127718:exon17:c.T2021G:p.V674G;LAMA3:NM_001127717:exon54:c.T6848G:p.V2283G;LAMA3:NM_000227:exon18:c.T2189G:p.V730G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.T2189G:p.V730G;ENSG00000053747:ENST00000587184:exon17:c.T2021G:p.V674G;ENSG00000053747:ENST00000399516:exon54:c.T6848G:p.V2283G;ENSG00000053747:ENST00000313654:exon55:c.T7016G:p.V2339G;	0.253112030692855	0.39
18	21489118	G	A	18	23909154	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon55:c.G7017A:p.V2339V;LAMA3:NM_001127718:exon17:c.G2022A:p.V674V;LAMA3:NM_001127717:exon54:c.G6849A:p.V2283V;LAMA3:NM_000227:exon18:c.G2190A:p.V730V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.G2190A:p.V730V;ENSG00000053747:ENST00000587184:exon17:c.G2022A:p.V674V;ENSG00000053747:ENST00000399516:exon54:c.G6849A:p.V2283V;ENSG00000053747:ENST00000313654:exon55:c.G7017A:p.V2339V;	7.18554352340494E-4	0.158
18	21489118	G	C	18	23909154	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon55:c.G7017C:p.V2339V;LAMA3:NM_001127718:exon17:c.G2022C:p.V674V;LAMA3:NM_001127717:exon54:c.G6849C:p.V2283V;LAMA3:NM_000227:exon18:c.G2190C:p.V730V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.G2190C:p.V730V;ENSG00000053747:ENST00000587184:exon17:c.G2022C:p.V674V;ENSG00000053747:ENST00000399516:exon54:c.G6849C:p.V2283V;ENSG00000053747:ENST00000313654:exon55:c.G7017C:p.V2339V;	2.55896762364023E-5	0.0
18	21489118	G	T	18	23909154	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon55:c.G7017T:p.V2339V;LAMA3:NM_001127718:exon17:c.G2022T:p.V674V;LAMA3:NM_001127717:exon54:c.G6849T:p.V2283V;LAMA3:NM_000227:exon18:c.G2190T:p.V730V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.G2190T:p.V730V;ENSG00000053747:ENST00000587184:exon17:c.G2022T:p.V674V;ENSG00000053747:ENST00000399516:exon54:c.G6849T:p.V2283V;ENSG00000053747:ENST00000313654:exon55:c.G7017T:p.V2339V;	6.38587299968541E-5	0.006
18	21489257	A	C	18	23909293	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.A7156C:p.K2386Q;LAMA3:NM_001127718:exon17:c.A2161C:p.K721Q;LAMA3:NM_001127717:exon54:c.A6988C:p.K2330Q;LAMA3:NM_000227:exon18:c.A2329C:p.K777Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.A2329C:p.K777Q;ENSG00000053747:ENST00000587184:exon17:c.A2161C:p.K721Q;ENSG00000053747:ENST00000399516:exon54:c.A6988C:p.K2330Q;ENSG00000053747:ENST00000313654:exon55:c.A7156C:p.K2386Q;	0.652649179266243	0.53
18	21489257	A	G	18	23909293	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.A7156G:p.K2386E;LAMA3:NM_001127718:exon17:c.A2161G:p.K721E;LAMA3:NM_001127717:exon54:c.A6988G:p.K2330E;LAMA3:NM_000227:exon18:c.A2329G:p.K777E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.A2329G:p.K777E;ENSG00000053747:ENST00000587184:exon17:c.A2161G:p.K721E;ENSG00000053747:ENST00000399516:exon54:c.A6988G:p.K2330E;ENSG00000053747:ENST00000313654:exon55:c.A7156G:p.K2386E;	0.271677721911338	0.41
18	21489257	A	T	18	23909293	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon55:c.A7156T:p.K2386X;LAMA3:NM_001127718:exon17:c.A2161T:p.K721X;LAMA3:NM_001127717:exon54:c.A6988T:p.K2330X;LAMA3:NM_000227:exon18:c.A2329T:p.K777X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon18:c.A2329T:p.K777X;ENSG00000053747:ENST00000587184:exon17:c.A2161T:p.K721X;ENSG00000053747:ENST00000399516:exon54:c.A6988T:p.K2330X;ENSG00000053747:ENST00000313654:exon55:c.A7156T:p.K2386X;	0.94409036939744	0.638
18	21489258	A	C	18	23909294	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.A7157C:p.K2386T;LAMA3:NM_001127718:exon17:c.A2162C:p.K721T;LAMA3:NM_001127717:exon54:c.A6989C:p.K2330T;LAMA3:NM_000227:exon18:c.A2330C:p.K777T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.A2330C:p.K777T;ENSG00000053747:ENST00000587184:exon17:c.A2162C:p.K721T;ENSG00000053747:ENST00000399516:exon54:c.A6989C:p.K2330T;ENSG00000053747:ENST00000313654:exon55:c.A7157C:p.K2386T;	0.990355497831039	0.854
18	21489258	A	G	18	23909294	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.A7157G:p.K2386R;LAMA3:NM_001127718:exon17:c.A2162G:p.K721R;LAMA3:NM_001127717:exon54:c.A6989G:p.K2330R;LAMA3:NM_000227:exon18:c.A2330G:p.K777R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.A2330G:p.K777R;ENSG00000053747:ENST00000587184:exon17:c.A2162G:p.K721R;ENSG00000053747:ENST00000399516:exon54:c.A6989G:p.K2330R;ENSG00000053747:ENST00000313654:exon55:c.A7157G:p.K2386R;	0.99378446704329	0.946
18	21489258	A	T	18	23909294	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.A7157T:p.K2386M;LAMA3:NM_001127718:exon17:c.A2162T:p.K721M;LAMA3:NM_001127717:exon54:c.A6989T:p.K2330M;LAMA3:NM_000227:exon18:c.A2330T:p.K777M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.A2330T:p.K777M;ENSG00000053747:ENST00000587184:exon17:c.A2162T:p.K721M;ENSG00000053747:ENST00000399516:exon54:c.A6989T:p.K2330M;ENSG00000053747:ENST00000313654:exon55:c.A7157T:p.K2386M;	0.986154413002793	0.606
18	21489259	G	A	18	23909295	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon55:c.G7158A:p.K2386K;LAMA3:NM_001127718:exon17:c.G2163A:p.K721K;LAMA3:NM_001127717:exon54:c.G6990A:p.K2330K;LAMA3:NM_000227:exon18:c.G2331A:p.K777K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.G2331A:p.K777K;ENSG00000053747:ENST00000587184:exon17:c.G2163A:p.K721K;ENSG00000053747:ENST00000399516:exon54:c.G6990A:p.K2330K;ENSG00000053747:ENST00000313654:exon55:c.G7158A:p.K2386K;	0.886169664103491	0.352
18	21489259	G	C	18	23909295	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.G7158C:p.K2386N;LAMA3:NM_001127718:exon17:c.G2163C:p.K721N;LAMA3:NM_001127717:exon54:c.G6990C:p.K2330N;LAMA3:NM_000227:exon18:c.G2331C:p.K777N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.G2331C:p.K777N;ENSG00000053747:ENST00000587184:exon17:c.G2163C:p.K721N;ENSG00000053747:ENST00000399516:exon54:c.G6990C:p.K2330N;ENSG00000053747:ENST00000313654:exon55:c.G7158C:p.K2386N;	0.999709636027304	0.896
18	21489259	G	T	18	23909295	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon55:c.G7158T:p.K2386N;LAMA3:NM_001127718:exon17:c.G2163T:p.K721N;LAMA3:NM_001127717:exon54:c.G6990T:p.K2330N;LAMA3:NM_000227:exon18:c.G2331T:p.K777N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon18:c.G2331T:p.K777N;ENSG00000053747:ENST00000587184:exon17:c.G2163T:p.K721N;ENSG00000053747:ENST00000399516:exon54:c.G6990T:p.K2330N;ENSG00000053747:ENST00000313654:exon55:c.G7158T:p.K2386N;	0.9989968703395	0.906
18	21489260	G	A	18	23909296	y	y	splicing	LAMA3(NM_001127717:exon54:c.6990+1G>A;NM_198129:exon55:c.7158+1G>A;NM_001127718:exon17:c.2163+1G>A;NM_000227:exon18:c.2331+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7158+1G>A;ENST00000399516:exon54:c.6990+1G>A;ENST00000269217:exon18:c.2331+1G>A;ENST00000587184:exon17:c.2163+1G>A;ENST00000586751:exon15:c.1936+1G>A)	.	.	0.999985532734767	0.936
18	21489260	G	C	18	23909296	y	y	splicing	LAMA3(NM_001127717:exon54:c.6990+1G>C;NM_198129:exon55:c.7158+1G>C;NM_001127718:exon17:c.2163+1G>C;NM_000227:exon18:c.2331+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7158+1G>C;ENST00000399516:exon54:c.6990+1G>C;ENST00000269217:exon18:c.2331+1G>C;ENST00000587184:exon17:c.2163+1G>C;ENST00000586751:exon15:c.1936+1G>C)	.	.	0.999985532734767	0.936
18	21489260	G	T	18	23909296	y	y	splicing	LAMA3(NM_001127717:exon54:c.6990+1G>T;NM_198129:exon55:c.7158+1G>T;NM_001127718:exon17:c.2163+1G>T;NM_000227:exon18:c.2331+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7158+1G>T;ENST00000399516:exon54:c.6990+1G>T;ENST00000269217:exon18:c.2331+1G>T;ENST00000587184:exon17:c.2163+1G>T;ENST00000586751:exon15:c.1936+1G>T)	.	.	0.999985532734767	0.936
18	21489261	T	A	18	23909297	y	y	splicing	LAMA3(NM_001127717:exon54:c.6990+2T>A;NM_198129:exon55:c.7158+2T>A;NM_001127718:exon17:c.2163+2T>A;NM_000227:exon18:c.2331+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7158+2T>A;ENST00000399516:exon54:c.6990+2T>A;ENST00000269217:exon18:c.2331+2T>A;ENST00000587184:exon17:c.2163+2T>A;ENST00000586751:exon15:c.1936+2T>A)	.	.	0.999988247793601	0.928
18	21489261	T	C	18	23909297	y	y	splicing	LAMA3(NM_001127717:exon54:c.6990+2T>C;NM_198129:exon55:c.7158+2T>C;NM_001127718:exon17:c.2163+2T>C;NM_000227:exon18:c.2331+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7158+2T>C;ENST00000399516:exon54:c.6990+2T>C;ENST00000269217:exon18:c.2331+2T>C;ENST00000587184:exon17:c.2163+2T>C;ENST00000586751:exon15:c.1936+2T>C)	.	.	0.999929727175276	0.856
18	21489261	T	G	18	23909297	y	y	splicing	LAMA3(NM_001127717:exon54:c.6990+2T>G;NM_198129:exon55:c.7158+2T>G;NM_001127718:exon17:c.2163+2T>G;NM_000227:exon18:c.2331+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon55:c.7158+2T>G;ENST00000399516:exon54:c.6990+2T>G;ENST00000269217:exon18:c.2331+2T>G;ENST00000587184:exon17:c.2163+2T>G;ENST00000586751:exon15:c.1936+2T>G)	.	.	0.999988247793601	0.928
18	21489262	G	A	18	23909298	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.65189357397103E-4	0.002
18	21489262	G	C	18	23909298	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0387005196550659	0.362
18	21489262	G	T	18	23909298	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0148860353144403	0.31
18	21489263	A	C	18	23909299	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.037710621266787	0.24
18	21489263	A	G	18	23909299	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0938468417666393	0.252
18	21489263	A	T	18	23909299	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.223933164268679	0.26
18	21489264	G	A	18	23909300	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.979681356575388	0.85
18	21489264	G	C	18	23909300	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994758527543149	0.894
18	21489264	G	T	18	23909300	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.988936716228041	0.9
18	21489265	T	A	18	23909301	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0328302183588963	0.16
18	21489265	T	C	18	23909301	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00367018033465431	0.126
18	21489265	T	G	18	23909301	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00189089447859354	0.12
18	21489266	G	A	18	23909302	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.27477746119029E-5	0.0
18	21489266	G	C	18	23909302	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.69930370103191E-5	0.0
18	21489266	G	T	18	23909302	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.31689052743192E-5	0.0
18	21489267	T	A	18	23909303	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.73401366462724E-4	0.002
18	21489267	T	C	18	23909303	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.23244617478918E-4	0.0
18	21489267	T	G	18	23909303	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.23244617478918E-4	0.0
18	21492663	T	A	18	23912699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.47318379120945E-4	0.142
18	21492663	T	C	18	23912699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.28324486592775E-4	0.008
18	21492663	T	G	18	23912699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.92835357450022E-4	0.126
18	21492664	A	C	18	23912700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.60250117994756E-5	0.014
18	21492664	A	G	18	23912700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.39838764502043E-5	0.01
18	21492664	A	T	18	23912700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.09505763665981E-5	0.078
18	21492665	C	A	18	23912701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.61193258883709E-4	0.072
18	21492665	C	G	18	23912701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.978767461524763	0.92
18	21492665	C	T	18	23912701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.42648515104035E-5	0.002
18	21492666	T	A	18	23912702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00197826946041556	0.154
18	21492666	T	C	18	23912702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.00622657024908E-4	0.008
18	21492666	T	G	18	23912702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0014406362521241	0.144
18	21492667	C	A	18	23912703	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00110494687070655	0.086
18	21492667	C	G	18	23912703	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.20371601394644E-4	0.07
18	21492667	C	T	18	23912703	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.18501760120918E-5	0.0
18	21492668	C	A	18	23912704	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00134404039334479	0.144
18	21492668	C	G	18	23912704	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.54749352435562E-4	0.102
18	21492668	C	T	18	23912704	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.62305557549987E-5	0.012
18	21492669	T	A	18	23912705	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00128635871526473	0.078
18	21492669	T	C	18	23912705	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.26707907559391E-4	0.08
18	21492669	T	G	18	23912705	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00340661266462239	0.166
18	21492670	C	A	18	23912706	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0276988354924025	0.164
18	21492670	C	G	18	23912706	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0163026002960464	0.192
18	21492670	C	T	18	23912706	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00314734902494705	0.018
18	21492671	A	C	18	23912707	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.74438454736664E-5	0.046
18	21492671	A	G	18	23912707	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.46552627156223E-5	0.004
18	21492671	A	T	18	23912707	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.43990303000446E-4	0.014
18	21492672	C	A	18	23912708	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.858916826813316	0.54
18	21492672	C	G	18	23912708	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999764087617359	0.956
18	21492672	C	T	18	23912708	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00693222196764434	0.138
18	21492673	A	C	18	23912709	y	y	splicing	LAMA3(NM_001127717:exon55:c.6991-2A>C;NM_198129:exon56:c.7159-2A>C;NM_001127718:exon18:c.2164-2A>C;NM_000227:exon19:c.2332-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7159-2A>C;ENST00000399516:exon55:c.6991-2A>C;ENST00000269217:exon19:c.2332-2A>C;ENST00000587184:exon18:c.2164-2A>C;ENST00000586751:exon16:c.1937-2A>C)	.	.	0.999988247793601	0.928
18	21492673	A	G	18	23912709	y	y	splicing	LAMA3(NM_001127717:exon55:c.6991-2A>G;NM_198129:exon56:c.7159-2A>G;NM_001127718:exon18:c.2164-2A>G;NM_000227:exon19:c.2332-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7159-2A>G;ENST00000399516:exon55:c.6991-2A>G;ENST00000269217:exon19:c.2332-2A>G;ENST00000587184:exon18:c.2164-2A>G;ENST00000586751:exon16:c.1937-2A>G)	.	.	0.999988247793601	0.928
18	21492673	A	T	18	23912709	y	y	splicing	LAMA3(NM_001127717:exon55:c.6991-2A>T;NM_198129:exon56:c.7159-2A>T;NM_001127718:exon18:c.2164-2A>T;NM_000227:exon19:c.2332-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7159-2A>T;ENST00000399516:exon55:c.6991-2A>T;ENST00000269217:exon19:c.2332-2A>T;ENST00000587184:exon18:c.2164-2A>T;ENST00000586751:exon16:c.1937-2A>T)	.	.	0.999988247793601	0.928
18	21492674	G	A	18	23912710	y	y	splicing	LAMA3(NM_001127717:exon55:c.6991-1G>A;NM_198129:exon56:c.7159-1G>A;NM_001127718:exon18:c.2164-1G>A;NM_000227:exon19:c.2332-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7159-1G>A;ENST00000399516:exon55:c.6991-1G>A;ENST00000269217:exon19:c.2332-1G>A;ENST00000587184:exon18:c.2164-1G>A;ENST00000586751:exon16:c.1937-1G>A)	.	.	0.999985532734767	0.936
18	21492674	G	C	18	23912710	y	y	splicing	LAMA3(NM_001127717:exon55:c.6991-1G>C;NM_198129:exon56:c.7159-1G>C;NM_001127718:exon18:c.2164-1G>C;NM_000227:exon19:c.2332-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7159-1G>C;ENST00000399516:exon55:c.6991-1G>C;ENST00000269217:exon19:c.2332-1G>C;ENST00000587184:exon18:c.2164-1G>C;ENST00000586751:exon16:c.1937-1G>C)	.	.	0.999985532734767	0.936
18	21492674	G	T	18	23912710	y	y	splicing	LAMA3(NM_001127717:exon55:c.6991-1G>T;NM_198129:exon56:c.7159-1G>T;NM_001127718:exon18:c.2164-1G>T;NM_000227:exon19:c.2332-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7159-1G>T;ENST00000399516:exon55:c.6991-1G>T;ENST00000269217:exon19:c.2332-1G>T;ENST00000587184:exon18:c.2164-1G>T;ENST00000586751:exon16:c.1937-1G>T)	.	.	0.999985532734767	0.936
18	21492675	G	A	18	23912711	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.G7159A:p.V2387I;LAMA3:NM_001127718:exon18:c.G2164A:p.V722I;LAMA3:NM_001127717:exon55:c.G6991A:p.V2331I;LAMA3:NM_000227:exon19:c.G2332A:p.V778I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.G2332A:p.V778I;ENSG00000053747:ENST00000587184:exon18:c.G2164A:p.V722I;ENSG00000053747:ENST00000399516:exon55:c.G6991A:p.V2331I;ENSG00000053747:ENST00000313654:exon56:c.G7159A:p.V2387I;	0.994213976367026	0.736
18	21492675	G	C	18	23912711	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.G7159C:p.V2387L;LAMA3:NM_001127718:exon18:c.G2164C:p.V722L;LAMA3:NM_001127717:exon55:c.G6991C:p.V2331L;LAMA3:NM_000227:exon19:c.G2332C:p.V778L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.G2332C:p.V778L;ENSG00000053747:ENST00000587184:exon18:c.G2164C:p.V722L;ENSG00000053747:ENST00000399516:exon55:c.G6991C:p.V2331L;ENSG00000053747:ENST00000313654:exon56:c.G7159C:p.V2387L;	0.998659552725933	0.912
18	21492675	G	T	18	23912711	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.G7159T:p.V2387F;LAMA3:NM_001127718:exon18:c.G2164T:p.V722F;LAMA3:NM_001127717:exon55:c.G6991T:p.V2331F;LAMA3:NM_000227:exon19:c.G2332T:p.V778F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.G2332T:p.V778F;ENSG00000053747:ENST00000587184:exon18:c.G2164T:p.V722F;ENSG00000053747:ENST00000399516:exon55:c.G6991T:p.V2331F;ENSG00000053747:ENST00000313654:exon56:c.G7159T:p.V2387F;	0.99879577842525	0.85
18	21492676	T	A	18	23912712	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.T7160A:p.V2387D;LAMA3:NM_001127718:exon18:c.T2165A:p.V722D;LAMA3:NM_001127717:exon55:c.T6992A:p.V2331D;LAMA3:NM_000227:exon19:c.T2333A:p.V778D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.T2333A:p.V778D;ENSG00000053747:ENST00000587184:exon18:c.T2165A:p.V722D;ENSG00000053747:ENST00000399516:exon55:c.T6992A:p.V2331D;ENSG00000053747:ENST00000313654:exon56:c.T7160A:p.V2387D;	0.1950169684536	0.57
18	21492676	T	C	18	23912712	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.T7160C:p.V2387A;LAMA3:NM_001127718:exon18:c.T2165C:p.V722A;LAMA3:NM_001127717:exon55:c.T6992C:p.V2331A;LAMA3:NM_000227:exon19:c.T2333C:p.V778A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.T2333C:p.V778A;ENSG00000053747:ENST00000587184:exon18:c.T2165C:p.V722A;ENSG00000053747:ENST00000399516:exon55:c.T6992C:p.V2331A;ENSG00000053747:ENST00000313654:exon56:c.T7160C:p.V2387A;	0.228825870110403	0.566
18	21492676	T	G	18	23912712	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.T7160G:p.V2387G;LAMA3:NM_001127718:exon18:c.T2165G:p.V722G;LAMA3:NM_001127717:exon55:c.T6992G:p.V2331G;LAMA3:NM_000227:exon19:c.T2333G:p.V778G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.T2333G:p.V778G;ENSG00000053747:ENST00000587184:exon18:c.T2165G:p.V722G;ENSG00000053747:ENST00000399516:exon55:c.T6992G:p.V2331G;ENSG00000053747:ENST00000313654:exon56:c.T7160G:p.V2387G;	0.238046491387923	0.6
18	21492843	G	A	18	23912879	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.G7327A:p.D2443N;LAMA3:NM_001127718:exon18:c.G2332A:p.D778N;LAMA3:NM_001127717:exon55:c.G7159A:p.D2387N;LAMA3:NM_000227:exon19:c.G2500A:p.D834N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.G2500A:p.D834N;ENSG00000053747:ENST00000587184:exon18:c.G2332A:p.D778N;ENSG00000053747:ENST00000399516:exon55:c.G7159A:p.D2387N;ENSG00000053747:ENST00000313654:exon56:c.G7327A:p.D2443N;	0.897787460143775	0.744
18	21492843	G	C	18	23912879	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.G7327C:p.D2443H;LAMA3:NM_001127718:exon18:c.G2332C:p.D778H;LAMA3:NM_001127717:exon55:c.G7159C:p.D2387H;LAMA3:NM_000227:exon19:c.G2500C:p.D834H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.G2500C:p.D834H;ENSG00000053747:ENST00000587184:exon18:c.G2332C:p.D778H;ENSG00000053747:ENST00000399516:exon55:c.G7159C:p.D2387H;ENSG00000053747:ENST00000313654:exon56:c.G7327C:p.D2443H;	0.946031402234726	0.714
18	21492843	G	T	18	23912879	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.G7327T:p.D2443Y;LAMA3:NM_001127718:exon18:c.G2332T:p.D778Y;LAMA3:NM_001127717:exon55:c.G7159T:p.D2387Y;LAMA3:NM_000227:exon19:c.G2500T:p.D834Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.G2500T:p.D834Y;ENSG00000053747:ENST00000587184:exon18:c.G2332T:p.D778Y;ENSG00000053747:ENST00000399516:exon55:c.G7159T:p.D2387Y;ENSG00000053747:ENST00000313654:exon56:c.G7327T:p.D2443Y;	0.962247102070593	0.726
18	21492844	A	C	18	23912880	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.A7328C:p.D2443A;LAMA3:NM_001127718:exon18:c.A2333C:p.D778A;LAMA3:NM_001127717:exon55:c.A7160C:p.D2387A;LAMA3:NM_000227:exon19:c.A2501C:p.D834A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.A2501C:p.D834A;ENSG00000053747:ENST00000587184:exon18:c.A2333C:p.D778A;ENSG00000053747:ENST00000399516:exon55:c.A7160C:p.D2387A;ENSG00000053747:ENST00000313654:exon56:c.A7328C:p.D2443A;	0.992168379172211	0.914
18	21492844	A	G	18	23912880	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.A7328G:p.D2443G;LAMA3:NM_001127718:exon18:c.A2333G:p.D778G;LAMA3:NM_001127717:exon55:c.A7160G:p.D2387G;LAMA3:NM_000227:exon19:c.A2501G:p.D834G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.A2501G:p.D834G;ENSG00000053747:ENST00000587184:exon18:c.A2333G:p.D778G;ENSG00000053747:ENST00000399516:exon55:c.A7160G:p.D2387G;ENSG00000053747:ENST00000313654:exon56:c.A7328G:p.D2443G;	0.991999334019182	0.854
18	21492844	A	T	18	23912880	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.A7328T:p.D2443V;LAMA3:NM_001127718:exon18:c.A2333T:p.D778V;LAMA3:NM_001127717:exon55:c.A7160T:p.D2387V;LAMA3:NM_000227:exon19:c.A2501T:p.D834V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.A2501T:p.D834V;ENSG00000053747:ENST00000587184:exon18:c.A2333T:p.D778V;ENSG00000053747:ENST00000399516:exon55:c.A7160T:p.D2387V;ENSG00000053747:ENST00000313654:exon56:c.A7328T:p.D2443V;	0.992813723898138	0.846
18	21492845	T	A	18	23912881	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.T7329A:p.D2443E;LAMA3:NM_001127718:exon18:c.T2334A:p.D778E;LAMA3:NM_001127717:exon55:c.T7161A:p.D2387E;LAMA3:NM_000227:exon19:c.T2502A:p.D834E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.T2502A:p.D834E;ENSG00000053747:ENST00000587184:exon18:c.T2334A:p.D778E;ENSG00000053747:ENST00000399516:exon55:c.T7161A:p.D2387E;ENSG00000053747:ENST00000313654:exon56:c.T7329A:p.D2443E;	0.00174600445853101	0.252
18	21492845	T	C	18	23912881	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon56:c.T7329C:p.D2443D;LAMA3:NM_001127718:exon18:c.T2334C:p.D778D;LAMA3:NM_001127717:exon55:c.T7161C:p.D2387D;LAMA3:NM_000227:exon19:c.T2502C:p.D834D;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.T2502C:p.D834D;ENSG00000053747:ENST00000587184:exon18:c.T2334C:p.D778D;ENSG00000053747:ENST00000399516:exon55:c.T7161C:p.D2387D;ENSG00000053747:ENST00000313654:exon56:c.T7329C:p.D2443D;	0.00142336136105049	0.108
18	21492845	T	G	18	23912881	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon56:c.T7329G:p.D2443E;LAMA3:NM_001127718:exon18:c.T2334G:p.D778E;LAMA3:NM_001127717:exon55:c.T7161G:p.D2387E;LAMA3:NM_000227:exon19:c.T2502G:p.D834E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon19:c.T2502G:p.D834E;ENSG00000053747:ENST00000587184:exon18:c.T2334G:p.D778E;ENSG00000053747:ENST00000399516:exon55:c.T7161G:p.D2387E;ENSG00000053747:ENST00000313654:exon56:c.T7329G:p.D2443E;	0.00198568320963625	0.422
18	21492846	G	A	18	23912882	y	y	splicing	LAMA3(NM_001127717:exon55:c.7161+1G>A;NM_198129:exon56:c.7329+1G>A;NM_001127718:exon18:c.2334+1G>A;NM_000227:exon19:c.2502+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7329+1G>A;ENST00000399516:exon55:c.7161+1G>A;ENST00000269217:exon19:c.2502+1G>A;ENST00000587184:exon18:c.2334+1G>A;ENST00000586751:exon16:c.2107+1G>A)	.	.	0.999985532734767	0.936
18	21492846	G	C	18	23912882	y	y	splicing	LAMA3(NM_001127717:exon55:c.7161+1G>C;NM_198129:exon56:c.7329+1G>C;NM_001127718:exon18:c.2334+1G>C;NM_000227:exon19:c.2502+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7329+1G>C;ENST00000399516:exon55:c.7161+1G>C;ENST00000269217:exon19:c.2502+1G>C;ENST00000587184:exon18:c.2334+1G>C;ENST00000586751:exon16:c.2107+1G>C)	.	.	0.999985532734767	0.936
18	21492846	G	T	18	23912882	y	y	splicing	LAMA3(NM_001127717:exon55:c.7161+1G>T;NM_198129:exon56:c.7329+1G>T;NM_001127718:exon18:c.2334+1G>T;NM_000227:exon19:c.2502+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7329+1G>T;ENST00000399516:exon55:c.7161+1G>T;ENST00000269217:exon19:c.2502+1G>T;ENST00000587184:exon18:c.2334+1G>T;ENST00000586751:exon16:c.2107+1G>T)	.	.	0.999985532734767	0.936
18	21492847	T	A	18	23912883	y	y	splicing	LAMA3(NM_001127717:exon55:c.7161+2T>A;NM_198129:exon56:c.7329+2T>A;NM_001127718:exon18:c.2334+2T>A;NM_000227:exon19:c.2502+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7329+2T>A;ENST00000399516:exon55:c.7161+2T>A;ENST00000269217:exon19:c.2502+2T>A;ENST00000587184:exon18:c.2334+2T>A;ENST00000586751:exon16:c.2107+2T>A)	.	.	0.999988247793601	0.928
18	21492847	T	C	18	23912883	y	y	splicing	LAMA3(NM_001127717:exon55:c.7161+2T>C;NM_198129:exon56:c.7329+2T>C;NM_001127718:exon18:c.2334+2T>C;NM_000227:exon19:c.2502+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7329+2T>C;ENST00000399516:exon55:c.7161+2T>C;ENST00000269217:exon19:c.2502+2T>C;ENST00000587184:exon18:c.2334+2T>C;ENST00000586751:exon16:c.2107+2T>C)	.	.	0.992783534660112	0.678
18	21492847	T	G	18	23912883	y	y	splicing	LAMA3(NM_001127717:exon55:c.7161+2T>G;NM_198129:exon56:c.7329+2T>G;NM_001127718:exon18:c.2334+2T>G;NM_000227:exon19:c.2502+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon56:c.7329+2T>G;ENST00000399516:exon55:c.7161+2T>G;ENST00000269217:exon19:c.2502+2T>G;ENST00000587184:exon18:c.2334+2T>G;ENST00000586751:exon16:c.2107+2T>G)	.	.	0.999988247793601	0.928
18	21492848	A	C	18	23912884	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995761603930991	0.716
18	21492848	A	G	18	23912884	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00343556274999027	0.206
18	21492848	A	T	18	23912884	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998780975422799	0.76
18	21492849	A	C	18	23912885	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.934301225509443	0.542
18	21492849	A	G	18	23912885	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991370698278486	0.78
18	21492849	A	T	18	23912885	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.947018760120972	0.668
18	21492850	G	A	18	23912886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999889419624974	0.92
18	21492850	G	C	18	23912886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99961750351826	0.946
18	21492850	G	T	18	23912886	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999965845723167	0.968
18	21492851	T	A	18	23912887	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.984555532650916	0.808
18	21492851	T	C	18	23912887	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.940960311335325	0.828
18	21492851	T	G	18	23912887	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.913306214527866	0.798
18	21492852	A	C	18	23912888	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.15534999524784E-4	0.004
18	21492852	A	G	18	23912888	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.18178193740577E-4	0.012
18	21492852	A	T	18	23912888	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.64266310809436E-5	0.0
18	21492853	T	A	18	23912889	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.14896612814682E-4	0.0
18	21492853	T	C	18	23912889	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.26215277945668E-4	0.004
18	21492853	T	G	18	23912889	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.0508842555909E-5	0.002
18	21494362	C	A	18	23914398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.10043869096265E-4	0.042
18	21494362	C	G	18	23914398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.80895170035969E-5	0.006
18	21494362	C	T	18	23914398	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.04737572979891E-5	0.0
18	21494363	T	A	18	23914399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00695033526904062	0.252
18	21494363	T	C	18	23914399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6192430801297E-4	0.064
18	21494363	T	G	18	23914399	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00172237674917877	0.19
18	21494364	T	A	18	23914400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00329879095206973	0.112
18	21494364	T	C	18	23914400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.34743282662818E-4	0.05
18	21494364	T	G	18	23914400	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00835390565784304	0.11
18	21494365	T	A	18	23914401	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999919686343042	0.976
18	21494365	T	C	18	23914401	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.50819466151022E-4	0.004
18	21494365	T	G	18	23914401	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0204464646264919	0.154
18	21494366	G	A	18	23914402	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00110142430240114	0.032
18	21494366	G	C	18	23914402	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.34849869162947E-4	0.018
18	21494366	G	T	18	23914402	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.15065125162468E-4	0.01
18	21494367	T	A	18	23914403	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0518802223912347	0.156
18	21494367	T	C	18	23914403	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.22839905542127E-4	0.012
18	21494367	T	G	18	23914403	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0254153925890759	0.158
18	21494368	C	A	18	23914404	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00179209351035247	0.07
18	21494368	C	G	18	23914404	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00215365852865498	0.076
18	21494368	C	T	18	23914404	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.41341115596952E-5	0.0
18	21494369	T	A	18	23914405	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00926057267726845	0.252
18	21494369	T	C	18	23914405	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.39873620419216E-4	0.016
18	21494369	T	G	18	23914405	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0603536406102284	0.336
18	21494370	C	A	18	23914406	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.44636857439892E-5	0.0
18	21494370	C	G	18	23914406	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.53269928854867E-4	0.0
18	21494370	C	T	18	23914406	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.27349972914049E-5	0.0
18	21494371	C	A	18	23914407	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.961496719813577	0.702
18	21494371	C	G	18	23914407	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999821058063229	0.96
18	21494371	C	T	18	23914407	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.08438875062929E-4	0.11
18	21494372	A	C	18	23914408	y	y	splicing	LAMA3(NM_001127717:exon56:c.7162-2A>C;NM_198129:exon57:c.7330-2A>C;NM_001127718:exon19:c.2335-2A>C;NM_000227:exon20:c.2503-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7330-2A>C;ENST00000399516:exon56:c.7162-2A>C;ENST00000269217:exon20:c.2503-2A>C;ENST00000587184:exon19:c.2335-2A>C;ENST00000586751:exon17:c.2108-2A>C)	.	.	0.999966203349492	0.926
18	21494372	A	G	18	23914408	y	y	splicing	LAMA3(NM_001127717:exon56:c.7162-2A>G;NM_198129:exon57:c.7330-2A>G;NM_001127718:exon19:c.2335-2A>G;NM_000227:exon20:c.2503-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7330-2A>G;ENST00000399516:exon56:c.7162-2A>G;ENST00000269217:exon20:c.2503-2A>G;ENST00000587184:exon19:c.2335-2A>G;ENST00000586751:exon17:c.2108-2A>G)	.	.	0.999966203349492	0.926
18	21494372	A	T	18	23914408	y	y	splicing	LAMA3(NM_001127717:exon56:c.7162-2A>T;NM_198129:exon57:c.7330-2A>T;NM_001127718:exon19:c.2335-2A>T;NM_000227:exon20:c.2503-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7330-2A>T;ENST00000399516:exon56:c.7162-2A>T;ENST00000269217:exon20:c.2503-2A>T;ENST00000587184:exon19:c.2335-2A>T;ENST00000586751:exon17:c.2108-2A>T)	.	.	0.999986903042585	0.924
18	21494373	G	A	18	23914409	y	y	splicing	LAMA3(NM_001127717:exon56:c.7162-1G>A;NM_198129:exon57:c.7330-1G>A;NM_001127718:exon19:c.2335-1G>A;NM_000227:exon20:c.2503-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7330-1G>A;ENST00000399516:exon56:c.7162-1G>A;ENST00000269217:exon20:c.2503-1G>A;ENST00000587184:exon19:c.2335-1G>A;ENST00000586751:exon17:c.2108-1G>A)	.	.	0.999976137096505	0.94
18	21494373	G	C	18	23914409	y	y	splicing	LAMA3(NM_001127717:exon56:c.7162-1G>C;NM_198129:exon57:c.7330-1G>C;NM_001127718:exon19:c.2335-1G>C;NM_000227:exon20:c.2503-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7330-1G>C;ENST00000399516:exon56:c.7162-1G>C;ENST00000269217:exon20:c.2503-1G>C;ENST00000587184:exon19:c.2335-1G>C;ENST00000586751:exon17:c.2108-1G>C)	.	.	0.999976137096505	0.94
18	21494373	G	T	18	23914409	y	y	splicing	LAMA3(NM_001127717:exon56:c.7162-1G>T;NM_198129:exon57:c.7330-1G>T;NM_001127718:exon19:c.2335-1G>T;NM_000227:exon20:c.2503-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7330-1G>T;ENST00000399516:exon56:c.7162-1G>T;ENST00000269217:exon20:c.2503-1G>T;ENST00000587184:exon19:c.2335-1G>T;ENST00000586751:exon17:c.2108-1G>T)	.	.	0.999976137096505	0.942
18	21494374	G	A	18	23914410	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.G7330A:p.A2444T;LAMA3:NM_001127718:exon19:c.G2335A:p.A779T;LAMA3:NM_001127717:exon56:c.G7162A:p.A2388T;LAMA3:NM_000227:exon20:c.G2503A:p.A835T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2503A:p.A835T;ENSG00000053747:ENST00000587184:exon19:c.G2335A:p.A779T;ENSG00000053747:ENST00000399516:exon56:c.G7162A:p.A2388T;ENSG00000053747:ENST00000313654:exon57:c.G7330A:p.A2444T;	0.0163048914068634	0.25
18	21494374	G	C	18	23914410	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.G7330C:p.A2444P;LAMA3:NM_001127718:exon19:c.G2335C:p.A779P;LAMA3:NM_001127717:exon56:c.G7162C:p.A2388P;LAMA3:NM_000227:exon20:c.G2503C:p.A835P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2503C:p.A835P;ENSG00000053747:ENST00000587184:exon19:c.G2335C:p.A779P;ENSG00000053747:ENST00000399516:exon56:c.G7162C:p.A2388P;ENSG00000053747:ENST00000313654:exon57:c.G7330C:p.A2444P;	0.624276590000008	0.616
18	21494374	G	T	18	23914410	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.G7330T:p.A2444S;LAMA3:NM_001127718:exon19:c.G2335T:p.A779S;LAMA3:NM_001127717:exon56:c.G7162T:p.A2388S;LAMA3:NM_000227:exon20:c.G2503T:p.A835S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2503T:p.A835S;ENSG00000053747:ENST00000587184:exon19:c.G2335T:p.A779S;ENSG00000053747:ENST00000399516:exon56:c.G7162T:p.A2388S;ENSG00000053747:ENST00000313654:exon57:c.G7330T:p.A2444S;	0.595171042641159	0.632
18	21494375	C	A	18	23914411	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.C7331A:p.A2444D;LAMA3:NM_001127718:exon19:c.C2336A:p.A779D;LAMA3:NM_001127717:exon56:c.C7163A:p.A2388D;LAMA3:NM_000227:exon20:c.C2504A:p.A835D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.C2504A:p.A835D;ENSG00000053747:ENST00000587184:exon19:c.C2336A:p.A779D;ENSG00000053747:ENST00000399516:exon56:c.C7163A:p.A2388D;ENSG00000053747:ENST00000313654:exon57:c.C7331A:p.A2444D;	0.00104587768144606	0.06
18	21494375	C	G	18	23914411	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.C7331G:p.A2444G;LAMA3:NM_001127718:exon19:c.C2336G:p.A779G;LAMA3:NM_001127717:exon56:c.C7163G:p.A2388G;LAMA3:NM_000227:exon20:c.C2504G:p.A835G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.C2504G:p.A835G;ENSG00000053747:ENST00000587184:exon19:c.C2336G:p.A779G;ENSG00000053747:ENST00000399516:exon56:c.C7163G:p.A2388G;ENSG00000053747:ENST00000313654:exon57:c.C7331G:p.A2444G;	0.00313106210753942	0.07
18	21494375	C	T	18	23914411	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.C7331T:p.A2444V;LAMA3:NM_001127718:exon19:c.C2336T:p.A779V;LAMA3:NM_001127717:exon56:c.C7163T:p.A2388V;LAMA3:NM_000227:exon20:c.C2504T:p.A835V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.C2504T:p.A835V;ENSG00000053747:ENST00000587184:exon19:c.C2336T:p.A779V;ENSG00000053747:ENST00000399516:exon56:c.C7163T:p.A2388V;ENSG00000053747:ENST00000313654:exon57:c.C7331T:p.A2444V;	0.012249819730026	0.142
18	21494523	G	A	18	23914559	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon57:c.G7479A:p.Q2493Q;LAMA3:NM_001127718:exon19:c.G2484A:p.Q828Q;LAMA3:NM_001127717:exon56:c.G7311A:p.Q2437Q;LAMA3:NM_000227:exon20:c.G2652A:p.Q884Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2652A:p.Q884Q;ENSG00000053747:ENST00000587184:exon19:c.G2484A:p.Q828Q;ENSG00000053747:ENST00000399516:exon56:c.G7311A:p.Q2437Q;ENSG00000053747:ENST00000313654:exon57:c.G7479A:p.Q2493Q;	2.03610738223393E-4	0.012
18	21494523	G	C	18	23914559	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.G7479C:p.Q2493H;LAMA3:NM_001127718:exon19:c.G2484C:p.Q828H;LAMA3:NM_001127717:exon56:c.G7311C:p.Q2437H;LAMA3:NM_000227:exon20:c.G2652C:p.Q884H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2652C:p.Q884H;ENSG00000053747:ENST00000587184:exon19:c.G2484C:p.Q828H;ENSG00000053747:ENST00000399516:exon56:c.G7311C:p.Q2437H;ENSG00000053747:ENST00000313654:exon57:c.G7479C:p.Q2493H;	0.00685919922834701	0.14
18	21494523	G	T	18	23914559	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.G7479T:p.Q2493H;LAMA3:NM_001127718:exon19:c.G2484T:p.Q828H;LAMA3:NM_001127717:exon56:c.G7311T:p.Q2437H;LAMA3:NM_000227:exon20:c.G2652T:p.Q884H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2652T:p.Q884H;ENSG00000053747:ENST00000587184:exon19:c.G2484T:p.Q828H;ENSG00000053747:ENST00000399516:exon56:c.G7311T:p.Q2437H;ENSG00000053747:ENST00000313654:exon57:c.G7479T:p.Q2493H;	0.798268932863532	0.374
18	21494524	A	C	18	23914560	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon57:c.A7480C:p.R2494R;LAMA3:NM_001127718:exon19:c.A2485C:p.R829R;LAMA3:NM_001127717:exon56:c.A7312C:p.R2438R;LAMA3:NM_000227:exon20:c.A2653C:p.R885R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.A2653C:p.R885R;ENSG00000053747:ENST00000587184:exon19:c.A2485C:p.R829R;ENSG00000053747:ENST00000399516:exon56:c.A7312C:p.R2438R;ENSG00000053747:ENST00000313654:exon57:c.A7480C:p.R2494R;	0.946297834028468	0.868
18	21494524	A	G	18	23914560	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.A7480G:p.R2494G;LAMA3:NM_001127718:exon19:c.A2485G:p.R829G;LAMA3:NM_001127717:exon56:c.A7312G:p.R2438G;LAMA3:NM_000227:exon20:c.A2653G:p.R885G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.A2653G:p.R885G;ENSG00000053747:ENST00000587184:exon19:c.A2485G:p.R829G;ENSG00000053747:ENST00000399516:exon56:c.A7312G:p.R2438G;ENSG00000053747:ENST00000313654:exon57:c.A7480G:p.R2494G;	0.999959586737666	0.936
18	21494524	A	T	18	23914560	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon57:c.A7480T:p.R2494X;LAMA3:NM_001127718:exon19:c.A2485T:p.R829X;LAMA3:NM_001127717:exon56:c.A7312T:p.R2438X;LAMA3:NM_000227:exon20:c.A2653T:p.R885X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon20:c.A2653T:p.R885X;ENSG00000053747:ENST00000587184:exon19:c.A2485T:p.R829X;ENSG00000053747:ENST00000399516:exon56:c.A7312T:p.R2438X;ENSG00000053747:ENST00000313654:exon57:c.A7480T:p.R2494X;	0.999950617967072	0.904
18	21494525	G	A	18	23914561	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.G7481A:p.R2494K;LAMA3:NM_001127718:exon19:c.G2486A:p.R829K;LAMA3:NM_001127717:exon56:c.G7313A:p.R2438K;LAMA3:NM_000227:exon20:c.G2654A:p.R885K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2654A:p.R885K;ENSG00000053747:ENST00000587184:exon19:c.G2486A:p.R829K;ENSG00000053747:ENST00000399516:exon56:c.G7313A:p.R2438K;ENSG00000053747:ENST00000313654:exon57:c.G7481A:p.R2494K;	0.999995428314633	1.0
18	21494525	G	C	18	23914561	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.G7481C:p.R2494T;LAMA3:NM_001127718:exon19:c.G2486C:p.R829T;LAMA3:NM_001127717:exon56:c.G7313C:p.R2438T;LAMA3:NM_000227:exon20:c.G2654C:p.R885T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2654C:p.R885T;ENSG00000053747:ENST00000587184:exon19:c.G2486C:p.R829T;ENSG00000053747:ENST00000399516:exon56:c.G7313C:p.R2438T;ENSG00000053747:ENST00000313654:exon57:c.G7481C:p.R2494T;	0.99999661290925	1.0
18	21494525	G	T	18	23914561	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon57:c.G7481T:p.R2494I;LAMA3:NM_001127718:exon19:c.G2486T:p.R829I;LAMA3:NM_001127717:exon56:c.G7313T:p.R2438I;LAMA3:NM_000227:exon20:c.G2654T:p.R885I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon20:c.G2654T:p.R885I;ENSG00000053747:ENST00000587184:exon19:c.G2486T:p.R829I;ENSG00000053747:ENST00000399516:exon56:c.G7313T:p.R2438I;ENSG00000053747:ENST00000313654:exon57:c.G7481T:p.R2494I;	0.999992581621154	0.98
18	21494526	G	A	18	23914562	y	y	splicing	LAMA3(NM_001127717:exon56:c.7313+1G>A;NM_198129:exon57:c.7481+1G>A;NM_001127718:exon19:c.2486+1G>A;NM_000227:exon20:c.2654+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7481+1G>A;ENST00000399516:exon56:c.7313+1G>A;ENST00000269217:exon20:c.2654+1G>A;ENST00000587184:exon19:c.2486+1G>A;ENST00000586751:exon17:c.2259+1G>A)	.	.	0.999986675681007	0.93
18	21494526	G	C	18	23914562	y	y	splicing	LAMA3(NM_001127717:exon56:c.7313+1G>C;NM_198129:exon57:c.7481+1G>C;NM_001127718:exon19:c.2486+1G>C;NM_000227:exon20:c.2654+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7481+1G>C;ENST00000399516:exon56:c.7313+1G>C;ENST00000269217:exon20:c.2654+1G>C;ENST00000587184:exon19:c.2486+1G>C;ENST00000586751:exon17:c.2259+1G>C)	.	.	0.999986675681007	0.928
18	21494526	G	T	18	23914562	y	y	splicing	LAMA3(NM_001127717:exon56:c.7313+1G>T;NM_198129:exon57:c.7481+1G>T;NM_001127718:exon19:c.2486+1G>T;NM_000227:exon20:c.2654+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7481+1G>T;ENST00000399516:exon56:c.7313+1G>T;ENST00000269217:exon20:c.2654+1G>T;ENST00000587184:exon19:c.2486+1G>T;ENST00000586751:exon17:c.2259+1G>T)	.	.	0.999986675681007	0.928
18	21494527	T	A	18	23914563	y	y	splicing	LAMA3(NM_001127717:exon56:c.7313+2T>A;NM_198129:exon57:c.7481+2T>A;NM_001127718:exon19:c.2486+2T>A;NM_000227:exon20:c.2654+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7481+2T>A;ENST00000399516:exon56:c.7313+2T>A;ENST00000269217:exon20:c.2654+2T>A;ENST00000587184:exon19:c.2486+2T>A;ENST00000586751:exon17:c.2259+2T>A)	.	.	0.999989917668626	0.916
18	21494527	T	C	18	23914563	y	y	splicing	LAMA3(NM_001127717:exon56:c.7313+2T>C;NM_198129:exon57:c.7481+2T>C;NM_001127718:exon19:c.2486+2T>C;NM_000227:exon20:c.2654+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7481+2T>C;ENST00000399516:exon56:c.7313+2T>C;ENST00000269217:exon20:c.2654+2T>C;ENST00000587184:exon19:c.2486+2T>C;ENST00000586751:exon17:c.2259+2T>C)	.	.	0.986528855787127	0.596
18	21494527	T	G	18	23914563	y	y	splicing	LAMA3(NM_001127717:exon56:c.7313+2T>G;NM_198129:exon57:c.7481+2T>G;NM_001127718:exon19:c.2486+2T>G;NM_000227:exon20:c.2654+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon57:c.7481+2T>G;ENST00000399516:exon56:c.7313+2T>G;ENST00000269217:exon20:c.2654+2T>G;ENST00000587184:exon19:c.2486+2T>G;ENST00000586751:exon17:c.2259+2T>G)	.	.	0.999989917668626	0.916
18	21494528	A	C	18	23914564	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999697595333176	0.724
18	21494528	A	G	18	23914564	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996846842040548	0.692
18	21494528	A	T	18	23914564	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999783035487767	0.718
18	21494529	C	A	18	23914565	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6949884678208E-4	0.114
18	21494529	C	G	18	23914565	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.73342910096916E-4	0.094
18	21494529	C	T	18	23914565	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.98048833571418E-4	0.12
18	21494530	A	C	18	23914566	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.54399022674305E-5	0.036
18	21494530	A	G	18	23914566	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.58596070433396E-5	0.024
18	21494530	A	T	18	23914566	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.01320458130557E-4	0.022
18	21494531	A	C	18	23914567	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.16312221806472E-4	0.074
18	21494531	A	G	18	23914567	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.35133575034938E-5	0.016
18	21494531	A	T	18	23914567	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.70148747703379E-5	0.026
18	21494532	G	A	18	23914568	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.53817293322965E-5	0.004
18	21494532	G	C	18	23914568	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.08977279252047E-5	0.006
18	21494532	G	T	18	23914568	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.55491383015852E-5	0.036
18	21494533	T	A	18	23914569	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.80139886177097E-6	0.0
18	21494533	T	C	18	23914569	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.11692848990639E-5	0.002
18	21494533	T	G	18	23914569	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.8874902239115E-6	0.002
18	21494650	C	A	18	23914686	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.71516691950321E-4	0.062
18	21494650	C	G	18	23914686	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.67012630101194E-4	0.106
18	21494650	C	T	18	23914686	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.90550054261039E-5	0.004
18	21494651	A	C	18	23914687	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.67944982512943E-5	0.0
18	21494651	A	G	18	23914687	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.63065284904611E-6	0.0
18	21494651	A	T	18	23914687	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.36475164215061E-5	0.036
18	21494652	T	A	18	23914688	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.217956864442205	0.464
18	21494652	T	C	18	23914688	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00264204299971355	0.052
18	21494652	T	G	18	23914688	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999871265749187	0.98
18	21494653	T	A	18	23914689	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0323367101445832	0.308
18	21494653	T	C	18	23914689	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00160438061849135	0.072
18	21494653	T	G	18	23914689	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0937002582547022	0.37
18	21494654	T	A	18	23914690	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00793070504989504	0.178
18	21494654	T	C	18	23914690	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.19328041484678E-5	0.014
18	21494654	T	G	18	23914690	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00170398510718522	0.194
18	21494655	T	A	18	23914691	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0734284302114618	0.316
18	21494655	T	C	18	23914691	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.807765696912E-5	0.04
18	21494655	T	G	18	23914691	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0195987386703649	0.238
18	21494656	A	C	18	23914692	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.7170279218718E-6	0.004
18	21494656	A	G	18	23914692	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.66886039773716E-5	0.026
18	21494656	A	T	18	23914692	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.7170279218718E-6	0.0
18	21494657	A	C	18	23914693	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.74493646033591E-5	0.018
18	21494657	A	G	18	23914693	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999053667957325	0.974
18	21494657	A	T	18	23914693	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.86038633039252E-5	0.036
18	21494658	A	C	18	23914694	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00101709883153563	0.046
18	21494658	A	G	18	23914694	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999244831349621	0.964
18	21494658	A	T	18	23914694	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00485487424802772	0.078
18	21494659	C	A	18	23914695	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99890878252678	0.862
18	21494659	C	G	18	23914695	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999015371761304	0.692
18	21494659	C	T	18	23914695	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0113324346442699	0.148
18	21494660	A	C	18	23914696	y	y	splicing	LAMA3(NM_001127717:exon57:c.7314-2A>C;NM_198129:exon58:c.7482-2A>C;NM_001127718:exon20:c.2487-2A>C;NM_000227:exon21:c.2655-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7482-2A>C;ENST00000399516:exon57:c.7314-2A>C;ENST00000269217:exon21:c.2655-2A>C;ENST00000587184:exon20:c.2487-2A>C;ENST00000586751:exon18:c.2260-2A>C)	.	.	0.999982322733069	0.898
18	21494660	A	G	18	23914696	y	y	splicing	LAMA3(NM_001127717:exon57:c.7314-2A>G;NM_198129:exon58:c.7482-2A>G;NM_001127718:exon20:c.2487-2A>G;NM_000227:exon21:c.2655-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7482-2A>G;ENST00000399516:exon57:c.7314-2A>G;ENST00000269217:exon21:c.2655-2A>G;ENST00000587184:exon20:c.2487-2A>G;ENST00000586751:exon18:c.2260-2A>G)	.	.	0.999982322733069	0.898
18	21494660	A	T	18	23914696	y	y	splicing	LAMA3(NM_001127717:exon57:c.7314-2A>T;NM_198129:exon58:c.7482-2A>T;NM_001127718:exon20:c.2487-2A>T;NM_000227:exon21:c.2655-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7482-2A>T;ENST00000399516:exon57:c.7314-2A>T;ENST00000269217:exon21:c.2655-2A>T;ENST00000587184:exon20:c.2487-2A>T;ENST00000586751:exon18:c.2260-2A>T)	.	.	0.999982322733069	0.898
18	21494661	G	A	18	23914697	y	y	splicing	LAMA3(NM_001127717:exon57:c.7314-1G>A;NM_198129:exon58:c.7482-1G>A;NM_001127718:exon20:c.2487-1G>A;NM_000227:exon21:c.2655-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7482-1G>A;ENST00000399516:exon57:c.7314-1G>A;ENST00000269217:exon21:c.2655-1G>A;ENST00000587184:exon20:c.2487-1G>A;ENST00000586751:exon18:c.2260-1G>A)	.	.	0.999976638640456	0.9
18	21494661	G	C	18	23914697	y	y	splicing	LAMA3(NM_001127717:exon57:c.7314-1G>C;NM_198129:exon58:c.7482-1G>C;NM_001127718:exon20:c.2487-1G>C;NM_000227:exon21:c.2655-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7482-1G>C;ENST00000399516:exon57:c.7314-1G>C;ENST00000269217:exon21:c.2655-1G>C;ENST00000587184:exon20:c.2487-1G>C;ENST00000586751:exon18:c.2260-1G>C)	.	.	0.999976638640456	0.9
18	21494661	G	T	18	23914697	y	y	splicing	LAMA3(NM_001127717:exon57:c.7314-1G>T;NM_198129:exon58:c.7482-1G>T;NM_001127718:exon20:c.2487-1G>T;NM_000227:exon21:c.2655-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7482-1G>T;ENST00000399516:exon57:c.7314-1G>T;ENST00000269217:exon21:c.2655-1G>T;ENST00000587184:exon20:c.2487-1G>T;ENST00000586751:exon18:c.2260-1G>T)	.	.	0.999976638640456	0.892
18	21494662	A	C	18	23914698	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7482C:p.R2494S;LAMA3:NM_001127718:exon20:c.A2487C:p.R829S;LAMA3:NM_001127717:exon57:c.A7314C:p.R2438S;LAMA3:NM_000227:exon21:c.A2655C:p.R885S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2655C:p.R885S;ENSG00000053747:ENST00000587184:exon20:c.A2487C:p.R829S;ENSG00000053747:ENST00000399516:exon57:c.A7314C:p.R2438S;ENSG00000053747:ENST00000313654:exon58:c.A7482C:p.R2494S;	7.08482852816671E-4	0.096
18	21494662	A	G	18	23914698	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon58:c.A7482G:p.R2494R;LAMA3:NM_001127718:exon20:c.A2487G:p.R829R;LAMA3:NM_001127717:exon57:c.A7314G:p.R2438R;LAMA3:NM_000227:exon21:c.A2655G:p.R885R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2655G:p.R885R;ENSG00000053747:ENST00000587184:exon20:c.A2487G:p.R829R;ENSG00000053747:ENST00000399516:exon57:c.A7314G:p.R2438R;ENSG00000053747:ENST00000313654:exon58:c.A7482G:p.R2494R;	6.31557363134431E-6	0.004
18	21494662	A	T	18	23914698	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7482T:p.R2494S;LAMA3:NM_001127718:exon20:c.A2487T:p.R829S;LAMA3:NM_001127717:exon57:c.A7314T:p.R2438S;LAMA3:NM_000227:exon21:c.A2655T:p.R885S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2655T:p.R885S;ENSG00000053747:ENST00000587184:exon20:c.A2487T:p.R829S;ENSG00000053747:ENST00000399516:exon57:c.A7314T:p.R2438S;ENSG00000053747:ENST00000313654:exon58:c.A7482T:p.R2494S;	2.38308354656862E-4	0.14
18	21494663	A	C	18	23914699	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7483C:p.I2495L;LAMA3:NM_001127718:exon20:c.A2488C:p.I830L;LAMA3:NM_001127717:exon57:c.A7315C:p.I2439L;LAMA3:NM_000227:exon21:c.A2656C:p.I886L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2656C:p.I886L;ENSG00000053747:ENST00000587184:exon20:c.A2488C:p.I830L;ENSG00000053747:ENST00000399516:exon57:c.A7315C:p.I2439L;ENSG00000053747:ENST00000313654:exon58:c.A7483C:p.I2495L;	0.634490433536827	0.696
18	21494663	A	G	18	23914699	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7483G:p.I2495V;LAMA3:NM_001127718:exon20:c.A2488G:p.I830V;LAMA3:NM_001127717:exon57:c.A7315G:p.I2439V;LAMA3:NM_000227:exon21:c.A2656G:p.I886V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2656G:p.I886V;ENSG00000053747:ENST00000587184:exon20:c.A2488G:p.I830V;ENSG00000053747:ENST00000399516:exon57:c.A7315G:p.I2439V;ENSG00000053747:ENST00000313654:exon58:c.A7483G:p.I2495V;	0.663989877630421	0.594
18	21494663	A	T	18	23914699	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7483T:p.I2495F;LAMA3:NM_001127718:exon20:c.A2488T:p.I830F;LAMA3:NM_001127717:exon57:c.A7315T:p.I2439F;LAMA3:NM_000227:exon21:c.A2656T:p.I886F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2656T:p.I886F;ENSG00000053747:ENST00000587184:exon20:c.A2488T:p.I830F;ENSG00000053747:ENST00000399516:exon57:c.A7315T:p.I2439F;ENSG00000053747:ENST00000313654:exon58:c.A7483T:p.I2495F;	0.603075358576974	0.648
18	21494822	A	C	18	23914858	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7642C:p.K2548Q;LAMA3:NM_001127718:exon20:c.A2647C:p.K883Q;LAMA3:NM_001127717:exon57:c.A7474C:p.K2492Q;LAMA3:NM_000227:exon21:c.A2815C:p.K939Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2815C:p.K939Q;ENSG00000053747:ENST00000587184:exon20:c.A2647C:p.K883Q;ENSG00000053747:ENST00000399516:exon57:c.A7474C:p.K2492Q;ENSG00000053747:ENST00000313654:exon58:c.A7642C:p.K2548Q;	7.58707161335329E-5	0.0
18	21494822	A	G	18	23914858	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7642G:p.K2548E;LAMA3:NM_001127718:exon20:c.A2647G:p.K883E;LAMA3:NM_001127717:exon57:c.A7474G:p.K2492E;LAMA3:NM_000227:exon21:c.A2815G:p.K939E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2815G:p.K939E;ENSG00000053747:ENST00000587184:exon20:c.A2647G:p.K883E;ENSG00000053747:ENST00000399516:exon57:c.A7474G:p.K2492E;ENSG00000053747:ENST00000313654:exon58:c.A7642G:p.K2548E;	7.80281304964381E-5	0.008
18	21494822	A	T	18	23914858	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon58:c.A7642T:p.K2548X;LAMA3:NM_001127718:exon20:c.A2647T:p.K883X;LAMA3:NM_001127717:exon57:c.A7474T:p.K2492X;LAMA3:NM_000227:exon21:c.A2815T:p.K939X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon21:c.A2815T:p.K939X;ENSG00000053747:ENST00000587184:exon20:c.A2647T:p.K883X;ENSG00000053747:ENST00000399516:exon57:c.A7474T:p.K2492X;ENSG00000053747:ENST00000313654:exon58:c.A7642T:p.K2548X;	0.00378831323706471	0.428
18	21494823	A	C	18	23914859	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7643C:p.K2548T;LAMA3:NM_001127718:exon20:c.A2648C:p.K883T;LAMA3:NM_001127717:exon57:c.A7475C:p.K2492T;LAMA3:NM_000227:exon21:c.A2816C:p.K939T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2816C:p.K939T;ENSG00000053747:ENST00000587184:exon20:c.A2648C:p.K883T;ENSG00000053747:ENST00000399516:exon57:c.A7475C:p.K2492T;ENSG00000053747:ENST00000313654:exon58:c.A7643C:p.K2548T;	0.100455143144148	0.418
18	21494823	A	G	18	23914859	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7643G:p.K2548R;LAMA3:NM_001127718:exon20:c.A2648G:p.K883R;LAMA3:NM_001127717:exon57:c.A7475G:p.K2492R;LAMA3:NM_000227:exon21:c.A2816G:p.K939R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2816G:p.K939R;ENSG00000053747:ENST00000587184:exon20:c.A2648G:p.K883R;ENSG00000053747:ENST00000399516:exon57:c.A7475G:p.K2492R;ENSG00000053747:ENST00000313654:exon58:c.A7643G:p.K2548R;	0.046557614706049	0.322
18	21494823	A	T	18	23914859	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7643T:p.K2548I;LAMA3:NM_001127718:exon20:c.A2648T:p.K883I;LAMA3:NM_001127717:exon57:c.A7475T:p.K2492I;LAMA3:NM_000227:exon21:c.A2816T:p.K939I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2816T:p.K939I;ENSG00000053747:ENST00000587184:exon20:c.A2648T:p.K883I;ENSG00000053747:ENST00000399516:exon57:c.A7475T:p.K2492I;ENSG00000053747:ENST00000313654:exon58:c.A7643T:p.K2548I;	0.125853581926466	0.486
18	21494824	A	C	18	23914860	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7644C:p.K2548N;LAMA3:NM_001127718:exon20:c.A2649C:p.K883N;LAMA3:NM_001127717:exon57:c.A7476C:p.K2492N;LAMA3:NM_000227:exon21:c.A2817C:p.K939N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2817C:p.K939N;ENSG00000053747:ENST00000587184:exon20:c.A2649C:p.K883N;ENSG00000053747:ENST00000399516:exon57:c.A7476C:p.K2492N;ENSG00000053747:ENST00000313654:exon58:c.A7644C:p.K2548N;	8.10063363517121E-5	0.052
18	21494824	A	G	18	23914860	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon58:c.A7644G:p.K2548K;LAMA3:NM_001127718:exon20:c.A2649G:p.K883K;LAMA3:NM_001127717:exon57:c.A7476G:p.K2492K;LAMA3:NM_000227:exon21:c.A2817G:p.K939K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2817G:p.K939K;ENSG00000053747:ENST00000587184:exon20:c.A2649G:p.K883K;ENSG00000053747:ENST00000399516:exon57:c.A7476G:p.K2492K;ENSG00000053747:ENST00000313654:exon58:c.A7644G:p.K2548K;	2.37860421462526E-5	0.028
18	21494824	A	T	18	23914860	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon58:c.A7644T:p.K2548N;LAMA3:NM_001127718:exon20:c.A2649T:p.K883N;LAMA3:NM_001127717:exon57:c.A7476T:p.K2492N;LAMA3:NM_000227:exon21:c.A2817T:p.K939N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon21:c.A2817T:p.K939N;ENSG00000053747:ENST00000587184:exon20:c.A2649T:p.K883N;ENSG00000053747:ENST00000399516:exon57:c.A7476T:p.K2492N;ENSG00000053747:ENST00000313654:exon58:c.A7644T:p.K2548N;	2.17812183510777E-4	0.036
18	21494825	G	A	18	23914861	y	y	splicing	LAMA3(NM_001127717:exon57:c.7476+1G>A;NM_198129:exon58:c.7644+1G>A;NM_001127718:exon20:c.2649+1G>A;NM_000227:exon21:c.2817+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7644+1G>A;ENST00000399516:exon57:c.7476+1G>A;ENST00000269217:exon21:c.2817+1G>A;ENST00000587184:exon20:c.2649+1G>A;ENST00000586751:exon18:c.2422+1G>A)	.	.	0.999986675681007	0.934
18	21494825	G	C	18	23914861	y	y	splicing	LAMA3(NM_001127717:exon57:c.7476+1G>C;NM_198129:exon58:c.7644+1G>C;NM_001127718:exon20:c.2649+1G>C;NM_000227:exon21:c.2817+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7644+1G>C;ENST00000399516:exon57:c.7476+1G>C;ENST00000269217:exon21:c.2817+1G>C;ENST00000587184:exon20:c.2649+1G>C;ENST00000586751:exon18:c.2422+1G>C)	.	.	0.999986675681007	0.934
18	21494825	G	T	18	23914861	y	y	splicing	LAMA3(NM_001127717:exon57:c.7476+1G>T;NM_198129:exon58:c.7644+1G>T;NM_001127718:exon20:c.2649+1G>T;NM_000227:exon21:c.2817+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7644+1G>T;ENST00000399516:exon57:c.7476+1G>T;ENST00000269217:exon21:c.2817+1G>T;ENST00000587184:exon20:c.2649+1G>T;ENST00000586751:exon18:c.2422+1G>T)	.	.	0.999986675681007	0.934
18	21494826	T	A	18	23914862	y	y	splicing	LAMA3(NM_001127717:exon57:c.7476+2T>A;NM_198129:exon58:c.7644+2T>A;NM_001127718:exon20:c.2649+2T>A;NM_000227:exon21:c.2817+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7644+2T>A;ENST00000399516:exon57:c.7476+2T>A;ENST00000269217:exon21:c.2817+2T>A;ENST00000587184:exon20:c.2649+2T>A;ENST00000586751:exon18:c.2422+2T>A)	.	.	0.999989917668626	0.928
18	21494826	T	C	18	23914862	y	y	splicing	LAMA3(NM_001127717:exon57:c.7476+2T>C;NM_198129:exon58:c.7644+2T>C;NM_001127718:exon20:c.2649+2T>C;NM_000227:exon21:c.2817+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7644+2T>C;ENST00000399516:exon57:c.7476+2T>C;ENST00000269217:exon21:c.2817+2T>C;ENST00000587184:exon20:c.2649+2T>C;ENST00000586751:exon18:c.2422+2T>C)	.	.	0.991781671885672	0.604
18	21494826	T	G	18	23914862	y	y	splicing	LAMA3(NM_001127717:exon57:c.7476+2T>G;NM_198129:exon58:c.7644+2T>G;NM_001127718:exon20:c.2649+2T>G;NM_000227:exon21:c.2817+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon58:c.7644+2T>G;ENST00000399516:exon57:c.7476+2T>G;ENST00000269217:exon21:c.2817+2T>G;ENST00000587184:exon20:c.2649+2T>G;ENST00000586751:exon18:c.2422+2T>G)	.	.	0.999989917668626	0.928
18	21494827	A	C	18	23914863	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999506154589029	0.86
18	21494827	A	G	18	23914863	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.12124681850901	0.266
18	21494827	A	T	18	23914863	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.972650070316981	0.642
18	21494828	A	C	18	23914864	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.341157303163026	0.336
18	21494828	A	G	18	23914864	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.896423494646621	0.618
18	21494828	A	T	18	23914864	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.779776597947297	0.438
18	21494829	G	A	18	23914865	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996914442981103	0.95
18	21494829	G	C	18	23914865	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.983315428600816	0.848
18	21494829	G	T	18	23914865	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999140024103376	0.904
18	21494830	T	A	18	23914866	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.847182106834739	0.508
18	21494830	T	C	18	23914866	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.600684637849375	0.46
18	21494830	T	G	18	23914866	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.475339054479726	0.446
18	21494831	G	A	18	23914867	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.04837159161939E-4	0.008
18	21494831	G	C	18	23914867	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09579309754158E-4	0.006
18	21494831	G	T	18	23914867	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.03806953816349E-5	0.006
18	21494832	T	A	18	23914868	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.27554537890337E-4	0.0
18	21494832	T	C	18	23914868	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.86511753281719E-4	0.014
18	21494832	T	G	18	23914868	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.86511753281719E-4	0.008
18	21495241	T	A	18	23915277	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.015055985053555	0.292
18	21495241	T	C	18	23915277	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.36514249941049E-4	0.03
18	21495241	T	G	18	23915277	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999793997127012	0.972
18	21495242	T	A	18	23915278	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.362583392304002	0.426
18	21495242	T	C	18	23915278	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.26169022475328E-4	0.166
18	21495242	T	G	18	23915278	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.420433339526432	0.404
18	21495243	T	A	18	23915279	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0684242741549532	0.426
18	21495243	T	C	18	23915279	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.66413184258178E-4	0.0
18	21495243	T	G	18	23915279	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.375986048944998	0.468
18	21495244	C	A	18	23915280	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.29375504451983E-4	0.024
18	21495244	C	G	18	23915280	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00155695401078199	0.114
18	21495244	C	T	18	23915280	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.47308175865378E-5	0.002
18	21495245	A	C	18	23915281	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.75343377198071E-5	0.006
18	21495245	A	G	18	23915281	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.04900693216345E-6	0.0
18	21495245	A	T	18	23915281	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.55090100199576E-5	0.0
18	21495246	T	A	18	23915282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00573349291209579	0.178
18	21495246	T	C	18	23915282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.55775689014274E-5	0.024
18	21495246	T	G	18	23915282	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999314055413007	0.974
18	21495247	T	A	18	23915283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.397767657768605	0.432
18	21495247	T	C	18	23915283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.02448193570893E-4	0.004
18	21495247	T	G	18	23915283	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.411704371014952	0.428
18	21495248	T	A	18	23915284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.824510346702108	0.384
18	21495248	T	C	18	23915284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0176616091109724	0.25
18	21495248	T	G	18	23915284	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.853389239562712	0.444
18	21495249	T	A	18	23915285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.39597773580249E-5	0.0
18	21495249	T	C	18	23915285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.56280720412171E-6	0.016
18	21495249	T	G	18	23915285	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.32383918413247E-6	0.0
18	21495250	C	A	18	23915286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.088353134714213	0.412
18	21495250	C	G	18	23915286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997861615066026	0.97
18	21495250	C	T	18	23915286	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.20643671574607E-4	0.014
18	21495251	A	C	18	23915287	y	y	splicing	LAMA3(NM_001127717:exon58:c.7477-2A>C;NM_198129:exon59:c.7645-2A>C;NM_001127718:exon21:c.2650-2A>C;NM_000227:exon22:c.2818-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7645-2A>C;ENST00000399516:exon58:c.7477-2A>C;ENST00000269217:exon22:c.2818-2A>C;ENST00000587184:exon21:c.2650-2A>C;ENST00000586751:exon19:c.2423-2A>C)	.	.	0.999966203349492	0.944
18	21495251	A	G	18	23915287	y	y	splicing	LAMA3(NM_001127717:exon58:c.7477-2A>G;NM_198129:exon59:c.7645-2A>G;NM_001127718:exon21:c.2650-2A>G;NM_000227:exon22:c.2818-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7645-2A>G;ENST00000399516:exon58:c.7477-2A>G;ENST00000269217:exon22:c.2818-2A>G;ENST00000587184:exon21:c.2650-2A>G;ENST00000586751:exon19:c.2423-2A>G)	.	.	0.999966203349492	0.944
18	21495251	A	T	18	23915287	y	y	splicing	LAMA3(NM_001127717:exon58:c.7477-2A>T;NM_198129:exon59:c.7645-2A>T;NM_001127718:exon21:c.2650-2A>T;NM_000227:exon22:c.2818-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7645-2A>T;ENST00000399516:exon58:c.7477-2A>T;ENST00000269217:exon22:c.2818-2A>T;ENST00000587184:exon21:c.2650-2A>T;ENST00000586751:exon19:c.2423-2A>T)	.	.	0.999966203349492	0.938
18	21495252	G	A	18	23915288	y	y	splicing	LAMA3(NM_001127717:exon58:c.7477-1G>A;NM_198129:exon59:c.7645-1G>A;NM_001127718:exon21:c.2650-1G>A;NM_000227:exon22:c.2818-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7645-1G>A;ENST00000399516:exon58:c.7477-1G>A;ENST00000269217:exon22:c.2818-1G>A;ENST00000587184:exon21:c.2650-1G>A;ENST00000586751:exon19:c.2423-1G>A)	.	.	0.999938422912956	0.942
18	21495252	G	C	18	23915288	y	y	splicing	LAMA3(NM_001127717:exon58:c.7477-1G>C;NM_198129:exon59:c.7645-1G>C;NM_001127718:exon21:c.2650-1G>C;NM_000227:exon22:c.2818-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7645-1G>C;ENST00000399516:exon58:c.7477-1G>C;ENST00000269217:exon22:c.2818-1G>C;ENST00000587184:exon21:c.2650-1G>C;ENST00000586751:exon19:c.2423-1G>C)	.	.	0.999938422912956	0.952
18	21495252	G	T	18	23915288	y	y	splicing	LAMA3(NM_001127717:exon58:c.7477-1G>T;NM_198129:exon59:c.7645-1G>T;NM_001127718:exon21:c.2650-1G>T;NM_000227:exon22:c.2818-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7645-1G>T;ENST00000399516:exon58:c.7477-1G>T;ENST00000269217:exon22:c.2818-1G>T;ENST00000587184:exon21:c.2650-1G>T;ENST00000586751:exon19:c.2423-1G>T)	.	.	0.999938422912956	0.952
18	21495253	C	A	18	23915289	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.C7645A:p.L2549I;LAMA3:NM_001127718:exon21:c.C2650A:p.L884I;LAMA3:NM_001127717:exon58:c.C7477A:p.L2493I;LAMA3:NM_000227:exon22:c.C2818A:p.L940I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.C2818A:p.L940I;ENSG00000053747:ENST00000587184:exon21:c.C2650A:p.L884I;ENSG00000053747:ENST00000399516:exon58:c.C7477A:p.L2493I;ENSG00000053747:ENST00000313654:exon59:c.C7645A:p.L2549I;	0.719650840091267	0.568
18	21495253	C	G	18	23915289	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.C7645G:p.L2549V;LAMA3:NM_001127718:exon21:c.C2650G:p.L884V;LAMA3:NM_001127717:exon58:c.C7477G:p.L2493V;LAMA3:NM_000227:exon22:c.C2818G:p.L940V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.C2818G:p.L940V;ENSG00000053747:ENST00000587184:exon21:c.C2650G:p.L884V;ENSG00000053747:ENST00000399516:exon58:c.C7477G:p.L2493V;ENSG00000053747:ENST00000313654:exon59:c.C7645G:p.L2549V;	0.573930706244962	0.39
18	21495253	C	T	18	23915289	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.C7645T:p.L2549F;LAMA3:NM_001127718:exon21:c.C2650T:p.L884F;LAMA3:NM_001127717:exon58:c.C7477T:p.L2493F;LAMA3:NM_000227:exon22:c.C2818T:p.L940F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.C2818T:p.L940F;ENSG00000053747:ENST00000587184:exon21:c.C2650T:p.L884F;ENSG00000053747:ENST00000399516:exon58:c.C7477T:p.L2493F;ENSG00000053747:ENST00000313654:exon59:c.C7645T:p.L2549F;	0.987640873802385	0.844
18	21495254	T	A	18	23915290	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.T7646A:p.L2549H;LAMA3:NM_001127718:exon21:c.T2651A:p.L884H;LAMA3:NM_001127717:exon58:c.T7478A:p.L2493H;LAMA3:NM_000227:exon22:c.T2819A:p.L940H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.T2819A:p.L940H;ENSG00000053747:ENST00000587184:exon21:c.T2651A:p.L884H;ENSG00000053747:ENST00000399516:exon58:c.T7478A:p.L2493H;ENSG00000053747:ENST00000313654:exon59:c.T7646A:p.L2549H;	0.00194249334332026	0.086
18	21495254	T	C	18	23915290	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.T7646C:p.L2549P;LAMA3:NM_001127718:exon21:c.T2651C:p.L884P;LAMA3:NM_001127717:exon58:c.T7478C:p.L2493P;LAMA3:NM_000227:exon22:c.T2819C:p.L940P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.T2819C:p.L940P;ENSG00000053747:ENST00000587184:exon21:c.T2651C:p.L884P;ENSG00000053747:ENST00000399516:exon58:c.T7478C:p.L2493P;ENSG00000053747:ENST00000313654:exon59:c.T7646C:p.L2549P;	2.24417168744902E-4	0.056
18	21495254	T	G	18	23915290	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.T7646G:p.L2549R;LAMA3:NM_001127718:exon21:c.T2651G:p.L884R;LAMA3:NM_001127717:exon58:c.T7478G:p.L2493R;LAMA3:NM_000227:exon22:c.T2819G:p.L940R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.T2819G:p.L940R;ENSG00000053747:ENST00000587184:exon21:c.T2651G:p.L884R;ENSG00000053747:ENST00000399516:exon58:c.T7478G:p.L2493R;ENSG00000053747:ENST00000313654:exon59:c.T7646G:p.L2549R;	1.86852234557273E-4	0.148
18	21495384	A	C	18	23915420	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.A7776C:p.R2592S;LAMA3:NM_001127718:exon21:c.A2781C:p.R927S;LAMA3:NM_001127717:exon58:c.A7608C:p.R2536S;LAMA3:NM_000227:exon22:c.A2949C:p.R983S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.A2949C:p.R983S;ENSG00000053747:ENST00000587184:exon21:c.A2781C:p.R927S;ENSG00000053747:ENST00000399516:exon58:c.A7608C:p.R2536S;ENSG00000053747:ENST00000313654:exon59:c.A7776C:p.R2592S;	2.36674111182864E-4	0.162
18	21495384	A	G	18	23915420	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon59:c.A7776G:p.R2592R;LAMA3:NM_001127718:exon21:c.A2781G:p.R927R;LAMA3:NM_001127717:exon58:c.A7608G:p.R2536R;LAMA3:NM_000227:exon22:c.A2949G:p.R983R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.A2949G:p.R983R;ENSG00000053747:ENST00000587184:exon21:c.A2781G:p.R927R;ENSG00000053747:ENST00000399516:exon58:c.A7608G:p.R2536R;ENSG00000053747:ENST00000313654:exon59:c.A7776G:p.R2592R;	3.82908836718717E-4	0.01
18	21495384	A	T	18	23915420	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.A7776T:p.R2592S;LAMA3:NM_001127718:exon21:c.A2781T:p.R927S;LAMA3:NM_001127717:exon58:c.A7608T:p.R2536S;LAMA3:NM_000227:exon22:c.A2949T:p.R983S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.A2949T:p.R983S;ENSG00000053747:ENST00000587184:exon21:c.A2781T:p.R927S;ENSG00000053747:ENST00000399516:exon58:c.A7608T:p.R2536S;ENSG00000053747:ENST00000313654:exon59:c.A7776T:p.R2592S;	0.0213985672087746	0.448
18	21495385	A	C	18	23915421	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon59:c.A7777C:p.R2593R;LAMA3:NM_001127718:exon21:c.A2782C:p.R928R;LAMA3:NM_001127717:exon58:c.A7609C:p.R2537R;LAMA3:NM_000227:exon22:c.A2950C:p.R984R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.A2950C:p.R984R;ENSG00000053747:ENST00000587184:exon21:c.A2782C:p.R928R;ENSG00000053747:ENST00000399516:exon58:c.A7609C:p.R2537R;ENSG00000053747:ENST00000313654:exon59:c.A7777C:p.R2593R;	0.194328982083454	0.488
18	21495385	A	G	18	23915421	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.A7777G:p.R2593G;LAMA3:NM_001127718:exon21:c.A2782G:p.R928G;LAMA3:NM_001127717:exon58:c.A7609G:p.R2537G;LAMA3:NM_000227:exon22:c.A2950G:p.R984G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.A2950G:p.R984G;ENSG00000053747:ENST00000587184:exon21:c.A2782G:p.R928G;ENSG00000053747:ENST00000399516:exon58:c.A7609G:p.R2537G;ENSG00000053747:ENST00000313654:exon59:c.A7777G:p.R2593G;	0.930597631406818	0.66
18	21495385	A	T	18	23915421	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.A7777T:p.R2593W;LAMA3:NM_001127718:exon21:c.A2782T:p.R928W;LAMA3:NM_001127717:exon58:c.A7609T:p.R2537W;LAMA3:NM_000227:exon22:c.A2950T:p.R984W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.A2950T:p.R984W;ENSG00000053747:ENST00000587184:exon21:c.A2782T:p.R928W;ENSG00000053747:ENST00000399516:exon58:c.A7609T:p.R2537W;ENSG00000053747:ENST00000313654:exon59:c.A7777T:p.R2593W;	0.971167710225006	0.668
18	21495386	G	A	18	23915422	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.G7778A:p.R2593K;LAMA3:NM_001127718:exon21:c.G2783A:p.R928K;LAMA3:NM_001127717:exon58:c.G7610A:p.R2537K;LAMA3:NM_000227:exon22:c.G2951A:p.R984K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.G2951A:p.R984K;ENSG00000053747:ENST00000587184:exon21:c.G2783A:p.R928K;ENSG00000053747:ENST00000399516:exon58:c.G7610A:p.R2537K;ENSG00000053747:ENST00000313654:exon59:c.G7778A:p.R2593K;	0.999970600155941	0.998
18	21495386	G	C	18	23915422	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.G7778C:p.R2593T;LAMA3:NM_001127718:exon21:c.G2783C:p.R928T;LAMA3:NM_001127717:exon58:c.G7610C:p.R2537T;LAMA3:NM_000227:exon22:c.G2951C:p.R984T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.G2951C:p.R984T;ENSG00000053747:ENST00000587184:exon21:c.G2783C:p.R928T;ENSG00000053747:ENST00000399516:exon58:c.G7610C:p.R2537T;ENSG00000053747:ENST00000313654:exon59:c.G7778C:p.R2593T;	0.999998312535482	0.988
18	21495386	G	T	18	23915422	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon59:c.G7778T:p.R2593M;LAMA3:NM_001127718:exon21:c.G2783T:p.R928M;LAMA3:NM_001127717:exon58:c.G7610T:p.R2537M;LAMA3:NM_000227:exon22:c.G2951T:p.R984M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon22:c.G2951T:p.R984M;ENSG00000053747:ENST00000587184:exon21:c.G2783T:p.R928M;ENSG00000053747:ENST00000399516:exon58:c.G7610T:p.R2537M;ENSG00000053747:ENST00000313654:exon59:c.G7778T:p.R2593M;	0.999973950799978	0.99
18	21495387	G	A	18	23915423	y	y	splicing	LAMA3(NM_001127717:exon58:c.7610+1G>A;NM_198129:exon59:c.7778+1G>A;NM_001127718:exon21:c.2783+1G>A;NM_000227:exon22:c.2951+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7778+1G>A;ENST00000399516:exon58:c.7610+1G>A;ENST00000269217:exon22:c.2951+1G>A;ENST00000587184:exon21:c.2783+1G>A;ENST00000586751:exon19:c.2556+1G>A)	.	.	0.999986675681007	0.94
18	21495387	G	C	18	23915423	y	y	splicing	LAMA3(NM_001127717:exon58:c.7610+1G>C;NM_198129:exon59:c.7778+1G>C;NM_001127718:exon21:c.2783+1G>C;NM_000227:exon22:c.2951+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7778+1G>C;ENST00000399516:exon58:c.7610+1G>C;ENST00000269217:exon22:c.2951+1G>C;ENST00000587184:exon21:c.2783+1G>C;ENST00000586751:exon19:c.2556+1G>C)	.	.	0.999986675681007	0.94
18	21495387	G	T	18	23915423	y	y	splicing	LAMA3(NM_001127717:exon58:c.7610+1G>T;NM_198129:exon59:c.7778+1G>T;NM_001127718:exon21:c.2783+1G>T;NM_000227:exon22:c.2951+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7778+1G>T;ENST00000399516:exon58:c.7610+1G>T;ENST00000269217:exon22:c.2951+1G>T;ENST00000587184:exon21:c.2783+1G>T;ENST00000586751:exon19:c.2556+1G>T)	.	.	0.999986675681007	0.94
18	21495388	T	A	18	23915424	y	y	splicing	LAMA3(NM_001127717:exon58:c.7610+2T>A;NM_198129:exon59:c.7778+2T>A;NM_001127718:exon21:c.2783+2T>A;NM_000227:exon22:c.2951+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7778+2T>A;ENST00000399516:exon58:c.7610+2T>A;ENST00000269217:exon22:c.2951+2T>A;ENST00000587184:exon21:c.2783+2T>A;ENST00000586751:exon19:c.2556+2T>A)	.	.	0.999989917668626	0.928
18	21495388	T	C	18	23915424	y	y	splicing	LAMA3(NM_001127717:exon58:c.7610+2T>C;NM_198129:exon59:c.7778+2T>C;NM_001127718:exon21:c.2783+2T>C;NM_000227:exon22:c.2951+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7778+2T>C;ENST00000399516:exon58:c.7610+2T>C;ENST00000269217:exon22:c.2951+2T>C;ENST00000587184:exon21:c.2783+2T>C;ENST00000586751:exon19:c.2556+2T>C)	.	.	0.991781671885672	0.636
18	21495388	T	G	18	23915424	y	y	splicing	LAMA3(NM_001127717:exon58:c.7610+2T>G;NM_198129:exon59:c.7778+2T>G;NM_001127718:exon21:c.2783+2T>G;NM_000227:exon22:c.2951+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon59:c.7778+2T>G;ENST00000399516:exon58:c.7610+2T>G;ENST00000269217:exon22:c.2951+2T>G;ENST00000587184:exon21:c.2783+2T>G;ENST00000586751:exon19:c.2556+2T>G)	.	.	0.999989917668626	0.928
18	21495389	A	C	18	23915425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998862947855645	0.892
18	21495389	A	G	18	23915425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.788966234956855	0.628
18	21495389	A	T	18	23915425	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999192997542793	0.836
18	21495390	A	C	18	23915426	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.253689740641646	0.38
18	21495390	A	G	18	23915426	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.39548403829295	0.366
18	21495390	A	T	18	23915426	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.588780304075714	0.34
18	21495391	A	C	18	23915427	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.29552076316646E-4	0.026
18	21495391	A	G	18	23915427	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.05259746940417E-5	0.036
18	21495391	A	T	18	23915427	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.99172763821408E-4	0.016
18	21495392	T	A	18	23915428	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00393834074778719	0.18
18	21495392	T	C	18	23915428	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00249084600028662	0.282
18	21495392	T	G	18	23915428	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.99633665257691E-4	0.152
18	21495393	A	C	18	23915429	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.04551991149388E-5	0.012
18	21495393	A	G	18	23915429	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00580682915725E-4	0.006
18	21495393	A	T	18	23915429	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.36474539929107E-4	0.042
18	21495394	A	C	18	23915430	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.52297880296295E-5	0.0
18	21495394	A	G	18	23915430	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.585416616557E-5	0.0
18	21495394	A	T	18	23915430	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.52293868212492E-5	0.0
18	21496503	T	A	18	23916539	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.798592376557006	0.586
18	21496503	T	C	18	23916539	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00159516185312832	0.246
18	21496503	T	G	18	23916539	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.804580665141298	0.632
18	21496504	A	C	18	23916540	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.69522236595633E-6	0.01
18	21496504	A	G	18	23916540	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.32615077782331E-5	0.032
18	21496504	A	T	18	23916540	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.05315685998656E-5	0.048
18	21496505	A	C	18	23916541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.22594887114095E-5	0.008
18	21496505	A	G	18	23916541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996914883774942	0.874
18	21496505	A	T	18	23916541	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.01705569775952E-4	0.042
18	21496506	T	A	18	23916542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996955007046168	0.942
18	21496506	T	C	18	23916542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4478739081729E-4	0.002
18	21496506	T	G	18	23916542	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997177461999728	0.94
18	21496507	G	A	18	23916543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.38025346105234E-5	0.04
18	21496507	G	C	18	23916543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.12278965792014E-5	0.002
18	21496507	G	T	18	23916543	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.12278965792014E-5	0.002
18	21496508	T	A	18	23916544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99427661638853	0.74
18	21496508	T	C	18	23916544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00482858144432129	0.234
18	21496508	T	G	18	23916544	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993972803838096	0.722
18	21496509	T	A	18	23916545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998283251735908	0.93
18	21496509	T	C	18	23916545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.61919947880501E-4	0.036
18	21496509	T	G	18	23916545	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.113654856227666	0.456
18	21496510	G	A	18	23916546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.82294307443543E-5	0.05
18	21496510	G	C	18	23916546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58928457946778E-5	0.006
18	21496510	G	T	18	23916546	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58928457946778E-5	0.014
18	21496511	A	C	18	23916547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.32637783418528E-5	0.032
18	21496511	A	G	18	23916547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00127705082889773	0.024
18	21496511	A	T	18	23916547	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00183092901787401	0.074
18	21496512	C	A	18	23916548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99984992096872	0.92
18	21496512	C	G	18	23916548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99956724017305	0.786
18	21496512	C	T	18	23916548	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.556120624262024	0.454
18	21496513	A	C	18	23916549	y	y	splicing	LAMA3(NM_001127717:exon59:c.7611-2A>C;NM_198129:exon60:c.7779-2A>C;NM_001127718:exon22:c.2784-2A>C;NM_000227:exon23:c.2952-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7779-2A>C;ENST00000399516:exon59:c.7611-2A>C;ENST00000269217:exon23:c.2952-2A>C;ENST00000587184:exon22:c.2784-2A>C;ENST00000586751:exon20:c.2557-2A>C)	.	.	0.999968104623211	0.902
18	21496513	A	G	18	23916549	y	y	splicing	LAMA3(NM_001127717:exon59:c.7611-2A>G;NM_198129:exon60:c.7779-2A>G;NM_001127718:exon22:c.2784-2A>G;NM_000227:exon23:c.2952-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7779-2A>G;ENST00000399516:exon59:c.7611-2A>G;ENST00000269217:exon23:c.2952-2A>G;ENST00000587184:exon22:c.2784-2A>G;ENST00000586751:exon20:c.2557-2A>G)	.	.	0.999968104623211	0.902
18	21496513	A	T	18	23916549	y	y	splicing	LAMA3(NM_001127717:exon59:c.7611-2A>T;NM_198129:exon60:c.7779-2A>T;NM_001127718:exon22:c.2784-2A>T;NM_000227:exon23:c.2952-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7779-2A>T;ENST00000399516:exon59:c.7611-2A>T;ENST00000269217:exon23:c.2952-2A>T;ENST00000587184:exon22:c.2784-2A>T;ENST00000586751:exon20:c.2557-2A>T)	.	.	0.999968104623211	0.902
18	21496514	G	A	18	23916550	y	y	splicing	LAMA3(NM_001127717:exon59:c.7611-1G>A;NM_198129:exon60:c.7779-1G>A;NM_001127718:exon22:c.2784-1G>A;NM_000227:exon23:c.2952-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7779-1G>A;ENST00000399516:exon59:c.7611-1G>A;ENST00000269217:exon23:c.2952-1G>A;ENST00000587184:exon22:c.2784-1G>A;ENST00000586751:exon20:c.2557-1G>A)	.	.	0.999980303772886	0.91
18	21496514	G	C	18	23916550	y	y	splicing	LAMA3(NM_001127717:exon59:c.7611-1G>C;NM_198129:exon60:c.7779-1G>C;NM_001127718:exon22:c.2784-1G>C;NM_000227:exon23:c.2952-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7779-1G>C;ENST00000399516:exon59:c.7611-1G>C;ENST00000269217:exon23:c.2952-1G>C;ENST00000587184:exon22:c.2784-1G>C;ENST00000586751:exon20:c.2557-1G>C)	.	.	0.999980303772886	0.91
18	21496514	G	T	18	23916550	y	y	splicing	LAMA3(NM_001127717:exon59:c.7611-1G>T;NM_198129:exon60:c.7779-1G>T;NM_001127718:exon22:c.2784-1G>T;NM_000227:exon23:c.2952-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7779-1G>T;ENST00000399516:exon59:c.7611-1G>T;ENST00000269217:exon23:c.2952-1G>T;ENST00000587184:exon22:c.2784-1G>T;ENST00000586751:exon20:c.2557-1G>T)	.	.	0.999980303772886	0.91
18	21496515	G	A	18	23916551	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon60:c.G7779A:p.R2593R;LAMA3:NM_001127718:exon22:c.G2784A:p.R928R;LAMA3:NM_001127717:exon59:c.G7611A:p.R2537R;LAMA3:NM_000227:exon23:c.G2952A:p.R984R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G2952A:p.R984R;ENSG00000053747:ENST00000587184:exon22:c.G2784A:p.R928R;ENSG00000053747:ENST00000399516:exon59:c.G7611A:p.R2537R;ENSG00000053747:ENST00000313654:exon60:c.G7779A:p.R2593R;	0.99779590257945	0.624
18	21496515	G	C	18	23916551	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.G7779C:p.R2593S;LAMA3:NM_001127718:exon22:c.G2784C:p.R928S;LAMA3:NM_001127717:exon59:c.G7611C:p.R2537S;LAMA3:NM_000227:exon23:c.G2952C:p.R984S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G2952C:p.R984S;ENSG00000053747:ENST00000587184:exon22:c.G2784C:p.R928S;ENSG00000053747:ENST00000399516:exon59:c.G7611C:p.R2537S;ENSG00000053747:ENST00000313654:exon60:c.G7779C:p.R2593S;	0.99983638053896	0.942
18	21496515	G	T	18	23916551	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.G7779T:p.R2593S;LAMA3:NM_001127718:exon22:c.G2784T:p.R928S;LAMA3:NM_001127717:exon59:c.G7611T:p.R2537S;LAMA3:NM_000227:exon23:c.G2952T:p.R984S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G2952T:p.R984S;ENSG00000053747:ENST00000587184:exon22:c.G2784T:p.R928S;ENSG00000053747:ENST00000399516:exon59:c.G7611T:p.R2537S;ENSG00000053747:ENST00000313654:exon60:c.G7779T:p.R2593S;	0.999924031938307	0.992
18	21496516	A	C	18	23916552	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon60:c.A7780C:p.R2594R;LAMA3:NM_001127718:exon22:c.A2785C:p.R929R;LAMA3:NM_001127717:exon59:c.A7612C:p.R2538R;LAMA3:NM_000227:exon23:c.A2953C:p.R985R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.A2953C:p.R985R;ENSG00000053747:ENST00000587184:exon22:c.A2785C:p.R929R;ENSG00000053747:ENST00000399516:exon59:c.A7612C:p.R2538R;ENSG00000053747:ENST00000313654:exon60:c.A7780C:p.R2594R;	0.00444512795810174	0.086
18	21496516	A	G	18	23916552	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.A7780G:p.R2594G;LAMA3:NM_001127718:exon22:c.A2785G:p.R929G;LAMA3:NM_001127717:exon59:c.A7612G:p.R2538G;LAMA3:NM_000227:exon23:c.A2953G:p.R985G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.A2953G:p.R985G;ENSG00000053747:ENST00000587184:exon22:c.A2785G:p.R929G;ENSG00000053747:ENST00000399516:exon59:c.A7612G:p.R2538G;ENSG00000053747:ENST00000313654:exon60:c.A7780G:p.R2594G;	0.126444225393402	0.394
18	21496516	A	T	18	23916552	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.A7780T:p.R2594W;LAMA3:NM_001127718:exon22:c.A2785T:p.R929W;LAMA3:NM_001127717:exon59:c.A7612T:p.R2538W;LAMA3:NM_000227:exon23:c.A2953T:p.R985W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.A2953T:p.R985W;ENSG00000053747:ENST00000587184:exon22:c.A2785T:p.R929W;ENSG00000053747:ENST00000399516:exon59:c.A7612T:p.R2538W;ENSG00000053747:ENST00000313654:exon60:c.A7780T:p.R2594W;	0.902725510163099	0.74
18	21496657	G	A	18	23916693	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.G7921A:p.G2641R;LAMA3:NM_001127718:exon22:c.G2926A:p.G976R;LAMA3:NM_001127717:exon59:c.G7753A:p.G2585R;LAMA3:NM_000227:exon23:c.G3094A:p.G1032R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3094A:p.G1032R;ENSG00000053747:ENST00000587184:exon22:c.G2926A:p.G976R;ENSG00000053747:ENST00000399516:exon59:c.G7753A:p.G2585R;ENSG00000053747:ENST00000313654:exon60:c.G7921A:p.G2641R;	6.75504706950812E-6	0.0
18	21496657	G	C	18	23916693	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.G7921C:p.G2641R;LAMA3:NM_001127718:exon22:c.G2926C:p.G976R;LAMA3:NM_001127717:exon59:c.G7753C:p.G2585R;LAMA3:NM_000227:exon23:c.G3094C:p.G1032R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3094C:p.G1032R;ENSG00000053747:ENST00000587184:exon22:c.G2926C:p.G976R;ENSG00000053747:ENST00000399516:exon59:c.G7753C:p.G2585R;ENSG00000053747:ENST00000313654:exon60:c.G7921C:p.G2641R;	3.64089144722743E-6	0.024
18	21496657	G	T	18	23916693	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.G7921T:p.G2641W;LAMA3:NM_001127718:exon22:c.G2926T:p.G976W;LAMA3:NM_001127717:exon59:c.G7753T:p.G2585W;LAMA3:NM_000227:exon23:c.G3094T:p.G1032W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3094T:p.G1032W;ENSG00000053747:ENST00000587184:exon22:c.G2926T:p.G976W;ENSG00000053747:ENST00000399516:exon59:c.G7753T:p.G2585W;ENSG00000053747:ENST00000313654:exon60:c.G7921T:p.G2641W;	0.00682138563587065	0.22
18	21496658	G	A	18	23916694	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.G7922A:p.G2641E;LAMA3:NM_001127718:exon22:c.G2927A:p.G976E;LAMA3:NM_001127717:exon59:c.G7754A:p.G2585E;LAMA3:NM_000227:exon23:c.G3095A:p.G1032E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3095A:p.G1032E;ENSG00000053747:ENST00000587184:exon22:c.G2927A:p.G976E;ENSG00000053747:ENST00000399516:exon59:c.G7754A:p.G2585E;ENSG00000053747:ENST00000313654:exon60:c.G7922A:p.G2641E;	3.44995526600141E-5	0.066
18	21496658	G	C	18	23916694	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.G7922C:p.G2641A;LAMA3:NM_001127718:exon22:c.G2927C:p.G976A;LAMA3:NM_001127717:exon59:c.G7754C:p.G2585A;LAMA3:NM_000227:exon23:c.G3095C:p.G1032A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3095C:p.G1032A;ENSG00000053747:ENST00000587184:exon22:c.G2927C:p.G976A;ENSG00000053747:ENST00000399516:exon59:c.G7754C:p.G2585A;ENSG00000053747:ENST00000313654:exon60:c.G7922C:p.G2641A;	3.92739937806565E-5	0.012
18	21496658	G	T	18	23916694	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon60:c.G7922T:p.G2641V;LAMA3:NM_001127718:exon22:c.G2927T:p.G976V;LAMA3:NM_001127717:exon59:c.G7754T:p.G2585V;LAMA3:NM_000227:exon23:c.G3095T:p.G1032V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3095T:p.G1032V;ENSG00000053747:ENST00000587184:exon22:c.G2927T:p.G976V;ENSG00000053747:ENST00000399516:exon59:c.G7754T:p.G2585V;ENSG00000053747:ENST00000313654:exon60:c.G7922T:p.G2641V;	0.00208813225100713	0.234
18	21496659	G	A	18	23916695	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon60:c.G7923A:p.G2641G;LAMA3:NM_001127718:exon22:c.G2928A:p.G976G;LAMA3:NM_001127717:exon59:c.G7755A:p.G2585G;LAMA3:NM_000227:exon23:c.G3096A:p.G1032G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3096A:p.G1032G;ENSG00000053747:ENST00000587184:exon22:c.G2928A:p.G976G;ENSG00000053747:ENST00000399516:exon59:c.G7755A:p.G2585G;ENSG00000053747:ENST00000313654:exon60:c.G7923A:p.G2641G;	0.999921456184184	0.942
18	21496659	G	C	18	23916695	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon60:c.G7923C:p.G2641G;LAMA3:NM_001127718:exon22:c.G2928C:p.G976G;LAMA3:NM_001127717:exon59:c.G7755C:p.G2585G;LAMA3:NM_000227:exon23:c.G3096C:p.G1032G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3096C:p.G1032G;ENSG00000053747:ENST00000587184:exon22:c.G2928C:p.G976G;ENSG00000053747:ENST00000399516:exon59:c.G7755C:p.G2585G;ENSG00000053747:ENST00000313654:exon60:c.G7923C:p.G2641G;	0.999988251606796	0.946
18	21496659	G	T	18	23916695	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon60:c.G7923T:p.G2641G;LAMA3:NM_001127718:exon22:c.G2928T:p.G976G;LAMA3:NM_001127717:exon59:c.G7755T:p.G2585G;LAMA3:NM_000227:exon23:c.G3096T:p.G1032G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon23:c.G3096T:p.G1032G;ENSG00000053747:ENST00000587184:exon22:c.G2928T:p.G976G;ENSG00000053747:ENST00000399516:exon59:c.G7755T:p.G2585G;ENSG00000053747:ENST00000313654:exon60:c.G7923T:p.G2641G;	0.999917150797898	0.926
18	21496660	G	A	18	23916696	y	y	splicing	LAMA3(NM_001127717:exon59:c.7755+1G>A;NM_198129:exon60:c.7923+1G>A;NM_001127718:exon22:c.2928+1G>A;NM_000227:exon23:c.3096+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7923+1G>A;ENST00000399516:exon59:c.7755+1G>A;ENST00000269217:exon23:c.3096+1G>A;ENST00000587184:exon22:c.2928+1G>A;ENST00000586751:exon20:c.2701+1G>A)	.	.	0.999963173300375	0.94
18	21496660	G	C	18	23916696	y	y	splicing	LAMA3(NM_001127717:exon59:c.7755+1G>C;NM_198129:exon60:c.7923+1G>C;NM_001127718:exon22:c.2928+1G>C;NM_000227:exon23:c.3096+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7923+1G>C;ENST00000399516:exon59:c.7755+1G>C;ENST00000269217:exon23:c.3096+1G>C;ENST00000587184:exon22:c.2928+1G>C;ENST00000586751:exon20:c.2701+1G>C)	.	.	0.999961888732572	0.926
18	21496660	G	T	18	23916696	y	y	splicing	LAMA3(NM_001127717:exon59:c.7755+1G>T;NM_198129:exon60:c.7923+1G>T;NM_001127718:exon22:c.2928+1G>T;NM_000227:exon23:c.3096+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7923+1G>T;ENST00000399516:exon59:c.7755+1G>T;ENST00000269217:exon23:c.3096+1G>T;ENST00000587184:exon22:c.2928+1G>T;ENST00000586751:exon20:c.2701+1G>T)	.	.	0.999963173300375	0.94
18	21496661	T	A	18	23916697	y	y	splicing	LAMA3(NM_001127717:exon59:c.7755+2T>A;NM_198129:exon60:c.7923+2T>A;NM_001127718:exon22:c.2928+2T>A;NM_000227:exon23:c.3096+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7923+2T>A;ENST00000399516:exon59:c.7755+2T>A;ENST00000269217:exon23:c.3096+2T>A;ENST00000587184:exon22:c.2928+2T>A;ENST00000586751:exon20:c.2701+2T>A)	.	.	0.999960395825381	0.954
18	21496661	T	C	18	23916697	y	y	splicing	LAMA3(NM_001127717:exon59:c.7755+2T>C;NM_198129:exon60:c.7923+2T>C;NM_001127718:exon22:c.2928+2T>C;NM_000227:exon23:c.3096+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7923+2T>C;ENST00000399516:exon59:c.7755+2T>C;ENST00000269217:exon23:c.3096+2T>C;ENST00000587184:exon22:c.2928+2T>C;ENST00000586751:exon20:c.2701+2T>C)	.	.	0.999834466215237	0.878
18	21496661	T	G	18	23916697	y	y	splicing	LAMA3(NM_001127717:exon59:c.7755+2T>G;NM_198129:exon60:c.7923+2T>G;NM_001127718:exon22:c.2928+2T>G;NM_000227:exon23:c.3096+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon60:c.7923+2T>G;ENST00000399516:exon59:c.7755+2T>G;ENST00000269217:exon23:c.3096+2T>G;ENST00000587184:exon22:c.2928+2T>G;ENST00000586751:exon20:c.2701+2T>G)	.	.	0.999959014379261	0.932
18	21496662	A	C	18	23916698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999878109348321	0.882
18	21496662	A	G	18	23916698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999520614845243	0.79
18	21496662	A	T	18	23916698	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999878109348321	0.91
18	21496663	A	C	18	23916699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996681065921103	0.794
18	21496663	A	G	18	23916699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999417568527348	0.816
18	21496663	A	T	18	23916699	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.991274388363866	0.766
18	21496664	T	A	18	23916700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.55383577633885E-4	0.058
18	21496664	T	C	18	23916700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.36042802986921E-4	0.122
18	21496664	T	G	18	23916700	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.1528864574583E-5	0.008
18	21496665	C	A	18	23916701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.75052940248974E-5	0.016
18	21496665	C	G	18	23916701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.72696297594966E-5	0.072
18	21496665	C	T	18	23916701	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.64529669693571E-5	0.004
18	21496666	T	A	18	23916702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.7414271907318E-5	0.004
18	21496666	T	C	18	23916702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.7414271907318E-5	0.0
18	21496666	T	G	18	23916702	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.7414271907318E-5	0.0
18	21496667	A	C	18	23916703	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.05749642991224E-4	0.0
18	21496667	A	G	18	23916703	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.32209607515939E-4	0.014
18	21496667	A	T	18	23916703	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.12338873162005E-4	0.0
18	21500887	C	A	18	23920923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.57678797688134E-4	0.082
18	21500887	C	G	18	23920923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00111315217250309	0.08
18	21500887	C	T	18	23920923	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.94603574102872E-5	0.002
18	21500888	C	A	18	23920924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0385094699751464	0.302
18	21500888	C	G	18	23920924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00543063092751886	0.184
18	21500888	C	T	18	23920924	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.90580140799196E-4	0.014
18	21500889	T	A	18	23920925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.07042704849401E-4	0.064
18	21500889	T	C	18	23920925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.80411124606423E-4	0.002
18	21500889	T	G	18	23920925	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00323222429924127	0.094
18	21500890	C	A	18	23920926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.4047792070696E-4	0.024
18	21500890	C	G	18	23920926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.22855177305832E-4	0.052
18	21500890	C	T	18	23920926	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.48164956649291E-5	0.022
18	21500891	T	A	18	23920927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9998386346333	0.996
18	21500891	T	C	18	23920927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.48701834205345E-5	0.004
18	21500891	T	G	18	23920927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00301651918999279	0.098
18	21500892	G	A	18	23920928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.26764573512402E-4	0.0
18	21500892	G	C	18	23920928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.50652243262042E-5	0.006
18	21500892	G	T	18	23920928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.58645906776164E-5	0.0
18	21500893	T	A	18	23920929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.83192400564862E-4	0.074
18	21500893	T	C	18	23920929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.82656270762001E-5	0.0
18	21500893	T	G	18	23920929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.97260307038819E-4	0.09
18	21500894	C	A	18	23920930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.27844135648425E-4	0.02
18	21500894	C	G	18	23920930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.35112742075853E-4	0.034
18	21500894	C	T	18	23920930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.0291873933743E-5	0.0
18	21500895	C	A	18	23920931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.40149503600453E-4	0.01
18	21500895	C	G	18	23920931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.70758852386549E-5	0.0
18	21500895	C	T	18	23920931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.33050305344098E-5	0.0
18	21500896	T	A	18	23920932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00481596204548631	0.288
18	21500896	T	C	18	23920932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.50268045361169E-5	0.008
18	21500896	T	G	18	23920932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.282494355362304	0.546
18	21500897	A	C	18	23920933	y	y	splicing	LAMA3(NM_001127717:exon60:c.7756-2A>C;NM_198129:exon61:c.7924-2A>C;NM_001127718:exon23:c.2929-2A>C;NM_000227:exon24:c.3097-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.7924-2A>C;ENST00000399516:exon60:c.7756-2A>C;ENST00000269217:exon24:c.3097-2A>C;ENST00000587184:exon23:c.2929-2A>C;ENST00000586751:exon21:c.2702-2A>C)	.	.	0.999966203349492	0.932
18	21500897	A	G	18	23920933	y	y	splicing	LAMA3(NM_001127717:exon60:c.7756-2A>G;NM_198129:exon61:c.7924-2A>G;NM_001127718:exon23:c.2929-2A>G;NM_000227:exon24:c.3097-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.7924-2A>G;ENST00000399516:exon60:c.7756-2A>G;ENST00000269217:exon24:c.3097-2A>G;ENST00000587184:exon23:c.2929-2A>G;ENST00000586751:exon21:c.2702-2A>G)	.	.	0.999966203349492	0.932
18	21500897	A	T	18	23920933	y	y	splicing	LAMA3(NM_001127717:exon60:c.7756-2A>T;NM_198129:exon61:c.7924-2A>T;NM_001127718:exon23:c.2929-2A>T;NM_000227:exon24:c.3097-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.7924-2A>T;ENST00000399516:exon60:c.7756-2A>T;ENST00000269217:exon24:c.3097-2A>T;ENST00000587184:exon23:c.2929-2A>T;ENST00000586751:exon21:c.2702-2A>T)	.	.	0.999986903042585	0.93
18	21500898	G	A	18	23920934	y	y	splicing	LAMA3(NM_001127717:exon60:c.7756-1G>A;NM_198129:exon61:c.7924-1G>A;NM_001127718:exon23:c.2929-1G>A;NM_000227:exon24:c.3097-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.7924-1G>A;ENST00000399516:exon60:c.7756-1G>A;ENST00000269217:exon24:c.3097-1G>A;ENST00000587184:exon23:c.2929-1G>A;ENST00000586751:exon21:c.2702-1G>A)	.	.	0.999981760802075	0.946
18	21500898	G	C	18	23920934	y	y	splicing	LAMA3(NM_001127717:exon60:c.7756-1G>C;NM_198129:exon61:c.7924-1G>C;NM_001127718:exon23:c.2929-1G>C;NM_000227:exon24:c.3097-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.7924-1G>C;ENST00000399516:exon60:c.7756-1G>C;ENST00000269217:exon24:c.3097-1G>C;ENST00000587184:exon23:c.2929-1G>C;ENST00000586751:exon21:c.2702-1G>C)	.	.	0.999981760802075	0.946
18	21500898	G	T	18	23920934	y	y	splicing	LAMA3(NM_001127717:exon60:c.7756-1G>T;NM_198129:exon61:c.7924-1G>T;NM_001127718:exon23:c.2929-1G>T;NM_000227:exon24:c.3097-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.7924-1G>T;ENST00000399516:exon60:c.7756-1G>T;ENST00000269217:exon24:c.3097-1G>T;ENST00000587184:exon23:c.2929-1G>T;ENST00000586751:exon21:c.2702-1G>T)	.	.	0.999981760802075	0.946
18	21500899	G	A	18	23920935	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.G7924A:p.D2642N;LAMA3:NM_001127718:exon23:c.G2929A:p.D977N;LAMA3:NM_001127717:exon60:c.G7756A:p.D2586N;LAMA3:NM_000227:exon24:c.G3097A:p.D1033N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.G3097A:p.D1033N;ENSG00000053747:ENST00000587184:exon23:c.G2929A:p.D977N;ENSG00000053747:ENST00000399516:exon60:c.G7756A:p.D2586N;ENSG00000053747:ENST00000313654:exon61:c.G7924A:p.D2642N;	0.70079064772707	0.586
18	21500899	G	C	18	23920935	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.G7924C:p.D2642H;LAMA3:NM_001127718:exon23:c.G2929C:p.D977H;LAMA3:NM_001127717:exon60:c.G7756C:p.D2586H;LAMA3:NM_000227:exon24:c.G3097C:p.D1033H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.G3097C:p.D1033H;ENSG00000053747:ENST00000587184:exon23:c.G2929C:p.D977H;ENSG00000053747:ENST00000399516:exon60:c.G7756C:p.D2586H;ENSG00000053747:ENST00000313654:exon61:c.G7924C:p.D2642H;	0.995018112208597	0.912
18	21500899	G	T	18	23920935	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.G7924T:p.D2642Y;LAMA3:NM_001127718:exon23:c.G2929T:p.D977Y;LAMA3:NM_001127717:exon60:c.G7756T:p.D2586Y;LAMA3:NM_000227:exon24:c.G3097T:p.D1033Y;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.G3097T:p.D1033Y;ENSG00000053747:ENST00000587184:exon23:c.G2929T:p.D977Y;ENSG00000053747:ENST00000399516:exon60:c.G7756T:p.D2586Y;ENSG00000053747:ENST00000313654:exon61:c.G7924T:p.D2642Y;	0.997738399279175	0.942
18	21500900	A	C	18	23920936	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.A7925C:p.D2642A;LAMA3:NM_001127718:exon23:c.A2930C:p.D977A;LAMA3:NM_001127717:exon60:c.A7757C:p.D2586A;LAMA3:NM_000227:exon24:c.A3098C:p.D1033A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.A3098C:p.D1033A;ENSG00000053747:ENST00000587184:exon23:c.A2930C:p.D977A;ENSG00000053747:ENST00000399516:exon60:c.A7757C:p.D2586A;ENSG00000053747:ENST00000313654:exon61:c.A7925C:p.D2642A;	0.841265775038352	0.836
18	21500900	A	G	18	23920936	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.A7925G:p.D2642G;LAMA3:NM_001127718:exon23:c.A2930G:p.D977G;LAMA3:NM_001127717:exon60:c.A7757G:p.D2586G;LAMA3:NM_000227:exon24:c.A3098G:p.D1033G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.A3098G:p.D1033G;ENSG00000053747:ENST00000587184:exon23:c.A2930G:p.D977G;ENSG00000053747:ENST00000399516:exon60:c.A7757G:p.D2586G;ENSG00000053747:ENST00000313654:exon61:c.A7925G:p.D2642G;	0.815992513111804	0.706
18	21500900	A	T	18	23920936	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.A7925T:p.D2642V;LAMA3:NM_001127718:exon23:c.A2930T:p.D977V;LAMA3:NM_001127717:exon60:c.A7757T:p.D2586V;LAMA3:NM_000227:exon24:c.A3098T:p.D1033V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.A3098T:p.D1033V;ENSG00000053747:ENST00000587184:exon23:c.A2930T:p.D977V;ENSG00000053747:ENST00000399516:exon60:c.A7757T:p.D2586V;ENSG00000053747:ENST00000313654:exon61:c.A7925T:p.D2642V;	0.727421249765851	0.668
18	21501016	T	A	18	23921052	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.T8041A:p.S2681T;LAMA3:NM_001127718:exon23:c.T3046A:p.S1016T;LAMA3:NM_001127717:exon60:c.T7873A:p.S2625T;LAMA3:NM_000227:exon24:c.T3214A:p.S1072T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.T3214A:p.S1072T;ENSG00000053747:ENST00000587184:exon23:c.T3046A:p.S1016T;ENSG00000053747:ENST00000399516:exon60:c.T7873A:p.S2625T;ENSG00000053747:ENST00000313654:exon61:c.T8041A:p.S2681T;	7.64236774801816E-5	0.05
18	21501016	T	C	18	23921052	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.T8041C:p.S2681P;LAMA3:NM_001127718:exon23:c.T3046C:p.S1016P;LAMA3:NM_001127717:exon60:c.T7873C:p.S2625P;LAMA3:NM_000227:exon24:c.T3214C:p.S1072P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.T3214C:p.S1072P;ENSG00000053747:ENST00000587184:exon23:c.T3046C:p.S1016P;ENSG00000053747:ENST00000399516:exon60:c.T7873C:p.S2625P;ENSG00000053747:ENST00000313654:exon61:c.T8041C:p.S2681P;	1.14579328835037E-4	0.096
18	21501016	T	G	18	23921052	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.T8041G:p.S2681A;LAMA3:NM_001127718:exon23:c.T3046G:p.S1016A;LAMA3:NM_001127717:exon60:c.T7873G:p.S2625A;LAMA3:NM_000227:exon24:c.T3214G:p.S1072A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.T3214G:p.S1072A;ENSG00000053747:ENST00000587184:exon23:c.T3046G:p.S1016A;ENSG00000053747:ENST00000399516:exon60:c.T7873G:p.S2625A;ENSG00000053747:ENST00000313654:exon61:c.T8041G:p.S2681A;	3.1389581746798E-5	0.006
18	21501017	C	A	18	23921053	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon61:c.C8042A:p.S2681X;LAMA3:NM_001127718:exon23:c.C3047A:p.S1016X;LAMA3:NM_001127717:exon60:c.C7874A:p.S2625X;LAMA3:NM_000227:exon24:c.C3215A:p.S1072X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon24:c.C3215A:p.S1072X;ENSG00000053747:ENST00000587184:exon23:c.C3047A:p.S1016X;ENSG00000053747:ENST00000399516:exon60:c.C7874A:p.S2625X;ENSG00000053747:ENST00000313654:exon61:c.C8042A:p.S2681X;	1.43591056072872E-4	0.468
18	21501017	C	G	18	23921053	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.C8042G:p.S2681W;LAMA3:NM_001127718:exon23:c.C3047G:p.S1016W;LAMA3:NM_001127717:exon60:c.C7874G:p.S2625W;LAMA3:NM_000227:exon24:c.C3215G:p.S1072W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.C3215G:p.S1072W;ENSG00000053747:ENST00000587184:exon23:c.C3047G:p.S1016W;ENSG00000053747:ENST00000399516:exon60:c.C7874G:p.S2625W;ENSG00000053747:ENST00000313654:exon61:c.C8042G:p.S2681W;	0.0180048352378375	0.104
18	21501017	C	T	18	23921053	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon61:c.C8042T:p.S2681L;LAMA3:NM_001127718:exon23:c.C3047T:p.S1016L;LAMA3:NM_001127717:exon60:c.C7874T:p.S2625L;LAMA3:NM_000227:exon24:c.C3215T:p.S1072L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.C3215T:p.S1072L;ENSG00000053747:ENST00000587184:exon23:c.C3047T:p.S1016L;ENSG00000053747:ENST00000399516:exon60:c.C7874T:p.S2625L;ENSG00000053747:ENST00000313654:exon61:c.C8042T:p.S2681L;	0.0168153667886527	0.038
18	21501018	G	A	18	23921054	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon61:c.G8043A:p.S2681S;LAMA3:NM_001127718:exon23:c.G3048A:p.S1016S;LAMA3:NM_001127717:exon60:c.G7875A:p.S2625S;LAMA3:NM_000227:exon24:c.G3216A:p.S1072S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.G3216A:p.S1072S;ENSG00000053747:ENST00000587184:exon23:c.G3048A:p.S1016S;ENSG00000053747:ENST00000399516:exon60:c.G7875A:p.S2625S;ENSG00000053747:ENST00000313654:exon61:c.G8043A:p.S2681S;	0.999833938458589	0.968
18	21501018	G	C	18	23921054	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon61:c.G8043C:p.S2681S;LAMA3:NM_001127718:exon23:c.G3048C:p.S1016S;LAMA3:NM_001127717:exon60:c.G7875C:p.S2625S;LAMA3:NM_000227:exon24:c.G3216C:p.S1072S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.G3216C:p.S1072S;ENSG00000053747:ENST00000587184:exon23:c.G3048C:p.S1016S;ENSG00000053747:ENST00000399516:exon60:c.G7875C:p.S2625S;ENSG00000053747:ENST00000313654:exon61:c.G8043C:p.S2681S;	0.999977803535519	0.962
18	21501018	G	T	18	23921054	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon61:c.G8043T:p.S2681S;LAMA3:NM_001127718:exon23:c.G3048T:p.S1016S;LAMA3:NM_001127717:exon60:c.G7875T:p.S2625S;LAMA3:NM_000227:exon24:c.G3216T:p.S1072S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon24:c.G3216T:p.S1072S;ENSG00000053747:ENST00000587184:exon23:c.G3048T:p.S1016S;ENSG00000053747:ENST00000399516:exon60:c.G7875T:p.S2625S;ENSG00000053747:ENST00000313654:exon61:c.G8043T:p.S2681S;	0.99993877722354	0.972
18	21501019	G	A	18	23921055	y	y	splicing	LAMA3(NM_001127717:exon60:c.7875+1G>A;NM_198129:exon61:c.8043+1G>A;NM_001127718:exon23:c.3048+1G>A;NM_000227:exon24:c.3216+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.8043+1G>A;ENST00000399516:exon60:c.7875+1G>A;ENST00000269217:exon24:c.3216+1G>A;ENST00000587184:exon23:c.3048+1G>A;ENST00000586751:exon21:c.2821+1G>A)	.	.	0.999929829014612	0.914
18	21501019	G	C	18	23921055	y	y	splicing	LAMA3(NM_001127717:exon60:c.7875+1G>C;NM_198129:exon61:c.8043+1G>C;NM_001127718:exon23:c.3048+1G>C;NM_000227:exon24:c.3216+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.8043+1G>C;ENST00000399516:exon60:c.7875+1G>C;ENST00000269217:exon24:c.3216+1G>C;ENST00000587184:exon23:c.3048+1G>C;ENST00000586751:exon21:c.2821+1G>C)	.	.	0.999929829014612	0.92
18	21501019	G	T	18	23921055	y	y	splicing	LAMA3(NM_001127717:exon60:c.7875+1G>T;NM_198129:exon61:c.8043+1G>T;NM_001127718:exon23:c.3048+1G>T;NM_000227:exon24:c.3216+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.8043+1G>T;ENST00000399516:exon60:c.7875+1G>T;ENST00000269217:exon24:c.3216+1G>T;ENST00000587184:exon23:c.3048+1G>T;ENST00000586751:exon21:c.2821+1G>T)	.	.	0.999929829014612	0.92
18	21501020	T	A	18	23921056	y	y	splicing	LAMA3(NM_001127717:exon60:c.7875+2T>A;NM_198129:exon61:c.8043+2T>A;NM_001127718:exon23:c.3048+2T>A;NM_000227:exon24:c.3216+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.8043+2T>A;ENST00000399516:exon60:c.7875+2T>A;ENST00000269217:exon24:c.3216+2T>A;ENST00000587184:exon23:c.3048+2T>A;ENST00000586751:exon21:c.2821+2T>A)	.	.	0.999971864448174	0.912
18	21501020	T	C	18	23921056	y	y	splicing	LAMA3(NM_001127717:exon60:c.7875+2T>C;NM_198129:exon61:c.8043+2T>C;NM_001127718:exon23:c.3048+2T>C;NM_000227:exon24:c.3216+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.8043+2T>C;ENST00000399516:exon60:c.7875+2T>C;ENST00000269217:exon24:c.3216+2T>C;ENST00000587184:exon23:c.3048+2T>C;ENST00000586751:exon21:c.2821+2T>C)	.	.	0.999355642911275	0.878
18	21501020	T	G	18	23921056	y	y	splicing	LAMA3(NM_001127717:exon60:c.7875+2T>G;NM_198129:exon61:c.8043+2T>G;NM_001127718:exon23:c.3048+2T>G;NM_000227:exon24:c.3216+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon61:c.8043+2T>G;ENST00000399516:exon60:c.7875+2T>G;ENST00000269217:exon24:c.3216+2T>G;ENST00000587184:exon23:c.3048+2T>G;ENST00000586751:exon21:c.2821+2T>G)	.	.	0.999971864448174	0.916
18	21501021	A	C	18	23921057	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999966626295092	0.956
18	21501021	A	G	18	23921057	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99936556686308	0.804
18	21501021	A	T	18	23921057	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999966122674263	0.958
18	21501022	C	A	18	23921058	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.30871649888854E-5	0.012
18	21501022	C	G	18	23921058	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.47065335595227E-4	0.062
18	21501022	C	T	18	23921058	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.1526032009129E-5	0.044
18	21501023	A	C	18	23921059	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.63656481983771E-5	0.044
18	21501023	A	G	18	23921059	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.64020027839555E-5	0.002
18	21501023	A	T	18	23921059	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.05646790370442E-5	0.03
18	21501024	C	A	18	23921060	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.41404345764483E-5	0.002
18	21501024	C	G	18	23921060	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.75282739269865E-5	0.012
18	21501024	C	T	18	23921060	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.44567246961622E-5	0.0
18	21501025	C	A	18	23921061	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.54714845287009E-4	0.002
18	21501025	C	G	18	23921061	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.54714845287009E-4	0.008
18	21501025	C	T	18	23921061	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.54714845287009E-4	0.012
18	21501026	T	A	18	23921062	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.63421036176296E-4	0.008
18	21501026	T	C	18	23921062	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81104709051921E-5	0.0
18	21501026	T	G	18	23921062	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.63421036176296E-4	0.014
18	21501404	C	A	18	23921440	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.86382558430073E-4	0.136
18	21501404	C	G	18	23921440	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.56491715195981E-4	0.068
18	21501404	C	T	18	23921440	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.82648420558015E-4	0.098
18	21501405	A	C	18	23921441	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.066613601568E-5	0.076
18	21501405	A	G	18	23921441	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.00084466838103E-6	0.038
18	21501405	A	T	18	23921441	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.90908486172355E-5	0.15
18	21501406	T	A	18	23921442	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997767003656459	0.878
18	21501406	T	C	18	23921442	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.143029568501945	0.38
18	21501406	T	G	18	23921442	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999970418454001	0.944
18	21501407	T	A	18	23921443	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.225785419935284	0.328
18	21501407	T	C	18	23921443	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.40824862137268E-4	0.008
18	21501407	T	G	18	23921443	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.161930508122537	0.344
18	21501408	T	A	18	23921444	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0616207950164117	0.248
18	21501408	T	C	18	23921444	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.34486777762834E-5	0.002
18	21501408	T	G	18	23921444	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00730057252923744	0.264
18	21501409	A	C	18	23921445	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.98992593528759E-5	0.006
18	21501409	A	G	18	23921445	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.69272657281751E-4	0.006
18	21501409	A	T	18	23921445	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.69998088136974E-5	0.014
18	21501410	T	A	18	23921446	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.415050356000742	0.726
18	21501410	T	C	18	23921446	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00405846133017551	0.046
18	21501410	T	G	18	23921446	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999904450799741	0.972
18	21501411	T	A	18	23921447	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.80774039212917	0.686
18	21501411	T	C	18	23921447	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00400680422702939	0.088
18	21501411	T	G	18	23921447	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.715216287600776	0.634
18	21501412	T	A	18	23921448	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.04573048717506E-4	0.062
18	21501412	T	C	18	23921448	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.74597246257173E-4	0.026
18	21501412	T	G	18	23921448	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38104099334363E-4	0.002
18	21501413	C	A	18	23921449	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.449530281363031	0.494
18	21501413	C	G	18	23921449	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.987517565971952	0.88
18	21501413	C	T	18	23921449	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00376609090451179	0.036
18	21501414	A	C	18	23921450	y	y	splicing	LAMA3(NM_001127717:exon61:c.7876-2A>C;NM_198129:exon62:c.8044-2A>C;NM_001127718:exon24:c.3049-2A>C;NM_000227:exon25:c.3217-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8044-2A>C;ENST00000399516:exon61:c.7876-2A>C;ENST00000269217:exon25:c.3217-2A>C;ENST00000587184:exon24:c.3049-2A>C;ENST00000586751:exon22:c.2822-2A>C)	.	.	0.999988247793601	0.93
18	21501414	A	G	18	23921450	y	y	splicing	LAMA3(NM_001127717:exon61:c.7876-2A>G;NM_198129:exon62:c.8044-2A>G;NM_001127718:exon24:c.3049-2A>G;NM_000227:exon25:c.3217-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8044-2A>G;ENST00000399516:exon61:c.7876-2A>G;ENST00000269217:exon25:c.3217-2A>G;ENST00000587184:exon24:c.3049-2A>G;ENST00000586751:exon22:c.2822-2A>G)	.	.	0.999988247793601	0.93
18	21501414	A	T	18	23921450	y	y	splicing	LAMA3(NM_001127717:exon61:c.7876-2A>T;NM_198129:exon62:c.8044-2A>T;NM_001127718:exon24:c.3049-2A>T;NM_000227:exon25:c.3217-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8044-2A>T;ENST00000399516:exon61:c.7876-2A>T;ENST00000269217:exon25:c.3217-2A>T;ENST00000587184:exon24:c.3049-2A>T;ENST00000586751:exon22:c.2822-2A>T)	.	.	0.999988247793601	0.93
18	21501415	G	A	18	23921451	y	y	splicing	LAMA3(NM_001127717:exon61:c.7876-1G>A;NM_198129:exon62:c.8044-1G>A;NM_001127718:exon24:c.3049-1G>A;NM_000227:exon25:c.3217-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8044-1G>A;ENST00000399516:exon61:c.7876-1G>A;ENST00000269217:exon25:c.3217-1G>A;ENST00000587184:exon24:c.3049-1G>A;ENST00000586751:exon22:c.2822-1G>A)	.	.	0.999990361384395	0.938
18	21501415	G	C	18	23921451	y	y	splicing	LAMA3(NM_001127717:exon61:c.7876-1G>C;NM_198129:exon62:c.8044-1G>C;NM_001127718:exon24:c.3049-1G>C;NM_000227:exon25:c.3217-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8044-1G>C;ENST00000399516:exon61:c.7876-1G>C;ENST00000269217:exon25:c.3217-1G>C;ENST00000587184:exon24:c.3049-1G>C;ENST00000586751:exon22:c.2822-1G>C)	.	.	0.999990361384395	0.938
18	21501415	G	T	18	23921451	y	y	splicing	LAMA3(NM_001127717:exon61:c.7876-1G>T;NM_198129:exon62:c.8044-1G>T;NM_001127718:exon24:c.3049-1G>T;NM_000227:exon25:c.3217-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8044-1G>T;ENST00000399516:exon61:c.7876-1G>T;ENST00000269217:exon25:c.3217-1G>T;ENST00000587184:exon24:c.3049-1G>T;ENST00000586751:exon22:c.2822-1G>T)	.	.	0.999990361384395	0.938
18	21501416	A	C	18	23921452	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.A8044C:p.I2682L;LAMA3:NM_001127718:exon24:c.A3049C:p.I1017L;LAMA3:NM_001127717:exon61:c.A7876C:p.I2626L;LAMA3:NM_000227:exon25:c.A3217C:p.I1073L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.A3217C:p.I1073L;ENSG00000053747:ENST00000587184:exon24:c.A3049C:p.I1017L;ENSG00000053747:ENST00000399516:exon61:c.A7876C:p.I2626L;ENSG00000053747:ENST00000313654:exon62:c.A8044C:p.I2682L;	1.45197910563007E-4	0.22
18	21501416	A	G	18	23921452	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.A8044G:p.I2682V;LAMA3:NM_001127718:exon24:c.A3049G:p.I1017V;LAMA3:NM_001127717:exon61:c.A7876G:p.I2626V;LAMA3:NM_000227:exon25:c.A3217G:p.I1073V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.A3217G:p.I1073V;ENSG00000053747:ENST00000587184:exon24:c.A3049G:p.I1017V;ENSG00000053747:ENST00000399516:exon61:c.A7876G:p.I2626V;ENSG00000053747:ENST00000313654:exon62:c.A8044G:p.I2682V;	6.31951362627227E-5	0.002
18	21501416	A	T	18	23921452	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.A8044T:p.I2682F;LAMA3:NM_001127718:exon24:c.A3049T:p.I1017F;LAMA3:NM_001127717:exon61:c.A7876T:p.I2626F;LAMA3:NM_000227:exon25:c.A3217T:p.I1073F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.A3217T:p.I1073F;ENSG00000053747:ENST00000587184:exon24:c.A3049T:p.I1017F;ENSG00000053747:ENST00000399516:exon61:c.A7876T:p.I2626F;ENSG00000053747:ENST00000313654:exon62:c.A8044T:p.I2682F;	1.52123107843174E-4	0.136
18	21501417	T	A	18	23921453	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.T8045A:p.I2682N;LAMA3:NM_001127718:exon24:c.T3050A:p.I1017N;LAMA3:NM_001127717:exon61:c.T7877A:p.I2626N;LAMA3:NM_000227:exon25:c.T3218A:p.I1073N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.T3218A:p.I1073N;ENSG00000053747:ENST00000587184:exon24:c.T3050A:p.I1017N;ENSG00000053747:ENST00000399516:exon61:c.T7877A:p.I2626N;ENSG00000053747:ENST00000313654:exon62:c.T8045A:p.I2682N;	0.678893318592843	0.406
18	21501417	T	C	18	23921453	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.T8045C:p.I2682T;LAMA3:NM_001127718:exon24:c.T3050C:p.I1017T;LAMA3:NM_001127717:exon61:c.T7877C:p.I2626T;LAMA3:NM_000227:exon25:c.T3218C:p.I1073T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.T3218C:p.I1073T;ENSG00000053747:ENST00000587184:exon24:c.T3050C:p.I1017T;ENSG00000053747:ENST00000399516:exon61:c.T7877C:p.I2626T;ENSG00000053747:ENST00000313654:exon62:c.T8045C:p.I2682T;	0.674029968435004	0.472
18	21501417	T	G	18	23921453	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.T8045G:p.I2682S;LAMA3:NM_001127718:exon24:c.T3050G:p.I1017S;LAMA3:NM_001127717:exon61:c.T7877G:p.I2626S;LAMA3:NM_000227:exon25:c.T3218G:p.I1073S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.T3218G:p.I1073S;ENSG00000053747:ENST00000587184:exon24:c.T3050G:p.I1017S;ENSG00000053747:ENST00000399516:exon61:c.T7877G:p.I2626S;ENSG00000053747:ENST00000313654:exon62:c.T8045G:p.I2682S;	0.639217099330876	0.456
18	21501547	A	C	18	23921583	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.A8175C:p.E2725D;LAMA3:NM_001127718:exon24:c.A3180C:p.E1060D;LAMA3:NM_001127717:exon61:c.A8007C:p.E2669D;LAMA3:NM_000227:exon25:c.A3348C:p.E1116D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.A3348C:p.E1116D;ENSG00000053747:ENST00000587184:exon24:c.A3180C:p.E1060D;ENSG00000053747:ENST00000399516:exon61:c.A8007C:p.E2669D;ENSG00000053747:ENST00000313654:exon62:c.A8175C:p.E2725D;	0.00208728678870532	0.044
18	21501547	A	G	18	23921583	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon62:c.A8175G:p.E2725E;LAMA3:NM_001127718:exon24:c.A3180G:p.E1060E;LAMA3:NM_001127717:exon61:c.A8007G:p.E2669E;LAMA3:NM_000227:exon25:c.A3348G:p.E1116E;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.A3348G:p.E1116E;ENSG00000053747:ENST00000587184:exon24:c.A3180G:p.E1060E;ENSG00000053747:ENST00000399516:exon61:c.A8007G:p.E2669E;ENSG00000053747:ENST00000313654:exon62:c.A8175G:p.E2725E;	4.99508690398051E-4	0.02
18	21501547	A	T	18	23921583	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.A8175T:p.E2725D;LAMA3:NM_001127718:exon24:c.A3180T:p.E1060D;LAMA3:NM_001127717:exon61:c.A8007T:p.E2669D;LAMA3:NM_000227:exon25:c.A3348T:p.E1116D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.A3348T:p.E1116D;ENSG00000053747:ENST00000587184:exon24:c.A3180T:p.E1060D;ENSG00000053747:ENST00000399516:exon61:c.A8007T:p.E2669D;ENSG00000053747:ENST00000313654:exon62:c.A8175T:p.E2725D;	0.159080600506669	0.266
18	21501548	A	C	18	23921584	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon62:c.A8176C:p.R2726R;LAMA3:NM_001127718:exon24:c.A3181C:p.R1061R;LAMA3:NM_001127717:exon61:c.A8008C:p.R2670R;LAMA3:NM_000227:exon25:c.A3349C:p.R1117R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.A3349C:p.R1117R;ENSG00000053747:ENST00000587184:exon24:c.A3181C:p.R1061R;ENSG00000053747:ENST00000399516:exon61:c.A8008C:p.R2670R;ENSG00000053747:ENST00000313654:exon62:c.A8176C:p.R2726R;	0.793560740832461	0.67
18	21501548	A	G	18	23921584	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.A8176G:p.R2726G;LAMA3:NM_001127718:exon24:c.A3181G:p.R1061G;LAMA3:NM_001127717:exon61:c.A8008G:p.R2670G;LAMA3:NM_000227:exon25:c.A3349G:p.R1117G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.A3349G:p.R1117G;ENSG00000053747:ENST00000587184:exon24:c.A3181G:p.R1061G;ENSG00000053747:ENST00000399516:exon61:c.A8008G:p.R2670G;ENSG00000053747:ENST00000313654:exon62:c.A8176G:p.R2726G;	0.998633375514003	0.98
18	21501548	A	T	18	23921584	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon62:c.A8176T:p.R2726X;LAMA3:NM_001127718:exon24:c.A3181T:p.R1061X;LAMA3:NM_001127717:exon61:c.A8008T:p.R2670X;LAMA3:NM_000227:exon25:c.A3349T:p.R1117X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon25:c.A3349T:p.R1117X;ENSG00000053747:ENST00000587184:exon24:c.A3181T:p.R1061X;ENSG00000053747:ENST00000399516:exon61:c.A8008T:p.R2670X;ENSG00000053747:ENST00000313654:exon62:c.A8176T:p.R2726X;	0.995643498793077	0.826
18	21501549	G	A	18	23921585	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.G8177A:p.R2726K;LAMA3:NM_001127718:exon24:c.G3182A:p.R1061K;LAMA3:NM_001127717:exon61:c.G8009A:p.R2670K;LAMA3:NM_000227:exon25:c.G3350A:p.R1117K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.G3350A:p.R1117K;ENSG00000053747:ENST00000587184:exon24:c.G3182A:p.R1061K;ENSG00000053747:ENST00000399516:exon61:c.G8009A:p.R2670K;ENSG00000053747:ENST00000313654:exon62:c.G8177A:p.R2726K;	0.999700993771064	0.91
18	21501549	G	C	18	23921585	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.G8177C:p.R2726T;LAMA3:NM_001127718:exon24:c.G3182C:p.R1061T;LAMA3:NM_001127717:exon61:c.G8009C:p.R2670T;LAMA3:NM_000227:exon25:c.G3350C:p.R1117T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.G3350C:p.R1117T;ENSG00000053747:ENST00000587184:exon24:c.G3182C:p.R1061T;ENSG00000053747:ENST00000399516:exon61:c.G8009C:p.R2670T;ENSG00000053747:ENST00000313654:exon62:c.G8177C:p.R2726T;	0.999951680852716	0.936
18	21501549	G	T	18	23921585	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon62:c.G8177T:p.R2726I;LAMA3:NM_001127718:exon24:c.G3182T:p.R1061I;LAMA3:NM_001127717:exon61:c.G8009T:p.R2670I;LAMA3:NM_000227:exon25:c.G3350T:p.R1117I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon25:c.G3350T:p.R1117I;ENSG00000053747:ENST00000587184:exon24:c.G3182T:p.R1061I;ENSG00000053747:ENST00000399516:exon61:c.G8009T:p.R2670I;ENSG00000053747:ENST00000313654:exon62:c.G8177T:p.R2726I;	0.999950321179732	0.956
18	21501550	G	A	18	23921586	y	y	splicing	LAMA3(NM_001127717:exon61:c.8009+1G>A;NM_198129:exon62:c.8177+1G>A;NM_001127718:exon24:c.3182+1G>A;NM_000227:exon25:c.3350+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8177+1G>A;ENST00000399516:exon61:c.8009+1G>A;ENST00000269217:exon25:c.3350+1G>A;ENST00000587184:exon24:c.3182+1G>A;ENST00000586751:exon22:c.2955+1G>A)	.	.	0.999990361384395	0.938
18	21501550	G	C	18	23921586	y	y	splicing	LAMA3(NM_001127717:exon61:c.8009+1G>C;NM_198129:exon62:c.8177+1G>C;NM_001127718:exon24:c.3182+1G>C;NM_000227:exon25:c.3350+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8177+1G>C;ENST00000399516:exon61:c.8009+1G>C;ENST00000269217:exon25:c.3350+1G>C;ENST00000587184:exon24:c.3182+1G>C;ENST00000586751:exon22:c.2955+1G>C)	.	.	0.999990361384395	0.938
18	21501550	G	T	18	23921586	y	y	splicing	LAMA3(NM_001127717:exon61:c.8009+1G>T;NM_198129:exon62:c.8177+1G>T;NM_001127718:exon24:c.3182+1G>T;NM_000227:exon25:c.3350+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8177+1G>T;ENST00000399516:exon61:c.8009+1G>T;ENST00000269217:exon25:c.3350+1G>T;ENST00000587184:exon24:c.3182+1G>T;ENST00000586751:exon22:c.2955+1G>T)	.	.	0.999990361384395	0.938
18	21501551	T	A	18	23921587	y	y	splicing	LAMA3(NM_001127717:exon61:c.8009+2T>A;NM_198129:exon62:c.8177+2T>A;NM_001127718:exon24:c.3182+2T>A;NM_000227:exon25:c.3350+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8177+2T>A;ENST00000399516:exon61:c.8009+2T>A;ENST00000269217:exon25:c.3350+2T>A;ENST00000587184:exon24:c.3182+2T>A;ENST00000586751:exon22:c.2955+2T>A)	.	.	0.999988247793601	0.93
18	21501551	T	C	18	23921587	y	y	splicing	LAMA3(NM_001127717:exon61:c.8009+2T>C;NM_198129:exon62:c.8177+2T>C;NM_001127718:exon24:c.3182+2T>C;NM_000227:exon25:c.3350+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8177+2T>C;ENST00000399516:exon61:c.8009+2T>C;ENST00000269217:exon25:c.3350+2T>C;ENST00000587184:exon24:c.3182+2T>C;ENST00000586751:exon22:c.2955+2T>C)	.	.	0.99340600729494	0.694
18	21501551	T	G	18	23921587	y	y	splicing	LAMA3(NM_001127717:exon61:c.8009+2T>G;NM_198129:exon62:c.8177+2T>G;NM_001127718:exon24:c.3182+2T>G;NM_000227:exon25:c.3350+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon62:c.8177+2T>G;ENST00000399516:exon61:c.8009+2T>G;ENST00000269217:exon25:c.3350+2T>G;ENST00000587184:exon24:c.3182+2T>G;ENST00000586751:exon22:c.2955+2T>G)	.	.	0.999988247793601	0.93
18	21501552	A	C	18	23921588	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.987841188952018	0.728
18	21501552	A	G	18	23921588	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0213732319809624	0.318
18	21501552	A	T	18	23921588	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.978775692966333	0.656
18	21501553	A	C	18	23921589	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.988635377299631	0.794
18	21501553	A	G	18	23921589	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995538680663672	0.83
18	21501553	A	T	18	23921589	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.995807051155672	0.848
18	21501554	G	A	18	23921590	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997066917298102	0.692
18	21501554	G	C	18	23921590	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.981698887376312	0.734
18	21501554	G	T	18	23921590	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992036973567926	0.584
18	21501555	A	C	18	23921591	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.54422412207639E-4	0.012
18	21501555	A	G	18	23921591	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.47460381659358E-5	0.0
18	21501555	A	T	18	23921591	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.17378105025612E-5	0.012
18	21501556	T	A	18	23921592	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.25858268668538E-4	0.01
18	21501556	T	C	18	23921592	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.48105247121029E-4	0.018
18	21501556	T	G	18	23921592	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.61961510010392E-4	0.014
18	21501557	G	A	18	23921593	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.52239311931335E-4	0.006
18	21501557	G	C	18	23921593	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.12147405761732E-5	0.0
18	21501557	G	T	18	23921593	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.54852398219204E-4	0.016
18	21508075	G	A	18	23928111	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81645571069786E-5	0.0
18	21508075	G	C	18	23928111	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33684777350849E-5	0.0
18	21508075	G	T	18	23928111	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.26282657477284E-5	0.0
18	21508076	T	A	18	23928112	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.560059875463578	0.546
18	21508076	T	C	18	23928112	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00208700735983756	0.09
18	21508076	T	G	18	23928112	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.11747760115818	0.54
18	21508077	T	A	18	23928113	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.906025375643505	0.566
18	21508077	T	C	18	23928113	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00138153723551118	0.22
18	21508077	T	G	18	23928113	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0180580685644317	0.518
18	21508078	C	A	18	23928114	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999794639962449	0.99
18	21508078	C	G	18	23928114	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00819508666035152	0.124
18	21508078	C	T	18	23928114	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.64132712566041E-5	0.004
18	21508079	G	A	18	23928115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.43783909257988E-4	0.036
18	21508079	G	C	18	23928115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.42954537825878E-5	0.0
18	21508079	G	T	18	23928115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.42954537825878E-5	0.042
18	21508080	T	A	18	23928116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0178861565119573	0.232
18	21508080	T	C	18	23928116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.54448206381712E-5	0.032
18	21508080	T	G	18	23928116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0110089580335916	0.16
18	21508081	A	C	18	23928117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.21770450045607E-5	0.0
18	21508081	A	G	18	23928117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.08843649286146E-5	0.0
18	21508081	A	T	18	23928117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.89638834748964E-5	0.002
18	21508082	A	C	18	23928118	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.55382901075306E-5	0.004
18	21508082	A	G	18	23928118	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999511738256993	0.98
18	21508082	A	T	18	23928118	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.01777517866629E-4	0.008
18	21508083	T	A	18	23928119	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.17191058021879E-4	0.032
18	21508083	T	C	18	23928119	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.84100947051273E-4	0.164
18	21508083	T	G	18	23928119	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.693030616812311	0.596
18	21508084	C	A	18	23928120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996646067079647	0.884
18	21508084	C	G	18	23928120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999899572208178	0.872
18	21508084	C	T	18	23928120	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0403320023319028	0.14
18	21508085	A	C	18	23928121	y	y	splicing	LAMA3(NM_001127717:exon62:c.8010-2A>C;NM_198129:exon63:c.8178-2A>C;NM_001127718:exon25:c.3183-2A>C;NM_000227:exon26:c.3351-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8178-2A>C;ENST00000399516:exon62:c.8010-2A>C;ENST00000269217:exon26:c.3351-2A>C;ENST00000587184:exon25:c.3183-2A>C;ENST00000586751:exon23:c.2956-2A>C)	.	.	0.999986741007567	0.938
18	21508085	A	G	18	23928121	y	y	splicing	LAMA3(NM_001127717:exon62:c.8010-2A>G;NM_198129:exon63:c.8178-2A>G;NM_001127718:exon25:c.3183-2A>G;NM_000227:exon26:c.3351-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8178-2A>G;ENST00000399516:exon62:c.8010-2A>G;ENST00000269217:exon26:c.3351-2A>G;ENST00000587184:exon25:c.3183-2A>G;ENST00000586751:exon23:c.2956-2A>G)	.	.	0.999986741007567	0.938
18	21508085	A	T	18	23928121	y	y	splicing	LAMA3(NM_001127717:exon62:c.8010-2A>T;NM_198129:exon63:c.8178-2A>T;NM_001127718:exon25:c.3183-2A>T;NM_000227:exon26:c.3351-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8178-2A>T;ENST00000399516:exon62:c.8010-2A>T;ENST00000269217:exon26:c.3351-2A>T;ENST00000587184:exon25:c.3183-2A>T;ENST00000586751:exon23:c.2956-2A>T)	.	.	0.999986741007567	0.938
18	21508086	G	A	18	23928122	y	y	splicing	LAMA3(NM_001127717:exon62:c.8010-1G>A;NM_198129:exon63:c.8178-1G>A;NM_001127718:exon25:c.3183-1G>A;NM_000227:exon26:c.3351-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8178-1G>A;ENST00000399516:exon62:c.8010-1G>A;ENST00000269217:exon26:c.3351-1G>A;ENST00000587184:exon25:c.3183-1G>A;ENST00000586751:exon23:c.2956-1G>A)	.	.	0.999987670894945	0.938
18	21508086	G	C	18	23928122	y	y	splicing	LAMA3(NM_001127717:exon62:c.8010-1G>C;NM_198129:exon63:c.8178-1G>C;NM_001127718:exon25:c.3183-1G>C;NM_000227:exon26:c.3351-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8178-1G>C;ENST00000399516:exon62:c.8010-1G>C;ENST00000269217:exon26:c.3351-1G>C;ENST00000587184:exon25:c.3183-1G>C;ENST00000586751:exon23:c.2956-1G>C)	.	.	0.999987670894945	0.94
18	21508086	G	T	18	23928122	y	y	splicing	LAMA3(NM_001127717:exon62:c.8010-1G>T;NM_198129:exon63:c.8178-1G>T;NM_001127718:exon25:c.3183-1G>T;NM_000227:exon26:c.3351-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8178-1G>T;ENST00000399516:exon62:c.8010-1G>T;ENST00000269217:exon26:c.3351-1G>T;ENST00000587184:exon25:c.3183-1G>T;ENST00000586751:exon23:c.2956-1G>T)	.	.	0.999987670894945	0.94
18	21508087	A	C	18	23928123	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.A8178C:p.R2726S;LAMA3:NM_001127718:exon25:c.A3183C:p.R1061S;LAMA3:NM_001127717:exon62:c.A8010C:p.R2670S;LAMA3:NM_000227:exon26:c.A3351C:p.R1117S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.A3351C:p.R1117S;ENSG00000053747:ENST00000587184:exon25:c.A3183C:p.R1061S;ENSG00000053747:ENST00000399516:exon62:c.A8010C:p.R2670S;ENSG00000053747:ENST00000313654:exon63:c.A8178C:p.R2726S;	3.75517261565309E-4	0.216
18	21508087	A	G	18	23928123	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon63:c.A8178G:p.R2726R;LAMA3:NM_001127718:exon25:c.A3183G:p.R1061R;LAMA3:NM_001127717:exon62:c.A8010G:p.R2670R;LAMA3:NM_000227:exon26:c.A3351G:p.R1117R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.A3351G:p.R1117R;ENSG00000053747:ENST00000587184:exon25:c.A3183G:p.R1061R;ENSG00000053747:ENST00000399516:exon62:c.A8010G:p.R2670R;ENSG00000053747:ENST00000313654:exon63:c.A8178G:p.R2726R;	2.17962026006585E-5	0.008
18	21508087	A	T	18	23928123	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.A8178T:p.R2726S;LAMA3:NM_001127718:exon25:c.A3183T:p.R1061S;LAMA3:NM_001127717:exon62:c.A8010T:p.R2670S;LAMA3:NM_000227:exon26:c.A3351T:p.R1117S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.A3351T:p.R1117S;ENSG00000053747:ENST00000587184:exon25:c.A3183T:p.R1061S;ENSG00000053747:ENST00000399516:exon62:c.A8010T:p.R2670S;ENSG00000053747:ENST00000313654:exon63:c.A8178T:p.R2726S;	2.48052655938598E-4	0.116
18	21508088	T	A	18	23928124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.T8179A:p.F2727I;LAMA3:NM_001127718:exon25:c.T3184A:p.F1062I;LAMA3:NM_001127717:exon62:c.T8011A:p.F2671I;LAMA3:NM_000227:exon26:c.T3352A:p.F1118I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.T3352A:p.F1118I;ENSG00000053747:ENST00000587184:exon25:c.T3184A:p.F1062I;ENSG00000053747:ENST00000399516:exon62:c.T8011A:p.F2671I;ENSG00000053747:ENST00000313654:exon63:c.T8179A:p.F2727I;	0.89682010976443	0.412
18	21508088	T	C	18	23928124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.T8179C:p.F2727L;LAMA3:NM_001127718:exon25:c.T3184C:p.F1062L;LAMA3:NM_001127717:exon62:c.T8011C:p.F2671L;LAMA3:NM_000227:exon26:c.T3352C:p.F1118L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.T3352C:p.F1118L;ENSG00000053747:ENST00000587184:exon25:c.T3184C:p.F1062L;ENSG00000053747:ENST00000399516:exon62:c.T8011C:p.F2671L;ENSG00000053747:ENST00000313654:exon63:c.T8179C:p.F2727L;	0.783235460605065	0.38
18	21508088	T	G	18	23928124	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.T8179G:p.F2727V;LAMA3:NM_001127718:exon25:c.T3184G:p.F1062V;LAMA3:NM_001127717:exon62:c.T8011G:p.F2671V;LAMA3:NM_000227:exon26:c.T3352G:p.F1118V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.T3352G:p.F1118V;ENSG00000053747:ENST00000587184:exon25:c.T3184G:p.F1062V;ENSG00000053747:ENST00000399516:exon62:c.T8011G:p.F2671V;ENSG00000053747:ENST00000313654:exon63:c.T8179G:p.F2727V;	0.856348478523827	0.402
18	21508202	A	C	18	23928238	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.A8293C:p.K2765Q;LAMA3:NM_001127718:exon25:c.A3298C:p.K1100Q;LAMA3:NM_001127717:exon62:c.A8125C:p.K2709Q;LAMA3:NM_000227:exon26:c.A3466C:p.K1156Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.A3466C:p.K1156Q;ENSG00000053747:ENST00000587184:exon25:c.A3298C:p.K1100Q;ENSG00000053747:ENST00000399516:exon62:c.A8125C:p.K2709Q;ENSG00000053747:ENST00000313654:exon63:c.A8293C:p.K2765Q;	9.09296709202896E-5	0.0
18	21508202	A	G	18	23928238	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.A8293G:p.K2765E;LAMA3:NM_001127718:exon25:c.A3298G:p.K1100E;LAMA3:NM_001127717:exon62:c.A8125G:p.K2709E;LAMA3:NM_000227:exon26:c.A3466G:p.K1156E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.A3466G:p.K1156E;ENSG00000053747:ENST00000587184:exon25:c.A3298G:p.K1100E;ENSG00000053747:ENST00000399516:exon62:c.A8125G:p.K2709E;ENSG00000053747:ENST00000313654:exon63:c.A8293G:p.K2765E;	1.12278469095946E-5	0.058
18	21508202	A	T	18	23928238	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon63:c.A8293T:p.K2765X;LAMA3:NM_001127718:exon25:c.A3298T:p.K1100X;LAMA3:NM_001127717:exon62:c.A8125T:p.K2709X;LAMA3:NM_000227:exon26:c.A3466T:p.K1156X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon26:c.A3466T:p.K1156X;ENSG00000053747:ENST00000587184:exon25:c.A3298T:p.K1100X;ENSG00000053747:ENST00000399516:exon62:c.A8125T:p.K2709X;ENSG00000053747:ENST00000313654:exon63:c.A8293T:p.K2765X;	0.00303371525482484	0.322
18	21508203	A	C	18	23928239	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.A8294C:p.K2765T;LAMA3:NM_001127718:exon25:c.A3299C:p.K1100T;LAMA3:NM_001127717:exon62:c.A8126C:p.K2709T;LAMA3:NM_000227:exon26:c.A3467C:p.K1156T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.A3467C:p.K1156T;ENSG00000053747:ENST00000587184:exon25:c.A3299C:p.K1100T;ENSG00000053747:ENST00000399516:exon62:c.A8126C:p.K2709T;ENSG00000053747:ENST00000313654:exon63:c.A8294C:p.K2765T;	0.477950708613712	0.514
18	21508203	A	G	18	23928239	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.A8294G:p.K2765R;LAMA3:NM_001127718:exon25:c.A3299G:p.K1100R;LAMA3:NM_001127717:exon62:c.A8126G:p.K2709R;LAMA3:NM_000227:exon26:c.A3467G:p.K1156R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.A3467G:p.K1156R;ENSG00000053747:ENST00000587184:exon25:c.A3299G:p.K1100R;ENSG00000053747:ENST00000399516:exon62:c.A8126G:p.K2709R;ENSG00000053747:ENST00000313654:exon63:c.A8294G:p.K2765R;	0.246318089197788	0.42
18	21508203	A	T	18	23928239	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.A8294T:p.K2765M;LAMA3:NM_001127718:exon25:c.A3299T:p.K1100M;LAMA3:NM_001127717:exon62:c.A8126T:p.K2709M;LAMA3:NM_000227:exon26:c.A3467T:p.K1156M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.A3467T:p.K1156M;ENSG00000053747:ENST00000587184:exon25:c.A3299T:p.K1100M;ENSG00000053747:ENST00000399516:exon62:c.A8126T:p.K2709M;ENSG00000053747:ENST00000313654:exon63:c.A8294T:p.K2765M;	0.48692820175316	0.482
18	21508204	G	A	18	23928240	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon63:c.G8295A:p.K2765K;LAMA3:NM_001127718:exon25:c.G3300A:p.K1100K;LAMA3:NM_001127717:exon62:c.G8127A:p.K2709K;LAMA3:NM_000227:exon26:c.G3468A:p.K1156K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.G3468A:p.K1156K;ENSG00000053747:ENST00000587184:exon25:c.G3300A:p.K1100K;ENSG00000053747:ENST00000399516:exon62:c.G8127A:p.K2709K;ENSG00000053747:ENST00000313654:exon63:c.G8295A:p.K2765K;	0.442276326702394	0.486
18	21508204	G	C	18	23928240	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.G8295C:p.K2765N;LAMA3:NM_001127718:exon25:c.G3300C:p.K1100N;LAMA3:NM_001127717:exon62:c.G8127C:p.K2709N;LAMA3:NM_000227:exon26:c.G3468C:p.K1156N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.G3468C:p.K1156N;ENSG00000053747:ENST00000587184:exon25:c.G3300C:p.K1100N;ENSG00000053747:ENST00000399516:exon62:c.G8127C:p.K2709N;ENSG00000053747:ENST00000313654:exon63:c.G8295C:p.K2765N;	0.873426868560577	0.656
18	21508204	G	T	18	23928240	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon63:c.G8295T:p.K2765N;LAMA3:NM_001127718:exon25:c.G3300T:p.K1100N;LAMA3:NM_001127717:exon62:c.G8127T:p.K2709N;LAMA3:NM_000227:exon26:c.G3468T:p.K1156N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon26:c.G3468T:p.K1156N;ENSG00000053747:ENST00000587184:exon25:c.G3300T:p.K1100N;ENSG00000053747:ENST00000399516:exon62:c.G8127T:p.K2709N;ENSG00000053747:ENST00000313654:exon63:c.G8295T:p.K2765N;	0.852282057957391	0.748
18	21508205	G	A	18	23928241	y	y	splicing	LAMA3(NM_001127717:exon62:c.8127+1G>A;NM_198129:exon63:c.8295+1G>A;NM_001127718:exon25:c.3300+1G>A;NM_000227:exon26:c.3468+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8295+1G>A;ENST00000399516:exon62:c.8127+1G>A;ENST00000269217:exon26:c.3468+1G>A;ENST00000587184:exon25:c.3300+1G>A;ENST00000586751:exon23:c.3073+1G>A;ENST00000588164:exon1:c.2+1G>A)	.	.	0.999989072007339	0.922
18	21508205	G	C	18	23928241	y	y	splicing	LAMA3(NM_001127717:exon62:c.8127+1G>C;NM_198129:exon63:c.8295+1G>C;NM_001127718:exon25:c.3300+1G>C;NM_000227:exon26:c.3468+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8295+1G>C;ENST00000399516:exon62:c.8127+1G>C;ENST00000269217:exon26:c.3468+1G>C;ENST00000587184:exon25:c.3300+1G>C;ENST00000586751:exon23:c.3073+1G>C;ENST00000588164:exon1:c.2+1G>C)	.	.	0.999989072007339	0.934
18	21508205	G	T	18	23928241	y	y	splicing	LAMA3(NM_001127717:exon62:c.8127+1G>T;NM_198129:exon63:c.8295+1G>T;NM_001127718:exon25:c.3300+1G>T;NM_000227:exon26:c.3468+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8295+1G>T;ENST00000399516:exon62:c.8127+1G>T;ENST00000269217:exon26:c.3468+1G>T;ENST00000587184:exon25:c.3300+1G>T;ENST00000586751:exon23:c.3073+1G>T;ENST00000588164:exon1:c.2+1G>T)	.	.	0.999989072007339	0.934
18	21508206	T	A	18	23928242	y	y	splicing	LAMA3(NM_001127717:exon62:c.8127+2T>A;NM_198129:exon63:c.8295+2T>A;NM_001127718:exon25:c.3300+2T>A;NM_000227:exon26:c.3468+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8295+2T>A;ENST00000399516:exon62:c.8127+2T>A;ENST00000269217:exon26:c.3468+2T>A;ENST00000587184:exon25:c.3300+2T>A;ENST00000586751:exon23:c.3073+2T>A;ENST00000588164:exon1:c.2+2T>A)	.	.	0.999988247793601	0.928
18	21508206	T	C	18	23928242	y	y	splicing	LAMA3(NM_001127717:exon62:c.8127+2T>C;NM_198129:exon63:c.8295+2T>C;NM_001127718:exon25:c.3300+2T>C;NM_000227:exon26:c.3468+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8295+2T>C;ENST00000399516:exon62:c.8127+2T>C;ENST00000269217:exon26:c.3468+2T>C;ENST00000587184:exon25:c.3300+2T>C;ENST00000586751:exon23:c.3073+2T>C;ENST00000588164:exon1:c.2+2T>C)	.	.	0.98322925333772	0.646
18	21508206	T	G	18	23928242	y	y	splicing	LAMA3(NM_001127717:exon62:c.8127+2T>G;NM_198129:exon63:c.8295+2T>G;NM_001127718:exon25:c.3300+2T>G;NM_000227:exon26:c.3468+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon63:c.8295+2T>G;ENST00000399516:exon62:c.8127+2T>G;ENST00000269217:exon26:c.3468+2T>G;ENST00000587184:exon25:c.3300+2T>G;ENST00000586751:exon23:c.3073+2T>G;ENST00000588164:exon1:c.2+2T>G)	.	.	0.999978952611685	0.93
18	21508207	A	C	18	23928243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.130932833008349	0.42
18	21508207	A	G	18	23928243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00245804107098E-4	0.008
18	21508207	A	T	18	23928243	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0763264019655008	0.434
18	21508208	A	C	18	23928244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.133174465009495	0.462
18	21508208	A	G	18	23928244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.47412237996729	0.432
18	21508208	A	T	18	23928244	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.495163277325526	0.476
18	21508209	G	A	18	23928245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.900121660211807	0.476
18	21508209	G	C	18	23928245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.639950720861369	0.406
18	21508209	G	T	18	23928245	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.73864430770667	0.422
18	21508210	T	A	18	23928246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.50521469065101E-4	0.04
18	21508210	T	C	18	23928246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.39883790975053E-4	0.016
18	21508210	T	G	18	23928246	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.06131485724952E-5	0.014
18	21508211	G	A	18	23928247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.50411501565218E-5	0.016
18	21508211	G	C	18	23928247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45307536862929E-5	0.016
18	21508211	G	T	18	23928247	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.10777434070336E-5	0.018
18	21508212	A	C	18	23928248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.35428655471156E-5	0.0
18	21508212	A	G	18	23928248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44891277280084E-5	0.0
18	21508212	A	T	18	23928248	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.35428655471156E-5	0.0
18	21508577	T	A	18	23928613	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.122544897902744	0.436
18	21508577	T	C	18	23928613	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00164957384302637	0.056
18	21508577	T	G	18	23928613	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0164628052699966	0.332
18	21508578	T	A	18	23928614	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.702935089041686	0.62
18	21508578	T	C	18	23928614	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.266196461931314	0.288
18	21508578	T	G	18	23928614	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.785418815918535	0.586
18	21508579	T	A	18	23928615	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999945537035124	0.964
18	21508579	T	C	18	23928615	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0251805234614723	0.164
18	21508579	T	G	18	23928615	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.938892019716394	0.574
18	21508580	G	A	18	23928616	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00229412953551397	0.104
18	21508580	G	C	18	23928616	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.29312133996593E-4	0.01
18	21508580	G	T	18	23928616	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.73424048832573E-4	0.072
18	21508581	C	A	18	23928617	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.22419066431239E-4	0.074
18	21508581	C	G	18	23928617	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00147996855309502	0.12
18	21508581	C	T	18	23928617	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.32340539212405E-4	0.004
18	21508582	A	C	18	23928618	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00131894528275E-5	0.006
18	21508582	A	G	18	23928618	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17745407979938E-5	0.002
18	21508582	A	T	18	23928618	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00131894528275E-5	0.004
18	21508583	T	A	18	23928619	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.334583111827899	0.432
18	21508583	T	C	18	23928619	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.67299777049635E-4	0.044
18	21508583	T	G	18	23928619	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999634866283481	0.964
18	21508584	T	A	18	23928620	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.988265965355327	0.7
18	21508584	T	C	18	23928620	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.131765182805056	0.286
18	21508584	T	G	18	23928620	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.870483187848601	0.588
18	21508585	T	A	18	23928621	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.18200279415303E-4	0.05
18	21508585	T	C	18	23928621	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.90781634119689E-4	0.04
18	21508585	T	G	18	23928621	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.53780037376536E-4	0.066
18	21508586	C	A	18	23928622	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0545965223677049	0.376
18	21508586	C	G	18	23928622	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994703962612212	0.904
18	21508586	C	T	18	23928622	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.78301568973377E-4	0.08
18	21508587	A	C	18	23928623	y	y	splicing	LAMA3(NM_001127717:exon63:c.8128-2A>C;NM_198129:exon64:c.8296-2A>C;NM_001127718:exon26:c.3301-2A>C;NM_000227:exon27:c.3469-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8296-2A>C;ENST00000399516:exon63:c.8128-2A>C;ENST00000269217:exon27:c.3469-2A>C;ENST00000587184:exon26:c.3301-2A>C;ENST00000586751:exon24:c.3074-2A>C;ENST00000588164:exon2:c.3-2A>C)	.	.	0.999986741007567	0.946
18	21508587	A	G	18	23928623	y	y	splicing	LAMA3(NM_001127717:exon63:c.8128-2A>G;NM_198129:exon64:c.8296-2A>G;NM_001127718:exon26:c.3301-2A>G;NM_000227:exon27:c.3469-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8296-2A>G;ENST00000399516:exon63:c.8128-2A>G;ENST00000269217:exon27:c.3469-2A>G;ENST00000587184:exon26:c.3301-2A>G;ENST00000586751:exon24:c.3074-2A>G;ENST00000588164:exon2:c.3-2A>G)	.	.	0.999986741007567	0.946
18	21508587	A	T	18	23928623	y	y	splicing	LAMA3(NM_001127717:exon63:c.8128-2A>T;NM_198129:exon64:c.8296-2A>T;NM_001127718:exon26:c.3301-2A>T;NM_000227:exon27:c.3469-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8296-2A>T;ENST00000399516:exon63:c.8128-2A>T;ENST00000269217:exon27:c.3469-2A>T;ENST00000587184:exon26:c.3301-2A>T;ENST00000586751:exon24:c.3074-2A>T;ENST00000588164:exon2:c.3-2A>T)	.	.	0.999986741007567	0.946
18	21508588	G	A	18	23928624	y	y	splicing	LAMA3(NM_001127717:exon63:c.8128-1G>A;NM_198129:exon64:c.8296-1G>A;NM_001127718:exon26:c.3301-1G>A;NM_000227:exon27:c.3469-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8296-1G>A;ENST00000399516:exon63:c.8128-1G>A;ENST00000269217:exon27:c.3469-1G>A;ENST00000587184:exon26:c.3301-1G>A;ENST00000586751:exon24:c.3074-1G>A;ENST00000588164:exon2:c.3-1G>A)	.	.	0.999989125585301	0.944
18	21508588	G	C	18	23928624	y	y	splicing	LAMA3(NM_001127717:exon63:c.8128-1G>C;NM_198129:exon64:c.8296-1G>C;NM_001127718:exon26:c.3301-1G>C;NM_000227:exon27:c.3469-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8296-1G>C;ENST00000399516:exon63:c.8128-1G>C;ENST00000269217:exon27:c.3469-1G>C;ENST00000587184:exon26:c.3301-1G>C;ENST00000586751:exon24:c.3074-1G>C;ENST00000588164:exon2:c.3-1G>C)	.	.	0.999989125585301	0.944
18	21508588	G	T	18	23928624	y	y	splicing	LAMA3(NM_001127717:exon63:c.8128-1G>T;NM_198129:exon64:c.8296-1G>T;NM_001127718:exon26:c.3301-1G>T;NM_000227:exon27:c.3469-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8296-1G>T;ENST00000399516:exon63:c.8128-1G>T;ENST00000269217:exon27:c.3469-1G>T;ENST00000587184:exon26:c.3301-1G>T;ENST00000586751:exon24:c.3074-1G>T;ENST00000588164:exon2:c.3-1G>T)	.	.	0.999989125585301	0.944
18	21508589	C	A	18	23928625	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.C8296A:p.L2766I;LAMA3:NM_001127718:exon26:c.C3301A:p.L1101I;LAMA3:NM_001127717:exon63:c.C8128A:p.L2710I;LAMA3:NM_000227:exon27:c.C3469A:p.L1157I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.C3469A:p.L1157I;ENSG00000053747:ENST00000587184:exon26:c.C3301A:p.L1101I;ENSG00000053747:ENST00000399516:exon63:c.C8128A:p.L2710I;ENSG00000053747:ENST00000313654:exon64:c.C8296A:p.L2766I;	0.00545295059065689	0.074
18	21508589	C	G	18	23928625	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.C8296G:p.L2766V;LAMA3:NM_001127718:exon26:c.C3301G:p.L1101V;LAMA3:NM_001127717:exon63:c.C8128G:p.L2710V;LAMA3:NM_000227:exon27:c.C3469G:p.L1157V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.C3469G:p.L1157V;ENSG00000053747:ENST00000587184:exon26:c.C3301G:p.L1101V;ENSG00000053747:ENST00000399516:exon63:c.C8128G:p.L2710V;ENSG00000053747:ENST00000313654:exon64:c.C8296G:p.L2766V;	0.73928962398197	0.544
18	21508589	C	T	18	23928625	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.C8296T:p.L2766F;LAMA3:NM_001127718:exon26:c.C3301T:p.L1101F;LAMA3:NM_001127717:exon63:c.C8128T:p.L2710F;LAMA3:NM_000227:exon27:c.C3469T:p.L1157F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.C3469T:p.L1157F;ENSG00000053747:ENST00000587184:exon26:c.C3301T:p.L1101F;ENSG00000053747:ENST00000399516:exon63:c.C8128T:p.L2710F;ENSG00000053747:ENST00000313654:exon64:c.C8296T:p.L2766F;	0.995779478595732	0.862
18	21508590	T	A	18	23928626	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.T8297A:p.L2766H;LAMA3:NM_001127718:exon26:c.T3302A:p.L1101H;LAMA3:NM_001127717:exon63:c.T8129A:p.L2710H;LAMA3:NM_000227:exon27:c.T3470A:p.L1157H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.T3470A:p.L1157H;ENSG00000053747:ENST00000587184:exon26:c.T3302A:p.L1101H;ENSG00000053747:ENST00000399516:exon63:c.T8129A:p.L2710H;ENSG00000053747:ENST00000313654:exon64:c.T8297A:p.L2766H;	0.893744483726823	0.434
18	21508590	T	C	18	23928626	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.T8297C:p.L2766P;LAMA3:NM_001127718:exon26:c.T3302C:p.L1101P;LAMA3:NM_001127717:exon63:c.T8129C:p.L2710P;LAMA3:NM_000227:exon27:c.T3470C:p.L1157P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.T3470C:p.L1157P;ENSG00000053747:ENST00000587184:exon26:c.T3302C:p.L1101P;ENSG00000053747:ENST00000399516:exon63:c.T8129C:p.L2710P;ENSG00000053747:ENST00000313654:exon64:c.T8297C:p.L2766P;	0.886876081173342	0.468
18	21508590	T	G	18	23928626	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.T8297G:p.L2766R;LAMA3:NM_001127718:exon26:c.T3302G:p.L1101R;LAMA3:NM_001127717:exon63:c.T8129G:p.L2710R;LAMA3:NM_000227:exon27:c.T3470G:p.L1157R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.T3470G:p.L1157R;ENSG00000053747:ENST00000587184:exon26:c.T3302G:p.L1101R;ENSG00000053747:ENST00000399516:exon63:c.T8129G:p.L2710R;ENSG00000053747:ENST00000313654:exon64:c.T8297G:p.L2766R;	0.848662772743996	0.416
18	21508727	T	A	18	23928763	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.T8434A:p.W2812R;LAMA3:NM_001127718:exon26:c.T3439A:p.W1147R;LAMA3:NM_001127717:exon63:c.T8266A:p.W2756R;LAMA3:NM_000227:exon27:c.T3607A:p.W1203R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.T3607A:p.W1203R;ENSG00000053747:ENST00000587184:exon26:c.T3439A:p.W1147R;ENSG00000053747:ENST00000399516:exon63:c.T8266A:p.W2756R;ENSG00000053747:ENST00000313654:exon64:c.T8434A:p.W2812R;	1.50842718492841E-5	0.022
18	21508727	T	C	18	23928763	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.T8434C:p.W2812R;LAMA3:NM_001127718:exon26:c.T3439C:p.W1147R;LAMA3:NM_001127717:exon63:c.T8266C:p.W2756R;LAMA3:NM_000227:exon27:c.T3607C:p.W1203R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.T3607C:p.W1203R;ENSG00000053747:ENST00000587184:exon26:c.T3439C:p.W1147R;ENSG00000053747:ENST00000399516:exon63:c.T8266C:p.W2756R;ENSG00000053747:ENST00000313654:exon64:c.T8434C:p.W2812R;	2.06453814448759E-5	0.018
18	21508727	T	G	18	23928763	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.T8434G:p.W2812G;LAMA3:NM_001127718:exon26:c.T3439G:p.W1147G;LAMA3:NM_001127717:exon63:c.T8266G:p.W2756G;LAMA3:NM_000227:exon27:c.T3607G:p.W1203G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.T3607G:p.W1203G;ENSG00000053747:ENST00000587184:exon26:c.T3439G:p.W1147G;ENSG00000053747:ENST00000399516:exon63:c.T8266G:p.W2756G;ENSG00000053747:ENST00000313654:exon64:c.T8434G:p.W2812G;	2.67440796908425E-5	0.002
18	21508728	G	A	18	23928764	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon64:c.G8435A:p.W2812X;LAMA3:NM_001127718:exon26:c.G3440A:p.W1147X;LAMA3:NM_001127717:exon63:c.G8267A:p.W2756X;LAMA3:NM_000227:exon27:c.G3608A:p.W1203X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon27:c.G3608A:p.W1203X;ENSG00000053747:ENST00000587184:exon26:c.G3440A:p.W1147X;ENSG00000053747:ENST00000399516:exon63:c.G8267A:p.W2756X;ENSG00000053747:ENST00000313654:exon64:c.G8435A:p.W2812X;	6.57223379071087E-4	0.358
18	21508728	G	C	18	23928764	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.G8435C:p.W2812S;LAMA3:NM_001127718:exon26:c.G3440C:p.W1147S;LAMA3:NM_001127717:exon63:c.G8267C:p.W2756S;LAMA3:NM_000227:exon27:c.G3608C:p.W1203S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.G3608C:p.W1203S;ENSG00000053747:ENST00000587184:exon26:c.G3440C:p.W1147S;ENSG00000053747:ENST00000399516:exon63:c.G8267C:p.W2756S;ENSG00000053747:ENST00000313654:exon64:c.G8435C:p.W2812S;	8.24162456325694E-5	0.0
18	21508728	G	T	18	23928764	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.G8435T:p.W2812L;LAMA3:NM_001127718:exon26:c.G3440T:p.W1147L;LAMA3:NM_001127717:exon63:c.G8267T:p.W2756L;LAMA3:NM_000227:exon27:c.G3608T:p.W1203L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.G3608T:p.W1203L;ENSG00000053747:ENST00000587184:exon26:c.G3440T:p.W1147L;ENSG00000053747:ENST00000399516:exon63:c.G8267T:p.W2756L;ENSG00000053747:ENST00000313654:exon64:c.G8435T:p.W2812L;	4.7070235062294E-5	0.0
18	21508729	G	A	18	23928765	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon64:c.G8436A:p.W2812X;LAMA3:NM_001127718:exon26:c.G3441A:p.W1147X;LAMA3:NM_001127717:exon63:c.G8268A:p.W2756X;LAMA3:NM_000227:exon27:c.G3609A:p.W1203X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon27:c.G3609A:p.W1203X;ENSG00000053747:ENST00000587184:exon26:c.G3441A:p.W1147X;ENSG00000053747:ENST00000399516:exon63:c.G8268A:p.W2756X;ENSG00000053747:ENST00000313654:exon64:c.G8436A:p.W2812X;	0.999993934037035	0.962
18	21508729	G	C	18	23928765	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.G8436C:p.W2812C;LAMA3:NM_001127718:exon26:c.G3441C:p.W1147C;LAMA3:NM_001127717:exon63:c.G8268C:p.W2756C;LAMA3:NM_000227:exon27:c.G3609C:p.W1203C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.G3609C:p.W1203C;ENSG00000053747:ENST00000587184:exon26:c.G3441C:p.W1147C;ENSG00000053747:ENST00000399516:exon63:c.G8268C:p.W2756C;ENSG00000053747:ENST00000313654:exon64:c.G8436C:p.W2812C;	0.999986006393569	0.998
18	21508729	G	T	18	23928765	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon64:c.G8436T:p.W2812C;LAMA3:NM_001127718:exon26:c.G3441T:p.W1147C;LAMA3:NM_001127717:exon63:c.G8268T:p.W2756C;LAMA3:NM_000227:exon27:c.G3609T:p.W1203C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon27:c.G3609T:p.W1203C;ENSG00000053747:ENST00000587184:exon26:c.G3441T:p.W1147C;ENSG00000053747:ENST00000399516:exon63:c.G8268T:p.W2756C;ENSG00000053747:ENST00000313654:exon64:c.G8436T:p.W2812C;	0.999953492099253	0.998
18	21508730	G	A	18	23928766	y	y	splicing	LAMA3(NM_001127717:exon63:c.8268+1G>A;NM_198129:exon64:c.8436+1G>A;NM_001127718:exon26:c.3441+1G>A;NM_000227:exon27:c.3609+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8436+1G>A;ENST00000399516:exon63:c.8268+1G>A;ENST00000269217:exon27:c.3609+1G>A;ENST00000587184:exon26:c.3441+1G>A;ENST00000586751:exon24:c.3214+1G>A;ENST00000588164:exon2:c.143+1G>A)	.	.	0.999971209564868	0.956
18	21508730	G	C	18	23928766	y	y	splicing	LAMA3(NM_001127717:exon63:c.8268+1G>C;NM_198129:exon64:c.8436+1G>C;NM_001127718:exon26:c.3441+1G>C;NM_000227:exon27:c.3609+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8436+1G>C;ENST00000399516:exon63:c.8268+1G>C;ENST00000269217:exon27:c.3609+1G>C;ENST00000587184:exon26:c.3441+1G>C;ENST00000586751:exon24:c.3214+1G>C;ENST00000588164:exon2:c.143+1G>C)	.	.	0.999960597114489	0.932
18	21508730	G	T	18	23928766	y	y	splicing	LAMA3(NM_001127717:exon63:c.8268+1G>T;NM_198129:exon64:c.8436+1G>T;NM_001127718:exon26:c.3441+1G>T;NM_000227:exon27:c.3609+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8436+1G>T;ENST00000399516:exon63:c.8268+1G>T;ENST00000269217:exon27:c.3609+1G>T;ENST00000587184:exon26:c.3441+1G>T;ENST00000586751:exon24:c.3214+1G>T;ENST00000588164:exon2:c.143+1G>T)	.	.	0.999971209564868	0.954
18	21508731	T	A	18	23928767	y	y	splicing	LAMA3(NM_001127717:exon63:c.8268+2T>A;NM_198129:exon64:c.8436+2T>A;NM_001127718:exon26:c.3441+2T>A;NM_000227:exon27:c.3609+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8436+2T>A;ENST00000399516:exon63:c.8268+2T>A;ENST00000269217:exon27:c.3609+2T>A;ENST00000587184:exon26:c.3441+2T>A;ENST00000586751:exon24:c.3214+2T>A;ENST00000588164:exon2:c.143+2T>A)	.	.	0.999964896440643	0.964
18	21508731	T	C	18	23928767	y	y	splicing	LAMA3(NM_001127717:exon63:c.8268+2T>C;NM_198129:exon64:c.8436+2T>C;NM_001127718:exon26:c.3441+2T>C;NM_000227:exon27:c.3609+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8436+2T>C;ENST00000399516:exon63:c.8268+2T>C;ENST00000269217:exon27:c.3609+2T>C;ENST00000587184:exon26:c.3441+2T>C;ENST00000586751:exon24:c.3214+2T>C;ENST00000588164:exon2:c.143+2T>C)	.	.	0.999774297336239	0.846
18	21508731	T	G	18	23928767	y	y	splicing	LAMA3(NM_001127717:exon63:c.8268+2T>G;NM_198129:exon64:c.8436+2T>G;NM_001127718:exon26:c.3441+2T>G;NM_000227:exon27:c.3609+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon64:c.8436+2T>G;ENST00000399516:exon63:c.8268+2T>G;ENST00000269217:exon27:c.3609+2T>G;ENST00000587184:exon26:c.3441+2T>G;ENST00000586751:exon24:c.3214+2T>G;ENST00000588164:exon2:c.143+2T>G)	.	.	0.999963671976247	0.944
18	21508732	A	C	18	23928768	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999909702636641	0.94
18	21508732	A	G	18	23928768	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998503259417218	0.778
18	21508732	A	T	18	23928768	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999945064958052	0.944
18	21508733	T	A	18	23928769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.6572577368399E-4	0.1
18	21508733	T	C	18	23928769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.30256414366317E-4	0.024
18	21508733	T	G	18	23928769	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.39351349679335E-4	0.028
18	21508734	G	A	18	23928770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99998449651676	0.928
18	21508734	G	C	18	23928770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999988535216536	0.914
18	21508734	G	T	18	23928770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999986831123232	0.852
18	21508735	C	A	18	23928771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.77403651923131E-4	0.006
18	21508735	C	G	18	23928771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.4327191414728E-4	0.038
18	21508735	C	T	18	23928771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.67944982512943E-5	0.0
18	21508736	A	C	18	23928772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.6566948656905E-4	0.064
18	21508736	A	G	18	23928772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.6566948656905E-4	0.072
18	21508736	A	T	18	23928772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.57749051174203E-4	0.038
18	21508737	G	A	18	23928773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.84769070993657E-4	0.008
18	21508737	G	C	18	23928773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.91638237147275E-5	0.0
18	21508737	G	T	18	23928773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.30439082188446E-4	0.016
18	21511014	T	A	18	23931050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999941759455274	0.958
18	21511014	T	C	18	23931050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00139142799847786	0.172
18	21511014	T	G	18	23931050	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999945666608508	0.97
18	21511015	G	A	18	23931051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998190724015402	0.944
18	21511015	G	C	18	23931051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.02323858892156E-4	0.166
18	21511015	G	T	18	23931051	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.02323858892156E-4	0.19
18	21511016	G	A	18	23931052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09404728446195E-4	0.02
18	21511016	G	C	18	23931052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.28323663992268E-5	0.018
18	21511016	G	T	18	23931052	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.28323663992268E-5	0.016
18	21511017	T	A	18	23931053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999966444428069	0.964
18	21511017	T	C	18	23931053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.90771115708549E-5	0.038
18	21511017	T	G	18	23931053	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.783682110915846	0.628
18	21511018	G	A	18	23931054	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.81381572744803E-4	0.092
18	21511018	G	C	18	23931054	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.86574075449351E-4	0.008
18	21511018	G	T	18	23931054	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.62405198244088E-4	0.008
18	21511019	A	C	18	23931055	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.69227488686644E-4	0.066
18	21511019	A	G	18	23931055	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00110698247555867	0.084
18	21511019	A	T	18	23931055	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.361234325012E-4	0.05
18	21511020	T	A	18	23931056	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.949995828838987	0.682
18	21511020	T	C	18	23931056	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.010142198695951	0.094
18	21511020	T	G	18	23931056	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999940101072252	0.962
18	21511021	T	A	18	23931057	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998063181117908	0.892
18	21511021	T	C	18	23931057	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.057829899405428	0.222
18	21511021	T	G	18	23931057	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998614787320196	0.796
18	21511022	T	A	18	23931058	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00240181793018329	0.038
18	21511022	T	C	18	23931058	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.41099608865632E-4	0.084
18	21511022	T	G	18	23931058	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.40720513632174E-5	0.056
18	21511023	C	A	18	23931059	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997540518412781	0.932
18	21511023	C	G	18	23931059	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999657459281245	0.854
18	21511023	C	T	18	23931059	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0175948912482402	0.086
18	21511024	A	C	18	23931060	y	y	splicing	LAMA3(NM_001127717:exon64:c.8269-2A>C;NM_198129:exon65:c.8437-2A>C;NM_001127718:exon27:c.3442-2A>C;NM_000227:exon28:c.3610-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon65:c.8437-2A>C;ENST00000399516:exon64:c.8269-2A>C;ENST00000269217:exon28:c.3610-2A>C;ENST00000587184:exon27:c.3442-2A>C;ENST00000586751:exon25:c.3215-2A>C;ENST00000588164:exon3:c.144-2A>C)	.	.	0.999982322733069	0.912
18	21511024	A	G	18	23931060	y	y	splicing	LAMA3(NM_001127717:exon64:c.8269-2A>G;NM_198129:exon65:c.8437-2A>G;NM_001127718:exon27:c.3442-2A>G;NM_000227:exon28:c.3610-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon65:c.8437-2A>G;ENST00000399516:exon64:c.8269-2A>G;ENST00000269217:exon28:c.3610-2A>G;ENST00000587184:exon27:c.3442-2A>G;ENST00000586751:exon25:c.3215-2A>G;ENST00000588164:exon3:c.144-2A>G)	.	.	0.999982322733069	0.912
18	21511024	A	T	18	23931060	y	y	splicing	LAMA3(NM_001127717:exon64:c.8269-2A>T;NM_198129:exon65:c.8437-2A>T;NM_001127718:exon27:c.3442-2A>T;NM_000227:exon28:c.3610-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon65:c.8437-2A>T;ENST00000399516:exon64:c.8269-2A>T;ENST00000269217:exon28:c.3610-2A>T;ENST00000587184:exon27:c.3442-2A>T;ENST00000586751:exon25:c.3215-2A>T;ENST00000588164:exon3:c.144-2A>T)	.	.	0.999982322733069	0.912
18	21511025	G	A	18	23931061	y	y	splicing	LAMA3(NM_001127717:exon64:c.8269-1G>A;NM_198129:exon65:c.8437-1G>A;NM_001127718:exon27:c.3442-1G>A;NM_000227:exon28:c.3610-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon65:c.8437-1G>A;ENST00000399516:exon64:c.8269-1G>A;ENST00000269217:exon28:c.3610-1G>A;ENST00000587184:exon27:c.3442-1G>A;ENST00000586751:exon25:c.3215-1G>A;ENST00000588164:exon3:c.144-1G>A)	.	.	0.999968021563937	0.9
18	21511025	G	C	18	23931061	y	y	splicing	LAMA3(NM_001127717:exon64:c.8269-1G>C;NM_198129:exon65:c.8437-1G>C;NM_001127718:exon27:c.3442-1G>C;NM_000227:exon28:c.3610-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon65:c.8437-1G>C;ENST00000399516:exon64:c.8269-1G>C;ENST00000269217:exon28:c.3610-1G>C;ENST00000587184:exon27:c.3442-1G>C;ENST00000586751:exon25:c.3215-1G>C;ENST00000588164:exon3:c.144-1G>C)	.	.	0.999968021563937	0.9
18	21511025	G	T	18	23931061	y	y	splicing	LAMA3(NM_001127717:exon64:c.8269-1G>T;NM_198129:exon65:c.8437-1G>T;NM_001127718:exon27:c.3442-1G>T;NM_000227:exon28:c.3610-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon65:c.8437-1G>T;ENST00000399516:exon64:c.8269-1G>T;ENST00000269217:exon28:c.3610-1G>T;ENST00000587184:exon27:c.3442-1G>T;ENST00000586751:exon25:c.3215-1G>T;ENST00000588164:exon3:c.144-1G>T)	.	.	0.999968021563937	0.9
18	21511026	A	C	18	23931062	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.A8437C:p.T2813P;LAMA3:NM_001127718:exon27:c.A3442C:p.T1148P;LAMA3:NM_001127717:exon64:c.A8269C:p.T2757P;LAMA3:NM_000227:exon28:c.A3610C:p.T1204P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.A3610C:p.T1204P;ENSG00000053747:ENST00000587184:exon27:c.A3442C:p.T1148P;ENSG00000053747:ENST00000399516:exon64:c.A8269C:p.T2757P;ENSG00000053747:ENST00000313654:exon65:c.A8437C:p.T2813P;	0.0111132126294048	0.08
18	21511026	A	G	18	23931062	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.A8437G:p.T2813A;LAMA3:NM_001127718:exon27:c.A3442G:p.T1148A;LAMA3:NM_001127717:exon64:c.A8269G:p.T2757A;LAMA3:NM_000227:exon28:c.A3610G:p.T1204A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.A3610G:p.T1204A;ENSG00000053747:ENST00000587184:exon27:c.A3442G:p.T1148A;ENSG00000053747:ENST00000399516:exon64:c.A8269G:p.T2757A;ENSG00000053747:ENST00000313654:exon65:c.A8437G:p.T2813A;	2.41410854020482E-4	0.028
18	21511026	A	T	18	23931062	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.A8437T:p.T2813S;LAMA3:NM_001127718:exon27:c.A3442T:p.T1148S;LAMA3:NM_001127717:exon64:c.A8269T:p.T2757S;LAMA3:NM_000227:exon28:c.A3610T:p.T1204S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.A3610T:p.T1204S;ENSG00000053747:ENST00000587184:exon27:c.A3442T:p.T1148S;ENSG00000053747:ENST00000399516:exon64:c.A8269T:p.T2757S;ENSG00000053747:ENST00000313654:exon65:c.A8437T:p.T2813S;	0.00284851815962727	0.066
18	21511027	C	A	18	23931063	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.C8438A:p.T2813K;LAMA3:NM_001127718:exon27:c.C3443A:p.T1148K;LAMA3:NM_001127717:exon64:c.C8270A:p.T2757K;LAMA3:NM_000227:exon28:c.C3611A:p.T1204K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.C3611A:p.T1204K;ENSG00000053747:ENST00000587184:exon27:c.C3443A:p.T1148K;ENSG00000053747:ENST00000399516:exon64:c.C8270A:p.T2757K;ENSG00000053747:ENST00000313654:exon65:c.C8438A:p.T2813K;	4.62606080229259E-4	0.022
18	21511027	C	G	18	23931063	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.C8438G:p.T2813R;LAMA3:NM_001127718:exon27:c.C3443G:p.T1148R;LAMA3:NM_001127717:exon64:c.C8270G:p.T2757R;LAMA3:NM_000227:exon28:c.C3611G:p.T1204R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.C3611G:p.T1204R;ENSG00000053747:ENST00000587184:exon27:c.C3443G:p.T1148R;ENSG00000053747:ENST00000399516:exon64:c.C8270G:p.T2757R;ENSG00000053747:ENST00000313654:exon65:c.C8438G:p.T2813R;	0.00444343338985375	0.106
18	21511027	C	T	18	23931063	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.C8438T:p.T2813I;LAMA3:NM_001127718:exon27:c.C3443T:p.T1148I;LAMA3:NM_001127717:exon64:c.C8270T:p.T2757I;LAMA3:NM_000227:exon28:c.C3611T:p.T1204I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.C3611T:p.T1204I;ENSG00000053747:ENST00000587184:exon27:c.C3443T:p.T1148I;ENSG00000053747:ENST00000399516:exon64:c.C8270T:p.T2757I;ENSG00000053747:ENST00000313654:exon65:c.C8438T:p.T2813I;	0.00356778024415311	0.09
18	21511163	T	A	18	23931199	y	n	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon65:c.T8574A:p.S2858S;LAMA3:NM_001127718:exon27:c.T3579A:p.S1193S;LAMA3:NM_001127717:exon64:c.T8406A:p.S2802S;LAMA3:NM_000227:exon28:c.T3747A:p.S1249S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.T3747A:p.S1249S;ENSG00000053747:ENST00000587184:exon27:c.T3579A:p.S1193S;ENSG00000053747:ENST00000399516:exon64:c.T8406A:p.S2802S;ENSG00000053747:ENST00000313654:exon65:c.T8574A:p.S2858S;	2.47251321531935E-5	0.03
18	21511163	T	C	18	23931199	y	n	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon65:c.T8574C:p.S2858S;LAMA3:NM_001127718:exon27:c.T3579C:p.S1193S;LAMA3:NM_001127717:exon64:c.T8406C:p.S2802S;LAMA3:NM_000227:exon28:c.T3747C:p.S1249S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.T3747C:p.S1249S;ENSG00000053747:ENST00000587184:exon27:c.T3579C:p.S1193S;ENSG00000053747:ENST00000399516:exon64:c.T8406C:p.S2802S;ENSG00000053747:ENST00000313654:exon65:c.T8574C:p.S2858S;	4.09115857635052E-5	0.024
18	21511163	T	G	18	23931199	y	n	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon65:c.T8574G:p.S2858S;LAMA3:NM_001127718:exon27:c.T3579G:p.S1193S;LAMA3:NM_001127717:exon64:c.T8406G:p.S2802S;LAMA3:NM_000227:exon28:c.T3747G:p.S1249S;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.T3747G:p.S1249S;ENSG00000053747:ENST00000587184:exon27:c.T3579G:p.S1193S;ENSG00000053747:ENST00000399516:exon64:c.T8406G:p.S2802S;ENSG00000053747:ENST00000313654:exon65:c.T8574G:p.S2858S;	1.19484842191071E-4	0.062
18	21511164	G	A	18	23931200	y	n	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.G8575A:p.G2859R;LAMA3:NM_001127718:exon27:c.G3580A:p.G1194R;LAMA3:NM_001127717:exon64:c.G8407A:p.G2803R;LAMA3:NM_000227:exon28:c.G3748A:p.G1250R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.G3748A:p.G1250R;ENSG00000053747:ENST00000587184:exon27:c.G3580A:p.G1194R;ENSG00000053747:ENST00000399516:exon64:c.G8407A:p.G2803R;ENSG00000053747:ENST00000313654:exon65:c.G8575A:p.G2859R;	0.00133845416673043	0.072
18	21511164	G	C	18	23931200	y	n	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.G8575C:p.G2859R;LAMA3:NM_001127718:exon27:c.G3580C:p.G1194R;LAMA3:NM_001127717:exon64:c.G8407C:p.G2803R;LAMA3:NM_000227:exon28:c.G3748C:p.G1250R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.G3748C:p.G1250R;ENSG00000053747:ENST00000587184:exon27:c.G3580C:p.G1194R;ENSG00000053747:ENST00000399516:exon64:c.G8407C:p.G2803R;ENSG00000053747:ENST00000313654:exon65:c.G8575C:p.G2859R;	0.00234745401539826	0.04
18	21511164	G	T	18	23931200	y	n	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon65:c.G8575T:p.G2859X;LAMA3:NM_001127718:exon27:c.G3580T:p.G1194X;LAMA3:NM_001127717:exon64:c.G8407T:p.G2803X;LAMA3:NM_000227:exon28:c.G3748T:p.G1250X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon28:c.G3748T:p.G1250X;ENSG00000053747:ENST00000587184:exon27:c.G3580T:p.G1194X;ENSG00000053747:ENST00000399516:exon64:c.G8407T:p.G2803X;ENSG00000053747:ENST00000313654:exon65:c.G8575T:p.G2859X;	0.992993746537212	0.908
18	21511165	G	A	18	23931201	y	n	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.G8576A:p.G2859E;LAMA3:NM_001127718:exon27:c.G3581A:p.G1194E;LAMA3:NM_001127717:exon64:c.G8408A:p.G2803E;LAMA3:NM_000227:exon28:c.G3749A:p.G1250E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.G3749A:p.G1250E;ENSG00000053747:ENST00000587184:exon27:c.G3581A:p.G1194E;ENSG00000053747:ENST00000399516:exon64:c.G8408A:p.G2803E;ENSG00000053747:ENST00000313654:exon65:c.G8576A:p.G2859E;	0.999101650488725	0.956
18	21511165	G	C	18	23931201	y	n	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.G8576C:p.G2859A;LAMA3:NM_001127718:exon27:c.G3581C:p.G1194A;LAMA3:NM_001127717:exon64:c.G8408C:p.G2803A;LAMA3:NM_000227:exon28:c.G3749C:p.G1250A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.G3749C:p.G1250A;ENSG00000053747:ENST00000587184:exon27:c.G3581C:p.G1194A;ENSG00000053747:ENST00000399516:exon64:c.G8408C:p.G2803A;ENSG00000053747:ENST00000313654:exon65:c.G8576C:p.G2859A;	0.999781408005393	0.898
18	21511165	G	T	18	23931201	y	n	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon65:c.G8576T:p.G2859V;LAMA3:NM_001127718:exon27:c.G3581T:p.G1194V;LAMA3:NM_001127717:exon64:c.G8408T:p.G2803V;LAMA3:NM_000227:exon28:c.G3749T:p.G1250V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon28:c.G3749T:p.G1250V;ENSG00000053747:ENST00000587184:exon27:c.G3581T:p.G1194V;ENSG00000053747:ENST00000399516:exon64:c.G8408T:p.G2803V;ENSG00000053747:ENST00000313654:exon65:c.G8576T:p.G2859V;	0.999570113467754	0.982
18	21511166	G	A	18	23931202	y	n	splicing	LAMA3(NM_001127717:exon64:c.8408+1G>A;NM_198129:exon65:c.8576+1G>A;NM_001127718:exon27:c.3581+1G>A;NM_000227:exon28:c.3749+1G>A)	.	.	exonic;splicing	ENSG00000053747;ENSG00000053747(ENST00000313654:exon65:c.8576+1G>A;ENST00000399516:exon64:c.8408+1G>A;ENST00000269217:exon28:c.3749+1G>A;ENST00000587184:exon27:c.3581+1G>A;ENST00000586751:exon25:c.3354+1G>A)	unknown	UNKNOWN	0.999952286258862	0.878
18	21511166	G	C	18	23931202	y	n	splicing	LAMA3(NM_001127717:exon64:c.8408+1G>C;NM_198129:exon65:c.8576+1G>C;NM_001127718:exon27:c.3581+1G>C;NM_000227:exon28:c.3749+1G>C)	.	.	exonic;splicing	ENSG00000053747;ENSG00000053747(ENST00000313654:exon65:c.8576+1G>C;ENST00000399516:exon64:c.8408+1G>C;ENST00000269217:exon28:c.3749+1G>C;ENST00000587184:exon27:c.3581+1G>C;ENST00000586751:exon25:c.3354+1G>C)	unknown	UNKNOWN	0.999952286258862	0.862
18	21511166	G	T	18	23931202	y	n	splicing	LAMA3(NM_001127717:exon64:c.8408+1G>T;NM_198129:exon65:c.8576+1G>T;NM_001127718:exon27:c.3581+1G>T;NM_000227:exon28:c.3749+1G>T)	.	.	exonic;splicing	ENSG00000053747;ENSG00000053747(ENST00000313654:exon65:c.8576+1G>T;ENST00000399516:exon64:c.8408+1G>T;ENST00000269217:exon28:c.3749+1G>T;ENST00000587184:exon27:c.3581+1G>T;ENST00000586751:exon25:c.3354+1G>T)	unknown	UNKNOWN	0.999952286258862	0.86
18	21511167	T	A	18	23931203	y	n	splicing	LAMA3(NM_001127717:exon64:c.8408+2T>A;NM_198129:exon65:c.8576+2T>A;NM_001127718:exon27:c.3581+2T>A;NM_000227:exon28:c.3749+2T>A)	.	.	exonic;splicing	ENSG00000053747;ENSG00000053747(ENST00000313654:exon65:c.8576+2T>A;ENST00000399516:exon64:c.8408+2T>A;ENST00000269217:exon28:c.3749+2T>A;ENST00000587184:exon27:c.3581+2T>A;ENST00000586751:exon25:c.3354+2T>A)	unknown	UNKNOWN	0.999969255906173	0.858
18	21511167	T	C	18	23931203	y	n	splicing	LAMA3(NM_001127717:exon64:c.8408+2T>C;NM_198129:exon65:c.8576+2T>C;NM_001127718:exon27:c.3581+2T>C;NM_000227:exon28:c.3749+2T>C)	.	.	exonic;splicing	ENSG00000053747;ENSG00000053747(ENST00000313654:exon65:c.8576+2T>C;ENST00000399516:exon64:c.8408+2T>C;ENST00000269217:exon28:c.3749+2T>C;ENST00000587184:exon27:c.3581+2T>C;ENST00000586751:exon25:c.3354+2T>C)	unknown	UNKNOWN	0.999029161411728	0.8
18	21511167	T	G	18	23931203	y	n	splicing	LAMA3(NM_001127717:exon64:c.8408+2T>G;NM_198129:exon65:c.8576+2T>G;NM_001127718:exon27:c.3581+2T>G;NM_000227:exon28:c.3749+2T>G)	.	.	exonic;splicing	ENSG00000053747;ENSG00000053747(ENST00000313654:exon65:c.8576+2T>G;ENST00000399516:exon64:c.8408+2T>G;ENST00000269217:exon28:c.3749+2T>G;ENST00000587184:exon27:c.3581+2T>G;ENST00000586751:exon25:c.3354+2T>G)	unknown	UNKNOWN	0.999962958601995	0.84
18	21511168	G	A	18	23931204	y	n	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	1.14127032101363E-5	0.0
18	21511168	G	C	18	23931204	y	n	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	0.0312502557177936	0.294
18	21511168	G	T	18	23931204	y	n	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	0.0847550526572627	0.332
18	21511169	A	C	18	23931205	y	n	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	0.925755749368533	0.652
18	21511169	A	G	18	23931205	y	n	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	0.964051891922984	0.712
18	21511169	A	T	18	23931205	y	n	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	0.945351928960493	0.72
18	21511170	G	A	18	23931206	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	0.999934008232528	0.85
18	21511170	G	C	18	23931206	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	0.999959346297908	0.944
18	21511170	G	T	18	23931206	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	0.999774696179667	0.862
18	21511171	T	A	18	23931207	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	0.788471255611995	0.464
18	21511171	T	C	18	23931207	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	0.309460570691384	0.354
18	21511171	T	G	18	23931207	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	0.258632161427334	0.396
18	21511172	G	A	18	23931208	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	1.25897363800928E-5	0.0
18	21511172	G	C	18	23931208	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	1.25897363800928E-5	0.0
18	21511172	G	T	18	23931208	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.2239765236121E-5	0.0
18	21511173	G	A	18	23931209	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	8.55051329724361E-5	0.002
18	21511173	G	C	18	23931209	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	3.60234791078851E-5	0.0
18	21511173	G	T	18	23931209	y	n	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	3.60234791078851E-5	0.0
18	21511372	A	C	18	23931408	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.68284073685752E-5	0.004
18	21511372	A	G	18	23931408	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.68284073685752E-5	0.004
18	21511372	A	T	18	23931408	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.68284073685752E-5	0.004
18	21511373	C	A	18	23931409	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	9.57123356397867E-5	0.016
18	21511373	C	G	18	23931409	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	6.19654958573966E-5	0.034
18	21511373	C	T	18	23931409	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	9.57123356397867E-5	0.01
18	21511374	A	C	18	23931410	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.68284073685752E-5	0.004
18	21511374	A	G	18	23931410	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.68284073685752E-5	0.004
18	21511374	A	T	18	23931410	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.89484418870929E-5	0.004
18	21511375	A	C	18	23931411	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.68284073685752E-5	0.004
18	21511375	A	G	18	23931411	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.68284073685752E-5	0.004
18	21511375	A	T	18	23931411	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.89484418870929E-5	0.004
18	21511376	C	A	18	23931412	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	9.57123356397867E-5	0.03
18	21511376	C	G	18	23931412	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	6.19654958573966E-5	0.016
18	21511376	C	T	18	23931412	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	9.57123356397867E-5	0.01
18	21511377	T	A	18	23931413	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.27163650926202E-4	0.018
18	21511377	T	C	18	23931413	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	9.57123356397867E-5	0.016
18	21511377	T	G	18	23931413	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	9.57123356397867E-5	0.016
18	21511378	A	C	18	23931414	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	1.58927937202005E-5	0.002
18	21511378	A	G	18	23931414	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	1.58927937202005E-5	0.002
18	21511378	A	T	18	23931414	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	1.71486889510802E-5	0.006
18	21511379	A	C	18	23931415	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	9.57123356397867E-5	0.016
18	21511379	A	G	18	23931415	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	9.57123356397867E-5	0.016
18	21511379	A	T	18	23931415	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.27163650926202E-4	0.018
18	21511380	G	A	18	23931416	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	1.58927937202005E-5	0.002
18	21511380	G	C	18	23931416	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	1.0288925866825E-5	0.008
18	21511380	G	T	18	23931416	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	1.58927937202005E-5	0.002
18	21511381	A	C	18	23931417	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.45277156108894E-5	0.0
18	21511381	A	G	18	23931417	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	2.45277156108894E-5	0.0
18	21511381	A	T	18	23931417	n	y	intronic	LAMA3	.	.	UTR3	ENSG00000053747	.	.	3.78864525412067E-5	0.0
18	21511382	A	C	18	23931418	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000586751:exon26:c.3355-2A>C)	.	.	9.57123356397867E-5	0.016
18	21511382	A	G	18	23931418	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000586751:exon26:c.3355-2A>G)	.	.	9.57123356397867E-5	0.016
18	21511382	A	T	18	23931418	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000586751:exon26:c.3355-2A>T)	.	.	2.27163650926202E-4	0.018
18	21511383	G	A	18	23931419	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000586751:exon26:c.3355-1G>A)	.	.	9.57123356397867E-5	0.018
18	21511383	G	C	18	23931419	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000586751:exon26:c.3355-1G>C)	.	.	9.57123356397867E-5	0.018
18	21511383	G	T	18	23931419	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000586751:exon26:c.3355-1G>T)	.	.	9.57123356397867E-5	0.018
18	21511384	G	A	18	23931420	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	9.57123356397867E-5	0.01
18	21511384	G	C	18	23931420	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	9.57123356397867E-5	0.016
18	21511384	G	T	18	23931420	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	9.57123356397867E-5	0.01
18	21511385	C	A	18	23931421	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	9.57123356397867E-5	0.01
18	21511385	C	G	18	23931421	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	9.57123356397867E-5	0.016
18	21511385	C	T	18	23931421	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	9.57123356397867E-5	0.01
18	21512112	C	A	18	23932148	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.50493913909625E-4	0.022
18	21512112	C	G	18	23932148	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.05132371474958E-5	0.006
18	21512112	C	T	18	23932148	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.11708601943418E-5	0.0
18	21512113	T	A	18	23932149	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0255569225506781	0.376
18	21512113	T	C	18	23932149	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.003602071622439	0.08
18	21512113	T	G	18	23932149	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00975867305975154	0.338
18	21512114	T	A	18	23932150	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17289245084815E-4	0.018
18	21512114	T	C	18	23932150	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.30091485741611E-5	0.004
18	21512114	T	G	18	23932150	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.38514995652612E-5	0.026
18	21512115	C	A	18	23932151	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38757005999001E-4	0.01
18	21512115	C	G	18	23932151	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.18537822328095E-4	0.002
18	21512115	C	T	18	23932151	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.3516994661465E-5	0.0
18	21512116	C	A	18	23932152	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.881366470508E-5	0.004
18	21512116	C	G	18	23932152	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.02935402897534E-5	0.028
18	21512116	C	T	18	23932152	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.21934679854719E-5	0.002
18	21512117	C	A	18	23932153	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.32469033358832E-5	0.036
18	21512117	C	G	18	23932153	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.41546873219075E-5	0.026
18	21512117	C	T	18	23932153	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.52092643339585E-5	0.01
18	21512118	T	A	18	23932154	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00197730136695718	0.156
18	21512118	T	C	18	23932154	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.59206883203829E-5	0.028
18	21512118	T	G	18	23932154	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.9657538822494E-4	0.164
18	21512119	T	A	18	23932155	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0122471650174717	0.398
18	21512119	T	C	18	23932155	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00283594978332343	0.15
18	21512119	T	G	18	23932155	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00877123718436575	0.4
18	21512120	T	A	18	23932156	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.12343029802557E-5	0.002
18	21512120	T	C	18	23932156	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.11199934464745E-5	0.036
18	21512120	T	G	18	23932156	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.95632918245898E-5	0.0
18	21512121	C	A	18	23932157	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.754174739476934	0.59
18	21512121	C	G	18	23932157	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998387910170841	0.85
18	21512121	C	T	18	23932157	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.84358986552219E-4	0.034
18	21512122	A	C	18	23932158	y	y	splicing	LAMA3(NM_001127717:exon65:c.8409-2A>C;NM_198129:exon66:c.8577-2A>C;NM_001127718:exon28:c.3582-2A>C;NM_000227:exon29:c.3750-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8577-2A>C;ENST00000399516:exon65:c.8409-2A>C;ENST00000269217:exon29:c.3750-2A>C;ENST00000587184:exon28:c.3582-2A>C)	.	.	0.999969255906173	0.85
18	21512122	A	G	18	23932158	y	y	splicing	LAMA3(NM_001127717:exon65:c.8409-2A>G;NM_198129:exon66:c.8577-2A>G;NM_001127718:exon28:c.3582-2A>G;NM_000227:exon29:c.3750-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8577-2A>G;ENST00000399516:exon65:c.8409-2A>G;ENST00000269217:exon29:c.3750-2A>G;ENST00000587184:exon28:c.3582-2A>G)	.	.	0.999969255906173	0.85
18	21512122	A	T	18	23932158	y	y	splicing	LAMA3(NM_001127717:exon65:c.8409-2A>T;NM_198129:exon66:c.8577-2A>T;NM_001127718:exon28:c.3582-2A>T;NM_000227:exon29:c.3750-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8577-2A>T;ENST00000399516:exon65:c.8409-2A>T;ENST00000269217:exon29:c.3750-2A>T;ENST00000587184:exon28:c.3582-2A>T)	.	.	0.999969255906173	0.856
18	21512123	G	A	18	23932159	y	y	splicing	LAMA3(NM_001127717:exon65:c.8409-1G>A;NM_198129:exon66:c.8577-1G>A;NM_001127718:exon28:c.3582-1G>A;NM_000227:exon29:c.3750-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8577-1G>A;ENST00000399516:exon65:c.8409-1G>A;ENST00000269217:exon29:c.3750-1G>A;ENST00000587184:exon28:c.3582-1G>A)	.	.	0.999974785031454	0.884
18	21512123	G	C	18	23932159	y	y	splicing	LAMA3(NM_001127717:exon65:c.8409-1G>C;NM_198129:exon66:c.8577-1G>C;NM_001127718:exon28:c.3582-1G>C;NM_000227:exon29:c.3750-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8577-1G>C;ENST00000399516:exon65:c.8409-1G>C;ENST00000269217:exon29:c.3750-1G>C;ENST00000587184:exon28:c.3582-1G>C)	.	.	0.999974785031454	0.866
18	21512123	G	T	18	23932159	y	y	splicing	LAMA3(NM_001127717:exon65:c.8409-1G>T;NM_198129:exon66:c.8577-1G>T;NM_001127718:exon28:c.3582-1G>T;NM_000227:exon29:c.3750-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8577-1G>T;ENST00000399516:exon65:c.8409-1G>T;ENST00000269217:exon29:c.3750-1G>T;ENST00000587184:exon28:c.3582-1G>T)	.	.	0.999974785031454	0.878
18	21512124	A	C	18	23932160	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon66:c.A8577C:p.G2859G;LAMA3:NM_001127718:exon28:c.A3582C:p.G1194G;LAMA3:NM_001127717:exon65:c.A8409C:p.G2803G;LAMA3:NM_000227:exon29:c.A3750C:p.G1250G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.A3750C:p.G1250G;ENSG00000053747:ENST00000587184:exon28:c.A3582C:p.G1194G;ENSG00000053747:ENST00000399516:exon65:c.A8409C:p.G2803G;ENSG00000053747:ENST00000313654:exon66:c.A8577C:p.G2859G;	4.96227484125554E-5	0.018
18	21512124	A	G	18	23932160	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon66:c.A8577G:p.G2859G;LAMA3:NM_001127718:exon28:c.A3582G:p.G1194G;LAMA3:NM_001127717:exon65:c.A8409G:p.G2803G;LAMA3:NM_000227:exon29:c.A3750G:p.G1250G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.A3750G:p.G1250G;ENSG00000053747:ENST00000587184:exon28:c.A3582G:p.G1194G;ENSG00000053747:ENST00000399516:exon65:c.A8409G:p.G2803G;ENSG00000053747:ENST00000313654:exon66:c.A8577G:p.G2859G;	1.25599986588443E-5	0.026
18	21512124	A	T	18	23932160	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon66:c.A8577T:p.G2859G;LAMA3:NM_001127718:exon28:c.A3582T:p.G1194G;LAMA3:NM_001127717:exon65:c.A8409T:p.G2803G;LAMA3:NM_000227:exon29:c.A3750T:p.G1250G;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.A3750T:p.G1250G;ENSG00000053747:ENST00000587184:exon28:c.A3582T:p.G1194G;ENSG00000053747:ENST00000399516:exon65:c.A8409T:p.G2803G;ENSG00000053747:ENST00000313654:exon66:c.A8577T:p.G2859G;	4.99311695196362E-5	0.012
18	21512125	C	A	18	23932161	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.C8578A:p.L2860I;LAMA3:NM_001127718:exon28:c.C3583A:p.L1195I;LAMA3:NM_001127717:exon65:c.C8410A:p.L2804I;LAMA3:NM_000227:exon29:c.C3751A:p.L1251I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.C3751A:p.L1251I;ENSG00000053747:ENST00000587184:exon28:c.C3583A:p.L1195I;ENSG00000053747:ENST00000399516:exon65:c.C8410A:p.L2804I;ENSG00000053747:ENST00000313654:exon66:c.C8578A:p.L2860I;	8.73729484529417E-5	0.006
18	21512125	C	G	18	23932161	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.C8578G:p.L2860V;LAMA3:NM_001127718:exon28:c.C3583G:p.L1195V;LAMA3:NM_001127717:exon65:c.C8410G:p.L2804V;LAMA3:NM_000227:exon29:c.C3751G:p.L1251V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.C3751G:p.L1251V;ENSG00000053747:ENST00000587184:exon28:c.C3583G:p.L1195V;ENSG00000053747:ENST00000399516:exon65:c.C8410G:p.L2804V;ENSG00000053747:ENST00000313654:exon66:c.C8578G:p.L2860V;	4.63915289619741E-5	0.012
18	21512125	C	T	18	23932161	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon66:c.C8578T:p.L2860L;LAMA3:NM_001127718:exon28:c.C3583T:p.L1195L;LAMA3:NM_001127717:exon65:c.C8410T:p.L2804L;LAMA3:NM_000227:exon29:c.C3751T:p.L1251L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.C3751T:p.L1251L;ENSG00000053747:ENST00000587184:exon28:c.C3583T:p.L1195L;ENSG00000053747:ENST00000399516:exon65:c.C8410T:p.L2804L;ENSG00000053747:ENST00000313654:exon66:c.C8578T:p.L2860L;	4.62394163396008E-5	0.002
18	21512253	G	A	18	23932289	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon66:c.G8706A:p.Q2902Q;LAMA3:NM_001127718:exon28:c.G3711A:p.Q1237Q;LAMA3:NM_001127717:exon65:c.G8538A:p.Q2846Q;LAMA3:NM_000227:exon29:c.G3879A:p.Q1293Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.G3879A:p.Q1293Q;ENSG00000053747:ENST00000587184:exon28:c.G3711A:p.Q1237Q;ENSG00000053747:ENST00000399516:exon65:c.G8538A:p.Q2846Q;ENSG00000053747:ENST00000313654:exon66:c.G8706A:p.Q2902Q;	5.5570698627923E-5	0.0
18	21512253	G	C	18	23932289	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.G8706C:p.Q2902H;LAMA3:NM_001127718:exon28:c.G3711C:p.Q1237H;LAMA3:NM_001127717:exon65:c.G8538C:p.Q2846H;LAMA3:NM_000227:exon29:c.G3879C:p.Q1293H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.G3879C:p.Q1293H;ENSG00000053747:ENST00000587184:exon28:c.G3711C:p.Q1237H;ENSG00000053747:ENST00000399516:exon65:c.G8538C:p.Q2846H;ENSG00000053747:ENST00000313654:exon66:c.G8706C:p.Q2902H;	4.16120215078382E-5	0.0
18	21512253	G	T	18	23932289	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.G8706T:p.Q2902H;LAMA3:NM_001127718:exon28:c.G3711T:p.Q1237H;LAMA3:NM_001127717:exon65:c.G8538T:p.Q2846H;LAMA3:NM_000227:exon29:c.G3879T:p.Q1293H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.G3879T:p.Q1293H;ENSG00000053747:ENST00000587184:exon28:c.G3711T:p.Q1237H;ENSG00000053747:ENST00000399516:exon65:c.G8538T:p.Q2846H;ENSG00000053747:ENST00000313654:exon66:c.G8706T:p.Q2902H;	0.00104931477083105	0.128
18	21512254	A	C	18	23932290	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon66:c.A8707C:p.R2903R;LAMA3:NM_001127718:exon28:c.A3712C:p.R1238R;LAMA3:NM_001127717:exon65:c.A8539C:p.R2847R;LAMA3:NM_000227:exon29:c.A3880C:p.R1294R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.A3880C:p.R1294R;ENSG00000053747:ENST00000587184:exon28:c.A3712C:p.R1238R;ENSG00000053747:ENST00000399516:exon65:c.A8539C:p.R2847R;ENSG00000053747:ENST00000313654:exon66:c.A8707C:p.R2903R;	0.858818417637595	0.744
18	21512254	A	G	18	23932290	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.A8707G:p.R2903G;LAMA3:NM_001127718:exon28:c.A3712G:p.R1238G;LAMA3:NM_001127717:exon65:c.A8539G:p.R2847G;LAMA3:NM_000227:exon29:c.A3880G:p.R1294G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.A3880G:p.R1294G;ENSG00000053747:ENST00000587184:exon28:c.A3712G:p.R1238G;ENSG00000053747:ENST00000399516:exon65:c.A8539G:p.R2847G;ENSG00000053747:ENST00000313654:exon66:c.A8707G:p.R2903G;	0.999881480233089	0.994
18	21512254	A	T	18	23932290	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.A8707T:p.R2903W;LAMA3:NM_001127718:exon28:c.A3712T:p.R1238W;LAMA3:NM_001127717:exon65:c.A8539T:p.R2847W;LAMA3:NM_000227:exon29:c.A3880T:p.R1294W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.A3880T:p.R1294W;ENSG00000053747:ENST00000587184:exon28:c.A3712T:p.R1238W;ENSG00000053747:ENST00000399516:exon65:c.A8539T:p.R2847W;ENSG00000053747:ENST00000313654:exon66:c.A8707T:p.R2903W;	0.999814107711551	0.988
18	21512255	G	A	18	23932291	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.G8708A:p.R2903K;LAMA3:NM_001127718:exon28:c.G3713A:p.R1238K;LAMA3:NM_001127717:exon65:c.G8540A:p.R2847K;LAMA3:NM_000227:exon29:c.G3881A:p.R1294K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.G3881A:p.R1294K;ENSG00000053747:ENST00000587184:exon28:c.G3713A:p.R1238K;ENSG00000053747:ENST00000399516:exon65:c.G8540A:p.R2847K;ENSG00000053747:ENST00000313654:exon66:c.G8708A:p.R2903K;	0.999988413454336	0.996
18	21512255	G	C	18	23932291	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.G8708C:p.R2903T;LAMA3:NM_001127718:exon28:c.G3713C:p.R1238T;LAMA3:NM_001127717:exon65:c.G8540C:p.R2847T;LAMA3:NM_000227:exon29:c.G3881C:p.R1294T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.G3881C:p.R1294T;ENSG00000053747:ENST00000587184:exon28:c.G3713C:p.R1238T;ENSG00000053747:ENST00000399516:exon65:c.G8540C:p.R2847T;ENSG00000053747:ENST00000313654:exon66:c.G8708C:p.R2903T;	0.999995434196496	0.98
18	21512255	G	T	18	23932291	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon66:c.G8708T:p.R2903M;LAMA3:NM_001127718:exon28:c.G3713T:p.R1238M;LAMA3:NM_001127717:exon65:c.G8540T:p.R2847M;LAMA3:NM_000227:exon29:c.G3881T:p.R1294M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon29:c.G3881T:p.R1294M;ENSG00000053747:ENST00000587184:exon28:c.G3713T:p.R1238M;ENSG00000053747:ENST00000399516:exon65:c.G8540T:p.R2847M;ENSG00000053747:ENST00000313654:exon66:c.G8708T:p.R2903M;	0.999987936048158	0.988
18	21512256	G	A	18	23932292	y	y	splicing	LAMA3(NM_001127717:exon65:c.8540+1G>A;NM_198129:exon66:c.8708+1G>A;NM_001127718:exon28:c.3713+1G>A;NM_000227:exon29:c.3881+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8708+1G>A;ENST00000399516:exon65:c.8540+1G>A;ENST00000269217:exon29:c.3881+1G>A;ENST00000587184:exon28:c.3713+1G>A)	.	.	0.999990361384395	0.936
18	21512256	G	C	18	23932292	y	y	splicing	LAMA3(NM_001127717:exon65:c.8540+1G>C;NM_198129:exon66:c.8708+1G>C;NM_001127718:exon28:c.3713+1G>C;NM_000227:exon29:c.3881+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8708+1G>C;ENST00000399516:exon65:c.8540+1G>C;ENST00000269217:exon29:c.3881+1G>C;ENST00000587184:exon28:c.3713+1G>C)	.	.	0.999990361384395	0.936
18	21512256	G	T	18	23932292	y	y	splicing	LAMA3(NM_001127717:exon65:c.8540+1G>T;NM_198129:exon66:c.8708+1G>T;NM_001127718:exon28:c.3713+1G>T;NM_000227:exon29:c.3881+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8708+1G>T;ENST00000399516:exon65:c.8540+1G>T;ENST00000269217:exon29:c.3881+1G>T;ENST00000587184:exon28:c.3713+1G>T)	.	.	0.999990361384395	0.936
18	21512257	T	A	18	23932293	y	y	splicing	LAMA3(NM_001127717:exon65:c.8540+2T>A;NM_198129:exon66:c.8708+2T>A;NM_001127718:exon28:c.3713+2T>A;NM_000227:exon29:c.3881+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8708+2T>A;ENST00000399516:exon65:c.8540+2T>A;ENST00000269217:exon29:c.3881+2T>A;ENST00000587184:exon28:c.3713+2T>A)	.	.	0.999988247793601	0.928
18	21512257	T	C	18	23932293	y	y	splicing	LAMA3(NM_001127717:exon65:c.8540+2T>C;NM_198129:exon66:c.8708+2T>C;NM_001127718:exon28:c.3713+2T>C;NM_000227:exon29:c.3881+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8708+2T>C;ENST00000399516:exon65:c.8540+2T>C;ENST00000269217:exon29:c.3881+2T>C;ENST00000587184:exon28:c.3713+2T>C)	.	.	0.988163425542712	0.668
18	21512257	T	G	18	23932293	y	y	splicing	LAMA3(NM_001127717:exon65:c.8540+2T>G;NM_198129:exon66:c.8708+2T>G;NM_001127718:exon28:c.3713+2T>G;NM_000227:exon29:c.3881+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon66:c.8708+2T>G;ENST00000399516:exon65:c.8540+2T>G;ENST00000269217:exon29:c.3881+2T>G;ENST00000587184:exon28:c.3713+2T>G)	.	.	0.999988247793601	0.928
18	21512258	A	C	18	23932294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.834705261745266	0.58
18	21512258	A	G	18	23932294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00876054064462611	0.244
18	21512258	A	T	18	23932294	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.837105653154004	0.582
18	21512259	G	A	18	23932295	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.64004525580713E-5	0.022
18	21512259	G	C	18	23932295	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.34733690896339E-5	0.0
18	21512259	G	T	18	23932295	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.34733690896339E-5	0.0
18	21512260	G	A	18	23932296	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999428415639553	0.83
18	21512260	G	C	18	23932296	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999964518399211	0.916
18	21512260	G	T	18	23932296	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999848510850755	0.844
18	21512261	T	A	18	23932297	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00149299511996249	0.042
18	21512261	T	C	18	23932297	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00188036471870636	0.058
18	21512261	T	G	18	23932297	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.003543308164338	0.066
18	21512262	G	A	18	23932298	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.56938244579436E-5	0.006
18	21512262	G	C	18	23932298	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.33892563762343E-5	0.002
18	21512262	G	T	18	23932298	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.06449992022325E-5	0.002
18	21512263	A	C	18	23932299	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.20048985122846E-5	0.0
18	21512263	A	G	18	23932299	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.94230646384431E-5	0.0
18	21512263	A	T	18	23932299	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.79522811734558E-5	0.0
18	21513734	C	A	18	23933770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00101499679316387	0.042
18	21513734	C	G	18	23933770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.73005623907614E-4	0.024
18	21513734	C	T	18	23933770	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.24496319853231E-4	0.0
18	21513735	T	A	18	23933771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.83083829398145E-5	0.066
18	21513735	T	C	18	23933771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.09471294362986E-5	0.026
18	21513735	T	G	18	23933771	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.46642384166437E-5	0.048
18	21513736	C	A	18	23933772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.55966357202302E-4	0.03
18	21513736	C	G	18	23933772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.58058844684385E-4	0.024
18	21513736	C	T	18	23933772	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.55532661790437E-5	0.002
18	21513737	T	A	18	23933773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00132425271146502	0.08
18	21513737	T	C	18	23933773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.65507223873221E-4	0.006
18	21513737	T	G	18	23933773	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00113070186920488	0.086
18	21513738	T	A	18	23933774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.04356622249536E-5	0.012
18	21513738	T	C	18	23933774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.5073635202286E-5	0.0
18	21513738	T	G	18	23933774	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.76862875872872E-5	0.016
18	21513739	T	A	18	23933775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.98129502187403E-5	0.022
18	21513739	T	C	18	23933775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.0688818911624E-6	0.0
18	21513739	T	G	18	23933775	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.46964379106616E-5	0.01
18	21513740	T	A	18	23933776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00326516922176739	0.164
18	21513740	T	C	18	23933776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.73899156397809E-5	0.016
18	21513740	T	G	18	23933776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00375636044297156	0.11
18	21513741	T	A	18	23933777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0011108117262768	0.168
18	21513741	T	C	18	23933777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.46622761299679E-4	0.024
18	21513741	T	G	18	23933777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00390577879864392	0.218
18	21513742	C	A	18	23933778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.43256558885174E-5	0.0
18	21513742	C	G	18	23933778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.18253334356498E-5	0.0
18	21513742	C	T	18	23933778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.43256558885174E-5	0.0
18	21513743	C	A	18	23933779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.105570314933762	0.258
18	21513743	C	G	18	23933779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996315600986543	0.81
18	21513743	C	T	18	23933779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00395562624119498	0.136
18	21513744	A	C	18	23933780	y	y	splicing	LAMA3(NM_001127717:exon66:c.8541-2A>C;NM_198129:exon67:c.8709-2A>C;NM_001127718:exon29:c.3714-2A>C;NM_000227:exon30:c.3882-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8709-2A>C;ENST00000399516:exon66:c.8541-2A>C;ENST00000269217:exon30:c.3882-2A>C;ENST00000587184:exon29:c.3714-2A>C)	.	.	0.999988247793601	0.93
18	21513744	A	G	18	23933780	y	y	splicing	LAMA3(NM_001127717:exon66:c.8541-2A>G;NM_198129:exon67:c.8709-2A>G;NM_001127718:exon29:c.3714-2A>G;NM_000227:exon30:c.3882-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8709-2A>G;ENST00000399516:exon66:c.8541-2A>G;ENST00000269217:exon30:c.3882-2A>G;ENST00000587184:exon29:c.3714-2A>G)	.	.	0.999988247793601	0.93
18	21513744	A	T	18	23933780	y	y	splicing	LAMA3(NM_001127717:exon66:c.8541-2A>T;NM_198129:exon67:c.8709-2A>T;NM_001127718:exon29:c.3714-2A>T;NM_000227:exon30:c.3882-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8709-2A>T;ENST00000399516:exon66:c.8541-2A>T;ENST00000269217:exon30:c.3882-2A>T;ENST00000587184:exon29:c.3714-2A>T)	.	.	0.999988247793601	0.93
18	21513745	G	A	18	23933781	y	y	splicing	LAMA3(NM_001127717:exon66:c.8541-1G>A;NM_198129:exon67:c.8709-1G>A;NM_001127718:exon29:c.3714-1G>A;NM_000227:exon30:c.3882-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8709-1G>A;ENST00000399516:exon66:c.8541-1G>A;ENST00000269217:exon30:c.3882-1G>A;ENST00000587184:exon29:c.3714-1G>A)	.	.	0.999990361384395	0.936
18	21513745	G	C	18	23933781	y	y	splicing	LAMA3(NM_001127717:exon66:c.8541-1G>C;NM_198129:exon67:c.8709-1G>C;NM_001127718:exon29:c.3714-1G>C;NM_000227:exon30:c.3882-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8709-1G>C;ENST00000399516:exon66:c.8541-1G>C;ENST00000269217:exon30:c.3882-1G>C;ENST00000587184:exon29:c.3714-1G>C)	.	.	0.999990361384395	0.936
18	21513745	G	T	18	23933781	y	y	splicing	LAMA3(NM_001127717:exon66:c.8541-1G>T;NM_198129:exon67:c.8709-1G>T;NM_001127718:exon29:c.3714-1G>T;NM_000227:exon30:c.3882-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8709-1G>T;ENST00000399516:exon66:c.8541-1G>T;ENST00000269217:exon30:c.3882-1G>T;ENST00000587184:exon29:c.3714-1G>T)	.	.	0.999990361384395	0.936
18	21513746	G	A	18	23933782	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon67:c.G8709A:p.R2903R;LAMA3:NM_001127718:exon29:c.G3714A:p.R1238R;LAMA3:NM_001127717:exon66:c.G8541A:p.R2847R;LAMA3:NM_000227:exon30:c.G3882A:p.R1294R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.G3882A:p.R1294R;ENSG00000053747:ENST00000587184:exon29:c.G3714A:p.R1238R;ENSG00000053747:ENST00000399516:exon66:c.G8541A:p.R2847R;ENSG00000053747:ENST00000313654:exon67:c.G8709A:p.R2903R;	7.90012430858405E-4	0.156
18	21513746	G	C	18	23933782	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.G8709C:p.R2903S;LAMA3:NM_001127718:exon29:c.G3714C:p.R1238S;LAMA3:NM_001127717:exon66:c.G8541C:p.R2847S;LAMA3:NM_000227:exon30:c.G3882C:p.R1294S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.G3882C:p.R1294S;ENSG00000053747:ENST00000587184:exon29:c.G3714C:p.R1238S;ENSG00000053747:ENST00000399516:exon66:c.G8541C:p.R2847S;ENSG00000053747:ENST00000313654:exon67:c.G8709C:p.R2903S;	0.0291589156769693	0.398
18	21513746	G	T	18	23933782	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.G8709T:p.R2903S;LAMA3:NM_001127718:exon29:c.G3714T:p.R1238S;LAMA3:NM_001127717:exon66:c.G8541T:p.R2847S;LAMA3:NM_000227:exon30:c.G3882T:p.R1294S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.G3882T:p.R1294S;ENSG00000053747:ENST00000587184:exon29:c.G3714T:p.R1238S;ENSG00000053747:ENST00000399516:exon66:c.G8541T:p.R2847S;ENSG00000053747:ENST00000313654:exon67:c.G8709T:p.R2903S;	0.24003573376986	0.484
18	21513747	T	A	18	23933783	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.T8710A:p.L2904I;LAMA3:NM_001127718:exon29:c.T3715A:p.L1239I;LAMA3:NM_001127717:exon66:c.T8542A:p.L2848I;LAMA3:NM_000227:exon30:c.T3883A:p.L1295I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.T3883A:p.L1295I;ENSG00000053747:ENST00000587184:exon29:c.T3715A:p.L1239I;ENSG00000053747:ENST00000399516:exon66:c.T8542A:p.L2848I;ENSG00000053747:ENST00000313654:exon67:c.T8710A:p.L2904I;	1.3372745816103E-4	0.004
18	21513747	T	C	18	23933783	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon67:c.T8710C:p.L2904L;LAMA3:NM_001127718:exon29:c.T3715C:p.L1239L;LAMA3:NM_001127717:exon66:c.T8542C:p.L2848L;LAMA3:NM_000227:exon30:c.T3883C:p.L1295L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.T3883C:p.L1295L;ENSG00000053747:ENST00000587184:exon29:c.T3715C:p.L1239L;ENSG00000053747:ENST00000399516:exon66:c.T8542C:p.L2848L;ENSG00000053747:ENST00000313654:exon67:c.T8710C:p.L2904L;	6.57626399002286E-5	0.014
18	21513747	T	G	18	23933783	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.T8710G:p.L2904V;LAMA3:NM_001127718:exon29:c.T3715G:p.L1239V;LAMA3:NM_001127717:exon66:c.T8542G:p.L2848V;LAMA3:NM_000227:exon30:c.T3883G:p.L1295V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.T3883G:p.L1295V;ENSG00000053747:ENST00000587184:exon29:c.T3715G:p.L1239V;ENSG00000053747:ENST00000399516:exon66:c.T8542G:p.L2848V;ENSG00000053747:ENST00000313654:exon67:c.T8710G:p.L2904V;	3.14787690424715E-5	0.0
18	21513897	C	A	18	23933933	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.C8860A:p.Q2954K;LAMA3:NM_001127718:exon29:c.C3865A:p.Q1289K;LAMA3:NM_001127717:exon66:c.C8692A:p.Q2898K;LAMA3:NM_000227:exon30:c.C4033A:p.Q1345K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.C4033A:p.Q1345K;ENSG00000053747:ENST00000587184:exon29:c.C3865A:p.Q1289K;ENSG00000053747:ENST00000399516:exon66:c.C8692A:p.Q2898K;ENSG00000053747:ENST00000313654:exon67:c.C8860A:p.Q2954K;	2.07113254240012E-5	0.054
18	21513897	C	G	18	23933933	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.C8860G:p.Q2954E;LAMA3:NM_001127718:exon29:c.C3865G:p.Q1289E;LAMA3:NM_001127717:exon66:c.C8692G:p.Q2898E;LAMA3:NM_000227:exon30:c.C4033G:p.Q1345E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.C4033G:p.Q1345E;ENSG00000053747:ENST00000587184:exon29:c.C3865G:p.Q1289E;ENSG00000053747:ENST00000399516:exon66:c.C8692G:p.Q2898E;ENSG00000053747:ENST00000313654:exon67:c.C8860G:p.Q2954E;	3.32349363426451E-5	0.028
18	21513897	C	T	18	23933933	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon67:c.C8860T:p.Q2954X;LAMA3:NM_001127718:exon29:c.C3865T:p.Q1289X;LAMA3:NM_001127717:exon66:c.C8692T:p.Q2898X;LAMA3:NM_000227:exon30:c.C4033T:p.Q1345X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon30:c.C4033T:p.Q1345X;ENSG00000053747:ENST00000587184:exon29:c.C3865T:p.Q1289X;ENSG00000053747:ENST00000399516:exon66:c.C8692T:p.Q2898X;ENSG00000053747:ENST00000313654:exon67:c.C8860T:p.Q2954X;	0.0192158351162647	0.362
18	21513898	A	C	18	23933934	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.A8861C:p.Q2954P;LAMA3:NM_001127718:exon29:c.A3866C:p.Q1289P;LAMA3:NM_001127717:exon66:c.A8693C:p.Q2898P;LAMA3:NM_000227:exon30:c.A4034C:p.Q1345P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.A4034C:p.Q1345P;ENSG00000053747:ENST00000587184:exon29:c.A3866C:p.Q1289P;ENSG00000053747:ENST00000399516:exon66:c.A8693C:p.Q2898P;ENSG00000053747:ENST00000313654:exon67:c.A8861C:p.Q2954P;	0.0164231358136768	0.33
18	21513898	A	G	18	23933934	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.A8861G:p.Q2954R;LAMA3:NM_001127718:exon29:c.A3866G:p.Q1289R;LAMA3:NM_001127717:exon66:c.A8693G:p.Q2898R;LAMA3:NM_000227:exon30:c.A4034G:p.Q1345R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.A4034G:p.Q1345R;ENSG00000053747:ENST00000587184:exon29:c.A3866G:p.Q1289R;ENSG00000053747:ENST00000399516:exon66:c.A8693G:p.Q2898R;ENSG00000053747:ENST00000313654:exon67:c.A8861G:p.Q2954R;	0.0203339961468678	0.258
18	21513898	A	T	18	23933934	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.A8861T:p.Q2954L;LAMA3:NM_001127718:exon29:c.A3866T:p.Q1289L;LAMA3:NM_001127717:exon66:c.A8693T:p.Q2898L;LAMA3:NM_000227:exon30:c.A4034T:p.Q1345L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.A4034T:p.Q1345L;ENSG00000053747:ENST00000587184:exon29:c.A3866T:p.Q1289L;ENSG00000053747:ENST00000399516:exon66:c.A8693T:p.Q2898L;ENSG00000053747:ENST00000313654:exon67:c.A8861T:p.Q2954L;	0.018906994518151	0.328
18	21513899	G	A	18	23933935	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon67:c.G8862A:p.Q2954Q;LAMA3:NM_001127718:exon29:c.G3867A:p.Q1289Q;LAMA3:NM_001127717:exon66:c.G8694A:p.Q2898Q;LAMA3:NM_000227:exon30:c.G4035A:p.Q1345Q;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.G4035A:p.Q1345Q;ENSG00000053747:ENST00000587184:exon29:c.G3867A:p.Q1289Q;ENSG00000053747:ENST00000399516:exon66:c.G8694A:p.Q2898Q;ENSG00000053747:ENST00000313654:exon67:c.G8862A:p.Q2954Q;	0.214988864787277	0.352
18	21513899	G	C	18	23933935	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.G8862C:p.Q2954H;LAMA3:NM_001127718:exon29:c.G3867C:p.Q1289H;LAMA3:NM_001127717:exon66:c.G8694C:p.Q2898H;LAMA3:NM_000227:exon30:c.G4035C:p.Q1345H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.G4035C:p.Q1345H;ENSG00000053747:ENST00000587184:exon29:c.G3867C:p.Q1289H;ENSG00000053747:ENST00000399516:exon66:c.G8694C:p.Q2898H;ENSG00000053747:ENST00000313654:exon67:c.G8862C:p.Q2954H;	0.374310986871574	0.408
18	21513899	G	T	18	23933935	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon67:c.G8862T:p.Q2954H;LAMA3:NM_001127718:exon29:c.G3867T:p.Q1289H;LAMA3:NM_001127717:exon66:c.G8694T:p.Q2898H;LAMA3:NM_000227:exon30:c.G4035T:p.Q1345H;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon30:c.G4035T:p.Q1345H;ENSG00000053747:ENST00000587184:exon29:c.G3867T:p.Q1289H;ENSG00000053747:ENST00000399516:exon66:c.G8694T:p.Q2898H;ENSG00000053747:ENST00000313654:exon67:c.G8862T:p.Q2954H;	0.574280237569255	0.406
18	21513900	G	A	18	23933936	y	y	splicing	LAMA3(NM_001127717:exon66:c.8694+1G>A;NM_198129:exon67:c.8862+1G>A;NM_001127718:exon29:c.3867+1G>A;NM_000227:exon30:c.4035+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8862+1G>A;ENST00000399516:exon66:c.8694+1G>A;ENST00000269217:exon30:c.4035+1G>A;ENST00000587184:exon29:c.3867+1G>A)	.	.	0.999976475802857	0.91
18	21513900	G	C	18	23933936	y	y	splicing	LAMA3(NM_001127717:exon66:c.8694+1G>C;NM_198129:exon67:c.8862+1G>C;NM_001127718:exon29:c.3867+1G>C;NM_000227:exon30:c.4035+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8862+1G>C;ENST00000399516:exon66:c.8694+1G>C;ENST00000269217:exon30:c.4035+1G>C;ENST00000587184:exon29:c.3867+1G>C)	.	.	0.99997775019564	0.904
18	21513900	G	T	18	23933936	y	y	splicing	LAMA3(NM_001127717:exon66:c.8694+1G>T;NM_198129:exon67:c.8862+1G>T;NM_001127718:exon29:c.3867+1G>T;NM_000227:exon30:c.4035+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8862+1G>T;ENST00000399516:exon66:c.8694+1G>T;ENST00000269217:exon30:c.4035+1G>T;ENST00000587184:exon29:c.3867+1G>T)	.	.	0.999976475802857	0.908
18	21513901	T	A	18	23933937	y	y	splicing	LAMA3(NM_001127717:exon66:c.8694+2T>A;NM_198129:exon67:c.8862+2T>A;NM_001127718:exon29:c.3867+2T>A;NM_000227:exon30:c.4035+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8862+2T>A;ENST00000399516:exon66:c.8694+2T>A;ENST00000269217:exon30:c.4035+2T>A;ENST00000587184:exon29:c.3867+2T>A)	.	.	0.999895169887144	0.842
18	21513901	T	C	18	23933937	y	y	splicing	LAMA3(NM_001127717:exon66:c.8694+2T>C;NM_198129:exon67:c.8862+2T>C;NM_001127718:exon29:c.3867+2T>C;NM_000227:exon30:c.4035+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8862+2T>C;ENST00000399516:exon66:c.8694+2T>C;ENST00000269217:exon30:c.4035+2T>C;ENST00000587184:exon29:c.3867+2T>C)	.	.	0.909353195160147	0.572
18	21513901	T	G	18	23933937	y	y	splicing	LAMA3(NM_001127717:exon66:c.8694+2T>G;NM_198129:exon67:c.8862+2T>G;NM_001127718:exon29:c.3867+2T>G;NM_000227:exon30:c.4035+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon67:c.8862+2T>G;ENST00000399516:exon66:c.8694+2T>G;ENST00000269217:exon30:c.4035+2T>G;ENST00000587184:exon29:c.3867+2T>G)	.	.	0.999871793741964	0.802
18	21513902	A	C	18	23933938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.235116755637179	0.49
18	21513902	A	G	18	23933938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.82808447937302E-4	0.076
18	21513902	A	T	18	23933938	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0569294704927985	0.466
18	21513903	A	C	18	23933939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.148470846985248	0.354
18	21513903	A	G	18	23933939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.294894894717609	0.414
18	21513903	A	T	18	23933939	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.240385984669042	0.344
18	21513904	G	A	18	23933940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.873643800965766	0.472
18	21513904	G	C	18	23933940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.915295019877429	0.448
18	21513904	G	T	18	23933940	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.972110990993767	0.54
18	21513905	T	A	18	23933941	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.86866898591725E-4	0.038
18	21513905	T	C	18	23933941	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00176626354813397	0.036
18	21513905	T	G	18	23933941	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.96083072720602E-5	0.034
18	21513906	G	A	18	23933942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.15941453541388E-5	0.0
18	21513906	G	C	18	23933942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.15941453541388E-5	0.002
18	21513906	G	T	18	23933942	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.15941453541388E-5	0.0
18	21513907	T	A	18	23933943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00125351434888014	0.004
18	21513907	T	C	18	23933943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00121043149379211	0.016
18	21513907	T	G	18	23933943	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00121043149379211	0.012
18	21519175	T	A	18	23939211	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00193460846653388	0.194
18	21519175	T	C	18	23939211	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.98402019903107E-4	0.008
18	21519175	T	G	18	23939211	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00571613457192778	0.176
18	21519176	T	A	18	23939212	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00118771032847751	0.146
18	21519176	T	C	18	23939212	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.5784221156832E-4	0.002
18	21519176	T	G	18	23939212	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.84180716213773E-4	0.062
18	21519177	T	A	18	23939213	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00393668741068695	0.156
18	21519177	T	C	18	23939213	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.32878624223984E-4	0.11
18	21519177	T	G	18	23939213	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00137995921439495	0.07
18	21519178	C	A	18	23939214	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00375025141008601	0.108
18	21519178	C	G	18	23939214	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00200963476108375	0.098
18	21519178	C	T	18	23939214	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.97799638761624E-5	0.018
18	21519179	C	A	18	23939215	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00192025989311857	0.03
18	21519179	C	G	18	23939215	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00595396040087817	0.042
18	21519179	C	T	18	23939215	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.38851414741462E-5	0.0
18	21519180	C	A	18	23939216	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00116322364069052	0.032
18	21519180	C	G	18	23939216	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00116322364069052	0.028
18	21519180	C	T	18	23939216	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.60387675891651E-5	0.0
18	21519181	A	C	18	23939217	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.12877220444828E-5	0.006
18	21519181	A	G	18	23939217	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.20970807757152E-5	0.002
18	21519181	A	T	18	23939217	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.05474683730017E-4	0.0
18	21519182	T	A	18	23939218	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.935002365093825	0.714
18	21519182	T	C	18	23939218	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.70474346293637E-5	0.002
18	21519182	T	G	18	23939218	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9435806794162	0.7
18	21519183	G	A	18	23939219	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.60754846937727E-5	0.0
18	21519183	G	C	18	23939219	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.89514495014485E-5	0.0
18	21519183	G	T	18	23939219	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.70746316998117E-5	0.002
18	21519184	C	A	18	23939220	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996790109761359	0.882
18	21519184	C	G	18	23939220	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999702651579311	0.958
18	21519184	C	T	18	23939220	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.020520420984598	0.22
18	21519185	A	C	18	23939221	y	y	splicing	LAMA3(NM_001127717:exon67:c.8695-2A>C;NM_198129:exon68:c.8863-2A>C;NM_001127718:exon30:c.3868-2A>C;NM_000227:exon31:c.4036-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.8863-2A>C;ENST00000399516:exon67:c.8695-2A>C;ENST00000269217:exon31:c.4036-2A>C;ENST00000587184:exon30:c.3868-2A>C)	.	.	0.99994568797423	0.944
18	21519185	A	G	18	23939221	y	y	splicing	LAMA3(NM_001127717:exon67:c.8695-2A>G;NM_198129:exon68:c.8863-2A>G;NM_001127718:exon30:c.3868-2A>G;NM_000227:exon31:c.4036-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.8863-2A>G;ENST00000399516:exon67:c.8695-2A>G;ENST00000269217:exon31:c.4036-2A>G;ENST00000587184:exon30:c.3868-2A>G)	.	.	0.99994568797423	0.944
18	21519185	A	T	18	23939221	y	y	splicing	LAMA3(NM_001127717:exon67:c.8695-2A>T;NM_198129:exon68:c.8863-2A>T;NM_001127718:exon30:c.3868-2A>T;NM_000227:exon31:c.4036-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.8863-2A>T;ENST00000399516:exon67:c.8695-2A>T;ENST00000269217:exon31:c.4036-2A>T;ENST00000587184:exon30:c.3868-2A>T)	.	.	0.99994568797423	0.938
18	21519186	G	A	18	23939222	y	y	splicing	LAMA3(NM_001127717:exon67:c.8695-1G>A;NM_198129:exon68:c.8863-1G>A;NM_001127718:exon30:c.3868-1G>A;NM_000227:exon31:c.4036-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.8863-1G>A;ENST00000399516:exon67:c.8695-1G>A;ENST00000269217:exon31:c.4036-1G>A;ENST00000587184:exon30:c.3868-1G>A)	.	.	0.999938422912956	0.93
18	21519186	G	C	18	23939222	y	y	splicing	LAMA3(NM_001127717:exon67:c.8695-1G>C;NM_198129:exon68:c.8863-1G>C;NM_001127718:exon30:c.3868-1G>C;NM_000227:exon31:c.4036-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.8863-1G>C;ENST00000399516:exon67:c.8695-1G>C;ENST00000269217:exon31:c.4036-1G>C;ENST00000587184:exon30:c.3868-1G>C)	.	.	0.999938422912956	0.942
18	21519186	G	T	18	23939222	y	y	splicing	LAMA3(NM_001127717:exon67:c.8695-1G>T;NM_198129:exon68:c.8863-1G>T;NM_001127718:exon30:c.3868-1G>T;NM_000227:exon31:c.4036-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.8863-1G>T;ENST00000399516:exon67:c.8695-1G>T;ENST00000269217:exon31:c.4036-1G>T;ENST00000587184:exon30:c.3868-1G>T)	.	.	0.999938422912956	0.942
18	21519187	C	A	18	23939223	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.C8863A:p.L2955M;LAMA3:NM_001127718:exon30:c.C3868A:p.L1290M;LAMA3:NM_001127717:exon67:c.C8695A:p.L2899M;LAMA3:NM_000227:exon31:c.C4036A:p.L1346M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.C4036A:p.L1346M;ENSG00000053747:ENST00000587184:exon30:c.C3868A:p.L1290M;ENSG00000053747:ENST00000399516:exon67:c.C8695A:p.L2899M;ENSG00000053747:ENST00000313654:exon68:c.C8863A:p.L2955M;	4.76867928407989E-4	0.064
18	21519187	C	G	18	23939223	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.C8863G:p.L2955V;LAMA3:NM_001127718:exon30:c.C3868G:p.L1290V;LAMA3:NM_001127717:exon67:c.C8695G:p.L2899V;LAMA3:NM_000227:exon31:c.C4036G:p.L1346V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.C4036G:p.L1346V;ENSG00000053747:ENST00000587184:exon30:c.C3868G:p.L1290V;ENSG00000053747:ENST00000399516:exon67:c.C8695G:p.L2899V;ENSG00000053747:ENST00000313654:exon68:c.C8863G:p.L2955V;	5.18926642898109E-4	0.224
18	21519187	C	T	18	23939223	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon68:c.C8863T:p.L2955L;LAMA3:NM_001127718:exon30:c.C3868T:p.L1290L;LAMA3:NM_001127717:exon67:c.C8695T:p.L2899L;LAMA3:NM_000227:exon31:c.C4036T:p.L1346L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.C4036T:p.L1346L;ENSG00000053747:ENST00000587184:exon30:c.C3868T:p.L1290L;ENSG00000053747:ENST00000399516:exon67:c.C8695T:p.L2899L;ENSG00000053747:ENST00000313654:exon68:c.C8863T:p.L2955L;	8.95147939364495E-4	0.264
18	21519188	T	A	18	23939224	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.T8864A:p.L2955Q;LAMA3:NM_001127718:exon30:c.T3869A:p.L1290Q;LAMA3:NM_001127717:exon67:c.T8696A:p.L2899Q;LAMA3:NM_000227:exon31:c.T4037A:p.L1346Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.T4037A:p.L1346Q;ENSG00000053747:ENST00000587184:exon30:c.T3869A:p.L1290Q;ENSG00000053747:ENST00000399516:exon67:c.T8696A:p.L2899Q;ENSG00000053747:ENST00000313654:exon68:c.T8864A:p.L2955Q;	1.27393342603345E-4	0.146
18	21519188	T	C	18	23939224	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.T8864C:p.L2955P;LAMA3:NM_001127718:exon30:c.T3869C:p.L1290P;LAMA3:NM_001127717:exon67:c.T8696C:p.L2899P;LAMA3:NM_000227:exon31:c.T4037C:p.L1346P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.T4037C:p.L1346P;ENSG00000053747:ENST00000587184:exon30:c.T3869C:p.L1290P;ENSG00000053747:ENST00000399516:exon67:c.T8696C:p.L2899P;ENSG00000053747:ENST00000313654:exon68:c.T8864C:p.L2955P;	0.0013587383070324	0.25
18	21519188	T	G	18	23939224	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.T8864G:p.L2955R;LAMA3:NM_001127718:exon30:c.T3869G:p.L1290R;LAMA3:NM_001127717:exon67:c.T8696G:p.L2899R;LAMA3:NM_000227:exon31:c.T4037G:p.L1346R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.T4037G:p.L1346R;ENSG00000053747:ENST00000587184:exon30:c.T3869G:p.L1290R;ENSG00000053747:ENST00000399516:exon67:c.T8696G:p.L2899R;ENSG00000053747:ENST00000313654:exon68:c.T8864G:p.L2955R;	1.24383257831926E-4	0.148
18	21519348	C	A	18	23939384	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon68:c.C9024A:p.P3008P;LAMA3:NM_001127718:exon30:c.C4029A:p.P1343P;LAMA3:NM_001127717:exon67:c.C8856A:p.P2952P;LAMA3:NM_000227:exon31:c.C4197A:p.P1399P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.C4197A:p.P1399P;ENSG00000053747:ENST00000587184:exon30:c.C4029A:p.P1343P;ENSG00000053747:ENST00000399516:exon67:c.C8856A:p.P2952P;ENSG00000053747:ENST00000313654:exon68:c.C9024A:p.P3008P;	5.68527597502351E-4	0.018
18	21519348	C	G	18	23939384	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon68:c.C9024G:p.P3008P;LAMA3:NM_001127718:exon30:c.C4029G:p.P1343P;LAMA3:NM_001127717:exon67:c.C8856G:p.P2952P;LAMA3:NM_000227:exon31:c.C4197G:p.P1399P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.C4197G:p.P1399P;ENSG00000053747:ENST00000587184:exon30:c.C4029G:p.P1343P;ENSG00000053747:ENST00000399516:exon67:c.C8856G:p.P2952P;ENSG00000053747:ENST00000313654:exon68:c.C9024G:p.P3008P;	3.48743069498649E-4	0.156
18	21519348	C	T	18	23939384	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon68:c.C9024T:p.P3008P;LAMA3:NM_001127718:exon30:c.C4029T:p.P1343P;LAMA3:NM_001127717:exon67:c.C8856T:p.P2952P;LAMA3:NM_000227:exon31:c.C4197T:p.P1399P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.C4197T:p.P1399P;ENSG00000053747:ENST00000587184:exon30:c.C4029T:p.P1343P;ENSG00000053747:ENST00000399516:exon67:c.C8856T:p.P2952P;ENSG00000053747:ENST00000313654:exon68:c.C9024T:p.P3008P;	0.370457455067279	0.496
18	21519349	A	C	18	23939385	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon68:c.A9025C:p.R3009R;LAMA3:NM_001127718:exon30:c.A4030C:p.R1344R;LAMA3:NM_001127717:exon67:c.A8857C:p.R2953R;LAMA3:NM_000227:exon31:c.A4198C:p.R1400R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.A4198C:p.R1400R;ENSG00000053747:ENST00000587184:exon30:c.A4030C:p.R1344R;ENSG00000053747:ENST00000399516:exon67:c.A8857C:p.R2953R;ENSG00000053747:ENST00000313654:exon68:c.A9025C:p.R3009R;	0.990371949273666	0.81
18	21519349	A	G	18	23939385	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.A9025G:p.R3009G;LAMA3:NM_001127718:exon30:c.A4030G:p.R1344G;LAMA3:NM_001127717:exon67:c.A8857G:p.R2953G;LAMA3:NM_000227:exon31:c.A4198G:p.R1400G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.A4198G:p.R1400G;ENSG00000053747:ENST00000587184:exon30:c.A4030G:p.R1344G;ENSG00000053747:ENST00000399516:exon67:c.A8857G:p.R2953G;ENSG00000053747:ENST00000313654:exon68:c.A9025G:p.R3009G;	0.999861556146674	0.998
18	21519349	A	T	18	23939385	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.A9025T:p.R3009W;LAMA3:NM_001127718:exon30:c.A4030T:p.R1344W;LAMA3:NM_001127717:exon67:c.A8857T:p.R2953W;LAMA3:NM_000227:exon31:c.A4198T:p.R1400W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.A4198T:p.R1400W;ENSG00000053747:ENST00000587184:exon30:c.A4030T:p.R1344W;ENSG00000053747:ENST00000399516:exon67:c.A8857T:p.R2953W;ENSG00000053747:ENST00000313654:exon68:c.A9025T:p.R3009W;	0.999952172340817	1.0
18	21519350	G	A	18	23939386	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.G9026A:p.R3009K;LAMA3:NM_001127718:exon30:c.G4031A:p.R1344K;LAMA3:NM_001127717:exon67:c.G8858A:p.R2953K;LAMA3:NM_000227:exon31:c.G4199A:p.R1400K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.G4199A:p.R1400K;ENSG00000053747:ENST00000587184:exon30:c.G4031A:p.R1344K;ENSG00000053747:ENST00000399516:exon67:c.G8858A:p.R2953K;ENSG00000053747:ENST00000313654:exon68:c.G9026A:p.R3009K;	0.999992848648547	0.99
18	21519350	G	C	18	23939386	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.G9026C:p.R3009T;LAMA3:NM_001127718:exon30:c.G4031C:p.R1344T;LAMA3:NM_001127717:exon67:c.G8858C:p.R2953T;LAMA3:NM_000227:exon31:c.G4199C:p.R1400T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.G4199C:p.R1400T;ENSG00000053747:ENST00000587184:exon30:c.G4031C:p.R1344T;ENSG00000053747:ENST00000399516:exon67:c.G8858C:p.R2953T;ENSG00000053747:ENST00000313654:exon68:c.G9026C:p.R3009T;	0.999997627706868	1.0
18	21519350	G	T	18	23939386	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon68:c.G9026T:p.R3009M;LAMA3:NM_001127718:exon30:c.G4031T:p.R1344M;LAMA3:NM_001127717:exon67:c.G8858T:p.R2953M;LAMA3:NM_000227:exon31:c.G4199T:p.R1400M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon31:c.G4199T:p.R1400M;ENSG00000053747:ENST00000587184:exon30:c.G4031T:p.R1344M;ENSG00000053747:ENST00000399516:exon67:c.G8858T:p.R2953M;ENSG00000053747:ENST00000313654:exon68:c.G9026T:p.R3009M;	0.999992581621154	0.998
18	21519351	G	A	18	23939387	y	y	splicing	LAMA3(NM_001127717:exon67:c.8858+1G>A;NM_198129:exon68:c.9026+1G>A;NM_001127718:exon30:c.4031+1G>A;NM_000227:exon31:c.4199+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.9026+1G>A;ENST00000399516:exon67:c.8858+1G>A;ENST00000269217:exon31:c.4199+1G>A;ENST00000587184:exon30:c.4031+1G>A)	.	.	0.999986675681007	0.934
18	21519351	G	C	18	23939387	y	y	splicing	LAMA3(NM_001127717:exon67:c.8858+1G>C;NM_198129:exon68:c.9026+1G>C;NM_001127718:exon30:c.4031+1G>C;NM_000227:exon31:c.4199+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.9026+1G>C;ENST00000399516:exon67:c.8858+1G>C;ENST00000269217:exon31:c.4199+1G>C;ENST00000587184:exon30:c.4031+1G>C)	.	.	0.999986675681007	0.934
18	21519351	G	T	18	23939387	y	y	splicing	LAMA3(NM_001127717:exon67:c.8858+1G>T;NM_198129:exon68:c.9026+1G>T;NM_001127718:exon30:c.4031+1G>T;NM_000227:exon31:c.4199+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.9026+1G>T;ENST00000399516:exon67:c.8858+1G>T;ENST00000269217:exon31:c.4199+1G>T;ENST00000587184:exon30:c.4031+1G>T)	.	.	0.999986675681007	0.934
18	21519352	T	A	18	23939388	y	y	splicing	LAMA3(NM_001127717:exon67:c.8858+2T>A;NM_198129:exon68:c.9026+2T>A;NM_001127718:exon30:c.4031+2T>A;NM_000227:exon31:c.4199+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.9026+2T>A;ENST00000399516:exon67:c.8858+2T>A;ENST00000269217:exon31:c.4199+2T>A;ENST00000587184:exon30:c.4031+2T>A)	.	.	0.999989917668626	0.928
18	21519352	T	C	18	23939388	y	y	splicing	LAMA3(NM_001127717:exon67:c.8858+2T>C;NM_198129:exon68:c.9026+2T>C;NM_001127718:exon30:c.4031+2T>C;NM_000227:exon31:c.4199+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.9026+2T>C;ENST00000399516:exon67:c.8858+2T>C;ENST00000269217:exon31:c.4199+2T>C;ENST00000587184:exon30:c.4031+2T>C)	.	.	0.990751351621101	0.606
18	21519352	T	G	18	23939388	y	y	splicing	LAMA3(NM_001127717:exon67:c.8858+2T>G;NM_198129:exon68:c.9026+2T>G;NM_001127718:exon30:c.4031+2T>G;NM_000227:exon31:c.4199+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon68:c.9026+2T>G;ENST00000399516:exon67:c.8858+2T>G;ENST00000269217:exon31:c.4199+2T>G;ENST00000587184:exon30:c.4031+2T>G)	.	.	0.999989917668626	0.928
18	21519353	A	C	18	23939389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99994563848976	0.958
18	21519353	A	G	18	23939389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999881244187672	0.988
18	21519353	A	T	18	23939389	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999935977043449	0.978
18	21519354	T	A	18	23939390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.40509385628072E-5	0.03
18	21519354	T	C	18	23939390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.24161959081296E-4	0.072
18	21519354	T	G	18	23939390	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.93318656112172E-4	0.036
18	21519355	T	A	18	23939391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.71964088231065E-4	0.006
18	21519355	T	C	18	23939391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.66463280720974E-5	0.01
18	21519355	T	G	18	23939391	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.17936930679009E-4	0.046
18	21519356	A	C	18	23939392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00258378654535294	0.082
18	21519356	A	G	18	23939392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.0707229526383E-5	0.004
18	21519356	A	T	18	23939392	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.39001870038468E-4	0.216
18	21519357	T	A	18	23939393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.28838071469856E-4	0.006
18	21519357	T	C	18	23939393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.9285785083491E-4	0.01
18	21519357	T	G	18	23939393	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.43164827686266E-4	0.032
18	21519358	T	A	18	23939394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.49151221838009E-5	0.018
18	21519358	T	C	18	23939394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.45312670362387E-4	0.004
18	21519358	T	G	18	23939394	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.38909569989128E-4	0.062
18	21523740	T	A	18	23943776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999946856738361	0.984
18	21523740	T	C	18	23943776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.13491525579651E-4	0.02
18	21523740	T	G	18	23943776	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999796456658076	0.972
18	21523741	G	A	18	23943777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.52923199276526E-5	0.012
18	21523741	G	C	18	23943777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.12733911548712E-5	0.0
18	21523741	G	T	18	23943777	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.49847293718002E-5	0.0
18	21523742	T	A	18	23943778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0760230071382668	0.316
18	21523742	T	C	18	23943778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.82971531638333E-4	0.018
18	21523742	T	G	18	23943778	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0181530135638263	0.32
18	21523743	T	A	18	23943779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0113682586273539	0.094
18	21523743	T	C	18	23943779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.15271499930012E-4	0.016
18	21523743	T	G	18	23943779	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00548398949417122	0.074
18	21523744	C	A	18	23943780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00144033183821884	0.036
18	21523744	C	G	18	23943780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00500949412948981	0.052
18	21523744	C	T	18	23943780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.43971715168111E-5	0.07
18	21523745	C	A	18	23943781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00150815251059282	0.084
18	21523745	C	G	18	23943781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00148220146078062	0.112
18	21523745	C	T	18	23943781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.34640435533814E-5	0.0
18	21523746	C	A	18	23943782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00144164199042859	0.204
18	21523746	C	G	18	23943782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0069528677065605	0.272
18	21523746	C	T	18	23943782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.22216627312046E-5	0.004
18	21523747	A	C	18	23943783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.91683211707006E-5	0.0
18	21523747	A	G	18	23943783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.30477579161392E-5	0.004
18	21523747	A	T	18	23943783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.91683211707006E-5	0.0
18	21523748	A	C	18	23943784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.39988487175559E-5	0.006
18	21523748	A	G	18	23943784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.851384101896216	0.71
18	21523748	A	T	18	23943784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.06285673746577E-4	0.042
18	21523749	C	A	18	23943785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.993037573889492	0.742
18	21523749	C	G	18	23943785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999884911516292	0.926
18	21523749	C	T	18	23943785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00249140905281154	0.082
18	21523750	A	C	18	23943786	y	y	splicing	LAMA3(NM_001127717:exon68:c.8859-2A>C;NM_198129:exon69:c.9027-2A>C;NM_001127718:exon31:c.4032-2A>C;NM_000227:exon32:c.4200-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9027-2A>C;ENST00000399516:exon68:c.8859-2A>C;ENST00000269217:exon32:c.4200-2A>C;ENST00000587184:exon31:c.4032-2A>C)	.	.	0.999807633235587	0.714
18	21523750	A	G	18	23943786	y	y	splicing	LAMA3(NM_001127717:exon68:c.8859-2A>G;NM_198129:exon69:c.9027-2A>G;NM_001127718:exon31:c.4032-2A>G;NM_000227:exon32:c.4200-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9027-2A>G;ENST00000399516:exon68:c.8859-2A>G;ENST00000269217:exon32:c.4200-2A>G;ENST00000587184:exon31:c.4032-2A>G)	.	.	0.999807633235587	0.718
18	21523750	A	T	18	23943786	y	y	splicing	LAMA3(NM_001127717:exon68:c.8859-2A>T;NM_198129:exon69:c.9027-2A>T;NM_001127718:exon31:c.4032-2A>T;NM_000227:exon32:c.4200-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9027-2A>T;ENST00000399516:exon68:c.8859-2A>T;ENST00000269217:exon32:c.4200-2A>T;ENST00000587184:exon31:c.4032-2A>T)	.	.	0.999807633235587	0.748
18	21523751	G	A	18	23943787	y	y	splicing	LAMA3(NM_001127717:exon68:c.8859-1G>A;NM_198129:exon69:c.9027-1G>A;NM_001127718:exon31:c.4032-1G>A;NM_000227:exon32:c.4200-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9027-1G>A;ENST00000399516:exon68:c.8859-1G>A;ENST00000269217:exon32:c.4200-1G>A;ENST00000587184:exon31:c.4032-1G>A)	.	.	0.999980401333521	0.798
18	21523751	G	C	18	23943787	y	y	splicing	LAMA3(NM_001127717:exon68:c.8859-1G>C;NM_198129:exon69:c.9027-1G>C;NM_001127718:exon31:c.4032-1G>C;NM_000227:exon32:c.4200-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9027-1G>C;ENST00000399516:exon68:c.8859-1G>C;ENST00000269217:exon32:c.4200-1G>C;ENST00000587184:exon31:c.4032-1G>C)	.	.	0.999989553331972	0.776
18	21523751	G	T	18	23943787	y	y	splicing	LAMA3(NM_001127717:exon68:c.8859-1G>T;NM_198129:exon69:c.9027-1G>T;NM_001127718:exon31:c.4032-1G>T;NM_000227:exon32:c.4200-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9027-1G>T;ENST00000399516:exon68:c.8859-1G>T;ENST00000269217:exon32:c.4200-1G>T;ENST00000587184:exon31:c.4032-1G>T)	.	.	0.999989553331972	0.79
18	21523752	G	A	18	23943788	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon69:c.G9027A:p.R3009R;LAMA3:NM_001127718:exon31:c.G4032A:p.R1344R;LAMA3:NM_001127717:exon68:c.G8859A:p.R2953R;LAMA3:NM_000227:exon32:c.G4200A:p.R1400R;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.G4200A:p.R1400R;ENSG00000053747:ENST00000587184:exon31:c.G4032A:p.R1344R;ENSG00000053747:ENST00000399516:exon68:c.G8859A:p.R2953R;ENSG00000053747:ENST00000313654:exon69:c.G9027A:p.R3009R;	0.0604701185964757	0.33
18	21523752	G	C	18	23943788	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.G9027C:p.R3009S;LAMA3:NM_001127718:exon31:c.G4032C:p.R1344S;LAMA3:NM_001127717:exon68:c.G8859C:p.R2953S;LAMA3:NM_000227:exon32:c.G4200C:p.R1400S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.G4200C:p.R1400S;ENSG00000053747:ENST00000587184:exon31:c.G4032C:p.R1344S;ENSG00000053747:ENST00000399516:exon68:c.G8859C:p.R2953S;ENSG00000053747:ENST00000313654:exon69:c.G9027C:p.R3009S;	0.986549358795719	0.864
18	21523752	G	T	18	23943788	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.G9027T:p.R3009S;LAMA3:NM_001127718:exon31:c.G4032T:p.R1344S;LAMA3:NM_001127717:exon68:c.G8859T:p.R2953S;LAMA3:NM_000227:exon32:c.G4200T:p.R1400S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.G4200T:p.R1400S;ENSG00000053747:ENST00000587184:exon31:c.G4032T:p.R1344S;ENSG00000053747:ENST00000399516:exon68:c.G8859T:p.R2953S;ENSG00000053747:ENST00000313654:exon69:c.G9027T:p.R3009S;	0.990415362817175	0.956
18	21523753	T	A	18	23943789	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.T9028A:p.S3010T;LAMA3:NM_001127718:exon31:c.T4033A:p.S1345T;LAMA3:NM_001127717:exon68:c.T8860A:p.S2954T;LAMA3:NM_000227:exon32:c.T4201A:p.S1401T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.T4201A:p.S1401T;ENSG00000053747:ENST00000587184:exon31:c.T4033A:p.S1345T;ENSG00000053747:ENST00000399516:exon68:c.T8860A:p.S2954T;ENSG00000053747:ENST00000313654:exon69:c.T9028A:p.S3010T;	2.67468022347724E-4	0.112
18	21523753	T	C	18	23943789	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.T9028C:p.S3010P;LAMA3:NM_001127718:exon31:c.T4033C:p.S1345P;LAMA3:NM_001127717:exon68:c.T8860C:p.S2954P;LAMA3:NM_000227:exon32:c.T4201C:p.S1401P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.T4201C:p.S1401P;ENSG00000053747:ENST00000587184:exon31:c.T4033C:p.S1345P;ENSG00000053747:ENST00000399516:exon68:c.T8860C:p.S2954P;ENSG00000053747:ENST00000313654:exon69:c.T9028C:p.S3010P;	0.00365702259093362	0.042
18	21523753	T	G	18	23943789	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.T9028G:p.S3010A;LAMA3:NM_001127718:exon31:c.T4033G:p.S1345A;LAMA3:NM_001127717:exon68:c.T8860G:p.S2954A;LAMA3:NM_000227:exon32:c.T4201G:p.S1401A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.T4201G:p.S1401A;ENSG00000053747:ENST00000587184:exon31:c.T4033G:p.S1345A;ENSG00000053747:ENST00000399516:exon68:c.T8860G:p.S2954A;ENSG00000053747:ENST00000313654:exon69:c.T9028G:p.S3010A;	0.00144214554706756	0.028
18	21523933	A	C	18	23943969	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.A9208C:p.T3070P;LAMA3:NM_001127718:exon31:c.A4213C:p.T1405P;LAMA3:NM_001127717:exon68:c.A9040C:p.T3014P;LAMA3:NM_000227:exon32:c.A4381C:p.T1461P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.A4381C:p.T1461P;ENSG00000053747:ENST00000587184:exon31:c.A4213C:p.T1405P;ENSG00000053747:ENST00000399516:exon68:c.A9040C:p.T3014P;ENSG00000053747:ENST00000313654:exon69:c.A9208C:p.T3070P;	0.0289130958535192	0.21
18	21523933	A	G	18	23943969	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.A9208G:p.T3070A;LAMA3:NM_001127718:exon31:c.A4213G:p.T1405A;LAMA3:NM_001127717:exon68:c.A9040G:p.T3014A;LAMA3:NM_000227:exon32:c.A4381G:p.T1461A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.A4381G:p.T1461A;ENSG00000053747:ENST00000587184:exon31:c.A4213G:p.T1405A;ENSG00000053747:ENST00000399516:exon68:c.A9040G:p.T3014A;ENSG00000053747:ENST00000313654:exon69:c.A9208G:p.T3070A;	0.00431343447175304	0.106
18	21523933	A	T	18	23943969	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.A9208T:p.T3070S;LAMA3:NM_001127718:exon31:c.A4213T:p.T1405S;LAMA3:NM_001127717:exon68:c.A9040T:p.T3014S;LAMA3:NM_000227:exon32:c.A4381T:p.T1461S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.A4381T:p.T1461S;ENSG00000053747:ENST00000587184:exon31:c.A4213T:p.T1405S;ENSG00000053747:ENST00000399516:exon68:c.A9040T:p.T3014S;ENSG00000053747:ENST00000313654:exon69:c.A9208T:p.T3070S;	0.0549378921440655	0.178
18	21523934	C	A	18	23943970	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.C9209A:p.T3070K;LAMA3:NM_001127718:exon31:c.C4214A:p.T1405K;LAMA3:NM_001127717:exon68:c.C9041A:p.T3014K;LAMA3:NM_000227:exon32:c.C4382A:p.T1461K;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.C4382A:p.T1461K;ENSG00000053747:ENST00000587184:exon31:c.C4214A:p.T1405K;ENSG00000053747:ENST00000399516:exon68:c.C9041A:p.T3014K;ENSG00000053747:ENST00000313654:exon69:c.C9209A:p.T3070K;	0.0373424367157727	0.32
18	21523934	C	G	18	23943970	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.C9209G:p.T3070R;LAMA3:NM_001127718:exon31:c.C4214G:p.T1405R;LAMA3:NM_001127717:exon68:c.C9041G:p.T3014R;LAMA3:NM_000227:exon32:c.C4382G:p.T1461R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.C4382G:p.T1461R;ENSG00000053747:ENST00000587184:exon31:c.C4214G:p.T1405R;ENSG00000053747:ENST00000399516:exon68:c.C9041G:p.T3014R;ENSG00000053747:ENST00000313654:exon69:c.C9209G:p.T3070R;	0.0570125336648468	0.202
18	21523934	C	T	18	23943970	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon69:c.C9209T:p.T3070M;LAMA3:NM_001127718:exon31:c.C4214T:p.T1405M;LAMA3:NM_001127717:exon68:c.C9041T:p.T3014M;LAMA3:NM_000227:exon32:c.C4382T:p.T1461M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.C4382T:p.T1461M;ENSG00000053747:ENST00000587184:exon31:c.C4214T:p.T1405M;ENSG00000053747:ENST00000399516:exon68:c.C9041T:p.T3014M;ENSG00000053747:ENST00000313654:exon69:c.C9209T:p.T3070M;	0.0403947085727159	0.166
18	21523935	G	A	18	23943971	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon69:c.G9210A:p.T3070T;LAMA3:NM_001127718:exon31:c.G4215A:p.T1405T;LAMA3:NM_001127717:exon68:c.G9042A:p.T3014T;LAMA3:NM_000227:exon32:c.G4383A:p.T1461T;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.G4383A:p.T1461T;ENSG00000053747:ENST00000587184:exon31:c.G4215A:p.T1405T;ENSG00000053747:ENST00000399516:exon68:c.G9042A:p.T3014T;ENSG00000053747:ENST00000313654:exon69:c.G9210A:p.T3070T;	0.997779772354215	0.928
18	21523935	G	C	18	23943971	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon69:c.G9210C:p.T3070T;LAMA3:NM_001127718:exon31:c.G4215C:p.T1405T;LAMA3:NM_001127717:exon68:c.G9042C:p.T3014T;LAMA3:NM_000227:exon32:c.G4383C:p.T1461T;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.G4383C:p.T1461T;ENSG00000053747:ENST00000587184:exon31:c.G4215C:p.T1405T;ENSG00000053747:ENST00000399516:exon68:c.G9042C:p.T3014T;ENSG00000053747:ENST00000313654:exon69:c.G9210C:p.T3070T;	0.999973885189284	0.892
18	21523935	G	T	18	23943971	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon69:c.G9210T:p.T3070T;LAMA3:NM_001127718:exon31:c.G4215T:p.T1405T;LAMA3:NM_001127717:exon68:c.G9042T:p.T3014T;LAMA3:NM_000227:exon32:c.G4383T:p.T1461T;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon32:c.G4383T:p.T1461T;ENSG00000053747:ENST00000587184:exon31:c.G4215T:p.T1405T;ENSG00000053747:ENST00000399516:exon68:c.G9042T:p.T3014T;ENSG00000053747:ENST00000313654:exon69:c.G9210T:p.T3070T;	0.999705571243032	0.942
18	21523936	G	A	18	23943972	y	y	splicing	LAMA3(NM_001127717:exon68:c.9042+1G>A;NM_198129:exon69:c.9210+1G>A;NM_001127718:exon31:c.4215+1G>A;NM_000227:exon32:c.4383+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9210+1G>A;ENST00000399516:exon68:c.9042+1G>A;ENST00000269217:exon32:c.4383+1G>A;ENST00000587184:exon31:c.4215+1G>A)	.	.	0.999985532734767	0.936
18	21523936	G	C	18	23943972	y	y	splicing	LAMA3(NM_001127717:exon68:c.9042+1G>C;NM_198129:exon69:c.9210+1G>C;NM_001127718:exon31:c.4215+1G>C;NM_000227:exon32:c.4383+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9210+1G>C;ENST00000399516:exon68:c.9042+1G>C;ENST00000269217:exon32:c.4383+1G>C;ENST00000587184:exon31:c.4215+1G>C)	.	.	0.999985532734767	0.936
18	21523936	G	T	18	23943972	y	y	splicing	LAMA3(NM_001127717:exon68:c.9042+1G>T;NM_198129:exon69:c.9210+1G>T;NM_001127718:exon31:c.4215+1G>T;NM_000227:exon32:c.4383+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9210+1G>T;ENST00000399516:exon68:c.9042+1G>T;ENST00000269217:exon32:c.4383+1G>T;ENST00000587184:exon31:c.4215+1G>T)	.	.	0.999985532734767	0.936
18	21523937	T	A	18	23943973	y	y	splicing	LAMA3(NM_001127717:exon68:c.9042+2T>A;NM_198129:exon69:c.9210+2T>A;NM_001127718:exon31:c.4215+2T>A;NM_000227:exon32:c.4383+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9210+2T>A;ENST00000399516:exon68:c.9042+2T>A;ENST00000269217:exon32:c.4383+2T>A;ENST00000587184:exon31:c.4215+2T>A)	.	.	0.999988247793601	0.928
18	21523937	T	C	18	23943973	y	y	splicing	LAMA3(NM_001127717:exon68:c.9042+2T>C;NM_198129:exon69:c.9210+2T>C;NM_001127718:exon31:c.4215+2T>C;NM_000227:exon32:c.4383+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9210+2T>C;ENST00000399516:exon68:c.9042+2T>C;ENST00000269217:exon32:c.4383+2T>C;ENST00000587184:exon31:c.4215+2T>C)	.	.	0.99991522016916	0.882
18	21523937	T	G	18	23943973	y	y	splicing	LAMA3(NM_001127717:exon68:c.9042+2T>G;NM_198129:exon69:c.9210+2T>G;NM_001127718:exon31:c.4215+2T>G;NM_000227:exon32:c.4383+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon69:c.9210+2T>G;ENST00000399516:exon68:c.9042+2T>G;ENST00000269217:exon32:c.4383+2T>G;ENST00000587184:exon31:c.4215+2T>G)	.	.	0.999988247793601	0.928
18	21523938	A	C	18	23943974	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.975558449132008	0.574
18	21523938	A	G	18	23943974	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.43360415918499E-4	0.144
18	21523938	A	T	18	23943974	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.932754929868307	0.51
18	21523939	A	C	18	23943975	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.513130443568672	0.574
18	21523939	A	G	18	23943975	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.855988373888944	0.612
18	21523939	A	T	18	23943975	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.958332764360821	0.574
18	21523940	G	A	18	23943976	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99404363550783	0.82
18	21523940	G	C	18	23943976	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999503702629028	0.89
18	21523940	G	T	18	23943976	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998079997806713	0.784
18	21523941	A	C	18	23943977	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.09966550417293E-4	0.018
18	21523941	A	G	18	23943977	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.61195224431793E-5	0.004
18	21523941	A	T	18	23943977	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.2741894637865E-5	0.002
18	21523942	G	A	18	23943978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.85238302811178E-4	0.034
18	21523942	G	C	18	23943978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.3275640518732E-4	0.004
18	21523942	G	T	18	23943978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.3275640518732E-4	0.004
18	21523943	C	A	18	23943979	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00248698644916218	0.032
18	21523943	C	G	18	23943979	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00255729652319625	0.046
18	21523943	C	T	18	23943979	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00333083044462194	0.03
18	21526096	C	A	18	23946132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.67104894119977E-4	0.04
18	21526096	C	G	18	23946132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.89692689500808E-4	0.056
18	21526096	C	T	18	23946132	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.20310505831261E-5	0.0
18	21526097	T	A	18	23946133	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00111961714128917	0.176
18	21526097	T	C	18	23946133	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.43842680025252E-4	0.062
18	21526097	T	G	18	23946133	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0013174644054093	0.174
18	21526098	T	A	18	23946134	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.8044027221298E-4	0.058
18	21526098	T	C	18	23946134	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.48199097077168E-5	0.0
18	21526098	T	G	18	23946134	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.1842213053467E-4	0.098
18	21526099	A	C	18	23946135	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.53391282535684E-5	0.0
18	21526099	A	G	18	23946135	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.07591424580459E-5	0.0
18	21526099	A	T	18	23946135	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.91245453527983E-5	0.002
18	21526100	C	A	18	23946136	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.62451960343485E-4	0.024
18	21526100	C	G	18	23946136	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998918722711121	0.976
18	21526100	C	T	18	23946136	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.67547142345282E-5	0.0
18	21526101	T	A	18	23946137	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00299244691273316	0.12
18	21526101	T	C	18	23946137	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.28613973058684E-5	0.0
18	21526101	T	G	18	23946137	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00890279262698572	0.11
18	21526102	C	A	18	23946138	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00150632179412789	0.104
18	21526102	C	G	18	23946138	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00144655666072203	0.112
18	21526102	C	T	18	23946138	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.84604287473846E-5	0.0
18	21526103	T	A	18	23946139	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.994160690405617	0.938
18	21526103	T	C	18	23946139	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.88739256676292E-5	0.006
18	21526103	T	G	18	23946139	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.42003400463605E-4	0.214
18	21526104	G	A	18	23946140	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.22735006177164E-5	0.008
18	21526104	G	C	18	23946140	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.81113288902239E-5	0.0
18	21526104	G	T	18	23946140	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17486155721189E-5	0.0
18	21526105	A	C	18	23946141	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.60084229141362E-4	0.152
18	21526105	A	G	18	23946141	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.27500753516595	0.374
18	21526105	A	T	18	23946141	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.74640765279097E-5	0.006
18	21526106	A	C	18	23946142	y	y	splicing	LAMA3(NM_001127717:exon69:c.9043-2A>C;NM_198129:exon70:c.9211-2A>C;NM_001127718:exon32:c.4216-2A>C;NM_000227:exon33:c.4384-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9211-2A>C;ENST00000399516:exon69:c.9043-2A>C;ENST00000269217:exon33:c.4384-2A>C;ENST00000587184:exon32:c.4216-2A>C)	.	.	0.999971317418422	0.888
18	21526106	A	G	18	23946142	y	y	splicing	LAMA3(NM_001127717:exon69:c.9043-2A>G;NM_198129:exon70:c.9211-2A>G;NM_001127718:exon32:c.4216-2A>G;NM_000227:exon33:c.4384-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9211-2A>G;ENST00000399516:exon69:c.9043-2A>G;ENST00000269217:exon33:c.4384-2A>G;ENST00000587184:exon32:c.4216-2A>G)	.	.	0.999971317418422	0.888
18	21526106	A	T	18	23946142	y	y	splicing	LAMA3(NM_001127717:exon69:c.9043-2A>T;NM_198129:exon70:c.9211-2A>T;NM_001127718:exon32:c.4216-2A>T;NM_000227:exon33:c.4384-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9211-2A>T;ENST00000399516:exon69:c.9043-2A>T;ENST00000269217:exon33:c.4384-2A>T;ENST00000587184:exon32:c.4216-2A>T)	.	.	0.999951957019574	0.894
18	21526107	G	A	18	23946143	y	y	splicing	LAMA3(NM_001127717:exon69:c.9043-1G>A;NM_198129:exon70:c.9211-1G>A;NM_001127718:exon32:c.4216-1G>A;NM_000227:exon33:c.4384-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9211-1G>A;ENST00000399516:exon69:c.9043-1G>A;ENST00000269217:exon33:c.4384-1G>A;ENST00000587184:exon32:c.4216-1G>A)	.	.	0.999956786857988	0.938
18	21526107	G	C	18	23946143	y	y	splicing	LAMA3(NM_001127717:exon69:c.9043-1G>C;NM_198129:exon70:c.9211-1G>C;NM_001127718:exon32:c.4216-1G>C;NM_000227:exon33:c.4384-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9211-1G>C;ENST00000399516:exon69:c.9043-1G>C;ENST00000269217:exon33:c.4384-1G>C;ENST00000587184:exon32:c.4216-1G>C)	.	.	0.999940858364002	0.906
18	21526107	G	T	18	23946143	y	y	splicing	LAMA3(NM_001127717:exon69:c.9043-1G>T;NM_198129:exon70:c.9211-1G>T;NM_001127718:exon32:c.4216-1G>T;NM_000227:exon33:c.4384-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9211-1G>T;ENST00000399516:exon69:c.9043-1G>T;ENST00000269217:exon33:c.4384-1G>T;ENST00000587184:exon32:c.4216-1G>T)	.	.	0.999955279531929	0.934
18	21526108	G	A	18	23946144	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.G9211A:p.V3071M;LAMA3:NM_001127718:exon32:c.G4216A:p.V1406M;LAMA3:NM_001127717:exon69:c.G9043A:p.V3015M;LAMA3:NM_000227:exon33:c.G4384A:p.V1462M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.G4384A:p.V1462M;ENSG00000053747:ENST00000587184:exon32:c.G4216A:p.V1406M;ENSG00000053747:ENST00000399516:exon69:c.G9043A:p.V3015M;ENSG00000053747:ENST00000313654:exon70:c.G9211A:p.V3071M;	0.997711238937571	0.78
18	21526108	G	C	18	23946144	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.G9211C:p.V3071L;LAMA3:NM_001127718:exon32:c.G4216C:p.V1406L;LAMA3:NM_001127717:exon69:c.G9043C:p.V3015L;LAMA3:NM_000227:exon33:c.G4384C:p.V1462L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.G4384C:p.V1462L;ENSG00000053747:ENST00000587184:exon32:c.G4216C:p.V1406L;ENSG00000053747:ENST00000399516:exon69:c.G9043C:p.V3015L;ENSG00000053747:ENST00000313654:exon70:c.G9211C:p.V3071L;	0.998986838551247	0.944
18	21526108	G	T	18	23946144	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.G9211T:p.V3071L;LAMA3:NM_001127718:exon32:c.G4216T:p.V1406L;LAMA3:NM_001127717:exon69:c.G9043T:p.V3015L;LAMA3:NM_000227:exon33:c.G4384T:p.V1462L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.G4384T:p.V1462L;ENSG00000053747:ENST00000587184:exon32:c.G4216T:p.V1406L;ENSG00000053747:ENST00000399516:exon69:c.G9043T:p.V3015L;ENSG00000053747:ENST00000313654:exon70:c.G9211T:p.V3071L;	0.999279968206233	0.978
18	21526109	T	A	18	23946145	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.T9212A:p.V3071E;LAMA3:NM_001127718:exon32:c.T4217A:p.V1406E;LAMA3:NM_001127717:exon69:c.T9044A:p.V3015E;LAMA3:NM_000227:exon33:c.T4385A:p.V1462E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.T4385A:p.V1462E;ENSG00000053747:ENST00000587184:exon32:c.T4217A:p.V1406E;ENSG00000053747:ENST00000399516:exon69:c.T9044A:p.V3015E;ENSG00000053747:ENST00000313654:exon70:c.T9212A:p.V3071E;	0.323996757658069	0.376
18	21526109	T	C	18	23946145	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.T9212C:p.V3071A;LAMA3:NM_001127718:exon32:c.T4217C:p.V1406A;LAMA3:NM_001127717:exon69:c.T9044C:p.V3015A;LAMA3:NM_000227:exon33:c.T4385C:p.V1462A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.T4385C:p.V1462A;ENSG00000053747:ENST00000587184:exon32:c.T4217C:p.V1406A;ENSG00000053747:ENST00000399516:exon69:c.T9044C:p.V3015A;ENSG00000053747:ENST00000313654:exon70:c.T9212C:p.V3071A;	0.389624831110904	0.394
18	21526109	T	G	18	23946145	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.T9212G:p.V3071G;LAMA3:NM_001127718:exon32:c.T4217G:p.V1406G;LAMA3:NM_001127717:exon69:c.T9044G:p.V3015G;LAMA3:NM_000227:exon33:c.T4385G:p.V1462G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.T4385G:p.V1462G;ENSG00000053747:ENST00000587184:exon32:c.T4217G:p.V1406G;ENSG00000053747:ENST00000399516:exon69:c.T9044G:p.V3015G;ENSG00000053747:ENST00000313654:exon70:c.T9212G:p.V3071G;	0.550888274865677	0.378
18	21526246	A	C	18	23946282	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.A9349C:p.K3117Q;LAMA3:NM_001127718:exon32:c.A4354C:p.K1452Q;LAMA3:NM_001127717:exon69:c.A9181C:p.K3061Q;LAMA3:NM_000227:exon33:c.A4522C:p.K1508Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.A4522C:p.K1508Q;ENSG00000053747:ENST00000587184:exon32:c.A4354C:p.K1452Q;ENSG00000053747:ENST00000399516:exon69:c.A9181C:p.K3061Q;ENSG00000053747:ENST00000313654:exon70:c.A9349C:p.K3117Q;	6.27373274585666E-4	0.0
18	21526246	A	G	18	23946282	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.A9349G:p.K3117E;LAMA3:NM_001127718:exon32:c.A4354G:p.K1452E;LAMA3:NM_001127717:exon69:c.A9181G:p.K3061E;LAMA3:NM_000227:exon33:c.A4522G:p.K1508E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.A4522G:p.K1508E;ENSG00000053747:ENST00000587184:exon32:c.A4354G:p.K1452E;ENSG00000053747:ENST00000399516:exon69:c.A9181G:p.K3061E;ENSG00000053747:ENST00000313654:exon70:c.A9349G:p.K3117E;	0.00281740563469255	0.02
18	21526246	A	T	18	23946282	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon70:c.A9349T:p.K3117X;LAMA3:NM_001127718:exon32:c.A4354T:p.K1452X;LAMA3:NM_001127717:exon69:c.A9181T:p.K3061X;LAMA3:NM_000227:exon33:c.A4522T:p.K1508X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon33:c.A4522T:p.K1508X;ENSG00000053747:ENST00000587184:exon32:c.A4354T:p.K1452X;ENSG00000053747:ENST00000399516:exon69:c.A9181T:p.K3061X;ENSG00000053747:ENST00000313654:exon70:c.A9349T:p.K3117X;	0.331557494301583	0.55
18	21526247	A	C	18	23946283	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.A9350C:p.K3117T;LAMA3:NM_001127718:exon32:c.A4355C:p.K1452T;LAMA3:NM_001127717:exon69:c.A9182C:p.K3061T;LAMA3:NM_000227:exon33:c.A4523C:p.K1508T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.A4523C:p.K1508T;ENSG00000053747:ENST00000587184:exon32:c.A4355C:p.K1452T;ENSG00000053747:ENST00000399516:exon69:c.A9182C:p.K3061T;ENSG00000053747:ENST00000313654:exon70:c.A9350C:p.K3117T;	0.476997216667364	0.538
18	21526247	A	G	18	23946283	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.A9350G:p.K3117R;LAMA3:NM_001127718:exon32:c.A4355G:p.K1452R;LAMA3:NM_001127717:exon69:c.A9182G:p.K3061R;LAMA3:NM_000227:exon33:c.A4523G:p.K1508R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.A4523G:p.K1508R;ENSG00000053747:ENST00000587184:exon32:c.A4355G:p.K1452R;ENSG00000053747:ENST00000399516:exon69:c.A9182G:p.K3061R;ENSG00000053747:ENST00000313654:exon70:c.A9350G:p.K3117R;	0.977909382027034	0.648
18	21526247	A	T	18	23946283	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.A9350T:p.K3117M;LAMA3:NM_001127718:exon32:c.A4355T:p.K1452M;LAMA3:NM_001127717:exon69:c.A9182T:p.K3061M;LAMA3:NM_000227:exon33:c.A4523T:p.K1508M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.A4523T:p.K1508M;ENSG00000053747:ENST00000587184:exon32:c.A4355T:p.K1452M;ENSG00000053747:ENST00000399516:exon69:c.A9182T:p.K3061M;ENSG00000053747:ENST00000313654:exon70:c.A9350T:p.K3117M;	0.989910175162507	0.758
18	21526248	G	A	18	23946284	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon70:c.G9351A:p.K3117K;LAMA3:NM_001127718:exon32:c.G4356A:p.K1452K;LAMA3:NM_001127717:exon69:c.G9183A:p.K3061K;LAMA3:NM_000227:exon33:c.G4524A:p.K1508K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.G4524A:p.K1508K;ENSG00000053747:ENST00000587184:exon32:c.G4356A:p.K1452K;ENSG00000053747:ENST00000399516:exon69:c.G9183A:p.K3061K;ENSG00000053747:ENST00000313654:exon70:c.G9351A:p.K3117K;	0.989924969606283	0.904
18	21526248	G	C	18	23946284	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.G9351C:p.K3117N;LAMA3:NM_001127718:exon32:c.G4356C:p.K1452N;LAMA3:NM_001127717:exon69:c.G9183C:p.K3061N;LAMA3:NM_000227:exon33:c.G4524C:p.K1508N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.G4524C:p.K1508N;ENSG00000053747:ENST00000587184:exon32:c.G4356C:p.K1452N;ENSG00000053747:ENST00000399516:exon69:c.G9183C:p.K3061N;ENSG00000053747:ENST00000313654:exon70:c.G9351C:p.K3117N;	0.999995055787621	0.996
18	21526248	G	T	18	23946284	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon70:c.G9351T:p.K3117N;LAMA3:NM_001127718:exon32:c.G4356T:p.K1452N;LAMA3:NM_001127717:exon69:c.G9183T:p.K3061N;LAMA3:NM_000227:exon33:c.G4524T:p.K1508N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon33:c.G4524T:p.K1508N;ENSG00000053747:ENST00000587184:exon32:c.G4356T:p.K1452N;ENSG00000053747:ENST00000399516:exon69:c.G9183T:p.K3061N;ENSG00000053747:ENST00000313654:exon70:c.G9351T:p.K3117N;	0.999956821775868	0.962
18	21526249	G	A	18	23946285	y	y	splicing	LAMA3(NM_001127717:exon69:c.9183+1G>A;NM_198129:exon70:c.9351+1G>A;NM_001127718:exon32:c.4356+1G>A;NM_000227:exon33:c.4524+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9351+1G>A;ENST00000399516:exon69:c.9183+1G>A;ENST00000269217:exon33:c.4524+1G>A;ENST00000587184:exon32:c.4356+1G>A;ENST00000590104:exon1:c.101+1G>A)	.	.	0.999976137096505	0.934
18	21526249	G	C	18	23946285	y	y	splicing	LAMA3(NM_001127717:exon69:c.9183+1G>C;NM_198129:exon70:c.9351+1G>C;NM_001127718:exon32:c.4356+1G>C;NM_000227:exon33:c.4524+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9351+1G>C;ENST00000399516:exon69:c.9183+1G>C;ENST00000269217:exon33:c.4524+1G>C;ENST00000587184:exon32:c.4356+1G>C;ENST00000590104:exon1:c.101+1G>C)	.	.	0.999966737406901	0.928
18	21526249	G	T	18	23946285	y	y	splicing	LAMA3(NM_001127717:exon69:c.9183+1G>T;NM_198129:exon70:c.9351+1G>T;NM_001127718:exon32:c.4356+1G>T;NM_000227:exon33:c.4524+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9351+1G>T;ENST00000399516:exon69:c.9183+1G>T;ENST00000269217:exon33:c.4524+1G>T;ENST00000587184:exon32:c.4356+1G>T;ENST00000590104:exon1:c.101+1G>T)	.	.	0.999976137096505	0.928
18	21526250	T	A	18	23946286	y	y	splicing	LAMA3(NM_001127717:exon69:c.9183+2T>A;NM_198129:exon70:c.9351+2T>A;NM_001127718:exon32:c.4356+2T>A;NM_000227:exon33:c.4524+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9351+2T>A;ENST00000399516:exon69:c.9183+2T>A;ENST00000269217:exon33:c.4524+2T>A;ENST00000587184:exon32:c.4356+2T>A;ENST00000590104:exon1:c.101+2T>A)	.	.	0.99994568797423	0.924
18	21526250	T	C	18	23946286	y	y	splicing	LAMA3(NM_001127717:exon69:c.9183+2T>C;NM_198129:exon70:c.9351+2T>C;NM_001127718:exon32:c.4356+2T>C;NM_000227:exon33:c.4524+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9351+2T>C;ENST00000399516:exon69:c.9183+2T>C;ENST00000269217:exon33:c.4524+2T>C;ENST00000587184:exon32:c.4356+2T>C;ENST00000590104:exon1:c.101+2T>C)	.	.	0.982106279493755	0.64
18	21526250	T	G	18	23946286	y	y	splicing	LAMA3(NM_001127717:exon69:c.9183+2T>G;NM_198129:exon70:c.9351+2T>G;NM_001127718:exon32:c.4356+2T>G;NM_000227:exon33:c.4524+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon70:c.9351+2T>G;ENST00000399516:exon69:c.9183+2T>G;ENST00000269217:exon33:c.4524+2T>G;ENST00000587184:exon32:c.4356+2T>G;ENST00000590104:exon1:c.101+2T>G)	.	.	0.99994568797423	0.92
18	21526251	A	C	18	23946287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998144410893918	0.838
18	21526251	A	G	18	23946287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.648717362382515	0.568
18	21526251	A	T	18	23946287	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998897057748684	0.704
18	21526252	A	C	18	23946288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.233374941870366	0.392
18	21526252	A	G	18	23946288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.475604996974784	0.376
18	21526252	A	T	18	23946288	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.623595913200341	0.358
18	21526253	A	C	18	23946289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.87756941512599E-5	0.02
18	21526253	A	G	18	23946289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.86227428893445E-5	0.0
18	21526253	A	T	18	23946289	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.16257708040778E-5	0.008
18	21526254	T	A	18	23946290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00325438420250968	0.072
18	21526254	T	C	18	23946290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00236066264195213	0.128
18	21526254	T	G	18	23946290	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.99228321411238E-4	0.09
18	21526255	A	C	18	23946291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.62965044666173E-5	0.0
18	21526255	A	G	18	23946291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.66441693737182E-5	0.0
18	21526255	A	T	18	23946291	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.44227124150118E-5	0.0
18	21526256	G	A	18	23946292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.5364181533214E-5	0.0
18	21526256	G	C	18	23946292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.10754251582927E-5	0.0
18	21526256	G	T	18	23946292	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.10754251582927E-5	0.0
18	21526429	T	A	18	23946465	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.96653435898131E-5	0.0
18	21526429	T	C	18	23946465	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.20934638199724E-5	0.0
18	21526429	T	G	18	23946465	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.96653435898131E-5	0.0
18	21526430	T	A	18	23946466	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.01405895405358E-5	0.086
18	21526430	T	C	18	23946466	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.01405895405358E-5	0.008
18	21526430	T	G	18	23946466	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.01405895405358E-5	0.008
18	21526431	C	A	18	23946467	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00675832680685E-4	0.002
18	21526431	C	G	18	23946467	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.32510510707312E-5	0.002
18	21526431	C	T	18	23946467	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.00675832680685E-4	0.002
18	21526432	A	C	18	23946468	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.68140984436469E-5	0.004
18	21526432	A	G	18	23946468	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.68140984436469E-5	0.004
18	21526432	A	T	18	23946468	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.68140984436469E-5	0.004
18	21526433	T	A	18	23946469	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.11159464097565E-5	0.004
18	21526433	T	C	18	23946469	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.39529611572298E-5	0.004
18	21526433	T	G	18	23946469	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.39529611572298E-5	0.004
18	21526434	T	A	18	23946470	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.15267776820636E-5	0.0
18	21526434	T	C	18	23946470	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.15267776820636E-5	0.0
18	21526434	T	G	18	23946470	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.15267776820636E-5	0.0
18	21526435	T	A	18	23946471	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.39529611572298E-5	0.004
18	21526435	T	C	18	23946471	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44782069694124E-5	0.004
18	21526435	T	G	18	23946471	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44782069694124E-5	0.004
18	21526436	C	A	18	23946472	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.47039489069415E-5	0.0
18	21526436	C	G	18	23946472	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.14301101535901E-5	0.0
18	21526436	C	T	18	23946472	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.47039489069415E-5	0.004
18	21526437	T	A	18	23946473	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.35428655471156E-5	0.002
18	21526437	T	C	18	23946473	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.49702646665041E-5	0.006
18	21526437	T	G	18	23946473	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.49702646665041E-5	0.006
18	21526438	A	C	18	23946474	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.39457982047225E-5	0.0
18	21526438	A	G	18	23946474	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.39457982047225E-5	0.0
18	21526438	A	T	18	23946474	n	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.39457982047225E-5	0.0
18	21526439	A	C	18	23946475	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000590104:exon2:c.102-2A>C)	.	.	3.39529611572298E-5	0.004
18	21526439	A	G	18	23946475	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000590104:exon2:c.102-2A>G)	.	.	3.39529611572298E-5	0.004
18	21526439	A	T	18	23946475	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000590104:exon2:c.102-2A>T)	.	.	3.39529611572298E-5	0.004
18	21526440	G	A	18	23946476	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000590104:exon2:c.102-1G>A)	.	.	3.21557472225283E-5	0.0
18	21526440	G	C	18	23946476	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000590104:exon2:c.102-1G>C)	.	.	3.21557472225283E-5	0.0
18	21526440	G	T	18	23946476	n	y	intronic	LAMA3	.	.	splicing	ENSG00000053747(ENST00000590104:exon2:c.102-1G>T)	.	.	3.21557472225283E-5	0.0
18	21526441	G	A	18	23946477	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	2.82827935381688E-5	0.002
18	21526441	G	C	18	23946477	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	2.82827935381688E-5	0.002
18	21526441	G	T	18	23946477	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	2.82827935381688E-5	0.002
18	21526442	T	A	18	23946478	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	2.41069364790736E-5	0.008
18	21526442	T	C	18	23946478	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	2.41069364790736E-5	0.006
18	21526442	T	G	18	23946478	n	y	intronic	LAMA3	.	.	exonic	ENSG00000053747	unknown	UNKNOWN	2.41069364790736E-5	0.006
18	21529717	G	A	18	23949753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.69950815634258E-5	0.002
18	21529717	G	C	18	23949753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.95048459408849E-5	0.0
18	21529717	G	T	18	23949753	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.95048459408849E-5	0.006
18	21529718	C	A	18	23949754	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.28099969843938E-4	0.056
18	21529718	C	G	18	23949754	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00121640140689758	0.074
18	21529718	C	T	18	23949754	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.76576320483171E-4	0.002
18	21529719	T	A	18	23949755	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.103811433508243	0.408
18	21529719	T	C	18	23949755	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.44459129042085E-4	0.142
18	21529719	T	G	18	23949755	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0305512202281105	0.424
18	21529720	T	A	18	23949756	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999909377207605	0.954
18	21529720	T	C	18	23949756	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.14198450929821E-4	0.004
18	21529720	T	G	18	23949756	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0527961861444086	0.436
18	21529721	G	A	18	23949757	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998291963642783	0.944
18	21529721	G	C	18	23949757	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.05783752425072E-4	0.01
18	21529721	G	T	18	23949757	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.57497011394171E-5	0.012
18	21529722	G	A	18	23949758	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.35595064973613E-5	0.016
18	21529722	G	C	18	23949758	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.31031713503319E-5	0.0
18	21529722	G	T	18	23949758	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.41697561668273E-5	0.0
18	21529723	T	A	18	23949759	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.269529993708756	0.464
18	21529723	T	C	18	23949759	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.91073031022116E-4	0.03
18	21529723	T	G	18	23949759	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.143375730162844	0.466
18	21529724	T	A	18	23949760	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999281444291539	0.932
18	21529724	T	C	18	23949760	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00211318653319797	0.18
18	21529724	T	G	18	23949760	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.595535909633237	0.524
18	21529725	G	A	18	23949761	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.9495246658245E-5	0.004
18	21529725	G	C	18	23949761	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.57475324290944E-5	0.002
18	21529725	G	T	18	23949761	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.69581274311628E-5	0.0
18	21529726	C	A	18	23949762	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.969022013271934	0.83
18	21529726	C	G	18	23949762	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999825737330874	0.912
18	21529726	C	T	18	23949762	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.66526293850498E-4	0.102
18	21529727	A	C	18	23949763	y	y	splicing	LAMA3(NM_001127717:exon70:c.9184-2A>C;NM_198129:exon71:c.9352-2A>C;NM_001127718:exon33:c.4357-2A>C;NM_000227:exon34:c.4525-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9352-2A>C;ENST00000399516:exon70:c.9184-2A>C;ENST00000269217:exon34:c.4525-2A>C;ENST00000587184:exon33:c.4357-2A>C)	.	.	0.99994568797423	0.954
18	21529727	A	G	18	23949763	y	y	splicing	LAMA3(NM_001127717:exon70:c.9184-2A>G;NM_198129:exon71:c.9352-2A>G;NM_001127718:exon33:c.4357-2A>G;NM_000227:exon34:c.4525-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9352-2A>G;ENST00000399516:exon70:c.9184-2A>G;ENST00000269217:exon34:c.4525-2A>G;ENST00000587184:exon33:c.4357-2A>G)	.	.	0.99994568797423	0.954
18	21529727	A	T	18	23949763	y	y	splicing	LAMA3(NM_001127717:exon70:c.9184-2A>T;NM_198129:exon71:c.9352-2A>T;NM_001127718:exon33:c.4357-2A>T;NM_000227:exon34:c.4525-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9352-2A>T;ENST00000399516:exon70:c.9184-2A>T;ENST00000269217:exon34:c.4525-2A>T;ENST00000587184:exon33:c.4357-2A>T)	.	.	0.99994568797423	0.95
18	21529728	G	A	18	23949764	y	y	splicing	LAMA3(NM_001127717:exon70:c.9184-1G>A;NM_198129:exon71:c.9352-1G>A;NM_001127718:exon33:c.4357-1G>A;NM_000227:exon34:c.4525-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9352-1G>A;ENST00000399516:exon70:c.9184-1G>A;ENST00000269217:exon34:c.4525-1G>A;ENST00000587184:exon33:c.4357-1G>A)	.	.	0.99993314117114	0.934
18	21529728	G	C	18	23949764	y	y	splicing	LAMA3(NM_001127717:exon70:c.9184-1G>C;NM_198129:exon71:c.9352-1G>C;NM_001127718:exon33:c.4357-1G>C;NM_000227:exon34:c.4525-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9352-1G>C;ENST00000399516:exon70:c.9184-1G>C;ENST00000269217:exon34:c.4525-1G>C;ENST00000587184:exon33:c.4357-1G>C)	.	.	0.99993314117114	0.944
18	21529728	G	T	18	23949764	y	y	splicing	LAMA3(NM_001127717:exon70:c.9184-1G>T;NM_198129:exon71:c.9352-1G>T;NM_001127718:exon33:c.4357-1G>T;NM_000227:exon34:c.4525-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9352-1G>T;ENST00000399516:exon70:c.9184-1G>T;ENST00000269217:exon34:c.4525-1G>T;ENST00000587184:exon33:c.4357-1G>T)	.	.	0.99993314117114	0.944
18	21529729	A	C	18	23949765	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.A9352C:p.S3118R;LAMA3:NM_001127718:exon33:c.A4357C:p.S1453R;LAMA3:NM_001127717:exon70:c.A9184C:p.S3062R;LAMA3:NM_000227:exon34:c.A4525C:p.S1509R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.A4525C:p.S1509R;ENSG00000053747:ENST00000587184:exon33:c.A4357C:p.S1453R;ENSG00000053747:ENST00000399516:exon70:c.A9184C:p.S3062R;ENSG00000053747:ENST00000313654:exon71:c.A9352C:p.S3118R;	7.57293548258855E-4	0.084
18	21529729	A	G	18	23949765	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.A9352G:p.S3118G;LAMA3:NM_001127718:exon33:c.A4357G:p.S1453G;LAMA3:NM_001127717:exon70:c.A9184G:p.S3062G;LAMA3:NM_000227:exon34:c.A4525G:p.S1509G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.A4525G:p.S1509G;ENSG00000053747:ENST00000587184:exon33:c.A4357G:p.S1453G;ENSG00000053747:ENST00000399516:exon70:c.A9184G:p.S3062G;ENSG00000053747:ENST00000313654:exon71:c.A9352G:p.S3118G;	2.90974951978988E-4	0.014
18	21529729	A	T	18	23949765	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.A9352T:p.S3118C;LAMA3:NM_001127718:exon33:c.A4357T:p.S1453C;LAMA3:NM_001127717:exon70:c.A9184T:p.S3062C;LAMA3:NM_000227:exon34:c.A4525T:p.S1509C;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.A4525T:p.S1509C;ENSG00000053747:ENST00000587184:exon33:c.A4357T:p.S1453C;ENSG00000053747:ENST00000399516:exon70:c.A9184T:p.S3062C;ENSG00000053747:ENST00000313654:exon71:c.A9352T:p.S3118C;	9.04256735838041E-4	0.146
18	21529730	G	A	18	23949766	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.G9353A:p.S3118N;LAMA3:NM_001127718:exon33:c.G4358A:p.S1453N;LAMA3:NM_001127717:exon70:c.G9185A:p.S3062N;LAMA3:NM_000227:exon34:c.G4526A:p.S1509N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4526A:p.S1509N;ENSG00000053747:ENST00000587184:exon33:c.G4358A:p.S1453N;ENSG00000053747:ENST00000399516:exon70:c.G9185A:p.S3062N;ENSG00000053747:ENST00000313654:exon71:c.G9353A:p.S3118N;	2.30805406012811E-4	0.002
18	21529730	G	C	18	23949766	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.G9353C:p.S3118T;LAMA3:NM_001127718:exon33:c.G4358C:p.S1453T;LAMA3:NM_001127717:exon70:c.G9185C:p.S3062T;LAMA3:NM_000227:exon34:c.G4526C:p.S1509T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4526C:p.S1509T;ENSG00000053747:ENST00000587184:exon33:c.G4358C:p.S1453T;ENSG00000053747:ENST00000399516:exon70:c.G9185C:p.S3062T;ENSG00000053747:ENST00000313654:exon71:c.G9353C:p.S3118T;	3.18519725648678E-5	0.0
18	21529730	G	T	18	23949766	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.G9353T:p.S3118I;LAMA3:NM_001127718:exon33:c.G4358T:p.S1453I;LAMA3:NM_001127717:exon70:c.G9185T:p.S3062I;LAMA3:NM_000227:exon34:c.G4526T:p.S1509I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4526T:p.S1509I;ENSG00000053747:ENST00000587184:exon33:c.G4358T:p.S1453I;ENSG00000053747:ENST00000399516:exon70:c.G9185T:p.S3062I;ENSG00000053747:ENST00000313654:exon71:c.G9353T:p.S3118I;	2.75564764266216E-5	0.008
18	21529886	T	A	18	23949922	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon71:c.T9509A:p.L3170X;LAMA3:NM_001127718:exon33:c.T4514A:p.L1505X;LAMA3:NM_001127717:exon70:c.T9341A:p.L3114X;LAMA3:NM_000227:exon34:c.T4682A:p.L1561X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon34:c.T4682A:p.L1561X;ENSG00000053747:ENST00000587184:exon33:c.T4514A:p.L1505X;ENSG00000053747:ENST00000399516:exon70:c.T9341A:p.L3114X;ENSG00000053747:ENST00000313654:exon71:c.T9509A:p.L3170X;	0.711530784841748	0.762
18	21529886	T	C	18	23949922	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.T9509C:p.L3170S;LAMA3:NM_001127718:exon33:c.T4514C:p.L1505S;LAMA3:NM_001127717:exon70:c.T9341C:p.L3114S;LAMA3:NM_000227:exon34:c.T4682C:p.L1561S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.T4682C:p.L1561S;ENSG00000053747:ENST00000587184:exon33:c.T4514C:p.L1505S;ENSG00000053747:ENST00000399516:exon70:c.T9341C:p.L3114S;ENSG00000053747:ENST00000313654:exon71:c.T9509C:p.L3170S;	0.680332687448913	0.638
18	21529886	T	G	18	23949922	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.T9509G:p.L3170W;LAMA3:NM_001127718:exon33:c.T4514G:p.L1505W;LAMA3:NM_001127717:exon70:c.T9341G:p.L3114W;LAMA3:NM_000227:exon34:c.T4682G:p.L1561W;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.T4682G:p.L1561W;ENSG00000053747:ENST00000587184:exon33:c.T4514G:p.L1505W;ENSG00000053747:ENST00000399516:exon70:c.T9341G:p.L3114W;ENSG00000053747:ENST00000313654:exon71:c.T9509G:p.L3170W;	0.734189738864134	0.698
18	21529887	G	A	18	23949923	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon71:c.G9510A:p.L3170L;LAMA3:NM_001127718:exon33:c.G4515A:p.L1505L;LAMA3:NM_001127717:exon70:c.G9342A:p.L3114L;LAMA3:NM_000227:exon34:c.G4683A:p.L1561L;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4683A:p.L1561L;ENSG00000053747:ENST00000587184:exon33:c.G4515A:p.L1505L;ENSG00000053747:ENST00000399516:exon70:c.G9342A:p.L3114L;ENSG00000053747:ENST00000313654:exon71:c.G9510A:p.L3170L;	7.10244874404744E-5	0.106
18	21529887	G	C	18	23949923	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.G9510C:p.L3170F;LAMA3:NM_001127718:exon33:c.G4515C:p.L1505F;LAMA3:NM_001127717:exon70:c.G9342C:p.L3114F;LAMA3:NM_000227:exon34:c.G4683C:p.L1561F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4683C:p.L1561F;ENSG00000053747:ENST00000587184:exon33:c.G4515C:p.L1505F;ENSG00000053747:ENST00000399516:exon70:c.G9342C:p.L3114F;ENSG00000053747:ENST00000313654:exon71:c.G9510C:p.L3170F;	1.2856110169786E-4	0.01
18	21529887	G	T	18	23949923	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.G9510T:p.L3170F;LAMA3:NM_001127718:exon33:c.G4515T:p.L1505F;LAMA3:NM_001127717:exon70:c.G9342T:p.L3114F;LAMA3:NM_000227:exon34:c.G4683T:p.L1561F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4683T:p.L1561F;ENSG00000053747:ENST00000587184:exon33:c.G4515T:p.L1505F;ENSG00000053747:ENST00000399516:exon70:c.G9342T:p.L3114F;ENSG00000053747:ENST00000313654:exon71:c.G9510T:p.L3170F;	3.41770006009914E-4	0.014
18	21529888	G	A	18	23949924	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.G9511A:p.A3171T;LAMA3:NM_001127718:exon33:c.G4516A:p.A1506T;LAMA3:NM_001127717:exon70:c.G9343A:p.A3115T;LAMA3:NM_000227:exon34:c.G4684A:p.A1562T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4684A:p.A1562T;ENSG00000053747:ENST00000587184:exon33:c.G4516A:p.A1506T;ENSG00000053747:ENST00000399516:exon70:c.G9343A:p.A3115T;ENSG00000053747:ENST00000313654:exon71:c.G9511A:p.A3171T;	0.999962210757109	0.996
18	21529888	G	C	18	23949924	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.G9511C:p.A3171P;LAMA3:NM_001127718:exon33:c.G4516C:p.A1506P;LAMA3:NM_001127717:exon70:c.G9343C:p.A3115P;LAMA3:NM_000227:exon34:c.G4684C:p.A1562P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4684C:p.A1562P;ENSG00000053747:ENST00000587184:exon33:c.G4516C:p.A1506P;ENSG00000053747:ENST00000399516:exon70:c.G9343C:p.A3115P;ENSG00000053747:ENST00000313654:exon71:c.G9511C:p.A3171P;	0.999997247587064	0.996
18	21529888	G	T	18	23949924	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon71:c.G9511T:p.A3171S;LAMA3:NM_001127718:exon33:c.G4516T:p.A1506S;LAMA3:NM_001127717:exon70:c.G9343T:p.A3115S;LAMA3:NM_000227:exon34:c.G4684T:p.A1562S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon34:c.G4684T:p.A1562S;ENSG00000053747:ENST00000587184:exon33:c.G4516T:p.A1506S;ENSG00000053747:ENST00000399516:exon70:c.G9343T:p.A3115S;ENSG00000053747:ENST00000313654:exon71:c.G9511T:p.A3171S;	0.999820615107389	0.918
18	21529889	G	A	18	23949925	y	y	splicing	LAMA3(NM_001127717:exon70:c.9343+1G>A;NM_198129:exon71:c.9511+1G>A;NM_001127718:exon33:c.4516+1G>A;NM_000227:exon34:c.4684+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9511+1G>A;ENST00000399516:exon70:c.9343+1G>A;ENST00000269217:exon34:c.4684+1G>A;ENST00000587184:exon33:c.4516+1G>A;ENST00000588004:exon1:c.32+1G>A)	.	.	0.999985532734767	0.938
18	21529889	G	C	18	23949925	y	y	splicing	LAMA3(NM_001127717:exon70:c.9343+1G>C;NM_198129:exon71:c.9511+1G>C;NM_001127718:exon33:c.4516+1G>C;NM_000227:exon34:c.4684+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9511+1G>C;ENST00000399516:exon70:c.9343+1G>C;ENST00000269217:exon34:c.4684+1G>C;ENST00000587184:exon33:c.4516+1G>C;ENST00000588004:exon1:c.32+1G>C)	.	.	0.999985532734767	0.936
18	21529889	G	T	18	23949925	y	y	splicing	LAMA3(NM_001127717:exon70:c.9343+1G>T;NM_198129:exon71:c.9511+1G>T;NM_001127718:exon33:c.4516+1G>T;NM_000227:exon34:c.4684+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9511+1G>T;ENST00000399516:exon70:c.9343+1G>T;ENST00000269217:exon34:c.4684+1G>T;ENST00000587184:exon33:c.4516+1G>T;ENST00000588004:exon1:c.32+1G>T)	.	.	0.999985532734767	0.936
18	21529890	T	A	18	23949926	y	y	splicing	LAMA3(NM_001127717:exon70:c.9343+2T>A;NM_198129:exon71:c.9511+2T>A;NM_001127718:exon33:c.4516+2T>A;NM_000227:exon34:c.4684+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9511+2T>A;ENST00000399516:exon70:c.9343+2T>A;ENST00000269217:exon34:c.4684+2T>A;ENST00000587184:exon33:c.4516+2T>A;ENST00000588004:exon1:c.32+2T>A)	.	.	0.999988247793601	0.93
18	21529890	T	C	18	23949926	y	y	splicing	LAMA3(NM_001127717:exon70:c.9343+2T>C;NM_198129:exon71:c.9511+2T>C;NM_001127718:exon33:c.4516+2T>C;NM_000227:exon34:c.4684+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9511+2T>C;ENST00000399516:exon70:c.9343+2T>C;ENST00000269217:exon34:c.4684+2T>C;ENST00000587184:exon33:c.4516+2T>C;ENST00000588004:exon1:c.32+2T>C)	.	.	0.99991522016916	0.884
18	21529890	T	G	18	23949926	y	y	splicing	LAMA3(NM_001127717:exon70:c.9343+2T>G;NM_198129:exon71:c.9511+2T>G;NM_001127718:exon33:c.4516+2T>G;NM_000227:exon34:c.4684+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon71:c.9511+2T>G;ENST00000399516:exon70:c.9343+2T>G;ENST00000269217:exon34:c.4684+2T>G;ENST00000587184:exon33:c.4516+2T>G;ENST00000588004:exon1:c.32+2T>G)	.	.	0.999988247793601	0.928
18	21529891	A	C	18	23949927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999688735800568	0.906
18	21529891	A	G	18	23949927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.30922050394319	0.434
18	21529891	A	T	18	23949927	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999755486107377	0.906
18	21529892	A	C	18	23949928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.960578042300845	0.768
18	21529892	A	G	18	23949928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.992798613504605	0.788
18	21529892	A	T	18	23949928	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.982104336863969	0.79
18	21529893	G	A	18	23949929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999128923133077	0.928
18	21529893	G	C	18	23949929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999972825799239	0.882
18	21529893	G	T	18	23949929	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999934492637637	0.904
18	21529894	G	A	18	23949930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.64135735311254E-5	0.004
18	21529894	G	C	18	23949930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.64135735311254E-5	0.002
18	21529894	G	T	18	23949930	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.9238475397574E-5	0.0
18	21529895	A	C	18	23949931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.13699567543885E-5	0.0
18	21529895	A	G	18	23949931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.13699567543885E-5	0.0
18	21529895	A	T	18	23949931	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.26886836036888E-5	0.004
18	21529896	G	A	18	23949932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.02124122027689E-4	0.004
18	21529896	G	C	18	23949932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.23225438322169E-4	0.124
18	21529896	G	T	18	23949932	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.53834561250318E-4	0.006
18	21529981	C	A	18	23950017	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.85623455179909E-4	0.05
18	21529981	C	G	18	23950017	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00118365060002913	0.13
18	21529981	C	T	18	23950017	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.65965658795311E-5	0.006
18	21529982	T	A	18	23950018	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00375220965429006	0.318
18	21529982	T	C	18	23950018	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00356596168223535	0.16
18	21529982	T	G	18	23950018	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00130702213842943	0.278
18	21529983	C	A	18	23950019	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.95092047224739E-4	0.144
18	21529983	C	G	18	23950019	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.23858823347205E-4	0.078
18	21529983	C	T	18	23950019	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.38707245942738E-4	0.006
18	21529984	T	A	18	23950020	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00117132987214857	0.152
18	21529984	T	C	18	23950020	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00123734848427226	0.05
18	21529984	T	G	18	23950020	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00481992376508286	0.18
18	21529985	T	A	18	23950021	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00215400994754412	0.182
18	21529985	T	C	18	23950021	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.6580975105883E-4	0.05
18	21529985	T	G	18	23950021	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00559642818198613	0.182
18	21529986	T	A	18	23950022	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.47687681086841E-4	0.06
18	21529986	T	C	18	23950022	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.65787831196856E-4	0.052
18	21529986	T	G	18	23950022	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.50932987188246E-4	0.054
18	21529987	T	A	18	23950023	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99888571642256	0.95
18	21529987	T	C	18	23950023	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.44979934341061E-5	0.008
18	21529987	T	G	18	23950023	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00115164513137459	0.088
18	21529988	G	A	18	23950024	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.05644088297784E-4	0.0
18	21529988	G	C	18	23950024	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.91409248225127E-5	0.03
18	21529988	G	T	18	23950024	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.40974903271242E-4	0.134
18	21529989	A	C	18	23950025	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.67474363209328E-4	0.012
18	21529989	A	G	18	23950025	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00120171333622397	0.05
18	21529989	A	T	18	23950025	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.74252308332066E-4	0.016
18	21529990	A	C	18	23950026	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.78032275924786E-4	0.056
18	21529990	A	G	18	23950026	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.588531741106095	0.486
18	21529990	A	T	18	23950026	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00103864453092014	0.036
18	21529991	A	C	18	23950027	y	y	splicing	LAMA3(NM_001127717:exon71:c.9344-2A>C;NM_198129:exon72:c.9512-2A>C;NM_001127718:exon34:c.4517-2A>C;NM_000227:exon35:c.4685-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9512-2A>C;ENST00000399516:exon71:c.9344-2A>C;ENST00000269217:exon35:c.4685-2A>C;ENST00000587184:exon34:c.4517-2A>C;ENST00000588004:exon2:c.33-2A>C)	.	.	0.999986741007567	0.942
18	21529991	A	G	18	23950027	y	y	splicing	LAMA3(NM_001127717:exon71:c.9344-2A>G;NM_198129:exon72:c.9512-2A>G;NM_001127718:exon34:c.4517-2A>G;NM_000227:exon35:c.4685-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9512-2A>G;ENST00000399516:exon71:c.9344-2A>G;ENST00000269217:exon35:c.4685-2A>G;ENST00000587184:exon34:c.4517-2A>G;ENST00000588004:exon2:c.33-2A>G)	.	.	0.999986741007567	0.942
18	21529991	A	T	18	23950027	y	y	splicing	LAMA3(NM_001127717:exon71:c.9344-2A>T;NM_198129:exon72:c.9512-2A>T;NM_001127718:exon34:c.4517-2A>T;NM_000227:exon35:c.4685-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9512-2A>T;ENST00000399516:exon71:c.9344-2A>T;ENST00000269217:exon35:c.4685-2A>T;ENST00000587184:exon34:c.4517-2A>T;ENST00000588004:exon2:c.33-2A>T)	.	.	0.999986741007567	0.942
18	21529992	G	A	18	23950028	y	y	splicing	LAMA3(NM_001127717:exon71:c.9344-1G>A;NM_198129:exon72:c.9512-1G>A;NM_001127718:exon34:c.4517-1G>A;NM_000227:exon35:c.4685-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9512-1G>A;ENST00000399516:exon71:c.9344-1G>A;ENST00000269217:exon35:c.4685-1G>A;ENST00000587184:exon34:c.4517-1G>A;ENST00000588004:exon2:c.33-1G>A)	.	.	0.999983677848485	0.944
18	21529992	G	C	18	23950028	y	y	splicing	LAMA3(NM_001127717:exon71:c.9344-1G>C;NM_198129:exon72:c.9512-1G>C;NM_001127718:exon34:c.4517-1G>C;NM_000227:exon35:c.4685-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9512-1G>C;ENST00000399516:exon71:c.9344-1G>C;ENST00000269217:exon35:c.4685-1G>C;ENST00000587184:exon34:c.4517-1G>C;ENST00000588004:exon2:c.33-1G>C)	.	.	0.999983677848485	0.942
18	21529992	G	T	18	23950028	y	y	splicing	LAMA3(NM_001127717:exon71:c.9344-1G>T;NM_198129:exon72:c.9512-1G>T;NM_001127718:exon34:c.4517-1G>T;NM_000227:exon35:c.4685-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9512-1G>T;ENST00000399516:exon71:c.9344-1G>T;ENST00000269217:exon35:c.4685-1G>T;ENST00000587184:exon34:c.4517-1G>T;ENST00000588004:exon2:c.33-1G>T)	.	.	0.999983677848485	0.944
18	21529993	C	A	18	23950029	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.C9512A:p.A3171D;LAMA3:NM_001127718:exon34:c.C4517A:p.A1506D;LAMA3:NM_001127717:exon71:c.C9344A:p.A3115D;LAMA3:NM_000227:exon35:c.C4685A:p.A1562D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.C4685A:p.A1562D;ENSG00000053747:ENST00000587184:exon34:c.C4517A:p.A1506D;ENSG00000053747:ENST00000399516:exon71:c.C9344A:p.A3115D;ENSG00000053747:ENST00000313654:exon72:c.C9512A:p.A3171D;	2.1605288402041E-4	0.024
18	21529993	C	G	18	23950029	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.C9512G:p.A3171G;LAMA3:NM_001127718:exon34:c.C4517G:p.A1506G;LAMA3:NM_001127717:exon71:c.C9344G:p.A3115G;LAMA3:NM_000227:exon35:c.C4685G:p.A1562G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.C4685G:p.A1562G;ENSG00000053747:ENST00000587184:exon34:c.C4517G:p.A1506G;ENSG00000053747:ENST00000399516:exon71:c.C9344G:p.A3115G;ENSG00000053747:ENST00000313654:exon72:c.C9512G:p.A3171G;	2.9691020651901E-4	0.202
18	21529993	C	T	18	23950029	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.C9512T:p.A3171V;LAMA3:NM_001127718:exon34:c.C4517T:p.A1506V;LAMA3:NM_001127717:exon71:c.C9344T:p.A3115V;LAMA3:NM_000227:exon35:c.C4685T:p.A1562V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.C4685T:p.A1562V;ENSG00000053747:ENST00000587184:exon34:c.C4517T:p.A1506V;ENSG00000053747:ENST00000399516:exon71:c.C9344T:p.A3115V;ENSG00000053747:ENST00000313654:exon72:c.C9512T:p.A3171V;	0.00823186915019792	0.31
18	21529994	T	A	18	23950030	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon72:c.T9513A:p.A3171A;LAMA3:NM_001127718:exon34:c.T4518A:p.A1506A;LAMA3:NM_001127717:exon71:c.T9345A:p.A3115A;LAMA3:NM_000227:exon35:c.T4686A:p.A1562A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.T4686A:p.A1562A;ENSG00000053747:ENST00000587184:exon34:c.T4518A:p.A1506A;ENSG00000053747:ENST00000399516:exon71:c.T9345A:p.A3115A;ENSG00000053747:ENST00000313654:exon72:c.T9513A:p.A3171A;	0.00109927802677272	0.078
18	21529994	T	C	18	23950030	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon72:c.T9513C:p.A3171A;LAMA3:NM_001127718:exon34:c.T4518C:p.A1506A;LAMA3:NM_001127717:exon71:c.T9345C:p.A3115A;LAMA3:NM_000227:exon35:c.T4686C:p.A1562A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.T4686C:p.A1562A;ENSG00000053747:ENST00000587184:exon34:c.T4518C:p.A1506A;ENSG00000053747:ENST00000399516:exon71:c.T9345C:p.A3115A;ENSG00000053747:ENST00000313654:exon72:c.T9513C:p.A3171A;	3.98622498197065E-4	0.092
18	21529994	T	G	18	23950030	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon72:c.T9513G:p.A3171A;LAMA3:NM_001127718:exon34:c.T4518G:p.A1506A;LAMA3:NM_001127717:exon71:c.T9345G:p.A3115A;LAMA3:NM_000227:exon35:c.T4686G:p.A1562A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.T4686G:p.A1562A;ENSG00000053747:ENST00000587184:exon34:c.T4518G:p.A1506A;ENSG00000053747:ENST00000399516:exon71:c.T9345G:p.A3115A;ENSG00000053747:ENST00000313654:exon72:c.T9513G:p.A3171A;	3.13037795375682E-4	0.074
18	21530121	A	C	18	23950157	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.A9640C:p.K3214Q;LAMA3:NM_001127718:exon34:c.A4645C:p.K1549Q;LAMA3:NM_001127717:exon71:c.A9472C:p.K3158Q;LAMA3:NM_000227:exon35:c.A4813C:p.K1605Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.A4813C:p.K1605Q;ENSG00000053747:ENST00000587184:exon34:c.A4645C:p.K1549Q;ENSG00000053747:ENST00000399516:exon71:c.A9472C:p.K3158Q;ENSG00000053747:ENST00000313654:exon72:c.A9640C:p.K3214Q;	3.45013403709888E-4	0.004
18	21530121	A	G	18	23950157	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.A9640G:p.K3214E;LAMA3:NM_001127718:exon34:c.A4645G:p.K1549E;LAMA3:NM_001127717:exon71:c.A9472G:p.K3158E;LAMA3:NM_000227:exon35:c.A4813G:p.K1605E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.A4813G:p.K1605E;ENSG00000053747:ENST00000587184:exon34:c.A4645G:p.K1549E;ENSG00000053747:ENST00000399516:exon71:c.A9472G:p.K3158E;ENSG00000053747:ENST00000313654:exon72:c.A9640G:p.K3214E;	3.44201514842898E-4	0.012
18	21530121	A	T	18	23950157	y	y	exonic	LAMA3	stopgain SNV	LAMA3:NM_198129:exon72:c.A9640T:p.K3214X;LAMA3:NM_001127718:exon34:c.A4645T:p.K1549X;LAMA3:NM_001127717:exon71:c.A9472T:p.K3158X;LAMA3:NM_000227:exon35:c.A4813T:p.K1605X;	exonic	ENSG00000053747	stopgain SNV	ENSG00000053747:ENST00000269217:exon35:c.A4813T:p.K1605X;ENSG00000053747:ENST00000587184:exon34:c.A4645T:p.K1549X;ENSG00000053747:ENST00000399516:exon71:c.A9472T:p.K3158X;ENSG00000053747:ENST00000313654:exon72:c.A9640T:p.K3214X;	0.673930324328172	0.628
18	21530122	A	C	18	23950158	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.A9641C:p.K3214T;LAMA3:NM_001127718:exon34:c.A4646C:p.K1549T;LAMA3:NM_001127717:exon71:c.A9473C:p.K3158T;LAMA3:NM_000227:exon35:c.A4814C:p.K1605T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.A4814C:p.K1605T;ENSG00000053747:ENST00000587184:exon34:c.A4646C:p.K1549T;ENSG00000053747:ENST00000399516:exon71:c.A9473C:p.K3158T;ENSG00000053747:ENST00000313654:exon72:c.A9641C:p.K3214T;	0.998256031276263	0.962
18	21530122	A	G	18	23950158	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.A9641G:p.K3214R;LAMA3:NM_001127718:exon34:c.A4646G:p.K1549R;LAMA3:NM_001127717:exon71:c.A9473G:p.K3158R;LAMA3:NM_000227:exon35:c.A4814G:p.K1605R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.A4814G:p.K1605R;ENSG00000053747:ENST00000587184:exon34:c.A4646G:p.K1549R;ENSG00000053747:ENST00000399516:exon71:c.A9473G:p.K3158R;ENSG00000053747:ENST00000313654:exon72:c.A9641G:p.K3214R;	0.999858469879496	0.996
18	21530122	A	T	18	23950158	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.A9641T:p.K3214M;LAMA3:NM_001127718:exon34:c.A4646T:p.K1549M;LAMA3:NM_001127717:exon71:c.A9473T:p.K3158M;LAMA3:NM_000227:exon35:c.A4814T:p.K1605M;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.A4814T:p.K1605M;ENSG00000053747:ENST00000587184:exon34:c.A4646T:p.K1549M;ENSG00000053747:ENST00000399516:exon71:c.A9473T:p.K3158M;ENSG00000053747:ENST00000313654:exon72:c.A9641T:p.K3214M;	0.999778386360069	0.996
18	21530123	G	A	18	23950159	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon72:c.G9642A:p.K3214K;LAMA3:NM_001127718:exon34:c.G4647A:p.K1549K;LAMA3:NM_001127717:exon71:c.G9474A:p.K3158K;LAMA3:NM_000227:exon35:c.G4815A:p.K1605K;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.G4815A:p.K1605K;ENSG00000053747:ENST00000587184:exon34:c.G4647A:p.K1549K;ENSG00000053747:ENST00000399516:exon71:c.G9474A:p.K3158K;ENSG00000053747:ENST00000313654:exon72:c.G9642A:p.K3214K;	0.999526522127051	0.782
18	21530123	G	C	18	23950159	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.G9642C:p.K3214N;LAMA3:NM_001127718:exon34:c.G4647C:p.K1549N;LAMA3:NM_001127717:exon71:c.G9474C:p.K3158N;LAMA3:NM_000227:exon35:c.G4815C:p.K1605N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.G4815C:p.K1605N;ENSG00000053747:ENST00000587184:exon34:c.G4647C:p.K1549N;ENSG00000053747:ENST00000399516:exon71:c.G9474C:p.K3158N;ENSG00000053747:ENST00000313654:exon72:c.G9642C:p.K3214N;	0.999997631927708	0.994
18	21530123	G	T	18	23950159	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon72:c.G9642T:p.K3214N;LAMA3:NM_001127718:exon34:c.G4647T:p.K1549N;LAMA3:NM_001127717:exon71:c.G9474T:p.K3158N;LAMA3:NM_000227:exon35:c.G4815T:p.K1605N;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon35:c.G4815T:p.K1605N;ENSG00000053747:ENST00000587184:exon34:c.G4647T:p.K1549N;ENSG00000053747:ENST00000399516:exon71:c.G9474T:p.K3158N;ENSG00000053747:ENST00000313654:exon72:c.G9642T:p.K3214N;	0.999994424254236	0.994
18	21530124	G	A	18	23950160	y	y	splicing	LAMA3(NM_001127717:exon71:c.9474+1G>A;NM_198129:exon72:c.9642+1G>A;NM_001127718:exon34:c.4647+1G>A;NM_000227:exon35:c.4815+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9642+1G>A;ENST00000399516:exon71:c.9474+1G>A;ENST00000269217:exon35:c.4815+1G>A;ENST00000587184:exon34:c.4647+1G>A;ENST00000588004:exon2:c.163+1G>A)	.	.	0.99995545544995	0.934
18	21530124	G	C	18	23950160	y	y	splicing	LAMA3(NM_001127717:exon71:c.9474+1G>C;NM_198129:exon72:c.9642+1G>C;NM_001127718:exon34:c.4647+1G>C;NM_000227:exon35:c.4815+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9642+1G>C;ENST00000399516:exon71:c.9474+1G>C;ENST00000269217:exon35:c.4815+1G>C;ENST00000587184:exon34:c.4647+1G>C;ENST00000588004:exon2:c.163+1G>C)	.	.	0.99995545544995	0.944
18	21530124	G	T	18	23950160	y	y	splicing	LAMA3(NM_001127717:exon71:c.9474+1G>T;NM_198129:exon72:c.9642+1G>T;NM_001127718:exon34:c.4647+1G>T;NM_000227:exon35:c.4815+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9642+1G>T;ENST00000399516:exon71:c.9474+1G>T;ENST00000269217:exon35:c.4815+1G>T;ENST00000587184:exon34:c.4647+1G>T;ENST00000588004:exon2:c.163+1G>T)	.	.	0.99995545544995	0.936
18	21530125	T	A	18	23950161	y	y	splicing	LAMA3(NM_001127717:exon71:c.9474+2T>A;NM_198129:exon72:c.9642+2T>A;NM_001127718:exon34:c.4647+2T>A;NM_000227:exon35:c.4815+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9642+2T>A;ENST00000399516:exon71:c.9474+2T>A;ENST00000269217:exon35:c.4815+2T>A;ENST00000587184:exon34:c.4647+2T>A;ENST00000588004:exon2:c.163+2T>A)	.	.	0.99994568797423	0.944
18	21530125	T	C	18	23950161	y	y	splicing	LAMA3(NM_001127717:exon71:c.9474+2T>C;NM_198129:exon72:c.9642+2T>C;NM_001127718:exon34:c.4647+2T>C;NM_000227:exon35:c.4815+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9642+2T>C;ENST00000399516:exon71:c.9474+2T>C;ENST00000269217:exon35:c.4815+2T>C;ENST00000587184:exon34:c.4647+2T>C;ENST00000588004:exon2:c.163+2T>C)	.	.	0.999688424215117	0.922
18	21530125	T	G	18	23950161	y	y	splicing	LAMA3(NM_001127717:exon71:c.9474+2T>G;NM_198129:exon72:c.9642+2T>G;NM_001127718:exon34:c.4647+2T>G;NM_000227:exon35:c.4815+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon72:c.9642+2T>G;ENST00000399516:exon71:c.9474+2T>G;ENST00000269217:exon35:c.4815+2T>G;ENST00000587184:exon34:c.4647+2T>G;ENST00000588004:exon2:c.163+2T>G)	.	.	0.99994568797423	0.948
18	21530126	G	A	18	23950162	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.0888293574395E-5	0.14
18	21530126	G	C	18	23950162	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0017368160761131	0.302
18	21530126	G	T	18	23950162	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.95118680202115E-4	0.25
18	21530127	T	A	18	23950163	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.07898960539059E-5	0.076
18	21530127	T	C	18	23950163	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.22690329229257E-5	0.004
18	21530127	T	G	18	23950163	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.95560613574929E-5	0.006
18	21530128	G	A	18	23950164	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998671300197473	0.914
18	21530128	G	C	18	23950164	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999747641661944	0.866
18	21530128	G	T	18	23950164	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999910482291564	0.918
18	21530129	T	A	18	23950165	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.688991320801345	0.518
18	21530129	T	C	18	23950165	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.143534162617546	0.384
18	21530129	T	G	18	23950165	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.153017631728004	0.388
18	21530130	A	C	18	23950166	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.22921698973706E-4	0.0
18	21530130	A	G	18	23950166	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.48774700995798E-4	0.034
18	21530130	A	T	18	23950166	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.1236808363389E-4	0.074
18	21530131	G	A	18	23950167	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.9199618549817E-5	0.006
18	21530131	G	C	18	23950167	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.07403041009065E-4	0.006
18	21530131	G	T	18	23950167	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.73857342015837E-5	0.006
18	21531636	T	A	18	23951672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999919081278082	0.986
18	21531636	T	C	18	23951672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0165067173746564	0.126
18	21531636	T	G	18	23951672	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999872958397519	0.98
18	21531637	G	A	18	23951673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00190834680157025	0.052
18	21531637	G	C	18	23951673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.24334789670569E-4	0.002
18	21531637	G	T	18	23951673	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.18101382721663E-5	0.036
18	21531638	T	A	18	23951674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99993867638239	0.936
18	21531638	T	C	18	23951674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0195421667417679	0.194
18	21531638	T	G	18	23951674	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.990820503201824	0.828
18	21531639	G	A	18	23951675	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0022281771826999	0.096
18	21531639	G	C	18	23951675	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.03353982602107E-4	0.006
18	21531639	G	T	18	23951675	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.35043080317221E-4	0.02
18	21531640	T	A	18	23951676	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999935734695788	0.962
18	21531640	T	C	18	23951676	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.012271248376558	0.122
18	21531640	T	G	18	23951676	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.945395313282734	0.75
18	21531641	G	A	18	23951677	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00377041016572034	0.088
18	21531641	G	C	18	23951677	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.40786861851487E-4	0.006
18	21531641	G	T	18	23951677	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.1636806486602E-5	0.008
18	21531642	T	A	18	23951678	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99274818388565	0.814
18	21531642	T	C	18	23951678	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0054599612741622	0.124
18	21531642	T	G	18	23951678	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.996561804637086	0.808
18	21531643	T	A	18	23951679	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.84838800444033	0.59
18	21531643	T	C	18	23951679	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0276355575554311	0.294
18	21531643	T	G	18	23951679	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.478005857954002	0.57
18	21531644	C	A	18	23951680	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.66656681143675E-5	0.0
18	21531644	C	G	18	23951680	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.52231355624376E-4	0.01
18	21531644	C	T	18	23951680	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.02829621720394E-5	0.0
18	21531645	C	A	18	23951681	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.954909672966674	0.688
18	21531645	C	G	18	23951681	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999849459669429	0.714
18	21531645	C	T	18	23951681	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.14993664533663E-4	0.054
18	21531646	A	C	18	23951682	y	y	splicing	LAMA3(NM_001127717:exon72:c.9475-2A>C;NM_198129:exon73:c.9643-2A>C;NM_001127718:exon35:c.4648-2A>C;NM_000227:exon36:c.4816-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9643-2A>C;ENST00000399516:exon72:c.9475-2A>C;ENST00000269217:exon36:c.4816-2A>C;ENST00000587184:exon35:c.4648-2A>C;ENST00000588004:exon3:c.164-2A>C)	.	.	0.999989917668626	0.952
18	21531646	A	G	18	23951682	y	y	splicing	LAMA3(NM_001127717:exon72:c.9475-2A>G;NM_198129:exon73:c.9643-2A>G;NM_001127718:exon35:c.4648-2A>G;NM_000227:exon36:c.4816-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9643-2A>G;ENST00000399516:exon72:c.9475-2A>G;ENST00000269217:exon36:c.4816-2A>G;ENST00000587184:exon35:c.4648-2A>G;ENST00000588004:exon3:c.164-2A>G)	.	.	0.999989917668626	0.952
18	21531646	A	T	18	23951682	y	y	splicing	LAMA3(NM_001127717:exon72:c.9475-2A>T;NM_198129:exon73:c.9643-2A>T;NM_001127718:exon35:c.4648-2A>T;NM_000227:exon36:c.4816-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9643-2A>T;ENST00000399516:exon72:c.9475-2A>T;ENST00000269217:exon36:c.4816-2A>T;ENST00000587184:exon35:c.4648-2A>T;ENST00000588004:exon3:c.164-2A>T)	.	.	0.999989917668626	0.952
18	21531647	G	A	18	23951683	y	y	splicing	LAMA3(NM_001127717:exon72:c.9475-1G>A;NM_198129:exon73:c.9643-1G>A;NM_001127718:exon35:c.4648-1G>A;NM_000227:exon36:c.4816-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9643-1G>A;ENST00000399516:exon72:c.9475-1G>A;ENST00000269217:exon36:c.4816-1G>A;ENST00000587184:exon35:c.4648-1G>A;ENST00000588004:exon3:c.164-1G>A)	.	.	0.999981760802075	0.96
18	21531647	G	C	18	23951683	y	y	splicing	LAMA3(NM_001127717:exon72:c.9475-1G>C;NM_198129:exon73:c.9643-1G>C;NM_001127718:exon35:c.4648-1G>C;NM_000227:exon36:c.4816-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9643-1G>C;ENST00000399516:exon72:c.9475-1G>C;ENST00000269217:exon36:c.4816-1G>C;ENST00000587184:exon35:c.4648-1G>C;ENST00000588004:exon3:c.164-1G>C)	.	.	0.999981760802075	0.96
18	21531647	G	T	18	23951683	y	y	splicing	LAMA3(NM_001127717:exon72:c.9475-1G>T;NM_198129:exon73:c.9643-1G>T;NM_001127718:exon35:c.4648-1G>T;NM_000227:exon36:c.4816-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9643-1G>T;ENST00000399516:exon72:c.9475-1G>T;ENST00000269217:exon36:c.4816-1G>T;ENST00000587184:exon35:c.4648-1G>T;ENST00000588004:exon3:c.164-1G>T)	.	.	0.999981760802075	0.96
18	21531648	G	A	18	23951684	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.G9643A:p.V3215I;LAMA3:NM_001127718:exon35:c.G4648A:p.V1550I;LAMA3:NM_001127717:exon72:c.G9475A:p.V3159I;LAMA3:NM_000227:exon36:c.G4816A:p.V1606I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.G4816A:p.V1606I;ENSG00000053747:ENST00000587184:exon35:c.G4648A:p.V1550I;ENSG00000053747:ENST00000399516:exon72:c.G9475A:p.V3159I;ENSG00000053747:ENST00000313654:exon73:c.G9643A:p.V3215I;	0.225582918184741	0.354
18	21531648	G	C	18	23951684	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.G9643C:p.V3215L;LAMA3:NM_001127718:exon35:c.G4648C:p.V1550L;LAMA3:NM_001127717:exon72:c.G9475C:p.V3159L;LAMA3:NM_000227:exon36:c.G4816C:p.V1606L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.G4816C:p.V1606L;ENSG00000053747:ENST00000587184:exon35:c.G4648C:p.V1550L;ENSG00000053747:ENST00000399516:exon72:c.G9475C:p.V3159L;ENSG00000053747:ENST00000313654:exon73:c.G9643C:p.V3215L;	0.622148425458771	0.674
18	21531648	G	T	18	23951684	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.G9643T:p.V3215F;LAMA3:NM_001127718:exon35:c.G4648T:p.V1550F;LAMA3:NM_001127717:exon72:c.G9475T:p.V3159F;LAMA3:NM_000227:exon36:c.G4816T:p.V1606F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.G4816T:p.V1606F;ENSG00000053747:ENST00000587184:exon35:c.G4648T:p.V1550F;ENSG00000053747:ENST00000399516:exon72:c.G9475T:p.V3159F;ENSG00000053747:ENST00000313654:exon73:c.G9643T:p.V3215F;	0.998753305767678	0.93
18	21531649	T	A	18	23951685	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.T9644A:p.V3215D;LAMA3:NM_001127718:exon35:c.T4649A:p.V1550D;LAMA3:NM_001127717:exon72:c.T9476A:p.V3159D;LAMA3:NM_000227:exon36:c.T4817A:p.V1606D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.T4817A:p.V1606D;ENSG00000053747:ENST00000587184:exon35:c.T4649A:p.V1550D;ENSG00000053747:ENST00000399516:exon72:c.T9476A:p.V3159D;ENSG00000053747:ENST00000313654:exon73:c.T9644A:p.V3215D;	0.413645492940038	0.412
18	21531649	T	C	18	23951685	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.T9644C:p.V3215A;LAMA3:NM_001127718:exon35:c.T4649C:p.V1550A;LAMA3:NM_001127717:exon72:c.T9476C:p.V3159A;LAMA3:NM_000227:exon36:c.T4817C:p.V1606A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.T4817C:p.V1606A;ENSG00000053747:ENST00000587184:exon35:c.T4649C:p.V1550A;ENSG00000053747:ENST00000399516:exon72:c.T9476C:p.V3159A;ENSG00000053747:ENST00000313654:exon73:c.T9644C:p.V3215A;	0.375760932046666	0.352
18	21531649	T	G	18	23951685	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.T9644G:p.V3215G;LAMA3:NM_001127718:exon35:c.T4649G:p.V1550G;LAMA3:NM_001127717:exon72:c.T9476G:p.V3159G;LAMA3:NM_000227:exon36:c.T4817G:p.V1606G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.T4817G:p.V1606G;ENSG00000053747:ENST00000587184:exon35:c.T4649G:p.V1550G;ENSG00000053747:ENST00000399516:exon72:c.T9476G:p.V3159G;ENSG00000053747:ENST00000313654:exon73:c.T9644G:p.V3215G;	0.441191682421743	0.43
18	21531739	C	A	18	23951775	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.C9734A:p.A3245E;LAMA3:NM_001127718:exon35:c.C4739A:p.A1580E;LAMA3:NM_001127717:exon72:c.C9566A:p.A3189E;LAMA3:NM_000227:exon36:c.C4907A:p.A1636E;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.C4907A:p.A1636E;ENSG00000053747:ENST00000587184:exon35:c.C4739A:p.A1580E;ENSG00000053747:ENST00000399516:exon72:c.C9566A:p.A3189E;ENSG00000053747:ENST00000313654:exon73:c.C9734A:p.A3245E;	0.915739457310645	0.802
18	21531739	C	G	18	23951775	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.C9734G:p.A3245G;LAMA3:NM_001127718:exon35:c.C4739G:p.A1580G;LAMA3:NM_001127717:exon72:c.C9566G:p.A3189G;LAMA3:NM_000227:exon36:c.C4907G:p.A1636G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.C4907G:p.A1636G;ENSG00000053747:ENST00000587184:exon35:c.C4739G:p.A1580G;ENSG00000053747:ENST00000399516:exon72:c.C9566G:p.A3189G;ENSG00000053747:ENST00000313654:exon73:c.C9734G:p.A3245G;	0.822292075891763	0.6
18	21531739	C	T	18	23951775	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.C9734T:p.A3245V;LAMA3:NM_001127718:exon35:c.C4739T:p.A1580V;LAMA3:NM_001127717:exon72:c.C9566T:p.A3189V;LAMA3:NM_000227:exon36:c.C4907T:p.A1636V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.C4907T:p.A1636V;ENSG00000053747:ENST00000587184:exon35:c.C4739T:p.A1580V;ENSG00000053747:ENST00000399516:exon72:c.C9566T:p.A3189V;ENSG00000053747:ENST00000313654:exon73:c.C9734T:p.A3245V;	0.994440325405998	0.868
18	21531740	A	C	18	23951776	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon73:c.A9735C:p.A3245A;LAMA3:NM_001127718:exon35:c.A4740C:p.A1580A;LAMA3:NM_001127717:exon72:c.A9567C:p.A3189A;LAMA3:NM_000227:exon36:c.A4908C:p.A1636A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.A4908C:p.A1636A;ENSG00000053747:ENST00000587184:exon35:c.A4740C:p.A1580A;ENSG00000053747:ENST00000399516:exon72:c.A9567C:p.A3189A;ENSG00000053747:ENST00000313654:exon73:c.A9735C:p.A3245A;	0.916262159524234	0.706
18	21531740	A	G	18	23951776	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon73:c.A9735G:p.A3245A;LAMA3:NM_001127718:exon35:c.A4740G:p.A1580A;LAMA3:NM_001127717:exon72:c.A9567G:p.A3189A;LAMA3:NM_000227:exon36:c.A4908G:p.A1636A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.A4908G:p.A1636A;ENSG00000053747:ENST00000587184:exon35:c.A4740G:p.A1580A;ENSG00000053747:ENST00000399516:exon72:c.A9567G:p.A3189A;ENSG00000053747:ENST00000313654:exon73:c.A9735G:p.A3245A;	0.91183806342174	0.694
18	21531740	A	T	18	23951776	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon73:c.A9735T:p.A3245A;LAMA3:NM_001127718:exon35:c.A4740T:p.A1580A;LAMA3:NM_001127717:exon72:c.A9567T:p.A3189A;LAMA3:NM_000227:exon36:c.A4908T:p.A1636A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.A4908T:p.A1636A;ENSG00000053747:ENST00000587184:exon35:c.A4740T:p.A1580A;ENSG00000053747:ENST00000399516:exon72:c.A9567T:p.A3189A;ENSG00000053747:ENST00000313654:exon73:c.A9735T:p.A3245A;	0.929998023012971	0.8
18	21531741	G	A	18	23951777	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.G9736A:p.V3246I;LAMA3:NM_001127718:exon35:c.G4741A:p.V1581I;LAMA3:NM_001127717:exon72:c.G9568A:p.V3190I;LAMA3:NM_000227:exon36:c.G4909A:p.V1637I;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.G4909A:p.V1637I;ENSG00000053747:ENST00000587184:exon35:c.G4741A:p.V1581I;ENSG00000053747:ENST00000399516:exon72:c.G9568A:p.V3190I;ENSG00000053747:ENST00000313654:exon73:c.G9736A:p.V3246I;	0.999920189228308	0.99
18	21531741	G	C	18	23951777	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.G9736C:p.V3246L;LAMA3:NM_001127718:exon35:c.G4741C:p.V1581L;LAMA3:NM_001127717:exon72:c.G9568C:p.V3190L;LAMA3:NM_000227:exon36:c.G4909C:p.V1637L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.G4909C:p.V1637L;ENSG00000053747:ENST00000587184:exon35:c.G4741C:p.V1581L;ENSG00000053747:ENST00000399516:exon72:c.G9568C:p.V3190L;ENSG00000053747:ENST00000313654:exon73:c.G9736C:p.V3246L;	0.99998381933542	0.986
18	21531741	G	T	18	23951777	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon73:c.G9736T:p.V3246F;LAMA3:NM_001127718:exon35:c.G4741T:p.V1581F;LAMA3:NM_001127717:exon72:c.G9568T:p.V3190F;LAMA3:NM_000227:exon36:c.G4909T:p.V1637F;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon36:c.G4909T:p.V1637F;ENSG00000053747:ENST00000587184:exon35:c.G4741T:p.V1581F;ENSG00000053747:ENST00000399516:exon72:c.G9568T:p.V3190F;ENSG00000053747:ENST00000313654:exon73:c.G9736T:p.V3246F;	0.999973147473037	0.996
18	21531742	G	A	18	23951778	y	y	splicing	LAMA3(NM_001127717:exon72:c.9568+1G>A;NM_198129:exon73:c.9736+1G>A;NM_001127718:exon35:c.4741+1G>A;NM_000227:exon36:c.4909+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9736+1G>A;ENST00000399516:exon72:c.9568+1G>A;ENST00000269217:exon36:c.4909+1G>A;ENST00000587184:exon35:c.4741+1G>A;ENST00000588004:exon3:c.257+1G>A)	.	.	0.999985532734767	0.938
18	21531742	G	C	18	23951778	y	y	splicing	LAMA3(NM_001127717:exon72:c.9568+1G>C;NM_198129:exon73:c.9736+1G>C;NM_001127718:exon35:c.4741+1G>C;NM_000227:exon36:c.4909+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9736+1G>C;ENST00000399516:exon72:c.9568+1G>C;ENST00000269217:exon36:c.4909+1G>C;ENST00000587184:exon35:c.4741+1G>C;ENST00000588004:exon3:c.257+1G>C)	.	.	0.999985532734767	0.938
18	21531742	G	T	18	23951778	y	y	splicing	LAMA3(NM_001127717:exon72:c.9568+1G>T;NM_198129:exon73:c.9736+1G>T;NM_001127718:exon35:c.4741+1G>T;NM_000227:exon36:c.4909+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9736+1G>T;ENST00000399516:exon72:c.9568+1G>T;ENST00000269217:exon36:c.4909+1G>T;ENST00000587184:exon35:c.4741+1G>T;ENST00000588004:exon3:c.257+1G>T)	.	.	0.999985532734767	0.938
18	21531743	T	A	18	23951779	y	y	splicing	LAMA3(NM_001127717:exon72:c.9568+2T>A;NM_198129:exon73:c.9736+2T>A;NM_001127718:exon35:c.4741+2T>A;NM_000227:exon36:c.4909+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9736+2T>A;ENST00000399516:exon72:c.9568+2T>A;ENST00000269217:exon36:c.4909+2T>A;ENST00000587184:exon35:c.4741+2T>A;ENST00000588004:exon3:c.257+2T>A)	.	.	0.999988247793601	0.926
18	21531743	T	C	18	23951779	y	y	splicing	LAMA3(NM_001127717:exon72:c.9568+2T>C;NM_198129:exon73:c.9736+2T>C;NM_001127718:exon35:c.4741+2T>C;NM_000227:exon36:c.4909+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9736+2T>C;ENST00000399516:exon72:c.9568+2T>C;ENST00000269217:exon36:c.4909+2T>C;ENST00000587184:exon35:c.4741+2T>C;ENST00000588004:exon3:c.257+2T>C)	.	.	0.988163425542712	0.608
18	21531743	T	G	18	23951779	y	y	splicing	LAMA3(NM_001127717:exon72:c.9568+2T>G;NM_198129:exon73:c.9736+2T>G;NM_001127718:exon35:c.4741+2T>G;NM_000227:exon36:c.4909+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon73:c.9736+2T>G;ENST00000399516:exon72:c.9568+2T>G;ENST00000269217:exon36:c.4909+2T>G;ENST00000587184:exon35:c.4741+2T>G;ENST00000588004:exon3:c.257+2T>G)	.	.	0.999988247793601	0.926
18	21531744	A	C	18	23951780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.98558095695742	0.824
18	21531744	A	G	18	23951780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.967928597518907	0.794
18	21531744	A	T	18	23951780	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.9932198726677	0.728
18	21531745	T	A	18	23951781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.59916028593449E-5	0.018
18	21531745	T	C	18	23951781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.70062140577359E-5	0.0
18	21531745	T	G	18	23951781	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.53121591472403E-5	0.006
18	21531746	G	A	18	23951782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.227602178321138	0.436
18	21531746	G	C	18	23951782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.647014453529664	0.486
18	21531746	G	T	18	23951782	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.728948749221238	0.486
18	21531747	T	A	18	23951783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.80743186266388E-4	0.028
18	21531747	T	C	18	23951783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0019201708889216	0.062
18	21531747	T	G	18	23951783	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.7686430104672E-4	0.032
18	21531748	T	A	18	23951784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.04900693216345E-6	0.0
18	21531748	T	C	18	23951784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.04900693216345E-6	0.0
18	21531748	T	G	18	23951784	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.6815803950322E-6	0.0
18	21531749	G	A	18	23951785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.17486155721189E-5	0.0
18	21531749	G	C	18	23951785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.44401018837748E-5	0.002
18	21531749	G	T	18	23951785	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.44401018837748E-5	0.0
18	21532942	T	A	18	23952978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.339842103836795	0.46
18	21532942	T	C	18	23952978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0248944248606892	0.23
18	21532942	T	G	18	23952978	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.385743128691982	0.416
18	21532943	C	A	18	23952979	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00136838538875123	0.182
18	21532943	C	G	18	23952979	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.58275666158881E-4	0.044
18	21532943	C	T	18	23952979	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.0241639572211E-5	0.0
18	21532944	C	A	18	23952980	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.07454973674021E-4	0.048
18	21532944	C	G	18	23952980	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.31368485555458E-4	0.032
18	21532944	C	T	18	23952980	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.84308486853468E-5	0.008
18	21532945	T	A	18	23952981	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00717153997788623	0.116
18	21532945	T	C	18	23952981	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.662590739063E-4	0.032
18	21532945	T	G	18	23952981	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00529980342296677	0.106
18	21532946	T	A	18	23952982	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.36495641640331E-4	0.084
18	21532946	T	C	18	23952982	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.45037200158066E-5	0.0
18	21532946	T	G	18	23952982	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	5.02648613251749E-4	0.146
18	21532947	T	A	18	23952983	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00368264476453719	0.122
18	21532947	T	C	18	23952983	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.72831955238206E-5	0.018
18	21532947	T	G	18	23952983	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00159593324374073	0.064
18	21532948	C	A	18	23952984	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0127784712657046	0.228
18	21532948	C	G	18	23952984	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0125467323829226	0.228
18	21532948	C	T	18	23952984	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.2491425627049E-4	0.086
18	21532949	C	A	18	23952985	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00159696558713851	0.068
18	21532949	C	G	18	23952985	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0249101803847292	0.27
18	21532949	C	T	18	23952985	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.50638694957272E-5	0.018
18	21532950	C	A	18	23952986	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	8.07926525944676E-5	0.024
18	21532950	C	G	18	23952986	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.29171329668986E-4	0.102
18	21532950	C	T	18	23952986	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.12500584546266E-4	0.04
18	21532951	C	A	18	23952987	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998935859314764	0.968
18	21532951	C	G	18	23952987	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999953568162915	0.996
18	21532951	C	T	18	23952987	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0771290550999507	0.214
18	21532952	A	C	18	23952988	y	y	splicing	LAMA3(NM_001127717:exon73:c.9569-2A>C;NM_198129:exon74:c.9737-2A>C;NM_001127718:exon36:c.4742-2A>C;NM_000227:exon37:c.4910-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9737-2A>C;ENST00000399516:exon73:c.9569-2A>C;ENST00000269217:exon37:c.4910-2A>C;ENST00000587184:exon36:c.4742-2A>C)	.	.	0.999986741007567	0.944
18	21532952	A	G	18	23952988	y	y	splicing	LAMA3(NM_001127717:exon73:c.9569-2A>G;NM_198129:exon74:c.9737-2A>G;NM_001127718:exon36:c.4742-2A>G;NM_000227:exon37:c.4910-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9737-2A>G;ENST00000399516:exon73:c.9569-2A>G;ENST00000269217:exon37:c.4910-2A>G;ENST00000587184:exon36:c.4742-2A>G)	.	.	0.999986741007567	0.944
18	21532952	A	T	18	23952988	y	y	splicing	LAMA3(NM_001127717:exon73:c.9569-2A>T;NM_198129:exon74:c.9737-2A>T;NM_001127718:exon36:c.4742-2A>T;NM_000227:exon37:c.4910-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9737-2A>T;ENST00000399516:exon73:c.9569-2A>T;ENST00000269217:exon37:c.4910-2A>T;ENST00000587184:exon36:c.4742-2A>T)	.	.	0.999986741007567	0.944
18	21532953	G	A	18	23952989	y	y	splicing	LAMA3(NM_001127717:exon73:c.9569-1G>A;NM_198129:exon74:c.9737-1G>A;NM_001127718:exon36:c.4742-1G>A;NM_000227:exon37:c.4910-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9737-1G>A;ENST00000399516:exon73:c.9569-1G>A;ENST00000269217:exon37:c.4910-1G>A;ENST00000587184:exon36:c.4742-1G>A)	.	.	0.999989125585301	0.944
18	21532953	G	C	18	23952989	y	y	splicing	LAMA3(NM_001127717:exon73:c.9569-1G>C;NM_198129:exon74:c.9737-1G>C;NM_001127718:exon36:c.4742-1G>C;NM_000227:exon37:c.4910-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9737-1G>C;ENST00000399516:exon73:c.9569-1G>C;ENST00000269217:exon37:c.4910-1G>C;ENST00000587184:exon36:c.4742-1G>C)	.	.	0.999989125585301	0.944
18	21532953	G	T	18	23952989	y	y	splicing	LAMA3(NM_001127717:exon73:c.9569-1G>T;NM_198129:exon74:c.9737-1G>T;NM_001127718:exon36:c.4742-1G>T;NM_000227:exon37:c.4910-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9737-1G>T;ENST00000399516:exon73:c.9569-1G>T;ENST00000269217:exon37:c.4910-1G>T;ENST00000587184:exon36:c.4742-1G>T)	.	.	0.999989125585301	0.944
18	21532954	T	A	18	23952990	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.T9737A:p.V3246D;LAMA3:NM_001127718:exon36:c.T4742A:p.V1581D;LAMA3:NM_001127717:exon73:c.T9569A:p.V3190D;LAMA3:NM_000227:exon37:c.T4910A:p.V1637D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.T4910A:p.V1637D;ENSG00000053747:ENST00000587184:exon36:c.T4742A:p.V1581D;ENSG00000053747:ENST00000399516:exon73:c.T9569A:p.V3190D;ENSG00000053747:ENST00000313654:exon74:c.T9737A:p.V3246D;	0.720529420118802	0.698
18	21532954	T	C	18	23952990	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.T9737C:p.V3246A;LAMA3:NM_001127718:exon36:c.T4742C:p.V1581A;LAMA3:NM_001127717:exon73:c.T9569C:p.V3190A;LAMA3:NM_000227:exon37:c.T4910C:p.V1637A;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.T4910C:p.V1637A;ENSG00000053747:ENST00000587184:exon36:c.T4742C:p.V1581A;ENSG00000053747:ENST00000399516:exon73:c.T9569C:p.V3190A;ENSG00000053747:ENST00000313654:exon74:c.T9737C:p.V3246A;	0.978204185368917	0.782
18	21532954	T	G	18	23952990	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.T9737G:p.V3246G;LAMA3:NM_001127718:exon36:c.T4742G:p.V1581G;LAMA3:NM_001127717:exon73:c.T9569G:p.V3190G;LAMA3:NM_000227:exon37:c.T4910G:p.V1637G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.T4910G:p.V1637G;ENSG00000053747:ENST00000587184:exon36:c.T4742G:p.V1581G;ENSG00000053747:ENST00000399516:exon73:c.T9569G:p.V3190G;ENSG00000053747:ENST00000313654:exon74:c.T9737G:p.V3246G;	0.802857726872549	0.632
18	21532955	C	A	18	23952991	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon74:c.C9738A:p.V3246V;LAMA3:NM_001127718:exon36:c.C4743A:p.V1581V;LAMA3:NM_001127717:exon73:c.C9570A:p.V3190V;LAMA3:NM_000227:exon37:c.C4911A:p.V1637V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.C4911A:p.V1637V;ENSG00000053747:ENST00000587184:exon36:c.C4743A:p.V1581V;ENSG00000053747:ENST00000399516:exon73:c.C9570A:p.V3190V;ENSG00000053747:ENST00000313654:exon74:c.C9738A:p.V3246V;	3.80332500987549E-4	0.03
18	21532955	C	G	18	23952991	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon74:c.C9738G:p.V3246V;LAMA3:NM_001127718:exon36:c.C4743G:p.V1581V;LAMA3:NM_001127717:exon73:c.C9570G:p.V3190V;LAMA3:NM_000227:exon37:c.C4911G:p.V1637V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.C4911G:p.V1637V;ENSG00000053747:ENST00000587184:exon36:c.C4743G:p.V1581V;ENSG00000053747:ENST00000399516:exon73:c.C9570G:p.V3190V;ENSG00000053747:ENST00000313654:exon74:c.C9738G:p.V3246V;	2.41908351882939E-4	0.08
18	21532955	C	T	18	23952991	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon74:c.C9738T:p.V3246V;LAMA3:NM_001127718:exon36:c.C4743T:p.V1581V;LAMA3:NM_001127717:exon73:c.C9570T:p.V3190V;LAMA3:NM_000227:exon37:c.C4911T:p.V1637V;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.C4911T:p.V1637V;ENSG00000053747:ENST00000587184:exon36:c.C4743T:p.V1581V;ENSG00000053747:ENST00000399516:exon73:c.C9570T:p.V3190V;ENSG00000053747:ENST00000313654:exon74:c.C9738T:p.V3246V;	1.72845789304497E-4	0.008
18	21533071	C	A	18	23953107	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.C9854A:p.P3285Q;LAMA3:NM_001127718:exon36:c.C4859A:p.P1620Q;LAMA3:NM_001127717:exon73:c.C9686A:p.P3229Q;LAMA3:NM_000227:exon37:c.C5027A:p.P1676Q;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.C5027A:p.P1676Q;ENSG00000053747:ENST00000587184:exon36:c.C4859A:p.P1620Q;ENSG00000053747:ENST00000399516:exon73:c.C9686A:p.P3229Q;ENSG00000053747:ENST00000313654:exon74:c.C9854A:p.P3285Q;	0.957736990535326	0.812
18	21533071	C	G	18	23953107	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.C9854G:p.P3285R;LAMA3:NM_001127718:exon36:c.C4859G:p.P1620R;LAMA3:NM_001127717:exon73:c.C9686G:p.P3229R;LAMA3:NM_000227:exon37:c.C5027G:p.P1676R;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.C5027G:p.P1676R;ENSG00000053747:ENST00000587184:exon36:c.C4859G:p.P1620R;ENSG00000053747:ENST00000399516:exon73:c.C9686G:p.P3229R;ENSG00000053747:ENST00000313654:exon74:c.C9854G:p.P3285R;	0.926539208504767	0.634
18	21533071	C	T	18	23953107	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.C9854T:p.P3285L;LAMA3:NM_001127718:exon36:c.C4859T:p.P1620L;LAMA3:NM_001127717:exon73:c.C9686T:p.P3229L;LAMA3:NM_000227:exon37:c.C5027T:p.P1676L;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.C5027T:p.P1676L;ENSG00000053747:ENST00000587184:exon36:c.C4859T:p.P1620L;ENSG00000053747:ENST00000399516:exon73:c.C9686T:p.P3229L;ENSG00000053747:ENST00000313654:exon74:c.C9854T:p.P3285L;	0.998405083339434	0.848
18	21533072	A	C	18	23953108	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon74:c.A9855C:p.P3285P;LAMA3:NM_001127718:exon36:c.A4860C:p.P1620P;LAMA3:NM_001127717:exon73:c.A9687C:p.P3229P;LAMA3:NM_000227:exon37:c.A5028C:p.P1676P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.A5028C:p.P1676P;ENSG00000053747:ENST00000587184:exon36:c.A4860C:p.P1620P;ENSG00000053747:ENST00000399516:exon73:c.A9687C:p.P3229P;ENSG00000053747:ENST00000313654:exon74:c.A9855C:p.P3285P;	0.948307607200379	0.8
18	21533072	A	G	18	23953108	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon74:c.A9855G:p.P3285P;LAMA3:NM_001127718:exon36:c.A4860G:p.P1620P;LAMA3:NM_001127717:exon73:c.A9687G:p.P3229P;LAMA3:NM_000227:exon37:c.A5028G:p.P1676P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.A5028G:p.P1676P;ENSG00000053747:ENST00000587184:exon36:c.A4860G:p.P1620P;ENSG00000053747:ENST00000399516:exon73:c.A9687G:p.P3229P;ENSG00000053747:ENST00000313654:exon74:c.A9855G:p.P3285P;	0.994202226545525	0.904
18	21533072	A	T	18	23953108	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon74:c.A9855T:p.P3285P;LAMA3:NM_001127718:exon36:c.A4860T:p.P1620P;LAMA3:NM_001127717:exon73:c.A9687T:p.P3229P;LAMA3:NM_000227:exon37:c.A5028T:p.P1676P;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.A5028T:p.P1676P;ENSG00000053747:ENST00000587184:exon36:c.A4860T:p.P1620P;ENSG00000053747:ENST00000399516:exon73:c.A9687T:p.P3229P;ENSG00000053747:ENST00000313654:exon74:c.A9855T:p.P3285P;	0.998824036920805	0.962
18	21533073	G	A	18	23953109	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.G9856A:p.A3286T;LAMA3:NM_001127718:exon36:c.G4861A:p.A1621T;LAMA3:NM_001127717:exon73:c.G9688A:p.A3230T;LAMA3:NM_000227:exon37:c.G5029A:p.A1677T;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.G5029A:p.A1677T;ENSG00000053747:ENST00000587184:exon36:c.G4861A:p.A1621T;ENSG00000053747:ENST00000399516:exon73:c.G9688A:p.A3230T;ENSG00000053747:ENST00000313654:exon74:c.G9856A:p.A3286T;	0.999969053403551	0.986
18	21533073	G	C	18	23953109	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.G9856C:p.A3286P;LAMA3:NM_001127718:exon36:c.G4861C:p.A1621P;LAMA3:NM_001127717:exon73:c.G9688C:p.A3230P;LAMA3:NM_000227:exon37:c.G5029C:p.A1677P;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.G5029C:p.A1677P;ENSG00000053747:ENST00000587184:exon36:c.G4861C:p.A1621P;ENSG00000053747:ENST00000399516:exon73:c.G9688C:p.A3230P;ENSG00000053747:ENST00000313654:exon74:c.G9856C:p.A3286P;	0.999987582713126	0.978
18	21533073	G	T	18	23953109	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon74:c.G9856T:p.A3286S;LAMA3:NM_001127718:exon36:c.G4861T:p.A1621S;LAMA3:NM_001127717:exon73:c.G9688T:p.A3230S;LAMA3:NM_000227:exon37:c.G5029T:p.A1677S;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon37:c.G5029T:p.A1677S;ENSG00000053747:ENST00000587184:exon36:c.G4861T:p.A1621S;ENSG00000053747:ENST00000399516:exon73:c.G9688T:p.A3230S;ENSG00000053747:ENST00000313654:exon74:c.G9856T:p.A3286S;	0.999981397025898	0.912
18	21533074	G	A	18	23953110	y	y	splicing	LAMA3(NM_001127717:exon73:c.9688+1G>A;NM_198129:exon74:c.9856+1G>A;NM_001127718:exon36:c.4861+1G>A;NM_000227:exon37:c.5029+1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9856+1G>A;ENST00000399516:exon73:c.9688+1G>A;ENST00000269217:exon37:c.5029+1G>A;ENST00000587184:exon36:c.4861+1G>A)	.	.	0.999990361384395	0.938
18	21533074	G	C	18	23953110	y	y	splicing	LAMA3(NM_001127717:exon73:c.9688+1G>C;NM_198129:exon74:c.9856+1G>C;NM_001127718:exon36:c.4861+1G>C;NM_000227:exon37:c.5029+1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9856+1G>C;ENST00000399516:exon73:c.9688+1G>C;ENST00000269217:exon37:c.5029+1G>C;ENST00000587184:exon36:c.4861+1G>C)	.	.	0.999990361384395	0.938
18	21533074	G	T	18	23953110	y	y	splicing	LAMA3(NM_001127717:exon73:c.9688+1G>T;NM_198129:exon74:c.9856+1G>T;NM_001127718:exon36:c.4861+1G>T;NM_000227:exon37:c.5029+1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9856+1G>T;ENST00000399516:exon73:c.9688+1G>T;ENST00000269217:exon37:c.5029+1G>T;ENST00000587184:exon36:c.4861+1G>T)	.	.	0.999990361384395	0.938
18	21533075	T	A	18	23953111	y	y	splicing	LAMA3(NM_001127717:exon73:c.9688+2T>A;NM_198129:exon74:c.9856+2T>A;NM_001127718:exon36:c.4861+2T>A;NM_000227:exon37:c.5029+2T>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9856+2T>A;ENST00000399516:exon73:c.9688+2T>A;ENST00000269217:exon37:c.5029+2T>A;ENST00000587184:exon36:c.4861+2T>A)	.	.	0.999988247793601	0.93
18	21533075	T	C	18	23953111	y	y	splicing	LAMA3(NM_001127717:exon73:c.9688+2T>C;NM_198129:exon74:c.9856+2T>C;NM_001127718:exon36:c.4861+2T>C;NM_000227:exon37:c.5029+2T>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9856+2T>C;ENST00000399516:exon73:c.9688+2T>C;ENST00000269217:exon37:c.5029+2T>C;ENST00000587184:exon36:c.4861+2T>C)	.	.	0.996046924575706	0.718
18	21533075	T	G	18	23953111	y	y	splicing	LAMA3(NM_001127717:exon73:c.9688+2T>G;NM_198129:exon74:c.9856+2T>G;NM_001127718:exon36:c.4861+2T>G;NM_000227:exon37:c.5029+2T>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon74:c.9856+2T>G;ENST00000399516:exon73:c.9688+2T>G;ENST00000269217:exon37:c.5029+2T>G;ENST00000587184:exon36:c.4861+2T>G)	.	.	0.999988247793601	0.93
18	21533076	A	C	18	23953112	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.998735340081968	0.942
18	21533076	A	G	18	23953112	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.709091949376873	0.768
18	21533076	A	T	18	23953112	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999923763912407	0.902
18	21533077	A	C	18	23953113	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99559903788455	0.908
18	21533077	A	G	18	23953113	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.997809119027658	0.906
18	21533077	A	T	18	23953113	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.99755693860146	0.89
18	21533078	C	A	18	23953114	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.57697392891068E-4	0.062
18	21533078	C	G	18	23953114	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.7747565072354E-5	0.034
18	21533078	C	T	18	23953114	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.38412873076575E-4	0.012
18	21533079	T	A	18	23953115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.09542093200235E-4	0.174
18	21533079	T	C	18	23953115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00269458369901864	0.23
18	21533079	T	G	18	23953115	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.88939307858163E-4	0.204
18	21533080	C	A	18	23953116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.12740007281415E-4	0.006
18	21533080	C	G	18	23953116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.81298282559459E-4	0.002
18	21533080	C	T	18	23953116	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.80771023146213E-4	0.002
18	21533081	T	A	18	23953117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	6.14656354099398E-5	0.004
18	21533081	T	C	18	23953117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.44053392659126E-4	0.0
18	21533081	T	G	18	23953117	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	4.25248505924395E-5	0.0
18	21534455	T	A	18	23954491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00208716896685915	0.09
18	21534455	T	C	18	23954491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.36819519814155E-4	0.004
18	21534455	T	G	18	23954491	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00775438596672813	0.088
18	21534456	T	A	18	23954492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0690637512334524	0.422
18	21534456	T	C	18	23954492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00601048890087826	0.146
18	21534456	T	G	18	23954492	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.188986632464654	0.438
18	21534457	T	A	18	23954493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00115500084091812	0.05
18	21534457	T	C	18	23954493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.2171373327127E-5	0.004
18	21534457	T	G	18	23954493	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.25745261273121E-4	0.046
18	21534458	C	A	18	23954494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00167508271347048	0.134
18	21534458	C	G	18	23954494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00138867073584906	0.11
18	21534458	C	T	18	23954494	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.48803128571805E-4	0.04
18	21534459	T	A	18	23954495	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00787763011378077	0.078
18	21534459	T	C	18	23954495	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	3.54564944376663E-4	0.01
18	21534459	T	G	18	23954495	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	9.70990239833544E-4	0.138
18	21534460	C	A	18	23954496	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00190787110191226	0.106
18	21534460	C	G	18	23954496	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00155617801560803	0.084
18	21534460	C	T	18	23954496	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.33890360340926E-4	0.022
18	21534461	T	A	18	23954497	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0170701693984194	0.224
18	21534461	T	C	18	23954497	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00169676220171556	0.09
18	21534461	T	G	18	23954497	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0216869016507938	0.234
18	21534462	T	A	18	23954498	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00719195781066743	0.18
18	21534462	T	C	18	23954498	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	7.76070024664471E-4	0.032
18	21534462	T	G	18	23954498	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.0204983217095608	0.276
18	21534463	T	A	18	23954499	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.18442783638343E-5	0.0
18	21534463	T	C	18	23954499	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	1.75469013052235E-5	0.0
18	21534463	T	G	18	23954499	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	2.11354143189047E-5	0.002
18	21534464	C	A	18	23954500	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.207078189536306	0.468
18	21534464	C	G	18	23954500	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.999766597481631	0.956
18	21534464	C	T	18	23954500	y	y	intronic	LAMA3	.	.	intronic	ENSG00000053747	.	.	0.00221783192679591	0.03
18	21534465	A	C	18	23954501	y	y	splicing	LAMA3(NM_001127717:exon74:c.9689-2A>C;NM_198129:exon75:c.9857-2A>C;NM_001127718:exon37:c.4862-2A>C;NM_000227:exon38:c.5030-2A>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon75:c.9857-2A>C;ENST00000399516:exon74:c.9689-2A>C;ENST00000269217:exon38:c.5030-2A>C;ENST00000587184:exon37:c.4862-2A>C;ENST00000588004:exon4:c.258-2A>C)	.	.	0.99994568797423	0.93
18	21534465	A	G	18	23954501	y	y	splicing	LAMA3(NM_001127717:exon74:c.9689-2A>G;NM_198129:exon75:c.9857-2A>G;NM_001127718:exon37:c.4862-2A>G;NM_000227:exon38:c.5030-2A>G)	.	.	splicing	ENSG00000053747(ENST00000313654:exon75:c.9857-2A>G;ENST00000399516:exon74:c.9689-2A>G;ENST00000269217:exon38:c.5030-2A>G;ENST00000587184:exon37:c.4862-2A>G;ENST00000588004:exon4:c.258-2A>G)	.	.	0.99994568797423	0.922
18	21534465	A	T	18	23954501	y	y	splicing	LAMA3(NM_001127717:exon74:c.9689-2A>T;NM_198129:exon75:c.9857-2A>T;NM_001127718:exon37:c.4862-2A>T;NM_000227:exon38:c.5030-2A>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon75:c.9857-2A>T;ENST00000399516:exon74:c.9689-2A>T;ENST00000269217:exon38:c.5030-2A>T;ENST00000587184:exon37:c.4862-2A>T;ENST00000588004:exon4:c.258-2A>T)	.	.	0.999978952611685	0.928
18	21534466	G	A	18	23954502	y	y	splicing	LAMA3(NM_001127717:exon74:c.9689-1G>A;NM_198129:exon75:c.9857-1G>A;NM_001127718:exon37:c.4862-1G>A;NM_000227:exon38:c.5030-1G>A)	.	.	splicing	ENSG00000053747(ENST00000313654:exon75:c.9857-1G>A;ENST00000399516:exon74:c.9689-1G>A;ENST00000269217:exon38:c.5030-1G>A;ENST00000587184:exon37:c.4862-1G>A;ENST00000588004:exon4:c.258-1G>A)	.	.	0.999982737877662	0.938
18	21534466	G	C	18	23954502	y	y	splicing	LAMA3(NM_001127717:exon74:c.9689-1G>C;NM_198129:exon75:c.9857-1G>C;NM_001127718:exon37:c.4862-1G>C;NM_000227:exon38:c.5030-1G>C)	.	.	splicing	ENSG00000053747(ENST00000313654:exon75:c.9857-1G>C;ENST00000399516:exon74:c.9689-1G>C;ENST00000269217:exon38:c.5030-1G>C;ENST00000587184:exon37:c.4862-1G>C;ENST00000588004:exon4:c.258-1G>C)	.	.	0.99995545544995	0.932
18	21534466	G	T	18	23954502	y	y	splicing	LAMA3(NM_001127717:exon74:c.9689-1G>T;NM_198129:exon75:c.9857-1G>T;NM_001127718:exon37:c.4862-1G>T;NM_000227:exon38:c.5030-1G>T)	.	.	splicing	ENSG00000053747(ENST00000313654:exon75:c.9857-1G>T;ENST00000399516:exon74:c.9689-1G>T;ENST00000269217:exon38:c.5030-1G>T;ENST00000587184:exon37:c.4862-1G>T;ENST00000588004:exon4:c.258-1G>T)	.	.	0.999982737877662	0.932
18	21534467	C	A	18	23954503	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon75:c.C9857A:p.A3286D;LAMA3:NM_001127718:exon37:c.C4862A:p.A1621D;LAMA3:NM_001127717:exon74:c.C9689A:p.A3230D;LAMA3:NM_000227:exon38:c.C5030A:p.A1677D;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon38:c.C5030A:p.A1677D;ENSG00000053747:ENST00000587184:exon37:c.C4862A:p.A1621D;ENSG00000053747:ENST00000399516:exon74:c.C9689A:p.A3230D;ENSG00000053747:ENST00000313654:exon75:c.C9857A:p.A3286D;	6.56089236102536E-5	0.002
18	21534467	C	G	18	23954503	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon75:c.C9857G:p.A3286G;LAMA3:NM_001127718:exon37:c.C4862G:p.A1621G;LAMA3:NM_001127717:exon74:c.C9689G:p.A3230G;LAMA3:NM_000227:exon38:c.C5030G:p.A1677G;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon38:c.C5030G:p.A1677G;ENSG00000053747:ENST00000587184:exon37:c.C4862G:p.A1621G;ENSG00000053747:ENST00000399516:exon74:c.C9689G:p.A3230G;ENSG00000053747:ENST00000313654:exon75:c.C9857G:p.A3286G;	5.69075721201432E-4	0.23
18	21534467	C	T	18	23954503	y	y	exonic	LAMA3	nonsynonymous SNV	LAMA3:NM_198129:exon75:c.C9857T:p.A3286V;LAMA3:NM_001127718:exon37:c.C4862T:p.A1621V;LAMA3:NM_001127717:exon74:c.C9689T:p.A3230V;LAMA3:NM_000227:exon38:c.C5030T:p.A1677V;	exonic	ENSG00000053747	nonsynonymous SNV	ENSG00000053747:ENST00000269217:exon38:c.C5030T:p.A1677V;ENSG00000053747:ENST00000587184:exon37:c.C4862T:p.A1621V;ENSG00000053747:ENST00000399516:exon74:c.C9689T:p.A3230V;ENSG00000053747:ENST00000313654:exon75:c.C9857T:p.A3286V;	4.3016487356061E-4	0.112
18	21534468	C	A	18	23954504	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon75:c.C9858A:p.A3286A;LAMA3:NM_001127718:exon37:c.C4863A:p.A1621A;LAMA3:NM_001127717:exon74:c.C9690A:p.A3230A;LAMA3:NM_000227:exon38:c.C5031A:p.A1677A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon38:c.C5031A:p.A1677A;ENSG00000053747:ENST00000587184:exon37:c.C4863A:p.A1621A;ENSG00000053747:ENST00000399516:exon74:c.C9690A:p.A3230A;ENSG00000053747:ENST00000313654:exon75:c.C9858A:p.A3286A;	1.48267408477569E-4	0.004
18	21534468	C	G	18	23954504	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon75:c.C9858G:p.A3286A;LAMA3:NM_001127718:exon37:c.C4863G:p.A1621A;LAMA3:NM_001127717:exon74:c.C9690G:p.A3230A;LAMA3:NM_000227:exon38:c.C5031G:p.A1677A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon38:c.C5031G:p.A1677A;ENSG00000053747:ENST00000587184:exon37:c.C4863G:p.A1621A;ENSG00000053747:ENST00000399516:exon74:c.C9690G:p.A3230A;ENSG00000053747:ENST00000313654:exon75:c.C9858G:p.A3286A;	9.55148906743258E-5	0.018
18	21534468	C	T	18	23954504	y	y	exonic	LAMA3	synonymous SNV	LAMA3:NM_198129:exon75:c.C9858T:p.A3286A;LAMA3:NM_001127718:exon37:c.C4863T:p.A1621A;LAMA3:NM_001127717:exon74:c.C9690T:p.A3230A;LAMA3:NM_000227:exon38:c.C5031T:p.A1677A;	exonic	ENSG00000053747	synonymous SNV	ENSG00000053747:ENST00000269217:exon38:c.C5031T:p.A1677A;ENSG00000053747:ENST00000587184:exon37:c.C4863T:p.A1621A;ENSG00000053747:ENST00000399516:exon74:c.C9690T:p.A3230A;ENSG00000053747:ENST00000313654:exon75:c.C9858T:p.A3286A;	1.43698607137749E-4	0.004
18	21573000	G	A	18	23993036	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	1.60276945191471E-4	0.028
18	21573000	G	C	18	23993036	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	9.65751777563252E-5	0.028
18	21573000	G	T	18	23993036	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	1.38800788277716E-4	0.028
18	21573001	T	A	18	23993037	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	2.93008933363103E-5	0.0
18	21573001	T	C	18	23993037	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	2.93008933363103E-5	0.0
18	21573001	T	G	18	23993037	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	2.93008933363103E-5	0.0
18	21573002	G	A	18	23993038	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	0.00337291445926674	0.036
18	21573002	G	C	18	23993038	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	0.00227564853658548	0.032
18	21573002	G	T	18	23993038	y	y	UTR5	TTC39C	.	.	UTR5	ENSG00000168234	.	.	0.00291418627707305	0.038
18	21573003	G	A	18	23993039	y	y	splicing	TTC39C	.	.	splicing	ENSG00000168234	.	.	4.6857887130806E-5	0.032
18	21573003	G	C	18	23993039	y	y	splicing	TTC39C	.	.	splicing	ENSG00000168234	.	.	4.6857887130806E-5	0.032
18	21573003	G	T	18	23993039	y	y	splicing	TTC39C	.	.	splicing	ENSG00000168234	.	.	4.6857887130806E-5	0.032
18	21573004	T	A	18	23993040	y	y	splicing	TTC39C	.	.	splicing	ENSG00000168234	.	.	8.64905445396362E-5	0.0
18	21573004	T	C	18	23993040	y	y	splicing	TTC39C	.	.	splicing	ENSG00000168234	.	.	4.7586829694842E-5	0.0
18	21573004	T	G	18	23993040	y	y	splicing	TTC39C	.	.	splicing	ENSG00000168234	.	.	4.7586829694842E-5	0.004
18	21573005	A	C	18	23993041	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.24975915077222E-5	0.0
18	21573005	A	G	18	23993041	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.24975915077222E-5	0.0
18	21573005	A	T	18	23993041	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.24975915077222E-5	0.0
18	21573006	A	C	18	23993042	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.49558424125564E-4	0.1
18	21573006	A	G	18	23993042	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.49558424125564E-4	0.1
18	21573006	A	T	18	23993042	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.72026604098192E-4	0.1
18	21573007	G	A	18	23993043	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.80283194928756E-5	0.0
18	21573007	G	C	18	23993043	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.80283194928756E-5	0.0
18	21573007	G	T	18	23993043	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.80283194928756E-5	0.0
18	21573008	T	A	18	23993044	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.33815804894828E-5	0.0
18	21573008	T	C	18	23993044	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.33815804894828E-5	0.0
18	21573008	T	G	18	23993044	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.33815804894828E-5	0.0
18	21573009	G	A	18	23993045	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.23670744562471E-4	0.002
18	21573009	G	C	18	23993045	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.23670744562471E-4	0.002
18	21573009	G	T	18	23993045	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.23670744562471E-4	0.002
18	21573010	G	A	18	23993046	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.65143266892667E-4	0.008
18	21573010	G	C	18	23993046	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.23670744562471E-4	0.008
18	21573010	G	T	18	23993046	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.23670744562471E-4	0.008
18	21595000	C	A	18	24015036	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon1:c.C165A:p.Y55X;TTC39C:NM_001243425:exon1:c.C165A:p.Y55X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000584250:exon1:c.C165A:p.Y55X;ENSG00000168234:ENST00000317571:exon1:c.C165A:p.Y55X;	0.455177555623343	0.674
18	21595000	C	G	18	24015036	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon1:c.C165G:p.Y55X;TTC39C:NM_001243425:exon1:c.C165G:p.Y55X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000584250:exon1:c.C165G:p.Y55X;ENSG00000168234:ENST00000317571:exon1:c.C165G:p.Y55X;	0.733356209695808	0.596
18	21595000	C	T	18	24015036	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon1:c.C165T:p.Y55Y;TTC39C:NM_001243425:exon1:c.C165T:p.Y55Y;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000584250:exon1:c.C165T:p.Y55Y;ENSG00000168234:ENST00000317571:exon1:c.C165T:p.Y55Y;	0.997290482606267	0.92
18	21595001	A	C	18	24015037	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon1:c.A166C:p.R56R;TTC39C:NM_001243425:exon1:c.A166C:p.R56R;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000584250:exon1:c.A166C:p.R56R;ENSG00000168234:ENST00000317571:exon1:c.A166C:p.R56R;	0.996146829969622	0.952
18	21595001	A	G	18	24015037	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon1:c.A166G:p.R56G;TTC39C:NM_001243425:exon1:c.A166G:p.R56G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000584250:exon1:c.A166G:p.R56G;ENSG00000168234:ENST00000317571:exon1:c.A166G:p.R56G;	0.998395185792495	0.96
18	21595001	A	T	18	24015037	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon1:c.A166T:p.R56X;TTC39C:NM_001243425:exon1:c.A166T:p.R56X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000584250:exon1:c.A166T:p.R56X;ENSG00000168234:ENST00000317571:exon1:c.A166T:p.R56X;	0.999931670796067	0.912
18	21595002	G	A	18	24015038	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon1:c.G167A:p.R56K;TTC39C:NM_001243425:exon1:c.G167A:p.R56K;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000584250:exon1:c.G167A:p.R56K;ENSG00000168234:ENST00000317571:exon1:c.G167A:p.R56K;	0.999998283588452	1.0
18	21595002	G	C	18	24015038	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon1:c.G167C:p.R56T;TTC39C:NM_001243425:exon1:c.G167C:p.R56T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000584250:exon1:c.G167C:p.R56T;ENSG00000168234:ENST00000317571:exon1:c.G167C:p.R56T;	0.999991803958322	0.996
18	21595002	G	T	18	24015038	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon1:c.G167T:p.R56I;TTC39C:NM_001243425:exon1:c.G167T:p.R56I;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000584250:exon1:c.G167T:p.R56I;ENSG00000168234:ENST00000317571:exon1:c.G167T:p.R56I;	0.999980956622229	1.0
18	21595003	G	A	18	24015039	y	y	splicing	TTC39C(NM_001135993:exon1:c.167+1G>A;NM_001243425:exon1:c.167+1G>A)	.	.	splicing	ENSG00000168234(ENST00000584250:exon1:c.167+1G>A;ENST00000317571:exon1:c.167+1G>A)	.	.	0.999991016762892	0.944
18	21595003	G	C	18	24015039	y	y	splicing	TTC39C(NM_001135993:exon1:c.167+1G>C;NM_001243425:exon1:c.167+1G>C)	.	.	splicing	ENSG00000168234(ENST00000584250:exon1:c.167+1G>C;ENST00000317571:exon1:c.167+1G>C)	.	.	0.999991016762892	0.944
18	21595003	G	T	18	24015039	y	y	splicing	TTC39C(NM_001135993:exon1:c.167+1G>T;NM_001243425:exon1:c.167+1G>T)	.	.	splicing	ENSG00000168234(ENST00000584250:exon1:c.167+1G>T;ENST00000317571:exon1:c.167+1G>T)	.	.	0.999991016762892	0.944
18	21595004	T	A	18	24015040	y	y	splicing	TTC39C(NM_001135993:exon1:c.167+2T>A;NM_001243425:exon1:c.167+2T>A)	.	.	splicing	ENSG00000168234(ENST00000584250:exon1:c.167+2T>A;ENST00000317571:exon1:c.167+2T>A)	.	.	0.999981530324659	0.878
18	21595004	T	C	18	24015040	y	y	splicing	TTC39C(NM_001135993:exon1:c.167+2T>C;NM_001243425:exon1:c.167+2T>C)	.	.	splicing	ENSG00000168234(ENST00000584250:exon1:c.167+2T>C;ENST00000317571:exon1:c.167+2T>C)	.	.	0.999960367495456	0.886
18	21595004	T	G	18	24015040	y	y	splicing	TTC39C(NM_001135993:exon1:c.167+2T>G;NM_001243425:exon1:c.167+2T>G)	.	.	splicing	ENSG00000168234(ENST00000584250:exon1:c.167+2T>G;ENST00000317571:exon1:c.167+2T>G)	.	.	0.999981530324659	0.88
18	21595005	G	A	18	24015041	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	3.37423999837545E-4	0.058
18	21595005	G	C	18	24015041	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	0.996278437076116	0.79
18	21595005	G	T	18	24015041	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	0.998970203926802	0.686
18	21595006	A	C	18	24015042	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	0.879241610140912	0.618
18	21595006	A	G	18	24015042	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	0.99716062690413	0.94
18	21595006	A	T	18	24015042	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	0.999113801469254	0.94
18	21595007	C	A	18	24015043	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	3.39784589236828E-4	0.058
18	21595007	C	G	18	24015043	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	5.09437717321344E-4	0.044
18	21595007	C	T	18	24015043	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	0.0884783470390475	0.122
18	21595008	C	A	18	24015044	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	7.17996139066605E-5	0.018
18	21595008	C	G	18	24015044	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	1.93172184124147E-5	0.004
18	21595008	C	T	18	24015044	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	1.47824103698902E-5	0.0
18	21595009	C	A	18	24015045	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	1.12723381073498E-4	0.008
18	21595009	C	G	18	24015045	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	6.00846912452007E-4	0.09
18	21595009	C	T	18	24015045	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	9.58460957603851E-4	0.31
18	21595010	A	C	18	24015046	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	1.99169751927182E-4	0.014
18	21595010	A	G	18	24015046	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	7.12549792797431E-5	0.0
18	21595010	A	T	18	24015046	y	y	ncRNA_intronic	RP11-403A21.2	.	.	ncRNA_intronic	ENSG00000264745	.	.	1.40824252161483E-4	0.0
18	21596702	T	A	18	24016738	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000577185:exon1:c.T66A:p.C22X;	6.08540935467557E-5	0.0
18	21596702	T	C	18	24016738	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000577185:exon1:c.T66C:p.C22C;	1.91991176785681E-5	0.0
18	21596702	T	G	18	24016738	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000577185:exon1:c.T66G:p.C22W;	1.08159923002108E-5	0.0
18	21596703	G	A	18	24016739	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000577185:exon1:c.G67A:p.G23R;	6.35428655471156E-5	0.006
18	21596703	G	C	18	24016739	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000577185:exon1:c.G67C:p.G23R;	6.35428655471156E-5	0.004
18	21596703	G	T	18	24016739	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000577185:exon1:c.G67T:p.G23X;	8.36232061203922E-5	0.088
18	21596704	G	A	18	24016740	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000577185:exon1:c.G68A:p.G23E;	4.68952365742707E-5	0.002
18	21596704	G	C	18	24016740	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000577185:exon1:c.G68C:p.G23A;	4.68952365742707E-5	0.002
18	21596704	G	T	18	24016740	n	y	intronic	TTC39C	.	.	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000577185:exon1:c.G68T:p.G23V;	4.68952365742707E-5	0.004
18	21596705	G	A	18	24016741	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234(ENST00000577185:exon1:c.68+1G>A)	.	.	4.7749166663215E-5	0.016
18	21596705	G	C	18	24016741	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234(ENST00000577185:exon1:c.68+1G>C)	.	.	4.7749166663215E-5	0.0
18	21596705	G	T	18	24016741	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234(ENST00000577185:exon1:c.68+1G>T)	.	.	4.7749166663215E-5	0.002
18	21596706	T	A	18	24016742	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234(ENST00000577185:exon1:c.68+2T>A)	.	.	3.67272766448078E-5	0.0
18	21596706	T	C	18	24016742	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234(ENST00000577185:exon1:c.68+2T>C)	.	.	3.67272766448078E-5	0.0
18	21596706	T	G	18	24016742	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234(ENST00000577185:exon1:c.68+2T>G)	.	.	3.67272766448078E-5	0.0
18	21596707	G	A	18	24016743	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.71037690926497E-5	0.004
18	21596707	G	C	18	24016743	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.71037690926497E-5	0.0
18	21596707	G	T	18	24016743	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.71037690926497E-5	0.0
18	21596708	A	C	18	24016744	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.552751562108E-5	0.004
18	21596708	A	G	18	24016744	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.552751562108E-5	0.004
18	21596708	A	T	18	24016744	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.552751562108E-5	0.006
18	21596709	G	A	18	24016745	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.04701645548368E-5	0.13
18	21596709	G	C	18	24016745	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.04701645548368E-5	0.018
18	21596709	G	T	18	24016745	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.04701645548368E-5	0.02
18	21596710	T	A	18	24016746	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.27663100932972E-5	0.0
18	21596710	T	C	18	24016746	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.80274866394675E-5	0.0
18	21596710	T	G	18	24016746	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.80274866394675E-5	0.0
18	21596711	G	A	18	24016747	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.68952365742707E-5	0.004
18	21596711	G	C	18	24016747	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.68952365742707E-5	0.002
18	21596711	G	T	18	24016747	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.68952365742707E-5	0.006
18	21596712	C	A	18	24016748	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.07620641825897E-5	0.0
18	21596712	C	G	18	24016748	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.07620641825897E-5	0.0
18	21596712	C	T	18	24016748	n	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.31929338280547E-5	0.0
18	21599812	G	A	18	24019848	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.49778138453998E-5	0.0
18	21599812	G	C	18	24019848	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.49778138453998E-5	0.0
18	21599812	G	T	18	24019848	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.49778138453998E-5	0.0
18	21599813	G	A	18	24019849	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.4569103353161E-5	0.0
18	21599813	G	C	18	24019849	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.8840742393182E-5	0.0
18	21599813	G	T	18	24019849	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.8840742393182E-5	0.0
18	21599814	C	A	18	24019850	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.99988029025968E-5	0.0
18	21599814	C	G	18	24019850	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.99988029025968E-5	0.0
18	21599814	C	T	18	24019850	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.95171407251214E-5	0.0
18	21599815	C	A	18	24019851	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.14785528412137E-4	0.04
18	21599815	C	G	18	24019851	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.14785528412137E-4	0.04
18	21599815	C	T	18	24019851	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.75212986025387E-4	0.038
18	21599816	T	A	18	24019852	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.9469183429777E-5	0.0
18	21599816	T	C	18	24019852	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.65778582306901E-5	0.0
18	21599816	T	G	18	24019852	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.65778582306901E-5	0.0
18	21599817	T	A	18	24019853	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.25896182624293E-5	0.004
18	21599817	T	C	18	24019853	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.48306501328221E-5	0.004
18	21599817	T	G	18	24019853	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.48306501328221E-5	0.004
18	21599818	T	A	18	24019854	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.821824429032E-4	0.0
18	21599818	T	C	18	24019854	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.55787372000163E-4	0.0
18	21599818	T	G	18	24019854	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.55787372000163E-4	0.0
18	21599819	T	A	18	24019855	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.455930068921E-5	0.002
18	21599819	T	C	18	24019855	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.455930068921E-5	0.002
18	21599819	T	G	18	24019855	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.455930068921E-5	0.002
18	21599820	A	C	18	24019856	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.52086759380612E-5	0.014
18	21599820	A	G	18	24019856	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.52086759380612E-5	0.01
18	21599820	A	T	18	24019856	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.52086759380612E-5	0.01
18	21599821	C	A	18	24019857	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.70081261255395E-5	0.0
18	21599821	C	G	18	24019857	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.70081261255395E-5	0.0
18	21599821	C	T	18	24019857	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.70081261255395E-5	0.0
18	21599822	A	C	18	24019858	y	y	splicing	TTC39C(NM_001243425:exon2:c.168-2A>C)	.	.	splicing	ENSG00000168234(ENST00000584250:exon2:c.168-2A>C;ENST00000577185:exon2:c.69-2A>C)	.	.	0.00371653993790341	0.02
18	21599822	A	G	18	24019858	y	y	splicing	TTC39C(NM_001243425:exon2:c.168-2A>G)	.	.	splicing	ENSG00000168234(ENST00000584250:exon2:c.168-2A>G;ENST00000577185:exon2:c.69-2A>G)	.	.	0.00371653993790341	0.018
18	21599822	A	T	18	24019858	y	y	splicing	TTC39C(NM_001243425:exon2:c.168-2A>T)	.	.	splicing	ENSG00000168234(ENST00000584250:exon2:c.168-2A>T;ENST00000577185:exon2:c.69-2A>T)	.	.	0.00378904365268926	0.018
18	21599823	G	A	18	24019859	y	y	splicing	TTC39C(NM_001243425:exon2:c.168-1G>A)	.	.	splicing	ENSG00000168234(ENST00000584250:exon2:c.168-1G>A;ENST00000577185:exon2:c.69-1G>A)	.	.	9.15380256934019E-5	0.0
18	21599823	G	C	18	24019859	y	y	splicing	TTC39C(NM_001243425:exon2:c.168-1G>C)	.	.	splicing	ENSG00000168234(ENST00000584250:exon2:c.168-1G>C;ENST00000577185:exon2:c.69-1G>C)	.	.	5.03640525457558E-5	0.0
18	21599823	G	T	18	24019859	y	y	splicing	TTC39C(NM_001243425:exon2:c.168-1G>T)	.	.	splicing	ENSG00000168234(ENST00000584250:exon2:c.168-1G>T;ENST00000577185:exon2:c.69-1G>T)	.	.	9.15380256934019E-5	0.0
18	21599824	A	C	18	24019860	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001243425:exon2:c.A168C:p.R56S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000584250:exon2:c.A168C:p.R56S;	1.73401366462724E-4	0.002
18	21599824	A	G	18	24019860	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001243425:exon2:c.A168G:p.R56R;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000577185:exon2:c.A69G:p.G23G;ENSG00000168234:ENST00000584250:exon2:c.A168G:p.R56R;	3.9469183429777E-5	0.0
18	21599824	A	T	18	24019860	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001243425:exon2:c.A168T:p.R56S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000584250:exon2:c.A168T:p.R56S;	2.33950268484782E-4	0.004
18	21599825	A	C	18	24019861	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001243425:exon2:c.A169C:p.K57Q;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000577185:exon2:c.A70C:p.K24Q;ENSG00000168234:ENST00000584250:exon2:c.A169C:p.K57Q;	9.59839159160091E-5	0.0
18	21599825	A	G	18	24019861	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001243425:exon2:c.A169G:p.K57E;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000577185:exon2:c.A70G:p.K24E;ENSG00000168234:ENST00000584250:exon2:c.A169G:p.K57E;	4.37574485200314E-5	0.0
18	21599825	A	T	18	24019861	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001243425:exon2:c.A169T:p.K57X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000577185:exon2:c.A70T:p.K24X;ENSG00000168234:ENST00000584250:exon2:c.A169T:p.K57X;	4.4437821261067E-4	0.236
18	21644092	T	A	18	24064128	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0114747781232077	0.264
18	21644092	T	C	18	24064128	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.94599332652842E-5	0.004
18	21644092	T	G	18	24064128	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00924226015194178	0.298
18	21644093	T	A	18	24064129	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999608007862922	0.966
18	21644093	T	C	18	24064129	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.974517538165908	0.502
18	21644093	T	G	18	24064129	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999492656447595	0.86
18	21644094	T	A	18	24064130	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.924200298604798	0.61
18	21644094	T	C	18	24064130	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00111706493224634	0.076
18	21644094	T	G	18	24064130	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.913792054653258	0.566
18	21644095	T	A	18	24064131	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.274404784319859	0.33
18	21644095	T	C	18	24064131	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.69777240529356E-5	0.104
18	21644095	T	G	18	24064131	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.349659100597116	0.322
18	21644096	T	A	18	24064132	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.02661887631659	0.228
18	21644096	T	C	18	24064132	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.72544637502724E-4	0.006
18	21644096	T	G	18	24064132	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00524396953470144	0.162
18	21644097	T	A	18	24064133	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.998071604639289	0.866
18	21644097	T	C	18	24064133	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.439634010941988	0.56
18	21644097	T	G	18	24064133	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.995014065914541	0.808
18	21644098	T	A	18	24064134	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.95387963504177	0.638
18	21644098	T	C	18	24064134	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0253903825418838	0.134
18	21644098	T	G	18	24064134	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.95677325336302	0.72
18	21644099	A	C	18	24064135	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.8095055264224E-5	0.006
18	21644099	A	G	18	24064135	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.90632364164647E-4	0.028
18	21644099	A	T	18	24064135	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.62116383682193E-4	0.028
18	21644100	A	C	18	24064136	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00468575249225915	0.086
18	21644100	A	G	18	24064136	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.990331597706155	0.674
18	21644100	A	T	18	24064136	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0349541868018279	0.232
18	21644101	C	A	18	24064137	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99952357318776	0.93
18	21644101	C	G	18	24064137	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999726088862195	0.956
18	21644101	C	T	18	24064137	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.29188441091891	0.194
18	21644102	A	C	18	24064138	y	y	splicing	TTC39C(NM_001135993:exon2:c.168-2A>C)	.	.	splicing	ENSG00000168234(ENST00000317571:exon2:c.168-2A>C)	.	.	0.999988247793601	0.926
18	21644102	A	G	18	24064138	y	y	splicing	TTC39C(NM_001135993:exon2:c.168-2A>G)	.	.	splicing	ENSG00000168234(ENST00000317571:exon2:c.168-2A>G)	.	.	0.999988247793601	0.926
18	21644102	A	T	18	24064138	y	y	splicing	TTC39C(NM_001135993:exon2:c.168-2A>T)	.	.	splicing	ENSG00000168234(ENST00000317571:exon2:c.168-2A>T)	.	.	0.999988247793601	0.926
18	21644103	G	A	18	24064139	y	y	splicing	TTC39C(NM_001135993:exon2:c.168-1G>A)	.	.	splicing	ENSG00000168234(ENST00000317571:exon2:c.168-1G>A)	.	.	0.999985532734767	0.936
18	21644103	G	C	18	24064139	y	y	splicing	TTC39C(NM_001135993:exon2:c.168-1G>C)	.	.	splicing	ENSG00000168234(ENST00000317571:exon2:c.168-1G>C)	.	.	0.999985532734767	0.936
18	21644103	G	T	18	24064139	y	y	splicing	TTC39C(NM_001135993:exon2:c.168-1G>T)	.	.	splicing	ENSG00000168234(ENST00000317571:exon2:c.168-1G>T)	.	.	0.999985532734767	0.936
18	21644104	A	C	18	24064140	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.A168C:p.R56S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000317571:exon2:c.A168C:p.R56S;	0.734929378294759	0.538
18	21644104	A	G	18	24064140	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon2:c.A168G:p.R56R;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000317571:exon2:c.A168G:p.R56R;	0.0376796672980839	0.322
18	21644104	A	T	18	24064140	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.A168T:p.R56S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000317571:exon2:c.A168T:p.R56S;	0.640255524626931	0.548
18	21644105	A	C	18	24064141	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.A169C:p.N57H;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000317571:exon2:c.A169C:p.N57H;	0.880564786066222	0.892
18	21644105	A	G	18	24064141	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.A169G:p.N57D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000317571:exon2:c.A169G:p.N57D;	0.00310814975724314	0.03
18	21644105	A	T	18	24064141	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.A169T:p.N57Y;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000317571:exon2:c.A169T:p.N57Y;	0.832287156564168	0.78
18	21644150	T	A	18	24064186	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.T214A:p.L72M;TTC39C:NM_153211:exon2:c.T31A:p.L11M;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon2:c.T31A:p.L11M;ENSG00000168234:ENST00000317571:exon2:c.T214A:p.L72M;	2.70181769947903E-4	0.016
18	21644150	T	C	18	24064186	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon2:c.T214C:p.L72L;TTC39C:NM_153211:exon2:c.T31C:p.L11L;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon2:c.T31C:p.L11L;ENSG00000168234:ENST00000317571:exon2:c.T214C:p.L72L;	0.0126214661361124	0.174
18	21644150	T	G	18	24064186	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.T214G:p.L72V;TTC39C:NM_153211:exon2:c.T31G:p.L11V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon2:c.T31G:p.L11V;ENSG00000168234:ENST00000317571:exon2:c.T214G:p.L72V;	0.0325522439853086	0.248
18	21644151	T	A	18	24064187	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon2:c.T215A:p.L72X;TTC39C:NM_153211:exon2:c.T32A:p.L11X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000304621:exon2:c.T32A:p.L11X;ENSG00000168234:ENST00000317571:exon2:c.T215A:p.L72X;	0.702338154250191	0.694
18	21644151	T	C	18	24064187	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.T215C:p.L72S;TTC39C:NM_153211:exon2:c.T32C:p.L11S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon2:c.T32C:p.L11S;ENSG00000168234:ENST00000317571:exon2:c.T215C:p.L72S;	0.935296149730688	0.898
18	21644151	T	G	18	24064187	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.T215G:p.L72W;TTC39C:NM_153211:exon2:c.T32G:p.L11W;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon2:c.T32G:p.L11W;ENSG00000168234:ENST00000317571:exon2:c.T215G:p.L72W;	0.946381520066763	0.88
18	21644152	G	A	18	24064188	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon2:c.G216A:p.L72L;TTC39C:NM_153211:exon2:c.G33A:p.L11L;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon2:c.G33A:p.L11L;ENSG00000168234:ENST00000317571:exon2:c.G216A:p.L72L;	0.999628997886566	0.984
18	21644152	G	C	18	24064188	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.G216C:p.L72F;TTC39C:NM_153211:exon2:c.G33C:p.L11F;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon2:c.G33C:p.L11F;ENSG00000168234:ENST00000317571:exon2:c.G216C:p.L72F;	0.999963006479827	0.988
18	21644152	G	T	18	24064188	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon2:c.G216T:p.L72F;TTC39C:NM_153211:exon2:c.G33T:p.L11F;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon2:c.G33T:p.L11F;ENSG00000168234:ENST00000317571:exon2:c.G216T:p.L72F;	0.999644095699066	0.762
18	21644153	G	A	18	24064189	y	y	splicing	TTC39C(NM_153211:exon2:c.33+1G>A;NM_001135993:exon2:c.216+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon2:c.33+1G>A;ENST00000317571:exon2:c.216+1G>A)	.	.	0.999985532734767	0.936
18	21644153	G	C	18	24064189	y	y	splicing	TTC39C(NM_153211:exon2:c.33+1G>C;NM_001135993:exon2:c.216+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon2:c.33+1G>C;ENST00000317571:exon2:c.216+1G>C)	.	.	0.999985532734767	0.936
18	21644153	G	T	18	24064189	y	y	splicing	TTC39C(NM_153211:exon2:c.33+1G>T;NM_001135993:exon2:c.216+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon2:c.33+1G>T;ENST00000317571:exon2:c.216+1G>T)	.	.	0.999985532734767	0.936
18	21644154	T	A	18	24064190	y	y	splicing	TTC39C(NM_153211:exon2:c.33+2T>A;NM_001135993:exon2:c.216+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon2:c.33+2T>A;ENST00000317571:exon2:c.216+2T>A)	.	.	0.999988247793601	0.928
18	21644154	T	C	18	24064190	y	y	splicing	TTC39C(NM_153211:exon2:c.33+2T>C;NM_001135993:exon2:c.216+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon2:c.33+2T>C;ENST00000317571:exon2:c.216+2T>C)	.	.	0.99340600729494	0.652
18	21644154	T	G	18	24064190	y	y	splicing	TTC39C(NM_153211:exon2:c.33+2T>G;NM_001135993:exon2:c.216+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon2:c.33+2T>G;ENST00000317571:exon2:c.216+2T>G)	.	.	0.999988247793601	0.928
18	21644155	A	C	18	24064191	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.996809242518481	0.916
18	21644155	A	G	18	24064191	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.305416463681894	0.33
18	21644155	A	T	18	24064191	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99758508513755	0.916
18	21644156	A	C	18	24064192	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99924176847508	0.916
18	21644156	A	G	18	24064192	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999414653090292	0.912
18	21644156	A	T	18	24064192	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999569121815533	0.886
18	21644157	G	A	18	24064193	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.998721767373492	0.886
18	21644157	G	C	18	24064193	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999042823807	0.848
18	21644157	G	T	18	24064193	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99946527666958	0.81
18	21644158	T	A	18	24064194	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.98717394492584	0.72
18	21644158	T	C	18	24064194	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.988397809429494	0.686
18	21644158	T	G	18	24064194	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.973972839707646	0.606
18	21644159	T	A	18	24064195	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.95048232548605E-4	0.002
18	21644159	T	C	18	24064195	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.19141758233539E-4	0.0
18	21644159	T	G	18	24064195	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.26176568663442E-4	0.0
18	21644160	G	A	18	24064196	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.48231770457181E-4	0.006
18	21644160	G	C	18	24064196	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.48231770457181E-4	0.016
18	21644160	G	T	18	24064196	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.48231770457181E-4	0.002
18	21645964	C	A	18	24066000	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00116785020456385	0.146
18	21645964	C	G	18	24066000	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.69247683402183E-4	0.082
18	21645964	C	T	18	24066000	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.33845452121225E-5	0.02
18	21645965	T	A	18	24066001	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0221596686107942	0.43
18	21645965	T	C	18	24066001	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0853264625643492	0.272
18	21645965	T	G	18	24066001	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0778710069005306	0.448
18	21645966	T	A	18	24066002	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.7941540517609E-4	0.128
18	21645966	T	C	18	24066002	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.43441820168658E-4	0.064
18	21645966	T	G	18	24066002	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.53558093256975E-4	0.11
18	21645967	T	A	18	24066003	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00633301540808797	0.162
18	21645967	T	C	18	24066003	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00165401670940203	0.062
18	21645967	T	G	18	24066003	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00110144166622791	0.12
18	21645968	C	A	18	24066004	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.83144276295863E-4	0.118
18	21645968	C	G	18	24066004	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.64826627158666E-4	0.106
18	21645968	C	T	18	24066004	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.61419190049409E-5	0.06
18	21645969	T	A	18	24066005	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.81251541767852E-4	0.082
18	21645969	T	C	18	24066005	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.49635200789578E-5	0.022
18	21645969	T	G	18	24066005	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.95948744443918E-4	0.086
18	21645970	T	A	18	24066006	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999685828822924	0.962
18	21645970	T	C	18	24066006	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.33967260485099E-5	0.024
18	21645970	T	G	18	24066006	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.80747294911194E-4	0.14
18	21645971	G	A	18	24066007	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.503667592025603	0.624
18	21645971	G	C	18	24066007	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.52627316196873E-6	0.104
18	21645971	G	T	18	24066007	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.60396843053445E-5	0.1
18	21645972	G	A	18	24066008	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.53368207973557E-5	0.0
18	21645972	G	C	18	24066008	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.04551769839226E-6	0.0
18	21645972	G	T	18	24066008	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.1930492655505E-5	0.0
18	21645973	A	C	18	24066009	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.38306161332082E-4	0.02
18	21645973	A	G	18	24066009	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00629159436171561	0.224
18	21645973	A	T	18	24066009	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.08865935893256E-5	0.0
18	21645974	A	C	18	24066010	y	y	splicing	TTC39C(NM_153211:exon3:c.34-2A>C;NM_001135993:exon3:c.217-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.34-2A>C;ENST00000317571:exon3:c.217-2A>C)	.	.	0.999986741007567	0.94
18	21645974	A	G	18	24066010	y	y	splicing	TTC39C(NM_153211:exon3:c.34-2A>G;NM_001135993:exon3:c.217-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.34-2A>G;ENST00000317571:exon3:c.217-2A>G)	.	.	0.999981537975149	0.938
18	21645974	A	T	18	24066010	y	y	splicing	TTC39C(NM_153211:exon3:c.34-2A>T;NM_001135993:exon3:c.217-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.34-2A>T;ENST00000317571:exon3:c.217-2A>T)	.	.	0.999986741007567	0.94
18	21645975	G	A	18	24066011	y	y	splicing	TTC39C(NM_153211:exon3:c.34-1G>A;NM_001135993:exon3:c.217-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.34-1G>A;ENST00000317571:exon3:c.217-1G>A)	.	.	0.999983677848485	0.942
18	21645975	G	C	18	24066011	y	y	splicing	TTC39C(NM_153211:exon3:c.34-1G>C;NM_001135993:exon3:c.217-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.34-1G>C;ENST00000317571:exon3:c.217-1G>C)	.	.	0.999983677848485	0.942
18	21645975	G	T	18	24066011	y	y	splicing	TTC39C(NM_153211:exon3:c.34-1G>T;NM_001135993:exon3:c.217-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.34-1G>T;ENST00000317571:exon3:c.217-1G>T)	.	.	0.999983677848485	0.942
18	21645976	A	C	18	24066012	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A217C:p.N73H;TTC39C:NM_153211:exon3:c.A34C:p.N12H;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A34C:p.N12H;ENSG00000168234:ENST00000317571:exon3:c.A217C:p.N73H;	0.852883937547753	0.572
18	21645976	A	G	18	24066012	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A217G:p.N73D;TTC39C:NM_153211:exon3:c.A34G:p.N12D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A34G:p.N12D;ENSG00000168234:ENST00000317571:exon3:c.A217G:p.N73D;	0.651524902755381	0.642
18	21645976	A	T	18	24066012	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A217T:p.N73Y;TTC39C:NM_153211:exon3:c.A34T:p.N12Y;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A34T:p.N12Y;ENSG00000168234:ENST00000317571:exon3:c.A217T:p.N73Y;	0.813028771576925	0.546
18	21645977	A	C	18	24066013	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A218C:p.N73T;TTC39C:NM_153211:exon3:c.A35C:p.N12T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A35C:p.N12T;ENSG00000168234:ENST00000317571:exon3:c.A218C:p.N73T;	0.710010036241444	0.656
18	21645977	A	G	18	24066013	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A218G:p.N73S;TTC39C:NM_153211:exon3:c.A35G:p.N12S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A35G:p.N12S;ENSG00000168234:ENST00000317571:exon3:c.A218G:p.N73S;	0.873710561087465	0.736
18	21645977	A	T	18	24066013	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A218T:p.N73I;TTC39C:NM_153211:exon3:c.A35T:p.N12I;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A35T:p.N12I;ENSG00000168234:ENST00000317571:exon3:c.A218T:p.N73I;	0.815440873033433	0.81
18	21646102	A	C	18	24066138	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A343C:p.N115H;TTC39C:NM_153211:exon3:c.A160C:p.N54H;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A160C:p.N54H;ENSG00000168234:ENST00000317571:exon3:c.A343C:p.N115H;	0.559460347132795	0.616
18	21646102	A	G	18	24066138	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A343G:p.N115D;TTC39C:NM_153211:exon3:c.A160G:p.N54D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A160G:p.N54D;ENSG00000168234:ENST00000317571:exon3:c.A343G:p.N115D;	0.101657725800924	0.444
18	21646102	A	T	18	24066138	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A343T:p.N115Y;TTC39C:NM_153211:exon3:c.A160T:p.N54Y;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A160T:p.N54Y;ENSG00000168234:ENST00000317571:exon3:c.A343T:p.N115Y;	0.879240435728092	0.562
18	21646103	A	C	18	24066139	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A344C:p.N115T;TTC39C:NM_153211:exon3:c.A161C:p.N54T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A161C:p.N54T;ENSG00000168234:ENST00000317571:exon3:c.A344C:p.N115T;	0.258662661221765	0.51
18	21646103	A	G	18	24066139	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A344G:p.N115S;TTC39C:NM_153211:exon3:c.A161G:p.N54S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A161G:p.N54S;ENSG00000168234:ENST00000317571:exon3:c.A344G:p.N115S;	0.131901666290923	0.282
18	21646103	A	T	18	24066139	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.A344T:p.N115I;TTC39C:NM_153211:exon3:c.A161T:p.N54I;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.A161T:p.N54I;ENSG00000168234:ENST00000317571:exon3:c.A344T:p.N115I;	0.994272874937993	0.864
18	21646104	C	A	18	24066140	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.C345A:p.N115K;TTC39C:NM_153211:exon3:c.C162A:p.N54K;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.C162A:p.N54K;ENSG00000168234:ENST00000317571:exon3:c.C345A:p.N115K;	2.43278544101252E-5	0.004
18	21646104	C	G	18	24066140	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon3:c.C345G:p.N115K;TTC39C:NM_153211:exon3:c.C162G:p.N54K;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.C162G:p.N54K;ENSG00000168234:ENST00000317571:exon3:c.C345G:p.N115K;	4.12357944238319E-5	0.152
18	21646104	C	T	18	24066140	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon3:c.C345T:p.N115N;TTC39C:NM_153211:exon3:c.C162T:p.N54N;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon3:c.C162T:p.N54N;ENSG00000168234:ENST00000317571:exon3:c.C345T:p.N115N;	2.70742514183579E-4	0.174
18	21646105	G	A	18	24066141	y	y	splicing	TTC39C(NM_153211:exon3:c.162+1G>A;NM_001135993:exon3:c.345+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.162+1G>A;ENST00000317571:exon3:c.345+1G>A)	.	.	0.999986675681007	0.928
18	21646105	G	C	18	24066141	y	y	splicing	TTC39C(NM_153211:exon3:c.162+1G>C;NM_001135993:exon3:c.345+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.162+1G>C;ENST00000317571:exon3:c.345+1G>C)	.	.	0.999986675681007	0.934
18	21646105	G	T	18	24066141	y	y	splicing	TTC39C(NM_153211:exon3:c.162+1G>T;NM_001135993:exon3:c.345+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.162+1G>T;ENST00000317571:exon3:c.345+1G>T)	.	.	0.999986675681007	0.934
18	21646106	T	A	18	24066142	y	y	splicing	TTC39C(NM_153211:exon3:c.162+2T>A;NM_001135993:exon3:c.345+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.162+2T>A;ENST00000317571:exon3:c.345+2T>A)	.	.	0.999989917668626	0.924
18	21646106	T	C	18	24066142	y	y	splicing	TTC39C(NM_153211:exon3:c.162+2T>C;NM_001135993:exon3:c.345+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.162+2T>C;ENST00000317571:exon3:c.345+2T>C)	.	.	0.985266808656705	0.612
18	21646106	T	G	18	24066142	y	y	splicing	TTC39C(NM_153211:exon3:c.162+2T>G;NM_001135993:exon3:c.345+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon3:c.162+2T>G;ENST00000317571:exon3:c.345+2T>G)	.	.	0.999989917668626	0.924
18	21646107	A	C	18	24066143	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.971428408693498	0.676
18	21646107	A	G	18	24066143	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00102763189551982	0.066
18	21646107	A	T	18	24066143	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.997010145523956	0.724
18	21646108	A	C	18	24066144	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.283918301951499	0.38
18	21646108	A	G	18	24066144	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.656539112707952	0.524
18	21646108	A	T	18	24066144	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.655060216411755	0.478
18	21646109	G	A	18	24066145	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999759551666837	0.928
18	21646109	G	C	18	24066145	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999018618027638	0.91
18	21646109	G	T	18	24066145	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999034534236572	0.876
18	21646110	T	A	18	24066146	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.433165005687955	0.424
18	21646110	T	C	18	24066146	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.401656873426323	0.516
18	21646110	T	G	18	24066146	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.125568320413541	0.396
18	21646111	A	C	18	24066147	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.72410482137535E-6	0.0
18	21646111	A	G	18	24066147	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.20590404879984E-5	0.0
18	21646111	A	T	18	24066147	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.55312683788388E-6	0.0
18	21646112	T	A	18	24066148	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.53989001840752E-5	0.0
18	21646112	T	C	18	24066148	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.48733078181345E-5	0.0
18	21646112	T	G	18	24066148	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.53989001840752E-5	0.0
18	21649109	T	A	18	24069145	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.245110921685252	0.478
18	21649109	T	C	18	24069145	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00184846558033323	0.114
18	21649109	T	G	18	24069145	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.008836756687392	0.378
18	21649110	C	A	18	24069146	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00343485030744124	0.15
18	21649110	C	G	18	24069146	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00276160159578715	0.102
18	21649110	C	T	18	24069146	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.35606196330084E-4	0.018
18	21649111	T	A	18	24069147	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999757354238373	0.964
18	21649111	T	C	18	24069147	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.91686475300037E-4	0.006
18	21649111	T	G	18	24069147	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00819477017061234	0.246
18	21649112	G	A	18	24069148	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.62726721056204E-5	0.01
18	21649112	G	C	18	24069148	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.05828984940684E-5	0.0
18	21649112	G	T	18	24069148	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.05828984940684E-5	0.004
18	21649113	C	A	18	24069149	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00150910787969769	0.114
18	21649113	C	G	18	24069149	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0071643627581504	0.062
18	21649113	C	T	18	24069149	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.58800125253502E-4	0.122
18	21649114	C	A	18	24069150	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.01475632994293E-4	0.038
18	21649114	C	G	18	24069150	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.90185803482095E-5	0.058
18	21649114	C	T	18	24069150	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.55003197858756E-5	0.016
18	21649115	A	C	18	24069151	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.98501777021816E-5	0.0
18	21649115	A	G	18	24069151	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.2743360460898E-4	0.01
18	21649115	A	T	18	24069151	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.98501777021816E-5	0.008
18	21649116	A	C	18	24069152	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.16078078590347E-5	0.002
18	21649116	A	G	18	24069152	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.928069472132756	0.954
18	21649116	A	T	18	24069152	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.52515013039301E-5	0.002
18	21649117	A	C	18	24069153	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.47212559336472E-5	0.01
18	21649117	A	G	18	24069153	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.825576368218066	0.758
18	21649117	A	T	18	24069153	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.82100553872615E-4	0.014
18	21649118	C	A	18	24069154	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.348788834817132	0.456
18	21649118	C	G	18	24069154	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.994369588520649	0.792
18	21649118	C	T	18	24069154	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.5397565744807E-4	0.04
18	21649119	A	C	18	24069155	y	y	splicing	TTC39C(NM_153211:exon4:c.163-2A>C;NM_001135993:exon4:c.346-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.163-2A>C;ENST00000317571:exon4:c.346-2A>C)	.	.	0.999976254090479	0.938
18	21649119	A	G	18	24069155	y	y	splicing	TTC39C(NM_153211:exon4:c.163-2A>G;NM_001135993:exon4:c.346-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.163-2A>G;ENST00000317571:exon4:c.346-2A>G)	.	.	0.999976254090479	0.938
18	21649119	A	T	18	24069155	y	y	splicing	TTC39C(NM_153211:exon4:c.163-2A>T;NM_001135993:exon4:c.346-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.163-2A>T;ENST00000317571:exon4:c.346-2A>T)	.	.	0.999986741007567	0.94
18	21649120	G	A	18	24069156	y	y	splicing	TTC39C(NM_153211:exon4:c.163-1G>A;NM_001135993:exon4:c.346-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.163-1G>A;ENST00000317571:exon4:c.346-1G>A)	.	.	0.999983677848485	0.942
18	21649120	G	C	18	24069156	y	y	splicing	TTC39C(NM_153211:exon4:c.163-1G>C;NM_001135993:exon4:c.346-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.163-1G>C;ENST00000317571:exon4:c.346-1G>C)	.	.	0.999983677848485	0.942
18	21649120	G	T	18	24069156	y	y	splicing	TTC39C(NM_153211:exon4:c.163-1G>T;NM_001135993:exon4:c.346-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.163-1G>T;ENST00000317571:exon4:c.346-1G>T)	.	.	0.999983677848485	0.942
18	21649121	G	A	18	24069157	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.G346A:p.V116I;TTC39C:NM_153211:exon4:c.G163A:p.V55I;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.G163A:p.V55I;ENSG00000168234:ENST00000317571:exon4:c.G346A:p.V116I;	0.841513589290577	0.666
18	21649121	G	C	18	24069157	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.G346C:p.V116L;TTC39C:NM_153211:exon4:c.G163C:p.V55L;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.G163C:p.V55L;ENSG00000168234:ENST00000317571:exon4:c.G346C:p.V116L;	0.760838800943734	0.554
18	21649121	G	T	18	24069157	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.G346T:p.V116F;TTC39C:NM_153211:exon4:c.G163T:p.V55F;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.G163T:p.V55F;ENSG00000168234:ENST00000317571:exon4:c.G346T:p.V116F;	0.788957684936118	0.522
18	21649122	T	A	18	24069158	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.T347A:p.V116D;TTC39C:NM_153211:exon4:c.T164A:p.V55D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.T164A:p.V55D;ENSG00000168234:ENST00000317571:exon4:c.T347A:p.V116D;	0.00198550722643383	0.078
18	21649122	T	C	18	24069158	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.T347C:p.V116A;TTC39C:NM_153211:exon4:c.T164C:p.V55A;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.T164C:p.V55A;ENSG00000168234:ENST00000317571:exon4:c.T347C:p.V116A;	0.00217454767098025	0.074
18	21649122	T	G	18	24069158	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.T347G:p.V116G;TTC39C:NM_153211:exon4:c.T164G:p.V55G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.T164G:p.V55G;ENSG00000168234:ENST00000317571:exon4:c.T347G:p.V116G;	0.00360826565934824	0.174
18	21649233	C	A	18	24069269	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon4:c.C458A:p.S153X;TTC39C:NM_153211:exon4:c.C275A:p.S92X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000304621:exon4:c.C275A:p.S92X;ENSG00000168234:ENST00000317571:exon4:c.C458A:p.S153X;	0.92501363183229	0.85
18	21649233	C	G	18	24069269	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon4:c.C458G:p.S153X;TTC39C:NM_153211:exon4:c.C275G:p.S92X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000304621:exon4:c.C275G:p.S92X;ENSG00000168234:ENST00000317571:exon4:c.C458G:p.S153X;	0.854471571452026	0.69
18	21649233	C	T	18	24069269	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.C458T:p.S153L;TTC39C:NM_153211:exon4:c.C275T:p.S92L;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.C275T:p.S92L;ENSG00000168234:ENST00000317571:exon4:c.C458T:p.S153L;	0.998064682502419	0.96
18	21649234	A	C	18	24069270	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon4:c.A459C:p.S153S;TTC39C:NM_153211:exon4:c.A276C:p.S92S;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.A276C:p.S92S;ENSG00000168234:ENST00000317571:exon4:c.A459C:p.S153S;	0.988844895030966	0.828
18	21649234	A	G	18	24069270	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon4:c.A459G:p.S153S;TTC39C:NM_153211:exon4:c.A276G:p.S92S;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.A276G:p.S92S;ENSG00000168234:ENST00000317571:exon4:c.A459G:p.S153S;	0.974000218842731	0.796
18	21649234	A	T	18	24069270	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon4:c.A459T:p.S153S;TTC39C:NM_153211:exon4:c.A276T:p.S92S;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.A276T:p.S92S;ENSG00000168234:ENST00000317571:exon4:c.A459T:p.S153S;	0.996981703404809	0.934
18	21649235	G	A	18	24069271	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.G460A:p.A154T;TTC39C:NM_153211:exon4:c.G277A:p.A93T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.G277A:p.A93T;ENSG00000168234:ENST00000317571:exon4:c.G460A:p.A154T;	0.999983148173138	0.988
18	21649235	G	C	18	24069271	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.G460C:p.A154P;TTC39C:NM_153211:exon4:c.G277C:p.A93P;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.G277C:p.A93P;ENSG00000168234:ENST00000317571:exon4:c.G460C:p.A154P;	0.999997247587064	1.0
18	21649235	G	T	18	24069271	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon4:c.G460T:p.A154S;TTC39C:NM_153211:exon4:c.G277T:p.A93S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon4:c.G277T:p.A93S;ENSG00000168234:ENST00000317571:exon4:c.G460T:p.A154S;	0.999768419272661	0.998
18	21649236	G	A	18	24069272	y	y	splicing	TTC39C(NM_153211:exon4:c.277+1G>A;NM_001135993:exon4:c.460+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.277+1G>A;ENST00000317571:exon4:c.460+1G>A)	.	.	0.999985532734767	0.936
18	21649236	G	C	18	24069272	y	y	splicing	TTC39C(NM_153211:exon4:c.277+1G>C;NM_001135993:exon4:c.460+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.277+1G>C;ENST00000317571:exon4:c.460+1G>C)	.	.	0.999985532734767	0.936
18	21649236	G	T	18	24069272	y	y	splicing	TTC39C(NM_153211:exon4:c.277+1G>T;NM_001135993:exon4:c.460+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.277+1G>T;ENST00000317571:exon4:c.460+1G>T)	.	.	0.999985532734767	0.936
18	21649237	T	A	18	24069273	y	y	splicing	TTC39C(NM_153211:exon4:c.277+2T>A;NM_001135993:exon4:c.460+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.277+2T>A;ENST00000317571:exon4:c.460+2T>A)	.	.	0.999988247793601	0.928
18	21649237	T	C	18	24069273	y	y	splicing	TTC39C(NM_153211:exon4:c.277+2T>C;NM_001135993:exon4:c.460+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.277+2T>C;ENST00000317571:exon4:c.460+2T>C)	.	.	0.99340600729494	0.654
18	21649237	T	G	18	24069273	y	y	splicing	TTC39C(NM_153211:exon4:c.277+2T>G;NM_001135993:exon4:c.460+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon4:c.277+2T>G;ENST00000317571:exon4:c.460+2T>G)	.	.	0.999988247793601	0.928
18	21649238	A	C	18	24069274	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999673211041564	0.98
18	21649238	A	G	18	24069274	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99720843208285	0.93
18	21649238	A	T	18	24069274	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999552611387065	0.976
18	21649239	T	A	18	24069275	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.89064944926579E-5	0.058
18	21649239	T	C	18	24069275	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.88676497194834E-4	0.052
18	21649239	T	G	18	24069275	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.53952848985663E-5	0.002
18	21649240	G	A	18	24069276	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.998256684064204	0.802
18	21649240	G	C	18	24069276	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.998699867294578	0.84
18	21649240	G	T	18	24069276	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999325869043613	0.834
18	21649241	C	A	18	24069277	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.20232335840548E-4	0.01
18	21649241	C	G	18	24069277	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.29573338876249E-5	0.026
18	21649241	C	T	18	24069277	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.12528018133975E-5	0.006
18	21649242	T	A	18	24069278	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.95706818754876E-4	0.024
18	21649242	T	C	18	24069278	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.32432276431601E-4	0.036
18	21649242	T	G	18	24069278	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.2120892002435E-4	0.036
18	21649243	G	A	18	24069279	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.47910707523943E-5	0.002
18	21649243	G	C	18	24069279	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.82264575732229E-5	0.004
18	21649243	G	T	18	24069279	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.11015773640984E-5	0.002
18	21660537	T	A	18	24080573	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.73508545249666E-5	0.154
18	21660537	T	C	18	24080573	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	5.1412102572524E-5	0.084
18	21660537	T	G	18	24080573	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	5.04850647643928E-5	0.178
18	21660538	T	A	18	24080574	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0593734261371603	0.462
18	21660538	T	C	18	24080574	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0318237888049687	0.148
18	21660538	T	G	18	24080574	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0458149242486079	0.37
18	21660539	C	A	18	24080575	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00452662331976637	0.14
18	21660539	C	G	18	24080575	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00177858000652106	0.05
18	21660539	C	T	18	24080575	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	4.42637751287684E-4	0.014
18	21660540	T	A	18	24080576	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.68201989034327E-4	0.054
18	21660540	T	C	18	24080576	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.26465902377174E-4	0.04
18	21660540	T	G	18	24080576	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	8.64170337487984E-4	0.06
18	21660541	C	A	18	24080577	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0214645940738621	0.25
18	21660541	C	G	18	24080577	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0103110940891076	0.22
18	21660541	C	T	18	24080577	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0019207036226538	0.048
18	21660542	T	A	18	24080578	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00144472530395251	0.072
18	21660542	T	C	18	24080578	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.29654047402266E-4	0.004
18	21660542	T	G	18	24080578	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	5.61396335187338E-4	0.07
18	21660543	T	A	18	24080579	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00223767052785131	0.2
18	21660543	T	C	18	24080579	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.90352808952385E-4	0.026
18	21660543	T	G	18	24080579	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00213536741278223	0.222
18	21660544	T	A	18	24080580	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	6.78650352790026E-4	0.226
18	21660544	T	C	18	24080580	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.6319702414743E-4	0.102
18	21660544	T	G	18	24080580	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	7.999018040308E-4	0.206
18	21660545	T	A	18	24080581	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.16565042850301E-5	0.002
18	21660545	T	C	18	24080581	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.21181528839326E-5	0.016
18	21660545	T	G	18	24080581	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.13435623760693E-5	0.01
18	21660546	T	A	18	24080582	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.77660436000368E-4	0.03
18	21660546	T	C	18	24080582	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.3339459671022E-4	0.016
18	21660546	T	G	18	24080582	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.722579952444213	0.516
18	21660547	A	C	18	24080583	y	y	splicing	TTC39C(NM_153211:exon5:c.278-2A>C;NM_001135993:exon5:c.461-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.278-2A>C;ENST00000317571:exon5:c.461-2A>C)	.	.	0.999988247793601	0.928
18	21660547	A	G	18	24080583	y	y	splicing	TTC39C(NM_153211:exon5:c.278-2A>G;NM_001135993:exon5:c.461-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.278-2A>G;ENST00000317571:exon5:c.461-2A>G)	.	.	0.999988247793601	0.928
18	21660547	A	T	18	24080583	y	y	splicing	TTC39C(NM_153211:exon5:c.278-2A>T;NM_001135993:exon5:c.461-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.278-2A>T;ENST00000317571:exon5:c.461-2A>T)	.	.	0.999988247793601	0.928
18	21660548	G	A	18	24080584	y	y	splicing	TTC39C(NM_153211:exon5:c.278-1G>A;NM_001135993:exon5:c.461-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.278-1G>A;ENST00000317571:exon5:c.461-1G>A)	.	.	0.999989072007339	0.932
18	21660548	G	C	18	24080584	y	y	splicing	TTC39C(NM_153211:exon5:c.278-1G>C;NM_001135993:exon5:c.461-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.278-1G>C;ENST00000317571:exon5:c.461-1G>C)	.	.	0.999989072007339	0.932
18	21660548	G	T	18	24080584	y	y	splicing	TTC39C(NM_153211:exon5:c.278-1G>T;NM_001135993:exon5:c.461-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.278-1G>T;ENST00000317571:exon5:c.461-1G>T)	.	.	0.999989072007339	0.932
18	21660549	C	A	18	24080585	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.C461A:p.A154D;TTC39C:NM_153211:exon5:c.C278A:p.A93D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.C278A:p.A93D;ENSG00000168234:ENST00000317571:exon5:c.C461A:p.A154D;	0.770385130341473	0.648
18	21660549	C	G	18	24080585	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.C461G:p.A154G;TTC39C:NM_153211:exon5:c.C278G:p.A93G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.C278G:p.A93G;ENSG00000168234:ENST00000317571:exon5:c.C461G:p.A154G;	0.00260390021250225	0.084
18	21660549	C	T	18	24080585	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.C461T:p.A154V;TTC39C:NM_153211:exon5:c.C278T:p.A93V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.C278T:p.A93V;ENSG00000168234:ENST00000317571:exon5:c.C461T:p.A154V;	0.987900390054217	0.87
18	21660550	T	A	18	24080586	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon5:c.T462A:p.A154A;TTC39C:NM_153211:exon5:c.T279A:p.A93A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.T279A:p.A93A;ENSG00000168234:ENST00000317571:exon5:c.T462A:p.A154A;	2.15122831006212E-5	0.0
18	21660550	T	C	18	24080586	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon5:c.T462C:p.A154A;TTC39C:NM_153211:exon5:c.T279C:p.A93A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.T279C:p.A93A;ENSG00000168234:ENST00000317571:exon5:c.T462C:p.A154A;	1.63728683081476E-5	0.002
18	21660550	T	G	18	24080586	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon5:c.T462G:p.A154A;TTC39C:NM_153211:exon5:c.T279G:p.A93A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.T279G:p.A93A;ENSG00000168234:ENST00000317571:exon5:c.T462G:p.A154A;	3.16470487703939E-5	0.0
18	21660901	T	A	18	24080937	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon5:c.T813A:p.A271A;TTC39C:NM_153211:exon5:c.T630A:p.A210A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.T630A:p.A210A;ENSG00000168234:ENST00000317571:exon5:c.T813A:p.A271A;	0.00200247872455397	0.124
18	21660901	T	C	18	24080937	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon5:c.T813C:p.A271A;TTC39C:NM_153211:exon5:c.T630C:p.A210A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.T630C:p.A210A;ENSG00000168234:ENST00000317571:exon5:c.T813C:p.A271A;	9.74796804459087E-4	0.102
18	21660901	T	G	18	24080937	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon5:c.T813G:p.A271A;TTC39C:NM_153211:exon5:c.T630G:p.A210A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.T630G:p.A210A;ENSG00000168234:ENST00000317571:exon5:c.T813G:p.A271A;	0.00256183361279405	0.118
18	21660902	A	C	18	24080938	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.A814C:p.T272P;TTC39C:NM_153211:exon5:c.A631C:p.T211P;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.A631C:p.T211P;ENSG00000168234:ENST00000317571:exon5:c.A814C:p.T272P;	0.994349872361116	0.922
18	21660902	A	G	18	24080938	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.A814G:p.T272A;TTC39C:NM_153211:exon5:c.A631G:p.T211A;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.A631G:p.T211A;ENSG00000168234:ENST00000317571:exon5:c.A814G:p.T272A;	0.995418656087629	0.916
18	21660902	A	T	18	24080938	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.A814T:p.T272S;TTC39C:NM_153211:exon5:c.A631T:p.T211S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.A631T:p.T211S;ENSG00000168234:ENST00000317571:exon5:c.A814T:p.T272S;	0.999156507427969	0.936
18	21660903	C	A	18	24080939	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.C815A:p.T272K;TTC39C:NM_153211:exon5:c.C632A:p.T211K;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.C632A:p.T211K;ENSG00000168234:ENST00000317571:exon5:c.C815A:p.T272K;	0.410475567493541	0.426
18	21660903	C	G	18	24080939	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.C815G:p.T272R;TTC39C:NM_153211:exon5:c.C632G:p.T211R;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.C632G:p.T211R;ENSG00000168234:ENST00000317571:exon5:c.C815G:p.T272R;	0.117481008098418	0.468
18	21660903	C	T	18	24080939	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon5:c.C815T:p.T272I;TTC39C:NM_153211:exon5:c.C632T:p.T211I;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon5:c.C632T:p.T211I;ENSG00000168234:ENST00000317571:exon5:c.C815T:p.T272I;	0.723913606790276	0.544
18	21660904	G	A	18	24080940	y	y	splicing	TTC39C(NM_153211:exon5:c.632+1G>A;NM_001135993:exon5:c.815+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.632+1G>A;ENST00000317571:exon5:c.815+1G>A)	.	.	0.999990361384395	0.938
18	21660904	G	C	18	24080940	y	y	splicing	TTC39C(NM_153211:exon5:c.632+1G>C;NM_001135993:exon5:c.815+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.632+1G>C;ENST00000317571:exon5:c.815+1G>C)	.	.	0.999990361384395	0.938
18	21660904	G	T	18	24080940	y	y	splicing	TTC39C(NM_153211:exon5:c.632+1G>T;NM_001135993:exon5:c.815+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.632+1G>T;ENST00000317571:exon5:c.815+1G>T)	.	.	0.999990361384395	0.938
18	21660905	T	A	18	24080941	y	y	splicing	TTC39C(NM_153211:exon5:c.632+2T>A;NM_001135993:exon5:c.815+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.632+2T>A;ENST00000317571:exon5:c.815+2T>A)	.	.	0.999981808176352	0.918
18	21660905	T	C	18	24080941	y	y	splicing	TTC39C(NM_153211:exon5:c.632+2T>C;NM_001135993:exon5:c.815+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.632+2T>C;ENST00000317571:exon5:c.815+2T>C)	.	.	0.999965898635511	0.87
18	21660905	T	G	18	24080941	y	y	splicing	TTC39C(NM_153211:exon5:c.632+2T>G;NM_001135993:exon5:c.815+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon5:c.632+2T>G;ENST00000317571:exon5:c.815+2T>G)	.	.	0.999981808176352	0.918
18	21660906	G	A	18	24080942	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0081976582318327	0.196
18	21660906	G	C	18	24080942	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.997988794640059	0.864
18	21660906	G	T	18	24080942	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999390060211793	0.832
18	21660907	A	C	18	24080943	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999562355418336	0.912
18	21660907	A	G	18	24080943	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999872625093742	0.986
18	21660907	A	T	18	24080943	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999884420091792	0.944
18	21660908	G	A	18	24080944	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.99997461091917	1.0
18	21660908	G	C	18	24080944	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999976008337081	0.992
18	21660908	G	T	18	24080944	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999976008337081	0.978
18	21660909	T	A	18	24080945	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.998376235570219	0.8
18	21660909	T	C	18	24080945	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.992997276676595	0.922
18	21660909	T	G	18	24080945	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.997844371587565	0.936
18	21660910	A	C	18	24080946	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	5.54955278112454E-4	0.006
18	21660910	A	G	18	24080946	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.63675158079904E-4	0.004
18	21660910	A	T	18	24080946	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	9.93346654950927E-4	0.168
18	21660911	G	A	18	24080947	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0118347774864656	0.116
18	21660911	G	C	18	24080947	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00225606351684828	0.084
18	21660911	G	T	18	24080947	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00593904380392287	0.1
18	21662865	C	A	18	24082901	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	5.06734266646926E-4	0.04
18	21662865	C	G	18	24082901	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.39675609202918E-4	0.046
18	21662865	C	T	18	24082901	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.28259500956985E-4	0.0
18	21662866	T	A	18	24082902	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0022618242069791	0.192
18	21662866	T	C	18	24082902	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.50013745154402E-4	0.076
18	21662866	T	G	18	24082902	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	9.01730802834178E-4	0.15
18	21662867	C	A	18	24082903	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00167719377386365	0.176
18	21662867	C	G	18	24082903	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	5.65630013411052E-4	0.05
18	21662867	C	T	18	24082903	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.53756865110987E-5	0.004
18	21662868	T	A	18	24082904	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.03860777347273E-4	0.078
18	21662868	T	C	18	24082904	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.40956926045393E-4	0.048
18	21662868	T	G	18	24082904	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	5.4978147295559E-4	0.076
18	21662869	T	A	18	24082905	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.35260978276125E-4	0.1
18	21662869	T	C	18	24082905	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.01342696931598E-4	0.002
18	21662869	T	G	18	24082905	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	4.83900859203494E-4	0.11
18	21662870	C	A	18	24082906	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.03372204725157E-4	0.036
18	21662870	C	G	18	24082906	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.21009801452801E-4	0.018
18	21662870	C	T	18	24082906	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.50105263511326E-5	0.0
18	21662871	C	A	18	24082907	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.373491400792484	0.418
18	21662871	C	G	18	24082907	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.185366499295396	0.398
18	21662871	C	T	18	24082907	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00146363733565199	0.054
18	21662872	T	A	18	24082908	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00164440050674843	0.132
18	21662872	T	C	18	24082908	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.78300427023641E-4	0.034
18	21662872	T	G	18	24082908	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00206518847255322	0.12
18	21662873	C	A	18	24082909	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.191707869965E-5	0.004
18	21662873	C	G	18	24082909	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	5.76259583904822E-5	0.002
18	21662873	C	T	18	24082909	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.191707869965E-5	0.004
18	21662874	T	A	18	24082910	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0657039197433354	0.294
18	21662874	T	C	18	24082910	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	6.95323376602858E-5	0.006
18	21662874	T	G	18	24082910	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.634648191326142	0.616
18	21662875	A	C	18	24082911	y	y	splicing	TTC39C(NM_153211:exon6:c.633-2A>C;NM_001135993:exon6:c.816-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.633-2A>C;ENST00000317571:exon6:c.816-2A>C)	.	.	0.999988247793601	0.926
18	21662875	A	G	18	24082911	y	y	splicing	TTC39C(NM_153211:exon6:c.633-2A>G;NM_001135993:exon6:c.816-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.633-2A>G;ENST00000317571:exon6:c.816-2A>G)	.	.	0.999988247793601	0.926
18	21662875	A	T	18	24082911	y	y	splicing	TTC39C(NM_153211:exon6:c.633-2A>T;NM_001135993:exon6:c.816-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.633-2A>T;ENST00000317571:exon6:c.816-2A>T)	.	.	0.999988247793601	0.926
18	21662876	G	A	18	24082912	y	y	splicing	TTC39C(NM_153211:exon6:c.633-1G>A;NM_001135993:exon6:c.816-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.633-1G>A;ENST00000317571:exon6:c.816-1G>A)	.	.	0.999986675681007	0.932
18	21662876	G	C	18	24082912	y	y	splicing	TTC39C(NM_153211:exon6:c.633-1G>C;NM_001135993:exon6:c.816-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.633-1G>C;ENST00000317571:exon6:c.816-1G>C)	.	.	0.999986675681007	0.922
18	21662876	G	T	18	24082912	y	y	splicing	TTC39C(NM_153211:exon6:c.633-1G>T;NM_001135993:exon6:c.816-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.633-1G>T;ENST00000317571:exon6:c.816-1G>T)	.	.	0.999986675681007	0.932
18	21662877	A	C	18	24082913	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon6:c.A816C:p.T272T;TTC39C:NM_153211:exon6:c.A633C:p.T211T;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.A633C:p.T211T;ENSG00000168234:ENST00000317571:exon6:c.A816C:p.T272T;	1.23496097543993E-4	0.01
18	21662877	A	G	18	24082913	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon6:c.A816G:p.T272T;TTC39C:NM_153211:exon6:c.A633G:p.T211T;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.A633G:p.T211T;ENSG00000168234:ENST00000317571:exon6:c.A816G:p.T272T;	2.67014887193206E-5	0.0
18	21662877	A	T	18	24082913	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon6:c.A816T:p.T272T;TTC39C:NM_153211:exon6:c.A633T:p.T211T;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.A633T:p.T211T;ENSG00000168234:ENST00000317571:exon6:c.A816T:p.T272T;	9.98153604437407E-5	0.002
18	21662878	T	A	18	24082914	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.T817A:p.L273I;TTC39C:NM_153211:exon6:c.T634A:p.L212I;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.T634A:p.L212I;ENSG00000168234:ENST00000317571:exon6:c.T817A:p.L273I;	9.12833345774896E-6	0.068
18	21662878	T	C	18	24082914	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon6:c.T817C:p.L273L;TTC39C:NM_153211:exon6:c.T634C:p.L212L;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.T634C:p.L212L;ENSG00000168234:ENST00000317571:exon6:c.T817C:p.L273L;	4.0876947776775E-5	0.008
18	21662878	T	G	18	24082914	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.T817G:p.L273V;TTC39C:NM_153211:exon6:c.T634G:p.L212V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.T634G:p.L212V;ENSG00000168234:ENST00000317571:exon6:c.T817G:p.L273V;	2.5821448466893E-5	0.02
18	21663043	G	A	18	24083079	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.G982A:p.E328K;TTC39C:NM_153211:exon6:c.G799A:p.E267K;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.G799A:p.E267K;ENSG00000168234:ENST00000317571:exon6:c.G982A:p.E328K;	0.832386859224793	0.546
18	21663043	G	C	18	24083079	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.G982C:p.E328Q;TTC39C:NM_153211:exon6:c.G799C:p.E267Q;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.G799C:p.E267Q;ENSG00000168234:ENST00000317571:exon6:c.G982C:p.E328Q;	0.949129361270818	0.712
18	21663043	G	T	18	24083079	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon6:c.G982T:p.E328X;TTC39C:NM_153211:exon6:c.G799T:p.E267X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000304621:exon6:c.G799T:p.E267X;ENSG00000168234:ENST00000317571:exon6:c.G982T:p.E328X;	0.991900343685084	0.824
18	21663044	A	C	18	24083080	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.A983C:p.E328A;TTC39C:NM_153211:exon6:c.A800C:p.E267A;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.A800C:p.E267A;ENSG00000168234:ENST00000317571:exon6:c.A983C:p.E328A;	0.999932681536936	0.998
18	21663044	A	G	18	24083080	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.A983G:p.E328G;TTC39C:NM_153211:exon6:c.A800G:p.E267G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.A800G:p.E267G;ENSG00000168234:ENST00000317571:exon6:c.A983G:p.E328G;	0.999967664446556	0.996
18	21663044	A	T	18	24083080	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.A983T:p.E328V;TTC39C:NM_153211:exon6:c.A800T:p.E267V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.A800T:p.E267V;ENSG00000168234:ENST00000317571:exon6:c.A983T:p.E328V;	0.999967664446556	1.0
18	21663045	G	A	18	24083081	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon6:c.G984A:p.E328E;TTC39C:NM_153211:exon6:c.G801A:p.E267E;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.G801A:p.E267E;ENSG00000168234:ENST00000317571:exon6:c.G984A:p.E328E;	0.999978322197301	1.0
18	21663045	G	C	18	24083081	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.G984C:p.E328D;TTC39C:NM_153211:exon6:c.G801C:p.E267D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.G801C:p.E267D;ENSG00000168234:ENST00000317571:exon6:c.G984C:p.E328D;	0.99999572714706	1.0
18	21663045	G	T	18	24083081	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon6:c.G984T:p.E328D;TTC39C:NM_153211:exon6:c.G801T:p.E267D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000304621:exon6:c.G801T:p.E267D;ENSG00000168234:ENST00000317571:exon6:c.G984T:p.E328D;	0.999993585120544	1.0
18	21663046	G	A	18	24083082	y	y	splicing	TTC39C(NM_153211:exon6:c.801+1G>A;NM_001135993:exon6:c.984+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.801+1G>A;ENST00000317571:exon6:c.984+1G>A)	.	.	0.999989072007339	0.946
18	21663046	G	C	18	24083082	y	y	splicing	TTC39C(NM_153211:exon6:c.801+1G>C;NM_001135993:exon6:c.984+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.801+1G>C;ENST00000317571:exon6:c.984+1G>C)	.	.	0.999989072007339	0.946
18	21663046	G	T	18	24083082	y	y	splicing	TTC39C(NM_153211:exon6:c.801+1G>T;NM_001135993:exon6:c.984+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.801+1G>T;ENST00000317571:exon6:c.984+1G>T)	.	.	0.999989072007339	0.946
18	21663047	T	A	18	24083083	y	y	splicing	TTC39C(NM_153211:exon6:c.801+2T>A;NM_001135993:exon6:c.984+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.801+2T>A;ENST00000317571:exon6:c.984+2T>A)	.	.	0.999988247793601	0.942
18	21663047	T	C	18	24083083	y	y	splicing	TTC39C(NM_153211:exon6:c.801+2T>C;NM_001135993:exon6:c.984+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.801+2T>C;ENST00000317571:exon6:c.984+2T>C)	.	.	0.992054276455321	0.67
18	21663047	T	G	18	24083083	y	y	splicing	TTC39C(NM_153211:exon6:c.801+2T>G;NM_001135993:exon6:c.984+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon6:c.801+2T>G;ENST00000317571:exon6:c.984+2T>G)	.	.	0.999988247793601	0.942
18	21663048	A	C	18	24083084	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999891402303817	0.886
18	21663048	A	G	18	24083084	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999220009323158	0.962
18	21663048	A	T	18	24083084	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.999904207944556	0.874
18	21663049	C	A	18	24083085	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.50502249739515E-4	0.082
18	21663049	C	G	18	24083085	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0157414138960689	0.156
18	21663049	C	T	18	24083085	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00272094366862869	0.084
18	21663050	T	A	18	24083086	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	1.8024872606244E-4	0.076
18	21663050	T	C	18	24083086	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	7.91772516450903E-5	0.026
18	21663050	T	G	18	24083086	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.69692703090145E-4	0.082
18	21663051	G	A	18	24083087	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0217947403260636	0.35
18	21663051	G	C	18	24083087	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.0376473423659241	0.418
18	21663051	G	T	18	24083087	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00100106978575232	0.14
18	21663052	T	A	18	24083088	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	2.96286143834927E-4	0.084
18	21663052	T	C	18	24083088	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00114970582501072	0.096
18	21663052	T	G	18	24083088	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	0.00131615393161442	0.082
18	21663053	A	C	18	24083089	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	8.95843508177615E-5	0.006
18	21663053	A	G	18	24083089	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	9.11570077363014E-5	0.004
18	21663053	A	T	18	24083089	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000265204	.	.	3.22996364425918E-4	0.046
18	21694317	G	A	18	24114353	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	3.67272766448078E-5	0.0
18	21694317	G	C	18	24114353	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	3.67272766448078E-5	0.01
18	21694317	G	T	18	24114353	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	3.67272766448078E-5	0.0
18	21694318	A	C	18	24114354	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	5.15941453541388E-5	0.004
18	21694318	A	G	18	24114354	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	5.15941453541388E-5	0.004
18	21694318	A	T	18	24114354	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	5.15941453541388E-5	0.002
18	21694319	G	A	18	24114355	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	6.26007143607885E-5	0.006
18	21694319	G	C	18	24114355	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	1.44571914076258E-5	0.0
18	21694319	G	T	18	24114355	n	y	intronic	TTC39C	.	.	ncRNA_UTR5	ENSG00000168234	.	.	1.44571914076258E-5	0.002
18	21694320	G	A	18	24114356	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234	.	.	9.72760553213487E-5	0.0
18	21694320	G	C	18	24114356	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234	.	.	9.72760553213487E-5	0.004
18	21694320	G	T	18	24114356	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234	.	.	9.72760553213487E-5	0.0
18	21694321	T	A	18	24114357	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234	.	.	2.45277156108894E-5	0.0
18	21694321	T	C	18	24114357	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234	.	.	2.45277156108894E-5	0.0
18	21694321	T	G	18	24114357	n	y	intronic	TTC39C	.	.	splicing	ENSG00000168234	.	.	2.45277156108894E-5	0.0
18	21694322	T	A	18	24114358	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.83708300348738E-5	0.008
18	21694322	T	C	18	24114358	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.83708300348738E-5	0.004
18	21694322	T	G	18	24114358	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.83708300348738E-5	0.004
18	21694323	C	A	18	24114359	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	5.82683257725706E-5	0.024
18	21694323	C	G	18	24114359	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	5.82683257725706E-5	0.006
18	21694323	C	T	18	24114359	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	4.35742017695309E-5	0.002
18	21694324	T	A	18	24114360	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.19781876509063E-5	0.0
18	21694324	T	C	18	24114360	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.96362767612027E-5	0.0
18	21694324	T	G	18	24114360	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.96362767612027E-5	0.0
18	21694325	C	A	18	24114361	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.57076726553018E-5	0.0
18	21694325	C	G	18	24114361	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.57076726553018E-5	0.0
18	21694325	C	T	18	24114361	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.57076726553018E-5	0.0
18	21694326	T	A	18	24114362	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.9469183429777E-5	0.0
18	21694326	T	C	18	24114362	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	8.65778582306901E-5	0.002
18	21694326	T	G	18	24114362	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	8.65778582306901E-5	0.004
18	21694327	G	A	18	24114363	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	5.8840742393182E-5	0.004
18	21694327	G	C	18	24114363	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.10138825602451E-5	0.004
18	21694327	G	T	18	24114363	n	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.10138825602451E-5	0.004
18	21694506	T	A	18	24114542	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.98239513815065E-4	0.072
18	21694506	T	C	18	24114542	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	6.35665868023081E-5	0.02
18	21694506	T	G	18	24114542	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.57606123608397E-4	0.112
18	21694507	T	A	18	24114543	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00291594202031036	0.238
18	21694507	T	C	18	24114543	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.17669465386674E-4	0.108
18	21694507	T	G	18	24114543	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00119323419176642	0.202
18	21694508	T	A	18	24114544	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00172496465403835	0.148
18	21694508	T	C	18	24114544	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.2332897580628E-4	0.028
18	21694508	T	G	18	24114544	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.35653617404734E-4	0.272
18	21694509	T	A	18	24114545	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00150974494554077	0.128
18	21694509	T	C	18	24114545	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.34036751999393E-4	0.076
18	21694509	T	G	18	24114545	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00116996394916681	0.188
18	21694510	C	A	18	24114546	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	8.58232075319863E-5	0.012
18	21694510	C	G	18	24114546	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	4.99962913242337E-5	0.032
18	21694510	C	T	18	24114546	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.76362822829283E-5	0.0
18	21694511	T	A	18	24114547	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	4.73578254359866E-4	0.036
18	21694511	T	C	18	24114547	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	9.51078827245203E-5	0.0
18	21694511	T	G	18	24114547	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.85472964170445E-4	0.028
18	21694512	C	A	18	24114548	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	9.17581282396491E-4	0.042
18	21694512	C	G	18	24114548	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00139633320836016	0.036
18	21694512	C	T	18	24114548	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.8046154021495E-5	0.004
18	21694513	C	A	18	24114549	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00170371751287305	0.098
18	21694513	C	G	18	24114549	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00173019883254014	0.116
18	21694513	C	T	18	24114549	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	8.39691869178279E-5	0.002
18	21694514	T	A	18	24114550	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.10955658045638E-5	0.006
18	21694514	T	C	18	24114550	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.74447229399209E-5	0.0
18	21694514	T	G	18	24114550	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.15131903420607E-5	0.002
18	21694515	T	A	18	24114551	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.0258214173463481	0.278
18	21694515	T	C	18	24114551	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.25214036357575E-5	0.01
18	21694515	T	G	18	24114551	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.990947976580813	0.74
18	21694516	A	C	18	24114552	y	y	splicing	TTC39C(NM_153211:exon7:c.802-2A>C;NM_001135993:exon7:c.985-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.802-2A>C;ENST00000317571:exon7:c.985-2A>C;ENST00000540918:exon2:c.64-2A>C)	.	.	0.999988247793601	0.926
18	21694516	A	G	18	24114552	y	y	splicing	TTC39C(NM_153211:exon7:c.802-2A>G;NM_001135993:exon7:c.985-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.802-2A>G;ENST00000317571:exon7:c.985-2A>G;ENST00000540918:exon2:c.64-2A>G)	.	.	0.999988247793601	0.926
18	21694516	A	T	18	24114552	y	y	splicing	TTC39C(NM_153211:exon7:c.802-2A>T;NM_001135993:exon7:c.985-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.802-2A>T;ENST00000317571:exon7:c.985-2A>T;ENST00000540918:exon2:c.64-2A>T)	.	.	0.999988247793601	0.926
18	21694517	G	A	18	24114553	y	y	splicing	TTC39C(NM_153211:exon7:c.802-1G>A;NM_001135993:exon7:c.985-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.802-1G>A;ENST00000317571:exon7:c.985-1G>A;ENST00000540918:exon2:c.64-1G>A)	.	.	0.999985532734767	0.936
18	21694517	G	C	18	24114553	y	y	splicing	TTC39C(NM_153211:exon7:c.802-1G>C;NM_001135993:exon7:c.985-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.802-1G>C;ENST00000317571:exon7:c.985-1G>C;ENST00000540918:exon2:c.64-1G>C)	.	.	0.999985532734767	0.936
18	21694517	G	T	18	24114553	y	y	splicing	TTC39C(NM_153211:exon7:c.802-1G>T;NM_001135993:exon7:c.985-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.802-1G>T;ENST00000317571:exon7:c.985-1G>T;ENST00000540918:exon2:c.64-1G>T)	.	.	0.999985532734767	0.936
18	21694518	T	A	18	24114554	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.T985A:p.C329S;TTC39C:NM_153211:exon7:c.T802A:p.C268S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T64A:p.C22S;ENSG00000168234:ENST00000304621:exon7:c.T802A:p.C268S;ENSG00000168234:ENST00000317571:exon7:c.T985A:p.C329S;	2.70181769947903E-4	0.006
18	21694518	T	C	18	24114554	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.T985C:p.C329R;TTC39C:NM_153211:exon7:c.T802C:p.C268R;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T64C:p.C22R;ENSG00000168234:ENST00000304621:exon7:c.T802C:p.C268R;ENSG00000168234:ENST00000317571:exon7:c.T985C:p.C329R;	0.0155799140412182	0.052
18	21694518	T	G	18	24114554	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.T985G:p.C329G;TTC39C:NM_153211:exon7:c.T802G:p.C268G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T64G:p.C22G;ENSG00000168234:ENST00000304621:exon7:c.T802G:p.C268G;ENSG00000168234:ENST00000317571:exon7:c.T985G:p.C329G;	7.80671618444226E-4	0.044
18	21694519	G	A	18	24114555	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.G986A:p.C329Y;TTC39C:NM_153211:exon7:c.G803A:p.C268Y;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.G65A:p.C22Y;ENSG00000168234:ENST00000304621:exon7:c.G803A:p.C268Y;ENSG00000168234:ENST00000317571:exon7:c.G986A:p.C329Y;	0.973341641063931	0.664
18	21694519	G	C	18	24114555	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.G986C:p.C329S;TTC39C:NM_153211:exon7:c.G803C:p.C268S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.G65C:p.C22S;ENSG00000168234:ENST00000304621:exon7:c.G803C:p.C268S;ENSG00000168234:ENST00000317571:exon7:c.G986C:p.C329S;	0.00276151803159024	0.07
18	21694519	G	T	18	24114555	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.G986T:p.C329F;TTC39C:NM_153211:exon7:c.G803T:p.C268F;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.G65T:p.C22F;ENSG00000168234:ENST00000304621:exon7:c.G803T:p.C268F;ENSG00000168234:ENST00000317571:exon7:c.G986T:p.C329F;	0.975702858219756	0.822
18	21694609	T	A	18	24114645	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.T1076A:p.I359N;TTC39C:NM_153211:exon7:c.T893A:p.I298N;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T155A:p.I52N;ENSG00000168234:ENST00000304621:exon7:c.T893A:p.I298N;ENSG00000168234:ENST00000317571:exon7:c.T1076A:p.I359N;	0.652676267218412	0.666
18	21694609	T	C	18	24114645	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.T1076C:p.I359T;TTC39C:NM_153211:exon7:c.T893C:p.I298T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T155C:p.I52T;ENSG00000168234:ENST00000304621:exon7:c.T893C:p.I298T;ENSG00000168234:ENST00000317571:exon7:c.T1076C:p.I359T;	0.650052318433104	0.66
18	21694609	T	G	18	24114645	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.T1076G:p.I359S;TTC39C:NM_153211:exon7:c.T893G:p.I298S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T155G:p.I52S;ENSG00000168234:ENST00000304621:exon7:c.T893G:p.I298S;ENSG00000168234:ENST00000317571:exon7:c.T1076G:p.I359S;	0.707768598560005	0.792
18	21694610	T	A	18	24114646	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon7:c.T1077A:p.I359I;TTC39C:NM_153211:exon7:c.T894A:p.I298I;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T156A:p.I52I;ENSG00000168234:ENST00000304621:exon7:c.T894A:p.I298I;ENSG00000168234:ENST00000317571:exon7:c.T1077A:p.I359I;	4.35606143169235E-4	0.226
18	21694610	T	C	18	24114646	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon7:c.T1077C:p.I359I;TTC39C:NM_153211:exon7:c.T894C:p.I298I;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T156C:p.I52I;ENSG00000168234:ENST00000304621:exon7:c.T894C:p.I298I;ENSG00000168234:ENST00000317571:exon7:c.T1077C:p.I359I;	8.92543190381313E-4	0.1
18	21694610	T	G	18	24114646	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.T1077G:p.I359M;TTC39C:NM_153211:exon7:c.T894G:p.I298M;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.T156G:p.I52M;ENSG00000168234:ENST00000304621:exon7:c.T894G:p.I298M;ENSG00000168234:ENST00000317571:exon7:c.T1077G:p.I359M;	0.00139514692364956	0.244
18	21694611	G	A	18	24114647	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.G1078A:p.G360S;TTC39C:NM_153211:exon7:c.G895A:p.G299S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.G157A:p.G53S;ENSG00000168234:ENST00000304621:exon7:c.G895A:p.G299S;ENSG00000168234:ENST00000317571:exon7:c.G1078A:p.G360S;	0.999994181243026	0.998
18	21694611	G	C	18	24114647	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.G1078C:p.G360R;TTC39C:NM_153211:exon7:c.G895C:p.G299R;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.G157C:p.G53R;ENSG00000168234:ENST00000304621:exon7:c.G895C:p.G299R;ENSG00000168234:ENST00000317571:exon7:c.G1078C:p.G360R;	0.999995970766287	1.0
18	21694611	G	T	18	24114647	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon7:c.G1078T:p.G360C;TTC39C:NM_153211:exon7:c.G895T:p.G299C;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon2:c.G157T:p.G53C;ENSG00000168234:ENST00000304621:exon7:c.G895T:p.G299C;ENSG00000168234:ENST00000317571:exon7:c.G1078T:p.G360C;	0.99999006121748	1.0
18	21694612	G	A	18	24114648	y	y	splicing	TTC39C(NM_153211:exon7:c.895+1G>A;NM_001135993:exon7:c.1078+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.895+1G>A;ENST00000317571:exon7:c.1078+1G>A;ENST00000540918:exon2:c.157+1G>A)	.	.	0.999985532734767	0.936
18	21694612	G	C	18	24114648	y	y	splicing	TTC39C(NM_153211:exon7:c.895+1G>C;NM_001135993:exon7:c.1078+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.895+1G>C;ENST00000317571:exon7:c.1078+1G>C;ENST00000540918:exon2:c.157+1G>C)	.	.	0.999985532734767	0.936
18	21694612	G	T	18	24114648	y	y	splicing	TTC39C(NM_153211:exon7:c.895+1G>T;NM_001135993:exon7:c.1078+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.895+1G>T;ENST00000317571:exon7:c.1078+1G>T;ENST00000540918:exon2:c.157+1G>T)	.	.	0.999985532734767	0.936
18	21694613	T	A	18	24114649	y	y	splicing	TTC39C(NM_153211:exon7:c.895+2T>A;NM_001135993:exon7:c.1078+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.895+2T>A;ENST00000317571:exon7:c.1078+2T>A;ENST00000540918:exon2:c.157+2T>A)	.	.	0.999988247793601	0.928
18	21694613	T	C	18	24114649	y	y	splicing	TTC39C(NM_153211:exon7:c.895+2T>C;NM_001135993:exon7:c.1078+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.895+2T>C;ENST00000317571:exon7:c.1078+2T>C;ENST00000540918:exon2:c.157+2T>C)	.	.	0.998073660937629	0.764
18	21694613	T	G	18	24114649	y	y	splicing	TTC39C(NM_153211:exon7:c.895+2T>G;NM_001135993:exon7:c.1078+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon7:c.895+2T>G;ENST00000317571:exon7:c.1078+2T>G;ENST00000540918:exon2:c.157+2T>G)	.	.	0.999988247793601	0.926
18	21694614	A	C	18	24114650	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.999940964104075	0.962
18	21694614	A	G	18	24114650	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.999716430606587	0.938
18	21694614	A	T	18	24114650	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.999940964104075	0.948
18	21694615	A	C	18	24114651	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.988854063940181	0.796
18	21694615	A	G	18	24114651	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.999143895656524	0.914
18	21694615	A	T	18	24114651	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.990918650820232	0.892
18	21694616	A	C	18	24114652	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00123866079811267	0.102
18	21694616	A	G	18	24114652	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.82643590355445E-4	0.1
18	21694616	A	T	18	24114652	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.93520678991276E-4	0.038
18	21694617	T	A	18	24114653	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.931973949698532	0.614
18	21694617	T	C	18	24114653	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.956122978234046	0.694
18	21694617	T	G	18	24114653	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.0324847483530849	0.404
18	21694618	G	A	18	24114654	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	6.04512109112378E-5	0.0
18	21694618	G	C	18	24114654	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	5.19522129062424E-5	0.002
18	21694618	G	T	18	24114654	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.53341332227846E-4	0.028
18	21694619	T	A	18	24114655	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	5.80318221864679E-5	0.0
18	21694619	T	C	18	24114655	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	4.03765417231877E-5	0.0
18	21694619	T	G	18	24114655	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.68369071027841E-5	0.0
18	21698077	T	A	18	24118113	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.0149603843518799	0.136
18	21698077	T	C	18	24118113	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00101740999041711	0.114
18	21698077	T	G	18	24118113	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.999414861881023	0.962
18	21698078	T	A	18	24118114	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.17496505563899E-4	0.166
18	21698078	T	C	18	24118114	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.29312184904619E-4	0.044
18	21698078	T	G	18	24118114	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	4.3061886279758E-4	0.186
18	21698079	T	A	18	24118115	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.013231279632323	0.124
18	21698079	T	C	18	24118115	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	6.42147577117902E-4	0.01
18	21698079	T	G	18	24118115	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.0191406631468938	0.122
18	21698080	C	A	18	24118116	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00402016718246372	0.058
18	21698080	C	G	18	24118116	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00215451698956766	0.046
18	21698080	C	T	18	24118116	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.85036462106277E-4	0.034
18	21698081	T	A	18	24118117	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.0147783299678038	0.15
18	21698081	T	C	18	24118117	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00131416455558936	0.034
18	21698081	T	G	18	24118117	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.00298862718663938	0.082
18	21698082	T	A	18	24118118	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.51420789227506E-4	0.046
18	21698082	T	C	18	24118118	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.3741057977465E-5	0.0
18	21698082	T	G	18	24118118	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.0011511668206188	0.044
18	21698083	T	A	18	24118119	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.56392534242117E-4	0.052
18	21698083	T	C	18	24118119	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.90127469559218E-5	0.002
18	21698083	T	G	18	24118119	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	4.03758875657367E-4	0.044
18	21698084	C	A	18	24118120	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	7.82254817817955E-5	0.008
18	21698084	C	G	18	24118120	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.39551893744374E-4	0.014
18	21698084	C	T	18	24118120	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.80066911475496E-5	0.006
18	21698085	A	C	18	24118121	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.15883371227213E-5	0.006
18	21698085	A	G	18	24118121	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.70895625433285E-5	0.014
18	21698085	A	T	18	24118121	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.4291453738588E-5	0.0
18	21698086	T	A	18	24118122	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.58275056027054E-4	0.074
18	21698086	T	C	18	24118122	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	9.1939573790214E-5	0.018
18	21698086	T	G	18	24118122	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.882700070254675	0.622
18	21698087	A	C	18	24118123	y	y	splicing	TTC39C(NM_153211:exon8:c.896-2A>C;NM_001135993:exon8:c.1079-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.896-2A>C;ENST00000317571:exon8:c.1079-2A>C;ENST00000540918:exon3:c.158-2A>C)	.	.	0.999986903042585	0.928
18	21698087	A	G	18	24118123	y	y	splicing	TTC39C(NM_153211:exon8:c.896-2A>G;NM_001135993:exon8:c.1079-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.896-2A>G;ENST00000317571:exon8:c.1079-2A>G;ENST00000540918:exon3:c.158-2A>G)	.	.	0.999986903042585	0.928
18	21698087	A	T	18	24118123	y	y	splicing	TTC39C(NM_153211:exon8:c.896-2A>T;NM_001135993:exon8:c.1079-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.896-2A>T;ENST00000317571:exon8:c.1079-2A>T;ENST00000540918:exon3:c.158-2A>T)	.	.	0.999989917668626	0.926
18	21698088	G	A	18	24118124	y	y	splicing	TTC39C(NM_153211:exon8:c.896-1G>A;NM_001135993:exon8:c.1079-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.896-1G>A;ENST00000317571:exon8:c.1079-1G>A;ENST00000540918:exon3:c.158-1G>A)	.	.	0.999981760802075	0.936
18	21698088	G	C	18	24118124	y	y	splicing	TTC39C(NM_153211:exon8:c.896-1G>C;NM_001135993:exon8:c.1079-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.896-1G>C;ENST00000317571:exon8:c.1079-1G>C;ENST00000540918:exon3:c.158-1G>C)	.	.	0.999981760802075	0.936
18	21698088	G	T	18	24118124	y	y	splicing	TTC39C(NM_153211:exon8:c.896-1G>T;NM_001135993:exon8:c.1079-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.896-1G>T;ENST00000317571:exon8:c.1079-1G>T;ENST00000540918:exon3:c.158-1G>T)	.	.	0.999981760802075	0.936
18	21698089	G	A	18	24118125	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.G1079A:p.G360D;TTC39C:NM_153211:exon8:c.G896A:p.G299D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.G158A:p.G53D;ENSG00000168234:ENST00000304621:exon8:c.G896A:p.G299D;ENSG00000168234:ENST00000317571:exon8:c.G1079A:p.G360D;	0.998847519609013	0.88
18	21698089	G	C	18	24118125	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.G1079C:p.G360A;TTC39C:NM_153211:exon8:c.G896C:p.G299A;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.G158C:p.G53A;ENSG00000168234:ENST00000304621:exon8:c.G896C:p.G299A;ENSG00000168234:ENST00000317571:exon8:c.G1079C:p.G360A;	0.999365834922591	0.968
18	21698089	G	T	18	24118125	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.G1079T:p.G360V;TTC39C:NM_153211:exon8:c.G896T:p.G299V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.G158T:p.G53V;ENSG00000168234:ENST00000304621:exon8:c.G896T:p.G299V;ENSG00000168234:ENST00000317571:exon8:c.G1079T:p.G360V;	0.999628261017499	0.988
18	21698090	T	A	18	24118126	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon8:c.T1080A:p.G360G;TTC39C:NM_153211:exon8:c.T897A:p.G299G;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.T159A:p.G53G;ENSG00000168234:ENST00000304621:exon8:c.T897A:p.G299G;ENSG00000168234:ENST00000317571:exon8:c.T1080A:p.G360G;	2.15043877267264E-4	0.012
18	21698090	T	C	18	24118126	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon8:c.T1080C:p.G360G;TTC39C:NM_153211:exon8:c.T897C:p.G299G;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.T159C:p.G53G;ENSG00000168234:ENST00000304621:exon8:c.T897C:p.G299G;ENSG00000168234:ENST00000317571:exon8:c.T1080C:p.G360G;	1.34262046803581E-4	0.02
18	21698090	T	G	18	24118126	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon8:c.T1080G:p.G360G;TTC39C:NM_153211:exon8:c.T897G:p.G299G;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.T159G:p.G53G;ENSG00000168234:ENST00000304621:exon8:c.T897G:p.G299G;ENSG00000168234:ENST00000317571:exon8:c.T1080G:p.G360G;	3.65712870878066E-4	0.006
18	21698194	C	A	18	24118230	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.C1184A:p.A395E;TTC39C:NM_153211:exon8:c.C1001A:p.A334E;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.C263A:p.A88E;ENSG00000168234:ENST00000579214:exon3:c.C95A:p.A32E;ENSG00000168234:ENST00000304621:exon8:c.C1001A:p.A334E;ENSG00000168234:ENST00000317571:exon8:c.C1184A:p.A395E;	0.56809941230371	0.506
18	21698194	C	G	18	24118230	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.C1184G:p.A395G;TTC39C:NM_153211:exon8:c.C1001G:p.A334G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.C263G:p.A88G;ENSG00000168234:ENST00000579214:exon3:c.C95G:p.A32G;ENSG00000168234:ENST00000304621:exon8:c.C1001G:p.A334G;ENSG00000168234:ENST00000317571:exon8:c.C1184G:p.A395G;	0.510424999124993	0.394
18	21698194	C	T	18	24118230	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.C1184T:p.A395V;TTC39C:NM_153211:exon8:c.C1001T:p.A334V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.C263T:p.A88V;ENSG00000168234:ENST00000579214:exon3:c.C95T:p.A32V;ENSG00000168234:ENST00000304621:exon8:c.C1001T:p.A334V;ENSG00000168234:ENST00000317571:exon8:c.C1184T:p.A395V;	0.980414729058331	0.64
18	21698195	A	C	18	24118231	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon8:c.A1185C:p.A395A;TTC39C:NM_153211:exon8:c.A1002C:p.A334A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.A264C:p.A88A;ENSG00000168234:ENST00000579214:exon3:c.A96C:p.A32A;ENSG00000168234:ENST00000304621:exon8:c.A1002C:p.A334A;ENSG00000168234:ENST00000317571:exon8:c.A1185C:p.A395A;	0.0915208476012919	0.536
18	21698195	A	G	18	24118231	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon8:c.A1185G:p.A395A;TTC39C:NM_153211:exon8:c.A1002G:p.A334A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.A264G:p.A88A;ENSG00000168234:ENST00000579214:exon3:c.A96G:p.A32A;ENSG00000168234:ENST00000304621:exon8:c.A1002G:p.A334A;ENSG00000168234:ENST00000317571:exon8:c.A1185G:p.A395A;	0.248867375032688	0.464
18	21698195	A	T	18	24118231	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon8:c.A1185T:p.A395A;TTC39C:NM_153211:exon8:c.A1002T:p.A334A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.A264T:p.A88A;ENSG00000168234:ENST00000579214:exon3:c.A96T:p.A32A;ENSG00000168234:ENST00000304621:exon8:c.A1002T:p.A334A;ENSG00000168234:ENST00000317571:exon8:c.A1185T:p.A395A;	0.199559541749594	0.518
18	21698196	G	A	18	24118232	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.G1186A:p.V396I;TTC39C:NM_153211:exon8:c.G1003A:p.V335I;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.G265A:p.V89I;ENSG00000168234:ENST00000579214:exon3:c.G97A:p.V33I;ENSG00000168234:ENST00000304621:exon8:c.G1003A:p.V335I;ENSG00000168234:ENST00000317571:exon8:c.G1186A:p.V396I;	0.999428705874178	0.906
18	21698196	G	C	18	24118232	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.G1186C:p.V396L;TTC39C:NM_153211:exon8:c.G1003C:p.V335L;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.G265C:p.V89L;ENSG00000168234:ENST00000579214:exon3:c.G97C:p.V33L;ENSG00000168234:ENST00000304621:exon8:c.G1003C:p.V335L;ENSG00000168234:ENST00000317571:exon8:c.G1186C:p.V396L;	0.999844146260498	0.928
18	21698196	G	T	18	24118232	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon8:c.G1186T:p.V396F;TTC39C:NM_153211:exon8:c.G1003T:p.V335F;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon3:c.G265T:p.V89F;ENSG00000168234:ENST00000579214:exon3:c.G97T:p.V33F;ENSG00000168234:ENST00000304621:exon8:c.G1003T:p.V335F;ENSG00000168234:ENST00000317571:exon8:c.G1186T:p.V396F;	0.998628644890208	0.898
18	21698197	G	A	18	24118233	y	y	splicing	TTC39C(NM_153211:exon8:c.1003+1G>A;NM_001135993:exon8:c.1186+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.1003+1G>A;ENST00000317571:exon8:c.1186+1G>A;ENST00000540918:exon3:c.265+1G>A;ENST00000579214:exon3:c.97+1G>A)	.	.	0.999981760802075	0.938
18	21698197	G	C	18	24118233	y	y	splicing	TTC39C(NM_153211:exon8:c.1003+1G>C;NM_001135993:exon8:c.1186+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.1003+1G>C;ENST00000317571:exon8:c.1186+1G>C;ENST00000540918:exon3:c.265+1G>C;ENST00000579214:exon3:c.97+1G>C)	.	.	0.999981760802075	0.938
18	21698197	G	T	18	24118233	y	y	splicing	TTC39C(NM_153211:exon8:c.1003+1G>T;NM_001135993:exon8:c.1186+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.1003+1G>T;ENST00000317571:exon8:c.1186+1G>T;ENST00000540918:exon3:c.265+1G>T;ENST00000579214:exon3:c.97+1G>T)	.	.	0.999981760802075	0.938
18	21698198	T	A	18	24118234	y	y	splicing	TTC39C(NM_153211:exon8:c.1003+2T>A;NM_001135993:exon8:c.1186+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.1003+2T>A;ENST00000317571:exon8:c.1186+2T>A;ENST00000540918:exon3:c.265+2T>A;ENST00000579214:exon3:c.97+2T>A)	.	.	0.999989917668626	0.926
18	21698198	T	C	18	24118234	y	y	splicing	TTC39C(NM_153211:exon8:c.1003+2T>C;NM_001135993:exon8:c.1186+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.1003+2T>C;ENST00000317571:exon8:c.1186+2T>C;ENST00000540918:exon3:c.265+2T>C;ENST00000579214:exon3:c.97+2T>C)	.	.	0.999939711763648	0.86
18	21698198	T	G	18	24118234	y	y	splicing	TTC39C(NM_153211:exon8:c.1003+2T>G;NM_001135993:exon8:c.1186+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon8:c.1003+2T>G;ENST00000317571:exon8:c.1186+2T>G;ENST00000540918:exon3:c.265+2T>G;ENST00000579214:exon3:c.97+2T>G)	.	.	0.999989917668626	0.926
18	21698199	G	A	18	24118235	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.04057031173393E-5	0.0
18	21698199	G	C	18	24118235	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.030155840065298	0.27
18	21698199	G	T	18	24118235	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.0225923947279675	0.304
18	21698200	A	C	18	24118236	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.167423517730757	0.234
18	21698200	A	G	18	24118236	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.804925648769832	0.524
18	21698200	A	T	18	24118236	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.921080498616506	0.54
18	21698201	G	A	18	24118237	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.998072997840491	0.93
18	21698201	G	C	18	24118237	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.997161488688998	0.878
18	21698201	G	T	18	24118237	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.997071683671397	0.906
18	21698202	T	A	18	24118238	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.225522809872223	0.376
18	21698202	T	C	18	24118238	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.314763077645404	0.474
18	21698202	T	G	18	24118238	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	0.0183366190401649	0.266
18	21698203	C	A	18	24118239	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	1.97704761966359E-5	0.0
18	21698203	C	G	18	24118239	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.30691927753517E-5	0.0
18	21698203	C	T	18	24118239	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	2.30691927753517E-5	0.0
18	21698204	G	A	18	24118240	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.57076726553018E-5	0.0
18	21698204	G	C	18	24118240	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.4887794681632E-5	0.0
18	21698204	G	T	18	24118240	y	y	intronic	TTC39C	.	.	ncRNA_intronic	ENSG00000264924	.	.	3.57076726553018E-5	0.0
18	21703786	G	A	18	24123822	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.994409060669381	0.956
18	21703786	G	C	18	24123822	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.23192248183593E-5	0.0
18	21703786	G	T	18	24123822	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.57314065929654E-5	0.0
18	21703787	G	A	18	24123823	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.25356033443188E-5	0.0
18	21703787	G	C	18	24123823	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.53645202790321E-5	0.002
18	21703787	G	T	18	24123823	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.16252326747425E-5	0.004
18	21703788	T	A	18	24123824	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.099212252132057	0.312
18	21703788	T	C	18	24123824	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.40210024636803E-4	0.056
18	21703788	T	G	18	24123824	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.025872538052682	0.182
18	21703789	T	A	18	24123825	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00169321801959272	0.052
18	21703789	T	C	18	24123825	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.3324901456048E-5	0.004
18	21703789	T	G	18	24123825	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00111309003104762	0.086
18	21703790	T	A	18	24123826	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.664786448907714	0.572
18	21703790	T	C	18	24123826	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00124417892113829	0.07
18	21703790	T	G	18	24123826	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.175505446597219	0.514
18	21703791	C	A	18	24123827	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00950087472736059	0.166
18	21703791	C	G	18	24123827	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00388051436762029	0.12
18	21703791	C	T	18	24123827	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.51106148824342E-4	0.0
18	21703792	T	A	18	24123828	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.800542307768094	0.464
18	21703792	T	C	18	24123828	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00270129646563688	0.068
18	21703792	T	G	18	24123828	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.960110858117681	0.598
18	21703793	T	A	18	24123829	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.329770438286648	0.53
18	21703793	T	C	18	24123829	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.87780040272534E-4	0.048
18	21703793	T	G	18	24123829	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.401733801550851	0.536
18	21703794	A	C	18	24123830	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.6734063232817E-6	0.0
18	21703794	A	G	18	24123830	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.38672283886459E-5	0.0
18	21703794	A	T	18	24123830	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.47732701109452E-5	0.0
18	21703795	C	A	18	24123831	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999835866838246	0.872
18	21703795	C	G	18	24123831	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999701336351672	0.962
18	21703795	C	T	18	24123831	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.124984482389493	0.156
18	21703796	A	C	18	24123832	y	y	splicing	TTC39C(NM_153211:exon9:c.1004-2A>C;NM_001135993:exon9:c.1187-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1004-2A>C;ENST00000317571:exon9:c.1187-2A>C;ENST00000540918:exon4:c.266-2A>C;ENST00000579214:exon4:c.98-2A>C)	.	.	0.999988247793601	0.928
18	21703796	A	G	18	24123832	y	y	splicing	TTC39C(NM_153211:exon9:c.1004-2A>G;NM_001135993:exon9:c.1187-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1004-2A>G;ENST00000317571:exon9:c.1187-2A>G;ENST00000540918:exon4:c.266-2A>G;ENST00000579214:exon4:c.98-2A>G)	.	.	0.999988247793601	0.928
18	21703796	A	T	18	24123832	y	y	splicing	TTC39C(NM_153211:exon9:c.1004-2A>T;NM_001135993:exon9:c.1187-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1004-2A>T;ENST00000317571:exon9:c.1187-2A>T;ENST00000540918:exon4:c.266-2A>T;ENST00000579214:exon4:c.98-2A>T)	.	.	0.999988247793601	0.928
18	21703797	G	A	18	24123833	y	y	splicing	TTC39C(NM_153211:exon9:c.1004-1G>A;NM_001135993:exon9:c.1187-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1004-1G>A;ENST00000317571:exon9:c.1187-1G>A;ENST00000540918:exon4:c.266-1G>A;ENST00000579214:exon4:c.98-1G>A)	.	.	0.999990361384395	0.936
18	21703797	G	C	18	24123833	y	y	splicing	TTC39C(NM_153211:exon9:c.1004-1G>C;NM_001135993:exon9:c.1187-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1004-1G>C;ENST00000317571:exon9:c.1187-1G>C;ENST00000540918:exon4:c.266-1G>C;ENST00000579214:exon4:c.98-1G>C)	.	.	0.999990361384395	0.936
18	21703797	G	T	18	24123833	y	y	splicing	TTC39C(NM_153211:exon9:c.1004-1G>T;NM_001135993:exon9:c.1187-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1004-1G>T;ENST00000317571:exon9:c.1187-1G>T;ENST00000540918:exon4:c.266-1G>T;ENST00000579214:exon4:c.98-1G>T)	.	.	0.999990361384395	0.936
18	21703798	T	A	18	24123834	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.T1187A:p.V396D;TTC39C:NM_153211:exon9:c.T1004A:p.V335D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.T266A:p.V89D;ENSG00000168234:ENST00000579214:exon4:c.T98A:p.V33D;ENSG00000168234:ENST00000304621:exon9:c.T1004A:p.V335D;ENSG00000168234:ENST00000317571:exon9:c.T1187A:p.V396D;	0.0031434373051132	0.102
18	21703798	T	C	18	24123834	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.T1187C:p.V396A;TTC39C:NM_153211:exon9:c.T1004C:p.V335A;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.T266C:p.V89A;ENSG00000168234:ENST00000579214:exon4:c.T98C:p.V33A;ENSG00000168234:ENST00000304621:exon9:c.T1004C:p.V335A;ENSG00000168234:ENST00000317571:exon9:c.T1187C:p.V396A;	0.0853228490485106	0.204
18	21703798	T	G	18	24123834	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.T1187G:p.V396G;TTC39C:NM_153211:exon9:c.T1004G:p.V335G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.T266G:p.V89G;ENSG00000168234:ENST00000579214:exon4:c.T98G:p.V33G;ENSG00000168234:ENST00000304621:exon9:c.T1004G:p.V335G;ENSG00000168234:ENST00000317571:exon9:c.T1187G:p.V396G;	0.00426787769773966	0.046
18	21703799	T	A	18	24123835	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon9:c.T1188A:p.V396V;TTC39C:NM_153211:exon9:c.T1005A:p.V335V;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.T267A:p.V89V;ENSG00000168234:ENST00000579214:exon4:c.T99A:p.V33V;ENSG00000168234:ENST00000304621:exon9:c.T1005A:p.V335V;ENSG00000168234:ENST00000317571:exon9:c.T1188A:p.V396V;	2.14937020370842E-4	0.0
18	21703799	T	C	18	24123835	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon9:c.T1188C:p.V396V;TTC39C:NM_153211:exon9:c.T1005C:p.V335V;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.T267C:p.V89V;ENSG00000168234:ENST00000579214:exon4:c.T99C:p.V33V;ENSG00000168234:ENST00000304621:exon9:c.T1005C:p.V335V;ENSG00000168234:ENST00000317571:exon9:c.T1188C:p.V396V;	1.33440479629557E-4	0.004
18	21703799	T	G	18	24123835	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon9:c.T1188G:p.V396V;TTC39C:NM_153211:exon9:c.T1005G:p.V335V;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.T267G:p.V89V;ENSG00000168234:ENST00000579214:exon4:c.T99G:p.V33V;ENSG00000168234:ENST00000304621:exon9:c.T1005G:p.V335V;ENSG00000168234:ENST00000317571:exon9:c.T1188G:p.V396V;	1.75320770667671E-4	0.0
18	21703905	A	C	18	24123941	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.A1294C:p.K432Q;TTC39C:NM_153211:exon9:c.A1111C:p.K371Q;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.A373C:p.K125Q;ENSG00000168234:ENST00000304621:exon9:c.A1111C:p.K371Q;ENSG00000168234:ENST00000317571:exon9:c.A1294C:p.K432Q;	0.652856573071822	0.7
18	21703905	A	G	18	24123941	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.A1294G:p.K432E;TTC39C:NM_153211:exon9:c.A1111G:p.K371E;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.A373G:p.K125E;ENSG00000168234:ENST00000304621:exon9:c.A1111G:p.K371E;ENSG00000168234:ENST00000317571:exon9:c.A1294G:p.K432E;	0.356826713041669	0.558
18	21703905	A	T	18	24123941	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon9:c.A1294T:p.K432X;TTC39C:NM_153211:exon9:c.A1111T:p.K371X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000540918:exon4:c.A373T:p.K125X;ENSG00000168234:ENST00000304621:exon9:c.A1111T:p.K371X;ENSG00000168234:ENST00000317571:exon9:c.A1294T:p.K432X;	0.955385846762716	0.748
18	21703906	A	C	18	24123942	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.A1295C:p.K432T;TTC39C:NM_153211:exon9:c.A1112C:p.K371T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.A374C:p.K125T;ENSG00000168234:ENST00000304621:exon9:c.A1112C:p.K371T;ENSG00000168234:ENST00000317571:exon9:c.A1295C:p.K432T;	0.989359095367916	0.924
18	21703906	A	G	18	24123942	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.A1295G:p.K432R;TTC39C:NM_153211:exon9:c.A1112G:p.K371R;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.A374G:p.K125R;ENSG00000168234:ENST00000304621:exon9:c.A1112G:p.K371R;ENSG00000168234:ENST00000317571:exon9:c.A1295G:p.K432R;	0.801483037483111	0.608
18	21703906	A	T	18	24123942	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.A1295T:p.K432M;TTC39C:NM_153211:exon9:c.A1112T:p.K371M;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.A374T:p.K125M;ENSG00000168234:ENST00000304621:exon9:c.A1112T:p.K371M;ENSG00000168234:ENST00000317571:exon9:c.A1295T:p.K432M;	0.999600894189067	0.982
18	21703907	G	A	18	24123943	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon9:c.G1296A:p.K432K;TTC39C:NM_153211:exon9:c.G1113A:p.K371K;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.G375A:p.K125K;ENSG00000168234:ENST00000304621:exon9:c.G1113A:p.K371K;ENSG00000168234:ENST00000317571:exon9:c.G1296A:p.K432K;	0.999796275282478	0.978
18	21703907	G	C	18	24123943	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.G1296C:p.K432N;TTC39C:NM_153211:exon9:c.G1113C:p.K371N;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.G375C:p.K125N;ENSG00000168234:ENST00000304621:exon9:c.G1113C:p.K371N;ENSG00000168234:ENST00000317571:exon9:c.G1296C:p.K432N;	0.999984704680125	0.992
18	21703907	G	T	18	24123943	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon9:c.G1296T:p.K432N;TTC39C:NM_153211:exon9:c.G1113T:p.K371N;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon4:c.G375T:p.K125N;ENSG00000168234:ENST00000304621:exon9:c.G1113T:p.K371N;ENSG00000168234:ENST00000317571:exon9:c.G1296T:p.K432N;	0.99998113749037	0.992
18	21703908	G	A	18	24123944	y	y	splicing	TTC39C(NM_153211:exon9:c.1113+1G>A;NM_001135993:exon9:c.1296+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1113+1G>A;ENST00000317571:exon9:c.1296+1G>A;ENST00000540918:exon4:c.375+1G>A)	.	.	0.999990361384395	0.938
18	21703908	G	C	18	24123944	y	y	splicing	TTC39C(NM_153211:exon9:c.1113+1G>C;NM_001135993:exon9:c.1296+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1113+1G>C;ENST00000317571:exon9:c.1296+1G>C;ENST00000540918:exon4:c.375+1G>C)	.	.	0.999990361384395	0.938
18	21703908	G	T	18	24123944	y	y	splicing	TTC39C(NM_153211:exon9:c.1113+1G>T;NM_001135993:exon9:c.1296+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1113+1G>T;ENST00000317571:exon9:c.1296+1G>T;ENST00000540918:exon4:c.375+1G>T)	.	.	0.999990361384395	0.938
18	21703909	T	A	18	24123945	y	y	splicing	TTC39C(NM_153211:exon9:c.1113+2T>A;NM_001135993:exon9:c.1296+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1113+2T>A;ENST00000317571:exon9:c.1296+2T>A;ENST00000540918:exon4:c.375+2T>A)	.	.	0.999988247793601	0.93
18	21703909	T	C	18	24123945	y	y	splicing	TTC39C(NM_153211:exon9:c.1113+2T>C;NM_001135993:exon9:c.1296+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1113+2T>C;ENST00000317571:exon9:c.1296+2T>C;ENST00000540918:exon4:c.375+2T>C)	.	.	0.992783534660112	0.658
18	21703909	T	G	18	24123945	y	y	splicing	TTC39C(NM_153211:exon9:c.1113+2T>G;NM_001135993:exon9:c.1296+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon9:c.1113+2T>G;ENST00000317571:exon9:c.1296+2T>G;ENST00000540918:exon4:c.375+2T>G)	.	.	0.999988247793601	0.93
18	21703910	A	C	18	24123946	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.981778234095042	0.63
18	21703910	A	G	18	24123946	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.210245815820031	0.498
18	21703910	A	T	18	24123946	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.901422749657861	0.422
18	21703911	T	A	18	24123947	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.09511898573156E-5	0.022
18	21703911	T	C	18	24123947	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.49182574509681E-5	0.024
18	21703911	T	G	18	24123947	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.38494855681957E-5	0.012
18	21703912	G	A	18	24123948	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.986122177064798	0.578
18	21703912	G	C	18	24123948	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.974028350047096	0.742
18	21703912	G	T	18	24123948	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.983924140932277	0.72
18	21703913	T	A	18	24123949	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00540923004424318	0.256
18	21703913	T	C	18	24123949	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0150516116962044	0.244
18	21703913	T	G	18	24123949	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00311338686211934	0.162
18	21703914	T	A	18	24123950	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.52960061164823E-4	0.01
18	21703914	T	C	18	24123950	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.87492138430343E-4	0.018
18	21703914	T	G	18	24123950	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.87492138430343E-4	0.018
18	21703915	G	A	18	24123951	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.00230545466737E-4	0.046
18	21703915	G	C	18	24123951	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.00230545466737E-4	0.048
18	21703915	G	T	18	24123951	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.00230545466737E-4	0.044
18	21705379	G	A	18	24125415	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.52029201264696E-5	0.03
18	21705379	G	C	18	24125415	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.8917931190308E-6	0.0
18	21705379	G	T	18	24125415	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.6094266613394E-5	0.0
18	21705380	A	C	18	24125416	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.19864726844503E-4	0.002
18	21705380	A	G	18	24125416	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.55194397649716E-4	0.018
18	21705380	A	T	18	24125416	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00148731088019501	0.05
18	21705381	C	A	18	24125417	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.03506519203539E-4	0.04
18	21705381	C	G	18	24125417	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.998281159783206	0.986
18	21705381	C	T	18	24125417	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.14702407258639E-5	0.0
18	21705382	T	A	18	24125418	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0236126623166753	0.188
18	21705382	T	C	18	24125418	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.55294787709533E-5	0.002
18	21705382	T	G	18	24125418	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00526178332894163	0.17
18	21705383	C	A	18	24125419	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.27848164712058E-4	0.052
18	21705383	C	G	18	24125419	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.8994448834024E-5	0.078
18	21705383	C	T	18	24125419	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.12950335223296E-5	0.0
18	21705384	C	A	18	24125420	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.034376640536042	0.274
18	21705384	C	G	18	24125420	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0516665351353306	0.332
18	21705384	C	T	18	24125420	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.61368793939042E-4	0.056
18	21705385	T	A	18	24125421	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.513509432038031	0.444
18	21705385	T	C	18	24125421	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.54528085463953E-4	0.032
18	21705385	T	G	18	24125421	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.456205675633489	0.482
18	21705386	T	A	18	24125422	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.998859955066264	0.836
18	21705386	T	C	18	24125422	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.63072758841657E-4	0.012
18	21705386	T	G	18	24125422	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.207661447030519	0.444
18	21705387	G	A	18	24125423	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.45220802638461E-5	0.0
18	21705387	G	C	18	24125423	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.39475399479846E-6	0.004
18	21705387	G	T	18	24125423	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.19588678619042E-5	0.0
18	21705388	C	A	18	24125424	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.785563260205841	0.59
18	21705388	C	G	18	24125424	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999555536948409	0.93
18	21705388	C	T	18	24125424	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00130461373646179	0.058
18	21705389	A	C	18	24125425	y	y	splicing	TTC39C(NM_153211:exon10:c.1114-2A>C;NM_001135993:exon10:c.1297-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1114-2A>C;ENST00000317571:exon10:c.1297-2A>C;ENST00000540918:exon5:c.376-2A>C)	.	.	0.999992446697775	0.93
18	21705389	A	G	18	24125425	y	y	splicing	TTC39C(NM_153211:exon10:c.1114-2A>G;NM_001135993:exon10:c.1297-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1114-2A>G;ENST00000317571:exon10:c.1297-2A>G;ENST00000540918:exon5:c.376-2A>G)	.	.	0.999992446697775	0.93
18	21705389	A	T	18	24125425	y	y	splicing	TTC39C(NM_153211:exon10:c.1114-2A>T;NM_001135993:exon10:c.1297-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1114-2A>T;ENST00000317571:exon10:c.1297-2A>T;ENST00000540918:exon5:c.376-2A>T)	.	.	0.999992446697775	0.93
18	21705390	G	A	18	24125426	y	y	splicing	TTC39C(NM_153211:exon10:c.1114-1G>A;NM_001135993:exon10:c.1297-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1114-1G>A;ENST00000317571:exon10:c.1297-1G>A;ENST00000540918:exon5:c.376-1G>A)	.	.	0.999990361384395	0.926
18	21705390	G	C	18	24125426	y	y	splicing	TTC39C(NM_153211:exon10:c.1114-1G>C;NM_001135993:exon10:c.1297-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1114-1G>C;ENST00000317571:exon10:c.1297-1G>C;ENST00000540918:exon5:c.376-1G>C)	.	.	0.999990361384395	0.926
18	21705390	G	T	18	24125426	y	y	splicing	TTC39C(NM_153211:exon10:c.1114-1G>T;NM_001135993:exon10:c.1297-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1114-1G>T;ENST00000317571:exon10:c.1297-1G>T;ENST00000540918:exon5:c.376-1G>T)	.	.	0.999990361384395	0.926
18	21705391	G	A	18	24125427	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.G1297A:p.A433T;TTC39C:NM_153211:exon10:c.G1114A:p.A372T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.G376A:p.A126T;ENSG00000168234:ENST00000304621:exon10:c.G1114A:p.A372T;ENSG00000168234:ENST00000317571:exon10:c.G1297A:p.A433T;	0.997471647754736	0.722
18	21705391	G	C	18	24125427	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.G1297C:p.A433P;TTC39C:NM_153211:exon10:c.G1114C:p.A372P;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.G376C:p.A126P;ENSG00000168234:ENST00000304621:exon10:c.G1114C:p.A372P;ENSG00000168234:ENST00000317571:exon10:c.G1297C:p.A433P;	0.999314046655009	0.892
18	21705391	G	T	18	24125427	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.G1297T:p.A433S;TTC39C:NM_153211:exon10:c.G1114T:p.A372S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.G376T:p.A126S;ENSG00000168234:ENST00000304621:exon10:c.G1114T:p.A372S;ENSG00000168234:ENST00000317571:exon10:c.G1297T:p.A433S;	0.999573396522752	0.938
18	21705392	C	A	18	24125428	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.C1298A:p.A433E;TTC39C:NM_153211:exon10:c.C1115A:p.A372E;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.C377A:p.A126E;ENSG00000168234:ENST00000304621:exon10:c.C1115A:p.A372E;ENSG00000168234:ENST00000317571:exon10:c.C1298A:p.A433E;	0.987003890103656	0.764
18	21705392	C	G	18	24125428	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.C1298G:p.A433G;TTC39C:NM_153211:exon10:c.C1115G:p.A372G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.C377G:p.A126G;ENSG00000168234:ENST00000304621:exon10:c.C1115G:p.A372G;ENSG00000168234:ENST00000317571:exon10:c.C1298G:p.A433G;	0.976129941830059	0.626
18	21705392	C	T	18	24125428	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.C1298T:p.A433V;TTC39C:NM_153211:exon10:c.C1115T:p.A372V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.C377T:p.A126V;ENSG00000168234:ENST00000304621:exon10:c.C1115T:p.A372V;ENSG00000168234:ENST00000317571:exon10:c.C1298T:p.A433V;	0.953297366059943	0.698
18	21705512	A	C	18	24125548	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.A1418C:p.Q473P;TTC39C:NM_153211:exon10:c.A1235C:p.Q412P;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.A497C:p.Q166P;ENSG00000168234:ENST00000304621:exon10:c.A1235C:p.Q412P;ENSG00000168234:ENST00000317571:exon10:c.A1418C:p.Q473P;	0.871751569182031	0.55
18	21705512	A	G	18	24125548	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.A1418G:p.Q473R;TTC39C:NM_153211:exon10:c.A1235G:p.Q412R;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.A497G:p.Q166R;ENSG00000168234:ENST00000304621:exon10:c.A1235G:p.Q412R;ENSG00000168234:ENST00000317571:exon10:c.A1418G:p.Q473R;	0.105615897443612	0.386
18	21705512	A	T	18	24125548	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.A1418T:p.Q473L;TTC39C:NM_153211:exon10:c.A1235T:p.Q412L;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.A497T:p.Q166L;ENSG00000168234:ENST00000304621:exon10:c.A1235T:p.Q412L;ENSG00000168234:ENST00000317571:exon10:c.A1418T:p.Q473L;	0.995998242148494	0.706
18	21705513	A	C	18	24125549	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.A1419C:p.Q473H;TTC39C:NM_153211:exon10:c.A1236C:p.Q412H;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.A498C:p.Q166H;ENSG00000168234:ENST00000304621:exon10:c.A1236C:p.Q412H;ENSG00000168234:ENST00000317571:exon10:c.A1419C:p.Q473H;	0.957011715876112	0.638
18	21705513	A	G	18	24125549	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon10:c.A1419G:p.Q473Q;TTC39C:NM_153211:exon10:c.A1236G:p.Q412Q;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.A498G:p.Q166Q;ENSG00000168234:ENST00000304621:exon10:c.A1236G:p.Q412Q;ENSG00000168234:ENST00000317571:exon10:c.A1419G:p.Q473Q;	0.987112282475423	0.782
18	21705513	A	T	18	24125549	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.A1419T:p.Q473H;TTC39C:NM_153211:exon10:c.A1236T:p.Q412H;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.A498T:p.Q166H;ENSG00000168234:ENST00000304621:exon10:c.A1236T:p.Q412H;ENSG00000168234:ENST00000317571:exon10:c.A1419T:p.Q473H;	0.998613462968081	0.852
18	21705514	G	A	18	24125550	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.G1420A:p.A474T;TTC39C:NM_153211:exon10:c.G1237A:p.A413T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.G499A:p.A167T;ENSG00000168234:ENST00000304621:exon10:c.G1237A:p.A413T;ENSG00000168234:ENST00000317571:exon10:c.G1420A:p.A474T;	0.999993449494972	1.0
18	21705514	G	C	18	24125550	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.G1420C:p.A474P;TTC39C:NM_153211:exon10:c.G1237C:p.A413P;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.G499C:p.A167P;ENSG00000168234:ENST00000304621:exon10:c.G1237C:p.A413P;ENSG00000168234:ENST00000317571:exon10:c.G1420C:p.A474P;	0.999997871243653	0.992
18	21705514	G	T	18	24125550	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon10:c.G1420T:p.A474S;TTC39C:NM_153211:exon10:c.G1237T:p.A413S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon5:c.G499T:p.A167S;ENSG00000168234:ENST00000304621:exon10:c.G1237T:p.A413S;ENSG00000168234:ENST00000317571:exon10:c.G1420T:p.A474S;	0.999988779970682	0.996
18	21705515	G	A	18	24125551	y	y	splicing	TTC39C(NM_153211:exon10:c.1237+1G>A;NM_001135993:exon10:c.1420+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1237+1G>A;ENST00000317571:exon10:c.1420+1G>A;ENST00000540918:exon5:c.499+1G>A)	.	.	0.999989072007339	0.934
18	21705515	G	C	18	24125551	y	y	splicing	TTC39C(NM_153211:exon10:c.1237+1G>C;NM_001135993:exon10:c.1420+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1237+1G>C;ENST00000317571:exon10:c.1420+1G>C;ENST00000540918:exon5:c.499+1G>C)	.	.	0.999989072007339	0.934
18	21705515	G	T	18	24125551	y	y	splicing	TTC39C(NM_153211:exon10:c.1237+1G>T;NM_001135993:exon10:c.1420+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1237+1G>T;ENST00000317571:exon10:c.1420+1G>T;ENST00000540918:exon5:c.499+1G>T)	.	.	0.999989072007339	0.934
18	21705516	T	A	18	24125552	y	y	splicing	TTC39C(NM_153211:exon10:c.1237+2T>A;NM_001135993:exon10:c.1420+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1237+2T>A;ENST00000317571:exon10:c.1420+2T>A;ENST00000540918:exon5:c.499+2T>A)	.	.	0.999988247793601	0.93
18	21705516	T	C	18	24125552	y	y	splicing	TTC39C(NM_153211:exon10:c.1237+2T>C;NM_001135993:exon10:c.1420+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1237+2T>C;ENST00000317571:exon10:c.1420+2T>C;ENST00000540918:exon5:c.499+2T>C)	.	.	0.995742002996631	0.692
18	21705516	T	G	18	24125552	y	y	splicing	TTC39C(NM_153211:exon10:c.1237+2T>G;NM_001135993:exon10:c.1420+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon10:c.1237+2T>G;ENST00000317571:exon10:c.1420+2T>G;ENST00000540918:exon5:c.499+2T>G)	.	.	0.999988247793601	0.928
18	21705517	A	C	18	24125553	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999942888012906	0.978
18	21705517	A	G	18	24125553	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.990358875959693	0.848
18	21705517	A	T	18	24125553	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999815806774437	0.906
18	21705518	A	C	18	24125554	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.900419826008872	0.588
18	21705518	A	G	18	24125554	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.893124149121222	0.628
18	21705518	A	T	18	24125554	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.920654948356878	0.644
18	21705519	A	C	18	24125555	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.99805782255764E-4	0.028
18	21705519	A	G	18	24125555	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.41834484514404E-4	0.116
18	21705519	A	T	18	24125555	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.25951207676811E-4	0.006
18	21705520	A	C	18	24125556	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.56933846428696E-4	0.016
18	21705520	A	G	18	24125556	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.71249707806494E-5	0.0
18	21705520	A	T	18	24125556	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.21670231868576E-5	0.008
18	21705521	A	C	18	24125557	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.24450295635078E-5	0.0
18	21705521	A	G	18	24125557	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.78890319855431E-5	0.002
18	21705521	A	T	18	24125557	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.11647364051884E-4	0.006
18	21705522	A	C	18	24125558	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.34050147365E-4	0.006
18	21705522	A	G	18	24125558	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.11696282627711E-4	0.006
18	21705522	A	T	18	24125558	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.11696282627711E-4	0.002
18	21708838	C	A	18	24128874	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.194334703706405	0.15
18	21708838	C	G	18	24128874	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.095791901438376	0.182
18	21708838	C	T	18	24128874	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0367415346837504	0.244
18	21708839	T	A	18	24128875	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0197791138775118	0.382
18	21708839	T	C	18	24128875	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00208832342597281	0.212
18	21708839	T	G	18	24128875	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0184841031626944	0.358
18	21708840	T	A	18	24128876	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0632863622849775	0.326
18	21708840	T	C	18	24128876	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00256667970189922	0.112
18	21708840	T	G	18	24128876	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0200790958999537	0.212
18	21708841	C	A	18	24128877	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0250626346425728	0.128
18	21708841	C	G	18	24128877	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0159472532241135	0.132
18	21708841	C	T	18	24128877	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00114501647727062	0.064
18	21708842	T	A	18	24128878	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0190178795160147	0.108
18	21708842	T	C	18	24128878	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.76821411917909E-4	0.002
18	21708842	T	G	18	24128878	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0156823922910133	0.102
18	21708843	T	A	18	24128879	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00217072115662114	0.06
18	21708843	T	C	18	24128879	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.87672202438602E-4	0.072
18	21708843	T	G	18	24128879	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00894606040185087	0.088
18	21708844	T	A	18	24128880	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.60214594942915E-4	0.14
18	21708844	T	C	18	24128880	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.42079972535248E-4	0.048
18	21708844	T	G	18	24128880	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.60214594942915E-4	0.128
18	21708845	T	A	18	24128881	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0221236304055617	0.338
18	21708845	T	C	18	24128881	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0017512877600319	0.048
18	21708845	T	G	18	24128881	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0531584418003725	0.352
18	21708846	T	A	18	24128882	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.76055316571353E-5	0.0
18	21708846	T	C	18	24128882	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.0960775384756E-5	0.044
18	21708846	T	G	18	24128882	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.91962752442565E-5	0.086
18	21708847	A	C	18	24128883	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.83183770512036E-5	0.08
18	21708847	A	G	18	24128883	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00759501290584848	0.354
18	21708847	A	T	18	24128883	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.32469513448071E-5	0.004
18	21708848	A	C	18	24128884	y	y	splicing	TTC39C(NM_153211:exon11:c.1238-2A>C;NM_001135993:exon11:c.1421-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1238-2A>C;ENST00000317571:exon11:c.1421-2A>C;ENST00000540918:exon6:c.500-2A>C)	.	.	0.999978952611685	0.926
18	21708848	A	G	18	24128884	y	y	splicing	TTC39C(NM_153211:exon11:c.1238-2A>G;NM_001135993:exon11:c.1421-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1238-2A>G;ENST00000317571:exon11:c.1421-2A>G;ENST00000540918:exon6:c.500-2A>G)	.	.	0.999978952611685	0.926
18	21708848	A	T	18	24128884	y	y	splicing	TTC39C(NM_153211:exon11:c.1238-2A>T;NM_001135993:exon11:c.1421-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1238-2A>T;ENST00000317571:exon11:c.1421-2A>T;ENST00000540918:exon6:c.500-2A>T)	.	.	0.999988247793601	0.924
18	21708849	G	A	18	24128885	y	y	splicing	TTC39C(NM_153211:exon11:c.1238-1G>A;NM_001135993:exon11:c.1421-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1238-1G>A;ENST00000317571:exon11:c.1421-1G>A;ENST00000540918:exon6:c.500-1G>A)	.	.	0.999990361384395	0.934
18	21708849	G	C	18	24128885	y	y	splicing	TTC39C(NM_153211:exon11:c.1238-1G>C;NM_001135993:exon11:c.1421-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1238-1G>C;ENST00000317571:exon11:c.1421-1G>C;ENST00000540918:exon6:c.500-1G>C)	.	.	0.999990361384395	0.926
18	21708849	G	T	18	24128885	y	y	splicing	TTC39C(NM_153211:exon11:c.1238-1G>T;NM_001135993:exon11:c.1421-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1238-1G>T;ENST00000317571:exon11:c.1421-1G>T;ENST00000540918:exon6:c.500-1G>T)	.	.	0.999990361384395	0.934
18	21708850	C	A	18	24128886	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.C1421A:p.A474D;TTC39C:NM_153211:exon11:c.C1238A:p.A413D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.C500A:p.A167D;ENSG00000168234:ENST00000304621:exon11:c.C1238A:p.A413D;ENSG00000168234:ENST00000317571:exon11:c.C1421A:p.A474D;	0.00168467218577344	0.038
18	21708850	C	G	18	24128886	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.C1421G:p.A474G;TTC39C:NM_153211:exon11:c.C1238G:p.A413G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.C500G:p.A167G;ENSG00000168234:ENST00000304621:exon11:c.C1238G:p.A413G;ENSG00000168234:ENST00000317571:exon11:c.C1421G:p.A474G;	0.00330521716669721	0.078
18	21708850	C	T	18	24128886	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.C1421T:p.A474V;TTC39C:NM_153211:exon11:c.C1238T:p.A413V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.C500T:p.A167V;ENSG00000168234:ENST00000304621:exon11:c.C1238T:p.A413V;ENSG00000168234:ENST00000317571:exon11:c.C1421T:p.A474V;	0.873142240339887	0.566
18	21708851	T	A	18	24128887	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon11:c.T1422A:p.A474A;TTC39C:NM_153211:exon11:c.T1239A:p.A413A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.T501A:p.A167A;ENSG00000168234:ENST00000304621:exon11:c.T1239A:p.A413A;ENSG00000168234:ENST00000317571:exon11:c.T1422A:p.A474A;	0.00188447581970496	0.162
18	21708851	T	C	18	24128887	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon11:c.T1422C:p.A474A;TTC39C:NM_153211:exon11:c.T1239C:p.A413A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.T501C:p.A167A;ENSG00000168234:ENST00000304621:exon11:c.T1239C:p.A413A;ENSG00000168234:ENST00000317571:exon11:c.T1422C:p.A474A;	0.00392323981771781	0.18
18	21708851	T	G	18	24128887	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon11:c.T1422G:p.A474A;TTC39C:NM_153211:exon11:c.T1239G:p.A413A;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.T501G:p.A167A;ENSG00000168234:ENST00000304621:exon11:c.T1239G:p.A413A;ENSG00000168234:ENST00000317571:exon11:c.T1422G:p.A474A;	6.71682174885992E-4	0.094
18	21708945	C	A	18	24128981	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.C1516A:p.Q506K;TTC39C:NM_153211:exon11:c.C1333A:p.Q445K;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.C595A:p.Q199K;ENSG00000168234:ENST00000304621:exon11:c.C1333A:p.Q445K;ENSG00000168234:ENST00000317571:exon11:c.C1516A:p.Q506K;	0.00459452219315214	0.138
18	21708945	C	G	18	24128981	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.C1516G:p.Q506E;TTC39C:NM_153211:exon11:c.C1333G:p.Q445E;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.C595G:p.Q199E;ENSG00000168234:ENST00000304621:exon11:c.C1333G:p.Q445E;ENSG00000168234:ENST00000317571:exon11:c.C1516G:p.Q506E;	0.00806086134551915	0.102
18	21708945	C	T	18	24128981	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon11:c.C1516T:p.Q506X;TTC39C:NM_153211:exon11:c.C1333T:p.Q445X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000540918:exon6:c.C595T:p.Q199X;ENSG00000168234:ENST00000304621:exon11:c.C1333T:p.Q445X;ENSG00000168234:ENST00000317571:exon11:c.C1516T:p.Q506X;	0.994775898398699	0.894
18	21708946	A	C	18	24128982	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.A1517C:p.Q506P;TTC39C:NM_153211:exon11:c.A1334C:p.Q445P;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.A596C:p.Q199P;ENSG00000168234:ENST00000304621:exon11:c.A1334C:p.Q445P;ENSG00000168234:ENST00000317571:exon11:c.A1517C:p.Q506P;	0.999845410348459	0.998
18	21708946	A	G	18	24128982	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.A1517G:p.Q506R;TTC39C:NM_153211:exon11:c.A1334G:p.Q445R;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.A596G:p.Q199R;ENSG00000168234:ENST00000304621:exon11:c.A1334G:p.Q445R;ENSG00000168234:ENST00000317571:exon11:c.A1517G:p.Q506R;	0.999855880858153	0.996
18	21708946	A	T	18	24128982	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.A1517T:p.Q506L;TTC39C:NM_153211:exon11:c.A1334T:p.Q445L;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.A596T:p.Q199L;ENSG00000168234:ENST00000304621:exon11:c.A1334T:p.Q445L;ENSG00000168234:ENST00000317571:exon11:c.A1517T:p.Q506L;	0.999938151101861	0.998
18	21708947	G	A	18	24128983	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon11:c.G1518A:p.Q506Q;TTC39C:NM_153211:exon11:c.G1335A:p.Q445Q;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.G597A:p.Q199Q;ENSG00000168234:ENST00000304621:exon11:c.G1335A:p.Q445Q;ENSG00000168234:ENST00000317571:exon11:c.G1518A:p.Q506Q;	0.999949981910527	1.0
18	21708947	G	C	18	24128983	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.G1518C:p.Q506H;TTC39C:NM_153211:exon11:c.G1335C:p.Q445H;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.G597C:p.Q199H;ENSG00000168234:ENST00000304621:exon11:c.G1335C:p.Q445H;ENSG00000168234:ENST00000317571:exon11:c.G1518C:p.Q506H;	0.999998122414291	1.0
18	21708947	G	T	18	24128983	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon11:c.G1518T:p.Q506H;TTC39C:NM_153211:exon11:c.G1335T:p.Q445H;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon6:c.G597T:p.Q199H;ENSG00000168234:ENST00000304621:exon11:c.G1335T:p.Q445H;ENSG00000168234:ENST00000317571:exon11:c.G1518T:p.Q506H;	0.999993018555097	1.0
18	21708948	G	A	18	24128984	y	y	splicing	TTC39C(NM_153211:exon11:c.1335+1G>A;NM_001135993:exon11:c.1518+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1335+1G>A;ENST00000317571:exon11:c.1518+1G>A;ENST00000540918:exon6:c.597+1G>A)	.	.	0.999990361384395	0.938
18	21708948	G	C	18	24128984	y	y	splicing	TTC39C(NM_153211:exon11:c.1335+1G>C;NM_001135993:exon11:c.1518+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1335+1G>C;ENST00000317571:exon11:c.1518+1G>C;ENST00000540918:exon6:c.597+1G>C)	.	.	0.999990361384395	0.936
18	21708948	G	T	18	24128984	y	y	splicing	TTC39C(NM_153211:exon11:c.1335+1G>T;NM_001135993:exon11:c.1518+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1335+1G>T;ENST00000317571:exon11:c.1518+1G>T;ENST00000540918:exon6:c.597+1G>T)	.	.	0.999990361384395	0.936
18	21708949	T	A	18	24128985	y	y	splicing	TTC39C(NM_153211:exon11:c.1335+2T>A;NM_001135993:exon11:c.1518+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1335+2T>A;ENST00000317571:exon11:c.1518+2T>A;ENST00000540918:exon6:c.597+2T>A)	.	.	0.999988247793601	0.928
18	21708949	T	C	18	24128985	y	y	splicing	TTC39C(NM_153211:exon11:c.1335+2T>C;NM_001135993:exon11:c.1518+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1335+2T>C;ENST00000317571:exon11:c.1518+2T>C;ENST00000540918:exon6:c.597+2T>C)	.	.	0.98918007292081	0.668
18	21708949	T	G	18	24128985	y	y	splicing	TTC39C(NM_153211:exon11:c.1335+2T>G;NM_001135993:exon11:c.1518+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon11:c.1335+2T>G;ENST00000317571:exon11:c.1518+2T>G;ENST00000540918:exon6:c.597+2T>G)	.	.	0.999988247793601	0.928
18	21708950	A	C	18	24128986	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999883747710356	0.952
18	21708950	A	G	18	24128986	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.958025536315625	0.732
18	21708950	A	T	18	24128986	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999928737089092	0.976
18	21708951	A	C	18	24128987	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0554305202992074	0.304
18	21708951	A	G	18	24128987	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.184043307354789	0.364
18	21708951	A	T	18	24128987	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.23565958134192	0.412
18	21708952	A	C	18	24128988	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.69462282945429E-4	0.012
18	21708952	A	G	18	24128988	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.63003504225124E-5	0.002
18	21708952	A	T	18	24128988	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.85355516917754E-4	0.006
18	21708953	C	A	18	24128989	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.03214243801565E-5	0.0
18	21708953	C	G	18	24128989	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.34656390907296E-5	0.004
18	21708953	C	T	18	24128989	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.18434825656509E-5	0.002
18	21708954	T	A	18	24128990	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.96323034491673E-5	0.0
18	21708954	T	C	18	24128990	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.96323034491673E-5	0.0
18	21708954	T	G	18	24128990	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.96323034491673E-5	0.0
18	21708955	G	A	18	24128991	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00589478890214545	0.032
18	21708955	G	C	18	24128991	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00587697872525267	0.082
18	21708955	G	T	18	24128991	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0062289788333154	0.052
18	21710265	C	A	18	24130301	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.01380070084428E-4	0.058
18	21710265	C	G	18	24130301	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.8466907553202E-4	0.094
18	21710265	C	T	18	24130301	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.9943639033818E-5	0.002
18	21710266	A	C	18	24130302	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.46746292608218E-5	0.0
18	21710266	A	G	18	24130302	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.48833089696253E-5	0.004
18	21710266	A	T	18	24130302	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.25750261289099E-4	0.094
18	21710267	T	A	18	24130303	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.996261536481146	0.884
18	21710267	T	C	18	24130303	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.778147484156412	0.518
18	21710267	T	G	18	24130303	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99992572642545	0.962
18	21710268	T	A	18	24130304	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.915769734045456	0.834
18	21710268	T	C	18	24130304	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00374917242840819	0.066
18	21710268	T	G	18	24130304	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.746660035248197	0.702
18	21710269	C	A	18	24130305	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.58705896345866E-4	0.032
18	21710269	C	G	18	24130305	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.63043257735987E-4	0.03
18	21710269	C	T	18	24130305	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.499467469867E-5	0.0
18	21710270	C	A	18	24130306	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.38060953486223E-4	0.014
18	21710270	C	G	18	24130306	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.38060953486223E-4	0.012
18	21710270	C	T	18	24130306	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.71188929474458E-5	0.0
18	21710271	T	A	18	24130307	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.372640662915226	0.494
18	21710271	T	C	18	24130307	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	7.10133400872646E-4	0.068
18	21710271	T	G	18	24130307	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.903209937920777	0.596
18	21710272	T	A	18	24130308	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.764816824589833	0.522
18	21710272	T	C	18	24130308	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0610474301514158	0.298
18	21710272	T	G	18	24130308	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.901934953706811	0.57
18	21710273	T	A	18	24130309	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.70383993541352E-5	0.004
18	21710273	T	C	18	24130309	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.02311944011217E-4	0.002
18	21710273	T	G	18	24130309	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.44300394328967E-4	0.052
18	21710274	C	A	18	24130310	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.971921626102022	0.68
18	21710274	C	G	18	24130310	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999889304296383	0.888
18	21710274	C	T	18	24130310	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00803502004551278	0.066
18	21710275	A	C	18	24130311	y	y	splicing	TTC39C(NM_153211:exon12:c.1336-2A>C;NM_001135993:exon12:c.1519-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1336-2A>C;ENST00000317571:exon12:c.1519-2A>C;ENST00000540918:exon7:c.598-2A>C)	.	.	0.999990764389106	0.938
18	21710275	A	G	18	24130311	y	y	splicing	TTC39C(NM_153211:exon12:c.1336-2A>G;NM_001135993:exon12:c.1519-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1336-2A>G;ENST00000317571:exon12:c.1519-2A>G;ENST00000540918:exon7:c.598-2A>G)	.	.	0.999990764389106	0.938
18	21710275	A	T	18	24130311	y	y	splicing	TTC39C(NM_153211:exon12:c.1336-2A>T;NM_001135993:exon12:c.1519-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1336-2A>T;ENST00000317571:exon12:c.1519-2A>T;ENST00000540918:exon7:c.598-2A>T)	.	.	0.999990764389106	0.896
18	21710276	G	A	18	24130312	y	y	splicing	TTC39C(NM_153211:exon12:c.1336-1G>A;NM_001135993:exon12:c.1519-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1336-1G>A;ENST00000317571:exon12:c.1519-1G>A;ENST00000540918:exon7:c.598-1G>A)	.	.	0.999992425382947	0.944
18	21710276	G	C	18	24130312	y	y	splicing	TTC39C(NM_153211:exon12:c.1336-1G>C;NM_001135993:exon12:c.1519-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1336-1G>C;ENST00000317571:exon12:c.1519-1G>C;ENST00000540918:exon7:c.598-1G>C)	.	.	0.999992425382947	0.944
18	21710276	G	T	18	24130312	y	y	splicing	TTC39C(NM_153211:exon12:c.1336-1G>T;NM_001135993:exon12:c.1519-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1336-1G>T;ENST00000317571:exon12:c.1519-1G>T;ENST00000540918:exon7:c.598-1G>T)	.	.	0.999992425382947	0.944
18	21710277	T	A	18	24130313	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.T1519A:p.Y507N;TTC39C:NM_153211:exon12:c.T1336A:p.Y446N;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.T598A:p.Y200N;ENSG00000168234:ENST00000304621:exon12:c.T1336A:p.Y446N;ENSG00000168234:ENST00000317571:exon12:c.T1519A:p.Y507N;	0.00222557416558236	0.034
18	21710277	T	C	18	24130313	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.T1519C:p.Y507H;TTC39C:NM_153211:exon12:c.T1336C:p.Y446H;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.T598C:p.Y200H;ENSG00000168234:ENST00000304621:exon12:c.T1336C:p.Y446H;ENSG00000168234:ENST00000317571:exon12:c.T1519C:p.Y507H;	0.00976583822166125	0.072
18	21710277	T	G	18	24130313	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.T1519G:p.Y507D;TTC39C:NM_153211:exon12:c.T1336G:p.Y446D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.T598G:p.Y200D;ENSG00000168234:ENST00000304621:exon12:c.T1336G:p.Y446D;ENSG00000168234:ENST00000317571:exon12:c.T1519G:p.Y507D;	0.0042557719464495	0.11
18	21710278	A	C	18	24130314	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.A1520C:p.Y507S;TTC39C:NM_153211:exon12:c.A1337C:p.Y446S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.A599C:p.Y200S;ENSG00000168234:ENST00000304621:exon12:c.A1337C:p.Y446S;ENSG00000168234:ENST00000317571:exon12:c.A1520C:p.Y507S;	3.11674536669717E-5	0.002
18	21710278	A	G	18	24130314	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.A1520G:p.Y507C;TTC39C:NM_153211:exon12:c.A1337G:p.Y446C;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.A599G:p.Y200C;ENSG00000168234:ENST00000304621:exon12:c.A1337G:p.Y446C;ENSG00000168234:ENST00000317571:exon12:c.A1520G:p.Y507C;	2.94924655307484E-5	0.01
18	21710278	A	T	18	24130314	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.A1520T:p.Y507F;TTC39C:NM_153211:exon12:c.A1337T:p.Y446F;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.A599T:p.Y200F;ENSG00000168234:ENST00000304621:exon12:c.A1337T:p.Y446F;ENSG00000168234:ENST00000317571:exon12:c.A1520T:p.Y507F;	5.88937297401268E-6	0.002
18	21710379	G	A	18	24130415	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.G1621A:p.E541K;TTC39C:NM_153211:exon12:c.G1438A:p.E480K;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.G700A:p.E234K;ENSG00000168234:ENST00000304621:exon12:c.G1438A:p.E480K;ENSG00000168234:ENST00000317571:exon12:c.G1621A:p.E541K;	0.967728554890554	0.77
18	21710379	G	C	18	24130415	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.G1621C:p.E541Q;TTC39C:NM_153211:exon12:c.G1438C:p.E480Q;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.G700C:p.E234Q;ENSG00000168234:ENST00000304621:exon12:c.G1438C:p.E480Q;ENSG00000168234:ENST00000317571:exon12:c.G1621C:p.E541Q;	0.865144230728627	0.634
18	21710379	G	T	18	24130415	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon12:c.G1621T:p.E541X;TTC39C:NM_153211:exon12:c.G1438T:p.E480X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000540918:exon7:c.G700T:p.E234X;ENSG00000168234:ENST00000304621:exon12:c.G1438T:p.E480X;ENSG00000168234:ENST00000317571:exon12:c.G1621T:p.E541X;	0.990390966944262	0.88
18	21710380	A	C	18	24130416	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.A1622C:p.E541A;TTC39C:NM_153211:exon12:c.A1439C:p.E480A;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.A701C:p.E234A;ENSG00000168234:ENST00000304621:exon12:c.A1439C:p.E480A;ENSG00000168234:ENST00000317571:exon12:c.A1622C:p.E541A;	0.989828453155165	0.888
18	21710380	A	G	18	24130416	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.A1622G:p.E541G;TTC39C:NM_153211:exon12:c.A1439G:p.E480G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.A701G:p.E234G;ENSG00000168234:ENST00000304621:exon12:c.A1439G:p.E480G;ENSG00000168234:ENST00000317571:exon12:c.A1622G:p.E541G;	0.996237250354234	0.91
18	21710380	A	T	18	24130416	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.A1622T:p.E541V;TTC39C:NM_153211:exon12:c.A1439T:p.E480V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.A701T:p.E234V;ENSG00000168234:ENST00000304621:exon12:c.A1439T:p.E480V;ENSG00000168234:ENST00000317571:exon12:c.A1622T:p.E541V;	0.991770395068455	0.836
18	21710381	G	A	18	24130417	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon12:c.G1623A:p.E541E;TTC39C:NM_153211:exon12:c.G1440A:p.E480E;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.G702A:p.E234E;ENSG00000168234:ENST00000304621:exon12:c.G1440A:p.E480E;ENSG00000168234:ENST00000317571:exon12:c.G1623A:p.E541E;	0.9998787152721	0.98
18	21710381	G	C	18	24130417	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.G1623C:p.E541D;TTC39C:NM_153211:exon12:c.G1440C:p.E480D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.G702C:p.E234D;ENSG00000168234:ENST00000304621:exon12:c.G1440C:p.E480D;ENSG00000168234:ENST00000317571:exon12:c.G1623C:p.E541D;	0.999972378126966	0.938
18	21710381	G	T	18	24130417	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon12:c.G1623T:p.E541D;TTC39C:NM_153211:exon12:c.G1440T:p.E480D;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon7:c.G702T:p.E234D;ENSG00000168234:ENST00000304621:exon12:c.G1440T:p.E480D;ENSG00000168234:ENST00000317571:exon12:c.G1623T:p.E541D;	0.999931472623855	0.984
18	21710382	G	A	18	24130418	y	y	splicing	TTC39C(NM_153211:exon12:c.1440+1G>A;NM_001135993:exon12:c.1623+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1440+1G>A;ENST00000317571:exon12:c.1623+1G>A;ENST00000540918:exon7:c.702+1G>A)	.	.	0.999990361384395	0.938
18	21710382	G	C	18	24130418	y	y	splicing	TTC39C(NM_153211:exon12:c.1440+1G>C;NM_001135993:exon12:c.1623+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1440+1G>C;ENST00000317571:exon12:c.1623+1G>C;ENST00000540918:exon7:c.702+1G>C)	.	.	0.999990361384395	0.938
18	21710382	G	T	18	24130418	y	y	splicing	TTC39C(NM_153211:exon12:c.1440+1G>T;NM_001135993:exon12:c.1623+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1440+1G>T;ENST00000317571:exon12:c.1623+1G>T;ENST00000540918:exon7:c.702+1G>T)	.	.	0.999990361384395	0.938
18	21710383	T	A	18	24130419	y	y	splicing	TTC39C(NM_153211:exon12:c.1440+2T>A;NM_001135993:exon12:c.1623+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1440+2T>A;ENST00000317571:exon12:c.1623+2T>A;ENST00000540918:exon7:c.702+2T>A)	.	.	0.999988247793601	0.93
18	21710383	T	C	18	24130419	y	y	splicing	TTC39C(NM_153211:exon12:c.1440+2T>C;NM_001135993:exon12:c.1623+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1440+2T>C;ENST00000317571:exon12:c.1623+2T>C;ENST00000540918:exon7:c.702+2T>C)	.	.	0.996388929962285	0.694
18	21710383	T	G	18	24130419	y	y	splicing	TTC39C(NM_153211:exon12:c.1440+2T>G;NM_001135993:exon12:c.1623+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon12:c.1440+2T>G;ENST00000317571:exon12:c.1623+2T>G;ENST00000540918:exon7:c.702+2T>G)	.	.	0.999988247793601	0.93
18	21710384	A	C	18	24130420	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.989289423499142	0.906
18	21710384	A	G	18	24130420	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.24196086699665	0.502
18	21710384	A	T	18	24130420	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.991495218449712	0.88
18	21710385	A	C	18	24130421	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.989042962188061	0.852
18	21710385	A	G	18	24130421	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.993690844156992	0.852
18	21710385	A	T	18	24130421	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.994991974842431	0.876
18	21710386	G	A	18	24130422	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99972213782752	0.724
18	21710386	G	C	18	24130422	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.992404754132573	0.68
18	21710386	G	T	18	24130422	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.991798129943607	0.672
18	21710387	A	C	18	24130423	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.42654667762731E-4	0.242
18	21710387	A	G	18	24130423	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.2079089353322E-5	0.17
18	21710387	A	T	18	24130423	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.42491404216963E-5	0.096
18	21710388	T	A	18	24130424	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.45161912524119E-4	0.008
18	21710388	T	C	18	24130424	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.05400291012202E-4	0.006
18	21710388	T	G	18	24130424	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.175271902372E-4	0.008
18	21710389	C	A	18	24130425	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.1774207046871E-4	0.008
18	21710389	C	G	18	24130425	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.40736759557739E-4	0.0
18	21710389	C	T	18	24130425	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.43066890901006E-4	0.006
18	21711834	T	A	18	24131870	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00274652589428785	0.114
18	21711834	T	C	18	24131870	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.21949704655135E-4	0.01
18	21711834	T	G	18	24131870	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.32960053919493E-4	0.09
18	21711835	T	A	18	24131871	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00194469890467094	0.208
18	21711835	T	C	18	24131871	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.6439206210568E-4	0.016
18	21711835	T	G	18	24131871	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00129355425938476	0.172
18	21711836	T	A	18	24131872	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00286815820130565	0.166
18	21711836	T	C	18	24131872	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.29007996308692E-4	0.022
18	21711836	T	G	18	24131872	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00175091567438351	0.234
18	21711837	T	A	18	24131873	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.73492761785934E-4	0.054
18	21711837	T	C	18	24131873	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.62512536513381E-5	0.02
18	21711837	T	G	18	24131873	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.23001517851557E-4	0.122
18	21711838	T	A	18	24131874	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.40646760392813E-4	0.05
18	21711838	T	C	18	24131874	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.25053254939053E-5	0.008
18	21711838	T	G	18	24131874	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	5.14876904762048E-4	0.086
18	21711839	C	A	18	24131875	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00431873104617473	0.104
18	21711839	C	G	18	24131875	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	9.79659794102571E-4	0.084
18	21711839	C	T	18	24131875	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.90620052528174E-4	0.024
18	21711840	T	A	18	24131876	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0406802793936369	0.206
18	21711840	T	C	18	24131876	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.42350265149111E-4	0.032
18	21711840	T	G	18	24131876	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0273387087783959	0.228
18	21711841	T	A	18	24131877	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00244196033704921	0.314
18	21711841	T	C	18	24131877	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.14709727924963E-4	0.036
18	21711841	T	G	18	24131877	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00617736763153617	0.304
18	21711842	A	C	18	24131878	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.25759468424031E-5	0.0
18	21711842	A	G	18	24131878	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.32014512061397E-5	0.0
18	21711842	A	T	18	24131878	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	6.6908489839209E-5	0.002
18	21711843	T	A	18	24131879	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0399755829515808	0.172
18	21711843	T	C	18	24131879	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	2.02565325030777E-4	0.038
18	21711843	T	G	18	24131879	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99627368205635	0.652
18	21711844	A	C	18	24131880	y	y	splicing	TTC39C(NM_153211:exon13:c.1441-2A>C;NM_001135993:exon13:c.1624-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1441-2A>C;ENST00000317571:exon13:c.1624-2A>C;ENST00000540918:exon8:c.703-2A>C)	.	.	0.999988247793601	0.926
18	21711844	A	G	18	24131880	y	y	splicing	TTC39C(NM_153211:exon13:c.1441-2A>G;NM_001135993:exon13:c.1624-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1441-2A>G;ENST00000317571:exon13:c.1624-2A>G;ENST00000540918:exon8:c.703-2A>G)	.	.	0.999988247793601	0.926
18	21711844	A	T	18	24131880	y	y	splicing	TTC39C(NM_153211:exon13:c.1441-2A>T;NM_001135993:exon13:c.1624-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1441-2A>T;ENST00000317571:exon13:c.1624-2A>T;ENST00000540918:exon8:c.703-2A>T)	.	.	0.999988247793601	0.928
18	21711845	G	A	18	24131881	y	y	splicing	TTC39C(NM_153211:exon13:c.1441-1G>A;NM_001135993:exon13:c.1624-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1441-1G>A;ENST00000317571:exon13:c.1624-1G>A;ENST00000540918:exon8:c.703-1G>A)	.	.	0.999986675681007	0.932
18	21711845	G	C	18	24131881	y	y	splicing	TTC39C(NM_153211:exon13:c.1441-1G>C;NM_001135993:exon13:c.1624-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1441-1G>C;ENST00000317571:exon13:c.1624-1G>C;ENST00000540918:exon8:c.703-1G>C)	.	.	0.999986675681007	0.932
18	21711845	G	T	18	24131881	y	y	splicing	TTC39C(NM_153211:exon13:c.1441-1G>T;NM_001135993:exon13:c.1624-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1441-1G>T;ENST00000317571:exon13:c.1624-1G>T;ENST00000540918:exon8:c.703-1G>T)	.	.	0.999986675681007	0.932
18	21711846	A	C	18	24131882	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.A1624C:p.T542P;TTC39C:NM_153211:exon13:c.A1441C:p.T481P;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.A703C:p.T235P;ENSG00000168234:ENST00000304621:exon13:c.A1441C:p.T481P;ENSG00000168234:ENST00000317571:exon13:c.A1624C:p.T542P;	0.196222430410619	0.596
18	21711846	A	G	18	24131882	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.A1624G:p.T542A;TTC39C:NM_153211:exon13:c.A1441G:p.T481A;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.A703G:p.T235A;ENSG00000168234:ENST00000304621:exon13:c.A1441G:p.T481A;ENSG00000168234:ENST00000317571:exon13:c.A1624G:p.T542A;	0.00391119093386801	0.084
18	21711846	A	T	18	24131882	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.A1624T:p.T542S;TTC39C:NM_153211:exon13:c.A1441T:p.T481S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.A703T:p.T235S;ENSG00000168234:ENST00000304621:exon13:c.A1441T:p.T481S;ENSG00000168234:ENST00000317571:exon13:c.A1624T:p.T542S;	0.00564721810873491	0.102
18	21711847	C	A	18	24131883	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.C1625A:p.T542N;TTC39C:NM_153211:exon13:c.C1442A:p.T481N;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.C704A:p.T235N;ENSG00000168234:ENST00000304621:exon13:c.C1442A:p.T481N;ENSG00000168234:ENST00000317571:exon13:c.C1625A:p.T542N;	0.990989966127858	0.788
18	21711847	C	G	18	24131883	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.C1625G:p.T542S;TTC39C:NM_153211:exon13:c.C1442G:p.T481S;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.C704G:p.T235S;ENSG00000168234:ENST00000304621:exon13:c.C1442G:p.T481S;ENSG00000168234:ENST00000317571:exon13:c.C1625G:p.T542S;	0.0154726429108616	0.108
18	21711847	C	T	18	24131883	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.C1625T:p.T542I;TTC39C:NM_153211:exon13:c.C1442T:p.T481I;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.C704T:p.T235I;ENSG00000168234:ENST00000304621:exon13:c.C1442T:p.T481I;ENSG00000168234:ENST00000317571:exon13:c.C1625T:p.T542I;	0.971989987185046	0.862
18	21711882	A	C	18	24131918	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.A1660C:p.K554Q;TTC39C:NM_153211:exon13:c.A1477C:p.K493Q;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.A739C:p.K247Q;ENSG00000168234:ENST00000304621:exon13:c.A1477C:p.K493Q;ENSG00000168234:ENST00000317571:exon13:c.A1660C:p.K554Q;	0.576957356430559	0.552
18	21711882	A	G	18	24131918	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.A1660G:p.K554E;TTC39C:NM_153211:exon13:c.A1477G:p.K493E;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.A739G:p.K247E;ENSG00000168234:ENST00000304621:exon13:c.A1477G:p.K493E;ENSG00000168234:ENST00000317571:exon13:c.A1660G:p.K554E;	0.215227142939829	0.43
18	21711882	A	T	18	24131918	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon13:c.A1660T:p.K554X;TTC39C:NM_153211:exon13:c.A1477T:p.K493X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000540918:exon8:c.A739T:p.K247X;ENSG00000168234:ENST00000304621:exon13:c.A1477T:p.K493X;ENSG00000168234:ENST00000317571:exon13:c.A1660T:p.K554X;	0.949526301910242	0.696
18	21711883	A	C	18	24131919	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.A1661C:p.K554T;TTC39C:NM_153211:exon13:c.A1478C:p.K493T;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.A740C:p.K247T;ENSG00000168234:ENST00000304621:exon13:c.A1478C:p.K493T;ENSG00000168234:ENST00000317571:exon13:c.A1661C:p.K554T;	0.593906398819529	0.57
18	21711883	A	G	18	24131919	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.A1661G:p.K554R;TTC39C:NM_153211:exon13:c.A1478G:p.K493R;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.A740G:p.K247R;ENSG00000168234:ENST00000304621:exon13:c.A1478G:p.K493R;ENSG00000168234:ENST00000317571:exon13:c.A1661G:p.K554R;	0.897345687036952	0.636
18	21711883	A	T	18	24131919	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.A1661T:p.K554M;TTC39C:NM_153211:exon13:c.A1478T:p.K493M;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.A740T:p.K247M;ENSG00000168234:ENST00000304621:exon13:c.A1478T:p.K493M;ENSG00000168234:ENST00000317571:exon13:c.A1661T:p.K554M;	0.95200809382904	0.652
18	21711884	G	A	18	24131920	y	y	exonic	TTC39C	synonymous SNV	TTC39C:NM_001135993:exon13:c.G1662A:p.K554K;TTC39C:NM_153211:exon13:c.G1479A:p.K493K;	exonic	ENSG00000168234	synonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.G741A:p.K247K;ENSG00000168234:ENST00000304621:exon13:c.G1479A:p.K493K;ENSG00000168234:ENST00000317571:exon13:c.G1662A:p.K554K;	0.999674984936543	0.992
18	21711884	G	C	18	24131920	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.G1662C:p.K554N;TTC39C:NM_153211:exon13:c.G1479C:p.K493N;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.G741C:p.K247N;ENSG00000168234:ENST00000304621:exon13:c.G1479C:p.K493N;ENSG00000168234:ENST00000317571:exon13:c.G1662C:p.K554N;	0.999997406233009	0.996
18	21711884	G	T	18	24131920	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon13:c.G1662T:p.K554N;TTC39C:NM_153211:exon13:c.G1479T:p.K493N;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon8:c.G741T:p.K247N;ENSG00000168234:ENST00000304621:exon13:c.G1479T:p.K493N;ENSG00000168234:ENST00000317571:exon13:c.G1662T:p.K554N;	0.999967854144396	0.982
18	21711885	G	A	18	24131921	y	y	splicing	TTC39C(NM_153211:exon13:c.1479+1G>A;NM_001135993:exon13:c.1662+1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1479+1G>A;ENST00000317571:exon13:c.1662+1G>A;ENST00000540918:exon8:c.741+1G>A)	.	.	0.999993635640679	0.924
18	21711885	G	C	18	24131921	y	y	splicing	TTC39C(NM_153211:exon13:c.1479+1G>C;NM_001135993:exon13:c.1662+1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1479+1G>C;ENST00000317571:exon13:c.1662+1G>C;ENST00000540918:exon8:c.741+1G>C)	.	.	0.999993635640679	0.924
18	21711885	G	T	18	24131921	y	y	splicing	TTC39C(NM_153211:exon13:c.1479+1G>T;NM_001135993:exon13:c.1662+1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1479+1G>T;ENST00000317571:exon13:c.1662+1G>T;ENST00000540918:exon8:c.741+1G>T)	.	.	0.999993635640679	0.924
18	21711886	T	A	18	24131922	y	y	splicing	TTC39C(NM_153211:exon13:c.1479+2T>A;NM_001135993:exon13:c.1662+2T>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1479+2T>A;ENST00000317571:exon13:c.1662+2T>A;ENST00000540918:exon8:c.741+2T>A)	.	.	0.999957916644774	0.898
18	21711886	T	C	18	24131922	y	y	splicing	TTC39C(NM_153211:exon13:c.1479+2T>C;NM_001135993:exon13:c.1662+2T>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1479+2T>C;ENST00000317571:exon13:c.1662+2T>C;ENST00000540918:exon8:c.741+2T>C)	.	.	0.959424683053009	0.554
18	21711886	T	G	18	24131922	y	y	splicing	TTC39C(NM_153211:exon13:c.1479+2T>G;NM_001135993:exon13:c.1662+2T>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon13:c.1479+2T>G;ENST00000317571:exon13:c.1662+2T>G;ENST00000540918:exon8:c.741+2T>G)	.	.	0.999957916644774	0.898
18	21711887	A	C	18	24131923	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99940365754888	0.95
18	21711887	A	G	18	24131923	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.996016395016543	0.794
18	21711887	A	T	18	24131923	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999597513901989	0.93
18	21711888	A	C	18	24131924	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.94877135114465	0.73
18	21711888	A	G	18	24131924	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.975743809395908	0.688
18	21711888	A	T	18	24131924	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.989068218481398	0.706
18	21711889	A	C	18	24131925	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	8.98921898255215E-5	0.04
18	21711889	A	G	18	24131925	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.41557462459331E-5	0.034
18	21711889	A	T	18	24131925	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.08750169356594E-4	0.022
18	21711890	T	A	18	24131926	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00127592464613317	0.048
18	21711890	T	C	18	24131926	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00145440461689282	0.054
18	21711890	T	G	18	24131926	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.87082801390793E-4	0.032
18	21711891	A	C	18	24131927	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.00106947490559E-4	0.004
18	21711891	A	G	18	24131927	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.07489012245972E-4	0.004
18	21711891	A	T	18	24131927	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.56311106026065E-4	0.02
18	21711892	T	A	18	24131928	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.91285012458584E-4	0.082
18	21711892	T	C	18	24131928	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.48225238174322E-4	0.01
18	21711892	T	G	18	24131928	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.91285012458584E-4	0.006
18	21712437	T	A	18	24132473	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.342833950917082	0.386
18	21712437	T	C	18	24132473	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.52542871716131E-4	0.036
18	21712437	T	G	18	24132473	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0713523779183404	0.304
18	21712438	T	A	18	24132474	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.99997882900989	0.952
18	21712438	T	C	18	24132474	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.926873000248853	0.452
18	21712438	T	G	18	24132474	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999326343658071	0.914
18	21712439	G	A	18	24132475	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0155507562700846	0.066
18	21712439	G	C	18	24132475	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00493958133073496	0.056
18	21712439	G	T	18	24132475	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00317013977364548	0.062
18	21712440	A	C	18	24132476	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	3.32923663567677E-5	0.0
18	21712440	A	G	18	24132476	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.44128653598286E-4	0.0
18	21712440	A	T	18	24132476	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.37621520629161E-5	0.0
18	21712441	T	A	18	24132477	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0229708028631614	0.342
18	21712441	T	C	18	24132477	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.0215021224805E-4	0.01
18	21712441	T	G	18	24132477	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999816130478021	0.976
18	21712442	C	A	18	24132478	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.020708636606792	0.17
18	21712442	C	G	18	24132478	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.00802723646007966	0.158
18	21712442	C	T	18	24132478	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	4.13162968782533E-4	0.0
18	21712443	T	A	18	24132479	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.649482113629737	0.498
18	21712443	T	C	18	24132479	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.27408039302357E-4	0.01
18	21712443	T	G	18	24132479	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.664164760770649	0.598
18	21712444	T	A	18	24132480	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.944637062360006	0.548
18	21712444	T	C	18	24132480	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.0021693150690957	0.044
18	21712444	T	G	18	24132480	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.969371699703403	0.62
18	21712445	A	C	18	24132481	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.02379668670796E-4	0.0
18	21712445	A	G	18	24132481	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.50559616700499E-4	0.0
18	21712445	A	T	18	24132481	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	1.57690990663496E-4	0.004
18	21712446	C	A	18	24132482	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999671150891955	0.92
18	21712446	C	G	18	24132482	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.999922271599802	0.952
18	21712446	C	T	18	24132482	y	y	intronic	TTC39C	.	.	intronic	ENSG00000168234	.	.	0.647334151910006	0.206
18	21712447	A	C	18	24132483	y	y	splicing	TTC39C(NM_153211:exon14:c.1480-2A>C;NM_001135993:exon14:c.1663-2A>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon14:c.1480-2A>C;ENST00000317571:exon14:c.1663-2A>C;ENST00000540918:exon9:c.742-2A>C)	.	.	0.999988247793601	0.932
18	21712447	A	G	18	24132483	y	y	splicing	TTC39C(NM_153211:exon14:c.1480-2A>G;NM_001135993:exon14:c.1663-2A>G)	.	.	splicing	ENSG00000168234(ENST00000304621:exon14:c.1480-2A>G;ENST00000317571:exon14:c.1663-2A>G;ENST00000540918:exon9:c.742-2A>G)	.	.	0.999988247793601	0.932
18	21712447	A	T	18	24132483	y	y	splicing	TTC39C(NM_153211:exon14:c.1480-2A>T;NM_001135993:exon14:c.1663-2A>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon14:c.1480-2A>T;ENST00000317571:exon14:c.1663-2A>T;ENST00000540918:exon9:c.742-2A>T)	.	.	0.999988247793601	0.932
18	21712448	G	A	18	24132484	y	y	splicing	TTC39C(NM_153211:exon14:c.1480-1G>A;NM_001135993:exon14:c.1663-1G>A)	.	.	splicing	ENSG00000168234(ENST00000304621:exon14:c.1480-1G>A;ENST00000317571:exon14:c.1663-1G>A;ENST00000540918:exon9:c.742-1G>A)	.	.	0.999990361384395	0.938
18	21712448	G	C	18	24132484	y	y	splicing	TTC39C(NM_153211:exon14:c.1480-1G>C;NM_001135993:exon14:c.1663-1G>C)	.	.	splicing	ENSG00000168234(ENST00000304621:exon14:c.1480-1G>C;ENST00000317571:exon14:c.1663-1G>C;ENST00000540918:exon9:c.742-1G>C)	.	.	0.999990361384395	0.938
18	21712448	G	T	18	24132484	y	y	splicing	TTC39C(NM_153211:exon14:c.1480-1G>T;NM_001135993:exon14:c.1663-1G>T)	.	.	splicing	ENSG00000168234(ENST00000304621:exon14:c.1480-1G>T;ENST00000317571:exon14:c.1663-1G>T;ENST00000540918:exon9:c.742-1G>T)	.	.	0.999990361384395	0.938
18	21712449	G	A	18	24132485	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon14:c.G1663A:p.E555K;TTC39C:NM_153211:exon14:c.G1480A:p.E494K;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon9:c.G742A:p.E248K;ENSG00000168234:ENST00000304621:exon14:c.G1480A:p.E494K;ENSG00000168234:ENST00000317571:exon14:c.G1663A:p.E555K;	0.998332320210961	0.904
18	21712449	G	C	18	24132485	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon14:c.G1663C:p.E555Q;TTC39C:NM_153211:exon14:c.G1480C:p.E494Q;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon9:c.G742C:p.E248Q;ENSG00000168234:ENST00000304621:exon14:c.G1480C:p.E494Q;ENSG00000168234:ENST00000317571:exon14:c.G1663C:p.E555Q;	0.999668718385342	0.97
18	21712449	G	T	18	24132485	y	y	exonic	TTC39C	stopgain SNV	TTC39C:NM_001135993:exon14:c.G1663T:p.E555X;TTC39C:NM_153211:exon14:c.G1480T:p.E494X;	exonic	ENSG00000168234	stopgain SNV	ENSG00000168234:ENST00000540918:exon9:c.G742T:p.E248X;ENSG00000168234:ENST00000304621:exon14:c.G1480T:p.E494X;ENSG00000168234:ENST00000317571:exon14:c.G1663T:p.E555X;	0.99976690912848	0.988
18	21712450	A	C	18	24132486	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon14:c.A1664C:p.E555A;TTC39C:NM_153211:exon14:c.A1481C:p.E494A;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon9:c.A743C:p.E248A;ENSG00000168234:ENST00000304621:exon14:c.A1481C:p.E494A;ENSG00000168234:ENST00000317571:exon14:c.A1664C:p.E555A;	0.869495758754247	0.802
18	21712450	A	G	18	24132486	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon14:c.A1664G:p.E555G;TTC39C:NM_153211:exon14:c.A1481G:p.E494G;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon9:c.A743G:p.E248G;ENSG00000168234:ENST00000304621:exon14:c.A1481G:p.E494G;ENSG00000168234:ENST00000317571:exon14:c.A1664G:p.E555G;	0.852588774511132	0.49
18	21712450	A	T	18	24132486	y	y	exonic	TTC39C	nonsynonymous SNV	TTC39C:NM_001135993:exon14:c.A1664T:p.E555V;TTC39C:NM_153211:exon14:c.A1481T:p.E494V;	exonic	ENSG00000168234	nonsynonymous SNV	ENSG00000168234:ENST00000540918:exon9:c.A743T:p.E248V;ENSG00000168234:ENST00000304621:exon14:c.A1481T:p.E494V;ENSG00000168234:ENST00000317571:exon14:c.A1664T:p.E555V;	0.878844528541134	0.826
18	21719080	C	A	18	24139116	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.04101131763421E-4	0.012
18	21719080	C	G	18	24139116	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.00169836100600067	0.08
18	21719080	C	T	18	24139116	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.067546320581907	0.434
18	21719081	A	C	18	24139117	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.997715077575184	0.932
18	21719081	A	G	18	24139117	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.999228562012978	0.942
18	21719081	A	T	18	24139117	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.999223378465705	0.98
18	21719082	G	A	18	24139118	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.999987827664831	0.98
18	21719082	G	C	18	24139118	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.999978012202665	0.952
18	21719082	G	T	18	24139118	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.999942082829263	0.954
18	21719083	G	A	18	24139119	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999938990645747	0.96
18	21719083	G	C	18	24139119	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999960200702261	0.96
18	21719083	G	T	18	24139119	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999938990645747	0.962
18	21719084	T	A	18	24139120	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999978156327223	0.952
18	21719084	T	C	18	24139120	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999875685685035	0.832
18	21719084	T	G	18	24139120	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999970104448312	0.91
18	21719085	G	A	18	24139121	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00163858487098528	0.054
18	21719085	G	C	18	24139121	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.967893913643489	0.608
18	21719085	G	T	18	24139121	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.932685819524071	0.564
18	21719086	G	A	18	24139122	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.69245345197669E-4	0.122
18	21719086	G	C	18	24139122	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00514000417662542	0.218
18	21719086	G	T	18	24139122	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00329453784972781	0.102
18	21719087	G	A	18	24139123	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.998759611161187	0.874
18	21719087	G	C	18	24139123	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999030717204071	0.958
18	21719087	G	T	18	24139123	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999983140694596	0.992
18	21719088	G	A	18	24139124	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.20812283225234E-4	0.012
18	21719088	G	C	18	24139124	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.65123255959347E-4	0.044
18	21719088	G	T	18	24139124	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.10514392562814E-5	0.01
18	21719089	A	C	18	24139125	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.16680427783628E-5	0.0
18	21719089	A	G	18	24139125	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.01342751532363E-5	0.0
18	21719089	A	T	18	24139125	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.01342751532363E-5	0.0
18	21719090	G	A	18	24139126	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00419003378865007	0.12
18	21719090	G	C	18	24139126	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.72539843988954E-4	0.014
18	21719090	G	T	18	24139126	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0026069534834774	0.03
18	21719486	A	C	18	24139522	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.76375603973572E-5	0.0
18	21719486	A	G	18	24139522	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.76375603973572E-5	0.0
18	21719486	A	T	18	24139522	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.76375603973572E-5	0.002
18	21719487	T	A	18	24139523	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	7.62500938860321E-5	0.0
18	21719487	T	C	18	24139523	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.90866578596279E-5	0.0
18	21719487	T	G	18	24139523	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.90866578596279E-5	0.0
18	21719488	C	A	18	24139524	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.10673763910407E-5	0.01
18	21719488	C	G	18	24139524	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.10673763910407E-5	0.026
18	21719488	C	T	18	24139524	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.10673763910407E-5	0.01
18	21719489	G	A	18	24139525	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	3.57076726553018E-5	0.0
18	21719489	G	C	18	24139525	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	4.7749166663215E-5	0.028
18	21719489	G	T	18	24139525	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	3.57076726553018E-5	0.0
18	21719490	T	A	18	24139526	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.46004206284423E-5	0.0
18	21719490	T	C	18	24139526	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.46004206284423E-5	0.0
18	21719490	T	G	18	24139526	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.46004206284423E-5	0.0
18	21719491	A	C	18	24139527	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.46619449921589E-5	0.0
18	21719491	A	G	18	24139527	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.46619449921589E-5	0.0
18	21719491	A	T	18	24139527	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.66107858676095E-5	0.0
18	21719492	T	A	18	24139528	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.86764315709017E-5	0.0
18	21719492	T	C	18	24139528	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.39457982047225E-5	0.0
18	21719492	T	G	18	24139528	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.39457982047225E-5	0.0
18	21719493	T	A	18	24139529	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.12051756480288E-5	0.0
18	21719493	T	C	18	24139529	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.12051756480288E-5	0.0
18	21719493	T	G	18	24139529	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.12051756480288E-5	0.0
18	21719494	T	A	18	24139530	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.62500938860321E-5	0.0
18	21719494	T	C	18	24139530	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.62500938860321E-5	0.0
18	21719494	T	G	18	24139530	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.62500938860321E-5	0.0
18	21719495	C	A	18	24139531	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.45204556660269E-4	0.028
18	21719495	C	G	18	24139531	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.45204556660269E-4	0.028
18	21719495	C	T	18	24139531	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.45204556660269E-4	0.028
18	21719496	T	A	18	24139532	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.35428655471156E-5	0.002
18	21719496	T	C	18	24139532	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.35428655471156E-5	0.002
18	21719496	T	G	18	24139532	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.35428655471156E-5	0.002
18	21719760	G	A	18	24139796	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	4.08802802279601E-5	0.002
18	21719760	G	C	18	24139796	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.78864525412067E-5	0.002
18	21719760	G	T	18	24139796	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.78864525412067E-5	0.002
18	21719761	G	A	18	24139797	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	5.08291490468438E-5	0.008
18	21719761	G	C	18	24139797	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	1.1738525533333E-5	0.0
18	21719761	G	T	18	24139797	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	1.1738525533333E-5	0.004
18	21719762	G	A	18	24139798	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.78205327723092E-5	0.004
18	21719762	G	C	18	24139798	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.78205327723092E-5	0.006
18	21719762	G	T	18	24139798	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.78205327723092E-5	0.004
18	21719763	G	A	18	24139799	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.41069364790736E-5	0.006
18	21719763	G	C	18	24139799	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.11572536392484E-5	0.006
18	21719763	G	T	18	24139799	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.41069364790736E-5	0.006
18	21719764	T	A	18	24139800	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.63360899965148E-5	0.0
18	21719764	T	C	18	24139800	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.63360899965148E-5	0.01
18	21719764	T	G	18	24139800	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.63360899965148E-5	0.008
18	21719765	G	A	18	24139801	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.91125889811943E-5	0.006
18	21719765	G	C	18	24139801	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.06907936306152E-5	0.002
18	21719765	G	T	18	24139801	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.91125889811943E-5	0.006
18	21719766	A	C	18	24139802	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.52173701430229E-5	0.008
18	21719766	A	G	18	24139802	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.52173701430229E-5	0.008
18	21719766	A	T	18	24139802	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.63360899965148E-5	0.0
18	21719767	G	A	18	24139803	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.77346097862455E-4	0.17
18	21719767	G	C	18	24139803	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.77346097862455E-4	0.056
18	21719767	G	T	18	24139803	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.77346097862455E-4	0.08
18	21719768	A	C	18	24139804	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.52173701430229E-5	0.006
18	21719768	A	G	18	24139804	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.52173701430229E-5	0.006
18	21719768	A	T	18	24139804	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.63360899965148E-5	0.01
18	21719769	A	C	18	24139805	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.70337218186484E-5	0.004
18	21719769	A	G	18	24139805	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.70337218186484E-5	0.034
18	21719769	A	T	18	24139805	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.70337218186484E-5	0.0
18	21719770	C	A	18	24139806	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.78864525412067E-5	0.0
18	21719770	C	G	18	24139806	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.78864525412067E-5	0.0
18	21719770	C	T	18	24139806	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.78864525412067E-5	0.0
18	21719903	T	A	18	24139939	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	5.10250552304391E-5	0.0
18	21719903	T	C	18	24139939	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.30338091304305E-5	0.0
18	21719903	T	G	18	24139939	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.30338091304305E-5	0.0
18	21719904	T	A	18	24139940	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.78864525412067E-5	0.01
18	21719904	T	C	18	24139940	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.45277156108894E-5	0.0
18	21719904	T	G	18	24139940	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.45277156108894E-5	0.0
18	21719905	T	A	18	24139941	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.012
18	21719905	T	C	18	24139941	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719905	T	G	18	24139941	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719906	T	A	18	24139942	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.17380870795729E-5	0.0
18	21719906	T	C	18	24139942	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.17380870795729E-5	0.0
18	21719906	T	G	18	24139942	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.17380870795729E-5	0.0
18	21719907	T	A	18	24139943	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719907	T	C	18	24139943	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719907	T	G	18	24139943	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.026
18	21719908	T	A	18	24139944	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719908	T	C	18	24139944	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719908	T	G	18	24139944	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719909	T	A	18	24139945	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719909	T	C	18	24139945	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719909	T	G	18	24139945	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.60742385600787E-5	0.008
18	21719910	T	A	18	24139946	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.63141535133926E-5	0.0
18	21719910	T	C	18	24139946	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.70357316916945E-5	0.0
18	21719910	T	G	18	24139946	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.70357316916945E-5	0.002
18	21719911	T	A	18	24139947	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.63141535133926E-5	0.0
18	21719911	T	C	18	24139947	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.70357316916945E-5	0.0
18	21719911	T	G	18	24139947	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.70357316916945E-5	0.002
18	21719912	G	A	18	24139948	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.08378557604853E-5	0.0
18	21719912	G	C	18	24139948	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.08378557604853E-5	0.0
18	21719912	G	T	18	24139948	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.08378557604853E-5	0.0
18	21719913	A	C	18	24139949	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.63141535133926E-5	0.0
18	21719913	A	G	18	24139949	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.63141535133926E-5	0.0
18	21719913	A	T	18	24139949	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.63141535133926E-5	0.0
18	21719914	G	A	18	24139950	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.45277156108894E-5	0.0
18	21719914	G	C	18	24139950	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.45277156108894E-5	0.002
18	21719914	G	T	18	24139950	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.45277156108894E-5	0.0
18	21719915	A	C	18	24139951	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.63141535133926E-5	0.0
18	21719915	A	G	18	24139951	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.63141535133926E-5	0.0
18	21719915	A	T	18	24139951	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.83935518155002E-5	0.0
18	21719916	C	A	18	24139952	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	1.67406935090243E-5	0.002
18	21719916	C	G	18	24139952	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	1.08378557604853E-5	0.0
18	21719916	C	T	18	24139952	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	1.67406935090243E-5	0.0
18	21720229	T	A	18	24140265	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.01578748569253E-5	0.012
18	21720229	T	C	18	24140265	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	1.95241758590049E-5	0.012
18	21720229	T	G	18	24140265	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	1.95241758590049E-5	0.012
18	21720230	G	A	18	24140266	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.09337574150394E-6	0.0
18	21720230	G	C	18	24140266	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.09337574150394E-6	0.0
18	21720230	G	T	18	24140266	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.09337574150394E-6	0.004
18	21720231	G	A	18	24140267	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.45277156108894E-5	0.002
18	21720231	G	C	18	24140267	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.45277156108894E-5	0.002
18	21720231	G	T	18	24140267	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.45277156108894E-5	0.002
18	21720232	G	A	18	24140268	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.31019307973896E-4	0.056
18	21720232	G	C	18	24140268	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	9.73370818728849E-5	0.046
18	21720232	G	T	18	24140268	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	9.73370818728849E-5	0.05
18	21720233	T	A	18	24140269	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.14964056047121E-5	0.002
18	21720233	T	C	18	24140269	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.14964056047121E-5	0.002
18	21720233	T	G	18	24140269	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.14964056047121E-5	0.002
18	21720234	A	C	18	24140270	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.57123356397867E-5	0.018
18	21720234	A	G	18	24140270	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.57123356397867E-5	0.018
18	21720234	A	T	18	24140270	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.57123356397867E-5	0.018
18	21720235	C	A	18	24140271	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.09337574150394E-6	0.0
18	21720235	C	G	18	24140271	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.09337574150394E-6	0.0
18	21720235	C	T	18	24140271	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.09337574150394E-6	0.0
18	21720236	T	A	18	24140272	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.57123356397867E-5	0.018
18	21720236	T	C	18	24140272	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.57123356397867E-5	0.018
18	21720236	T	G	18	24140272	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.57123356397867E-5	0.018
18	21720237	T	A	18	24140273	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.07620641825897E-5	0.0
18	21720237	T	C	18	24140273	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.99153316237132E-5	0.0
18	21720237	T	G	18	24140273	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.99153316237132E-5	0.0
18	21720238	A	C	18	24140274	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.0288925866825E-5	0.008
18	21720238	A	G	18	24140274	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.0288925866825E-5	0.008
18	21720238	A	T	18	24140274	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.0288925866825E-5	0.006
18	21720239	A	C	18	24140275	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.45277156108894E-5	0.0
18	21720239	A	G	18	24140275	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.45277156108894E-5	0.0
18	21720239	A	T	18	24140275	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.45277156108894E-5	0.0
18	21723043	T	A	18	24143079	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.148019070572397	0.404
18	21723043	T	C	18	24143079	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00165516688920181	0.054
18	21723043	T	G	18	24143079	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0642372492536608	0.384
18	21723044	C	A	18	24143080	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	5.93873814155897E-4	0.116
18	21723044	C	G	18	24143080	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.18948604927531E-4	0.006
18	21723044	C	T	18	24143080	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.70402881163654E-5	0.0
18	21723045	T	A	18	24143081	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0505264872439904	0.258
18	21723045	T	C	18	24143081	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.1351367115911E-4	0.014
18	21723045	T	G	18	24143081	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.01185383356706	0.296
18	21723046	T	A	18	24143082	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00493280489415037	0.192
18	21723046	T	C	18	24143082	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.27038650201704E-4	0.036
18	21723046	T	G	18	24143082	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00234429861807078	0.184
18	21723047	C	A	18	24143083	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.9546107087218E-4	0.038
18	21723047	C	G	18	24143083	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00120192969691819	0.056
18	21723047	C	T	18	24143083	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.334852334586E-5	0.0
18	21723048	A	C	18	24143084	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.70849495283168E-5	0.0
18	21723048	A	G	18	24143084	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.11993331804284E-5	0.0
18	21723048	A	T	18	24143084	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.9388156452577E-5	0.0
18	21723049	T	A	18	24143085	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0204965057991141	0.21
18	21723049	T	C	18	24143085	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.12232676515605E-4	0.032
18	21723049	T	G	18	24143085	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999909808117914	0.96
18	21723050	T	A	18	24143086	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.554184178289489	0.482
18	21723050	T	C	18	24143086	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0185889887773835	0.152
18	21723050	T	G	18	24143086	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0812268338778887	0.432
18	21723051	C	A	18	24143087	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.11765474063561E-5	0.026
18	21723051	C	G	18	24143087	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.47855092995526E-5	0.0
18	21723051	C	T	18	24143087	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.46120190378391E-5	0.0
18	21723052	T	A	18	24143088	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0695110255814359	0.398
18	21723052	T	C	18	24143088	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.33360971308543E-5	0.014
18	21723052	T	G	18	24143088	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.981484447456595	0.708
18	21723053	A	C	18	24143089	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999855606898996	0.746
18	21723053	A	G	18	24143089	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999855606898996	0.746
18	21723053	A	T	18	24143089	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999855606898996	0.75
18	21723054	G	A	18	24143090	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999947481198155	0.724
18	21723054	G	C	18	24143090	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999947481198155	0.71
18	21723054	G	T	18	24143090	y	y	splicing	CABYR	.	.	splicing	ENSG00000154040	.	.	0.999947481198155	0.71
18	21723055	T	A	18	24143091	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.5050578578591E-5	0.0
18	21723055	T	C	18	24143091	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	4.64400505444005E-5	0.018
18	21723055	T	G	18	24143091	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	5.20989770030995E-5	0.058
18	21723056	T	A	18	24143092	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.00897865624363974	0.088
18	21723056	T	C	18	24143092	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.00301871422573455	0.038
18	21723056	T	G	18	24143092	y	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	0.00202918699959257	0.032
18	21723057	G	A	18	24143093	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.46281875305199E-5	0.0
18	21723057	G	C	18	24143093	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.26798988603892E-5	0.004
18	21723057	G	T	18	24143093	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.58567284298699E-5	0.002
18	21723058	A	C	18	24143094	n	y	UTR5	CABYR	.	.	splicing	ENSG00000154040	.	.	1.35842596009011E-4	0.002
18	21723058	A	G	18	24143094	n	y	UTR5	CABYR	.	.	splicing	ENSG00000154040	.	.	1.91677373742811E-4	0.0
18	21723058	A	T	18	24143094	n	y	UTR5	CABYR	.	.	splicing	ENSG00000154040	.	.	2.06005087784663E-4	0.002
18	21723059	G	A	18	24143095	n	y	UTR5	CABYR	.	.	splicing	ENSG00000154040	.	.	6.1011603121178E-5	0.002
18	21723059	G	C	18	24143095	n	y	UTR5	CABYR	.	.	splicing	ENSG00000154040	.	.	9.23759859102095E-5	0.0
18	21723059	G	T	18	24143095	n	y	UTR5	CABYR	.	.	splicing	ENSG00000154040	.	.	8.69810168643908E-5	0.0
18	21723060	T	A	18	24143096	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	9.37907422191152E-5	0.034
18	21723060	T	C	18	24143096	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.52570757760571E-5	0.034
18	21723060	T	G	18	24143096	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	6.52570757760571E-5	0.036
18	21723061	T	A	18	24143097	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	4.70491654127152E-4	0.058
18	21723061	T	C	18	24143097	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.30293825117109E-4	0.042
18	21723061	T	G	18	24143097	n	y	UTR5	CABYR	.	.	UTR5	ENSG00000154040	.	.	1.85590641181387E-4	0.042
18	21723221	G	A	18	24143257	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon2:c.G143A:p.R48K;CABYR:NM_153769:exon2:c.G143A:p.R48K;CABYR:NM_138644:exon2:c.G143A:p.R48K;CABYR:NM_153768:exon2:c.G143A:p.R48K;CABYR:NM_012189:exon2:c.G143A:p.R48K;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000579102:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000415309:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000581872:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000399499:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000584752:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000486759:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000399496:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000581397:exon2:c.G143A:p.R48K;ENSG00000154040:ENST00000579956:exon2:c.G143A:p.R48K;	0.0010125083963137	0.02
18	21723221	G	C	18	24143257	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon2:c.G143C:p.R48T;CABYR:NM_153769:exon2:c.G143C:p.R48T;CABYR:NM_138644:exon2:c.G143C:p.R48T;CABYR:NM_153768:exon2:c.G143C:p.R48T;CABYR:NM_012189:exon2:c.G143C:p.R48T;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000579102:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000415309:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000581872:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000399499:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000584752:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000486759:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000399496:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000581397:exon2:c.G143C:p.R48T;ENSG00000154040:ENST00000579956:exon2:c.G143C:p.R48T;	7.85850484753532E-4	0.024
18	21723221	G	T	18	24143257	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon2:c.G143T:p.R48I;CABYR:NM_153769:exon2:c.G143T:p.R48I;CABYR:NM_138644:exon2:c.G143T:p.R48I;CABYR:NM_153768:exon2:c.G143T:p.R48I;CABYR:NM_012189:exon2:c.G143T:p.R48I;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000579102:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000415309:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000581872:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000399499:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000584752:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000486759:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000399496:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000581397:exon2:c.G143T:p.R48I;ENSG00000154040:ENST00000579956:exon2:c.G143T:p.R48I;	0.373798101355984	0.366
18	21723222	A	C	18	24143258	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon2:c.A144C:p.R48S;CABYR:NM_153769:exon2:c.A144C:p.R48S;CABYR:NM_138644:exon2:c.A144C:p.R48S;CABYR:NM_153768:exon2:c.A144C:p.R48S;CABYR:NM_012189:exon2:c.A144C:p.R48S;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000579102:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000415309:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000581872:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000399499:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000584752:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000486759:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000399496:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000581397:exon2:c.A144C:p.R48S;ENSG00000154040:ENST00000579956:exon2:c.A144C:p.R48S;	0.98685531287142	0.836
18	21723222	A	G	18	24143258	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon2:c.A144G:p.R48R;CABYR:NM_153769:exon2:c.A144G:p.R48R;CABYR:NM_138644:exon2:c.A144G:p.R48R;CABYR:NM_153768:exon2:c.A144G:p.R48R;CABYR:NM_012189:exon2:c.A144G:p.R48R;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000579102:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000415309:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000581872:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000399499:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000584752:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000486759:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000399496:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000581397:exon2:c.A144G:p.R48R;ENSG00000154040:ENST00000579956:exon2:c.A144G:p.R48R;	0.999642726112845	0.934
18	21723222	A	T	18	24143258	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon2:c.A144T:p.R48S;CABYR:NM_153769:exon2:c.A144T:p.R48S;CABYR:NM_138644:exon2:c.A144T:p.R48S;CABYR:NM_153768:exon2:c.A144T:p.R48S;CABYR:NM_012189:exon2:c.A144T:p.R48S;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000579102:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000415309:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000581872:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000399499:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000584752:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000486759:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000399496:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000581397:exon2:c.A144T:p.R48S;ENSG00000154040:ENST00000579956:exon2:c.A144T:p.R48S;	0.994396200556837	0.808
18	21723223	G	A	18	24143259	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon2:c.G145A:p.G49R;CABYR:NM_153769:exon2:c.G145A:p.G49R;CABYR:NM_138644:exon2:c.G145A:p.G49R;CABYR:NM_153768:exon2:c.G145A:p.V49I;CABYR:NM_012189:exon2:c.G145A:p.G49R;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.G145A:p.G49R;ENSG00000154040:ENST00000579102:exon2:c.G145A:p.G49R;ENSG00000154040:ENST00000415309:exon2:c.G145A:p.G49R;ENSG00000154040:ENST00000581872:exon2:c.G145A:p.G49R;ENSG00000154040:ENST00000399499:exon2:c.G145A:p.G49R;ENSG00000154040:ENST00000584752:exon2:c.G145A:p.G49R;ENSG00000154040:ENST00000486759:exon2:c.G145A:p.V49I;ENSG00000154040:ENST00000399496:exon2:c.G145A:p.G49R;ENSG00000154040:ENST00000581397:exon2:c.G145A:p.G49R;ENSG00000154040:ENST00000579956:exon2:c.G145A:p.G49R;	0.999967151195955	0.998
18	21723223	G	C	18	24143259	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon2:c.G145C:p.G49R;CABYR:NM_153769:exon2:c.G145C:p.G49R;CABYR:NM_138644:exon2:c.G145C:p.G49R;CABYR:NM_153768:exon2:c.G145C:p.V49L;CABYR:NM_012189:exon2:c.G145C:p.G49R;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.G145C:p.G49R;ENSG00000154040:ENST00000579102:exon2:c.G145C:p.G49R;ENSG00000154040:ENST00000415309:exon2:c.G145C:p.G49R;ENSG00000154040:ENST00000581872:exon2:c.G145C:p.G49R;ENSG00000154040:ENST00000399499:exon2:c.G145C:p.G49R;ENSG00000154040:ENST00000584752:exon2:c.G145C:p.G49R;ENSG00000154040:ENST00000486759:exon2:c.G145C:p.V49L;ENSG00000154040:ENST00000399496:exon2:c.G145C:p.G49R;ENSG00000154040:ENST00000581397:exon2:c.G145C:p.G49R;ENSG00000154040:ENST00000579956:exon2:c.G145C:p.G49R;	0.999993876975417	0.974
18	21723223	G	T	18	24143259	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon2:c.G145T:p.G49W;CABYR:NM_153769:exon2:c.G145T:p.G49W;CABYR:NM_138644:exon2:c.G145T:p.G49W;CABYR:NM_153768:exon2:c.G145T:p.V49L;CABYR:NM_012189:exon2:c.G145T:p.G49W;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon2:c.G145T:p.G49W;ENSG00000154040:ENST00000579102:exon2:c.G145T:p.G49W;ENSG00000154040:ENST00000415309:exon2:c.G145T:p.G49W;ENSG00000154040:ENST00000581872:exon2:c.G145T:p.G49W;ENSG00000154040:ENST00000399499:exon2:c.G145T:p.G49W;ENSG00000154040:ENST00000584752:exon2:c.G145T:p.G49W;ENSG00000154040:ENST00000486759:exon2:c.G145T:p.V49L;ENSG00000154040:ENST00000399496:exon2:c.G145T:p.G49W;ENSG00000154040:ENST00000581397:exon2:c.G145T:p.G49W;ENSG00000154040:ENST00000579956:exon2:c.G145T:p.G49W;	0.999954633606918	0.992
18	21723224	G	A	18	24143260	y	y	splicing	CABYR(NM_153770:exon2:c.145+1G>A;NM_153769:exon2:c.145+1G>A;NM_153768:exon2:c.145+1G>A;NM_012189:exon2:c.145+1G>A;NM_138644:exon2:c.145+1G>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon2:c.145+1G>A;ENST00000486759:exon2:c.145+1G>A;ENST00000415309:exon2:c.145+1G>A;ENST00000581872:exon2:c.145+1G>A;ENST00000584752:exon2:c.145+1G>A;ENST00000579956:exon2:c.145+1G>A;ENST00000463087:exon2:c.145+1G>A;ENST00000399499:exon2:c.145+1G>A;ENST00000581397:exon2:c.145+1G>A;ENST00000579102:exon2:c.145+1G>A)	.	.	0.999967335026411	0.954
18	21723224	G	C	18	24143260	y	y	splicing	CABYR(NM_153770:exon2:c.145+1G>C;NM_153769:exon2:c.145+1G>C;NM_153768:exon2:c.145+1G>C;NM_012189:exon2:c.145+1G>C;NM_138644:exon2:c.145+1G>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon2:c.145+1G>C;ENST00000486759:exon2:c.145+1G>C;ENST00000415309:exon2:c.145+1G>C;ENST00000581872:exon2:c.145+1G>C;ENST00000584752:exon2:c.145+1G>C;ENST00000579956:exon2:c.145+1G>C;ENST00000463087:exon2:c.145+1G>C;ENST00000399499:exon2:c.145+1G>C;ENST00000581397:exon2:c.145+1G>C;ENST00000579102:exon2:c.145+1G>C)	.	.	0.999915710762489	0.954
18	21723224	G	T	18	24143260	y	y	splicing	CABYR(NM_153770:exon2:c.145+1G>T;NM_153769:exon2:c.145+1G>T;NM_153768:exon2:c.145+1G>T;NM_012189:exon2:c.145+1G>T;NM_138644:exon2:c.145+1G>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon2:c.145+1G>T;ENST00000486759:exon2:c.145+1G>T;ENST00000415309:exon2:c.145+1G>T;ENST00000581872:exon2:c.145+1G>T;ENST00000584752:exon2:c.145+1G>T;ENST00000579956:exon2:c.145+1G>T;ENST00000463087:exon2:c.145+1G>T;ENST00000399499:exon2:c.145+1G>T;ENST00000581397:exon2:c.145+1G>T;ENST00000579102:exon2:c.145+1G>T)	.	.	0.999915710762489	0.954
18	21723225	T	A	18	24143261	y	y	splicing	CABYR(NM_153770:exon2:c.145+2T>A;NM_153769:exon2:c.145+2T>A;NM_153768:exon2:c.145+2T>A;NM_012189:exon2:c.145+2T>A;NM_138644:exon2:c.145+2T>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon2:c.145+2T>A;ENST00000486759:exon2:c.145+2T>A;ENST00000415309:exon2:c.145+2T>A;ENST00000581872:exon2:c.145+2T>A;ENST00000584752:exon2:c.145+2T>A;ENST00000579956:exon2:c.145+2T>A;ENST00000463087:exon2:c.145+2T>A;ENST00000399499:exon2:c.145+2T>A;ENST00000581397:exon2:c.145+2T>A;ENST00000579102:exon2:c.145+2T>A)	.	.	0.999986903042585	0.946
18	21723225	T	C	18	24143261	y	y	splicing	CABYR(NM_153770:exon2:c.145+2T>C;NM_153769:exon2:c.145+2T>C;NM_153768:exon2:c.145+2T>C;NM_012189:exon2:c.145+2T>C;NM_138644:exon2:c.145+2T>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon2:c.145+2T>C;ENST00000486759:exon2:c.145+2T>C;ENST00000415309:exon2:c.145+2T>C;ENST00000581872:exon2:c.145+2T>C;ENST00000584752:exon2:c.145+2T>C;ENST00000579956:exon2:c.145+2T>C;ENST00000463087:exon2:c.145+2T>C;ENST00000399499:exon2:c.145+2T>C;ENST00000581397:exon2:c.145+2T>C;ENST00000579102:exon2:c.145+2T>C)	.	.	0.988796083570764	0.686
18	21723225	T	G	18	24143261	y	y	splicing	CABYR(NM_153770:exon2:c.145+2T>G;NM_153769:exon2:c.145+2T>G;NM_153768:exon2:c.145+2T>G;NM_012189:exon2:c.145+2T>G;NM_138644:exon2:c.145+2T>G)	.	.	splicing	ENSG00000154040(ENST00000399496:exon2:c.145+2T>G;ENST00000486759:exon2:c.145+2T>G;ENST00000415309:exon2:c.145+2T>G;ENST00000581872:exon2:c.145+2T>G;ENST00000584752:exon2:c.145+2T>G;ENST00000579956:exon2:c.145+2T>G;ENST00000463087:exon2:c.145+2T>G;ENST00000399499:exon2:c.145+2T>G;ENST00000581397:exon2:c.145+2T>G;ENST00000579102:exon2:c.145+2T>G)	.	.	0.999966203349492	0.946
18	21723226	T	A	18	24143262	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.8223517985394E-4	0.042
18	21723226	T	C	18	24143262	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0312209449866932	0.222
18	21723226	T	G	18	24143262	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.04030397115059E-4	0.02
18	21723227	T	A	18	24143263	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.55707751823328E-4	0.062
18	21723227	T	C	18	24143263	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.79070355551132E-4	0.092
18	21723227	T	G	18	24143263	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.14307995423133E-4	0.002
18	21723228	G	A	18	24143264	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999526533353331	0.946
18	21723228	G	C	18	24143264	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999980845398425	0.988
18	21723228	G	T	18	24143264	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999976618405165	0.976
18	21723229	T	A	18	24143265	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.975528418522331	0.676
18	21723229	T	C	18	24143265	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.985148044592559	0.786
18	21723229	T	G	18	24143265	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.979020740279382	0.742
18	21723230	T	A	18	24143266	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.17446492979832E-5	0.014
18	21723230	T	C	18	24143266	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.17446492979832E-5	0.03
18	21723230	T	G	18	24143266	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.12332630071869E-4	0.03
18	21723231	A	C	18	24143267	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.52705114201941E-5	0.026
18	21723231	A	G	18	24143267	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.52705114201941E-5	0.018
18	21723231	A	T	18	24143267	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.06543712345702E-6	0.002
18	21723312	T	A	18	24143348	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999946383438117	0.97
18	21723312	T	C	18	24143348	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00304944483380312	0.102
18	21723312	T	G	18	24143348	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.940622798822355	0.724
18	21723313	G	A	18	24143349	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00647593673154974	0.122
18	21723313	G	C	18	24143349	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00170337173168007	0.082
18	21723313	G	T	18	24143349	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00170337173168007	0.214
18	21723314	A	C	18	24143350	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.434043284979783	0.394
18	21723314	A	G	18	24143350	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.827708029969599	0.698
18	21723314	A	T	18	24143350	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.549151768145179	0.516
18	21723315	T	A	18	24143351	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.945724154640948	0.758
18	21723315	T	C	18	24143351	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00718082987885489	0.096
18	21723315	T	G	18	24143351	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999989820873615	0.974
18	21723316	T	A	18	24143352	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.613695680253093	0.596
18	21723316	T	C	18	24143352	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0111594030239875	0.112
18	21723316	T	G	18	24143352	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.241813742868872	0.542
18	21723317	C	A	18	24143353	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00397011368072436	0.136
18	21723317	C	G	18	24143353	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00423854843547582	0.098
18	21723317	C	T	18	24143353	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.33796556426251E-4	0.112
18	21723318	C	A	18	24143354	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00265047018881937	0.242
18	21723318	C	G	18	24143354	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00644554355674307	0.312
18	21723318	C	T	18	24143354	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	5.7885691260791E-5	0.01
18	21723319	T	A	18	24143355	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.378986102131257	0.6
18	21723319	T	C	18	24143355	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00112663554297612	0.04
18	21723319	T	G	18	24143355	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.977173040869332	0.608
18	21723320	T	A	18	24143356	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00105062838788828	0.008
18	21723320	T	C	18	24143356	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.81025011124799E-4	0.052
18	21723320	T	G	18	24143356	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.96243148249263E-4	0.11
18	21723321	C	A	18	24143357	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.972355507646959	0.71
18	21723321	C	G	18	24143357	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999576232956881	0.906
18	21723321	C	T	18	24143357	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00291344872971041	0.084
18	21723322	A	C	18	24143358	y	y	splicing	CABYR(NM_153770:exon3:c.146-2A>C;NM_153769:exon3:c.146-2A>C;NM_012189:exon3:c.146-2A>C;NM_138644:exon3:c.146-2A>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.146-2A>C;ENST00000415309:exon3:c.146-2A>C;ENST00000581872:exon3:c.146-2A>C;ENST00000584752:exon3:c.146-2A>C;ENST00000579956:exon3:c.146-2A>C;ENST00000463087:exon3:c.146-2A>C;ENST00000399499:exon3:c.146-2A>C;ENST00000581397:exon3:c.146-2A>C;ENST00000579102:exon3:c.146-2A>C)	.	.	0.999988624979899	0.944
18	21723322	A	G	18	24143358	y	y	splicing	CABYR(NM_153770:exon3:c.146-2A>G;NM_153769:exon3:c.146-2A>G;NM_012189:exon3:c.146-2A>G;NM_138644:exon3:c.146-2A>G)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.146-2A>G;ENST00000415309:exon3:c.146-2A>G;ENST00000581872:exon3:c.146-2A>G;ENST00000584752:exon3:c.146-2A>G;ENST00000579956:exon3:c.146-2A>G;ENST00000463087:exon3:c.146-2A>G;ENST00000399499:exon3:c.146-2A>G;ENST00000581397:exon3:c.146-2A>G;ENST00000579102:exon3:c.146-2A>G)	.	.	0.999988624979899	0.944
18	21723322	A	T	18	24143358	y	y	splicing	CABYR(NM_153770:exon3:c.146-2A>T;NM_153769:exon3:c.146-2A>T;NM_012189:exon3:c.146-2A>T;NM_138644:exon3:c.146-2A>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.146-2A>T;ENST00000415309:exon3:c.146-2A>T;ENST00000581872:exon3:c.146-2A>T;ENST00000584752:exon3:c.146-2A>T;ENST00000579956:exon3:c.146-2A>T;ENST00000463087:exon3:c.146-2A>T;ENST00000399499:exon3:c.146-2A>T;ENST00000581397:exon3:c.146-2A>T;ENST00000579102:exon3:c.146-2A>T)	.	.	0.999988624979899	0.944
18	21723323	G	A	18	24143359	y	y	splicing	CABYR(NM_153770:exon3:c.146-1G>A;NM_153769:exon3:c.146-1G>A;NM_012189:exon3:c.146-1G>A;NM_138644:exon3:c.146-1G>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.146-1G>A;ENST00000415309:exon3:c.146-1G>A;ENST00000581872:exon3:c.146-1G>A;ENST00000584752:exon3:c.146-1G>A;ENST00000579956:exon3:c.146-1G>A;ENST00000463087:exon3:c.146-1G>A;ENST00000399499:exon3:c.146-1G>A;ENST00000581397:exon3:c.146-1G>A;ENST00000579102:exon3:c.146-1G>A)	.	.	0.999979422316293	0.95
18	21723323	G	C	18	24143359	y	y	splicing	CABYR(NM_153770:exon3:c.146-1G>C;NM_153769:exon3:c.146-1G>C;NM_012189:exon3:c.146-1G>C;NM_138644:exon3:c.146-1G>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.146-1G>C;ENST00000415309:exon3:c.146-1G>C;ENST00000581872:exon3:c.146-1G>C;ENST00000584752:exon3:c.146-1G>C;ENST00000579956:exon3:c.146-1G>C;ENST00000463087:exon3:c.146-1G>C;ENST00000399499:exon3:c.146-1G>C;ENST00000581397:exon3:c.146-1G>C;ENST00000579102:exon3:c.146-1G>C)	.	.	0.999979422316293	0.95
18	21723323	G	T	18	24143359	y	y	splicing	CABYR(NM_153770:exon3:c.146-1G>T;NM_153769:exon3:c.146-1G>T;NM_012189:exon3:c.146-1G>T;NM_138644:exon3:c.146-1G>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.146-1G>T;ENST00000415309:exon3:c.146-1G>T;ENST00000581872:exon3:c.146-1G>T;ENST00000584752:exon3:c.146-1G>T;ENST00000579956:exon3:c.146-1G>T;ENST00000463087:exon3:c.146-1G>T;ENST00000399499:exon3:c.146-1G>T;ENST00000581397:exon3:c.146-1G>T;ENST00000579102:exon3:c.146-1G>T)	.	.	0.999979422316293	0.95
18	21723324	G	A	18	24143360	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.G146A:p.G49E;CABYR:NM_153769:exon3:c.G146A:p.G49E;CABYR:NM_138644:exon3:c.G146A:p.G49E;CABYR:NM_012189:exon3:c.G146A:p.G49E;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G146A:p.G49E;ENSG00000154040:ENST00000579102:exon3:c.G146A:p.G49E;ENSG00000154040:ENST00000415309:exon3:c.G146A:p.G49E;ENSG00000154040:ENST00000581872:exon3:c.G146A:p.G49E;ENSG00000154040:ENST00000399499:exon3:c.G146A:p.G49E;ENSG00000154040:ENST00000584752:exon3:c.G146A:p.G49E;ENSG00000154040:ENST00000399496:exon3:c.G146A:p.G49E;ENSG00000154040:ENST00000581397:exon3:c.G146A:p.G49E;ENSG00000154040:ENST00000579956:exon3:c.G146A:p.G49E;	0.00214315645472474	0.102
18	21723324	G	C	18	24143360	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.G146C:p.G49A;CABYR:NM_153769:exon3:c.G146C:p.G49A;CABYR:NM_138644:exon3:c.G146C:p.G49A;CABYR:NM_012189:exon3:c.G146C:p.G49A;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G146C:p.G49A;ENSG00000154040:ENST00000579102:exon3:c.G146C:p.G49A;ENSG00000154040:ENST00000415309:exon3:c.G146C:p.G49A;ENSG00000154040:ENST00000581872:exon3:c.G146C:p.G49A;ENSG00000154040:ENST00000399499:exon3:c.G146C:p.G49A;ENSG00000154040:ENST00000584752:exon3:c.G146C:p.G49A;ENSG00000154040:ENST00000399496:exon3:c.G146C:p.G49A;ENSG00000154040:ENST00000581397:exon3:c.G146C:p.G49A;ENSG00000154040:ENST00000579956:exon3:c.G146C:p.G49A;	0.0237882629463873	0.256
18	21723324	G	T	18	24143360	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.G146T:p.G49V;CABYR:NM_153769:exon3:c.G146T:p.G49V;CABYR:NM_138644:exon3:c.G146T:p.G49V;CABYR:NM_012189:exon3:c.G146T:p.G49V;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G146T:p.G49V;ENSG00000154040:ENST00000579102:exon3:c.G146T:p.G49V;ENSG00000154040:ENST00000415309:exon3:c.G146T:p.G49V;ENSG00000154040:ENST00000581872:exon3:c.G146T:p.G49V;ENSG00000154040:ENST00000399499:exon3:c.G146T:p.G49V;ENSG00000154040:ENST00000584752:exon3:c.G146T:p.G49V;ENSG00000154040:ENST00000399496:exon3:c.G146T:p.G49V;ENSG00000154040:ENST00000581397:exon3:c.G146T:p.G49V;ENSG00000154040:ENST00000579956:exon3:c.G146T:p.G49V;	0.244382878649263	0.474
18	21723325	G	A	18	24143361	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon3:c.G147A:p.G49G;CABYR:NM_153769:exon3:c.G147A:p.G49G;CABYR:NM_138644:exon3:c.G147A:p.G49G;CABYR:NM_012189:exon3:c.G147A:p.G49G;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G147A:p.G49G;ENSG00000154040:ENST00000579102:exon3:c.G147A:p.G49G;ENSG00000154040:ENST00000415309:exon3:c.G147A:p.G49G;ENSG00000154040:ENST00000581872:exon3:c.G147A:p.G49G;ENSG00000154040:ENST00000399499:exon3:c.G147A:p.G49G;ENSG00000154040:ENST00000584752:exon3:c.G147A:p.G49G;ENSG00000154040:ENST00000399496:exon3:c.G147A:p.G49G;ENSG00000154040:ENST00000581397:exon3:c.G147A:p.G49G;ENSG00000154040:ENST00000579956:exon3:c.G147A:p.G49G;	4.26909731908604E-4	0.096
18	21723325	G	C	18	24143361	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon3:c.G147C:p.G49G;CABYR:NM_153769:exon3:c.G147C:p.G49G;CABYR:NM_138644:exon3:c.G147C:p.G49G;CABYR:NM_012189:exon3:c.G147C:p.G49G;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G147C:p.G49G;ENSG00000154040:ENST00000579102:exon3:c.G147C:p.G49G;ENSG00000154040:ENST00000415309:exon3:c.G147C:p.G49G;ENSG00000154040:ENST00000581872:exon3:c.G147C:p.G49G;ENSG00000154040:ENST00000399499:exon3:c.G147C:p.G49G;ENSG00000154040:ENST00000584752:exon3:c.G147C:p.G49G;ENSG00000154040:ENST00000399496:exon3:c.G147C:p.G49G;ENSG00000154040:ENST00000581397:exon3:c.G147C:p.G49G;ENSG00000154040:ENST00000579956:exon3:c.G147C:p.G49G;	1.78285138216615E-4	0.024
18	21723325	G	T	18	24143361	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon3:c.G147T:p.G49G;CABYR:NM_153769:exon3:c.G147T:p.G49G;CABYR:NM_138644:exon3:c.G147T:p.G49G;CABYR:NM_012189:exon3:c.G147T:p.G49G;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G147T:p.G49G;ENSG00000154040:ENST00000579102:exon3:c.G147T:p.G49G;ENSG00000154040:ENST00000415309:exon3:c.G147T:p.G49G;ENSG00000154040:ENST00000581872:exon3:c.G147T:p.G49G;ENSG00000154040:ENST00000399499:exon3:c.G147T:p.G49G;ENSG00000154040:ENST00000584752:exon3:c.G147T:p.G49G;ENSG00000154040:ENST00000399496:exon3:c.G147T:p.G49G;ENSG00000154040:ENST00000581397:exon3:c.G147T:p.G49G;ENSG00000154040:ENST00000579956:exon3:c.G147T:p.G49G;	2.10453493139854E-4	0.108
18	21723375	A	C	18	24143411	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.A197C:p.K66T;CABYR:NM_153769:exon3:c.A197C:p.K66T;CABYR:NM_138644:exon3:c.A197C:p.K66T;CABYR:NM_012189:exon3:c.A197C:p.K66T;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.A197C:p.K66T;ENSG00000154040:ENST00000579102:exon3:c.A197C:p.K66T;ENSG00000154040:ENST00000415309:exon3:c.A197C:p.K66T;ENSG00000154040:ENST00000581872:exon3:c.A197C:p.K66T;ENSG00000154040:ENST00000399499:exon3:c.A197C:p.K66T;ENSG00000154040:ENST00000584752:exon3:c.A197C:p.K66T;ENSG00000154040:ENST00000399496:exon3:c.A197C:p.K66T;ENSG00000154040:ENST00000581397:exon3:c.A197C:p.K66T;ENSG00000154040:ENST00000579956:exon3:c.A197C:p.K66T;	1.56753451731778E-5	0.002
18	21723375	A	G	18	24143411	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.A197G:p.K66R;CABYR:NM_153769:exon3:c.A197G:p.K66R;CABYR:NM_138644:exon3:c.A197G:p.K66R;CABYR:NM_012189:exon3:c.A197G:p.K66R;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.A197G:p.K66R;ENSG00000154040:ENST00000579102:exon3:c.A197G:p.K66R;ENSG00000154040:ENST00000415309:exon3:c.A197G:p.K66R;ENSG00000154040:ENST00000581872:exon3:c.A197G:p.K66R;ENSG00000154040:ENST00000399499:exon3:c.A197G:p.K66R;ENSG00000154040:ENST00000584752:exon3:c.A197G:p.K66R;ENSG00000154040:ENST00000399496:exon3:c.A197G:p.K66R;ENSG00000154040:ENST00000581397:exon3:c.A197G:p.K66R;ENSG00000154040:ENST00000579956:exon3:c.A197G:p.K66R;	3.61413710651261E-5	0.0
18	21723375	A	T	18	24143411	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.A197T:p.K66I;CABYR:NM_153769:exon3:c.A197T:p.K66I;CABYR:NM_138644:exon3:c.A197T:p.K66I;CABYR:NM_012189:exon3:c.A197T:p.K66I;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.A197T:p.K66I;ENSG00000154040:ENST00000579102:exon3:c.A197T:p.K66I;ENSG00000154040:ENST00000415309:exon3:c.A197T:p.K66I;ENSG00000154040:ENST00000581872:exon3:c.A197T:p.K66I;ENSG00000154040:ENST00000399499:exon3:c.A197T:p.K66I;ENSG00000154040:ENST00000584752:exon3:c.A197T:p.K66I;ENSG00000154040:ENST00000399496:exon3:c.A197T:p.K66I;ENSG00000154040:ENST00000581397:exon3:c.A197T:p.K66I;ENSG00000154040:ENST00000579956:exon3:c.A197T:p.K66I;	1.5755226230038E-4	0.09
18	21723376	A	C	18	24143412	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.A198C:p.K66N;CABYR:NM_153769:exon3:c.A198C:p.K66N;CABYR:NM_138644:exon3:c.A198C:p.K66N;CABYR:NM_012189:exon3:c.A198C:p.K66N;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.A198C:p.K66N;ENSG00000154040:ENST00000579102:exon3:c.A198C:p.K66N;ENSG00000154040:ENST00000415309:exon3:c.A198C:p.K66N;ENSG00000154040:ENST00000581872:exon3:c.A198C:p.K66N;ENSG00000154040:ENST00000399499:exon3:c.A198C:p.K66N;ENSG00000154040:ENST00000584752:exon3:c.A198C:p.K66N;ENSG00000154040:ENST00000399496:exon3:c.A198C:p.K66N;ENSG00000154040:ENST00000581397:exon3:c.A198C:p.K66N;ENSG00000154040:ENST00000579956:exon3:c.A198C:p.K66N;	0.139804830968193	0.44
18	21723376	A	G	18	24143412	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon3:c.A198G:p.K66K;CABYR:NM_153769:exon3:c.A198G:p.K66K;CABYR:NM_138644:exon3:c.A198G:p.K66K;CABYR:NM_012189:exon3:c.A198G:p.K66K;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.A198G:p.K66K;ENSG00000154040:ENST00000579102:exon3:c.A198G:p.K66K;ENSG00000154040:ENST00000415309:exon3:c.A198G:p.K66K;ENSG00000154040:ENST00000581872:exon3:c.A198G:p.K66K;ENSG00000154040:ENST00000399499:exon3:c.A198G:p.K66K;ENSG00000154040:ENST00000584752:exon3:c.A198G:p.K66K;ENSG00000154040:ENST00000399496:exon3:c.A198G:p.K66K;ENSG00000154040:ENST00000581397:exon3:c.A198G:p.K66K;ENSG00000154040:ENST00000579956:exon3:c.A198G:p.K66K;	0.550078923733263	0.456
18	21723376	A	T	18	24143412	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.A198T:p.K66N;CABYR:NM_153769:exon3:c.A198T:p.K66N;CABYR:NM_138644:exon3:c.A198T:p.K66N;CABYR:NM_012189:exon3:c.A198T:p.K66N;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.A198T:p.K66N;ENSG00000154040:ENST00000579102:exon3:c.A198T:p.K66N;ENSG00000154040:ENST00000415309:exon3:c.A198T:p.K66N;ENSG00000154040:ENST00000581872:exon3:c.A198T:p.K66N;ENSG00000154040:ENST00000399499:exon3:c.A198T:p.K66N;ENSG00000154040:ENST00000584752:exon3:c.A198T:p.K66N;ENSG00000154040:ENST00000399496:exon3:c.A198T:p.K66N;ENSG00000154040:ENST00000581397:exon3:c.A198T:p.K66N;ENSG00000154040:ENST00000579956:exon3:c.A198T:p.K66N;	0.139804830968193	0.408
18	21723377	G	A	18	24143413	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.G199A:p.V67I;CABYR:NM_153769:exon3:c.G199A:p.V67I;CABYR:NM_138644:exon3:c.G199A:p.V67I;CABYR:NM_012189:exon3:c.G199A:p.V67I;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G199A:p.V67I;ENSG00000154040:ENST00000579102:exon3:c.G199A:p.V67I;ENSG00000154040:ENST00000415309:exon3:c.G199A:p.V67I;ENSG00000154040:ENST00000581872:exon3:c.G199A:p.D67N;ENSG00000154040:ENST00000399499:exon3:c.G199A:p.V67I;ENSG00000154040:ENST00000584752:exon3:c.G199A:p.D67N;ENSG00000154040:ENST00000399496:exon3:c.G199A:p.V67I;ENSG00000154040:ENST00000581397:exon3:c.G199A:p.V67I;ENSG00000154040:ENST00000579956:exon3:c.G199A:p.D67N;	0.48165720094526	0.508
18	21723377	G	C	18	24143413	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.G199C:p.V67L;CABYR:NM_153769:exon3:c.G199C:p.V67L;CABYR:NM_138644:exon3:c.G199C:p.V67L;CABYR:NM_012189:exon3:c.G199C:p.V67L;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G199C:p.V67L;ENSG00000154040:ENST00000579102:exon3:c.G199C:p.V67L;ENSG00000154040:ENST00000415309:exon3:c.G199C:p.V67L;ENSG00000154040:ENST00000581872:exon3:c.G199C:p.D67H;ENSG00000154040:ENST00000399499:exon3:c.G199C:p.V67L;ENSG00000154040:ENST00000584752:exon3:c.G199C:p.D67H;ENSG00000154040:ENST00000399496:exon3:c.G199C:p.V67L;ENSG00000154040:ENST00000581397:exon3:c.G199C:p.V67L;ENSG00000154040:ENST00000579956:exon3:c.G199C:p.D67H;	0.360544972823854	0.464
18	21723377	G	T	18	24143413	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon3:c.G199T:p.V67L;CABYR:NM_153769:exon3:c.G199T:p.V67L;CABYR:NM_138644:exon3:c.G199T:p.V67L;CABYR:NM_012189:exon3:c.G199T:p.V67L;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon3:c.G199T:p.V67L;ENSG00000154040:ENST00000579102:exon3:c.G199T:p.V67L;ENSG00000154040:ENST00000415309:exon3:c.G199T:p.V67L;ENSG00000154040:ENST00000581872:exon3:c.G199T:p.D67Y;ENSG00000154040:ENST00000399499:exon3:c.G199T:p.V67L;ENSG00000154040:ENST00000584752:exon3:c.G199T:p.D67Y;ENSG00000154040:ENST00000399496:exon3:c.G199T:p.V67L;ENSG00000154040:ENST00000581397:exon3:c.G199T:p.V67L;ENSG00000154040:ENST00000579956:exon3:c.G199T:p.D67Y;	0.586556737443049	0.484
18	21723378	G	A	18	24143414	y	y	splicing	CABYR(NM_153770:exon3:c.199+1G>A;NM_153769:exon3:c.199+1G>A;NM_012189:exon3:c.199+1G>A;NM_138644:exon3:c.199+1G>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.199+1G>A;ENST00000415309:exon3:c.199+1G>A;ENST00000581872:exon3:c.199+1G>A;ENST00000584752:exon3:c.199+1G>A;ENST00000579956:exon3:c.199+1G>A;ENST00000463087:exon3:c.199+1G>A;ENST00000399499:exon3:c.199+1G>A;ENST00000581397:exon3:c.199+1G>A;ENST00000579102:exon3:c.199+1G>A)	.	.	0.999981760802075	0.944
18	21723378	G	C	18	24143414	y	y	splicing	CABYR(NM_153770:exon3:c.199+1G>C;NM_153769:exon3:c.199+1G>C;NM_012189:exon3:c.199+1G>C;NM_138644:exon3:c.199+1G>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.199+1G>C;ENST00000415309:exon3:c.199+1G>C;ENST00000581872:exon3:c.199+1G>C;ENST00000584752:exon3:c.199+1G>C;ENST00000579956:exon3:c.199+1G>C;ENST00000463087:exon3:c.199+1G>C;ENST00000399499:exon3:c.199+1G>C;ENST00000581397:exon3:c.199+1G>C;ENST00000579102:exon3:c.199+1G>C)	.	.	0.999967335026411	0.942
18	21723378	G	T	18	24143414	y	y	splicing	CABYR(NM_153770:exon3:c.199+1G>T;NM_153769:exon3:c.199+1G>T;NM_012189:exon3:c.199+1G>T;NM_138644:exon3:c.199+1G>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.199+1G>T;ENST00000415309:exon3:c.199+1G>T;ENST00000581872:exon3:c.199+1G>T;ENST00000584752:exon3:c.199+1G>T;ENST00000579956:exon3:c.199+1G>T;ENST00000463087:exon3:c.199+1G>T;ENST00000399499:exon3:c.199+1G>T;ENST00000581397:exon3:c.199+1G>T;ENST00000579102:exon3:c.199+1G>T)	.	.	0.999981760802075	0.944
18	21723379	T	A	18	24143415	y	y	splicing	CABYR(NM_153770:exon3:c.199+2T>A;NM_153769:exon3:c.199+2T>A;NM_012189:exon3:c.199+2T>A;NM_138644:exon3:c.199+2T>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.199+2T>A;ENST00000415309:exon3:c.199+2T>A;ENST00000581872:exon3:c.199+2T>A;ENST00000584752:exon3:c.199+2T>A;ENST00000579956:exon3:c.199+2T>A;ENST00000463087:exon3:c.199+2T>A;ENST00000399499:exon3:c.199+2T>A;ENST00000581397:exon3:c.199+2T>A;ENST00000579102:exon3:c.199+2T>A)	.	.	0.999989917668626	0.926
18	21723379	T	C	18	24143415	y	y	splicing	CABYR(NM_153770:exon3:c.199+2T>C;NM_153769:exon3:c.199+2T>C;NM_012189:exon3:c.199+2T>C;NM_138644:exon3:c.199+2T>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.199+2T>C;ENST00000415309:exon3:c.199+2T>C;ENST00000581872:exon3:c.199+2T>C;ENST00000584752:exon3:c.199+2T>C;ENST00000579956:exon3:c.199+2T>C;ENST00000463087:exon3:c.199+2T>C;ENST00000399499:exon3:c.199+2T>C;ENST00000581397:exon3:c.199+2T>C;ENST00000579102:exon3:c.199+2T>C)	.	.	0.989503705830033	0.628
18	21723379	T	G	18	24143415	y	y	splicing	CABYR(NM_153770:exon3:c.199+2T>G;NM_153769:exon3:c.199+2T>G;NM_012189:exon3:c.199+2T>G;NM_138644:exon3:c.199+2T>G)	.	.	splicing	ENSG00000154040(ENST00000399496:exon3:c.199+2T>G;ENST00000415309:exon3:c.199+2T>G;ENST00000581872:exon3:c.199+2T>G;ENST00000584752:exon3:c.199+2T>G;ENST00000579956:exon3:c.199+2T>G;ENST00000463087:exon3:c.199+2T>G;ENST00000399499:exon3:c.199+2T>G;ENST00000581397:exon3:c.199+2T>G;ENST00000579102:exon3:c.199+2T>G)	.	.	0.999986903042585	0.924
18	21723380	A	C	18	24143416	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.171535454406177	0.394
18	21723380	A	G	18	24143416	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00736627569229255	0.076
18	21723380	A	T	18	24143416	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.400300014344084	0.398
18	21723381	A	C	18	24143417	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.381181637398908	0.492
18	21723381	A	G	18	24143417	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.450308965473896	0.436
18	21723381	A	T	18	24143417	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.526047988557084	0.476
18	21723382	G	A	18	24143418	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.621612643883153	0.546
18	21723382	G	C	18	24143418	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.593229604970748	0.498
18	21723382	G	T	18	24143418	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.721278770148432	0.55
18	21723383	T	A	18	24143419	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.23922198856349E-4	0.244
18	21723383	T	C	18	24143419	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00106093971744542	0.258
18	21723383	T	G	18	24143419	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.36576020285417E-4	0.15
18	21723384	A	C	18	24143420	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.83320898566216E-5	0.0
18	21723384	A	G	18	24143420	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.32129412785724E-5	0.0
18	21723384	A	T	18	24143420	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.32129412785724E-5	0.0
18	21723385	C	A	18	24143421	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.02389760049219E-5	0.008
18	21723385	C	G	18	24143421	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.02389760049219E-5	0.012
18	21723385	C	T	18	24143421	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.59011002566824E-5	0.01
18	21728527	A	C	18	24148563	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728527	A	G	18	24148563	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728527	A	T	18	24148563	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728528	C	A	18	24148564	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.47543934380021E-5	0.002
18	21728528	C	G	18	24148564	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.47543934380021E-5	0.0
18	21728528	C	T	18	24148564	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.27903246756269E-5	0.0
18	21728529	T	A	18	24148565	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728529	T	C	18	24148565	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728529	T	G	18	24148565	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728530	G	A	18	24148566	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.47543934380021E-5	0.0
18	21728530	G	C	18	24148566	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.47543934380021E-5	0.0
18	21728530	G	T	18	24148566	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.47543934380021E-5	0.0
18	21728531	A	C	18	24148567	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.002
18	21728531	A	G	18	24148567	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.002
18	21728531	A	T	18	24148567	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728532	C	A	18	24148568	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.47543934380021E-5	0.0
18	21728532	C	G	18	24148568	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.47543934380021E-5	0.0
18	21728532	C	T	18	24148568	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.47543934380021E-5	0.0
18	21728533	T	A	18	24148569	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728533	T	C	18	24148569	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.0
18	21728533	T	G	18	24148569	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.0
18	21728534	T	A	18	24148570	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.0
18	21728534	T	C	18	24148570	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.0
18	21728534	T	G	18	24148570	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.0
18	21728535	T	A	18	24148571	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.59660858139777E-5	0.0
18	21728535	T	C	18	24148571	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.59660858139777E-5	0.0
18	21728535	T	G	18	24148571	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.59660858139777E-5	0.0
18	21728536	A	C	18	24148572	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.0
18	21728536	A	G	18	24148572	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.0
18	21728536	A	T	18	24148572	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.51018776879091E-5	0.0
18	21728537	A	C	18	24148573	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	4.18372186627074E-5	0.004
18	21728537	A	G	18	24148573	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	4.18372186627074E-5	0.004
18	21728537	A	T	18	24148573	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	4.76699047081367E-5	0.006
18	21728538	G	A	18	24148574	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.45912696540297E-5	0.0
18	21728538	G	C	18	24148574	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.27903246756269E-5	0.0
18	21728538	G	T	18	24148574	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	2.27903246756269E-5	0.0
18	21728539	A	C	18	24148575	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728539	A	G	18	24148575	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728539	A	T	18	24148575	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728540	A	C	18	24148576	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728540	A	G	18	24148576	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728540	A	T	18	24148576	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	3.87733132348539E-5	0.0
18	21728687	A	C	18	24148723	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728687	A	G	18	24148723	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728687	A	T	18	24148723	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728688	T	A	18	24148724	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728688	T	C	18	24148724	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728688	T	G	18	24148724	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728689	G	A	18	24148725	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728689	G	C	18	24148725	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728689	G	T	18	24148725	n	y	intronic	CABYR	.	.	UTR5	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728690	G	A	18	24148726	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.22795060243481E-4	0.0
18	21728690	G	C	18	24148726	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	7.50050782018018E-5	0.0
18	21728690	G	T	18	24148726	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.22795060243481E-4	0.0
18	21728691	T	A	18	24148727	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.30415678721369E-4	0.0
18	21728691	T	C	18	24148727	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.86139457810685E-4	0.014
18	21728691	T	G	18	24148727	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040	.	.	1.86139457810685E-4	0.002
18	21728692	G	A	18	24148728	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728692	G	C	18	24148728	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.36507003718813E-5	0.0
18	21728692	G	T	18	24148728	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728693	A	C	18	24148729	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.47927064678143E-5	0.0
18	21728693	A	G	18	24148729	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.47927064678143E-5	0.0
18	21728693	A	T	18	24148729	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728694	G	A	18	24148730	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728694	G	C	18	24148730	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.36507003718813E-5	0.0
18	21728694	G	T	18	24148730	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728695	T	A	18	24148731	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728695	T	C	18	24148731	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.47927064678143E-5	0.0
18	21728695	T	G	18	24148731	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.47927064678143E-5	0.0
18	21728696	G	A	18	24148732	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728696	G	C	18	24148732	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.36507003718813E-5	0.004
18	21728696	G	T	18	24148732	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.93367622582027E-5	0.0
18	21728697	T	A	18	24148733	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.9537400818045E-5	0.0
18	21728697	T	C	18	24148733	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.47927064678143E-5	0.0
18	21728697	T	G	18	24148733	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.47927064678143E-5	0.0
18	21730490	C	A	18	24150526	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.58927937202005E-5	0.002
18	21730490	C	G	18	24150526	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.58927937202005E-5	0.002
18	21730490	C	T	18	24150526	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.58927937202005E-5	0.002
18	21730491	C	A	18	24150527	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.26718658278921E-5	0.002
18	21730491	C	G	18	24150527	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.26718658278921E-5	0.004
18	21730491	C	T	18	24150527	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.95735775412773E-5	0.002
18	21730492	T	A	18	24150528	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.05636076887761E-4	0.016
18	21730492	T	C	18	24150528	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.98461840472671E-4	0.012
18	21730492	T	G	18	24150528	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.98461840472671E-4	0.012
18	21730493	C	A	18	24150529	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.92786444512075E-5	0.004
18	21730493	C	G	18	24150529	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.92786444512075E-5	0.002
18	21730493	C	T	18	24150529	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.57607375837078E-5	0.008
18	21730494	T	A	18	24150530	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730494	T	C	18	24150530	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730494	T	G	18	24150530	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730495	T	A	18	24150531	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.27613057368345E-5	0.0
18	21730495	T	C	18	24150531	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.27613057368345E-5	0.022
18	21730495	T	G	18	24150531	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.27613057368345E-5	0.004
18	21730496	T	A	18	24150532	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730496	T	C	18	24150532	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730496	T	G	18	24150532	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730497	G	A	18	24150533	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	8.90177193295887E-6	0.004
18	21730497	G	C	18	24150533	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	8.90177193295887E-6	0.002
18	21730497	G	T	18	24150533	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	8.90177193295887E-6	0.002
18	21730498	A	C	18	24150534	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21730498	A	G	18	24150534	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21730498	A	T	18	24150534	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21730499	T	A	18	24150535	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.81456590373184E-4	0.06
18	21730499	T	C	18	24150535	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.02885091851015E-4	0.054
18	21730499	T	G	18	24150535	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.02885091851015E-4	0.054
18	21730500	A	C	18	24150536	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.200-2A>C;ENST00000584752:exon4:c.200-2A>C;ENST00000579956:exon4:c.200-2A>C)	.	.	2.45277156108894E-5	0.0
18	21730500	A	G	18	24150536	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.200-2A>G;ENST00000584752:exon4:c.200-2A>G;ENST00000579956:exon4:c.200-2A>G)	.	.	2.45277156108894E-5	0.0
18	21730500	A	T	18	24150536	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.200-2A>T;ENST00000584752:exon4:c.200-2A>T;ENST00000579956:exon4:c.200-2A>T)	.	.	2.45277156108894E-5	0.0
18	21730501	G	A	18	24150537	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.200-1G>A;ENST00000584752:exon4:c.200-1G>A;ENST00000579956:exon4:c.200-1G>A)	.	.	7.60815764102212E-5	0.002
18	21730501	G	C	18	24150537	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.200-1G>C;ENST00000584752:exon4:c.200-1G>C;ENST00000579956:exon4:c.200-1G>C)	.	.	7.60815764102212E-5	0.002
18	21730501	G	T	18	24150537	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.200-1G>T;ENST00000584752:exon4:c.200-1G>T;ENST00000579956:exon4:c.200-1G>T)	.	.	7.60815764102212E-5	0.002
18	21730502	A	C	18	24150538	n	y	intronic	CABYR	.	.	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000581872:exon4:c.A200C:p.D67A;ENSG00000154040:ENST00000584752:exon4:c.A200C:p.D67A;ENSG00000154040:ENST00000579956:exon4:c.A200C:p.D67A;	2.33833472525359E-5	0.002
18	21730502	A	G	18	24150538	n	y	intronic	CABYR	.	.	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000581872:exon4:c.A200G:p.D67G;ENSG00000154040:ENST00000584752:exon4:c.A200G:p.D67G;ENSG00000154040:ENST00000579956:exon4:c.A200G:p.D67G;	2.45277156108894E-5	0.002
18	21730502	A	T	18	24150538	n	y	intronic	CABYR	.	.	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000581872:exon4:c.A200T:p.D67V;ENSG00000154040:ENST00000584752:exon4:c.A200T:p.D67V;ENSG00000154040:ENST00000579956:exon4:c.A200T:p.D67V;	2.33833472525359E-5	0.002
18	21730503	T	A	18	24150539	n	y	intronic	CABYR	.	.	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000581872:exon4:c.T201A:p.D67E;ENSG00000154040:ENST00000584752:exon4:c.T201A:p.D67E;ENSG00000154040:ENST00000579956:exon4:c.T201A:p.D67E;	7.13479546036976E-5	0.072
18	21730503	T	C	18	24150539	n	y	intronic	CABYR	.	.	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000581872:exon4:c.T201C:p.D67D;ENSG00000154040:ENST00000584752:exon4:c.T201C:p.D67D;ENSG00000154040:ENST00000579956:exon4:c.T201C:p.D67D;	9.88617034369045E-6	0.0
18	21730503	T	G	18	24150539	n	y	intronic	CABYR	.	.	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000581872:exon4:c.T201G:p.D67E;ENSG00000154040:ENST00000584752:exon4:c.T201G:p.D67E;ENSG00000154040:ENST00000579956:exon4:c.T201G:p.D67E;	7.13479546036976E-5	0.008
18	21730586	A	C	18	24150622	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.48367148474546E-5	0.002
18	21730586	A	G	18	24150622	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.48367148474546E-5	0.002
18	21730586	A	T	18	24150622	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	3.52173701430229E-5	0.01
18	21730587	T	A	18	24150623	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	3.18514214212084E-4	0.176
18	21730587	T	C	18	24150623	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	3.18514214212084E-4	0.116
18	21730587	T	G	18	24150623	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	3.18514214212084E-4	0.116
18	21730588	A	C	18	24150624	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730588	A	G	18	24150624	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730588	A	T	18	24150624	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	3.09082759739449E-5	0.008
18	21730589	G	A	18	24150625	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000584752:exon4:c.286+1G>A)	.	.	7.42544334184685E-5	0.006
18	21730589	G	C	18	24150625	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000584752:exon4:c.286+1G>C)	.	.	1.71486889510802E-5	0.0
18	21730589	G	T	18	24150625	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000584752:exon4:c.286+1G>T)	.	.	1.71486889510802E-5	0.004
18	21730590	T	A	18	24150626	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000584752:exon4:c.286+2T>A)	.	.	4.32880881212684E-4	0.024
18	21730590	T	C	18	24150626	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000584752:exon4:c.286+2T>C)	.	.	4.32880881212684E-4	0.026
18	21730590	T	G	18	24150626	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000584752:exon4:c.286+2T>G)	.	.	4.32880881212684E-4	0.026
18	21730591	C	A	18	24150627	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.99153316237132E-5	0.0
18	21730591	C	G	18	24150627	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.99153316237132E-5	0.0
18	21730591	C	T	18	24150627	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.99153316237132E-5	0.0
18	21730592	T	A	18	24150628	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730592	T	C	18	24150628	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730592	T	G	18	24150628	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730593	C	A	18	24150629	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	2.02885091851015E-4	0.048
18	21730593	C	G	18	24150629	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	2.02885091851015E-4	0.048
18	21730593	C	T	18	24150629	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	2.02885091851015E-4	0.05
18	21730594	T	A	18	24150630	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	3.18514214212084E-4	0.226
18	21730594	T	C	18	24150630	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	3.18514214212084E-4	0.098
18	21730594	T	G	18	24150630	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	3.18514214212084E-4	0.096
18	21730595	G	A	18	24150631	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21730595	G	C	18	24150631	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21730595	G	T	18	24150631	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21730596	G	A	18	24150632	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.293+1G>A;ENST00000579956:exon4:c.293+1G>A)	.	.	1.71486889510802E-5	0.002
18	21730596	G	C	18	24150632	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.293+1G>C;ENST00000579956:exon4:c.293+1G>C)	.	.	1.58927937202005E-5	0.002
18	21730596	G	T	18	24150632	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.293+1G>T;ENST00000579956:exon4:c.293+1G>T)	.	.	1.58927937202005E-5	0.002
18	21730597	T	A	18	24150633	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.293+2T>A;ENST00000579956:exon4:c.293+2T>A)	.	.	3.78205327723092E-5	0.004
18	21730597	T	C	18	24150633	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.293+2T>C;ENST00000579956:exon4:c.293+2T>C)	.	.	3.31929338280547E-5	0.0
18	21730597	T	G	18	24150633	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000581872:exon4:c.293+2T>G;ENST00000579956:exon4:c.293+2T>G)	.	.	3.31929338280547E-5	0.0
18	21730598	A	C	18	24150634	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.26718658278921E-5	0.004
18	21730598	A	G	18	24150634	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.26718658278921E-5	0.004
18	21730598	A	T	18	24150634	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.26718658278921E-5	0.004
18	21730599	T	A	18	24150635	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730599	T	C	18	24150635	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730599	T	G	18	24150635	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.37501361942679E-5	0.002
18	21730600	T	A	18	24150636	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.18514214212084E-4	0.088
18	21730600	T	C	18	24150636	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.34208757508979E-4	0.082
18	21730600	T	G	18	24150636	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.34208757508979E-4	0.082
18	21730601	C	A	18	24150637	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.44750248965781E-5	0.0
18	21730601	C	G	18	24150637	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.44750248965781E-5	0.0
18	21730601	C	T	18	24150637	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.44750248965781E-5	0.0
18	21730602	T	A	18	24150638	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.07620641825897E-5	0.0
18	21730602	T	C	18	24150638	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.07620641825897E-5	0.0
18	21730602	T	G	18	24150638	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.07620641825897E-5	0.0
18	21730603	C	A	18	24150639	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.02885091851015E-4	0.048
18	21730603	C	G	18	24150639	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.02885091851015E-4	0.048
18	21730603	C	T	18	24150639	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.02885091851015E-4	0.048
18	21732610	A	C	18	24152646	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.60081151915995E-4	0.014
18	21732610	A	G	18	24152646	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.60081151915995E-4	0.016
18	21732610	A	T	18	24152646	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.60081151915995E-4	0.008
18	21732611	C	A	18	24152647	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.45277156108894E-5	0.002
18	21732611	C	G	18	24152647	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.45277156108894E-5	0.002
18	21732611	C	T	18	24152647	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.45277156108894E-5	0.002
18	21732612	G	A	18	24152648	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.30338091304305E-5	0.0
18	21732612	G	C	18	24152648	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.30338091304305E-5	0.0
18	21732612	G	T	18	24152648	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.30338091304305E-5	0.0
18	21732613	T	A	18	24152649	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.71486889510802E-5	0.002
18	21732613	T	C	18	24152649	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.58927937202005E-5	0.002
18	21732613	T	G	18	24152649	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.58927937202005E-5	0.002
18	21732614	A	C	18	24152650	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.99153316237132E-5	0.0
18	21732614	A	G	18	24152650	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.99153316237132E-5	0.0
18	21732614	A	T	18	24152650	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.99153316237132E-5	0.0
18	21732615	A	C	18	24152651	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21732615	A	G	18	24152651	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21732615	A	T	18	24152651	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.78667633506325E-5	0.002
18	21732616	T	A	18	24152652	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.06850435703539E-5	0.006
18	21732616	T	C	18	24152652	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.55663598370402E-5	0.002
18	21732616	T	G	18	24152652	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.55663598370402E-5	0.002
18	21732617	T	A	18	24152653	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.60081151915995E-4	0.004
18	21732617	T	C	18	24152653	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.81456590373184E-4	0.084
18	21732617	T	G	18	24152653	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.81456590373184E-4	0.09
18	21732618	T	A	18	24152654	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.58927937202005E-5	0.002
18	21732618	T	C	18	24152654	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.0288925866825E-5	0.002
18	21732618	T	G	18	24152654	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.58927937202005E-5	0.002
18	21732619	C	A	18	24152655	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.04290327727273E-6	0.0
18	21732619	C	G	18	24152655	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	7.04290327727273E-6	0.004
18	21732619	C	T	18	24152655	n	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.08788427788342E-5	0.0
18	21732620	A	C	18	24152656	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000579956:exon5:c.294-2A>C)	.	.	9.33930376896499E-5	0.0
18	21732620	A	G	18	24152656	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000579956:exon5:c.294-2A>G)	.	.	9.33930376896499E-5	0.0
18	21732620	A	T	18	24152656	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000579956:exon5:c.294-2A>T)	.	.	9.33930376896499E-5	0.0
18	21732621	G	A	18	24152657	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000579956:exon5:c.294-1G>A)	.	.	5.08291490468438E-5	0.008
18	21732621	G	C	18	24152657	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000579956:exon5:c.294-1G>C)	.	.	5.08291490468438E-5	0.006
18	21732621	G	T	18	24152657	n	y	intronic	CABYR	.	.	splicing	ENSG00000154040(ENST00000579956:exon5:c.294-1G>T)	.	.	5.08291490468438E-5	0.006
18	21732622	G	A	18	24152658	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	5.47959532904733E-5	0.012
18	21732622	G	C	18	24152658	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	2.30852315876377E-5	0.008
18	21732622	G	T	18	24152658	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	5.47959532904733E-5	0.012
18	21732623	T	A	18	24152659	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	6.4243997895107E-5	0.008
18	21732623	T	C	18	24152659	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.48367148474546E-5	0.002
18	21732623	T	G	18	24152659	n	y	intronic	CABYR	.	.	UTR3	ENSG00000154040	.	.	1.48367148474546E-5	0.002
18	21735653	G	A	18	24155689	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	6.02809028538697E-4	0.028
18	21735653	G	C	18	24155689	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	8.21146354081155E-5	0.002
18	21735653	G	T	18	24155689	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.53471811286677E-4	0.002
18	21735654	T	A	18	24155690	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.779264709998836	0.392
18	21735654	T	C	18	24155690	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00318409161279699	0.196
18	21735654	T	G	18	24155690	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.367644358471315	0.404
18	21735655	T	A	18	24155691	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999912656709048	0.98
18	21735655	T	C	18	24155691	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	4.61318668577907E-4	0.008
18	21735655	T	G	18	24155691	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.335189478295699	0.598
18	21735656	G	A	18	24155692	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.11542318687132E-5	0.004
18	21735656	G	C	18	24155692	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.92643800377168E-5	0.0
18	21735656	G	T	18	24155692	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.56591608872279E-5	0.008
18	21735657	T	A	18	24155693	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.209442010937698	0.326
18	21735657	T	C	18	24155693	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	8.57214271681472E-6	0.004
18	21735657	T	G	18	24155693	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00517901249934753	0.22
18	21735658	T	A	18	24155694	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00188075595052381	0.106
18	21735658	T	C	18	24155694	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	9.90035993387051E-5	0.0
18	21735658	T	G	18	24155694	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.97621974037913E-4	0.054
18	21735659	T	A	18	24155695	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.965392039924428	0.66
18	21735659	T	C	18	24155695	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00159516647138486	0.07
18	21735659	T	G	18	24155695	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.965392039924428	0.642
18	21735660	T	A	18	24155696	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.929779052123175	0.492
18	21735660	T	C	18	24155696	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0158918260754089	0.198
18	21735660	T	G	18	24155696	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.973923247467395	0.508
18	21735661	T	A	18	24155697	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0040598989692422	0.048
18	21735661	T	C	18	24155697	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00149084833372924	0.052
18	21735661	T	G	18	24155697	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00296419249946054	0.054
18	21735662	C	A	18	24155698	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.628460339424673	0.482
18	21735662	C	G	18	24155698	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.997794164646448	0.868
18	21735662	C	T	18	24155698	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.39861603880291E-4	0.014
18	21735663	A	C	18	24155699	y	y	splicing	CABYR(NM_153770:exon4:c.200-2A>C;NM_153769:exon4:c.200-2A>C;NM_153768:exon3:c.146-2A>C;NM_012189:exon4:c.200-2A>C;NM_138644:exon4:c.200-2A>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon4:c.200-2A>C;ENST00000486759:exon3:c.146-2A>C;ENST00000415309:exon4:c.200-2A>C;ENST00000581872:exon5:c.294-2A>C;ENST00000584752:exon5:c.287-2A>C;ENST00000463087:exon4:c.200-2A>C;ENST00000399499:exon4:c.200-2A>C;ENST00000581397:exon4:c.200-2A>C;ENST00000579102:exon4:c.200-2A>C)	.	.	0.999964896440643	0.934
18	21735663	A	G	18	24155699	y	y	splicing	CABYR(NM_153770:exon4:c.200-2A>G;NM_153769:exon4:c.200-2A>G;NM_153768:exon3:c.146-2A>G;NM_012189:exon4:c.200-2A>G;NM_138644:exon4:c.200-2A>G)	.	.	splicing	ENSG00000154040(ENST00000399496:exon4:c.200-2A>G;ENST00000486759:exon3:c.146-2A>G;ENST00000415309:exon4:c.200-2A>G;ENST00000581872:exon5:c.294-2A>G;ENST00000584752:exon5:c.287-2A>G;ENST00000463087:exon4:c.200-2A>G;ENST00000399499:exon4:c.200-2A>G;ENST00000581397:exon4:c.200-2A>G;ENST00000579102:exon4:c.200-2A>G)	.	.	0.999964896440643	0.934
18	21735663	A	T	18	24155699	y	y	splicing	CABYR(NM_153770:exon4:c.200-2A>T;NM_153769:exon4:c.200-2A>T;NM_153768:exon3:c.146-2A>T;NM_012189:exon4:c.200-2A>T;NM_138644:exon4:c.200-2A>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon4:c.200-2A>T;ENST00000486759:exon3:c.146-2A>T;ENST00000415309:exon4:c.200-2A>T;ENST00000581872:exon5:c.294-2A>T;ENST00000584752:exon5:c.287-2A>T;ENST00000463087:exon4:c.200-2A>T;ENST00000399499:exon4:c.200-2A>T;ENST00000581397:exon4:c.200-2A>T;ENST00000579102:exon4:c.200-2A>T)	.	.	0.999946188727699	0.936
18	21735664	G	A	18	24155700	y	y	splicing	CABYR(NM_153770:exon4:c.200-1G>A;NM_153769:exon4:c.200-1G>A;NM_153768:exon3:c.146-1G>A;NM_012189:exon4:c.200-1G>A;NM_138644:exon4:c.200-1G>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon4:c.200-1G>A;ENST00000486759:exon3:c.146-1G>A;ENST00000415309:exon4:c.200-1G>A;ENST00000581872:exon5:c.294-1G>A;ENST00000584752:exon5:c.287-1G>A;ENST00000463087:exon4:c.200-1G>A;ENST00000399499:exon4:c.200-1G>A;ENST00000581397:exon4:c.200-1G>A;ENST00000579102:exon4:c.200-1G>A)	.	.	0.99995586615188	0.94
18	21735664	G	C	18	24155700	y	y	splicing	CABYR(NM_153770:exon4:c.200-1G>C;NM_153769:exon4:c.200-1G>C;NM_153768:exon3:c.146-1G>C;NM_012189:exon4:c.200-1G>C;NM_138644:exon4:c.200-1G>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon4:c.200-1G>C;ENST00000486759:exon3:c.146-1G>C;ENST00000415309:exon4:c.200-1G>C;ENST00000581872:exon5:c.294-1G>C;ENST00000584752:exon5:c.287-1G>C;ENST00000463087:exon4:c.200-1G>C;ENST00000399499:exon4:c.200-1G>C;ENST00000581397:exon4:c.200-1G>C;ENST00000579102:exon4:c.200-1G>C)	.	.	0.999971209564868	0.938
18	21735664	G	T	18	24155700	y	y	splicing	CABYR(NM_153770:exon4:c.200-1G>T;NM_153769:exon4:c.200-1G>T;NM_153768:exon3:c.146-1G>T;NM_012189:exon4:c.200-1G>T;NM_138644:exon4:c.200-1G>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon4:c.200-1G>T;ENST00000486759:exon3:c.146-1G>T;ENST00000415309:exon4:c.200-1G>T;ENST00000581872:exon5:c.294-1G>T;ENST00000584752:exon5:c.287-1G>T;ENST00000463087:exon4:c.200-1G>T;ENST00000399499:exon4:c.200-1G>T;ENST00000581397:exon4:c.200-1G>T;ENST00000579102:exon4:c.200-1G>T)	.	.	0.999971209564868	0.938
18	21735665	T	A	18	24155701	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon4:c.T200A:p.V67E;CABYR:NM_153769:exon4:c.T200A:p.V67E;CABYR:NM_138644:exon4:c.T200A:p.V67E;CABYR:NM_153768:exon3:c.T146A:p.V49E;CABYR:NM_012189:exon4:c.T200A:p.V67E;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon4:c.T200A:p.V67E;ENSG00000154040:ENST00000579102:exon4:c.T200A:p.V67E;ENSG00000154040:ENST00000415309:exon4:c.T200A:p.V67E;ENSG00000154040:ENST00000399499:exon4:c.T200A:p.V67E;ENSG00000154040:ENST00000486759:exon3:c.T146A:p.V49E;ENSG00000154040:ENST00000399496:exon4:c.T200A:p.V67E;ENSG00000154040:ENST00000581397:exon4:c.T200A:p.V67E;	0.0070433994834337	0.206
18	21735665	T	C	18	24155701	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon4:c.T200C:p.V67A;CABYR:NM_153769:exon4:c.T200C:p.V67A;CABYR:NM_138644:exon4:c.T200C:p.V67A;CABYR:NM_153768:exon3:c.T146C:p.V49A;CABYR:NM_012189:exon4:c.T200C:p.V67A;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon4:c.T200C:p.V67A;ENSG00000154040:ENST00000579102:exon4:c.T200C:p.V67A;ENSG00000154040:ENST00000415309:exon4:c.T200C:p.V67A;ENSG00000154040:ENST00000399499:exon4:c.T200C:p.V67A;ENSG00000154040:ENST00000486759:exon3:c.T146C:p.V49A;ENSG00000154040:ENST00000399496:exon4:c.T200C:p.V67A;ENSG00000154040:ENST00000581397:exon4:c.T200C:p.V67A;	2.36531462789315E-4	0.018
18	21735665	T	G	18	24155701	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon4:c.T200G:p.V67G;CABYR:NM_153769:exon4:c.T200G:p.V67G;CABYR:NM_138644:exon4:c.T200G:p.V67G;CABYR:NM_153768:exon3:c.T146G:p.V49G;CABYR:NM_012189:exon4:c.T200G:p.V67G;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000463087:exon4:c.T200G:p.V67G;ENSG00000154040:ENST00000579102:exon4:c.T200G:p.V67G;ENSG00000154040:ENST00000415309:exon4:c.T200G:p.V67G;ENSG00000154040:ENST00000399499:exon4:c.T200G:p.V67G;ENSG00000154040:ENST00000486759:exon3:c.T146G:p.V49G;ENSG00000154040:ENST00000399496:exon4:c.T200G:p.V67G;ENSG00000154040:ENST00000581397:exon4:c.T200G:p.V67G;	0.00233848936461817	0.172
18	21735666	A	C	18	24155702	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon4:c.A201C:p.V67V;CABYR:NM_153769:exon4:c.A201C:p.V67V;CABYR:NM_138644:exon4:c.A201C:p.V67V;CABYR:NM_153768:exon3:c.A147C:p.V49V;CABYR:NM_012189:exon4:c.A201C:p.V67V;	exonic;splicing	ENSG00000154040;ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000463087:exon4:c.A201C:p.V67V;ENSG00000154040:ENST00000579102:exon4:c.A201C:p.V67V;ENSG00000154040:ENST00000415309:exon4:c.A201C:p.V67V;ENSG00000154040:ENST00000399499:exon4:c.A201C:p.V67V;ENSG00000154040:ENST00000486759:exon3:c.A147C:p.V49V;ENSG00000154040:ENST00000399496:exon4:c.A201C:p.V67V;ENSG00000154040:ENST00000581397:exon4:c.A201C:p.V67V;	7.28875244237667E-5	0.0
18	21735666	A	G	18	24155702	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon4:c.A201G:p.V67V;CABYR:NM_153769:exon4:c.A201G:p.V67V;CABYR:NM_138644:exon4:c.A201G:p.V67V;CABYR:NM_153768:exon3:c.A147G:p.V49V;CABYR:NM_012189:exon4:c.A201G:p.V67V;	exonic;splicing	ENSG00000154040;ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000463087:exon4:c.A201G:p.V67V;ENSG00000154040:ENST00000579102:exon4:c.A201G:p.V67V;ENSG00000154040:ENST00000415309:exon4:c.A201G:p.V67V;ENSG00000154040:ENST00000399499:exon4:c.A201G:p.V67V;ENSG00000154040:ENST00000486759:exon3:c.A147G:p.V49V;ENSG00000154040:ENST00000399496:exon4:c.A201G:p.V67V;ENSG00000154040:ENST00000581397:exon4:c.A201G:p.V67V;	6.26610608869829E-5	0.024
18	21735666	A	T	18	24155702	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon4:c.A201T:p.V67V;CABYR:NM_153769:exon4:c.A201T:p.V67V;CABYR:NM_138644:exon4:c.A201T:p.V67V;CABYR:NM_153768:exon3:c.A147T:p.V49V;CABYR:NM_012189:exon4:c.A201T:p.V67V;	exonic;splicing	ENSG00000154040;ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000463087:exon4:c.A201T:p.V67V;ENSG00000154040:ENST00000579102:exon4:c.A201T:p.V67V;ENSG00000154040:ENST00000415309:exon4:c.A201T:p.V67V;ENSG00000154040:ENST00000399499:exon4:c.A201T:p.V67V;ENSG00000154040:ENST00000486759:exon3:c.A147T:p.V49V;ENSG00000154040:ENST00000399496:exon4:c.A201T:p.V67V;ENSG00000154040:ENST00000581397:exon4:c.A201T:p.V67V;	3.8630166646126E-5	0.004
18	21736961	C	A	18	24156997	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	9.08866302383085E-4	0.168
18	21736961	C	G	18	24156997	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	0.00104224366103952	0.188
18	21736961	C	T	18	24156997	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	0.0440781265906509	0.226
18	21736962	A	C	18	24156998	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	0.978763935590035	0.854
18	21736962	A	G	18	24156998	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	0.988486335296204	0.926
18	21736962	A	T	18	24156998	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	0.986290085864308	0.646
18	21736963	G	A	18	24156999	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	0.982213161304173	0.94
18	21736963	G	C	18	24156999	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	0.995517054146675	0.922
18	21736963	G	T	18	24156999	y	y	UTR3	CABYR	.	.	UTR3	ENSG00000154040	.	.	0.992178774240037	0.952
18	21736964	G	A	18	24157000	y	y	splicing	CABYR(NM_153768:exon3:c.1444+1G>A;NM_012189:exon4:c.1498+1G>A)	.	.	splicing	ENSG00000154040(ENST00000486759:exon3:c.1444+1G>A;ENST00000399481:exon2:c.1204+1G>A;ENST00000463087:exon4:c.1498+1G>A;ENST00000582229:exon1:c.896+1G>A)	.	.	0.999989263107695	0.936
18	21736964	G	C	18	24157000	y	y	splicing	CABYR(NM_153768:exon3:c.1444+1G>C;NM_012189:exon4:c.1498+1G>C)	.	.	splicing	ENSG00000154040(ENST00000486759:exon3:c.1444+1G>C;ENST00000399481:exon2:c.1204+1G>C;ENST00000463087:exon4:c.1498+1G>C;ENST00000582229:exon1:c.896+1G>C)	.	.	0.999989263107695	0.936
18	21736964	G	T	18	24157000	y	y	splicing	CABYR(NM_153768:exon3:c.1444+1G>T;NM_012189:exon4:c.1498+1G>T)	.	.	splicing	ENSG00000154040(ENST00000486759:exon3:c.1444+1G>T;ENST00000399481:exon2:c.1204+1G>T;ENST00000463087:exon4:c.1498+1G>T;ENST00000582229:exon1:c.896+1G>T)	.	.	0.999989263107695	0.932
18	21736965	T	A	18	24157001	y	y	splicing	CABYR(NM_153768:exon3:c.1444+2T>A;NM_012189:exon4:c.1498+2T>A)	.	.	splicing	ENSG00000154040(ENST00000486759:exon3:c.1444+2T>A;ENST00000399481:exon2:c.1204+2T>A;ENST00000463087:exon4:c.1498+2T>A;ENST00000582229:exon1:c.896+2T>A)	.	.	0.999986607513753	0.914
18	21736965	T	C	18	24157001	y	y	splicing	CABYR(NM_153768:exon3:c.1444+2T>C;NM_012189:exon4:c.1498+2T>C)	.	.	splicing	ENSG00000154040(ENST00000486759:exon3:c.1444+2T>C;ENST00000399481:exon2:c.1204+2T>C;ENST00000463087:exon4:c.1498+2T>C;ENST00000582229:exon1:c.896+2T>C)	.	.	0.989722594634724	0.568
18	21736965	T	G	18	24157001	y	y	splicing	CABYR(NM_153768:exon3:c.1444+2T>G;NM_012189:exon4:c.1498+2T>G)	.	.	splicing	ENSG00000154040(ENST00000486759:exon3:c.1444+2T>G;ENST00000399481:exon2:c.1204+2T>G;ENST00000463087:exon4:c.1498+2T>G;ENST00000582229:exon1:c.896+2T>G)	.	.	0.999986607513753	0.916
18	21736966	A	C	18	24157002	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.998538476378928	0.954
18	21736966	A	G	18	24157002	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.928605070020252	0.508
18	21736966	A	T	18	24157002	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.995204667645361	0.908
18	21736967	A	C	18	24157003	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.983694057819948	0.836
18	21736967	A	G	18	24157003	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.996899787220389	0.87
18	21736967	A	T	18	24157003	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.995052200340563	0.858
18	21736968	G	A	18	24157004	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.999314196975924	0.822
18	21736968	G	C	18	24157004	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.984381549980071	0.76
18	21736968	G	T	18	24157004	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.990357660961448	0.672
18	21736969	A	C	18	24157005	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00142617471075103	0.028
18	21736969	A	G	18	24157005	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.2003827582649E-4	0.0
18	21736969	A	T	18	24157005	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.42348685359689E-4	0.008
18	21736970	A	C	18	24157006	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.82254846753964E-4	0.0
18	21736970	A	G	18	24157006	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.2609726694734E-4	0.004
18	21736970	A	T	18	24157006	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.2609726694734E-4	0.006
18	21736971	A	C	18	24157007	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	3.18178193740577E-4	0.018
18	21736971	A	G	18	24157007	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.32658667526046E-4	0.0
18	21736971	A	T	18	24157007	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.82254846753964E-4	0.004
18	21739424	T	A	18	24159460	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0552933316107764	0.122
18	21739424	T	C	18	24159460	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0108337090612916	0.026
18	21739424	T	G	18	24159460	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0362612858753367	0.072
18	21739425	T	A	18	24159461	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.804848051243883	0.604
18	21739425	T	C	18	24159461	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.13307983833041	0.52
18	21739425	T	G	18	24159461	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.359322590761239	0.59
18	21739426	T	A	18	24159462	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.309537852898313	0.462
18	21739426	T	C	18	24159462	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.033008139755469	0.438
18	21739426	T	G	18	24159462	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.244750388023129	0.418
18	21739427	T	A	18	24159463	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00894439872156885	0.172
18	21739427	T	C	18	24159463	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00146321341748436	0.106
18	21739427	T	G	18	24159463	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00960474836647243	0.17
18	21739428	T	A	18	24159464	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.170573737553288	0.214
18	21739428	T	C	18	24159464	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00299836936231437	0.024
18	21739428	T	G	18	24159464	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0180412696081294	0.16
18	21739429	T	A	18	24159465	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00924902784699424	0.178
18	21739429	T	C	18	24159465	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.6272941399678E-4	0.002
18	21739429	T	G	18	24159465	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00689790026118599	0.17
18	21739430	T	A	18	24159466	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.151306478460674	0.218
18	21739430	T	C	18	24159466	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00155009875661188	0.044
18	21739430	T	G	18	24159466	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0644913066175864	0.238
18	21739431	T	A	18	24159467	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.07412189636335	0.296
18	21739431	T	C	18	24159467	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.00720839669089623	0.1
18	21739431	T	G	18	24159467	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.0767736937418315	0.322
18	21739432	A	C	18	24159468	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	1.08883861523425E-4	0.0
18	21739432	A	G	18	24159468	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.17574786574569E-4	0.034
18	21739432	A	T	18	24159468	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	2.17430282899609E-4	0.018
18	21739433	T	A	18	24159469	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.085804722099002	0.296
18	21739433	T	C	18	24159469	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.001186798292067	0.016
18	21739433	T	G	18	24159469	y	y	intronic	CABYR	.	.	intronic	ENSG00000154040	.	.	0.996391021041259	0.664
18	21739434	A	C	18	24159470	y	y	splicing	CABYR(NM_153769:exon5:c.542-2A>C;NM_138643:exon3:c.248-2A>C;NM_153768:exon4:c.1445-2A>C;NM_012189:exon5:c.1499-2A>C;NM_138644:exon5:c.542-2A>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.542-2A>C;ENST00000486759:exon4:c.1445-2A>C;ENST00000399481:exon3:c.1205-2A>C;ENST00000463087:exon5:c.1499-2A>C;ENST00000327201:exon3:c.248-2A>C;ENST00000399499:exon5:c.542-2A>C;ENST00000581397:exon5:c.542-2A>C)	.	.	0.999966203349492	0.926
18	21739434	A	G	18	24159470	y	y	splicing	CABYR(NM_153769:exon5:c.542-2A>G;NM_138643:exon3:c.248-2A>G;NM_153768:exon4:c.1445-2A>G;NM_012189:exon5:c.1499-2A>G;NM_138644:exon5:c.542-2A>G)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.542-2A>G;ENST00000486759:exon4:c.1445-2A>G;ENST00000399481:exon3:c.1205-2A>G;ENST00000463087:exon5:c.1499-2A>G;ENST00000327201:exon3:c.248-2A>G;ENST00000399499:exon5:c.542-2A>G;ENST00000581397:exon5:c.542-2A>G)	.	.	0.999966203349492	0.918
18	21739434	A	T	18	24159470	y	y	splicing	CABYR(NM_153769:exon5:c.542-2A>T;NM_138643:exon3:c.248-2A>T;NM_153768:exon4:c.1445-2A>T;NM_012189:exon5:c.1499-2A>T;NM_138644:exon5:c.542-2A>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.542-2A>T;ENST00000486759:exon4:c.1445-2A>T;ENST00000399481:exon3:c.1205-2A>T;ENST00000463087:exon5:c.1499-2A>T;ENST00000327201:exon3:c.248-2A>T;ENST00000399499:exon5:c.542-2A>T;ENST00000581397:exon5:c.542-2A>T)	.	.	0.99998174402319	0.924
18	21739435	G	A	18	24159471	y	y	splicing	CABYR(NM_153769:exon5:c.542-1G>A;NM_138643:exon3:c.248-1G>A;NM_153768:exon4:c.1445-1G>A;NM_012189:exon5:c.1499-1G>A;NM_138644:exon5:c.542-1G>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.542-1G>A;ENST00000486759:exon4:c.1445-1G>A;ENST00000399481:exon3:c.1205-1G>A;ENST00000463087:exon5:c.1499-1G>A;ENST00000327201:exon3:c.248-1G>A;ENST00000399499:exon5:c.542-1G>A;ENST00000581397:exon5:c.542-1G>A)	.	.	0.999938422912956	0.948
18	21739435	G	C	18	24159471	y	y	splicing	CABYR(NM_153769:exon5:c.542-1G>C;NM_138643:exon3:c.248-1G>C;NM_153768:exon4:c.1445-1G>C;NM_012189:exon5:c.1499-1G>C;NM_138644:exon5:c.542-1G>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.542-1G>C;ENST00000486759:exon4:c.1445-1G>C;ENST00000399481:exon3:c.1205-1G>C;ENST00000463087:exon5:c.1499-1G>C;ENST00000327201:exon3:c.248-1G>C;ENST00000399499:exon5:c.542-1G>C;ENST00000581397:exon5:c.542-1G>C)	.	.	0.999938990645747	0.948
18	21739435	G	T	18	24159471	y	y	splicing	CABYR(NM_153769:exon5:c.542-1G>T;NM_138643:exon3:c.248-1G>T;NM_153768:exon4:c.1445-1G>T;NM_012189:exon5:c.1499-1G>T;NM_138644:exon5:c.542-1G>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.542-1G>T;ENST00000486759:exon4:c.1445-1G>T;ENST00000399481:exon3:c.1205-1G>T;ENST00000463087:exon5:c.1499-1G>T;ENST00000327201:exon3:c.248-1G>T;ENST00000399499:exon5:c.542-1G>T;ENST00000581397:exon5:c.542-1G>T)	.	.	0.999938990645747	0.948
18	21739436	C	A	18	24159472	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_138643:exon3:c.C248A:p.A83E;CABYR:NM_153769:exon5:c.C542A:p.A181E;CABYR:NM_138644:exon5:c.C542A:p.A181E;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.C248A:p.A83E;ENSG00000154040:ENST00000399499:exon5:c.C542A:p.A181E;ENSG00000154040:ENST00000399496:exon5:c.C542A:p.A181E;ENSG00000154040:ENST00000581397:exon5:c.C542A:p.A181E;	0.859606694434033	0.74
18	21739436	C	G	18	24159472	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_138643:exon3:c.C248G:p.A83G;CABYR:NM_153769:exon5:c.C542G:p.A181G;CABYR:NM_138644:exon5:c.C542G:p.A181G;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.C248G:p.A83G;ENSG00000154040:ENST00000399499:exon5:c.C542G:p.A181G;ENSG00000154040:ENST00000399496:exon5:c.C542G:p.A181G;ENSG00000154040:ENST00000581397:exon5:c.C542G:p.A181G;	0.00281166642833041	0.05
18	21739436	C	T	18	24159472	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_138643:exon3:c.C248T:p.A83V;CABYR:NM_153769:exon5:c.C542T:p.A181V;CABYR:NM_138644:exon5:c.C542T:p.A181V;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.C248T:p.A83V;ENSG00000154040:ENST00000399499:exon5:c.C542T:p.A181V;ENSG00000154040:ENST00000399496:exon5:c.C542T:p.A181V;ENSG00000154040:ENST00000581397:exon5:c.C542T:p.A181V;	0.927083407713731	0.818
18	21739437	A	C	18	24159473	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_138643:exon3:c.A249C:p.A83A;CABYR:NM_153769:exon5:c.A543C:p.A181A;CABYR:NM_138644:exon5:c.A543C:p.A181A;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.A249C:p.A83A;ENSG00000154040:ENST00000399499:exon5:c.A543C:p.A181A;ENSG00000154040:ENST00000399496:exon5:c.A543C:p.A181A;ENSG00000154040:ENST00000581397:exon5:c.A543C:p.A181A;	6.3035294288034E-5	0.0
18	21739437	A	G	18	24159473	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_138643:exon3:c.A249G:p.A83A;CABYR:NM_153769:exon5:c.A543G:p.A181A;CABYR:NM_138644:exon5:c.A543G:p.A181A;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.A249G:p.A83A;ENSG00000154040:ENST00000399499:exon5:c.A543G:p.A181A;ENSG00000154040:ENST00000399496:exon5:c.A543G:p.A181A;ENSG00000154040:ENST00000581397:exon5:c.A543G:p.A181A;	4.72700549041813E-5	0.006
18	21739437	A	T	18	24159473	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_138643:exon3:c.A249T:p.A83A;CABYR:NM_153769:exon5:c.A543T:p.A181A;CABYR:NM_138644:exon5:c.A543T:p.A181A;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.A249T:p.A83A;ENSG00000154040:ENST00000399499:exon5:c.A543T:p.A181A;ENSG00000154040:ENST00000399496:exon5:c.A543T:p.A181A;ENSG00000154040:ENST00000581397:exon5:c.A543T:p.A181A;	3.32878341609809E-5	0.0
18	21740031	C	A	18	24160067	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon5:c.C663A:p.N221K;CABYR:NM_138643:exon3:c.C843A:p.N281K;CABYR:NM_153769:exon5:c.C1137A:p.N379K;CABYR:NM_138644:exon5:c.C1137A:p.N379K;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.C843A:p.N281K;ENSG00000154040:ENST00000415309:exon5:c.C663A:p.N221K;ENSG00000154040:ENST00000399499:exon5:c.C1137A:p.N379K;ENSG00000154040:ENST00000399496:exon5:c.C1137A:p.N379K;ENSG00000154040:ENST00000581397:exon5:c.C1137A:p.N379K;	0.00120537252122817	0.084
18	21740031	C	G	18	24160067	y	y	exonic	CABYR	nonsynonymous SNV	CABYR:NM_153770:exon5:c.C663G:p.N221K;CABYR:NM_138643:exon3:c.C843G:p.N281K;CABYR:NM_153769:exon5:c.C1137G:p.N379K;CABYR:NM_138644:exon5:c.C1137G:p.N379K;	exonic	ENSG00000154040	nonsynonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.C843G:p.N281K;ENSG00000154040:ENST00000415309:exon5:c.C663G:p.N221K;ENSG00000154040:ENST00000399499:exon5:c.C1137G:p.N379K;ENSG00000154040:ENST00000399496:exon5:c.C1137G:p.N379K;ENSG00000154040:ENST00000581397:exon5:c.C1137G:p.N379K;	0.00400695289055368	0.038
18	21740031	C	T	18	24160067	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon5:c.C663T:p.N221N;CABYR:NM_138643:exon3:c.C843T:p.N281N;CABYR:NM_153769:exon5:c.C1137T:p.N379N;CABYR:NM_138644:exon5:c.C1137T:p.N379N;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.C843T:p.N281N;ENSG00000154040:ENST00000415309:exon5:c.C663T:p.N221N;ENSG00000154040:ENST00000399499:exon5:c.C1137T:p.N379N;ENSG00000154040:ENST00000399496:exon5:c.C1137T:p.N379N;ENSG00000154040:ENST00000581397:exon5:c.C1137T:p.N379N;	0.00531554356089527	0.25
18	21740032	T	A	18	24160068	y	y	exonic	CABYR	stoploss SNV	CABYR:NM_153770:exon5:c.T664A:p.X222R;CABYR:NM_138643:exon3:c.T844A:p.X282R;CABYR:NM_153769:exon5:c.T1138A:p.X380R;CABYR:NM_138644:exon5:c.T1138A:p.X380R;	exonic	ENSG00000154040	stoploss SNV	ENSG00000154040:ENST00000327201:exon3:c.T844A:p.X282R;ENSG00000154040:ENST00000415309:exon5:c.T664A:p.X222R;ENSG00000154040:ENST00000399499:exon5:c.T1138A:p.X380R;ENSG00000154040:ENST00000399496:exon5:c.T1138A:p.X380R;ENSG00000154040:ENST00000581397:exon5:c.T1138A:p.X380R;	0.00119813332039628	0.168
18	21740032	T	C	18	24160068	y	y	exonic	CABYR	stoploss SNV	CABYR:NM_153770:exon5:c.T664C:p.X222R;CABYR:NM_138643:exon3:c.T844C:p.X282R;CABYR:NM_153769:exon5:c.T1138C:p.X380R;CABYR:NM_138644:exon5:c.T1138C:p.X380R;	exonic	ENSG00000154040	stoploss SNV	ENSG00000154040:ENST00000327201:exon3:c.T844C:p.X282R;ENSG00000154040:ENST00000415309:exon5:c.T664C:p.X222R;ENSG00000154040:ENST00000399499:exon5:c.T1138C:p.X380R;ENSG00000154040:ENST00000399496:exon5:c.T1138C:p.X380R;ENSG00000154040:ENST00000581397:exon5:c.T1138C:p.X380R;	2.33864532809296E-4	0.014
18	21740032	T	G	18	24160068	y	y	exonic	CABYR	stoploss SNV	CABYR:NM_153770:exon5:c.T664G:p.X222G;CABYR:NM_138643:exon3:c.T844G:p.X282G;CABYR:NM_153769:exon5:c.T1138G:p.X380G;CABYR:NM_138644:exon5:c.T1138G:p.X380G;	exonic	ENSG00000154040	stoploss SNV	ENSG00000154040:ENST00000327201:exon3:c.T844G:p.X282G;ENSG00000154040:ENST00000415309:exon5:c.T664G:p.X222G;ENSG00000154040:ENST00000399499:exon5:c.T1138G:p.X380G;ENSG00000154040:ENST00000399496:exon5:c.T1138G:p.X380G;ENSG00000154040:ENST00000581397:exon5:c.T1138G:p.X380G;	3.62144706078536E-4	0.068
18	21740033	G	A	18	24160069	y	y	exonic	CABYR	synonymous SNV	CABYR:NM_153770:exon5:c.G665A:p.X222X;CABYR:NM_138643:exon3:c.G845A:p.X282X;CABYR:NM_153769:exon5:c.G1139A:p.X380X;CABYR:NM_138644:exon5:c.G1139A:p.X380X;	exonic	ENSG00000154040	synonymous SNV	ENSG00000154040:ENST00000327201:exon3:c.G845A:p.X282X;ENSG00000154040:ENST00000415309:exon5:c.G665A:p.X222X;ENSG00000154040:ENST00000399499:exon5:c.G1139A:p.X380X;ENSG00000154040:ENST00000399496:exon5:c.G1139A:p.X380X;ENSG00000154040:ENST00000581397:exon5:c.G1139A:p.X380X;	0.999844051503386	0.906
18	21740033	G	C	18	24160069	y	y	exonic	CABYR	stoploss SNV	CABYR:NM_153770:exon5:c.G665C:p.X222S;CABYR:NM_138643:exon3:c.G845C:p.X282S;CABYR:NM_153769:exon5:c.G1139C:p.X380S;CABYR:NM_138644:exon5:c.G1139C:p.X380S;	exonic	ENSG00000154040	stoploss SNV	ENSG00000154040:ENST00000327201:exon3:c.G845C:p.X282S;ENSG00000154040:ENST00000415309:exon5:c.G665C:p.X222S;ENSG00000154040:ENST00000399499:exon5:c.G1139C:p.X380S;ENSG00000154040:ENST00000399496:exon5:c.G1139C:p.X380S;ENSG00000154040:ENST00000581397:exon5:c.G1139C:p.X380S;	0.999988372343523	0.816
18	21740033	G	T	18	24160069	y	y	exonic	CABYR	stoploss SNV	CABYR:NM_153770:exon5:c.G665T:p.X222L;CABYR:NM_138643:exon3:c.G845T:p.X282L;CABYR:NM_153769:exon5:c.G1139T:p.X380L;CABYR:NM_138644:exon5:c.G1139T:p.X380L;	exonic	ENSG00000154040	stoploss SNV	ENSG00000154040:ENST00000327201:exon3:c.G845T:p.X282L;ENSG00000154040:ENST00000415309:exon5:c.G665T:p.X222L;ENSG00000154040:ENST00000399499:exon5:c.G1139T:p.X380L;ENSG00000154040:ENST00000399496:exon5:c.G1139T:p.X380L;ENSG00000154040:ENST00000581397:exon5:c.G1139T:p.X380L;	0.999640838507803	0.942
18	21740034	G	A	18	24160070	y	y	splicing	CABYR(NM_153770:exon5:c.665+1G>A;NM_153769:exon5:c.1139+1G>A;NM_138643:exon3:c.845+1G>A;NM_153768:exon4:c.2042+1G>A;NM_012189:exon5:c.2096+1G>A;NM_138644:exon5:c.1139+1G>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.1139+1G>A;ENST00000486759:exon4:c.2042+1G>A;ENST00000415309:exon5:c.665+1G>A;ENST00000463087:exon5:c.2096+1G>A;ENST00000327201:exon3:c.845+1G>A;ENST00000399499:exon5:c.1139+1G>A;ENST00000581397:exon5:c.1139+1G>A;ENST00000582229:exon2:c.1023+1G>A)	.	.	0.999961293705426	0.896
18	21740034	G	C	18	24160070	y	y	splicing	CABYR(NM_153770:exon5:c.665+1G>C;NM_153769:exon5:c.1139+1G>C;NM_138643:exon3:c.845+1G>C;NM_153768:exon4:c.2042+1G>C;NM_012189:exon5:c.2096+1G>C;NM_138644:exon5:c.1139+1G>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.1139+1G>C;ENST00000486759:exon4:c.2042+1G>C;ENST00000415309:exon5:c.665+1G>C;ENST00000463087:exon5:c.2096+1G>C;ENST00000327201:exon3:c.845+1G>C;ENST00000399499:exon5:c.1139+1G>C;ENST00000581397:exon5:c.1139+1G>C;ENST00000582229:exon2:c.1023+1G>C)	.	.	0.999939614640424	0.88
18	21740034	G	T	18	24160070	y	y	splicing	CABYR(NM_153770:exon5:c.665+1G>T;NM_153769:exon5:c.1139+1G>T;NM_138643:exon3:c.845+1G>T;NM_153768:exon4:c.2042+1G>T;NM_012189:exon5:c.2096+1G>T;NM_138644:exon5:c.1139+1G>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.1139+1G>T;ENST00000486759:exon4:c.2042+1G>T;ENST00000415309:exon5:c.665+1G>T;ENST00000463087:exon5:c.2096+1G>T;ENST00000327201:exon3:c.845+1G>T;ENST00000399499:exon5:c.1139+1G>T;ENST00000581397:exon5:c.1139+1G>T;ENST00000582229:exon2:c.1023+1G>T)	.	.	0.999939614640424	0.83
18	21740035	T	A	18	24160071	y	y	splicing	CABYR(NM_153770:exon5:c.665+2T>A;NM_153769:exon5:c.1139+2T>A;NM_138643:exon3:c.845+2T>A;NM_153768:exon4:c.2042+2T>A;NM_012189:exon5:c.2096+2T>A;NM_138644:exon5:c.1139+2T>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.1139+2T>A;ENST00000486759:exon4:c.2042+2T>A;ENST00000415309:exon5:c.665+2T>A;ENST00000463087:exon5:c.2096+2T>A;ENST00000327201:exon3:c.845+2T>A;ENST00000399499:exon5:c.1139+2T>A;ENST00000581397:exon5:c.1139+2T>A;ENST00000582229:exon2:c.1023+2T>A)	.	.	0.999944488906601	0.75
18	21740035	T	C	18	24160071	y	y	splicing	CABYR(NM_153770:exon5:c.665+2T>C;NM_153769:exon5:c.1139+2T>C;NM_138643:exon3:c.845+2T>C;NM_153768:exon4:c.2042+2T>C;NM_012189:exon5:c.2096+2T>C;NM_138644:exon5:c.1139+2T>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.1139+2T>C;ENST00000486759:exon4:c.2042+2T>C;ENST00000415309:exon5:c.665+2T>C;ENST00000463087:exon5:c.2096+2T>C;ENST00000327201:exon3:c.845+2T>C;ENST00000399499:exon5:c.1139+2T>C;ENST00000581397:exon5:c.1139+2T>C;ENST00000582229:exon2:c.1023+2T>C)	.	.	0.888492858708526	0.508
18	21740035	T	G	18	24160071	y	y	splicing	CABYR(NM_153770:exon5:c.665+2T>G;NM_153769:exon5:c.1139+2T>G;NM_138643:exon3:c.845+2T>G;NM_153768:exon4:c.2042+2T>G;NM_012189:exon5:c.2096+2T>G;NM_138644:exon5:c.1139+2T>G)	.	.	splicing	ENSG00000154040(ENST00000399496:exon5:c.1139+2T>G;ENST00000486759:exon4:c.2042+2T>G;ENST00000415309:exon5:c.665+2T>G;ENST00000463087:exon5:c.2096+2T>G;ENST00000327201:exon3:c.845+2T>G;ENST00000399499:exon5:c.1139+2T>G;ENST00000581397:exon5:c.1139+2T>G;ENST00000582229:exon2:c.1023+2T>G)	.	.	0.99992760270743	0.762
18	21740036	A	C	18	24160072	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.943123679488592	0.824
18	21740036	A	G	18	24160072	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.530404880822055	0.462
18	21740036	A	T	18	24160072	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.955870430924083	0.808
18	21740037	G	A	18	24160073	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	1.08207686324468E-4	0.056
18	21740037	G	C	18	24160073	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	1.64127558371284E-4	0.064
18	21740037	G	T	18	24160073	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	1.08207686324468E-4	0.02
18	21740038	G	A	18	24160074	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.999441349919043	0.88
18	21740038	G	C	18	24160074	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.999954299924476	0.972
18	21740038	G	T	18	24160074	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.999918655546006	0.97
18	21740039	T	A	18	24160075	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.393698443244516	0.384
18	21740039	T	C	18	24160075	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.258098771749346	0.356
18	21740039	T	G	18	24160075	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.0873285160857153	0.416
18	21740040	A	C	18	24160076	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	2.68219155180855E-5	0.0
18	21740040	A	G	18	24160076	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	9.62832907141066E-5	0.0
18	21740040	A	T	18	24160076	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	9.25645101492909E-5	0.012
18	21740041	C	A	18	24160077	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	5.22762730577078E-5	0.122
18	21740041	C	G	18	24160077	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	3.08910197099877E-5	0.122
18	21740041	C	T	18	24160077	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	4.0076341042351E-5	0.122
18	21741468	T	A	18	24161504	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.795376458254939	0.686
18	21741468	T	C	18	24161504	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	4.12207588506215E-4	0.092
18	21741468	T	G	18	24161504	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.104155499198166	0.518
18	21741469	A	C	18	24161505	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	2.79081983146384E-4	0.008
18	21741469	A	G	18	24161505	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	2.13326291999527E-4	0.008
18	21741469	A	T	18	24161505	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	5.96399616097459E-4	0.066
18	21741470	T	A	18	24161506	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.935600644745413	0.702
18	21741470	T	C	18	24161506	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.00176612626866811	0.116
18	21741470	T	G	18	24161506	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.999888461744342	0.988
18	21741471	T	A	18	24161507	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.971094909143403	0.788
18	21741471	T	C	18	24161507	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.0179806084634109	0.16
18	21741471	T	G	18	24161507	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.938408097848445	0.754
18	21741472	C	A	18	24161508	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	7.72204007559908E-4	0.066
18	21741472	C	G	18	24161508	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.00507473602699209	0.082
18	21741472	C	T	18	24161508	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	5.80793394726513E-5	0.012
18	21741473	C	A	18	24161509	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.0292772696293519	0.206
18	21741473	C	G	18	24161509	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.0646028231166803	0.28
18	21741473	C	T	18	24161509	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	9.71819796559124E-4	0.024
18	21741474	T	A	18	24161510	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.0231806805243987	0.374
18	21741474	T	C	18	24161510	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	1.9920955617261E-4	0.002
18	21741474	T	G	18	24161510	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.0491022047572924	0.358
18	21741475	A	C	18	24161511	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	1.27882327029203E-4	0.004
18	21741475	A	G	18	24161511	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	1.00390497128202E-4	0.008
18	21741475	A	T	18	24161511	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	1.52797291082986E-4	0.06
18	21741476	A	C	18	24161512	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.00812258926716882	0.106
18	21741476	A	G	18	24161512	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.985406731765937	0.734
18	21741476	A	T	18	24161512	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.0157044004339234	0.16
18	21741477	C	A	18	24161513	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.997127831910038	0.916
18	21741477	C	G	18	24161513	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.999906690327329	0.968
18	21741477	C	T	18	24161513	y	y	intronic	CABYR	.	.	ncRNA_intronic	ENSG00000265750	.	.	0.164056603879425	0.248
18	21741478	A	C	18	24161514	y	y	splicing	CABYR(NM_153770:exon6:c.666-2A>C;NM_153769:exon6:c.1140-2A>C;NM_138643:exon4:c.846-2A>C;NM_153768:exon5:c.2043-2A>C;NM_012189:exon6:c.2097-2A>C;NM_138644:exon6:c.1140-2A>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon6:c.1140-2A>C;ENST00000486759:exon5:c.2043-2A>C;ENST00000415309:exon6:c.666-2A>C;ENST00000463087:exon6:c.2097-2A>C;ENST00000327201:exon4:c.846-2A>C;ENST00000399499:exon6:c.1140-2A>C;ENST00000581397:exon6:c.1140-2A>C;ENST00000582229:exon3:c.1024-2A>C)	.	.	0.99994568797423	0.958
18	21741478	A	G	18	24161514	y	y	splicing	CABYR(NM_153770:exon6:c.666-2A>G;NM_153769:exon6:c.1140-2A>G;NM_138643:exon4:c.846-2A>G;NM_153768:exon5:c.2043-2A>G;NM_012189:exon6:c.2097-2A>G;NM_138644:exon6:c.1140-2A>G)	.	.	splicing	ENSG00000154040(ENST00000399496:exon6:c.1140-2A>G;ENST00000486759:exon5:c.2043-2A>G;ENST00000415309:exon6:c.666-2A>G;ENST00000463087:exon6:c.2097-2A>G;ENST00000327201:exon4:c.846-2A>G;ENST00000399499:exon6:c.1140-2A>G;ENST00000581397:exon6:c.1140-2A>G;ENST00000582229:exon3:c.1024-2A>G)	.	.	0.99994568797423	0.958
18	21741478	A	T	18	24161514	y	y	splicing	CABYR(NM_153770:exon6:c.666-2A>T;NM_153769:exon6:c.1140-2A>T;NM_138643:exon4:c.846-2A>T;NM_153768:exon5:c.2043-2A>T;NM_012189:exon6:c.2097-2A>T;NM_138644:exon6:c.1140-2A>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon6:c.1140-2A>T;ENST00000486759:exon5:c.2043-2A>T;ENST00000415309:exon6:c.666-2A>T;ENST00000463087:exon6:c.2097-2A>T;ENST00000327201:exon4:c.846-2A>T;ENST00000399499:exon6:c.1140-2A>T;ENST00000581397:exon6:c.1140-2A>T;ENST00000582229:exon3:c.1024-2A>T)	.	.	0.99994568797423	0.95
18	21741479	G	A	18	24161515	y	y	splicing	CABYR(NM_153770:exon6:c.666-1G>A;NM_153769:exon6:c.1140-1G>A;NM_138643:exon4:c.846-1G>A;NM_153768:exon5:c.2043-1G>A;NM_012189:exon6:c.2097-1G>A;NM_138644:exon6:c.1140-1G>A)	.	.	splicing	ENSG00000154040(ENST00000399496:exon6:c.1140-1G>A;ENST00000486759:exon5:c.2043-1G>A;ENST00000415309:exon6:c.666-1G>A;ENST00000463087:exon6:c.2097-1G>A;ENST00000327201:exon4:c.846-1G>A;ENST00000399499:exon6:c.1140-1G>A;ENST00000581397:exon6:c.1140-1G>A;ENST00000582229:exon3:c.1024-1G>A)	.	.	0.999938422912956	0.956
18	21741479	G	C	18	24161515	y	y	splicing	CABYR(NM_153770:exon6:c.666-1G>C;NM_153769:exon6:c.1140-1G>C;NM_138643:exon4:c.846-1G>C;NM_153768:exon5:c.2043-1G>C;NM_012189:exon6:c.2097-1G>C;NM_138644:exon6:c.1140-1G>C)	.	.	splicing	ENSG00000154040(ENST00000399496:exon6:c.1140-1G>C;ENST00000486759:exon5:c.2043-1G>C;ENST00000415309:exon6:c.666-1G>C;ENST00000463087:exon6:c.2097-1G>C;ENST00000327201:exon4:c.846-1G>C;ENST00000399499:exon6:c.1140-1G>C;ENST00000581397:exon6:c.1140-1G>C;ENST00000582229:exon3:c.1024-1G>C)	.	.	0.999938990645747	0.956
18	21741479	G	T	18	24161515	y	y	splicing	CABYR(NM_153770:exon6:c.666-1G>T;NM_153769:exon6:c.1140-1G>T;NM_138643:exon4:c.846-1G>T;NM_153768:exon5:c.2043-1G>T;NM_012189:exon6:c.2097-1G>T;NM_138644:exon6:c.1140-1G>T)	.	.	splicing	ENSG00000154040(ENST00000399496:exon6:c.1140-1G>T;ENST00000486759:exon5:c.2043-1G>T;ENST00000415309:exon6:c.666-1G>T;ENST00000463087:exon6:c.2097-1G>T;ENST00000327201:exon4:c.846-1G>T;ENST00000399499:exon6:c.1140-1G>T;ENST00000581397:exon6:c.1140-1G>T;ENST00000582229:exon3:c.1024-1G>T)	.	.	0.999938422912956	0.954
18	21741480	A	C	18	24161516	y	y	exonic	CABYR	stoploss SNV	CABYR:NM_153770:exon6:c.A666C:p.X222C;CABYR:NM_138643:exon4:c.A846C:p.X282C;CABYR:NM_153769:exon6:c.A1140C:p.X380C;CABYR:NM_138644:exon6:c.A1140C:p.X380C;	exonic	ENSG00000154040	stoploss SNV	ENSG00000154040:ENST00000327201:exon4:c.A846C:p.X282C;ENSG00000154040:ENST00000415309:exon6:c.A666C:p.X222C;ENSG00000154040:ENST00000399499:exon6:c.A1140C:p.X380C;ENSG00000154040:ENST00000399496:exon6:c.A1140C:p.X380C;ENSG00000154040:ENST00000581397:exon6:c.A1140C:p.X380C;	0.00414712001767834	0.138
18	21741480	A	G	18	24161516	y	y	exonic	CABYR	stoploss SNV	CABYR:NM_153770:exon6:c.A666G:p.X222W;CABYR:NM_138643:exon4:c.A846G:p.X282W;CABYR:NM_153769:exon6:c.A1140G:p.X380W;CABYR:NM_138644:exon6:c.A1140G:p.X380W;	exonic	ENSG00000154040	stoploss SNV	ENSG00000154040:ENST00000327201:exon4:c.A846G:p.X282W;ENSG00000154040:ENST00000415309:exon6:c.A666G:p.X222W;ENSG00000154040:ENST00000399499:exon6:c.A1140G:p.X380W;ENSG00000154040:ENST00000399496:exon6:c.A1140G:p.X380W;ENSG00000154040:ENST00000581397:exon6:c.A1140G:p.X380W;	2.09562936375766E-4	0.024
18	21741480	A	T	18	24161516	y	y	exonic	CABYR	stoploss SNV	CABYR:NM_153770:exon6:c.A666T:p.X222C;CABYR:NM_138643:exon4:c.A846T:p.X282C;CABYR:NM_153769:exon6:c.A1140T:p.X380C;CABYR:NM_138644:exon6:c.A1140T:p.X380C;	exonic	ENSG00000154040	stoploss SNV	ENSG00000154040:ENST00000327201:exon4:c.A846T:p.X282C;ENSG00000154040:ENST00000415309:exon6:c.A666T:p.X222C;ENSG00000154040:ENST00000399499:exon6:c.A1140T:p.X380C;ENSG00000154040:ENST00000399496:exon6:c.A1140T:p.X380C;ENSG00000154040:ENST00000581397:exon6:c.A1140T:p.X380C;	0.0161556174534433	0.17
18	21741481	T	A	18	24161517	y	y	UTR3	CABYR	.	.	ncRNA_UTR3	ENSG00000154040	.	.	0.075424821584131	0.192
18	21741481	T	C	18	24161517	y	y	UTR3	CABYR	.	.	ncRNA_UTR3	ENSG00000154040	.	.	0.0325094623515326	0.19
18	21741481	T	G	18	24161517	y	y	UTR3	CABYR	.	.	ncRNA_UTR3	ENSG00000154040	.	.	0.0685862533016735	0.184
18	21743244	A	C	18	24163280	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon28:c.T2752G:p.W918G;OSBPL1A:NM_001242508:exon16:c.T1606G:p.W536G;OSBPL1A:NM_018030:exon14:c.T1213G:p.W405G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon14:c.T1213G:p.W405G;ENSG00000141447:ENST00000578013:exon8:c.T757G:p.W253G;ENSG00000141447:ENST00000319481:exon28:c.T2752G:p.W918G;ENSG00000141447:ENST00000357041:exon16:c.T1606G:p.W536G;	0.928257989370818	0.79
18	21743244	A	G	18	24163280	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon28:c.T2752C:p.W918R;OSBPL1A:NM_001242508:exon16:c.T1606C:p.W536R;OSBPL1A:NM_018030:exon14:c.T1213C:p.W405R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon14:c.T1213C:p.W405R;ENSG00000141447:ENST00000578013:exon8:c.T757C:p.W253R;ENSG00000141447:ENST00000319481:exon28:c.T2752C:p.W918R;ENSG00000141447:ENST00000357041:exon16:c.T1606C:p.W536R;	0.928257989370818	0.81
18	21743244	A	T	18	24163280	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon28:c.T2752A:p.W918R;OSBPL1A:NM_001242508:exon16:c.T1606A:p.W536R;OSBPL1A:NM_018030:exon14:c.T1213A:p.W405R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon14:c.T1213A:p.W405R;ENSG00000141447:ENST00000578013:exon8:c.T757A:p.W253R;ENSG00000141447:ENST00000319481:exon28:c.T2752A:p.W918R;ENSG00000141447:ENST00000357041:exon16:c.T1606A:p.W536R;	0.927168985623823	0.84
18	21743245	C	A	18	24163281	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon28:c.G2751T:p.R917S;OSBPL1A:NM_001242508:exon16:c.G1605T:p.R535S;OSBPL1A:NM_018030:exon14:c.G1212T:p.R404S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon14:c.G1212T:p.R404S;ENSG00000141447:ENST00000578013:exon8:c.G756T:p.R252S;ENSG00000141447:ENST00000319481:exon28:c.G2751T:p.R917S;ENSG00000141447:ENST00000357041:exon16:c.G1605T:p.R535S;	0.999817506955682	0.958
18	21743245	C	G	18	24163281	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon28:c.G2751C:p.R917S;OSBPL1A:NM_001242508:exon16:c.G1605C:p.R535S;OSBPL1A:NM_018030:exon14:c.G1212C:p.R404S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon14:c.G1212C:p.R404S;ENSG00000141447:ENST00000578013:exon8:c.G756C:p.R252S;ENSG00000141447:ENST00000319481:exon28:c.G2751C:p.R917S;ENSG00000141447:ENST00000357041:exon16:c.G1605C:p.R535S;	0.999894318138415	0.928
18	21743245	C	T	18	24163281	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon28:c.G2751A:p.R917R;OSBPL1A:NM_001242508:exon16:c.G1605A:p.R535R;OSBPL1A:NM_018030:exon14:c.G1212A:p.R404R;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon14:c.G1212A:p.R404R;ENSG00000141447:ENST00000578013:exon8:c.G756A:p.R252R;ENSG00000141447:ENST00000319481:exon28:c.G2751A:p.R917R;ENSG00000141447:ENST00000357041:exon16:c.G1605A:p.R535R;	0.473622580565561	0.5
18	21743246	C	A	18	24163282	y	y	splicing	OSBPL1A(NM_001242508:exon17:c.1605-1G>T;NM_080597:exon29:c.2751-1G>T;NM_018030:exon15:c.1212-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon29:c.2751-1G>T;ENST00000399443:exon15:c.1212-1G>T;ENST00000357041:exon17:c.1605-1G>T;ENST00000578013:exon9:c.756-1G>T)	.	.	0.999990361384395	0.938
18	21743246	C	G	18	24163282	y	y	splicing	OSBPL1A(NM_001242508:exon17:c.1605-1G>C;NM_080597:exon29:c.2751-1G>C;NM_018030:exon15:c.1212-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon29:c.2751-1G>C;ENST00000399443:exon15:c.1212-1G>C;ENST00000357041:exon17:c.1605-1G>C;ENST00000578013:exon9:c.756-1G>C)	.	.	0.999990361384395	0.938
18	21743246	C	T	18	24163282	y	y	splicing	OSBPL1A(NM_001242508:exon17:c.1605-1G>A;NM_080597:exon29:c.2751-1G>A;NM_018030:exon15:c.1212-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon29:c.2751-1G>A;ENST00000399443:exon15:c.1212-1G>A;ENST00000357041:exon17:c.1605-1G>A;ENST00000578013:exon9:c.756-1G>A)	.	.	0.999990361384395	0.938
18	21743247	T	A	18	24163283	y	y	splicing	OSBPL1A(NM_001242508:exon17:c.1605-2A>T;NM_080597:exon29:c.2751-2A>T;NM_018030:exon15:c.1212-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon29:c.2751-2A>T;ENST00000399443:exon15:c.1212-2A>T;ENST00000357041:exon17:c.1605-2A>T;ENST00000578013:exon9:c.756-2A>T)	.	.	0.999988247793601	0.932
18	21743247	T	C	18	24163283	y	y	splicing	OSBPL1A(NM_001242508:exon17:c.1605-2A>G;NM_080597:exon29:c.2751-2A>G;NM_018030:exon15:c.1212-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon29:c.2751-2A>G;ENST00000399443:exon15:c.1212-2A>G;ENST00000357041:exon17:c.1605-2A>G;ENST00000578013:exon9:c.756-2A>G)	.	.	0.999988247793601	0.932
18	21743247	T	G	18	24163283	y	y	splicing	OSBPL1A(NM_001242508:exon17:c.1605-2A>C;NM_080597:exon29:c.2751-2A>C;NM_018030:exon15:c.1212-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon29:c.2751-2A>C;ENST00000399443:exon15:c.1212-2A>C;ENST00000357041:exon17:c.1605-2A>C;ENST00000578013:exon9:c.756-2A>C)	.	.	0.999988247793601	0.932
18	21743248	G	A	18	24163284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0710967131690731	0.142
18	21743248	G	C	18	24163284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999733692509231	0.86
18	21743248	G	T	18	24163284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.782197397629158	0.616
18	21743249	T	A	18	24163285	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00685273786133808	0.088
18	21743249	T	C	18	24163285	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.798095640724166	0.362
18	21743249	T	G	18	24163285	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00251448584150188	0.024
18	21743250	T	A	18	24163286	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.58636444476521E-5	0.042
18	21743250	T	C	18	24163286	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.98244090449573E-5	0.044
18	21743250	T	G	18	24163286	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.58636444476521E-5	0.044
18	21743251	A	C	18	24163287	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.44902404293467E-5	0.042
18	21743251	A	G	18	24163287	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.51319764089975E-5	0.004
18	21743251	A	T	18	24163287	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.22086952605656E-5	0.014
18	21743252	A	C	18	24163288	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.35505677284035E-5	0.054
18	21743252	A	G	18	24163288	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.22122000180796E-6	0.0
18	21743252	A	T	18	24163288	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.09464664856102E-4	0.078
18	21743253	A	C	18	24163289	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.07648595328363E-5	0.04
18	21743253	A	G	18	24163289	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.30081568572069E-5	0.024
18	21743253	A	T	18	24163289	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.27059129568733E-5	0.054
18	21743254	A	C	18	24163290	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.09876942760249E-4	0.036
18	21743254	A	G	18	24163290	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.16581026635165E-5	0.006
18	21743254	A	T	18	24163290	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.04944684326383E-4	0.028
18	21743255	G	A	18	24163291	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.01085973436922E-4	0.072
18	21743255	G	C	18	24163291	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.16304645427796E-4	0.06
18	21743255	G	T	18	24163291	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.97496489336861E-4	0.07
18	21743256	A	C	18	24163292	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00829240184029873	0.366
18	21743256	A	G	18	24163292	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00164230794560679	0.098
18	21743256	A	T	18	24163292	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0199779242429112	0.408
18	21743257	A	C	18	24163293	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.27333464591147E-4	0.058
18	21743257	A	G	18	24163293	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.34853381669161E-5	0.006
18	21743257	A	T	18	24163293	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.28674178404288E-4	0.058
18	21745021	G	A	18	24165057	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.64473123680481E-4	0.008
18	21745021	G	C	18	24165057	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.09897244789423E-4	0.01
18	21745021	G	T	18	24165057	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.62031921402804E-5	0.008
18	21745022	C	A	18	24165058	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00163855552982694	0.004
18	21745022	C	G	18	24165058	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00484529978663121	0.01
18	21745022	C	T	18	24165058	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00484529978663121	0.008
18	21745023	A	C	18	24165059	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.134278320855261	0.26
18	21745023	A	G	18	24165059	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0168951861737532	0.272
18	21745023	A	T	18	24165059	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.556822880281366	0.538
18	21745024	C	A	18	24165060	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999949973354383	0.8
18	21745024	C	G	18	24165060	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999716752253593	0.962
18	21745024	C	T	18	24165060	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999906276283624	0.946
18	21745025	G	A	18	24165061	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.99658888169979E-4	0.032
18	21745025	G	C	18	24165061	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.29138123349655E-4	0.062
18	21745025	G	T	18	24165061	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.39384596160014E-4	0.092
18	21745026	C	A	18	24165062	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0393374924903973	0.42
18	21745026	C	G	18	24165062	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.526877021070937	0.572
18	21745026	C	T	18	24165062	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.37608919165975E-4	0.024
18	21745027	A	C	18	24165063	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1604+2T>G;NM_080597:exon28:c.2750+2T>G;NM_018030:exon14:c.1211+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2750+2T>G;ENST00000399443:exon14:c.1211+2T>G;ENST00000357041:exon16:c.1604+2T>G;ENST00000578013:exon8:c.755+2T>G)	.	.	0.999992446697775	0.926
18	21745027	A	G	18	24165063	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1604+2T>C;NM_080597:exon28:c.2750+2T>C;NM_018030:exon14:c.1211+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2750+2T>C;ENST00000399443:exon14:c.1211+2T>C;ENST00000357041:exon16:c.1604+2T>C;ENST00000578013:exon8:c.755+2T>C)	.	.	0.999951700573546	0.868
18	21745027	A	T	18	24165063	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1604+2T>A;NM_080597:exon28:c.2750+2T>A;NM_018030:exon14:c.1211+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2750+2T>A;ENST00000399443:exon14:c.1211+2T>A;ENST00000357041:exon16:c.1604+2T>A;ENST00000578013:exon8:c.755+2T>A)	.	.	0.999992446697775	0.928
18	21745028	C	A	18	24165064	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1604+1G>T;NM_080597:exon28:c.2750+1G>T;NM_018030:exon14:c.1211+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2750+1G>T;ENST00000399443:exon14:c.1211+1G>T;ENST00000357041:exon16:c.1604+1G>T;ENST00000578013:exon8:c.755+1G>T)	.	.	0.999988247793601	0.926
18	21745028	C	G	18	24165064	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1604+1G>C;NM_080597:exon28:c.2750+1G>C;NM_018030:exon14:c.1211+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2750+1G>C;ENST00000399443:exon14:c.1211+1G>C;ENST00000357041:exon16:c.1604+1G>C;ENST00000578013:exon8:c.755+1G>C)	.	.	0.999988247793601	0.926
18	21745028	C	T	18	24165064	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1604+1G>A;NM_080597:exon28:c.2750+1G>A;NM_018030:exon14:c.1211+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2750+1G>A;ENST00000399443:exon14:c.1211+1G>A;ENST00000357041:exon16:c.1604+1G>A;ENST00000578013:exon8:c.755+1G>A)	.	.	0.999988247793601	0.926
18	21745029	C	A	18	24165065	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.G2750T:p.R917M;OSBPL1A:NM_001242508:exon15:c.G1604T:p.R535M;OSBPL1A:NM_018030:exon13:c.G1211T:p.R404M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.G1211T:p.R404M;ENSG00000141447:ENST00000578013:exon7:c.G755T:p.R252M;ENSG00000141447:ENST00000319481:exon27:c.G2750T:p.R917M;ENSG00000141447:ENST00000357041:exon15:c.G1604T:p.R535M;	0.999992860033156	0.912
18	21745029	C	G	18	24165065	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.G2750C:p.R917T;OSBPL1A:NM_001242508:exon15:c.G1604C:p.R535T;OSBPL1A:NM_018030:exon13:c.G1211C:p.R404T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.G1211C:p.R404T;ENSG00000141447:ENST00000578013:exon7:c.G755C:p.R252T;ENSG00000141447:ENST00000319481:exon27:c.G2750C:p.R917T;ENSG00000141447:ENST00000357041:exon15:c.G1604C:p.R535T;	0.999979228047422	0.986
18	21745029	C	T	18	24165065	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.G2750A:p.R917K;OSBPL1A:NM_001242508:exon15:c.G1604A:p.R535K;OSBPL1A:NM_018030:exon13:c.G1211A:p.R404K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.G1211A:p.R404K;ENSG00000141447:ENST00000578013:exon7:c.G755A:p.R252K;ENSG00000141447:ENST00000319481:exon27:c.G2750A:p.R917K;ENSG00000141447:ENST00000357041:exon15:c.G1604A:p.R535K;	0.999996914712933	0.992
18	21745030	T	A	18	24165066	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.A2749T:p.R917W;OSBPL1A:NM_001242508:exon15:c.A1603T:p.R535W;OSBPL1A:NM_018030:exon13:c.A1210T:p.R404W;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.A1210T:p.R404W;ENSG00000141447:ENST00000578013:exon7:c.A754T:p.R252W;ENSG00000141447:ENST00000319481:exon27:c.A2749T:p.R917W;ENSG00000141447:ENST00000357041:exon15:c.A1603T:p.R535W;	0.999803482820931	0.984
18	21745030	T	C	18	24165066	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.A2749G:p.R917G;OSBPL1A:NM_001242508:exon15:c.A1603G:p.R535G;OSBPL1A:NM_018030:exon13:c.A1210G:p.R404G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.A1210G:p.R404G;ENSG00000141447:ENST00000578013:exon7:c.A754G:p.R252G;ENSG00000141447:ENST00000319481:exon27:c.A2749G:p.R917G;ENSG00000141447:ENST00000357041:exon15:c.A1603G:p.R535G;	0.999852367668591	0.918
18	21745030	T	G	18	24165066	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon27:c.A2749C:p.R917R;OSBPL1A:NM_001242508:exon15:c.A1603C:p.R535R;OSBPL1A:NM_018030:exon13:c.A1210C:p.R404R;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.A1210C:p.R404R;ENSG00000141447:ENST00000578013:exon7:c.A754C:p.R252R;ENSG00000141447:ENST00000319481:exon27:c.A2749C:p.R917R;ENSG00000141447:ENST00000357041:exon15:c.A1603C:p.R535R;	0.992079066947186	0.93
18	21745031	C	A	18	24165067	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon27:c.G2748T:p.T916T;OSBPL1A:NM_001242508:exon15:c.G1602T:p.T534T;OSBPL1A:NM_018030:exon13:c.G1209T:p.T403T;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.G1209T:p.T403T;ENSG00000141447:ENST00000578013:exon7:c.G753T:p.T251T;ENSG00000141447:ENST00000319481:exon27:c.G2748T:p.T916T;ENSG00000141447:ENST00000357041:exon15:c.G1602T:p.T534T;	4.55022439634556E-4	0.034
18	21745031	C	G	18	24165067	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon27:c.G2748C:p.T916T;OSBPL1A:NM_001242508:exon15:c.G1602C:p.T534T;OSBPL1A:NM_018030:exon13:c.G1209C:p.T403T;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.G1209C:p.T403T;ENSG00000141447:ENST00000578013:exon7:c.G753C:p.T251T;ENSG00000141447:ENST00000319481:exon27:c.G2748C:p.T916T;ENSG00000141447:ENST00000357041:exon15:c.G1602C:p.T534T;	2.27028686681595E-5	0.044
18	21745031	C	T	18	24165067	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon27:c.G2748A:p.T916T;OSBPL1A:NM_001242508:exon15:c.G1602A:p.T534T;OSBPL1A:NM_018030:exon13:c.G1209A:p.T403T;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.G1209A:p.T403T;ENSG00000141447:ENST00000578013:exon7:c.G753A:p.T251T;ENSG00000141447:ENST00000319481:exon27:c.G2748A:p.T916T;ENSG00000141447:ENST00000357041:exon15:c.G1602A:p.T534T;	2.27028686681595E-5	0.0
18	21745118	A	C	18	24165154	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.T2661G:p.D887E;OSBPL1A:NM_001242508:exon15:c.T1515G:p.D505E;OSBPL1A:NM_018030:exon13:c.T1122G:p.D374E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.T1122G:p.D374E;ENSG00000141447:ENST00000578013:exon7:c.T666G:p.D222E;ENSG00000141447:ENST00000319481:exon27:c.T2661G:p.D887E;ENSG00000141447:ENST00000357041:exon15:c.T1515G:p.D505E;	0.0160078385957843	0.168
18	21745118	A	G	18	24165154	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon27:c.T2661C:p.D887D;OSBPL1A:NM_001242508:exon15:c.T1515C:p.D505D;OSBPL1A:NM_018030:exon13:c.T1122C:p.D374D;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.T1122C:p.D374D;ENSG00000141447:ENST00000578013:exon7:c.T666C:p.D222D;ENSG00000141447:ENST00000319481:exon27:c.T2661C:p.D887D;ENSG00000141447:ENST00000357041:exon15:c.T1515C:p.D505D;	0.00768131875438518	0.184
18	21745118	A	T	18	24165154	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.T2661A:p.D887E;OSBPL1A:NM_001242508:exon15:c.T1515A:p.D505E;OSBPL1A:NM_018030:exon13:c.T1122A:p.D374E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.T1122A:p.D374E;ENSG00000141447:ENST00000578013:exon7:c.T666A:p.D222E;ENSG00000141447:ENST00000319481:exon27:c.T2661A:p.D887E;ENSG00000141447:ENST00000357041:exon15:c.T1515A:p.D505E;	0.019466868650839	0.134
18	21745119	T	A	18	24165155	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.A2660T:p.D887V;OSBPL1A:NM_001242508:exon15:c.A1514T:p.D505V;OSBPL1A:NM_018030:exon13:c.A1121T:p.D374V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.A1121T:p.D374V;ENSG00000141447:ENST00000578013:exon7:c.A665T:p.D222V;ENSG00000141447:ENST00000319481:exon27:c.A2660T:p.D887V;ENSG00000141447:ENST00000357041:exon15:c.A1514T:p.D505V;	0.745384173127769	0.526
18	21745119	T	C	18	24165155	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.A2660G:p.D887G;OSBPL1A:NM_001242508:exon15:c.A1514G:p.D505G;OSBPL1A:NM_018030:exon13:c.A1121G:p.D374G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.A1121G:p.D374G;ENSG00000141447:ENST00000578013:exon7:c.A665G:p.D222G;ENSG00000141447:ENST00000319481:exon27:c.A2660G:p.D887G;ENSG00000141447:ENST00000357041:exon15:c.A1514G:p.D505G;	0.565202910852926	0.504
18	21745119	T	G	18	24165155	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon27:c.A2660C:p.D887A;OSBPL1A:NM_001242508:exon15:c.A1514C:p.D505A;OSBPL1A:NM_018030:exon13:c.A1121C:p.D374A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon13:c.A1121C:p.D374A;ENSG00000141447:ENST00000578013:exon7:c.A665C:p.D222A;ENSG00000141447:ENST00000319481:exon27:c.A2660C:p.D887A;ENSG00000141447:ENST00000357041:exon15:c.A1514C:p.D505A;	0.696129722889716	0.602
18	21745120	C	A	18	24165156	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1514-1G>T;NM_080597:exon28:c.2660-1G>T;NM_018030:exon14:c.1121-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2660-1G>T;ENST00000399443:exon14:c.1121-1G>T;ENST00000357041:exon16:c.1514-1G>T;ENST00000578013:exon8:c.665-1G>T)	.	.	0.999989072007339	0.934
18	21745120	C	G	18	24165156	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1514-1G>C;NM_080597:exon28:c.2660-1G>C;NM_018030:exon14:c.1121-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2660-1G>C;ENST00000399443:exon14:c.1121-1G>C;ENST00000357041:exon16:c.1514-1G>C;ENST00000578013:exon8:c.665-1G>C)	.	.	0.999989072007339	0.934
18	21745120	C	T	18	24165156	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1514-1G>A;NM_080597:exon28:c.2660-1G>A;NM_018030:exon14:c.1121-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2660-1G>A;ENST00000399443:exon14:c.1121-1G>A;ENST00000357041:exon16:c.1514-1G>A;ENST00000578013:exon8:c.665-1G>A)	.	.	0.999989072007339	0.934
18	21745121	T	A	18	24165157	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1514-2A>T;NM_080597:exon28:c.2660-2A>T;NM_018030:exon14:c.1121-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2660-2A>T;ENST00000399443:exon14:c.1121-2A>T;ENST00000357041:exon16:c.1514-2A>T;ENST00000578013:exon8:c.665-2A>T)	.	.	0.999988247793601	0.93
18	21745121	T	C	18	24165157	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1514-2A>G;NM_080597:exon28:c.2660-2A>G;NM_018030:exon14:c.1121-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2660-2A>G;ENST00000399443:exon14:c.1121-2A>G;ENST00000357041:exon16:c.1514-2A>G;ENST00000578013:exon8:c.665-2A>G)	.	.	0.999988247793601	0.93
18	21745121	T	G	18	24165157	y	y	splicing	OSBPL1A(NM_001242508:exon16:c.1514-2A>C;NM_080597:exon28:c.2660-2A>C;NM_018030:exon14:c.1121-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon28:c.2660-2A>C;ENST00000399443:exon14:c.1121-2A>C;ENST00000357041:exon16:c.1514-2A>C;ENST00000578013:exon8:c.665-2A>C)	.	.	0.999988247793601	0.93
18	21745122	A	C	18	24165158	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.952108224108564	0.676
18	21745122	A	G	18	24165158	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.08759289550345E-5	0.004
18	21745122	A	T	18	24165158	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00685612891423126	0.224
18	21745123	A	C	18	24165159	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00232112072394687	0.09
18	21745123	A	G	18	24165159	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.58727548231089E-5	0.018
18	21745123	A	T	18	24165159	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.15566099388102E-5	0.068
18	21745124	A	C	18	24165160	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.615980414108435	0.352
18	21745124	A	G	18	24165160	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.87907743667912E-4	0.072
18	21745124	A	T	18	24165160	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.663998375615453	0.362
18	21745125	A	C	18	24165161	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.97889388160106	0.91
18	21745125	A	G	18	24165161	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.18904403231903E-5	0.002
18	21745125	A	T	18	24165161	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00354711006758423	0.104
18	21745126	T	A	18	24165162	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.78256509178485E-5	0.018
18	21745126	T	C	18	24165162	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.62099077457597E-5	0.01
18	21745126	T	G	18	24165162	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.352712126567E-5	0.028
18	21745127	A	C	18	24165163	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.09019922653873E-4	0.052
18	21745127	A	G	18	24165163	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.17992454306276E-5	0.0
18	21745127	A	T	18	24165163	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.69293544280676E-4	0.058
18	21745128	A	C	18	24165164	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0129610721431024	0.17
18	21745128	A	G	18	24165164	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.77817752340261E-5	0.02
18	21745128	A	T	18	24165164	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00670012188695809	0.13
18	21745129	G	A	18	24165165	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.49765605432157E-5	0.0
18	21745129	G	C	18	24165165	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00112034241824568	0.052
18	21745129	G	T	18	24165165	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.63390235225788E-4	0.024
18	21745130	A	C	18	24165166	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.673986855496203	0.448
18	21745130	A	G	18	24165166	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.014133883404839	0.21
18	21745130	A	T	18	24165166	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.305004200045339	0.39
18	21745131	A	C	18	24165167	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00117803674811653	0.072
18	21745131	A	G	18	24165167	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.57123990644351E-4	0.006
18	21745131	A	T	18	24165167	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00137785386171069	0.09
18	21746535	C	A	18	24166571	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.69930370103191E-5	0.0
18	21746535	C	G	18	24166571	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.61436470647564E-5	0.0
18	21746535	C	T	18	24166571	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.61436470647564E-5	0.0
18	21746536	T	A	18	24166572	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.14535741807199E-4	0.046
18	21746536	T	C	18	24166572	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41033638070327E-4	0.006
18	21746536	T	G	18	24166572	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.0836592034692E-4	0.0
18	21746537	A	C	18	24166573	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.24249342928303E-4	0.104
18	21746537	A	G	18	24166573	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00128872926546435	0.102
18	21746537	A	T	18	24166573	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00100891939423089	0.076
18	21746538	G	A	18	24166574	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.32547347352904E-5	0.0
18	21746538	G	C	18	24166574	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.15075159122403E-5	0.09
18	21746538	G	T	18	24166574	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.19285894799578E-5	0.006
18	21746539	T	A	18	24166575	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.947113135795105	0.616
18	21746539	T	C	18	24166575	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.988547693857666	0.664
18	21746539	T	G	18	24166575	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.891009017986728	0.562
18	21746540	T	A	18	24166576	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999949208230412	0.968
18	21746540	T	C	18	24166576	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.98974713940431	0.86
18	21746540	T	G	18	24166576	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999937938119772	0.958
18	21746541	A	C	18	24166577	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1513+2T>G;NM_080597:exon27:c.2659+2T>G;NM_018030:exon13:c.1120+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2659+2T>G;ENST00000399443:exon13:c.1120+2T>G;ENST00000357041:exon15:c.1513+2T>G;ENST00000578013:exon7:c.664+2T>G)	.	.	0.999988247793601	0.93
18	21746541	A	G	18	24166577	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1513+2T>C;NM_080597:exon27:c.2659+2T>C;NM_018030:exon13:c.1120+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2659+2T>C;ENST00000399443:exon13:c.1120+2T>C;ENST00000357041:exon15:c.1513+2T>C;ENST00000578013:exon7:c.664+2T>C)	.	.	0.994669226766359	0.682
18	21746541	A	T	18	24166577	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1513+2T>A;NM_080597:exon27:c.2659+2T>A;NM_018030:exon13:c.1120+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2659+2T>A;ENST00000399443:exon13:c.1120+2T>A;ENST00000357041:exon15:c.1513+2T>A;ENST00000578013:exon7:c.664+2T>A)	.	.	0.999988247793601	0.93
18	21746542	C	A	18	24166578	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1513+1G>T;NM_080597:exon27:c.2659+1G>T;NM_018030:exon13:c.1120+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2659+1G>T;ENST00000399443:exon13:c.1120+1G>T;ENST00000357041:exon15:c.1513+1G>T;ENST00000578013:exon7:c.664+1G>T)	.	.	0.999986675681007	0.934
18	21746542	C	G	18	24166578	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1513+1G>C;NM_080597:exon27:c.2659+1G>C;NM_018030:exon13:c.1120+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2659+1G>C;ENST00000399443:exon13:c.1120+1G>C;ENST00000357041:exon15:c.1513+1G>C;ENST00000578013:exon7:c.664+1G>C)	.	.	0.999986675681007	0.934
18	21746542	C	T	18	24166578	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1513+1G>A;NM_080597:exon27:c.2659+1G>A;NM_018030:exon13:c.1120+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2659+1G>A;ENST00000399443:exon13:c.1120+1G>A;ENST00000357041:exon15:c.1513+1G>A;ENST00000578013:exon7:c.664+1G>A)	.	.	0.999986675681007	0.934
18	21746543	C	A	18	24166579	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.G2659T:p.D887Y;OSBPL1A:NM_001242508:exon14:c.G1513T:p.D505Y;OSBPL1A:NM_018030:exon12:c.G1120T:p.D374Y;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.G1120T:p.D374Y;ENSG00000141447:ENST00000578013:exon6:c.G664T:p.D222Y;ENSG00000141447:ENST00000319481:exon26:c.G2659T:p.D887Y;ENSG00000141447:ENST00000357041:exon14:c.G1513T:p.D505Y;	0.999977277538794	0.96
18	21746543	C	G	18	24166579	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.G2659C:p.D887H;OSBPL1A:NM_001242508:exon14:c.G1513C:p.D505H;OSBPL1A:NM_018030:exon12:c.G1120C:p.D374H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.G1120C:p.D374H;ENSG00000141447:ENST00000578013:exon6:c.G664C:p.D222H;ENSG00000141447:ENST00000319481:exon26:c.G2659C:p.D887H;ENSG00000141447:ENST00000357041:exon14:c.G1513C:p.D505H;	0.999996841290077	1.0
18	21746543	C	T	18	24166579	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.G2659A:p.D887N;OSBPL1A:NM_001242508:exon14:c.G1513A:p.D505N;OSBPL1A:NM_018030:exon12:c.G1120A:p.D374N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.G1120A:p.D374N;ENSG00000141447:ENST00000578013:exon6:c.G664A:p.D222N;ENSG00000141447:ENST00000319481:exon26:c.G2659A:p.D887N;ENSG00000141447:ENST00000357041:exon14:c.G1513A:p.D505N;	0.999993449494972	0.998
18	21746544	T	A	18	24166580	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon26:c.A2658T:p.I886I;OSBPL1A:NM_001242508:exon14:c.A1512T:p.I504I;OSBPL1A:NM_018030:exon12:c.A1119T:p.I373I;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.A1119T:p.I373I;ENSG00000141447:ENST00000578013:exon6:c.A663T:p.I221I;ENSG00000141447:ENST00000319481:exon26:c.A2658T:p.I886I;ENSG00000141447:ENST00000357041:exon14:c.A1512T:p.I504I;	0.926503737508003	0.668
18	21746544	T	C	18	24166580	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.A2658G:p.I886M;OSBPL1A:NM_001242508:exon14:c.A1512G:p.I504M;OSBPL1A:NM_018030:exon12:c.A1119G:p.I373M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.A1119G:p.I373M;ENSG00000141447:ENST00000578013:exon6:c.A663G:p.I221M;ENSG00000141447:ENST00000319481:exon26:c.A2658G:p.I886M;ENSG00000141447:ENST00000357041:exon14:c.A1512G:p.I504M;	0.988668489626646	0.658
18	21746544	T	G	18	24166580	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon26:c.A2658C:p.I886I;OSBPL1A:NM_001242508:exon14:c.A1512C:p.I504I;OSBPL1A:NM_018030:exon12:c.A1119C:p.I373I;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.A1119C:p.I373I;ENSG00000141447:ENST00000578013:exon6:c.A663C:p.I221I;ENSG00000141447:ENST00000319481:exon26:c.A2658C:p.I886I;ENSG00000141447:ENST00000357041:exon14:c.A1512C:p.I504I;	0.0638882539476942	0.42
18	21746545	A	C	18	24166581	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.T2657G:p.I886R;OSBPL1A:NM_001242508:exon14:c.T1511G:p.I504R;OSBPL1A:NM_018030:exon12:c.T1118G:p.I373R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.T1118G:p.I373R;ENSG00000141447:ENST00000578013:exon6:c.T662G:p.I221R;ENSG00000141447:ENST00000319481:exon26:c.T2657G:p.I886R;ENSG00000141447:ENST00000357041:exon14:c.T1511G:p.I504R;	0.842409649633153	0.728
18	21746545	A	G	18	24166581	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.T2657C:p.I886T;OSBPL1A:NM_001242508:exon14:c.T1511C:p.I504T;OSBPL1A:NM_018030:exon12:c.T1118C:p.I373T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.T1118C:p.I373T;ENSG00000141447:ENST00000578013:exon6:c.T662C:p.I221T;ENSG00000141447:ENST00000319481:exon26:c.T2657C:p.I886T;ENSG00000141447:ENST00000357041:exon14:c.T1511C:p.I504T;	0.771504804049903	0.652
18	21746545	A	T	18	24166581	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.T2657A:p.I886K;OSBPL1A:NM_001242508:exon14:c.T1511A:p.I504K;OSBPL1A:NM_018030:exon12:c.T1118A:p.I373K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.T1118A:p.I373K;ENSG00000141447:ENST00000578013:exon6:c.T662A:p.I221K;ENSG00000141447:ENST00000319481:exon26:c.T2657A:p.I886K;ENSG00000141447:ENST00000357041:exon14:c.T1511A:p.I504K;	0.771504804049903	0.66
18	21746665	A	C	18	24166701	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.T2537G:p.M846R;OSBPL1A:NM_001242508:exon14:c.T1391G:p.M464R;OSBPL1A:NM_018030:exon12:c.T998G:p.M333R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.T998G:p.M333R;ENSG00000141447:ENST00000578013:exon6:c.T542G:p.M181R;ENSG00000141447:ENST00000319481:exon26:c.T2537G:p.M846R;ENSG00000141447:ENST00000357041:exon14:c.T1391G:p.M464R;	0.0413438422864034	0.202
18	21746665	A	G	18	24166701	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.T2537C:p.M846T;OSBPL1A:NM_001242508:exon14:c.T1391C:p.M464T;OSBPL1A:NM_018030:exon12:c.T998C:p.M333T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.T998C:p.M333T;ENSG00000141447:ENST00000578013:exon6:c.T542C:p.M181T;ENSG00000141447:ENST00000319481:exon26:c.T2537C:p.M846T;ENSG00000141447:ENST00000357041:exon14:c.T1391C:p.M464T;	0.020010481229027	0.198
18	21746665	A	T	18	24166701	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.T2537A:p.M846K;OSBPL1A:NM_001242508:exon14:c.T1391A:p.M464K;OSBPL1A:NM_018030:exon12:c.T998A:p.M333K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.T998A:p.M333K;ENSG00000141447:ENST00000578013:exon6:c.T542A:p.M181K;ENSG00000141447:ENST00000319481:exon26:c.T2537A:p.M846K;ENSG00000141447:ENST00000357041:exon14:c.T1391A:p.M464K;	0.335823660225255	0.372
18	21746666	T	A	18	24166702	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.A2536T:p.M846L;OSBPL1A:NM_001242508:exon14:c.A1390T:p.M464L;OSBPL1A:NM_018030:exon12:c.A997T:p.M333L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.A997T:p.M333L;ENSG00000141447:ENST00000578013:exon6:c.A541T:p.M181L;ENSG00000141447:ENST00000319481:exon26:c.A2536T:p.M846L;ENSG00000141447:ENST00000357041:exon14:c.A1390T:p.M464L;	0.0631176916723439	0.326
18	21746666	T	C	18	24166702	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.A2536G:p.M846V;OSBPL1A:NM_001242508:exon14:c.A1390G:p.M464V;OSBPL1A:NM_018030:exon12:c.A997G:p.M333V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.A997G:p.M333V;ENSG00000141447:ENST00000578013:exon6:c.A541G:p.M181V;ENSG00000141447:ENST00000319481:exon26:c.A2536G:p.M846V;ENSG00000141447:ENST00000357041:exon14:c.A1390G:p.M464V;	0.00232017551195118	0.032
18	21746666	T	G	18	24166702	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon26:c.A2536C:p.M846L;OSBPL1A:NM_001242508:exon14:c.A1390C:p.M464L;OSBPL1A:NM_018030:exon12:c.A997C:p.M333L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon12:c.A997C:p.M333L;ENSG00000141447:ENST00000578013:exon6:c.A541C:p.M181L;ENSG00000141447:ENST00000319481:exon26:c.A2536C:p.M846L;ENSG00000141447:ENST00000357041:exon14:c.A1390C:p.M464L;	0.0503378139721046	0.208
18	21746667	C	A	18	24166703	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1390-1G>T;NM_080597:exon27:c.2536-1G>T;NM_018030:exon13:c.997-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2536-1G>T;ENST00000399443:exon13:c.997-1G>T;ENST00000357041:exon15:c.1390-1G>T;ENST00000578013:exon7:c.541-1G>T)	.	.	0.999989072007339	0.934
18	21746667	C	G	18	24166703	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1390-1G>C;NM_080597:exon27:c.2536-1G>C;NM_018030:exon13:c.997-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2536-1G>C;ENST00000399443:exon13:c.997-1G>C;ENST00000357041:exon15:c.1390-1G>C;ENST00000578013:exon7:c.541-1G>C)	.	.	0.999989072007339	0.934
18	21746667	C	T	18	24166703	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1390-1G>A;NM_080597:exon27:c.2536-1G>A;NM_018030:exon13:c.997-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2536-1G>A;ENST00000399443:exon13:c.997-1G>A;ENST00000357041:exon15:c.1390-1G>A;ENST00000578013:exon7:c.541-1G>A)	.	.	0.999989072007339	0.934
18	21746668	T	A	18	24166704	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1390-2A>T;NM_080597:exon27:c.2536-2A>T;NM_018030:exon13:c.997-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2536-2A>T;ENST00000399443:exon13:c.997-2A>T;ENST00000357041:exon15:c.1390-2A>T;ENST00000578013:exon7:c.541-2A>T)	.	.	0.999988247793601	0.93
18	21746668	T	C	18	24166704	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1390-2A>G;NM_080597:exon27:c.2536-2A>G;NM_018030:exon13:c.997-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2536-2A>G;ENST00000399443:exon13:c.997-2A>G;ENST00000357041:exon15:c.1390-2A>G;ENST00000578013:exon7:c.541-2A>G)	.	.	0.999988247793601	0.93
18	21746668	T	G	18	24166704	y	y	splicing	OSBPL1A(NM_001242508:exon15:c.1390-2A>C;NM_080597:exon27:c.2536-2A>C;NM_018030:exon13:c.997-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon27:c.2536-2A>C;ENST00000399443:exon13:c.997-2A>C;ENST00000357041:exon15:c.1390-2A>C;ENST00000578013:exon7:c.541-2A>C)	.	.	0.999988247793601	0.93
18	21746669	G	A	18	24166705	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0295753698410962	0.158
18	21746669	G	C	18	24166705	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99856020857822	0.866
18	21746669	G	T	18	24166705	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.529033003556689	0.41
18	21746670	A	C	18	24166706	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.29226268976395E-5	0.01
18	21746670	A	G	18	24166706	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.40019335559237E-4	0.0
18	21746670	A	T	18	24166706	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.4913523552405E-4	0.03
18	21746671	A	C	18	24166707	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0102047444940702	0.26
18	21746671	A	G	18	24166707	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.55472595556234E-4	0.032
18	21746671	A	T	18	24166707	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00417889909821501	0.244
18	21746672	A	C	18	24166708	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0562999249293894	0.236
18	21746672	A	G	18	24166708	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.43539373148748E-4	0.028
18	21746672	A	T	18	24166708	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0416560660057892	0.23
18	21746673	A	C	18	24166709	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.70209800071148E-4	0.032
18	21746673	A	G	18	24166709	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.0931265150323E-5	0.0
18	21746673	A	T	18	24166709	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.66015835279795E-4	0.064
18	21746674	G	A	18	24166710	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.30637696859004E-4	0.014
18	21746674	G	C	18	24166710	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.55722052321475E-4	0.082
18	21746674	G	T	18	24166710	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00201750205034725	0.086
18	21746675	A	C	18	24166711	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.32298302441922E-5	0.066
18	21746675	A	G	18	24166711	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.84874090906676E-6	0.02
18	21746675	A	T	18	24166711	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.86360918954026E-5	0.15
18	21746676	A	C	18	24166712	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0142481171391166	0.254
18	21746676	A	G	18	24166712	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00174929414853229	0.092
18	21746676	A	T	18	24166712	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0257276225213721	0.27
18	21746677	G	A	18	24166713	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.299679055443718	0.512
18	21746677	G	C	18	24166713	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.177188830333816	0.376
18	21746677	G	T	18	24166713	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.208047492381834	0.352
18	21746678	C	A	18	24166714	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.76478367577916E-5	0.116
18	21746678	C	G	18	24166714	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.14111587378742E-5	0.058
18	21746678	C	T	18	24166714	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.27953394318314E-4	0.062
18	21747285	A	C	18	24167321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.30362639426883E-5	0.0
18	21747285	A	G	18	24167321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.17727136328101E-5	0.0
18	21747285	A	T	18	24167321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.44705269443353E-5	0.0
18	21747286	G	A	18	24167322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00620129340238376	0.048
18	21747286	G	C	18	24167322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00312410174045635	0.03
18	21747286	G	T	18	24167322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00806703560238791	0.044
18	21747287	T	A	18	24167323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.49366448793925E-5	0.012
18	21747287	T	C	18	24167323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.53676212321166E-6	0.018
18	21747287	T	G	18	24167323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.47425606909912E-5	0.034
18	21747288	C	A	18	24167324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.988889599383944	0.858
18	21747288	C	G	18	24167324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.989976287194406	0.884
18	21747288	C	T	18	24167324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998913937072415	0.956
18	21747289	T	A	18	24167325	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.98051237533968	0.696
18	21747289	T	C	18	24167325	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.91726364864415	0.65
18	21747289	T	G	18	24167325	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.683796728340554	0.43
18	21747290	C	A	18	24167326	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.354423991903518	0.46
18	21747290	C	G	18	24167326	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.128394778450013	0.444
18	21747290	C	T	18	24167326	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.52344509406673E-5	0.002
18	21747291	A	C	18	24167327	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1389+2T>G;NM_080597:exon26:c.2535+2T>G;NM_018030:exon12:c.996+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2535+2T>G;ENST00000399443:exon12:c.996+2T>G;ENST00000357041:exon14:c.1389+2T>G;ENST00000578013:exon6:c.540+2T>G)	.	.	0.999988247793601	0.93
18	21747291	A	G	18	24167327	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1389+2T>C;NM_080597:exon26:c.2535+2T>C;NM_018030:exon12:c.996+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2535+2T>C;ENST00000399443:exon12:c.996+2T>C;ENST00000357041:exon14:c.1389+2T>C;ENST00000578013:exon6:c.540+2T>C)	.	.	0.999929727175276	0.862
18	21747291	A	T	18	24167327	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1389+2T>A;NM_080597:exon26:c.2535+2T>A;NM_018030:exon12:c.996+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2535+2T>A;ENST00000399443:exon12:c.996+2T>A;ENST00000357041:exon14:c.1389+2T>A;ENST00000578013:exon6:c.540+2T>A)	.	.	0.999988247793601	0.93
18	21747292	C	A	18	24167328	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1389+1G>T;NM_080597:exon26:c.2535+1G>T;NM_018030:exon12:c.996+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2535+1G>T;ENST00000399443:exon12:c.996+1G>T;ENST00000357041:exon14:c.1389+1G>T;ENST00000578013:exon6:c.540+1G>T)	.	.	0.999990361384395	0.938
18	21747292	C	G	18	24167328	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1389+1G>C;NM_080597:exon26:c.2535+1G>C;NM_018030:exon12:c.996+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2535+1G>C;ENST00000399443:exon12:c.996+1G>C;ENST00000357041:exon14:c.1389+1G>C;ENST00000578013:exon6:c.540+1G>C)	.	.	0.999990361384395	0.938
18	21747292	C	T	18	24167328	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1389+1G>A;NM_080597:exon26:c.2535+1G>A;NM_018030:exon12:c.996+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2535+1G>A;ENST00000399443:exon12:c.996+1G>A;ENST00000357041:exon14:c.1389+1G>A;ENST00000578013:exon6:c.540+1G>A)	.	.	0.999990361384395	0.938
18	21747293	C	A	18	24167329	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.G2535T:p.Q845H;OSBPL1A:NM_001242508:exon13:c.G1389T:p.Q463H;OSBPL1A:NM_018030:exon11:c.G996T:p.Q332H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.G996T:p.Q332H;ENSG00000141447:ENST00000578013:exon5:c.G540T:p.Q180H;ENSG00000141447:ENST00000319481:exon25:c.G2535T:p.Q845H;ENSG00000141447:ENST00000357041:exon13:c.G1389T:p.Q463H;	0.999982899388877	0.998
18	21747293	C	G	18	24167329	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.G2535C:p.Q845H;OSBPL1A:NM_001242508:exon13:c.G1389C:p.Q463H;OSBPL1A:NM_018030:exon11:c.G996C:p.Q332H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.G996C:p.Q332H;ENSG00000141447:ENST00000578013:exon5:c.G540C:p.Q180H;ENSG00000141447:ENST00000319481:exon25:c.G2535C:p.Q845H;ENSG00000141447:ENST00000357041:exon13:c.G1389C:p.Q463H;	0.999996276878684	0.994
18	21747293	C	T	18	24167329	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon25:c.G2535A:p.Q845Q;OSBPL1A:NM_001242508:exon13:c.G1389A:p.Q463Q;OSBPL1A:NM_018030:exon11:c.G996A:p.Q332Q;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.G996A:p.Q332Q;ENSG00000141447:ENST00000578013:exon5:c.G540A:p.Q180Q;ENSG00000141447:ENST00000319481:exon25:c.G2535A:p.Q845Q;ENSG00000141447:ENST00000357041:exon13:c.G1389A:p.Q463Q;	0.999987052695951	0.984
18	21747294	T	A	18	24167330	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.A2534T:p.Q845L;OSBPL1A:NM_001242508:exon13:c.A1388T:p.Q463L;OSBPL1A:NM_018030:exon11:c.A995T:p.Q332L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.A995T:p.Q332L;ENSG00000141447:ENST00000578013:exon5:c.A539T:p.Q180L;ENSG00000141447:ENST00000319481:exon25:c.A2534T:p.Q845L;ENSG00000141447:ENST00000357041:exon13:c.A1388T:p.Q463L;	0.997425693428075	0.974
18	21747294	T	C	18	24167330	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.A2534G:p.Q845R;OSBPL1A:NM_001242508:exon13:c.A1388G:p.Q463R;OSBPL1A:NM_018030:exon11:c.A995G:p.Q332R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.A995G:p.Q332R;ENSG00000141447:ENST00000578013:exon5:c.A539G:p.Q180R;ENSG00000141447:ENST00000319481:exon25:c.A2534G:p.Q845R;ENSG00000141447:ENST00000357041:exon13:c.A1388G:p.Q463R;	0.996860633001589	0.99
18	21747294	T	G	18	24167330	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.A2534C:p.Q845P;OSBPL1A:NM_001242508:exon13:c.A1388C:p.Q463P;OSBPL1A:NM_018030:exon11:c.A995C:p.Q332P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.A995C:p.Q332P;ENSG00000141447:ENST00000578013:exon5:c.A539C:p.Q180P;ENSG00000141447:ENST00000319481:exon25:c.A2534C:p.Q845P;ENSG00000141447:ENST00000357041:exon13:c.A1388C:p.Q463P;	0.784473963856348	0.756
18	21747295	G	A	18	24167331	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon25:c.C2533T:p.Q845X;OSBPL1A:NM_001242508:exon13:c.C1387T:p.Q463X;OSBPL1A:NM_018030:exon11:c.C994T:p.Q332X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon11:c.C994T:p.Q332X;ENSG00000141447:ENST00000578013:exon5:c.C538T:p.Q180X;ENSG00000141447:ENST00000319481:exon25:c.C2533T:p.Q845X;ENSG00000141447:ENST00000357041:exon13:c.C1387T:p.Q463X;	0.998721543244407	0.868
18	21747295	G	C	18	24167331	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.C2533G:p.Q845E;OSBPL1A:NM_001242508:exon13:c.C1387G:p.Q463E;OSBPL1A:NM_018030:exon11:c.C994G:p.Q332E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.C994G:p.Q332E;ENSG00000141447:ENST00000578013:exon5:c.C538G:p.Q180E;ENSG00000141447:ENST00000319481:exon25:c.C2533G:p.Q845E;ENSG00000141447:ENST00000357041:exon13:c.C1387G:p.Q463E;	0.86053480119732	0.624
18	21747295	G	T	18	24167331	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.C2533A:p.Q845K;OSBPL1A:NM_001242508:exon13:c.C1387A:p.Q463K;OSBPL1A:NM_018030:exon11:c.C994A:p.Q332K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.C994A:p.Q332K;ENSG00000141447:ENST00000578013:exon5:c.C538A:p.Q180K;ENSG00000141447:ENST00000319481:exon25:c.C2533A:p.Q845K;ENSG00000141447:ENST00000357041:exon13:c.C1387A:p.Q463K;	0.931182635633051	0.742
18	21747408	A	C	18	24167444	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.T2420G:p.M807R;OSBPL1A:NM_001242508:exon13:c.T1274G:p.M425R;OSBPL1A:NM_018030:exon11:c.T881G:p.M294R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.T881G:p.M294R;ENSG00000141447:ENST00000578013:exon5:c.T425G:p.M142R;ENSG00000141447:ENST00000319481:exon25:c.T2420G:p.M807R;ENSG00000141447:ENST00000357041:exon13:c.T1274G:p.M425R;	0.0017010444201598	0.012
18	21747408	A	G	18	24167444	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.T2420C:p.M807T;OSBPL1A:NM_001242508:exon13:c.T1274C:p.M425T;OSBPL1A:NM_018030:exon11:c.T881C:p.M294T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.T881C:p.M294T;ENSG00000141447:ENST00000578013:exon5:c.T425C:p.M142T;ENSG00000141447:ENST00000319481:exon25:c.T2420C:p.M807T;ENSG00000141447:ENST00000357041:exon13:c.T1274C:p.M425T;	4.82941318715057E-4	0.094
18	21747408	A	T	18	24167444	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.T2420A:p.M807K;OSBPL1A:NM_001242508:exon13:c.T1274A:p.M425K;OSBPL1A:NM_018030:exon11:c.T881A:p.M294K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.T881A:p.M294K;ENSG00000141447:ENST00000578013:exon5:c.T425A:p.M142K;ENSG00000141447:ENST00000319481:exon25:c.T2420A:p.M807K;ENSG00000141447:ENST00000357041:exon13:c.T1274A:p.M425K;	0.00765871052582658	0.056
18	21747409	T	A	18	24167445	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.A2419T:p.M807L;OSBPL1A:NM_001242508:exon13:c.A1273T:p.M425L;OSBPL1A:NM_018030:exon11:c.A880T:p.M294L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.A880T:p.M294L;ENSG00000141447:ENST00000578013:exon5:c.A424T:p.M142L;ENSG00000141447:ENST00000319481:exon25:c.A2419T:p.M807L;ENSG00000141447:ENST00000357041:exon13:c.A1273T:p.M425L;	7.60367920066881E-4	0.162
18	21747409	T	C	18	24167445	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.A2419G:p.M807V;OSBPL1A:NM_001242508:exon13:c.A1273G:p.M425V;OSBPL1A:NM_018030:exon11:c.A880G:p.M294V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.A880G:p.M294V;ENSG00000141447:ENST00000578013:exon5:c.A424G:p.M142V;ENSG00000141447:ENST00000319481:exon25:c.A2419G:p.M807V;ENSG00000141447:ENST00000357041:exon13:c.A1273G:p.M425V;	2.02134292205255E-5	0.002
18	21747409	T	G	18	24167445	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon25:c.A2419C:p.M807L;OSBPL1A:NM_001242508:exon13:c.A1273C:p.M425L;OSBPL1A:NM_018030:exon11:c.A880C:p.M294L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon11:c.A880C:p.M294L;ENSG00000141447:ENST00000578013:exon5:c.A424C:p.M142L;ENSG00000141447:ENST00000319481:exon25:c.A2419C:p.M807L;ENSG00000141447:ENST00000357041:exon13:c.A1273C:p.M425L;	7.24393482217788E-4	0.026
18	21747410	C	A	18	24167446	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1273-1G>T;NM_080597:exon26:c.2419-1G>T;NM_018030:exon12:c.880-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2419-1G>T;ENST00000399443:exon12:c.880-1G>T;ENST00000357041:exon14:c.1273-1G>T;ENST00000578013:exon6:c.424-1G>T)	.	.	0.999990361384395	0.936
18	21747410	C	G	18	24167446	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1273-1G>C;NM_080597:exon26:c.2419-1G>C;NM_018030:exon12:c.880-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2419-1G>C;ENST00000399443:exon12:c.880-1G>C;ENST00000357041:exon14:c.1273-1G>C;ENST00000578013:exon6:c.424-1G>C)	.	.	0.999990361384395	0.928
18	21747410	C	T	18	24167446	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1273-1G>A;NM_080597:exon26:c.2419-1G>A;NM_018030:exon12:c.880-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2419-1G>A;ENST00000399443:exon12:c.880-1G>A;ENST00000357041:exon14:c.1273-1G>A;ENST00000578013:exon6:c.424-1G>A)	.	.	0.999990361384395	0.936
18	21747411	T	A	18	24167447	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1273-2A>T;NM_080597:exon26:c.2419-2A>T;NM_018030:exon12:c.880-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2419-2A>T;ENST00000399443:exon12:c.880-2A>T;ENST00000357041:exon14:c.1273-2A>T;ENST00000578013:exon6:c.424-2A>T)	.	.	0.999988247793601	0.93
18	21747411	T	C	18	24167447	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1273-2A>G;NM_080597:exon26:c.2419-2A>G;NM_018030:exon12:c.880-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2419-2A>G;ENST00000399443:exon12:c.880-2A>G;ENST00000357041:exon14:c.1273-2A>G;ENST00000578013:exon6:c.424-2A>G)	.	.	0.999988247793601	0.93
18	21747411	T	G	18	24167447	y	y	splicing	OSBPL1A(NM_001242508:exon14:c.1273-2A>C;NM_080597:exon26:c.2419-2A>C;NM_018030:exon12:c.880-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon26:c.2419-2A>C;ENST00000399443:exon12:c.880-2A>C;ENST00000357041:exon14:c.1273-2A>C;ENST00000578013:exon6:c.424-2A>C)	.	.	0.999988247793601	0.93
18	21747412	A	C	18	24167448	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.987757070763627	0.714
18	21747412	A	G	18	24167448	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.99362969177359E-5	0.0
18	21747412	A	T	18	24167448	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.162290243482735	0.256
18	21747413	G	A	18	24167449	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.06690861475193E-5	0.026
18	21747413	G	C	18	24167449	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.56239553482457E-4	0.002
18	21747413	G	T	18	24167449	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.55303149332939E-4	0.016
18	21747414	A	C	18	24167450	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.820248299006931	0.728
18	21747414	A	G	18	24167450	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00118575227181518	0.034
18	21747414	A	T	18	24167450	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.869716536235157	0.678
18	21747415	A	C	18	24167451	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.211951436242885	0.4
18	21747415	A	G	18	24167451	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.69558586828752E-5	0.002
18	21747415	A	T	18	24167451	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.129894094223666	0.406
18	21747416	A	C	18	24167452	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0621013340587527	0.31
18	21747416	A	G	18	24167452	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.38397768569737E-4	0.0
18	21747416	A	T	18	24167452	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.225097702320597	0.514
18	21747417	A	C	18	24167453	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00505510761271308	0.344
18	21747417	A	G	18	24167453	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.4457456867346E-5	0.002
18	21747417	A	T	18	24167453	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0904351095042375	0.424
18	21747418	A	C	18	24167454	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00273459026862798	0.06
18	21747418	A	G	18	24167454	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.52485311360211E-4	0.01
18	21747418	A	T	18	24167454	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00256305891530636	0.05
18	21747419	C	A	18	24167455	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.03272425293411E-5	0.006
18	21747419	C	G	18	24167455	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.56227402875007E-5	0.002
18	21747419	C	T	18	24167455	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.92229620680902E-5	0.002
18	21747420	C	A	18	24167456	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.40869995623806E-5	0.062
18	21747420	C	G	18	24167456	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.45885125563418E-5	0.004
18	21747420	C	T	18	24167456	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999739011809143	0.99
18	21747421	A	C	18	24167457	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0015547228699863	0.118
18	21747421	A	G	18	24167457	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.51093950773767E-5	0.004
18	21747421	A	T	18	24167457	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.997835491087277	0.944
18	21750283	A	C	18	24170319	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.53035373535721E-4	0.006
18	21750283	A	G	18	24170319	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.10202077836335E-4	0.004
18	21750283	A	T	18	24170319	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.23627832180606E-4	0.072
18	21750284	T	A	18	24170320	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.83022943567959E-4	0.074
18	21750284	T	C	18	24170320	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.06519337966958E-4	0.05
18	21750284	T	G	18	24170320	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.62958747587579E-4	0.018
18	21750285	G	A	18	24170321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.49245232887978E-4	0.01
18	21750285	G	C	18	24170321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.76664814074143E-4	0.024
18	21750285	G	T	18	24170321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00178557492222778	0.06
18	21750286	T	A	18	24170322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00333620160549804	0.11
18	21750286	T	C	18	24170322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.04340232131528E-4	0.03
18	21750286	T	G	18	24170322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.7148387278916E-4	0.024
18	21750287	T	A	18	24170323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.973746515310169	0.804
18	21750287	T	C	18	24170323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.980703674707465	0.74
18	21750287	T	G	18	24170323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.643570876493793	0.408
18	21750288	C	A	18	24170324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.992072353095642	0.656
18	21750288	C	G	18	24170324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.954020116411593	0.664
18	21750288	C	T	18	24170324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.03328143358947E-4	0.072
18	21750289	A	C	18	24170325	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1272+2T>G;NM_080597:exon25:c.2418+2T>G;NM_018030:exon11:c.879+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2418+2T>G;ENST00000399443:exon11:c.879+2T>G;ENST00000357041:exon13:c.1272+2T>G;ENST00000578013:exon5:c.423+2T>G)	.	.	0.999990764389106	0.946
18	21750289	A	G	18	24170325	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1272+2T>C;NM_080597:exon25:c.2418+2T>C;NM_018030:exon11:c.879+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2418+2T>C;ENST00000399443:exon11:c.879+2T>C;ENST00000357041:exon13:c.1272+2T>C;ENST00000578013:exon5:c.423+2T>C)	.	.	0.999936210417551	0.884
18	21750289	A	T	18	24170325	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1272+2T>A;NM_080597:exon25:c.2418+2T>A;NM_018030:exon11:c.879+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2418+2T>A;ENST00000399443:exon11:c.879+2T>A;ENST00000357041:exon13:c.1272+2T>A;ENST00000578013:exon5:c.423+2T>A)	.	.	0.999990764389106	0.946
18	21750290	C	A	18	24170326	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1272+1G>T;NM_080597:exon25:c.2418+1G>T;NM_018030:exon11:c.879+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2418+1G>T;ENST00000399443:exon11:c.879+1G>T;ENST00000357041:exon13:c.1272+1G>T;ENST00000578013:exon5:c.423+1G>T)	.	.	0.999991562287573	0.952
18	21750290	C	G	18	24170326	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1272+1G>C;NM_080597:exon25:c.2418+1G>C;NM_018030:exon11:c.879+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2418+1G>C;ENST00000399443:exon11:c.879+1G>C;ENST00000357041:exon13:c.1272+1G>C;ENST00000578013:exon5:c.423+1G>C)	.	.	0.999991562287573	0.952
18	21750290	C	T	18	24170326	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1272+1G>A;NM_080597:exon25:c.2418+1G>A;NM_018030:exon11:c.879+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2418+1G>A;ENST00000399443:exon11:c.879+1G>A;ENST00000357041:exon13:c.1272+1G>A;ENST00000578013:exon5:c.423+1G>A)	.	.	0.999991562287573	0.952
18	21750291	C	A	18	24170327	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.G2418T:p.Q806H;OSBPL1A:NM_001242508:exon12:c.G1272T:p.Q424H;OSBPL1A:NM_018030:exon10:c.G879T:p.Q293H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.G879T:p.Q293H;ENSG00000141447:ENST00000578013:exon4:c.G423T:p.Q141H;ENSG00000141447:ENST00000319481:exon24:c.G2418T:p.Q806H;ENSG00000141447:ENST00000357041:exon12:c.G1272T:p.Q424H;	0.99999225097786	1.0
18	21750291	C	G	18	24170327	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.G2418C:p.Q806H;OSBPL1A:NM_001242508:exon12:c.G1272C:p.Q424H;OSBPL1A:NM_018030:exon10:c.G879C:p.Q293H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.G879C:p.Q293H;ENSG00000141447:ENST00000578013:exon4:c.G423C:p.Q141H;ENSG00000141447:ENST00000319481:exon24:c.G2418C:p.Q806H;ENSG00000141447:ENST00000357041:exon12:c.G1272C:p.Q424H;	0.999993181577567	1.0
18	21750291	C	T	18	24170327	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon24:c.G2418A:p.Q806Q;OSBPL1A:NM_001242508:exon12:c.G1272A:p.Q424Q;OSBPL1A:NM_018030:exon10:c.G879A:p.Q293Q;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.G879A:p.Q293Q;ENSG00000141447:ENST00000578013:exon4:c.G423A:p.Q141Q;ENSG00000141447:ENST00000319481:exon24:c.G2418A:p.Q806Q;ENSG00000141447:ENST00000357041:exon12:c.G1272A:p.Q424Q;	0.999997215589182	1.0
18	21750292	T	A	18	24170328	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.A2417T:p.Q806L;OSBPL1A:NM_001242508:exon12:c.A1271T:p.Q424L;OSBPL1A:NM_018030:exon10:c.A878T:p.Q293L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.A878T:p.Q293L;ENSG00000141447:ENST00000578013:exon4:c.A422T:p.Q141L;ENSG00000141447:ENST00000319481:exon24:c.A2417T:p.Q806L;ENSG00000141447:ENST00000357041:exon12:c.A1271T:p.Q424L;	0.99969475110386	0.946
18	21750292	T	C	18	24170328	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.A2417G:p.Q806R;OSBPL1A:NM_001242508:exon12:c.A1271G:p.Q424R;OSBPL1A:NM_018030:exon10:c.A878G:p.Q293R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.A878G:p.Q293R;ENSG00000141447:ENST00000578013:exon4:c.A422G:p.Q141R;ENSG00000141447:ENST00000319481:exon24:c.A2417G:p.Q806R;ENSG00000141447:ENST00000357041:exon12:c.A1271G:p.Q424R;	0.999603489855359	0.97
18	21750292	T	G	18	24170328	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.A2417C:p.Q806P;OSBPL1A:NM_001242508:exon12:c.A1271C:p.Q424P;OSBPL1A:NM_018030:exon10:c.A878C:p.Q293P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.A878C:p.Q293P;ENSG00000141447:ENST00000578013:exon4:c.A422C:p.Q141P;ENSG00000141447:ENST00000319481:exon24:c.A2417C:p.Q806P;ENSG00000141447:ENST00000357041:exon12:c.A1271C:p.Q424P;	0.991102162196032	0.79
18	21750293	G	A	18	24170329	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon24:c.C2416T:p.Q806X;OSBPL1A:NM_001242508:exon12:c.C1270T:p.Q424X;OSBPL1A:NM_018030:exon10:c.C877T:p.Q293X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon10:c.C877T:p.Q293X;ENSG00000141447:ENST00000578013:exon4:c.C421T:p.Q141X;ENSG00000141447:ENST00000319481:exon24:c.C2416T:p.Q806X;ENSG00000141447:ENST00000357041:exon12:c.C1270T:p.Q424X;	0.999882124120462	0.992
18	21750293	G	C	18	24170329	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.C2416G:p.Q806E;OSBPL1A:NM_001242508:exon12:c.C1270G:p.Q424E;OSBPL1A:NM_018030:exon10:c.C877G:p.Q293E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.C877G:p.Q293E;ENSG00000141447:ENST00000578013:exon4:c.C421G:p.Q141E;ENSG00000141447:ENST00000319481:exon24:c.C2416G:p.Q806E;ENSG00000141447:ENST00000357041:exon12:c.C1270G:p.Q424E;	0.95385807034013	0.68
18	21750293	G	T	18	24170329	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.C2416A:p.Q806K;OSBPL1A:NM_001242508:exon12:c.C1270A:p.Q424K;OSBPL1A:NM_018030:exon10:c.C877A:p.Q293K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.C877A:p.Q293K;ENSG00000141447:ENST00000578013:exon4:c.C421A:p.Q141K;ENSG00000141447:ENST00000319481:exon24:c.C2416A:p.Q806K;ENSG00000141447:ENST00000357041:exon12:c.C1270A:p.Q424K;	0.983474803269991	0.618
18	21750416	T	A	18	24170452	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon24:c.A2293T:p.K765X;OSBPL1A:NM_001242508:exon12:c.A1147T:p.K383X;OSBPL1A:NM_018030:exon10:c.A754T:p.K252X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon10:c.A754T:p.K252X;ENSG00000141447:ENST00000578013:exon4:c.A298T:p.K100X;ENSG00000141447:ENST00000319481:exon24:c.A2293T:p.K765X;ENSG00000141447:ENST00000357041:exon12:c.A1147T:p.K383X;	0.870500821557456	0.768
18	21750416	T	C	18	24170452	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.A2293G:p.K765E;OSBPL1A:NM_001242508:exon12:c.A1147G:p.K383E;OSBPL1A:NM_018030:exon10:c.A754G:p.K252E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.A754G:p.K252E;ENSG00000141447:ENST00000578013:exon4:c.A298G:p.K100E;ENSG00000141447:ENST00000319481:exon24:c.A2293G:p.K765E;ENSG00000141447:ENST00000357041:exon12:c.A1147G:p.K383E;	0.456638468555961	0.492
18	21750416	T	G	18	24170452	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.A2293C:p.K765Q;OSBPL1A:NM_001242508:exon12:c.A1147C:p.K383Q;OSBPL1A:NM_018030:exon10:c.A754C:p.K252Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.A754C:p.K252Q;ENSG00000141447:ENST00000578013:exon4:c.A298C:p.K100Q;ENSG00000141447:ENST00000319481:exon24:c.A2293C:p.K765Q;ENSG00000141447:ENST00000357041:exon12:c.A1147C:p.K383Q;	0.192162385899389	0.44
18	21750417	G	A	18	24170453	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon24:c.C2292T:p.S764S;OSBPL1A:NM_001242508:exon12:c.C1146T:p.S382S;OSBPL1A:NM_018030:exon10:c.C753T:p.S251S;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.C753T:p.S251S;ENSG00000141447:ENST00000578013:exon4:c.C297T:p.S99S;ENSG00000141447:ENST00000319481:exon24:c.C2292T:p.S764S;ENSG00000141447:ENST00000357041:exon12:c.C1146T:p.S382S;	0.0308448977687152	0.362
18	21750417	G	C	18	24170453	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.C2292G:p.S764R;OSBPL1A:NM_001242508:exon12:c.C1146G:p.S382R;OSBPL1A:NM_018030:exon10:c.C753G:p.S251R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.C753G:p.S251R;ENSG00000141447:ENST00000578013:exon4:c.C297G:p.S99R;ENSG00000141447:ENST00000319481:exon24:c.C2292G:p.S764R;ENSG00000141447:ENST00000357041:exon12:c.C1146G:p.S382R;	0.00249001890176284	0.12
18	21750417	G	T	18	24170453	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon24:c.C2292A:p.S764R;OSBPL1A:NM_001242508:exon12:c.C1146A:p.S382R;OSBPL1A:NM_018030:exon10:c.C753A:p.S251R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon10:c.C753A:p.S251R;ENSG00000141447:ENST00000578013:exon4:c.C297A:p.S99R;ENSG00000141447:ENST00000319481:exon24:c.C2292A:p.S764R;ENSG00000141447:ENST00000357041:exon12:c.C1146A:p.S382R;	0.00175500695395485	0.026
18	21750418	C	A	18	24170454	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1146-1G>T;NM_080597:exon25:c.2292-1G>T;NM_018030:exon11:c.753-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2292-1G>T;ENST00000399443:exon11:c.753-1G>T;ENST00000357041:exon13:c.1146-1G>T;ENST00000578013:exon5:c.297-1G>T)	.	.	0.999990361384395	0.948
18	21750418	C	G	18	24170454	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1146-1G>C;NM_080597:exon25:c.2292-1G>C;NM_018030:exon11:c.753-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2292-1G>C;ENST00000399443:exon11:c.753-1G>C;ENST00000357041:exon13:c.1146-1G>C;ENST00000578013:exon5:c.297-1G>C)	.	.	0.999990361384395	0.942
18	21750418	C	T	18	24170454	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1146-1G>A;NM_080597:exon25:c.2292-1G>A;NM_018030:exon11:c.753-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2292-1G>A;ENST00000399443:exon11:c.753-1G>A;ENST00000357041:exon13:c.1146-1G>A;ENST00000578013:exon5:c.297-1G>A)	.	.	0.999990361384395	0.948
18	21750419	T	A	18	24170455	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1146-2A>T;NM_080597:exon25:c.2292-2A>T;NM_018030:exon11:c.753-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2292-2A>T;ENST00000399443:exon11:c.753-2A>T;ENST00000357041:exon13:c.1146-2A>T;ENST00000578013:exon5:c.297-2A>T)	.	.	0.999988247793601	0.948
18	21750419	T	C	18	24170455	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1146-2A>G;NM_080597:exon25:c.2292-2A>G;NM_018030:exon11:c.753-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2292-2A>G;ENST00000399443:exon11:c.753-2A>G;ENST00000357041:exon13:c.1146-2A>G;ENST00000578013:exon5:c.297-2A>G)	.	.	0.999983636037506	0.946
18	21750419	T	G	18	24170455	y	y	splicing	OSBPL1A(NM_001242508:exon13:c.1146-2A>C;NM_080597:exon25:c.2292-2A>C;NM_018030:exon11:c.753-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon25:c.2292-2A>C;ENST00000399443:exon11:c.753-2A>C;ENST00000357041:exon13:c.1146-2A>C;ENST00000578013:exon5:c.297-2A>C)	.	.	0.999988247793601	0.948
18	21750420	G	A	18	24170456	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0430598424823627	0.196
18	21750420	G	C	18	24170456	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999341605932663	0.844
18	21750420	G	T	18	24170456	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.993826434655196	0.84
18	21750421	T	A	18	24170457	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.24352365353507E-4	0.044
18	21750421	T	C	18	24170457	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.8389607008658E-4	0.02
18	21750421	T	G	18	24170457	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.58722942309469E-4	0.07
18	21750422	C	A	18	24170458	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.66256824011048E-5	0.004
18	21750422	C	G	18	24170458	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.22054712199073E-5	0.002
18	21750422	C	T	18	24170458	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.95163708072608E-5	0.004
18	21750423	A	C	18	24170459	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00349303873836557	0.38
18	21750423	A	G	18	24170459	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.0421698437348E-5	0.022
18	21750423	A	T	18	24170459	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999883423966543	0.982
18	21750424	A	C	18	24170460	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0646721491566211	0.312
18	21750424	A	G	18	24170460	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.4865636065969E-4	0.062
18	21750424	A	T	18	24170460	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.209671288225573	0.512
18	21750425	G	A	18	24170461	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.17369481122539E-5	0.016
18	21750425	G	C	18	24170461	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00158464455506141	0.072
18	21750425	G	T	18	24170461	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.42568775356907E-4	0.16
18	21750426	A	C	18	24170462	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.288660545592647	0.498
18	21750426	A	G	18	24170462	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00201799043415169	0.116
18	21750426	A	T	18	24170462	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.844743401527424	0.554
18	21750427	A	C	18	24170463	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0124592718848937	0.218
18	21750427	A	G	18	24170463	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.10559005697063E-4	0.074
18	21750427	A	T	18	24170463	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0987715222867118	0.288
18	21750428	A	C	18	24170464	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.124446833350096	0.476
18	21750428	A	G	18	24170464	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0201969779804986	0.202
18	21750428	A	T	18	24170464	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.90181461456163	0.612
18	21750429	A	C	18	24170465	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00702491790932401	0.118
18	21750429	A	G	18	24170465	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.85087357355655E-5	0.026
18	21750429	A	T	18	24170465	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0182798452678473	0.17
18	21751365	A	C	18	24171401	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.19181801532565E-4	0.0
18	21751365	A	G	18	24171401	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.34833257774772E-4	0.024
18	21751365	A	T	18	24171401	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.04444232913489E-5	0.002
18	21751366	A	C	18	24171402	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00268573186307927	0.028
18	21751366	A	G	18	24171402	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00242008729584119	0.008
18	21751366	A	T	18	24171402	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00428736282972528	0.084
18	21751367	T	A	18	24171403	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.76621342273667E-4	0.038
18	21751367	T	C	18	24171403	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.84681509515454E-5	0.0
18	21751367	T	G	18	24171403	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.28845835177224E-4	0.022
18	21751368	T	A	18	24171404	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.5173669476057E-4	0.05
18	21751368	T	C	18	24171404	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.31144202449724E-4	0.044
18	21751368	T	G	18	24171404	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.94784152113379E-4	0.09
18	21751369	T	A	18	24171405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.770705028276873	0.418
18	21751369	T	C	18	24171405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.441695117219997	0.3
18	21751369	T	G	18	24171405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.338276676847288	0.336
18	21751370	T	A	18	24171406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999905845249581	0.946
18	21751370	T	C	18	24171406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998907991799399	0.918
18	21751370	T	G	18	24171406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999951124461784	0.988
18	21751371	A	C	18	24171407	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1145+2T>G;NM_080597:exon24:c.2291+2T>G;NM_018030:exon10:c.752+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2291+2T>G;ENST00000399443:exon10:c.752+2T>G;ENST00000357041:exon12:c.1145+2T>G;ENST00000578013:exon4:c.296+2T>G)	.	.	0.999989917668626	0.946
18	21751371	A	G	18	24171407	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1145+2T>C;NM_080597:exon24:c.2291+2T>C;NM_018030:exon10:c.752+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2291+2T>C;ENST00000399443:exon10:c.752+2T>C;ENST00000357041:exon12:c.1145+2T>C;ENST00000578013:exon4:c.296+2T>C)	.	.	0.993792413477353	0.642
18	21751371	A	T	18	24171407	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1145+2T>A;NM_080597:exon24:c.2291+2T>A;NM_018030:exon10:c.752+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2291+2T>A;ENST00000399443:exon10:c.752+2T>A;ENST00000357041:exon12:c.1145+2T>A;ENST00000578013:exon4:c.296+2T>A)	.	.	0.999989917668626	0.948
18	21751372	C	A	18	24171408	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1145+1G>T;NM_080597:exon24:c.2291+1G>T;NM_018030:exon10:c.752+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2291+1G>T;ENST00000399443:exon10:c.752+1G>T;ENST00000357041:exon12:c.1145+1G>T;ENST00000578013:exon4:c.296+1G>T)	.	.	0.999986675681007	0.952
18	21751372	C	G	18	24171408	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1145+1G>C;NM_080597:exon24:c.2291+1G>C;NM_018030:exon10:c.752+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2291+1G>C;ENST00000399443:exon10:c.752+1G>C;ENST00000357041:exon12:c.1145+1G>C;ENST00000578013:exon4:c.296+1G>C)	.	.	0.999986675681007	0.952
18	21751372	C	T	18	24171408	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1145+1G>A;NM_080597:exon24:c.2291+1G>A;NM_018030:exon10:c.752+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2291+1G>A;ENST00000399443:exon10:c.752+1G>A;ENST00000357041:exon12:c.1145+1G>A;ENST00000578013:exon4:c.296+1G>A)	.	.	0.999986675681007	0.952
18	21751373	C	A	18	24171409	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.G2291T:p.S764I;OSBPL1A:NM_001242508:exon11:c.G1145T:p.S382I;OSBPL1A:NM_018030:exon9:c.G752T:p.S251I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.G752T:p.S251I;ENSG00000141447:ENST00000578013:exon3:c.G296T:p.S99I;ENSG00000141447:ENST00000319481:exon23:c.G2291T:p.S764I;ENSG00000141447:ENST00000357041:exon11:c.G1145T:p.S382I;	0.999958793632211	1.0
18	21751373	C	G	18	24171409	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.G2291C:p.S764T;OSBPL1A:NM_001242508:exon11:c.G1145C:p.S382T;OSBPL1A:NM_018030:exon9:c.G752C:p.S251T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.G752C:p.S251T;ENSG00000141447:ENST00000578013:exon3:c.G296C:p.S99T;ENSG00000141447:ENST00000319481:exon23:c.G2291C:p.S764T;ENSG00000141447:ENST00000357041:exon11:c.G1145C:p.S382T;	0.999992097819931	1.0
18	21751373	C	T	18	24171409	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.G2291A:p.S764N;OSBPL1A:NM_001242508:exon11:c.G1145A:p.S382N;OSBPL1A:NM_018030:exon9:c.G752A:p.S251N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.G752A:p.S251N;ENSG00000141447:ENST00000578013:exon3:c.G296A:p.S99N;ENSG00000141447:ENST00000319481:exon23:c.G2291A:p.S764N;ENSG00000141447:ENST00000357041:exon11:c.G1145A:p.S382N;	0.99999437611215	0.998
18	21751374	T	A	18	24171410	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.A2290T:p.S764C;OSBPL1A:NM_001242508:exon11:c.A1144T:p.S382C;OSBPL1A:NM_018030:exon9:c.A751T:p.S251C;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A751T:p.S251C;ENSG00000141447:ENST00000578013:exon3:c.A295T:p.S99C;ENSG00000141447:ENST00000319481:exon23:c.A2290T:p.S764C;ENSG00000141447:ENST00000357041:exon11:c.A1144T:p.S382C;	0.997703419273095	0.932
18	21751374	T	C	18	24171410	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.A2290G:p.S764G;OSBPL1A:NM_001242508:exon11:c.A1144G:p.S382G;OSBPL1A:NM_018030:exon9:c.A751G:p.S251G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A751G:p.S251G;ENSG00000141447:ENST00000578013:exon3:c.A295G:p.S99G;ENSG00000141447:ENST00000319481:exon23:c.A2290G:p.S764G;ENSG00000141447:ENST00000357041:exon11:c.A1144G:p.S382G;	0.99583933376096	0.842
18	21751374	T	G	18	24171410	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.A2290C:p.S764R;OSBPL1A:NM_001242508:exon11:c.A1144C:p.S382R;OSBPL1A:NM_018030:exon9:c.A751C:p.S251R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A751C:p.S251R;ENSG00000141447:ENST00000578013:exon3:c.A295C:p.S99R;ENSG00000141447:ENST00000319481:exon23:c.A2290C:p.S764R;ENSG00000141447:ENST00000357041:exon11:c.A1144C:p.S382R;	0.989600848732328	0.782
18	21751375	T	A	18	24171411	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.A2289T:p.K763N;OSBPL1A:NM_001242508:exon11:c.A1143T:p.K381N;OSBPL1A:NM_018030:exon9:c.A750T:p.K250N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A750T:p.K250N;ENSG00000141447:ENST00000578013:exon3:c.A294T:p.K98N;ENSG00000141447:ENST00000319481:exon23:c.A2289T:p.K763N;ENSG00000141447:ENST00000357041:exon11:c.A1143T:p.K381N;	0.582366682824133	0.49
18	21751375	T	C	18	24171411	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon23:c.A2289G:p.K763K;OSBPL1A:NM_001242508:exon11:c.A1143G:p.K381K;OSBPL1A:NM_018030:exon9:c.A750G:p.K250K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A750G:p.K250K;ENSG00000141447:ENST00000578013:exon3:c.A294G:p.K98K;ENSG00000141447:ENST00000319481:exon23:c.A2289G:p.K763K;ENSG00000141447:ENST00000357041:exon11:c.A1143G:p.K381K;	0.00117128437224315	0.022
18	21751375	T	G	18	24171411	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.A2289C:p.K763N;OSBPL1A:NM_001242508:exon11:c.A1143C:p.K381N;OSBPL1A:NM_018030:exon9:c.A750C:p.K250N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A750C:p.K250N;ENSG00000141447:ENST00000578013:exon3:c.A294C:p.K98N;ENSG00000141447:ENST00000319481:exon23:c.A2289C:p.K763N;ENSG00000141447:ENST00000357041:exon11:c.A1143C:p.K381N;	0.00182566616668276	0.0
18	21751461	T	A	18	24171497	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.A2203T:p.T735S;OSBPL1A:NM_001242508:exon11:c.A1057T:p.T353S;OSBPL1A:NM_018030:exon9:c.A664T:p.T222S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A664T:p.T222S;ENSG00000141447:ENST00000578013:exon3:c.A208T:p.T70S;ENSG00000141447:ENST00000319481:exon23:c.A2203T:p.T735S;ENSG00000141447:ENST00000357041:exon11:c.A1057T:p.T353S;	0.0635127253413974	0.472
18	21751461	T	C	18	24171497	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.A2203G:p.T735A;OSBPL1A:NM_001242508:exon11:c.A1057G:p.T353A;OSBPL1A:NM_018030:exon9:c.A664G:p.T222A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A664G:p.T222A;ENSG00000141447:ENST00000578013:exon3:c.A208G:p.T70A;ENSG00000141447:ENST00000319481:exon23:c.A2203G:p.T735A;ENSG00000141447:ENST00000357041:exon11:c.A1057G:p.T353A;	0.0766288629510835	0.298
18	21751461	T	G	18	24171497	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.A2203C:p.T735P;OSBPL1A:NM_001242508:exon11:c.A1057C:p.T353P;OSBPL1A:NM_018030:exon9:c.A664C:p.T222P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.A664C:p.T222P;ENSG00000141447:ENST00000578013:exon3:c.A208C:p.T70P;ENSG00000141447:ENST00000319481:exon23:c.A2203C:p.T735P;ENSG00000141447:ENST00000357041:exon11:c.A1057C:p.T353P;	0.101283701011604	0.432
18	21751462	C	A	18	24171498	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.G2202T:p.K734N;OSBPL1A:NM_001242508:exon11:c.G1056T:p.K352N;OSBPL1A:NM_018030:exon9:c.G663T:p.K221N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.G663T:p.K221N;ENSG00000141447:ENST00000578013:exon3:c.G207T:p.K69N;ENSG00000141447:ENST00000319481:exon23:c.G2202T:p.K734N;ENSG00000141447:ENST00000357041:exon11:c.G1056T:p.K352N;	0.850681492832269	0.584
18	21751462	C	G	18	24171498	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon23:c.G2202C:p.K734N;OSBPL1A:NM_001242508:exon11:c.G1056C:p.K352N;OSBPL1A:NM_018030:exon9:c.G663C:p.K221N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.G663C:p.K221N;ENSG00000141447:ENST00000578013:exon3:c.G207C:p.K69N;ENSG00000141447:ENST00000319481:exon23:c.G2202C:p.K734N;ENSG00000141447:ENST00000357041:exon11:c.G1056C:p.K352N;	0.0999556987816795	0.434
18	21751462	C	T	18	24171498	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon23:c.G2202A:p.K734K;OSBPL1A:NM_001242508:exon11:c.G1056A:p.K352K;OSBPL1A:NM_018030:exon9:c.G663A:p.K221K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon9:c.G663A:p.K221K;ENSG00000141447:ENST00000578013:exon3:c.G207A:p.K69K;ENSG00000141447:ENST00000319481:exon23:c.G2202A:p.K734K;ENSG00000141447:ENST00000357041:exon11:c.G1056A:p.K352K;	0.10041778873602	0.288
18	21751463	C	A	18	24171499	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1056-1G>T;NM_080597:exon24:c.2202-1G>T;NM_018030:exon10:c.663-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2202-1G>T;ENST00000399443:exon10:c.663-1G>T;ENST00000357041:exon12:c.1056-1G>T;ENST00000578013:exon4:c.207-1G>T;ENST00000578055:exon7:c.247-1G>T)	.	.	0.999981760802075	0.936
18	21751463	C	G	18	24171499	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1056-1G>C;NM_080597:exon24:c.2202-1G>C;NM_018030:exon10:c.663-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2202-1G>C;ENST00000399443:exon10:c.663-1G>C;ENST00000357041:exon12:c.1056-1G>C;ENST00000578013:exon4:c.207-1G>C;ENST00000578055:exon7:c.247-1G>C)	.	.	0.999981760802075	0.936
18	21751463	C	T	18	24171499	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1056-1G>A;NM_080597:exon24:c.2202-1G>A;NM_018030:exon10:c.663-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2202-1G>A;ENST00000399443:exon10:c.663-1G>A;ENST00000357041:exon12:c.1056-1G>A;ENST00000578013:exon4:c.207-1G>A;ENST00000578055:exon7:c.247-1G>A)	.	.	0.999981760802075	0.936
18	21751464	T	A	18	24171500	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1056-2A>T;NM_080597:exon24:c.2202-2A>T;NM_018030:exon10:c.663-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2202-2A>T;ENST00000399443:exon10:c.663-2A>T;ENST00000357041:exon12:c.1056-2A>T;ENST00000578013:exon4:c.207-2A>T;ENST00000578055:exon7:c.247-2A>T)	.	.	0.999989917668626	0.926
18	21751464	T	C	18	24171500	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1056-2A>G;NM_080597:exon24:c.2202-2A>G;NM_018030:exon10:c.663-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2202-2A>G;ENST00000399443:exon10:c.663-2A>G;ENST00000357041:exon12:c.1056-2A>G;ENST00000578013:exon4:c.207-2A>G;ENST00000578055:exon7:c.247-2A>G)	.	.	0.999989917668626	0.926
18	21751464	T	G	18	24171500	y	y	splicing	OSBPL1A(NM_001242508:exon12:c.1056-2A>C;NM_080597:exon24:c.2202-2A>C;NM_018030:exon10:c.663-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon24:c.2202-2A>C;ENST00000399443:exon10:c.663-2A>C;ENST00000357041:exon12:c.1056-2A>C;ENST00000578013:exon4:c.207-2A>C;ENST00000578055:exon7:c.247-2A>C)	.	.	0.999989917668626	0.926
18	21751465	A	C	18	24171501	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.949783651607945	0.562
18	21751465	A	G	18	24171501	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.02868640679509E-5	0.03
18	21751465	A	T	18	24171501	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0016179672222119	0.112
18	21751466	T	A	18	24171502	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.52684496355201E-5	0.0
18	21751466	T	C	18	24171502	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.10209210209518E-5	0.0
18	21751466	T	G	18	24171502	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.00452787932721E-5	0.006
18	21751467	A	C	18	24171503	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.06596060288893E-4	0.08
18	21751467	A	G	18	24171503	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.74595985950812E-5	0.0
18	21751467	A	T	18	24171503	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.97464590997541E-5	0.03
18	21751468	A	C	18	24171504	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00454309144981829	0.186
18	21751468	A	G	18	24171504	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.59162386973524E-4	0.008
18	21751468	A	T	18	24171504	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00144863392292571	0.112
18	21751469	A	C	18	24171505	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.52035682621536E-4	0.084
18	21751469	A	G	18	24171505	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.11760247233801E-4	0.008
18	21751469	A	T	18	24171505	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0032741723682839	0.21
18	21751470	G	A	18	24171506	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.48601978432307E-4	0.044
18	21751470	G	C	18	24171506	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00559620626637793	0.128
18	21751470	G	T	18	24171506	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00559620626637793	0.134
18	21751471	A	C	18	24171507	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.86973648294768E-4	0.048
18	21751471	A	G	18	24171507	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.49950397672973E-5	0.01
18	21751471	A	T	18	24171507	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.67564446917391E-4	0.06
18	21751472	A	C	18	24171508	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00330224262369067	0.134
18	21751472	A	G	18	24171508	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00225805382008581	0.05
18	21751472	A	T	18	24171508	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00586403110993732	0.152
18	21751473	A	C	18	24171509	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.72828604304717E-4	0.102
18	21751473	A	G	18	24171509	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.93633842280044E-4	0.008
18	21751473	A	T	18	24171509	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00177450390779371	0.236
18	21751474	A	C	18	24171510	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.997946568132002	0.91
18	21751474	A	G	18	24171510	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.52795327897728E-4	0.004
18	21751474	A	T	18	24171510	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00152368124523399	0.178
18	21752332	T	A	18	24172368	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.28209394548904E-6	0.0
18	21752332	T	C	18	24172368	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.27037610457443E-5	0.0
18	21752332	T	G	18	24172368	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.28209394548904E-6	0.0
18	21752333	G	A	18	24172369	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.19121077944198E-5	0.002
18	21752333	G	C	18	24172369	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.46997970322754E-5	0.008
18	21752333	G	T	18	24172369	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.59094357654955E-5	0.002
18	21752334	C	A	18	24172370	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.96100763638894E-5	0.006
18	21752334	C	G	18	24172370	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.89184576581388E-5	0.002
18	21752334	C	T	18	24172370	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.70582608182765E-5	0.002
18	21752335	C	A	18	24172371	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99997737202707	0.938
18	21752335	C	G	18	24172371	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999662191342103	0.918
18	21752335	C	T	18	24172371	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999938444601455	0.91
18	21752336	T	A	18	24172372	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.92114909801041	0.73
18	21752336	T	C	18	24172372	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.978346828137873	0.814
18	21752336	T	G	18	24172372	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.115955378652883	0.454
18	21752337	T	A	18	24172373	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.988155447574372	0.812
18	21752337	T	C	18	24172373	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00339715918007913	0.134
18	21752337	T	G	18	24172373	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.986428256748738	0.78
18	21752338	A	C	18	24172374	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.1055+2T>G;NM_080597:exon23:c.2201+2T>G;NM_018030:exon9:c.662+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2201+2T>G;ENST00000399443:exon9:c.662+2T>G;ENST00000357041:exon11:c.1055+2T>G;ENST00000578013:exon3:c.206+2T>G;ENST00000578055:exon6:c.246+2T>G)	.	.	0.999988247793601	0.928
18	21752338	A	G	18	24172374	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.1055+2T>C;NM_080597:exon23:c.2201+2T>C;NM_018030:exon9:c.662+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2201+2T>C;ENST00000399443:exon9:c.662+2T>C;ENST00000357041:exon11:c.1055+2T>C;ENST00000578013:exon3:c.206+2T>C;ENST00000578055:exon6:c.246+2T>C)	.	.	0.995944345829671	0.696
18	21752338	A	T	18	24172374	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.1055+2T>A;NM_080597:exon23:c.2201+2T>A;NM_018030:exon9:c.662+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2201+2T>A;ENST00000399443:exon9:c.662+2T>A;ENST00000357041:exon11:c.1055+2T>A;ENST00000578013:exon3:c.206+2T>A;ENST00000578055:exon6:c.246+2T>A)	.	.	0.999988247793601	0.922
18	21752339	C	A	18	24172375	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.1055+1G>T;NM_080597:exon23:c.2201+1G>T;NM_018030:exon9:c.662+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2201+1G>T;ENST00000399443:exon9:c.662+1G>T;ENST00000357041:exon11:c.1055+1G>T;ENST00000578013:exon3:c.206+1G>T;ENST00000578055:exon6:c.246+1G>T)	.	.	0.999989263107695	0.936
18	21752339	C	G	18	24172375	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.1055+1G>C;NM_080597:exon23:c.2201+1G>C;NM_018030:exon9:c.662+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2201+1G>C;ENST00000399443:exon9:c.662+1G>C;ENST00000357041:exon11:c.1055+1G>C;ENST00000578013:exon3:c.206+1G>C;ENST00000578055:exon6:c.246+1G>C)	.	.	0.999987816357178	0.932
18	21752339	C	T	18	24172375	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.1055+1G>A;NM_080597:exon23:c.2201+1G>A;NM_018030:exon9:c.662+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2201+1G>A;ENST00000399443:exon9:c.662+1G>A;ENST00000357041:exon11:c.1055+1G>A;ENST00000578013:exon3:c.206+1G>A;ENST00000578055:exon6:c.246+1G>A)	.	.	0.999989263107695	0.936
18	21752340	T	A	18	24172376	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.A2201T:p.K734M;OSBPL1A:NM_001242508:exon10:c.A1055T:p.K352M;OSBPL1A:NM_018030:exon8:c.A662T:p.K221M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.A662T:p.K221M;ENSG00000141447:ENST00000578013:exon2:c.A206T:p.K69M;ENSG00000141447:ENST00000319481:exon22:c.A2201T:p.K734M;ENSG00000141447:ENST00000357041:exon10:c.A1055T:p.K352M;	0.012185995290159	0.22
18	21752340	T	C	18	24172376	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.A2201G:p.K734R;OSBPL1A:NM_001242508:exon10:c.A1055G:p.K352R;OSBPL1A:NM_018030:exon8:c.A662G:p.K221R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.A662G:p.K221R;ENSG00000141447:ENST00000578013:exon2:c.A206G:p.K69R;ENSG00000141447:ENST00000319481:exon22:c.A2201G:p.K734R;ENSG00000141447:ENST00000357041:exon10:c.A1055G:p.K352R;	3.05333514057806E-4	0.06
18	21752340	T	G	18	24172376	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.A2201C:p.K734T;OSBPL1A:NM_001242508:exon10:c.A1055C:p.K352T;OSBPL1A:NM_018030:exon8:c.A662C:p.K221T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.A662C:p.K221T;ENSG00000141447:ENST00000578013:exon2:c.A206C:p.K69T;ENSG00000141447:ENST00000319481:exon22:c.A2201C:p.K734T;ENSG00000141447:ENST00000357041:exon10:c.A1055C:p.K352T;	0.0156848192123638	0.11
18	21752341	T	A	18	24172377	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon22:c.A2200T:p.K734X;OSBPL1A:NM_001242508:exon10:c.A1054T:p.K352X;OSBPL1A:NM_018030:exon8:c.A661T:p.K221X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon8:c.A661T:p.K221X;ENSG00000141447:ENST00000578013:exon2:c.A205T:p.K69X;ENSG00000141447:ENST00000319481:exon22:c.A2200T:p.K734X;ENSG00000141447:ENST00000357041:exon10:c.A1054T:p.K352X;	0.999921280754181	0.996
18	21752341	T	C	18	24172377	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.A2200G:p.K734E;OSBPL1A:NM_001242508:exon10:c.A1054G:p.K352E;OSBPL1A:NM_018030:exon8:c.A661G:p.K221E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.A661G:p.K221E;ENSG00000141447:ENST00000578013:exon2:c.A205G:p.K69E;ENSG00000141447:ENST00000319481:exon22:c.A2200G:p.K734E;ENSG00000141447:ENST00000357041:exon10:c.A1054G:p.K352E;	0.997948595135113	0.932
18	21752341	T	G	18	24172377	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.A2200C:p.K734Q;OSBPL1A:NM_001242508:exon10:c.A1054C:p.K352Q;OSBPL1A:NM_018030:exon8:c.A661C:p.K221Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.A661C:p.K221Q;ENSG00000141447:ENST00000578013:exon2:c.A205C:p.K69Q;ENSG00000141447:ENST00000319481:exon22:c.A2200C:p.K734Q;ENSG00000141447:ENST00000357041:exon10:c.A1054C:p.K352Q;	0.988570387469812	0.892
18	21752342	G	A	18	24172378	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon22:c.C2199T:p.H733H;OSBPL1A:NM_001242508:exon10:c.C1053T:p.H351H;OSBPL1A:NM_018030:exon8:c.C660T:p.H220H;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.C660T:p.H220H;ENSG00000141447:ENST00000578013:exon2:c.C204T:p.H68H;ENSG00000141447:ENST00000319481:exon22:c.C2199T:p.H733H;ENSG00000141447:ENST00000357041:exon10:c.C1053T:p.H351H;	0.938438748270626	0.726
18	21752342	G	C	18	24172378	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.C2199G:p.H733Q;OSBPL1A:NM_001242508:exon10:c.C1053G:p.H351Q;OSBPL1A:NM_018030:exon8:c.C660G:p.H220Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.C660G:p.H220Q;ENSG00000141447:ENST00000578013:exon2:c.C204G:p.H68Q;ENSG00000141447:ENST00000319481:exon22:c.C2199G:p.H733Q;ENSG00000141447:ENST00000357041:exon10:c.C1053G:p.H351Q;	0.0545855360768917	0.312
18	21752342	G	T	18	24172378	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.C2199A:p.H733Q;OSBPL1A:NM_001242508:exon10:c.C1053A:p.H351Q;OSBPL1A:NM_018030:exon8:c.C660A:p.H220Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.C660A:p.H220Q;ENSG00000141447:ENST00000578013:exon2:c.C204A:p.H68Q;ENSG00000141447:ENST00000319481:exon22:c.C2199A:p.H733Q;ENSG00000141447:ENST00000357041:exon10:c.C1053A:p.H351Q;	0.0187925461179859	0.232
18	21752446	G	A	18	24172482	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.C2095T:p.H699Y;OSBPL1A:NM_001242508:exon10:c.C949T:p.H317Y;OSBPL1A:NM_018030:exon8:c.C556T:p.H186Y;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.C556T:p.H186Y;ENSG00000141447:ENST00000578013:exon2:c.C100T:p.H34Y;ENSG00000141447:ENST00000319481:exon22:c.C2095T:p.H699Y;ENSG00000141447:ENST00000578055:exon5:c.C140T:p.T47I;ENSG00000141447:ENST00000357041:exon10:c.C949T:p.H317Y;	0.0238775962566578	0.234
18	21752446	G	C	18	24172482	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.C2095G:p.H699D;OSBPL1A:NM_001242508:exon10:c.C949G:p.H317D;OSBPL1A:NM_018030:exon8:c.C556G:p.H186D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.C556G:p.H186D;ENSG00000141447:ENST00000578013:exon2:c.C100G:p.H34D;ENSG00000141447:ENST00000319481:exon22:c.C2095G:p.H699D;ENSG00000141447:ENST00000578055:exon5:c.C140G:p.T47R;ENSG00000141447:ENST00000357041:exon10:c.C949G:p.H317D;	0.0315693721522547	0.15
18	21752446	G	T	18	24172482	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.C2095A:p.H699N;OSBPL1A:NM_001242508:exon10:c.C949A:p.H317N;OSBPL1A:NM_018030:exon8:c.C556A:p.H186N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.C556A:p.H186N;ENSG00000141447:ENST00000578013:exon2:c.C100A:p.H34N;ENSG00000141447:ENST00000319481:exon22:c.C2095A:p.H699N;ENSG00000141447:ENST00000578055:exon5:c.C140A:p.T47K;ENSG00000141447:ENST00000357041:exon10:c.C949A:p.H317N;	0.150262288747333	0.252
18	21752447	T	A	18	24172483	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.A2094T:p.E698D;OSBPL1A:NM_001242508:exon10:c.A948T:p.E316D;OSBPL1A:NM_018030:exon8:c.A555T:p.E185D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.A555T:p.E185D;ENSG00000141447:ENST00000319481:exon22:c.A2094T:p.E698D;ENSG00000141447:ENST00000578055:exon5:c.A139T:p.T47S;ENSG00000141447:ENST00000357041:exon10:c.A948T:p.E316D;	8.28230884109642E-4	0.086
18	21752447	T	C	18	24172483	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon22:c.A2094G:p.E698E;OSBPL1A:NM_001242508:exon10:c.A948G:p.E316E;OSBPL1A:NM_018030:exon8:c.A555G:p.E185E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578055:exon5:c.A139G:p.T47A;	8.09892774967841E-5	0.0
18	21752447	T	G	18	24172483	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon22:c.A2094C:p.E698D;OSBPL1A:NM_001242508:exon10:c.A948C:p.E316D;OSBPL1A:NM_018030:exon8:c.A555C:p.E185D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon8:c.A555C:p.E185D;ENSG00000141447:ENST00000319481:exon22:c.A2094C:p.E698D;ENSG00000141447:ENST00000578055:exon5:c.A139C:p.T47P;ENSG00000141447:ENST00000357041:exon10:c.A948C:p.E316D;	5.3968179997089E-4	0.036
18	21752448	C	A	18	24172484	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.948-1G>T;NM_080597:exon23:c.2094-1G>T;NM_018030:exon9:c.555-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2094-1G>T;ENST00000399443:exon9:c.555-1G>T;ENST00000357041:exon11:c.948-1G>T;ENST00000578013:exon3:c.99-1G>T;ENST00000578055:exon6:c.139-1G>T)	.	.	0.999976206550861	0.922
18	21752448	C	G	18	24172484	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.948-1G>C;NM_080597:exon23:c.2094-1G>C;NM_018030:exon9:c.555-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2094-1G>C;ENST00000399443:exon9:c.555-1G>C;ENST00000357041:exon11:c.948-1G>C;ENST00000578013:exon3:c.99-1G>C;ENST00000578055:exon6:c.139-1G>C)	.	.	0.999976206550861	0.922
18	21752448	C	T	18	24172484	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.948-1G>A;NM_080597:exon23:c.2094-1G>A;NM_018030:exon9:c.555-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2094-1G>A;ENST00000399443:exon9:c.555-1G>A;ENST00000357041:exon11:c.948-1G>A;ENST00000578013:exon3:c.99-1G>A;ENST00000578055:exon6:c.139-1G>A)	.	.	0.999976206550861	0.92
18	21752449	T	A	18	24172485	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.948-2A>T;NM_080597:exon23:c.2094-2A>T;NM_018030:exon9:c.555-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2094-2A>T;ENST00000399443:exon9:c.555-2A>T;ENST00000357041:exon11:c.948-2A>T;ENST00000578013:exon3:c.99-2A>T;ENST00000578055:exon6:c.139-2A>T)	.	.	0.999986607513753	0.918
18	21752449	T	C	18	24172485	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.948-2A>G;NM_080597:exon23:c.2094-2A>G;NM_018030:exon9:c.555-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2094-2A>G;ENST00000399443:exon9:c.555-2A>G;ENST00000357041:exon11:c.948-2A>G;ENST00000578013:exon3:c.99-2A>G;ENST00000578055:exon6:c.139-2A>G)	.	.	0.999986607513753	0.918
18	21752449	T	G	18	24172485	y	y	splicing	OSBPL1A(NM_001242508:exon11:c.948-2A>C;NM_080597:exon23:c.2094-2A>C;NM_018030:exon9:c.555-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon23:c.2094-2A>C;ENST00000399443:exon9:c.555-2A>C;ENST00000357041:exon11:c.948-2A>C;ENST00000578013:exon3:c.99-2A>C;ENST00000578055:exon6:c.139-2A>C)	.	.	0.999986607513753	0.918
18	21752450	A	C	18	24172486	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.993106990518359	0.662
18	21752450	A	G	18	24172486	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.83482479374918E-5	0.012
18	21752450	A	T	18	24172486	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0129266068149446	0.31
18	21752451	A	C	18	24172487	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.45643973421854E-4	0.02
18	21752451	A	G	18	24172487	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.55730989554951E-4	0.004
18	21752451	A	T	18	24172487	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.72207190758689E-4	0.02
18	21752452	A	C	18	24172488	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.538997813495088	0.454
18	21752452	A	G	18	24172488	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.43103282358121E-4	0.04
18	21752452	A	T	18	24172488	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.369129223148256	0.46
18	21752453	A	C	18	24172489	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.821349971977834	0.662
18	21752453	A	G	18	24172489	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.66544404804213E-4	0.06
18	21752453	A	T	18	24172489	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.838707047125013	0.632
18	21752454	A	C	18	24172490	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.15087065337791E-4	0.072
18	21752454	A	G	18	24172490	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.58229653410608E-5	0.0
18	21752454	A	T	18	24172490	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.76873398561595E-4	0.03
18	21752455	A	C	18	24172491	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00119815378022043	0.078
18	21752455	A	G	18	24172491	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.56679116393486E-6	0.004
18	21752455	A	T	18	24172491	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00832261928627797	0.054
18	21752456	C	A	18	24172492	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.08766011480635E-5	0.0
18	21752456	C	G	18	24172492	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.8116263075874E-5	0.0
18	21752456	C	T	18	24172492	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.40685047484216E-5	0.014
18	21752457	A	C	18	24172493	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.189041816032151	0.48
18	21752457	A	G	18	24172493	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.78246520400745E-4	0.008
18	21752457	A	T	18	24172493	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999591275482289	0.948
18	21752458	A	C	18	24172494	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00503410344118097	0.21
18	21752458	A	G	18	24172494	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.43700212831986E-4	0.11
18	21752458	A	T	18	24172494	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0465940216202803	0.354
18	21752459	A	C	18	24172495	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.008411635724122	0.246
18	21752459	A	G	18	24172495	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.47247295791187E-4	0.034
18	21752459	A	T	18	24172495	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0218199714465424	0.286
18	21757969	G	A	18	24178005	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.3133303587181E-4	0.01
18	21757969	G	C	18	24178005	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.12671294580353E-4	0.072
18	21757969	G	T	18	24178005	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.50803424616832E-4	0.052
18	21757970	A	C	18	24178006	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.85325435212751E-4	0.004
18	21757970	A	G	18	24178006	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.85325435212751E-4	0.032
18	21757970	A	T	18	24178006	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.87328627327583E-4	0.012
18	21757971	A	C	18	24178007	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999135443039807	0.944
18	21757971	A	G	18	24178007	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999657225093597	0.99
18	21757971	A	T	18	24178007	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999680497493008	0.864
18	21757972	C	A	18	24178008	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999932373498605	0.942
18	21757972	C	G	18	24178008	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999951483627764	0.978
18	21757972	C	T	18	24178008	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999928434708671	0.972
18	21757973	T	A	18	24178009	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999911936320192	0.932
18	21757973	T	C	18	24178009	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999869733513507	0.96
18	21757973	T	G	18	24178009	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999935184568932	0.94
18	21757974	C	A	18	24178010	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.936438065041361	0.532
18	21757974	C	G	18	24178010	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.942115437441642	0.612
18	21757974	C	T	18	24178010	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.19595336870947E-4	0.014
18	21757975	A	C	18	24178011	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.947+2T>G;NM_080597:exon22:c.2093+2T>G;NM_018030:exon8:c.554+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.2093+2T>G;ENST00000399443:exon8:c.554+2T>G;ENST00000357041:exon10:c.947+2T>G)	.	.	0.999990764389106	0.942
18	21757975	A	G	18	24178011	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.947+2T>C;NM_080597:exon22:c.2093+2T>C;NM_018030:exon8:c.554+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.2093+2T>C;ENST00000399443:exon8:c.554+2T>C;ENST00000357041:exon10:c.947+2T>C)	.	.	0.999987057265159	0.954
18	21757975	A	T	18	24178011	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.947+2T>A;NM_080597:exon22:c.2093+2T>A;NM_018030:exon8:c.554+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.2093+2T>A;ENST00000399443:exon8:c.554+2T>A;ENST00000357041:exon10:c.947+2T>A)	.	.	0.999990764389106	0.942
18	21757976	C	A	18	24178012	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.947+1G>T;NM_080597:exon22:c.2093+1G>T;NM_018030:exon8:c.554+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.2093+1G>T;ENST00000399443:exon8:c.554+1G>T;ENST00000357041:exon10:c.947+1G>T)	.	.	0.999992425382947	0.94
18	21757976	C	G	18	24178012	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.947+1G>C;NM_080597:exon22:c.2093+1G>C;NM_018030:exon8:c.554+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.2093+1G>C;ENST00000399443:exon8:c.554+1G>C;ENST00000357041:exon10:c.947+1G>C)	.	.	0.999992425382947	0.94
18	21757976	C	T	18	24178012	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.947+1G>A;NM_080597:exon22:c.2093+1G>A;NM_018030:exon8:c.554+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.2093+1G>A;ENST00000399443:exon8:c.554+1G>A;ENST00000357041:exon10:c.947+1G>A)	.	.	0.999992425382947	0.94
18	21757977	T	A	18	24178013	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon21:c.A2093T:p.E698V;OSBPL1A:NM_001242508:exon9:c.A947T:p.E316V;OSBPL1A:NM_018030:exon7:c.A554T:p.E185V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.A554T:p.E185V;ENSG00000141447:ENST00000319481:exon21:c.A2093T:p.E698V;ENSG00000141447:ENST00000357041:exon9:c.A947T:p.E316V;	0.821061247703486	0.476
18	21757977	T	C	18	24178013	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon21:c.A2093G:p.E698G;OSBPL1A:NM_001242508:exon9:c.A947G:p.E316G;OSBPL1A:NM_018030:exon7:c.A554G:p.E185G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.A554G:p.E185G;ENSG00000141447:ENST00000319481:exon21:c.A2093G:p.E698G;ENSG00000141447:ENST00000357041:exon9:c.A947G:p.E316G;	0.0408902056280738	0.136
18	21757977	T	G	18	24178013	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon21:c.A2093C:p.E698A;OSBPL1A:NM_001242508:exon9:c.A947C:p.E316A;OSBPL1A:NM_018030:exon7:c.A554C:p.E185A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.A554C:p.E185A;ENSG00000141447:ENST00000319481:exon21:c.A2093C:p.E698A;ENSG00000141447:ENST00000357041:exon9:c.A947C:p.E316A;	0.0110776179059882	0.222
18	21757978	C	A	18	24178014	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon21:c.G2092T:p.E698X;OSBPL1A:NM_001242508:exon9:c.G946T:p.E316X;OSBPL1A:NM_018030:exon7:c.G553T:p.E185X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon7:c.G553T:p.E185X;ENSG00000141447:ENST00000319481:exon21:c.G2092T:p.E698X;ENSG00000141447:ENST00000357041:exon9:c.G946T:p.E316X;	0.994767556254469	0.922
18	21757978	C	G	18	24178014	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon21:c.G2092C:p.E698Q;OSBPL1A:NM_001242508:exon9:c.G946C:p.E316Q;OSBPL1A:NM_018030:exon7:c.G553C:p.E185Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.G553C:p.E185Q;ENSG00000141447:ENST00000319481:exon21:c.G2092C:p.E698Q;ENSG00000141447:ENST00000357041:exon9:c.G946C:p.E316Q;	0.986755396585092	0.728
18	21757978	C	T	18	24178014	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon21:c.G2092A:p.E698K;OSBPL1A:NM_001242508:exon9:c.G946A:p.E316K;OSBPL1A:NM_018030:exon7:c.G553A:p.E185K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.G553A:p.E185K;ENSG00000141447:ENST00000319481:exon21:c.G2092A:p.E698K;ENSG00000141447:ENST00000357041:exon9:c.G946A:p.E316K;	0.00152731929559413	0.11
18	21757979	A	C	18	24178015	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon21:c.T2091G:p.L697L;OSBPL1A:NM_001242508:exon9:c.T945G:p.L315L;OSBPL1A:NM_018030:exon7:c.T552G:p.L184L;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.T552G:p.L184L;ENSG00000141447:ENST00000319481:exon21:c.T2091G:p.L697L;ENSG00000141447:ENST00000357041:exon9:c.T945G:p.L315L;	2.46851830812233E-5	0.026
18	21757979	A	G	18	24178015	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon21:c.T2091C:p.L697L;OSBPL1A:NM_001242508:exon9:c.T945C:p.L315L;OSBPL1A:NM_018030:exon7:c.T552C:p.L184L;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.T552C:p.L184L;ENSG00000141447:ENST00000319481:exon21:c.T2091C:p.L697L;ENSG00000141447:ENST00000357041:exon9:c.T945C:p.L315L;	5.27584393445524E-5	0.006
18	21757979	A	T	18	24178015	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon21:c.T2091A:p.L697L;OSBPL1A:NM_001242508:exon9:c.T945A:p.L315L;OSBPL1A:NM_018030:exon7:c.T552A:p.L184L;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.T552A:p.L184L;ENSG00000141447:ENST00000319481:exon21:c.T2091A:p.L697L;ENSG00000141447:ENST00000357041:exon9:c.T945A:p.L315L;	2.1173471145668E-5	0.004
18	21758158	C	A	18	24178194	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon21:c.G1912T:p.D638Y;OSBPL1A:NM_001242508:exon9:c.G766T:p.D256Y;OSBPL1A:NM_018030:exon7:c.G373T:p.D125Y;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.G373T:p.D125Y;ENSG00000141447:ENST00000319481:exon21:c.G1912T:p.D638Y;ENSG00000141447:ENST00000357041:exon9:c.G766T:p.D256Y;	0.97938168740051	0.852
18	21758158	C	G	18	24178194	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon21:c.G1912C:p.D638H;OSBPL1A:NM_001242508:exon9:c.G766C:p.D256H;OSBPL1A:NM_018030:exon7:c.G373C:p.D125H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.G373C:p.D125H;ENSG00000141447:ENST00000319481:exon21:c.G1912C:p.D638H;ENSG00000141447:ENST00000357041:exon9:c.G766C:p.D256H;	0.977715062281	0.822
18	21758158	C	T	18	24178194	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon21:c.G1912A:p.D638N;OSBPL1A:NM_001242508:exon9:c.G766A:p.D256N;OSBPL1A:NM_018030:exon7:c.G373A:p.D125N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.G373A:p.D125N;ENSG00000141447:ENST00000319481:exon21:c.G1912A:p.D638N;ENSG00000141447:ENST00000357041:exon9:c.G766A:p.D256N;	0.98313371239463	0.862
18	21758159	T	A	18	24178195	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon21:c.A1911T:p.R637R;OSBPL1A:NM_001242508:exon9:c.A765T:p.R255R;OSBPL1A:NM_018030:exon7:c.A372T:p.R124R;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.A372T:p.R124R;ENSG00000141447:ENST00000319481:exon21:c.A1911T:p.R637R;ENSG00000141447:ENST00000357041:exon9:c.A765T:p.R255R;	0.00243378122068105	0.088
18	21758159	T	C	18	24178195	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon21:c.A1911G:p.R637R;OSBPL1A:NM_001242508:exon9:c.A765G:p.R255R;OSBPL1A:NM_018030:exon7:c.A372G:p.R124R;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.A372G:p.R124R;ENSG00000141447:ENST00000319481:exon21:c.A1911G:p.R637R;ENSG00000141447:ENST00000357041:exon9:c.A765G:p.R255R;	5.80385934515683E-5	0.0
18	21758159	T	G	18	24178195	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon21:c.A1911C:p.R637R;OSBPL1A:NM_001242508:exon9:c.A765C:p.R255R;OSBPL1A:NM_018030:exon7:c.A372C:p.R124R;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon7:c.A372C:p.R124R;ENSG00000141447:ENST00000319481:exon21:c.A1911C:p.R637R;ENSG00000141447:ENST00000357041:exon9:c.A765C:p.R255R;	0.00154396550454186	0.13
18	21758160	C	A	18	24178196	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.765-1G>T;NM_080597:exon22:c.1911-1G>T;NM_018030:exon8:c.372-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.1911-1G>T;ENST00000399443:exon8:c.372-1G>T;ENST00000357041:exon10:c.765-1G>T)	.	.	0.999987670894945	0.94
18	21758160	C	G	18	24178196	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.765-1G>C;NM_080597:exon22:c.1911-1G>C;NM_018030:exon8:c.372-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.1911-1G>C;ENST00000399443:exon8:c.372-1G>C;ENST00000357041:exon10:c.765-1G>C)	.	.	0.999987670894945	0.94
18	21758160	C	T	18	24178196	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.765-1G>A;NM_080597:exon22:c.1911-1G>A;NM_018030:exon8:c.372-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.1911-1G>A;ENST00000399443:exon8:c.372-1G>A;ENST00000357041:exon10:c.765-1G>A)	.	.	0.999987670894945	0.94
18	21758161	T	A	18	24178197	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.765-2A>T;NM_080597:exon22:c.1911-2A>T;NM_018030:exon8:c.372-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.1911-2A>T;ENST00000399443:exon8:c.372-2A>T;ENST00000357041:exon10:c.765-2A>T)	.	.	0.999986741007567	0.938
18	21758161	T	C	18	24178197	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.765-2A>G;NM_080597:exon22:c.1911-2A>G;NM_018030:exon8:c.372-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.1911-2A>G;ENST00000399443:exon8:c.372-2A>G;ENST00000357041:exon10:c.765-2A>G)	.	.	0.999986741007567	0.938
18	21758161	T	G	18	24178197	y	y	splicing	OSBPL1A(NM_001242508:exon10:c.765-2A>C;NM_080597:exon22:c.1911-2A>C;NM_018030:exon8:c.372-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon22:c.1911-2A>C;ENST00000399443:exon8:c.372-2A>C;ENST00000357041:exon10:c.765-2A>C)	.	.	0.999986741007567	0.938
18	21758162	T	A	18	24178198	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.75918885470314E-4	0.032
18	21758162	T	C	18	24178198	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.697807979422178	0.428
18	21758162	T	G	18	24178198	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00102389763004241	0.058
18	21758163	A	C	18	24178199	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.23811284518517E-4	0.128
18	21758163	A	G	18	24178199	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.79692247253779E-4	0.062
18	21758163	A	T	18	24178199	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.32882387805415E-4	0.018
18	21758164	A	C	18	24178200	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999794320960659	0.898
18	21758164	A	G	18	24178200	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.46347697300003E-4	0.14
18	21758164	A	T	18	24178200	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.994752857358587	0.896
18	21758165	G	A	18	24178201	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.24559505915997E-4	0.158
18	21758165	G	C	18	24178201	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00591811125214614	0.348
18	21758165	G	T	18	24178201	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00211813050389662	0.314
18	21758166	A	C	18	24178202	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999670857376506	0.958
18	21758166	A	G	18	24178202	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00169532989870495	0.136
18	21758166	A	T	18	24178202	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.3335185023917	0.542
18	21758167	T	A	18	24178203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.24916026655194E-5	0.042
18	21758167	T	C	18	24178203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.982126897335324	0.892
18	21758167	T	G	18	24178203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.06925766437316E-5	0.042
18	21758168	T	A	18	24178204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.24329851971747E-4	0.366
18	21758168	T	C	18	24178204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999878870309082	0.942
18	21758168	T	G	18	24178204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.02905173926574E-4	0.216
18	21758169	T	A	18	24178205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0016308184690605	0.052
18	21758169	T	C	18	24178205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00191978883980628	0.014
18	21758169	T	G	18	24178205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.91738812724654E-4	0.034
18	21758170	A	C	18	24178206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.995802929713952	0.884
18	21758170	A	G	18	24178206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.103127066846741	0.244
18	21758170	A	T	18	24178206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.996285885973417	0.89
18	21758171	A	C	18	24178207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.876948476692939	0.658
18	21758171	A	G	18	24178207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00308748443165249	0.182
18	21758171	A	T	18	24178207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.81332480083028	0.652
18	21759694	G	A	18	24179730	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.27673964080821E-4	0.008
18	21759694	G	C	18	24179730	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.39321167456118E-5	0.0
18	21759694	G	T	18	24179730	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.26516636225452E-4	0.002
18	21759695	G	A	18	24179731	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.01584367750221E-4	0.012
18	21759695	G	C	18	24179731	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.78389654127837E-5	0.004
18	21759695	G	T	18	24179731	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.78389654127837E-5	0.004
18	21759696	C	A	18	24179732	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.24276335397826E-5	0.002
18	21759696	C	G	18	24179732	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.5693407498698E-5	0.002
18	21759696	C	T	18	24179732	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.43877229498206E-5	0.0
18	21759697	C	A	18	24179733	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99992122281363	0.89
18	21759697	C	G	18	24179733	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999953907766867	0.83
18	21759697	C	T	18	24179733	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999976259271404	0.864
18	21759698	T	A	18	24179734	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.939970795956252	0.858
18	21759698	T	C	18	24179734	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.962249672937945	0.832
18	21759698	T	G	18	24179734	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.38818326242007	0.57
18	21759699	C	A	18	24179735	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.994295100833427	0.548
18	21759699	C	G	18	24179735	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.975440077785529	0.618
18	21759699	C	T	18	24179735	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.27011812645152E-4	0.01
18	21759700	A	C	18	24179736	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.764+2T>G;NM_080597:exon21:c.1910+2T>G;NM_018030:exon7:c.371+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1910+2T>G;ENST00000399443:exon7:c.371+2T>G;ENST00000357041:exon9:c.764+2T>G;ENST00000578013:exon2:c.98+2T>G)	.	.	0.999971317418422	0.894
18	21759700	A	G	18	24179736	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.764+2T>C;NM_080597:exon21:c.1910+2T>C;NM_018030:exon7:c.371+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1910+2T>C;ENST00000399443:exon7:c.371+2T>C;ENST00000357041:exon9:c.764+2T>C;ENST00000578013:exon2:c.98+2T>C)	.	.	0.999959804700048	0.92
18	21759700	A	T	18	24179736	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.764+2T>A;NM_080597:exon21:c.1910+2T>A;NM_018030:exon7:c.371+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1910+2T>A;ENST00000399443:exon7:c.371+2T>A;ENST00000357041:exon9:c.764+2T>A;ENST00000578013:exon2:c.98+2T>A)	.	.	0.999963671976247	0.916
18	21759701	C	A	18	24179737	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.764+1G>T;NM_080597:exon21:c.1910+1G>T;NM_018030:exon7:c.371+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1910+1G>T;ENST00000399443:exon7:c.371+1G>T;ENST00000357041:exon9:c.764+1G>T;ENST00000578013:exon2:c.98+1G>T)	.	.	0.999971209564868	0.938
18	21759701	C	G	18	24179737	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.764+1G>C;NM_080597:exon21:c.1910+1G>C;NM_018030:exon7:c.371+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1910+1G>C;ENST00000399443:exon7:c.371+1G>C;ENST00000357041:exon9:c.764+1G>C;ENST00000578013:exon2:c.98+1G>C)	.	.	0.999970205305079	0.936
18	21759701	C	T	18	24179737	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.764+1G>A;NM_080597:exon21:c.1910+1G>A;NM_018030:exon7:c.371+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1910+1G>A;ENST00000399443:exon7:c.371+1G>A;ENST00000357041:exon9:c.764+1G>A;ENST00000578013:exon2:c.98+1G>A)	.	.	0.999971209564868	0.938
18	21759702	C	A	18	24179738	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.G1910T:p.R637L;OSBPL1A:NM_001242508:exon8:c.G764T:p.R255L;OSBPL1A:NM_018030:exon6:c.G371T:p.R124L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G371T:p.R124L;ENSG00000141447:ENST00000578013:exon1:c.G98T:p.R33L;ENSG00000141447:ENST00000319481:exon20:c.G1910T:p.R637L;ENSG00000141447:ENST00000357041:exon8:c.G764T:p.R255L;	0.999973788205042	0.938
18	21759702	C	G	18	24179738	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.G1910C:p.R637P;OSBPL1A:NM_001242508:exon8:c.G764C:p.R255P;OSBPL1A:NM_018030:exon6:c.G371C:p.R124P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G371C:p.R124P;ENSG00000141447:ENST00000578013:exon1:c.G98C:p.R33P;ENSG00000141447:ENST00000319481:exon20:c.G1910C:p.R637P;ENSG00000141447:ENST00000357041:exon8:c.G764C:p.R255P;	0.99999336184632	0.95
18	21759702	C	T	18	24179738	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.G1910A:p.R637Q;OSBPL1A:NM_001242508:exon8:c.G764A:p.R255Q;OSBPL1A:NM_018030:exon6:c.G371A:p.R124Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G371A:p.R124Q;ENSG00000141447:ENST00000578013:exon1:c.G98A:p.R33Q;ENSG00000141447:ENST00000319481:exon20:c.G1910A:p.R637Q;ENSG00000141447:ENST00000357041:exon8:c.G764A:p.R255Q;	0.999975278514477	0.998
18	21759703	G	A	18	24179739	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon20:c.C1909T:p.R637X;OSBPL1A:NM_001242508:exon8:c.C763T:p.R255X;OSBPL1A:NM_018030:exon6:c.C370T:p.R124X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon6:c.C370T:p.R124X;ENSG00000141447:ENST00000578013:exon1:c.C97T:p.R33X;ENSG00000141447:ENST00000319481:exon20:c.C1909T:p.R637X;ENSG00000141447:ENST00000357041:exon8:c.C763T:p.R255X;	0.245817001257595	0.326
18	21759703	G	C	18	24179739	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.C1909G:p.R637G;OSBPL1A:NM_001242508:exon8:c.C763G:p.R255G;OSBPL1A:NM_018030:exon6:c.C370G:p.R124G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.C370G:p.R124G;ENSG00000141447:ENST00000578013:exon1:c.C97G:p.R33G;ENSG00000141447:ENST00000319481:exon20:c.C1909G:p.R637G;ENSG00000141447:ENST00000357041:exon8:c.C763G:p.R255G;	0.00548299387999469	0.082
18	21759703	G	T	18	24179739	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon20:c.C1909A:p.R637R;OSBPL1A:NM_001242508:exon8:c.C763A:p.R255R;OSBPL1A:NM_018030:exon6:c.C370A:p.R124R;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.C370A:p.R124R;ENSG00000141447:ENST00000578013:exon1:c.C97A:p.R33R;ENSG00000141447:ENST00000319481:exon20:c.C1909A:p.R637R;ENSG00000141447:ENST00000357041:exon8:c.C763A:p.R255R;	7.49507485752721E-5	0.06
18	21759704	C	A	18	24179740	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon20:c.G1908T:p.V636V;OSBPL1A:NM_001242508:exon8:c.G762T:p.V254V;OSBPL1A:NM_018030:exon6:c.G369T:p.V123V;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G369T:p.V123V;ENSG00000141447:ENST00000578013:exon1:c.G96T:p.V32V;ENSG00000141447:ENST00000319481:exon20:c.G1908T:p.V636V;ENSG00000141447:ENST00000357041:exon8:c.G762T:p.V254V;	1.44371744255867E-4	0.002
18	21759704	C	G	18	24179740	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon20:c.G1908C:p.V636V;OSBPL1A:NM_001242508:exon8:c.G762C:p.V254V;OSBPL1A:NM_018030:exon6:c.G369C:p.V123V;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G369C:p.V123V;ENSG00000141447:ENST00000578013:exon1:c.G96C:p.V32V;ENSG00000141447:ENST00000319481:exon20:c.G1908C:p.V636V;ENSG00000141447:ENST00000357041:exon8:c.G762C:p.V254V;	1.65047354028333E-5	0.0
18	21759704	C	T	18	24179740	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon20:c.G1908A:p.V636V;OSBPL1A:NM_001242508:exon8:c.G762A:p.V254V;OSBPL1A:NM_018030:exon6:c.G369A:p.V123V;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G369A:p.V123V;ENSG00000141447:ENST00000578013:exon1:c.G96A:p.V32V;ENSG00000141447:ENST00000319481:exon20:c.G1908A:p.V636V;ENSG00000141447:ENST00000357041:exon8:c.G762A:p.V254V;	1.65047354028333E-5	0.0
18	21759798	C	A	18	24179834	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.G1814T:p.C605F;OSBPL1A:NM_001242508:exon8:c.G668T:p.C223F;OSBPL1A:NM_018030:exon6:c.G275T:p.C92F;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G275T:p.C92F;ENSG00000141447:ENST00000578013:exon1:c.G2T:p.C1F;ENSG00000141447:ENST00000319481:exon20:c.G1814T:p.C605F;ENSG00000141447:ENST00000357041:exon8:c.G668T:p.C223F;	4.19004513380129E-5	0.01
18	21759798	C	G	18	24179834	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.G1814C:p.C605S;OSBPL1A:NM_001242508:exon8:c.G668C:p.C223S;OSBPL1A:NM_018030:exon6:c.G275C:p.C92S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G275C:p.C92S;ENSG00000141447:ENST00000578013:exon1:c.G2C:p.C1S;ENSG00000141447:ENST00000319481:exon20:c.G1814C:p.C605S;ENSG00000141447:ENST00000357041:exon8:c.G668C:p.C223S;	6.39183194883297E-5	0.042
18	21759798	C	T	18	24179834	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.G1814A:p.C605Y;OSBPL1A:NM_001242508:exon8:c.G668A:p.C223Y;OSBPL1A:NM_018030:exon6:c.G275A:p.C92Y;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.G275A:p.C92Y;ENSG00000141447:ENST00000578013:exon1:c.G2A:p.C1Y;ENSG00000141447:ENST00000319481:exon20:c.G1814A:p.C605Y;ENSG00000141447:ENST00000357041:exon8:c.G668A:p.C223Y;	8.42863705257917E-5	0.086
18	21759799	A	C	18	24179835	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.T1813G:p.C605G;OSBPL1A:NM_001242508:exon8:c.T667G:p.C223G;OSBPL1A:NM_018030:exon6:c.T274G:p.C92G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.T274G:p.C92G;ENSG00000141447:ENST00000578013:exon1:c.T1G:p.C1G;ENSG00000141447:ENST00000319481:exon20:c.T1813G:p.C605G;ENSG00000141447:ENST00000357041:exon8:c.T667G:p.C223G;	2.8750019293738E-4	0.162
18	21759799	A	G	18	24179835	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.T1813C:p.C605R;OSBPL1A:NM_001242508:exon8:c.T667C:p.C223R;OSBPL1A:NM_018030:exon6:c.T274C:p.C92R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.T274C:p.C92R;ENSG00000141447:ENST00000578013:exon1:c.T1C:p.C1R;ENSG00000141447:ENST00000319481:exon20:c.T1813C:p.C605R;ENSG00000141447:ENST00000357041:exon8:c.T667C:p.C223R;	4.3630141914339E-4	0.02
18	21759799	A	T	18	24179835	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon20:c.T1813A:p.C605S;OSBPL1A:NM_001242508:exon8:c.T667A:p.C223S;OSBPL1A:NM_018030:exon6:c.T274A:p.C92S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon6:c.T274A:p.C92S;ENSG00000141447:ENST00000578013:exon1:c.T1A:p.C1S;ENSG00000141447:ENST00000319481:exon20:c.T1813A:p.C605S;ENSG00000141447:ENST00000357041:exon8:c.T667A:p.C223S;	2.73836997348167E-4	0.012
18	21759800	C	A	18	24179836	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.667-1G>T;NM_080597:exon21:c.1813-1G>T;NM_018030:exon7:c.274-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1813-1G>T;ENST00000399443:exon7:c.274-1G>T;ENST00000357041:exon9:c.667-1G>T)	.	.	0.999976585394876	0.948
18	21759800	C	G	18	24179836	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.667-1G>C;NM_080597:exon21:c.1813-1G>C;NM_018030:exon7:c.274-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1813-1G>C;ENST00000399443:exon7:c.274-1G>C;ENST00000357041:exon9:c.667-1G>C)	.	.	0.999969034591369	0.91
18	21759800	C	T	18	24179836	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.667-1G>A;NM_080597:exon21:c.1813-1G>A;NM_018030:exon7:c.274-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1813-1G>A;ENST00000399443:exon7:c.274-1G>A;ENST00000357041:exon9:c.667-1G>A)	.	.	0.999977374612266	0.948
18	21759801	T	A	18	24179837	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.667-2A>T;NM_080597:exon21:c.1813-2A>T;NM_018030:exon7:c.274-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1813-2A>T;ENST00000399443:exon7:c.274-2A>T;ENST00000357041:exon9:c.667-2A>T)	.	.	0.999977459371092	0.916
18	21759801	T	C	18	24179837	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.667-2A>G;NM_080597:exon21:c.1813-2A>G;NM_018030:exon7:c.274-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1813-2A>G;ENST00000399443:exon7:c.274-2A>G;ENST00000357041:exon9:c.667-2A>G)	.	.	0.999977459371092	0.91
18	21759801	T	G	18	24179837	y	y	splicing	OSBPL1A(NM_001242508:exon9:c.667-2A>C;NM_080597:exon21:c.1813-2A>C;NM_018030:exon7:c.274-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon21:c.1813-2A>C;ENST00000399443:exon7:c.274-2A>C;ENST00000357041:exon9:c.667-2A>C)	.	.	0.999977459371092	0.912
18	21759802	G	A	18	24179838	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0236394809329578	0.358
18	21759802	G	C	18	24179838	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999914839763727	0.898
18	21759802	G	T	18	24179838	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998316946450969	0.88
18	21759803	T	A	18	24179839	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.09439930232407E-5	0.022
18	21759803	T	C	18	24179839	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.38056252131335E-5	0.112
18	21759803	T	G	18	24179839	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.2723789130087E-5	0.086
18	21759804	G	A	18	24179840	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.18205818542766E-5	0.002
18	21759804	G	C	18	24179840	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.81117057020893E-4	0.056
18	21759804	G	T	18	24179840	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.62137335810894E-4	0.028
18	21759805	G	A	18	24179841	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.47024366073708E-5	0.002
18	21759805	G	C	18	24179841	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0169739927943779	0.186
18	21759805	G	T	18	24179841	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0048687135651712	0.144
18	21759806	G	A	18	24179842	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.25094594976526E-5	0.0
18	21759806	G	C	18	24179842	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.04985259168769E-4	0.034
18	21759806	G	T	18	24179842	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00118375770130623	0.042
18	21759807	A	C	18	24179843	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00684837142847876	0.248
18	21759807	A	G	18	24179843	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.30805327195954E-4	0.016
18	21759807	A	T	18	24179843	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0311315600905783	0.26
18	21759808	C	A	18	24179844	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.57224415015791E-5	0.016
18	21759808	C	G	18	24179844	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.02710654681616E-5	0.022
18	21759808	C	T	18	24179844	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.58532730599796E-5	0.028
18	21759809	A	C	18	24179845	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0330474561884659	0.428
18	21759809	A	G	18	24179845	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00185259112203695	0.134
18	21759809	A	T	18	24179845	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999914535469838	0.976
18	21759810	G	A	18	24179846	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.38519934318646E-4	0.002
18	21759810	G	C	18	24179846	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.39658272007261E-4	0.114
18	21759810	G	T	18	24179846	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.51096207849839E-4	0.118
18	21759811	A	C	18	24179847	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.014808178869111	0.286
18	21759811	A	G	18	24179847	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00270962207420508	0.082
18	21759811	A	T	18	24179847	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0186356383474386	0.284
18	21761101	G	A	18	24181137	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.69168927045529E-5	0.0
18	21761101	G	C	18	24181137	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.90949318516983E-5	0.0
18	21761101	G	T	18	24181137	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.59784571365341E-5	0.0
18	21761102	C	A	18	24181138	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.03126863255572E-5	0.002
18	21761102	C	G	18	24181138	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.23389499156414E-4	0.002
18	21761102	C	T	18	24181138	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.45877596969867E-4	0.006
18	21761103	T	A	18	24181139	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.35542892654142E-5	0.0
18	21761103	T	C	18	24181139	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.08202844521154E-5	0.0
18	21761103	T	G	18	24181139	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.38512274537823E-5	0.03
18	21761104	C	A	18	24181140	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.969905692948589	0.628
18	21761104	C	G	18	24181140	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.987618885826139	0.602
18	21761104	C	T	18	24181140	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.918005726747393	0.504
18	21761105	A	C	18	24181141	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.83706884573302E-5	0.004
18	21761105	A	G	18	24181141	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.71240425194641E-5	0.002
18	21761105	A	T	18	24181141	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.42055746013765E-5	0.038
18	21761106	T	A	18	24181142	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.951918840912749	0.512
18	21761106	T	C	18	24181142	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.533480341796759	0.448
18	21761106	T	G	18	24181142	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.939992443333868	0.512
18	21761107	A	C	18	24181143	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.666+2T>G;NM_080597:exon20:c.1812+2T>G;NM_018030:exon6:c.273+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1812+2T>G;ENST00000399443:exon6:c.273+2T>G;ENST00000357041:exon8:c.666+2T>G)	.	.	0.999988247793601	0.93
18	21761107	A	G	18	24181143	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.666+2T>C;NM_080597:exon20:c.1812+2T>C;NM_018030:exon6:c.273+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1812+2T>C;ENST00000399443:exon6:c.273+2T>C;ENST00000357041:exon8:c.666+2T>C)	.	.	0.994669226766359	0.654
18	21761107	A	T	18	24181143	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.666+2T>A;NM_080597:exon20:c.1812+2T>A;NM_018030:exon6:c.273+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1812+2T>A;ENST00000399443:exon6:c.273+2T>A;ENST00000357041:exon8:c.666+2T>A)	.	.	0.999988247793601	0.93
18	21761108	C	A	18	24181144	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.666+1G>T;NM_080597:exon20:c.1812+1G>T;NM_018030:exon6:c.273+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1812+1G>T;ENST00000399443:exon6:c.273+1G>T;ENST00000357041:exon8:c.666+1G>T)	.	.	0.999989072007339	0.934
18	21761108	C	G	18	24181144	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.666+1G>C;NM_080597:exon20:c.1812+1G>C;NM_018030:exon6:c.273+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1812+1G>C;ENST00000399443:exon6:c.273+1G>C;ENST00000357041:exon8:c.666+1G>C)	.	.	0.999989072007339	0.934
18	21761108	C	T	18	24181144	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.666+1G>A;NM_080597:exon20:c.1812+1G>A;NM_018030:exon6:c.273+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1812+1G>A;ENST00000399443:exon6:c.273+1G>A;ENST00000357041:exon8:c.666+1G>A)	.	.	0.999989072007339	0.934
18	21761109	C	A	18	24181145	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.G1812T:p.Q604H;OSBPL1A:NM_001242508:exon7:c.G666T:p.Q222H;OSBPL1A:NM_018030:exon5:c.G273T:p.Q91H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.G273T:p.Q91H;ENSG00000141447:ENST00000319481:exon19:c.G1812T:p.Q604H;ENSG00000141447:ENST00000357041:exon7:c.G666T:p.Q222H;	0.999978069253418	0.988
18	21761109	C	G	18	24181145	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.G1812C:p.Q604H;OSBPL1A:NM_001242508:exon7:c.G666C:p.Q222H;OSBPL1A:NM_018030:exon5:c.G273C:p.Q91H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.G273C:p.Q91H;ENSG00000141447:ENST00000319481:exon19:c.G1812C:p.Q604H;ENSG00000141447:ENST00000357041:exon7:c.G666C:p.Q222H;	0.999993746030495	0.98
18	21761109	C	T	18	24181145	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon19:c.G1812A:p.Q604Q;OSBPL1A:NM_001242508:exon7:c.G666A:p.Q222Q;OSBPL1A:NM_018030:exon5:c.G273A:p.Q91Q;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.G273A:p.Q91Q;ENSG00000141447:ENST00000319481:exon19:c.G1812A:p.Q604Q;ENSG00000141447:ENST00000357041:exon7:c.G666A:p.Q222Q;	0.997437932852352	0.95
18	21761110	T	A	18	24181146	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.A1811T:p.Q604L;OSBPL1A:NM_001242508:exon7:c.A665T:p.Q222L;OSBPL1A:NM_018030:exon5:c.A272T:p.Q91L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.A272T:p.Q91L;ENSG00000141447:ENST00000319481:exon19:c.A1811T:p.Q604L;ENSG00000141447:ENST00000357041:exon7:c.A665T:p.Q222L;	0.999870609833354	0.988
18	21761110	T	C	18	24181146	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.A1811G:p.Q604R;OSBPL1A:NM_001242508:exon7:c.A665G:p.Q222R;OSBPL1A:NM_018030:exon5:c.A272G:p.Q91R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.A272G:p.Q91R;ENSG00000141447:ENST00000319481:exon19:c.A1811G:p.Q604R;ENSG00000141447:ENST00000357041:exon7:c.A665G:p.Q222R;	0.999881460236447	0.972
18	21761110	T	G	18	24181146	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.A1811C:p.Q604P;OSBPL1A:NM_001242508:exon7:c.A665C:p.Q222P;OSBPL1A:NM_018030:exon5:c.A272C:p.Q91P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.A272C:p.Q91P;ENSG00000141447:ENST00000319481:exon19:c.A1811C:p.Q604P;ENSG00000141447:ENST00000357041:exon7:c.A665C:p.Q222P;	0.999452313172023	0.96
18	21761111	G	A	18	24181147	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon19:c.C1810T:p.Q604X;OSBPL1A:NM_001242508:exon7:c.C664T:p.Q222X;OSBPL1A:NM_018030:exon5:c.C271T:p.Q91X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon5:c.C271T:p.Q91X;ENSG00000141447:ENST00000319481:exon19:c.C1810T:p.Q604X;ENSG00000141447:ENST00000357041:exon7:c.C664T:p.Q222X;	0.999193708678558	0.96
18	21761111	G	C	18	24181147	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.C1810G:p.Q604E;OSBPL1A:NM_001242508:exon7:c.C664G:p.Q222E;OSBPL1A:NM_018030:exon5:c.C271G:p.Q91E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.C271G:p.Q91E;ENSG00000141447:ENST00000319481:exon19:c.C1810G:p.Q604E;ENSG00000141447:ENST00000357041:exon7:c.C664G:p.Q222E;	0.942725636612859	0.598
18	21761111	G	T	18	24181147	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.C1810A:p.Q604K;OSBPL1A:NM_001242508:exon7:c.C664A:p.Q222K;OSBPL1A:NM_018030:exon5:c.C271A:p.Q91K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.C271A:p.Q91K;ENSG00000141447:ENST00000319481:exon19:c.C1810A:p.Q604K;ENSG00000141447:ENST00000357041:exon7:c.C664A:p.Q222K;	0.9429701833567	0.764
18	21761242	T	A	18	24181278	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.A1679T:p.E560V;OSBPL1A:NM_001242508:exon7:c.A533T:p.E178V;OSBPL1A:NM_018030:exon5:c.A140T:p.E47V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.A140T:p.E47V;ENSG00000141447:ENST00000319481:exon19:c.A1679T:p.E560V;ENSG00000141447:ENST00000357041:exon7:c.A533T:p.E178V;	0.883040287571879	0.692
18	21761242	T	C	18	24181278	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.A1679G:p.E560G;OSBPL1A:NM_001242508:exon7:c.A533G:p.E178G;OSBPL1A:NM_018030:exon5:c.A140G:p.E47G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.A140G:p.E47G;ENSG00000141447:ENST00000319481:exon19:c.A1679G:p.E560G;ENSG00000141447:ENST00000357041:exon7:c.A533G:p.E178G;	0.855957525921506	0.728
18	21761242	T	G	18	24181278	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.A1679C:p.E560A;OSBPL1A:NM_001242508:exon7:c.A533C:p.E178A;OSBPL1A:NM_018030:exon5:c.A140C:p.E47A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.A140C:p.E47A;ENSG00000141447:ENST00000319481:exon19:c.A1679C:p.E560A;ENSG00000141447:ENST00000357041:exon7:c.A533C:p.E178A;	0.888403668890287	0.736
18	21761243	C	A	18	24181279	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon19:c.G1678T:p.E560X;OSBPL1A:NM_001242508:exon7:c.G532T:p.E178X;OSBPL1A:NM_018030:exon5:c.G139T:p.E47X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon5:c.G139T:p.E47X;ENSG00000141447:ENST00000319481:exon19:c.G1678T:p.E560X;ENSG00000141447:ENST00000357041:exon7:c.G532T:p.E178X;	0.999966274866804	0.986
18	21761243	C	G	18	24181279	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.G1678C:p.E560Q;OSBPL1A:NM_001242508:exon7:c.G532C:p.E178Q;OSBPL1A:NM_018030:exon5:c.G139C:p.E47Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.G139C:p.E47Q;ENSG00000141447:ENST00000319481:exon19:c.G1678C:p.E560Q;ENSG00000141447:ENST00000357041:exon7:c.G532C:p.E178Q;	0.999952639579156	0.984
18	21761243	C	T	18	24181279	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon19:c.G1678A:p.E560K;OSBPL1A:NM_001242508:exon7:c.G532A:p.E178K;OSBPL1A:NM_018030:exon5:c.G139A:p.E47K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon5:c.G139A:p.E47K;ENSG00000141447:ENST00000319481:exon19:c.G1678A:p.E560K;ENSG00000141447:ENST00000357041:exon7:c.G532A:p.E178K;	0.999930295206078	0.954
18	21761244	C	A	18	24181280	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.532-1G>T;NM_080597:exon20:c.1678-1G>T;NM_018030:exon6:c.139-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1678-1G>T;ENST00000399443:exon6:c.139-1G>T;ENST00000357041:exon8:c.532-1G>T)	.	.	0.999991412108771	0.938
18	21761244	C	G	18	24181280	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.532-1G>C;NM_080597:exon20:c.1678-1G>C;NM_018030:exon6:c.139-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1678-1G>C;ENST00000399443:exon6:c.139-1G>C;ENST00000357041:exon8:c.532-1G>C)	.	.	0.999991412108771	0.938
18	21761244	C	T	18	24181280	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.532-1G>A;NM_080597:exon20:c.1678-1G>A;NM_018030:exon6:c.139-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1678-1G>A;ENST00000399443:exon6:c.139-1G>A;ENST00000357041:exon8:c.532-1G>A)	.	.	0.999991412108771	0.938
18	21761245	T	A	18	24181281	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.532-2A>T;NM_080597:exon20:c.1678-2A>T;NM_018030:exon6:c.139-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1678-2A>T;ENST00000399443:exon6:c.139-2A>T;ENST00000357041:exon8:c.532-2A>T)	.	.	0.999990764389106	0.942
18	21761245	T	C	18	24181281	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.532-2A>G;NM_080597:exon20:c.1678-2A>G;NM_018030:exon6:c.139-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1678-2A>G;ENST00000399443:exon6:c.139-2A>G;ENST00000357041:exon8:c.532-2A>G)	.	.	0.999990764389106	0.942
18	21761245	T	G	18	24181281	y	y	splicing	OSBPL1A(NM_001242508:exon8:c.532-2A>C;NM_080597:exon20:c.1678-2A>C;NM_018030:exon6:c.139-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon20:c.1678-2A>C;ENST00000399443:exon6:c.139-2A>C;ENST00000357041:exon8:c.532-2A>C)	.	.	0.999990764389106	0.942
18	21761246	A	C	18	24181282	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.996109364845921	0.648
18	21761246	A	G	18	24181282	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.28174460125943E-5	0.014
18	21761246	A	T	18	24181282	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.37022486222301	0.448
18	21761247	T	A	18	24181283	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.77011383207716E-4	0.026
18	21761247	T	C	18	24181283	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99992858299643	0.986
18	21761247	T	G	18	24181283	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.72239577450779E-4	0.036
18	21761248	T	A	18	24181284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.02706899603687E-4	0.08
18	21761248	T	C	18	24181284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999832074333885	0.982
18	21761248	T	G	18	24181284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.55350193847154E-4	0.018
18	21761249	T	A	18	24181285	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.00356678912479E-5	0.0
18	21761249	T	C	18	24181285	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.17095332871911E-5	0.008
18	21761249	T	G	18	24181285	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.15907774097948E-5	0.058
18	21761250	A	C	18	24181286	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0134523717448443	0.174
18	21761250	A	G	18	24181286	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.00393798937849E-4	0.026
18	21761250	A	T	18	24181286	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.505856806983831	0.548
18	21761251	A	C	18	24181287	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0848669205654455	0.432
18	21761251	A	G	18	24181287	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.00651140222023E-4	0.002
18	21761251	A	T	18	24181287	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.419746857270645	0.448
18	21761252	C	A	18	24181288	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.75795086206998E-5	0.078
18	21761252	C	G	18	24181288	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.97336075671208E-5	0.002
18	21761252	C	T	18	24181288	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.87043917415917E-4	0.002
18	21761253	C	A	18	24181289	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.33708538936662E-5	0.01
18	21761253	C	G	18	24181289	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.16500230691865E-5	0.0
18	21761253	C	T	18	24181289	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999332276101871	0.944
18	21761254	A	C	18	24181290	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.844247484254693	0.778
18	21761254	A	G	18	24181290	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.112471850261802	0.324
18	21761254	A	T	18	24181290	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999956949308523	0.994
18	21761255	G	A	18	24181291	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.94187467245799E-4	0.002
18	21761255	G	C	18	24181291	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00149891276588218	0.14
18	21761255	G	T	18	24181291	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00283842747024878	0.084
18	21776081	T	A	18	24196117	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.78389654127837E-5	0.0
18	21776081	T	C	18	24196117	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00238747618807476	0.052
18	21776081	T	G	18	24196117	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.78389654127837E-5	0.0
18	21776082	A	C	18	24196118	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.79416880097828E-4	0.002
18	21776082	A	G	18	24196118	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.28743557362473E-4	0.002
18	21776082	A	T	18	24196118	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.86930628804395E-5	0.002
18	21776083	A	C	18	24196119	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.428946203047498	0.644
18	21776083	A	G	18	24196119	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.860500520437527	0.832
18	21776083	A	T	18	24196119	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.936725534770567	0.724
18	21776084	T	A	18	24196120	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.74481253881704E-4	0.086
18	21776084	T	C	18	24196120	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.22336350543424E-5	0.034
18	21776084	T	G	18	24196120	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00148726340848289	0.186
18	21776085	T	A	18	24196121	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.977576785826965	0.844
18	21776085	T	C	18	24196121	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.954151643573123	0.862
18	21776085	T	G	18	24196121	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.777042350669285	0.64
18	21776086	T	A	18	24196122	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999689265478527	0.954
18	21776086	T	C	18	24196122	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.993866107097993	0.756
18	21776086	T	G	18	24196122	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999647736095551	0.922
18	21776087	A	C	18	24196123	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.531+2T>G;NM_080597:exon19:c.1677+2T>G;NM_018030:exon5:c.138+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1677+2T>G;ENST00000399443:exon5:c.138+2T>G;ENST00000357041:exon7:c.531+2T>G;ENST00000578055:exon5:c.138+2T>G)	.	.	0.999989917668626	0.948
18	21776087	A	G	18	24196123	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.531+2T>C;NM_080597:exon19:c.1677+2T>C;NM_018030:exon5:c.138+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1677+2T>C;ENST00000399443:exon5:c.138+2T>C;ENST00000357041:exon7:c.531+2T>C;ENST00000578055:exon5:c.138+2T>C)	.	.	0.993179459523591	0.632
18	21776087	A	T	18	24196123	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.531+2T>A;NM_080597:exon19:c.1677+2T>A;NM_018030:exon5:c.138+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1677+2T>A;ENST00000399443:exon5:c.138+2T>A;ENST00000357041:exon7:c.531+2T>A;ENST00000578055:exon5:c.138+2T>A)	.	.	0.999989917668626	0.948
18	21776088	C	A	18	24196124	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.531+1G>T;NM_080597:exon19:c.1677+1G>T;NM_018030:exon5:c.138+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1677+1G>T;ENST00000399443:exon5:c.138+1G>T;ENST00000357041:exon7:c.531+1G>T;ENST00000578055:exon5:c.138+1G>T)	.	.	0.999981760802075	0.954
18	21776088	C	G	18	24196124	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.531+1G>C;NM_080597:exon19:c.1677+1G>C;NM_018030:exon5:c.138+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1677+1G>C;ENST00000399443:exon5:c.138+1G>C;ENST00000357041:exon7:c.531+1G>C;ENST00000578055:exon5:c.138+1G>C)	.	.	0.999981760802075	0.954
18	21776088	C	T	18	24196124	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.531+1G>A;NM_080597:exon19:c.1677+1G>A;NM_018030:exon5:c.138+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1677+1G>A;ENST00000399443:exon5:c.138+1G>A;ENST00000357041:exon7:c.531+1G>A;ENST00000578055:exon5:c.138+1G>A)	.	.	0.999981760802075	0.954
18	21776089	C	A	18	24196125	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.G1677T:p.M559I;OSBPL1A:NM_001242508:exon6:c.G531T:p.M177I;OSBPL1A:NM_018030:exon4:c.G138T:p.M46I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.G138T:p.M46I;ENSG00000141447:ENST00000319481:exon18:c.G1677T:p.M559I;ENSG00000141447:ENST00000578055:exon4:c.G138T:p.M46I;ENSG00000141447:ENST00000357041:exon6:c.G531T:p.M177I;	0.999987469944553	1.0
18	21776089	C	G	18	24196125	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.G1677C:p.M559I;OSBPL1A:NM_001242508:exon6:c.G531C:p.M177I;OSBPL1A:NM_018030:exon4:c.G138C:p.M46I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.G138C:p.M46I;ENSG00000141447:ENST00000319481:exon18:c.G1677C:p.M559I;ENSG00000141447:ENST00000578055:exon4:c.G138C:p.M46I;ENSG00000141447:ENST00000357041:exon6:c.G531C:p.M177I;	0.999997690078459	1.0
18	21776089	C	T	18	24196125	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.G1677A:p.M559I;OSBPL1A:NM_001242508:exon6:c.G531A:p.M177I;OSBPL1A:NM_018030:exon4:c.G138A:p.M46I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.G138A:p.M46I;ENSG00000141447:ENST00000319481:exon18:c.G1677A:p.M559I;ENSG00000141447:ENST00000578055:exon4:c.G138A:p.M46I;ENSG00000141447:ENST00000357041:exon6:c.G531A:p.M177I;	0.999990794728237	1.0
18	21776090	A	C	18	24196126	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.T1676G:p.M559R;OSBPL1A:NM_001242508:exon6:c.T530G:p.M177R;OSBPL1A:NM_018030:exon4:c.T137G:p.M46R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.T137G:p.M46R;ENSG00000141447:ENST00000319481:exon18:c.T1676G:p.M559R;ENSG00000141447:ENST00000578055:exon4:c.T137G:p.M46R;ENSG00000141447:ENST00000357041:exon6:c.T530G:p.M177R;	0.211171960211974	0.416
18	21776090	A	G	18	24196126	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.T1676C:p.M559T;OSBPL1A:NM_001242508:exon6:c.T530C:p.M177T;OSBPL1A:NM_018030:exon4:c.T137C:p.M46T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.T137C:p.M46T;ENSG00000141447:ENST00000319481:exon18:c.T1676C:p.M559T;ENSG00000141447:ENST00000578055:exon4:c.T137C:p.M46T;ENSG00000141447:ENST00000357041:exon6:c.T530C:p.M177T;	0.926287862044197	0.81
18	21776090	A	T	18	24196126	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.T1676A:p.M559K;OSBPL1A:NM_001242508:exon6:c.T530A:p.M177K;OSBPL1A:NM_018030:exon4:c.T137A:p.M46K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.T137A:p.M46K;ENSG00000141447:ENST00000319481:exon18:c.T1676A:p.M559K;ENSG00000141447:ENST00000578055:exon4:c.T137A:p.M46K;ENSG00000141447:ENST00000357041:exon6:c.T530A:p.M177K;	0.00185573376961238	0.144
18	21776091	T	A	18	24196127	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.A1675T:p.M559L;OSBPL1A:NM_001242508:exon6:c.A529T:p.M177L;OSBPL1A:NM_018030:exon4:c.A136T:p.M46L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A136T:p.M46L;ENSG00000141447:ENST00000319481:exon18:c.A1675T:p.M559L;ENSG00000141447:ENST00000578055:exon4:c.A136T:p.M46L;ENSG00000141447:ENST00000357041:exon6:c.A529T:p.M177L;	0.992264814575367	0.798
18	21776091	T	C	18	24196127	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.A1675G:p.M559V;OSBPL1A:NM_001242508:exon6:c.A529G:p.M177V;OSBPL1A:NM_018030:exon4:c.A136G:p.M46V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A136G:p.M46V;ENSG00000141447:ENST00000319481:exon18:c.A1675G:p.M559V;ENSG00000141447:ENST00000578055:exon4:c.A136G:p.M46V;ENSG00000141447:ENST00000357041:exon6:c.A529G:p.M177V;	0.338717011144267	0.428
18	21776091	T	G	18	24196127	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.A1675C:p.M559L;OSBPL1A:NM_001242508:exon6:c.A529C:p.M177L;OSBPL1A:NM_018030:exon4:c.A136C:p.M46L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A136C:p.M46L;ENSG00000141447:ENST00000319481:exon18:c.A1675C:p.M559L;ENSG00000141447:ENST00000578055:exon4:c.A136C:p.M46L;ENSG00000141447:ENST00000357041:exon6:c.A529C:p.M177L;	0.442503041862367	0.58
18	21776163	T	A	18	24196199	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.A1603T:p.T535S;OSBPL1A:NM_001242508:exon6:c.A457T:p.T153S;OSBPL1A:NM_018030:exon4:c.A64T:p.T22S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A64T:p.T22S;ENSG00000141447:ENST00000319481:exon18:c.A1603T:p.T535S;ENSG00000141447:ENST00000578055:exon4:c.A64T:p.T22S;ENSG00000141447:ENST00000357041:exon6:c.A457T:p.T153S;	0.615979064703997	0.778
18	21776163	T	C	18	24196199	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.A1603G:p.T535A;OSBPL1A:NM_001242508:exon6:c.A457G:p.T153A;OSBPL1A:NM_018030:exon4:c.A64G:p.T22A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A64G:p.T22A;ENSG00000141447:ENST00000319481:exon18:c.A1603G:p.T535A;ENSG00000141447:ENST00000578055:exon4:c.A64G:p.T22A;ENSG00000141447:ENST00000357041:exon6:c.A457G:p.T153A;	0.756857559744044	0.706
18	21776163	T	G	18	24196199	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.A1603C:p.T535P;OSBPL1A:NM_001242508:exon6:c.A457C:p.T153P;OSBPL1A:NM_018030:exon4:c.A64C:p.T22P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A64C:p.T22P;ENSG00000141447:ENST00000319481:exon18:c.A1603C:p.T535P;ENSG00000141447:ENST00000578055:exon4:c.A64C:p.T22P;ENSG00000141447:ENST00000357041:exon6:c.A457C:p.T153P;	0.805204204131795	0.816
18	21776164	T	A	18	24196200	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.A1602T:p.R534S;OSBPL1A:NM_001242508:exon6:c.A456T:p.R152S;OSBPL1A:NM_018030:exon4:c.A63T:p.R21S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A63T:p.R21S;ENSG00000141447:ENST00000319481:exon18:c.A1602T:p.R534S;ENSG00000141447:ENST00000578055:exon4:c.A63T:p.R21S;ENSG00000141447:ENST00000357041:exon6:c.A456T:p.R152S;	1.92203943355595E-4	0.102
18	21776164	T	C	18	24196200	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon18:c.A1602G:p.R534R;OSBPL1A:NM_001242508:exon6:c.A456G:p.R152R;OSBPL1A:NM_018030:exon4:c.A63G:p.R21R;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A63G:p.R21R;ENSG00000141447:ENST00000319481:exon18:c.A1602G:p.R534R;ENSG00000141447:ENST00000578055:exon4:c.A63G:p.R21R;ENSG00000141447:ENST00000357041:exon6:c.A456G:p.R152R;	2.44988595905322E-5	0.0
18	21776164	T	G	18	24196200	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon18:c.A1602C:p.R534S;OSBPL1A:NM_001242508:exon6:c.A456C:p.R152S;OSBPL1A:NM_018030:exon4:c.A63C:p.R21S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon4:c.A63C:p.R21S;ENSG00000141447:ENST00000319481:exon18:c.A1602C:p.R534S;ENSG00000141447:ENST00000578055:exon4:c.A63C:p.R21S;ENSG00000141447:ENST00000357041:exon6:c.A456C:p.R152S;	1.07777750378149E-4	0.112
18	21776165	C	A	18	24196201	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.456-1G>T;NM_080597:exon19:c.1602-1G>T;NM_018030:exon5:c.63-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1602-1G>T;ENST00000399443:exon5:c.63-1G>T;ENST00000357041:exon7:c.456-1G>T;ENST00000578055:exon5:c.63-1G>T)	.	.	0.999981760802075	0.944
18	21776165	C	G	18	24196201	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.456-1G>C;NM_080597:exon19:c.1602-1G>C;NM_018030:exon5:c.63-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1602-1G>C;ENST00000399443:exon5:c.63-1G>C;ENST00000357041:exon7:c.456-1G>C;ENST00000578055:exon5:c.63-1G>C)	.	.	0.999981760802075	0.944
18	21776165	C	T	18	24196201	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.456-1G>A;NM_080597:exon19:c.1602-1G>A;NM_018030:exon5:c.63-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1602-1G>A;ENST00000399443:exon5:c.63-1G>A;ENST00000357041:exon7:c.456-1G>A;ENST00000578055:exon5:c.63-1G>A)	.	.	0.999981760802075	0.944
18	21776166	T	A	18	24196202	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.456-2A>T;NM_080597:exon19:c.1602-2A>T;NM_018030:exon5:c.63-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1602-2A>T;ENST00000399443:exon5:c.63-2A>T;ENST00000357041:exon7:c.456-2A>T;ENST00000578055:exon5:c.63-2A>T)	.	.	0.999989917668626	0.928
18	21776166	T	C	18	24196202	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.456-2A>G;NM_080597:exon19:c.1602-2A>G;NM_018030:exon5:c.63-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1602-2A>G;ENST00000399443:exon5:c.63-2A>G;ENST00000357041:exon7:c.456-2A>G;ENST00000578055:exon5:c.63-2A>G)	.	.	0.999989917668626	0.928
18	21776166	T	G	18	24196202	y	y	splicing	OSBPL1A(NM_001242508:exon7:c.456-2A>C;NM_080597:exon19:c.1602-2A>C;NM_018030:exon5:c.63-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon19:c.1602-2A>C;ENST00000399443:exon5:c.63-2A>C;ENST00000357041:exon7:c.456-2A>C;ENST00000578055:exon5:c.63-2A>C)	.	.	0.999989917668626	0.928
18	21776167	G	A	18	24196203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0476890945749403	0.282
18	21776167	G	C	18	24196203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999332464649419	0.914
18	21776167	G	T	18	24196203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.774706421758842	0.592
18	21776168	A	C	18	24196204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.06899102695317E-4	0.008
18	21776168	A	G	18	24196204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.89580562890049E-4	0.01
18	21776168	A	T	18	24196204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.68264750590522E-4	0.004
18	21776169	A	C	18	24196205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00287917140669302	0.23
18	21776169	A	G	18	24196205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00264819836319296	0.026
18	21776169	A	T	18	24196205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00126238467877359	0.17
18	21776170	A	C	18	24196206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00350789541534287	0.2
18	21776170	A	G	18	24196206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.24448867588139E-4	0.03
18	21776170	A	T	18	24196206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00552367162317805	0.238
18	21776171	A	C	18	24196207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.15696861657553E-4	0.056
18	21776171	A	G	18	24196207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.0702159179971E-4	0.004
18	21776171	A	T	18	24196207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00266823789333512	0.072
18	21776172	A	C	18	24196208	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.67495911913423E-4	0.032
18	21776172	A	G	18	24196208	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.16053122769332E-4	0.008
18	21776172	A	T	18	24196208	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00147145415290675	0.044
18	21776173	A	C	18	24196209	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.37655684419991E-4	0.07
18	21776173	A	G	18	24196209	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.54725590550877E-5	0.042
18	21776173	A	T	18	24196209	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.54994436218882E-4	0.114
18	21776174	G	A	18	24196210	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.25889188059635E-5	0.006
18	21776174	G	C	18	24196210	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.13350265689694E-4	0.038
18	21776174	G	T	18	24196210	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.49410694093794E-4	0.056
18	21776175	A	C	18	24196211	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.249025695918066	0.468
18	21776175	A	G	18	24196211	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.123127638468162	0.344
18	21776175	A	T	18	24196211	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.354101565781288	0.518
18	21776176	A	C	18	24196212	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.198147756807687	0.45
18	21776176	A	G	18	24196212	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.205335445143836	0.406
18	21776176	A	T	18	24196212	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.363087265409301	0.474
18	21804998	G	A	18	24225034	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.54590053488069E-5	0.004
18	21804998	G	C	18	24225034	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.9706828452883E-5	0.002
18	21804998	G	T	18	24225034	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.9706828452883E-5	0.0
18	21804999	A	C	18	24225035	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.39482774895477E-5	0.002
18	21804999	A	G	18	24225035	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.22052569811162E-5	0.0
18	21804999	A	T	18	24225035	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.23986773567894E-5	0.0
18	21805000	T	A	18	24225036	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.02900921183552E-5	0.01
18	21805000	T	C	18	24225036	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.13382265421123E-5	0.0
18	21805000	T	G	18	24225036	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.04912161697496E-4	0.004
18	21805001	C	A	18	24225037	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99965267733461	0.732
18	21805001	C	G	18	24225037	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998395209758752	0.726
18	21805001	C	T	18	24225037	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.929386606014797	0.604
18	21805002	C	A	18	24225038	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.21604873656728E-5	0.002
18	21805002	C	G	18	24225038	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.72032512405246E-5	0.004
18	21805002	C	T	18	24225038	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.95458066298134E-4	0.032
18	21805003	T	A	18	24225039	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.973217354452302	0.62
18	21805003	T	C	18	24225039	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.113788591044855	0.3
18	21805003	T	G	18	24225039	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.982459311669763	0.626
18	21805004	A	C	18	24225040	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.455+2T>G;NM_080597:exon18:c.1601+2T>G;NM_018030:exon4:c.62+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1601+2T>G;ENST00000399443:exon4:c.62+2T>G;ENST00000357041:exon6:c.455+2T>G;ENST00000578055:exon4:c.62+2T>G)	.	.	0.999964896440643	0.938
18	21805004	A	G	18	24225040	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.455+2T>C;NM_080597:exon18:c.1601+2T>C;NM_018030:exon4:c.62+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1601+2T>C;ENST00000399443:exon4:c.62+2T>C;ENST00000357041:exon6:c.455+2T>C;ENST00000578055:exon4:c.62+2T>C)	.	.	0.971898939314762	0.644
18	21805004	A	T	18	24225040	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.455+2T>A;NM_080597:exon18:c.1601+2T>A;NM_018030:exon4:c.62+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1601+2T>A;ENST00000399443:exon4:c.62+2T>A;ENST00000357041:exon6:c.455+2T>A;ENST00000578055:exon4:c.62+2T>A)	.	.	0.999946188727699	0.94
18	21805005	C	A	18	24225041	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.455+1G>T;NM_080597:exon18:c.1601+1G>T;NM_018030:exon4:c.62+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1601+1G>T;ENST00000399443:exon4:c.62+1G>T;ENST00000357041:exon6:c.455+1G>T;ENST00000578055:exon4:c.62+1G>T)	.	.	0.99995586615188	0.94
18	21805005	C	G	18	24225041	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.455+1G>C;NM_080597:exon18:c.1601+1G>C;NM_018030:exon4:c.62+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1601+1G>C;ENST00000399443:exon4:c.62+1G>C;ENST00000357041:exon6:c.455+1G>C;ENST00000578055:exon4:c.62+1G>C)	.	.	0.999971209564868	0.938
18	21805005	C	T	18	24225041	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.455+1G>A;NM_080597:exon18:c.1601+1G>A;NM_018030:exon4:c.62+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1601+1G>A;ENST00000399443:exon4:c.62+1G>A;ENST00000357041:exon6:c.455+1G>A;ENST00000578055:exon4:c.62+1G>A)	.	.	0.99995586615188	0.944
18	21805006	C	A	18	24225042	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.G1601T:p.R534I;OSBPL1A:NM_001242508:exon5:c.G455T:p.R152I;OSBPL1A:NM_018030:exon3:c.G62T:p.R21I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon3:c.G62T:p.R21I;ENSG00000141447:ENST00000319481:exon17:c.G1601T:p.R534I;ENSG00000141447:ENST00000578055:exon3:c.G62T:p.R21I;ENSG00000141447:ENST00000357041:exon5:c.G455T:p.R152I;	0.999993115420539	1.0
18	21805006	C	G	18	24225042	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.G1601C:p.R534T;OSBPL1A:NM_001242508:exon5:c.G455C:p.R152T;OSBPL1A:NM_018030:exon3:c.G62C:p.R21T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon3:c.G62C:p.R21T;ENSG00000141447:ENST00000319481:exon17:c.G1601C:p.R534T;ENSG00000141447:ENST00000578055:exon3:c.G62C:p.R21T;ENSG00000141447:ENST00000357041:exon5:c.G455C:p.R152T;	0.999998174301936	0.968
18	21805006	C	T	18	24225042	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.G1601A:p.R534K;OSBPL1A:NM_001242508:exon5:c.G455A:p.R152K;OSBPL1A:NM_018030:exon3:c.G62A:p.R21K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon3:c.G62A:p.R21K;ENSG00000141447:ENST00000319481:exon17:c.G1601A:p.R534K;ENSG00000141447:ENST00000578055:exon3:c.G62A:p.R21K;ENSG00000141447:ENST00000357041:exon5:c.G455A:p.R152K;	0.999989401404497	0.998
18	21805007	T	A	18	24225043	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon17:c.A1600T:p.R534X;OSBPL1A:NM_001242508:exon5:c.A454T:p.R152X;OSBPL1A:NM_018030:exon3:c.A61T:p.R21X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000399443:exon3:c.A61T:p.R21X;ENSG00000141447:ENST00000319481:exon17:c.A1600T:p.R534X;ENSG00000141447:ENST00000578055:exon3:c.A61T:p.R21X;ENSG00000141447:ENST00000357041:exon5:c.A454T:p.R152X;	0.999237740990507	0.834
18	21805007	T	C	18	24225043	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.A1600G:p.R534G;OSBPL1A:NM_001242508:exon5:c.A454G:p.R152G;OSBPL1A:NM_018030:exon3:c.A61G:p.R21G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon3:c.A61G:p.R21G;ENSG00000141447:ENST00000319481:exon17:c.A1600G:p.R534G;ENSG00000141447:ENST00000578055:exon3:c.A61G:p.R21G;ENSG00000141447:ENST00000357041:exon5:c.A454G:p.R152G;	0.948945026007389	0.692
18	21805007	T	G	18	24225043	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon17:c.A1600C:p.R534R;OSBPL1A:NM_001242508:exon5:c.A454C:p.R152R;OSBPL1A:NM_018030:exon3:c.A61C:p.R21R;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon3:c.A61C:p.R21R;ENSG00000141447:ENST00000319481:exon17:c.A1600C:p.R534R;ENSG00000141447:ENST00000578055:exon3:c.A61C:p.R21R;ENSG00000141447:ENST00000357041:exon5:c.A454C:p.R152R;	0.381683272169821	0.576
18	21805008	G	A	18	24225044	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon17:c.C1599T:p.H533H;OSBPL1A:NM_001242508:exon5:c.C453T:p.H151H;OSBPL1A:NM_018030:exon3:c.C60T:p.H20H;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000399443:exon3:c.C60T:p.H20H;ENSG00000141447:ENST00000319481:exon17:c.C1599T:p.H533H;ENSG00000141447:ENST00000578055:exon3:c.C60T:p.H20H;ENSG00000141447:ENST00000357041:exon5:c.C453T:p.H151H;	0.0201064589954908	0.312
18	21805008	G	C	18	24225044	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.C1599G:p.H533Q;OSBPL1A:NM_001242508:exon5:c.C453G:p.H151Q;OSBPL1A:NM_018030:exon3:c.C60G:p.H20Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon3:c.C60G:p.H20Q;ENSG00000141447:ENST00000319481:exon17:c.C1599G:p.H533Q;ENSG00000141447:ENST00000578055:exon3:c.C60G:p.H20Q;ENSG00000141447:ENST00000357041:exon5:c.C453G:p.H151Q;	9.51882385529428E-5	0.05
18	21805008	G	T	18	24225044	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.C1599A:p.H533Q;OSBPL1A:NM_001242508:exon5:c.C453A:p.H151Q;OSBPL1A:NM_018030:exon3:c.C60A:p.H20Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399443:exon3:c.C60A:p.H20Q;ENSG00000141447:ENST00000319481:exon17:c.C1599A:p.H533Q;ENSG00000141447:ENST00000578055:exon3:c.C60A:p.H20Q;ENSG00000141447:ENST00000357041:exon5:c.C453A:p.H151Q;	1.33004993066989E-4	0.054
18	21805161	A	C	18	24225197	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.T1446G:p.D482E;OSBPL1A:NM_001242508:exon5:c.T300G:p.D100E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon17:c.T1446G:p.D482E;ENSG00000141447:ENST00000357041:exon5:c.T300G:p.D100E;	0.0229990673270338	0.086
18	21805161	A	G	18	24225197	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon17:c.T1446C:p.D482D;OSBPL1A:NM_001242508:exon5:c.T300C:p.D100D;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon17:c.T1446C:p.D482D;ENSG00000141447:ENST00000357041:exon5:c.T300C:p.D100D;	0.0155529461488306	0.104
18	21805161	A	T	18	24225197	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.T1446A:p.D482E;OSBPL1A:NM_001242508:exon5:c.T300A:p.D100E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon17:c.T1446A:p.D482E;ENSG00000141447:ENST00000357041:exon5:c.T300A:p.D100E;	0.0398616560847185	0.096
18	21805162	T	A	18	24225198	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.A1445T:p.D482V;OSBPL1A:NM_001242508:exon5:c.A299T:p.D100V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon17:c.A1445T:p.D482V;ENSG00000141447:ENST00000357041:exon5:c.A299T:p.D100V;	0.043000311108694	0.236
18	21805162	T	C	18	24225198	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.A1445G:p.D482G;OSBPL1A:NM_001242508:exon5:c.A299G:p.D100G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon17:c.A1445G:p.D482G;ENSG00000141447:ENST00000357041:exon5:c.A299G:p.D100G;	2.44696718082218E-4	0.004
18	21805162	T	G	18	24225198	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon17:c.A1445C:p.D482A;OSBPL1A:NM_001242508:exon5:c.A299C:p.D100A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon17:c.A1445C:p.D482A;ENSG00000141447:ENST00000357041:exon5:c.A299C:p.D100A;	0.142735442832652	0.242
18	21805163	C	A	18	24225199	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.299-1G>T;NM_080597:exon18:c.1445-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1445-1G>T;ENST00000357041:exon6:c.299-1G>T;ENST00000584119:exon7:c.331-1G>T)	.	.	0.999990361384395	0.938
18	21805163	C	G	18	24225199	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.299-1G>C;NM_080597:exon18:c.1445-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1445-1G>C;ENST00000357041:exon6:c.299-1G>C;ENST00000584119:exon7:c.331-1G>C)	.	.	0.999990361384395	0.938
18	21805163	C	T	18	24225199	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.299-1G>A;NM_080597:exon18:c.1445-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1445-1G>A;ENST00000357041:exon6:c.299-1G>A;ENST00000584119:exon7:c.331-1G>A)	.	.	0.999990361384395	0.938
18	21805164	T	A	18	24225200	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.299-2A>T;NM_080597:exon18:c.1445-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1445-2A>T;ENST00000357041:exon6:c.299-2A>T;ENST00000584119:exon7:c.331-2A>T)	.	.	0.999988247793601	0.93
18	21805164	T	C	18	24225200	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.299-2A>G;NM_080597:exon18:c.1445-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1445-2A>G;ENST00000357041:exon6:c.299-2A>G;ENST00000584119:exon7:c.331-2A>G)	.	.	0.999988247793601	0.93
18	21805164	T	G	18	24225200	y	y	splicing	OSBPL1A(NM_001242508:exon6:c.299-2A>C;NM_080597:exon18:c.1445-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon18:c.1445-2A>C;ENST00000357041:exon6:c.299-2A>C;ENST00000584119:exon7:c.331-2A>C)	.	.	0.999988247793601	0.93
18	21805165	G	A	18	24225201	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.161942575851772	0.258
18	21805165	G	C	18	24225201	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999956868990796	0.972
18	21805165	G	T	18	24225201	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998667748533237	0.954
18	21805166	T	A	18	24225202	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.88830568993143E-4	0.018
18	21805166	T	C	18	24225202	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.3315924462466E-4	0.024
18	21805166	T	G	18	24225202	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.16213151840507E-4	0.016
18	21805167	G	A	18	24225203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.003697633722888	0.04
18	21805167	G	C	18	24225203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.564009296916104	0.416
18	21805167	G	T	18	24225203	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.537429267905842	0.424
18	21805168	G	A	18	24225204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.36021549190113E-5	0.01
18	21805168	G	C	18	24225204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.011739781821024	0.256
18	21805168	G	T	18	24225204	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00922654465055778	0.234
18	21805169	C	A	18	24225205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.23871401793786E-4	0.006
18	21805169	C	G	18	24225205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.81117010248391E-4	0.026
18	21805169	C	T	18	24225205	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.72294884954411E-4	0.022
18	21805170	A	C	18	24225206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0399712130580077	0.338
18	21805170	A	G	18	24225206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.66115175756098E-4	0.028
18	21805170	A	T	18	24225206	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999876849262917	0.976
18	21805171	G	A	18	24225207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.430949473707131	0.49
18	21805171	G	C	18	24225207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0700458837288299	0.276
18	21805171	G	T	18	24225207	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.307696850957585	0.386
18	21805172	A	C	18	24225208	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998583370916158	0.922
18	21805172	A	G	18	24225208	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.818267700328058	0.47
18	21805172	A	T	18	24225208	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999239111680395	0.916
18	21805173	G	A	18	24225209	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.88985459940453E-5	0.044
18	21805173	G	C	18	24225209	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00615675542922103	0.06
18	21805173	G	T	18	24225209	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0245191546231646	0.102
18	21805174	C	A	18	24225210	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.44133160245178E-4	0.006
18	21805174	C	G	18	24225210	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.60086598678701E-5	0.002
18	21805174	C	T	18	24225210	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.34891594698899E-4	0.018
18	21819176	A	C	18	24239212	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.72682575842512E-4	0.002
18	21819176	A	G	18	24239212	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.67713437235037E-4	0.002
18	21819176	A	T	18	24239212	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.63153874326714E-4	0.008
18	21819177	G	A	18	24239213	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.53839060166157E-4	0.018
18	21819177	G	C	18	24239213	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.27242799555131E-4	0.01
18	21819177	G	T	18	24239213	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.5449372187602E-4	0.006
18	21819178	A	C	18	24239214	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00515053713443529	0.304
18	21819178	A	G	18	24239214	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00578881132436926	0.272
18	21819178	A	T	18	24239214	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00370034797782019	0.266
18	21819179	G	A	18	24239215	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.36765981928298E-4	0.006
18	21819179	G	C	18	24239215	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.05920258244565E-4	0.046
18	21819179	G	T	18	24239215	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.09055492722409E-5	0.036
18	21819180	T	A	18	24239216	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.90406318719446	0.494
18	21819180	T	C	18	24239216	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.85468867326907	0.444
18	21819180	T	G	18	24239216	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.902396348955244	0.428
18	21819181	T	A	18	24239217	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999922724885455	0.892
18	21819181	T	C	18	24239217	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.817846659694089	0.736
18	21819181	T	G	18	24239217	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998858870925474	0.92
18	21819182	A	C	18	24239218	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.298+2T>G;NM_080597:exon17:c.1444+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1444+2T>G;ENST00000357041:exon5:c.298+2T>G;ENST00000584119:exon6:c.330+2T>G)	.	.	0.999986607513753	0.92
18	21819182	A	G	18	24239218	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.298+2T>C;NM_080597:exon17:c.1444+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1444+2T>C;ENST00000357041:exon5:c.298+2T>C;ENST00000584119:exon6:c.330+2T>C)	.	.	0.993737977920058	0.58
18	21819182	A	T	18	24239218	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.298+2T>A;NM_080597:exon17:c.1444+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1444+2T>A;ENST00000357041:exon5:c.298+2T>A;ENST00000584119:exon6:c.330+2T>A)	.	.	0.999986607513753	0.92
18	21819183	C	A	18	24239219	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.298+1G>T;NM_080597:exon17:c.1444+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1444+1G>T;ENST00000357041:exon5:c.298+1G>T;ENST00000584119:exon6:c.330+1G>T)	.	.	0.999989263107695	0.936
18	21819183	C	G	18	24239219	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.298+1G>C;NM_080597:exon17:c.1444+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1444+1G>C;ENST00000357041:exon5:c.298+1G>C;ENST00000584119:exon6:c.330+1G>C)	.	.	0.999989263107695	0.936
18	21819183	C	T	18	24239219	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.298+1G>A;NM_080597:exon17:c.1444+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1444+1G>A;ENST00000357041:exon5:c.298+1G>A;ENST00000584119:exon6:c.330+1G>A)	.	.	0.999989263107695	0.936
18	21819184	C	A	18	24239220	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.G1444T:p.D482Y;OSBPL1A:NM_001242508:exon4:c.G298T:p.D100Y;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.G1444T:p.D482Y;ENSG00000141447:ENST00000357041:exon4:c.G298T:p.D100Y;	0.999558488240355	0.89
18	21819184	C	G	18	24239220	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.G1444C:p.D482H;OSBPL1A:NM_001242508:exon4:c.G298C:p.D100H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.G1444C:p.D482H;ENSG00000141447:ENST00000357041:exon4:c.G298C:p.D100H;	0.999933686653138	0.918
18	21819184	C	T	18	24239220	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.G1444A:p.D482N;OSBPL1A:NM_001242508:exon4:c.G298A:p.D100N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.G1444A:p.D482N;ENSG00000141447:ENST00000357041:exon4:c.G298A:p.D100N;	0.999869292594325	0.974
18	21819185	T	A	18	24239221	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon16:c.A1443T:p.S481S;OSBPL1A:NM_001242508:exon4:c.A297T:p.S99S;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.A1443T:p.S481S;ENSG00000141447:ENST00000357041:exon4:c.A297T:p.S99S;	0.999308541894313	0.996
18	21819185	T	C	18	24239221	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon16:c.A1443G:p.S481S;OSBPL1A:NM_001242508:exon4:c.A297G:p.S99S;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.A1443G:p.S481S;ENSG00000141447:ENST00000357041:exon4:c.A297G:p.S99S;	0.999125672847636	0.992
18	21819185	T	G	18	24239221	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon16:c.A1443C:p.S481S;OSBPL1A:NM_001242508:exon4:c.A297C:p.S99S;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.A1443C:p.S481S;ENSG00000141447:ENST00000357041:exon4:c.A297C:p.S99S;	0.988616093432336	0.924
18	21819186	G	A	18	24239222	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.C1442T:p.S481L;OSBPL1A:NM_001242508:exon4:c.C296T:p.S99L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.C1442T:p.S481L;ENSG00000141447:ENST00000357041:exon4:c.C296T:p.S99L;	0.998593421636646	0.912
18	21819186	G	C	18	24239222	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon16:c.C1442G:p.S481X;OSBPL1A:NM_001242508:exon4:c.C296G:p.S99X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon16:c.C1442G:p.S481X;ENSG00000141447:ENST00000357041:exon4:c.C296G:p.S99X;	0.937778096462916	0.652
18	21819186	G	T	18	24239222	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon16:c.C1442A:p.S481X;OSBPL1A:NM_001242508:exon4:c.C296A:p.S99X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon16:c.C1442A:p.S481X;ENSG00000141447:ENST00000357041:exon4:c.C296A:p.S99X;	0.937501781564135	0.858
18	21819345	A	C	18	24239381	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.T1283G:p.V428G;OSBPL1A:NM_001242508:exon4:c.T137G:p.V46G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.T1283G:p.V428G;ENSG00000141447:ENST00000357041:exon4:c.T137G:p.V46G;	0.00639374304187843	0.094
18	21819345	A	G	18	24239381	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.T1283C:p.V428A;OSBPL1A:NM_001242508:exon4:c.T137C:p.V46A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.T1283C:p.V428A;ENSG00000141447:ENST00000357041:exon4:c.T137C:p.V46A;	0.00141960105768414	0.03
18	21819345	A	T	18	24239381	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.T1283A:p.V428E;OSBPL1A:NM_001242508:exon4:c.T137A:p.V46E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.T1283A:p.V428E;ENSG00000141447:ENST00000357041:exon4:c.T137A:p.V46E;	0.00662080627951687	0.102
18	21819346	C	A	18	24239382	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.G1282T:p.V428L;OSBPL1A:NM_001242508:exon4:c.G136T:p.V46L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.G1282T:p.V428L;ENSG00000141447:ENST00000357041:exon4:c.G136T:p.V46L;	0.99974760303102	0.972
18	21819346	C	G	18	24239382	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.G1282C:p.V428L;OSBPL1A:NM_001242508:exon4:c.G136C:p.V46L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.G1282C:p.V428L;ENSG00000141447:ENST00000357041:exon4:c.G136C:p.V46L;	0.99958011197043	0.938
18	21819346	C	T	18	24239382	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon16:c.G1282A:p.V428M;OSBPL1A:NM_001242508:exon4:c.G136A:p.V46M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon16:c.G1282A:p.V428M;ENSG00000141447:ENST00000357041:exon4:c.G136A:p.V46M;	0.997550201490438	0.912
18	21819347	C	A	18	24239383	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.136-1G>T;NM_080597:exon17:c.1282-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1282-1G>T;ENST00000357041:exon5:c.136-1G>T;ENST00000584119:exon6:c.168-1G>T)	.	.	0.999990361384395	0.938
18	21819347	C	G	18	24239383	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.136-1G>C;NM_080597:exon17:c.1282-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1282-1G>C;ENST00000357041:exon5:c.136-1G>C;ENST00000584119:exon6:c.168-1G>C)	.	.	0.999990361384395	0.936
18	21819347	C	T	18	24239383	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.136-1G>A;NM_080597:exon17:c.1282-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1282-1G>A;ENST00000357041:exon5:c.136-1G>A;ENST00000584119:exon6:c.168-1G>A)	.	.	0.999990361384395	0.938
18	21819348	T	A	18	24239384	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.136-2A>T;NM_080597:exon17:c.1282-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1282-2A>T;ENST00000357041:exon5:c.136-2A>T;ENST00000584119:exon6:c.168-2A>T)	.	.	0.999988247793601	0.93
18	21819348	T	C	18	24239384	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.136-2A>G;NM_080597:exon17:c.1282-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1282-2A>G;ENST00000357041:exon5:c.136-2A>G;ENST00000584119:exon6:c.168-2A>G)	.	.	0.999988247793601	0.93
18	21819348	T	G	18	24239384	y	y	splicing	OSBPL1A(NM_001242508:exon5:c.136-2A>C;NM_080597:exon17:c.1282-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon17:c.1282-2A>C;ENST00000357041:exon5:c.136-2A>C;ENST00000584119:exon6:c.168-2A>C)	.	.	0.999988247793601	0.93
18	21819349	A	C	18	24239385	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.50525363506815	0.556
18	21819349	A	G	18	24239385	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.35164371322186E-5	0.024
18	21819349	A	T	18	24239385	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0158515066594028	0.25
18	21819350	G	A	18	24239386	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.6978339189594E-5	0.0
18	21819350	G	C	18	24239386	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.78390719319714E-5	0.0
18	21819350	G	T	18	24239386	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.49075805238183E-5	0.0
18	21819351	A	C	18	24239387	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.59452418852483E-4	0.14
18	21819351	A	G	18	24239387	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.73610768658207E-5	0.008
18	21819351	A	T	18	24239387	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00128335151399373	0.136
18	21819352	A	C	18	24239388	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0144512244729323	0.248
18	21819352	A	G	18	24239388	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.9589080051689E-4	0.03
18	21819352	A	T	18	24239388	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0069617847060521	0.216
18	21819353	G	A	18	24239389	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.77268303847171E-5	0.004
18	21819353	G	C	18	24239389	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.06955066749182E-4	0.052
18	21819353	G	T	18	24239389	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.36077726553059E-4	0.062
18	21819354	A	C	18	24239390	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.93052733954525E-4	0.062
18	21819354	A	G	18	24239390	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.48785249266313E-4	0.01
18	21819354	A	T	18	24239390	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00107892485342605	0.09
18	21819355	A	C	18	24239391	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00280349031675972	0.256
18	21819355	A	G	18	24239391	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.86304437976042E-4	0.02
18	21819355	A	T	18	24239391	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00157758622075918	0.192
18	21819356	A	C	18	24239392	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0034053300993731	0.202
18	21819356	A	G	18	24239392	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.43022311985555E-4	0.002
18	21819356	A	T	18	24239392	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00136738006772387	0.122
18	21819357	A	C	18	24239393	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0695919752325116	0.47
18	21819357	A	G	18	24239393	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00838049466870928	0.158
18	21819357	A	T	18	24239393	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0593252790833364	0.496
18	21819358	C	A	18	24239394	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.97390319781875E-5	0.0
18	21819358	C	G	18	24239394	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.88754445531775E-5	0.004
18	21819358	C	T	18	24239394	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.20268467916837E-5	0.004
18	21851578	C	A	18	24271614	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.72053721565016E-5	0.024
18	21851578	C	G	18	24271614	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.72053721565016E-5	0.03
18	21851578	C	T	18	24271614	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.72053721565016E-5	0.026
18	21851579	C	A	18	24271615	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0434475704153852	0.236
18	21851579	C	G	18	24271615	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0434475704153852	0.206
18	21851579	C	T	18	24271615	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0434475704153852	0.236
18	21851580	A	C	18	24271616	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.432280797039901	0.72
18	21851580	A	G	18	24271616	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.432280797039901	0.718
18	21851580	A	T	18	24271616	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.432280797039901	0.706
18	21851581	C	A	18	24271617	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.94542580367562	0.846
18	21851581	C	G	18	24271617	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.94542580367562	0.848
18	21851581	C	T	18	24271617	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.939545674960141	0.87
18	21851582	C	A	18	24271618	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.44073747143786E-4	0.158
18	21851582	C	G	18	24271618	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.44073747143786E-4	0.178
18	21851582	C	T	18	24271618	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.44073747143786E-4	0.156
18	21851583	T	A	18	24271619	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0189647356276145	0.134
18	21851583	T	C	18	24271619	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0189647356276145	0.13
18	21851583	T	G	18	24271619	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0189647356276145	0.13
18	21851584	A	C	18	24271620	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.0191715085042193	0.256
18	21851584	A	G	18	24271620	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.0191715085042193	0.256
18	21851584	A	T	18	24271620	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.0221261221553801	0.262
18	21851585	C	A	18	24271621	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.932993978959406	0.888
18	21851585	C	G	18	24271621	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.932993978959406	0.89
18	21851585	C	T	18	24271621	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.932993978959406	0.888
18	21851586	C	A	18	24271622	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.932993978959406	0.886
18	21851586	C	G	18	24271622	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.932993978959406	0.888
18	21851586	C	T	18	24271622	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.932993978959406	0.884
18	21851587	T	A	18	24271623	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.0221261221553801	0.262
18	21851587	T	C	18	24271623	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.0191715085042193	0.256
18	21851587	T	G	18	24271623	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.0191715085042193	0.256
18	21851588	G	A	18	24271624	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.060363047948819	0.288
18	21851588	G	C	18	24271624	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.0525769940009334	0.284
18	21851588	G	T	18	24271624	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.060363047948819	0.288
18	21860798	C	A	18	24280834	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.27188226390861E-4	0.0
18	21860798	C	G	18	24280834	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.5028762820246E-4	0.002
18	21860798	C	T	18	24280834	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.59559520280886E-4	0.0
18	21860799	T	A	18	24280835	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.59399159066446E-4	0.014
18	21860799	T	C	18	24280835	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.12484221496096E-4	0.028
18	21860799	T	G	18	24280835	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.28001151734084E-5	0.0
18	21860800	A	C	18	24280836	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.824350193388219	0.716
18	21860800	A	G	18	24280836	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.616221897443103	0.458
18	21860800	A	T	18	24280836	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.82046633377279	0.522
18	21860801	C	A	18	24280837	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99997608969669	0.994
18	21860801	C	G	18	24280837	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999989914010812	0.97
18	21860801	C	T	18	24280837	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999974697017529	0.994
18	21860802	C	A	18	24280838	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.4018744663118E-5	0.0
18	21860802	C	G	18	24280838	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.4018744663118E-5	0.008
18	21860802	C	T	18	24280838	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.16539552323827E-4	0.064
18	21860803	T	A	18	24280839	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999443067577182	0.912
18	21860803	T	C	18	24280839	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.978368523734394	0.786
18	21860803	T	G	18	24280839	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999236194763964	0.9
18	21860804	A	C	18	24280840	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.135+2T>G;NM_080597:exon16:c.1281+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1281+2T>G;ENST00000357041:exon4:c.135+2T>G;ENST00000584119:exon5:c.167+2T>G)	.	.	0.999965414246739	0.948
18	21860804	A	G	18	24280840	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.135+2T>C;NM_080597:exon16:c.1281+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1281+2T>C;ENST00000357041:exon4:c.135+2T>C;ENST00000584119:exon5:c.167+2T>C)	.	.	0.955709400496446	0.616
18	21860804	A	T	18	24280840	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.135+2T>A;NM_080597:exon16:c.1281+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1281+2T>A;ENST00000357041:exon4:c.135+2T>A;ENST00000584119:exon5:c.167+2T>A)	.	.	0.99996509239462	0.946
18	21860805	C	A	18	24280841	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.135+1G>T;NM_080597:exon16:c.1281+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1281+1G>T;ENST00000357041:exon4:c.135+1G>T;ENST00000584119:exon5:c.167+1G>T)	.	.	0.99994568797423	0.94
18	21860805	C	G	18	24280841	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.135+1G>C;NM_080597:exon16:c.1281+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1281+1G>C;ENST00000357041:exon4:c.135+1G>C;ENST00000584119:exon5:c.167+1G>C)	.	.	0.99994568797423	0.94
18	21860805	C	T	18	24280841	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.135+1G>A;NM_080597:exon16:c.1281+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1281+1G>A;ENST00000357041:exon4:c.135+1G>A;ENST00000584119:exon5:c.167+1G>A)	.	.	0.99994568797423	0.936
18	21860806	C	A	18	24280842	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon15:c.G1281T:p.G427G;OSBPL1A:NM_001242508:exon3:c.G135T:p.G45G;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1281T:p.G427G;ENSG00000141447:ENST00000357041:exon3:c.G135T:p.G45G;	0.999980725633881	0.878
18	21860806	C	G	18	24280842	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon15:c.G1281C:p.G427G;OSBPL1A:NM_001242508:exon3:c.G135C:p.G45G;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1281C:p.G427G;ENSG00000141447:ENST00000357041:exon3:c.G135C:p.G45G;	0.999985327222318	0.89
18	21860806	C	T	18	24280842	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon15:c.G1281A:p.G427G;OSBPL1A:NM_001242508:exon3:c.G135A:p.G45G;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1281A:p.G427G;ENSG00000141447:ENST00000357041:exon3:c.G135A:p.G45G;	0.999915425612231	0.946
18	21860807	C	A	18	24280843	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.G1280T:p.G427V;OSBPL1A:NM_001242508:exon3:c.G134T:p.G45V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1280T:p.G427V;ENSG00000141447:ENST00000357041:exon3:c.G134T:p.G45V;	0.0066164764641574	0.068
18	21860807	C	G	18	24280843	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.G1280C:p.G427A;OSBPL1A:NM_001242508:exon3:c.G134C:p.G45A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1280C:p.G427A;ENSG00000141447:ENST00000357041:exon3:c.G134C:p.G45A;	0.00233932317923858	0.044
18	21860807	C	T	18	24280843	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.G1280A:p.G427E;OSBPL1A:NM_001242508:exon3:c.G134A:p.G45E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1280A:p.G427E;ENSG00000141447:ENST00000357041:exon3:c.G134A:p.G45E;	3.96026814564044E-4	0.172
18	21860808	C	A	18	24280844	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.G1279T:p.G427W;OSBPL1A:NM_001242508:exon3:c.G133T:p.G45W;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1279T:p.G427W;ENSG00000141447:ENST00000357041:exon3:c.G133T:p.G45W;	1.13868762881999E-4	0.096
18	21860808	C	G	18	24280844	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.G1279C:p.G427R;OSBPL1A:NM_001242508:exon3:c.G133C:p.G45R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1279C:p.G427R;ENSG00000141447:ENST00000357041:exon3:c.G133C:p.G45R;	7.86827049830361E-6	0.01
18	21860808	C	T	18	24280844	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.G1279A:p.G427R;OSBPL1A:NM_001242508:exon3:c.G133A:p.G45R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.G1279A:p.G427R;ENSG00000141447:ENST00000357041:exon3:c.G133A:p.G45R;	7.77074525191566E-6	0.014
18	21860911	T	A	18	24280947	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.A1176T:p.E392D;OSBPL1A:NM_001242508:exon3:c.A30T:p.E10D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.A1176T:p.E392D;ENSG00000141447:ENST00000357041:exon3:c.A30T:p.E10D;ENSG00000141447:ENST00000584119:exon4:c.A62T:p.K21I;	8.16732639918043E-5	0.002
18	21860911	T	C	18	24280947	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon15:c.A1176G:p.E392E;OSBPL1A:NM_001242508:exon3:c.A30G:p.E10E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon4:c.A62G:p.K21R;	3.26871204043438E-4	0.04
18	21860911	T	G	18	24280947	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.A1176C:p.E392D;OSBPL1A:NM_001242508:exon3:c.A30C:p.E10D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.A1176C:p.E392D;ENSG00000141447:ENST00000357041:exon3:c.A30C:p.E10D;ENSG00000141447:ENST00000584119:exon4:c.A62C:p.K21T;	0.00109710624905964	0.026
18	21860912	T	A	18	24280948	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.A1175T:p.E392V;OSBPL1A:NM_001242508:exon3:c.A29T:p.E10V;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000584119:exon4:c.A61T:p.K21X;	0.281654278020534	0.486
18	21860912	T	C	18	24280948	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.A1175G:p.E392G;OSBPL1A:NM_001242508:exon3:c.A29G:p.E10G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.A1175G:p.E392G;ENSG00000141447:ENST00000357041:exon3:c.A29G:p.E10G;ENSG00000141447:ENST00000584119:exon4:c.A61G:p.K21E;	0.00493856231516327	0.046
18	21860912	T	G	18	24280948	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon15:c.A1175C:p.E392A;OSBPL1A:NM_001242508:exon3:c.A29C:p.E10A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon15:c.A1175C:p.E392A;ENSG00000141447:ENST00000357041:exon3:c.A29C:p.E10A;ENSG00000141447:ENST00000584119:exon4:c.A61C:p.K21Q;	0.00292572926633639	0.078
18	21860913	C	A	18	24280949	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.29-1G>T;NM_080597:exon16:c.1175-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1175-1G>T;ENST00000357041:exon4:c.29-1G>T;ENST00000584119:exon5:c.61-1G>T;ENST00000578091:exon15:c.1020-1G>T;ENST00000579851:exon14:c.1014-1G>T)	.	.	0.999988247793601	0.926
18	21860913	C	G	18	24280949	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.29-1G>C;NM_080597:exon16:c.1175-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1175-1G>C;ENST00000357041:exon4:c.29-1G>C;ENST00000584119:exon5:c.61-1G>C;ENST00000578091:exon15:c.1020-1G>C;ENST00000579851:exon14:c.1014-1G>C)	.	.	0.999988247793601	0.926
18	21860913	C	T	18	24280949	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.29-1G>A;NM_080597:exon16:c.1175-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1175-1G>A;ENST00000357041:exon4:c.29-1G>A;ENST00000584119:exon5:c.61-1G>A;ENST00000578091:exon15:c.1020-1G>A;ENST00000579851:exon14:c.1014-1G>A)	.	.	0.999988247793601	0.926
18	21860914	T	A	18	24280950	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.29-2A>T;NM_080597:exon16:c.1175-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1175-2A>T;ENST00000357041:exon4:c.29-2A>T;ENST00000584119:exon5:c.61-2A>T;ENST00000578091:exon15:c.1020-2A>T;ENST00000579851:exon14:c.1014-2A>T)	.	.	0.999992446697775	0.928
18	21860914	T	C	18	24280950	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.29-2A>G;NM_080597:exon16:c.1175-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1175-2A>G;ENST00000357041:exon4:c.29-2A>G;ENST00000584119:exon5:c.61-2A>G;ENST00000578091:exon15:c.1020-2A>G;ENST00000579851:exon14:c.1014-2A>G)	.	.	0.999992446697775	0.926
18	21860914	T	G	18	24280950	y	y	splicing	OSBPL1A(NM_001242508:exon4:c.29-2A>C;NM_080597:exon16:c.1175-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon16:c.1175-2A>C;ENST00000357041:exon4:c.29-2A>C;ENST00000584119:exon5:c.61-2A>C;ENST00000578091:exon15:c.1020-2A>C;ENST00000579851:exon14:c.1014-2A>C)	.	.	0.999992446697775	0.926
18	21860915	A	C	18	24280951	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.997996293739895	0.656
18	21860915	A	G	18	24280951	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.98352818114515E-4	0.034
18	21860915	A	T	18	24280951	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0122842101874229	0.214
18	21860916	T	A	18	24280952	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.25196481645691E-4	0.002
18	21860916	T	C	18	24280952	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.03288629569687E-4	0.0
18	21860916	T	G	18	24280952	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.84844810139033E-5	0.002
18	21860917	A	C	18	24280953	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00228912533771131	0.306
18	21860917	A	G	18	24280953	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00122372633986717	0.064
18	21860917	A	T	18	24280953	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00180589081472506	0.308
18	21860918	A	C	18	24280954	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.63756463244978E-4	0.13
18	21860918	A	G	18	24280954	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.67384943502848E-5	0.004
18	21860918	A	T	18	24280954	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.02004706134472E-4	0.06
18	21860919	A	C	18	24280955	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.12558856741125E-4	0.042
18	21860919	A	G	18	24280955	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.65104110696462E-4	0.002
18	21860919	A	T	18	24280955	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.69658885049193E-4	0.05
18	21860920	G	A	18	24280956	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.96235098107529E-5	0.0
18	21860920	G	C	18	24280956	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.54616906735027E-5	0.008
18	21860920	G	T	18	24280956	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.2214617477636E-5	0.006
18	21860921	A	C	18	24280957	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00174605343479207	0.178
18	21860921	A	G	18	24280957	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.36344707620374E-4	0.05
18	21860921	A	T	18	24280957	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00100953395894754	0.156
18	21860922	A	C	18	24280958	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.48508249021183E-5	0.068
18	21860922	A	G	18	24280958	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.36011365372567E-5	0.0
18	21860922	A	T	18	24280958	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.48456941424043E-4	0.03
18	21860923	A	C	18	24280959	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.44334094885084E-5	0.06
18	21860923	A	G	18	24280959	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.33152368644095E-5	0.01
18	21860923	A	T	18	24280959	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.21294827346514E-4	0.12
18	21860924	A	C	18	24280960	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0011883862690345	0.266
18	21860924	A	G	18	24280960	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.78074567960325E-4	0.04
18	21860924	A	T	18	24280960	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00250034374335674	0.282
18	21881249	A	C	18	24301285	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00152067379830319	0.006
18	21881249	A	G	18	24301285	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00152067379830319	0.006
18	21881249	A	T	18	24301285	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00225473075344595	0.01
18	21881250	T	A	18	24301286	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.53292460361593E-5	0.01
18	21881250	T	C	18	24301286	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.53292460361593E-5	0.008
18	21881250	T	G	18	24301286	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.53292460361593E-5	0.008
18	21881251	A	C	18	24301287	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.34150215537742E-5	0.0
18	21881251	A	G	18	24301287	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.34150215537742E-5	0.0
18	21881251	A	T	18	24301287	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.49778138453998E-5	0.0
18	21881252	C	A	18	24301288	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.95241758590049E-5	0.0
18	21881252	C	G	18	24301288	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.95241758590049E-5	0.0
18	21881252	C	T	18	24301288	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.95241758590049E-5	0.0
18	21881253	A	C	18	24301289	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.51166692036535E-4	0.006
18	21881253	A	G	18	24301289	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.51166692036535E-4	0.008
18	21881253	A	T	18	24301289	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00102211620560074	0.006
18	21881254	T	A	18	24301290	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.63225693782043E-5	0.006
18	21881254	T	C	18	24301290	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.63225693782043E-5	0.006
18	21881254	T	G	18	24301290	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.63225693782043E-5	0.006
18	21881255	A	C	18	24301291	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.60+2T>G)	.	.	4.7586829694842E-5	0.0
18	21881255	A	G	18	24301291	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.60+2T>C)	.	.	4.7586829694842E-5	0.0
18	21881255	A	T	18	24301291	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.60+2T>A)	.	.	4.7586829694842E-5	0.0
18	21881256	C	A	18	24301292	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.60+1G>T)	.	.	6.58461283867531E-5	0.002
18	21881256	C	G	18	24301292	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.60+1G>C)	.	.	6.58461283867531E-5	0.004
18	21881256	C	T	18	24301292	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.60+1G>A)	.	.	6.58461283867531E-5	0.002
18	21881257	C	A	18	24301293	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.G60T:p.M20I;	2.9956701379798E-5	0.0
18	21881257	C	G	18	24301293	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.G60C:p.M20I;	2.9956701379798E-5	0.012
18	21881257	C	T	18	24301293	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.G60A:p.M20I;	2.9956701379798E-5	0.0
18	21881258	A	C	18	24301294	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.T59G:p.M20R;	9.88268727426181E-4	0.01
18	21881258	A	G	18	24301294	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.T59C:p.M20T;	0.00132111254032692	0.068
18	21881258	A	T	18	24301294	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.T59A:p.M20K;	0.00102211620560074	0.006
18	21881259	T	A	18	24301295	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.A58T:p.M20L;	8.25896182624293E-5	0.008
18	21881259	T	C	18	24301295	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.A58G:p.M20V;	5.50552619103442E-5	0.004
18	21881259	T	G	18	24301295	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.A58C:p.M20L;	8.25896182624293E-5	0.004
18	21881287	A	C	18	24301323	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.T30G:p.D10E;	4.01592652402579E-5	0.0
18	21881287	A	G	18	24301323	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.T30C:p.D10D;	4.84677156046253E-5	0.0
18	21881287	A	T	18	24301323	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.T30A:p.D10E;	4.01592652402579E-5	0.0
18	21881288	T	A	18	24301324	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.A29T:p.D10V;	5.86075475573093E-5	0.0
18	21881288	T	C	18	24301324	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.A29G:p.D10G;	1.06520082605731E-4	0.0
18	21881288	T	G	18	24301324	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000584119:exon3:c.A29C:p.D10A;	1.06520082605731E-4	0.0
18	21881289	C	A	18	24301325	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.29-1G>T)	.	.	4.52932449848953E-5	0.004
18	21881289	C	G	18	24301325	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.29-1G>C)	.	.	4.52932449848953E-5	0.006
18	21881289	C	T	18	24301325	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.29-1G>A)	.	.	4.52932449848953E-5	0.002
18	21881290	T	A	18	24301326	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.29-2A>T)	.	.	5.30698686560739E-5	0.056
18	21881290	T	C	18	24301326	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.29-2A>G)	.	.	5.30698686560739E-5	0.056
18	21881290	T	G	18	24301326	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000584119:exon4:c.29-2A>C)	.	.	5.30698686560739E-5	0.056
18	21881291	G	A	18	24301327	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41256482875619E-5	0.002
18	21881291	G	C	18	24301327	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.2358802390823E-5	0.002
18	21881291	G	T	18	24301327	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.2358802390823E-5	0.002
18	21881292	A	C	18	24301328	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.34824760435714E-4	0.07
18	21881292	A	G	18	24301328	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.34824760435714E-4	0.07
18	21881292	A	T	18	24301328	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.34824760435714E-4	0.074
18	21881293	A	C	18	24301329	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.34824760435714E-4	0.12
18	21881293	A	G	18	24301329	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.34824760435714E-4	0.12
18	21881293	A	T	18	24301329	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.34824760435714E-4	0.124
18	21881294	A	C	18	24301330	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.04243866858565E-5	0.0
18	21881294	A	G	18	24301330	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.04243866858565E-5	0.0
18	21881294	A	T	18	24301330	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.04243866858565E-5	0.0
18	21881295	C	A	18	24301331	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.64259127652368E-5	0.0
18	21881295	C	G	18	24301331	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.37582853480714E-5	0.0
18	21881295	C	T	18	24301331	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.64259127652368E-5	0.004
18	21881296	A	C	18	24301332	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.33434928262369E-5	0.02
18	21881296	A	G	18	24301332	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.33434928262369E-5	0.02
18	21881296	A	T	18	24301332	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.33301274647661E-4	0.02
18	21881297	A	C	18	24301333	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00102211620560074	0.014
18	21881297	A	G	18	24301333	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00102211620560074	0.014
18	21881297	A	T	18	24301333	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00152067379830319	0.014
18	21881298	G	A	18	24301334	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.38863475275964E-5	0.0
18	21881298	G	C	18	24301334	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.19415310822882E-5	0.008
18	21881298	G	T	18	24301334	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.38863475275964E-5	0.012
18	21881299	A	C	18	24301335	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.8091518663914E-5	0.004
18	21881299	A	G	18	24301335	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.8091518663914E-5	0.002
18	21881299	A	T	18	24301335	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.01592652402579E-5	0.0
18	21881300	G	A	18	24301336	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.52932449848953E-5	0.002
18	21881300	G	C	18	24301336	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.52932449848953E-5	0.002
18	21881300	G	T	18	24301336	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.52932449848953E-5	0.002
18	21883593	C	A	18	24303629	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.37704253591081E-5	0.004
18	21883593	C	G	18	24303629	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.20427805990943E-5	0.0
18	21883593	C	T	18	24303629	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.20427805990943E-5	0.0
18	21883594	T	A	18	24303630	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.13863729269705E-4	0.012
18	21883594	T	C	18	24303630	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.8596658915974E-4	0.036
18	21883594	T	G	18	24303630	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.71896286643317E-4	0.034
18	21883595	T	A	18	24303631	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.55908716824608E-5	0.0
18	21883595	T	C	18	24303631	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.40173270250616E-6	0.0
18	21883595	T	G	18	24303631	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.03290295491789E-5	0.01
18	21883596	T	A	18	24303632	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.66882558586466E-4	0.004
18	21883596	T	C	18	24303632	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.60048507148308E-4	0.102
18	21883596	T	G	18	24303632	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.31665893103581E-4	0.018
18	21883597	T	A	18	24303633	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.969396668949846	0.69
18	21883597	T	C	18	24303633	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.856638121598022	0.664
18	21883597	T	G	18	24303633	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.877889671211395	0.63
18	21883598	T	A	18	24303634	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999810907323929	0.936
18	21883598	T	C	18	24303634	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.987124015202362	0.834
18	21883598	T	G	18	24303634	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999935773369418	0.952
18	21883599	A	C	18	24303635	y	y	splicing	OSBPL1A(NM_001242508:exon3:c.28+2T>G;NM_080597:exon15:c.1174+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1174+2T>G;ENST00000357041:exon3:c.28+2T>G;ENST00000584119:exon3:c.28+2T>G;ENST00000578091:exon14:c.1019+2T>G;ENST00000579851:exon13:c.1013+2T>G)	.	.	0.999988247793601	0.926
18	21883599	A	G	18	24303635	y	y	splicing	OSBPL1A(NM_001242508:exon3:c.28+2T>C;NM_080597:exon15:c.1174+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1174+2T>C;ENST00000357041:exon3:c.28+2T>C;ENST00000584119:exon3:c.28+2T>C;ENST00000578091:exon14:c.1019+2T>C;ENST00000579851:exon13:c.1013+2T>C)	.	.	0.993998724689378	0.64
18	21883599	A	T	18	24303635	y	y	splicing	OSBPL1A(NM_001242508:exon3:c.28+2T>A;NM_080597:exon15:c.1174+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1174+2T>A;ENST00000357041:exon3:c.28+2T>A;ENST00000584119:exon3:c.28+2T>A;ENST00000578091:exon14:c.1019+2T>A;ENST00000579851:exon13:c.1013+2T>A)	.	.	0.999988247793601	0.926
18	21883600	C	A	18	24303636	y	y	splicing	OSBPL1A(NM_001242508:exon3:c.28+1G>T;NM_080597:exon15:c.1174+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1174+1G>T;ENST00000357041:exon3:c.28+1G>T;ENST00000584119:exon3:c.28+1G>T;ENST00000578091:exon14:c.1019+1G>T;ENST00000579851:exon13:c.1013+1G>T)	.	.	0.999986675681007	0.93
18	21883600	C	G	18	24303636	y	y	splicing	OSBPL1A(NM_001242508:exon3:c.28+1G>C;NM_080597:exon15:c.1174+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1174+1G>C;ENST00000357041:exon3:c.28+1G>C;ENST00000584119:exon3:c.28+1G>C;ENST00000578091:exon14:c.1019+1G>C;ENST00000579851:exon13:c.1013+1G>C)	.	.	0.999986675681007	0.93
18	21883600	C	T	18	24303636	y	y	splicing	OSBPL1A(NM_001242508:exon3:c.28+1G>A;NM_080597:exon15:c.1174+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1174+1G>A;ENST00000357041:exon3:c.28+1G>A;ENST00000584119:exon3:c.28+1G>A;ENST00000578091:exon14:c.1019+1G>A;ENST00000579851:exon13:c.1013+1G>A)	.	.	0.999986675681007	0.93
18	21883601	C	A	18	24303637	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon14:c.G1174T:p.E392X;OSBPL1A:NM_001242508:exon2:c.G28T:p.E10X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon14:c.G1174T:p.E392X;ENSG00000141447:ENST00000357041:exon2:c.G28T:p.E10X;	0.999990846406755	0.976
18	21883601	C	G	18	24303637	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.G1174C:p.E392Q;OSBPL1A:NM_001242508:exon2:c.G28C:p.E10Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.G1174C:p.E392Q;ENSG00000141447:ENST00000357041:exon2:c.G28C:p.E10Q;ENSG00000141447:ENST00000584119:exon2:c.G28C:p.D10H;	0.999994892657935	0.984
18	21883601	C	T	18	24303637	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.G1174A:p.E392K;OSBPL1A:NM_001242508:exon2:c.G28A:p.E10K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.G1174A:p.E392K;ENSG00000141447:ENST00000357041:exon2:c.G28A:p.E10K;ENSG00000141447:ENST00000584119:exon2:c.G28A:p.D10N;	0.999981814411367	1.0
18	21883602	T	A	18	24303638	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1173T:p.K391N;OSBPL1A:NM_001242508:exon2:c.A27T:p.K9N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1173T:p.K391N;ENSG00000141447:ENST00000357041:exon2:c.A27T:p.K9N;ENSG00000141447:ENST00000584119:exon2:c.A27T:p.K9N;	0.997731282161331	0.97
18	21883602	T	C	18	24303638	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon14:c.A1173G:p.K391K;OSBPL1A:NM_001242508:exon2:c.A27G:p.K9K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1173G:p.K391K;ENSG00000141447:ENST00000357041:exon2:c.A27G:p.K9K;ENSG00000141447:ENST00000584119:exon2:c.A27G:p.K9K;	0.999042201901023	0.978
18	21883602	T	G	18	24303638	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1173C:p.K391N;OSBPL1A:NM_001242508:exon2:c.A27C:p.K9N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1173C:p.K391N;ENSG00000141447:ENST00000357041:exon2:c.A27C:p.K9N;ENSG00000141447:ENST00000584119:exon2:c.A27C:p.K9N;	0.983800598341309	0.818
18	21883603	T	A	18	24303639	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1172T:p.K391I;OSBPL1A:NM_001242508:exon2:c.A26T:p.K9I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1172T:p.K391I;ENSG00000141447:ENST00000357041:exon2:c.A26T:p.K9I;ENSG00000141447:ENST00000584119:exon2:c.A26T:p.K9I;	0.123174289417205	0.378
18	21883603	T	C	18	24303639	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1172G:p.K391R;OSBPL1A:NM_001242508:exon2:c.A26G:p.K9R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1172G:p.K391R;ENSG00000141447:ENST00000357041:exon2:c.A26G:p.K9R;ENSG00000141447:ENST00000584119:exon2:c.A26G:p.K9R;	2.24047368037759E-4	0.02
18	21883603	T	G	18	24303639	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1172C:p.K391T;OSBPL1A:NM_001242508:exon2:c.A26C:p.K9T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1172C:p.K391T;ENSG00000141447:ENST00000357041:exon2:c.A26C:p.K9T;ENSG00000141447:ENST00000584119:exon2:c.A26C:p.K9T;	7.7897666237553E-5	0.0
18	21883681	T	A	18	24303717	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1094T:p.K365I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1094T:p.K365I;	3.88742757073756E-4	0.0
18	21883681	T	C	18	24303717	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1094G:p.K365R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1094G:p.K365R;	5.70153923505442E-4	0.052
18	21883681	T	G	18	24303717	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1094C:p.K365T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1094C:p.K365T;	3.1217009152167E-4	0.014
18	21883682	T	A	18	24303718	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon14:c.A1093T:p.K365X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon14:c.A1093T:p.K365X;	0.392014279193383	0.642
18	21883682	T	C	18	24303718	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1093G:p.K365E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1093G:p.K365E;	0.00127498632136157	0.02
18	21883682	T	G	18	24303718	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon14:c.A1093C:p.K365Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon14:c.A1093C:p.K365Q;	0.00536345486231036	0.098
18	21883683	C	A	18	24303719	y	y	splicing	OSBPL1A(NM_080597:exon15:c.1093-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1093-1G>T;ENST00000578091:exon14:c.938-1G>T;ENST00000579851:exon13:c.932-1G>T)	.	.	0.999986675681007	0.93
18	21883683	C	G	18	24303719	y	y	splicing	OSBPL1A(NM_080597:exon15:c.1093-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1093-1G>C;ENST00000578091:exon14:c.938-1G>C;ENST00000579851:exon13:c.932-1G>C)	.	.	0.999986675681007	0.93
18	21883683	C	T	18	24303719	y	y	splicing	OSBPL1A(NM_080597:exon15:c.1093-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1093-1G>A;ENST00000578091:exon14:c.938-1G>A;ENST00000579851:exon13:c.932-1G>A)	.	.	0.999986675681007	0.932
18	21883684	T	A	18	24303720	y	y	splicing	OSBPL1A(NM_080597:exon15:c.1093-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1093-2A>T;ENST00000578091:exon14:c.938-2A>T;ENST00000579851:exon13:c.932-2A>T)	.	.	0.999988247793601	0.926
18	21883684	T	C	18	24303720	y	y	splicing	OSBPL1A(NM_080597:exon15:c.1093-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1093-2A>G;ENST00000578091:exon14:c.938-2A>G;ENST00000579851:exon13:c.932-2A>G)	.	.	0.999988247793601	0.926
18	21883684	T	G	18	24303720	y	y	splicing	OSBPL1A(NM_080597:exon15:c.1093-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon15:c.1093-2A>C;ENST00000578091:exon14:c.938-2A>C;ENST00000579851:exon13:c.932-2A>C)	.	.	0.999988247793601	0.926
18	21883685	G	A	18	24303721	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.659844855569031	0.352
18	21883685	G	C	18	24303721	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999967607750007	0.962
18	21883685	G	T	18	24303721	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998742539187001	0.868
18	21883686	C	A	18	24303722	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.13577714389211E-5	0.0
18	21883686	C	G	18	24303722	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.34334540815181E-5	0.004
18	21883686	C	T	18	24303722	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.95933613990323E-5	0.0
18	21883687	A	C	18	24303723	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0045565998398736	0.214
18	21883687	A	G	18	24303723	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.85841410833231E-4	0.01
18	21883687	A	T	18	24303723	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.978759558014093	0.758
18	21883688	A	C	18	24303724	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00114182333684727	0.204
18	21883688	A	G	18	24303724	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41232953999956E-4	0.018
18	21883688	A	T	18	24303724	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00160727123798905	0.222
18	21883689	A	C	18	24303725	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.76065858830457E-5	0.022
18	21883689	A	G	18	24303725	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.29422086963111E-5	0.0
18	21883689	A	T	18	24303725	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.63794760737412E-5	0.024
18	21883690	A	C	18	24303726	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.32328506524545E-4	0.05
18	21883690	A	G	18	24303726	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.41923277796746E-5	0.01
18	21883690	A	T	18	24303726	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.35862946884904E-4	0.062
18	21883691	A	C	18	24303727	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00171169836917887	0.15
18	21883691	A	G	18	24303727	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.84033295168471E-4	0.03
18	21883691	A	T	18	24303727	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00219435287805397	0.172
18	21883692	A	C	18	24303728	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0018105852275865	0.054
18	21883692	A	G	18	24303728	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.32192771868496E-4	0.026
18	21883692	A	T	18	24303728	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00235791770737991	0.07
18	21883693	A	C	18	24303729	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.80857804911329E-4	0.11
18	21883693	A	G	18	24303729	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.90830501483135E-4	0.098
18	21883693	A	T	18	24303729	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.40224438795274E-4	0.12
18	21883694	G	A	18	24303730	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.4342084658343E-5	0.008
18	21883694	G	C	18	24303730	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.44030734110737E-4	0.032
18	21883694	G	T	18	24303730	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.44738330158251E-4	0.064
18	21891410	T	A	18	24311446	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.54041399854896E-5	0.0
18	21891410	T	C	18	24311446	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.23430963765097E-5	0.0
18	21891410	T	G	18	24311446	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.23430963765097E-5	0.0
18	21891411	C	A	18	24311447	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.75258639471037E-5	0.02
18	21891411	C	G	18	24311447	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.75258639471037E-5	0.02
18	21891411	C	T	18	24311447	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.75258639471037E-5	0.02
18	21891412	A	C	18	24311448	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.15849948155271E-5	0.046
18	21891412	A	G	18	24311448	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.15849948155271E-5	0.046
18	21891412	A	T	18	24311448	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.15849948155271E-5	0.046
18	21891413	A	C	18	24311449	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.13105871323179E-5	0.008
18	21891413	A	G	18	24311449	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.13105871323179E-5	0.008
18	21891413	A	T	18	24311449	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.13105871323179E-5	0.008
18	21891414	T	A	18	24311450	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.34152077032087E-5	0.076
18	21891414	T	C	18	24311450	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.34152077032087E-5	0.076
18	21891414	T	G	18	24311450	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.34152077032087E-5	0.076
18	21891415	T	A	18	24311451	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.62850261126439E-6	0.002
18	21891415	T	C	18	24311451	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.62850261126439E-6	0.0
18	21891415	T	G	18	24311451	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.62850261126439E-6	0.002
18	21891416	A	C	18	24311452	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	5.19603968851058E-5	0.128
18	21891416	A	G	18	24311452	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	5.19603968851058E-5	0.128
18	21891416	A	T	18	24311452	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	5.19603968851058E-5	0.128
18	21891417	C	A	18	24311453	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.20695034961553E-5	0.004
18	21891417	C	G	18	24311453	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.20695034961553E-5	0.004
18	21891417	C	T	18	24311453	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.20695034961553E-5	0.004
18	21891418	C	A	18	24311454	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	2.4631346304159E-5	0.0
18	21891418	C	G	18	24311454	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	2.4631346304159E-5	0.0
18	21891418	C	T	18	24311454	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	2.4631346304159E-5	0.0
18	21891419	T	A	18	24311455	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.08593451297961E-5	0.008
18	21891419	T	C	18	24311455	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.98540489788233E-5	0.008
18	21891419	T	G	18	24311455	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.98540489788233E-5	0.008
18	21891420	A	C	18	24311456	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.25492104196006E-5	0.0
18	21891420	A	G	18	24311456	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.25492104196006E-5	0.0
18	21891420	A	T	18	24311456	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.25492104196006E-5	0.0
18	21891940	C	A	18	24311976	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.13324429737708E-4	0.006
18	21891940	C	G	18	24311976	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.71088654042677E-5	0.024
18	21891940	C	T	18	24311976	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.65573291024173E-4	0.008
18	21891941	T	A	18	24311977	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.234663403103321	0.312
18	21891941	T	C	18	24311977	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.125418226068394	0.36
18	21891941	T	G	18	24311977	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.163730751484778	0.39
18	21891942	A	C	18	24311978	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00111445203939413	0.108
18	21891942	A	G	18	24311978	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0160330560034728	0.138
18	21891942	A	T	18	24311978	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00760797029811758	0.15
18	21891943	T	A	18	24311979	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.30405474900656E-5	0.028
18	21891943	T	C	18	24311979	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.25645338719984E-4	0.068
18	21891943	T	G	18	24311979	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.11282349996382E-4	0.034
18	21891944	T	A	18	24311980	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.66155509234199	0.426
18	21891944	T	C	18	24311980	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.756241744668334	0.484
18	21891944	T	G	18	24311980	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.612286736457756	0.33
18	21891945	T	A	18	24311981	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.993384493099813	0.792
18	21891945	T	C	18	24311981	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.840182438039973	0.626
18	21891945	T	G	18	24311981	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998695449398074	0.834
18	21891946	A	C	18	24311982	y	y	splicing	OSBPL1A(NM_080597:exon14:c.1092+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.1092+2T>G;ENST00000578091:exon13:c.937+2T>G;ENST00000579851:exon12:c.931+2T>G)	.	.	0.999988247793601	0.928
18	21891946	A	G	18	24311982	y	y	splicing	OSBPL1A(NM_080597:exon14:c.1092+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.1092+2T>C;ENST00000578091:exon13:c.937+2T>C;ENST00000579851:exon12:c.931+2T>C)	.	.	0.992783534660112	0.614
18	21891946	A	T	18	24311982	y	y	splicing	OSBPL1A(NM_080597:exon14:c.1092+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.1092+2T>A;ENST00000578091:exon13:c.937+2T>A;ENST00000579851:exon12:c.931+2T>A)	.	.	0.999988247793601	0.928
18	21891947	C	A	18	24311983	y	y	splicing	OSBPL1A(NM_080597:exon14:c.1092+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.1092+1G>T;ENST00000578091:exon13:c.937+1G>T;ENST00000579851:exon12:c.931+1G>T)	.	.	0.999985532734767	0.938
18	21891947	C	G	18	24311983	y	y	splicing	OSBPL1A(NM_080597:exon14:c.1092+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.1092+1G>C;ENST00000578091:exon13:c.937+1G>C;ENST00000579851:exon12:c.931+1G>C)	.	.	0.999985532734767	0.938
18	21891947	C	T	18	24311983	y	y	splicing	OSBPL1A(NM_080597:exon14:c.1092+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.1092+1G>A;ENST00000578091:exon13:c.937+1G>A;ENST00000579851:exon12:c.931+1G>A)	.	.	0.999985532734767	0.938
18	21891948	C	A	18	24311984	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.G1092T:p.E364D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.G1092T:p.E364D;	0.999245629262829	0.936
18	21891948	C	G	18	24311984	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.G1092C:p.E364D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.G1092C:p.E364D;	0.999974464319814	0.97
18	21891948	C	T	18	24311984	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon13:c.G1092A:p.E364E;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.G1092A:p.E364E;	0.999489556465358	0.994
18	21891949	T	A	18	24311985	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.A1091T:p.E364V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.A1091T:p.E364V;	0.983836107170735	0.774
18	21891949	T	C	18	24311985	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.A1091G:p.E364G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.A1091G:p.E364G;	0.931711811990109	0.67
18	21891949	T	G	18	24311985	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.A1091C:p.E364A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.A1091C:p.E364A;	0.385856441455094	0.52
18	21891950	C	A	18	24311986	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon13:c.G1090T:p.E364X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon13:c.G1090T:p.E364X;	0.154272231407144	0.458
18	21891950	C	G	18	24311986	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.G1090C:p.E364Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.G1090C:p.E364Q;	7.42113219669684E-5	0.002
18	21891950	C	T	18	24311986	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.G1090A:p.E364K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.G1090A:p.E364K;	2.20711135729002E-4	0.016
18	21892069	T	A	18	24312105	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.A971T:p.D324V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.A971T:p.D324V;	2.52789201501648E-4	0.034
18	21892069	T	C	18	24312105	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.A971G:p.D324G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.A971G:p.D324G;	3.88499313991273E-4	0.014
18	21892069	T	G	18	24312105	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.A971C:p.D324A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.A971C:p.D324A;	6.33731617373408E-5	0.038
18	21892070	C	A	18	24312106	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.G970T:p.D324Y;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.G970T:p.D324Y;	0.201669055196572	0.162
18	21892070	C	G	18	24312106	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.G970C:p.D324H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.G970C:p.D324H;	0.0202783253189863	0.204
18	21892070	C	T	18	24312106	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon13:c.G970A:p.D324N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon13:c.G970A:p.D324N;	0.00188904567595782	0.042
18	21892071	C	A	18	24312107	y	y	splicing	OSBPL1A(NM_080597:exon14:c.970-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.970-1G>T;ENST00000578091:exon13:c.815-1G>T;ENST00000579851:exon12:c.809-1G>T)	.	.	0.999924569530819	0.952
18	21892071	C	G	18	24312107	y	y	splicing	OSBPL1A(NM_080597:exon14:c.970-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.970-1G>C;ENST00000578091:exon13:c.815-1G>C;ENST00000579851:exon12:c.809-1G>C)	.	.	0.999925264980459	0.956
18	21892071	C	T	18	24312107	y	y	splicing	OSBPL1A(NM_080597:exon14:c.970-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.970-1G>A;ENST00000578091:exon13:c.815-1G>A;ENST00000579851:exon12:c.809-1G>A)	.	.	0.999924569530819	0.952
18	21892072	T	A	18	24312108	y	y	splicing	OSBPL1A(NM_080597:exon14:c.970-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.970-2A>T;ENST00000578091:exon13:c.815-2A>T;ENST00000579851:exon12:c.809-2A>T)	.	.	0.99993928974862	0.96
18	21892072	T	C	18	24312108	y	y	splicing	OSBPL1A(NM_080597:exon14:c.970-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.970-2A>G;ENST00000578091:exon13:c.815-2A>G;ENST00000579851:exon12:c.809-2A>G)	.	.	0.99993928974862	0.956
18	21892072	T	G	18	24312108	y	y	splicing	OSBPL1A(NM_080597:exon14:c.970-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon14:c.970-2A>C;ENST00000578091:exon13:c.815-2A>C;ENST00000579851:exon12:c.809-2A>C)	.	.	0.99993928974862	0.958
18	21892073	G	A	18	24312109	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.60695251689242E-4	0.088
18	21892073	G	C	18	24312109	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999842905369904	0.724
18	21892073	G	T	18	24312109	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.967879129653579	0.756
18	21892074	A	C	18	24312110	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.08519617500095E-4	0.022
18	21892074	A	G	18	24312110	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.42779436926211E-4	0.048
18	21892074	A	T	18	24312110	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0025496409924674	0.02
18	21892075	A	C	18	24312111	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.955951576463237	0.594
18	21892075	A	G	18	24312111	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0115201778340066	0.218
18	21892075	A	T	18	24312111	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.975017053614873	0.534
18	21892076	A	C	18	24312112	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999707768716922	0.968
18	21892076	A	G	18	24312112	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.73796592731247E-5	0.046
18	21892076	A	T	18	24312112	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0944430920527128	0.304
18	21892077	T	A	18	24312113	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.26452342523097E-5	0.008
18	21892077	T	C	18	24312113	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.65101139701309E-5	0.028
18	21892077	T	G	18	24312113	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.80146314703169E-5	0.0
18	21892078	C	A	18	24312114	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.28275900898474E-5	0.002
18	21892078	C	G	18	24312114	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.28275900898474E-5	0.002
18	21892078	C	T	18	24312114	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.68256546039955E-4	0.044
18	21892079	A	C	18	24312115	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999908737503949	0.988
18	21892079	A	G	18	24312115	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.7707521172846E-4	0.056
18	21892079	A	T	18	24312115	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999906386603447	0.988
18	21892080	T	A	18	24312116	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.21170701447216E-4	0.026
18	21892080	T	C	18	24312116	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.43235024857693E-5	0.002
18	21892080	T	G	18	24312116	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.80713675533745E-5	0.014
18	21892081	G	A	18	24312117	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.88863356375749E-5	0.004
18	21892081	G	C	18	24312117	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.56367826928479E-4	0.074
18	21892081	G	T	18	24312117	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.34167261837772E-4	0.086
18	21892082	C	A	18	24312118	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.98613824403143E-5	0.036
18	21892082	C	G	18	24312118	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.98613824403143E-5	0.006
18	21892082	C	T	18	24312118	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.19154463784722E-4	0.04
18	21894205	A	C	18	24314241	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.65737640395155E-4	0.002
18	21894205	A	G	18	24314241	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.51708409788435E-4	0.074
18	21894205	A	T	18	24314241	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.14349508740734E-4	0.004
18	21894206	A	C	18	24314242	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.60802537842155E-4	0.052
18	21894206	A	G	18	24314242	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.58913110107063E-4	0.024
18	21894206	A	T	18	24314242	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.77073549126991E-4	0.002
18	21894207	G	A	18	24314243	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.90602233454084E-5	0.01
18	21894207	G	C	18	24314243	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.79337603001507E-4	0.022
18	21894207	G	T	18	24314243	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.36519175706313E-4	0.018
18	21894208	A	C	18	24314244	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00124717091823118	0.09
18	21894208	A	G	18	24314244	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.95144431721468E-4	0.06
18	21894208	A	T	18	24314244	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.87080051279208E-4	0.024
18	21894209	T	A	18	24314245	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.994136979095512	0.784
18	21894209	T	C	18	24314245	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.997324603117023	0.898
18	21894209	T	G	18	24314245	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.977780932125551	0.59
18	21894210	T	A	18	24314246	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999933171881639	0.96
18	21894210	T	C	18	24314246	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.949747550542233	0.854
18	21894210	T	G	18	24314246	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999893806197383	0.92
18	21894211	A	C	18	24314247	y	y	splicing	OSBPL1A(NM_080597:exon13:c.969+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.969+2T>G;ENST00000578091:exon12:c.814+2T>G;ENST00000579851:exon11:c.808+2T>G)	.	.	0.999992446697775	0.946
18	21894211	A	G	18	24314247	y	y	splicing	OSBPL1A(NM_080597:exon13:c.969+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.969+2T>C;ENST00000578091:exon12:c.814+2T>C;ENST00000579851:exon11:c.808+2T>C)	.	.	0.989838600809155	0.606
18	21894211	A	T	18	24314247	y	y	splicing	OSBPL1A(NM_080597:exon13:c.969+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.969+2T>A;ENST00000578091:exon12:c.814+2T>A;ENST00000579851:exon11:c.808+2T>A)	.	.	0.999992446697775	0.946
18	21894212	C	A	18	24314248	y	y	splicing	OSBPL1A(NM_080597:exon13:c.969+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.969+1G>T;ENST00000578091:exon12:c.814+1G>T;ENST00000579851:exon11:c.808+1G>T)	.	.	0.999988247793601	0.93
18	21894212	C	G	18	24314248	y	y	splicing	OSBPL1A(NM_080597:exon13:c.969+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.969+1G>C;ENST00000578091:exon12:c.814+1G>C;ENST00000579851:exon11:c.808+1G>C)	.	.	0.999988247793601	0.93
18	21894212	C	T	18	24314248	y	y	splicing	OSBPL1A(NM_080597:exon13:c.969+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.969+1G>A;ENST00000578091:exon12:c.814+1G>A;ENST00000579851:exon11:c.808+1G>A)	.	.	0.999988247793601	0.93
18	21894213	C	A	18	24314249	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.G969T:p.E323D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.G969T:p.E323D;	0.999988555718161	0.996
18	21894213	C	G	18	24314249	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.G969C:p.E323D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.G969C:p.E323D;	0.999997362140411	0.996
18	21894213	C	T	18	24314249	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon12:c.G969A:p.E323E;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.G969A:p.E323E;	0.999987217480033	0.998
18	21894214	T	A	18	24314250	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.A968T:p.E323V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.A968T:p.E323V;	0.999918375741732	0.99
18	21894214	T	C	18	24314250	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.A968G:p.E323G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.A968G:p.E323G;	0.999890218325141	0.998
18	21894214	T	G	18	24314250	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.A968C:p.E323A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.A968C:p.E323A;	0.999883556215615	0.994
18	21894215	C	A	18	24314251	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon12:c.G967T:p.E323X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon12:c.G967T:p.E323X;	0.0122421406923669	0.42
18	21894215	C	G	18	24314251	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.G967C:p.E323Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.G967C:p.E323Q;	8.43238724700417E-5	0.0
18	21894215	C	T	18	24314251	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.G967A:p.E323K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.G967A:p.E323K;	1.49741653556301E-4	0.0
18	21894310	A	C	18	24314346	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.T872G:p.V291G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.T872G:p.V291G;	0.575756346622683	0.31
18	21894310	A	G	18	24314346	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.T872C:p.V291A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.T872C:p.V291A;	0.0293279899730102	0.152
18	21894310	A	T	18	24314346	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.T872A:p.V291E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.T872A:p.V291E;	0.788175178951645	0.434
18	21894311	C	A	18	24314347	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.G871T:p.V291L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.G871T:p.V291L;	0.971309394901588	0.628
18	21894311	C	G	18	24314347	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.G871C:p.V291L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.G871C:p.V291L;	0.952479280195468	0.658
18	21894311	C	T	18	24314347	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon12:c.G871A:p.V291I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon12:c.G871A:p.V291I;	0.238231725320183	0.372
18	21894312	C	A	18	24314348	y	y	splicing	OSBPL1A(NM_080597:exon13:c.871-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.871-1G>T;ENST00000578091:exon12:c.716-1G>T;ENST00000579851:exon11:c.710-1G>T)	.	.	0.999930035788667	0.834
18	21894312	C	G	18	24314348	y	y	splicing	OSBPL1A(NM_080597:exon13:c.871-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.871-1G>C;ENST00000578091:exon12:c.716-1G>C;ENST00000579851:exon11:c.710-1G>C)	.	.	0.999915705715934	0.832
18	21894312	C	T	18	24314348	y	y	splicing	OSBPL1A(NM_080597:exon13:c.871-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.871-1G>A;ENST00000578091:exon12:c.716-1G>A;ENST00000579851:exon11:c.710-1G>A)	.	.	0.999930035788667	0.83
18	21894313	T	A	18	24314349	y	y	splicing	OSBPL1A(NM_080597:exon13:c.871-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.871-2A>T;ENST00000578091:exon12:c.716-2A>T;ENST00000579851:exon11:c.710-2A>T)	.	.	0.998359908294102	0.688
18	21894313	T	C	18	24314349	y	y	splicing	OSBPL1A(NM_080597:exon13:c.871-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.871-2A>G;ENST00000578091:exon12:c.716-2A>G;ENST00000579851:exon11:c.710-2A>G)	.	.	0.998359908294102	0.648
18	21894313	T	G	18	24314349	y	y	splicing	OSBPL1A(NM_080597:exon13:c.871-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon13:c.871-2A>C;ENST00000578091:exon12:c.716-2A>C;ENST00000579851:exon11:c.710-2A>C)	.	.	0.998359908294102	0.65
18	21894314	T	A	18	24314350	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.18058678847995E-4	0.048
18	21894314	T	C	18	24314350	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0889548133396229	0.378
18	21894314	T	G	18	24314350	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.30384416454204E-4	0.11
18	21894315	G	A	18	24314351	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.83773504816981E-5	0.004
18	21894315	G	C	18	24314351	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.61287185166315E-5	0.004
18	21894315	G	T	18	24314351	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.86200802400559E-5	0.008
18	21894316	G	A	18	24314352	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.80979598650494E-5	0.0
18	21894316	G	C	18	24314352	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.00730169309423E-4	0.078
18	21894316	G	T	18	24314352	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.98243193253656E-4	0.048
18	21894317	A	C	18	24314353	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999927425828568	0.982
18	21894317	A	G	18	24314353	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00140051706451995	0.068
18	21894317	A	T	18	24314353	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.758565501980796	0.516
18	21894318	T	A	18	24314354	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.14645273293215E-5	0.012
18	21894318	T	C	18	24314354	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.05404169262831E-4	0.006
18	21894318	T	G	18	24314354	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.57385320830443E-5	0.014
18	21894319	A	C	18	24314355	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999926965418958	0.98
18	21894319	A	G	18	24314355	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.031121426109292	0.134
18	21894319	A	T	18	24314355	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.763799785346439	0.544
18	21894320	T	A	18	24314356	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.24576054329047E-5	0.05
18	21894320	T	C	18	24314356	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.71991807200737E-4	0.014
18	21894320	T	G	18	24314356	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.58720936811206E-4	0.03
18	21894321	A	C	18	24314357	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99597374320517	0.866
18	21894321	A	G	18	24314357	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00451730253043657	0.196
18	21894321	A	T	18	24314357	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.995975389886483	0.83
18	21894322	A	C	18	24314358	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.989815113182149	0.744
18	21894322	A	G	18	24314358	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.1448458831219	0.278
18	21894322	A	T	18	24314358	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.990871208597769	0.748
18	21894323	A	C	18	24314359	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998540405070736	0.922
18	21894323	A	G	18	24314359	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0396437846754682	0.244
18	21894323	A	T	18	24314359	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.9988539519576	0.94
18	21897105	C	A	18	24317141	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00124809714005597	0.028
18	21897105	C	G	18	24317141	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.97462477381666E-4	0.024
18	21897105	C	T	18	24317141	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.58827006655429E-4	0.018
18	21897106	A	C	18	24317142	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.50844036959844E-4	0.0
18	21897106	A	G	18	24317142	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.8118720963973E-4	0.0
18	21897106	A	T	18	24317142	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.56947823671626E-4	0.0
18	21897107	T	A	18	24317143	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.92286654734404E-6	0.024
18	21897107	T	C	18	24317143	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.62488336439686E-5	0.002
18	21897107	T	G	18	24317143	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.39877599102468E-5	0.036
18	21897108	C	A	18	24317144	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999966459343805	0.978
18	21897108	C	G	18	24317144	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999915592559849	0.868
18	21897108	C	T	18	24317144	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999612390759791	0.982
18	21897109	C	A	18	24317145	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.52811483190963E-5	0.004
18	21897109	C	G	18	24317145	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.2053896706339E-5	0.028
18	21897109	C	T	18	24317145	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.96072103728354E-5	0.008
18	21897110	T	A	18	24317146	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999286952124592	0.958
18	21897110	T	C	18	24317146	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.995162468389177	0.94
18	21897110	T	G	18	24317146	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999448556870159	0.944
18	21897111	A	C	18	24317147	y	y	splicing	OSBPL1A(NM_080597:exon12:c.870+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.870+2T>G;ENST00000578091:exon11:c.715+2T>G;ENST00000579851:exon10:c.709+2T>G)	.	.	0.999990764389106	0.932
18	21897111	A	G	18	24317147	y	y	splicing	OSBPL1A(NM_080597:exon12:c.870+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.870+2T>C;ENST00000578091:exon11:c.715+2T>C;ENST00000579851:exon10:c.709+2T>C)	.	.	0.999919607430082	0.872
18	21897111	A	T	18	24317147	y	y	splicing	OSBPL1A(NM_080597:exon12:c.870+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.870+2T>A;ENST00000578091:exon11:c.715+2T>A;ENST00000579851:exon10:c.709+2T>A)	.	.	0.999990764389106	0.932
18	21897112	C	A	18	24317148	y	y	splicing	OSBPL1A(NM_080597:exon12:c.870+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.870+1G>T;ENST00000578091:exon11:c.715+1G>T;ENST00000579851:exon10:c.709+1G>T)	.	.	0.999989528922238	0.934
18	21897112	C	G	18	24317148	y	y	splicing	OSBPL1A(NM_080597:exon12:c.870+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.870+1G>C;ENST00000578091:exon11:c.715+1G>C;ENST00000579851:exon10:c.709+1G>C)	.	.	0.999989528922238	0.934
18	21897112	C	T	18	24317148	y	y	splicing	OSBPL1A(NM_080597:exon12:c.870+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.870+1G>A;ENST00000578091:exon11:c.715+1G>A;ENST00000579851:exon10:c.709+1G>A)	.	.	0.999989528922238	0.934
18	21897113	C	A	18	24317149	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon11:c.G870T:p.T290T;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.G870T:p.T290T;	0.999966219279465	0.968
18	21897113	C	G	18	24317149	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon11:c.G870C:p.T290T;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.G870C:p.T290T;	0.999994763439569	0.998
18	21897113	C	T	18	24317149	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon11:c.G870A:p.T290T;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.G870A:p.T290T;	0.999979019970045	1.0
18	21897114	G	A	18	24317150	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.C869T:p.T290M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.C869T:p.T290M;	0.995424965869353	0.73
18	21897114	G	C	18	24317150	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.C869G:p.T290R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.C869G:p.T290R;	0.980473749600087	0.712
18	21897114	G	T	18	24317150	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.C869A:p.T290K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.C869A:p.T290K;	0.955116008133946	0.65
18	21897115	T	A	18	24317151	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.A868T:p.T290S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.A868T:p.T290S;	0.979982264694581	0.656
18	21897115	T	C	18	24317151	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.A868G:p.T290A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.A868G:p.T290A;	0.752359698155702	0.422
18	21897115	T	G	18	24317151	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.A868C:p.T290P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.A868C:p.T290P;	0.531108556152231	0.446
18	21897175	G	A	18	24317211	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.C808T:p.P270S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.C808T:p.P270S;	4.47805927488642E-4	0.012
18	21897175	G	C	18	24317211	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.C808G:p.P270A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.C808G:p.P270A;	1.53860128611088E-4	0.07
18	21897175	G	T	18	24317211	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.C808A:p.P270T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.C808A:p.P270T;	7.10959843496825E-4	0.012
18	21897176	C	A	18	24317212	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.G807T:p.Q269H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.G807T:p.Q269H;	0.995342074624476	0.922
18	21897176	C	G	18	24317212	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon11:c.G807C:p.Q269H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.G807C:p.Q269H;	0.971722103425072	0.858
18	21897176	C	T	18	24317212	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon11:c.G807A:p.Q269Q;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon11:c.G807A:p.Q269Q;	0.472125216466171	0.542
18	21897177	C	A	18	24317213	y	y	splicing	OSBPL1A(NM_080597:exon12:c.807-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.807-1G>T;ENST00000578091:exon11:c.652-1G>T;ENST00000579851:exon10:c.646-1G>T)	.	.	0.99996748057446	0.906
18	21897177	C	G	18	24317213	y	y	splicing	OSBPL1A(NM_080597:exon12:c.807-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.807-1G>C;ENST00000578091:exon11:c.652-1G>C;ENST00000579851:exon10:c.646-1G>C)	.	.	0.99996748057446	0.906
18	21897177	C	T	18	24317213	y	y	splicing	OSBPL1A(NM_080597:exon12:c.807-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.807-1G>A;ENST00000578091:exon11:c.652-1G>A;ENST00000579851:exon10:c.646-1G>A)	.	.	0.999945530492988	0.91
18	21897178	T	A	18	24317214	y	y	splicing	OSBPL1A(NM_080597:exon12:c.807-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.807-2A>T;ENST00000578091:exon11:c.652-2A>T;ENST00000579851:exon10:c.646-2A>T)	.	.	0.999971317418422	0.894
18	21897178	T	C	18	24317214	y	y	splicing	OSBPL1A(NM_080597:exon12:c.807-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.807-2A>G;ENST00000578091:exon11:c.652-2A>G;ENST00000579851:exon10:c.646-2A>G)	.	.	0.999971317418422	0.884
18	21897178	T	G	18	24317214	y	y	splicing	OSBPL1A(NM_080597:exon12:c.807-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon12:c.807-2A>C;ENST00000578091:exon11:c.652-2A>C;ENST00000579851:exon10:c.646-2A>C)	.	.	0.999971317418422	0.886
18	21897179	T	A	18	24317215	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.02927547154806E-4	0.024
18	21897179	T	C	18	24317215	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.429264966395153	0.58
18	21897179	T	G	18	24317215	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.05450702030489E-4	0.098
18	21897180	C	A	18	24317216	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.55441817349701E-5	0.004
18	21897180	C	G	18	24317216	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.67335086739931E-5	0.0
18	21897180	C	T	18	24317216	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.58184945634945E-5	0.0
18	21897181	A	C	18	24317217	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00609584893380776	0.224
18	21897181	A	G	18	24317217	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.28248575212317E-4	0.028
18	21897181	A	T	18	24317217	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.9838636908147	0.878
18	21897182	A	C	18	24317218	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00435286249175434	0.154
18	21897182	A	G	18	24317218	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.8699157678997E-4	0.01
18	21897182	A	T	18	24317218	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0194843504205862	0.196
18	21897183	A	C	18	24317219	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0177991380829452	0.17
18	21897183	A	G	18	24317219	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.0612843936778E-4	0.014
18	21897183	A	T	18	24317219	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0372237962298653	0.162
18	21897184	A	C	18	24317220	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999773770741547	0.98
18	21897184	A	G	18	24317220	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.0418297284724E-4	0.048
18	21897184	A	T	18	24317220	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00318509330108155	0.1
18	21897185	T	A	18	24317221	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.37007274099791E-5	0.0
18	21897185	T	C	18	24317221	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.72167632860166E-5	0.014
18	21897185	T	G	18	24317221	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.88520202223388E-5	0.004
18	21897186	A	C	18	24317222	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00234449278942192	0.14
18	21897186	A	G	18	24317222	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.46294747348659E-4	0.0
18	21897186	A	T	18	24317222	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00141205708042924	0.104
18	21897187	A	C	18	24317223	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0266091545525702	0.296
18	21897187	A	G	18	24317223	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00279869468280289	0.092
18	21897187	A	T	18	24317223	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0452835283718495	0.332
18	21897188	A	C	18	24317224	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0115843950344182	0.252
18	21897188	A	G	18	24317224	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.49770004620036E-4	0.044
18	21897188	A	T	18	24317224	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0216380004099066	0.252
18	21897283	A	C	18	24317319	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.43345025607948E-4	0.0
18	21897283	A	G	18	24317319	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.35503445693513E-4	0.0
18	21897283	A	T	18	24317319	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.03025803719098E-4	0.0
18	21897284	T	A	18	24317320	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.03986451279692E-5	0.0
18	21897284	T	C	18	24317320	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.63708892041079E-6	0.0
18	21897284	T	G	18	24317320	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.63708892041079E-6	0.0
18	21897285	A	C	18	24317321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.744896328226464	0.54
18	21897285	A	G	18	24317321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.717720064364054	0.516
18	21897285	A	T	18	24317321	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.579212216552988	0.438
18	21897286	C	A	18	24317322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999982194025991	0.994
18	21897286	C	G	18	24317322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999982194025991	0.974
18	21897286	C	T	18	24317322	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999981805454882	0.996
18	21897287	T	A	18	24317323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.989887819015823	0.782
18	21897287	T	C	18	24317323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.972449838159049	0.848
18	21897287	T	G	18	24317323	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.857194362383791	0.668
18	21897288	T	A	18	24317324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999354040317245	0.876
18	21897288	T	C	18	24317324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00248882307213613	0.112
18	21897288	T	G	18	24317324	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999454363320594	0.848
18	21897289	A	C	18	24317325	y	y	splicing	OSBPL1A(NM_080597:exon11:c.806+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.806+2T>G;ENST00000578091:exon10:c.651+2T>G;ENST00000579851:exon9:c.645+2T>G)	.	.	0.999988247793601	0.926
18	21897289	A	G	18	24317325	y	y	splicing	OSBPL1A(NM_080597:exon11:c.806+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.806+2T>C;ENST00000578091:exon10:c.651+2T>C;ENST00000579851:exon9:c.645+2T>C)	.	.	0.991057824102482	0.6
18	21897289	A	T	18	24317325	y	y	splicing	OSBPL1A(NM_080597:exon11:c.806+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.806+2T>A;ENST00000578091:exon10:c.651+2T>A;ENST00000579851:exon9:c.645+2T>A)	.	.	0.999988247793601	0.926
18	21897290	C	A	18	24317326	y	y	splicing	OSBPL1A(NM_080597:exon11:c.806+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.806+1G>T;ENST00000578091:exon10:c.651+1G>T;ENST00000579851:exon9:c.645+1G>T)	.	.	0.999986675681007	0.932
18	21897290	C	G	18	24317326	y	y	splicing	OSBPL1A(NM_080597:exon11:c.806+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.806+1G>C;ENST00000578091:exon10:c.651+1G>C;ENST00000579851:exon9:c.645+1G>C)	.	.	0.999986675681007	0.932
18	21897290	C	T	18	24317326	y	y	splicing	OSBPL1A(NM_080597:exon11:c.806+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.806+1G>A;ENST00000578091:exon10:c.651+1G>A;ENST00000579851:exon9:c.645+1G>A)	.	.	0.999986675681007	0.932
18	21897291	T	A	18	24317327	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.A806T:p.Q269L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A806T:p.Q269L;	0.608427351403456	0.702
18	21897291	T	C	18	24317327	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.A806G:p.Q269R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A806G:p.Q269R;	0.251604114029681	0.324
18	21897291	T	G	18	24317327	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.A806C:p.Q269P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A806C:p.Q269P;	0.749325703460454	0.806
18	21897292	G	A	18	24317328	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon10:c.C805T:p.Q269X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon10:c.C805T:p.Q269X;	0.99338456294361	0.934
18	21897292	G	C	18	24317328	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.C805G:p.Q269E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.C805G:p.Q269E;	0.988365882158552	0.93
18	21897292	G	T	18	24317328	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.C805A:p.Q269K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.C805A:p.Q269K;	0.949547967704446	0.75
18	21897293	T	A	18	24317329	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.A804T:p.K268N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A804T:p.K268N;	0.00138150826338199	0.11
18	21897293	T	C	18	24317329	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon10:c.A804G:p.K268K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A804G:p.K268K;	3.02119475214085E-4	0.004
18	21897293	T	G	18	24317329	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.A804C:p.K268N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A804C:p.K268N;	4.0270661852246E-5	0.0
18	21897363	C	A	18	24317399	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.G734T:p.S245I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.G734T:p.S245I;	0.979264449499251	0.9
18	21897363	C	G	18	24317399	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.G734C:p.S245T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.G734C:p.S245T;	0.970821576783379	0.798
18	21897363	C	T	18	24317399	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.G734A:p.S245N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.G734A:p.S245N;	0.971713480911499	0.888
18	21897364	T	A	18	24317400	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.A733T:p.S245C;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A733T:p.S245C;	0.273198393507118	0.496
18	21897364	T	C	18	24317400	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.A733G:p.S245G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A733G:p.S245G;	0.523220732019928	0.586
18	21897364	T	G	18	24317400	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon10:c.A733C:p.S245R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon10:c.A733C:p.S245R;	0.345301240725185	0.662
18	21897365	C	A	18	24317401	y	y	splicing	OSBPL1A(NM_080597:exon11:c.733-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.733-1G>T;ENST00000578091:exon10:c.578-1G>T;ENST00000579851:exon9:c.572-1G>T)	.	.	0.999986675681007	0.934
18	21897365	C	G	18	24317401	y	y	splicing	OSBPL1A(NM_080597:exon11:c.733-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.733-1G>C;ENST00000578091:exon10:c.578-1G>C;ENST00000579851:exon9:c.572-1G>C)	.	.	0.999986675681007	0.934
18	21897365	C	T	18	24317401	y	y	splicing	OSBPL1A(NM_080597:exon11:c.733-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.733-1G>A;ENST00000578091:exon10:c.578-1G>A;ENST00000579851:exon9:c.572-1G>A)	.	.	0.999986675681007	0.934
18	21897366	T	A	18	24317402	y	y	splicing	OSBPL1A(NM_080597:exon11:c.733-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.733-2A>T;ENST00000578091:exon10:c.578-2A>T;ENST00000579851:exon9:c.572-2A>T)	.	.	0.999988247793601	0.928
18	21897366	T	C	18	24317402	y	y	splicing	OSBPL1A(NM_080597:exon11:c.733-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.733-2A>G;ENST00000578091:exon10:c.578-2A>G;ENST00000579851:exon9:c.572-2A>G)	.	.	0.999988247793601	0.928
18	21897366	T	G	18	24317402	y	y	splicing	OSBPL1A(NM_080597:exon11:c.733-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon11:c.733-2A>C;ENST00000578091:exon10:c.578-2A>C;ENST00000579851:exon9:c.572-2A>C)	.	.	0.999988247793601	0.928
18	21897367	A	C	18	24317403	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998318098884778	0.708
18	21897367	A	G	18	24317403	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.001417887571531	0.018
18	21897367	A	T	18	24317403	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.464532587151613	0.452
18	21897368	A	C	18	24317404	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.60999565022406E-4	0.01
18	21897368	A	G	18	24317404	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.56535099907538E-4	0.004
18	21897368	A	T	18	24317404	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.59636133280018E-4	0.004
18	21897369	G	A	18	24317405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.9881326329792E-5	0.0
18	21897369	G	C	18	24317405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0015078234292714	0.174
18	21897369	G	T	18	24317405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00156059635911288	0.066
18	21897370	G	A	18	24317406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.20874905083545E-4	0.006
18	21897370	G	C	18	24317406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00413737799462008	0.176
18	21897370	G	T	18	24317406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00165574724637663	0.118
18	21897371	G	A	18	24317407	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.68175299821724E-5	0.0
18	21897371	G	C	18	24317407	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00405289452099397	0.04
18	21897371	G	T	18	24317407	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00884548703626517	0.092
18	21897372	A	C	18	24317408	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.001257252870869	0.114
18	21897372	A	G	18	24317408	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.75219909484526E-5	0.006
18	21897372	A	T	18	24317408	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00539930590873756	0.126
18	21897373	A	C	18	24317409	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00579076493416728	0.128
18	21897373	A	G	18	24317409	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.05645523759888E-4	0.008
18	21897373	A	T	18	24317409	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00586502527115221	0.12
18	21897374	A	C	18	24317410	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0086130281689018	0.202
18	21897374	A	G	18	24317410	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.71076564080492E-4	0.008
18	21897374	A	T	18	24317410	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00888366846554744	0.15
18	21897375	A	C	18	24317411	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.93601355375898E-4	0.138
18	21897375	A	G	18	24317411	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.73746558957653E-5	0.026
18	21897375	A	T	18	24317411	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00500267458375111	0.168
18	21897376	A	C	18	24317412	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99903683858594	0.944
18	21897376	A	G	18	24317412	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.55119766637937E-4	0.008
18	21897376	A	T	18	24317412	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00160900336830617	0.14
18	21898557	C	A	18	24318593	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.68952365742707E-5	0.0
18	21898557	C	G	18	24318593	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.68952365742707E-5	0.002
18	21898557	C	T	18	24318593	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.68952365742707E-5	0.0
18	21898558	A	C	18	24318594	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.81574716788711E-5	0.0
18	21898558	A	G	18	24318594	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.44410056029417E-5	0.0
18	21898558	A	T	18	24318594	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.44410056029417E-5	0.006
18	21898559	A	C	18	24318595	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.75042313480847E-4	0.04
18	21898559	A	G	18	24318595	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00100705583119995	0.052
18	21898559	A	T	18	24318595	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.31868844830873E-4	0.064
18	21898560	C	A	18	24318596	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.794460211793467	0.544
18	21898560	C	G	18	24318596	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.764639941053588	0.452
18	21898560	C	T	18	24318596	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.809277621310917	0.558
18	21898561	T	A	18	24318597	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0258690405079301	0.282
18	21898561	T	C	18	24318597	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0303519050379427	0.34
18	21898561	T	G	18	24318597	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.028531632602037	0.312
18	21898562	T	A	18	24318598	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.376972682987984	0.574
18	21898562	T	C	18	24318598	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.34105363954872E-4	0.028
18	21898562	T	G	18	24318598	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.514373987130398	0.616
18	21898563	A	C	18	24318599	y	y	splicing	OSBPL1A(NM_080597:exon10:c.732+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.732+2T>G;ENST00000578091:exon9:c.577+2T>G;ENST00000579851:exon8:c.571+2T>G)	.	.	0.999989917668626	0.924
18	21898563	A	G	18	24318599	y	y	splicing	OSBPL1A(NM_080597:exon10:c.732+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.732+2T>C;ENST00000578091:exon9:c.577+2T>C;ENST00000579851:exon8:c.571+2T>C)	.	.	0.985266808656705	0.594
18	21898563	A	T	18	24318599	y	y	splicing	OSBPL1A(NM_080597:exon10:c.732+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.732+2T>A;ENST00000578091:exon9:c.577+2T>A;ENST00000579851:exon8:c.571+2T>A)	.	.	0.999989917668626	0.924
18	21898564	C	A	18	24318600	y	y	splicing	OSBPL1A(NM_080597:exon10:c.732+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.732+1G>T;ENST00000578091:exon9:c.577+1G>T;ENST00000579851:exon8:c.571+1G>T)	.	.	0.999986675681007	0.924
18	21898564	C	G	18	24318600	y	y	splicing	OSBPL1A(NM_080597:exon10:c.732+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.732+1G>C;ENST00000578091:exon9:c.577+1G>C;ENST00000579851:exon8:c.571+1G>C)	.	.	0.999986675681007	0.934
18	21898564	C	T	18	24318600	y	y	splicing	OSBPL1A(NM_080597:exon10:c.732+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.732+1G>A;ENST00000578091:exon9:c.577+1G>A;ENST00000579851:exon8:c.571+1G>A)	.	.	0.999986675681007	0.932
18	21898565	C	A	18	24318601	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.G732T:p.K244N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.G732T:p.K244N;	0.999636347706251	0.96
18	21898565	C	G	18	24318601	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.G732C:p.K244N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.G732C:p.K244N;	0.999589025584931	0.94
18	21898565	C	T	18	24318601	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon9:c.G732A:p.K244K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.G732A:p.K244K;	0.985642593495133	0.752
18	21898566	T	A	18	24318602	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.A731T:p.K244M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.A731T:p.K244M;	0.986154413002793	0.636
18	21898566	T	C	18	24318602	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.A731G:p.K244R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.A731G:p.K244R;	0.990392605427783	0.788
18	21898566	T	G	18	24318602	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.A731C:p.K244T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.A731C:p.K244T;	0.990355497831039	0.718
18	21898567	T	A	18	24318603	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon9:c.A730T:p.K244X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon9:c.A730T:p.K244X;	0.949800876323349	0.636
18	21898567	T	C	18	24318603	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.A730G:p.K244E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.A730G:p.K244E;	0.19027029704548	0.446
18	21898567	T	G	18	24318603	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.A730C:p.K244Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.A730C:p.K244Q;	0.536275505667713	0.628
18	21898608	A	C	18	24318644	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.T689G:p.V230G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.T689G:p.V230G;	0.00919612908857369	0.128
18	21898608	A	G	18	24318644	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.T689C:p.V230A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.T689C:p.V230A;	0.00360507017996576	0.14
18	21898608	A	T	18	24318644	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.T689A:p.V230D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.T689A:p.V230D;	0.00205672500863923	0.078
18	21898609	C	A	18	24318645	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.G688T:p.V230F;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.G688T:p.V230F;	0.778910480585689	0.752
18	21898609	C	G	18	24318645	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.G688C:p.V230L;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.G688C:p.V230L;	0.0749646516778289	0.65
18	21898609	C	T	18	24318645	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon9:c.G688A:p.V230I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon9:c.G688A:p.V230I;	0.0337287477925646	0.274
18	21898610	C	A	18	24318646	y	y	splicing	OSBPL1A(NM_080597:exon10:c.688-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.688-1G>T;ENST00000578091:exon9:c.533-1G>T;ENST00000579851:exon8:c.527-1G>T)	.	.	0.999931168886061	0.948
18	21898610	C	G	18	24318646	y	y	splicing	OSBPL1A(NM_080597:exon10:c.688-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.688-1G>C;ENST00000578091:exon9:c.533-1G>C;ENST00000579851:exon8:c.527-1G>C)	.	.	0.999931168886061	0.952
18	21898610	C	T	18	24318646	y	y	splicing	OSBPL1A(NM_080597:exon10:c.688-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.688-1G>A;ENST00000578091:exon9:c.533-1G>A;ENST00000579851:exon8:c.527-1G>A)	.	.	0.999931168886061	0.954
18	21898611	T	A	18	24318647	y	y	splicing	OSBPL1A(NM_080597:exon10:c.688-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.688-2A>T;ENST00000578091:exon9:c.533-2A>T;ENST00000579851:exon8:c.527-2A>T)	.	.	0.999962221845381	0.948
18	21898611	T	C	18	24318647	y	y	splicing	OSBPL1A(NM_080597:exon10:c.688-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.688-2A>G;ENST00000578091:exon9:c.533-2A>G;ENST00000579851:exon8:c.527-2A>G)	.	.	0.999975355715557	0.952
18	21898611	T	G	18	24318647	y	y	splicing	OSBPL1A(NM_080597:exon10:c.688-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon10:c.688-2A>C;ENST00000578091:exon9:c.533-2A>C;ENST00000579851:exon8:c.527-2A>C)	.	.	0.999975355715557	0.952
18	21898612	G	A	18	24318648	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.47001313541328E-4	0.026
18	21898612	G	C	18	24318648	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.984729289195401	0.644
18	21898612	G	T	18	24318648	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.415239750496395	0.36
18	21898613	T	A	18	24318649	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.34057626333933E-5	0.028
18	21898613	T	C	18	24318649	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.72972324718302E-4	0.02
18	21898613	T	G	18	24318649	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.30579478575949E-4	0.012
18	21898614	C	A	18	24318650	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.67944982512943E-5	0.0
18	21898614	C	G	18	24318650	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.67944982512943E-5	0.0
18	21898614	C	T	18	24318650	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.08170729591476E-4	0.014
18	21898615	A	C	18	24318651	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00795271286462537	0.18
18	21898615	A	G	18	24318651	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.0322288786932E-6	0.0
18	21898615	A	T	18	24318651	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998675333200272	0.956
18	21898616	A	C	18	24318652	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0203506908338766	0.122
18	21898616	A	G	18	24318652	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.5359899338829E-5	0.024
18	21898616	A	T	18	24318652	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0396714385831842	0.192
18	21898617	A	C	18	24318653	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00263516234608226	0.152
18	21898617	A	G	18	24318653	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.49239555144111E-4	0.034
18	21898617	A	T	18	24318653	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0187411439017234	0.19
18	21898618	A	C	18	24318654	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00965496463953871	0.222
18	21898618	A	G	18	24318654	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.44716527537428E-4	0.056
18	21898618	A	T	18	24318654	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0100768095886586	0.244
18	21898619	A	C	18	24318655	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.738525094549657	0.602
18	21898619	A	G	18	24318655	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00759754244374965	0.114
18	21898619	A	T	18	24318655	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.939167845076349	0.694
18	21898620	C	A	18	24318656	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.29807932505469E-4	0.02
18	21898620	C	G	18	24318656	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.08344544760443E-4	0.0
18	21898620	C	T	18	24318656	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.7283371113275E-5	0.014
18	21898621	A	C	18	24318657	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999736779619197	0.964
18	21898621	A	G	18	24318657	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00357309864169661	0.108
18	21898621	A	T	18	24318657	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999625050813135	0.964
18	21898704	C	A	18	24318740	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.22383433970183E-5	0.0
18	21898704	C	G	18	24318740	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.4887794681632E-5	0.0
18	21898704	C	T	18	24318740	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.66258647744785E-4	0.014
18	21898705	T	A	18	24318741	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.54631069024715E-5	0.004
18	21898705	T	C	18	24318741	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.04924911896084E-5	0.0
18	21898705	T	G	18	24318741	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.04924911896084E-5	0.002
18	21898706	C	A	18	24318742	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.91683211707006E-5	0.016
18	21898706	C	G	18	24318742	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.67199837938327E-5	0.004
18	21898706	C	T	18	24318742	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.31509907171698E-5	0.0
18	21898707	T	A	18	24318743	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.04765843773225E-5	0.022
18	21898707	T	C	18	24318743	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.67104061345083E-5	0.004
18	21898707	T	G	18	24318743	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.44213146294473E-4	0.014
18	21898708	G	A	18	24318744	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.55651026015573E-5	0.01
18	21898708	G	C	18	24318744	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.41308095627119E-4	0.074
18	21898708	G	T	18	24318744	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.36527852114982E-5	0.02
18	21898709	T	A	18	24318745	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99988477030243	0.818
18	21898709	T	C	18	24318745	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.929996551330058	0.602
18	21898709	T	G	18	24318745	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999953670040146	0.814
18	21898710	A	C	18	24318746	y	y	splicing	OSBPL1A(NM_080597:exon9:c.687+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.687+2T>G;ENST00000578091:exon8:c.532+2T>G;ENST00000579851:exon7:c.526+2T>G)	.	.	0.999946188727699	0.942
18	21898710	A	G	18	24318746	y	y	splicing	OSBPL1A(NM_080597:exon9:c.687+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.687+2T>C;ENST00000578091:exon8:c.532+2T>C;ENST00000579851:exon7:c.526+2T>C)	.	.	0.970396377056046	0.6
18	21898710	A	T	18	24318746	y	y	splicing	OSBPL1A(NM_080597:exon9:c.687+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.687+2T>A;ENST00000578091:exon8:c.532+2T>A;ENST00000579851:exon7:c.526+2T>A)	.	.	0.999946188727699	0.934
18	21898711	C	A	18	24318747	y	y	splicing	OSBPL1A(NM_080597:exon9:c.687+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.687+1G>T;ENST00000578091:exon8:c.532+1G>T;ENST00000579851:exon7:c.526+1G>T)	.	.	0.99997771086178	0.946
18	21898711	C	G	18	24318747	y	y	splicing	OSBPL1A(NM_080597:exon9:c.687+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.687+1G>C;ENST00000578091:exon8:c.532+1G>C;ENST00000579851:exon7:c.526+1G>C)	.	.	0.99997771086178	0.928
18	21898711	C	T	18	24318747	y	y	splicing	OSBPL1A(NM_080597:exon9:c.687+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.687+1G>A;ENST00000578091:exon8:c.532+1G>A;ENST00000579851:exon7:c.526+1G>A)	.	.	0.99997771086178	0.948
18	21898712	C	A	18	24318748	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.G687T:p.K229N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.G687T:p.K229N;	0.999997963414395	0.984
18	21898712	C	G	18	24318748	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.G687C:p.K229N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.G687C:p.K229N;	0.999998805129117	1.0
18	21898712	C	T	18	24318748	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon8:c.G687A:p.K229K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.G687A:p.K229K;	0.999994001061981	0.992
18	21898713	T	A	18	24318749	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.A686T:p.K229M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.A686T:p.K229M;	0.999800640819148	0.952
18	21898713	T	C	18	24318749	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.A686G:p.K229R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.A686G:p.K229R;	0.989771469845276	0.938
18	21898713	T	G	18	24318749	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.A686C:p.K229T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.A686C:p.K229T;	0.969194188048097	0.834
18	21898714	T	A	18	24318750	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon8:c.A685T:p.K229X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon8:c.A685T:p.K229X;	0.996128907498116	0.766
18	21898714	T	C	18	24318750	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.A685G:p.K229E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.A685G:p.K229E;	0.220711715166064	0.36
18	21898714	T	G	18	24318750	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.A685C:p.K229Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.A685C:p.K229Q;	0.676001886992846	0.622
18	21898772	A	C	18	24318808	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.T627G:p.D209E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.T627G:p.D209E;	6.98831562338007E-4	0.078
18	21898772	A	G	18	24318808	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon8:c.T627C:p.D209D;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.T627C:p.D209D;	2.20025615413894E-4	0.072
18	21898772	A	T	18	24318808	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.T627A:p.D209E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.T627A:p.D209E;	0.00312219360737866	0.23
18	21898773	T	A	18	24318809	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.A626T:p.D209V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.A626T:p.D209V;	8.20105694318991E-4	0.12
18	21898773	T	C	18	24318809	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.A626G:p.D209G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.A626G:p.D209G;	1.86853859575383E-5	0.014
18	21898773	T	G	18	24318809	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon8:c.A626C:p.D209A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon8:c.A626C:p.D209A;	0.00115001664277342	0.092
18	21898774	C	A	18	24318810	y	y	splicing	OSBPL1A(NM_080597:exon9:c.626-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.626-1G>T;ENST00000578091:exon8:c.471-1G>T;ENST00000579851:exon7:c.465-1G>T;ENST00000582645:exon8:c.434-1G>T)	.	.	0.999974446092672	0.748
18	21898774	C	G	18	24318810	y	y	splicing	OSBPL1A(NM_080597:exon9:c.626-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.626-1G>C;ENST00000578091:exon8:c.471-1G>C;ENST00000579851:exon7:c.465-1G>C;ENST00000582645:exon8:c.434-1G>C)	.	.	0.999966672417134	0.752
18	21898774	C	T	18	24318810	y	y	splicing	OSBPL1A(NM_080597:exon9:c.626-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.626-1G>A;ENST00000578091:exon8:c.471-1G>A;ENST00000579851:exon7:c.465-1G>A;ENST00000582645:exon8:c.434-1G>A)	.	.	0.999967658273913	0.736
18	21898775	T	A	18	24318811	y	y	splicing	OSBPL1A(NM_080597:exon9:c.626-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.626-2A>T;ENST00000578091:exon8:c.471-2A>T;ENST00000579851:exon7:c.465-2A>T;ENST00000582645:exon8:c.434-2A>T)	.	.	0.999972155025474	0.864
18	21898775	T	C	18	24318811	y	y	splicing	OSBPL1A(NM_080597:exon9:c.626-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.626-2A>G;ENST00000578091:exon8:c.471-2A>G;ENST00000579851:exon7:c.465-2A>G;ENST00000582645:exon8:c.434-2A>G)	.	.	0.999969255906173	0.84
18	21898775	T	G	18	24318811	y	y	splicing	OSBPL1A(NM_080597:exon9:c.626-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon9:c.626-2A>C;ENST00000578091:exon8:c.471-2A>C;ENST00000579851:exon7:c.465-2A>C;ENST00000582645:exon8:c.434-2A>C)	.	.	0.999969255906173	0.84
18	21898776	G	A	18	24318812	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0295232130734075	0.142
18	21898776	G	C	18	24318812	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999787198852034	0.828
18	21898776	G	T	18	24318812	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.997234496603652	0.774
18	21898777	T	A	18	24318813	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.80061708312064E-4	0.014
18	21898777	T	C	18	24318813	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.98772828175104E-4	0.088
18	21898777	T	G	18	24318813	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.0700980341068E-4	0.012
18	21898778	G	A	18	24318814	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.30872704248952E-5	0.004
18	21898778	G	C	18	24318814	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00135265131402253	0.054
18	21898778	G	T	18	24318814	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.80659118863641E-4	0.058
18	21898779	C	A	18	24318815	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.16130696168221E-5	0.002
18	21898779	C	G	18	24318815	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.37714566636493E-5	0.006
18	21898779	C	T	18	24318815	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.24533880301451E-5	0.004
18	21898780	A	C	18	24318816	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00323189333066619	0.22
18	21898780	A	G	18	24318816	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.88467953318627E-5	0.078
18	21898780	A	T	18	24318816	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99946703807045	0.982
18	21898781	A	C	18	24318817	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00318972021286099	0.264
18	21898781	A	G	18	24318817	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.75567268264222E-4	0.002
18	21898781	A	T	18	24318817	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.116161974585036	0.396
18	21898782	A	C	18	24318818	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00369989238319883	0.336
18	21898782	A	G	18	24318818	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.76734414726317E-5	0.034
18	21898782	A	T	18	24318818	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.028263389399959	0.346
18	21898783	A	C	18	24318819	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999903236348873	0.984
18	21898783	A	G	18	24318819	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00150520668830746	0.072
18	21898783	A	T	18	24318819	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.29205293456349	0.414
18	21898784	T	A	18	24318820	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.35400118118305E-4	0.194
18	21898784	T	C	18	24318820	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.02279667803597E-5	0.0
18	21898784	T	G	18	24318820	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.74678493469718E-5	0.0
18	21898785	A	C	18	24318821	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00925642416502733	0.308
18	21898785	A	G	18	24318821	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0014707606890383	0.068
18	21898785	A	T	18	24318821	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.335719815071314	0.414
18	21912898	A	C	18	24332934	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.33815804894828E-5	0.0
18	21912898	A	G	18	24332934	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.33815804894828E-5	0.0
18	21912898	A	T	18	24332934	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.27477746119029E-5	0.018
18	21912899	T	A	18	24332935	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.12196402286868E-4	0.018
18	21912899	T	C	18	24332935	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.65602961808381E-4	0.014
18	21912899	T	G	18	24332935	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.65602961808381E-4	0.014
18	21912900	G	A	18	24332936	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.93613856369556E-5	0.006
18	21912900	G	C	18	24332936	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.80516669185249E-5	0.032
18	21912900	G	T	18	24332936	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.93967974612306E-5	0.008
18	21912901	C	A	18	24332937	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99941923451472	0.816
18	21912901	C	G	18	24332937	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99975104980085	0.936
18	21912901	C	T	18	24332937	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999010641586905	0.906
18	21912902	T	A	18	24332938	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.93017540025815	0.614
18	21912902	T	C	18	24332938	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.956637699428894	0.644
18	21912902	T	G	18	24332938	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.903701072545004	0.628
18	21912903	T	A	18	24332939	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.982878866597594	0.726
18	21912903	T	C	18	24332939	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00902721934309151	0.178
18	21912903	T	G	18	24332939	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.97537904782345	0.646
18	21912904	A	C	18	24332940	y	y	splicing	OSBPL1A(NM_080597:exon8:c.625+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.625+2T>G;ENST00000578091:exon7:c.470+2T>G;ENST00000579851:exon6:c.464+2T>G;ENST00000582645:exon7:c.433+2T>G)	.	.	0.999989917668626	0.928
18	21912904	A	G	18	24332940	y	y	splicing	OSBPL1A(NM_080597:exon8:c.625+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.625+2T>C;ENST00000578091:exon7:c.470+2T>C;ENST00000579851:exon6:c.464+2T>C;ENST00000582645:exon7:c.433+2T>C)	.	.	0.999927265809569	0.9
18	21912904	A	T	18	24332940	y	y	splicing	OSBPL1A(NM_080597:exon8:c.625+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.625+2T>A;ENST00000578091:exon7:c.470+2T>A;ENST00000579851:exon6:c.464+2T>A;ENST00000582645:exon7:c.433+2T>A)	.	.	0.999989917668626	0.928
18	21912905	C	A	18	24332941	y	y	splicing	OSBPL1A(NM_080597:exon8:c.625+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.625+1G>T;ENST00000578091:exon7:c.470+1G>T;ENST00000579851:exon6:c.464+1G>T;ENST00000582645:exon7:c.433+1G>T)	.	.	0.999981760802075	0.94
18	21912905	C	G	18	24332941	y	y	splicing	OSBPL1A(NM_080597:exon8:c.625+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.625+1G>C;ENST00000578091:exon7:c.470+1G>C;ENST00000579851:exon6:c.464+1G>C;ENST00000582645:exon7:c.433+1G>C)	.	.	0.999981760802075	0.94
18	21912905	C	T	18	24332941	y	y	splicing	OSBPL1A(NM_080597:exon8:c.625+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.625+1G>A;ENST00000578091:exon7:c.470+1G>A;ENST00000579851:exon6:c.464+1G>A;ENST00000582645:exon7:c.433+1G>A)	.	.	0.999981760802075	0.94
18	21912906	C	A	18	24332942	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.G625T:p.D209Y;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.G625T:p.D209Y;	0.999968510872131	0.964
18	21912906	C	G	18	24332942	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.G625C:p.D209H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.G625C:p.D209H;	0.999945255189102	0.974
18	21912906	C	T	18	24332942	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.G625A:p.D209N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.G625A:p.D209N;	0.99904053497099	0.984
18	21912907	A	C	18	24332943	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.T624G:p.N208K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.T624G:p.N208K;	1.97048015245502E-4	0.018
18	21912907	A	G	18	24332943	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon7:c.T624C:p.N208N;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.T624C:p.N208N;	5.3363417849979E-5	0.008
18	21912907	A	T	18	24332943	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.T624A:p.N208K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.T624A:p.N208K;	9.57907043164053E-5	0.136
18	21912908	T	A	18	24332944	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.A623T:p.N208I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.A623T:p.N208I;	0.832788673524466	0.412
18	21912908	T	C	18	24332944	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.A623G:p.N208S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.A623G:p.N208S;	0.0357044935188119	0.368
18	21912908	T	G	18	24332944	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.A623C:p.N208T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.A623C:p.N208T;	0.00226795502425335	0.038
18	21913049	A	C	18	24333085	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.T482G:p.L161R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.T482G:p.L161R;	0.330996595864003	0.406
18	21913049	A	G	18	24333085	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.T482C:p.L161P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.T482C:p.L161P;	0.61374889501412	0.42
18	21913049	A	T	18	24333085	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.T482A:p.L161H;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.T482A:p.L161H;	0.477450286847497	0.478
18	21913050	G	A	18	24333086	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.C481T:p.L161F;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.C481T:p.L161F;	0.99580140851158	0.914
18	21913050	G	C	18	24333086	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.C481G:p.L161V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.C481G:p.L161V;	0.942885033057322	0.562
18	21913050	G	T	18	24333086	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon7:c.C481A:p.L161I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon7:c.C481A:p.L161I;	0.939762067511952	0.668
18	21913051	C	A	18	24333087	y	y	splicing	OSBPL1A(NM_080597:exon8:c.481-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.481-1G>T;ENST00000578091:exon7:c.326-1G>T;ENST00000579851:exon6:c.320-1G>T;ENST00000582645:exon7:c.289-1G>T)	.	.	0.999981760802075	0.936
18	21913051	C	G	18	24333087	y	y	splicing	OSBPL1A(NM_080597:exon8:c.481-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.481-1G>C;ENST00000578091:exon7:c.326-1G>C;ENST00000579851:exon6:c.320-1G>C;ENST00000582645:exon7:c.289-1G>C)	.	.	0.999981760802075	0.936
18	21913051	C	T	18	24333087	y	y	splicing	OSBPL1A(NM_080597:exon8:c.481-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.481-1G>A;ENST00000578091:exon7:c.326-1G>A;ENST00000579851:exon6:c.320-1G>A;ENST00000582645:exon7:c.289-1G>A)	.	.	0.999981760802075	0.936
18	21913052	T	A	18	24333088	y	y	splicing	OSBPL1A(NM_080597:exon8:c.481-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.481-2A>T;ENST00000578091:exon7:c.326-2A>T;ENST00000579851:exon6:c.320-2A>T;ENST00000582645:exon7:c.289-2A>T)	.	.	0.999989917668626	0.916
18	21913052	T	C	18	24333088	y	y	splicing	OSBPL1A(NM_080597:exon8:c.481-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.481-2A>G;ENST00000578091:exon7:c.326-2A>G;ENST00000579851:exon6:c.320-2A>G;ENST00000582645:exon7:c.289-2A>G)	.	.	0.999989917668626	0.914
18	21913052	T	G	18	24333088	y	y	splicing	OSBPL1A(NM_080597:exon8:c.481-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon8:c.481-2A>C;ENST00000578091:exon7:c.326-2A>C;ENST00000579851:exon6:c.320-2A>C;ENST00000582645:exon7:c.289-2A>C)	.	.	0.999989917668626	0.914
18	21913053	A	C	18	24333089	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.996131345483002	0.716
18	21913053	A	G	18	24333089	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.76134113292097E-5	0.046
18	21913053	A	T	18	24333089	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0325028860620862	0.422
18	21913054	A	C	18	24333090	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.24573902499616E-4	0.028
18	21913054	A	G	18	24333090	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.84575882738023E-5	0.0
18	21913054	A	T	18	24333090	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.31296870237201E-4	0.03
18	21913055	C	A	18	24333091	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.43405058128612E-4	0.092
18	21913055	C	G	18	24333091	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.8840492489348E-5	0.026
18	21913055	C	T	18	24333091	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.66217413225017E-5	0.0
18	21913056	A	C	18	24333092	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.115002106121522	0.454
18	21913056	A	G	18	24333092	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00134071578295997	0.078
18	21913056	A	T	18	24333092	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.99992012660672	0.976
18	21913057	A	C	18	24333093	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999896025623089	0.974
18	21913057	A	G	18	24333093	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.65110605588131E-5	0.002
18	21913057	A	T	18	24333093	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00521295270869131	0.024
18	21913058	T	A	18	24333094	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.65909088525319E-5	0.002
18	21913058	T	C	18	24333094	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998873957703465	0.992
18	21913058	T	G	18	24333094	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.21344525649263E-5	0.002
18	21913059	T	A	18	24333095	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.72458750599083E-5	0.068
18	21913059	T	C	18	24333095	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.14928716860959E-5	0.05
18	21913059	T	G	18	24333095	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.7022957147112E-5	0.068
18	21913060	A	C	18	24333096	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.148322771508155	0.36
18	21913060	A	G	18	24333096	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.26262062115895E-4	0.15
18	21913060	A	T	18	24333096	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.133917781669491	0.394
18	21913061	A	C	18	24333097	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.21856606670305	0.674
18	21913061	A	G	18	24333097	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0052974721822385	0.31
18	21913061	A	T	18	24333097	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.986436762899759	0.7
18	21913062	A	C	18	24333098	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.411998638752699	0.422
18	21913062	A	G	18	24333098	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.39982994861539E-4	0.088
18	21913062	A	T	18	24333098	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.821570105699389	0.518
18	21914201	T	A	18	24334237	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.68087550018404E-5	0.006
18	21914201	T	C	18	24334237	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.04107911017438E-5	0.01
18	21914201	T	G	18	24334237	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.73213387832691E-5	0.008
18	21914202	G	A	18	24334238	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.54948701801145E-5	0.002
18	21914202	G	C	18	24334238	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.36656564034362E-4	0.004
18	21914202	G	T	18	24334238	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.43930412935398E-5	0.0
18	21914203	T	A	18	24334239	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.26187346364989E-4	0.034
18	21914203	T	C	18	24334239	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.49104558531041E-5	0.008
18	21914203	T	G	18	24334239	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.3636090918245E-4	0.052
18	21914204	T	A	18	24334240	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.71277143933691E-4	0.008
18	21914204	T	C	18	24334240	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.1528864574583E-5	0.02
18	21914204	T	G	18	24334240	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00144214759830415	0.05
18	21914205	T	A	18	24334241	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.926419232417242	0.75
18	21914205	T	C	18	24334241	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998101304532376	0.898
18	21914205	T	G	18	24334241	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.996004906776424	0.794
18	21914206	T	A	18	24334242	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999934584495264	0.972
18	21914206	T	C	18	24334242	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999892928343227	0.972
18	21914206	T	G	18	24334242	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999934584495264	0.972
18	21914207	A	C	18	24334243	y	y	splicing	OSBPL1A(NM_080597:exon7:c.480+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.480+2T>G;ENST00000578091:exon6:c.325+2T>G;ENST00000579851:exon5:c.319+2T>G;ENST00000582645:exon6:c.288+2T>G)	.	.	0.999992076683048	0.942
18	21914207	A	G	18	24334243	y	y	splicing	OSBPL1A(NM_080597:exon7:c.480+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.480+2T>C;ENST00000578091:exon6:c.325+2T>C;ENST00000579851:exon5:c.319+2T>C;ENST00000582645:exon6:c.288+2T>C)	.	.	0.999933976117948	0.912
18	21914207	A	T	18	24334243	y	y	splicing	OSBPL1A(NM_080597:exon7:c.480+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.480+2T>A;ENST00000578091:exon6:c.325+2T>A;ENST00000579851:exon5:c.319+2T>A;ENST00000582645:exon6:c.288+2T>A)	.	.	0.999992076683048	0.942
18	21914208	C	A	18	24334244	y	y	splicing	OSBPL1A(NM_080597:exon7:c.480+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.480+1G>T;ENST00000578091:exon6:c.325+1G>T;ENST00000579851:exon5:c.319+1G>T;ENST00000582645:exon6:c.288+1G>T)	.	.	0.999985666489905	0.95
18	21914208	C	G	18	24334244	y	y	splicing	OSBPL1A(NM_080597:exon7:c.480+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.480+1G>C;ENST00000578091:exon6:c.325+1G>C;ENST00000579851:exon5:c.319+1G>C;ENST00000582645:exon6:c.288+1G>C)	.	.	0.999985666489905	0.95
18	21914208	C	T	18	24334244	y	y	splicing	OSBPL1A(NM_080597:exon7:c.480+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.480+1G>A;ENST00000578091:exon6:c.325+1G>A;ENST00000579851:exon5:c.319+1G>A;ENST00000582645:exon6:c.288+1G>A)	.	.	0.999985666489905	0.95
18	21914209	C	A	18	24334245	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon6:c.G480T:p.L160L;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.G480T:p.L160L;	0.99994772518452	1.0
18	21914209	C	G	18	24334245	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon6:c.G480C:p.L160L;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.G480C:p.L160L;	0.999986886464837	1.0
18	21914209	C	T	18	24334245	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon6:c.G480A:p.L160L;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.G480A:p.L160L;	0.999980332947636	1.0
18	21914210	A	C	18	24334246	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon6:c.T479G:p.L160R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.T479G:p.L160R;	0.00554524876790088	0.174
18	21914210	A	G	18	24334246	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon6:c.T479C:p.L160P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.T479C:p.L160P;	0.215802705228118	0.298
18	21914210	A	T	18	24334246	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon6:c.T479A:p.L160Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.T479A:p.L160Q;	0.0543677644996259	0.436
18	21914211	G	A	18	24334247	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon6:c.C478T:p.L160L;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.C478T:p.L160L;	0.929381287803713	0.756
18	21914211	G	C	18	24334247	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon6:c.C478G:p.L160V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.C478G:p.L160V;	0.710975116067312	0.41
18	21914211	G	T	18	24334247	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon6:c.C478A:p.L160M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.C478A:p.L160M;	0.0352010319544432	0.082
18	21914293	A	C	18	24334329	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon6:c.T396G:p.A132A;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.T396G:p.A132A;	7.94521446235175E-4	0.06
18	21914293	A	G	18	24334329	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon6:c.T396C:p.A132A;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.T396C:p.A132A;	6.45621463230188E-4	0.022
18	21914293	A	T	18	24334329	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon6:c.T396A:p.A132A;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.T396A:p.A132A;	0.00172858859425871	0.058
18	21914294	G	A	18	24334330	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon6:c.C395T:p.A132V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.C395T:p.A132V;	0.978938586816329	0.9
18	21914294	G	C	18	24334330	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon6:c.C395G:p.A132G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.C395G:p.A132G;	0.812475249131985	0.748
18	21914294	G	T	18	24334330	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon6:c.C395A:p.A132D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon6:c.C395A:p.A132D;	0.857154708782666	0.806
18	21914295	C	A	18	24334331	y	y	splicing	OSBPL1A(NM_080597:exon7:c.395-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.395-1G>T;ENST00000578091:exon6:c.240-1G>T;ENST00000579851:exon5:c.234-1G>T;ENST00000582645:exon6:c.203-1G>T)	.	.	0.999981760802075	0.94
18	21914295	C	G	18	24334331	y	y	splicing	OSBPL1A(NM_080597:exon7:c.395-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.395-1G>C;ENST00000578091:exon6:c.240-1G>C;ENST00000579851:exon5:c.234-1G>C;ENST00000582645:exon6:c.203-1G>C)	.	.	0.999981760802075	0.94
18	21914295	C	T	18	24334331	y	y	splicing	OSBPL1A(NM_080597:exon7:c.395-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.395-1G>A;ENST00000578091:exon6:c.240-1G>A;ENST00000579851:exon5:c.234-1G>A;ENST00000582645:exon6:c.203-1G>A)	.	.	0.999981760802075	0.94
18	21914296	T	A	18	24334332	y	y	splicing	OSBPL1A(NM_080597:exon7:c.395-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.395-2A>T;ENST00000578091:exon6:c.240-2A>T;ENST00000579851:exon5:c.234-2A>T;ENST00000582645:exon6:c.203-2A>T)	.	.	0.999989917668626	0.928
18	21914296	T	C	18	24334332	y	y	splicing	OSBPL1A(NM_080597:exon7:c.395-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.395-2A>G;ENST00000578091:exon6:c.240-2A>G;ENST00000579851:exon5:c.234-2A>G;ENST00000582645:exon6:c.203-2A>G)	.	.	0.999989917668626	0.928
18	21914296	T	G	18	24334332	y	y	splicing	OSBPL1A(NM_080597:exon7:c.395-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon7:c.395-2A>C;ENST00000578091:exon6:c.240-2A>C;ENST00000579851:exon5:c.234-2A>C;ENST00000582645:exon6:c.203-2A>C)	.	.	0.999989917668626	0.928
18	21914297	G	A	18	24334333	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.021247510689201	0.154
18	21914297	G	C	18	24334333	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999819264182363	0.96
18	21914297	G	T	18	24334333	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.712927477661705	0.69
18	21914298	C	A	18	24334334	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.71961276544422E-5	0.002
18	21914298	C	G	18	24334334	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.58958425461623E-5	0.0
18	21914298	C	T	18	24334334	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.10642355372565E-5	0.0
18	21914299	A	C	18	24334335	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00971345473472558	0.252
18	21914299	A	G	18	24334335	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00156712122759314	0.024
18	21914299	A	T	18	24334335	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999503492657346	0.96
18	21914300	A	C	18	24334336	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00934470955111036	0.136
18	21914300	A	G	18	24334336	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.39152186137892E-4	0.006
18	21914300	A	T	18	24334336	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0111341859507331	0.11
18	21914301	A	C	18	24334337	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00258019367667126	0.098
18	21914301	A	G	18	24334337	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.72294394816805E-4	0.0
18	21914301	A	T	18	24334337	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00366699357435881	0.06
18	21914302	A	C	18	24334338	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0023214798145122	0.188
18	21914302	A	G	18	24334338	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.6792723327177E-4	0.03
18	21914302	A	T	18	24334338	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0111213705378308	0.164
18	21914303	G	A	18	24334339	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.81968350132951E-4	0.04
18	21914303	G	C	18	24334339	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00101760737076373	0.034
18	21914303	G	T	18	24334339	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00164875211615544	0.062
18	21914304	A	C	18	24334340	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.49953470873997E-4	0.066
18	21914304	A	G	18	24334340	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.01058423661642E-4	0.01
18	21914304	A	T	18	24334340	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0037990198538599	0.128
18	21914305	A	C	18	24334341	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.759861506825294	0.534
18	21914305	A	G	18	24334341	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.482456124347303	0.446
18	21914305	A	T	18	24334341	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.873069275505783	0.648
18	21914306	A	C	18	24334342	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0369130791069298	0.206
18	21914306	A	G	18	24334342	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00448395394161586	0.12
18	21914306	A	T	18	24334342	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0192422892060223	0.2
18	21921503	A	C	18	24341539	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.00961776398356E-4	0.004
18	21921503	A	G	18	24341539	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.00961776398356E-4	0.004
18	21921503	A	T	18	24341539	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.00961776398356E-4	0.004
18	21921504	T	A	18	24341540	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.52409536502491E-5	0.002
18	21921504	T	C	18	24341540	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.80305843762545E-5	0.0
18	21921504	T	G	18	24341540	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.80061352578525E-5	0.0
18	21921505	A	C	18	24341541	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00178220651395967	0.164
18	21921505	A	G	18	24341541	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0337859486377781	0.28
18	21921505	A	T	18	24341541	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0173911518561552	0.164
18	21921506	T	A	18	24341542	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.12341136265722E-4	0.006
18	21921506	T	C	18	24341542	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.77509901128606E-5	0.008
18	21921506	T	G	18	24341542	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.81307039796902E-4	0.018
18	21921507	T	A	18	24341543	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.320634046920183	0.414
18	21921507	T	C	18	24341543	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.27324838632429	0.406
18	21921507	T	G	18	24341543	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.322826652655814	0.416
18	21921508	T	A	18	24341544	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.994036646276267	0.664
18	21921508	T	C	18	24341544	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.219406248267501	0.44
18	21921508	T	G	18	24341544	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.996758790949661	0.748
18	21921509	A	C	18	24341545	y	y	splicing	OSBPL1A(NM_080597:exon6:c.394+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.394+2T>G;ENST00000578091:exon5:c.239+2T>G;ENST00000579851:exon4:c.233+2T>G)	.	.	0.999986903042585	0.926
18	21921509	A	G	18	24341545	y	y	splicing	OSBPL1A(NM_080597:exon6:c.394+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.394+2T>C;ENST00000578091:exon5:c.239+2T>C;ENST00000579851:exon4:c.233+2T>C)	.	.	0.996657333966545	0.65
18	21921509	A	T	18	24341545	y	y	splicing	OSBPL1A(NM_080597:exon6:c.394+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.394+2T>A;ENST00000578091:exon5:c.239+2T>A;ENST00000579851:exon4:c.233+2T>A)	.	.	0.999986903042585	0.928
18	21921510	C	A	18	24341546	y	y	splicing	OSBPL1A(NM_080597:exon6:c.394+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.394+1G>T;ENST00000578091:exon5:c.239+1G>T;ENST00000579851:exon4:c.233+1G>T)	.	.	0.999981760802075	0.94
18	21921510	C	G	18	24341546	y	y	splicing	OSBPL1A(NM_080597:exon6:c.394+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.394+1G>C;ENST00000578091:exon5:c.239+1G>C;ENST00000579851:exon4:c.233+1G>C)	.	.	0.999981760802075	0.944
18	21921510	C	T	18	24341546	y	y	splicing	OSBPL1A(NM_080597:exon6:c.394+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.394+1G>A;ENST00000578091:exon5:c.239+1G>A;ENST00000579851:exon4:c.233+1G>A)	.	.	0.999981760802075	0.942
18	21921511	C	A	18	24341547	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.G394T:p.A132S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.G394T:p.A132S;	0.999964342321349	0.986
18	21921511	C	G	18	24341547	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.G394C:p.A132P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.G394C:p.A132P;	0.999997690078459	1.0
18	21921511	C	T	18	24341547	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.G394A:p.A132T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.G394A:p.A132T;	0.999959041917915	0.998
18	21921512	T	A	18	24341548	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.A393T:p.E131D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.A393T:p.E131D;	0.996934183139713	0.93
18	21921512	T	C	18	24341548	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon5:c.A393G:p.E131E;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.A393G:p.E131E;	0.859614216864759	0.678
18	21921512	T	G	18	24341548	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.A393C:p.E131D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.A393C:p.E131D;	0.985833630921939	0.838
18	21921513	T	A	18	24341549	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.A392T:p.E131V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.A392T:p.E131V;	0.948852932702127	0.614
18	21921513	T	C	18	24341549	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.A392G:p.E131G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.A392G:p.E131G;	0.0740063780700365	0.408
18	21921513	T	G	18	24341549	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.A392C:p.E131A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.A392C:p.E131A;	0.0606500100251218	0.372
18	21921621	T	A	18	24341657	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.A284T:p.E95V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon4:c.A129T:p.R43S;ENSG00000141447:ENST00000319481:exon5:c.A284T:p.E95V;	0.760982097804079	0.75
18	21921621	T	C	18	24341657	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.A284G:p.E95G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon5:c.A284G:p.E95G;	0.819291254109093	0.638
18	21921621	T	G	18	24341657	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.A284C:p.E95A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon4:c.A129C:p.R43S;ENSG00000141447:ENST00000319481:exon5:c.A284C:p.E95A;	0.861961587689876	0.832
18	21921622	C	A	18	24341658	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon5:c.G283T:p.E95X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon5:c.G283T:p.E95X;	0.99995629860089	0.97
18	21921622	C	G	18	24341658	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.G283C:p.E95Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon4:c.G128C:p.R43T;ENSG00000141447:ENST00000579851:exon3:c.G122C:p.G41A;ENSG00000141447:ENST00000319481:exon5:c.G283C:p.E95Q;	0.999334941673384	0.93
18	21921622	C	T	18	24341658	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon5:c.G283A:p.E95K;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon4:c.G128A:p.R43K;ENSG00000141447:ENST00000579851:exon3:c.G122A:p.G41E;ENSG00000141447:ENST00000319481:exon5:c.G283A:p.E95K;	0.986965416793079	0.78
18	21921623	C	A	18	24341659	y	y	splicing	OSBPL1A(NM_080597:exon6:c.283-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.283-1G>T;ENST00000578091:exon5:c.128-1G>T;ENST00000579851:exon4:c.122-1G>T)	.	.	0.999985666489905	0.94
18	21921623	C	G	18	24341659	y	y	splicing	OSBPL1A(NM_080597:exon6:c.283-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.283-1G>C;ENST00000578091:exon5:c.128-1G>C;ENST00000579851:exon4:c.122-1G>C)	.	.	0.999985666489905	0.94
18	21921623	C	T	18	24341659	y	y	splicing	OSBPL1A(NM_080597:exon6:c.283-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.283-1G>A;ENST00000578091:exon5:c.128-1G>A;ENST00000579851:exon4:c.122-1G>A)	.	.	0.999985666489905	0.94
18	21921624	T	A	18	24341660	y	y	splicing	OSBPL1A(NM_080597:exon6:c.283-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.283-2A>T;ENST00000578091:exon5:c.128-2A>T;ENST00000579851:exon4:c.122-2A>T)	.	.	0.999989475352021	0.926
18	21921624	T	C	18	24341660	y	y	splicing	OSBPL1A(NM_080597:exon6:c.283-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.283-2A>G;ENST00000578091:exon5:c.128-2A>G;ENST00000579851:exon4:c.122-2A>G)	.	.	0.999989475352021	0.926
18	21921624	T	G	18	24341660	y	y	splicing	OSBPL1A(NM_080597:exon6:c.283-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon6:c.283-2A>C;ENST00000578091:exon5:c.128-2A>C;ENST00000579851:exon4:c.122-2A>C)	.	.	0.999989475352021	0.926
18	21921625	A	C	18	24341661	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.988869878719423	0.668
18	21921625	A	G	18	24341661	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.11166023978222E-5	0.038
18	21921625	A	T	18	24341661	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0114695138127851	0.316
18	21921626	A	C	18	24341662	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00195502394089789	0.102
18	21921626	A	G	18	24341662	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.69664762289683E-5	0.12
18	21921626	A	T	18	24341662	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.52396458339218E-4	0.02
18	21921627	A	C	18	24341663	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.970783065410316	0.654
18	21921627	A	G	18	24341663	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.16248974695323	0.24
18	21921627	A	T	18	24341663	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.990968631909037	0.666
18	21921628	A	C	18	24341664	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.569663839924246	0.49
18	21921628	A	G	18	24341664	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.70791064751272E-4	0.03
18	21921628	A	T	18	24341664	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0722711191245372	0.352
18	21921629	A	C	18	24341665	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999963641355396	0.996
18	21921629	A	G	18	24341665	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.57088917296166E-5	0.006
18	21921629	A	T	18	24341665	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0045207948408657	0.184
18	21921630	T	A	18	24341666	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.73585780968525E-5	0.0
18	21921630	T	C	18	24341666	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.38116803768938E-5	0.0
18	21921630	T	G	18	24341666	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.72805602056204E-5	0.014
18	21921631	C	A	18	24341667	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.32186368474212E-5	0.0
18	21921631	C	G	18	24341667	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.63604438296231E-5	0.01
18	21921631	C	T	18	24341667	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.48500679692016E-4	0.006
18	21921632	A	C	18	24341668	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0526332527334737	0.448
18	21921632	A	G	18	24341668	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.48199597861512E-4	0.068
18	21921632	A	T	18	24341668	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999876124146492	0.962
18	21921633	G	A	18	24341669	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.24867214394113E-5	0.01
18	21921633	G	C	18	24341669	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.77849518935735E-4	0.012
18	21921633	G	T	18	24341669	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.34968439520166E-4	0.062
18	21921634	A	C	18	24341670	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.597595689380592	0.466
18	21921634	A	G	18	24341670	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0018027946477702	0.136
18	21921634	A	T	18	24341670	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.353453823291694	0.452
18	21938474	A	C	18	24358510	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399441:exon5:c.T284G:p.I95S;	6.59706358747764E-5	0.0
18	21938474	A	G	18	24358510	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399441:exon5:c.T284C:p.I95T;	4.39765988491657E-5	0.008
18	21938474	A	T	18	24358510	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399441:exon5:c.T284A:p.I95N;	3.62965044666173E-5	0.0
18	21938475	T	A	18	24358511	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399441:exon5:c.A283T:p.I95F;	5.58255349957421E-5	0.0
18	21938475	T	C	18	24358511	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399441:exon5:c.A283G:p.I95V;	3.94286898449511E-5	0.008
18	21938475	T	G	18	24358511	n	y	intronic	OSBPL1A	.	.	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000399441:exon5:c.A283C:p.I95L;	5.05808194911997E-5	0.0
18	21938476	C	A	18	24358512	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000399441:exon6:c.283-1G>T)	.	.	7.3525528897954E-5	0.01
18	21938476	C	G	18	24358512	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000399441:exon6:c.283-1G>C)	.	.	9.83188681281962E-5	0.014
18	21938476	C	T	18	24358512	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000399441:exon6:c.283-1G>A)	.	.	7.3525528897954E-5	0.004
18	21938477	T	A	18	24358513	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000399441:exon6:c.283-2A>T)	.	.	4.22788067510469E-5	0.0
18	21938477	T	C	18	24358513	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000399441:exon6:c.283-2A>G)	.	.	4.22788067510469E-5	0.0
18	21938477	T	G	18	24358513	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447(ENST00000399441:exon6:c.283-2A>C)	.	.	4.22788067510469E-5	0.0
18	21938478	A	C	18	24358514	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.20740353029488E-5	0.0
18	21938478	A	G	18	24358514	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.20740353029488E-5	0.0
18	21938478	A	T	18	24358514	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.38183787611534E-5	0.0
18	21938479	G	A	18	24358515	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.42005417025298E-5	0.002
18	21938479	G	C	18	24358515	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.35379928190213E-5	0.0
18	21938479	G	T	18	24358515	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.35379928190213E-5	0.004
18	21938480	A	C	18	24358516	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.84193600056129E-5	0.002
18	21938480	A	G	18	24358516	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.84193600056129E-5	0.002
18	21938480	A	T	18	24358516	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.84193600056129E-5	0.002
18	21938481	A	C	18	24358517	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.07620641825897E-5	0.002
18	21938481	A	G	18	24358517	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.07620641825897E-5	0.002
18	21938481	A	T	18	24358517	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.07620641825897E-5	0.002
18	21938482	C	A	18	24358518	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.91864902820758E-5	0.0
18	21938482	C	G	18	24358518	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.91864902820758E-5	0.0
18	21938482	C	T	18	24358518	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.91864902820758E-5	0.0
18	21938483	A	C	18	24358519	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.69692329001126E-5	0.0
18	21938483	A	G	18	24358519	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.69692329001126E-5	0.0
18	21938483	A	T	18	24358519	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.40148198700121E-5	0.006
18	21938484	A	C	18	24358520	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41036740142694E-4	0.002
18	21938484	A	G	18	24358520	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41036740142694E-4	0.002
18	21938484	A	T	18	24358520	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41036740142694E-4	0.002
18	21938485	A	C	18	24358521	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41036740142694E-4	0.002
18	21938485	A	G	18	24358521	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41036740142694E-4	0.002
18	21938485	A	T	18	24358521	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.41036740142694E-4	0.002
18	21938486	T	A	18	24358522	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.70081261255395E-5	0.0
18	21938486	T	C	18	24358522	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.78716126261033E-5	0.0
18	21938486	T	G	18	24358522	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.78716126261033E-5	0.0
18	21938487	T	A	18	24358523	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.6997206367488E-5	0.072
18	21938487	T	C	18	24358523	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.14353495740982E-5	0.006
18	21938487	T	G	18	24358523	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.18551054981151E-5	0.0
18	21946848	A	C	18	24366884	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.61864056126122E-4	0.002
18	21946848	A	G	18	24366884	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.61864056126122E-4	0.002
18	21946848	A	T	18	24366884	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.31453553090852E-4	0.0
18	21946849	T	A	18	24366885	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.0025182756799103	0.196
18	21946849	T	C	18	24366885	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.77620239682594E-4	0.02
18	21946849	T	G	18	24366885	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	9.55211101266226E-5	0.0
18	21946850	T	A	18	24366886	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	2.47124082745722E-4	0.024
18	21946850	T	C	18	24366886	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	7.11287001674098E-5	0.036
18	21946850	T	G	18	24366886	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.00141466039365482	0.114
18	21946851	T	A	18	24366887	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.00128606399820646	0.12
18	21946851	T	C	18	24366887	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	8.14810858596775E-4	0.026
18	21946851	T	G	18	24366887	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.22943351991038E-4	0.036
18	21946852	T	A	18	24366888	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.999556637722828	0.966
18	21946852	T	C	18	24366888	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.999660159081058	0.998
18	21946852	T	G	18	24366888	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.998813720483161	0.92
18	21946853	C	A	18	24366889	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.991234372729353	0.776
18	21946853	C	G	18	24366889	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.994521825529495	0.788
18	21946853	C	T	18	24366889	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	2.76403138262201E-4	0.068
18	21946854	A	C	18	24366890	y	y	splicing	OSBPL1A(NM_080597:exon5:c.282+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.282+2T>G;ENST00000582645:exon5:c.202+2T>G;ENST00000399441:exon5:c.282+2T>G)	.	.	0.999990155693597	0.946
18	21946854	A	G	18	24366890	y	y	splicing	OSBPL1A(NM_080597:exon5:c.282+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.282+2T>C;ENST00000582645:exon5:c.202+2T>C;ENST00000399441:exon5:c.282+2T>C)	.	.	0.999928972209748	0.874
18	21946854	A	T	18	24366890	y	y	splicing	OSBPL1A(NM_080597:exon5:c.282+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.282+2T>A;ENST00000582645:exon5:c.202+2T>A;ENST00000399441:exon5:c.282+2T>A)	.	.	0.999990155693597	0.944
18	21946855	C	A	18	24366891	y	y	splicing	OSBPL1A(NM_080597:exon5:c.282+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.282+1G>T;ENST00000582645:exon5:c.202+1G>T;ENST00000399441:exon5:c.282+1G>T)	.	.	0.999986675681007	0.956
18	21946855	C	G	18	24366891	y	y	splicing	OSBPL1A(NM_080597:exon5:c.282+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.282+1G>C;ENST00000582645:exon5:c.202+1G>C;ENST00000399441:exon5:c.282+1G>C)	.	.	0.999986675681007	0.956
18	21946855	C	T	18	24366891	y	y	splicing	OSBPL1A(NM_080597:exon5:c.282+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.282+1G>A;ENST00000582645:exon5:c.202+1G>A;ENST00000399441:exon5:c.282+1G>A)	.	.	0.999986675681007	0.956
18	21946856	C	A	18	24366892	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.G282T:p.K94N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.G282T:p.K94N;ENSG00000141447:ENST00000399441:exon4:c.G282T:p.K94N;	0.999989622619037	0.998
18	21946856	C	G	18	24366892	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.G282C:p.K94N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.G282C:p.K94N;ENSG00000141447:ENST00000399441:exon4:c.G282C:p.K94N;	0.999997852716802	1.0
18	21946856	C	T	18	24366892	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon4:c.G282A:p.K94K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.G282A:p.K94K;ENSG00000141447:ENST00000399441:exon4:c.G282A:p.K94K;	0.999978031454302	0.998
18	21946857	T	A	18	24366893	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.A281T:p.K94M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.A281T:p.K94M;ENSG00000141447:ENST00000399441:exon4:c.A281T:p.K94M;	0.999964249060284	1.0
18	21946857	T	C	18	24366893	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.A281G:p.K94R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.A281G:p.K94R;ENSG00000141447:ENST00000399441:exon4:c.A281G:p.K94R;	0.99997494714508	0.998
18	21946857	T	G	18	24366893	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.A281C:p.K94T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.A281C:p.K94T;ENSG00000141447:ENST00000399441:exon4:c.A281C:p.K94T;	0.999868981531185	1.0
18	21946858	T	A	18	24366894	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon4:c.A280T:p.K94X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon4:c.A280T:p.K94X;ENSG00000141447:ENST00000399441:exon4:c.A280T:p.K94X;	0.945497540008361	0.762
18	21946858	T	C	18	24366894	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.A280G:p.K94E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.A280G:p.K94E;ENSG00000141447:ENST00000399441:exon4:c.A280G:p.K94E;	0.102619746609577	0.326
18	21946858	T	G	18	24366894	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.A280C:p.K94Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.A280C:p.K94Q;ENSG00000141447:ENST00000399441:exon4:c.A280C:p.K94Q;	0.0171049809696285	0.282
18	21946929	G	A	18	24366965	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.C209T:p.A70V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.C209T:p.A70V;ENSG00000141447:ENST00000399441:exon4:c.C209T:p.A70V;	0.847114119588623	0.706
18	21946929	G	C	18	24366965	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.C209G:p.A70G;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.C209G:p.A70G;ENSG00000141447:ENST00000399441:exon4:c.C209G:p.A70G;ENSG00000141447:ENST00000582645:exon4:c.C129G:p.S43R;	0.00451749956545377	0.088
18	21946929	G	T	18	24366965	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.C209A:p.A70D;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.C209A:p.A70D;ENSG00000141447:ENST00000399441:exon4:c.C209A:p.A70D;ENSG00000141447:ENST00000582645:exon4:c.C129A:p.S43R;	0.0533781949490789	0.144
18	21946930	C	A	18	24366966	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.G208T:p.A70S;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.G208T:p.A70S;ENSG00000141447:ENST00000399441:exon4:c.G208T:p.A70S;ENSG00000141447:ENST00000582645:exon4:c.G128T:p.S43I;	0.999766806800936	0.986
18	21946930	C	G	18	24366966	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.G208C:p.A70P;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.G208C:p.A70P;ENSG00000141447:ENST00000399441:exon4:c.G208C:p.A70P;ENSG00000141447:ENST00000582645:exon4:c.G128C:p.S43T;	0.999627148631014	0.942
18	21946930	C	T	18	24366966	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon4:c.G208A:p.A70T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon4:c.G208A:p.A70T;ENSG00000141447:ENST00000399441:exon4:c.G208A:p.A70T;ENSG00000141447:ENST00000582645:exon4:c.G128A:p.S43N;	0.999162283816712	0.894
18	21946931	C	A	18	24366967	y	y	splicing	OSBPL1A(NM_080597:exon5:c.208-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.208-1G>T;ENST00000582645:exon5:c.128-1G>T;ENST00000399441:exon5:c.208-1G>T)	.	.	0.999989528922238	0.944
18	21946931	C	G	18	24366967	y	y	splicing	OSBPL1A(NM_080597:exon5:c.208-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.208-1G>C;ENST00000582645:exon5:c.128-1G>C;ENST00000399441:exon5:c.208-1G>C)	.	.	0.999989528922238	0.944
18	21946931	C	T	18	24366967	y	y	splicing	OSBPL1A(NM_080597:exon5:c.208-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.208-1G>A;ENST00000582645:exon5:c.128-1G>A;ENST00000399441:exon5:c.208-1G>A)	.	.	0.999989528922238	0.944
18	21946932	T	A	18	24366968	y	y	splicing	OSBPL1A(NM_080597:exon5:c.208-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.208-2A>T;ENST00000582645:exon5:c.128-2A>T;ENST00000399441:exon5:c.208-2A>T)	.	.	0.999992263738125	0.934
18	21946932	T	C	18	24366968	y	y	splicing	OSBPL1A(NM_080597:exon5:c.208-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.208-2A>G;ENST00000582645:exon5:c.128-2A>G;ENST00000399441:exon5:c.208-2A>G)	.	.	0.999992263738125	0.934
18	21946932	T	G	18	24366968	y	y	splicing	OSBPL1A(NM_080597:exon5:c.208-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon5:c.208-2A>C;ENST00000582645:exon5:c.128-2A>C;ENST00000399441:exon5:c.208-2A>C)	.	.	0.999992263738125	0.934
18	21946933	A	C	18	24366969	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.982730039052419	0.654
18	21946933	A	G	18	24366969	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	9.92556415859329E-5	0.14
18	21946933	A	T	18	24366969	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.620682589202115	0.428
18	21946934	G	A	18	24366970	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.50507398346987E-4	0.05
18	21946934	G	C	18	24366970	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.998963987050166	0.932
18	21946934	G	T	18	24366970	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	3.38945093298809E-5	0.012
18	21946935	T	A	18	24366971	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.36365929677653E-4	0.134
18	21946935	T	C	18	24366971	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.10664459066196E-4	0.016
18	21946935	T	G	18	24366971	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	9.63525199097662E-5	0.014
18	21946936	A	C	18	24366972	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.94889213921612	0.788
18	21946936	A	G	18	24366972	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	2.59494717614016E-4	0.058
18	21946936	A	T	18	24366972	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.923909868915091	0.694
18	21946937	A	C	18	24366973	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.0254278329968061	0.31
18	21946937	A	G	18	24366973	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	2.63544580497033E-5	0.032
18	21946937	A	T	18	24366973	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.0506177235389089	0.334
18	21946938	A	C	18	24366974	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.981731334689635	0.802
18	21946938	A	G	18	24366974	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	3.31180816590764E-4	0.028
18	21946938	A	T	18	24366974	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.986521783778159	0.766
18	21946939	C	A	18	24366975	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	2.67597530167608E-5	0.014
18	21946939	C	G	18	24366975	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	3.57722340696341E-5	0.002
18	21946939	C	T	18	24366975	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.02624581225733E-4	0.014
18	21946940	A	C	18	24366976	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.999989751748716	0.97
18	21946940	A	G	18	24366976	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.141480302205944	0.396
18	21946940	A	T	18	24366976	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.999989787525481	0.97
18	21946941	T	A	18	24366977	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	1.59532353579326E-4	0.014
18	21946941	T	C	18	24366977	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	7.171585489892E-5	0.024
18	21946941	T	G	18	24366977	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	8.27604177455188E-5	0.01
18	21946942	G	A	18	24366978	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	5.84283852098437E-4	0.03
18	21946942	G	C	18	24366978	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.0233286255275605	0.128
18	21946942	G	T	18	24366978	y	y	intronic	OSBPL1A	.	.	ncRNA_intronic	ENSG00000264365	.	.	0.013797145348625	0.078
18	21948243	A	C	18	24368279	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.19101233863473E-4	0.202
18	21948243	A	G	18	24368279	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.19101233863473E-4	0.038
18	21948243	A	T	18	24368279	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.39584064789545E-4	0.018
18	21948244	A	C	18	24368280	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.284616321472156	0.606
18	21948244	A	G	18	24368280	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.324118020800009	0.636
18	21948244	A	T	18	24368280	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.500239941318388	0.674
18	21948245	A	C	18	24368281	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.806090720652731	0.552
18	21948245	A	G	18	24368281	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.520946473029199	0.62
18	21948245	A	T	18	24368281	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.878220586240041	0.598
18	21948246	T	A	18	24368282	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.82737013625138E-4	0.086
18	21948246	T	C	18	24368282	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.27684274077545E-4	0.042
18	21948246	T	G	18	24368282	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0028188934128595	0.148
18	21948247	A	C	18	24368283	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00202780662562033	0.144
18	21948247	A	G	18	24368283	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.158364830276182	0.324
18	21948247	A	T	18	24368283	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.31019126296299E-4	0.128
18	21948248	G	A	18	24368284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.76850569145596E-4	0.126
18	21948248	G	C	18	24368284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.20576480802874E-4	0.128
18	21948248	G	T	18	24368284	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.66661490904155E-4	0.046
18	21948249	A	C	18	24368285	y	y	splicing	OSBPL1A(NM_080597:exon4:c.207+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.207+2T>G;ENST00000399441:exon4:c.207+2T>G)	.	.	0.999907579480858	0.866
18	21948249	A	G	18	24368285	y	y	splicing	OSBPL1A(NM_080597:exon4:c.207+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.207+2T>C;ENST00000399441:exon4:c.207+2T>C)	.	.	0.957019857557194	0.516
18	21948249	A	T	18	24368285	y	y	splicing	OSBPL1A(NM_080597:exon4:c.207+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.207+2T>A;ENST00000399441:exon4:c.207+2T>A)	.	.	0.999917474297414	0.874
18	21948250	C	A	18	24368286	y	y	splicing	OSBPL1A(NM_080597:exon4:c.207+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.207+1G>T;ENST00000399441:exon4:c.207+1G>T)	.	.	0.999937817114705	0.892
18	21948250	C	G	18	24368286	y	y	splicing	OSBPL1A(NM_080597:exon4:c.207+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.207+1G>C;ENST00000399441:exon4:c.207+1G>C)	.	.	0.999937817114705	0.89
18	21948250	C	T	18	24368286	y	y	splicing	OSBPL1A(NM_080597:exon4:c.207+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.207+1G>A;ENST00000399441:exon4:c.207+1G>A)	.	.	0.999937817114705	0.892
18	21948251	C	A	18	24368287	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.G207T:p.K69N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon3:c.G207T:p.K69N;ENSG00000141447:ENST00000399441:exon3:c.G207T:p.K69N;	0.999915693600495	0.95
18	21948251	C	G	18	24368287	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.G207C:p.K69N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon3:c.G207C:p.K69N;ENSG00000141447:ENST00000399441:exon3:c.G207C:p.K69N;	0.999936388258111	0.954
18	21948251	C	T	18	24368287	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon3:c.G207A:p.K69K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000319481:exon3:c.G207A:p.K69K;ENSG00000141447:ENST00000399441:exon3:c.G207A:p.K69K;	0.999956074218591	0.956
18	21948252	T	A	18	24368288	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.A206T:p.K69M;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon3:c.A206T:p.K69M;ENSG00000141447:ENST00000399441:exon3:c.A206T:p.K69M;	0.998574482610476	0.914
18	21948252	T	C	18	24368288	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.A206G:p.K69R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon3:c.A206G:p.K69R;ENSG00000141447:ENST00000399441:exon3:c.A206G:p.K69R;	0.999717491162618	0.954
18	21948252	T	G	18	24368288	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.A206C:p.K69T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon3:c.A206C:p.K69T;ENSG00000141447:ENST00000399441:exon3:c.A206C:p.K69T;	0.999596898390952	0.952
18	21948253	T	A	18	24368289	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon3:c.A205T:p.K69X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000319481:exon3:c.A205T:p.K69X;ENSG00000141447:ENST00000399441:exon3:c.A205T:p.K69X;	0.920227328860941	0.722
18	21948253	T	C	18	24368289	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.A205G:p.K69E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon3:c.A205G:p.K69E;ENSG00000141447:ENST00000399441:exon3:c.A205G:p.K69E;	0.270656999292633	0.3
18	21948253	T	G	18	24368289	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.A205C:p.K69Q;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000319481:exon3:c.A205C:p.K69Q;ENSG00000141447:ENST00000399441:exon3:c.A205C:p.K69Q;	0.0151039322308738	0.312
18	21948335	T	A	18	24368371	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon3:c.A123T:p.G41G;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000578091:exon3:c.A123T:p.G41G;ENSG00000141447:ENST00000319481:exon3:c.A123T:p.G41G;ENSG00000141447:ENST00000399441:exon3:c.A123T:p.G41G;ENSG00000141447:ENST00000582645:exon3:c.A123T:p.G41G;	1.97142167880304E-4	0.0
18	21948335	T	C	18	24368371	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon3:c.A123G:p.G41G;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000578091:exon3:c.A123G:p.G41G;ENSG00000141447:ENST00000319481:exon3:c.A123G:p.G41G;ENSG00000141447:ENST00000399441:exon3:c.A123G:p.G41G;ENSG00000141447:ENST00000582645:exon3:c.A123G:p.G41G;	0.00120138215163265	0.034
18	21948335	T	G	18	24368371	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon3:c.A123C:p.G41G;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000578091:exon3:c.A123C:p.G41G;ENSG00000141447:ENST00000319481:exon3:c.A123C:p.G41G;ENSG00000141447:ENST00000399441:exon3:c.A123C:p.G41G;ENSG00000141447:ENST00000582645:exon3:c.A123C:p.G41G;	0.00638809548290963	0.06
18	21948336	C	A	18	24368372	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.G122T:p.G41V;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon3:c.G122T:p.G41V;ENSG00000141447:ENST00000319481:exon3:c.G122T:p.G41V;ENSG00000141447:ENST00000399441:exon3:c.G122T:p.G41V;ENSG00000141447:ENST00000582645:exon3:c.G122T:p.G41V;	0.959292841794137	0.778
18	21948336	C	G	18	24368372	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.G122C:p.G41A;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon3:c.G122C:p.G41A;ENSG00000141447:ENST00000319481:exon3:c.G122C:p.G41A;ENSG00000141447:ENST00000399441:exon3:c.G122C:p.G41A;ENSG00000141447:ENST00000582645:exon3:c.G122C:p.G41A;	0.923036450646945	0.688
18	21948336	C	T	18	24368372	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon3:c.G122A:p.G41E;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon3:c.G122A:p.G41E;ENSG00000141447:ENST00000319481:exon3:c.G122A:p.G41E;ENSG00000141447:ENST00000399441:exon3:c.G122A:p.G41E;ENSG00000141447:ENST00000582645:exon3:c.G122A:p.G41E;	0.437936379418495	0.486
18	21948337	C	A	18	24368373	y	y	splicing	OSBPL1A(NM_080597:exon4:c.122-1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.122-1G>T;ENST00000578091:exon4:c.122-1G>T;ENST00000582645:exon4:c.122-1G>T;ENST00000399441:exon4:c.122-1G>T)	.	.	0.999986675681007	0.93
18	21948337	C	G	18	24368373	y	y	splicing	OSBPL1A(NM_080597:exon4:c.122-1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.122-1G>C;ENST00000578091:exon4:c.122-1G>C;ENST00000582645:exon4:c.122-1G>C;ENST00000399441:exon4:c.122-1G>C)	.	.	0.999986675681007	0.93
18	21948337	C	T	18	24368373	y	y	splicing	OSBPL1A(NM_080597:exon4:c.122-1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.122-1G>A;ENST00000578091:exon4:c.122-1G>A;ENST00000582645:exon4:c.122-1G>A;ENST00000399441:exon4:c.122-1G>A)	.	.	0.999986675681007	0.93
18	21948338	T	A	18	24368374	y	y	splicing	OSBPL1A(NM_080597:exon4:c.122-2A>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.122-2A>T;ENST00000578091:exon4:c.122-2A>T;ENST00000582645:exon4:c.122-2A>T;ENST00000399441:exon4:c.122-2A>T)	.	.	0.999990155693597	0.926
18	21948338	T	C	18	24368374	y	y	splicing	OSBPL1A(NM_080597:exon4:c.122-2A>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.122-2A>G;ENST00000578091:exon4:c.122-2A>G;ENST00000582645:exon4:c.122-2A>G;ENST00000399441:exon4:c.122-2A>G)	.	.	0.999990155693597	0.926
18	21948338	T	G	18	24368374	y	y	splicing	OSBPL1A(NM_080597:exon4:c.122-2A>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon4:c.122-2A>C;ENST00000578091:exon4:c.122-2A>C;ENST00000582645:exon4:c.122-2A>C;ENST00000399441:exon4:c.122-2A>C)	.	.	0.999990155693597	0.926
18	21948339	A	C	18	24368375	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.995124329890619	0.704
18	21948339	A	G	18	24368375	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00140012724033032	0.02
18	21948339	A	T	18	24368375	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.24054609636934	0.296
18	21948340	A	C	18	24368376	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.34117015396644E-4	0.02
18	21948340	A	G	18	24368376	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.72432756400776E-4	0.002
18	21948340	A	T	18	24368376	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.34117015396644E-4	0.022
18	21948341	A	C	18	24368377	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0158266236968309	0.298
18	21948341	A	G	18	24368377	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00108546074345954	0.122
18	21948341	A	T	18	24368377	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00391075804577303	0.238
18	21948342	A	C	18	24368378	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0300301543249855	0.272
18	21948342	A	G	18	24368378	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0022307568730102	0.08
18	21948342	A	T	18	24368378	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00794963033801302	0.204
18	21948343	A	C	18	24368379	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999177228674383	0.988
18	21948343	A	G	18	24368379	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.05879900138376E-5	0.0
18	21948343	A	T	18	24368379	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.18741653221049E-4	0.042
18	21948344	T	A	18	24368380	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.44868388358743E-5	0.0
18	21948344	T	C	18	24368380	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.27023777791932E-4	0.002
18	21948344	T	G	18	24368380	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.38669706616796E-5	0.006
18	21948345	G	A	18	24368381	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0298513419234916	0.29
18	21948345	G	C	18	24368381	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.016981088769245	0.126
18	21948345	G	T	18	24368381	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0212491213889834	0.138
18	21948346	G	A	18	24368382	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.50457999551723E-4	0.174
18	21948346	G	C	18	24368382	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.25117012565106E-4	0.062
18	21948346	G	T	18	24368382	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.31727104392819E-4	0.084
18	21948347	A	C	18	24368383	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.96849975293297E-5	0.208
18	21948347	A	G	18	24368383	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.76763195006729E-5	0.102
18	21948347	A	T	18	24368383	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.49109220911653E-4	0.31
18	21948348	A	C	18	24368384	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.86159208752317E-5	0.124
18	21948348	A	G	18	24368384	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.82263542543103E-5	0.066
18	21948348	A	T	18	24368384	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.02958648534651E-4	0.132
18	21957369	A	C	18	24377405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.17623286083439E-5	0.062
18	21957369	A	G	18	24377405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.82657333321586E-5	0.056
18	21957369	A	T	18	24377405	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.17623286083439E-5	0.062
18	21957370	A	C	18	24377406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.29593001482333E-4	0.01
18	21957370	A	G	18	24377406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.26775744778275E-4	0.032
18	21957370	A	T	18	24377406	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.4919163553804E-4	0.022
18	21957371	G	A	18	24377407	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.3118309951138E-4	0.016
18	21957371	G	C	18	24377407	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00227141559876158	0.034
18	21957371	G	T	18	24377407	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00347742110668435	0.09
18	21957372	T	A	18	24377408	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00191248410272777	0.062
18	21957372	T	C	18	24377408	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.47174514798534E-4	0.018
18	21957372	T	G	18	24377408	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.52211487648583E-4	0.09
18	21957373	T	A	18	24377409	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.697141167508733	0.356
18	21957373	T	C	18	24377409	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.181797486682973	0.22
18	21957373	T	G	18	24377409	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.117312456553862	0.336
18	21957374	T	A	18	24377410	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.997589236418734	0.786
18	21957374	T	C	18	24377410	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.373285149900965	0.578
18	21957374	T	G	18	24377410	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.997316471257052	0.798
18	21957375	A	C	18	24377411	y	y	splicing	OSBPL1A(NM_080597:exon3:c.121+2T>G)	.	.	splicing	ENSG00000141447(ENST00000319481:exon3:c.121+2T>G;ENST00000578091:exon3:c.121+2T>G;ENST00000579851:exon3:c.121+2T>G;ENST00000582645:exon3:c.121+2T>G;ENST00000399441:exon3:c.121+2T>G)	.	.	0.999988247793601	0.948
18	21957375	A	G	18	24377411	y	y	splicing	OSBPL1A(NM_080597:exon3:c.121+2T>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon3:c.121+2T>C;ENST00000578091:exon3:c.121+2T>C;ENST00000579851:exon3:c.121+2T>C;ENST00000582645:exon3:c.121+2T>C;ENST00000399441:exon3:c.121+2T>C)	.	.	0.98918007292081	0.62
18	21957375	A	T	18	24377411	y	y	splicing	OSBPL1A(NM_080597:exon3:c.121+2T>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon3:c.121+2T>A;ENST00000578091:exon3:c.121+2T>A;ENST00000579851:exon3:c.121+2T>A;ENST00000582645:exon3:c.121+2T>A;ENST00000399441:exon3:c.121+2T>A)	.	.	0.999988247793601	0.948
18	21957376	C	A	18	24377412	y	y	splicing	OSBPL1A(NM_080597:exon3:c.121+1G>T)	.	.	splicing	ENSG00000141447(ENST00000319481:exon3:c.121+1G>T;ENST00000578091:exon3:c.121+1G>T;ENST00000579851:exon3:c.121+1G>T;ENST00000582645:exon3:c.121+1G>T;ENST00000399441:exon3:c.121+1G>T)	.	.	0.999985532734767	0.946
18	21957376	C	G	18	24377412	y	y	splicing	OSBPL1A(NM_080597:exon3:c.121+1G>C)	.	.	splicing	ENSG00000141447(ENST00000319481:exon3:c.121+1G>C;ENST00000578091:exon3:c.121+1G>C;ENST00000579851:exon3:c.121+1G>C;ENST00000582645:exon3:c.121+1G>C;ENST00000399441:exon3:c.121+1G>C)	.	.	0.999985532734767	0.946
18	21957376	C	T	18	24377412	y	y	splicing	OSBPL1A(NM_080597:exon3:c.121+1G>A)	.	.	splicing	ENSG00000141447(ENST00000319481:exon3:c.121+1G>A;ENST00000578091:exon3:c.121+1G>A;ENST00000579851:exon3:c.121+1G>A;ENST00000582645:exon3:c.121+1G>A;ENST00000399441:exon3:c.121+1G>A)	.	.	0.999985532734767	0.946
18	21957377	C	A	18	24377413	y	y	exonic	OSBPL1A	stopgain SNV	OSBPL1A:NM_080597:exon2:c.G121T:p.G41X;	exonic	ENSG00000141447	stopgain SNV	ENSG00000141447:ENST00000578091:exon2:c.G121T:p.G41X;ENSG00000141447:ENST00000579851:exon2:c.G121T:p.G41X;ENSG00000141447:ENST00000319481:exon2:c.G121T:p.G41X;ENSG00000141447:ENST00000399441:exon2:c.G121T:p.G41X;ENSG00000141447:ENST00000582645:exon2:c.G121T:p.G41X;	0.999992189492819	0.974
18	21957377	C	G	18	24377413	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon2:c.G121C:p.G41R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon2:c.G121C:p.G41R;ENSG00000141447:ENST00000579851:exon2:c.G121C:p.G41R;ENSG00000141447:ENST00000319481:exon2:c.G121C:p.G41R;ENSG00000141447:ENST00000399441:exon2:c.G121C:p.G41R;ENSG00000141447:ENST00000582645:exon2:c.G121C:p.G41R;	0.999991499086019	1.0
18	21957377	C	T	18	24377413	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon2:c.G121A:p.G41R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon2:c.G121A:p.G41R;ENSG00000141447:ENST00000579851:exon2:c.G121A:p.G41R;ENSG00000141447:ENST00000319481:exon2:c.G121A:p.G41R;ENSG00000141447:ENST00000399441:exon2:c.G121A:p.G41R;ENSG00000141447:ENST00000582645:exon2:c.G121A:p.G41R;	0.99998869549793	1.0
18	21957378	T	A	18	24377414	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon2:c.A120T:p.K40N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon2:c.A120T:p.K40N;ENSG00000141447:ENST00000579851:exon2:c.A120T:p.K40N;ENSG00000141447:ENST00000319481:exon2:c.A120T:p.K40N;ENSG00000141447:ENST00000399441:exon2:c.A120T:p.K40N;ENSG00000141447:ENST00000582645:exon2:c.A120T:p.K40N;	0.998927052036662	0.968
18	21957378	T	C	18	24377414	y	y	exonic	OSBPL1A	synonymous SNV	OSBPL1A:NM_080597:exon2:c.A120G:p.K40K;	exonic	ENSG00000141447	synonymous SNV	ENSG00000141447:ENST00000578091:exon2:c.A120G:p.K40K;ENSG00000141447:ENST00000579851:exon2:c.A120G:p.K40K;ENSG00000141447:ENST00000319481:exon2:c.A120G:p.K40K;ENSG00000141447:ENST00000399441:exon2:c.A120G:p.K40K;ENSG00000141447:ENST00000582645:exon2:c.A120G:p.K40K;	0.999166701975763	0.984
18	21957378	T	G	18	24377414	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon2:c.A120C:p.K40N;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon2:c.A120C:p.K40N;ENSG00000141447:ENST00000579851:exon2:c.A120C:p.K40N;ENSG00000141447:ENST00000319481:exon2:c.A120C:p.K40N;ENSG00000141447:ENST00000399441:exon2:c.A120C:p.K40N;ENSG00000141447:ENST00000582645:exon2:c.A120C:p.K40N;	0.972551162184032	0.736
18	21957379	T	A	18	24377415	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon2:c.A119T:p.K40I;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon2:c.A119T:p.K40I;ENSG00000141447:ENST00000579851:exon2:c.A119T:p.K40I;ENSG00000141447:ENST00000319481:exon2:c.A119T:p.K40I;ENSG00000141447:ENST00000399441:exon2:c.A119T:p.K40I;ENSG00000141447:ENST00000582645:exon2:c.A119T:p.K40I;	0.983316406140469	0.718
18	21957379	T	C	18	24377415	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon2:c.A119G:p.K40R;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon2:c.A119G:p.K40R;ENSG00000141447:ENST00000579851:exon2:c.A119G:p.K40R;ENSG00000141447:ENST00000319481:exon2:c.A119G:p.K40R;ENSG00000141447:ENST00000399441:exon2:c.A119G:p.K40R;ENSG00000141447:ENST00000582645:exon2:c.A119G:p.K40R;	0.028366990573623	0.216
18	21957379	T	G	18	24377415	y	y	exonic	OSBPL1A	nonsynonymous SNV	OSBPL1A:NM_080597:exon2:c.A119C:p.K40T;	exonic	ENSG00000141447	nonsynonymous SNV	ENSG00000141447:ENST00000578091:exon2:c.A119C:p.K40T;ENSG00000141447:ENST00000579851:exon2:c.A119C:p.K40T;ENSG00000141447:ENST00000319481:exon2:c.A119C:p.K40T;ENSG00000141447:ENST00000399441:exon2:c.A119C:p.K40T;ENSG00000141447:ENST00000582645:exon2:c.A119C:p.K40T;	0.00325776994180597	0.026
18	21957498	T	A	18	24377534	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.93821174770823E-4	0.004
18	21957498	T	C	18	24377534	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	2.7082978413123E-4	0.008
18	21957498	T	G	18	24377534	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.00193000918232502	0.026
18	21957499	T	A	18	24377535	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.0144497365361213	0.12
18	21957499	T	C	18	24377535	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	3.66692842859502E-4	0.002
18	21957499	T	G	18	24377535	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.00437022602131799	0.104
18	21957500	C	A	18	24377536	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999933757597683	0.948
18	21957500	C	G	18	24377536	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999933757597683	0.946
18	21957500	C	T	18	24377536	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.99993314117114	0.948
18	21957501	T	A	18	24377537	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999946188727699	0.94
18	21957501	T	C	18	24377537	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999964896440643	0.932
18	21957501	T	G	18	24377537	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999964896440643	0.932
18	21957502	A	C	18	24377538	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.988768583727984	0.686
18	21957502	A	G	18	24377538	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.29713197028374E-5	0.01
18	21957502	A	T	18	24377538	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0671730391783423	0.402
18	21957503	A	C	18	24377539	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.67267751149439E-4	0.042
18	21957503	A	G	18	24377539	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.28750940373854E-4	0.0
18	21957503	A	T	18	24377539	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.79560834391856E-5	0.042
18	21957504	A	C	18	24377540	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.999935881471887	0.932
18	21957504	A	G	18	24377540	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0131465726651492	0.086
18	21957504	A	T	18	24377540	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.326985417038388	0.43
18	21957505	T	A	18	24377541	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.53003779628126E-4	0.014
18	21957505	T	C	18	24377541	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.998810089746033	0.96
18	21957505	T	G	18	24377541	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.39030194418919E-4	0.008
18	21957506	T	A	18	24377542	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	3.32175978396979E-4	0.002
18	21957506	T	C	18	24377542	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.49219260656367E-4	0.0
18	21957506	T	G	18	24377542	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.89304756644226E-4	0.006
18	21957507	A	C	18	24377543	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0024723764063475	0.192
18	21957507	A	G	18	24377543	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	4.96425198539992E-5	0.0
18	21957507	A	T	18	24377543	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0108484651273065	0.15
18	21957508	A	C	18	24377544	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00751914591101598	0.19
18	21957508	A	G	18	24377544	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.23937505367262E-4	0.136
18	21957508	A	T	18	24377544	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00687340209924551	0.194
18	21957509	G	A	18	24377545	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	2.91158752230939E-5	0.002
18	21957509	G	C	18	24377545	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.00146578403675024	0.128
18	21957509	G	T	18	24377545	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	8.23163649490327E-4	0.038
18	21957510	A	C	18	24377546	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.456223680618671	0.464
18	21957510	A	G	18	24377546	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.02676230893239	0.234
18	21957510	A	T	18	24377546	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.65544551059494	0.52
18	21957511	A	C	18	24377547	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.0495612641722613	0.416
18	21957511	A	G	18	24377547	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.13784599788973E-4	0.028
18	21957511	A	T	18	24377547	y	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	0.200710500049093	0.5
18	21977529	G	A	18	24397565	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.02337758398172E-4	0.0
18	21977529	G	C	18	24397565	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.02337758398172E-4	0.0
18	21977529	G	T	18	24397565	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.02337758398172E-4	0.0
18	21977530	G	A	18	24397566	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.32903210917175E-4	0.012
18	21977530	G	C	18	24397566	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.38603341338827E-4	0.002
18	21977530	G	T	18	24397566	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	9.71088654042677E-5	0.008
18	21977531	A	C	18	24397567	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.04496257018506E-4	0.006
18	21977531	A	G	18	24397567	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.04496257018506E-4	0.006
18	21977531	A	T	18	24397567	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.3510010414419E-5	0.0
18	21977532	C	A	18	24397568	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	7.9293777404914E-5	0.002
18	21977532	C	G	18	24397568	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.47610205509752E-4	0.002
18	21977532	C	T	18	24397568	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.03419571978315E-4	0.002
18	21977533	A	C	18	24397569	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.19053194304606E-5	0.0
18	21977533	A	G	18	24397569	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	6.19053194304606E-5	0.0
18	21977533	A	T	18	24397569	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	5.63534827835342E-5	0.0
18	21977534	G	A	18	24397570	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.30819145506541E-4	0.022
18	21977534	G	C	18	24397570	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.91285012458584E-4	0.006
18	21977534	G	T	18	24397570	n	y	intronic	OSBPL1A	.	.	intronic	ENSG00000141447	.	.	1.91285012458584E-4	0.008
18	21977535	A	C	18	24397571	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.28787216154889E-4	0.002
18	21977535	A	G	18	24397571	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.28787216154889E-4	0.008
18	21977535	A	T	18	24397571	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.73760298884343E-4	0.0
18	21977536	C	A	18	24397572	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.61027860080817E-4	0.004
18	21977536	C	G	18	24397572	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.61027860080817E-4	0.086
18	21977536	C	T	18	24397572	n	y	intronic	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	1.61027860080817E-4	0.014
18	21977537	C	A	18	24397573	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.72130348865634E-4	0.006
18	21977537	C	G	18	24397573	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	1.89734469080795E-4	0.01
18	21977537	C	T	18	24397573	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	2.30091274166935E-4	0.006
18	21977538	T	A	18	24397574	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	3.95069546638981E-5	0.0
18	21977538	T	C	18	24397574	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	4.35480018914068E-5	0.0
18	21977538	T	G	18	24397574	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	4.35480018914068E-5	0.0
18	21977539	C	A	18	24397575	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	3.5032315332639E-4	0.016
18	21977539	C	G	18	24397575	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	3.54004682168068E-4	0.028
18	21977539	C	T	18	24397575	n	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	3.9171503065703E-4	0.016
18	21977611	A	C	18	24397647	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.767564643347498	0.704
18	21977611	A	G	18	24397647	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.534928276609445	0.448
18	21977611	A	T	18	24397647	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.767564643347498	0.684
18	21977612	A	C	18	24397648	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	3.95119905241337E-4	0.196
18	21977612	A	G	18	24397648	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	3.51700948441048E-4	0.188
18	21977612	A	T	18	24397648	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	4.56698690796524E-4	0.21
18	21977613	A	C	18	24397649	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.970011398376994	0.698
18	21977613	A	G	18	24397649	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.941668988989986	0.714
18	21977613	A	T	18	24397649	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.908768157782422	0.732
18	21977614	C	A	18	24397650	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.999979764126095	0.842
18	21977614	C	G	18	24397650	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.99999080070161	0.982
18	21977614	C	T	18	24397650	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.99998815539045	0.902
18	21977615	T	A	18	24397651	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.998778506842385	0.704
18	21977615	T	C	18	24397651	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.998528180071487	0.742
18	21977615	T	G	18	24397651	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.998167460635963	0.682
18	21977616	G	A	18	24397652	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.709806186403873	0.668
18	21977616	G	C	18	24397652	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.51821388881012	0.52
18	21977616	G	T	18	24397652	y	y	intronic	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.51821388881012	0.49
18	21977617	A	C	18	24397653	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999995027806847	0.936
18	21977617	A	G	18	24397653	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.991913786688374	0.618
18	21977617	A	T	18	24397653	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999995027806847	0.936
18	21977618	C	A	18	24397654	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999990764389106	0.94
18	21977618	C	G	18	24397654	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999990764389106	0.94
18	21977618	C	T	18	24397654	y	y	splicing	OSBPL1A	.	.	splicing	ENSG00000141447	.	.	0.999990764389106	0.94
18	21977619	C	A	18	24397655	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.999995647312151	1.0
18	21977619	C	G	18	24397655	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.999993753297035	1.0
18	21977619	C	T	18	24397655	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.999994371487004	0.994
18	21977620	T	A	18	24397656	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.999788253743029	0.984
18	21977620	T	C	18	24397656	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.999746822160634	0.998
18	21977620	T	G	18	24397656	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	0.999365120186765	0.948
18	21977621	A	C	18	24397657	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	2.19319280217058E-4	0.268
18	21977621	A	G	18	24397657	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	2.76261656489919E-4	0.326
18	21977621	A	T	18	24397657	y	y	UTR5	OSBPL1A	.	.	UTR5	ENSG00000141447	.	.	2.76261656489919E-4	0.33
18	22006705	C	A	18	24426741	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	8.76314105744779E-4	0.016
18	22006705	C	G	18	24426741	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	8.8551835119743E-4	0.004
18	22006705	C	T	18	24426741	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	8.76314105744779E-4	0.002
18	22006706	A	C	18	24426742	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	3.25165081315677E-5	0.0
18	22006706	A	G	18	24426742	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	3.25165081315677E-5	0.0
18	22006706	A	T	18	24426742	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	3.25165081315677E-5	0.002
18	22006707	G	A	18	24426743	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.32264830397874E-4	0.068
18	22006707	G	C	18	24426743	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.37937584880357E-4	0.026
18	22006707	G	T	18	24426743	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	7.409747275093E-5	0.028
18	22006708	G	A	18	24426744	n	y	UTR5	IMPACT	.	.	splicing	ENSG00000154059	.	.	3.01578748569253E-5	0.0
18	22006708	G	C	18	24426744	n	y	UTR5	IMPACT	.	.	splicing	ENSG00000154059	.	.	1.95241758590049E-5	0.0
18	22006708	G	T	18	24426744	n	y	UTR5	IMPACT	.	.	splicing	ENSG00000154059	.	.	3.01578748569253E-5	0.0
18	22006709	T	A	18	24426745	n	y	UTR5	IMPACT	.	.	splicing	ENSG00000154059	.	.	7.44551275265223E-5	0.002
18	22006709	T	C	18	24426745	n	y	UTR5	IMPACT	.	.	splicing	ENSG00000154059	.	.	1.03839229791523E-4	0.006
18	22006709	T	G	18	24426745	n	y	UTR5	IMPACT	.	.	splicing	ENSG00000154059	.	.	1.03839229791523E-4	0.006
18	22006710	C	A	18	24426746	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.19087666414529E-4	0.01
18	22006710	C	G	18	24426746	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.30819145506541E-4	0.002
18	22006710	C	T	18	24426746	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.19087666414529E-4	0.0
18	22006711	C	A	18	24426747	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	9.52947485197489E-5	0.0
18	22006711	C	G	18	24426747	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.2331471065878E-4	0.0
18	22006711	C	T	18	24426747	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.20200958252478E-4	0.0
18	22006712	A	C	18	24426748	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	6.41482094144569E-5	0.0
18	22006712	A	G	18	24426748	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	6.41482094144569E-5	0.0
18	22006712	A	T	18	24426748	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	7.46422333643515E-5	0.008
18	22006713	G	A	18	24426749	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.01160173408201E-4	0.022
18	22006713	G	C	18	24426749	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.32958553153901E-4	0.018
18	22006713	G	T	18	24426749	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.32958553153901E-4	0.018
18	22006714	G	A	18	24426750	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	2.05368753306158E-4	0.01
18	22006714	G	C	18	24426750	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.45088439634131E-4	0.0
18	22006714	G	T	18	24426750	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.45088439634131E-4	0.002
18	22006715	G	A	18	24426751	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.65315221849936E-4	0.106
18	22006715	G	C	18	24426751	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	8.08580257219391E-5	0.108
18	22006715	G	T	18	24426751	n	y	UTR5	IMPACT	.	.	UTR5	ENSG00000154059	.	.	1.37618684882335E-4	0.114
18	22006754	C	A	18	24426790	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon1:c.C34A:p.Q12K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon1:c.C34A:p.Q12K;ENSG00000154059:ENST00000284202:exon1:c.C34A:p.Q12K;	0.899034919885491	0.63
18	22006754	C	G	18	24426790	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon1:c.C34G:p.Q12E;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon1:c.C34G:p.Q12E;ENSG00000154059:ENST00000284202:exon1:c.C34G:p.Q12E;	0.744090646789347	0.566
18	22006754	C	T	18	24426790	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon1:c.C34T:p.Q12X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000578221:exon1:c.C34T:p.Q12X;ENSG00000154059:ENST00000284202:exon1:c.C34T:p.Q12X;	0.998424652030522	0.888
18	22006755	A	C	18	24426791	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon1:c.A35C:p.Q12P;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon1:c.A35C:p.Q12P;ENSG00000154059:ENST00000284202:exon1:c.A35C:p.Q12P;	0.992111938170862	0.908
18	22006755	A	G	18	24426791	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon1:c.A35G:p.Q12R;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon1:c.A35G:p.Q12R;ENSG00000154059:ENST00000284202:exon1:c.A35G:p.Q12R;	0.994544665817237	0.956
18	22006755	A	T	18	24426791	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon1:c.A35T:p.Q12L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon1:c.A35T:p.Q12L;ENSG00000154059:ENST00000284202:exon1:c.A35T:p.Q12L;	0.997573423784163	0.972
18	22006756	G	A	18	24426792	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon1:c.G36A:p.Q12Q;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon1:c.G36A:p.Q12Q;ENSG00000154059:ENST00000284202:exon1:c.G36A:p.Q12Q;	0.999834807883842	0.968
18	22006756	G	C	18	24426792	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon1:c.G36C:p.Q12H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon1:c.G36C:p.Q12H;ENSG00000154059:ENST00000284202:exon1:c.G36C:p.Q12H;	0.999964059156043	0.998
18	22006756	G	T	18	24426792	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon1:c.G36T:p.Q12H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon1:c.G36T:p.Q12H;ENSG00000154059:ENST00000284202:exon1:c.G36T:p.Q12H;	0.999264926666704	0.962
18	22006757	G	A	18	24426793	y	y	splicing	IMPACT(NM_018439:exon1:c.36+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon1:c.36+1G>A;ENST00000578221:exon1:c.36+1G>A)	.	.	0.999981760802075	0.94
18	22006757	G	C	18	24426793	y	y	splicing	IMPACT(NM_018439:exon1:c.36+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon1:c.36+1G>C;ENST00000578221:exon1:c.36+1G>C)	.	.	0.999981760802075	0.94
18	22006757	G	T	18	24426793	y	y	splicing	IMPACT(NM_018439:exon1:c.36+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon1:c.36+1G>T;ENST00000578221:exon1:c.36+1G>T)	.	.	0.999981760802075	0.94
18	22006758	T	A	18	24426794	y	y	splicing	IMPACT(NM_018439:exon1:c.36+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon1:c.36+2T>A;ENST00000578221:exon1:c.36+2T>A)	.	.	0.999989917668626	0.928
18	22006758	T	C	18	24426794	y	y	splicing	IMPACT(NM_018439:exon1:c.36+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon1:c.36+2T>C;ENST00000578221:exon1:c.36+2T>C)	.	.	0.999939711763648	0.864
18	22006758	T	G	18	24426794	y	y	splicing	IMPACT(NM_018439:exon1:c.36+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon1:c.36+2T>G;ENST00000578221:exon1:c.36+2T>G)	.	.	0.999989917668626	0.928
18	22006759	G	A	18	24426795	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0106532040248708	0.144
18	22006759	G	C	18	24426795	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.960075846243572	0.872
18	22006759	G	T	18	24426795	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.98830449450839	0.88
18	22006760	A	C	18	24426796	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998599433363204	0.866
18	22006760	A	G	18	24426796	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999692875951336	0.944
18	22006760	A	T	18	24426796	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999718212918672	0.9
18	22006761	G	A	18	24426797	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998946475586984	0.826
18	22006761	G	C	18	24426797	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.995109722805937	0.79
18	22006761	G	T	18	24426797	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999369997371121	0.824
18	22006762	G	A	18	24426798	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.922321279082475	0.674
18	22006762	G	C	18	24426798	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.904239179607709	0.764
18	22006762	G	T	18	24426798	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.770470113455831	0.524
18	22006763	C	A	18	24426799	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.54814705968022E-4	0.028
18	22006763	C	G	18	24426799	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.67220332836296E-5	0.006
18	22006763	C	T	18	24426799	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.2816407020409E-4	0.136
18	22006764	C	A	18	24426800	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.959421660050236	0.69
18	22006764	C	G	18	24426800	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.84763115942826	0.698
18	22006764	C	T	18	24426800	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.986521685666006	0.704
18	22007871	A	C	18	24427907	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.13812569705397E-5	0.0
18	22007871	A	G	18	24427907	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.07193556173579E-5	0.018
18	22007871	A	T	18	24427907	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.78778313796105E-5	0.0
18	22007872	A	C	18	24427908	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.32977227249622E-5	0.0
18	22007872	A	G	18	24427908	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.927720441843982	0.926
18	22007872	A	T	18	24427908	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.7859530241908E-5	0.098
18	22007873	T	A	18	24427909	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.212612045860568	0.33
18	22007873	T	C	18	24427909	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.71301150768153E-4	0.022
18	22007873	T	G	18	24427909	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999876544005694	0.908
18	22007874	T	A	18	24427910	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0108674295526561	0.25
18	22007874	T	C	18	24427910	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.37923070416874E-4	0.034
18	22007874	T	G	18	24427910	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0274269133724714	0.224
18	22007875	T	A	18	24427911	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0320519519846739	0.206
18	22007875	T	C	18	24427911	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.12801037413927E-5	0.012
18	22007875	T	G	18	24427911	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0118916998709893	0.218
18	22007876	C	A	18	24427912	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00230874025424656	0.12
18	22007876	C	G	18	24427912	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00344250668737203	0.16
18	22007876	C	T	18	24427912	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.13851427254967E-5	0.0
18	22007877	T	A	18	24427913	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.872415093350788	0.658
18	22007877	T	C	18	24427913	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.08919132179629E-4	0.016
18	22007877	T	G	18	24427913	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.955754843670352	0.676
18	22007878	T	A	18	24427914	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.918923462402511	0.592
18	22007878	T	C	18	24427914	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0329543931460166	0.17
18	22007878	T	G	18	24427914	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.971779874779372	0.592
18	22007879	T	A	18	24427915	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.25479829572324E-5	0.0
18	22007879	T	C	18	24427915	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.52060868872325E-4	0.014
18	22007879	T	G	18	24427915	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.22863567115877E-4	0.04
18	22007880	C	A	18	24427916	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.922471297394781	0.704
18	22007880	C	G	18	24427916	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999457247545142	0.762
18	22007880	C	T	18	24427916	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00395030323061642	0.03
18	22007881	A	C	18	24427917	y	y	splicing	IMPACT(NM_018439:exon2:c.37-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.37-2A>C;ENST00000578221:exon2:c.37-2A>C)	.	.	0.999960616901561	0.928
18	22007881	A	G	18	24427917	y	y	splicing	IMPACT(NM_018439:exon2:c.37-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.37-2A>G;ENST00000578221:exon2:c.37-2A>G)	.	.	0.999960616901561	0.928
18	22007881	A	T	18	24427917	y	y	splicing	IMPACT(NM_018439:exon2:c.37-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.37-2A>T;ENST00000578221:exon2:c.37-2A>T)	.	.	0.999960616901561	0.926
18	22007882	G	A	18	24427918	y	y	splicing	IMPACT(NM_018439:exon2:c.37-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.37-1G>A;ENST00000578221:exon2:c.37-1G>A)	.	.	0.999986741007567	0.914
18	22007882	G	C	18	24427918	y	y	splicing	IMPACT(NM_018439:exon2:c.37-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.37-1G>C;ENST00000578221:exon2:c.37-1G>C)	.	.	0.999976254090479	0.91
18	22007882	G	T	18	24427918	y	y	splicing	IMPACT(NM_018439:exon2:c.37-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.37-1G>T;ENST00000578221:exon2:c.37-1G>T)	.	.	0.999981537975149	0.912
18	22007883	A	C	18	24427919	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A37C:p.N13H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A37C:p.N13H;ENSG00000154059:ENST00000284202:exon2:c.A37C:p.N13H;	0.0531442059321802	0.25
18	22007883	A	G	18	24427919	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A37G:p.N13D;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A37G:p.N13D;ENSG00000154059:ENST00000284202:exon2:c.A37G:p.N13D;	0.00134649724669292	0.032
18	22007883	A	T	18	24427919	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A37T:p.N13Y;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A37T:p.N13Y;ENSG00000154059:ENST00000284202:exon2:c.A37T:p.N13Y;	0.0518768708461975	0.236
18	22007884	A	C	18	24427920	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A38C:p.N13T;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A38C:p.N13T;ENSG00000154059:ENST00000284202:exon2:c.A38C:p.N13T;	0.00590274411885566	0.042
18	22007884	A	G	18	24427920	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A38G:p.N13S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A38G:p.N13S;ENSG00000154059:ENST00000284202:exon2:c.A38G:p.N13S;	0.0050705166443893	0.03
18	22007884	A	T	18	24427920	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A38T:p.N13I;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A38T:p.N13I;ENSG00000154059:ENST00000284202:exon2:c.A38T:p.N13I;	0.00119769595346875	0.054
18	22008009	C	A	18	24428045	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.C163A:p.Q55K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.C163A:p.Q55K;ENSG00000154059:ENST00000284202:exon2:c.C163A:p.Q55K;ENSG00000154059:ENST00000585067:exon2:c.C109A:p.Q37K;	0.403266169071685	0.418
18	22008009	C	G	18	24428045	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.C163G:p.Q55E;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.C163G:p.Q55E;ENSG00000154059:ENST00000284202:exon2:c.C163G:p.Q55E;ENSG00000154059:ENST00000585067:exon2:c.C109G:p.Q37E;	0.0331969545302926	0.244
18	22008009	C	T	18	24428045	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon2:c.C163T:p.Q55X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000578221:exon2:c.C163T:p.Q55X;ENSG00000154059:ENST00000284202:exon2:c.C163T:p.Q55X;ENSG00000154059:ENST00000585067:exon2:c.C109T:p.Q37X;	0.999365443702446	0.952
18	22008010	A	C	18	24428046	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A164C:p.Q55P;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A164C:p.Q55P;ENSG00000154059:ENST00000284202:exon2:c.A164C:p.Q55P;ENSG00000154059:ENST00000585067:exon2:c.A110C:p.Q37P;	0.996219964774339	0.86
18	22008010	A	G	18	24428046	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A164G:p.Q55R;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A164G:p.Q55R;ENSG00000154059:ENST00000284202:exon2:c.A164G:p.Q55R;ENSG00000154059:ENST00000585067:exon2:c.A110G:p.Q37R;	0.99881013170445	0.956
18	22008010	A	T	18	24428046	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.A164T:p.Q55L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.A164T:p.Q55L;ENSG00000154059:ENST00000284202:exon2:c.A164T:p.Q55L;ENSG00000154059:ENST00000585067:exon2:c.A110T:p.Q37L;	0.999168211742362	0.974
18	22008011	G	A	18	24428047	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon2:c.G165A:p.Q55Q;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.G165A:p.Q55Q;ENSG00000154059:ENST00000284202:exon2:c.G165A:p.Q55Q;ENSG00000154059:ENST00000585067:exon2:c.G111A:p.Q37Q;	0.999949300558553	0.994
18	22008011	G	C	18	24428047	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.G165C:p.Q55H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.G165C:p.Q55H;ENSG00000154059:ENST00000284202:exon2:c.G165C:p.Q55H;ENSG00000154059:ENST00000585067:exon2:c.G111C:p.Q37H;	0.999950322102531	0.984
18	22008011	G	T	18	24428047	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon2:c.G165T:p.Q55H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon2:c.G165T:p.Q55H;ENSG00000154059:ENST00000284202:exon2:c.G165T:p.Q55H;ENSG00000154059:ENST00000585067:exon2:c.G111T:p.Q37H;	0.999951527213175	0.978
18	22008012	G	A	18	24428048	y	y	splicing	IMPACT(NM_018439:exon2:c.165+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.165+1G>A;ENST00000585067:exon2:c.111+1G>A;ENST00000578221:exon2:c.165+1G>A)	.	.	0.999988247793601	0.922
18	22008012	G	C	18	24428048	y	y	splicing	IMPACT(NM_018439:exon2:c.165+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.165+1G>C;ENST00000585067:exon2:c.111+1G>C;ENST00000578221:exon2:c.165+1G>C)	.	.	0.999988247793601	0.922
18	22008012	G	T	18	24428048	y	y	splicing	IMPACT(NM_018439:exon2:c.165+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.165+1G>T;ENST00000585067:exon2:c.111+1G>T;ENST00000578221:exon2:c.165+1G>T)	.	.	0.999988247793601	0.922
18	22008013	T	A	18	24428049	y	y	splicing	IMPACT(NM_018439:exon2:c.165+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.165+2T>A;ENST00000585067:exon2:c.111+2T>A;ENST00000578221:exon2:c.165+2T>A)	.	.	0.999992446697775	0.928
18	22008013	T	C	18	24428049	y	y	splicing	IMPACT(NM_018439:exon2:c.165+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.165+2T>C;ENST00000585067:exon2:c.111+2T>C;ENST00000578221:exon2:c.165+2T>C)	.	.	0.988883133751273	0.58
18	22008013	T	G	18	24428049	y	y	splicing	IMPACT(NM_018439:exon2:c.165+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon2:c.165+2T>G;ENST00000585067:exon2:c.111+2T>G;ENST00000578221:exon2:c.165+2T>G)	.	.	0.999992446697775	0.928
18	22008014	A	C	18	24428050	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999895638409079	0.976
18	22008014	A	G	18	24428050	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998761235345297	0.952
18	22008014	A	T	18	24428050	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998984808010906	0.934
18	22008015	C	A	18	24428051	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.67287688141478E-5	0.094
18	22008015	C	G	18	24428051	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0011099140046851	0.042
18	22008015	C	T	18	24428051	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.6054850423027E-4	0.06
18	22008016	T	A	18	24428052	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00920523723452213	0.042
18	22008016	T	C	18	24428052	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0143477138391642	0.094
18	22008016	T	G	18	24428052	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0068718527856074	0.06
18	22008017	T	A	18	24428053	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0013765132375158	0.122
18	22008017	T	C	18	24428053	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0061990503330008	0.208
18	22008017	T	G	18	24428053	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.22845429148299E-4	0.152
18	22008018	T	A	18	24428054	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00728305248173296	0.042
18	22008018	T	C	18	24428054	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00936092461419213	0.048
18	22008018	T	G	18	24428054	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00728305248173296	0.044
18	22008019	T	A	18	24428055	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.32089386388225E-4	0.0
18	22008019	T	C	18	24428055	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.98268194239126E-4	0.0
18	22008019	T	G	18	24428055	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.18910121014594E-4	0.0
18	22008821	C	A	18	24428857	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0612133430423595	0.31
18	22008821	C	G	18	24428857	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999952269107928	0.98
18	22008821	C	T	18	24428857	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.91742519766005E-4	0.012
18	22008822	C	A	18	24428858	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.8739814702977E-4	0.038
18	22008822	C	G	18	24428858	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.39534020826293E-4	0.046
18	22008822	C	T	18	24428858	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.42777938211792E-5	0.0
18	22008823	T	A	18	24428859	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999838513796434	0.956
18	22008823	T	C	18	24428859	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.81495216056608E-5	0.078
18	22008823	T	G	18	24428859	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.341264826210674	0.516
18	22008824	G	A	18	24428860	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.68580453677573E-4	0.016
18	22008824	G	C	18	24428860	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.19396041816983E-4	0.0
18	22008824	G	T	18	24428860	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.19396041816983E-4	0.058
18	22008825	C	A	18	24428861	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00181254057785242	0.172
18	22008825	C	G	18	24428861	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0138478278293375	0.158
18	22008825	C	T	18	24428861	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.16379769823997E-5	0.0
18	22008826	A	C	18	24428862	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.06481237244302E-5	0.002
18	22008826	A	G	18	24428862	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.26501254653793E-5	0.002
18	22008826	A	T	18	24428862	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.68879409084043E-5	0.004
18	22008827	T	A	18	24428863	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.153048435343681	0.512
18	22008827	T	C	18	24428863	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.58614085576491E-4	0.014
18	22008827	T	G	18	24428863	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99988023130802	0.968
18	22008828	T	A	18	24428864	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999306297454605	0.962
18	22008828	T	C	18	24428864	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0136333889261162	0.24
18	22008828	T	G	18	24428864	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.190364430461497	0.438
18	22008829	G	A	18	24428865	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.00668242853528E-5	0.0
18	22008829	G	C	18	24428865	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.89505820929157E-5	0.0
18	22008829	G	T	18	24428865	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.87279937226655E-5	0.0
18	22008830	T	A	18	24428866	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00655853438919897	0.398
18	22008830	T	C	18	24428866	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.33947829205008E-4	0.078
18	22008830	T	G	18	24428866	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.993022278721751	0.68
18	22008831	A	C	18	24428867	y	y	splicing	IMPACT(NM_018439:exon3:c.166-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.166-2A>C;ENST00000585067:exon3:c.112-2A>C;ENST00000578221:exon3:c.166-2A>C)	.	.	0.999986903042585	0.94
18	22008831	A	G	18	24428867	y	y	splicing	IMPACT(NM_018439:exon3:c.166-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.166-2A>G;ENST00000585067:exon3:c.112-2A>G;ENST00000578221:exon3:c.166-2A>G)	.	.	0.999986903042585	0.938
18	22008831	A	T	18	24428867	y	y	splicing	IMPACT(NM_018439:exon3:c.166-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.166-2A>T;ENST00000585067:exon3:c.112-2A>T;ENST00000578221:exon3:c.166-2A>T)	.	.	0.999989917668626	0.94
18	22008832	G	A	18	24428868	y	y	splicing	IMPACT(NM_018439:exon3:c.166-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.166-1G>A;ENST00000585067:exon3:c.112-1G>A;ENST00000578221:exon3:c.166-1G>A)	.	.	0.999986675681007	0.954
18	22008832	G	C	18	24428868	y	y	splicing	IMPACT(NM_018439:exon3:c.166-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.166-1G>C;ENST00000585067:exon3:c.112-1G>C;ENST00000578221:exon3:c.166-1G>C)	.	.	0.999981447013919	0.952
18	22008832	G	T	18	24428868	y	y	splicing	IMPACT(NM_018439:exon3:c.166-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.166-1G>T;ENST00000585067:exon3:c.112-1G>T;ENST00000578221:exon3:c.166-1G>T)	.	.	0.999986675681007	0.954
18	22008833	G	A	18	24428869	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.G166A:p.V56M;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.G166A:p.V56M;ENSG00000154059:ENST00000284202:exon3:c.G166A:p.V56M;ENSG00000154059:ENST00000585067:exon3:c.G112A:p.V38M;	0.908928933432828	0.628
18	22008833	G	C	18	24428869	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.G166C:p.V56L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.G166C:p.V56L;ENSG00000154059:ENST00000284202:exon3:c.G166C:p.V56L;ENSG00000154059:ENST00000585067:exon3:c.G112C:p.V38L;	0.985189847201432	0.736
18	22008833	G	T	18	24428869	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.G166T:p.V56L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.G166T:p.V56L;ENSG00000154059:ENST00000284202:exon3:c.G166T:p.V56L;ENSG00000154059:ENST00000585067:exon3:c.G112T:p.V38L;	0.999561978209008	0.796
18	22008834	T	A	18	24428870	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.T167A:p.V56E;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.T167A:p.V56E;ENSG00000154059:ENST00000284202:exon3:c.T167A:p.V56E;ENSG00000154059:ENST00000585067:exon3:c.T113A:p.V38E;	0.0103028460238376	0.188
18	22008834	T	C	18	24428870	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.T167C:p.V56A;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.T167C:p.V56A;ENSG00000154059:ENST00000284202:exon3:c.T167C:p.V56A;ENSG00000154059:ENST00000585067:exon3:c.T113C:p.V38A;	0.0153342901076908	0.168
18	22008834	T	G	18	24428870	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.T167G:p.V56G;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.T167G:p.V56G;ENSG00000154059:ENST00000284202:exon3:c.T167G:p.V56G;ENSG00000154059:ENST00000585067:exon3:c.T113G:p.V38G;	0.0593562111846291	0.22
18	22008883	G	A	18	24428919	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon3:c.G216A:p.L72L;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.G216A:p.L72L;ENSG00000154059:ENST00000284202:exon3:c.G216A:p.L72L;ENSG00000154059:ENST00000585067:exon3:c.G162A:p.L54L;	1.28462947281409E-4	0.0
18	22008883	G	C	18	24428919	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.G216C:p.L72F;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.G216C:p.L72F;ENSG00000154059:ENST00000284202:exon3:c.G216C:p.L72F;ENSG00000154059:ENST00000585067:exon3:c.G162C:p.L54F;	7.53106312796231E-5	0.024
18	22008883	G	T	18	24428919	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.G216T:p.L72F;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.G216T:p.L72F;ENSG00000154059:ENST00000284202:exon3:c.G216T:p.L72F;ENSG00000154059:ENST00000585067:exon3:c.G162T:p.L54F;	0.0197989397811914	0.086
18	22008884	A	C	18	24428920	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.A217C:p.N73H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.A217C:p.N73H;ENSG00000154059:ENST00000284202:exon3:c.A217C:p.N73H;ENSG00000154059:ENST00000585067:exon3:c.A163C:p.N55H;	0.994804630322099	0.912
18	22008884	A	G	18	24428920	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.A217G:p.N73D;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.A217G:p.N73D;ENSG00000154059:ENST00000284202:exon3:c.A217G:p.N73D;ENSG00000154059:ENST00000585067:exon3:c.A163G:p.N55D;	0.99853356674414	0.966
18	22008884	A	T	18	24428920	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.A217T:p.N73Y;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.A217T:p.N73Y;ENSG00000154059:ENST00000284202:exon3:c.A217T:p.N73Y;ENSG00000154059:ENST00000585067:exon3:c.A163T:p.N55Y;	0.998588857069122	0.962
18	22008885	A	C	18	24428921	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.A218C:p.N73T;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.A218C:p.N73T;ENSG00000154059:ENST00000284202:exon3:c.A218C:p.N73T;ENSG00000154059:ENST00000585067:exon3:c.A164C:p.N55T;	0.0154330832158464	0.184
18	22008885	A	G	18	24428921	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.A218G:p.N73S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.A218G:p.N73S;ENSG00000154059:ENST00000284202:exon3:c.A218G:p.N73S;ENSG00000154059:ENST00000585067:exon3:c.A164G:p.N55S;	0.00183574386699225	0.102
18	22008885	A	T	18	24428921	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon3:c.A218T:p.N73I;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon3:c.A218T:p.N73I;ENSG00000154059:ENST00000284202:exon3:c.A218T:p.N73I;ENSG00000154059:ENST00000585067:exon3:c.A164T:p.N55I;	0.0228301813932223	0.244
18	22008886	G	A	18	24428922	y	y	splicing	IMPACT(NM_018439:exon3:c.218+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.218+1G>A;ENST00000585067:exon3:c.164+1G>A;ENST00000578221:exon3:c.218+1G>A)	.	.	0.999986675681007	0.938
18	22008886	G	C	18	24428922	y	y	splicing	IMPACT(NM_018439:exon3:c.218+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.218+1G>C;ENST00000585067:exon3:c.164+1G>C;ENST00000578221:exon3:c.218+1G>C)	.	.	0.999986675681007	0.938
18	22008886	G	T	18	24428922	y	y	splicing	IMPACT(NM_018439:exon3:c.218+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.218+1G>T;ENST00000585067:exon3:c.164+1G>T;ENST00000578221:exon3:c.218+1G>T)	.	.	0.999986675681007	0.938
18	22008887	T	A	18	24428923	y	y	splicing	IMPACT(NM_018439:exon3:c.218+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.218+2T>A;ENST00000585067:exon3:c.164+2T>A;ENST00000578221:exon3:c.218+2T>A)	.	.	0.999989917668626	0.926
18	22008887	T	C	18	24428923	y	y	splicing	IMPACT(NM_018439:exon3:c.218+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.218+2T>C;ENST00000585067:exon3:c.164+2T>C;ENST00000578221:exon3:c.218+2T>C)	.	.	0.986528855787127	0.598
18	22008887	T	G	18	24428923	y	y	splicing	IMPACT(NM_018439:exon3:c.218+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon3:c.218+2T>G;ENST00000585067:exon3:c.164+2T>G;ENST00000578221:exon3:c.218+2T>G)	.	.	0.999989917668626	0.926
18	22008888	A	C	18	24428924	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999841819563559	0.946
18	22008888	A	G	18	24428924	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.969395043500528	0.682
18	22008888	A	T	18	24428924	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999820772566401	0.958
18	22008889	A	C	18	24428925	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99518891730758	0.876
18	22008889	A	G	18	24428925	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.993417003632092	0.954
18	22008889	A	T	18	24428925	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.997404068651586	0.932
18	22008890	G	A	18	24428926	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999967018685523	0.992
18	22008890	G	C	18	24428926	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999982925224015	0.972
18	22008890	G	T	18	24428926	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999968833967818	0.998
18	22008891	C	A	18	24428927	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.2075604806475E-4	0.108
18	22008891	C	G	18	24428927	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.9308903767585E-4	0.076
18	22008891	C	T	18	24428927	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.16686879955802E-4	0.014
18	22008892	T	A	18	24428928	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.13341836097428E-4	0.008
18	22008892	T	C	18	24428928	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.84779987422885E-4	0.006
18	22008892	T	G	18	24428928	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.84779987422885E-4	0.008
18	22008893	G	A	18	24428929	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.78999810484078E-5	0.0
18	22008893	G	C	18	24428929	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.81474896170976E-5	0.0
18	22008893	G	T	18	24428929	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.36281238070456E-5	0.002
18	22010274	A	C	18	24430310	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.7470537267055E-5	0.142
18	22010274	A	G	18	24430310	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.80403991410206E-5	0.092
18	22010274	A	T	18	24430310	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.7470537267055E-5	0.152
18	22010275	T	A	18	24430311	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999708950420227	0.94
18	22010275	T	C	18	24430311	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.994662335459937	0.648
18	22010275	T	G	18	24430311	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999983393496843	0.982
18	22010276	T	A	18	24430312	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999764322655831	0.918
18	22010276	T	C	18	24430312	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.688069286242318	0.45
18	22010276	T	G	18	24430312	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999760774563048	0.928
18	22010277	T	A	18	24430313	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.976493576441002	0.678
18	22010277	T	C	18	24430313	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0111125495658927	0.158
18	22010277	T	G	18	24430313	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.973058671214901	0.72
18	22010278	A	C	18	24430314	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.91635765426405E-5	0.002
18	22010278	A	G	18	24430314	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.47574178442259E-4	0.004
18	22010278	A	T	18	24430314	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.91635765426405E-5	0.012
18	22010279	A	C	18	24430315	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.58824176059029E-4	0.0
18	22010279	A	G	18	24430315	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999189677030954	0.946
18	22010279	A	T	18	24430315	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.19844412542882E-4	0.022
18	22010280	T	A	18	24430316	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.947301261078339	0.682
18	22010280	T	C	18	24430316	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00157804109703927	0.066
18	22010280	T	G	18	24430316	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999950667126006	0.978
18	22010281	C	A	18	24430317	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00504647130186335	0.096
18	22010281	C	G	18	24430317	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0109970875786364	0.136
18	22010281	C	T	18	24430317	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.62111685949162E-4	0.0
18	22010282	T	A	18	24430318	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00179096358716305	0.046
18	22010282	T	C	18	24430318	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.19843790716784E-4	0.062
18	22010282	T	G	18	24430318	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00281146953895158	0.066
18	22010283	T	A	18	24430319	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.252488862772806	0.436
18	22010283	T	C	18	24430319	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.52253902613694E-5	0.004
18	22010283	T	G	18	24430319	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.982828047293017	0.71
18	22010284	A	C	18	24430320	y	y	splicing	IMPACT(NM_018439:exon4:c.219-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.219-2A>C;ENST00000585067:exon4:c.165-2A>C;ENST00000578221:exon4:c.219-2A>C)	.	.	0.999988247793601	0.948
18	22010284	A	G	18	24430320	y	y	splicing	IMPACT(NM_018439:exon4:c.219-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.219-2A>G;ENST00000585067:exon4:c.165-2A>G;ENST00000578221:exon4:c.219-2A>G)	.	.	0.999988247793601	0.948
18	22010284	A	T	18	24430320	y	y	splicing	IMPACT(NM_018439:exon4:c.219-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.219-2A>T;ENST00000585067:exon4:c.165-2A>T;ENST00000578221:exon4:c.219-2A>T)	.	.	0.999988247793601	0.948
18	22010285	G	A	18	24430321	y	y	splicing	IMPACT(NM_018439:exon4:c.219-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.219-1G>A;ENST00000585067:exon4:c.165-1G>A;ENST00000578221:exon4:c.219-1G>A)	.	.	0.999985532734767	0.946
18	22010285	G	C	18	24430321	y	y	splicing	IMPACT(NM_018439:exon4:c.219-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.219-1G>C;ENST00000585067:exon4:c.165-1G>C;ENST00000578221:exon4:c.219-1G>C)	.	.	0.999985532734767	0.946
18	22010285	G	T	18	24430321	y	y	splicing	IMPACT(NM_018439:exon4:c.219-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.219-1G>T;ENST00000585067:exon4:c.165-1G>T;ENST00000578221:exon4:c.219-1G>T)	.	.	0.999985532734767	0.946
18	22010286	T	A	18	24430322	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.T219A:p.N73K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.T219A:p.N73K;ENSG00000154059:ENST00000284202:exon4:c.T219A:p.N73K;ENSG00000154059:ENST00000585067:exon4:c.T165A:p.N55K;	2.55040485944777E-5	0.0
18	22010286	T	C	18	24430322	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon4:c.T219C:p.N73N;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.T219C:p.N73N;ENSG00000154059:ENST00000284202:exon4:c.T219C:p.N73N;ENSG00000154059:ENST00000585067:exon4:c.T165C:p.N55N;	1.20392598141664E-4	0.03
18	22010286	T	G	18	24430322	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.T219G:p.N73K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.T219G:p.N73K;ENSG00000154059:ENST00000284202:exon4:c.T219G:p.N73K;ENSG00000154059:ENST00000585067:exon4:c.T165G:p.N55K;	1.75049792442221E-4	0.048
18	22010287	G	A	18	24430323	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.G220A:p.A74T;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.G220A:p.A74T;ENSG00000154059:ENST00000284202:exon4:c.G220A:p.A74T;ENSG00000154059:ENST00000585067:exon4:c.G166A:p.A56T;	0.951630006648111	0.69
18	22010287	G	C	18	24430323	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.G220C:p.A74P;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.G220C:p.A74P;ENSG00000154059:ENST00000284202:exon4:c.G220C:p.A74P;ENSG00000154059:ENST00000585067:exon4:c.G166C:p.A56P;	0.85689878307515	0.616
18	22010287	G	T	18	24430323	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.G220T:p.A74S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.G220T:p.A74S;ENSG00000154059:ENST00000284202:exon4:c.G220T:p.A74S;ENSG00000154059:ENST00000585067:exon4:c.G166T:p.A56S;	0.837064281153181	0.566
18	22010346	T	A	18	24430382	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon4:c.T279A:p.Y93X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000578221:exon4:c.T279A:p.Y93X;ENSG00000154059:ENST00000284202:exon4:c.T279A:p.Y93X;ENSG00000154059:ENST00000585067:exon4:c.T225A:p.Y75X;	0.00132352026736255	0.386
18	22010346	T	C	18	24430382	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon4:c.T279C:p.Y93Y;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.T279C:p.Y93Y;ENSG00000154059:ENST00000284202:exon4:c.T279C:p.Y93Y;ENSG00000154059:ENST00000585067:exon4:c.T225C:p.Y75Y;	1.45506784019506E-4	0.0
18	22010346	T	G	18	24430382	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon4:c.T279G:p.Y93X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000578221:exon4:c.T279G:p.Y93X;ENSG00000154059:ENST00000284202:exon4:c.T279G:p.Y93X;ENSG00000154059:ENST00000585067:exon4:c.T225G:p.Y75X;	0.00158386392746594	0.346
18	22010347	A	C	18	24430383	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.A280C:p.I94L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.A280C:p.I94L;ENSG00000154059:ENST00000284202:exon4:c.A280C:p.I94L;ENSG00000154059:ENST00000585067:exon4:c.A226C:p.I76L;	0.123619479277586	0.524
18	22010347	A	G	18	24430383	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.A280G:p.I94V;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.A280G:p.I94V;ENSG00000154059:ENST00000284202:exon4:c.A280G:p.I94V;ENSG00000154059:ENST00000585067:exon4:c.A226G:p.I76V;	0.140234842657498	0.296
18	22010347	A	T	18	24430383	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.A280T:p.I94F;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.A280T:p.I94F;ENSG00000154059:ENST00000284202:exon4:c.A280T:p.I94F;ENSG00000154059:ENST00000585067:exon4:c.A226T:p.I76F;	0.0941222398008356	0.48
18	22010348	T	A	18	24430384	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.T281A:p.I94N;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.T281A:p.I94N;ENSG00000154059:ENST00000284202:exon4:c.T281A:p.I94N;ENSG00000154059:ENST00000585067:exon4:c.T227A:p.I76N;	0.0104975598711611	0.126
18	22010348	T	C	18	24430384	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.T281C:p.I94T;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.T281C:p.I94T;ENSG00000154059:ENST00000284202:exon4:c.T281C:p.I94T;ENSG00000154059:ENST00000585067:exon4:c.T227C:p.I76T;	0.0828901243854344	0.384
18	22010348	T	G	18	24430384	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon4:c.T281G:p.I94S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon4:c.T281G:p.I94S;ENSG00000154059:ENST00000284202:exon4:c.T281G:p.I94S;ENSG00000154059:ENST00000585067:exon4:c.T227G:p.I76S;	0.00103849128714416	0.052
18	22010349	G	A	18	24430385	y	y	splicing	IMPACT(NM_018439:exon4:c.281+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.281+1G>A;ENST00000585067:exon4:c.227+1G>A;ENST00000578221:exon4:c.281+1G>A)	.	.	0.999985532734767	0.936
18	22010349	G	C	18	24430385	y	y	splicing	IMPACT(NM_018439:exon4:c.281+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.281+1G>C;ENST00000585067:exon4:c.227+1G>C;ENST00000578221:exon4:c.281+1G>C)	.	.	0.999985532734767	0.936
18	22010349	G	T	18	24430385	y	y	splicing	IMPACT(NM_018439:exon4:c.281+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.281+1G>T;ENST00000585067:exon4:c.227+1G>T;ENST00000578221:exon4:c.281+1G>T)	.	.	0.999985532734767	0.936
18	22010350	T	A	18	24430386	y	y	splicing	IMPACT(NM_018439:exon4:c.281+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.281+2T>A;ENST00000585067:exon4:c.227+2T>A;ENST00000578221:exon4:c.281+2T>A)	.	.	0.999988247793601	0.928
18	22010350	T	C	18	24430386	y	y	splicing	IMPACT(NM_018439:exon4:c.281+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.281+2T>C;ENST00000585067:exon4:c.227+2T>C;ENST00000578221:exon4:c.281+2T>C)	.	.	0.99340600729494	0.652
18	22010350	T	G	18	24430386	y	y	splicing	IMPACT(NM_018439:exon4:c.281+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon4:c.281+2T>G;ENST00000585067:exon4:c.227+2T>G;ENST00000578221:exon4:c.281+2T>G)	.	.	0.999988247793601	0.928
18	22010351	A	C	18	24430387	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999891039022315	0.968
18	22010351	A	G	18	24430387	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.996393962446328	0.642
18	22010351	A	T	18	24430387	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999944160340217	0.988
18	22010352	A	C	18	24430388	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999566418248866	0.936
18	22010352	A	G	18	24430388	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999754078811503	0.988
18	22010352	A	T	18	24430388	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999673071940998	0.95
18	22010353	G	A	18	24430389	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999965845723167	0.988
18	22010353	G	C	18	24430389	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999637117799218	0.972
18	22010353	G	T	18	24430389	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999965845723167	0.964
18	22010354	T	A	18	24430390	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998308218969435	0.902
18	22010354	T	C	18	24430390	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.996571424080813	0.92
18	22010354	T	G	18	24430390	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.996148475527322	0.9
18	22010355	G	A	18	24430391	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.63661250860054E-5	0.0
18	22010355	G	C	18	24430391	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.10644846678701E-4	0.006
18	22010355	G	T	18	24430391	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.36175577204026E-5	0.02
18	22010356	A	C	18	24430392	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.43580093178243E-5	0.002
18	22010356	A	G	18	24430392	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.67698976591908E-4	0.002
18	22010356	A	T	18	24430392	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.45664961296383E-4	0.016
18	22017907	A	C	18	24437943	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	3.44786239562269E-5	0.0
18	22017907	A	G	18	24437943	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	4.78876600592875E-5	0.03
18	22017907	A	T	18	24437943	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	5.75698585160098E-5	0.046
18	22017908	A	C	18	24437944	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	1.29428411356452E-4	0.014
18	22017908	A	G	18	24437944	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.998409941636528	0.978
18	22017908	A	T	18	24437944	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	2.86757096138123E-4	0.164
18	22017909	T	A	18	24437945	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.999776745889861	0.922
18	22017909	T	C	18	24437945	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.299690239500131	0.474
18	22017909	T	G	18	24437945	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.99998626883267	0.972
18	22017910	T	A	18	24437946	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.99763671932831	0.906
18	22017910	T	C	18	24437946	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.481248662902593	0.428
18	22017910	T	G	18	24437946	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.994945090296115	0.866
18	22017911	T	A	18	24437947	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.0679342373111538	0.412
18	22017911	T	C	18	24437947	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	4.7682058497782E-4	0.024
18	22017911	T	G	18	24437947	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.00885046065448771	0.284
18	22017912	T	A	18	24437948	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.999915759162064	0.978
18	22017912	T	C	18	24437948	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	2.84217307284188E-4	0.044
18	22017912	T	G	18	24437948	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.0060675769929579	0.262
18	22017913	G	A	18	24437949	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	6.53065172992063E-4	0.044
18	22017913	G	C	18	24437949	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	2.55161969763249E-5	0.044
18	22017913	G	T	18	24437949	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	3.00684534904205E-5	0.002
18	22017914	T	A	18	24437950	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.951743591849402	0.748
18	22017914	T	C	18	24437950	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.126820436077792	0.312
18	22017914	T	G	18	24437950	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.996955099323704	0.794
18	22017915	T	A	18	24437951	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.00464656949376261	0.032
18	22017915	T	C	18	24437951	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	1.04102746548821E-4	0.036
18	22017915	T	G	18	24437951	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.00155820961750604	0.046
18	22017916	T	A	18	24437952	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.748546926331963	0.654
18	22017916	T	C	18	24437952	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	1.49895798893048E-4	0.058
18	22017916	T	G	18	24437952	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.998117520372552	0.812
18	22017917	A	C	18	24437953	y	y	splicing	IMPACT(NM_018439:exon5:c.282-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.282-2A>C;ENST00000585067:exon5:c.228-2A>C;ENST00000578221:exon5:c.282-2A>C)	.	.	0.999986741007567	0.94
18	22017917	A	G	18	24437953	y	y	splicing	IMPACT(NM_018439:exon5:c.282-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.282-2A>G;ENST00000585067:exon5:c.228-2A>G;ENST00000578221:exon5:c.282-2A>G)	.	.	0.999981537975149	0.938
18	22017917	A	T	18	24437953	y	y	splicing	IMPACT(NM_018439:exon5:c.282-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.282-2A>T;ENST00000585067:exon5:c.228-2A>T;ENST00000578221:exon5:c.282-2A>T)	.	.	0.999986741007567	0.94
18	22017918	G	A	18	24437954	y	y	splicing	IMPACT(NM_018439:exon5:c.282-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.282-1G>A;ENST00000585067:exon5:c.228-1G>A;ENST00000578221:exon5:c.282-1G>A)	.	.	0.999983677848485	0.942
18	22017918	G	C	18	24437954	y	y	splicing	IMPACT(NM_018439:exon5:c.282-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.282-1G>C;ENST00000585067:exon5:c.228-1G>C;ENST00000578221:exon5:c.282-1G>C)	.	.	0.999983677848485	0.942
18	22017918	G	T	18	24437954	y	y	splicing	IMPACT(NM_018439:exon5:c.282-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.282-1G>T;ENST00000585067:exon5:c.228-1G>T;ENST00000578221:exon5:c.282-1G>T)	.	.	0.999983677848485	0.942
18	22017919	T	A	18	24437955	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon5:c.T282A:p.I94I;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.T282A:p.I94I;ENSG00000154059:ENST00000284202:exon5:c.T282A:p.I94I;ENSG00000154059:ENST00000585067:exon5:c.T228A:p.I76I;	2.13610957426341E-5	0.02
18	22017919	T	C	18	24437955	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon5:c.T282C:p.I94I;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.T282C:p.I94I;ENSG00000154059:ENST00000284202:exon5:c.T282C:p.I94I;ENSG00000154059:ENST00000585067:exon5:c.T228C:p.I76I;	1.25334151037912E-4	0.064
18	22017919	T	G	18	24437955	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.T282G:p.I94M;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.T282G:p.I94M;ENSG00000154059:ENST00000284202:exon5:c.T282G:p.I94M;ENSG00000154059:ENST00000585067:exon5:c.T228G:p.I76M;	2.82650300160898E-4	0.062
18	22017920	C	A	18	24437956	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.C283A:p.Q95K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.C283A:p.Q95K;ENSG00000154059:ENST00000284202:exon5:c.C283A:p.Q95K;ENSG00000154059:ENST00000585067:exon5:c.C229A:p.Q77K;	0.00143540808417367	0.048
18	22017920	C	G	18	24437956	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.C283G:p.Q95E;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.C283G:p.Q95E;ENSG00000154059:ENST00000284202:exon5:c.C283G:p.Q95E;ENSG00000154059:ENST00000585067:exon5:c.C229G:p.Q77E;	5.88391349774456E-4	0.026
18	22017920	C	T	18	24437956	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon5:c.C283T:p.Q95X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000578221:exon5:c.C283T:p.Q95X;ENSG00000154059:ENST00000284202:exon5:c.C283T:p.Q95X;ENSG00000154059:ENST00000585067:exon5:c.C229T:p.Q77X;	0.0773883299476569	0.39
18	22018002	C	A	18	24438038	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.C365A:p.P122Q;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.C365A:p.P122Q;ENSG00000154059:ENST00000284202:exon5:c.C365A:p.P122Q;ENSG00000154059:ENST00000585067:exon5:c.C311A:p.P104Q;	0.0677426422417519	0.242
18	22018002	C	G	18	24438038	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.C365G:p.P122R;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.C365G:p.P122R;ENSG00000154059:ENST00000284202:exon5:c.C365G:p.P122R;ENSG00000154059:ENST00000585067:exon5:c.C311G:p.P104R;	0.0691593552266325	0.272
18	22018002	C	T	18	24438038	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.C365T:p.P122L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.C365T:p.P122L;ENSG00000154059:ENST00000284202:exon5:c.C365T:p.P122L;ENSG00000154059:ENST00000585067:exon5:c.C311T:p.P104L;	0.995346907950194	0.9
18	22018003	A	C	18	24438039	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon5:c.A366C:p.P122P;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.A366C:p.P122P;ENSG00000154059:ENST00000284202:exon5:c.A366C:p.P122P;ENSG00000154059:ENST00000585067:exon5:c.A312C:p.P104P;	0.998317713078739	0.984
18	22018003	A	G	18	24438039	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon5:c.A366G:p.P122P;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.A366G:p.P122P;ENSG00000154059:ENST00000284202:exon5:c.A366G:p.P122P;ENSG00000154059:ENST00000585067:exon5:c.A312G:p.P104P;	0.998386559038904	1.0
18	22018003	A	T	18	24438039	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon5:c.A366T:p.P122P;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.A366T:p.P122P;ENSG00000154059:ENST00000284202:exon5:c.A366T:p.P122P;ENSG00000154059:ENST00000585067:exon5:c.A312T:p.P104P;	0.999275929566809	1.0
18	22018004	G	A	18	24438040	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.G367A:p.G123S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.G367A:p.G123S;ENSG00000154059:ENST00000284202:exon5:c.G367A:p.G123S;ENSG00000154059:ENST00000585067:exon5:c.G313A:p.G105S;	0.999884710071331	0.988
18	22018004	G	C	18	24438040	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.G367C:p.G123R;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.G367C:p.G123R;ENSG00000154059:ENST00000284202:exon5:c.G367C:p.G123R;ENSG00000154059:ENST00000585067:exon5:c.G313C:p.G105R;	0.999984660585904	0.988
18	22018004	G	T	18	24438040	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon5:c.G367T:p.G123C;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon5:c.G367T:p.G123C;ENSG00000154059:ENST00000284202:exon5:c.G367T:p.G123C;ENSG00000154059:ENST00000585067:exon5:c.G313T:p.G105C;	0.999945443330958	1.0
18	22018005	G	A	18	24438041	y	y	splicing	IMPACT(NM_018439:exon5:c.367+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.367+1G>A;ENST00000585067:exon5:c.313+1G>A;ENST00000578221:exon5:c.367+1G>A)	.	.	0.999981760802075	0.938
18	22018005	G	C	18	24438041	y	y	splicing	IMPACT(NM_018439:exon5:c.367+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.367+1G>C;ENST00000585067:exon5:c.313+1G>C;ENST00000578221:exon5:c.367+1G>C)	.	.	0.999981760802075	0.938
18	22018005	G	T	18	24438041	y	y	splicing	IMPACT(NM_018439:exon5:c.367+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.367+1G>T;ENST00000585067:exon5:c.313+1G>T;ENST00000578221:exon5:c.367+1G>T)	.	.	0.999981760802075	0.938
18	22018006	T	A	18	24438042	y	y	splicing	IMPACT(NM_018439:exon5:c.367+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.367+2T>A;ENST00000585067:exon5:c.313+2T>A;ENST00000578221:exon5:c.367+2T>A)	.	.	0.999989917668626	0.928
18	22018006	T	C	18	24438042	y	y	splicing	IMPACT(NM_018439:exon5:c.367+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.367+2T>C;ENST00000585067:exon5:c.313+2T>C;ENST00000578221:exon5:c.367+2T>C)	.	.	0.993179459523591	0.62
18	22018006	T	G	18	24438042	y	y	splicing	IMPACT(NM_018439:exon5:c.367+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon5:c.367+2T>G;ENST00000585067:exon5:c.313+2T>G;ENST00000578221:exon5:c.367+2T>G)	.	.	0.999989917668626	0.928
18	22018007	A	C	18	24438043	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.996776016166268	0.838
18	22018007	A	G	18	24438043	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.854071624006999	0.744
18	22018007	A	T	18	24438043	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.996208381778372	0.834
18	22018008	G	A	18	24438044	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	3.96689292501012E-4	0.124
18	22018008	G	C	18	24438044	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	1.34949975877287E-4	0.072
18	22018008	G	T	18	24438044	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	2.30167058321806E-4	0.026
18	22018009	G	A	18	24438045	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.950392637770938	0.708
18	22018009	G	C	18	24438045	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.999459129916038	0.848
18	22018009	G	T	18	24438045	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.999620544217163	0.814
18	22018010	A	C	18	24438046	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	2.07364099754808E-4	0.006
18	22018010	A	G	18	24438046	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	1.38604448826745E-4	0.0
18	22018010	A	T	18	24438046	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	4.68148602687627E-5	0.008
18	22018011	T	A	18	24438047	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	1.4078397316037E-4	0.02
18	22018011	T	C	18	24438047	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	1.04345016229266E-4	0.004
18	22018011	T	G	18	24438047	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	1.15543806912382E-4	0.004
18	22018012	T	A	18	24438048	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.00489098150379844	0.014
18	22018012	T	C	18	24438048	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.00339859164931258	0.046
18	22018012	T	G	18	24438048	y	y	intronic	IMPACT	.	.	ncRNA_intronic	ENSG00000265094	.	.	0.0032931573554757	0.04
18	22020448	A	C	18	24440484	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.16105189685973E-5	0.004
18	22020448	A	G	18	24440484	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.63702071667284E-5	0.044
18	22020448	A	T	18	24440484	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.14581410444789E-5	0.022
18	22020449	T	A	18	24440485	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.309707042097646	0.532
18	22020449	T	C	18	24440485	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0144166446598824	0.26
18	22020449	T	G	18	24440485	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999878394571568	0.944
18	22020450	A	C	18	24440486	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.20543378537447E-5	0.0
18	22020450	A	G	18	24440486	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.53368207973557E-5	0.0
18	22020450	A	T	18	24440486	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.20543378537447E-5	0.0
18	22020451	T	A	18	24440487	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00506629297669348	0.38
18	22020451	T	C	18	24440487	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.06931657472172E-5	0.018
18	22020451	T	G	18	24440487	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999841089154423	0.954
18	22020452	T	A	18	24440488	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00114593290117905	0.138
18	22020452	T	C	18	24440488	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.18284266108581E-5	0.0
18	22020452	T	G	18	24440488	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.50241588185405E-4	0.158
18	22020453	C	A	18	24440489	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.79391753457384E-5	0.1
18	22020453	C	G	18	24440489	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.26092976391985E-4	0.104
18	22020453	C	T	18	24440489	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.15890535264409E-5	0.022
18	22020454	A	C	18	24440490	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.44567246961622E-5	0.002
18	22020454	A	G	18	24440490	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.45065065947929E-5	0.004
18	22020454	A	T	18	24440490	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.67944982512943E-5	0.0
18	22020455	C	A	18	24440491	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.77670952568749E-4	0.122
18	22020455	C	G	18	24440491	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.986193792841293	0.624
18	22020455	C	T	18	24440491	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.58645906776164E-5	0.0
18	22020456	A	C	18	24440492	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.74058468221271E-5	0.058
18	22020456	A	G	18	24440492	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.84468579393412E-4	0.058
18	22020456	A	T	18	24440492	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00140834938114715	0.186
18	22020457	T	A	18	24440493	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0872622496947324	0.328
18	22020457	T	C	18	24440493	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.26207442189803E-5	0.058
18	22020457	T	G	18	24440493	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.978907724592157	0.652
18	22020458	A	C	18	24440494	y	y	splicing	IMPACT(NM_018439:exon6:c.368-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.368-2A>C;ENST00000585067:exon6:c.314-2A>C;ENST00000578221:exon6:c.368-2A>C)	.	.	0.999975484273506	0.782
18	22020458	A	G	18	24440494	y	y	splicing	IMPACT(NM_018439:exon6:c.368-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.368-2A>G;ENST00000585067:exon6:c.314-2A>G;ENST00000578221:exon6:c.368-2A>G)	.	.	0.999975484273506	0.782
18	22020458	A	T	18	24440494	y	y	splicing	IMPACT(NM_018439:exon6:c.368-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.368-2A>T;ENST00000585067:exon6:c.314-2A>T;ENST00000578221:exon6:c.368-2A>T)	.	.	0.999982399457696	0.78
18	22020459	G	A	18	24440495	y	y	splicing	IMPACT(NM_018439:exon6:c.368-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.368-1G>A;ENST00000585067:exon6:c.314-1G>A;ENST00000578221:exon6:c.368-1G>A)	.	.	0.999974744390965	0.804
18	22020459	G	C	18	24440495	y	y	splicing	IMPACT(NM_018439:exon6:c.368-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.368-1G>C;ENST00000585067:exon6:c.314-1G>C;ENST00000578221:exon6:c.368-1G>C)	.	.	0.999980045018896	0.778
18	22020459	G	T	18	24440495	y	y	splicing	IMPACT(NM_018439:exon6:c.368-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.368-1G>T;ENST00000585067:exon6:c.314-1G>T;ENST00000578221:exon6:c.368-1G>T)	.	.	0.999974744390965	0.778
18	22020460	G	A	18	24440496	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon6:c.G368A:p.G123D;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.G368A:p.G123D;ENSG00000154059:ENST00000284202:exon6:c.G368A:p.G123D;ENSG00000154059:ENST00000585067:exon6:c.G314A:p.G105D;	0.00737870347249355	0.262
18	22020460	G	C	18	24440496	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon6:c.G368C:p.G123A;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.G368C:p.G123A;ENSG00000154059:ENST00000284202:exon6:c.G368C:p.G123A;ENSG00000154059:ENST00000585067:exon6:c.G314C:p.G105A;	0.0047425957512433	0.416
18	22020460	G	T	18	24440496	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon6:c.G368T:p.G123V;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.G368T:p.G123V;ENSG00000154059:ENST00000284202:exon6:c.G368T:p.G123V;ENSG00000154059:ENST00000585067:exon6:c.G314T:p.G105V;	0.118674748284243	0.572
18	22020461	C	A	18	24440497	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon6:c.C369A:p.G123G;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.C369A:p.G123G;ENSG00000154059:ENST00000284202:exon6:c.C369A:p.G123G;ENSG00000154059:ENST00000585067:exon6:c.C315A:p.G105G;	1.05576715330602E-4	0.012
18	22020461	C	G	18	24440497	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon6:c.C369G:p.G123G;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.C369G:p.G123G;ENSG00000154059:ENST00000284202:exon6:c.C369G:p.G123G;ENSG00000154059:ENST00000585067:exon6:c.C315G:p.G105G;	7.40173270250616E-6	0.0
18	22020461	C	T	18	24440497	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon6:c.C369T:p.G123G;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.C369T:p.G123G;ENSG00000154059:ENST00000284202:exon6:c.C369T:p.G123G;ENSG00000154059:ENST00000585067:exon6:c.C315T:p.G105G;	9.25712051380913E-6	0.0
18	22020580	C	A	18	24440616	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon6:c.C488A:p.T163K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.C488A:p.T163K;ENSG00000154059:ENST00000284202:exon6:c.C488A:p.T163K;ENSG00000154059:ENST00000585067:exon6:c.C434A:p.T145K;	1.89312666425909E-4	0.008
18	22020580	C	G	18	24440616	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon6:c.C488G:p.T163R;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.C488G:p.T163R;ENSG00000154059:ENST00000284202:exon6:c.C488G:p.T163R;ENSG00000154059:ENST00000585067:exon6:c.C434G:p.T145R;	0.0399409371214326	0.224
18	22020580	C	T	18	24440616	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon6:c.C488T:p.T163I;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.C488T:p.T163I;ENSG00000154059:ENST00000284202:exon6:c.C488T:p.T163I;ENSG00000154059:ENST00000585067:exon6:c.C434T:p.T145I;	0.906132196983421	0.622
18	22020581	A	C	18	24440617	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon6:c.A489C:p.T163T;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.A489C:p.T163T;ENSG00000154059:ENST00000284202:exon6:c.A489C:p.T163T;ENSG00000154059:ENST00000585067:exon6:c.A435C:p.T145T;	0.978997711629897	0.894
18	22020581	A	G	18	24440617	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon6:c.A489G:p.T163T;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.A489G:p.T163T;ENSG00000154059:ENST00000284202:exon6:c.A489G:p.T163T;ENSG00000154059:ENST00000585067:exon6:c.A435G:p.T145T;	0.967360991030885	0.912
18	22020581	A	T	18	24440617	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon6:c.A489T:p.T163T;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.A489T:p.T163T;ENSG00000154059:ENST00000284202:exon6:c.A489T:p.T163T;ENSG00000154059:ENST00000585067:exon6:c.A435T:p.T145T;	0.995846963842821	0.918
18	22020582	G	A	18	24440618	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon6:c.G490A:p.E164K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.G490A:p.E164K;ENSG00000154059:ENST00000284202:exon6:c.G490A:p.E164K;ENSG00000154059:ENST00000585067:exon6:c.G436A:p.E146K;	0.999987844202636	0.97
18	22020582	G	C	18	24440618	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon6:c.G490C:p.E164Q;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000578221:exon6:c.G490C:p.E164Q;ENSG00000154059:ENST00000284202:exon6:c.G490C:p.E164Q;ENSG00000154059:ENST00000585067:exon6:c.G436C:p.E146Q;	0.999997140714784	0.972
18	22020582	G	T	18	24440618	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon6:c.G490T:p.E164X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000578221:exon6:c.G490T:p.E164X;ENSG00000154059:ENST00000284202:exon6:c.G490T:p.E164X;ENSG00000154059:ENST00000585067:exon6:c.G436T:p.E146X;	0.999986714151356	0.992
18	22020583	G	A	18	24440619	y	y	splicing	IMPACT(NM_018439:exon6:c.490+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.490+1G>A;ENST00000585067:exon6:c.436+1G>A;ENST00000578221:exon6:c.490+1G>A)	.	.	0.999958812450268	0.944
18	22020583	G	C	18	24440619	y	y	splicing	IMPACT(NM_018439:exon6:c.490+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.490+1G>C;ENST00000585067:exon6:c.436+1G>C;ENST00000578221:exon6:c.490+1G>C)	.	.	0.99996748057446	0.912
18	22020583	G	T	18	24440619	y	y	splicing	IMPACT(NM_018439:exon6:c.490+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.490+1G>T;ENST00000585067:exon6:c.436+1G>T;ENST00000578221:exon6:c.490+1G>T)	.	.	0.999945530492988	0.908
18	22020584	T	A	18	24440620	y	y	splicing	IMPACT(NM_018439:exon6:c.490+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.490+2T>A;ENST00000585067:exon6:c.436+2T>A;ENST00000578221:exon6:c.490+2T>A)	.	.	0.999978156327223	0.932
18	22020584	T	C	18	24440620	y	y	splicing	IMPACT(NM_018439:exon6:c.490+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.490+2T>C;ENST00000585067:exon6:c.436+2T>C;ENST00000578221:exon6:c.490+2T>C)	.	.	0.983100127440824	0.624
18	22020584	T	G	18	24440620	y	y	splicing	IMPACT(NM_018439:exon6:c.490+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon6:c.490+2T>G;ENST00000585067:exon6:c.436+2T>G;ENST00000578221:exon6:c.490+2T>G)	.	.	0.999982151912279	0.892
18	22020585	A	C	18	24440621	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999831009902312	0.938
18	22020585	A	G	18	24440621	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999230227762599	0.862
18	22020585	A	T	18	24440621	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99990331124091	0.93
18	22020586	T	A	18	24440622	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.14206356084313E-4	0.094
18	22020586	T	C	18	24440622	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.40096274260186E-4	0.02
18	22020586	T	G	18	24440622	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.37476669267245E-5	0.002
18	22020587	A	C	18	24440623	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.5458423491354E-4	0.036
18	22020587	A	G	18	24440623	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0020926074639729	0.184
18	22020587	A	T	18	24440623	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	8.75921991005993E-4	0.028
18	22020588	A	C	18	24440624	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.20251502720635E-5	0.042
18	22020588	A	G	18	24440624	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.1031617573326E-5	0.0
18	22020588	A	T	18	24440624	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.41465500742213E-5	0.124
18	22020589	T	A	18	24440625	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.75612123584967E-4	0.02
18	22020589	T	C	18	24440625	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00116491426547665	0.024
18	22020589	T	G	18	24440625	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.75612123584967E-4	0.018
18	22020590	G	A	18	24440626	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.28225960316881E-5	0.0
18	22020590	G	C	18	24440626	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.28225960316881E-5	0.0
18	22020590	G	T	18	24440626	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.28225960316881E-5	0.0
18	22023001	T	A	18	24443037	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0153452454308028	0.15
18	22023001	T	C	18	24443037	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.41263738665622E-4	0.018
18	22023001	T	G	18	24443037	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0140015926742264	0.158
18	22023002	T	A	18	24443038	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.797052039035277	0.66
18	22023002	T	C	18	24443038	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0240526861421158	0.246
18	22023002	T	G	18	24443038	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.442030976493451	0.526
18	22023003	A	C	18	24443039	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.76418569638953E-4	0.014
18	22023003	A	G	18	24443039	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	8.34058039686734E-5	0.006
18	22023003	A	T	18	24443039	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.00761919081241E-4	0.002
18	22023004	C	A	18	24443040	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.34903802057987E-4	0.014
18	22023004	C	G	18	24443040	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999492526355346	0.958
18	22023004	C	T	18	24443040	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.8272606267837E-5	0.0
18	22023005	A	C	18	24443041	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00128912593527341	0.006
18	22023005	A	G	18	24443041	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00149599580252877	0.004
18	22023005	A	T	18	24443041	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.21708277613998E-4	0.0
18	22023006	T	A	18	24443042	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.192218652044219	0.284
18	22023006	T	C	18	24443042	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.82141427057191E-4	0.012
18	22023006	T	G	18	24443042	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999917011245546	0.968
18	22023007	T	A	18	24443043	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.490260844476397	0.574
18	22023007	T	C	18	24443043	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.26093093886624E-4	0.01
18	22023007	T	G	18	24443043	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.509926491578613	0.508
18	22023008	T	A	18	24443044	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998913477663202	0.922
18	22023008	T	C	18	24443044	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.326979917254336	0.306
18	22023008	T	G	18	24443044	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998436095272627	0.924
18	22023009	C	A	18	24443045	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.89500702399012E-5	0.004
18	22023009	C	G	18	24443045	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.16016088057744E-5	0.0
18	22023009	C	T	18	24443045	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.18891841976607E-5	0.002
18	22023010	T	A	18	24443046	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.220100312529092	0.368
18	22023010	T	C	18	24443046	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.0210281240528E-4	0.028
18	22023010	T	G	18	24443046	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.972569843861165	0.674
18	22023011	A	C	18	24443047	y	y	splicing	IMPACT(NM_018439:exon7:c.491-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.491-2A>C;ENST00000585067:exon7:c.437-2A>C)	.	.	0.999980535492709	0.748
18	22023011	A	G	18	24443047	y	y	splicing	IMPACT(NM_018439:exon7:c.491-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.491-2A>G;ENST00000585067:exon7:c.437-2A>G)	.	.	0.999980535492709	0.748
18	22023011	A	T	18	24443047	y	y	splicing	IMPACT(NM_018439:exon7:c.491-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.491-2A>T;ENST00000585067:exon7:c.437-2A>T)	.	.	0.999980535492709	0.754
18	22023012	G	A	18	24443048	y	y	splicing	IMPACT(NM_018439:exon7:c.491-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.491-1G>A;ENST00000585067:exon7:c.437-1G>A)	.	.	0.999980535492709	0.752
18	22023012	G	C	18	24443048	y	y	splicing	IMPACT(NM_018439:exon7:c.491-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.491-1G>C;ENST00000585067:exon7:c.437-1G>C)	.	.	0.999980535492709	0.746
18	22023012	G	T	18	24443048	y	y	splicing	IMPACT(NM_018439:exon7:c.491-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.491-1G>T;ENST00000585067:exon7:c.437-1G>T)	.	.	0.999980535492709	0.746
18	22023013	A	C	18	24443049	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.A491C:p.E164A;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A491C:p.E164A;ENSG00000154059:ENST00000585067:exon7:c.A437C:p.E146A;	1.01796702205503E-4	0.056
18	22023013	A	G	18	24443049	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.A491G:p.E164G;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A491G:p.E164G;ENSG00000154059:ENST00000585067:exon7:c.A437G:p.E146G;	1.44467592136633E-4	0.008
18	22023013	A	T	18	24443049	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.A491T:p.E164V;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A491T:p.E164V;ENSG00000154059:ENST00000585067:exon7:c.A437T:p.E146V;	0.00524404384522359	0.072
18	22023014	A	C	18	24443050	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.A492C:p.E164D;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A492C:p.E164D;ENSG00000154059:ENST00000585067:exon7:c.A438C:p.E146D;	1.05474622508453E-4	0.002
18	22023014	A	G	18	24443050	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon7:c.A492G:p.E164E;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A492G:p.E164E;ENSG00000154059:ENST00000585067:exon7:c.A438G:p.E146E;	6.57439388603961E-5	0.014
18	22023014	A	T	18	24443050	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.A492T:p.E164D;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A492T:p.E164D;ENSG00000154059:ENST00000585067:exon7:c.A438T:p.E146D;	1.28963952707527E-4	0.008
18	22023114	C	A	18	24443150	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.C592A:p.Q198K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.C592A:p.Q198K;ENSG00000154059:ENST00000585067:exon7:c.C538A:p.Q180K;	0.907895019103676	0.662
18	22023114	C	G	18	24443150	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.C592G:p.Q198E;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.C592G:p.Q198E;ENSG00000154059:ENST00000585067:exon7:c.C538G:p.Q180E;	0.0372619222677555	0.242
18	22023114	C	T	18	24443150	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon7:c.C592T:p.Q198X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000284202:exon7:c.C592T:p.Q198X;ENSG00000154059:ENST00000585067:exon7:c.C538T:p.Q180X;	0.999317745718342	0.962
18	22023115	A	C	18	24443151	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.A593C:p.Q198P;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A593C:p.Q198P;ENSG00000154059:ENST00000585067:exon7:c.A539C:p.Q180P;	0.994719540945129	0.882
18	22023115	A	G	18	24443151	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.A593G:p.Q198R;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A593G:p.Q198R;ENSG00000154059:ENST00000585067:exon7:c.A539G:p.Q180R;	0.999154466471247	0.972
18	22023115	A	T	18	24443151	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.A593T:p.Q198L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.A593T:p.Q198L;ENSG00000154059:ENST00000585067:exon7:c.A539T:p.Q180L;	0.999008873911495	0.968
18	22023116	G	A	18	24443152	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon7:c.G594A:p.Q198Q;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.G594A:p.Q198Q;ENSG00000154059:ENST00000585067:exon7:c.G540A:p.Q180Q;	0.999928199939662	0.996
18	22023116	G	C	18	24443152	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.G594C:p.Q198H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.G594C:p.Q198H;ENSG00000154059:ENST00000585067:exon7:c.G540C:p.Q180H;	0.999997608014363	1.0
18	22023116	G	T	18	24443152	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon7:c.G594T:p.Q198H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon7:c.G594T:p.Q198H;ENSG00000154059:ENST00000585067:exon7:c.G540T:p.Q180H;	0.999983718302808	1.0
18	22023117	G	A	18	24443153	y	y	splicing	IMPACT(NM_018439:exon7:c.594+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.594+1G>A;ENST00000585067:exon7:c.540+1G>A)	.	.	0.99996748057446	0.91
18	22023117	G	C	18	24443153	y	y	splicing	IMPACT(NM_018439:exon7:c.594+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.594+1G>C;ENST00000585067:exon7:c.540+1G>C)	.	.	0.99996748057446	0.908
18	22023117	G	T	18	24443153	y	y	splicing	IMPACT(NM_018439:exon7:c.594+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.594+1G>T;ENST00000585067:exon7:c.540+1G>T)	.	.	0.99996748057446	0.91
18	22023118	T	A	18	24443154	y	y	splicing	IMPACT(NM_018439:exon7:c.594+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.594+2T>A;ENST00000585067:exon7:c.540+2T>A)	.	.	0.999982151912279	0.89
18	22023118	T	C	18	24443154	y	y	splicing	IMPACT(NM_018439:exon7:c.594+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.594+2T>C;ENST00000585067:exon7:c.540+2T>C)	.	.	0.970259939612263	0.588
18	22023118	T	G	18	24443154	y	y	splicing	IMPACT(NM_018439:exon7:c.594+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon7:c.594+2T>G;ENST00000585067:exon7:c.540+2T>G)	.	.	0.999972871252391	0.868
18	22023119	A	C	18	24443155	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.994678009595281	0.676
18	22023119	A	G	18	24443155	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0438643142845251	0.408
18	22023119	A	T	18	24443155	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.967527370935035	0.632
18	22023120	A	C	18	24443156	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.104955995168563	0.3
18	22023120	A	G	18	24443156	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.128819482194596	0.392
18	22023120	A	T	18	24443156	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0872709559599642	0.31
18	22023121	A	C	18	24443157	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.15206158675948E-5	0.008
18	22023121	A	G	18	24443157	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.36419181703737E-5	0.004
18	22023121	A	T	18	24443157	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.27450773517873E-4	0.002
18	22023122	G	A	18	24443158	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.92299104586959E-5	0.008
18	22023122	G	C	18	24443158	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.60103935671118E-4	0.05
18	22023122	G	T	18	24443158	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.47569122273876E-4	0.004
18	22023123	T	A	18	24443159	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.5966154680278E-4	0.026
18	22023123	T	C	18	24443159	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.5966154680278E-4	0.026
18	22023123	T	G	18	24443159	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.56038795612366E-4	0.028
18	22023124	T	A	18	24443160	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.76253643775456E-5	0.044
18	22023124	T	C	18	24443160	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.13419796689438E-4	0.048
18	22023124	T	G	18	24443160	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.15238389909163E-5	0.034
18	22025345	G	A	18	24445381	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	8.63304203216206E-4	0.034
18	22025345	G	C	18	24445381	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.53008793060232E-5	0.018
18	22025345	G	T	18	24445381	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.70427130383895E-5	0.004
18	22025346	C	A	18	24445382	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0136047777064685	0.094
18	22025346	C	G	18	24445382	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00612445920759095	0.076
18	22025346	C	T	18	24445382	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.14280159506554E-4	0.0
18	22025347	T	A	18	24445383	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99996089707423	0.968
18	22025347	T	C	18	24445383	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00391746454377323	0.178
18	22025347	T	G	18	24445383	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.864526904547544	0.634
18	22025348	G	A	18	24445384	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.93722929106316E-4	0.024
18	22025348	G	C	18	24445384	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.16426496062586E-5	0.004
18	22025348	G	T	18	24445384	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.01692503168949E-5	0.002
18	22025349	T	A	18	24445385	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0534066353444317	0.294
18	22025349	T	C	18	24445385	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	8.76669226327876E-4	0.1
18	22025349	T	G	18	24445385	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00583481155351143	0.234
18	22025350	T	A	18	24445386	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.930749043450107	0.474
18	22025350	T	C	18	24445386	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00517037821208919	0.15
18	22025350	T	G	18	24445386	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.821908200154563	0.424
18	22025351	T	A	18	24445387	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.983003208189286	0.764
18	22025351	T	C	18	24445387	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0236900420911163	0.14
18	22025351	T	G	18	24445387	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.995256415713475	0.744
18	22025352	T	A	18	24445388	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998929560533497	0.894
18	22025352	T	C	18	24445388	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.363041275599301	0.352
18	22025352	T	G	18	24445388	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998164866156934	0.898
18	22025353	T	A	18	24445389	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00121987215827741	0.044
18	22025353	T	C	18	24445389	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.8776687654648E-4	0.054
18	22025353	T	G	18	24445389	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.70510635089088E-4	0.066
18	22025354	A	C	18	24445390	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.73258145522621E-4	0.038
18	22025354	A	G	18	24445390	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.248082872692454	0.446
18	22025354	A	T	18	24445390	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.48315413881844E-4	0.002
18	22025355	A	C	18	24445391	y	y	splicing	IMPACT(NM_018439:exon8:c.595-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.595-2A>C;ENST00000585067:exon8:c.541-2A>C)	.	.	0.999990764389106	0.938
18	22025355	A	G	18	24445391	y	y	splicing	IMPACT(NM_018439:exon8:c.595-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.595-2A>G;ENST00000585067:exon8:c.541-2A>G)	.	.	0.999990764389106	0.938
18	22025355	A	T	18	24445391	y	y	splicing	IMPACT(NM_018439:exon8:c.595-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.595-2A>T;ENST00000585067:exon8:c.541-2A>T)	.	.	0.999990764389106	0.938
18	22025356	G	A	18	24445392	y	y	splicing	IMPACT(NM_018439:exon8:c.595-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.595-1G>A;ENST00000585067:exon8:c.541-1G>A)	.	.	0.999989528922238	0.934
18	22025356	G	C	18	24445392	y	y	splicing	IMPACT(NM_018439:exon8:c.595-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.595-1G>C;ENST00000585067:exon8:c.541-1G>C)	.	.	0.999989528922238	0.934
18	22025356	G	T	18	24445392	y	y	splicing	IMPACT(NM_018439:exon8:c.595-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.595-1G>T;ENST00000585067:exon8:c.541-1G>T)	.	.	0.999989528922238	0.934
18	22025357	G	A	18	24445393	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.G595A:p.V199M;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.G595A:p.V199M;	0.99977673530145	0.942
18	22025357	G	C	18	24445393	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.G595C:p.V199L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.G595C:p.V199L;	0.999896700145235	0.974
18	22025357	G	T	18	24445393	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.G595T:p.V199L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.G595T:p.V199L;	0.999938163480326	1.0
18	22025358	T	A	18	24445394	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.T596A:p.V199E;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.T596A:p.V199E;	0.886816252640053	0.508
18	22025358	T	C	18	24445394	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.T596C:p.V199A;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.T596C:p.V199A;	0.888342082549987	0.526
18	22025358	T	G	18	24445394	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.T596G:p.V199G;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.T596G:p.V199G;	0.877669307043815	0.464
18	22025428	C	A	18	24445464	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon8:c.C666A:p.Y222X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000284202:exon8:c.C666A:p.Y222X;	0.211233343623393	0.518
18	22025428	C	G	18	24445464	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon8:c.C666G:p.Y222X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000284202:exon8:c.C666G:p.Y222X;	0.111685711246098	0.396
18	22025428	C	T	18	24445464	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon8:c.C666T:p.Y222Y;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.C666T:p.Y222Y;	0.432653855067281	0.384
18	22025429	A	C	18	24445465	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon8:c.A667C:p.R223R;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.A667C:p.R223R;	0.137151651281637	0.584
18	22025429	A	G	18	24445465	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.A667G:p.R223G;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.A667G:p.R223G;	0.634957643104427	0.566
18	22025429	A	T	18	24445465	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon8:c.A667T:p.R223X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000284202:exon8:c.A667T:p.R223X;	0.794335295975064	0.466
18	22025430	G	A	18	24445466	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.G668A:p.R223K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.G668A:p.R223K;	0.9997068332969	0.922
18	22025430	G	C	18	24445466	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.G668C:p.R223T;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.G668C:p.R223T;	0.99990897131185	0.95
18	22025430	G	T	18	24445466	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon8:c.G668T:p.R223I;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon8:c.G668T:p.R223I;	0.999839820071193	0.952
18	22025431	G	A	18	24445467	y	y	splicing	IMPACT(NM_018439:exon8:c.668+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.668+1G>A)	.	.	0.999986675681007	0.932
18	22025431	G	C	18	24445467	y	y	splicing	IMPACT(NM_018439:exon8:c.668+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.668+1G>C)	.	.	0.999986675681007	0.932
18	22025431	G	T	18	24445467	y	y	splicing	IMPACT(NM_018439:exon8:c.668+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.668+1G>T)	.	.	0.999986675681007	0.932
18	22025432	T	A	18	24445468	y	y	splicing	IMPACT(NM_018439:exon8:c.668+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.668+2T>A)	.	.	0.999981808176352	0.922
18	22025432	T	C	18	24445468	y	y	splicing	IMPACT(NM_018439:exon8:c.668+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.668+2T>C)	.	.	0.999965898635511	0.88
18	22025432	T	G	18	24445468	y	y	splicing	IMPACT(NM_018439:exon8:c.668+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon8:c.668+2T>G)	.	.	0.999981808176352	0.92
18	22025433	G	A	18	24445469	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.82013719133497E-5	0.0
18	22025433	G	C	18	24445469	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00341145891715771	0.294
18	22025433	G	T	18	24445469	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0178128251963828	0.4
18	22025434	A	C	18	24445470	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.979909995714022	0.788
18	22025434	A	G	18	24445470	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.996382394530973	0.816
18	22025434	A	T	18	24445470	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.992898746547112	0.82
18	22025435	G	A	18	24445471	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999765524137725	0.918
18	22025435	G	C	18	24445471	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99750772049964	0.878
18	22025435	G	T	18	24445471	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999124966893372	0.864
18	22025436	T	A	18	24445472	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.282140010709233	0.44
18	22025436	T	C	18	24445472	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.233065481034961	0.352
18	22025436	T	G	18	24445472	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0913564343566596	0.276
18	22025437	A	C	18	24445473	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.01259411451367E-4	0.006
18	22025437	A	G	18	24445473	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.12205058205933E-5	0.004
18	22025437	A	T	18	24445473	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.70246902997168E-5	0.058
18	22025438	A	C	18	24445474	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.0096200172E-4	0.032
18	22025438	A	G	18	24445474	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.20889559634613E-5	0.024
18	22025438	A	T	18	24445474	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.78492773149882E-5	0.048
18	22028045	A	C	18	24448081	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.13792240362232E-5	0.0
18	22028045	A	G	18	24448081	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.92321395632014E-4	0.024
18	22028045	A	T	18	24448081	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.20462237133157E-5	0.004
18	22028046	T	A	18	24448082	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999947561886927	0.972
18	22028046	T	C	18	24448082	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00570088548784992	0.29
18	22028046	T	G	18	24448082	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999922125328862	0.974
18	22028047	G	A	18	24448083	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0038698178767167	0.086
18	22028047	G	C	18	24448083	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.43479862836794E-5	0.006
18	22028047	G	T	18	24448083	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.01375598777353E-5	0.008
18	22028048	T	A	18	24448084	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.224042574565954	0.45
18	22028048	T	C	18	24448084	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.81002728029031E-4	0.086
18	22028048	T	G	18	24448084	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.271154773039406	0.546
18	22028049	A	C	18	24448085	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.38037018285047E-4	0.066
18	22028049	A	G	18	24448085	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.41315855986913E-4	0.06
18	22028049	A	T	18	24448085	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.44014407980328E-5	0.076
18	22028050	T	A	18	24448086	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.594519922312152	0.558
18	22028050	T	C	18	24448086	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.79556377864247E-5	0.036
18	22028050	T	G	18	24448086	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99984212495815	0.978
18	22028051	T	A	18	24448087	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.919042553306063	0.69
18	22028051	T	C	18	24448087	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.98845643702186E-4	0.04
18	22028051	T	G	18	24448087	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.867061154805428	0.602
18	22028052	T	A	18	24448088	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998667681763846	0.922
18	22028052	T	C	18	24448088	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00847871318362003	0.14
18	22028052	T	G	18	24448088	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.953955563635937	0.65
18	22028053	G	A	18	24448089	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.63365187339982E-4	0.036
18	22028053	G	C	18	24448089	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.75024712407185E-5	0.018
18	22028053	G	T	18	24448089	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.202109969316E-4	0.016
18	22028054	C	A	18	24448090	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.957048844841268	0.666
18	22028054	C	G	18	24448090	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.997128889942188	0.766
18	22028054	C	T	18	24448090	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00179606742057864	0.082
18	22028055	A	C	18	24448091	y	y	splicing	IMPACT(NM_018439:exon9:c.669-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.669-2A>C)	.	.	0.999982322733069	0.91
18	22028055	A	G	18	24448091	y	y	splicing	IMPACT(NM_018439:exon9:c.669-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.669-2A>G)	.	.	0.999982322733069	0.91
18	22028055	A	T	18	24448091	y	y	splicing	IMPACT(NM_018439:exon9:c.669-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.669-2A>T)	.	.	0.999982322733069	0.912
18	22028056	G	A	18	24448092	y	y	splicing	IMPACT(NM_018439:exon9:c.669-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.669-1G>A)	.	.	0.999968021563937	0.914
18	22028056	G	C	18	24448092	y	y	splicing	IMPACT(NM_018439:exon9:c.669-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.669-1G>C)	.	.	0.999968021563937	0.914
18	22028056	G	T	18	24448092	y	y	splicing	IMPACT(NM_018439:exon9:c.669-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.669-1G>T)	.	.	0.999968021563937	0.914
18	22028057	A	C	18	24448093	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.A669C:p.R223S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A669C:p.R223S;	2.3352529148764E-4	0.206
18	22028057	A	G	18	24448093	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon9:c.A669G:p.R223R;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A669G:p.R223R;	1.03244004146947E-4	0.022
18	22028057	A	T	18	24448093	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.A669T:p.R223S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A669T:p.R223S;	6.60969108742434E-4	0.274
18	22028058	A	C	18	24448094	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.A670C:p.I224L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A670C:p.I224L;	0.818153975701033	0.836
18	22028058	A	G	18	24448094	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.A670G:p.I224V;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A670G:p.I224V;	0.784977655991379	0.678
18	22028058	A	T	18	24448094	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.A670T:p.I224L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A670T:p.I224L;	0.794308209261393	0.784
18	22028145	G	A	18	24448181	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.G757A:p.E253K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.G757A:p.E253K;ENSG00000154059:ENST00000581278:exon1:c.G43A:p.E15K;	0.326028667961943	0.44
18	22028145	G	C	18	24448181	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.G757C:p.E253Q;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.G757C:p.E253Q;ENSG00000154059:ENST00000581278:exon1:c.G43C:p.E15Q;	0.00471623152789029	0.02
18	22028145	G	T	18	24448181	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon9:c.G757T:p.E253X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000284202:exon9:c.G757T:p.E253X;ENSG00000154059:ENST00000581278:exon1:c.G43T:p.E15X;	0.975514096037839	0.856
18	22028146	A	C	18	24448182	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.A758C:p.E253A;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A758C:p.E253A;ENSG00000154059:ENST00000581278:exon1:c.A44C:p.E15A;	0.918442311526633	0.82
18	22028146	A	G	18	24448182	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.A758G:p.E253G;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A758G:p.E253G;ENSG00000154059:ENST00000581278:exon1:c.A44G:p.E15G;	0.998680728873198	0.966
18	22028146	A	T	18	24448182	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.A758T:p.E253V;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.A758T:p.E253V;ENSG00000154059:ENST00000581278:exon1:c.A44T:p.E15V;	0.991435416606933	0.896
18	22028147	G	A	18	24448183	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon9:c.G759A:p.E253E;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.G759A:p.E253E;ENSG00000154059:ENST00000581278:exon1:c.G45A:p.E15E;	0.99975239338181	0.996
18	22028147	G	C	18	24448183	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.G759C:p.E253D;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.G759C:p.E253D;ENSG00000154059:ENST00000581278:exon1:c.G45C:p.E15D;	0.999892734880874	0.956
18	22028147	G	T	18	24448183	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon9:c.G759T:p.E253D;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon9:c.G759T:p.E253D;ENSG00000154059:ENST00000581278:exon1:c.G45T:p.E15D;	0.99981507290574	0.978
18	22028148	G	A	18	24448184	y	y	splicing	IMPACT(NM_018439:exon9:c.759+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.759+1G>A;ENST00000581278:exon1:c.45+1G>A)	.	.	0.999981760802075	0.942
18	22028148	G	C	18	24448184	y	y	splicing	IMPACT(NM_018439:exon9:c.759+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.759+1G>C;ENST00000581278:exon1:c.45+1G>C)	.	.	0.999981760802075	0.942
18	22028148	G	T	18	24448184	y	y	splicing	IMPACT(NM_018439:exon9:c.759+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.759+1G>T;ENST00000581278:exon1:c.45+1G>T)	.	.	0.999981760802075	0.942
18	22028149	T	A	18	24448185	y	y	splicing	IMPACT(NM_018439:exon9:c.759+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.759+2T>A;ENST00000581278:exon1:c.45+2T>A)	.	.	0.999989917668626	0.924
18	22028149	T	C	18	24448185	y	y	splicing	IMPACT(NM_018439:exon9:c.759+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.759+2T>C;ENST00000581278:exon1:c.45+2T>C)	.	.	0.98775897946918	0.636
18	22028149	T	G	18	24448185	y	y	splicing	IMPACT(NM_018439:exon9:c.759+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon9:c.759+2T>G;ENST00000581278:exon1:c.45+2T>G)	.	.	0.999989917668626	0.926
18	22028150	A	C	18	24448186	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99327882792655	0.696
18	22028150	A	G	18	24448186	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.173281795202583	0.478
18	22028150	A	T	18	24448186	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.984411056820517	0.678
18	22028151	G	A	18	24448187	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.07829401580038E-4	0.042
18	22028151	G	C	18	24448187	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.07593211611123E-4	0.114
18	22028151	G	T	18	24448187	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.55767343258247E-5	0.05
18	22028152	G	A	18	24448188	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.996497916158075	0.792
18	22028152	G	C	18	24448188	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999849308576359	0.868
18	22028152	G	T	18	24448188	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998933054707738	0.808
18	22028153	T	A	18	24448189	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00104791126188467	0.024
18	22028153	T	C	18	24448189	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.65533182135192E-4	0.042
18	22028153	T	G	18	24448189	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00321473649997733	0.034
18	22028154	G	A	18	24448190	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.92467065158825E-5	0.0
18	22028154	G	C	18	24448190	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.92467065158825E-5	0.0
18	22028154	G	T	18	24448190	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.13182954122872E-5	0.0
18	22028155	T	A	18	24448191	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.32134825298437E-4	0.002
18	22028155	T	C	18	24448191	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.87167254995918E-4	0.02
18	22028155	T	G	18	24448191	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.92932063867138E-4	0.01
18	22029771	A	C	18	24449807	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	8.18684982110217E-5	0.04
18	22029771	A	G	18	24449807	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00380390926922324	0.058
18	22029771	A	T	18	24449807	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.20054090535562E-4	0.162
18	22029772	A	C	18	24449808	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.34528270335547E-5	0.092
18	22029772	A	G	18	24449808	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.991578797613513	0.894
18	22029772	A	T	18	24449808	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.85988721072992E-4	0.1
18	22029773	A	C	18	24449809	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	4.89616933654485E-5	0.08
18	22029773	A	G	18	24449809	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999537788005808	0.94
18	22029773	A	T	18	24449809	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.91479332869695E-4	0.11
18	22029774	A	C	18	24449810	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.558052475866531	0.516
18	22029774	A	G	18	24449810	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999860093595513	0.932
18	22029774	A	T	18	24449810	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.618084567715378	0.578
18	22029775	A	C	18	24449811	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.17371280208695E-4	0.094
18	22029775	A	G	18	24449811	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998943647887933	0.934
18	22029775	A	T	18	24449811	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.33014708408609E-4	0.096
18	22029776	A	C	18	24449812	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00251350744562571	0.042
18	22029776	A	G	18	24449812	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999486811134992	0.86
18	22029776	A	T	18	24449812	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0015383545044249	0.056
18	22029777	T	A	18	24449813	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.479925736899052	0.664
18	22029777	T	C	18	24449813	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.57720146826074E-4	0.076
18	22029777	T	G	18	24449813	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999385917265975	0.912
18	22029778	A	C	18	24449814	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.68668550738529E-5	0.01
18	22029778	A	G	18	24449814	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	2.09613297194948E-4	0.006
18	22029778	A	T	18	24449814	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.36425307929385E-4	0.058
18	22029779	A	C	18	24449815	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	7.47151322483088E-4	0.046
18	22029779	A	G	18	24449815	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.9966202104806	0.928
18	22029779	A	T	18	24449815	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.42504804529256E-4	0.062
18	22029780	C	A	18	24449816	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99994528082809	0.884
18	22029780	C	G	18	24449816	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999897027500956	0.892
18	22029780	C	T	18	24449816	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.757395740742531	0.606
18	22029781	A	C	18	24449817	y	y	splicing	IMPACT(NM_018439:exon10:c.760-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.760-2A>C;ENST00000581278:exon2:c.46-2A>C)	.	.	0.999933834912627	0.868
18	22029781	A	G	18	24449817	y	y	splicing	IMPACT(NM_018439:exon10:c.760-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.760-2A>G;ENST00000581278:exon2:c.46-2A>G)	.	.	0.999933834912627	0.868
18	22029781	A	T	18	24449817	y	y	splicing	IMPACT(NM_018439:exon10:c.760-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.760-2A>T;ENST00000581278:exon2:c.46-2A>T)	.	.	0.999933834912627	0.868
18	22029782	G	A	18	24449818	y	y	splicing	IMPACT(NM_018439:exon10:c.760-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.760-1G>A;ENST00000581278:exon2:c.46-1G>A)	.	.	0.999980697831002	0.862
18	22029782	G	C	18	24449818	y	y	splicing	IMPACT(NM_018439:exon10:c.760-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.760-1G>C;ENST00000581278:exon2:c.46-1G>C)	.	.	0.999980697831002	0.86
18	22029782	G	T	18	24449818	y	y	splicing	IMPACT(NM_018439:exon10:c.760-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.760-1G>T;ENST00000581278:exon2:c.46-1G>T)	.	.	0.999980697831002	0.862
18	22029783	A	C	18	24449819	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.A760C:p.I254L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.A760C:p.I254L;ENSG00000154059:ENST00000581278:exon2:c.A46C:p.I16L;	0.464113136230336	0.43
18	22029783	A	G	18	24449819	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.A760G:p.I254V;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.A760G:p.I254V;ENSG00000154059:ENST00000581278:exon2:c.A46G:p.I16V;	0.0142234556412251	0.338
18	22029783	A	T	18	24449819	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.A760T:p.I254F;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.A760T:p.I254F;ENSG00000154059:ENST00000581278:exon2:c.A46T:p.I16F;	0.621551015088791	0.414
18	22029784	T	A	18	24449820	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.T761A:p.I254N;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.T761A:p.I254N;ENSG00000154059:ENST00000581278:exon2:c.T47A:p.I16N;	0.186340089621094	0.41
18	22029784	T	C	18	24449820	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.T761C:p.I254T;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.T761C:p.I254T;ENSG00000154059:ENST00000581278:exon2:c.T47C:p.I16T;	0.107639738615817	0.35
18	22029784	T	G	18	24449820	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.T761G:p.I254S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.T761G:p.I254S;ENSG00000154059:ENST00000581278:exon2:c.T47G:p.I16S;	0.13523132608537	0.396
18	22029915	C	A	18	24449951	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.C892A:p.P298T;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.C892A:p.P298T;ENSG00000154059:ENST00000581278:exon2:c.C178A:p.P60T;	0.906323639603636	0.68
18	22029915	C	G	18	24449951	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.C892G:p.P298A;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.C892G:p.P298A;ENSG00000154059:ENST00000581278:exon2:c.C178G:p.P60A;	0.919266308548565	0.616
18	22029915	C	T	18	24449951	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.C892T:p.P298S;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.C892T:p.P298S;ENSG00000154059:ENST00000581278:exon2:c.C178T:p.P60S;	0.999073737245039	0.758
18	22029916	C	A	18	24449952	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.C893A:p.P298H;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.C893A:p.P298H;ENSG00000154059:ENST00000581278:exon2:c.C179A:p.P60H;	0.332114200018388	0.414
18	22029916	C	G	18	24449952	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.C893G:p.P298R;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.C893G:p.P298R;ENSG00000154059:ENST00000581278:exon2:c.C179G:p.P60R;	0.513244676166813	0.514
18	22029916	C	T	18	24449952	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon10:c.C893T:p.P298L;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.C893T:p.P298L;ENSG00000154059:ENST00000581278:exon2:c.C179T:p.P60L;	0.235919589440389	0.484
18	22029917	T	A	18	24449953	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon10:c.T894A:p.P298P;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.T894A:p.P298P;ENSG00000154059:ENST00000581278:exon2:c.T180A:p.P60P;	3.29219493780998E-5	0.14
18	22029917	T	C	18	24449953	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon10:c.T894C:p.P298P;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.T894C:p.P298P;ENSG00000154059:ENST00000581278:exon2:c.T180C:p.P60P;	1.98769429194698E-4	0.252
18	22029917	T	G	18	24449953	y	y	exonic	IMPACT	synonymous SNV	IMPACT:NM_018439:exon10:c.T894G:p.P298P;	exonic	ENSG00000154059	synonymous SNV	ENSG00000154059:ENST00000284202:exon10:c.T894G:p.P298P;ENSG00000154059:ENST00000581278:exon2:c.T180G:p.P60P;	2.37857985089632E-5	0.13
18	22029918	G	A	18	24449954	y	y	splicing	IMPACT(NM_018439:exon10:c.894+1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.894+1G>A;ENST00000581278:exon2:c.180+1G>A)	.	.	0.999990361384395	0.938
18	22029918	G	C	18	24449954	y	y	splicing	IMPACT(NM_018439:exon10:c.894+1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.894+1G>C;ENST00000581278:exon2:c.180+1G>C)	.	.	0.999990361384395	0.938
18	22029918	G	T	18	24449954	y	y	splicing	IMPACT(NM_018439:exon10:c.894+1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.894+1G>T;ENST00000581278:exon2:c.180+1G>T)	.	.	0.999990361384395	0.938
18	22029919	T	A	18	24449955	y	y	splicing	IMPACT(NM_018439:exon10:c.894+2T>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.894+2T>A;ENST00000581278:exon2:c.180+2T>A)	.	.	0.999988247793601	0.932
18	22029919	T	C	18	24449955	y	y	splicing	IMPACT(NM_018439:exon10:c.894+2T>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.894+2T>C;ENST00000581278:exon2:c.180+2T>C)	.	.	0.995320650369382	0.694
18	22029919	T	G	18	24449955	y	y	splicing	IMPACT(NM_018439:exon10:c.894+2T>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon10:c.894+2T>G;ENST00000581278:exon2:c.180+2T>G)	.	.	0.999988247793601	0.932
18	22029920	A	C	18	24449956	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999756696839216	0.854
18	22029920	A	G	18	24449956	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0310089063545336	0.214
18	22029920	A	T	18	24449956	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99982853865801	0.868
18	22029921	A	C	18	24449957	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999702234967838	0.958
18	22029921	A	G	18	24449957	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999734373235826	0.982
18	22029921	A	T	18	24449957	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999633270099636	0.96
18	22029922	G	A	18	24449958	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999965000002604	1.0
18	22029922	G	C	18	24449958	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99998305117106	0.922
18	22029922	G	T	18	24449958	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.999960320822447	0.978
18	22029923	T	A	18	24449959	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.981809252643532	0.77
18	22029923	T	C	18	24449959	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.986009773419833	0.864
18	22029923	T	G	18	24449959	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.964128455344527	0.798
18	22029924	G	A	18	24449960	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.2649141439946E-4	0.0
18	22029924	G	C	18	24449960	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.13459779907235E-5	0.0
18	22029924	G	T	18	24449960	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.14843707488682E-5	0.0
18	22029925	G	A	18	24449961	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	9.59028848257884E-5	0.0
18	22029925	G	C	18	24449961	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	6.74645592494213E-5	0.0
18	22029925	G	T	18	24449961	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.31794876667892E-4	0.0
18	22030731	T	A	18	24450767	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.99984010971552	0.956
18	22030731	T	C	18	24450767	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.94164411476724E-4	0.028
18	22030731	T	G	18	24450767	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.769672957034498	0.56
18	22030732	G	A	18	24450768	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	3.49323811510506E-5	0.034
18	22030732	G	C	18	24450768	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.34992859442991E-5	0.05
18	22030732	G	T	18	24450768	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.09135662816743E-5	0.058
18	22030733	T	A	18	24450769	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998559395232231	0.924
18	22030733	T	C	18	24450769	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.355866896350267	0.526
18	22030733	T	G	18	24450769	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998414876038377	0.912
18	22030734	C	A	18	24450770	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00544415669574563	0.18
18	22030734	C	G	18	24450770	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00132861466525167	0.03
18	22030734	C	T	18	24450770	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0233061896703039	0.162
18	22030735	T	A	18	24450771	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.950253226452713	0.624
18	22030735	T	C	18	24450771	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00699524600204937	0.184
18	22030735	T	G	18	24450771	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.736222938458179	0.402
18	22030736	T	A	18	24450772	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0277338149842179	0.314
18	22030736	T	C	18	24450772	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.32920496232582E-4	0.004
18	22030736	T	G	18	24450772	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0552474396923562	0.25
18	22030737	T	A	18	24450773	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.994935635492984	0.77
18	22030737	T	C	18	24450773	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.0203484658313979	0.274
18	22030737	T	G	18	24450773	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.991639946849286	0.798
18	22030738	T	A	18	24450774	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.998518220845034	0.918
18	22030738	T	C	18	24450774	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.564243352447384	0.46
18	22030738	T	G	18	24450774	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.997994450634843	0.918
18	22030739	T	A	18	24450775	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	5.01122196812019E-4	0.004
18	22030739	T	C	18	24450775	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.0946145670241E-4	0.006
18	22030739	T	G	18	24450775	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	1.12242420351882E-4	0.02
18	22030740	C	A	18	24450776	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.706170326623936	0.508
18	22030740	C	G	18	24450776	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.996626737720234	0.866
18	22030740	C	T	18	24450776	y	y	intronic	IMPACT	.	.	intronic	ENSG00000154059	.	.	0.00366403702306206	0.032
18	22030741	A	C	18	24450777	y	y	splicing	IMPACT(NM_018439:exon11:c.895-2A>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon11:c.895-2A>C;ENST00000581278:exon3:c.181-2A>C)	.	.	0.999955107838025	0.924
18	22030741	A	G	18	24450777	y	y	splicing	IMPACT(NM_018439:exon11:c.895-2A>G)	.	.	splicing	ENSG00000154059(ENST00000284202:exon11:c.895-2A>G;ENST00000581278:exon3:c.181-2A>G)	.	.	0.999955107838025	0.924
18	22030741	A	T	18	24450777	y	y	splicing	IMPACT(NM_018439:exon11:c.895-2A>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon11:c.895-2A>T;ENST00000581278:exon3:c.181-2A>T)	.	.	0.999955107838025	0.92
18	22030742	G	A	18	24450778	y	y	splicing	IMPACT(NM_018439:exon11:c.895-1G>A)	.	.	splicing	ENSG00000154059(ENST00000284202:exon11:c.895-1G>A;ENST00000581278:exon3:c.181-1G>A)	.	.	0.999968560109063	0.932
18	22030742	G	C	18	24450778	y	y	splicing	IMPACT(NM_018439:exon11:c.895-1G>C)	.	.	splicing	ENSG00000154059(ENST00000284202:exon11:c.895-1G>C;ENST00000581278:exon3:c.181-1G>C)	.	.	0.999968560109063	0.936
18	22030742	G	T	18	24450778	y	y	splicing	IMPACT(NM_018439:exon11:c.895-1G>T)	.	.	splicing	ENSG00000154059(ENST00000284202:exon11:c.895-1G>T;ENST00000581278:exon3:c.181-1G>T)	.	.	0.999968560109063	0.934
18	22030743	G	A	18	24450779	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon11:c.G895A:p.E299K;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon11:c.G895A:p.E299K;ENSG00000154059:ENST00000581278:exon3:c.G181A:p.E61K;	0.997469513658142	0.762
18	22030743	G	C	18	24450779	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon11:c.G895C:p.E299Q;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon11:c.G895C:p.E299Q;ENSG00000154059:ENST00000581278:exon3:c.G181C:p.E61Q;	0.978168233549892	0.786
18	22030743	G	T	18	24450779	y	y	exonic	IMPACT	stopgain SNV	IMPACT:NM_018439:exon11:c.G895T:p.E299X;	exonic	ENSG00000154059	stopgain SNV	ENSG00000154059:ENST00000284202:exon11:c.G895T:p.E299X;ENSG00000154059:ENST00000581278:exon3:c.G181T:p.E61X;	0.99955298192724	0.998
18	22030744	A	C	18	24450780	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon11:c.A896C:p.E299A;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon11:c.A896C:p.E299A;ENSG00000154059:ENST00000581278:exon3:c.A182C:p.E61A;	0.00795982224167466	0.06
18	22030744	A	G	18	24450780	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon11:c.A896G:p.E299G;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon11:c.A896G:p.E299G;ENSG00000154059:ENST00000581278:exon3:c.A182G:p.E61G;	0.00830517346033278	0.032
18	22030744	A	T	18	24450780	y	y	exonic	IMPACT	nonsynonymous SNV	IMPACT:NM_018439:exon11:c.A896T:p.E299V;	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000284202:exon11:c.A896T:p.E299V;ENSG00000154059:ENST00000581278:exon3:c.A182T:p.E61V;	0.00222814387598384	0.028
18	22030829	A	C	18	24450865	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.91285012458584E-4	0.008
18	22030829	A	G	18	24450865	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.91285012458584E-4	0.008
18	22030829	A	T	18	24450865	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.30819145506541E-4	0.002
18	22030830	A	C	18	24450866	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.91285012458584E-4	0.006
18	22030830	A	G	18	24450866	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.91285012458584E-4	0.006
18	22030830	A	T	18	24450866	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.30819145506541E-4	0.006
18	22030831	G	A	18	24450867	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.00206015562593978	0.116
18	22030831	G	C	18	24450867	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.00139308286084247	0.11
18	22030831	G	T	18	24450867	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.00139308286084247	0.124
18	22030832	G	A	18	24450868	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon1:c.75+1G>A)	.	.	2.31080543285591E-4	0.008
18	22030832	G	C	18	24450868	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon1:c.75+1G>C)	.	.	1.17219021815175E-4	0.016
18	22030832	G	T	18	24450868	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon1:c.75+1G>T)	.	.	2.09230202059545E-4	0.01
18	22030833	T	A	18	24450869	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon1:c.75+2T>A)	.	.	1.15928322694241E-4	0.002
18	22030833	T	C	18	24450869	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon1:c.75+2T>C)	.	.	1.51591174045998E-4	0.006
18	22030833	T	G	18	24450869	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon1:c.75+2T>G)	.	.	1.51591174045998E-4	0.008
18	22030834	T	A	18	24450870	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.91285012458584E-4	0.008
18	22030834	T	C	18	24450870	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.63915916572906E-4	0.006
18	22030834	T	G	18	24450870	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.63915916572906E-4	0.004
18	22030835	A	C	18	24450871	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.51591174045998E-4	0.008
18	22030835	A	G	18	24450871	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.51591174045998E-4	0.012
18	22030835	A	T	18	24450871	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.50014361262222E-4	0.014
18	22030836	A	C	18	24450872	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.63915916572906E-4	0.004
18	22030836	A	G	18	24450872	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.63915916572906E-4	0.004
18	22030836	A	T	18	24450872	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.91285012458584E-4	0.008
18	22030837	T	A	18	24450873	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.33950268484782E-4	0.002
18	22030837	T	C	18	24450873	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.73401366462724E-4	0.002
18	22030837	T	G	18	24450873	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.73401366462724E-4	0.002
18	22030838	T	A	18	24450874	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.00961143325455E-4	0.006
18	22030838	T	C	18	24450874	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.44101454748109E-4	0.004
18	22030838	T	G	18	24450874	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.44101454748109E-4	0.004
18	22030839	T	A	18	24450875	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.64601662118971E-4	0.012
18	22030839	T	C	18	24450875	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.1861903910912E-4	0.012
18	22030839	T	G	18	24450875	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.1861903910912E-4	0.012
18	22031313	T	A	18	24451349	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	7.91335385279169E-4	0.006
18	22031313	T	C	18	24451349	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	7.91335385279169E-4	0.0
18	22031313	T	G	18	24451349	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	7.91335385279169E-4	0.0
18	22031314	T	A	18	24451350	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.3812347624156E-4	0.02
18	22031314	T	C	18	24451350	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.73799290324264E-4	0.02
18	22031314	T	G	18	24451350	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.73799290324264E-4	0.02
18	22031315	C	A	18	24451351	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.0450125029976803	0.176
18	22031315	C	G	18	24451351	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.0377581666167758	0.1
18	22031315	C	T	18	24451351	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.0689826410981017	0.198
18	22031316	A	C	18	24451352	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.44958268314859E-4	0.008
18	22031316	A	G	18	24451352	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.44958268314859E-4	0.008
18	22031316	A	T	18	24451352	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	4.57904187576597E-4	0.01
18	22031317	T	A	18	24451353	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.00829003674465697	0.026
18	22031317	T	C	18	24451353	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.00795678801987447	0.026
18	22031317	T	G	18	24451353	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	0.00795678801987447	0.026
18	22031318	T	A	18	24451354	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.77330771774935E-4	0.002
18	22031318	T	C	18	24451354	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.46226529156369E-4	0.002
18	22031318	T	G	18	24451354	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.32658667526046E-4	0.002
18	22031319	T	A	18	24451355	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.16080636402324E-4	0.0
18	22031319	T	C	18	24451355	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	9.20280983578417E-5	0.0
18	22031319	T	G	18	24451355	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	9.20280983578417E-5	0.0
18	22031320	T	A	18	24451356	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.16080636402324E-4	0.0
18	22031320	T	C	18	24451356	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	9.20280983578417E-5	0.0
18	22031320	T	G	18	24451356	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	9.20280983578417E-5	0.0
18	22031321	A	C	18	24451357	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.46226529156369E-4	0.006
18	22031321	A	G	18	24451357	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.46226529156369E-4	0.006
18	22031321	A	T	18	24451357	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.32658667526046E-4	0.002
18	22031322	T	A	18	24451358	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	8.89371736124219E-4	0.0
18	22031322	T	C	18	24451358	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	9.80257671126134E-4	0.002
18	22031322	T	G	18	24451358	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	9.80257671126134E-4	0.002
18	22031323	A	C	18	24451359	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.76-2A>C)	.	.	0.00405662573513608	0.088
18	22031323	A	G	18	24451359	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.76-2A>G)	.	.	0.00220285109689569	0.084
18	22031323	A	T	18	24451359	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.76-2A>T)	.	.	0.0069180409540431	0.05
18	22031324	G	A	18	24451360	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.76-1G>A)	.	.	1.44682472353823E-4	0.0
18	22031324	G	C	18	24451360	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.76-1G>C)	.	.	1.05309614883202E-4	0.002
18	22031324	G	T	18	24451360	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.76-1G>T)	.	.	1.05309614883202E-4	0.0
18	22031325	T	A	18	24451361	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.05309614883202E-4	0.0
18	22031325	T	C	18	24451361	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.16080636402324E-4	0.002
18	22031325	T	G	18	24451361	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.16080636402324E-4	0.0
18	22031326	G	A	18	24451362	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.20688792087982E-4	0.006
18	22031326	G	C	18	24451362	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.03419571978315E-4	0.014
18	22031326	G	T	18	24451362	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.41539715814869E-4	0.014
18	22031387	G	A	18	24451423	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.21318080027979E-4	0.002
18	22031387	G	C	18	24451423	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.77393242279274E-4	0.004
18	22031387	G	T	18	24451423	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.21318080027979E-4	0.004
18	22031388	A	C	18	24451424	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.04375917686578E-4	0.01
18	22031388	A	G	18	24451424	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.04375917686578E-4	0.01
18	22031388	A	T	18	24451424	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.70806772336452E-4	0.01
18	22031389	G	A	18	24451425	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.84864190955455E-4	0.0
18	22031389	G	C	18	24451425	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.31865272723757E-4	0.0
18	22031389	G	T	18	24451425	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.31865272723757E-4	0.0
18	22031390	G	A	18	24451426	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.140+1G>A)	.	.	1.41231753311375E-4	0.004
18	22031390	G	C	18	24451426	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.140+1G>C)	.	.	1.41231753311375E-4	0.002
18	22031390	G	T	18	24451426	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.140+1G>T)	.	.	1.41231753311375E-4	0.002
18	22031391	T	A	18	24451427	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.140+2T>A)	.	.	0.0775102055053802	0.524
18	22031391	T	C	18	24451427	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.140+2T>C)	.	.	0.0743476085724079	0.476
18	22031391	T	G	18	24451427	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000580035:exon2:c.140+2T>G)	.	.	0.0775102055053802	0.478
18	22031392	G	A	18	24451428	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	8.8551835119743E-4	0.01
18	22031392	G	C	18	24451428	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	5.04412619206908E-4	0.022
18	22031392	G	T	18	24451428	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	6.5779928443876E-4	0.014
18	22031393	A	C	18	24451429	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.33950268484782E-4	0.002
18	22031393	A	G	18	24451429	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.33950268484782E-4	0.004
18	22031393	A	T	18	24451429	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.63915916572906E-4	0.004
18	22031394	T	A	18	24451430	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.63626172479922E-4	0.034
18	22031394	T	C	18	24451430	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.39252134329056E-4	0.006
18	22031394	T	G	18	24451430	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.39252134329056E-4	0.006
18	22031395	A	C	18	24451431	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.25919551743448E-4	0.038
18	22031395	A	G	18	24451431	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.7099992604428E-4	0.008
18	22031395	A	T	18	24451431	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.21364670957993E-4	0.006
18	22031396	A	C	18	24451432	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.39252134329056E-4	0.01
18	22031396	A	G	18	24451432	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.39252134329056E-4	0.01
18	22031396	A	T	18	24451432	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.39252134329056E-4	0.024
18	22031397	T	A	18	24451433	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.7431621660177E-4	0.018
18	22031397	T	C	18	24451433	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.15324817755151E-4	0.012
18	22031397	T	G	18	24451433	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.15324817755151E-4	0.012
18	22033102	T	A	18	24453138	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.15849948155271E-5	0.0
18	22033102	T	C	18	24453138	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.15849948155271E-5	0.0
18	22033102	T	G	18	24453138	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.15849948155271E-5	0.0
18	22033103	C	A	18	24453139	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.48755215904918E-5	0.018
18	22033103	C	G	18	24453139	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.48755215904918E-5	0.018
18	22033103	C	T	18	24453139	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.48755215904918E-5	0.018
18	22033104	T	A	18	24453140	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.99153316237132E-5	0.002
18	22033104	T	C	18	24453140	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.99153316237132E-5	0.002
18	22033104	T	G	18	24453140	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.99153316237132E-5	0.002
18	22033105	A	C	18	24453141	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.42901961887926E-5	0.102
18	22033105	A	G	18	24453141	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.42901961887926E-5	0.098
18	22033105	A	T	18	24453141	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.7519575763743E-5	0.084
18	22033106	C	A	18	24453142	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.70552093357571E-5	0.016
18	22033106	C	G	18	24453142	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.53263772139662E-5	0.016
18	22033106	C	T	18	24453142	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.70552093357571E-5	0.016
18	22033107	T	A	18	24453143	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.60658872104539E-4	0.028
18	22033107	T	C	18	24453143	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.60658872104539E-4	0.028
18	22033107	T	G	18	24453143	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	3.60658872104539E-4	0.028
18	22033108	T	A	18	24453144	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.66254380649332E-5	0.002
18	22033108	T	C	18	24453144	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.58497535738953E-5	0.004
18	22033108	T	G	18	24453144	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.58497535738953E-5	0.004
18	22033109	T	A	18	24453145	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.36188765766749E-5	0.016
18	22033109	T	C	18	24453145	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.48992201024638E-5	0.016
18	22033109	T	G	18	24453145	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.48992201024638E-5	0.016
18	22033110	T	A	18	24453146	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.63826472300415E-5	0.002
18	22033110	T	C	18	24453146	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.99521185273121E-5	0.002
18	22033110	T	G	18	24453146	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	2.99521185273121E-5	0.002
18	22033111	T	A	18	24453147	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.39471642151905E-5	0.0
18	22033111	T	C	18	24453147	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.39471642151905E-5	0.002
18	22033111	T	G	18	24453147	n	y	UTR3	IMPACT	.	.	UTR3	ENSG00000154059	.	.	1.39471642151905E-5	0.002
18	22033112	A	C	18	24453148	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000581278:exon4:c.217-2A>C;ENST00000580035:exon3:c.141-2A>C)	.	.	4.0322400269078E-5	0.09
18	22033112	A	G	18	24453148	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000581278:exon4:c.217-2A>G;ENST00000580035:exon3:c.141-2A>G)	.	.	4.0322400269078E-5	0.09
18	22033112	A	T	18	24453148	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000581278:exon4:c.217-2A>T;ENST00000580035:exon3:c.141-2A>T)	.	.	4.0322400269078E-5	0.09
18	22033113	G	A	18	24453149	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000581278:exon4:c.217-1G>A;ENST00000580035:exon3:c.141-1G>A)	.	.	2.15860849494497E-5	0.01
18	22033113	G	C	18	24453149	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000581278:exon4:c.217-1G>C;ENST00000580035:exon3:c.141-1G>C)	.	.	2.15860849494497E-5	0.01
18	22033113	G	T	18	24453149	n	y	UTR3	IMPACT	.	.	splicing	ENSG00000154059(ENST00000581278:exon4:c.217-1G>T;ENST00000580035:exon3:c.141-1G>T)	.	.	2.15860849494497E-5	0.01
18	22033114	A	C	18	24453150	n	y	UTR3	IMPACT	.	.	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000581278:exon4:c.A217C:p.M73L;	2.13105871323179E-5	0.004
18	22033114	A	G	18	24453150	n	y	UTR3	IMPACT	.	.	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000581278:exon4:c.A217G:p.M73V;	2.03163144981675E-5	0.004
18	22033114	A	T	18	24453150	n	y	UTR3	IMPACT	.	.	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000581278:exon4:c.A217T:p.M73L;	2.13105871323179E-5	0.004
18	22033115	T	A	18	24453151	n	y	UTR3	IMPACT	.	.	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000581278:exon4:c.T218A:p.M73K;	4.06254614081771E-5	0.042
18	22033115	T	C	18	24453151	n	y	UTR3	IMPACT	.	.	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000581278:exon4:c.T218C:p.M73T;	7.42733567239491E-5	0.04
18	22033115	T	G	18	24453151	n	y	UTR3	IMPACT	.	.	exonic	ENSG00000154059	nonsynonymous SNV	ENSG00000154059:ENST00000581278:exon4:c.T218G:p.M73R;	7.42733567239491E-5	0.042
18	22040883	T	A	18	24460919	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001143828:exon1:c.T191A:p.V64E;HRH4:NM_001160166:exon1:c.T191A:p.V64E;HRH4:NM_021624:exon1:c.T191A:p.V64E;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.T191A:p.V64E;ENSG00000134489:ENST00000426880:exon1:c.T191A:p.V64E;	0.52157707991123	0.698
18	22040883	T	C	18	24460919	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001143828:exon1:c.T191C:p.V64A;HRH4:NM_001160166:exon1:c.T191C:p.V64A;HRH4:NM_021624:exon1:c.T191C:p.V64A;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.T191C:p.V64A;ENSG00000134489:ENST00000426880:exon1:c.T191C:p.V64A;	0.52157707991123	0.652
18	22040883	T	G	18	24460919	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001143828:exon1:c.T191G:p.V64G;HRH4:NM_001160166:exon1:c.T191G:p.V64G;HRH4:NM_021624:exon1:c.T191G:p.V64G;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.T191G:p.V64G;ENSG00000134489:ENST00000426880:exon1:c.T191G:p.V64G;	0.654324323211264	0.694
18	22040884	G	A	18	24460920	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_001143828:exon1:c.G192A:p.V64V;HRH4:NM_001160166:exon1:c.G192A:p.V64V;HRH4:NM_021624:exon1:c.G192A:p.V64V;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.G192A:p.V64V;ENSG00000134489:ENST00000426880:exon1:c.G192A:p.V64V;	0.00585046520739098	0.146
18	22040884	G	C	18	24460920	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_001143828:exon1:c.G192C:p.V64V;HRH4:NM_001160166:exon1:c.G192C:p.V64V;HRH4:NM_021624:exon1:c.G192C:p.V64V;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.G192C:p.V64V;ENSG00000134489:ENST00000426880:exon1:c.G192C:p.V64V;	0.0034714079176843	0.036
18	22040884	G	T	18	24460920	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_001143828:exon1:c.G192T:p.V64V;HRH4:NM_001160166:exon1:c.G192T:p.V64V;HRH4:NM_021624:exon1:c.G192T:p.V64V;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.G192T:p.V64V;ENSG00000134489:ENST00000426880:exon1:c.G192T:p.V64V;	0.00606298954798246	0.066
18	22040885	G	A	18	24460921	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001143828:exon1:c.G193A:p.V65I;HRH4:NM_001160166:exon1:c.G193A:p.G65S;HRH4:NM_021624:exon1:c.G193A:p.G65S;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.G193A:p.G65S;ENSG00000134489:ENST00000426880:exon1:c.G193A:p.V65I;	0.999964009840775	0.946
18	22040885	G	C	18	24460921	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001143828:exon1:c.G193C:p.V65L;HRH4:NM_001160166:exon1:c.G193C:p.G65R;HRH4:NM_021624:exon1:c.G193C:p.G65R;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.G193C:p.G65R;ENSG00000134489:ENST00000426880:exon1:c.G193C:p.V65L;	0.999924372231492	0.98
18	22040885	G	T	18	24460921	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001143828:exon1:c.G193T:p.V65F;HRH4:NM_001160166:exon1:c.G193T:p.G65C;HRH4:NM_021624:exon1:c.G193T:p.G65C;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon1:c.G193T:p.G65C;ENSG00000134489:ENST00000426880:exon1:c.G193T:p.V65F;	0.99991841901911	0.956
18	22040886	G	A	18	24460922	y	y	splicing	HRH4(NM_001143828:exon1:c.193+1G>A;NM_001160166:exon1:c.193+1G>A;NM_021624:exon1:c.193+1G>A)	.	.	splicing	ENSG00000134489(ENST00000256906:exon1:c.193+1G>A;ENST00000426880:exon1:c.193+1G>A)	.	.	0.999993148181228	0.928
18	22040886	G	C	18	24460922	y	y	splicing	HRH4(NM_001143828:exon1:c.193+1G>C;NM_001160166:exon1:c.193+1G>C;NM_021624:exon1:c.193+1G>C)	.	.	splicing	ENSG00000134489(ENST00000256906:exon1:c.193+1G>C;ENST00000426880:exon1:c.193+1G>C)	.	.	0.999993148181228	0.928
18	22040886	G	T	18	24460922	y	y	splicing	HRH4(NM_001143828:exon1:c.193+1G>T;NM_001160166:exon1:c.193+1G>T;NM_021624:exon1:c.193+1G>T)	.	.	splicing	ENSG00000134489(ENST00000256906:exon1:c.193+1G>T;ENST00000426880:exon1:c.193+1G>T)	.	.	0.999993148181228	0.928
18	22040887	T	A	18	24460923	y	y	splicing	HRH4(NM_001143828:exon1:c.193+2T>A;NM_001160166:exon1:c.193+2T>A;NM_021624:exon1:c.193+2T>A)	.	.	splicing	ENSG00000134489(ENST00000256906:exon1:c.193+2T>A;ENST00000426880:exon1:c.193+2T>A)	.	.	0.999988247793601	0.93
18	22040887	T	C	18	24460923	y	y	splicing	HRH4(NM_001143828:exon1:c.193+2T>C;NM_001160166:exon1:c.193+2T>C;NM_021624:exon1:c.193+2T>C)	.	.	splicing	ENSG00000134489(ENST00000256906:exon1:c.193+2T>C;ENST00000426880:exon1:c.193+2T>C)	.	.	0.992054276455321	0.622
18	22040887	T	G	18	24460923	y	y	splicing	HRH4(NM_001143828:exon1:c.193+2T>G;NM_001160166:exon1:c.193+2T>G;NM_021624:exon1:c.193+2T>G)	.	.	splicing	ENSG00000134489(ENST00000256906:exon1:c.193+2T>G;ENST00000426880:exon1:c.193+2T>G)	.	.	0.999988247793601	0.93
18	22040888	A	C	18	24460924	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.998224676318952	0.97
18	22040888	A	G	18	24460924	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.951839964985917	0.482
18	22040888	A	T	18	24460924	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999441772909856	0.968
18	22040889	A	C	18	24460925	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.998352714826738	0.91
18	22040889	A	G	18	24460925	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999225711431765	0.92
18	22040889	A	T	18	24460925	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.996750170864582	0.854
18	22040890	G	A	18	24460926	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.99750586230585	0.88
18	22040890	G	C	18	24460926	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999254804960473	0.97
18	22040890	G	T	18	24460926	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.998946810857574	0.776
18	22040891	T	A	18	24460927	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.988703280302321	0.678
18	22040891	T	C	18	24460927	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.951584122128122	0.614
18	22040891	T	G	18	24460927	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.983159811617361	0.558
18	22040892	T	A	18	24460928	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	8.90239614768391E-5	0.0
18	22040892	T	C	18	24460928	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	3.31733714878342E-5	0.0
18	22040892	T	G	18	24460928	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	3.31733714878342E-5	0.0
18	22040893	A	C	18	24460929	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.16115785280999E-4	0.006
18	22040893	A	G	18	24460929	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.67828845544223E-4	0.01
18	22040893	A	T	18	24460929	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	8.83451675297981E-5	0.008
18	22048740	T	A	18	24468776	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00640140777227988	0.148
18	22048740	T	C	18	24468776	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	3.2456021356203E-4	0.014
18	22048740	T	G	18	24468776	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00317075646320004	0.088
18	22048741	T	A	18	24468777	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00249938685455661	0.156
18	22048741	T	C	18	24468777	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.56128653159237E-4	0.052
18	22048741	T	G	18	24468777	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.0021126492025165	0.136
18	22048742	C	A	18	24468778	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	3.83701680819338E-4	0.062
18	22048742	C	G	18	24468778	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.94113485675685E-4	0.036
18	22048742	C	T	18	24468778	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.65965658795311E-5	0.0
18	22048743	C	A	18	24468779	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00591016487245154	0.224
18	22048743	C	G	18	24468779	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.0041894647015376	0.152
18	22048743	C	T	18	24468779	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.35916272916849E-4	0.016
18	22048744	C	A	18	24468780	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	6.51903040946958E-4	0.052
18	22048744	C	G	18	24468780	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	4.04978606826439E-4	0.028
18	22048744	C	T	18	24468780	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.55526857595422E-5	0.002
18	22048745	T	A	18	24468781	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999098049536635	0.964
18	22048745	T	C	18	24468781	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	8.02328847896883E-5	0.0
18	22048745	T	G	18	24468781	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.07029909046788E-4	0.056
18	22048746	G	A	18	24468782	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.56245420947496E-4	0.0
18	22048746	G	C	18	24468782	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	9.92854231278734E-5	0.012
18	22048746	G	T	18	24468782	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	8.93122219523525E-5	0.002
18	22048747	T	A	18	24468783	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.994010308046017	0.716
18	22048747	T	C	18	24468783	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	4.35629964029573E-4	0.014
18	22048747	T	G	18	24468783	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00566398096991629	0.154
18	22048748	G	A	18	24468784	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.18661223091123E-4	0.004
18	22048748	G	C	18	24468784	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	6.72377151333299E-5	0.004
18	22048748	G	T	18	24468784	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.18661223091123E-4	0.0
18	22048749	C	A	18	24468785	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.921695749528644	0.692
18	22048749	C	G	18	24468785	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999801708673774	0.928
18	22048749	C	T	18	24468785	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.0211326819063134	0.084
18	22048750	A	C	18	24468786	y	y	splicing	HRH4(NM_021624:exon2:c.194-2A>C)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.194-2A>C)	.	.	0.999988247793601	0.928
18	22048750	A	G	18	24468786	y	y	splicing	HRH4(NM_021624:exon2:c.194-2A>G)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.194-2A>G)	.	.	0.999988247793601	0.928
18	22048750	A	T	18	24468786	y	y	splicing	HRH4(NM_021624:exon2:c.194-2A>T)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.194-2A>T)	.	.	0.999988247793601	0.928
18	22048751	G	A	18	24468787	y	y	splicing	HRH4(NM_021624:exon2:c.194-1G>A)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.194-1G>A)	.	.	0.999985532734767	0.936
18	22048751	G	C	18	24468787	y	y	splicing	HRH4(NM_021624:exon2:c.194-1G>C)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.194-1G>C)	.	.	0.999985532734767	0.936
18	22048751	G	T	18	24468787	y	y	splicing	HRH4(NM_021624:exon2:c.194-1G>T)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.194-1G>T)	.	.	0.999985532734767	0.936
18	22048752	G	A	18	24468788	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.G194A:p.G65D;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.G194A:p.G65D;	0.998211472297074	0.848
18	22048752	G	C	18	24468788	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.G194C:p.G65A;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.G194C:p.G65A;	0.999645991183339	0.98
18	22048752	G	T	18	24468788	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.G194T:p.G65V;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.G194T:p.G65V;	0.999805816146958	0.994
18	22048753	T	A	18	24468789	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_021624:exon2:c.T195A:p.G65G;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.T195A:p.G65G;	0.00849043227919043	0.08
18	22048753	T	C	18	24468789	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_021624:exon2:c.T195C:p.G65G;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.T195C:p.G65G;	0.00143752148303661	0.062
18	22048753	T	G	18	24468789	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_021624:exon2:c.T195G:p.G65G;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.T195G:p.G65G;	0.00353535659444319	0.172
18	22048913	G	A	18	24468949	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.G355A:p.A119T;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.G355A:p.A119T;	0.944175308896925	0.78
18	22048913	G	C	18	24468949	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.G355C:p.A119P;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.G355C:p.A119P;	0.948624757695146	0.72
18	22048913	G	T	18	24468949	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.G355T:p.A119S;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.G355T:p.A119S;	0.994251353793934	0.89
18	22048914	C	A	18	24468950	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.C356A:p.A119D;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.C356A:p.A119D;	0.949547967704446	0.716
18	22048914	C	G	18	24468950	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.C356G:p.A119G;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.C356G:p.A119G;	0.984437200995036	0.914
18	22048914	C	T	18	24468950	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon2:c.C356T:p.A119V;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.C356T:p.A119V;	0.993748542522074	0.89
18	22048915	T	A	18	24468951	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_021624:exon2:c.T357A:p.A119A;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.T357A:p.A119A;	1.01333203228044E-4	0.002
18	22048915	T	C	18	24468951	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_021624:exon2:c.T357C:p.A119A;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.T357C:p.A119A;	0.00149537114800837	0.156
18	22048915	T	G	18	24468951	y	y	exonic	HRH4	synonymous SNV	HRH4:NM_021624:exon2:c.T357G:p.A119A;	exonic	ENSG00000134489	synonymous SNV	ENSG00000134489:ENST00000256906:exon2:c.T357G:p.A119A;	1.82531535510084E-4	0.068
18	22048916	G	A	18	24468952	y	y	splicing	HRH4(NM_021624:exon2:c.357+1G>A)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.357+1G>A)	.	.	0.999985532734767	0.936
18	22048916	G	C	18	24468952	y	y	splicing	HRH4(NM_021624:exon2:c.357+1G>C)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.357+1G>C)	.	.	0.999985532734767	0.936
18	22048916	G	T	18	24468952	y	y	splicing	HRH4(NM_021624:exon2:c.357+1G>T)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.357+1G>T)	.	.	0.999985532734767	0.936
18	22048917	T	A	18	24468953	y	y	splicing	HRH4(NM_021624:exon2:c.357+2T>A)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.357+2T>A)	.	.	0.999988247793601	0.928
18	22048917	T	C	18	24468953	y	y	splicing	HRH4(NM_021624:exon2:c.357+2T>C)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.357+2T>C)	.	.	0.99340600729494	0.632
18	22048917	T	G	18	24468953	y	y	splicing	HRH4(NM_021624:exon2:c.357+2T>G)	.	.	splicing	ENSG00000134489(ENST00000256906:exon2:c.357+2T>G)	.	.	0.999988247793601	0.928
18	22048918	A	C	18	24468954	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999684000378506	0.94
18	22048918	A	G	18	24468954	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.606018935743894	0.418
18	22048918	A	T	18	24468954	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.99972125565525	0.978
18	22048919	A	C	18	24468955	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999030009396469	0.894
18	22048919	A	G	18	24468955	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.99752320785906	0.954
18	22048919	A	T	18	24468955	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.99835562218343	0.952
18	22048920	G	A	18	24468956	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999977925181039	0.996
18	22048920	G	C	18	24468956	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999887131730883	0.9
18	22048920	G	T	18	24468956	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999968156488072	0.982
18	22048921	T	A	18	24468957	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.953742936400093	0.786
18	22048921	T	C	18	24468957	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.996214068910141	0.894
18	22048921	T	G	18	24468957	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.993895465583807	0.84
18	22048922	C	A	18	24468958	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.52468154812682E-4	0.0
18	22048922	C	G	18	24468958	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.09659819656173E-4	0.002
18	22048922	C	T	18	24468958	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	8.67378569920084E-5	0.0
18	22048923	G	A	18	24468959	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.33400862758679E-4	0.026
18	22048923	G	C	18	24468959	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	6.30236135825889E-5	0.018
18	22048923	G	T	18	24468959	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	8.83563314959328E-5	0.032
18	22056699	G	A	18	24476735	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.999266654599528	0.894
18	22056699	G	C	18	24476735	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.436944929306849	0.56
18	22056699	G	T	18	24476735	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.247342117770272	0.564
18	22056700	G	A	18	24476736	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	3.52824650671463E-4	0.09
18	22056700	G	C	18	24476736	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	4.25040024003099E-5	0.03
18	22056700	G	T	18	24476736	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	5.2276262751719E-5	0.04
18	22056701	T	A	18	24476737	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.95181266775753	0.804
18	22056701	T	C	18	24476737	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00365996021022811	0.076
18	22056701	T	G	18	24476737	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.830334475070313	0.672
18	22056702	T	A	18	24476738	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.387835061227742	0.3
18	22056702	T	C	18	24476738	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	4.00026101812056E-5	0.006
18	22056702	T	G	18	24476738	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.156037199798038	0.278
18	22056703	T	A	18	24476739	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.990999000319231	0.788
18	22056703	T	C	18	24476739	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00733253567757389	0.208
18	22056703	T	G	18	24476739	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.72016219087093	0.632
18	22056704	C	A	18	24476740	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00167367185920482	0.058
18	22056704	C	G	18	24476740	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	5.32486246245025E-4	0.108
18	22056704	C	T	18	24476740	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.36263966685936E-4	0.0
18	22056705	T	A	18	24476741	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.836486965418148	0.676
18	22056705	T	C	18	24476741	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.67956966276718E-4	0.024
18	22056705	T	G	18	24476741	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.920495043372669	0.828
18	22056706	T	A	18	24476742	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.972032482712255	0.734
18	22056706	T	C	18	24476742	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00653630505549605	0.066
18	22056706	T	G	18	24476742	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.957415834305365	0.73
18	22056707	C	A	18	24476743	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	2.25138037138119E-4	0.024
18	22056707	C	G	18	24476743	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	4.77098569059421E-4	0.022
18	22056707	C	T	18	24476743	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	1.54757980035826E-4	0.012
18	22056708	T	A	18	24476744	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.92978506024197	0.628
18	22056708	T	C	18	24476744	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.00623693623243735	0.084
18	22056708	T	G	18	24476744	y	y	intronic	HRH4	.	.	intronic	ENSG00000134489	.	.	0.997640914434971	0.92
18	22056709	A	C	18	24476745	y	y	splicing	HRH4(NM_001160166:exon2:c.194-2A>C;NM_021624:exon3:c.358-2A>C)	.	.	splicing	ENSG00000134489(ENST00000256906:exon3:c.358-2A>C)	.	.	0.999988247793601	0.93
18	22056709	A	G	18	24476745	y	y	splicing	HRH4(NM_001160166:exon2:c.194-2A>G;NM_021624:exon3:c.358-2A>G)	.	.	splicing	ENSG00000134489(ENST00000256906:exon3:c.358-2A>G)	.	.	0.999988247793601	0.93
18	22056709	A	T	18	24476745	y	y	splicing	HRH4(NM_001160166:exon2:c.194-2A>T;NM_021624:exon3:c.358-2A>T)	.	.	splicing	ENSG00000134489(ENST00000256906:exon3:c.358-2A>T)	.	.	0.999988247793601	0.93
18	22056710	G	A	18	24476746	y	y	splicing	HRH4(NM_001160166:exon2:c.194-1G>A;NM_021624:exon3:c.358-1G>A)	.	.	splicing	ENSG00000134489(ENST00000256906:exon3:c.358-1G>A)	.	.	0.999990361384395	0.938
18	22056710	G	C	18	24476746	y	y	splicing	HRH4(NM_001160166:exon2:c.194-1G>C;NM_021624:exon3:c.358-1G>C)	.	.	splicing	ENSG00000134489(ENST00000256906:exon3:c.358-1G>C)	.	.	0.999990361384395	0.938
18	22056710	G	T	18	24476746	y	y	splicing	HRH4(NM_001160166:exon2:c.194-1G>T;NM_021624:exon3:c.358-1G>T)	.	.	splicing	ENSG00000134489(ENST00000256906:exon3:c.358-1G>T)	.	.	0.999990361384395	0.938
18	22056711	G	A	18	24476747	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001160166:exon2:c.G194A:p.G65D;HRH4:NM_021624:exon3:c.G358A:p.V120M;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon3:c.G358A:p.V120M;	0.0242690227551596	0.376
18	22056711	G	C	18	24476747	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001160166:exon2:c.G194C:p.G65A;HRH4:NM_021624:exon3:c.G358C:p.V120L;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon3:c.G358C:p.V120L;	0.796224946172962	0.758
18	22056711	G	T	18	24476747	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_001160166:exon2:c.G194T:p.G65V;HRH4:NM_021624:exon3:c.G358T:p.V120L;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon3:c.G358T:p.V120L;	0.988148830974058	0.786
18	22056712	T	A	18	24476748	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon3:c.T359A:p.V120E;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon3:c.T359A:p.V120E;	0.414056404943277	0.6
18	22056712	T	C	18	24476748	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon3:c.T359C:p.V120A;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon3:c.T359C:p.V120A;	0.464761861336932	0.614
18	22056712	T	G	18	24476748	y	y	exonic	HRH4	nonsynonymous SNV	HRH4:NM_021624:exon3:c.T359G:p.V120G;	exonic	ENSG00000134489	nonsynonymous SNV	ENSG00000134489:ENST00000256906:exon3:c.T359G:p.V120G;	0.464761861336932	0.614
18	22642704	T	A	18	25062740	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon8:c.A3908T:p.N1303I;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon8:c.A3908T:p.N1303I;ENSG00000198795:ENST00000584787:exon7:c.A3248T:p.N1083I;ENSG00000198795:ENST00000361524:exon8:c.A3908T:p.N1303I;	0.00809038754326639	0.038
18	22642704	T	C	18	25062740	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon8:c.A3908G:p.N1303S;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon8:c.A3908G:p.N1303S;ENSG00000198795:ENST00000584787:exon7:c.A3248G:p.N1083S;ENSG00000198795:ENST00000361524:exon8:c.A3908G:p.N1303S;	0.00412690755380827	0.028
18	22642704	T	G	18	25062740	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon8:c.A3908C:p.N1303T;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon8:c.A3908C:p.N1303T;ENSG00000198795:ENST00000584787:exon7:c.A3248C:p.N1083T;ENSG00000198795:ENST00000361524:exon8:c.A3908C:p.N1303T;	0.00317967099148294	0.05
18	22642705	T	A	18	25062741	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon8:c.A3907T:p.N1303Y;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon8:c.A3907T:p.N1303Y;ENSG00000198795:ENST00000584787:exon7:c.A3247T:p.N1083Y;ENSG00000198795:ENST00000361524:exon8:c.A3907T:p.N1303Y;	0.269962312372048	0.474
18	22642705	T	C	18	25062741	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon8:c.A3907G:p.N1303D;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon8:c.A3907G:p.N1303D;ENSG00000198795:ENST00000584787:exon7:c.A3247G:p.N1083D;ENSG00000198795:ENST00000361524:exon8:c.A3907G:p.N1303D;	0.00130572495247257	0.016
18	22642705	T	G	18	25062741	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon8:c.A3907C:p.N1303H;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon8:c.A3907C:p.N1303H;ENSG00000198795:ENST00000584787:exon7:c.A3247C:p.N1083H;ENSG00000198795:ENST00000361524:exon8:c.A3907C:p.N1303H;	0.00241840076835646	0.062
18	22642706	C	A	18	25062742	y	y	splicing	ZNF521(NM_015461:exon9:c.3907-1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon9:c.3907-1G>T;ENST00000584787:exon8:c.3247-1G>T;ENST00000399425:exon10:c.3987-1G>T;ENST00000538137:exon9:c.3907-1G>T)	.	.	0.999990361384395	0.938
18	22642706	C	G	18	25062742	y	y	splicing	ZNF521(NM_015461:exon9:c.3907-1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon9:c.3907-1G>C;ENST00000584787:exon8:c.3247-1G>C;ENST00000399425:exon10:c.3987-1G>C;ENST00000538137:exon9:c.3907-1G>C)	.	.	0.999990361384395	0.938
18	22642706	C	T	18	25062742	y	y	splicing	ZNF521(NM_015461:exon9:c.3907-1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon9:c.3907-1G>A;ENST00000584787:exon8:c.3247-1G>A;ENST00000399425:exon10:c.3987-1G>A;ENST00000538137:exon9:c.3907-1G>A)	.	.	0.999990361384395	0.934
18	22642707	T	A	18	25062743	y	y	splicing	ZNF521(NM_015461:exon9:c.3907-2A>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon9:c.3907-2A>T;ENST00000584787:exon8:c.3247-2A>T;ENST00000399425:exon10:c.3987-2A>T;ENST00000538137:exon9:c.3907-2A>T)	.	.	0.999988247793601	0.928
18	22642707	T	C	18	25062743	y	y	splicing	ZNF521(NM_015461:exon9:c.3907-2A>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon9:c.3907-2A>G;ENST00000584787:exon8:c.3247-2A>G;ENST00000399425:exon10:c.3987-2A>G;ENST00000538137:exon9:c.3907-2A>G)	.	.	0.999988247793601	0.928
18	22642707	T	G	18	25062743	y	y	splicing	ZNF521(NM_015461:exon9:c.3907-2A>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon9:c.3907-2A>C;ENST00000584787:exon8:c.3247-2A>C;ENST00000399425:exon10:c.3987-2A>C;ENST00000538137:exon9:c.3907-2A>C)	.	.	0.999988247793601	0.928
18	22642708	G	A	18	25062744	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0355435771651477	0.206
18	22642708	G	C	18	25062744	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999241688932198	0.958
18	22642708	G	T	18	25062744	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.983632096489	0.592
18	22642709	T	A	18	25062745	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.31267283966459E-5	0.002
18	22642709	T	C	18	25062745	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.4025215654792E-5	0.0
18	22642709	T	G	18	25062745	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.49133384544372E-6	0.0
18	22642710	A	C	18	25062746	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0663338521429634	0.252
18	22642710	A	G	18	25062746	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.66920841384391E-5	0.0
18	22642710	A	T	18	25062746	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0583256476908516	0.304
18	22642711	A	C	18	25062747	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0591634728100794	0.518
18	22642711	A	G	18	25062747	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.77786140508735E-5	0.034
18	22642711	A	T	18	25062747	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0450124871882585	0.464
18	22642712	A	C	18	25062748	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.997008777378649	0.984
18	22642712	A	G	18	25062748	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.69173734048219E-5	0.01
18	22642712	A	T	18	25062748	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00752354729386771	0.312
18	22642713	T	A	18	25062749	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.83559129380614E-6	0.0
18	22642713	T	C	18	25062749	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.53929084429736E-6	0.0
18	22642713	T	G	18	25062749	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.83559129380614E-6	0.0
18	22642714	A	C	18	25062750	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00142479980254089	0.234
18	22642714	A	G	18	25062750	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.03736787579708E-5	0.01
18	22642714	A	T	18	25062750	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.92180263563763E-4	0.21
18	22642715	A	C	18	25062751	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.215853393461018	0.414
18	22642715	A	G	18	25062751	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.86942962793419E-4	0.072
18	22642715	A	T	18	25062751	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.35256824353046	0.464
18	22642716	C	A	18	25062752	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.26278840914138E-5	0.0
18	22642716	C	G	18	25062752	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.40173270250616E-6	0.002
18	22642716	C	T	18	25062752	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.7773819053729E-5	0.002
18	22642717	A	C	18	25062753	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0127496289219389	0.306
18	22642717	A	G	18	25062753	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	8.34341413669783E-5	0.024
18	22642717	A	T	18	25062753	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.99935318882951	0.95
18	22669421	G	A	18	25089457	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.5092452581904E-5	0.0
18	22669421	G	C	18	25089457	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.09136496215274E-5	0.0
18	22669421	G	T	18	25089457	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.5092452581904E-5	0.0
18	22669422	A	C	18	25089458	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.37686270978402E-5	0.0
18	22669422	A	G	18	25089458	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.39503623311736E-5	0.0
18	22669422	A	T	18	25089458	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.39503623311736E-5	0.004
18	22669423	C	A	18	25089459	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.16564957964873E-4	0.008
18	22669423	C	G	18	25089459	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.14326159317019E-4	0.058
18	22669423	C	T	18	25089459	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.12272215011787E-4	0.01
18	22669424	A	C	18	25089460	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.31132806692942E-4	0.058
18	22669424	A	G	18	25089460	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.18182803229262E-4	0.006
18	22669424	A	T	18	25089460	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	8.77410488193091E-5	0.006
18	22669425	T	A	18	25089461	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0791389414837898	0.272
18	22669425	T	C	18	25089461	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.914457169432929	0.526
18	22669425	T	G	18	25089461	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.160138734123138	0.384
18	22669426	T	A	18	25089462	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999883747710356	0.934
18	22669426	T	C	18	25089462	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.989247695850346	0.788
18	22669426	T	G	18	25089462	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999821994543905	0.934
18	22669427	A	C	18	25089463	y	y	splicing	ZNF521(NM_015461:exon8:c.3906+2T>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3906+2T>G;ENST00000584787:exon7:c.3246+2T>G;ENST00000399425:exon9:c.3986+2T>G;ENST00000538137:exon8:c.3906+2T>G)	.	.	0.999988247793601	0.93
18	22669427	A	G	18	25089463	y	y	splicing	ZNF521(NM_015461:exon8:c.3906+2T>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3906+2T>C;ENST00000584787:exon7:c.3246+2T>C;ENST00000399425:exon9:c.3986+2T>C;ENST00000538137:exon8:c.3906+2T>C)	.	.	0.98918007292081	0.672
18	22669427	A	T	18	25089463	y	y	splicing	ZNF521(NM_015461:exon8:c.3906+2T>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3906+2T>A;ENST00000584787:exon7:c.3246+2T>A;ENST00000399425:exon9:c.3986+2T>A;ENST00000538137:exon8:c.3906+2T>A)	.	.	0.999988247793601	0.93
18	22669428	C	A	18	25089464	y	y	splicing	ZNF521(NM_015461:exon8:c.3906+1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3906+1G>T;ENST00000584787:exon7:c.3246+1G>T;ENST00000399425:exon9:c.3986+1G>T;ENST00000538137:exon8:c.3906+1G>T)	.	.	0.999990361384395	0.936
18	22669428	C	G	18	25089464	y	y	splicing	ZNF521(NM_015461:exon8:c.3906+1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3906+1G>C;ENST00000584787:exon7:c.3246+1G>C;ENST00000399425:exon9:c.3986+1G>C;ENST00000538137:exon8:c.3906+1G>C)	.	.	0.999990361384395	0.936
18	22669428	C	T	18	25089464	y	y	splicing	ZNF521(NM_015461:exon8:c.3906+1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3906+1G>A;ENST00000584787:exon7:c.3246+1G>A;ENST00000399425:exon9:c.3986+1G>A;ENST00000538137:exon8:c.3906+1G>A)	.	.	0.999990361384395	0.936
18	22669429	C	A	18	25089465	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.G3906T:p.Q1302H;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.G3906T:p.Q1302H;ENSG00000198795:ENST00000584787:exon6:c.G3246T:p.Q1082H;ENSG00000198795:ENST00000361524:exon7:c.G3906T:p.Q1302H;	0.999992085169995	0.996
18	22669429	C	G	18	25089465	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.G3906C:p.Q1302H;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.G3906C:p.Q1302H;ENSG00000198795:ENST00000584787:exon6:c.G3246C:p.Q1082H;ENSG00000198795:ENST00000361524:exon7:c.G3906C:p.Q1302H;	0.999997467131986	1.0
18	22669429	C	T	18	25089465	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon7:c.G3906A:p.Q1302Q;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.G3906A:p.Q1302Q;ENSG00000198795:ENST00000584787:exon6:c.G3246A:p.Q1082Q;ENSG00000198795:ENST00000361524:exon7:c.G3906A:p.Q1302Q;	0.999972897183106	0.918
18	22669430	T	A	18	25089466	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.A3905T:p.Q1302L;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.A3905T:p.Q1302L;ENSG00000198795:ENST00000584787:exon6:c.A3245T:p.Q1082L;ENSG00000198795:ENST00000361524:exon7:c.A3905T:p.Q1302L;	0.999958053069971	1.0
18	22669430	T	C	18	25089466	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.A3905G:p.Q1302R;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.A3905G:p.Q1302R;ENSG00000198795:ENST00000584787:exon6:c.A3245G:p.Q1082R;ENSG00000198795:ENST00000361524:exon7:c.A3905G:p.Q1302R;	0.99989867621526	0.984
18	22669430	T	G	18	25089466	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.A3905C:p.Q1302P;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.A3905C:p.Q1302P;ENSG00000198795:ENST00000584787:exon6:c.A3245C:p.Q1082P;ENSG00000198795:ENST00000361524:exon7:c.A3905C:p.Q1302P;	0.999922996269826	0.996
18	22669431	G	A	18	25089467	y	y	exonic	ZNF521	stopgain SNV	ZNF521:NM_015461:exon7:c.C3904T:p.Q1302X;	exonic	ENSG00000198795	stopgain SNV	ENSG00000198795:ENST00000538137:exon7:c.C3904T:p.Q1302X;ENSG00000198795:ENST00000584787:exon6:c.C3244T:p.Q1082X;ENSG00000198795:ENST00000361524:exon7:c.C3904T:p.Q1302X;	0.999811977147526	0.962
18	22669431	G	C	18	25089467	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.C3904G:p.Q1302E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.C3904G:p.Q1302E;ENSG00000198795:ENST00000584787:exon6:c.C3244G:p.Q1082E;ENSG00000198795:ENST00000361524:exon7:c.C3904G:p.Q1302E;	0.972572706059057	0.65
18	22669431	G	T	18	25089467	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.C3904A:p.Q1302K;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.C3904A:p.Q1302K;ENSG00000198795:ENST00000584787:exon6:c.C3244A:p.Q1082K;ENSG00000198795:ENST00000361524:exon7:c.C3904A:p.Q1302K;	0.959706441926371	0.734
18	22669543	T	A	18	25089579	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon7:c.A3792T:p.V1264V;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.A3792T:p.V1264V;ENSG00000198795:ENST00000584787:exon6:c.A3132T:p.V1044V;ENSG00000198795:ENST00000361524:exon7:c.A3792T:p.V1264V;	3.00560606107972E-4	0.0
18	22669543	T	C	18	25089579	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon7:c.A3792G:p.V1264V;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.A3792G:p.V1264V;ENSG00000198795:ENST00000584787:exon6:c.A3132G:p.V1044V;ENSG00000198795:ENST00000361524:exon7:c.A3792G:p.V1264V;	1.37707674696993E-4	0.01
18	22669543	T	G	18	25089579	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon7:c.A3792C:p.V1264V;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.A3792C:p.V1264V;ENSG00000198795:ENST00000584787:exon6:c.A3132C:p.V1044V;ENSG00000198795:ENST00000361524:exon7:c.A3792C:p.V1264V;	6.30060596227801E-4	0.01
18	22669544	A	C	18	25089580	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.T3791G:p.V1264G;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.T3791G:p.V1264G;ENSG00000198795:ENST00000584787:exon6:c.T3131G:p.V1044G;ENSG00000198795:ENST00000361524:exon7:c.T3791G:p.V1264G;	0.673147046239084	0.53
18	22669544	A	G	18	25089580	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.T3791C:p.V1264A;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.T3791C:p.V1264A;ENSG00000198795:ENST00000584787:exon6:c.T3131C:p.V1044A;ENSG00000198795:ENST00000361524:exon7:c.T3791C:p.V1264A;	0.758040834045917	0.596
18	22669544	A	T	18	25089580	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon7:c.T3791A:p.V1264E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon7:c.T3791A:p.V1264E;ENSG00000198795:ENST00000584787:exon6:c.T3131A:p.V1044E;ENSG00000198795:ENST00000361524:exon7:c.T3791A:p.V1264E;	0.564339561630094	0.626
18	22669545	C	A	18	25089581	y	y	splicing	ZNF521(NM_015461:exon8:c.3791-1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3791-1G>T;ENST00000584787:exon7:c.3131-1G>T;ENST00000399425:exon9:c.3871-1G>T;ENST00000538137:exon8:c.3791-1G>T)	.	.	0.999985532734767	0.934
18	22669545	C	G	18	25089581	y	y	splicing	ZNF521(NM_015461:exon8:c.3791-1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3791-1G>C;ENST00000584787:exon7:c.3131-1G>C;ENST00000399425:exon9:c.3871-1G>C;ENST00000538137:exon8:c.3791-1G>C)	.	.	0.999985532734767	0.934
18	22669545	C	T	18	25089581	y	y	splicing	ZNF521(NM_015461:exon8:c.3791-1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3791-1G>A;ENST00000584787:exon7:c.3131-1G>A;ENST00000399425:exon9:c.3871-1G>A;ENST00000538137:exon8:c.3791-1G>A)	.	.	0.999985532734767	0.934
18	22669546	T	A	18	25089582	y	y	splicing	ZNF521(NM_015461:exon8:c.3791-2A>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3791-2A>T;ENST00000584787:exon7:c.3131-2A>T;ENST00000399425:exon9:c.3871-2A>T;ENST00000538137:exon8:c.3791-2A>T)	.	.	0.999988247793601	0.926
18	22669546	T	C	18	25089582	y	y	splicing	ZNF521(NM_015461:exon8:c.3791-2A>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3791-2A>G;ENST00000584787:exon7:c.3131-2A>G;ENST00000399425:exon9:c.3871-2A>G;ENST00000538137:exon8:c.3791-2A>G)	.	.	0.999988247793601	0.926
18	22669546	T	G	18	25089582	y	y	splicing	ZNF521(NM_015461:exon8:c.3791-2A>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon8:c.3791-2A>C;ENST00000584787:exon7:c.3131-2A>C;ENST00000399425:exon9:c.3871-2A>C;ENST00000538137:exon8:c.3791-2A>C)	.	.	0.999988247793601	0.926
18	22669547	G	A	18	25089583	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0147091139399362	0.176
18	22669547	G	C	18	25089583	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999336040011251	0.942
18	22669547	G	T	18	25089583	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.950236825426715	0.676
18	22669548	A	C	18	25089584	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.32747080097856E-4	0.016
18	22669548	A	G	18	25089584	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.14836886155472E-5	0.0
18	22669548	A	T	18	25089584	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.5599142213587E-4	0.002
18	22669549	A	C	18	25089585	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.942799323019255	0.588
18	22669549	A	G	18	25089585	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0835447191143983	0.17
18	22669549	A	T	18	25089585	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.853477068720836	0.6
18	22669550	A	C	18	25089586	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999942763864309	0.956
18	22669550	A	G	18	25089586	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00860840131578419	0.108
18	22669550	A	T	18	25089586	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.762733883549129	0.504
18	22669551	T	A	18	25089587	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.70438086039835E-5	0.004
18	22669551	T	C	18	25089587	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.24448830120472E-5	0.004
18	22669551	T	G	18	25089587	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.56417394643002E-5	0.004
18	22669552	G	A	18	25089588	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.97321109420202E-4	0.106
18	22669552	G	C	18	25089588	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00993798109153742	0.102
18	22669552	G	T	18	25089588	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00436344919297381	0.096
18	22669553	A	C	18	25089589	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999948125790708	0.99
18	22669553	A	G	18	25089589	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.03558488531042E-4	0.008
18	22669553	A	T	18	25089589	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.396284612676647	0.484
18	22669554	T	A	18	25089590	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.42107542470252E-5	0.03
18	22669554	T	C	18	25089590	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.35478847276024E-4	0.072
18	22669554	T	G	18	25089590	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.82901299086843E-5	0.042
18	22669555	A	C	18	25089591	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.998016360172696	0.896
18	22669555	A	G	18	25089591	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.934239626460909	0.394
18	22669555	A	T	18	25089591	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999305173587859	0.93
18	22669556	A	C	18	25089592	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.808807853128279	0.586
18	22669556	A	G	18	25089592	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00207106593574991	0.02
18	22669556	A	T	18	25089592	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.688409219645258	0.664
18	22671906	C	A	18	25091942	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.06367733178738E-4	0.082
18	22671906	C	G	18	25091942	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.41771281269862E-4	0.014
18	22671906	C	T	18	25091942	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.10201957927584E-4	0.02
18	22671907	T	A	18	25091943	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.20318755148765E-4	0.038
18	22671907	T	C	18	25091943	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.62834069016584E-4	0.004
18	22671907	T	G	18	25091943	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.66564374377746E-4	0.002
18	22671908	T	A	18	25091944	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.33664462853425E-4	0.046
18	22671908	T	C	18	25091944	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.27474690654137E-4	0.002
18	22671908	T	G	18	25091944	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.80314317299023E-4	0.074
18	22671909	C	A	18	25091945	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999976008337081	0.966
18	22671909	C	G	18	25091945	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999951795283861	0.994
18	22671909	C	T	18	25091945	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999919931866053	0.996
18	22671910	C	A	18	25091946	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0110010317242909	0.076
18	22671910	C	G	18	25091946	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00189070964369259	0.164
18	22671910	C	T	18	25091946	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.43847271200534E-4	0.168
18	22671911	C	A	18	25091947	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.306880436927739	0.464
18	22671911	C	G	18	25091947	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.163375209628455	0.486
18	22671911	C	T	18	25091947	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.31352620643922E-5	0.032
18	22671912	A	C	18	25091948	y	y	splicing	ZNF521(NM_015461:exon7:c.3790+2T>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3790+2T>G;ENST00000584787:exon6:c.3130+2T>G;ENST00000399425:exon8:c.3870+2T>G;ENST00000538137:exon7:c.3790+2T>G)	.	.	0.999988247793601	0.948
18	22671912	A	G	18	25091948	y	y	splicing	ZNF521(NM_015461:exon7:c.3790+2T>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3790+2T>C;ENST00000584787:exon6:c.3130+2T>C;ENST00000399425:exon8:c.3870+2T>C;ENST00000538137:exon7:c.3790+2T>C)	.	.	0.999929727175276	0.886
18	22671912	A	T	18	25091948	y	y	splicing	ZNF521(NM_015461:exon7:c.3790+2T>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3790+2T>A;ENST00000584787:exon6:c.3130+2T>A;ENST00000399425:exon8:c.3870+2T>A;ENST00000538137:exon7:c.3790+2T>A)	.	.	0.999988247793601	0.948
18	22671913	C	A	18	25091949	y	y	splicing	ZNF521(NM_015461:exon7:c.3790+1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3790+1G>T;ENST00000584787:exon6:c.3130+1G>T;ENST00000399425:exon8:c.3870+1G>T;ENST00000538137:exon7:c.3790+1G>T)	.	.	0.999990361384395	0.948
18	22671913	C	G	18	25091949	y	y	splicing	ZNF521(NM_015461:exon7:c.3790+1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3790+1G>C;ENST00000584787:exon6:c.3130+1G>C;ENST00000399425:exon8:c.3870+1G>C;ENST00000538137:exon7:c.3790+1G>C)	.	.	0.999990361384395	0.948
18	22671913	C	T	18	25091949	y	y	splicing	ZNF521(NM_015461:exon7:c.3790+1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3790+1G>A;ENST00000584787:exon6:c.3130+1G>A;ENST00000399425:exon8:c.3870+1G>A;ENST00000538137:exon7:c.3790+1G>A)	.	.	0.999990361384395	0.948
18	22671914	C	A	18	25091950	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.G3790T:p.V1264L;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.G3790T:p.V1264L;ENSG00000198795:ENST00000584787:exon5:c.G3130T:p.V1044L;ENSG00000198795:ENST00000361524:exon6:c.G3790T:p.V1264L;	0.999992085169995	0.996
18	22671914	C	G	18	25091950	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.G3790C:p.V1264L;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.G3790C:p.V1264L;ENSG00000198795:ENST00000584787:exon5:c.G3130C:p.V1044L;ENSG00000198795:ENST00000361524:exon6:c.G3790C:p.V1264L;	0.999997610789446	1.0
18	22671914	C	T	18	25091950	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.G3790A:p.V1264I;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.G3790A:p.V1264I;ENSG00000198795:ENST00000584787:exon5:c.G3130A:p.V1044I;ENSG00000198795:ENST00000361524:exon6:c.G3790A:p.V1264I;	0.999996036356266	1.0
18	22671915	T	A	18	25091951	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon6:c.A3789T:p.T1263T;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.A3789T:p.T1263T;ENSG00000198795:ENST00000584787:exon5:c.A3129T:p.T1043T;ENSG00000198795:ENST00000361524:exon6:c.A3789T:p.T1263T;	0.999780038706779	0.962
18	22671915	T	C	18	25091951	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon6:c.A3789G:p.T1263T;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.A3789G:p.T1263T;ENSG00000198795:ENST00000584787:exon5:c.A3129G:p.T1043T;ENSG00000198795:ENST00000361524:exon6:c.A3789G:p.T1263T;	0.999725902231346	0.992
18	22671915	T	G	18	25091951	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon6:c.A3789C:p.T1263T;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.A3789C:p.T1263T;ENSG00000198795:ENST00000584787:exon5:c.A3129C:p.T1043T;ENSG00000198795:ENST00000361524:exon6:c.A3789C:p.T1263T;	0.999470561248705	0.994
18	22671916	G	A	18	25091952	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.C3788T:p.T1263I;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.C3788T:p.T1263I;ENSG00000198795:ENST00000584787:exon5:c.C3128T:p.T1043I;ENSG00000198795:ENST00000361524:exon6:c.C3788T:p.T1263I;	0.999891348215902	0.984
18	22671916	G	C	18	25091952	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.C3788G:p.T1263R;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.C3788G:p.T1263R;ENSG00000198795:ENST00000584787:exon5:c.C3128G:p.T1043R;ENSG00000198795:ENST00000361524:exon6:c.C3788G:p.T1263R;	0.942197147348586	0.682
18	22671916	G	T	18	25091952	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.C3788A:p.T1263K;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.C3788A:p.T1263K;ENSG00000198795:ENST00000584787:exon5:c.C3128A:p.T1043K;ENSG00000198795:ENST00000361524:exon6:c.C3788A:p.T1263K;	0.966313128110371	0.78
18	22672044	A	C	18	25092080	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.T3660G:p.D1220E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.T3660G:p.D1220E;ENSG00000198795:ENST00000584787:exon5:c.T3000G:p.D1000E;ENSG00000198795:ENST00000361524:exon6:c.T3660G:p.D1220E;	0.00205667363436398	0.098
18	22672044	A	G	18	25092080	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon6:c.T3660C:p.D1220D;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.T3660C:p.D1220D;ENSG00000198795:ENST00000584787:exon5:c.T3000C:p.D1000D;ENSG00000198795:ENST00000361524:exon6:c.T3660C:p.D1220D;	0.00201909750551278	0.066
18	22672044	A	T	18	25092080	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.T3660A:p.D1220E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.T3660A:p.D1220E;ENSG00000198795:ENST00000584787:exon5:c.T3000A:p.D1000E;ENSG00000198795:ENST00000361524:exon6:c.T3660A:p.D1220E;	0.00425122518550245	0.154
18	22672045	T	A	18	25092081	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.A3659T:p.D1220V;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.A3659T:p.D1220V;ENSG00000198795:ENST00000584787:exon5:c.A2999T:p.D1000V;ENSG00000198795:ENST00000361524:exon6:c.A3659T:p.D1220V;	0.749050464760755	0.518
18	22672045	T	C	18	25092081	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.A3659G:p.D1220G;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.A3659G:p.D1220G;ENSG00000198795:ENST00000584787:exon5:c.A2999G:p.D1000G;ENSG00000198795:ENST00000361524:exon6:c.A3659G:p.D1220G;	0.266769518618698	0.416
18	22672045	T	G	18	25092081	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon6:c.A3659C:p.D1220A;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon6:c.A3659C:p.D1220A;ENSG00000198795:ENST00000584787:exon5:c.A2999C:p.D1000A;ENSG00000198795:ENST00000361524:exon6:c.A3659C:p.D1220A;	0.707027022483859	0.5
18	22672046	C	A	18	25092082	y	y	splicing	ZNF521(NM_015461:exon7:c.3659-1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3659-1G>T;ENST00000584787:exon6:c.2999-1G>T;ENST00000399425:exon8:c.3739-1G>T;ENST00000538137:exon7:c.3659-1G>T)	.	.	0.999990361384395	0.938
18	22672046	C	G	18	25092082	y	y	splicing	ZNF521(NM_015461:exon7:c.3659-1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3659-1G>C;ENST00000584787:exon6:c.2999-1G>C;ENST00000399425:exon8:c.3739-1G>C;ENST00000538137:exon7:c.3659-1G>C)	.	.	0.999990361384395	0.938
18	22672046	C	T	18	25092082	y	y	splicing	ZNF521(NM_015461:exon7:c.3659-1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3659-1G>A;ENST00000584787:exon6:c.2999-1G>A;ENST00000399425:exon8:c.3739-1G>A;ENST00000538137:exon7:c.3659-1G>A)	.	.	0.999990361384395	0.938
18	22672047	T	A	18	25092083	y	y	splicing	ZNF521(NM_015461:exon7:c.3659-2A>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3659-2A>T;ENST00000584787:exon6:c.2999-2A>T;ENST00000399425:exon8:c.3739-2A>T;ENST00000538137:exon7:c.3659-2A>T)	.	.	0.999988247793601	0.932
18	22672047	T	C	18	25092083	y	y	splicing	ZNF521(NM_015461:exon7:c.3659-2A>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3659-2A>G;ENST00000584787:exon6:c.2999-2A>G;ENST00000399425:exon8:c.3739-2A>G;ENST00000538137:exon7:c.3659-2A>G)	.	.	0.999988247793601	0.932
18	22672047	T	G	18	25092083	y	y	splicing	ZNF521(NM_015461:exon7:c.3659-2A>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon7:c.3659-2A>C;ENST00000584787:exon6:c.2999-2A>C;ENST00000399425:exon8:c.3739-2A>C;ENST00000538137:exon7:c.3659-2A>C)	.	.	0.999988247793601	0.932
18	22672048	G	A	18	25092084	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.986603925054465	0.34
18	22672048	G	C	18	25092084	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999935806505672	0.964
18	22672048	G	T	18	25092084	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999928273251169	0.97
18	22672049	T	A	18	25092085	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.1495092115085E-4	0.014
18	22672049	T	C	18	25092085	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.38325782962618E-4	0.038
18	22672049	T	G	18	25092085	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.00277270602858E-4	0.002
18	22672050	C	A	18	25092086	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.81623494417407E-5	0.004
18	22672050	C	G	18	25092086	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.55199769416261E-5	0.004
18	22672050	C	T	18	25092086	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.54786690468421E-5	0.0
18	22672051	A	C	18	25092087	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.043702367147035	0.398
18	22672051	A	G	18	25092087	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.02361582178259E-4	0.002
18	22672051	A	T	18	25092087	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999643179112756	0.958
18	22672052	A	C	18	25092088	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.10995151316759	0.252
18	22672052	A	G	18	25092088	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.46227481583357E-5	0.038
18	22672052	A	T	18	25092088	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0545803732250379	0.272
18	22672053	G	A	18	25092089	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.48000266975754E-4	0.016
18	22672053	G	C	18	25092089	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0034042157499177	0.098
18	22672053	G	T	18	25092089	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00258892112351988	0.066
18	22672054	G	A	18	25092090	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.03542613368608E-5	0.0
18	22672054	G	C	18	25092090	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.65337868824814E-4	0.054
18	22672054	G	T	18	25092090	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00154892693156755	0.04
18	22672055	A	C	18	25092091	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00259984204240996	0.098
18	22672055	A	G	18	25092091	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.39767358134003E-4	0.0
18	22672055	A	T	18	25092091	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00485339215377083	0.064
18	22672056	A	C	18	25092092	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.343335506450801	0.478
18	22672056	A	G	18	25092092	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0267114091316944	0.204
18	22672056	A	T	18	25092092	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.533330315356387	0.55
18	22672057	A	C	18	25092093	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0249581855569362	0.186
18	22672057	A	G	18	25092093	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.24712828406853E-4	0.006
18	22672057	A	T	18	25092093	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00772673869344803	0.16
18	22716702	G	A	18	25136738	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	4.7749166663215E-5	0.002
18	22716702	G	C	18	25136738	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	4.92238065260132E-5	0.0
18	22716702	G	T	18	25136738	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	6.27477746119029E-5	0.002
18	22716703	T	A	18	25136739	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	2.455930068921E-5	0.002
18	22716703	T	C	18	25136739	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	2.455930068921E-5	0.002
18	22716703	T	G	18	25136739	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	2.455930068921E-5	0.002
18	22716704	C	A	18	25136740	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577775:exon4:c.531-1G>T)	.	.	9.98044437503475E-5	0.002
18	22716704	C	G	18	25136740	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577775:exon4:c.531-1G>C)	.	.	5.8840742393182E-5	0.002
18	22716704	C	T	18	25136740	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577775:exon4:c.531-1G>A)	.	.	9.98044437503475E-5	0.002
18	22716705	T	A	18	25136741	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577775:exon4:c.531-2A>T)	.	.	1.44101454748109E-4	0.004
18	22716705	T	C	18	25136741	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577775:exon4:c.531-2A>G)	.	.	1.07902708129146E-4	0.004
18	22716705	T	G	18	25136741	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577775:exon4:c.531-2A>C)	.	.	1.07902708129146E-4	0.004
18	22716706	A	C	18	25136742	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.99263190704948E-5	0.0
18	22716706	A	G	18	25136742	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.99263190704948E-5	0.0
18	22716706	A	T	18	25136742	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.99263190704948E-5	0.0
18	22716707	G	A	18	25136743	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.56058489670908E-5	0.0
18	22716707	G	C	18	25136743	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.2602257648257E-5	0.0
18	22716707	G	T	18	25136743	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.2602257648257E-5	0.0
18	22716708	T	A	18	25136744	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.21557472225283E-5	0.0
18	22716708	T	C	18	25136744	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.21557472225283E-5	0.0
18	22716708	T	G	18	25136744	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.21557472225283E-5	0.0
18	22716709	A	C	18	25136745	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.59839159160091E-5	0.0
18	22716709	A	G	18	25136745	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.59839159160091E-5	0.0
18	22716709	A	T	18	25136745	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.59839159160091E-5	0.0
18	22716710	A	C	18	25136746	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.11713759611921E-5	0.004
18	22716710	A	G	18	25136746	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.11713759611921E-5	0.004
18	22716710	A	T	18	25136746	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.11713759611921E-5	0.004
18	22716711	T	A	18	25136747	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.11713759611921E-5	0.0
18	22716711	T	C	18	25136747	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.50552619103442E-5	0.004
18	22716711	T	G	18	25136747	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.50552619103442E-5	0.01
18	22716712	A	C	18	25136748	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.52086759380612E-5	0.008
18	22716712	A	G	18	25136748	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.52086759380612E-5	0.008
18	22716712	A	T	18	25136748	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.52086759380612E-5	0.006
18	22716713	A	C	18	25136749	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.552751562108E-5	0.004
18	22716713	A	G	18	25136749	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.552751562108E-5	0.004
18	22716713	A	T	18	25136749	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.552751562108E-5	0.064
18	22716714	A	C	18	25136750	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.71108049909453E-5	0.002
18	22716714	A	G	18	25136750	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.71108049909453E-5	0.002
18	22716714	A	T	18	25136750	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.71108049909453E-5	0.002
18	22716715	A	C	18	25136751	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.5264820592664E-5	0.006
18	22716715	A	G	18	25136751	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.5264820592664E-5	0.006
18	22716715	A	T	18	25136751	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.5264820592664E-5	0.004
18	22775116	T	A	18	25195152	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0290588612653009	0.046
18	22775116	T	C	18	25195152	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.008617381963345	0.026
18	22775116	T	G	18	25195152	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0126869538811265	0.036
18	22775117	C	A	18	25195153	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.55984662119299E-5	0.006
18	22775117	C	G	18	25195153	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.3660413354931E-4	0.04
18	22775117	C	T	18	25195153	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.55232293977891E-4	0.018
18	22775118	A	C	18	25195154	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.957115519458922	0.75
18	22775118	A	G	18	25195154	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.906822179567305	0.648
18	22775118	A	T	18	25195154	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.995489650852767	0.802
18	22775119	C	A	18	25195155	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999985309562992	0.974
18	22775119	C	G	18	25195155	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999979166489237	0.97
18	22775119	C	T	18	25195155	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999979161991492	0.998
18	22775120	T	A	18	25195156	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.998599240356403	0.896
18	22775120	T	C	18	25195156	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.977341153622669	0.69
18	22775120	T	G	18	25195156	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.988653379568985	0.786
18	22775121	C	A	18	25195157	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.99163671798929	0.646
18	22775121	C	G	18	25195157	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.993287948840866	0.708
18	22775121	C	T	18	25195157	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.46249644523212E-4	0.004
18	22775122	A	C	18	25195158	y	y	splicing	ZNF521(NM_015461:exon6:c.3658+2T>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3658+2T>G;ENST00000584787:exon5:c.2998+2T>G;ENST00000399425:exon7:c.3738+2T>G;ENST00000538137:exon6:c.3658+2T>G;ENST00000577775:exon3:c.530+2T>G)	.	.	0.999981808176352	0.916
18	22775122	A	G	18	25195158	y	y	splicing	ZNF521(NM_015461:exon6:c.3658+2T>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3658+2T>C;ENST00000584787:exon5:c.2998+2T>C;ENST00000399425:exon7:c.3738+2T>C;ENST00000538137:exon6:c.3658+2T>C;ENST00000577775:exon3:c.530+2T>C)	.	.	0.999965235625926	0.858
18	22775122	A	T	18	25195158	y	y	splicing	ZNF521(NM_015461:exon6:c.3658+2T>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3658+2T>A;ENST00000584787:exon5:c.2998+2T>A;ENST00000399425:exon7:c.3738+2T>A;ENST00000538137:exon6:c.3658+2T>A;ENST00000577775:exon3:c.530+2T>A)	.	.	0.999981808176352	0.916
18	22775123	C	A	18	25195159	y	y	splicing	ZNF521(NM_015461:exon6:c.3658+1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3658+1G>T;ENST00000584787:exon5:c.2998+1G>T;ENST00000399425:exon7:c.3738+1G>T;ENST00000538137:exon6:c.3658+1G>T;ENST00000577775:exon3:c.530+1G>T)	.	.	0.999989072007339	0.934
18	22775123	C	G	18	25195159	y	y	splicing	ZNF521(NM_015461:exon6:c.3658+1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3658+1G>C;ENST00000584787:exon5:c.2998+1G>C;ENST00000399425:exon7:c.3738+1G>C;ENST00000538137:exon6:c.3658+1G>C;ENST00000577775:exon3:c.530+1G>C)	.	.	0.999989072007339	0.934
18	22775123	C	T	18	25195159	y	y	splicing	ZNF521(NM_015461:exon6:c.3658+1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3658+1G>A;ENST00000584787:exon5:c.2998+1G>A;ENST00000399425:exon7:c.3738+1G>A;ENST00000538137:exon6:c.3658+1G>A;ENST00000577775:exon3:c.530+1G>A)	.	.	0.999989072007339	0.934
18	22775124	C	A	18	25195160	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.G3658T:p.D1220Y;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.G3658T:p.D1220Y;ENSG00000198795:ENST00000584787:exon4:c.G2998T:p.D1000Y;ENSG00000198795:ENST00000361524:exon5:c.G3658T:p.D1220Y;	0.99997784814361	0.9
18	22775124	C	G	18	25195160	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.G3658C:p.D1220H;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.G3658C:p.D1220H;ENSG00000198795:ENST00000584787:exon4:c.G2998C:p.D1000H;ENSG00000198795:ENST00000361524:exon5:c.G3658C:p.D1220H;	0.999312387920242	0.774
18	22775124	C	T	18	25195160	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.G3658A:p.D1220N;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.G3658A:p.D1220N;ENSG00000198795:ENST00000584787:exon4:c.G2998A:p.D1000N;ENSG00000198795:ENST00000361524:exon5:c.G3658A:p.D1220N;	0.999967298690817	0.998
18	22775125	A	C	18	25195161	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.T3657G:p.I1219M;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.T3657G:p.I1219M;ENSG00000198795:ENST00000584787:exon4:c.T2997G:p.I999M;ENSG00000198795:ENST00000361524:exon5:c.T3657G:p.I1219M;	4.6380340700925E-4	0.046
18	22775125	A	G	18	25195161	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon5:c.T3657C:p.I1219I;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.T3657C:p.I1219I;ENSG00000198795:ENST00000584787:exon4:c.T2997C:p.I999I;ENSG00000198795:ENST00000361524:exon5:c.T3657C:p.I1219I;	4.86289450493449E-4	0.05
18	22775125	A	T	18	25195161	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon5:c.T3657A:p.I1219I;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.T3657A:p.I1219I;ENSG00000198795:ENST00000584787:exon4:c.T2997A:p.I999I;ENSG00000198795:ENST00000361524:exon5:c.T3657A:p.I1219I;	9.31604177104518E-5	0.084
18	22775126	A	C	18	25195162	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.T3656G:p.I1219S;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.T3656G:p.I1219S;ENSG00000198795:ENST00000584787:exon4:c.T2996G:p.I999S;ENSG00000198795:ENST00000361524:exon5:c.T3656G:p.I1219S;	0.00522751427350545	0.034
18	22775126	A	G	18	25195162	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.T3656C:p.I1219T;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.T3656C:p.I1219T;ENSG00000198795:ENST00000584787:exon4:c.T2996C:p.I999T;ENSG00000198795:ENST00000361524:exon5:c.T3656C:p.I1219T;	0.00199240683552542	0.014
18	22775126	A	T	18	25195162	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.T3656A:p.I1219N;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.T3656A:p.I1219N;ENSG00000198795:ENST00000584787:exon4:c.T2996A:p.I999N;ENSG00000198795:ENST00000361524:exon5:c.T3656A:p.I1219N;	0.00238780248535801	0.006
18	22775207	T	A	18	25195243	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.A3575T:p.K1192M;	exonic	ENSG00000198795	stopgain SNV	ENSG00000198795:ENST00000399425:exon6:c.A3655T:p.R1219X;	0.91957043721363	0.768
18	22775207	T	C	18	25195243	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.A3575G:p.K1192R;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.A3575G:p.K1192R;ENSG00000198795:ENST00000584787:exon4:c.A2915G:p.K972R;ENSG00000198795:ENST00000399425:exon6:c.A3655G:p.R1219G;ENSG00000198795:ENST00000361524:exon5:c.A3575G:p.K1192R;	0.0164456593503683	0.04
18	22775207	T	G	18	25195243	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.A3575C:p.K1192T;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.A3575C:p.K1192T;ENSG00000198795:ENST00000584787:exon4:c.A2915C:p.K972T;ENSG00000198795:ENST00000361524:exon5:c.A3575C:p.K1192T;	0.00729657621790641	0.078
18	22775208	T	A	18	25195244	y	y	exonic	ZNF521	stopgain SNV	ZNF521:NM_015461:exon5:c.A3574T:p.K1192X;	exonic	ENSG00000198795	stopgain SNV	ENSG00000198795:ENST00000538137:exon5:c.A3574T:p.K1192X;ENSG00000198795:ENST00000584787:exon4:c.A2914T:p.K972X;ENSG00000198795:ENST00000361524:exon5:c.A3574T:p.K1192X;	0.832201312568953	0.592
18	22775208	T	C	18	25195244	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.A3574G:p.K1192E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.A3574G:p.K1192E;ENSG00000198795:ENST00000584787:exon4:c.A2914G:p.K972E;ENSG00000198795:ENST00000361524:exon5:c.A3574G:p.K1192E;	0.00228000977997743	0.008
18	22775208	T	G	18	25195244	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon5:c.A3574C:p.K1192Q;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon5:c.A3574C:p.K1192Q;ENSG00000198795:ENST00000584787:exon4:c.A2914C:p.K972Q;ENSG00000198795:ENST00000361524:exon5:c.A3574C:p.K1192Q;	0.167970731101443	0.308
18	22775209	C	A	18	25195245	y	y	splicing	ZNF521(NM_015461:exon6:c.3574-1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3574-1G>T;ENST00000584787:exon5:c.2914-1G>T;ENST00000399425:exon7:c.3654-1G>T;ENST00000538137:exon6:c.3574-1G>T;ENST00000577775:exon3:c.446-1G>T)	.	.	0.999989072007339	0.932
18	22775209	C	G	18	25195245	y	y	splicing	ZNF521(NM_015461:exon6:c.3574-1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3574-1G>C;ENST00000584787:exon5:c.2914-1G>C;ENST00000399425:exon7:c.3654-1G>C;ENST00000538137:exon6:c.3574-1G>C;ENST00000577775:exon3:c.446-1G>C)	.	.	0.999989072007339	0.932
18	22775209	C	T	18	25195245	y	y	splicing	ZNF521(NM_015461:exon6:c.3574-1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3574-1G>A;ENST00000584787:exon5:c.2914-1G>A;ENST00000399425:exon7:c.3654-1G>A;ENST00000538137:exon6:c.3574-1G>A;ENST00000577775:exon3:c.446-1G>A)	.	.	0.999989072007339	0.934
18	22775210	T	A	18	25195246	y	y	splicing	ZNF521(NM_015461:exon6:c.3574-2A>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3574-2A>T;ENST00000584787:exon5:c.2914-2A>T;ENST00000399425:exon7:c.3654-2A>T;ENST00000538137:exon6:c.3574-2A>T;ENST00000577775:exon3:c.446-2A>T)	.	.	0.999988247793601	0.926
18	22775210	T	C	18	25195246	y	y	splicing	ZNF521(NM_015461:exon6:c.3574-2A>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3574-2A>G;ENST00000584787:exon5:c.2914-2A>G;ENST00000399425:exon7:c.3654-2A>G;ENST00000538137:exon6:c.3574-2A>G;ENST00000577775:exon3:c.446-2A>G)	.	.	0.999988247793601	0.926
18	22775210	T	G	18	25195246	y	y	splicing	ZNF521(NM_015461:exon6:c.3574-2A>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon6:c.3574-2A>C;ENST00000584787:exon5:c.2914-2A>C;ENST00000399425:exon7:c.3654-2A>C;ENST00000538137:exon6:c.3574-2A>C;ENST00000577775:exon3:c.446-2A>C)	.	.	0.999988247793601	0.926
18	22775211	G	A	18	25195247	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0219819080521938	0.098
18	22775211	G	C	18	25195247	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.9991901035998	0.968
18	22775211	G	T	18	25195247	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.96625689832225	0.84
18	22775212	A	C	18	25195248	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00670788555590055	0.028
18	22775212	A	G	18	25195248	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00325698283939784	0.008
18	22775212	A	T	18	25195248	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00976704323562014	0.048
18	22775213	G	A	18	25195249	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00241564846213488	0.044
18	22775213	G	C	18	25195249	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.447669645622162	0.396
18	22775213	G	T	18	25195249	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.112707302236601	0.288
18	22775214	A	C	18	25195250	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.884088471072544	0.53
18	22775214	A	G	18	25195250	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.50455954813216E-4	0.076
18	22775214	A	T	18	25195250	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.443825754163481	0.466
18	22775215	A	C	18	25195251	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.97326907082354	0.65
18	22775215	A	G	18	25195251	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00207056557319194	0.082
18	22775215	A	T	18	25195251	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.989031907321097	0.882
18	22775216	A	C	18	25195252	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.457654190217418	0.41
18	22775216	A	G	18	25195252	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00230999285475334	0.032
18	22775216	A	T	18	25195252	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.833078144461135	0.656
18	22775217	A	C	18	25195253	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999357528428853	0.92
18	22775217	A	G	18	25195253	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.35994501265822	0.378
18	22775217	A	T	18	25195253	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999588357965544	0.876
18	22775218	C	A	18	25195254	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.1096636974375E-5	0.024
18	22775218	C	G	18	25195254	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.46940111967684E-5	0.03
18	22775218	C	T	18	25195254	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.92433813876949E-4	0.174
18	22775219	A	C	18	25195255	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999702915272746	0.93
18	22775219	A	G	18	25195255	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.993409067399307	0.604
18	22775219	A	T	18	25195255	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999986995319358	0.98
18	22775220	A	C	18	25195256	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.948321111051043	0.692
18	22775220	A	G	18	25195256	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0113885689605671	0.194
18	22775220	A	T	18	25195256	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.959007488614386	0.72
18	22803992	C	A	18	25224028	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.40244684246139E-4	0.018
18	22803992	C	G	18	25224028	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.40244684246139E-4	0.018
18	22803992	C	T	18	25224028	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.37866636152135E-4	0.018
18	22803993	A	C	18	25224029	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.821824429032E-4	0.002
18	22803993	A	G	18	25224029	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.821824429032E-4	0.002
18	22803993	A	T	18	25224029	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.88864756717333E-4	0.006
18	22803994	A	C	18	25224030	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.0180149904064E-5	0.0
18	22803994	A	G	18	25224030	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.0180149904064E-5	0.0
18	22803994	A	T	18	25224030	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.256915070725E-5	0.004
18	22803995	C	A	18	25224031	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.1548255067557E-5	0.002
18	22803995	C	G	18	25224031	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.1548255067557E-5	0.002
18	22803995	C	T	18	25224031	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.1548255067557E-5	0.0
18	22803996	T	A	18	25224032	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.10529984002121E-5	0.006
18	22803996	T	C	18	25224032	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.80465223468383E-5	0.004
18	22803996	T	G	18	25224032	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.80465223468383E-5	0.004
18	22803997	C	A	18	25224033	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.01163773767764E-5	0.0
18	22803997	C	G	18	25224033	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.01163773767764E-5	0.0
18	22803997	C	T	18	25224033	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	8.71037690926497E-5	0.002
18	22803998	A	C	18	25224034	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3653+2T>G)	.	.	2.68219155180855E-5	0.0
18	22803998	A	G	18	25224034	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3653+2T>C)	.	.	2.68219155180855E-5	0.0
18	22803998	A	T	18	25224034	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3653+2T>A)	.	.	4.14301101535901E-5	0.0
18	22803999	C	A	18	25224035	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3653+1G>T)	.	.	3.62279994356454E-5	0.004
18	22803999	C	G	18	25224035	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3653+1G>C)	.	.	3.62279994356454E-5	0.002
18	22803999	C	T	18	25224035	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3653+1G>A)	.	.	6.58461283867531E-5	0.006
18	22804000	G	A	18	25224036	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.C3653T:p.P1218L;	7.55948984093289E-5	0.016
18	22804000	G	C	18	25224036	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.C3653G:p.P1218R;	4.25881015839679E-5	0.058
18	22804000	G	T	18	25224036	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.C3653A:p.P1218Q;	1.01085973436922E-4	0.104
18	22804001	G	A	18	25224037	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.C3652T:p.P1218S;	0.00442941089883373	0.082
18	22804001	G	C	18	25224037	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.C3652G:p.P1218A;	0.00591435238370123	0.112
18	22804001	G	T	18	25224037	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.C3652A:p.P1218T;	0.00591435238370123	0.11
18	22804002	T	A	18	25224038	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.A3651T:p.S1217S;	4.51667491970482E-5	0.004
18	22804002	T	C	18	25224038	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.A3651G:p.S1217S;	4.51667491970482E-5	0.016
18	22804002	T	G	18	25224038	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.A3651C:p.S1217S;	4.51667491970482E-5	0.016
18	22804078	T	A	18	25224114	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.A3575T:p.D1192V;	1.77978745885032E-4	0.002
18	22804078	T	C	18	25224114	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.A3575G:p.D1192G;	4.77506818235143E-4	0.004
18	22804078	T	G	18	25224114	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.A3575C:p.D1192A;	1.77978745885032E-4	0.002
18	22804079	C	A	18	25224115	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.G3574T:p.D1192Y;	0.00779416249138407	0.076
18	22804079	C	G	18	25224115	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.G3574C:p.D1192H;	0.0102833320419941	0.08
18	22804079	C	T	18	25224115	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000399425:exon5:c.G3574A:p.D1192N;	0.0243156145864903	0.096
18	22804080	C	A	18	25224116	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3574-1G>T)	.	.	0.972710711965371	0.834
18	22804080	C	G	18	25224116	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3574-1G>C)	.	.	0.965239447252702	0.806
18	22804080	C	T	18	25224116	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3574-1G>A)	.	.	0.986152223221829	0.87
18	22804081	T	A	18	25224117	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3574-2A>T)	.	.	1.82254846753964E-4	0.002
18	22804081	T	C	18	25224117	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3574-2A>G)	.	.	1.32658667526046E-4	0.002
18	22804081	T	G	18	25224117	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000399425:exon6:c.3574-2A>C)	.	.	1.32658667526046E-4	0.002
18	22804082	A	C	18	25224118	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00535833632805705	0.018
18	22804082	A	G	18	25224118	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00535833632805705	0.018
18	22804082	A	T	18	25224118	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00917540930556089	0.02
18	22804083	G	A	18	25224119	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0179262649507423	0.052
18	22804083	G	C	18	25224119	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0179262649507423	0.05
18	22804083	G	T	18	25224119	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0179262649507423	0.06
18	22804084	G	A	18	25224120	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.47257796628657E-4	0.086
18	22804084	G	C	18	25224120	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.47257796628657E-4	0.056
18	22804084	G	T	18	25224120	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.47257796628657E-4	0.058
18	22804085	G	A	18	25224121	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0243156145864903	0.086
18	22804085	G	C	18	25224121	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0218013593461534	0.084
18	22804085	G	T	18	25224121	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0218013593461534	0.08
18	22804086	A	C	18	25224122	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00535833632805705	0.018
18	22804086	A	G	18	25224122	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00535833632805705	0.018
18	22804086	A	T	18	25224122	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00535833632805705	0.02
18	22804087	G	A	18	25224123	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0243156145864903	0.086
18	22804087	G	C	18	25224123	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0218013593461534	0.084
18	22804087	G	T	18	25224123	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0218013593461534	0.08
18	22804088	A	C	18	25224124	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0271718039049261	0.154
18	22804088	A	G	18	25224124	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0271718039049261	0.154
18	22804088	A	T	18	25224124	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0353323860210687	0.164
18	22804089	C	A	18	25224125	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.993733916693694	0.868
18	22804089	C	G	18	25224125	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.993733916693694	0.872
18	22804089	C	T	18	25224125	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.993733916693694	0.866
18	22804090	T	A	18	25224126	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0396071572689364	0.204
18	22804090	T	C	18	25224126	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0396071572689364	0.228
18	22804090	T	G	18	25224126	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0396071572689364	0.228
18	22804091	G	A	18	25224127	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.993733916693694	0.868
18	22804091	G	C	18	25224127	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.993733916693694	0.88
18	22804091	G	T	18	25224127	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.993733916693694	0.872
18	22804301	C	A	18	25224337	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00359937068514538	0.06
18	22804301	C	G	18	25224337	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00446343973142096	0.05
18	22804301	C	T	18	25224337	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00470467740757942	0.056
18	22804302	G	A	18	25224338	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.6558782046161E-4	0.016
18	22804302	G	C	18	25224338	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.71361058329681E-4	0.048
18	22804302	G	T	18	25224338	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.81425855717587E-5	0.0
18	22804303	A	C	18	25224339	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00151727895799057	0.226
18	22804303	A	G	18	25224339	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0239494946441819	0.258
18	22804303	A	T	18	25224339	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0286877418187601	0.244
18	22804304	G	A	18	25224340	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00102447748575624	0.074
18	22804304	G	C	18	25224340	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.69187928492854E-4	0.102
18	22804304	G	T	18	25224340	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00115671969322912	0.126
18	22804305	T	A	18	25224341	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.506870931689164	0.604
18	22804305	T	C	18	25224341	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.968411687346263	0.796
18	22804305	T	G	18	25224341	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.944842343098559	0.642
18	22804306	T	A	18	25224342	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999897849668984	0.982
18	22804306	T	C	18	25224342	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.99528422420412	0.934
18	22804306	T	G	18	25224342	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999958040240414	0.95
18	22804307	A	C	18	25224343	y	y	splicing	ZNF521(NM_015461:exon5:c.3573+2T>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.3573+2T>G;ENST00000584787:exon4:c.2913+2T>G;ENST00000399425:exon5:c.3573+2T>G;ENST00000538137:exon5:c.3573+2T>G;ENST00000577775:exon2:c.445+2T>G)	.	.	0.999988247793601	0.93
18	22804307	A	G	18	25224343	y	y	splicing	ZNF521(NM_015461:exon5:c.3573+2T>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.3573+2T>C;ENST00000584787:exon4:c.2913+2T>C;ENST00000399425:exon5:c.3573+2T>C;ENST00000538137:exon5:c.3573+2T>C;ENST00000577775:exon2:c.445+2T>C)	.	.	0.988163425542712	0.684
18	22804307	A	T	18	25224343	y	y	splicing	ZNF521(NM_015461:exon5:c.3573+2T>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.3573+2T>A;ENST00000584787:exon4:c.2913+2T>A;ENST00000399425:exon5:c.3573+2T>A;ENST00000538137:exon5:c.3573+2T>A;ENST00000577775:exon2:c.445+2T>A)	.	.	0.999988247793601	0.918
18	22804308	C	A	18	25224344	y	y	splicing	ZNF521(NM_015461:exon5:c.3573+1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.3573+1G>T;ENST00000584787:exon4:c.2913+1G>T;ENST00000399425:exon5:c.3573+1G>T;ENST00000538137:exon5:c.3573+1G>T;ENST00000577775:exon2:c.445+1G>T)	.	.	0.999990361384395	0.936
18	22804308	C	G	18	25224344	y	y	splicing	ZNF521(NM_015461:exon5:c.3573+1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.3573+1G>C;ENST00000584787:exon4:c.2913+1G>C;ENST00000399425:exon5:c.3573+1G>C;ENST00000538137:exon5:c.3573+1G>C;ENST00000577775:exon2:c.445+1G>C)	.	.	0.999990361384395	0.936
18	22804308	C	T	18	25224344	y	y	splicing	ZNF521(NM_015461:exon5:c.3573+1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.3573+1G>A;ENST00000584787:exon4:c.2913+1G>A;ENST00000399425:exon5:c.3573+1G>A;ENST00000538137:exon5:c.3573+1G>A;ENST00000577775:exon2:c.445+1G>A)	.	.	0.999990361384395	0.936
18	22804309	C	A	18	25224345	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.G3573T:p.E1191D;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.G3573T:p.E1191D;ENSG00000198795:ENST00000584787:exon3:c.G2913T:p.E971D;ENSG00000198795:ENST00000399425:exon4:c.G3573T:p.E1191D;ENSG00000198795:ENST00000361524:exon4:c.G3573T:p.E1191D;	0.999860218667915	0.974
18	22804309	C	G	18	25224345	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.G3573C:p.E1191D;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.G3573C:p.E1191D;ENSG00000198795:ENST00000584787:exon3:c.G2913C:p.E971D;ENSG00000198795:ENST00000399425:exon4:c.G3573C:p.E1191D;ENSG00000198795:ENST00000361524:exon4:c.G3573C:p.E1191D;	0.999932691356158	0.884
18	22804309	C	T	18	25224345	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon4:c.G3573A:p.E1191E;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.G3573A:p.E1191E;ENSG00000198795:ENST00000584787:exon3:c.G2913A:p.E971E;ENSG00000198795:ENST00000399425:exon4:c.G3573A:p.E1191E;ENSG00000198795:ENST00000361524:exon4:c.G3573A:p.E1191E;	0.999722152811703	0.982
18	22804310	T	A	18	25224346	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.A3572T:p.E1191V;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.A3572T:p.E1191V;ENSG00000198795:ENST00000584787:exon3:c.A2912T:p.E971V;ENSG00000198795:ENST00000399425:exon4:c.A3572T:p.E1191V;ENSG00000198795:ENST00000361524:exon4:c.A3572T:p.E1191V;	0.999466246274761	0.754
18	22804310	T	C	18	25224346	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.A3572G:p.E1191G;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.A3572G:p.E1191G;ENSG00000198795:ENST00000584787:exon3:c.A2912G:p.E971G;ENSG00000198795:ENST00000399425:exon4:c.A3572G:p.E1191G;ENSG00000198795:ENST00000361524:exon4:c.A3572G:p.E1191G;	0.998643486641858	0.748
18	22804310	T	G	18	25224346	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.A3572C:p.E1191A;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.A3572C:p.E1191A;ENSG00000198795:ENST00000584787:exon3:c.A2912C:p.E971A;ENSG00000198795:ENST00000399425:exon4:c.A3572C:p.E1191A;ENSG00000198795:ENST00000361524:exon4:c.A3572C:p.E1191A;	0.944814604158059	0.664
18	22804311	C	A	18	25224347	y	y	exonic	ZNF521	stopgain SNV	ZNF521:NM_015461:exon4:c.G3571T:p.E1191X;	exonic	ENSG00000198795	stopgain SNV	ENSG00000198795:ENST00000538137:exon4:c.G3571T:p.E1191X;ENSG00000198795:ENST00000584787:exon3:c.G2911T:p.E971X;ENSG00000198795:ENST00000399425:exon4:c.G3571T:p.E1191X;ENSG00000198795:ENST00000361524:exon4:c.G3571T:p.E1191X;	0.983115718852417	0.814
18	22804311	C	G	18	25224347	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.G3571C:p.E1191Q;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.G3571C:p.E1191Q;ENSG00000198795:ENST00000584787:exon3:c.G2911C:p.E971Q;ENSG00000198795:ENST00000399425:exon4:c.G3571C:p.E1191Q;ENSG00000198795:ENST00000361524:exon4:c.G3571C:p.E1191Q;	0.00502873211063392	0.03
18	22804311	C	T	18	25224347	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.G3571A:p.E1191K;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.G3571A:p.E1191K;ENSG00000198795:ENST00000584787:exon3:c.G2911A:p.E971K;ENSG00000198795:ENST00000399425:exon4:c.G3571A:p.E1191K;ENSG00000198795:ENST00000361524:exon4:c.G3571A:p.E1191K;	0.254365111489112	0.39
18	22807660	A	C	18	25227696	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.T222G:p.D74E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.T222G:p.D74E;ENSG00000198795:ENST00000577801:exon4:c.T222G:p.D74E;ENSG00000198795:ENST00000580488:exon4:c.T222G:p.D74E;ENSG00000198795:ENST00000399425:exon4:c.T222G:p.D74E;ENSG00000198795:ENST00000361524:exon4:c.T222G:p.D74E;	0.0627760247337533	0.276
18	22807660	A	G	18	25227696	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon4:c.T222C:p.D74D;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.T222C:p.D74D;ENSG00000198795:ENST00000577801:exon4:c.T222C:p.D74D;ENSG00000198795:ENST00000580488:exon4:c.T222C:p.D74D;ENSG00000198795:ENST00000399425:exon4:c.T222C:p.D74D;ENSG00000198795:ENST00000361524:exon4:c.T222C:p.D74D;	0.0174030888396867	0.212
18	22807660	A	T	18	25227696	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.T222A:p.D74E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.T222A:p.D74E;ENSG00000198795:ENST00000577801:exon4:c.T222A:p.D74E;ENSG00000198795:ENST00000580488:exon4:c.T222A:p.D74E;ENSG00000198795:ENST00000399425:exon4:c.T222A:p.D74E;ENSG00000198795:ENST00000361524:exon4:c.T222A:p.D74E;	0.0433308601560644	0.248
18	22807661	T	A	18	25227697	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.A221T:p.D74V;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.A221T:p.D74V;ENSG00000198795:ENST00000577801:exon4:c.A221T:p.D74V;ENSG00000198795:ENST00000580488:exon4:c.A221T:p.D74V;ENSG00000198795:ENST00000399425:exon4:c.A221T:p.D74V;ENSG00000198795:ENST00000361524:exon4:c.A221T:p.D74V;	0.0927293676750702	0.27
18	22807661	T	C	18	25227697	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.A221G:p.D74G;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.A221G:p.D74G;ENSG00000198795:ENST00000577801:exon4:c.A221G:p.D74G;ENSG00000198795:ENST00000580488:exon4:c.A221G:p.D74G;ENSG00000198795:ENST00000399425:exon4:c.A221G:p.D74G;ENSG00000198795:ENST00000361524:exon4:c.A221G:p.D74G;	0.00153372169374672	0.018
18	22807661	T	G	18	25227697	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon4:c.A221C:p.D74A;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon4:c.A221C:p.D74A;ENSG00000198795:ENST00000577801:exon4:c.A221C:p.D74A;ENSG00000198795:ENST00000580488:exon4:c.A221C:p.D74A;ENSG00000198795:ENST00000399425:exon4:c.A221C:p.D74A;ENSG00000198795:ENST00000361524:exon4:c.A221C:p.D74A;	0.0259168182934542	0.176
18	22807662	C	A	18	25227698	y	y	splicing	ZNF521(NM_015461:exon5:c.221-1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.221-1G>T;ENST00000399425:exon5:c.221-1G>T;ENST00000538137:exon5:c.221-1G>T;ENST00000577720:exon3:c.61-1G>T;ENST00000577801:exon5:c.221-1G>T;ENST00000580488:exon5:c.221-1G>T)	.	.	0.999990361384395	0.938
18	22807662	C	G	18	25227698	y	y	splicing	ZNF521(NM_015461:exon5:c.221-1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.221-1G>C;ENST00000399425:exon5:c.221-1G>C;ENST00000538137:exon5:c.221-1G>C;ENST00000577720:exon3:c.61-1G>C;ENST00000577801:exon5:c.221-1G>C;ENST00000580488:exon5:c.221-1G>C)	.	.	0.999990361384395	0.938
18	22807662	C	T	18	25227698	y	y	splicing	ZNF521(NM_015461:exon5:c.221-1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.221-1G>A;ENST00000399425:exon5:c.221-1G>A;ENST00000538137:exon5:c.221-1G>A;ENST00000577720:exon3:c.61-1G>A;ENST00000577801:exon5:c.221-1G>A;ENST00000580488:exon5:c.221-1G>A)	.	.	0.999990361384395	0.938
18	22807663	T	A	18	25227699	y	y	splicing	ZNF521(NM_015461:exon5:c.221-2A>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.221-2A>T;ENST00000399425:exon5:c.221-2A>T;ENST00000538137:exon5:c.221-2A>T;ENST00000577720:exon3:c.61-2A>T;ENST00000577801:exon5:c.221-2A>T;ENST00000580488:exon5:c.221-2A>T)	.	.	0.999988247793601	0.926
18	22807663	T	C	18	25227699	y	y	splicing	ZNF521(NM_015461:exon5:c.221-2A>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.221-2A>G;ENST00000399425:exon5:c.221-2A>G;ENST00000538137:exon5:c.221-2A>G;ENST00000577720:exon3:c.61-2A>G;ENST00000577801:exon5:c.221-2A>G;ENST00000580488:exon5:c.221-2A>G)	.	.	0.999978952611685	0.928
18	22807663	T	G	18	25227699	y	y	splicing	ZNF521(NM_015461:exon5:c.221-2A>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon5:c.221-2A>C;ENST00000399425:exon5:c.221-2A>C;ENST00000538137:exon5:c.221-2A>C;ENST00000577720:exon3:c.61-2A>C;ENST00000577801:exon5:c.221-2A>C;ENST00000580488:exon5:c.221-2A>C)	.	.	0.999978952611685	0.928
18	22807664	G	A	18	25227700	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.08197209188907	0.25
18	22807664	G	C	18	25227700	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999701336351672	0.962
18	22807664	G	T	18	25227700	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999868564870658	0.814
18	22807665	C	A	18	25227701	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00139656819083217	0.01
18	22807665	C	G	18	25227701	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.96935459887145E-4	0.006
18	22807665	C	T	18	25227701	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00172060652917479	0.034
18	22807666	A	C	18	25227702	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.87618106319163	0.538
18	22807666	A	G	18	25227702	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00893503762091891	0.2
18	22807666	A	T	18	25227702	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999884920895805	0.94
18	22807667	A	C	18	25227703	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0351438053464081	0.294
18	22807667	A	G	18	25227703	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.1474053071203E-4	0.02
18	22807667	A	T	18	25227703	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0389846503149063	0.272
18	22807668	C	A	18	25227704	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.0241639572211E-5	0.006
18	22807668	C	G	18	25227704	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.58182337812515E-5	0.014
18	22807668	C	T	18	25227704	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.07288538357227E-5	0.008
18	22807669	A	C	18	25227705	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.55665751093749E-4	0.038
18	22807669	A	G	18	25227705	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.18284266108581E-5	0.0
18	22807669	A	T	18	25227705	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.973503864474121	0.908
18	22807670	A	C	18	25227706	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.309932296181844	0.502
18	22807670	A	G	18	25227706	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00434850218084514	0.174
18	22807670	A	T	18	25227706	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.301251523274658	0.496
18	22807671	G	A	18	25227707	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.91320489499667E-5	0.002
18	22807671	G	C	18	25227707	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.04345333583697E-4	0.106
18	22807671	G	T	18	25227707	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.03470376172081E-4	0.08
18	22807672	A	C	18	25227708	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0334071846574944	0.388
18	22807672	A	G	18	25227708	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00149740567374022	0.12
18	22807672	A	T	18	25227708	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.323030921656348	0.464
18	22807673	A	C	18	25227709	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.092000665570404	0.492
18	22807673	A	G	18	25227709	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.59715314013023E-4	0.012
18	22807673	A	T	18	25227709	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0700787176402668	0.484
18	22811427	C	A	18	25231463	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00191846453409559	0.036
18	22811427	C	G	18	25231463	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00161864645900532	0.026
18	22811427	C	T	18	25231463	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00103141308129366	0.04
18	22811428	A	C	18	25231464	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.36054613724236E-5	0.014
18	22811428	A	G	18	25231464	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.4663023071037E-5	0.014
18	22811428	A	T	18	25231464	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.47073411157876E-5	0.018
18	22811429	G	A	18	25231465	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.14155790924668E-5	0.012
18	22811429	G	C	18	25231465	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.14155790924668E-5	0.012
18	22811429	G	T	18	25231465	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.14155790924668E-5	0.012
18	22811430	A	C	18	25231466	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00676312259178108	0.024
18	22811430	A	G	18	25231466	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00676312259178108	0.02
18	22811430	A	T	18	25231466	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.006894648927926	0.022
18	22811431	G	A	18	25231467	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.95175158992075E-4	0.008
18	22811431	G	C	18	25231467	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00109596130064732	0.008
18	22811431	G	T	18	25231467	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.63178738705188E-4	0.012
18	22811432	T	A	18	25231468	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.51591174045998E-4	0.012
18	22811432	T	C	18	25231468	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.51591174045998E-4	0.008
18	22811432	T	G	18	25231468	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.51591174045998E-4	0.01
18	22811433	A	C	18	25231469	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577720:exon2:c.60+2T>G)	.	.	8.94951672584391E-5	0.012
18	22811433	A	G	18	25231469	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577720:exon2:c.60+2T>C)	.	.	8.94951672584391E-5	0.014
18	22811433	A	T	18	25231469	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577720:exon2:c.60+2T>A)	.	.	6.12034596408203E-5	0.008
18	22811434	C	A	18	25231470	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577720:exon2:c.60+1G>T)	.	.	4.22959446752711E-4	0.014
18	22811434	C	G	18	25231470	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577720:exon2:c.60+1G>C)	.	.	4.22959446752711E-4	0.012
18	22811434	C	T	18	25231470	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795(ENST00000577720:exon2:c.60+1G>A)	.	.	3.83724334551024E-4	0.008
18	22811435	C	A	18	25231471	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	2.38927251982123E-4	0.014
18	22811435	C	G	18	25231471	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	3.11607729602943E-4	0.01
18	22811435	C	T	18	25231471	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	3.32184421894896E-4	0.002
18	22811436	T	A	18	25231472	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	1.52951581735779E-4	0.002
18	22811436	T	C	18	25231472	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	2.17503189594235E-4	0.002
18	22811436	T	G	18	25231472	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	1.51591174045998E-4	0.016
18	22811437	T	A	18	25231473	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	1.51591174045998E-4	0.004
18	22811437	T	C	18	25231473	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	1.51591174045998E-4	0.004
18	22811437	T	G	18	25231473	n	y	intronic	ZNF521	.	.	exonic	ENSG00000198795	unknown	UNKNOWN	1.38175242962214E-4	0.008
18	22901964	T	A	18	25322000	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.07482394548549E-4	0.0
18	22901964	T	C	18	25322000	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.73960925183517E-5	0.0
18	22901964	T	G	18	25322000	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.73960925183517E-5	0.0
18	22901965	T	A	18	25322001	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.95987868460447	0.44
18	22901965	T	C	18	25322001	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.732759304406645	0.48
18	22901965	T	G	18	25322001	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.445600875830507	0.552
18	22901966	G	A	18	25322002	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.720476229915275	0.458
18	22901966	G	C	18	25322002	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.594825179424978	0.536
18	22901966	G	T	18	25322002	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.927657947742673	0.672
18	22901967	T	A	18	25322003	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.924822021810174	0.534
18	22901967	T	C	18	25322003	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0854549530806567	0.116
18	22901967	T	G	18	25322003	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.559396135630412	0.508
18	22901968	T	A	18	25322004	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999254202524388	0.9
18	22901968	T	C	18	25322004	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.995604378592915	0.898
18	22901968	T	G	18	25322004	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.995822908704885	0.912
18	22901969	T	A	18	25322005	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999974098288405	0.906
18	22901969	T	C	18	25322005	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999732467941991	0.908
18	22901969	T	G	18	25322005	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999981501667643	0.902
18	22901970	A	C	18	25322006	y	y	splicing	ZNF521(NM_015461:exon4:c.220+2T>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.220+2T>G;ENST00000399425:exon4:c.220+2T>G;ENST00000538137:exon4:c.220+2T>G;ENST00000577801:exon4:c.220+2T>G;ENST00000580488:exon4:c.220+2T>G)	.	.	0.999988247793601	0.932
18	22901970	A	G	18	25322006	y	y	splicing	ZNF521(NM_015461:exon4:c.220+2T>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.220+2T>C;ENST00000399425:exon4:c.220+2T>C;ENST00000538137:exon4:c.220+2T>C;ENST00000577801:exon4:c.220+2T>C;ENST00000580488:exon4:c.220+2T>C)	.	.	0.995320650369382	0.682
18	22901970	A	T	18	25322006	y	y	splicing	ZNF521(NM_015461:exon4:c.220+2T>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.220+2T>A;ENST00000399425:exon4:c.220+2T>A;ENST00000538137:exon4:c.220+2T>A;ENST00000577801:exon4:c.220+2T>A;ENST00000580488:exon4:c.220+2T>A)	.	.	0.999988247793601	0.932
18	22901971	C	A	18	25322007	y	y	splicing	ZNF521(NM_015461:exon4:c.220+1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.220+1G>T;ENST00000399425:exon4:c.220+1G>T;ENST00000538137:exon4:c.220+1G>T;ENST00000577801:exon4:c.220+1G>T;ENST00000580488:exon4:c.220+1G>T)	.	.	0.999990361384395	0.938
18	22901971	C	G	18	25322007	y	y	splicing	ZNF521(NM_015461:exon4:c.220+1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.220+1G>C;ENST00000399425:exon4:c.220+1G>C;ENST00000538137:exon4:c.220+1G>C;ENST00000577801:exon4:c.220+1G>C;ENST00000580488:exon4:c.220+1G>C)	.	.	0.999990361384395	0.938
18	22901971	C	T	18	25322007	y	y	splicing	ZNF521(NM_015461:exon4:c.220+1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.220+1G>A;ENST00000399425:exon4:c.220+1G>A;ENST00000538137:exon4:c.220+1G>A;ENST00000577801:exon4:c.220+1G>A;ENST00000580488:exon4:c.220+1G>A)	.	.	0.999990361384395	0.938
18	22901972	C	A	18	25322008	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.G220T:p.D74Y;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.G220T:p.D74Y;ENSG00000198795:ENST00000577801:exon3:c.G220T:p.D74Y;ENSG00000198795:ENST00000580488:exon3:c.G220T:p.D74Y;ENSG00000198795:ENST00000399425:exon3:c.G220T:p.D74Y;ENSG00000198795:ENST00000361524:exon3:c.G220T:p.D74Y;	0.999967307425692	0.998
18	22901972	C	G	18	25322008	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.G220C:p.D74H;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.G220C:p.D74H;ENSG00000198795:ENST00000577801:exon3:c.G220C:p.D74H;ENSG00000198795:ENST00000580488:exon3:c.G220C:p.D74H;ENSG00000198795:ENST00000399425:exon3:c.G220C:p.D74H;ENSG00000198795:ENST00000361524:exon3:c.G220C:p.D74H;	0.999988811662098	1.0
18	22901972	C	T	18	25322008	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.G220A:p.D74N;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.G220A:p.D74N;ENSG00000198795:ENST00000577801:exon3:c.G220A:p.D74N;ENSG00000198795:ENST00000580488:exon3:c.G220A:p.D74N;ENSG00000198795:ENST00000399425:exon3:c.G220A:p.D74N;ENSG00000198795:ENST00000361524:exon3:c.G220A:p.D74N;	0.999990056849429	1.0
18	22901973	T	A	18	25322009	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon3:c.A219T:p.T73T;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.A219T:p.T73T;ENSG00000198795:ENST00000577801:exon3:c.A219T:p.T73T;ENSG00000198795:ENST00000580488:exon3:c.A219T:p.T73T;ENSG00000198795:ENST00000399425:exon3:c.A219T:p.T73T;ENSG00000198795:ENST00000361524:exon3:c.A219T:p.T73T;	0.997453921057789	0.906
18	22901973	T	C	18	25322009	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon3:c.A219G:p.T73T;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.A219G:p.T73T;ENSG00000198795:ENST00000577801:exon3:c.A219G:p.T73T;ENSG00000198795:ENST00000580488:exon3:c.A219G:p.T73T;ENSG00000198795:ENST00000399425:exon3:c.A219G:p.T73T;ENSG00000198795:ENST00000361524:exon3:c.A219G:p.T73T;	0.996661246030525	0.872
18	22901973	T	G	18	25322009	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon3:c.A219C:p.T73T;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.A219C:p.T73T;ENSG00000198795:ENST00000577801:exon3:c.A219C:p.T73T;ENSG00000198795:ENST00000580488:exon3:c.A219C:p.T73T;ENSG00000198795:ENST00000399425:exon3:c.A219C:p.T73T;ENSG00000198795:ENST00000361524:exon3:c.A219C:p.T73T;	0.951240667981899	0.8
18	22901974	G	A	18	25322010	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.C218T:p.T73I;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.C218T:p.T73I;ENSG00000198795:ENST00000577801:exon3:c.C218T:p.T73I;ENSG00000198795:ENST00000580488:exon3:c.C218T:p.T73I;ENSG00000198795:ENST00000399425:exon3:c.C218T:p.T73I;ENSG00000198795:ENST00000361524:exon3:c.C218T:p.T73I;	0.999753553301639	0.936
18	22901974	G	C	18	25322010	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.C218G:p.T73R;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.C218G:p.T73R;ENSG00000198795:ENST00000577801:exon3:c.C218G:p.T73R;ENSG00000198795:ENST00000580488:exon3:c.C218G:p.T73R;ENSG00000198795:ENST00000399425:exon3:c.C218G:p.T73R;ENSG00000198795:ENST00000361524:exon3:c.C218G:p.T73R;	0.954047343084526	0.588
18	22901974	G	T	18	25322010	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.C218A:p.T73K;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.C218A:p.T73K;ENSG00000198795:ENST00000577801:exon3:c.C218A:p.T73K;ENSG00000198795:ENST00000580488:exon3:c.C218A:p.T73K;ENSG00000198795:ENST00000399425:exon3:c.C218A:p.T73K;ENSG00000198795:ENST00000361524:exon3:c.C218A:p.T73K;	0.913290281694645	0.75
18	22902150	G	A	18	25322186	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon3:c.C42T:p.D14D;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.C42T:p.D14D;ENSG00000198795:ENST00000577801:exon3:c.C42T:p.D14D;ENSG00000198795:ENST00000577461:exon2:c.C42T:p.D14D;ENSG00000198795:ENST00000580488:exon3:c.C42T:p.D14D;ENSG00000198795:ENST00000399425:exon3:c.C42T:p.D14D;ENSG00000198795:ENST00000361524:exon3:c.C42T:p.D14D;	0.0422892586178785	0.224
18	22902150	G	C	18	25322186	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.C42G:p.D14E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.C42G:p.D14E;ENSG00000198795:ENST00000577801:exon3:c.C42G:p.D14E;ENSG00000198795:ENST00000577461:exon2:c.C42G:p.D14E;ENSG00000198795:ENST00000580488:exon3:c.C42G:p.D14E;ENSG00000198795:ENST00000399425:exon3:c.C42G:p.D14E;ENSG00000198795:ENST00000361524:exon3:c.C42G:p.D14E;	4.85412544988958E-4	0.056
18	22902150	G	T	18	25322186	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.C42A:p.D14E;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.C42A:p.D14E;ENSG00000198795:ENST00000577801:exon3:c.C42A:p.D14E;ENSG00000198795:ENST00000577461:exon2:c.C42A:p.D14E;ENSG00000198795:ENST00000580488:exon3:c.C42A:p.D14E;ENSG00000198795:ENST00000399425:exon3:c.C42A:p.D14E;ENSG00000198795:ENST00000361524:exon3:c.C42A:p.D14E;	0.00482235004314472	0.116
18	22902151	T	A	18	25322187	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.A41T:p.D14V;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.A41T:p.D14V;ENSG00000198795:ENST00000577801:exon3:c.A41T:p.D14V;ENSG00000198795:ENST00000577461:exon2:c.A41T:p.D14V;ENSG00000198795:ENST00000580488:exon3:c.A41T:p.D14V;ENSG00000198795:ENST00000399425:exon3:c.A41T:p.D14V;ENSG00000198795:ENST00000361524:exon3:c.A41T:p.D14V;	0.750250168030793	0.47
18	22902151	T	C	18	25322187	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.A41G:p.D14G;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.A41G:p.D14G;ENSG00000198795:ENST00000577801:exon3:c.A41G:p.D14G;ENSG00000198795:ENST00000577461:exon2:c.A41G:p.D14G;ENSG00000198795:ENST00000580488:exon3:c.A41G:p.D14G;ENSG00000198795:ENST00000399425:exon3:c.A41G:p.D14G;ENSG00000198795:ENST00000361524:exon3:c.A41G:p.D14G;	0.076230175835575	0.302
18	22902151	T	G	18	25322187	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon3:c.A41C:p.D14A;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon3:c.A41C:p.D14A;ENSG00000198795:ENST00000577801:exon3:c.A41C:p.D14A;ENSG00000198795:ENST00000577461:exon2:c.A41C:p.D14A;ENSG00000198795:ENST00000580488:exon3:c.A41C:p.D14A;ENSG00000198795:ENST00000399425:exon3:c.A41C:p.D14A;ENSG00000198795:ENST00000361524:exon3:c.A41C:p.D14A;	0.901427689334959	0.638
18	22902152	C	A	18	25322188	y	y	splicing	ZNF521(NM_015461:exon4:c.41-1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.41-1G>T;ENST00000399425:exon4:c.41-1G>T;ENST00000538137:exon4:c.41-1G>T;ENST00000577801:exon4:c.41-1G>T;ENST00000580488:exon4:c.41-1G>T;ENST00000577461:exon3:c.41-1G>T)	.	.	0.999990361384395	0.952
18	22902152	C	G	18	25322188	y	y	splicing	ZNF521(NM_015461:exon4:c.41-1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.41-1G>C;ENST00000399425:exon4:c.41-1G>C;ENST00000538137:exon4:c.41-1G>C;ENST00000577801:exon4:c.41-1G>C;ENST00000580488:exon4:c.41-1G>C;ENST00000577461:exon3:c.41-1G>C)	.	.	0.999990361384395	0.952
18	22902152	C	T	18	25322188	y	y	splicing	ZNF521(NM_015461:exon4:c.41-1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.41-1G>A;ENST00000399425:exon4:c.41-1G>A;ENST00000538137:exon4:c.41-1G>A;ENST00000577801:exon4:c.41-1G>A;ENST00000580488:exon4:c.41-1G>A;ENST00000577461:exon3:c.41-1G>A)	.	.	0.999990361384395	0.952
18	22902153	T	A	18	25322189	y	y	splicing	ZNF521(NM_015461:exon4:c.41-2A>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.41-2A>T;ENST00000399425:exon4:c.41-2A>T;ENST00000538137:exon4:c.41-2A>T;ENST00000577801:exon4:c.41-2A>T;ENST00000580488:exon4:c.41-2A>T;ENST00000577461:exon3:c.41-2A>T)	.	.	0.999988247793601	0.954
18	22902153	T	C	18	25322189	y	y	splicing	ZNF521(NM_015461:exon4:c.41-2A>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.41-2A>G;ENST00000399425:exon4:c.41-2A>G;ENST00000538137:exon4:c.41-2A>G;ENST00000577801:exon4:c.41-2A>G;ENST00000580488:exon4:c.41-2A>G;ENST00000577461:exon3:c.41-2A>G)	.	.	0.999988247793601	0.954
18	22902153	T	G	18	25322189	y	y	splicing	ZNF521(NM_015461:exon4:c.41-2A>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon4:c.41-2A>C;ENST00000399425:exon4:c.41-2A>C;ENST00000538137:exon4:c.41-2A>C;ENST00000577801:exon4:c.41-2A>C;ENST00000580488:exon4:c.41-2A>C;ENST00000577461:exon3:c.41-2A>C)	.	.	0.999988247793601	0.954
18	22902154	G	A	18	25322190	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999087301895432	0.554
18	22902154	G	C	18	25322190	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999939213988486	0.988
18	22902154	G	T	18	25322190	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999945093683065	0.968
18	22902155	A	C	18	25322191	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.026889788726762	0.188
18	22902155	A	G	18	25322191	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00398293697031671	0.16
18	22902155	A	T	18	25322191	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00323588250868528	0.046
18	22902156	A	C	18	25322192	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.998912642842578	0.9
18	22902156	A	G	18	25322192	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0724415974616163	0.166
18	22902156	A	T	18	25322192	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.99543799343268	0.86
18	22902157	A	C	18	25322193	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.938370513815975	0.754
18	22902157	A	G	18	25322193	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.21587917567938E-4	0.11
18	22902157	A	T	18	25322193	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.947262492389029	0.752
18	22902158	A	C	18	25322194	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0613545837532554	0.262
18	22902158	A	G	18	25322194	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.00658776118528E-5	0.03
18	22902158	A	T	18	25322194	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0643602200210471	0.284
18	22902159	A	C	18	25322195	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999872214777953	0.968
18	22902159	A	G	18	25322195	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.522473742202984	0.516
18	22902159	A	T	18	25322195	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.99933158408661	0.864
18	22902160	T	A	18	25322196	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	8.63709095180432E-5	0.148
18	22902160	T	C	18	25322196	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.67912339893254E-4	0.13
18	22902160	T	G	18	25322196	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.92154981946941E-5	0.154
18	22902161	A	C	18	25322197	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999988278619718	0.97
18	22902161	A	G	18	25322197	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.903742713208412	0.514
18	22902161	A	T	18	25322197	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999743404399216	0.912
18	22902162	T	A	18	25322198	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.29055836835787E-5	0.066
18	22902162	T	C	18	25322198	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.67967650154735E-5	0.02
18	22902162	T	G	18	25322198	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.10323032110016E-5	0.008
18	22902163	C	A	18	25322199	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.270931148789021	0.452
18	22902163	C	G	18	25322199	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.270931148789021	0.524
18	22902163	C	T	18	25322199	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.781594652809537	0.596
18	22930863	C	A	18	25350899	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0102170212523023	0.036
18	22930863	C	G	18	25350899	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0102170212523023	0.038
18	22930863	C	T	18	25350899	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0157616667572353	0.038
18	22930864	T	A	18	25350900	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.7706656673938E-4	0.006
18	22930864	T	C	18	25350900	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	1.7706656673938E-4	0.006
18	22930864	T	G	18	25350900	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.55917579810352E-4	0.006
18	22930865	C	A	18	25350901	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	9.25085714002327E-5	0.002
18	22930865	C	G	18	25350901	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00127393336182501	0.02
18	22930865	C	T	18	25350901	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.42558051516661E-4	0.008
18	22930866	C	A	18	25350902	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.857122080679509	0.472
18	22930866	C	G	18	25350902	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.560077348553812	0.586
18	22930866	C	T	18	25350902	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.949149121966098	0.574
18	22930867	T	A	18	25350903	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.546503175683307	0.296
18	22930867	T	C	18	25350903	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.901830211472277	0.442
18	22930867	T	G	18	25350903	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.482507866824757	0.328
18	22930868	T	A	18	25350904	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.985195203334385	0.714
18	22930868	T	C	18	25350904	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00501283223065269	0.108
18	22930868	T	G	18	25350904	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.996674992909211	0.834
18	22930869	A	C	18	25350905	y	y	splicing	ZNF521(NM_015461:exon3:c.40+2T>G)	.	.	splicing	ENSG00000198795(ENST00000361524:exon3:c.40+2T>G;ENST00000399425:exon3:c.40+2T>G;ENST00000538137:exon3:c.40+2T>G;ENST00000577801:exon3:c.40+2T>G;ENST00000580488:exon3:c.40+2T>G;ENST00000577461:exon2:c.40+2T>G)	.	.	0.999993672935256	0.928
18	22930869	A	G	18	25350905	y	y	splicing	ZNF521(NM_015461:exon3:c.40+2T>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon3:c.40+2T>C;ENST00000399425:exon3:c.40+2T>C;ENST00000538137:exon3:c.40+2T>C;ENST00000577801:exon3:c.40+2T>C;ENST00000580488:exon3:c.40+2T>C;ENST00000577461:exon2:c.40+2T>C)	.	.	0.983192923323245	0.592
18	22930869	A	T	18	25350905	y	y	splicing	ZNF521(NM_015461:exon3:c.40+2T>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon3:c.40+2T>A;ENST00000399425:exon3:c.40+2T>A;ENST00000538137:exon3:c.40+2T>A;ENST00000577801:exon3:c.40+2T>A;ENST00000580488:exon3:c.40+2T>A;ENST00000577461:exon2:c.40+2T>A)	.	.	0.999993672935256	0.928
18	22930870	C	A	18	25350906	y	y	splicing	ZNF521(NM_015461:exon3:c.40+1G>T)	.	.	splicing	ENSG00000198795(ENST00000361524:exon3:c.40+1G>T;ENST00000399425:exon3:c.40+1G>T;ENST00000538137:exon3:c.40+1G>T;ENST00000577801:exon3:c.40+1G>T;ENST00000580488:exon3:c.40+1G>T;ENST00000577461:exon2:c.40+1G>T)	.	.	0.999988247793601	0.926
18	22930870	C	G	18	25350906	y	y	splicing	ZNF521(NM_015461:exon3:c.40+1G>C)	.	.	splicing	ENSG00000198795(ENST00000361524:exon3:c.40+1G>C;ENST00000399425:exon3:c.40+1G>C;ENST00000538137:exon3:c.40+1G>C;ENST00000577801:exon3:c.40+1G>C;ENST00000580488:exon3:c.40+1G>C;ENST00000577461:exon2:c.40+1G>C)	.	.	0.999988247793601	0.926
18	22930870	C	T	18	25350906	y	y	splicing	ZNF521(NM_015461:exon3:c.40+1G>A)	.	.	splicing	ENSG00000198795(ENST00000361524:exon3:c.40+1G>A;ENST00000399425:exon3:c.40+1G>A;ENST00000538137:exon3:c.40+1G>A;ENST00000577801:exon3:c.40+1G>A;ENST00000580488:exon3:c.40+1G>A;ENST00000577461:exon2:c.40+1G>A)	.	.	0.999988247793601	0.926
18	22930871	C	A	18	25350907	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.G40T:p.D14Y;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.G40T:p.D14Y;ENSG00000198795:ENST00000577801:exon2:c.G40T:p.D14Y;ENSG00000198795:ENST00000577461:exon1:c.G40T:p.D14Y;ENSG00000198795:ENST00000580488:exon2:c.G40T:p.D14Y;ENSG00000198795:ENST00000399425:exon2:c.G40T:p.D14Y;ENSG00000198795:ENST00000361524:exon2:c.G40T:p.D14Y;	0.995971811000924	0.932
18	22930871	C	G	18	25350907	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.G40C:p.D14H;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.G40C:p.D14H;ENSG00000198795:ENST00000577801:exon2:c.G40C:p.D14H;ENSG00000198795:ENST00000577461:exon1:c.G40C:p.D14H;ENSG00000198795:ENST00000580488:exon2:c.G40C:p.D14H;ENSG00000198795:ENST00000399425:exon2:c.G40C:p.D14H;ENSG00000198795:ENST00000361524:exon2:c.G40C:p.D14H;	0.999182560047597	0.928
18	22930871	C	T	18	25350907	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.G40A:p.D14N;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.G40A:p.D14N;ENSG00000198795:ENST00000577801:exon2:c.G40A:p.D14N;ENSG00000198795:ENST00000577461:exon1:c.G40A:p.D14N;ENSG00000198795:ENST00000580488:exon2:c.G40A:p.D14N;ENSG00000198795:ENST00000399425:exon2:c.G40A:p.D14N;ENSG00000198795:ENST00000361524:exon2:c.G40A:p.D14N;	0.99914427844575	0.946
18	22930872	T	A	18	25350908	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.A39T:p.K13N;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A39T:p.K13N;ENSG00000198795:ENST00000577801:exon2:c.A39T:p.K13N;ENSG00000198795:ENST00000577461:exon1:c.A39T:p.K13N;ENSG00000198795:ENST00000580488:exon2:c.A39T:p.K13N;ENSG00000198795:ENST00000399425:exon2:c.A39T:p.K13N;ENSG00000198795:ENST00000361524:exon2:c.A39T:p.K13N;	0.97273054283388	0.616
18	22930872	T	C	18	25350908	y	y	exonic	ZNF521	synonymous SNV	ZNF521:NM_015461:exon2:c.A39G:p.K13K;	exonic	ENSG00000198795	synonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A39G:p.K13K;ENSG00000198795:ENST00000577801:exon2:c.A39G:p.K13K;ENSG00000198795:ENST00000577461:exon1:c.A39G:p.K13K;ENSG00000198795:ENST00000580488:exon2:c.A39G:p.K13K;ENSG00000198795:ENST00000399425:exon2:c.A39G:p.K13K;ENSG00000198795:ENST00000361524:exon2:c.A39G:p.K13K;	0.981865688246202	0.884
18	22930872	T	G	18	25350908	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.A39C:p.K13N;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A39C:p.K13N;ENSG00000198795:ENST00000577801:exon2:c.A39C:p.K13N;ENSG00000198795:ENST00000577461:exon1:c.A39C:p.K13N;ENSG00000198795:ENST00000580488:exon2:c.A39C:p.K13N;ENSG00000198795:ENST00000399425:exon2:c.A39C:p.K13N;ENSG00000198795:ENST00000361524:exon2:c.A39C:p.K13N;	0.892938596692202	0.766
18	22930873	T	A	18	25350909	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.A38T:p.K13I;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A38T:p.K13I;ENSG00000198795:ENST00000577801:exon2:c.A38T:p.K13I;ENSG00000198795:ENST00000577461:exon1:c.A38T:p.K13I;ENSG00000198795:ENST00000580488:exon2:c.A38T:p.K13I;ENSG00000198795:ENST00000399425:exon2:c.A38T:p.K13I;ENSG00000198795:ENST00000361524:exon2:c.A38T:p.K13I;	0.00266292156415853	0.148
18	22930873	T	C	18	25350909	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.A38G:p.K13R;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A38G:p.K13R;ENSG00000198795:ENST00000577801:exon2:c.A38G:p.K13R;ENSG00000198795:ENST00000577461:exon1:c.A38G:p.K13R;ENSG00000198795:ENST00000580488:exon2:c.A38G:p.K13R;ENSG00000198795:ENST00000399425:exon2:c.A38G:p.K13R;ENSG00000198795:ENST00000361524:exon2:c.A38G:p.K13R;	7.46482952188753E-4	0.022
18	22930873	T	G	18	25350909	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.A38C:p.K13T;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A38C:p.K13T;ENSG00000198795:ENST00000577801:exon2:c.A38C:p.K13T;ENSG00000198795:ENST00000577461:exon1:c.A38C:p.K13T;ENSG00000198795:ENST00000580488:exon2:c.A38C:p.K13T;ENSG00000198795:ENST00000399425:exon2:c.A38C:p.K13T;ENSG00000198795:ENST00000361524:exon2:c.A38C:p.K13T;	1.33172528203852E-4	0.006
18	22930910	T	A	18	25350946	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.A1T:p.M1L;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A1T:p.M1L;ENSG00000198795:ENST00000577801:exon2:c.A1T:p.M1L;ENSG00000198795:ENST00000577461:exon1:c.A1T:p.M1L;ENSG00000198795:ENST00000580488:exon2:c.A1T:p.M1L;ENSG00000198795:ENST00000399425:exon2:c.A1T:p.M1L;ENSG00000198795:ENST00000361524:exon2:c.A1T:p.M1L;	0.00866486200768735	0.118
18	22930910	T	C	18	25350946	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.A1G:p.M1V;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A1G:p.M1V;ENSG00000198795:ENST00000577801:exon2:c.A1G:p.M1V;ENSG00000198795:ENST00000577461:exon1:c.A1G:p.M1V;ENSG00000198795:ENST00000580488:exon2:c.A1G:p.M1V;ENSG00000198795:ENST00000399425:exon2:c.A1G:p.M1V;ENSG00000198795:ENST00000361524:exon2:c.A1G:p.M1V;	0.00635532380864643	0.042
18	22930910	T	G	18	25350946	y	y	exonic	ZNF521	nonsynonymous SNV	ZNF521:NM_015461:exon2:c.A1C:p.M1L;	exonic	ENSG00000198795	nonsynonymous SNV	ENSG00000198795:ENST00000538137:exon2:c.A1C:p.M1L;ENSG00000198795:ENST00000577801:exon2:c.A1C:p.M1L;ENSG00000198795:ENST00000577461:exon1:c.A1C:p.M1L;ENSG00000198795:ENST00000580488:exon2:c.A1C:p.M1L;ENSG00000198795:ENST00000399425:exon2:c.A1C:p.M1L;ENSG00000198795:ENST00000361524:exon2:c.A1C:p.M1L;	0.0184888814167755	0.168
18	22930911	C	A	18	25350947	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.997043934258111	0.974
18	22930911	C	G	18	25350947	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.993600325207847	0.956
18	22930911	C	T	18	25350947	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.98707337736918	0.686
18	22930912	C	A	18	25350948	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999984811883222	0.926
18	22930912	C	G	18	25350948	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999984811883222	0.926
18	22930912	C	T	18	25350948	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999988307841649	0.924
18	22930913	T	A	18	25350949	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999993672935256	0.928
18	22930913	T	C	18	25350949	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999993672935256	0.922
18	22930913	T	G	18	25350949	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999993672935256	0.928
18	22930914	A	C	18	25350950	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.994196878781292	0.802
18	22930914	A	G	18	25350950	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00186029476168832	0.032
18	22930914	A	T	18	25350950	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0592710818198824	0.328
18	22930915	A	C	18	25350951	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0409521596883512	0.208
18	22930915	A	G	18	25350951	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00853102539816748	0.13
18	22930915	A	T	18	25350951	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0402455418433879	0.228
18	22930916	A	C	18	25350952	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.998299201546636	0.928
18	22930916	A	G	18	25350952	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.107978783796563	0.252
18	22930916	A	T	18	25350952	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.997872739125253	0.922
18	22930917	A	C	18	25350953	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.316863874260956	0.626
18	22930917	A	G	18	25350953	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	2.62557903186225E-4	0.018
18	22930917	A	T	18	25350953	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.243733808440782	0.532
18	22930918	G	A	18	25350954	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00102602481883073	0.012
18	22930918	G	C	18	25350954	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0274785036907061	0.146
18	22930918	G	T	18	25350954	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0467078476195265	0.076
18	22930919	C	A	18	25350955	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0103092228042784	0.022
18	22930919	C	G	18	25350955	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0110659239730725	0.032
18	22930919	C	T	18	25350955	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0357214478348204	0.038
18	22930920	A	C	18	25350956	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.978273600506037	0.772
18	22930920	A	G	18	25350956	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00780486767619996	0.174
18	22930920	A	T	18	25350956	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.999927443702737	0.98
18	22930921	A	C	18	25350957	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.976043587185862	0.678
18	22930921	A	G	18	25350957	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.026367791466363	0.236
18	22930921	A	T	18	25350957	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.988241483770421	0.842
18	22930922	A	C	18	25350958	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.996499122911263	0.918
18	22930922	A	G	18	25350958	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.515132761902897	0.4
18	22930922	A	T	18	25350958	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.997193022552353	0.958
18	22930923	C	A	18	25350959	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	8.78698197210636E-5	0.008
18	22930923	C	G	18	25350959	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	1.31893471545873E-4	0.006
18	22930923	C	T	18	25350959	y	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.98003254070695E-4	0.016
18	22930956	A	C	18	25350992	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00522911766011014	0.038
18	22930956	A	G	18	25350992	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00522911766011014	0.038
18	22930956	A	T	18	25350992	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00541346261423158	0.036
18	22930957	A	C	18	25350993	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	6.45601791189925E-4	0.016
18	22930957	A	G	18	25350993	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	6.45601791189925E-4	0.018
18	22930957	A	T	18	25350993	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	8.14218982219582E-4	0.028
18	22930958	C	A	18	25350994	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	1.49718806113016E-4	0.03
18	22930958	C	G	18	25350994	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	1.28296247757576E-4	0.0
18	22930958	C	T	18	25350994	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	1.49718806113016E-4	0.004
18	22930959	T	A	18	25350995	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.00665804939588173	0.104
18	22930959	T	C	18	25350995	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.00665804939588173	0.042
18	22930959	T	G	18	25350995	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.00665804939588173	0.042
18	22930960	A	C	18	25350996	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00208383121166761	0.02
18	22930960	A	G	18	25350996	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00208383121166761	0.018
18	22930960	A	T	18	25350996	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0030806459804901	0.024
18	22930961	T	A	18	25350997	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	1.55497844378835E-4	0.062
18	22930961	T	C	18	25350997	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	8.8547479323169E-5	0.046
18	22930961	T	G	18	25350997	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	8.8547479323169E-5	0.046
18	22930962	A	C	18	25350998	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00211805212305528	0.028
18	22930962	A	G	18	25350998	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00211805212305528	0.018
18	22930962	A	T	18	25350998	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00208383121166761	0.018
18	22930963	C	A	18	25350999	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	4.82961236541207E-4	0.01
18	22930963	C	G	18	25350999	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	4.77798218238944E-4	0.006
18	22930963	C	T	18	25350999	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	8.77536005455013E-4	0.004
18	22930964	T	A	18	25351000	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00304869478513541	0.042
18	22930964	T	C	18	25351000	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00304869478513541	0.026
18	22930964	T	G	18	25351000	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00304869478513541	0.028
18	22930965	T	A	18	25351001	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	5.85051771401645E-4	0.016
18	22930965	T	C	18	25351001	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	5.94674224989576E-4	0.014
18	22930965	T	G	18	25351001	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	5.94674224989576E-4	0.014
18	22930966	C	A	18	25351002	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	1.44549828553928E-4	0.004
18	22930966	C	G	18	25351002	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	8.82939670392646E-5	0.002
18	22930966	C	T	18	25351002	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	1.44549828553928E-4	0.014
18	22930967	C	A	18	25351003	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00296019484787257	0.026
18	22930967	C	G	18	25351003	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00252492007020679	0.03
18	22930967	C	T	18	25351003	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0020757380184811	0.044
18	22930968	T	A	18	25351004	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0030806459804901	0.024
18	22930968	T	C	18	25351004	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00208383121166761	0.02
18	22930968	T	G	18	25351004	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.00208383121166761	0.02
18	22930969	C	A	18	25351005	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	4.41863113010999E-4	0.02
18	22930969	C	G	18	25351005	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	4.41863113010999E-4	0.02
18	22930969	C	T	18	25351005	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	9.15936132158374E-4	0.02
18	22931458	T	A	18	25351494	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.19341284010008E-4	0.02
18	22931458	T	C	18	25351494	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931458	T	G	18	25351494	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931459	T	A	18	25351495	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.19341284010008E-4	0.02
18	22931459	T	C	18	25351495	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931459	T	G	18	25351495	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931460	G	A	18	25351496	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.7279575230299E-4	0.026
18	22931460	G	C	18	25351496	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.37801603760305E-4	0.026
18	22931460	G	T	18	25351496	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.37801603760305E-4	0.026
18	22931461	T	A	18	25351497	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.19341284010008E-4	0.022
18	22931461	T	C	18	25351497	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931461	T	G	18	25351497	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931462	T	A	18	25351498	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931462	T	C	18	25351498	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931462	T	G	18	25351498	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	4.84907426106006E-4	0.016
18	22931463	T	A	18	25351499	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.83490353963229E-5	0.006
18	22931463	T	C	18	25351499	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.83490353963229E-5	0.006
18	22931463	T	G	18	25351499	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.83490353963229E-5	0.006
18	22931464	A	C	18	25351500	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	7.19341284010008E-4	0.032
18	22931464	A	G	18	25351500	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	6.21283372398966E-4	0.016
18	22931464	A	T	18	25351500	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	7.27112482947314E-4	0.022
18	22931465	C	A	18	25351501	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	6.18559519731371E-4	0.024
18	22931465	C	G	18	25351501	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	6.18559519731371E-4	0.026
18	22931465	C	T	18	25351501	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	9.1754964363358E-4	0.026
18	22931466	A	C	18	25351502	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.08739841361144E-4	0.012
18	22931466	A	G	18	25351502	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.08739841361144E-4	0.012
18	22931466	A	T	18	25351502	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	1.4076558401562E-4	0.012
18	22931467	A	C	18	25351503	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.08739841361144E-4	0.012
18	22931467	A	G	18	25351503	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.08739841361144E-4	0.012
18	22931467	A	T	18	25351503	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.08739841361144E-4	0.01
18	22931468	A	C	18	25351504	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.08739841361144E-4	0.014
18	22931468	A	G	18	25351504	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.08739841361144E-4	0.014
18	22931468	A	T	18	25351504	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	3.08739841361144E-4	0.012
18	22931685	C	A	18	25351721	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.27249350127972E-5	0.024
18	22931685	C	G	18	25351721	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.27249350127972E-5	0.018
18	22931685	C	T	18	25351721	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.27249350127972E-5	0.042
18	22931686	A	C	18	25351722	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.80448625537222E-5	0.008
18	22931686	A	G	18	25351722	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.80448625537222E-5	0.008
18	22931686	A	T	18	25351722	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.80448625537222E-5	0.008
18	22931687	A	C	18	25351723	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.17548064273224E-5	0.008
18	22931687	A	G	18	25351723	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.17548064273224E-5	0.008
18	22931687	A	T	18	25351723	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	3.17548064273224E-5	0.008
18	22931688	A	C	18	25351724	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.80617167377338E-5	0.038
18	22931688	A	G	18	25351724	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.80617167377338E-5	0.038
18	22931688	A	T	18	25351724	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.80617167377338E-5	0.038
18	22931689	G	A	18	25351725	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.27275750303652E-5	0.0
18	22931689	G	C	18	25351725	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.75284659263542E-5	0.03
18	22931689	G	T	18	25351725	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.75284659263542E-5	0.004
18	22931690	C	A	18	25351726	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.12096536907536E-5	0.0
18	22931690	C	G	18	25351726	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.02200901398846E-5	0.0
18	22931690	C	T	18	25351726	n	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	2.12096536907536E-5	0.0
18	22931691	A	C	18	25351727	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	5.37812133402739E-5	0.02
18	22931691	A	G	18	25351727	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	5.37812133402739E-5	0.02
18	22931691	A	T	18	25351727	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	2.96532199348666E-5	0.016
18	22931692	C	A	18	25351728	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	1.37996697393411E-5	0.0
18	22931692	C	G	18	25351728	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	1.57473085243988E-5	0.034
18	22931692	C	T	18	25351728	n	y	intronic	ZNF521	.	.	splicing	ENSG00000198795	.	.	1.37996697393411E-5	0.0
18	22931693	C	A	18	25351729	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	6.82973405549831E-4	0.032
18	22931693	C	G	18	25351729	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	6.82973405549831E-4	0.032
18	22931693	C	T	18	25351729	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	6.82973405549831E-4	0.032
18	22931694	C	A	18	25351730	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	6.82973405549831E-4	0.032
18	22931694	C	G	18	25351730	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	6.82973405549831E-4	0.032
18	22931694	C	T	18	25351730	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	6.82973405549831E-4	0.032
18	22931695	G	A	18	25351731	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	1.24310614317174E-5	0.002
18	22931695	G	C	18	25351731	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	1.24310614317174E-5	0.0
18	22931695	G	T	18	25351731	n	y	intronic	ZNF521	.	.	UTR5	ENSG00000198795	.	.	1.24310614317174E-5	0.0
18	22931961	T	A	18	25351997	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00435621381310636	0.018
18	22931961	T	C	18	25351997	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00593248112033153	0.056
18	22931961	T	G	18	25351997	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00770906943896519	0.016
18	22931962	C	A	18	25351998	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.79656918139001E-4	0.004
18	22931962	C	G	18	25351998	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0013680450976895	0.006
18	22931962	C	T	18	25351998	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00173204980010904	0.0
18	22931963	A	C	18	25351999	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.89761745042026	0.658
18	22931963	A	G	18	25351999	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.970399630732008	0.734
18	22931963	A	T	18	25351999	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.882569691689216	0.668
18	22931964	C	A	18	25352000	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.99989789341984	0.952
18	22931964	C	G	18	25352000	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999991809563788	0.984
18	22931964	C	T	18	25352000	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.999947795560175	0.992
18	22931965	A	C	18	25352001	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	7.74696073941155E-4	0.012
18	22931965	A	G	18	25352001	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0112083907859635	0.164
18	22931965	A	T	18	25352001	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	5.17881474238502E-4	0.066
18	22931966	A	C	18	25352002	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	6.44982042744396E-4	0.056
18	22931966	A	G	18	25352002	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.0148632246033921	0.114
18	22931966	A	T	18	25352002	y	y	intronic	ZNF521	.	.	intronic	ENSG00000198795	.	.	0.00205489378668442	0.094
18	22931967	A	C	18	25352003	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999986610346408	0.944
18	22931967	A	G	18	25352003	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.995862150512978	0.566
18	22931967	A	T	18	25352003	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999986610346408	0.944
18	22931968	C	A	18	25352004	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999993672935256	0.938
18	22931968	C	G	18	25352004	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999991781128047	0.94
18	22931968	C	T	18	25352004	y	y	splicing	ZNF521	.	.	splicing	ENSG00000198795	.	.	0.999993672935256	0.94
18	22931969	C	A	18	25352005	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.999973743011701	0.998
18	22931969	C	G	18	25352005	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.999996113244226	1.0
18	22931969	C	T	18	25352005	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.999971845560029	0.998
18	22931970	T	A	18	25352006	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.999458439631167	0.974
18	22931970	T	C	18	25352006	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.998037114420089	0.938
18	22931970	T	G	18	25352006	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.998500200329853	0.95
18	22931971	G	A	18	25352007	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.990262161152815	0.894
18	22931971	G	C	18	25352007	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0128227103299867	0.132
18	22931971	G	T	18	25352007	y	y	UTR5	ZNF521	.	.	UTR5	ENSG00000198795	.	.	0.0158568992647655	0.158
18	23598343	C	A	18	26018379	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon11:c.G1232T:p.G411V;SS18:NM_005637:exon10:c.G1139T:p.G380V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon11:c.G983T:p.G328V;ENSG00000141380:ENST00000542743:exon11:c.G983T:p.G328V;ENSG00000141380:ENST00000539849:exon10:c.G986T:p.G329V;ENSG00000141380:ENST00000415083:exon11:c.G1232T:p.G411V;ENSG00000141380:ENST00000269137:exon10:c.G1139T:p.G380V;ENSG00000141380:ENST00000542420:exon11:c.G1163T:p.G388V;	0.159509588264195	0.29
18	23598343	C	G	18	26018379	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon11:c.G1232C:p.G411A;SS18:NM_005637:exon10:c.G1139C:p.G380A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon11:c.G983C:p.G328A;ENSG00000141380:ENST00000542743:exon11:c.G983C:p.G328A;ENSG00000141380:ENST00000539849:exon10:c.G986C:p.G329A;ENSG00000141380:ENST00000415083:exon11:c.G1232C:p.G411A;ENSG00000141380:ENST00000269137:exon10:c.G1139C:p.G380A;ENSG00000141380:ENST00000542420:exon11:c.G1163C:p.G388A;	0.0482407423744814	0.214
18	23598343	C	T	18	26018379	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon11:c.G1232A:p.G411E;SS18:NM_005637:exon10:c.G1139A:p.G380E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon11:c.G983A:p.G328E;ENSG00000141380:ENST00000542743:exon11:c.G983A:p.G328E;ENSG00000141380:ENST00000539849:exon10:c.G986A:p.G329E;ENSG00000141380:ENST00000415083:exon11:c.G1232A:p.G411E;ENSG00000141380:ENST00000269137:exon10:c.G1139A:p.G380E;ENSG00000141380:ENST00000542420:exon11:c.G1163A:p.G388E;	0.44132504531987	0.492
18	23598344	C	A	18	26018380	y	y	exonic	SS18	stopgain SNV	SS18:NM_001007559:exon11:c.G1231T:p.G411X;SS18:NM_005637:exon10:c.G1138T:p.G380X;	exonic	ENSG00000141380	stopgain SNV	ENSG00000141380:ENST00000545952:exon11:c.G982T:p.G328X;ENSG00000141380:ENST00000542743:exon11:c.G982T:p.G328X;ENSG00000141380:ENST00000539849:exon10:c.G985T:p.G329X;ENSG00000141380:ENST00000415083:exon11:c.G1231T:p.G411X;ENSG00000141380:ENST00000269137:exon10:c.G1138T:p.G380X;ENSG00000141380:ENST00000542420:exon11:c.G1162T:p.G388X;	0.99989044406841	0.99
18	23598344	C	G	18	26018380	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon11:c.G1231C:p.G411R;SS18:NM_005637:exon10:c.G1138C:p.G380R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon11:c.G982C:p.G328R;ENSG00000141380:ENST00000542743:exon11:c.G982C:p.G328R;ENSG00000141380:ENST00000539849:exon10:c.G985C:p.G329R;ENSG00000141380:ENST00000415083:exon11:c.G1231C:p.G411R;ENSG00000141380:ENST00000269137:exon10:c.G1138C:p.G380R;ENSG00000141380:ENST00000542420:exon11:c.G1162C:p.G388R;	0.998464900117102	0.94
18	23598344	C	T	18	26018380	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon11:c.G1231A:p.G411R;SS18:NM_005637:exon10:c.G1138A:p.G380R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon11:c.G982A:p.G328R;ENSG00000141380:ENST00000542743:exon11:c.G982A:p.G328R;ENSG00000141380:ENST00000539849:exon10:c.G985A:p.G329R;ENSG00000141380:ENST00000415083:exon11:c.G1231A:p.G411R;ENSG00000141380:ENST00000269137:exon10:c.G1138A:p.G380R;ENSG00000141380:ENST00000542420:exon11:c.G1162A:p.G388R;	0.997107333446389	0.846
18	23598345	C	A	18	26018381	y	y	splicing	SS18(NM_005637:exon11:c.1138-1G>T;NM_001007559:exon12:c.1231-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon12:c.1231-1G>T;ENST00000542420:exon12:c.1162-1G>T;ENST00000542743:exon12:c.982-1G>T;ENST00000579640:exon12:c.1304-1G>T;ENST00000539849:exon11:c.985-1G>T;ENST00000269138:exon11:c.1146-1G>T;ENST00000269137:exon11:c.1138-1G>T;ENST00000545952:exon12:c.982-1G>T;ENST00000585121:exon12:c.1257-1G>T)	.	.	0.999981760802075	0.94
18	23598345	C	G	18	26018381	y	y	splicing	SS18(NM_005637:exon11:c.1138-1G>C;NM_001007559:exon12:c.1231-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon12:c.1231-1G>C;ENST00000542420:exon12:c.1162-1G>C;ENST00000542743:exon12:c.982-1G>C;ENST00000579640:exon12:c.1304-1G>C;ENST00000539849:exon11:c.985-1G>C;ENST00000269138:exon11:c.1146-1G>C;ENST00000269137:exon11:c.1138-1G>C;ENST00000545952:exon12:c.982-1G>C;ENST00000585121:exon12:c.1257-1G>C)	.	.	0.999981760802075	0.94
18	23598345	C	T	18	26018381	y	y	splicing	SS18(NM_005637:exon11:c.1138-1G>A;NM_001007559:exon12:c.1231-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon12:c.1231-1G>A;ENST00000542420:exon12:c.1162-1G>A;ENST00000542743:exon12:c.982-1G>A;ENST00000579640:exon12:c.1304-1G>A;ENST00000539849:exon11:c.985-1G>A;ENST00000269138:exon11:c.1146-1G>A;ENST00000269137:exon11:c.1138-1G>A;ENST00000545952:exon12:c.982-1G>A;ENST00000585121:exon12:c.1257-1G>A)	.	.	0.999981760802075	0.94
18	23598346	T	A	18	26018382	y	y	splicing	SS18(NM_005637:exon11:c.1138-2A>T;NM_001007559:exon12:c.1231-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon12:c.1231-2A>T;ENST00000542420:exon12:c.1162-2A>T;ENST00000542743:exon12:c.982-2A>T;ENST00000579640:exon12:c.1304-2A>T;ENST00000539849:exon11:c.985-2A>T;ENST00000269138:exon11:c.1146-2A>T;ENST00000269137:exon11:c.1138-2A>T;ENST00000545952:exon12:c.982-2A>T;ENST00000585121:exon12:c.1257-2A>T)	.	.	0.999989917668626	0.926
18	23598346	T	C	18	26018382	y	y	splicing	SS18(NM_005637:exon11:c.1138-2A>G;NM_001007559:exon12:c.1231-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon12:c.1231-2A>G;ENST00000542420:exon12:c.1162-2A>G;ENST00000542743:exon12:c.982-2A>G;ENST00000579640:exon12:c.1304-2A>G;ENST00000539849:exon11:c.985-2A>G;ENST00000269138:exon11:c.1146-2A>G;ENST00000269137:exon11:c.1138-2A>G;ENST00000545952:exon12:c.982-2A>G;ENST00000585121:exon12:c.1257-2A>G)	.	.	0.999986903042585	0.928
18	23598346	T	G	18	26018382	y	y	splicing	SS18(NM_005637:exon11:c.1138-2A>C;NM_001007559:exon12:c.1231-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon12:c.1231-2A>C;ENST00000542420:exon12:c.1162-2A>C;ENST00000542743:exon12:c.982-2A>C;ENST00000579640:exon12:c.1304-2A>C;ENST00000539849:exon11:c.985-2A>C;ENST00000269138:exon11:c.1146-2A>C;ENST00000269137:exon11:c.1138-2A>C;ENST00000545952:exon12:c.982-2A>C;ENST00000585121:exon12:c.1257-2A>C)	.	.	0.999986903042585	0.928
18	23598347	A	C	18	26018383	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.947239735744621	0.66
18	23598347	A	G	18	26018383	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.78878317657405E-5	0.0
18	23598347	A	T	18	26018383	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.56752307737392E-4	0.158
18	23598348	A	C	18	26018384	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00447060167967371	0.08
18	23598348	A	G	18	26018384	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.28322597248723E-4	0.026
18	23598348	A	T	18	26018384	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0048939731015343	0.084
18	23598349	A	C	18	26018385	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.976538617838729	0.576
18	23598349	A	G	18	26018385	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00467349106910527	0.092
18	23598349	A	T	18	26018385	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.82439167932359	0.51
18	23598350	A	C	18	26018386	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.183416037088676	0.428
18	23598350	A	G	18	26018386	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.87692217271962E-4	0.006
18	23598350	A	T	18	26018386	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0622681358459974	0.352
18	23598351	G	A	18	26018387	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.96858947005035E-5	0.0
18	23598351	G	C	18	26018387	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.59941997888613E-4	0.12
18	23598351	G	T	18	26018387	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00141073104275081	0.088
18	23598352	A	C	18	26018388	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999907092915378	0.978
18	23598352	A	G	18	26018388	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00110180896513642	0.03
18	23598352	A	T	18	26018388	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.33115669505484	0.432
18	23598353	T	A	18	26018389	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.83490306740609E-5	0.02
18	23598353	T	C	18	26018389	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.88513976156117E-5	0.002
18	23598353	T	G	18	26018389	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.33354769551067E-5	0.0
18	23598354	A	C	18	26018390	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99612359555965	0.842
18	23598354	A	G	18	26018390	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.032500141066631	0.378
18	23598354	A	T	18	26018390	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99864825400347	0.88
18	23598355	A	C	18	26018391	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.989300044903153	0.734
18	23598355	A	G	18	26018391	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0971554745313552	0.252
18	23598355	A	T	18	26018391	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.993709223191467	0.816
18	23598356	A	C	18	26018392	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999935669844472	0.924
18	23598356	A	G	18	26018392	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0424779578965297	0.296
18	23598356	A	T	18	26018392	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.994140800821131	0.79
18	23612355	C	A	18	26032391	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.83421527981416E-5	0.002
18	23612355	C	G	18	26032391	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.83421527981416E-5	0.002
18	23612355	C	T	18	26032391	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.15020457490687E-5	0.002
18	23612356	T	A	18	26032392	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.45856512979458E-5	0.002
18	23612356	T	C	18	26032392	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.10210325536339E-5	0.002
18	23612356	T	G	18	26032392	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.32946102950163E-5	0.0
18	23612357	A	C	18	26032393	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.38483565167296E-4	0.074
18	23612357	A	G	18	26032393	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0167933686497169	0.078
18	23612357	A	T	18	26032393	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00565166905772393	0.096
18	23612358	C	A	18	26032394	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.417216756634701	0.528
18	23612358	C	G	18	26032394	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.146531397338876	0.494
18	23612358	C	T	18	26032394	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.423631483999296	0.52
18	23612359	T	A	18	26032395	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.202480061283717	0.274
18	23612359	T	C	18	26032395	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0777426195090351	0.34
18	23612359	T	G	18	26032395	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.134904336768486	0.29
18	23612360	T	A	18	26032396	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.384111555069184	0.432
18	23612360	T	C	18	26032396	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.60243366848934E-4	0.058
18	23612360	T	G	18	26032396	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.648268015976372	0.402
18	23612361	A	C	18	26032397	y	y	splicing	SS18(NM_005637:exon10:c.1137+2T>G;NM_001007559:exon11:c.1230+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1230+2T>G;ENST00000542420:exon11:c.1161+2T>G;ENST00000542743:exon11:c.981+2T>G;ENST00000579640:exon11:c.1303+2T>G;ENST00000539849:exon10:c.984+2T>G;ENST00000269138:exon10:c.1145+2T>G;ENST00000269137:exon10:c.1137+2T>G;ENST00000545952:exon11:c.981+2T>G;ENST00000585121:exon11:c.1256+2T>G)	.	.	0.999993519952936	0.928
18	23612361	A	G	18	26032397	y	y	splicing	SS18(NM_005637:exon10:c.1137+2T>C;NM_001007559:exon11:c.1230+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1230+2T>C;ENST00000542420:exon11:c.1161+2T>C;ENST00000542743:exon11:c.981+2T>C;ENST00000579640:exon11:c.1303+2T>C;ENST00000539849:exon10:c.984+2T>C;ENST00000269138:exon10:c.1145+2T>C;ENST00000269137:exon10:c.1137+2T>C;ENST00000545952:exon11:c.981+2T>C;ENST00000585121:exon11:c.1256+2T>C)	.	.	0.988502993399679	0.588
18	23612361	A	T	18	26032397	y	y	splicing	SS18(NM_005637:exon10:c.1137+2T>A;NM_001007559:exon11:c.1230+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1230+2T>A;ENST00000542420:exon11:c.1161+2T>A;ENST00000542743:exon11:c.981+2T>A;ENST00000579640:exon11:c.1303+2T>A;ENST00000539849:exon10:c.984+2T>A;ENST00000269138:exon10:c.1145+2T>A;ENST00000269137:exon10:c.1137+2T>A;ENST00000545952:exon11:c.981+2T>A;ENST00000585121:exon11:c.1256+2T>A)	.	.	0.999993519952936	0.928
18	23612362	C	A	18	26032398	y	y	splicing	SS18(NM_005637:exon10:c.1137+1G>T;NM_001007559:exon11:c.1230+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1230+1G>T;ENST00000542420:exon11:c.1161+1G>T;ENST00000542743:exon11:c.981+1G>T;ENST00000579640:exon11:c.1303+1G>T;ENST00000539849:exon10:c.984+1G>T;ENST00000269138:exon10:c.1145+1G>T;ENST00000269137:exon10:c.1137+1G>T;ENST00000545952:exon11:c.981+1G>T;ENST00000585121:exon11:c.1256+1G>T)	.	.	0.999988247793601	0.936
18	23612362	C	G	18	26032398	y	y	splicing	SS18(NM_005637:exon10:c.1137+1G>C;NM_001007559:exon11:c.1230+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1230+1G>C;ENST00000542420:exon11:c.1161+1G>C;ENST00000542743:exon11:c.981+1G>C;ENST00000579640:exon11:c.1303+1G>C;ENST00000539849:exon10:c.984+1G>C;ENST00000269138:exon10:c.1145+1G>C;ENST00000269137:exon10:c.1137+1G>C;ENST00000545952:exon11:c.981+1G>C;ENST00000585121:exon11:c.1256+1G>C)	.	.	0.999988247793601	0.936
18	23612362	C	T	18	26032398	y	y	splicing	SS18(NM_005637:exon10:c.1137+1G>A;NM_001007559:exon11:c.1230+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1230+1G>A;ENST00000542420:exon11:c.1161+1G>A;ENST00000542743:exon11:c.981+1G>A;ENST00000579640:exon11:c.1303+1G>A;ENST00000539849:exon10:c.984+1G>A;ENST00000269138:exon10:c.1145+1G>A;ENST00000269137:exon10:c.1137+1G>A;ENST00000545952:exon11:c.981+1G>A;ENST00000585121:exon11:c.1256+1G>A)	.	.	0.999988247793601	0.936
18	23612363	C	A	18	26032399	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.G1230T:p.Q410H;SS18:NM_005637:exon9:c.G1137T:p.Q379H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.G981T:p.Q327H;ENSG00000141380:ENST00000542743:exon10:c.G981T:p.Q327H;ENSG00000141380:ENST00000539849:exon9:c.G984T:p.Q328H;ENSG00000141380:ENST00000415083:exon10:c.G1230T:p.Q410H;ENSG00000141380:ENST00000269137:exon9:c.G1137T:p.Q379H;ENSG00000141380:ENST00000542420:exon10:c.G1161T:p.Q387H;	0.935199384916626	0.728
18	23612363	C	G	18	26032399	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.G1230C:p.Q410H;SS18:NM_005637:exon9:c.G1137C:p.Q379H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.G981C:p.Q327H;ENSG00000141380:ENST00000542743:exon10:c.G981C:p.Q327H;ENSG00000141380:ENST00000539849:exon9:c.G984C:p.Q328H;ENSG00000141380:ENST00000415083:exon10:c.G1230C:p.Q410H;ENSG00000141380:ENST00000269137:exon9:c.G1137C:p.Q379H;ENSG00000141380:ENST00000542420:exon10:c.G1161C:p.Q387H;	0.934476957050591	0.762
18	23612363	C	T	18	26032399	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon10:c.G1230A:p.Q410Q;SS18:NM_005637:exon9:c.G1137A:p.Q379Q;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.G981A:p.Q327Q;ENSG00000141380:ENST00000542743:exon10:c.G981A:p.Q327Q;ENSG00000141380:ENST00000539849:exon9:c.G984A:p.Q328Q;ENSG00000141380:ENST00000415083:exon10:c.G1230A:p.Q410Q;ENSG00000141380:ENST00000269137:exon9:c.G1137A:p.Q379Q;ENSG00000141380:ENST00000542420:exon10:c.G1161A:p.Q387Q;	0.394588477606312	0.534
18	23612364	T	A	18	26032400	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.A1229T:p.Q410L;SS18:NM_005637:exon9:c.A1136T:p.Q379L;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.A980T:p.Q327L;ENSG00000141380:ENST00000542743:exon10:c.A980T:p.Q327L;ENSG00000141380:ENST00000539849:exon9:c.A983T:p.Q328L;ENSG00000141380:ENST00000415083:exon10:c.A1229T:p.Q410L;ENSG00000141380:ENST00000269137:exon9:c.A1136T:p.Q379L;ENSG00000141380:ENST00000542420:exon10:c.A1160T:p.Q387L;	0.993398122733273	0.632
18	23612364	T	C	18	26032400	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.A1229G:p.Q410R;SS18:NM_005637:exon9:c.A1136G:p.Q379R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.A980G:p.Q327R;ENSG00000141380:ENST00000542743:exon10:c.A980G:p.Q327R;ENSG00000141380:ENST00000539849:exon9:c.A983G:p.Q328R;ENSG00000141380:ENST00000415083:exon10:c.A1229G:p.Q410R;ENSG00000141380:ENST00000269137:exon9:c.A1136G:p.Q379R;ENSG00000141380:ENST00000542420:exon10:c.A1160G:p.Q387R;	0.993420621332294	0.722
18	23612364	T	G	18	26032400	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.A1229C:p.Q410P;SS18:NM_005637:exon9:c.A1136C:p.Q379P;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.A980C:p.Q327P;ENSG00000141380:ENST00000542743:exon10:c.A980C:p.Q327P;ENSG00000141380:ENST00000539849:exon9:c.A983C:p.Q328P;ENSG00000141380:ENST00000415083:exon10:c.A1229C:p.Q410P;ENSG00000141380:ENST00000269137:exon9:c.A1136C:p.Q379P;ENSG00000141380:ENST00000542420:exon10:c.A1160C:p.Q387P;	0.993398122733273	0.706
18	23612365	G	A	18	26032401	y	y	exonic	SS18	stopgain SNV	SS18:NM_001007559:exon10:c.C1228T:p.Q410X;SS18:NM_005637:exon9:c.C1135T:p.Q379X;	exonic	ENSG00000141380	stopgain SNV	ENSG00000141380:ENST00000545952:exon10:c.C979T:p.Q327X;ENSG00000141380:ENST00000542743:exon10:c.C979T:p.Q327X;ENSG00000141380:ENST00000539849:exon9:c.C982T:p.Q328X;ENSG00000141380:ENST00000415083:exon10:c.C1228T:p.Q410X;ENSG00000141380:ENST00000269137:exon9:c.C1135T:p.Q379X;ENSG00000141380:ENST00000542420:exon10:c.C1159T:p.Q387X;	0.994809323966237	0.628
18	23612365	G	C	18	26032401	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.C1228G:p.Q410E;SS18:NM_005637:exon9:c.C1135G:p.Q379E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.C979G:p.Q327E;ENSG00000141380:ENST00000542743:exon10:c.C979G:p.Q327E;ENSG00000141380:ENST00000539849:exon9:c.C982G:p.Q328E;ENSG00000141380:ENST00000415083:exon10:c.C1228G:p.Q410E;ENSG00000141380:ENST00000269137:exon9:c.C1135G:p.Q379E;ENSG00000141380:ENST00000542420:exon10:c.C1159G:p.Q387E;	0.785371595971446	0.516
18	23612365	G	T	18	26032401	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.C1228A:p.Q410K;SS18:NM_005637:exon9:c.C1135A:p.Q379K;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.C979A:p.Q327K;ENSG00000141380:ENST00000542743:exon10:c.C979A:p.Q327K;ENSG00000141380:ENST00000539849:exon9:c.C982A:p.Q328K;ENSG00000141380:ENST00000415083:exon10:c.C1228A:p.Q410K;ENSG00000141380:ENST00000269137:exon9:c.C1135A:p.Q379K;ENSG00000141380:ENST00000542420:exon10:c.C1159A:p.Q387K;	0.895381571783141	0.636
18	23612495	A	C	18	26032531	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon10:c.T1098G:p.G366G;SS18:NM_005637:exon9:c.T1005G:p.G335G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.T849G:p.G283G;ENSG00000141380:ENST00000542743:exon10:c.T849G:p.G283G;ENSG00000141380:ENST00000539849:exon9:c.T852G:p.G284G;ENSG00000141380:ENST00000415083:exon10:c.T1098G:p.G366G;ENSG00000141380:ENST00000269137:exon9:c.T1005G:p.G335G;ENSG00000141380:ENST00000542420:exon10:c.T1029G:p.G343G;	0.0118497903215152	0.22
18	23612495	A	G	18	26032531	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon10:c.T1098C:p.G366G;SS18:NM_005637:exon9:c.T1005C:p.G335G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.T849C:p.G283G;ENSG00000141380:ENST00000542743:exon10:c.T849C:p.G283G;ENSG00000141380:ENST00000539849:exon9:c.T852C:p.G284G;ENSG00000141380:ENST00000415083:exon10:c.T1098C:p.G366G;ENSG00000141380:ENST00000269137:exon9:c.T1005C:p.G335G;ENSG00000141380:ENST00000542420:exon10:c.T1029C:p.G343G;	0.0238512147751713	0.238
18	23612495	A	T	18	26032531	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon10:c.T1098A:p.G366G;SS18:NM_005637:exon9:c.T1005A:p.G335G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.T849A:p.G283G;ENSG00000141380:ENST00000542743:exon10:c.T849A:p.G283G;ENSG00000141380:ENST00000539849:exon9:c.T852A:p.G284G;ENSG00000141380:ENST00000415083:exon10:c.T1098A:p.G366G;ENSG00000141380:ENST00000269137:exon9:c.T1005A:p.G335G;ENSG00000141380:ENST00000542420:exon10:c.T1029A:p.G343G;	0.04299164669237	0.216
18	23612496	C	A	18	26032532	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.G1097T:p.G366V;SS18:NM_005637:exon9:c.G1004T:p.G335V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.G848T:p.G283V;ENSG00000141380:ENST00000542743:exon10:c.G848T:p.G283V;ENSG00000141380:ENST00000539849:exon9:c.G851T:p.G284V;ENSG00000141380:ENST00000415083:exon10:c.G1097T:p.G366V;ENSG00000141380:ENST00000269137:exon9:c.G1004T:p.G335V;ENSG00000141380:ENST00000542420:exon10:c.G1028T:p.G343V;	0.920875079318148	0.854
18	23612496	C	G	18	26032532	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.G1097C:p.G366A;SS18:NM_005637:exon9:c.G1004C:p.G335A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.G848C:p.G283A;ENSG00000141380:ENST00000542743:exon10:c.G848C:p.G283A;ENSG00000141380:ENST00000539849:exon9:c.G851C:p.G284A;ENSG00000141380:ENST00000415083:exon10:c.G1097C:p.G366A;ENSG00000141380:ENST00000269137:exon9:c.G1004C:p.G335A;ENSG00000141380:ENST00000542420:exon10:c.G1028C:p.G343A;	0.888298509993024	0.832
18	23612496	C	T	18	26032532	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon10:c.G1097A:p.G366D;SS18:NM_005637:exon9:c.G1004A:p.G335D;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon10:c.G848A:p.G283D;ENSG00000141380:ENST00000542743:exon10:c.G848A:p.G283D;ENSG00000141380:ENST00000539849:exon9:c.G851A:p.G284D;ENSG00000141380:ENST00000415083:exon10:c.G1097A:p.G366D;ENSG00000141380:ENST00000269137:exon9:c.G1004A:p.G335D;ENSG00000141380:ENST00000542420:exon10:c.G1028A:p.G343D;	0.373065056818303	0.33
18	23612497	C	A	18	26032533	y	y	splicing	SS18(NM_005637:exon10:c.1004-1G>T;NM_001007559:exon11:c.1097-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1097-1G>T;ENST00000542420:exon11:c.1028-1G>T;ENST00000542743:exon11:c.848-1G>T;ENST00000579640:exon11:c.1170-1G>T;ENST00000539849:exon10:c.851-1G>T;ENST00000269138:exon10:c.1012-1G>T;ENST00000269137:exon10:c.1004-1G>T;ENST00000545952:exon11:c.848-1G>T;ENST00000585121:exon11:c.1123-1G>T)	.	.	0.999978952611685	0.932
18	23612497	C	G	18	26032533	y	y	splicing	SS18(NM_005637:exon10:c.1004-1G>C;NM_001007559:exon11:c.1097-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1097-1G>C;ENST00000542420:exon11:c.1028-1G>C;ENST00000542743:exon11:c.848-1G>C;ENST00000579640:exon11:c.1170-1G>C;ENST00000539849:exon10:c.851-1G>C;ENST00000269138:exon10:c.1012-1G>C;ENST00000269137:exon10:c.1004-1G>C;ENST00000545952:exon11:c.848-1G>C;ENST00000585121:exon11:c.1123-1G>C)	.	.	0.999978952611685	0.932
18	23612497	C	T	18	26032533	y	y	splicing	SS18(NM_005637:exon10:c.1004-1G>A;NM_001007559:exon11:c.1097-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1097-1G>A;ENST00000542420:exon11:c.1028-1G>A;ENST00000542743:exon11:c.848-1G>A;ENST00000579640:exon11:c.1170-1G>A;ENST00000539849:exon10:c.851-1G>A;ENST00000269138:exon10:c.1012-1G>A;ENST00000269137:exon10:c.1004-1G>A;ENST00000545952:exon11:c.848-1G>A;ENST00000585121:exon11:c.1123-1G>A)	.	.	0.999988247793601	0.93
18	23612498	T	A	18	26032534	y	y	splicing	SS18(NM_005637:exon10:c.1004-2A>T;NM_001007559:exon11:c.1097-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1097-2A>T;ENST00000542420:exon11:c.1028-2A>T;ENST00000542743:exon11:c.848-2A>T;ENST00000579640:exon11:c.1170-2A>T;ENST00000539849:exon10:c.851-2A>T;ENST00000269138:exon10:c.1012-2A>T;ENST00000269137:exon10:c.1004-2A>T;ENST00000545952:exon11:c.848-2A>T;ENST00000585121:exon11:c.1123-2A>T)	.	.	0.999988390207502	0.93
18	23612498	T	C	18	26032534	y	y	splicing	SS18(NM_005637:exon10:c.1004-2A>G;NM_001007559:exon11:c.1097-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1097-2A>G;ENST00000542420:exon11:c.1028-2A>G;ENST00000542743:exon11:c.848-2A>G;ENST00000579640:exon11:c.1170-2A>G;ENST00000539849:exon10:c.851-2A>G;ENST00000269138:exon10:c.1012-2A>G;ENST00000269137:exon10:c.1004-2A>G;ENST00000545952:exon11:c.848-2A>G;ENST00000585121:exon11:c.1123-2A>G)	.	.	0.999990611969007	0.896
18	23612498	T	G	18	26032534	y	y	splicing	SS18(NM_005637:exon10:c.1004-2A>C;NM_001007559:exon11:c.1097-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon11:c.1097-2A>C;ENST00000542420:exon11:c.1028-2A>C;ENST00000542743:exon11:c.848-2A>C;ENST00000579640:exon11:c.1170-2A>C;ENST00000539849:exon10:c.851-2A>C;ENST00000269138:exon10:c.1012-2A>C;ENST00000269137:exon10:c.1004-2A>C;ENST00000545952:exon11:c.848-2A>C;ENST00000585121:exon11:c.1123-2A>C)	.	.	0.999990611969007	0.896
18	23612499	G	A	18	26032535	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.81880309240155E-4	0.012
18	23612499	G	C	18	26032535	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999508355991901	0.94
18	23612499	G	T	18	26032535	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.17097348949197	0.428
18	23612500	A	C	18	26032536	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.0881729636066E-5	0.002
18	23612500	A	G	18	26032536	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.2030438136395E-5	0.002
18	23612500	A	T	18	26032536	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.83411291045553E-5	0.0
18	23612501	A	C	18	26032537	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.91802630958523	0.514
18	23612501	A	G	18	26032537	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0408710538400239	0.202
18	23612501	A	T	18	26032537	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.857590117967027	0.474
18	23612502	A	C	18	26032538	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.614539851524739	0.462
18	23612502	A	G	18	26032538	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.01870187949051E-4	0.012
18	23612502	A	T	18	26032538	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.19572032070488	0.376
18	23612503	A	C	18	26032539	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999957738939528	0.972
18	23612503	A	G	18	26032539	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.25272556816483E-4	0.032
18	23612503	A	T	18	26032539	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.342044925073556	0.276
18	23612504	T	A	18	26032540	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.13208161240138E-5	0.002
18	23612504	T	C	18	26032540	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.16652729259319E-5	0.002
18	23612504	T	G	18	26032540	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.13208161240138E-5	0.004
18	23612505	A	C	18	26032541	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.137394383188357	0.454
18	23612505	A	G	18	26032541	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.61542082513498E-4	0.08
18	23612505	A	T	18	26032541	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.203342902736079	0.442
18	23612506	A	C	18	26032542	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999961422320153	0.958
18	23612506	A	G	18	26032542	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.65020422688967E-4	0.056
18	23612506	A	T	18	26032542	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.252663908702576	0.472
18	23612507	T	A	18	26032543	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.10544368606078E-5	0.02
18	23612507	T	C	18	26032543	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.30483809892E-5	0.0
18	23612507	T	G	18	26032543	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.0291873933743E-5	0.0
18	23612508	G	A	18	26032544	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.6822908548668E-5	0.0
18	23612508	G	C	18	26032544	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.960459254340424	0.904
18	23612508	G	T	18	26032544	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.45369666448371E-4	0.018
18	23614961	A	C	18	26034997	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.67270525357075E-5	0.002
18	23614961	A	G	18	26034997	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.98429451896392E-5	0.002
18	23614961	A	T	18	26034997	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.99025567595454E-5	0.0
18	23614962	G	A	18	26034998	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.20901808609834E-4	0.014
18	23614962	G	C	18	26034998	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.36403501330792E-5	0.014
18	23614962	G	T	18	26034998	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.32097829278925E-5	0.0
18	23614963	C	A	18	26034999	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.10042643817238E-5	0.05
18	23614963	C	G	18	26034999	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.67731194300152E-5	0.082
18	23614963	C	T	18	26034999	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.94693853285329E-5	0.014
18	23614964	T	A	18	26035000	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.5573586315994E-5	0.082
18	23614964	T	C	18	26035000	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.37090103124813E-4	0.118
18	23614964	T	G	18	26035000	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.94504062676719E-5	0.088
18	23614965	T	A	18	26035001	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.258954221166753	0.518
18	23614965	T	C	18	26035001	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.960601438597693	0.75
18	23614965	T	G	18	26035001	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.351836785953771	0.414
18	23614966	T	A	18	26035002	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999517947424638	0.702
18	23614966	T	C	18	26035002	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.921308735840843	0.528
18	23614966	T	G	18	26035002	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999517947424638	0.674
18	23614967	A	C	18	26035003	y	y	splicing	SS18(NM_005637:exon9:c.1003+2T>G;NM_001007559:exon10:c.1096+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.1096+2T>G;ENST00000542420:exon10:c.1027+2T>G;ENST00000542743:exon10:c.847+2T>G;ENST00000579640:exon10:c.1169+2T>G;ENST00000539849:exon9:c.850+2T>G;ENST00000269138:exon9:c.1011+2T>G;ENST00000269137:exon9:c.1003+2T>G;ENST00000545952:exon10:c.847+2T>G;ENST00000585121:exon10:c.1122+2T>G)	.	.	0.999976254090479	0.94
18	23614967	A	G	18	26035003	y	y	splicing	SS18(NM_005637:exon9:c.1003+2T>C;NM_001007559:exon10:c.1096+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.1096+2T>C;ENST00000542420:exon10:c.1027+2T>C;ENST00000542743:exon10:c.847+2T>C;ENST00000579640:exon10:c.1169+2T>C;ENST00000539849:exon9:c.850+2T>C;ENST00000269138:exon9:c.1011+2T>C;ENST00000269137:exon9:c.1003+2T>C;ENST00000545952:exon10:c.847+2T>C;ENST00000585121:exon10:c.1122+2T>C)	.	.	0.9998021516424	0.89
18	23614967	A	T	18	26035003	y	y	splicing	SS18(NM_005637:exon9:c.1003+2T>A;NM_001007559:exon10:c.1096+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.1096+2T>A;ENST00000542420:exon10:c.1027+2T>A;ENST00000542743:exon10:c.847+2T>A;ENST00000579640:exon10:c.1169+2T>A;ENST00000539849:exon9:c.850+2T>A;ENST00000269138:exon9:c.1011+2T>A;ENST00000269137:exon9:c.1003+2T>A;ENST00000545952:exon10:c.847+2T>A;ENST00000585121:exon10:c.1122+2T>A)	.	.	0.999986741007567	0.942
18	23614968	C	A	18	26035004	y	y	splicing	SS18(NM_005637:exon9:c.1003+1G>T;NM_001007559:exon10:c.1096+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.1096+1G>T;ENST00000542420:exon10:c.1027+1G>T;ENST00000542743:exon10:c.847+1G>T;ENST00000579640:exon10:c.1169+1G>T;ENST00000539849:exon9:c.850+1G>T;ENST00000269138:exon9:c.1011+1G>T;ENST00000269137:exon9:c.1003+1G>T;ENST00000545952:exon10:c.847+1G>T;ENST00000585121:exon10:c.1122+1G>T)	.	.	0.999983677848485	0.94
18	23614968	C	G	18	26035004	y	y	splicing	SS18(NM_005637:exon9:c.1003+1G>C;NM_001007559:exon10:c.1096+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.1096+1G>C;ENST00000542420:exon10:c.1027+1G>C;ENST00000542743:exon10:c.847+1G>C;ENST00000579640:exon10:c.1169+1G>C;ENST00000539849:exon9:c.850+1G>C;ENST00000269138:exon9:c.1011+1G>C;ENST00000269137:exon9:c.1003+1G>C;ENST00000545952:exon10:c.847+1G>C;ENST00000585121:exon10:c.1122+1G>C)	.	.	0.999983677848485	0.94
18	23614968	C	T	18	26035004	y	y	splicing	SS18(NM_005637:exon9:c.1003+1G>A;NM_001007559:exon10:c.1096+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.1096+1G>A;ENST00000542420:exon10:c.1027+1G>A;ENST00000542743:exon10:c.847+1G>A;ENST00000579640:exon10:c.1169+1G>A;ENST00000539849:exon9:c.850+1G>A;ENST00000269138:exon9:c.1011+1G>A;ENST00000269137:exon9:c.1003+1G>A;ENST00000545952:exon10:c.847+1G>A;ENST00000585121:exon10:c.1122+1G>A)	.	.	0.999983677848485	0.94
18	23614969	C	A	18	26035005	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.G1096T:p.G366C;SS18:NM_005637:exon8:c.G1003T:p.G335C;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.G847T:p.G283C;ENSG00000141380:ENST00000542743:exon9:c.G847T:p.G283C;ENSG00000141380:ENST00000539849:exon8:c.G850T:p.G284C;ENSG00000141380:ENST00000415083:exon9:c.G1096T:p.G366C;ENSG00000141380:ENST00000269137:exon8:c.G1003T:p.G335C;ENSG00000141380:ENST00000542420:exon9:c.G1027T:p.G343C;	0.999986235498088	1.0
18	23614969	C	G	18	26035005	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.G1096C:p.G366R;SS18:NM_005637:exon8:c.G1003C:p.G335R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.G847C:p.G283R;ENSG00000141380:ENST00000542743:exon9:c.G847C:p.G283R;ENSG00000141380:ENST00000539849:exon8:c.G850C:p.G284R;ENSG00000141380:ENST00000415083:exon9:c.G1096C:p.G366R;ENSG00000141380:ENST00000269137:exon8:c.G1003C:p.G335R;ENSG00000141380:ENST00000542420:exon9:c.G1027C:p.G343R;	0.999991657072335	0.998
18	23614969	C	T	18	26035005	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.G1096A:p.G366S;SS18:NM_005637:exon8:c.G1003A:p.G335S;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.G847A:p.G283S;ENSG00000141380:ENST00000542743:exon9:c.G847A:p.G283S;ENSG00000141380:ENST00000539849:exon8:c.G850A:p.G284S;ENSG00000141380:ENST00000415083:exon9:c.G1096A:p.G366S;ENSG00000141380:ENST00000269137:exon8:c.G1003A:p.G335S;ENSG00000141380:ENST00000542420:exon9:c.G1027A:p.G343S;	0.999996215673782	1.0
18	23614970	G	A	18	26035006	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon9:c.C1095T:p.Y365Y;SS18:NM_005637:exon8:c.C1002T:p.Y334Y;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.C846T:p.Y282Y;ENSG00000141380:ENST00000542743:exon9:c.C846T:p.Y282Y;ENSG00000141380:ENST00000539849:exon8:c.C849T:p.Y283Y;ENSG00000141380:ENST00000415083:exon9:c.C1095T:p.Y365Y;ENSG00000141380:ENST00000269137:exon8:c.C1002T:p.Y334Y;ENSG00000141380:ENST00000542420:exon9:c.C1026T:p.Y342Y;	0.00166695018410729	0.05
18	23614970	G	C	18	26035006	y	y	exonic	SS18	stopgain SNV	SS18:NM_001007559:exon9:c.C1095G:p.Y365X;SS18:NM_005637:exon8:c.C1002G:p.Y334X;	exonic	ENSG00000141380	stopgain SNV	ENSG00000141380:ENST00000545952:exon9:c.C846G:p.Y282X;ENSG00000141380:ENST00000542743:exon9:c.C846G:p.Y282X;ENSG00000141380:ENST00000539849:exon8:c.C849G:p.Y283X;ENSG00000141380:ENST00000415083:exon9:c.C1095G:p.Y365X;ENSG00000141380:ENST00000269137:exon8:c.C1002G:p.Y334X;ENSG00000141380:ENST00000542420:exon9:c.C1026G:p.Y342X;	0.00207012580234907	0.348
18	23614970	G	T	18	26035006	y	y	exonic	SS18	stopgain SNV	SS18:NM_001007559:exon9:c.C1095A:p.Y365X;SS18:NM_005637:exon8:c.C1002A:p.Y334X;	exonic	ENSG00000141380	stopgain SNV	ENSG00000141380:ENST00000545952:exon9:c.C846A:p.Y282X;ENSG00000141380:ENST00000542743:exon9:c.C846A:p.Y282X;ENSG00000141380:ENST00000539849:exon8:c.C849A:p.Y283X;ENSG00000141380:ENST00000415083:exon9:c.C1095A:p.Y365X;ENSG00000141380:ENST00000269137:exon8:c.C1002A:p.Y334X;ENSG00000141380:ENST00000542420:exon9:c.C1026A:p.Y342X;	9.48231574549137E-5	0.376
18	23614971	T	A	18	26035007	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.A1094T:p.Y365F;SS18:NM_005637:exon8:c.A1001T:p.Y334F;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.A845T:p.Y282F;ENSG00000141380:ENST00000542743:exon9:c.A845T:p.Y282F;ENSG00000141380:ENST00000539849:exon8:c.A848T:p.Y283F;ENSG00000141380:ENST00000415083:exon9:c.A1094T:p.Y365F;ENSG00000141380:ENST00000269137:exon8:c.A1001T:p.Y334F;ENSG00000141380:ENST00000542420:exon9:c.A1025T:p.Y342F;	0.99842743239813	0.754
18	23614971	T	C	18	26035007	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.A1094G:p.Y365C;SS18:NM_005637:exon8:c.A1001G:p.Y334C;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.A845G:p.Y282C;ENSG00000141380:ENST00000542743:exon9:c.A845G:p.Y282C;ENSG00000141380:ENST00000539849:exon8:c.A848G:p.Y283C;ENSG00000141380:ENST00000415083:exon9:c.A1094G:p.Y365C;ENSG00000141380:ENST00000269137:exon8:c.A1001G:p.Y334C;ENSG00000141380:ENST00000542420:exon9:c.A1025G:p.Y342C;	0.768255131820021	0.502
18	23614971	T	G	18	26035007	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.A1094C:p.Y365S;SS18:NM_005637:exon8:c.A1001C:p.Y334S;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.A845C:p.Y282S;ENSG00000141380:ENST00000542743:exon9:c.A845C:p.Y282S;ENSG00000141380:ENST00000539849:exon8:c.A848C:p.Y283S;ENSG00000141380:ENST00000415083:exon9:c.A1094C:p.Y365S;ENSG00000141380:ENST00000269137:exon8:c.A1001C:p.Y334S;ENSG00000141380:ENST00000542420:exon9:c.A1025C:p.Y342S;	0.322220270721018	0.334
18	23615090	T	A	18	26035126	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon9:c.A975T:p.G325G;SS18:NM_005637:exon8:c.A882T:p.G294G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.A726T:p.G242G;ENSG00000141380:ENST00000542743:exon9:c.A726T:p.G242G;ENSG00000141380:ENST00000539849:exon8:c.A729T:p.G243G;ENSG00000141380:ENST00000415083:exon9:c.A975T:p.G325G;ENSG00000141380:ENST00000269137:exon8:c.A882T:p.G294G;ENSG00000141380:ENST00000542420:exon9:c.A906T:p.G302G;	7.21972391959935E-4	0.034
18	23615090	T	C	18	26035126	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon9:c.A975G:p.G325G;SS18:NM_005637:exon8:c.A882G:p.G294G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.A726G:p.G242G;ENSG00000141380:ENST00000542743:exon9:c.A726G:p.G242G;ENSG00000141380:ENST00000539849:exon8:c.A729G:p.G243G;ENSG00000141380:ENST00000415083:exon9:c.A975G:p.G325G;ENSG00000141380:ENST00000269137:exon8:c.A882G:p.G294G;ENSG00000141380:ENST00000542420:exon9:c.A906G:p.G302G;	7.54341264972774E-4	0.036
18	23615090	T	G	18	26035126	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon9:c.A975C:p.G325G;SS18:NM_005637:exon8:c.A882C:p.G294G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.A726C:p.G242G;ENSG00000141380:ENST00000542743:exon9:c.A726C:p.G242G;ENSG00000141380:ENST00000539849:exon8:c.A729C:p.G243G;ENSG00000141380:ENST00000415083:exon9:c.A975C:p.G325G;ENSG00000141380:ENST00000269137:exon8:c.A882C:p.G294G;ENSG00000141380:ENST00000542420:exon9:c.A906C:p.G302G;	0.00199221198629709	0.04
18	23615091	C	A	18	26035127	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.G974T:p.G325V;SS18:NM_005637:exon8:c.G881T:p.G294V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.G725T:p.G242V;ENSG00000141380:ENST00000542743:exon9:c.G725T:p.G242V;ENSG00000141380:ENST00000539849:exon8:c.G728T:p.G243V;ENSG00000141380:ENST00000415083:exon9:c.G974T:p.G325V;ENSG00000141380:ENST00000269137:exon8:c.G881T:p.G294V;ENSG00000141380:ENST00000542420:exon9:c.G905T:p.G302V;	0.999964023694561	0.996
18	23615091	C	G	18	26035127	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.G974C:p.G325A;SS18:NM_005637:exon8:c.G881C:p.G294A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.G725C:p.G242A;ENSG00000141380:ENST00000542743:exon9:c.G725C:p.G242A;ENSG00000141380:ENST00000539849:exon8:c.G728C:p.G243A;ENSG00000141380:ENST00000415083:exon9:c.G974C:p.G325A;ENSG00000141380:ENST00000269137:exon8:c.G881C:p.G294A;ENSG00000141380:ENST00000542420:exon9:c.G905C:p.G302A;	0.999827034809431	0.99
18	23615091	C	T	18	26035127	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon9:c.G974A:p.G325E;SS18:NM_005637:exon8:c.G881A:p.G294E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon9:c.G725A:p.G242E;ENSG00000141380:ENST00000542743:exon9:c.G725A:p.G242E;ENSG00000141380:ENST00000539849:exon8:c.G728A:p.G243E;ENSG00000141380:ENST00000415083:exon9:c.G974A:p.G325E;ENSG00000141380:ENST00000269137:exon8:c.G881A:p.G294E;ENSG00000141380:ENST00000542420:exon9:c.G905A:p.G302E;	0.999802063993474	0.952
18	23615092	C	A	18	26035128	y	y	splicing	SS18(NM_005637:exon9:c.881-1G>T;NM_001007559:exon10:c.974-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.974-1G>T;ENST00000542420:exon10:c.905-1G>T;ENST00000542743:exon10:c.725-1G>T;ENST00000579640:exon10:c.1047-1G>T;ENST00000539849:exon9:c.728-1G>T;ENST00000269138:exon9:c.889-1G>T;ENST00000269137:exon9:c.881-1G>T;ENST00000545952:exon10:c.725-1G>T;ENST00000585121:exon10:c.1000-1G>T;ENST00000539244:exon9:c.897-1G>T)	.	.	0.999985532734767	0.948
18	23615092	C	G	18	26035128	y	y	splicing	SS18(NM_005637:exon9:c.881-1G>C;NM_001007559:exon10:c.974-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.974-1G>C;ENST00000542420:exon10:c.905-1G>C;ENST00000542743:exon10:c.725-1G>C;ENST00000579640:exon10:c.1047-1G>C;ENST00000539849:exon9:c.728-1G>C;ENST00000269138:exon9:c.889-1G>C;ENST00000269137:exon9:c.881-1G>C;ENST00000545952:exon10:c.725-1G>C;ENST00000585121:exon10:c.1000-1G>C;ENST00000539244:exon9:c.897-1G>C)	.	.	0.999974090184857	0.948
18	23615092	C	T	18	26035128	y	y	splicing	SS18(NM_005637:exon9:c.881-1G>A;NM_001007559:exon10:c.974-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.974-1G>A;ENST00000542420:exon10:c.905-1G>A;ENST00000542743:exon10:c.725-1G>A;ENST00000579640:exon10:c.1047-1G>A;ENST00000539849:exon9:c.728-1G>A;ENST00000269138:exon9:c.889-1G>A;ENST00000269137:exon9:c.881-1G>A;ENST00000545952:exon10:c.725-1G>A;ENST00000585121:exon10:c.1000-1G>A;ENST00000539244:exon9:c.897-1G>A)	.	.	0.999985532734767	0.948
18	23615093	T	A	18	26035129	y	y	splicing	SS18(NM_005637:exon9:c.881-2A>T;NM_001007559:exon10:c.974-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.974-2A>T;ENST00000542420:exon10:c.905-2A>T;ENST00000542743:exon10:c.725-2A>T;ENST00000579640:exon10:c.1047-2A>T;ENST00000539849:exon9:c.728-2A>T;ENST00000269138:exon9:c.889-2A>T;ENST00000269137:exon9:c.881-2A>T;ENST00000545952:exon10:c.725-2A>T;ENST00000585121:exon10:c.1000-2A>T;ENST00000539244:exon9:c.897-2A>T)	.	.	0.999978952611685	0.948
18	23615093	T	C	18	26035129	y	y	splicing	SS18(NM_005637:exon9:c.881-2A>G;NM_001007559:exon10:c.974-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.974-2A>G;ENST00000542420:exon10:c.905-2A>G;ENST00000542743:exon10:c.725-2A>G;ENST00000579640:exon10:c.1047-2A>G;ENST00000539849:exon9:c.728-2A>G;ENST00000269138:exon9:c.889-2A>G;ENST00000269137:exon9:c.881-2A>G;ENST00000545952:exon10:c.725-2A>G;ENST00000585121:exon10:c.1000-2A>G;ENST00000539244:exon9:c.897-2A>G)	.	.	0.99994568797423	0.946
18	23615093	T	G	18	26035129	y	y	splicing	SS18(NM_005637:exon9:c.881-2A>C;NM_001007559:exon10:c.974-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon10:c.974-2A>C;ENST00000542420:exon10:c.905-2A>C;ENST00000542743:exon10:c.725-2A>C;ENST00000579640:exon10:c.1047-2A>C;ENST00000539849:exon9:c.728-2A>C;ENST00000269138:exon9:c.889-2A>C;ENST00000269137:exon9:c.881-2A>C;ENST00000545952:exon10:c.725-2A>C;ENST00000585121:exon10:c.1000-2A>C;ENST00000539244:exon9:c.897-2A>C)	.	.	0.99994568797423	0.946
18	23615094	A	C	18	26035130	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.998530174388165	0.758
18	23615094	A	G	18	26035130	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.54199171041619E-5	0.02
18	23615094	A	T	18	26035130	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0586293686183102	0.424
18	23615095	C	A	18	26035131	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.98846882863725E-5	0.0
18	23615095	C	G	18	26035131	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.98865059929928E-6	0.0
18	23615095	C	T	18	26035131	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.75130897653928E-5	0.002
18	23615096	A	C	18	26035132	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.790951726740696	0.532
18	23615096	A	G	18	26035132	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.80353023765497E-4	0.128
18	23615096	A	T	18	26035132	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99977030262619	0.898
18	23615097	G	A	18	26035133	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.63183829636966E-5	0.002
18	23615097	G	C	18	26035133	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00196893664047557	0.278
18	23615097	G	T	18	26035133	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00259301070336087	0.286
18	23615098	G	A	18	26035134	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.2118850188836E-4	0.01
18	23615098	G	C	18	26035134	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00145273951772278	0.164
18	23615098	G	T	18	26035134	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00217735220465848	0.098
18	23615099	A	C	18	26035135	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.998365082217661	0.916
18	23615099	A	G	18	26035135	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.96318722682046E-5	0.002
18	23615099	A	T	18	26035135	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00381457411822412	0.122
18	23615100	T	A	18	26035136	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.16061036645169E-5	0.018
18	23615100	T	C	18	26035136	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.96900282732875E-4	0.002
18	23615100	T	G	18	26035136	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.20373762675214E-5	0.002
18	23615101	A	C	18	26035137	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.852810454109308	0.628
18	23615101	A	G	18	26035137	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00608165036563318	0.184
18	23615101	A	T	18	26035137	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.956517696810439	0.716
18	23615102	A	C	18	26035138	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999946046734716	0.966
18	23615102	A	G	18	26035138	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.859565257506843	0.448
18	23615102	A	T	18	26035138	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.990608947183164	0.858
18	23615103	T	A	18	26035139	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00148719511243679	0.038
18	23615103	T	C	18	26035139	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.998665623483878	0.918
18	23615103	T	G	18	26035139	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00138287522792423	0.022
18	23615787	A	C	18	26035823	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0016035297024807	0.018
18	23615787	A	G	18	26035823	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00471152314199616	0.0
18	23615787	A	T	18	26035823	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0016143558937643	0.01
18	23615788	T	A	18	26035824	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.12038568993659E-4	0.014
18	23615788	T	C	18	26035824	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.29057672645888E-4	0.0
18	23615788	T	G	18	26035824	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.41467804442277E-4	0.0
18	23615789	A	C	18	26035825	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.205567173900464	0.404
18	23615789	A	G	18	26035825	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.228089914990172	0.52
18	23615789	A	T	18	26035825	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.291433051053437	0.424
18	23615790	G	A	18	26035826	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0625911055522056	0.128
18	23615790	G	C	18	26035826	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.7553605944497E-4	0.066
18	23615790	G	T	18	26035826	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0101443972662912	0.142
18	23615791	A	C	18	26035827	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0782534050450377	0.206
18	23615791	A	G	18	26035827	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.160521895225313	0.21
18	23615791	A	T	18	26035827	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00227466877338154	0.056
18	23615792	T	A	18	26035828	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999901906873498	0.968
18	23615792	T	C	18	26035828	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999915850795397	0.958
18	23615792	T	G	18	26035828	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999906496027588	0.962
18	23615793	A	C	18	26035829	y	y	splicing	SS18(NM_001007559:exon9:c.973+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.973+2T>G;ENST00000542420:exon9:c.904+2T>G;ENST00000539849:exon8:c.727+2T>G;ENST00000269138:exon8:c.888+2T>G;ENST00000539244:exon8:c.896+2T>G)	.	.	0.999988247793601	0.906
18	23615793	A	G	18	26035829	y	y	splicing	SS18(NM_001007559:exon9:c.973+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.973+2T>C;ENST00000542420:exon9:c.904+2T>C;ENST00000539849:exon8:c.727+2T>C;ENST00000269138:exon8:c.888+2T>C;ENST00000539244:exon8:c.896+2T>C)	.	.	0.993196644742681	0.67
18	23615793	A	T	18	26035829	y	y	splicing	SS18(NM_001007559:exon9:c.973+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.973+2T>A;ENST00000542420:exon9:c.904+2T>A;ENST00000539849:exon8:c.727+2T>A;ENST00000269138:exon8:c.888+2T>A;ENST00000539244:exon8:c.896+2T>A)	.	.	0.999988247793601	0.916
18	23615794	C	A	18	26035830	y	y	splicing	SS18(NM_001007559:exon9:c.973+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.973+1G>T;ENST00000542420:exon9:c.904+1G>T;ENST00000539849:exon8:c.727+1G>T;ENST00000269138:exon8:c.888+1G>T;ENST00000539244:exon8:c.896+1G>T)	.	.	0.999989072007339	0.92
18	23615794	C	G	18	26035830	y	y	splicing	SS18(NM_001007559:exon9:c.973+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.973+1G>C;ENST00000542420:exon9:c.904+1G>C;ENST00000539849:exon8:c.727+1G>C;ENST00000269138:exon8:c.888+1G>C;ENST00000539244:exon8:c.896+1G>C)	.	.	0.999989072007339	0.92
18	23615794	C	T	18	26035830	y	y	splicing	SS18(NM_001007559:exon9:c.973+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.973+1G>A;ENST00000542420:exon9:c.904+1G>A;ENST00000539849:exon8:c.727+1G>A;ENST00000269138:exon8:c.888+1G>A;ENST00000539244:exon8:c.896+1G>A)	.	.	0.999989072007339	0.922
18	23615795	C	A	18	26035831	y	y	exonic	SS18	stopgain SNV	SS18:NM_001007559:exon8:c.G973T:p.G325X;	exonic	ENSG00000141380	stopgain SNV	ENSG00000141380:ENST00000539849:exon7:c.G727T:p.G243X;ENSG00000141380:ENST00000415083:exon8:c.G973T:p.G325X;ENSG00000141380:ENST00000542420:exon8:c.G904T:p.G302X;	0.999983756554809	0.814
18	23615795	C	G	18	26035831	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon8:c.G973C:p.G325R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.G727C:p.G243R;ENSG00000141380:ENST00000415083:exon8:c.G973C:p.G325R;ENSG00000141380:ENST00000542420:exon8:c.G904C:p.G302R;	0.999993086966153	0.99
18	23615795	C	T	18	26035831	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon8:c.G973A:p.G325R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.G727A:p.G243R;ENSG00000141380:ENST00000415083:exon8:c.G973A:p.G325R;ENSG00000141380:ENST00000542420:exon8:c.G904A:p.G302R;	0.999987166037402	0.992
18	23615796	T	A	18	26035832	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon8:c.A972T:p.G324G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.A726T:p.G242G;ENSG00000141380:ENST00000415083:exon8:c.A972T:p.G324G;ENSG00000141380:ENST00000542420:exon8:c.A903T:p.G301G;	0.999865158886526	0.976
18	23615796	T	C	18	26035832	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon8:c.A972G:p.G324G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.A726G:p.G242G;ENSG00000141380:ENST00000415083:exon8:c.A972G:p.G324G;ENSG00000141380:ENST00000542420:exon8:c.A903G:p.G301G;	0.999774721304435	0.988
18	23615796	T	G	18	26035832	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon8:c.A972C:p.G324G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.A726C:p.G242G;ENSG00000141380:ENST00000415083:exon8:c.A972C:p.G324G;ENSG00000141380:ENST00000542420:exon8:c.A903C:p.G301G;	0.99943014716665	0.972
18	23615797	C	A	18	26035833	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon8:c.G971T:p.G324V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.G725T:p.G242V;ENSG00000141380:ENST00000415083:exon8:c.G971T:p.G324V;ENSG00000141380:ENST00000542420:exon8:c.G902T:p.G301V;	0.990142108734231	0.696
18	23615797	C	G	18	26035833	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon8:c.G971C:p.G324A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.G725C:p.G242A;ENSG00000141380:ENST00000415083:exon8:c.G971C:p.G324A;ENSG00000141380:ENST00000542420:exon8:c.G902C:p.G301A;	0.961422949940733	0.722
18	23615797	C	T	18	26035833	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon8:c.G971A:p.G324E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.G725A:p.G242E;ENSG00000141380:ENST00000415083:exon8:c.G971A:p.G324E;ENSG00000141380:ENST00000542420:exon8:c.G902A:p.G301E;	0.957188392539152	0.78
18	23615886	A	C	18	26035922	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon8:c.T882G:p.G294G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.T636G:p.G212G;ENSG00000141380:ENST00000415083:exon8:c.T882G:p.G294G;ENSG00000141380:ENST00000542420:exon8:c.T813G:p.G271G;	0.00710513189133367	0.134
18	23615886	A	G	18	26035922	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon8:c.T882C:p.G294G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.T636C:p.G212G;ENSG00000141380:ENST00000415083:exon8:c.T882C:p.G294G;ENSG00000141380:ENST00000542420:exon8:c.T813C:p.G271G;	0.00710513189133367	0.136
18	23615886	A	T	18	26035922	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon8:c.T882A:p.G294G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.T636A:p.G212G;ENSG00000141380:ENST00000415083:exon8:c.T882A:p.G294G;ENSG00000141380:ENST00000542420:exon8:c.T813A:p.G271G;	0.00927669525014235	0.084
18	23615887	C	A	18	26035923	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon8:c.G881T:p.G294V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.G635T:p.G212V;ENSG00000141380:ENST00000415083:exon8:c.G881T:p.G294V;ENSG00000141380:ENST00000542420:exon8:c.G812T:p.G271V;	0.999838617299597	0.912
18	23615887	C	G	18	26035923	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon8:c.G881C:p.G294A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.G635C:p.G212A;ENSG00000141380:ENST00000415083:exon8:c.G881C:p.G294A;ENSG00000141380:ENST00000542420:exon8:c.G812C:p.G271A;	0.999764043857807	0.892
18	23615887	C	T	18	26035923	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon8:c.G881A:p.G294D;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539849:exon7:c.G635A:p.G212D;ENSG00000141380:ENST00000415083:exon8:c.G881A:p.G294D;ENSG00000141380:ENST00000542420:exon8:c.G812A:p.G271D;	0.99934738551251	0.88
18	23615888	C	A	18	26035924	y	y	splicing	SS18(NM_001007559:exon9:c.881-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.881-1G>T;ENST00000542420:exon9:c.812-1G>T;ENST00000539849:exon8:c.635-1G>T;ENST00000269138:exon8:c.796-1G>T;ENST00000539244:exon8:c.804-1G>T)	.	.	0.999983347500877	0.878
18	23615888	C	G	18	26035924	y	y	splicing	SS18(NM_001007559:exon9:c.881-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.881-1G>C;ENST00000542420:exon9:c.812-1G>C;ENST00000539849:exon8:c.635-1G>C;ENST00000269138:exon8:c.796-1G>C;ENST00000539244:exon8:c.804-1G>C)	.	.	0.999983347500877	0.876
18	23615888	C	T	18	26035924	y	y	splicing	SS18(NM_001007559:exon9:c.881-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.881-1G>A;ENST00000542420:exon9:c.812-1G>A;ENST00000539849:exon8:c.635-1G>A;ENST00000269138:exon8:c.796-1G>A;ENST00000539244:exon8:c.804-1G>A)	.	.	0.999983347500877	0.88
18	23615889	T	A	18	26035925	y	y	splicing	SS18(NM_001007559:exon9:c.881-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.881-2A>T;ENST00000542420:exon9:c.812-2A>T;ENST00000539849:exon8:c.635-2A>T;ENST00000269138:exon8:c.796-2A>T;ENST00000539244:exon8:c.804-2A>T)	.	.	0.99994515364607	0.88
18	23615889	T	C	18	26035925	y	y	splicing	SS18(NM_001007559:exon9:c.881-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.881-2A>G;ENST00000542420:exon9:c.812-2A>G;ENST00000539849:exon8:c.635-2A>G;ENST00000269138:exon8:c.796-2A>G;ENST00000539244:exon8:c.804-2A>G)	.	.	0.999944411775892	0.88
18	23615889	T	G	18	26035925	y	y	splicing	SS18(NM_001007559:exon9:c.881-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon9:c.881-2A>C;ENST00000542420:exon9:c.812-2A>C;ENST00000539849:exon8:c.635-2A>C;ENST00000269138:exon8:c.796-2A>C;ENST00000539244:exon8:c.804-2A>C)	.	.	0.999944411775892	0.88
18	23615890	A	C	18	26035926	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.974869603589753	0.618
18	23615890	A	G	18	26035926	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.02208108796395E-4	0.046
18	23615890	A	T	18	26035926	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.680172373692081	0.502
18	23615891	C	A	18	26035927	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0108882378153374	0.142
18	23615891	C	G	18	26035927	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00655836446049893	0.048
18	23615891	C	T	18	26035927	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0125768450071445	0.106
18	23615892	A	C	18	26035928	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999820146518047	0.912
18	23615892	A	G	18	26035928	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0346853963567243	0.266
18	23615892	A	T	18	26035928	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999378313535484	0.898
18	23615893	T	A	18	26035929	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00269248896022934	0.028
18	23615893	T	C	18	26035929	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00362191579414258	0.046
18	23615893	T	G	18	26035929	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00404740970125887	0.06
18	23615894	C	A	18	26035930	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00180293589018062	0.048
18	23615894	C	G	18	26035930	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00131102594866201	0.044
18	23615894	C	T	18	26035930	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00908144027768984	0.12
18	23615895	A	C	18	26035931	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.57275789588937	0.614
18	23615895	A	G	18	26035931	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00155348870958543	0.028
18	23615895	A	T	18	26035931	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999009710997106	0.902
18	23615896	A	C	18	26035932	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999927561757703	0.934
18	23615896	A	G	18	26035932	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.364115095291435	0.39
18	23615896	A	T	18	26035932	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.996632876192414	0.832
18	23615897	T	A	18	26035933	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.597405206845575	0.58
18	23615897	T	C	18	26035933	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999786739522918	0.934
18	23615897	T	G	18	26035933	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.598410984804354	0.618
18	23615898	T	A	18	26035934	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.695746926964402	0.578
18	23615898	T	C	18	26035934	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.73412252203434	0.622
18	23615898	T	G	18	26035934	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.618907229056085	0.632
18	23615899	C	A	18	26035935	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.961549112647826	0.704
18	23615899	C	G	18	26035935	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.938177414556977	0.742
18	23615899	C	T	18	26035935	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.980423487154654	0.724
18	23618511	G	A	18	26038547	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0666361011874071	0.222
18	23618511	G	C	18	26038547	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0619448255510587	0.214
18	23618511	G	T	18	26038547	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0619448255510587	0.224
18	23618512	A	C	18	26038548	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0123946326844633	0.094
18	23618512	A	G	18	26038548	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0123946326844633	0.09
18	23618512	A	T	18	26038548	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0229488554271808	0.088
18	23618513	G	A	18	26038549	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.42076250709299E-4	0.026
18	23618513	G	C	18	26038549	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.94807093612491E-4	0.024
18	23618513	G	T	18	26038549	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.56020843652549E-4	0.082
18	23618514	A	C	18	26038550	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00174698983432221	0.106
18	23618514	A	G	18	26038550	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00221057223122106	0.128
18	23618514	A	T	18	26038550	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0216239152922769	0.074
18	23618515	T	A	18	26038551	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99987908442103	0.934
18	23618515	T	C	18	26038551	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99982828654541	0.984
18	23618515	T	G	18	26038551	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999830574475602	0.912
18	23618516	T	A	18	26038552	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999922870829846	0.906
18	23618516	T	C	18	26038552	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999668330069775	0.928
18	23618516	T	G	18	26038552	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999821242643001	0.908
18	23618517	A	C	18	26038553	y	y	splicing	SS18(NM_005637:exon8:c.880+2T>G;NM_001007559:exon8:c.880+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.880+2T>G;ENST00000542420:exon8:c.811+2T>G;ENST00000542743:exon9:c.724+2T>G;ENST00000579640:exon9:c.1046+2T>G;ENST00000539849:exon7:c.634+2T>G;ENST00000269138:exon7:c.795+2T>G;ENST00000269137:exon8:c.880+2T>G;ENST00000545952:exon9:c.724+2T>G;ENST00000585121:exon9:c.999+2T>G;ENST00000539244:exon7:c.803+2T>G)	.	.	0.999986741007567	0.944
18	23618517	A	G	18	26038553	y	y	splicing	SS18(NM_005637:exon8:c.880+2T>C;NM_001007559:exon8:c.880+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.880+2T>C;ENST00000542420:exon8:c.811+2T>C;ENST00000542743:exon9:c.724+2T>C;ENST00000579640:exon9:c.1046+2T>C;ENST00000539849:exon7:c.634+2T>C;ENST00000269138:exon7:c.795+2T>C;ENST00000269137:exon8:c.880+2T>C;ENST00000545952:exon9:c.724+2T>C;ENST00000585121:exon9:c.999+2T>C;ENST00000539244:exon7:c.803+2T>C)	.	.	0.999910795524232	0.886
18	23618517	A	T	18	26038553	y	y	splicing	SS18(NM_005637:exon8:c.880+2T>A;NM_001007559:exon8:c.880+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.880+2T>A;ENST00000542420:exon8:c.811+2T>A;ENST00000542743:exon9:c.724+2T>A;ENST00000579640:exon9:c.1046+2T>A;ENST00000539849:exon7:c.634+2T>A;ENST00000269138:exon7:c.795+2T>A;ENST00000269137:exon8:c.880+2T>A;ENST00000545952:exon9:c.724+2T>A;ENST00000585121:exon9:c.999+2T>A;ENST00000539244:exon7:c.803+2T>A)	.	.	0.999986741007567	0.944
18	23618518	C	A	18	26038554	y	y	splicing	SS18(NM_005637:exon8:c.880+1G>T;NM_001007559:exon8:c.880+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.880+1G>T;ENST00000542420:exon8:c.811+1G>T;ENST00000542743:exon9:c.724+1G>T;ENST00000579640:exon9:c.1046+1G>T;ENST00000539849:exon7:c.634+1G>T;ENST00000269138:exon7:c.795+1G>T;ENST00000269137:exon8:c.880+1G>T;ENST00000545952:exon9:c.724+1G>T;ENST00000585121:exon9:c.999+1G>T;ENST00000539244:exon7:c.803+1G>T)	.	.	0.999987670894945	0.94
18	23618518	C	G	18	26038554	y	y	splicing	SS18(NM_005637:exon8:c.880+1G>C;NM_001007559:exon8:c.880+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.880+1G>C;ENST00000542420:exon8:c.811+1G>C;ENST00000542743:exon9:c.724+1G>C;ENST00000579640:exon9:c.1046+1G>C;ENST00000539849:exon7:c.634+1G>C;ENST00000269138:exon7:c.795+1G>C;ENST00000269137:exon8:c.880+1G>C;ENST00000545952:exon9:c.724+1G>C;ENST00000585121:exon9:c.999+1G>C;ENST00000539244:exon7:c.803+1G>C)	.	.	0.999987670894945	0.94
18	23618518	C	T	18	26038554	y	y	splicing	SS18(NM_005637:exon8:c.880+1G>A;NM_001007559:exon8:c.880+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.880+1G>A;ENST00000542420:exon8:c.811+1G>A;ENST00000542743:exon9:c.724+1G>A;ENST00000579640:exon9:c.1046+1G>A;ENST00000539849:exon7:c.634+1G>A;ENST00000269138:exon7:c.795+1G>A;ENST00000269137:exon8:c.880+1G>A;ENST00000545952:exon9:c.724+1G>A;ENST00000585121:exon9:c.999+1G>A;ENST00000539244:exon7:c.803+1G>A)	.	.	0.999987670894945	0.94
18	23618519	C	A	18	26038555	y	y	exonic	SS18	stopgain SNV	SS18:NM_005637:exon7:c.G880T:p.G294X;	exonic	ENSG00000141380	stopgain SNV	ENSG00000141380:ENST00000545952:exon8:c.G724T:p.G242X;ENSG00000141380:ENST00000542743:exon8:c.G724T:p.G242X;ENSG00000141380:ENST00000269137:exon7:c.G880T:p.G294X;	0.999981495830968	0.902
18	23618519	C	G	18	26038555	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.G880C:p.G294R;SS18:NM_005637:exon7:c.G880C:p.G294R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.G724C:p.G242R;ENSG00000141380:ENST00000542743:exon8:c.G724C:p.G242R;ENSG00000141380:ENST00000539849:exon6:c.G634C:p.G212R;ENSG00000141380:ENST00000415083:exon7:c.G880C:p.G294R;ENSG00000141380:ENST00000269137:exon7:c.G880C:p.G294R;ENSG00000141380:ENST00000542420:exon7:c.G811C:p.G271R;	0.999994012305464	1.0
18	23618519	C	T	18	26038555	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.G880A:p.G294S;SS18:NM_005637:exon7:c.G880A:p.G294R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.G724A:p.G242R;ENSG00000141380:ENST00000542743:exon8:c.G724A:p.G242R;ENSG00000141380:ENST00000539849:exon6:c.G634A:p.G212S;ENSG00000141380:ENST00000415083:exon7:c.G880A:p.G294S;ENSG00000141380:ENST00000269137:exon7:c.G880A:p.G294R;ENSG00000141380:ENST00000542420:exon7:c.G811A:p.G271S;	0.999995135803919	1.0
18	23618520	A	C	18	26038556	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.T879G:p.D293E;SS18:NM_005637:exon7:c.T879G:p.D293E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.T723G:p.D241E;ENSG00000141380:ENST00000542743:exon8:c.T723G:p.D241E;ENSG00000141380:ENST00000539849:exon6:c.T633G:p.D211E;ENSG00000141380:ENST00000415083:exon7:c.T879G:p.D293E;ENSG00000141380:ENST00000269137:exon7:c.T879G:p.D293E;ENSG00000141380:ENST00000542420:exon7:c.T810G:p.D270E;	0.973060958321365	0.72
18	23618520	A	G	18	26038556	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon7:c.T879C:p.D293D;SS18:NM_005637:exon7:c.T879C:p.D293D;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.T723C:p.D241D;ENSG00000141380:ENST00000542743:exon8:c.T723C:p.D241D;ENSG00000141380:ENST00000539849:exon6:c.T633C:p.D211D;ENSG00000141380:ENST00000415083:exon7:c.T879C:p.D293D;ENSG00000141380:ENST00000269137:exon7:c.T879C:p.D293D;ENSG00000141380:ENST00000542420:exon7:c.T810C:p.D270D;	0.205879855934027	0.396
18	23618520	A	T	18	26038556	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.T879A:p.D293E;SS18:NM_005637:exon7:c.T879A:p.D293E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.T723A:p.D241E;ENSG00000141380:ENST00000542743:exon8:c.T723A:p.D241E;ENSG00000141380:ENST00000539849:exon6:c.T633A:p.D211E;ENSG00000141380:ENST00000415083:exon7:c.T879A:p.D293E;ENSG00000141380:ENST00000269137:exon7:c.T879A:p.D293E;ENSG00000141380:ENST00000542420:exon7:c.T810A:p.D270E;	0.787306531477471	0.472
18	23618521	T	A	18	26038557	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.A878T:p.D293V;SS18:NM_005637:exon7:c.A878T:p.D293V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.A722T:p.D241V;ENSG00000141380:ENST00000542743:exon8:c.A722T:p.D241V;ENSG00000141380:ENST00000539849:exon6:c.A632T:p.D211V;ENSG00000141380:ENST00000415083:exon7:c.A878T:p.D293V;ENSG00000141380:ENST00000269137:exon7:c.A878T:p.D293V;ENSG00000141380:ENST00000542420:exon7:c.A809T:p.D270V;	0.999153117446934	0.772
18	23618521	T	C	18	26038557	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.A878G:p.D293G;SS18:NM_005637:exon7:c.A878G:p.D293G;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.A722G:p.D241G;ENSG00000141380:ENST00000542743:exon8:c.A722G:p.D241G;ENSG00000141380:ENST00000539849:exon6:c.A632G:p.D211G;ENSG00000141380:ENST00000415083:exon7:c.A878G:p.D293G;ENSG00000141380:ENST00000269137:exon7:c.A878G:p.D293G;ENSG00000141380:ENST00000542420:exon7:c.A809G:p.D270G;	0.864069520137139	0.556
18	23618521	T	G	18	26038557	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.A878C:p.D293A;SS18:NM_005637:exon7:c.A878C:p.D293A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.A722C:p.D241A;ENSG00000141380:ENST00000542743:exon8:c.A722C:p.D241A;ENSG00000141380:ENST00000539849:exon6:c.A632C:p.D211A;ENSG00000141380:ENST00000415083:exon7:c.A878C:p.D293A;ENSG00000141380:ENST00000269137:exon7:c.A878C:p.D293A;ENSG00000141380:ENST00000542420:exon7:c.A809C:p.D270A;	0.848562927680162	0.592
18	23618622	G	A	18	26038658	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon7:c.C777T:p.G259G;SS18:NM_005637:exon7:c.C777T:p.G259G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.C621T:p.G207G;ENSG00000141380:ENST00000542743:exon8:c.C621T:p.G207G;ENSG00000141380:ENST00000539849:exon6:c.C531T:p.G177G;ENSG00000141380:ENST00000415083:exon7:c.C777T:p.G259G;ENSG00000141380:ENST00000269137:exon7:c.C777T:p.G259G;ENSG00000141380:ENST00000542420:exon7:c.C708T:p.G236G;	6.36415587586806E-5	0.01
18	23618622	G	C	18	26038658	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon7:c.C777G:p.G259G;SS18:NM_005637:exon7:c.C777G:p.G259G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.C621G:p.G207G;ENSG00000141380:ENST00000542743:exon8:c.C621G:p.G207G;ENSG00000141380:ENST00000539849:exon6:c.C531G:p.G177G;ENSG00000141380:ENST00000415083:exon7:c.C777G:p.G259G;ENSG00000141380:ENST00000269137:exon7:c.C777G:p.G259G;ENSG00000141380:ENST00000542420:exon7:c.C708G:p.G236G;	1.84865121706905E-5	0.018
18	23618622	G	T	18	26038658	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon7:c.C777A:p.G259G;SS18:NM_005637:exon7:c.C777A:p.G259G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.C621A:p.G207G;ENSG00000141380:ENST00000542743:exon8:c.C621A:p.G207G;ENSG00000141380:ENST00000539849:exon6:c.C531A:p.G177G;ENSG00000141380:ENST00000415083:exon7:c.C777A:p.G259G;ENSG00000141380:ENST00000269137:exon7:c.C777A:p.G259G;ENSG00000141380:ENST00000542420:exon7:c.C708A:p.G236G;	8.86745353257014E-5	0.014
18	23618623	C	A	18	26038659	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.G776T:p.G259V;SS18:NM_005637:exon7:c.G776T:p.G259V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.G620T:p.G207V;ENSG00000141380:ENST00000542743:exon8:c.G620T:p.G207V;ENSG00000141380:ENST00000539849:exon6:c.G530T:p.G177V;ENSG00000141380:ENST00000415083:exon7:c.G776T:p.G259V;ENSG00000141380:ENST00000269137:exon7:c.G776T:p.G259V;ENSG00000141380:ENST00000542420:exon7:c.G707T:p.G236V;	0.977978672486091	0.834
18	23618623	C	G	18	26038659	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.G776C:p.G259A;SS18:NM_005637:exon7:c.G776C:p.G259A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.G620C:p.G207A;ENSG00000141380:ENST00000542743:exon8:c.G620C:p.G207A;ENSG00000141380:ENST00000539849:exon6:c.G530C:p.G177A;ENSG00000141380:ENST00000415083:exon7:c.G776C:p.G259A;ENSG00000141380:ENST00000269137:exon7:c.G776C:p.G259A;ENSG00000141380:ENST00000542420:exon7:c.G707C:p.G236A;	0.980841774326638	0.726
18	23618623	C	T	18	26038659	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon7:c.G776A:p.G259D;SS18:NM_005637:exon7:c.G776A:p.G259D;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon8:c.G620A:p.G207D;ENSG00000141380:ENST00000542743:exon8:c.G620A:p.G207D;ENSG00000141380:ENST00000539849:exon6:c.G530A:p.G177D;ENSG00000141380:ENST00000415083:exon7:c.G776A:p.G259D;ENSG00000141380:ENST00000269137:exon7:c.G776A:p.G259D;ENSG00000141380:ENST00000542420:exon7:c.G707A:p.G236D;	0.607409321879503	0.48
18	23618624	C	A	18	26038660	y	y	splicing	SS18(NM_005637:exon8:c.776-1G>T;NM_001007559:exon8:c.776-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.776-1G>T;ENST00000542420:exon8:c.707-1G>T;ENST00000542743:exon9:c.620-1G>T;ENST00000579640:exon9:c.942-1G>T;ENST00000539849:exon7:c.530-1G>T;ENST00000269138:exon7:c.691-1G>T;ENST00000269137:exon8:c.776-1G>T;ENST00000545952:exon9:c.620-1G>T;ENST00000585121:exon9:c.895-1G>T;ENST00000539244:exon7:c.699-1G>T)	.	.	0.999971209564868	0.936
18	23618624	C	G	18	26038660	y	y	splicing	SS18(NM_005637:exon8:c.776-1G>C;NM_001007559:exon8:c.776-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.776-1G>C;ENST00000542420:exon8:c.707-1G>C;ENST00000542743:exon9:c.620-1G>C;ENST00000579640:exon9:c.942-1G>C;ENST00000539849:exon7:c.530-1G>C;ENST00000269138:exon7:c.691-1G>C;ENST00000269137:exon8:c.776-1G>C;ENST00000545952:exon9:c.620-1G>C;ENST00000585121:exon9:c.895-1G>C;ENST00000539244:exon7:c.699-1G>C)	.	.	0.999971209564868	0.936
18	23618624	C	T	18	26038660	y	y	splicing	SS18(NM_005637:exon8:c.776-1G>A;NM_001007559:exon8:c.776-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.776-1G>A;ENST00000542420:exon8:c.707-1G>A;ENST00000542743:exon9:c.620-1G>A;ENST00000579640:exon9:c.942-1G>A;ENST00000539849:exon7:c.530-1G>A;ENST00000269138:exon7:c.691-1G>A;ENST00000269137:exon8:c.776-1G>A;ENST00000545952:exon9:c.620-1G>A;ENST00000585121:exon9:c.895-1G>A;ENST00000539244:exon7:c.699-1G>A)	.	.	0.99995586615188	0.938
18	23618625	T	A	18	26038661	y	y	splicing	SS18(NM_005637:exon8:c.776-2A>T;NM_001007559:exon8:c.776-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.776-2A>T;ENST00000542420:exon8:c.707-2A>T;ENST00000542743:exon9:c.620-2A>T;ENST00000579640:exon9:c.942-2A>T;ENST00000539849:exon7:c.530-2A>T;ENST00000269138:exon7:c.691-2A>T;ENST00000269137:exon8:c.776-2A>T;ENST00000545952:exon9:c.620-2A>T;ENST00000585121:exon9:c.895-2A>T;ENST00000539244:exon7:c.699-2A>T)	.	.	0.999639164250855	0.802
18	23618625	T	C	18	26038661	y	y	splicing	SS18(NM_005637:exon8:c.776-2A>G;NM_001007559:exon8:c.776-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.776-2A>G;ENST00000542420:exon8:c.707-2A>G;ENST00000542743:exon9:c.620-2A>G;ENST00000579640:exon9:c.942-2A>G;ENST00000539849:exon7:c.530-2A>G;ENST00000269138:exon7:c.691-2A>G;ENST00000269137:exon8:c.776-2A>G;ENST00000545952:exon9:c.620-2A>G;ENST00000585121:exon9:c.895-2A>G;ENST00000539244:exon7:c.699-2A>G)	.	.	0.999639164250855	0.766
18	23618625	T	G	18	26038661	y	y	splicing	SS18(NM_005637:exon8:c.776-2A>C;NM_001007559:exon8:c.776-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon8:c.776-2A>C;ENST00000542420:exon8:c.707-2A>C;ENST00000542743:exon9:c.620-2A>C;ENST00000579640:exon9:c.942-2A>C;ENST00000539849:exon7:c.530-2A>C;ENST00000269138:exon7:c.691-2A>C;ENST00000269137:exon8:c.776-2A>C;ENST00000545952:exon9:c.620-2A>C;ENST00000585121:exon9:c.895-2A>C;ENST00000539244:exon7:c.699-2A>C)	.	.	0.999639164250855	0.77
18	23618626	G	A	18	26038662	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0243937887931723	0.2
18	23618626	G	C	18	26038662	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99982997946859	0.866
18	23618626	G	T	18	26038662	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.977016821505584	0.518
18	23618627	A	C	18	26038663	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.71998746187644E-5	0.014
18	23618627	A	G	18	26038663	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.87951289077546E-5	0.022
18	23618627	A	T	18	26038663	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.13698546174792E-4	0.004
18	23618628	A	C	18	26038664	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.854685729762364	0.44
18	23618628	A	G	18	26038664	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00262838887996423	0.106
18	23618628	A	T	18	26038664	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.620169770218908	0.31
18	23618629	A	C	18	26038665	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.988685552403233	0.676
18	23618629	A	G	18	26038665	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00290281722842361	0.112
18	23618629	A	T	18	26038665	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.973542931830345	0.628
18	23618630	A	C	18	26038666	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.263792349087177	0.372
18	23618630	A	G	18	26038666	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.29866127416607E-4	0.066
18	23618630	A	T	18	26038666	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.745568142207676	0.53
18	23618631	A	C	18	26038667	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.27752442486712	0.448
18	23618631	A	G	18	26038667	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00189496341664044	0.066
18	23618631	A	T	18	26038667	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.648773690420831	0.544
18	23618632	C	A	18	26038668	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.00687958808335E-5	0.002
18	23618632	C	G	18	26038668	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.89507337863236E-6	0.0
18	23618632	C	T	18	26038668	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.911113394652E-5	0.0
18	23618633	C	A	18	26038669	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.03528113750771E-5	0.0
18	23618633	C	G	18	26038669	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.09699963055414E-5	0.0
18	23618633	C	T	18	26038669	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.996926070711494	0.954
18	23618634	A	C	18	26038670	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.611540471215505	0.434
18	23618634	A	G	18	26038670	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0240721871587668	0.214
18	23618634	A	T	18	26038670	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999864829463649	0.942
18	23618635	C	A	18	26038671	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.75713038146717E-4	0.016
18	23618635	C	G	18	26038671	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.49331223417978E-4	0.002
18	23618635	C	T	18	26038671	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00127641838401898	0.078
18	23619245	A	C	18	26039281	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.50014361262222E-4	0.01
18	23619245	A	G	18	26039281	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.515380028786E-4	0.002
18	23619245	A	T	18	26039281	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.50713684163229E-4	0.014
18	23619246	A	C	18	26039282	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.10778896013591E-5	0.0
18	23619246	A	G	18	26039282	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.10778896013591E-5	0.0
18	23619246	A	T	18	26039282	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.10778896013591E-5	0.0
18	23619247	T	A	18	26039283	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.03410409482844E-4	0.01
18	23619247	T	C	18	26039283	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.72294113938262E-4	0.04
18	23619247	T	G	18	26039283	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00140467045625706	0.086
18	23619248	C	A	18	26039284	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999558615888106	0.836
18	23619248	C	G	18	26039284	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999707027572748	0.928
18	23619248	C	T	18	26039284	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.995113559129922	0.858
18	23619249	T	A	18	26039285	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.402851401648372	0.382
18	23619249	T	C	18	26039285	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.604886752007444	0.522
18	23619249	T	G	18	26039285	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.384653002888079	0.34
18	23619250	T	A	18	26039286	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.985331905400012	0.574
18	23619250	T	C	18	26039286	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.03969287828618	0.204
18	23619250	T	G	18	26039286	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.938456163852047	0.536
18	23619251	A	C	18	26039287	y	y	splicing	SS18(NM_005637:exon7:c.775+2T>G;NM_001007559:exon7:c.775+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.775+2T>G;ENST00000542420:exon7:c.706+2T>G;ENST00000542743:exon8:c.619+2T>G;ENST00000579640:exon8:c.941+2T>G;ENST00000539849:exon6:c.529+2T>G;ENST00000269138:exon6:c.690+2T>G;ENST00000269137:exon7:c.775+2T>G;ENST00000545952:exon8:c.619+2T>G;ENST00000585121:exon8:c.894+2T>G;ENST00000539244:exon6:c.698+2T>G)	.	.	0.999988247793601	0.928
18	23619251	A	G	18	26039287	y	y	splicing	SS18(NM_005637:exon7:c.775+2T>C;NM_001007559:exon7:c.775+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.775+2T>C;ENST00000542420:exon7:c.706+2T>C;ENST00000542743:exon8:c.619+2T>C;ENST00000579640:exon8:c.941+2T>C;ENST00000539849:exon6:c.529+2T>C;ENST00000269138:exon6:c.690+2T>C;ENST00000269137:exon7:c.775+2T>C;ENST00000545952:exon8:c.619+2T>C;ENST00000585121:exon8:c.894+2T>C;ENST00000539244:exon6:c.698+2T>C)	.	.	0.99991522016916	0.884
18	23619251	A	T	18	26039287	y	y	splicing	SS18(NM_005637:exon7:c.775+2T>A;NM_001007559:exon7:c.775+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.775+2T>A;ENST00000542420:exon7:c.706+2T>A;ENST00000542743:exon8:c.619+2T>A;ENST00000579640:exon8:c.941+2T>A;ENST00000539849:exon6:c.529+2T>A;ENST00000269138:exon6:c.690+2T>A;ENST00000269137:exon7:c.775+2T>A;ENST00000545952:exon8:c.619+2T>A;ENST00000585121:exon8:c.894+2T>A;ENST00000539244:exon6:c.698+2T>A)	.	.	0.999988247793601	0.928
18	23619252	C	A	18	26039288	y	y	splicing	SS18(NM_005637:exon7:c.775+1G>T;NM_001007559:exon7:c.775+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.775+1G>T;ENST00000542420:exon7:c.706+1G>T;ENST00000542743:exon8:c.619+1G>T;ENST00000579640:exon8:c.941+1G>T;ENST00000539849:exon6:c.529+1G>T;ENST00000269138:exon6:c.690+1G>T;ENST00000269137:exon7:c.775+1G>T;ENST00000545952:exon8:c.619+1G>T;ENST00000585121:exon8:c.894+1G>T;ENST00000539244:exon6:c.698+1G>T)	.	.	0.999985532734767	0.938
18	23619252	C	G	18	26039288	y	y	splicing	SS18(NM_005637:exon7:c.775+1G>C;NM_001007559:exon7:c.775+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.775+1G>C;ENST00000542420:exon7:c.706+1G>C;ENST00000542743:exon8:c.619+1G>C;ENST00000579640:exon8:c.941+1G>C;ENST00000539849:exon6:c.529+1G>C;ENST00000269138:exon6:c.690+1G>C;ENST00000269137:exon7:c.775+1G>C;ENST00000545952:exon8:c.619+1G>C;ENST00000585121:exon8:c.894+1G>C;ENST00000539244:exon6:c.698+1G>C)	.	.	0.999985532734767	0.938
18	23619252	C	T	18	26039288	y	y	splicing	SS18(NM_005637:exon7:c.775+1G>A;NM_001007559:exon7:c.775+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.775+1G>A;ENST00000542420:exon7:c.706+1G>A;ENST00000542743:exon8:c.619+1G>A;ENST00000579640:exon8:c.941+1G>A;ENST00000539849:exon6:c.529+1G>A;ENST00000269138:exon6:c.690+1G>A;ENST00000269137:exon7:c.775+1G>A;ENST00000545952:exon8:c.619+1G>A;ENST00000585121:exon8:c.894+1G>A;ENST00000539244:exon6:c.698+1G>A)	.	.	0.999985532734767	0.938
18	23619253	C	A	18	26039289	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.G775T:p.G259C;SS18:NM_005637:exon6:c.G775T:p.G259C;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G619T:p.G207C;ENSG00000141380:ENST00000542743:exon7:c.G619T:p.G207C;ENSG00000141380:ENST00000539849:exon5:c.G529T:p.G177C;ENSG00000141380:ENST00000415083:exon6:c.G775T:p.G259C;ENSG00000141380:ENST00000269137:exon6:c.G775T:p.G259C;ENSG00000141380:ENST00000542420:exon6:c.G706T:p.G236C;	0.999986505257242	0.942
18	23619253	C	G	18	26039289	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.G775C:p.G259R;SS18:NM_005637:exon6:c.G775C:p.G259R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G619C:p.G207R;ENSG00000141380:ENST00000542743:exon7:c.G619C:p.G207R;ENSG00000141380:ENST00000539849:exon5:c.G529C:p.G177R;ENSG00000141380:ENST00000415083:exon6:c.G775C:p.G259R;ENSG00000141380:ENST00000269137:exon6:c.G775C:p.G259R;ENSG00000141380:ENST00000542420:exon6:c.G706C:p.G236R;	0.999981019350968	0.982
18	23619253	C	T	18	26039289	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.G775A:p.G259S;SS18:NM_005637:exon6:c.G775A:p.G259S;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G619A:p.G207S;ENSG00000141380:ENST00000542743:exon7:c.G619A:p.G207S;ENSG00000141380:ENST00000539849:exon5:c.G529A:p.G177S;ENSG00000141380:ENST00000415083:exon6:c.G775A:p.G259S;ENSG00000141380:ENST00000269137:exon6:c.G775A:p.G259S;ENSG00000141380:ENST00000542420:exon6:c.G706A:p.G236S;	0.99998465790067	0.992
18	23619254	C	A	18	26039290	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.G774T:p.Q258H;SS18:NM_005637:exon6:c.G774T:p.Q258H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G618T:p.Q206H;ENSG00000141380:ENST00000542743:exon7:c.G618T:p.Q206H;ENSG00000141380:ENST00000539849:exon5:c.G528T:p.Q176H;ENSG00000141380:ENST00000415083:exon6:c.G774T:p.Q258H;ENSG00000141380:ENST00000269137:exon6:c.G774T:p.Q258H;ENSG00000141380:ENST00000542420:exon6:c.G705T:p.Q235H;	0.992855718413989	0.854
18	23619254	C	G	18	26039290	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.G774C:p.Q258H;SS18:NM_005637:exon6:c.G774C:p.Q258H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G618C:p.Q206H;ENSG00000141380:ENST00000542743:exon7:c.G618C:p.Q206H;ENSG00000141380:ENST00000539849:exon5:c.G528C:p.Q176H;ENSG00000141380:ENST00000415083:exon6:c.G774C:p.Q258H;ENSG00000141380:ENST00000269137:exon6:c.G774C:p.Q258H;ENSG00000141380:ENST00000542420:exon6:c.G705C:p.Q235H;	0.987838041406478	0.908
18	23619254	C	T	18	26039290	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon6:c.G774A:p.Q258Q;SS18:NM_005637:exon6:c.G774A:p.Q258Q;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G618A:p.Q206Q;ENSG00000141380:ENST00000542743:exon7:c.G618A:p.Q206Q;ENSG00000141380:ENST00000539849:exon5:c.G528A:p.Q176Q;ENSG00000141380:ENST00000415083:exon6:c.G774A:p.Q258Q;ENSG00000141380:ENST00000269137:exon6:c.G774A:p.Q258Q;ENSG00000141380:ENST00000542420:exon6:c.G705A:p.Q235Q;	0.0037887995983375	0.064
18	23619255	T	A	18	26039291	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.A773T:p.Q258L;SS18:NM_005637:exon6:c.A773T:p.Q258L;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.A617T:p.Q206L;ENSG00000141380:ENST00000542743:exon7:c.A617T:p.Q206L;ENSG00000141380:ENST00000539849:exon5:c.A527T:p.Q176L;ENSG00000141380:ENST00000415083:exon6:c.A773T:p.Q258L;ENSG00000141380:ENST00000269137:exon6:c.A773T:p.Q258L;ENSG00000141380:ENST00000542420:exon6:c.A704T:p.Q235L;	0.905826957905533	0.55
18	23619255	T	C	18	26039291	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.A773G:p.Q258R;SS18:NM_005637:exon6:c.A773G:p.Q258R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.A617G:p.Q206R;ENSG00000141380:ENST00000542743:exon7:c.A617G:p.Q206R;ENSG00000141380:ENST00000539849:exon5:c.A527G:p.Q176R;ENSG00000141380:ENST00000415083:exon6:c.A773G:p.Q258R;ENSG00000141380:ENST00000269137:exon6:c.A773G:p.Q258R;ENSG00000141380:ENST00000542420:exon6:c.A704G:p.Q235R;	0.276412187710979	0.496
18	23619255	T	G	18	26039291	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.A773C:p.Q258P;SS18:NM_005637:exon6:c.A773C:p.Q258P;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.A617C:p.Q206P;ENSG00000141380:ENST00000542743:exon7:c.A617C:p.Q206P;ENSG00000141380:ENST00000539849:exon5:c.A527C:p.Q176P;ENSG00000141380:ENST00000415083:exon6:c.A773C:p.Q258P;ENSG00000141380:ENST00000269137:exon6:c.A773C:p.Q258P;ENSG00000141380:ENST00000542420:exon6:c.A704C:p.Q235P;	0.618991264647898	0.678
18	23619419	A	C	18	26039455	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon6:c.T609G:p.G203G;SS18:NM_005637:exon6:c.T609G:p.G203G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.T453G:p.G151G;ENSG00000141380:ENST00000542743:exon7:c.T453G:p.G151G;ENSG00000141380:ENST00000539849:exon5:c.T363G:p.G121G;ENSG00000141380:ENST00000415083:exon6:c.T609G:p.G203G;ENSG00000141380:ENST00000269137:exon6:c.T609G:p.G203G;ENSG00000141380:ENST00000542420:exon6:c.T540G:p.G180G;	9.87885040577437E-5	0.01
18	23619419	A	G	18	26039455	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon6:c.T609C:p.G203G;SS18:NM_005637:exon6:c.T609C:p.G203G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.T453C:p.G151G;ENSG00000141380:ENST00000542743:exon7:c.T453C:p.G151G;ENSG00000141380:ENST00000539849:exon5:c.T363C:p.G121G;ENSG00000141380:ENST00000415083:exon6:c.T609C:p.G203G;ENSG00000141380:ENST00000269137:exon6:c.T609C:p.G203G;ENSG00000141380:ENST00000542420:exon6:c.T540C:p.G180G;	1.97338692580616E-4	0.026
18	23619419	A	T	18	26039455	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon6:c.T609A:p.G203G;SS18:NM_005637:exon6:c.T609A:p.G203G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.T453A:p.G151G;ENSG00000141380:ENST00000542743:exon7:c.T453A:p.G151G;ENSG00000141380:ENST00000539849:exon5:c.T363A:p.G121G;ENSG00000141380:ENST00000415083:exon6:c.T609A:p.G203G;ENSG00000141380:ENST00000269137:exon6:c.T609A:p.G203G;ENSG00000141380:ENST00000542420:exon6:c.T540A:p.G180G;	1.42764571652264E-4	0.026
18	23619420	C	A	18	26039456	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.G608T:p.G203V;SS18:NM_005637:exon6:c.G608T:p.G203V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G452T:p.G151V;ENSG00000141380:ENST00000542743:exon7:c.G452T:p.G151V;ENSG00000141380:ENST00000539849:exon5:c.G362T:p.G121V;ENSG00000141380:ENST00000415083:exon6:c.G608T:p.G203V;ENSG00000141380:ENST00000269137:exon6:c.G608T:p.G203V;ENSG00000141380:ENST00000542420:exon6:c.G539T:p.G180V;	0.913947154511739	0.774
18	23619420	C	G	18	26039456	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.G608C:p.G203A;SS18:NM_005637:exon6:c.G608C:p.G203A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G452C:p.G151A;ENSG00000141380:ENST00000542743:exon7:c.G452C:p.G151A;ENSG00000141380:ENST00000539849:exon5:c.G362C:p.G121A;ENSG00000141380:ENST00000415083:exon6:c.G608C:p.G203A;ENSG00000141380:ENST00000269137:exon6:c.G608C:p.G203A;ENSG00000141380:ENST00000542420:exon6:c.G539C:p.G180A;	0.0288486978341238	0.348
18	23619420	C	T	18	26039456	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon6:c.G608A:p.G203D;SS18:NM_005637:exon6:c.G608A:p.G203D;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon7:c.G452A:p.G151D;ENSG00000141380:ENST00000542743:exon7:c.G452A:p.G151D;ENSG00000141380:ENST00000539849:exon5:c.G362A:p.G121D;ENSG00000141380:ENST00000415083:exon6:c.G608A:p.G203D;ENSG00000141380:ENST00000269137:exon6:c.G608A:p.G203D;ENSG00000141380:ENST00000542420:exon6:c.G539A:p.G180D;	0.406734657234893	0.378
18	23619421	C	A	18	26039457	y	y	splicing	SS18(NM_005637:exon7:c.608-1G>T;NM_001007559:exon7:c.608-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.608-1G>T;ENST00000542420:exon7:c.539-1G>T;ENST00000542743:exon8:c.452-1G>T;ENST00000579640:exon8:c.774-1G>T;ENST00000539849:exon6:c.362-1G>T;ENST00000269138:exon6:c.523-1G>T;ENST00000269137:exon7:c.608-1G>T;ENST00000545952:exon8:c.452-1G>T;ENST00000585121:exon8:c.727-1G>T;ENST00000539244:exon6:c.531-1G>T)	.	.	0.999985532734767	0.936
18	23619421	C	G	18	26039457	y	y	splicing	SS18(NM_005637:exon7:c.608-1G>C;NM_001007559:exon7:c.608-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.608-1G>C;ENST00000542420:exon7:c.539-1G>C;ENST00000542743:exon8:c.452-1G>C;ENST00000579640:exon8:c.774-1G>C;ENST00000539849:exon6:c.362-1G>C;ENST00000269138:exon6:c.523-1G>C;ENST00000269137:exon7:c.608-1G>C;ENST00000545952:exon8:c.452-1G>C;ENST00000585121:exon8:c.727-1G>C;ENST00000539244:exon6:c.531-1G>C)	.	.	0.999985532734767	0.936
18	23619421	C	T	18	26039457	y	y	splicing	SS18(NM_005637:exon7:c.608-1G>A;NM_001007559:exon7:c.608-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.608-1G>A;ENST00000542420:exon7:c.539-1G>A;ENST00000542743:exon8:c.452-1G>A;ENST00000579640:exon8:c.774-1G>A;ENST00000539849:exon6:c.362-1G>A;ENST00000269138:exon6:c.523-1G>A;ENST00000269137:exon7:c.608-1G>A;ENST00000545952:exon8:c.452-1G>A;ENST00000585121:exon8:c.727-1G>A;ENST00000539244:exon6:c.531-1G>A)	.	.	0.999985532734767	0.936
18	23619422	T	A	18	26039458	y	y	splicing	SS18(NM_005637:exon7:c.608-2A>T;NM_001007559:exon7:c.608-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.608-2A>T;ENST00000542420:exon7:c.539-2A>T;ENST00000542743:exon8:c.452-2A>T;ENST00000579640:exon8:c.774-2A>T;ENST00000539849:exon6:c.362-2A>T;ENST00000269138:exon6:c.523-2A>T;ENST00000269137:exon7:c.608-2A>T;ENST00000545952:exon8:c.452-2A>T;ENST00000585121:exon8:c.727-2A>T;ENST00000539244:exon6:c.531-2A>T)	.	.	0.999988247793601	0.928
18	23619422	T	C	18	26039458	y	y	splicing	SS18(NM_005637:exon7:c.608-2A>G;NM_001007559:exon7:c.608-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.608-2A>G;ENST00000542420:exon7:c.539-2A>G;ENST00000542743:exon8:c.452-2A>G;ENST00000579640:exon8:c.774-2A>G;ENST00000539849:exon6:c.362-2A>G;ENST00000269138:exon6:c.523-2A>G;ENST00000269137:exon7:c.608-2A>G;ENST00000545952:exon8:c.452-2A>G;ENST00000585121:exon8:c.727-2A>G;ENST00000539244:exon6:c.531-2A>G)	.	.	0.999988247793601	0.928
18	23619422	T	G	18	26039458	y	y	splicing	SS18(NM_005637:exon7:c.608-2A>C;NM_001007559:exon7:c.608-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon7:c.608-2A>C;ENST00000542420:exon7:c.539-2A>C;ENST00000542743:exon8:c.452-2A>C;ENST00000579640:exon8:c.774-2A>C;ENST00000539849:exon6:c.362-2A>C;ENST00000269138:exon6:c.523-2A>C;ENST00000269137:exon7:c.608-2A>C;ENST00000545952:exon8:c.452-2A>C;ENST00000585121:exon8:c.727-2A>C;ENST00000539244:exon6:c.531-2A>C)	.	.	0.999988247793601	0.928
18	23619423	G	A	18	26039459	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.95287613423703E-4	0.03
18	23619423	G	C	18	26039459	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999680466909489	0.926
18	23619423	G	T	18	26039459	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.171576927636657	0.388
18	23619424	A	C	18	26039460	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.2568519377515E-4	0.002
18	23619424	A	G	18	26039460	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.05155648186751E-4	0.002
18	23619424	A	T	18	26039460	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.7828209105779E-4	0.004
18	23619425	A	C	18	26039461	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.431263158907291	0.4
18	23619425	A	G	18	26039461	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00167844173694808	0.074
18	23619425	A	T	18	26039461	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.294905140628024	0.418
18	23619426	A	C	18	26039462	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.119090420891651	0.33
18	23619426	A	G	18	26039462	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.99773008745571E-5	0.008
18	23619426	A	T	18	26039462	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0752184361288369	0.262
18	23619427	C	A	18	26039463	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.55977506137348E-5	0.0
18	23619427	C	G	18	26039463	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.55977506137348E-5	0.0
18	23619427	C	T	18	26039463	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.53203711026641E-5	0.004
18	23619428	A	C	18	26039464	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.14505316957753E-4	0.22
18	23619428	A	G	18	26039464	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.00405532856065E-5	0.01
18	23619428	A	T	18	26039464	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999343606807178	0.934
18	23619429	A	C	18	26039465	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0772195068281887	0.392
18	23619429	A	G	18	26039465	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.45535399932853E-4	0.028
18	23619429	A	T	18	26039465	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0786311762065531	0.424
18	23619430	G	A	18	26039466	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.86901829295247E-5	0.0
18	23619430	G	C	18	26039466	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.58854788491168E-4	0.052
18	23619430	G	T	18	26039466	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.411285174212E-4	0.098
18	23619431	A	C	18	26039467	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.399789889103802	0.39
18	23619431	A	G	18	26039467	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00140890082544202	0.032
18	23619431	A	T	18	26039467	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.148606078416354	0.444
18	23619432	C	A	18	26039468	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.42838232057849E-4	0.01
18	23619432	C	G	18	26039468	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.27485429812905E-4	0.012
18	23619432	C	T	18	26039468	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.61041443615901E-4	0.028
18	23632580	T	A	18	26052616	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.78422694300027E-4	0.004
18	23632580	T	C	18	26052616	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.36700160382024E-5	0.0
18	23632580	T	G	18	26052616	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.15671981458715E-4	0.002
18	23632581	T	A	18	26052617	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.17130840110703E-4	0.004
18	23632581	T	C	18	26052617	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.71256236021876E-4	0.008
18	23632581	T	G	18	26052617	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.71909472930542E-4	0.008
18	23632582	A	C	18	26052618	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0043743905917654	0.204
18	23632582	A	G	18	26052618	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00354236968125947	0.242
18	23632582	A	T	18	26052618	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.011018239380375	0.24
18	23632583	G	A	18	26052619	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.29635462030984E-4	0.01
18	23632583	G	C	18	26052619	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.80940960789195E-5	0.042
18	23632583	G	T	18	26052619	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.96900119244017E-5	0.034
18	23632584	T	A	18	26052620	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.957976425501877	0.728
18	23632584	T	C	18	26052620	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.956955460021431	0.81
18	23632584	T	G	18	26052620	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.969642410703762	0.778
18	23632585	T	A	18	26052621	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999892615042083	0.92
18	23632585	T	C	18	26052621	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.997297008669379	0.928
18	23632585	T	G	18	26052621	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999632043454386	0.95
18	23632586	A	C	18	26052622	y	y	splicing	SS18(NM_005637:exon6:c.607+2T>G;NM_001007559:exon6:c.607+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.607+2T>G;ENST00000542420:exon6:c.538+2T>G;ENST00000542743:exon7:c.451+2T>G;ENST00000579640:exon7:c.773+2T>G;ENST00000539849:exon5:c.361+2T>G;ENST00000269138:exon5:c.522+2T>G;ENST00000269137:exon6:c.607+2T>G;ENST00000545952:exon7:c.451+2T>G;ENST00000585121:exon7:c.726+2T>G;ENST00000539244:exon5:c.530+2T>G)	.	.	0.999988247793601	0.93
18	23632586	A	G	18	26052622	y	y	splicing	SS18(NM_005637:exon6:c.607+2T>C;NM_001007559:exon6:c.607+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.607+2T>C;ENST00000542420:exon6:c.538+2T>C;ENST00000542743:exon7:c.451+2T>C;ENST00000579640:exon7:c.773+2T>C;ENST00000539849:exon5:c.361+2T>C;ENST00000269138:exon5:c.522+2T>C;ENST00000269137:exon6:c.607+2T>C;ENST00000545952:exon7:c.451+2T>C;ENST00000585121:exon7:c.726+2T>C;ENST00000539244:exon5:c.530+2T>C)	.	.	0.994877988051647	0.716
18	23632586	A	T	18	26052622	y	y	splicing	SS18(NM_005637:exon6:c.607+2T>A;NM_001007559:exon6:c.607+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.607+2T>A;ENST00000542420:exon6:c.538+2T>A;ENST00000542743:exon7:c.451+2T>A;ENST00000579640:exon7:c.773+2T>A;ENST00000539849:exon5:c.361+2T>A;ENST00000269138:exon5:c.522+2T>A;ENST00000269137:exon6:c.607+2T>A;ENST00000545952:exon7:c.451+2T>A;ENST00000585121:exon7:c.726+2T>A;ENST00000539244:exon5:c.530+2T>A)	.	.	0.999988247793601	0.93
18	23632587	C	A	18	26052623	y	y	splicing	SS18(NM_005637:exon6:c.607+1G>T;NM_001007559:exon6:c.607+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.607+1G>T;ENST00000542420:exon6:c.538+1G>T;ENST00000542743:exon7:c.451+1G>T;ENST00000579640:exon7:c.773+1G>T;ENST00000539849:exon5:c.361+1G>T;ENST00000269138:exon5:c.522+1G>T;ENST00000269137:exon6:c.607+1G>T;ENST00000545952:exon7:c.451+1G>T;ENST00000585121:exon7:c.726+1G>T;ENST00000539244:exon5:c.530+1G>T)	.	.	0.999990361384395	0.938
18	23632587	C	G	18	26052623	y	y	splicing	SS18(NM_005637:exon6:c.607+1G>C;NM_001007559:exon6:c.607+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.607+1G>C;ENST00000542420:exon6:c.538+1G>C;ENST00000542743:exon7:c.451+1G>C;ENST00000579640:exon7:c.773+1G>C;ENST00000539849:exon5:c.361+1G>C;ENST00000269138:exon5:c.522+1G>C;ENST00000269137:exon6:c.607+1G>C;ENST00000545952:exon7:c.451+1G>C;ENST00000585121:exon7:c.726+1G>C;ENST00000539244:exon5:c.530+1G>C)	.	.	0.999990361384395	0.938
18	23632587	C	T	18	26052623	y	y	splicing	SS18(NM_005637:exon6:c.607+1G>A;NM_001007559:exon6:c.607+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.607+1G>A;ENST00000542420:exon6:c.538+1G>A;ENST00000542743:exon7:c.451+1G>A;ENST00000579640:exon7:c.773+1G>A;ENST00000539849:exon5:c.361+1G>A;ENST00000269138:exon5:c.522+1G>A;ENST00000269137:exon6:c.607+1G>A;ENST00000545952:exon7:c.451+1G>A;ENST00000585121:exon7:c.726+1G>A;ENST00000539244:exon5:c.530+1G>A)	.	.	0.999990361384395	0.938
18	23632588	C	A	18	26052624	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.G607T:p.G203C;SS18:NM_005637:exon5:c.G607T:p.G203C;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.G451T:p.G151C;ENSG00000141380:ENST00000542743:exon6:c.G451T:p.G151C;ENSG00000141380:ENST00000539849:exon4:c.G361T:p.G121C;ENSG00000141380:ENST00000415083:exon5:c.G607T:p.G203C;ENSG00000141380:ENST00000269137:exon5:c.G607T:p.G203C;ENSG00000141380:ENST00000542420:exon5:c.G538T:p.G180C;	0.999965006914745	0.966
18	23632588	C	G	18	26052624	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.G607C:p.G203R;SS18:NM_005637:exon5:c.G607C:p.G203R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.G451C:p.G151R;ENSG00000141380:ENST00000542743:exon6:c.G451C:p.G151R;ENSG00000141380:ENST00000539849:exon4:c.G361C:p.G121R;ENSG00000141380:ENST00000415083:exon5:c.G607C:p.G203R;ENSG00000141380:ENST00000269137:exon5:c.G607C:p.G203R;ENSG00000141380:ENST00000542420:exon5:c.G538C:p.G180R;	0.99999170736122	0.964
18	23632588	C	T	18	26052624	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.G607A:p.G203S;SS18:NM_005637:exon5:c.G607A:p.G203S;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.G451A:p.G151S;ENSG00000141380:ENST00000542743:exon6:c.G451A:p.G151S;ENSG00000141380:ENST00000539849:exon4:c.G361A:p.G121S;ENSG00000141380:ENST00000415083:exon5:c.G607A:p.G203S;ENSG00000141380:ENST00000269137:exon5:c.G607A:p.G203S;ENSG00000141380:ENST00000542420:exon5:c.G538A:p.G180S;	0.999984550970123	0.998
18	23632589	T	A	18	26052625	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.A606T:p.Q202H;SS18:NM_005637:exon5:c.A606T:p.Q202H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.A450T:p.Q150H;ENSG00000141380:ENST00000542743:exon6:c.A450T:p.Q150H;ENSG00000141380:ENST00000539849:exon4:c.A360T:p.Q120H;ENSG00000141380:ENST00000415083:exon5:c.A606T:p.Q202H;ENSG00000141380:ENST00000269137:exon5:c.A606T:p.Q202H;ENSG00000141380:ENST00000542420:exon5:c.A537T:p.Q179H;	0.99808150789018	0.86
18	23632589	T	C	18	26052625	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon5:c.A606G:p.Q202Q;SS18:NM_005637:exon5:c.A606G:p.Q202Q;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.A450G:p.Q150Q;ENSG00000141380:ENST00000542743:exon6:c.A450G:p.Q150Q;ENSG00000141380:ENST00000539849:exon4:c.A360G:p.Q120Q;ENSG00000141380:ENST00000415083:exon5:c.A606G:p.Q202Q;ENSG00000141380:ENST00000269137:exon5:c.A606G:p.Q202Q;ENSG00000141380:ENST00000542420:exon5:c.A537G:p.Q179Q;	0.83052535193687	0.704
18	23632589	T	G	18	26052625	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.A606C:p.Q202H;SS18:NM_005637:exon5:c.A606C:p.Q202H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.A450C:p.Q150H;ENSG00000141380:ENST00000542743:exon6:c.A450C:p.Q150H;ENSG00000141380:ENST00000539849:exon4:c.A360C:p.Q120H;ENSG00000141380:ENST00000415083:exon5:c.A606C:p.Q202H;ENSG00000141380:ENST00000269137:exon5:c.A606C:p.Q202H;ENSG00000141380:ENST00000542420:exon5:c.A537C:p.Q179H;	0.908559568161917	0.752
18	23632590	T	A	18	26052626	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.A605T:p.Q202L;SS18:NM_005637:exon5:c.A605T:p.Q202L;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.A449T:p.Q150L;ENSG00000141380:ENST00000542743:exon6:c.A449T:p.Q150L;ENSG00000141380:ENST00000539849:exon4:c.A359T:p.Q120L;ENSG00000141380:ENST00000415083:exon5:c.A605T:p.Q202L;ENSG00000141380:ENST00000269137:exon5:c.A605T:p.Q202L;ENSG00000141380:ENST00000542420:exon5:c.A536T:p.Q179L;	0.958595707969348	0.708
18	23632590	T	C	18	26052626	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.A605G:p.Q202R;SS18:NM_005637:exon5:c.A605G:p.Q202R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.A449G:p.Q150R;ENSG00000141380:ENST00000542743:exon6:c.A449G:p.Q150R;ENSG00000141380:ENST00000539849:exon4:c.A359G:p.Q120R;ENSG00000141380:ENST00000415083:exon5:c.A605G:p.Q202R;ENSG00000141380:ENST00000269137:exon5:c.A605G:p.Q202R;ENSG00000141380:ENST00000542420:exon5:c.A536G:p.Q179R;	0.470691279968	0.464
18	23632590	T	G	18	26052626	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.A605C:p.Q202P;SS18:NM_005637:exon5:c.A605C:p.Q202P;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000545952:exon6:c.A449C:p.Q150P;ENSG00000141380:ENST00000542743:exon6:c.A449C:p.Q150P;ENSG00000141380:ENST00000539849:exon4:c.A359C:p.Q120P;ENSG00000141380:ENST00000415083:exon5:c.A605C:p.Q202P;ENSG00000141380:ENST00000269137:exon5:c.A605C:p.Q202P;ENSG00000141380:ENST00000542420:exon5:c.A536C:p.Q179P;	0.811204767834095	0.566
18	23632808	C	A	18	26052844	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon5:c.G387T:p.G129G;SS18:NM_005637:exon5:c.G387T:p.G129G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon5:c.G318T:p.G106G;ENSG00000141380:ENST00000579061:exon5:c.G318T:p.G106G;ENSG00000141380:ENST00000545952:exon6:c.G231T:p.G77G;ENSG00000141380:ENST00000542743:exon6:c.G231T:p.G77G;ENSG00000141380:ENST00000539849:exon4:c.G141T:p.G47G;ENSG00000141380:ENST00000415083:exon5:c.G387T:p.G129G;ENSG00000141380:ENST00000269137:exon5:c.G387T:p.G129G;ENSG00000141380:ENST00000542420:exon5:c.G318T:p.G106G;	2.05717235313755E-4	0.0
18	23632808	C	G	18	26052844	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon5:c.G387C:p.G129G;SS18:NM_005637:exon5:c.G387C:p.G129G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon5:c.G318C:p.G106G;ENSG00000141380:ENST00000579061:exon5:c.G318C:p.G106G;ENSG00000141380:ENST00000545952:exon6:c.G231C:p.G77G;ENSG00000141380:ENST00000542743:exon6:c.G231C:p.G77G;ENSG00000141380:ENST00000539849:exon4:c.G141C:p.G47G;ENSG00000141380:ENST00000415083:exon5:c.G387C:p.G129G;ENSG00000141380:ENST00000269137:exon5:c.G387C:p.G129G;ENSG00000141380:ENST00000542420:exon5:c.G318C:p.G106G;	1.4599907189695E-4	0.008
18	23632808	C	T	18	26052844	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon5:c.G387A:p.G129G;SS18:NM_005637:exon5:c.G387A:p.G129G;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon5:c.G318A:p.G106G;ENSG00000141380:ENST00000579061:exon5:c.G318A:p.G106G;ENSG00000141380:ENST00000545952:exon6:c.G231A:p.G77G;ENSG00000141380:ENST00000542743:exon6:c.G231A:p.G77G;ENSG00000141380:ENST00000539849:exon4:c.G141A:p.G47G;ENSG00000141380:ENST00000415083:exon5:c.G387A:p.G129G;ENSG00000141380:ENST00000269137:exon5:c.G387A:p.G129G;ENSG00000141380:ENST00000542420:exon5:c.G318A:p.G106G;	1.79921376305476E-4	0.006
18	23632809	C	A	18	26052845	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.G386T:p.G129V;SS18:NM_005637:exon5:c.G386T:p.G129V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon5:c.G317T:p.G106V;ENSG00000141380:ENST00000579061:exon5:c.G317T:p.G106V;ENSG00000141380:ENST00000545952:exon6:c.G230T:p.G77V;ENSG00000141380:ENST00000542743:exon6:c.G230T:p.G77V;ENSG00000141380:ENST00000539849:exon4:c.G140T:p.G47V;ENSG00000141380:ENST00000415083:exon5:c.G386T:p.G129V;ENSG00000141380:ENST00000269137:exon5:c.G386T:p.G129V;ENSG00000141380:ENST00000542420:exon5:c.G317T:p.G106V;	0.999798386255959	0.982
18	23632809	C	G	18	26052845	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.G386C:p.G129A;SS18:NM_005637:exon5:c.G386C:p.G129A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon5:c.G317C:p.G106A;ENSG00000141380:ENST00000579061:exon5:c.G317C:p.G106A;ENSG00000141380:ENST00000545952:exon6:c.G230C:p.G77A;ENSG00000141380:ENST00000542743:exon6:c.G230C:p.G77A;ENSG00000141380:ENST00000539849:exon4:c.G140C:p.G47A;ENSG00000141380:ENST00000415083:exon5:c.G386C:p.G129A;ENSG00000141380:ENST00000269137:exon5:c.G386C:p.G129A;ENSG00000141380:ENST00000542420:exon5:c.G317C:p.G106A;	0.999429674889906	0.962
18	23632809	C	T	18	26052845	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon5:c.G386A:p.G129E;SS18:NM_005637:exon5:c.G386A:p.G129E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon5:c.G317A:p.G106E;ENSG00000141380:ENST00000579061:exon5:c.G317A:p.G106E;ENSG00000141380:ENST00000545952:exon6:c.G230A:p.G77E;ENSG00000141380:ENST00000542743:exon6:c.G230A:p.G77E;ENSG00000141380:ENST00000539849:exon4:c.G140A:p.G47E;ENSG00000141380:ENST00000415083:exon5:c.G386A:p.G129E;ENSG00000141380:ENST00000269137:exon5:c.G386A:p.G129E;ENSG00000141380:ENST00000542420:exon5:c.G317A:p.G106E;	0.99967737146617	0.85
18	23632810	C	A	18	26052846	y	y	splicing	SS18(NM_005637:exon6:c.386-1G>T;NM_001007559:exon6:c.386-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.386-1G>T;ENST00000542420:exon6:c.317-1G>T;ENST00000542743:exon7:c.230-1G>T;ENST00000579640:exon7:c.552-1G>T;ENST00000539849:exon5:c.140-1G>T;ENST00000269138:exon5:c.301-1G>T;ENST00000269137:exon6:c.386-1G>T;ENST00000545952:exon7:c.230-1G>T;ENST00000585121:exon7:c.505-1G>T;ENST00000539244:exon5:c.309-1G>T;ENST00000578954:exon7:c.510-1G>T;ENST00000579061:exon6:c.317-1G>T;ENST00000577636:exon7:c.381-1G>T;ENST00000584083:exon6:c.317-1G>T;ENST00000578700:exon7:c.432-1G>T)	.	.	0.999990361384395	0.938
18	23632810	C	G	18	26052846	y	y	splicing	SS18(NM_005637:exon6:c.386-1G>C;NM_001007559:exon6:c.386-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.386-1G>C;ENST00000542420:exon6:c.317-1G>C;ENST00000542743:exon7:c.230-1G>C;ENST00000579640:exon7:c.552-1G>C;ENST00000539849:exon5:c.140-1G>C;ENST00000269138:exon5:c.301-1G>C;ENST00000269137:exon6:c.386-1G>C;ENST00000545952:exon7:c.230-1G>C;ENST00000585121:exon7:c.505-1G>C;ENST00000539244:exon5:c.309-1G>C;ENST00000578954:exon7:c.510-1G>C;ENST00000579061:exon6:c.317-1G>C;ENST00000577636:exon7:c.381-1G>C;ENST00000584083:exon6:c.317-1G>C;ENST00000578700:exon7:c.432-1G>C)	.	.	0.999990361384395	0.938
18	23632810	C	T	18	26052846	y	y	splicing	SS18(NM_005637:exon6:c.386-1G>A;NM_001007559:exon6:c.386-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.386-1G>A;ENST00000542420:exon6:c.317-1G>A;ENST00000542743:exon7:c.230-1G>A;ENST00000579640:exon7:c.552-1G>A;ENST00000539849:exon5:c.140-1G>A;ENST00000269138:exon5:c.301-1G>A;ENST00000269137:exon6:c.386-1G>A;ENST00000545952:exon7:c.230-1G>A;ENST00000585121:exon7:c.505-1G>A;ENST00000539244:exon5:c.309-1G>A;ENST00000578954:exon7:c.510-1G>A;ENST00000579061:exon6:c.317-1G>A;ENST00000577636:exon7:c.381-1G>A;ENST00000584083:exon6:c.317-1G>A;ENST00000578700:exon7:c.432-1G>A)	.	.	0.999990361384395	0.938
18	23632811	T	A	18	26052847	y	y	splicing	SS18(NM_005637:exon6:c.386-2A>T;NM_001007559:exon6:c.386-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.386-2A>T;ENST00000542420:exon6:c.317-2A>T;ENST00000542743:exon7:c.230-2A>T;ENST00000579640:exon7:c.552-2A>T;ENST00000539849:exon5:c.140-2A>T;ENST00000269138:exon5:c.301-2A>T;ENST00000269137:exon6:c.386-2A>T;ENST00000545952:exon7:c.230-2A>T;ENST00000585121:exon7:c.505-2A>T;ENST00000539244:exon5:c.309-2A>T;ENST00000578954:exon7:c.510-2A>T;ENST00000579061:exon6:c.317-2A>T;ENST00000577636:exon7:c.381-2A>T;ENST00000584083:exon6:c.317-2A>T;ENST00000578700:exon7:c.432-2A>T)	.	.	0.999988247793601	0.926
18	23632811	T	C	18	26052847	y	y	splicing	SS18(NM_005637:exon6:c.386-2A>G;NM_001007559:exon6:c.386-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.386-2A>G;ENST00000542420:exon6:c.317-2A>G;ENST00000542743:exon7:c.230-2A>G;ENST00000579640:exon7:c.552-2A>G;ENST00000539849:exon5:c.140-2A>G;ENST00000269138:exon5:c.301-2A>G;ENST00000269137:exon6:c.386-2A>G;ENST00000545952:exon7:c.230-2A>G;ENST00000585121:exon7:c.505-2A>G;ENST00000539244:exon5:c.309-2A>G;ENST00000578954:exon7:c.510-2A>G;ENST00000579061:exon6:c.317-2A>G;ENST00000577636:exon7:c.381-2A>G;ENST00000584083:exon6:c.317-2A>G;ENST00000578700:exon7:c.432-2A>G)	.	.	0.999988247793601	0.926
18	23632811	T	G	18	26052847	y	y	splicing	SS18(NM_005637:exon6:c.386-2A>C;NM_001007559:exon6:c.386-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon6:c.386-2A>C;ENST00000542420:exon6:c.317-2A>C;ENST00000542743:exon7:c.230-2A>C;ENST00000579640:exon7:c.552-2A>C;ENST00000539849:exon5:c.140-2A>C;ENST00000269138:exon5:c.301-2A>C;ENST00000269137:exon6:c.386-2A>C;ENST00000545952:exon7:c.230-2A>C;ENST00000585121:exon7:c.505-2A>C;ENST00000539244:exon5:c.309-2A>C;ENST00000578954:exon7:c.510-2A>C;ENST00000579061:exon6:c.317-2A>C;ENST00000577636:exon7:c.381-2A>C;ENST00000584083:exon6:c.317-2A>C;ENST00000578700:exon7:c.432-2A>C)	.	.	0.999988247793601	0.926
18	23632812	T	A	18	26052848	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00222557416558236	0.072
18	23632812	T	C	18	26052848	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.935917572834097	0.65
18	23632812	T	G	18	26052848	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.08485098972989E-4	0.044
18	23632813	T	A	18	26052849	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.24811061721367E-4	0.006
18	23632813	T	C	18	26052849	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00689374418771584	0.244
18	23632813	T	G	18	26052849	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.2999632069853E-4	0.018
18	23632814	G	A	18	26052850	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.26033798043557E-4	0.0
18	23632814	G	C	18	26052850	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0120568214400499	0.138
18	23632814	G	T	18	26052850	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0153245775980661	0.102
18	23632815	A	C	18	26052851	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.679765384696237	0.54
18	23632815	A	G	18	26052851	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0041829271538777	0.224
18	23632815	A	T	18	26052851	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.925326711349409	0.562
18	23632816	A	C	18	26052852	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.855844261953036	0.614
18	23632816	A	G	18	26052852	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.454399842757894	0.464
18	23632816	A	T	18	26052852	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.946144926304282	0.664
18	23632817	G	A	18	26052853	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00157565785551812	0.048
18	23632817	G	C	18	26052853	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0557671736929	0.144
18	23632817	G	T	18	26052853	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0366989715096005	0.192
18	23632818	A	C	18	26052854	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.971862353401949	0.564
18	23632818	A	G	18	26052854	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.563595173335264	0.446
18	23632818	A	T	18	26052854	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.972423769511452	0.584
18	23632819	A	C	18	26052855	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.038835821373195	0.178
18	23632819	A	G	18	26052855	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00541607048393153	0.13
18	23632819	A	T	18	26052855	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.126155281293626	0.23
18	23632820	A	C	18	26052856	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.983687722831304	0.698
18	23632820	A	G	18	26052856	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.96549250212198	0.592
18	23632820	A	T	18	26052856	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.990634100836856	0.744
18	23632821	A	C	18	26052857	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.979942911834835	0.604
18	23632821	A	G	18	26052857	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.612956164419351	0.53
18	23632821	A	T	18	26052857	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.964929249125547	0.604
18	23637545	A	C	18	26057581	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0122617419933037	0.03
18	23637545	A	G	18	26057581	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0147521827036193	0.026
18	23637545	A	T	18	26057581	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0166198105931856	0.078
18	23637546	A	C	18	26057582	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0199775011411057	0.094
18	23637546	A	G	18	26057582	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0195277427238102	0.094
18	23637546	A	T	18	26057582	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0233645821153248	0.162
18	23637547	A	C	18	26057583	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0552509515031761	0.248
18	23637547	A	G	18	26057583	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.122222037887021	0.442
18	23637547	A	T	18	26057583	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0668361655567899	0.366
18	23637548	C	A	18	26057584	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999904451116026	0.916
18	23637548	C	G	18	26057584	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999670467325748	0.828
18	23637548	C	T	18	26057584	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999953001530724	0.934
18	23637549	T	A	18	26057585	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.993440117028879	0.762
18	23637549	T	C	18	26057585	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.958348117634824	0.72
18	23637549	T	G	18	26057585	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.988798596073397	0.684
18	23637550	T	A	18	26057586	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999259919225679	0.97
18	23637550	T	C	18	26057586	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.819182524474052	0.45
18	23637550	T	G	18	26057586	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999534030649596	0.982
18	23637551	A	C	18	26057587	y	y	splicing	SS18(NM_005637:exon5:c.385+2T>G;NM_001007559:exon5:c.385+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.385+2T>G;ENST00000542420:exon5:c.316+2T>G;ENST00000542743:exon6:c.229+2T>G;ENST00000579640:exon6:c.551+2T>G;ENST00000539849:exon4:c.139+2T>G;ENST00000269138:exon4:c.300+2T>G;ENST00000269137:exon5:c.385+2T>G;ENST00000545952:exon6:c.229+2T>G;ENST00000585121:exon6:c.504+2T>G;ENST00000539244:exon4:c.308+2T>G;ENST00000578954:exon6:c.509+2T>G;ENST00000579061:exon5:c.316+2T>G;ENST00000577636:exon6:c.380+2T>G;ENST00000584083:exon5:c.316+2T>G;ENST00000578700:exon6:c.431+2T>G)	.	.	0.999988247793601	0.932
18	23637551	A	G	18	26057587	y	y	splicing	SS18(NM_005637:exon5:c.385+2T>C;NM_001007559:exon5:c.385+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.385+2T>C;ENST00000542420:exon5:c.316+2T>C;ENST00000542743:exon6:c.229+2T>C;ENST00000579640:exon6:c.551+2T>C;ENST00000539849:exon4:c.139+2T>C;ENST00000269138:exon4:c.300+2T>C;ENST00000269137:exon5:c.385+2T>C;ENST00000545952:exon6:c.229+2T>C;ENST00000585121:exon6:c.504+2T>C;ENST00000539244:exon4:c.308+2T>C;ENST00000578954:exon6:c.509+2T>C;ENST00000579061:exon5:c.316+2T>C;ENST00000577636:exon6:c.380+2T>C;ENST00000584083:exon5:c.316+2T>C;ENST00000578700:exon6:c.431+2T>C)	.	.	0.99340600729494	0.698
18	23637551	A	T	18	26057587	y	y	splicing	SS18(NM_005637:exon5:c.385+2T>A;NM_001007559:exon5:c.385+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.385+2T>A;ENST00000542420:exon5:c.316+2T>A;ENST00000542743:exon6:c.229+2T>A;ENST00000579640:exon6:c.551+2T>A;ENST00000539849:exon4:c.139+2T>A;ENST00000269138:exon4:c.300+2T>A;ENST00000269137:exon5:c.385+2T>A;ENST00000545952:exon6:c.229+2T>A;ENST00000585121:exon6:c.504+2T>A;ENST00000539244:exon4:c.308+2T>A;ENST00000578954:exon6:c.509+2T>A;ENST00000579061:exon5:c.316+2T>A;ENST00000577636:exon6:c.380+2T>A;ENST00000584083:exon5:c.316+2T>A;ENST00000578700:exon6:c.431+2T>A)	.	.	0.999988247793601	0.932
18	23637552	C	A	18	26057588	y	y	splicing	SS18(NM_005637:exon5:c.385+1G>T;NM_001007559:exon5:c.385+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.385+1G>T;ENST00000542420:exon5:c.316+1G>T;ENST00000542743:exon6:c.229+1G>T;ENST00000579640:exon6:c.551+1G>T;ENST00000539849:exon4:c.139+1G>T;ENST00000269138:exon4:c.300+1G>T;ENST00000269137:exon5:c.385+1G>T;ENST00000545952:exon6:c.229+1G>T;ENST00000585121:exon6:c.504+1G>T;ENST00000539244:exon4:c.308+1G>T;ENST00000578954:exon6:c.509+1G>T;ENST00000579061:exon5:c.316+1G>T;ENST00000577636:exon6:c.380+1G>T;ENST00000584083:exon5:c.316+1G>T;ENST00000578700:exon6:c.431+1G>T)	.	.	0.999990361384395	0.938
18	23637552	C	G	18	26057588	y	y	splicing	SS18(NM_005637:exon5:c.385+1G>C;NM_001007559:exon5:c.385+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.385+1G>C;ENST00000542420:exon5:c.316+1G>C;ENST00000542743:exon6:c.229+1G>C;ENST00000579640:exon6:c.551+1G>C;ENST00000539849:exon4:c.139+1G>C;ENST00000269138:exon4:c.300+1G>C;ENST00000269137:exon5:c.385+1G>C;ENST00000545952:exon6:c.229+1G>C;ENST00000585121:exon6:c.504+1G>C;ENST00000539244:exon4:c.308+1G>C;ENST00000578954:exon6:c.509+1G>C;ENST00000579061:exon5:c.316+1G>C;ENST00000577636:exon6:c.380+1G>C;ENST00000584083:exon5:c.316+1G>C;ENST00000578700:exon6:c.431+1G>C)	.	.	0.999990361384395	0.938
18	23637552	C	T	18	26057588	y	y	splicing	SS18(NM_005637:exon5:c.385+1G>A;NM_001007559:exon5:c.385+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.385+1G>A;ENST00000542420:exon5:c.316+1G>A;ENST00000542743:exon6:c.229+1G>A;ENST00000579640:exon6:c.551+1G>A;ENST00000539849:exon4:c.139+1G>A;ENST00000269138:exon4:c.300+1G>A;ENST00000269137:exon5:c.385+1G>A;ENST00000545952:exon6:c.229+1G>A;ENST00000585121:exon6:c.504+1G>A;ENST00000539244:exon4:c.308+1G>A;ENST00000578954:exon6:c.509+1G>A;ENST00000579061:exon5:c.316+1G>A;ENST00000577636:exon6:c.380+1G>A;ENST00000584083:exon5:c.316+1G>A;ENST00000578700:exon6:c.431+1G>A)	.	.	0.999990361384395	0.938
18	23637553	C	A	18	26057589	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.G385T:p.G129W;SS18:NM_005637:exon4:c.G385T:p.G129W;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.G316T:p.G106W;ENSG00000141380:ENST00000579061:exon4:c.G316T:p.G106W;ENSG00000141380:ENST00000545952:exon5:c.G229T:p.G77W;ENSG00000141380:ENST00000542743:exon5:c.G229T:p.G77W;ENSG00000141380:ENST00000539849:exon3:c.G139T:p.G47W;ENSG00000141380:ENST00000415083:exon4:c.G385T:p.G129W;ENSG00000141380:ENST00000269137:exon4:c.G385T:p.G129W;ENSG00000141380:ENST00000542420:exon4:c.G316T:p.G106W;	0.999673977014412	0.954
18	23637553	C	G	18	26057589	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.G385C:p.G129R;SS18:NM_005637:exon4:c.G385C:p.G129R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.G316C:p.G106R;ENSG00000141380:ENST00000579061:exon4:c.G316C:p.G106R;ENSG00000141380:ENST00000545952:exon5:c.G229C:p.G77R;ENSG00000141380:ENST00000542743:exon5:c.G229C:p.G77R;ENSG00000141380:ENST00000539849:exon3:c.G139C:p.G47R;ENSG00000141380:ENST00000415083:exon4:c.G385C:p.G129R;ENSG00000141380:ENST00000269137:exon4:c.G385C:p.G129R;ENSG00000141380:ENST00000542420:exon4:c.G316C:p.G106R;	0.999855003754192	0.96
18	23637553	C	T	18	26057589	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.G385A:p.G129R;SS18:NM_005637:exon4:c.G385A:p.G129R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.G316A:p.G106R;ENSG00000141380:ENST00000579061:exon4:c.G316A:p.G106R;ENSG00000141380:ENST00000545952:exon5:c.G229A:p.G77R;ENSG00000141380:ENST00000542743:exon5:c.G229A:p.G77R;ENSG00000141380:ENST00000539849:exon3:c.G139A:p.G47R;ENSG00000141380:ENST00000415083:exon4:c.G385A:p.G129R;ENSG00000141380:ENST00000269137:exon4:c.G385A:p.G129R;ENSG00000141380:ENST00000542420:exon4:c.G316A:p.G106R;	0.999773909520317	0.922
18	23637554	A	C	18	26057590	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon4:c.T384G:p.P128P;SS18:NM_005637:exon4:c.T384G:p.P128P;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.T315G:p.P105P;ENSG00000141380:ENST00000579061:exon4:c.T315G:p.P105P;ENSG00000141380:ENST00000545952:exon5:c.T228G:p.P76P;ENSG00000141380:ENST00000542743:exon5:c.T228G:p.P76P;ENSG00000141380:ENST00000539849:exon3:c.T138G:p.P46P;ENSG00000141380:ENST00000415083:exon4:c.T384G:p.P128P;ENSG00000141380:ENST00000269137:exon4:c.T384G:p.P128P;ENSG00000141380:ENST00000542420:exon4:c.T315G:p.P105P;	0.0059268024991335	0.044
18	23637554	A	G	18	26057590	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon4:c.T384C:p.P128P;SS18:NM_005637:exon4:c.T384C:p.P128P;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.T315C:p.P105P;ENSG00000141380:ENST00000579061:exon4:c.T315C:p.P105P;ENSG00000141380:ENST00000545952:exon5:c.T228C:p.P76P;ENSG00000141380:ENST00000542743:exon5:c.T228C:p.P76P;ENSG00000141380:ENST00000539849:exon3:c.T138C:p.P46P;ENSG00000141380:ENST00000415083:exon4:c.T384C:p.P128P;ENSG00000141380:ENST00000269137:exon4:c.T384C:p.P128P;ENSG00000141380:ENST00000542420:exon4:c.T315C:p.P105P;	0.00504092884746472	0.014
18	23637554	A	T	18	26057590	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon4:c.T384A:p.P128P;SS18:NM_005637:exon4:c.T384A:p.P128P;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.T315A:p.P105P;ENSG00000141380:ENST00000579061:exon4:c.T315A:p.P105P;ENSG00000141380:ENST00000545952:exon5:c.T228A:p.P76P;ENSG00000141380:ENST00000542743:exon5:c.T228A:p.P76P;ENSG00000141380:ENST00000539849:exon3:c.T138A:p.P46P;ENSG00000141380:ENST00000415083:exon4:c.T384A:p.P128P;ENSG00000141380:ENST00000269137:exon4:c.T384A:p.P128P;ENSG00000141380:ENST00000542420:exon4:c.T315A:p.P105P;	2.09607347259377E-4	0.112
18	23637555	G	A	18	26057591	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C383T:p.P128L;SS18:NM_005637:exon4:c.C383T:p.P128L;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C314T:p.P105L;ENSG00000141380:ENST00000579061:exon4:c.C314T:p.P105L;ENSG00000141380:ENST00000545952:exon5:c.C227T:p.P76L;ENSG00000141380:ENST00000542743:exon5:c.C227T:p.P76L;ENSG00000141380:ENST00000539849:exon3:c.C137T:p.P46L;ENSG00000141380:ENST00000415083:exon4:c.C383T:p.P128L;ENSG00000141380:ENST00000269137:exon4:c.C383T:p.P128L;ENSG00000141380:ENST00000542420:exon4:c.C314T:p.P105L;	0.995308107996442	0.556
18	23637555	G	C	18	26057591	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C383G:p.P128R;SS18:NM_005637:exon4:c.C383G:p.P128R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C314G:p.P105R;ENSG00000141380:ENST00000579061:exon4:c.C314G:p.P105R;ENSG00000141380:ENST00000545952:exon5:c.C227G:p.P76R;ENSG00000141380:ENST00000542743:exon5:c.C227G:p.P76R;ENSG00000141380:ENST00000539849:exon3:c.C137G:p.P46R;ENSG00000141380:ENST00000415083:exon4:c.C383G:p.P128R;ENSG00000141380:ENST00000269137:exon4:c.C383G:p.P128R;ENSG00000141380:ENST00000542420:exon4:c.C314G:p.P105R;	0.3218636939209	0.3
18	23637555	G	T	18	26057591	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C383A:p.P128H;SS18:NM_005637:exon4:c.C383A:p.P128H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C314A:p.P105H;ENSG00000141380:ENST00000579061:exon4:c.C314A:p.P105H;ENSG00000141380:ENST00000545952:exon5:c.C227A:p.P76H;ENSG00000141380:ENST00000542743:exon5:c.C227A:p.P76H;ENSG00000141380:ENST00000539849:exon3:c.C137A:p.P46H;ENSG00000141380:ENST00000415083:exon4:c.C383A:p.P128H;ENSG00000141380:ENST00000269137:exon4:c.C383A:p.P128H;ENSG00000141380:ENST00000542420:exon4:c.C314A:p.P105H;	0.788788210064065	0.588
18	23637705	G	A	18	26057741	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C233T:p.P78L;SS18:NM_005637:exon4:c.C233T:p.P78L;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C164T:p.P55L;ENSG00000141380:ENST00000579061:exon4:c.C164T:p.P55L;ENSG00000141380:ENST00000545952:exon5:c.C77T:p.P26L;ENSG00000141380:ENST00000269138:exon3:c.C148T:p.H50Y;ENSG00000141380:ENST00000542743:exon5:c.C77T:p.P26L;ENSG00000141380:ENST00000415083:exon4:c.C233T:p.P78L;ENSG00000141380:ENST00000269137:exon4:c.C233T:p.P78L;ENSG00000141380:ENST00000581021:exon4:c.C164T:p.P55L;ENSG00000141380:ENST00000542420:exon4:c.C164T:p.P55L;	0.0053276526923751	0.064
18	23637705	G	C	18	26057741	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C233G:p.P78R;SS18:NM_005637:exon4:c.C233G:p.P78R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C164G:p.P55R;ENSG00000141380:ENST00000579061:exon4:c.C164G:p.P55R;ENSG00000141380:ENST00000545952:exon5:c.C77G:p.P26R;ENSG00000141380:ENST00000269138:exon3:c.C148G:p.H50D;ENSG00000141380:ENST00000542743:exon5:c.C77G:p.P26R;ENSG00000141380:ENST00000415083:exon4:c.C233G:p.P78R;ENSG00000141380:ENST00000269137:exon4:c.C233G:p.P78R;ENSG00000141380:ENST00000581021:exon4:c.C164G:p.P55R;ENSG00000141380:ENST00000542420:exon4:c.C164G:p.P55R;	0.00554006311057851	0.062
18	23637705	G	T	18	26057741	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C233A:p.P78Q;SS18:NM_005637:exon4:c.C233A:p.P78Q;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C164A:p.P55Q;ENSG00000141380:ENST00000579061:exon4:c.C164A:p.P55Q;ENSG00000141380:ENST00000545952:exon5:c.C77A:p.P26Q;ENSG00000141380:ENST00000269138:exon3:c.C148A:p.H50N;ENSG00000141380:ENST00000542743:exon5:c.C77A:p.P26Q;ENSG00000141380:ENST00000415083:exon4:c.C233A:p.P78Q;ENSG00000141380:ENST00000269137:exon4:c.C233A:p.P78Q;ENSG00000141380:ENST00000581021:exon4:c.C164A:p.P55Q;ENSG00000141380:ENST00000542420:exon4:c.C164A:p.P55Q;	0.0137574448877648	0.08
18	23637706	G	A	18	26057742	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C232T:p.P78S;SS18:NM_005637:exon4:c.C232T:p.P78S;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C163T:p.P55S;ENSG00000141380:ENST00000579061:exon4:c.C163T:p.P55S;ENSG00000141380:ENST00000545952:exon5:c.C76T:p.P26S;ENSG00000141380:ENST00000542743:exon5:c.C76T:p.P26S;ENSG00000141380:ENST00000415083:exon4:c.C232T:p.P78S;ENSG00000141380:ENST00000269137:exon4:c.C232T:p.P78S;ENSG00000141380:ENST00000581021:exon4:c.C163T:p.P55S;ENSG00000141380:ENST00000542420:exon4:c.C163T:p.P55S;	0.931774933245309	0.76
18	23637706	G	C	18	26057742	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C232G:p.P78A;SS18:NM_005637:exon4:c.C232G:p.P78A;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C163G:p.P55A;ENSG00000141380:ENST00000579061:exon4:c.C163G:p.P55A;ENSG00000141380:ENST00000545952:exon5:c.C76G:p.P26A;ENSG00000141380:ENST00000269138:exon3:c.C147G:p.H49Q;ENSG00000141380:ENST00000542743:exon5:c.C76G:p.P26A;ENSG00000141380:ENST00000415083:exon4:c.C232G:p.P78A;ENSG00000141380:ENST00000269137:exon4:c.C232G:p.P78A;ENSG00000141380:ENST00000581021:exon4:c.C163G:p.P55A;ENSG00000141380:ENST00000542420:exon4:c.C163G:p.P55A;	0.214395977607498	0.25
18	23637706	G	T	18	26057742	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C232A:p.P78T;SS18:NM_005637:exon4:c.C232A:p.P78T;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon4:c.C163A:p.P55T;ENSG00000141380:ENST00000579061:exon4:c.C163A:p.P55T;ENSG00000141380:ENST00000545952:exon5:c.C76A:p.P26T;ENSG00000141380:ENST00000269138:exon3:c.C147A:p.H49Q;ENSG00000141380:ENST00000542743:exon5:c.C76A:p.P26T;ENSG00000141380:ENST00000415083:exon4:c.C232A:p.P78T;ENSG00000141380:ENST00000269137:exon4:c.C232A:p.P78T;ENSG00000141380:ENST00000581021:exon4:c.C163A:p.P55T;ENSG00000141380:ENST00000542420:exon4:c.C163A:p.P55T;	0.303124257435291	0.236
18	23637707	C	A	18	26057743	y	y	splicing	SS18(NM_005637:exon5:c.232-1G>T;NM_001007559:exon5:c.232-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.232-1G>T;ENST00000542420:exon5:c.163-1G>T;ENST00000542743:exon6:c.76-1G>T;ENST00000579640:exon6:c.398-1G>T;ENST00000269138:exon4:c.147-1G>T;ENST00000269137:exon5:c.232-1G>T;ENST00000545952:exon6:c.76-1G>T;ENST00000585121:exon6:c.351-1G>T;ENST00000539244:exon4:c.155-1G>T;ENST00000578954:exon6:c.356-1G>T;ENST00000579061:exon5:c.163-1G>T;ENST00000577636:exon6:c.227-1G>T;ENST00000584083:exon5:c.163-1G>T;ENST00000578700:exon6:c.278-1G>T;ENST00000582792:exon6:c.373-1G>T;ENST00000581021:exon5:c.163-1G>T;ENST00000577572:exon7:c.411-1G>T;ENST00000582448:exon7:c.465-1G>T;ENST00000581570:exon7:c.522-1G>T)	.	.	0.999990361384395	0.938
18	23637707	C	G	18	26057743	y	y	splicing	SS18(NM_005637:exon5:c.232-1G>C;NM_001007559:exon5:c.232-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.232-1G>C;ENST00000542420:exon5:c.163-1G>C;ENST00000542743:exon6:c.76-1G>C;ENST00000579640:exon6:c.398-1G>C;ENST00000269138:exon4:c.147-1G>C;ENST00000269137:exon5:c.232-1G>C;ENST00000545952:exon6:c.76-1G>C;ENST00000585121:exon6:c.351-1G>C;ENST00000539244:exon4:c.155-1G>C;ENST00000578954:exon6:c.356-1G>C;ENST00000579061:exon5:c.163-1G>C;ENST00000577636:exon6:c.227-1G>C;ENST00000584083:exon5:c.163-1G>C;ENST00000578700:exon6:c.278-1G>C;ENST00000582792:exon6:c.373-1G>C;ENST00000581021:exon5:c.163-1G>C;ENST00000577572:exon7:c.411-1G>C;ENST00000582448:exon7:c.465-1G>C;ENST00000581570:exon7:c.522-1G>C)	.	.	0.999990361384395	0.938
18	23637707	C	T	18	26057743	y	y	splicing	SS18(NM_005637:exon5:c.232-1G>A;NM_001007559:exon5:c.232-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.232-1G>A;ENST00000542420:exon5:c.163-1G>A;ENST00000542743:exon6:c.76-1G>A;ENST00000579640:exon6:c.398-1G>A;ENST00000269138:exon4:c.147-1G>A;ENST00000269137:exon5:c.232-1G>A;ENST00000545952:exon6:c.76-1G>A;ENST00000585121:exon6:c.351-1G>A;ENST00000539244:exon4:c.155-1G>A;ENST00000578954:exon6:c.356-1G>A;ENST00000579061:exon5:c.163-1G>A;ENST00000577636:exon6:c.227-1G>A;ENST00000584083:exon5:c.163-1G>A;ENST00000578700:exon6:c.278-1G>A;ENST00000582792:exon6:c.373-1G>A;ENST00000581021:exon5:c.163-1G>A;ENST00000577572:exon7:c.411-1G>A;ENST00000582448:exon7:c.465-1G>A;ENST00000581570:exon7:c.522-1G>A)	.	.	0.999990361384395	0.938
18	23637708	T	A	18	26057744	y	y	splicing	SS18(NM_005637:exon5:c.232-2A>T;NM_001007559:exon5:c.232-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.232-2A>T;ENST00000542420:exon5:c.163-2A>T;ENST00000542743:exon6:c.76-2A>T;ENST00000579640:exon6:c.398-2A>T;ENST00000269138:exon4:c.147-2A>T;ENST00000269137:exon5:c.232-2A>T;ENST00000545952:exon6:c.76-2A>T;ENST00000585121:exon6:c.351-2A>T;ENST00000539244:exon4:c.155-2A>T;ENST00000578954:exon6:c.356-2A>T;ENST00000579061:exon5:c.163-2A>T;ENST00000577636:exon6:c.227-2A>T;ENST00000584083:exon5:c.163-2A>T;ENST00000578700:exon6:c.278-2A>T;ENST00000582792:exon6:c.373-2A>T;ENST00000581021:exon5:c.163-2A>T;ENST00000577572:exon7:c.411-2A>T;ENST00000582448:exon7:c.465-2A>T;ENST00000581570:exon7:c.522-2A>T)	.	.	0.999988247793601	0.928
18	23637708	T	C	18	26057744	y	y	splicing	SS18(NM_005637:exon5:c.232-2A>G;NM_001007559:exon5:c.232-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.232-2A>G;ENST00000542420:exon5:c.163-2A>G;ENST00000542743:exon6:c.76-2A>G;ENST00000579640:exon6:c.398-2A>G;ENST00000269138:exon4:c.147-2A>G;ENST00000269137:exon5:c.232-2A>G;ENST00000545952:exon6:c.76-2A>G;ENST00000585121:exon6:c.351-2A>G;ENST00000539244:exon4:c.155-2A>G;ENST00000578954:exon6:c.356-2A>G;ENST00000579061:exon5:c.163-2A>G;ENST00000577636:exon6:c.227-2A>G;ENST00000584083:exon5:c.163-2A>G;ENST00000578700:exon6:c.278-2A>G;ENST00000582792:exon6:c.373-2A>G;ENST00000581021:exon5:c.163-2A>G;ENST00000577572:exon7:c.411-2A>G;ENST00000582448:exon7:c.465-2A>G;ENST00000581570:exon7:c.522-2A>G)	.	.	0.999988247793601	0.928
18	23637708	T	G	18	26057744	y	y	splicing	SS18(NM_005637:exon5:c.232-2A>C;NM_001007559:exon5:c.232-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon5:c.232-2A>C;ENST00000542420:exon5:c.163-2A>C;ENST00000542743:exon6:c.76-2A>C;ENST00000579640:exon6:c.398-2A>C;ENST00000269138:exon4:c.147-2A>C;ENST00000269137:exon5:c.232-2A>C;ENST00000545952:exon6:c.76-2A>C;ENST00000585121:exon6:c.351-2A>C;ENST00000539244:exon4:c.155-2A>C;ENST00000578954:exon6:c.356-2A>C;ENST00000579061:exon5:c.163-2A>C;ENST00000577636:exon6:c.227-2A>C;ENST00000584083:exon5:c.163-2A>C;ENST00000578700:exon6:c.278-2A>C;ENST00000582792:exon6:c.373-2A>C;ENST00000581021:exon5:c.163-2A>C;ENST00000577572:exon7:c.411-2A>C;ENST00000582448:exon7:c.465-2A>C;ENST00000581570:exon7:c.522-2A>C)	.	.	0.999988247793601	0.928
18	23637709	G	A	18	26057745	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00368039940069087	0.05
18	23637709	G	C	18	26057745	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999861463788113	0.968
18	23637709	G	T	18	26057745	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.918277479881451	0.702
18	23637710	A	C	18	26057746	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.93045765969183E-4	0.064
18	23637710	A	G	18	26057746	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.23791480898115E-4	0.038
18	23637710	A	T	18	26057746	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.5282185868944E-5	0.0
18	23637711	A	C	18	26057747	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.724343593647027	0.462
18	23637711	A	G	18	26057747	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0270681251565888	0.132
18	23637711	A	T	18	26057747	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.396794525661378	0.428
18	23637712	A	C	18	26057748	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.198765839329694	0.25
18	23637712	A	G	18	26057748	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00187662131552396	0.102
18	23637712	A	T	18	26057748	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0151293587803793	0.182
18	23637713	G	A	18	26057749	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00331025153477531	0.058
18	23637713	G	C	18	26057749	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.123041782219273	0.288
18	23637713	G	T	18	26057749	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.186319821043268	0.344
18	23637714	A	C	18	26057750	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0122204961700398	0.15
18	23637714	A	G	18	26057750	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.04392065060465E-4	0.008
18	23637714	A	T	18	26057750	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0236014168866161	0.132
18	23637715	A	C	18	26057751	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.328509944009105	0.318
18	23637715	A	G	18	26057751	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0447288374386473	0.116
18	23637715	A	T	18	26057751	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.308540665126047	0.382
18	23637716	G	A	18	26057752	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.47434006881253E-5	0.004
18	23637716	G	C	18	26057752	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00180712154465523	0.176
18	23637716	G	T	18	26057752	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0114769661939499	0.2
18	23637717	A	C	18	26057753	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.903338615322656	0.578
18	23637717	A	G	18	26057753	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0501346509868128	0.26
18	23637717	A	T	18	26057753	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.91586877232727	0.624
18	23637718	C	A	18	26057754	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00363151032585996	0.038
18	23637718	C	G	18	26057754	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00803211342887726	0.07
18	23637718	C	T	18	26057754	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00665337276752297	0.196
18	23648450	A	C	18	26068486	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.10275622159801E-5	0.0
18	23648450	A	G	18	26068486	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.10275622159801E-5	0.0
18	23648450	A	T	18	26068486	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.10275622159801E-5	0.0
18	23648451	A	C	18	26068487	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.82650647518878E-5	0.0
18	23648451	A	G	18	26068487	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.82650647518878E-5	0.0
18	23648451	A	T	18	26068487	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.82650647518878E-5	0.0
18	23648452	T	A	18	26068488	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.07620641825897E-5	0.004
18	23648452	T	C	18	26068488	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.99153316237132E-5	0.0
18	23648452	T	G	18	26068488	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.99153316237132E-5	0.0
18	23648453	A	C	18	26068489	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.2358802390823E-5	0.0
18	23648453	A	G	18	26068489	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.2358802390823E-5	0.0
18	23648453	A	T	18	26068489	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.2358802390823E-5	0.0
18	23648454	C	A	18	26068490	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.35379928190213E-5	0.0
18	23648454	C	G	18	26068490	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.35379928190213E-5	0.0
18	23648454	C	T	18	26068490	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.35379928190213E-5	0.0
18	23648455	A	C	18	26068491	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.2358802390823E-5	0.0
18	23648455	A	G	18	26068491	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.2358802390823E-5	0.0
18	23648455	A	T	18	26068491	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.2358802390823E-5	0.0
18	23648456	A	C	18	26068492	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.226+2T>G;ENST00000577572:exon6:c.410+2T>G)	.	.	1.10275622159801E-5	0.0
18	23648456	A	G	18	26068492	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.226+2T>C;ENST00000577572:exon6:c.410+2T>C)	.	.	1.10275622159801E-5	0.0
18	23648456	A	T	18	26068492	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.226+2T>A;ENST00000577572:exon6:c.410+2T>A)	.	.	1.10275622159801E-5	0.0
18	23648457	C	A	18	26068493	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.226+1G>T;ENST00000577572:exon6:c.410+1G>T)	.	.	1.8057869992506E-5	0.004
18	23648457	C	G	18	26068493	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.226+1G>C;ENST00000577572:exon6:c.410+1G>C)	.	.	1.8057869992506E-5	0.004
18	23648457	C	T	18	26068493	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.226+1G>A;ENST00000577572:exon6:c.410+1G>A)	.	.	1.8057869992506E-5	0.004
18	23648458	C	A	18	26068494	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.86431456331734E-5	0.0
18	23648458	C	G	18	26068494	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.86431456331734E-5	0.0
18	23648458	C	T	18	26068494	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.86431456331734E-5	0.0
18	23648459	T	A	18	26068495	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	3.29305728662496E-4	0.006
18	23648459	T	C	18	26068495	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.81202784363976E-4	0.012
18	23648459	T	G	18	26068495	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.81202784363976E-4	0.012
18	23648460	G	A	18	26068496	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	3.43341532993366E-5	0.022
18	23648460	G	C	18	26068496	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	3.43341532993366E-5	0.018
18	23648460	G	T	18	26068496	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	3.43341532993366E-5	0.018
18	23648520	A	C	18	26068556	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577636:exon4:c.T164G:p.V55G;	3.29305728662496E-4	0.002
18	23648520	A	G	18	26068556	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577636:exon4:c.T164C:p.V55A;	3.3613950990319E-4	0.0
18	23648520	A	T	18	26068556	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577636:exon4:c.T164A:p.V55E;	3.3613950990319E-4	0.0
18	23648521	C	A	18	26068557	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577636:exon4:c.G163T:p.V55L;	1.02337758398172E-4	0.004
18	23648521	C	G	18	26068557	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577636:exon4:c.G163C:p.V55L;	1.02337758398172E-4	0.0
18	23648521	C	T	18	26068557	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577636:exon4:c.G163A:p.V55M;	9.27237026149931E-5	0.0
18	23648522	C	A	18	26068558	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.163-1G>T;ENST00000577572:exon6:c.347-1G>T)	.	.	7.5364181533214E-5	0.002
18	23648522	C	G	18	26068558	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.163-1G>C;ENST00000577572:exon6:c.347-1G>C)	.	.	7.5364181533214E-5	0.0
18	23648522	C	T	18	26068558	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.163-1G>A;ENST00000577572:exon6:c.347-1G>A)	.	.	6.24453633365032E-5	0.0
18	23648523	T	A	18	26068559	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.163-2A>T;ENST00000577572:exon6:c.347-2A>T)	.	.	0.00130043373466676	0.004
18	23648523	T	C	18	26068559	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.163-2A>G;ENST00000577572:exon6:c.347-2A>G)	.	.	7.21677783640596E-4	0.0
18	23648523	T	G	18	26068559	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000577636:exon5:c.163-2A>C;ENST00000577572:exon6:c.347-2A>C)	.	.	7.21677783640596E-4	0.0
18	23648524	G	A	18	26068560	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.86431456331734E-5	0.0
18	23648524	G	C	18	26068560	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.86431456331734E-5	0.0
18	23648524	G	T	18	26068560	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.86431456331734E-5	0.0
18	23648525	T	A	18	26068561	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.78205327723092E-5	0.004
18	23648525	T	C	18	26068561	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.31929338280547E-5	0.002
18	23648525	T	G	18	26068561	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.31929338280547E-5	0.002
18	23648526	A	C	18	26068562	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.81202784363976E-4	0.002
18	23648526	A	G	18	26068562	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.81202784363976E-4	0.002
18	23648526	A	T	18	26068562	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.29305728662496E-4	0.008
18	23648527	A	C	18	26068563	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.95623839174604E-5	0.006
18	23648527	A	G	18	26068563	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.95623839174604E-5	0.006
18	23648527	A	T	18	26068563	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.95623839174604E-5	0.04
18	23648528	A	C	18	26068564	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.08699411951749E-4	0.022
18	23648528	A	G	18	26068564	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.08699411951749E-4	0.016
18	23648528	A	T	18	26068564	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.12885952612513E-5	0.0
18	23648529	A	C	18	26068565	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.34022458172726E-4	0.016
18	23648529	A	G	18	26068565	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.7921214257142E-4	0.026
18	23648529	A	T	18	26068565	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.34022458172726E-4	0.002
18	23648530	A	C	18	26068566	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.29305728662496E-4	0.002
18	23648530	A	G	18	26068566	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.29305728662496E-4	0.002
18	23648530	A	T	18	26068566	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.29305728662496E-4	0.002
18	23648531	G	A	18	26068567	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.78864525412067E-5	0.0
18	23648531	G	C	18	26068567	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.0
18	23648531	G	T	18	26068567	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.0
18	23648532	G	A	18	26068568	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.65388135286213E-5	0.016
18	23648532	G	C	18	26068568	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.71811775086873E-5	0.008
18	23648532	G	T	18	26068568	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.71811775086873E-5	0.002
18	23648533	A	C	18	26068569	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.49701211621195E-5	0.004
18	23648533	A	G	18	26068569	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.49701211621195E-5	0.004
18	23648533	A	T	18	26068569	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.48216276349223E-5	0.006
18	23658032	A	C	18	26078068	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.35501120048874E-4	0.014
18	23658032	A	G	18	26078068	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.85630555044981E-5	0.01
18	23658032	A	T	18	26078068	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.62185325146182E-4	0.012
18	23658033	T	A	18	26078069	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0281031458629702	0.088
18	23658033	T	C	18	26078069	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00908067030790134	0.13
18	23658033	T	G	18	26078069	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00908067030790134	0.128
18	23658034	A	C	18	26078070	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999202174231727	0.924
18	23658034	A	G	18	26078070	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99757794324889	0.922
18	23658034	A	T	18	26078070	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99953462918344	0.822
18	23658035	C	A	18	26078071	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999981093999412	0.962
18	23658035	C	G	18	26078071	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999981093999412	0.998
18	23658035	C	T	18	26078071	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999983555760972	0.98
18	23658036	T	A	18	26078072	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999618748505656	0.956
18	23658036	T	C	18	26078072	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999546767904304	0.968
18	23658036	T	G	18	26078072	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999734978433403	0.934
18	23658037	T	A	18	26078073	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999887452593024	0.974
18	23658037	T	C	18	26078073	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.74587084839547	0.474
18	23658037	T	G	18	26078073	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999887452593024	0.944
18	23658038	A	C	18	26078074	y	y	splicing	SS18(NM_005637:exon4:c.231+2T>G;NM_001007559:exon4:c.231+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.231+2T>G;ENST00000542420:exon4:c.162+2T>G;ENST00000542743:exon5:c.75+2T>G;ENST00000579640:exon5:c.397+2T>G;ENST00000269137:exon4:c.231+2T>G;ENST00000545952:exon5:c.75+2T>G;ENST00000585121:exon5:c.350+2T>G;ENST00000539244:exon3:c.154+2T>G;ENST00000578954:exon5:c.355+2T>G;ENST00000579061:exon4:c.162+2T>G;ENST00000577636:exon4:c.162+2T>G;ENST00000584083:exon4:c.162+2T>G;ENST00000578700:exon5:c.277+2T>G;ENST00000582792:exon5:c.372+2T>G;ENST00000581021:exon4:c.162+2T>G;ENST00000577572:exon5:c.346+2T>G;ENST00000582448:exon6:c.464+2T>G;ENST00000581570:exon6:c.521+2T>G)	.	.	0.999988247793601	0.93
18	23658038	A	G	18	26078074	y	y	splicing	SS18(NM_005637:exon4:c.231+2T>C;NM_001007559:exon4:c.231+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.231+2T>C;ENST00000542420:exon4:c.162+2T>C;ENST00000542743:exon5:c.75+2T>C;ENST00000579640:exon5:c.397+2T>C;ENST00000269137:exon4:c.231+2T>C;ENST00000545952:exon5:c.75+2T>C;ENST00000585121:exon5:c.350+2T>C;ENST00000539244:exon3:c.154+2T>C;ENST00000578954:exon5:c.355+2T>C;ENST00000579061:exon4:c.162+2T>C;ENST00000577636:exon4:c.162+2T>C;ENST00000584083:exon4:c.162+2T>C;ENST00000578700:exon5:c.277+2T>C;ENST00000582792:exon5:c.372+2T>C;ENST00000581021:exon4:c.162+2T>C;ENST00000577572:exon5:c.346+2T>C;ENST00000582448:exon6:c.464+2T>C;ENST00000581570:exon6:c.521+2T>C)	.	.	0.99340600729494	0.688
18	23658038	A	T	18	26078074	y	y	splicing	SS18(NM_005637:exon4:c.231+2T>A;NM_001007559:exon4:c.231+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.231+2T>A;ENST00000542420:exon4:c.162+2T>A;ENST00000542743:exon5:c.75+2T>A;ENST00000579640:exon5:c.397+2T>A;ENST00000269137:exon4:c.231+2T>A;ENST00000545952:exon5:c.75+2T>A;ENST00000585121:exon5:c.350+2T>A;ENST00000539244:exon3:c.154+2T>A;ENST00000578954:exon5:c.355+2T>A;ENST00000579061:exon4:c.162+2T>A;ENST00000577636:exon4:c.162+2T>A;ENST00000584083:exon4:c.162+2T>A;ENST00000578700:exon5:c.277+2T>A;ENST00000582792:exon5:c.372+2T>A;ENST00000581021:exon4:c.162+2T>A;ENST00000577572:exon5:c.346+2T>A;ENST00000582448:exon6:c.464+2T>A;ENST00000581570:exon6:c.521+2T>A)	.	.	0.999988247793601	0.93
18	23658039	C	A	18	26078075	y	y	splicing	SS18(NM_005637:exon4:c.231+1G>T;NM_001007559:exon4:c.231+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.231+1G>T;ENST00000542420:exon4:c.162+1G>T;ENST00000542743:exon5:c.75+1G>T;ENST00000579640:exon5:c.397+1G>T;ENST00000269137:exon4:c.231+1G>T;ENST00000545952:exon5:c.75+1G>T;ENST00000585121:exon5:c.350+1G>T;ENST00000539244:exon3:c.154+1G>T;ENST00000578954:exon5:c.355+1G>T;ENST00000579061:exon4:c.162+1G>T;ENST00000577636:exon4:c.162+1G>T;ENST00000584083:exon4:c.162+1G>T;ENST00000578700:exon5:c.277+1G>T;ENST00000582792:exon5:c.372+1G>T;ENST00000581021:exon4:c.162+1G>T;ENST00000577572:exon5:c.346+1G>T;ENST00000582448:exon6:c.464+1G>T;ENST00000581570:exon6:c.521+1G>T)	.	.	0.999990361384395	0.938
18	23658039	C	G	18	26078075	y	y	splicing	SS18(NM_005637:exon4:c.231+1G>C;NM_001007559:exon4:c.231+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.231+1G>C;ENST00000542420:exon4:c.162+1G>C;ENST00000542743:exon5:c.75+1G>C;ENST00000579640:exon5:c.397+1G>C;ENST00000269137:exon4:c.231+1G>C;ENST00000545952:exon5:c.75+1G>C;ENST00000585121:exon5:c.350+1G>C;ENST00000539244:exon3:c.154+1G>C;ENST00000578954:exon5:c.355+1G>C;ENST00000579061:exon4:c.162+1G>C;ENST00000577636:exon4:c.162+1G>C;ENST00000584083:exon4:c.162+1G>C;ENST00000578700:exon5:c.277+1G>C;ENST00000582792:exon5:c.372+1G>C;ENST00000581021:exon4:c.162+1G>C;ENST00000577572:exon5:c.346+1G>C;ENST00000582448:exon6:c.464+1G>C;ENST00000581570:exon6:c.521+1G>C)	.	.	0.999990361384395	0.938
18	23658039	C	T	18	26078075	y	y	splicing	SS18(NM_005637:exon4:c.231+1G>A;NM_001007559:exon4:c.231+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.231+1G>A;ENST00000542420:exon4:c.162+1G>A;ENST00000542743:exon5:c.75+1G>A;ENST00000579640:exon5:c.397+1G>A;ENST00000269137:exon4:c.231+1G>A;ENST00000545952:exon5:c.75+1G>A;ENST00000585121:exon5:c.350+1G>A;ENST00000539244:exon3:c.154+1G>A;ENST00000578954:exon5:c.355+1G>A;ENST00000579061:exon4:c.162+1G>A;ENST00000577636:exon4:c.162+1G>A;ENST00000584083:exon4:c.162+1G>A;ENST00000578700:exon5:c.277+1G>A;ENST00000582792:exon5:c.372+1G>A;ENST00000581021:exon4:c.162+1G>A;ENST00000577572:exon5:c.346+1G>A;ENST00000582448:exon6:c.464+1G>A;ENST00000581570:exon6:c.521+1G>A)	.	.	0.999990361384395	0.938
18	23658040	T	A	18	26078076	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon3:c.A231T:p.A77A;SS18:NM_005637:exon3:c.A231T:p.A77A;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.A162T:p.A54A;ENSG00000141380:ENST00000579061:exon3:c.A162T:p.A54A;ENSG00000141380:ENST00000545952:exon4:c.A75T:p.A25A;ENSG00000141380:ENST00000542743:exon4:c.A75T:p.A25A;ENSG00000141380:ENST00000415083:exon3:c.A231T:p.A77A;ENSG00000141380:ENST00000577636:exon3:c.A162T:p.A54A;ENSG00000141380:ENST00000269137:exon3:c.A231T:p.A77A;ENSG00000141380:ENST00000581021:exon3:c.A162T:p.A54A;ENSG00000141380:ENST00000542420:exon3:c.A162T:p.A54A;	3.14703440778428E-4	0.08
18	23658040	T	C	18	26078076	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon3:c.A231G:p.A77A;SS18:NM_005637:exon3:c.A231G:p.A77A;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.A162G:p.A54A;ENSG00000141380:ENST00000579061:exon3:c.A162G:p.A54A;ENSG00000141380:ENST00000545952:exon4:c.A75G:p.A25A;ENSG00000141380:ENST00000542743:exon4:c.A75G:p.A25A;ENSG00000141380:ENST00000415083:exon3:c.A231G:p.A77A;ENSG00000141380:ENST00000577636:exon3:c.A162G:p.A54A;ENSG00000141380:ENST00000269137:exon3:c.A231G:p.A77A;ENSG00000141380:ENST00000581021:exon3:c.A162G:p.A54A;ENSG00000141380:ENST00000542420:exon3:c.A162G:p.A54A;	1.03000573631199E-4	0.044
18	23658040	T	G	18	26078076	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon3:c.A231C:p.A77A;SS18:NM_005637:exon3:c.A231C:p.A77A;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.A162C:p.A54A;ENSG00000141380:ENST00000579061:exon3:c.A162C:p.A54A;ENSG00000141380:ENST00000545952:exon4:c.A75C:p.A25A;ENSG00000141380:ENST00000542743:exon4:c.A75C:p.A25A;ENSG00000141380:ENST00000415083:exon3:c.A231C:p.A77A;ENSG00000141380:ENST00000577636:exon3:c.A162C:p.A54A;ENSG00000141380:ENST00000269137:exon3:c.A231C:p.A77A;ENSG00000141380:ENST00000581021:exon3:c.A162C:p.A54A;ENSG00000141380:ENST00000542420:exon3:c.A162C:p.A54A;	4.07197109276516E-4	0.03
18	23658041	G	A	18	26078077	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.C230T:p.A77V;SS18:NM_005637:exon3:c.C230T:p.A77V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.C161T:p.A54V;ENSG00000141380:ENST00000579061:exon3:c.C161T:p.A54V;ENSG00000141380:ENST00000545952:exon4:c.C74T:p.A25V;ENSG00000141380:ENST00000542743:exon4:c.C74T:p.A25V;ENSG00000141380:ENST00000415083:exon3:c.C230T:p.A77V;ENSG00000141380:ENST00000577636:exon3:c.C161T:p.A54V;ENSG00000141380:ENST00000269137:exon3:c.C230T:p.A77V;ENSG00000141380:ENST00000581021:exon3:c.C161T:p.A54V;ENSG00000141380:ENST00000542420:exon3:c.C161T:p.A54V;	0.991215236729799	0.836
18	23658041	G	C	18	26078077	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.C230G:p.A77G;SS18:NM_005637:exon3:c.C230G:p.A77G;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.C161G:p.A54G;ENSG00000141380:ENST00000579061:exon3:c.C161G:p.A54G;ENSG00000141380:ENST00000545952:exon4:c.C74G:p.A25G;ENSG00000141380:ENST00000542743:exon4:c.C74G:p.A25G;ENSG00000141380:ENST00000415083:exon3:c.C230G:p.A77G;ENSG00000141380:ENST00000577636:exon3:c.C161G:p.A54G;ENSG00000141380:ENST00000269137:exon3:c.C230G:p.A77G;ENSG00000141380:ENST00000581021:exon3:c.C161G:p.A54G;ENSG00000141380:ENST00000542420:exon3:c.C161G:p.A54G;	0.982066010200614	0.852
18	23658041	G	T	18	26078077	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.C230A:p.A77E;SS18:NM_005637:exon3:c.C230A:p.A77E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.C161A:p.A54E;ENSG00000141380:ENST00000579061:exon3:c.C161A:p.A54E;ENSG00000141380:ENST00000545952:exon4:c.C74A:p.A25E;ENSG00000141380:ENST00000542743:exon4:c.C74A:p.A25E;ENSG00000141380:ENST00000415083:exon3:c.C230A:p.A77E;ENSG00000141380:ENST00000577636:exon3:c.C161A:p.A54E;ENSG00000141380:ENST00000269137:exon3:c.C230A:p.A77E;ENSG00000141380:ENST00000581021:exon3:c.C161A:p.A54E;ENSG00000141380:ENST00000542420:exon3:c.C161A:p.A54E;	0.962072235837158	0.684
18	23658042	C	A	18	26078078	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.G229T:p.A77S;SS18:NM_005637:exon3:c.G229T:p.A77S;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.G160T:p.A54S;ENSG00000141380:ENST00000579061:exon3:c.G160T:p.A54S;ENSG00000141380:ENST00000545952:exon4:c.G73T:p.A25S;ENSG00000141380:ENST00000542743:exon4:c.G73T:p.A25S;ENSG00000141380:ENST00000415083:exon3:c.G229T:p.A77S;ENSG00000141380:ENST00000577636:exon3:c.G160T:p.A54S;ENSG00000141380:ENST00000269137:exon3:c.G229T:p.A77S;ENSG00000141380:ENST00000581021:exon3:c.G160T:p.A54S;ENSG00000141380:ENST00000542420:exon3:c.G160T:p.A54S;	0.964535192881094	0.75
18	23658042	C	G	18	26078078	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.G229C:p.A77P;SS18:NM_005637:exon3:c.G229C:p.A77P;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.G160C:p.A54P;ENSG00000141380:ENST00000579061:exon3:c.G160C:p.A54P;ENSG00000141380:ENST00000545952:exon4:c.G73C:p.A25P;ENSG00000141380:ENST00000542743:exon4:c.G73C:p.A25P;ENSG00000141380:ENST00000415083:exon3:c.G229C:p.A77P;ENSG00000141380:ENST00000577636:exon3:c.G160C:p.A54P;ENSG00000141380:ENST00000269137:exon3:c.G229C:p.A77P;ENSG00000141380:ENST00000581021:exon3:c.G160C:p.A54P;ENSG00000141380:ENST00000542420:exon3:c.G160C:p.A54P;	0.708904086821924	0.642
18	23658042	C	T	18	26078078	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.G229A:p.A77T;SS18:NM_005637:exon3:c.G229A:p.A77T;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.G160A:p.A54T;ENSG00000141380:ENST00000579061:exon3:c.G160A:p.A54T;ENSG00000141380:ENST00000545952:exon4:c.G73A:p.A25T;ENSG00000141380:ENST00000542743:exon4:c.G73A:p.A25T;ENSG00000141380:ENST00000415083:exon3:c.G229A:p.A77T;ENSG00000141380:ENST00000577636:exon3:c.G160A:p.A54T;ENSG00000141380:ENST00000269137:exon3:c.G229A:p.A77T;ENSG00000141380:ENST00000581021:exon3:c.G160A:p.A54T;ENSG00000141380:ENST00000542420:exon3:c.G160A:p.A54T;	0.947409330881739	0.72
18	23658123	A	C	18	26078159	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.T148G:p.Y50D;SS18:NM_005637:exon3:c.T148G:p.Y50D;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.T79G:p.Y27D;ENSG00000141380:ENST00000579061:exon3:c.T79G:p.Y27D;ENSG00000141380:ENST00000415083:exon3:c.T148G:p.Y50D;ENSG00000141380:ENST00000577636:exon3:c.T79G:p.Y27D;ENSG00000141380:ENST00000269137:exon3:c.T148G:p.Y50D;ENSG00000141380:ENST00000581021:exon3:c.T79G:p.Y27D;ENSG00000141380:ENST00000539244:exon2:c.T71G:p.V24G;ENSG00000141380:ENST00000542420:exon3:c.T79G:p.Y27D;	0.0673862506566767	0.292
18	23658123	A	G	18	26078159	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.T148C:p.Y50H;SS18:NM_005637:exon3:c.T148C:p.Y50H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.T79C:p.Y27H;ENSG00000141380:ENST00000579061:exon3:c.T79C:p.Y27H;ENSG00000141380:ENST00000415083:exon3:c.T148C:p.Y50H;ENSG00000141380:ENST00000577636:exon3:c.T79C:p.Y27H;ENSG00000141380:ENST00000269137:exon3:c.T148C:p.Y50H;ENSG00000141380:ENST00000581021:exon3:c.T79C:p.Y27H;ENSG00000141380:ENST00000539244:exon2:c.T71C:p.V24A;ENSG00000141380:ENST00000542420:exon3:c.T79C:p.Y27H;	0.217122877625301	0.358
18	23658123	A	T	18	26078159	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.T148A:p.Y50N;SS18:NM_005637:exon3:c.T148A:p.Y50N;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.T79A:p.Y27N;ENSG00000141380:ENST00000579061:exon3:c.T79A:p.Y27N;ENSG00000141380:ENST00000415083:exon3:c.T148A:p.Y50N;ENSG00000141380:ENST00000577636:exon3:c.T79A:p.Y27N;ENSG00000141380:ENST00000269137:exon3:c.T148A:p.Y50N;ENSG00000141380:ENST00000581021:exon3:c.T79A:p.Y27N;ENSG00000141380:ENST00000539244:exon2:c.T71A:p.V24E;ENSG00000141380:ENST00000542420:exon3:c.T79A:p.Y27N;	0.114256616857728	0.378
18	23658124	C	A	18	26078160	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.G147T:p.Q49H;SS18:NM_005637:exon3:c.G147T:p.Q49H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.G78T:p.Q26H;ENSG00000141380:ENST00000579061:exon3:c.G78T:p.Q26H;ENSG00000141380:ENST00000415083:exon3:c.G147T:p.Q49H;ENSG00000141380:ENST00000577636:exon3:c.G78T:p.Q26H;ENSG00000141380:ENST00000269137:exon3:c.G147T:p.Q49H;ENSG00000141380:ENST00000581021:exon3:c.G78T:p.Q26H;ENSG00000141380:ENST00000539244:exon2:c.G70T:p.V24L;ENSG00000141380:ENST00000542420:exon3:c.G78T:p.Q26H;	0.964046075793509	0.688
18	23658124	C	G	18	26078160	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon3:c.G147C:p.Q49H;SS18:NM_005637:exon3:c.G147C:p.Q49H;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon3:c.G78C:p.Q26H;ENSG00000141380:ENST00000579061:exon3:c.G78C:p.Q26H;ENSG00000141380:ENST00000415083:exon3:c.G147C:p.Q49H;ENSG00000141380:ENST00000577636:exon3:c.G78C:p.Q26H;ENSG00000141380:ENST00000269137:exon3:c.G147C:p.Q49H;ENSG00000141380:ENST00000581021:exon3:c.G78C:p.Q26H;ENSG00000141380:ENST00000539244:exon2:c.G70C:p.V24L;ENSG00000141380:ENST00000542420:exon3:c.G78C:p.Q26H;	0.937804351174408	0.59
18	23658124	C	T	18	26078160	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon3:c.G147A:p.Q49Q;SS18:NM_005637:exon3:c.G147A:p.Q49Q;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000539244:exon2:c.G70A:p.V24I;	0.791466345715883	0.648
18	23658125	C	A	18	26078161	y	y	splicing	SS18(NM_005637:exon4:c.147-1G>T;NM_001007559:exon4:c.147-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.147-1G>T;ENST00000542420:exon4:c.78-1G>T;ENST00000579640:exon5:c.313-1G>T;ENST00000269137:exon4:c.147-1G>T;ENST00000585121:exon5:c.266-1G>T;ENST00000539244:exon3:c.70-1G>T;ENST00000578954:exon5:c.271-1G>T;ENST00000579061:exon4:c.78-1G>T;ENST00000577636:exon4:c.78-1G>T;ENST00000584083:exon4:c.78-1G>T;ENST00000578700:exon5:c.193-1G>T;ENST00000582792:exon5:c.288-1G>T;ENST00000581021:exon4:c.78-1G>T;ENST00000577572:exon5:c.262-1G>T;ENST00000582448:exon6:c.380-1G>T;ENST00000581570:exon6:c.437-1G>T;ENST00000580751:exon6:c.407-1G>T;ENST00000580642:exon6:c.432-1G>T)	.	.	0.999990361384395	0.938
18	23658125	C	G	18	26078161	y	y	splicing	SS18(NM_005637:exon4:c.147-1G>C;NM_001007559:exon4:c.147-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.147-1G>C;ENST00000542420:exon4:c.78-1G>C;ENST00000579640:exon5:c.313-1G>C;ENST00000269137:exon4:c.147-1G>C;ENST00000585121:exon5:c.266-1G>C;ENST00000539244:exon3:c.70-1G>C;ENST00000578954:exon5:c.271-1G>C;ENST00000579061:exon4:c.78-1G>C;ENST00000577636:exon4:c.78-1G>C;ENST00000584083:exon4:c.78-1G>C;ENST00000578700:exon5:c.193-1G>C;ENST00000582792:exon5:c.288-1G>C;ENST00000581021:exon4:c.78-1G>C;ENST00000577572:exon5:c.262-1G>C;ENST00000582448:exon6:c.380-1G>C;ENST00000581570:exon6:c.437-1G>C;ENST00000580751:exon6:c.407-1G>C;ENST00000580642:exon6:c.432-1G>C)	.	.	0.999990361384395	0.938
18	23658125	C	T	18	26078161	y	y	splicing	SS18(NM_005637:exon4:c.147-1G>A;NM_001007559:exon4:c.147-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.147-1G>A;ENST00000542420:exon4:c.78-1G>A;ENST00000579640:exon5:c.313-1G>A;ENST00000269137:exon4:c.147-1G>A;ENST00000585121:exon5:c.266-1G>A;ENST00000539244:exon3:c.70-1G>A;ENST00000578954:exon5:c.271-1G>A;ENST00000579061:exon4:c.78-1G>A;ENST00000577636:exon4:c.78-1G>A;ENST00000584083:exon4:c.78-1G>A;ENST00000578700:exon5:c.193-1G>A;ENST00000582792:exon5:c.288-1G>A;ENST00000581021:exon4:c.78-1G>A;ENST00000577572:exon5:c.262-1G>A;ENST00000582448:exon6:c.380-1G>A;ENST00000581570:exon6:c.437-1G>A;ENST00000580751:exon6:c.407-1G>A;ENST00000580642:exon6:c.432-1G>A)	.	.	0.999990361384395	0.938
18	23658126	T	A	18	26078162	y	y	splicing	SS18(NM_005637:exon4:c.147-2A>T;NM_001007559:exon4:c.147-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.147-2A>T;ENST00000542420:exon4:c.78-2A>T;ENST00000579640:exon5:c.313-2A>T;ENST00000269137:exon4:c.147-2A>T;ENST00000585121:exon5:c.266-2A>T;ENST00000539244:exon3:c.70-2A>T;ENST00000578954:exon5:c.271-2A>T;ENST00000579061:exon4:c.78-2A>T;ENST00000577636:exon4:c.78-2A>T;ENST00000584083:exon4:c.78-2A>T;ENST00000578700:exon5:c.193-2A>T;ENST00000582792:exon5:c.288-2A>T;ENST00000581021:exon4:c.78-2A>T;ENST00000577572:exon5:c.262-2A>T;ENST00000582448:exon6:c.380-2A>T;ENST00000581570:exon6:c.437-2A>T;ENST00000580751:exon6:c.407-2A>T;ENST00000580642:exon6:c.432-2A>T)	.	.	0.999988247793601	0.93
18	23658126	T	C	18	26078162	y	y	splicing	SS18(NM_005637:exon4:c.147-2A>G;NM_001007559:exon4:c.147-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.147-2A>G;ENST00000542420:exon4:c.78-2A>G;ENST00000579640:exon5:c.313-2A>G;ENST00000269137:exon4:c.147-2A>G;ENST00000585121:exon5:c.266-2A>G;ENST00000539244:exon3:c.70-2A>G;ENST00000578954:exon5:c.271-2A>G;ENST00000579061:exon4:c.78-2A>G;ENST00000577636:exon4:c.78-2A>G;ENST00000584083:exon4:c.78-2A>G;ENST00000578700:exon5:c.193-2A>G;ENST00000582792:exon5:c.288-2A>G;ENST00000581021:exon4:c.78-2A>G;ENST00000577572:exon5:c.262-2A>G;ENST00000582448:exon6:c.380-2A>G;ENST00000581570:exon6:c.437-2A>G;ENST00000580751:exon6:c.407-2A>G;ENST00000580642:exon6:c.432-2A>G)	.	.	0.999988247793601	0.93
18	23658126	T	G	18	26078162	y	y	splicing	SS18(NM_005637:exon4:c.147-2A>C;NM_001007559:exon4:c.147-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon4:c.147-2A>C;ENST00000542420:exon4:c.78-2A>C;ENST00000579640:exon5:c.313-2A>C;ENST00000269137:exon4:c.147-2A>C;ENST00000585121:exon5:c.266-2A>C;ENST00000539244:exon3:c.70-2A>C;ENST00000578954:exon5:c.271-2A>C;ENST00000579061:exon4:c.78-2A>C;ENST00000577636:exon4:c.78-2A>C;ENST00000584083:exon4:c.78-2A>C;ENST00000578700:exon5:c.193-2A>C;ENST00000582792:exon5:c.288-2A>C;ENST00000581021:exon4:c.78-2A>C;ENST00000577572:exon5:c.262-2A>C;ENST00000582448:exon6:c.380-2A>C;ENST00000581570:exon6:c.437-2A>C;ENST00000580751:exon6:c.407-2A>C;ENST00000580642:exon6:c.432-2A>C)	.	.	0.999988247793601	0.93
18	23658127	A	C	18	26078163	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999715541630025	0.868
18	23658127	A	G	18	26078163	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.31906578784974E-4	0.052
18	23658127	A	T	18	26078163	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.194257426200671	0.2
18	23658128	T	A	18	26078164	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.1413733689046E-4	0.018
18	23658128	T	C	18	26078164	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.998210319965348	0.912
18	23658128	T	G	18	26078164	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.77349772763435E-5	0.0
18	23658129	T	A	18	26078165	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.99625935506156E-5	0.002
18	23658129	T	C	18	26078165	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.64944720517389E-4	0.042
18	23658129	T	G	18	26078165	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.6421891764598E-5	0.002
18	23658130	A	C	18	26078166	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.210022590045492	0.514
18	23658130	A	G	18	26078166	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.9133497014614E-4	0.002
18	23658130	A	T	18	26078166	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0591595460590686	0.388
18	23658131	A	C	18	26078167	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.937462410973523	0.688
18	23658131	A	G	18	26078167	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0216380915207464	0.38
18	23658131	A	T	18	26078167	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.98070954192845	0.84
18	23658132	A	C	18	26078168	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.916777613161496	0.662
18	23658132	A	G	18	26078168	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0216380915207464	0.526
18	23658132	A	T	18	26078168	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.974483706305623	0.718
18	23658133	A	C	18	26078169	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.994571452622745	0.864
18	23658133	A	G	18	26078169	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.276861779453849	0.462
18	23658133	A	T	18	26078169	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99454620460719	0.85
18	23658134	C	A	18	26078170	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.44874801360965E-5	0.08
18	23658134	C	G	18	26078170	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.14482576022636E-5	0.034
18	23658134	C	T	18	26078170	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.38323236772362E-5	0.094
18	23658135	A	C	18	26078171	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.655021907125672	0.586
18	23658135	A	G	18	26078171	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0554381626530774	0.182
18	23658135	A	T	18	26078171	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999742710717194	0.854
18	23658136	A	C	18	26078172	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.982157445128523	0.654
18	23658136	A	G	18	26078172	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.25540802183195	0.442
18	23658136	A	T	18	26078172	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.981424955229522	0.75
18	23658967	A	C	18	26079003	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.03338637177512E-4	0.002
18	23658967	A	G	18	26079003	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.03338637177512E-4	0.002
18	23658967	A	T	18	26079003	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.03781445458715E-4	0.002
18	23658968	A	C	18	26079004	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.73406751144135E-5	0.004
18	23658968	A	G	18	26079004	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.73406751144135E-5	0.002
18	23658968	A	T	18	26079004	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.78684081159298E-5	0.002
18	23658969	C	A	18	26079005	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.71811775086873E-5	0.002
18	23658969	C	G	18	26079005	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.71811775086873E-5	0.008
18	23658969	C	T	18	26079005	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.65388135286213E-5	0.002
18	23658970	C	A	18	26079006	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.09828708177445E-5	0.0
18	23658970	C	G	18	26079006	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.09828708177445E-5	0.0
18	23658970	C	T	18	26079006	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.72760553213487E-5	0.0
18	23658971	A	C	18	26079007	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.23892897236096E-4	0.012
18	23658971	A	G	18	26079007	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.23892897236096E-4	0.012
18	23658971	A	T	18	26079007	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.23892897236096E-4	0.006
18	23658972	C	A	18	26079008	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.91864902820758E-5	0.0
18	23658972	C	G	18	26079008	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.91864902820758E-5	0.0
18	23658972	C	T	18	26079008	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.91864902820758E-5	0.0
18	23658973	A	C	18	26079009	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.192+2T>G;ENST00000577572:exon4:c.261+2T>G;ENST00000582448:exon5:c.379+2T>G;ENST00000580751:exon5:c.406+2T>G)	.	.	1.46958351375406E-5	0.004
18	23658973	A	G	18	26079009	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.192+2T>C;ENST00000577572:exon4:c.261+2T>C;ENST00000582448:exon5:c.379+2T>C;ENST00000580751:exon5:c.406+2T>C)	.	.	1.46958351375406E-5	0.004
18	23658973	A	T	18	26079009	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.192+2T>A;ENST00000577572:exon4:c.261+2T>A;ENST00000582448:exon5:c.379+2T>A;ENST00000580751:exon5:c.406+2T>A)	.	.	6.36340088948343E-5	0.006
18	23658974	C	A	18	26079010	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.192+1G>T;ENST00000577572:exon4:c.261+1G>T;ENST00000582448:exon5:c.379+1G>T;ENST00000580751:exon5:c.406+1G>T)	.	.	9.72760553213487E-5	0.004
18	23658974	C	G	18	26079010	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.192+1G>C;ENST00000577572:exon4:c.261+1G>C;ENST00000582448:exon5:c.379+1G>C;ENST00000580751:exon5:c.406+1G>C)	.	.	9.72760553213487E-5	0.0
18	23658974	C	T	18	26079010	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.192+1G>A;ENST00000577572:exon4:c.261+1G>A;ENST00000582448:exon5:c.379+1G>A;ENST00000580751:exon5:c.406+1G>A)	.	.	7.27456659313109E-5	0.0
18	23658975	C	A	18	26079011	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.79022420352036E-5	0.0
18	23658975	C	G	18	26079011	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.79022420352036E-5	0.0
18	23658975	C	T	18	26079011	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.79022420352036E-5	0.0
18	23658976	T	A	18	26079012	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.36340088948343E-5	0.008
18	23658976	T	C	18	26079012	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.36340088948343E-5	0.006
18	23658976	T	G	18	26079012	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.36340088948343E-5	0.006
18	23658977	T	A	18	26079013	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	7.83708300348738E-5	0.014
18	23658977	T	C	18	26079013	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	3.77050787608786E-5	0.014
18	23658977	T	G	18	26079013	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	7.83708300348738E-5	0.016
18	23659088	A	C	18	26079124	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577572:exon3:c.T148G:p.W50G;ENSG00000141380:ENST00000578700:exon3:c.T79G:p.W27G;	3.73406751144135E-5	0.004
18	23659088	A	G	18	26079124	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577572:exon3:c.T148C:p.W50R;ENSG00000141380:ENST00000578700:exon3:c.T79C:p.W27R;	6.78684081159298E-5	0.002
18	23659088	A	T	18	26079124	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577572:exon3:c.T148A:p.W50R;ENSG00000141380:ENST00000578700:exon3:c.T79A:p.W27R;	6.78684081159298E-5	0.002
18	23659089	A	C	18	26079125	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577572:exon3:c.T147G:p.H49Q;ENSG00000141380:ENST00000578700:exon3:c.T78G:p.H26Q;	2.33815804894828E-5	0.0
18	23659089	A	G	18	26079125	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000577572:exon3:c.T147C:p.H49H;ENSG00000141380:ENST00000578700:exon3:c.T78C:p.H26H;	2.256915070725E-5	0.0
18	23659089	A	T	18	26079125	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000577572:exon3:c.T147A:p.H49Q;ENSG00000141380:ENST00000578700:exon3:c.T78A:p.H26Q;	2.33815804894828E-5	0.0
18	23659090	C	A	18	26079126	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.78-1G>T;ENST00000577572:exon4:c.147-1G>T)	.	.	5.15941453541388E-5	0.002
18	23659090	C	G	18	26079126	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.78-1G>C;ENST00000577572:exon4:c.147-1G>C)	.	.	5.15941453541388E-5	0.012
18	23659090	C	T	18	26079126	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.78-1G>A;ENST00000577572:exon4:c.147-1G>A)	.	.	5.15941453541388E-5	0.002
18	23659091	T	A	18	26079127	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.78-2A>T;ENST00000577572:exon4:c.147-2A>T)	.	.	5.86075475573093E-5	0.0
18	23659091	T	C	18	26079127	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.78-2A>G;ENST00000577572:exon4:c.147-2A>G)	.	.	5.86075475573093E-5	0.0
18	23659091	T	G	18	26079127	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578700:exon4:c.78-2A>C;ENST00000577572:exon4:c.147-2A>C)	.	.	5.86075475573093E-5	0.0
18	23659092	A	C	18	26079128	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.59797615271383E-5	0.008
18	23659092	A	G	18	26079128	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.59797615271383E-5	0.01
18	23659092	A	T	18	26079128	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.59797615271383E-5	0.0
18	23659093	C	A	18	26079129	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	3.49745092444763E-5	0.0
18	23659093	C	G	18	26079129	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	3.49745092444763E-5	0.0
18	23659093	C	T	18	26079129	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	3.49745092444763E-5	0.0
18	23659094	A	C	18	26079130	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	5.50552619103442E-5	0.006
18	23659094	A	G	18	26079130	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	5.50552619103442E-5	0.006
18	23659094	A	T	18	26079130	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	5.50552619103442E-5	0.014
18	23659095	G	A	18	26079131	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	2.01163773767764E-5	0.0
18	23659095	G	C	18	26079131	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.86431456331734E-5	0.0
18	23659095	G	T	18	26079131	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.86431456331734E-5	0.0
18	23659096	A	C	18	26079132	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.14301101535901E-5	0.0
18	23659096	A	G	18	26079132	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.14301101535901E-5	0.0
18	23659096	A	T	18	26079132	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.47039489069415E-5	0.004
18	23659097	A	C	18	26079133	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.46004206284423E-5	0.002
18	23659097	A	G	18	26079133	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.46004206284423E-5	0.002
18	23659097	A	T	18	26079133	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.46004206284423E-5	0.002
18	23659098	A	C	18	26079134	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.552751562108E-5	0.006
18	23659098	A	G	18	26079134	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.552751562108E-5	0.006
18	23659098	A	T	18	26079134	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.90028566392549E-5	0.006
18	23659099	A	C	18	26079135	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	8.8091518663914E-5	0.0
18	23659099	A	G	18	26079135	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	8.8091518663914E-5	0.0
18	23659099	A	T	18	26079135	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.01592652402579E-5	0.0
18	23659100	A	C	18	26079136	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	0.00152067379830319	0.008
18	23659100	A	G	18	26079136	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	0.00152067379830319	0.008
18	23659100	A	T	18	26079136	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	0.00152067379830319	0.008
18	23659101	A	C	18	26079137	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.46844991217429E-5	0.0
18	23659101	A	G	18	26079137	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.46844991217429E-5	0.0
18	23659101	A	T	18	26079137	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.46844991217429E-5	0.0
18	23659109	T	A	18	26079145	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.552751562108E-5	0.006
18	23659109	T	C	18	26079145	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.14301101535901E-5	0.0
18	23659109	T	G	18	26079145	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.47039489069415E-5	0.0
18	23659110	G	A	18	26079146	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	7.3525528897954E-5	0.004
18	23659110	G	C	18	26079146	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	7.3525528897954E-5	0.002
18	23659110	G	T	18	26079146	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	7.3525528897954E-5	0.004
18	23659111	C	A	18	26079147	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582448:exon5:c.244-1G>T;ENST00000580751:exon5:c.271-1G>T)	.	.	3.57076726553018E-5	0.0
18	23659111	C	G	18	26079147	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582448:exon5:c.244-1G>C;ENST00000580751:exon5:c.271-1G>C)	.	.	3.57076726553018E-5	0.0
18	23659111	C	T	18	26079147	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582448:exon5:c.244-1G>A;ENST00000580751:exon5:c.271-1G>A)	.	.	3.57076726553018E-5	0.0
18	23659112	T	A	18	26079148	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582448:exon5:c.244-2A>T;ENST00000580751:exon5:c.271-2A>T)	.	.	7.48306501328221E-5	0.0
18	23659112	T	C	18	26079148	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582448:exon5:c.244-2A>G;ENST00000580751:exon5:c.271-2A>G)	.	.	4.11713759611921E-5	0.0
18	23659112	T	G	18	26079148	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582448:exon5:c.244-2A>C;ENST00000580751:exon5:c.271-2A>C)	.	.	4.11713759611921E-5	0.004
18	23659113	A	C	18	26079149	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.51166692036535E-4	0.01
18	23659113	A	G	18	26079149	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.51166692036535E-4	0.01
18	23659113	A	T	18	26079149	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00102211620560074	0.008
18	23659114	A	C	18	26079150	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.36340088948343E-5	0.01
18	23659114	A	G	18	26079150	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.36340088948343E-5	0.01
18	23659114	A	T	18	26079150	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.36340088948343E-5	0.01
18	23659115	A	C	18	26079151	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.78684081159298E-5	0.004
18	23659115	A	G	18	26079151	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.78684081159298E-5	0.006
18	23659115	A	T	18	26079151	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.78684081159298E-5	0.002
18	23659116	A	C	18	26079152	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.67738868662274E-5	0.0
18	23659116	A	G	18	26079152	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.67738868662274E-5	0.0
18	23659116	A	T	18	26079152	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.67738868662274E-5	0.0
18	23659117	C	A	18	26079153	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.13951347297017E-5	0.0
18	23659117	C	G	18	26079153	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.1436268300105E-5	0.0
18	23659117	C	T	18	26079153	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.13951347297017E-5	0.0
18	23659118	A	C	18	26079154	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.52773432237745E-4	0.006
18	23659118	A	G	18	26079154	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.52773432237745E-4	0.006
18	23659118	A	T	18	26079154	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.52773432237745E-4	0.004
18	23659119	A	C	18	26079155	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.54304584892783E-6	0.004
18	23659119	A	G	18	26079155	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.54304584892783E-6	0.002
18	23659119	A	T	18	26079155	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.54304584892783E-6	0.0
18	23659120	A	C	18	26079156	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.95241758590049E-5	0.0
18	23659120	A	G	18	26079156	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.95241758590049E-5	0.0
18	23659120	A	T	18	26079156	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.95241758590049E-5	0.0
18	23659121	A	C	18	26079157	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.68219155180855E-5	0.002
18	23659121	A	G	18	26079157	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.68219155180855E-5	0.002
18	23659121	A	T	18	26079157	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.14301101535901E-5	0.002
18	23659122	G	A	18	26079158	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.08593451297961E-5	0.0
18	23659122	G	C	18	26079158	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.08593451297961E-5	0.0
18	23659122	G	T	18	26079158	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.08593451297961E-5	0.0
18	23660261	C	A	18	26080297	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.19983902921783E-4	0.02
18	23660261	C	G	18	26080297	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.19983902921783E-4	0.022
18	23660261	C	T	18	26080297	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.19983902921783E-4	0.022
18	23660262	A	C	18	26080298	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.70668074011301E-5	0.0
18	23660262	A	G	18	26080298	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.70668074011301E-5	0.0
18	23660262	A	T	18	26080298	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.70668074011301E-5	0.0
18	23660263	C	A	18	26080299	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.71495267734267E-6	0.0
18	23660263	C	G	18	26080299	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.71495267734267E-6	0.0
18	23660263	C	T	18	26080299	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.0482661884663E-5	0.0
18	23660264	A	C	18	26080300	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.91117532231267E-5	0.006
18	23660264	A	G	18	26080300	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.91117532231267E-5	0.006
18	23660264	A	T	18	26080300	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.91117532231267E-5	0.01
18	23660265	T	A	18	26080301	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.91117532231267E-5	0.01
18	23660265	T	C	18	26080301	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.91117532231267E-5	0.006
18	23660265	T	G	18	26080301	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.91117532231267E-5	0.006
18	23660266	A	C	18	26080302	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.64774154134373E-5	0.004
18	23660266	A	G	18	26080302	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.64774154134373E-5	0.004
18	23660266	A	T	18	26080302	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.13479546036976E-5	0.006
18	23660267	A	C	18	26080303	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.265+2T>G;ENST00000580642:exon5:c.431+2T>G)	.	.	2.61591368253953E-4	0.004
18	23660267	A	G	18	26080303	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.265+2T>C;ENST00000580642:exon5:c.431+2T>C)	.	.	2.42185201671229E-4	0.004
18	23660267	A	T	18	26080303	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.265+2T>A;ENST00000580642:exon5:c.431+2T>A)	.	.	3.02060739327312E-4	0.004
18	23660268	C	A	18	26080304	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.265+1G>T;ENST00000580642:exon5:c.431+1G>T)	.	.	4.39455612759825E-5	0.0
18	23660268	C	G	18	26080304	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.265+1G>C;ENST00000580642:exon5:c.431+1G>C)	.	.	2.41782489535009E-5	0.0
18	23660268	C	T	18	26080304	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.265+1G>A;ENST00000580642:exon5:c.431+1G>A)	.	.	4.39455612759825E-5	0.0
18	23660269	C	A	18	26080305	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	5.32941630131073E-6	0.002
18	23660269	C	G	18	26080305	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	5.32941630131073E-6	0.002
18	23660269	C	T	18	26080305	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	5.32941630131073E-6	0.002
18	23660270	T	A	18	26080306	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	8.41208634289763E-5	0.008
18	23660270	T	C	18	26080306	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	4.62829891511816E-5	0.006
18	23660270	T	G	18	26080306	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	4.62829891511816E-5	0.006
18	23660271	G	A	18	26080307	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	3.31929338280547E-5	0.004
18	23660271	G	C	18	26080307	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	3.07620641825897E-5	0.0
18	23660271	G	T	18	26080307	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	3.31929338280547E-5	0.0
18	23660386	C	A	18	26080422	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000585121:exon3:c.G148T:p.V50F;	1.8607438459496E-5	0.0
18	23660386	C	G	18	26080422	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000585121:exon3:c.G148C:p.V50L;	3.3820400020461E-5	0.0
18	23660386	C	T	18	26080422	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000585121:exon3:c.G148A:p.V50I;	3.50378308532496E-5	0.0
18	23660387	C	A	18	26080423	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000585121:exon3:c.G147T:p.Q49H;	3.23318671281552E-5	0.008
18	23660387	C	G	18	26080423	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000585121:exon3:c.G147C:p.Q49H;	3.23318671281552E-5	0.006
18	23660387	C	T	18	26080423	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000585121:exon3:c.G147A:p.Q49Q;	1.36210594390384E-5	0.004
18	23660388	C	A	18	26080424	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.147-1G>T;ENST00000580642:exon5:c.313-1G>T)	.	.	1.0731844778051E-4	0.002
18	23660388	C	G	18	26080424	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.147-1G>C;ENST00000580642:exon5:c.313-1G>C)	.	.	1.0731844778051E-4	0.004
18	23660388	C	T	18	26080424	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.147-1G>A;ENST00000580642:exon5:c.313-1G>A)	.	.	1.0731844778051E-4	0.002
18	23660389	T	A	18	26080425	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.147-2A>T;ENST00000580642:exon5:c.313-2A>T)	.	.	9.16029726566022E-5	0.0
18	23660389	T	C	18	26080425	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.147-2A>G;ENST00000580642:exon5:c.313-2A>G)	.	.	9.16029726566022E-5	0.0
18	23660389	T	G	18	26080425	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000585121:exon4:c.147-2A>C;ENST00000580642:exon5:c.313-2A>C)	.	.	9.16029726566022E-5	0.0
18	23660390	T	A	18	26080426	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.46027422144494E-5	0.006
18	23660390	T	C	18	26080426	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.98425315982792E-5	0.0
18	23660390	T	G	18	26080426	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.98425315982792E-5	0.0
18	23660391	T	A	18	26080427	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.07620641825897E-5	0.0
18	23660391	T	C	18	26080427	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.07620641825897E-5	0.0
18	23660391	T	G	18	26080427	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.07620641825897E-5	0.0
18	23660392	A	C	18	26080428	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.81132499271657E-5	0.06
18	23660392	A	G	18	26080428	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.81132499271657E-5	0.07
18	23660392	A	T	18	26080428	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.81132499271657E-5	0.01
18	23660393	A	C	18	26080429	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.81132499271657E-5	0.012
18	23660393	A	G	18	26080429	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.81132499271657E-5	0.012
18	23660393	A	T	18	26080429	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.81132499271657E-5	0.014
18	23660394	G	A	18	26080430	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.94057346413655E-4	0.136
18	23660394	G	C	18	26080430	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.94057346413655E-4	0.064
18	23660394	G	T	18	26080430	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.94057346413655E-4	0.088
18	23660395	A	C	18	26080431	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.7395485643605E-5	0.006
18	23660395	A	G	18	26080431	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.7395485643605E-5	0.006
18	23660395	A	T	18	26080431	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.03997877173435E-5	0.012
18	23660396	A	C	18	26080432	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.82017530859512E-4	0.006
18	23660396	A	G	18	26080432	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.82017530859512E-4	0.006
18	23660396	A	T	18	26080432	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.82017530859512E-4	0.006
18	23660397	A	C	18	26080433	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.82017530859512E-4	0.006
18	23660397	A	G	18	26080433	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.82017530859512E-4	0.006
18	23660397	A	T	18	26080433	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.82017530859512E-4	0.006
18	23660398	A	C	18	26080434	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.16029726566022E-5	0.0
18	23660398	A	G	18	26080434	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.16029726566022E-5	0.0
18	23660398	A	T	18	26080434	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.16029726566022E-5	0.0
18	23660399	A	C	18	26080435	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.92483981704387E-5	0.012
18	23660399	A	G	18	26080435	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.92483981704387E-5	0.012
18	23660399	A	T	18	26080435	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.92483981704387E-5	0.0
18	23661181	A	C	18	26081217	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.90177193295887E-6	0.006
18	23661181	A	G	18	26081217	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.90177193295887E-6	0.006
18	23661181	A	T	18	26081217	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.37501361942679E-5	0.002
18	23661182	A	C	18	26081218	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.95241758590049E-5	0.0
18	23661182	A	G	18	26081218	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.95241758590049E-5	0.0
18	23661182	A	T	18	26081218	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.95241758590049E-5	0.0
18	23661183	T	A	18	26081219	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.016
18	23661183	T	C	18	26081219	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.016
18	23661183	T	G	18	26081219	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.016
18	23661184	C	A	18	26081220	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.002
18	23661184	C	G	18	26081220	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.002
18	23661184	C	T	18	26081220	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.002
18	23661185	T	A	18	26081221	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.37501361942679E-5	0.002
18	23661185	T	C	18	26081221	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.90177193295887E-6	0.006
18	23661185	T	G	18	26081221	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.90177193295887E-6	0.006
18	23661186	C	A	18	26081222	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.09337574150394E-6	0.004
18	23661186	C	G	18	26081222	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.09337574150394E-6	0.004
18	23661186	C	T	18	26081222	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.09337574150394E-6	0.004
18	23661187	A	C	18	26081223	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.287+2T>G)	.	.	1.69884688945688E-4	0.01
18	23661187	A	G	18	26081223	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.287+2T>C)	.	.	1.69884688945688E-4	0.01
18	23661187	A	T	18	26081223	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.287+2T>A)	.	.	1.69884688945688E-4	0.014
18	23661188	C	A	18	26081224	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.287+1G>T)	.	.	3.07620641825897E-5	0.002
18	23661188	C	G	18	26081224	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.287+1G>C)	.	.	1.99153316237132E-5	0.002
18	23661188	C	T	18	26081224	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.287+1G>A)	.	.	3.07620641825897E-5	0.002
18	23661189	T	A	18	26081225	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.58927937202005E-5	0.002
18	23661189	T	C	18	26081225	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.58927937202005E-5	0.002
18	23661189	T	G	18	26081225	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	1.58927937202005E-5	0.002
18	23661190	G	A	18	26081226	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.77158679359615E-5	0.034
18	23661190	G	C	18	26081226	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.77158679359615E-5	0.032
18	23661190	G	T	18	26081226	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.77158679359615E-5	0.034
18	23661191	T	A	18	26081227	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	stoploss SNV	ENSG00000141380:ENST00000582792:exon3:c.A285T:p.X95C;	6.19654958573966E-5	0.02
18	23661191	T	C	18	26081227	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	stoploss SNV	ENSG00000141380:ENST00000582792:exon3:c.A285G:p.X95W;	1.13286197146302E-4	0.02
18	23661191	T	G	18	26081227	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	stoploss SNV	ENSG00000141380:ENST00000582792:exon3:c.A285C:p.X95C;	1.13286197146302E-4	0.02
18	23661328	T	A	18	26081364	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000582792:exon3:c.A148T:p.T50S;	2.27163650926202E-4	0.046
18	23661328	T	C	18	26081364	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000582792:exon3:c.A148G:p.T50A;	9.57123356397867E-5	0.016
18	23661328	T	G	18	26081364	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000582792:exon3:c.A148C:p.T50P;	9.57123356397867E-5	0.012
18	23661329	A	C	18	26081365	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000582792:exon3:c.T147G:p.H49Q;	1.58927937202005E-5	0.002
18	23661329	A	G	18	26081365	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000582792:exon3:c.T147C:p.H49H;	1.0288925866825E-5	0.002
18	23661329	A	T	18	26081365	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000582792:exon3:c.T147A:p.H49Q;	1.71486889510802E-5	0.002
18	23661330	C	A	18	26081366	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.147-1G>T)	.	.	3.07620641825897E-5	0.0
18	23661330	C	G	18	26081366	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.147-1G>C)	.	.	3.07620641825897E-5	0.0
18	23661330	C	T	18	26081366	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.147-1G>A)	.	.	3.07620641825897E-5	0.0
18	23661331	T	A	18	26081367	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.147-2A>T)	.	.	3.08739841361144E-4	0.008
18	23661331	T	C	18	26081367	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.147-2A>G)	.	.	3.08739841361144E-4	0.012
18	23661331	T	G	18	26081367	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000582792:exon4:c.147-2A>C)	.	.	3.08739841361144E-4	0.012
18	23661332	T	A	18	26081368	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661332	T	C	18	26081368	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661332	T	G	18	26081368	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661333	T	A	18	26081369	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661333	T	C	18	26081369	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661333	T	G	18	26081369	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661334	T	A	18	26081370	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.58927937202005E-5	0.002
18	23661334	T	C	18	26081370	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.0288925866825E-5	0.002
18	23661334	T	G	18	26081370	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.0288925866825E-5	0.002
18	23661335	A	C	18	26081371	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661335	A	G	18	26081371	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661335	A	T	18	26081371	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.014
18	23661336	G	A	18	26081372	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.90177193295887E-6	0.002
18	23661336	G	C	18	26081372	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.90177193295887E-6	0.002
18	23661336	G	T	18	26081372	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.90177193295887E-6	0.004
18	23661337	T	A	18	26081373	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.99373255183416E-4	0.018
18	23661337	T	C	18	26081373	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661337	T	G	18	26081373	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.57123356397867E-5	0.012
18	23661338	A	C	18	26081374	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.08739841361144E-4	0.008
18	23661338	A	G	18	26081374	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.08739841361144E-4	0.008
18	23661338	A	T	18	26081374	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.08739841361144E-4	0.006
18	23661339	G	A	18	26081375	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.69884688945688E-4	0.01
18	23661339	G	C	18	26081375	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.69884688945688E-4	0.022
18	23661339	G	T	18	26081375	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.69884688945688E-4	0.01
18	23661340	A	C	18	26081376	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.5529151830241E-5	0.012
18	23661340	A	G	18	26081376	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.5529151830241E-5	0.014
18	23661340	A	T	18	26081376	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.5529151830241E-5	0.002
18	23661341	G	A	18	26081377	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.42544334184685E-5	0.006
18	23661341	G	C	18	26081377	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.71486889510802E-5	0.004
18	23661341	G	T	18	26081377	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.42544334184685E-5	0.006
18	23662319	A	C	18	26082355	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.31929338280547E-5	0.004
18	23662319	A	G	18	26082355	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.31929338280547E-5	0.004
18	23662319	A	T	18	26082355	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.78205327723092E-5	0.004
18	23662320	A	C	18	26082356	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.0288925866825E-5	0.006
18	23662320	A	G	18	26082356	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.0288925866825E-5	0.006
18	23662320	A	T	18	26082356	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.58927937202005E-5	0.004
18	23662321	C	A	18	26082357	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.0
18	23662321	C	G	18	26082357	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.0
18	23662321	C	T	18	26082357	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.0
18	23662322	C	A	18	26082358	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.99153316237132E-5	0.0
18	23662322	C	G	18	26082358	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.99153316237132E-5	0.0
18	23662322	C	T	18	26082358	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.07620641825897E-5	0.0
18	23662323	T	A	18	26082359	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.17473907829929E-4	0.014
18	23662323	T	C	18	26082359	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.58184379858508E-4	0.084
18	23662323	T	G	18	26082359	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.17473907829929E-4	0.064
18	23662324	T	A	18	26082360	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.60081151915995E-4	0.014
18	23662324	T	C	18	26082360	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.81456590373184E-4	0.07
18	23662324	T	G	18	26082360	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.81456590373184E-4	0.086
18	23662325	A	C	18	26082361	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.312+2T>G;ENST00000582448:exon4:c.243+2T>G;ENST00000581570:exon5:c.436+2T>G;ENST00000580642:exon4:c.312+2T>G)	.	.	3.60081151915995E-4	0.014
18	23662325	A	G	18	26082361	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.312+2T>C;ENST00000582448:exon4:c.243+2T>C;ENST00000581570:exon5:c.436+2T>C;ENST00000580642:exon4:c.312+2T>C)	.	.	3.60081151915995E-4	0.014
18	23662325	A	T	18	26082361	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.312+2T>A;ENST00000582448:exon4:c.243+2T>A;ENST00000581570:exon5:c.436+2T>A;ENST00000580642:exon4:c.312+2T>A)	.	.	6.54291542054858E-4	0.008
18	23662326	C	A	18	26082362	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.312+1G>T;ENST00000582448:exon4:c.243+1G>T;ENST00000581570:exon5:c.436+1G>T;ENST00000580642:exon4:c.312+1G>T)	.	.	4.29806499607918E-4	0.016
18	23662326	C	G	18	26082362	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.312+1G>C;ENST00000582448:exon4:c.243+1G>C;ENST00000581570:exon5:c.436+1G>C;ENST00000580642:exon4:c.312+1G>C)	.	.	4.29806499607918E-4	0.016
18	23662326	C	T	18	26082362	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.312+1G>A;ENST00000582448:exon4:c.243+1G>A;ENST00000581570:exon5:c.436+1G>A;ENST00000580642:exon4:c.312+1G>A)	.	.	4.29806499607918E-4	0.016
18	23662327	C	A	18	26082363	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	5.55632770331648E-4	0.072
18	23662327	C	G	18	26082363	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	5.55632770331648E-4	0.056
18	23662327	C	T	18	26082363	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	5.55632770331648E-4	0.166
18	23662328	T	A	18	26082364	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	6.4243997895107E-5	0.008
18	23662328	T	C	18	26082364	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	1.48367148474546E-5	0.004
18	23662328	T	G	18	26082364	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	1.48367148474546E-5	0.006
18	23662329	A	C	18	26082365	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	3.60081151915995E-4	0.066
18	23662329	A	G	18	26082365	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	4.81456590373184E-4	0.086
18	23662329	A	T	18	26082365	n	y	intronic	SS18	.	.	UTR5;UTR3	ENSG00000141380;ENSG00000141380	.	.	3.60081151915995E-4	0.008
18	23662491	C	A	18	26082527	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon3:c.G148T:p.V50L;ENSG00000141380:ENST00000580642:exon3:c.G148T:p.V50L;ENSG00000141380:ENST00000582448:exon3:c.G79T:p.V27L;	7.47324208822106E-5	0.0
18	23662491	C	G	18	26082527	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon3:c.G148C:p.V50L;ENSG00000141380:ENST00000580642:exon3:c.G148C:p.V50L;ENSG00000141380:ENST00000582448:exon3:c.G79C:p.V27L;	4.11173289983824E-5	0.002
18	23662491	C	T	18	26082527	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon3:c.G148A:p.V50M;ENSG00000141380:ENST00000580642:exon3:c.G148A:p.V50M;ENSG00000141380:ENST00000582448:exon3:c.G79A:p.V27M;	4.11173289983824E-5	0.002
18	23662492	C	A	18	26082528	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon3:c.G147T:p.Q49H;ENSG00000141380:ENST00000580642:exon3:c.G147T:p.Q49H;ENSG00000141380:ENST00000582448:exon3:c.G78T:p.Q26H;	4.72863585454216E-5	0.006
18	23662492	C	G	18	26082528	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon3:c.G147C:p.Q49H;ENSG00000141380:ENST00000580642:exon3:c.G147C:p.Q49H;ENSG00000141380:ENST00000582448:exon3:c.G78C:p.Q26H;	3.31929338280547E-5	0.002
18	23662492	C	T	18	26082528	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000579640:exon3:c.G147A:p.Q49Q;ENSG00000141380:ENST00000580642:exon3:c.G147A:p.Q49Q;ENSG00000141380:ENST00000582448:exon3:c.G78A:p.Q26Q;	3.07620641825897E-5	0.0
18	23662493	C	A	18	26082529	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.147-1G>T;ENST00000582448:exon4:c.78-1G>T;ENST00000581570:exon5:c.271-1G>T;ENST00000580642:exon4:c.147-1G>T)	.	.	2.45277156108894E-5	0.0
18	23662493	C	G	18	26082529	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.147-1G>C;ENST00000582448:exon4:c.78-1G>C;ENST00000581570:exon5:c.271-1G>C;ENST00000580642:exon4:c.147-1G>C)	.	.	2.45277156108894E-5	0.0
18	23662493	C	T	18	26082529	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.147-1G>A;ENST00000582448:exon4:c.78-1G>A;ENST00000581570:exon5:c.271-1G>A;ENST00000580642:exon4:c.147-1G>A)	.	.	2.45277156108894E-5	0.0
18	23662494	T	A	18	26082530	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.147-2A>T;ENST00000582448:exon4:c.78-2A>T;ENST00000581570:exon5:c.271-2A>T;ENST00000580642:exon4:c.147-2A>T)	.	.	2.63360899965148E-5	0.002
18	23662494	T	C	18	26082530	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.147-2A>G;ENST00000582448:exon4:c.78-2A>G;ENST00000581570:exon5:c.271-2A>G;ENST00000580642:exon4:c.147-2A>G)	.	.	2.63360899965148E-5	0.01
18	23662494	T	G	18	26082530	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000579640:exon4:c.147-2A>C;ENST00000582448:exon4:c.78-2A>C;ENST00000581570:exon5:c.271-2A>C;ENST00000580642:exon4:c.147-2A>C)	.	.	2.63360899965148E-5	0.01
18	23662495	A	C	18	26082531	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.0288925866825E-5	0.01
18	23662495	A	G	18	26082531	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.0288925866825E-5	0.02
18	23662495	A	T	18	26082531	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.58927937202005E-5	0.004
18	23662496	A	C	18	26082532	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.60081151915995E-4	0.032
18	23662496	A	G	18	26082532	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.60081151915995E-4	0.032
18	23662496	A	T	18	26082532	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.60081151915995E-4	0.006
18	23662497	A	C	18	26082533	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.06850435703539E-5	0.008
18	23662497	A	G	18	26082533	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.06850435703539E-5	0.008
18	23662497	A	T	18	26082533	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.06850435703539E-5	0.008
18	23662498	A	C	18	26082534	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.81456590373184E-4	0.158
18	23662498	A	G	18	26082534	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.81456590373184E-4	0.108
18	23662498	A	T	18	26082534	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.60081151915995E-4	0.006
18	23662499	T	A	18	26082535	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.13847195961614E-5	0.002
18	23662499	T	C	18	26082535	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.13847195961614E-5	0.012
18	23662499	T	G	18	26082535	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.13847195961614E-5	0.01
18	23662500	G	A	18	26082536	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.0
18	23662500	G	C	18	26082536	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.0
18	23662500	G	T	18	26082536	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.45277156108894E-5	0.0
18	23662501	C	A	18	26082537	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00136636389108344	0.002
18	23662501	C	G	18	26082537	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00136636389108344	0.002
18	23662501	C	T	18	26082537	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.62161474073626E-4	0.002
18	23662502	A	C	18	26082538	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.54291542054858E-4	0.006
18	23662502	A	G	18	26082538	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.54291542054858E-4	0.006
18	23662502	A	T	18	26082538	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.54291542054858E-4	0.006
18	23662503	A	C	18	26082539	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.58542435370787E-4	0.008
18	23662503	A	G	18	26082539	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.58542435370787E-4	0.008
18	23662503	A	T	18	26082539	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.58542435370787E-4	0.008
18	23662504	A	C	18	26082540	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.67864951622834E-4	0.002
18	23662504	A	G	18	26082540	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.67864951622834E-4	0.002
18	23662504	A	T	18	26082540	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.67864951622834E-4	0.002
18	23664008	C	A	18	26084044	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.80465223468383E-5	0.01
18	23664008	C	G	18	26084044	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.80465223468383E-5	0.01
18	23664008	C	T	18	26084044	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.80465223468383E-5	0.01
18	23664009	T	A	18	26084045	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.38118228050303E-4	0.012
18	23664009	T	C	18	26084045	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.4403840789577E-4	0.012
18	23664009	T	G	18	26084045	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.4403840789577E-4	0.012
18	23664010	A	C	18	26084046	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.46672003578873E-5	0.012
18	23664010	A	G	18	26084046	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.46672003578873E-5	0.012
18	23664010	A	T	18	26084046	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.46672003578873E-5	0.012
18	23664011	C	A	18	26084047	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.21619245134896E-5	0.0
18	23664011	C	G	18	26084047	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.21619245134896E-5	0.0
18	23664011	C	T	18	26084047	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.21619245134896E-5	0.006
18	23664012	C	A	18	26084048	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.52159304237333E-5	0.026
18	23664012	C	G	18	26084048	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.52159304237333E-5	0.026
18	23664012	C	T	18	26084048	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.52159304237333E-5	0.044
18	23664013	C	A	18	26084049	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.46004206284423E-5	0.0
18	23664013	C	G	18	26084049	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.46004206284423E-5	0.0
18	23664013	C	T	18	26084049	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.46004206284423E-5	0.0
18	23664014	A	C	18	26084050	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.270+2T>G;ENST00000581570:exon4:c.270+2T>G;ENST00000580751:exon4:c.270+2T>G)	.	.	7.84397551808994E-5	0.006
18	23664014	A	G	18	26084050	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.270+2T>C;ENST00000581570:exon4:c.270+2T>C;ENST00000580751:exon4:c.270+2T>C)	.	.	7.84397551808994E-5	0.006
18	23664014	A	T	18	26084050	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.270+2T>A;ENST00000581570:exon4:c.270+2T>A;ENST00000580751:exon4:c.270+2T>A)	.	.	5.86590924201456E-5	0.012
18	23664015	C	A	18	26084051	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.270+1G>T;ENST00000581570:exon4:c.270+1G>T;ENST00000580751:exon4:c.270+1G>T)	.	.	1.00675832680685E-4	0.0
18	23664015	C	G	18	26084051	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.270+1G>C;ENST00000581570:exon4:c.270+1G>C;ENST00000580751:exon4:c.270+1G>C)	.	.	1.00675832680685E-4	0.004
18	23664015	C	T	18	26084051	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.270+1G>A;ENST00000581570:exon4:c.270+1G>A;ENST00000580751:exon4:c.270+1G>A)	.	.	1.00675832680685E-4	0.002
18	23664016	C	A	18	26084052	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.59011002566824E-5	0.028
18	23664016	C	G	18	26084052	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	6.13798544938766E-5	0.106
18	23664016	C	T	18	26084052	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.59011002566824E-5	0.022
18	23664017	T	A	18	26084053	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	9.59839159160091E-5	0.0
18	23664017	T	C	18	26084053	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	5.28102787469058E-5	0.0
18	23664017	T	G	18	26084053	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	5.28102787469058E-5	0.0
18	23664018	G	A	18	26084054	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.7749166663215E-5	0.0
18	23664018	G	C	18	26084054	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.19067828697559E-5	0.002
18	23664018	G	T	18	26084054	n	y	intronic	SS18	.	.	UTR3	ENSG00000141380	.	.	4.7749166663215E-5	0.0
18	23664138	A	C	18	26084174	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000581570:exon3:c.T148G:p.S50A;ENSG00000141380:ENST00000578954:exon3:c.T148G:p.S50A;ENSG00000141380:ENST00000580751:exon3:c.T148G:p.S50A;	8.53292460361593E-5	0.01
18	23664138	A	G	18	26084174	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000581570:exon3:c.T148C:p.S50P;ENSG00000141380:ENST00000578954:exon3:c.T148C:p.S50P;ENSG00000141380:ENST00000580751:exon3:c.T148C:p.S50P;	8.53292460361593E-5	0.01
18	23664138	A	T	18	26084174	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000581570:exon3:c.T148A:p.S50T;ENSG00000141380:ENST00000578954:exon3:c.T148A:p.S50T;ENSG00000141380:ENST00000580751:exon3:c.T148A:p.S50T;	6.38113264713725E-5	0.006
18	23664139	T	A	18	26084175	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000581570:exon3:c.A147T:p.Q49H;ENSG00000141380:ENST00000578954:exon3:c.A147T:p.Q49H;ENSG00000141380:ENST00000580751:exon3:c.A147T:p.Q49H;	4.7586829694842E-5	0.0
18	23664139	T	C	18	26084175	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000581570:exon3:c.A147G:p.Q49Q;ENSG00000141380:ENST00000578954:exon3:c.A147G:p.Q49Q;ENSG00000141380:ENST00000580751:exon3:c.A147G:p.Q49Q;	8.817246050184E-6	0.002
18	23664139	T	G	18	26084175	n	y	intronic	SS18	.	.	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000581570:exon3:c.A147C:p.Q49H;ENSG00000141380:ENST00000578954:exon3:c.A147C:p.Q49H;ENSG00000141380:ENST00000580751:exon3:c.A147C:p.Q49H;	6.36340088948343E-5	0.034
18	23664140	C	A	18	26084176	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.147-1G>T;ENST00000581570:exon4:c.147-1G>T;ENST00000580751:exon4:c.147-1G>T)	.	.	2.59802355779309E-5	0.0
18	23664140	C	G	18	26084176	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.147-1G>C;ENST00000581570:exon4:c.147-1G>C;ENST00000580751:exon4:c.147-1G>C)	.	.	2.59802355779309E-5	0.0
18	23664140	C	T	18	26084176	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.147-1G>A;ENST00000581570:exon4:c.147-1G>A;ENST00000580751:exon4:c.147-1G>A)	.	.	2.59802355779309E-5	0.0
18	23664141	T	A	18	26084177	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.147-2A>T;ENST00000581570:exon4:c.147-2A>T;ENST00000580751:exon4:c.147-2A>T)	.	.	4.6857887130806E-5	0.006
18	23664141	T	C	18	26084177	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.147-2A>G;ENST00000581570:exon4:c.147-2A>G;ENST00000580751:exon4:c.147-2A>G)	.	.	3.03359245426808E-5	0.006
18	23664141	T	G	18	26084177	n	y	intronic	SS18	.	.	splicing	ENSG00000141380(ENST00000578954:exon4:c.147-2A>C;ENST00000581570:exon4:c.147-2A>C;ENST00000580751:exon4:c.147-2A>C)	.	.	3.03359245426808E-5	0.006
18	23664142	G	A	18	26084178	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.46004206284423E-5	0.004
18	23664142	G	C	18	26084178	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.39192150166447E-5	0.006
18	23664142	G	T	18	26084178	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.46004206284423E-5	0.008
18	23664143	G	A	18	26084179	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.17805017507507E-5	0.002
18	23664143	G	C	18	26084179	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.05746745428764E-5	0.004
18	23664143	G	T	18	26084179	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.17805017507507E-5	0.002
18	23664144	A	C	18	26084180	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.61707993540616E-5	0.0
18	23664144	A	G	18	26084180	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.61707993540616E-5	0.0
18	23664144	A	T	18	26084180	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.04243866858565E-5	0.0
18	23664145	A	C	18	26084181	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.29172098833992E-5	0.034
18	23664145	A	G	18	26084181	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.29172098833992E-5	0.034
18	23664145	A	T	18	26084181	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.29172098833992E-5	0.034
18	23664146	G	A	18	26084182	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.99153316237132E-5	0.0
18	23664146	G	C	18	26084182	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.99153316237132E-5	0.0
18	23664146	G	T	18	26084182	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.99153316237132E-5	0.0
18	23664147	A	C	18	26084183	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.66982619474429E-5	0.006
18	23664147	A	G	18	26084183	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.66982619474429E-5	0.006
18	23664147	A	T	18	26084183	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.9635955398612E-5	0.008
18	23664148	A	C	18	26084184	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.0180149904064E-5	0.0
18	23664148	A	G	18	26084184	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.0180149904064E-5	0.0
18	23664148	A	T	18	26084184	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.256915070725E-5	0.004
18	23664149	T	A	18	26084185	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.36340088948343E-5	0.0
18	23664149	T	C	18	26084185	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.46958351375406E-5	0.0
18	23664149	T	G	18	26084185	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.46958351375406E-5	0.0
18	23664150	T	A	18	26084186	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.91864902820758E-5	0.0
18	23664150	T	C	18	26084186	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.91864902820758E-5	0.0
18	23664150	T	G	18	26084186	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.91864902820758E-5	0.0
18	23664151	A	C	18	26084187	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.0180149904064E-5	0.002
18	23664151	A	G	18	26084187	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.0180149904064E-5	0.002
18	23664151	A	T	18	26084187	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.256915070725E-5	0.0
18	23667457	A	C	18	26087493	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.34119968715825E-4	0.184
18	23667457	A	G	18	26087493	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.77214291517589E-4	0.212
18	23667457	A	T	18	26087493	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.92042971402227E-5	0.012
18	23667458	A	C	18	26087494	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.46175166467479E-5	0.0
18	23667458	A	G	18	26087494	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.46175166467479E-5	0.0
18	23667458	A	T	18	26087494	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.46175166467479E-5	0.0
18	23667459	T	A	18	26087495	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.75578243676329E-4	0.052
18	23667459	T	C	18	26087495	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.63481254000067E-4	0.03
18	23667459	T	G	18	26087495	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00154804345481499	0.23
18	23667460	C	A	18	26087496	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999972004808821	0.984
18	23667460	C	G	18	26087496	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999967801181694	0.996
18	23667460	C	T	18	26087496	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999967801181694	0.99
18	23667461	T	A	18	26087497	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999956877361861	0.932
18	23667461	T	C	18	26087497	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999933191818021	0.964
18	23667461	T	G	18	26087497	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999954300159163	0.928
18	23667462	T	A	18	26087498	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999859236280135	0.97
18	23667462	T	C	18	26087498	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99547982515825	0.804
18	23667462	T	G	18	26087498	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99990619526431	0.974
18	23667463	A	C	18	26087499	y	y	splicing	SS18(NM_005637:exon3:c.146+2T>G;NM_001007559:exon3:c.146+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.146+2T>G;ENST00000542420:exon3:c.77+2T>G;ENST00000579640:exon3:c.146+2T>G;ENST00000269138:exon3:c.146+2T>G;ENST00000269137:exon3:c.146+2T>G;ENST00000585121:exon3:c.146+2T>G;ENST00000578954:exon3:c.146+2T>G;ENST00000579061:exon3:c.77+2T>G;ENST00000577636:exon3:c.77+2T>G;ENST00000584083:exon3:c.77+2T>G;ENST00000578700:exon3:c.77+2T>G;ENST00000582792:exon3:c.146+2T>G;ENST00000581021:exon3:c.77+2T>G;ENST00000577572:exon3:c.146+2T>G;ENST00000582448:exon3:c.77+2T>G;ENST00000581570:exon3:c.146+2T>G;ENST00000580751:exon3:c.146+2T>G;ENST00000580642:exon3:c.146+2T>G)	.	.	0.99998855355989	0.878
18	23667463	A	G	18	26087499	y	y	splicing	SS18(NM_005637:exon3:c.146+2T>C;NM_001007559:exon3:c.146+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.146+2T>C;ENST00000542420:exon3:c.77+2T>C;ENST00000579640:exon3:c.146+2T>C;ENST00000269138:exon3:c.146+2T>C;ENST00000269137:exon3:c.146+2T>C;ENST00000585121:exon3:c.146+2T>C;ENST00000578954:exon3:c.146+2T>C;ENST00000579061:exon3:c.77+2T>C;ENST00000577636:exon3:c.77+2T>C;ENST00000584083:exon3:c.77+2T>C;ENST00000578700:exon3:c.77+2T>C;ENST00000582792:exon3:c.146+2T>C;ENST00000581021:exon3:c.77+2T>C;ENST00000577572:exon3:c.146+2T>C;ENST00000582448:exon3:c.77+2T>C;ENST00000581570:exon3:c.146+2T>C;ENST00000580751:exon3:c.146+2T>C;ENST00000580642:exon3:c.146+2T>C)	.	.	0.999754763692077	0.85
18	23667463	A	T	18	26087499	y	y	splicing	SS18(NM_005637:exon3:c.146+2T>A;NM_001007559:exon3:c.146+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.146+2T>A;ENST00000542420:exon3:c.77+2T>A;ENST00000579640:exon3:c.146+2T>A;ENST00000269138:exon3:c.146+2T>A;ENST00000269137:exon3:c.146+2T>A;ENST00000585121:exon3:c.146+2T>A;ENST00000578954:exon3:c.146+2T>A;ENST00000579061:exon3:c.77+2T>A;ENST00000577636:exon3:c.77+2T>A;ENST00000584083:exon3:c.77+2T>A;ENST00000578700:exon3:c.77+2T>A;ENST00000582792:exon3:c.146+2T>A;ENST00000581021:exon3:c.77+2T>A;ENST00000577572:exon3:c.146+2T>A;ENST00000582448:exon3:c.77+2T>A;ENST00000581570:exon3:c.146+2T>A;ENST00000580751:exon3:c.146+2T>A;ENST00000580642:exon3:c.146+2T>A)	.	.	0.99998855355989	0.878
18	23667464	C	A	18	26087500	y	y	splicing	SS18(NM_005637:exon3:c.146+1G>T;NM_001007559:exon3:c.146+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.146+1G>T;ENST00000542420:exon3:c.77+1G>T;ENST00000579640:exon3:c.146+1G>T;ENST00000269138:exon3:c.146+1G>T;ENST00000269137:exon3:c.146+1G>T;ENST00000585121:exon3:c.146+1G>T;ENST00000578954:exon3:c.146+1G>T;ENST00000579061:exon3:c.77+1G>T;ENST00000577636:exon3:c.77+1G>T;ENST00000584083:exon3:c.77+1G>T;ENST00000578700:exon3:c.77+1G>T;ENST00000582792:exon3:c.146+1G>T;ENST00000581021:exon3:c.77+1G>T;ENST00000577572:exon3:c.146+1G>T;ENST00000582448:exon3:c.77+1G>T;ENST00000581570:exon3:c.146+1G>T;ENST00000580751:exon3:c.146+1G>T;ENST00000580642:exon3:c.146+1G>T)	.	.	0.999993444959628	0.928
18	23667464	C	G	18	26087500	y	y	splicing	SS18(NM_005637:exon3:c.146+1G>C;NM_001007559:exon3:c.146+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.146+1G>C;ENST00000542420:exon3:c.77+1G>C;ENST00000579640:exon3:c.146+1G>C;ENST00000269138:exon3:c.146+1G>C;ENST00000269137:exon3:c.146+1G>C;ENST00000585121:exon3:c.146+1G>C;ENST00000578954:exon3:c.146+1G>C;ENST00000579061:exon3:c.77+1G>C;ENST00000577636:exon3:c.77+1G>C;ENST00000584083:exon3:c.77+1G>C;ENST00000578700:exon3:c.77+1G>C;ENST00000582792:exon3:c.146+1G>C;ENST00000581021:exon3:c.77+1G>C;ENST00000577572:exon3:c.146+1G>C;ENST00000582448:exon3:c.77+1G>C;ENST00000581570:exon3:c.146+1G>C;ENST00000580751:exon3:c.146+1G>C;ENST00000580642:exon3:c.146+1G>C)	.	.	0.999993444959628	0.928
18	23667464	C	T	18	26087500	y	y	splicing	SS18(NM_005637:exon3:c.146+1G>A;NM_001007559:exon3:c.146+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.146+1G>A;ENST00000542420:exon3:c.77+1G>A;ENST00000579640:exon3:c.146+1G>A;ENST00000269138:exon3:c.146+1G>A;ENST00000269137:exon3:c.146+1G>A;ENST00000585121:exon3:c.146+1G>A;ENST00000578954:exon3:c.146+1G>A;ENST00000579061:exon3:c.77+1G>A;ENST00000577636:exon3:c.77+1G>A;ENST00000584083:exon3:c.77+1G>A;ENST00000578700:exon3:c.77+1G>A;ENST00000582792:exon3:c.146+1G>A;ENST00000581021:exon3:c.77+1G>A;ENST00000577572:exon3:c.146+1G>A;ENST00000582448:exon3:c.77+1G>A;ENST00000581570:exon3:c.146+1G>A;ENST00000580751:exon3:c.146+1G>A;ENST00000580642:exon3:c.146+1G>A)	.	.	0.999993444959628	0.928
18	23667465	T	A	18	26087501	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.A146T:p.Q49L;SS18:NM_005637:exon2:c.A146T:p.Q49L;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.A77T:p.Q26L;ENSG00000141380:ENST00000579640:exon2:c.A146T:p.Q49L;ENSG00000141380:ENST00000577572:exon2:c.A146T:p.H49L;ENSG00000141380:ENST00000579061:exon2:c.A77T:p.Q26L;ENSG00000141380:ENST00000581570:exon2:c.A146T:p.Q49L;ENSG00000141380:ENST00000269138:exon2:c.A146T:p.H49L;ENSG00000141380:ENST00000578700:exon2:c.A77T:p.H26L;ENSG00000141380:ENST00000578954:exon2:c.A146T:p.Q49L;ENSG00000141380:ENST00000582792:exon2:c.A146T:p.H49L;ENSG00000141380:ENST00000580642:exon2:c.A146T:p.Q49L;ENSG00000141380:ENST00000585121:exon2:c.A146T:p.Q49L;ENSG00000141380:ENST00000580751:exon2:c.A146T:p.Q49L;ENSG00000141380:ENST00000415083:exon2:c.A146T:p.Q49L;ENSG00000141380:ENST00000577636:exon2:c.A77T:p.Q26L;ENSG00000141380:ENST00000582448:exon2:c.A77T:p.Q26L;ENSG00000141380:ENST00000269137:exon2:c.A146T:p.Q49L;ENSG00000141380:ENST00000581021:exon2:c.A77T:p.Q26L;ENSG00000141380:ENST00000542420:exon2:c.A77T:p.Q26L;	0.916560611328138	0.536
18	23667465	T	C	18	26087501	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.A146G:p.Q49R;SS18:NM_005637:exon2:c.A146G:p.Q49R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.A77G:p.Q26R;ENSG00000141380:ENST00000579640:exon2:c.A146G:p.Q49R;ENSG00000141380:ENST00000577572:exon2:c.A146G:p.H49R;ENSG00000141380:ENST00000579061:exon2:c.A77G:p.Q26R;ENSG00000141380:ENST00000581570:exon2:c.A146G:p.Q49R;ENSG00000141380:ENST00000269138:exon2:c.A146G:p.H49R;ENSG00000141380:ENST00000578700:exon2:c.A77G:p.H26R;ENSG00000141380:ENST00000578954:exon2:c.A146G:p.Q49R;ENSG00000141380:ENST00000582792:exon2:c.A146G:p.H49R;ENSG00000141380:ENST00000580642:exon2:c.A146G:p.Q49R;ENSG00000141380:ENST00000585121:exon2:c.A146G:p.Q49R;ENSG00000141380:ENST00000580751:exon2:c.A146G:p.Q49R;ENSG00000141380:ENST00000415083:exon2:c.A146G:p.Q49R;ENSG00000141380:ENST00000577636:exon2:c.A77G:p.Q26R;ENSG00000141380:ENST00000582448:exon2:c.A77G:p.Q26R;ENSG00000141380:ENST00000269137:exon2:c.A146G:p.Q49R;ENSG00000141380:ENST00000581021:exon2:c.A77G:p.Q26R;ENSG00000141380:ENST00000542420:exon2:c.A77G:p.Q26R;	0.0430687624787566	0.212
18	23667465	T	G	18	26087501	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.A146C:p.Q49P;SS18:NM_005637:exon2:c.A146C:p.Q49P;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.A77C:p.Q26P;ENSG00000141380:ENST00000579640:exon2:c.A146C:p.Q49P;ENSG00000141380:ENST00000577572:exon2:c.A146C:p.H49P;ENSG00000141380:ENST00000579061:exon2:c.A77C:p.Q26P;ENSG00000141380:ENST00000581570:exon2:c.A146C:p.Q49P;ENSG00000141380:ENST00000269138:exon2:c.A146C:p.H49P;ENSG00000141380:ENST00000578700:exon2:c.A77C:p.H26P;ENSG00000141380:ENST00000578954:exon2:c.A146C:p.Q49P;ENSG00000141380:ENST00000582792:exon2:c.A146C:p.H49P;ENSG00000141380:ENST00000580642:exon2:c.A146C:p.Q49P;ENSG00000141380:ENST00000585121:exon2:c.A146C:p.Q49P;ENSG00000141380:ENST00000580751:exon2:c.A146C:p.Q49P;ENSG00000141380:ENST00000415083:exon2:c.A146C:p.Q49P;ENSG00000141380:ENST00000577636:exon2:c.A77C:p.Q26P;ENSG00000141380:ENST00000582448:exon2:c.A77C:p.Q26P;ENSG00000141380:ENST00000269137:exon2:c.A146C:p.Q49P;ENSG00000141380:ENST00000581021:exon2:c.A77C:p.Q26P;ENSG00000141380:ENST00000542420:exon2:c.A77C:p.Q26P;	0.358318492936365	0.626
18	23667466	G	A	18	26087502	y	y	exonic	SS18	stopgain SNV	SS18:NM_001007559:exon2:c.C145T:p.Q49X;SS18:NM_005637:exon2:c.C145T:p.Q49X;	exonic	ENSG00000141380	stopgain SNV	ENSG00000141380:ENST00000584083:exon2:c.C76T:p.Q26X;ENSG00000141380:ENST00000579640:exon2:c.C145T:p.Q49X;ENSG00000141380:ENST00000579061:exon2:c.C76T:p.Q26X;ENSG00000141380:ENST00000581570:exon2:c.C145T:p.Q49X;ENSG00000141380:ENST00000578954:exon2:c.C145T:p.Q49X;ENSG00000141380:ENST00000580642:exon2:c.C145T:p.Q49X;ENSG00000141380:ENST00000585121:exon2:c.C145T:p.Q49X;ENSG00000141380:ENST00000580751:exon2:c.C145T:p.Q49X;ENSG00000141380:ENST00000415083:exon2:c.C145T:p.Q49X;ENSG00000141380:ENST00000577636:exon2:c.C76T:p.Q26X;ENSG00000141380:ENST00000582448:exon2:c.C76T:p.Q26X;ENSG00000141380:ENST00000269137:exon2:c.C145T:p.Q49X;ENSG00000141380:ENST00000581021:exon2:c.C76T:p.Q26X;ENSG00000141380:ENST00000542420:exon2:c.C76T:p.Q26X;	0.99296546642599	0.804
18	23667466	G	C	18	26087502	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.C145G:p.Q49E;SS18:NM_005637:exon2:c.C145G:p.Q49E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.C76G:p.Q26E;ENSG00000141380:ENST00000579640:exon2:c.C145G:p.Q49E;ENSG00000141380:ENST00000577572:exon2:c.C145G:p.H49D;ENSG00000141380:ENST00000579061:exon2:c.C76G:p.Q26E;ENSG00000141380:ENST00000581570:exon2:c.C145G:p.Q49E;ENSG00000141380:ENST00000269138:exon2:c.C145G:p.H49D;ENSG00000141380:ENST00000578700:exon2:c.C76G:p.H26D;ENSG00000141380:ENST00000578954:exon2:c.C145G:p.Q49E;ENSG00000141380:ENST00000582792:exon2:c.C145G:p.H49D;ENSG00000141380:ENST00000580642:exon2:c.C145G:p.Q49E;ENSG00000141380:ENST00000585121:exon2:c.C145G:p.Q49E;ENSG00000141380:ENST00000580751:exon2:c.C145G:p.Q49E;ENSG00000141380:ENST00000415083:exon2:c.C145G:p.Q49E;ENSG00000141380:ENST00000577636:exon2:c.C76G:p.Q26E;ENSG00000141380:ENST00000582448:exon2:c.C76G:p.Q26E;ENSG00000141380:ENST00000269137:exon2:c.C145G:p.Q49E;ENSG00000141380:ENST00000581021:exon2:c.C76G:p.Q26E;ENSG00000141380:ENST00000542420:exon2:c.C76G:p.Q26E;	0.98464305517282	0.636
18	23667466	G	T	18	26087502	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.C145A:p.Q49K;SS18:NM_005637:exon2:c.C145A:p.Q49K;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.C76A:p.Q26K;ENSG00000141380:ENST00000579640:exon2:c.C145A:p.Q49K;ENSG00000141380:ENST00000577572:exon2:c.C145A:p.H49N;ENSG00000141380:ENST00000579061:exon2:c.C76A:p.Q26K;ENSG00000141380:ENST00000581570:exon2:c.C145A:p.Q49K;ENSG00000141380:ENST00000269138:exon2:c.C145A:p.H49N;ENSG00000141380:ENST00000578700:exon2:c.C76A:p.H26N;ENSG00000141380:ENST00000578954:exon2:c.C145A:p.Q49K;ENSG00000141380:ENST00000582792:exon2:c.C145A:p.H49N;ENSG00000141380:ENST00000580642:exon2:c.C145A:p.Q49K;ENSG00000141380:ENST00000585121:exon2:c.C145A:p.Q49K;ENSG00000141380:ENST00000580751:exon2:c.C145A:p.Q49K;ENSG00000141380:ENST00000415083:exon2:c.C145A:p.Q49K;ENSG00000141380:ENST00000577636:exon2:c.C76A:p.Q26K;ENSG00000141380:ENST00000582448:exon2:c.C76A:p.Q26K;ENSG00000141380:ENST00000269137:exon2:c.C145A:p.Q49K;ENSG00000141380:ENST00000581021:exon2:c.C76A:p.Q26K;ENSG00000141380:ENST00000542420:exon2:c.C76A:p.Q26K;	0.972710145597143	0.578
18	23667467	A	C	18	26087503	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon2:c.T144G:p.S48S;SS18:NM_005637:exon2:c.T144G:p.S48S;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.T75G:p.S25S;ENSG00000141380:ENST00000579640:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000577572:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000579061:exon2:c.T75G:p.S25S;ENSG00000141380:ENST00000581570:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000269138:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000578700:exon2:c.T75G:p.S25S;ENSG00000141380:ENST00000578954:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000582792:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000580642:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000585121:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000580751:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000415083:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000577636:exon2:c.T75G:p.S25S;ENSG00000141380:ENST00000582448:exon2:c.T75G:p.S25S;ENSG00000141380:ENST00000269137:exon2:c.T144G:p.S48S;ENSG00000141380:ENST00000581021:exon2:c.T75G:p.S25S;ENSG00000141380:ENST00000542420:exon2:c.T75G:p.S25S;	0.00107865812444492	0.118
18	23667467	A	G	18	26087503	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon2:c.T144C:p.S48S;SS18:NM_005637:exon2:c.T144C:p.S48S;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.T75C:p.S25S;ENSG00000141380:ENST00000579640:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000577572:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000579061:exon2:c.T75C:p.S25S;ENSG00000141380:ENST00000581570:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000269138:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000578700:exon2:c.T75C:p.S25S;ENSG00000141380:ENST00000578954:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000582792:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000580642:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000585121:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000580751:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000415083:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000577636:exon2:c.T75C:p.S25S;ENSG00000141380:ENST00000582448:exon2:c.T75C:p.S25S;ENSG00000141380:ENST00000269137:exon2:c.T144C:p.S48S;ENSG00000141380:ENST00000581021:exon2:c.T75C:p.S25S;ENSG00000141380:ENST00000542420:exon2:c.T75C:p.S25S;	3.72252836072619E-4	0.068
18	23667467	A	T	18	26087503	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon2:c.T144A:p.S48S;SS18:NM_005637:exon2:c.T144A:p.S48S;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.T75A:p.S25S;ENSG00000141380:ENST00000579640:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000577572:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000579061:exon2:c.T75A:p.S25S;ENSG00000141380:ENST00000581570:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000269138:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000578700:exon2:c.T75A:p.S25S;ENSG00000141380:ENST00000578954:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000582792:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000580642:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000585121:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000580751:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000415083:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000577636:exon2:c.T75A:p.S25S;ENSG00000141380:ENST00000582448:exon2:c.T75A:p.S25S;ENSG00000141380:ENST00000269137:exon2:c.T144A:p.S48S;ENSG00000141380:ENST00000581021:exon2:c.T75A:p.S25S;ENSG00000141380:ENST00000542420:exon2:c.T75A:p.S25S;	3.72252836072619E-4	0.134
18	23667540	A	C	18	26087576	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.T71G:p.M24R;SS18:NM_005637:exon2:c.T71G:p.M24R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.T2G:p.M1R;ENSG00000141380:ENST00000579640:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000577572:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000579061:exon2:c.T2G:p.M1R;ENSG00000141380:ENST00000581570:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000269138:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000578700:exon2:c.T2G:p.M1R;ENSG00000141380:ENST00000578954:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000582792:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000580642:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000585121:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000580751:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000415083:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000577636:exon2:c.T2G:p.M1R;ENSG00000141380:ENST00000582448:exon2:c.T2G:p.M1R;ENSG00000141380:ENST00000269137:exon2:c.T71G:p.M24R;ENSG00000141380:ENST00000581021:exon2:c.T2G:p.M1R;ENSG00000141380:ENST00000542420:exon2:c.T2G:p.M1R;	0.0742648113221982	0.28
18	23667540	A	G	18	26087576	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.T71C:p.M24T;SS18:NM_005637:exon2:c.T71C:p.M24T;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.T2C:p.M1T;ENSG00000141380:ENST00000579640:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000577572:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000579061:exon2:c.T2C:p.M1T;ENSG00000141380:ENST00000581570:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000269138:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000578700:exon2:c.T2C:p.M1T;ENSG00000141380:ENST00000578954:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000582792:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000580642:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000585121:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000580751:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000415083:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000577636:exon2:c.T2C:p.M1T;ENSG00000141380:ENST00000582448:exon2:c.T2C:p.M1T;ENSG00000141380:ENST00000269137:exon2:c.T71C:p.M24T;ENSG00000141380:ENST00000581021:exon2:c.T2C:p.M1T;ENSG00000141380:ENST00000542420:exon2:c.T2C:p.M1T;	0.0177819976062754	0.184
18	23667540	A	T	18	26087576	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.T71A:p.M24K;SS18:NM_005637:exon2:c.T71A:p.M24K;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.T2A:p.M1K;ENSG00000141380:ENST00000579640:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000577572:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000579061:exon2:c.T2A:p.M1K;ENSG00000141380:ENST00000581570:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000269138:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000578700:exon2:c.T2A:p.M1K;ENSG00000141380:ENST00000578954:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000582792:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000580642:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000585121:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000580751:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000415083:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000577636:exon2:c.T2A:p.M1K;ENSG00000141380:ENST00000582448:exon2:c.T2A:p.M1K;ENSG00000141380:ENST00000269137:exon2:c.T71A:p.M24K;ENSG00000141380:ENST00000581021:exon2:c.T2A:p.M1K;ENSG00000141380:ENST00000542420:exon2:c.T2A:p.M1K;	0.588695305846993	0.456
18	23667541	T	A	18	26087577	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.A70T:p.M24L;SS18:NM_005637:exon2:c.A70T:p.M24L;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.A1T:p.M1L;ENSG00000141380:ENST00000579640:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000577572:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000579061:exon2:c.A1T:p.M1L;ENSG00000141380:ENST00000581570:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000269138:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000578700:exon2:c.A1T:p.M1L;ENSG00000141380:ENST00000578954:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000582792:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000580642:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000585121:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000580751:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000415083:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000577636:exon2:c.A1T:p.M1L;ENSG00000141380:ENST00000582448:exon2:c.A1T:p.M1L;ENSG00000141380:ENST00000269137:exon2:c.A70T:p.M24L;ENSG00000141380:ENST00000581021:exon2:c.A1T:p.M1L;ENSG00000141380:ENST00000542420:exon2:c.A1T:p.M1L;	0.113595269643235	0.382
18	23667541	T	C	18	26087577	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.A70G:p.M24V;SS18:NM_005637:exon2:c.A70G:p.M24V;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.A1G:p.M1V;ENSG00000141380:ENST00000579640:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000577572:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000579061:exon2:c.A1G:p.M1V;ENSG00000141380:ENST00000581570:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000269138:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000578700:exon2:c.A1G:p.M1V;ENSG00000141380:ENST00000578954:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000582792:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000580642:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000585121:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000580751:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000415083:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000577636:exon2:c.A1G:p.M1V;ENSG00000141380:ENST00000582448:exon2:c.A1G:p.M1V;ENSG00000141380:ENST00000269137:exon2:c.A70G:p.M24V;ENSG00000141380:ENST00000581021:exon2:c.A1G:p.M1V;ENSG00000141380:ENST00000542420:exon2:c.A1G:p.M1V;	0.0014492181841458	0.008
18	23667541	T	G	18	26087577	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon2:c.A70C:p.M24L;SS18:NM_005637:exon2:c.A70C:p.M24L;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000584083:exon2:c.A1C:p.M1L;ENSG00000141380:ENST00000579640:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000577572:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000579061:exon2:c.A1C:p.M1L;ENSG00000141380:ENST00000581570:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000269138:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000578700:exon2:c.A1C:p.M1L;ENSG00000141380:ENST00000578954:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000582792:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000580642:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000585121:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000580751:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000415083:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000577636:exon2:c.A1C:p.M1L;ENSG00000141380:ENST00000582448:exon2:c.A1C:p.M1L;ENSG00000141380:ENST00000269137:exon2:c.A70C:p.M24L;ENSG00000141380:ENST00000581021:exon2:c.A1C:p.M1L;ENSG00000141380:ENST00000542420:exon2:c.A1C:p.M1L;	0.0437063567319503	0.318
18	23667542	C	A	18	26087578	y	y	splicing	SS18(NM_005637:exon3:c.70-1G>T;NM_001007559:exon3:c.70-1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.70-1G>T;ENST00000579640:exon3:c.70-1G>T;ENST00000269138:exon3:c.70-1G>T;ENST00000269137:exon3:c.70-1G>T;ENST00000585121:exon3:c.70-1G>T;ENST00000578954:exon3:c.70-1G>T;ENST00000582792:exon3:c.70-1G>T;ENST00000577572:exon3:c.70-1G>T;ENST00000581570:exon3:c.70-1G>T;ENST00000580751:exon3:c.70-1G>T;ENST00000580642:exon3:c.70-1G>T)	.	.	0.999990361384395	0.938
18	23667542	C	G	18	26087578	y	y	splicing	SS18(NM_005637:exon3:c.70-1G>C;NM_001007559:exon3:c.70-1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.70-1G>C;ENST00000579640:exon3:c.70-1G>C;ENST00000269138:exon3:c.70-1G>C;ENST00000269137:exon3:c.70-1G>C;ENST00000585121:exon3:c.70-1G>C;ENST00000578954:exon3:c.70-1G>C;ENST00000582792:exon3:c.70-1G>C;ENST00000577572:exon3:c.70-1G>C;ENST00000581570:exon3:c.70-1G>C;ENST00000580751:exon3:c.70-1G>C;ENST00000580642:exon3:c.70-1G>C)	.	.	0.999990361384395	0.938
18	23667542	C	T	18	26087578	y	y	splicing	SS18(NM_005637:exon3:c.70-1G>A;NM_001007559:exon3:c.70-1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.70-1G>A;ENST00000579640:exon3:c.70-1G>A;ENST00000269138:exon3:c.70-1G>A;ENST00000269137:exon3:c.70-1G>A;ENST00000585121:exon3:c.70-1G>A;ENST00000578954:exon3:c.70-1G>A;ENST00000582792:exon3:c.70-1G>A;ENST00000577572:exon3:c.70-1G>A;ENST00000581570:exon3:c.70-1G>A;ENST00000580751:exon3:c.70-1G>A;ENST00000580642:exon3:c.70-1G>A)	.	.	0.999990361384395	0.938
18	23667543	T	A	18	26087579	y	y	splicing	SS18(NM_005637:exon3:c.70-2A>T;NM_001007559:exon3:c.70-2A>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.70-2A>T;ENST00000579640:exon3:c.70-2A>T;ENST00000269138:exon3:c.70-2A>T;ENST00000269137:exon3:c.70-2A>T;ENST00000585121:exon3:c.70-2A>T;ENST00000578954:exon3:c.70-2A>T;ENST00000582792:exon3:c.70-2A>T;ENST00000577572:exon3:c.70-2A>T;ENST00000581570:exon3:c.70-2A>T;ENST00000580751:exon3:c.70-2A>T;ENST00000580642:exon3:c.70-2A>T)	.	.	0.999988247793601	0.932
18	23667543	T	C	18	26087579	y	y	splicing	SS18(NM_005637:exon3:c.70-2A>G;NM_001007559:exon3:c.70-2A>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.70-2A>G;ENST00000579640:exon3:c.70-2A>G;ENST00000269138:exon3:c.70-2A>G;ENST00000269137:exon3:c.70-2A>G;ENST00000585121:exon3:c.70-2A>G;ENST00000578954:exon3:c.70-2A>G;ENST00000582792:exon3:c.70-2A>G;ENST00000577572:exon3:c.70-2A>G;ENST00000581570:exon3:c.70-2A>G;ENST00000580751:exon3:c.70-2A>G;ENST00000580642:exon3:c.70-2A>G)	.	.	0.999988247793601	0.932
18	23667543	T	G	18	26087579	y	y	splicing	SS18(NM_005637:exon3:c.70-2A>C;NM_001007559:exon3:c.70-2A>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon3:c.70-2A>C;ENST00000579640:exon3:c.70-2A>C;ENST00000269138:exon3:c.70-2A>C;ENST00000269137:exon3:c.70-2A>C;ENST00000585121:exon3:c.70-2A>C;ENST00000578954:exon3:c.70-2A>C;ENST00000582792:exon3:c.70-2A>C;ENST00000577572:exon3:c.70-2A>C;ENST00000581570:exon3:c.70-2A>C;ENST00000580751:exon3:c.70-2A>C;ENST00000580642:exon3:c.70-2A>C)	.	.	0.999988247793601	0.932
18	23667544	G	A	18	26087580	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.971885109597346	0.328
18	23667544	G	C	18	26087580	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999874572047731	0.976
18	23667544	G	T	18	26087580	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999420376335696	0.886
18	23667545	A	C	18	26087581	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.73571811150798E-5	0.004
18	23667545	A	G	18	26087581	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.1448665978115E-5	0.002
18	23667545	A	T	18	26087581	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.01141425580863E-5	0.006
18	23667546	A	C	18	26087582	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.990435035870771	0.862
18	23667546	A	G	18	26087582	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.362951943581746	0.434
18	23667546	A	T	18	26087582	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.995569061746156	0.878
18	23667547	A	C	18	26087583	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.930373627285235	0.704
18	23667547	A	G	18	26087583	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.0091905347976437	0.164
18	23667547	A	T	18	26087583	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.921481075127151	0.692
18	23667548	C	A	18	26087584	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.35031423102131E-5	0.0
18	23667548	C	G	18	26087584	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.35031423102131E-5	0.0
18	23667548	C	T	18	26087584	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.33141600191487E-5	0.002
18	23667549	A	C	18	26087585	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00205957113199976	0.166
18	23667549	A	G	18	26087585	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.59610447074089E-5	0.0
18	23667549	A	T	18	26087585	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999916086734953	0.99
18	23667550	G	A	18	26087586	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.1814702336248E-4	0.046
18	23667550	G	C	18	26087586	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	3.11215814276951E-4	0.046
18	23667550	G	T	18	26087586	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.6118844563422E-4	0.092
18	23667551	A	C	18	26087587	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.388708912000277	0.564
18	23667551	A	G	18	26087587	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	9.09859608152127E-4	0.038
18	23667551	A	T	18	26087587	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.719760203506557	0.586
18	23667552	A	C	18	26087588	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999717709914449	0.948
18	23667552	A	G	18	26087588	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.605072736506122	0.362
18	23667552	A	T	18	26087588	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.989667145868551	0.864
18	23667553	T	A	18	26087589	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.6732677504364E-5	0.086
18	23667553	T	C	18	26087589	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.98680932164103	0.808
18	23667553	T	G	18	26087589	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.20263032764876E-4	0.086
18	23669714	C	A	18	26089750	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.99988029025968E-5	0.0
18	23669714	C	G	18	26089750	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.99988029025968E-5	0.0
18	23669714	C	T	18	26089750	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	8.99988029025968E-5	0.0
18	23669715	G	A	18	26089751	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.24453633365032E-5	0.0
18	23669715	G	C	18	26089751	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.5364181533214E-5	0.0
18	23669715	G	T	18	26089751	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.24453633365032E-5	0.0
18	23669716	A	C	18	26089752	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.40039963772197E-5	0.0
18	23669716	A	G	18	26089752	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	4.40039963772197E-5	0.0
18	23669716	A	T	18	26089752	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.32453383485143E-5	0.0
18	23669717	C	A	18	26089753	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.24453633365032E-5	0.0
18	23669717	C	G	18	26089753	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.5364181533214E-5	0.0
18	23669717	C	T	18	26089753	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.24453633365032E-5	0.0
18	23669718	T	A	18	26089754	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00117003785474806	0.052
18	23669718	T	C	18	26089754	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00166922796589821	0.052
18	23669718	T	G	18	26089754	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00166922796589821	0.04
18	23669719	T	A	18	26089755	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.23008612738095E-4	0.022
18	23669719	T	C	18	26089755	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.36222343811113E-4	0.02
18	23669719	T	G	18	26089755	n	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.36222343811113E-4	0.02
18	23669720	A	C	18	26089756	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	4.14301101535901E-5	0.002
18	23669720	A	G	18	26089756	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	4.14301101535901E-5	0.002
18	23669720	A	T	18	26089756	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	4.47039489069415E-5	0.002
18	23669721	C	A	18	26089757	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	6.38113264713725E-5	0.016
18	23669721	C	G	18	26089757	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	8.53292460361593E-5	0.01
18	23669721	C	T	18	26089757	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	6.38113264713725E-5	0.004
18	23669722	A	C	18	26089758	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	6.77993525610891E-5	0.0
18	23669722	A	G	18	26089758	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	6.77993525610891E-5	0.0
18	23669722	A	T	18	26089758	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	7.48293208623238E-5	0.0
18	23669723	T	A	18	26089759	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	5.03997877173435E-5	0.0
18	23669723	T	C	18	26089759	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	6.7395485643605E-5	0.008
18	23669723	T	G	18	26089759	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	6.7395485643605E-5	0.01
18	23669724	T	A	18	26089760	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	9.21585938585243E-5	0.002
18	23669724	T	C	18	26089760	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	8.3500733371869E-5	0.002
18	23669724	T	G	18	26089760	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	8.3500733371869E-5	0.002
18	23669781	T	A	18	26089817	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	1.34483591289536E-4	0.002
18	23669781	T	C	18	26089817	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	9.59269567947512E-5	0.016
18	23669781	T	G	18	26089817	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	9.59269567947512E-5	0.014
18	23669782	G	A	18	26089818	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	5.80618050512278E-5	0.0
18	23669782	G	C	18	26089818	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	8.25367971132387E-5	0.012
18	23669782	G	T	18	26089818	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	7.51348127203013E-5	0.0
18	23669783	A	C	18	26089819	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	6.41475706302981E-5	0.0
18	23669783	A	G	18	26089819	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	6.41475706302981E-5	0.0
18	23669783	A	T	18	26089819	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	6.41475706302981E-5	0.0
18	23669784	C	A	18	26089820	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.0238172203787368	0.046
18	23669784	C	G	18	26089820	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.0176056264307427	0.034
18	23669784	C	T	18	26089820	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.0238172203787368	0.088
18	23669785	T	A	18	26089821	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	1.21662807230942E-4	0.006
18	23669785	T	C	18	26089821	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	1.34502669094326E-4	0.0
18	23669785	T	G	18	26089821	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	1.34502669094326E-4	0.0
18	23669786	C	A	18	26089822	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.0217732691511176	0.05
18	23669786	C	G	18	26089822	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.0160859589576281	0.038
18	23669786	C	T	18	26089822	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.0217732691511176	0.09
18	23669787	A	C	18	26089823	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	5.72280560063657E-4	0.03
18	23669787	A	G	18	26089823	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	5.72280560063657E-4	0.028
18	23669787	A	T	18	26089823	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	5.72280560063657E-4	0.086
18	23669788	C	A	18	26089824	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	9.74925866171648E-5	0.0
18	23669788	C	G	18	26089824	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	7.2931371955823E-5	0.0
18	23669788	C	T	18	26089824	n	y	intronic	SS18	.	.	splicing	ENSG00000141380	.	.	1.16614612872301E-4	0.0
18	23669789	C	A	18	26089825	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.00127265193793032	0.002
18	23669789	C	G	18	26089825	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.00106416900301642	0.002
18	23669789	C	T	18	26089825	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.00127265193793032	0.002
18	23669790	A	C	18	26089826	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.00115202640557102	0.004
18	23669790	A	G	18	26089826	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.00115202640557102	0.004
18	23669790	A	T	18	26089826	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	0.00104523135912088	0.002
18	23669791	C	A	18	26089827	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	1.46226529156369E-4	0.004
18	23669791	C	G	18	26089827	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	1.15928322694241E-4	0.004
18	23669791	C	T	18	26089827	n	y	intronic	SS18	.	.	UTR5	ENSG00000141380	.	.	1.46226529156369E-4	0.002
18	23670457	G	A	18	26090493	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	1.13790411421967E-4	0.042
18	23670457	G	C	18	26090493	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	7.0224831035896E-5	0.14
18	23670457	G	T	18	26090493	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.90132748298647E-5	0.056
18	23670458	G	A	18	26090494	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.512562523917316	0.478
18	23670458	G	C	18	26090494	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.496129208393889	0.556
18	23670458	G	T	18	26090494	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.899373304827535	0.822
18	23670459	T	A	18	26090495	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	2.28895103225926E-4	0.098
18	23670459	T	C	18	26090495	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	5.27429573090066E-5	0.118
18	23670459	T	G	18	26090495	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.64941429119507E-4	0.068
18	23670460	T	A	18	26090496	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00523252355791282	0.092
18	23670460	T	C	18	26090496	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	6.77428773653023E-4	0.052
18	23670460	T	G	18	26090496	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.00252209753242219	0.126
18	23670461	T	A	18	26090497	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999893722772798	0.958
18	23670461	T	C	18	26090497	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999893722772798	0.988
18	23670461	T	G	18	26090497	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999299004648264	0.904
18	23670462	C	A	18	26090498	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.99885861969042	0.882
18	23670462	C	G	18	26090498	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.999618217710083	0.852
18	23670462	C	T	18	26090498	y	y	intronic	SS18	.	.	intronic	ENSG00000141380	.	.	0.276923423395852	0.362
18	23670463	A	C	18	26090499	y	y	splicing	SS18(NM_005637:exon2:c.69+2T>G;NM_001007559:exon2:c.69+2T>G)	.	.	splicing	ENSG00000141380(ENST00000415083:exon2:c.69+2T>G;ENST00000579640:exon2:c.69+2T>G;ENST00000269138:exon2:c.69+2T>G;ENST00000269137:exon2:c.69+2T>G;ENST00000585121:exon2:c.69+2T>G;ENST00000539244:exon2:c.69+2T>G;ENST00000578954:exon2:c.69+2T>G;ENST00000582792:exon2:c.69+2T>G;ENST00000577572:exon2:c.69+2T>G;ENST00000581570:exon2:c.69+2T>G;ENST00000580751:exon2:c.69+2T>G;ENST00000580642:exon2:c.69+2T>G)	.	.	0.999988893522493	0.936
18	23670463	A	G	18	26090499	y	y	splicing	SS18(NM_005637:exon2:c.69+2T>C;NM_001007559:exon2:c.69+2T>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon2:c.69+2T>C;ENST00000579640:exon2:c.69+2T>C;ENST00000269138:exon2:c.69+2T>C;ENST00000269137:exon2:c.69+2T>C;ENST00000585121:exon2:c.69+2T>C;ENST00000539244:exon2:c.69+2T>C;ENST00000578954:exon2:c.69+2T>C;ENST00000582792:exon2:c.69+2T>C;ENST00000577572:exon2:c.69+2T>C;ENST00000581570:exon2:c.69+2T>C;ENST00000580751:exon2:c.69+2T>C;ENST00000580642:exon2:c.69+2T>C)	.	.	0.99994314140754	0.87
18	23670463	A	T	18	26090499	y	y	splicing	SS18(NM_005637:exon2:c.69+2T>A;NM_001007559:exon2:c.69+2T>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon2:c.69+2T>A;ENST00000579640:exon2:c.69+2T>A;ENST00000269138:exon2:c.69+2T>A;ENST00000269137:exon2:c.69+2T>A;ENST00000585121:exon2:c.69+2T>A;ENST00000539244:exon2:c.69+2T>A;ENST00000578954:exon2:c.69+2T>A;ENST00000582792:exon2:c.69+2T>A;ENST00000577572:exon2:c.69+2T>A;ENST00000581570:exon2:c.69+2T>A;ENST00000580751:exon2:c.69+2T>A;ENST00000580642:exon2:c.69+2T>A)	.	.	0.999988893522493	0.936
18	23670464	C	A	18	26090500	y	y	splicing	SS18(NM_005637:exon2:c.69+1G>T;NM_001007559:exon2:c.69+1G>T)	.	.	splicing	ENSG00000141380(ENST00000415083:exon2:c.69+1G>T;ENST00000579640:exon2:c.69+1G>T;ENST00000269138:exon2:c.69+1G>T;ENST00000269137:exon2:c.69+1G>T;ENST00000585121:exon2:c.69+1G>T;ENST00000539244:exon2:c.69+1G>T;ENST00000578954:exon2:c.69+1G>T;ENST00000582792:exon2:c.69+1G>T;ENST00000577572:exon2:c.69+1G>T;ENST00000581570:exon2:c.69+1G>T;ENST00000580751:exon2:c.69+1G>T;ENST00000580642:exon2:c.69+1G>T)	.	.	0.999984967332678	0.95
18	23670464	C	G	18	26090500	y	y	splicing	SS18(NM_005637:exon2:c.69+1G>C;NM_001007559:exon2:c.69+1G>C)	.	.	splicing	ENSG00000141380(ENST00000415083:exon2:c.69+1G>C;ENST00000579640:exon2:c.69+1G>C;ENST00000269138:exon2:c.69+1G>C;ENST00000269137:exon2:c.69+1G>C;ENST00000585121:exon2:c.69+1G>C;ENST00000539244:exon2:c.69+1G>C;ENST00000578954:exon2:c.69+1G>C;ENST00000582792:exon2:c.69+1G>C;ENST00000577572:exon2:c.69+1G>C;ENST00000581570:exon2:c.69+1G>C;ENST00000580751:exon2:c.69+1G>C;ENST00000580642:exon2:c.69+1G>C)	.	.	0.999984967332678	0.95
18	23670464	C	T	18	26090500	y	y	splicing	SS18(NM_005637:exon2:c.69+1G>A;NM_001007559:exon2:c.69+1G>A)	.	.	splicing	ENSG00000141380(ENST00000415083:exon2:c.69+1G>A;ENST00000579640:exon2:c.69+1G>A;ENST00000269138:exon2:c.69+1G>A;ENST00000269137:exon2:c.69+1G>A;ENST00000585121:exon2:c.69+1G>A;ENST00000539244:exon2:c.69+1G>A;ENST00000578954:exon2:c.69+1G>A;ENST00000582792:exon2:c.69+1G>A;ENST00000577572:exon2:c.69+1G>A;ENST00000581570:exon2:c.69+1G>A;ENST00000580751:exon2:c.69+1G>A;ENST00000580642:exon2:c.69+1G>A)	.	.	0.999984967332678	0.95
18	23670465	C	A	18	26090501	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon1:c.G69T:p.K23N;SS18:NM_005637:exon1:c.G69T:p.K23N;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000577572:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000581570:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000269138:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000578954:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000582792:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000580642:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000585121:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000580751:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000415083:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000269137:exon1:c.G69T:p.K23N;ENSG00000141380:ENST00000539244:exon1:c.G69T:p.K23N;	0.999988292101478	0.996
18	23670465	C	G	18	26090501	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon1:c.G69C:p.K23N;SS18:NM_005637:exon1:c.G69C:p.K23N;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000577572:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000581570:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000269138:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000578954:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000582792:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000580642:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000585121:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000580751:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000415083:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000269137:exon1:c.G69C:p.K23N;ENSG00000141380:ENST00000539244:exon1:c.G69C:p.K23N;	0.999997577404125	1.0
18	23670465	C	T	18	26090501	y	y	exonic	SS18	synonymous SNV	SS18:NM_001007559:exon1:c.G69A:p.K23K;SS18:NM_005637:exon1:c.G69A:p.K23K;	exonic	ENSG00000141380	synonymous SNV	ENSG00000141380:ENST00000579640:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000577572:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000581570:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000269138:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000578954:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000582792:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000580642:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000585121:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000580751:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000415083:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000269137:exon1:c.G69A:p.K23K;ENSG00000141380:ENST00000539244:exon1:c.G69A:p.K23K;	0.999997314198704	1.0
18	23670466	T	A	18	26090502	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon1:c.A68T:p.K23M;SS18:NM_005637:exon1:c.A68T:p.K23M;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000577572:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000581570:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000269138:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000578954:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000582792:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000580642:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000585121:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000580751:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000415083:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000269137:exon1:c.A68T:p.K23M;ENSG00000141380:ENST00000539244:exon1:c.A68T:p.K23M;	0.999945091686572	1.0
18	23670466	T	C	18	26090502	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon1:c.A68G:p.K23R;SS18:NM_005637:exon1:c.A68G:p.K23R;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000577572:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000581570:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000269138:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000578954:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000582792:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000580642:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000585121:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000580751:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000415083:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000269137:exon1:c.A68G:p.K23R;ENSG00000141380:ENST00000539244:exon1:c.A68G:p.K23R;	0.999961522189141	0.998
18	23670466	T	G	18	26090502	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon1:c.A68C:p.K23T;SS18:NM_005637:exon1:c.A68C:p.K23T;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000577572:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000581570:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000269138:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000578954:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000582792:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000580642:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000585121:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000580751:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000415083:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000269137:exon1:c.A68C:p.K23T;ENSG00000141380:ENST00000539244:exon1:c.A68C:p.K23T;	0.999838519727677	0.998
18	23670467	T	A	18	26090503	y	y	exonic	SS18	stopgain SNV	SS18:NM_001007559:exon1:c.A67T:p.K23X;SS18:NM_005637:exon1:c.A67T:p.K23X;	exonic	ENSG00000141380	stopgain SNV	ENSG00000141380:ENST00000579640:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000577572:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000581570:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000269138:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000578954:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000582792:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000580642:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000585121:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000580751:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000415083:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000269137:exon1:c.A67T:p.K23X;ENSG00000141380:ENST00000539244:exon1:c.A67T:p.K23X;	0.989681549760506	0.856
18	23670467	T	C	18	26090503	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon1:c.A67G:p.K23E;SS18:NM_005637:exon1:c.A67G:p.K23E;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000577572:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000581570:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000269138:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000578954:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000582792:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000580642:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000585121:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000580751:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000415083:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000269137:exon1:c.A67G:p.K23E;ENSG00000141380:ENST00000539244:exon1:c.A67G:p.K23E;	0.40751730165327	0.404
18	23670467	T	G	18	26090503	y	y	exonic	SS18	nonsynonymous SNV	SS18:NM_001007559:exon1:c.A67C:p.K23Q;SS18:NM_005637:exon1:c.A67C:p.K23Q;	exonic	ENSG00000141380	nonsynonymous SNV	ENSG00000141380:ENST00000579640:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000577572:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000581570:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000269138:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000578954:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000582792:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000580642:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000585121:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000580751:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000415083:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000269137:exon1:c.A67C:p.K23Q;ENSG00000141380:ENST00000539244:exon1:c.A67C:p.K23Q;	0.181315161239944	0.486
18	23671052	T	A	18	26091088	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.2331471065878E-4	0.002
18	23671052	T	C	18	26091088	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.35462544897784E-4	0.012
18	23671052	T	G	18	26091088	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.35462544897784E-4	0.006
18	23671053	T	A	18	26091089	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	9.73186234223837E-5	0.06
18	23671053	T	C	18	26091089	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.38902716199852E-4	0.026
18	23671053	T	G	18	26091089	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.38902716199852E-4	0.026
18	23671054	A	C	18	26091090	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.41795582985821E-4	0.002
18	23671054	A	G	18	26091090	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.41795582985821E-4	0.002
18	23671054	A	T	18	26091090	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.98784870003065E-4	0.002
18	23671055	C	A	18	26091091	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.33455444595138E-4	0.008
18	23671055	C	G	18	26091091	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	7.47645184142865E-5	0.012
18	23671055	C	T	18	26091091	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.46413180592529E-4	0.006
18	23671056	T	A	18	26091092	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	7.04278140930798E-5	0.01
18	23671056	T	C	18	26091092	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	7.04278140930798E-5	0.01
18	23671056	T	G	18	26091092	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	7.04278140930798E-5	0.01
18	23671057	T	A	18	26091093	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.00925306948278E-4	0.002
18	23671057	T	C	18	26091093	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	5.5529151830241E-5	0.002
18	23671057	T	G	18	26091093	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	5.5529151830241E-5	0.002
18	23671058	A	C	18	26091094	n	y	upstream	SS18	.	.	splicing	ENSG00000141380	.	.	6.12869275217467E-5	0.002
18	23671058	A	G	18	26091094	n	y	upstream	SS18	.	.	splicing	ENSG00000141380	.	.	6.12869275217467E-5	0.002
18	23671058	A	T	18	26091094	n	y	upstream	SS18	.	.	splicing	ENSG00000141380	.	.	1.2709332397549E-4	0.002
18	23671059	C	A	18	26091095	n	y	upstream	SS18	.	.	splicing	ENSG00000141380	.	.	6.96737020304725E-5	0.0
18	23671059	C	G	18	26091095	n	y	upstream	SS18	.	.	splicing	ENSG00000141380	.	.	4.84767321715395E-5	0.0
18	23671059	C	T	18	26091095	n	y	upstream	SS18	.	.	splicing	ENSG00000141380	.	.	6.96737020304725E-5	0.0
18	23671060	G	A	18	26091096	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	6.12869275217467E-5	0.0
18	23671060	G	C	18	26091096	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	6.12869275217467E-5	0.0
18	23671060	G	T	18	26091096	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	6.12869275217467E-5	0.0
18	23671061	C	A	18	26091097	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.40940918270023E-4	0.0
18	23671061	C	G	18	26091097	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.19426765899064E-4	0.0
18	23671061	C	T	18	26091097	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.40940918270023E-4	0.0
18	23671062	C	A	18	26091098	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.46413180592529E-4	0.068
18	23671062	C	G	18	26091098	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.46413180592529E-4	0.006
18	23671062	C	T	18	26091098	n	y	upstream	SS18	.	.	UTR5	ENSG00000141380	.	.	1.46413180592529E-4	0.004
18	23714029	G	A	18	26134065	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon1:c.G100A:p.A34T;PSMA8:NM_001025096:exon1:c.G100A:p.A34T;PSMA8:NM_144662:exon1:c.G100A:p.A34T;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.G100A:p.A34T;ENSG00000154611:ENST00000308268:exon1:c.G100A:p.A34T;ENSG00000154611:ENST00000538664:exon1:c.G100A:p.A34T;ENSG00000154611:ENST00000343848:exon1:c.G100A:p.A34T;	0.0932642068358585	0.394
18	23714029	G	C	18	26134065	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon1:c.G100C:p.A34P;PSMA8:NM_001025096:exon1:c.G100C:p.A34P;PSMA8:NM_144662:exon1:c.G100C:p.A34P;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.G100C:p.A34P;ENSG00000154611:ENST00000308268:exon1:c.G100C:p.A34P;ENSG00000154611:ENST00000538664:exon1:c.G100C:p.A34P;ENSG00000154611:ENST00000343848:exon1:c.G100C:p.A34P;	0.0123814268691176	0.25
18	23714029	G	T	18	26134065	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon1:c.G100T:p.A34S;PSMA8:NM_001025096:exon1:c.G100T:p.A34S;PSMA8:NM_144662:exon1:c.G100T:p.A34S;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.G100T:p.A34S;ENSG00000154611:ENST00000308268:exon1:c.G100T:p.A34S;ENSG00000154611:ENST00000538664:exon1:c.G100T:p.A34S;ENSG00000154611:ENST00000343848:exon1:c.G100T:p.A34S;	0.0472888191672076	0.39
18	23714030	C	A	18	26134066	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon1:c.C101A:p.A34E;PSMA8:NM_001025096:exon1:c.C101A:p.A34E;PSMA8:NM_144662:exon1:c.C101A:p.A34E;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.C101A:p.A34E;ENSG00000154611:ENST00000308268:exon1:c.C101A:p.A34E;ENSG00000154611:ENST00000538664:exon1:c.C101A:p.A34E;ENSG00000154611:ENST00000343848:exon1:c.C101A:p.A34E;	0.0360554322227128	0.25
18	23714030	C	G	18	26134066	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon1:c.C101G:p.A34G;PSMA8:NM_001025096:exon1:c.C101G:p.A34G;PSMA8:NM_144662:exon1:c.C101G:p.A34G;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.C101G:p.A34G;ENSG00000154611:ENST00000308268:exon1:c.C101G:p.A34G;ENSG00000154611:ENST00000538664:exon1:c.C101G:p.A34G;ENSG00000154611:ENST00000343848:exon1:c.C101G:p.A34G;	0.101760868600989	0.308
18	23714030	C	T	18	26134066	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon1:c.C101T:p.A34V;PSMA8:NM_001025096:exon1:c.C101T:p.A34V;PSMA8:NM_144662:exon1:c.C101T:p.A34V;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.C101T:p.A34V;ENSG00000154611:ENST00000308268:exon1:c.C101T:p.A34V;ENSG00000154611:ENST00000538664:exon1:c.C101T:p.A34V;ENSG00000154611:ENST00000343848:exon1:c.C101T:p.A34V;	0.68635263638456	0.384
18	23714031	G	A	18	26134067	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025097:exon1:c.G102A:p.A34A;PSMA8:NM_001025096:exon1:c.G102A:p.A34A;PSMA8:NM_144662:exon1:c.G102A:p.A34A;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.G102A:p.A34A;ENSG00000154611:ENST00000308268:exon1:c.G102A:p.A34A;ENSG00000154611:ENST00000538664:exon1:c.G102A:p.A34A;ENSG00000154611:ENST00000343848:exon1:c.G102A:p.A34A;	0.999976197173514	1.0
18	23714031	G	C	18	26134067	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025097:exon1:c.G102C:p.A34A;PSMA8:NM_001025096:exon1:c.G102C:p.A34A;PSMA8:NM_144662:exon1:c.G102C:p.A34A;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.G102C:p.A34A;ENSG00000154611:ENST00000308268:exon1:c.G102C:p.A34A;ENSG00000154611:ENST00000538664:exon1:c.G102C:p.A34A;ENSG00000154611:ENST00000343848:exon1:c.G102C:p.A34A;	0.999978398207551	0.99
18	23714031	G	T	18	26134067	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025097:exon1:c.G102T:p.A34A;PSMA8:NM_001025096:exon1:c.G102T:p.A34A;PSMA8:NM_144662:exon1:c.G102T:p.A34A;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon1:c.G102T:p.A34A;ENSG00000154611:ENST00000308268:exon1:c.G102T:p.A34A;ENSG00000154611:ENST00000538664:exon1:c.G102T:p.A34A;ENSG00000154611:ENST00000343848:exon1:c.G102T:p.A34A;	0.999948186633922	0.956
18	23714032	G	A	18	26134068	y	y	splicing	PSMA8(NM_144662:exon1:c.102+1G>A;NM_001025097:exon1:c.102+1G>A;NM_001025096:exon1:c.102+1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon1:c.102+1G>A;ENST00000415576:exon1:c.102+1G>A;ENST00000343848:exon1:c.102+1G>A;ENST00000308268:exon1:c.102+1G>A)	.	.	0.999990361384395	0.938
18	23714032	G	C	18	26134068	y	y	splicing	PSMA8(NM_144662:exon1:c.102+1G>C;NM_001025097:exon1:c.102+1G>C;NM_001025096:exon1:c.102+1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon1:c.102+1G>C;ENST00000415576:exon1:c.102+1G>C;ENST00000343848:exon1:c.102+1G>C;ENST00000308268:exon1:c.102+1G>C)	.	.	0.999990361384395	0.938
18	23714032	G	T	18	26134068	y	y	splicing	PSMA8(NM_144662:exon1:c.102+1G>T;NM_001025097:exon1:c.102+1G>T;NM_001025096:exon1:c.102+1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon1:c.102+1G>T;ENST00000415576:exon1:c.102+1G>T;ENST00000343848:exon1:c.102+1G>T;ENST00000308268:exon1:c.102+1G>T)	.	.	0.999990361384395	0.938
18	23714033	T	A	18	26134069	y	y	splicing	PSMA8(NM_144662:exon1:c.102+2T>A;NM_001025097:exon1:c.102+2T>A;NM_001025096:exon1:c.102+2T>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon1:c.102+2T>A;ENST00000415576:exon1:c.102+2T>A;ENST00000343848:exon1:c.102+2T>A;ENST00000308268:exon1:c.102+2T>A)	.	.	0.999988247793601	0.93
18	23714033	T	C	18	26134069	y	y	splicing	PSMA8(NM_144662:exon1:c.102+2T>C;NM_001025097:exon1:c.102+2T>C;NM_001025096:exon1:c.102+2T>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon1:c.102+2T>C;ENST00000415576:exon1:c.102+2T>C;ENST00000343848:exon1:c.102+2T>C;ENST00000308268:exon1:c.102+2T>C)	.	.	0.999983530538551	0.956
18	23714033	T	G	18	26134069	y	y	splicing	PSMA8(NM_144662:exon1:c.102+2T>G;NM_001025097:exon1:c.102+2T>G;NM_001025096:exon1:c.102+2T>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon1:c.102+2T>G;ENST00000415576:exon1:c.102+2T>G;ENST00000343848:exon1:c.102+2T>G;ENST00000308268:exon1:c.102+2T>G)	.	.	0.999988247793601	0.93
18	23714034	G	A	18	26134070	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.3130523838473E-4	0.03
18	23714034	G	C	18	26134070	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.98694554087473	0.74
18	23714034	G	T	18	26134070	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.998124843826029	0.626
18	23714035	A	C	18	26134071	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.555568749847904	0.548
18	23714035	A	G	18	26134071	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.994101085868493	0.836
18	23714035	A	T	18	26134071	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.988356032563809	0.864
18	23714036	G	A	18	26134072	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999955389732677	0.964
18	23714036	G	C	18	26134072	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999322768550035	0.828
18	23714036	G	T	18	26134072	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999945011295992	0.962
18	23714037	G	A	18	26134073	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.32371928000237E-5	0.006
18	23714037	G	C	18	26134073	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	4.36700584442996E-5	0.002
18	23714037	G	T	18	26134073	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.65000147829072E-5	0.02
18	23714038	A	C	18	26134074	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.48476653026352E-4	0.004
18	23714038	A	G	18	26134074	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.48476653026352E-4	0.004
18	23714038	A	T	18	26134074	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.17815113481648E-4	0.004
18	23714039	A	C	18	26134075	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.14431295529628E-4	0.0
18	23714039	A	G	18	26134075	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.14431295529628E-4	0.0
18	23714039	A	T	18	26134075	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.15543806912382E-4	0.038
18	23719997	T	A	18	26140033	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23719997	T	C	18	26140033	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23719997	T	G	18	26140033	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23719998	T	A	18	26140034	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.02
18	23719998	T	C	18	26140034	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23719998	T	G	18	26140034	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23719999	C	A	18	26140035	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23719999	C	G	18	26140035	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23719999	C	T	18	26140035	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23720000	C	A	18	26140036	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.99153316237132E-5	0.0
18	23720000	C	G	18	26140036	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.99153316237132E-5	0.0
18	23720000	C	T	18	26140036	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.99153316237132E-5	0.0
18	23720001	T	A	18	26140037	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720001	T	C	18	26140037	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720001	T	G	18	26140037	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720002	T	A	18	26140038	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720002	T	C	18	26140038	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720002	T	G	18	26140038	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720003	T	A	18	26140039	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720003	T	C	18	26140039	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720003	T	G	18	26140039	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720004	G	A	18	26140040	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23720004	G	C	18	26140040	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.73243042051766E-5	0.016
18	23720004	G	T	18	26140040	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23720005	G	A	18	26140041	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23720005	G	C	18	26140041	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.73243042051766E-5	0.016
18	23720005	G	T	18	26140041	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23720006	T	A	18	26140042	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720006	T	C	18	26140042	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720006	T	G	18	26140042	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.016
18	23720007	A	C	18	26140043	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.103-2A>C)	.	.	1.59660858139777E-5	0.0
18	23720007	A	G	18	26140043	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.103-2A>G)	.	.	1.59660858139777E-5	0.0
18	23720007	A	T	18	26140043	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.103-2A>T)	.	.	1.59660858139777E-5	0.0
18	23720008	G	A	18	26140044	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.103-1G>A)	.	.	1.99153316237132E-5	0.0
18	23720008	G	C	18	26140044	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.103-1G>C)	.	.	1.99153316237132E-5	0.0
18	23720008	G	T	18	26140044	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.103-1G>T)	.	.	1.99153316237132E-5	0.0
18	23720009	T	A	18	26140045	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.T103A:p.Y35N;	2.45277156108894E-5	0.0
18	23720009	T	C	18	26140045	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.T103C:p.Y35H;	2.45277156108894E-5	0.0
18	23720009	T	G	18	26140045	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.T103G:p.Y35D;	2.45277156108894E-5	0.0
18	23720010	A	C	18	26140046	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A104C:p.Y35S;	6.19654958573966E-5	0.016
18	23720010	A	G	18	26140046	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A104G:p.Y35C;	6.19654958573966E-5	0.016
18	23720010	A	T	18	26140046	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A104T:p.Y35F;	9.57123356397867E-5	0.01
18	23720071	A	C	18	26140107	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A165C:p.K55N;	2.68284073685752E-5	0.004
18	23720071	A	G	18	26140107	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A165G:p.K55K;	1.73686617846189E-5	0.004
18	23720071	A	T	18	26140107	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A165T:p.K55N;	2.68284073685752E-5	0.004
18	23720072	A	C	18	26140108	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A166C:p.K56Q;	2.68284073685752E-5	0.004
18	23720072	A	G	18	26140108	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A166G:p.K56E;	2.89484418870929E-5	0.004
18	23720072	A	T	18	26140108	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	stopgain SNV	ENSG00000154611:ENST00000538664:exon2:c.A166T:p.K56X;	2.40076768459217E-4	0.018
18	23720073	A	C	18	26140109	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A167C:p.K56T;	2.68284073685752E-5	0.006
18	23720073	A	G	18	26140109	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A167G:p.K56R;	2.89484418870929E-5	0.004
18	23720073	A	T	18	26140109	n	y	intronic	PSMA8	.	.	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000538664:exon2:c.A167T:p.K56M;	1.73686617846189E-5	0.004
18	23720074	G	A	18	26140110	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.167+1G>A)	.	.	9.57123356397867E-5	0.012
18	23720074	G	C	18	26140110	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.167+1G>C)	.	.	9.57123356397867E-5	0.01
18	23720074	G	T	18	26140110	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.167+1G>T)	.	.	9.57123356397867E-5	0.008
18	23720075	T	A	18	26140111	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.167+2T>A)	.	.	3.78864525412067E-5	0.0
18	23720075	T	C	18	26140111	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.167+2T>C)	.	.	2.45277156108894E-5	0.0
18	23720075	T	G	18	26140111	n	y	intronic	PSMA8	.	.	splicing	ENSG00000154611(ENST00000538664:exon2:c.167+2T>G)	.	.	2.45277156108894E-5	0.0
18	23720076	A	C	18	26140112	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.036
18	23720076	A	G	18	26140112	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.19654958573966E-5	0.032
18	23720076	A	T	18	26140112	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.57123356397867E-5	0.012
18	23720077	A	C	18	26140113	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.45277156108894E-5	0.0
18	23720077	A	G	18	26140113	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.45277156108894E-5	0.0
18	23720077	A	T	18	26140113	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.45277156108894E-5	0.0
18	23720078	G	A	18	26140114	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23720078	G	C	18	26140114	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23720078	G	T	18	26140114	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.49453169148861E-5	0.016
18	23720079	T	A	18	26140115	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.59660858139777E-5	0.004
18	23720079	T	C	18	26140115	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.59660858139777E-5	0.004
18	23720079	T	G	18	26140115	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.59660858139777E-5	0.004
18	23720080	A	C	18	26140116	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.42005417025298E-5	0.0
18	23720080	A	G	18	26140116	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.42005417025298E-5	0.0
18	23720080	A	T	18	26140116	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.42005417025298E-5	0.0
18	23720081	C	A	18	26140117	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.99153316237132E-5	0.002
18	23720081	C	G	18	26140117	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.99153316237132E-5	0.002
18	23720081	C	T	18	26140117	n	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.99153316237132E-5	0.002
18	23724511	A	C	18	26144547	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.80233962609701E-4	0.004
18	23724511	A	G	18	26144547	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.998734440720237	0.986
18	23724511	A	T	18	26144547	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.30942976841397E-4	0.012
18	23724512	T	A	18	26144548	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999909326082616	0.986
18	23724512	T	C	18	26144548	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00480167028064727	0.216
18	23724512	T	G	18	26144548	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999890754710437	0.988
18	23724513	G	A	18	26144549	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00143449256893681	0.058
18	23724513	G	C	18	26144549	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	8.32469513448071E-5	0.014
18	23724513	G	T	18	26144549	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.95054957356005E-5	0.018
18	23724514	A	C	18	26144550	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.50376176012361E-4	0.04
18	23724514	A	G	18	26144550	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.33982788516279E-4	0.072
18	23724514	A	T	18	26144550	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.16966601631484E-4	0.018
18	23724515	C	A	18	26144551	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	4.35181247082237E-4	0.092
18	23724515	C	G	18	26144551	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999870720832067	0.976
18	23724515	C	T	18	26144551	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.54999210823956E-5	0.0
18	23724516	T	A	18	26144552	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.649725657766688	0.5
18	23724516	T	C	18	26144552	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.0245072242862E-4	0.09
18	23724516	T	G	18	26144552	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.137896081181431	0.26
18	23724517	T	A	18	26144553	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999964354557653	0.954
18	23724517	T	C	18	26144553	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.74227605346959E-4	0.052
18	23724517	T	G	18	26144553	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0375953517069547	0.366
18	23724518	G	A	18	26144554	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.54765417399642E-4	0.006
18	23724518	G	C	18	26144554	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.44248969813696E-5	0.0
18	23724518	G	T	18	26144554	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.44248969813696E-5	0.0
18	23724519	A	C	18	26144555	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	8.44893437386403E-5	0.046
18	23724519	A	G	18	26144555	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.45204588029777E-4	0.022
18	23724519	A	T	18	26144555	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.54424864405883E-4	0.032
18	23724520	C	A	18	26144556	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.964585549987779	0.75
18	23724520	C	G	18	26144556	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.998782997530274	0.89
18	23724520	C	T	18	26144556	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.44733354150134E-4	0.202
18	23724521	A	C	18	26144557	y	y	splicing	PSMA8(NM_144662:exon2:c.103-2A>C;NM_001025097:exon2:c.103-2A>C;NM_001025096:exon2:c.103-2A>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.168-2A>C;ENST00000415576:exon2:c.103-2A>C;ENST00000343848:exon2:c.103-2A>C;ENST00000308268:exon2:c.103-2A>C)	.	.	0.999957317860884	0.934
18	23724521	A	G	18	26144557	y	y	splicing	PSMA8(NM_144662:exon2:c.103-2A>G;NM_001025097:exon2:c.103-2A>G;NM_001025096:exon2:c.103-2A>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.168-2A>G;ENST00000415576:exon2:c.103-2A>G;ENST00000343848:exon2:c.103-2A>G;ENST00000308268:exon2:c.103-2A>G)	.	.	0.999957317860884	0.934
18	23724521	A	T	18	26144557	y	y	splicing	PSMA8(NM_144662:exon2:c.103-2A>T;NM_001025097:exon2:c.103-2A>T;NM_001025096:exon2:c.103-2A>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.168-2A>T;ENST00000415576:exon2:c.103-2A>T;ENST00000343848:exon2:c.103-2A>T;ENST00000308268:exon2:c.103-2A>T)	.	.	0.999983459627143	0.936
18	23724522	G	A	18	26144558	y	y	splicing	PSMA8(NM_144662:exon2:c.103-1G>A;NM_001025097:exon2:c.103-1G>A;NM_001025096:exon2:c.103-1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.168-1G>A;ENST00000415576:exon2:c.103-1G>A;ENST00000343848:exon2:c.103-1G>A;ENST00000308268:exon2:c.103-1G>A)	.	.	0.999992425382947	0.942
18	23724522	G	C	18	26144558	y	y	splicing	PSMA8(NM_144662:exon2:c.103-1G>C;NM_001025097:exon2:c.103-1G>C;NM_001025096:exon2:c.103-1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.168-1G>C;ENST00000415576:exon2:c.103-1G>C;ENST00000343848:exon2:c.103-1G>C;ENST00000308268:exon2:c.103-1G>C)	.	.	0.999992425382947	0.942
18	23724522	G	T	18	26144558	y	y	splicing	PSMA8(NM_144662:exon2:c.103-1G>T;NM_001025097:exon2:c.103-1G>T;NM_001025096:exon2:c.103-1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.168-1G>T;ENST00000415576:exon2:c.103-1G>T;ENST00000343848:exon2:c.103-1G>T;ENST00000308268:exon2:c.103-1G>T)	.	.	0.999992425382947	0.942
18	23724523	G	A	18	26144559	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon2:c.G103A:p.V35I;PSMA8:NM_001025096:exon2:c.G103A:p.V35I;PSMA8:NM_144662:exon2:c.G103A:p.V35I;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.G103A:p.V35I;ENSG00000154611:ENST00000308268:exon2:c.G103A:p.V35I;ENSG00000154611:ENST00000343848:exon2:c.G103A:p.V35I;	0.984976998490749	0.738
18	23724523	G	C	18	26144559	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon2:c.G103C:p.V35L;PSMA8:NM_001025096:exon2:c.G103C:p.V35L;PSMA8:NM_144662:exon2:c.G103C:p.V35L;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.G103C:p.V35L;ENSG00000154611:ENST00000308268:exon2:c.G103C:p.V35L;ENSG00000154611:ENST00000538664:exon3:c.G168C:p.K56N;ENSG00000154611:ENST00000343848:exon2:c.G103C:p.V35L;	0.914985442749344	0.754
18	23724523	G	T	18	26144559	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon2:c.G103T:p.V35F;PSMA8:NM_001025096:exon2:c.G103T:p.V35F;PSMA8:NM_144662:exon2:c.G103T:p.V35F;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.G103T:p.V35F;ENSG00000154611:ENST00000308268:exon2:c.G103T:p.V35F;ENSG00000154611:ENST00000538664:exon3:c.G168T:p.K56N;ENSG00000154611:ENST00000343848:exon2:c.G103T:p.V35F;	0.862768311697526	0.758
18	23724524	T	A	18	26144560	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon2:c.T104A:p.V35D;PSMA8:NM_001025096:exon2:c.T104A:p.V35D;PSMA8:NM_144662:exon2:c.T104A:p.V35D;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.T104A:p.V35D;ENSG00000154611:ENST00000308268:exon2:c.T104A:p.V35D;ENSG00000154611:ENST00000538664:exon3:c.T169A:p.S57T;ENSG00000154611:ENST00000343848:exon2:c.T104A:p.V35D;	0.147315074958569	0.364
18	23724524	T	C	18	26144560	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon2:c.T104C:p.V35A;PSMA8:NM_001025096:exon2:c.T104C:p.V35A;PSMA8:NM_144662:exon2:c.T104C:p.V35A;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.T104C:p.V35A;ENSG00000154611:ENST00000308268:exon2:c.T104C:p.V35A;ENSG00000154611:ENST00000538664:exon3:c.T169C:p.S57P;ENSG00000154611:ENST00000343848:exon2:c.T104C:p.V35A;	0.111799937201877	0.326
18	23724524	T	G	18	26144560	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon2:c.T104G:p.V35G;PSMA8:NM_001025096:exon2:c.T104G:p.V35G;PSMA8:NM_144662:exon2:c.T104G:p.V35G;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.T104G:p.V35G;ENSG00000154611:ENST00000308268:exon2:c.T104G:p.V35G;ENSG00000154611:ENST00000538664:exon3:c.T169G:p.S57A;ENSG00000154611:ENST00000343848:exon2:c.T104G:p.V35G;	0.226839091876663	0.322
18	23724647	C	A	18	26144683	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025096:exon2:c.C227A:p.A76E;PSMA8:NM_144662:exon2:c.C227A:p.A76E;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.C227A:p.A76E;ENSG00000154611:ENST00000308268:exon2:c.C227A:p.A76E;	0.962017943780264	0.796
18	23724647	C	G	18	26144683	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025096:exon2:c.C227G:p.A76G;PSMA8:NM_144662:exon2:c.C227G:p.A76G;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.C227G:p.A76G;ENSG00000154611:ENST00000308268:exon2:c.C227G:p.A76G;	0.926642721491604	0.648
18	23724647	C	T	18	26144683	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025096:exon2:c.C227T:p.A76V;PSMA8:NM_144662:exon2:c.C227T:p.A76V;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.C227T:p.A76V;ENSG00000154611:ENST00000308268:exon2:c.C227T:p.A76V;	0.99985927339162	0.988
18	23724648	A	C	18	26144684	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025096:exon2:c.A228C:p.A76A;PSMA8:NM_144662:exon2:c.A228C:p.A76A;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.A228C:p.A76A;ENSG00000154611:ENST00000308268:exon2:c.A228C:p.A76A;	0.997531587266211	0.92
18	23724648	A	G	18	26144684	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025096:exon2:c.A228G:p.A76A;PSMA8:NM_144662:exon2:c.A228G:p.A76A;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.A228G:p.A76A;ENSG00000154611:ENST00000308268:exon2:c.A228G:p.A76A;	0.998523215626911	0.904
18	23724648	A	T	18	26144684	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025096:exon2:c.A228T:p.A76A;PSMA8:NM_144662:exon2:c.A228T:p.A76A;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.A228T:p.A76A;ENSG00000154611:ENST00000308268:exon2:c.A228T:p.A76A;	0.998834891208716	0.962
18	23724649	G	A	18	26144685	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025096:exon2:c.G229A:p.G77R;PSMA8:NM_144662:exon2:c.G229A:p.V77I;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.G229A:p.G77R;ENSG00000154611:ENST00000308268:exon2:c.G229A:p.V77I;	0.999993080992273	1.0
18	23724649	G	C	18	26144685	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025096:exon2:c.G229C:p.G77R;PSMA8:NM_144662:exon2:c.G229C:p.V77L;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon2:c.G229C:p.G77R;ENSG00000154611:ENST00000308268:exon2:c.G229C:p.V77L;	0.999984709218058	0.992
18	23724649	G	T	18	26144685	y	y	exonic	PSMA8	stopgain SNV	PSMA8:NM_001025096:exon2:c.G229T:p.G77X;	exonic	ENSG00000154611	stopgain SNV	ENSG00000154611:ENST00000415576:exon2:c.G229T:p.G77X;	0.999987239804196	0.948
18	23724650	G	A	18	26144686	y	y	splicing	PSMA8(NM_144662:exon2:c.229+1G>A;NM_001025096:exon2:c.229+1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.294+1G>A;ENST00000415576:exon2:c.229+1G>A;ENST00000308268:exon2:c.229+1G>A)	.	.	0.999990361384395	0.944
18	23724650	G	C	18	26144686	y	y	splicing	PSMA8(NM_144662:exon2:c.229+1G>C;NM_001025096:exon2:c.229+1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.294+1G>C;ENST00000415576:exon2:c.229+1G>C;ENST00000308268:exon2:c.229+1G>C)	.	.	0.999990361384395	0.944
18	23724650	G	T	18	26144686	y	y	splicing	PSMA8(NM_144662:exon2:c.229+1G>T;NM_001025096:exon2:c.229+1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.294+1G>T;ENST00000415576:exon2:c.229+1G>T;ENST00000308268:exon2:c.229+1G>T)	.	.	0.999990361384395	0.944
18	23724651	T	A	18	26144687	y	y	splicing	PSMA8(NM_144662:exon2:c.229+2T>A;NM_001025096:exon2:c.229+2T>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.294+2T>A;ENST00000415576:exon2:c.229+2T>A;ENST00000308268:exon2:c.229+2T>A)	.	.	0.999989917668626	0.934
18	23724651	T	C	18	26144687	y	y	splicing	PSMA8(NM_144662:exon2:c.229+2T>C;NM_001025096:exon2:c.229+2T>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.294+2T>C;ENST00000415576:exon2:c.229+2T>C;ENST00000308268:exon2:c.229+2T>C)	.	.	0.993964682184248	0.606
18	23724651	T	G	18	26144687	y	y	splicing	PSMA8(NM_144662:exon2:c.229+2T>G;NM_001025096:exon2:c.229+2T>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon3:c.294+2T>G;ENST00000415576:exon2:c.229+2T>G;ENST00000308268:exon2:c.229+2T>G)	.	.	0.999989917668626	0.934
18	23724652	A	C	18	26144688	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999935199452547	0.978
18	23724652	A	G	18	26144688	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.992916057480383	0.918
18	23724652	A	T	18	26144688	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.997595159352754	0.916
18	23724653	C	A	18	26144689	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.33273333491673E-5	0.016
18	23724653	C	G	18	26144689	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.13032120674338E-4	0.142
18	23724653	C	T	18	26144689	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00346570177668481	0.256
18	23724654	T	A	18	26144690	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.31603837082631E-4	0.012
18	23724654	T	C	18	26144690	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.52565776877697E-4	0.026
18	23724654	T	G	18	26144690	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.57235376657296E-4	0.034
18	23724655	T	A	18	26144691	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.475506729772297	0.338
18	23724655	T	C	18	26144691	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.509112617539556	0.492
18	23724655	T	G	18	26144691	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.127498788328565	0.372
18	23724656	A	C	18	26144692	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.85022707370831E-4	0.002
18	23724656	A	G	18	26144692	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.14514066012428E-4	0.002
18	23724656	A	T	18	26144692	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.70468354515916E-4	0.002
18	23724657	A	C	18	26144693	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.42863973527116E-5	0.0
18	23724657	A	G	18	26144693	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	4.07014835428848E-5	0.0
18	23724657	A	T	18	26144693	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.78389654127837E-5	0.0
18	23731792	G	A	18	26151828	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.36342025069854E-5	0.0
18	23731792	G	C	18	26151828	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.20543378537447E-5	0.0
18	23731792	G	T	18	26151828	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.60283418007628E-5	0.0
18	23731793	T	A	18	26151829	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.793532754163063	0.608
18	23731793	T	C	18	26151829	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.011263358905729	0.272
18	23731793	T	G	18	26151829	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.158365650770768	0.55
18	23731794	T	A	18	26151830	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0898571491922808	0.544
18	23731794	T	C	18	26151830	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.32745199473912E-4	0.07
18	23731794	T	G	18	26151830	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0066390329383236	0.452
18	23731795	T	A	18	26151831	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0274245160871031	0.312
18	23731795	T	C	18	26151831	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.65158583687022E-4	0.046
18	23731795	T	G	18	26151831	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00894758395374468	0.26
18	23731796	T	A	18	26151832	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0164257344356044	0.23
18	23731796	T	C	18	26151832	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.83906998285004E-5	0.052
18	23731796	T	G	18	26151832	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	7.45741729377864E-4	0.17
18	23731797	T	A	18	26151833	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999139200152217	0.982
18	23731797	T	C	18	26151833	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	5.21202186997035E-5	0.028
18	23731797	T	G	18	26151833	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0240857623210335	0.316
18	23731798	G	A	18	26151834	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.64970960675872E-5	0.008
18	23731798	G	C	18	26151834	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	4.89730144319998E-5	0.132
18	23731798	G	T	18	26151834	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	5.06488069256303E-5	0.03
18	23731799	T	A	18	26151835	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999785869257051	0.95
18	23731799	T	C	18	26151835	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00882809449322361	0.178
18	23731799	T	G	18	26151835	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.690234238050875	0.57
18	23731800	G	A	18	26151836	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.3465690829805E-5	0.002
18	23731800	G	C	18	26151836	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.12764202224279E-5	0.0
18	23731800	G	T	18	26151836	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.10225427065926E-5	0.01
18	23731801	A	C	18	26151837	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.6900769583149E-4	0.132
18	23731801	A	G	18	26151837	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0404409498296375	0.284
18	23731801	A	T	18	26151837	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.30972506704688E-4	0.028
18	23731802	A	C	18	26151838	y	y	splicing	PSMA8(NM_144662:exon3:c.230-2A>C)	.	.	splicing	ENSG00000154611(ENST00000308268:exon3:c.230-2A>C)	.	.	0.999416445258131	0.62
18	23731802	A	G	18	26151838	y	y	splicing	PSMA8(NM_144662:exon3:c.230-2A>G)	.	.	splicing	ENSG00000154611(ENST00000308268:exon3:c.230-2A>G)	.	.	0.999416445258131	0.622
18	23731802	A	T	18	26151838	y	y	splicing	PSMA8(NM_144662:exon3:c.230-2A>T)	.	.	splicing	ENSG00000154611(ENST00000308268:exon3:c.230-2A>T)	.	.	0.999416445258131	0.632
18	23731803	G	A	18	26151839	y	y	splicing	PSMA8(NM_144662:exon3:c.230-1G>A)	.	.	splicing	ENSG00000154611(ENST00000308268:exon3:c.230-1G>A)	.	.	0.982440229699639	0.462
18	23731803	G	C	18	26151839	y	y	splicing	PSMA8(NM_144662:exon3:c.230-1G>C)	.	.	splicing	ENSG00000154611(ENST00000308268:exon3:c.230-1G>C)	.	.	0.982440229699639	0.448
18	23731803	G	T	18	26151839	y	y	splicing	PSMA8(NM_144662:exon3:c.230-1G>T)	.	.	splicing	ENSG00000154611(ENST00000308268:exon3:c.230-1G>T)	.	.	0.982440229699639	0.45
18	23731804	T	A	18	26151840	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_144662:exon3:c.T230A:p.V77D;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000308268:exon3:c.T230A:p.V77D;	3.07347595564748E-5	0.0
18	23731804	T	C	18	26151840	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_144662:exon3:c.T230C:p.V77A;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000308268:exon3:c.T230C:p.V77A;	8.14102578829389E-5	0.04
18	23731804	T	G	18	26151840	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_144662:exon3:c.T230G:p.V77G;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000308268:exon3:c.T230G:p.V77G;	1.21646447163786E-4	0.054
18	23731805	T	A	18	26151841	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_144662:exon3:c.T231A:p.V77V;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000308268:exon3:c.T231A:p.V77V;	6.97714759177157E-5	0.048
18	23731805	T	C	18	26151841	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_144662:exon3:c.T231C:p.V77V;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000308268:exon3:c.T231C:p.V77V;	5.20341015930854E-5	0.052
18	23731805	T	G	18	26151841	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_144662:exon3:c.T231G:p.V77V;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000308268:exon3:c.T231G:p.V77V;	2.46509301521335E-5	0.07
18	23731944	C	A	18	26151980	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon3:c.C238A:p.Q80K;PSMA8:NM_001025096:exon3:c.C352A:p.Q118K;PSMA8:NM_144662:exon3:c.C370A:p.Q124K;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon3:c.C352A:p.Q118K;ENSG00000154611:ENST00000308268:exon3:c.C370A:p.Q124K;ENSG00000154611:ENST00000343848:exon3:c.C238A:p.Q80K;	0.957736990535326	0.816
18	23731944	C	G	18	26151980	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon3:c.C238G:p.Q80E;PSMA8:NM_001025096:exon3:c.C352G:p.Q118E;PSMA8:NM_144662:exon3:c.C370G:p.Q124E;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon3:c.C352G:p.Q118E;ENSG00000154611:ENST00000308268:exon3:c.C370G:p.Q124E;ENSG00000154611:ENST00000343848:exon3:c.C238G:p.Q80E;	0.926736865931242	0.622
18	23731944	C	T	18	26151980	y	y	exonic	PSMA8	stopgain SNV	PSMA8:NM_001025097:exon3:c.C238T:p.Q80X;PSMA8:NM_001025096:exon3:c.C352T:p.Q118X;PSMA8:NM_144662:exon3:c.C370T:p.Q124X;	exonic	ENSG00000154611	stopgain SNV	ENSG00000154611:ENST00000415576:exon3:c.C352T:p.Q118X;ENSG00000154611:ENST00000308268:exon3:c.C370T:p.Q124X;ENSG00000154611:ENST00000343848:exon3:c.C238T:p.Q80X;	0.998247959904473	0.804
18	23731945	A	C	18	26151981	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon3:c.A239C:p.Q80P;PSMA8:NM_001025096:exon3:c.A353C:p.Q118P;PSMA8:NM_144662:exon3:c.A371C:p.Q124P;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon3:c.A353C:p.Q118P;ENSG00000154611:ENST00000308268:exon3:c.A371C:p.Q124P;ENSG00000154611:ENST00000343848:exon3:c.A239C:p.Q80P;	0.992191560052989	0.83
18	23731945	A	G	18	26151981	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon3:c.A239G:p.Q80R;PSMA8:NM_001025096:exon3:c.A353G:p.Q118R;PSMA8:NM_144662:exon3:c.A371G:p.Q124R;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon3:c.A353G:p.Q118R;ENSG00000154611:ENST00000308268:exon3:c.A371G:p.Q124R;ENSG00000154611:ENST00000343848:exon3:c.A239G:p.Q80R;	0.992662359113589	0.898
18	23731945	A	T	18	26151981	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon3:c.A239T:p.Q80L;PSMA8:NM_001025096:exon3:c.A353T:p.Q118L;PSMA8:NM_144662:exon3:c.A371T:p.Q124L;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon3:c.A353T:p.Q118L;ENSG00000154611:ENST00000308268:exon3:c.A371T:p.Q124L;ENSG00000154611:ENST00000343848:exon3:c.A239T:p.Q80L;	0.983340500251295	0.616
18	23731946	G	A	18	26151982	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025097:exon3:c.G240A:p.Q80Q;PSMA8:NM_001025096:exon3:c.G354A:p.Q118Q;PSMA8:NM_144662:exon3:c.G372A:p.Q124Q;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon3:c.G354A:p.Q118Q;ENSG00000154611:ENST00000308268:exon3:c.G372A:p.Q124Q;ENSG00000154611:ENST00000343848:exon3:c.G240A:p.Q80Q;	0.990800269897096	0.952
18	23731946	G	C	18	26151982	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon3:c.G240C:p.Q80H;PSMA8:NM_001025096:exon3:c.G354C:p.Q118H;PSMA8:NM_144662:exon3:c.G372C:p.Q124H;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon3:c.G354C:p.Q118H;ENSG00000154611:ENST00000308268:exon3:c.G372C:p.Q124H;ENSG00000154611:ENST00000343848:exon3:c.G240C:p.Q80H;	0.999821757184036	0.968
18	23731946	G	T	18	26151982	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon3:c.G240T:p.Q80H;PSMA8:NM_001025096:exon3:c.G354T:p.Q118H;PSMA8:NM_144662:exon3:c.G372T:p.Q124H;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon3:c.G354T:p.Q118H;ENSG00000154611:ENST00000308268:exon3:c.G372T:p.Q124H;ENSG00000154611:ENST00000343848:exon3:c.G240T:p.Q80H;	0.999756678738012	0.966
18	23731947	G	A	18	26151983	y	y	splicing	PSMA8(NM_144662:exon3:c.372+1G>A;NM_001025097:exon3:c.240+1G>A;NM_001025096:exon3:c.354+1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon4:c.419+1G>A;ENST00000415576:exon3:c.354+1G>A;ENST00000343848:exon3:c.240+1G>A;ENST00000308268:exon3:c.372+1G>A)	.	.	0.999990361384395	0.938
18	23731947	G	C	18	26151983	y	y	splicing	PSMA8(NM_144662:exon3:c.372+1G>C;NM_001025097:exon3:c.240+1G>C;NM_001025096:exon3:c.354+1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon4:c.419+1G>C;ENST00000415576:exon3:c.354+1G>C;ENST00000343848:exon3:c.240+1G>C;ENST00000308268:exon3:c.372+1G>C)	.	.	0.999990361384395	0.938
18	23731947	G	T	18	26151983	y	y	splicing	PSMA8(NM_144662:exon3:c.372+1G>T;NM_001025097:exon3:c.240+1G>T;NM_001025096:exon3:c.354+1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon4:c.419+1G>T;ENST00000415576:exon3:c.354+1G>T;ENST00000343848:exon3:c.240+1G>T;ENST00000308268:exon3:c.372+1G>T)	.	.	0.999990361384395	0.938
18	23731948	T	A	18	26151984	y	y	splicing	PSMA8(NM_144662:exon3:c.372+2T>A;NM_001025097:exon3:c.240+2T>A;NM_001025096:exon3:c.354+2T>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon4:c.419+2T>A;ENST00000415576:exon3:c.354+2T>A;ENST00000343848:exon3:c.240+2T>A;ENST00000308268:exon3:c.372+2T>A)	.	.	0.999988247793601	0.932
18	23731948	T	C	18	26151984	y	y	splicing	PSMA8(NM_144662:exon3:c.372+2T>C;NM_001025097:exon3:c.240+2T>C;NM_001025096:exon3:c.354+2T>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon4:c.419+2T>C;ENST00000415576:exon3:c.354+2T>C;ENST00000343848:exon3:c.240+2T>C;ENST00000308268:exon3:c.372+2T>C)	.	.	0.99340600729494	0.708
18	23731948	T	G	18	26151984	y	y	splicing	PSMA8(NM_144662:exon3:c.372+2T>G;NM_001025097:exon3:c.240+2T>G;NM_001025096:exon3:c.354+2T>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon4:c.419+2T>G;ENST00000415576:exon3:c.354+2T>G;ENST00000343848:exon3:c.240+2T>G;ENST00000308268:exon3:c.372+2T>G)	.	.	0.999988247793601	0.932
18	23731949	A	C	18	26151985	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.966537831371691	0.732
18	23731949	A	G	18	26151985	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0133810487999567	0.206
18	23731949	A	T	18	26151985	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.957790494292155	0.762
18	23731950	A	C	18	26151986	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.122103249344102	0.312
18	23731950	A	G	18	26151986	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.59689485461876	0.378
18	23731950	A	T	18	26151986	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.143919021046869	0.29
18	23731951	G	A	18	26151987	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.874758097298753	0.552
18	23731951	G	C	18	26151987	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.825603204081996	0.562
18	23731951	G	T	18	26151987	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.867619320601985	0.696
18	23731952	C	A	18	26151988	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.75176827952024E-4	0.024
18	23731952	C	G	18	26151988	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.73856420008416E-4	0.038
18	23731952	C	T	18	26151988	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.81695627669563E-4	0.0
18	23731953	T	A	18	26151989	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.73892773368477E-4	0.0
18	23731953	T	C	18	26151989	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.73892773368477E-4	0.0
18	23731953	T	G	18	26151989	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.73892773368477E-4	0.0
18	23731954	A	C	18	26151990	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	5.0339478167547E-5	0.0
18	23731954	A	G	18	26151990	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.0030960233099E-4	0.0
18	23731954	A	T	18	26151990	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.09659819656173E-4	0.0
18	23738074	T	A	18	26158110	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.290447781621438	0.334
18	23738074	T	C	18	26158110	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00843077395835242	0.046
18	23738074	T	G	18	26158110	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0810611460758969	0.296
18	23738075	T	A	18	26158111	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.909459762265876	0.556
18	23738075	T	C	18	26158111	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.350497038587879	0.308
18	23738075	T	G	18	26158111	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.886007582401688	0.518
18	23738076	A	C	18	26158112	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0128247667989862	0.078
18	23738076	A	G	18	26158112	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0361882656642998	0.088
18	23738076	A	T	18	26158112	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0131586927243491	0.086
18	23738077	T	A	18	26158113	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0101461811286749	0.218
18	23738077	T	C	18	26158113	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	8.0327606948592E-4	0.044
18	23738077	T	G	18	26158113	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999927039729658	0.96
18	23738078	T	A	18	26158114	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0263395953641984	0.184
18	23738078	T	C	18	26158114	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00116282854678117	0.016
18	23738078	T	G	18	26158114	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00716590595762936	0.104
18	23738079	T	A	18	26158115	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.124272688261388	0.178
18	23738079	T	C	18	26158115	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00191867850462562	0.03
18	23738079	T	G	18	26158115	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00632454638415799	0.092
18	23738080	T	A	18	26158116	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.290420540557325	0.256
18	23738080	T	C	18	26158116	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00199163268197847	0.042
18	23738080	T	G	18	26158116	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.140030931534471	0.278
18	23738081	T	A	18	26158117	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0254092262020427	0.252
18	23738081	T	C	18	26158117	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.83855356016357E-4	0.016
18	23738081	T	G	18	26158117	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.133474405830684	0.294
18	23738082	C	A	18	26158118	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00226040201169909	0.188
18	23738082	C	G	18	26158118	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00275227986784815	0.182
18	23738082	C	T	18	26158118	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00137402067998039	0.15
18	23738083	T	A	18	26158119	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.162814041611162	0.344
18	23738083	T	C	18	26158119	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	5.11529283249871E-4	0.03
18	23738083	T	G	18	26158119	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.996558010178245	0.732
18	23738084	A	C	18	26158120	y	y	splicing	PSMA8(NM_144662:exon4:c.373-2A>C;NM_001025097:exon4:c.241-2A>C;NM_001025096:exon4:c.355-2A>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.420-2A>C;ENST00000415576:exon4:c.355-2A>C;ENST00000343848:exon4:c.241-2A>C;ENST00000308268:exon4:c.373-2A>C)	.	.	0.999988247793601	0.928
18	23738084	A	G	18	26158120	y	y	splicing	PSMA8(NM_144662:exon4:c.373-2A>G;NM_001025097:exon4:c.241-2A>G;NM_001025096:exon4:c.355-2A>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.420-2A>G;ENST00000415576:exon4:c.355-2A>G;ENST00000343848:exon4:c.241-2A>G;ENST00000308268:exon4:c.373-2A>G)	.	.	0.999988247793601	0.928
18	23738084	A	T	18	26158120	y	y	splicing	PSMA8(NM_144662:exon4:c.373-2A>T;NM_001025097:exon4:c.241-2A>T;NM_001025096:exon4:c.355-2A>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.420-2A>T;ENST00000415576:exon4:c.355-2A>T;ENST00000343848:exon4:c.241-2A>T;ENST00000308268:exon4:c.373-2A>T)	.	.	0.999988247793601	0.93
18	23738085	G	A	18	26158121	y	y	splicing	PSMA8(NM_144662:exon4:c.373-1G>A;NM_001025097:exon4:c.241-1G>A;NM_001025096:exon4:c.355-1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.420-1G>A;ENST00000415576:exon4:c.355-1G>A;ENST00000343848:exon4:c.241-1G>A;ENST00000308268:exon4:c.373-1G>A)	.	.	0.999992367903082	0.922
18	23738085	G	C	18	26158121	y	y	splicing	PSMA8(NM_144662:exon4:c.373-1G>C;NM_001025097:exon4:c.241-1G>C;NM_001025096:exon4:c.355-1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.420-1G>C;ENST00000415576:exon4:c.355-1G>C;ENST00000343848:exon4:c.241-1G>C;ENST00000308268:exon4:c.373-1G>C)	.	.	0.999992367903082	0.926
18	23738085	G	T	18	26158121	y	y	splicing	PSMA8(NM_144662:exon4:c.373-1G>T;NM_001025097:exon4:c.241-1G>T;NM_001025096:exon4:c.355-1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.420-1G>T;ENST00000415576:exon4:c.355-1G>T;ENST00000343848:exon4:c.241-1G>T;ENST00000308268:exon4:c.373-1G>T)	.	.	0.999992367903082	0.926
18	23738086	A	C	18	26158122	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A241C:p.K81Q;PSMA8:NM_001025096:exon4:c.A355C:p.K119Q;PSMA8:NM_144662:exon4:c.A373C:p.K125Q;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A355C:p.K119Q;ENSG00000154611:ENST00000308268:exon4:c.A373C:p.K125Q;ENSG00000154611:ENST00000343848:exon4:c.A241C:p.K81Q;	0.563574905714327	0.52
18	23738086	A	G	18	26158122	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A241G:p.K81E;PSMA8:NM_001025096:exon4:c.A355G:p.K119E;PSMA8:NM_144662:exon4:c.A373G:p.K125E;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A355G:p.K119E;ENSG00000154611:ENST00000308268:exon4:c.A373G:p.K125E;ENSG00000154611:ENST00000343848:exon4:c.A241G:p.K81E;	0.666756958238489	0.578
18	23738086	A	T	18	26158122	y	y	exonic	PSMA8	stopgain SNV	PSMA8:NM_001025097:exon4:c.A241T:p.K81X;PSMA8:NM_001025096:exon4:c.A355T:p.K119X;PSMA8:NM_144662:exon4:c.A373T:p.K125X;	exonic	ENSG00000154611	stopgain SNV	ENSG00000154611:ENST00000415576:exon4:c.A355T:p.K119X;ENSG00000154611:ENST00000308268:exon4:c.A373T:p.K125X;ENSG00000154611:ENST00000343848:exon4:c.A241T:p.K81X;	0.908879864432504	0.668
18	23738087	A	C	18	26158123	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A242C:p.K81T;PSMA8:NM_001025096:exon4:c.A356C:p.K119T;PSMA8:NM_144662:exon4:c.A374C:p.K125T;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A356C:p.K119T;ENSG00000154611:ENST00000308268:exon4:c.A374C:p.K125T;ENSG00000154611:ENST00000343848:exon4:c.A242C:p.K81T;	0.0942029071402807	0.28
18	23738087	A	G	18	26158123	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A242G:p.K81R;PSMA8:NM_001025096:exon4:c.A356G:p.K119R;PSMA8:NM_144662:exon4:c.A374G:p.K125R;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A356G:p.K119R;ENSG00000154611:ENST00000308268:exon4:c.A374G:p.K125R;ENSG00000154611:ENST00000343848:exon4:c.A242G:p.K81R;	0.00109871931177042	0.048
18	23738087	A	T	18	26158123	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A242T:p.K81I;PSMA8:NM_001025096:exon4:c.A356T:p.K119I;PSMA8:NM_144662:exon4:c.A374T:p.K125I;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A356T:p.K119I;ENSG00000154611:ENST00000308268:exon4:c.A374T:p.K125I;ENSG00000154611:ENST00000343848:exon4:c.A242T:p.K81I;	0.896040793442589	0.714
18	23738206	A	C	18	26158242	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A361C:p.K121Q;PSMA8:NM_001025096:exon4:c.A475C:p.K159Q;PSMA8:NM_144662:exon4:c.A493C:p.K165Q;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A475C:p.K159Q;ENSG00000154611:ENST00000308268:exon4:c.A493C:p.K165Q;ENSG00000154611:ENST00000343848:exon4:c.A361C:p.K121Q;	0.69697735208005	0.662
18	23738206	A	G	18	26158242	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A361G:p.K121E;PSMA8:NM_001025096:exon4:c.A475G:p.K159E;PSMA8:NM_144662:exon4:c.A493G:p.K165E;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A475G:p.K159E;ENSG00000154611:ENST00000308268:exon4:c.A493G:p.K165E;ENSG00000154611:ENST00000343848:exon4:c.A361G:p.K121E;	0.233420136658221	0.428
18	23738206	A	T	18	26158242	y	y	exonic	PSMA8	stopgain SNV	PSMA8:NM_001025097:exon4:c.A361T:p.K121X;PSMA8:NM_001025096:exon4:c.A475T:p.K159X;PSMA8:NM_144662:exon4:c.A493T:p.K165X;	exonic	ENSG00000154611	stopgain SNV	ENSG00000154611:ENST00000415576:exon4:c.A475T:p.K159X;ENSG00000154611:ENST00000308268:exon4:c.A493T:p.K165X;ENSG00000154611:ENST00000343848:exon4:c.A361T:p.K121X;	0.944831371984054	0.7
18	23738207	A	C	18	26158243	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A362C:p.K121T;PSMA8:NM_001025096:exon4:c.A476C:p.K159T;PSMA8:NM_144662:exon4:c.A494C:p.K165T;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A476C:p.K159T;ENSG00000154611:ENST00000308268:exon4:c.A494C:p.K165T;ENSG00000154611:ENST00000343848:exon4:c.A362C:p.K121T;	0.991793054878628	0.858
18	23738207	A	G	18	26158243	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A362G:p.K121R;PSMA8:NM_001025096:exon4:c.A476G:p.K159R;PSMA8:NM_144662:exon4:c.A494G:p.K165R;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A476G:p.K159R;ENSG00000154611:ENST00000308268:exon4:c.A494G:p.K165R;ENSG00000154611:ENST00000343848:exon4:c.A362G:p.K121R;	0.99471364877107	0.952
18	23738207	A	T	18	26158243	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.A362T:p.K121M;PSMA8:NM_001025096:exon4:c.A476T:p.K159M;PSMA8:NM_144662:exon4:c.A494T:p.K165M;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.A476T:p.K159M;ENSG00000154611:ENST00000308268:exon4:c.A494T:p.K165M;ENSG00000154611:ENST00000343848:exon4:c.A362T:p.K121M;	0.988249236992916	0.656
18	23738208	G	A	18	26158244	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025097:exon4:c.G363A:p.K121K;PSMA8:NM_001025096:exon4:c.G477A:p.K159K;PSMA8:NM_144662:exon4:c.G495A:p.K165K;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.G477A:p.K159K;ENSG00000154611:ENST00000308268:exon4:c.G495A:p.K165K;ENSG00000154611:ENST00000343848:exon4:c.G363A:p.K121K;	0.845934868167159	0.408
18	23738208	G	C	18	26158244	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.G363C:p.K121N;PSMA8:NM_001025096:exon4:c.G477C:p.K159N;PSMA8:NM_144662:exon4:c.G495C:p.K165N;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.G477C:p.K159N;ENSG00000154611:ENST00000308268:exon4:c.G495C:p.K165N;ENSG00000154611:ENST00000343848:exon4:c.G363C:p.K121N;	0.99665246511631	0.754
18	23738208	G	T	18	26158244	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon4:c.G363T:p.K121N;PSMA8:NM_001025096:exon4:c.G477T:p.K159N;PSMA8:NM_144662:exon4:c.G495T:p.K165N;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon4:c.G477T:p.K159N;ENSG00000154611:ENST00000308268:exon4:c.G495T:p.K165N;ENSG00000154611:ENST00000343848:exon4:c.G363T:p.K121N;	0.997618941222833	0.72
18	23738209	G	A	18	26158245	y	y	splicing	PSMA8(NM_144662:exon4:c.495+1G>A;NM_001025097:exon4:c.363+1G>A;NM_001025096:exon4:c.477+1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.542+1G>A;ENST00000415576:exon4:c.477+1G>A;ENST00000343848:exon4:c.363+1G>A;ENST00000308268:exon4:c.495+1G>A)	.	.	0.999990361384395	0.936
18	23738209	G	C	18	26158245	y	y	splicing	PSMA8(NM_144662:exon4:c.495+1G>C;NM_001025097:exon4:c.363+1G>C;NM_001025096:exon4:c.477+1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.542+1G>C;ENST00000415576:exon4:c.477+1G>C;ENST00000343848:exon4:c.363+1G>C;ENST00000308268:exon4:c.495+1G>C)	.	.	0.999990361384395	0.936
18	23738209	G	T	18	26158245	y	y	splicing	PSMA8(NM_144662:exon4:c.495+1G>T;NM_001025097:exon4:c.363+1G>T;NM_001025096:exon4:c.477+1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.542+1G>T;ENST00000415576:exon4:c.477+1G>T;ENST00000343848:exon4:c.363+1G>T;ENST00000308268:exon4:c.495+1G>T)	.	.	0.999990361384395	0.936
18	23738210	T	A	18	26158246	y	y	splicing	PSMA8(NM_144662:exon4:c.495+2T>A;NM_001025097:exon4:c.363+2T>A;NM_001025096:exon4:c.477+2T>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.542+2T>A;ENST00000415576:exon4:c.477+2T>A;ENST00000343848:exon4:c.363+2T>A;ENST00000308268:exon4:c.495+2T>A)	.	.	0.999912910396521	0.83
18	23738210	T	C	18	26158246	y	y	splicing	PSMA8(NM_144662:exon4:c.495+2T>C;NM_001025097:exon4:c.363+2T>C;NM_001025096:exon4:c.477+2T>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.542+2T>C;ENST00000415576:exon4:c.477+2T>C;ENST00000343848:exon4:c.363+2T>C;ENST00000308268:exon4:c.495+2T>C)	.	.	0.999027874507702	0.786
18	23738210	T	G	18	26158246	y	y	splicing	PSMA8(NM_144662:exon4:c.495+2T>G;NM_001025097:exon4:c.363+2T>G;NM_001025096:exon4:c.477+2T>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon5:c.542+2T>G;ENST00000415576:exon4:c.477+2T>G;ENST00000343848:exon4:c.363+2T>G;ENST00000308268:exon4:c.495+2T>G)	.	.	0.999912910396521	0.836
18	23738211	G	A	18	26158247	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.03696780061258E-5	0.0
18	23738211	G	C	18	26158247	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00317303195746878	0.168
18	23738211	G	T	18	26158247	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00450866245393757	0.146
18	23738212	A	C	18	26158248	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.109005175507889	0.364
18	23738212	A	G	18	26158248	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.390369950002296	0.43
18	23738212	A	T	18	26158248	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.430386872673888	0.414
18	23738213	G	A	18	26158249	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.988376717755121	0.686
18	23738213	G	C	18	26158249	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.973824980423797	0.62
18	23738213	G	T	18	26158249	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.995413737598538	0.658
18	23738214	T	A	18	26158250	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.468745544280171	0.444
18	23738214	T	C	18	26158250	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0735097792455648	0.274
18	23738214	T	G	18	26158250	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0582964045813588	0.358
18	23738215	C	A	18	26158251	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.17425266746205E-4	0.0
18	23738215	C	G	18	26158251	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	7.99011198133604E-5	0.0
18	23738215	C	T	18	26158251	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.45518078627751E-4	0.0
18	23738216	A	C	18	26158252	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	8.53951002467383E-4	0.0
18	23738216	A	G	18	26158252	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0012338591716885	0.0
18	23738216	A	T	18	26158252	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0012338591716885	0.006
18	23758782	T	A	18	26178818	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	7.99310558179455E-4	0.074
18	23758782	T	C	18	26178818	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.70800299371879E-4	0.026
18	23758782	T	G	18	26178818	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00128952153004852	0.082
18	23758783	T	A	18	26178819	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00159790598431167	0.13
18	23758783	T	C	18	26178819	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.33225380766837E-4	0.028
18	23758783	T	G	18	26178819	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.1996845737989E-4	0.126
18	23758784	A	C	18	26178820	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.83698693441533E-5	0.004
18	23758784	A	G	18	26178820	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.45962102870754E-5	0.0
18	23758784	A	T	18	26178820	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	4.42561462617662E-5	0.01
18	23758785	T	A	18	26178821	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0167638832539865	0.168
18	23758785	T	C	18	26178821	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.38503660246896E-4	0.116
18	23758785	T	G	18	26178821	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999941626688526	0.968
18	23758786	T	A	18	26178822	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00200656229547187	0.176
18	23758786	T	C	18	26178822	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.7572915622323E-4	0.006
18	23758786	T	G	18	26178822	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00254112802659889	0.1
18	23758787	T	A	18	26178823	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00763886165215689	0.194
18	23758787	T	C	18	26178823	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00111759035870739	0.064
18	23758787	T	G	18	26178823	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00344250230535	0.122
18	23758788	T	A	18	26178824	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.232571734354915	0.318
18	23758788	T	C	18	26178824	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00932325132497722	0.136
18	23758788	T	G	18	26178824	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.288850901329151	0.388
18	23758789	T	A	18	26178825	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0371020754205821	0.372
18	23758789	T	C	18	26178825	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0131786643262199	0.154
18	23758789	T	G	18	26178825	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.175861390218194	0.438
18	23758790	C	A	18	26178826	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.55432373954523E-5	0.0
18	23758790	C	G	18	26178826	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.00548500665077E-4	0.0
18	23758790	C	T	18	26178826	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.191707869965E-5	0.0
18	23758791	A	C	18	26178827	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.67002928954391E-4	0.086
18	23758791	A	G	18	26178827	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0784303579554781	0.422
18	23758791	A	T	18	26178827	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.58441581125568E-4	0.046
18	23758792	A	C	18	26178828	y	y	splicing	PSMA8(NM_144662:exon5:c.496-2A>C;NM_001025097:exon5:c.364-2A>C;NM_001025096:exon5:c.478-2A>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.543-2A>C;ENST00000415576:exon5:c.478-2A>C;ENST00000343848:exon5:c.364-2A>C;ENST00000308268:exon5:c.496-2A>C)	.	.	0.999988247793601	0.926
18	23758792	A	G	18	26178828	y	y	splicing	PSMA8(NM_144662:exon5:c.496-2A>G;NM_001025097:exon5:c.364-2A>G;NM_001025096:exon5:c.478-2A>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.543-2A>G;ENST00000415576:exon5:c.478-2A>G;ENST00000343848:exon5:c.364-2A>G;ENST00000308268:exon5:c.496-2A>G)	.	.	0.999988247793601	0.926
18	23758792	A	T	18	26178828	y	y	splicing	PSMA8(NM_144662:exon5:c.496-2A>T;NM_001025097:exon5:c.364-2A>T;NM_001025096:exon5:c.478-2A>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.543-2A>T;ENST00000415576:exon5:c.478-2A>T;ENST00000343848:exon5:c.364-2A>T;ENST00000308268:exon5:c.496-2A>T)	.	.	0.999988247793601	0.926
18	23758793	G	A	18	26178829	y	y	splicing	PSMA8(NM_144662:exon5:c.496-1G>A;NM_001025097:exon5:c.364-1G>A;NM_001025096:exon5:c.478-1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.543-1G>A;ENST00000415576:exon5:c.478-1G>A;ENST00000343848:exon5:c.364-1G>A;ENST00000308268:exon5:c.496-1G>A)	.	.	0.999989483462543	0.934
18	23758793	G	C	18	26178829	y	y	splicing	PSMA8(NM_144662:exon5:c.496-1G>C;NM_001025097:exon5:c.364-1G>C;NM_001025096:exon5:c.478-1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.543-1G>C;ENST00000415576:exon5:c.478-1G>C;ENST00000343848:exon5:c.364-1G>C;ENST00000308268:exon5:c.496-1G>C)	.	.	0.999989483462543	0.934
18	23758793	G	T	18	26178829	y	y	splicing	PSMA8(NM_144662:exon5:c.496-1G>T;NM_001025097:exon5:c.364-1G>T;NM_001025096:exon5:c.478-1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.543-1G>T;ENST00000415576:exon5:c.478-1G>T;ENST00000343848:exon5:c.364-1G>T;ENST00000308268:exon5:c.496-1G>T)	.	.	0.999989483462543	0.934
18	23758794	G	A	18	26178830	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.G364A:p.A122T;PSMA8:NM_001025096:exon5:c.G478A:p.A160T;PSMA8:NM_144662:exon5:c.G496A:p.A166T;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.G478A:p.A160T;ENSG00000154611:ENST00000308268:exon5:c.G496A:p.A166T;ENSG00000154611:ENST00000343848:exon5:c.G364A:p.A122T;	0.99964737686347	0.868
18	23758794	G	C	18	26178830	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.G364C:p.A122P;PSMA8:NM_001025096:exon5:c.G478C:p.A160P;PSMA8:NM_144662:exon5:c.G496C:p.A166P;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.G478C:p.A160P;ENSG00000154611:ENST00000308268:exon5:c.G496C:p.A166P;ENSG00000154611:ENST00000343848:exon5:c.G364C:p.A122P;	0.999848260876413	0.978
18	23758794	G	T	18	26178830	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.G364T:p.A122S;PSMA8:NM_001025096:exon5:c.G478T:p.A160S;PSMA8:NM_144662:exon5:c.G496T:p.A166S;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.G478T:p.A160S;ENSG00000154611:ENST00000308268:exon5:c.G496T:p.A166S;ENSG00000154611:ENST00000343848:exon5:c.G364T:p.A122S;	0.999924408634744	1.0
18	23758795	C	A	18	26178831	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.C365A:p.A122E;PSMA8:NM_001025096:exon5:c.C479A:p.A160E;PSMA8:NM_144662:exon5:c.C497A:p.A166E;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.C479A:p.A160E;ENSG00000154611:ENST00000308268:exon5:c.C497A:p.A166E;ENSG00000154611:ENST00000343848:exon5:c.C365A:p.A122E;	0.981094686326135	0.846
18	23758795	C	G	18	26178831	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.C365G:p.A122G;PSMA8:NM_001025096:exon5:c.C479G:p.A160G;PSMA8:NM_144662:exon5:c.C497G:p.A166G;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.C479G:p.A160G;ENSG00000154611:ENST00000308268:exon5:c.C497G:p.A166G;ENSG00000154611:ENST00000343848:exon5:c.C365G:p.A122G;	0.964037402610929	0.794
18	23758795	C	T	18	26178831	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.C365T:p.A122V;PSMA8:NM_001025096:exon5:c.C479T:p.A160V;PSMA8:NM_144662:exon5:c.C497T:p.A166V;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.C479T:p.A160V;ENSG00000154611:ENST00000308268:exon5:c.C497T:p.A166V;ENSG00000154611:ENST00000343848:exon5:c.C365T:p.A122V;	0.976222091741087	0.79
18	23758911	G	A	18	26178947	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.G481A:p.E161K;PSMA8:NM_001025096:exon5:c.G595A:p.E199K;PSMA8:NM_144662:exon5:c.G613A:p.E205K;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.G595A:p.E199K;ENSG00000154611:ENST00000308268:exon5:c.G613A:p.E205K;ENSG00000154611:ENST00000343848:exon5:c.G481A:p.E161K;	0.934018675173057	0.758
18	23758911	G	C	18	26178947	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.G481C:p.E161Q;PSMA8:NM_001025096:exon5:c.G595C:p.E199Q;PSMA8:NM_144662:exon5:c.G613C:p.E205Q;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.G595C:p.E199Q;ENSG00000154611:ENST00000308268:exon5:c.G613C:p.E205Q;ENSG00000154611:ENST00000343848:exon5:c.G481C:p.E161Q;	0.934018675173057	0.744
18	23758911	G	T	18	26178947	y	y	exonic	PSMA8	stopgain SNV	PSMA8:NM_001025097:exon5:c.G481T:p.E161X;PSMA8:NM_001025096:exon5:c.G595T:p.E199X;PSMA8:NM_144662:exon5:c.G613T:p.E205X;	exonic	ENSG00000154611	stopgain SNV	ENSG00000154611:ENST00000415576:exon5:c.G595T:p.E199X;ENSG00000154611:ENST00000308268:exon5:c.G613T:p.E205X;ENSG00000154611:ENST00000343848:exon5:c.G481T:p.E161X;	0.98157776407834	0.87
18	23758912	A	C	18	26178948	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.A482C:p.E161A;PSMA8:NM_001025096:exon5:c.A596C:p.E199A;PSMA8:NM_144662:exon5:c.A614C:p.E205A;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.A596C:p.E199A;ENSG00000154611:ENST00000308268:exon5:c.A614C:p.E205A;ENSG00000154611:ENST00000343848:exon5:c.A482C:p.E161A;	0.997237024865122	0.948
18	23758912	A	G	18	26178948	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.A482G:p.E161G;PSMA8:NM_001025096:exon5:c.A596G:p.E199G;PSMA8:NM_144662:exon5:c.A614G:p.E205G;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.A596G:p.E199G;ENSG00000154611:ENST00000308268:exon5:c.A614G:p.E205G;ENSG00000154611:ENST00000343848:exon5:c.A482G:p.E161G;	0.998624808304501	0.92
18	23758912	A	T	18	26178948	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.A482T:p.E161V;PSMA8:NM_001025096:exon5:c.A596T:p.E199V;PSMA8:NM_144662:exon5:c.A614T:p.E205V;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.A596T:p.E199V;ENSG00000154611:ENST00000308268:exon5:c.A614T:p.E205V;ENSG00000154611:ENST00000343848:exon5:c.A482T:p.E161V;	0.997589292321283	0.954
18	23758913	A	C	18	26178949	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.A483C:p.E161D;PSMA8:NM_001025096:exon5:c.A597C:p.E199D;PSMA8:NM_144662:exon5:c.A615C:p.E205D;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.A597C:p.E199D;ENSG00000154611:ENST00000308268:exon5:c.A615C:p.E205D;ENSG00000154611:ENST00000343848:exon5:c.A483C:p.E161D;	0.00360096465924423	0.12
18	23758913	A	G	18	26178949	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025097:exon5:c.A483G:p.E161E;PSMA8:NM_001025096:exon5:c.A597G:p.E199E;PSMA8:NM_144662:exon5:c.A615G:p.E205E;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.A597G:p.E199E;ENSG00000154611:ENST00000308268:exon5:c.A615G:p.E205E;ENSG00000154611:ENST00000343848:exon5:c.A483G:p.E161E;	1.78495426445967E-4	0.06
18	23758913	A	T	18	26178949	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon5:c.A483T:p.E161D;PSMA8:NM_001025096:exon5:c.A597T:p.E199D;PSMA8:NM_144662:exon5:c.A615T:p.E205D;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon5:c.A597T:p.E199D;ENSG00000154611:ENST00000308268:exon5:c.A615T:p.E205D;ENSG00000154611:ENST00000343848:exon5:c.A483T:p.E161D;	0.0244172103556515	0.084
18	23758914	G	A	18	26178950	y	y	splicing	PSMA8(NM_144662:exon5:c.615+1G>A;NM_001025097:exon5:c.483+1G>A;NM_001025096:exon5:c.597+1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.662+1G>A;ENST00000415576:exon5:c.597+1G>A;ENST00000343848:exon5:c.483+1G>A;ENST00000308268:exon5:c.615+1G>A)	.	.	0.999985532734767	0.938
18	23758914	G	C	18	26178950	y	y	splicing	PSMA8(NM_144662:exon5:c.615+1G>C;NM_001025097:exon5:c.483+1G>C;NM_001025096:exon5:c.597+1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.662+1G>C;ENST00000415576:exon5:c.597+1G>C;ENST00000343848:exon5:c.483+1G>C;ENST00000308268:exon5:c.615+1G>C)	.	.	0.999985532734767	0.936
18	23758914	G	T	18	26178950	y	y	splicing	PSMA8(NM_144662:exon5:c.615+1G>T;NM_001025097:exon5:c.483+1G>T;NM_001025096:exon5:c.597+1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.662+1G>T;ENST00000415576:exon5:c.597+1G>T;ENST00000343848:exon5:c.483+1G>T;ENST00000308268:exon5:c.615+1G>T)	.	.	0.999985532734767	0.938
18	23758915	T	A	18	26178951	y	y	splicing	PSMA8(NM_144662:exon5:c.615+2T>A;NM_001025097:exon5:c.483+2T>A;NM_001025096:exon5:c.597+2T>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.662+2T>A;ENST00000415576:exon5:c.597+2T>A;ENST00000343848:exon5:c.483+2T>A;ENST00000308268:exon5:c.615+2T>A)	.	.	0.999989917668626	0.928
18	23758915	T	C	18	26178951	y	y	splicing	PSMA8(NM_144662:exon5:c.615+2T>C;NM_001025097:exon5:c.483+2T>C;NM_001025096:exon5:c.597+2T>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.662+2T>C;ENST00000415576:exon5:c.597+2T>C;ENST00000343848:exon5:c.483+2T>C;ENST00000308268:exon5:c.615+2T>C)	.	.	0.992535761479193	0.63
18	23758915	T	G	18	26178951	y	y	splicing	PSMA8(NM_144662:exon5:c.615+2T>G;NM_001025097:exon5:c.483+2T>G;NM_001025096:exon5:c.597+2T>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon6:c.662+2T>G;ENST00000415576:exon5:c.597+2T>G;ENST00000343848:exon5:c.483+2T>G;ENST00000308268:exon5:c.615+2T>G)	.	.	0.999989917668626	0.928
18	23758916	A	C	18	26178952	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999817133933836	0.924
18	23758916	A	G	18	26178952	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.17860422271828	0.304
18	23758916	A	T	18	26178952	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.996683415458489	0.84
18	23758917	A	C	18	26178953	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.985779935378626	0.802
18	23758917	A	G	18	26178953	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.997461861325813	0.914
18	23758917	A	T	18	26178953	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.994035664451332	0.822
18	23758918	G	A	18	26178954	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.998061355282366	0.952
18	23758918	G	C	18	26178954	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.998982835733357	0.962
18	23758918	G	T	18	26178954	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.999780011489404	0.938
18	23758919	T	A	18	26178955	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.985218975247556	0.738
18	23758919	T	C	18	26178955	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.889812924081276	0.688
18	23758919	T	G	18	26178955	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.968604698302146	0.748
18	23758920	G	A	18	26178956	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.46041411234563E-4	0.064
18	23758920	G	C	18	26178956	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00207304177234855	0.012
18	23758920	G	T	18	26178956	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	8.8551835119743E-4	0.01
18	23758921	A	C	18	26178957	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.83428396237351E-4	0.034
18	23758921	A	G	18	26178957	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	5.73754175113025E-4	0.09
18	23758921	A	T	18	26178957	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.83428396237351E-4	0.01
18	23759020	G	A	18	26179056	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.77586366479973E-5	0.004
18	23759020	G	C	18	26179056	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.47262230467101E-5	0.0
18	23759020	G	T	18	26179056	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.79032890575906E-5	0.004
18	23759021	T	A	18	26179057	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.837273892845937	0.698
18	23759021	T	C	18	26179057	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.010042173278466	0.292
18	23759021	T	G	18	26179057	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.765793357487336	0.636
18	23759022	T	A	18	26179058	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.214919200198284	0.414
18	23759022	T	C	18	26179058	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.75355195893825E-4	0.036
18	23759022	T	G	18	26179058	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.234992294564642	0.434
18	23759023	C	A	18	26179059	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0129252034526107	0.146
18	23759023	C	G	18	26179059	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00303104689389542	0.1
18	23759023	C	T	18	26179059	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.46846734330107E-4	0.008
18	23759024	T	A	18	26179060	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0305142078286439	0.148
18	23759024	T	C	18	26179060	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.44689879158491E-4	0.004
18	23759024	T	G	18	26179060	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0280826933049144	0.23
18	23759025	A	C	18	26179061	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	4.18744412369589E-4	0.024
18	23759025	A	G	18	26179061	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00229652444306262	0.036
18	23759025	A	T	18	26179061	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.98062459273511E-4	0.018
18	23759026	C	A	18	26179062	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00155934804495255	0.21
18	23759026	C	G	18	26179062	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.986213580769209	0.918
18	23759026	C	T	18	26179062	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.20191745158811E-5	0.0
18	23759027	A	C	18	26179063	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.83048407851972E-4	0.03
18	23759027	A	G	18	26179063	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.4741114823973E-4	0.004
18	23759027	A	T	18	26179063	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.66790154782376E-4	0.058
18	23759028	T	A	18	26179064	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.63256276144637E-4	0.006
18	23759028	T	C	18	26179064	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.9685121820783E-5	0.002
18	23759028	T	G	18	26179064	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.952436597789418	0.762
18	23759029	T	A	18	26179065	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.529487619070951	0.506
18	23759029	T	C	18	26179065	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	7.68250231917062E-5	0.064
18	23759029	T	G	18	26179065	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.998383690478397	0.78
18	23759030	A	C	18	26179066	y	y	splicing	PSMA8(NM_144662:exon6:c.616-2A>C;NM_001025097:exon6:c.484-2A>C;NM_001025096:exon6:c.598-2A>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.663-2A>C;ENST00000415576:exon6:c.598-2A>C;ENST00000343848:exon6:c.484-2A>C;ENST00000308268:exon6:c.616-2A>C)	.	.	0.999989917668626	0.926
18	23759030	A	G	18	26179066	y	y	splicing	PSMA8(NM_144662:exon6:c.616-2A>G;NM_001025097:exon6:c.484-2A>G;NM_001025096:exon6:c.598-2A>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.663-2A>G;ENST00000415576:exon6:c.598-2A>G;ENST00000343848:exon6:c.484-2A>G;ENST00000308268:exon6:c.616-2A>G)	.	.	0.999989917668626	0.926
18	23759030	A	T	18	26179066	y	y	splicing	PSMA8(NM_144662:exon6:c.616-2A>T;NM_001025097:exon6:c.484-2A>T;NM_001025096:exon6:c.598-2A>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.663-2A>T;ENST00000415576:exon6:c.598-2A>T;ENST00000343848:exon6:c.484-2A>T;ENST00000308268:exon6:c.616-2A>T)	.	.	0.999989917668626	0.926
18	23759031	G	A	18	26179067	y	y	splicing	PSMA8(NM_144662:exon6:c.616-1G>A;NM_001025097:exon6:c.484-1G>A;NM_001025096:exon6:c.598-1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.663-1G>A;ENST00000415576:exon6:c.598-1G>A;ENST00000343848:exon6:c.484-1G>A;ENST00000308268:exon6:c.616-1G>A)	.	.	0.999981760802075	0.942
18	23759031	G	C	18	26179067	y	y	splicing	PSMA8(NM_144662:exon6:c.616-1G>C;NM_001025097:exon6:c.484-1G>C;NM_001025096:exon6:c.598-1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.663-1G>C;ENST00000415576:exon6:c.598-1G>C;ENST00000343848:exon6:c.484-1G>C;ENST00000308268:exon6:c.616-1G>C)	.	.	0.999981760802075	0.942
18	23759031	G	T	18	26179067	y	y	splicing	PSMA8(NM_144662:exon6:c.616-1G>T;NM_001025097:exon6:c.484-1G>T;NM_001025096:exon6:c.598-1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.663-1G>T;ENST00000415576:exon6:c.598-1G>T;ENST00000343848:exon6:c.484-1G>T;ENST00000308268:exon6:c.616-1G>T)	.	.	0.999981760802075	0.942
18	23759032	G	A	18	26179068	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.G484A:p.V162I;PSMA8:NM_001025096:exon6:c.G598A:p.V200I;PSMA8:NM_144662:exon6:c.G616A:p.V206I;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.G598A:p.V200I;ENSG00000154611:ENST00000308268:exon6:c.G616A:p.V206I;ENSG00000154611:ENST00000343848:exon6:c.G484A:p.V162I;	0.999555790888856	0.948
18	23759032	G	C	18	26179068	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.G484C:p.V162L;PSMA8:NM_001025096:exon6:c.G598C:p.V200L;PSMA8:NM_144662:exon6:c.G616C:p.V206L;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.G598C:p.V200L;ENSG00000154611:ENST00000308268:exon6:c.G616C:p.V206L;ENSG00000154611:ENST00000343848:exon6:c.G484C:p.V162L;	0.99989025257687	0.972
18	23759032	G	T	18	26179068	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.G484T:p.V162F;PSMA8:NM_001025096:exon6:c.G598T:p.V200F;PSMA8:NM_144662:exon6:c.G616T:p.V206F;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.G598T:p.V200F;ENSG00000154611:ENST00000308268:exon6:c.G616T:p.V206F;ENSG00000154611:ENST00000343848:exon6:c.G484T:p.V162F;	0.999947091468984	1.0
18	23759033	T	A	18	26179069	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.T485A:p.V162D;PSMA8:NM_001025096:exon6:c.T599A:p.V200D;PSMA8:NM_144662:exon6:c.T617A:p.V206D;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.T599A:p.V200D;ENSG00000154611:ENST00000308268:exon6:c.T617A:p.V206D;ENSG00000154611:ENST00000343848:exon6:c.T485A:p.V162D;	0.503123490691346	0.332
18	23759033	T	C	18	26179069	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.T485C:p.V162A;PSMA8:NM_001025096:exon6:c.T599C:p.V200A;PSMA8:NM_144662:exon6:c.T617C:p.V206A;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.T599C:p.V200A;ENSG00000154611:ENST00000308268:exon6:c.T617C:p.V206A;ENSG00000154611:ENST00000343848:exon6:c.T485C:p.V162A;	0.642837372917028	0.4
18	23759033	T	G	18	26179069	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.T485G:p.V162G;PSMA8:NM_001025096:exon6:c.T599G:p.V200G;PSMA8:NM_144662:exon6:c.T617G:p.V206G;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.T599G:p.V200G;ENSG00000154611:ENST00000308268:exon6:c.T617G:p.V206G;ENSG00000154611:ENST00000343848:exon6:c.T485G:p.V162G;	0.423494595704992	0.306
18	23759092	A	C	18	26179128	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.A544C:p.K182Q;PSMA8:NM_001025096:exon6:c.A658C:p.K220Q;PSMA8:NM_144662:exon6:c.A676C:p.K226Q;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.A658C:p.K220Q;ENSG00000154611:ENST00000308268:exon6:c.A676C:p.K226Q;ENSG00000154611:ENST00000343848:exon6:c.A544C:p.K182Q;	0.00510657692486843	0.034
18	23759092	A	G	18	26179128	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.A544G:p.K182E;PSMA8:NM_001025096:exon6:c.A658G:p.K220E;PSMA8:NM_144662:exon6:c.A676G:p.K226E;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.A658G:p.K220E;ENSG00000154611:ENST00000308268:exon6:c.A676G:p.K226E;ENSG00000154611:ENST00000343848:exon6:c.A544G:p.K182E;	0.00281054417604654	0.044
18	23759092	A	T	18	26179128	y	y	exonic	PSMA8	stopgain SNV	PSMA8:NM_001025097:exon6:c.A544T:p.K182X;PSMA8:NM_001025096:exon6:c.A658T:p.K220X;PSMA8:NM_144662:exon6:c.A676T:p.K226X;	exonic	ENSG00000154611	stopgain SNV	ENSG00000154611:ENST00000415576:exon6:c.A658T:p.K220X;ENSG00000154611:ENST00000308268:exon6:c.A676T:p.K226X;ENSG00000154611:ENST00000343848:exon6:c.A544T:p.K182X;	0.957241718264714	0.622
18	23759093	A	C	18	26179129	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.A545C:p.K182T;PSMA8:NM_001025096:exon6:c.A659C:p.K220T;PSMA8:NM_144662:exon6:c.A677C:p.K226T;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.A659C:p.K220T;ENSG00000154611:ENST00000308268:exon6:c.A677C:p.K226T;ENSG00000154611:ENST00000343848:exon6:c.A545C:p.K182T;	0.993751828777043	0.712
18	23759093	A	G	18	26179129	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.A545G:p.K182R;PSMA8:NM_001025096:exon6:c.A659G:p.K220R;PSMA8:NM_144662:exon6:c.A677G:p.K226R;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.A659G:p.K220R;ENSG00000154611:ENST00000308268:exon6:c.A677G:p.K226R;ENSG00000154611:ENST00000343848:exon6:c.A545G:p.K182R;	0.393506169889149	0.37
18	23759093	A	T	18	26179129	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.A545T:p.K182M;PSMA8:NM_001025096:exon6:c.A659T:p.K220M;PSMA8:NM_144662:exon6:c.A677T:p.K226M;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.A659T:p.K220M;ENSG00000154611:ENST00000308268:exon6:c.A677T:p.K226M;ENSG00000154611:ENST00000343848:exon6:c.A545T:p.K182M;	0.989456055893813	0.648
18	23759094	G	A	18	26179130	y	y	exonic	PSMA8	synonymous SNV	PSMA8:NM_001025097:exon6:c.G546A:p.K182K;PSMA8:NM_001025096:exon6:c.G660A:p.K220K;PSMA8:NM_144662:exon6:c.G678A:p.K226K;	exonic	ENSG00000154611	synonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.G660A:p.K220K;ENSG00000154611:ENST00000308268:exon6:c.G678A:p.K226K;ENSG00000154611:ENST00000343848:exon6:c.G546A:p.K182K;	0.31474123133283	0.392
18	23759094	G	C	18	26179130	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.G546C:p.K182N;PSMA8:NM_001025096:exon6:c.G660C:p.K220N;PSMA8:NM_144662:exon6:c.G678C:p.K226N;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.G660C:p.K220N;ENSG00000154611:ENST00000308268:exon6:c.G678C:p.K226N;ENSG00000154611:ENST00000343848:exon6:c.G546C:p.K182N;	0.709461337614763	0.558
18	23759094	G	T	18	26179130	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon6:c.G546T:p.K182N;PSMA8:NM_001025096:exon6:c.G660T:p.K220N;PSMA8:NM_144662:exon6:c.G678T:p.K226N;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon6:c.G660T:p.K220N;ENSG00000154611:ENST00000308268:exon6:c.G678T:p.K226N;ENSG00000154611:ENST00000343848:exon6:c.G546T:p.K182N;	0.958871973452592	0.628
18	23759095	G	A	18	26179131	y	y	splicing	PSMA8(NM_144662:exon6:c.678+1G>A;NM_001025097:exon6:c.546+1G>A;NM_001025096:exon6:c.660+1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.725+1G>A;ENST00000415576:exon6:c.660+1G>A;ENST00000343848:exon6:c.546+1G>A;ENST00000308268:exon6:c.678+1G>A)	.	.	0.999976206550861	0.922
18	23759095	G	C	18	26179131	y	y	splicing	PSMA8(NM_144662:exon6:c.678+1G>C;NM_001025097:exon6:c.546+1G>C;NM_001025096:exon6:c.660+1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.725+1G>C;ENST00000415576:exon6:c.660+1G>C;ENST00000343848:exon6:c.546+1G>C;ENST00000308268:exon6:c.678+1G>C)	.	.	0.999976206550861	0.922
18	23759095	G	T	18	26179131	y	y	splicing	PSMA8(NM_144662:exon6:c.678+1G>T;NM_001025097:exon6:c.546+1G>T;NM_001025096:exon6:c.660+1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.725+1G>T;ENST00000415576:exon6:c.660+1G>T;ENST00000343848:exon6:c.546+1G>T;ENST00000308268:exon6:c.678+1G>T)	.	.	0.999976206550861	0.9
18	23759096	T	A	18	26179132	y	y	splicing	PSMA8(NM_144662:exon6:c.678+2T>A;NM_001025097:exon6:c.546+2T>A;NM_001025096:exon6:c.660+2T>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.725+2T>A;ENST00000415576:exon6:c.660+2T>A;ENST00000343848:exon6:c.546+2T>A;ENST00000308268:exon6:c.678+2T>A)	.	.	0.999988247793601	0.928
18	23759096	T	C	18	26179132	y	y	splicing	PSMA8(NM_144662:exon6:c.678+2T>C;NM_001025097:exon6:c.546+2T>C;NM_001025096:exon6:c.660+2T>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.725+2T>C;ENST00000415576:exon6:c.660+2T>C;ENST00000343848:exon6:c.546+2T>C;ENST00000308268:exon6:c.678+2T>C)	.	.	0.992783534660112	0.64
18	23759096	T	G	18	26179132	y	y	splicing	PSMA8(NM_144662:exon6:c.678+2T>G;NM_001025097:exon6:c.546+2T>G;NM_001025096:exon6:c.660+2T>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon7:c.725+2T>G;ENST00000415576:exon6:c.660+2T>G;ENST00000343848:exon6:c.546+2T>G;ENST00000308268:exon6:c.678+2T>G)	.	.	0.999988247793601	0.928
18	23759097	A	C	18	26179133	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.612865602534358	0.594
18	23759097	A	G	18	26179133	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00128475578825215	0.062
18	23759097	A	T	18	26179133	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.38663899140685	0.474
18	23759098	A	C	18	26179134	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0377939871677836	0.254
18	23759098	A	G	18	26179134	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0226223349085037	0.292
18	23759098	A	T	18	26179134	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0265568872265486	0.206
18	23759099	G	A	18	26179135	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.45191731817132	0.452
18	23759099	G	C	18	26179135	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.452830451518794	0.42
18	23759099	G	T	18	26179135	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.441448941451091	0.444
18	23759100	T	A	18	26179136	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.482750687264565	0.422
18	23759100	T	C	18	26179136	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.579629073427295	0.34
18	23759100	T	G	18	26179136	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.442466876722814	0.242
18	23759101	C	A	18	26179137	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	7.30127177594752E-5	0.008
18	23759101	C	G	18	26179137	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.27477746119029E-5	0.0
18	23759101	C	T	18	26179137	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.02728736892418E-4	0.006
18	23759102	A	C	18	26179138	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.80257671126134E-4	0.004
18	23759102	A	G	18	26179138	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	7.77282158008052E-4	0.002
18	23759102	A	T	18	26179138	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.80257671126134E-4	0.0
18	23772271	T	A	18	26192307	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00413043339316002	0.184
18	23772271	T	C	18	26192307	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00135360962587032	0.028
18	23772271	T	G	18	26192307	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00212694048916581	0.138
18	23772272	T	A	18	26192308	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0139571710412285	0.25
18	23772272	T	C	18	26192308	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00152889503084813	0.038
18	23772272	T	G	18	26192308	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00209943772578085	0.112
18	23772273	C	A	18	26192309	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.43034047660715E-4	0.042
18	23772273	C	G	18	26192309	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.73154629546761E-4	0.038
18	23772273	C	T	18	26192309	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	6.35914510034158E-5	0.002
18	23772274	T	A	18	26192310	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.308395450981646	0.562
18	23772274	T	C	18	26192310	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.193591079985879	0.482
18	23772274	T	G	18	26192310	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.285437234081332	0.522
18	23772275	C	A	18	26192311	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.65932087373739E-4	0.07
18	23772275	C	G	18	26192311	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.92764529529638E-4	0.036
18	23772275	C	T	18	26192311	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	3.91264670761679E-4	0.006
18	23772276	T	A	18	26192312	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0015693438811176	0.086
18	23772276	T	C	18	26192312	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.78513816638239E-4	0.004
18	23772276	T	G	18	26192312	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00147215211702025	0.078
18	23772277	T	A	18	26192313	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.7924871289606E-4	0.238
18	23772277	T	C	18	26192313	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.43968862750389E-4	0.018
18	23772277	T	G	18	26192313	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00163758944556349	0.182
18	23772278	T	A	18	26192314	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00190971982015223	0.12
18	23772278	T	C	18	26192314	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.1024841961041E-4	0.02
18	23772278	T	G	18	26192314	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.00204624814099027	0.15
18	23772279	T	A	18	26192315	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	2.45995934757411E-4	0.01
18	23772279	T	C	18	26192315	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	1.9703037194655E-4	0.004
18	23772279	T	G	18	26192315	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	9.33310431145732E-5	0.002
18	23772280	C	A	18	26192316	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.3532635487364	0.496
18	23772280	C	G	18	26192316	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.998958333376485	0.866
18	23772280	C	T	18	26192316	y	y	intronic	PSMA8	.	.	intronic	ENSG00000154611	.	.	0.0192197844785665	0.218
18	23772281	A	C	18	26192317	y	y	splicing	PSMA8(NM_144662:exon7:c.679-2A>C;NM_001025097:exon7:c.547-2A>C;NM_001025096:exon7:c.661-2A>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon8:c.726-2A>C;ENST00000415576:exon7:c.661-2A>C;ENST00000343848:exon7:c.547-2A>C;ENST00000308268:exon7:c.679-2A>C)	.	.	0.999989917668626	0.926
18	23772281	A	G	18	26192317	y	y	splicing	PSMA8(NM_144662:exon7:c.679-2A>G;NM_001025097:exon7:c.547-2A>G;NM_001025096:exon7:c.661-2A>G)	.	.	splicing	ENSG00000154611(ENST00000538664:exon8:c.726-2A>G;ENST00000415576:exon7:c.661-2A>G;ENST00000343848:exon7:c.547-2A>G;ENST00000308268:exon7:c.679-2A>G)	.	.	0.999989917668626	0.926
18	23772281	A	T	18	26192317	y	y	splicing	PSMA8(NM_144662:exon7:c.679-2A>T;NM_001025097:exon7:c.547-2A>T;NM_001025096:exon7:c.661-2A>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon8:c.726-2A>T;ENST00000415576:exon7:c.661-2A>T;ENST00000343848:exon7:c.547-2A>T;ENST00000308268:exon7:c.679-2A>T)	.	.	0.999989917668626	0.926
18	23772282	G	A	18	26192318	y	y	splicing	PSMA8(NM_144662:exon7:c.679-1G>A;NM_001025097:exon7:c.547-1G>A;NM_001025096:exon7:c.661-1G>A)	.	.	splicing	ENSG00000154611(ENST00000538664:exon8:c.726-1G>A;ENST00000415576:exon7:c.661-1G>A;ENST00000343848:exon7:c.547-1G>A;ENST00000308268:exon7:c.679-1G>A)	.	.	0.999986851589775	0.936
18	23772282	G	C	18	26192318	y	y	splicing	PSMA8(NM_144662:exon7:c.679-1G>C;NM_001025097:exon7:c.547-1G>C;NM_001025096:exon7:c.661-1G>C)	.	.	splicing	ENSG00000154611(ENST00000538664:exon8:c.726-1G>C;ENST00000415576:exon7:c.661-1G>C;ENST00000343848:exon7:c.547-1G>C;ENST00000308268:exon7:c.679-1G>C)	.	.	0.999985079902336	0.936
18	23772282	G	T	18	26192318	y	y	splicing	PSMA8(NM_144662:exon7:c.679-1G>T;NM_001025097:exon7:c.547-1G>T;NM_001025096:exon7:c.661-1G>T)	.	.	splicing	ENSG00000154611(ENST00000538664:exon8:c.726-1G>T;ENST00000415576:exon7:c.661-1G>T;ENST00000343848:exon7:c.547-1G>T;ENST00000308268:exon7:c.679-1G>T)	.	.	0.999985079902336	0.936
18	23772283	A	C	18	26192319	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon7:c.A547C:p.M183L;PSMA8:NM_001025096:exon7:c.A661C:p.M221L;PSMA8:NM_144662:exon7:c.A679C:p.M227L;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon7:c.A661C:p.M221L;ENSG00000154611:ENST00000308268:exon7:c.A679C:p.M227L;ENSG00000154611:ENST00000343848:exon7:c.A547C:p.M183L;	0.0175421968392641	0.118
18	23772283	A	G	18	26192319	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon7:c.A547G:p.M183V;PSMA8:NM_001025096:exon7:c.A661G:p.M221V;PSMA8:NM_144662:exon7:c.A679G:p.M227V;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon7:c.A661G:p.M221V;ENSG00000154611:ENST00000308268:exon7:c.A679G:p.M227V;ENSG00000154611:ENST00000343848:exon7:c.A547G:p.M183V;	0.00107629915233992	0.016
18	23772283	A	T	18	26192319	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon7:c.A547T:p.M183L;PSMA8:NM_001025096:exon7:c.A661T:p.M221L;PSMA8:NM_144662:exon7:c.A679T:p.M227L;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon7:c.A661T:p.M221L;ENSG00000154611:ENST00000308268:exon7:c.A679T:p.M227L;ENSG00000154611:ENST00000343848:exon7:c.A547T:p.M183L;	0.0250765033471056	0.162
18	23772284	T	A	18	26192320	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon7:c.T548A:p.M183K;PSMA8:NM_001025096:exon7:c.T662A:p.M221K;PSMA8:NM_144662:exon7:c.T680A:p.M227K;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon7:c.T662A:p.M221K;ENSG00000154611:ENST00000308268:exon7:c.T680A:p.M227K;ENSG00000154611:ENST00000343848:exon7:c.T548A:p.M183K;	0.143437203172472	0.354
18	23772284	T	C	18	26192320	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon7:c.T548C:p.M183T;PSMA8:NM_001025096:exon7:c.T662C:p.M221T;PSMA8:NM_144662:exon7:c.T680C:p.M227T;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon7:c.T662C:p.M221T;ENSG00000154611:ENST00000308268:exon7:c.T680C:p.M227T;ENSG00000154611:ENST00000343848:exon7:c.T548C:p.M183T;	0.0129316978357147	0.116
18	23772284	T	G	18	26192320	y	y	exonic	PSMA8	nonsynonymous SNV	PSMA8:NM_001025097:exon7:c.T548G:p.M183R;PSMA8:NM_001025096:exon7:c.T662G:p.M221R;PSMA8:NM_144662:exon7:c.T680G:p.M227R;	exonic	ENSG00000154611	nonsynonymous SNV	ENSG00000154611:ENST00000415576:exon7:c.T662G:p.M221R;ENSG00000154611:ENST00000308268:exon7:c.T680G:p.M227R;ENSG00000154611:ENST00000343848:exon7:c.T548G:p.M183R;	0.0133439475213961	0.12
18	23807238	C	A	18	26227274	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon1:c.C341A:p.P114Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon1:c.C341A:p.P114Q;ENSG00000141384:ENST00000400466:exon1:c.C341A:p.P114Q;ENSG00000141384:ENST00000418698:exon1:c.C341A:p.P114Q;ENSG00000141384:ENST00000578121:exon1:c.C341A:p.P114Q;	0.0139894357086093	0.128
18	23807238	C	G	18	26227274	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon1:c.C341G:p.P114R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon1:c.C341G:p.P114R;ENSG00000141384:ENST00000400466:exon1:c.C341G:p.P114R;ENSG00000141384:ENST00000418698:exon1:c.C341G:p.P114R;ENSG00000141384:ENST00000578121:exon1:c.C341G:p.P114R;	0.0124814310783131	0.09
18	23807238	C	T	18	26227274	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon1:c.C341T:p.P114L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon1:c.C341T:p.P114L;ENSG00000141384:ENST00000400466:exon1:c.C341T:p.P114L;ENSG00000141384:ENST00000418698:exon1:c.C341T:p.P114L;ENSG00000141384:ENST00000578121:exon1:c.C341T:p.P114L;	0.573030820164562	0.518
18	23807239	A	C	18	26227275	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon1:c.A342C:p.P114P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon1:c.A342C:p.P114P;ENSG00000141384:ENST00000400466:exon1:c.A342C:p.P114P;ENSG00000141384:ENST00000418698:exon1:c.A342C:p.P114P;ENSG00000141384:ENST00000578121:exon1:c.A342C:p.P114P;	0.793788006192426	0.628
18	23807239	A	G	18	26227275	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon1:c.A342G:p.P114P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon1:c.A342G:p.P114P;ENSG00000141384:ENST00000400466:exon1:c.A342G:p.P114P;ENSG00000141384:ENST00000418698:exon1:c.A342G:p.P114P;ENSG00000141384:ENST00000578121:exon1:c.A342G:p.P114P;	0.873848192878858	0.598
18	23807239	A	T	18	26227275	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon1:c.A342T:p.P114P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon1:c.A342T:p.P114P;ENSG00000141384:ENST00000400466:exon1:c.A342T:p.P114P;ENSG00000141384:ENST00000418698:exon1:c.A342T:p.P114P;ENSG00000141384:ENST00000578121:exon1:c.A342T:p.P114P;	0.965036637207402	0.702
18	23807240	G	A	18	26227276	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon1:c.G343A:p.G115R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon1:c.G343A:p.G115R;ENSG00000141384:ENST00000400466:exon1:c.G343A:p.G115R;ENSG00000141384:ENST00000418698:exon1:c.G343A:p.G115R;ENSG00000141384:ENST00000578121:exon1:c.G343A:p.G115R;	0.994999704954608	0.934
18	23807240	G	C	18	26227276	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon1:c.G343C:p.G115R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon1:c.G343C:p.G115R;ENSG00000141384:ENST00000400466:exon1:c.G343C:p.G115R;ENSG00000141384:ENST00000418698:exon1:c.G343C:p.G115R;ENSG00000141384:ENST00000578121:exon1:c.G343C:p.G115R;	0.993454802031456	0.816
18	23807240	G	T	18	26227276	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon1:c.G343T:p.G115X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon1:c.G343T:p.G115X;ENSG00000141384:ENST00000400466:exon1:c.G343T:p.G115X;ENSG00000141384:ENST00000418698:exon1:c.G343T:p.G115X;ENSG00000141384:ENST00000578121:exon1:c.G343T:p.G115X;	0.999958387572677	0.976
18	23807241	G	A	18	26227277	y	y	splicing	TAF4B(NM_005640:exon1:c.343+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon1:c.343+1G>A;ENST00000400466:exon1:c.343+1G>A;ENST00000578121:exon1:c.343+1G>A;ENST00000418698:exon1:c.343+1G>A)	.	.	0.999988247793601	0.926
18	23807241	G	C	18	26227277	y	y	splicing	TAF4B(NM_005640:exon1:c.343+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon1:c.343+1G>C;ENST00000400466:exon1:c.343+1G>C;ENST00000578121:exon1:c.343+1G>C;ENST00000418698:exon1:c.343+1G>C)	.	.	0.999988247793601	0.926
18	23807241	G	T	18	26227277	y	y	splicing	TAF4B(NM_005640:exon1:c.343+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon1:c.343+1G>T;ENST00000400466:exon1:c.343+1G>T;ENST00000578121:exon1:c.343+1G>T;ENST00000418698:exon1:c.343+1G>T)	.	.	0.999988247793601	0.926
18	23807242	T	A	18	26227278	y	y	splicing	TAF4B(NM_005640:exon1:c.343+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon1:c.343+2T>A;ENST00000400466:exon1:c.343+2T>A;ENST00000578121:exon1:c.343+2T>A;ENST00000418698:exon1:c.343+2T>A)	.	.	0.999993672935256	0.928
18	23807242	T	C	18	26227278	y	y	splicing	TAF4B(NM_005640:exon1:c.343+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon1:c.343+2T>C;ENST00000400466:exon1:c.343+2T>C;ENST00000578121:exon1:c.343+2T>C;ENST00000418698:exon1:c.343+2T>C)	.	.	0.981624169994899	0.584
18	23807242	T	G	18	26227278	y	y	splicing	TAF4B(NM_005640:exon1:c.343+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon1:c.343+2T>G;ENST00000400466:exon1:c.343+2T>G;ENST00000578121:exon1:c.343+2T>G;ENST00000418698:exon1:c.343+2T>G)	.	.	0.999993672935256	0.928
18	23807243	A	C	18	26227279	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.997904944216255	0.806
18	23807243	A	G	18	26227279	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.988867752685987	0.854
18	23807243	A	T	18	26227279	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998466813677609	0.814
18	23807244	T	A	18	26227280	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.54212354943719E-5	0.08
18	23807244	T	C	18	26227280	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.49543412690145E-4	0.052
18	23807244	T	G	18	26227280	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.01981996712956E-4	0.026
18	23807245	G	A	18	26227281	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999348174267184	0.808
18	23807245	G	C	18	26227281	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.997546867292914	0.774
18	23807245	G	T	18	26227281	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999620169794235	0.708
18	23807246	T	A	18	26227282	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.918653580661732	0.462
18	23807246	T	C	18	26227282	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.952119210184113	0.434
18	23807246	T	G	18	26227282	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.879287859748137	0.346
18	23807247	T	A	18	26227283	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37275544637619E-5	0.004
18	23807247	T	C	18	26227283	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.42052666328993E-5	0.004
18	23807247	T	G	18	26227283	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.53167677647009E-5	0.006
18	23807248	G	A	18	26227284	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00303982491891144	0.008
18	23807248	G	C	18	26227284	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00421120625931713	0.004
18	23807248	G	T	18	26227284	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00303982491891144	0.0
18	23845122	T	A	18	26265158	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.30561229515369	0.546
18	23845122	T	C	18	26265158	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.54949314683045E-4	0.042
18	23845122	T	G	18	26265158	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.282952509368871	0.514
18	23845123	T	A	18	26265159	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.171502116923767	0.362
18	23845123	T	C	18	26265159	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.76207482900057E-4	0.044
18	23845123	T	G	18	26265159	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.139468645916022	0.362
18	23845124	T	A	18	26265160	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.513740602003877	0.52
18	23845124	T	C	18	26265160	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.43796748061075E-4	0.034
18	23845124	T	G	18	26265160	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.576528295961798	0.458
18	23845125	T	A	18	26265161	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0523327351910539	0.248
18	23845125	T	C	18	26265161	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.49492574444623E-5	0.006
18	23845125	T	G	18	26265161	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0906277408160428	0.274
18	23845126	A	C	18	26265162	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.14127032101363E-5	0.0
18	23845126	A	G	18	26265162	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.51089117049885E-5	0.016
18	23845126	A	T	18	26265162	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.14814443375792E-5	0.0
18	23845127	A	C	18	26265163	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.98264228314991E-4	0.006
18	23845127	A	G	18	26265163	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998471822209493	0.888
18	23845127	A	T	18	26265163	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.93469360508961E-4	0.006
18	23845128	A	C	18	26265164	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.65047354028333E-5	0.0
18	23845128	A	G	18	26265164	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.694278917059324	0.936
18	23845128	A	T	18	26265164	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.65047354028333E-5	0.0
18	23845129	T	A	18	26265165	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.175585899958774	0.456
18	23845129	T	C	18	26265165	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.93558087022381E-4	0.032
18	23845129	T	G	18	26265165	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998639827883026	0.926
18	23845130	A	C	18	26265166	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.81724941317156E-5	0.0
18	23845130	A	G	18	26265166	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.25839123057781E-4	0.022
18	23845130	A	T	18	26265166	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.8750057845333E-5	0.008
18	23845131	T	A	18	26265167	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0158615188267469	0.268
18	23845131	T	C	18	26265167	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.78362197637196E-5	0.014
18	23845131	T	G	18	26265167	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.984737070143837	0.682
18	23845132	A	C	18	26265168	y	y	splicing	TAF4B(NM_005640:exon2:c.344-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.344-2A>C;ENST00000400466:exon2:c.344-2A>C;ENST00000578121:exon2:c.344-2A>C;ENST00000418698:exon2:c.344-2A>C)	.	.	0.999962958601995	0.83
18	23845132	A	G	18	26265168	y	y	splicing	TAF4B(NM_005640:exon2:c.344-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.344-2A>G;ENST00000400466:exon2:c.344-2A>G;ENST00000578121:exon2:c.344-2A>G;ENST00000418698:exon2:c.344-2A>G)	.	.	0.999962958601995	0.83
18	23845132	A	T	18	26265168	y	y	splicing	TAF4B(NM_005640:exon2:c.344-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.344-2A>T;ENST00000400466:exon2:c.344-2A>T;ENST00000578121:exon2:c.344-2A>T;ENST00000418698:exon2:c.344-2A>T)	.	.	0.999969255906173	0.844
18	23845133	G	A	18	26265169	y	y	splicing	TAF4B(NM_005640:exon2:c.344-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.344-1G>A;ENST00000400466:exon2:c.344-1G>A;ENST00000578121:exon2:c.344-1G>A;ENST00000418698:exon2:c.344-1G>A)	.	.	0.999965143305126	0.876
18	23845133	G	C	18	26265169	y	y	splicing	TAF4B(NM_005640:exon2:c.344-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.344-1G>C;ENST00000400466:exon2:c.344-1G>C;ENST00000578121:exon2:c.344-1G>C;ENST00000418698:exon2:c.344-1G>C)	.	.	0.999958003653399	0.862
18	23845133	G	T	18	26265169	y	y	splicing	TAF4B(NM_005640:exon2:c.344-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.344-1G>T;ENST00000400466:exon2:c.344-1G>T;ENST00000578121:exon2:c.344-1G>T;ENST00000418698:exon2:c.344-1G>T)	.	.	0.999965143305126	0.866
18	23845134	G	A	18	26265170	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.G344A:p.G115E;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.G344A:p.G115E;ENSG00000141384:ENST00000400466:exon2:c.G344A:p.G115E;ENSG00000141384:ENST00000418698:exon2:c.G344A:p.G115E;ENSG00000141384:ENST00000578121:exon2:c.G344A:p.G115E;	0.404141721552829	0.554
18	23845134	G	C	18	26265170	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.G344C:p.G115A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.G344C:p.G115A;ENSG00000141384:ENST00000400466:exon2:c.G344C:p.G115A;ENSG00000141384:ENST00000418698:exon2:c.G344C:p.G115A;ENSG00000141384:ENST00000578121:exon2:c.G344C:p.G115A;	0.92885135300161	0.574
18	23845134	G	T	18	26265170	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.G344T:p.G115V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.G344T:p.G115V;ENSG00000141384:ENST00000400466:exon2:c.G344T:p.G115V;ENSG00000141384:ENST00000418698:exon2:c.G344T:p.G115V;ENSG00000141384:ENST00000578121:exon2:c.G344T:p.G115V;	0.993921603034853	0.634
18	23845135	A	C	18	26265171	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon2:c.A345C:p.G115G;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.A345C:p.G115G;ENSG00000141384:ENST00000400466:exon2:c.A345C:p.G115G;ENSG00000141384:ENST00000418698:exon2:c.A345C:p.G115G;ENSG00000141384:ENST00000578121:exon2:c.A345C:p.G115G;	3.68683612545383E-4	0.01
18	23845135	A	G	18	26265171	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon2:c.A345G:p.G115G;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.A345G:p.G115G;ENSG00000141384:ENST00000400466:exon2:c.A345G:p.G115G;ENSG00000141384:ENST00000418698:exon2:c.A345G:p.G115G;ENSG00000141384:ENST00000578121:exon2:c.A345G:p.G115G;	2.27470177462647E-4	0.014
18	23845135	A	T	18	26265171	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon2:c.A345T:p.G115G;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.A345T:p.G115G;ENSG00000141384:ENST00000400466:exon2:c.A345T:p.G115G;ENSG00000141384:ENST00000418698:exon2:c.A345T:p.G115G;ENSG00000141384:ENST00000578121:exon2:c.A345T:p.G115G;	2.42116636387162E-4	0.0
18	23845277	C	A	18	26265313	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.C487A:p.P163T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.C487A:p.P163T;ENSG00000141384:ENST00000400466:exon2:c.C487A:p.P163T;ENSG00000141384:ENST00000418698:exon2:c.C487A:p.P163T;ENSG00000141384:ENST00000578121:exon2:c.C487A:p.P163T;	1.46644477959946E-4	0.044
18	23845277	C	G	18	26265313	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.C487G:p.P163A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.C487G:p.P163A;ENSG00000141384:ENST00000400466:exon2:c.C487G:p.P163A;ENSG00000141384:ENST00000418698:exon2:c.C487G:p.P163A;ENSG00000141384:ENST00000578121:exon2:c.C487G:p.P163A;	9.36701338262815E-4	0.11
18	23845277	C	T	18	26265313	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.C487T:p.P163S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.C487T:p.P163S;ENSG00000141384:ENST00000400466:exon2:c.C487T:p.P163S;ENSG00000141384:ENST00000418698:exon2:c.C487T:p.P163S;ENSG00000141384:ENST00000578121:exon2:c.C487T:p.P163S;	0.00173010516972008	0.268
18	23845278	C	A	18	26265314	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.C488A:p.P163Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.C488A:p.P163Q;ENSG00000141384:ENST00000400466:exon2:c.C488A:p.P163Q;ENSG00000141384:ENST00000418698:exon2:c.C488A:p.P163Q;ENSG00000141384:ENST00000578121:exon2:c.C488A:p.P163Q;	6.55740777579984E-4	0.256
18	23845278	C	G	18	26265314	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.C488G:p.P163R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.C488G:p.P163R;ENSG00000141384:ENST00000400466:exon2:c.C488G:p.P163R;ENSG00000141384:ENST00000418698:exon2:c.C488G:p.P163R;ENSG00000141384:ENST00000578121:exon2:c.C488G:p.P163R;	9.04195997770147E-4	0.068
18	23845278	C	T	18	26265314	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon2:c.C488T:p.P163L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.C488T:p.P163L;ENSG00000141384:ENST00000400466:exon2:c.C488T:p.P163L;ENSG00000141384:ENST00000418698:exon2:c.C488T:p.P163L;ENSG00000141384:ENST00000578121:exon2:c.C488T:p.P163L;	5.78801475962711E-4	0.026
18	23845279	G	A	18	26265315	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon2:c.G489A:p.P163P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.G489A:p.P163P;ENSG00000141384:ENST00000400466:exon2:c.G489A:p.P163P;ENSG00000141384:ENST00000418698:exon2:c.G489A:p.P163P;ENSG00000141384:ENST00000578121:exon2:c.G489A:p.P163P;	0.999983625595651	0.992
18	23845279	G	C	18	26265315	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon2:c.G489C:p.P163P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.G489C:p.P163P;ENSG00000141384:ENST00000400466:exon2:c.G489C:p.P163P;ENSG00000141384:ENST00000418698:exon2:c.G489C:p.P163P;ENSG00000141384:ENST00000578121:exon2:c.G489C:p.P163P;	0.999996337178446	0.99
18	23845279	G	T	18	26265315	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon2:c.G489T:p.P163P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon2:c.G489T:p.P163P;ENSG00000141384:ENST00000400466:exon2:c.G489T:p.P163P;ENSG00000141384:ENST00000418698:exon2:c.G489T:p.P163P;ENSG00000141384:ENST00000578121:exon2:c.G489T:p.P163P;	0.999985533021312	0.984
18	23845280	G	A	18	26265316	y	y	splicing	TAF4B(NM_005640:exon2:c.489+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.489+1G>A;ENST00000400466:exon2:c.489+1G>A;ENST00000578121:exon2:c.489+1G>A;ENST00000418698:exon2:c.489+1G>A)	.	.	0.999958003653399	0.828
18	23845280	G	C	18	26265316	y	y	splicing	TAF4B(NM_005640:exon2:c.489+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.489+1G>C;ENST00000400466:exon2:c.489+1G>C;ENST00000578121:exon2:c.489+1G>C;ENST00000418698:exon2:c.489+1G>C)	.	.	0.999958003653399	0.814
18	23845280	G	T	18	26265316	y	y	splicing	TAF4B(NM_005640:exon2:c.489+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.489+1G>T;ENST00000400466:exon2:c.489+1G>T;ENST00000578121:exon2:c.489+1G>T;ENST00000418698:exon2:c.489+1G>T)	.	.	0.999958003653399	0.824
18	23845281	T	A	18	26265317	y	y	splicing	TAF4B(NM_005640:exon2:c.489+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.489+2T>A;ENST00000400466:exon2:c.489+2T>A;ENST00000578121:exon2:c.489+2T>A;ENST00000418698:exon2:c.489+2T>A)	.	.	0.999962958601995	0.812
18	23845281	T	C	18	26265317	y	y	splicing	TAF4B(NM_005640:exon2:c.489+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.489+2T>C;ENST00000400466:exon2:c.489+2T>C;ENST00000578121:exon2:c.489+2T>C;ENST00000418698:exon2:c.489+2T>C)	.	.	0.998821002388301	0.782
18	23845281	T	G	18	26265317	y	y	splicing	TAF4B(NM_005640:exon2:c.489+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon2:c.489+2T>G;ENST00000400466:exon2:c.489+2T>G;ENST00000578121:exon2:c.489+2T>G;ENST00000418698:exon2:c.489+2T>G)	.	.	0.999962958601995	0.806
18	23845282	A	C	18	26265318	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999700304246486	0.91
18	23845282	A	G	18	26265318	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999286059588722	0.744
18	23845282	A	T	18	26265318	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999577122862553	0.942
18	23845283	A	C	18	26265319	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.423310175995499	0.462
18	23845283	A	G	18	26265319	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.993579703764484	0.808
18	23845283	A	T	18	26265319	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.776704804174714	0.66
18	23845284	T	A	18	26265320	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.17059103163529E-4	0.004
18	23845284	T	C	18	26265320	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.40063204598848E-5	0.0
18	23845284	T	G	18	26265320	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.91911351857765E-4	0.128
18	23845285	A	C	18	26265321	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.51281229655382E-4	0.074
18	23845285	A	G	18	26265321	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.13425698997523E-5	0.054
18	23845285	A	T	18	26265321	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.44064276745591E-5	0.036
18	23845286	T	A	18	26265322	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.31447682094631E-5	0.0
18	23845286	T	C	18	26265322	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.53327113618878E-5	0.0
18	23845286	T	G	18	26265322	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.53327113618878E-5	0.002
18	23845287	A	C	18	26265323	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.58331501283803E-4	0.0
18	23845287	A	G	18	26265323	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.58331501283803E-4	0.002
18	23845287	A	T	18	26265323	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.13437739914617E-5	0.0
18	23847468	T	A	18	26267504	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.763035063569371	0.54
18	23847468	T	C	18	26267504	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.6899400245912E-4	0.236
18	23847468	T	G	18	26267504	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.76686225739213	0.53
18	23847469	C	A	18	26267505	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.118489947657848	0.196
18	23847469	C	G	18	26267505	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0664343253590573	0.22
18	23847469	C	T	18	26267505	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.17677000566411E-5	0.048
18	23847470	C	A	18	26267506	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.056494114393963	0.2
18	23847470	C	G	18	26267506	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0326604107475223	0.184
18	23847470	C	T	18	26267506	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00427984918579107	0.08
18	23847471	A	C	18	26267507	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.34469018296083E-4	0.052
18	23847471	A	G	18	26267507	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.58336204235746E-4	0.062
18	23847471	A	T	18	26267507	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.14265076627086E-4	0.05
18	23847472	C	A	18	26267508	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.438156760822762	0.312
18	23847472	C	G	18	26267508	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998763299517445	0.984
18	23847472	C	T	18	26267508	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.29983288935316E-5	0.136
18	23847473	C	A	18	26267509	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.953468120596079	0.842
18	23847473	C	G	18	26267509	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00922179188076412	0.314
18	23847473	C	T	18	26267509	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.85239924112849E-5	0.09
18	23847474	G	A	18	26267510	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.6244159017143E-5	0.05
18	23847474	G	C	18	26267510	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.42814467885913E-5	0.042
18	23847474	G	T	18	26267510	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.44567246961622E-5	0.004
18	23847475	C	A	18	26267511	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.012683776279339	0.21
18	23847475	C	G	18	26267511	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.010119430218164	0.23
18	23847475	C	T	18	26267511	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.96011804374903E-5	0.02
18	23847476	C	A	18	26267512	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.38532705020568E-5	0.146
18	23847476	C	G	18	26267512	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.35670335079851E-5	0.144
18	23847476	C	T	18	26267512	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.38532705020568E-5	0.146
18	23847477	A	C	18	26267513	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.10219659116071E-4	0.152
18	23847477	A	G	18	26267513	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0237725162490429	0.208
18	23847477	A	T	18	26267513	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.60048346413611E-4	0.038
18	23847478	A	C	18	26267514	y	y	splicing	TAF4B(NM_005640:exon3:c.490-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.490-2A>C;ENST00000400466:exon3:c.490-2A>C;ENST00000578121:exon3:c.490-2A>C;ENST00000418698:exon3:c.490-2A>C)	.	.	0.99994515364607	0.894
18	23847478	A	G	18	26267514	y	y	splicing	TAF4B(NM_005640:exon3:c.490-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.490-2A>G;ENST00000400466:exon3:c.490-2A>G;ENST00000578121:exon3:c.490-2A>G;ENST00000418698:exon3:c.490-2A>G)	.	.	0.99994515364607	0.894
18	23847478	A	T	18	26267514	y	y	splicing	TAF4B(NM_005640:exon3:c.490-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.490-2A>T;ENST00000400466:exon3:c.490-2A>T;ENST00000578121:exon3:c.490-2A>T;ENST00000418698:exon3:c.490-2A>T)	.	.	0.99994515364607	0.898
18	23847479	G	A	18	26267515	y	y	splicing	TAF4B(NM_005640:exon3:c.490-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.490-1G>A;ENST00000400466:exon3:c.490-1G>A;ENST00000578121:exon3:c.490-1G>A;ENST00000418698:exon3:c.490-1G>A)	.	.	0.999983347500877	0.896
18	23847479	G	C	18	26267515	y	y	splicing	TAF4B(NM_005640:exon3:c.490-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.490-1G>C;ENST00000400466:exon3:c.490-1G>C;ENST00000578121:exon3:c.490-1G>C;ENST00000418698:exon3:c.490-1G>C)	.	.	0.999983347500877	0.894
18	23847479	G	T	18	26267515	y	y	splicing	TAF4B(NM_005640:exon3:c.490-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.490-1G>T;ENST00000400466:exon3:c.490-1G>T;ENST00000578121:exon3:c.490-1G>T;ENST00000418698:exon3:c.490-1G>T)	.	.	0.999983347500877	0.894
18	23847480	A	C	18	26267516	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A490C:p.N164H;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A490C:p.N164H;ENSG00000141384:ENST00000400466:exon3:c.A490C:p.N164H;ENSG00000141384:ENST00000418698:exon3:c.A490C:p.N164H;ENSG00000141384:ENST00000578121:exon3:c.A490C:p.N164H;	0.0277240868432106	0.214
18	23847480	A	G	18	26267516	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A490G:p.N164D;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A490G:p.N164D;ENSG00000141384:ENST00000400466:exon3:c.A490G:p.N164D;ENSG00000141384:ENST00000418698:exon3:c.A490G:p.N164D;ENSG00000141384:ENST00000578121:exon3:c.A490G:p.N164D;	0.00409911284007931	0.112
18	23847480	A	T	18	26267516	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A490T:p.N164Y;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A490T:p.N164Y;ENSG00000141384:ENST00000400466:exon3:c.A490T:p.N164Y;ENSG00000141384:ENST00000418698:exon3:c.A490T:p.N164Y;ENSG00000141384:ENST00000578121:exon3:c.A490T:p.N164Y;	0.167161150418206	0.25
18	23847481	A	C	18	26267517	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A491C:p.N164T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A491C:p.N164T;ENSG00000141384:ENST00000400466:exon3:c.A491C:p.N164T;ENSG00000141384:ENST00000418698:exon3:c.A491C:p.N164T;ENSG00000141384:ENST00000578121:exon3:c.A491C:p.N164T;	0.00342152014252868	0.248
18	23847481	A	G	18	26267517	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A491G:p.N164S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A491G:p.N164S;ENSG00000141384:ENST00000400466:exon3:c.A491G:p.N164S;ENSG00000141384:ENST00000418698:exon3:c.A491G:p.N164S;ENSG00000141384:ENST00000578121:exon3:c.A491G:p.N164S;	8.03933413003892E-4	0.096
18	23847481	A	T	18	26267517	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A491T:p.N164I;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A491T:p.N164I;ENSG00000141384:ENST00000400466:exon3:c.A491T:p.N164I;ENSG00000141384:ENST00000418698:exon3:c.A491T:p.N164I;ENSG00000141384:ENST00000578121:exon3:c.A491T:p.N164I;	0.0029429143333179	0.078
18	23847585	C	A	18	26267621	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.C595A:p.Q199K;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.C595A:p.Q199K;ENSG00000141384:ENST00000400466:exon3:c.C595A:p.Q199K;ENSG00000141384:ENST00000418698:exon3:c.C595A:p.Q199K;ENSG00000141384:ENST00000578121:exon3:c.C595A:p.Q199K;	0.868914595804018	0.594
18	23847585	C	G	18	26267621	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.C595G:p.Q199E;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.C595G:p.Q199E;ENSG00000141384:ENST00000400466:exon3:c.C595G:p.Q199E;ENSG00000141384:ENST00000418698:exon3:c.C595G:p.Q199E;ENSG00000141384:ENST00000578121:exon3:c.C595G:p.Q199E;	0.286851931726069	0.324
18	23847585	C	T	18	26267621	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon3:c.C595T:p.Q199X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon3:c.C595T:p.Q199X;ENSG00000141384:ENST00000400466:exon3:c.C595T:p.Q199X;ENSG00000141384:ENST00000418698:exon3:c.C595T:p.Q199X;ENSG00000141384:ENST00000578121:exon3:c.C595T:p.Q199X;	0.995741278126094	0.938
18	23847586	A	C	18	26267622	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A596C:p.Q199P;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A596C:p.Q199P;ENSG00000141384:ENST00000400466:exon3:c.A596C:p.Q199P;ENSG00000141384:ENST00000418698:exon3:c.A596C:p.Q199P;ENSG00000141384:ENST00000578121:exon3:c.A596C:p.Q199P;	0.200074147853635	0.5
18	23847586	A	G	18	26267622	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A596G:p.Q199R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A596G:p.Q199R;ENSG00000141384:ENST00000400466:exon3:c.A596G:p.Q199R;ENSG00000141384:ENST00000418698:exon3:c.A596G:p.Q199R;ENSG00000141384:ENST00000578121:exon3:c.A596G:p.Q199R;	0.11721502930835	0.42
18	23847586	A	T	18	26267622	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A596T:p.Q199L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A596T:p.Q199L;ENSG00000141384:ENST00000400466:exon3:c.A596T:p.Q199L;ENSG00000141384:ENST00000418698:exon3:c.A596T:p.Q199L;ENSG00000141384:ENST00000578121:exon3:c.A596T:p.Q199L;	0.430070994566358	0.57
18	23847587	A	C	18	26267623	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A597C:p.Q199H;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A597C:p.Q199H;ENSG00000141384:ENST00000400466:exon3:c.A597C:p.Q199H;ENSG00000141384:ENST00000418698:exon3:c.A597C:p.Q199H;ENSG00000141384:ENST00000578121:exon3:c.A597C:p.Q199H;	4.21267661406692E-4	0.026
18	23847587	A	G	18	26267623	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon3:c.A597G:p.Q199Q;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A597G:p.Q199Q;ENSG00000141384:ENST00000400466:exon3:c.A597G:p.Q199Q;ENSG00000141384:ENST00000418698:exon3:c.A597G:p.Q199Q;ENSG00000141384:ENST00000578121:exon3:c.A597G:p.Q199Q;	2.49075489764151E-4	0.032
18	23847587	A	T	18	26267623	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon3:c.A597T:p.Q199H;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon3:c.A597T:p.Q199H;ENSG00000141384:ENST00000400466:exon3:c.A597T:p.Q199H;ENSG00000141384:ENST00000418698:exon3:c.A597T:p.Q199H;ENSG00000141384:ENST00000578121:exon3:c.A597T:p.Q199H;	0.00248646816093043	0.106
18	23847588	G	A	18	26267624	y	y	splicing	TAF4B(NM_005640:exon3:c.597+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.597+1G>A;ENST00000400466:exon3:c.597+1G>A;ENST00000578121:exon3:c.597+1G>A;ENST00000418698:exon3:c.597+1G>A)	.	.	0.999986675681007	0.93
18	23847588	G	C	18	26267624	y	y	splicing	TAF4B(NM_005640:exon3:c.597+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.597+1G>C;ENST00000400466:exon3:c.597+1G>C;ENST00000578121:exon3:c.597+1G>C;ENST00000418698:exon3:c.597+1G>C)	.	.	0.999986675681007	0.93
18	23847588	G	T	18	26267624	y	y	splicing	TAF4B(NM_005640:exon3:c.597+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.597+1G>T;ENST00000400466:exon3:c.597+1G>T;ENST00000578121:exon3:c.597+1G>T;ENST00000418698:exon3:c.597+1G>T)	.	.	0.999986675681007	0.93
18	23847589	T	A	18	26267625	y	y	splicing	TAF4B(NM_005640:exon3:c.597+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.597+2T>A;ENST00000400466:exon3:c.597+2T>A;ENST00000578121:exon3:c.597+2T>A;ENST00000418698:exon3:c.597+2T>A)	.	.	0.999988247793601	0.926
18	23847589	T	C	18	26267625	y	y	splicing	TAF4B(NM_005640:exon3:c.597+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.597+2T>C;ENST00000400466:exon3:c.597+2T>C;ENST00000578121:exon3:c.597+2T>C;ENST00000418698:exon3:c.597+2T>C)	.	.	0.986973409415639	0.594
18	23847589	T	G	18	26267625	y	y	splicing	TAF4B(NM_005640:exon3:c.597+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon3:c.597+2T>G;ENST00000400466:exon3:c.597+2T>G;ENST00000578121:exon3:c.597+2T>G;ENST00000418698:exon3:c.597+2T>G)	.	.	0.999988247793601	0.926
18	23847590	A	C	18	26267626	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999659422402838	0.924
18	23847590	A	G	18	26267626	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0566495155091926	0.274
18	23847590	A	T	18	26267626	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.994055376514117	0.83
18	23847591	A	C	18	26267627	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.911647144408796	0.638
18	23847591	A	G	18	26267627	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.973445218954061	0.722
18	23847591	A	T	18	26267627	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.873736638860171	0.698
18	23847592	G	A	18	26267628	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.994000723840536	0.914
18	23847592	G	C	18	26267628	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.997323292192676	0.868
18	23847592	G	T	18	26267628	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.997816974375027	0.874
18	23847593	T	A	18	26267629	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.885480771450303	0.662
18	23847593	T	C	18	26267629	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.810276375117591	0.598
18	23847593	T	G	18	26267629	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.515451703497635	0.536
18	23847594	T	A	18	26267630	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.31733714878342E-5	0.0
18	23847594	T	C	18	26267630	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.31733714878342E-5	0.0
18	23847594	T	G	18	26267630	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.31733714878342E-5	0.0
18	23847595	G	A	18	26267631	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.81159136363845E-5	0.0
18	23847595	G	C	18	26267631	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.81159136363845E-5	0.0
18	23847595	G	T	18	26267631	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.81159136363845E-5	0.0
18	23854615	C	A	18	26274651	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00155278154138409	0.062
18	23854615	C	G	18	26274651	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00153019011309576	0.08
18	23854615	C	T	18	26274651	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.40158433888594E-5	0.006
18	23854616	T	A	18	26274652	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.751177932686608	0.524
18	23854616	T	C	18	26274652	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00213937045686138	0.172
18	23854616	T	G	18	26274652	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.30294789549787	0.528
18	23854617	T	A	18	26274653	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0041844782673941	0.16
18	23854617	T	C	18	26274653	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.27468131232272E-4	0.046
18	23854617	T	G	18	26274653	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.04499527027219	0.362
18	23854618	T	A	18	26274654	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00783752952762195	0.324
18	23854618	T	C	18	26274654	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.15918702168983E-4	0.072
18	23854618	T	G	18	26274654	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00814413200013819	0.384
18	23854619	A	C	18	26274655	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.6145473046765E-5	0.0
18	23854619	A	G	18	26274655	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.6355796513731E-5	0.008
18	23854619	A	T	18	26274655	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.74213353921879E-5	0.0
18	23854620	A	C	18	26274656	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.63889524197218E-5	0.0
18	23854620	A	G	18	26274656	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.988775850513949	0.986
18	23854620	A	T	18	26274656	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.95743523428708E-5	0.0
18	23854621	T	A	18	26274657	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.886394353402406	0.628
18	23854621	T	C	18	26274657	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.05561336693808E-4	0.104
18	23854621	T	G	18	26274657	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999938369623724	0.96
18	23854622	T	A	18	26274658	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.972091650915705	0.69
18	23854622	T	C	18	26274658	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0198107507558935	0.206
18	23854622	T	G	18	26274658	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.9828022100025	0.684
18	23854623	T	A	18	26274659	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00103389770395568	0.102
18	23854623	T	C	18	26274659	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00137352901196059	0.074
18	23854623	T	G	18	26274659	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00212747497533481	0.046
18	23854624	C	A	18	26274660	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.982688975012438	0.818
18	23854624	C	G	18	26274660	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998767248783405	0.716
18	23854624	C	T	18	26274660	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00149448659189971	0.12
18	23854625	A	C	18	26274661	y	y	splicing	TAF4B(NM_005640:exon4:c.598-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.598-2A>C;ENST00000400466:exon4:c.598-2A>C;ENST00000578121:exon4:c.598-2A>C;ENST00000418698:exon4:c.598-2A>C)	.	.	0.999960395825381	0.956
18	23854625	A	G	18	26274661	y	y	splicing	TAF4B(NM_005640:exon4:c.598-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.598-2A>G;ENST00000400466:exon4:c.598-2A>G;ENST00000578121:exon4:c.598-2A>G;ENST00000418698:exon4:c.598-2A>G)	.	.	0.999960395825381	0.956
18	23854625	A	T	18	26274661	y	y	splicing	TAF4B(NM_005640:exon4:c.598-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.598-2A>T;ENST00000400466:exon4:c.598-2A>T;ENST00000578121:exon4:c.598-2A>T;ENST00000418698:exon4:c.598-2A>T)	.	.	0.99993928974862	0.958
18	23854626	G	A	18	26274662	y	y	splicing	TAF4B(NM_005640:exon4:c.598-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.598-1G>A;ENST00000400466:exon4:c.598-1G>A;ENST00000578121:exon4:c.598-1G>A;ENST00000418698:exon4:c.598-1G>A)	.	.	0.999925264980459	0.952
18	23854626	G	C	18	26274662	y	y	splicing	TAF4B(NM_005640:exon4:c.598-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.598-1G>C;ENST00000400466:exon4:c.598-1G>C;ENST00000578121:exon4:c.598-1G>C;ENST00000418698:exon4:c.598-1G>C)	.	.	0.999951246566617	0.95
18	23854626	G	T	18	26274662	y	y	splicing	TAF4B(NM_005640:exon4:c.598-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.598-1G>T;ENST00000400466:exon4:c.598-1G>T;ENST00000578121:exon4:c.598-1G>T;ENST00000418698:exon4:c.598-1G>T)	.	.	0.999925264980459	0.952
18	23854627	T	A	18	26274663	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.T598A:p.S200T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.T598A:p.S200T;ENSG00000141384:ENST00000400466:exon4:c.T598A:p.S200T;ENSG00000141384:ENST00000418698:exon4:c.T598A:p.S200T;ENSG00000141384:ENST00000578121:exon4:c.T598A:p.S200T;	4.50899349360264E-5	0.012
18	23854627	T	C	18	26274663	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.T598C:p.S200P;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.T598C:p.S200P;ENSG00000141384:ENST00000400466:exon4:c.T598C:p.S200P;ENSG00000141384:ENST00000418698:exon4:c.T598C:p.S200P;ENSG00000141384:ENST00000578121:exon4:c.T598C:p.S200P;	3.20351739199465E-4	0.134
18	23854627	T	G	18	26274663	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.T598G:p.S200A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.T598G:p.S200A;ENSG00000141384:ENST00000400466:exon4:c.T598G:p.S200A;ENSG00000141384:ENST00000418698:exon4:c.T598G:p.S200A;ENSG00000141384:ENST00000578121:exon4:c.T598G:p.S200A;	1.82910354843066E-4	0.194
18	23854628	C	A	18	26274664	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C599A:p.S200Y;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C599A:p.S200Y;ENSG00000141384:ENST00000400466:exon4:c.C599A:p.S200Y;ENSG00000141384:ENST00000418698:exon4:c.C599A:p.S200Y;ENSG00000141384:ENST00000578121:exon4:c.C599A:p.S200Y;	0.00388715528716698	0.04
18	23854628	C	G	18	26274664	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C599G:p.S200C;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C599G:p.S200C;ENSG00000141384:ENST00000400466:exon4:c.C599G:p.S200C;ENSG00000141384:ENST00000418698:exon4:c.C599G:p.S200C;ENSG00000141384:ENST00000578121:exon4:c.C599G:p.S200C;	0.00166141707944289	0.052
18	23854628	C	T	18	26274664	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C599T:p.S200F;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C599T:p.S200F;ENSG00000141384:ENST00000400466:exon4:c.C599T:p.S200F;ENSG00000141384:ENST00000418698:exon4:c.C599T:p.S200F;ENSG00000141384:ENST00000578121:exon4:c.C599T:p.S200F;	0.00246515121408473	0.06
18	23854786	C	A	18	26274822	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C757A:p.P253T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C757A:p.P253T;ENSG00000141384:ENST00000400466:exon4:c.C757A:p.P253T;ENSG00000141384:ENST00000418698:exon4:c.C757A:p.P253T;ENSG00000141384:ENST00000578121:exon4:c.C757A:p.P253T;	0.00519995811461864	0.118
18	23854786	C	G	18	26274822	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C757G:p.P253A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C757G:p.P253A;ENSG00000141384:ENST00000400466:exon4:c.C757G:p.P253A;ENSG00000141384:ENST00000418698:exon4:c.C757G:p.P253A;ENSG00000141384:ENST00000578121:exon4:c.C757G:p.P253A;	0.00396490485130302	0.12
18	23854786	C	T	18	26274822	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C757T:p.P253S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C757T:p.P253S;ENSG00000141384:ENST00000400466:exon4:c.C757T:p.P253S;ENSG00000141384:ENST00000418698:exon4:c.C757T:p.P253S;ENSG00000141384:ENST00000578121:exon4:c.C757T:p.P253S;	0.0477578544252552	0.34
18	23854787	C	A	18	26274823	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C758A:p.P253Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C758A:p.P253Q;ENSG00000141384:ENST00000400466:exon4:c.C758A:p.P253Q;ENSG00000141384:ENST00000418698:exon4:c.C758A:p.P253Q;ENSG00000141384:ENST00000578121:exon4:c.C758A:p.P253Q;	0.001488800975617	0.09
18	23854787	C	G	18	26274823	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C758G:p.P253R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C758G:p.P253R;ENSG00000141384:ENST00000400466:exon4:c.C758G:p.P253R;ENSG00000141384:ENST00000418698:exon4:c.C758G:p.P253R;ENSG00000141384:ENST00000578121:exon4:c.C758G:p.P253R;	0.00414667569650427	0.084
18	23854787	C	T	18	26274823	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon4:c.C758T:p.P253L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.C758T:p.P253L;ENSG00000141384:ENST00000400466:exon4:c.C758T:p.P253L;ENSG00000141384:ENST00000418698:exon4:c.C758T:p.P253L;ENSG00000141384:ENST00000578121:exon4:c.C758T:p.P253L;	0.0109549631804429	0.076
18	23854788	G	A	18	26274824	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon4:c.G759A:p.P253P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.G759A:p.P253P;ENSG00000141384:ENST00000400466:exon4:c.G759A:p.P253P;ENSG00000141384:ENST00000418698:exon4:c.G759A:p.P253P;ENSG00000141384:ENST00000578121:exon4:c.G759A:p.P253P;	0.63536919900832	0.73
18	23854788	G	C	18	26274824	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon4:c.G759C:p.P253P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.G759C:p.P253P;ENSG00000141384:ENST00000400466:exon4:c.G759C:p.P253P;ENSG00000141384:ENST00000418698:exon4:c.G759C:p.P253P;ENSG00000141384:ENST00000578121:exon4:c.G759C:p.P253P;	0.939059934700761	0.744
18	23854788	G	T	18	26274824	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon4:c.G759T:p.P253P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon4:c.G759T:p.P253P;ENSG00000141384:ENST00000400466:exon4:c.G759T:p.P253P;ENSG00000141384:ENST00000418698:exon4:c.G759T:p.P253P;ENSG00000141384:ENST00000578121:exon4:c.G759T:p.P253P;	0.884047832276029	0.768
18	23854789	G	A	18	26274825	y	y	splicing	TAF4B(NM_005640:exon4:c.759+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.759+1G>A;ENST00000400466:exon4:c.759+1G>A;ENST00000578121:exon4:c.759+1G>A;ENST00000418698:exon4:c.759+1G>A)	.	.	0.999974090184857	0.938
18	23854789	G	C	18	26274825	y	y	splicing	TAF4B(NM_005640:exon4:c.759+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.759+1G>C;ENST00000400466:exon4:c.759+1G>C;ENST00000578121:exon4:c.759+1G>C;ENST00000418698:exon4:c.759+1G>C)	.	.	0.999974090184857	0.932
18	23854789	G	T	18	26274825	y	y	splicing	TAF4B(NM_005640:exon4:c.759+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.759+1G>T;ENST00000400466:exon4:c.759+1G>T;ENST00000578121:exon4:c.759+1G>T;ENST00000418698:exon4:c.759+1G>T)	.	.	0.999974090184857	0.938
18	23854790	T	A	18	26274826	y	y	splicing	TAF4B(NM_005640:exon4:c.759+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.759+2T>A;ENST00000400466:exon4:c.759+2T>A;ENST00000578121:exon4:c.759+2T>A;ENST00000418698:exon4:c.759+2T>A)	.	.	0.999978952611685	0.928
18	23854790	T	C	18	26274826	y	y	splicing	TAF4B(NM_005640:exon4:c.759+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.759+2T>C;ENST00000400466:exon4:c.759+2T>C;ENST00000578121:exon4:c.759+2T>C;ENST00000418698:exon4:c.759+2T>C)	.	.	0.999509628187786	0.886
18	23854790	T	G	18	26274826	y	y	splicing	TAF4B(NM_005640:exon4:c.759+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon4:c.759+2T>G;ENST00000400466:exon4:c.759+2T>G;ENST00000578121:exon4:c.759+2T>G;ENST00000418698:exon4:c.759+2T>G)	.	.	0.99994568797423	0.926
18	23854791	A	C	18	26274827	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.994784095582834	0.734
18	23854791	A	G	18	26274827	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.30017140674087E-4	0.086
18	23854791	A	T	18	26274827	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.99912472958467	0.744
18	23854792	A	C	18	26274828	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.170599769652081	0.502
18	23854792	A	G	18	26274828	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.525579327311811	0.44
18	23854792	A	T	18	26274828	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.543262690301391	0.566
18	23854793	G	A	18	26274829	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.9951106484112	0.69
18	23854793	G	C	18	26274829	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998745141654236	0.808
18	23854793	G	T	18	26274829	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.992098822760568	0.76
18	23854794	C	A	18	26274830	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.38208323690322E-4	0.006
18	23854794	C	G	18	26274830	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.65951856724081E-4	0.018
18	23854794	C	T	18	26274830	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.89076761846508E-5	0.0
18	23854795	T	A	18	26274831	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.80257671126134E-4	0.004
18	23854795	T	C	18	26274831	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00186261069892511	0.004
18	23854795	T	G	18	26274831	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.77282158008052E-4	0.002
18	23854796	C	A	18	26274832	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.23670744562471E-4	0.014
18	23854796	C	G	18	26274832	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.73547915266621E-4	0.008
18	23854796	C	T	18	26274832	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.23670744562471E-4	0.006
18	23854883	T	A	18	26274919	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00805085067540041	0.212
18	23854883	T	C	18	26274919	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.56591666426666E-4	0.022
18	23854883	T	G	18	26274919	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00805085067540041	0.176
18	23854884	T	A	18	26274920	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.970416229508432	0.712
18	23854884	T	C	18	26274920	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0302031285374025	0.356
18	23854884	T	G	18	26274920	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.386765972305424	0.516
18	23854885	T	A	18	26274921	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0425213196235502	0.308
18	23854885	T	C	18	26274921	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0019277987201831	0.048
18	23854885	T	G	18	26274921	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0627927743674866	0.276
18	23854886	C	A	18	26274922	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.0113367024619E-4	0.05
18	23854886	C	G	18	26274922	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00397784257311956	0.084
18	23854886	C	T	18	26274922	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.24216981365556E-5	0.002
18	23854887	A	C	18	26274923	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.81216475309008E-5	0.0
18	23854887	A	G	18	26274923	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.41466459946109E-5	0.002
18	23854887	A	T	18	26274923	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.95048459408849E-5	0.004
18	23854888	T	A	18	26274924	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.236741555621836	0.35
18	23854888	T	C	18	26274924	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00439783950935839	0.08
18	23854888	T	G	18	26274924	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999960848178233	0.976
18	23854889	A	C	18	26274925	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.65909088525319E-5	0.02
18	23854889	A	G	18	26274925	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.28764615196577E-4	0.016
18	23854889	A	T	18	26274925	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.95280845674858E-5	0.016
18	23854890	T	A	18	26274926	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.412993541449301	0.552
18	23854890	T	C	18	26274926	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00167110317854269	0.066
18	23854890	T	G	18	26274926	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999935881471887	0.952
18	23854891	T	A	18	26274927	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.51744082857286E-4	0.006
18	23854891	T	C	18	26274927	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.31846278320074E-4	0.24
18	23854891	T	G	18	26274927	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00150493775686885	0.298
18	23854892	T	A	18	26274928	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.385078099728583	0.566
18	23854892	T	C	18	26274928	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.09995910735478E-4	0.078
18	23854892	T	G	18	26274928	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.997690938198941	0.782
18	23854893	A	C	18	26274929	y	y	splicing	TAF4B(NM_005640:exon5:c.760-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.760-2A>C;ENST00000400466:exon5:c.760-2A>C;ENST00000578121:exon5:c.760-2A>C;ENST00000418698:exon5:c.760-2A>C)	.	.	0.999986741007567	0.944
18	23854893	A	G	18	26274929	y	y	splicing	TAF4B(NM_005640:exon5:c.760-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.760-2A>G;ENST00000400466:exon5:c.760-2A>G;ENST00000578121:exon5:c.760-2A>G;ENST00000418698:exon5:c.760-2A>G)	.	.	0.999986741007567	0.944
18	23854893	A	T	18	26274929	y	y	splicing	TAF4B(NM_005640:exon5:c.760-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.760-2A>T;ENST00000400466:exon5:c.760-2A>T;ENST00000578121:exon5:c.760-2A>T;ENST00000418698:exon5:c.760-2A>T)	.	.	0.999986741007567	0.944
18	23854894	G	A	18	26274930	y	y	splicing	TAF4B(NM_005640:exon5:c.760-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.760-1G>A;ENST00000400466:exon5:c.760-1G>A;ENST00000578121:exon5:c.760-1G>A;ENST00000418698:exon5:c.760-1G>A)	.	.	0.999983677848485	0.944
18	23854894	G	C	18	26274930	y	y	splicing	TAF4B(NM_005640:exon5:c.760-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.760-1G>C;ENST00000400466:exon5:c.760-1G>C;ENST00000578121:exon5:c.760-1G>C;ENST00000418698:exon5:c.760-1G>C)	.	.	0.999983677848485	0.944
18	23854894	G	T	18	26274930	y	y	splicing	TAF4B(NM_005640:exon5:c.760-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.760-1G>T;ENST00000400466:exon5:c.760-1G>T;ENST00000578121:exon5:c.760-1G>T;ENST00000418698:exon5:c.760-1G>T)	.	.	0.999983677848485	0.944
18	23854895	A	C	18	26274931	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.A760C:p.T254P;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.A760C:p.T254P;ENSG00000141384:ENST00000400466:exon5:c.A760C:p.T254P;ENSG00000141384:ENST00000418698:exon5:c.A760C:p.T254P;ENSG00000141384:ENST00000578121:exon5:c.A760C:p.T254P;	9.44648875591528E-5	0.16
18	23854895	A	G	18	26274931	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.A760G:p.T254A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.A760G:p.T254A;ENSG00000141384:ENST00000400466:exon5:c.A760G:p.T254A;ENSG00000141384:ENST00000418698:exon5:c.A760G:p.T254A;ENSG00000141384:ENST00000578121:exon5:c.A760G:p.T254A;	1.8697991107117E-5	0.072
18	23854895	A	T	18	26274931	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.A760T:p.T254S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.A760T:p.T254S;ENSG00000141384:ENST00000400466:exon5:c.A760T:p.T254S;ENSG00000141384:ENST00000418698:exon5:c.A760T:p.T254S;ENSG00000141384:ENST00000578121:exon5:c.A760T:p.T254S;	1.06364017698729E-4	0.14
18	23854896	C	A	18	26274932	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.C761A:p.T254K;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.C761A:p.T254K;ENSG00000141384:ENST00000400466:exon5:c.C761A:p.T254K;ENSG00000141384:ENST00000418698:exon5:c.C761A:p.T254K;ENSG00000141384:ENST00000578121:exon5:c.C761A:p.T254K;	0.00409966555571	0.096
18	23854896	C	G	18	26274932	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.C761G:p.T254R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.C761G:p.T254R;ENSG00000141384:ENST00000400466:exon5:c.C761G:p.T254R;ENSG00000141384:ENST00000418698:exon5:c.C761G:p.T254R;ENSG00000141384:ENST00000578121:exon5:c.C761G:p.T254R;	9.98114535876092E-4	0.03
18	23854896	C	T	18	26274932	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.C761T:p.T254I;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.C761T:p.T254I;ENSG00000141384:ENST00000400466:exon5:c.C761T:p.T254I;ENSG00000141384:ENST00000418698:exon5:c.C761T:p.T254I;ENSG00000141384:ENST00000578121:exon5:c.C761T:p.T254I;	0.00389688053709836	0.088
18	23855015	T	A	18	26275051	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.T880A:p.L294M;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.T880A:p.L294M;ENSG00000141384:ENST00000400466:exon5:c.T880A:p.L294M;ENSG00000141384:ENST00000418698:exon5:c.T880A:p.L294M;ENSG00000141384:ENST00000578121:exon5:c.T880A:p.L294M;	9.39283935230364E-5	0.004
18	23855015	T	C	18	26275051	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon5:c.T880C:p.L294L;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.T880C:p.L294L;ENSG00000141384:ENST00000400466:exon5:c.T880C:p.L294L;ENSG00000141384:ENST00000418698:exon5:c.T880C:p.L294L;ENSG00000141384:ENST00000578121:exon5:c.T880C:p.L294L;	9.70298443244367E-5	0.0
18	23855015	T	G	18	26275051	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.T880G:p.L294V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.T880G:p.L294V;ENSG00000141384:ENST00000400466:exon5:c.T880G:p.L294V;ENSG00000141384:ENST00000418698:exon5:c.T880G:p.L294V;ENSG00000141384:ENST00000578121:exon5:c.T880G:p.L294V;	2.49803337626506E-4	0.034
18	23855016	T	A	18	26275052	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon5:c.T881A:p.L294X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon5:c.T881A:p.L294X;ENSG00000141384:ENST00000400466:exon5:c.T881A:p.L294X;ENSG00000141384:ENST00000418698:exon5:c.T881A:p.L294X;ENSG00000141384:ENST00000578121:exon5:c.T881A:p.L294X;	0.681577329183365	0.69
18	23855016	T	C	18	26275052	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.T881C:p.L294S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.T881C:p.L294S;ENSG00000141384:ENST00000400466:exon5:c.T881C:p.L294S;ENSG00000141384:ENST00000418698:exon5:c.T881C:p.L294S;ENSG00000141384:ENST00000578121:exon5:c.T881C:p.L294S;	0.0827662847361394	0.264
18	23855016	T	G	18	26275052	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.T881G:p.L294W;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.T881G:p.L294W;ENSG00000141384:ENST00000400466:exon5:c.T881G:p.L294W;ENSG00000141384:ENST00000418698:exon5:c.T881G:p.L294W;ENSG00000141384:ENST00000578121:exon5:c.T881G:p.L294W;	0.277646449769522	0.392
18	23855017	G	A	18	26275053	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon5:c.G882A:p.L294L;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.G882A:p.L294L;ENSG00000141384:ENST00000400466:exon5:c.G882A:p.L294L;ENSG00000141384:ENST00000418698:exon5:c.G882A:p.L294L;ENSG00000141384:ENST00000578121:exon5:c.G882A:p.L294L;	0.995685687125894	0.906
18	23855017	G	C	18	26275053	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.G882C:p.L294F;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.G882C:p.L294F;ENSG00000141384:ENST00000400466:exon5:c.G882C:p.L294F;ENSG00000141384:ENST00000418698:exon5:c.G882C:p.L294F;ENSG00000141384:ENST00000578121:exon5:c.G882C:p.L294F;	0.998999361740039	0.848
18	23855017	G	T	18	26275053	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon5:c.G882T:p.L294F;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon5:c.G882T:p.L294F;ENSG00000141384:ENST00000400466:exon5:c.G882T:p.L294F;ENSG00000141384:ENST00000418698:exon5:c.G882T:p.L294F;ENSG00000141384:ENST00000578121:exon5:c.G882T:p.L294F;	0.98806994581852	0.79
18	23855018	G	A	18	26275054	y	y	splicing	TAF4B(NM_005640:exon5:c.882+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.882+1G>A;ENST00000400466:exon5:c.882+1G>A;ENST00000578121:exon5:c.882+1G>A;ENST00000418698:exon5:c.882+1G>A)	.	.	0.999981760802075	0.938
18	23855018	G	C	18	26275054	y	y	splicing	TAF4B(NM_005640:exon5:c.882+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.882+1G>C;ENST00000400466:exon5:c.882+1G>C;ENST00000578121:exon5:c.882+1G>C;ENST00000418698:exon5:c.882+1G>C)	.	.	0.999981760802075	0.938
18	23855018	G	T	18	26275054	y	y	splicing	TAF4B(NM_005640:exon5:c.882+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.882+1G>T;ENST00000400466:exon5:c.882+1G>T;ENST00000578121:exon5:c.882+1G>T;ENST00000418698:exon5:c.882+1G>T)	.	.	0.999981760802075	0.938
18	23855019	T	A	18	26275055	y	y	splicing	TAF4B(NM_005640:exon5:c.882+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.882+2T>A;ENST00000400466:exon5:c.882+2T>A;ENST00000578121:exon5:c.882+2T>A;ENST00000418698:exon5:c.882+2T>A)	.	.	0.999989917668626	0.928
18	23855019	T	C	18	26275055	y	y	splicing	TAF4B(NM_005640:exon5:c.882+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.882+2T>C;ENST00000400466:exon5:c.882+2T>C;ENST00000578121:exon5:c.882+2T>C;ENST00000418698:exon5:c.882+2T>C)	.	.	0.993179459523591	0.626
18	23855019	T	G	18	26275055	y	y	splicing	TAF4B(NM_005640:exon5:c.882+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon5:c.882+2T>G;ENST00000400466:exon5:c.882+2T>G;ENST00000578121:exon5:c.882+2T>G;ENST00000418698:exon5:c.882+2T>G)	.	.	0.999989917668626	0.928
18	23855020	A	C	18	26275056	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.958575166796239	0.632
18	23855020	A	G	18	26275056	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00186336987302314	0.05
18	23855020	A	T	18	26275056	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.935044694246466	0.606
18	23855021	A	C	18	26275057	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.789958057161269	0.604
18	23855021	A	G	18	26275057	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.925123617086778	0.694
18	23855021	A	T	18	26275057	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.974119967301108	0.708
18	23855022	G	A	18	26275058	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.996185225593771	0.898
18	23855022	G	C	18	26275058	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.992503640548413	0.876
18	23855022	G	T	18	26275058	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998880967863939	0.904
18	23855023	T	A	18	26275059	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0599685289684497	0.428
18	23855023	T	C	18	26275059	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.130687655590501	0.508
18	23855023	T	G	18	26275059	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0204610264631395	0.358
18	23855024	A	C	18	26275060	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.81474896170976E-5	0.0
18	23855024	A	G	18	26275060	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.87544548170259E-5	0.0
18	23855024	A	T	18	26275060	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.18168700964336E-5	0.0
18	23855025	G	A	18	26275061	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.02607838338485E-5	0.0
18	23855025	G	C	18	26275061	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.31167639631408E-5	0.002
18	23855025	G	T	18	26275061	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.31167639631408E-5	0.0
18	23861923	C	A	18	26281959	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.99074035500655E-4	0.05
18	23861923	C	G	18	26281959	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.66054735538843E-4	0.032
18	23861923	C	T	18	26281959	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.04499888154402E-5	0.004
18	23861924	C	A	18	26281960	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.03047986825703E-4	0.02
18	23861924	C	G	18	26281960	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.56236174066892E-4	0.0
18	23861924	C	T	18	26281960	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.34284278289794E-5	0.0
18	23861925	C	A	18	26281961	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00464720398810491	0.18
18	23861925	C	G	18	26281961	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.9497321710809E-4	0.028
18	23861925	C	T	18	26281961	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.02085807807573E-5	0.0
18	23861926	A	C	18	26281962	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.85466406270999E-5	0.004
18	23861926	A	G	18	26281962	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.4413349573227E-5	0.004
18	23861926	A	T	18	26281962	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.05309433220355E-4	0.01
18	23861927	T	A	18	26281963	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0026307829017853	0.06
18	23861927	T	C	18	26281963	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.89751134786164E-4	0.028
18	23861927	T	G	18	26281963	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999753059051216	0.988
18	23861928	C	A	18	26281964	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00101654614933678	0.102
18	23861928	C	G	18	26281964	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00101654614933678	0.076
18	23861928	C	T	18	26281964	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.77314938567377E-5	0.014
18	23861929	C	A	18	26281965	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00230358854197604	0.072
18	23861929	C	G	18	26281965	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00202494323390708	0.084
18	23861929	C	T	18	26281965	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.60512154243887E-5	0.004
18	23861930	C	A	18	26281966	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0174590607098916	0.14
18	23861930	C	G	18	26281966	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0982449059804797	0.156
18	23861930	C	T	18	26281966	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.29754501985916E-4	0.0
18	23861931	T	A	18	26281967	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0116538965199203	0.044
18	23861931	T	C	18	26281967	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00372252535914027	0.014
18	23861931	T	G	18	26281967	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0125026428140307	0.028
18	23861932	C	A	18	26281968	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.54660481602843	0.536
18	23861932	C	G	18	26281968	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999515392336015	0.882
18	23861932	C	T	18	26281968	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00123349356685041	0.104
18	23861933	A	C	18	26281969	y	y	splicing	TAF4B(NM_005640:exon6:c.883-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.883-2A>C;ENST00000400466:exon6:c.883-2A>C;ENST00000578121:exon6:c.883-2A>C;ENST00000418698:exon6:c.883-2A>C)	.	.	0.999992446697775	0.926
18	23861933	A	G	18	26281969	y	y	splicing	TAF4B(NM_005640:exon6:c.883-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.883-2A>G;ENST00000400466:exon6:c.883-2A>G;ENST00000578121:exon6:c.883-2A>G;ENST00000418698:exon6:c.883-2A>G)	.	.	0.999992446697775	0.926
18	23861933	A	T	18	26281969	y	y	splicing	TAF4B(NM_005640:exon6:c.883-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.883-2A>T;ENST00000400466:exon6:c.883-2A>T;ENST00000578121:exon6:c.883-2A>T;ENST00000418698:exon6:c.883-2A>T)	.	.	0.999992446697775	0.914
18	23861934	G	A	18	26281970	y	y	splicing	TAF4B(NM_005640:exon6:c.883-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.883-1G>A;ENST00000400466:exon6:c.883-1G>A;ENST00000578121:exon6:c.883-1G>A;ENST00000418698:exon6:c.883-1G>A)	.	.	0.999988247793601	0.92
18	23861934	G	C	18	26281970	y	y	splicing	TAF4B(NM_005640:exon6:c.883-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.883-1G>C;ENST00000400466:exon6:c.883-1G>C;ENST00000578121:exon6:c.883-1G>C;ENST00000418698:exon6:c.883-1G>C)	.	.	0.999988247793601	0.92
18	23861934	G	T	18	26281970	y	y	splicing	TAF4B(NM_005640:exon6:c.883-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.883-1G>T;ENST00000400466:exon6:c.883-1G>T;ENST00000578121:exon6:c.883-1G>T;ENST00000418698:exon6:c.883-1G>T)	.	.	0.999988247793601	0.92
18	23861935	G	A	18	26281971	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.G883A:p.D295N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.G883A:p.D295N;ENSG00000141384:ENST00000400466:exon6:c.G883A:p.D295N;ENSG00000141384:ENST00000418698:exon6:c.G883A:p.D295N;ENSG00000141384:ENST00000578121:exon6:c.G883A:p.D295N;	0.991495069568634	0.758
18	23861935	G	C	18	26281971	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.G883C:p.D295H;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.G883C:p.D295H;ENSG00000141384:ENST00000400466:exon6:c.G883C:p.D295H;ENSG00000141384:ENST00000418698:exon6:c.G883C:p.D295H;ENSG00000141384:ENST00000578121:exon6:c.G883C:p.D295H;	0.984555884694912	0.902
18	23861935	G	T	18	26281971	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.G883T:p.D295Y;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.G883T:p.D295Y;ENSG00000141384:ENST00000400466:exon6:c.G883T:p.D295Y;ENSG00000141384:ENST00000418698:exon6:c.G883T:p.D295Y;ENSG00000141384:ENST00000578121:exon6:c.G883T:p.D295Y;	0.952654585388001	0.846
18	23861936	A	C	18	26281972	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.A884C:p.D295A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.A884C:p.D295A;ENSG00000141384:ENST00000400466:exon6:c.A884C:p.D295A;ENSG00000141384:ENST00000418698:exon6:c.A884C:p.D295A;ENSG00000141384:ENST00000578121:exon6:c.A884C:p.D295A;	0.0268293433657777	0.114
18	23861936	A	G	18	26281972	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.A884G:p.D295G;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.A884G:p.D295G;ENSG00000141384:ENST00000400466:exon6:c.A884G:p.D295G;ENSG00000141384:ENST00000418698:exon6:c.A884G:p.D295G;ENSG00000141384:ENST00000578121:exon6:c.A884G:p.D295G;	0.00906721595083616	0.018
18	23861936	A	T	18	26281972	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.A884T:p.D295V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.A884T:p.D295V;ENSG00000141384:ENST00000400466:exon6:c.A884T:p.D295V;ENSG00000141384:ENST00000418698:exon6:c.A884T:p.D295V;ENSG00000141384:ENST00000578121:exon6:c.A884T:p.D295V;	0.00606917921409372	0.034
18	23862022	A	C	18	26282058	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.A970C:p.K324Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.A970C:p.K324Q;ENSG00000141384:ENST00000400466:exon6:c.A970C:p.K324Q;ENSG00000141384:ENST00000418698:exon6:c.A970C:p.K324Q;ENSG00000141384:ENST00000578121:exon6:c.A970C:p.K324Q;	0.00151140312269972	0.01
18	23862022	A	G	18	26282058	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.A970G:p.K324E;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.A970G:p.K324E;ENSG00000141384:ENST00000400466:exon6:c.A970G:p.K324E;ENSG00000141384:ENST00000418698:exon6:c.A970G:p.K324E;ENSG00000141384:ENST00000578121:exon6:c.A970G:p.K324E;	0.0613843969008759	0.174
18	23862022	A	T	18	26282058	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon6:c.A970T:p.K324X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon6:c.A970T:p.K324X;ENSG00000141384:ENST00000400466:exon6:c.A970T:p.K324X;ENSG00000141384:ENST00000418698:exon6:c.A970T:p.K324X;ENSG00000141384:ENST00000578121:exon6:c.A970T:p.K324X;	0.980703050968177	0.814
18	23862023	A	C	18	26282059	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.A971C:p.K324T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.A971C:p.K324T;ENSG00000141384:ENST00000400466:exon6:c.A971C:p.K324T;ENSG00000141384:ENST00000418698:exon6:c.A971C:p.K324T;ENSG00000141384:ENST00000578121:exon6:c.A971C:p.K324T;	0.999765882423277	0.988
18	23862023	A	G	18	26282059	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.A971G:p.K324R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.A971G:p.K324R;ENSG00000141384:ENST00000400466:exon6:c.A971G:p.K324R;ENSG00000141384:ENST00000418698:exon6:c.A971G:p.K324R;ENSG00000141384:ENST00000578121:exon6:c.A971G:p.K324R;	0.999878758426579	0.998
18	23862023	A	T	18	26282059	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.A971T:p.K324M;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.A971T:p.K324M;ENSG00000141384:ENST00000400466:exon6:c.A971T:p.K324M;ENSG00000141384:ENST00000418698:exon6:c.A971T:p.K324M;ENSG00000141384:ENST00000578121:exon6:c.A971T:p.K324M;	0.999855799668896	0.994
18	23862024	G	A	18	26282060	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon6:c.G972A:p.K324K;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.G972A:p.K324K;ENSG00000141384:ENST00000400466:exon6:c.G972A:p.K324K;ENSG00000141384:ENST00000418698:exon6:c.G972A:p.K324K;ENSG00000141384:ENST00000578121:exon6:c.G972A:p.K324K;	0.99998136811379	0.998
18	23862024	G	C	18	26282060	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.G972C:p.K324N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.G972C:p.K324N;ENSG00000141384:ENST00000400466:exon6:c.G972C:p.K324N;ENSG00000141384:ENST00000418698:exon6:c.G972C:p.K324N;ENSG00000141384:ENST00000578121:exon6:c.G972C:p.K324N;	0.99999454814848	0.996
18	23862024	G	T	18	26282060	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon6:c.G972T:p.K324N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon6:c.G972T:p.K324N;ENSG00000141384:ENST00000400466:exon6:c.G972T:p.K324N;ENSG00000141384:ENST00000418698:exon6:c.G972T:p.K324N;ENSG00000141384:ENST00000578121:exon6:c.G972T:p.K324N;	0.999982951670469	0.996
18	23862025	G	A	18	26282061	y	y	splicing	TAF4B(NM_005640:exon6:c.972+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.972+1G>A;ENST00000400466:exon6:c.972+1G>A;ENST00000578121:exon6:c.972+1G>A;ENST00000418698:exon6:c.972+1G>A)	.	.	0.999990764389106	0.918
18	23862025	G	C	18	26282061	y	y	splicing	TAF4B(NM_005640:exon6:c.972+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.972+1G>C;ENST00000400466:exon6:c.972+1G>C;ENST00000578121:exon6:c.972+1G>C;ENST00000418698:exon6:c.972+1G>C)	.	.	0.999990764389106	0.918
18	23862025	G	T	18	26282061	y	y	splicing	TAF4B(NM_005640:exon6:c.972+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.972+1G>T;ENST00000400466:exon6:c.972+1G>T;ENST00000578121:exon6:c.972+1G>T;ENST00000418698:exon6:c.972+1G>T)	.	.	0.999990764389106	0.918
18	23862026	T	A	18	26282062	y	y	splicing	TAF4B(NM_005640:exon6:c.972+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.972+2T>A;ENST00000400466:exon6:c.972+2T>A;ENST00000578121:exon6:c.972+2T>A;ENST00000418698:exon6:c.972+2T>A)	.	.	0.999994064153128	0.936
18	23862026	T	C	18	26282062	y	y	splicing	TAF4B(NM_005640:exon6:c.972+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.972+2T>C;ENST00000400466:exon6:c.972+2T>C;ENST00000578121:exon6:c.972+2T>C;ENST00000418698:exon6:c.972+2T>C)	.	.	0.995128238634908	0.608
18	23862026	T	G	18	26282062	y	y	splicing	TAF4B(NM_005640:exon6:c.972+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon6:c.972+2T>G;ENST00000400466:exon6:c.972+2T>G;ENST00000578121:exon6:c.972+2T>G;ENST00000418698:exon6:c.972+2T>G)	.	.	0.999994064153128	0.936
18	23862027	A	C	18	26282063	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999966937112235	0.972
18	23862027	A	G	18	26282063	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999341180398698	0.906
18	23862027	A	T	18	26282063	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999943187935477	0.966
18	23862028	G	A	18	26282064	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.23123061935637E-4	0.06
18	23862028	G	C	18	26282064	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.40488255356699E-4	0.096
18	23862028	G	T	18	26282064	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.10899431319149E-5	0.022
18	23862029	A	C	18	26282065	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.23628666357041E-4	0.034
18	23862029	A	G	18	26282065	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00310396403013054	0.09
18	23862029	A	T	18	26282065	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.13954138326853E-4	0.03
18	23862030	G	A	18	26282066	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.01196391801063E-4	0.032
18	23862030	G	C	18	26282066	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.90493633707695E-5	0.074
18	23862030	G	T	18	26282066	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.98306650121488E-5	0.016
18	23862031	T	A	18	26282067	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.816616266597E-4	0.012
18	23862031	T	C	18	26282067	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.51451602468124E-4	0.004
18	23862031	T	G	18	26282067	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.49359523282985E-4	0.016
18	23862032	T	A	18	26282068	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00152911479377486	0.014
18	23862032	T	C	18	26282068	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00115909127694679	0.018
18	23862032	T	G	18	26282068	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00103180764997921	0.012
18	23865834	C	A	18	26285870	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.15807662641846E-5	0.014
18	23865834	C	G	18	26285870	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.6013528655353E-5	0.048
18	23865834	C	T	18	26285870	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.6858594992653E-5	0.0
18	23865835	T	A	18	26285871	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999887136025492	0.922
18	23865835	T	C	18	26285871	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00249469748808378	0.156
18	23865835	T	G	18	26285871	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.347122765737539	0.368
18	23865836	G	A	18	26285872	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.46348200035227E-5	0.022
18	23865836	G	C	18	26285872	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.61682868101878E-6	0.006
18	23865836	G	T	18	26285872	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.27219349862041E-5	0.006
18	23865837	C	A	18	26285873	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.42520319261905E-4	0.02
18	23865837	C	G	18	26285873	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.08962176861911E-4	0.028
18	23865837	C	T	18	26285873	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.04737572979891E-5	0.0
18	23865838	A	C	18	26285874	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.89876951757761E-5	0.008
18	23865838	A	G	18	26285874	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.86731339095991E-5	0.004
18	23865838	A	T	18	26285874	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.67944982512943E-5	0.002
18	23865839	T	A	18	26285875	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.652695023714915	0.448
18	23865839	T	C	18	26285875	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.02614853408277E-4	0.058
18	23865839	T	G	18	26285875	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999845919202785	0.984
18	23865840	T	A	18	26285876	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.144213804858282	0.398
18	23865840	T	C	18	26285876	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00113265587203906	0.084
18	23865840	T	G	18	26285876	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.394515888050208	0.466
18	23865841	T	A	18	26285877	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.651884947239808	0.414
18	23865841	T	C	18	26285877	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0239500955695296	0.168
18	23865841	T	G	18	26285877	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.916280802811427	0.482
18	23865842	C	A	18	26285878	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00106736905640454	0.048
18	23865842	C	G	18	26285878	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0090637564423183	0.15
18	23865842	C	T	18	26285878	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00106736905640454	0.052
18	23865843	C	A	18	26285879	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.851372777330768	0.538
18	23865843	C	G	18	26285879	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999442462362611	0.866
18	23865843	C	T	18	26285879	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.96391021076637E-4	0.082
18	23865844	A	C	18	26285880	y	y	splicing	TAF4B(NM_005640:exon7:c.973-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.973-2A>C;ENST00000400466:exon7:c.973-2A>C;ENST00000578121:exon7:c.973-2A>C;ENST00000418698:exon7:c.973-2A>C)	.	.	0.999939020951004	0.93
18	23865844	A	G	18	26285880	y	y	splicing	TAF4B(NM_005640:exon7:c.973-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.973-2A>G;ENST00000400466:exon7:c.973-2A>G;ENST00000578121:exon7:c.973-2A>G;ENST00000418698:exon7:c.973-2A>G)	.	.	0.999939020951004	0.932
18	23865844	A	T	18	26285880	y	y	splicing	TAF4B(NM_005640:exon7:c.973-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.973-2A>T;ENST00000400466:exon7:c.973-2A>T;ENST00000578121:exon7:c.973-2A>T;ENST00000418698:exon7:c.973-2A>T)	.	.	0.999976368862214	0.932
18	23865845	G	A	18	26285881	y	y	splicing	TAF4B(NM_005640:exon7:c.973-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.973-1G>A;ENST00000400466:exon7:c.973-1G>A;ENST00000578121:exon7:c.973-1G>A;ENST00000418698:exon7:c.973-1G>A)	.	.	0.999993148181228	0.948
18	23865845	G	C	18	26285881	y	y	splicing	TAF4B(NM_005640:exon7:c.973-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.973-1G>C;ENST00000400466:exon7:c.973-1G>C;ENST00000578121:exon7:c.973-1G>C;ENST00000418698:exon7:c.973-1G>C)	.	.	0.999993148181228	0.948
18	23865845	G	T	18	26285881	y	y	splicing	TAF4B(NM_005640:exon7:c.973-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.973-1G>T;ENST00000400466:exon7:c.973-1G>T;ENST00000578121:exon7:c.973-1G>T;ENST00000418698:exon7:c.973-1G>T)	.	.	0.999993148181228	0.948
18	23865846	A	C	18	26285882	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.A973C:p.K325Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.A973C:p.K325Q;ENSG00000141384:ENST00000400466:exon7:c.A973C:p.K325Q;ENSG00000141384:ENST00000418698:exon7:c.A973C:p.K325Q;ENSG00000141384:ENST00000578121:exon7:c.A973C:p.K325Q;	0.0820129486536727	0.276
18	23865846	A	G	18	26285882	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.A973G:p.K325E;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.A973G:p.K325E;ENSG00000141384:ENST00000400466:exon7:c.A973G:p.K325E;ENSG00000141384:ENST00000418698:exon7:c.A973G:p.K325E;ENSG00000141384:ENST00000578121:exon7:c.A973G:p.K325E;	0.0027021397709087	0.046
18	23865846	A	T	18	26285882	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon7:c.A973T:p.K325X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon7:c.A973T:p.K325X;ENSG00000141384:ENST00000400466:exon7:c.A973T:p.K325X;ENSG00000141384:ENST00000418698:exon7:c.A973T:p.K325X;ENSG00000141384:ENST00000578121:exon7:c.A973T:p.K325X;	0.747215141769714	0.568
18	23865847	A	C	18	26285883	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.A974C:p.K325T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.A974C:p.K325T;ENSG00000141384:ENST00000400466:exon7:c.A974C:p.K325T;ENSG00000141384:ENST00000418698:exon7:c.A974C:p.K325T;ENSG00000141384:ENST00000578121:exon7:c.A974C:p.K325T;	0.00515797345307843	0.076
18	23865847	A	G	18	26285883	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.A974G:p.K325R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.A974G:p.K325R;ENSG00000141384:ENST00000400466:exon7:c.A974G:p.K325R;ENSG00000141384:ENST00000418698:exon7:c.A974G:p.K325R;ENSG00000141384:ENST00000578121:exon7:c.A974G:p.K325R;	0.0082438230554812	0.062
18	23865847	A	T	18	26285883	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.A974T:p.K325I;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.A974T:p.K325I;ENSG00000141384:ENST00000400466:exon7:c.A974T:p.K325I;ENSG00000141384:ENST00000418698:exon7:c.A974T:p.K325I;ENSG00000141384:ENST00000578121:exon7:c.A974T:p.K325I;	0.00196460316088275	0.034
18	23866461	C	A	18	26286497	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.C1588A:p.L530I;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.C1588A:p.L530I;ENSG00000141384:ENST00000400466:exon7:c.C1588A:p.L530I;ENSG00000141384:ENST00000418698:exon7:c.C1588A:p.L530I;ENSG00000141384:ENST00000578121:exon7:c.C1588A:p.L530I;	0.00169293165110188	0.076
18	23866461	C	G	18	26286497	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.C1588G:p.L530V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.C1588G:p.L530V;ENSG00000141384:ENST00000400466:exon7:c.C1588G:p.L530V;ENSG00000141384:ENST00000418698:exon7:c.C1588G:p.L530V;ENSG00000141384:ENST00000578121:exon7:c.C1588G:p.L530V;	0.00278635092012072	0.144
18	23866461	C	T	18	26286497	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon7:c.C1588T:p.L530L;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.C1588T:p.L530L;ENSG00000141384:ENST00000400466:exon7:c.C1588T:p.L530L;ENSG00000141384:ENST00000418698:exon7:c.C1588T:p.L530L;ENSG00000141384:ENST00000578121:exon7:c.C1588T:p.L530L;	0.125618727947172	0.512
18	23866462	T	A	18	26286498	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.T1589A:p.L530Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.T1589A:p.L530Q;ENSG00000141384:ENST00000400466:exon7:c.T1589A:p.L530Q;ENSG00000141384:ENST00000418698:exon7:c.T1589A:p.L530Q;ENSG00000141384:ENST00000578121:exon7:c.T1589A:p.L530Q;	0.00178287321177563	0.138
18	23866462	T	C	18	26286498	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.T1589C:p.L530P;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.T1589C:p.L530P;ENSG00000141384:ENST00000400466:exon7:c.T1589C:p.L530P;ENSG00000141384:ENST00000418698:exon7:c.T1589C:p.L530P;ENSG00000141384:ENST00000578121:exon7:c.T1589C:p.L530P;	0.0243316059721399	0.192
18	23866462	T	G	18	26286498	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon7:c.T1589G:p.L530R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.T1589G:p.L530R;ENSG00000141384:ENST00000400466:exon7:c.T1589G:p.L530R;ENSG00000141384:ENST00000418698:exon7:c.T1589G:p.L530R;ENSG00000141384:ENST00000578121:exon7:c.T1589G:p.L530R;	0.0246869629830855	0.302
18	23866463	A	C	18	26286499	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon7:c.A1590C:p.L530L;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.A1590C:p.L530L;ENSG00000141384:ENST00000400466:exon7:c.A1590C:p.L530L;ENSG00000141384:ENST00000418698:exon7:c.A1590C:p.L530L;ENSG00000141384:ENST00000578121:exon7:c.A1590C:p.L530L;	0.00153041123032843	0.046
18	23866463	A	G	18	26286499	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon7:c.A1590G:p.L530L;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.A1590G:p.L530L;ENSG00000141384:ENST00000400466:exon7:c.A1590G:p.L530L;ENSG00000141384:ENST00000418698:exon7:c.A1590G:p.L530L;ENSG00000141384:ENST00000578121:exon7:c.A1590G:p.L530L;	0.00115637646203152	0.076
18	23866463	A	T	18	26286499	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon7:c.A1590T:p.L530L;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon7:c.A1590T:p.L530L;ENSG00000141384:ENST00000400466:exon7:c.A1590T:p.L530L;ENSG00000141384:ENST00000418698:exon7:c.A1590T:p.L530L;ENSG00000141384:ENST00000578121:exon7:c.A1590T:p.L530L;	0.0122712524960546	0.224
18	23866464	G	A	18	26286500	y	y	splicing	TAF4B(NM_005640:exon7:c.1590+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.1590+1G>A;ENST00000400466:exon7:c.1590+1G>A;ENST00000578121:exon7:c.1590+1G>A;ENST00000418698:exon7:c.1590+1G>A)	.	.	0.999986675681007	0.952
18	23866464	G	C	18	26286500	y	y	splicing	TAF4B(NM_005640:exon7:c.1590+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.1590+1G>C;ENST00000400466:exon7:c.1590+1G>C;ENST00000578121:exon7:c.1590+1G>C;ENST00000418698:exon7:c.1590+1G>C)	.	.	0.999986675681007	0.95
18	23866464	G	T	18	26286500	y	y	splicing	TAF4B(NM_005640:exon7:c.1590+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.1590+1G>T;ENST00000400466:exon7:c.1590+1G>T;ENST00000578121:exon7:c.1590+1G>T;ENST00000418698:exon7:c.1590+1G>T)	.	.	0.999986675681007	0.952
18	23866465	T	A	18	26286501	y	y	splicing	TAF4B(NM_005640:exon7:c.1590+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.1590+2T>A;ENST00000400466:exon7:c.1590+2T>A;ENST00000578121:exon7:c.1590+2T>A;ENST00000418698:exon7:c.1590+2T>A)	.	.	0.999989917668626	0.942
18	23866465	T	C	18	26286501	y	y	splicing	TAF4B(NM_005640:exon7:c.1590+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.1590+2T>C;ENST00000400466:exon7:c.1590+2T>C;ENST00000578121:exon7:c.1590+2T>C;ENST00000418698:exon7:c.1590+2T>C)	.	.	0.999945495543047	0.874
18	23866465	T	G	18	26286501	y	y	splicing	TAF4B(NM_005640:exon7:c.1590+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon7:c.1590+2T>G;ENST00000400466:exon7:c.1590+2T>G;ENST00000578121:exon7:c.1590+2T>G;ENST00000418698:exon7:c.1590+2T>G)	.	.	0.999989917668626	0.942
18	23866466	G	A	18	26286502	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.76471335821204E-4	0.004
18	23866466	G	C	18	26286502	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998993280163485	0.758
18	23866466	G	T	18	26286502	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.99822144293904	0.708
18	23866467	A	C	18	26286503	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.995703033146999	0.916
18	23866467	A	G	18	26286503	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999708035068734	0.98
18	23866467	A	T	18	26286503	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999703143139859	0.956
18	23866468	G	A	18	26286504	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999962609374754	1.0
18	23866468	G	C	18	26286504	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999976951031686	1.0
18	23866468	G	T	18	26286504	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999976951031686	0.996
18	23866469	T	A	18	26286505	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998425146842799	0.774
18	23866469	T	C	18	26286505	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.96361591953502	0.894
18	23866469	T	G	18	26286505	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.989307663786622	0.804
18	23866470	A	C	18	26286506	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00173225402148075	0.0
18	23866470	A	G	18	26286506	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00173225402148075	0.0
18	23866470	A	T	18	26286506	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.50497272926139E-4	0.004
18	23866471	A	C	18	26286507	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.53021993701307E-4	0.0
18	23866471	A	G	18	26286507	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.48945489489506E-4	0.002
18	23866471	A	T	18	26286507	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.29301522115209E-5	0.002
18	23872183	C	A	18	26292219	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.51383879749987E-5	0.004
18	23872183	C	G	18	26292219	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.51383879749987E-5	0.004
18	23872183	C	T	18	26292219	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.51383879749987E-5	0.004
18	23872184	T	A	18	26292220	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.24975915077222E-5	0.0
18	23872184	T	C	18	26292220	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.1020973109669E-5	0.0
18	23872184	T	G	18	26292220	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.24975915077222E-5	0.0
18	23872185	A	C	18	26292221	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.76375603973572E-5	0.002
18	23872185	A	G	18	26292221	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.76375603973572E-5	0.002
18	23872185	A	T	18	26292221	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.76375603973572E-5	0.004
18	23872186	T	A	18	26292222	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.78293834274294E-4	0.038
18	23872186	T	C	18	26292222	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.65332719750715E-4	0.016
18	23872186	T	G	18	26292222	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.65332719750715E-4	0.016
18	23872187	A	C	18	26292223	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00139163683337926	0.026
18	23872187	A	G	18	26292223	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00139163683337926	0.026
18	23872187	A	T	18	26292223	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00144116001894536	0.024
18	23872188	T	A	18	26292224	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.33815804894828E-5	0.0
18	23872188	T	C	18	26292224	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.24975915077222E-5	0.0
18	23872188	T	G	18	26292224	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.24975915077222E-5	0.0
18	23872189	T	A	18	26292225	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00138223643703564	0.008
18	23872189	T	C	18	26292225	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00129742524655713	0.002
18	23872189	T	G	18	26292225	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00172656457628013	0.008
18	23872190	G	A	18	26292226	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.09076764716332E-4	0.0
18	23872190	G	C	18	26292226	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.92068973082216E-5	0.002
18	23872190	G	T	18	26292226	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.37483179494201E-5	0.002
18	23872191	A	C	18	26292227	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00122910381875746	0.044
18	23872191	A	G	18	26292227	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0047214521547174	0.08
18	23872191	A	T	18	26292227	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00380025314882594	0.022
18	23872192	T	A	18	26292228	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.64096032026011E-4	0.038
18	23872192	T	C	18	26292228	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.32999872727381E-4	0.002
18	23872192	T	G	18	26292228	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.95620204554524E-4	0.026
18	23872193	A	C	18	26292229	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000578121:exon8:c.1591-2A>C)	.	.	2.09633338322952E-4	0.0
18	23872193	A	G	18	26292229	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000578121:exon8:c.1591-2A>G)	.	.	1.47593435092575E-4	0.03
18	23872193	A	T	18	26292229	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000578121:exon8:c.1591-2A>T)	.	.	2.34588649675041E-5	0.01
18	23872194	G	A	18	26292230	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000578121:exon8:c.1591-1G>A)	.	.	2.47364831006827E-4	0.004
18	23872194	G	C	18	26292230	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000578121:exon8:c.1591-1G>C)	.	.	1.11904693259161E-4	0.014
18	23872194	G	T	18	26292230	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000578121:exon8:c.1591-1G>T)	.	.	2.73065412592961E-4	0.03
18	23872195	T	A	18	26292231	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1591A:p.F531I;	0.00293376069370446	0.258
18	23872195	T	C	18	26292231	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1591C:p.F531L;	1.20130340191839E-4	0.0
18	23872195	T	G	18	26292231	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1591G:p.F531V;	0.00538202014838398	0.26
18	23872196	T	A	18	26292232	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1592A:p.F531Y;	0.54162404896656	0.42
18	23872196	T	C	18	26292232	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1592C:p.F531S;	0.00390481401136162	0.134
18	23872196	T	G	18	26292232	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1592G:p.F531C;	0.058560613273827	0.27
18	23872198	T	A	18	26292234	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1594A:p.S532T;	0.141333683480918	0.46
18	23872198	T	C	18	26292234	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1594C:p.S532P;	0.00166181132768845	0.056
18	23872198	T	G	18	26292234	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1594G:p.S532A;	0.33312912973505	0.484
18	23872199	C	A	18	26292235	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000578121:exon8:c.C1595A:p.S532X;	0.118188546361363	0.38
18	23872199	C	G	18	26292235	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000578121:exon8:c.C1595G:p.S532X;	0.0260569380715315	0.264
18	23872199	C	T	18	26292235	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.C1595T:p.S532L;	2.39220389713861E-5	0.01
18	23872200	A	C	18	26292236	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.A1596C:p.S532S;	1.64900845349157E-5	0.006
18	23872200	A	G	18	26292236	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.A1596G:p.S532S;	3.03559429472216E-5	0.0
18	23872200	A	T	18	26292236	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.A1596T:p.S532S;	2.2036975801511E-5	0.0
18	23872201	T	A	18	26292237	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1597A:p.L533M;	0.794679655219703	0.608
18	23872201	T	C	18	26292237	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1597C:p.L533L;	0.00201880649523179	0.12
18	23872201	T	G	18	26292237	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1597G:p.L533V;	0.999933024941875	0.968
18	23872202	T	A	18	26292238	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000578121:exon8:c.T1598A:p.L533X;	0.99996382452799	0.896
18	23872202	T	C	18	26292238	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1598C:p.L533S;	0.002434107984477	0.072
18	23872202	T	G	18	26292238	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1598G:p.L533W;	0.0100128583080073	0.212
18	23872203	G	A	18	26292239	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.G1599A:p.L533L;	0.00213202105115772	0.076
18	23872203	G	C	18	26292239	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.G1599C:p.L533F;	2.21114997216205E-4	0.004
18	23872203	G	T	18	26292239	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.G1599T:p.L533F;	8.55709554435823E-5	0.004
18	23872204	T	A	18	26292240	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1600A:p.F534I;	0.140353389892618	0.624
18	23872204	T	C	18	26292240	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1600C:p.F534L;	2.69392324319615E-4	0.074
18	23872204	T	G	18	26292240	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1600G:p.F534V;	0.292450324272221	0.572
18	23872205	T	A	18	26292241	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1601A:p.F534Y;	0.997970955779911	0.91
18	23872205	T	C	18	26292241	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1601C:p.F534S;	0.416267001123118	0.27
18	23872205	T	G	18	26292241	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1601G:p.F534C;	0.973520520978776	0.634
18	23872206	T	A	18	26292242	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1602A:p.F534L;	0.00285312449015115	0.032
18	23872206	T	C	18	26292242	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1602C:p.F534F;	0.0017427033676198	0.032
18	23872206	T	G	18	26292242	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.T1602G:p.F534L;	0.0066755685739959	0.054
18	23872207	C	A	18	26292243	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.C1603A:p.Q535K;	0.709484762373279	0.678
18	23872207	C	G	18	26292243	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.C1603G:p.Q535E;	0.999813244649385	0.956
18	23872207	C	T	18	26292243	y	n	intronic	TAF4B	.	.	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000578121:exon8:c.C1603T:p.Q535X;	0.271460419834924	0.38
18	23872208	A	C	18	26292244	y	n	splicing	TAF4B(NM_005640:exon8:c.1591-2A>C)	.	.	exonic;splicing	ENSG00000141384;ENSG00000141384(ENST00000269142:exon8:c.1591-2A>C;ENST00000400466:exon8:c.1591-2A>C;ENST00000418698:exon8:c.1591-2A>C)	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.A1604C:p.Q535P;	0.999989707597594	0.934
18	23872208	A	G	18	26292244	y	n	splicing	TAF4B(NM_005640:exon8:c.1591-2A>G)	.	.	exonic;splicing	ENSG00000141384;ENSG00000141384(ENST00000269142:exon8:c.1591-2A>G;ENST00000400466:exon8:c.1591-2A>G;ENST00000418698:exon8:c.1591-2A>G)	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.A1604G:p.Q535R;	0.999989707597594	0.934
18	23872208	A	T	18	26292244	y	n	splicing	TAF4B(NM_005640:exon8:c.1591-2A>T)	.	.	exonic;splicing	ENSG00000141384;ENSG00000141384(ENST00000269142:exon8:c.1591-2A>T;ENST00000400466:exon8:c.1591-2A>T;ENST00000418698:exon8:c.1591-2A>T)	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.A1604T:p.Q535L;	0.999992076683048	0.934
18	23872209	G	A	18	26292245	y	n	splicing	TAF4B(NM_005640:exon8:c.1591-1G>A)	.	.	exonic;splicing	ENSG00000141384;ENSG00000141384(ENST00000269142:exon8:c.1591-1G>A;ENST00000400466:exon8:c.1591-1G>A;ENST00000418698:exon8:c.1591-1G>A)	synonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.G1605A:p.Q535Q;	0.999989528922238	0.932
18	23872209	G	C	18	26292245	y	n	splicing	TAF4B(NM_005640:exon8:c.1591-1G>C)	.	.	exonic;splicing	ENSG00000141384;ENSG00000141384(ENST00000269142:exon8:c.1591-1G>C;ENST00000400466:exon8:c.1591-1G>C;ENST00000418698:exon8:c.1591-1G>C)	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.G1605C:p.Q535H;	0.999989528922238	0.94
18	23872209	G	T	18	26292245	y	n	splicing	TAF4B(NM_005640:exon8:c.1591-1G>T)	.	.	exonic;splicing	ENSG00000141384;ENSG00000141384(ENST00000269142:exon8:c.1591-1G>T;ENST00000400466:exon8:c.1591-1G>T;ENST00000418698:exon8:c.1591-1G>T)	nonsynonymous SNV	ENSG00000141384:ENST00000578121:exon8:c.G1605T:p.Q535H;	0.999989528922238	0.94
18	23872210	G	A	18	26292246	y	n	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.G1591A:p.V531I;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.G1591A:p.V531I;ENSG00000141384:ENST00000400466:exon8:c.G1591A:p.V531I;ENSG00000141384:ENST00000418698:exon8:c.G1591A:p.V531I;ENSG00000141384:ENST00000578121:exon8:c.G1606A:p.V536I;	0.0707779515500069	0.292
18	23872210	G	C	18	26292246	y	n	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.G1591C:p.V531L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.G1591C:p.V531L;ENSG00000141384:ENST00000400466:exon8:c.G1591C:p.V531L;ENSG00000141384:ENST00000418698:exon8:c.G1591C:p.V531L;ENSG00000141384:ENST00000578121:exon8:c.G1606C:p.V536L;	0.332914591399802	0.776
18	23872210	G	T	18	26292246	y	n	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.G1591T:p.V531L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.G1591T:p.V531L;ENSG00000141384:ENST00000400466:exon8:c.G1591T:p.V531L;ENSG00000141384:ENST00000418698:exon8:c.G1591T:p.V531L;ENSG00000141384:ENST00000578121:exon8:c.G1606T:p.V536L;	0.877758015755775	0.784
18	23872211	T	A	18	26292247	y	n	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.T1592A:p.V531E;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.T1592A:p.V531E;ENSG00000141384:ENST00000400466:exon8:c.T1592A:p.V531E;ENSG00000141384:ENST00000418698:exon8:c.T1592A:p.V531E;ENSG00000141384:ENST00000578121:exon8:c.T1607A:p.V536E;	0.0222133267002824	0.136
18	23872211	T	C	18	26292247	y	n	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.T1592C:p.V531A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.T1592C:p.V531A;ENSG00000141384:ENST00000400466:exon8:c.T1592C:p.V531A;ENSG00000141384:ENST00000418698:exon8:c.T1592C:p.V531A;ENSG00000141384:ENST00000578121:exon8:c.T1607C:p.V536A;	0.0199379412224583	0.196
18	23872211	T	G	18	26292247	y	n	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.T1592G:p.V531G;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.T1592G:p.V531G;ENSG00000141384:ENST00000400466:exon8:c.T1592G:p.V531G;ENSG00000141384:ENST00000418698:exon8:c.T1592G:p.V531G;ENSG00000141384:ENST00000578121:exon8:c.T1607G:p.V536G;	0.0252483452481981	0.13
18	23872343	C	A	18	26292379	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.C1724A:p.P575Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.C1724A:p.P575Q;ENSG00000141384:ENST00000400466:exon8:c.C1724A:p.P575Q;ENSG00000141384:ENST00000418698:exon8:c.C1724A:p.P575Q;ENSG00000141384:ENST00000578121:exon8:c.C1739A:p.P580Q;	0.00235286079400705	0.15
18	23872343	C	G	18	26292379	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.C1724G:p.P575R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.C1724G:p.P575R;ENSG00000141384:ENST00000400466:exon8:c.C1724G:p.P575R;ENSG00000141384:ENST00000418698:exon8:c.C1724G:p.P575R;ENSG00000141384:ENST00000578121:exon8:c.C1739G:p.P580R;	0.00253801983417702	0.164
18	23872343	C	T	18	26292379	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.C1724T:p.P575L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.C1724T:p.P575L;ENSG00000141384:ENST00000400466:exon8:c.C1724T:p.P575L;ENSG00000141384:ENST00000418698:exon8:c.C1724T:p.P575L;ENSG00000141384:ENST00000578121:exon8:c.C1739T:p.P580L;	0.970524265214179	0.66
18	23872344	A	C	18	26292380	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon8:c.A1725C:p.P575P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.A1725C:p.P575P;ENSG00000141384:ENST00000400466:exon8:c.A1725C:p.P575P;ENSG00000141384:ENST00000418698:exon8:c.A1725C:p.P575P;ENSG00000141384:ENST00000578121:exon8:c.A1740C:p.P580P;	0.996440847161418	0.92
18	23872344	A	G	18	26292380	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon8:c.A1725G:p.P575P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.A1725G:p.P575P;ENSG00000141384:ENST00000400466:exon8:c.A1725G:p.P575P;ENSG00000141384:ENST00000418698:exon8:c.A1725G:p.P575P;ENSG00000141384:ENST00000578121:exon8:c.A1740G:p.P580P;	0.992878828741058	0.932
18	23872344	A	T	18	26292380	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon8:c.A1725T:p.P575P;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.A1725T:p.P575P;ENSG00000141384:ENST00000400466:exon8:c.A1725T:p.P575P;ENSG00000141384:ENST00000418698:exon8:c.A1725T:p.P575P;ENSG00000141384:ENST00000578121:exon8:c.A1740T:p.P580P;	0.994207431695972	0.848
18	23872345	G	A	18	26292381	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.G1726A:p.A576T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.G1726A:p.A576T;ENSG00000141384:ENST00000400466:exon8:c.G1726A:p.A576T;ENSG00000141384:ENST00000418698:exon8:c.G1726A:p.A576T;ENSG00000141384:ENST00000578121:exon8:c.G1741A:p.A581T;	0.999991144859313	0.99
18	23872345	G	C	18	26292381	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.G1726C:p.A576P;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.G1726C:p.A576P;ENSG00000141384:ENST00000400466:exon8:c.G1726C:p.A576P;ENSG00000141384:ENST00000418698:exon8:c.G1726C:p.A576P;ENSG00000141384:ENST00000578121:exon8:c.G1741C:p.A581P;	0.999974066920796	0.972
18	23872345	G	T	18	26292381	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon8:c.G1726T:p.A576S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon8:c.G1726T:p.A576S;ENSG00000141384:ENST00000400466:exon8:c.G1726T:p.A576S;ENSG00000141384:ENST00000418698:exon8:c.G1726T:p.A576S;ENSG00000141384:ENST00000578121:exon8:c.G1741T:p.A581S;	0.999918912848393	0.956
18	23872346	G	A	18	26292382	y	y	splicing	TAF4B(NM_005640:exon8:c.1726+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon8:c.1726+1G>A;ENST00000400466:exon8:c.1726+1G>A;ENST00000578121:exon8:c.1741+1G>A;ENST00000418698:exon8:c.1726+1G>A)	.	.	0.999930329503934	0.934
18	23872346	G	C	18	26292382	y	y	splicing	TAF4B(NM_005640:exon8:c.1726+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon8:c.1726+1G>C;ENST00000400466:exon8:c.1726+1G>C;ENST00000578121:exon8:c.1741+1G>C;ENST00000418698:exon8:c.1726+1G>C)	.	.	0.999930329503934	0.944
18	23872346	G	T	18	26292382	y	y	splicing	TAF4B(NM_005640:exon8:c.1726+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon8:c.1726+1G>T;ENST00000400466:exon8:c.1726+1G>T;ENST00000578121:exon8:c.1741+1G>T;ENST00000418698:exon8:c.1726+1G>T)	.	.	0.999930329503934	0.934
18	23872347	T	A	18	26292383	y	y	splicing	TAF4B(NM_005640:exon8:c.1726+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon8:c.1726+2T>A;ENST00000400466:exon8:c.1726+2T>A;ENST00000578121:exon8:c.1741+2T>A;ENST00000418698:exon8:c.1726+2T>A)	.	.	0.999955107838025	0.95
18	23872347	T	C	18	26292383	y	y	splicing	TAF4B(NM_005640:exon8:c.1726+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon8:c.1726+2T>C;ENST00000400466:exon8:c.1726+2T>C;ENST00000578121:exon8:c.1741+2T>C;ENST00000418698:exon8:c.1726+2T>C)	.	.	0.946647856771967	0.61
18	23872347	T	G	18	26292383	y	y	splicing	TAF4B(NM_005640:exon8:c.1726+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon8:c.1726+2T>G;ENST00000400466:exon8:c.1726+2T>G;ENST00000578121:exon8:c.1741+2T>G;ENST00000418698:exon8:c.1726+2T>G)	.	.	0.999955521744805	0.936
18	23872348	A	C	18	26292384	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999440827431431	0.936
18	23872348	A	G	18	26292384	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.892501500544562	0.71
18	23872348	A	T	18	26292384	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.997528623108907	0.796
18	23872349	G	A	18	26292385	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.20127679517543E-4	0.034
18	23872349	G	C	18	26292385	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.40221047230553E-5	0.02
18	23872349	G	T	18	26292385	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.25318106536097E-5	0.008
18	23872350	A	C	18	26292386	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.80541200508743E-4	0.06
18	23872350	A	G	18	26292386	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.78424336064278E-5	0.186
18	23872350	A	T	18	26292386	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.02991336116125E-4	0.114
18	23872351	T	A	18	26292387	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7356189249158E-5	0.058
18	23872351	T	C	18	26292387	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.43408858687075E-4	0.118
18	23872351	T	G	18	26292387	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.84977632190379E-5	0.09
18	23872352	G	A	18	26292388	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.3072034945022E-5	0.004
18	23872352	G	C	18	26292388	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.33015329175278E-5	0.006
18	23872352	G	T	18	26292388	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.42523090183729E-5	0.004
18	23872353	C	A	18	26292389	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.58801315921284E-4	0.006
18	23872353	C	G	18	26292389	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.92069234098618E-4	0.012
18	23872353	C	T	18	26292389	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.79194202264068E-5	0.0
18	23873378	T	A	18	26293414	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.47484094969204E-4	0.128
18	23873378	T	C	18	26293414	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.84598094397431E-4	0.058
18	23873378	T	G	18	26293414	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.61989904283064E-4	0.134
18	23873379	T	A	18	26293415	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999235914088965	0.88
18	23873379	T	C	18	26293415	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.53671189182475E-4	0.054
18	23873379	T	G	18	26293415	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.57184196201207E-4	0.164
18	23873380	G	A	18	26293416	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.08052096694495E-4	0.042
18	23873380	G	C	18	26293416	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.64281890789845E-5	0.022
18	23873380	G	T	18	26293416	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.34788374080312E-5	0.01
18	23873381	T	A	18	26293417	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.85510803384213E-4	0.09
18	23873381	T	C	18	26293417	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.2399780153514E-5	0.048
18	23873381	T	G	18	26293417	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.38422055659772E-4	0.088
18	23873382	T	A	18	26293418	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0114369129102604	0.152
18	23873382	T	C	18	26293418	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00218564864837076	0.02
18	23873382	T	G	18	26293418	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00875867397025518	0.124
18	23873383	T	A	18	26293419	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00816921648033024	0.124
18	23873383	T	C	18	26293419	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.39780861935787E-4	0.0
18	23873383	T	G	18	26293419	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00166900639938169	0.066
18	23873384	T	A	18	26293420	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00689396533247845	0.188
18	23873384	T	C	18	26293420	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.52748703068467E-4	0.018
18	23873384	T	G	18	26293420	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0151303875622137	0.196
18	23873385	T	A	18	26293421	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00122652717013329	0.182
18	23873385	T	C	18	26293421	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00171565362692889	0.026
18	23873385	T	G	18	26293421	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00352969878601401	0.188
18	23873386	A	C	18	26293422	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.00852618055693E-5	0.002
18	23873386	A	G	18	26293422	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.27226469869517E-4	0.028
18	23873386	A	T	18	26293422	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.02953081502102E-4	0.016
18	23873387	T	A	18	26293423	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0222495396994373	0.168
18	23873387	T	C	18	26293423	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00111293334451757	0.012
18	23873387	T	G	18	26293423	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999276962388627	0.784
18	23873388	A	C	18	26293424	y	y	splicing	TAF4B(NM_005640:exon9:c.1727-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1727-2A>C;ENST00000400466:exon9:c.1727-2A>C;ENST00000578121:exon9:c.1742-2A>C;ENST00000418698:exon9:c.1727-2A>C)	.	.	0.999992446697775	0.93
18	23873388	A	G	18	26293424	y	y	splicing	TAF4B(NM_005640:exon9:c.1727-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1727-2A>G;ENST00000400466:exon9:c.1727-2A>G;ENST00000578121:exon9:c.1742-2A>G;ENST00000418698:exon9:c.1727-2A>G)	.	.	0.999992446697775	0.93
18	23873388	A	T	18	26293424	y	y	splicing	TAF4B(NM_005640:exon9:c.1727-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1727-2A>T;ENST00000400466:exon9:c.1727-2A>T;ENST00000578121:exon9:c.1742-2A>T;ENST00000418698:exon9:c.1727-2A>T)	.	.	0.999992446697775	0.93
18	23873389	G	A	18	26293425	y	y	splicing	TAF4B(NM_005640:exon9:c.1727-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1727-1G>A;ENST00000400466:exon9:c.1727-1G>A;ENST00000578121:exon9:c.1742-1G>A;ENST00000418698:exon9:c.1727-1G>A)	.	.	0.999988247793601	0.928
18	23873389	G	C	18	26293425	y	y	splicing	TAF4B(NM_005640:exon9:c.1727-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1727-1G>C;ENST00000400466:exon9:c.1727-1G>C;ENST00000578121:exon9:c.1742-1G>C;ENST00000418698:exon9:c.1727-1G>C)	.	.	0.999988247793601	0.928
18	23873389	G	T	18	26293425	y	y	splicing	TAF4B(NM_005640:exon9:c.1727-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1727-1G>T;ENST00000400466:exon9:c.1727-1G>T;ENST00000578121:exon9:c.1742-1G>T;ENST00000418698:exon9:c.1727-1G>T)	.	.	0.999988247793601	0.928
18	23873390	C	A	18	26293426	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.C1727A:p.A576D;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.C1727A:p.A576D;ENSG00000141384:ENST00000400466:exon9:c.C1727A:p.A576D;ENSG00000141384:ENST00000418698:exon9:c.C1727A:p.A576D;ENSG00000141384:ENST00000578121:exon9:c.C1742A:p.A581D;	7.00698578563825E-4	0.008
18	23873390	C	G	18	26293426	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.C1727G:p.A576G;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.C1727G:p.A576G;ENSG00000141384:ENST00000400466:exon9:c.C1727G:p.A576G;ENSG00000141384:ENST00000418698:exon9:c.C1727G:p.A576G;ENSG00000141384:ENST00000578121:exon9:c.C1742G:p.A581G;	8.73643381713543E-4	0.07
18	23873390	C	T	18	26293426	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.C1727T:p.A576V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.C1727T:p.A576V;ENSG00000141384:ENST00000400466:exon9:c.C1727T:p.A576V;ENSG00000141384:ENST00000418698:exon9:c.C1727T:p.A576V;ENSG00000141384:ENST00000578121:exon9:c.C1742T:p.A581V;	0.00360375336236521	0.168
18	23873391	T	A	18	26293427	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon9:c.T1728A:p.A576A;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.T1728A:p.A576A;ENSG00000141384:ENST00000400466:exon9:c.T1728A:p.A576A;ENSG00000141384:ENST00000418698:exon9:c.T1728A:p.A576A;ENSG00000141384:ENST00000578121:exon9:c.T1743A:p.A581A;	0.00234431594441467	0.014
18	23873391	T	C	18	26293427	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon9:c.T1728C:p.A576A;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.T1728C:p.A576A;ENSG00000141384:ENST00000400466:exon9:c.T1728C:p.A576A;ENSG00000141384:ENST00000418698:exon9:c.T1728C:p.A576A;ENSG00000141384:ENST00000578121:exon9:c.T1743C:p.A581A;	0.0028775299004017	0.028
18	23873391	T	G	18	26293427	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon9:c.T1728G:p.A576A;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.T1728G:p.A576A;ENSG00000141384:ENST00000400466:exon9:c.T1728G:p.A576A;ENSG00000141384:ENST00000418698:exon9:c.T1728G:p.A576A;ENSG00000141384:ENST00000578121:exon9:c.T1743G:p.A581A;	0.00131379166792563	0.0
18	23873493	C	A	18	26293529	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.C1830A:p.F610L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.C1830A:p.F610L;ENSG00000141384:ENST00000400466:exon9:c.C1830A:p.F610L;ENSG00000141384:ENST00000418698:exon9:c.C1830A:p.F610L;ENSG00000141384:ENST00000578121:exon9:c.C1845A:p.F615L;	0.00126738187017946	0.044
18	23873493	C	G	18	26293529	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.C1830G:p.F610L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.C1830G:p.F610L;ENSG00000141384:ENST00000400466:exon9:c.C1830G:p.F610L;ENSG00000141384:ENST00000418698:exon9:c.C1830G:p.F610L;ENSG00000141384:ENST00000578121:exon9:c.C1845G:p.F615L;	9.3985681462074E-4	0.028
18	23873493	C	T	18	26293529	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon9:c.C1830T:p.F610F;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.C1830T:p.F610F;ENSG00000141384:ENST00000400466:exon9:c.C1830T:p.F610F;ENSG00000141384:ENST00000418698:exon9:c.C1830T:p.F610F;ENSG00000141384:ENST00000578121:exon9:c.C1845T:p.F615F;	0.0204930801259072	0.162
18	23873494	C	A	18	26293530	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon9:c.C1831A:p.R611R;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.C1831A:p.R611R;ENSG00000141384:ENST00000400466:exon9:c.C1831A:p.R611R;ENSG00000141384:ENST00000418698:exon9:c.C1831A:p.R611R;ENSG00000141384:ENST00000578121:exon9:c.C1846A:p.R616R;	3.66049215117022E-5	0.066
18	23873494	C	G	18	26293530	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.C1831G:p.R611G;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.C1831G:p.R611G;ENSG00000141384:ENST00000400466:exon9:c.C1831G:p.R611G;ENSG00000141384:ENST00000418698:exon9:c.C1831G:p.R611G;ENSG00000141384:ENST00000578121:exon9:c.C1846G:p.R616G;	1.18666044585077E-4	0.04
18	23873494	C	T	18	26293530	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon9:c.C1831T:p.R611X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon9:c.C1831T:p.R611X;ENSG00000141384:ENST00000578121:exon9:c.C1846T:p.R616X;	0.0192547952596247	0.316
18	23873495	G	A	18	26293531	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.G1832A:p.R611Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.G1832A:p.R611Q;ENSG00000141384:ENST00000400466:exon9:c.G1832A:p.R611Q;ENSG00000141384:ENST00000418698:exon9:c.G1832A:p.R611Q;ENSG00000141384:ENST00000578121:exon9:c.G1847A:p.R616Q;	0.999934905013845	0.998
18	23873495	G	C	18	26293531	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.G1832C:p.R611P;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.G1832C:p.R611P;ENSG00000141384:ENST00000400466:exon9:c.G1832C:p.R611P;ENSG00000141384:ENST00000418698:exon9:c.G1832C:p.R611P;ENSG00000141384:ENST00000578121:exon9:c.G1847C:p.R616P;	0.999973676310025	0.998
18	23873495	G	T	18	26293531	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon9:c.G1832T:p.R611L;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon9:c.G1832T:p.R611L;ENSG00000141384:ENST00000400466:exon9:c.G1832T:p.R611L;ENSG00000141384:ENST00000418698:exon9:c.G1832T:p.R611L;ENSG00000141384:ENST00000578121:exon9:c.G1847T:p.R616L;	0.999826628851425	0.998
18	23873496	G	A	18	26293532	y	y	splicing	TAF4B(NM_005640:exon9:c.1832+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1832+1G>A;ENST00000400466:exon9:c.1832+1G>A;ENST00000578121:exon9:c.1847+1G>A;ENST00000418698:exon9:c.1832+1G>A)	.	.	0.999988247793601	0.936
18	23873496	G	C	18	26293532	y	y	splicing	TAF4B(NM_005640:exon9:c.1832+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1832+1G>C;ENST00000400466:exon9:c.1832+1G>C;ENST00000578121:exon9:c.1847+1G>C;ENST00000418698:exon9:c.1832+1G>C)	.	.	0.999988247793601	0.936
18	23873496	G	T	18	26293532	y	y	splicing	TAF4B(NM_005640:exon9:c.1832+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1832+1G>T;ENST00000400466:exon9:c.1832+1G>T;ENST00000578121:exon9:c.1847+1G>T;ENST00000418698:exon9:c.1832+1G>T)	.	.	0.999988247793601	0.936
18	23873497	T	A	18	26293533	y	y	splicing	TAF4B(NM_005640:exon9:c.1832+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1832+2T>A;ENST00000400466:exon9:c.1832+2T>A;ENST00000578121:exon9:c.1847+2T>A;ENST00000418698:exon9:c.1832+2T>A)	.	.	0.999993519952936	0.93
18	23873497	T	C	18	26293533	y	y	splicing	TAF4B(NM_005640:exon9:c.1832+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1832+2T>C;ENST00000400466:exon9:c.1832+2T>C;ENST00000578121:exon9:c.1847+2T>C;ENST00000418698:exon9:c.1832+2T>C)	.	.	0.999935627936562	0.87
18	23873497	T	G	18	26293533	y	y	splicing	TAF4B(NM_005640:exon9:c.1832+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon9:c.1832+2T>G;ENST00000400466:exon9:c.1832+2T>G;ENST00000578121:exon9:c.1847+2T>G;ENST00000418698:exon9:c.1832+2T>G)	.	.	0.999993519952936	0.928
18	23873498	A	C	18	26293534	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.997160231096709	0.848
18	23873498	A	G	18	26293534	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.429757307049308	0.362
18	23873498	A	T	18	26293534	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999451920940279	0.932
18	23873499	A	C	18	26293535	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.943835055007956	0.472
18	23873499	A	G	18	26293535	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.514178262608484	0.424
18	23873499	A	T	18	26293535	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.719780671204878	0.426
18	23873500	G	A	18	26293536	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.994949279248713	0.694
18	23873500	G	C	18	26293536	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.99683439460211	0.766
18	23873500	G	T	18	26293536	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.996130970390642	0.632
18	23873501	A	C	18	26293537	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00175524087641461	0.04
18	23873501	A	G	18	26293537	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.09084130023358E-4	0.0
18	23873501	A	T	18	26293537	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.96159855798382E-4	0.016
18	23873502	A	C	18	26293538	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.69791999527781E-5	0.0
18	23873502	A	G	18	26293538	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.69791999527781E-5	0.0
18	23873502	A	T	18	26293538	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.10853470952722E-4	0.002
18	23873503	A	C	18	26293539	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.59139985268799E-4	0.002
18	23873503	A	G	18	26293539	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.59139985268799E-4	0.002
18	23873503	A	T	18	26293539	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.59139985268799E-4	0.006
18	23875147	T	A	18	26295183	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875147	T	C	18	26295183	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875147	T	G	18	26295183	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875148	T	A	18	26295184	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875148	T	C	18	26295184	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875148	T	G	18	26295184	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875149	T	A	18	26295185	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.45277156108894E-5	0.0
18	23875149	T	C	18	26295185	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.45277156108894E-5	0.0
18	23875149	T	G	18	26295185	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.45277156108894E-5	0.0
18	23875150	T	A	18	26295186	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875150	T	C	18	26295186	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875150	T	G	18	26295186	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875151	A	C	18	26295187	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875151	A	G	18	26295187	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875151	A	T	18	26295187	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875152	T	A	18	26295188	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.2694790039333E-6	0.002
18	23875152	T	C	18	26295188	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.2694790039333E-6	0.002
18	23875152	T	G	18	26295188	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.2694790039333E-6	0.002
18	23875153	T	A	18	26295189	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875153	T	C	18	26295189	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875153	T	G	18	26295189	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875154	T	A	18	26295190	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875154	T	C	18	26295190	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875154	T	G	18	26295190	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875155	G	A	18	26295191	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.19654958573966E-5	0.02
18	23875155	G	C	18	26295191	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.13286197146302E-4	0.02
18	23875155	G	T	18	26295191	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.19654958573966E-5	0.02
18	23875156	T	A	18	26295192	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875156	T	C	18	26295192	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875156	T	G	18	26295192	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.37814120173621E-5	0.018
18	23875157	A	C	18	26295193	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000400466:exon10:c.1833-2A>C;ENST00000418698:exon10:c.1833-2A>C)	.	.	1.60509126160735E-4	0.022
18	23875157	A	G	18	26295193	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000400466:exon10:c.1833-2A>G;ENST00000418698:exon10:c.1833-2A>G)	.	.	1.60509126160735E-4	0.022
18	23875157	A	T	18	26295193	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000400466:exon10:c.1833-2A>T;ENST00000418698:exon10:c.1833-2A>T)	.	.	1.60509126160735E-4	0.054
18	23875158	G	A	18	26295194	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000400466:exon10:c.1833-1G>A;ENST00000418698:exon10:c.1833-1G>A)	.	.	2.10813846295192E-5	0.0
18	23875158	G	C	18	26295194	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000400466:exon10:c.1833-1G>C;ENST00000418698:exon10:c.1833-1G>C)	.	.	2.00978055156652E-5	0.0
18	23875158	G	T	18	26295194	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000400466:exon10:c.1833-1G>T;ENST00000418698:exon10:c.1833-1G>T)	.	.	2.10813846295192E-5	0.004
18	23875159	G	A	18	26295195	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000400466:exon10:c.G1833A:p.R611R;ENSG00000141384:ENST00000418698:exon10:c.G1833A:p.R611R;	6.19654958573966E-5	0.02
18	23875159	G	C	18	26295195	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000400466:exon10:c.G1833C:p.R611R;ENSG00000141384:ENST00000418698:exon10:c.G1833C:p.R611R;	1.13286197146302E-4	0.02
18	23875159	G	T	18	26295195	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000400466:exon10:c.G1833T:p.R611R;ENSG00000141384:ENST00000418698:exon10:c.G1833T:p.R611R;	1.13286197146302E-4	0.02
18	23875160	T	A	18	26295196	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000400466:exon10:c.T1834A:p.S612T;ENSG00000141384:ENST00000418698:exon10:c.T1834A:p.S612T;	5.24642887656211E-5	0.01
18	23875160	T	C	18	26295196	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000400466:exon10:c.T1834C:p.S612P;ENSG00000141384:ENST00000418698:exon10:c.T1834C:p.S612P;	3.92337711406789E-5	0.002
18	23875160	T	G	18	26295196	n	y	intronic	TAF4B	.	.	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000400466:exon10:c.T1834G:p.S612A;ENSG00000141384:ENST00000418698:exon10:c.T1834G:p.S612A;	5.24642887656211E-5	0.026
18	23875276	C	A	18	26295312	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875276	C	G	18	26295312	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875276	C	T	18	26295312	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875277	A	C	18	26295313	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.20590404879984E-5	0.004
18	23875277	A	G	18	26295313	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.20590404879984E-5	0.004
18	23875277	A	T	18	26295313	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.20590404879984E-5	0.004
18	23875278	G	A	18	26295314	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.0288925866825E-5	0.002
18	23875278	G	C	18	26295314	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.0288925866825E-5	0.002
18	23875278	G	T	18	26295314	n	y	intronic	TAF4B	.	.	UTR3	ENSG00000141384	.	.	1.0288925866825E-5	0.002
18	23875279	G	A	18	26295315	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000418698:exon10:c.1952+1G>A)	.	.	1.69884688945688E-4	0.01
18	23875279	G	C	18	26295315	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000418698:exon10:c.1952+1G>C)	.	.	2.27163650926202E-4	0.022
18	23875279	G	T	18	26295315	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000418698:exon10:c.1952+1G>T)	.	.	2.27163650926202E-4	0.046
18	23875280	T	A	18	26295316	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000418698:exon10:c.1952+2T>A)	.	.	2.18154394036611E-4	0.012
18	23875280	T	C	18	26295316	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000418698:exon10:c.1952+2T>C)	.	.	1.20034981273023E-4	0.008
18	23875280	T	G	18	26295316	n	y	intronic	TAF4B	.	.	splicing	ENSG00000141384(ENST00000418698:exon10:c.1952+2T>G)	.	.	1.20034981273023E-4	0.008
18	23875281	A	C	18	26295317	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875281	A	G	18	26295317	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875281	A	T	18	26295317	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.99153316237132E-5	0.0
18	23875282	T	A	18	26295318	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875282	T	C	18	26295318	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875282	T	G	18	26295318	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875283	A	C	18	26295319	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875283	A	G	18	26295319	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875283	A	T	18	26295319	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875284	G	A	18	26295320	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.19654958573966E-5	0.016
18	23875284	G	C	18	26295320	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.19654958573966E-5	0.02
18	23875284	G	T	18	26295320	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.19654958573966E-5	0.022
18	23875285	A	C	18	26295321	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875285	A	G	18	26295321	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875285	A	T	18	26295321	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875286	A	C	18	26295322	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875286	A	G	18	26295322	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23875286	A	T	18	26295322	n	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.7625743089426E-5	0.016
18	23895181	T	A	18	26315217	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.78794526911432E-5	0.07
18	23895181	T	C	18	26315217	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.04240478942294E-5	0.022
18	23895181	T	G	18	26315217	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.50149871980315E-5	0.072
18	23895182	T	A	18	26315218	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.82013162523666E-4	0.218
18	23895182	T	C	18	26315218	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.41341957326972E-4	0.05
18	23895182	T	G	18	26315218	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.0485770704116E-4	0.158
18	23895183	T	A	18	26315219	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00278050754611261	0.228
18	23895183	T	C	18	26315219	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00241487734922304	0.038
18	23895183	T	G	18	26315219	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00212676382316457	0.112
18	23895184	T	A	18	26315220	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.733786486904218	0.644
18	23895184	T	C	18	26315220	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.42950719476783	0.562
18	23895184	T	G	18	26315220	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.626612632245028	0.578
18	23895185	T	A	18	26315221	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00101166515688277	0.12
18	23895185	T	C	18	26315221	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.91906379039558E-4	0.04
18	23895185	T	G	18	26315221	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.88447135440428E-4	0.152
18	23895186	C	A	18	26315222	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.61789153137983E-5	0.028
18	23895186	C	G	18	26315222	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.86984438177237E-5	0.026
18	23895186	C	T	18	26315222	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.44751576066242E-5	0.0
18	23895187	T	A	18	26315223	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.42160950832495E-4	0.05
18	23895187	T	C	18	26315223	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.90221114139699E-5	0.002
18	23895187	T	G	18	26315223	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00258624400825102	0.108
18	23895188	A	C	18	26315224	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.36248849223977E-5	0.004
18	23895188	A	G	18	26315224	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.37478439971158E-4	0.006
18	23895188	A	T	18	26315224	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.13346537175422E-4	0.02
18	23895189	T	A	18	26315225	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.65914125326E-4	0.004
18	23895189	T	C	18	26315225	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.35027820571043E-4	0.006
18	23895189	T	G	18	26315225	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.897262629511892	0.71
18	23895190	T	A	18	26315226	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0679288370261999	0.24
18	23895190	T	C	18	26315226	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.61570892543272E-5	0.012
18	23895190	T	G	18	26315226	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998284950947964	0.748
18	23895191	A	C	18	26315227	y	y	splicing	TAF4B(NM_005640:exon10:c.1833-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.1833-2A>C;ENST00000578121:exon10:c.1848-2A>C;ENST00000418698:exon11:c.1953-2A>C)	.	.	0.999988247793601	0.932
18	23895191	A	G	18	26315227	y	y	splicing	TAF4B(NM_005640:exon10:c.1833-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.1833-2A>G;ENST00000578121:exon10:c.1848-2A>G;ENST00000418698:exon11:c.1953-2A>G)	.	.	0.999988247793601	0.932
18	23895191	A	T	18	26315227	y	y	splicing	TAF4B(NM_005640:exon10:c.1833-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.1833-2A>T;ENST00000578121:exon10:c.1848-2A>T;ENST00000418698:exon11:c.1953-2A>T)	.	.	0.999988247793601	0.932
18	23895192	G	A	18	26315228	y	y	splicing	TAF4B(NM_005640:exon10:c.1833-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.1833-1G>A;ENST00000578121:exon10:c.1848-1G>A;ENST00000418698:exon11:c.1953-1G>A)	.	.	0.999990361384395	0.938
18	23895192	G	C	18	26315228	y	y	splicing	TAF4B(NM_005640:exon10:c.1833-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.1833-1G>C;ENST00000578121:exon10:c.1848-1G>C;ENST00000418698:exon11:c.1953-1G>C)	.	.	0.999990361384395	0.938
18	23895192	G	T	18	26315228	y	y	splicing	TAF4B(NM_005640:exon10:c.1833-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.1833-1G>T;ENST00000578121:exon10:c.1848-1G>T;ENST00000418698:exon11:c.1953-1G>T)	.	.	0.999990361384395	0.938
18	23895193	A	C	18	26315229	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon10:c.A1833C:p.R611R;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.A1833C:p.R611R;ENSG00000141384:ENST00000578121:exon10:c.A1848C:p.R616R;	4.90615052876377E-4	0.022
18	23895193	A	G	18	26315229	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon10:c.A1833G:p.R611R;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.A1833G:p.R611R;ENSG00000141384:ENST00000578121:exon10:c.A1848G:p.R616R;	3.89497397758421E-5	0.022
18	23895193	A	T	18	26315229	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon10:c.A1833T:p.R611R;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.A1833T:p.R611R;ENSG00000141384:ENST00000578121:exon10:c.A1848T:p.R616R;	4.85513512444637E-4	0.024
18	23895194	G	A	18	26315230	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.G1834A:p.D612N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.G1834A:p.D612N;ENSG00000141384:ENST00000578121:exon10:c.G1849A:p.D617N;	0.0844449529422747	0.286
18	23895194	G	C	18	26315230	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.G1834C:p.D612H;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.G1834C:p.D612H;ENSG00000141384:ENST00000578121:exon10:c.G1849C:p.D617H;	0.00349512810077732	0.078
18	23895194	G	T	18	26315230	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.G1834T:p.D612Y;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.G1834T:p.D612Y;ENSG00000141384:ENST00000578121:exon10:c.G1849T:p.D617Y;	0.00238044595789632	0.038
18	23895360	T	A	18	26315396	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.T2000A:p.I667N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.T2000A:p.I667N;ENSG00000141384:ENST00000578121:exon10:c.T2015A:p.I672N;	0.00243314642261471	0.016
18	23895360	T	C	18	26315396	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.T2000C:p.I667T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.T2000C:p.I667T;ENSG00000141384:ENST00000578121:exon10:c.T2015C:p.I672T;	0.00150046723430683	0.01
18	23895360	T	G	18	26315396	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.T2000G:p.I667S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.T2000G:p.I667S;ENSG00000141384:ENST00000578121:exon10:c.T2015G:p.I672S;	0.0067534910757952	0.026
18	23895361	T	A	18	26315397	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon10:c.T2001A:p.I667I;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.T2001A:p.I667I;ENSG00000141384:ENST00000578121:exon10:c.T2016A:p.I672I;	4.10878730124428E-5	0.138
18	23895361	T	C	18	26315397	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon10:c.T2001C:p.I667I;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.T2001C:p.I667I;ENSG00000141384:ENST00000578121:exon10:c.T2016C:p.I672I;	8.1226657962523E-5	0.096
18	23895361	T	G	18	26315397	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.T2001G:p.I667M;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.T2001G:p.I667M;ENSG00000141384:ENST00000578121:exon10:c.T2016G:p.I672M;	1.13898151712057E-4	0.0
18	23895362	G	A	18	26315398	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.G2002A:p.G668S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.G2002A:p.G668S;ENSG00000141384:ENST00000578121:exon10:c.G2017A:p.G673S;	0.999875902612313	0.962
18	23895362	G	C	18	26315398	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.G2002C:p.G668R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.G2002C:p.G668R;ENSG00000141384:ENST00000578121:exon10:c.G2017C:p.G673R;	0.999812950764629	0.794
18	23895362	G	T	18	26315398	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon10:c.G2002T:p.G668C;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon10:c.G2002T:p.G668C;ENSG00000141384:ENST00000578121:exon10:c.G2017T:p.G673C;	0.997947935570262	0.782
18	23895363	G	A	18	26315399	y	y	splicing	TAF4B(NM_005640:exon10:c.2002+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.2002+1G>A;ENST00000578121:exon10:c.2017+1G>A;ENST00000418698:exon11:c.2122+1G>A)	.	.	0.999990361384395	0.938
18	23895363	G	C	18	26315399	y	y	splicing	TAF4B(NM_005640:exon10:c.2002+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.2002+1G>C;ENST00000578121:exon10:c.2017+1G>C;ENST00000418698:exon11:c.2122+1G>C)	.	.	0.999990361384395	0.938
18	23895363	G	T	18	26315399	y	y	splicing	TAF4B(NM_005640:exon10:c.2002+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.2002+1G>T;ENST00000578121:exon10:c.2017+1G>T;ENST00000418698:exon11:c.2122+1G>T)	.	.	0.999990361384395	0.938
18	23895364	T	A	18	26315400	y	y	splicing	TAF4B(NM_005640:exon10:c.2002+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.2002+2T>A;ENST00000578121:exon10:c.2017+2T>A;ENST00000418698:exon11:c.2122+2T>A)	.	.	0.999988247793601	0.932
18	23895364	T	C	18	26315400	y	y	splicing	TAF4B(NM_005640:exon10:c.2002+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.2002+2T>C;ENST00000578121:exon10:c.2017+2T>C;ENST00000418698:exon11:c.2122+2T>C)	.	.	0.995320650369382	0.71
18	23895364	T	G	18	26315400	y	y	splicing	TAF4B(NM_005640:exon10:c.2002+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon10:c.2002+2T>G;ENST00000578121:exon10:c.2017+2T>G;ENST00000418698:exon11:c.2122+2T>G)	.	.	0.999988247793601	0.932
18	23895365	A	C	18	26315401	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.990743977662905	0.776
18	23895365	A	G	18	26315401	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00137634229051903	0.152
18	23895365	A	T	18	26315401	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.877496567109481	0.646
18	23895366	A	C	18	26315402	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.932542980647882	0.626
18	23895366	A	G	18	26315402	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.940555903285261	0.738
18	23895366	A	T	18	26315402	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.986557538557394	0.69
18	23895367	G	A	18	26315403	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999397206277969	0.922
18	23895367	G	C	18	26315403	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999299798659625	0.922
18	23895367	G	T	18	26315403	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999828071019461	0.906
18	23895368	T	A	18	26315404	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.150665931589428	0.39
18	23895368	T	C	18	26315404	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.385516920007357	0.456
18	23895368	T	G	18	26315404	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0176933973633418	0.312
18	23895369	G	A	18	26315405	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.90028566392549E-5	0.0
18	23895369	G	C	18	26315405	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.34303792003554E-5	0.004
18	23895369	G	T	18	26315405	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.21666914623084E-5	0.002
18	23895370	T	A	18	26315406	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.52297880296295E-5	0.002
18	23895370	T	C	18	26315406	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.15941453541388E-5	0.002
18	23895370	T	G	18	26315406	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.68216876595996E-5	0.002
18	23901022	C	A	18	26321058	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.898319718738536	0.67
18	23901022	C	G	18	26321058	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.866770009559069	0.672
18	23901022	C	T	18	26321058	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.93168849336606	0.736
18	23901023	T	A	18	26321059	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999980758881293	0.966
18	23901023	T	C	18	26321059	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.461537240507995	0.342
18	23901023	T	G	18	26321059	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.955354569429143	0.64
18	23901024	G	A	18	26321060	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0216933828367423	0.156
18	23901024	G	C	18	26321060	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0152610534224209	0.186
18	23901024	G	T	18	26321060	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0139014721722857	0.204
18	23901025	C	A	18	26321061	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.918687130964352	0.648
18	23901025	C	G	18	26321061	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.95165032530122	0.662
18	23901025	C	T	18	26321061	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.93168849336606	0.742
18	23901026	T	A	18	26321062	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00856817781809455	0.232
18	23901026	T	C	18	26321062	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00227989675533999	0.014
18	23901026	T	G	18	26321062	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00135704735318805	0.06
18	23901027	T	A	18	26321063	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.04448849564673	0.228
18	23901027	T	C	18	26321063	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00173057024347724	0.03
18	23901027	T	G	18	26321063	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0816188131834163	0.216
18	23901028	C	A	18	26321064	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00112070136842383	0.156
18	23901028	C	G	18	26321064	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.70919436081944E-4	0.076
18	23901028	C	T	18	26321064	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.65086046689857E-5	0.006
18	23901029	T	A	18	26321065	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999241943714228	0.888
18	23901029	T	C	18	26321065	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.15181663318784E-4	0.0
18	23901029	T	G	18	26321065	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00107565187417045	0.152
18	23901030	G	A	18	26321066	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.27414706929022E-4	0.012
18	23901030	G	C	18	26321066	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.66272524995264E-5	0.008
18	23901030	G	T	18	26321066	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.35800258359841E-4	0.018
18	23901031	C	A	18	26321067	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.986648934765888	0.8
18	23901031	C	G	18	26321067	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999844557606753	0.952
18	23901031	C	T	18	26321067	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.080059391610742	0.136
18	23901032	A	C	18	26321068	y	y	splicing	TAF4B(NM_005640:exon11:c.2003-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2003-2A>C;ENST00000578121:exon11:c.2018-2A>C;ENST00000418698:exon12:c.2123-2A>C)	.	.	0.999988247793601	0.928
18	23901032	A	G	18	26321068	y	y	splicing	TAF4B(NM_005640:exon11:c.2003-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2003-2A>G;ENST00000578121:exon11:c.2018-2A>G;ENST00000418698:exon12:c.2123-2A>G)	.	.	0.999988247793601	0.928
18	23901032	A	T	18	26321068	y	y	splicing	TAF4B(NM_005640:exon11:c.2003-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2003-2A>T;ENST00000578121:exon11:c.2018-2A>T;ENST00000418698:exon12:c.2123-2A>T)	.	.	0.999988247793601	0.928
18	23901033	G	A	18	26321069	y	y	splicing	TAF4B(NM_005640:exon11:c.2003-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2003-1G>A;ENST00000578121:exon11:c.2018-1G>A;ENST00000418698:exon12:c.2123-1G>A)	.	.	0.999986675681007	0.93
18	23901033	G	C	18	26321069	y	y	splicing	TAF4B(NM_005640:exon11:c.2003-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2003-1G>C;ENST00000578121:exon11:c.2018-1G>C;ENST00000418698:exon12:c.2123-1G>C)	.	.	0.999986675681007	0.93
18	23901033	G	T	18	26321069	y	y	splicing	TAF4B(NM_005640:exon11:c.2003-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2003-1G>T;ENST00000578121:exon11:c.2018-1G>T;ENST00000418698:exon12:c.2123-1G>T)	.	.	0.999986675681007	0.93
18	23901034	G	A	18	26321070	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.G2003A:p.G668D;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.G2003A:p.G668D;ENSG00000141384:ENST00000578121:exon11:c.G2018A:p.G673D;	0.989465626978486	0.668
18	23901034	G	C	18	26321070	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.G2003C:p.G668A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.G2003C:p.G668A;ENSG00000141384:ENST00000578121:exon11:c.G2018C:p.G673A;	0.995359530818399	0.828
18	23901034	G	T	18	26321070	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.G2003T:p.G668V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.G2003T:p.G668V;ENSG00000141384:ENST00000578121:exon11:c.G2018T:p.G673V;	0.991835276839647	0.868
18	23901035	T	A	18	26321071	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon11:c.T2004A:p.G668G;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.T2004A:p.G668G;ENSG00000141384:ENST00000578121:exon11:c.T2019A:p.G673G;	0.00469438391084619	0.038
18	23901035	T	C	18	26321071	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon11:c.T2004C:p.G668G;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.T2004C:p.G668G;ENSG00000141384:ENST00000578121:exon11:c.T2019C:p.G673G;	0.0104224196753568	0.084
18	23901035	T	G	18	26321071	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon11:c.T2004G:p.G668G;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.T2004G:p.G668G;ENSG00000141384:ENST00000578121:exon11:c.T2019G:p.G673G;	0.0104224196753568	0.076
18	23901162	A	C	18	26321198	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.A2131C:p.K711Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.A2131C:p.K711Q;ENSG00000141384:ENST00000578121:exon11:c.A2146C:p.K716Q;	0.00304429517399495	0.018
18	23901162	A	G	18	26321198	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.A2131G:p.K711E;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.A2131G:p.K711E;ENSG00000141384:ENST00000578121:exon11:c.A2146G:p.K716E;	0.0205473126354869	0.108
18	23901162	A	T	18	26321198	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon11:c.A2131T:p.K711X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon11:c.A2131T:p.K711X;ENSG00000141384:ENST00000578121:exon11:c.A2146T:p.K716X;	0.989351363419346	0.79
18	23901163	A	C	18	26321199	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.A2132C:p.K711T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.A2132C:p.K711T;ENSG00000141384:ENST00000578121:exon11:c.A2147C:p.K716T;	0.556827526729686	0.48
18	23901163	A	G	18	26321199	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.A2132G:p.K711R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.A2132G:p.K711R;ENSG00000141384:ENST00000578121:exon11:c.A2147G:p.K716R;	0.987998705685249	0.71
18	23901163	A	T	18	26321199	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.A2132T:p.K711M;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.A2132T:p.K711M;ENSG00000141384:ENST00000578121:exon11:c.A2147T:p.K716M;	0.974132707020321	0.702
18	23901164	G	A	18	26321200	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon11:c.G2133A:p.K711K;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.G2133A:p.K711K;ENSG00000141384:ENST00000578121:exon11:c.G2148A:p.K716K;	0.99997586676976	0.966
18	23901164	G	C	18	26321200	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.G2133C:p.K711N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.G2133C:p.K711N;ENSG00000141384:ENST00000578121:exon11:c.G2148C:p.K716N;	0.999994308087478	0.962
18	23901164	G	T	18	26321200	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon11:c.G2133T:p.K711N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon11:c.G2133T:p.K711N;ENSG00000141384:ENST00000578121:exon11:c.G2148T:p.K716N;	0.999962407757317	0.924
18	23901165	G	A	18	26321201	y	y	splicing	TAF4B(NM_005640:exon11:c.2133+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2133+1G>A;ENST00000578121:exon11:c.2148+1G>A;ENST00000418698:exon12:c.2253+1G>A)	.	.	0.999986675681007	0.932
18	23901165	G	C	18	26321201	y	y	splicing	TAF4B(NM_005640:exon11:c.2133+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2133+1G>C;ENST00000578121:exon11:c.2148+1G>C;ENST00000418698:exon12:c.2253+1G>C)	.	.	0.999986675681007	0.93
18	23901165	G	T	18	26321201	y	y	splicing	TAF4B(NM_005640:exon11:c.2133+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2133+1G>T;ENST00000578121:exon11:c.2148+1G>T;ENST00000418698:exon12:c.2253+1G>T)	.	.	0.999986675681007	0.93
18	23901166	T	A	18	26321202	y	y	splicing	TAF4B(NM_005640:exon11:c.2133+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2133+2T>A;ENST00000578121:exon11:c.2148+2T>A;ENST00000418698:exon12:c.2253+2T>A)	.	.	0.999988247793601	0.914
18	23901166	T	C	18	26321202	y	y	splicing	TAF4B(NM_005640:exon11:c.2133+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2133+2T>C;ENST00000578121:exon11:c.2148+2T>C;ENST00000418698:exon12:c.2253+2T>C)	.	.	0.991245725732999	0.63
18	23901166	T	G	18	26321202	y	y	splicing	TAF4B(NM_005640:exon11:c.2133+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon11:c.2133+2T>G;ENST00000578121:exon11:c.2148+2T>G;ENST00000418698:exon12:c.2253+2T>G)	.	.	0.999988247793601	0.926
18	23901167	A	C	18	26321203	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999931969552142	0.954
18	23901167	A	G	18	26321203	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.99702499510731	0.812
18	23901167	A	T	18	26321203	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999547314663425	0.938
18	23901168	A	C	18	26321204	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.874517079554957	0.648
18	23901168	A	G	18	26321204	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.972149657048067	0.806
18	23901168	A	T	18	26321204	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.986736208184899	0.736
18	23901169	A	C	18	26321205	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00203503534779665	0.102
18	23901169	A	G	18	26321205	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.85290510246903E-4	0.036
18	23901169	A	T	18	26321205	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0106630490407138	0.156
18	23901170	G	A	18	26321206	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0101970611759967	0.114
18	23901170	G	C	18	26321206	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00900363794916269	0.176
18	23901170	G	T	18	26321206	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00106147893913223	0.004
18	23901171	G	A	18	26321207	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.76857486383056E-4	0.004
18	23901171	G	C	18	26321207	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.30213012539419E-4	0.002
18	23901171	G	T	18	26321207	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.77828905540077E-4	0.024
18	23901172	A	C	18	26321208	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.00787505764898E-5	0.002
18	23901172	A	G	18	26321208	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.33815804894828E-5	0.0
18	23901172	A	T	18	26321208	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.07553965897311E-4	0.002
18	23906967	T	A	18	26327003	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.77694087140943E-4	0.106
18	23906967	T	C	18	26327003	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.31045799740485E-5	0.008
18	23906967	T	G	18	26327003	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.08206828938722E-4	0.116
18	23906968	T	A	18	26327004	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0212926561716005	0.218
18	23906968	T	C	18	26327004	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.017456555960814	0.032
18	23906968	T	G	18	26327004	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0179167451632597	0.18
18	23906969	T	A	18	26327005	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0129724175573567	0.148
18	23906969	T	C	18	26327005	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00352847926930952	0.02
18	23906969	T	G	18	26327005	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00420326657410731	0.12
18	23906970	T	A	18	26327006	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.5722459501413E-4	0.084
18	23906970	T	C	18	26327006	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.09643086412184E-5	0.022
18	23906970	T	G	18	26327006	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.85737977736098E-4	0.086
18	23906971	T	A	18	26327007	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.38603244158901E-4	0.032
18	23906971	T	C	18	26327007	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.8185986829488E-5	0.008
18	23906971	T	G	18	26327007	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.07134992705905E-5	0.028
18	23906972	T	A	18	26327008	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00175437827239531	0.162
18	23906972	T	C	18	26327008	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.19009503276795E-4	0.002
18	23906972	T	G	18	26327008	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.90563453426299E-4	0.046
18	23906973	T	A	18	26327009	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.27290127838381E-4	0.076
18	23906973	T	C	18	26327009	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.96008759698381E-5	0.052
18	23906973	T	G	18	26327009	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.47385104162527E-4	0.148
18	23906974	C	A	18	26327010	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.08129973531628E-4	0.058
18	23906974	C	G	18	26327010	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.50016617010402E-4	0.07
18	23906974	C	T	18	26327010	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.89318990320914E-4	0.022
18	23906975	C	A	18	26327011	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.91322441857876E-5	0.004
18	23906975	C	G	18	26327011	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.37615156297787E-5	0.002
18	23906975	C	T	18	26327011	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.83521031057715E-5	0.004
18	23906976	C	A	18	26327012	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0488561612623624	0.376
18	23906976	C	G	18	26327012	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.992305110434015	0.726
18	23906976	C	T	18	26327012	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00102576836109929	0.138
18	23906977	A	C	18	26327013	y	y	splicing	TAF4B(NM_005640:exon12:c.2134-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2134-2A>C;ENST00000578121:exon12:c.2149-2A>C;ENST00000418698:exon13:c.2254-2A>C)	.	.	0.999988247793601	0.93
18	23906977	A	G	18	26327013	y	y	splicing	TAF4B(NM_005640:exon12:c.2134-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2134-2A>G;ENST00000578121:exon12:c.2149-2A>G;ENST00000418698:exon13:c.2254-2A>G)	.	.	0.999988247793601	0.93
18	23906977	A	T	18	26327013	y	y	splicing	TAF4B(NM_005640:exon12:c.2134-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2134-2A>T;ENST00000578121:exon12:c.2149-2A>T;ENST00000418698:exon13:c.2254-2A>T)	.	.	0.999988247793601	0.93
18	23906978	G	A	18	26327014	y	y	splicing	TAF4B(NM_005640:exon12:c.2134-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2134-1G>A;ENST00000578121:exon12:c.2149-1G>A;ENST00000418698:exon13:c.2254-1G>A)	.	.	0.999990361384395	0.938
18	23906978	G	C	18	26327014	y	y	splicing	TAF4B(NM_005640:exon12:c.2134-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2134-1G>C;ENST00000578121:exon12:c.2149-1G>C;ENST00000418698:exon13:c.2254-1G>C)	.	.	0.999990361384395	0.938
18	23906978	G	T	18	26327014	y	y	splicing	TAF4B(NM_005640:exon12:c.2134-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2134-1G>T;ENST00000578121:exon12:c.2149-1G>T;ENST00000418698:exon13:c.2254-1G>T)	.	.	0.999990361384395	0.938
18	23906979	G	A	18	26327015	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.G2134A:p.A712T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.G2134A:p.A712T;ENSG00000141384:ENST00000578121:exon12:c.G2149A:p.A717T;	0.00254015402820911	0.16
18	23906979	G	C	18	26327015	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.G2134C:p.A712P;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.G2134C:p.A712P;ENSG00000141384:ENST00000578121:exon12:c.G2149C:p.A717P;	0.00837052487716238	0.35
18	23906979	G	T	18	26327015	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.G2134T:p.A712S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.G2134T:p.A712S;ENSG00000141384:ENST00000578121:exon12:c.G2149T:p.A717S;	0.0859411748586868	0.436
18	23906980	C	A	18	26327016	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.C2135A:p.A712E;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.C2135A:p.A712E;ENSG00000141384:ENST00000578121:exon12:c.C2150A:p.A717E;	0.00273466274226754	0.08
18	23906980	C	G	18	26327016	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.C2135G:p.A712G;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.C2135G:p.A712G;ENSG00000141384:ENST00000578121:exon12:c.C2150G:p.A717G;	0.00236541935302702	0.106
18	23906980	C	T	18	26327016	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.C2135T:p.A712V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.C2135T:p.A712V;ENSG00000141384:ENST00000578121:exon12:c.C2150T:p.A717V;	0.00124239720181641	0.072
18	23907102	A	C	18	26327138	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.A2257C:p.K753Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.A2257C:p.K753Q;ENSG00000141384:ENST00000578121:exon12:c.A2272C:p.K758Q;	0.162462152050067	0.376
18	23907102	A	G	18	26327138	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.A2257G:p.K753E;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.A2257G:p.K753E;ENSG00000141384:ENST00000578121:exon12:c.A2272G:p.K758E;	0.554686917978719	0.412
18	23907102	A	T	18	26327138	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon12:c.A2257T:p.K753X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon12:c.A2257T:p.K753X;ENSG00000141384:ENST00000578121:exon12:c.A2272T:p.K758X;	0.97231641424459	0.656
18	23907103	A	C	18	26327139	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.A2258C:p.K753T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.A2258C:p.K753T;ENSG00000141384:ENST00000578121:exon12:c.A2273C:p.K758T;	0.234532758482134	0.516
18	23907103	A	G	18	26327139	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.A2258G:p.K753R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.A2258G:p.K753R;ENSG00000141384:ENST00000578121:exon12:c.A2273G:p.K758R;	0.295687536836888	0.568
18	23907103	A	T	18	26327139	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.A2258T:p.K753M;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.A2258T:p.K753M;ENSG00000141384:ENST00000578121:exon12:c.A2273T:p.K758M;	0.140552015060106	0.418
18	23907104	G	A	18	26327140	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon12:c.G2259A:p.K753K;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.G2259A:p.K753K;ENSG00000141384:ENST00000578121:exon12:c.G2274A:p.K758K;	0.999654832763397	0.95
18	23907104	G	C	18	26327140	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.G2259C:p.K753N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.G2259C:p.K753N;ENSG00000141384:ENST00000578121:exon12:c.G2274C:p.K758N;	0.999883728618479	0.9
18	23907104	G	T	18	26327140	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon12:c.G2259T:p.K753N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon12:c.G2259T:p.K753N;ENSG00000141384:ENST00000578121:exon12:c.G2274T:p.K758N;	0.999734208283235	0.916
18	23907105	G	A	18	26327141	y	y	splicing	TAF4B(NM_005640:exon12:c.2259+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2259+1G>A;ENST00000578121:exon12:c.2274+1G>A;ENST00000418698:exon13:c.2379+1G>A)	.	.	0.999990361384395	0.938
18	23907105	G	C	18	26327141	y	y	splicing	TAF4B(NM_005640:exon12:c.2259+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2259+1G>C;ENST00000578121:exon12:c.2274+1G>C;ENST00000418698:exon13:c.2379+1G>C)	.	.	0.999990361384395	0.938
18	23907105	G	T	18	26327141	y	y	splicing	TAF4B(NM_005640:exon12:c.2259+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2259+1G>T;ENST00000578121:exon12:c.2274+1G>T;ENST00000418698:exon13:c.2379+1G>T)	.	.	0.999990361384395	0.938
18	23907106	T	A	18	26327142	y	y	splicing	TAF4B(NM_005640:exon12:c.2259+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2259+2T>A;ENST00000578121:exon12:c.2274+2T>A;ENST00000418698:exon13:c.2379+2T>A)	.	.	0.999986607513753	0.92
18	23907106	T	C	18	26327142	y	y	splicing	TAF4B(NM_005640:exon12:c.2259+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2259+2T>C;ENST00000578121:exon12:c.2274+2T>C;ENST00000418698:exon13:c.2379+2T>C)	.	.	0.993737977920058	0.586
18	23907106	T	G	18	26327142	y	y	splicing	TAF4B(NM_005640:exon12:c.2259+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon12:c.2259+2T>G;ENST00000578121:exon12:c.2274+2T>G;ENST00000418698:exon13:c.2379+2T>G)	.	.	0.999986607513753	0.92
18	23907107	A	C	18	26327143	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.975853997505372	0.782
18	23907107	A	G	18	26327143	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0188993207985446	0.16
18	23907107	A	T	18	26327143	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.883731606324288	0.664
18	23907108	A	C	18	26327144	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.373474518473126	0.49
18	23907108	A	G	18	26327144	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.73536199326544	0.51
18	23907108	A	T	18	26327144	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.668410874947009	0.554
18	23907109	G	A	18	26327145	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.456849060073807	0.494
18	23907109	G	C	18	26327145	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.239119171345231	0.472
18	23907109	G	T	18	26327145	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.536688754728778	0.466
18	23907110	G	A	18	26327146	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.03666449883024E-5	0.004
18	23907110	G	C	18	26327146	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.90712466165452E-5	0.002
18	23907110	G	T	18	26327146	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.41924977984982E-5	0.002
18	23907111	G	A	18	26327147	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.89358768570465E-4	0.018
18	23907111	G	C	18	26327147	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.44691380130809E-4	0.012
18	23907111	G	T	18	26327147	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.88711186747635E-4	0.004
18	23907112	C	A	18	26327148	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.49003403242113E-4	0.028
18	23907112	C	G	18	26327148	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.58510448684341E-4	0.024
18	23907112	C	T	18	26327148	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.49003403242113E-4	0.026
18	23915127	T	A	18	26335163	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.300285170097198	0.516
18	23915127	T	C	18	26335163	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0329379968298554	0.318
18	23915127	T	G	18	26335163	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.140620103615548	0.45
18	23915128	T	A	18	26335164	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00849959550666022	0.194
18	23915128	T	C	18	26335164	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.90504755826932E-4	0.052
18	23915128	T	G	18	26335164	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0011134500498496	0.138
18	23915129	C	A	18	26335165	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0184467467159508	0.244
18	23915129	C	G	18	26335165	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00841186090108246	0.206
18	23915129	C	T	18	26335165	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.19576722206142E-4	0.092
18	23915130	C	A	18	26335166	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0100681408647665	0.128
18	23915130	C	G	18	26335166	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00179268724544745	0.078
18	23915130	C	T	18	26335166	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.50917923365496E-4	0.02
18	23915131	T	A	18	26335167	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00333461507673089	0.136
18	23915131	T	C	18	26335167	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.59306825521405E-4	0.054
18	23915131	T	G	18	26335167	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00174796913407762	0.132
18	23915132	T	A	18	26335168	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.94851638728542E-4	0.06
18	23915132	T	C	18	26335168	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.1560287836892E-4	0.002
18	23915132	T	G	18	26335168	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.29839795577694E-4	0.064
18	23915133	T	A	18	26335169	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999841812339325	0.984
18	23915133	T	C	18	26335169	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.00645055684579E-4	0.002
18	23915133	T	G	18	26335169	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.51515080321392E-4	0.172
18	23915134	G	A	18	26335170	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.96531442374943E-4	0.014
18	23915134	G	C	18	26335170	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.49193379202042E-5	0.016
18	23915134	G	T	18	26335170	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.07511684307924E-4	0.106
18	23915135	A	C	18	26335171	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.45515839640708E-4	0.002
18	23915135	A	G	18	26335171	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.26385450982857E-4	0.01
18	23915135	A	T	18	26335171	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.69345426347549E-4	0.008
18	23915136	T	A	18	26335172	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0133527433921029	0.242
18	23915136	T	C	18	26335172	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.72492824193351E-5	0.028
18	23915136	T	G	18	26335172	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998329909739904	0.712
18	23915137	A	C	18	26335173	y	y	splicing	TAF4B(NM_005640:exon13:c.2260-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2260-2A>C;ENST00000578121:exon13:c.2275-2A>C;ENST00000418698:exon14:c.2380-2A>C)	.	.	0.99992617752697	0.93
18	23915137	A	G	18	26335173	y	y	splicing	TAF4B(NM_005640:exon13:c.2260-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2260-2A>G;ENST00000578121:exon13:c.2275-2A>G;ENST00000418698:exon14:c.2380-2A>G)	.	.	0.99992617752697	0.93
18	23915137	A	T	18	26335173	y	y	splicing	TAF4B(NM_005640:exon13:c.2260-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2260-2A>T;ENST00000578121:exon13:c.2275-2A>T;ENST00000418698:exon14:c.2380-2A>T)	.	.	0.999939583170295	0.932
18	23915138	G	A	18	26335174	y	y	splicing	TAF4B(NM_005640:exon13:c.2260-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2260-1G>A;ENST00000578121:exon13:c.2275-1G>A;ENST00000418698:exon14:c.2380-1G>A)	.	.	0.999985155273551	0.934
18	23915138	G	C	18	26335174	y	y	splicing	TAF4B(NM_005640:exon13:c.2260-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2260-1G>C;ENST00000578121:exon13:c.2275-1G>C;ENST00000418698:exon14:c.2380-1G>C)	.	.	0.999984637456542	0.93
18	23915138	G	T	18	26335174	y	y	splicing	TAF4B(NM_005640:exon13:c.2260-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2260-1G>T;ENST00000578121:exon13:c.2275-1G>T;ENST00000418698:exon14:c.2380-1G>T)	.	.	0.999985155273551	0.934
18	23915139	A	C	18	26335175	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.A2260C:p.S754R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.A2260C:p.S754R;ENSG00000141384:ENST00000578121:exon13:c.A2275C:p.S759R;	7.10100704761547E-4	0.052
18	23915139	A	G	18	26335175	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.A2260G:p.S754G;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.A2260G:p.S754G;ENSG00000141384:ENST00000578121:exon13:c.A2275G:p.S759G;	5.23676475146669E-4	0.022
18	23915139	A	T	18	26335175	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.A2260T:p.S754C;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.A2260T:p.S754C;ENSG00000141384:ENST00000578121:exon13:c.A2275T:p.S759C;	7.10100704761547E-4	0.046
18	23915140	G	A	18	26335176	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.G2261A:p.S754N;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.G2261A:p.S754N;ENSG00000141384:ENST00000578121:exon13:c.G2276A:p.S759N;	0.00304693167377985	0.05
18	23915140	G	C	18	26335176	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.G2261C:p.S754T;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.G2261C:p.S754T;ENSG00000141384:ENST00000578121:exon13:c.G2276C:p.S759T;	0.00181914816943432	0.044
18	23915140	G	T	18	26335176	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.G2261T:p.S754I;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.G2261T:p.S754I;ENSG00000141384:ENST00000578121:exon13:c.G2276T:p.S759I;	0.00127220676078554	0.05
18	23915193	G	A	18	26335229	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.G2314A:p.E772K;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.G2314A:p.E772K;ENSG00000141384:ENST00000578121:exon13:c.G2329A:p.E777K;	0.00231588329226602	0.024
18	23915193	G	C	18	26335229	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.G2314C:p.E772Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.G2314C:p.E772Q;ENSG00000141384:ENST00000578121:exon13:c.G2329C:p.E777Q;	0.00100552813307746	0.028
18	23915193	G	T	18	26335229	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon13:c.G2314T:p.E772X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon13:c.G2314T:p.E772X;ENSG00000141384:ENST00000578121:exon13:c.G2329T:p.E777X;	0.987775579503155	0.892
18	23915194	A	C	18	26335230	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.A2315C:p.E772A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.A2315C:p.E772A;ENSG00000141384:ENST00000578121:exon13:c.A2330C:p.E777A;	0.565760359626271	0.524
18	23915194	A	G	18	26335230	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.A2315G:p.E772G;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.A2315G:p.E772G;ENSG00000141384:ENST00000578121:exon13:c.A2330G:p.E777G;	0.976609785343623	0.668
18	23915194	A	T	18	26335230	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.A2315T:p.E772V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.A2315T:p.E772V;ENSG00000141384:ENST00000578121:exon13:c.A2330T:p.E777V;	0.983417598685883	0.692
18	23915195	G	A	18	26335231	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon13:c.G2316A:p.E772E;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.G2316A:p.E772E;ENSG00000141384:ENST00000578121:exon13:c.G2331A:p.E777E;	0.999967643181952	0.994
18	23915195	G	C	18	26335231	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.G2316C:p.E772D;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.G2316C:p.E772D;ENSG00000141384:ENST00000578121:exon13:c.G2331C:p.E777D;	0.99999206654557	0.952
18	23915195	G	T	18	26335231	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon13:c.G2316T:p.E772D;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon13:c.G2316T:p.E772D;ENSG00000141384:ENST00000578121:exon13:c.G2331T:p.E777D;	0.999946617471277	0.94
18	23915196	G	A	18	26335232	y	y	splicing	TAF4B(NM_005640:exon13:c.2316+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2316+1G>A;ENST00000578121:exon13:c.2331+1G>A;ENST00000418698:exon14:c.2436+1G>A)	.	.	0.999986675681007	0.92
18	23915196	G	C	18	26335232	y	y	splicing	TAF4B(NM_005640:exon13:c.2316+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2316+1G>C;ENST00000578121:exon13:c.2331+1G>C;ENST00000418698:exon14:c.2436+1G>C)	.	.	0.999986675681007	0.932
18	23915196	G	T	18	26335232	y	y	splicing	TAF4B(NM_005640:exon13:c.2316+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2316+1G>T;ENST00000578121:exon13:c.2331+1G>T;ENST00000418698:exon14:c.2436+1G>T)	.	.	0.999986675681007	0.932
18	23915197	T	A	18	26335233	y	y	splicing	TAF4B(NM_005640:exon13:c.2316+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2316+2T>A;ENST00000578121:exon13:c.2331+2T>A;ENST00000418698:exon14:c.2436+2T>A)	.	.	0.999988247793601	0.924
18	23915197	T	C	18	26335233	y	y	splicing	TAF4B(NM_005640:exon13:c.2316+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2316+2T>C;ENST00000578121:exon13:c.2331+2T>C;ENST00000418698:exon14:c.2436+2T>C)	.	.	0.986973409415639	0.634
18	23915197	T	G	18	26335233	y	y	splicing	TAF4B(NM_005640:exon13:c.2316+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon13:c.2316+2T>G;ENST00000578121:exon13:c.2331+2T>G;ENST00000418698:exon14:c.2436+2T>G)	.	.	0.999988247793601	0.924
18	23915198	A	C	18	26335234	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.993844595153212	0.86
18	23915198	A	G	18	26335234	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.942030515758239	0.626
18	23915198	A	T	18	26335234	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.986406582179094	0.804
18	23915199	G	A	18	26335235	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.30189580523892E-4	0.064
18	23915199	G	C	18	26335235	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.85695601499009E-5	0.012
18	23915199	G	T	18	26335235	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.56929939993497E-5	0.01
18	23915200	G	A	18	26335236	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.99943461507514	0.888
18	23915200	G	C	18	26335236	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999741159740222	0.89
18	23915200	G	T	18	26335236	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999907887225347	0.912
18	23915201	A	C	18	26335237	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	8.86377645092739E-4	0.028
18	23915201	A	G	18	26335237	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.62044338780376E-4	0.004
18	23915201	A	T	18	26335237	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.72987520284537E-4	0.006
18	23915202	C	A	18	26335238	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00255391889031584	0.074
18	23915202	C	G	18	26335238	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00255391889031584	0.072
18	23915202	C	T	18	26335238	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00255391889031584	0.074
18	23915203	T	A	18	26335239	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00259421172185148	0.01
18	23915203	T	C	18	26335239	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00180195777610796	0.014
18	23915203	T	G	18	26335239	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00204057244843182	0.014
18	23937642	T	A	18	26357678	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.19855461978541E-4	0.062
18	23937642	T	C	18	26357678	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.33074203668529E-5	0.008
18	23937642	T	G	18	26357678	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.16708727690253E-4	0.074
18	23937643	C	A	18	26357679	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00196002150818674	0.062
18	23937643	C	G	18	26357679	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.6852823115253E-4	0.028
18	23937643	C	T	18	26357679	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.16082603961528E-5	0.0
18	23937644	C	A	18	26357680	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.957894903558321	0.962
18	23937644	C	G	18	26357680	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.52354711512475E-4	0.018
18	23937644	C	T	18	26357680	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.55955572115086E-5	0.0
18	23937645	G	A	18	26357681	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.08338493862636E-4	0.008
18	23937645	G	C	18	26357681	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.37319548318219E-5	0.0
18	23937645	G	T	18	26357681	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.49928645186824E-5	0.0
18	23937646	T	A	18	26357682	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00243050174682166	0.08
18	23937646	T	C	18	26357682	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.06007337621884E-5	0.022
18	23937646	T	G	18	26357682	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00410477596457177	0.126
18	23937647	C	A	18	26357683	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.6352476055958E-4	0.028
18	23937647	C	G	18	26357683	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.46750305734866E-4	0.042
18	23937647	C	T	18	26357683	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	5.48766008072389E-5	0.024
18	23937648	T	A	18	26357684	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0108322610485797	0.212
18	23937648	T	C	18	26357684	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.34954154269714E-4	0.006
18	23937648	T	G	18	26357684	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0113674528774142	0.22
18	23937649	T	A	18	26357685	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.056492593282899	0.396
18	23937649	T	C	18	26357685	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.02854939699645E-4	0.056
18	23937649	T	G	18	26357685	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0231306468529718	0.296
18	23937650	C	A	18	26357686	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	7.02478457953322E-5	0.024
18	23937650	C	G	18	26357686	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.69161713200331E-4	0.03
18	23937650	C	T	18	26357686	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.30780308426978E-5	0.014
18	23937651	T	A	18	26357687	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0280153009099946	0.292
18	23937651	T	C	18	26357687	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.29429917548189E-5	0.008
18	23937651	T	G	18	26357687	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.993925654336485	0.684
18	23937652	A	C	18	26357688	y	y	splicing	TAF4B(NM_005640:exon14:c.2317-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2317-2A>C;ENST00000578121:exon14:c.2332-2A>C;ENST00000418698:exon15:c.2437-2A>C)	.	.	0.999986903042585	0.928
18	23937652	A	G	18	26357688	y	y	splicing	TAF4B(NM_005640:exon14:c.2317-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2317-2A>G;ENST00000578121:exon14:c.2332-2A>G;ENST00000418698:exon15:c.2437-2A>G)	.	.	0.999986903042585	0.928
18	23937652	A	T	18	26357688	y	y	splicing	TAF4B(NM_005640:exon14:c.2317-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2317-2A>T;ENST00000578121:exon14:c.2332-2A>T;ENST00000418698:exon15:c.2437-2A>T)	.	.	0.999989917668626	0.926
18	23937653	G	A	18	26357689	y	y	splicing	TAF4B(NM_005640:exon14:c.2317-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2317-1G>A;ENST00000578121:exon14:c.2332-1G>A;ENST00000418698:exon15:c.2437-1G>A)	.	.	0.999981760802075	0.932
18	23937653	G	C	18	26357689	y	y	splicing	TAF4B(NM_005640:exon14:c.2317-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2317-1G>C;ENST00000578121:exon14:c.2332-1G>C;ENST00000418698:exon15:c.2437-1G>C)	.	.	0.999981760802075	0.932
18	23937653	G	T	18	26357689	y	y	splicing	TAF4B(NM_005640:exon14:c.2317-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2317-1G>T;ENST00000578121:exon14:c.2332-1G>T;ENST00000418698:exon15:c.2437-1G>T)	.	.	0.999981760802075	0.932
18	23937654	T	A	18	26357690	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.T2317A:p.L773I;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.T2317A:p.L773I;ENSG00000141384:ENST00000578121:exon14:c.T2332A:p.L778I;	2.44751418574772E-4	0.002
18	23937654	T	C	18	26357690	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon14:c.T2317C:p.L773L;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.T2317C:p.L773L;ENSG00000141384:ENST00000578121:exon14:c.T2332C:p.L778L;	1.84016747192552E-4	0.016
18	23937654	T	G	18	26357690	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.T2317G:p.L773V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.T2317G:p.L773V;ENSG00000141384:ENST00000578121:exon14:c.T2332G:p.L778V;	9.40788444458709E-4	0.098
18	23937655	T	A	18	26357691	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon14:c.T2318A:p.L773X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon14:c.T2318A:p.L773X;ENSG00000141384:ENST00000578121:exon14:c.T2333A:p.L778X;	0.210368087311074	0.642
18	23937655	T	C	18	26357691	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.T2318C:p.L773S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.T2318C:p.L773S;ENSG00000141384:ENST00000578121:exon14:c.T2333C:p.L778S;	0.0045211787301173	0.03
18	23937655	T	G	18	26357691	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon14:c.T2318G:p.L773X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon14:c.T2318G:p.L773X;ENSG00000141384:ENST00000578121:exon14:c.T2333G:p.L778X;	0.20083202006088	0.65
18	23937756	G	A	18	26357792	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.G2419A:p.E807K;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.G2419A:p.E807K;ENSG00000141384:ENST00000578121:exon14:c.G2434A:p.E812K;	0.101884310379967	0.38
18	23937756	G	C	18	26357792	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.G2419C:p.E807Q;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.G2419C:p.E807Q;ENSG00000141384:ENST00000578121:exon14:c.G2434C:p.E812Q;	9.16858158070199E-4	0.02
18	23937756	G	T	18	26357792	y	y	exonic	TAF4B	stopgain SNV	TAF4B:NM_005640:exon14:c.G2419T:p.E807X;	exonic	ENSG00000141384	stopgain SNV	ENSG00000141384:ENST00000269142:exon14:c.G2419T:p.E807X;ENSG00000141384:ENST00000578121:exon14:c.G2434T:p.E812X;	0.99386470682205	0.73
18	23937757	A	C	18	26357793	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.A2420C:p.E807A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.A2420C:p.E807A;ENSG00000141384:ENST00000578121:exon14:c.A2435C:p.E812A;	0.994838220951774	0.858
18	23937757	A	G	18	26357793	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.A2420G:p.E807G;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.A2420G:p.E807G;ENSG00000141384:ENST00000578121:exon14:c.A2435G:p.E812G;	0.999605159745835	0.97
18	23937757	A	T	18	26357793	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.A2420T:p.E807V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.A2420T:p.E807V;ENSG00000141384:ENST00000578121:exon14:c.A2435T:p.E812V;	0.999788486527506	0.842
18	23937758	G	A	18	26357794	y	y	exonic	TAF4B	synonymous SNV	TAF4B:NM_005640:exon14:c.G2421A:p.E807E;	exonic	ENSG00000141384	synonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.G2421A:p.E807E;ENSG00000141384:ENST00000578121:exon14:c.G2436A:p.E812E;	0.999989789935014	0.998
18	23937758	G	C	18	26357794	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.G2421C:p.E807D;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.G2421C:p.E807D;ENSG00000141384:ENST00000578121:exon14:c.G2436C:p.E812D;	0.999980519219278	0.996
18	23937758	G	T	18	26357794	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon14:c.G2421T:p.E807D;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon14:c.G2421T:p.E807D;ENSG00000141384:ENST00000578121:exon14:c.G2436T:p.E812D;	0.999962365537477	1.0
18	23937759	G	A	18	26357795	y	y	splicing	TAF4B(NM_005640:exon14:c.2421+1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2421+1G>A;ENST00000578121:exon14:c.2436+1G>A;ENST00000418698:exon15:c.2541+1G>A)	.	.	0.999979422316293	0.95
18	23937759	G	C	18	26357795	y	y	splicing	TAF4B(NM_005640:exon14:c.2421+1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2421+1G>C;ENST00000578121:exon14:c.2436+1G>C;ENST00000418698:exon15:c.2541+1G>C)	.	.	0.999979422316293	0.95
18	23937759	G	T	18	26357795	y	y	splicing	TAF4B(NM_005640:exon14:c.2421+1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2421+1G>T;ENST00000578121:exon14:c.2436+1G>T;ENST00000418698:exon15:c.2541+1G>T)	.	.	0.999979422316293	0.95
18	23937760	T	A	18	26357796	y	y	splicing	TAF4B(NM_005640:exon14:c.2421+2T>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2421+2T>A;ENST00000578121:exon14:c.2436+2T>A;ENST00000418698:exon15:c.2541+2T>A)	.	.	0.999988624979899	0.944
18	23937760	T	C	18	26357796	y	y	splicing	TAF4B(NM_005640:exon14:c.2421+2T>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2421+2T>C;ENST00000578121:exon14:c.2436+2T>C;ENST00000418698:exon15:c.2541+2T>C)	.	.	0.993011608212398	0.622
18	23937760	T	G	18	26357796	y	y	splicing	TAF4B(NM_005640:exon14:c.2421+2T>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon14:c.2421+2T>G;ENST00000578121:exon14:c.2436+2T>G;ENST00000418698:exon15:c.2541+2T>G)	.	.	0.999988624979899	0.942
18	23937761	A	C	18	26357797	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999956204276913	0.992
18	23937761	A	G	18	26357797	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999879123785093	0.984
18	23937761	A	T	18	26357797	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999951208603949	0.996
18	23937762	T	A	18	26357798	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.69389672620843E-4	0.04
18	23937762	T	C	18	26357798	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00113529900081142	0.14
18	23937762	T	G	18	26357798	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.033191298964983	0.092
18	23937763	T	A	18	26357799	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00203618341442394	0.026
18	23937763	T	C	18	26357799	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00201576111192659	0.062
18	23937763	T	G	18	26357799	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.86308037205709E-4	0.074
18	23937764	G	A	18	26357800	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.34435275090721E-4	0.122
18	23937764	G	C	18	26357800	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	2.04294948529485E-4	0.114
18	23937764	G	T	18	26357800	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.16302159892557E-5	0.076
18	23937765	A	C	18	26357801	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0126973793349249	0.04
18	23937765	A	G	18	26357801	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0070642836770167	0.04
18	23937765	A	T	18	26357801	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.0169885827054382	0.042
18	23937766	A	C	18	26357802	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.66264480584895E-4	0.006
18	23937766	A	G	18	26357802	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.66264480584895E-4	0.022
18	23937766	A	T	18	26357802	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.69036855081854E-4	0.022
18	23969797	T	A	18	26389833	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.134077918999131	0.392
18	23969797	T	C	18	26389833	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00204530674031211	0.03
18	23969797	T	G	18	26389833	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.114369391695483	0.338
18	23969798	A	C	18	26389834	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.87293534147837E-5	0.002
18	23969798	A	G	18	26389834	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.87293534147837E-5	0.002
18	23969798	A	T	18	26389834	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	9.00433688710836E-5	0.08
18	23969799	T	A	18	26389835	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00764345953871648	0.194
18	23969799	T	C	18	26389835	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.45420011423787E-4	0.012
18	23969799	T	G	18	26389835	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.997893966751912	0.926
18	23969800	T	A	18	26389836	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00939361092485135	0.264
18	23969800	T	C	18	26389836	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.73891541041913E-4	0.004
18	23969800	T	G	18	26389836	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00898396749510075	0.31
18	23969801	A	C	18	26389837	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.71036559913758E-5	0.006
18	23969801	A	G	18	26389837	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	6.19399248715893E-5	0.022
18	23969801	A	T	18	26389837	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.76128729689415E-5	0.002
18	23969802	T	A	18	26389838	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00107980539794796	0.064
18	23969802	T	C	18	26389838	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.76290786757058E-5	0.0
18	23969802	T	G	18	26389838	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.999191965352099	0.992
18	23969803	T	A	18	26389839	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00740216328704207	0.1
18	23969803	T	C	18	26389839	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.86057077982389E-5	0.004
18	23969803	T	G	18	26389839	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00925448726341276	0.1
18	23969804	T	A	18	26389840	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.584047599374774	0.546
18	23969804	T	C	18	26389840	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.00321009815481429	0.034
18	23969804	T	G	18	26389840	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.818001559549769	0.612
18	23969805	T	A	18	26389841	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	3.42264860118098E-4	0.03
18	23969805	T	C	18	26389841	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.98913519832849E-4	0.008
18	23969805	T	G	18	26389841	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	4.78311663059776E-4	0.036
18	23969806	T	A	18	26389842	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.033894417763711	0.294
18	23969806	T	C	18	26389842	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	1.22673772390621E-4	0.01
18	23969806	T	G	18	26389842	y	y	intronic	TAF4B	.	.	intronic	ENSG00000141384	.	.	0.998816614488121	0.738
18	23969807	A	C	18	26389843	y	y	splicing	TAF4B(NM_005640:exon15:c.2422-2A>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon15:c.2422-2A>C;ENST00000578121:exon15:c.2437-2A>C;ENST00000418698:exon16:c.2542-2A>C)	.	.	0.999989917668626	0.926
18	23969807	A	G	18	26389843	y	y	splicing	TAF4B(NM_005640:exon15:c.2422-2A>G)	.	.	splicing	ENSG00000141384(ENST00000269142:exon15:c.2422-2A>G;ENST00000578121:exon15:c.2437-2A>G;ENST00000418698:exon16:c.2542-2A>G)	.	.	0.999989917668626	0.926
18	23969807	A	T	18	26389843	y	y	splicing	TAF4B(NM_005640:exon15:c.2422-2A>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon15:c.2422-2A>T;ENST00000578121:exon15:c.2437-2A>T;ENST00000418698:exon16:c.2542-2A>T)	.	.	0.999989917668626	0.926
18	23969808	G	A	18	26389844	y	y	splicing	TAF4B(NM_005640:exon15:c.2422-1G>A)	.	.	splicing	ENSG00000141384(ENST00000269142:exon15:c.2422-1G>A;ENST00000578121:exon15:c.2437-1G>A;ENST00000418698:exon16:c.2542-1G>A)	.	.	0.999985532734767	0.934
18	23969808	G	C	18	26389844	y	y	splicing	TAF4B(NM_005640:exon15:c.2422-1G>C)	.	.	splicing	ENSG00000141384(ENST00000269142:exon15:c.2422-1G>C;ENST00000578121:exon15:c.2437-1G>C;ENST00000418698:exon16:c.2542-1G>C)	.	.	0.999985532734767	0.934
18	23969808	G	T	18	26389844	y	y	splicing	TAF4B(NM_005640:exon15:c.2422-1G>T)	.	.	splicing	ENSG00000141384(ENST00000269142:exon15:c.2422-1G>T;ENST00000578121:exon15:c.2437-1G>T;ENST00000418698:exon16:c.2542-1G>T)	.	.	0.999985532734767	0.934
18	23969809	G	A	18	26389845	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon15:c.G2422A:p.G808S;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon15:c.G2422A:p.G808S;ENSG00000141384:ENST00000578121:exon15:c.G2437A:p.G813S;	0.00572928740964366	0.212
18	23969809	G	C	18	26389845	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon15:c.G2422C:p.G808R;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon15:c.G2422C:p.G808R;ENSG00000141384:ENST00000578121:exon15:c.G2437C:p.G813R;	0.0356937513162891	0.328
18	23969809	G	T	18	26389845	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon15:c.G2422T:p.G808C;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon15:c.G2422T:p.G808C;ENSG00000141384:ENST00000578121:exon15:c.G2437T:p.G813C;	0.179632419208605	0.486
18	23969810	G	A	18	26389846	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon15:c.G2423A:p.G808D;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon15:c.G2423A:p.G808D;ENSG00000141384:ENST00000578121:exon15:c.G2438A:p.G813D;	0.0304833320861391	0.23
18	23969810	G	C	18	26389846	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon15:c.G2423C:p.G808A;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon15:c.G2423C:p.G808A;ENSG00000141384:ENST00000578121:exon15:c.G2438C:p.G813A;	0.0278231925969586	0.102
18	23969810	G	T	18	26389846	y	y	exonic	TAF4B	nonsynonymous SNV	TAF4B:NM_005640:exon15:c.G2423T:p.G808V;	exonic	ENSG00000141384	nonsynonymous SNV	ENSG00000141384:ENST00000269142:exon15:c.G2423T:p.G808V;ENSG00000141384:ENST00000578121:exon15:c.G2438T:p.G813V;	0.00409638149895019	0.048
18	24035864	A	C	18	26455900	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon5:c.T617G:p.V206G;KCTD1:NM_198991:exon6:c.T617G:p.V206G;KCTD1:NM_001142730:exon5:c.T2441G:p.V814G;KCTD1:NM_001258222:exon5:c.T641G:p.V214G;KCTD1:NM_001136205:exon5:c.T617G:p.V206G;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon5:c.T617G:p.V206G;ENSG00000134504:ENST00000579973:exon6:c.T617G:p.V206G;ENSG00000134504:ENST00000317932:exon5:c.T617G:p.V206G;ENSG00000134504:ENST00000417602:exon5:c.T2441G:p.V814G;ENSG00000134504:ENST00000580191:exon5:c.T641G:p.V214G;ENSG00000134504:ENST00000580638:exon5:c.T617G:p.V206G;ENSG00000134504:ENST00000580059:exon5:c.T617G:p.V206G;	0.406856148840438	0.468
18	24035864	A	G	18	26455900	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon5:c.T617C:p.V206A;KCTD1:NM_198991:exon6:c.T617C:p.V206A;KCTD1:NM_001142730:exon5:c.T2441C:p.V814A;KCTD1:NM_001258222:exon5:c.T641C:p.V214A;KCTD1:NM_001136205:exon5:c.T617C:p.V206A;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon5:c.T617C:p.V206A;ENSG00000134504:ENST00000579973:exon6:c.T617C:p.V206A;ENSG00000134504:ENST00000317932:exon5:c.T617C:p.V206A;ENSG00000134504:ENST00000417602:exon5:c.T2441C:p.V814A;ENSG00000134504:ENST00000580191:exon5:c.T641C:p.V214A;ENSG00000134504:ENST00000580638:exon5:c.T617C:p.V206A;ENSG00000134504:ENST00000580059:exon5:c.T617C:p.V206A;	0.00488972440629506	0.048
18	24035864	A	T	18	26455900	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon5:c.T617A:p.V206D;KCTD1:NM_198991:exon6:c.T617A:p.V206D;KCTD1:NM_001142730:exon5:c.T2441A:p.V814D;KCTD1:NM_001258222:exon5:c.T641A:p.V214D;KCTD1:NM_001136205:exon5:c.T617A:p.V206D;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon5:c.T617A:p.V206D;ENSG00000134504:ENST00000579973:exon6:c.T617A:p.V206D;ENSG00000134504:ENST00000317932:exon5:c.T617A:p.V206D;ENSG00000134504:ENST00000417602:exon5:c.T2441A:p.V814D;ENSG00000134504:ENST00000580191:exon5:c.T641A:p.V214D;ENSG00000134504:ENST00000580638:exon5:c.T617A:p.V206D;ENSG00000134504:ENST00000580059:exon5:c.T617A:p.V206D;	0.446887839929591	0.482
18	24035865	C	A	18	26455901	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon5:c.G616T:p.V206F;KCTD1:NM_198991:exon6:c.G616T:p.V206F;KCTD1:NM_001142730:exon5:c.G2440T:p.V814F;KCTD1:NM_001258222:exon5:c.G640T:p.V214F;KCTD1:NM_001136205:exon5:c.G616T:p.V206F;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon5:c.G616T:p.V206F;ENSG00000134504:ENST00000579973:exon6:c.G616T:p.V206F;ENSG00000134504:ENST00000317932:exon5:c.G616T:p.V206F;ENSG00000134504:ENST00000417602:exon5:c.G2440T:p.V814F;ENSG00000134504:ENST00000580191:exon5:c.G640T:p.V214F;ENSG00000134504:ENST00000580638:exon5:c.G616T:p.V206F;ENSG00000134504:ENST00000580059:exon5:c.G616T:p.V206F;	0.99955695471088	0.892
18	24035865	C	G	18	26455901	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon5:c.G616C:p.V206L;KCTD1:NM_198991:exon6:c.G616C:p.V206L;KCTD1:NM_001142730:exon5:c.G2440C:p.V814L;KCTD1:NM_001258222:exon5:c.G640C:p.V214L;KCTD1:NM_001136205:exon5:c.G616C:p.V206L;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon5:c.G616C:p.V206L;ENSG00000134504:ENST00000579973:exon6:c.G616C:p.V206L;ENSG00000134504:ENST00000317932:exon5:c.G616C:p.V206L;ENSG00000134504:ENST00000417602:exon5:c.G2440C:p.V814L;ENSG00000134504:ENST00000580191:exon5:c.G640C:p.V214L;ENSG00000134504:ENST00000580638:exon5:c.G616C:p.V206L;ENSG00000134504:ENST00000580059:exon5:c.G616C:p.V206L;	0.999209828400456	0.894
18	24035865	C	T	18	26455901	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon5:c.G616A:p.V206I;KCTD1:NM_198991:exon6:c.G616A:p.V206I;KCTD1:NM_001142730:exon5:c.G2440A:p.V814I;KCTD1:NM_001258222:exon5:c.G640A:p.V214I;KCTD1:NM_001136205:exon5:c.G616A:p.V206I;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon5:c.G616A:p.V206I;ENSG00000134504:ENST00000579973:exon6:c.G616A:p.V206I;ENSG00000134504:ENST00000317932:exon5:c.G616A:p.V206I;ENSG00000134504:ENST00000417602:exon5:c.G2440A:p.V814I;ENSG00000134504:ENST00000580191:exon5:c.G640A:p.V214I;ENSG00000134504:ENST00000580638:exon5:c.G616A:p.V206I;ENSG00000134504:ENST00000580059:exon5:c.G616A:p.V206I;	0.997192169764191	0.806
18	24035866	C	A	18	26455902	y	y	splicing	KCTD1(NM_001136205:exon6:c.616-1G>T;NM_001142730:exon6:c.2440-1G>T;NM_001258221:exon6:c.616-1G>T;NM_198991:exon7:c.616-1G>T;NM_001258222:exon6:c.640-1G>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon7:c.616-1G>T;ENST00000317932:exon6:c.616-1G>T;ENST00000417602:exon6:c.2440-1G>T;ENST00000408011:exon6:c.616-1G>T;ENST00000580059:exon6:c.616-1G>T;ENST00000580191:exon6:c.640-1G>T;ENST00000580638:exon6:c.616-1G>T)	.	.	0.999989072007339	0.934
18	24035866	C	G	18	26455902	y	y	splicing	KCTD1(NM_001136205:exon6:c.616-1G>C;NM_001142730:exon6:c.2440-1G>C;NM_001258221:exon6:c.616-1G>C;NM_198991:exon7:c.616-1G>C;NM_001258222:exon6:c.640-1G>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon7:c.616-1G>C;ENST00000317932:exon6:c.616-1G>C;ENST00000417602:exon6:c.2440-1G>C;ENST00000408011:exon6:c.616-1G>C;ENST00000580059:exon6:c.616-1G>C;ENST00000580191:exon6:c.640-1G>C;ENST00000580638:exon6:c.616-1G>C)	.	.	0.999989072007339	0.934
18	24035866	C	T	18	26455902	y	y	splicing	KCTD1(NM_001136205:exon6:c.616-1G>A;NM_001142730:exon6:c.2440-1G>A;NM_001258221:exon6:c.616-1G>A;NM_198991:exon7:c.616-1G>A;NM_001258222:exon6:c.640-1G>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon7:c.616-1G>A;ENST00000317932:exon6:c.616-1G>A;ENST00000417602:exon6:c.2440-1G>A;ENST00000408011:exon6:c.616-1G>A;ENST00000580059:exon6:c.616-1G>A;ENST00000580191:exon6:c.640-1G>A;ENST00000580638:exon6:c.616-1G>A)	.	.	0.999989072007339	0.934
18	24035867	T	A	18	26455903	y	y	splicing	KCTD1(NM_001136205:exon6:c.616-2A>T;NM_001142730:exon6:c.2440-2A>T;NM_001258221:exon6:c.616-2A>T;NM_198991:exon7:c.616-2A>T;NM_001258222:exon6:c.640-2A>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon7:c.616-2A>T;ENST00000317932:exon6:c.616-2A>T;ENST00000417602:exon6:c.2440-2A>T;ENST00000408011:exon6:c.616-2A>T;ENST00000580059:exon6:c.616-2A>T;ENST00000580191:exon6:c.640-2A>T;ENST00000580638:exon6:c.616-2A>T)	.	.	0.999988247793601	0.928
18	24035867	T	C	18	26455903	y	y	splicing	KCTD1(NM_001136205:exon6:c.616-2A>G;NM_001142730:exon6:c.2440-2A>G;NM_001258221:exon6:c.616-2A>G;NM_198991:exon7:c.616-2A>G;NM_001258222:exon6:c.640-2A>G)	.	.	splicing	ENSG00000134504(ENST00000579973:exon7:c.616-2A>G;ENST00000317932:exon6:c.616-2A>G;ENST00000417602:exon6:c.2440-2A>G;ENST00000408011:exon6:c.616-2A>G;ENST00000580059:exon6:c.616-2A>G;ENST00000580191:exon6:c.640-2A>G;ENST00000580638:exon6:c.616-2A>G)	.	.	0.999978952611685	0.93
18	24035867	T	G	18	26455903	y	y	splicing	KCTD1(NM_001136205:exon6:c.616-2A>C;NM_001142730:exon6:c.2440-2A>C;NM_001258221:exon6:c.616-2A>C;NM_198991:exon7:c.616-2A>C;NM_001258222:exon6:c.640-2A>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon7:c.616-2A>C;ENST00000317932:exon6:c.616-2A>C;ENST00000417602:exon6:c.2440-2A>C;ENST00000408011:exon6:c.616-2A>C;ENST00000580059:exon6:c.616-2A>C;ENST00000580191:exon6:c.640-2A>C;ENST00000580638:exon6:c.616-2A>C)	.	.	0.999978952611685	0.93
18	24035868	G	A	18	26455904	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00819323146178486	0.258
18	24035868	G	C	18	26455904	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.99969460718856	0.932
18	24035868	G	T	18	26455904	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.308262838487682	0.446
18	24035869	C	A	18	26455905	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.535353444044E-5	0.09
18	24035869	C	G	18	26455905	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.30216990090082E-4	0.368
18	24035869	C	T	18	26455905	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.18106035566348E-5	0.072
18	24035870	G	A	18	26455906	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.80641636170265E-5	0.06
18	24035870	G	C	18	26455906	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	8.45652933780922E-5	0.022
18	24035870	G	T	18	26455906	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.393922574487236	0.394
18	24035871	A	C	18	26455907	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.80044183258709E-5	0.06
18	24035871	A	G	18	26455907	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.54961230744144E-5	0.018
18	24035871	A	T	18	26455907	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.98365608800928E-5	0.042
18	24035872	G	A	18	26455908	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.90516161038329E-5	0.064
18	24035872	G	C	18	26455908	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.21232562127642E-5	0.072
18	24035872	G	T	18	26455908	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.09173881643667E-5	0.094
18	24035873	G	A	18	26455909	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.53351079437111E-5	0.038
18	24035873	G	C	18	26455909	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.36158169905224E-5	0.014
18	24035873	G	T	18	26455909	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.42442604220644E-4	0.03
18	24035874	G	A	18	26455910	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.38612093927266E-5	0.028
18	24035874	G	C	18	26455910	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.60276222588698E-5	0.036
18	24035874	G	T	18	26455910	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.35504577918187E-5	0.056
18	24035875	A	C	18	26455911	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.96483574989984E-5	0.024
18	24035875	A	G	18	26455911	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.096432265133E-5	0.002
18	24035875	A	T	18	26455911	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.67061789882097E-4	0.134
18	24035876	A	C	18	26455912	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.21631584137192E-4	0.04
18	24035876	A	G	18	26455912	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.68858344132526E-5	0.006
18	24035876	A	T	18	26455912	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.68086338941779E-4	0.184
18	24035877	C	A	18	26455913	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.56638608669412E-5	0.026
18	24035877	C	G	18	26455913	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.97834164092237E-5	0.036
18	24035877	C	T	18	26455913	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.07869139675635E-5	0.056
18	24039576	T	A	18	26459612	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.3846765516432E-5	0.0
18	24039576	T	C	18	26459612	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.33316061012953E-5	0.0
18	24039576	T	G	18	26459612	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.89441436649338E-5	0.0
18	24039577	G	A	18	26459613	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.97754353840953E-4	0.01
18	24039577	G	C	18	26459613	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.17189713989271E-5	0.004
18	24039577	G	T	18	26459613	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.0832732595903E-5	0.006
18	24039578	C	A	18	26459614	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.02888931836041E-4	0.06
18	24039578	C	G	18	26459614	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00199752151190969	0.194
18	24039578	C	T	18	26459614	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0034142772744449	0.248
18	24039579	T	A	18	26459615	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.77708305492838E-4	0.004
18	24039579	T	C	18	26459615	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.00328156906875E-5	0.004
18	24039579	T	G	18	26459615	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.92839938482907E-4	0.022
18	24039580	A	C	18	26459616	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.05076686559864E-4	0.046
18	24039580	A	G	18	26459616	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.22960212406197E-5	0.002
18	24039580	A	T	18	26459616	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.20739699162499E-5	0.008
18	24039581	T	A	18	26459617	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999945590344943	0.88
18	24039581	T	C	18	26459617	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999752966284462	0.982
18	24039581	T	G	18	26459617	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999939287171337	0.962
18	24039582	A	C	18	26459618	y	y	splicing	KCTD1(NM_001136205:exon5:c.615+2T>G;NM_001142730:exon5:c.2439+2T>G;NM_001258221:exon5:c.615+2T>G;NM_198991:exon6:c.615+2T>G;NM_001258222:exon5:c.639+2T>G)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.615+2T>G;ENST00000317932:exon5:c.615+2T>G;ENST00000417602:exon5:c.2439+2T>G;ENST00000408011:exon5:c.615+2T>G;ENST00000580059:exon5:c.615+2T>G;ENST00000580191:exon5:c.639+2T>G;ENST00000580638:exon5:c.615+2T>G)	.	.	0.999989917668626	0.916
18	24039582	A	G	18	26459618	y	y	splicing	KCTD1(NM_001136205:exon5:c.615+2T>C;NM_001142730:exon5:c.2439+2T>C;NM_001258221:exon5:c.615+2T>C;NM_198991:exon6:c.615+2T>C;NM_001258222:exon5:c.639+2T>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.615+2T>C;ENST00000317932:exon5:c.615+2T>C;ENST00000417602:exon5:c.2439+2T>C;ENST00000408011:exon5:c.615+2T>C;ENST00000580059:exon5:c.615+2T>C;ENST00000580191:exon5:c.639+2T>C;ENST00000580638:exon5:c.615+2T>C)	.	.	0.992323021482646	0.636
18	24039582	A	T	18	26459618	y	y	splicing	KCTD1(NM_001136205:exon5:c.615+2T>A;NM_001142730:exon5:c.2439+2T>A;NM_001258221:exon5:c.615+2T>A;NM_198991:exon6:c.615+2T>A;NM_001258222:exon5:c.639+2T>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.615+2T>A;ENST00000317932:exon5:c.615+2T>A;ENST00000417602:exon5:c.2439+2T>A;ENST00000408011:exon5:c.615+2T>A;ENST00000580059:exon5:c.615+2T>A;ENST00000580191:exon5:c.639+2T>A;ENST00000580638:exon5:c.615+2T>A)	.	.	0.999989917668626	0.918
18	24039583	C	A	18	26459619	y	y	splicing	KCTD1(NM_001136205:exon5:c.615+1G>T;NM_001142730:exon5:c.2439+1G>T;NM_001258221:exon5:c.615+1G>T;NM_198991:exon6:c.615+1G>T;NM_001258222:exon5:c.639+1G>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.615+1G>T;ENST00000317932:exon5:c.615+1G>T;ENST00000417602:exon5:c.2439+1G>T;ENST00000408011:exon5:c.615+1G>T;ENST00000580059:exon5:c.615+1G>T;ENST00000580191:exon5:c.639+1G>T;ENST00000580638:exon5:c.615+1G>T)	.	.	0.999981760802075	0.938
18	24039583	C	G	18	26459619	y	y	splicing	KCTD1(NM_001136205:exon5:c.615+1G>C;NM_001142730:exon5:c.2439+1G>C;NM_001258221:exon5:c.615+1G>C;NM_198991:exon6:c.615+1G>C;NM_001258222:exon5:c.639+1G>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.615+1G>C;ENST00000317932:exon5:c.615+1G>C;ENST00000417602:exon5:c.2439+1G>C;ENST00000408011:exon5:c.615+1G>C;ENST00000580059:exon5:c.615+1G>C;ENST00000580191:exon5:c.639+1G>C;ENST00000580638:exon5:c.615+1G>C)	.	.	0.999981760802075	0.938
18	24039583	C	T	18	26459619	y	y	splicing	KCTD1(NM_001136205:exon5:c.615+1G>A;NM_001142730:exon5:c.2439+1G>A;NM_001258221:exon5:c.615+1G>A;NM_198991:exon6:c.615+1G>A;NM_001258222:exon5:c.639+1G>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.615+1G>A;ENST00000317932:exon5:c.615+1G>A;ENST00000417602:exon5:c.2439+1G>A;ENST00000408011:exon5:c.615+1G>A;ENST00000580059:exon5:c.615+1G>A;ENST00000580191:exon5:c.639+1G>A;ENST00000580638:exon5:c.615+1G>A)	.	.	0.999981760802075	0.938
18	24039584	C	A	18	26459620	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.G615T:p.Q205H;KCTD1:NM_198991:exon5:c.G615T:p.Q205H;KCTD1:NM_001142730:exon4:c.G2439T:p.Q813H;KCTD1:NM_001258222:exon4:c.G639T:p.Q213H;KCTD1:NM_001136205:exon4:c.G615T:p.Q205H;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.G615T:p.Q205H;ENSG00000134504:ENST00000579973:exon5:c.G615T:p.Q205H;ENSG00000134504:ENST00000317932:exon4:c.G615T:p.Q205H;ENSG00000134504:ENST00000417602:exon4:c.G2439T:p.Q813H;ENSG00000134504:ENST00000580191:exon4:c.G639T:p.Q213H;ENSG00000134504:ENST00000580638:exon4:c.G615T:p.Q205H;ENSG00000134504:ENST00000580059:exon4:c.G615T:p.Q205H;	0.999989845216487	0.936
18	24039584	C	G	18	26459620	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.G615C:p.Q205H;KCTD1:NM_198991:exon5:c.G615C:p.Q205H;KCTD1:NM_001142730:exon4:c.G2439C:p.Q813H;KCTD1:NM_001258222:exon4:c.G639C:p.Q213H;KCTD1:NM_001136205:exon4:c.G615C:p.Q205H;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.G615C:p.Q205H;ENSG00000134504:ENST00000579973:exon5:c.G615C:p.Q205H;ENSG00000134504:ENST00000317932:exon4:c.G615C:p.Q205H;ENSG00000134504:ENST00000417602:exon4:c.G2439C:p.Q813H;ENSG00000134504:ENST00000580191:exon4:c.G639C:p.Q213H;ENSG00000134504:ENST00000580638:exon4:c.G615C:p.Q205H;ENSG00000134504:ENST00000580059:exon4:c.G615C:p.Q205H;	0.99999675263713	1.0
18	24039584	C	T	18	26459620	y	y	exonic	KCTD1	synonymous SNV	KCTD1:NM_001258221:exon4:c.G615A:p.Q205Q;KCTD1:NM_198991:exon5:c.G615A:p.Q205Q;KCTD1:NM_001142730:exon4:c.G2439A:p.Q813Q;KCTD1:NM_001258222:exon4:c.G639A:p.Q213Q;KCTD1:NM_001136205:exon4:c.G615A:p.Q205Q;	exonic	ENSG00000134504	synonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.G615A:p.Q205Q;ENSG00000134504:ENST00000579973:exon5:c.G615A:p.Q205Q;ENSG00000134504:ENST00000317932:exon4:c.G615A:p.Q205Q;ENSG00000134504:ENST00000417602:exon4:c.G2439A:p.Q813Q;ENSG00000134504:ENST00000580191:exon4:c.G639A:p.Q213Q;ENSG00000134504:ENST00000580638:exon4:c.G615A:p.Q205Q;ENSG00000134504:ENST00000580059:exon4:c.G615A:p.Q205Q;	0.999957967460598	1.0
18	24039585	T	A	18	26459621	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.A614T:p.Q205L;KCTD1:NM_198991:exon5:c.A614T:p.Q205L;KCTD1:NM_001142730:exon4:c.A2438T:p.Q813L;KCTD1:NM_001258222:exon4:c.A638T:p.Q213L;KCTD1:NM_001136205:exon4:c.A614T:p.Q205L;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.A614T:p.Q205L;ENSG00000134504:ENST00000579973:exon5:c.A614T:p.Q205L;ENSG00000134504:ENST00000317932:exon4:c.A614T:p.Q205L;ENSG00000134504:ENST00000417602:exon4:c.A2438T:p.Q813L;ENSG00000134504:ENST00000580191:exon4:c.A638T:p.Q213L;ENSG00000134504:ENST00000580638:exon4:c.A614T:p.Q205L;ENSG00000134504:ENST00000580059:exon4:c.A614T:p.Q205L;	0.999966735503122	0.998
18	24039585	T	C	18	26459621	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.A614G:p.Q205R;KCTD1:NM_198991:exon5:c.A614G:p.Q205R;KCTD1:NM_001142730:exon4:c.A2438G:p.Q813R;KCTD1:NM_001258222:exon4:c.A638G:p.Q213R;KCTD1:NM_001136205:exon4:c.A614G:p.Q205R;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.A614G:p.Q205R;ENSG00000134504:ENST00000579973:exon5:c.A614G:p.Q205R;ENSG00000134504:ENST00000317932:exon4:c.A614G:p.Q205R;ENSG00000134504:ENST00000417602:exon4:c.A2438G:p.Q813R;ENSG00000134504:ENST00000580191:exon4:c.A638G:p.Q213R;ENSG00000134504:ENST00000580638:exon4:c.A614G:p.Q205R;ENSG00000134504:ENST00000580059:exon4:c.A614G:p.Q205R;	0.999911202083228	0.998
18	24039585	T	G	18	26459621	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.A614C:p.Q205P;KCTD1:NM_198991:exon5:c.A614C:p.Q205P;KCTD1:NM_001142730:exon4:c.A2438C:p.Q813P;KCTD1:NM_001258222:exon4:c.A638C:p.Q213P;KCTD1:NM_001136205:exon4:c.A614C:p.Q205P;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.A614C:p.Q205P;ENSG00000134504:ENST00000579973:exon5:c.A614C:p.Q205P;ENSG00000134504:ENST00000317932:exon4:c.A614C:p.Q205P;ENSG00000134504:ENST00000417602:exon4:c.A2438C:p.Q813P;ENSG00000134504:ENST00000580191:exon4:c.A638C:p.Q213P;ENSG00000134504:ENST00000580638:exon4:c.A614C:p.Q205P;ENSG00000134504:ENST00000580059:exon4:c.A614C:p.Q205P;	0.999911401846994	0.998
18	24039586	G	A	18	26459622	y	y	exonic	KCTD1	stopgain SNV	KCTD1:NM_001258221:exon4:c.C613T:p.Q205X;KCTD1:NM_198991:exon5:c.C613T:p.Q205X;KCTD1:NM_001142730:exon4:c.C2437T:p.Q813X;KCTD1:NM_001258222:exon4:c.C637T:p.Q213X;KCTD1:NM_001136205:exon4:c.C613T:p.Q205X;	exonic	ENSG00000134504	stopgain SNV	ENSG00000134504:ENST00000408011:exon4:c.C613T:p.Q205X;ENSG00000134504:ENST00000579973:exon5:c.C613T:p.Q205X;ENSG00000134504:ENST00000317932:exon4:c.C613T:p.Q205X;ENSG00000134504:ENST00000417602:exon4:c.C2437T:p.Q813X;ENSG00000134504:ENST00000580191:exon4:c.C637T:p.Q213X;ENSG00000134504:ENST00000580638:exon4:c.C613T:p.Q205X;ENSG00000134504:ENST00000580059:exon4:c.C613T:p.Q205X;	0.999805520737725	0.99
18	24039586	G	C	18	26459622	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.C613G:p.Q205E;KCTD1:NM_198991:exon5:c.C613G:p.Q205E;KCTD1:NM_001142730:exon4:c.C2437G:p.Q813E;KCTD1:NM_001258222:exon4:c.C637G:p.Q213E;KCTD1:NM_001136205:exon4:c.C613G:p.Q205E;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.C613G:p.Q205E;ENSG00000134504:ENST00000579973:exon5:c.C613G:p.Q205E;ENSG00000134504:ENST00000317932:exon4:c.C613G:p.Q205E;ENSG00000134504:ENST00000417602:exon4:c.C2437G:p.Q813E;ENSG00000134504:ENST00000580191:exon4:c.C637G:p.Q213E;ENSG00000134504:ENST00000580638:exon4:c.C613G:p.Q205E;ENSG00000134504:ENST00000580059:exon4:c.C613G:p.Q205E;	0.969784408536955	0.698
18	24039586	G	T	18	26459622	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.C613A:p.Q205K;KCTD1:NM_198991:exon5:c.C613A:p.Q205K;KCTD1:NM_001142730:exon4:c.C2437A:p.Q813K;KCTD1:NM_001258222:exon4:c.C637A:p.Q213K;KCTD1:NM_001136205:exon4:c.C613A:p.Q205K;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.C613A:p.Q205K;ENSG00000134504:ENST00000579973:exon5:c.C613A:p.Q205K;ENSG00000134504:ENST00000317932:exon4:c.C613A:p.Q205K;ENSG00000134504:ENST00000417602:exon4:c.C2437A:p.Q813K;ENSG00000134504:ENST00000580191:exon4:c.C637A:p.Q213K;ENSG00000134504:ENST00000580638:exon4:c.C613A:p.Q205K;ENSG00000134504:ENST00000580059:exon4:c.C613A:p.Q205K;	0.974537971985895	0.754
18	24039888	T	A	18	26459924	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.A311T:p.D104V;KCTD1:NM_198991:exon5:c.A311T:p.D104V;KCTD1:NM_001142730:exon4:c.A2135T:p.D712V;KCTD1:NM_001258222:exon4:c.A335T:p.D112V;KCTD1:NM_001136205:exon4:c.A311T:p.D104V;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.A311T:p.D104V;ENSG00000134504:ENST00000579973:exon5:c.A311T:p.D104V;ENSG00000134504:ENST00000317932:exon4:c.A311T:p.D104V;ENSG00000134504:ENST00000417602:exon4:c.A2135T:p.D712V;ENSG00000134504:ENST00000580191:exon4:c.A335T:p.D112V;ENSG00000134504:ENST00000578973:exon3:c.A166T:p.T56S;ENSG00000134504:ENST00000580638:exon4:c.A311T:p.D104V;ENSG00000134504:ENST00000580059:exon4:c.A311T:p.D104V;	0.550602403739877	0.674
18	24039888	T	C	18	26459924	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.A311G:p.D104G;KCTD1:NM_198991:exon5:c.A311G:p.D104G;KCTD1:NM_001142730:exon4:c.A2135G:p.D712G;KCTD1:NM_001258222:exon4:c.A335G:p.D112G;KCTD1:NM_001136205:exon4:c.A311G:p.D104G;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.A311G:p.D104G;ENSG00000134504:ENST00000579973:exon5:c.A311G:p.D104G;ENSG00000134504:ENST00000317932:exon4:c.A311G:p.D104G;ENSG00000134504:ENST00000417602:exon4:c.A2135G:p.D712G;ENSG00000134504:ENST00000580191:exon4:c.A335G:p.D112G;ENSG00000134504:ENST00000578973:exon3:c.A166G:p.T56A;ENSG00000134504:ENST00000580638:exon4:c.A311G:p.D104G;ENSG00000134504:ENST00000580059:exon4:c.A311G:p.D104G;	0.736068887489267	0.682
18	24039888	T	G	18	26459924	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.A311C:p.D104A;KCTD1:NM_198991:exon5:c.A311C:p.D104A;KCTD1:NM_001142730:exon4:c.A2135C:p.D712A;KCTD1:NM_001258222:exon4:c.A335C:p.D112A;KCTD1:NM_001136205:exon4:c.A311C:p.D104A;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.A311C:p.D104A;ENSG00000134504:ENST00000579973:exon5:c.A311C:p.D104A;ENSG00000134504:ENST00000317932:exon4:c.A311C:p.D104A;ENSG00000134504:ENST00000417602:exon4:c.A2135C:p.D712A;ENSG00000134504:ENST00000580191:exon4:c.A335C:p.D112A;ENSG00000134504:ENST00000578973:exon3:c.A166C:p.T56P;ENSG00000134504:ENST00000580638:exon4:c.A311C:p.D104A;ENSG00000134504:ENST00000580059:exon4:c.A311C:p.D104A;	0.826482282268627	0.734
18	24039889	C	A	18	26459925	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.G310T:p.D104Y;KCTD1:NM_198991:exon5:c.G310T:p.D104Y;KCTD1:NM_001142730:exon4:c.G2134T:p.D712Y;KCTD1:NM_001258222:exon4:c.G334T:p.D112Y;KCTD1:NM_001136205:exon4:c.G310T:p.D104Y;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.G310T:p.D104Y;ENSG00000134504:ENST00000579973:exon5:c.G310T:p.D104Y;ENSG00000134504:ENST00000317932:exon4:c.G310T:p.D104Y;ENSG00000134504:ENST00000417602:exon4:c.G2134T:p.D712Y;ENSG00000134504:ENST00000580191:exon4:c.G334T:p.D112Y;ENSG00000134504:ENST00000578973:exon3:c.G165T:p.R55S;ENSG00000134504:ENST00000580638:exon4:c.G310T:p.D104Y;ENSG00000134504:ENST00000580059:exon4:c.G310T:p.D104Y;	0.999147830101025	0.798
18	24039889	C	G	18	26459925	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.G310C:p.D104H;KCTD1:NM_198991:exon5:c.G310C:p.D104H;KCTD1:NM_001142730:exon4:c.G2134C:p.D712H;KCTD1:NM_001258222:exon4:c.G334C:p.D112H;KCTD1:NM_001136205:exon4:c.G310C:p.D104H;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.G310C:p.D104H;ENSG00000134504:ENST00000579973:exon5:c.G310C:p.D104H;ENSG00000134504:ENST00000317932:exon4:c.G310C:p.D104H;ENSG00000134504:ENST00000417602:exon4:c.G2134C:p.D712H;ENSG00000134504:ENST00000580191:exon4:c.G334C:p.D112H;ENSG00000134504:ENST00000578973:exon3:c.G165C:p.R55S;ENSG00000134504:ENST00000580638:exon4:c.G310C:p.D104H;ENSG00000134504:ENST00000580059:exon4:c.G310C:p.D104H;	0.998458708020184	0.814
18	24039889	C	T	18	26459925	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon4:c.G310A:p.D104N;KCTD1:NM_198991:exon5:c.G310A:p.D104N;KCTD1:NM_001142730:exon4:c.G2134A:p.D712N;KCTD1:NM_001258222:exon4:c.G334A:p.D112N;KCTD1:NM_001136205:exon4:c.G310A:p.D104N;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon4:c.G310A:p.D104N;ENSG00000134504:ENST00000579973:exon5:c.G310A:p.D104N;ENSG00000134504:ENST00000317932:exon4:c.G310A:p.D104N;ENSG00000134504:ENST00000417602:exon4:c.G2134A:p.D712N;ENSG00000134504:ENST00000580191:exon4:c.G334A:p.D112N;ENSG00000134504:ENST00000580638:exon4:c.G310A:p.D104N;ENSG00000134504:ENST00000580059:exon4:c.G310A:p.D104N;	0.997954151483208	0.726
18	24039890	C	A	18	26459926	y	y	splicing	KCTD1(NM_001136205:exon5:c.310-1G>T;NM_001142730:exon5:c.2134-1G>T;NM_001258221:exon5:c.310-1G>T;NM_198991:exon6:c.310-1G>T;NM_001258222:exon5:c.334-1G>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.310-1G>T;ENST00000317932:exon5:c.310-1G>T;ENST00000417602:exon5:c.2134-1G>T;ENST00000408011:exon5:c.310-1G>T;ENST00000580059:exon5:c.310-1G>T;ENST00000580191:exon5:c.334-1G>T;ENST00000580638:exon5:c.310-1G>T;ENST00000578973:exon4:c.165-1G>T)	.	.	0.999986675681007	0.938
18	24039890	C	G	18	26459926	y	y	splicing	KCTD1(NM_001136205:exon5:c.310-1G>C;NM_001142730:exon5:c.2134-1G>C;NM_001258221:exon5:c.310-1G>C;NM_198991:exon6:c.310-1G>C;NM_001258222:exon5:c.334-1G>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.310-1G>C;ENST00000317932:exon5:c.310-1G>C;ENST00000417602:exon5:c.2134-1G>C;ENST00000408011:exon5:c.310-1G>C;ENST00000580059:exon5:c.310-1G>C;ENST00000580191:exon5:c.334-1G>C;ENST00000580638:exon5:c.310-1G>C;ENST00000578973:exon4:c.165-1G>C)	.	.	0.999986675681007	0.938
18	24039890	C	T	18	26459926	y	y	splicing	KCTD1(NM_001136205:exon5:c.310-1G>A;NM_001142730:exon5:c.2134-1G>A;NM_001258221:exon5:c.310-1G>A;NM_198991:exon6:c.310-1G>A;NM_001258222:exon5:c.334-1G>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.310-1G>A;ENST00000317932:exon5:c.310-1G>A;ENST00000417602:exon5:c.2134-1G>A;ENST00000408011:exon5:c.310-1G>A;ENST00000580059:exon5:c.310-1G>A;ENST00000580191:exon5:c.334-1G>A;ENST00000580638:exon5:c.310-1G>A;ENST00000578973:exon4:c.165-1G>A)	.	.	0.999986675681007	0.938
18	24039891	T	A	18	26459927	y	y	splicing	KCTD1(NM_001136205:exon5:c.310-2A>T;NM_001142730:exon5:c.2134-2A>T;NM_001258221:exon5:c.310-2A>T;NM_198991:exon6:c.310-2A>T;NM_001258222:exon5:c.334-2A>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.310-2A>T;ENST00000317932:exon5:c.310-2A>T;ENST00000417602:exon5:c.2134-2A>T;ENST00000408011:exon5:c.310-2A>T;ENST00000580059:exon5:c.310-2A>T;ENST00000580191:exon5:c.334-2A>T;ENST00000580638:exon5:c.310-2A>T;ENST00000578973:exon4:c.165-2A>T)	.	.	0.999989917668626	0.926
18	24039891	T	C	18	26459927	y	y	splicing	KCTD1(NM_001136205:exon5:c.310-2A>G;NM_001142730:exon5:c.2134-2A>G;NM_001258221:exon5:c.310-2A>G;NM_198991:exon6:c.310-2A>G;NM_001258222:exon5:c.334-2A>G)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.310-2A>G;ENST00000317932:exon5:c.310-2A>G;ENST00000417602:exon5:c.2134-2A>G;ENST00000408011:exon5:c.310-2A>G;ENST00000580059:exon5:c.310-2A>G;ENST00000580191:exon5:c.334-2A>G;ENST00000580638:exon5:c.310-2A>G;ENST00000578973:exon4:c.165-2A>G)	.	.	0.999989917668626	0.912
18	24039891	T	G	18	26459927	y	y	splicing	KCTD1(NM_001136205:exon5:c.310-2A>C;NM_001142730:exon5:c.2134-2A>C;NM_001258221:exon5:c.310-2A>C;NM_198991:exon6:c.310-2A>C;NM_001258222:exon5:c.334-2A>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon6:c.310-2A>C;ENST00000317932:exon5:c.310-2A>C;ENST00000417602:exon5:c.2134-2A>C;ENST00000408011:exon5:c.310-2A>C;ENST00000580059:exon5:c.310-2A>C;ENST00000580191:exon5:c.334-2A>C;ENST00000580638:exon5:c.310-2A>C;ENST00000578973:exon4:c.165-2A>C)	.	.	0.999989917668626	0.924
18	24039892	G	A	18	26459928	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.62051762374294E-4	0.116
18	24039892	G	C	18	26459928	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.747134550897834	0.588
18	24039892	G	T	18	26459928	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0458136526712641	0.372
18	24039893	G	A	18	26459929	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.66578238217843E-5	0.0
18	24039893	G	C	18	26459929	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.66578238217843E-5	0.0
18	24039893	G	T	18	26459929	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.66578238217843E-5	0.0
18	24039894	A	C	18	26459930	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.56563778297018E-4	0.054
18	24039894	A	G	18	26459930	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.19739056275524E-5	0.004
18	24039894	A	T	18	26459930	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	7.79950888043083E-5	0.018
18	24039895	A	C	18	26459931	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	8.98804479468806E-5	0.064
18	24039895	A	G	18	26459931	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.2815177618127E-5	0.01
18	24039895	A	T	18	26459931	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	8.07598670967876E-5	0.086
18	24039896	A	C	18	26459932	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.21919756321666E-5	0.002
18	24039896	A	G	18	26459932	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.75012811100038E-5	0.0
18	24039896	A	T	18	26459932	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	8.70699828754216E-5	0.01
18	24039897	A	C	18	26459933	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.25723147872187E-4	0.03
18	24039897	A	G	18	26459933	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	7.99423003264586E-5	0.0
18	24039897	A	T	18	26459933	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.79824594644784E-5	0.028
18	24039898	A	C	18	26459934	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	8.3081841210361E-5	0.09
18	24039898	A	G	18	26459934	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.93305425763907E-5	0.006
18	24039898	A	T	18	26459934	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.17877479489844E-4	0.074
18	24039899	A	C	18	26459935	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.40932847846089E-4	0.094
18	24039899	A	G	18	26459935	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.06692693308389E-4	0.01
18	24039899	A	T	18	26459935	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.76747930014523E-4	0.082
18	24039900	A	C	18	26459936	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.8819350951203E-4	0.12
18	24039900	A	G	18	26459936	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00120750424199772	0.04
18	24039900	A	T	18	26459936	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	7.80343700617205E-4	0.13
18	24039901	A	C	18	26459937	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00159009731635305	0.048
18	24039901	A	G	18	26459937	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	7.16677130332898E-4	0.022
18	24039901	A	T	18	26459937	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00280378018140385	0.072
18	24056471	T	A	18	26476507	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.37619690882338E-4	0.006
18	24056471	T	C	18	26476507	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00105366338095032	0.004
18	24056471	T	G	18	26476507	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	7.29197415808414E-4	0.0
18	24056472	C	A	18	26476508	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00320807235093112	0.06
18	24056472	C	G	18	26476508	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00435953662691141	0.088
18	24056472	C	T	18	26476508	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00643792753220437	0.066
18	24056473	C	A	18	26476509	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.38580140704177E-4	0.02
18	24056473	C	G	18	26476509	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00272506555979103	0.114
18	24056473	C	T	18	26476509	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00431049987774045	0.114
18	24056474	C	A	18	26476510	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999258956662519	0.92
18	24056474	C	G	18	26476510	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.993148381766692	0.742
18	24056474	C	T	18	26476510	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.997470490134256	0.91
18	24056475	T	A	18	26476511	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.994312594513001	0.844
18	24056475	T	C	18	26476511	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.997963738476957	0.904
18	24056475	T	G	18	26476511	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.996009807704327	0.87
18	24056476	C	A	18	26476512	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.996646361264557	0.888
18	24056476	C	G	18	26476512	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.998349460413569	0.918
18	24056476	C	T	18	26476512	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.155902278948928	0.324
18	24056477	A	C	18	26476513	y	y	splicing	KCTD1(NM_001136205:exon4:c.309+2T>G;NM_001142730:exon4:c.2133+2T>G;NM_001258221:exon4:c.309+2T>G;NM_198991:exon5:c.309+2T>G;NM_001258222:exon4:c.333+2T>G)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.309+2T>G;ENST00000317932:exon4:c.309+2T>G;ENST00000417602:exon4:c.2133+2T>G;ENST00000408011:exon4:c.309+2T>G;ENST00000580059:exon4:c.309+2T>G;ENST00000580191:exon4:c.333+2T>G;ENST00000580638:exon4:c.309+2T>G)	.	.	0.999988247793601	0.928
18	24056477	A	G	18	26476513	y	y	splicing	KCTD1(NM_001136205:exon4:c.309+2T>C;NM_001142730:exon4:c.2133+2T>C;NM_001258221:exon4:c.309+2T>C;NM_198991:exon5:c.309+2T>C;NM_001258222:exon4:c.333+2T>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.309+2T>C;ENST00000317932:exon4:c.309+2T>C;ENST00000417602:exon4:c.2133+2T>C;ENST00000408011:exon4:c.309+2T>C;ENST00000580059:exon4:c.309+2T>C;ENST00000580191:exon4:c.333+2T>C;ENST00000580638:exon4:c.309+2T>C)	.	.	0.99991520749976	0.868
18	24056477	A	T	18	26476513	y	y	splicing	KCTD1(NM_001136205:exon4:c.309+2T>A;NM_001142730:exon4:c.2133+2T>A;NM_001258221:exon4:c.309+2T>A;NM_198991:exon5:c.309+2T>A;NM_001258222:exon4:c.333+2T>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.309+2T>A;ENST00000317932:exon4:c.309+2T>A;ENST00000417602:exon4:c.2133+2T>A;ENST00000408011:exon4:c.309+2T>A;ENST00000580059:exon4:c.309+2T>A;ENST00000580191:exon4:c.333+2T>A;ENST00000580638:exon4:c.309+2T>A)	.	.	0.999988247793601	0.928
18	24056478	C	A	18	26476514	y	y	splicing	KCTD1(NM_001136205:exon4:c.309+1G>T;NM_001142730:exon4:c.2133+1G>T;NM_001258221:exon4:c.309+1G>T;NM_198991:exon5:c.309+1G>T;NM_001258222:exon4:c.333+1G>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.309+1G>T;ENST00000317932:exon4:c.309+1G>T;ENST00000417602:exon4:c.2133+1G>T;ENST00000408011:exon4:c.309+1G>T;ENST00000580059:exon4:c.309+1G>T;ENST00000580191:exon4:c.333+1G>T;ENST00000580638:exon4:c.309+1G>T)	.	.	0.999986675681007	0.932
18	24056478	C	G	18	26476514	y	y	splicing	KCTD1(NM_001136205:exon4:c.309+1G>C;NM_001142730:exon4:c.2133+1G>C;NM_001258221:exon4:c.309+1G>C;NM_198991:exon5:c.309+1G>C;NM_001258222:exon4:c.333+1G>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.309+1G>C;ENST00000317932:exon4:c.309+1G>C;ENST00000417602:exon4:c.2133+1G>C;ENST00000408011:exon4:c.309+1G>C;ENST00000580059:exon4:c.309+1G>C;ENST00000580191:exon4:c.333+1G>C;ENST00000580638:exon4:c.309+1G>C)	.	.	0.999986675681007	0.932
18	24056478	C	T	18	26476514	y	y	splicing	KCTD1(NM_001136205:exon4:c.309+1G>A;NM_001142730:exon4:c.2133+1G>A;NM_001258221:exon4:c.309+1G>A;NM_198991:exon5:c.309+1G>A;NM_001258222:exon4:c.333+1G>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.309+1G>A;ENST00000317932:exon4:c.309+1G>A;ENST00000417602:exon4:c.2133+1G>A;ENST00000408011:exon4:c.309+1G>A;ENST00000580059:exon4:c.309+1G>A;ENST00000580191:exon4:c.333+1G>A;ENST00000580638:exon4:c.309+1G>A)	.	.	0.999986675681007	0.932
18	24056479	C	A	18	26476515	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.G309T:p.K103N;KCTD1:NM_198991:exon4:c.G309T:p.K103N;KCTD1:NM_001142730:exon3:c.G2133T:p.K711N;KCTD1:NM_001258222:exon3:c.G333T:p.K111N;KCTD1:NM_001136205:exon3:c.G309T:p.K103N;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.G309T:p.K103N;ENSG00000134504:ENST00000579973:exon4:c.G309T:p.K103N;ENSG00000134504:ENST00000317932:exon3:c.G309T:p.K103N;ENSG00000134504:ENST00000417602:exon3:c.G2133T:p.K711N;ENSG00000134504:ENST00000580191:exon3:c.G333T:p.K111N;ENSG00000134504:ENST00000580638:exon3:c.G309T:p.K103N;ENSG00000134504:ENST00000580059:exon3:c.G309T:p.K103N;	0.999763716528856	0.996
18	24056479	C	G	18	26476515	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.G309C:p.K103N;KCTD1:NM_198991:exon4:c.G309C:p.K103N;KCTD1:NM_001142730:exon3:c.G2133C:p.K711N;KCTD1:NM_001258222:exon3:c.G333C:p.K111N;KCTD1:NM_001136205:exon3:c.G309C:p.K103N;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.G309C:p.K103N;ENSG00000134504:ENST00000579973:exon4:c.G309C:p.K103N;ENSG00000134504:ENST00000317932:exon3:c.G309C:p.K103N;ENSG00000134504:ENST00000417602:exon3:c.G2133C:p.K711N;ENSG00000134504:ENST00000580191:exon3:c.G333C:p.K111N;ENSG00000134504:ENST00000580638:exon3:c.G309C:p.K103N;ENSG00000134504:ENST00000580059:exon3:c.G309C:p.K103N;	0.999963497738432	0.994
18	24056479	C	T	18	26476515	y	y	exonic	KCTD1	synonymous SNV	KCTD1:NM_001258221:exon3:c.G309A:p.K103K;KCTD1:NM_198991:exon4:c.G309A:p.K103K;KCTD1:NM_001142730:exon3:c.G2133A:p.K711K;KCTD1:NM_001258222:exon3:c.G333A:p.K111K;KCTD1:NM_001136205:exon3:c.G309A:p.K103K;	exonic	ENSG00000134504	synonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.G309A:p.K103K;ENSG00000134504:ENST00000579973:exon4:c.G309A:p.K103K;ENSG00000134504:ENST00000317932:exon3:c.G309A:p.K103K;ENSG00000134504:ENST00000417602:exon3:c.G2133A:p.K711K;ENSG00000134504:ENST00000580191:exon3:c.G333A:p.K111K;ENSG00000134504:ENST00000580638:exon3:c.G309A:p.K103K;ENSG00000134504:ENST00000580059:exon3:c.G309A:p.K103K;	0.999596996478828	0.994
18	24056480	T	A	18	26476516	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A308T:p.K103M;KCTD1:NM_198991:exon4:c.A308T:p.K103M;KCTD1:NM_001142730:exon3:c.A2132T:p.K711M;KCTD1:NM_001258222:exon3:c.A332T:p.K111M;KCTD1:NM_001136205:exon3:c.A308T:p.K103M;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A308T:p.K103M;ENSG00000134504:ENST00000579973:exon4:c.A308T:p.K103M;ENSG00000134504:ENST00000317932:exon3:c.A308T:p.K103M;ENSG00000134504:ENST00000417602:exon3:c.A2132T:p.K711M;ENSG00000134504:ENST00000580191:exon3:c.A332T:p.K111M;ENSG00000134504:ENST00000580638:exon3:c.A308T:p.K103M;ENSG00000134504:ENST00000580059:exon3:c.A308T:p.K103M;	0.993099594279351	0.848
18	24056480	T	C	18	26476516	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A308G:p.K103R;KCTD1:NM_198991:exon4:c.A308G:p.K103R;KCTD1:NM_001142730:exon3:c.A2132G:p.K711R;KCTD1:NM_001258222:exon3:c.A332G:p.K111R;KCTD1:NM_001136205:exon3:c.A308G:p.K103R;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A308G:p.K103R;ENSG00000134504:ENST00000579973:exon4:c.A308G:p.K103R;ENSG00000134504:ENST00000317932:exon3:c.A308G:p.K103R;ENSG00000134504:ENST00000417602:exon3:c.A2132G:p.K711R;ENSG00000134504:ENST00000580191:exon3:c.A332G:p.K111R;ENSG00000134504:ENST00000580638:exon3:c.A308G:p.K103R;ENSG00000134504:ENST00000580059:exon3:c.A308G:p.K103R;	0.982021008818383	0.842
18	24056480	T	G	18	26476516	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A308C:p.K103T;KCTD1:NM_198991:exon4:c.A308C:p.K103T;KCTD1:NM_001142730:exon3:c.A2132C:p.K711T;KCTD1:NM_001258222:exon3:c.A332C:p.K111T;KCTD1:NM_001136205:exon3:c.A308C:p.K103T;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A308C:p.K103T;ENSG00000134504:ENST00000579973:exon4:c.A308C:p.K103T;ENSG00000134504:ENST00000317932:exon3:c.A308C:p.K103T;ENSG00000134504:ENST00000417602:exon3:c.A2132C:p.K711T;ENSG00000134504:ENST00000580191:exon3:c.A332C:p.K111T;ENSG00000134504:ENST00000580638:exon3:c.A308C:p.K103T;ENSG00000134504:ENST00000580059:exon3:c.A308C:p.K103T;	0.617894983359436	0.686
18	24056481	T	A	18	26476517	y	y	exonic	KCTD1	stopgain SNV	KCTD1:NM_001258221:exon3:c.A307T:p.K103X;KCTD1:NM_198991:exon4:c.A307T:p.K103X;KCTD1:NM_001142730:exon3:c.A2131T:p.K711X;KCTD1:NM_001258222:exon3:c.A331T:p.K111X;KCTD1:NM_001136205:exon3:c.A307T:p.K103X;	exonic	ENSG00000134504	stopgain SNV	ENSG00000134504:ENST00000408011:exon3:c.A307T:p.K103X;ENSG00000134504:ENST00000579973:exon4:c.A307T:p.K103X;ENSG00000134504:ENST00000317932:exon3:c.A307T:p.K103X;ENSG00000134504:ENST00000417602:exon3:c.A2131T:p.K711X;ENSG00000134504:ENST00000580191:exon3:c.A331T:p.K111X;ENSG00000134504:ENST00000580638:exon3:c.A307T:p.K103X;ENSG00000134504:ENST00000580059:exon3:c.A307T:p.K103X;	0.987313756881227	0.69
18	24056481	T	C	18	26476517	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A307G:p.K103E;KCTD1:NM_198991:exon4:c.A307G:p.K103E;KCTD1:NM_001142730:exon3:c.A2131G:p.K711E;KCTD1:NM_001258222:exon3:c.A331G:p.K111E;KCTD1:NM_001136205:exon3:c.A307G:p.K103E;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A307G:p.K103E;ENSG00000134504:ENST00000579973:exon4:c.A307G:p.K103E;ENSG00000134504:ENST00000317932:exon3:c.A307G:p.K103E;ENSG00000134504:ENST00000417602:exon3:c.A2131G:p.K711E;ENSG00000134504:ENST00000580191:exon3:c.A331G:p.K111E;ENSG00000134504:ENST00000580638:exon3:c.A307G:p.K103E;ENSG00000134504:ENST00000580059:exon3:c.A307G:p.K103E;	0.0242525641670163	0.274
18	24056481	T	G	18	26476517	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A307C:p.K103Q;KCTD1:NM_198991:exon4:c.A307C:p.K103Q;KCTD1:NM_001142730:exon3:c.A2131C:p.K711Q;KCTD1:NM_001258222:exon3:c.A331C:p.K111Q;KCTD1:NM_001136205:exon3:c.A307C:p.K103Q;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A307C:p.K103Q;ENSG00000134504:ENST00000579973:exon4:c.A307C:p.K103Q;ENSG00000134504:ENST00000317932:exon3:c.A307C:p.K103Q;ENSG00000134504:ENST00000417602:exon3:c.A2131C:p.K711Q;ENSG00000134504:ENST00000580191:exon3:c.A331C:p.K111Q;ENSG00000134504:ENST00000580638:exon3:c.A307C:p.K103Q;ENSG00000134504:ENST00000580059:exon3:c.A307C:p.K103Q;	0.0167286891815353	0.186
18	24056622	T	A	18	26476658	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A166T:p.I56F;KCTD1:NM_198991:exon4:c.A166T:p.I56F;KCTD1:NM_001142730:exon3:c.A1990T:p.I664F;KCTD1:NM_001258222:exon3:c.A190T:p.I64F;KCTD1:NM_001136205:exon3:c.A166T:p.I56F;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A166T:p.I56F;ENSG00000134504:ENST00000579973:exon4:c.A166T:p.I56F;ENSG00000134504:ENST00000317932:exon3:c.A166T:p.I56F;ENSG00000134504:ENST00000417602:exon3:c.A1990T:p.I664F;ENSG00000134504:ENST00000580191:exon3:c.A190T:p.I64F;ENSG00000134504:ENST00000580638:exon3:c.A166T:p.I56F;ENSG00000134504:ENST00000580059:exon3:c.A166T:p.I56F;	0.846820040352273	0.858
18	24056622	T	C	18	26476658	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A166G:p.I56V;KCTD1:NM_198991:exon4:c.A166G:p.I56V;KCTD1:NM_001142730:exon3:c.A1990G:p.I664V;KCTD1:NM_001258222:exon3:c.A190G:p.I64V;KCTD1:NM_001136205:exon3:c.A166G:p.I56V;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A166G:p.I56V;ENSG00000134504:ENST00000579973:exon4:c.A166G:p.I56V;ENSG00000134504:ENST00000317932:exon3:c.A166G:p.I56V;ENSG00000134504:ENST00000417602:exon3:c.A1990G:p.I664V;ENSG00000134504:ENST00000580191:exon3:c.A190G:p.I64V;ENSG00000134504:ENST00000580638:exon3:c.A166G:p.I56V;ENSG00000134504:ENST00000580059:exon3:c.A166G:p.I56V;	0.821911282526036	0.83
18	24056622	T	G	18	26476658	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A166C:p.I56L;KCTD1:NM_198991:exon4:c.A166C:p.I56L;KCTD1:NM_001142730:exon3:c.A1990C:p.I664L;KCTD1:NM_001258222:exon3:c.A190C:p.I64L;KCTD1:NM_001136205:exon3:c.A166C:p.I56L;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A166C:p.I56L;ENSG00000134504:ENST00000579973:exon4:c.A166C:p.I56L;ENSG00000134504:ENST00000317932:exon3:c.A166C:p.I56L;ENSG00000134504:ENST00000417602:exon3:c.A1990C:p.I664L;ENSG00000134504:ENST00000580191:exon3:c.A190C:p.I64L;ENSG00000134504:ENST00000580638:exon3:c.A166C:p.I56L;ENSG00000134504:ENST00000580059:exon3:c.A166C:p.I56L;	0.00258196978051455	0.044
18	24056623	T	A	18	26476659	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A165T:p.R55S;KCTD1:NM_198991:exon4:c.A165T:p.R55S;KCTD1:NM_001142730:exon3:c.A1989T:p.R663S;KCTD1:NM_001258222:exon3:c.A189T:p.R63S;KCTD1:NM_001136205:exon3:c.A165T:p.R55S;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A165T:p.R55S;ENSG00000134504:ENST00000579973:exon4:c.A165T:p.R55S;ENSG00000134504:ENST00000317932:exon3:c.A165T:p.R55S;ENSG00000134504:ENST00000417602:exon3:c.A1989T:p.R663S;ENSG00000134504:ENST00000580191:exon3:c.A189T:p.R63S;ENSG00000134504:ENST00000580638:exon3:c.A165T:p.R55S;ENSG00000134504:ENST00000580059:exon3:c.A165T:p.R55S;	0.669567592726161	0.55
18	24056623	T	C	18	26476659	y	y	exonic	KCTD1	synonymous SNV	KCTD1:NM_001258221:exon3:c.A165G:p.R55R;KCTD1:NM_198991:exon4:c.A165G:p.R55R;KCTD1:NM_001142730:exon3:c.A1989G:p.R663R;KCTD1:NM_001258222:exon3:c.A189G:p.R63R;KCTD1:NM_001136205:exon3:c.A165G:p.R55R;	exonic	ENSG00000134504	synonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A165G:p.R55R;ENSG00000134504:ENST00000579973:exon4:c.A165G:p.R55R;ENSG00000134504:ENST00000317932:exon3:c.A165G:p.R55R;ENSG00000134504:ENST00000417602:exon3:c.A1989G:p.R663R;ENSG00000134504:ENST00000580191:exon3:c.A189G:p.R63R;ENSG00000134504:ENST00000580638:exon3:c.A165G:p.R55R;ENSG00000134504:ENST00000580059:exon3:c.A165G:p.R55R;	0.284152457335594	0.514
18	24056623	T	G	18	26476659	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon3:c.A165C:p.R55S;KCTD1:NM_198991:exon4:c.A165C:p.R55S;KCTD1:NM_001142730:exon3:c.A1989C:p.R663S;KCTD1:NM_001258222:exon3:c.A189C:p.R63S;KCTD1:NM_001136205:exon3:c.A165C:p.R55S;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon3:c.A165C:p.R55S;ENSG00000134504:ENST00000579973:exon4:c.A165C:p.R55S;ENSG00000134504:ENST00000317932:exon3:c.A165C:p.R55S;ENSG00000134504:ENST00000417602:exon3:c.A1989C:p.R663S;ENSG00000134504:ENST00000580191:exon3:c.A189C:p.R63S;ENSG00000134504:ENST00000580638:exon3:c.A165C:p.R55S;ENSG00000134504:ENST00000580059:exon3:c.A165C:p.R55S;	0.66191869641808	0.58
18	24056624	C	A	18	26476660	y	y	splicing	KCTD1(NM_001136205:exon4:c.165-1G>T;NM_001142730:exon4:c.1989-1G>T;NM_001258221:exon4:c.165-1G>T;NM_198991:exon5:c.165-1G>T;NM_001258222:exon4:c.189-1G>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.165-1G>T;ENST00000317932:exon4:c.165-1G>T;ENST00000417602:exon4:c.1989-1G>T;ENST00000408011:exon4:c.165-1G>T;ENST00000580059:exon4:c.165-1G>T;ENST00000580191:exon4:c.189-1G>T;ENST00000580638:exon4:c.165-1G>T)	.	.	0.999985532734767	0.936
18	24056624	C	G	18	26476660	y	y	splicing	KCTD1(NM_001136205:exon4:c.165-1G>C;NM_001142730:exon4:c.1989-1G>C;NM_001258221:exon4:c.165-1G>C;NM_198991:exon5:c.165-1G>C;NM_001258222:exon4:c.189-1G>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.165-1G>C;ENST00000317932:exon4:c.165-1G>C;ENST00000417602:exon4:c.1989-1G>C;ENST00000408011:exon4:c.165-1G>C;ENST00000580059:exon4:c.165-1G>C;ENST00000580191:exon4:c.189-1G>C;ENST00000580638:exon4:c.165-1G>C)	.	.	0.999985532734767	0.936
18	24056624	C	T	18	26476660	y	y	splicing	KCTD1(NM_001136205:exon4:c.165-1G>A;NM_001142730:exon4:c.1989-1G>A;NM_001258221:exon4:c.165-1G>A;NM_198991:exon5:c.165-1G>A;NM_001258222:exon4:c.189-1G>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.165-1G>A;ENST00000317932:exon4:c.165-1G>A;ENST00000417602:exon4:c.1989-1G>A;ENST00000408011:exon4:c.165-1G>A;ENST00000580059:exon4:c.165-1G>A;ENST00000580191:exon4:c.189-1G>A;ENST00000580638:exon4:c.165-1G>A)	.	.	0.999985532734767	0.936
18	24056625	T	A	18	26476661	y	y	splicing	KCTD1(NM_001136205:exon4:c.165-2A>T;NM_001142730:exon4:c.1989-2A>T;NM_001258221:exon4:c.165-2A>T;NM_198991:exon5:c.165-2A>T;NM_001258222:exon4:c.189-2A>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.165-2A>T;ENST00000317932:exon4:c.165-2A>T;ENST00000417602:exon4:c.1989-2A>T;ENST00000408011:exon4:c.165-2A>T;ENST00000580059:exon4:c.165-2A>T;ENST00000580191:exon4:c.189-2A>T;ENST00000580638:exon4:c.165-2A>T)	.	.	0.999988247793601	0.928
18	24056625	T	C	18	26476661	y	y	splicing	KCTD1(NM_001136205:exon4:c.165-2A>G;NM_001142730:exon4:c.1989-2A>G;NM_001258221:exon4:c.165-2A>G;NM_198991:exon5:c.165-2A>G;NM_001258222:exon4:c.189-2A>G)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.165-2A>G;ENST00000317932:exon4:c.165-2A>G;ENST00000417602:exon4:c.1989-2A>G;ENST00000408011:exon4:c.165-2A>G;ENST00000580059:exon4:c.165-2A>G;ENST00000580191:exon4:c.189-2A>G;ENST00000580638:exon4:c.165-2A>G)	.	.	0.999988247793601	0.928
18	24056625	T	G	18	26476661	y	y	splicing	KCTD1(NM_001136205:exon4:c.165-2A>C;NM_001142730:exon4:c.1989-2A>C;NM_001258221:exon4:c.165-2A>C;NM_198991:exon5:c.165-2A>C;NM_001258222:exon4:c.189-2A>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon5:c.165-2A>C;ENST00000317932:exon4:c.165-2A>C;ENST00000417602:exon4:c.1989-2A>C;ENST00000408011:exon4:c.165-2A>C;ENST00000580059:exon4:c.165-2A>C;ENST00000580191:exon4:c.189-2A>C;ENST00000580638:exon4:c.165-2A>C)	.	.	0.999988247793601	0.928
18	24056626	G	A	18	26476662	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.231388757820881	0.222
18	24056626	G	C	18	26476662	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999496674906312	0.936
18	24056626	G	T	18	26476662	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.996630783261949	0.916
18	24056627	T	A	18	26476663	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.25650585840164E-5	0.072
18	24056627	T	C	18	26476663	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.93019711119725E-5	0.066
18	24056627	T	G	18	26476663	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	8.51194025684688E-5	0.058
18	24056628	G	A	18	26476664	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.228317525754947	0.476
18	24056628	G	C	18	26476664	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.130549126508691	0.216
18	24056628	G	T	18	26476664	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.179638224587259	0.238
18	24056629	A	C	18	26476665	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999814910191335	0.936
18	24056629	A	G	18	26476665	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.85698600733842E-5	0.06
18	24056629	A	T	18	26476665	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.37579683969255E-4	0.168
18	24056630	T	A	18	26476666	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.44256975503796E-5	0.042
18	24056630	T	C	18	26476666	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.61196644904082E-5	0.044
18	24056630	T	G	18	26476666	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	8.80237735448859E-6	0.028
18	24056631	A	C	18	26476667	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00151569800222973	0.166
18	24056631	A	G	18	26476667	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.06717984481286E-4	0.066
18	24056631	A	T	18	26476667	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00205308041799706	0.078
18	24056632	G	A	18	26476668	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00126521864634674	0.344
18	24056632	G	C	18	26476668	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00174233318971233	0.238
18	24056632	G	T	18	26476668	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0034212627966076	0.218
18	24056633	A	C	18	26476669	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.39069048501795E-4	0.15
18	24056633	A	G	18	26476669	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.49440498824394E-6	0.022
18	24056633	A	T	18	26476669	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.83525878078294E-4	0.13
18	24056634	A	C	18	26476670	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.981650667287111	0.642
18	24056634	A	G	18	26476670	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.807058844330888	0.466
18	24056634	A	T	18	26476670	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.957063898200803	0.734
18	24056635	A	C	18	26476671	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.91081150152338E-4	0.142
18	24056635	A	G	18	26476671	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.66438708074735E-5	0.052
18	24056635	A	T	18	26476671	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00170537538541034	0.13
18	24081028	C	A	18	26501064	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.49627804458913E-4	0.01
18	24081028	C	G	18	26501064	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.46987775745368E-4	0.01
18	24081028	C	T	18	26501064	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.71100454748313E-4	0.014
18	24081029	A	C	18	26501065	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	8.63227226025522E-5	0.0
18	24081029	A	G	18	26501065	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.06293756159035E-4	0.0
18	24081029	A	T	18	26501065	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.74016057056267E-4	0.004
18	24081030	G	A	18	26501066	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.84386336662227E-4	0.008
18	24081030	G	C	18	26501066	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.06169277922422E-4	0.024
18	24081030	G	T	18	26501066	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	7.39740255666833E-5	0.032
18	24081031	A	C	18	26501067	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00123517864709707	0.046
18	24081031	A	G	18	26501067	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.6660261025313E-4	0.014
18	24081031	A	T	18	26501067	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.54247569228646E-4	0.008
18	24081032	T	A	18	26501068	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.998879832331077	0.908
18	24081032	T	C	18	26501068	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.997912295048571	0.904
18	24081032	T	G	18	26501068	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.990431096833053	0.878
18	24081033	T	A	18	26501069	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.99981917991791	0.95
18	24081033	T	C	18	26501069	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999115116442618	0.968
18	24081033	T	G	18	26501069	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999915517012164	0.962
18	24081034	A	C	18	26501070	y	y	splicing	KCTD1(NM_001136205:exon3:c.164+2T>G;NM_001142730:exon3:c.1988+2T>G;NM_001258221:exon3:c.164+2T>G;NM_198991:exon4:c.164+2T>G;NM_001258222:exon3:c.188+2T>G)	.	.	splicing	ENSG00000134504(ENST00000579973:exon4:c.164+2T>G;ENST00000317932:exon3:c.164+2T>G;ENST00000417602:exon3:c.1988+2T>G;ENST00000408011:exon3:c.164+2T>G;ENST00000580059:exon3:c.164+2T>G;ENST00000580191:exon3:c.188+2T>G;ENST00000580638:exon3:c.164+2T>G;ENST00000578973:exon3:c.164+2T>G)	.	.	0.999988247793601	0.93
18	24081034	A	G	18	26501070	y	y	splicing	KCTD1(NM_001136205:exon3:c.164+2T>C;NM_001142730:exon3:c.1988+2T>C;NM_001258221:exon3:c.164+2T>C;NM_198991:exon4:c.164+2T>C;NM_001258222:exon3:c.188+2T>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon4:c.164+2T>C;ENST00000317932:exon3:c.164+2T>C;ENST00000417602:exon3:c.1988+2T>C;ENST00000408011:exon3:c.164+2T>C;ENST00000580059:exon3:c.164+2T>C;ENST00000580191:exon3:c.188+2T>C;ENST00000580638:exon3:c.164+2T>C;ENST00000578973:exon3:c.164+2T>C)	.	.	0.992054276455321	0.644
18	24081034	A	T	18	26501070	y	y	splicing	KCTD1(NM_001136205:exon3:c.164+2T>A;NM_001142730:exon3:c.1988+2T>A;NM_001258221:exon3:c.164+2T>A;NM_198991:exon4:c.164+2T>A;NM_001258222:exon3:c.188+2T>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon4:c.164+2T>A;ENST00000317932:exon3:c.164+2T>A;ENST00000417602:exon3:c.1988+2T>A;ENST00000408011:exon3:c.164+2T>A;ENST00000580059:exon3:c.164+2T>A;ENST00000580191:exon3:c.188+2T>A;ENST00000580638:exon3:c.164+2T>A;ENST00000578973:exon3:c.164+2T>A)	.	.	0.999988247793601	0.93
18	24081035	C	A	18	26501071	y	y	splicing	KCTD1(NM_001136205:exon3:c.164+1G>T;NM_001142730:exon3:c.1988+1G>T;NM_001258221:exon3:c.164+1G>T;NM_198991:exon4:c.164+1G>T;NM_001258222:exon3:c.188+1G>T)	.	.	splicing	ENSG00000134504(ENST00000579973:exon4:c.164+1G>T;ENST00000317932:exon3:c.164+1G>T;ENST00000417602:exon3:c.1988+1G>T;ENST00000408011:exon3:c.164+1G>T;ENST00000580059:exon3:c.164+1G>T;ENST00000580191:exon3:c.188+1G>T;ENST00000580638:exon3:c.164+1G>T;ENST00000578973:exon3:c.164+1G>T)	.	.	0.999989072007339	0.934
18	24081035	C	G	18	26501071	y	y	splicing	KCTD1(NM_001136205:exon3:c.164+1G>C;NM_001142730:exon3:c.1988+1G>C;NM_001258221:exon3:c.164+1G>C;NM_198991:exon4:c.164+1G>C;NM_001258222:exon3:c.188+1G>C)	.	.	splicing	ENSG00000134504(ENST00000579973:exon4:c.164+1G>C;ENST00000317932:exon3:c.164+1G>C;ENST00000417602:exon3:c.1988+1G>C;ENST00000408011:exon3:c.164+1G>C;ENST00000580059:exon3:c.164+1G>C;ENST00000580191:exon3:c.188+1G>C;ENST00000580638:exon3:c.164+1G>C;ENST00000578973:exon3:c.164+1G>C)	.	.	0.999989072007339	0.934
18	24081035	C	T	18	26501071	y	y	splicing	KCTD1(NM_001136205:exon3:c.164+1G>A;NM_001142730:exon3:c.1988+1G>A;NM_001258221:exon3:c.164+1G>A;NM_198991:exon4:c.164+1G>A;NM_001258222:exon3:c.188+1G>A)	.	.	splicing	ENSG00000134504(ENST00000579973:exon4:c.164+1G>A;ENST00000317932:exon3:c.164+1G>A;ENST00000417602:exon3:c.1988+1G>A;ENST00000408011:exon3:c.164+1G>A;ENST00000580059:exon3:c.164+1G>A;ENST00000580191:exon3:c.188+1G>A;ENST00000580638:exon3:c.164+1G>A;ENST00000578973:exon3:c.164+1G>A)	.	.	0.999989072007339	0.934
18	24081036	C	A	18	26501072	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon2:c.G164T:p.R55I;KCTD1:NM_198991:exon3:c.G164T:p.R55I;KCTD1:NM_001142730:exon2:c.G1988T:p.R663I;KCTD1:NM_001258222:exon2:c.G188T:p.R63I;KCTD1:NM_001136205:exon2:c.G164T:p.R55I;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon2:c.G164T:p.R55I;ENSG00000134504:ENST00000579973:exon3:c.G164T:p.R55I;ENSG00000134504:ENST00000317932:exon2:c.G164T:p.R55I;ENSG00000134504:ENST00000417602:exon2:c.G1988T:p.R663I;ENSG00000134504:ENST00000580191:exon2:c.G188T:p.R63I;ENSG00000134504:ENST00000578973:exon2:c.G164T:p.R55M;ENSG00000134504:ENST00000580638:exon2:c.G164T:p.R55I;ENSG00000134504:ENST00000580059:exon2:c.G164T:p.R55I;	0.999988452656952	0.994
18	24081036	C	G	18	26501072	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon2:c.G164C:p.R55T;KCTD1:NM_198991:exon3:c.G164C:p.R55T;KCTD1:NM_001142730:exon2:c.G1988C:p.R663T;KCTD1:NM_001258222:exon2:c.G188C:p.R63T;KCTD1:NM_001136205:exon2:c.G164C:p.R55T;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon2:c.G164C:p.R55T;ENSG00000134504:ENST00000579973:exon3:c.G164C:p.R55T;ENSG00000134504:ENST00000317932:exon2:c.G164C:p.R55T;ENSG00000134504:ENST00000417602:exon2:c.G1988C:p.R663T;ENSG00000134504:ENST00000580191:exon2:c.G188C:p.R63T;ENSG00000134504:ENST00000578973:exon2:c.G164C:p.R55T;ENSG00000134504:ENST00000580638:exon2:c.G164C:p.R55T;ENSG00000134504:ENST00000580059:exon2:c.G164C:p.R55T;	0.999997291177303	1.0
18	24081036	C	T	18	26501072	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon2:c.G164A:p.R55K;KCTD1:NM_198991:exon3:c.G164A:p.R55K;KCTD1:NM_001142730:exon2:c.G1988A:p.R663K;KCTD1:NM_001258222:exon2:c.G188A:p.R63K;KCTD1:NM_001136205:exon2:c.G164A:p.R55K;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon2:c.G164A:p.R55K;ENSG00000134504:ENST00000579973:exon3:c.G164A:p.R55K;ENSG00000134504:ENST00000317932:exon2:c.G164A:p.R55K;ENSG00000134504:ENST00000417602:exon2:c.G1988A:p.R663K;ENSG00000134504:ENST00000580191:exon2:c.G188A:p.R63K;ENSG00000134504:ENST00000578973:exon2:c.G164A:p.R55K;ENSG00000134504:ENST00000580638:exon2:c.G164A:p.R55K;ENSG00000134504:ENST00000580059:exon2:c.G164A:p.R55K;	0.999993449494972	1.0
18	24081037	T	A	18	26501073	y	y	exonic	KCTD1	stopgain SNV	KCTD1:NM_001258221:exon2:c.A163T:p.R55X;KCTD1:NM_198991:exon3:c.A163T:p.R55X;KCTD1:NM_001142730:exon2:c.A1987T:p.R663X;KCTD1:NM_001258222:exon2:c.A187T:p.R63X;KCTD1:NM_001136205:exon2:c.A163T:p.R55X;	exonic	ENSG00000134504	stopgain SNV	ENSG00000134504:ENST00000408011:exon2:c.A163T:p.R55X;ENSG00000134504:ENST00000579973:exon3:c.A163T:p.R55X;ENSG00000134504:ENST00000317932:exon2:c.A163T:p.R55X;ENSG00000134504:ENST00000417602:exon2:c.A1987T:p.R663X;ENSG00000134504:ENST00000580191:exon2:c.A187T:p.R63X;ENSG00000134504:ENST00000580638:exon2:c.A163T:p.R55X;ENSG00000134504:ENST00000580059:exon2:c.A163T:p.R55X;	0.999909196918191	0.99
18	24081037	T	C	18	26501073	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001258221:exon2:c.A163G:p.R55G;KCTD1:NM_198991:exon3:c.A163G:p.R55G;KCTD1:NM_001142730:exon2:c.A1987G:p.R663G;KCTD1:NM_001258222:exon2:c.A187G:p.R63G;KCTD1:NM_001136205:exon2:c.A163G:p.R55G;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000408011:exon2:c.A163G:p.R55G;ENSG00000134504:ENST00000579973:exon3:c.A163G:p.R55G;ENSG00000134504:ENST00000317932:exon2:c.A163G:p.R55G;ENSG00000134504:ENST00000417602:exon2:c.A1987G:p.R663G;ENSG00000134504:ENST00000580191:exon2:c.A187G:p.R63G;ENSG00000134504:ENST00000578973:exon2:c.A163G:p.R55G;ENSG00000134504:ENST00000580638:exon2:c.A163G:p.R55G;ENSG00000134504:ENST00000580059:exon2:c.A163G:p.R55G;	0.999925284156266	1.0
18	24081037	T	G	18	26501073	y	y	exonic	KCTD1	synonymous SNV	KCTD1:NM_001258221:exon2:c.A163C:p.R55R;KCTD1:NM_198991:exon3:c.A163C:p.R55R;KCTD1:NM_001142730:exon2:c.A1987C:p.R663R;KCTD1:NM_001258222:exon2:c.A187C:p.R63R;KCTD1:NM_001136205:exon2:c.A163C:p.R55R;	exonic	ENSG00000134504	synonymous SNV	ENSG00000134504:ENST00000408011:exon2:c.A163C:p.R55R;ENSG00000134504:ENST00000579973:exon3:c.A163C:p.R55R;ENSG00000134504:ENST00000317932:exon2:c.A163C:p.R55R;ENSG00000134504:ENST00000417602:exon2:c.A1987C:p.R663R;ENSG00000134504:ENST00000580191:exon2:c.A187C:p.R63R;ENSG00000134504:ENST00000578973:exon2:c.A163C:p.R55R;ENSG00000134504:ENST00000580638:exon2:c.A163C:p.R55R;ENSG00000134504:ENST00000580059:exon2:c.A163C:p.R55R;	0.99749926349972	0.954
18	24081038	G	A	18	26501074	y	y	exonic	KCTD1	synonymous SNV	KCTD1:NM_001258221:exon2:c.C162T:p.S54S;KCTD1:NM_198991:exon3:c.C162T:p.S54S;KCTD1:NM_001142730:exon2:c.C1986T:p.S662S;KCTD1:NM_001258222:exon2:c.C186T:p.S62S;KCTD1:NM_001136205:exon2:c.C162T:p.S54S;	exonic	ENSG00000134504	synonymous SNV	ENSG00000134504:ENST00000408011:exon2:c.C162T:p.S54S;ENSG00000134504:ENST00000579973:exon3:c.C162T:p.S54S;ENSG00000134504:ENST00000317932:exon2:c.C162T:p.S54S;ENSG00000134504:ENST00000417602:exon2:c.C1986T:p.S662S;ENSG00000134504:ENST00000580191:exon2:c.C186T:p.S62S;ENSG00000134504:ENST00000578973:exon2:c.C162T:p.S54S;ENSG00000134504:ENST00000580638:exon2:c.C162T:p.S54S;ENSG00000134504:ENST00000580059:exon2:c.C162T:p.S54S;	0.00710545682040147	0.208
18	24081038	G	C	18	26501074	y	y	exonic	KCTD1	synonymous SNV	KCTD1:NM_001258221:exon2:c.C162G:p.S54S;KCTD1:NM_198991:exon3:c.C162G:p.S54S;KCTD1:NM_001142730:exon2:c.C1986G:p.S662S;KCTD1:NM_001258222:exon2:c.C186G:p.S62S;KCTD1:NM_001136205:exon2:c.C162G:p.S54S;	exonic	ENSG00000134504	synonymous SNV	ENSG00000134504:ENST00000408011:exon2:c.C162G:p.S54S;ENSG00000134504:ENST00000579973:exon3:c.C162G:p.S54S;ENSG00000134504:ENST00000317932:exon2:c.C162G:p.S54S;ENSG00000134504:ENST00000417602:exon2:c.C1986G:p.S662S;ENSG00000134504:ENST00000580191:exon2:c.C186G:p.S62S;ENSG00000134504:ENST00000578973:exon2:c.C162G:p.S54S;ENSG00000134504:ENST00000580638:exon2:c.C162G:p.S54S;ENSG00000134504:ENST00000580059:exon2:c.C162G:p.S54S;	1.93384933853612E-4	0.024
18	24081038	G	T	18	26501074	y	y	exonic	KCTD1	synonymous SNV	KCTD1:NM_001258221:exon2:c.C162A:p.S54S;KCTD1:NM_198991:exon3:c.C162A:p.S54S;KCTD1:NM_001142730:exon2:c.C1986A:p.S662S;KCTD1:NM_001258222:exon2:c.C186A:p.S62S;KCTD1:NM_001136205:exon2:c.C162A:p.S54S;	exonic	ENSG00000134504	synonymous SNV	ENSG00000134504:ENST00000408011:exon2:c.C162A:p.S54S;ENSG00000134504:ENST00000579973:exon3:c.C162A:p.S54S;ENSG00000134504:ENST00000317932:exon2:c.C162A:p.S54S;ENSG00000134504:ENST00000417602:exon2:c.C1986A:p.S662S;ENSG00000134504:ENST00000580191:exon2:c.C186A:p.S62S;ENSG00000134504:ENST00000578973:exon2:c.C162A:p.S54S;ENSG00000134504:ENST00000580638:exon2:c.C162A:p.S54S;ENSG00000134504:ENST00000580059:exon2:c.C162A:p.S54S;	6.01132188043412E-5	0.032
18	24081213	T	A	18	26501249	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon2:c.A1811T:p.D604V;KCTD1:NM_001258222:exon2:c.A11T:p.D4V;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon2:c.A1811T:p.D604V;ENSG00000134504:ENST00000580191:exon2:c.A11T:p.D4V;	0.656274235950459	0.658
18	24081213	T	C	18	26501249	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon2:c.A1811G:p.D604G;KCTD1:NM_001258222:exon2:c.A11G:p.D4G;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon2:c.A1811G:p.D604G;ENSG00000134504:ENST00000580191:exon2:c.A11G:p.D4G;	0.684950261246651	0.34
18	24081213	T	G	18	26501249	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon2:c.A1811C:p.D604A;KCTD1:NM_001258222:exon2:c.A11C:p.D4A;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon2:c.A1811C:p.D604A;ENSG00000134504:ENST00000580191:exon2:c.A11C:p.D4A;	0.675111263960804	0.652
18	24081214	C	A	18	26501250	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon2:c.G1810T:p.D604Y;KCTD1:NM_001258222:exon2:c.G10T:p.D4Y;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon2:c.G1810T:p.D604Y;ENSG00000134504:ENST00000580191:exon2:c.G10T:p.D4Y;	0.999792050225298	0.956
18	24081214	C	G	18	26501250	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon2:c.G1810C:p.D604H;KCTD1:NM_001258222:exon2:c.G10C:p.D4H;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon2:c.G1810C:p.D604H;ENSG00000134504:ENST00000580191:exon2:c.G10C:p.D4H;	0.99971017356351	0.92
18	24081214	C	T	18	26501250	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon2:c.G1810A:p.D604N;KCTD1:NM_001258222:exon2:c.G10A:p.D4N;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon2:c.G1810A:p.D604N;ENSG00000134504:ENST00000580191:exon2:c.G10A:p.D4N;	0.996565315070332	0.888
18	24081215	C	A	18	26501251	y	y	splicing	KCTD1(NM_001142730:exon3:c.1810-1G>T;NM_001258222:exon3:c.10-1G>T)	.	.	splicing	ENSG00000134504(ENST00000417602:exon3:c.1810-1G>T;ENST00000580191:exon3:c.10-1G>T)	.	.	0.999989072007339	0.934
18	24081215	C	G	18	26501251	y	y	splicing	KCTD1(NM_001142730:exon3:c.1810-1G>C;NM_001258222:exon3:c.10-1G>C)	.	.	splicing	ENSG00000134504(ENST00000417602:exon3:c.1810-1G>C;ENST00000580191:exon3:c.10-1G>C)	.	.	0.999989072007339	0.934
18	24081215	C	T	18	26501251	y	y	splicing	KCTD1(NM_001142730:exon3:c.1810-1G>A;NM_001258222:exon3:c.10-1G>A)	.	.	splicing	ENSG00000134504(ENST00000417602:exon3:c.1810-1G>A;ENST00000580191:exon3:c.10-1G>A)	.	.	0.999989072007339	0.934
18	24081216	T	A	18	26501252	y	y	splicing	KCTD1(NM_001142730:exon3:c.1810-2A>T;NM_001258222:exon3:c.10-2A>T)	.	.	splicing	ENSG00000134504(ENST00000417602:exon3:c.1810-2A>T;ENST00000580191:exon3:c.10-2A>T)	.	.	0.999988247793601	0.93
18	24081216	T	C	18	26501252	y	y	splicing	KCTD1(NM_001142730:exon3:c.1810-2A>G;NM_001258222:exon3:c.10-2A>G)	.	.	splicing	ENSG00000134504(ENST00000417602:exon3:c.1810-2A>G;ENST00000580191:exon3:c.10-2A>G)	.	.	0.999988247793601	0.93
18	24081216	T	G	18	26501252	y	y	splicing	KCTD1(NM_001142730:exon3:c.1810-2A>C;NM_001258222:exon3:c.10-2A>C)	.	.	splicing	ENSG00000134504(ENST00000417602:exon3:c.1810-2A>C;ENST00000580191:exon3:c.10-2A>C)	.	.	0.999988247793601	0.93
18	24081217	A	C	18	26501253	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.998689362453656	0.804
18	24081217	A	G	18	26501253	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.64902490833243E-5	0.004
18	24081217	A	T	18	26501253	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0466939775522513	0.306
18	24081218	C	A	18	26501254	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.1504845509112E-4	0.006
18	24081218	C	G	18	26501254	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.1328208821764E-4	0.018
18	24081218	C	T	18	26501254	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.64084297602577E-4	0.016
18	24081219	A	C	18	26501255	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00268982894415151	0.162
18	24081219	A	G	18	26501255	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.84655804644619E-4	0.016
18	24081219	A	T	18	26501255	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.996781904303311	0.738
18	24081220	G	A	18	26501256	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00860580427537606	0.08
18	24081220	G	C	18	26501256	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.132820371008276	0.402
18	24081220	G	T	18	26501256	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.267504343928341	0.406
18	24081221	A	C	18	26501257	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00516474986494859	0.1
18	24081221	A	G	18	26501257	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.65233536565959E-4	0.01
18	24081221	A	T	18	26501257	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00833698584049971	0.136
18	24081222	G	A	18	26501258	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00237352839906284	0.108
18	24081222	G	C	18	26501258	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0109939861810524	0.18
18	24081222	G	T	18	26501258	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00943719859828307	0.166
18	24081223	A	C	18	26501259	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.515796562521929	0.566
18	24081223	A	G	18	26501259	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.222727593989006	0.422
18	24081223	A	T	18	26501259	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.593315778690192	0.566
18	24081224	G	A	18	26501260	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0479024489141597	0.406
18	24081224	G	C	18	26501260	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0288501324133247	0.286
18	24081224	G	T	18	26501260	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0354410487971119	0.29
18	24081225	A	C	18	26501261	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.99993175174261	0.926
18	24081225	A	G	18	26501261	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.567498001405637	0.526
18	24081225	A	T	18	26501261	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.879854354639205	0.736
18	24081226	T	A	18	26501262	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.21112725553435E-5	0.002
18	24081226	T	C	18	26501262	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	7.76057891849587E-5	0.05
18	24081226	T	G	18	26501262	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.91603186877589E-5	0.006
18	24126684	T	A	18	26546720	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00491178609862307	0.024
18	24126684	T	C	18	26546720	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0036266505869092	0.01
18	24126684	T	G	18	26546720	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00603692215396914	0.02
18	24126685	T	A	18	26546721	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.65305303543323E-4	0.016
18	24126685	T	C	18	26546721	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.50675844754874E-4	0.004
18	24126685	T	G	18	26546721	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.55984662119299E-5	0.004
18	24126686	G	A	18	26546722	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00307017386500737	0.034
18	24126686	G	C	18	26546722	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00368823417568062	0.094
18	24126686	G	T	18	26546722	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0107645042390524	0.124
18	24126687	G	A	18	26546723	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0736989929094984	0.258
18	24126687	G	C	18	26546723	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00126330534237302	0.07
18	24126687	G	T	18	26546723	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00969567508792284	0.16
18	24126688	T	A	18	26546724	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.883981133378347	0.636
18	24126688	T	C	18	26546724	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.903911373436969	0.618
18	24126688	T	G	18	26546724	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.756516739106164	0.62
18	24126689	T	A	18	26546725	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999913170977757	0.932
18	24126689	T	C	18	26546725	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.953606010262134	0.794
18	24126689	T	G	18	26546725	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.999851534930401	0.97
18	24126690	A	C	18	26546726	y	y	splicing	KCTD1(NM_001142730:exon2:c.1809+2T>G)	.	.	splicing	ENSG00000134504(ENST00000417602:exon2:c.1809+2T>G)	.	.	0.999825526487965	0.912
18	24126690	A	G	18	26546726	y	y	splicing	KCTD1(NM_001142730:exon2:c.1809+2T>C)	.	.	splicing	ENSG00000134504(ENST00000417602:exon2:c.1809+2T>C)	.	.	0.858520840215868	0.54
18	24126690	A	T	18	26546726	y	y	splicing	KCTD1(NM_001142730:exon2:c.1809+2T>A)	.	.	splicing	ENSG00000134504(ENST00000417602:exon2:c.1809+2T>A)	.	.	0.999860244802013	0.91
18	24126691	C	A	18	26546727	y	y	splicing	KCTD1(NM_001142730:exon2:c.1809+1G>T)	.	.	splicing	ENSG00000134504(ENST00000417602:exon2:c.1809+1G>T)	.	.	0.99995545544995	0.932
18	24126691	C	G	18	26546727	y	y	splicing	KCTD1(NM_001142730:exon2:c.1809+1G>C)	.	.	splicing	ENSG00000134504(ENST00000417602:exon2:c.1809+1G>C)	.	.	0.99995545544995	0.932
18	24126691	C	T	18	26546727	y	y	splicing	KCTD1(NM_001142730:exon2:c.1809+1G>A)	.	.	splicing	ENSG00000134504(ENST00000417602:exon2:c.1809+1G>A)	.	.	0.999975938198618	0.932
18	24126692	C	A	18	26546728	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.G1809T:p.Q603H;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon1:c.G1809T:p.Q603H;	0.999633421258184	0.96
18	24126692	C	G	18	26546728	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.G1809C:p.Q603H;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon1:c.G1809C:p.Q603H;	0.999982767891835	0.994
18	24126692	C	T	18	26546728	y	y	exonic	KCTD1	synonymous SNV	KCTD1:NM_001142730:exon1:c.G1809A:p.Q603Q;	exonic	ENSG00000134504	synonymous SNV	ENSG00000134504:ENST00000417602:exon1:c.G1809A:p.Q603Q;	0.999964502676095	0.996
18	24126693	T	A	18	26546729	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.A1808T:p.Q603L;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon1:c.A1808T:p.Q603L;	0.954078103098356	0.712
18	24126693	T	C	18	26546729	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.A1808G:p.Q603R;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon1:c.A1808G:p.Q603R;	0.852018701624686	0.628
18	24126693	T	G	18	26546729	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.A1808C:p.Q603P;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon1:c.A1808C:p.Q603P;	0.831648981718146	0.592
18	24126694	G	A	18	26546730	y	y	exonic	KCTD1	stopgain SNV	KCTD1:NM_001142730:exon1:c.C1807T:p.Q603X;	exonic	ENSG00000134504	stopgain SNV	ENSG00000134504:ENST00000417602:exon1:c.C1807T:p.Q603X;	0.999540579515197	0.956
18	24126694	G	C	18	26546730	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.C1807G:p.Q603E;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon1:c.C1807G:p.Q603E;	0.0258134395229412	0.112
18	24126694	G	T	18	26546730	y	y	exonic	KCTD1	nonsynonymous SNV	KCTD1:NM_001142730:exon1:c.C1807A:p.Q603K;	exonic	ENSG00000134504	nonsynonymous SNV	ENSG00000134504:ENST00000417602:exon1:c.C1807A:p.Q603K;	0.0150855374223899	0.166
18	24128847	C	A	18	26548883	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.120548406025961	0.29
18	24128847	C	G	18	26548883	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.047625670214182	0.168
18	24128847	C	T	18	26548883	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.120548406025961	0.392
18	24128848	A	C	18	26548884	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.8547691718422E-4	0.01
18	24128848	A	G	18	26548884	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.8547691718422E-4	0.01
18	24128848	A	T	18	26548884	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.30421681205042E-4	0.032
18	24128849	A	C	18	26548885	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0232939111196247	0.34
18	24128849	A	G	18	26548885	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0232939111196247	0.336
18	24128849	A	T	18	26548885	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0604767327262834	0.374
18	24128850	C	A	18	26548886	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.047625670214182	0.19
18	24128850	C	G	18	26548886	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0260492597107435	0.146
18	24128850	C	T	18	26548886	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.120548406025961	0.296
18	24128851	T	A	18	26548887	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0604767327262834	0.374
18	24128851	T	C	18	26548887	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0232939111196247	0.336
18	24128851	T	G	18	26548887	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0232939111196247	0.338
18	24128852	T	A	18	26548888	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0604767327262834	0.374
18	24128852	T	C	18	26548888	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0232939111196247	0.316
18	24128852	T	G	18	26548888	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.0232939111196247	0.32
18	24128853	A	C	18	26548889	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	0.399311545579026	0.624
18	24128853	A	G	18	26548889	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	0.399311545579026	0.624
18	24128853	A	T	18	26548889	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	0.438455591420921	0.642
18	24128854	C	A	18	26548890	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	0.863584668308777	0.774
18	24128854	C	G	18	26548890	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	0.863584668308777	0.776
18	24128854	C	T	18	26548890	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	0.863584668308777	0.772
18	24128855	C	A	18	26548891	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	0.187722242487011	0.52
18	24128855	C	G	18	26548891	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	0.120548406025961	0.43
18	24128855	C	T	18	26548891	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	0.301928734520193	0.496
18	24128856	C	A	18	26548892	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.34241895422928E-4	0.0
18	24128856	C	G	18	26548892	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.34241895422928E-4	0.006
18	24128856	C	T	18	26548892	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.34241895422928E-4	0.0
18	24128857	T	A	18	26548893	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	0.0604767327262834	0.384
18	24128857	T	C	18	26548893	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	0.042146825905106	0.384
18	24128857	T	G	18	26548893	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	0.042146825905106	0.406
18	24129685	A	C	18	26549721	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.03610275064343E-4	0.054
18	24129685	A	G	18	26549721	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.03610275064343E-4	0.054
18	24129685	A	T	18	26549721	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.03610275064343E-4	0.054
18	24129686	C	A	18	26549722	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.6128894829304E-5	0.0
18	24129686	C	G	18	26549722	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.6128894829304E-5	0.0
18	24129686	C	T	18	26549722	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.6128894829304E-5	0.0
18	24129687	T	A	18	26549723	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.11159464097565E-5	0.002
18	24129687	T	C	18	26549723	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.39529611572298E-5	0.002
18	24129687	T	G	18	26549723	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.39529611572298E-5	0.002
18	24129688	C	A	18	26549724	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.35115461238441E-4	0.0
18	24129688	C	G	18	26549724	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.80650664972837E-4	0.0
18	24129688	C	T	18	26549724	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.35115461238441E-4	0.0
18	24129689	T	A	18	26549725	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.12689098276539E-4	0.018
18	24129689	T	C	18	26549725	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.28931909661929E-4	0.018
18	24129689	T	G	18	26549725	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.28931909661929E-4	0.018
18	24129690	C	A	18	26549726	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.32510510707312E-5	0.0
18	24129690	C	G	18	26549726	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.1548255067557E-5	0.0
18	24129690	C	T	18	26549726	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.32510510707312E-5	0.0
18	24129691	A	C	18	26549727	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.05130521861172E-5	0.0
18	24129691	A	G	18	26549727	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.05130521861172E-5	0.0
18	24129691	A	T	18	26549727	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.10275622159801E-5	0.002
18	24129692	C	A	18	26549728	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.45031001704681E-4	0.012
18	24129692	C	G	18	26549728	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.45031001704681E-4	0.002
18	24129692	C	T	18	26549728	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.32025213120175E-4	0.0
18	24129693	T	A	18	26549729	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.94081116995207E-4	0.002
18	24129693	T	C	18	26549729	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	4.35658515895286E-4	0.002
18	24129693	T	G	18	26549729	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	4.35658515895286E-4	0.002
18	24129694	C	A	18	26549730	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	5.4518697930878E-5	0.0
18	24129694	C	G	18	26549730	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	5.4518697930878E-5	0.0
18	24129694	C	T	18	26549730	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	5.4518697930878E-5	0.004
18	24129695	A	C	18	26549731	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	1.46309634441211E-4	0.008
18	24129695	A	G	18	26549731	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	1.46309634441211E-4	0.008
18	24129695	A	T	18	26549731	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	1.71267056476718E-4	0.008
18	24209103	T	A	18	26629139	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.32341439655945E-5	0.004
18	24209103	T	C	18	26629139	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.32341439655945E-5	0.004
18	24209103	T	G	18	26629139	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.32341439655945E-5	0.004
18	24209104	T	A	18	26629140	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00184422796046697	0.024
18	24209104	T	C	18	26629140	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00159307416553706	0.02
18	24209104	T	G	18	26629140	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00159307416553706	0.02
18	24209105	T	A	18	26629141	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.68140984436469E-5	0.0
18	24209105	T	C	18	26629141	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.26007143607885E-5	0.018
18	24209105	T	G	18	26629141	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.26007143607885E-5	0.028
18	24209106	C	A	18	26629142	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00250779677950732	0.02
18	24209106	C	G	18	26629142	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00182105426417556	0.02
18	24209106	C	T	18	26629142	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	0.00250779677950732	0.012
18	24209107	T	A	18	26629143	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.50312366030491E-5	0.0
18	24209107	T	C	18	26629143	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.50312366030491E-5	0.0
18	24209107	T	G	18	26629143	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.50312366030491E-5	0.0
18	24209108	T	A	18	26629144	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.90866578596279E-5	0.0
18	24209108	T	C	18	26629144	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.80109675654916E-5	0.0
18	24209108	T	G	18	26629144	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.80109675654916E-5	0.0
18	24209109	A	C	18	26629145	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.33984070840462E-5	0.0
18	24209109	A	G	18	26629145	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.33984070840462E-5	0.0
18	24209109	A	T	18	26629145	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.33984070840462E-5	0.0
18	24209110	C	A	18	26629146	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	6.08692400722682E-5	0.0
18	24209110	C	G	18	26629146	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	6.08692400722682E-5	0.0
18	24209110	C	T	18	26629146	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	6.08692400722682E-5	0.0
18	24209111	T	A	18	26629147	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	1.86764315709017E-5	0.0
18	24209111	T	C	18	26629147	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.39457982047225E-5	0.0
18	24209111	T	G	18	26629147	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.39457982047225E-5	0.0
18	24209112	T	A	18	26629148	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.12051756480288E-5	0.0
18	24209112	T	C	18	26629148	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.12051756480288E-5	0.0
18	24209112	T	G	18	26629148	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.12051756480288E-5	0.0
18	24209113	T	A	18	26629149	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	5.69439264402225E-5	0.002
18	24209113	T	C	18	26629149	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	6.7898797240203E-5	0.002
18	24209113	T	G	18	26629149	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	1.99153316237132E-5	0.004
18	24209200	A	C	18	26629236	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	8.50861351865397E-5	0.0
18	24209200	A	G	18	26629236	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	8.50861351865397E-5	0.0
18	24209200	A	T	18	26629236	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.39083642728588E-5	0.0
18	24209201	G	A	18	26629237	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.27237026149931E-5	0.0
18	24209201	G	C	18	26629237	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	1.23990001900786E-4	0.002
18	24209201	G	T	18	26629237	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.27237026149931E-5	0.004
18	24209202	C	A	18	26629238	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.57651167303366E-5	0.034
18	24209202	C	G	18	26629238	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	2.15772275900853E-5	0.034
18	24209202	C	T	18	26629238	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.57651167303366E-5	0.036
18	24209203	T	A	18	26629239	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.99153316237132E-5	0.002
18	24209203	T	C	18	26629239	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.99153316237132E-5	0.002
18	24209203	T	G	18	26629239	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.99153316237132E-5	0.002
18	24209204	G	A	18	26629240	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	2.05567792764038E-5	0.004
18	24209204	G	C	18	26629240	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	2.05567792764038E-5	0.006
18	24209204	G	T	18	26629240	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	2.05567792764038E-5	0.004
18	24209205	T	A	18	26629241	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	4.09672030971394E-5	0.002
18	24209205	T	C	18	26629241	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	2.25395666728411E-5	0.002
18	24209205	T	G	18	26629241	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	2.25395666728411E-5	0.002
18	24209206	A	C	18	26629242	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.2886448328189E-5	0.0
18	24209206	A	G	18	26629242	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.2886448328189E-5	0.0
18	24209206	A	T	18	26629242	y	y	intronic	KCTD1	.	.	UTR5	ENSG00000134504	.	.	5.97728621093963E-5	0.0
18	24209207	A	C	18	26629243	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.78864525412067E-5	0.0
18	24209207	A	G	18	26629243	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.78864525412067E-5	0.0
18	24209207	A	T	18	26629243	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.08802802279601E-5	0.004
18	24209208	A	C	18	26629244	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.39765988491657E-5	0.06
18	24209208	A	G	18	26629244	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	4.39765988491657E-5	0.096
18	24209208	A	T	18	26629244	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.2886448328189E-5	0.0
18	24209209	A	C	18	26629245	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.89978983859627E-6	0.0
18	24209209	A	G	18	26629245	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.89978983859627E-6	0.0
18	24209209	A	T	18	26629245	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.02383299655812E-6	0.0
18	24209210	G	A	18	26629246	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.31929338280547E-5	0.0
18	24209210	G	C	18	26629246	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.07620641825897E-5	0.0
18	24209210	G	T	18	26629246	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.07620641825897E-5	0.0
18	24209211	G	A	18	26629247	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	7.34280463342776E-4	0.024
18	24209211	G	C	18	26629247	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.81666394918856E-4	0.04
18	24209211	G	T	18	26629247	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.81666394918856E-4	0.06
18	24209212	A	C	18	26629248	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.46004206284423E-5	0.0
18	24209212	A	G	18	26629248	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.46004206284423E-5	0.0
18	24209212	A	T	18	26629248	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.46004206284423E-5	0.0
18	24209213	G	A	18	26629249	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.99153316237132E-5	0.002
18	24209213	G	C	18	26629249	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.99153316237132E-5	0.002
18	24209213	G	T	18	26629249	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.99153316237132E-5	0.002
18	24220267	C	A	18	26640303	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.08378557604853E-5	0.002
18	24220267	C	G	18	26640303	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.08378557604853E-5	0.0
18	24220267	C	T	18	26640303	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.67406935090243E-5	0.0
18	24220268	C	A	18	26640304	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.45277156108894E-5	0.0
18	24220268	C	G	18	26640304	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.45277156108894E-5	0.0
18	24220268	C	T	18	26640304	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	2.45277156108894E-5	0.0
18	24220269	T	A	18	26640305	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	5.10250552304391E-5	0.002
18	24220269	T	C	18	26640305	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.30338091304305E-5	0.002
18	24220269	T	G	18	26640305	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	3.30338091304305E-5	0.002
18	24220270	C	A	18	26640306	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.08378557604853E-5	0.0
18	24220270	C	G	18	26640306	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.08378557604853E-5	0.0
18	24220270	C	T	18	26640306	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	1.08378557604853E-5	0.0
18	24220271	C	A	18	26640307	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.19654958573966E-5	0.022
18	24220271	C	G	18	26640307	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.19654958573966E-5	0.022
18	24220271	C	T	18	26640307	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.57123356397867E-5	0.016
18	24220272	C	A	18	26640308	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.19654958573966E-5	0.038
18	24220272	C	G	18	26640308	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	6.19654958573966E-5	0.022
18	24220272	C	T	18	26640308	y	y	intronic	KCTD1	.	.	intronic	ENSG00000134504	.	.	9.57123356397867E-5	0.016
18	24220273	A	C	18	26640309	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.73686617846189E-5	0.004
18	24220273	A	G	18	26640309	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.73686617846189E-5	0.004
18	24220273	A	T	18	26640309	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	1.73686617846189E-5	0.004
18	24220274	C	A	18	26640310	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	6.19654958573966E-5	0.02
18	24220274	C	G	18	26640310	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	6.19654958573966E-5	0.02
18	24220274	C	T	18	26640310	y	y	splicing	KCTD1	.	.	splicing	ENSG00000134504	.	.	6.19654958573966E-5	0.02
18	24220275	C	A	18	26640311	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.57123356397867E-5	0.01
18	24220275	C	G	18	26640311	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.57123356397867E-5	0.01
18	24220275	C	T	18	26640311	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	9.57123356397867E-5	0.01
18	24220276	T	A	18	26640312	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	2.19348260541807E-5	0.0
18	24220276	T	C	18	26640312	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	1.42005417025298E-5	0.0
18	24220276	T	G	18	26640312	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	1.42005417025298E-5	0.0
18	24220277	G	A	18	26640313	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	3.78864525412067E-5	0.0
18	24220277	G	C	18	26640313	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	2.45277156108894E-5	0.0
18	24220277	G	T	18	26640313	y	y	UTR5	KCTD1	.	.	UTR5	ENSG00000134504	.	.	2.45277156108894E-5	0.0
18	24436452	A	C	18	26856488	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon5:c.T695G:p.I232R;AQP4:NM_004028:exon4:c.T629G:p.I210R;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon4:c.T629G:p.I210R;ENSG00000171885:ENST00000383168:exon5:c.T695G:p.I232R;ENSG00000171885:ENST00000440832:exon5:c.T629G:p.I210R;	0.420420866942049	0.616
18	24436452	A	G	18	26856488	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon5:c.T695C:p.I232T;AQP4:NM_004028:exon4:c.T629C:p.I210T;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon4:c.T629C:p.I210T;ENSG00000171885:ENST00000383168:exon5:c.T695C:p.I232T;ENSG00000171885:ENST00000440832:exon5:c.T629C:p.I210T;	0.538054811272456	0.56
18	24436452	A	T	18	26856488	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon5:c.T695A:p.I232K;AQP4:NM_004028:exon4:c.T629A:p.I210K;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon4:c.T629A:p.I210K;ENSG00000171885:ENST00000383168:exon5:c.T695A:p.I232K;ENSG00000171885:ENST00000440832:exon5:c.T629A:p.I210K;	0.420420866942049	0.59
18	24436453	T	A	18	26856489	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon5:c.A694T:p.I232L;AQP4:NM_004028:exon4:c.A628T:p.I210L;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon4:c.A628T:p.I210L;ENSG00000171885:ENST00000383168:exon5:c.A694T:p.I232L;ENSG00000171885:ENST00000440832:exon5:c.A628T:p.I210L;	0.0234404477979639	0.138
18	24436453	T	C	18	26856489	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon5:c.A694G:p.I232V;AQP4:NM_004028:exon4:c.A628G:p.I210V;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon4:c.A628G:p.I210V;ENSG00000171885:ENST00000383168:exon5:c.A694G:p.I232V;ENSG00000171885:ENST00000440832:exon5:c.A628G:p.I210V;	1.24353149159902E-5	0.002
18	24436453	T	G	18	26856489	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon5:c.A694C:p.I232L;AQP4:NM_004028:exon4:c.A628C:p.I210L;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon4:c.A628C:p.I210L;ENSG00000171885:ENST00000383168:exon5:c.A694C:p.I232L;ENSG00000171885:ENST00000440832:exon5:c.A628C:p.I210L;	0.0221029150905537	0.192
18	24436454	C	A	18	26856490	y	y	splicing	AQP4(NM_001650:exon6:c.694-1G>T;NM_004028:exon5:c.628-1G>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon6:c.694-1G>T;ENST00000581374:exon5:c.628-1G>T;ENST00000440832:exon6:c.628-1G>T)	.	.	0.999990361384395	0.936
18	24436454	C	G	18	26856490	y	y	splicing	AQP4(NM_001650:exon6:c.694-1G>C;NM_004028:exon5:c.628-1G>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon6:c.694-1G>C;ENST00000581374:exon5:c.628-1G>C;ENST00000440832:exon6:c.628-1G>C)	.	.	0.999990361384395	0.936
18	24436454	C	T	18	26856490	y	y	splicing	AQP4(NM_001650:exon6:c.694-1G>A;NM_004028:exon5:c.628-1G>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon6:c.694-1G>A;ENST00000581374:exon5:c.628-1G>A;ENST00000440832:exon6:c.628-1G>A)	.	.	0.999990361384395	0.936
18	24436455	T	A	18	26856491	y	y	splicing	AQP4(NM_001650:exon6:c.694-2A>T;NM_004028:exon5:c.628-2A>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon6:c.694-2A>T;ENST00000581374:exon5:c.628-2A>T;ENST00000440832:exon6:c.628-2A>T)	.	.	0.999988247793601	0.93
18	24436455	T	C	18	26856491	y	y	splicing	AQP4(NM_001650:exon6:c.694-2A>G;NM_004028:exon5:c.628-2A>G)	.	.	splicing	ENSG00000171885(ENST00000383168:exon6:c.694-2A>G;ENST00000581374:exon5:c.628-2A>G;ENST00000440832:exon6:c.628-2A>G)	.	.	0.999988247793601	0.93
18	24436455	T	G	18	26856491	y	y	splicing	AQP4(NM_001650:exon6:c.694-2A>C;NM_004028:exon5:c.628-2A>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon6:c.694-2A>C;ENST00000581374:exon5:c.628-2A>C;ENST00000440832:exon6:c.628-2A>C)	.	.	0.999988247793601	0.93
18	24436456	A	C	18	26856492	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.967103332746555	0.684
18	24436456	A	G	18	26856492	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.83030423796377E-5	0.006
18	24436456	A	T	18	26856492	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0041342166439524	0.16
18	24436457	A	C	18	26856493	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.97842353081551E-5	0.0
18	24436457	A	G	18	26856493	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.08982189175497E-5	0.0
18	24436457	A	T	18	26856493	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.75325174537122E-5	0.0
18	24436458	G	A	18	26856494	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.80286521838522E-5	0.0
18	24436458	G	C	18	26856494	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.41809585464192E-4	0.134
18	24436458	G	T	18	26856494	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.87411379305459E-4	0.106
18	24436459	G	A	18	26856495	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.51326240845633E-4	0.014
18	24436459	G	C	18	26856495	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00169294438293159	0.168
18	24436459	G	T	18	26856495	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00201707425818864	0.166
18	24436460	A	C	18	26856496	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.94235726093512E-5	0.012
18	24436460	A	G	18	26856496	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.31557898521552E-5	0.0
18	24436460	A	T	18	26856496	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.36908092974691E-4	0.008
18	24436461	A	C	18	26856497	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.62520216460814E-5	0.05
18	24436461	A	G	18	26856497	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.09616915750894E-4	0.006
18	24436461	A	T	18	26856497	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.91418161422077E-4	0.066
18	24436462	A	C	18	26856498	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.93370111485174E-4	0.088
18	24436462	A	G	18	26856498	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.24919992063633E-4	0.02
18	24436462	A	T	18	26856498	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00126822098413696	0.088
18	24436463	A	C	18	26856499	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.946536480572E-4	0.206
18	24436463	A	G	18	26856499	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.85135486382899E-4	0.018
18	24436463	A	T	18	26856499	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.23825666795657E-4	0.166
18	24436464	G	A	18	26856500	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.87773437329944E-4	0.108
18	24436464	G	C	18	26856500	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00202393041665487	0.146
18	24436464	G	T	18	26856500	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0110957598407306	0.246
18	24436465	A	C	18	26856501	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999610980546569	0.938
18	24436465	A	G	18	26856501	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.32538625116329E-4	0.022
18	24436465	A	T	18	26856501	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.43946775407622E-4	0.156
18	24440728	A	C	18	26860764	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00139997078228889	0.084
18	24440728	A	G	18	26860764	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00150179961314702	0.194
18	24440728	A	T	18	26860764	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.91687602246652E-4	0.092
18	24440729	G	A	18	26860765	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.47837334333615E-5	0.088
18	24440729	G	C	18	26860765	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.31423902078739E-5	0.016
18	24440729	G	T	18	26860765	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.63931208223726E-4	0.01
18	24440730	G	A	18	26860766	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.79818346785309E-5	0.014
18	24440730	G	C	18	26860766	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.01446888077338E-5	0.018
18	24440730	G	T	18	26860766	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.88012455768082E-4	0.04
18	24440731	G	A	18	26860767	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.9248127545593E-4	0.056
18	24440731	G	C	18	26860767	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.43796229758094E-4	0.082
18	24440731	G	T	18	26860767	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.25928839681187E-4	0.198
18	24440732	T	A	18	26860768	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999921674413416	0.936
18	24440732	T	C	18	26860768	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999976615506181	0.968
18	24440732	T	G	18	26860768	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999960160014208	0.936
18	24440733	T	A	18	26860769	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999954819494384	0.974
18	24440733	T	C	18	26860769	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999744193391017	0.962
18	24440733	T	G	18	26860769	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999951175739082	0.964
18	24440734	A	C	18	26860770	y	y	splicing	AQP4(NM_001650:exon5:c.693+2T>G;NM_004028:exon4:c.627+2T>G)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.693+2T>G;ENST00000581374:exon4:c.627+2T>G;ENST00000440832:exon5:c.627+2T>G)	.	.	0.999992007541056	0.938
18	24440734	A	G	18	26860770	y	y	splicing	AQP4(NM_001650:exon5:c.693+2T>C;NM_004028:exon4:c.627+2T>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.693+2T>C;ENST00000581374:exon4:c.627+2T>C;ENST00000440832:exon5:c.627+2T>C)	.	.	0.999857715401408	0.878
18	24440734	A	T	18	26860770	y	y	splicing	AQP4(NM_001650:exon5:c.693+2T>A;NM_004028:exon4:c.627+2T>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.693+2T>A;ENST00000581374:exon4:c.627+2T>A;ENST00000440832:exon5:c.627+2T>A)	.	.	0.999992007541056	0.938
18	24440735	C	A	18	26860771	y	y	splicing	AQP4(NM_001650:exon5:c.693+1G>T;NM_004028:exon4:c.627+1G>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.693+1G>T;ENST00000581374:exon4:c.627+1G>T;ENST00000440832:exon5:c.627+1G>T)	.	.	0.999993444959628	0.936
18	24440735	C	G	18	26860771	y	y	splicing	AQP4(NM_001650:exon5:c.693+1G>C;NM_004028:exon4:c.627+1G>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.693+1G>C;ENST00000581374:exon4:c.627+1G>C;ENST00000440832:exon5:c.627+1G>C)	.	.	0.999993444959628	0.936
18	24440735	C	T	18	26860771	y	y	splicing	AQP4(NM_001650:exon5:c.693+1G>A;NM_004028:exon4:c.627+1G>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.693+1G>A;ENST00000581374:exon4:c.627+1G>A;ENST00000440832:exon5:c.627+1G>A)	.	.	0.999993444959628	0.936
18	24440736	C	A	18	26860772	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.G693T:p.W231C;AQP4:NM_004028:exon3:c.G627T:p.W209C;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.G627T:p.W209C;ENSG00000171885:ENST00000383168:exon4:c.G693T:p.W231C;ENSG00000171885:ENST00000440832:exon4:c.G627T:p.W209C;	0.999990831506958	1.0
18	24440736	C	G	18	26860772	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.G693C:p.W231C;AQP4:NM_004028:exon3:c.G627C:p.W209C;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.G627C:p.W209C;ENSG00000171885:ENST00000383168:exon4:c.G693C:p.W231C;ENSG00000171885:ENST00000440832:exon4:c.G627C:p.W209C;	0.999998143823284	0.996
18	24440736	C	T	18	26860772	y	y	exonic	AQP4	stopgain SNV	AQP4:NM_001650:exon4:c.G693A:p.W231X;AQP4:NM_004028:exon3:c.G627A:p.W209X;	exonic	ENSG00000171885	stopgain SNV	ENSG00000171885:ENST00000581374:exon3:c.G627A:p.W209X;ENSG00000171885:ENST00000383168:exon4:c.G693A:p.W231X;ENSG00000171885:ENST00000440832:exon4:c.G627A:p.W209X;	0.999998024607976	0.996
18	24440737	C	A	18	26860773	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.G692T:p.W231L;AQP4:NM_004028:exon3:c.G626T:p.W209L;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.G626T:p.W209L;ENSG00000171885:ENST00000383168:exon4:c.G692T:p.W231L;ENSG00000171885:ENST00000440832:exon4:c.G626T:p.W209L;	0.991027285774535	0.884
18	24440737	C	G	18	26860773	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.G692C:p.W231S;AQP4:NM_004028:exon3:c.G626C:p.W209S;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.G626C:p.W209S;ENSG00000171885:ENST00000383168:exon4:c.G692C:p.W231S;ENSG00000171885:ENST00000440832:exon4:c.G626C:p.W209S;	0.994105608119063	0.896
18	24440737	C	T	18	26860773	y	y	exonic	AQP4	stopgain SNV	AQP4:NM_001650:exon4:c.G692A:p.W231X;AQP4:NM_004028:exon3:c.G626A:p.W209X;	exonic	ENSG00000171885	stopgain SNV	ENSG00000171885:ENST00000581374:exon3:c.G626A:p.W209X;ENSG00000171885:ENST00000383168:exon4:c.G692A:p.W231X;ENSG00000171885:ENST00000440832:exon4:c.G626A:p.W209X;	0.979057912346748	0.712
18	24440738	A	C	18	26860774	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.T691G:p.W231G;AQP4:NM_004028:exon3:c.T625G:p.W209G;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.T625G:p.W209G;ENSG00000171885:ENST00000383168:exon4:c.T691G:p.W231G;ENSG00000171885:ENST00000440832:exon4:c.T625G:p.W209G;	0.841015705850705	0.708
18	24440738	A	G	18	26860774	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.T691C:p.W231R;AQP4:NM_004028:exon3:c.T625C:p.W209R;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.T625C:p.W209R;ENSG00000171885:ENST00000383168:exon4:c.T691C:p.W231R;ENSG00000171885:ENST00000440832:exon4:c.T625C:p.W209R;	0.812324162758677	0.692
18	24440738	A	T	18	26860774	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.T691A:p.W231R;AQP4:NM_004028:exon3:c.T625A:p.W209R;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.T625A:p.W209R;ENSG00000171885:ENST00000383168:exon4:c.T691A:p.W231R;ENSG00000171885:ENST00000440832:exon4:c.T625A:p.W209R;	0.809835865261254	0.754
18	24440815	A	C	18	26860851	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.T614G:p.I205S;AQP4:NM_004028:exon3:c.T548G:p.I183S;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.T548G:p.I183S;ENSG00000171885:ENST00000578776:exon4:c.T491G:p.I164S;ENSG00000171885:ENST00000383168:exon4:c.T614G:p.I205S;ENSG00000171885:ENST00000440832:exon4:c.T548G:p.I183S;	0.55099164028665	0.634
18	24440815	A	G	18	26860851	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.T614C:p.I205T;AQP4:NM_004028:exon3:c.T548C:p.I183T;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.T548C:p.I183T;ENSG00000171885:ENST00000578776:exon4:c.T491C:p.I164T;ENSG00000171885:ENST00000383168:exon4:c.T614C:p.I205T;ENSG00000171885:ENST00000440832:exon4:c.T548C:p.I183T;	0.469208789744659	0.64
18	24440815	A	T	18	26860851	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.T614A:p.I205N;AQP4:NM_004028:exon3:c.T548A:p.I183N;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.T548A:p.I183N;ENSG00000171885:ENST00000578776:exon4:c.T491A:p.I164N;ENSG00000171885:ENST00000383168:exon4:c.T614A:p.I205N;ENSG00000171885:ENST00000440832:exon4:c.T548A:p.I183N;	0.563704758202013	0.638
18	24440816	T	A	18	26860852	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.A613T:p.I205F;AQP4:NM_004028:exon3:c.A547T:p.I183F;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.A547T:p.I183F;ENSG00000171885:ENST00000578776:exon4:c.A490T:p.I164F;ENSG00000171885:ENST00000383168:exon4:c.A613T:p.I205F;ENSG00000171885:ENST00000440832:exon4:c.A547T:p.I183F;	0.572606727572246	0.612
18	24440816	T	C	18	26860852	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.A613G:p.I205V;AQP4:NM_004028:exon3:c.A547G:p.I183V;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.A547G:p.I183V;ENSG00000171885:ENST00000578776:exon4:c.A490G:p.I164V;ENSG00000171885:ENST00000383168:exon4:c.A613G:p.I205V;ENSG00000171885:ENST00000440832:exon4:c.A547G:p.I183V;	0.701500988212742	0.61
18	24440816	T	G	18	26860852	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon4:c.A613C:p.I205L;AQP4:NM_004028:exon3:c.A547C:p.I183L;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon3:c.A547C:p.I183L;ENSG00000171885:ENST00000578776:exon4:c.A490C:p.I164L;ENSG00000171885:ENST00000383168:exon4:c.A613C:p.I205L;ENSG00000171885:ENST00000440832:exon4:c.A547C:p.I183L;	0.562008506735568	0.722
18	24440817	C	A	18	26860853	y	y	splicing	AQP4(NM_001650:exon5:c.613-1G>T;NM_004028:exon4:c.547-1G>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.613-1G>T;ENST00000581374:exon4:c.547-1G>T;ENST00000440832:exon5:c.547-1G>T;ENST00000578776:exon5:c.490-1G>T)	.	.	0.999990361384395	0.938
18	24440817	C	G	18	26860853	y	y	splicing	AQP4(NM_001650:exon5:c.613-1G>C;NM_004028:exon4:c.547-1G>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.613-1G>C;ENST00000581374:exon4:c.547-1G>C;ENST00000440832:exon5:c.547-1G>C;ENST00000578776:exon5:c.490-1G>C)	.	.	0.999990361384395	0.938
18	24440817	C	T	18	26860853	y	y	splicing	AQP4(NM_001650:exon5:c.613-1G>A;NM_004028:exon4:c.547-1G>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.613-1G>A;ENST00000581374:exon4:c.547-1G>A;ENST00000440832:exon5:c.547-1G>A;ENST00000578776:exon5:c.490-1G>A)	.	.	0.999990361384395	0.938
18	24440818	T	A	18	26860854	y	y	splicing	AQP4(NM_001650:exon5:c.613-2A>T;NM_004028:exon4:c.547-2A>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.613-2A>T;ENST00000581374:exon4:c.547-2A>T;ENST00000440832:exon5:c.547-2A>T;ENST00000578776:exon5:c.490-2A>T)	.	.	0.999988247793601	0.93
18	24440818	T	C	18	26860854	y	y	splicing	AQP4(NM_001650:exon5:c.613-2A>G;NM_004028:exon4:c.547-2A>G)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.613-2A>G;ENST00000581374:exon4:c.547-2A>G;ENST00000440832:exon5:c.547-2A>G;ENST00000578776:exon5:c.490-2A>G)	.	.	0.999988247793601	0.93
18	24440818	T	G	18	26860854	y	y	splicing	AQP4(NM_001650:exon5:c.613-2A>C;NM_004028:exon4:c.547-2A>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon5:c.613-2A>C;ENST00000581374:exon4:c.547-2A>C;ENST00000440832:exon5:c.547-2A>C;ENST00000578776:exon5:c.490-2A>C)	.	.	0.999988247793601	0.93
18	24440819	A	C	18	26860855	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.993144321859524	0.634
18	24440819	A	G	18	26860855	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.63161189853555E-5	0.012
18	24440819	A	T	18	26860855	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00842226463323725	0.198
18	24440820	T	A	18	26860856	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.85945222334468E-5	0.002
18	24440820	T	C	18	26860856	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.16465875782734E-5	0.0
18	24440820	T	G	18	26860856	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.58687275486869E-6	0.0
18	24440821	A	C	18	26860857	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0200082788216906	0.334
18	24440821	A	G	18	26860857	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00300025622376514	0.098
18	24440821	A	T	18	26860857	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0170844847878923	0.34
18	24440822	G	A	18	26860858	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.43818388341443E-4	0.02
18	24440822	G	C	18	26860858	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00501309891262988	0.204
18	24440822	G	T	18	26860858	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0120649189506018	0.192
18	24440823	G	A	18	26860859	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.52292841573988E-5	0.008
18	24440823	G	C	18	26860859	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.12229413147594E-4	0.03
18	24440823	G	T	18	26860859	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00131771030978893	0.058
18	24440824	A	C	18	26860860	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00679972941845768	0.086
18	24440824	A	G	18	26860860	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.17316863011542E-4	0.002
18	24440824	A	T	18	26860860	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00784218984746301	0.1
18	24440825	A	C	18	26860861	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.05699598120384E-5	0.074
18	24440825	A	G	18	26860861	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.4830526458206E-5	0.02
18	24440825	A	T	18	26860861	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.77449314029735E-4	0.092
18	24440826	A	C	18	26860862	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0272932579098031	0.264
18	24440826	A	G	18	26860862	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00660915413979221	0.07
18	24440826	A	T	18	26860862	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0644698414488756	0.388
18	24440827	C	A	18	26860863	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00175752567939515	0.158
18	24440827	C	G	18	26860863	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0026059229320131	0.098
18	24440827	C	T	18	26860863	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0113529783069798	0.078
18	24440828	A	C	18	26860864	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0096260052805627	0.216
18	24440828	A	G	18	26860864	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00175719408242334	0.09
18	24440828	A	T	18	26860864	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999928540998288	0.944
18	24441087	A	C	18	26861123	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.88568467278335E-4	0.002
18	24441087	A	G	18	26861123	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.80257671126134E-4	0.0
18	24441087	A	T	18	26861123	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.22085078347315E-4	0.0
18	24441088	A	C	18	26861124	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00213087855210946	0.006
18	24441088	A	G	18	26861124	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.89371736124219E-4	0.0
18	24441088	A	T	18	26861124	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.54513835165806E-4	0.0
18	24441089	A	C	18	26861125	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.996140198956019	0.842
18	24441089	A	G	18	26861125	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.997282716123669	0.884
18	24441089	A	T	18	26861125	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.990095006510829	0.774
18	24441090	C	A	18	26861126	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999952831356824	0.99
18	24441090	C	G	18	26861126	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999966160629746	0.994
18	24441090	C	T	18	26861126	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999963856395248	1.0
18	24441091	T	A	18	26861127	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.998214181196909	0.958
18	24441091	T	C	18	26861127	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.997628362217695	0.936
18	24441091	T	G	18	26861127	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.99895518727301	0.906
18	24441092	T	A	18	26861128	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.99972125565525	0.952
18	24441092	T	C	18	26861128	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.887527275261268	0.51
18	24441092	T	G	18	26861128	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999516808919208	0.93
18	24441093	A	C	18	26861129	y	y	splicing	AQP4(NM_001650:exon4:c.612+2T>G;NM_004028:exon3:c.546+2T>G)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.612+2T>G;ENST00000581374:exon3:c.546+2T>G;ENST00000440832:exon4:c.546+2T>G;ENST00000578776:exon4:c.489+2T>G)	.	.	0.999988247793601	0.926
18	24441093	A	G	18	26861129	y	y	splicing	AQP4(NM_001650:exon4:c.612+2T>C;NM_004028:exon3:c.546+2T>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.612+2T>C;ENST00000581374:exon3:c.546+2T>C;ENST00000440832:exon4:c.546+2T>C;ENST00000578776:exon4:c.489+2T>C)	.	.	0.98918007292081	0.63
18	24441093	A	T	18	26861129	y	y	splicing	AQP4(NM_001650:exon4:c.612+2T>A;NM_004028:exon3:c.546+2T>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.612+2T>A;ENST00000581374:exon3:c.546+2T>A;ENST00000440832:exon4:c.546+2T>A;ENST00000578776:exon4:c.489+2T>A)	.	.	0.999988247793601	0.926
18	24441094	C	A	18	26861130	y	y	splicing	AQP4(NM_001650:exon4:c.612+1G>T;NM_004028:exon3:c.546+1G>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.612+1G>T;ENST00000581374:exon3:c.546+1G>T;ENST00000440832:exon4:c.546+1G>T;ENST00000578776:exon4:c.489+1G>T)	.	.	0.999985532734767	0.934
18	24441094	C	G	18	26861130	y	y	splicing	AQP4(NM_001650:exon4:c.612+1G>C;NM_004028:exon3:c.546+1G>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.612+1G>C;ENST00000581374:exon3:c.546+1G>C;ENST00000440832:exon4:c.546+1G>C;ENST00000578776:exon4:c.489+1G>C)	.	.	0.999985532734767	0.934
18	24441094	C	T	18	26861130	y	y	splicing	AQP4(NM_001650:exon4:c.612+1G>A;NM_004028:exon3:c.546+1G>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.612+1G>A;ENST00000581374:exon3:c.546+1G>A;ENST00000440832:exon4:c.546+1G>A;ENST00000578776:exon4:c.489+1G>A)	.	.	0.999985532734767	0.934
18	24441095	T	A	18	26861131	y	y	exonic	AQP4	synonymous SNV	AQP4:NM_001650:exon3:c.A612T:p.A204A;AQP4:NM_004028:exon2:c.A546T:p.A182A;	exonic	ENSG00000171885	synonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.A546T:p.A182A;ENSG00000171885:ENST00000578776:exon3:c.A489T:p.A163A;ENSG00000171885:ENST00000383168:exon3:c.A612T:p.A204A;ENSG00000171885:ENST00000440832:exon3:c.A546T:p.A182A;	0.00274783854565155	0.164
18	24441095	T	C	18	26861131	y	y	exonic	AQP4	synonymous SNV	AQP4:NM_001650:exon3:c.A612G:p.A204A;AQP4:NM_004028:exon2:c.A546G:p.A182A;	exonic	ENSG00000171885	synonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.A546G:p.A182A;ENSG00000171885:ENST00000578776:exon3:c.A489G:p.A163A;ENSG00000171885:ENST00000383168:exon3:c.A612G:p.A204A;ENSG00000171885:ENST00000440832:exon3:c.A546G:p.A182A;	4.32068224253738E-4	0.038
18	24441095	T	G	18	26861131	y	y	exonic	AQP4	synonymous SNV	AQP4:NM_001650:exon3:c.A612C:p.A204A;AQP4:NM_004028:exon2:c.A546C:p.A182A;	exonic	ENSG00000171885	synonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.A546C:p.A182A;ENSG00000171885:ENST00000578776:exon3:c.A489C:p.A163A;ENSG00000171885:ENST00000383168:exon3:c.A612C:p.A204A;ENSG00000171885:ENST00000440832:exon3:c.A546C:p.A182A;	0.020265021420402	0.136
18	24441096	G	A	18	26861132	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.C611T:p.A204V;AQP4:NM_004028:exon2:c.C545T:p.A182V;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.C545T:p.A182V;ENSG00000171885:ENST00000578776:exon3:c.C488T:p.A163V;ENSG00000171885:ENST00000383168:exon3:c.C611T:p.A204V;ENSG00000171885:ENST00000440832:exon3:c.C545T:p.A182V;	0.98906463552362	0.894
18	24441096	G	C	18	26861132	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.C611G:p.A204G;AQP4:NM_004028:exon2:c.C545G:p.A182G;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.C545G:p.A182G;ENSG00000171885:ENST00000578776:exon3:c.C488G:p.A163G;ENSG00000171885:ENST00000383168:exon3:c.C611G:p.A204G;ENSG00000171885:ENST00000440832:exon3:c.C545G:p.A182G;	0.00216901521634226	0.074
18	24441096	G	T	18	26861132	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.C611A:p.A204E;AQP4:NM_004028:exon2:c.C545A:p.A182E;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.C545A:p.A182E;ENSG00000171885:ENST00000578776:exon3:c.C488A:p.A163E;ENSG00000171885:ENST00000383168:exon3:c.C611A:p.A204E;ENSG00000171885:ENST00000440832:exon3:c.C545A:p.A182E;	0.954559884529337	0.744
18	24441097	C	A	18	26861133	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.G610T:p.A204S;AQP4:NM_004028:exon2:c.G544T:p.A182S;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.G544T:p.A182S;ENSG00000171885:ENST00000578776:exon3:c.G487T:p.A163S;ENSG00000171885:ENST00000383168:exon3:c.G610T:p.A204S;ENSG00000171885:ENST00000440832:exon3:c.G544T:p.A182S;	0.968336550733838	0.862
18	24441097	C	G	18	26861133	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.G610C:p.A204P;AQP4:NM_004028:exon2:c.G544C:p.A182P;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.G544C:p.A182P;ENSG00000171885:ENST00000578776:exon3:c.G487C:p.A163P;ENSG00000171885:ENST00000383168:exon3:c.G610C:p.A204P;ENSG00000171885:ENST00000440832:exon3:c.G544C:p.A182P;	0.930393484225735	0.79
18	24441097	C	T	18	26861133	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.G610A:p.A204T;AQP4:NM_004028:exon2:c.G544A:p.A182T;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.G544A:p.A182T;ENSG00000171885:ENST00000578776:exon3:c.G487A:p.A163T;ENSG00000171885:ENST00000383168:exon3:c.G610A:p.A204T;ENSG00000171885:ENST00000440832:exon3:c.G544A:p.A182T;	0.930393484225735	0.798
18	24441258	A	C	18	26861294	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.T449G:p.V150G;AQP4:NM_004028:exon2:c.T383G:p.V128G;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.T383G:p.V128G;ENSG00000171885:ENST00000578776:exon3:c.T326G:p.V109G;ENSG00000171885:ENST00000383168:exon3:c.T449G:p.V150G;ENSG00000171885:ENST00000440832:exon3:c.T383G:p.V128G;	0.222725372012291	0.518
18	24441258	A	G	18	26861294	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.T449C:p.V150A;AQP4:NM_004028:exon2:c.T383C:p.V128A;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.T383C:p.V128A;ENSG00000171885:ENST00000578776:exon3:c.T326C:p.V109A;ENSG00000171885:ENST00000383168:exon3:c.T449C:p.V150A;ENSG00000171885:ENST00000440832:exon3:c.T383C:p.V128A;	0.228825870110403	0.574
18	24441258	A	T	18	26861294	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.T449A:p.V150D;AQP4:NM_004028:exon2:c.T383A:p.V128D;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.T383A:p.V128D;ENSG00000171885:ENST00000578776:exon3:c.T326A:p.V109D;ENSG00000171885:ENST00000383168:exon3:c.T449A:p.V150D;ENSG00000171885:ENST00000440832:exon3:c.T383A:p.V128D;	0.238133198448726	0.594
18	24441259	C	A	18	26861295	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.G448T:p.V150F;AQP4:NM_004028:exon2:c.G382T:p.V128F;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.G382T:p.V128F;ENSG00000171885:ENST00000578776:exon3:c.G325T:p.V109F;ENSG00000171885:ENST00000383168:exon3:c.G448T:p.V150F;ENSG00000171885:ENST00000440832:exon3:c.G382T:p.V128F;	0.998945727893557	0.862
18	24441259	C	G	18	26861295	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.G448C:p.V150L;AQP4:NM_004028:exon2:c.G382C:p.V128L;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.G382C:p.V128L;ENSG00000171885:ENST00000578776:exon3:c.G325C:p.V109L;ENSG00000171885:ENST00000383168:exon3:c.G448C:p.V150L;ENSG00000171885:ENST00000440832:exon3:c.G382C:p.V128L;	0.526490242600045	0.53
18	24441259	C	T	18	26861295	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon3:c.G448A:p.V150I;AQP4:NM_004028:exon2:c.G382A:p.V128I;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon2:c.G382A:p.V128I;ENSG00000171885:ENST00000578776:exon3:c.G325A:p.V109I;ENSG00000171885:ENST00000383168:exon3:c.G448A:p.V150I;ENSG00000171885:ENST00000440832:exon3:c.G382A:p.V128I;	0.998148494901182	0.748
18	24441260	C	A	18	26861296	y	y	splicing	AQP4(NM_001650:exon4:c.448-1G>T;NM_004028:exon3:c.382-1G>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.448-1G>T;ENST00000581374:exon3:c.382-1G>T;ENST00000440832:exon4:c.382-1G>T;ENST00000578776:exon4:c.325-1G>T;ENST00000383170:exon4:c.444-1G>T)	.	.	0.999985532734767	0.934
18	24441260	C	G	18	26861296	y	y	splicing	AQP4(NM_001650:exon4:c.448-1G>C;NM_004028:exon3:c.382-1G>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.448-1G>C;ENST00000581374:exon3:c.382-1G>C;ENST00000440832:exon4:c.382-1G>C;ENST00000578776:exon4:c.325-1G>C;ENST00000383170:exon4:c.444-1G>C)	.	.	0.999985532734767	0.934
18	24441260	C	T	18	26861296	y	y	splicing	AQP4(NM_001650:exon4:c.448-1G>A;NM_004028:exon3:c.382-1G>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.448-1G>A;ENST00000581374:exon3:c.382-1G>A;ENST00000440832:exon4:c.382-1G>A;ENST00000578776:exon4:c.325-1G>A;ENST00000383170:exon4:c.444-1G>A)	.	.	0.999985532734767	0.934
18	24441261	T	A	18	26861297	y	y	splicing	AQP4(NM_001650:exon4:c.448-2A>T;NM_004028:exon3:c.382-2A>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.448-2A>T;ENST00000581374:exon3:c.382-2A>T;ENST00000440832:exon4:c.382-2A>T;ENST00000578776:exon4:c.325-2A>T;ENST00000383170:exon4:c.444-2A>T)	.	.	0.999988247793601	0.926
18	24441261	T	C	18	26861297	y	y	splicing	AQP4(NM_001650:exon4:c.448-2A>G;NM_004028:exon3:c.382-2A>G)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.448-2A>G;ENST00000581374:exon3:c.382-2A>G;ENST00000440832:exon4:c.382-2A>G;ENST00000578776:exon4:c.325-2A>G;ENST00000383170:exon4:c.444-2A>G)	.	.	0.999988247793601	0.926
18	24441261	T	G	18	26861297	y	y	splicing	AQP4(NM_001650:exon4:c.448-2A>C;NM_004028:exon3:c.382-2A>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon4:c.448-2A>C;ENST00000581374:exon3:c.382-2A>C;ENST00000440832:exon4:c.382-2A>C;ENST00000578776:exon4:c.325-2A>C;ENST00000383170:exon4:c.444-2A>C)	.	.	0.999988247793601	0.926
18	24441262	A	C	18	26861298	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.519197610295056	0.446
18	24441262	A	G	18	26861298	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.09869042568733E-6	0.052
18	24441262	A	T	18	26861298	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.2683672890975E-4	0.124
18	24441263	G	A	18	26861299	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.06987472519737E-5	0.006
18	24441263	G	C	18	26861299	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.32664669484747E-6	0.008
18	24441263	G	T	18	26861299	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.35428635384938E-5	0.008
18	24441264	A	C	18	26861300	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.42953383694661E-4	0.05
18	24441264	A	G	18	26861300	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.40981467677285E-5	0.0
18	24441264	A	T	18	26861300	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.69569484344229E-5	0.008
18	24441265	G	A	18	26861301	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.0037615101216E-5	0.008
18	24441265	G	C	18	26861301	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.83666422172305E-4	0.104
18	24441265	G	T	18	26861301	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.92123850132823E-4	0.066
18	24441266	A	C	18	26861302	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.57087656652859E-5	0.076
18	24441266	A	G	18	26861302	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.99599841021473E-5	0.016
18	24441266	A	T	18	26861302	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.92036791932184E-4	0.186
18	24441267	A	C	18	26861303	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.43631735114903E-5	0.014
18	24441267	A	G	18	26861303	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.1602236595066E-5	0.0
18	24441267	A	T	18	26861303	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.43631735114903E-5	0.014
18	24441268	A	C	18	26861304	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.57071489518653E-4	0.036
18	24441268	A	G	18	26861304	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.34853381669161E-5	0.0
18	24441268	A	T	18	26861304	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.1376012028832E-4	0.056
18	24441269	G	A	18	26861305	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.11265732831474E-5	0.034
18	24441269	G	C	18	26861305	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.01039436513175E-4	0.114
18	24441269	G	T	18	26861305	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.00369143629525E-4	0.114
18	24441270	A	C	18	26861306	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.83412791130767E-4	0.068
18	24441270	A	G	18	26861306	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.11397941679517E-5	0.008
18	24441270	A	T	18	26861306	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.87154630353319E-4	0.13
18	24441271	A	C	18	26861307	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.24459630730755E-4	0.278
18	24441271	A	G	18	26861307	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.20712310065987E-4	0.046
18	24441271	A	T	18	26861307	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00248257500547267	0.29
18	24442138	G	A	18	26862174	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.7036295049258E-5	0.048
18	24442138	G	C	18	26862174	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.42874301929406E-5	0.114
18	24442138	G	T	18	26862174	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.51625685544317E-5	0.052
18	24442139	A	C	18	26862175	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.33126091539343E-4	0.014
18	24442139	A	G	18	26862175	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.03150856705274E-5	0.012
18	24442139	A	T	18	26862175	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.47517509980867E-5	0.05
18	24442140	T	A	18	26862176	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.02114414721552E-5	0.056
18	24442140	T	C	18	26862176	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.85420169755195E-5	0.058
18	24442140	T	G	18	26862176	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.90188684940503E-4	0.072
18	24442141	G	A	18	26862177	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.00498016879104E-5	0.006
18	24442141	G	C	18	26862177	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.17601227523388E-5	0.002
18	24442141	G	T	18	26862177	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.24687926718599E-5	0.074
18	24442142	C	A	18	26862178	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.38406149585219E-4	0.214
18	24442142	C	G	18	26862178	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.67376704475593E-5	0.256
18	24442142	C	T	18	26862178	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.32292255590189E-4	0.136
18	24442143	T	A	18	26862179	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999931807675654	0.926
18	24442143	T	C	18	26862179	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.992038721917205	0.724
18	24442143	T	G	18	26862179	y	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.99981426999423	0.922
18	24442144	A	C	18	26862180	y	y	splicing	AQP4(NM_001650:exon3:c.447+2T>G;NM_004028:exon2:c.381+2T>G)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.447+2T>G;ENST00000581374:exon2:c.381+2T>G;ENST00000440832:exon3:c.381+2T>G;ENST00000578776:exon3:c.324+2T>G;ENST00000383170:exon3:c.443+2T>G)	.	.	0.999980038741134	0.866
18	24442144	A	G	18	26862180	y	y	splicing	AQP4(NM_001650:exon3:c.447+2T>C;NM_004028:exon2:c.381+2T>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.447+2T>C;ENST00000581374:exon2:c.381+2T>C;ENST00000440832:exon3:c.381+2T>C;ENST00000578776:exon3:c.324+2T>C;ENST00000383170:exon3:c.443+2T>C)	.	.	0.999617672646756	0.794
18	24442144	A	T	18	26862180	y	y	splicing	AQP4(NM_001650:exon3:c.447+2T>A;NM_004028:exon2:c.381+2T>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.447+2T>A;ENST00000581374:exon2:c.381+2T>A;ENST00000440832:exon3:c.381+2T>A;ENST00000578776:exon3:c.324+2T>A;ENST00000383170:exon3:c.443+2T>A)	.	.	0.999980038741134	0.866
18	24442145	C	A	18	26862181	y	y	splicing	AQP4(NM_001650:exon3:c.447+1G>T;NM_004028:exon2:c.381+1G>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.447+1G>T;ENST00000581374:exon2:c.381+1G>T;ENST00000440832:exon3:c.381+1G>T;ENST00000578776:exon3:c.324+1G>T;ENST00000383170:exon3:c.443+1G>T)	.	.	0.999979281423075	0.866
18	24442145	C	G	18	26862181	y	y	splicing	AQP4(NM_001650:exon3:c.447+1G>C;NM_004028:exon2:c.381+1G>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.447+1G>C;ENST00000581374:exon2:c.381+1G>C;ENST00000440832:exon3:c.381+1G>C;ENST00000578776:exon3:c.324+1G>C;ENST00000383170:exon3:c.443+1G>C)	.	.	0.999979281423075	0.89
18	24442145	C	T	18	26862181	y	y	splicing	AQP4(NM_001650:exon3:c.447+1G>A;NM_004028:exon2:c.381+1G>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.447+1G>A;ENST00000581374:exon2:c.381+1G>A;ENST00000440832:exon3:c.381+1G>A;ENST00000578776:exon3:c.324+1G>A;ENST00000383170:exon3:c.443+1G>A)	.	.	0.999978658181221	0.912
18	24442146	C	A	18	26862182	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.G447T:p.M149I;AQP4:NM_004028:exon1:c.G381T:p.M127I;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.G381T:p.M127I;ENSG00000171885:ENST00000578776:exon2:c.G324T:p.M108I;ENSG00000171885:ENST00000383168:exon2:c.G447T:p.M149I;ENSG00000171885:ENST00000440832:exon2:c.G381T:p.M127I;	0.999950478950326	0.986
18	24442146	C	G	18	26862182	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.G447C:p.M149I;AQP4:NM_004028:exon1:c.G381C:p.M127I;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.G381C:p.M127I;ENSG00000171885:ENST00000578776:exon2:c.G324C:p.M108I;ENSG00000171885:ENST00000383168:exon2:c.G447C:p.M149I;ENSG00000171885:ENST00000440832:exon2:c.G381C:p.M127I;	0.99999247255986	0.986
18	24442146	C	T	18	26862182	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.G447A:p.M149I;AQP4:NM_004028:exon1:c.G381A:p.M127I;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.G381A:p.M127I;ENSG00000171885:ENST00000578776:exon2:c.G324A:p.M108I;ENSG00000171885:ENST00000383168:exon2:c.G447A:p.M149I;ENSG00000171885:ENST00000440832:exon2:c.G381A:p.M127I;	0.999988377973969	0.996
18	24442147	A	C	18	26862183	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.T446G:p.M149R;AQP4:NM_004028:exon1:c.T380G:p.M127R;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.T380G:p.M127R;ENSG00000171885:ENST00000578776:exon2:c.T323G:p.M108R;ENSG00000171885:ENST00000383168:exon2:c.T446G:p.M149R;ENSG00000171885:ENST00000440832:exon2:c.T380G:p.M127R;	3.6653163642405E-5	0.03
18	24442147	A	G	18	26862183	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.T446C:p.M149T;AQP4:NM_004028:exon1:c.T380C:p.M127T;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.T380C:p.M127T;ENSG00000171885:ENST00000578776:exon2:c.T323C:p.M108T;ENSG00000171885:ENST00000383168:exon2:c.T446C:p.M149T;ENSG00000171885:ENST00000440832:exon2:c.T380C:p.M127T;	3.66144422605406E-5	0.046
18	24442147	A	T	18	26862183	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.T446A:p.M149K;AQP4:NM_004028:exon1:c.T380A:p.M127K;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.T380A:p.M127K;ENSG00000171885:ENST00000578776:exon2:c.T323A:p.M108K;ENSG00000171885:ENST00000383168:exon2:c.T446A:p.M149K;ENSG00000171885:ENST00000440832:exon2:c.T380A:p.M127K;	8.58451038228079E-5	0.066
18	24442148	T	A	18	26862184	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.A445T:p.M149L;AQP4:NM_004028:exon1:c.A379T:p.M127L;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.A379T:p.M127L;ENSG00000171885:ENST00000578776:exon2:c.A322T:p.M108L;ENSG00000171885:ENST00000383168:exon2:c.A445T:p.M149L;ENSG00000171885:ENST00000440832:exon2:c.A379T:p.M127L;	0.812152752589616	0.586
18	24442148	T	C	18	26862184	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.A445G:p.M149V;AQP4:NM_004028:exon1:c.A379G:p.M127V;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.A379G:p.M127V;ENSG00000171885:ENST00000578776:exon2:c.A322G:p.M108V;ENSG00000171885:ENST00000383168:exon2:c.A445G:p.M149V;ENSG00000171885:ENST00000440832:exon2:c.A379G:p.M127V;	0.0312710231381189	0.23
18	24442148	T	G	18	26862184	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.A445C:p.M149L;AQP4:NM_004028:exon1:c.A379C:p.M127L;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000581374:exon1:c.A379C:p.M127L;ENSG00000171885:ENST00000578776:exon2:c.A322C:p.M108L;ENSG00000171885:ENST00000383168:exon2:c.A445C:p.M149L;ENSG00000171885:ENST00000440832:exon2:c.A379C:p.M127L;	5.7290925198963E-5	0.058
18	24442559	T	A	18	26862595	y	y	exonic	AQP4	stopgain SNV	AQP4:NM_001650:exon2:c.A34T:p.K12X;	exonic	ENSG00000171885	stopgain SNV	ENSG00000171885:ENST00000383168:exon2:c.A34T:p.K12X;	0.702498550590126	0.828
18	24442559	T	C	18	26862595	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.A34G:p.K12E;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000383168:exon2:c.A34G:p.K12E;	0.565803407678718	0.402
18	24442559	T	G	18	26862595	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon2:c.A34C:p.K12Q;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000383168:exon2:c.A34C:p.K12Q;	0.498663812007085	0.628
18	24442560	A	C	18	26862596	y	y	exonic	AQP4	synonymous SNV	AQP4:NM_001650:exon2:c.T33G:p.G11G;	exonic	ENSG00000171885	synonymous SNV	ENSG00000171885:ENST00000383168:exon2:c.T33G:p.G11G;	0.00369522675612083	0.112
18	24442560	A	G	18	26862596	y	y	exonic	AQP4	synonymous SNV	AQP4:NM_001650:exon2:c.T33C:p.G11G;	exonic	ENSG00000171885	synonymous SNV	ENSG00000171885:ENST00000383168:exon2:c.T33C:p.G11G;	8.82317269611092E-4	0.014
18	24442560	A	T	18	26862596	y	y	exonic	AQP4	synonymous SNV	AQP4:NM_001650:exon2:c.T33A:p.G11G;	exonic	ENSG00000171885	synonymous SNV	ENSG00000171885:ENST00000383168:exon2:c.T33A:p.G11G;	5.55060482721802E-4	0.0
18	24442561	C	A	18	26862597	y	y	splicing	AQP4(NM_001650:exon3:c.33-1G>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.33-1G>T)	.	.	0.99994568797423	0.916
18	24442561	C	G	18	26862597	y	y	splicing	AQP4(NM_001650:exon3:c.33-1G>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.33-1G>C)	.	.	0.99994568797423	0.91
18	24442561	C	T	18	26862597	y	y	splicing	AQP4(NM_001650:exon3:c.33-1G>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.33-1G>A)	.	.	0.999970661931818	0.916
18	24442562	T	A	18	26862598	y	y	splicing	AQP4(NM_001650:exon3:c.33-2A>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.33-2A>T)	.	.	0.999993519952936	0.926
18	24442562	T	C	18	26862598	y	y	splicing	AQP4(NM_001650:exon3:c.33-2A>G)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.33-2A>G)	.	.	0.999993519952936	0.926
18	24442562	T	G	18	26862598	y	y	splicing	AQP4(NM_001650:exon3:c.33-2A>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon3:c.33-2A>C)	.	.	0.999993519952936	0.926
18	24442563	G	A	18	26862599	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.126635922118404	0.204
18	24442563	G	C	18	26862599	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.999902739183899	0.944
18	24442563	G	T	18	26862599	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.889641698572311	0.642
18	24442564	A	C	18	26862600	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	4.47651014245683E-4	0.0
18	24442564	A	G	18	26862600	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.88961730858078E-4	0.0
18	24442564	A	T	18	26862600	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	7.50944619931807E-4	0.002
18	24442565	A	C	18	26862601	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.0837695977204237	0.452
18	24442565	A	G	18	26862601	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.0418905012337153	0.134
18	24442565	A	T	18	26862601	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.131464042717406	0.444
18	24442566	A	C	18	26862602	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.00312560797167087	0.158
18	24442566	A	G	18	26862602	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.88238831438307E-4	0.004
18	24442566	A	T	18	26862602	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.0030160466737255	0.122
18	24442567	A	C	18	26862603	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	3.2154388003359E-4	0.052
18	24442567	A	G	18	26862603	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	5.76366882186866E-5	0.004
18	24442567	A	T	18	26862603	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	1.70360787074704E-4	0.018
18	24442568	G	A	18	26862604	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.03160875410356E-5	0.002
18	24442568	G	C	18	26862604	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.23231507750309E-4	0.024
18	24442568	G	T	18	26862604	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.00115483139748322	0.038
18	24442569	A	C	18	26862605	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.00275701998730785	0.068
18	24442569	A	G	18	26862605	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	1.3789391985069E-4	0.002
18	24442569	A	T	18	26862605	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.00229413461290449	0.094
18	24442570	G	A	18	26862606	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.93378293701807E-5	0.002
18	24442570	G	C	18	26862606	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.74172068783579E-4	0.048
18	24442570	G	T	18	26862606	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.002575752404031	0.194
18	24442571	A	C	18	26862607	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.0632186055130742	0.32
18	24442571	A	G	18	26862607	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.0111139031093432	0.124
18	24442571	A	T	18	26862607	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.138338163455785	0.404
18	24442572	A	C	18	26862608	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	3.42411510351946E-4	0.1
18	24442572	A	G	18	26862608	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	1.02116400893466E-4	0.02
18	24442572	A	T	18	26862608	y	y	UTR5	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.00173262318561709	0.068
18	24442918	C	A	18	26862954	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.1020973109669E-5	0.0
18	24442918	C	G	18	26862954	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.256915070725E-5	0.0
18	24442918	C	T	18	26862954	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.1020973109669E-5	0.0
18	24442919	T	A	18	26862955	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.93008933363103E-5	0.002
18	24442919	T	C	18	26862955	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.93008933363103E-5	0.002
18	24442919	T	G	18	26862955	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.93008933363103E-5	0.002
18	24442920	A	C	18	26862956	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.15936132158374E-4	0.018
18	24442920	A	G	18	26862956	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.34963260403154E-4	0.018
18	24442920	A	T	18	26862956	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.33152596879021E-4	0.018
18	24442921	C	A	18	26862957	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.16581026635165E-5	0.008
18	24442921	C	G	18	26862957	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.16581026635165E-5	0.008
18	24442921	C	T	18	26862957	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.16581026635165E-5	0.008
18	24442922	T	A	18	26862958	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00168486542249786	0.018
18	24442922	T	C	18	26862958	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00210442243039275	0.02
18	24442922	T	G	18	26862958	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00210442243039275	0.02
18	24442923	T	A	18	26862959	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.28134029491298E-5	0.0
18	24442923	T	C	18	26862959	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.09783703477546E-5	0.0
18	24442923	T	G	18	26862959	n	y	intronic	AQP4	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.09783703477546E-5	0.0
18	24442924	A	C	18	26862960	n	y	intronic	AQP4	.	.	splicing	ENSG00000171885	.	.	5.5529151830241E-5	0.008
18	24442924	A	G	18	26862960	n	y	intronic	AQP4	.	.	splicing	ENSG00000171885	.	.	5.5529151830241E-5	0.01
18	24442924	A	T	18	26862960	n	y	intronic	AQP4	.	.	splicing	ENSG00000171885	.	.	5.5529151830241E-5	0.0
18	24442925	C	A	18	26862961	n	y	intronic	AQP4	.	.	splicing	ENSG00000171885	.	.	3.07620641825897E-5	0.0
18	24442925	C	G	18	26862961	n	y	intronic	AQP4	.	.	splicing	ENSG00000171885	.	.	3.07620641825897E-5	0.0
18	24442925	C	T	18	26862961	n	y	intronic	AQP4	.	.	splicing	ENSG00000171885	.	.	3.31929338280547E-5	0.0
18	24442926	A	C	18	26862962	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	1.11389651227104E-4	0.0
18	24442926	A	G	18	26862962	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	1.11389651227104E-4	0.0
18	24442926	A	T	18	26862962	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	6.12869275217467E-5	0.0
18	24442927	T	A	18	26862963	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.9188670368541E-4	0.002
18	24442927	T	C	18	26862963	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.9188670368541E-4	0.002
18	24442927	T	G	18	26862963	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	2.9188670368541E-4	0.002
18	24442928	T	A	18	26862964	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.00850229560848459	0.02
18	24442928	T	C	18	26862964	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.00576131812729103	0.02
18	24442928	T	G	18	26862964	n	y	intronic	AQP4	.	.	ncRNA_UTR5	ENSG00000171885	.	.	0.00576131812729103	0.018
18	24445614	G	A	18	26865650	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00165293919495964	0.022
18	24445614	G	C	18	26865650	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00171029758175664	0.022
18	24445614	G	T	18	26865650	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00182708924091154	0.02
18	24445615	G	A	18	26865651	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.77462000884224E-4	0.006
18	24445615	G	C	18	26865651	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.4633474373411E-4	0.006
18	24445615	G	T	18	26865651	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.21998942535682E-5	0.0
18	24445616	A	C	18	26865652	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.986450269353213	0.662
18	24445616	A	G	18	26865652	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.980791332227652	0.71
18	24445616	A	T	18	26865652	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.989198150682077	0.732
18	24445617	C	A	18	26865653	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999254192464367	0.88
18	24445617	C	G	18	26865653	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999121612816794	0.95
18	24445617	C	T	18	26865653	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.998575652089706	0.916
18	24445618	T	A	18	26865654	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.99850309099546	0.85
18	24445618	T	C	18	26865654	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.997786447239275	0.9
18	24445618	T	G	18	26865654	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.997719509238705	0.89
18	24445619	T	A	18	26865655	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999560678381162	0.952
18	24445619	T	C	18	26865655	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.933512839205302	0.53
18	24445619	T	G	18	26865655	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999099327272983	0.944
18	24445620	A	C	18	26865656	y	y	splicing	AQP4(NM_001650:exon2:c.32+2T>G)	.	.	splicing	ENSG00000171885(ENST00000383168:exon2:c.32+2T>G;ENST00000578776:exon2:c.32+2T>G;ENST00000383170:exon2:c.32+2T>G)	.	.	0.999988247793601	0.926
18	24445620	A	G	18	26865656	y	y	splicing	AQP4(NM_001650:exon2:c.32+2T>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon2:c.32+2T>C;ENST00000578776:exon2:c.32+2T>C;ENST00000383170:exon2:c.32+2T>C)	.	.	0.98918007292081	0.63
18	24445620	A	T	18	26865656	y	y	splicing	AQP4(NM_001650:exon2:c.32+2T>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon2:c.32+2T>A;ENST00000578776:exon2:c.32+2T>A;ENST00000383170:exon2:c.32+2T>A)	.	.	0.999988247793601	0.926
18	24445621	C	A	18	26865657	y	y	splicing	AQP4(NM_001650:exon2:c.32+1G>T)	.	.	splicing	ENSG00000171885(ENST00000383168:exon2:c.32+1G>T;ENST00000578776:exon2:c.32+1G>T;ENST00000383170:exon2:c.32+1G>T)	.	.	0.999985532734767	0.934
18	24445621	C	G	18	26865657	y	y	splicing	AQP4(NM_001650:exon2:c.32+1G>C)	.	.	splicing	ENSG00000171885(ENST00000383168:exon2:c.32+1G>C;ENST00000578776:exon2:c.32+1G>C;ENST00000383170:exon2:c.32+1G>C)	.	.	0.999985532734767	0.934
18	24445621	C	T	18	26865657	y	y	splicing	AQP4(NM_001650:exon2:c.32+1G>A)	.	.	splicing	ENSG00000171885(ENST00000383168:exon2:c.32+1G>A;ENST00000578776:exon2:c.32+1G>A;ENST00000383170:exon2:c.32+1G>A)	.	.	0.999985532734767	0.934
18	24445622	C	A	18	26865658	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon1:c.G32T:p.G11V;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000578776:exon1:c.G32T:p.G11V;ENSG00000171885:ENST00000383168:exon1:c.G32T:p.G11V;ENSG00000171885:ENST00000383170:exon1:c.G32T:p.G11V;	0.999220797442014	0.94
18	24445622	C	G	18	26865658	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon1:c.G32C:p.G11A;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000578776:exon1:c.G32C:p.G11A;ENSG00000171885:ENST00000383168:exon1:c.G32C:p.G11A;ENSG00000171885:ENST00000383170:exon1:c.G32C:p.G11A;	0.999876934928861	0.966
18	24445622	C	T	18	26865658	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon1:c.G32A:p.G11D;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000578776:exon1:c.G32A:p.G11D;ENSG00000171885:ENST00000383168:exon1:c.G32A:p.G11D;ENSG00000171885:ENST00000383170:exon1:c.G32A:p.G11D;	0.999734666042405	0.978
18	24445623	C	A	18	26865659	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon1:c.G31T:p.G11C;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000578776:exon1:c.G31T:p.G11C;ENSG00000171885:ENST00000383168:exon1:c.G31T:p.G11C;ENSG00000171885:ENST00000383170:exon1:c.G31T:p.G11C;	0.99191632477186	0.808
18	24445623	C	G	18	26865659	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon1:c.G31C:p.G11R;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000578776:exon1:c.G31C:p.G11R;ENSG00000171885:ENST00000383168:exon1:c.G31C:p.G11R;ENSG00000171885:ENST00000383170:exon1:c.G31C:p.G11R;	0.986248017409774	0.8
18	24445623	C	T	18	26865659	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon1:c.G31A:p.G11S;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000578776:exon1:c.G31A:p.G11S;ENSG00000171885:ENST00000383168:exon1:c.G31A:p.G11S;ENSG00000171885:ENST00000383170:exon1:c.G31A:p.G11S;	0.94290381496277	0.596
18	24445624	C	A	18	26865660	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon1:c.G30T:p.W10C;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000578776:exon1:c.G30T:p.W10C;ENSG00000171885:ENST00000383168:exon1:c.G30T:p.W10C;ENSG00000171885:ENST00000383170:exon1:c.G30T:p.W10C;	0.0385970426941548	0.272
18	24445624	C	G	18	26865660	y	y	exonic	AQP4	nonsynonymous SNV	AQP4:NM_001650:exon1:c.G30C:p.W10C;	exonic	ENSG00000171885	nonsynonymous SNV	ENSG00000171885:ENST00000578776:exon1:c.G30C:p.W10C;ENSG00000171885:ENST00000383168:exon1:c.G30C:p.W10C;ENSG00000171885:ENST00000383170:exon1:c.G30C:p.W10C;	0.00524313970542265	0.042
18	24445624	C	T	18	26865660	y	y	exonic	AQP4	stopgain SNV	AQP4:NM_001650:exon1:c.G30A:p.W10X;	exonic	ENSG00000171885	stopgain SNV	ENSG00000171885:ENST00000578776:exon1:c.G30A:p.W10X;ENSG00000171885:ENST00000383168:exon1:c.G30A:p.W10X;ENSG00000171885:ENST00000383170:exon1:c.G30A:p.W10X;	0.949688068736709	0.826
18	24497313	T	A	18	26917349	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon5:c.A204T:p.K68N;CHST9:NM_031422:exon6:c.A242T:p.N81I;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon6:c.A242T:p.N81I;ENSG00000154080:ENST00000581714:exon5:c.A242T:p.N81I;ENSG00000154080:ENST00000580774:exon5:c.A204T:p.K68N;	4.25089020939024E-4	0.0
18	24497313	T	C	18	26917349	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon6:c.A242G:p.N81S;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon6:c.A242G:p.N81S;ENSG00000154080:ENST00000581714:exon5:c.A242G:p.N81S;	5.56028368330377E-4	0.02
18	24497313	T	G	18	26917349	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon5:c.A204C:p.K68N;CHST9:NM_031422:exon6:c.A242C:p.N81T;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon6:c.A242C:p.N81T;ENSG00000154080:ENST00000581714:exon5:c.A242C:p.N81T;ENSG00000154080:ENST00000580774:exon5:c.A204C:p.K68N;	0.00100690804886468	0.018
18	24497314	T	A	18	26917350	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon5:c.A203T:p.K68I;CHST9:NM_031422:exon6:c.A241T:p.N81Y;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon6:c.A241T:p.N81Y;ENSG00000154080:ENST00000581714:exon5:c.A241T:p.N81Y;ENSG00000154080:ENST00000580774:exon5:c.A203T:p.K68I;	0.00908438403840132	0.052
18	24497314	T	C	18	26917350	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon5:c.A203G:p.K68R;CHST9:NM_031422:exon6:c.A241G:p.N81D;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon6:c.A241G:p.N81D;ENSG00000154080:ENST00000581714:exon5:c.A241G:p.N81D;ENSG00000154080:ENST00000580774:exon5:c.A203G:p.K68R;	3.07619027256013E-4	0.088
18	24497314	T	G	18	26917350	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon5:c.A203C:p.K68T;CHST9:NM_031422:exon6:c.A241C:p.N81H;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon6:c.A241C:p.N81H;ENSG00000154080:ENST00000581714:exon5:c.A241C:p.N81H;ENSG00000154080:ENST00000580774:exon5:c.A203C:p.K68T;	0.00481028555115269	0.25
18	24497315	C	A	18	26917351	y	y	splicing	CHST9(NM_031422:exon7:c.241-1G>T;NM_001256316:exon6:c.203-1G>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon7:c.241-1G>T;ENST00000581714:exon6:c.241-1G>T;ENST00000580774:exon6:c.203-1G>T)	.	.	0.999990361384395	0.936
18	24497315	C	G	18	26917351	y	y	splicing	CHST9(NM_031422:exon7:c.241-1G>C;NM_001256316:exon6:c.203-1G>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon7:c.241-1G>C;ENST00000581714:exon6:c.241-1G>C;ENST00000580774:exon6:c.203-1G>C)	.	.	0.999990361384395	0.936
18	24497315	C	T	18	26917351	y	y	splicing	CHST9(NM_031422:exon7:c.241-1G>A;NM_001256316:exon6:c.203-1G>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon7:c.241-1G>A;ENST00000581714:exon6:c.241-1G>A;ENST00000580774:exon6:c.203-1G>A)	.	.	0.999990361384395	0.936
18	24497316	T	A	18	26917352	y	y	splicing	CHST9(NM_031422:exon7:c.241-2A>T;NM_001256316:exon6:c.203-2A>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon7:c.241-2A>T;ENST00000581714:exon6:c.241-2A>T;ENST00000580774:exon6:c.203-2A>T)	.	.	0.999988247793601	0.93
18	24497316	T	C	18	26917352	y	y	splicing	CHST9(NM_031422:exon7:c.241-2A>G;NM_001256316:exon6:c.203-2A>G)	.	.	splicing	ENSG00000154080(ENST00000284224:exon7:c.241-2A>G;ENST00000581714:exon6:c.241-2A>G;ENST00000580774:exon6:c.203-2A>G)	.	.	0.999988247793601	0.93
18	24497316	T	G	18	26917352	y	y	splicing	CHST9(NM_031422:exon7:c.241-2A>C;NM_001256316:exon6:c.203-2A>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon7:c.241-2A>C;ENST00000581714:exon6:c.241-2A>C;ENST00000580774:exon6:c.203-2A>C)	.	.	0.999988247793601	0.93
18	24497317	G	A	18	26917353	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.455042732066009	0.186
18	24497317	G	C	18	26917353	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999913757965544	0.888
18	24497317	G	T	18	26917353	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999976824744132	0.938
18	24497318	T	A	18	26917354	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.63870480746993E-4	0.028
18	24497318	T	C	18	26917354	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.942252874496217	0.734
18	24497318	T	G	18	26917354	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.57494947907258E-4	0.02
18	24497319	T	A	18	26917355	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.56695239054602E-4	0.0
18	24497319	T	C	18	26917355	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00208669840219566	0.084
18	24497319	T	G	18	26917355	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00137643438408784	0.0
18	24497320	A	C	18	26917356	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.21173508062635	0.62
18	24497320	A	G	18	26917356	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.72679403710195E-4	0.002
18	24497320	A	T	18	26917356	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.326711747464504	0.554
18	24497321	A	C	18	26917357	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.927601002151574	0.726
18	24497321	A	G	18	26917357	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00443088819917536	0.088
18	24497321	A	T	18	26917357	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.942201545555038	0.862
18	24497322	A	C	18	26917358	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0369529863357165	0.298
18	24497322	A	G	18	26917358	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.80234341760177E-5	0.006
18	24497322	A	T	18	26917358	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.084014038092385	0.304
18	24497323	A	C	18	26917359	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999951095199723	0.964
18	24497323	A	G	18	26917359	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00484972971207531	0.09
18	24497323	A	T	18	26917359	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.928175407775517	0.68
18	24497324	T	A	18	26917360	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.96584499835548E-5	0.028
18	24497324	T	C	18	26917360	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.00897578996029E-4	0.008
18	24497324	T	G	18	26917360	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.0140626014796E-5	0.014
18	24497325	A	C	18	26917361	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.973745637093568	0.718
18	24497325	A	G	18	26917361	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0849205802652539	0.138
18	24497325	A	T	18	26917361	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.990725517122846	0.816
18	24497326	A	C	18	26917362	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.106633289634461	0.336
18	24497326	A	G	18	26917362	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.06952587376953E-5	0.006
18	24497326	A	T	18	26917362	y	y	ncRNA_intronic	AQP4-AS1	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.892509679109485	0.494
18	24524285	G	A	18	26944321	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.52616661586899E-4	0.004
18	24524285	G	C	18	26944321	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.87538657549525E-4	0.004
18	24524285	G	T	18	26944321	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.0137201333722E-4	0.0
18	24524286	A	C	18	26944322	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.22660495981372E-5	0.0
18	24524286	A	G	18	26944322	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.26569577813692E-5	0.002
18	24524286	A	T	18	26944322	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.22660495981372E-5	0.0
18	24524287	G	A	18	26944323	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.34395007245021E-6	0.002
18	24524287	G	C	18	26944323	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.85059977657493E-6	0.004
18	24524287	G	T	18	26944323	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.72673765429251E-5	0.0
18	24524288	A	C	18	26944324	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.30458110537213E-4	0.088
18	24524288	A	G	18	26944324	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.32512127962707E-4	0.02
18	24524288	A	T	18	26944324	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.63023384819159E-4	0.008
18	24524289	A	C	18	26944325	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.63881795207452E-4	0.038
18	24524289	A	G	18	26944325	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.83545690516281E-5	0.036
18	24524289	A	T	18	26944325	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.02721185716899E-5	0.026
18	24524290	T	A	18	26944326	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999960395018093	0.972
18	24524290	T	C	18	26944326	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999756157570307	0.934
18	24524290	T	G	18	26944326	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999920816980236	0.982
18	24524291	A	C	18	26944327	y	y	splicing	CHST9(NM_031422:exon6:c.240+2T>G)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.240+2T>G;ENST00000581714:exon5:c.240+2T>G)	.	.	0.999988247793601	0.944
18	24524291	A	G	18	26944327	y	y	splicing	CHST9(NM_031422:exon6:c.240+2T>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.240+2T>C;ENST00000581714:exon5:c.240+2T>C)	.	.	0.98918007292081	0.632
18	24524291	A	T	18	26944327	y	y	splicing	CHST9(NM_031422:exon6:c.240+2T>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.240+2T>A;ENST00000581714:exon5:c.240+2T>A)	.	.	0.999988247793601	0.944
18	24524292	C	A	18	26944328	y	y	splicing	CHST9(NM_031422:exon6:c.240+1G>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.240+1G>T;ENST00000581714:exon5:c.240+1G>T)	.	.	0.999981760802075	0.948
18	24524292	C	G	18	26944328	y	y	splicing	CHST9(NM_031422:exon6:c.240+1G>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.240+1G>C;ENST00000581714:exon5:c.240+1G>C)	.	.	0.999981760802075	0.948
18	24524292	C	T	18	26944328	y	y	splicing	CHST9(NM_031422:exon6:c.240+1G>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.240+1G>A;ENST00000581714:exon5:c.240+1G>A)	.	.	0.999981760802075	0.948
18	24524293	C	A	18	26944329	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.G240T:p.Q80H;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.G240T:p.Q80H;ENSG00000154080:ENST00000581714:exon4:c.G240T:p.Q80H;	0.999989845216487	0.998
18	24524293	C	G	18	26944329	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.G240C:p.Q80H;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.G240C:p.Q80H;ENSG00000154080:ENST00000581714:exon4:c.G240C:p.Q80H;	0.99999675263713	0.998
18	24524293	C	T	18	26944329	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_031422:exon5:c.G240A:p.Q80Q;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.G240A:p.Q80Q;ENSG00000154080:ENST00000581714:exon4:c.G240A:p.Q80Q;	0.999971885547276	0.992
18	24524294	T	A	18	26944330	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.A239T:p.Q80L;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.A239T:p.Q80L;ENSG00000154080:ENST00000581714:exon4:c.A239T:p.Q80L;	0.999821908677967	1.0
18	24524294	T	C	18	26944330	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.A239G:p.Q80R;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.A239G:p.Q80R;ENSG00000154080:ENST00000581714:exon4:c.A239G:p.Q80R;	0.999420460315193	0.992
18	24524294	T	G	18	26944330	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.A239C:p.Q80P;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.A239C:p.Q80P;ENSG00000154080:ENST00000581714:exon4:c.A239C:p.Q80P;	0.999580564813799	0.992
18	24524295	G	A	18	26944331	y	y	exonic	CHST9	stopgain SNV	CHST9:NM_031422:exon5:c.C238T:p.Q80X;	exonic	ENSG00000154080	stopgain SNV	ENSG00000154080:ENST00000284224:exon5:c.C238T:p.Q80X;ENSG00000154080:ENST00000581714:exon4:c.C238T:p.Q80X;	0.999717021801485	0.99
18	24524295	G	C	18	26944331	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.C238G:p.Q80E;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.C238G:p.Q80E;ENSG00000154080:ENST00000581714:exon4:c.C238G:p.Q80E;	0.911944864620467	0.582
18	24524295	G	T	18	26944331	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.C238A:p.Q80K;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.C238A:p.Q80K;ENSG00000154080:ENST00000581714:exon4:c.C238A:p.Q80K;	0.832597937431844	0.55
18	24524329	C	A	18	26944365	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.G204T:p.M68I;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.G204T:p.M68I;ENSG00000154080:ENST00000581714:exon4:c.G204T:p.M68I;	0.103405968810206	0.222
18	24524329	C	G	18	26944365	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.G204C:p.M68I;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.G204C:p.M68I;ENSG00000154080:ENST00000581714:exon4:c.G204C:p.M68I;	0.027493152170874	0.196
18	24524329	C	T	18	26944365	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.G204A:p.M68I;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.G204A:p.M68I;ENSG00000154080:ENST00000581714:exon4:c.G204A:p.M68I;	0.539030861539497	0.36
18	24524330	A	C	18	26944366	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.T203G:p.M68R;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.T203G:p.M68R;ENSG00000154080:ENST00000581714:exon4:c.T203G:p.M68R;	0.0821917772398535	0.292
18	24524330	A	G	18	26944366	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.T203C:p.M68T;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.T203C:p.M68T;ENSG00000154080:ENST00000581714:exon4:c.T203C:p.M68T;	0.036801502765472	0.142
18	24524330	A	T	18	26944366	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_031422:exon5:c.T203A:p.M68K;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon5:c.T203A:p.M68K;ENSG00000154080:ENST00000581714:exon4:c.T203A:p.M68K;	0.248575069395964	0.556
18	24524331	C	A	18	26944367	y	y	splicing	CHST9(NM_031422:exon6:c.203-1G>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.203-1G>T;ENST00000581714:exon5:c.203-1G>T)	.	.	0.999981760802075	0.938
18	24524331	C	G	18	26944367	y	y	splicing	CHST9(NM_031422:exon6:c.203-1G>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.203-1G>C;ENST00000581714:exon5:c.203-1G>C)	.	.	0.999981760802075	0.938
18	24524331	C	T	18	26944367	y	y	splicing	CHST9(NM_031422:exon6:c.203-1G>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.203-1G>A;ENST00000581714:exon5:c.203-1G>A)	.	.	0.999981760802075	0.938
18	24524332	T	A	18	26944368	y	y	splicing	CHST9(NM_031422:exon6:c.203-2A>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.203-2A>T;ENST00000581714:exon5:c.203-2A>T)	.	.	0.999988247793601	0.928
18	24524332	T	C	18	26944368	y	y	splicing	CHST9(NM_031422:exon6:c.203-2A>G)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.203-2A>G;ENST00000581714:exon5:c.203-2A>G)	.	.	0.999988247793601	0.928
18	24524332	T	G	18	26944368	y	y	splicing	CHST9(NM_031422:exon6:c.203-2A>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon6:c.203-2A>C;ENST00000581714:exon5:c.203-2A>C)	.	.	0.999988247793601	0.928
18	24524333	G	A	18	26944369	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.033890745191216	0.046
18	24524333	G	C	18	26944369	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999922210759085	0.98
18	24524333	G	T	18	26944369	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.87586381160118	0.76
18	24524334	A	C	18	26944370	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0847105024750628	0.198
18	24524334	A	G	18	26944370	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0256149219382601	0.178
18	24524334	A	T	18	26944370	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.120441027419132	0.406
18	24524335	A	C	18	26944371	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.965305194233864	0.706
18	24524335	A	G	18	26944371	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.377436224986951	0.372
18	24524335	A	T	18	26944371	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.978204342367396	0.676
18	24524336	A	C	18	26944372	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.350429520916648	0.364
18	24524336	A	G	18	26944372	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0239746926786755	0.276
18	24524336	A	T	18	26944372	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.322440436273788	0.398
18	24524337	G	A	18	26944373	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.07656215824323E-4	0.016
18	24524337	G	C	18	26944373	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00130348603772368	0.08
18	24524337	G	T	18	26944373	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00241147769554099	0.064
18	24524338	A	C	18	26944374	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0569775478817026	0.236
18	24524338	A	G	18	26944374	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0366026625288783	0.278
18	24524338	A	T	18	26944374	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0731650649213799	0.32
18	24524339	G	A	18	26944375	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.928572037124547	0.768
18	24524339	G	C	18	26944375	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.953467062829602	0.704
18	24524339	G	T	18	26944375	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.943428694706664	0.75
18	24524340	A	C	18	26944376	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.587725410187114	0.504
18	24524340	A	G	18	26944376	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.109206163092925	0.368
18	24524340	A	T	18	26944376	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.813130050146729	0.57
18	24524341	A	C	18	26944377	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0272812128998535	0.37
18	24524341	A	G	18	26944377	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00198179746134772	0.136
18	24524341	A	T	18	26944377	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0319710714234361	0.452
18	24524342	A	C	18	26944378	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.74832591719247E-4	0.124
18	24524342	A	G	18	26944378	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.98468618980544E-5	0.072
18	24524342	A	T	18	26944378	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.868550483415E-4	0.162
18	24604072	T	A	18	27024108	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.42863973527116E-5	0.0
18	24604072	T	C	18	27024108	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.83277102901073E-5	0.0
18	24604072	T	G	18	27024108	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.78389654127837E-5	0.0
18	24604073	T	A	18	27024109	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.71180437600956E-5	0.004
18	24604073	T	C	18	27024109	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.07292238495418E-4	0.002
18	24604073	T	G	18	27024109	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.86621998596164E-5	0.002
18	24604074	A	C	18	27024110	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.954428952985398	0.744
18	24604074	A	G	18	27024110	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.971010425297554	0.778
18	24604074	A	T	18	27024110	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.985552802163129	0.674
18	24604075	C	A	18	27024111	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999979674332535	0.946
18	24604075	C	G	18	27024111	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999993849060142	0.946
18	24604075	C	T	18	27024111	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999978490439528	0.992
18	24604076	T	A	18	27024112	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999771182824313	0.854
18	24604076	T	C	18	27024112	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999816169439562	0.882
18	24604076	T	G	18	27024112	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.99944255907532	0.812
18	24604077	C	A	18	27024113	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.959494294974055	0.58
18	24604077	C	G	18	27024113	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.985086044946559	0.664
18	24604077	C	T	18	27024113	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.05060131379603E-6	0.004
18	24604078	A	C	18	27024114	y	y	splicing	CHST9(NM_031422:exon5:c.202+2T>G;NM_001256316:exon5:c.202+2T>G)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.202+2T>G;ENST00000581714:exon4:c.202+2T>G;ENST00000580774:exon5:c.202+2T>G)	.	.	0.999932560434043	0.814
18	24604078	A	G	18	27024114	y	y	splicing	CHST9(NM_031422:exon5:c.202+2T>C;NM_001256316:exon5:c.202+2T>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.202+2T>C;ENST00000581714:exon4:c.202+2T>C;ENST00000580774:exon5:c.202+2T>C)	.	.	0.999970186264084	0.808
18	24604078	A	T	18	27024114	y	y	splicing	CHST9(NM_031422:exon5:c.202+2T>A;NM_001256316:exon5:c.202+2T>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.202+2T>A;ENST00000581714:exon4:c.202+2T>A;ENST00000580774:exon5:c.202+2T>A)	.	.	0.999944857457982	0.86
18	24604079	C	A	18	27024115	y	y	splicing	CHST9(NM_031422:exon5:c.202+1G>T;NM_001256316:exon5:c.202+1G>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.202+1G>T;ENST00000581714:exon4:c.202+1G>T;ENST00000580774:exon5:c.202+1G>T)	.	.	0.999971317418422	0.912
18	24604079	C	G	18	27024115	y	y	splicing	CHST9(NM_031422:exon5:c.202+1G>C;NM_001256316:exon5:c.202+1G>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.202+1G>C;ENST00000581714:exon4:c.202+1G>C;ENST00000580774:exon5:c.202+1G>C)	.	.	0.999971317418422	0.91
18	24604079	C	T	18	27024115	y	y	splicing	CHST9(NM_031422:exon5:c.202+1G>A;NM_001256316:exon5:c.202+1G>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.202+1G>A;ENST00000581714:exon4:c.202+1G>A;ENST00000580774:exon5:c.202+1G>A)	.	.	0.999971317418422	0.914
18	24604080	T	A	18	27024116	y	y	exonic	CHST9	stopgain SNV	CHST9:NM_001256316:exon4:c.A202T:p.K68X;	exonic	ENSG00000154080	stopgain SNV	ENSG00000154080:ENST00000580774:exon4:c.A202T:p.K68X;	0.00374858046316822	0.2
18	24604080	T	C	18	27024116	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.A202G:p.K68E;CHST9:NM_031422:exon4:c.A202G:p.M68V;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.A202G:p.M68V;ENSG00000154080:ENST00000581714:exon3:c.A202G:p.M68V;ENSG00000154080:ENST00000580774:exon4:c.A202G:p.K68E;	0.00131791996162506	0.238
18	24604080	T	G	18	27024116	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.A202C:p.K68Q;CHST9:NM_031422:exon4:c.A202C:p.M68L;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.A202C:p.M68L;ENSG00000154080:ENST00000581714:exon3:c.A202C:p.M68L;ENSG00000154080:ENST00000580774:exon4:c.A202C:p.K68Q;	2.43066326207712E-4	0.068
18	24604081	G	A	18	27024117	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon4:c.C201T:p.I67I;CHST9:NM_031422:exon4:c.C201T:p.I67I;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.C201T:p.I67I;ENSG00000154080:ENST00000581714:exon3:c.C201T:p.I67I;ENSG00000154080:ENST00000580774:exon4:c.C201T:p.I67I;	5.60851139544043E-4	0.016
18	24604081	G	C	18	27024117	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.C201G:p.I67M;CHST9:NM_031422:exon4:c.C201G:p.I67M;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.C201G:p.I67M;ENSG00000154080:ENST00000581714:exon3:c.C201G:p.I67M;ENSG00000154080:ENST00000580774:exon4:c.C201G:p.I67M;	1.53380218604858E-4	0.024
18	24604081	G	T	18	27024117	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon4:c.C201A:p.I67I;CHST9:NM_031422:exon4:c.C201A:p.I67I;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.C201A:p.I67I;ENSG00000154080:ENST00000581714:exon3:c.C201A:p.I67I;ENSG00000154080:ENST00000580774:exon4:c.C201A:p.I67I;	2.92180021656643E-4	0.214
18	24604082	A	C	18	27024118	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.T200G:p.I67S;CHST9:NM_031422:exon4:c.T200G:p.I67S;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.T200G:p.I67S;ENSG00000154080:ENST00000581714:exon3:c.T200G:p.I67S;ENSG00000154080:ENST00000580774:exon4:c.T200G:p.I67S;	7.18988234797401E-5	0.006
18	24604082	A	G	18	27024118	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.T200C:p.I67T;CHST9:NM_031422:exon4:c.T200C:p.I67T;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.T200C:p.I67T;ENSG00000154080:ENST00000581714:exon3:c.T200C:p.I67T;ENSG00000154080:ENST00000580774:exon4:c.T200C:p.I67T;	4.16329719128998E-5	0.006
18	24604082	A	T	18	27024118	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.T200A:p.I67N;CHST9:NM_031422:exon4:c.T200A:p.I67N;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.T200A:p.I67N;ENSG00000154080:ENST00000581714:exon3:c.T200A:p.I67N;ENSG00000154080:ENST00000580774:exon4:c.T200A:p.I67N;	1.11268988973262E-4	0.002
18	24604120	T	A	18	27024156	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon4:c.A162T:p.G54G;CHST9:NM_031422:exon4:c.A162T:p.G54G;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.A162T:p.G54G;ENSG00000154080:ENST00000581714:exon3:c.A162T:p.G54G;ENSG00000154080:ENST00000580774:exon4:c.A162T:p.G54G;	5.85367218263688E-4	0.006
18	24604120	T	C	18	27024156	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon4:c.A162G:p.G54G;CHST9:NM_031422:exon4:c.A162G:p.G54G;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.A162G:p.G54G;ENSG00000154080:ENST00000581714:exon3:c.A162G:p.G54G;ENSG00000154080:ENST00000580774:exon4:c.A162G:p.G54G;	7.29225122674243E-4	0.026
18	24604120	T	G	18	27024156	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon4:c.A162C:p.G54G;CHST9:NM_031422:exon4:c.A162C:p.G54G;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.A162C:p.G54G;ENSG00000154080:ENST00000581714:exon3:c.A162C:p.G54G;ENSG00000154080:ENST00000580774:exon4:c.A162C:p.G54G;	0.00190604976017804	0.046
18	24604121	C	A	18	27024157	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.G161T:p.G54V;CHST9:NM_031422:exon4:c.G161T:p.G54V;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.G161T:p.G54V;ENSG00000154080:ENST00000581714:exon3:c.G161T:p.G54V;ENSG00000154080:ENST00000580774:exon4:c.G161T:p.G54V;	0.0817503509904211	0.372
18	24604121	C	G	18	27024157	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.G161C:p.G54A;CHST9:NM_031422:exon4:c.G161C:p.G54A;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.G161C:p.G54A;ENSG00000154080:ENST00000581714:exon3:c.G161C:p.G54A;ENSG00000154080:ENST00000580774:exon4:c.G161C:p.G54A;	0.00459302462054888	0.192
18	24604121	C	T	18	27024157	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon4:c.G161A:p.G54E;CHST9:NM_031422:exon4:c.G161A:p.G54E;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon4:c.G161A:p.G54E;ENSG00000154080:ENST00000581714:exon3:c.G161A:p.G54E;ENSG00000154080:ENST00000580774:exon4:c.G161A:p.G54E;	3.19582495714962E-4	0.102
18	24604122	C	A	18	27024158	y	y	splicing	CHST9(NM_031422:exon5:c.161-1G>T;NM_001256316:exon5:c.161-1G>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.161-1G>T;ENST00000581714:exon4:c.161-1G>T;ENST00000580774:exon5:c.161-1G>T)	.	.	0.999934918580187	0.938
18	24604122	C	G	18	27024158	y	y	splicing	CHST9(NM_031422:exon5:c.161-1G>C;NM_001256316:exon5:c.161-1G>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.161-1G>C;ENST00000581714:exon4:c.161-1G>C;ENST00000580774:exon5:c.161-1G>C)	.	.	0.99993264851383	0.938
18	24604122	C	T	18	27024158	y	y	splicing	CHST9(NM_031422:exon5:c.161-1G>A;NM_001256316:exon5:c.161-1G>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.161-1G>A;ENST00000581714:exon4:c.161-1G>A;ENST00000580774:exon5:c.161-1G>A)	.	.	0.999934918580187	0.938
18	24604123	T	A	18	27024159	y	y	splicing	CHST9(NM_031422:exon5:c.161-2A>T;NM_001256316:exon5:c.161-2A>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.161-2A>T;ENST00000581714:exon4:c.161-2A>T;ENST00000580774:exon5:c.161-2A>T)	.	.	0.999974434281325	0.834
18	24604123	T	C	18	27024159	y	y	splicing	CHST9(NM_031422:exon5:c.161-2A>G;NM_001256316:exon5:c.161-2A>G)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.161-2A>G;ENST00000581714:exon4:c.161-2A>G;ENST00000580774:exon5:c.161-2A>G)	.	.	0.999979810938302	0.818
18	24604123	T	G	18	27024159	y	y	splicing	CHST9(NM_031422:exon5:c.161-2A>C;NM_001256316:exon5:c.161-2A>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon5:c.161-2A>C;ENST00000581714:exon4:c.161-2A>C;ENST00000580774:exon5:c.161-2A>C)	.	.	0.999979810938302	0.82
18	24604124	G	A	18	27024160	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00173732212138388	0.164
18	24604124	G	C	18	27024160	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.850687471475249	0.584
18	24604124	G	T	18	27024160	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0221450898186212	0.248
18	24604125	A	C	18	27024161	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.31122304037247E-5	0.002
18	24604125	A	G	18	27024161	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.9850886127495E-5	0.012
18	24604125	A	T	18	27024161	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.44736236092138E-5	0.0
18	24604126	A	C	18	27024162	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00255662665725332	0.288
18	24604126	A	G	18	27024162	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00270070578879544	0.034
18	24604126	A	T	18	27024162	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00269973154197153	0.21
18	24604127	A	C	18	27024163	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00123066350903802	0.17
18	24604127	A	G	18	27024163	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.19847794013268E-4	0.012
18	24604127	A	T	18	27024163	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00158801440798903	0.168
18	24604128	A	C	18	27024164	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.8133374314518E-4	0.024
18	24604128	A	G	18	27024164	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.32627531349132E-4	0.006
18	24604128	A	T	18	27024164	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00105945097646221	0.026
18	24604129	A	C	18	27024165	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.7630442953089E-4	0.038
18	24604129	A	G	18	27024165	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.38053480759448E-4	0.01
18	24604129	A	T	18	27024165	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.05192958224339E-4	0.044
18	24604130	G	A	18	27024166	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.01776119343315E-5	0.01
18	24604130	G	C	18	27024166	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.56141932805094E-4	0.038
18	24604130	G	T	18	27024166	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.71023900598748E-4	0.048
18	24604131	A	C	18	27024167	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.076846476721163	0.372
18	24604131	A	G	18	27024167	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0345707767796778	0.268
18	24604131	A	T	18	27024167	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.13669547133138	0.416
18	24604132	A	C	18	27024168	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00533151059892623	0.202
18	24604132	A	G	18	27024168	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00577564740690655	0.074
18	24604132	A	T	18	27024168	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0044122390159546	0.218
18	24604133	G	A	18	27024169	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.18642434632937E-5	0.01
18	24604133	G	C	18	27024169	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.36011365372567E-5	0.002
18	24604133	G	T	18	27024169	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.06916260055422E-5	0.002
18	24628421	A	C	18	27048457	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.70373002829532E-4	0.018
18	24628421	A	G	18	27048457	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00180375965525554	0.022
18	24628421	A	T	18	27048457	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.70373002829532E-4	0.026
18	24628422	A	C	18	27048458	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0045802311785222	0.038
18	24628422	A	G	18	27048458	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00447553226779749	0.028
18	24628422	A	T	18	27048458	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00660885653819004	0.026
18	24628423	T	A	18	27048459	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.5361378873529E-5	0.002
18	24628423	T	C	18	27048459	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.36364744607663E-5	0.004
18	24628423	T	G	18	27048459	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00262976816626488	0.122
18	24628424	C	A	18	27048460	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.995960087091403	0.598
18	24628424	C	G	18	27048460	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.989299110313316	0.648
18	24628424	C	T	18	27048460	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.993269004303776	0.648
18	24628425	T	A	18	27048461	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.917323108473702	0.658
18	24628425	T	C	18	27048461	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.769422645156525	0.57
18	24628425	T	G	18	27048461	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.794389179142153	0.616
18	24628426	T	A	18	27048462	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.99782683902841	0.952
18	24628426	T	C	18	27048462	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.721078621526477	0.546
18	24628426	T	G	18	27048462	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.992078983902425	0.922
18	24628427	A	C	18	27048463	y	y	splicing	CHST9(NM_031422:exon4:c.160+2T>G;NM_001256316:exon4:c.160+2T>G)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.160+2T>G;ENST00000581714:exon3:c.160+2T>G;ENST00000580774:exon4:c.160+2T>G)	.	.	0.999988247793601	0.93
18	24628427	A	G	18	27048463	y	y	splicing	CHST9(NM_031422:exon4:c.160+2T>C;NM_001256316:exon4:c.160+2T>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.160+2T>C;ENST00000581714:exon3:c.160+2T>C;ENST00000580774:exon4:c.160+2T>C)	.	.	0.996388929962285	0.694
18	24628427	A	T	18	27048463	y	y	splicing	CHST9(NM_031422:exon4:c.160+2T>A;NM_001256316:exon4:c.160+2T>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.160+2T>A;ENST00000581714:exon3:c.160+2T>A;ENST00000580774:exon4:c.160+2T>A)	.	.	0.999988247793601	0.93
18	24628428	C	A	18	27048464	y	y	splicing	CHST9(NM_031422:exon4:c.160+1G>T;NM_001256316:exon4:c.160+1G>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.160+1G>T;ENST00000581714:exon3:c.160+1G>T;ENST00000580774:exon4:c.160+1G>T)	.	.	0.999990361384395	0.938
18	24628428	C	G	18	27048464	y	y	splicing	CHST9(NM_031422:exon4:c.160+1G>C;NM_001256316:exon4:c.160+1G>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.160+1G>C;ENST00000581714:exon3:c.160+1G>C;ENST00000580774:exon4:c.160+1G>C)	.	.	0.999990361384395	0.938
18	24628428	C	T	18	27048464	y	y	splicing	CHST9(NM_031422:exon4:c.160+1G>A;NM_001256316:exon4:c.160+1G>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.160+1G>A;ENST00000581714:exon3:c.160+1G>A;ENST00000580774:exon4:c.160+1G>A)	.	.	0.999990361384395	0.938
18	24628429	C	A	18	27048465	y	y	exonic	CHST9	stopgain SNV	CHST9:NM_001256316:exon3:c.G160T:p.G54X;CHST9:NM_031422:exon3:c.G160T:p.G54X;	exonic	ENSG00000154080	stopgain SNV	ENSG00000154080:ENST00000284224:exon3:c.G160T:p.G54X;ENSG00000154080:ENST00000581714:exon2:c.G160T:p.G54X;ENSG00000154080:ENST00000580774:exon3:c.G160T:p.G54X;	0.999922401787822	0.94
18	24628429	C	G	18	27048465	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon3:c.G160C:p.G54R;CHST9:NM_031422:exon3:c.G160C:p.G54R;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.G160C:p.G54R;ENSG00000154080:ENST00000581714:exon2:c.G160C:p.G54R;ENSG00000154080:ENST00000580774:exon3:c.G160C:p.G54R;	0.999913430506494	0.932
18	24628429	C	T	18	27048465	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon3:c.G160A:p.G54R;CHST9:NM_031422:exon3:c.G160A:p.G54R;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.G160A:p.G54R;ENSG00000154080:ENST00000581714:exon2:c.G160A:p.G54R;ENSG00000154080:ENST00000580774:exon3:c.G160A:p.G54R;	0.99992762512155	0.958
18	24628430	T	A	18	27048466	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon3:c.A159T:p.S53S;CHST9:NM_031422:exon3:c.A159T:p.S53S;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.A159T:p.S53S;ENSG00000154080:ENST00000581714:exon2:c.A159T:p.S53S;ENSG00000154080:ENST00000580774:exon3:c.A159T:p.S53S;	0.233113238652039	0.52
18	24628430	T	C	18	27048466	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon3:c.A159G:p.S53S;CHST9:NM_031422:exon3:c.A159G:p.S53S;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.A159G:p.S53S;ENSG00000154080:ENST00000581714:exon2:c.A159G:p.S53S;ENSG00000154080:ENST00000580774:exon3:c.A159G:p.S53S;	0.311854282313719	0.658
18	24628430	T	G	18	27048466	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon3:c.A159C:p.S53S;CHST9:NM_031422:exon3:c.A159C:p.S53S;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.A159C:p.S53S;ENSG00000154080:ENST00000581714:exon2:c.A159C:p.S53S;ENSG00000154080:ENST00000580774:exon3:c.A159C:p.S53S;	0.455796113853447	0.654
18	24628431	G	A	18	27048467	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon3:c.C158T:p.S53L;CHST9:NM_031422:exon3:c.C158T:p.S53L;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.C158T:p.S53L;ENSG00000154080:ENST00000581714:exon2:c.C158T:p.S53L;ENSG00000154080:ENST00000580774:exon3:c.C158T:p.S53L;	0.99922756028186	0.678
18	24628431	G	C	18	27048467	y	y	exonic	CHST9	stopgain SNV	CHST9:NM_001256316:exon3:c.C158G:p.S53X;CHST9:NM_031422:exon3:c.C158G:p.S53X;	exonic	ENSG00000154080	stopgain SNV	ENSG00000154080:ENST00000284224:exon3:c.C158G:p.S53X;ENSG00000154080:ENST00000581714:exon2:c.C158G:p.S53X;ENSG00000154080:ENST00000580774:exon3:c.C158G:p.S53X;	0.948994936098383	0.682
18	24628431	G	T	18	27048467	y	y	exonic	CHST9	stopgain SNV	CHST9:NM_001256316:exon3:c.C158A:p.S53X;CHST9:NM_031422:exon3:c.C158A:p.S53X;	exonic	ENSG00000154080	stopgain SNV	ENSG00000154080:ENST00000284224:exon3:c.C158A:p.S53X;ENSG00000154080:ENST00000581714:exon2:c.C158A:p.S53X;ENSG00000154080:ENST00000580774:exon3:c.C158A:p.S53X;	0.966091263731104	0.846
18	24628466	C	A	18	27048502	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon3:c.G123T:p.G41G;CHST9:NM_031422:exon3:c.G123T:p.G41G;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.G123T:p.G41G;ENSG00000154080:ENST00000581714:exon2:c.G123T:p.G41G;ENSG00000154080:ENST00000580774:exon3:c.G123T:p.G41G;	3.837353894408E-4	0.0
18	24628466	C	G	18	27048502	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon3:c.G123C:p.G41G;CHST9:NM_031422:exon3:c.G123C:p.G41G;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.G123C:p.G41G;ENSG00000154080:ENST00000581714:exon2:c.G123C:p.G41G;ENSG00000154080:ENST00000580774:exon3:c.G123C:p.G41G;	0.00161847979216895	0.038
18	24628466	C	T	18	27048502	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon3:c.G123A:p.G41G;CHST9:NM_031422:exon3:c.G123A:p.G41G;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.G123A:p.G41G;ENSG00000154080:ENST00000581714:exon2:c.G123A:p.G41G;ENSG00000154080:ENST00000580774:exon3:c.G123A:p.G41G;	7.10360281115924E-4	0.01
18	24628467	C	A	18	27048503	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon3:c.G122T:p.G41V;CHST9:NM_031422:exon3:c.G122T:p.G41V;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.G122T:p.G41V;ENSG00000154080:ENST00000581714:exon2:c.G122T:p.G41V;ENSG00000154080:ENST00000580774:exon3:c.G122T:p.G41V;	0.977185418932051	0.818
18	24628467	C	G	18	27048503	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon3:c.G122C:p.G41A;CHST9:NM_031422:exon3:c.G122C:p.G41A;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.G122C:p.G41A;ENSG00000154080:ENST00000581714:exon2:c.G122C:p.G41A;ENSG00000154080:ENST00000580774:exon3:c.G122C:p.G41A;	0.913518310344591	0.728
18	24628467	C	T	18	27048503	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon3:c.G122A:p.G41E;CHST9:NM_031422:exon3:c.G122A:p.G41E;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon3:c.G122A:p.G41E;ENSG00000154080:ENST00000581714:exon2:c.G122A:p.G41E;ENSG00000154080:ENST00000580774:exon3:c.G122A:p.G41E;	0.121764125047445	0.324
18	24628468	C	A	18	27048504	y	y	splicing	CHST9(NM_031422:exon4:c.122-1G>T;NM_001256316:exon4:c.122-1G>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.122-1G>T;ENST00000581714:exon3:c.122-1G>T;ENST00000580774:exon4:c.122-1G>T)	.	.	0.999990361384395	0.938
18	24628468	C	G	18	27048504	y	y	splicing	CHST9(NM_031422:exon4:c.122-1G>C;NM_001256316:exon4:c.122-1G>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.122-1G>C;ENST00000581714:exon3:c.122-1G>C;ENST00000580774:exon4:c.122-1G>C)	.	.	0.999990361384395	0.938
18	24628468	C	T	18	27048504	y	y	splicing	CHST9(NM_031422:exon4:c.122-1G>A;NM_001256316:exon4:c.122-1G>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.122-1G>A;ENST00000581714:exon3:c.122-1G>A;ENST00000580774:exon4:c.122-1G>A)	.	.	0.999990361384395	0.938
18	24628469	T	A	18	27048505	y	y	splicing	CHST9(NM_031422:exon4:c.122-2A>T;NM_001256316:exon4:c.122-2A>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.122-2A>T;ENST00000581714:exon3:c.122-2A>T;ENST00000580774:exon4:c.122-2A>T)	.	.	0.999988247793601	0.93
18	24628469	T	C	18	27048505	y	y	splicing	CHST9(NM_031422:exon4:c.122-2A>G;NM_001256316:exon4:c.122-2A>G)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.122-2A>G;ENST00000581714:exon3:c.122-2A>G;ENST00000580774:exon4:c.122-2A>G)	.	.	0.999988247793601	0.93
18	24628469	T	G	18	27048505	y	y	splicing	CHST9(NM_031422:exon4:c.122-2A>C;NM_001256316:exon4:c.122-2A>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon4:c.122-2A>C;ENST00000581714:exon3:c.122-2A>C;ENST00000580774:exon4:c.122-2A>C)	.	.	0.999988247793601	0.93
18	24628470	G	A	18	27048506	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0666203849390238	0.13
18	24628470	G	C	18	27048506	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999813110272972	0.902
18	24628470	G	T	18	27048506	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.755057786217981	0.568
18	24628471	A	C	18	27048507	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.85345714664995E-4	0.004
18	24628471	A	G	18	27048507	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.23131283947261E-4	0.018
18	24628471	A	T	18	27048507	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	7.65456707554879E-4	0.026
18	24628472	A	C	18	27048508	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.996130517348751	0.912
18	24628472	A	G	18	27048508	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.49928144186783	0.608
18	24628472	A	T	18	27048508	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.996433273377136	0.898
18	24628473	A	C	18	27048509	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999825087746842	0.928
18	24628473	A	G	18	27048509	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.100652112194378	0.468
18	24628473	A	T	18	27048509	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.993747554120412	0.808
18	24628474	T	A	18	27048510	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.61202339459124E-4	0.006
18	24628474	T	C	18	27048510	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.94568555742669E-4	0.0
18	24628474	T	G	18	27048510	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.1854309047842E-4	0.002
18	24628475	G	A	18	27048511	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.25598542619508E-4	0.036
18	24628475	G	C	18	27048511	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0144125136240207	0.19
18	24628475	G	T	18	27048511	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00384938252774532	0.174
18	24628476	A	C	18	27048512	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999047129207295	0.876
18	24628476	A	G	18	27048512	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.499711960663189	0.566
18	24628476	A	T	18	27048512	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999292007234783	0.936
18	24628477	G	A	18	27048513	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00187665821850844	0.298
18	24628477	G	C	18	27048513	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	8.30548157006439E-4	0.138
18	24628477	G	T	18	27048513	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00121287567639936	0.128
18	24628478	A	C	18	27048514	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999093621847292	0.936
18	24628478	A	G	18	27048514	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.982220080365229	0.668
18	24628478	A	T	18	27048514	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999309795526137	0.944
18	24628479	A	C	18	27048515	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.994732630413336	0.806
18	24628479	A	G	18	27048515	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.246003948598514	0.448
18	24628479	A	T	18	27048515	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.997199316779193	0.882
18	24722645	T	A	18	27142681	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.06205474668777E-4	0.014
18	24722645	T	C	18	27142681	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.80478267227954E-4	0.014
18	24722645	T	G	18	27142681	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.60044604559226E-4	0.012
18	24722646	G	A	18	27142682	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.0015541053209252	0.004
18	24722646	G	C	18	27142682	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.11513371114094E-4	0.002
18	24722646	G	T	18	27142682	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.53778106319865E-4	0.0
18	24722647	T	A	18	27142683	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.49036401354959E-5	0.006
18	24722647	T	C	18	27142683	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	1.1161514870512E-4	0.004
18	24722647	T	G	18	27142683	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	3.74248899540819E-4	0.024
18	24722648	G	A	18	27142684	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.17626494069856E-4	0.012
18	24722648	G	C	18	27142684	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.49325013298186E-4	0.06
18	24722648	G	T	18	27142684	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.09577390174726E-5	0.026
18	24722649	T	A	18	27142685	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.739164841757079	0.404
18	24722649	T	C	18	27142685	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.93296954391917	0.406
18	24722649	T	G	18	27142685	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.53119362997037	0.376
18	24722650	T	A	18	27142686	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999929958910683	0.922
18	24722650	T	C	18	27142686	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999138867375376	0.924
18	24722650	T	G	18	27142686	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999928916390346	0.92
18	24722651	A	C	18	27142687	y	y	splicing	CHST9(NM_031422:exon3:c.121+2T>G;NM_001256316:exon3:c.121+2T>G)	.	.	splicing	ENSG00000154080(ENST00000284224:exon3:c.121+2T>G;ENST00000581714:exon2:c.121+2T>G;ENST00000580774:exon3:c.121+2T>G)	.	.	0.999993519952936	0.924
18	24722651	A	G	18	27142687	y	y	splicing	CHST9(NM_031422:exon3:c.121+2T>C;NM_001256316:exon3:c.121+2T>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon3:c.121+2T>C;ENST00000581714:exon2:c.121+2T>C;ENST00000580774:exon3:c.121+2T>C)	.	.	0.989490785358834	0.594
18	24722651	A	T	18	27142687	y	y	splicing	CHST9(NM_031422:exon3:c.121+2T>A;NM_001256316:exon3:c.121+2T>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon3:c.121+2T>A;ENST00000581714:exon2:c.121+2T>A;ENST00000580774:exon3:c.121+2T>A)	.	.	0.999993519952936	0.92
18	24722652	C	A	18	27142688	y	y	splicing	CHST9(NM_031422:exon3:c.121+1G>T;NM_001256316:exon3:c.121+1G>T)	.	.	splicing	ENSG00000154080(ENST00000284224:exon3:c.121+1G>T;ENST00000581714:exon2:c.121+1G>T;ENST00000580774:exon3:c.121+1G>T)	.	.	0.999988247793601	0.936
18	24722652	C	G	18	27142688	y	y	splicing	CHST9(NM_031422:exon3:c.121+1G>C;NM_001256316:exon3:c.121+1G>C)	.	.	splicing	ENSG00000154080(ENST00000284224:exon3:c.121+1G>C;ENST00000581714:exon2:c.121+1G>C;ENST00000580774:exon3:c.121+1G>C)	.	.	0.999988247793601	0.936
18	24722652	C	T	18	27142688	y	y	splicing	CHST9(NM_031422:exon3:c.121+1G>A;NM_001256316:exon3:c.121+1G>A)	.	.	splicing	ENSG00000154080(ENST00000284224:exon3:c.121+1G>A;ENST00000581714:exon2:c.121+1G>A;ENST00000580774:exon3:c.121+1G>A)	.	.	0.999988247793601	0.932
18	24722653	C	A	18	27142689	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon2:c.G121T:p.G41W;CHST9:NM_031422:exon2:c.G121T:p.G41W;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.G121T:p.G41W;ENSG00000154080:ENST00000581714:exon1:c.G121T:p.G41W;ENSG00000154080:ENST00000580774:exon2:c.G121T:p.G41W;	0.999985029409143	0.954
18	24722653	C	G	18	27142689	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon2:c.G121C:p.G41R;CHST9:NM_031422:exon2:c.G121C:p.G41R;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.G121C:p.G41R;ENSG00000154080:ENST00000581714:exon1:c.G121C:p.G41R;ENSG00000154080:ENST00000580774:exon2:c.G121C:p.G41R;	0.999983564971931	0.998
18	24722653	C	T	18	27142689	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon2:c.G121A:p.G41R;CHST9:NM_031422:exon2:c.G121A:p.G41R;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.G121A:p.G41R;ENSG00000154080:ENST00000581714:exon1:c.G121A:p.G41R;ENSG00000154080:ENST00000580774:exon2:c.G121A:p.G41R;	0.999990355907036	0.998
18	24722654	T	A	18	27142690	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon2:c.A120T:p.T40T;CHST9:NM_031422:exon2:c.A120T:p.T40T;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.A120T:p.T40T;ENSG00000154080:ENST00000581714:exon1:c.A120T:p.T40T;ENSG00000154080:ENST00000580774:exon2:c.A120T:p.T40T;	0.99885359948953	0.98
18	24722654	T	C	18	27142690	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon2:c.A120G:p.T40T;CHST9:NM_031422:exon2:c.A120G:p.T40T;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.A120G:p.T40T;ENSG00000154080:ENST00000581714:exon1:c.A120G:p.T40T;ENSG00000154080:ENST00000580774:exon2:c.A120G:p.T40T;	0.99779205489835	0.946
18	24722654	T	G	18	27142690	y	y	exonic	CHST9	synonymous SNV	CHST9:NM_001256316:exon2:c.A120C:p.T40T;CHST9:NM_031422:exon2:c.A120C:p.T40T;	exonic	ENSG00000154080	synonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.A120C:p.T40T;ENSG00000154080:ENST00000581714:exon1:c.A120C:p.T40T;ENSG00000154080:ENST00000580774:exon2:c.A120C:p.T40T;	0.997748331656945	0.922
18	24722655	G	A	18	27142691	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon2:c.C119T:p.T40I;CHST9:NM_031422:exon2:c.C119T:p.T40I;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.C119T:p.T40I;ENSG00000154080:ENST00000581714:exon1:c.C119T:p.T40I;ENSG00000154080:ENST00000580774:exon2:c.C119T:p.T40I;	0.997909127500082	0.934
18	24722655	G	C	18	27142691	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon2:c.C119G:p.T40R;CHST9:NM_031422:exon2:c.C119G:p.T40R;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.C119G:p.T40R;ENSG00000154080:ENST00000581714:exon1:c.C119G:p.T40R;ENSG00000154080:ENST00000580774:exon2:c.C119G:p.T40R;	0.804628953138013	0.43
18	24722655	G	T	18	27142691	y	y	exonic	CHST9	nonsynonymous SNV	CHST9:NM_001256316:exon2:c.C119A:p.T40K;CHST9:NM_031422:exon2:c.C119A:p.T40K;	exonic	ENSG00000154080	nonsynonymous SNV	ENSG00000154080:ENST00000284224:exon2:c.C119A:p.T40K;ENSG00000154080:ENST00000581714:exon1:c.C119A:p.T40K;ENSG00000154080:ENST00000580774:exon2:c.C119A:p.T40K;	0.714392839083065	0.562
18	24722868	A	C	18	27142904	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.00770516818573016	0.102
18	24722868	A	G	18	27142904	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.00798250344788198	0.104
18	24722868	A	T	18	27142904	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.0130736913300544	0.102
18	24722869	C	A	18	27142905	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.813295922035737	0.642
18	24722869	C	G	18	27142905	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.311775292970247	0.524
18	24722869	C	T	18	27142905	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.0778418991182978	0.302
18	24722870	C	A	18	27142906	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999980255680118	0.788
18	24722870	C	G	18	27142906	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999980255680118	0.75
18	24722870	C	T	18	27142906	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999962958601995	0.806
18	24722871	T	A	18	27142907	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999980516178445	0.794
18	24722871	T	C	18	27142907	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999989614548265	0.77
18	24722871	T	G	18	27142907	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999989614548265	0.774
18	24722872	A	C	18	27142908	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.33386508408064	0.57
18	24722872	A	G	18	27142908	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	4.29884388007328E-5	0.0
18	24722872	A	T	18	27142908	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.00592290540591835	0.24
18	24722873	G	A	18	27142909	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	5.32653123302313E-5	0.0
18	24722873	G	C	18	27142909	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	4.92754252278634E-5	0.002
18	24722873	G	T	18	27142909	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	1.00013368679403E-4	0.002
18	24722874	A	C	18	27142910	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.927981631007596	0.606
18	24722874	A	G	18	27142910	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.00356173426836324	0.086
18	24722874	A	T	18	27142910	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.929197551732234	0.576
18	24722875	A	C	18	27142911	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.999936197812853	0.962
18	24722875	A	G	18	27142911	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	7.46529939011395E-4	0.046
18	24722875	A	T	18	27142911	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.417320223083089	0.476
18	24722876	T	A	18	27142912	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	5.86680084681934E-4	0.012
18	24722876	T	C	18	27142912	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.998439651072692	0.896
18	24722876	T	G	18	27142912	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	6.30975389271167E-4	0.008
18	24722877	T	A	18	27142913	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	1.25967101052035E-4	0.0
18	24722877	T	C	18	27142913	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.999042963514376	1.0
18	24722877	T	G	18	27142913	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	8.5814923219142E-5	0.0
18	24722878	T	A	18	27142914	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	1.55908716824608E-5	0.002
18	24722878	T	C	18	27142914	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.539423040835192	0.84
18	24722878	T	G	18	27142914	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	1.65047354028333E-5	0.002
18	24722879	T	A	18	27142915	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	1.65047354028333E-5	0.0
18	24722879	T	C	18	27142915	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	6.76502159648149E-5	0.002
18	24722879	T	G	18	27142915	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	1.55908716824608E-5	0.002
18	24722880	A	C	18	27142916	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.834134821284718	0.612
18	24722880	A	G	18	27142916	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.00210103708041347	0.194
18	24722880	A	T	18	27142916	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.730244997695117	0.67
18	24722881	A	C	18	27142917	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.00223347012051066	0.152
18	24722881	A	G	18	27142917	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	2.94788361788924E-4	0.002
18	24722881	A	T	18	27142917	y	y	intronic	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.00240744283004296	0.198
18	24765092	G	A	18	27185128	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	5.53187350176215E-4	0.014
18	24765092	G	C	18	27185128	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.41150226059825E-4	0.03
18	24765092	G	T	18	27185128	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.42192221052483E-4	0.012
18	24765093	C	A	18	27185129	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.43636831410078E-4	0.024
18	24765093	C	G	18	27185129	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.36569473771786E-4	0.002
18	24765093	C	T	18	27185129	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	6.05030087672996E-4	0.01
18	24765094	G	A	18	27185130	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.286935095489E-5	0.006
18	24765094	G	C	18	27185130	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	4.17564647886646E-5	0.008
18	24765094	G	T	18	27185130	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.20603901027743E-5	0.002
18	24765095	G	A	18	27185131	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.00196412398671489	0.066
18	24765095	G	C	18	27185131	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	9.20789583333076E-4	0.114
18	24765095	G	T	18	27185131	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	2.45629635571578E-4	0.04
18	24765096	T	A	18	27185132	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.969769449104301	0.6
18	24765096	T	C	18	27185132	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.991915348998566	0.82
18	24765096	T	G	18	27185132	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.985895224519275	0.684
18	24765097	T	A	18	27185133	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999834475414782	0.88
18	24765097	T	C	18	27185133	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.762413872018836	0.658
18	24765097	T	G	18	27185133	y	y	intronic	CHST9	.	.	ncRNA_intronic	ENSG00000260372	.	.	0.999830482277896	0.864
18	24765098	A	C	18	27185134	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999990611969007	0.894
18	24765098	A	G	18	27185134	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.984245752648768	0.518
18	24765098	A	T	18	27185134	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999988390207502	0.914
18	24765099	C	A	18	27185135	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999990611969007	0.892
18	24765099	C	G	18	27185135	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999990611969007	0.884
18	24765099	C	T	18	27185135	y	y	splicing	CHST9	.	.	splicing	ENSG00000154080	.	.	0.999990611969007	0.896
18	24765100	C	A	18	27185136	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.999586634091814	0.924
18	24765100	C	G	18	27185136	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.999919409854444	0.936
18	24765100	C	T	18	27185136	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.999953167076601	0.996
18	24765101	T	A	18	27185137	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.997476250564238	0.794
18	24765101	T	C	18	27185137	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.996966754724479	0.872
18	24765101	T	G	18	27185137	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.996002869933361	0.8
18	24765102	C	A	18	27185138	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	0.00125446653508349	0.034
18	24765102	C	G	18	27185138	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	1.82588801643954E-5	0.0
18	24765102	C	T	18	27185138	y	y	UTR5	CHST9	.	.	ncRNA_UTR5	ENSG00000154080	.	.	2.56559727032719E-5	0.0
18	25532322	C	A	18	27952358	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon16:c.G2516T:p.G839V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon15:c.G2423T:p.G808V;ENSG00000170558:ENST00000269141:exon16:c.G2516T:p.G839V;	0.976903206612432	0.764
18	25532322	C	G	18	27952358	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon16:c.G2516C:p.G839A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon15:c.G2423C:p.G808A;ENSG00000170558:ENST00000269141:exon16:c.G2516C:p.G839A;	0.961901322443339	0.81
18	25532322	C	T	18	27952358	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon16:c.G2516A:p.G839D;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon15:c.G2423A:p.G808D;ENSG00000170558:ENST00000269141:exon16:c.G2516A:p.G839D;	0.975288696061165	0.702
18	25532323	C	A	18	27952359	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon16:c.G2515T:p.G839C;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon15:c.G2422T:p.G808C;ENSG00000170558:ENST00000269141:exon16:c.G2515T:p.G839C;	0.999610094159667	0.97
18	25532323	C	G	18	27952359	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon16:c.G2515C:p.G839R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon15:c.G2422C:p.G808R;ENSG00000170558:ENST00000269141:exon16:c.G2515C:p.G839R;	0.999577181338778	0.898
18	25532323	C	T	18	27952359	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon16:c.G2515A:p.G839S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon15:c.G2422A:p.G808S;ENSG00000170558:ENST00000269141:exon16:c.G2515A:p.G839S;	0.999611722338675	0.834
18	25532324	C	A	18	27952360	y	y	splicing	CDH2(NM_001792:exon17:c.2515-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon17:c.2515-1G>T;ENST00000399380:exon16:c.2422-1G>T)	.	.	0.999984967332678	0.938
18	25532324	C	G	18	27952360	y	y	splicing	CDH2(NM_001792:exon17:c.2515-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon17:c.2515-1G>C;ENST00000399380:exon16:c.2422-1G>C)	.	.	0.999984967332678	0.936
18	25532324	C	T	18	27952360	y	y	splicing	CDH2(NM_001792:exon17:c.2515-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon17:c.2515-1G>A;ENST00000399380:exon16:c.2422-1G>A)	.	.	0.999984967332678	0.938
18	25532325	T	A	18	27952361	y	y	splicing	CDH2(NM_001792:exon17:c.2515-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon17:c.2515-2A>T;ENST00000399380:exon16:c.2422-2A>T)	.	.	0.999986741007567	0.938
18	25532325	T	C	18	27952361	y	y	splicing	CDH2(NM_001792:exon17:c.2515-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon17:c.2515-2A>G;ENST00000399380:exon16:c.2422-2A>G)	.	.	0.999986741007567	0.938
18	25532325	T	G	18	27952361	y	y	splicing	CDH2(NM_001792:exon17:c.2515-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon17:c.2515-2A>C;ENST00000399380:exon16:c.2422-2A>C)	.	.	0.999986741007567	0.938
18	25532326	G	A	18	27952362	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.03144307839142E-4	0.012
18	25532326	G	C	18	27952362	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99169402945414	0.624
18	25532326	G	T	18	27952362	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.336389483824537	0.426
18	25532327	C	A	18	27952363	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.69975885765292E-5	0.008
18	25532327	C	G	18	27952363	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.49496498880889E-5	0.006
18	25532327	C	T	18	27952363	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.70670672596347E-5	0.024
18	25532328	A	C	18	27952364	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.271872742413648	0.26
18	25532328	A	G	18	27952364	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.04329256076843E-5	0.022
18	25532328	A	T	18	27952364	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.980211328743438	0.804
18	25532329	A	C	18	27952365	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.992856073738673	0.832
18	25532329	A	G	18	27952365	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.24290712518811E-4	0.004
18	25532329	A	T	18	27952365	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00575772363126579	0.192
18	25532330	T	A	18	27952366	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.4891188956421E-5	0.0
18	25532330	T	C	18	27952366	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.995867687392847	0.978
18	25532330	T	G	18	27952366	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.16036384786863E-5	0.002
18	25532331	T	A	18	27952367	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.67944982512943E-5	0.0
18	25532331	T	C	18	27952367	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.592659815546309	0.728
18	25532331	T	G	18	27952367	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.58645906776164E-5	0.0
18	25532332	T	A	18	27952368	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.12261319916676E-4	0.032
18	25532332	T	C	18	27952368	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.14309360584229E-4	0.006
18	25532332	T	G	18	27952368	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.57639475607013E-4	0.014
18	25532333	G	A	18	27952369	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00146517694686548	0.018
18	25532333	G	C	18	27952369	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.236045116715423	0.334
18	25532333	G	T	18	27952369	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.125744419683902	0.264
18	25532334	G	A	18	27952370	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.88935190969971E-4	0.018
18	25532334	G	C	18	27952370	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.011596647702007	0.152
18	25532334	G	T	18	27952370	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.15260029813057	0.192
18	25532335	A	C	18	27952371	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.5883202944617	0.534
18	25532335	A	G	18	27952371	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00387176536813621	0.12
18	25532335	A	T	18	27952371	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.624856287408689	0.582
18	25543313	C	A	18	27963349	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	9.69162706987901E-4	0.058
18	25543313	C	G	18	27963349	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	2.95725899878467E-4	0.01
18	25543313	C	T	18	27963349	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	6.39984893499052E-4	0.044
18	25543314	T	A	18	27963350	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	4.45618325016646E-4	0.01
18	25543314	T	C	18	27963350	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	4.17014716175703E-4	0.01
18	25543314	T	G	18	27963350	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	2.96815135200452E-4	0.006
18	25543315	C	A	18	27963351	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	2.51715955169506E-5	0.02
18	25543315	C	G	18	27963351	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	5.22692302598111E-5	0.006
18	25543315	C	T	18	27963351	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	1.39629511875092E-4	0.01
18	25543316	T	A	18	27963352	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	8.05531563526268E-5	0.038
18	25543316	T	C	18	27963352	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	1.34277867619382E-4	0.062
18	25543316	T	G	18	27963352	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	1.2265934347238E-4	0.006
18	25543317	G	A	18	27963353	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	5.20151879724173E-4	0.086
18	25543317	G	C	18	27963353	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	5.07316108056208E-4	0.056
18	25543317	G	T	18	27963353	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	4.72701169517227E-5	0.022
18	25543318	T	A	18	27963354	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	0.999979364171996	0.804
18	25543318	T	C	18	27963354	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	0.996137535487012	0.69
18	25543318	T	G	18	27963354	y	y	intronic	CDH2	.	.	ncRNA_intronic	ENSG00000227279	.	.	0.999971266439099	0.8
18	25543319	A	C	18	27963355	y	y	splicing	CDH2(NM_001792:exon16:c.2514+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon16:c.2514+2T>G;ENST00000399380:exon15:c.2421+2T>G)	.	.	0.999988247793601	0.932
18	25543319	A	G	18	27963355	y	y	splicing	CDH2(NM_001792:exon16:c.2514+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon16:c.2514+2T>C;ENST00000399380:exon15:c.2421+2T>C)	.	.	0.996388929962285	0.704
18	25543319	A	T	18	27963355	y	y	splicing	CDH2(NM_001792:exon16:c.2514+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon16:c.2514+2T>A;ENST00000399380:exon15:c.2421+2T>A)	.	.	0.999988247793601	0.932
18	25543320	C	A	18	27963356	y	y	splicing	CDH2(NM_001792:exon16:c.2514+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon16:c.2514+1G>T;ENST00000399380:exon15:c.2421+1G>T)	.	.	0.999990361384395	0.938
18	25543320	C	G	18	27963356	y	y	splicing	CDH2(NM_001792:exon16:c.2514+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon16:c.2514+1G>C;ENST00000399380:exon15:c.2421+1G>C)	.	.	0.999990361384395	0.938
18	25543320	C	T	18	27963356	y	y	splicing	CDH2(NM_001792:exon16:c.2514+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon16:c.2514+1G>A;ENST00000399380:exon15:c.2421+1G>A)	.	.	0.999990361384395	0.938
18	25543321	C	A	18	27963357	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.G2514T:p.E838D;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.G2421T:p.E807D;ENSG00000170558:ENST00000269141:exon15:c.G2514T:p.E838D;	0.999994342005323	0.98
18	25543321	C	G	18	27963357	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.G2514C:p.E838D;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.G2421C:p.E807D;ENSG00000170558:ENST00000269141:exon15:c.G2514C:p.E838D;	0.99999623129737	0.992
18	25543321	C	T	18	27963357	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon15:c.G2514A:p.E838E;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.G2421A:p.E807E;ENSG00000170558:ENST00000269141:exon15:c.G2514A:p.E838E;	0.999980879903668	0.994
18	25543322	T	A	18	27963358	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.A2513T:p.E838V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.A2420T:p.E807V;ENSG00000170558:ENST00000269141:exon15:c.A2513T:p.E838V;	0.999977976710391	1.0
18	25543322	T	C	18	27963358	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.A2513G:p.E838G;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.A2420G:p.E807G;ENSG00000170558:ENST00000269141:exon15:c.A2513G:p.E838G;	0.999976470964803	0.998
18	25543322	T	G	18	27963358	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.A2513C:p.E838A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.A2420C:p.E807A;ENSG00000170558:ENST00000269141:exon15:c.A2513C:p.E838A;	0.999950373627874	0.998
18	25543323	C	A	18	27963359	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon15:c.G2512T:p.E838X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon14:c.G2419T:p.E807X;ENSG00000170558:ENST00000269141:exon15:c.G2512T:p.E838X;	0.993309632737313	0.826
18	25543323	C	G	18	27963359	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.G2512C:p.E838Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.G2419C:p.E807Q;ENSG00000170558:ENST00000269141:exon15:c.G2512C:p.E838Q;	0.967292287569085	0.746
18	25543323	C	T	18	27963359	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.G2512A:p.E838K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.G2419A:p.E807K;ENSG00000170558:ENST00000269141:exon15:c.G2512A:p.E838K;	0.971441742560114	0.798
18	25543484	T	A	18	27963520	y	n	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.A2351T:p.D784V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.A2258T:p.D753V;ENSG00000170558:ENST00000269141:exon15:c.A2351T:p.D784V;	0.882399493380899	0.81
18	25543484	T	C	18	27963520	y	n	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.A2351G:p.D784G;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.A2258G:p.D753G;ENSG00000170558:ENST00000269141:exon15:c.A2351G:p.D784G;	0.942713628877353	0.678
18	25543484	T	G	18	27963520	y	n	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.A2351C:p.D784A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.A2258C:p.D753A;ENSG00000170558:ENST00000269141:exon15:c.A2351C:p.D784A;	0.950404804529974	0.83
18	25543485	C	A	18	27963521	y	n	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.G2350T:p.D784Y;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.G2257T:p.D753Y;ENSG00000170558:ENST00000269141:exon15:c.G2350T:p.D784Y;	0.999100888059006	0.828
18	25543485	C	G	18	27963521	y	n	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.G2350C:p.D784H;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.G2257C:p.D753H;ENSG00000170558:ENST00000269141:exon15:c.G2350C:p.D784H;	0.998830640246852	0.87
18	25543485	C	T	18	27963521	y	n	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon15:c.G2350A:p.D784N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon14:c.G2257A:p.D753N;ENSG00000170558:ENST00000269141:exon15:c.G2350A:p.D784N;	0.997560361220556	0.758
18	25543486	C	A	18	27963522	y	n	splicing	CDH2(NM_001792:exon16:c.2350-1G>T)	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.999974416552168	0.938
18	25543486	C	G	18	27963522	y	n	splicing	CDH2(NM_001792:exon16:c.2350-1G>C)	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.999974416552168	0.944
18	25543486	C	T	18	27963522	y	n	splicing	CDH2(NM_001792:exon16:c.2350-1G>A)	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.999974416552168	0.938
18	25543487	T	A	18	27963523	y	n	splicing	CDH2(NM_001792:exon16:c.2350-2A>T)	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.999860244802013	0.898
18	25543487	T	C	18	27963523	y	n	splicing	CDH2(NM_001792:exon16:c.2350-2A>G)	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.999825526487965	0.904
18	25543487	T	G	18	27963523	y	n	splicing	CDH2(NM_001792:exon16:c.2350-2A>C)	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.999825526487965	0.904
18	25543488	G	A	18	27963524	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.00234747379833343	0.174
18	25543488	G	C	18	27963524	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.999676218155745	0.818
18	25543488	G	T	18	27963524	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.174128317544109	0.446
18	25543489	C	A	18	27963525	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	3.88563338073588E-5	0.0
18	25543489	C	G	18	27963525	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	3.30339861308389E-5	0.0
18	25543489	C	T	18	27963525	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	4.97622648326312E-5	0.0
18	25543490	A	C	18	27963526	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	2.42483341043399E-4	0.168
18	25543490	A	G	18	27963526	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	1.28461143388354E-5	0.006
18	25543490	A	T	18	27963526	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	0.982344574323131	0.708
18	25543491	A	C	18	27963527	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	5.59297972428591E-5	0.042
18	25543491	A	G	18	27963527	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	1.32289510092255E-5	0.0
18	25543491	A	T	18	27963527	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	2.35390714043349E-4	0.156
18	25543492	A	C	18	27963528	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	1.92059860247079E-4	0.026
18	25543492	A	G	18	27963528	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	5.2226545557874E-5	0.0
18	25543492	A	T	18	27963528	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	2.03218766964118E-4	0.046
18	25543493	A	C	18	27963529	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	5.8183707406864E-5	0.014
18	25543493	A	G	18	27963529	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	2.98096347958859E-5	0.0
18	25543493	A	T	18	27963529	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	4.13224653050234E-5	0.01
18	25543494	A	C	18	27963530	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	5.4529560387572E-5	0.04
18	25543494	A	G	18	27963530	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	3.08885334475759E-5	0.0
18	25543494	A	T	18	27963530	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	4.15024453532376E-5	0.03
18	25543495	G	A	18	27963531	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	9.67794916772652E-5	0.01
18	25543495	G	C	18	27963531	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	3.18522958913945E-4	0.02
18	25543495	G	T	18	27963531	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	3.80305207391214E-4	0.032
18	25543496	A	C	18	27963532	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	2.47631953773262E-4	0.108
18	25543496	A	G	18	27963532	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	1.12569338172744E-4	0.044
18	25543496	A	T	18	27963532	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	4.78599890698314E-4	0.112
18	25543497	C	A	18	27963533	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	6.94703649573336E-5	0.006
18	25543497	C	G	18	27963533	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	4.83398177527517E-5	0.002
18	25543497	C	T	18	27963533	y	n	intronic	CDH2	.	.	ncRNA_exonic	ENSG00000227279	.	.	5.70296037359112E-5	0.066
18	25562900	C	A	18	27982936	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.85892088628007E-5	0.006
18	25562900	C	G	18	27982936	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.0339478167547E-5	0.01
18	25562900	C	T	18	27982936	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.85892088628007E-5	0.006
18	25562901	T	A	18	27982937	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.03574022652422E-4	0.002
18	25562901	T	C	18	27982937	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.78289619281553E-5	0.002
18	25562901	T	G	18	27982937	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.47622578629061E-5	0.016
18	25562902	G	A	18	27982938	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.0880997486146E-5	0.004
18	25562902	G	C	18	27982938	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.14392530600918E-4	0.044
18	25562902	G	T	18	27982938	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.11404161115187E-4	0.014
18	25562903	C	A	18	27982939	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999463420153232	0.864
18	25562903	C	G	18	27982939	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999122632481992	0.83
18	25562903	C	T	18	27982939	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998799507876794	0.924
18	25562904	T	A	18	27982940	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999354638223562	0.852
18	25562904	T	C	18	27982940	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99007313863505	0.732
18	25562904	T	G	18	27982940	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.92231169307818	0.718
18	25562905	C	A	18	27982941	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.615277108196534	0.568
18	25562905	C	G	18	27982941	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.11905526525639	0.604
18	25562905	C	T	18	27982941	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.07072002697292E-4	0.002
18	25562906	A	C	18	27982942	y	y	splicing	CDH2(NM_001792:exon15:c.2349+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2349+2T>G;ENST00000399380:exon14:c.2256+2T>G)	.	.	0.999988247793601	0.932
18	25562906	A	G	18	27982942	y	y	splicing	CDH2(NM_001792:exon15:c.2349+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2349+2T>C;ENST00000399380:exon14:c.2256+2T>C)	.	.	0.999929727175276	0.868
18	25562906	A	T	18	27982942	y	y	splicing	CDH2(NM_001792:exon15:c.2349+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2349+2T>A;ENST00000399380:exon14:c.2256+2T>A)	.	.	0.999988247793601	0.932
18	25562907	C	A	18	27982943	y	y	splicing	CDH2(NM_001792:exon15:c.2349+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2349+1G>T;ENST00000399380:exon14:c.2256+1G>T)	.	.	0.999990361384395	0.938
18	25562907	C	G	18	27982943	y	y	splicing	CDH2(NM_001792:exon15:c.2349+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2349+1G>C;ENST00000399380:exon14:c.2256+1G>C)	.	.	0.999990361384395	0.938
18	25562907	C	T	18	27982943	y	y	splicing	CDH2(NM_001792:exon15:c.2349+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2349+1G>A;ENST00000399380:exon14:c.2256+1G>A)	.	.	0.999990361384395	0.938
18	25562908	C	A	18	27982944	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.G2349T:p.Q783H;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.G2256T:p.Q752H;ENSG00000170558:ENST00000269141:exon14:c.G2349T:p.Q783H;	0.999933246133944	0.99
18	25562908	C	G	18	27982944	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.G2349C:p.Q783H;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.G2256C:p.Q752H;ENSG00000170558:ENST00000269141:exon14:c.G2349C:p.Q783H;	0.999995982853307	0.99
18	25562908	C	T	18	27982944	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon14:c.G2349A:p.Q783Q;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.G2256A:p.Q752Q;ENSG00000170558:ENST00000269141:exon14:c.G2349A:p.Q783Q;	0.999923164959871	0.976
18	25562909	T	A	18	27982945	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.A2348T:p.Q783L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.A2255T:p.Q752L;ENSG00000170558:ENST00000269141:exon14:c.A2348T:p.Q783L;	0.996361667941723	0.944
18	25562909	T	C	18	27982945	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.A2348G:p.Q783R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.A2255G:p.Q752R;ENSG00000170558:ENST00000269141:exon14:c.A2348G:p.Q783R;	0.996202511322349	0.96
18	25562909	T	G	18	27982945	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.A2348C:p.Q783P;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.A2255C:p.Q752P;ENSG00000170558:ENST00000269141:exon14:c.A2348C:p.Q783P;	0.992467748939949	0.852
18	25562910	G	A	18	27982946	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon14:c.C2347T:p.Q783X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon13:c.C2254T:p.Q752X;ENSG00000170558:ENST00000269141:exon14:c.C2347T:p.Q783X;	0.997863846797543	0.796
18	25562910	G	C	18	27982946	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.C2347G:p.Q783E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.C2254G:p.Q752E;ENSG00000170558:ENST00000269141:exon14:c.C2347G:p.Q783E;	0.92945428139345	0.612
18	25562910	G	T	18	27982946	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.C2347A:p.Q783K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.C2254A:p.Q752K;ENSG00000170558:ENST00000269141:exon14:c.C2347A:p.Q783K;	0.973327418457201	0.83
18	25563046	G	A	18	27983082	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon14:c.C2211T:p.I737I;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.C2118T:p.I706I;ENSG00000170558:ENST00000269141:exon14:c.C2211T:p.I737I;	6.2391753822352E-4	0.004
18	25563046	G	C	18	27983082	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.C2211G:p.I737M;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.C2118G:p.I706M;ENSG00000170558:ENST00000269141:exon14:c.C2211G:p.I737M;	1.04286759110497E-5	0.028
18	25563046	G	T	18	27983082	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon14:c.C2211A:p.I737I;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.C2118A:p.I706I;ENSG00000170558:ENST00000269141:exon14:c.C2211A:p.I737I;	5.01112030703326E-4	0.04
18	25563047	A	C	18	27983083	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.T2210G:p.I737S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.T2117G:p.I706S;ENSG00000170558:ENST00000269141:exon14:c.T2210G:p.I737S;	0.0384046191092387	0.23
18	25563047	A	G	18	27983083	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.T2210C:p.I737T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.T2117C:p.I706T;ENSG00000170558:ENST00000269141:exon14:c.T2210C:p.I737T;	0.00516217403575105	0.054
18	25563047	A	T	18	27983083	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon14:c.T2210A:p.I737N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon13:c.T2117A:p.I706N;ENSG00000170558:ENST00000269141:exon14:c.T2210A:p.I737N;	0.713248387380696	0.638
18	25563048	C	A	18	27983084	y	y	splicing	CDH2(NM_001792:exon15:c.2210-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2210-1G>T;ENST00000399380:exon14:c.2117-1G>T)	.	.	0.999989263107695	0.938
18	25563048	C	G	18	27983084	y	y	splicing	CDH2(NM_001792:exon15:c.2210-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2210-1G>C;ENST00000399380:exon14:c.2117-1G>C)	.	.	0.999989263107695	0.938
18	25563048	C	T	18	27983084	y	y	splicing	CDH2(NM_001792:exon15:c.2210-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2210-1G>A;ENST00000399380:exon14:c.2117-1G>A)	.	.	0.999989263107695	0.938
18	25563049	T	A	18	27983085	y	y	splicing	CDH2(NM_001792:exon15:c.2210-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2210-2A>T;ENST00000399380:exon14:c.2117-2A>T)	.	.	0.999988247793601	0.932
18	25563049	T	C	18	27983085	y	y	splicing	CDH2(NM_001792:exon15:c.2210-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2210-2A>G;ENST00000399380:exon14:c.2117-2A>G)	.	.	0.999988247793601	0.932
18	25563049	T	G	18	27983085	y	y	splicing	CDH2(NM_001792:exon15:c.2210-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon15:c.2210-2A>C;ENST00000399380:exon14:c.2117-2A>C)	.	.	0.999988247793601	0.932
18	25563050	A	C	18	27983086	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.977703505587319	0.692
18	25563050	A	G	18	27983086	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.47241441601968E-4	0.012
18	25563050	A	T	18	27983086	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0494998033936395	0.382
18	25563051	G	A	18	27983087	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.10077636223138E-4	0.018
18	25563051	G	C	18	27983087	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.81179769066065E-4	0.018
18	25563051	G	T	18	27983087	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.88632530825918E-4	0.016
18	25563052	G	A	18	27983088	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.42969347846428E-5	0.01
18	25563052	G	C	18	27983088	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999965362304689	0.986
18	25563052	G	T	18	27983088	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00365950971805196	0.102
18	25563053	T	A	18	27983089	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.56410944320175E-5	0.0
18	25563053	T	C	18	27983089	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.67324488736627E-5	0.0
18	25563053	T	G	18	27983089	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.3988099089071E-5	0.004
18	25563054	A	C	18	27983090	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0276702561052942	0.188
18	25563054	A	G	18	27983090	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.67469104304176E-5	0.04
18	25563054	A	T	18	27983090	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0333478019834478	0.218
18	25563055	G	A	18	27983091	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.3982399463412E-4	0.01
18	25563055	G	C	18	27983091	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00853052837733244	0.13
18	25563055	G	T	18	27983091	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00579270296317768	0.112
18	25563056	A	C	18	27983092	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.84634023833319E-4	0.06
18	25563056	A	G	18	27983092	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.96286781309918E-4	0.026
18	25563056	A	T	18	27983092	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.72163995730869E-4	0.062
18	25563057	A	C	18	27983093	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0553105603311546	0.382
18	25563057	A	G	18	27983093	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00104394049452519	0.094
18	25563057	A	T	18	27983093	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00894326066637891	0.37
18	25563058	A	C	18	27983094	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0811633730861117	0.388
18	25563058	A	G	18	27983094	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.53898816966546E-4	0.026
18	25563058	A	T	18	27983094	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.515568272751258	0.29
18	25563059	A	C	18	27983095	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0157251107135078	0.296
18	25563059	A	G	18	27983095	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.48078961405334E-4	0.034
18	25563059	A	T	18	27983095	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0174038825481598	0.28
18	25564956	G	A	18	27984992	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.02411903686314E-4	0.002
18	25564956	G	C	18	27984992	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.35520562038957E-5	0.006
18	25564956	G	T	18	27984992	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.27106523874482E-4	0.028
18	25564957	T	A	18	27984993	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.34873806882217E-4	0.024
18	25564957	T	C	18	27984993	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.13236253335679E-5	0.0
18	25564957	T	G	18	27984993	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.13236253335679E-5	0.002
18	25564958	A	C	18	27984994	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999400037651119	0.818
18	25564958	A	G	18	27984994	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996517103370853	0.86
18	25564958	A	T	18	27984994	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999743889053309	0.796
18	25564959	C	A	18	27984995	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999957411809093	0.99
18	25564959	C	G	18	27984995	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999968989307807	0.996
18	25564959	C	T	18	27984995	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999957411809093	0.988
18	25564960	T	A	18	27984996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999908720073776	0.936
18	25564960	T	C	18	27984996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999892407735557	0.964
18	25564960	T	G	18	27984996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999942001690309	0.958
18	25564961	C	A	18	27984997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.993879793674624	0.61
18	25564961	C	G	18	27984997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.995734386256445	0.684
18	25564961	C	T	18	27984997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.75795086206998E-5	0.008
18	25564962	A	C	18	27984998	y	y	splicing	CDH2(NM_001792:exon14:c.2209+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.2209+2T>G;ENST00000399380:exon13:c.2116+2T>G)	.	.	0.999988247793601	0.948
18	25564962	A	G	18	27984998	y	y	splicing	CDH2(NM_001792:exon14:c.2209+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.2209+2T>C;ENST00000399380:exon13:c.2116+2T>C)	.	.	0.999983530538551	0.958
18	25564962	A	T	18	27984998	y	y	splicing	CDH2(NM_001792:exon14:c.2209+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.2209+2T>A;ENST00000399380:exon13:c.2116+2T>A)	.	.	0.999988247793601	0.948
18	25564963	C	A	18	27984999	y	y	splicing	CDH2(NM_001792:exon14:c.2209+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.2209+1G>T;ENST00000399380:exon13:c.2116+1G>T)	.	.	0.999989072007339	0.946
18	25564963	C	G	18	27984999	y	y	splicing	CDH2(NM_001792:exon14:c.2209+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.2209+1G>C;ENST00000399380:exon13:c.2116+1G>C)	.	.	0.999989072007339	0.946
18	25564963	C	T	18	27984999	y	y	splicing	CDH2(NM_001792:exon14:c.2209+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.2209+1G>A;ENST00000399380:exon13:c.2116+1G>A)	.	.	0.999989072007339	0.946
18	25564964	T	A	18	27985000	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.A2209T:p.I737F;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.A2116T:p.I706F;ENSG00000170558:ENST00000269141:exon13:c.A2209T:p.I737F;	0.77920138330824	0.46
18	25564964	T	C	18	27985000	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.A2209G:p.I737V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.A2116G:p.I706V;ENSG00000170558:ENST00000269141:exon13:c.A2209G:p.I737V;	8.38947194205891E-4	0.072
18	25564964	T	G	18	27985000	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.A2209C:p.I737L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.A2116C:p.I706L;ENSG00000170558:ENST00000269141:exon13:c.A2209C:p.I737L;	0.0106087302994171	0.252
18	25564965	A	C	18	27985001	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon13:c.T2208G:p.L736L;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T2115G:p.L705L;ENSG00000170558:ENST00000269141:exon13:c.T2208G:p.L736L;	8.88191895511E-5	0.102
18	25564965	A	G	18	27985001	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon13:c.T2208C:p.L736L;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T2115C:p.L705L;ENSG00000170558:ENST00000269141:exon13:c.T2208C:p.L736L;	1.245531806904E-4	0.022
18	25564965	A	T	18	27985001	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon13:c.T2208A:p.L736L;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T2115A:p.L705L;ENSG00000170558:ENST00000269141:exon13:c.T2208A:p.L736L;	1.01279469796734E-4	0.11
18	25564966	A	C	18	27985002	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.T2207G:p.L736R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T2114G:p.L705R;ENSG00000170558:ENST00000269141:exon13:c.T2207G:p.L736R;	0.841015705850705	0.684
18	25564966	A	G	18	27985002	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.T2207C:p.L736P;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T2114C:p.L705P;ENSG00000170558:ENST00000269141:exon13:c.T2207C:p.L736P;	0.766413529089363	0.526
18	25564966	A	T	18	27985002	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.T2207A:p.L736H;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T2114A:p.L705H;ENSG00000170558:ENST00000269141:exon13:c.T2207A:p.L736H;	0.745208885623731	0.598
18	25565196	A	C	18	27985232	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon13:c.T1977G:p.G659G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T1884G:p.G628G;ENSG00000170558:ENST00000269141:exon13:c.T1977G:p.G659G;	3.53206906695269E-4	0.018
18	25565196	A	G	18	27985232	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon13:c.T1977C:p.G659G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T1884C:p.G628G;ENSG00000170558:ENST00000269141:exon13:c.T1977C:p.G659G;	3.53206906695269E-4	0.01
18	25565196	A	T	18	27985232	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon13:c.T1977A:p.G659G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.T1884A:p.G628G;ENSG00000170558:ENST00000269141:exon13:c.T1977A:p.G659G;	3.64893437270718E-4	0.03
18	25565197	C	A	18	27985233	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.G1976T:p.G659V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.G1883T:p.G628V;ENSG00000170558:ENST00000269141:exon13:c.G1976T:p.G659V;	0.999918164298923	1.0
18	25565197	C	G	18	27985233	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.G1976C:p.G659A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.G1883C:p.G628A;ENSG00000170558:ENST00000269141:exon13:c.G1976C:p.G659A;	0.999584797581348	0.966
18	25565197	C	T	18	27985233	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon13:c.G1976A:p.G659D;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon12:c.G1883A:p.G628D;ENSG00000170558:ENST00000269141:exon13:c.G1976A:p.G659D;	0.999519201671987	0.928
18	25565198	C	A	18	27985234	y	y	splicing	CDH2(NM_001792:exon14:c.1976-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.1976-1G>T;ENST00000399380:exon13:c.1883-1G>T)	.	.	0.999989072007339	0.932
18	25565198	C	G	18	27985234	y	y	splicing	CDH2(NM_001792:exon14:c.1976-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.1976-1G>C;ENST00000399380:exon13:c.1883-1G>C)	.	.	0.999989072007339	0.932
18	25565198	C	T	18	27985234	y	y	splicing	CDH2(NM_001792:exon14:c.1976-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.1976-1G>A;ENST00000399380:exon13:c.1883-1G>A)	.	.	0.999989072007339	0.932
18	25565199	T	A	18	27985235	y	y	splicing	CDH2(NM_001792:exon14:c.1976-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.1976-2A>T;ENST00000399380:exon13:c.1883-2A>T)	.	.	0.999988247793601	0.928
18	25565199	T	C	18	27985235	y	y	splicing	CDH2(NM_001792:exon14:c.1976-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.1976-2A>G;ENST00000399380:exon13:c.1883-2A>G)	.	.	0.999988247793601	0.928
18	25565199	T	G	18	27985235	y	y	splicing	CDH2(NM_001792:exon14:c.1976-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon14:c.1976-2A>C;ENST00000399380:exon13:c.1883-2A>C)	.	.	0.999988247793601	0.928
18	25565200	A	C	18	27985236	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.9971587697612	0.702
18	25565200	A	G	18	27985236	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.31404504443543E-4	0.024
18	25565200	A	T	18	27985236	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0222520833266823	0.268
18	25565201	T	A	18	27985237	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.72148540040705E-5	0.0
18	25565201	T	C	18	27985237	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.51607491078847E-5	0.0
18	25565201	T	G	18	27985237	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.20797054945653E-5	0.0
18	25565202	A	C	18	27985238	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998972361584338	0.888
18	25565202	A	G	18	27985238	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.08076000606541E-5	0.02
18	25565202	A	T	18	27985238	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0017375670629883	0.194
18	25565203	T	A	18	27985239	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.03405291699959E-5	0.004
18	25565203	T	C	18	27985239	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.01522981000874E-5	0.02
18	25565203	T	G	18	27985239	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.02940534787266E-5	0.022
18	25565204	G	A	18	27985240	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.75887670202821E-5	0.12
18	25565204	G	C	18	27985240	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.70648820082767E-4	0.136
18	25565204	G	T	18	27985240	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.35010218672632E-4	0.118
18	25565205	A	C	18	27985241	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00183243532121964	0.136
18	25565205	A	G	18	27985241	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.37983347528813E-5	0.014
18	25565205	A	T	18	27985241	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00765965614776949	0.118
18	25565206	A	C	18	27985242	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0343492976414802	0.304
18	25565206	A	G	18	27985242	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00259148585125002	0.034
18	25565206	A	T	18	27985242	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0486776439971114	0.25
18	25565207	A	C	18	27985243	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00596207694060664	0.156
18	25565207	A	G	18	27985243	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.95965116976701E-4	0.004
18	25565207	A	T	18	27985243	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.02003415929532	0.156
18	25565208	A	C	18	27985244	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00811232845836012	0.18
18	25565208	A	G	18	27985244	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.51767256549071E-4	0.208
18	25565208	A	T	18	27985244	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0034765409997013	0.184
18	25565209	A	C	18	27985245	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00138947333230563	0.1
18	25565209	A	G	18	27985245	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.44224470986837E-5	0.008
18	25565209	A	T	18	27985245	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00214500220301534	0.086
18	25565484	G	A	18	27985520	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.5908222467397E-5	0.0
18	25565484	G	C	18	27985520	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.48460048036813E-5	0.0
18	25565484	G	T	18	27985520	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.44555026039113E-5	0.0
18	25565485	T	A	18	27985521	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.06578374543387E-4	0.008
18	25565485	T	C	18	27985521	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.64928256872287E-4	0.024
18	25565485	T	G	18	27985521	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.12261273777789E-4	0.008
18	25565486	T	A	18	27985522	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.09260902477792E-5	0.006
18	25565486	T	C	18	27985522	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.16223864883344E-5	0.0
18	25565486	T	G	18	27985522	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.92271603086329E-4	0.006
18	25565487	C	A	18	27985523	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999884958282337	0.89
18	25565487	C	G	18	27985523	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999937283665567	0.922
18	25565487	C	T	18	27985523	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99992482698766	0.912
18	25565488	T	A	18	27985524	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.887180346801731	0.686
18	25565488	T	C	18	27985524	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.971464790023305	0.646
18	25565488	T	G	18	27985524	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.8343645485206	0.554
18	25565489	T	A	18	27985525	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.899512026314785	0.616
18	25565489	T	C	18	27985525	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00861508654750989	0.138
18	25565489	T	G	18	27985525	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.972742688143902	0.738
18	25565490	A	C	18	27985526	y	y	splicing	CDH2(NM_001792:exon13:c.1975+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1975+2T>G;ENST00000399380:exon12:c.1882+2T>G)	.	.	0.999988247793601	0.928
18	25565490	A	G	18	27985526	y	y	splicing	CDH2(NM_001792:exon13:c.1975+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1975+2T>C;ENST00000399380:exon12:c.1882+2T>C)	.	.	0.999931547473318	0.888
18	25565490	A	T	18	27985526	y	y	splicing	CDH2(NM_001792:exon13:c.1975+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1975+2T>A;ENST00000399380:exon12:c.1882+2T>A)	.	.	0.999988247793601	0.93
18	25565491	C	A	18	27985527	y	y	splicing	CDH2(NM_001792:exon13:c.1975+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1975+1G>T;ENST00000399380:exon12:c.1882+1G>T)	.	.	0.999989072007339	0.934
18	25565491	C	G	18	27985527	y	y	splicing	CDH2(NM_001792:exon13:c.1975+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1975+1G>C;ENST00000399380:exon12:c.1882+1G>C)	.	.	0.999989072007339	0.934
18	25565491	C	T	18	27985527	y	y	splicing	CDH2(NM_001792:exon13:c.1975+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1975+1G>A;ENST00000399380:exon12:c.1882+1G>A)	.	.	0.999989072007339	0.934
18	25565492	C	A	18	27985528	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.G1975T:p.G659C;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.G1882T:p.G628C;ENSG00000170558:ENST00000269141:exon12:c.G1975T:p.G659C;	0.999993126280738	1.0
18	25565492	C	G	18	27985528	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.G1975C:p.G659R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.G1882C:p.G628R;ENSG00000170558:ENST00000269141:exon12:c.G1975C:p.G659R;	0.999990166151846	0.962
18	25565492	C	T	18	27985528	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.G1975A:p.G659S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.G1882A:p.G628S;ENSG00000170558:ENST00000269141:exon12:c.G1975A:p.G659S;	0.999973710771273	0.974
18	25565493	A	C	18	27985529	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.T1974G:p.N658K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.T1881G:p.N627K;ENSG00000170558:ENST00000269141:exon12:c.T1974G:p.N658K;	0.00423670909563823	0.114
18	25565493	A	G	18	27985529	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon12:c.T1974C:p.N658N;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.T1881C:p.N627N;ENSG00000170558:ENST00000269141:exon12:c.T1974C:p.N658N;	6.0153401199336E-4	0.058
18	25565493	A	T	18	27985529	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.T1974A:p.N658K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.T1881A:p.N627K;ENSG00000170558:ENST00000269141:exon12:c.T1974A:p.N658K;	5.61058626126963E-4	0.116
18	25565494	T	A	18	27985530	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.A1973T:p.N658I;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.A1880T:p.N627I;ENSG00000170558:ENST00000269141:exon12:c.A1973T:p.N658I;	0.976251659011273	0.55
18	25565494	T	C	18	27985530	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.A1973G:p.N658S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.A1880G:p.N627S;ENSG00000170558:ENST00000269141:exon12:c.A1973G:p.N658S;	0.01937290129136	0.18
18	25565494	T	G	18	27985530	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.A1973C:p.N658T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.A1880C:p.N627T;ENSG00000170558:ENST00000269141:exon12:c.A1973C:p.N658T;	0.0144409251983102	0.086
18	25565724	T	A	18	27985760	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon12:c.A1743T:p.G581G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.A1650T:p.G550G;ENSG00000170558:ENST00000269141:exon12:c.A1743T:p.G581G;	0.00605257972842857	0.024
18	25565724	T	C	18	27985760	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon12:c.A1743G:p.G581G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.A1650G:p.G550G;ENSG00000170558:ENST00000269141:exon12:c.A1743G:p.G581G;	0.0094030255066448	0.028
18	25565724	T	G	18	27985760	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon12:c.A1743C:p.G581G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.A1650C:p.G550G;ENSG00000170558:ENST00000269141:exon12:c.A1743C:p.G581G;	0.019651981423114	0.082
18	25565725	C	A	18	27985761	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.G1742T:p.G581V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.G1649T:p.G550V;ENSG00000170558:ENST00000269141:exon12:c.G1742T:p.G581V;	0.999809167553106	0.966
18	25565725	C	G	18	27985761	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.G1742C:p.G581A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.G1649C:p.G550A;ENSG00000170558:ENST00000269141:exon12:c.G1742C:p.G581A;	0.999750291486125	0.932
18	25565725	C	T	18	27985761	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon12:c.G1742A:p.G581E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon11:c.G1649A:p.G550E;ENSG00000170558:ENST00000269141:exon12:c.G1742A:p.G581E;	0.998605870560274	0.894
18	25565726	C	A	18	27985762	y	y	splicing	CDH2(NM_001792:exon13:c.1742-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1742-1G>T;ENST00000399380:exon12:c.1649-1G>T)	.	.	0.999989072007339	0.934
18	25565726	C	G	18	27985762	y	y	splicing	CDH2(NM_001792:exon13:c.1742-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1742-1G>C;ENST00000399380:exon12:c.1649-1G>C)	.	.	0.999989072007339	0.932
18	25565726	C	T	18	27985762	y	y	splicing	CDH2(NM_001792:exon13:c.1742-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1742-1G>A;ENST00000399380:exon12:c.1649-1G>A)	.	.	0.999989072007339	0.934
18	25565727	T	A	18	27985763	y	y	splicing	CDH2(NM_001792:exon13:c.1742-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1742-2A>T;ENST00000399380:exon12:c.1649-2A>T)	.	.	0.999988247793601	0.928
18	25565727	T	C	18	27985763	y	y	splicing	CDH2(NM_001792:exon13:c.1742-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1742-2A>G;ENST00000399380:exon12:c.1649-2A>G)	.	.	0.999988247793601	0.928
18	25565727	T	G	18	27985763	y	y	splicing	CDH2(NM_001792:exon13:c.1742-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon13:c.1742-2A>C;ENST00000399380:exon12:c.1649-2A>C)	.	.	0.999988247793601	0.928
18	25565728	G	A	18	27985764	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.13196775409454E-4	0.04
18	25565728	G	C	18	27985764	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.954189477885388	0.676
18	25565728	G	T	18	27985764	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0835519586305224	0.306
18	25565729	A	C	18	27985765	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.58183282480374E-4	0.0
18	25565729	A	G	18	27985765	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.66964684252555E-5	0.002
18	25565729	A	T	18	27985765	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.10493007208283E-5	0.0
18	25565730	A	C	18	27985766	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0649498235306479	0.472
18	25565730	A	G	18	27985766	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0163092025628854	0.196
18	25565730	A	T	18	27985766	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.102964845286324	0.454
18	25565731	A	C	18	27985767	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.05091122068063E-4	0.048
18	25565731	A	G	18	27985767	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.23587483247951E-5	0.0
18	25565731	A	T	18	27985767	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.68767044898847E-4	0.046
18	25565732	A	C	18	27985768	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.94529296240045E-4	0.09
18	25565732	A	G	18	27985768	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.98199378635026E-4	0.018
18	25565732	A	T	18	27985768	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.62017474485354E-4	0.094
18	25565733	G	A	18	27985769	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.57608295069212E-5	0.004
18	25565733	G	C	18	27985769	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.07289959355699E-4	0.024
18	25565733	G	T	18	27985769	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00128726299123081	0.056
18	25565734	A	C	18	27985770	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00309156530138381	0.062
18	25565734	A	G	18	27985770	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.34187898040424E-4	0.014
18	25565734	A	T	18	27985770	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00237380201037356	0.056
18	25565735	G	A	18	27985771	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00118073107166782	0.024
18	25565735	G	C	18	27985771	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00878460390779408	0.13
18	25565735	G	T	18	27985771	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0154266693064445	0.134
18	25565736	A	C	18	27985772	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0254269995385771	0.296
18	25565736	A	G	18	27985772	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00343830175346256	0.114
18	25565736	A	T	18	27985772	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.02376876357901	0.338
18	25565737	G	A	18	27985773	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.60264344173172E-4	0.176
18	25565737	G	C	18	27985773	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.07861093172362E-5	0.062
18	25565737	G	T	18	27985773	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.44376522296646E-5	0.076
18	25568480	G	A	18	27988516	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.81020806617543E-5	0.0
18	25568480	G	C	18	27988516	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.58701581839512E-4	0.018
18	25568480	G	T	18	27988516	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.62380125014688E-4	0.0
18	25568481	A	C	18	27988517	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.01174165683835E-5	0.0
18	25568481	A	G	18	27988517	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.01174165683835E-5	0.0
18	25568481	A	T	18	27988517	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.01174165683835E-5	0.0
18	25568482	A	C	18	27988518	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998396031498827	0.816
18	25568482	A	G	18	27988518	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996883389866114	0.74
18	25568482	A	T	18	27988518	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999082912218514	0.792
18	25568483	C	A	18	27988519	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999986450600679	0.96
18	25568483	C	G	18	27988519	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999984501426429	0.974
18	25568483	C	T	18	27988519	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999956274330732	0.992
18	25568484	A	C	18	27988520	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.31408063550941E-5	0.014
18	25568484	A	G	18	27988520	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.76465136170122E-5	0.032
18	25568484	A	T	18	27988520	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.45792968902946E-5	0.024
18	25568485	T	A	18	27988521	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99899190163081	0.93
18	25568485	T	C	18	27988521	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996120048544762	0.914
18	25568485	T	G	18	27988521	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999958485722463	0.942
18	25568486	A	C	18	27988522	y	y	splicing	CDH2(NM_001792:exon12:c.1741+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1741+2T>G;ENST00000399380:exon11:c.1648+2T>G)	.	.	0.999988247793601	0.932
18	25568486	A	G	18	27988522	y	y	splicing	CDH2(NM_001792:exon12:c.1741+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1741+2T>C;ENST00000399380:exon11:c.1648+2T>C)	.	.	0.994669226766359	0.694
18	25568486	A	T	18	27988522	y	y	splicing	CDH2(NM_001792:exon12:c.1741+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1741+2T>A;ENST00000399380:exon11:c.1648+2T>A)	.	.	0.999988247793601	0.932
18	25568487	C	A	18	27988523	y	y	splicing	CDH2(NM_001792:exon12:c.1741+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1741+1G>T;ENST00000399380:exon11:c.1648+1G>T)	.	.	0.999989072007339	0.934
18	25568487	C	G	18	27988523	y	y	splicing	CDH2(NM_001792:exon12:c.1741+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1741+1G>C;ENST00000399380:exon11:c.1648+1G>C)	.	.	0.999989072007339	0.934
18	25568487	C	T	18	27988523	y	y	splicing	CDH2(NM_001792:exon12:c.1741+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1741+1G>A;ENST00000399380:exon11:c.1648+1G>A)	.	.	0.999989072007339	0.934
18	25568488	C	A	18	27988524	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon11:c.G1741T:p.G581X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon10:c.G1648T:p.G550X;ENSG00000170558:ENST00000269141:exon11:c.G1741T:p.G581X;	0.999966939846511	0.982
18	25568488	C	G	18	27988524	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.G1741C:p.G581R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.G1648C:p.G550R;ENSG00000170558:ENST00000269141:exon11:c.G1741C:p.G581R;	0.999992156340066	0.972
18	25568488	C	T	18	27988524	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.G1741A:p.G581R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.G1648A:p.G550R;ENSG00000170558:ENST00000269141:exon11:c.G1741A:p.G581R;	0.999988062088775	1.0
18	25568489	A	C	18	27988525	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.T1740G:p.N580K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.T1647G:p.N549K;ENSG00000170558:ENST00000269141:exon11:c.T1740G:p.N580K;	0.811721562619268	0.746
18	25568489	A	G	18	27988525	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon11:c.T1740C:p.N580N;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.T1647C:p.N549N;ENSG00000170558:ENST00000269141:exon11:c.T1740C:p.N580N;	0.0416111452684304	0.182
18	25568489	A	T	18	27988525	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.T1740A:p.N580K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.T1647A:p.N549K;ENSG00000170558:ENST00000269141:exon11:c.T1740A:p.N580K;	0.608283915523628	0.41
18	25568490	T	A	18	27988526	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.A1739T:p.N580I;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.A1646T:p.N549I;ENSG00000170558:ENST00000269141:exon11:c.A1739T:p.N580I;	0.283419961289977	0.418
18	25568490	T	C	18	27988526	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.A1739G:p.N580S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.A1646G:p.N549S;ENSG00000170558:ENST00000269141:exon11:c.A1739G:p.N580S;	8.14309329947307E-4	0.016
18	25568490	T	G	18	27988526	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.A1739C:p.N580T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.A1646C:p.N549T;ENSG00000170558:ENST00000269141:exon11:c.A1739C:p.N580T;	7.57535495851616E-4	0.056
18	25568629	A	C	18	27988665	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.T1600G:p.Y534D;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.T1507G:p.Y503D;ENSG00000170558:ENST00000269141:exon11:c.T1600G:p.Y534D;	0.797525045873085	0.546
18	25568629	A	G	18	27988665	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.T1600C:p.Y534H;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.T1507C:p.Y503H;ENSG00000170558:ENST00000269141:exon11:c.T1600C:p.Y534H;	0.417605067782451	0.602
18	25568629	A	T	18	27988665	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.T1600A:p.Y534N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.T1507A:p.Y503N;ENSG00000170558:ENST00000269141:exon11:c.T1600A:p.Y534N;	0.669083231852466	0.576
18	25568630	T	A	18	27988666	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.A1599T:p.R533S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.A1506T:p.R502S;ENSG00000170558:ENST00000269141:exon11:c.A1599T:p.R533S;	0.00245347732502197	0.062
18	25568630	T	C	18	27988666	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon11:c.A1599G:p.R533R;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.A1506G:p.R502R;ENSG00000170558:ENST00000269141:exon11:c.A1599G:p.R533R;	2.11923490442091E-4	0.0
18	25568630	T	G	18	27988666	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon11:c.A1599C:p.R533S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon10:c.A1506C:p.R502S;ENSG00000170558:ENST00000269141:exon11:c.A1599C:p.R533S;	0.00213399049436717	0.068
18	25568631	C	A	18	27988667	y	y	splicing	CDH2(NM_001792:exon12:c.1599-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1599-1G>T;ENST00000399380:exon11:c.1506-1G>T)	.	.	0.999990361384395	0.938
18	25568631	C	G	18	27988667	y	y	splicing	CDH2(NM_001792:exon12:c.1599-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1599-1G>C;ENST00000399380:exon11:c.1506-1G>C)	.	.	0.999990361384395	0.938
18	25568631	C	T	18	27988667	y	y	splicing	CDH2(NM_001792:exon12:c.1599-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1599-1G>A;ENST00000399380:exon11:c.1506-1G>A)	.	.	0.999990361384395	0.938
18	25568632	T	A	18	27988668	y	y	splicing	CDH2(NM_001792:exon12:c.1599-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1599-2A>T;ENST00000399380:exon11:c.1506-2A>T)	.	.	0.999988247793601	0.932
18	25568632	T	C	18	27988668	y	y	splicing	CDH2(NM_001792:exon12:c.1599-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1599-2A>G;ENST00000399380:exon11:c.1506-2A>G)	.	.	0.999988247793601	0.932
18	25568632	T	G	18	27988668	y	y	splicing	CDH2(NM_001792:exon12:c.1599-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon12:c.1599-2A>C;ENST00000399380:exon11:c.1506-2A>C)	.	.	0.999988247793601	0.932
18	25568633	A	C	18	27988669	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.98836342322805	0.694
18	25568633	A	G	18	27988669	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.485197495085E-5	0.0
18	25568633	A	T	18	27988669	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00104601291661952	0.172
18	25568634	C	A	18	27988670	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.55985657147556E-5	0.0
18	25568634	C	G	18	27988670	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.40173270250616E-6	0.002
18	25568634	C	T	18	27988670	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.78930750343131E-5	0.002
18	25568635	A	C	18	27988671	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0915110116466395	0.37
18	25568635	A	G	18	27988671	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00170179433336842	0.03
18	25568635	A	T	18	27988671	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999630289850799	0.94
18	25568636	A	C	18	27988672	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0448028911013778	0.28
18	25568636	A	G	18	27988672	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.02199396064412E-4	0.034
18	25568636	A	T	18	27988672	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0301797615709023	0.238
18	25568637	A	C	18	27988673	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0417543908876141	0.176
18	25568637	A	G	18	27988673	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.47914151436462E-4	0.028
18	25568637	A	T	18	27988673	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0417543908876141	0.17
18	25568638	A	C	18	27988674	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999663235768018	0.94
18	25568638	A	G	18	27988674	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.33122372040954E-4	0.022
18	25568638	A	T	18	27988674	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0019194000904756	0.176
18	25568639	T	A	18	27988675	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.92017314592258E-5	0.002
18	25568639	T	C	18	27988675	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.20371154089634E-5	0.002
18	25568639	T	G	18	27988675	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.65033855432448E-6	0.002
18	25568640	G	A	18	27988676	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.91266145916482E-5	0.002
18	25568640	G	C	18	27988676	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.18845992458962E-4	0.008
18	25568640	G	T	18	27988676	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.2459273667362E-4	0.046
18	25568641	A	C	18	27988677	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.18330260495783E-4	0.108
18	25568641	A	G	18	27988677	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.91480004758842E-4	0.016
18	25568641	A	T	18	27988677	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.11274494205056E-4	0.16
18	25568642	A	C	18	27988678	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.66079193944793E-4	0.184
18	25568642	A	G	18	27988678	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.29039417041362E-5	0.014
18	25568642	A	T	18	27988678	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.41392571008768E-4	0.164
18	25570053	T	A	18	27990089	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.15218178024102E-5	0.0
18	25570053	T	C	18	27990089	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.73443056255124E-5	0.0
18	25570053	T	G	18	27990089	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.82275659187098E-5	0.0
18	25570054	T	A	18	27990090	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.05968861064644E-4	0.0
18	25570054	T	C	18	27990090	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.13074655247535E-5	0.0
18	25570054	T	G	18	27990090	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.67917495862859E-5	0.0
18	25570055	T	A	18	27990091	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.58544167988451E-5	0.0
18	25570055	T	C	18	27990091	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.37079346776222E-5	0.0
18	25570055	T	G	18	27990091	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.77557513633878E-5	0.014
18	25570056	C	A	18	27990092	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996101897450319	0.588
18	25570056	C	G	18	27990092	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996916506619925	0.712
18	25570056	C	T	18	27990092	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998488368185444	0.68
18	25570057	A	C	18	27990093	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.4198354092461E-5	0.1
18	25570057	A	G	18	27990093	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.74647212390459E-5	0.002
18	25570057	A	T	18	27990093	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.39027500352423E-5	0.11
18	25570058	T	A	18	27990094	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999933712386654	0.932
18	25570058	T	C	18	27990094	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.997389839821833	0.764
18	25570058	T	G	18	27990094	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999882404793334	0.906
18	25570059	A	C	18	27990095	y	y	splicing	CDH2(NM_001792:exon11:c.1598+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1598+2T>G;ENST00000399380:exon10:c.1505+2T>G)	.	.	0.999988247793601	0.932
18	25570059	A	G	18	27990095	y	y	splicing	CDH2(NM_001792:exon11:c.1598+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1598+2T>C;ENST00000399380:exon10:c.1505+2T>C)	.	.	0.997781565257106	0.726
18	25570059	A	T	18	27990095	y	y	splicing	CDH2(NM_001792:exon11:c.1598+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1598+2T>A;ENST00000399380:exon10:c.1505+2T>A)	.	.	0.999988247793601	0.932
18	25570060	C	A	18	27990096	y	y	splicing	CDH2(NM_001792:exon11:c.1598+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1598+1G>T;ENST00000399380:exon10:c.1505+1G>T)	.	.	0.999990361384395	0.938
18	25570060	C	G	18	27990096	y	y	splicing	CDH2(NM_001792:exon11:c.1598+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1598+1G>C;ENST00000399380:exon10:c.1505+1G>C)	.	.	0.999990361384395	0.938
18	25570060	C	T	18	27990096	y	y	splicing	CDH2(NM_001792:exon11:c.1598+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1598+1G>A;ENST00000399380:exon10:c.1505+1G>A)	.	.	0.999990361384395	0.938
18	25570061	C	A	18	27990097	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.G1598T:p.R533I;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.G1505T:p.R502I;ENSG00000170558:ENST00000269141:exon10:c.G1598T:p.R533I;	0.999992085169995	0.994
18	25570061	C	G	18	27990097	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.G1598C:p.R533T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.G1505C:p.R502T;ENSG00000170558:ENST00000269141:exon10:c.G1598C:p.R533T;	0.999996101923377	0.946
18	25570061	C	T	18	27990097	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.G1598A:p.R533K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.G1505A:p.R502K;ENSG00000170558:ENST00000269141:exon10:c.G1598A:p.R533K;	0.999990666270694	1.0
18	25570062	T	A	18	27990098	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon10:c.A1597T:p.R533X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon9:c.A1504T:p.R502X;ENSG00000170558:ENST00000269141:exon10:c.A1597T:p.R533X;	0.99994467795987	0.988
18	25570062	T	C	18	27990098	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.A1597G:p.R533G;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.A1504G:p.R502G;ENSG00000170558:ENST00000269141:exon10:c.A1597G:p.R533G;	0.999860960067192	0.98
18	25570062	T	G	18	27990098	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon10:c.A1597C:p.R533R;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.A1504C:p.R502R;ENSG00000170558:ENST00000269141:exon10:c.A1597C:p.R533R;	0.999138413940131	0.954
18	25570063	A	C	18	27990099	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.T1596G:p.I532M;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.T1503G:p.I501M;ENSG00000170558:ENST00000269141:exon10:c.T1596G:p.I532M;	6.68091366438617E-4	0.12
18	25570063	A	G	18	27990099	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon10:c.T1596C:p.I532I;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.T1503C:p.I501I;ENSG00000170558:ENST00000269141:exon10:c.T1596C:p.I532I;	1.31497776161603E-4	0.004
18	25570063	A	T	18	27990099	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon10:c.T1596A:p.I532I;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.T1503A:p.I501I;ENSG00000170558:ENST00000269141:exon10:c.T1596A:p.I532I;	1.17589223200199E-4	0.006
18	25570313	G	A	18	27990349	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.C1346T:p.P449L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.C1253T:p.P418L;ENSG00000170558:ENST00000269141:exon10:c.C1346T:p.P449L;	0.982035446610515	0.842
18	25570313	G	C	18	27990349	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.C1346G:p.P449R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.C1253G:p.P418R;ENSG00000170558:ENST00000269141:exon10:c.C1346G:p.P449R;	0.984302715926447	0.816
18	25570313	G	T	18	27990349	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.C1346A:p.P449Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.C1253A:p.P418Q;ENSG00000170558:ENST00000269141:exon10:c.C1346A:p.P449Q;	0.992718918781197	0.88
18	25570314	G	A	18	27990350	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.C1345T:p.P449S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.C1252T:p.P418S;ENSG00000170558:ENST00000269141:exon10:c.C1345T:p.P449S;	0.661982101467231	0.548
18	25570314	G	C	18	27990350	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.C1345G:p.P449A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.C1252G:p.P418A;ENSG00000170558:ENST00000269141:exon10:c.C1345G:p.P449A;	8.66691912378681E-4	0.14
18	25570314	G	T	18	27990350	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon10:c.C1345A:p.P449T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon9:c.C1252A:p.P418T;ENSG00000170558:ENST00000269141:exon10:c.C1345A:p.P449T;	0.464277882377027	0.44
18	25570315	C	A	18	27990351	y	y	splicing	CDH2(NM_001792:exon11:c.1345-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1345-1G>T;ENST00000399380:exon10:c.1252-1G>T)	.	.	0.999987124402133	0.938
18	25570315	C	G	18	27990351	y	y	splicing	CDH2(NM_001792:exon11:c.1345-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1345-1G>C;ENST00000399380:exon10:c.1252-1G>C)	.	.	0.999987124402133	0.938
18	25570315	C	T	18	27990351	y	y	splicing	CDH2(NM_001792:exon11:c.1345-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1345-1G>A;ENST00000399380:exon10:c.1252-1G>A)	.	.	0.999987124402133	0.938
18	25570316	T	A	18	27990352	y	y	splicing	CDH2(NM_001792:exon11:c.1345-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1345-2A>T;ENST00000399380:exon10:c.1252-2A>T)	.	.	0.999986607513753	0.92
18	25570316	T	C	18	27990352	y	y	splicing	CDH2(NM_001792:exon11:c.1345-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1345-2A>G;ENST00000399380:exon10:c.1252-2A>G)	.	.	0.999986607513753	0.918
18	25570316	T	G	18	27990352	y	y	splicing	CDH2(NM_001792:exon11:c.1345-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon11:c.1345-2A>C;ENST00000399380:exon10:c.1252-2A>C)	.	.	0.999986607513753	0.918
18	25570317	G	A	18	27990353	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0336478001556599	0.1
18	25570317	G	C	18	27990353	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999777339960473	0.906
18	25570317	G	T	18	27990353	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.959077786989212	0.808
18	25570318	G	A	18	27990354	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.66519946335462E-5	0.0
18	25570318	G	C	18	27990354	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.66519946335462E-5	0.0
18	25570318	G	T	18	27990354	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.51965981708353E-5	0.0
18	25570319	A	C	18	27990355	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.120525118671718	0.25
18	25570319	A	G	18	27990355	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00246250097192298	0.1
18	25570319	A	T	18	27990355	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00508267979466323	0.148
18	25570320	A	C	18	27990356	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00522651609491413	0.096
18	25570320	A	G	18	27990356	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.33329772087532E-4	0.0
18	25570320	A	T	18	27990356	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00522651609491413	0.056
18	25570321	A	C	18	27990357	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00173558411761291	0.076
18	25570321	A	G	18	27990357	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.7140674895527E-4	0.006
18	25570321	A	T	18	27990357	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00210071527694958	0.082
18	25570322	A	C	18	27990358	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998574012499114	0.982
18	25570322	A	G	18	27990358	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.00869874211487E-5	0.0
18	25570322	A	T	18	27990358	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.44109206840877E-4	0.046
18	25570323	T	A	18	27990359	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.52829269596303E-5	0.0
18	25570323	T	C	18	27990359	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.56004372696547E-5	0.002
18	25570323	T	G	18	27990359	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.34999318636917E-6	0.0
18	25570324	A	C	18	27990360	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.102374267576924	0.352
18	25570324	A	G	18	27990360	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0039339770800202	0.108
18	25570324	A	T	18	27990360	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.270486148134268	0.418
18	25570325	A	C	18	27990361	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00133883075995636	0.066
18	25570325	A	G	18	27990361	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.24995639696145E-4	0.04
18	25570325	A	T	18	27990361	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00271151105399564	0.116
18	25570326	A	C	18	27990362	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00222111906000493	0.122
18	25570326	A	G	18	27990362	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.13692736270062E-4	0.004
18	25570326	A	T	18	27990362	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00540691099979922	0.116
18	25572611	A	C	18	27992647	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.33672797455809E-5	0.048
18	25572611	A	G	18	27992647	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.20497298200597E-4	0.048
18	25572611	A	T	18	27992647	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.66587001208754E-6	0.022
18	25572612	C	A	18	27992648	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00233566774876716	0.066
18	25572612	C	G	18	27992648	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00564320720435065	0.072
18	25572612	C	T	18	27992648	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00233566774876716	0.094
18	25572613	A	C	18	27992649	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.285199833407548	0.594
18	25572613	A	G	18	27992649	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.410739767643058	0.708
18	25572613	A	T	18	27992649	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.569888250095753	0.652
18	25572614	C	A	18	27992650	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.997356701560557	0.91
18	25572614	C	G	18	27992650	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.988984404558275	0.916
18	25572614	C	T	18	27992650	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.991551210469004	0.924
18	25572615	T	A	18	27992651	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.997174196361357	0.814
18	25572615	T	C	18	27992651	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996989629453878	0.908
18	25572615	T	G	18	27992651	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996589081317945	0.87
18	25572616	T	A	18	27992652	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.949614385777483	0.692
18	25572616	T	C	18	27992652	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00757837709873057	0.194
18	25572616	T	G	18	27992652	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99972672325769	0.864
18	25572617	A	C	18	27992653	y	y	splicing	CDH2(NM_001792:exon10:c.1344+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1344+2T>G;ENST00000399380:exon9:c.1251+2T>G)	.	.	0.999988247793601	0.932
18	25572617	A	G	18	27992653	y	y	splicing	CDH2(NM_001792:exon10:c.1344+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1344+2T>C;ENST00000399380:exon9:c.1251+2T>C)	.	.	0.99340600729494	0.718
18	25572617	A	T	18	27992653	y	y	splicing	CDH2(NM_001792:exon10:c.1344+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1344+2T>A;ENST00000399380:exon9:c.1251+2T>A)	.	.	0.999988247793601	0.932
18	25572618	C	A	18	27992654	y	y	splicing	CDH2(NM_001792:exon10:c.1344+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1344+1G>T;ENST00000399380:exon9:c.1251+1G>T)	.	.	0.999990361384395	0.938
18	25572618	C	G	18	27992654	y	y	splicing	CDH2(NM_001792:exon10:c.1344+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1344+1G>C;ENST00000399380:exon9:c.1251+1G>C)	.	.	0.999990361384395	0.938
18	25572618	C	T	18	27992654	y	y	splicing	CDH2(NM_001792:exon10:c.1344+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1344+1G>A;ENST00000399380:exon9:c.1251+1G>A)	.	.	0.999990361384395	0.938
18	25572619	T	A	18	27992655	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.A1344T:p.K448N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.A1251T:p.K417N;ENSG00000170558:ENST00000269141:exon9:c.A1344T:p.K448N;	0.00142481097501482	0.19
18	25572619	T	C	18	27992655	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon9:c.A1344G:p.K448K;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.A1251G:p.K417K;ENSG00000170558:ENST00000269141:exon9:c.A1344G:p.K448K;	4.2531308556749E-5	0.026
18	25572619	T	G	18	27992655	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.A1344C:p.K448N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.A1251C:p.K417N;ENSG00000170558:ENST00000269141:exon9:c.A1344C:p.K448N;	8.31342749365215E-5	0.18
18	25572620	T	A	18	27992656	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.A1343T:p.K448I;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.A1250T:p.K417I;ENSG00000170558:ENST00000269141:exon9:c.A1343T:p.K448I;	0.990591309879365	0.804
18	25572620	T	C	18	27992656	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.A1343G:p.K448R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.A1250G:p.K417R;ENSG00000170558:ENST00000269141:exon9:c.A1343G:p.K448R;	0.994765396042039	0.866
18	25572620	T	G	18	27992656	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.A1343C:p.K448T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.A1250C:p.K417T;ENSG00000170558:ENST00000269141:exon9:c.A1343C:p.K448T;	0.989359095367916	0.884
18	25572621	T	A	18	27992657	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon9:c.A1342T:p.K448X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon8:c.A1249T:p.K417X;ENSG00000170558:ENST00000269141:exon9:c.A1342T:p.K448X;	0.96284451291047	0.71
18	25572621	T	C	18	27992657	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.A1342G:p.K448E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.A1249G:p.K417E;ENSG00000170558:ENST00000269141:exon9:c.A1342G:p.K448E;	0.61210792316452	0.526
18	25572621	T	G	18	27992657	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.A1342C:p.K448Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.A1249C:p.K417Q;ENSG00000170558:ENST00000269141:exon9:c.A1342C:p.K448Q;	0.84007843456749	0.732
18	25572803	A	C	18	27992839	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.T1160G:p.F387C;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.T1067G:p.F356C;ENSG00000170558:ENST00000269141:exon9:c.T1160G:p.F387C;	0.728002565374057	0.568
18	25572803	A	G	18	27992839	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.T1160C:p.F387S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.T1067C:p.F356S;ENSG00000170558:ENST00000269141:exon9:c.T1160C:p.F387S;	0.755998037598872	0.576
18	25572803	A	T	18	27992839	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.T1160A:p.F387Y;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.T1067A:p.F356Y;ENSG00000170558:ENST00000269141:exon9:c.T1160A:p.F387Y;	0.408520290652728	0.312
18	25572804	A	C	18	27992840	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.T1159G:p.F387V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.T1066G:p.F356V;ENSG00000170558:ENST00000269141:exon9:c.T1159G:p.F387V;	0.79581536519976	0.632
18	25572804	A	G	18	27992840	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.T1159C:p.F387L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.T1066C:p.F356L;ENSG00000170558:ENST00000269141:exon9:c.T1159C:p.F387L;	0.909383527490714	0.854
18	25572804	A	T	18	27992840	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon9:c.T1159A:p.F387I;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon8:c.T1066A:p.F356I;ENSG00000170558:ENST00000269141:exon9:c.T1159A:p.F387I;	0.755207235815968	0.71
18	25572805	C	A	18	27992841	y	y	splicing	CDH2(NM_001792:exon10:c.1159-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1159-1G>T;ENST00000399380:exon9:c.1066-1G>T)	.	.	0.999990361384395	0.938
18	25572805	C	G	18	27992841	y	y	splicing	CDH2(NM_001792:exon10:c.1159-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1159-1G>C;ENST00000399380:exon9:c.1066-1G>C)	.	.	0.999990361384395	0.938
18	25572805	C	T	18	27992841	y	y	splicing	CDH2(NM_001792:exon10:c.1159-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1159-1G>A;ENST00000399380:exon9:c.1066-1G>A)	.	.	0.999990361384395	0.938
18	25572806	T	A	18	27992842	y	y	splicing	CDH2(NM_001792:exon10:c.1159-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1159-2A>T;ENST00000399380:exon9:c.1066-2A>T)	.	.	0.999988247793601	0.932
18	25572806	T	C	18	27992842	y	y	splicing	CDH2(NM_001792:exon10:c.1159-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1159-2A>G;ENST00000399380:exon9:c.1066-2A>G)	.	.	0.999988247793601	0.93
18	25572806	T	G	18	27992842	y	y	splicing	CDH2(NM_001792:exon10:c.1159-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon10:c.1159-2A>C;ENST00000399380:exon9:c.1066-2A>C)	.	.	0.999988247793601	0.93
18	25572807	G	A	18	27992843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00159960788093949	0.154
18	25572807	G	C	18	27992843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999576881149386	0.832
18	25572807	G	T	18	27992843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.944447998467429	0.42
18	25572808	C	A	18	27992844	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.63386902974576E-4	0.002
18	25572808	C	G	18	27992844	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.22864185934612E-4	0.0
18	25572808	C	T	18	27992844	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.88017483858572E-4	0.0
18	25572809	G	A	18	27992845	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.49914628115587E-5	0.0
18	25572809	G	C	18	27992845	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.16178374652332E-4	0.044
18	25572809	G	T	18	27992845	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.959911917014184	0.884
18	25572810	A	C	18	27992846	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0233181069135641	0.138
18	25572810	A	G	18	27992846	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.31500980380783E-4	0.024
18	25572810	A	T	18	27992846	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0584847465777173	0.124
18	25572811	G	A	18	27992847	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.27431340273439E-4	0.138
18	25572811	G	C	18	27992847	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0156598796706943	0.152
18	25572811	G	T	18	27992847	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.016821899094218	0.11
18	25572812	A	C	18	27992848	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.13696558240981E-4	0.192
18	25572812	A	G	18	27992848	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.48968505284958E-4	0.006
18	25572812	A	T	18	27992848	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00119542773448724	0.122
18	25572813	A	C	18	27992849	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0239547282240234	0.1
18	25572813	A	G	18	27992849	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00103760621078722	0.054
18	25572813	A	T	18	27992849	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00374267919970719	0.158
18	25572814	A	C	18	27992850	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00431671247654473	0.164
18	25572814	A	G	18	27992850	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.3812740218136E-4	0.008
18	25572814	A	T	18	27992850	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0206010192615896	0.242
18	25572815	G	A	18	27992851	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.18837954276398E-5	0.006
18	25572815	G	C	18	27992851	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.24881275165383E-4	0.046
18	25572815	G	T	18	27992851	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00344678144395656	0.164
18	25572816	A	C	18	27992852	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00459103550841075	0.178
18	25572816	A	G	18	27992852	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.88245593679714E-4	0.038
18	25572816	A	T	18	27992852	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00334820930216502	0.172
18	25573456	G	A	18	27993492	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.22509695417391E-5	0.0
18	25573456	G	C	18	27993492	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.77109886147231E-5	0.0
18	25573456	G	T	18	27993492	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.99422805862137E-5	0.004
18	25573457	T	A	18	27993493	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.04880898606558E-4	0.002
18	25573457	T	C	18	27993493	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.51591174045998E-4	0.008
18	25573457	T	G	18	27993493	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.51591174045998E-4	0.008
18	25573458	A	C	18	27993494	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00718488420794031	0.172
18	25573458	A	G	18	27993494	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0228256314314997	0.134
18	25573458	A	T	18	27993494	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.030294491317469	0.234
18	25573459	C	A	18	27993495	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999784337587313	0.882
18	25573459	C	G	18	27993495	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999881813841478	0.98
18	25573459	C	T	18	27993495	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999649554093102	0.904
18	25573460	T	A	18	27993496	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.987297669981987	0.776
18	25573460	T	C	18	27993496	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996142923649763	0.742
18	25573460	T	G	18	27993496	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.909275134586456	0.604
18	25573461	C	A	18	27993497	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0443791984412882	0.328
18	25573461	C	G	18	27993497	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.029179732740583	0.282
18	25573461	C	T	18	27993497	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.68901122781474E-5	0.002
18	25573462	A	C	18	27993498	y	y	splicing	CDH2(NM_001792:exon9:c.1158+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1158+2T>G;ENST00000399380:exon8:c.1065+2T>G)	.	.	0.999988247793601	0.932
18	25573462	A	G	18	27993498	y	y	splicing	CDH2(NM_001792:exon9:c.1158+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1158+2T>C;ENST00000399380:exon8:c.1065+2T>C)	.	.	0.999945827492243	0.87
18	25573462	A	T	18	27993498	y	y	splicing	CDH2(NM_001792:exon9:c.1158+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1158+2T>A;ENST00000399380:exon8:c.1065+2T>A)	.	.	0.999988247793601	0.932
18	25573463	C	A	18	27993499	y	y	splicing	CDH2(NM_001792:exon9:c.1158+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1158+1G>T;ENST00000399380:exon8:c.1065+1G>T)	.	.	0.999990361384395	0.938
18	25573463	C	G	18	27993499	y	y	splicing	CDH2(NM_001792:exon9:c.1158+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1158+1G>C;ENST00000399380:exon8:c.1065+1G>C)	.	.	0.999990361384395	0.938
18	25573463	C	T	18	27993499	y	y	splicing	CDH2(NM_001792:exon9:c.1158+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1158+1G>A;ENST00000399380:exon8:c.1065+1G>A)	.	.	0.999990361384395	0.938
18	25573464	C	A	18	27993500	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon8:c.G1158T:p.T386T;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.G1065T:p.T355T;ENSG00000170558:ENST00000269141:exon8:c.G1158T:p.T386T;	0.392035241738316	0.522
18	25573464	C	G	18	27993500	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon8:c.G1158C:p.T386T;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.G1065C:p.T355T;ENSG00000170558:ENST00000269141:exon8:c.G1158C:p.T386T;	0.118292445984331	0.442
18	25573464	C	T	18	27993500	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon8:c.G1158A:p.T386T;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.G1065A:p.T355T;ENSG00000170558:ENST00000269141:exon8:c.G1158A:p.T386T;	0.341727589765185	0.514
18	25573465	G	A	18	27993501	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.C1157T:p.T386M;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.C1064T:p.T355M;ENSG00000170558:ENST00000269141:exon8:c.C1157T:p.T386M;	0.836468728105803	0.63
18	25573465	G	C	18	27993501	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.C1157G:p.T386R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.C1064G:p.T355R;ENSG00000170558:ENST00000269141:exon8:c.C1157G:p.T386R;	0.990624305688115	0.782
18	25573465	G	T	18	27993501	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.C1157A:p.T386K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.C1064A:p.T355K;ENSG00000170558:ENST00000269141:exon8:c.C1157A:p.T386K;	0.702986020382587	0.464
18	25573466	T	A	18	27993502	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.A1156T:p.T386S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.A1063T:p.T355S;ENSG00000170558:ENST00000269141:exon8:c.A1156T:p.T386S;	0.0402407845505305	0.19
18	25573466	T	C	18	27993502	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.A1156G:p.T386A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.A1063G:p.T355A;ENSG00000170558:ENST00000269141:exon8:c.A1156G:p.T386A;	0.00762177022870856	0.064
18	25573466	T	G	18	27993502	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.A1156C:p.T386P;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.A1063C:p.T355P;ENSG00000170558:ENST00000269141:exon8:c.A1156C:p.T386P;	0.0289970363640719	0.23
18	25573600	T	A	18	27993636	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.A1022T:p.K341I;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.A929T:p.K310I;ENSG00000170558:ENST00000269141:exon8:c.A1022T:p.K341I;	0.912113728420781	0.808
18	25573600	T	C	18	27993636	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.A1022G:p.K341R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.A929G:p.K310R;ENSG00000170558:ENST00000269141:exon8:c.A1022G:p.K341R;	0.920005699972606	0.794
18	25573600	T	G	18	27993636	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.A1022C:p.K341T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.A929C:p.K310T;ENSG00000170558:ENST00000269141:exon8:c.A1022C:p.K341T;	0.926576780270762	0.854
18	25573601	T	A	18	27993637	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon8:c.A1021T:p.K341X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon7:c.A928T:p.K310X;ENSG00000170558:ENST00000269141:exon8:c.A1021T:p.K341X;	0.570031056258443	0.666
18	25573601	T	C	18	27993637	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.A1021G:p.K341E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.A928G:p.K310E;ENSG00000170558:ENST00000269141:exon8:c.A1021G:p.K341E;	0.723396275066965	0.718
18	25573601	T	G	18	27993637	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon8:c.A1021C:p.K341Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon7:c.A928C:p.K310Q;ENSG00000170558:ENST00000269141:exon8:c.A1021C:p.K341Q;	0.521601504167048	0.726
18	25573602	C	A	18	27993638	y	y	splicing	CDH2(NM_001792:exon9:c.1021-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1021-1G>T;ENST00000399380:exon8:c.928-1G>T)	.	.	0.999990361384395	0.938
18	25573602	C	G	18	27993638	y	y	splicing	CDH2(NM_001792:exon9:c.1021-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1021-1G>C;ENST00000399380:exon8:c.928-1G>C)	.	.	0.999990361384395	0.938
18	25573602	C	T	18	27993638	y	y	splicing	CDH2(NM_001792:exon9:c.1021-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1021-1G>A;ENST00000399380:exon8:c.928-1G>A)	.	.	0.999990361384395	0.938
18	25573603	T	A	18	27993639	y	y	splicing	CDH2(NM_001792:exon9:c.1021-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1021-2A>T;ENST00000399380:exon8:c.928-2A>T)	.	.	0.999988247793601	0.932
18	25573603	T	C	18	27993639	y	y	splicing	CDH2(NM_001792:exon9:c.1021-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1021-2A>G;ENST00000399380:exon8:c.928-2A>G)	.	.	0.999988247793601	0.932
18	25573603	T	G	18	27993639	y	y	splicing	CDH2(NM_001792:exon9:c.1021-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon9:c.1021-2A>C;ENST00000399380:exon8:c.928-2A>C)	.	.	0.999988247793601	0.932
18	25573604	A	C	18	27993640	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999578298683831	0.864
18	25573604	A	G	18	27993640	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.35054423657178E-5	0.004
18	25573604	A	T	18	27993640	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.249442846330889	0.306
18	25573605	A	C	18	27993641	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.20254929009843E-4	0.046
18	25573605	A	G	18	27993641	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.05658946449842E-4	0.01
18	25573605	A	T	18	27993641	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00148571260050321	0.042
18	25573606	A	C	18	27993642	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.958743143589803	0.696
18	25573606	A	G	18	27993642	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00938328170575158	0.094
18	25573606	A	T	18	27993642	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.836461439567122	0.668
18	25573607	A	C	18	27993643	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.248971988643779	0.296
18	25573607	A	G	18	27993643	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.63723200290325E-4	0.002
18	25573607	A	T	18	27993643	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0747165264408464	0.29
18	25573608	A	C	18	27993644	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0641968199096864	0.3
18	25573608	A	G	18	27993644	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.27800872652918E-4	0.02
18	25573608	A	T	18	27993644	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.29317028737923	0.4
18	25573609	G	A	18	27993645	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0018069107041544	0.076
18	25573609	G	C	18	27993645	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0134061767772471	0.268
18	25573609	G	T	18	27993645	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.035046362022418	0.318
18	25573610	A	C	18	27993646	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.698015249093118	0.542
18	25573610	A	G	18	27993646	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00228308494071032	0.048
18	25573610	A	T	18	27993646	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.790832227915013	0.566
18	25573611	C	A	18	27993647	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.56188236998598E-5	0.004
18	25573611	C	G	18	27993647	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.3534335464377E-5	0.004
18	25573611	C	T	18	27993647	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.10908830994406E-4	0.018
18	25573612	A	C	18	27993648	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999891234216228	0.934
18	25573612	A	G	18	27993648	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.920221674844407	0.524
18	25573612	A	T	18	27993648	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999904327251874	0.922
18	25573613	T	A	18	27993649	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.65752056471522E-5	0.004
18	25573613	T	C	18	27993649	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.71552108342061E-5	0.016
18	25573613	T	G	18	27993649	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.1621623822489E-5	0.004
18	25582953	T	A	18	28002989	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.07390800396584E-4	0.012
18	25582953	T	C	18	28002989	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.88218051323705E-4	0.016
18	25582953	T	G	18	28002989	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.88218051323705E-4	0.002
18	25582954	G	A	18	28002990	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.14058943178062E-4	0.008
18	25582954	G	C	18	28002990	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.53956003130403E-4	0.004
18	25582954	G	T	18	28002990	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.53956003130403E-4	0.002
18	25582955	G	A	18	28002991	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.67118760392156E-5	0.018
18	25582955	G	C	18	28002991	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.97528037122795E-5	0.034
18	25582955	G	T	18	28002991	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.11498036559663E-4	0.026
18	25582956	C	A	18	28002992	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999969162415415	0.98
18	25582956	C	G	18	28002992	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999986827894857	0.978
18	25582956	C	T	18	28002992	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999971214631254	1.0
18	25582957	T	A	18	28002993	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.997661440728545	0.91
18	25582957	T	C	18	28002993	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996426613593389	0.904
18	25582957	T	G	18	28002993	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996564867774993	0.878
18	25582958	T	A	18	28002994	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999674231614525	0.876
18	25582958	T	C	18	28002994	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0887785104425749	0.428
18	25582958	T	G	18	28002994	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999521805630221	0.852
18	25582959	A	C	18	28002995	y	y	splicing	CDH2(NM_001792:exon8:c.1020+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.1020+2T>G;ENST00000399380:exon7:c.927+2T>G)	.	.	0.999988247793601	0.932
18	25582959	A	G	18	28002995	y	y	splicing	CDH2(NM_001792:exon8:c.1020+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.1020+2T>C;ENST00000399380:exon7:c.927+2T>C)	.	.	0.992054276455321	0.674
18	25582959	A	T	18	28002995	y	y	splicing	CDH2(NM_001792:exon8:c.1020+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.1020+2T>A;ENST00000399380:exon7:c.927+2T>A)	.	.	0.999988247793601	0.932
18	25582960	C	A	18	28002996	y	y	splicing	CDH2(NM_001792:exon8:c.1020+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.1020+1G>T;ENST00000399380:exon7:c.927+1G>T)	.	.	0.999989072007339	0.934
18	25582960	C	G	18	28002996	y	y	splicing	CDH2(NM_001792:exon8:c.1020+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.1020+1G>C;ENST00000399380:exon7:c.927+1G>C)	.	.	0.999989072007339	0.934
18	25582960	C	T	18	28002996	y	y	splicing	CDH2(NM_001792:exon8:c.1020+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.1020+1G>A;ENST00000399380:exon7:c.927+1G>A)	.	.	0.999989072007339	0.934
18	25582961	T	A	18	28002997	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.A1020T:p.E340D;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A927T:p.E309D;ENSG00000170558:ENST00000269141:exon7:c.A1020T:p.E340D;	1.99913243602045E-4	0.176
18	25582961	T	C	18	28002997	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon7:c.A1020G:p.E340E;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A927G:p.E309E;ENSG00000170558:ENST00000269141:exon7:c.A1020G:p.E340E;	3.23440220843959E-4	0.128
18	25582961	T	G	18	28002997	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.A1020C:p.E340D;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A927C:p.E309D;ENSG00000170558:ENST00000269141:exon7:c.A1020C:p.E340D;	2.37316839988092E-5	0.228
18	25582962	T	A	18	28002998	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.A1019T:p.E340V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A926T:p.E309V;ENSG00000170558:ENST00000269141:exon7:c.A1019T:p.E340V;	0.99986860119203	0.996
18	25582962	T	C	18	28002998	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.A1019G:p.E340G;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A926G:p.E309G;ENSG00000170558:ENST00000269141:exon7:c.A1019G:p.E340G;	0.999856151036648	0.992
18	25582962	T	G	18	28002998	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.A1019C:p.E340A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A926C:p.E309A;ENSG00000170558:ENST00000269141:exon7:c.A1019C:p.E340A;	0.999803050478428	0.982
18	25582963	C	A	18	28002999	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon7:c.G1018T:p.E340X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon6:c.G925T:p.E309X;ENSG00000170558:ENST00000269141:exon7:c.G1018T:p.E340X;	0.996325249850504	0.872
18	25582963	C	G	18	28002999	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.G1018C:p.E340Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.G925C:p.E309Q;ENSG00000170558:ENST00000269141:exon7:c.G1018C:p.E340Q;	0.963934380011275	0.79
18	25582963	C	T	18	28002999	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.G1018A:p.E340K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.G925A:p.E309K;ENSG00000170558:ENST00000269141:exon7:c.G1018A:p.E340K;	0.963934380011275	0.82
18	25583132	T	A	18	28003168	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon7:c.A849T:p.G283G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A756T:p.G252G;ENSG00000170558:ENST00000269141:exon7:c.A849T:p.G283G;	3.33623695093769E-5	0.0
18	25583132	T	C	18	28003168	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon7:c.A849G:p.G283G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A756G:p.G252G;ENSG00000170558:ENST00000269141:exon7:c.A849G:p.G283G;	9.52958119366812E-4	0.05
18	25583132	T	G	18	28003168	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon7:c.A849C:p.G283G;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.A756C:p.G252G;ENSG00000170558:ENST00000269141:exon7:c.A849C:p.G283G;	9.73975810363759E-4	0.03
18	25583133	C	A	18	28003169	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.G848T:p.G283V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.G755T:p.G252V;ENSG00000170558:ENST00000269141:exon7:c.G848T:p.G283V;	0.999957569032667	0.986
18	25583133	C	G	18	28003169	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.G848C:p.G283A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.G755C:p.G252A;ENSG00000170558:ENST00000269141:exon7:c.G848C:p.G283A;	0.999925481939059	0.974
18	25583133	C	T	18	28003169	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon7:c.G848A:p.G283E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon6:c.G755A:p.G252E;ENSG00000170558:ENST00000269141:exon7:c.G848A:p.G283E;	0.999856626357583	0.964
18	25583134	C	A	18	28003170	y	y	splicing	CDH2(NM_001792:exon8:c.848-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.848-1G>T;ENST00000399380:exon7:c.755-1G>T)	.	.	0.999991412108771	0.936
18	25583134	C	G	18	28003170	y	y	splicing	CDH2(NM_001792:exon8:c.848-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.848-1G>C;ENST00000399380:exon7:c.755-1G>C)	.	.	0.999991412108771	0.936
18	25583134	C	T	18	28003170	y	y	splicing	CDH2(NM_001792:exon8:c.848-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.848-1G>A;ENST00000399380:exon7:c.755-1G>A)	.	.	0.999991412108771	0.936
18	25583135	T	A	18	28003171	y	y	splicing	CDH2(NM_001792:exon8:c.848-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.848-2A>T;ENST00000399380:exon7:c.755-2A>T)	.	.	0.999990764389106	0.934
18	25583135	T	C	18	28003171	y	y	splicing	CDH2(NM_001792:exon8:c.848-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.848-2A>G;ENST00000399380:exon7:c.755-2A>G)	.	.	0.999990764389106	0.934
18	25583135	T	G	18	28003171	y	y	splicing	CDH2(NM_001792:exon8:c.848-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon8:c.848-2A>C;ENST00000399380:exon7:c.755-2A>C)	.	.	0.999990764389106	0.934
18	25583136	A	C	18	28003172	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.986171377334509	0.726
18	25583136	A	G	18	28003172	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.29022496653467E-4	0.036
18	25583136	A	T	18	28003172	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.149182465610928	0.446
18	25583137	G	A	18	28003173	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00178924016945308	0.088
18	25583137	G	C	18	28003173	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0383964631897022	0.262
18	25583137	G	T	18	28003173	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00168015868328483	0.128
18	25583138	A	C	18	28003174	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.812697948239074	0.474
18	25583138	A	G	18	28003174	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.25910930760029E-4	0.174
18	25583138	A	T	18	28003174	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.244127306322444	0.476
18	25583139	G	A	18	28003175	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.86555325000103E-4	0.008
18	25583139	G	C	18	28003175	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0256073992159874	0.472
18	25583139	G	T	18	28003175	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0135320279726156	0.466
18	25583140	A	C	18	28003176	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.236178514129872	0.43
18	25583140	A	G	18	28003176	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.16703551400006E-4	0.122
18	25583140	A	T	18	28003176	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.165068570171791	0.444
18	25583141	C	A	18	28003177	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.0662721838492E-4	0.012
18	25583141	C	G	18	28003177	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.10882069107203E-5	0.0
18	25583141	C	T	18	28003177	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00133541110855165	0.078
18	25583142	A	C	18	28003178	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.991484137063394	0.846
18	25583142	A	G	18	28003178	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0616807571039918	0.15
18	25583142	A	T	18	28003178	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999980643913423	0.976
18	25583143	G	A	18	28003179	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.78219185892888E-5	0.034
18	25583143	G	C	18	28003179	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999975774266204	0.93
18	25583143	G	T	18	28003179	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00167575178980232	0.12
18	25583144	T	A	18	28003180	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0012395898016293	0.366
18	25583144	T	C	18	28003180	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.22303032016208E-4	0.178
18	25583144	T	G	18	28003180	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.68796825140974E-4	0.326
18	25583145	G	A	18	28003181	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.76855630702781E-4	0.27
18	25583145	G	C	18	28003181	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99996781600868	0.93
18	25583145	G	T	18	28003181	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.48784116139536E-4	0.148
18	25585805	A	C	18	28005841	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.39980422642338E-4	0.0
18	25585805	A	G	18	28005841	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.38652481526464E-4	0.0
18	25585805	A	T	18	28005841	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.39980422642338E-4	0.0
18	25585806	A	C	18	28005842	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.40839623268995E-5	0.0
18	25585806	A	G	18	28005842	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.46425991095372E-5	0.0
18	25585806	A	T	18	28005842	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.46425991095372E-5	0.0
18	25585807	A	C	18	28005843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00393303799033658	0.244
18	25585807	A	G	18	28005843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0703519332654524	0.388
18	25585807	A	T	18	28005843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.034359342757768	0.334
18	25585808	C	A	18	28005844	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998562248949577	0.894
18	25585808	C	G	18	28005844	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999331317824788	0.888
18	25585808	C	T	18	28005844	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.997743861360653	0.956
18	25585809	T	A	18	28005845	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.365952835306237	0.416
18	25585809	T	C	18	28005845	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.559363362778224	0.462
18	25585809	T	G	18	28005845	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.317980368473301	0.278
18	25585810	T	A	18	28005846	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.985279195004199	0.636
18	25585810	T	C	18	28005846	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.72778744190164E-4	0.086
18	25585810	T	G	18	28005846	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.987290276804405	0.684
18	25585811	A	C	18	28005847	y	y	splicing	CDH2(NM_001792:exon7:c.847+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.847+2T>G;ENST00000399380:exon6:c.754+2T>G)	.	.	0.999988247793601	0.932
18	25585811	A	G	18	28005847	y	y	splicing	CDH2(NM_001792:exon7:c.847+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.847+2T>C;ENST00000399380:exon6:c.754+2T>C)	.	.	0.99340600729494	0.704
18	25585811	A	T	18	28005847	y	y	splicing	CDH2(NM_001792:exon7:c.847+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.847+2T>A;ENST00000399380:exon6:c.754+2T>A)	.	.	0.999988247793601	0.932
18	25585812	C	A	18	28005848	y	y	splicing	CDH2(NM_001792:exon7:c.847+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.847+1G>T;ENST00000399380:exon6:c.754+1G>T)	.	.	0.999990361384395	0.938
18	25585812	C	G	18	28005848	y	y	splicing	CDH2(NM_001792:exon7:c.847+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.847+1G>C;ENST00000399380:exon6:c.754+1G>C)	.	.	0.999990361384395	0.938
18	25585812	C	T	18	28005848	y	y	splicing	CDH2(NM_001792:exon7:c.847+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.847+1G>A;ENST00000399380:exon6:c.754+1G>A)	.	.	0.999990361384395	0.938
18	25585813	C	A	18	28005849	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon6:c.G847T:p.G283X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon5:c.G754T:p.G252X;ENSG00000170558:ENST00000269141:exon6:c.G847T:p.G283X;	0.999917446403229	0.948
18	25585813	C	G	18	28005849	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.G847C:p.G283R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.G754C:p.G252R;ENSG00000170558:ENST00000269141:exon6:c.G847C:p.G283R;	0.999925444677427	0.956
18	25585813	C	T	18	28005849	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.G847A:p.G283R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.G754A:p.G252R;ENSG00000170558:ENST00000269141:exon6:c.G847A:p.G283R;	0.999748993318958	0.868
18	25585814	A	C	18	28005850	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon6:c.T846G:p.P282P;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.T753G:p.P251P;ENSG00000170558:ENST00000269141:exon6:c.T846G:p.P282P;	2.64813059298529E-4	0.028
18	25585814	A	G	18	28005850	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon6:c.T846C:p.P282P;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.T753C:p.P251P;ENSG00000170558:ENST00000269141:exon6:c.T846C:p.P282P;	1.7330127874941E-4	0.002
18	25585814	A	T	18	28005850	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon6:c.T846A:p.P282P;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.T753A:p.P251P;ENSG00000170558:ENST00000269141:exon6:c.T846A:p.P282P;	8.54420248435518E-5	0.12
18	25585815	G	A	18	28005851	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.C845T:p.P282L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.C752T:p.P251L;ENSG00000170558:ENST00000269141:exon6:c.C845T:p.P282L;	0.998144026371559	0.672
18	25585815	G	C	18	28005851	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.C845G:p.P282R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.C752G:p.P251R;ENSG00000170558:ENST00000269141:exon6:c.C845G:p.P282R;	0.926736865931242	0.586
18	25585815	G	T	18	28005851	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.C845A:p.P282H;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.C752A:p.P251H;ENSG00000170558:ENST00000269141:exon6:c.C845A:p.P282H;	0.962742850491569	0.8
18	25585956	A	C	18	28005992	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.T704G:p.L235W;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.T611G:p.L204W;ENSG00000170558:ENST00000418492:exon5:c.T551G:p.L184W;ENSG00000170558:ENST00000269141:exon6:c.T704G:p.L235W;	0.929912141476382	0.466
18	25585956	A	G	18	28005992	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.T704C:p.L235S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.T611C:p.L204S;ENSG00000170558:ENST00000418492:exon5:c.T551C:p.L184S;ENSG00000170558:ENST00000269141:exon6:c.T704C:p.L235S;	0.934297469383705	0.476
18	25585956	A	T	18	28005992	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon6:c.T704A:p.L235X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon5:c.T611A:p.L204X;ENSG00000170558:ENST00000418492:exon5:c.T551A:p.L184X;ENSG00000170558:ENST00000269141:exon6:c.T704A:p.L235X;	0.926737332012952	0.584
18	25585957	A	C	18	28005993	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.T703G:p.L235V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.T610G:p.L204V;ENSG00000170558:ENST00000418492:exon5:c.T550G:p.L184V;ENSG00000170558:ENST00000269141:exon6:c.T703G:p.L235V;	0.00123085368166195	0.29
18	25585957	A	G	18	28005993	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon6:c.T703C:p.L235L;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.T610C:p.L204L;ENSG00000170558:ENST00000418492:exon5:c.T550C:p.L184L;ENSG00000170558:ENST00000269141:exon6:c.T703C:p.L235L;	9.89131643286317E-5	0.068
18	25585957	A	T	18	28005993	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon6:c.T703A:p.L235M;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon5:c.T610A:p.L204M;ENSG00000170558:ENST00000418492:exon5:c.T550A:p.L184M;ENSG00000170558:ENST00000269141:exon6:c.T703A:p.L235M;	5.18471979383652E-4	0.33
18	25585958	C	A	18	28005994	y	y	splicing	CDH2(NM_001792:exon7:c.703-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.703-1G>T;ENST00000399380:exon6:c.610-1G>T;ENST00000418492:exon6:c.550-1G>T)	.	.	0.999990361384395	0.948
18	25585958	C	G	18	28005994	y	y	splicing	CDH2(NM_001792:exon7:c.703-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.703-1G>C;ENST00000399380:exon6:c.610-1G>C;ENST00000418492:exon6:c.550-1G>C)	.	.	0.999990361384395	0.948
18	25585958	C	T	18	28005994	y	y	splicing	CDH2(NM_001792:exon7:c.703-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.703-1G>A;ENST00000399380:exon6:c.610-1G>A;ENST00000418492:exon6:c.550-1G>A)	.	.	0.999990361384395	0.948
18	25585959	T	A	18	28005995	y	y	splicing	CDH2(NM_001792:exon7:c.703-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.703-2A>T;ENST00000399380:exon6:c.610-2A>T;ENST00000418492:exon6:c.550-2A>T)	.	.	0.999988247793601	0.95
18	25585959	T	C	18	28005995	y	y	splicing	CDH2(NM_001792:exon7:c.703-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.703-2A>G;ENST00000399380:exon6:c.610-2A>G;ENST00000418492:exon6:c.550-2A>G)	.	.	0.999988247793601	0.95
18	25585959	T	G	18	28005995	y	y	splicing	CDH2(NM_001792:exon7:c.703-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon7:c.703-2A>C;ENST00000399380:exon6:c.610-2A>C;ENST00000418492:exon6:c.550-2A>C)	.	.	0.999988247793601	0.95
18	25585960	G	A	18	28005996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.15507125312936	0.22
18	25585960	G	C	18	28005996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999866234871243	0.99
18	25585960	G	T	18	28005996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998169686322332	0.94
18	25585961	C	A	18	28005997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00114691425156052	0.064
18	25585961	C	G	18	28005997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.34697992355902E-4	0.074
18	25585961	C	T	18	28005997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00114691425156052	0.056
18	25585962	A	C	18	28005998	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.92443066205386	0.754
18	25585962	A	G	18	28005998	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0264939723504021	0.172
18	25585962	A	T	18	28005998	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999701715061443	0.968
18	25585963	A	C	18	28005999	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.965873344035899	0.728
18	25585963	A	G	18	28005999	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0128280639926353	0.122
18	25585963	A	T	18	28005999	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.993056439761841	0.822
18	25585964	A	C	18	28006000	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0887528684284181	0.26
18	25585964	A	G	18	28006000	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.46340578509458E-4	0.114
18	25585964	A	T	18	28006000	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0612694146573877	0.234
18	25585965	A	C	18	28006001	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0847694300266257	0.286
18	25585965	A	G	18	28006001	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.98442152274239E-4	0.014
18	25585965	A	T	18	28006001	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.202346170730366	0.4
18	25585966	G	A	18	28006002	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.26316207026411E-4	0.014
18	25585966	G	C	18	28006002	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999903148434427	0.946
18	25585966	G	T	18	28006002	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00638708327789016	0.058
18	25585967	T	A	18	28006003	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.79654677198473E-4	0.066
18	25585967	T	C	18	28006003	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.87721362886628E-4	0.018
18	25585967	T	G	18	28006003	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.85748688967279E-4	0.018
18	25585968	A	C	18	28006004	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.945040081550116	0.744
18	25585968	A	G	18	28006004	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0812110383468112	0.266
18	25585968	A	T	18	28006004	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.988416619989819	0.794
18	25585969	A	C	18	28006005	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999890938244647	0.966
18	25585969	A	G	18	28006005	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0278037641891651	0.13
18	25585969	A	T	18	28006005	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.948203068309058	0.71
18	25589673	A	C	18	28009709	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.51400172726677E-5	0.002
18	25589673	A	G	18	28009709	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.45735237250109E-4	0.0
18	25589673	A	T	18	28009709	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.02827307868775E-4	0.002
18	25589674	A	C	18	28009710	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.36650916406986E-4	0.006
18	25589674	A	G	18	28009710	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.73196469460495E-4	0.01
18	25589674	A	T	18	28009710	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.83583601989792E-4	0.022
18	25589675	T	A	18	28009711	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.50617568286963E-5	0.066
18	25589675	T	C	18	28009711	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.76572223633337E-6	0.09
18	25589675	T	G	18	28009711	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.53421653422938E-5	0.122
18	25589676	C	A	18	28009712	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999985306835235	0.968
18	25589676	C	G	18	28009712	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999902504987272	0.978
18	25589676	C	T	18	28009712	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999991317948592	0.994
18	25589677	T	A	18	28009713	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999508361930721	0.944
18	25589677	T	C	18	28009713	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999821177717539	0.996
18	25589677	T	G	18	28009713	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999776185613908	0.946
18	25589678	T	A	18	28009714	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999968659789232	0.984
18	25589678	T	C	18	28009714	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999395926278269	0.758
18	25589678	T	G	18	28009714	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999943872721082	0.986
18	25589679	A	C	18	28009715	y	y	splicing	CDH2(NM_001792:exon6:c.702+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.702+2T>G;ENST00000399380:exon5:c.609+2T>G;ENST00000418492:exon5:c.549+2T>G)	.	.	0.999988247793601	0.944
18	25589679	A	G	18	28009715	y	y	splicing	CDH2(NM_001792:exon6:c.702+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.702+2T>C;ENST00000399380:exon5:c.609+2T>C;ENST00000418492:exon5:c.549+2T>C)	.	.	0.996714406757111	0.72
18	25589679	A	T	18	28009715	y	y	splicing	CDH2(NM_001792:exon6:c.702+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.702+2T>A;ENST00000399380:exon5:c.609+2T>A;ENST00000418492:exon5:c.549+2T>A)	.	.	0.999988247793601	0.944
18	25589680	C	A	18	28009716	y	y	splicing	CDH2(NM_001792:exon6:c.702+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.702+1G>T;ENST00000399380:exon5:c.609+1G>T;ENST00000418492:exon5:c.549+1G>T)	.	.	0.999989072007339	0.942
18	25589680	C	G	18	28009716	y	y	splicing	CDH2(NM_001792:exon6:c.702+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.702+1G>C;ENST00000399380:exon5:c.609+1G>C;ENST00000418492:exon5:c.549+1G>C)	.	.	0.999989072007339	0.942
18	25589680	C	T	18	28009716	y	y	splicing	CDH2(NM_001792:exon6:c.702+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.702+1G>A;ENST00000399380:exon5:c.609+1G>A;ENST00000418492:exon5:c.549+1G>A)	.	.	0.999989072007339	0.942
18	25589681	A	C	18	28009717	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.T702G:p.H234Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.T609G:p.H203Q;ENSG00000170558:ENST00000418492:exon4:c.T549G:p.H183Q;ENSG00000170558:ENST00000269141:exon5:c.T702G:p.H234Q;	2.69066504832089E-4	0.356
18	25589681	A	G	18	28009717	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon5:c.T702C:p.H234H;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.T609C:p.H203H;ENSG00000170558:ENST00000418492:exon4:c.T549C:p.H183H;ENSG00000170558:ENST00000269141:exon5:c.T702C:p.H234H;	0.00270149707815096	0.236
18	25589681	A	T	18	28009717	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.T702A:p.H234Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.T609A:p.H203Q;ENSG00000170558:ENST00000418492:exon4:c.T549A:p.H183Q;ENSG00000170558:ENST00000269141:exon5:c.T702A:p.H234Q;	5.93837652099818E-4	0.324
18	25589682	T	A	18	28009718	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.A701T:p.H234L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.A608T:p.H203L;ENSG00000170558:ENST00000418492:exon4:c.A548T:p.H183L;ENSG00000170558:ENST00000269141:exon5:c.A701T:p.H234L;	0.99994467795987	0.994
18	25589682	T	C	18	28009718	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.A701G:p.H234R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.A608G:p.H203R;ENSG00000170558:ENST00000418492:exon4:c.A548G:p.H183R;ENSG00000170558:ENST00000269141:exon5:c.A701G:p.H234R;	0.999895500850703	0.956
18	25589682	T	G	18	28009718	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.A701C:p.H234P;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.A608C:p.H203P;ENSG00000170558:ENST00000418492:exon4:c.A548C:p.H183P;ENSG00000170558:ENST00000269141:exon5:c.A701C:p.H234P;	0.999942108618505	0.998
18	25589683	G	A	18	28009719	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.C700T:p.H234Y;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.C607T:p.H203Y;ENSG00000170558:ENST00000418492:exon4:c.C547T:p.H183Y;ENSG00000170558:ENST00000269141:exon5:c.C700T:p.H234Y;	0.999876815279151	0.972
18	25589683	G	C	18	28009719	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.C700G:p.H234D;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.C607G:p.H203D;ENSG00000170558:ENST00000418492:exon4:c.C547G:p.H183D;ENSG00000170558:ENST00000269141:exon5:c.C700G:p.H234D;	0.990534295700847	0.642
18	25589683	G	T	18	28009719	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.C700A:p.H234N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.C607A:p.H203N;ENSG00000170558:ENST00000418492:exon4:c.C547A:p.H183N;ENSG00000170558:ENST00000269141:exon5:c.C700A:p.H234N;	0.959503144631447	0.842
18	25589835	A	C	18	28009871	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.T548G:p.I183S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.T455G:p.I152S;ENSG00000170558:ENST00000430882:exon4:c.T293G:p.I98S;ENSG00000170558:ENST00000418492:exon4:c.T395G:p.I132S;ENSG00000170558:ENST00000269141:exon5:c.T548G:p.I183S;	0.524972804604779	0.576
18	25589835	A	G	18	28009871	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.T548C:p.I183T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.T455C:p.I152T;ENSG00000170558:ENST00000430882:exon4:c.T293C:p.I98T;ENSG00000170558:ENST00000418492:exon4:c.T395C:p.I132T;ENSG00000170558:ENST00000269141:exon5:c.T548C:p.I183T;	0.417975121462037	0.578
18	25589835	A	T	18	28009871	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.T548A:p.I183N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.T455A:p.I152N;ENSG00000170558:ENST00000430882:exon4:c.T293A:p.I98N;ENSG00000170558:ENST00000418492:exon4:c.T395A:p.I132N;ENSG00000170558:ENST00000269141:exon5:c.T548A:p.I183N;	0.512107900929076	0.568
18	25589836	T	A	18	28009872	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.A547T:p.I183F;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.A454T:p.I152F;ENSG00000170558:ENST00000430882:exon4:c.A292T:p.I98F;ENSG00000170558:ENST00000418492:exon4:c.A394T:p.I132F;ENSG00000170558:ENST00000269141:exon5:c.A547T:p.I183F;	0.544922672169444	0.59
18	25589836	T	C	18	28009872	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.A547G:p.I183V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.A454G:p.I152V;ENSG00000170558:ENST00000430882:exon4:c.A292G:p.I98V;ENSG00000170558:ENST00000418492:exon4:c.A394G:p.I132V;ENSG00000170558:ENST00000269141:exon5:c.A547G:p.I183V;	0.746024077595885	0.682
18	25589836	T	G	18	28009872	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon5:c.A547C:p.I183L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon4:c.A454C:p.I152L;ENSG00000170558:ENST00000430882:exon4:c.A292C:p.I98L;ENSG00000170558:ENST00000418492:exon4:c.A394C:p.I132L;ENSG00000170558:ENST00000269141:exon5:c.A547C:p.I183L;	0.548712081683101	0.672
18	25589837	C	A	18	28009873	y	y	splicing	CDH2(NM_001792:exon6:c.547-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.547-1G>T;ENST00000399380:exon5:c.454-1G>T;ENST00000418492:exon5:c.394-1G>T;ENST00000430882:exon5:c.292-1G>T)	.	.	0.999989072007339	0.934
18	25589837	C	G	18	28009873	y	y	splicing	CDH2(NM_001792:exon6:c.547-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.547-1G>C;ENST00000399380:exon5:c.454-1G>C;ENST00000418492:exon5:c.394-1G>C;ENST00000430882:exon5:c.292-1G>C)	.	.	0.999989072007339	0.934
18	25589837	C	T	18	28009873	y	y	splicing	CDH2(NM_001792:exon6:c.547-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.547-1G>A;ENST00000399380:exon5:c.454-1G>A;ENST00000418492:exon5:c.394-1G>A;ENST00000430882:exon5:c.292-1G>A)	.	.	0.999989072007339	0.934
18	25589838	T	A	18	28009874	y	y	splicing	CDH2(NM_001792:exon6:c.547-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.547-2A>T;ENST00000399380:exon5:c.454-2A>T;ENST00000418492:exon5:c.394-2A>T;ENST00000430882:exon5:c.292-2A>T)	.	.	0.999988247793601	0.93
18	25589838	T	C	18	28009874	y	y	splicing	CDH2(NM_001792:exon6:c.547-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.547-2A>G;ENST00000399380:exon5:c.454-2A>G;ENST00000418492:exon5:c.394-2A>G;ENST00000430882:exon5:c.292-2A>G)	.	.	0.999988247793601	0.93
18	25589838	T	G	18	28009874	y	y	splicing	CDH2(NM_001792:exon6:c.547-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon6:c.547-2A>C;ENST00000399380:exon5:c.454-2A>C;ENST00000418492:exon5:c.394-2A>C;ENST00000430882:exon5:c.292-2A>C)	.	.	0.999988247793601	0.93
18	25589839	G	A	18	28009875	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.150988149618447	0.126
18	25589839	G	C	18	28009875	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999934782450013	0.966
18	25589839	G	T	18	28009875	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999874339265735	0.914
18	25589840	A	C	18	28009876	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.05972401041025E-4	0.026
18	25589840	A	G	18	28009876	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.69664356880032E-4	0.02
18	25589840	A	T	18	28009876	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00174780414233011	0.018
18	25589841	G	A	18	28009877	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00186837924901932	0.038
18	25589841	G	C	18	28009877	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0445981274493187	0.19
18	25589841	G	T	18	28009877	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0496749472805807	0.198
18	25589842	G	A	18	28009878	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00153287823131715	0.04
18	25589842	G	C	18	28009878	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.558051244244625	0.332
18	25589842	G	T	18	28009878	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.414346808248096	0.312
18	25589843	A	C	18	28009879	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999966449513201	0.986
18	25589843	A	G	18	28009879	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.66908223760779E-5	0.002
18	25589843	A	T	18	28009879	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0895298107487336	0.338
18	25589844	T	A	18	28009880	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.8553674683589E-4	0.006
18	25589844	T	C	18	28009880	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00233978765007845	0.004
18	25589844	T	G	18	28009880	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00133369115897619	0.008
18	25589845	C	A	18	28009881	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.483056128519964	0.588
18	25589845	C	G	18	28009881	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.599313912899512	0.602
18	25589845	C	T	18	28009881	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.707884471266987	0.648
18	25589846	A	C	18	28009882	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998265709601208	0.874
18	25589846	A	G	18	28009882	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.432021922638673	0.492
18	25589846	A	T	18	28009882	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999971400409328	0.964
18	25589847	A	C	18	28009883	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.980820273660755	0.696
18	25589847	A	G	18	28009883	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.191358101643577	0.26
18	25589847	A	T	18	28009883	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.987096092701142	0.812
18	25589848	G	A	18	28009884	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.0765146913471E-4	0.07
18	25589848	G	C	18	28009884	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00128265205116647	0.032
18	25589848	G	T	18	28009884	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00462228260676944	0.072
18	25591802	C	A	18	28011838	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.77945247904412E-4	0.0
18	25591802	C	G	18	28011838	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.16974542655893E-4	0.0
18	25591802	C	T	18	28011838	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.97641107789576E-4	0.01
18	25591803	A	C	18	28011839	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.54216331497813E-4	0.0
18	25591803	A	G	18	28011839	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.54216331497813E-4	0.0
18	25591803	A	T	18	28011839	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.54216331497813E-4	0.002
18	25591804	C	A	18	28011840	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.68888198031501E-5	0.0
18	25591804	C	G	18	28011840	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.36866305701842E-4	0.058
18	25591804	C	T	18	28011840	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.79070830988421E-4	0.002
18	25591805	C	A	18	28011841	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99777250893891	0.854
18	25591805	C	G	18	28011841	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99373512677068	0.814
18	25591805	C	T	18	28011841	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998911018347589	0.944
18	25591806	T	A	18	28011842	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.406308021414367	0.462
18	25591806	T	C	18	28011842	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.579059998823158	0.522
18	25591806	T	G	18	28011842	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.408424636930339	0.354
18	25591807	T	A	18	28011843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999869880784242	0.942
18	25591807	T	C	18	28011843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.693667495443097	0.534
18	25591807	T	G	18	28011843	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99974199162185	0.904
18	25591808	A	C	18	28011844	y	y	splicing	CDH2(NM_001792:exon5:c.546+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.546+2T>G;ENST00000399380:exon4:c.453+2T>G;ENST00000418492:exon4:c.393+2T>G;ENST00000430882:exon4:c.291+2T>G)	.	.	0.999988247793601	0.932
18	25591808	A	G	18	28011844	y	y	splicing	CDH2(NM_001792:exon5:c.546+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.546+2T>C;ENST00000399380:exon4:c.453+2T>C;ENST00000418492:exon4:c.393+2T>C;ENST00000430882:exon4:c.291+2T>C)	.	.	0.999931547473318	0.888
18	25591808	A	T	18	28011844	y	y	splicing	CDH2(NM_001792:exon5:c.546+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.546+2T>A;ENST00000399380:exon4:c.453+2T>A;ENST00000418492:exon4:c.393+2T>A;ENST00000430882:exon4:c.291+2T>A)	.	.	0.999988247793601	0.932
18	25591809	C	A	18	28011845	y	y	splicing	CDH2(NM_001792:exon5:c.546+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.546+1G>T;ENST00000399380:exon4:c.453+1G>T;ENST00000418492:exon4:c.393+1G>T;ENST00000430882:exon4:c.291+1G>T)	.	.	0.999989072007339	0.934
18	25591809	C	G	18	28011845	y	y	splicing	CDH2(NM_001792:exon5:c.546+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.546+1G>C;ENST00000399380:exon4:c.453+1G>C;ENST00000418492:exon4:c.393+1G>C;ENST00000430882:exon4:c.291+1G>C)	.	.	0.999989072007339	0.934
18	25591809	C	T	18	28011845	y	y	splicing	CDH2(NM_001792:exon5:c.546+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.546+1G>A;ENST00000399380:exon4:c.453+1G>A;ENST00000418492:exon4:c.393+1G>A;ENST00000430882:exon4:c.291+1G>A)	.	.	0.999989072007339	0.934
18	25591810	C	A	18	28011846	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.G546T:p.R182S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.G453T:p.R151S;ENSG00000170558:ENST00000430882:exon3:c.G291T:p.R97S;ENSG00000170558:ENST00000418492:exon3:c.G393T:p.R131S;ENSG00000170558:ENST00000269141:exon4:c.G546T:p.R182S;	0.999965564556582	1.0
18	25591810	C	G	18	28011846	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.G546C:p.R182S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.G453C:p.R151S;ENSG00000170558:ENST00000430882:exon3:c.G291C:p.R97S;ENSG00000170558:ENST00000418492:exon3:c.G393C:p.R131S;ENSG00000170558:ENST00000269141:exon4:c.G546C:p.R182S;	0.999992545453112	0.986
18	25591810	C	T	18	28011846	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon4:c.G546A:p.R182R;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.G453A:p.R151R;ENSG00000170558:ENST00000430882:exon3:c.G291A:p.R97R;ENSG00000170558:ENST00000418492:exon3:c.G393A:p.R131R;ENSG00000170558:ENST00000269141:exon4:c.G546A:p.R182R;	0.999867336034038	0.998
18	25591811	C	A	18	28011847	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.G545T:p.R182M;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.G452T:p.R151M;ENSG00000170558:ENST00000430882:exon3:c.G290T:p.R97M;ENSG00000170558:ENST00000418492:exon3:c.G392T:p.R131M;ENSG00000170558:ENST00000269141:exon4:c.G545T:p.R182M;	0.991246449439132	0.862
18	25591811	C	G	18	28011847	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.G545C:p.R182T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.G452C:p.R151T;ENSG00000170558:ENST00000430882:exon3:c.G290C:p.R97T;ENSG00000170558:ENST00000418492:exon3:c.G392C:p.R131T;ENSG00000170558:ENST00000269141:exon4:c.G545C:p.R182T;	0.986725980218239	0.92
18	25591811	C	T	18	28011847	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.G545A:p.R182K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.G452A:p.R151K;ENSG00000170558:ENST00000430882:exon3:c.G290A:p.R97K;ENSG00000170558:ENST00000418492:exon3:c.G392A:p.R131K;ENSG00000170558:ENST00000269141:exon4:c.G545A:p.R182K;	0.958369657443152	0.678
18	25591812	T	A	18	28011848	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.A544T:p.R182W;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.A451T:p.R151W;ENSG00000170558:ENST00000430882:exon3:c.A289T:p.R97W;ENSG00000170558:ENST00000418492:exon3:c.A391T:p.R131W;ENSG00000170558:ENST00000269141:exon4:c.A544T:p.R182W;	0.0918206204611901	0.282
18	25591812	T	C	18	28011848	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.A544G:p.R182G;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.A451G:p.R151G;ENSG00000170558:ENST00000430882:exon3:c.A289G:p.R97G;ENSG00000170558:ENST00000418492:exon3:c.A391G:p.R131G;ENSG00000170558:ENST00000269141:exon4:c.A544G:p.R182G;	0.00593700301697533	0.03
18	25591812	T	G	18	28011848	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon4:c.A544C:p.R182R;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.A451C:p.R151R;ENSG00000170558:ENST00000430882:exon3:c.A289C:p.R97R;ENSG00000170558:ENST00000418492:exon3:c.A391C:p.R131R;ENSG00000170558:ENST00000269141:exon4:c.A544C:p.R182R;	1.51329027924688E-4	0.0
18	25591955	T	A	18	28011991	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.A401T:p.E134V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.A308T:p.E103V;ENSG00000170558:ENST00000430882:exon3:c.A146T:p.E49V;ENSG00000170558:ENST00000413878:exon4:c.A146T:p.E49V;ENSG00000170558:ENST00000418492:exon3:c.A248T:p.E83V;ENSG00000170558:ENST00000269141:exon4:c.A401T:p.E134V;	7.19964864558247E-5	0.036
18	25591955	T	C	18	28011991	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.A401G:p.E134G;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.A308G:p.E103G;ENSG00000170558:ENST00000430882:exon3:c.A146G:p.E49G;ENSG00000170558:ENST00000413878:exon4:c.A146G:p.E49G;ENSG00000170558:ENST00000418492:exon3:c.A248G:p.E83G;ENSG00000170558:ENST00000269141:exon4:c.A401G:p.E134G;	5.01598536793821E-5	0.016
18	25591955	T	G	18	28011991	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.A401C:p.E134A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.A308C:p.E103A;ENSG00000170558:ENST00000430882:exon3:c.A146C:p.E49A;ENSG00000170558:ENST00000413878:exon4:c.A146C:p.E49A;ENSG00000170558:ENST00000418492:exon3:c.A248C:p.E83A;ENSG00000170558:ENST00000269141:exon4:c.A401C:p.E134A;	2.85633544435084E-4	0.018
18	25591956	C	A	18	28011992	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon4:c.G400T:p.E134X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon3:c.G307T:p.E103X;ENSG00000170558:ENST00000430882:exon3:c.G145T:p.E49X;ENSG00000170558:ENST00000413878:exon4:c.G145T:p.E49X;ENSG00000170558:ENST00000418492:exon3:c.G247T:p.E83X;ENSG00000170558:ENST00000269141:exon4:c.G400T:p.E134X;	0.999974857563111	0.978
18	25591956	C	G	18	28011992	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.G400C:p.E134Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.G307C:p.E103Q;ENSG00000170558:ENST00000430882:exon3:c.G145C:p.E49Q;ENSG00000170558:ENST00000413878:exon4:c.G145C:p.E49Q;ENSG00000170558:ENST00000418492:exon3:c.G247C:p.E83Q;ENSG00000170558:ENST00000269141:exon4:c.G400C:p.E134Q;	0.861345533348441	0.59
18	25591956	C	T	18	28011992	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon4:c.G400A:p.E134K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon3:c.G307A:p.E103K;ENSG00000170558:ENST00000430882:exon3:c.G145A:p.E49K;ENSG00000170558:ENST00000413878:exon4:c.G145A:p.E49K;ENSG00000170558:ENST00000418492:exon3:c.G247A:p.E83K;ENSG00000170558:ENST00000269141:exon4:c.G400A:p.E134K;	0.983289580354431	0.59
18	25591957	C	A	18	28011993	y	y	splicing	CDH2(NM_001792:exon5:c.400-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.400-1G>T;ENST00000399380:exon4:c.307-1G>T;ENST00000418492:exon4:c.247-1G>T;ENST00000430882:exon4:c.145-1G>T;ENST00000413878:exon5:c.145-1G>T)	.	.	0.999952212744152	0.822
18	25591957	C	G	18	28011993	y	y	splicing	CDH2(NM_001792:exon5:c.400-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.400-1G>C;ENST00000399380:exon4:c.307-1G>C;ENST00000418492:exon4:c.247-1G>C;ENST00000430882:exon4:c.145-1G>C;ENST00000413878:exon5:c.145-1G>C)	.	.	0.999952212744152	0.81
18	25591957	C	T	18	28011993	y	y	splicing	CDH2(NM_001792:exon5:c.400-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.400-1G>A;ENST00000399380:exon4:c.307-1G>A;ENST00000418492:exon4:c.247-1G>A;ENST00000430882:exon4:c.145-1G>A;ENST00000413878:exon5:c.145-1G>A)	.	.	0.999910350759719	0.82
18	25591958	T	A	18	28011994	y	y	splicing	CDH2(NM_001792:exon5:c.400-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.400-2A>T;ENST00000399380:exon4:c.307-2A>T;ENST00000418492:exon4:c.247-2A>T;ENST00000430882:exon4:c.145-2A>T;ENST00000413878:exon5:c.145-2A>T)	.	.	0.999961180693324	0.814
18	25591958	T	C	18	28011994	y	y	splicing	CDH2(NM_001792:exon5:c.400-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.400-2A>G;ENST00000399380:exon4:c.307-2A>G;ENST00000418492:exon4:c.247-2A>G;ENST00000430882:exon4:c.145-2A>G;ENST00000413878:exon5:c.145-2A>G)	.	.	0.999961180693324	0.784
18	25591958	T	G	18	28011994	y	y	splicing	CDH2(NM_001792:exon5:c.400-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon5:c.400-2A>C;ENST00000399380:exon4:c.307-2A>C;ENST00000418492:exon4:c.247-2A>C;ENST00000430882:exon4:c.145-2A>C;ENST00000413878:exon5:c.145-2A>C)	.	.	0.999961180693324	0.782
18	25591959	T	A	18	28011995	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.79480644403975E-4	0.066
18	25591959	T	C	18	28011995	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0901995802386295	0.302
18	25591959	T	G	18	28011995	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.72993520246543E-4	0.13
18	25591960	T	A	18	28011996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.54322581659789E-5	0.002
18	25591960	T	C	18	28011996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.56554891869312E-5	0.012
18	25591960	T	G	18	28011996	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.28243775873269E-5	0.002
18	25591961	A	C	18	28011997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.413646697314196	0.52
18	25591961	A	G	18	28011997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.50462735175293E-5	0.058
18	25591961	A	T	18	28011997	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0449382399638643	0.474
18	25591962	C	A	18	28011998	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.78202750844944E-5	0.01
18	25591962	C	G	18	28011998	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.78202750844944E-5	0.014
18	25591962	C	T	18	28011998	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.31204734671132E-5	0.026
18	25591963	A	C	18	28011999	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.982312896059926	0.63
18	25591963	A	G	18	28011999	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.85340747133255E-5	0.036
18	25591963	A	T	18	28011999	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.982312896059926	0.628
18	25591964	T	A	18	28012000	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.9372476874435E-5	0.012
18	25591964	T	C	18	28012000	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.983959892973827	0.918
18	25591964	T	G	18	28012000	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.72688864504328E-5	0.014
18	25591965	T	A	18	28012001	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.52515013039301E-5	0.006
18	25591965	T	C	18	28012001	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.61737031991486E-4	0.046
18	25591965	T	G	18	28012001	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.63756184029401E-5	0.002
18	25591966	A	C	18	28012002	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.210752978746971	0.47
18	25591966	A	G	18	28012002	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.27699073412751E-4	0.058
18	25591966	A	T	18	28012002	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0253158007983355	0.496
18	25591967	A	C	18	28012003	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.267403640059822	0.448
18	25591967	A	G	18	28012003	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0851052721185198	0.4
18	25591967	A	T	18	28012003	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.899405207142823	0.594
18	25591968	A	C	18	28012004	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.269434829257163	0.542
18	25591968	A	G	18	28012004	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.31903971788954E-4	0.126
18	25591968	A	T	18	28012004	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.506705920595766	0.62
18	25593639	T	A	18	28013675	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.60263425494106E-5	0.012
18	25593639	T	C	18	28013675	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.1930492655505E-5	0.0
18	25593639	T	G	18	28013675	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.14389796911757E-5	0.0
18	25593640	A	C	18	28013676	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.54767522980652E-4	0.008
18	25593640	A	G	18	28013676	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.55076633896961E-4	0.008
18	25593640	A	T	18	28013676	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.23011084976989E-4	0.008
18	25593641	C	A	18	28013677	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.88109179096491E-5	0.026
18	25593641	C	G	18	28013677	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.34916910352699E-4	0.082
18	25593641	C	T	18	28013677	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.20220557776091E-4	0.07
18	25593642	T	A	18	28013678	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.10107211814347E-4	0.006
18	25593642	T	C	18	28013678	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.54389621797646E-4	0.102
18	25593642	T	G	18	28013678	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.29866962149427E-5	0.018
18	25593643	A	C	18	28013679	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.69735053235927E-5	0.036
18	25593643	A	G	18	28013679	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.83692575280781E-4	0.01
18	25593643	A	T	18	28013679	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.98084976163058E-4	0.104
18	25593644	T	A	18	28013680	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999795391460544	0.962
18	25593644	T	C	18	28013680	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.998809884165441	0.904
18	25593644	T	G	18	28013680	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999880279305544	0.968
18	25593645	A	C	18	28013681	y	y	splicing	CDH2(NM_001792:exon4:c.399+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.399+2T>G;ENST00000399380:exon3:c.306+2T>G;ENST00000418492:exon3:c.246+2T>G;ENST00000430882:exon3:c.144+2T>G;ENST00000413878:exon4:c.144+2T>G)	.	.	0.999986741007567	0.942
18	25593645	A	G	18	28013681	y	y	splicing	CDH2(NM_001792:exon4:c.399+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.399+2T>C;ENST00000399380:exon3:c.306+2T>C;ENST00000418492:exon3:c.246+2T>C;ENST00000430882:exon3:c.144+2T>C;ENST00000413878:exon4:c.144+2T>C)	.	.	0.992193430225094	0.644
18	25593645	A	T	18	28013681	y	y	splicing	CDH2(NM_001792:exon4:c.399+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.399+2T>A;ENST00000399380:exon3:c.306+2T>A;ENST00000418492:exon3:c.246+2T>A;ENST00000430882:exon3:c.144+2T>A;ENST00000413878:exon4:c.144+2T>A)	.	.	0.999986741007567	0.942
18	25593646	C	A	18	28013682	y	y	splicing	CDH2(NM_001792:exon4:c.399+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.399+1G>T;ENST00000399380:exon3:c.306+1G>T;ENST00000418492:exon3:c.246+1G>T;ENST00000430882:exon3:c.144+1G>T;ENST00000413878:exon4:c.144+1G>T)	.	.	0.999984967332678	0.938
18	25593646	C	G	18	28013682	y	y	splicing	CDH2(NM_001792:exon4:c.399+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.399+1G>C;ENST00000399380:exon3:c.306+1G>C;ENST00000418492:exon3:c.246+1G>C;ENST00000430882:exon3:c.144+1G>C;ENST00000413878:exon4:c.144+1G>C)	.	.	0.999984967332678	0.938
18	25593646	C	T	18	28013682	y	y	splicing	CDH2(NM_001792:exon4:c.399+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.399+1G>A;ENST00000399380:exon3:c.306+1G>A;ENST00000418492:exon3:c.246+1G>A;ENST00000430882:exon3:c.144+1G>A;ENST00000413878:exon4:c.144+1G>A)	.	.	0.999984967332678	0.938
18	25593647	C	A	18	28013683	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.G399T:p.K133N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.G306T:p.K102N;ENSG00000170558:ENST00000430882:exon2:c.G144T:p.K48N;ENSG00000170558:ENST00000413878:exon3:c.G144T:p.K48N;ENSG00000170558:ENST00000418492:exon2:c.G246T:p.K82N;ENSG00000170558:ENST00000269141:exon3:c.G399T:p.K133N;	0.999985010735345	1.0
18	25593647	C	G	18	28013683	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.G399C:p.K133N;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.G306C:p.K102N;ENSG00000170558:ENST00000430882:exon2:c.G144C:p.K48N;ENSG00000170558:ENST00000413878:exon3:c.G144C:p.K48N;ENSG00000170558:ENST00000418492:exon2:c.G246C:p.K82N;ENSG00000170558:ENST00000269141:exon3:c.G399C:p.K133N;	0.999995206619471	1.0
18	25593647	C	T	18	28013683	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon3:c.G399A:p.K133K;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.G306A:p.K102K;ENSG00000170558:ENST00000430882:exon2:c.G144A:p.K48K;ENSG00000170558:ENST00000413878:exon3:c.G144A:p.K48K;ENSG00000170558:ENST00000418492:exon2:c.G246A:p.K82K;ENSG00000170558:ENST00000269141:exon3:c.G399A:p.K133K;	0.999985720516337	1.0
18	25593648	T	A	18	28013684	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.A398T:p.K133M;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.A305T:p.K102M;ENSG00000170558:ENST00000430882:exon2:c.A143T:p.K48M;ENSG00000170558:ENST00000413878:exon3:c.A143T:p.K48M;ENSG00000170558:ENST00000418492:exon2:c.A245T:p.K82M;ENSG00000170558:ENST00000269141:exon3:c.A398T:p.K133M;	0.999952100842618	0.992
18	25593648	T	C	18	28013684	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.A398G:p.K133R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.A305G:p.K102R;ENSG00000170558:ENST00000430882:exon2:c.A143G:p.K48R;ENSG00000170558:ENST00000413878:exon3:c.A143G:p.K48R;ENSG00000170558:ENST00000418492:exon2:c.A245G:p.K82R;ENSG00000170558:ENST00000269141:exon3:c.A398G:p.K133R;	0.999542823109631	0.994
18	25593648	T	G	18	28013684	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.A398C:p.K133T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.A305C:p.K102T;ENSG00000170558:ENST00000430882:exon2:c.A143C:p.K48T;ENSG00000170558:ENST00000413878:exon3:c.A143C:p.K48T;ENSG00000170558:ENST00000418492:exon2:c.A245C:p.K82T;ENSG00000170558:ENST00000269141:exon3:c.A398C:p.K133T;	0.999528734627575	0.978
18	25593649	T	A	18	28013685	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon3:c.A397T:p.K133X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon2:c.A304T:p.K102X;ENSG00000170558:ENST00000430882:exon2:c.A142T:p.K48X;ENSG00000170558:ENST00000413878:exon3:c.A142T:p.K48X;ENSG00000170558:ENST00000418492:exon2:c.A244T:p.K82X;ENSG00000170558:ENST00000269141:exon3:c.A397T:p.K133X;	0.983805751427279	0.804
18	25593649	T	C	18	28013685	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.A397G:p.K133E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.A304G:p.K102E;ENSG00000170558:ENST00000430882:exon2:c.A142G:p.K48E;ENSG00000170558:ENST00000413878:exon3:c.A142G:p.K48E;ENSG00000170558:ENST00000418492:exon2:c.A244G:p.K82E;ENSG00000170558:ENST00000269141:exon3:c.A397G:p.K133E;	0.0103283108892197	0.072
18	25593649	T	G	18	28013685	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.A397C:p.K133Q;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.A304C:p.K102Q;ENSG00000170558:ENST00000430882:exon2:c.A142C:p.K48Q;ENSG00000170558:ENST00000413878:exon3:c.A142C:p.K48Q;ENSG00000170558:ENST00000418492:exon2:c.A244C:p.K82Q;ENSG00000170558:ENST00000269141:exon3:c.A397C:p.K133Q;	8.60497867110375E-4	0.004
18	25593872	C	A	18	28013908	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon3:c.G174T:p.V58V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon2:c.G21T:p.M7I;	1.33888712642796E-4	0.002
18	25593872	C	G	18	28013908	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon3:c.G174C:p.V58V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon2:c.G21C:p.M7I;	2.87817559087913E-4	0.018
18	25593872	C	T	18	28013908	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon3:c.G174A:p.V58V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon2:c.G21A:p.M7I;	2.50299535368712E-4	0.018
18	25593873	A	C	18	28013909	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.T173G:p.V58G;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.T80G:p.V27G;ENSG00000170558:ENST00000418492:exon2:c.T20G:p.M7R;ENSG00000170558:ENST00000269141:exon3:c.T173G:p.V58G;	0.0245282617951136	0.182
18	25593873	A	G	18	28013909	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.T173C:p.V58A;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.T80C:p.V27A;ENSG00000170558:ENST00000418492:exon2:c.T20C:p.M7T;ENSG00000170558:ENST00000269141:exon3:c.T173C:p.V58A;	0.00728687561867617	0.048
18	25593873	A	T	18	28013909	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon3:c.T173A:p.V58E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon2:c.T80A:p.V27E;ENSG00000170558:ENST00000418492:exon2:c.T20A:p.M7K;ENSG00000170558:ENST00000269141:exon3:c.T173A:p.V58E;	0.0371333500014841	0.376
18	25593874	C	A	18	28013910	y	y	splicing	CDH2(NM_001792:exon4:c.173-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.173-1G>T;ENST00000399380:exon3:c.80-1G>T;ENST00000418492:exon3:c.20-1G>T)	.	.	0.999986675681007	0.932
18	25593874	C	G	18	28013910	y	y	splicing	CDH2(NM_001792:exon4:c.173-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.173-1G>C;ENST00000399380:exon3:c.80-1G>C;ENST00000418492:exon3:c.20-1G>C)	.	.	0.999986675681007	0.932
18	25593874	C	T	18	28013910	y	y	splicing	CDH2(NM_001792:exon4:c.173-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.173-1G>A;ENST00000399380:exon3:c.80-1G>A;ENST00000418492:exon3:c.20-1G>A)	.	.	0.999986675681007	0.932
18	25593875	T	A	18	28013911	y	y	splicing	CDH2(NM_001792:exon4:c.173-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.173-2A>T;ENST00000399380:exon3:c.80-2A>T;ENST00000418492:exon3:c.20-2A>T)	.	.	0.999988247793601	0.928
18	25593875	T	C	18	28013911	y	y	splicing	CDH2(NM_001792:exon4:c.173-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.173-2A>G;ENST00000399380:exon3:c.80-2A>G;ENST00000418492:exon3:c.20-2A>G)	.	.	0.999988247793601	0.928
18	25593875	T	G	18	28013911	y	y	splicing	CDH2(NM_001792:exon4:c.173-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon4:c.173-2A>C;ENST00000399380:exon3:c.80-2A>C;ENST00000418492:exon3:c.20-2A>C)	.	.	0.999988247793601	0.928
18	25593876	G	A	18	28013912	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.131570917973307	0.154
18	25593876	G	C	18	28013912	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999938680180793	0.954
18	25593876	G	T	18	28013912	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.992655375320527	0.842
18	25593877	T	A	18	28013913	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.8191648767172E-5	0.004
18	25593877	T	C	18	28013913	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.63618347904412E-4	0.006
18	25593877	T	G	18	28013913	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.11365270106568E-4	0.004
18	25593878	A	C	18	28013914	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.216276700700936	0.43
18	25593878	A	G	18	28013914	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0036259626488221	0.042
18	25593878	A	T	18	28013914	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0495938588085165	0.328
18	25593879	A	C	18	28013915	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0251377709894795	0.152
18	25593879	A	G	18	28013915	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.39736802556519E-4	0.012
18	25593879	A	T	18	28013915	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.060176014437077	0.156
18	25593880	A	C	18	28013916	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00760837901589216	0.172
18	25593880	A	G	18	28013916	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.52113709062637E-4	0.02
18	25593880	A	T	18	28013916	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00965142306372294	0.2
18	25593881	A	C	18	28013917	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00225898889525567	0.09
18	25593881	A	G	18	28013917	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.04665266141951E-4	0.002
18	25593881	A	T	18	28013917	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00158610893928458	0.13
18	25593882	G	A	18	28013918	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.50480503579511E-5	0.012
18	25593882	G	C	18	28013918	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.35124157836327E-4	0.05
18	25593882	G	T	18	28013918	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00348658511805907	0.076
18	25593883	A	C	18	28013919	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999911561135254	0.986
18	25593883	A	G	18	28013919	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.11740057646107E-4	0.0
18	25593883	A	T	18	28013919	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00269384025146738	0.172
18	25593884	T	A	18	28013920	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.61805658581683E-5	0.032
18	25593884	T	C	18	28013920	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.80471237087212E-5	0.002
18	25593884	T	G	18	28013920	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.68169111983183E-6	0.0
18	25593885	A	C	18	28013921	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.97174472250972E-4	0.076
18	25593885	A	G	18	28013921	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.55205843601273E-5	0.0
18	25593885	A	T	18	28013921	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.79504850595716E-4	0.06
18	25616426	T	A	18	28036462	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00846136031058494	0.146
18	25616426	T	C	18	28036462	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00846136031058494	0.056
18	25616426	T	G	18	28036462	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00846136031058494	0.056
18	25616427	T	A	18	28036463	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.56287500125342E-4	0.01
18	25616427	T	C	18	28036463	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.28522395021361E-4	0.022
18	25616427	T	G	18	28036463	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.28522395021361E-4	0.024
18	25616428	T	A	18	28036464	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.35500522259419E-4	0.012
18	25616428	T	C	18	28036464	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.35500522259419E-4	0.012
18	25616428	T	G	18	28036464	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.35500522259419E-4	0.012
18	25616429	G	A	18	28036465	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.41231753311375E-4	0.002
18	25616429	G	C	18	28036465	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.11968350887203E-4	0.002
18	25616429	G	T	18	28036465	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.41231753311375E-4	0.014
18	25616430	T	A	18	28036466	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.63490873950063E-4	0.01
18	25616430	T	C	18	28036466	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.35500522259419E-4	0.014
18	25616430	T	G	18	28036466	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.35500522259419E-4	0.014
18	25616431	T	A	18	28036467	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.70806772336452E-4	0.01
18	25616431	T	C	18	28036467	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.04375917686578E-4	0.01
18	25616431	T	G	18	28036467	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.04375917686578E-4	0.01
18	25616432	A	C	18	28036468	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000399380:exon2:c.79+2T>G)	.	.	0.390886620765127	0.64
18	25616432	A	G	18	28036468	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000399380:exon2:c.79+2T>C)	.	.	0.390886620765127	0.64
18	25616432	A	T	18	28036468	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000399380:exon2:c.79+2T>A)	.	.	0.670071718772625	0.76
18	25616433	C	A	18	28036469	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000399380:exon2:c.79+1G>T)	.	.	3.11828102568704E-4	0.004
18	25616433	C	G	18	28036469	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000399380:exon2:c.79+1G>C)	.	.	1.66802757202875E-4	0.002
18	25616433	C	T	18	28036469	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000399380:exon2:c.79+1G>A)	.	.	5.13889295159341E-4	0.014
18	25616434	C	A	18	28036470	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon1:c.G79T:p.V27L;	0.00107301212371935	0.116
18	25616434	C	G	18	28036470	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon1:c.G79C:p.V27L;	7.74981524808303E-4	0.028
18	25616434	C	T	18	28036470	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon1:c.G79A:p.V27M;	0.0153286185048163	0.15
18	25616435	T	A	18	28036471	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon1:c.A78T:p.S26S;	0.776966951985738	0.744
18	25616435	T	C	18	28036471	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon1:c.A78G:p.S26S;	0.622037677497374	0.732
18	25616435	T	G	18	28036471	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000399380:exon1:c.A78C:p.S26S;	0.622037677497374	0.732
18	25616436	G	A	18	28036472	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000399380:exon1:c.C77T:p.S26L;	0.00144369970288786	0.05
18	25616436	G	C	18	28036472	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon1:c.C77G:p.S26X;	0.287143840662804	0.556
18	25616436	G	T	18	28036472	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000399380:exon1:c.C77A:p.S26X;	0.287143840662804	0.556
18	25625367	A	C	18	28045403	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.74088084155096E-5	0.004
18	25625367	A	G	18	28045403	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.74088084155096E-5	0.004
18	25625367	A	T	18	28045403	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.51591174045998E-4	0.01
18	25625368	G	A	18	28045404	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.87192213223985E-4	0.084
18	25625368	G	C	18	28045404	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.14785528412137E-4	0.096
18	25625368	G	T	18	28045404	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.14785528412137E-4	0.096
18	25625369	A	C	18	28045405	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.25211152755068E-5	0.0
18	25625369	A	G	18	28045405	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.25211152755068E-5	0.0
18	25625369	A	T	18	28045405	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.25211152755068E-5	0.0
18	25625370	C	A	18	28045406	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.30945796578933E-5	0.0
18	25625370	C	G	18	28045406	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.30945796578933E-5	0.0
18	25625370	C	T	18	28045406	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.30945796578933E-5	0.0
18	25625371	C	A	18	28045407	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.24453633365032E-5	0.0
18	25625371	C	G	18	28045407	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.24453633365032E-5	0.0
18	25625371	C	T	18	28045407	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.18508521125715E-5	0.0
18	25625372	T	A	18	28045408	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.70373002829532E-4	0.008
18	25625372	T	C	18	28045408	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.38801286061798E-4	0.006
18	25625372	T	G	18	28045408	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.38801286061798E-4	0.008
18	25625373	A	C	18	28045409	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000418492:exon2:c.19+2T>G)	.	.	1.07902708129146E-4	0.004
18	25625373	A	G	18	28045409	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000418492:exon2:c.19+2T>C)	.	.	1.07902708129146E-4	0.004
18	25625373	A	T	18	28045409	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000418492:exon2:c.19+2T>A)	.	.	1.44101454748109E-4	0.018
18	25625374	C	A	18	28045410	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000418492:exon2:c.19+1G>T)	.	.	5.82683257725706E-5	0.008
18	25625374	C	G	18	28045410	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000418492:exon2:c.19+1G>C)	.	.	5.82683257725706E-5	0.006
18	25625374	C	T	18	28045410	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558(ENST00000418492:exon2:c.19+1G>A)	.	.	5.82683257725706E-5	0.036
18	25625375	T	A	18	28045411	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.A19T:p.M7L;	3.09881628405834E-4	0.012
18	25625375	T	C	18	28045411	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.A19G:p.M7V;	4.92991028756903E-5	0.068
18	25625375	T	G	18	28045411	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.A19C:p.M7L;	3.09881628405834E-4	0.018
18	25625376	C	A	18	28045412	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.G18T:p.R6S;	9.14820824189188E-5	0.002
18	25625376	C	G	18	28045412	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.G18C:p.R6S;	1.30572556194583E-4	0.0
18	25625376	C	T	18	28045412	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.G18A:p.R6R;	6.0174405123738E-5	0.0
18	25625377	C	A	18	28045413	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.G17T:p.R6M;	8.82593501989913E-5	0.004
18	25625377	C	G	18	28045413	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.G17C:p.R6T;	5.0859375701175E-5	0.004
18	25625377	C	T	18	28045413	n	y	intronic	CDH2	.	.	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000418492:exon1:c.G17A:p.R6K;	1.44914849052477E-5	0.006
18	25677019	T	A	18	28097055	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.59706358747764E-5	0.0
18	25677019	T	C	18	28097055	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.97728621093963E-5	0.0
18	25677019	T	G	18	28097055	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.59706358747764E-5	0.0
18	25677020	C	A	18	28097056	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.89210916601576E-5	0.0
18	25677020	C	G	18	28097056	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.89210916601576E-5	0.0
18	25677020	C	T	18	28097056	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.89210916601576E-5	0.0
18	25677021	T	A	18	28097057	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.03610275064343E-4	0.054
18	25677021	T	C	18	28097057	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.00770613571912E-5	0.054
18	25677021	T	G	18	28097057	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.00770613571912E-5	0.054
18	25677022	C	A	18	28097058	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.02642503822698E-5	0.012
18	25677022	C	G	18	28097058	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.02642503822698E-5	0.012
18	25677022	C	T	18	28097058	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.02642503822698E-5	0.012
18	25677023	C	A	18	28097059	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.27456659313109E-5	0.0
18	25677023	C	G	18	28097059	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.27456659313109E-5	0.0
18	25677023	C	T	18	28097059	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.27456659313109E-5	0.0
18	25677024	T	A	18	28097060	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.25524929795369E-5	0.0
18	25677024	T	C	18	28097060	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.25524929795369E-5	0.0
18	25677024	T	G	18	28097060	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.25524929795369E-5	0.0
18	25677025	A	C	18	28097061	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	1.63709697066248E-5	0.002
18	25677025	A	G	18	28097061	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	1.63709697066248E-5	0.002
18	25677025	A	T	18	28097061	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	1.63709697066248E-5	0.002
18	25677026	C	A	18	28097062	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	3.57076726553018E-5	0.0
18	25677026	C	G	18	28097062	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	3.57076726553018E-5	0.0
18	25677026	C	T	18	28097062	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	3.69930370103191E-5	0.0
18	25677027	C	A	18	28097063	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	7.18924664478357E-5	0.004
18	25677027	C	G	18	28097063	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	7.18924664478357E-5	0.0
18	25677027	C	T	18	28097063	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	7.18924664478357E-5	0.0
18	25677028	T	A	18	28097064	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	5.33785764589345E-5	0.0
18	25677028	T	C	18	28097064	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	1.98902375906994E-5	0.0
18	25677028	T	G	18	28097064	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	1.98902375906994E-5	0.0
18	25677029	C	A	18	28097065	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	6.5908222467397E-5	0.008
18	25677029	C	G	18	28097065	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	3.88563338073588E-5	0.008
18	25677029	C	T	18	28097065	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	6.5908222467397E-5	0.008
18	25727629	G	A	18	28147665	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00549156986970667	0.078
18	25727629	G	C	18	28147665	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0104289089033114	0.17
18	25727629	G	T	18	28147665	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0104289089033114	0.17
18	25727630	A	C	18	28147666	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.04779846252554E-4	0.0
18	25727630	A	G	18	28147666	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.63726705890162E-4	0.002
18	25727630	A	T	18	28147666	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.61198242792406E-4	0.114
18	25727631	T	A	18	28147667	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.63511910122813E-5	0.03
18	25727631	T	C	18	28147667	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.23006147754853E-5	0.058
18	25727631	T	G	18	28147667	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.01837607079526E-4	0.048
18	25727632	A	C	18	28147668	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.52192367938006E-4	0.108
18	25727632	A	G	18	28147668	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.65752517198366E-5	0.004
18	25727632	A	T	18	28147668	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.31462831642813E-4	0.042
18	25727633	G	A	18	28147669	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00123160651433015	0.114
18	25727633	G	C	18	28147669	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.201963532367832	0.214
18	25727633	G	T	18	28147669	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.20212663423655E-4	0.174
18	25727634	T	A	18	28147670	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99995893560094	0.988
18	25727634	T	C	18	28147670	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999849266482621	0.934
18	25727634	T	G	18	28147670	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999901729727003	0.982
18	25727635	A	C	18	28147671	y	y	splicing	CDH2(NM_001792:exon3:c.172+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.172+2T>G)	.	.	0.999986741007567	0.946
18	25727635	A	G	18	28147671	y	y	splicing	CDH2(NM_001792:exon3:c.172+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.172+2T>C)	.	.	0.999889519009798	0.88
18	25727635	A	T	18	28147671	y	y	splicing	CDH2(NM_001792:exon3:c.172+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.172+2T>A)	.	.	0.999986741007567	0.946
18	25727636	C	A	18	28147672	y	y	splicing	CDH2(NM_001792:exon3:c.172+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.172+1G>T)	.	.	0.999989125585301	0.944
18	25727636	C	G	18	28147672	y	y	splicing	CDH2(NM_001792:exon3:c.172+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.172+1G>C)	.	.	0.999989125585301	0.944
18	25727636	C	T	18	28147672	y	y	splicing	CDH2(NM_001792:exon3:c.172+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.172+1G>A)	.	.	0.999989125585301	0.944
18	25727637	C	A	18	28147673	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.G172T:p.V58L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.G172T:p.V58L;	0.999990885943374	0.988
18	25727637	C	G	18	28147673	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.G172C:p.V58L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.G172C:p.V58L;	0.999995179635683	0.988
18	25727637	C	T	18	28147673	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.G172A:p.V58M;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.G172A:p.V58M;	0.999993232597644	1.0
18	25727638	A	C	18	28147674	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.T171G:p.N57K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.T171G:p.N57K;	4.9020767170593E-4	0.086
18	25727638	A	G	18	28147674	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon2:c.T171C:p.N57N;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.T171C:p.N57N;	0.00529524256752532	0.186
18	25727638	A	T	18	28147674	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.T171A:p.N57K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.T171A:p.N57K;	7.00553174763791E-4	0.262
18	25727639	T	A	18	28147675	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.A170T:p.N57I;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.A170T:p.N57I;	0.965792498947942	0.704
18	25727639	T	C	18	28147675	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.A170G:p.N57S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.A170G:p.N57S;	0.0511060920824743	0.246
18	25727639	T	G	18	28147675	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.A170C:p.N57T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.A170C:p.N57T;	1.10182161593032E-4	0.016
18	25727747	G	A	18	28147783	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.C62T:p.A21V;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.C62T:p.A21V;	0.00168048447709473	0.02
18	25727747	G	C	18	28147783	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.C62G:p.A21G;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.C62G:p.A21G;	0.0023336410597615	0.064
18	25727747	G	T	18	28147783	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.C62A:p.A21E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.C62A:p.A21E;	0.0059398932435649	0.044
18	25727748	C	A	18	28147784	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.G61T:p.A21S;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.G61T:p.A21S;	0.999392590292445	0.944
18	25727748	C	G	18	28147784	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.G61C:p.A21P;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.G61C:p.A21P;	0.999211919048682	0.89
18	25727748	C	T	18	28147784	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon2:c.G61A:p.A21T;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon2:c.G61A:p.A21T;	0.999231473007083	0.786
18	25727749	C	A	18	28147785	y	y	splicing	CDH2(NM_001792:exon3:c.61-1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.61-1G>T)	.	.	0.999990361384395	0.936
18	25727749	C	G	18	28147785	y	y	splicing	CDH2(NM_001792:exon3:c.61-1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.61-1G>C)	.	.	0.999990361384395	0.936
18	25727749	C	T	18	28147785	y	y	splicing	CDH2(NM_001792:exon3:c.61-1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.61-1G>A)	.	.	0.999990361384395	0.936
18	25727750	T	A	18	28147786	y	y	splicing	CDH2(NM_001792:exon3:c.61-2A>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.61-2A>T)	.	.	0.999988247793601	0.928
18	25727750	T	C	18	28147786	y	y	splicing	CDH2(NM_001792:exon3:c.61-2A>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.61-2A>G)	.	.	0.999988247793601	0.928
18	25727750	T	G	18	28147786	y	y	splicing	CDH2(NM_001792:exon3:c.61-2A>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon3:c.61-2A>C)	.	.	0.999988247793601	0.928
18	25727751	G	A	18	28147787	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.229175099856441	0.264
18	25727751	G	C	18	28147787	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999884616775429	0.916
18	25727751	G	T	18	28147787	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.997376775269938	0.784
18	25727752	C	A	18	28147788	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.30351281785799E-4	0.004
18	25727752	C	G	18	28147788	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.1560936057096E-4	0.006
18	25727752	C	T	18	28147788	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.92687622379998E-4	0.022
18	25727753	A	C	18	28147789	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.681856881924019	0.662
18	25727753	A	G	18	28147789	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00312289210977452	0.036
18	25727753	A	T	18	28147789	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999720601283534	0.866
18	25727754	A	C	18	28147790	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.983639549736529	0.824
18	25727754	A	G	18	28147790	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0173740578850135	0.178
18	25727754	A	T	18	28147790	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.986254098979197	0.86
18	25727755	C	A	18	28147791	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.28004613504658E-4	0.0
18	25727755	C	G	18	28147791	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.26682970527042E-4	0.008
18	25727755	C	T	18	28147791	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.51364666171332E-4	0.022
18	25727756	A	C	18	28147792	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.354758188972623	0.424
18	25727756	A	G	18	28147792	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.02734000326619E-4	0.012
18	25727756	A	T	18	28147792	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.999779699519828	0.96
18	25727757	C	A	18	28147793	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.10830512395913E-5	0.0
18	25727757	C	G	18	28147793	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.99158911767365E-5	0.0
18	25727757	C	T	18	28147793	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.1892408912219E-4	0.008
18	25727758	A	C	18	28147794	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.97018852097223	0.79
18	25727758	A	G	18	28147794	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00712889126556018	0.096
18	25727758	A	T	18	28147794	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.9998546391361	0.926
18	25727759	A	C	18	28147795	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0874091084003096	0.474
18	25727759	A	G	18	28147795	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0148564464350684	0.084
18	25727759	A	T	18	28147795	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.330955085156421	0.542
18	25727760	G	A	18	28147796	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.71031268467739E-4	0.002
18	25727760	G	C	18	28147796	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.47247295791187E-4	0.022
18	25727760	G	T	18	28147796	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	7.32489307694365E-4	0.072
18	25739105	A	C	18	28159141	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.89925739660516E-5	0.006
18	25739105	A	G	18	28159141	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.89925739660516E-5	0.006
18	25739105	A	T	18	28159141	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.15941453541388E-5	0.002
18	25739106	A	C	18	28159142	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.77978745885032E-4	0.002
18	25739106	A	G	18	28159142	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.77978745885032E-4	0.002
18	25739106	A	T	18	28159142	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.55787372000163E-4	0.002
18	25739107	A	C	18	28159143	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.82179268262311E-5	0.002
18	25739107	A	G	18	28159143	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.82179268262311E-5	0.002
18	25739107	A	T	18	28159143	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.12877727083204E-5	0.002
18	25739108	C	A	18	28159144	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.08802802279601E-5	0.0
18	25739108	C	G	18	28159144	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	3.78864525412067E-5	0.0
18	25739108	C	T	18	28159144	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.08802802279601E-5	0.004
18	25739109	T	A	18	28159145	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.52086759380612E-5	0.004
18	25739109	T	C	18	28159145	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.52086759380612E-5	0.004
18	25739109	T	G	18	28159145	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	5.52086759380612E-5	0.004
18	25739110	T	A	18	28159146	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.25524929795369E-5	0.0
18	25739110	T	C	18	28159146	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.25524929795369E-5	0.002
18	25739110	T	G	18	28159146	n	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.25524929795369E-5	0.0
18	25739111	A	C	18	28159147	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	2.455930068921E-5	0.002
18	25739111	A	G	18	28159147	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	2.455930068921E-5	0.002
18	25739111	A	T	18	28159147	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	2.455930068921E-5	0.002
18	25739112	C	A	18	28159148	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	5.38912042838133E-5	0.0
18	25739112	C	G	18	28159148	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	5.38912042838133E-5	0.0
18	25739112	C	T	18	28159148	n	y	intronic	CDH2	.	.	splicing	ENSG00000170558	.	.	5.38912042838133E-5	0.0
18	25739113	C	A	18	28159149	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	0.0148371759462779	0.068
18	25739113	C	G	18	28159149	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	0.0114151877386585	0.072
18	25739113	C	T	18	28159149	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	0.0148371759462779	0.066
18	25739114	T	A	18	28159150	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	6.53098918991421E-5	0.0
18	25739114	T	C	18	28159150	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	4.54404724015672E-5	0.0
18	25739114	T	G	18	28159150	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	4.54404724015672E-5	0.0
18	25739115	G	A	18	28159151	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	6.36567682305367E-5	0.006
18	25739115	G	C	18	28159151	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	3.75289494538373E-5	0.006
18	25739115	G	T	18	28159151	n	y	intronic	CDH2	.	.	UTR5	ENSG00000170558	.	.	5.39391423956783E-5	0.006
18	25756919	C	A	18	28176955	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00296019484787257	0.022
18	25756919	C	G	18	28176955	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.0018946794929045	0.018
18	25756919	C	T	18	28176955	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.00253366716458373	0.016
18	25756920	C	A	18	28176956	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	8.89284722637523E-5	0.0
18	25756920	C	G	18	28176956	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.48982468397583E-5	0.002
18	25756920	C	T	18	28176956	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.38158757419381E-5	0.0
18	25756921	G	A	18	28176957	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.14665969090259E-4	0.01
18	25756921	G	C	18	28176957	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	2.80396497481152E-4	0.024
18	25756921	G	T	18	28176957	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	9.93124165778403E-4	0.002
18	25756922	C	A	18	28176958	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.977616175181709	0.642
18	25756922	C	G	18	28176958	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.653268835161693	0.51
18	25756922	C	T	18	28176958	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.96413604233081	0.606
18	25756923	G	A	18	28176959	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	6.46851590781883E-5	0.0
18	25756923	G	C	18	28176959	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	1.29192397849664E-4	0.0
18	25756923	G	T	18	28176959	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	4.12357944238319E-5	0.014
18	25756924	T	A	18	28176960	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.99851986101411	0.92
18	25756924	T	C	18	28176960	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.851775505282627	0.528
18	25756924	T	G	18	28176960	y	y	intronic	CDH2	.	.	intronic	ENSG00000170558	.	.	0.996812837213516	0.892
18	25756925	A	C	18	28176961	y	y	splicing	CDH2(NM_001792:exon2:c.60+2T>G)	.	.	splicing	ENSG00000170558(ENST00000269141:exon2:c.60+2T>G)	.	.	0.999978791067592	0.926
18	25756925	A	G	18	28176961	y	y	splicing	CDH2(NM_001792:exon2:c.60+2T>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon2:c.60+2T>C)	.	.	0.98317218275015	0.594
18	25756925	A	T	18	28176961	y	y	splicing	CDH2(NM_001792:exon2:c.60+2T>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon2:c.60+2T>A)	.	.	0.999991781128047	0.928
18	25756926	C	A	18	28176962	y	y	splicing	CDH2(NM_001792:exon2:c.60+1G>T)	.	.	splicing	ENSG00000170558(ENST00000269141:exon2:c.60+1G>T)	.	.	0.999978278263889	0.928
18	25756926	C	G	18	28176962	y	y	splicing	CDH2(NM_001792:exon2:c.60+1G>C)	.	.	splicing	ENSG00000170558(ENST00000269141:exon2:c.60+1G>C)	.	.	0.999978278263889	0.93
18	25756926	C	T	18	28176962	y	y	splicing	CDH2(NM_001792:exon2:c.60+1G>A)	.	.	splicing	ENSG00000170558(ENST00000269141:exon2:c.60+1G>A)	.	.	0.999978278263889	0.926
18	25756927	C	A	18	28176963	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon1:c.G60T:p.Q20H;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon1:c.G60T:p.Q20H;	0.999971707864233	0.992
18	25756927	C	G	18	28176963	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon1:c.G60C:p.Q20H;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon1:c.G60C:p.Q20H;	0.999989723354731	0.996
18	25756927	C	T	18	28176963	y	y	exonic	CDH2	synonymous SNV	CDH2:NM_001792:exon1:c.G60A:p.Q20Q;	exonic	ENSG00000170558	synonymous SNV	ENSG00000170558:ENST00000269141:exon1:c.G60A:p.Q20Q;	0.99979083313761	0.992
18	25756928	T	A	18	28176964	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon1:c.A59T:p.Q20L;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon1:c.A59T:p.Q20L;	0.997840339002526	0.976
18	25756928	T	C	18	28176964	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon1:c.A59G:p.Q20R;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon1:c.A59G:p.Q20R;	0.999733635777403	0.964
18	25756928	T	G	18	28176964	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon1:c.A59C:p.Q20P;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon1:c.A59C:p.Q20P;	0.996538057854571	0.926
18	25756929	G	A	18	28176965	y	y	exonic	CDH2	stopgain SNV	CDH2:NM_001792:exon1:c.C58T:p.Q20X;	exonic	ENSG00000170558	stopgain SNV	ENSG00000170558:ENST00000269141:exon1:c.C58T:p.Q20X;	0.977198892521243	0.79
18	25756929	G	C	18	28176965	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon1:c.C58G:p.Q20E;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon1:c.C58G:p.Q20E;	0.232007455028914	0.298
18	25756929	G	T	18	28176965	y	y	exonic	CDH2	nonsynonymous SNV	CDH2:NM_001792:exon1:c.C58A:p.Q20K;	exonic	ENSG00000170558	nonsynonymous SNV	ENSG00000170558:ENST00000269141:exon1:c.C58A:p.Q20K;	0.386608843490779	0.588
18	28574337	T	A	18	30994371	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon16:c.A2495T:p.K832I;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon16:c.A2495T:p.K832I;	0.0998623946941853	0.436
18	28574337	T	C	18	30994371	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon16:c.A2495G:p.K832R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon16:c.A2495G:p.K832R;	0.326311686261109	0.482
18	28574337	T	G	18	30994371	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon16:c.A2495C:p.K832T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon16:c.A2495C:p.K832T;	0.0417700463088138	0.428
18	28574338	T	A	18	30994372	y	y	exonic	DSC3	stopgain SNV	DSC3:NM_001941:exon16:c.A2494T:p.K832X;	exonic	ENSG00000134762	stopgain SNV	ENSG00000134762:ENST00000360428:exon16:c.A2494T:p.K832X;	0.47991142072546	0.494
18	28574338	T	C	18	30994372	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon16:c.A2494G:p.K832E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon16:c.A2494G:p.K832E;	6.13980747958864E-4	0.038
18	28574338	T	G	18	30994372	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon16:c.A2494C:p.K832Q;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon16:c.A2494C:p.K832Q;	0.228721862137472	0.354
18	28574339	C	A	18	30994373	y	y	splicing	DSC3(NM_001941:exon17:c.2494-1G>T;NM_024423:exon18:c.2537-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon17:c.2494-1G>T;ENST00000434452:exon18:c.2537-1G>T;ENST00000584980:exon7:c.661-1G>T)	.	.	0.999813583472539	0.818
18	28574339	C	G	18	30994373	y	y	splicing	DSC3(NM_001941:exon17:c.2494-1G>C;NM_024423:exon18:c.2537-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon17:c.2494-1G>C;ENST00000434452:exon18:c.2537-1G>C;ENST00000584980:exon7:c.661-1G>C)	.	.	0.999813583472539	0.826
18	28574339	C	T	18	30994373	y	y	splicing	DSC3(NM_001941:exon17:c.2494-1G>A;NM_024423:exon18:c.2537-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon17:c.2494-1G>A;ENST00000434452:exon18:c.2537-1G>A;ENST00000584980:exon7:c.661-1G>A)	.	.	0.999813583472539	0.808
18	28574340	T	A	18	30994374	y	y	splicing	DSC3(NM_001941:exon17:c.2494-2A>T;NM_024423:exon18:c.2537-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon17:c.2494-2A>T;ENST00000434452:exon18:c.2537-2A>T;ENST00000584980:exon7:c.661-2A>T)	.	.	0.999804983639994	0.802
18	28574340	T	C	18	30994374	y	y	splicing	DSC3(NM_001941:exon17:c.2494-2A>G;NM_024423:exon18:c.2537-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon17:c.2494-2A>G;ENST00000434452:exon18:c.2537-2A>G;ENST00000584980:exon7:c.661-2A>G)	.	.	0.999896042004951	0.796
18	28574340	T	G	18	30994374	y	y	splicing	DSC3(NM_001941:exon17:c.2494-2A>C;NM_024423:exon18:c.2537-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon17:c.2494-2A>C;ENST00000434452:exon18:c.2537-2A>C;ENST00000584980:exon7:c.661-2A>C)	.	.	0.999896042004951	0.802
18	28574341	G	A	18	30994375	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00252622920460445	0.198
18	28574341	G	C	18	30994375	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998803052805065	0.756
18	28574341	G	T	18	30994375	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.979205086046035	0.784
18	28574342	T	A	18	30994376	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.53648040953109E-5	0.116
18	28574342	T	C	18	30994376	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.95646515613045E-5	0.074
18	28574342	T	G	18	30994376	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.88237979192469E-5	0.156
18	28574343	A	C	18	30994377	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.223039914749842	0.46
18	28574343	A	G	18	30994377	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.86166855794237E-5	0.072
18	28574343	A	T	18	30994377	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0559791780425547	0.414
18	28574344	A	C	18	30994378	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.395959484705928	0.586
18	28574344	A	G	18	30994378	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.97453243818821E-4	0.058
18	28574344	A	T	18	30994378	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.461890518749672	0.586
18	28574345	A	C	18	30994379	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0305487990820629	0.334
18	28574345	A	G	18	30994379	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.00884081689918E-5	0.018
18	28574345	A	T	18	30994379	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0305487990820629	0.31
18	28574346	A	C	18	30994380	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.900837780064276	0.474
18	28574346	A	G	18	30994380	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.33700720649247E-5	0.094
18	28574346	A	T	18	30994380	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00243175887099703	0.206
18	28574347	T	A	18	30994381	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.70333525653229E-5	0.072
18	28574347	T	C	18	30994381	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.984878702354695	0.582
18	28574347	T	G	18	30994381	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.4658464619016E-5	0.106
18	28574348	T	A	18	30994382	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.94115947816184E-5	0.084
18	28574348	T	C	18	30994382	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.992335024278583	0.568
18	28574348	T	G	18	30994382	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.65750119624426E-5	0.206
18	28574349	T	A	18	30994383	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.27229466373324E-5	0.048
18	28574349	T	C	18	30994383	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.566367476575069	0.432
18	28574349	T	G	18	30994383	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.47607259891041E-5	0.096
18	28574350	T	A	18	30994384	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.47971331106512E-5	0.274
18	28574350	T	C	18	30994384	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.993881246556082	0.648
18	28574350	T	G	18	30994384	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.71196633211547E-5	0.152
18	28574412	T	A	18	30994446	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00134342297689205	0.002
18	28574412	T	C	18	30994446	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00148064017485651	0.002
18	28574412	T	G	18	30994446	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00148064017485651	0.002
18	28574413	T	A	18	30994447	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0114247642213476	0.032
18	28574413	T	C	18	30994447	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0114247642213476	0.032
18	28574413	T	G	18	30994447	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0114247642213476	0.032
18	28574414	A	C	18	30994448	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.06
18	28574414	A	G	18	30994448	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.054
18	28574414	A	T	18	30994448	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0284844574534807	0.148
18	28574415	T	A	18	30994449	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.11
18	28574415	T	C	18	30994449	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0176131729356612	0.04
18	28574415	T	G	18	30994449	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.04
18	28574416	T	A	18	30994450	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0284844574534807	0.138
18	28574416	T	C	18	30994450	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.04
18	28574416	T	G	18	30994450	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.04
18	28574417	T	A	18	30994451	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0284844574534807	0.132
18	28574417	T	C	18	30994451	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0176131729356612	0.04
18	28574417	T	G	18	30994451	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.04
18	28574418	A	C	18	30994452	y	y	splicing	DSC3(NM_024423:exon17:c.2536+2T>G)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2536+2T>G;ENST00000584980:exon6:c.660+2T>G)	.	.	0.782610249674871	0.7
18	28574418	A	G	18	30994452	y	y	splicing	DSC3(NM_024423:exon17:c.2536+2T>C)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2536+2T>C;ENST00000584980:exon6:c.660+2T>C)	.	.	0.782610249674871	0.7
18	28574418	A	T	18	30994452	y	y	splicing	DSC3(NM_024423:exon17:c.2536+2T>A)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2536+2T>A;ENST00000584980:exon6:c.660+2T>A)	.	.	0.782610249674871	0.692
18	28574419	C	A	18	30994453	y	y	splicing	DSC3(NM_024423:exon17:c.2536+1G>T)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2536+1G>T;ENST00000584980:exon6:c.660+1G>T)	.	.	0.985954147223988	0.854
18	28574419	C	G	18	30994453	y	y	splicing	DSC3(NM_024423:exon17:c.2536+1G>C)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2536+1G>C;ENST00000584980:exon6:c.660+1G>C)	.	.	0.985954147223988	0.854
18	28574419	C	T	18	30994453	y	y	splicing	DSC3(NM_024423:exon17:c.2536+1G>A)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2536+1G>A;ENST00000584980:exon6:c.660+1G>A)	.	.	0.985954147223988	0.854
18	28574420	C	A	18	30994454	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0267275074045045	0.058
18	28574420	C	G	18	30994454	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0173934650022037	0.044
18	28574420	C	T	18	30994454	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0360394046134057	0.07
18	28574421	T	A	18	30994455	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0282747499911102	0.184
18	28574421	T	C	18	30994455	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0284844574534807	0.132
18	28574421	T	G	18	30994455	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0284844574534807	0.138
18	28574422	T	A	18	30994456	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0302528160351271	0.19
18	28574422	T	C	18	30994456	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0284844574534807	0.138
18	28574422	T	G	18	30994456	y	y	UTR3	DSC3	.	.	UTR3	ENSG00000134762	.	.	0.0284844574534807	0.144
18	28574461	T	A	18	30994495	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_024423:exon16:c.A2495T:p.E832V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000434452:exon16:c.A2495T:p.E832V;	0.00640936610638021	0.03
18	28574461	T	C	18	30994495	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_024423:exon16:c.A2495G:p.E832G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000434452:exon16:c.A2495G:p.E832G;	0.00640936610638021	0.036
18	28574461	T	G	18	30994495	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_024423:exon16:c.A2495C:p.E832A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000434452:exon16:c.A2495C:p.E832A;	0.00640936610638021	0.03
18	28574462	C	A	18	30994496	y	y	exonic	DSC3	stopgain SNV	DSC3:NM_024423:exon16:c.G2494T:p.E832X;	exonic	ENSG00000134762	stopgain SNV	ENSG00000134762:ENST00000434452:exon16:c.G2494T:p.E832X;	0.988841467419938	0.884
18	28574462	C	G	18	30994496	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_024423:exon16:c.G2494C:p.E832Q;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000434452:exon16:c.G2494C:p.E832Q;	0.0167004328132565	0.038
18	28574462	C	T	18	30994496	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_024423:exon16:c.G2494A:p.E832K;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000434452:exon16:c.G2494A:p.E832K;	0.0774616253741146	0.234
18	28574463	C	A	18	30994497	y	y	splicing	DSC3(NM_024423:exon17:c.2494-1G>T)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2494-1G>T;ENST00000584980:exon6:c.618-1G>T)	.	.	0.985954147223988	0.854
18	28574463	C	G	18	30994497	y	y	splicing	DSC3(NM_024423:exon17:c.2494-1G>C)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2494-1G>C;ENST00000584980:exon6:c.618-1G>C)	.	.	0.985954147223988	0.86
18	28574463	C	T	18	30994497	y	y	splicing	DSC3(NM_024423:exon17:c.2494-1G>A)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2494-1G>A;ENST00000584980:exon6:c.618-1G>A)	.	.	0.985954147223988	0.854
18	28574464	T	A	18	30994498	y	y	splicing	DSC3(NM_024423:exon17:c.2494-2A>T)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2494-2A>T;ENST00000584980:exon6:c.618-2A>T)	.	.	0.782610249674871	0.696
18	28574464	T	C	18	30994498	y	y	splicing	DSC3(NM_024423:exon17:c.2494-2A>G)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2494-2A>G;ENST00000584980:exon6:c.618-2A>G)	.	.	0.782610249674871	0.704
18	28574464	T	G	18	30994498	y	y	splicing	DSC3(NM_024423:exon17:c.2494-2A>C)	.	.	splicing	ENSG00000134762(ENST00000434452:exon17:c.2494-2A>C;ENST00000584980:exon6:c.618-2A>C)	.	.	0.782610249674871	0.704
18	28574465	A	C	18	30994499	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0114247642213476	0.032
18	28574465	A	G	18	30994499	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0114247642213476	0.032
18	28574465	A	T	18	30994499	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.04
18	28574466	C	A	18	30994500	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0015557060732357	0.008
18	28574466	C	G	18	30994500	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0015557060732357	0.022
18	28574466	C	T	18	30994500	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00219290316122973	0.024
18	28574467	A	C	18	30994501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00122913998718321	0.0
18	28574467	A	G	18	30994501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00122913998718321	0.0
18	28574467	A	T	18	30994501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00127265193793032	0.0
18	28574468	C	A	18	30994502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.8703588275862E-4	0.002
18	28574468	C	G	18	30994502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.8703588275862E-4	0.004
18	28574468	C	T	18	30994502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.31043779912406E-4	0.004
18	28574469	A	C	18	30994503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0176131729356612	0.032
18	28574469	A	G	18	30994503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0176131729356612	0.034
18	28574469	A	T	18	30994503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0238273648531443	0.076
18	28574470	C	A	18	30994504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0097837775082716	0.036
18	28574470	C	G	18	30994504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0097837775082716	0.03
18	28574470	C	T	18	30994504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0097837775082716	0.054
18	28574471	A	C	18	30994505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.782610249674871	0.694
18	28574471	A	G	18	30994505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.782610249674871	0.694
18	28574471	A	T	18	30994505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.782610249674871	0.672
18	28574472	G	A	18	30994506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.3675102172491E-4	0.076
18	28574472	G	C	18	30994506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.3675102172491E-4	0.104
18	28574472	G	T	18	30994506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.3675102172491E-4	0.096
18	28574473	A	C	18	30994507	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.782101904316939	0.674
18	28574473	A	G	18	30994507	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.782101904316939	0.674
18	28574473	A	T	18	30994507	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.830591134996937	0.728
18	28574474	A	C	18	30994508	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.782101904316939	0.676
18	28574474	A	G	18	30994508	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.782101904316939	0.676
18	28574474	A	T	18	30994508	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.855381842544464	0.698
18	28576749	A	C	18	30996783	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.06749450795734E-4	0.034
18	28576749	A	G	18	30996783	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.48495521582403E-4	0.098
18	28576749	A	T	18	30996783	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.06749450795734E-4	0.014
18	28576750	A	C	18	30996784	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00113738664080147	0.004
18	28576750	A	G	18	30996784	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00113738664080147	0.004
18	28576750	A	T	18	30996784	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.00889145018076E-4	0.006
18	28576751	A	C	18	30996785	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.993347229401487	0.944
18	28576751	A	G	18	30996785	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.997877585182923	0.928
18	28576751	A	T	18	30996785	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998136871463729	0.892
18	28576752	C	A	18	30996786	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999951634734498	0.994
18	28576752	C	G	18	30996786	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999876349622092	0.978
18	28576752	C	T	18	30996786	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999933099810108	0.996
18	28576753	T	A	18	30996787	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999508909044323	0.968
18	28576753	T	C	18	30996787	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999472914563999	0.992
18	28576753	T	G	18	30996787	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.997976821934102	0.966
18	28576754	C	A	18	30996788	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.988966630959206	0.692
18	28576754	C	G	18	30996788	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998901363945002	0.74
18	28576754	C	T	18	30996788	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.08256327066481E-4	0.006
18	28576755	A	C	18	30996789	y	y	splicing	DSC3(NM_001941:exon16:c.2493+2T>G;NM_024423:exon16:c.2493+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2493+2T>G;ENST00000434452:exon16:c.2493+2T>G;ENST00000584980:exon5:c.617+2T>G)	.	.	0.999989917668626	0.924
18	28576755	A	G	18	30996789	y	y	splicing	DSC3(NM_001941:exon16:c.2493+2T>C;NM_024423:exon16:c.2493+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2493+2T>C;ENST00000434452:exon16:c.2493+2T>C;ENST00000584980:exon5:c.617+2T>C)	.	.	0.999939711763648	0.858
18	28576755	A	T	18	30996789	y	y	splicing	DSC3(NM_001941:exon16:c.2493+2T>A;NM_024423:exon16:c.2493+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2493+2T>A;ENST00000434452:exon16:c.2493+2T>A;ENST00000584980:exon5:c.617+2T>A)	.	.	0.999989917668626	0.926
18	28576756	C	A	18	30996790	y	y	splicing	DSC3(NM_001941:exon16:c.2493+1G>T;NM_024423:exon16:c.2493+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2493+1G>T;ENST00000434452:exon16:c.2493+1G>T;ENST00000584980:exon5:c.617+1G>T)	.	.	0.999981760802075	0.944
18	28576756	C	G	18	30996790	y	y	splicing	DSC3(NM_001941:exon16:c.2493+1G>C;NM_024423:exon16:c.2493+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2493+1G>C;ENST00000434452:exon16:c.2493+1G>C;ENST00000584980:exon5:c.617+1G>C)	.	.	0.999981760802075	0.942
18	28576756	C	T	18	30996790	y	y	splicing	DSC3(NM_001941:exon16:c.2493+1G>A;NM_024423:exon16:c.2493+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2493+1G>A;ENST00000434452:exon16:c.2493+1G>A;ENST00000584980:exon5:c.617+1G>A)	.	.	0.999981760802075	0.944
18	28576757	T	A	18	30996791	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.A2493T:p.E831D;DSC3:NM_024423:exon15:c.A2493T:p.E831D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.A2493T:p.E831D;ENSG00000134762:ENST00000434452:exon15:c.A2493T:p.E831D;	9.92433305753837E-4	0.054
18	28576757	T	C	18	30996791	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon15:c.A2493G:p.E831E;DSC3:NM_024423:exon15:c.A2493G:p.E831E;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.A2493G:p.E831E;ENSG00000134762:ENST00000434452:exon15:c.A2493G:p.E831E;	1.14721748498053E-4	0.01
18	28576757	T	G	18	30996791	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.A2493C:p.E831D;DSC3:NM_024423:exon15:c.A2493C:p.E831D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.A2493C:p.E831D;ENSG00000134762:ENST00000434452:exon15:c.A2493C:p.E831D;	1.94421169022334E-4	0.12
18	28576758	T	A	18	30996792	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.A2492T:p.E831V;DSC3:NM_024423:exon15:c.A2492T:p.E831V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.A2492T:p.E831V;ENSG00000134762:ENST00000434452:exon15:c.A2492T:p.E831V;	0.99710078028923	0.926
18	28576758	T	C	18	30996792	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.A2492G:p.E831G;DSC3:NM_024423:exon15:c.A2492G:p.E831G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.A2492G:p.E831G;ENSG00000134762:ENST00000434452:exon15:c.A2492G:p.E831G;	0.995763819677681	0.87
18	28576758	T	G	18	30996792	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.A2492C:p.E831A;DSC3:NM_024423:exon15:c.A2492C:p.E831A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.A2492C:p.E831A;ENSG00000134762:ENST00000434452:exon15:c.A2492C:p.E831A;	0.966259545594661	0.84
18	28576759	C	A	18	30996793	y	y	exonic	DSC3	stopgain SNV	DSC3:NM_001941:exon15:c.G2491T:p.E831X;DSC3:NM_024423:exon15:c.G2491T:p.E831X;	exonic	ENSG00000134762	stopgain SNV	ENSG00000134762:ENST00000360428:exon15:c.G2491T:p.E831X;ENSG00000134762:ENST00000434452:exon15:c.G2491T:p.E831X;	0.969615291825237	0.818
18	28576759	C	G	18	30996793	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.G2491C:p.E831Q;DSC3:NM_024423:exon15:c.G2491C:p.E831Q;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.G2491C:p.E831Q;ENSG00000134762:ENST00000434452:exon15:c.G2491C:p.E831Q;	0.00456664827596205	0.038
18	28576759	C	T	18	30996793	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.G2491A:p.E831K;DSC3:NM_024423:exon15:c.G2491A:p.E831K;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.G2491A:p.E831K;ENSG00000134762:ENST00000434452:exon15:c.G2491A:p.E831K;	0.304996281065547	0.416
18	28577013	C	A	18	30997047	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.G2237T:p.C746F;DSC3:NM_024423:exon15:c.G2237T:p.C746F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.G2237T:p.C746F;ENSG00000134762:ENST00000434452:exon15:c.G2237T:p.C746F;	0.00307670384019354	0.03
18	28577013	C	G	18	30997047	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.G2237C:p.C746S;DSC3:NM_024423:exon15:c.G2237C:p.C746S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.G2237C:p.C746S;ENSG00000134762:ENST00000434452:exon15:c.G2237C:p.C746S;	0.0020044059905144	0.06
18	28577013	C	T	18	30997047	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.G2237A:p.C746Y;DSC3:NM_024423:exon15:c.G2237A:p.C746Y;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.G2237A:p.C746Y;ENSG00000134762:ENST00000434452:exon15:c.G2237A:p.C746Y;	0.0014996127898673	0.148
18	28577014	A	C	18	30997048	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.T2236G:p.C746G;DSC3:NM_024423:exon15:c.T2236G:p.C746G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.T2236G:p.C746G;ENSG00000134762:ENST00000434452:exon15:c.T2236G:p.C746G;	0.00232703555556462	0.048
18	28577014	A	G	18	30997048	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.T2236C:p.C746R;DSC3:NM_024423:exon15:c.T2236C:p.C746R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.T2236C:p.C746R;ENSG00000134762:ENST00000434452:exon15:c.T2236C:p.C746R;	0.0033492141333601	0.034
18	28577014	A	T	18	30997048	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon15:c.T2236A:p.C746S;DSC3:NM_024423:exon15:c.T2236A:p.C746S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon15:c.T2236A:p.C746S;ENSG00000134762:ENST00000434452:exon15:c.T2236A:p.C746S;	0.00140564943212607	0.01
18	28577015	C	A	18	30997049	y	y	splicing	DSC3(NM_001941:exon16:c.2236-1G>T;NM_024423:exon16:c.2236-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2236-1G>T;ENST00000434452:exon16:c.2236-1G>T;ENST00000584980:exon5:c.360-1G>T)	.	.	0.999967335026411	0.944
18	28577015	C	G	18	30997049	y	y	splicing	DSC3(NM_001941:exon16:c.2236-1G>C;NM_024423:exon16:c.2236-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2236-1G>C;ENST00000434452:exon16:c.2236-1G>C;ENST00000584980:exon5:c.360-1G>C)	.	.	0.999967335026411	0.944
18	28577015	C	T	18	30997049	y	y	splicing	DSC3(NM_001941:exon16:c.2236-1G>A;NM_024423:exon16:c.2236-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2236-1G>A;ENST00000434452:exon16:c.2236-1G>A;ENST00000584980:exon5:c.360-1G>A)	.	.	0.999981760802075	0.944
18	28577016	T	A	18	30997050	y	y	splicing	DSC3(NM_001941:exon16:c.2236-2A>T;NM_024423:exon16:c.2236-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2236-2A>T;ENST00000434452:exon16:c.2236-2A>T;ENST00000584980:exon5:c.360-2A>T)	.	.	0.999989917668626	0.926
18	28577016	T	C	18	30997050	y	y	splicing	DSC3(NM_001941:exon16:c.2236-2A>G;NM_024423:exon16:c.2236-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2236-2A>G;ENST00000434452:exon16:c.2236-2A>G;ENST00000584980:exon5:c.360-2A>G)	.	.	0.999989917668626	0.926
18	28577016	T	G	18	30997050	y	y	splicing	DSC3(NM_001941:exon16:c.2236-2A>C;NM_024423:exon16:c.2236-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon16:c.2236-2A>C;ENST00000434452:exon16:c.2236-2A>C;ENST00000584980:exon5:c.360-2A>C)	.	.	0.999989917668626	0.926
18	28577017	G	A	18	30997051	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00147681586346223	0.024
18	28577017	G	C	18	30997051	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999790563401082	0.902
18	28577017	G	T	18	30997051	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.807463250278079	0.56
18	28577018	A	C	18	30997052	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00287839478208138	0.076
18	28577018	A	G	18	30997052	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.99845755294812E-4	0.012
18	28577018	A	T	18	30997052	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.90263137561913E-4	0.054
18	28577019	A	C	18	30997053	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.973813265814171	0.596
18	28577019	A	G	18	30997053	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0633227049221452	0.122
18	28577019	A	T	18	30997053	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.918028059546196	0.614
18	28577020	A	C	18	30997054	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999938974469911	0.968
18	28577020	A	G	18	30997054	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.57529180234232E-4	0.05
18	28577020	A	T	18	30997054	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.589777536523698	0.49
18	28577021	T	A	18	30997055	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.30682904907474E-5	0.0
18	28577021	T	C	18	30997055	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.7554885356855E-5	0.0
18	28577021	T	G	18	30997055	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.30682904907474E-5	0.0
18	28577022	A	C	18	30997056	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0064387371996031	0.192
18	28577022	A	G	18	30997056	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.00533700967714E-5	0.002
18	28577022	A	T	18	30997056	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0133040095280327	0.178
18	28577023	A	C	18	30997057	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999934475227635	0.958
18	28577023	A	G	18	30997057	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0291192071112858	0.254
18	28577023	A	T	18	30997057	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.978517518320274	0.696
18	28577024	T	A	18	30997058	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.72839813796158E-5	0.006
18	28577024	T	C	18	30997058	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.48933318708235E-4	0.014
18	28577024	T	G	18	30997058	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.60403530358442E-5	0.004
18	28577025	A	C	18	30997059	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.881774806363539	0.64
18	28577025	A	G	18	30997059	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0437455511168893	0.156
18	28577025	A	T	18	30997059	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.814203960314085	0.662
18	28577026	A	C	18	30997060	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0284157238412584	0.372
18	28577026	A	G	18	30997060	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.06168911703802E-4	0.0
18	28577026	A	T	18	30997060	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.036657292218079	0.368
18	28581576	T	A	18	31001610	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.88014054966508E-5	0.002
18	28581576	T	C	18	31001610	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.64821054669106E-5	0.0
18	28581576	T	G	18	31001610	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.88014054966508E-5	0.006
18	28581577	T	A	18	31001611	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.41215694109E-6	0.0
18	28581577	T	C	18	31001611	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.09337574150394E-6	0.0
18	28581577	T	G	18	31001611	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.55668644741487E-6	0.0
18	28581578	A	C	18	31001612	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0448927408738299	0.308
18	28581578	A	G	18	31001612	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.341033348213402	0.5
18	28581578	A	T	18	31001612	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.346931120838277	0.424
18	28581579	C	A	18	31001613	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998320052910205	0.884
18	28581579	C	G	18	31001613	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.997154797043031	0.856
18	28581579	C	T	18	31001613	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998245434986774	0.902
18	28581580	T	A	18	31001614	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.603217701472774	0.572
18	28581580	T	C	18	31001614	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.957879569355771	0.632
18	28581580	T	G	18	31001614	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.708035724203846	0.522
18	28581581	T	A	18	31001615	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.950244371335698	0.61
18	28581581	T	C	18	31001615	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00299586503195528	0.058
18	28581581	T	G	18	31001615	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.992288135509326	0.75
18	28581582	A	C	18	31001616	y	y	splicing	DSC3(NM_001941:exon15:c.2235+2T>G;NM_024423:exon15:c.2235+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2235+2T>G;ENST00000434452:exon15:c.2235+2T>G;ENST00000584980:exon4:c.359+2T>G)	.	.	0.999989917668626	0.924
18	28581582	A	G	18	31001616	y	y	splicing	DSC3(NM_001941:exon15:c.2235+2T>C;NM_024423:exon15:c.2235+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2235+2T>C;ENST00000434452:exon15:c.2235+2T>C;ENST00000584980:exon4:c.359+2T>C)	.	.	0.986528855787127	0.604
18	28581582	A	T	18	31001616	y	y	splicing	DSC3(NM_001941:exon15:c.2235+2T>A;NM_024423:exon15:c.2235+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2235+2T>A;ENST00000434452:exon15:c.2235+2T>A;ENST00000584980:exon4:c.359+2T>A)	.	.	0.999989917668626	0.924
18	28581583	C	A	18	31001617	y	y	splicing	DSC3(NM_001941:exon15:c.2235+1G>T;NM_024423:exon15:c.2235+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2235+1G>T;ENST00000434452:exon15:c.2235+1G>T;ENST00000584980:exon4:c.359+1G>T)	.	.	0.999986675681007	0.922
18	28581583	C	G	18	31001617	y	y	splicing	DSC3(NM_001941:exon15:c.2235+1G>C;NM_024423:exon15:c.2235+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2235+1G>C;ENST00000434452:exon15:c.2235+1G>C;ENST00000584980:exon4:c.359+1G>C)	.	.	0.999986675681007	0.926
18	28581583	C	T	18	31001617	y	y	splicing	DSC3(NM_001941:exon15:c.2235+1G>A;NM_024423:exon15:c.2235+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2235+1G>A;ENST00000434452:exon15:c.2235+1G>A;ENST00000584980:exon4:c.359+1G>A)	.	.	0.999986675681007	0.926
18	28581584	C	A	18	31001618	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon14:c.G2235T:p.V745V;DSC3:NM_024423:exon14:c.G2235T:p.V745V;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.G2235T:p.V745V;ENSG00000134762:ENST00000434452:exon14:c.G2235T:p.V745V;	0.974228250587623	0.768
18	28581584	C	G	18	31001618	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon14:c.G2235C:p.V745V;DSC3:NM_024423:exon14:c.G2235C:p.V745V;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.G2235C:p.V745V;ENSG00000134762:ENST00000434452:exon14:c.G2235C:p.V745V;	0.965370785687298	0.778
18	28581584	C	T	18	31001618	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon14:c.G2235A:p.V745V;DSC3:NM_024423:exon14:c.G2235A:p.V745V;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.G2235A:p.V745V;ENSG00000134762:ENST00000434452:exon14:c.G2235A:p.V745V;	0.988334849478224	0.906
18	28581585	A	C	18	31001619	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.T2234G:p.V745G;DSC3:NM_024423:exon14:c.T2234G:p.V745G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.T2234G:p.V745G;ENSG00000134762:ENST00000434452:exon14:c.T2234G:p.V745G;	0.0176377091989074	0.232
18	28581585	A	G	18	31001619	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.T2234C:p.V745A;DSC3:NM_024423:exon14:c.T2234C:p.V745A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.T2234C:p.V745A;ENSG00000134762:ENST00000434452:exon14:c.T2234C:p.V745A;	0.0063072980347021	0.118
18	28581585	A	T	18	31001619	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.T2234A:p.V745E;DSC3:NM_024423:exon14:c.T2234A:p.V745E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.T2234A:p.V745E;ENSG00000134762:ENST00000434452:exon14:c.T2234A:p.V745E;	0.00372891270402888	0.082
18	28581586	C	A	18	31001620	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.G2233T:p.V745L;DSC3:NM_024423:exon14:c.G2233T:p.V745L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.G2233T:p.V745L;ENSG00000134762:ENST00000434452:exon14:c.G2233T:p.V745L;	0.00143711885196471	0.08
18	28581586	C	G	18	31001620	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.G2233C:p.V745L;DSC3:NM_024423:exon14:c.G2233C:p.V745L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.G2233C:p.V745L;ENSG00000134762:ENST00000434452:exon14:c.G2233C:p.V745L;	2.46157782118524E-4	0.0
18	28581586	C	T	18	31001620	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.G2233A:p.V745M;DSC3:NM_024423:exon14:c.G2233A:p.V745M;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.G2233A:p.V745M;ENSG00000134762:ENST00000434452:exon14:c.G2233A:p.V745M;	1.91845692987623E-4	0.0
18	28581704	A	C	18	31001738	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon14:c.T2115G:p.S705S;DSC3:NM_024423:exon14:c.T2115G:p.S705S;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.T2115G:p.S705S;ENSG00000134762:ENST00000434452:exon14:c.T2115G:p.S705S;	0.0142224932789282	0.212
18	28581704	A	G	18	31001738	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon14:c.T2115C:p.S705S;DSC3:NM_024423:exon14:c.T2115C:p.S705S;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.T2115C:p.S705S;ENSG00000134762:ENST00000434452:exon14:c.T2115C:p.S705S;	0.00455359849024589	0.174
18	28581704	A	T	18	31001738	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon14:c.T2115A:p.S705S;DSC3:NM_024423:exon14:c.T2115A:p.S705S;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.T2115A:p.S705S;ENSG00000134762:ENST00000434452:exon14:c.T2115A:p.S705S;	0.00534979090735014	0.116
18	28581705	G	A	18	31001739	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.C2114T:p.S705F;DSC3:NM_024423:exon14:c.C2114T:p.S705F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.C2114T:p.S705F;ENSG00000134762:ENST00000434452:exon14:c.C2114T:p.S705F;	0.00267684594981901	0.11
18	28581705	G	C	18	31001739	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.C2114G:p.S705C;DSC3:NM_024423:exon14:c.C2114G:p.S705C;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.C2114G:p.S705C;ENSG00000134762:ENST00000434452:exon14:c.C2114G:p.S705C;	3.21314098131713E-4	0.202
18	28581705	G	T	18	31001739	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon14:c.C2114A:p.S705Y;DSC3:NM_024423:exon14:c.C2114A:p.S705Y;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon14:c.C2114A:p.S705Y;ENSG00000134762:ENST00000434452:exon14:c.C2114A:p.S705Y;	1.92729130901741E-4	0.0
18	28581706	C	A	18	31001740	y	y	splicing	DSC3(NM_001941:exon15:c.2114-1G>T;NM_024423:exon15:c.2114-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2114-1G>T;ENST00000434452:exon15:c.2114-1G>T;ENST00000584980:exon4:c.238-1G>T)	.	.	0.999957317860884	0.944
18	28581706	C	G	18	31001740	y	y	splicing	DSC3(NM_001941:exon15:c.2114-1G>C;NM_024423:exon15:c.2114-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2114-1G>C;ENST00000434452:exon15:c.2114-1G>C;ENST00000584980:exon4:c.238-1G>C)	.	.	0.999957317860884	0.952
18	28581706	C	T	18	31001740	y	y	splicing	DSC3(NM_001941:exon15:c.2114-1G>A;NM_024423:exon15:c.2114-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2114-1G>A;ENST00000434452:exon15:c.2114-1G>A;ENST00000584980:exon4:c.238-1G>A)	.	.	0.999957317860884	0.944
18	28581707	T	A	18	31001741	y	y	splicing	DSC3(NM_001941:exon15:c.2114-2A>T;NM_024423:exon15:c.2114-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2114-2A>T;ENST00000434452:exon15:c.2114-2A>T;ENST00000584980:exon4:c.238-2A>T)	.	.	0.99998333267497	0.934
18	28581707	T	C	18	31001741	y	y	splicing	DSC3(NM_001941:exon15:c.2114-2A>G;NM_024423:exon15:c.2114-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2114-2A>G;ENST00000434452:exon15:c.2114-2A>G;ENST00000584980:exon4:c.238-2A>G)	.	.	0.99998333267497	0.944
18	28581707	T	G	18	31001741	y	y	splicing	DSC3(NM_001941:exon15:c.2114-2A>C;NM_024423:exon15:c.2114-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon15:c.2114-2A>C;ENST00000434452:exon15:c.2114-2A>C;ENST00000584980:exon4:c.238-2A>C)	.	.	0.99998333267497	0.944
18	28581708	G	A	18	31001742	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.88150780219707E-4	0.018
18	28581708	G	C	18	31001742	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999498206735771	0.758
18	28581708	G	T	18	31001742	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.797371128049772	0.69
18	28581709	A	C	18	31001743	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00100846058393867	0.058
18	28581709	A	G	18	31001743	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.74016390694236E-4	0.098
18	28581709	A	T	18	31001743	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.2660820652028E-4	0.0
18	28581710	A	C	18	31001744	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999172704006031	0.786
18	28581710	A	G	18	31001744	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00281565956467638	0.076
18	28581710	A	T	18	31001744	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.420169581566518	0.226
18	28581711	T	A	18	31001745	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.79019377666806E-4	0.024
18	28581711	T	C	18	31001745	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998115260966551	0.976
18	28581711	T	G	18	31001745	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.63502503002996E-4	0.01
18	28581712	T	A	18	31001746	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.87479289399327E-4	0.016
18	28581712	T	C	18	31001746	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999834189130221	0.924
18	28581712	T	G	18	31001746	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.910521705168E-4	0.014
18	28581713	T	A	18	31001747	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.95048459408849E-5	0.0
18	28581713	T	C	18	31001747	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.09400759180755E-5	0.004
18	28581713	T	G	18	31001747	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.06481237244302E-5	0.0
18	28581714	A	C	18	31001748	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00432318347572307	0.142
18	28581714	A	G	18	31001748	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.58244071518768E-4	0.008
18	28581714	A	T	18	31001748	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00428610387046002	0.11
18	28581715	A	C	18	31001749	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0494877089335118	0.226
18	28581715	A	G	18	31001749	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.32227557505164E-4	0.03
18	28581715	A	T	18	31001749	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00671936905318318	0.134
18	28581716	A	C	18	31001750	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.369228537213781	0.53
18	28581716	A	G	18	31001750	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0101811413570107	0.074
18	28581716	A	T	18	31001750	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.697188743450581	0.492
18	28581717	A	C	18	31001751	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.053048144697538	0.266
18	28581717	A	G	18	31001751	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.85356344034056E-4	0.066
18	28581717	A	T	18	31001751	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0363042656768925	0.286
18	28584100	A	C	18	31004134	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.75706281670007E-4	0.0
18	28584100	A	G	18	31004134	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.52204790408492E-5	0.0
18	28584100	A	T	18	31004134	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.72415902301799E-4	0.0
18	28584101	T	A	18	31004135	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.0617073089448E-5	0.0
18	28584101	T	C	18	31004135	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.51403784937142E-4	0.0
18	28584101	T	G	18	31004135	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.51403784937142E-4	0.0
18	28584102	A	C	18	31004136	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99029791912632	0.774
18	28584102	A	G	18	31004136	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.9924899258841	0.82
18	28584102	A	T	18	31004136	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.975633105724093	0.736
18	28584103	C	A	18	31004137	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99997526369305	0.992
18	28584103	C	G	18	31004137	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99998225397877	0.96
18	28584103	C	T	18	31004137	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999970633514732	0.996
18	28584104	T	A	18	31004138	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.994874983319284	0.824
18	28584104	T	C	18	31004138	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998818267607905	0.85
18	28584104	T	G	18	31004138	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.971854233557176	0.662
18	28584105	T	A	18	31004139	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998715765022746	0.868
18	28584105	T	C	18	31004139	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0183849602071766	0.186
18	28584105	T	G	18	31004139	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998544317653273	0.838
18	28584106	A	C	18	31004140	y	y	splicing	DSC3(NM_001941:exon14:c.2113+2T>G;NM_024423:exon14:c.2113+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.2113+2T>G;ENST00000434452:exon14:c.2113+2T>G;ENST00000584980:exon3:c.237+2T>G)	.	.	0.999966514958823	0.94
18	28584106	A	G	18	31004140	y	y	splicing	DSC3(NM_001941:exon14:c.2113+2T>C;NM_024423:exon14:c.2113+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.2113+2T>C;ENST00000434452:exon14:c.2113+2T>C;ENST00000584980:exon3:c.237+2T>C)	.	.	0.997153402487096	0.722
18	28584106	A	T	18	31004140	y	y	splicing	DSC3(NM_001941:exon14:c.2113+2T>A;NM_024423:exon14:c.2113+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.2113+2T>A;ENST00000434452:exon14:c.2113+2T>A;ENST00000584980:exon3:c.237+2T>A)	.	.	0.999966514958823	0.944
18	28584107	C	A	18	31004141	y	y	splicing	DSC3(NM_001941:exon14:c.2113+1G>T;NM_024423:exon14:c.2113+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.2113+1G>T;ENST00000434452:exon14:c.2113+1G>T;ENST00000584980:exon3:c.237+1G>T)	.	.	0.999933757597683	0.948
18	28584107	C	G	18	31004141	y	y	splicing	DSC3(NM_001941:exon14:c.2113+1G>C;NM_024423:exon14:c.2113+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.2113+1G>C;ENST00000434452:exon14:c.2113+1G>C;ENST00000584980:exon3:c.237+1G>C)	.	.	0.999933757597683	0.946
18	28584107	C	T	18	31004141	y	y	splicing	DSC3(NM_001941:exon14:c.2113+1G>A;NM_024423:exon14:c.2113+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.2113+1G>A;ENST00000434452:exon14:c.2113+1G>A;ENST00000584980:exon3:c.237+1G>A)	.	.	0.99993314117114	0.948
18	28584108	A	C	18	31004142	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T2113G:p.S705A;DSC3:NM_024423:exon13:c.T2113G:p.S705A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2113G:p.S705A;ENSG00000134762:ENST00000434452:exon13:c.T2113G:p.S705A;	2.03657409092728E-4	0.136
18	28584108	A	G	18	31004142	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T2113C:p.S705P;DSC3:NM_024423:exon13:c.T2113C:p.S705P;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2113C:p.S705P;ENSG00000134762:ENST00000434452:exon13:c.T2113C:p.S705P;	0.00223158420529118	0.156
18	28584108	A	T	18	31004142	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T2113A:p.S705T;DSC3:NM_024423:exon13:c.T2113A:p.S705T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2113A:p.S705T;ENSG00000134762:ENST00000434452:exon13:c.T2113A:p.S705T;	2.56090714185859E-4	0.002
18	28584109	A	C	18	31004143	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T2112G:p.F704L;DSC3:NM_024423:exon13:c.T2112G:p.F704L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2112G:p.F704L;ENSG00000134762:ENST00000434452:exon13:c.T2112G:p.F704L;	1.60051529502818E-4	0.1
18	28584109	A	G	18	31004143	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon13:c.T2112C:p.F704F;DSC3:NM_024423:exon13:c.T2112C:p.F704F;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2112C:p.F704F;ENSG00000134762:ENST00000434452:exon13:c.T2112C:p.F704F;	1.09274120230878E-4	0.014
18	28584109	A	T	18	31004143	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T2112A:p.F704L;DSC3:NM_024423:exon13:c.T2112A:p.F704L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2112A:p.F704L;ENSG00000134762:ENST00000434452:exon13:c.T2112A:p.F704L;	1.1443364797921E-4	0.098
18	28584110	A	C	18	31004144	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T2111G:p.F704C;DSC3:NM_024423:exon13:c.T2111G:p.F704C;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2111G:p.F704C;ENSG00000134762:ENST00000434452:exon13:c.T2111G:p.F704C;	1.3706450639619E-4	0.012
18	28584110	A	G	18	31004144	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T2111C:p.F704S;DSC3:NM_024423:exon13:c.T2111C:p.F704S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2111C:p.F704S;ENSG00000134762:ENST00000434452:exon13:c.T2111C:p.F704S;	6.69523187335458E-5	0.012
18	28584110	A	T	18	31004144	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T2111A:p.F704Y;DSC3:NM_024423:exon13:c.T2111A:p.F704Y;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T2111A:p.F704Y;ENSG00000134762:ENST00000434452:exon13:c.T2111A:p.F704Y;	5.53473583546841E-5	0.006
18	28584331	A	C	18	31004365	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T1890G:p.D630E;DSC3:NM_024423:exon13:c.T1890G:p.D630E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T1890G:p.D630E;ENSG00000134762:ENST00000434452:exon13:c.T1890G:p.D630E;	1.54501075334747E-4	0.012
18	28584331	A	G	18	31004365	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon13:c.T1890C:p.D630D;DSC3:NM_024423:exon13:c.T1890C:p.D630D;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T1890C:p.D630D;ENSG00000134762:ENST00000434452:exon13:c.T1890C:p.D630D;	2.75789547969091E-4	0.08
18	28584331	A	T	18	31004365	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.T1890A:p.D630E;DSC3:NM_024423:exon13:c.T1890A:p.D630E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.T1890A:p.D630E;ENSG00000134762:ENST00000434452:exon13:c.T1890A:p.D630E;	1.24266992086622E-4	0.038
18	28584332	T	A	18	31004366	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.A1889T:p.D630V;DSC3:NM_024423:exon13:c.A1889T:p.D630V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.A1889T:p.D630V;ENSG00000134762:ENST00000434452:exon13:c.A1889T:p.D630V;	0.00102361381879309	0.022
18	28584332	T	C	18	31004366	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.A1889G:p.D630G;DSC3:NM_024423:exon13:c.A1889G:p.D630G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.A1889G:p.D630G;ENSG00000134762:ENST00000434452:exon13:c.A1889G:p.D630G;	2.10038675066764E-4	0.004
18	28584332	T	G	18	31004366	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon13:c.A1889C:p.D630A;DSC3:NM_024423:exon13:c.A1889C:p.D630A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon13:c.A1889C:p.D630A;ENSG00000134762:ENST00000434452:exon13:c.A1889C:p.D630A;	0.00102361381879309	0.028
18	28584333	C	A	18	31004367	y	y	splicing	DSC3(NM_001941:exon14:c.1889-1G>T;NM_024423:exon14:c.1889-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.1889-1G>T;ENST00000434452:exon14:c.1889-1G>T;ENST00000584980:exon3:c.13-1G>T)	.	.	0.999985532734767	0.936
18	28584333	C	G	18	31004367	y	y	splicing	DSC3(NM_001941:exon14:c.1889-1G>C;NM_024423:exon14:c.1889-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.1889-1G>C;ENST00000434452:exon14:c.1889-1G>C;ENST00000584980:exon3:c.13-1G>C)	.	.	0.999974090184857	0.936
18	28584333	C	T	18	31004367	y	y	splicing	DSC3(NM_001941:exon14:c.1889-1G>A;NM_024423:exon14:c.1889-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.1889-1G>A;ENST00000434452:exon14:c.1889-1G>A;ENST00000584980:exon3:c.13-1G>A)	.	.	0.999985532734767	0.936
18	28584334	T	A	18	31004368	y	y	splicing	DSC3(NM_001941:exon14:c.1889-2A>T;NM_024423:exon14:c.1889-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.1889-2A>T;ENST00000434452:exon14:c.1889-2A>T;ENST00000584980:exon3:c.13-2A>T)	.	.	0.999988247793601	0.926
18	28584334	T	C	18	31004368	y	y	splicing	DSC3(NM_001941:exon14:c.1889-2A>G;NM_024423:exon14:c.1889-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.1889-2A>G;ENST00000434452:exon14:c.1889-2A>G;ENST00000584980:exon3:c.13-2A>G)	.	.	0.999978952611685	0.928
18	28584334	T	G	18	31004368	y	y	splicing	DSC3(NM_001941:exon14:c.1889-2A>C;NM_024423:exon14:c.1889-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon14:c.1889-2A>C;ENST00000434452:exon14:c.1889-2A>C;ENST00000584980:exon3:c.13-2A>C)	.	.	0.999978952611685	0.928
18	28584335	G	A	18	31004369	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0204593190501751	0.1
18	28584335	G	C	18	31004369	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999592926005073	0.964
18	28584335	G	T	18	31004369	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.544421126455305	0.528
18	28584336	A	C	18	31004370	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.58170094525373E-5	0.004
18	28584336	A	G	18	31004370	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.03974184947536E-5	0.002
18	28584336	A	T	18	31004370	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.29968975558613E-4	0.0
18	28584337	A	C	18	31004371	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.52190337655387E-4	0.134
18	28584337	A	G	18	31004371	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.4160263722005E-4	0.014
18	28584337	A	T	18	31004371	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.25551956073206E-4	0.124
18	28584338	A	C	18	31004372	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00927144835027681	0.176
18	28584338	A	G	18	31004372	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.30348781106965E-4	0.038
18	28584338	A	T	18	31004372	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0280528145144057	0.184
18	28584339	G	A	18	31004373	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.61674241156973E-5	0.0
18	28584339	G	C	18	31004373	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.28868184513741E-4	0.018
18	28584339	G	T	18	31004373	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.98849320007644E-4	0.03
18	28584340	A	C	18	31004374	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.31117604281559E-4	0.034
18	28584340	A	G	18	31004374	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.52511677950849E-5	0.0
18	28584340	A	T	18	31004374	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.07385347837357E-4	0.036
18	28584341	A	C	18	31004375	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00119262546699643	0.216
18	28584341	A	G	18	31004375	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.69160220811879E-4	0.016
18	28584341	A	T	18	31004375	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00156282366360129	0.204
18	28584342	A	C	18	31004376	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.21555859271481E-4	0.202
18	28584342	A	G	18	31004376	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.60102681020753E-4	0.03
18	28584342	A	T	18	31004376	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00348707780342947	0.176
18	28584343	A	C	18	31004377	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.987989006979003	0.914
18	28584343	A	G	18	31004377	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.14286837855507E-4	0.022
18	28584343	A	T	18	31004377	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.04530981223753E-4	0.168
18	28584344	T	A	18	31004378	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.91002315039961E-5	0.01
18	28584344	T	C	18	31004378	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.74531234371475E-5	0.0
18	28584344	T	G	18	31004378	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.55326765736716E-5	0.0
18	28586865	T	A	18	31006899	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.15169729471701E-5	0.004
18	28586865	T	C	18	31006899	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.53552819744107E-5	0.0
18	28586865	T	G	18	31006899	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.2070287382419E-5	0.004
18	28586866	T	A	18	31006900	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.21089199772768E-5	0.006
18	28586866	T	C	18	31006900	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.07107596371004E-4	0.002
18	28586866	T	G	18	31006900	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.88041458884479E-5	0.02
18	28586867	A	C	18	31006901	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0190974619698112	0.298
18	28586867	A	G	18	31006901	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.659512652723772	0.592
18	28586867	A	T	18	31006901	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.369779143024788	0.548
18	28586868	A	C	18	31006902	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.83580009149111E-4	0.076
18	28586868	A	G	18	31006902	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.50071575776043E-4	0.106
18	28586868	A	T	18	31006902	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00100343987427098	0.028
18	28586869	A	C	18	31006903	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00242758433450839	0.028
18	28586869	A	G	18	31006903	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.02557705356938E-4	0.064
18	28586869	A	T	18	31006903	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.87140989601169E-4	0.054
18	28586870	T	A	18	31006904	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999857973487325	0.908
18	28586870	T	C	18	31006904	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998248898110479	0.83
18	28586870	T	G	18	31006904	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999812272274299	0.892
18	28586871	A	C	18	31006905	y	y	splicing	DSC3(NM_001941:exon13:c.1888+2T>G;NM_024423:exon13:c.1888+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1888+2T>G;ENST00000434452:exon13:c.1888+2T>G;ENST00000584980:exon2:c.12+2T>G)	.	.	0.999980458178334	0.898
18	28586871	A	G	18	31006905	y	y	splicing	DSC3(NM_001941:exon13:c.1888+2T>C;NM_024423:exon13:c.1888+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1888+2T>C;ENST00000434452:exon13:c.1888+2T>C;ENST00000584980:exon2:c.12+2T>C)	.	.	0.929217405331876	0.486
18	28586871	A	T	18	31006905	y	y	splicing	DSC3(NM_001941:exon13:c.1888+2T>A;NM_024423:exon13:c.1888+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1888+2T>A;ENST00000434452:exon13:c.1888+2T>A;ENST00000584980:exon2:c.12+2T>A)	.	.	0.999980458178334	0.894
18	28586872	C	A	18	31006906	y	y	splicing	DSC3(NM_001941:exon13:c.1888+1G>T;NM_024423:exon13:c.1888+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1888+1G>T;ENST00000434452:exon13:c.1888+1G>T;ENST00000584980:exon2:c.12+1G>T)	.	.	0.999977844058774	0.9
18	28586872	C	G	18	31006906	y	y	splicing	DSC3(NM_001941:exon13:c.1888+1G>C;NM_024423:exon13:c.1888+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1888+1G>C;ENST00000434452:exon13:c.1888+1G>C;ENST00000584980:exon2:c.12+1G>C)	.	.	0.999977844058774	0.904
18	28586872	C	T	18	31006906	y	y	splicing	DSC3(NM_001941:exon13:c.1888+1G>A;NM_024423:exon13:c.1888+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1888+1G>A;ENST00000434452:exon13:c.1888+1G>A;ENST00000584980:exon2:c.12+1G>A)	.	.	0.999962888900458	0.894
18	28586873	C	A	18	31006907	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.G1888T:p.D630Y;DSC3:NM_024423:exon12:c.G1888T:p.D630Y;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.G1888T:p.D630Y;ENSG00000134762:ENST00000434452:exon12:c.G1888T:p.D630Y;	0.999958712790189	0.97
18	28586873	C	G	18	31006907	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.G1888C:p.D630H;DSC3:NM_024423:exon12:c.G1888C:p.D630H;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.G1888C:p.D630H;ENSG00000134762:ENST00000434452:exon12:c.G1888C:p.D630H;	0.999968847873789	0.97
18	28586873	C	T	18	31006907	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.G1888A:p.D630N;DSC3:NM_024423:exon12:c.G1888A:p.D630N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.G1888A:p.D630N;ENSG00000134762:ENST00000434452:exon12:c.G1888A:p.D630N;	0.999991387679437	0.988
18	28586874	A	C	18	31006908	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.T1887G:p.N629K;DSC3:NM_024423:exon12:c.T1887G:p.N629K;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.T1887G:p.N629K;ENSG00000134762:ENST00000434452:exon12:c.T1887G:p.N629K;	2.93908122808146E-4	0.176
18	28586874	A	G	18	31006908	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon12:c.T1887C:p.N629N;DSC3:NM_024423:exon12:c.T1887C:p.N629N;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.T1887C:p.N629N;ENSG00000134762:ENST00000434452:exon12:c.T1887C:p.N629N;	0.00186626937396415	0.182
18	28586874	A	T	18	31006908	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.T1887A:p.N629K;DSC3:NM_024423:exon12:c.T1887A:p.N629K;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.T1887A:p.N629K;ENSG00000134762:ENST00000434452:exon12:c.T1887A:p.N629K;	0.00155235894371936	0.2
18	28586875	T	A	18	31006909	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.A1886T:p.N629I;DSC3:NM_024423:exon12:c.A1886T:p.N629I;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.A1886T:p.N629I;ENSG00000134762:ENST00000434452:exon12:c.A1886T:p.N629I;	0.174737450101834	0.452
18	28586875	T	C	18	31006909	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.A1886G:p.N629S;DSC3:NM_024423:exon12:c.A1886G:p.N629S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.A1886G:p.N629S;ENSG00000134762:ENST00000434452:exon12:c.A1886G:p.N629S;	0.00216695285334215	0.128
18	28586875	T	G	18	31006909	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.A1886C:p.N629T;DSC3:NM_024423:exon12:c.A1886C:p.N629T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.A1886C:p.N629T;ENSG00000134762:ENST00000434452:exon12:c.A1886C:p.N629T;	0.00382159690673487	0.036
18	28587096	A	C	18	31007130	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.T1665G:p.D555E;DSC3:NM_024423:exon12:c.T1665G:p.D555E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.T1665G:p.D555E;ENSG00000134762:ENST00000434452:exon12:c.T1665G:p.D555E;	2.78763963369787E-5	0.006
18	28587096	A	G	18	31007130	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon12:c.T1665C:p.D555D;DSC3:NM_024423:exon12:c.T1665C:p.D555D;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.T1665C:p.D555D;ENSG00000134762:ENST00000434452:exon12:c.T1665C:p.D555D;	2.88432470050012E-5	0.004
18	28587096	A	T	18	31007130	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.T1665A:p.D555E;DSC3:NM_024423:exon12:c.T1665A:p.D555E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.T1665A:p.D555E;ENSG00000134762:ENST00000434452:exon12:c.T1665A:p.D555E;	6.3478730066797E-5	0.042
18	28587097	T	A	18	31007131	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.A1664T:p.D555V;DSC3:NM_024423:exon12:c.A1664T:p.D555V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.A1664T:p.D555V;ENSG00000134762:ENST00000434452:exon12:c.A1664T:p.D555V;	8.13555086406472E-5	0.096
18	28587097	T	C	18	31007131	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.A1664G:p.D555G;DSC3:NM_024423:exon12:c.A1664G:p.D555G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.A1664G:p.D555G;ENSG00000134762:ENST00000434452:exon12:c.A1664G:p.D555G;	1.61692294100039E-5	0.002
18	28587097	T	G	18	31007131	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon12:c.A1664C:p.D555A;DSC3:NM_024423:exon12:c.A1664C:p.D555A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon12:c.A1664C:p.D555A;ENSG00000134762:ENST00000434452:exon12:c.A1664C:p.D555A;	2.22756556884937E-4	0.2
18	28587098	C	A	18	31007132	y	y	splicing	DSC3(NM_001941:exon13:c.1664-1G>T;NM_024423:exon13:c.1664-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1664-1G>T;ENST00000434452:exon13:c.1664-1G>T)	.	.	0.999990123758928	0.772
18	28587098	C	G	18	31007132	y	y	splicing	DSC3(NM_001941:exon13:c.1664-1G>C;NM_024423:exon13:c.1664-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1664-1G>C;ENST00000434452:exon13:c.1664-1G>C)	.	.	0.999990123758928	0.772
18	28587098	C	T	18	31007132	y	y	splicing	DSC3(NM_001941:exon13:c.1664-1G>A;NM_024423:exon13:c.1664-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1664-1G>A;ENST00000434452:exon13:c.1664-1G>A)	.	.	0.999990123758928	0.77
18	28587099	T	A	18	31007133	y	y	splicing	DSC3(NM_001941:exon13:c.1664-2A>T;NM_024423:exon13:c.1664-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1664-2A>T;ENST00000434452:exon13:c.1664-2A>T)	.	.	0.999989378869813	0.758
18	28587099	T	C	18	31007133	y	y	splicing	DSC3(NM_001941:exon13:c.1664-2A>G;NM_024423:exon13:c.1664-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1664-2A>G;ENST00000434452:exon13:c.1664-2A>G)	.	.	0.999989378869813	0.758
18	28587099	T	G	18	31007133	y	y	splicing	DSC3(NM_001941:exon13:c.1664-2A>C;NM_024423:exon13:c.1664-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon13:c.1664-2A>C;ENST00000434452:exon13:c.1664-2A>C)	.	.	0.999989378869813	0.758
18	28587100	A	C	18	31007134	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.989851981939005	0.74
18	28587100	A	G	18	31007134	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.4122926110621E-5	0.008
18	28587100	A	T	18	31007134	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0493179253104329	0.22
18	28587101	A	C	18	31007135	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.67778986394987E-6	0.0
18	28587101	A	G	18	31007135	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.00824122626458E-5	0.004
18	28587101	A	T	18	31007135	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.45205793810613E-6	0.0
18	28587102	G	A	18	31007136	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.58150250244176E-5	0.018
18	28587102	G	C	18	31007136	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.70634006910493E-4	0.224
18	28587102	G	T	18	31007136	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.96626568049456E-4	0.178
18	28587103	G	A	18	31007137	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.68003050621248E-5	0.006
18	28587103	G	C	18	31007137	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.7984089338386E-4	0.124
18	28587103	G	T	18	31007137	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.63895850644796E-4	0.102
18	28587104	A	C	18	31007138	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.7883094121617E-4	0.08
18	28587104	A	G	18	31007138	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.10368363346246E-6	0.012
18	28587104	A	T	18	31007138	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.97473435263368E-4	0.074
18	28587105	G	A	18	31007139	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.66198296536327E-5	0.002
18	28587105	G	C	18	31007139	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.78026606872392E-4	0.012
18	28587105	G	T	18	31007139	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.58339463018947E-4	0.074
18	28587106	A	C	18	31007140	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00101148829255856	0.168
18	28587106	A	G	18	31007140	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.6162498482441E-4	0.006
18	28587106	A	T	18	31007140	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00141294672260535	0.204
18	28587107	C	A	18	31007141	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.33041095355664E-5	0.058
18	28587107	C	G	18	31007141	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.22707942625607E-6	0.0
18	28587107	C	T	18	31007141	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.38307398414701E-5	0.09
18	28587108	A	C	18	31007142	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00134651580600209	0.136
18	28587108	A	G	18	31007142	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.23203350512714E-4	0.074
18	28587108	A	T	18	31007142	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999806882692883	0.952
18	28587109	G	A	18	31007143	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.24357514375054E-5	0.0
18	28587109	G	C	18	31007143	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.90733703709222E-5	0.02
18	28587109	G	T	18	31007143	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.16114429355155E-5	0.024
18	28587974	T	A	18	31008008	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.7718548018158E-5	0.002
18	28587974	T	C	18	31008008	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.4518697930878E-5	0.0
18	28587974	T	G	18	31008008	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.7718548018158E-5	0.0
18	28587975	T	A	18	31008009	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.32244071165491E-4	0.026
18	28587975	T	C	18	31008009	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.01848527328851E-5	0.0
18	28587975	T	G	18	31008009	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.17815906299571E-5	0.0
18	28587976	T	A	18	31008010	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.25044505712485E-4	0.008
18	28587976	T	C	18	31008010	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.58930537507271E-5	0.0
18	28587976	T	G	18	31008010	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.46562343637694E-4	0.058
18	28587977	T	A	18	31008011	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.63314722156804E-4	0.038
18	28587977	T	C	18	31008011	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.58205905749782E-4	0.1
18	28587977	T	G	18	31008011	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.30483037959229E-4	0.03
18	28587978	T	A	18	31008012	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.547950695915095	0.426
18	28587978	T	C	18	31008012	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.4319759471922	0.456
18	28587978	T	G	18	31008012	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.445298164762609	0.362
18	28587979	T	A	18	31008013	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999764566862277	0.96
18	28587979	T	C	18	31008013	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99171384657965	0.762
18	28587979	T	G	18	31008013	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999863468554148	0.972
18	28587980	A	C	18	31008014	y	y	splicing	DSC3(NM_001941:exon12:c.1663+2T>G;NM_024423:exon12:c.1663+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1663+2T>G;ENST00000434452:exon12:c.1663+2T>G)	.	.	0.999988247793601	0.93
18	28587980	A	G	18	31008014	y	y	splicing	DSC3(NM_001941:exon12:c.1663+2T>C;NM_024423:exon12:c.1663+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1663+2T>C;ENST00000434452:exon12:c.1663+2T>C)	.	.	0.992577803696025	0.698
18	28587980	A	T	18	31008014	y	y	splicing	DSC3(NM_001941:exon12:c.1663+2T>A;NM_024423:exon12:c.1663+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1663+2T>A;ENST00000434452:exon12:c.1663+2T>A)	.	.	0.999988247793601	0.93
18	28587981	C	A	18	31008015	y	y	splicing	DSC3(NM_001941:exon12:c.1663+1G>T;NM_024423:exon12:c.1663+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1663+1G>T;ENST00000434452:exon12:c.1663+1G>T)	.	.	0.999990361384395	0.936
18	28587981	C	G	18	31008015	y	y	splicing	DSC3(NM_001941:exon12:c.1663+1G>C;NM_024423:exon12:c.1663+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1663+1G>C;ENST00000434452:exon12:c.1663+1G>C)	.	.	0.999990361384395	0.936
18	28587981	C	T	18	31008015	y	y	splicing	DSC3(NM_001941:exon12:c.1663+1G>A;NM_024423:exon12:c.1663+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1663+1G>A;ENST00000434452:exon12:c.1663+1G>A)	.	.	0.999990361384395	0.936
18	28587982	C	A	18	31008016	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.G1663T:p.D555Y;DSC3:NM_024423:exon11:c.G1663T:p.D555Y;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.G1663T:p.D555Y;ENSG00000134762:ENST00000434452:exon11:c.G1663T:p.D555Y;	0.999990103804354	0.996
18	28587982	C	G	18	31008016	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.G1663C:p.D555H;DSC3:NM_024423:exon11:c.G1663C:p.D555H;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.G1663C:p.D555H;ENSG00000134762:ENST00000434452:exon11:c.G1663C:p.D555H;	0.999994091476438	0.992
18	28587982	C	T	18	31008016	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.G1663A:p.D555N;DSC3:NM_024423:exon11:c.G1663A:p.D555N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.G1663A:p.D555N;ENSG00000134762:ENST00000434452:exon11:c.G1663A:p.D555N;	0.999972897183106	0.974
18	28587983	T	A	18	31008017	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.A1662T:p.K554N;DSC3:NM_024423:exon11:c.A1662T:p.K554N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.A1662T:p.K554N;ENSG00000134762:ENST00000434452:exon11:c.A1662T:p.K554N;	0.9925550319754	0.64
18	28587983	T	C	18	31008017	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon11:c.A1662G:p.K554K;DSC3:NM_024423:exon11:c.A1662G:p.K554K;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.A1662G:p.K554K;ENSG00000134762:ENST00000434452:exon11:c.A1662G:p.K554K;	0.996811335687715	0.73
18	28587983	T	G	18	31008017	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.A1662C:p.K554N;DSC3:NM_024423:exon11:c.A1662C:p.K554N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.A1662C:p.K554N;ENSG00000134762:ENST00000434452:exon11:c.A1662C:p.K554N;	0.671414706428975	0.506
18	28587984	T	A	18	31008018	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.A1661T:p.K554I;DSC3:NM_024423:exon11:c.A1661T:p.K554I;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.A1661T:p.K554I;ENSG00000134762:ENST00000434452:exon11:c.A1661T:p.K554I;	0.433107597254858	0.504
18	28587984	T	C	18	31008018	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.A1661G:p.K554R;DSC3:NM_024423:exon11:c.A1661G:p.K554R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.A1661G:p.K554R;ENSG00000134762:ENST00000434452:exon11:c.A1661G:p.K554R;	1.50057312386818E-4	0.006
18	28587984	T	G	18	31008018	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.A1661C:p.K554T;DSC3:NM_024423:exon11:c.A1661C:p.K554T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.A1661C:p.K554T;ENSG00000134762:ENST00000434452:exon11:c.A1661C:p.K554T;	1.05183872602675E-4	0.0
18	28588123	A	C	18	31008157	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.T1522G:p.Y508D;DSC3:NM_024423:exon11:c.T1522G:p.Y508D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.T1522G:p.Y508D;ENSG00000134762:ENST00000434452:exon11:c.T1522G:p.Y508D;	0.586328236488263	0.644
18	28588123	A	G	18	31008157	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.T1522C:p.Y508H;DSC3:NM_024423:exon11:c.T1522C:p.Y508H;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.T1522C:p.Y508H;ENSG00000134762:ENST00000434452:exon11:c.T1522C:p.Y508H;	0.586328236488263	0.608
18	28588123	A	T	18	31008157	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.T1522A:p.Y508N;DSC3:NM_024423:exon11:c.T1522A:p.Y508N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.T1522A:p.Y508N;ENSG00000134762:ENST00000434452:exon11:c.T1522A:p.Y508N;	0.482051949855044	0.624
18	28588124	C	A	18	31008158	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.G1521T:p.R507S;DSC3:NM_024423:exon11:c.G1521T:p.R507S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.G1521T:p.R507S;ENSG00000134762:ENST00000434452:exon11:c.G1521T:p.R507S;	0.917865383699747	0.53
18	28588124	C	G	18	31008158	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon11:c.G1521C:p.R507S;DSC3:NM_024423:exon11:c.G1521C:p.R507S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.G1521C:p.R507S;ENSG00000134762:ENST00000434452:exon11:c.G1521C:p.R507S;	0.63340950290113	0.384
18	28588124	C	T	18	31008158	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon11:c.G1521A:p.R507R;DSC3:NM_024423:exon11:c.G1521A:p.R507R;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon11:c.G1521A:p.R507R;ENSG00000134762:ENST00000434452:exon11:c.G1521A:p.R507R;	1.48038791664749E-4	0.08
18	28588125	C	A	18	31008159	y	y	splicing	DSC3(NM_001941:exon12:c.1521-1G>T;NM_024423:exon12:c.1521-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1521-1G>T;ENST00000434452:exon12:c.1521-1G>T)	.	.	0.999990361384395	0.936
18	28588125	C	G	18	31008159	y	y	splicing	DSC3(NM_001941:exon12:c.1521-1G>C;NM_024423:exon12:c.1521-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1521-1G>C;ENST00000434452:exon12:c.1521-1G>C)	.	.	0.999990361384395	0.938
18	28588125	C	T	18	31008159	y	y	splicing	DSC3(NM_001941:exon12:c.1521-1G>A;NM_024423:exon12:c.1521-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1521-1G>A;ENST00000434452:exon12:c.1521-1G>A)	.	.	0.999990361384395	0.936
18	28588126	T	A	18	31008160	y	y	splicing	DSC3(NM_001941:exon12:c.1521-2A>T;NM_024423:exon12:c.1521-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1521-2A>T;ENST00000434452:exon12:c.1521-2A>T)	.	.	0.999988247793601	0.93
18	28588126	T	C	18	31008160	y	y	splicing	DSC3(NM_001941:exon12:c.1521-2A>G;NM_024423:exon12:c.1521-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1521-2A>G;ENST00000434452:exon12:c.1521-2A>G)	.	.	0.999988247793601	0.93
18	28588126	T	G	18	31008160	y	y	splicing	DSC3(NM_001941:exon12:c.1521-2A>C;NM_024423:exon12:c.1521-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon12:c.1521-2A>C;ENST00000434452:exon12:c.1521-2A>C)	.	.	0.999988247793601	0.93
18	28588127	G	A	18	31008161	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00179690759998945	0.122
18	28588127	G	C	18	31008161	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99940214394642	0.91
18	28588127	G	T	18	31008161	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.237020085982342	0.326
18	28588128	T	A	18	31008162	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.07545644629084E-4	0.032
18	28588128	T	C	18	31008162	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.713290965627746	0.584
18	28588128	T	G	18	31008162	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.13632386302023E-4	0.01
18	28588129	T	A	18	31008163	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.33282416955212E-4	0.006
18	28588129	T	C	18	31008163	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.46295935937136E-4	0.02
18	28588129	T	G	18	31008163	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.16081624096944E-4	0.01
18	28588130	A	C	18	31008164	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.245989986515762	0.482
18	28588130	A	G	18	31008164	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.26621356851682E-4	0.006
18	28588130	A	T	18	31008164	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.278216383866261	0.408
18	28588131	A	C	18	31008165	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999611569434297	0.99
18	28588131	A	G	18	31008165	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.00466806249515E-5	0.0
18	28588131	A	T	18	31008165	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0259421100167451	0.224
18	28588132	T	A	18	31008166	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.53203007908217E-5	0.0
18	28588132	T	C	18	31008166	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.71593326759655E-5	0.0
18	28588132	T	G	18	31008166	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.17931870203937E-5	0.0
18	28588133	A	C	18	31008167	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00824815441381834	0.182
18	28588133	A	G	18	31008167	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.81963393425724E-5	0.01
18	28588133	A	T	18	31008167	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00306556978886554	0.16
18	28588134	A	C	18	31008168	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.165254823335471	0.428
18	28588134	A	G	18	31008168	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.96803136561611E-4	0.016
18	28588134	A	T	18	31008168	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.310920562348274	0.466
18	28588135	A	C	18	31008169	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.331484348289744	0.508
18	28588135	A	G	18	31008169	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0105830290277666	0.104
18	28588135	A	T	18	31008169	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.333839723155891	0.496
18	28588136	A	C	18	31008170	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.65379695669017	0.568
18	28588136	A	G	18	31008170	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0276924422282257	0.28
18	28588136	A	T	18	31008170	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.979062285442296	0.706
18	28588227	A	C	18	31008261	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.79891738202743E-5	0.0
18	28588227	A	G	18	31008261	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.26645085371278E-5	0.002
18	28588227	A	T	18	31008261	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.60368916200954E-5	0.0
18	28588228	T	A	18	31008262	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.21727474891857E-4	0.018
18	28588228	T	C	18	31008262	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.77163624550978E-4	0.016
18	28588228	T	G	18	31008262	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.00787505764898E-5	0.0
18	28588229	T	A	18	31008263	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.87104427432258E-5	0.014
18	28588229	T	C	18	31008263	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.27003031736283E-5	0.0
18	28588229	T	G	18	31008263	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.44169188952058E-4	0.018
18	28588230	T	A	18	31008264	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00103899278403704	0.046
18	28588230	T	C	18	31008264	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.49210478817195E-4	0.058
18	28588230	T	G	18	31008264	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.53210386514079E-4	0.078
18	28588231	T	A	18	31008265	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.292020442387614	0.384
18	28588231	T	C	18	31008265	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.680913513630585	0.518
18	28588231	T	G	18	31008265	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.557772054239811	0.388
18	28588232	T	A	18	31008266	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999905618196936	0.912
18	28588232	T	C	18	31008266	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.995498627007926	0.826
18	28588232	T	G	18	31008266	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999930250565514	0.948
18	28588233	A	C	18	31008267	y	y	splicing	DSC3(NM_001941:exon11:c.1520+2T>G;NM_024423:exon11:c.1520+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1520+2T>G;ENST00000434452:exon11:c.1520+2T>G)	.	.	0.999988247793601	0.93
18	28588233	A	G	18	31008267	y	y	splicing	DSC3(NM_001941:exon11:c.1520+2T>C;NM_024423:exon11:c.1520+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1520+2T>C;ENST00000434452:exon11:c.1520+2T>C)	.	.	0.99593384708436	0.71
18	28588233	A	T	18	31008267	y	y	splicing	DSC3(NM_001941:exon11:c.1520+2T>A;NM_024423:exon11:c.1520+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1520+2T>A;ENST00000434452:exon11:c.1520+2T>A)	.	.	0.999988247793601	0.93
18	28588234	C	A	18	31008268	y	y	splicing	DSC3(NM_001941:exon11:c.1520+1G>T;NM_024423:exon11:c.1520+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1520+1G>T;ENST00000434452:exon11:c.1520+1G>T)	.	.	0.999990361384395	0.938
18	28588234	C	G	18	31008268	y	y	splicing	DSC3(NM_001941:exon11:c.1520+1G>C;NM_024423:exon11:c.1520+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1520+1G>C;ENST00000434452:exon11:c.1520+1G>C)	.	.	0.999990361384395	0.936
18	28588234	C	T	18	31008268	y	y	splicing	DSC3(NM_001941:exon11:c.1520+1G>A;NM_024423:exon11:c.1520+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1520+1G>A;ENST00000434452:exon11:c.1520+1G>A)	.	.	0.999990361384395	0.938
18	28588235	C	A	18	31008269	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.G1520T:p.R507M;DSC3:NM_024423:exon10:c.G1520T:p.R507M;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.G1520T:p.R507M;ENSG00000134762:ENST00000434452:exon10:c.G1520T:p.R507M;	0.999993018555097	0.996
18	28588235	C	G	18	31008269	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.G1520C:p.R507T;DSC3:NM_024423:exon10:c.G1520C:p.R507T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.G1520C:p.R507T;ENSG00000134762:ENST00000434452:exon10:c.G1520C:p.R507T;	0.999996613288403	1.0
18	28588235	C	T	18	31008269	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.G1520A:p.R507K;DSC3:NM_024423:exon10:c.G1520A:p.R507K;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.G1520A:p.R507K;ENSG00000134762:ENST00000434452:exon10:c.G1520A:p.R507K;	0.999990873110619	1.0
18	28588236	T	A	18	31008270	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.A1519T:p.R507W;DSC3:NM_024423:exon10:c.A1519T:p.R507W;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.A1519T:p.R507W;ENSG00000134762:ENST00000434452:exon10:c.A1519T:p.R507W;	0.999921106512018	0.994
18	28588236	T	C	18	31008270	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.A1519G:p.R507G;DSC3:NM_024423:exon10:c.A1519G:p.R507G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.A1519G:p.R507G;ENSG00000134762:ENST00000434452:exon10:c.A1519G:p.R507G;	0.99988291811617	0.986
18	28588236	T	G	18	31008270	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon10:c.A1519C:p.R507R;DSC3:NM_024423:exon10:c.A1519C:p.R507R;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.A1519C:p.R507R;ENSG00000134762:ENST00000434452:exon10:c.A1519C:p.R507R;	0.908084513317241	0.684
18	28588237	T	A	18	31008271	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.A1518T:p.L506F;DSC3:NM_024423:exon10:c.A1518T:p.L506F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.A1518T:p.L506F;ENSG00000134762:ENST00000434452:exon10:c.A1518T:p.L506F;	0.942519395858003	0.686
18	28588237	T	C	18	31008271	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon10:c.A1518G:p.L506L;DSC3:NM_024423:exon10:c.A1518G:p.L506L;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.A1518G:p.L506L;ENSG00000134762:ENST00000434452:exon10:c.A1518G:p.L506L;	0.00407698713821486	0.094
18	28588237	T	G	18	31008271	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.A1518C:p.L506F;DSC3:NM_024423:exon10:c.A1518C:p.L506F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.A1518C:p.L506F;ENSG00000134762:ENST00000434452:exon10:c.A1518C:p.L506F;	0.0130370698875033	0.19
18	28588490	G	A	18	31008524	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1265T:p.P422L;DSC3:NM_024423:exon10:c.C1265T:p.P422L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.C1265T:p.P422L;ENSG00000134762:ENST00000434452:exon10:c.C1265T:p.P422L;	0.983735374738648	0.806
18	28588490	G	C	18	31008524	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1265G:p.P422R;DSC3:NM_024423:exon10:c.C1265G:p.P422R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.C1265G:p.P422R;ENSG00000134762:ENST00000434452:exon10:c.C1265G:p.P422R;	0.980732504861709	0.768
18	28588490	G	T	18	31008524	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1265A:p.P422Q;DSC3:NM_024423:exon10:c.C1265A:p.P422Q;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.C1265A:p.P422Q;ENSG00000134762:ENST00000434452:exon10:c.C1265A:p.P422Q;	0.991950851138415	0.732
18	28588491	G	A	18	31008525	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1264T:p.P422S;DSC3:NM_024423:exon10:c.C1264T:p.P422S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.C1264T:p.P422S;ENSG00000134762:ENST00000434452:exon10:c.C1264T:p.P422S;	0.992646651026116	0.826
18	28588491	G	C	18	31008525	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1264G:p.P422A;DSC3:NM_024423:exon10:c.C1264G:p.P422A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.C1264G:p.P422A;ENSG00000134762:ENST00000434452:exon10:c.C1264G:p.P422A;	0.00613489512744527	0.114
18	28588491	G	T	18	31008525	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1264A:p.P422T;DSC3:NM_024423:exon10:c.C1264A:p.P422T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon10:c.C1264A:p.P422T;ENSG00000134762:ENST00000434452:exon10:c.C1264A:p.P422T;	0.980209395458445	0.706
18	28588492	C	A	18	31008526	y	y	splicing	DSC3(NM_001941:exon11:c.1264-1G>T;NM_024423:exon11:c.1264-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1264-1G>T;ENST00000434452:exon11:c.1264-1G>T)	.	.	0.999987086597256	0.906
18	28588492	C	G	18	31008526	y	y	splicing	DSC3(NM_001941:exon11:c.1264-1G>C;NM_024423:exon11:c.1264-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1264-1G>C;ENST00000434452:exon11:c.1264-1G>C)	.	.	0.999987086597256	0.906
18	28588492	C	T	18	31008526	y	y	splicing	DSC3(NM_001941:exon11:c.1264-1G>A;NM_024423:exon11:c.1264-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1264-1G>A;ENST00000434452:exon11:c.1264-1G>A)	.	.	0.999983315092066	0.908
18	28588493	T	A	18	31008527	y	y	splicing	DSC3(NM_001941:exon11:c.1264-2A>T;NM_024423:exon11:c.1264-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1264-2A>T;ENST00000434452:exon11:c.1264-2A>T)	.	.	0.999942806147512	0.912
18	28588493	T	C	18	31008527	y	y	splicing	DSC3(NM_001941:exon11:c.1264-2A>G;NM_024423:exon11:c.1264-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1264-2A>G;ENST00000434452:exon11:c.1264-2A>G)	.	.	0.999942806147512	0.912
18	28588493	T	G	18	31008527	y	y	splicing	DSC3(NM_001941:exon11:c.1264-2A>C;NM_024423:exon11:c.1264-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon11:c.1264-2A>C;ENST00000434452:exon11:c.1264-2A>C)	.	.	0.999942806147512	0.912
18	28588494	T	A	18	31008528	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.65484975342267E-4	0.03
18	28588494	T	C	18	31008528	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0956811931254838	0.256
18	28588494	T	G	18	31008528	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.79479293045656E-4	0.126
18	28588495	T	A	18	31008529	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.5371590449863E-4	0.022
18	28588495	T	C	18	31008529	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.75257553402887E-4	0.062
18	28588495	T	G	18	31008529	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.9505836798847E-5	0.04
18	28588496	A	C	18	31008530	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.91084145257477	0.626
18	28588496	A	G	18	31008530	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.3449646550852E-4	0.068
18	28588496	A	T	18	31008530	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.522427782700163	0.558
18	28588497	A	C	18	31008531	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.794346076823083	0.626
18	28588497	A	G	18	31008531	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00245304045787764	0.062
18	28588497	A	T	18	31008531	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.834921927738567	0.624
18	28588498	A	C	18	31008532	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.255219481002812	0.492
18	28588498	A	G	18	31008532	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.07391315792312E-4	0.046
18	28588498	A	T	18	31008532	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.563005873486699	0.584
18	28588499	A	C	18	31008533	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.997064811745185	0.972
18	28588499	A	G	18	31008533	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.16024433281443E-5	0.002
18	28588499	A	T	18	31008533	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00394532576112015	0.11
18	28588500	T	A	18	31008534	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.74114186787615E-5	0.016
18	28588500	T	C	18	31008534	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.58121985929628E-5	0.042
18	28588500	T	G	18	31008534	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.77753678279485E-5	0.016
18	28588501	A	C	18	31008535	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00417517998761865	0.326
18	28588501	A	G	18	31008535	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.4563906636473E-4	0.044
18	28588501	A	T	18	31008535	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00697712761741255	0.306
18	28588502	A	C	18	31008536	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.321448105353086	0.536
18	28588502	A	G	18	31008536	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0265249659309211	0.38
18	28588502	A	T	18	31008536	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.917184706509873	0.658
18	28588503	A	C	18	31008537	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.544697760166231	0.574
18	28588503	A	G	18	31008537	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.65362031778721E-4	0.056
18	28588503	A	T	18	31008537	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.269002938261717	0.556
18	28598029	T	A	18	31018063	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.97954382137312E-4	0.002
18	28598029	T	C	18	31018063	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.65769985856413E-4	0.002
18	28598029	T	G	18	31018063	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.07189961998849E-4	0.018
18	28598030	A	C	18	31018064	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.34247194179266E-5	0.004
18	28598030	A	G	18	31018064	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.08376362840537E-4	0.0
18	28598030	A	T	18	31018064	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.05224118550348E-5	0.0
18	28598031	C	A	18	31018065	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.37010936302734E-4	0.032
18	28598031	C	G	18	31018065	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.7612146329641E-4	0.004
18	28598031	C	T	18	31018065	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.95069687679486E-4	0.014
18	28598032	T	A	18	31018066	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.97626354387627E-4	0.016
18	28598032	T	C	18	31018066	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.10838689456899E-5	0.014
18	28598032	T	G	18	31018066	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.74110941796089E-5	0.018
18	28598033	G	A	18	31018067	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.30253032488421E-5	0.018
18	28598033	G	C	18	31018067	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.2789411757966E-5	0.062
18	28598033	G	T	18	31018067	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.03703695193031E-5	0.068
18	28598034	T	A	18	31018068	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999959201943606	0.962
18	28598034	T	C	18	31018068	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.987330810778737	0.82
18	28598034	T	G	18	31018068	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999902769971667	0.93
18	28598035	A	C	18	31018069	y	y	splicing	DSC3(NM_001941:exon10:c.1263+2T>G;NM_024423:exon10:c.1263+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1263+2T>G;ENST00000434452:exon10:c.1263+2T>G)	.	.	0.999988247793601	0.928
18	28598035	A	G	18	31018069	y	y	splicing	DSC3(NM_001941:exon10:c.1263+2T>C;NM_024423:exon10:c.1263+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1263+2T>C;ENST00000434452:exon10:c.1263+2T>C)	.	.	0.993998724689378	0.668
18	28598035	A	T	18	31018069	y	y	splicing	DSC3(NM_001941:exon10:c.1263+2T>A;NM_024423:exon10:c.1263+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1263+2T>A;ENST00000434452:exon10:c.1263+2T>A)	.	.	0.999988247793601	0.928
18	28598036	C	A	18	31018070	y	y	splicing	DSC3(NM_001941:exon10:c.1263+1G>T;NM_024423:exon10:c.1263+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1263+1G>T;ENST00000434452:exon10:c.1263+1G>T)	.	.	0.999989072007339	0.932
18	28598036	C	G	18	31018070	y	y	splicing	DSC3(NM_001941:exon10:c.1263+1G>C;NM_024423:exon10:c.1263+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1263+1G>C;ENST00000434452:exon10:c.1263+1G>C)	.	.	0.999989072007339	0.932
18	28598036	C	T	18	31018070	y	y	splicing	DSC3(NM_001941:exon10:c.1263+1G>A;NM_024423:exon10:c.1263+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1263+1G>A;ENST00000434452:exon10:c.1263+1G>A)	.	.	0.999989072007339	0.92
18	28598037	C	A	18	31018071	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.G1263T:p.K421N;DSC3:NM_024423:exon9:c.G1263T:p.K421N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.G1263T:p.K421N;ENSG00000134762:ENST00000434452:exon9:c.G1263T:p.K421N;	0.999993585120544	0.972
18	28598037	C	G	18	31018071	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.G1263C:p.K421N;DSC3:NM_024423:exon9:c.G1263C:p.K421N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.G1263C:p.K421N;ENSG00000134762:ENST00000434452:exon9:c.G1263C:p.K421N;	0.999997007324834	1.0
18	28598037	C	T	18	31018071	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon9:c.G1263A:p.K421K;DSC3:NM_024423:exon9:c.G1263A:p.K421K;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.G1263A:p.K421K;ENSG00000134762:ENST00000434452:exon9:c.G1263A:p.K421K;	0.999980805150759	0.98
18	28598038	T	A	18	31018072	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.A1262T:p.K421M;DSC3:NM_024423:exon9:c.A1262T:p.K421M;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.A1262T:p.K421M;ENSG00000134762:ENST00000434452:exon9:c.A1262T:p.K421M;	0.999966131689213	0.994
18	28598038	T	C	18	31018072	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.A1262G:p.K421R;DSC3:NM_024423:exon9:c.A1262G:p.K421R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.A1262G:p.K421R;ENSG00000134762:ENST00000434452:exon9:c.A1262G:p.K421R;	0.999976331041034	0.99
18	28598038	T	G	18	31018072	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.A1262C:p.K421T;DSC3:NM_024423:exon9:c.A1262C:p.K421T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.A1262C:p.K421T;ENSG00000134762:ENST00000434452:exon9:c.A1262C:p.K421T;	0.999906662701281	1.0
18	28598039	T	A	18	31018073	y	y	exonic	DSC3	stopgain SNV	DSC3:NM_001941:exon9:c.A1261T:p.K421X;DSC3:NM_024423:exon9:c.A1261T:p.K421X;	exonic	ENSG00000134762	stopgain SNV	ENSG00000134762:ENST00000360428:exon9:c.A1261T:p.K421X;ENSG00000134762:ENST00000434452:exon9:c.A1261T:p.K421X;	0.999550849777133	0.9
18	28598039	T	C	18	31018073	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.A1261G:p.K421E;DSC3:NM_024423:exon9:c.A1261G:p.K421E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.A1261G:p.K421E;ENSG00000134762:ENST00000434452:exon9:c.A1261G:p.K421E;	0.87154524652764	0.444
18	28598039	T	G	18	31018073	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.A1261C:p.K421Q;DSC3:NM_024423:exon9:c.A1261C:p.K421Q;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.A1261C:p.K421Q;ENSG00000134762:ENST00000434452:exon9:c.A1261C:p.K421Q;	0.901917342205704	0.682
18	28598221	T	A	18	31018255	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.A1079T:p.Y360F;DSC3:NM_024423:exon9:c.A1079T:p.Y360F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.A1079T:p.Y360F;ENSG00000134762:ENST00000434452:exon9:c.A1079T:p.Y360F;	0.534614456824234	0.558
18	28598221	T	C	18	31018255	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.A1079G:p.Y360C;DSC3:NM_024423:exon9:c.A1079G:p.Y360C;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.A1079G:p.Y360C;ENSG00000134762:ENST00000434452:exon9:c.A1079G:p.Y360C;	0.86244112229258	0.596
18	28598221	T	G	18	31018255	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.A1079C:p.Y360S;DSC3:NM_024423:exon9:c.A1079C:p.Y360S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.A1079C:p.Y360S;ENSG00000134762:ENST00000434452:exon9:c.A1079C:p.Y360S;	0.909764458289445	0.722
18	28598222	A	C	18	31018256	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.T1078G:p.Y360D;DSC3:NM_024423:exon9:c.T1078G:p.Y360D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.T1078G:p.Y360D;ENSG00000134762:ENST00000434452:exon9:c.T1078G:p.Y360D;	0.76618177578622	0.402
18	28598222	A	G	18	31018256	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.T1078C:p.Y360H;DSC3:NM_024423:exon9:c.T1078C:p.Y360H;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.T1078C:p.Y360H;ENSG00000134762:ENST00000434452:exon9:c.T1078C:p.Y360H;	0.894226872196765	0.532
18	28598222	A	T	18	31018256	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon9:c.T1078A:p.Y360N;DSC3:NM_024423:exon9:c.T1078A:p.Y360N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon9:c.T1078A:p.Y360N;ENSG00000134762:ENST00000434452:exon9:c.T1078A:p.Y360N;	0.699446146557698	0.532
18	28598223	C	A	18	31018257	y	y	splicing	DSC3(NM_001941:exon10:c.1078-1G>T;NM_024423:exon10:c.1078-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1078-1G>T;ENST00000434452:exon10:c.1078-1G>T)	.	.	0.999949496871441	0.932
18	28598223	C	G	18	31018257	y	y	splicing	DSC3(NM_001941:exon10:c.1078-1G>C;NM_024423:exon10:c.1078-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1078-1G>C;ENST00000434452:exon10:c.1078-1G>C)	.	.	0.999949496871441	0.932
18	28598223	C	T	18	31018257	y	y	splicing	DSC3(NM_001941:exon10:c.1078-1G>A;NM_024423:exon10:c.1078-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1078-1G>A;ENST00000434452:exon10:c.1078-1G>A)	.	.	0.999949496871441	0.93
18	28598224	T	A	18	31018258	y	y	splicing	DSC3(NM_001941:exon10:c.1078-2A>T;NM_024423:exon10:c.1078-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1078-2A>T;ENST00000434452:exon10:c.1078-2A>T)	.	.	0.999988247793601	0.928
18	28598224	T	C	18	31018258	y	y	splicing	DSC3(NM_001941:exon10:c.1078-2A>G;NM_024423:exon10:c.1078-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1078-2A>G;ENST00000434452:exon10:c.1078-2A>G)	.	.	0.999978952611685	0.93
18	28598224	T	G	18	31018258	y	y	splicing	DSC3(NM_001941:exon10:c.1078-2A>C;NM_024423:exon10:c.1078-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon10:c.1078-2A>C;ENST00000434452:exon10:c.1078-2A>C)	.	.	0.999978952611685	0.93
18	28598225	G	A	18	31018259	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00188450563293525	0.038
18	28598225	G	C	18	31018259	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999703304847805	0.966
18	28598225	G	T	18	31018259	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.460793619945389	0.576
18	28598226	A	C	18	31018260	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.67710423885842E-4	0.02
18	28598226	A	G	18	31018260	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.5847889231546E-4	0.064
18	28598226	A	T	18	31018260	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.83269806694137E-4	0.026
18	28598227	A	C	18	31018261	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.918579483825532	0.664
18	28598227	A	G	18	31018261	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.218529788060008	0.314
18	28598227	A	T	18	31018261	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.965827999243052	0.634
18	28598228	A	C	18	31018262	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00934473948861136	0.186
18	28598228	A	G	18	31018262	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.50121455521626E-4	0.086
18	28598228	A	T	18	31018262	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0298032999388896	0.176
18	28598229	C	A	18	31018263	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.51887379453103E-4	0.0
18	28598229	C	G	18	31018263	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.96417990061078E-4	0.002
18	28598229	C	T	18	31018263	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.11990784548905E-4	0.008
18	28598230	A	C	18	31018264	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0019569120593816	0.118
18	28598230	A	G	18	31018264	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.48029692863557E-5	0.0
18	28598230	A	T	18	31018264	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999721920826204	0.982
18	28598231	G	A	18	31018265	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.715070323981E-4	0.034
18	28598231	G	C	18	31018265	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0030000602849865	0.164
18	28598231	G	T	18	31018265	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00478194187124437	0.126
18	28598232	A	C	18	31018266	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0437706053140588	0.308
18	28598232	A	G	18	31018266	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00504805342438229	0.156
18	28598232	A	T	18	31018266	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0328545090651406	0.34
18	28598233	A	C	18	31018267	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00504608685431394	0.276
18	28598233	A	G	18	31018267	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.08523059072643E-4	0.26
18	28598233	A	T	18	31018267	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0069943160248819	0.222
18	28598234	A	C	18	31018268	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0152876644158064	0.13
18	28598234	A	G	18	31018268	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.86004311595842E-4	0.018
18	28598234	A	T	18	31018268	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0114155892541349	0.124
18	28598624	A	C	18	31018658	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.35623639484383E-4	0.0
18	28598624	A	G	18	31018658	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.30477579161392E-5	0.0
18	28598624	A	T	18	31018658	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.19413156771798E-4	0.0
18	28598625	T	A	18	31018659	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.53958809329021E-4	0.014
18	28598625	T	C	18	31018659	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.88232451897503E-4	0.012
18	28598625	T	G	18	31018659	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.88232451897503E-4	0.014
18	28598626	A	C	18	31018660	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.967210935659897	0.832
18	28598626	A	G	18	31018660	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.978457349391729	0.864
18	28598626	A	T	18	31018660	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.989438715976797	0.768
18	28598627	C	A	18	31018661	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999975494129601	0.982
18	28598627	C	G	18	31018661	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999962705483618	0.972
18	28598627	C	T	18	31018661	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999978820776569	0.998
18	28598628	T	A	18	31018662	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.993102882219666	0.822
18	28598628	T	C	18	31018662	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.9900003190683	0.796
18	28598628	T	G	18	31018662	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.911607211183075	0.642
18	28598629	T	A	18	31018663	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999600268833153	0.896
18	28598629	T	C	18	31018663	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00486319256118406	0.22
18	28598629	T	G	18	31018663	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999611291830354	0.894
18	28598630	A	C	18	31018664	y	y	splicing	DSC3(NM_001941:exon9:c.1077+2T>G;NM_024423:exon9:c.1077+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.1077+2T>G;ENST00000434452:exon9:c.1077+2T>G)	.	.	0.999988247793601	0.932
18	28598630	A	G	18	31018664	y	y	splicing	DSC3(NM_001941:exon9:c.1077+2T>C;NM_024423:exon9:c.1077+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.1077+2T>C;ENST00000434452:exon9:c.1077+2T>C)	.	.	0.996218475494576	0.668
18	28598630	A	T	18	31018664	y	y	splicing	DSC3(NM_001941:exon9:c.1077+2T>A;NM_024423:exon9:c.1077+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.1077+2T>A;ENST00000434452:exon9:c.1077+2T>A)	.	.	0.999988247793601	0.932
18	28598631	C	A	18	31018665	y	y	splicing	DSC3(NM_001941:exon9:c.1077+1G>T;NM_024423:exon9:c.1077+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.1077+1G>T;ENST00000434452:exon9:c.1077+1G>T)	.	.	0.999989072007339	0.934
18	28598631	C	G	18	31018665	y	y	splicing	DSC3(NM_001941:exon9:c.1077+1G>C;NM_024423:exon9:c.1077+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.1077+1G>C;ENST00000434452:exon9:c.1077+1G>C)	.	.	0.999989072007339	0.934
18	28598631	C	T	18	31018665	y	y	splicing	DSC3(NM_001941:exon9:c.1077+1G>A;NM_024423:exon9:c.1077+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.1077+1G>A;ENST00000434452:exon9:c.1077+1G>A)	.	.	0.999989072007339	0.934
18	28598632	A	C	18	31018666	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon8:c.T1077G:p.A359A;DSC3:NM_024423:exon8:c.T1077G:p.A359A;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.T1077G:p.A359A;ENSG00000134762:ENST00000434452:exon8:c.T1077G:p.A359A;	0.00220315944849736	0.108
18	28598632	A	G	18	31018666	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon8:c.T1077C:p.A359A;DSC3:NM_024423:exon8:c.T1077C:p.A359A;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.T1077C:p.A359A;ENSG00000134762:ENST00000434452:exon8:c.T1077C:p.A359A;	0.0127692317122007	0.324
18	28598632	A	T	18	31018666	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon8:c.T1077A:p.A359A;DSC3:NM_024423:exon8:c.T1077A:p.A359A;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.T1077A:p.A359A;ENSG00000134762:ENST00000434452:exon8:c.T1077A:p.A359A;	8.16938702432894E-4	0.002
18	28598633	G	A	18	31018667	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.C1076T:p.A359V;DSC3:NM_024423:exon8:c.C1076T:p.A359V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.C1076T:p.A359V;ENSG00000134762:ENST00000434452:exon8:c.C1076T:p.A359V;	0.0161283734101551	0.068
18	28598633	G	C	18	31018667	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.C1076G:p.A359G;DSC3:NM_024423:exon8:c.C1076G:p.A359G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.C1076G:p.A359G;ENSG00000134762:ENST00000434452:exon8:c.C1076G:p.A359G;	0.00513284907914629	0.136
18	28598633	G	T	18	31018667	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.C1076A:p.A359D;DSC3:NM_024423:exon8:c.C1076A:p.A359D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.C1076A:p.A359D;ENSG00000134762:ENST00000434452:exon8:c.C1076A:p.A359D;	0.0011335137097985	0.104
18	28598634	C	A	18	31018668	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.G1075T:p.A359S;DSC3:NM_024423:exon8:c.G1075T:p.A359S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.G1075T:p.A359S;ENSG00000134762:ENST00000434452:exon8:c.G1075T:p.A359S;	4.64906632222324E-5	0.0
18	28598634	C	G	18	31018668	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.G1075C:p.A359P;DSC3:NM_024423:exon8:c.G1075C:p.A359P;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.G1075C:p.A359P;ENSG00000134762:ENST00000434452:exon8:c.G1075C:p.A359P;	3.53250747608549E-5	0.008
18	28598634	C	T	18	31018668	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.G1075A:p.A359T;DSC3:NM_024423:exon8:c.G1075A:p.A359T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.G1075A:p.A359T;ENSG00000134762:ENST00000434452:exon8:c.G1075A:p.A359T;	4.50447542189905E-5	0.026
18	28598765	A	C	18	31018799	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.T944G:p.V315G;DSC3:NM_024423:exon8:c.T944G:p.V315G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.T944G:p.V315G;ENSG00000134762:ENST00000434452:exon8:c.T944G:p.V315G;	5.82158533349329E-5	0.0
18	28598765	A	G	18	31018799	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.T944C:p.V315A;DSC3:NM_024423:exon8:c.T944C:p.V315A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.T944C:p.V315A;ENSG00000134762:ENST00000434452:exon8:c.T944C:p.V315A;	8.07485798820722E-5	0.008
18	28598765	A	T	18	31018799	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.T944A:p.V315D;DSC3:NM_024423:exon8:c.T944A:p.V315D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.T944A:p.V315D;ENSG00000134762:ENST00000434452:exon8:c.T944A:p.V315D;	1.07148565447027E-4	0.0
18	28598766	C	A	18	31018800	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.G943T:p.V315F;DSC3:NM_024423:exon8:c.G943T:p.V315F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.G943T:p.V315F;ENSG00000134762:ENST00000434452:exon8:c.G943T:p.V315F;	0.454013459357811	0.572
18	28598766	C	G	18	31018800	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.G943C:p.V315L;DSC3:NM_024423:exon8:c.G943C:p.V315L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.G943C:p.V315L;ENSG00000134762:ENST00000434452:exon8:c.G943C:p.V315L;	0.0736306872123589	0.364
18	28598766	C	T	18	31018800	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon8:c.G943A:p.V315I;DSC3:NM_024423:exon8:c.G943A:p.V315I;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon8:c.G943A:p.V315I;ENSG00000134762:ENST00000434452:exon8:c.G943A:p.V315I;	0.00402488575468573	0.166
18	28598767	C	A	18	31018801	y	y	splicing	DSC3(NM_001941:exon9:c.943-1G>T;NM_024423:exon9:c.943-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.943-1G>T;ENST00000434452:exon9:c.943-1G>T)	.	.	0.999989072007339	0.934
18	28598767	C	G	18	31018801	y	y	splicing	DSC3(NM_001941:exon9:c.943-1G>C;NM_024423:exon9:c.943-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.943-1G>C;ENST00000434452:exon9:c.943-1G>C)	.	.	0.999989072007339	0.934
18	28598767	C	T	18	31018801	y	y	splicing	DSC3(NM_001941:exon9:c.943-1G>A;NM_024423:exon9:c.943-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.943-1G>A;ENST00000434452:exon9:c.943-1G>A)	.	.	0.999989072007339	0.934
18	28598768	T	A	18	31018802	y	y	splicing	DSC3(NM_001941:exon9:c.943-2A>T;NM_024423:exon9:c.943-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.943-2A>T;ENST00000434452:exon9:c.943-2A>T)	.	.	0.999988247793601	0.93
18	28598768	T	C	18	31018802	y	y	splicing	DSC3(NM_001941:exon9:c.943-2A>G;NM_024423:exon9:c.943-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.943-2A>G;ENST00000434452:exon9:c.943-2A>G)	.	.	0.999988247793601	0.928
18	28598768	T	G	18	31018802	y	y	splicing	DSC3(NM_001941:exon9:c.943-2A>C;NM_024423:exon9:c.943-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon9:c.943-2A>C;ENST00000434452:exon9:c.943-2A>C)	.	.	0.999988247793601	0.928
18	28598769	G	A	18	31018803	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00209170299000759	0.15
18	28598769	G	C	18	31018803	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.978632564827035	0.884
18	28598769	G	T	18	31018803	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.206018143352599	0.316
18	28598770	G	A	18	31018804	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.37288986200821E-5	0.002
18	28598770	G	C	18	31018804	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.65798802491626E-5	0.0
18	28598770	G	T	18	31018804	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.5089903023348E-4	0.002
18	28598771	A	C	18	31018805	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.548395430832383	0.36
18	28598771	A	G	18	31018805	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.06074918852233E-4	0.014
18	28598771	A	T	18	31018805	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.653528235494188	0.354
18	28598772	A	C	18	31018806	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0885561680319883	0.2
18	28598772	A	G	18	31018806	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.21392043479443E-5	0.002
18	28598772	A	T	18	31018806	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.168818658313355	0.182
18	28598773	A	C	18	31018807	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0170666160904503	0.112
18	28598773	A	G	18	31018807	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.27904255468383E-5	0.002
18	28598773	A	T	18	31018807	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0510887516548293	0.226
18	28598774	C	A	18	31018808	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.69390016086687E-5	0.002
18	28598774	C	G	18	31018808	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.15837306421052E-4	0.008
18	28598774	C	T	18	31018808	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.66380235545002E-4	0.028
18	28598775	A	C	18	31018809	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.996909110276287	0.798
18	28598775	A	G	18	31018809	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.302768165250581	0.42
18	28598775	A	T	18	31018809	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99991619958652	0.95
18	28598776	A	C	18	31018810	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.570429981808344	0.48
18	28598776	A	G	18	31018810	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0010023525801575	0.026
18	28598776	A	T	18	31018810	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.776766156872421	0.54
18	28598777	A	C	18	31018811	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.36072663019675	0.472
18	28598777	A	G	18	31018811	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0528767194918352	0.156
18	28598777	A	T	18	31018811	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.666539060484998	0.57
18	28598778	G	A	18	31018812	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.18050889873754E-4	0.0
18	28598778	G	C	18	31018812	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.91336882332409E-4	0.024
18	28598778	G	T	18	31018812	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.22378269331408E-4	0.072
18	28602294	T	A	18	31022328	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.27505293117029E-5	0.0
18	28602294	T	C	18	31022328	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.66858074831081E-4	0.006
18	28602294	T	G	18	31022328	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.27505293117029E-5	0.0
18	28602295	G	A	18	31022329	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.62042876665377E-5	0.004
18	28602295	G	C	18	31022329	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.27066921363484E-4	0.02
18	28602295	G	T	18	31022329	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.62042876665377E-5	0.004
18	28602296	A	C	18	31022330	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00414327892439512	0.182
18	28602296	A	G	18	31022330	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00831559466500871	0.37
18	28602296	A	T	18	31022330	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0371112111680866	0.212
18	28602297	G	A	18	31022331	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.03431207476739E-4	0.0
18	28602297	G	C	18	31022331	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.43715198501765E-4	0.01
18	28602297	G	T	18	31022331	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.8260752590028E-5	0.008
18	28602298	C	A	18	31022332	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.83297371840489E-4	0.024
18	28602298	C	G	18	31022332	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.20129950510704E-4	0.12
18	28602298	C	T	18	31022332	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.51525532796419E-4	0.06
18	28602299	T	A	18	31022333	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999921442749026	0.964
18	28602299	T	C	18	31022333	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99836188741066	0.802
18	28602299	T	G	18	31022333	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999926909170449	0.938
18	28602300	A	C	18	31022334	y	y	splicing	DSC3(NM_001941:exon8:c.942+2T>G;NM_024423:exon8:c.942+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.942+2T>G;ENST00000434452:exon8:c.942+2T>G)	.	.	0.999988247793601	0.916
18	28602300	A	G	18	31022334	y	y	splicing	DSC3(NM_001941:exon8:c.942+2T>C;NM_024423:exon8:c.942+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.942+2T>C;ENST00000434452:exon8:c.942+2T>C)	.	.	0.992783534660112	0.656
18	28602300	A	T	18	31022334	y	y	splicing	DSC3(NM_001941:exon8:c.942+2T>A;NM_024423:exon8:c.942+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.942+2T>A;ENST00000434452:exon8:c.942+2T>A)	.	.	0.999988247793601	0.916
18	28602301	C	A	18	31022335	y	y	splicing	DSC3(NM_001941:exon8:c.942+1G>T;NM_024423:exon8:c.942+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.942+1G>T;ENST00000434452:exon8:c.942+1G>T)	.	.	0.999985532734767	0.93
18	28602301	C	G	18	31022335	y	y	splicing	DSC3(NM_001941:exon8:c.942+1G>C;NM_024423:exon8:c.942+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.942+1G>C;ENST00000434452:exon8:c.942+1G>C)	.	.	0.999985532734767	0.928
18	28602301	C	T	18	31022335	y	y	splicing	DSC3(NM_001941:exon8:c.942+1G>A;NM_024423:exon8:c.942+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.942+1G>A;ENST00000434452:exon8:c.942+1G>A)	.	.	0.999985532734767	0.93
18	28602302	C	A	18	31022336	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.G942T:p.E314D;DSC3:NM_024423:exon7:c.G942T:p.E314D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.G942T:p.E314D;ENSG00000134762:ENST00000434452:exon7:c.G942T:p.E314D;	0.999993897737969	0.992
18	28602302	C	G	18	31022336	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.G942C:p.E314D;DSC3:NM_024423:exon7:c.G942C:p.E314D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.G942C:p.E314D;ENSG00000134762:ENST00000434452:exon7:c.G942C:p.E314D;	0.999997787687999	0.998
18	28602302	C	T	18	31022336	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon7:c.G942A:p.E314E;DSC3:NM_024423:exon7:c.G942A:p.E314E;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.G942A:p.E314E;ENSG00000134762:ENST00000434452:exon7:c.G942A:p.E314E;	0.999993758148701	0.998
18	28602303	T	A	18	31022337	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.A941T:p.E314V;DSC3:NM_024423:exon7:c.A941T:p.E314V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.A941T:p.E314V;ENSG00000134762:ENST00000434452:exon7:c.A941T:p.E314V;	0.999979787756726	1.0
18	28602303	T	C	18	31022337	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.A941G:p.E314G;DSC3:NM_024423:exon7:c.A941G:p.E314G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.A941G:p.E314G;ENSG00000134762:ENST00000434452:exon7:c.A941G:p.E314G;	0.999976470964803	0.998
18	28602303	T	G	18	31022337	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.A941C:p.E314A;DSC3:NM_024423:exon7:c.A941C:p.E314A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.A941C:p.E314A;ENSG00000134762:ENST00000434452:exon7:c.A941C:p.E314A;	0.999959583188391	0.998
18	28602304	C	A	18	31022338	y	y	exonic	DSC3	stopgain SNV	DSC3:NM_001941:exon7:c.G940T:p.E314X;DSC3:NM_024423:exon7:c.G940T:p.E314X;	exonic	ENSG00000134762	stopgain SNV	ENSG00000134762:ENST00000360428:exon7:c.G940T:p.E314X;ENSG00000134762:ENST00000434452:exon7:c.G940T:p.E314X;	0.993296293312765	0.824
18	28602304	C	G	18	31022338	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.G940C:p.E314Q;DSC3:NM_024423:exon7:c.G940C:p.E314Q;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.G940C:p.E314Q;ENSG00000134762:ENST00000434452:exon7:c.G940C:p.E314Q;	0.922485189194405	0.78
18	28602304	C	T	18	31022338	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.G940A:p.E314K;DSC3:NM_024423:exon7:c.G940A:p.E314K;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.G940A:p.E314K;ENSG00000134762:ENST00000434452:exon7:c.G940A:p.E314K;	0.943839592290549	0.82
18	28602467	A	C	18	31022501	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon7:c.T777G:p.G259G;DSC3:NM_024423:exon7:c.T777G:p.G259G;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.T777G:p.G259G;ENSG00000134762:ENST00000434452:exon7:c.T777G:p.G259G;	2.91495662496921E-4	0.014
18	28602467	A	G	18	31022501	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon7:c.T777C:p.G259G;DSC3:NM_024423:exon7:c.T777C:p.G259G;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.T777C:p.G259G;ENSG00000134762:ENST00000434452:exon7:c.T777C:p.G259G;	8.39359785829931E-5	0.01
18	28602467	A	T	18	31022501	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon7:c.T777A:p.G259G;DSC3:NM_024423:exon7:c.T777A:p.G259G;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.T777A:p.G259G;ENSG00000134762:ENST00000434452:exon7:c.T777A:p.G259G;	4.74301275392029E-5	0.02
18	28602468	C	A	18	31022502	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.G776T:p.G259V;DSC3:NM_024423:exon7:c.G776T:p.G259V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.G776T:p.G259V;ENSG00000134762:ENST00000434452:exon7:c.G776T:p.G259V;	0.999883339117794	1.0
18	28602468	C	G	18	31022502	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.G776C:p.G259A;DSC3:NM_024423:exon7:c.G776C:p.G259A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.G776C:p.G259A;ENSG00000134762:ENST00000434452:exon7:c.G776C:p.G259A;	0.999767678751905	0.982
18	28602468	C	T	18	31022502	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon7:c.G776A:p.G259D;DSC3:NM_024423:exon7:c.G776A:p.G259D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon7:c.G776A:p.G259D;ENSG00000134762:ENST00000434452:exon7:c.G776A:p.G259D;	0.999749895026321	0.866
18	28602469	C	A	18	31022503	y	y	splicing	DSC3(NM_001941:exon8:c.776-1G>T;NM_024423:exon8:c.776-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.776-1G>T;ENST00000434452:exon8:c.776-1G>T)	.	.	0.999933757597683	0.944
18	28602469	C	G	18	31022503	y	y	splicing	DSC3(NM_001941:exon8:c.776-1G>C;NM_024423:exon8:c.776-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.776-1G>C;ENST00000434452:exon8:c.776-1G>C)	.	.	0.999933757597683	0.938
18	28602469	C	T	18	31022503	y	y	splicing	DSC3(NM_001941:exon8:c.776-1G>A;NM_024423:exon8:c.776-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.776-1G>A;ENST00000434452:exon8:c.776-1G>A)	.	.	0.999933757597683	0.946
18	28602470	T	A	18	31022504	y	y	splicing	DSC3(NM_001941:exon8:c.776-2A>T;NM_024423:exon8:c.776-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.776-2A>T;ENST00000434452:exon8:c.776-2A>T)	.	.	0.999964896440643	0.934
18	28602470	T	C	18	31022504	y	y	splicing	DSC3(NM_001941:exon8:c.776-2A>G;NM_024423:exon8:c.776-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.776-2A>G;ENST00000434452:exon8:c.776-2A>G)	.	.	0.999951957019574	0.892
18	28602470	T	G	18	31022504	y	y	splicing	DSC3(NM_001941:exon8:c.776-2A>C;NM_024423:exon8:c.776-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon8:c.776-2A>C;ENST00000434452:exon8:c.776-2A>C)	.	.	0.999951957019574	0.894
18	28602471	A	C	18	31022505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.877948890342545	0.644
18	28602471	A	G	18	31022505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.54336229267616E-5	0.01
18	28602471	A	T	18	31022505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00104934638343759	0.156
18	28602472	C	A	18	31022506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.7370795424498E-5	0.0
18	28602472	C	G	18	31022506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.68393606606014E-5	0.0
18	28602472	C	T	18	31022506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.73822240988754E-5	0.002
18	28602473	A	C	18	31022507	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0417096733454875	0.332
18	28602473	A	G	18	31022507	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.50002130832197E-4	0.002
18	28602473	A	T	18	31022507	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.990468669820716	0.872
18	28602474	C	A	18	31022508	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.34580010855057E-5	0.018
18	28602474	C	G	18	31022508	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.02754041143724E-5	0.006
18	28602474	C	T	18	31022508	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.39700724111021E-5	0.002
18	28602475	A	C	18	31022509	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999862856019454	0.988
18	28602475	A	G	18	31022509	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.53494123494201E-5	0.008
18	28602475	A	T	18	31022509	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999562786036555	0.982
18	28602476	T	A	18	31022510	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.89256161390015E-5	0.0
18	28602476	T	C	18	31022510	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998330824993419	0.978
18	28602476	T	G	18	31022510	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.3901729236651E-4	0.0
18	28602477	T	A	18	31022511	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.15323110004108E-4	0.014
18	28602477	T	C	18	31022511	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.24173267855338E-5	0.004
18	28602477	T	G	18	31022511	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.64777421377541E-5	0.0
18	28602478	A	C	18	31022512	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0015024454844451	0.146
18	28602478	A	G	18	31022512	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.05442144519537E-5	0.012
18	28602478	A	T	18	31022512	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.25034500386594E-4	0.128
18	28602479	A	C	18	31022513	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.119520527155331	0.472
18	28602479	A	G	18	31022513	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.76584127554602E-4	0.162
18	28602479	A	T	18	31022513	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.340668392254065	0.484
18	28602480	A	C	18	31022514	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00213231676873822	0.19
18	28602480	A	G	18	31022514	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.63638623121347E-5	0.002
18	28602480	A	T	18	31022514	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00156430223258821	0.174
18	28604307	A	C	18	31024341	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.19578563224042E-4	0.0
18	28604307	A	G	18	31024341	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.07548002777155E-4	0.0
18	28604307	A	T	18	31024341	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.18444143873978E-4	0.0
18	28604308	G	A	18	31024342	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.01298255262944E-4	0.056
18	28604308	G	C	18	31024342	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.62931368631205E-5	0.01
18	28604308	G	T	18	31024342	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.75123824698313E-5	0.03
18	28604309	A	C	18	31024343	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00110537720542683	0.146
18	28604309	A	G	18	31024343	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00854848503200608	0.19
18	28604309	A	T	18	31024343	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0084325356726259	0.22
18	28604310	C	A	18	31024344	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999576385837025	0.896
18	28604310	C	G	18	31024344	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999187109929335	0.818
18	28604310	C	T	18	31024344	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999491846423673	0.902
18	28604311	T	A	18	31024345	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.821075320470185	0.582
18	28604311	T	C	18	31024345	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.911123299815094	0.548
18	28604311	T	G	18	31024345	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.549014976868578	0.526
18	28604312	T	A	18	31024346	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.980276356525603	0.666
18	28604312	T	C	18	31024346	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0104994524689838	0.116
18	28604312	T	G	18	31024346	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.989260923100456	0.76
18	28604313	A	C	18	31024347	y	y	splicing	DSC3(NM_001941:exon7:c.775+2T>G;NM_024423:exon7:c.775+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.775+2T>G;ENST00000434452:exon7:c.775+2T>G)	.	.	0.999988247793601	0.916
18	28604313	A	G	18	31024347	y	y	splicing	DSC3(NM_001941:exon7:c.775+2T>C;NM_024423:exon7:c.775+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.775+2T>C;ENST00000434452:exon7:c.775+2T>C)	.	.	0.98918007292081	0.664
18	28604313	A	T	18	31024347	y	y	splicing	DSC3(NM_001941:exon7:c.775+2T>A;NM_024423:exon7:c.775+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.775+2T>A;ENST00000434452:exon7:c.775+2T>A)	.	.	0.999988247793601	0.928
18	28604314	C	A	18	31024348	y	y	splicing	DSC3(NM_001941:exon7:c.775+1G>T;NM_024423:exon7:c.775+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.775+1G>T;ENST00000434452:exon7:c.775+1G>T)	.	.	0.999990361384395	0.936
18	28604314	C	G	18	31024348	y	y	splicing	DSC3(NM_001941:exon7:c.775+1G>C;NM_024423:exon7:c.775+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.775+1G>C;ENST00000434452:exon7:c.775+1G>C)	.	.	0.999990361384395	0.936
18	28604314	C	T	18	31024348	y	y	splicing	DSC3(NM_001941:exon7:c.775+1G>A;NM_024423:exon7:c.775+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.775+1G>A;ENST00000434452:exon7:c.775+1G>A)	.	.	0.999990361384395	0.936
18	28604315	C	A	18	31024349	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.G775T:p.G259C;DSC3:NM_024423:exon6:c.G775T:p.G259C;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.G775T:p.G259C;ENSG00000134762:ENST00000434452:exon6:c.G775T:p.G259C;	0.999714981516505	0.916
18	28604315	C	G	18	31024349	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.G775C:p.G259R;DSC3:NM_024423:exon6:c.G775C:p.G259R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.G775C:p.G259R;ENSG00000134762:ENST00000434452:exon6:c.G775C:p.G259R;	0.999833275178825	0.892
18	28604315	C	T	18	31024349	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.G775A:p.G259S;DSC3:NM_024423:exon6:c.G775A:p.G259S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.G775A:p.G259S;ENSG00000134762:ENST00000434452:exon6:c.G775A:p.G259S;	0.998733537252808	0.858
18	28604316	A	C	18	31024350	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon6:c.T774G:p.P258P;DSC3:NM_024423:exon6:c.T774G:p.P258P;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.T774G:p.P258P;ENSG00000134762:ENST00000434452:exon6:c.T774G:p.P258P;	2.15496543706878E-4	0.05
18	28604316	A	G	18	31024350	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon6:c.T774C:p.P258P;DSC3:NM_024423:exon6:c.T774C:p.P258P;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.T774C:p.P258P;ENSG00000134762:ENST00000434452:exon6:c.T774C:p.P258P;	1.17006007917076E-4	0.098
18	28604316	A	T	18	31024350	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon6:c.T774A:p.P258P;DSC3:NM_024423:exon6:c.T774A:p.P258P;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.T774A:p.P258P;ENSG00000134762:ENST00000434452:exon6:c.T774A:p.P258P;	5.91463641349023E-5	0.074
18	28604317	G	A	18	31024351	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.C773T:p.P258L;DSC3:NM_024423:exon6:c.C773T:p.P258L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.C773T:p.P258L;ENSG00000134762:ENST00000434452:exon6:c.C773T:p.P258L;	6.20569642593932E-4	0.114
18	28604317	G	C	18	31024351	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.C773G:p.P258R;DSC3:NM_024423:exon6:c.C773G:p.P258R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.C773G:p.P258R;ENSG00000134762:ENST00000434452:exon6:c.C773G:p.P258R;	9.49987008426039E-5	0.024
18	28604317	G	T	18	31024351	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.C773A:p.P258H;DSC3:NM_024423:exon6:c.C773A:p.P258H;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.C773A:p.P258H;ENSG00000134762:ENST00000434452:exon6:c.C773A:p.P258H;	5.07014447628644E-5	0.026
18	28604458	A	C	18	31024492	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.T632G:p.L211W;DSC3:NM_024423:exon6:c.T632G:p.L211W;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.T632G:p.L211W;ENSG00000134762:ENST00000434452:exon6:c.T632G:p.L211W;	0.323081428452464	0.516
18	28604458	A	G	18	31024492	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.T632C:p.L211S;DSC3:NM_024423:exon6:c.T632C:p.L211S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.T632C:p.L211S;ENSG00000134762:ENST00000434452:exon6:c.T632C:p.L211S;	0.196266695209019	0.452
18	28604458	A	T	18	31024492	y	y	exonic	DSC3	stopgain SNV	DSC3:NM_001941:exon6:c.T632A:p.L211X;DSC3:NM_024423:exon6:c.T632A:p.L211X;	exonic	ENSG00000134762	stopgain SNV	ENSG00000134762:ENST00000360428:exon6:c.T632A:p.L211X;ENSG00000134762:ENST00000434452:exon6:c.T632A:p.L211X;	0.466776455184217	0.66
18	28604459	A	C	18	31024493	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.T631G:p.L211V;DSC3:NM_024423:exon6:c.T631G:p.L211V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.T631G:p.L211V;ENSG00000134762:ENST00000434452:exon6:c.T631G:p.L211V;	3.44709908904298E-4	0.14
18	28604459	A	G	18	31024493	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon6:c.T631C:p.L211L;DSC3:NM_024423:exon6:c.T631C:p.L211L;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.T631C:p.L211L;ENSG00000134762:ENST00000434452:exon6:c.T631C:p.L211L;	5.7297295503805E-5	0.016
18	28604459	A	T	18	31024493	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon6:c.T631A:p.L211M;DSC3:NM_024423:exon6:c.T631A:p.L211M;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon6:c.T631A:p.L211M;ENSG00000134762:ENST00000434452:exon6:c.T631A:p.L211M;	0.0015104876206626	0.162
18	28604460	C	A	18	31024494	y	y	splicing	DSC3(NM_001941:exon7:c.631-1G>T;NM_024423:exon7:c.631-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.631-1G>T;ENST00000434452:exon7:c.631-1G>T)	.	.	0.999985532734767	0.936
18	28604460	C	G	18	31024494	y	y	splicing	DSC3(NM_001941:exon7:c.631-1G>C;NM_024423:exon7:c.631-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.631-1G>C;ENST00000434452:exon7:c.631-1G>C)	.	.	0.999985532734767	0.936
18	28604460	C	T	18	31024494	y	y	splicing	DSC3(NM_001941:exon7:c.631-1G>A;NM_024423:exon7:c.631-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.631-1G>A;ENST00000434452:exon7:c.631-1G>A)	.	.	0.999985532734767	0.936
18	28604461	T	A	18	31024495	y	y	splicing	DSC3(NM_001941:exon7:c.631-2A>T;NM_024423:exon7:c.631-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.631-2A>T;ENST00000434452:exon7:c.631-2A>T)	.	.	0.999978952611685	0.926
18	28604461	T	C	18	31024495	y	y	splicing	DSC3(NM_001941:exon7:c.631-2A>G;NM_024423:exon7:c.631-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.631-2A>G;ENST00000434452:exon7:c.631-2A>G)	.	.	0.999978952611685	0.928
18	28604461	T	G	18	31024495	y	y	splicing	DSC3(NM_001941:exon7:c.631-2A>C;NM_024423:exon7:c.631-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon7:c.631-2A>C;ENST00000434452:exon7:c.631-2A>C)	.	.	0.999978952611685	0.928
18	28604462	G	A	18	31024496	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.84898345061039E-4	0.088
18	28604462	G	C	18	31024496	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999847131255593	0.912
18	28604462	G	T	18	31024496	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.918092112664919	0.576
18	28604463	C	A	18	31024497	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.42615881489562E-5	0.0
18	28604463	C	G	18	31024497	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.67541668417334E-5	0.002
18	28604463	C	T	18	31024497	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.93961574079172E-5	0.0
18	28604464	A	C	18	31024498	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.763662164674303	0.474
18	28604464	A	G	18	31024498	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.72399003440431E-4	0.024
18	28604464	A	T	18	31024498	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99978517912371	0.942
18	28604465	A	C	18	31024499	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.665191983377965	0.614
18	28604465	A	G	18	31024499	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.60652686794524E-4	0.02
18	28604465	A	T	18	31024499	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.85507813006562	0.678
18	28604466	A	C	18	31024500	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0236724807248647	0.21
18	28604466	A	G	18	31024500	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.44569882827234E-5	0.002
18	28604466	A	T	18	31024500	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0270075016987909	0.216
18	28604467	A	C	18	31024501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.987517906407911	0.964
18	28604467	A	G	18	31024501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.71875937682267E-5	0.0
18	28604467	A	T	18	31024501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0010729989860262	0.044
18	28604468	T	A	18	31024502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.76445557912159E-5	0.002
18	28604468	T	C	18	31024502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.83235641599501E-5	0.0
18	28604468	T	G	18	31024502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.14954686760222E-5	0.0
18	28604469	A	C	18	31024503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.533438511557429	0.482
18	28604469	A	G	18	31024503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00133260984027972	0.044
18	28604469	A	T	18	31024503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.455182951199277	0.534
18	28604470	G	A	18	31024504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00135302850306854	0.034
18	28604470	G	C	18	31024504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00752481821524825	0.142
18	28604470	G	T	18	31024504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0165966217527653	0.228
18	28604471	C	A	18	31024505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.04263076421826E-5	0.0
18	28604471	C	G	18	31024505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.84378804151425E-5	0.0
18	28604471	C	T	18	31024505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.01986334150122E-4	0.0
18	28605718	A	C	18	31025752	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.47827434508859E-4	0.06
18	28605718	A	G	18	31025752	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.18710196938815E-4	0.002
18	28605718	A	T	18	31025752	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.48917312778431E-4	0.074
18	28605719	G	A	18	31025753	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.86396758394583E-5	0.006
18	28605719	G	C	18	31025753	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.08846069933394E-5	0.002
18	28605719	G	T	18	31025753	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.66142257390667E-4	0.004
18	28605720	T	A	18	31025754	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.32430473556147E-4	0.056
18	28605720	T	C	18	31025754	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.0077820758257E-4	0.03
18	28605720	T	G	18	31025754	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00124760277807254	0.162
18	28605721	C	A	18	31025755	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999962172018795	0.952
18	28605721	C	G	18	31025755	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999930713594905	0.954
18	28605721	C	T	18	31025755	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999962172018795	0.938
18	28605722	C	A	18	31025756	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.77030104680314E-4	0.172
18	28605722	C	G	18	31025756	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.49288985934874E-4	0.288
18	28605722	C	T	18	31025756	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.10875962295408E-4	0.046
18	28605723	T	A	18	31025757	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999462755890781	0.884
18	28605723	T	C	18	31025757	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.990061629946607	0.666
18	28605723	T	G	18	31025757	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999576224828657	0.872
18	28605724	A	C	18	31025758	y	y	splicing	DSC3(NM_001941:exon6:c.630+2T>G;NM_024423:exon6:c.630+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.630+2T>G;ENST00000434452:exon6:c.630+2T>G)	.	.	0.999952590261929	0.902
18	28605724	A	G	18	31025758	y	y	splicing	DSC3(NM_001941:exon6:c.630+2T>C;NM_024423:exon6:c.630+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.630+2T>C;ENST00000434452:exon6:c.630+2T>C)	.	.	0.925923429275931	0.576
18	28605724	A	T	18	31025758	y	y	splicing	DSC3(NM_001941:exon6:c.630+2T>A;NM_024423:exon6:c.630+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.630+2T>A;ENST00000434452:exon6:c.630+2T>A)	.	.	0.999952590261929	0.902
18	28605725	C	A	18	31025759	y	y	splicing	DSC3(NM_001941:exon6:c.630+1G>T;NM_024423:exon6:c.630+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.630+1G>T;ENST00000434452:exon6:c.630+1G>T)	.	.	0.999987863840286	0.904
18	28605725	C	G	18	31025759	y	y	splicing	DSC3(NM_001941:exon6:c.630+1G>C;NM_024423:exon6:c.630+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.630+1G>C;ENST00000434452:exon6:c.630+1G>C)	.	.	0.999987863840286	0.902
18	28605725	C	T	18	31025759	y	y	splicing	DSC3(NM_001941:exon6:c.630+1G>A;NM_024423:exon6:c.630+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.630+1G>A;ENST00000434452:exon6:c.630+1G>A)	.	.	0.999987863840286	0.904
18	28605726	A	C	18	31025760	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.T630G:p.D210E;DSC3:NM_024423:exon5:c.T630G:p.D210E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.T630G:p.D210E;ENSG00000134762:ENST00000434452:exon5:c.T630G:p.D210E;	1.69198621793609E-5	0.004
18	28605726	A	G	18	31025760	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon5:c.T630C:p.D210D;DSC3:NM_024423:exon5:c.T630C:p.D210D;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.T630C:p.D210D;ENSG00000134762:ENST00000434452:exon5:c.T630C:p.D210D;	1.67167354388164E-4	0.31
18	28605726	A	T	18	31025760	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.T630A:p.D210E;DSC3:NM_024423:exon5:c.T630A:p.D210E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.T630A:p.D210E;ENSG00000134762:ENST00000434452:exon5:c.T630A:p.D210E;	7.26656485523349E-6	0.022
18	28605727	T	A	18	31025761	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.A629T:p.D210V;DSC3:NM_024423:exon5:c.A629T:p.D210V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.A629T:p.D210V;ENSG00000134762:ENST00000434452:exon5:c.A629T:p.D210V;	0.996070741181774	0.82
18	28605727	T	C	18	31025761	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.A629G:p.D210G;DSC3:NM_024423:exon5:c.A629G:p.D210G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.A629G:p.D210G;ENSG00000134762:ENST00000434452:exon5:c.A629G:p.D210G;	0.995643339535555	0.794
18	28605727	T	G	18	31025761	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.A629C:p.D210A;DSC3:NM_024423:exon5:c.A629C:p.D210A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.A629C:p.D210A;ENSG00000134762:ENST00000434452:exon5:c.A629C:p.D210A;	0.992180593179442	0.866
18	28605728	C	A	18	31025762	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.G628T:p.D210Y;DSC3:NM_024423:exon5:c.G628T:p.D210Y;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.G628T:p.D210Y;ENSG00000134762:ENST00000434452:exon5:c.G628T:p.D210Y;	0.993051416516251	0.636
18	28605728	C	G	18	31025762	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.G628C:p.D210H;DSC3:NM_024423:exon5:c.G628C:p.D210H;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.G628C:p.D210H;ENSG00000134762:ENST00000434452:exon5:c.G628C:p.D210H;	0.336154467224809	0.518
18	28605728	C	T	18	31025762	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.G628A:p.D210N;DSC3:NM_024423:exon5:c.G628A:p.D210N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.G628A:p.D210N;ENSG00000134762:ENST00000434452:exon5:c.G628A:p.D210N;	0.00319556727244472	0.082
18	28605880	A	C	18	31025914	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.T476G:p.V159G;DSC3:NM_024423:exon5:c.T476G:p.V159G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.T476G:p.V159G;ENSG00000134762:ENST00000434452:exon5:c.T476G:p.V159G;	0.244392677283822	0.518
18	28605880	A	G	18	31025914	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.T476C:p.V159A;DSC3:NM_024423:exon5:c.T476C:p.V159A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.T476C:p.V159A;ENSG00000134762:ENST00000434452:exon5:c.T476C:p.V159A;	0.31220326061805	0.588
18	28605880	A	T	18	31025914	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.T476A:p.V159D;DSC3:NM_024423:exon5:c.T476A:p.V159D;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.T476A:p.V159D;ENSG00000134762:ENST00000434452:exon5:c.T476A:p.V159D;	0.314089526676119	0.522
18	28605881	C	A	18	31025915	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.G475T:p.V159F;DSC3:NM_024423:exon5:c.G475T:p.V159F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.G475T:p.V159F;ENSG00000134762:ENST00000434452:exon5:c.G475T:p.V159F;	0.999292527649942	0.794
18	28605881	C	G	18	31025915	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.G475C:p.V159L;DSC3:NM_024423:exon5:c.G475C:p.V159L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.G475C:p.V159L;ENSG00000134762:ENST00000434452:exon5:c.G475C:p.V159L;	0.883255978064074	0.65
18	28605881	C	T	18	31025915	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon5:c.G475A:p.V159I;DSC3:NM_024423:exon5:c.G475A:p.V159I;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon5:c.G475A:p.V159I;ENSG00000134762:ENST00000434452:exon5:c.G475A:p.V159I;	0.110152339883917	0.45
18	28605882	C	A	18	31025916	y	y	splicing	DSC3(NM_001941:exon6:c.475-1G>T;NM_024423:exon6:c.475-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.475-1G>T;ENST00000434452:exon6:c.475-1G>T)	.	.	0.999990361384395	0.936
18	28605882	C	G	18	31025916	y	y	splicing	DSC3(NM_001941:exon6:c.475-1G>C;NM_024423:exon6:c.475-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.475-1G>C;ENST00000434452:exon6:c.475-1G>C)	.	.	0.999990361384395	0.936
18	28605882	C	T	18	31025916	y	y	splicing	DSC3(NM_001941:exon6:c.475-1G>A;NM_024423:exon6:c.475-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.475-1G>A;ENST00000434452:exon6:c.475-1G>A)	.	.	0.999990361384395	0.936
18	28605883	T	A	18	31025917	y	y	splicing	DSC3(NM_001941:exon6:c.475-2A>T;NM_024423:exon6:c.475-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.475-2A>T;ENST00000434452:exon6:c.475-2A>T)	.	.	0.999988247793601	0.928
18	28605883	T	C	18	31025917	y	y	splicing	DSC3(NM_001941:exon6:c.475-2A>G;NM_024423:exon6:c.475-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.475-2A>G;ENST00000434452:exon6:c.475-2A>G)	.	.	0.999988247793601	0.928
18	28605883	T	G	18	31025917	y	y	splicing	DSC3(NM_001941:exon6:c.475-2A>C;NM_024423:exon6:c.475-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon6:c.475-2A>C;ENST00000434452:exon6:c.475-2A>C)	.	.	0.999988247793601	0.928
18	28605884	A	C	18	31025918	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.28373234891556	0.45
18	28605884	A	G	18	31025918	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.94536168329862E-5	0.0
18	28605884	A	T	18	31025918	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.24341461493755E-4	0.114
18	28605885	A	C	18	31025919	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.37281898892367E-4	0.014
18	28605885	A	G	18	31025919	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.42706040944788E-5	0.01
18	28605885	A	T	18	31025919	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.24490549607191E-4	0.01
18	28605886	A	C	18	31025920	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.95139420889572E-4	0.192
18	28605886	A	G	18	31025920	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.62692984267297E-4	0.152
18	28605886	A	T	18	31025920	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.74609378204301E-4	0.19
18	28605887	A	C	18	31025921	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.84749294880545E-4	0.104
18	28605887	A	G	18	31025921	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.46130116626173E-5	0.0
18	28605887	A	T	18	31025921	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.39766925189937E-4	0.044
18	28605888	G	A	18	31025922	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.90086840454555E-5	0.038
18	28605888	G	C	18	31025922	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998139314992458	0.932
18	28605888	G	T	18	31025922	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.65497168576064E-4	0.052
18	28605889	T	A	18	31025923	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.07629853734031E-5	0.006
18	28605889	T	C	18	31025923	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.69439264402225E-5	0.002
18	28605889	T	G	18	31025923	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.55134678214908E-5	0.002
18	28605890	A	C	18	31025924	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.73980973895811E-5	0.052
18	28605890	A	G	18	31025924	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.3977072597324E-5	0.002
18	28605890	A	T	18	31025924	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.29254111381217E-5	0.028
18	28605891	G	A	18	31025925	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.18844764073394E-5	0.0
18	28605891	G	C	18	31025925	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.05461712908739E-5	0.024
18	28605891	G	T	18	31025925	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.72686968844303E-5	0.01
18	28605892	A	C	18	31025926	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.15368572389866E-4	0.074
18	28605892	A	G	18	31025926	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.67007462482685E-5	0.016
18	28605892	A	T	18	31025926	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.80334029306095E-4	0.164
18	28605893	A	C	18	31025927	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.23466929844845E-5	0.062
18	28605893	A	G	18	31025927	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.16887680177682E-5	0.004
18	28605893	A	T	18	31025927	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.96276053921249E-5	0.024
18	28609467	A	C	18	31029501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.75686177782044E-4	0.022
18	28609467	A	G	18	31029501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.74714960904026E-5	0.06
18	28609467	A	T	18	31029501	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.40841407051439E-4	0.024
18	28609468	A	C	18	31029502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.62810790007809E-5	0.0
18	28609468	A	G	18	31029502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.10909445624816E-4	0.0
18	28609468	A	T	18	31029502	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.63314535132891E-5	0.0
18	28609469	A	C	18	31029503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.510273358104876	0.506
18	28609469	A	G	18	31029503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.175659818541131	0.28
18	28609469	A	T	18	31029503	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.538225963485009	0.45
18	28609470	C	A	18	31029504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999942326486386	0.876
18	28609470	C	G	18	31029504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999965073075817	0.888
18	28609470	C	T	18	31029504	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99989970134568	0.832
18	28609471	C	A	18	31029505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.09865111331931E-5	0.002
18	28609471	C	G	18	31029505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.15305130331096E-5	0.02
18	28609471	C	T	18	31029505	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.39097563864425E-4	0.078
18	28609472	T	A	18	31029506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.997049655819285	0.948
18	28609472	T	C	18	31029506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.928009899991917	0.716
18	28609472	T	G	18	31029506	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999303297035388	0.93
18	28609473	A	C	18	31029507	y	y	splicing	DSC3(NM_001941:exon5:c.474+2T>G;NM_024423:exon5:c.474+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.474+2T>G;ENST00000434452:exon5:c.474+2T>G)	.	.	0.99994568797423	0.96
18	28609473	A	G	18	31029507	y	y	splicing	DSC3(NM_001941:exon5:c.474+2T>C;NM_024423:exon5:c.474+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.474+2T>C;ENST00000434452:exon5:c.474+2T>C)	.	.	0.965904012078529	0.746
18	28609473	A	T	18	31029507	y	y	splicing	DSC3(NM_001941:exon5:c.474+2T>A;NM_024423:exon5:c.474+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.474+2T>A;ENST00000434452:exon5:c.474+2T>A)	.	.	0.99994568797423	0.948
18	28609474	C	A	18	31029508	y	y	splicing	DSC3(NM_001941:exon5:c.474+1G>T;NM_024423:exon5:c.474+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.474+1G>T;ENST00000434452:exon5:c.474+1G>T)	.	.	0.99995545544995	0.94
18	28609474	C	G	18	31029508	y	y	splicing	DSC3(NM_001941:exon5:c.474+1G>C;NM_024423:exon5:c.474+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.474+1G>C;ENST00000434452:exon5:c.474+1G>C)	.	.	0.99995545544995	0.942
18	28609474	C	T	18	31029508	y	y	splicing	DSC3(NM_001941:exon5:c.474+1G>A;NM_024423:exon5:c.474+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.474+1G>A;ENST00000434452:exon5:c.474+1G>A)	.	.	0.99995545544995	0.942
18	28609475	T	A	18	31029509	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.A474T:p.Q158H;DSC3:NM_024423:exon4:c.A474T:p.Q158H;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.A474T:p.Q158H;ENSG00000134762:ENST00000434452:exon4:c.A474T:p.Q158H;	3.61447299328373E-4	0.188
18	28609475	T	C	18	31029509	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon4:c.A474G:p.Q158Q;DSC3:NM_024423:exon4:c.A474G:p.Q158Q;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.A474G:p.Q158Q;ENSG00000134762:ENST00000434452:exon4:c.A474G:p.Q158Q;	8.10377686592625E-5	0.032
18	28609475	T	G	18	31029509	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.A474C:p.Q158H;DSC3:NM_024423:exon4:c.A474C:p.Q158H;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.A474C:p.Q158H;ENSG00000134762:ENST00000434452:exon4:c.A474C:p.Q158H;	2.52721069747991E-5	0.064
18	28609476	T	A	18	31029510	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.A473T:p.Q158L;DSC3:NM_024423:exon4:c.A473T:p.Q158L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.A473T:p.Q158L;ENSG00000134762:ENST00000434452:exon4:c.A473T:p.Q158L;	0.999918226074098	1.0
18	28609476	T	C	18	31029510	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.A473G:p.Q158R;DSC3:NM_024423:exon4:c.A473G:p.Q158R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.A473G:p.Q158R;ENSG00000134762:ENST00000434452:exon4:c.A473G:p.Q158R;	0.999663230086397	0.986
18	28609476	T	G	18	31029510	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.A473C:p.Q158P;DSC3:NM_024423:exon4:c.A473C:p.Q158P;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.A473C:p.Q158P;ENSG00000134762:ENST00000434452:exon4:c.A473C:p.Q158P;	0.999830763060005	1.0
18	28609477	G	A	18	31029511	y	y	exonic	DSC3	stopgain SNV	DSC3:NM_001941:exon4:c.C472T:p.Q158X;DSC3:NM_024423:exon4:c.C472T:p.Q158X;	exonic	ENSG00000134762	stopgain SNV	ENSG00000134762:ENST00000360428:exon4:c.C472T:p.Q158X;ENSG00000134762:ENST00000434452:exon4:c.C472T:p.Q158X;	0.999901698413891	0.982
18	28609477	G	C	18	31029511	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.C472G:p.Q158E;DSC3:NM_024423:exon4:c.C472G:p.Q158E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.C472G:p.Q158E;ENSG00000134762:ENST00000434452:exon4:c.C472G:p.Q158E;	0.989474480748873	0.688
18	28609477	G	T	18	31029511	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.C472A:p.Q158K;DSC3:NM_024423:exon4:c.C472A:p.Q158K;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.C472A:p.Q158K;ENSG00000134762:ENST00000434452:exon4:c.C472A:p.Q158K;	0.949479818499897	0.744
18	28609593	A	C	18	31029627	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.T356G:p.V119G;DSC3:NM_024423:exon4:c.T356G:p.V119G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.T356G:p.V119G;ENSG00000134762:ENST00000434452:exon4:c.T356G:p.V119G;	0.0662753264351626	0.168
18	28609593	A	G	18	31029627	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.T356C:p.V119A;DSC3:NM_024423:exon4:c.T356C:p.V119A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.T356C:p.V119A;ENSG00000134762:ENST00000434452:exon4:c.T356C:p.V119A;	0.00758978855843243	0.194
18	28609593	A	T	18	31029627	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.T356A:p.V119E;DSC3:NM_024423:exon4:c.T356A:p.V119E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.T356A:p.V119E;ENSG00000134762:ENST00000434452:exon4:c.T356A:p.V119E;	0.00580525754449148	0.132
18	28609594	C	A	18	31029628	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.G355T:p.V119L;DSC3:NM_024423:exon4:c.G355T:p.V119L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.G355T:p.V119L;ENSG00000134762:ENST00000434452:exon4:c.G355T:p.V119L;	0.658694422782881	0.724
18	28609594	C	G	18	31029628	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.G355C:p.V119L;DSC3:NM_024423:exon4:c.G355C:p.V119L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.G355C:p.V119L;ENSG00000134762:ENST00000434452:exon4:c.G355C:p.V119L;	0.10420807407391	0.684
18	28609594	C	T	18	31029628	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon4:c.G355A:p.V119I;DSC3:NM_024423:exon4:c.G355A:p.V119I;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon4:c.G355A:p.V119I;ENSG00000134762:ENST00000434452:exon4:c.G355A:p.V119I;	0.0957771632773314	0.262
18	28609595	C	A	18	31029629	y	y	splicing	DSC3(NM_001941:exon5:c.355-1G>T;NM_024423:exon5:c.355-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.355-1G>T;ENST00000434452:exon5:c.355-1G>T)	.	.	0.999989072007339	0.944
18	28609595	C	G	18	31029629	y	y	splicing	DSC3(NM_001941:exon5:c.355-1G>C;NM_024423:exon5:c.355-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.355-1G>C;ENST00000434452:exon5:c.355-1G>C)	.	.	0.999989072007339	0.918
18	28609595	C	T	18	31029629	y	y	splicing	DSC3(NM_001941:exon5:c.355-1G>A;NM_024423:exon5:c.355-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.355-1G>A;ENST00000434452:exon5:c.355-1G>A)	.	.	0.999989072007339	0.944
18	28609596	T	A	18	31029630	y	y	splicing	DSC3(NM_001941:exon5:c.355-2A>T;NM_024423:exon5:c.355-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.355-2A>T;ENST00000434452:exon5:c.355-2A>T)	.	.	0.999988247793601	0.946
18	28609596	T	C	18	31029630	y	y	splicing	DSC3(NM_001941:exon5:c.355-2A>G;NM_024423:exon5:c.355-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.355-2A>G;ENST00000434452:exon5:c.355-2A>G)	.	.	0.999988247793601	0.946
18	28609596	T	G	18	31029630	y	y	splicing	DSC3(NM_001941:exon5:c.355-2A>C;NM_024423:exon5:c.355-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon5:c.355-2A>C;ENST00000434452:exon5:c.355-2A>C)	.	.	0.999988247793601	0.946
18	28609597	G	A	18	31029631	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00115534343093762	0.188
18	28609597	G	C	18	31029631	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999771328264824	0.93
18	28609597	G	T	18	31029631	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0557832437450501	0.44
18	28609598	A	C	18	31029632	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0010568722635582	0.046
18	28609598	A	G	18	31029632	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.33429246732811E-4	0.002
18	28609598	A	T	18	31029632	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.29126467033984E-4	0.002
18	28609599	A	C	18	31029633	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999853921319783	0.958
18	28609599	A	G	18	31029633	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0405705592646162	0.112
18	28609599	A	T	18	31029633	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.582862970830755	0.684
18	28609600	T	A	18	31029634	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.70052284464281E-4	0.008
18	28609600	T	C	18	31029634	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99855769328761	0.94
18	28609600	T	G	18	31029634	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.01466425393028E-4	0.002
18	28609601	T	A	18	31029635	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.07758023854284E-4	0.002
18	28609601	T	C	18	31029635	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999317145628897	0.942
18	28609601	T	G	18	31029635	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.13116725179902E-4	0.002
18	28609602	T	A	18	31029636	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.75397108823811E-5	0.006
18	28609602	T	C	18	31029636	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.27946525707199E-5	0.004
18	28609602	T	G	18	31029636	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.59901694539043E-5	0.006
18	28609603	A	C	18	31029637	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.489393331418232	0.622
18	28609603	A	G	18	31029637	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.29628019415723E-4	0.008
18	28609603	A	T	18	31029637	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.12958556943666	0.53
18	28609604	G	A	18	31029638	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.43874128857782E-4	0.002
18	28609604	G	C	18	31029638	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0562636660798063	0.144
18	28609604	G	T	18	31029638	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00905965944382512	0.084
18	28609605	A	C	18	31029639	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.967567388695311	0.872
18	28609605	A	G	18	31029639	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.425330223416267	0.338
18	28609605	A	T	18	31029639	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.983922287212408	0.872
18	28609606	G	A	18	31029640	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.76461524785294E-5	0.002
18	28609606	G	C	18	31029640	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	6.74897892544572E-4	0.128
18	28609606	G	T	18	31029640	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00103147039411426	0.106
18	28610931	T	A	18	31030965	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.365890034185E-5	0.0
18	28610931	T	C	18	31030965	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.00440110057484E-5	0.004
18	28610931	T	G	18	31030965	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.47390024423886E-5	0.004
18	28610932	T	A	18	31030966	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.06890037848452E-5	0.052
18	28610932	T	C	18	31030966	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.9196461109322E-5	0.046
18	28610932	T	G	18	31030966	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.39055527388402E-5	0.046
18	28610933	A	C	18	31030967	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.46622229289064E-4	0.156
18	28610933	A	G	18	31030967	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00274068374285578	0.172
18	28610933	A	T	18	31030967	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00392051359466434	0.094
18	28610934	A	C	18	31030968	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	7.23950210036594E-5	0.108
18	28610934	A	G	18	31030968	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.19608064337641E-5	0.002
18	28610934	A	T	18	31030968	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.75615176655297E-5	0.004
18	28610935	A	C	18	31030969	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.11735248851764E-4	0.006
18	28610935	A	G	18	31030969	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00110310393092957	0.042
18	28610935	A	T	18	31030969	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.48685263948016E-4	0.228
18	28610936	T	A	18	31030970	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998989945808183	0.896
18	28610936	T	C	18	31030970	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998885730242435	0.68
18	28610936	T	G	18	31030970	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999892262448498	0.9
18	28610937	A	C	18	31030971	y	y	splicing	DSC3(NM_001941:exon4:c.354+2T>G;NM_024423:exon4:c.354+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon4:c.354+2T>G;ENST00000434452:exon4:c.354+2T>G)	.	.	0.999962958601995	0.806
18	28610937	A	G	18	31030971	y	y	splicing	DSC3(NM_001941:exon4:c.354+2T>C;NM_024423:exon4:c.354+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon4:c.354+2T>C;ENST00000434452:exon4:c.354+2T>C)	.	.	0.915730966153794	0.548
18	28610937	A	T	18	31030971	y	y	splicing	DSC3(NM_001941:exon4:c.354+2T>A;NM_024423:exon4:c.354+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon4:c.354+2T>A;ENST00000434452:exon4:c.354+2T>A)	.	.	0.999962958601995	0.814
18	28610938	C	A	18	31030972	y	y	splicing	DSC3(NM_001941:exon4:c.354+1G>T;NM_024423:exon4:c.354+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon4:c.354+1G>T;ENST00000434452:exon4:c.354+1G>T)	.	.	0.999958003653399	0.842
18	28610938	C	G	18	31030972	y	y	splicing	DSC3(NM_001941:exon4:c.354+1G>C;NM_024423:exon4:c.354+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon4:c.354+1G>C;ENST00000434452:exon4:c.354+1G>C)	.	.	0.999958003653399	0.81
18	28610938	C	T	18	31030972	y	y	splicing	DSC3(NM_001941:exon4:c.354+1G>A;NM_024423:exon4:c.354+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon4:c.354+1G>A;ENST00000434452:exon4:c.354+1G>A)	.	.	0.999965661484771	0.854
18	28610939	C	A	18	31030973	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon3:c.G354T:p.K118N;DSC3:NM_024423:exon3:c.G354T:p.K118N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon3:c.G354T:p.K118N;ENSG00000134762:ENST00000434452:exon3:c.G354T:p.K118N;	0.999987714664896	0.978
18	28610939	C	G	18	31030973	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon3:c.G354C:p.K118N;DSC3:NM_024423:exon3:c.G354C:p.K118N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon3:c.G354C:p.K118N;ENSG00000134762:ENST00000434452:exon3:c.G354C:p.K118N;	0.99999499912701	0.928
18	28610939	C	T	18	31030973	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon3:c.G354A:p.K118K;DSC3:NM_024423:exon3:c.G354A:p.K118K;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon3:c.G354A:p.K118K;ENSG00000134762:ENST00000434452:exon3:c.G354A:p.K118K;	0.999984362958982	0.954
18	28610940	T	A	18	31030974	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon3:c.A353T:p.K118M;DSC3:NM_024423:exon3:c.A353T:p.K118M;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon3:c.A353T:p.K118M;ENSG00000134762:ENST00000434452:exon3:c.A353T:p.K118M;	0.945697293871943	0.704
18	28610940	T	C	18	31030974	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon3:c.A353G:p.K118R;DSC3:NM_024423:exon3:c.A353G:p.K118R;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon3:c.A353G:p.K118R;ENSG00000134762:ENST00000434452:exon3:c.A353G:p.K118R;	0.817120217804057	0.644
18	28610940	T	G	18	31030974	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon3:c.A353C:p.K118T;DSC3:NM_024423:exon3:c.A353C:p.K118T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon3:c.A353C:p.K118T;ENSG00000134762:ENST00000434452:exon3:c.A353C:p.K118T;	0.779394497659245	0.58
18	28610941	T	A	18	31030975	y	y	exonic	DSC3	stopgain SNV	DSC3:NM_001941:exon3:c.A352T:p.K118X;DSC3:NM_024423:exon3:c.A352T:p.K118X;	exonic	ENSG00000134762	stopgain SNV	ENSG00000134762:ENST00000360428:exon3:c.A352T:p.K118X;ENSG00000134762:ENST00000434452:exon3:c.A352T:p.K118X;	0.241002116499113	0.45
18	28610941	T	C	18	31030975	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon3:c.A352G:p.K118E;DSC3:NM_024423:exon3:c.A352G:p.K118E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon3:c.A352G:p.K118E;ENSG00000134762:ENST00000434452:exon3:c.A352G:p.K118E;	8.86540689290666E-5	0.0
18	28610941	T	G	18	31030975	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon3:c.A352C:p.K118Q;DSC3:NM_024423:exon3:c.A352C:p.K118Q;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon3:c.A352C:p.K118Q;ENSG00000134762:ENST00000434452:exon3:c.A352C:p.K118Q;	6.85231445366895E-6	0.0
18	28612150	T	A	18	31032184	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.15746552741366E-4	0.002
18	28612150	T	C	18	31032184	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.00370153794381E-4	0.002
18	28612150	T	G	18	31032184	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.2591670920413E-4	0.002
18	28612151	T	A	18	31032185	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00197688225574282	0.156
18	28612151	T	C	18	31032185	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.31665656585029E-4	0.042
18	28612151	T	G	18	31032185	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.10095386519008E-4	0.01
18	28612152	T	A	18	31032186	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.57724913204211E-4	0.046
18	28612152	T	C	18	31032186	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.03559335174648E-5	0.062
18	28612152	T	G	18	31032186	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.06482279450299E-4	0.07
18	28612153	C	A	18	31032187	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999427939488977	0.876
18	28612153	C	G	18	31032187	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999047829383484	0.82
18	28612153	C	T	18	31032187	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999532044673421	0.884
18	28612154	T	A	18	31032188	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.984852311501102	0.798
18	28612154	T	C	18	31032188	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.993064921332202	0.838
18	28612154	T	G	18	31032188	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.975144917197932	0.714
18	28612155	C	A	18	31032189	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.314912390942583	0.492
18	28612155	C	G	18	31032189	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0969397230289836	0.464
18	28612155	C	T	18	31032189	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.87259729633893E-5	0.018
18	28612156	A	C	18	31032190	y	y	splicing	DSC3(NM_001941:exon3:c.154+2T>G;NM_024423:exon3:c.154+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.154+2T>G;ENST00000434452:exon3:c.154+2T>G)	.	.	0.999988247793601	0.93
18	28612156	A	G	18	31032190	y	y	splicing	DSC3(NM_001941:exon3:c.154+2T>C;NM_024423:exon3:c.154+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.154+2T>C;ENST00000434452:exon3:c.154+2T>C)	.	.	0.999929727175276	0.87
18	28612156	A	T	18	31032190	y	y	splicing	DSC3(NM_001941:exon3:c.154+2T>A;NM_024423:exon3:c.154+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.154+2T>A;ENST00000434452:exon3:c.154+2T>A)	.	.	0.999988247793601	0.932
18	28612157	C	A	18	31032191	y	y	splicing	DSC3(NM_001941:exon3:c.154+1G>T;NM_024423:exon3:c.154+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.154+1G>T;ENST00000434452:exon3:c.154+1G>T)	.	.	0.999990361384395	0.938
18	28612157	C	G	18	31032191	y	y	splicing	DSC3(NM_001941:exon3:c.154+1G>C;NM_024423:exon3:c.154+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.154+1G>C;ENST00000434452:exon3:c.154+1G>C)	.	.	0.999990361384395	0.938
18	28612157	C	T	18	31032191	y	y	splicing	DSC3(NM_001941:exon3:c.154+1G>A;NM_024423:exon3:c.154+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.154+1G>A;ENST00000434452:exon3:c.154+1G>A)	.	.	0.999990361384395	0.938
18	28612158	C	A	18	31032192	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.G154T:p.V52F;DSC3:NM_024423:exon2:c.G154T:p.V52F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.G154T:p.V52F;ENSG00000134762:ENST00000434452:exon2:c.G154T:p.V52F;	0.999967157780928	0.962
18	28612158	C	G	18	31032192	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.G154C:p.V52L;DSC3:NM_024423:exon2:c.G154C:p.V52L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.G154C:p.V52L;ENSG00000134762:ENST00000434452:exon2:c.G154C:p.V52L;	0.999993141279875	1.0
18	28612158	C	T	18	31032192	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.G154A:p.V52I;DSC3:NM_024423:exon2:c.G154A:p.V52I;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.G154A:p.V52I;ENSG00000134762:ENST00000434452:exon2:c.G154A:p.V52I;	0.999979130338659	0.994
18	28612159	T	A	18	31032193	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.A153T:p.R51S;DSC3:NM_024423:exon2:c.A153T:p.R51S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.A153T:p.R51S;ENSG00000134762:ENST00000434452:exon2:c.A153T:p.R51S;	0.999823719208977	0.998
18	28612159	T	C	18	31032193	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon2:c.A153G:p.R51R;DSC3:NM_024423:exon2:c.A153G:p.R51R;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.A153G:p.R51R;ENSG00000134762:ENST00000434452:exon2:c.A153G:p.R51R;	0.999693598740607	0.996
18	28612159	T	G	18	31032193	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.A153C:p.R51S;DSC3:NM_024423:exon2:c.A153C:p.R51S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.A153C:p.R51S;ENSG00000134762:ENST00000434452:exon2:c.A153C:p.R51S;	0.999563791480673	0.974
18	28612160	C	A	18	31032194	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.G152T:p.R51I;DSC3:NM_024423:exon2:c.G152T:p.R51I;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.G152T:p.R51I;ENSG00000134762:ENST00000434452:exon2:c.G152T:p.R51I;	0.00107951369689643	0.156
18	28612160	C	G	18	31032194	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.G152C:p.R51T;DSC3:NM_024423:exon2:c.G152C:p.R51T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.G152C:p.R51T;ENSG00000134762:ENST00000434452:exon2:c.G152C:p.R51T;	1.98168953648958E-4	0.036
18	28612160	C	T	18	31032194	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.G152A:p.R51K;DSC3:NM_024423:exon2:c.G152A:p.R51K;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.G152A:p.R51K;ENSG00000134762:ENST00000434452:exon2:c.G152A:p.R51K;	1.11456046325517E-4	0.0
18	28612241	A	C	18	31032275	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.T71G:p.I24S;DSC3:NM_024423:exon2:c.T71G:p.I24S;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.T71G:p.I24S;ENSG00000134762:ENST00000434452:exon2:c.T71G:p.I24S;	0.00367277597520871	0.072
18	28612241	A	G	18	31032275	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.T71C:p.I24T;DSC3:NM_024423:exon2:c.T71C:p.I24T;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.T71C:p.I24T;ENSG00000134762:ENST00000434452:exon2:c.T71C:p.I24T;	0.00489478802909962	0.092
18	28612241	A	T	18	31032275	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.T71A:p.I24N;DSC3:NM_024423:exon2:c.T71A:p.I24N;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.T71A:p.I24N;ENSG00000134762:ENST00000434452:exon2:c.T71A:p.I24N;	0.024013800254557	0.13
18	28612242	T	A	18	31032276	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.A70T:p.I24F;DSC3:NM_024423:exon2:c.A70T:p.I24F;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.A70T:p.I24F;ENSG00000134762:ENST00000434452:exon2:c.A70T:p.I24F;	0.00237177674504615	0.096
18	28612242	T	C	18	31032276	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.A70G:p.I24V;DSC3:NM_024423:exon2:c.A70G:p.I24V;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.A70G:p.I24V;ENSG00000134762:ENST00000434452:exon2:c.A70G:p.I24V;	1.52501713741872E-5	0.01
18	28612242	T	G	18	31032276	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon2:c.A70C:p.I24L;DSC3:NM_024423:exon2:c.A70C:p.I24L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon2:c.A70C:p.I24L;ENSG00000134762:ENST00000434452:exon2:c.A70C:p.I24L;	7.77669924086691E-4	0.104
18	28612243	C	A	18	31032277	y	y	splicing	DSC3(NM_001941:exon3:c.70-1G>T;NM_024423:exon3:c.70-1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.70-1G>T;ENST00000434452:exon3:c.70-1G>T)	.	.	0.999990361384395	0.948
18	28612243	C	G	18	31032277	y	y	splicing	DSC3(NM_001941:exon3:c.70-1G>C;NM_024423:exon3:c.70-1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.70-1G>C;ENST00000434452:exon3:c.70-1G>C)	.	.	0.999990361384395	0.948
18	28612243	C	T	18	31032277	y	y	splicing	DSC3(NM_001941:exon3:c.70-1G>A;NM_024423:exon3:c.70-1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.70-1G>A;ENST00000434452:exon3:c.70-1G>A)	.	.	0.999990361384395	0.948
18	28612244	T	A	18	31032278	y	y	splicing	DSC3(NM_001941:exon3:c.70-2A>T;NM_024423:exon3:c.70-2A>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.70-2A>T;ENST00000434452:exon3:c.70-2A>T)	.	.	0.999988247793601	0.946
18	28612244	T	C	18	31032278	y	y	splicing	DSC3(NM_001941:exon3:c.70-2A>G;NM_024423:exon3:c.70-2A>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.70-2A>G;ENST00000434452:exon3:c.70-2A>G)	.	.	0.999988247793601	0.946
18	28612244	T	G	18	31032278	y	y	splicing	DSC3(NM_001941:exon3:c.70-2A>C;NM_024423:exon3:c.70-2A>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon3:c.70-2A>C;ENST00000434452:exon3:c.70-2A>C)	.	.	0.999988247793601	0.946
18	28612245	A	C	18	31032279	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.855900105032736	0.716
18	28612245	A	G	18	31032279	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.26546100569823E-5	0.028
18	28612245	A	T	18	31032279	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.128355572411995	0.368
18	28612246	G	A	18	31032280	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.51615485901658E-5	0.008
18	28612246	G	C	18	31032280	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	9.24007528577543E-4	0.076
18	28612246	G	T	18	31032280	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.00912685207378E-4	0.052
18	28612247	A	C	18	31032281	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.987653065921175	0.902
18	28612247	A	G	18	31032281	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.293174291663644	0.23
18	28612247	A	T	18	31032281	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.996311131413576	0.916
18	28612248	A	C	18	31032282	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999890677427319	0.958
18	28612248	A	G	18	31032282	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00162335062828122	0.048
18	28612248	A	T	18	31032282	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.432844499621062	0.668
18	28612249	T	A	18	31032283	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.83569673495426E-4	0.018
18	28612249	T	C	18	31032283	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.99890348348655	0.958
18	28612249	T	G	18	31032283	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.68536217611499E-4	0.01
18	28612250	T	A	18	31032284	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.14246426467516E-4	0.006
18	28612250	T	C	18	31032284	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.998826744229283	0.988
18	28612250	T	G	18	31032284	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.73587264425306E-4	0.006
18	28612251	T	A	18	31032285	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.95339444519528E-5	0.006
18	28612251	T	C	18	31032285	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.72424652370406E-5	0.016
18	28612251	T	G	18	31032285	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.06789278113015E-5	0.0
18	28612252	A	C	18	31032286	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.794297674088347	0.656
18	28612252	A	G	18	31032286	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0209391116043519	0.176
18	28612252	A	T	18	31032286	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.700348443386689	0.576
18	28612253	A	C	18	31032287	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.970547152207229	0.83
18	28612253	A	G	18	31032287	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.449938722587652	0.454
18	28612253	A	T	18	31032287	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.997656576255111	0.88
18	28612254	A	C	18	31032288	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0693731625190398	0.474
18	28612254	A	G	18	31032288	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.00239541368844741	0.11
18	28612254	A	T	18	31032288	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0258062979538189	0.498
18	28622550	T	A	18	31042584	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.7250081407851E-5	0.0
18	28622550	T	C	18	31042584	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	4.7250081407851E-5	0.008
18	28622550	T	G	18	31042584	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	3.02651939027975E-5	0.018
18	28622551	G	A	18	31042585	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.59764980776575E-5	0.0
18	28622551	G	C	18	31042585	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	5.95871342906356E-5	0.0
18	28622551	G	T	18	31042585	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	8.51608280523626E-5	0.0
18	28622552	G	A	18	31042586	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.15797314004146E-4	0.006
18	28622552	G	C	18	31042586	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	2.71419097322279E-4	0.032
18	28622552	G	T	18	31042586	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	1.11909762426684E-4	0.01
18	28622553	C	A	18	31042587	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999735871196968	0.952
18	28622553	C	G	18	31042587	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999532883615779	0.95
18	28622553	C	T	18	31042587	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999628414170857	0.95
18	28622554	T	A	18	31042588	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.986280802327832	0.804
18	28622554	T	C	18	31042588	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.989970170924681	0.866
18	28622554	T	G	18	31042588	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.955148158058619	0.656
18	28622555	T	A	18	31042589	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999779984198497	0.932
18	28622555	T	C	18	31042589	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.0803676414021012	0.302
18	28622555	T	G	18	31042589	y	y	intronic	DSC3	.	.	intronic	ENSG00000134762	.	.	0.999699121504326	0.816
18	28622556	A	C	18	31042590	y	y	splicing	DSC3(NM_001941:exon2:c.69+2T>G;NM_024423:exon2:c.69+2T>G)	.	.	splicing	ENSG00000134762(ENST00000360428:exon2:c.69+2T>G;ENST00000434452:exon2:c.69+2T>G)	.	.	0.999967305459904	0.946
18	28622556	A	G	18	31042590	y	y	splicing	DSC3(NM_001941:exon2:c.69+2T>C;NM_024423:exon2:c.69+2T>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon2:c.69+2T>C;ENST00000434452:exon2:c.69+2T>C)	.	.	0.999785449822215	0.926
18	28622556	A	T	18	31042590	y	y	splicing	DSC3(NM_001941:exon2:c.69+2T>A;NM_024423:exon2:c.69+2T>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon2:c.69+2T>A;ENST00000434452:exon2:c.69+2T>A)	.	.	0.999967001206676	0.944
18	28622557	C	A	18	31042591	y	y	splicing	DSC3(NM_001941:exon2:c.69+1G>T;NM_024423:exon2:c.69+1G>T)	.	.	splicing	ENSG00000134762(ENST00000360428:exon2:c.69+1G>T;ENST00000434452:exon2:c.69+1G>T)	.	.	0.999960801884893	0.898
18	28622557	C	G	18	31042591	y	y	splicing	DSC3(NM_001941:exon2:c.69+1G>C;NM_024423:exon2:c.69+1G>C)	.	.	splicing	ENSG00000134762(ENST00000360428:exon2:c.69+1G>C;ENST00000434452:exon2:c.69+1G>C)	.	.	0.999960801884893	0.898
18	28622557	C	T	18	31042591	y	y	splicing	DSC3(NM_001941:exon2:c.69+1G>A;NM_024423:exon2:c.69+1G>A)	.	.	splicing	ENSG00000134762(ENST00000360428:exon2:c.69+1G>A;ENST00000434452:exon2:c.69+1G>A)	.	.	0.999951525642332	0.916
18	28622558	C	A	18	31042592	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon1:c.G69T:p.V23V;DSC3:NM_024423:exon1:c.G69T:p.V23V;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.G69T:p.V23V;ENSG00000134762:ENST00000434452:exon1:c.G69T:p.V23V;	0.999955764818502	0.978
18	28622558	C	G	18	31042592	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon1:c.G69C:p.V23V;DSC3:NM_024423:exon1:c.G69C:p.V23V;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.G69C:p.V23V;ENSG00000134762:ENST00000434452:exon1:c.G69C:p.V23V;	0.999980555996472	0.97
18	28622558	C	T	18	31042592	y	y	exonic	DSC3	synonymous SNV	DSC3:NM_001941:exon1:c.G69A:p.V23V;DSC3:NM_024423:exon1:c.G69A:p.V23V;	exonic	ENSG00000134762	synonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.G69A:p.V23V;ENSG00000134762:ENST00000434452:exon1:c.G69A:p.V23V;	0.999928762603188	1.0
18	28622559	A	C	18	31042593	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon1:c.T68G:p.V23G;DSC3:NM_024423:exon1:c.T68G:p.V23G;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.T68G:p.V23G;ENSG00000134762:ENST00000434452:exon1:c.T68G:p.V23G;	1.56081132855426E-4	0.024
18	28622559	A	G	18	31042593	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon1:c.T68C:p.V23A;DSC3:NM_024423:exon1:c.T68C:p.V23A;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.T68C:p.V23A;ENSG00000134762:ENST00000434452:exon1:c.T68C:p.V23A;	1.66913963883895E-5	0.0
18	28622559	A	T	18	31042593	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon1:c.T68A:p.V23E;DSC3:NM_024423:exon1:c.T68A:p.V23E;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.T68A:p.V23E;ENSG00000134762:ENST00000434452:exon1:c.T68A:p.V23E;	4.44256667809216E-5	0.058
18	28622560	C	A	18	31042594	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon1:c.G67T:p.V23L;DSC3:NM_024423:exon1:c.G67T:p.V23L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.G67T:p.V23L;ENSG00000134762:ENST00000434452:exon1:c.G67T:p.V23L;	7.96881523670867E-5	0.016
18	28622560	C	G	18	31042594	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon1:c.G67C:p.V23L;DSC3:NM_024423:exon1:c.G67C:p.V23L;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.G67C:p.V23L;ENSG00000134762:ENST00000434452:exon1:c.G67C:p.V23L;	2.11135408965008E-5	0.01
18	28622560	C	T	18	31042594	y	y	exonic	DSC3	nonsynonymous SNV	DSC3:NM_001941:exon1:c.G67A:p.V23M;DSC3:NM_024423:exon1:c.G67A:p.V23M;	exonic	ENSG00000134762	nonsynonymous SNV	ENSG00000134762:ENST00000360428:exon1:c.G67A:p.V23M;ENSG00000134762:ENST00000434452:exon1:c.G67A:p.V23M;	2.25853329287737E-5	0.008
18	28648177	T	A	18	31068211	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon16:c.A2510T:p.K837I;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon16:c.A2510T:p.K837I;	7.62677214054323E-5	0.142
18	28648177	T	C	18	31068211	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon16:c.A2510G:p.K837R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon16:c.A2510G:p.K837R;	3.27645449488754E-4	0.136
18	28648177	T	G	18	31068211	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon16:c.A2510C:p.K837T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon16:c.A2510C:p.K837T;	1.66511661490082E-4	0.12
18	28648178	T	A	18	31068212	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon16:c.A2509T:p.K837X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon16:c.A2509T:p.K837X;	0.890576649462269	0.666
18	28648178	T	C	18	31068212	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon16:c.A2509G:p.K837E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon16:c.A2509G:p.K837E;	0.696174729211023	0.426
18	28648178	T	G	18	31068212	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon16:c.A2509C:p.K837Q;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon16:c.A2509C:p.K837Q;	0.853536030156179	0.672
18	28648179	C	A	18	31068213	y	y	splicing	DSC2(NM_024422:exon17:c.2509-1G>T;NM_004949:exon18:c.2555-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon18:c.2555-1G>T;ENST00000280904:exon17:c.2509-1G>T)	.	.	0.999990361384395	0.938
18	28648179	C	G	18	31068213	y	y	splicing	DSC2(NM_024422:exon17:c.2509-1G>C;NM_004949:exon18:c.2555-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon18:c.2555-1G>C;ENST00000280904:exon17:c.2509-1G>C)	.	.	0.999990361384395	0.938
18	28648179	C	T	18	31068213	y	y	splicing	DSC2(NM_024422:exon17:c.2509-1G>A;NM_004949:exon18:c.2555-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon18:c.2555-1G>A;ENST00000280904:exon17:c.2509-1G>A)	.	.	0.999990361384395	0.938
18	28648180	T	A	18	31068214	y	y	splicing	DSC2(NM_024422:exon17:c.2509-2A>T;NM_004949:exon18:c.2555-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon18:c.2555-2A>T;ENST00000280904:exon17:c.2509-2A>T)	.	.	0.999988247793601	0.932
18	28648180	T	C	18	31068214	y	y	splicing	DSC2(NM_024422:exon17:c.2509-2A>G;NM_004949:exon18:c.2555-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon18:c.2555-2A>G;ENST00000280904:exon17:c.2509-2A>G)	.	.	0.999988247793601	0.932
18	28648180	T	G	18	31068214	y	y	splicing	DSC2(NM_024422:exon17:c.2509-2A>C;NM_004949:exon18:c.2555-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon18:c.2555-2A>C;ENST00000280904:exon17:c.2509-2A>C)	.	.	0.999988247793601	0.932
18	28648181	G	A	18	31068215	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.904094121285064	0.256
18	28648181	G	C	18	31068215	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999958795071916	0.978
18	28648181	G	T	18	31068215	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999933070574121	0.958
18	28648182	C	A	18	31068216	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.8489393096984E-4	0.012
18	28648182	C	G	18	31068216	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.60400779618725E-4	0.002
18	28648182	C	T	18	31068216	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.57964485575755E-5	0.004
18	28648183	C	A	18	31068217	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0011866282937467	0.02
18	28648183	C	G	18	31068217	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00312856506575876	0.046
18	28648183	C	T	18	31068217	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.831852672668926	0.446
18	28648184	A	C	18	31068218	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00323685825907453	0.162
18	28648184	A	G	18	31068218	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.89596812541146E-4	0.0
18	28648184	A	T	18	31068218	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999482780579431	0.968
18	28648185	A	C	18	31068219	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.54822821524961E-4	0.054
18	28648185	A	G	18	31068219	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.61695148566185E-4	0.0
18	28648185	A	T	18	31068219	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.56710568703293E-4	0.096
18	28648186	G	A	18	31068220	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.11200359321418E-4	0.008
18	28648186	G	C	18	31068220	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0051837495517388	0.06
18	28648186	G	T	18	31068220	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00149402805690339	0.054
18	28648187	G	A	18	31068221	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.79201304088187E-5	0.18
18	28648187	G	C	18	31068221	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.73954361304896E-4	0.138
18	28648187	G	T	18	31068221	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00176882817508942	0.284
18	28648188	G	A	18	31068222	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0131441390890586	0.324
18	28648188	G	C	18	31068222	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0154763509372278	0.148
18	28648188	G	T	18	31068222	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0268337790873304	0.19
18	28648189	G	A	18	31068223	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.04291764722749E-4	0.098
18	28648189	G	C	18	31068223	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.99111362686921E-5	0.168
18	28648189	G	T	18	31068223	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.4235455882093E-4	0.262
18	28648190	A	C	18	31068224	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00332082823228332	0.246
18	28648190	A	G	18	31068224	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.83520847524111E-4	0.058
18	28648190	A	T	18	31068224	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00576202416898035	0.33
18	28648257	T	A	18	31068291	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.09333326667097E-4	0.036
18	28648257	T	C	18	31068291	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.09333326667097E-4	0.036
18	28648257	T	G	18	31068291	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.09333326667097E-4	0.036
18	28648258	G	A	18	31068292	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.793118250434253	0.586
18	28648258	G	C	18	31068292	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.610175718888826	0.354
18	28648258	G	T	18	31068292	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.793118250434253	0.496
18	28648259	A	C	18	31068293	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0594917922776698	0.236
18	28648259	A	G	18	31068293	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0557117808061228	0.208
18	28648259	A	T	18	31068293	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.222386838235996	0.44
18	28648260	T	A	18	31068294	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.474349078336576	0.556
18	28648260	T	C	18	31068294	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.345393001444105	0.566
18	28648260	T	G	18	31068294	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.345393001444105	0.588
18	28648261	T	A	18	31068295	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.222386838235996	0.456
18	28648261	T	C	18	31068295	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0472594491728143	0.174
18	28648261	T	G	18	31068295	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0472594491728143	0.174
18	28648262	T	A	18	31068296	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.222386838235996	0.452
18	28648262	T	C	18	31068296	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0557117808061228	0.184
18	28648262	T	G	18	31068296	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0557117808061228	0.19
18	28648263	A	C	18	31068297	y	y	splicing	DSC2(NM_004949:exon17:c.2554+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2554+2T>G)	.	.	0.942547716345633	0.85
18	28648263	A	G	18	31068297	y	y	splicing	DSC2(NM_004949:exon17:c.2554+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2554+2T>C)	.	.	0.942547716345633	0.848
18	28648263	A	T	18	31068297	y	y	splicing	DSC2(NM_004949:exon17:c.2554+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2554+2T>A)	.	.	0.942547716345633	0.856
18	28648264	C	A	18	31068298	y	y	splicing	DSC2(NM_004949:exon17:c.2554+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2554+1G>T)	.	.	0.994463269283841	0.93
18	28648264	C	G	18	31068298	y	y	splicing	DSC2(NM_004949:exon17:c.2554+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2554+1G>C)	.	.	0.994463269283841	0.928
18	28648264	C	T	18	31068298	y	y	splicing	DSC2(NM_004949:exon17:c.2554+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2554+1G>A)	.	.	0.992857727243738	0.926
18	28648265	C	A	18	31068299	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.0861748975146968	0.114
18	28648265	C	G	18	31068299	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.064779472259659	0.11
18	28648265	C	T	18	31068299	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.0861748975146968	0.16
18	28648266	T	A	18	31068300	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.222386838235996	0.472
18	28648266	T	C	18	31068300	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.222386838235996	0.334
18	28648266	T	G	18	31068300	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.222386838235996	0.34
18	28648267	T	A	18	31068301	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.222386838235996	0.472
18	28648267	T	C	18	31068301	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.222386838235996	0.332
18	28648267	T	G	18	31068301	y	y	UTR3	DSC2	.	.	UTR3	ENSG00000134755	.	.	0.222386838235996	0.34
18	28648309	T	A	18	31068343	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_004949:exon16:c.A2510T:p.E837V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000251081:exon16:c.A2510T:p.E837V;	0.92961721136914	0.81
18	28648309	T	C	18	31068343	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_004949:exon16:c.A2510G:p.E837G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000251081:exon16:c.A2510G:p.E837G;	0.92961721136914	0.802
18	28648309	T	G	18	31068343	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_004949:exon16:c.A2510C:p.E837A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000251081:exon16:c.A2510C:p.E837A;	0.92961721136914	0.81
18	28648310	C	A	18	31068344	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_004949:exon16:c.G2509T:p.E837X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000251081:exon16:c.G2509T:p.E837X;	0.995618830681449	0.958
18	28648310	C	G	18	31068344	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_004949:exon16:c.G2509C:p.E837Q;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000251081:exon16:c.G2509C:p.E837Q;	0.993733916693694	0.862
18	28648310	C	T	18	31068344	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_004949:exon16:c.G2509A:p.E837K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000251081:exon16:c.G2509A:p.E837K;	0.00458057458440297	0.076
18	28648311	C	A	18	31068345	y	y	splicing	DSC2(NM_004949:exon17:c.2509-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2509-1G>T)	.	.	0.995030058536757	0.9
18	28648311	C	G	18	31068345	y	y	splicing	DSC2(NM_004949:exon17:c.2509-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2509-1G>C)	.	.	0.995030058536757	0.89
18	28648311	C	T	18	31068345	y	y	splicing	DSC2(NM_004949:exon17:c.2509-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2509-1G>A)	.	.	0.994463269283841	0.922
18	28648312	T	A	18	31068346	y	y	splicing	DSC2(NM_004949:exon17:c.2509-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2509-2A>T)	.	.	0.943420802424773	0.84
18	28648312	T	C	18	31068346	y	y	splicing	DSC2(NM_004949:exon17:c.2509-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2509-2A>G)	.	.	0.943420802424773	0.828
18	28648312	T	G	18	31068346	y	y	splicing	DSC2(NM_004949:exon17:c.2509-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon17:c.2509-2A>C)	.	.	0.943420802424773	0.828
18	28648313	A	C	18	31068347	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.104557125287749	0.264
18	28648313	A	G	18	31068347	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.104557125287749	0.264
18	28648313	A	T	18	31068347	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.222386838235996	0.452
18	28648314	T	A	18	31068348	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.99551177375873E-5	0.006
18	28648314	T	C	18	31068348	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.58617571564762E-5	0.006
18	28648314	T	G	18	31068348	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.58617571564762E-5	0.006
18	28648315	A	C	18	31068349	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.05499324916919E-5	0.0
18	28648315	A	G	18	31068349	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.05499324916919E-5	0.0
18	28648315	A	T	18	31068349	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.4518697930878E-5	0.0
18	28648316	C	A	18	31068350	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.97503651702036E-4	0.002
18	28648316	C	G	18	31068350	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.7057495309074E-4	0.002
18	28648316	C	T	18	31068350	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.97503651702036E-4	0.002
18	28648317	A	C	18	31068351	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.32658667526046E-4	0.002
18	28648317	A	G	18	31068351	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.32658667526046E-4	0.002
18	28648317	A	T	18	31068351	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.82254846753964E-4	0.002
18	28648318	T	A	18	31068352	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.50905025777171E-4	0.03
18	28648318	T	C	18	31068352	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.86785722053277E-4	0.032
18	28648318	T	G	18	31068352	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.86785722053277E-4	0.032
18	28648319	A	C	18	31068353	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.954037698489188	0.908
18	28648319	A	G	18	31068353	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.954037698489188	0.906
18	28648319	A	T	18	31068353	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.954037698489188	0.908
18	28648320	A	C	18	31068354	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.72593892210487E-4	0.23
18	28648320	A	G	18	31068354	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.72593892210487E-4	0.228
18	28648320	A	T	18	31068354	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.72593892210487E-4	0.23
18	28648321	A	C	18	31068355	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.060123840629593	0.29
18	28648321	A	G	18	31068355	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.060123840629593	0.29
18	28648321	A	T	18	31068355	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.060123840629593	0.298
18	28648322	A	C	18	31068356	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.954037698489188	0.908
18	28648322	A	G	18	31068356	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.954037698489188	0.908
18	28648322	A	T	18	31068356	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.954037698489188	0.908
18	28648852	A	C	18	31068886	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00170686433206696	0.002
18	28648852	A	G	18	31068886	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00191726301879539	0.0
18	28648852	A	T	18	31068886	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00306225080173997	0.0
18	28648853	A	C	18	31068887	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00590964905023557	0.016
18	28648853	A	G	18	31068887	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00590964905023557	0.01
18	28648853	A	T	18	31068887	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00464680173884583	0.0
18	28648854	A	C	18	31068888	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.992150349275349	0.822
18	28648854	A	G	18	31068888	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.98803335722874	0.824
18	28648854	A	T	18	31068888	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.996745523485991	0.834
18	28648855	C	A	18	31068889	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999972800830724	0.976
18	28648855	C	G	18	31068889	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999931101599275	0.998
18	28648855	C	T	18	31068889	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999971216593841	0.996
18	28648856	T	A	18	31068890	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999225391167796	0.784
18	28648856	T	C	18	31068890	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.997358131100622	0.718
18	28648856	T	G	18	31068890	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.98390138978984	0.56
18	28648857	C	A	18	31068891	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.982461167747575	0.75
18	28648857	C	G	18	31068891	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999005168820393	0.778
18	28648857	C	T	18	31068891	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.96433289809567E-4	0.004
18	28648858	A	C	18	31068892	y	y	splicing	DSC2(NM_024422:exon16:c.2508+2T>G;NM_004949:exon16:c.2508+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2508+2T>G;ENST00000280904:exon16:c.2508+2T>G)	.	.	0.999992446697775	0.944
18	28648858	A	G	18	31068892	y	y	splicing	DSC2(NM_024422:exon16:c.2508+2T>C;NM_004949:exon16:c.2508+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2508+2T>C;ENST00000280904:exon16:c.2508+2T>C)	.	.	0.999951700573546	0.87
18	28648858	A	T	18	31068892	y	y	splicing	DSC2(NM_024422:exon16:c.2508+2T>A;NM_004949:exon16:c.2508+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2508+2T>A;ENST00000280904:exon16:c.2508+2T>A)	.	.	0.999992446697775	0.944
18	28648859	C	A	18	31068893	y	y	splicing	DSC2(NM_024422:exon16:c.2508+1G>T;NM_004949:exon16:c.2508+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2508+1G>T;ENST00000280904:exon16:c.2508+1G>T)	.	.	0.999990361384395	0.93
18	28648859	C	G	18	31068893	y	y	splicing	DSC2(NM_024422:exon16:c.2508+1G>C;NM_004949:exon16:c.2508+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2508+1G>C;ENST00000280904:exon16:c.2508+1G>C)	.	.	0.999990361384395	0.93
18	28648859	C	T	18	31068893	y	y	splicing	DSC2(NM_024422:exon16:c.2508+1G>A;NM_004949:exon16:c.2508+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2508+1G>A;ENST00000280904:exon16:c.2508+1G>A)	.	.	0.999990361384395	0.93
18	28648860	T	A	18	31068894	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.A2508T:p.E836D;DSC2:NM_004949:exon15:c.A2508T:p.E836D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2508T:p.E836D;ENSG00000134755:ENST00000251081:exon15:c.A2508T:p.E836D;	7.77485848836534E-4	0.138
18	28648860	T	C	18	31068894	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon15:c.A2508G:p.E836E;DSC2:NM_004949:exon15:c.A2508G:p.E836E;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2508G:p.E836E;ENSG00000134755:ENST00000251081:exon15:c.A2508G:p.E836E;	7.10962513635444E-4	0.088
18	28648860	T	G	18	31068894	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.A2508C:p.E836D;DSC2:NM_004949:exon15:c.A2508C:p.E836D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2508C:p.E836D;ENSG00000134755:ENST00000251081:exon15:c.A2508C:p.E836D;	4.06278456626909E-5	0.194
18	28648861	T	A	18	31068895	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.A2507T:p.E836V;DSC2:NM_004949:exon15:c.A2507T:p.E836V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2507T:p.E836V;ENSG00000134755:ENST00000251081:exon15:c.A2507T:p.E836V;	0.999879023619761	0.998
18	28648861	T	C	18	31068895	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.A2507G:p.E836G;DSC2:NM_004949:exon15:c.A2507G:p.E836G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2507G:p.E836G;ENSG00000134755:ENST00000251081:exon15:c.A2507G:p.E836G;	0.999847273482446	0.988
18	28648861	T	G	18	31068895	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.A2507C:p.E836A;DSC2:NM_004949:exon15:c.A2507C:p.E836A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2507C:p.E836A;ENSG00000134755:ENST00000251081:exon15:c.A2507C:p.E836A;	0.99956778060241	0.962
18	28648862	C	A	18	31068896	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon15:c.G2506T:p.E836X;DSC2:NM_004949:exon15:c.G2506T:p.E836X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon15:c.G2506T:p.E836X;ENSG00000134755:ENST00000251081:exon15:c.G2506T:p.E836X;	0.99006015746529	0.694
18	28648862	C	G	18	31068896	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.G2506C:p.E836Q;DSC2:NM_004949:exon15:c.G2506C:p.E836Q;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.G2506C:p.E836Q;ENSG00000134755:ENST00000251081:exon15:c.G2506C:p.E836Q;	0.867293350535123	0.61
18	28648862	C	T	18	31068896	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.G2506A:p.E836K;DSC2:NM_004949:exon15:c.G2506A:p.E836K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.G2506A:p.E836K;ENSG00000134755:ENST00000251081:exon15:c.G2506A:p.E836K;	0.902241152846626	0.672
18	28649116	T	A	18	31069150	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.A2252T:p.Y751F;DSC2:NM_004949:exon15:c.A2252T:p.Y751F;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2252T:p.Y751F;ENSG00000134755:ENST00000251081:exon15:c.A2252T:p.Y751F;	1.55488282451153E-5	0.0
18	28649116	T	C	18	31069150	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.A2252G:p.Y751C;DSC2:NM_004949:exon15:c.A2252G:p.Y751C;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2252G:p.Y751C;ENSG00000134755:ENST00000251081:exon15:c.A2252G:p.Y751C;	1.42914207213825E-4	0.012
18	28649116	T	G	18	31069150	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.A2252C:p.Y751S;DSC2:NM_004949:exon15:c.A2252C:p.Y751S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.A2252C:p.Y751S;ENSG00000134755:ENST00000251081:exon15:c.A2252C:p.Y751S;	1.29056994853463E-4	0.0
18	28649117	A	C	18	31069151	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.T2251G:p.Y751D;DSC2:NM_004949:exon15:c.T2251G:p.Y751D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.T2251G:p.Y751D;ENSG00000134755:ENST00000251081:exon15:c.T2251G:p.Y751D;	0.00112083118981336	0.094
18	28649117	A	G	18	31069151	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.T2251C:p.Y751H;DSC2:NM_004949:exon15:c.T2251C:p.Y751H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.T2251C:p.Y751H;ENSG00000134755:ENST00000251081:exon15:c.T2251C:p.Y751H;	0.00663618536650768	0.044
18	28649117	A	T	18	31069151	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon15:c.T2251A:p.Y751N;DSC2:NM_004949:exon15:c.T2251A:p.Y751N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon15:c.T2251A:p.Y751N;ENSG00000134755:ENST00000251081:exon15:c.T2251A:p.Y751N;	0.00111347367746634	0.018
18	28649118	C	A	18	31069152	y	y	splicing	DSC2(NM_024422:exon16:c.2251-1G>T;NM_004949:exon16:c.2251-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2251-1G>T;ENST00000280904:exon16:c.2251-1G>T)	.	.	0.999968430223941	0.838
18	28649118	C	G	18	31069152	y	y	splicing	DSC2(NM_024422:exon16:c.2251-1G>C;NM_004949:exon16:c.2251-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2251-1G>C;ENST00000280904:exon16:c.2251-1G>C)	.	.	0.999968430223941	0.886
18	28649118	C	T	18	31069152	y	y	splicing	DSC2(NM_024422:exon16:c.2251-1G>A;NM_004949:exon16:c.2251-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2251-1G>A;ENST00000280904:exon16:c.2251-1G>A)	.	.	0.99996748057446	0.902
18	28649119	T	A	18	31069153	y	y	splicing	DSC2(NM_024422:exon16:c.2251-2A>T;NM_004949:exon16:c.2251-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2251-2A>T;ENST00000280904:exon16:c.2251-2A>T)	.	.	0.999946188727699	0.932
18	28649119	T	C	18	31069153	y	y	splicing	DSC2(NM_024422:exon16:c.2251-2A>G;NM_004949:exon16:c.2251-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2251-2A>G;ENST00000280904:exon16:c.2251-2A>G)	.	.	0.999964896440643	0.93
18	28649119	T	G	18	31069153	y	y	splicing	DSC2(NM_024422:exon16:c.2251-2A>C;NM_004949:exon16:c.2251-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon16:c.2251-2A>C;ENST00000280904:exon16:c.2251-2A>C)	.	.	0.999964896440643	0.93
18	28649120	G	A	18	31069154	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00173583977856899	0.164
18	28649120	G	C	18	31069154	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999646796499015	0.914
18	28649120	G	T	18	31069154	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.994004074707843	0.796
18	28649121	A	C	18	31069155	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.96446257369104E-4	0.064
18	28649121	A	G	18	31069155	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.0393335708976E-4	0.068
18	28649121	A	T	18	31069155	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.21637779088862E-4	0.028
18	28649122	A	C	18	31069156	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.948026845468722	0.534
18	28649122	A	G	18	31069156	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0375460478400681	0.112
18	28649122	A	T	18	31069156	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.958325812227627	0.558
18	28649123	A	C	18	31069157	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999962363394868	0.96
18	28649123	A	G	18	31069157	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.36391166327765E-4	0.084
18	28649123	A	T	18	31069157	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.846293015333837	0.552
18	28649124	T	A	18	31069158	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.14212175554727E-5	0.014
18	28649124	T	C	18	31069158	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.02359528615311E-5	0.032
18	28649124	T	G	18	31069158	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.68023862483207E-5	0.014
18	28649125	G	A	18	31069159	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.56876206870078E-5	0.0
18	28649125	G	C	18	31069159	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0142036840901265	0.064
18	28649125	G	T	18	31069159	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00209978034507587	0.03
18	28649126	A	C	18	31069160	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00690809287887623	0.304
18	28649126	A	G	18	31069160	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.18795481763122E-4	0.13
18	28649126	A	T	18	31069160	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.177199608093007	0.36
18	28649127	A	C	18	31069161	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.474583415572191	0.502
18	28649127	A	G	18	31069161	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00113545054900012	0.15
18	28649127	A	T	18	31069161	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0592616180593771	0.454
18	28649128	A	C	18	31069162	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.74047773445047	0.656
18	28649128	A	G	18	31069162	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0905755744962183	0.274
18	28649128	A	T	18	31069162	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.917195771590376	0.718
18	28649129	A	C	18	31069163	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.500128326616374	0.502
18	28649129	A	G	18	31069163	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00281918414978223	0.03
18	28649129	A	T	18	31069163	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.905085699444881	0.65
18	28650684	C	A	18	31070718	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.07014835428848E-5	0.002
18	28650684	C	G	18	31070718	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.95815540499835E-5	0.006
18	28650684	C	T	18	31070718	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.49702646665041E-5	0.002
18	28650685	T	A	18	31070719	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.68216876595996E-5	0.0
18	28650685	T	C	18	31070719	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.52297880296295E-5	0.0
18	28650685	T	G	18	31070719	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.30477579161392E-5	0.0
18	28650686	A	C	18	31070720	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00174371003590192	0.072
18	28650686	A	G	18	31070720	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0134548202273973	0.134
18	28650686	A	T	18	31070720	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00594868026970746	0.118
18	28650687	C	A	18	31070721	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999406449487979	0.906
18	28650687	C	G	18	31070721	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999126630026783	0.922
18	28650687	C	T	18	31070721	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999426298710527	0.95
18	28650688	T	A	18	31070722	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99400297108938	0.796
18	28650688	T	C	18	31070722	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.997010483877944	0.844
18	28650688	T	G	18	31070722	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.968757206742744	0.806
18	28650689	T	A	18	31070723	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.948697752465218	0.648
18	28650689	T	C	18	31070723	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.011391222200887	0.21
18	28650689	T	G	18	31070723	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.996801144754577	0.882
18	28650690	A	C	18	31070724	y	y	splicing	DSC2(NM_024422:exon15:c.2250+2T>G;NM_004949:exon15:c.2250+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2250+2T>G;ENST00000280904:exon15:c.2250+2T>G)	.	.	0.999981808176352	0.92
18	28650690	A	G	18	31070724	y	y	splicing	DSC2(NM_024422:exon15:c.2250+2T>C;NM_004949:exon15:c.2250+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2250+2T>C;ENST00000280904:exon15:c.2250+2T>C)	.	.	0.993058197519409	0.58
18	28650690	A	T	18	31070724	y	y	splicing	DSC2(NM_024422:exon15:c.2250+2T>A;NM_004949:exon15:c.2250+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2250+2T>A;ENST00000280904:exon15:c.2250+2T>A)	.	.	0.999981808176352	0.92
18	28650691	C	A	18	31070725	y	y	splicing	DSC2(NM_024422:exon15:c.2250+1G>T;NM_004949:exon15:c.2250+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2250+1G>T;ENST00000280904:exon15:c.2250+1G>T)	.	.	0.999989072007339	0.934
18	28650691	C	G	18	31070725	y	y	splicing	DSC2(NM_024422:exon15:c.2250+1G>C;NM_004949:exon15:c.2250+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2250+1G>C;ENST00000280904:exon15:c.2250+1G>C)	.	.	0.999989072007339	0.934
18	28650691	C	T	18	31070725	y	y	splicing	DSC2(NM_024422:exon15:c.2250+1G>A;NM_004949:exon15:c.2250+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2250+1G>A;ENST00000280904:exon15:c.2250+1G>A)	.	.	0.999989072007339	0.934
18	28650692	C	A	18	31070726	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon14:c.G2250T:p.V750V;DSC2:NM_004949:exon14:c.G2250T:p.V750V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2250T:p.V750V;ENSG00000134755:ENST00000251081:exon14:c.G2250T:p.V750V;	0.803594626236022	0.608
18	28650692	C	G	18	31070726	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon14:c.G2250C:p.V750V;DSC2:NM_004949:exon14:c.G2250C:p.V750V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2250C:p.V750V;ENSG00000134755:ENST00000251081:exon14:c.G2250C:p.V750V;	0.830871394293929	0.646
18	28650692	C	T	18	31070726	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon14:c.G2250A:p.V750V;DSC2:NM_004949:exon14:c.G2250A:p.V750V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2250A:p.V750V;ENSG00000134755:ENST00000251081:exon14:c.G2250A:p.V750V;	0.830234415178493	0.62
18	28650693	A	C	18	31070727	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.T2249G:p.V750G;DSC2:NM_004949:exon14:c.T2249G:p.V750G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.T2249G:p.V750G;ENSG00000134755:ENST00000251081:exon14:c.T2249G:p.V750G;	0.898034075848389	0.788
18	28650693	A	G	18	31070727	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.T2249C:p.V750A;DSC2:NM_004949:exon14:c.T2249C:p.V750A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.T2249C:p.V750A;ENSG00000134755:ENST00000251081:exon14:c.T2249C:p.V750A;	0.892608237467445	0.774
18	28650693	A	T	18	31070727	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.T2249A:p.V750E;DSC2:NM_004949:exon14:c.T2249A:p.V750E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.T2249A:p.V750E;ENSG00000134755:ENST00000251081:exon14:c.T2249A:p.V750E;	0.786827031504404	0.644
18	28650694	C	A	18	31070728	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.G2248T:p.V750L;DSC2:NM_004949:exon14:c.G2248T:p.V750L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2248T:p.V750L;ENSG00000134755:ENST00000251081:exon14:c.G2248T:p.V750L;	1.02422911004007E-4	0.054
18	28650694	C	G	18	31070728	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.G2248C:p.V750L;DSC2:NM_004949:exon14:c.G2248C:p.V750L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2248C:p.V750L;ENSG00000134755:ENST00000251081:exon14:c.G2248C:p.V750L;	1.85141545265896E-5	0.032
18	28650694	C	T	18	31070728	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.G2248A:p.V750M;DSC2:NM_004949:exon14:c.G2248A:p.V750M;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2248A:p.V750M;ENSG00000134755:ENST00000251081:exon14:c.G2248A:p.V750M;	7.22285880314671E-5	0.002
18	28650815	G	A	18	31070849	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon14:c.C2127T:p.C709C;DSC2:NM_004949:exon14:c.C2127T:p.C709C;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.C2127T:p.C709C;ENSG00000134755:ENST00000251081:exon14:c.C2127T:p.C709C;	7.48319977212103E-6	0.0
18	28650815	G	C	18	31070849	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.C2127G:p.C709W;DSC2:NM_004949:exon14:c.C2127G:p.C709W;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.C2127G:p.C709W;ENSG00000134755:ENST00000251081:exon14:c.C2127G:p.C709W;	6.14405447607066E-5	0.024
18	28650815	G	T	18	31070849	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon14:c.C2127A:p.C709X;DSC2:NM_004949:exon14:c.C2127A:p.C709X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon14:c.C2127A:p.C709X;ENSG00000134755:ENST00000251081:exon14:c.C2127A:p.C709X;	0.00635060763479567	0.22
18	28650816	C	A	18	31070850	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.G2126T:p.C709F;DSC2:NM_004949:exon14:c.G2126T:p.C709F;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2126T:p.C709F;ENSG00000134755:ENST00000251081:exon14:c.G2126T:p.C709F;	0.999363393791782	0.89
18	28650816	C	G	18	31070850	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.G2126C:p.C709S;DSC2:NM_004949:exon14:c.G2126C:p.C709S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2126C:p.C709S;ENSG00000134755:ENST00000251081:exon14:c.G2126C:p.C709S;	0.872313778773853	0.556
18	28650816	C	T	18	31070850	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon14:c.G2126A:p.C709Y;DSC2:NM_004949:exon14:c.G2126A:p.C709Y;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon14:c.G2126A:p.C709Y;ENSG00000134755:ENST00000251081:exon14:c.G2126A:p.C709Y;	0.998478332512189	0.772
18	28650817	C	A	18	31070851	y	y	splicing	DSC2(NM_024422:exon15:c.2126-1G>T;NM_004949:exon15:c.2126-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2126-1G>T;ENST00000280904:exon15:c.2126-1G>T)	.	.	0.999949962508874	0.946
18	28650817	C	G	18	31070851	y	y	splicing	DSC2(NM_024422:exon15:c.2126-1G>C;NM_004949:exon15:c.2126-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2126-1G>C;ENST00000280904:exon15:c.2126-1G>C)	.	.	0.999949962508874	0.944
18	28650817	C	T	18	31070851	y	y	splicing	DSC2(NM_024422:exon15:c.2126-1G>A;NM_004949:exon15:c.2126-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2126-1G>A;ENST00000280904:exon15:c.2126-1G>A)	.	.	0.999949496871441	0.946
18	28650818	T	A	18	31070852	y	y	splicing	DSC2(NM_024422:exon15:c.2126-2A>T;NM_004949:exon15:c.2126-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2126-2A>T;ENST00000280904:exon15:c.2126-2A>T)	.	.	0.999988247793601	0.928
18	28650818	T	C	18	31070852	y	y	splicing	DSC2(NM_024422:exon15:c.2126-2A>G;NM_004949:exon15:c.2126-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2126-2A>G;ENST00000280904:exon15:c.2126-2A>G)	.	.	0.999978952611685	0.928
18	28650818	T	G	18	31070852	y	y	splicing	DSC2(NM_024422:exon15:c.2126-2A>C;NM_004949:exon15:c.2126-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon15:c.2126-2A>C;ENST00000280904:exon15:c.2126-2A>C)	.	.	0.999978952611685	0.928
18	28650819	G	A	18	31070853	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00116450376662204	0.136
18	28650819	G	C	18	31070853	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998607361760925	0.854
18	28650819	G	T	18	31070853	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.611805705988801	0.424
18	28650820	G	A	18	31070854	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.15928691961172E-4	0.002
18	28650820	G	C	18	31070854	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.29205158424839E-5	0.002
18	28650820	G	T	18	31070854	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.64783020631633E-5	0.002
18	28650821	A	C	18	31070855	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.33938262362746E-4	0.166
18	28650821	A	G	18	31070855	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.10894201783052E-4	0.026
18	28650821	A	T	18	31070855	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.89903740178782E-4	0.116
18	28650822	G	A	18	31070856	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.43475162892884E-5	0.008
18	28650822	G	C	18	31070856	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.91995661833503E-4	0.146
18	28650822	G	T	18	31070856	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.18942868705033E-4	0.154
18	28650823	G	A	18	31070857	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.58666755761889E-5	0.0
18	28650823	G	C	18	31070857	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.4087041203291E-4	0.114
18	28650823	G	T	18	31070857	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.18676327801243E-4	0.098
18	28650824	A	C	18	31070858	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.59607043926973E-4	0.046
18	28650824	A	G	18	31070858	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.56234564364834E-4	0.008
18	28650824	A	T	18	31070858	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.80666073762891E-4	0.03
18	28650825	A	C	18	31070859	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.010467962987517	0.12
18	28650825	A	G	18	31070859	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00268730524165518	0.07
18	28650825	A	T	18	31070859	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0112709987336556	0.126
18	28650826	G	A	18	31070860	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.60264344173172E-4	0.164
18	28650826	G	C	18	31070860	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.53936470332173E-5	0.078
18	28650826	G	T	18	31070860	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.75378087637224E-5	0.184
18	28650827	A	C	18	31070861	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.68593209066434E-5	0.188
18	28650827	A	G	18	31070861	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.0230530414067E-5	0.094
18	28650827	A	T	18	31070861	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.59953425001301E-4	0.286
18	28650828	A	C	18	31070862	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.7315597359788E-5	0.128
18	28650828	A	G	18	31070862	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.25409937982875E-5	0.066
18	28650828	A	T	18	31070862	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.4221158058078E-5	0.114
18	28651563	A	C	18	31071597	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.27002418871074E-4	0.0
18	28651563	A	G	18	31071597	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.08454055578116E-4	0.002
18	28651563	A	T	18	31071597	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.72415902301799E-4	0.0
18	28651564	G	A	18	31071598	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.6026288566788E-4	0.014
18	28651564	G	C	18	31071598	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.63900743336405E-4	0.0
18	28651564	G	T	18	31071598	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.01441609049165E-4	0.002
18	28651565	A	C	18	31071599	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998170666405487	0.922
18	28651565	A	G	18	31071599	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999045669022968	0.984
18	28651565	A	T	18	31071599	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998405731455327	0.856
18	28651566	C	A	18	31071600	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99997221787945	0.982
18	28651566	C	G	18	31071600	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999972721962824	0.968
18	28651566	C	T	18	31071600	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99998241929691	1.0
18	28651567	T	A	18	31071601	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999570031270867	0.93
18	28651567	T	C	18	31071601	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99983896108628	0.942
18	28651567	T	G	18	31071601	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998011137152159	0.916
18	28651568	T	A	18	31071602	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999874744887126	0.942
18	28651568	T	C	18	31071602	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.551399397906986	0.432
18	28651568	T	G	18	31071602	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999846954744193	0.932
18	28651569	A	C	18	31071603	y	y	splicing	DSC2(NM_024422:exon14:c.2125+2T>G;NM_004949:exon14:c.2125+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.2125+2T>G;ENST00000280904:exon14:c.2125+2T>G)	.	.	0.999988247793601	0.928
18	28651569	A	G	18	31071603	y	y	splicing	DSC2(NM_024422:exon14:c.2125+2T>C;NM_004949:exon14:c.2125+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.2125+2T>C;ENST00000280904:exon14:c.2125+2T>C)	.	.	0.99842220575129	0.76
18	28651569	A	T	18	31071603	y	y	splicing	DSC2(NM_024422:exon14:c.2125+2T>A;NM_004949:exon14:c.2125+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.2125+2T>A;ENST00000280904:exon14:c.2125+2T>A)	.	.	0.999988247793601	0.928
18	28651570	C	A	18	31071604	y	y	splicing	DSC2(NM_024422:exon14:c.2125+1G>T;NM_004949:exon14:c.2125+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.2125+1G>T;ENST00000280904:exon14:c.2125+1G>T)	.	.	0.999989072007339	0.932
18	28651570	C	G	18	31071604	y	y	splicing	DSC2(NM_024422:exon14:c.2125+1G>C;NM_004949:exon14:c.2125+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.2125+1G>C;ENST00000280904:exon14:c.2125+1G>C)	.	.	0.999989072007339	0.932
18	28651570	C	T	18	31071604	y	y	splicing	DSC2(NM_024422:exon14:c.2125+1G>A;NM_004949:exon14:c.2125+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.2125+1G>A;ENST00000280904:exon14:c.2125+1G>A)	.	.	0.999989072007339	0.932
18	28651571	A	C	18	31071605	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T2125G:p.C709G;DSC2:NM_004949:exon13:c.T2125G:p.C709G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2125G:p.C709G;ENSG00000134755:ENST00000251081:exon13:c.T2125G:p.C709G;	6.14996484743196E-4	0.13
18	28651571	A	G	18	31071605	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T2125C:p.C709R;DSC2:NM_004949:exon13:c.T2125C:p.C709R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2125C:p.C709R;ENSG00000134755:ENST00000251081:exon13:c.T2125C:p.C709R;	0.374104798252563	0.438
18	28651571	A	T	18	31071605	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T2125A:p.C709S;DSC2:NM_004949:exon13:c.T2125A:p.C709S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2125A:p.C709S;ENSG00000134755:ENST00000251081:exon13:c.T2125A:p.C709S;	5.59723057406906E-4	0.016
18	28651572	A	C	18	31071606	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T2124G:p.F708L;DSC2:NM_004949:exon13:c.T2124G:p.F708L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2124G:p.F708L;ENSG00000134755:ENST00000251081:exon13:c.T2124G:p.F708L;	1.43801272921055E-5	0.032
18	28651572	A	G	18	31071606	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon13:c.T2124C:p.F708F;DSC2:NM_004949:exon13:c.T2124C:p.F708F;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2124C:p.F708F;ENSG00000134755:ENST00000251081:exon13:c.T2124C:p.F708F;	4.69858566432409E-5	0.012
18	28651572	A	T	18	31071606	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T2124A:p.F708L;DSC2:NM_004949:exon13:c.T2124A:p.F708L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2124A:p.F708L;ENSG00000134755:ENST00000251081:exon13:c.T2124A:p.F708L;	5.01098423093857E-5	0.066
18	28651573	A	C	18	31071607	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T2123G:p.F708C;DSC2:NM_004949:exon13:c.T2123G:p.F708C;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2123G:p.F708C;ENSG00000134755:ENST00000251081:exon13:c.T2123G:p.F708C;	0.738103318948318	0.652
18	28651573	A	G	18	31071607	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T2123C:p.F708S;DSC2:NM_004949:exon13:c.T2123C:p.F708S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2123C:p.F708S;ENSG00000134755:ENST00000251081:exon13:c.T2123C:p.F708S;	0.0353592791165971	0.304
18	28651573	A	T	18	31071607	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T2123A:p.F708Y;DSC2:NM_004949:exon13:c.T2123A:p.F708Y;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T2123A:p.F708Y;ENSG00000134755:ENST00000251081:exon13:c.T2123A:p.F708Y;	0.676482151470728	0.68
18	28651806	A	C	18	31071840	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T1890G:p.D630E;DSC2:NM_004949:exon13:c.T1890G:p.D630E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T1890G:p.D630E;ENSG00000134755:ENST00000251081:exon13:c.T1890G:p.D630E;	2.33334293020691E-5	0.082
18	28651806	A	G	18	31071840	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon13:c.T1890C:p.D630D;DSC2:NM_004949:exon13:c.T1890C:p.D630D;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T1890C:p.D630D;ENSG00000134755:ENST00000251081:exon13:c.T1890C:p.D630D;	1.49089336502926E-4	0.054
18	28651806	A	T	18	31071840	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.T1890A:p.D630E;DSC2:NM_004949:exon13:c.T1890A:p.D630E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.T1890A:p.D630E;ENSG00000134755:ENST00000251081:exon13:c.T1890A:p.D630E;	4.65628179675664E-5	0.138
18	28651807	T	A	18	31071841	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.A1889T:p.D630V;DSC2:NM_004949:exon13:c.A1889T:p.D630V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.A1889T:p.D630V;ENSG00000134755:ENST00000251081:exon13:c.A1889T:p.D630V;	0.0202322402325566	0.15
18	28651807	T	C	18	31071841	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.A1889G:p.D630G;DSC2:NM_004949:exon13:c.A1889G:p.D630G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.A1889G:p.D630G;ENSG00000134755:ENST00000251081:exon13:c.A1889G:p.D630G;	2.11923490442091E-4	0.01
18	28651807	T	G	18	31071841	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon13:c.A1889C:p.D630A;DSC2:NM_004949:exon13:c.A1889C:p.D630A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon13:c.A1889C:p.D630A;ENSG00000134755:ENST00000251081:exon13:c.A1889C:p.D630A;	0.0202322402325566	0.17
18	28651808	C	A	18	31071842	y	y	splicing	DSC2(NM_024422:exon14:c.1889-1G>T;NM_004949:exon14:c.1889-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.1889-1G>T;ENST00000280904:exon14:c.1889-1G>T)	.	.	0.999990361384395	0.938
18	28651808	C	G	18	31071842	y	y	splicing	DSC2(NM_024422:exon14:c.1889-1G>C;NM_004949:exon14:c.1889-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.1889-1G>C;ENST00000280904:exon14:c.1889-1G>C)	.	.	0.999990361384395	0.938
18	28651808	C	T	18	31071842	y	y	splicing	DSC2(NM_024422:exon14:c.1889-1G>A;NM_004949:exon14:c.1889-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.1889-1G>A;ENST00000280904:exon14:c.1889-1G>A)	.	.	0.999990361384395	0.938
18	28651809	T	A	18	31071843	y	y	splicing	DSC2(NM_024422:exon14:c.1889-2A>T;NM_004949:exon14:c.1889-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.1889-2A>T;ENST00000280904:exon14:c.1889-2A>T)	.	.	0.999986607513753	0.916
18	28651809	T	C	18	31071843	y	y	splicing	DSC2(NM_024422:exon14:c.1889-2A>G;NM_004949:exon14:c.1889-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.1889-2A>G;ENST00000280904:exon14:c.1889-2A>G)	.	.	0.999986607513753	0.916
18	28651809	T	G	18	31071843	y	y	splicing	DSC2(NM_024422:exon14:c.1889-2A>C;NM_004949:exon14:c.1889-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon14:c.1889-2A>C;ENST00000280904:exon14:c.1889-2A>C)	.	.	0.999986607513753	0.916
18	28651810	G	A	18	31071844	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.988389301451502	0.336
18	28651810	G	C	18	31071844	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99996187021798	0.966
18	28651810	G	T	18	31071844	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999809478673668	0.882
18	28651811	A	C	18	31071845	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.26199074417758E-5	0.0
18	28651811	A	G	18	31071845	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.49351695384576E-5	0.006
18	28651811	A	T	18	31071845	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.37811963006054E-4	0.038
18	28651812	A	C	18	31071846	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.896239751662242	0.544
18	28651812	A	G	18	31071846	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00751425486137744	0.072
18	28651812	A	T	18	31071846	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.75308136534431	0.586
18	28651813	A	C	18	31071847	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.2944753509467	0.48
18	28651813	A	G	18	31071847	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.64331451489769E-4	0.002
18	28651813	A	T	18	31071847	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.178117252268186	0.412
18	28651814	A	C	18	31071848	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999904021976211	0.988
18	28651814	A	G	18	31071848	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.84054904848058E-4	0.006
18	28651814	A	T	18	31071848	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0261864785434612	0.284
18	28651815	T	A	18	31071849	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.65047354028333E-5	0.002
18	28651815	T	C	18	31071849	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.47348756796826E-5	0.0
18	28651815	T	G	18	31071849	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.65047354028333E-5	0.002
18	28651816	A	C	18	31071850	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.962052224871027	0.896
18	28651816	A	G	18	31071850	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.12244906046569E-5	0.0
18	28651816	A	T	18	31071850	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00243955961494476	0.074
18	28651817	T	A	18	31071851	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.16738266513237E-5	0.0
18	28651817	T	C	18	31071851	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.1583907502259E-5	0.0
18	28651817	T	G	18	31071851	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.7634072299745E-5	0.0
18	28651818	A	C	18	31071852	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0323941350863823	0.292
18	28651818	A	G	18	31071852	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.21188839692175E-4	0.012
18	28651818	A	T	18	31071852	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0643297022883345	0.286
18	28651819	A	C	18	31071853	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0240179364595746	0.328
18	28651819	A	G	18	31071853	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.01815402538509E-4	0.0
18	28651819	A	T	18	31071853	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.021520186690403	0.31
18	28654641	A	C	18	31074675	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.19897656387879E-4	0.016
18	28654641	A	G	18	31074675	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.25306015473716E-4	0.004
18	28654641	A	T	18	31074675	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.26389454730015E-5	0.0
18	28654642	T	A	18	31074676	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.68929164380031E-5	0.022
18	28654642	T	C	18	31074676	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.22370765394219E-4	0.098
18	28654642	T	G	18	31074676	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.04900693216345E-6	0.0
18	28654643	A	C	18	31074677	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0190176887596973	0.408
18	28654643	A	G	18	31074677	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.155167917820862	0.442
18	28654643	A	T	18	31074677	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.689570083467481	0.528
18	28654644	T	A	18	31074678	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.69144126984504E-4	0.028
18	28654644	T	C	18	31074678	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.89960063069648E-5	0.022
18	28654644	T	G	18	31074678	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.35243578774958E-4	0.098
18	28654645	A	C	18	31074679	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.61388790882419E-4	0.03
18	28654645	A	G	18	31074679	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.59313457049429E-4	0.042
18	28654645	A	T	18	31074679	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.41664799196953E-4	0.112
18	28654646	T	A	18	31074680	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.993002721415863	0.574
18	28654646	T	C	18	31074680	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.861513587282918	0.514
18	28654646	T	G	18	31074680	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.993002721415863	0.542
18	28654647	A	C	18	31074681	y	y	splicing	DSC2(NM_024422:exon13:c.1888+2T>G;NM_004949:exon13:c.1888+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1888+2T>G;ENST00000280904:exon13:c.1888+2T>G)	.	.	0.999965314197099	0.884
18	28654647	A	G	18	31074681	y	y	splicing	DSC2(NM_024422:exon13:c.1888+2T>C;NM_004949:exon13:c.1888+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1888+2T>C;ENST00000280904:exon13:c.1888+2T>C)	.	.	0.937942319760425	0.582
18	28654647	A	T	18	31074681	y	y	splicing	DSC2(NM_024422:exon13:c.1888+2T>A;NM_004949:exon13:c.1888+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1888+2T>A;ENST00000280904:exon13:c.1888+2T>A)	.	.	0.999968585001639	0.894
18	28654648	C	A	18	31074682	y	y	splicing	DSC2(NM_024422:exon13:c.1888+1G>T;NM_004949:exon13:c.1888+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1888+1G>T;ENST00000280904:exon13:c.1888+1G>T)	.	.	0.999961327513015	0.896
18	28654648	C	G	18	31074682	y	y	splicing	DSC2(NM_024422:exon13:c.1888+1G>C;NM_004949:exon13:c.1888+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1888+1G>C;ENST00000280904:exon13:c.1888+1G>C)	.	.	0.999957301119924	0.894
18	28654648	C	T	18	31074682	y	y	splicing	DSC2(NM_024422:exon13:c.1888+1G>A;NM_004949:exon13:c.1888+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1888+1G>A;ENST00000280904:exon13:c.1888+1G>A)	.	.	0.999962322234123	0.92
18	28654649	C	A	18	31074683	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.G1888T:p.D630Y;DSC2:NM_004949:exon12:c.G1888T:p.D630Y;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.G1888T:p.D630Y;ENSG00000134755:ENST00000251081:exon12:c.G1888T:p.D630Y;	0.999980433352654	1.0
18	28654649	C	G	18	31074683	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.G1888C:p.D630H;DSC2:NM_004949:exon12:c.G1888C:p.D630H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.G1888C:p.D630H;ENSG00000134755:ENST00000251081:exon12:c.G1888C:p.D630H;	0.999989871776592	1.0
18	28654649	C	T	18	31074683	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.G1888A:p.D630N;DSC2:NM_004949:exon12:c.G1888A:p.D630N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.G1888A:p.D630N;ENSG00000134755:ENST00000251081:exon12:c.G1888A:p.D630N;	0.99999534242859	0.998
18	28654650	A	C	18	31074684	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.T1887G:p.N629K;DSC2:NM_004949:exon12:c.T1887G:p.N629K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.T1887G:p.N629K;ENSG00000134755:ENST00000251081:exon12:c.T1887G:p.N629K;	0.00207338359344001	0.298
18	28654650	A	G	18	31074684	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon12:c.T1887C:p.N629N;DSC2:NM_004949:exon12:c.T1887C:p.N629N;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.T1887C:p.N629N;ENSG00000134755:ENST00000251081:exon12:c.T1887C:p.N629N;	2.89361303192025E-4	0.092
18	28654650	A	T	18	31074684	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.T1887A:p.N629K;DSC2:NM_004949:exon12:c.T1887A:p.N629K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.T1887A:p.N629K;ENSG00000134755:ENST00000251081:exon12:c.T1887A:p.N629K;	0.00175008491757008	0.228
18	28654651	T	A	18	31074685	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.A1886T:p.N629I;DSC2:NM_004949:exon12:c.A1886T:p.N629I;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.A1886T:p.N629I;ENSG00000134755:ENST00000251081:exon12:c.A1886T:p.N629I;	0.997301000748576	0.864
18	28654651	T	C	18	31074685	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.A1886G:p.N629S;DSC2:NM_004949:exon12:c.A1886G:p.N629S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.A1886G:p.N629S;ENSG00000134755:ENST00000251081:exon12:c.A1886G:p.N629S;	0.288879633696297	0.348
18	28654651	T	G	18	31074685	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.A1886C:p.N629T;DSC2:NM_004949:exon12:c.A1886C:p.N629T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.A1886C:p.N629T;ENSG00000134755:ENST00000251081:exon12:c.A1886C:p.N629T;	0.00460175089027466	0.094
18	28654872	T	A	18	31074906	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon12:c.A1665T:p.G555G;DSC2:NM_004949:exon12:c.A1665T:p.G555G;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.A1665T:p.G555G;ENSG00000134755:ENST00000251081:exon12:c.A1665T:p.G555G;	9.22707942625607E-6	0.0
18	28654872	T	C	18	31074906	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon12:c.A1665G:p.G555G;DSC2:NM_004949:exon12:c.A1665G:p.G555G;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.A1665G:p.G555G;ENSG00000134755:ENST00000251081:exon12:c.A1665G:p.G555G;	4.38123814817543E-5	0.012
18	28654872	T	G	18	31074906	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon12:c.A1665C:p.G555G;DSC2:NM_004949:exon12:c.A1665C:p.G555G;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.A1665C:p.G555G;ENSG00000134755:ENST00000251081:exon12:c.A1665C:p.G555G;	3.60949756199275E-5	0.0
18	28654873	C	A	18	31074907	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.G1664T:p.G555V;DSC2:NM_004949:exon12:c.G1664T:p.G555V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.G1664T:p.G555V;ENSG00000134755:ENST00000251081:exon12:c.G1664T:p.G555V;	0.0191398125282694	0.21
18	28654873	C	G	18	31074907	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.G1664C:p.G555A;DSC2:NM_004949:exon12:c.G1664C:p.G555A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.G1664C:p.G555A;ENSG00000134755:ENST00000251081:exon12:c.G1664C:p.G555A;	5.41225010557977E-4	0.2
18	28654873	C	T	18	31074907	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon12:c.G1664A:p.G555E;DSC2:NM_004949:exon12:c.G1664A:p.G555E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon12:c.G1664A:p.G555E;ENSG00000134755:ENST00000251081:exon12:c.G1664A:p.G555E;	2.36306142316705E-4	0.194
18	28654874	C	A	18	31074908	y	y	splicing	DSC2(NM_024422:exon13:c.1664-1G>T;NM_004949:exon13:c.1664-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1664-1G>T;ENST00000280904:exon13:c.1664-1G>T)	.	.	0.999977614472875	0.808
18	28654874	C	G	18	31074908	y	y	splicing	DSC2(NM_024422:exon13:c.1664-1G>C;NM_004949:exon13:c.1664-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1664-1G>C;ENST00000280904:exon13:c.1664-1G>C)	.	.	0.999977614472875	0.792
18	28654874	C	T	18	31074908	y	y	splicing	DSC2(NM_024422:exon13:c.1664-1G>A;NM_004949:exon13:c.1664-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1664-1G>A;ENST00000280904:exon13:c.1664-1G>A)	.	.	0.999958003653399	0.812
18	28654875	T	A	18	31074909	y	y	splicing	DSC2(NM_024422:exon13:c.1664-2A>T;NM_004949:exon13:c.1664-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1664-2A>T;ENST00000280904:exon13:c.1664-2A>T)	.	.	0.999962958601995	0.794
18	28654875	T	C	18	31074909	y	y	splicing	DSC2(NM_024422:exon13:c.1664-2A>G;NM_004949:exon13:c.1664-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1664-2A>G;ENST00000280904:exon13:c.1664-2A>G)	.	.	0.999980255680118	0.77
18	28654875	T	G	18	31074909	y	y	splicing	DSC2(NM_024422:exon13:c.1664-2A>C;NM_004949:exon13:c.1664-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon13:c.1664-2A>C;ENST00000280904:exon13:c.1664-2A>C)	.	.	0.999980255680118	0.776
18	28654876	A	C	18	31074910	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.392422118477859	0.494
18	28654876	A	G	18	31074910	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.18949760249653E-5	0.022
18	28654876	A	T	18	31074910	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.42698697400263E-4	0.134
18	28654877	G	A	18	31074911	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.89353511234384E-5	0.092
18	28654877	G	C	18	31074911	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.18293494564036E-5	0.068
18	28654877	G	T	18	31074911	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.56108651838058E-5	0.062
18	28654878	A	C	18	31074912	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00194020984057957	0.284
18	28654878	A	G	18	31074912	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.84934087560609E-5	0.01
18	28654878	A	T	18	31074912	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.72356249024419E-4	0.186
18	28654879	A	C	18	31074913	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.02474268402947E-4	0.088
18	28654879	A	G	18	31074913	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.51365764442508E-5	0.044
18	28654879	A	T	18	31074913	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.58955648936414E-5	0.056
18	28654880	A	C	18	31074914	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.85957585001333E-4	0.1
18	28654880	A	G	18	31074914	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.14193208027897E-4	0.028
18	28654880	A	T	18	31074914	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.31501036055228E-4	0.098
18	28654881	A	C	18	31074915	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.50145908994987E-5	0.072
18	28654881	A	G	18	31074915	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.60026318975022E-5	0.016
18	28654881	A	T	18	31074915	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.30829906118501E-5	0.072
18	28654882	A	C	18	31074916	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998089019952267	0.938
18	28654882	A	G	18	31074916	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.10330546967045E-5	0.008
18	28654882	A	T	18	31074916	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.01371766648249E-4	0.074
18	28654883	T	A	18	31074917	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.12380218296039E-5	0.0
18	28654883	T	C	18	31074917	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.06846341335515E-5	0.002
18	28654883	T	G	18	31074917	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.48064695835003E-6	0.0
18	28654884	G	A	18	31074918	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.67381871585119E-5	0.002
18	28654884	G	C	18	31074918	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.96522861965012E-5	0.006
18	28654884	G	T	18	31074918	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.72427677244214E-4	0.018
18	28654885	A	C	18	31074919	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.31741500016963E-4	0.11
18	28654885	A	G	18	31074919	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.38138566638825E-5	0.002
18	28654885	A	T	18	31074919	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.38911804088324E-4	0.106
18	28659805	A	C	18	31079839	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00132109871101171	0.002
18	28659805	A	G	18	31079839	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00132109871101171	0.008
18	28659805	A	T	18	31079839	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00171142876556109	0.0
18	28659806	T	A	18	31079840	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.18961505015758E-4	0.0
18	28659806	T	C	18	31079840	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.26351819982407E-5	0.002
18	28659806	T	G	18	31079840	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.26351819982407E-5	0.0
18	28659807	T	A	18	31079841	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.14167448065063E-5	0.008
18	28659807	T	C	18	31079841	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.90895465839642E-5	0.0
18	28659807	T	G	18	31079841	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.61748780730484E-5	0.004
18	28659808	C	A	18	31079842	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.97588300873989	0.702
18	28659808	C	G	18	31079842	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.945068747423513	0.822
18	28659808	C	T	18	31079842	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999117458305276	0.768
18	28659809	T	A	18	31079843	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.266563610734987	0.272
18	28659809	T	C	18	31079843	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.542650086344677	0.318
18	28659809	T	G	18	31079843	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.379438550252203	0.316
18	28659810	T	A	18	31079844	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.976765027079123	0.634
18	28659810	T	C	18	31079844	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00832506059940394	0.18
18	28659810	T	G	18	31079844	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.900402596633886	0.628
18	28659811	A	C	18	31079845	y	y	splicing	DSC2(NM_024422:exon12:c.1663+2T>G;NM_004949:exon12:c.1663+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1663+2T>G;ENST00000280904:exon12:c.1663+2T>G)	.	.	0.999993519952936	0.928
18	28659811	A	G	18	31079845	y	y	splicing	DSC2(NM_024422:exon12:c.1663+2T>C;NM_004949:exon12:c.1663+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1663+2T>C;ENST00000280904:exon12:c.1663+2T>C)	.	.	0.993596150545159	0.586
18	28659811	A	T	18	31079845	y	y	splicing	DSC2(NM_024422:exon12:c.1663+2T>A;NM_004949:exon12:c.1663+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1663+2T>A;ENST00000280904:exon12:c.1663+2T>A)	.	.	0.999993519952936	0.928
18	28659812	C	A	18	31079846	y	y	splicing	DSC2(NM_024422:exon12:c.1663+1G>T;NM_004949:exon12:c.1663+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1663+1G>T;ENST00000280904:exon12:c.1663+1G>T)	.	.	0.999983962310335	0.926
18	28659812	C	G	18	31079846	y	y	splicing	DSC2(NM_024422:exon12:c.1663+1G>C;NM_004949:exon12:c.1663+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1663+1G>C;ENST00000280904:exon12:c.1663+1G>C)	.	.	0.999983962310335	0.926
18	28659812	C	T	18	31079846	y	y	splicing	DSC2(NM_024422:exon12:c.1663+1G>A;NM_004949:exon12:c.1663+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1663+1G>A;ENST00000280904:exon12:c.1663+1G>A)	.	.	0.999983962310335	0.926
18	28659813	C	A	18	31079847	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon11:c.G1663T:p.G555X;DSC2:NM_004949:exon11:c.G1663T:p.G555X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon11:c.G1663T:p.G555X;ENSG00000134755:ENST00000251081:exon11:c.G1663T:p.G555X;	0.985056530668515	0.67
18	28659813	C	G	18	31079847	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.G1663C:p.G555R;DSC2:NM_004949:exon11:c.G1663C:p.G555R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.G1663C:p.G555R;ENSG00000134755:ENST00000251081:exon11:c.G1663C:p.G555R;	0.914786936939673	0.662
18	28659813	C	T	18	31079847	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.G1663A:p.G555R;DSC2:NM_004949:exon11:c.G1663A:p.G555R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.G1663A:p.G555R;ENSG00000134755:ENST00000251081:exon11:c.G1663A:p.G555R;	0.692365887457345	0.72
18	28659814	T	A	18	31079848	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.A1662T:p.Q554H;DSC2:NM_004949:exon11:c.A1662T:p.Q554H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.A1662T:p.Q554H;ENSG00000134755:ENST00000251081:exon11:c.A1662T:p.Q554H;	0.826024240261991	0.538
18	28659814	T	C	18	31079848	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon11:c.A1662G:p.Q554Q;DSC2:NM_004949:exon11:c.A1662G:p.Q554Q;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.A1662G:p.Q554Q;ENSG00000134755:ENST00000251081:exon11:c.A1662G:p.Q554Q;	0.32866501335522	0.298
18	28659814	T	G	18	31079848	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.A1662C:p.Q554H;DSC2:NM_004949:exon11:c.A1662C:p.Q554H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.A1662C:p.Q554H;ENSG00000134755:ENST00000251081:exon11:c.A1662C:p.Q554H;	0.718465358073237	0.664
18	28659815	T	A	18	31079849	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.A1661T:p.Q554L;DSC2:NM_004949:exon11:c.A1661T:p.Q554L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.A1661T:p.Q554L;ENSG00000134755:ENST00000251081:exon11:c.A1661T:p.Q554L;	0.00115287866599752	0.174
18	28659815	T	C	18	31079849	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.A1661G:p.Q554R;DSC2:NM_004949:exon11:c.A1661G:p.Q554R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.A1661G:p.Q554R;ENSG00000134755:ENST00000251081:exon11:c.A1661G:p.Q554R;	4.22027301839741E-5	0.008
18	28659815	T	G	18	31079849	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.A1661C:p.Q554P;DSC2:NM_004949:exon11:c.A1661C:p.Q554P;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.A1661C:p.Q554P;ENSG00000134755:ENST00000251081:exon11:c.A1661C:p.Q554P;	1.59412693371013E-4	0.034
18	28659954	A	C	18	31079988	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.T1522G:p.Y508D;DSC2:NM_004949:exon11:c.T1522G:p.Y508D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.T1522G:p.Y508D;ENSG00000134755:ENST00000251081:exon11:c.T1522G:p.Y508D;	0.867818592484084	0.452
18	28659954	A	G	18	31079988	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.T1522C:p.Y508H;DSC2:NM_004949:exon11:c.T1522C:p.Y508H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.T1522C:p.Y508H;ENSG00000134755:ENST00000251081:exon11:c.T1522C:p.Y508H;	0.87202334946946	0.456
18	28659954	A	T	18	31079988	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.T1522A:p.Y508N;DSC2:NM_004949:exon11:c.T1522A:p.Y508N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.T1522A:p.Y508N;ENSG00000134755:ENST00000251081:exon11:c.T1522A:p.Y508N;	0.81605224348975	0.414
18	28659955	C	A	18	31079989	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.G1521T:p.R507S;DSC2:NM_004949:exon11:c.G1521T:p.R507S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.G1521T:p.R507S;ENSG00000134755:ENST00000251081:exon11:c.G1521T:p.R507S;	0.998696651063998	0.812
18	28659955	C	G	18	31079989	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon11:c.G1521C:p.R507S;DSC2:NM_004949:exon11:c.G1521C:p.R507S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.G1521C:p.R507S;ENSG00000134755:ENST00000251081:exon11:c.G1521C:p.R507S;	0.991534198655894	0.708
18	28659955	C	T	18	31079989	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon11:c.G1521A:p.R507R;DSC2:NM_004949:exon11:c.G1521A:p.R507R;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon11:c.G1521A:p.R507R;ENSG00000134755:ENST00000251081:exon11:c.G1521A:p.R507R;	0.0123965263299283	0.304
18	28659956	C	A	18	31079990	y	y	splicing	DSC2(NM_024422:exon12:c.1521-1G>T;NM_004949:exon12:c.1521-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1521-1G>T;ENST00000280904:exon12:c.1521-1G>T)	.	.	0.999984967332678	0.938
18	28659956	C	G	18	31079990	y	y	splicing	DSC2(NM_024422:exon12:c.1521-1G>C;NM_004949:exon12:c.1521-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1521-1G>C;ENST00000280904:exon12:c.1521-1G>C)	.	.	0.999984967332678	0.938
18	28659956	C	T	18	31079990	y	y	splicing	DSC2(NM_024422:exon12:c.1521-1G>A;NM_004949:exon12:c.1521-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1521-1G>A;ENST00000280904:exon12:c.1521-1G>A)	.	.	0.999984967332678	0.938
18	28659957	T	A	18	31079991	y	y	splicing	DSC2(NM_024422:exon12:c.1521-2A>T;NM_004949:exon12:c.1521-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1521-2A>T;ENST00000280904:exon12:c.1521-2A>T)	.	.	0.999986741007567	0.942
18	28659957	T	C	18	31079991	y	y	splicing	DSC2(NM_024422:exon12:c.1521-2A>G;NM_004949:exon12:c.1521-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1521-2A>G;ENST00000280904:exon12:c.1521-2A>G)	.	.	0.999986741007567	0.942
18	28659957	T	G	18	31079991	y	y	splicing	DSC2(NM_024422:exon12:c.1521-2A>C;NM_004949:exon12:c.1521-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon12:c.1521-2A>C;ENST00000280904:exon12:c.1521-2A>C)	.	.	0.999986741007567	0.942
18	28659958	G	A	18	31079992	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00378825911057683	0.134
18	28659958	G	C	18	31079992	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999615399131691	0.792
18	28659958	G	T	18	31079992	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.931556654240358	0.818
18	28659959	T	A	18	31079993	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0313973370396391	0.164
18	28659959	T	C	18	31079993	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998230065824007	0.932
18	28659959	T	G	18	31079993	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.18554835448397E-4	0.126
18	28659960	T	A	18	31079994	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.95971644023648E-5	0.054
18	28659960	T	C	18	31079994	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00219375417423072	0.222
18	28659960	T	G	18	31079994	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.60355179504707E-5	0.05
18	28659961	G	A	18	31079995	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.42696136654406E-5	0.026
18	28659961	G	C	18	31079995	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0609103246046397	0.35
18	28659961	G	T	18	31079995	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00326696869884176	0.17
18	28659962	G	A	18	31079996	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.3779666187099E-5	0.002
18	28659962	G	C	18	31079996	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999890631003202	0.964
18	28659962	G	T	18	31079996	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00110120012128017	0.104
18	28659963	T	A	18	31079997	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.16646760498203E-5	0.048
18	28659963	T	C	18	31079997	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.49968733443912E-4	0.018
18	28659963	T	G	18	31079997	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.22809463481792E-4	0.026
18	28659964	A	C	18	31079998	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0755685465508179	0.394
18	28659964	A	G	18	31079998	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.56690090063562E-4	0.046
18	28659964	A	T	18	31079998	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0184872559125129	0.332
18	28659965	A	C	18	31079999	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99994007652913	0.986
18	28659965	A	G	18	31079999	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0274395868437095	0.238
18	28659965	A	T	18	31079999	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.985177591722359	0.756
18	28659966	T	A	18	31080000	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.12454738979945E-4	0.116
18	28659966	T	C	18	31080000	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.42516232338062E-4	0.01
18	28659966	T	G	18	31080000	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.27634489115512E-5	0.002
18	28659967	G	A	18	31080001	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.40925337243703E-4	0.0
18	28659967	G	C	18	31080001	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00320246537727615	0.066
18	28659967	G	T	18	31080001	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0118859317303448	0.05
18	28660054	G	A	18	31080088	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.03036686586254E-5	0.002
18	28660054	G	C	18	31080088	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.35631824839774E-5	0.056
18	28660054	G	T	18	31080088	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.9633627458284E-5	0.002
18	28660055	T	A	18	31080089	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.03771570187182E-5	0.002
18	28660055	T	C	18	31080089	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.93718364281858E-5	0.002
18	28660055	T	G	18	31080089	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.82152694110954E-6	0.0
18	28660056	A	C	18	31080090	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00163391886751104	0.222
18	28660056	A	G	18	31080090	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0332378832266898	0.358
18	28660056	A	T	18	31080090	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0132868993158764	0.202
18	28660057	A	C	18	31080091	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.36527852114982E-5	0.02
18	28660057	A	G	18	31080091	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.47000725532772E-5	0.0
18	28660057	A	T	18	31080091	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.9022538888689E-5	0.038
18	28660058	G	A	18	31080092	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.63429207270205E-4	0.04
18	28660058	G	C	18	31080092	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00135440471372487	0.14
18	28660058	G	T	18	31080092	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.23416375606726E-5	0.018
18	28660059	T	A	18	31080093	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.982135241949286	0.798
18	28660059	T	C	18	31080093	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.934964753652526	0.732
18	28660059	T	G	18	31080093	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999907273238043	0.88
18	28660060	A	C	18	31080094	y	y	splicing	DSC2(NM_024422:exon11:c.1520+2T>G;NM_004949:exon11:c.1520+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1520+2T>G;ENST00000280904:exon11:c.1520+2T>G)	.	.	0.999988247793601	0.932
18	28660060	A	G	18	31080094	y	y	splicing	DSC2(NM_024422:exon11:c.1520+2T>C;NM_004949:exon11:c.1520+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1520+2T>C;ENST00000280904:exon11:c.1520+2T>C)	.	.	0.992783534660112	0.696
18	28660060	A	T	18	31080094	y	y	splicing	DSC2(NM_024422:exon11:c.1520+2T>A;NM_004949:exon11:c.1520+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1520+2T>A;ENST00000280904:exon11:c.1520+2T>A)	.	.	0.999988247793601	0.932
18	28660061	C	A	18	31080095	y	y	splicing	DSC2(NM_024422:exon11:c.1520+1G>T;NM_004949:exon11:c.1520+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1520+1G>T;ENST00000280904:exon11:c.1520+1G>T)	.	.	0.999990361384395	0.938
18	28660061	C	G	18	31080095	y	y	splicing	DSC2(NM_024422:exon11:c.1520+1G>C;NM_004949:exon11:c.1520+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1520+1G>C;ENST00000280904:exon11:c.1520+1G>C)	.	.	0.999990361384395	0.938
18	28660061	C	T	18	31080095	y	y	splicing	DSC2(NM_024422:exon11:c.1520+1G>A;NM_004949:exon11:c.1520+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1520+1G>A;ENST00000280904:exon11:c.1520+1G>A)	.	.	0.999990361384395	0.938
18	28660062	C	A	18	31080096	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.G1520T:p.R507M;DSC2:NM_004949:exon10:c.G1520T:p.R507M;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.G1520T:p.R507M;ENSG00000134755:ENST00000251081:exon10:c.G1520T:p.R507M;	0.99999472714644	0.988
18	28660062	C	G	18	31080096	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.G1520C:p.R507T;DSC2:NM_004949:exon10:c.G1520C:p.R507T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.G1520C:p.R507T;ENSG00000134755:ENST00000251081:exon10:c.G1520C:p.R507T;	0.999948994583808	0.996
18	28660062	C	T	18	31080096	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.G1520A:p.R507K;DSC2:NM_004949:exon10:c.G1520A:p.R507K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.G1520A:p.R507K;ENSG00000134755:ENST00000251081:exon10:c.G1520A:p.R507K;	0.999990188517453	1.0
18	28660063	T	A	18	31080097	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.A1519T:p.R507W;DSC2:NM_004949:exon10:c.A1519T:p.R507W;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.A1519T:p.R507W;ENSG00000134755:ENST00000251081:exon10:c.A1519T:p.R507W;	0.999948494867595	1.0
18	28660063	T	C	18	31080097	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.A1519G:p.R507G;DSC2:NM_004949:exon10:c.A1519G:p.R507G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.A1519G:p.R507G;ENSG00000134755:ENST00000251081:exon10:c.A1519G:p.R507G;	0.999932605517636	0.998
18	28660063	T	G	18	31080097	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon10:c.A1519C:p.R507R;DSC2:NM_004949:exon10:c.A1519C:p.R507R;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.A1519C:p.R507R;ENSG00000134755:ENST00000251081:exon10:c.A1519C:p.R507R;	0.998895226138619	0.95
18	28660064	T	A	18	31080098	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon10:c.A1518T:p.I506I;DSC2:NM_004949:exon10:c.A1518T:p.I506I;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.A1518T:p.I506I;ENSG00000134755:ENST00000251081:exon10:c.A1518T:p.I506I;	0.382946612312382	0.524
18	28660064	T	C	18	31080098	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.A1518G:p.I506M;DSC2:NM_004949:exon10:c.A1518G:p.I506M;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.A1518G:p.I506M;ENSG00000134755:ENST00000251081:exon10:c.A1518G:p.I506M;	5.49351042084763E-4	0.084
18	28660064	T	G	18	31080098	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon10:c.A1518C:p.I506I;DSC2:NM_004949:exon10:c.A1518C:p.I506I;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.A1518C:p.I506I;ENSG00000134755:ENST00000251081:exon10:c.A1518C:p.I506I;	1.77739817899799E-4	0.0
18	28660317	G	A	18	31080351	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.C1265T:p.P422L;DSC2:NM_004949:exon10:c.C1265T:p.P422L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.C1265T:p.P422L;ENSG00000134755:ENST00000251081:exon10:c.C1265T:p.P422L;	0.0263059296501451	0.256
18	28660317	G	C	18	31080351	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.C1265G:p.P422R;DSC2:NM_004949:exon10:c.C1265G:p.P422R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.C1265G:p.P422R;ENSG00000134755:ENST00000251081:exon10:c.C1265G:p.P422R;	9.93899588546705E-4	0.04
18	28660317	G	T	18	31080351	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.C1265A:p.P422H;DSC2:NM_004949:exon10:c.C1265A:p.P422H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.C1265A:p.P422H;ENSG00000134755:ENST00000251081:exon10:c.C1265A:p.P422H;	0.00693976789391457	0.086
18	28660318	G	A	18	31080352	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.C1264T:p.P422S;DSC2:NM_004949:exon10:c.C1264T:p.P422S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.C1264T:p.P422S;ENSG00000134755:ENST00000251081:exon10:c.C1264T:p.P422S;	0.92601979497816	0.736
18	28660318	G	C	18	31080352	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.C1264G:p.P422A;DSC2:NM_004949:exon10:c.C1264G:p.P422A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.C1264G:p.P422A;ENSG00000134755:ENST00000251081:exon10:c.C1264G:p.P422A;	0.00511145974187998	0.092
18	28660318	G	T	18	31080352	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon10:c.C1264A:p.P422T;DSC2:NM_004949:exon10:c.C1264A:p.P422T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon10:c.C1264A:p.P422T;ENSG00000134755:ENST00000251081:exon10:c.C1264A:p.P422T;	0.243050416661663	0.478
18	28660319	C	A	18	31080353	y	y	splicing	DSC2(NM_024422:exon11:c.1264-1G>T;NM_004949:exon11:c.1264-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1264-1G>T;ENST00000280904:exon11:c.1264-1G>T)	.	.	0.999968560109063	0.968
18	28660319	C	G	18	31080353	y	y	splicing	DSC2(NM_024422:exon11:c.1264-1G>C;NM_004949:exon11:c.1264-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1264-1G>C;ENST00000280904:exon11:c.1264-1G>C)	.	.	0.999968849989454	0.968
18	28660319	C	T	18	31080353	y	y	splicing	DSC2(NM_024422:exon11:c.1264-1G>A;NM_004949:exon11:c.1264-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1264-1G>A;ENST00000280904:exon11:c.1264-1G>A)	.	.	0.999968560109063	0.968
18	28660320	T	A	18	31080354	y	y	splicing	DSC2(NM_024422:exon11:c.1264-2A>T;NM_004949:exon11:c.1264-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1264-2A>T;ENST00000280904:exon11:c.1264-2A>T)	.	.	0.99994568797423	0.948
18	28660320	T	C	18	31080354	y	y	splicing	DSC2(NM_024422:exon11:c.1264-2A>G;NM_004949:exon11:c.1264-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1264-2A>G;ENST00000280904:exon11:c.1264-2A>G)	.	.	0.99994568797423	0.96
18	28660320	T	G	18	31080354	y	y	splicing	DSC2(NM_024422:exon11:c.1264-2A>C;NM_004949:exon11:c.1264-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon11:c.1264-2A>C;ENST00000280904:exon11:c.1264-2A>C)	.	.	0.99994568797423	0.96
18	28660321	A	C	18	31080355	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.992868872949183	0.646
18	28660321	A	G	18	31080355	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.19907419915693E-5	0.012
18	28660321	A	T	18	31080355	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0108788273153784	0.31
18	28660322	C	A	18	31080356	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.33971064426227E-5	0.004
18	28660322	C	G	18	31080356	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.83615359148457E-5	0.0
18	28660322	C	T	18	31080356	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.64242679124494E-5	0.0
18	28660323	G	A	18	31080357	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.28761696296589E-5	0.0
18	28660323	G	C	18	31080357	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00183814102352217	0.144
18	28660323	G	T	18	31080357	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998976096468814	0.926
18	28660324	A	C	18	31080358	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00673733622952801	0.344
18	28660324	A	G	18	31080358	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.73026013389048E-4	0.026
18	28660324	A	T	18	31080358	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.138215383401276	0.428
18	28660325	A	C	18	31080359	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00485937978376037	0.094
18	28660325	A	G	18	31080359	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.03257660864031E-4	0.004
18	28660325	A	T	18	31080359	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.122677253188723	0.39
18	28660326	A	C	18	31080360	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.85169286557538E-4	0.188
18	28660326	A	G	18	31080360	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.86151754766341E-5	0.06
18	28660326	A	T	18	31080360	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0143284547485474	0.244
18	28660327	G	A	18	31080361	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.35082844333272E-5	0.002
18	28660327	G	C	18	31080361	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.78916374698816E-4	0.05
18	28660327	G	T	18	31080361	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.38858700727984E-4	0.014
18	28660328	C	A	18	31080362	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.70096446910855E-5	0.004
18	28660328	C	G	18	31080362	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.75516837166016E-5	0.006
18	28660328	C	T	18	31080362	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.67689461901732E-4	0.038
18	28660329	A	C	18	31080363	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.979425422189756	0.788
18	28660329	A	G	18	31080363	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0677712427741512	0.342
18	28660329	A	T	18	31080363	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99991594062146	0.982
18	28660330	A	C	18	31080364	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00363952666672432	0.148
18	28660330	A	G	18	31080364	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00183389102826852	0.09
18	28660330	A	T	18	31080364	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0329764813292057	0.208
18	28662196	A	C	18	31082230	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.82179268262311E-5	0.002
18	28662196	A	G	18	31082230	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.82179268262311E-5	0.002
18	28662196	A	T	18	31082230	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.12877727083204E-5	0.002
18	28662197	T	A	18	31082231	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.45765818403662E-5	0.0
18	28662197	T	C	18	31082231	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.3963922568071E-5	0.0
18	28662197	T	G	18	31082231	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.09150465968318E-5	0.0
18	28662198	T	A	18	31082232	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.7714256912547E-4	0.008
18	28662198	T	C	18	31082232	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.05256105296877E-4	0.006
18	28662198	T	G	18	31082232	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00137657644184218	0.054
18	28662199	C	A	18	31082233	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.737998120006624	0.648
18	28662199	C	G	18	31082233	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.518327184677325	0.628
18	28662199	C	T	18	31082233	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.874492395473228	0.7
18	28662200	T	A	18	31082234	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.646499121923435	0.548
18	28662200	T	C	18	31082234	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.680651694522755	0.494
18	28662200	T	G	18	31082234	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.38243107531607	0.57
18	28662201	T	A	18	31082235	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.888691595088964	0.692
18	28662201	T	C	18	31082235	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.314957927752826	0.306
18	28662201	T	G	18	31082235	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.988127534917838	0.748
18	28662202	A	C	18	31082236	y	y	splicing	DSC2(NM_024422:exon10:c.1263+2T>G;NM_004949:exon10:c.1263+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1263+2T>G;ENST00000280904:exon10:c.1263+2T>G)	.	.	0.999988247793601	0.928
18	28662202	A	G	18	31082236	y	y	splicing	DSC2(NM_024422:exon10:c.1263+2T>C;NM_004949:exon10:c.1263+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1263+2T>C;ENST00000280904:exon10:c.1263+2T>C)	.	.	0.98918007292081	0.632
18	28662202	A	T	18	31082236	y	y	splicing	DSC2(NM_024422:exon10:c.1263+2T>A;NM_004949:exon10:c.1263+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1263+2T>A;ENST00000280904:exon10:c.1263+2T>A)	.	.	0.999988247793601	0.928
18	28662203	C	A	18	31082237	y	y	splicing	DSC2(NM_024422:exon10:c.1263+1G>T;NM_004949:exon10:c.1263+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1263+1G>T;ENST00000280904:exon10:c.1263+1G>T)	.	.	0.999985532734767	0.936
18	28662203	C	G	18	31082237	y	y	splicing	DSC2(NM_024422:exon10:c.1263+1G>C;NM_004949:exon10:c.1263+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1263+1G>C;ENST00000280904:exon10:c.1263+1G>C)	.	.	0.999985532734767	0.936
18	28662203	C	T	18	31082237	y	y	splicing	DSC2(NM_024422:exon10:c.1263+1G>A;NM_004949:exon10:c.1263+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1263+1G>A;ENST00000280904:exon10:c.1263+1G>A)	.	.	0.999985532734767	0.938
18	28662204	C	A	18	31082238	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.G1263T:p.K421N;DSC2:NM_004949:exon9:c.G1263T:p.K421N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.G1263T:p.K421N;ENSG00000134755:ENST00000251081:exon9:c.G1263T:p.K421N;	0.999791889737976	0.972
18	28662204	C	G	18	31082238	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.G1263C:p.K421N;DSC2:NM_004949:exon9:c.G1263C:p.K421N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.G1263C:p.K421N;ENSG00000134755:ENST00000251081:exon9:c.G1263C:p.K421N;	0.999917639479973	0.918
18	28662204	C	T	18	31082238	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon9:c.G1263A:p.K421K;DSC2:NM_004949:exon9:c.G1263A:p.K421K;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.G1263A:p.K421K;ENSG00000134755:ENST00000251081:exon9:c.G1263A:p.K421K;	0.902665058470961	0.806
18	28662205	T	A	18	31082239	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.A1262T:p.K421M;DSC2:NM_004949:exon9:c.A1262T:p.K421M;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.A1262T:p.K421M;ENSG00000134755:ENST00000251081:exon9:c.A1262T:p.K421M;	0.589754529035913	0.542
18	28662205	T	C	18	31082239	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.A1262G:p.K421R;DSC2:NM_004949:exon9:c.A1262G:p.K421R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.A1262G:p.K421R;ENSG00000134755:ENST00000251081:exon9:c.A1262G:p.K421R;	0.6782228229599	0.626
18	28662205	T	G	18	31082239	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.A1262C:p.K421T;DSC2:NM_004949:exon9:c.A1262C:p.K421T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.A1262C:p.K421T;ENSG00000134755:ENST00000251081:exon9:c.A1262C:p.K421T;	0.588147411696501	0.65
18	28662206	T	A	18	31082240	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon9:c.A1261T:p.K421X;DSC2:NM_004949:exon9:c.A1261T:p.K421X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon9:c.A1261T:p.K421X;ENSG00000134755:ENST00000251081:exon9:c.A1261T:p.K421X;	0.95209035116086	0.612
18	28662206	T	C	18	31082240	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.A1261G:p.K421E;DSC2:NM_004949:exon9:c.A1261G:p.K421E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.A1261G:p.K421E;ENSG00000134755:ENST00000251081:exon9:c.A1261G:p.K421E;	0.236362388082401	0.37
18	28662206	T	G	18	31082240	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.A1261C:p.K421Q;DSC2:NM_004949:exon9:c.A1261C:p.K421Q;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.A1261C:p.K421Q;ENSG00000134755:ENST00000251081:exon9:c.A1261C:p.K421Q;	0.784663963687229	0.544
18	28662388	T	A	18	31082422	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.A1079T:p.Y360F;DSC2:NM_004949:exon9:c.A1079T:p.Y360F;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.A1079T:p.Y360F;ENSG00000134755:ENST00000251081:exon9:c.A1079T:p.Y360F;	0.70482677594905	0.622
18	28662388	T	C	18	31082422	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.A1079G:p.Y360C;DSC2:NM_004949:exon9:c.A1079G:p.Y360C;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.A1079G:p.Y360C;ENSG00000134755:ENST00000251081:exon9:c.A1079G:p.Y360C;	0.791107892395602	0.51
18	28662388	T	G	18	31082422	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.A1079C:p.Y360S;DSC2:NM_004949:exon9:c.A1079C:p.Y360S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.A1079C:p.Y360S;ENSG00000134755:ENST00000251081:exon9:c.A1079C:p.Y360S;	0.940494228904364	0.796
18	28662389	A	C	18	31082423	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.T1078G:p.Y360D;DSC2:NM_004949:exon9:c.T1078G:p.Y360D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.T1078G:p.Y360D;ENSG00000134755:ENST00000251081:exon9:c.T1078G:p.Y360D;	0.798959741492545	0.462
18	28662389	A	G	18	31082423	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.T1078C:p.Y360H;DSC2:NM_004949:exon9:c.T1078C:p.Y360H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.T1078C:p.Y360H;ENSG00000134755:ENST00000251081:exon9:c.T1078C:p.Y360H;	0.892996827435646	0.574
18	28662389	A	T	18	31082423	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon9:c.T1078A:p.Y360N;DSC2:NM_004949:exon9:c.T1078A:p.Y360N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon9:c.T1078A:p.Y360N;ENSG00000134755:ENST00000251081:exon9:c.T1078A:p.Y360N;	0.713248387380696	0.636
18	28662390	C	A	18	31082424	y	y	splicing	DSC2(NM_024422:exon10:c.1078-1G>T;NM_004949:exon10:c.1078-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1078-1G>T;ENST00000280904:exon10:c.1078-1G>T)	.	.	0.99995586615188	0.948
18	28662390	C	G	18	31082424	y	y	splicing	DSC2(NM_024422:exon10:c.1078-1G>C;NM_004949:exon10:c.1078-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1078-1G>C;ENST00000280904:exon10:c.1078-1G>C)	.	.	0.99995586615188	0.946
18	28662390	C	T	18	31082424	y	y	splicing	DSC2(NM_024422:exon10:c.1078-1G>A;NM_004949:exon10:c.1078-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1078-1G>A;ENST00000280904:exon10:c.1078-1G>A)	.	.	0.99995586615188	0.936
18	28662391	T	A	18	31082425	y	y	splicing	DSC2(NM_024422:exon10:c.1078-2A>T;NM_004949:exon10:c.1078-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1078-2A>T;ENST00000280904:exon10:c.1078-2A>T)	.	.	0.999946188727699	0.946
18	28662391	T	C	18	31082425	y	y	splicing	DSC2(NM_024422:exon10:c.1078-2A>G;NM_004949:exon10:c.1078-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1078-2A>G;ENST00000280904:exon10:c.1078-2A>G)	.	.	0.999946188727699	0.94
18	28662391	T	G	18	31082425	y	y	splicing	DSC2(NM_024422:exon10:c.1078-2A>C;NM_004949:exon10:c.1078-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon10:c.1078-2A>C;ENST00000280904:exon10:c.1078-2A>C)	.	.	0.999946188727699	0.94
18	28662392	A	C	18	31082426	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998882769351992	0.712
18	28662392	A	G	18	31082426	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.58224277466074E-4	0.036
18	28662392	A	T	18	31082426	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.020590746392859	0.33
18	28662393	A	C	18	31082427	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.002757015339342	0.04
18	28662393	A	G	18	31082427	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.29286128269966E-5	0.016
18	28662393	A	T	18	31082427	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00122469756194257	0.026
18	28662394	A	C	18	31082428	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.974070852825958	0.532
18	28662394	A	G	18	31082428	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0245086120750602	0.188
18	28662394	A	T	18	31082428	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.942682594887982	0.496
18	28662395	A	C	18	31082429	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999233350538419	0.958
18	28662395	A	G	18	31082429	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.08126043028504E-5	0.008
18	28662395	A	T	18	31082429	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.10236734478758	0.336
18	28662396	T	A	18	31082430	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.24965689460532E-5	0.0
18	28662396	T	C	18	31082430	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.30097906909282E-5	0.0
18	28662396	T	G	18	31082430	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.24965689460532E-5	0.0
18	28662397	A	C	18	31082431	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00333504362816557	0.198
18	28662397	A	G	18	31082431	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.87523649871542E-5	0.0
18	28662397	A	T	18	31082431	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00522064894618841	0.166
18	28662398	A	C	18	31082432	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999899678236985	0.962
18	28662398	A	G	18	31082432	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00549089180470559	0.172
18	28662398	A	T	18	31082432	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.716704578857328	0.674
18	28662399	T	A	18	31082433	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.39454833255494E-5	0.014
18	28662399	T	C	18	31082433	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.19240629421157E-5	0.006
18	28662399	T	G	18	31082433	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.9729376728029E-5	0.002
18	28662400	A	C	18	31082434	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.115676914322103	0.404
18	28662400	A	G	18	31082434	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.99217377178969E-4	0.052
18	28662400	A	T	18	31082434	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.180508721918048	0.406
18	28662401	A	C	18	31082435	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00585010111992281	0.16
18	28662401	A	G	18	31082435	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.08495791269886E-5	0.0
18	28662401	A	T	18	31082435	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00788205842668567	0.164
18	28662884	A	C	18	31082918	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.18418570979667E-5	0.006
18	28662884	A	G	18	31082918	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.18418570979667E-5	0.004
18	28662884	A	T	18	31082918	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.65030834412167E-5	0.004
18	28662885	C	A	18	31082919	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.6897462371413E-4	0.01
18	28662885	C	G	18	31082919	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.11051055797707E-5	0.002
18	28662885	C	T	18	31082919	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.27002418871074E-4	0.002
18	28662886	A	C	18	31082920	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.892916399981719	0.73
18	28662886	A	G	18	31082920	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.982080095300492	0.846
18	28662886	A	T	18	31082920	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.962920949673329	0.724
18	28662887	C	A	18	31082921	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999959066031812	0.994
18	28662887	C	G	18	31082921	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999970633514732	0.986
18	28662887	C	T	18	31082921	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999967092417843	0.998
18	28662888	T	A	18	31082922	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.987618550009834	0.858
18	28662888	T	C	18	31082922	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.997260970493555	0.886
18	28662888	T	G	18	31082922	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998513431393457	0.776
18	28662889	T	A	18	31082923	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998090088179802	0.816
18	28662889	T	C	18	31082923	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.46866266320187E-4	0.036
18	28662889	T	G	18	31082923	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.998558830074427	0.826
18	28662890	A	C	18	31082924	y	y	splicing	DSC2(NM_024422:exon9:c.1077+2T>G;NM_004949:exon9:c.1077+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.1077+2T>G;ENST00000280904:exon9:c.1077+2T>G)	.	.	0.999986903042585	0.926
18	28662890	A	G	18	31082924	y	y	splicing	DSC2(NM_024422:exon9:c.1077+2T>C;NM_004949:exon9:c.1077+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.1077+2T>C;ENST00000280904:exon9:c.1077+2T>C)	.	.	0.999316435241359	0.758
18	28662890	A	T	18	31082924	y	y	splicing	DSC2(NM_024422:exon9:c.1077+2T>A;NM_004949:exon9:c.1077+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.1077+2T>A;ENST00000280904:exon9:c.1077+2T>A)	.	.	0.999986903042585	0.928
18	28662891	C	A	18	31082925	y	y	splicing	DSC2(NM_024422:exon9:c.1077+1G>T;NM_004949:exon9:c.1077+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.1077+1G>T;ENST00000280904:exon9:c.1077+1G>T)	.	.	0.999967335026411	0.936
18	28662891	C	G	18	31082925	y	y	splicing	DSC2(NM_024422:exon9:c.1077+1G>C;NM_004949:exon9:c.1077+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.1077+1G>C;ENST00000280904:exon9:c.1077+1G>C)	.	.	0.999967335026411	0.936
18	28662891	C	T	18	31082925	y	y	splicing	DSC2(NM_024422:exon9:c.1077+1G>A;NM_004949:exon9:c.1077+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.1077+1G>A;ENST00000280904:exon9:c.1077+1G>A)	.	.	0.999981760802075	0.938
18	28662892	A	C	18	31082926	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon8:c.T1077G:p.S359S;DSC2:NM_004949:exon8:c.T1077G:p.S359S;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T1077G:p.S359S;ENSG00000134755:ENST00000251081:exon8:c.T1077G:p.S359S;	1.39334376551747E-4	0.06
18	28662892	A	G	18	31082926	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon8:c.T1077C:p.S359S;DSC2:NM_004949:exon8:c.T1077C:p.S359S;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T1077C:p.S359S;ENSG00000134755:ENST00000251081:exon8:c.T1077C:p.S359S;	4.33556356735516E-4	0.104
18	28662892	A	T	18	31082926	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon8:c.T1077A:p.S359S;DSC2:NM_004949:exon8:c.T1077A:p.S359S;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T1077A:p.S359S;ENSG00000134755:ENST00000251081:exon8:c.T1077A:p.S359S;	3.55238018357243E-5	0.006
18	28662893	G	A	18	31082927	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.C1076T:p.S359F;DSC2:NM_004949:exon8:c.C1076T:p.S359F;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.C1076T:p.S359F;ENSG00000134755:ENST00000251081:exon8:c.C1076T:p.S359F;	0.0646636708467642	0.174
18	28662893	G	C	18	31082927	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.C1076G:p.S359C;DSC2:NM_004949:exon8:c.C1076G:p.S359C;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.C1076G:p.S359C;ENSG00000134755:ENST00000251081:exon8:c.C1076G:p.S359C;	0.980067506864694	0.816
18	28662893	G	T	18	31082927	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.C1076A:p.S359Y;DSC2:NM_004949:exon8:c.C1076A:p.S359Y;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.C1076A:p.S359Y;ENSG00000134755:ENST00000251081:exon8:c.C1076A:p.S359Y;	0.96548617548939	0.638
18	28662894	A	C	18	31082928	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.T1075G:p.S359A;DSC2:NM_004949:exon8:c.T1075G:p.S359A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T1075G:p.S359A;ENSG00000134755:ENST00000251081:exon8:c.T1075G:p.S359A;	1.94283997944788E-4	0.04
18	28662894	A	G	18	31082928	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.T1075C:p.S359P;DSC2:NM_004949:exon8:c.T1075C:p.S359P;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T1075C:p.S359P;ENSG00000134755:ENST00000251081:exon8:c.T1075C:p.S359P;	1.61409601786816E-4	0.018
18	28662894	A	T	18	31082928	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.T1075A:p.S359T;DSC2:NM_004949:exon8:c.T1075A:p.S359T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T1075A:p.S359T;ENSG00000134755:ENST00000251081:exon8:c.T1075A:p.S359T;	6.97134516295885E-5	0.0
18	28663025	A	C	18	31083059	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon8:c.T944G:p.L315X;DSC2:NM_004949:exon8:c.T944G:p.L315X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon8:c.T944G:p.L315X;ENSG00000134755:ENST00000251081:exon8:c.T944G:p.L315X;	0.201302095743839	0.578
18	28663025	A	G	18	31083059	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.T944C:p.L315S;DSC2:NM_004949:exon8:c.T944C:p.L315S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T944C:p.L315S;ENSG00000134755:ENST00000251081:exon8:c.T944C:p.L315S;	9.50073094277857E-5	0.048
18	28663025	A	T	18	31083059	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon8:c.T944A:p.L315X;DSC2:NM_004949:exon8:c.T944A:p.L315X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon8:c.T944A:p.L315X;ENSG00000134755:ENST00000251081:exon8:c.T944A:p.L315X;	0.20240744633578	0.582
18	28663026	A	C	18	31083060	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.T943G:p.L315V;DSC2:NM_004949:exon8:c.T943G:p.L315V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T943G:p.L315V;ENSG00000134755:ENST00000251081:exon8:c.T943G:p.L315V;	8.61600023625711E-5	0.154
18	28663026	A	G	18	31083060	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon8:c.T943C:p.L315L;DSC2:NM_004949:exon8:c.T943C:p.L315L;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T943C:p.L315L;ENSG00000134755:ENST00000251081:exon8:c.T943C:p.L315L;	1.16707173533995E-5	0.01
18	28663026	A	T	18	31083060	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon8:c.T943A:p.L315I;DSC2:NM_004949:exon8:c.T943A:p.L315I;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon8:c.T943A:p.L315I;ENSG00000134755:ENST00000251081:exon8:c.T943A:p.L315I;	4.76291919576649E-5	0.026
18	28663027	C	A	18	31083061	y	y	splicing	DSC2(NM_024422:exon9:c.943-1G>T;NM_004949:exon9:c.943-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.943-1G>T;ENST00000280904:exon9:c.943-1G>T)	.	.	0.999981760802075	0.944
18	28663027	C	G	18	31083061	y	y	splicing	DSC2(NM_024422:exon9:c.943-1G>C;NM_004949:exon9:c.943-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.943-1G>C;ENST00000280904:exon9:c.943-1G>C)	.	.	0.999981760802075	0.944
18	28663027	C	T	18	31083061	y	y	splicing	DSC2(NM_024422:exon9:c.943-1G>A;NM_004949:exon9:c.943-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.943-1G>A;ENST00000280904:exon9:c.943-1G>A)	.	.	0.999981760802075	0.944
18	28663028	T	A	18	31083062	y	y	splicing	DSC2(NM_024422:exon9:c.943-2A>T;NM_004949:exon9:c.943-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.943-2A>T;ENST00000280904:exon9:c.943-2A>T)	.	.	0.999989917668626	0.926
18	28663028	T	C	18	31083062	y	y	splicing	DSC2(NM_024422:exon9:c.943-2A>G;NM_004949:exon9:c.943-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.943-2A>G;ENST00000280904:exon9:c.943-2A>G)	.	.	0.999989917668626	0.926
18	28663028	T	G	18	31083062	y	y	splicing	DSC2(NM_024422:exon9:c.943-2A>C;NM_004949:exon9:c.943-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon9:c.943-2A>C;ENST00000280904:exon9:c.943-2A>C)	.	.	0.999989917668626	0.926
18	28663029	G	A	18	31083063	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.202875893515059	0.332
18	28663029	G	C	18	31083063	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999927222722529	0.962
18	28663029	G	T	18	31083063	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.897132932163773	0.586
18	28663030	A	C	18	31083064	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.25828687922089E-4	0.018
18	28663030	A	G	18	31083064	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.97316985575312E-5	0.01
18	28663030	A	T	18	31083064	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.54061241330751E-4	0.01
18	28663031	A	C	18	31083065	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0352021004925598	0.348
18	28663031	A	G	18	31083065	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0101135271535226	0.1
18	28663031	A	T	18	31083065	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0641203592813568	0.35
18	28663032	A	C	18	31083066	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00196585101564473	0.27
18	28663032	A	G	18	31083066	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.94477828515665E-4	0.04
18	28663032	A	T	18	31083066	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00695479042118619	0.204
18	28663033	A	C	18	31083067	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.59875680807062E-4	0.056
18	28663033	A	G	18	31083067	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.26293795308651E-4	0.004
18	28663033	A	T	18	31083067	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00189285635661921	0.1
18	28663034	C	A	18	31083068	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.59412821382248E-5	0.006
18	28663034	C	G	18	31083068	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.96106249246542E-5	0.008
18	28663034	C	T	18	31083068	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.04460583171481E-4	0.014
18	28663035	A	C	18	31083069	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.32667589782819E-5	0.064
18	28663035	A	G	18	31083069	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.86209501637606E-5	0.042
18	28663035	A	T	18	31083069	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99882793020534	0.9
18	28663036	A	C	18	31083070	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.10072783400095E-4	0.094
18	28663036	A	G	18	31083070	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.31286965316952E-4	0.018
18	28663036	A	T	18	31083070	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00123428089853717	0.076
18	28663037	A	C	18	31083071	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.26671456077865E-4	0.14
18	28663037	A	G	18	31083071	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00107924123702866	0.008
18	28663037	A	T	18	31083071	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00142868782730659	0.164
18	28663038	A	C	18	31083072	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.20176906425408E-4	0.068
18	28663038	A	G	18	31083072	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.47387450107332E-4	0.018
18	28663038	A	T	18	31083072	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.39953796649917E-4	0.06
18	28666531	T	A	18	31086568	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.46438451434635E-5	0.0
18	28666531	T	C	18	31086568	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.90296496844087E-5	0.0
18	28666531	T	G	18	31086568	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.10357537072822E-5	0.094
18	28666532	A	C	18	31086569	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.68947342310866E-4	0.002
18	28666532	A	G	18	31086569	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.29405757193836E-5	0.0
18	28666532	A	T	18	31086569	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.86428719848276E-4	0.0
18	28666533	T	A	18	31086570	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.17040174753982E-5	0.0
18	28666533	T	C	18	31086570	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.97527625542681E-5	0.002
18	28666533	T	G	18	31086570	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.37761158145523E-4	0.01
18	28666534	G	A	18	31086571	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.11043794326007E-4	0.054
18	28666534	G	C	18	31086571	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.85443186193716E-4	0.056
18	28666534	G	T	18	31086571	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.49099654770806E-4	0.044
18	28666535	T	A	18	31086572	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.863572210279042	0.612
18	28666535	T	C	18	31086572	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.965141085949948	0.798
18	28666535	T	G	18	31086572	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.334520984515729	0.422
18	28666536	T	A	18	31086573	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99994431852563	0.978
18	28666536	T	C	18	31086573	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.997324550330513	0.89
18	28666536	T	G	18	31086573	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999926362983424	0.934
18	28666537	A	C	18	31086574	y	y	splicing	DSC2(NM_024422:exon8:c.942+2T>G;NM_004949:exon8:c.942+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.942+2T>G;ENST00000280904:exon8:c.942+2T>G)	.	.	0.999988247793601	0.936
18	28666537	A	G	18	31086574	y	y	splicing	DSC2(NM_024422:exon8:c.942+2T>C;NM_004949:exon8:c.942+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.942+2T>C;ENST00000280904:exon8:c.942+2T>C)	.	.	0.991245725732999	0.626
18	28666537	A	T	18	31086574	y	y	splicing	DSC2(NM_024422:exon8:c.942+2T>A;NM_004949:exon8:c.942+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.942+2T>A;ENST00000280904:exon8:c.942+2T>A)	.	.	0.999988247793601	0.936
18	28666538	C	A	18	31086575	y	y	splicing	DSC2(NM_024422:exon8:c.942+1G>T;NM_004949:exon8:c.942+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.942+1G>T;ENST00000280904:exon8:c.942+1G>T)	.	.	0.999986675681007	0.934
18	28666538	C	G	18	31086575	y	y	splicing	DSC2(NM_024422:exon8:c.942+1G>C;NM_004949:exon8:c.942+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.942+1G>C;ENST00000280904:exon8:c.942+1G>C)	.	.	0.999986675681007	0.934
18	28666538	C	T	18	31086575	y	y	splicing	DSC2(NM_024422:exon8:c.942+1G>A;NM_004949:exon8:c.942+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.942+1G>A;ENST00000280904:exon8:c.942+1G>A)	.	.	0.999986675681007	0.934
18	28666539	C	A	18	31086576	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.G942T:p.E314D;DSC2:NM_004949:exon7:c.G942T:p.E314D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.G942T:p.E314D;ENSG00000134755:ENST00000251081:exon7:c.G942T:p.E314D;	0.999987940526784	1.0
18	28666539	C	G	18	31086576	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.G942C:p.E314D;DSC2:NM_004949:exon7:c.G942C:p.E314D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.G942C:p.E314D;ENSG00000134755:ENST00000251081:exon7:c.G942C:p.E314D;	0.999992244487027	1.0
18	28666539	C	T	18	31086576	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon7:c.G942A:p.E314E;DSC2:NM_004949:exon7:c.G942A:p.E314E;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.G942A:p.E314E;ENSG00000134755:ENST00000251081:exon7:c.G942A:p.E314E;	0.999981814411367	1.0
18	28666540	T	A	18	31086577	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.A941T:p.E314V;DSC2:NM_004949:exon7:c.A941T:p.E314V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.A941T:p.E314V;ENSG00000134755:ENST00000251081:exon7:c.A941T:p.E314V;	0.999947862695264	0.988
18	28666540	T	C	18	31086577	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.A941G:p.E314G;DSC2:NM_004949:exon7:c.A941G:p.E314G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.A941G:p.E314G;ENSG00000134755:ENST00000251081:exon7:c.A941G:p.E314G;	0.999960432157196	0.992
18	28666540	T	G	18	31086577	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.A941C:p.E314A;DSC2:NM_004949:exon7:c.A941C:p.E314A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.A941C:p.E314A;ENSG00000134755:ENST00000251081:exon7:c.A941C:p.E314A;	0.999925932600004	0.99
18	28666541	C	A	18	31086578	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon7:c.G940T:p.E314X;DSC2:NM_004949:exon7:c.G940T:p.E314X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon7:c.G940T:p.E314X;ENSG00000134755:ENST00000251081:exon7:c.G940T:p.E314X;	0.995751706380216	0.776
18	28666541	C	G	18	31086578	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.G940C:p.E314Q;DSC2:NM_004949:exon7:c.G940C:p.E314Q;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.G940C:p.E314Q;ENSG00000134755:ENST00000251081:exon7:c.G940C:p.E314Q;	0.928781424966541	0.73
18	28666541	C	T	18	31086578	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.G940A:p.E314K;DSC2:NM_004949:exon7:c.G940A:p.E314K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.G940A:p.E314K;ENSG00000134755:ENST00000251081:exon7:c.G940A:p.E314K;	0.945653911282768	0.808
18	28666704	G	A	18	31086741	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon7:c.C777T:p.G259G;DSC2:NM_004949:exon7:c.C777T:p.G259G;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.C777T:p.G259G;ENSG00000134755:ENST00000251081:exon7:c.C777T:p.G259G;	1.56464402804176E-5	0.0
18	28666704	G	C	18	31086741	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon7:c.C777G:p.G259G;DSC2:NM_004949:exon7:c.C777G:p.G259G;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.C777G:p.G259G;ENSG00000134755:ENST00000251081:exon7:c.C777G:p.G259G;	3.74339888360258E-5	0.002
18	28666704	G	T	18	31086741	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon7:c.C777A:p.G259G;DSC2:NM_004949:exon7:c.C777A:p.G259G;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.C777A:p.G259G;ENSG00000134755:ENST00000251081:exon7:c.C777A:p.G259G;	7.2948457947617E-5	0.004
18	28666705	C	A	18	31086742	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.G776T:p.G259V;DSC2:NM_004949:exon7:c.G776T:p.G259V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.G776T:p.G259V;ENSG00000134755:ENST00000251081:exon7:c.G776T:p.G259V;	0.999780047617827	0.996
18	28666705	C	G	18	31086742	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.G776C:p.G259A;DSC2:NM_004949:exon7:c.G776C:p.G259A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.G776C:p.G259A;ENSG00000134755:ENST00000251081:exon7:c.G776C:p.G259A;	0.999649088573018	0.968
18	28666705	C	T	18	31086742	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon7:c.G776A:p.G259D;DSC2:NM_004949:exon7:c.G776A:p.G259D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon7:c.G776A:p.G259D;ENSG00000134755:ENST00000251081:exon7:c.G776A:p.G259D;	0.997604867017034	0.926
18	28666706	C	A	18	31086743	y	y	splicing	DSC2(NM_024422:exon8:c.776-1G>T;NM_004949:exon8:c.776-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.776-1G>T;ENST00000280904:exon8:c.776-1G>T)	.	.	0.999974090184857	0.93
18	28666706	C	G	18	31086743	y	y	splicing	DSC2(NM_024422:exon8:c.776-1G>C;NM_004949:exon8:c.776-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.776-1G>C;ENST00000280904:exon8:c.776-1G>C)	.	.	0.99993314117114	0.93
18	28666706	C	T	18	31086743	y	y	splicing	DSC2(NM_024422:exon8:c.776-1G>A;NM_004949:exon8:c.776-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.776-1G>A;ENST00000280904:exon8:c.776-1G>A)	.	.	0.999974090184857	0.936
18	28666707	T	A	18	31086744	y	y	splicing	DSC2(NM_024422:exon8:c.776-2A>T;NM_004949:exon8:c.776-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.776-2A>T;ENST00000280904:exon8:c.776-2A>T)	.	.	0.99994568797423	0.93
18	28666707	T	C	18	31086744	y	y	splicing	DSC2(NM_024422:exon8:c.776-2A>G;NM_004949:exon8:c.776-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.776-2A>G;ENST00000280904:exon8:c.776-2A>G)	.	.	0.99994568797423	0.94
18	28666707	T	G	18	31086744	y	y	splicing	DSC2(NM_024422:exon8:c.776-2A>C;NM_004949:exon8:c.776-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon8:c.776-2A>C;ENST00000280904:exon8:c.776-2A>C)	.	.	0.99994568797423	0.94
18	28666708	A	C	18	31086745	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.988350174687096	0.584
18	28666708	A	G	18	31086745	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.87560819916479E-5	0.024
18	28666708	A	T	18	31086745	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.202275893718221	0.284
18	28666709	G	A	18	31086746	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.70159218625168E-5	0.0
18	28666709	G	C	18	31086746	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.83695898598562E-5	0.004
18	28666709	G	T	18	31086746	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.70159218625168E-5	0.0
18	28666710	A	C	18	31086747	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00176644623739504	0.158
18	28666710	A	G	18	31086747	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.0006497883005E-5	0.004
18	28666710	A	T	18	31086747	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.30334208981601E-4	0.092
18	28666711	G	A	18	31086748	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.11892150070521E-5	0.0
18	28666711	G	C	18	31086748	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.13645382231016E-4	0.052
18	28666711	G	T	18	31086748	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.9643799745924E-4	0.044
18	28666712	A	C	18	31086749	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00108063398121269	0.042
18	28666712	A	G	18	31086749	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.65031786450155E-5	0.0
18	28666712	A	T	18	31086749	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.3324514305747E-4	0.048
18	28666713	A	C	18	31086750	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.59941187495636E-4	0.012
18	28666713	A	G	18	31086750	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.26434314159989E-5	0.002
18	28666713	A	T	18	31086750	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.96774790919032E-4	0.034
18	28666714	G	A	18	31086751	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.78397198797418E-5	0.002
18	28666714	G	C	18	31086751	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.003235589848877	0.172
18	28666714	G	T	18	31086751	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00294625201908099	0.17
18	28666715	A	C	18	31086752	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.180333285187477	0.4
18	28666715	A	G	18	31086752	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0107325084920457	0.186
18	28666715	A	T	18	31086752	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.537292220006937	0.43
18	28666716	A	C	18	31086753	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00140829149274308	0.112
18	28666716	A	G	18	31086753	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.28600921773727E-4	0.066
18	28666716	A	T	18	31086753	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00562927346597865	0.232
18	28666717	A	C	18	31086754	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0012484033459027	0.078
18	28666717	A	G	18	31086754	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.97988249175984E-4	0.024
18	28666717	A	T	18	31086754	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00392097514851563	0.126
18	28667624	G	A	18	31087661	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.74910185254821E-5	0.0
18	28667624	G	C	18	31087661	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.14720235371151E-5	0.0
18	28667624	G	T	18	31087661	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.3168795677224E-5	0.0
18	28667625	T	A	18	31087662	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.91690287536333E-4	0.0
18	28667625	T	C	18	31087662	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.585416616557E-5	0.0
18	28667625	T	G	18	31087662	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.585416616557E-5	0.0
18	28667626	A	C	18	31087663	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00574731653855439	0.272
18	28667626	A	G	18	31087663	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0252602780208954	0.222
18	28667626	A	T	18	31087663	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.365202060847671	0.424
18	28667627	C	A	18	31087664	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999957370463317	0.966
18	28667627	C	G	18	31087664	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999951843797052	0.958
18	28667627	C	T	18	31087664	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99996132236355	0.954
18	28667628	T	A	18	31087665	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.986648100618619	0.798
18	28667628	T	C	18	31087665	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.96595777978454	0.728
18	28667628	T	G	18	31087665	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.972993168962441	0.698
18	28667629	C	A	18	31087666	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.94754614889723	0.53
18	28667629	C	G	18	31087666	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.93834301614193	0.588
18	28667629	C	T	18	31087666	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.1132010393782E-5	0.046
18	28667630	A	C	18	31087667	y	y	splicing	DSC2(NM_024422:exon7:c.775+2T>G;NM_004949:exon7:c.775+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.775+2T>G;ENST00000280904:exon7:c.775+2T>G)	.	.	0.999989917668626	0.926
18	28667630	A	G	18	31087667	y	y	splicing	DSC2(NM_024422:exon7:c.775+2T>C;NM_004949:exon7:c.775+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.775+2T>C;ENST00000280904:exon7:c.775+2T>C)	.	.	0.999939711763648	0.846
18	28667630	A	T	18	31087667	y	y	splicing	DSC2(NM_024422:exon7:c.775+2T>A;NM_004949:exon7:c.775+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.775+2T>A;ENST00000280904:exon7:c.775+2T>A)	.	.	0.999989917668626	0.92
18	28667631	C	A	18	31087668	y	y	splicing	DSC2(NM_024422:exon7:c.775+1G>T;NM_004949:exon7:c.775+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.775+1G>T;ENST00000280904:exon7:c.775+1G>T)	.	.	0.999981760802075	0.944
18	28667631	C	G	18	31087668	y	y	splicing	DSC2(NM_024422:exon7:c.775+1G>C;NM_004949:exon7:c.775+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.775+1G>C;ENST00000280904:exon7:c.775+1G>C)	.	.	0.999981760802075	0.944
18	28667631	C	T	18	31087668	y	y	splicing	DSC2(NM_024422:exon7:c.775+1G>A;NM_004949:exon7:c.775+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.775+1G>A;ENST00000280904:exon7:c.775+1G>A)	.	.	0.999981760802075	0.942
18	28667632	C	A	18	31087669	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.G775T:p.G259C;DSC2:NM_004949:exon6:c.G775T:p.G259C;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.G775T:p.G259C;ENSG00000134755:ENST00000251081:exon6:c.G775T:p.G259C;	0.999977073753059	0.988
18	28667632	C	G	18	31087669	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.G775C:p.G259R;DSC2:NM_004949:exon6:c.G775C:p.G259R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.G775C:p.G259R;ENSG00000134755:ENST00000251081:exon6:c.G775C:p.G259R;	0.99998025599163	0.956
18	28667632	C	T	18	31087669	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.G775A:p.G259S;DSC2:NM_004949:exon6:c.G775A:p.G259S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.G775A:p.G259S;ENSG00000134755:ENST00000251081:exon6:c.G775A:p.G259S;	0.999966599974198	0.984
18	28667633	C	A	18	31087670	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon6:c.G774T:p.V258V;DSC2:NM_004949:exon6:c.G774T:p.V258V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.G774T:p.V258V;ENSG00000134755:ENST00000251081:exon6:c.G774T:p.V258V;	5.90663429620586E-5	0.0
18	28667633	C	G	18	31087670	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon6:c.G774C:p.V258V;DSC2:NM_004949:exon6:c.G774C:p.V258V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.G774C:p.V258V;ENSG00000134755:ENST00000251081:exon6:c.G774C:p.V258V;	2.21185573750327E-5	0.0
18	28667633	C	T	18	31087670	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon6:c.G774A:p.V258V;DSC2:NM_004949:exon6:c.G774A:p.V258V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.G774A:p.V258V;ENSG00000134755:ENST00000251081:exon6:c.G774A:p.V258V;	4.02635480875368E-5	0.026
18	28667634	A	C	18	31087671	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.T773G:p.V258G;DSC2:NM_004949:exon6:c.T773G:p.V258G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.T773G:p.V258G;ENSG00000134755:ENST00000251081:exon6:c.T773G:p.V258G;	7.03198659520487E-4	0.048
18	28667634	A	G	18	31087671	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.T773C:p.V258A;DSC2:NM_004949:exon6:c.T773C:p.V258A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.T773C:p.V258A;ENSG00000134755:ENST00000251081:exon6:c.T773C:p.V258A;	6.27513230147865E-5	0.0
18	28667634	A	T	18	31087671	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.T773A:p.V258E;DSC2:NM_004949:exon6:c.T773A:p.V258E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.T773A:p.V258E;ENSG00000134755:ENST00000251081:exon6:c.T773A:p.V258E;	1.97040381691059E-4	0.0
18	28667775	A	C	18	31087812	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.T632G:p.I211R;DSC2:NM_004949:exon6:c.T632G:p.I211R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.T632G:p.I211R;ENSG00000134755:ENST00000251081:exon6:c.T632G:p.I211R;	0.0126493116495202	0.094
18	28667775	A	G	18	31087812	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.T632C:p.I211T;DSC2:NM_004949:exon6:c.T632C:p.I211T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.T632C:p.I211T;ENSG00000134755:ENST00000251081:exon6:c.T632C:p.I211T;	7.56978006242084E-4	0.034
18	28667775	A	T	18	31087812	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.T632A:p.I211K;DSC2:NM_004949:exon6:c.T632A:p.I211K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.T632A:p.I211K;ENSG00000134755:ENST00000251081:exon6:c.T632A:p.I211K;	0.00281277577081165	0.032
18	28667776	T	A	18	31087813	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.A631T:p.I211L;DSC2:NM_004949:exon6:c.A631T:p.I211L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.A631T:p.I211L;ENSG00000134755:ENST00000251081:exon6:c.A631T:p.I211L;	1.15857162050688E-4	0.052
18	28667776	T	C	18	31087813	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.A631G:p.I211V;DSC2:NM_004949:exon6:c.A631G:p.I211V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.A631G:p.I211V;ENSG00000134755:ENST00000251081:exon6:c.A631G:p.I211V;	1.27733868272046E-5	0.0
18	28667776	T	G	18	31087813	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon6:c.A631C:p.I211L;DSC2:NM_004949:exon6:c.A631C:p.I211L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon6:c.A631C:p.I211L;ENSG00000134755:ENST00000251081:exon6:c.A631C:p.I211L;	1.12836311886482E-4	0.032
18	28667777	C	A	18	31087814	y	y	splicing	DSC2(NM_024422:exon7:c.631-1G>T;NM_004949:exon7:c.631-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.631-1G>T;ENST00000280904:exon7:c.631-1G>T)	.	.	0.999958003653399	0.812
18	28667777	C	G	18	31087814	y	y	splicing	DSC2(NM_024422:exon7:c.631-1G>C;NM_004949:exon7:c.631-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.631-1G>C;ENST00000280904:exon7:c.631-1G>C)	.	.	0.999977614472875	0.794
18	28667777	C	T	18	31087814	y	y	splicing	DSC2(NM_024422:exon7:c.631-1G>A;NM_004949:exon7:c.631-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.631-1G>A;ENST00000280904:exon7:c.631-1G>A)	.	.	0.999958003653399	0.82
18	28667778	T	A	18	31087815	y	y	splicing	DSC2(NM_024422:exon7:c.631-2A>T;NM_004949:exon7:c.631-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.631-2A>T;ENST00000280904:exon7:c.631-2A>T)	.	.	0.999962958601995	0.794
18	28667778	T	C	18	31087815	y	y	splicing	DSC2(NM_024422:exon7:c.631-2A>G;NM_004949:exon7:c.631-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.631-2A>G;ENST00000280904:exon7:c.631-2A>G)	.	.	0.999980255680118	0.764
18	28667778	T	G	18	31087815	y	y	splicing	DSC2(NM_024422:exon7:c.631-2A>C;NM_004949:exon7:c.631-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon7:c.631-2A>C;ENST00000280904:exon7:c.631-2A>C)	.	.	0.999980255680118	0.774
18	28667779	G	A	18	31087816	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.39137795812599E-4	0.014
18	28667779	G	C	18	31087816	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999044979504175	0.77
18	28667779	G	T	18	31087816	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.528170473480022	0.568
18	28667780	T	A	18	31087817	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.36359176410648E-5	0.0
18	28667780	T	C	18	31087817	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.90802056384522E-5	0.004
18	28667780	T	G	18	31087817	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.59333504026243E-6	0.002
18	28667781	G	A	18	31087818	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.79929515052988E-6	0.0
18	28667781	G	C	18	31087818	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.84774093014987E-5	0.016
18	28667781	G	T	18	31087818	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.91999251105439E-5	0.012
18	28667782	A	C	18	31087819	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.05022429363319E-4	0.198
18	28667782	A	G	18	31087819	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.84560009143497E-5	0.012
18	28667782	A	T	18	31087819	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.81852419900495E-4	0.096
18	28667783	A	C	18	31087820	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.90746348566672E-4	0.122
18	28667783	A	G	18	31087820	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.16609045241781E-5	0.02
18	28667783	A	T	18	31087820	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.15321439706236E-4	0.116
18	28667784	G	A	18	31087821	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.96129626974012E-5	0.02
18	28667784	G	C	18	31087821	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.47763667535463E-5	0.022
18	28667784	G	T	18	31087821	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.34521005580414E-4	0.186
18	28667785	A	C	18	31087822	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.25991361948621E-4	0.136
18	28667785	A	G	18	31087822	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.65353084001893E-4	0.002
18	28667785	A	T	18	31087822	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.34830699150988E-4	0.164
18	28667786	G	A	18	31087823	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.47788010727065E-5	0.0
18	28667786	G	C	18	31087823	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.3818618756864E-5	0.028
18	28667786	G	T	18	31087823	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.41722387571234E-4	0.038
18	28667787	A	C	18	31087824	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.48272966352678E-4	0.156
18	28667787	A	G	18	31087824	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.02801485544437E-4	0.074
18	28667787	A	T	18	31087824	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.7378101375172E-4	0.16
18	28667788	G	A	18	31087825	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.69818239339698E-5	0.0
18	28667788	G	C	18	31087825	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.985843201862772	0.886
18	28667788	G	T	18	31087825	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.65727541235239E-4	0.032
18	28669394	G	A	18	31089431	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.8045611791276E-4	0.002
18	28669394	G	C	18	31089431	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.80096427729456E-4	0.008
18	28669394	G	T	18	31089431	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.81964794354227E-4	0.002
18	28669395	A	C	18	31089432	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.61823553050562E-5	0.004
18	28669395	A	G	18	31089432	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.61823553050562E-5	0.002
18	28669395	A	T	18	31089432	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.61823553050562E-5	0.008
18	28669396	C	A	18	31089433	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.53548127577521E-5	0.0
18	28669396	C	G	18	31089433	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.01739405945382E-4	0.004
18	28669396	C	T	18	31089433	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.1275030520828E-4	0.004
18	28669397	T	A	18	31089434	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.43383069421471E-4	0.08
18	28669397	T	C	18	31089434	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.38410639632455E-5	0.014
18	28669397	T	G	18	31089434	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.52163392024827E-4	0.012
18	28669398	T	A	18	31089435	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0425606460646774	0.42
18	28669398	T	C	18	31089435	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.955273770447411	0.69
18	28669398	T	G	18	31089435	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0171697437651039	0.346
18	28669399	T	A	18	31089436	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999726055291187	0.922
18	28669399	T	C	18	31089436	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.989103436080505	0.672
18	28669399	T	G	18	31089436	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999666738484562	0.934
18	28669400	A	C	18	31089437	y	y	splicing	DSC2(NM_024422:exon6:c.630+2T>G;NM_004949:exon6:c.630+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.630+2T>G;ENST00000280904:exon6:c.630+2T>G)	.	.	0.999957711392063	0.956
18	28669400	A	G	18	31089437	y	y	splicing	DSC2(NM_024422:exon6:c.630+2T>C;NM_004949:exon6:c.630+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.630+2T>C;ENST00000280904:exon6:c.630+2T>C)	.	.	0.986334653975133	0.708
18	28669400	A	T	18	31089437	y	y	splicing	DSC2(NM_024422:exon6:c.630+2T>A;NM_004949:exon6:c.630+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.630+2T>A;ENST00000280904:exon6:c.630+2T>A)	.	.	0.999957711392063	0.946
18	28669401	C	A	18	31089438	y	y	splicing	DSC2(NM_024422:exon6:c.630+1G>T;NM_004949:exon6:c.630+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.630+1G>T;ENST00000280904:exon6:c.630+1G>T)	.	.	0.999964993890792	0.948
18	28669401	C	G	18	31089438	y	y	splicing	DSC2(NM_024422:exon6:c.630+1G>C;NM_004949:exon6:c.630+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.630+1G>C;ENST00000280904:exon6:c.630+1G>C)	.	.	0.999965316651096	0.952
18	28669401	C	T	18	31089438	y	y	splicing	DSC2(NM_024422:exon6:c.630+1G>A;NM_004949:exon6:c.630+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.630+1G>A;ENST00000280904:exon6:c.630+1G>A)	.	.	0.999964993890792	0.948
18	28669402	C	A	18	31089439	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.G630T:p.E210D;DSC2:NM_004949:exon5:c.G630T:p.E210D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.G630T:p.E210D;ENSG00000134755:ENST00000251081:exon5:c.G630T:p.E210D;	0.999976216586574	0.93
18	28669402	C	G	18	31089439	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.G630C:p.E210D;DSC2:NM_004949:exon5:c.G630C:p.E210D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.G630C:p.E210D;ENSG00000134755:ENST00000251081:exon5:c.G630C:p.E210D;	0.99998831487944	0.932
18	28669402	C	T	18	31089439	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon5:c.G630A:p.E210E;DSC2:NM_004949:exon5:c.G630A:p.E210E;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.G630A:p.E210E;ENSG00000134755:ENST00000251081:exon5:c.G630A:p.E210E;	0.999968934557378	0.998
18	28669403	T	A	18	31089440	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.A629T:p.E210V;DSC2:NM_004949:exon5:c.A629T:p.E210V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.A629T:p.E210V;ENSG00000134755:ENST00000251081:exon5:c.A629T:p.E210V;	0.983662407742337	0.738
18	28669403	T	C	18	31089440	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.A629G:p.E210G;DSC2:NM_004949:exon5:c.A629G:p.E210G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.A629G:p.E210G;ENSG00000134755:ENST00000251081:exon5:c.A629G:p.E210G;	0.99211047612352	0.766
18	28669403	T	G	18	31089440	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.A629C:p.E210A;DSC2:NM_004949:exon5:c.A629C:p.E210A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.A629C:p.E210A;ENSG00000134755:ENST00000251081:exon5:c.A629C:p.E210A;	0.743264182351386	0.616
18	28669404	C	A	18	31089441	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon5:c.G628T:p.E210X;DSC2:NM_004949:exon5:c.G628T:p.E210X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon5:c.G628T:p.E210X;ENSG00000134755:ENST00000251081:exon5:c.G628T:p.E210X;	0.00133186624032964	0.164
18	28669404	C	G	18	31089441	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.G628C:p.E210Q;DSC2:NM_004949:exon5:c.G628C:p.E210Q;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.G628C:p.E210Q;ENSG00000134755:ENST00000251081:exon5:c.G628C:p.E210Q;	1.19466933516587E-5	0.002
18	28669404	C	T	18	31089441	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.G628A:p.E210K;DSC2:NM_004949:exon5:c.G628A:p.E210K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.G628A:p.E210K;ENSG00000134755:ENST00000251081:exon5:c.G628A:p.E210K;	9.37200613050491E-6	0.0
18	28669556	A	C	18	31089593	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.T476G:p.V159G;DSC2:NM_004949:exon5:c.T476G:p.V159G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.T476G:p.V159G;ENSG00000134755:ENST00000251081:exon5:c.T476G:p.V159G;	0.874365958523939	0.612
18	28669556	A	G	18	31089593	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.T476C:p.V159A;DSC2:NM_004949:exon5:c.T476C:p.V159A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.T476C:p.V159A;ENSG00000134755:ENST00000251081:exon5:c.T476C:p.V159A;	0.891286642565376	0.622
18	28669556	A	T	18	31089593	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.T476A:p.V159D;DSC2:NM_004949:exon5:c.T476A:p.V159D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.T476A:p.V159D;ENSG00000134755:ENST00000251081:exon5:c.T476A:p.V159D;	0.934652622071726	0.548
18	28669557	C	A	18	31089594	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.G475T:p.V159F;DSC2:NM_004949:exon5:c.G475T:p.V159F;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.G475T:p.V159F;ENSG00000134755:ENST00000251081:exon5:c.G475T:p.V159F;	0.994604565952906	0.612
18	28669557	C	G	18	31089594	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.G475C:p.V159L;DSC2:NM_004949:exon5:c.G475C:p.V159L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.G475C:p.V159L;ENSG00000134755:ENST00000251081:exon5:c.G475C:p.V159L;	0.438662666097475	0.526
18	28669557	C	T	18	31089594	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon5:c.G475A:p.V159I;DSC2:NM_004949:exon5:c.G475A:p.V159I;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon5:c.G475A:p.V159I;ENSG00000134755:ENST00000251081:exon5:c.G475A:p.V159I;	0.00228270053588884	0.18
18	28669558	C	A	18	31089595	y	y	splicing	DSC2(NM_024422:exon6:c.475-1G>T;NM_004949:exon6:c.475-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.475-1G>T;ENST00000280904:exon6:c.475-1G>T)	.	.	0.999990361384395	0.938
18	28669558	C	G	18	31089595	y	y	splicing	DSC2(NM_024422:exon6:c.475-1G>C;NM_004949:exon6:c.475-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.475-1G>C;ENST00000280904:exon6:c.475-1G>C)	.	.	0.999990361384395	0.938
18	28669558	C	T	18	31089595	y	y	splicing	DSC2(NM_024422:exon6:c.475-1G>A;NM_004949:exon6:c.475-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.475-1G>A;ENST00000280904:exon6:c.475-1G>A)	.	.	0.999990361384395	0.938
18	28669559	T	A	18	31089596	y	y	splicing	DSC2(NM_024422:exon6:c.475-2A>T;NM_004949:exon6:c.475-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.475-2A>T;ENST00000280904:exon6:c.475-2A>T)	.	.	0.999988247793601	0.93
18	28669559	T	C	18	31089596	y	y	splicing	DSC2(NM_024422:exon6:c.475-2A>G;NM_004949:exon6:c.475-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.475-2A>G;ENST00000280904:exon6:c.475-2A>G)	.	.	0.999988247793601	0.93
18	28669559	T	G	18	31089596	y	y	splicing	DSC2(NM_024422:exon6:c.475-2A>C;NM_004949:exon6:c.475-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon6:c.475-2A>C;ENST00000280904:exon6:c.475-2A>C)	.	.	0.999988247793601	0.93
18	28669560	A	C	18	31089597	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.993119720025821	0.676
18	28669560	A	G	18	31089597	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.06029343458295E-5	0.01
18	28669560	A	T	18	31089597	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0240525415455503	0.32
18	28669561	G	A	18	31089598	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.70096852560533E-5	0.0
18	28669561	G	C	18	31089598	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.92739689592359E-5	0.0
18	28669561	G	T	18	31089598	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.69608130955164E-5	0.0
18	28669562	A	C	18	31089599	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.968808027250881	0.584
18	28669562	A	G	18	31089599	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0423313155774882	0.278
18	28669562	A	T	18	31089599	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.946292260690524	0.596
18	28669563	A	C	18	31089600	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.215297047961083	0.42
18	28669563	A	G	18	31089600	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.00766917100733E-4	0.006
18	28669563	A	T	18	31089600	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0361833961099027	0.406
18	28669564	A	C	18	31089601	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00715081587563554	0.03
18	28669564	A	G	18	31089601	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.82991452758535E-5	0.008
18	28669564	A	T	18	31089601	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00392118483359248	0.032
18	28669565	G	A	18	31089602	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.56548034602859E-5	0.006
18	28669565	G	C	18	31089602	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999295741610367	0.944
18	28669565	G	T	18	31089602	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.50114927427257E-4	0.062
18	28669566	T	A	18	31089603	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.02704691451924E-5	0.0
18	28669566	T	C	18	31089603	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.362181700124E-5	0.0
18	28669566	T	G	18	31089603	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.38264277802222E-5	0.0
18	28669567	A	C	18	31089604	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.380286521444399	0.574
18	28669567	A	G	18	31089604	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00425466763703617	0.124
18	28669567	A	T	18	31089604	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.354555470321934	0.528
18	28669568	G	A	18	31089605	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.64754609566813E-6	0.0
18	28669568	G	C	18	31089605	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.73014227883322E-4	0.014
18	28669568	G	T	18	31089605	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.46444115986929E-4	0.022
18	28669569	A	C	18	31089606	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99955018530304	0.978
18	28669569	A	G	18	31089606	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.71433625653474E-4	0.0
18	28669569	A	T	18	31089606	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.100248481320977	0.31
18	28670983	A	C	18	31091020	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.55984662119299E-5	0.02
18	28670983	A	G	18	31091020	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.55232293977891E-4	0.01
18	28670983	A	T	18	31091020	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.06204400305209E-4	0.016
18	28670984	A	C	18	31091021	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0030892378134683	0.012
18	28670984	A	G	18	31091021	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00124998281293297	0.02
18	28670984	A	T	18	31091021	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00168236075584478	0.01
18	28670985	C	A	18	31091022	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.5788156084477E-4	0.072
18	28670985	C	G	18	31091022	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.95449544949807E-5	0.008
18	28670985	C	T	18	31091022	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.02135641934484E-4	0.016
18	28670986	G	A	18	31091023	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.22993590197047E-5	0.0
18	28670986	G	C	18	31091023	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.10651792858848E-5	0.034
18	28670986	G	T	18	31091023	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.45242578747084E-5	0.008
18	28670987	G	A	18	31091024	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00135067595438804	0.034
18	28670987	G	C	18	31091024	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.4495185618721E-4	0.032
18	28670987	G	T	18	31091024	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.09583030899E-4	0.086
18	28670988	T	A	18	31091025	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999958587022177	0.978
18	28670988	T	C	18	31091025	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.994385016049035	0.886
18	28670988	T	G	18	31091025	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99990610087695	0.912
18	28670989	A	C	18	31091026	y	y	splicing	DSC2(NM_024422:exon5:c.474+2T>G;NM_004949:exon5:c.474+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.474+2T>G;ENST00000280904:exon5:c.474+2T>G)	.	.	0.999988247793601	0.928
18	28670989	A	G	18	31091026	y	y	splicing	DSC2(NM_024422:exon5:c.474+2T>C;NM_004949:exon5:c.474+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.474+2T>C;ENST00000280904:exon5:c.474+2T>C)	.	.	0.98918007292081	0.642
18	28670989	A	T	18	31091026	y	y	splicing	DSC2(NM_024422:exon5:c.474+2T>A;NM_004949:exon5:c.474+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.474+2T>A;ENST00000280904:exon5:c.474+2T>A)	.	.	0.999988247793601	0.928
18	28670990	C	A	18	31091027	y	y	splicing	DSC2(NM_024422:exon5:c.474+1G>T;NM_004949:exon5:c.474+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.474+1G>T;ENST00000280904:exon5:c.474+1G>T)	.	.	0.999990361384395	0.938
18	28670990	C	G	18	31091027	y	y	splicing	DSC2(NM_024422:exon5:c.474+1G>C;NM_004949:exon5:c.474+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.474+1G>C;ENST00000280904:exon5:c.474+1G>C)	.	.	0.999990361384395	0.936
18	28670990	C	T	18	31091027	y	y	splicing	DSC2(NM_024422:exon5:c.474+1G>A;NM_004949:exon5:c.474+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.474+1G>A;ENST00000280904:exon5:c.474+1G>A)	.	.	0.999990361384395	0.938
18	28670991	C	A	18	31091028	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.G474T:p.Q158H;DSC2:NM_004949:exon4:c.G474T:p.Q158H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.G474T:p.Q158H;ENSG00000134755:ENST00000251081:exon4:c.G474T:p.Q158H;	0.999991398258135	1.0
18	28670991	C	G	18	31091028	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.G474C:p.Q158H;DSC2:NM_004949:exon4:c.G474C:p.Q158H;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.G474C:p.Q158H;ENSG00000134755:ENST00000251081:exon4:c.G474C:p.Q158H;	0.999997800940643	1.0
18	28670991	C	T	18	31091028	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon4:c.G474A:p.Q158Q;DSC2:NM_004949:exon4:c.G474A:p.Q158Q;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.G474A:p.Q158Q;ENSG00000134755:ENST00000251081:exon4:c.G474A:p.Q158Q;	0.999963107616751	0.998
18	28670992	T	A	18	31091029	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.A473T:p.Q158L;DSC2:NM_004949:exon4:c.A473T:p.Q158L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.A473T:p.Q158L;ENSG00000134755:ENST00000251081:exon4:c.A473T:p.Q158L;	0.999948570518861	1.0
18	28670992	T	C	18	31091029	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.A473G:p.Q158R;DSC2:NM_004949:exon4:c.A473G:p.Q158R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.A473G:p.Q158R;ENSG00000134755:ENST00000251081:exon4:c.A473G:p.Q158R;	0.99994662349994	0.992
18	28670992	T	G	18	31091029	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.A473C:p.Q158P;DSC2:NM_004949:exon4:c.A473C:p.Q158P;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.A473C:p.Q158P;ENSG00000134755:ENST00000251081:exon4:c.A473C:p.Q158P;	0.999938239726039	0.976
18	28670993	G	A	18	31091030	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon4:c.C472T:p.Q158X;DSC2:NM_004949:exon4:c.C472T:p.Q158X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon4:c.C472T:p.Q158X;ENSG00000134755:ENST00000251081:exon4:c.C472T:p.Q158X;	0.999927550524182	0.984
18	28670993	G	C	18	31091030	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.C472G:p.Q158E;DSC2:NM_004949:exon4:c.C472G:p.Q158E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.C472G:p.Q158E;ENSG00000134755:ENST00000251081:exon4:c.C472G:p.Q158E;	0.967865203687186	0.678
18	28670993	G	T	18	31091030	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.C472A:p.Q158K;DSC2:NM_004949:exon4:c.C472A:p.Q158K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.C472A:p.Q158K;ENSG00000134755:ENST00000251081:exon4:c.C472A:p.Q158K;	0.93446717286208	0.746
18	28671109	A	C	18	31091146	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.T356G:p.V119G;DSC2:NM_004949:exon4:c.T356G:p.V119G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.T356G:p.V119G;ENSG00000134755:ENST00000251081:exon4:c.T356G:p.V119G;	8.81719229968373E-4	.
18	28671109	A	G	18	31091146	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.T356C:p.V119A;DSC2:NM_004949:exon4:c.T356C:p.V119A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.T356C:p.V119A;ENSG00000134755:ENST00000251081:exon4:c.T356C:p.V119A;	1.08600210015906E-4	.
18	28671109	A	T	18	31091146	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.T356A:p.V119D;DSC2:NM_004949:exon4:c.T356A:p.V119D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.T356A:p.V119D;ENSG00000134755:ENST00000251081:exon4:c.T356A:p.V119D;	0.00308751710565114	.
18	28671110	C	A	18	31091147	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.G355T:p.V119F;DSC2:NM_004949:exon4:c.G355T:p.V119F;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.G355T:p.V119F;ENSG00000134755:ENST00000251081:exon4:c.G355T:p.V119F;	0.999805960928855	.
18	28671110	C	G	18	31091147	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.G355C:p.V119L;DSC2:NM_004949:exon4:c.G355C:p.V119L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.G355C:p.V119L;ENSG00000134755:ENST00000251081:exon4:c.G355C:p.V119L;	0.993771582919846	.
18	28671110	C	T	18	31091147	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon4:c.G355A:p.V119I;DSC2:NM_004949:exon4:c.G355A:p.V119I;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon4:c.G355A:p.V119I;ENSG00000134755:ENST00000251081:exon4:c.G355A:p.V119I;	0.968242706194832	.
18	28671111	C	A	18	31091148	y	y	splicing	DSC2(NM_024422:exon5:c.355-1G>T;NM_004949:exon5:c.355-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.355-1G>T;ENST00000280904:exon5:c.355-1G>T)	.	.	0.999702876967395	.
18	28671111	C	G	18	31091148	y	y	splicing	DSC2(NM_024422:exon5:c.355-1G>C;NM_004949:exon5:c.355-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.355-1G>C;ENST00000280904:exon5:c.355-1G>C)	.	.	0.999702876967395	.
18	28671111	C	T	18	31091148	y	y	splicing	DSC2(NM_024422:exon5:c.355-1G>A;NM_004949:exon5:c.355-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.355-1G>A;ENST00000280904:exon5:c.355-1G>A)	.	.	0.999702876967395	.
18	28671112	T	A	18	31091149	y	y	splicing	DSC2(NM_024422:exon5:c.355-2A>T;NM_004949:exon5:c.355-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.355-2A>T;ENST00000280904:exon5:c.355-2A>T)	.	.	0.9998780249771	.
18	28671112	T	C	18	31091149	y	y	splicing	DSC2(NM_024422:exon5:c.355-2A>G;NM_004949:exon5:c.355-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.355-2A>G;ENST00000280904:exon5:c.355-2A>G)	.	.	0.9998780249771	.
18	28671112	T	G	18	31091149	y	y	splicing	DSC2(NM_024422:exon5:c.355-2A>C;NM_004949:exon5:c.355-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon5:c.355-2A>C;ENST00000280904:exon5:c.355-2A>C)	.	.	0.9998780249771	.
18	28671113	C	A	18	31091150	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.77981845074982E-5	.
18	28671113	C	G	18	31091150	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.39520194429561E-4	.
18	28671113	C	T	18	31091150	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.68214720989262E-5	.
18	28671114	A	C	18	31091151	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.16407012778345E-5	.
18	28671114	A	G	18	31091151	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.06764441995182E-5	.
18	28671114	A	T	18	31091151	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.1442499959958E-5	.
18	28671115	A	C	18	31091152	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999629484082186	.
18	28671115	A	G	18	31091152	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.142509486296902	.
18	28671115	A	T	18	31091152	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.987451041037001	.
18	28671116	T	A	18	31091153	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.647160179545E-4	.
18	28671116	T	C	18	31091153	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.773722636706602	.
18	28671116	T	G	18	31091153	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.68548744940888E-4	.
18	28671117	T	A	18	31091154	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00127452032745776	.
18	28671117	T	C	18	31091154	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0240717328301812	.
18	28671117	T	G	18	31091154	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00137067746852818	.
18	28671118	C	A	18	31091155	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.00027415283162E-5	.
18	28671118	C	G	18	31091155	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.61562475483319E-5	.
18	28671118	C	T	18	31091155	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.98065105751924E-5	.
18	28671119	A	C	18	31091156	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.991042617675862	.
18	28671119	A	G	18	31091156	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00114069809872445	.
18	28671119	A	T	18	31091156	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.989910153673588	.
18	28671120	T	A	18	31091157	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.33054793398968E-5	.
18	28671120	T	C	18	31091157	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.64859914642454E-5	.
18	28671120	T	G	18	31091157	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.43852606890989E-5	.
18	28671121	A	C	18	31091158	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.91423668506882	.
18	28671121	A	G	18	31091158	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.622254899094087	.
18	28671121	A	T	18	31091158	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.92345221711836	.
18	28671122	A	C	18	31091159	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0681570505475483	.
18	28671122	A	G	18	31091159	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00153875899029135	.
18	28671122	A	T	18	31091159	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.671230423076116	.
18	28672056	T	A	18	31092093	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.72921857239455E-4	0.012
18	28672056	T	C	18	31092093	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.49381745253425E-4	0.026
18	28672056	T	G	18	31092093	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.85652746109136E-4	0.014
18	28672057	T	A	18	31092094	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.52351840512538E-4	0.02
18	28672057	T	C	18	31092094	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.49158124622787E-4	0.02
18	28672057	T	G	18	31092094	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.49669853581851E-4	0.02
18	28672058	G	A	18	31092095	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.21274755251534E-5	0.012
18	28672058	G	C	18	31092095	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.80771994634044E-5	0.008
18	28672058	G	T	18	31092095	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.47649706925702E-5	0.014
18	28672059	T	A	18	31092096	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.15742626244674E-4	0.168
18	28672059	T	C	18	31092096	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.64139962343087E-4	0.072
18	28672059	T	G	18	31092096	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.78851678267889E-4	0.028
18	28672060	A	C	18	31092097	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.71319457664609E-5	0.028
18	28672060	A	G	18	31092097	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00114516029713473	0.094
18	28672060	A	T	18	31092097	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.2675320718768E-4	0.09
18	28672061	T	A	18	31092098	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999946402365865	0.97
18	28672061	T	C	18	31092098	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999818801663123	0.964
18	28672061	T	G	18	31092098	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999958665302312	0.976
18	28672062	A	C	18	31092099	y	y	splicing	DSC2(NM_024422:exon4:c.354+2T>G;NM_004949:exon4:c.354+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.354+2T>G;ENST00000280904:exon4:c.354+2T>G)	.	.	0.999992446697775	0.926
18	28672062	A	G	18	31092099	y	y	splicing	DSC2(NM_024422:exon4:c.354+2T>C;NM_004949:exon4:c.354+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.354+2T>C;ENST00000280904:exon4:c.354+2T>C)	.	.	0.989838600809155	0.598
18	28672062	A	T	18	31092099	y	y	splicing	DSC2(NM_024422:exon4:c.354+2T>A;NM_004949:exon4:c.354+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.354+2T>A;ENST00000280904:exon4:c.354+2T>A)	.	.	0.999992446697775	0.926
18	28672063	C	A	18	31092100	y	y	splicing	DSC2(NM_024422:exon4:c.354+1G>T;NM_004949:exon4:c.354+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.354+1G>T;ENST00000280904:exon4:c.354+1G>T)	.	.	0.999988247793601	0.906
18	28672063	C	G	18	31092100	y	y	splicing	DSC2(NM_024422:exon4:c.354+1G>C;NM_004949:exon4:c.354+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.354+1G>C;ENST00000280904:exon4:c.354+1G>C)	.	.	0.999988247793601	0.918
18	28672063	C	T	18	31092100	y	y	splicing	DSC2(NM_024422:exon4:c.354+1G>A;NM_004949:exon4:c.354+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.354+1G>A;ENST00000280904:exon4:c.354+1G>A)	.	.	0.999988247793601	0.92
18	28672064	C	A	18	31092101	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.G354T:p.K118N;DSC2:NM_004949:exon3:c.G354T:p.K118N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.G354T:p.K118N;ENSG00000134755:ENST00000251081:exon3:c.G354T:p.K118N;	0.99999345690698	0.98
18	28672064	C	G	18	31092101	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.G354C:p.K118N;DSC2:NM_004949:exon3:c.G354C:p.K118N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.G354C:p.K118N;ENSG00000134755:ENST00000251081:exon3:c.G354C:p.K118N;	0.9999979076122	0.986
18	28672064	C	T	18	31092101	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon3:c.G354A:p.K118K;DSC2:NM_004949:exon3:c.G354A:p.K118K;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.G354A:p.K118K;ENSG00000134755:ENST00000251081:exon3:c.G354A:p.K118K;	0.999984983199827	0.99
18	28672065	T	A	18	31092102	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.A353T:p.K118M;DSC2:NM_004949:exon3:c.A353T:p.K118M;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.A353T:p.K118M;ENSG00000134755:ENST00000251081:exon3:c.A353T:p.K118M;	0.999926490628215	0.994
18	28672065	T	C	18	31092102	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.A353G:p.K118R;DSC2:NM_004949:exon3:c.A353G:p.K118R;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.A353G:p.K118R;ENSG00000134755:ENST00000251081:exon3:c.A353G:p.K118R;	0.999576434479976	0.988
18	28672065	T	G	18	31092102	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.A353C:p.K118T;DSC2:NM_004949:exon3:c.A353C:p.K118T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.A353C:p.K118T;ENSG00000134755:ENST00000251081:exon3:c.A353C:p.K118T;	0.999165403699278	0.964
18	28672066	T	A	18	31092103	y	y	exonic	DSC2	stopgain SNV	DSC2:NM_024422:exon3:c.A352T:p.K118X;DSC2:NM_004949:exon3:c.A352T:p.K118X;	exonic	ENSG00000134755	stopgain SNV	ENSG00000134755:ENST00000280904:exon3:c.A352T:p.K118X;ENSG00000134755:ENST00000251081:exon3:c.A352T:p.K118X;	0.740219690423733	0.586
18	28672066	T	C	18	31092103	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.A352G:p.K118E;DSC2:NM_004949:exon3:c.A352G:p.K118E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.A352G:p.K118E;ENSG00000134755:ENST00000251081:exon3:c.A352G:p.K118E;	6.70496692374325E-4	0.054
18	28672066	T	G	18	31092103	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.A352C:p.K118Q;DSC2:NM_004949:exon3:c.A352C:p.K118Q;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.A352C:p.K118Q;ENSG00000134755:ENST00000251081:exon3:c.A352C:p.K118Q;	1.81004615098807E-4	0.01
18	28672262	A	C	18	31092299	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon3:c.T156G:p.V52V;DSC2:NM_004949:exon3:c.T156G:p.V52V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.T156G:p.V52V;ENSG00000134755:ENST00000251081:exon3:c.T156G:p.V52V;	0.00116789067156731	0.066
18	28672262	A	G	18	31092299	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon3:c.T156C:p.V52V;DSC2:NM_004949:exon3:c.T156C:p.V52V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.T156C:p.V52V;ENSG00000134755:ENST00000251081:exon3:c.T156C:p.V52V;	5.07794134385968E-4	0.062
18	28672262	A	T	18	31092299	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon3:c.T156A:p.V52V;DSC2:NM_004949:exon3:c.T156A:p.V52V;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.T156A:p.V52V;ENSG00000134755:ENST00000251081:exon3:c.T156A:p.V52V;	0.00105216542471459	0.054
18	28672263	A	C	18	31092300	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.T155G:p.V52G;DSC2:NM_004949:exon3:c.T155G:p.V52G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.T155G:p.V52G;ENSG00000134755:ENST00000251081:exon3:c.T155G:p.V52G;	0.704220188112641	0.618
18	28672263	A	G	18	31092300	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.T155C:p.V52A;DSC2:NM_004949:exon3:c.T155C:p.V52A;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.T155C:p.V52A;ENSG00000134755:ENST00000251081:exon3:c.T155C:p.V52A;	0.744759392173844	0.656
18	28672263	A	T	18	31092300	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon3:c.T155A:p.V52D;DSC2:NM_004949:exon3:c.T155A:p.V52D;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon3:c.T155A:p.V52D;ENSG00000134755:ENST00000251081:exon3:c.T155A:p.V52D;	0.607070486416034	0.682
18	28672264	C	A	18	31092301	y	y	splicing	DSC2(NM_024422:exon4:c.155-1G>T;NM_004949:exon4:c.155-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.155-1G>T;ENST00000280904:exon4:c.155-1G>T)	.	.	0.999986675681007	0.932
18	28672264	C	G	18	31092301	y	y	splicing	DSC2(NM_024422:exon4:c.155-1G>C;NM_004949:exon4:c.155-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.155-1G>C;ENST00000280904:exon4:c.155-1G>C)	.	.	0.999986675681007	0.932
18	28672264	C	T	18	31092301	y	y	splicing	DSC2(NM_024422:exon4:c.155-1G>A;NM_004949:exon4:c.155-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.155-1G>A;ENST00000280904:exon4:c.155-1G>A)	.	.	0.999986675681007	0.932
18	28672265	T	A	18	31092302	y	y	splicing	DSC2(NM_024422:exon4:c.155-2A>T;NM_004949:exon4:c.155-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.155-2A>T;ENST00000280904:exon4:c.155-2A>T)	.	.	0.999988247793601	0.926
18	28672265	T	C	18	31092302	y	y	splicing	DSC2(NM_024422:exon4:c.155-2A>G;NM_004949:exon4:c.155-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.155-2A>G;ENST00000280904:exon4:c.155-2A>G)	.	.	0.999988247793601	0.926
18	28672265	T	G	18	31092302	y	y	splicing	DSC2(NM_024422:exon4:c.155-2A>C;NM_004949:exon4:c.155-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon4:c.155-2A>C;ENST00000280904:exon4:c.155-2A>C)	.	.	0.999988247793601	0.926
18	28672266	G	A	18	31092303	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0112984398022095	0.112
18	28672266	G	C	18	31092303	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999814729031472	0.974
18	28672266	G	T	18	31092303	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.989676420187359	0.77
18	28672267	T	A	18	31092304	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.16988063369634E-4	0.024
18	28672267	T	C	18	31092304	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.52027668631318E-4	0.01
18	28672267	T	G	18	31092304	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.17683052885569E-4	0.002
18	28672268	A	C	18	31092305	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.215946155606783	0.422
18	28672268	A	G	18	31092305	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.63777541653804E-4	0.024
18	28672268	A	T	18	31092305	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.523658772310238	0.444
18	28672269	G	A	18	31092306	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.65631204167732E-5	0.006
18	28672269	G	C	18	31092306	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00166103668000615	0.202
18	28672269	G	T	18	31092306	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00117520369286584	0.166
18	28672270	A	C	18	31092307	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.496298179230802	0.464
18	28672270	A	G	18	31092307	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.26729186659313E-4	0.004
18	28672270	A	T	18	31092307	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.616028803105464	0.466
18	28672271	A	C	18	31092308	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.138150666564974	0.322
18	28672271	A	G	18	31092308	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0014257083953665	0.074
18	28672271	A	T	18	31092308	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.559492724745084	0.37
18	28672272	A	C	18	31092309	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.873880315609325	0.52
18	28672272	A	G	18	31092309	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00105433579992011	0.046
18	28672272	A	T	18	31092309	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.726678651498929	0.508
18	28672273	A	C	18	31092310	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.999969661676067	0.98
18	28672273	A	G	18	31092310	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.26146319596597E-4	0.0
18	28672273	A	T	18	31092310	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.112869099475806	0.336
18	28672274	T	A	18	31092311	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.89112000659422E-4	0.056
18	28672274	T	C	18	31092311	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.21742978208922E-5	0.008
18	28672274	T	G	18	31092311	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.89076722594579E-4	0.014
18	28672275	A	C	18	31092312	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99997240700276	0.944
18	28672275	A	G	18	31092312	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.03213915743632E-5	0.008
18	28672275	A	T	18	31092312	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0538294041933071	0.436
18	28673514	T	A	18	31093551	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.78684081159298E-5	0.002
18	28673514	T	C	18	31093551	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.73406751144135E-5	0.0
18	28673514	T	G	18	31093551	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.73406751144135E-5	0.01
18	28673515	T	A	18	31093552	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	8.82742497426626E-4	0.002
18	28673515	T	C	18	31093552	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.29103925161479E-4	0.006
18	28673515	T	G	18	31093552	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.85159348457159E-4	0.002
18	28673516	C	A	18	31093553	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.88175094687496E-6	0.0
18	28673516	C	G	18	31093553	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.83412803306686E-5	0.008
18	28673516	C	T	18	31093553	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.32122741313461E-5	0.008
18	28673517	C	A	18	31093554	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.301271832141996	0.42
18	28673517	C	G	18	31093554	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.232458042675768	0.496
18	28673517	C	T	18	31093554	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.608795725718916	0.472
18	28673518	T	A	18	31093555	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.531266737871284	0.54
18	28673518	T	C	18	31093555	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.837694085546762	0.564
18	28673518	T	G	18	31093555	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.355861215971835	0.512
18	28673519	T	A	18	31093556	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.992722924302257	0.68
18	28673519	T	C	18	31093556	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00317545818344268	0.09
18	28673519	T	G	18	31093556	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.995500375081484	0.756
18	28673520	A	C	18	31093557	y	y	splicing	DSC2(NM_024422:exon3:c.154+2T>G;NM_004949:exon3:c.154+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.154+2T>G;ENST00000280904:exon3:c.154+2T>G)	.	.	0.999964896440643	0.934
18	28673520	A	G	18	31093557	y	y	splicing	DSC2(NM_024422:exon3:c.154+2T>C;NM_004949:exon3:c.154+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.154+2T>C;ENST00000280904:exon3:c.154+2T>C)	.	.	0.977187681094609	0.614
18	28673520	A	T	18	31093557	y	y	splicing	DSC2(NM_024422:exon3:c.154+2T>A;NM_004949:exon3:c.154+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.154+2T>A;ENST00000280904:exon3:c.154+2T>A)	.	.	0.999946188727699	0.936
18	28673521	C	A	18	31093558	y	y	splicing	DSC2(NM_024422:exon3:c.154+1G>T;NM_004949:exon3:c.154+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.154+1G>T;ENST00000280904:exon3:c.154+1G>T)	.	.	0.999949962508874	0.93
18	28673521	C	G	18	31093558	y	y	splicing	DSC2(NM_024422:exon3:c.154+1G>C;NM_004949:exon3:c.154+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.154+1G>C;ENST00000280904:exon3:c.154+1G>C)	.	.	0.999949962508874	0.938
18	28673521	C	T	18	31093558	y	y	splicing	DSC2(NM_024422:exon3:c.154+1G>A;NM_004949:exon3:c.154+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.154+1G>A;ENST00000280904:exon3:c.154+1G>A)	.	.	0.999949962508874	0.944
18	28673522	C	A	18	31093559	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.G154T:p.V52F;DSC2:NM_004949:exon2:c.G154T:p.V52F;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.G154T:p.V52F;ENSG00000134755:ENST00000251081:exon2:c.G154T:p.V52F;	0.999974895261175	0.998
18	28673522	C	G	18	31093559	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.G154C:p.V52L;DSC2:NM_004949:exon2:c.G154C:p.V52L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.G154C:p.V52L;ENSG00000134755:ENST00000251081:exon2:c.G154C:p.V52L;	0.999955470746773	0.934
18	28673522	C	T	18	31093559	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.G154A:p.V52I;DSC2:NM_004949:exon2:c.G154A:p.V52I;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.G154A:p.V52I;ENSG00000134755:ENST00000251081:exon2:c.G154A:p.V52I;	0.999949238125545	0.962
18	28673523	T	A	18	31093560	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.A153T:p.R51S;DSC2:NM_004949:exon2:c.A153T:p.R51S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.A153T:p.R51S;ENSG00000134755:ENST00000251081:exon2:c.A153T:p.R51S;	0.998605684013632	0.934
18	28673523	T	C	18	31093560	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon2:c.A153G:p.R51R;DSC2:NM_004949:exon2:c.A153G:p.R51R;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.A153G:p.R51R;ENSG00000134755:ENST00000251081:exon2:c.A153G:p.R51R;	0.822684291834818	0.596
18	28673523	T	G	18	31093560	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.A153C:p.R51S;DSC2:NM_004949:exon2:c.A153C:p.R51S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.A153C:p.R51S;ENSG00000134755:ENST00000251081:exon2:c.A153C:p.R51S;	0.997047726869651	0.958
18	28673524	C	A	18	31093561	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.G152T:p.R51I;DSC2:NM_004949:exon2:c.G152T:p.R51I;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.G152T:p.R51I;ENSG00000134755:ENST00000251081:exon2:c.G152T:p.R51I;	0.988574673517048	0.748
18	28673524	C	G	18	31093561	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.G152C:p.R51T;DSC2:NM_004949:exon2:c.G152C:p.R51T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.G152C:p.R51T;ENSG00000134755:ENST00000251081:exon2:c.G152C:p.R51T;	0.336235363667824	0.49
18	28673524	C	T	18	31093561	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.G152A:p.R51K;DSC2:NM_004949:exon2:c.G152A:p.R51K;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.G152A:p.R51K;ENSG00000134755:ENST00000251081:exon2:c.G152A:p.R51K;	0.00140224863102046	0.038
18	28673605	A	C	18	31093642	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.T71G:p.I24S;DSC2:NM_004949:exon2:c.T71G:p.I24S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.T71G:p.I24S;ENSG00000134755:ENST00000251081:exon2:c.T71G:p.I24S;	0.0432338284571053	0.2
18	28673605	A	G	18	31093642	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.T71C:p.I24T;DSC2:NM_004949:exon2:c.T71C:p.I24T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.T71C:p.I24T;ENSG00000134755:ENST00000251081:exon2:c.T71C:p.I24T;	0.0143936776228398	0.126
18	28673605	A	T	18	31093642	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.T71A:p.I24N;DSC2:NM_004949:exon2:c.T71A:p.I24N;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.T71A:p.I24N;ENSG00000134755:ENST00000251081:exon2:c.T71A:p.I24N;	0.226670992387628	0.326
18	28673606	T	A	18	31093643	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.A70T:p.I24F;DSC2:NM_004949:exon2:c.A70T:p.I24F;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.A70T:p.I24F;ENSG00000134755:ENST00000251081:exon2:c.A70T:p.I24F;	3.44305793046036E-4	0.032
18	28673606	T	C	18	31093643	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.A70G:p.I24V;DSC2:NM_004949:exon2:c.A70G:p.I24V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.A70G:p.I24V;ENSG00000134755:ENST00000251081:exon2:c.A70G:p.I24V;	2.86418079259262E-5	0.064
18	28673606	T	G	18	31093643	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon2:c.A70C:p.I24L;DSC2:NM_004949:exon2:c.A70C:p.I24L;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon2:c.A70C:p.I24L;ENSG00000134755:ENST00000251081:exon2:c.A70C:p.I24L;	5.87071678556506E-4	0.022
18	28673607	C	A	18	31093644	y	y	splicing	DSC2(NM_024422:exon3:c.70-1G>T;NM_004949:exon3:c.70-1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.70-1G>T;ENST00000280904:exon3:c.70-1G>T)	.	.	0.999965143305126	0.868
18	28673607	C	G	18	31093644	y	y	splicing	DSC2(NM_024422:exon3:c.70-1G>C;NM_004949:exon3:c.70-1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.70-1G>C;ENST00000280904:exon3:c.70-1G>C)	.	.	0.999965143305126	0.85
18	28673607	C	T	18	31093644	y	y	splicing	DSC2(NM_024422:exon3:c.70-1G>A;NM_004949:exon3:c.70-1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.70-1G>A;ENST00000280904:exon3:c.70-1G>A)	.	.	0.999968430223941	0.882
18	28673608	T	A	18	31093645	y	y	splicing	DSC2(NM_024422:exon3:c.70-2A>T;NM_004949:exon3:c.70-2A>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.70-2A>T;ENST00000280904:exon3:c.70-2A>T)	.	.	0.999972155025474	0.84
18	28673608	T	C	18	31093645	y	y	splicing	DSC2(NM_024422:exon3:c.70-2A>G;NM_004949:exon3:c.70-2A>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.70-2A>G;ENST00000280904:exon3:c.70-2A>G)	.	.	0.999969255906173	0.86
18	28673608	T	G	18	31093645	y	y	splicing	DSC2(NM_024422:exon3:c.70-2A>C;NM_004949:exon3:c.70-2A>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon3:c.70-2A>C;ENST00000280904:exon3:c.70-2A>C)	.	.	0.999969255906173	0.86
18	28673609	A	C	18	31093646	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.996024226033683	0.644
18	28673609	A	G	18	31093646	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.24157985147808E-4	0.028
18	28673609	A	T	18	31093646	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0383262705493926	0.202
18	28673610	A	C	18	31093647	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.44596835817487E-5	0.018
18	28673610	A	G	18	31093647	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.5083118883595E-5	0.028
18	28673610	A	T	18	31093647	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	7.48241448700123E-5	0.018
18	28673611	A	C	18	31093648	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.112247459032596	0.36
18	28673611	A	G	18	31093648	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.002284717787587	0.052
18	28673611	A	T	18	31093648	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0118995823262607	0.342
18	28673612	A	C	18	31093649	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.00244747062276619	0.142
18	28673612	A	G	18	31093649	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.89305801683948E-4	0.004
18	28673612	A	T	18	31093649	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.0018302467014436	0.12
18	28673613	A	C	18	31093650	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	6.07073993788315E-5	0.032
18	28673613	A	G	18	31093650	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.97384480210911E-5	0.0
18	28673613	A	T	18	31093650	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.08623128098699E-4	0.04
18	28673614	A	C	18	31093651	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	0.99835336524714	0.934
18	28673614	A	G	18	31093651	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.62382457879141E-5	0.018
18	28673614	A	T	18	31093651	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.55277048267037E-4	0.082
18	28673615	T	A	18	31093652	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.12485724080855E-5	0.076
18	28673615	T	C	18	31093652	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	1.86199705552795E-5	0.092
18	28673615	T	G	18	31093652	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.37470476256426E-5	0.098
18	28673616	G	A	18	31093653	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	9.74394721892922E-6	0.02
18	28673616	G	C	18	31093653	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.7220248446768E-5	0.01
18	28673616	G	T	18	31093653	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	4.7220248446768E-5	0.008
18	28673617	A	C	18	31093654	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.7116703997469E-5	0.14
18	28673617	A	G	18	31093654	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.72961102979043E-5	0.052
18	28673617	A	T	18	31093654	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	5.94609830841856E-4	0.21
18	28673618	A	C	18	31093655	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	3.91716620312348E-5	0.028
18	28673618	A	G	18	31093655	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.68338531197387E-5	0.002
18	28673618	A	T	18	31093655	y	y	intronic	DSC2	.	.	intronic	ENSG00000134755	.	.	2.98134403838624E-5	0.026
18	28681858	A	C	18	31101895	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.81264727324246E-4	0.002
18	28681858	A	G	18	31101895	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.64281898412965E-5	0.002
18	28681858	A	T	18	31101895	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.64281898412965E-5	0.002
18	28681859	C	A	18	31101896	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.08692400722682E-5	0.0
18	28681859	C	G	18	31101896	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.94716658651354E-5	0.0
18	28681859	C	T	18	31101896	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.92769852956502E-5	0.0
18	28681860	A	C	18	31101897	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0466740691670871	0.308
18	28681860	A	G	18	31101897	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0705632784598449	0.33
18	28681860	A	T	18	31101897	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.192899353009518	0.392
18	28681861	C	A	18	31101898	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99985223519699	0.924
18	28681861	C	G	18	31101898	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998895029574077	0.976
18	28681861	C	T	18	31101898	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99935153097061	0.944
18	28681862	T	A	18	31101899	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998350198679569	0.922
18	28681862	T	C	18	31101899	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998807487222864	0.962
18	28681862	T	G	18	31101899	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.997750381731598	0.858
18	28681863	C	A	18	31101900	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.996475754788226	0.802
18	28681863	C	G	18	31101900	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999702035338141	0.902
18	28681863	C	T	18	31101900	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0526838274949353	0.254
18	28681864	A	C	18	31101901	y	y	splicing	DSC2(NM_024422:exon2:c.69+2T>G;NM_004949:exon2:c.69+2T>G)	.	.	splicing	ENSG00000134755(ENST00000251081:exon2:c.69+2T>G;ENST00000280904:exon2:c.69+2T>G)	.	.	0.999989917668626	0.896
18	28681864	A	G	18	31101901	y	y	splicing	DSC2(NM_024422:exon2:c.69+2T>C;NM_004949:exon2:c.69+2T>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon2:c.69+2T>C;ENST00000280904:exon2:c.69+2T>C)	.	.	0.99995132258935	0.828
18	28681864	A	T	18	31101901	y	y	splicing	DSC2(NM_024422:exon2:c.69+2T>A;NM_004949:exon2:c.69+2T>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon2:c.69+2T>A;ENST00000280904:exon2:c.69+2T>A)	.	.	0.999989917668626	0.926
18	28681865	C	A	18	31101902	y	y	splicing	DSC2(NM_024422:exon2:c.69+1G>T;NM_004949:exon2:c.69+1G>T)	.	.	splicing	ENSG00000134755(ENST00000251081:exon2:c.69+1G>T;ENST00000280904:exon2:c.69+1G>T)	.	.	0.999986675681007	0.926
18	28681865	C	G	18	31101902	y	y	splicing	DSC2(NM_024422:exon2:c.69+1G>C;NM_004949:exon2:c.69+1G>C)	.	.	splicing	ENSG00000134755(ENST00000251081:exon2:c.69+1G>C;ENST00000280904:exon2:c.69+1G>C)	.	.	0.999986675681007	0.926
18	28681865	C	T	18	31101902	y	y	splicing	DSC2(NM_024422:exon2:c.69+1G>A;NM_004949:exon2:c.69+1G>A)	.	.	splicing	ENSG00000134755(ENST00000251081:exon2:c.69+1G>A;ENST00000280904:exon2:c.69+1G>A)	.	.	0.999986675681007	0.926
18	28681866	C	A	18	31101903	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon1:c.G69T:p.A23A;DSC2:NM_004949:exon1:c.G69T:p.A23A;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.G69T:p.A23A;ENSG00000134755:ENST00000251081:exon1:c.G69T:p.A23A;	0.999762925760334	0.958
18	28681866	C	G	18	31101903	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon1:c.G69C:p.A23A;DSC2:NM_004949:exon1:c.G69C:p.A23A;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.G69C:p.A23A;ENSG00000134755:ENST00000251081:exon1:c.G69C:p.A23A;	0.999963465393556	0.986
18	28681866	C	T	18	31101903	y	y	exonic	DSC2	synonymous SNV	DSC2:NM_024422:exon1:c.G69A:p.A23A;DSC2:NM_004949:exon1:c.G69A:p.A23A;	exonic	ENSG00000134755	synonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.G69A:p.A23A;ENSG00000134755:ENST00000251081:exon1:c.G69A:p.A23A;	0.999874899057251	0.966
18	28681867	G	A	18	31101904	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon1:c.C68T:p.A23V;DSC2:NM_004949:exon1:c.C68T:p.A23V;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.C68T:p.A23V;ENSG00000134755:ENST00000251081:exon1:c.C68T:p.A23V;	0.00130696965385928	0.046
18	28681867	G	C	18	31101904	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon1:c.C68G:p.A23G;DSC2:NM_004949:exon1:c.C68G:p.A23G;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.C68G:p.A23G;ENSG00000134755:ENST00000251081:exon1:c.C68G:p.A23G;	0.00759707955735696	0.052
18	28681867	G	T	18	31101904	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon1:c.C68A:p.A23E;DSC2:NM_004949:exon1:c.C68A:p.A23E;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.C68A:p.A23E;ENSG00000134755:ENST00000251081:exon1:c.C68A:p.A23E;	2.37149310193851E-4	0.136
18	28681868	C	A	18	31101905	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon1:c.G67T:p.A23S;DSC2:NM_004949:exon1:c.G67T:p.A23S;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.G67T:p.A23S;ENSG00000134755:ENST00000251081:exon1:c.G67T:p.A23S;	2.8761238951976E-5	0.016
18	28681868	C	G	18	31101905	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon1:c.G67C:p.A23P;DSC2:NM_004949:exon1:c.G67C:p.A23P;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.G67C:p.A23P;ENSG00000134755:ENST00000251081:exon1:c.G67C:p.A23P;	1.22994960477929E-5	0.05
18	28681868	C	T	18	31101905	y	y	exonic	DSC2	nonsynonymous SNV	DSC2:NM_024422:exon1:c.G67A:p.A23T;DSC2:NM_004949:exon1:c.G67A:p.A23T;	exonic	ENSG00000134755	nonsynonymous SNV	ENSG00000134755:ENST00000280904:exon1:c.G67A:p.A23T;ENSG00000134755:ENST00000251081:exon1:c.G67A:p.A23T;	1.76006672563683E-5	0.03
18	28710673	T	A	18	31130710	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon16:c.A2489T:p.K830M;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257198:exon16:c.A2489T:p.K830M;	0.89037701385651	0.702
18	28710673	T	C	18	31130710	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon16:c.A2489G:p.K830R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257198:exon16:c.A2489G:p.K830R;	0.927258910921957	0.796
18	28710673	T	G	18	31130710	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon16:c.A2489C:p.K830T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257198:exon16:c.A2489C:p.K830T;	0.946687670597074	0.866
18	28710674	T	A	18	31130711	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon16:c.A2488T:p.K830X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257198:exon16:c.A2488T:p.K830X;	0.890576649462269	0.682
18	28710674	T	C	18	31130711	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon16:c.A2488G:p.K830E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257198:exon16:c.A2488G:p.K830E;	0.372979652945262	0.454
18	28710674	T	G	18	31130711	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon16:c.A2488C:p.K830Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257198:exon16:c.A2488C:p.K830Q;	0.906611779828511	0.62
18	28710675	C	A	18	31130712	y	y	splicing	DSC1(NM_004948:exon18:c.2534-1G>T;NM_024421:exon17:c.2488-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon17:c.2488-1G>T;ENST00000257197:exon18:c.2534-1G>T)	.	.	0.999990361384395	0.93
18	28710675	C	G	18	31130712	y	y	splicing	DSC1(NM_004948:exon18:c.2534-1G>C;NM_024421:exon17:c.2488-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon17:c.2488-1G>C;ENST00000257197:exon18:c.2534-1G>C)	.	.	0.999990361384395	0.93
18	28710675	C	T	18	31130712	y	y	splicing	DSC1(NM_004948:exon18:c.2534-1G>A;NM_024421:exon17:c.2488-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon17:c.2488-1G>A;ENST00000257197:exon18:c.2534-1G>A)	.	.	0.999990361384395	0.93
18	28710676	T	A	18	31130713	y	y	splicing	DSC1(NM_004948:exon18:c.2534-2A>T;NM_024421:exon17:c.2488-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon17:c.2488-2A>T;ENST00000257197:exon18:c.2534-2A>T)	.	.	0.999988247793601	0.92
18	28710676	T	C	18	31130713	y	y	splicing	DSC1(NM_004948:exon18:c.2534-2A>G;NM_024421:exon17:c.2488-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon17:c.2488-2A>G;ENST00000257197:exon18:c.2534-2A>G)	.	.	0.999988247793601	0.92
18	28710676	T	G	18	31130713	y	y	splicing	DSC1(NM_004948:exon18:c.2534-2A>C;NM_024421:exon17:c.2488-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon17:c.2488-2A>C;ENST00000257197:exon18:c.2534-2A>C)	.	.	0.999988247793601	0.92
18	28710677	G	A	18	31130714	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.946879152517321	0.318
18	28710677	G	C	18	31130714	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999954094911149	0.954
18	28710677	G	T	18	31130714	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999887927855385	0.96
18	28710678	T	A	18	31130715	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.53050495795596E-4	0.046
18	28710678	T	C	18	31130715	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00136562660372355	0.12
18	28710678	T	G	18	31130715	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.10127438447844E-4	0.066
18	28710679	A	C	18	31130716	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999905955643174	0.844
18	28710679	A	G	18	31130716	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00105136033885211	0.094
18	28710679	A	T	18	31130716	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.109696347951321	0.358
18	28710680	T	A	18	31130717	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.6364861205399E-5	0.0
18	28710680	T	C	18	31130717	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.00066634290099E-4	0.0
18	28710680	T	G	18	31130717	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.0996023172423E-5	0.0
18	28710681	C	A	18	31130718	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.2225638993658E-5	0.024
18	28710681	C	G	18	31130718	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.01470979761168E-5	0.034
18	28710681	C	T	18	31130718	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.17668001038486E-5	0.03
18	28710682	A	C	18	31130719	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.13780198064424E-4	0.086
18	28710682	A	G	18	31130719	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.54069679699171E-5	0.0
18	28710682	A	T	18	31130719	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.972696935679764	0.758
18	28710683	A	C	18	31130720	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00818054932401358	0.278
18	28710683	A	G	18	31130720	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.68037832173131E-4	0.092
18	28710683	A	T	18	31130720	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00521418112376718	0.288
18	28710684	A	C	18	31130721	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00567225206594256	0.346
18	28710684	A	G	18	31130721	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.41559563985269E-5	0.046
18	28710684	A	T	18	31130721	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0362443604444712	0.344
18	28710685	A	C	18	31130722	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.89482748915759	0.556
18	28710685	A	G	18	31130722	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00192851117516272	0.124
18	28710685	A	T	18	31130722	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.971884626673479	0.628
18	28710686	A	C	18	31130723	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.489535779384674	0.482
18	28710686	A	G	18	31130723	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.25052095653452E-4	0.088
18	28710686	A	T	18	31130723	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.499817554421112	0.556
18	28710748	T	A	18	31130785	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.41867775390624E-4	0.006
18	28710748	T	C	18	31130785	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.17503189594235E-4	0.004
18	28710748	T	G	18	31130785	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.17503189594235E-4	0.004
18	28710749	G	A	18	31130786	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0278602158370864	0.274
18	28710749	G	C	18	31130786	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.010347192022051	0.112
18	28710749	G	T	18	31130786	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0278602158370864	0.19
18	28710750	A	C	18	31130787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.222386838235996	0.554
18	28710750	A	G	18	31130787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.222386838235996	0.554
18	28710750	A	T	18	31130787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.474349078336576	0.55
18	28710751	T	A	18	31130788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.726702597113684	0.72
18	28710751	T	C	18	31130788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.474349078336576	0.592
18	28710751	T	G	18	31130788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.474349078336576	0.592
18	28710752	T	A	18	31130789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.463123479926784	0.55
18	28710752	T	C	18	31130789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.222386838235996	0.446
18	28710752	T	G	18	31130789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.222386838235996	0.446
18	28710753	T	A	18	31130790	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.474349078336576	0.546
18	28710753	T	C	18	31130790	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.222386838235996	0.448
18	28710753	T	G	18	31130790	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.222386838235996	0.466
18	28710754	A	C	18	31130791	y	y	splicing	DSC1(NM_004948:exon17:c.2533+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2533+2T>G)	.	.	0.924282330812132	0.782
18	28710754	A	G	18	31130791	y	y	splicing	DSC1(NM_004948:exon17:c.2533+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2533+2T>C)	.	.	0.924282330812132	0.78
18	28710754	A	T	18	31130791	y	y	splicing	DSC1(NM_004948:exon17:c.2533+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2533+2T>A)	.	.	0.943420802424773	0.828
18	28710755	C	A	18	31130792	y	y	splicing	DSC1(NM_004948:exon17:c.2533+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2533+1G>T)	.	.	0.995030058536757	0.886
18	28710755	C	G	18	31130792	y	y	splicing	DSC1(NM_004948:exon17:c.2533+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2533+1G>C)	.	.	0.995876797705294	0.866
18	28710755	C	T	18	31130792	y	y	splicing	DSC1(NM_004948:exon17:c.2533+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2533+1G>A)	.	.	0.995030058536757	0.892
18	28710756	C	A	18	31130793	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.101747750884609	0.244
18	28710756	C	G	18	31130793	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.0861748975146968	0.168
18	28710756	C	T	18	31130793	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.17477320534835	0.264
18	28710757	T	A	18	31130794	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.474349078336576	0.552
18	28710757	T	C	18	31130794	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.345393001444105	0.564
18	28710757	T	G	18	31130794	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.345393001444105	0.582
18	28710758	T	A	18	31130795	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.474349078336576	0.55
18	28710758	T	C	18	31130795	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.222386838235996	0.556
18	28710758	T	G	18	31130795	y	y	ncRNA_UTR3	DSC1	.	.	ncRNA_UTR3	ENSG00000134765	.	.	0.345393001444105	0.58
18	28710800	T	A	18	31130837	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_004948:exon16:c.A2489T:p.E830V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon16:c.A2489T:p.E830V;	0.92961721136914	0.814
18	28710800	T	C	18	31130837	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_004948:exon16:c.A2489G:p.E830G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon16:c.A2489G:p.E830G;	0.92961721136914	0.814
18	28710800	T	G	18	31130837	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_004948:exon16:c.A2489C:p.E830A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon16:c.A2489C:p.E830A;	0.918333893578012	0.8
18	28710801	C	A	18	31130838	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_004948:exon16:c.G2488T:p.E830X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon16:c.G2488T:p.E830X;	0.995618830681449	0.958
18	28710801	C	G	18	31130838	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_004948:exon16:c.G2488C:p.E830Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon16:c.G2488C:p.E830Q;	0.972710711965371	0.824
18	28710801	C	T	18	31130838	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_004948:exon16:c.G2488A:p.E830K;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon16:c.G2488A:p.E830K;	0.00458057458440297	0.08
18	28710802	C	A	18	31130839	y	y	splicing	DSC1(NM_004948:exon17:c.2488-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2488-1G>T)	.	.	0.99322353305357	0.854
18	28710802	C	G	18	31130839	y	y	splicing	DSC1(NM_004948:exon17:c.2488-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2488-1G>C)	.	.	0.99322353305357	0.854
18	28710802	C	T	18	31130839	y	y	splicing	DSC1(NM_004948:exon17:c.2488-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2488-1G>A)	.	.	0.995876797705294	0.878
18	28710803	T	A	18	31130840	y	y	splicing	DSC1(NM_004948:exon17:c.2488-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2488-2A>T)	.	.	0.924282330812132	0.78
18	28710803	T	C	18	31130840	y	y	splicing	DSC1(NM_004948:exon17:c.2488-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2488-2A>G)	.	.	0.92961721136914	0.782
18	28710803	T	G	18	31130840	y	y	splicing	DSC1(NM_004948:exon17:c.2488-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257197:exon17:c.2488-2A>C)	.	.	0.92961721136914	0.782
18	28710804	A	C	18	31130841	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.463123479926784	0.554
18	28710804	A	G	18	31130841	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.463123479926784	0.554
18	28710804	A	T	18	31130841	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.474349078336576	0.592
18	28710805	T	A	18	31130842	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.71666826599944E-4	0.01
18	28710805	T	C	18	31130842	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.71666826599944E-4	0.02
18	28710805	T	G	18	31130842	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.71666826599944E-4	0.018
18	28710806	A	C	18	31130843	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.222386838235996	0.448
18	28710806	A	G	18	31130843	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.222386838235996	0.448
18	28710806	A	T	18	31130843	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.325317064083526	0.582
18	28710807	T	A	18	31130844	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.61168083656048E-5	0.0
18	28710807	T	C	18	31130844	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.4518697930878E-5	0.002
18	28710807	T	G	18	31130844	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.94596726999572E-5	0.0
18	28710808	A	C	18	31130845	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.15838005414123E-4	0.008
18	28710808	A	G	18	31130845	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.15838005414123E-4	0.008
18	28710808	A	T	18	31130845	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.15838005414123E-4	0.01
18	28710809	T	A	18	31130846	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.15838005414123E-4	0.002
18	28710809	T	C	18	31130846	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.91335385279169E-4	0.002
18	28710809	T	G	18	31130846	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.91335385279169E-4	0.002
18	28710810	A	C	18	31130847	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.908
18	28710810	A	G	18	31130847	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.908
18	28710810	A	T	18	31130847	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.908
18	28710811	A	C	18	31130848	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.894
18	28710811	A	G	18	31130848	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.894
18	28710811	A	T	18	31130848	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.894
18	28710812	A	C	18	31130849	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.908
18	28710812	A	G	18	31130849	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.908
18	28710812	A	T	18	31130849	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.908
18	28710813	A	C	18	31130850	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.894
18	28710813	A	G	18	31130850	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.894
18	28710813	A	T	18	31130850	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954037698489188	0.894
18	28711549	G	A	18	31131586	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	3.41406964667218E-4	0.0
18	28711549	G	C	18	31131586	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	3.83724334551024E-4	0.012
18	28711549	G	T	18	31131586	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	3.32184421894896E-4	0.0
18	28711550	A	C	18	31131587	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	3.28114872629571E-4	0.102
18	28711550	A	G	18	31131587	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	3.28114872629571E-4	0.112
18	28711550	A	T	18	31131587	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	2.24406312353546E-4	0.094
18	28711551	A	C	18	31131588	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.865069171087995	0.632
18	28711551	A	G	18	31131588	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.814991203225943	0.654
18	28711551	A	T	18	31131588	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.990628292102393	0.692
18	28711552	C	A	18	31131589	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999963542791071	0.966
18	28711552	C	G	18	31131589	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999813502423037	0.986
18	28711552	C	T	18	31131589	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999259454841211	0.982
18	28711553	T	A	18	31131590	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.998278846438929	0.912
18	28711553	T	C	18	31131590	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.998715306615178	0.95
18	28711553	T	G	18	31131590	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999103019146433	0.918
18	28711554	T	A	18	31131591	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.998550115989214	0.826
18	28711554	T	C	18	31131591	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.111061315747898	0.382
18	28711554	T	G	18	31131591	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999809230620804	0.858
18	28711555	A	C	18	31131592	y	n	splicing	DSC1(NM_004948:exon16:c.2487+2T>G;NM_024421:exon16:c.2487+2T>G)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999988247793601	0.93
18	28711555	A	G	18	31131592	y	n	splicing	DSC1(NM_004948:exon16:c.2487+2T>C;NM_024421:exon16:c.2487+2T>C)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.988163425542712	0.668
18	28711555	A	T	18	31131592	y	n	splicing	DSC1(NM_004948:exon16:c.2487+2T>A;NM_024421:exon16:c.2487+2T>A)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999988247793601	0.93
18	28711556	C	A	18	31131593	y	n	splicing	DSC1(NM_004948:exon16:c.2487+1G>T;NM_024421:exon16:c.2487+1G>T)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999990361384395	0.936
18	28711556	C	G	18	31131593	y	n	splicing	DSC1(NM_004948:exon16:c.2487+1G>C;NM_024421:exon16:c.2487+1G>C)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999990361384395	0.936
18	28711556	C	T	18	31131593	y	n	splicing	DSC1(NM_004948:exon16:c.2487+1G>A;NM_024421:exon16:c.2487+1G>A)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999990361384395	0.936
18	28711557	T	A	18	31131594	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.A2487T:p.E829D;DSC1:NM_004948:exon15:c.A2487T:p.E829D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2487T:p.E829D;ENSG00000134765:ENST00000257198:exon15:c.A2487T:p.E829D;	0.835531846275143	0.72
18	28711557	T	C	18	31131594	y	n	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon15:c.A2487G:p.E829E;DSC1:NM_004948:exon15:c.A2487G:p.E829E;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2487G:p.E829E;ENSG00000134765:ENST00000257198:exon15:c.A2487G:p.E829E;	0.0407580844377717	0.182
18	28711557	T	G	18	31131594	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.A2487C:p.E829D;DSC1:NM_004948:exon15:c.A2487C:p.E829D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2487C:p.E829D;ENSG00000134765:ENST00000257198:exon15:c.A2487C:p.E829D;	0.812527692043358	0.82
18	28711558	T	A	18	31131595	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.A2486T:p.E829V;DSC1:NM_004948:exon15:c.A2486T:p.E829V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2486T:p.E829V;ENSG00000134765:ENST00000257198:exon15:c.A2486T:p.E829V;	0.996535169278812	0.862
18	28711558	T	C	18	31131595	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.A2486G:p.E829G;DSC1:NM_004948:exon15:c.A2486G:p.E829G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2486G:p.E829G;ENSG00000134765:ENST00000257198:exon15:c.A2486G:p.E829G;	0.995349209816427	0.854
18	28711558	T	G	18	31131595	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.A2486C:p.E829A;DSC1:NM_004948:exon15:c.A2486C:p.E829A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2486C:p.E829A;ENSG00000134765:ENST00000257198:exon15:c.A2486C:p.E829A;	0.993935470334312	0.86
18	28711559	C	A	18	31131596	y	n	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon15:c.G2485T:p.E829X;DSC1:NM_004948:exon15:c.G2485T:p.E829X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon15:c.G2485T:p.E829X;ENSG00000134765:ENST00000257198:exon15:c.G2485T:p.E829X;	0.982777598700895	0.878
18	28711559	C	G	18	31131596	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.G2485C:p.E829Q;DSC1:NM_004948:exon15:c.G2485C:p.E829Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.G2485C:p.E829Q;ENSG00000134765:ENST00000257198:exon15:c.G2485C:p.E829Q;	0.951597239349184	0.808
18	28711559	C	T	18	31131596	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.G2485A:p.E829K;DSC1:NM_004948:exon15:c.G2485A:p.E829K;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.G2485A:p.E829K;ENSG00000134765:ENST00000257198:exon15:c.G2485A:p.E829K;	0.96016315069113	0.796
18	28711804	T	A	18	31131841	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.A2240T:p.E747V;DSC1:NM_004948:exon15:c.A2240T:p.E747V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2240T:p.E747V;ENSG00000134765:ENST00000257198:exon15:c.A2240T:p.E747V;	0.621462114572354	0.672
18	28711804	T	C	18	31131841	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.A2240G:p.E747G;DSC1:NM_004948:exon15:c.A2240G:p.E747G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2240G:p.E747G;ENSG00000134765:ENST00000257198:exon15:c.A2240G:p.E747G;	0.864810219306802	0.73
18	28711804	T	G	18	31131841	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.A2240C:p.E747A;DSC1:NM_004948:exon15:c.A2240C:p.E747A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.A2240C:p.E747A;ENSG00000134765:ENST00000257198:exon15:c.A2240C:p.E747A;	0.680913686465032	0.678
18	28711805	C	A	18	31131842	y	n	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon15:c.G2239T:p.E747X;DSC1:NM_004948:exon15:c.G2239T:p.E747X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon15:c.G2239T:p.E747X;ENSG00000134765:ENST00000257198:exon15:c.G2239T:p.E747X;	0.999948006980806	0.998
18	28711805	C	G	18	31131842	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.G2239C:p.E747Q;DSC1:NM_004948:exon15:c.G2239C:p.E747Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.G2239C:p.E747Q;ENSG00000134765:ENST00000257198:exon15:c.G2239C:p.E747Q;	0.999918367790008	0.974
18	28711805	C	T	18	31131842	y	n	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon15:c.G2239A:p.E747K;DSC1:NM_004948:exon15:c.G2239A:p.E747K;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon15:c.G2239A:p.E747K;ENSG00000134765:ENST00000257198:exon15:c.G2239A:p.E747K;	0.999597968933309	0.958
18	28711806	C	A	18	31131843	y	n	splicing	DSC1(NM_004948:exon16:c.2239-1G>T;NM_024421:exon16:c.2239-1G>T)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999987816357178	0.934
18	28711806	C	G	18	31131843	y	n	splicing	DSC1(NM_004948:exon16:c.2239-1G>C;NM_024421:exon16:c.2239-1G>C)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999968560109063	0.934
18	28711806	C	T	18	31131843	y	n	splicing	DSC1(NM_004948:exon16:c.2239-1G>A;NM_024421:exon16:c.2239-1G>A)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999987816357178	0.936
18	28711807	T	A	18	31131844	y	n	splicing	DSC1(NM_004948:exon16:c.2239-2A>T;NM_024421:exon16:c.2239-2A>T)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999988247793601	0.928
18	28711807	T	C	18	31131844	y	n	splicing	DSC1(NM_004948:exon16:c.2239-2A>G;NM_024421:exon16:c.2239-2A>G)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999978952611685	0.93
18	28711807	T	G	18	31131844	y	n	splicing	DSC1(NM_004948:exon16:c.2239-2A>C;NM_024421:exon16:c.2239-2A>C)	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.999978952611685	0.926
18	28711808	A	C	18	31131845	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.856826427688078	0.662
18	28711808	A	G	18	31131845	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	2.2550882384754E-4	0.002
18	28711808	A	T	18	31131845	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.00258059720529752	0.192
18	28711809	A	C	18	31131846	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	1.40348799401672E-4	0.002
18	28711809	A	G	18	31131846	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	5.40069217388931E-5	0.0
18	28711809	A	T	18	31131846	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	6.46369471558865E-5	0.004
18	28711810	A	C	18	31131847	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.930149376275453	0.542
18	28711810	A	G	18	31131847	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.00624113116619571	0.066
18	28711810	A	T	18	31131847	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.713109134484858	0.516
18	28711811	A	C	18	31131848	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.469168198372798	0.558
18	28711811	A	G	18	31131848	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	1.5187342288516E-4	0.006
18	28711811	A	T	18	31131848	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.0367274847777769	0.394
18	28711812	G	A	18	31131849	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	7.11086881391206E-5	0.006
18	28711812	G	C	18	31131849	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.99935444306949	0.946
18	28711812	G	T	18	31131849	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	2.32974977389962E-4	0.09
18	28711813	T	A	18	31131850	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	1.58669079372979E-5	0.0
18	28711813	T	C	18	31131850	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	2.10992999739061E-5	0.002
18	28711813	T	G	18	31131850	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	1.79389728280655E-5	0.008
18	28711814	A	C	18	31131851	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.00634843777265071	0.234
18	28711814	A	G	18	31131851	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	5.38741285845648E-5	0.024
18	28711814	A	T	18	31131851	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.00240269138515703	0.226
18	28711815	A	C	18	31131852	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.013267681990288	0.47
18	28711815	A	G	18	31131852	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	4.95785503779255E-5	0.002
18	28711815	A	T	18	31131852	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.0603867543623803	0.378
18	28711816	A	C	18	31131853	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.580355132959665	0.51
18	28711816	A	G	18	31131853	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.024113251595346	0.2
18	28711816	A	T	18	31131853	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.594272342798604	0.518
18	28711817	G	A	18	31131854	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	1.6094266613394E-5	0.0
18	28711817	G	C	18	31131854	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	0.667938458005838	0.772
18	28711817	G	T	18	31131854	y	n	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_exonic	ENSG00000263698	.	.	7.28682545522481E-5	0.03
18	28712523	T	A	18	31132560	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.72067257739507E-4	0.016
18	28712523	T	C	18	31132560	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.99133889764666E-4	0.02
18	28712523	T	G	18	31132560	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.51694357154867E-4	0.032
18	28712524	G	A	18	31132561	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.34097550599923E-5	0.0
18	28712524	G	C	18	31132561	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.26954946448503E-5	0.0
18	28712524	G	T	18	31132561	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.69930370103191E-5	0.0
18	28712525	A	C	18	31132562	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.027489287341026	0.384
18	28712525	A	G	18	31132562	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0819719533390546	0.484
18	28712525	A	T	18	31132562	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0476849291679158	0.346
18	28712526	T	A	18	31132563	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.27650916147248E-4	0.032
18	28712526	T	C	18	31132563	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.1283960257416E-4	0.06
18	28712526	T	G	18	31132563	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.28682503493533E-4	0.044
18	28712527	T	A	18	31132564	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.996611091254621	0.922
18	28712527	T	C	18	31132564	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.997693824233408	0.978
18	28712527	T	G	18	31132564	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.997195987209722	0.914
18	28712528	T	A	18	31132565	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999502178774454	0.912
18	28712528	T	C	18	31132565	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.748918678919058	0.67
18	28712528	T	G	18	31132565	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999792599169004	0.91
18	28712529	A	C	18	31132566	y	y	splicing	DSC1(NM_004948:exon15:c.2238+2T>G;NM_024421:exon15:c.2238+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2238+2T>G;ENST00000257197:exon15:c.2238+2T>G)	.	.	0.999988247793601	0.928
18	28712529	A	G	18	31132566	y	y	splicing	DSC1(NM_004948:exon15:c.2238+2T>C;NM_024421:exon15:c.2238+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2238+2T>C;ENST00000257197:exon15:c.2238+2T>C)	.	.	0.98918007292081	0.652
18	28712529	A	T	18	31132566	y	y	splicing	DSC1(NM_004948:exon15:c.2238+2T>A;NM_024421:exon15:c.2238+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2238+2T>A;ENST00000257197:exon15:c.2238+2T>A)	.	.	0.999988247793601	0.928
18	28712530	C	A	18	31132567	y	y	splicing	DSC1(NM_004948:exon15:c.2238+1G>T;NM_024421:exon15:c.2238+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2238+1G>T;ENST00000257197:exon15:c.2238+1G>T)	.	.	0.999990361384395	0.938
18	28712530	C	G	18	31132567	y	y	splicing	DSC1(NM_004948:exon15:c.2238+1G>C;NM_024421:exon15:c.2238+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2238+1G>C;ENST00000257197:exon15:c.2238+1G>C)	.	.	0.999990361384395	0.938
18	28712530	C	T	18	31132567	y	y	splicing	DSC1(NM_004948:exon15:c.2238+1G>A;NM_024421:exon15:c.2238+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2238+1G>A;ENST00000257197:exon15:c.2238+1G>A)	.	.	0.999990361384395	0.938
18	28712531	C	A	18	31132568	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon14:c.G2238T:p.T746T;DSC1:NM_004948:exon14:c.G2238T:p.T746T;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.G2238T:p.T746T;ENSG00000134765:ENST00000257198:exon14:c.G2238T:p.T746T;	0.999946192333529	1.0
18	28712531	C	G	18	31132568	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon14:c.G2238C:p.T746T;DSC1:NM_004948:exon14:c.G2238C:p.T746T;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.G2238C:p.T746T;ENSG00000134765:ENST00000257198:exon14:c.G2238C:p.T746T;	0.999992929927207	0.976
18	28712531	C	T	18	31132568	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon14:c.G2238A:p.T746T;DSC1:NM_004948:exon14:c.G2238A:p.T746T;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.G2238A:p.T746T;ENSG00000134765:ENST00000257198:exon14:c.G2238A:p.T746T;	0.999979239816629	1.0
18	28712532	G	A	18	31132569	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.C2237T:p.T746M;DSC1:NM_004948:exon14:c.C2237T:p.T746M;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.C2237T:p.T746M;ENSG00000134765:ENST00000257198:exon14:c.C2237T:p.T746M;	0.0014215268608173	0.056
18	28712532	G	C	18	31132569	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.C2237G:p.T746R;DSC1:NM_004948:exon14:c.C2237G:p.T746R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.C2237G:p.T746R;ENSG00000134765:ENST00000257198:exon14:c.C2237G:p.T746R;	6.13661728140703E-4	0.142
18	28712532	G	T	18	31132569	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.C2237A:p.T746K;DSC1:NM_004948:exon14:c.C2237A:p.T746K;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.C2237A:p.T746K;ENSG00000134765:ENST00000257198:exon14:c.C2237A:p.T746K;	4.44775988199483E-5	0.14
18	28712533	T	A	18	31132570	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.A2236T:p.T746S;DSC1:NM_004948:exon14:c.A2236T:p.T746S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.A2236T:p.T746S;ENSG00000134765:ENST00000257198:exon14:c.A2236T:p.T746S;	0.949485239648837	0.62
18	28712533	T	C	18	31132570	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.A2236G:p.T746A;DSC1:NM_004948:exon14:c.A2236G:p.T746A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.A2236G:p.T746A;ENSG00000134765:ENST00000257198:exon14:c.A2236G:p.T746A;	0.194256887403321	0.388
18	28712533	T	G	18	31132570	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.A2236C:p.T746P;DSC1:NM_004948:exon14:c.A2236C:p.T746P;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.A2236C:p.T746P;ENSG00000134765:ENST00000257198:exon14:c.A2236C:p.T746P;	0.63401373682272	0.7
18	28712651	A	C	18	31132688	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.T2118G:p.C706W;DSC1:NM_004948:exon14:c.T2118G:p.C706W;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.T2118G:p.C706W;ENSG00000134765:ENST00000257198:exon14:c.T2118G:p.C706W;	2.85421840355885E-5	0.018
18	28712651	A	G	18	31132688	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon14:c.T2118C:p.C706C;DSC1:NM_004948:exon14:c.T2118C:p.C706C;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.T2118C:p.C706C;ENSG00000134765:ENST00000257198:exon14:c.T2118C:p.C706C;	2.21764787625103E-4	0.026
18	28712651	A	T	18	31132688	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon14:c.T2118A:p.C706X;DSC1:NM_004948:exon14:c.T2118A:p.C706X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon14:c.T2118A:p.C706X;ENSG00000134765:ENST00000257198:exon14:c.T2118A:p.C706X;	6.9460876051194E-5	0.296
18	28712652	C	A	18	31132689	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.G2117T:p.C706F;DSC1:NM_004948:exon14:c.G2117T:p.C706F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.G2117T:p.C706F;ENSG00000134765:ENST00000257198:exon14:c.G2117T:p.C706F;	0.999308763854822	0.86
18	28712652	C	G	18	31132689	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.G2117C:p.C706S;DSC1:NM_004948:exon14:c.G2117C:p.C706S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.G2117C:p.C706S;ENSG00000134765:ENST00000257198:exon14:c.G2117C:p.C706S;	0.996295290395635	0.826
18	28712652	C	T	18	31132689	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon14:c.G2117A:p.C706Y;DSC1:NM_004948:exon14:c.G2117A:p.C706Y;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon14:c.G2117A:p.C706Y;ENSG00000134765:ENST00000257198:exon14:c.G2117A:p.C706Y;	0.998823860233026	0.802
18	28712653	C	A	18	31132690	y	y	splicing	DSC1(NM_004948:exon15:c.2117-1G>T;NM_024421:exon15:c.2117-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2117-1G>T;ENST00000257197:exon15:c.2117-1G>T)	.	.	0.999987816357178	0.934
18	28712653	C	G	18	31132690	y	y	splicing	DSC1(NM_004948:exon15:c.2117-1G>C;NM_024421:exon15:c.2117-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2117-1G>C;ENST00000257197:exon15:c.2117-1G>C)	.	.	0.999987816357178	0.932
18	28712653	C	T	18	31132690	y	y	splicing	DSC1(NM_004948:exon15:c.2117-1G>A;NM_024421:exon15:c.2117-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2117-1G>A;ENST00000257197:exon15:c.2117-1G>A)	.	.	0.999987816357178	0.934
18	28712654	T	A	18	31132691	y	y	splicing	DSC1(NM_004948:exon15:c.2117-2A>T;NM_024421:exon15:c.2117-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2117-2A>T;ENST00000257197:exon15:c.2117-2A>T)	.	.	0.999988247793601	0.916
18	28712654	T	C	18	31132691	y	y	splicing	DSC1(NM_004948:exon15:c.2117-2A>G;NM_024421:exon15:c.2117-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2117-2A>G;ENST00000257197:exon15:c.2117-2A>G)	.	.	0.999988247793601	0.928
18	28712654	T	G	18	31132691	y	y	splicing	DSC1(NM_004948:exon15:c.2117-2A>C;NM_024421:exon15:c.2117-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon15:c.2117-2A>C;ENST00000257197:exon15:c.2117-2A>C)	.	.	0.999988247793601	0.928
18	28712655	A	C	18	31132692	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.994684872153078	0.62
18	28712655	A	G	18	31132692	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.28776387453384E-4	0.018
18	28712655	A	T	18	31132692	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00709376836496301	0.06
18	28712656	A	C	18	31132693	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.2564564982631E-4	0.01
18	28712656	A	G	18	31132693	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.26443100013038E-5	0.0
18	28712656	A	T	18	31132693	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.0801937763401E-4	0.002
18	28712657	A	C	18	31132694	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00342512074829455	0.3
18	28712657	A	G	18	31132694	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00116709654148357	0.09
18	28712657	A	T	18	31132694	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00353489853404376	0.304
18	28712658	A	C	18	31132695	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0013058467224959	0.16
18	28712658	A	G	18	31132695	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.91301632367262E-5	0.006
18	28712658	A	T	18	31132695	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00104650419922116	0.152
18	28712659	A	C	18	31132696	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.53747036242999E-5	0.004
18	28712659	A	G	18	31132696	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.84546312438515E-5	0.0
18	28712659	A	T	18	31132696	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.53747036242999E-5	0.0
18	28712660	G	A	18	31132697	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.66578238217843E-5	0.0
18	28712660	G	C	18	31132697	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.91767340969159E-5	0.006
18	28712660	G	T	18	31132697	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.11527062328111E-5	0.008
18	28712661	C	A	18	31132698	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.7662919805249E-5	0.006
18	28712661	C	G	18	31132698	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.65033855432448E-6	0.0
18	28712661	C	T	18	31132698	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.32961714350431E-5	0.0
18	28712662	A	C	18	31132699	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.36964612933985E-5	0.118
18	28712662	A	G	18	31132699	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.87708809748002E-5	0.006
18	28712662	A	T	18	31132699	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999434132795875	0.924
18	28712663	A	C	18	31132700	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00158513099928692	0.306
18	28712663	A	G	18	31132700	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.2263105106144E-4	0.052
18	28712663	A	T	18	31132700	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00404369605485993	0.33
18	28712664	A	C	18	31132701	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00102839103101988	0.192
18	28712664	A	G	18	31132701	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.50582578585106E-4	0.01
18	28712664	A	T	18	31132701	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.21790145302919E-4	0.148
18	28713846	A	C	18	31133883	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.18023931969364E-5	0.0
18	28713846	A	G	18	31133883	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.27435354663838E-5	0.02
18	28713846	A	T	18	31133883	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.72261460734365E-4	0.004
18	28713847	T	A	18	31133884	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.84172073028167E-5	0.002
18	28713847	T	C	18	31133884	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.41467804442277E-4	0.004
18	28713847	T	G	18	31133884	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.55893746659685E-4	0.0
18	28713848	A	C	18	31133885	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99589285057032	0.932
18	28713848	A	G	18	31133885	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.995876657391351	0.902
18	28713848	A	T	18	31133885	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998731784171676	0.896
18	28713849	C	A	18	31133886	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999973049774624	0.988
18	28713849	C	G	18	31133886	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999759740373992	0.954
18	28713849	C	T	18	31133886	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999978820776569	0.994
18	28713850	T	A	18	31133887	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999313758594047	0.922
18	28713850	T	C	18	31133887	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999557507191502	0.97
18	28713850	T	G	18	31133887	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998811747921638	0.934
18	28713851	T	A	18	31133888	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999838630521938	0.93
18	28713851	T	C	18	31133888	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0789223058912286	0.376
18	28713851	T	G	18	31133888	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999753558833746	0.78
18	28713852	A	C	18	31133889	y	y	splicing	DSC1(NM_004948:exon14:c.2116+2T>G;NM_024421:exon14:c.2116+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.2116+2T>G;ENST00000257197:exon14:c.2116+2T>G)	.	.	0.999988247793601	0.93
18	28713852	A	G	18	31133889	y	y	splicing	DSC1(NM_004948:exon14:c.2116+2T>C;NM_024421:exon14:c.2116+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.2116+2T>C;ENST00000257197:exon14:c.2116+2T>C)	.	.	0.993783706747518	0.686
18	28713852	A	T	18	31133889	y	y	splicing	DSC1(NM_004948:exon14:c.2116+2T>A;NM_024421:exon14:c.2116+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.2116+2T>A;ENST00000257197:exon14:c.2116+2T>A)	.	.	0.999988247793601	0.93
18	28713853	C	A	18	31133890	y	y	splicing	DSC1(NM_004948:exon14:c.2116+1G>T;NM_024421:exon14:c.2116+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.2116+1G>T;ENST00000257197:exon14:c.2116+1G>T)	.	.	0.999989072007339	0.932
18	28713853	C	G	18	31133890	y	y	splicing	DSC1(NM_004948:exon14:c.2116+1G>C;NM_024421:exon14:c.2116+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.2116+1G>C;ENST00000257197:exon14:c.2116+1G>C)	.	.	0.999989072007339	0.932
18	28713853	C	T	18	31133890	y	y	splicing	DSC1(NM_004948:exon14:c.2116+1G>A;NM_024421:exon14:c.2116+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.2116+1G>A;ENST00000257197:exon14:c.2116+1G>A)	.	.	0.999989072007339	0.932
18	28713854	A	C	18	31133891	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.T2116G:p.C706G;DSC1:NM_004948:exon13:c.T2116G:p.C706G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.T2116G:p.C706G;ENSG00000134765:ENST00000257198:exon13:c.T2116G:p.C706G;	0.422803204005601	0.244
18	28713854	A	G	18	31133891	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.T2116C:p.C706R;DSC1:NM_004948:exon13:c.T2116C:p.C706R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.T2116C:p.C706R;ENSG00000134765:ENST00000257198:exon13:c.T2116C:p.C706R;	0.980878895169192	0.736
18	28713854	A	T	18	31133891	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.T2116A:p.C706S;DSC1:NM_004948:exon13:c.T2116A:p.C706S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.T2116A:p.C706S;ENSG00000134765:ENST00000257198:exon13:c.T2116A:p.C706S;	0.895100205323839	0.588
18	28713855	T	A	18	31133892	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.A2115T:p.L705F;DSC1:NM_004948:exon13:c.A2115T:p.L705F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.A2115T:p.L705F;ENSG00000134765:ENST00000257198:exon13:c.A2115T:p.L705F;	0.0284902021266529	0.462
18	28713855	T	C	18	31133892	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon13:c.A2115G:p.L705L;DSC1:NM_004948:exon13:c.A2115G:p.L705L;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.A2115G:p.L705L;ENSG00000134765:ENST00000257198:exon13:c.A2115G:p.L705L;	0.0171026803053973	0.29
18	28713855	T	G	18	31133892	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.A2115C:p.L705F;DSC1:NM_004948:exon13:c.A2115C:p.L705F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.A2115C:p.L705F;ENSG00000134765:ENST00000257198:exon13:c.A2115C:p.L705F;	0.0895785457989617	0.542
18	28713856	A	C	18	31133893	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon13:c.T2114G:p.L705X;DSC1:NM_004948:exon13:c.T2114G:p.L705X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon13:c.T2114G:p.L705X;ENSG00000134765:ENST00000257198:exon13:c.T2114G:p.L705X;	0.111179698652619	0.524
18	28713856	A	G	18	31133893	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.T2114C:p.L705S;DSC1:NM_004948:exon13:c.T2114C:p.L705S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.T2114C:p.L705S;ENSG00000134765:ENST00000257198:exon13:c.T2114C:p.L705S;	8.13064969262855E-4	0.002
18	28713856	A	T	18	31133893	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon13:c.T2114A:p.L705X;DSC1:NM_004948:exon13:c.T2114A:p.L705X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon13:c.T2114A:p.L705X;ENSG00000134765:ENST00000257198:exon13:c.T2114A:p.L705X;	0.09251614280088	0.512
18	28714092	A	C	18	31134129	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon13:c.T1878G:p.G626G;DSC1:NM_004948:exon13:c.T1878G:p.G626G;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.T1878G:p.G626G;ENSG00000134765:ENST00000257198:exon13:c.T1878G:p.G626G;	5.79995515862997E-4	0.022
18	28714092	A	G	18	31134129	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon13:c.T1878C:p.G626G;DSC1:NM_004948:exon13:c.T1878C:p.G626G;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.T1878C:p.G626G;ENSG00000134765:ENST00000257198:exon13:c.T1878C:p.G626G;	5.79995515862997E-4	0.062
18	28714092	A	T	18	31134129	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon13:c.T1878A:p.G626G;DSC1:NM_004948:exon13:c.T1878A:p.G626G;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.T1878A:p.G626G;ENSG00000134765:ENST00000257198:exon13:c.T1878A:p.G626G;	7.03303037114708E-4	0.002
18	28714093	C	A	18	31134130	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.G1877T:p.G626V;DSC1:NM_004948:exon13:c.G1877T:p.G626V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.G1877T:p.G626V;ENSG00000134765:ENST00000257198:exon13:c.G1877T:p.G626V;	0.999532983412203	0.864
18	28714093	C	G	18	31134130	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.G1877C:p.G626A;DSC1:NM_004948:exon13:c.G1877C:p.G626A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.G1877C:p.G626A;ENSG00000134765:ENST00000257198:exon13:c.G1877C:p.G626A;	0.999470432109233	0.894
18	28714093	C	T	18	31134130	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon13:c.G1877A:p.G626D;DSC1:NM_004948:exon13:c.G1877A:p.G626D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon13:c.G1877A:p.G626D;ENSG00000134765:ENST00000257198:exon13:c.G1877A:p.G626D;	0.12703894095953	0.486
18	28714094	C	A	18	31134131	y	y	splicing	DSC1(NM_004948:exon14:c.1877-1G>T;NM_024421:exon14:c.1877-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.1877-1G>T;ENST00000257197:exon14:c.1877-1G>T)	.	.	0.999989072007339	0.934
18	28714094	C	G	18	31134131	y	y	splicing	DSC1(NM_004948:exon14:c.1877-1G>C;NM_024421:exon14:c.1877-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.1877-1G>C;ENST00000257197:exon14:c.1877-1G>C)	.	.	0.999989072007339	0.934
18	28714094	C	T	18	31134131	y	y	splicing	DSC1(NM_004948:exon14:c.1877-1G>A;NM_024421:exon14:c.1877-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.1877-1G>A;ENST00000257197:exon14:c.1877-1G>A)	.	.	0.999989072007339	0.922
18	28714095	T	A	18	31134132	y	y	splicing	DSC1(NM_004948:exon14:c.1877-2A>T;NM_024421:exon14:c.1877-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.1877-2A>T;ENST00000257197:exon14:c.1877-2A>T)	.	.	0.999988247793601	0.93
18	28714095	T	C	18	31134132	y	y	splicing	DSC1(NM_004948:exon14:c.1877-2A>G;NM_024421:exon14:c.1877-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.1877-2A>G;ENST00000257197:exon14:c.1877-2A>G)	.	.	0.999988247793601	0.93
18	28714095	T	G	18	31134132	y	y	splicing	DSC1(NM_004948:exon14:c.1877-2A>C;NM_024421:exon14:c.1877-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon14:c.1877-2A>C;ENST00000257197:exon14:c.1877-2A>C)	.	.	0.999988247793601	0.93
18	28714096	A	C	18	31134133	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.974565498712679	0.572
18	28714096	A	G	18	31134133	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.09544535420615E-4	0.012
18	28714096	A	T	18	31134133	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0107809681082673	0.188
18	28714097	G	A	18	31134134	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.97784325069268E-5	0.004
18	28714097	G	C	18	31134134	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.92785227089185E-5	0.002
18	28714097	G	T	18	31134134	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.97784325069268E-5	0.002
18	28714098	G	A	18	31134135	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.35787384269815E-5	0.002
18	28714098	G	C	18	31134135	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.5089200508641E-4	0.024
18	28714098	G	T	18	31134135	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.52557477534805E-4	0.014
18	28714099	G	A	18	31134136	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.88139086048017E-5	0.008
18	28714099	G	C	18	31134136	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.87459699902313E-4	0.108
18	28714099	G	T	18	31134136	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.41965361512092E-4	0.082
18	28714100	A	C	18	31134137	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.45124213395519E-5	0.002
18	28714100	A	G	18	31134137	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.38812115266541E-5	0.0
18	28714100	A	T	18	31134137	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.5642214515421E-4	0.008
18	28714101	A	C	18	31134138	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.79387132589952E-5	0.01
18	28714101	A	G	18	31134138	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.55651603835461E-6	0.0
18	28714101	A	T	18	31134138	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.72394426873612E-5	0.016
18	28714102	A	C	18	31134139	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.88943373004042E-4	0.074
18	28714102	A	G	18	31134139	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.87312313149645E-5	0.006
18	28714102	A	T	18	31134139	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.1469203705609E-4	0.116
18	28714103	A	C	18	31134140	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.85442030208577E-5	0.046
18	28714103	A	G	18	31134140	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.3977072597324E-5	0.0
18	28714103	A	T	18	31134140	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.01317522566217E-5	0.058
18	28714104	A	C	18	31134141	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.17488741317908E-4	0.034
18	28714104	A	G	18	31134141	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.65119222399453E-5	0.0
18	28714104	A	T	18	31134141	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.26503173314088E-4	0.032
18	28714105	A	C	18	31134142	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.88402486417623E-5	0.028
18	28714105	A	G	18	31134142	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.67480470017558E-5	0.0
18	28714105	A	T	18	31134142	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.8151332709234E-5	0.01
18	28714527	T	A	18	31134564	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.13445224646382E-4	0.0
18	28714527	T	C	18	31134564	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.09663476023153E-4	0.002
18	28714527	T	G	18	31134564	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.88004981221514E-4	0.01
18	28714528	T	A	18	31134565	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00969436755941847	0.184
18	28714528	T	C	18	31134565	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00257773966846553	0.028
18	28714528	T	G	18	31134565	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.53951002467383E-4	0.0
18	28714529	A	C	18	31134566	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.148201653898662	0.372
18	28714529	A	G	18	31134566	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.311040957205219	0.338
18	28714529	A	T	18	31134566	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.523628924061277	0.496
18	28714530	C	A	18	31134567	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999941912206701	0.928
18	28714530	C	G	18	31134567	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999974818660767	0.826
18	28714530	C	T	18	31134567	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999912971590861	0.962
18	28714531	A	C	18	31134568	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.76405446410575E-5	0.008
18	28714531	A	G	18	31134568	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.56419379969622E-4	0.07
18	28714531	A	T	18	31134568	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.3683324848541E-4	0.128
18	28714532	T	A	18	31134569	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.994416933309724	0.754
18	28714532	T	C	18	31134569	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.946786904140877	0.612
18	28714532	T	G	18	31134569	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999086982431371	0.842
18	28714533	A	C	18	31134570	y	y	splicing	DSC1(NM_004948:exon13:c.1876+2T>G;NM_024421:exon13:c.1876+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1876+2T>G;ENST00000257197:exon13:c.1876+2T>G)	.	.	0.999939020951004	0.922
18	28714533	A	G	18	31134570	y	y	splicing	DSC1(NM_004948:exon13:c.1876+2T>C;NM_024421:exon13:c.1876+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1876+2T>C;ENST00000257197:exon13:c.1876+2T>C)	.	.	0.987179783601218	0.584
18	28714533	A	T	18	31134570	y	y	splicing	DSC1(NM_004948:exon13:c.1876+2T>A;NM_024421:exon13:c.1876+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1876+2T>A;ENST00000257197:exon13:c.1876+2T>A)	.	.	0.999976368862214	0.922
18	28714534	C	A	18	31134571	y	y	splicing	DSC1(NM_004948:exon13:c.1876+1G>T;NM_024421:exon13:c.1876+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1876+1G>T;ENST00000257197:exon13:c.1876+1G>T)	.	.	0.999989072007339	0.928
18	28714534	C	G	18	31134571	y	y	splicing	DSC1(NM_004948:exon13:c.1876+1G>C;NM_024421:exon13:c.1876+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1876+1G>C;ENST00000257197:exon13:c.1876+1G>C)	.	.	0.999989072007339	0.934
18	28714534	C	T	18	31134571	y	y	splicing	DSC1(NM_004948:exon13:c.1876+1G>A;NM_024421:exon13:c.1876+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1876+1G>A;ENST00000257197:exon13:c.1876+1G>A)	.	.	0.999989072007339	0.932
18	28714535	C	A	18	31134572	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.G1876T:p.G626C;DSC1:NM_004948:exon12:c.G1876T:p.G626C;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.G1876T:p.G626C;ENSG00000134765:ENST00000257198:exon12:c.G1876T:p.G626C;	0.999962600492902	0.968
18	28714535	C	G	18	31134572	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.G1876C:p.G626R;DSC1:NM_004948:exon12:c.G1876C:p.G626R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.G1876C:p.G626R;ENSG00000134765:ENST00000257198:exon12:c.G1876C:p.G626R;	0.999989868252822	0.968
18	28714535	C	T	18	31134572	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.G1876A:p.G626S;DSC1:NM_004948:exon12:c.G1876A:p.G626S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.G1876A:p.G626S;ENSG00000134765:ENST00000257198:exon12:c.G1876A:p.G626S;	0.999980655685895	1.0
18	28714536	A	C	18	31134573	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.T1875G:p.D625E;DSC1:NM_004948:exon12:c.T1875G:p.D625E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1875G:p.D625E;ENSG00000134765:ENST00000257198:exon12:c.T1875G:p.D625E;	0.00440709011241216	0.112
18	28714536	A	G	18	31134573	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon12:c.T1875C:p.D625D;DSC1:NM_004948:exon12:c.T1875C:p.D625D;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1875C:p.D625D;ENSG00000134765:ENST00000257198:exon12:c.T1875C:p.D625D;	8.43096288078978E-4	0.064
18	28714536	A	T	18	31134573	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.T1875A:p.D625E;DSC1:NM_004948:exon12:c.T1875A:p.D625E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1875A:p.D625E;ENSG00000134765:ENST00000257198:exon12:c.T1875A:p.D625E;	0.00131984575021541	0.222
18	28714537	T	A	18	31134574	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.A1874T:p.D625V;DSC1:NM_004948:exon12:c.A1874T:p.D625V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.A1874T:p.D625V;ENSG00000134765:ENST00000257198:exon12:c.A1874T:p.D625V;	0.920706546281699	0.586
18	28714537	T	C	18	31134574	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.A1874G:p.D625G;DSC1:NM_004948:exon12:c.A1874G:p.D625G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.A1874G:p.D625G;ENSG00000134765:ENST00000257198:exon12:c.A1874G:p.D625G;	0.0178899833929431	0.202
18	28714537	T	G	18	31134574	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.A1874C:p.D625A;DSC1:NM_004948:exon12:c.A1874C:p.D625A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.A1874C:p.D625A;ENSG00000134765:ENST00000257198:exon12:c.A1874C:p.D625A;	0.00800084527222308	0.092
18	28714746	A	C	18	31134783	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon12:c.T1665G:p.V555V;DSC1:NM_004948:exon12:c.T1665G:p.V555V;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1665G:p.V555V;ENSG00000134765:ENST00000257198:exon12:c.T1665G:p.V555V;	0.0672989030257534	0.128
18	28714746	A	G	18	31134783	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon12:c.T1665C:p.V555V;DSC1:NM_004948:exon12:c.T1665C:p.V555V;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1665C:p.V555V;ENSG00000134765:ENST00000257198:exon12:c.T1665C:p.V555V;	0.035282273167376	0.182
18	28714746	A	T	18	31134783	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon12:c.T1665A:p.V555V;DSC1:NM_004948:exon12:c.T1665A:p.V555V;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1665A:p.V555V;ENSG00000134765:ENST00000257198:exon12:c.T1665A:p.V555V;	0.471358694557036	0.262
18	28714747	A	C	18	31134784	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.T1664G:p.V555G;DSC1:NM_004948:exon12:c.T1664G:p.V555G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1664G:p.V555G;ENSG00000134765:ENST00000257198:exon12:c.T1664G:p.V555G;	4.93275975500812E-5	0.082
18	28714747	A	G	18	31134784	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.T1664C:p.V555A;DSC1:NM_004948:exon12:c.T1664C:p.V555A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1664C:p.V555A;ENSG00000134765:ENST00000257198:exon12:c.T1664C:p.V555A;	1.58114651055324E-4	0.02
18	28714747	A	T	18	31134784	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon12:c.T1664A:p.V555D;DSC1:NM_004948:exon12:c.T1664A:p.V555D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon12:c.T1664A:p.V555D;ENSG00000134765:ENST00000257198:exon12:c.T1664A:p.V555D;	1.68571208091965E-5	0.002
18	28714748	C	A	18	31134785	y	y	splicing	DSC1(NM_004948:exon13:c.1664-1G>T;NM_024421:exon13:c.1664-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1664-1G>T;ENST00000257197:exon13:c.1664-1G>T)	.	.	0.999989528922238	0.936
18	28714748	C	G	18	31134785	y	y	splicing	DSC1(NM_004948:exon13:c.1664-1G>C;NM_024421:exon13:c.1664-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1664-1G>C;ENST00000257197:exon13:c.1664-1G>C)	.	.	0.999989528922238	0.936
18	28714748	C	T	18	31134785	y	y	splicing	DSC1(NM_004948:exon13:c.1664-1G>A;NM_024421:exon13:c.1664-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1664-1G>A;ENST00000257197:exon13:c.1664-1G>A)	.	.	0.999989528922238	0.936
18	28714749	T	A	18	31134786	y	y	splicing	DSC1(NM_004948:exon13:c.1664-2A>T;NM_024421:exon13:c.1664-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1664-2A>T;ENST00000257197:exon13:c.1664-2A>T)	.	.	0.999990764389106	0.94
18	28714749	T	C	18	31134786	y	y	splicing	DSC1(NM_004948:exon13:c.1664-2A>G;NM_024421:exon13:c.1664-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1664-2A>G;ENST00000257197:exon13:c.1664-2A>G)	.	.	0.999990764389106	0.94
18	28714749	T	G	18	31134786	y	y	splicing	DSC1(NM_004948:exon13:c.1664-2A>C;NM_024421:exon13:c.1664-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon13:c.1664-2A>C;ENST00000257197:exon13:c.1664-2A>C)	.	.	0.999990764389106	0.94
18	28714750	A	C	18	31134787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99554933489747	0.648
18	28714750	A	G	18	31134787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.67062065957916E-5	0.036
18	28714750	A	T	18	31134787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.57034705268734	0.532
18	28714751	A	C	18	31134788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.44328536785427E-4	0.002
18	28714751	A	G	18	31134788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.25653413390106E-4	0.006
18	28714751	A	T	18	31134788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.40834189092985E-5	0.0
18	28714752	G	A	18	31134789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.74668863281629E-5	0.028
18	28714752	G	C	18	31134789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00353002534274745	0.126
18	28714752	G	T	18	31134789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00264687917623545	0.106
18	28714753	A	C	18	31134790	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999958898757412	0.972
18	28714753	A	G	18	31134790	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.99478018113451E-5	0.016
18	28714753	A	T	18	31134790	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0308430840326769	0.456
18	28714754	T	A	18	31134791	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.31557363134431E-6	0.024
18	28714754	T	C	18	31134791	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.971540882611497	0.962
18	28714754	T	G	18	31134791	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.83362168206911E-6	0.002
18	28714755	T	A	18	31134792	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.26075798717558E-5	0.022
18	28714755	T	C	18	31134792	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.94024909761846E-5	0.0
18	28714755	T	G	18	31134792	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.45612225627207E-5	0.0
18	28714756	A	C	18	31134793	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00921740477940564	0.344
18	28714756	A	G	18	31134793	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.56476414680294E-4	0.042
18	28714756	A	T	18	31134793	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0213430546284981	0.428
18	28714757	A	C	18	31134794	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999960270685239	0.986
18	28714757	A	G	18	31134794	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0147598603890758	0.294
18	28714757	A	T	18	31134794	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.990138061621208	0.794
18	28714758	T	A	18	31134795	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.81736704481743E-4	0.108
18	28714758	T	C	18	31134795	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999146885080916	0.968
18	28714758	T	G	18	31134795	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.11620093101922E-4	0.0
18	28714759	T	A	18	31134796	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.21684035897407E-5	0.132
18	28714759	T	C	18	31134796	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.36238360488387E-4	0.02
18	28714759	T	G	18	31134796	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.97336075671208E-5	0.002
18	28719703	G	A	18	31139740	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.03885628851148E-5	0.0
18	28719703	G	C	18	31139740	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.24200242815801E-5	0.0
18	28719703	G	T	18	31139740	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.27477746119029E-5	0.0
18	28719704	C	A	18	31139741	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.22244207639756E-4	0.0
18	28719704	C	G	18	31139741	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.03486456168554E-4	0.0
18	28719704	C	T	18	31139741	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.69420461982139E-4	0.002
18	28719705	A	C	18	31139742	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.839742996301183	0.424
18	28719705	A	G	18	31139742	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.931043336309206	0.558
18	28719705	A	T	18	31139742	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.983374664339789	0.658
18	28719706	C	A	18	31139743	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999504654907295	0.866
18	28719706	C	G	18	31139743	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999579410913638	0.888
18	28719706	C	T	18	31139743	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999816481206878	0.962
18	28719707	T	A	18	31139744	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.881057293464468	0.472
18	28719707	T	C	18	31139744	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.833888731240679	0.468
18	28719707	T	G	18	31139744	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.131733517359882	0.218
18	28719708	C	A	18	31139745	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0129343723338651	0.332
18	28719708	C	G	18	31139745	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0182152974077659	0.322
18	28719708	C	T	18	31139745	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.78269406888615E-5	0.0
18	28719709	A	C	18	31139746	y	y	splicing	DSC1(NM_004948:exon12:c.1663+2T>G;NM_024421:exon12:c.1663+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1663+2T>G;ENST00000257197:exon12:c.1663+2T>G)	.	.	0.999988247793601	0.93
18	28719709	A	G	18	31139746	y	y	splicing	DSC1(NM_004948:exon12:c.1663+2T>C;NM_024421:exon12:c.1663+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1663+2T>C;ENST00000257197:exon12:c.1663+2T>C)	.	.	0.999943260809542	0.866
18	28719709	A	T	18	31139746	y	y	splicing	DSC1(NM_004948:exon12:c.1663+2T>A;NM_024421:exon12:c.1663+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1663+2T>A;ENST00000257197:exon12:c.1663+2T>A)	.	.	0.999988247793601	0.93
18	28719710	C	A	18	31139747	y	y	splicing	DSC1(NM_004948:exon12:c.1663+1G>T;NM_024421:exon12:c.1663+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1663+1G>T;ENST00000257197:exon12:c.1663+1G>T)	.	.	0.999989072007339	0.934
18	28719710	C	G	18	31139747	y	y	splicing	DSC1(NM_004948:exon12:c.1663+1G>C;NM_024421:exon12:c.1663+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1663+1G>C;ENST00000257197:exon12:c.1663+1G>C)	.	.	0.999989072007339	0.934
18	28719710	C	T	18	31139747	y	y	splicing	DSC1(NM_004948:exon12:c.1663+1G>A;NM_024421:exon12:c.1663+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1663+1G>A;ENST00000257197:exon12:c.1663+1G>A)	.	.	0.999989072007339	0.934
18	28719711	C	A	18	31139748	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.G1663T:p.V555F;DSC1:NM_004948:exon11:c.G1663T:p.V555F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.G1663T:p.V555F;ENSG00000134765:ENST00000257198:exon11:c.G1663T:p.V555F;	0.926843187159966	0.584
18	28719711	C	G	18	31139748	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.G1663C:p.V555L;DSC1:NM_004948:exon11:c.G1663C:p.V555L;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.G1663C:p.V555L;ENSG00000134765:ENST00000257198:exon11:c.G1663C:p.V555L;	0.77527267407942	0.562
18	28719711	C	T	18	31139748	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.G1663A:p.V555I;DSC1:NM_004948:exon11:c.G1663A:p.V555I;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.G1663A:p.V555I;ENSG00000134765:ENST00000257198:exon11:c.G1663A:p.V555I;	0.648619348379892	0.454
18	28719712	T	A	18	31139749	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon11:c.A1662T:p.A554A;DSC1:NM_004948:exon11:c.A1662T:p.A554A;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.A1662T:p.A554A;ENSG00000134765:ENST00000257198:exon11:c.A1662T:p.A554A;	0.105161462953999	0.462
18	28719712	T	C	18	31139749	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon11:c.A1662G:p.A554A;DSC1:NM_004948:exon11:c.A1662G:p.A554A;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.A1662G:p.A554A;ENSG00000134765:ENST00000257198:exon11:c.A1662G:p.A554A;	0.312162987756858	0.346
18	28719712	T	G	18	31139749	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon11:c.A1662C:p.A554A;DSC1:NM_004948:exon11:c.A1662C:p.A554A;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.A1662C:p.A554A;ENSG00000134765:ENST00000257198:exon11:c.A1662C:p.A554A;	0.263310865339416	0.522
18	28719713	G	A	18	31139750	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.C1661T:p.A554V;DSC1:NM_004948:exon11:c.C1661T:p.A554V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.C1661T:p.A554V;ENSG00000134765:ENST00000257198:exon11:c.C1661T:p.A554V;	0.00662859430674926	0.19
18	28719713	G	C	18	31139750	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.C1661G:p.A554G;DSC1:NM_004948:exon11:c.C1661G:p.A554G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.C1661G:p.A554G;ENSG00000134765:ENST00000257198:exon11:c.C1661G:p.A554G;	4.61457654448556E-4	0.084
18	28719713	G	T	18	31139750	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.C1661A:p.A554E;DSC1:NM_004948:exon11:c.C1661A:p.A554E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.C1661A:p.A554E;ENSG00000134765:ENST00000257198:exon11:c.C1661A:p.A554E;	3.99553734968704E-5	0.098
18	28719852	A	C	18	31139889	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.T1522G:p.Y508D;DSC1:NM_004948:exon11:c.T1522G:p.Y508D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.T1522G:p.Y508D;ENSG00000134765:ENST00000257198:exon11:c.T1522G:p.Y508D;	0.210498306884832	0.342
18	28719852	A	G	18	31139889	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.T1522C:p.Y508H;DSC1:NM_004948:exon11:c.T1522C:p.Y508H;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.T1522C:p.Y508H;ENSG00000134765:ENST00000257198:exon11:c.T1522C:p.Y508H;	0.339169407307268	0.39
18	28719852	A	T	18	31139889	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.T1522A:p.Y508N;DSC1:NM_004948:exon11:c.T1522A:p.Y508N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.T1522A:p.Y508N;ENSG00000134765:ENST00000257198:exon11:c.T1522A:p.Y508N;	0.222572568290232	0.348
18	28719853	C	A	18	31139890	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.G1521T:p.R507S;DSC1:NM_004948:exon11:c.G1521T:p.R507S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.G1521T:p.R507S;ENSG00000134765:ENST00000257198:exon11:c.G1521T:p.R507S;	0.836918478062463	0.716
18	28719853	C	G	18	31139890	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon11:c.G1521C:p.R507S;DSC1:NM_004948:exon11:c.G1521C:p.R507S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.G1521C:p.R507S;ENSG00000134765:ENST00000257198:exon11:c.G1521C:p.R507S;	0.472852162971519	0.628
18	28719853	C	T	18	31139890	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon11:c.G1521A:p.R507R;DSC1:NM_004948:exon11:c.G1521A:p.R507R;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon11:c.G1521A:p.R507R;ENSG00000134765:ENST00000257198:exon11:c.G1521A:p.R507R;	0.0681844110697788	0.39
18	28719854	C	A	18	31139891	y	y	splicing	DSC1(NM_004948:exon12:c.1521-1G>T;NM_024421:exon12:c.1521-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1521-1G>T;ENST00000257197:exon12:c.1521-1G>T)	.	.	0.999960122268042	0.872
18	28719854	C	G	18	31139891	y	y	splicing	DSC1(NM_004948:exon12:c.1521-1G>C;NM_024421:exon12:c.1521-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1521-1G>C;ENST00000257197:exon12:c.1521-1G>C)	.	.	0.999960122268042	0.868
18	28719854	C	T	18	31139891	y	y	splicing	DSC1(NM_004948:exon12:c.1521-1G>A;NM_024421:exon12:c.1521-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1521-1G>A;ENST00000257197:exon12:c.1521-1G>A)	.	.	0.999960122268042	0.872
18	28719855	T	A	18	31139892	y	y	splicing	DSC1(NM_004948:exon12:c.1521-2A>T;NM_024421:exon12:c.1521-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1521-2A>T;ENST00000257197:exon12:c.1521-2A>T)	.	.	0.99994515364607	0.888
18	28719855	T	C	18	31139892	y	y	splicing	DSC1(NM_004948:exon12:c.1521-2A>G;NM_024421:exon12:c.1521-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1521-2A>G;ENST00000257197:exon12:c.1521-2A>G)	.	.	0.99994515364607	0.886
18	28719855	T	G	18	31139892	y	y	splicing	DSC1(NM_004948:exon12:c.1521-2A>C;NM_024421:exon12:c.1521-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon12:c.1521-2A>C;ENST00000257197:exon12:c.1521-2A>C)	.	.	0.99994515364607	0.886
18	28719856	A	C	18	31139893	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.973325947923504	0.638
18	28719856	A	G	18	31139893	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00243005879006913	0.054
18	28719856	A	T	18	31139893	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.502729571972818	0.502
18	28719857	A	C	18	31139894	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999436667640384	0.976
18	28719857	A	G	18	31139894	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.77167021038005E-5	0.068
18	28719857	A	T	18	31139894	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00102188503396914	0.034
18	28719858	T	A	18	31139895	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00461209101586413	0.072
18	28719858	T	C	18	31139895	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999221687738013	0.908
18	28719858	T	G	18	31139895	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00151756966964206	0.028
18	28719859	T	A	18	31139896	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.08785559410459E-5	0.006
18	28719859	T	C	18	31139896	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.926341925480071	0.932
18	28719859	T	G	18	31139896	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.67717475578305E-5	0.08
18	28719860	T	A	18	31139897	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00141364927505049	0.038
18	28719860	T	C	18	31139897	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998357716235137	0.884
18	28719860	T	G	18	31139897	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0010193657672295	0.034
18	28719861	T	A	18	31139898	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.16015776790003E-4	0.04
18	28719861	T	C	18	31139898	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999264721977576	0.958
18	28719861	T	G	18	31139898	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.78038603951433E-4	0.052
18	28719862	T	A	18	31139899	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.40940410137169E-4	0.056
18	28719862	T	C	18	31139899	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.33270196123713E-4	0.048
18	28719862	T	G	18	31139899	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.09746192861186E-4	0.058
18	28719863	A	C	18	31139900	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.997447016316478	0.864
18	28719863	A	G	18	31139900	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.347213847596116	0.472
18	28719863	A	T	18	31139900	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99757528055075	0.832
18	28719864	G	A	18	31139901	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0161699057826732	0.474
18	28719864	G	C	18	31139901	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.02490282952852	0.208
18	28719864	G	T	18	31139901	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0295284913111969	0.258
18	28719865	A	C	18	31139902	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998471952164373	0.854
18	28719865	A	G	18	31139902	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.426216631157061	0.472
18	28719865	A	T	18	31139902	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998662610078742	0.9
18	28719997	T	A	18	31140034	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.39847711727684E-4	0.048
18	28719997	T	C	18	31140034	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.92370547209634E-5	0.08
18	28719997	T	G	18	31140034	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.94152959870587E-5	0.016
18	28719998	A	C	18	31140035	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.1940538785416E-5	0.006
18	28719998	A	G	18	31140035	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.1940538785416E-5	0.02
18	28719998	A	T	18	31140035	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.64458097189716E-5	0.012
18	28719999	C	A	18	31140036	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.01154431456742E-5	0.02
18	28719999	C	G	18	31140036	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.42997462807245E-5	0.064
18	28719999	C	T	18	31140036	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.46945842090026E-4	0.33
18	28720000	A	C	18	31140037	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.55060846347558E-5	0.01
18	28720000	A	G	18	31140037	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.03422335943779E-5	0.084
18	28720000	A	T	18	31140037	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.29451296718814E-5	0.144
18	28720001	T	A	18	31140038	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99375033186781	0.824
18	28720001	T	C	18	31140038	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.995271068079452	0.806
18	28720001	T	G	18	31140038	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.132127909387325	0.506
18	28720002	C	A	18	31140039	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.184469468212231	0.512
18	28720002	C	G	18	31140039	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.214323065387383	0.502
18	28720002	C	T	18	31140039	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.35440261274469E-5	0.064
18	28720003	A	C	18	31140040	y	y	splicing	DSC1(NM_004948:exon11:c.1520+2T>G;NM_024421:exon11:c.1520+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1520+2T>G;ENST00000257197:exon11:c.1520+2T>G)	.	.	0.999965678899366	0.944
18	28720003	A	G	18	31140040	y	y	splicing	DSC1(NM_004948:exon11:c.1520+2T>C;NM_024421:exon11:c.1520+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1520+2T>C;ENST00000257197:exon11:c.1520+2T>C)	.	.	0.999752549399631	0.916
18	28720003	A	T	18	31140040	y	y	splicing	DSC1(NM_004948:exon11:c.1520+2T>A;NM_024421:exon11:c.1520+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1520+2T>A;ENST00000257197:exon11:c.1520+2T>A)	.	.	0.999965678899366	0.946
18	28720004	C	A	18	31140041	y	y	splicing	DSC1(NM_004948:exon11:c.1520+1G>T;NM_024421:exon11:c.1520+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1520+1G>T;ENST00000257197:exon11:c.1520+1G>T)	.	.	0.99996808587964	0.916
18	28720004	C	G	18	31140041	y	y	splicing	DSC1(NM_004948:exon11:c.1520+1G>C;NM_024421:exon11:c.1520+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1520+1G>C;ENST00000257197:exon11:c.1520+1G>C)	.	.	0.99996808587964	0.918
18	28720004	C	T	18	31140041	y	y	splicing	DSC1(NM_004948:exon11:c.1520+1G>A;NM_024421:exon11:c.1520+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1520+1G>A;ENST00000257197:exon11:c.1520+1G>A)	.	.	0.99996808587964	0.914
18	28720005	C	A	18	31140042	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.G1520T:p.R507M;DSC1:NM_004948:exon10:c.G1520T:p.R507M;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.G1520T:p.R507M;ENSG00000134765:ENST00000257198:exon10:c.G1520T:p.R507M;	0.999992021897615	0.996
18	28720005	C	G	18	31140042	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.G1520C:p.R507T;DSC1:NM_004948:exon10:c.G1520C:p.R507T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.G1520C:p.R507T;ENSG00000134765:ENST00000257198:exon10:c.G1520C:p.R507T;	0.999993203551835	0.992
18	28720005	C	T	18	31140042	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.G1520A:p.R507K;DSC1:NM_004948:exon10:c.G1520A:p.R507K;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.G1520A:p.R507K;ENSG00000134765:ENST00000257198:exon10:c.G1520A:p.R507K;	0.999996549156028	0.998
18	28720006	T	A	18	31140043	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.A1519T:p.R507W;DSC1:NM_004948:exon10:c.A1519T:p.R507W;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.A1519T:p.R507W;ENSG00000134765:ENST00000257198:exon10:c.A1519T:p.R507W;	0.999968151338707	0.968
18	28720006	T	C	18	31140043	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.A1519G:p.R507G;DSC1:NM_004948:exon10:c.A1519G:p.R507G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.A1519G:p.R507G;ENSG00000134765:ENST00000257198:exon10:c.A1519G:p.R507G;	0.999968296339324	0.988
18	28720006	T	G	18	31140043	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon10:c.A1519C:p.R507R;DSC1:NM_004948:exon10:c.A1519C:p.R507R;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.A1519C:p.R507R;ENSG00000134765:ENST00000257198:exon10:c.A1519C:p.R507R;	0.995451883375105	0.874
18	28720007	T	A	18	31140044	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.A1518T:p.L506F;DSC1:NM_004948:exon10:c.A1518T:p.L506F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.A1518T:p.L506F;ENSG00000134765:ENST00000257198:exon10:c.A1518T:p.L506F;	0.549205185411251	0.668
18	28720007	T	C	18	31140044	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon10:c.A1518G:p.L506L;DSC1:NM_004948:exon10:c.A1518G:p.L506L;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.A1518G:p.L506L;ENSG00000134765:ENST00000257198:exon10:c.A1518G:p.L506L;	0.00136001029762073	0.092
18	28720007	T	G	18	31140044	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.A1518C:p.L506F;DSC1:NM_004948:exon10:c.A1518C:p.L506F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.A1518C:p.L506F;ENSG00000134765:ENST00000257198:exon10:c.A1518C:p.L506F;	0.00561950890435014	0.064
18	28720263	G	A	18	31140300	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.C1262T:p.P421L;DSC1:NM_004948:exon10:c.C1262T:p.P421L;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.C1262T:p.P421L;ENSG00000134765:ENST00000257198:exon10:c.C1262T:p.P421L;	0.983735374738648	0.788
18	28720263	G	C	18	31140300	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.C1262G:p.P421R;DSC1:NM_004948:exon10:c.C1262G:p.P421R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.C1262G:p.P421R;ENSG00000134765:ENST00000257198:exon10:c.C1262G:p.P421R;	0.984075704363877	0.684
18	28720263	G	T	18	31140300	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.C1262A:p.P421Q;DSC1:NM_004948:exon10:c.C1262A:p.P421Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.C1262A:p.P421Q;ENSG00000134765:ENST00000257198:exon10:c.C1262A:p.P421Q;	0.987916718744598	0.702
18	28720264	G	A	18	31140301	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.C1261T:p.P421S;DSC1:NM_004948:exon10:c.C1261T:p.P421S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.C1261T:p.P421S;ENSG00000134765:ENST00000257198:exon10:c.C1261T:p.P421S;	0.00215629859237926	0.21
18	28720264	G	C	18	31140301	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.C1261G:p.P421A;DSC1:NM_004948:exon10:c.C1261G:p.P421A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.C1261G:p.P421A;ENSG00000134765:ENST00000257198:exon10:c.C1261G:p.P421A;	0.0014963136135708	0.218
18	28720264	G	T	18	31140301	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon10:c.C1261A:p.P421T;DSC1:NM_004948:exon10:c.C1261A:p.P421T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon10:c.C1261A:p.P421T;ENSG00000134765:ENST00000257198:exon10:c.C1261A:p.P421T;	1.32554205364627E-4	0.28
18	28720265	C	A	18	31140302	y	y	splicing	DSC1(NM_004948:exon11:c.1261-1G>T;NM_024421:exon11:c.1261-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1261-1G>T;ENST00000257197:exon11:c.1261-1G>T)	.	.	0.999982627682474	0.902
18	28720265	C	G	18	31140302	y	y	splicing	DSC1(NM_004948:exon11:c.1261-1G>C;NM_024421:exon11:c.1261-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1261-1G>C;ENST00000257197:exon11:c.1261-1G>C)	.	.	0.999982627682474	0.902
18	28720265	C	T	18	31140302	y	y	splicing	DSC1(NM_004948:exon11:c.1261-1G>A;NM_024421:exon11:c.1261-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1261-1G>A;ENST00000257197:exon11:c.1261-1G>A)	.	.	0.999982627682474	0.902
18	28720266	T	A	18	31140303	y	y	splicing	DSC1(NM_004948:exon11:c.1261-2A>T;NM_024421:exon11:c.1261-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1261-2A>T;ENST00000257197:exon11:c.1261-2A>T)	.	.	0.999979394981131	0.908
18	28720266	T	C	18	31140303	y	y	splicing	DSC1(NM_004948:exon11:c.1261-2A>G;NM_024421:exon11:c.1261-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1261-2A>G;ENST00000257197:exon11:c.1261-2A>G)	.	.	0.999979394981131	0.908
18	28720266	T	G	18	31140303	y	y	splicing	DSC1(NM_004948:exon11:c.1261-2A>C;NM_024421:exon11:c.1261-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon11:c.1261-2A>C;ENST00000257197:exon11:c.1261-2A>C)	.	.	0.999979394981131	0.908
18	28720267	G	A	18	31140304	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.178419235464856	0.386
18	28720267	G	C	18	31140304	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998937635994048	0.878
18	28720267	G	T	18	31140304	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.993678215825115	0.868
18	28720268	T	A	18	31140305	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0371581994843656	0.13
18	28720268	T	C	18	31140305	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998750714914263	0.962
18	28720268	T	G	18	31140305	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00681487694436266	0.104
18	28720269	T	A	18	31140306	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.32014135225397E-4	0.092
18	28720269	T	C	18	31140306	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00238971987094842	0.072
18	28720269	T	G	18	31140306	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.75081801380944E-4	0.022
18	28720270	A	C	18	31140307	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0365770603916923	0.326
18	28720270	A	G	18	31140307	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.24788076075229E-5	0.008
18	28720270	A	T	18	31140307	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0340912064926716	0.252
18	28720271	A	C	18	31140308	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.916197293465761	0.57
18	28720271	A	G	18	31140308	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.21555405343595E-4	0.032
18	28720271	A	T	18	31140308	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.962427948157107	0.678
18	28720272	A	C	18	31140309	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999359063881792	0.956
18	28720272	A	G	18	31140309	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.08327137841555E-4	0.034
18	28720272	A	T	18	31140309	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.329290545691396	0.436
18	28720273	T	A	18	31140310	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.76231435298672E-5	0.194
18	28720273	T	C	18	31140310	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.31277195078786E-5	0.06
18	28720273	T	G	18	31140310	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.9486804287334E-5	0.146
18	28720274	A	C	18	31140311	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.611720866222149	0.626
18	28720274	A	G	18	31140311	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.09965074917789E-4	0.078
18	28720274	A	T	18	31140311	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.368835439736952	0.58
18	28720275	A	C	18	31140312	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99879191259173	0.892
18	28720275	A	G	18	31140312	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.989319542029093	0.81
18	28720275	A	T	18	31140312	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999621403355186	0.956
18	28720276	G	A	18	31140313	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.32056555943807E-5	0.02
18	28720276	G	C	18	31140313	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00523317954452328	0.12
18	28720276	G	T	18	31140313	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00774983232072443	0.124
18	28721954	T	A	18	31141991	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.28806331816231E-4	0.014
18	28721954	T	C	18	31141991	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.28806331816231E-4	0.024
18	28721954	T	G	18	31141991	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.28806331816231E-4	0.034
18	28721955	T	A	18	31141992	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.18936306962426E-4	0.032
18	28721955	T	C	18	31141992	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.0924668055154E-4	0.002
18	28721955	T	G	18	31141992	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.21775140396569E-5	0.0
18	28721956	G	A	18	31141993	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.28801148860412E-5	0.01
18	28721956	G	C	18	31141993	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.4961690097673E-5	0.018
18	28721956	G	T	18	31141993	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.22777472270027E-4	0.014
18	28721957	T	A	18	31141994	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.86899599062148E-4	0.026
18	28721957	T	C	18	31141994	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.00708699357887E-4	0.05
18	28721957	T	G	18	31141994	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.00046597155082E-4	0.036
18	28721958	T	A	18	31141995	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.700075030814551	0.474
18	28721958	T	C	18	31141995	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.592485307301426	0.394
18	28721958	T	G	18	31141995	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.489253038997353	0.362
18	28721959	T	A	18	31141996	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99993056766648	0.972
18	28721959	T	C	18	31141996	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999235180565903	0.93
18	28721959	T	G	18	31141996	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999946166830722	0.962
18	28721960	A	C	18	31141997	y	y	splicing	DSC1(NM_004948:exon10:c.1260+2T>G;NM_024421:exon10:c.1260+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1260+2T>G;ENST00000257197:exon10:c.1260+2T>G)	.	.	0.999988247793601	0.93
18	28721960	A	G	18	31141997	y	y	splicing	DSC1(NM_004948:exon10:c.1260+2T>C;NM_024421:exon10:c.1260+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1260+2T>C;ENST00000257197:exon10:c.1260+2T>C)	.	.	0.99340600729494	0.68
18	28721960	A	T	18	31141997	y	y	splicing	DSC1(NM_004948:exon10:c.1260+2T>A;NM_024421:exon10:c.1260+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1260+2T>A;ENST00000257197:exon10:c.1260+2T>A)	.	.	0.999988247793601	0.93
18	28721961	C	A	18	31141998	y	y	splicing	DSC1(NM_004948:exon10:c.1260+1G>T;NM_024421:exon10:c.1260+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1260+1G>T;ENST00000257197:exon10:c.1260+1G>T)	.	.	0.999990361384395	0.938
18	28721961	C	G	18	31141998	y	y	splicing	DSC1(NM_004948:exon10:c.1260+1G>C;NM_024421:exon10:c.1260+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1260+1G>C;ENST00000257197:exon10:c.1260+1G>C)	.	.	0.999990361384395	0.938
18	28721961	C	T	18	31141998	y	y	splicing	DSC1(NM_004948:exon10:c.1260+1G>A;NM_024421:exon10:c.1260+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1260+1G>A;ENST00000257197:exon10:c.1260+1G>A)	.	.	0.999990361384395	0.938
18	28721962	C	A	18	31141999	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.G1260T:p.K420N;DSC1:NM_004948:exon9:c.G1260T:p.K420N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.G1260T:p.K420N;ENSG00000134765:ENST00000257198:exon9:c.G1260T:p.K420N;	0.999989815109463	1.0
18	28721962	C	G	18	31141999	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.G1260C:p.K420N;DSC1:NM_004948:exon9:c.G1260C:p.K420N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.G1260C:p.K420N;ENSG00000134765:ENST00000257198:exon9:c.G1260C:p.K420N;	0.999998122414291	1.0
18	28721962	C	T	18	31141999	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon9:c.G1260A:p.K420K;DSC1:NM_004948:exon9:c.G1260A:p.K420K;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.G1260A:p.K420K;ENSG00000134765:ENST00000257198:exon9:c.G1260A:p.K420K;	0.9999797655373	1.0
18	28721963	T	A	18	31142000	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.A1259T:p.K420M;DSC1:NM_004948:exon9:c.A1259T:p.K420M;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.A1259T:p.K420M;ENSG00000134765:ENST00000257198:exon9:c.A1259T:p.K420M;	0.999685713915727	0.992
18	28721963	T	C	18	31142000	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.A1259G:p.K420R;DSC1:NM_004948:exon9:c.A1259G:p.K420R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.A1259G:p.K420R;ENSG00000134765:ENST00000257198:exon9:c.A1259G:p.K420R;	0.999654072378404	0.986
18	28721963	T	G	18	31142000	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.A1259C:p.K420T;DSC1:NM_004948:exon9:c.A1259C:p.K420T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.A1259C:p.K420T;ENSG00000134765:ENST00000257198:exon9:c.A1259C:p.K420T;	0.997437451276816	0.912
18	28721964	T	A	18	31142001	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon9:c.A1258T:p.K420X;DSC1:NM_004948:exon9:c.A1258T:p.K420X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon9:c.A1258T:p.K420X;ENSG00000134765:ENST00000257198:exon9:c.A1258T:p.K420X;	0.846809888872901	0.754
18	28721964	T	C	18	31142001	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.A1258G:p.K420E;DSC1:NM_004948:exon9:c.A1258G:p.K420E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.A1258G:p.K420E;ENSG00000134765:ENST00000257198:exon9:c.A1258G:p.K420E;	0.00341345569124411	0.06
18	28721964	T	G	18	31142001	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.A1258C:p.K420Q;DSC1:NM_004948:exon9:c.A1258C:p.K420Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.A1258C:p.K420Q;ENSG00000134765:ENST00000257198:exon9:c.A1258C:p.K420Q;	0.0336408613072691	0.22
18	28722146	T	A	18	31142183	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.A1076T:p.Y359F;DSC1:NM_004948:exon9:c.A1076T:p.Y359F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.A1076T:p.Y359F;ENSG00000134765:ENST00000257198:exon9:c.A1076T:p.Y359F;	0.922732281580616	0.78
18	28722146	T	C	18	31142183	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.A1076G:p.Y359C;DSC1:NM_004948:exon9:c.A1076G:p.Y359C;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.A1076G:p.Y359C;ENSG00000134765:ENST00000257198:exon9:c.A1076G:p.Y359C;	0.941931994332372	0.742
18	28722146	T	G	18	31142183	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.A1076C:p.Y359S;DSC1:NM_004948:exon9:c.A1076C:p.Y359S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.A1076C:p.Y359S;ENSG00000134765:ENST00000257198:exon9:c.A1076C:p.Y359S;	0.93322512916293	0.766
18	28722147	A	C	18	31142184	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.T1075G:p.Y359D;DSC1:NM_004948:exon9:c.T1075G:p.Y359D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.T1075G:p.Y359D;ENSG00000134765:ENST00000257198:exon9:c.T1075G:p.Y359D;	0.0208985653978091	0.188
18	28722147	A	G	18	31142184	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.T1075C:p.Y359H;DSC1:NM_004948:exon9:c.T1075C:p.Y359H;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.T1075C:p.Y359H;ENSG00000134765:ENST00000257198:exon9:c.T1075C:p.Y359H;	0.875504274972608	0.578
18	28722147	A	T	18	31142184	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon9:c.T1075A:p.Y359N;DSC1:NM_004948:exon9:c.T1075A:p.Y359N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon9:c.T1075A:p.Y359N;ENSG00000134765:ENST00000257198:exon9:c.T1075A:p.Y359N;	0.847787671463359	0.726
18	28722148	C	A	18	31142185	y	y	splicing	DSC1(NM_004948:exon10:c.1075-1G>T;NM_024421:exon10:c.1075-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1075-1G>T;ENST00000257197:exon10:c.1075-1G>T)	.	.	0.99998744913654	0.882
18	28722148	C	G	18	31142185	y	y	splicing	DSC1(NM_004948:exon10:c.1075-1G>C;NM_024421:exon10:c.1075-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1075-1G>C;ENST00000257197:exon10:c.1075-1G>C)	.	.	0.99997540754718	0.876
18	28722148	C	T	18	31142185	y	y	splicing	DSC1(NM_004948:exon10:c.1075-1G>A;NM_024421:exon10:c.1075-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1075-1G>A;ENST00000257197:exon10:c.1075-1G>A)	.	.	0.99998761664516	0.882
18	28722149	T	A	18	31142186	y	y	splicing	DSC1(NM_004948:exon10:c.1075-2A>T;NM_024421:exon10:c.1075-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1075-2A>T;ENST00000257197:exon10:c.1075-2A>T)	.	.	0.999891083642352	0.876
18	28722149	T	C	18	31142186	y	y	splicing	DSC1(NM_004948:exon10:c.1075-2A>G;NM_024421:exon10:c.1075-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1075-2A>G;ENST00000257197:exon10:c.1075-2A>G)	.	.	0.9998780249771	0.864
18	28722149	T	G	18	31142186	y	y	splicing	DSC1(NM_004948:exon10:c.1075-2A>C;NM_024421:exon10:c.1075-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon10:c.1075-2A>C;ENST00000257197:exon10:c.1075-2A>C)	.	.	0.9998780249771	0.864
18	28722150	G	A	18	31142187	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0402806359822866	0.37
18	28722150	G	C	18	31142187	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.987779427190769	0.758
18	28722150	G	T	18	31142187	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.962120346361862	0.774
18	28722151	A	C	18	31142188	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.48244467126597E-4	0.022
18	28722151	A	G	18	31142188	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.09098079119544E-4	0.046
18	28722151	A	T	18	31142188	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0031301129762242	0.086
18	28722152	A	C	18	31142189	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.489692279621289	0.56
18	28722152	A	G	18	31142189	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0112066994148717	0.212
18	28722152	A	T	18	31142189	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.423939684829817	0.562
18	28722153	A	C	18	31142190	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.981542092940012	0.71
18	28722153	A	G	18	31142190	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00240925545136789	0.086
18	28722153	A	T	18	31142190	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.981542092940012	0.73
18	28722154	G	A	18	31142191	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.14275422501547E-5	0.008
18	28722154	G	C	18	31142191	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00190780121200561	0.15
18	28722154	G	T	18	31142191	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00122118444955343	0.102
18	28722155	A	C	18	31142192	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.724330312448056	0.564
18	28722155	A	G	18	31142192	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.78353054550248E-4	0.084
18	28722155	A	T	18	31142192	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.751046883153752	0.578
18	28722156	A	C	18	31142193	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.996785004575643	0.926
18	28722156	A	G	18	31142193	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.17140704764734E-4	0.08
18	28722156	A	T	18	31142193	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0126865371547295	0.382
18	28722157	T	A	18	31142194	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.12045736040035E-5	0.012
18	28722157	T	C	18	31142194	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.885346525714798	0.864
18	28722157	T	G	18	31142194	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.08387233757793E-5	0.008
18	28722158	T	A	18	31142195	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.63661358283764E-4	0.184
18	28722158	T	C	18	31142195	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.04137290814158E-4	0.058
18	28722158	T	G	18	31142195	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.25858832527998E-4	0.044
18	28722159	G	A	18	31142196	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.73822774430519E-4	0.046
18	28722159	G	C	18	31142196	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00308770003514343	0.162
18	28722159	G	T	18	31142196	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00219641294660348	0.088
18	28723612	A	C	18	31143649	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.178539667303E-4	0.0
18	28723612	A	G	18	31143649	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.09603457098334E-4	0.002
18	28723612	A	T	18	31143649	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.52407824253367E-4	0.1
18	28723613	T	A	18	31143650	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.05767679931096E-4	0.122
18	28723613	T	C	18	31143650	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.693839195328E-4	0.004
18	28723613	T	G	18	31143650	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.4772881808145E-4	0.006
18	28723614	A	C	18	31143651	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.9980724006012	0.842
18	28723614	A	G	18	31143651	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.997782827503451	0.914
18	28723614	A	T	18	31143651	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999508274505499	0.808
18	28723615	C	A	18	31143652	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999950749885653	0.976
18	28723615	C	G	18	31143652	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999964667335701	0.97
18	28723615	C	T	18	31143652	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999950291575004	0.992
18	28723616	T	A	18	31143653	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999860605100396	0.934
18	28723616	T	C	18	31143653	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999758340356829	0.946
18	28723616	T	G	18	31143653	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99956280264222	0.936
18	28723617	C	A	18	31143654	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998579019317735	0.75
18	28723617	C	G	18	31143654	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.997789054990695	0.774
18	28723617	C	T	18	31143654	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.14726370501182E-4	0.0
18	28723618	A	C	18	31143655	y	y	splicing	DSC1(NM_004948:exon9:c.1074+2T>G;NM_024421:exon9:c.1074+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.1074+2T>G;ENST00000257197:exon9:c.1074+2T>G)	.	.	0.999988247793601	0.918
18	28723618	A	G	18	31143655	y	y	splicing	DSC1(NM_004948:exon9:c.1074+2T>C;NM_024421:exon9:c.1074+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.1074+2T>C;ENST00000257197:exon9:c.1074+2T>C)	.	.	0.999983530538551	0.946
18	28723618	A	T	18	31143655	y	y	splicing	DSC1(NM_004948:exon9:c.1074+2T>A;NM_024421:exon9:c.1074+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.1074+2T>A;ENST00000257197:exon9:c.1074+2T>A)	.	.	0.999988247793601	0.918
18	28723619	C	A	18	31143656	y	y	splicing	DSC1(NM_004948:exon9:c.1074+1G>T;NM_024421:exon9:c.1074+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.1074+1G>T;ENST00000257197:exon9:c.1074+1G>T)	.	.	0.999986675681007	0.922
18	28723619	C	G	18	31143656	y	y	splicing	DSC1(NM_004948:exon9:c.1074+1G>C;NM_024421:exon9:c.1074+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.1074+1G>C;ENST00000257197:exon9:c.1074+1G>C)	.	.	0.999986675681007	0.922
18	28723619	C	T	18	31143656	y	y	splicing	DSC1(NM_004948:exon9:c.1074+1G>A;NM_024421:exon9:c.1074+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.1074+1G>A;ENST00000257197:exon9:c.1074+1G>A)	.	.	0.999986675681007	0.924
18	28723620	A	C	18	31143657	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon8:c.T1074G:p.S358S;DSC1:NM_004948:exon8:c.T1074G:p.S358S;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.T1074G:p.S358S;ENSG00000134765:ENST00000257198:exon8:c.T1074G:p.S358S;	5.90027972290302E-4	0.036
18	28723620	A	G	18	31143657	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon8:c.T1074C:p.S358S;DSC1:NM_004948:exon8:c.T1074C:p.S358S;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.T1074C:p.S358S;ENSG00000134765:ENST00000257198:exon8:c.T1074C:p.S358S;	0.00295811668067399	0.382
18	28723620	A	T	18	31143657	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon8:c.T1074A:p.S358S;DSC1:NM_004948:exon8:c.T1074A:p.S358S;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.T1074A:p.S358S;ENSG00000134765:ENST00000257198:exon8:c.T1074A:p.S358S;	1.94083021652108E-4	0.002
18	28723621	G	A	18	31143658	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.C1073T:p.S358F;DSC1:NM_004948:exon8:c.C1073T:p.S358F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.C1073T:p.S358F;ENSG00000134765:ENST00000257198:exon8:c.C1073T:p.S358F;	0.0489537968230708	0.318
18	28723621	G	C	18	31143658	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.C1073G:p.S358C;DSC1:NM_004948:exon8:c.C1073G:p.S358C;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.C1073G:p.S358C;ENSG00000134765:ENST00000257198:exon8:c.C1073G:p.S358C;	0.0554282211648337	0.366
18	28723621	G	T	18	31143658	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.C1073A:p.S358Y;DSC1:NM_004948:exon8:c.C1073A:p.S358Y;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.C1073A:p.S358Y;ENSG00000134765:ENST00000257198:exon8:c.C1073A:p.S358Y;	0.0708383519081587	0.368
18	28723622	A	C	18	31143659	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.T1072G:p.S358A;DSC1:NM_004948:exon8:c.T1072G:p.S358A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.T1072G:p.S358A;ENSG00000134765:ENST00000257198:exon8:c.T1072G:p.S358A;	0.584602699836888	0.618
18	28723622	A	G	18	31143659	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.T1072C:p.S358P;DSC1:NM_004948:exon8:c.T1072C:p.S358P;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.T1072C:p.S358P;ENSG00000134765:ENST00000257198:exon8:c.T1072C:p.S358P;	0.581719680248856	0.444
18	28723622	A	T	18	31143659	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.T1072A:p.S358T;DSC1:NM_004948:exon8:c.T1072A:p.S358T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.T1072A:p.S358T;ENSG00000134765:ENST00000257198:exon8:c.T1072A:p.S358T;	0.104961837695247	0.242
18	28723753	T	A	18	31143790	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.A941T:p.K314I;DSC1:NM_004948:exon8:c.A941T:p.K314I;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.A941T:p.K314I;ENSG00000134765:ENST00000257198:exon8:c.A941T:p.K314I;	2.76444555092479E-5	0.002
18	28723753	T	C	18	31143790	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.A941G:p.K314R;DSC1:NM_004948:exon8:c.A941G:p.K314R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.A941G:p.K314R;ENSG00000134765:ENST00000257198:exon8:c.A941G:p.K314R;	4.02483837082699E-5	0.028
18	28723753	T	G	18	31143790	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.A941C:p.K314T;DSC1:NM_004948:exon8:c.A941C:p.K314T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.A941C:p.K314T;ENSG00000134765:ENST00000257198:exon8:c.A941C:p.K314T;	3.93887679999327E-5	0.0
18	28723754	T	A	18	31143791	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon8:c.A940T:p.K314X;DSC1:NM_004948:exon8:c.A940T:p.K314X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon8:c.A940T:p.K314X;ENSG00000134765:ENST00000257198:exon8:c.A940T:p.K314X;	5.55144688087449E-5	0.268
18	28723754	T	C	18	31143791	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.A940G:p.K314E;DSC1:NM_004948:exon8:c.A940G:p.K314E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.A940G:p.K314E;ENSG00000134765:ENST00000257198:exon8:c.A940G:p.K314E;	1.7634072299745E-5	0.0
18	28723754	T	G	18	31143791	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon8:c.A940C:p.K314Q;DSC1:NM_004948:exon8:c.A940C:p.K314Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon8:c.A940C:p.K314Q;ENSG00000134765:ENST00000257198:exon8:c.A940C:p.K314Q;	6.78313161499195E-5	0.012
18	28723755	C	A	18	31143792	y	y	splicing	DSC1(NM_004948:exon9:c.940-1G>T;NM_024421:exon9:c.940-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.940-1G>T;ENST00000257197:exon9:c.940-1G>T)	.	.	0.999986675681007	0.92
18	28723755	C	G	18	31143792	y	y	splicing	DSC1(NM_004948:exon9:c.940-1G>C;NM_024421:exon9:c.940-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.940-1G>C;ENST00000257197:exon9:c.940-1G>C)	.	.	0.999986675681007	0.932
18	28723755	C	T	18	31143792	y	y	splicing	DSC1(NM_004948:exon9:c.940-1G>A;NM_024421:exon9:c.940-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.940-1G>A;ENST00000257197:exon9:c.940-1G>A)	.	.	0.999986675681007	0.93
18	28723756	T	A	18	31143793	y	y	splicing	DSC1(NM_004948:exon9:c.940-2A>T;NM_024421:exon9:c.940-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.940-2A>T;ENST00000257197:exon9:c.940-2A>T)	.	.	0.999988247793601	0.926
18	28723756	T	C	18	31143793	y	y	splicing	DSC1(NM_004948:exon9:c.940-2A>G;NM_024421:exon9:c.940-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.940-2A>G;ENST00000257197:exon9:c.940-2A>G)	.	.	0.999988247793601	0.926
18	28723756	T	G	18	31143793	y	y	splicing	DSC1(NM_004948:exon9:c.940-2A>C;NM_024421:exon9:c.940-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon9:c.940-2A>C;ENST00000257197:exon9:c.940-2A>C)	.	.	0.999988247793601	0.926
18	28723757	G	A	18	31143794	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0444311582822885	0.242
18	28723757	G	C	18	31143794	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999885551009769	0.962
18	28723757	G	T	18	31143794	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.811277491214788	0.532
18	28723758	A	C	18	31143795	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.10936722561667E-5	0.0
18	28723758	A	G	18	31143795	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.79948868970772E-4	0.024
18	28723758	A	T	18	31143795	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.0871649555394E-4	0.024
18	28723759	A	C	18	31143796	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0340449025657652	0.322
18	28723759	A	G	18	31143796	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00110388068429487	0.028
18	28723759	A	T	18	31143796	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00721916487194194	0.276
18	28723760	A	C	18	31143797	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0011731767931781	0.142
18	28723760	A	G	18	31143797	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.08386506081984E-4	0.006
18	28723760	A	T	18	31143797	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00111606139222856	0.074
18	28723761	A	C	18	31143798	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.25805446028483E-4	0.118
18	28723761	A	G	18	31143798	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.01959365377923E-5	0.002
18	28723761	A	T	18	31143798	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.54809494515633E-4	0.082
18	28723762	A	C	18	31143799	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00159029065520862	0.058
18	28723762	A	G	18	31143799	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.71814200885421E-4	0.024
18	28723762	A	T	18	31143799	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00450340719162095	0.102
18	28723763	A	C	18	31143800	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00120587188020841	0.144
18	28723763	A	G	18	31143800	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.71369344352331E-4	0.07
18	28723763	A	T	18	31143800	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00116664725764081	0.142
18	28723764	A	C	18	31143801	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.65503784285421E-4	0.16
18	28723764	A	G	18	31143801	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00110876848012929	0.02
18	28723764	A	T	18	31143801	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00256817090282272	0.164
18	28723765	G	A	18	31143802	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.26278840914138E-5	0.004
18	28723765	G	C	18	31143802	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.0804617770359E-5	0.006
18	28723765	G	T	18	31143802	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.18059442344162E-5	0.006
18	28723766	G	A	18	31143803	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.66127627827467E-5	0.004
18	28723766	G	C	18	31143803	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.41993601560479E-5	0.002
18	28723766	G	T	18	31143803	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.58804074271914E-5	0.016
18	28725566	A	C	18	31145603	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.26168333078618E-4	0.042
18	28725566	A	G	18	31145603	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.26168333078618E-4	0.042
18	28725566	A	T	18	31145603	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.20146855183656E-4	0.014
18	28725567	T	A	18	31145604	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00115406243598001	0.13
18	28725567	T	C	18	31145604	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.62708412840163E-4	0.076
18	28725567	T	G	18	31145604	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.62708412840163E-4	0.042
18	28725568	C	A	18	31145605	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.89543501863494E-4	0.054
18	28725568	C	G	18	31145605	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0335384660971054	0.146
18	28725568	C	T	18	31145605	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0212776933208877	0.15
18	28725569	A	C	18	31145606	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.1793641597284E-4	0.018
18	28725569	A	G	18	31145606	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.45098774980574E-5	0.07
18	28725569	A	T	18	31145606	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.28136515730939E-4	0.102
18	28725570	T	A	18	31145607	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99979695783899	0.844
18	28725570	T	C	18	31145607	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999721123372034	0.87
18	28725570	T	G	18	31145607	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999937193788413	0.858
18	28725571	T	A	18	31145608	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99995998535691	0.916
18	28725571	T	C	18	31145608	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998451369071669	0.802
18	28725571	T	G	18	31145608	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999958589593698	0.898
18	28725572	A	C	18	31145609	y	y	splicing	DSC1(NM_004948:exon8:c.939+2T>G;NM_024421:exon8:c.939+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.939+2T>G;ENST00000257197:exon8:c.939+2T>G)	.	.	0.999962285919763	0.88
18	28725572	A	G	18	31145609	y	y	splicing	DSC1(NM_004948:exon8:c.939+2T>C;NM_024421:exon8:c.939+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.939+2T>C;ENST00000257197:exon8:c.939+2T>C)	.	.	0.981967616670495	0.642
18	28725572	A	T	18	31145609	y	y	splicing	DSC1(NM_004948:exon8:c.939+2T>A;NM_024421:exon8:c.939+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.939+2T>A;ENST00000257197:exon8:c.939+2T>A)	.	.	0.999962285919763	0.882
18	28725573	C	A	18	31145610	y	y	splicing	DSC1(NM_004948:exon8:c.939+1G>T;NM_024421:exon8:c.939+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.939+1G>T;ENST00000257197:exon8:c.939+1G>T)	.	.	0.999985312293731	0.882
18	28725573	C	G	18	31145610	y	y	splicing	DSC1(NM_004948:exon8:c.939+1G>C;NM_024421:exon8:c.939+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.939+1G>C;ENST00000257197:exon8:c.939+1G>C)	.	.	0.999985312293731	0.882
18	28725573	C	T	18	31145610	y	y	splicing	DSC1(NM_004948:exon8:c.939+1G>A;NM_024421:exon8:c.939+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.939+1G>A;ENST00000257197:exon8:c.939+1G>A)	.	.	0.999985312293731	0.882
18	28725574	T	A	18	31145611	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.A939T:p.E313D;DSC1:NM_004948:exon7:c.A939T:p.E313D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A939T:p.E313D;ENSG00000134765:ENST00000257198:exon7:c.A939T:p.E313D;	0.698914893212144	0.304
18	28725574	T	C	18	31145611	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon7:c.A939G:p.E313E;DSC1:NM_004948:exon7:c.A939G:p.E313E;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A939G:p.E313E;ENSG00000134765:ENST00000257198:exon7:c.A939G:p.E313E;	0.00511470864414872	0.056
18	28725574	T	G	18	31145611	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.A939C:p.E313D;DSC1:NM_004948:exon7:c.A939C:p.E313D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A939C:p.E313D;ENSG00000134765:ENST00000257198:exon7:c.A939C:p.E313D;	0.0268290010432947	0.428
18	28725575	T	A	18	31145612	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.A938T:p.E313V;DSC1:NM_004948:exon7:c.A938T:p.E313V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A938T:p.E313V;ENSG00000134765:ENST00000257198:exon7:c.A938T:p.E313V;	0.999678572625749	0.934
18	28725575	T	C	18	31145612	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.A938G:p.E313G;DSC1:NM_004948:exon7:c.A938G:p.E313G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A938G:p.E313G;ENSG00000134765:ENST00000257198:exon7:c.A938G:p.E313G;	0.9994604267105	0.946
18	28725575	T	G	18	31145612	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.A938C:p.E313A;DSC1:NM_004948:exon7:c.A938C:p.E313A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A938C:p.E313A;ENSG00000134765:ENST00000257198:exon7:c.A938C:p.E313A;	0.999678572625749	0.946
18	28725576	C	A	18	31145613	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon7:c.G937T:p.E313X;DSC1:NM_004948:exon7:c.G937T:p.E313X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon7:c.G937T:p.E313X;ENSG00000134765:ENST00000257198:exon7:c.G937T:p.E313X;	0.981826683004294	0.64
18	28725576	C	G	18	31145613	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.G937C:p.E313Q;DSC1:NM_004948:exon7:c.G937C:p.E313Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.G937C:p.E313Q;ENSG00000134765:ENST00000257198:exon7:c.G937C:p.E313Q;	0.930945805982742	0.698
18	28725576	C	T	18	31145613	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.G937A:p.E313K;DSC1:NM_004948:exon7:c.G937A:p.E313K;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.G937A:p.E313K;ENSG00000134765:ENST00000257198:exon7:c.G937A:p.E313K;	0.920875644949665	0.72
18	28725739	T	A	18	31145776	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon7:c.A774T:p.G258G;DSC1:NM_004948:exon7:c.A774T:p.G258G;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A774T:p.G258G;ENSG00000134765:ENST00000257198:exon7:c.A774T:p.G258G;	3.34576408793391E-5	0.0
18	28725739	T	C	18	31145776	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon7:c.A774G:p.G258G;DSC1:NM_004948:exon7:c.A774G:p.G258G;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A774G:p.G258G;ENSG00000134765:ENST00000257198:exon7:c.A774G:p.G258G;	8.00991135646414E-5	0.012
18	28725739	T	G	18	31145776	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon7:c.A774C:p.G258G;DSC1:NM_004948:exon7:c.A774C:p.G258G;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.A774C:p.G258G;ENSG00000134765:ENST00000257198:exon7:c.A774C:p.G258G;	1.82587496089936E-4	0.01
18	28725740	C	A	18	31145777	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.G773T:p.G258V;DSC1:NM_004948:exon7:c.G773T:p.G258V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.G773T:p.G258V;ENSG00000134765:ENST00000257198:exon7:c.G773T:p.G258V;	0.999835914101774	0.988
18	28725740	C	G	18	31145777	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.G773C:p.G258A;DSC1:NM_004948:exon7:c.G773C:p.G258A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.G773C:p.G258A;ENSG00000134765:ENST00000257198:exon7:c.G773C:p.G258A;	0.999703604007015	0.972
18	28725740	C	T	18	31145777	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon7:c.G773A:p.G258E;DSC1:NM_004948:exon7:c.G773A:p.G258E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon7:c.G773A:p.G258E;ENSG00000134765:ENST00000257198:exon7:c.G773A:p.G258E;	0.999597420222129	0.91
18	28725741	C	A	18	31145778	y	y	splicing	DSC1(NM_004948:exon8:c.773-1G>T;NM_024421:exon8:c.773-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.773-1G>T;ENST00000257197:exon8:c.773-1G>T)	.	.	0.999990764389106	0.934
18	28725741	C	G	18	31145778	y	y	splicing	DSC1(NM_004948:exon8:c.773-1G>C;NM_024421:exon8:c.773-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.773-1G>C;ENST00000257197:exon8:c.773-1G>C)	.	.	0.999990764389106	0.934
18	28725741	C	T	18	31145778	y	y	splicing	DSC1(NM_004948:exon8:c.773-1G>A;NM_024421:exon8:c.773-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.773-1G>A;ENST00000257197:exon8:c.773-1G>A)	.	.	0.999990764389106	0.934
18	28725742	T	A	18	31145779	y	y	splicing	DSC1(NM_004948:exon8:c.773-2A>T;NM_024421:exon8:c.773-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.773-2A>T;ENST00000257197:exon8:c.773-2A>T)	.	.	0.999994907583848	0.928
18	28725742	T	C	18	31145779	y	y	splicing	DSC1(NM_004948:exon8:c.773-2A>G;NM_024421:exon8:c.773-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.773-2A>G;ENST00000257197:exon8:c.773-2A>G)	.	.	0.999993384937023	0.926
18	28725742	T	G	18	31145779	y	y	splicing	DSC1(NM_004948:exon8:c.773-2A>C;NM_024421:exon8:c.773-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon8:c.773-2A>C;ENST00000257197:exon8:c.773-2A>C)	.	.	0.999993384937023	0.926
18	28725743	G	A	18	31145780	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00198970698507572	0.112
18	28725743	G	C	18	31145780	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999169540970341	0.734
18	28725743	G	T	18	31145780	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.714664462840226	0.648
18	28725744	T	A	18	31145781	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00644022617106994	0.088
18	28725744	T	C	18	31145781	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.993351723041744	0.788
18	28725744	T	G	18	31145781	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00173061839258079	0.036
18	28725745	T	A	18	31145782	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.40494444906163E-4	0.026
18	28725745	T	C	18	31145782	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998466463175696	0.99
18	28725745	T	G	18	31145782	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.16286356665735E-4	0.01
18	28725746	T	A	18	31145783	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.58645906776164E-5	0.0
18	28725746	T	C	18	31145783	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.46849139027227E-5	0.01
18	28725746	T	G	18	31145783	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.67944982512943E-5	0.0
18	28725747	A	C	18	31145784	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0602116053336721	0.334
18	28725747	A	G	18	31145784	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.93292373450329E-4	0.058
18	28725747	A	T	18	31145784	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.18655763358893	0.426
18	28725748	G	A	18	31145785	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.76481837859806E-5	0.008
18	28725748	G	C	18	31145785	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00136388024743768	0.09
18	28725748	G	T	18	31145785	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00153026016510539	0.146
18	28725749	A	C	18	31145786	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999911757024585	0.974
18	28725749	A	G	18	31145786	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.87306225537994E-4	0.056
18	28725749	A	T	18	31145786	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.294383725919668	0.488
18	28725750	T	A	18	31145787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.97769277305195E-5	0.0
18	28725750	T	C	18	31145787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.70603963625325E-5	0.004
18	28725750	T	G	18	31145787	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.97769277305195E-5	0.0
18	28725751	A	C	18	31145788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.636679830556045	0.56
18	28725751	A	G	18	31145788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.408527340521718	0.31
18	28725751	A	T	18	31145788	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.922362966452074	0.624
18	28725752	A	C	18	31145789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.380816775027844	0.544
18	28725752	A	G	18	31145789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00351076279458526	0.132
18	28725752	A	T	18	31145789	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.444338111819683	0.486
18	28728453	G	A	18	31148490	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.36567682305367E-5	0.0
18	28728453	G	C	18	31148490	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.39391423956783E-5	0.004
18	28728453	G	T	18	31148490	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.36567682305367E-5	0.0
18	28728454	A	C	18	31148491	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.22025199828459E-4	0.0
18	28728454	A	G	18	31148491	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.22025199828459E-4	0.0
18	28728454	A	T	18	31148491	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.99768378248926E-4	0.002
18	28728455	A	C	18	31148492	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00220183409061941	0.144
18	28728455	A	G	18	31148492	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0611619559600713	0.334
18	28728455	A	T	18	31148492	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0120651178091275	0.218
18	28728456	C	A	18	31148493	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998803067957449	0.894
18	28728456	C	G	18	31148493	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.992578229020145	0.88
18	28728456	C	T	18	31148493	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.978867350139324	0.822
18	28728457	T	A	18	31148494	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0283220661808977	0.318
18	28728457	T	C	18	31148494	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0703168859583547	0.354
18	28728457	T	G	18	31148494	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0166909691076289	0.27
18	28728458	T	A	18	31148495	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.885015663611019	0.55
18	28728458	T	C	18	31148495	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.64791325930959E-4	0.052
18	28728458	T	G	18	31148495	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.646142641099949	0.594
18	28728459	A	C	18	31148496	y	y	splicing	DSC1(NM_004948:exon7:c.772+2T>G;NM_024421:exon7:c.772+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.772+2T>G;ENST00000257197:exon7:c.772+2T>G)	.	.	0.999966203349492	0.944
18	28728459	A	G	18	31148496	y	y	splicing	DSC1(NM_004948:exon7:c.772+2T>C;NM_024421:exon7:c.772+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.772+2T>C;ENST00000257197:exon7:c.772+2T>C)	.	.	0.963948796191809	0.636
18	28728459	A	T	18	31148496	y	y	splicing	DSC1(NM_004948:exon7:c.772+2T>A;NM_024421:exon7:c.772+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.772+2T>A;ENST00000257197:exon7:c.772+2T>A)	.	.	0.999966203349492	0.94
18	28728460	C	A	18	31148497	y	y	splicing	DSC1(NM_004948:exon7:c.772+1G>T;NM_024421:exon7:c.772+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.772+1G>T;ENST00000257197:exon7:c.772+1G>T)	.	.	0.999946088315598	0.876
18	28728460	C	G	18	31148497	y	y	splicing	DSC1(NM_004948:exon7:c.772+1G>C;NM_024421:exon7:c.772+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.772+1G>C;ENST00000257197:exon7:c.772+1G>C)	.	.	0.999940475385113	0.874
18	28728460	C	T	18	31148497	y	y	splicing	DSC1(NM_004948:exon7:c.772+1G>A;NM_024421:exon7:c.772+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.772+1G>A;ENST00000257197:exon7:c.772+1G>A)	.	.	0.999946088315598	0.86
18	28728461	C	A	18	31148498	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon6:c.G772T:p.G258X;DSC1:NM_004948:exon6:c.G772T:p.G258X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon6:c.G772T:p.G258X;ENSG00000134765:ENST00000257198:exon6:c.G772T:p.G258X;	0.999687958180074	0.944
18	28728461	C	G	18	31148498	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon6:c.G772C:p.G258R;DSC1:NM_004948:exon6:c.G772C:p.G258R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.G772C:p.G258R;ENSG00000134765:ENST00000257198:exon6:c.G772C:p.G258R;	0.999860265220327	0.924
18	28728461	C	T	18	31148498	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon6:c.G772A:p.G258R;DSC1:NM_004948:exon6:c.G772A:p.G258R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.G772A:p.G258R;ENSG00000134765:ENST00000257198:exon6:c.G772A:p.G258R;	0.998875897385208	0.864
18	28728462	G	A	18	31148499	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon6:c.C771T:p.S257S;DSC1:NM_004948:exon6:c.C771T:p.S257S;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.C771T:p.S257S;ENSG00000134765:ENST00000257198:exon6:c.C771T:p.S257S;	8.25471816473903E-5	0.162
18	28728462	G	C	18	31148499	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon6:c.C771G:p.S257S;DSC1:NM_004948:exon6:c.C771G:p.S257S;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.C771G:p.S257S;ENSG00000134765:ENST00000257198:exon6:c.C771G:p.S257S;	1.61422300427257E-4	0.13
18	28728462	G	T	18	31148499	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon6:c.C771A:p.S257S;DSC1:NM_004948:exon6:c.C771A:p.S257S;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.C771A:p.S257S;ENSG00000134765:ENST00000257198:exon6:c.C771A:p.S257S;	1.06990645767526E-4	0.222
18	28728463	G	A	18	31148500	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon6:c.C770T:p.S257F;DSC1:NM_004948:exon6:c.C770T:p.S257F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.C770T:p.S257F;ENSG00000134765:ENST00000257198:exon6:c.C770T:p.S257F;	4.51879907601199E-5	0.02
18	28728463	G	C	18	31148500	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon6:c.C770G:p.S257C;DSC1:NM_004948:exon6:c.C770G:p.S257C;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.C770G:p.S257C;ENSG00000134765:ENST00000257198:exon6:c.C770G:p.S257C;	4.15002891255671E-5	0.008
18	28728463	G	T	18	31148500	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon6:c.C770A:p.S257Y;DSC1:NM_004948:exon6:c.C770A:p.S257Y;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.C770A:p.S257Y;ENSG00000134765:ENST00000257198:exon6:c.C770A:p.S257Y;	1.27452491768628E-5	0.01
18	28728604	A	C	18	31148641	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon6:c.T629G:p.L210X;DSC1:NM_004948:exon6:c.T629G:p.L210X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon6:c.T629G:p.L210X;ENSG00000134765:ENST00000257198:exon6:c.T629G:p.L210X;	0.262496298739262	0.648
18	28728604	A	G	18	31148641	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon6:c.T629C:p.L210S;DSC1:NM_004948:exon6:c.T629C:p.L210S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.T629C:p.L210S;ENSG00000134765:ENST00000257198:exon6:c.T629C:p.L210S;	0.208809016658307	0.386
18	28728604	A	T	18	31148641	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon6:c.T629A:p.L210X;DSC1:NM_004948:exon6:c.T629A:p.L210X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon6:c.T629A:p.L210X;ENSG00000134765:ENST00000257198:exon6:c.T629A:p.L210X;	0.254453225814413	0.64
18	28728605	A	C	18	31148642	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon6:c.T628G:p.L210V;DSC1:NM_004948:exon6:c.T628G:p.L210V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.T628G:p.L210V;ENSG00000134765:ENST00000257198:exon6:c.T628G:p.L210V;	1.66382062175547E-4	0.084
18	28728605	A	G	18	31148642	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon6:c.T628C:p.L210L;DSC1:NM_004948:exon6:c.T628C:p.L210L;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.T628C:p.L210L;ENSG00000134765:ENST00000257198:exon6:c.T628C:p.L210L;	5.10946988591405E-5	0.008
18	28728605	A	T	18	31148642	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon6:c.T628A:p.L210I;DSC1:NM_004948:exon6:c.T628A:p.L210I;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon6:c.T628A:p.L210I;ENSG00000134765:ENST00000257198:exon6:c.T628A:p.L210I;	8.14999275805648E-5	0.0
18	28728606	C	A	18	31148643	y	y	splicing	DSC1(NM_004948:exon7:c.628-1G>T;NM_024421:exon7:c.628-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.628-1G>T;ENST00000257197:exon7:c.628-1G>T)	.	.	0.999916487880886	0.956
18	28728606	C	G	18	31148643	y	y	splicing	DSC1(NM_004948:exon7:c.628-1G>C;NM_024421:exon7:c.628-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.628-1G>C;ENST00000257197:exon7:c.628-1G>C)	.	.	0.999916487880886	0.948
18	28728606	C	T	18	31148643	y	y	splicing	DSC1(NM_004948:exon7:c.628-1G>A;NM_024421:exon7:c.628-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.628-1G>A;ENST00000257197:exon7:c.628-1G>A)	.	.	0.999916487880886	0.958
18	28728607	T	A	18	31148644	y	y	splicing	DSC1(NM_004948:exon7:c.628-2A>T;NM_024421:exon7:c.628-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.628-2A>T;ENST00000257197:exon7:c.628-2A>T)	.	.	0.999966514958823	0.94
18	28728607	T	C	18	31148644	y	y	splicing	DSC1(NM_004948:exon7:c.628-2A>G;NM_024421:exon7:c.628-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.628-2A>G;ENST00000257197:exon7:c.628-2A>G)	.	.	0.999966514958823	0.934
18	28728607	T	G	18	31148644	y	y	splicing	DSC1(NM_004948:exon7:c.628-2A>C;NM_024421:exon7:c.628-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon7:c.628-2A>C;ENST00000257197:exon7:c.628-2A>C)	.	.	0.999966514958823	0.934
18	28728608	G	A	18	31148645	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0104096254393714	0.184
18	28728608	G	C	18	31148645	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999712945718657	0.956
18	28728608	G	T	18	31148645	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.742565511955984	0.626
18	28728609	A	C	18	31148646	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.40875241833821E-4	0.008
18	28728609	A	G	18	31148646	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.48839893710873E-4	0.004
18	28728609	A	T	18	31148646	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.37705754677936E-4	0.002
18	28728610	A	C	18	31148647	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0190904899831648	0.438
18	28728610	A	G	18	31148647	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.035956333386954	0.148
18	28728610	A	T	18	31148647	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0303282347297881	0.43
18	28728611	A	C	18	31148648	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00783793185329881	0.166
18	28728611	A	G	18	31148648	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.07845196053001E-5	0.008
18	28728611	A	T	18	31148648	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.99875644244945E-4	0.138
18	28728612	G	A	18	31148649	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.76313628865697E-5	0.0
18	28728612	G	C	18	31148649	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.95894665889347E-5	0.02
18	28728612	G	T	18	31148649	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.5054619310137E-4	0.136
18	28728613	A	C	18	31148650	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.09049643775491E-4	0.026
18	28728613	A	G	18	31148650	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.32533013224698E-5	0.004
18	28728613	A	T	18	31148650	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.47753045294059E-4	0.008
18	28728614	A	C	18	31148651	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.31346540839052E-4	0.088
18	28728614	A	G	18	31148651	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.00054361696854E-5	0.0
18	28728614	A	T	18	31148651	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.12397512369195E-4	0.104
18	28728615	G	A	18	31148652	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.60099876580766E-5	0.0
18	28728615	G	C	18	31148652	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.4080541959635E-5	0.01
18	28728615	G	T	18	31148652	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.20012092012912E-5	0.024
18	28728616	G	A	18	31148653	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.26749103011622E-5	0.0
18	28728616	G	C	18	31148653	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.96528102456792E-4	0.062
18	28728616	G	T	18	31148653	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.57943696776327E-4	0.038
18	28728617	G	A	18	31148654	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.92421305481026E-5	0.0
18	28728617	G	C	18	31148654	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.02696165130162E-4	0.014
18	28728617	G	T	18	31148654	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.88468665039994E-4	0.024
18	28734729	A	C	18	31154766	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.65593307633857E-4	0.002
18	28734729	A	G	18	31154766	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.65263237523054E-4	0.0
18	28734729	A	T	18	31154766	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.07063237573082E-4	0.03
18	28734730	A	C	18	31154767	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.87710201030456E-5	0.0
18	28734730	A	G	18	31154767	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.47905990036545E-5	0.0
18	28734730	A	T	18	31154767	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.12582598235764E-5	0.0
18	28734731	T	A	18	31154768	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00176507666783631	0.064
18	28734731	T	C	18	31154768	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00662992893491834	0.076
18	28734731	T	G	18	31154768	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0216970913609464	0.186
18	28734732	C	A	18	31154769	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999965445723985	0.986
18	28734732	C	G	18	31154769	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999990003591074	0.976
18	28734732	C	T	18	31154769	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999975523217202	0.996
18	28734733	C	A	18	31154770	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.26735692831268E-5	0.026
18	28734733	C	G	18	31154770	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.96485198987309E-5	0.066
18	28734733	C	T	18	31154770	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.22403008086491E-4	0.07
18	28734734	T	A	18	31154771	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999807506709451	0.922
18	28734734	T	C	18	31154771	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.959057771991725	0.772
18	28734734	T	G	18	31154771	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999813234404327	0.924
18	28734735	A	C	18	31154772	y	y	splicing	DSC1(NM_004948:exon6:c.627+2T>G;NM_024421:exon6:c.627+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.627+2T>G;ENST00000257197:exon6:c.627+2T>G)	.	.	0.99993872479901	0.942
18	28734735	A	G	18	31154772	y	y	splicing	DSC1(NM_004948:exon6:c.627+2T>C;NM_024421:exon6:c.627+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.627+2T>C;ENST00000257197:exon6:c.627+2T>C)	.	.	0.999424455655799	0.926
18	28734735	A	T	18	31154772	y	y	splicing	DSC1(NM_004948:exon6:c.627+2T>A;NM_024421:exon6:c.627+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.627+2T>A;ENST00000257197:exon6:c.627+2T>A)	.	.	0.99993872479901	0.928
18	28734736	C	A	18	31154773	y	y	splicing	DSC1(NM_004948:exon6:c.627+1G>T;NM_024421:exon6:c.627+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.627+1G>T;ENST00000257197:exon6:c.627+1G>T)	.	.	0.999930528371628	0.936
18	28734736	C	G	18	31154773	y	y	splicing	DSC1(NM_004948:exon6:c.627+1G>C;NM_024421:exon6:c.627+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.627+1G>C;ENST00000257197:exon6:c.627+1G>C)	.	.	0.999930528371628	0.944
18	28734736	C	T	18	31154773	y	y	splicing	DSC1(NM_004948:exon6:c.627+1G>A;NM_024421:exon6:c.627+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.627+1G>A;ENST00000257197:exon6:c.627+1G>A)	.	.	0.999930528371628	0.928
18	28734737	C	A	18	31154774	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon5:c.G627T:p.A209A;DSC1:NM_004948:exon5:c.G627T:p.A209A;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.G627T:p.A209A;ENSG00000134765:ENST00000257198:exon5:c.G627T:p.A209A;	0.999948354080711	0.99
18	28734737	C	G	18	31154774	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon5:c.G627C:p.A209A;DSC1:NM_004948:exon5:c.G627C:p.A209A;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.G627C:p.A209A;ENSG00000134765:ENST00000257198:exon5:c.G627C:p.A209A;	0.999978102250698	0.992
18	28734737	C	T	18	31154774	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon5:c.G627A:p.A209A;DSC1:NM_004948:exon5:c.G627A:p.A209A;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.G627A:p.A209A;ENSG00000134765:ENST00000257198:exon5:c.G627A:p.A209A;	0.999993143057262	0.988
18	28734738	G	A	18	31154775	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.C626T:p.A209V;DSC1:NM_004948:exon5:c.C626T:p.A209V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.C626T:p.A209V;ENSG00000134765:ENST00000257198:exon5:c.C626T:p.A209V;	0.00383286515063328	0.064
18	28734738	G	C	18	31154775	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.C626G:p.A209G;DSC1:NM_004948:exon5:c.C626G:p.A209G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.C626G:p.A209G;ENSG00000134765:ENST00000257198:exon5:c.C626G:p.A209G;	0.0236775744290763	0.082
18	28734738	G	T	18	31154775	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.C626A:p.A209E;DSC1:NM_004948:exon5:c.C626A:p.A209E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.C626A:p.A209E;ENSG00000134765:ENST00000257198:exon5:c.C626A:p.A209E;	1.38859269775395E-4	0.048
18	28734739	C	A	18	31154776	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.G625T:p.A209S;DSC1:NM_004948:exon5:c.G625T:p.A209S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.G625T:p.A209S;ENSG00000134765:ENST00000257198:exon5:c.G625T:p.A209S;	0.00184317970751038	0.172
18	28734739	C	G	18	31154776	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.G625C:p.A209P;DSC1:NM_004948:exon5:c.G625C:p.A209P;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.G625C:p.A209P;ENSG00000134765:ENST00000257198:exon5:c.G625C:p.A209P;	1.76870376101231E-5	0.126
18	28734739	C	T	18	31154776	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.G625A:p.A209T;DSC1:NM_004948:exon5:c.G625A:p.A209T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.G625A:p.A209T;ENSG00000134765:ENST00000257198:exon5:c.G625A:p.A209T;	2.91226961070856E-5	0.118
18	28734891	A	C	18	31154928	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.T473G:p.I158S;DSC1:NM_004948:exon5:c.T473G:p.I158S;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.T473G:p.I158S;ENSG00000134765:ENST00000257198:exon5:c.T473G:p.I158S;	0.56510303394264	0.324
18	28734891	A	G	18	31154928	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.T473C:p.I158T;DSC1:NM_004948:exon5:c.T473C:p.I158T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.T473C:p.I158T;ENSG00000134765:ENST00000257198:exon5:c.T473C:p.I158T;	0.357969434437844	0.318
18	28734891	A	T	18	31154928	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.T473A:p.I158N;DSC1:NM_004948:exon5:c.T473A:p.I158N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.T473A:p.I158N;ENSG00000134765:ENST00000257198:exon5:c.T473A:p.I158N;	0.533705090174388	0.37
18	28734892	T	A	18	31154929	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.A472T:p.I158F;DSC1:NM_004948:exon5:c.A472T:p.I158F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.A472T:p.I158F;ENSG00000134765:ENST00000257198:exon5:c.A472T:p.I158F;	0.125415959138405	0.374
18	28734892	T	C	18	31154929	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.A472G:p.I158V;DSC1:NM_004948:exon5:c.A472G:p.I158V;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.A472G:p.I158V;ENSG00000134765:ENST00000257198:exon5:c.A472G:p.I158V;	1.42471418889449E-4	0.004
18	28734892	T	G	18	31154929	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon5:c.A472C:p.I158L;DSC1:NM_004948:exon5:c.A472C:p.I158L;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon5:c.A472C:p.I158L;ENSG00000134765:ENST00000257198:exon5:c.A472C:p.I158L;	0.130803996484858	0.28
18	28734893	C	A	18	31154930	y	y	splicing	DSC1(NM_004948:exon6:c.472-1G>T;NM_024421:exon6:c.472-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.472-1G>T;ENST00000257197:exon6:c.472-1G>T)	.	.	0.999984967332678	0.938
18	28734893	C	G	18	31154930	y	y	splicing	DSC1(NM_004948:exon6:c.472-1G>C;NM_024421:exon6:c.472-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.472-1G>C;ENST00000257197:exon6:c.472-1G>C)	.	.	0.999984967332678	0.938
18	28734893	C	T	18	31154930	y	y	splicing	DSC1(NM_004948:exon6:c.472-1G>A;NM_024421:exon6:c.472-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.472-1G>A;ENST00000257197:exon6:c.472-1G>A)	.	.	0.999984967332678	0.938
18	28734894	T	A	18	31154931	y	y	splicing	DSC1(NM_004948:exon6:c.472-2A>T;NM_024421:exon6:c.472-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.472-2A>T;ENST00000257197:exon6:c.472-2A>T)	.	.	0.999986741007567	0.928
18	28734894	T	C	18	31154931	y	y	splicing	DSC1(NM_004948:exon6:c.472-2A>G;NM_024421:exon6:c.472-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.472-2A>G;ENST00000257197:exon6:c.472-2A>G)	.	.	0.999986741007567	0.93
18	28734894	T	G	18	31154931	y	y	splicing	DSC1(NM_004948:exon6:c.472-2A>C;NM_024421:exon6:c.472-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon6:c.472-2A>C;ENST00000257197:exon6:c.472-2A>C)	.	.	0.999986741007567	0.93
18	28734895	G	A	18	31154932	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.61980124949646E-4	0.056
18	28734895	G	C	18	31154932	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.996348386074327	0.712
18	28734895	G	T	18	31154932	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.761752548748598	0.528
18	28734896	C	A	18	31154933	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.39401297230727E-5	0.006
18	28734896	C	G	18	31154933	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.19656905587313E-5	0.016
18	28734896	C	T	18	31154933	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.688608376732E-5	0.026
18	28734897	A	C	18	31154934	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.948169790730053	0.868
18	28734897	A	G	18	31154934	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.042303424920289	0.218
18	28734897	A	T	18	31154934	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998923814084392	0.954
18	28734898	G	A	18	31154935	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.81672805647862E-5	0.106
18	28734898	G	C	18	31154935	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999957226899173	0.97
18	28734898	G	T	18	31154935	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00184213910114484	0.302
18	28734899	T	A	18	31154936	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.89638834748964E-5	0.0
18	28734899	T	C	18	31154936	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.72836023667802E-4	0.016
18	28734899	T	G	18	31154936	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.63367492020142E-5	0.0
18	28734900	A	C	18	31154937	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.348475192639693	0.368
18	28734900	A	G	18	31154937	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.82773918822087E-5	0.016
18	28734900	A	T	18	31154937	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.253499713201976	0.318
18	28734901	A	C	18	31154938	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99995542250793	0.974
18	28734901	A	G	18	31154938	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.73764879740073E-4	0.072
18	28734901	A	T	18	31154938	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.719484237764011	0.518
18	28734902	T	A	18	31154939	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.67597530167608E-5	0.018
18	28734902	T	C	18	31154939	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.06717733893729E-4	0.064
18	28734902	T	G	18	31154939	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.0208761446232E-5	0.016
18	28734903	A	C	18	31154940	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.996120131823627	0.862
18	28734903	A	G	18	31154940	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.154900863289862	0.246
18	28734903	A	T	18	31154940	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.995137826797397	0.854
18	28734904	A	C	18	31154941	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999953193769501	0.976
18	28734904	A	G	18	31154941	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00765628104893691	0.108
18	28734904	A	T	18	31154941	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.94975754695248	0.684
18	28735998	A	C	18	31156035	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00167168761300052	0.052
18	28735998	A	G	18	31156035	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.42054606663092E-4	0.064
18	28735998	A	T	18	31156035	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.56873252566067E-4	0.084
18	28735999	A	C	18	31156036	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.9880247542135E-4	0.006
18	28735999	A	G	18	31156036	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.51535168367977E-4	0.016
18	28735999	A	T	18	31156036	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.99336846831429E-4	0.012
18	28736000	A	C	18	31156037	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0139451888156549	0.292
18	28736000	A	G	18	31156037	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0218043945320143	0.414
18	28736000	A	T	18	31156037	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.757318987569582	0.548
18	28736001	T	A	18	31156038	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0035894449902969	0.196
18	28736001	T	C	18	31156038	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.21164164269738E-4	0.038
18	28736001	T	G	18	31156038	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.66259858946113E-4	0.064
18	28736002	G	A	18	31156039	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00944104428704767	0.136
18	28736002	G	C	18	31156039	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.0366166797759E-4	0.144
18	28736002	G	T	18	31156039	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.46777877017611E-4	0.214
18	28736003	C	A	18	31156040	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0137453117382662	0.25
18	28736003	C	G	18	31156040	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.872712744971687	0.62
18	28736003	C	T	18	31156040	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.80601631356131E-5	0.036
18	28736004	A	C	18	31156041	y	y	splicing	DSC1(NM_004948:exon5:c.471+2T>G;NM_024421:exon5:c.471+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.471+2T>G;ENST00000257197:exon5:c.471+2T>G)	.	.	0.99994568797423	0.938
18	28736004	A	G	18	31156041	y	y	splicing	DSC1(NM_004948:exon5:c.471+2T>C;NM_024421:exon5:c.471+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.471+2T>C;ENST00000257197:exon5:c.471+2T>C)	.	.	0.999593509399216	0.878
18	28736004	A	T	18	31156041	y	y	splicing	DSC1(NM_004948:exon5:c.471+2T>A;NM_024421:exon5:c.471+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.471+2T>A;ENST00000257197:exon5:c.471+2T>A)	.	.	0.999978952611685	0.938
18	28736005	C	A	18	31156042	y	y	splicing	DSC1(NM_004948:exon5:c.471+1G>T;NM_024421:exon5:c.471+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.471+1G>T;ENST00000257197:exon5:c.471+1G>T)	.	.	0.999938578966706	0.948
18	28736005	C	G	18	31156042	y	y	splicing	DSC1(NM_004948:exon5:c.471+1G>C;NM_024421:exon5:c.471+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.471+1G>C;ENST00000257197:exon5:c.471+1G>C)	.	.	0.999938578966706	0.958
18	28736005	C	T	18	31156042	y	y	splicing	DSC1(NM_004948:exon5:c.471+1G>A;NM_024421:exon5:c.471+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.471+1G>A;ENST00000257197:exon5:c.471+1G>A)	.	.	0.999938578966706	0.948
18	28736006	C	A	18	31156043	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.G471T:p.Q157H;DSC1:NM_004948:exon4:c.G471T:p.Q157H;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.G471T:p.Q157H;ENSG00000134765:ENST00000257198:exon4:c.G471T:p.Q157H;	0.999995553603527	1.0
18	28736006	C	G	18	31156043	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.G471C:p.Q157H;DSC1:NM_004948:exon4:c.G471C:p.Q157H;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.G471C:p.Q157H;ENSG00000134765:ENST00000257198:exon4:c.G471C:p.Q157H;	0.999997925665413	1.0
18	28736006	C	T	18	31156043	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon4:c.G471A:p.Q157Q;DSC1:NM_004948:exon4:c.G471A:p.Q157Q;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.G471A:p.Q157Q;ENSG00000134765:ENST00000257198:exon4:c.G471A:p.Q157Q;	0.999979267545228	1.0
18	28736007	T	A	18	31156044	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.A470T:p.Q157L;DSC1:NM_004948:exon4:c.A470T:p.Q157L;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.A470T:p.Q157L;ENSG00000134765:ENST00000257198:exon4:c.A470T:p.Q157L;	0.999984115939933	0.996
18	28736007	T	C	18	31156044	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.A470G:p.Q157R;DSC1:NM_004948:exon4:c.A470G:p.Q157R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.A470G:p.Q157R;ENSG00000134765:ENST00000257198:exon4:c.A470G:p.Q157R;	0.999984115939933	1.0
18	28736007	T	G	18	31156044	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.A470C:p.Q157P;DSC1:NM_004948:exon4:c.A470C:p.Q157P;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.A470C:p.Q157P;ENSG00000134765:ENST00000257198:exon4:c.A470C:p.Q157P;	0.999939183909369	1.0
18	28736008	G	A	18	31156045	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon4:c.C469T:p.Q157X;DSC1:NM_004948:exon4:c.C469T:p.Q157X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon4:c.C469T:p.Q157X;ENSG00000134765:ENST00000257198:exon4:c.C469T:p.Q157X;	0.999899719803454	0.99
18	28736008	G	C	18	31156045	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.C469G:p.Q157E;DSC1:NM_004948:exon4:c.C469G:p.Q157E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.C469G:p.Q157E;ENSG00000134765:ENST00000257198:exon4:c.C469G:p.Q157E;	0.991732471551724	0.73
18	28736008	G	T	18	31156045	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.C469A:p.Q157K;DSC1:NM_004948:exon4:c.C469A:p.Q157K;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.C469A:p.Q157K;ENSG00000134765:ENST00000257198:exon4:c.C469A:p.Q157K;	0.965833655958285	0.764
18	28736124	G	A	18	31156161	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.C353T:p.S118F;DSC1:NM_004948:exon4:c.C353T:p.S118F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.C353T:p.S118F;ENSG00000134765:ENST00000257198:exon4:c.C353T:p.S118F;	2.27154141821253E-5	0.0
18	28736124	G	C	18	31156161	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.C353G:p.S118C;DSC1:NM_004948:exon4:c.C353G:p.S118C;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.C353G:p.S118C;ENSG00000134765:ENST00000257198:exon4:c.C353G:p.S118C;	1.18173801840802E-4	0.006
18	28736124	G	T	18	31156161	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.C353A:p.S118Y;DSC1:NM_004948:exon4:c.C353A:p.S118Y;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.C353A:p.S118Y;ENSG00000134765:ENST00000257198:exon4:c.C353A:p.S118Y;	6.78724854796212E-5	0.0
18	28736125	A	C	18	31156162	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.T352G:p.S118A;DSC1:NM_004948:exon4:c.T352G:p.S118A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.T352G:p.S118A;ENSG00000134765:ENST00000257198:exon4:c.T352G:p.S118A;	6.15710678122519E-5	0.064
18	28736125	A	G	18	31156162	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.T352C:p.S118P;DSC1:NM_004948:exon4:c.T352C:p.S118P;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.T352C:p.S118P;ENSG00000134765:ENST00000257198:exon4:c.T352C:p.S118P;	3.5619842964203E-4	0.11
18	28736125	A	T	18	31156162	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon4:c.T352A:p.S118T;DSC1:NM_004948:exon4:c.T352A:p.S118T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon4:c.T352A:p.S118T;ENSG00000134765:ENST00000257198:exon4:c.T352A:p.S118T;	1.78778313796105E-5	0.0
18	28736126	C	A	18	31156163	y	y	splicing	DSC1(NM_004948:exon5:c.352-1G>T;NM_024421:exon5:c.352-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.352-1G>T;ENST00000257197:exon5:c.352-1G>T)	.	.	0.999961878876652	0.904
18	28736126	C	G	18	31156163	y	y	splicing	DSC1(NM_004948:exon5:c.352-1G>C;NM_024421:exon5:c.352-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.352-1G>C;ENST00000257197:exon5:c.352-1G>C)	.	.	0.999961878876652	0.908
18	28736126	C	T	18	31156163	y	y	splicing	DSC1(NM_004948:exon5:c.352-1G>A;NM_024421:exon5:c.352-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.352-1G>A;ENST00000257197:exon5:c.352-1G>A)	.	.	0.999961878876652	0.904
18	28736127	T	A	18	31156164	y	y	splicing	DSC1(NM_004948:exon5:c.352-2A>T;NM_024421:exon5:c.352-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.352-2A>T;ENST00000257197:exon5:c.352-2A>T)	.	.	0.999954785339841	0.918
18	28736127	T	C	18	31156164	y	y	splicing	DSC1(NM_004948:exon5:c.352-2A>G;NM_024421:exon5:c.352-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.352-2A>G;ENST00000257197:exon5:c.352-2A>G)	.	.	0.999954785339841	0.92
18	28736127	T	G	18	31156164	y	y	splicing	DSC1(NM_004948:exon5:c.352-2A>C;NM_024421:exon5:c.352-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon5:c.352-2A>C;ENST00000257197:exon5:c.352-2A>C)	.	.	0.999954785339841	0.922
18	28736128	A	C	18	31156165	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.50302075852107	0.484
18	28736128	A	G	18	31156165	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.09131511867808E-4	0.02
18	28736128	A	T	18	31156165	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0349195597349213	0.208
18	28736129	C	A	18	31156166	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.37120188753337E-5	0.0
18	28736129	C	G	18	31156166	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.47756589410909E-5	0.0
18	28736129	C	T	18	31156166	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.27129527345825E-5	0.002
18	28736130	A	C	18	31156167	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99992977962488	0.94
18	28736130	A	G	18	31156167	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.54801565687828E-5	0.072
18	28736130	A	T	18	31156167	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999582146598125	0.93
18	28736131	T	A	18	31156168	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.23884661043687E-4	0.016
18	28736131	T	C	18	31156168	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99811665693554	0.936
18	28736131	T	G	18	31156168	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.5415229627385E-4	0.112
18	28736132	T	A	18	31156169	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.66670520101297E-5	0.06
18	28736132	T	C	18	31156169	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998979363757951	0.984
18	28736132	T	G	18	31156169	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.57279230070485E-4	0.016
18	28736133	T	A	18	31156170	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.45058774437475E-5	0.058
18	28736133	T	C	18	31156170	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.01131198287095E-5	0.044
18	28736133	T	G	18	31156170	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.1222347564475E-5	0.012
18	28736134	G	A	18	31156171	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.8699560310896E-4	0.038
18	28736134	G	C	18	31156171	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00657364975586269	0.088
18	28736134	G	T	18	31156171	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00196889313866792	0.064
18	28736135	A	C	18	31156172	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.745288318467027	0.63
18	28736135	A	G	18	31156172	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00161818877595422	0.088
18	28736135	A	T	18	31156172	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.767963468109887	0.568
18	28736136	C	A	18	31156173	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.23205817674096E-5	0.014
18	28736136	C	G	18	31156173	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.58521013633849E-5	0.0
18	28736136	C	T	18	31156173	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.34616798742747E-4	0.028
18	28736137	A	C	18	31156174	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00491320298343642	0.266
18	28736137	A	G	18	31156174	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.11504313513914E-4	0.008
18	28736137	A	T	18	31156174	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998859852241299	0.92
18	28737326	C	A	18	31157363	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.04900693216345E-6	0.0
18	28737326	C	G	18	31157363	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.6815803950322E-6	0.0
18	28737326	C	T	18	31157363	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.06341561599038E-6	0.0
18	28737327	C	A	18	31157364	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.07210833144075E-5	0.0
18	28737327	C	G	18	31157364	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.08457171098356E-4	0.0
18	28737327	C	T	18	31157364	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.87492303244752E-5	0.0
18	28737328	T	A	18	31157365	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.11667031312719E-4	0.068
18	28737328	T	C	18	31157365	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	8.07967007836898E-5	0.002
18	28737328	T	G	18	31157365	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.42276360156195E-4	0.044
18	28737329	T	A	18	31157366	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.58093480063566E-4	0.014
18	28737329	T	C	18	31157366	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.08479379397158E-5	0.006
18	28737329	T	G	18	31157366	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.56780274055015E-4	0.066
18	28737330	A	C	18	31157367	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.333470865001E-5	0.002
18	28737330	A	G	18	31157367	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.72896983586316E-4	0.03
18	28737330	A	T	18	31157367	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.94513112780016E-5	0.056
18	28737331	T	A	18	31157368	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999959417092743	0.97
18	28737331	T	C	18	31157368	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999846382839653	0.908
18	28737331	T	G	18	31157368	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999931667197708	0.93
18	28737332	A	C	18	31157369	y	y	splicing	DSC1(NM_004948:exon4:c.351+2T>G;NM_024421:exon4:c.351+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.351+2T>G;ENST00000257197:exon4:c.351+2T>G)	.	.	0.999988247793601	0.928
18	28737332	A	G	18	31157369	y	y	splicing	DSC1(NM_004948:exon4:c.351+2T>C;NM_024421:exon4:c.351+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.351+2T>C;ENST00000257197:exon4:c.351+2T>C)	.	.	0.994731650058242	0.716
18	28737332	A	T	18	31157369	y	y	splicing	DSC1(NM_004948:exon4:c.351+2T>A;NM_024421:exon4:c.351+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.351+2T>A;ENST00000257197:exon4:c.351+2T>A)	.	.	0.999988247793601	0.928
18	28737333	C	A	18	31157370	y	y	splicing	DSC1(NM_004948:exon4:c.351+1G>T;NM_024421:exon4:c.351+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.351+1G>T;ENST00000257197:exon4:c.351+1G>T)	.	.	0.999990361384395	0.934
18	28737333	C	G	18	31157370	y	y	splicing	DSC1(NM_004948:exon4:c.351+1G>C;NM_024421:exon4:c.351+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.351+1G>C;ENST00000257197:exon4:c.351+1G>C)	.	.	0.999990361384395	0.938
18	28737333	C	T	18	31157370	y	y	splicing	DSC1(NM_004948:exon4:c.351+1G>A;NM_024421:exon4:c.351+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.351+1G>A;ENST00000257197:exon4:c.351+1G>A)	.	.	0.999990361384395	0.936
18	28737334	C	A	18	31157371	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.G351T:p.K117N;DSC1:NM_004948:exon3:c.G351T:p.K117N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.G351T:p.K117N;ENSG00000134765:ENST00000257198:exon3:c.G351T:p.K117N;	0.999995009246243	0.996
18	28737334	C	G	18	31157371	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.G351C:p.K117N;DSC1:NM_004948:exon3:c.G351C:p.K117N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.G351C:p.K117N;ENSG00000134765:ENST00000257198:exon3:c.G351C:p.K117N;	0.999997360428448	1.0
18	28737334	C	T	18	31157371	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon3:c.G351A:p.K117K;DSC1:NM_004948:exon3:c.G351A:p.K117K;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.G351A:p.K117K;ENSG00000134765:ENST00000257198:exon3:c.G351A:p.K117K;	0.999983290191138	1.0
18	28737335	T	A	18	31157372	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.A350T:p.K117M;DSC1:NM_004948:exon3:c.A350T:p.K117M;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.A350T:p.K117M;ENSG00000134765:ENST00000257198:exon3:c.A350T:p.K117M;	0.999955156173214	1.0
18	28737335	T	C	18	31157372	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.A350G:p.K117R;DSC1:NM_004948:exon3:c.A350G:p.K117R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.A350G:p.K117R;ENSG00000134765:ENST00000257198:exon3:c.A350G:p.K117R;	0.999964758696707	1.0
18	28737335	T	G	18	31157372	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.A350C:p.K117T;DSC1:NM_004948:exon3:c.A350C:p.K117T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.A350C:p.K117T;ENSG00000134765:ENST00000257198:exon3:c.A350C:p.K117T;	0.999919675883934	1.0
18	28737336	T	A	18	31157373	y	y	exonic	DSC1	stopgain SNV	DSC1:NM_024421:exon3:c.A349T:p.K117X;DSC1:NM_004948:exon3:c.A349T:p.K117X;	exonic	ENSG00000134765	stopgain SNV	ENSG00000134765:ENST00000257197:exon3:c.A349T:p.K117X;ENSG00000134765:ENST00000257198:exon3:c.A349T:p.K117X;	0.999033647391359	0.856
18	28737336	T	C	18	31157373	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.A349G:p.K117E;DSC1:NM_004948:exon3:c.A349G:p.K117E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.A349G:p.K117E;ENSG00000134765:ENST00000257198:exon3:c.A349G:p.K117E;	0.746678503966839	0.51
18	28737336	T	G	18	31157373	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.A349C:p.K117Q;DSC1:NM_004948:exon3:c.A349C:p.K117Q;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.A349C:p.K117Q;ENSG00000134765:ENST00000257198:exon3:c.A349C:p.K117Q;	0.905869381354933	0.718
18	28737535	C	A	18	31157572	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon3:c.G150T:p.V50V;DSC1:NM_004948:exon3:c.G150T:p.V50V;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.G150T:p.V50V;ENSG00000134765:ENST00000257198:exon3:c.G150T:p.V50V;	0.0106557427388068	0.092
18	28737535	C	G	18	31157572	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon3:c.G150C:p.V50V;DSC1:NM_004948:exon3:c.G150C:p.V50V;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.G150C:p.V50V;ENSG00000134765:ENST00000257198:exon3:c.G150C:p.V50V;	0.00418740184407627	0.126
18	28737535	C	T	18	31157572	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon3:c.G150A:p.V50V;DSC1:NM_004948:exon3:c.G150A:p.V50V;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.G150A:p.V50V;ENSG00000134765:ENST00000257198:exon3:c.G150A:p.V50V;	0.019836337119924	0.196
18	28737536	A	C	18	31157573	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.T149G:p.V50G;DSC1:NM_004948:exon3:c.T149G:p.V50G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.T149G:p.V50G;ENSG00000134765:ENST00000257198:exon3:c.T149G:p.V50G;	0.752638762655966	0.552
18	28737536	A	G	18	31157573	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.T149C:p.V50A;DSC1:NM_004948:exon3:c.T149C:p.V50A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.T149C:p.V50A;ENSG00000134765:ENST00000257198:exon3:c.T149C:p.V50A;	0.879547792325395	0.72
18	28737536	A	T	18	31157573	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon3:c.T149A:p.V50E;DSC1:NM_004948:exon3:c.T149A:p.V50E;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon3:c.T149A:p.V50E;ENSG00000134765:ENST00000257198:exon3:c.T149A:p.V50E;	0.682226800692629	0.662
18	28737537	C	A	18	31157574	y	y	splicing	DSC1(NM_004948:exon4:c.149-1G>T;NM_024421:exon4:c.149-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.149-1G>T;ENST00000257197:exon4:c.149-1G>T)	.	.	0.999989072007339	0.934
18	28737537	C	G	18	31157574	y	y	splicing	DSC1(NM_004948:exon4:c.149-1G>C;NM_024421:exon4:c.149-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.149-1G>C;ENST00000257197:exon4:c.149-1G>C)	.	.	0.999989072007339	0.934
18	28737537	C	T	18	31157574	y	y	splicing	DSC1(NM_004948:exon4:c.149-1G>A;NM_024421:exon4:c.149-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.149-1G>A;ENST00000257197:exon4:c.149-1G>A)	.	.	0.999989072007339	0.934
18	28737538	T	A	18	31157575	y	y	splicing	DSC1(NM_004948:exon4:c.149-2A>T;NM_024421:exon4:c.149-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.149-2A>T;ENST00000257197:exon4:c.149-2A>T)	.	.	0.999981808176352	0.918
18	28737538	T	C	18	31157575	y	y	splicing	DSC1(NM_004948:exon4:c.149-2A>G;NM_024421:exon4:c.149-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.149-2A>G;ENST00000257197:exon4:c.149-2A>G)	.	.	0.999981808176352	0.918
18	28737538	T	G	18	31157575	y	y	splicing	DSC1(NM_004948:exon4:c.149-2A>C;NM_024421:exon4:c.149-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon4:c.149-2A>C;ENST00000257197:exon4:c.149-2A>C)	.	.	0.999981808176352	0.918
18	28737539	G	A	18	31157576	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00441919023591713	0.088
18	28737539	G	C	18	31157576	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999906651667925	0.968
18	28737539	G	T	18	31157576	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.996335254601059	0.844
18	28737540	C	A	18	31157577	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.05699141079796E-4	0.032
18	28737540	C	G	18	31157577	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.91023164740116E-4	0.026
18	28737540	C	T	18	31157577	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.97412953306523E-4	0.022
18	28737541	A	C	18	31157578	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00283529438747621	0.128
18	28737541	A	G	18	31157578	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.6936571921291E-5	0.012
18	28737541	A	T	18	31157578	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.994518330984389	0.834
18	28737542	G	A	18	31157579	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.21677428957191E-4	0.004
18	28737542	G	C	18	31157579	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00389165810485308	0.122
18	28737542	G	T	18	31157579	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00238209210639722	0.126
18	28737543	G	A	18	31157580	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.02354547895939E-5	0.008
18	28737543	G	C	18	31157580	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0164524941833931	0.116
18	28737543	G	T	18	31157580	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0145188911569052	0.112
18	28737544	G	A	18	31157581	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.28908239222322E-4	0.0
18	28737544	G	C	18	31157581	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0127316212346361	0.146
18	28737544	G	T	18	31157581	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00867575993680241	0.09
18	28737545	A	C	18	31157582	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0197838598360845	0.116
18	28737545	A	G	18	31157582	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.93250554648178E-4	0.062
18	28737545	A	T	18	31157582	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.014903841665021	0.242
18	28737546	A	C	18	31157583	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0131591109718914	0.122
18	28737546	A	G	18	31157583	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.27339789774753E-4	0.014
18	28737546	A	T	18	31157583	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0138997555344943	0.17
18	28737547	G	A	18	31157584	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.72202650714779E-4	0.0
18	28737547	G	C	18	31157584	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00352020076522974	0.152
18	28737547	G	T	18	31157584	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00947683426463642	0.18
18	28737548	A	C	18	31157585	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00835146201587668	0.07
18	28737548	A	G	18	31157585	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.52931259792646E-4	0.002
18	28737548	A	T	18	31157585	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0266211580841229	0.14
18	28739400	T	A	18	31159437	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.21627949821422E-5	0.0
18	28739400	T	C	18	31159437	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.44419281050419E-5	0.0
18	28739400	T	G	18	31159437	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.76220912340166E-5	0.0
18	28739401	T	A	18	31159438	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.54844388361984E-4	0.004
18	28739401	T	C	18	31159438	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.00039005654946E-4	0.0
18	28739401	T	G	18	31159438	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.60676020071976E-5	0.0
18	28739402	T	A	18	31159439	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.88552773126812E-4	0.012
18	28739402	T	C	18	31159439	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.29632436568104E-4	0.012
18	28739402	T	G	18	31159439	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00200508342931578	0.03
18	28739403	C	A	18	31159440	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999776472320662	0.92
18	28739403	C	G	18	31159440	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999902763266505	0.86
18	28739403	C	T	18	31159440	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999865172772378	0.914
18	28739404	T	A	18	31159441	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998189983869996	0.742
18	28739404	T	C	18	31159441	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.85232274154478	0.628
18	28739404	T	G	18	31159441	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.780436854002595	0.508
18	28739405	C	A	18	31159442	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0633011296383146	0.26
18	28739405	C	G	18	31159442	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0913358471303625	0.282
18	28739405	C	T	18	31159442	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.92870380820862E-5	0.002
18	28739406	A	C	18	31159443	y	y	splicing	DSC1(NM_004948:exon3:c.148+2T>G;NM_024421:exon3:c.148+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.148+2T>G;ENST00000257197:exon3:c.148+2T>G)	.	.	0.999964896440643	0.938
18	28739406	A	G	18	31159443	y	y	splicing	DSC1(NM_004948:exon3:c.148+2T>C;NM_024421:exon3:c.148+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.148+2T>C;ENST00000257197:exon3:c.148+2T>C)	.	.	0.999819218655501	0.898
18	28739406	A	T	18	31159443	y	y	splicing	DSC1(NM_004948:exon3:c.148+2T>A;NM_024421:exon3:c.148+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.148+2T>A;ENST00000257197:exon3:c.148+2T>A)	.	.	0.999946188727699	0.928
18	28739407	C	A	18	31159444	y	y	splicing	DSC1(NM_004948:exon3:c.148+1G>T;NM_024421:exon3:c.148+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.148+1G>T;ENST00000257197:exon3:c.148+1G>T)	.	.	0.99995586615188	0.94
18	28739407	C	G	18	31159444	y	y	splicing	DSC1(NM_004948:exon3:c.148+1G>C;NM_024421:exon3:c.148+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.148+1G>C;ENST00000257197:exon3:c.148+1G>C)	.	.	0.999971209564868	0.938
18	28739407	C	T	18	31159444	y	y	splicing	DSC1(NM_004948:exon3:c.148+1G>A;NM_024421:exon3:c.148+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.148+1G>A;ENST00000257197:exon3:c.148+1G>A)	.	.	0.99995586615188	0.912
18	28739408	C	A	18	31159445	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.G148T:p.V50L;DSC1:NM_004948:exon2:c.G148T:p.V50L;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.G148T:p.V50L;ENSG00000134765:ENST00000257198:exon2:c.G148T:p.V50L;	0.999972150672494	0.99
18	28739408	C	G	18	31159445	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.G148C:p.V50L;DSC1:NM_004948:exon2:c.G148C:p.V50L;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.G148C:p.V50L;ENSG00000134765:ENST00000257198:exon2:c.G148C:p.V50L;	0.999996975669247	0.998
18	28739408	C	T	18	31159445	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.G148A:p.V50M;DSC1:NM_004948:exon2:c.G148A:p.V50M;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.G148A:p.V50M;ENSG00000134765:ENST00000257198:exon2:c.G148A:p.V50M;	0.999980582654646	1.0
18	28739409	T	A	18	31159446	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.A147T:p.K49N;DSC1:NM_004948:exon2:c.A147T:p.K49N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.A147T:p.K49N;ENSG00000134765:ENST00000257198:exon2:c.A147T:p.K49N;	0.999658140115933	0.982
18	28739409	T	C	18	31159446	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon2:c.A147G:p.K49K;DSC1:NM_004948:exon2:c.A147G:p.K49K;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.A147G:p.K49K;ENSG00000134765:ENST00000257198:exon2:c.A147G:p.K49K;	0.760325023596361	0.568
18	28739409	T	G	18	31159446	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.A147C:p.K49N;DSC1:NM_004948:exon2:c.A147C:p.K49N;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.A147C:p.K49N;ENSG00000134765:ENST00000257198:exon2:c.A147C:p.K49N;	0.995621649534271	0.96
18	28739410	T	A	18	31159447	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.A146T:p.K49I;DSC1:NM_004948:exon2:c.A146T:p.K49I;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.A146T:p.K49I;ENSG00000134765:ENST00000257198:exon2:c.A146T:p.K49I;	0.129284626133817	0.348
18	28739410	T	C	18	31159447	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.A146G:p.K49R;DSC1:NM_004948:exon2:c.A146G:p.K49R;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.A146G:p.K49R;ENSG00000134765:ENST00000257198:exon2:c.A146G:p.K49R;	3.96269799526508E-5	0.018
18	28739410	T	G	18	31159447	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.A146C:p.K49T;DSC1:NM_004948:exon2:c.A146C:p.K49T;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.A146C:p.K49T;ENSG00000134765:ENST00000257198:exon2:c.A146C:p.K49T;	9.54838454167567E-5	0.01
18	28739491	A	C	18	31159528	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.T65G:p.V22G;DSC1:NM_004948:exon2:c.T65G:p.V22G;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.T65G:p.V22G;ENSG00000134765:ENST00000257198:exon2:c.T65G:p.V22G;	0.123983294621489	0.128
18	28739491	A	G	18	31159528	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.T65C:p.V22A;DSC1:NM_004948:exon2:c.T65C:p.V22A;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.T65C:p.V22A;ENSG00000134765:ENST00000257198:exon2:c.T65C:p.V22A;	0.00350162242371486	0.058
18	28739491	A	T	18	31159528	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.T65A:p.V22D;DSC1:NM_004948:exon2:c.T65A:p.V22D;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.T65A:p.V22D;ENSG00000134765:ENST00000257198:exon2:c.T65A:p.V22D;	0.00149383999384325	0.02
18	28739492	C	A	18	31159529	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.G64T:p.V22F;DSC1:NM_004948:exon2:c.G64T:p.V22F;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.G64T:p.V22F;ENSG00000134765:ENST00000257198:exon2:c.G64T:p.V22F;	0.999643624552912	0.674
18	28739492	C	G	18	31159529	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.G64C:p.V22L;DSC1:NM_004948:exon2:c.G64C:p.V22L;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.G64C:p.V22L;ENSG00000134765:ENST00000257198:exon2:c.G64C:p.V22L;	0.999310098150677	0.734
18	28739492	C	T	18	31159529	y	y	exonic	DSC1	nonsynonymous SNV	DSC1:NM_024421:exon2:c.G64A:p.V22I;DSC1:NM_004948:exon2:c.G64A:p.V22I;	exonic	ENSG00000134765	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon2:c.G64A:p.V22I;ENSG00000134765:ENST00000257198:exon2:c.G64A:p.V22I;	0.612881701165082	0.53
18	28739493	C	A	18	31159530	y	y	splicing	DSC1(NM_004948:exon3:c.64-1G>T;NM_024421:exon3:c.64-1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.64-1G>T;ENST00000257197:exon3:c.64-1G>T)	.	.	0.999991130701717	0.762
18	28739493	C	G	18	31159530	y	y	splicing	DSC1(NM_004948:exon3:c.64-1G>C;NM_024421:exon3:c.64-1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.64-1G>C;ENST00000257197:exon3:c.64-1G>C)	.	.	0.999991130701717	0.762
18	28739493	C	T	18	31159530	y	y	splicing	DSC1(NM_004948:exon3:c.64-1G>A;NM_024421:exon3:c.64-1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.64-1G>A;ENST00000257197:exon3:c.64-1G>A)	.	.	0.999991130701717	0.762
18	28739494	T	A	18	31159531	y	y	splicing	DSC1(NM_004948:exon3:c.64-2A>T;NM_024421:exon3:c.64-2A>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.64-2A>T;ENST00000257197:exon3:c.64-2A>T)	.	.	0.999962958601995	0.806
18	28739494	T	C	18	31159531	y	y	splicing	DSC1(NM_004948:exon3:c.64-2A>G;NM_024421:exon3:c.64-2A>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.64-2A>G;ENST00000257197:exon3:c.64-2A>G)	.	.	0.999980255680118	0.782
18	28739494	T	G	18	31159531	y	y	splicing	DSC1(NM_004948:exon3:c.64-2A>C;NM_024421:exon3:c.64-2A>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon3:c.64-2A>C;ENST00000257197:exon3:c.64-2A>C)	.	.	0.999980255680118	0.782
18	28739495	C	A	18	31159532	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	4.81430410918023E-5	0.024
18	28739495	C	G	18	31159532	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.1645388783992E-4	0.084
18	28739495	C	T	18	31159532	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	7.18246378874187E-5	0.018
18	28739496	A	C	18	31159533	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00456263586440243	0.068
18	28739496	A	G	18	31159533	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.4255819623129E-5	0.0
18	28739496	A	T	18	31159533	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0021843881354973	0.026
18	28739497	A	C	18	31159534	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0115899572049859	0.136
18	28739497	A	G	18	31159534	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0182929175282007	0.074
18	28739497	A	T	18	31159534	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.78589750215842	0.332
18	28739498	A	C	18	31159535	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0236440802807876	0.192
18	28739498	A	G	18	31159535	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00139184688495118	0.02
18	28739498	A	T	18	31159535	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.350265232128487	0.31
18	28739499	A	C	18	31159536	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.90590149893E-4	0.028
18	28739499	A	G	18	31159536	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.99121001552345E-5	0.0
18	28739499	A	T	18	31159536	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.51513048888514E-4	0.068
18	28739500	A	C	18	31159537	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0018091054345182	0.128
18	28739500	A	G	18	31159537	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	3.40150660486329E-4	0.036
18	28739500	A	T	18	31159537	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0166346669797729	0.084
18	28739501	A	C	18	31159538	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.74827054808422E-4	0.106
18	28739501	A	G	18	31159538	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	1.05041744111478E-4	0.0
18	28739501	A	T	18	31159538	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	5.23282783911448E-4	0.064
18	28739502	A	C	18	31159539	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.80734143206053E-4	0.072
18	28739502	A	G	18	31159539	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.88643113839037E-5	0.004
18	28739502	A	T	18	31159539	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.53301829734954E-4	0.058
18	28739503	A	C	18	31159540	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	6.73236181022184E-4	0.084
18	28739503	A	G	18	31159540	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	9.84490131597975E-5	0.0
18	28739503	A	T	18	31159540	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00137205279437592	0.094
18	28739504	A	C	18	31159541	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00114525189069075	0.258
18	28739504	A	G	18	31159541	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	2.66184183517769E-4	0.022
18	28739504	A	T	18	31159541	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00210180399901243	0.186
18	28742487	T	A	18	31162524	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.014224239764174	0.05
18	28742487	T	C	18	31162524	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00465136422477371	0.024
18	28742487	T	G	18	31162524	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00735928450732778	0.04
18	28742488	T	A	18	31162525	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0650056822630006	0.304
18	28742488	T	C	18	31162525	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0259427655512009	0.134
18	28742488	T	G	18	31162525	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.0310892605101004	0.186
18	28742489	A	C	18	31162526	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.887737361438786	0.51
18	28742489	A	G	18	31162526	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.786035228837554	0.66
18	28742489	A	T	18	31162526	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.954156894127686	0.736
18	28742490	C	A	18	31162527	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998884588313959	0.904
18	28742490	C	G	18	31162527	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.99980141177472	0.97
18	28742490	C	T	18	31162527	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998838962639935	0.976
18	28742491	T	A	18	31162528	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.998253711422301	0.86
18	28742491	T	C	18	31162528	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.994003046065371	0.898
18	28742491	T	G	18	31162528	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.98458454735788	0.736
18	28742492	C	A	18	31162529	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.997080861830932	0.806
18	28742492	C	G	18	31162529	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.999040235308552	0.884
18	28742492	C	T	18	31162529	y	y	ncRNA_intronic	RP11-408H20.2	.	.	ncRNA_intronic	ENSG00000265888	.	.	0.00537885810077928	0.038
18	28742493	A	C	18	31162530	y	y	splicing	DSC1(NM_004948:exon2:c.63+2T>G;NM_024421:exon2:c.63+2T>G)	.	.	splicing	ENSG00000134765(ENST00000257198:exon2:c.63+2T>G;ENST00000257197:exon2:c.63+2T>G)	.	.	0.999989917668626	0.924
18	28742493	A	G	18	31162530	y	y	splicing	DSC1(NM_004948:exon2:c.63+2T>C;NM_024421:exon2:c.63+2T>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon2:c.63+2T>C;ENST00000257197:exon2:c.63+2T>C)	.	.	0.999927254940125	0.858
18	28742493	A	T	18	31162530	y	y	splicing	DSC1(NM_004948:exon2:c.63+2T>A;NM_024421:exon2:c.63+2T>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon2:c.63+2T>A;ENST00000257197:exon2:c.63+2T>A)	.	.	0.999989917668626	0.876
18	28742494	C	A	18	31162531	y	y	splicing	DSC1(NM_004948:exon2:c.63+1G>T;NM_024421:exon2:c.63+1G>T)	.	.	splicing	ENSG00000134765(ENST00000257198:exon2:c.63+1G>T;ENST00000257197:exon2:c.63+1G>T)	.	.	0.999986675681007	0.94
18	28742494	C	G	18	31162531	y	y	splicing	DSC1(NM_004948:exon2:c.63+1G>C;NM_024421:exon2:c.63+1G>C)	.	.	splicing	ENSG00000134765(ENST00000257198:exon2:c.63+1G>C;ENST00000257197:exon2:c.63+1G>C)	.	.	0.999986675681007	0.94
18	28742494	C	T	18	31162531	y	y	splicing	DSC1(NM_004948:exon2:c.63+1G>A;NM_024421:exon2:c.63+1G>A)	.	.	splicing	ENSG00000134765(ENST00000257198:exon2:c.63+1G>A;ENST00000257197:exon2:c.63+1G>A)	.	.	0.999986675681007	0.934
18	28742495	C	A	18	31162532	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon1:c.G63T:p.L21L;DSC1:NM_004948:exon1:c.G63T:p.L21L;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.G63T:p.L21L;ENSG00000134765:ENST00000257198:exon1:c.G63T:p.L21L;	0.999206522041926	0.964
18	28742495	C	G	18	31162532	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon1:c.G63C:p.L21L;DSC1:NM_004948:exon1:c.G63C:p.L21L;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.G63C:p.L21L;ENSG00000134765:ENST00000257198:exon1:c.G63C:p.L21L;	0.999311044795678	0.83
18	28742495	C	T	18	31162532	y	y	exonic	DSC1	synonymous SNV	DSC1:NM_024421:exon1:c.G63A:p.L21L;DSC1:NM_004948:exon1:c.G63A:p.L21L;	exonic	ENSG00000134765	synonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.G63A:p.L21L;ENSG00000134765:ENST00000257198:exon1:c.G63A:p.L21L;	0.998568547398168	0.974
18	28742496	A	C	18	31162533	y	y	exonic;splicing	DSC1;RP11-408H20.2(NR_110785:exon4:c.299-2A>C)	nonsynonymous SNV	DSC1:NM_024421:exon1:c.T62G:p.L21R;DSC1:NM_004948:exon1:c.T62G:p.L21R;	exonic;splicing	ENSG00000134765;ENSG00000265888(ENST00000581836:exon4:c.299-2A>C)	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.T62G:p.L21R;ENSG00000134765:ENST00000257198:exon1:c.T62G:p.L21R;	0.931244091341677	0.836
18	28742496	A	G	18	31162533	y	y	exonic;splicing	DSC1;RP11-408H20.2(NR_110785:exon4:c.299-2A>G)	nonsynonymous SNV	DSC1:NM_024421:exon1:c.T62C:p.L21P;DSC1:NM_004948:exon1:c.T62C:p.L21P;	exonic;splicing	ENSG00000134765;ENSG00000265888(ENST00000581836:exon4:c.299-2A>G)	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.T62C:p.L21P;ENSG00000134765:ENST00000257198:exon1:c.T62C:p.L21P;	0.918913920122031	0.802
18	28742496	A	T	18	31162533	y	y	exonic;splicing	DSC1;RP11-408H20.2(NR_110785:exon4:c.299-2A>T)	nonsynonymous SNV	DSC1:NM_024421:exon1:c.T62A:p.L21Q;DSC1:NM_004948:exon1:c.T62A:p.L21Q;	exonic;splicing	ENSG00000134765;ENSG00000265888(ENST00000581836:exon4:c.299-2A>T)	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.T62A:p.L21Q;ENSG00000134765:ENST00000257198:exon1:c.T62A:p.L21Q;	0.571422583979147	0.578
18	28742497	G	A	18	31162534	y	y	exonic;splicing	DSC1;RP11-408H20.2(NR_110785:exon4:c.299-1G>A)	synonymous SNV	DSC1:NM_024421:exon1:c.C61T:p.L21L;DSC1:NM_004948:exon1:c.C61T:p.L21L;	exonic;splicing	ENSG00000134765;ENSG00000265888(ENST00000581836:exon4:c.299-1G>A)	synonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.C61T:p.L21L;ENSG00000134765:ENST00000257198:exon1:c.C61T:p.L21L;	0.0532533378744327	0.284
18	28742497	G	C	18	31162534	y	y	exonic;splicing	DSC1;RP11-408H20.2(NR_110785:exon4:c.299-1G>C)	nonsynonymous SNV	DSC1:NM_024421:exon1:c.C61G:p.L21V;DSC1:NM_004948:exon1:c.C61G:p.L21V;	exonic;splicing	ENSG00000134765;ENSG00000265888(ENST00000581836:exon4:c.299-1G>C)	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.C61G:p.L21V;ENSG00000134765:ENST00000257198:exon1:c.C61G:p.L21V;	0.00311705333813347	0.028
18	28742497	G	T	18	31162534	y	y	exonic;splicing	DSC1;RP11-408H20.2(NR_110785:exon4:c.299-1G>T)	nonsynonymous SNV	DSC1:NM_024421:exon1:c.C61A:p.L21M;DSC1:NM_004948:exon1:c.C61A:p.L21M;	exonic;splicing	ENSG00000134765;ENSG00000265888(ENST00000581836:exon4:c.299-1G>T)	nonsynonymous SNV	ENSG00000134765:ENST00000257197:exon1:c.C61A:p.L21M;ENSG00000134765:ENST00000257198:exon1:c.C61A:p.L21M;	0.00650971532236245	0.094
18	28898309	C	A	18	31318346	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon1:c.C46A:p.L16M;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.C46A:p.L16M;	3.08611313562775E-4	0.074
18	28898309	C	G	18	31318346	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon1:c.C46G:p.L16V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.C46G:p.L16V;	0.00155690274143156	0.128
18	28898309	C	T	18	31318346	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon1:c.C46T:p.L16L;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.C46T:p.L16L;	0.155502393661023	0.312
18	28898310	T	A	18	31318347	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon1:c.T47A:p.L16Q;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.T47A:p.L16Q;	0.00167683122555189	0.086
18	28898310	T	C	18	31318347	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon1:c.T47C:p.L16P;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.T47C:p.L16P;	0.158962997385114	0.318
18	28898310	T	G	18	31318347	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon1:c.T47G:p.L16R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.T47G:p.L16R;	0.146929119225417	0.248
18	28898311	G	A	18	31318348	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon1:c.G48A:p.L16L;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.G48A:p.L16L;	0.999979903353597	0.996
18	28898311	G	C	18	31318348	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon1:c.G48C:p.L16L;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.G48C:p.L16L;	0.999988615907852	0.952
18	28898311	G	T	18	31318348	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon1:c.G48T:p.L16L;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon1:c.G48T:p.L16L;	0.999965172836743	0.94
18	28898312	G	A	18	31318349	y	y	splicing	DSG1(NM_001942:exon1:c.48+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon1:c.48+1G>A)	.	.	0.999990361384395	0.938
18	28898312	G	C	18	31318349	y	y	splicing	DSG1(NM_001942:exon1:c.48+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon1:c.48+1G>C)	.	.	0.999990361384395	0.938
18	28898312	G	T	18	31318349	y	y	splicing	DSG1(NM_001942:exon1:c.48+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon1:c.48+1G>T)	.	.	0.999990361384395	0.938
18	28898313	T	A	18	31318350	y	y	splicing	DSG1(NM_001942:exon1:c.48+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon1:c.48+2T>A)	.	.	0.999986607513753	0.918
18	28898313	T	C	18	31318350	y	y	splicing	DSG1(NM_001942:exon1:c.48+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon1:c.48+2T>C)	.	.	0.999949326536153	0.862
18	28898313	T	G	18	31318350	y	y	splicing	DSG1(NM_001942:exon1:c.48+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon1:c.48+2T>G)	.	.	0.999986607513753	0.918
18	28898314	G	A	18	31318351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.84550523945638E-5	0.0
18	28898314	G	C	18	31318351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0876976502490837	0.552
18	28898314	G	T	18	31318351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.246098545715782	0.494
18	28898315	A	C	18	31318352	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.994587768839614	0.676
18	28898315	A	G	18	31318352	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.997308564443402	0.876
18	28898315	A	T	18	31318352	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.997904602084608	0.836
18	28898316	G	A	18	31318353	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.99998685344961	0.882
18	28898316	G	C	18	31318353	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999981782478846	0.916
18	28898316	G	T	18	31318353	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999969746903306	0.828
18	28898317	T	A	18	31318354	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999022914853673	0.872
18	28898317	T	C	18	31318354	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.991294905587592	0.838
18	28898317	T	G	18	31318354	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.990285211711252	0.74
18	28898318	G	A	18	31318355	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.727639137792365	0.644
18	28898318	G	C	18	31318355	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.727639137792365	0.448
18	28898318	G	T	18	31318355	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.815183026060658	0.506
18	28898319	G	A	18	31318356	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.64565939418366E-4	0.006
18	28898319	G	C	18	31318356	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.12949697115641E-4	0.004
18	28898319	G	T	18	31318356	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.64565939418366E-4	0.004
18	28906532	T	A	18	31326569	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.88138162619386E-5	0.086
18	28906532	T	C	18	31326569	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.88662048082546E-5	0.0
18	28906532	T	G	18	31326569	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.70386335745983E-5	0.072
18	28906533	A	C	18	31326570	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.83559129380614E-6	0.006
18	28906533	A	G	18	31326570	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.43405653845913E-5	0.0
18	28906533	A	T	18	31326570	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.33680737080974E-5	0.016
18	28906534	T	A	18	31326571	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	8.31978500598868E-4	0.196
18	28906534	T	C	18	31326571	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.98295628132243E-4	0.006
18	28906534	T	G	18	31326571	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.998286051931705	0.928
18	28906535	T	A	18	31326572	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.30082346995042E-5	0.054
18	28906535	T	C	18	31326572	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.66569345571369E-5	0.0
18	28906535	T	G	18	31326572	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.47126126838508E-5	0.042
18	28906536	T	A	18	31326573	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.63849090277934E-4	0.05
18	28906536	T	C	18	31326573	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.92602788290152E-5	0.0
18	28906536	T	G	18	31326573	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.07486956645212E-4	0.042
18	28906537	T	A	18	31326574	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.9579116154792E-5	0.014
18	28906537	T	C	18	31326574	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.99917763614878E-6	0.0
18	28906537	T	G	18	31326574	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.75195703300989E-5	0.01
18	28906538	T	A	18	31326575	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00224497199935773	0.124
18	28906538	T	C	18	31326575	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.53078602229947E-4	0.012
18	28906538	T	G	18	31326575	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00276036139532389	0.154
18	28906539	T	A	18	31326576	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.7910466010193E-5	0.052
18	28906539	T	C	18	31326576	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.71819468464806E-5	0.0
18	28906539	T	G	18	31326576	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.22348970233934E-5	0.046
18	28906540	A	C	18	31326577	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.90793999180889E-5	0.002
18	28906540	A	G	18	31326577	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.00047562990261E-5	0.002
18	28906540	A	T	18	31326577	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.27732389959662E-5	0.004
18	28906541	C	A	18	31326578	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0747458390568395	0.416
18	28906541	C	G	18	31326578	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.976647052727223	0.554
18	28906541	C	T	18	31326578	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.9814820884744E-4	0.09
18	28906542	A	C	18	31326579	y	y	splicing	DSG1(NM_001942:exon2:c.49-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.49-2A>C)	.	.	0.999962958601995	0.804
18	28906542	A	G	18	31326579	y	y	splicing	DSG1(NM_001942:exon2:c.49-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.49-2A>G)	.	.	0.999962958601995	0.804
18	28906542	A	T	18	31326579	y	y	splicing	DSG1(NM_001942:exon2:c.49-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.49-2A>T)	.	.	0.999962958601995	0.842
18	28906543	G	A	18	31326580	y	y	splicing	DSG1(NM_001942:exon2:c.49-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.49-1G>A)	.	.	0.99995545544995	0.932
18	28906543	G	C	18	31326580	y	y	splicing	DSG1(NM_001942:exon2:c.49-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.49-1G>C)	.	.	0.99995545544995	0.934
18	28906543	G	T	18	31326580	y	y	splicing	DSG1(NM_001942:exon2:c.49-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.49-1G>T)	.	.	0.99995545544995	0.934
18	28906544	G	A	18	31326581	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.G49A:p.V17M;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.G49A:p.V17M;	0.998548243455336	0.736
18	28906544	G	C	18	31326581	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.G49C:p.V17L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.G49C:p.V17L;	0.997948049216575	0.772
18	28906544	G	T	18	31326581	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.G49T:p.V17L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.G49T:p.V17L;	0.997956268015088	0.778
18	28906545	T	A	18	31326582	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.T50A:p.V17E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.T50A:p.V17E;	0.274219614081854	0.494
18	28906545	T	C	18	31326582	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.T50C:p.V17A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.T50C:p.V17A;	0.314237401864626	0.504
18	28906545	T	G	18	31326582	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.T50G:p.V17G;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.T50G:p.V17G;	0.318887987715402	0.506
18	28906577	C	A	18	31326614	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.C82A:p.Q28K;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.C82A:p.Q28K;	9.85986283035854E-5	0.07
18	28906577	C	G	18	31326614	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.C82G:p.Q28E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.C82G:p.Q28E;	9.35800920103464E-5	0.124
18	28906577	C	T	18	31326614	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon2:c.C82T:p.Q28X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon2:c.C82T:p.Q28X;	0.98357596660231	0.684
18	28906578	A	C	18	31326615	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.A83C:p.Q28P;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.A83C:p.Q28P;	0.950750328855682	0.632
18	28906578	A	G	18	31326615	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.A83G:p.Q28R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.A83G:p.Q28R;	0.991663584559817	0.924
18	28906578	A	T	18	31326615	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.A83T:p.Q28L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.A83T:p.Q28L;	0.99914415884582	0.998
18	28906579	G	A	18	31326616	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon2:c.G84A:p.Q28Q;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.G84A:p.Q28Q;	0.999978008519034	0.994
18	28906579	G	C	18	31326616	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.G84C:p.Q28H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.G84C:p.Q28H;	0.99999576554663	1.0
18	28906579	G	T	18	31326616	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon2:c.G84T:p.Q28H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon2:c.G84T:p.Q28H;	0.999985562940625	0.986
18	28906580	G	A	18	31326617	y	y	splicing	DSG1(NM_001942:exon2:c.84+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.84+1G>A)	.	.	0.99997775019564	0.898
18	28906580	G	C	18	31326617	y	y	splicing	DSG1(NM_001942:exon2:c.84+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.84+1G>C)	.	.	0.999974785031454	0.884
18	28906580	G	T	18	31326617	y	y	splicing	DSG1(NM_001942:exon2:c.84+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.84+1G>T)	.	.	0.999977162774916	0.872
18	28906581	T	A	18	31326618	y	y	splicing	DSG1(NM_001942:exon2:c.84+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.84+2T>A)	.	.	0.999962958601995	0.804
18	28906581	T	C	18	31326618	y	y	splicing	DSG1(NM_001942:exon2:c.84+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.84+2T>C)	.	.	0.906508138262818	0.588
18	28906581	T	G	18	31326618	y	y	splicing	DSG1(NM_001942:exon2:c.84+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon2:c.84+2T>G)	.	.	0.999962958601995	0.796
18	28906582	A	C	18	31326619	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999876973344425	0.922
18	28906582	A	G	18	31326619	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.992927340259277	0.558
18	28906582	A	T	18	31326619	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999806638312164	0.924
18	28906583	A	C	18	31326620	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.177585821748908	0.408
18	28906583	A	G	18	31326620	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.71788848261614	0.638
18	28906583	A	T	18	31326620	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.440995945302511	0.502
18	28906584	T	A	18	31326621	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.00668479527823E-5	0.004
18	28906584	T	C	18	31326621	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.77835017361019E-5	0.0
18	28906584	T	G	18	31326621	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.33608607235739E-4	0.064
18	28906585	A	C	18	31326622	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.77643877534406E-4	0.054
18	28906585	A	G	18	31326622	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.88118695217084E-5	0.0
18	28906585	A	T	18	31326622	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.17412744740018E-5	0.0
18	28906586	T	A	18	31326623	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.08240466956362E-5	0.0
18	28906586	T	C	18	31326623	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.08240466956362E-5	0.0
18	28906586	T	G	18	31326623	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.08240466956362E-5	0.0
18	28906587	A	C	18	31326624	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.73074145835433E-5	0.0
18	28906587	A	G	18	31326624	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.09316813601654E-5	0.0
18	28906587	A	T	18	31326624	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.43949593129782E-5	0.0
18	28906825	C	A	18	31326862	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.82262409729361E-4	0.054
18	28906825	C	G	18	31326862	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.16608478794922E-4	0.072
18	28906825	C	T	18	31326862	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.44058849247202E-5	0.008
18	28906826	T	A	18	31326863	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.992699137610078	0.744
18	28906826	T	C	18	31326863	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.55920814565895E-4	0.04
18	28906826	T	G	18	31326863	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0230118895941036	0.348
18	28906827	G	A	18	31326864	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.06436776755126E-4	0.054
18	28906827	G	C	18	31326864	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.19401700413382E-5	0.004
18	28906827	G	T	18	31326864	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.19401700413382E-5	0.002
18	28906828	T	A	18	31326865	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.108570022273161	0.326
18	28906828	T	C	18	31326865	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.59536743358818E-4	0.014
18	28906828	T	G	18	31326865	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0396125749954992	0.128
18	28906829	C	A	18	31326866	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00401693485940782	0.148
18	28906829	C	G	18	31326866	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00540802351517411	0.06
18	28906829	C	T	18	31326866	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.28041945946189E-5	0.006
18	28906830	A	C	18	31326867	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.03714867195318E-4	0.024
18	28906830	A	G	18	31326867	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.29712894429151E-4	0.006
18	28906830	A	T	18	31326867	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.02627040101942E-4	0.058
18	28906831	T	A	18	31326868	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.1750501926664	0.306
18	28906831	T	C	18	31326868	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.19531760120616E-4	0.072
18	28906831	T	G	18	31326868	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999873326214279	0.912
18	28906832	T	A	18	31326869	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.965188571935963	0.658
18	28906832	T	C	18	31326869	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0148675550836021	0.272
18	28906832	T	G	18	31326869	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.96635185421139	0.632
18	28906833	T	A	18	31326870	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00255132512456901	0.078
18	28906833	T	C	18	31326870	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00147697098492337	0.032
18	28906833	T	G	18	31326870	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00257085185552947	0.098
18	28906834	A	C	18	31326871	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.6315636942898E-4	0.044
18	28906834	A	G	18	31326871	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.384987479069607	0.388
18	28906834	A	T	18	31326871	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.03402727790191E-4	0.012
18	28906835	A	C	18	31326872	y	y	splicing	DSG1(NM_001942:exon3:c.85-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.85-2A>C)	.	.	0.999988247793601	0.936
18	28906835	A	G	18	31326872	y	y	splicing	DSG1(NM_001942:exon3:c.85-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.85-2A>G)	.	.	0.999988247793601	0.936
18	28906835	A	T	18	31326872	y	y	splicing	DSG1(NM_001942:exon3:c.85-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.85-2A>T)	.	.	0.999988247793601	0.936
18	28906836	G	A	18	31326873	y	y	splicing	DSG1(NM_001942:exon3:c.85-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.85-1G>A)	.	.	0.999986675681007	0.944
18	28906836	G	C	18	31326873	y	y	splicing	DSG1(NM_001942:exon3:c.85-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.85-1G>C)	.	.	0.999986675681007	0.944
18	28906836	G	T	18	31326873	y	y	splicing	DSG1(NM_001942:exon3:c.85-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.85-1G>T)	.	.	0.999986675681007	0.936
18	28906837	G	A	18	31326874	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.G85A:p.V29I;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.G85A:p.V29I;	0.999854770702558	0.954
18	28906837	G	C	18	31326874	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.G85C:p.V29L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.G85C:p.V29L;	0.999830799702815	0.988
18	28906837	G	T	18	31326874	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.G85T:p.V29L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.G85T:p.V29L;	0.99992025240636	0.998
18	28906838	T	A	18	31326875	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.T86A:p.V29E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.T86A:p.V29E;	0.0353316097687051	0.194
18	28906838	T	C	18	31326875	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.T86C:p.V29A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.T86C:p.V29A;	0.0778701700298067	0.332
18	28906838	T	G	18	31326875	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.T86G:p.V29G;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.T86G:p.V29G;	0.0428160713702001	0.194
18	28906966	A	C	18	31327003	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.A214C:p.K72Q;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.A214C:p.K72Q;	0.586693851196744	0.508
18	28906966	A	G	18	31327003	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.A214G:p.K72E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.A214G:p.K72E;	0.0434048203750234	0.34
18	28906966	A	T	18	31327003	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon3:c.A214T:p.K72X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon3:c.A214T:p.K72X;	0.964590631635859	0.786
18	28906967	A	C	18	31327004	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.A215C:p.K72T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.A215C:p.K72T;	0.986947505878317	0.844
18	28906967	A	G	18	31327004	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.A215G:p.K72R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.A215G:p.K72R;	0.995799118930787	0.906
18	28906967	A	T	18	31327004	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.A215T:p.K72I;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.A215T:p.K72I;	0.99960159887449	0.966
18	28906968	A	C	18	31327005	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.A216C:p.K72N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.A216C:p.K72N;	0.00978870439537048	0.16
18	28906968	A	G	18	31327005	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon3:c.A216G:p.K72K;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.A216G:p.K72K;	0.00107891735025062	0.054
18	28906968	A	T	18	31327005	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon3:c.A216T:p.K72N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon3:c.A216T:p.K72N;	0.0867896616549651	0.242
18	28906969	G	A	18	31327006	y	y	splicing	DSG1(NM_001942:exon3:c.216+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.216+1G>A)	.	.	0.999938422912956	0.95
18	28906969	G	C	18	31327006	y	y	splicing	DSG1(NM_001942:exon3:c.216+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.216+1G>C)	.	.	0.999938422912956	0.95
18	28906969	G	T	18	31327006	y	y	splicing	DSG1(NM_001942:exon3:c.216+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.216+1G>T)	.	.	0.999938422912956	0.95
18	28906970	T	A	18	31327007	y	y	splicing	DSG1(NM_001942:exon3:c.216+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.216+2T>A)	.	.	0.999939583170295	0.952
18	28906970	T	C	18	31327007	y	y	splicing	DSG1(NM_001942:exon3:c.216+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.216+2T>C)	.	.	0.921229437639048	0.572
18	28906970	T	G	18	31327007	y	y	splicing	DSG1(NM_001942:exon3:c.216+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon3:c.216+2T>G)	.	.	0.999939583170295	0.952
18	28906971	A	C	18	31327008	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999204829786209	0.842
18	28906971	A	G	18	31327008	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.532657046330476	0.406
18	28906971	A	T	18	31327008	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.972588760948878	0.812
18	28906972	G	A	18	31327009	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.31234185432366E-5	0.04
18	28906972	G	C	18	31327009	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.92664731911314E-4	0.06
18	28906972	G	T	18	31327009	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.26493010132989E-5	0.038
18	28906973	G	A	18	31327010	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999960441075223	0.934
18	28906973	G	C	18	31327010	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999983538079	0.968
18	28906973	G	T	18	31327010	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999979165290894	0.95
18	28906974	T	A	18	31327011	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.169153709899551	0.452
18	28906974	T	C	18	31327011	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0353738775315615	0.278
18	28906974	T	G	18	31327011	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.329452810029367	0.582
18	28906975	A	C	18	31327012	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.90973368333769E-4	0.004
18	28906975	A	G	18	31327012	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.93002096963833E-4	0.018
18	28906975	A	T	18	31327012	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.64463592646725E-4	0.024
18	28906976	T	A	18	31327013	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.4588018794618E-4	0.05
18	28906976	T	C	18	31327013	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.10899775751143E-4	0.006
18	28906976	T	G	18	31327013	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00144385074614266	0.088
18	28908140	T	A	18	31328177	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00413848082031986	0.154
18	28908140	T	C	18	31328177	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.7391289646715E-4	0.018
18	28908140	T	G	18	31328177	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00298997621688493	0.118
18	28908141	T	A	18	31328178	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0166805458882911	0.3
18	28908141	T	C	18	31328178	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0010713658921744	0.068
18	28908141	T	G	18	31328178	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00156599976620133	0.16
18	28908142	C	A	18	31328179	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.9103469463903E-4	0.072
18	28908142	C	G	18	31328179	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00291173933378619	0.08
18	28908142	C	T	18	31328179	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.67816767962568E-5	0.002
18	28908143	C	A	18	31328180	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	8.48815816920586E-4	0.084
18	28908143	C	G	18	31328180	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.88113770993024E-4	0.078
18	28908143	C	T	18	31328180	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.10145034921569E-5	0.078
18	28908144	T	A	18	31328181	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00393851674093485	0.218
18	28908144	T	C	18	31328181	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	8.89806969080391E-5	0.006
18	28908144	T	G	18	31328181	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0026141637389597	0.214
18	28908145	T	A	18	31328182	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00967664736701189	0.18
18	28908145	T	C	18	31328182	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.23822043615195E-4	0.0
18	28908145	T	G	18	31328182	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0200985175230601	0.226
18	28908146	C	A	18	31328183	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.91482169556053E-4	0.076
18	28908146	C	G	18	31328183	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.11789750321132E-4	0.024
18	28908146	C	T	18	31328183	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.66583653074897E-5	0.0
18	28908147	T	A	18	31328184	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999391491847539	0.898
18	28908147	T	C	18	31328184	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.851802343316E-4	0.066
18	28908147	T	G	18	31328184	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0212943983783488	0.346
18	28908148	G	A	18	31328185	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.09511085251482E-4	0.012
18	28908148	G	C	18	31328185	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.34124800740854E-4	0.028
18	28908148	G	T	18	31328185	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.21211010881869E-4	0.04
18	28908149	C	A	18	31328186	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.941438329961832	0.618
18	28908149	C	G	18	31328186	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.99962993446558	0.972
18	28908149	C	T	18	31328186	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00362858583607538	0.074
18	28908150	A	C	18	31328187	y	y	splicing	DSG1(NM_001942:exon4:c.217-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.217-2A>C)	.	.	0.999988247793601	0.928
18	28908150	A	G	18	31328187	y	y	splicing	DSG1(NM_001942:exon4:c.217-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.217-2A>G)	.	.	0.999988247793601	0.928
18	28908150	A	T	18	31328187	y	y	splicing	DSG1(NM_001942:exon4:c.217-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.217-2A>T)	.	.	0.999988247793601	0.928
18	28908151	G	A	18	31328188	y	y	splicing	DSG1(NM_001942:exon4:c.217-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.217-1G>A)	.	.	0.999986675681007	0.932
18	28908151	G	C	18	31328188	y	y	splicing	DSG1(NM_001942:exon4:c.217-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.217-1G>C)	.	.	0.999986675681007	0.932
18	28908151	G	T	18	31328188	y	y	splicing	DSG1(NM_001942:exon4:c.217-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.217-1G>T)	.	.	0.999986675681007	0.932
18	28908152	A	C	18	31328189	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.A217C:p.I73L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.A217C:p.I73L;	0.242512232028467	0.604
18	28908152	A	G	18	31328189	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.A217G:p.I73V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.A217G:p.I73V;	0.651091688707689	0.616
18	28908152	A	T	18	31328189	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.A217T:p.I73F;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.A217T:p.I73F;	0.259645157604102	0.55
18	28908153	T	A	18	31328190	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.T218A:p.I73N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T218A:p.I73N;	0.108222628447143	0.458
18	28908153	T	C	18	31328190	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.T218C:p.I73T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T218C:p.I73T;	0.157162656828865	0.46
18	28908153	T	G	18	31328190	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.T218G:p.I73S;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T218G:p.I73S;	0.174192173397524	0.51
18	28908305	A	C	18	31328342	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.A370C:p.I124L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.A370C:p.I124L;	1.45106614946814E-4	0.022
18	28908305	A	G	18	31328342	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.A370G:p.I124V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.A370G:p.I124V;	0.0257179345925968	0.156
18	28908305	A	T	18	31328342	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.A370T:p.I124F;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.A370T:p.I124F;	0.752040054499709	0.52
18	28908306	T	A	18	31328343	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.T371A:p.I124N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T371A:p.I124N;	0.00400461961402947	0.154
18	28908306	T	C	18	31328343	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.T371C:p.I124T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T371C:p.I124T;	0.00882188803137451	0.052
18	28908306	T	G	18	31328343	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.T371G:p.I124S;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T371G:p.I124S;	0.274082258657707	0.212
18	28908307	T	A	18	31328344	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon4:c.T372A:p.I124I;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T372A:p.I124I;	1.90971055460295E-4	0.002
18	28908307	T	C	18	31328344	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon4:c.T372C:p.I124I;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T372C:p.I124I;	3.15111147370684E-4	0.112
18	28908307	T	G	18	31328344	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon4:c.T372G:p.I124M;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon4:c.T372G:p.I124M;	7.47684955751707E-5	0.118
18	28908308	G	A	18	31328345	y	y	splicing	DSG1(NM_001942:exon4:c.372+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.372+1G>A)	.	.	0.999976137096505	0.928
18	28908308	G	C	18	31328345	y	y	splicing	DSG1(NM_001942:exon4:c.372+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.372+1G>C)	.	.	0.999938422912956	0.922
18	28908308	G	T	18	31328345	y	y	splicing	DSG1(NM_001942:exon4:c.372+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.372+1G>T)	.	.	0.999938422912956	0.928
18	28908309	T	A	18	31328346	y	y	splicing	DSG1(NM_001942:exon4:c.372+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.372+2T>A)	.	.	0.99994568797423	0.924
18	28908309	T	C	18	31328346	y	y	splicing	DSG1(NM_001942:exon4:c.372+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.372+2T>C)	.	.	0.982106279493755	0.66
18	28908309	T	G	18	31328346	y	y	splicing	DSG1(NM_001942:exon4:c.372+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon4:c.372+2T>G)	.	.	0.99994568797423	0.928
18	28908310	A	C	18	31328347	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999267287191185	0.918
18	28908310	A	G	18	31328347	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0151373721420867	0.208
18	28908310	A	T	18	31328347	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999614623990366	0.948
18	28908311	A	C	18	31328348	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.984280167437701	0.788
18	28908311	A	G	18	31328348	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.960332950897486	0.872
18	28908311	A	T	18	31328348	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.978406110568645	0.812
18	28908312	G	A	18	31328349	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999981156892802	0.994
18	28908312	G	C	18	31328349	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999989052977656	0.956
18	28908312	G	T	18	31328349	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999975678632232	0.99
18	28908313	T	A	18	31328350	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.949272101157557	0.622
18	28908313	T	C	18	31328350	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.832646071753725	0.604
18	28908313	T	G	18	31328350	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.920684571575868	0.652
18	28908314	G	A	18	31328351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.24268202054074E-4	0.002
18	28908314	G	C	18	31328351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.82413368466299E-4	0.0
18	28908314	G	T	18	31328351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.09453009663339E-4	0.0
18	28908315	G	A	18	31328352	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.80014916385417E-5	0.016
18	28908315	G	C	18	31328352	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.44312574922614E-5	0.016
18	28908315	G	T	18	31328352	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.80014916385417E-5	0.016
18	28909843	T	A	18	31329880	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.83412990820685E-5	0.2
18	28909843	T	C	18	31329880	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.85206248252229E-5	0.016
18	28909843	T	G	18	31329880	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.75118738869929E-5	0.158
18	28909844	T	A	18	31329881	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.49769018176022E-5	0.038
18	28909844	T	C	18	31329881	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.06362604079495E-5	0.0
18	28909844	T	G	18	31329881	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.68309856104361E-5	0.04
18	28909845	T	A	18	31329882	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.96662440267592E-4	0.11
18	28909845	T	C	18	31329882	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.91655634173803E-5	0.004
18	28909845	T	G	18	31329882	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.48173415167814E-4	0.068
18	28909846	C	A	18	31329883	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.36960995631132E-5	0.012
18	28909846	C	G	18	31329883	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.36960995631132E-5	0.01
18	28909846	C	T	18	31329883	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.28137586681329E-5	0.0
18	28909847	T	A	18	31329884	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.18443858402319E-4	0.056
18	28909847	T	C	18	31329884	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.30626193148804E-5	0.02
18	28909847	T	G	18	31329884	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.66783905136042E-5	0.046
18	28909848	C	A	18	31329885	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.35827053159772E-5	0.042
18	28909848	C	G	18	31329885	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.11048177635793E-5	0.022
18	28909848	C	T	18	31329885	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.98719068520114E-5	0.012
18	28909849	T	A	18	31329886	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00138226914167601	0.088
18	28909849	T	C	18	31329886	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.18656857890274E-5	0.002
18	28909849	T	G	18	31329886	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00141959009307232	0.104
18	28909850	C	A	18	31329887	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.6755399568599E-5	0.034
18	28909850	C	G	18	31329887	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.6755399568599E-5	0.044
18	28909850	C	T	18	31329887	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.20270160035567E-5	0.006
18	28909851	C	A	18	31329888	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.59360338380665E-6	0.0
18	28909851	C	G	18	31329888	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.33869165270087E-6	0.006
18	28909851	C	T	18	31329888	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.59360338380665E-6	0.0
18	28909852	C	A	18	31329889	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.507546484542958	0.542
18	28909852	C	G	18	31329889	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999408819525804	0.872
18	28909852	C	T	18	31329889	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00181798007537265	0.084
18	28909853	A	C	18	31329890	y	y	splicing	DSG1(NM_001942:exon5:c.373-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.373-2A>C)	.	.	0.999980255680118	0.748
18	28909853	A	G	18	31329890	y	y	splicing	DSG1(NM_001942:exon5:c.373-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.373-2A>G)	.	.	0.999980255680118	0.75
18	28909853	A	T	18	31329890	y	y	splicing	DSG1(NM_001942:exon5:c.373-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.373-2A>T)	.	.	0.999980255680118	0.784
18	28909854	G	A	18	31329891	y	y	splicing	DSG1(NM_001942:exon5:c.373-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.373-1G>A)	.	.	0.999955305608527	0.738
18	28909854	G	C	18	31329891	y	y	splicing	DSG1(NM_001942:exon5:c.373-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.373-1G>C)	.	.	0.999955305608527	0.738
18	28909854	G	T	18	31329891	y	y	splicing	DSG1(NM_001942:exon5:c.373-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.373-1G>T)	.	.	0.999955305608527	0.738
18	28909855	A	C	18	31329892	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.A373C:p.I125L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A373C:p.I125L;	0.0519628116525413	0.292
18	28909855	A	G	18	31329892	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.A373G:p.I125V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A373G:p.I125V;	0.00459710934961424	0.084
18	28909855	A	T	18	31329892	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.A373T:p.I125F;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A373T:p.I125F;	0.253650095001809	0.472
18	28909856	T	A	18	31329893	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.T374A:p.I125N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.T374A:p.I125N;	0.260143434156647	0.332
18	28909856	T	C	18	31329893	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.T374C:p.I125T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.T374C:p.I125T;	0.122387146062512	0.252
18	28909856	T	G	18	31329893	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.T374G:p.I125S;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.T374G:p.I125S;	0.148312533201537	0.32
18	28909997	C	A	18	31330034	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.C515A:p.A172E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.C515A:p.A172E;	0.941813826171218	0.752
18	28909997	C	G	18	31330034	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.C515G:p.A172G;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.C515G:p.A172G;	0.910595334012347	0.63
18	28909997	C	T	18	31330034	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.C515T:p.A172V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.C515T:p.A172V;	0.997419300487122	0.936
18	28909998	A	C	18	31330035	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon5:c.A516C:p.A172A;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A516C:p.A172A;	0.48552994982788	0.658
18	28909998	A	G	18	31330035	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon5:c.A516G:p.A172A;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A516G:p.A172A;	0.27844247208018	0.632
18	28909998	A	T	18	31330035	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon5:c.A516T:p.A172A;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A516T:p.A172A;	0.495812118420737	0.616
18	28909999	A	C	18	31330036	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.A517C:p.N173H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A517C:p.N173H;	0.51870067206319	0.662
18	28909999	A	G	18	31330036	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.A517G:p.N173D;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A517G:p.N173D;	0.513889066648317	0.384
18	28909999	A	T	18	31330036	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon5:c.A517T:p.N173Y;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon5:c.A517T:p.N173Y;	0.737042856329504	0.644
18	28910000	G	A	18	31330037	y	y	splicing	DSG1(NM_001942:exon5:c.517+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.517+1G>A)	.	.	0.999989072007339	0.934
18	28910000	G	C	18	31330037	y	y	splicing	DSG1(NM_001942:exon5:c.517+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.517+1G>C)	.	.	0.999989072007339	0.934
18	28910000	G	T	18	31330037	y	y	splicing	DSG1(NM_001942:exon5:c.517+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.517+1G>T)	.	.	0.999989072007339	0.934
18	28910001	T	A	18	31330038	y	y	splicing	DSG1(NM_001942:exon5:c.517+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.517+2T>A)	.	.	0.999988247793601	0.932
18	28910001	T	C	18	31330038	y	y	splicing	DSG1(NM_001942:exon5:c.517+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.517+2T>C)	.	.	0.994359181757974	0.692
18	28910001	T	G	18	31330038	y	y	splicing	DSG1(NM_001942:exon5:c.517+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon5:c.517+2T>G)	.	.	0.999988247793601	0.932
18	28910002	A	C	18	31330039	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999657517851693	0.944
18	28910002	A	G	18	31330039	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0744340057954872	0.236
18	28910002	A	T	18	31330039	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.994163316150742	0.878
18	28910003	A	C	18	31330040	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999001427225057	0.912
18	28910003	A	G	18	31330040	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.996785463468912	0.898
18	28910003	A	T	18	31330040	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999172211516621	0.878
18	28910004	G	A	18	31330041	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999068969470202	0.854
18	28910004	G	C	18	31330041	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999611244437195	0.878
18	28910004	G	T	18	31330041	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.998503752341169	0.804
18	28910005	T	A	18	31330042	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.992312828300721	0.796
18	28910005	T	C	18	31330042	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.872852313278792	0.828
18	28910005	T	G	18	31330042	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.928309751536999	0.758
18	28910006	A	C	18	31330043	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.45945217200515E-5	0.004
18	28910006	A	G	18	31330043	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.4720228130805E-5	0.022
18	28910006	A	T	18	31330043	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.04551991149388E-5	0.004
18	28910007	A	C	18	31330044	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.45945217200515E-5	0.006
18	28910007	A	G	18	31330044	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.53447394000352E-5	0.016
18	28910007	A	T	18	31330044	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.45945217200515E-5	0.008
18	28911652	C	A	18	31331689	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0120472221570074	0.16
18	28911652	C	G	18	31331689	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0108426740968287	0.148
18	28911652	C	T	18	31331689	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.79649490890067E-4	0.086
18	28911653	T	A	18	31331690	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.994843191194693	0.844
18	28911653	T	C	18	31331690	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.515538165067384	0.44
18	28911653	T	G	18	31331690	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.990047301179409	0.826
18	28911654	T	A	18	31331691	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.95023567906474	0.69
18	28911654	T	C	18	31331691	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00151441084867391	0.038
18	28911654	T	G	18	31331691	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.969664821201248	0.72
18	28911655	A	C	18	31331692	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.53072496014076E-5	0.002
18	28911655	A	G	18	31331692	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.55649316232772E-4	0.012
18	28911655	A	T	18	31331692	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.41879288877185E-5	0.0
18	28911656	A	C	18	31331693	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.79355988446857E-4	0.004
18	28911656	A	G	18	31331693	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999795139395492	0.982
18	28911656	A	T	18	31331693	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.22466008973896E-4	0.0
18	28911657	T	A	18	31331694	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.885972303517495	0.6
18	28911657	T	C	18	31331694	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00374412589290851	0.042
18	28911657	T	G	18	31331694	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999918488869613	0.968
18	28911658	T	A	18	31331695	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.839178710724529	0.772
18	28911658	T	C	18	31331695	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.66070857046399E-4	0.018
18	28911658	T	G	18	31331695	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.882033064161586	0.758
18	28911659	T	A	18	31331696	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.908661838820201	0.688
18	28911659	T	C	18	31331696	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0127237324817101	0.18
18	28911659	T	G	18	31331696	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.990681586878611	0.728
18	28911660	C	A	18	31331697	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0110016284659664	0.13
18	28911660	C	G	18	31331697	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0227812068889825	0.114
18	28911660	C	T	18	31331697	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00726917047312719	0.128
18	28911661	T	A	18	31331698	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0665471177342901	0.284
18	28911661	T	C	18	31331698	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.34654867799238E-5	0.002
18	28911661	T	G	18	31331698	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.997749693807887	0.886
18	28911662	A	C	18	31331699	y	y	splicing	DSG1(NM_001942:exon6:c.518-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.518-2A>C)	.	.	0.999988247793601	0.932
18	28911662	A	G	18	31331699	y	y	splicing	DSG1(NM_001942:exon6:c.518-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.518-2A>G)	.	.	0.999988247793601	0.932
18	28911662	A	T	18	31331699	y	y	splicing	DSG1(NM_001942:exon6:c.518-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.518-2A>T)	.	.	0.999988247793601	0.932
18	28911663	G	A	18	31331700	y	y	splicing	DSG1(NM_001942:exon6:c.518-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.518-1G>A)	.	.	0.999990361384395	0.938
18	28911663	G	C	18	31331700	y	y	splicing	DSG1(NM_001942:exon6:c.518-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.518-1G>C)	.	.	0.999990361384395	0.938
18	28911663	G	T	18	31331700	y	y	splicing	DSG1(NM_001942:exon6:c.518-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.518-1G>T)	.	.	0.999990361384395	0.938
18	28911664	A	C	18	31331701	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.A518C:p.N173T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.A518C:p.N173T;	0.824711958137692	0.668
18	28911664	A	G	18	31331701	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.A518G:p.N173S;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.A518G:p.N173S;	0.705115605529027	0.614
18	28911664	A	T	18	31331701	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.A518T:p.N173I;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.A518T:p.N173I;	0.792374078151271	0.582
18	28911665	T	A	18	31331702	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.T519A:p.N173K;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.T519A:p.N173K;	2.10033623860387E-4	0.108
18	28911665	T	C	18	31331702	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon6:c.T519C:p.N173N;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.T519C:p.N173N;	9.29829298289456E-4	0.108
18	28911665	T	G	18	31331702	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.T519G:p.N173K;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.T519G:p.N173K;	4.85121526381565E-5	0.138
18	28911828	G	A	18	31331865	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.G682A:p.E228K;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.G682A:p.E228K;	0.939477738037073	0.816
18	28911828	G	C	18	31331865	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.G682C:p.E228Q;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.G682C:p.E228Q;	0.916611319444115	0.778
18	28911828	G	T	18	31331865	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon6:c.G682T:p.E228X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon6:c.G682T:p.E228X;	0.97892500956471	0.856
18	28911829	A	C	18	31331866	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.A683C:p.E228A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.A683C:p.E228A;	0.996610284905428	0.86
18	28911829	A	G	18	31331866	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.A683G:p.E228G;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.A683G:p.E228G;	0.999170226459492	0.952
18	28911829	A	T	18	31331866	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.A683T:p.E228V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.A683T:p.E228V;	0.999834387757197	0.998
18	28911830	G	A	18	31331867	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon6:c.G684A:p.E228E;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.G684A:p.E228E;	0.99976839913698	0.998
18	28911830	G	C	18	31331867	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.G684C:p.E228D;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.G684C:p.E228D;	0.99999607857281	1.0
18	28911830	G	T	18	31331867	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon6:c.G684T:p.E228D;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon6:c.G684T:p.E228D;	0.999995058644317	1.0
18	28911831	G	A	18	31331868	y	y	splicing	DSG1(NM_001942:exon6:c.684+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.684+1G>A)	.	.	0.999985532734767	0.936
18	28911831	G	C	18	31331868	y	y	splicing	DSG1(NM_001942:exon6:c.684+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.684+1G>C)	.	.	0.999985532734767	0.936
18	28911831	G	T	18	31331868	y	y	splicing	DSG1(NM_001942:exon6:c.684+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.684+1G>T)	.	.	0.999985532734767	0.936
18	28911832	T	A	18	31331869	y	y	splicing	DSG1(NM_001942:exon6:c.684+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.684+2T>A)	.	.	0.999988247793601	0.928
18	28911832	T	C	18	31331869	y	y	splicing	DSG1(NM_001942:exon6:c.684+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.684+2T>C)	.	.	0.992783534660112	0.644
18	28911832	T	G	18	31331869	y	y	splicing	DSG1(NM_001942:exon6:c.684+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon6:c.684+2T>G)	.	.	0.999988247793601	0.928
18	28911833	A	C	18	31331870	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.99939069573906	0.916
18	28911833	A	G	18	31331870	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.9817809629589	0.828
18	28911833	A	T	18	31331870	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999704131241837	0.9
18	28911834	A	C	18	31331871	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.611220015489514	0.302
18	28911834	A	G	18	31331871	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.889688374522346	0.556
18	28911834	A	T	18	31331871	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.59873988597891	0.396
18	28911835	T	A	18	31331872	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.43251051294783E-4	0.052
18	28911835	T	C	18	31331872	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.52052364124012E-4	0.024
18	28911835	T	G	18	31331872	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.83375779690121E-4	0.06
18	28911836	T	A	18	31331873	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0170224176461598	0.346
18	28911836	T	C	18	31331873	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.160890216342215	0.366
18	28911836	T	G	18	31331873	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0047094995003918	0.29
18	28911837	C	A	18	31331874	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.4093045939512E-4	0.002
18	28911837	C	G	18	31331874	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.71634989283606E-4	0.006
18	28911837	C	T	18	31331874	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.89318564106786E-4	0.04
18	28911838	T	A	18	31331875	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.23778874302271E-4	0.0
18	28911838	T	C	18	31331875	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.23778874302271E-4	0.008
18	28911838	T	G	18	31331875	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.4882419947241E-5	0.008
18	28913540	A	C	18	31333577	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.85796195071684E-5	0.006
18	28913540	A	G	18	31333577	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.22783484265742E-5	0.018
18	28913540	A	T	18	31333577	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.75750845649509E-5	0.002
18	28913541	T	A	18	31333578	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999941856716906	0.898
18	28913541	T	C	18	31333578	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.491676659881639	0.638
18	28913541	T	G	18	31333578	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999962504802912	0.964
18	28913542	G	A	18	31333579	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00209499082695229	0.168
18	28913542	G	C	18	31333579	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.22206505679195E-4	0.07
18	28913542	G	T	18	31333579	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.20228156361279E-4	0.062
18	28913543	T	A	18	31333580	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00118748219852848	0.198
18	28913543	T	C	18	31333580	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.96170068066161E-5	0.006
18	28913543	T	G	18	31333580	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00698624572773348	0.148
18	28913544	A	C	18	31333581	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.28275900898474E-5	0.0
18	28913544	A	G	18	31333581	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.03108686481584E-5	0.002
18	28913544	A	T	18	31333581	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.03488284773683E-5	0.0
18	28913545	T	A	18	31333582	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0940032039753993	0.352
18	28913545	T	C	18	31333582	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.40639104301397E-4	0.036
18	28913545	T	G	18	31333582	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999893571184363	0.992
18	28913546	T	A	18	31333583	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.13838694738307	0.568
18	28913546	T	C	18	31333583	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.74694244501922E-4	0.026
18	28913546	T	G	18	31333583	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.443214127455297	0.598
18	28913547	T	A	18	31333584	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.961232587737474	0.718
18	28913547	T	C	18	31333584	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.196184639272346	0.416
18	28913547	T	G	18	31333584	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.993615603904594	0.736
18	28913548	T	A	18	31333585	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.50860911720157E-4	0.0
18	28913548	T	C	18	31333585	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.4662545992104E-4	0.026
18	28913548	T	G	18	31333585	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.18318271590441E-4	0.038
18	28913549	T	A	18	31333586	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00105502630740081	0.27
18	28913549	T	C	18	31333586	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.36746817722277E-5	0.014
18	28913549	T	G	18	31333586	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.94216675258742	0.59
18	28913550	A	C	18	31333587	y	y	splicing	DSG1(NM_001942:exon7:c.685-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.685-2A>C)	.	.	0.999986741007567	0.942
18	28913550	A	G	18	31333587	y	y	splicing	DSG1(NM_001942:exon7:c.685-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.685-2A>G)	.	.	0.999986741007567	0.942
18	28913550	A	T	18	31333587	y	y	splicing	DSG1(NM_001942:exon7:c.685-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.685-2A>T)	.	.	0.999986741007567	0.942
18	28913551	G	A	18	31333588	y	y	splicing	DSG1(NM_001942:exon7:c.685-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.685-1G>A)	.	.	0.999989125585301	0.936
18	28913551	G	C	18	31333588	y	y	splicing	DSG1(NM_001942:exon7:c.685-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.685-1G>C)	.	.	0.999989125585301	0.942
18	28913551	G	T	18	31333588	y	y	splicing	DSG1(NM_001942:exon7:c.685-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.685-1G>T)	.	.	0.999989125585301	0.942
18	28913552	C	A	18	31333589	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.C685A:p.Q229K;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.C685A:p.Q229K;	1.35637608537661E-4	0.058
18	28913552	C	G	18	31333589	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.C685G:p.Q229E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.C685G:p.Q229E;	0.00123784896678768	0.19
18	28913552	C	T	18	31333589	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon7:c.C685T:p.Q229X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon7:c.C685T:p.Q229X;	0.00512605832349345	0.36
18	28913553	A	C	18	31333590	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.A686C:p.Q229P;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.A686C:p.Q229P;	2.62221238396447E-4	0.074
18	28913553	A	G	18	31333590	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.A686G:p.Q229R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.A686G:p.Q229R;	6.08512995603347E-5	0.092
18	28913553	A	T	18	31333590	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.A686T:p.Q229L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.A686T:p.Q229L;	2.85106914228205E-4	0.292
18	28913684	T	A	18	31333721	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.T817A:p.S273T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.T817A:p.S273T;	1.3978110015153E-5	0.096
18	28913684	T	C	18	31333721	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.T817C:p.S273P;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.T817C:p.S273P;	1.03746034351457E-5	0.094
18	28913684	T	G	18	31333721	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.T817G:p.S273A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.T817G:p.S273A;	2.66049704362316E-5	0.166
18	28913685	C	A	18	31333722	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon7:c.C818A:p.S273X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon7:c.C818A:p.S273X;	1.91604411478609E-4	0.25
18	28913685	C	G	18	31333722	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon7:c.C818G:p.S273X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon7:c.C818G:p.S273X;	1.88330505746261E-4	0.196
18	28913685	C	T	18	31333722	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon7:c.C818T:p.S273L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.C818T:p.S273L;	6.61772022072175E-5	0.13
18	28913686	A	C	18	31333723	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon7:c.A819C:p.S273S;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.A819C:p.S273S;	1.41556597142281E-5	0.022
18	28913686	A	G	18	31333723	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon7:c.A819G:p.S273S;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.A819G:p.S273S;	3.17757047100005E-5	0.094
18	28913686	A	T	18	31333723	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon7:c.A819T:p.S273S;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon7:c.A819T:p.S273S;	7.40836031549565E-5	0.07
18	28913687	G	A	18	31333724	y	y	splicing	DSG1(NM_001942:exon7:c.819+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.819+1G>A)	.	.	0.999971209564868	0.936
18	28913687	G	C	18	31333724	y	y	splicing	DSG1(NM_001942:exon7:c.819+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.819+1G>C)	.	.	0.999976475802857	0.906
18	28913687	G	T	18	31333724	y	y	splicing	DSG1(NM_001942:exon7:c.819+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.819+1G>T)	.	.	0.999970205305079	0.922
18	28913688	T	A	18	31333725	y	y	splicing	DSG1(NM_001942:exon7:c.819+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.819+2T>A)	.	.	0.999963671976247	0.924
18	28913688	T	C	18	31333725	y	y	splicing	DSG1(NM_001942:exon7:c.819+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.819+2T>C)	.	.	0.998814899744441	0.79
18	28913688	T	G	18	31333725	y	y	splicing	DSG1(NM_001942:exon7:c.819+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon7:c.819+2T>G)	.	.	0.999971317418422	0.9
18	28913689	A	C	18	31333726	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.998986281198935	0.872
18	28913689	A	G	18	31333726	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0227696735557091	0.396
18	28913689	A	T	18	31333726	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.998687022502533	0.888
18	28913690	A	C	18	31333727	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.931937136473524	0.68
18	28913690	A	G	18	31333727	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.983725835780833	0.82
18	28913690	A	T	18	31333727	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.991526607481178	0.762
18	28913691	G	A	18	31333728	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999988877708164	0.998
18	28913691	G	C	18	31333728	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999995308362077	0.986
18	28913691	G	T	18	31333728	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.99999346025844	0.998
18	28913692	T	A	18	31333729	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.196727744204816	0.536
18	28913692	T	C	18	31333729	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.333119933901607	0.568
18	28913692	T	G	18	31333729	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.265147484979748	0.618
18	28913693	A	C	18	31333730	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.67398793333509E-5	0.0
18	28913693	A	G	18	31333730	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.6960832133971E-5	0.0
18	28913693	A	T	18	31333730	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.80627125478284E-5	0.0
18	28913694	T	A	18	31333731	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.0156650247E-4	0.0
18	28913694	T	C	18	31333731	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.60334831445329E-5	0.002
18	28913694	T	G	18	31333731	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.6624252288149E-5	0.004
18	28913968	T	A	18	31334005	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0279886024736961	0.328
18	28913968	T	C	18	31334005	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.32927441796325E-4	0.0
18	28913968	T	G	18	31334005	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0624264405761477	0.412
18	28913969	T	A	18	31334006	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.970990724078067	0.604
18	28913969	T	C	18	31334006	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.37613752112582	0.372
18	28913969	T	G	18	31334006	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.51360605005779	0.474
18	28913970	C	A	18	31334007	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.07208589039559E-4	0.054
18	28913970	C	G	18	31334007	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.42387539009933E-4	0.062
18	28913970	C	T	18	31334007	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.07093269666356E-5	0.002
18	28913971	T	A	18	31334008	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.291204309812823	0.532
18	28913971	T	C	18	31334008	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00165724854596288	0.194
18	28913971	T	G	18	31334008	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.106660012259363	0.492
18	28913972	T	A	18	31334009	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999191386954704	0.92
18	28913972	T	C	18	31334009	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.28389936650102E-5	0.002
18	28913972	T	G	18	31334009	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.61179313604114E-4	0.052
18	28913973	G	A	18	31334010	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	8.2100480870541E-5	0.014
18	28913973	G	C	18	31334010	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.58681131583572E-5	0.014
18	28913973	G	T	18	31334010	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.48645323951998E-5	0.002
18	28913974	T	A	18	31334011	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.653031684190245	0.518
18	28913974	T	C	18	31334011	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00447947744767137	0.212
18	28913974	T	G	18	31334011	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.906923247934516	0.538
18	28913975	T	A	18	31334012	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.898587028675788	0.482
18	28913975	T	C	18	31334012	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.193789566746077	0.364
18	28913975	T	G	18	31334012	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.961949780379473	0.534
18	28913976	T	A	18	31334013	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.1915906077375E-4	0.04
18	28913976	T	C	18	31334013	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.83647189737821E-4	0.032
18	28913976	T	G	18	31334013	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.2792199741586E-4	0.032
18	28913977	C	A	18	31334014	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.875896102678346	0.634
18	28913977	C	G	18	31334014	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999558887177164	0.89
18	28913977	C	T	18	31334014	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00391633743856355	0.142
18	28913978	A	C	18	31334015	y	y	splicing	DSG1(NM_001942:exon8:c.820-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.820-2A>C)	.	.	0.999971317418422	0.894
18	28913978	A	G	18	31334015	y	y	splicing	DSG1(NM_001942:exon8:c.820-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.820-2A>G)	.	.	0.999971317418422	0.894
18	28913978	A	T	18	31334015	y	y	splicing	DSG1(NM_001942:exon8:c.820-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.820-2A>T)	.	.	0.999971317418422	0.9
18	28913979	G	A	18	31334016	y	y	splicing	DSG1(NM_001942:exon8:c.820-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.820-1G>A)	.	.	0.999960597114489	0.906
18	28913979	G	C	18	31334016	y	y	splicing	DSG1(NM_001942:exon8:c.820-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.820-1G>C)	.	.	0.999976475802857	0.908
18	28913979	G	T	18	31334016	y	y	splicing	DSG1(NM_001942:exon8:c.820-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.820-1G>T)	.	.	0.999976475802857	0.91
18	28913980	T	A	18	31334017	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.T820A:p.Y274N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.T820A:p.Y274N;	7.80775186572318E-6	0.068
18	28913980	T	C	18	31334017	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.T820C:p.Y274H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.T820C:p.Y274H;	3.77620011972379E-5	0.098
18	28913980	T	G	18	31334017	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.T820G:p.Y274D;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.T820G:p.Y274D;	2.69129223009936E-5	0.154
18	28913981	A	C	18	31334018	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.A821C:p.Y274S;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.A821C:p.Y274S;	0.937618379060607	0.82
18	28913981	A	G	18	31334018	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.A821G:p.Y274C;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.A821G:p.Y274C;	0.933803177267658	0.708
18	28913981	A	T	18	31334018	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.A821T:p.Y274F;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.A821T:p.Y274F;	0.908008966177615	0.696
18	28914163	A	C	18	31334200	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.A1003C:p.K335Q;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.A1003C:p.K335Q;	0.624840181852473	0.536
18	28914163	A	G	18	31334200	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.A1003G:p.K335E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.A1003G:p.K335E;	0.421000509686946	0.33
18	28914163	A	T	18	31334200	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon8:c.A1003T:p.K335X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon8:c.A1003T:p.K335X;	0.994168723853044	0.698
18	28914164	A	C	18	31334201	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.A1004C:p.K335T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.A1004C:p.K335T;	0.999601697864808	0.976
18	28914164	A	G	18	31334201	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.A1004G:p.K335R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.A1004G:p.K335R;	0.999804666115817	0.996
18	28914164	A	T	18	31334201	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.A1004T:p.K335M;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.A1004T:p.K335M;	0.999858743172531	0.998
18	28914165	G	A	18	31334202	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon8:c.G1005A:p.K335K;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.G1005A:p.K335K;	0.999591480017194	0.97
18	28914165	G	C	18	31334202	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.G1005C:p.K335N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.G1005C:p.K335N;	0.999997465036175	0.998
18	28914165	G	T	18	31334202	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon8:c.G1005T:p.K335N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon8:c.G1005T:p.K335N;	0.999981012584588	0.962
18	28914166	G	A	18	31334203	y	y	splicing	DSG1(NM_001942:exon8:c.1005+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.1005+1G>A)	.	.	0.999986675681007	0.932
18	28914166	G	C	18	31334203	y	y	splicing	DSG1(NM_001942:exon8:c.1005+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.1005+1G>C)	.	.	0.999986675681007	0.932
18	28914166	G	T	18	31334203	y	y	splicing	DSG1(NM_001942:exon8:c.1005+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.1005+1G>T)	.	.	0.999986675681007	0.932
18	28914167	T	A	18	31334204	y	y	splicing	DSG1(NM_001942:exon8:c.1005+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.1005+2T>A)	.	.	0.999988247793601	0.926
18	28914167	T	C	18	31334204	y	y	splicing	DSG1(NM_001942:exon8:c.1005+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.1005+2T>C)	.	.	0.986973409415639	0.612
18	28914167	T	G	18	31334204	y	y	splicing	DSG1(NM_001942:exon8:c.1005+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon8:c.1005+2T>G)	.	.	0.999988247793601	0.926
18	28914168	A	C	18	31334205	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999457706244048	0.944
18	28914168	A	G	18	31334205	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.997878668479992	0.934
18	28914168	A	T	18	31334205	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.9988430726074	0.974
18	28914169	T	A	18	31334206	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.08342466377284E-4	0.058
18	28914169	T	C	18	31334206	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.10258236085684E-4	0.008
18	28914169	T	G	18	31334206	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.18688172844854E-5	0.016
18	28914170	G	A	18	31334207	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.104116796327545	0.416
18	28914170	G	C	18	31334207	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.600336241764956	0.518
18	28914170	G	T	18	31334207	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.33569771441984	0.426
18	28914171	G	A	18	31334208	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.69032647106513E-4	0.014
18	28914171	G	C	18	31334208	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.23973981546705E-4	0.056
18	28914171	G	T	18	31334208	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.61186837052841E-5	0.012
18	28914172	T	A	18	31334209	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.53900613593478E-4	0.0
18	28914172	T	C	18	31334209	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.79865203918993E-4	0.0
18	28914172	T	G	18	31334209	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.72600496632918E-4	0.0
18	28914173	A	C	18	31334210	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.24902792964548E-4	0.126
18	28914173	A	G	18	31334210	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.28114872629571E-4	0.124
18	28914173	A	T	18	31334210	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.27554537890337E-4	0.096
18	28916305	T	A	18	31336342	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999904938540336	0.958
18	28916305	T	C	18	31336342	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00803856775821413	0.084
18	28916305	T	G	18	31336342	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.994298151803198	0.81
18	28916306	G	A	18	31336343	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.19079808052583E-4	0.134
18	28916306	G	C	18	31336343	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.07690753459173E-5	0.032
18	28916306	G	T	18	31336343	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.97205922246664E-5	0.05
18	28916307	T	A	18	31336344	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.983976370826342	0.756
18	28916307	T	C	18	31336344	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0089362837007181	0.138
18	28916307	T	G	18	31336344	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.992000970010428	0.79
18	28916308	A	C	18	31336345	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.15107646386031E-4	0.054
18	28916308	A	G	18	31336345	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.21231799428905E-4	0.074
18	28916308	A	T	18	31336345	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.88824400439324E-6	0.014
18	28916309	T	A	18	31336346	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.014453547672754	0.08
18	28916309	T	C	18	31336346	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.76413590868094E-5	0.0
18	28916309	T	G	18	31336346	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999956684981617	0.992
18	28916310	T	A	18	31336347	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0919858838468813	0.138
18	28916310	T	C	18	31336347	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.10518589460028E-4	0.06
18	28916310	T	G	18	31336347	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0245705262833539	0.136
18	28916311	T	A	18	31336348	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.993046521145203	0.824
18	28916311	T	C	18	31336348	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.21777350868516	0.32
18	28916311	T	G	18	31336348	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.993381869915575	0.83
18	28916312	T	A	18	31336349	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.969422993475284	0.826
18	28916312	T	C	18	31336349	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0127727039279343	0.056
18	28916312	T	G	18	31336349	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.981125811496081	0.854
18	28916313	C	A	18	31336350	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00605250752574499	0.13
18	28916313	C	G	18	31336350	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0219665892429937	0.12
18	28916313	C	T	18	31336350	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0125280593963578	0.148
18	28916314	T	A	18	31336351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0435026436863332	0.328
18	28916314	T	C	18	31336351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.86018462478638E-5	0.0
18	28916314	T	G	18	31336351	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.993259818855385	0.796
18	28916315	A	C	18	31336352	y	y	splicing	DSG1(NM_001942:exon9:c.1006-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1006-2A>C)	.	.	0.999988247793601	0.932
18	28916315	A	G	18	31336352	y	y	splicing	DSG1(NM_001942:exon9:c.1006-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1006-2A>G)	.	.	0.999988247793601	0.932
18	28916315	A	T	18	31336352	y	y	splicing	DSG1(NM_001942:exon9:c.1006-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1006-2A>T)	.	.	0.999988247793601	0.932
18	28916316	G	A	18	31336353	y	y	splicing	DSG1(NM_001942:exon9:c.1006-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1006-1G>A)	.	.	0.999989072007339	0.934
18	28916316	G	C	18	31336353	y	y	splicing	DSG1(NM_001942:exon9:c.1006-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1006-1G>C)	.	.	0.999989072007339	0.934
18	28916316	G	T	18	31336353	y	y	splicing	DSG1(NM_001942:exon9:c.1006-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1006-1G>T)	.	.	0.999989072007339	0.934
18	28916317	C	A	18	31336354	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.C1006A:p.P336T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.C1006A:p.P336T;	5.527550768122E-4	0.0
18	28916317	C	G	18	31336354	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.C1006G:p.P336A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.C1006G:p.P336A;	2.61172188885198E-4	0.176
18	28916317	C	T	18	31336354	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.C1006T:p.P336S;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.C1006T:p.P336S;	0.00771311943740825	0.196
18	28916318	C	A	18	31336355	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.C1007A:p.P336H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.C1007A:p.P336H;	0.986533534052219	0.874
18	28916318	C	G	18	31336355	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.C1007G:p.P336R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.C1007G:p.P336R;	0.98091274186756	0.676
18	28916318	C	T	18	31336355	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.C1007T:p.P336L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.C1007T:p.P336L;	0.976418423567223	0.796
18	28916574	T	A	18	31336611	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon9:c.T1263A:p.V421V;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.T1263A:p.V421V;	1.03915678708256E-4	0.0
18	28916574	T	C	18	31336611	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon9:c.T1263C:p.V421V;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.T1263C:p.V421V;	1.21869131388668E-4	0.002
18	28916574	T	G	18	31336611	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon9:c.T1263G:p.V421V;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.T1263G:p.V421V;	2.83265137956917E-4	0.016
18	28916575	A	C	18	31336612	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon9:c.A1264C:p.R422R;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.A1264C:p.R422R;	0.106173815174484	0.468
18	28916575	A	G	18	31336612	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.A1264G:p.R422G;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.A1264G:p.R422G;	0.659069523106696	0.586
18	28916575	A	T	18	31336612	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.A1264T:p.R422W;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.A1264T:p.R422W;	0.647007832707812	0.608
18	28916576	G	A	18	31336613	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.G1265A:p.R422K;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.G1265A:p.R422K;	0.99989296018945	0.96
18	28916576	G	C	18	31336613	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.G1265C:p.R422T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.G1265C:p.R422T;	0.999874661696717	0.97
18	28916576	G	T	18	31336613	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon9:c.G1265T:p.R422M;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon9:c.G1265T:p.R422M;	0.999695337237303	0.938
18	28916577	G	A	18	31336614	y	y	splicing	DSG1(NM_001942:exon9:c.1265+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1265+1G>A)	.	.	0.999986675681007	0.932
18	28916577	G	C	18	31336614	y	y	splicing	DSG1(NM_001942:exon9:c.1265+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1265+1G>C)	.	.	0.999986675681007	0.932
18	28916577	G	T	18	31336614	y	y	splicing	DSG1(NM_001942:exon9:c.1265+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1265+1G>T)	.	.	0.999986675681007	0.932
18	28916578	T	A	18	31336615	y	y	splicing	DSG1(NM_001942:exon9:c.1265+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1265+2T>A)	.	.	0.999988247793601	0.924
18	28916578	T	C	18	31336615	y	y	splicing	DSG1(NM_001942:exon9:c.1265+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1265+2T>C)	.	.	0.991589165956681	0.644
18	28916578	T	G	18	31336615	y	y	splicing	DSG1(NM_001942:exon9:c.1265+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon9:c.1265+2T>G)	.	.	0.999978952611685	0.926
18	28916579	A	C	18	31336616	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.984087922407864	0.718
18	28916579	A	G	18	31336616	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.181984403416237	0.282
18	28916579	A	T	18	31336616	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.997542914651693	0.74
18	28916580	A	C	18	31336617	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.474078896560235	0.384
18	28916580	A	G	18	31336617	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.741776705972963	0.526
18	28916580	A	T	18	31336617	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.462991473497758	0.41
18	28916581	G	A	18	31336618	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.986922377757418	0.838
18	28916581	G	C	18	31336618	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.932871416814767	0.76
18	28916581	G	T	18	31336618	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.848705147348091	0.552
18	28916582	A	C	18	31336619	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	8.6865488956657E-5	0.008
18	28916582	A	G	18	31336619	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.12239432122591E-5	0.0
18	28916582	A	T	18	31336619	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.16625192557728E-5	0.008
18	28916583	A	C	18	31336620	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.25467202314132E-5	0.0
18	28916583	A	G	18	31336620	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.25467202314132E-5	0.0
18	28916583	A	T	18	31336620	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.44782879808027E-4	0.0
18	28916584	T	A	18	31336621	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.1714885049373E-4	0.008
18	28916584	T	C	18	31336621	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.93338122508907E-4	0.0
18	28916584	T	G	18	31336621	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.93338122508907E-4	0.016
18	28918266	T	A	18	31338303	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.951595931436175	0.73
18	28918266	T	C	18	31338303	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0353622983003299	0.15
18	28918266	T	G	18	31338303	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.974452631474487	0.762
18	28918267	T	A	18	31338304	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.994122049925249	0.706
18	28918267	T	C	18	31338304	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.216238883845709	0.266
18	28918267	T	G	18	31338304	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.994987023899976	0.654
18	28918268	T	A	18	31338305	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.9895115221269	0.79
18	28918268	T	C	18	31338305	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0106301343649974	0.158
18	28918268	T	G	18	31338305	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.993079664463452	0.864
18	28918269	C	A	18	31338306	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00325285997850172	0.236
18	28918269	C	G	18	31338306	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00378545863875919	0.304
18	28918269	C	T	18	31338306	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.5499875770712E-4	0.214
18	28918270	A	C	18	31338307	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0185395234990218	0.144
18	28918270	A	G	18	31338307	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.174457189907386	0.306
18	28918270	A	T	18	31338307	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0186491097329923	0.156
18	28918271	A	C	18	31338308	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00293830247061554	0.026
18	28918271	A	G	18	31338308	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.998758746883673	0.868
18	28918271	A	T	18	31338308	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00293830247061554	0.042
18	28918272	A	C	18	31338309	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00293830247061554	0.036
18	28918272	A	G	18	31338309	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.998758746883673	0.834
18	28918272	A	T	18	31338309	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0021100721264123	0.054
18	28918273	T	A	18	31338310	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.16100487561113	0.292
18	28918273	T	C	18	31338310	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.87477027873355E-4	0.046
18	28918273	T	G	18	31338310	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.99762740138517	0.814
18	28918274	A	C	18	31338311	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.29681068578187E-5	0.04
18	28918274	A	G	18	31338311	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.3107135600172E-4	0.04
18	28918274	A	T	18	31338311	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0014402135645463	0.06
18	28918275	C	A	18	31338312	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.93684055151517	0.706
18	28918275	C	G	18	31338312	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999898319717392	0.976
18	28918275	C	T	18	31338312	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00450092812613844	0.048
18	28918276	A	C	18	31338313	y	y	splicing	DSG1(NM_001942:exon10:c.1266-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1266-2A>C)	.	.	0.999988247793601	0.936
18	28918276	A	G	18	31338313	y	y	splicing	DSG1(NM_001942:exon10:c.1266-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1266-2A>G)	.	.	0.999988247793601	0.936
18	28918276	A	T	18	31338313	y	y	splicing	DSG1(NM_001942:exon10:c.1266-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1266-2A>T)	.	.	0.999988247793601	0.938
18	28918277	G	A	18	31338314	y	y	splicing	DSG1(NM_001942:exon10:c.1266-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1266-1G>A)	.	.	0.999990361384395	0.944
18	28918277	G	C	18	31338314	y	y	splicing	DSG1(NM_001942:exon10:c.1266-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1266-1G>C)	.	.	0.999990361384395	0.944
18	28918277	G	T	18	31338314	y	y	splicing	DSG1(NM_001942:exon10:c.1266-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1266-1G>T)	.	.	0.999990361384395	0.944
18	28918278	G	A	18	31338315	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon10:c.G1266A:p.R422R;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.G1266A:p.R422R;	0.00813407561270286	0.14
18	28918278	G	C	18	31338315	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.G1266C:p.R422S;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.G1266C:p.R422S;	0.751396586317955	0.48
18	28918278	G	T	18	31338315	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.G1266T:p.R422S;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.G1266T:p.R422S;	0.989689849567202	0.686
18	28918279	T	A	18	31338316	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.T1267A:p.Y423N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.T1267A:p.Y423N;	0.87826020548679	0.468
18	28918279	T	C	18	31338316	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.T1267C:p.Y423H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.T1267C:p.Y423H;	0.85961602285038	0.49
18	28918279	T	G	18	31338316	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.T1267G:p.Y423D;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.T1267G:p.Y423D;	0.85961602285038	0.4
18	28918415	A	C	18	31338452	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.A1403C:p.D468A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.A1403C:p.D468A;	0.835469120192995	0.584
18	28918415	A	G	18	31338452	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.A1403G:p.D468G;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.A1403G:p.D468G;	0.568755655367135	0.528
18	28918415	A	T	18	31338452	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.A1403T:p.D468V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.A1403T:p.D468V;	0.961040435289948	0.624
18	28918416	T	A	18	31338453	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.T1404A:p.D468E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.T1404A:p.D468E;	0.00170454372829701	0.144
18	28918416	T	C	18	31338453	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon10:c.T1404C:p.D468D;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.T1404C:p.D468D;	0.00128350831486883	0.032
18	28918416	T	G	18	31338453	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.T1404G:p.D468E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.T1404G:p.D468E;	0.0185023806327173	0.094
18	28918417	G	A	18	31338454	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.G1405A:p.D469N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.G1405A:p.D469N;	0.999989788026261	0.992
18	28918417	G	C	18	31338454	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.G1405C:p.D469H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.G1405C:p.D469H;	0.999994944523812	0.974
18	28918417	G	T	18	31338454	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon10:c.G1405T:p.D469Y;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon10:c.G1405T:p.D469Y;	0.999993937303208	0.998
18	28918418	G	A	18	31338455	y	y	splicing	DSG1(NM_001942:exon10:c.1405+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1405+1G>A)	.	.	0.999990361384395	0.938
18	28918418	G	C	18	31338455	y	y	splicing	DSG1(NM_001942:exon10:c.1405+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1405+1G>C)	.	.	0.999990361384395	0.938
18	28918418	G	T	18	31338455	y	y	splicing	DSG1(NM_001942:exon10:c.1405+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1405+1G>T)	.	.	0.999990361384395	0.938
18	28918419	T	A	18	31338456	y	y	splicing	DSG1(NM_001942:exon10:c.1405+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1405+2T>A)	.	.	0.999988247793601	0.932
18	28918419	T	C	18	31338456	y	y	splicing	DSG1(NM_001942:exon10:c.1405+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1405+2T>C)	.	.	0.99991522016916	0.894
18	28918419	T	G	18	31338456	y	y	splicing	DSG1(NM_001942:exon10:c.1405+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon10:c.1405+2T>G)	.	.	0.999988247793601	0.932
18	28918420	A	C	18	31338457	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.998910680985491	0.9
18	28918420	A	G	18	31338457	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.878711308638933	0.628
18	28918420	A	T	18	31338457	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999015236419017	0.964
18	28918421	A	C	18	31338458	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.968654812759838	0.632
18	28918421	A	G	18	31338458	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.91797485336025	0.686
18	28918421	A	T	18	31338458	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.986386971838973	0.852
18	28918422	G	A	18	31338459	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.997920532656456	0.892
18	28918422	G	C	18	31338459	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.996429872569419	0.858
18	28918422	G	T	18	31338459	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.990945073031526	0.742
18	28918423	A	C	18	31338460	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00111293869449125	0.026
18	28918423	A	G	18	31338460	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.6284400034007E-4	0.0
18	28918423	A	T	18	31338460	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.92801195329938E-5	0.018
18	28918424	A	C	18	31338461	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.30830116709491E-5	0.0
18	28918424	A	G	18	31338461	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.36270433396092E-5	0.0
18	28918424	A	T	18	31338461	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.49837919730984E-5	0.004
18	28918425	A	C	18	31338462	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.74943831272058E-5	0.016
18	28918425	A	G	18	31338462	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	4.9592890367356E-5	0.026
18	28918425	A	T	18	31338462	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.62357603846932E-5	0.02
18	28919695	A	C	18	31339732	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.09206419558653E-4	0.03
18	28919695	A	G	18	31339732	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.997465170877932	0.914
18	28919695	A	T	18	31339732	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.95762665692416E-4	0.032
18	28919696	C	A	18	31339733	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999744865709388	0.934
18	28919696	C	G	18	31339733	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999744865709388	0.936
18	28919696	C	T	18	31339733	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.71641570339139E-5	0.0
18	28919697	G	A	18	31339734	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00179499017795559	0.038
18	28919697	G	C	18	31339734	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.06481237244302E-5	0.006
18	28919697	G	T	18	31339734	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	3.00684534904205E-5	0.008
18	28919698	T	A	18	31339735	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0334499547393687	0.424
18	28919698	T	C	18	31339735	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.0013016603369807	0.034
18	28919698	T	G	18	31339735	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00449630999066111	0.294
18	28919699	T	A	18	31339736	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.550588177786416	0.576
18	28919699	T	C	18	31339736	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	7.77010289981302E-4	0.008
18	28919699	T	G	18	31339736	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.70680810847427	0.57
18	28919700	A	C	18	31339737	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.00481182073854E-4	0.018
18	28919700	A	G	18	31339737	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.9675022858884E-4	0.018
18	28919700	A	T	18	31339737	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.00481182073854E-4	0.02
18	28919701	T	A	18	31339738	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.839209111304884	0.638
18	28919701	T	C	18	31339738	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	6.01565066852711E-4	0.074
18	28919701	T	G	18	31339738	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999930306240297	0.98
18	28919702	T	A	18	31339739	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.552590671600244	0.504
18	28919702	T	C	18	31339739	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.021521508936041	0.248
18	28919702	T	G	18	31339739	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.480710566723068	0.498
18	28919703	A	C	18	31339740	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.64746956205698E-5	0.024
18	28919703	A	G	18	31339740	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.58391339668469E-5	0.016
18	28919703	A	T	18	31339740	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	9.89744673070438E-5	0.0
18	28919704	C	A	18	31339741	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.992092559454888	0.878
18	28919704	C	G	18	31339741	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999868972061658	0.828
18	28919704	C	T	18	31339741	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00372600395773499	0.18
18	28919705	A	C	18	31339742	y	y	splicing	DSG1(NM_001942:exon11:c.1406-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1406-2A>C)	.	.	0.99995820954749	0.824
18	28919705	A	G	18	31339742	y	y	splicing	DSG1(NM_001942:exon11:c.1406-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1406-2A>G)	.	.	0.99995820954749	0.824
18	28919705	A	T	18	31339742	y	y	splicing	DSG1(NM_001942:exon11:c.1406-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1406-2A>T)	.	.	0.99995820954749	0.864
18	28919706	G	A	18	31339743	y	y	splicing	DSG1(NM_001942:exon11:c.1406-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1406-1G>A)	.	.	0.999935143098173	0.872
18	28919706	G	C	18	31339743	y	y	splicing	DSG1(NM_001942:exon11:c.1406-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1406-1G>C)	.	.	0.999935143098173	0.834
18	28919706	G	T	18	31339743	y	y	splicing	DSG1(NM_001942:exon11:c.1406-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1406-1G>T)	.	.	0.999935143098173	0.86
18	28919707	A	C	18	31339744	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.A1406C:p.D469A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.A1406C:p.D469A;	0.315037100237829	0.532
18	28919707	A	G	18	31339744	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.A1406G:p.D469G;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.A1406G:p.D469G;	0.0133726991826777	0.16
18	28919707	A	T	18	31339744	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.A1406T:p.D469V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.A1406T:p.D469V;	0.503264117626674	0.508
18	28919708	T	A	18	31339745	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.T1407A:p.D469E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.T1407A:p.D469E;	4.08969873287265E-4	0.206
18	28919708	T	C	18	31339745	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon11:c.T1407C:p.D469D;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.T1407C:p.D469D;	3.20023698575268E-4	0.074
18	28919708	T	G	18	31339745	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.T1407G:p.D469E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.T1407G:p.D469E;	0.00195308238610723	0.064
18	28919986	G	A	18	31340023	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.G1685A:p.G562E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.G1685A:p.G562E;	0.891919007946628	0.638
18	28919986	G	C	18	31340023	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.G1685C:p.G562A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.G1685C:p.G562A;	0.93975009853283	0.642
18	28919986	G	T	18	31340023	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.G1685T:p.G562V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.G1685T:p.G562V;	0.83607535433168	0.632
18	28919987	A	C	18	31340024	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon11:c.A1686C:p.G562G;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.A1686C:p.G562G;	0.0856397907382566	0.524
18	28919987	A	G	18	31340024	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon11:c.A1686G:p.G562G;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.A1686G:p.G562G;	0.0426026673646802	0.258
18	28919987	A	T	18	31340024	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon11:c.A1686T:p.G562G;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.A1686T:p.G562G;	0.070434565358999	0.49
18	28919988	T	A	18	31340025	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.T1687A:p.L563M;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.T1687A:p.L563M;	1.42523059802807E-5	0.024
18	28919988	T	C	18	31340025	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon11:c.T1687C:p.L563L;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.T1687C:p.L563L;	2.14396314710227E-4	0.116
18	28919988	T	G	18	31340025	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon11:c.T1687G:p.L563V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon11:c.T1687G:p.L563V;	1.58828991308996E-4	0.02
18	28919989	G	A	18	31340026	y	y	splicing	DSG1(NM_001942:exon11:c.1687+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1687+1G>A)	.	.	0.999974090184857	0.93
18	28919989	G	C	18	31340026	y	y	splicing	DSG1(NM_001942:exon11:c.1687+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1687+1G>C)	.	.	0.99993314117114	0.93
18	28919989	G	T	18	31340026	y	y	splicing	DSG1(NM_001942:exon11:c.1687+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1687+1G>T)	.	.	0.999963884237991	0.93
18	28919990	T	A	18	31340027	y	y	splicing	DSG1(NM_001942:exon11:c.1687+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1687+2T>A)	.	.	0.99994568797423	0.92
18	28919990	T	C	18	31340027	y	y	splicing	DSG1(NM_001942:exon11:c.1687+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1687+2T>C)	.	.	0.983733593864557	0.648
18	28919990	T	G	18	31340027	y	y	splicing	DSG1(NM_001942:exon11:c.1687+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon11:c.1687+2T>G)	.	.	0.99994568797423	0.94
18	28919991	A	C	18	31340028	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.993117830427134	0.646
18	28919991	A	G	18	31340028	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00275166213594767	0.054
18	28919991	A	T	18	31340028	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.996254679377521	0.608
18	28919992	A	C	18	31340029	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.580272395853146	0.48
18	28919992	A	G	18	31340029	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.982950594400776	0.86
18	28919992	A	T	18	31340029	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.926235548455568	0.776
18	28919993	G	A	18	31340030	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999743057893869	0.942
18	28919993	G	C	18	31340030	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.998069384342874	0.802
18	28919993	G	T	18	31340030	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.999970565890658	0.978
18	28919994	T	A	18	31340031	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.969473429141954	0.674
18	28919994	T	C	18	31340031	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.897881664416456	0.592
18	28919994	T	G	18	31340031	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.648392471474032	0.536
18	28919995	A	C	18	31340032	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	5.19071448734364E-4	0.006
18	28919995	A	G	18	31340032	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	2.94521681473452E-4	0.006
18	28919995	A	T	18	31340032	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	0.00246941553014276	0.03
18	28919996	C	A	18	31340033	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	8.29742067907464E-5	0.002
18	28919996	C	G	18	31340033	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.17988513021108E-4	0.0
18	28919996	C	T	18	31340033	y	y	intronic	DSG1	.	.	intronic	ENSG00000134760	.	.	1.17988513021108E-4	0.0
18	28923798	G	A	18	31343835	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	8.74094660865297E-5	0.0
18	28923798	G	C	18	31343835	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	7.91977281725624E-5	0.0
18	28923798	G	T	18	31343835	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	7.91977281725624E-5	0.0
18	28923799	A	C	18	31343836	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	2.33815804894828E-5	0.0
18	28923799	A	G	18	31343836	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	2.33815804894828E-5	0.0
18	28923799	A	T	18	31343836	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	2.33815804894828E-5	0.0
18	28923800	G	A	18	31343837	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	3.69930370103191E-5	0.0
18	28923800	G	C	18	31343837	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	3.69930370103191E-5	0.0
18	28923800	G	T	18	31343837	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_UTR5	ENSG00000134760	.	.	3.69930370103191E-5	0.0
18	28923801	G	A	18	31343838	n	y	ncRNA_intronic	RP11-534N16.1	.	.	splicing	ENSG00000134760	.	.	9.27237026149931E-5	0.006
18	28923801	G	C	18	31343838	n	y	ncRNA_intronic	RP11-534N16.1	.	.	splicing	ENSG00000134760	.	.	1.23990001900786E-4	0.0
18	28923801	G	T	18	31343838	n	y	ncRNA_intronic	RP11-534N16.1	.	.	splicing	ENSG00000134760	.	.	1.23990001900786E-4	0.004
18	28923802	T	A	18	31343839	n	y	ncRNA_intronic	RP11-534N16.1	.	.	splicing	ENSG00000134760	.	.	8.65778582306901E-5	0.0
18	28923802	T	C	18	31343839	n	y	ncRNA_intronic	RP11-534N16.1	.	.	splicing	ENSG00000134760	.	.	8.65778582306901E-5	0.0
18	28923802	T	G	18	31343839	n	y	ncRNA_intronic	RP11-534N16.1	.	.	splicing	ENSG00000134760	.	.	8.65778582306901E-5	0.0
18	28923803	A	C	18	31343840	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.45170072801036E-5	0.008
18	28923803	A	G	18	31343840	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.45170072801036E-5	0.008
18	28923803	A	T	18	31343840	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.39826558468951E-5	0.008
18	28923804	A	C	18	31343841	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.05918261028706E-4	0.002
18	28923804	A	G	18	31343841	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.05918261028706E-4	0.0
18	28923804	A	T	18	31343841	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.05918261028706E-4	0.0
18	28923805	T	A	18	31343842	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.5908222467397E-5	0.002
18	28923805	T	C	18	31343842	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.5908222467397E-5	0.002
18	28923805	T	G	18	31343842	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.5908222467397E-5	0.002
18	28923806	T	A	18	31343843	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.5210596949361E-4	0.006
18	28923806	T	C	18	31343843	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.28290728823224E-4	0.002
18	28923806	T	G	18	31343843	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.28290728823224E-4	0.002
18	28923807	T	A	18	31343844	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.15267776820636E-5	0.0
18	28923807	T	C	18	31343844	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.15267776820636E-5	0.0
18	28923807	T	G	18	31343844	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.15267776820636E-5	0.0
18	28923808	A	C	18	31343845	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.02038320692302E-5	0.0
18	28923808	A	G	18	31343845	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.02038320692302E-5	0.0
18	28923808	A	T	18	31343845	n	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.43726074783461E-5	0.0
18	28923877	C	A	18	31343914	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.81830458354803E-4	0.06
18	28923877	C	G	18	31343914	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.39323395894394E-4	0.042
18	28923877	C	T	18	31343914	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.81788372343905E-6	0.0
18	28923878	C	A	18	31343915	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.58232075319863E-5	0.002
18	28923878	C	G	18	31343915	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.70517494419617E-5	0.006
18	28923878	C	T	18	31343915	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.4362614662481E-5	0.0
18	28923879	T	A	18	31343916	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999630289850799	0.97
18	28923879	T	C	18	31343916	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.38907221913578E-4	0.006
18	28923879	T	G	18	31343916	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00609422539604596	0.354
18	28923880	G	A	18	31343917	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.92560997365364E-5	0.0
18	28923880	G	C	18	31343917	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.73773335868433E-5	0.0
18	28923880	G	T	18	31343917	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.73387256312691E-5	0.0
18	28923881	T	A	18	31343918	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00774074581495734	0.108
18	28923881	T	C	18	31343918	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.24711072475566E-4	0.016
18	28923881	T	G	18	31343918	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00344886054925464	0.23
18	28923882	C	A	18	31343919	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00130778108761716	0.108
18	28923882	C	G	18	31343919	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.29049399885419E-4	0.052
18	28923882	C	T	18	31343919	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.44845349177312E-4	0.0
18	28923883	T	A	18	31343920	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00178502242382157	0.066
18	28923883	T	C	18	31343920	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.34843303267348E-5	0.0
18	28923883	T	G	18	31343920	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00476188475008742	0.104
18	28923884	T	A	18	31343921	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.287986988647221	0.554
18	28923884	T	C	18	31343921	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0508754355184817	0.158
18	28923884	T	G	18	31343921	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.396846680526616	0.582
18	28923885	T	A	18	31343922	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.39331809905858E-4	0.0
18	28923885	T	C	18	31343922	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.47588690162765E-5	0.0
18	28923885	T	G	18	31343922	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.27146930922409E-4	0.0
18	28923886	T	A	18	31343923	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00159591371918216	0.17
18	28923886	T	C	18	31343923	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.09929913403849E-5	0.012
18	28923886	T	G	18	31343923	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.86087468998523	0.612
18	28923887	A	C	18	31343924	y	y	splicing	DSG1(NM_001942:exon13:c.1822-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1822-2A>C)	.	.	0.999969255906173	0.868
18	28923887	A	G	18	31343924	y	y	splicing	DSG1(NM_001942:exon13:c.1822-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1822-2A>G)	.	.	0.999969255906173	0.864
18	28923887	A	T	18	31343924	y	y	splicing	DSG1(NM_001942:exon13:c.1822-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1822-2A>T)	.	.	0.999972155025474	0.864
18	28923888	G	A	18	31343925	y	y	splicing	DSG1(NM_001942:exon13:c.1822-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1822-1G>A)	.	.	0.999974447166625	0.8
18	28923888	G	C	18	31343925	y	y	splicing	DSG1(NM_001942:exon13:c.1822-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1822-1G>C)	.	.	0.999974447166625	0.756
18	28923888	G	T	18	31343925	y	y	splicing	DSG1(NM_001942:exon13:c.1822-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1822-1G>T)	.	.	0.999974447166625	0.788
18	28923889	G	A	18	31343926	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.G1822A:p.D608N;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.G1822A:p.D608N;	0.00663596292273762	0.12
18	28923889	G	C	18	31343926	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.G1822C:p.D608H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.G1822C:p.D608H;	0.547558956479727	0.426
18	28923889	G	T	18	31343926	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.G1822T:p.D608Y;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.G1822T:p.D608Y;	0.858052389971607	0.67
18	28923890	A	C	18	31343927	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.A1823C:p.D608A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.A1823C:p.D608A;	3.68643335982883E-5	0.008
18	28923890	A	G	18	31343927	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.A1823G:p.D608G;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.A1823G:p.D608G;	1.86421015647923E-5	0.018
18	28923890	A	T	18	31343927	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.A1823T:p.D608V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.A1823T:p.D608V;	4.74214855666873E-6	0.0
18	28923956	C	A	18	31343993	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon13:c.C1889A:p.S630X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon13:c.C1889A:p.S630X;	0.170311632092398	0.57
18	28923956	C	G	18	31343993	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon13:c.C1889G:p.S630X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon13:c.C1889G:p.S630X;	0.0800106800356516	0.466
18	28923956	C	T	18	31343993	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.C1889T:p.S630L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.C1889T:p.S630L;	0.797469034344566	0.38
18	28923957	A	C	18	31343994	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon13:c.A1890C:p.S630S;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.A1890C:p.S630S;	0.162004344659168	0.498
18	28923957	A	G	18	31343994	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon13:c.A1890G:p.S630S;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.A1890G:p.S630S;	0.195524466308326	0.346
18	28923957	A	T	18	31343994	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon13:c.A1890T:p.S630S;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.A1890T:p.S630S;	0.13775804434556	0.398
18	28923958	G	A	18	31343995	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.G1891A:p.G631R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.G1891A:p.G631R;	0.99992762512155	0.976
18	28923958	G	C	18	31343995	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon13:c.G1891C:p.G631R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon13:c.G1891C:p.G631R;	0.99994076915299	0.946
18	28923958	G	T	18	31343995	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon13:c.G1891T:p.G631X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon13:c.G1891T:p.G631X;	0.999956422293088	0.948
18	28923959	G	A	18	31343996	y	y	splicing	DSG1(NM_001942:exon13:c.1891+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1891+1G>A)	.	.	0.999990361384395	0.938
18	28923959	G	C	18	31343996	y	y	splicing	DSG1(NM_001942:exon13:c.1891+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1891+1G>C)	.	.	0.999990361384395	0.938
18	28923959	G	T	18	31343996	y	y	splicing	DSG1(NM_001942:exon13:c.1891+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1891+1G>T)	.	.	0.999990361384395	0.938
18	28923960	T	A	18	31343997	y	y	splicing	DSG1(NM_001942:exon13:c.1891+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1891+2T>A)	.	.	0.999988247793601	0.93
18	28923960	T	C	18	31343997	y	y	splicing	DSG1(NM_001942:exon13:c.1891+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1891+2T>C)	.	.	0.98918007292081	0.684
18	28923960	T	G	18	31343997	y	y	splicing	DSG1(NM_001942:exon13:c.1891+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon13:c.1891+2T>G)	.	.	0.999988247793601	0.93
18	28923961	A	C	18	31343998	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.789741306516441	0.672
18	28923961	A	G	18	31343998	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00242708727477148	0.122
18	28923961	A	T	18	31343998	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.865637347299696	0.618
18	28923962	A	C	18	31343999	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.144157482535914	0.336
18	28923962	A	G	18	31343999	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.360704763025485	0.336
18	28923962	A	T	18	31343999	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.111010102148691	0.268
18	28923963	G	A	18	31344000	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.697878020745077	0.532
18	28923963	G	C	18	31344000	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.580772148801099	0.468
18	28923963	G	T	18	31344000	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.821523941921718	0.488
18	28923964	A	C	18	31344001	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.18760820266537E-4	0.036
18	28923964	A	G	18	31344001	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.72272064225867E-4	0.0
18	28923964	A	T	18	31344001	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.04666743530565E-4	0.004
18	28923965	A	C	18	31344002	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.96404089075045E-5	0.0
18	28923965	A	G	18	31344002	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.42095014750824E-5	0.0
18	28923965	A	T	18	31344002	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.21775140396569E-5	0.002
18	28923966	A	C	18	31344003	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.84729574776877E-5	0.0
18	28923966	A	G	18	31344003	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.14469246767614E-5	0.0
18	28923966	A	T	18	31344003	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.84729574776877E-5	0.002
18	28925941	C	A	18	31345978	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.8648798069466E-4	0.032
18	28925941	C	G	18	31345978	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00284106584702873	0.09
18	28925941	C	T	18	31345978	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.49765605432157E-5	0.0
18	28925942	A	C	18	31345979	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.97327365525226E-5	0.02
18	28925942	A	G	18	31345979	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.60880919718819E-5	0.012
18	28925942	A	T	18	31345979	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.82678287820569E-4	0.04
18	28925943	A	C	18	31345980	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.36888093171238E-4	0.02
18	28925943	A	G	18	31345980	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999120286332678	0.95
18	28925943	A	T	18	31345980	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.36941625240511E-4	0.028
18	28925944	C	A	18	31345981	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00173881201944846	0.144
18	28925944	C	G	18	31345981	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999914081683068	0.958
18	28925944	C	T	18	31345981	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.34921941602098E-5	0.044
18	28925945	A	C	18	31345982	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.10752742004957E-4	0.02
18	28925945	A	G	18	31345982	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.23787259965773E-4	0.01
18	28925945	A	T	18	31345982	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.10752742004957E-4	0.054
18	28925946	C	A	18	31345983	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00105941867605793	0.294
18	28925946	C	G	18	31345983	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999909557749301	0.964
18	28925946	C	T	18	31345983	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.23916588190202E-5	0.122
18	28925947	T	A	18	31345984	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.974094864923315	0.768
18	28925947	T	C	18	31345984	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.77745716728839E-4	0.07
18	28925947	T	G	18	31345984	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.951742491894763	0.774
18	28925948	T	A	18	31345985	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.997667947662899	0.78
18	28925948	T	C	18	31345985	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.342935607586673	0.282
18	28925948	T	G	18	31345985	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.995973532785379	0.756
18	28925949	T	A	18	31345986	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.82395978561113E-4	0.024
18	28925949	T	C	18	31345986	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.02264756848613E-4	0.01
18	28925949	T	G	18	31345986	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.89998016851303E-4	0.02
18	28925950	T	A	18	31345987	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00811502156814609	0.242
18	28925950	T	C	18	31345987	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.41733019309516E-5	0.0
18	28925950	T	G	18	31345987	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.304157756293548	0.54
18	28925951	A	C	18	31345988	y	y	splicing	DSG1(NM_001942:exon14:c.1892-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.1892-2A>C)	.	.	0.999979394981131	0.908
18	28925951	A	G	18	31345988	y	y	splicing	DSG1(NM_001942:exon14:c.1892-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.1892-2A>G)	.	.	0.999979394981131	0.908
18	28925951	A	T	18	31345988	y	y	splicing	DSG1(NM_001942:exon14:c.1892-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.1892-2A>T)	.	.	0.999979394981131	0.912
18	28925952	G	A	18	31345989	y	y	splicing	DSG1(NM_001942:exon14:c.1892-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.1892-1G>A)	.	.	0.999982627682474	0.91
18	28925952	G	C	18	31345989	y	y	splicing	DSG1(NM_001942:exon14:c.1892-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.1892-1G>C)	.	.	0.999982627682474	0.91
18	28925952	G	T	18	31345989	y	y	splicing	DSG1(NM_001942:exon14:c.1892-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.1892-1G>T)	.	.	0.999982627682474	0.91
18	28925953	G	A	18	31345990	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.G1892A:p.G631E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.G1892A:p.G631E;	0.999189419533837	0.808
18	28925953	G	C	18	31345990	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.G1892C:p.G631A;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.G1892C:p.G631A;	0.999789744039788	0.926
18	28925953	G	T	18	31345990	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.G1892T:p.G631V;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.G1892T:p.G631V;	0.999934730219324	0.984
18	28925954	A	C	18	31345991	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon14:c.A1893C:p.G631G;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.A1893C:p.G631G;	6.44033613704162E-4	0.034
18	28925954	A	G	18	31345991	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon14:c.A1893G:p.G631G;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.A1893G:p.G631G;	1.13880637993072E-4	0.022
18	28925954	A	T	18	31345991	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon14:c.A1893T:p.G631G;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.A1893T:p.G631G;	2.10437763955173E-4	0.084
18	28926159	C	A	18	31346196	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.C2098A:p.Q700K;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.C2098A:p.Q700K;ENSG00000134760:ENST00000462981:exon3:c.C175A:p.Q59K;	0.03155409619637	0.164
18	28926159	C	G	18	31346196	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.C2098G:p.Q700E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.C2098G:p.Q700E;ENSG00000134760:ENST00000462981:exon3:c.C175G:p.Q59E;	0.0313124094822754	0.108
18	28926159	C	T	18	31346196	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon14:c.C2098T:p.Q700X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon14:c.C2098T:p.Q700X;ENSG00000134760:ENST00000462981:exon3:c.C175T:p.Q59X;	0.998606299416793	0.812
18	28926160	A	C	18	31346197	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.A2099C:p.Q700P;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.A2099C:p.Q700P;ENSG00000134760:ENST00000462981:exon3:c.A176C:p.Q59P;	0.761745514757238	0.57
18	28926160	A	G	18	31346197	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.A2099G:p.Q700R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.A2099G:p.Q700R;ENSG00000134760:ENST00000462981:exon3:c.A176G:p.Q59R;	0.820405535216585	0.612
18	28926160	A	T	18	31346197	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.A2099T:p.Q700L;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.A2099T:p.Q700L;ENSG00000134760:ENST00000462981:exon3:c.A176T:p.Q59L;	0.818054306686965	0.47
18	28926161	G	A	18	31346198	y	y	exonic	DSG1	synonymous SNV	DSG1:NM_001942:exon14:c.G2100A:p.Q700Q;	exonic	ENSG00000134760	synonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.G2100A:p.Q700Q;ENSG00000134760:ENST00000462981:exon3:c.G177A:p.Q59Q;	0.999614757583083	0.932
18	28926161	G	C	18	31346198	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.G2100C:p.Q700H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.G2100C:p.Q700H;ENSG00000134760:ENST00000462981:exon3:c.G177C:p.Q59H;	0.998691172547993	0.894
18	28926161	G	T	18	31346198	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon14:c.G2100T:p.Q700H;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon14:c.G2100T:p.Q700H;ENSG00000134760:ENST00000462981:exon3:c.G177T:p.Q59H;	0.998884618474184	0.924
18	28926162	G	A	18	31346199	y	y	splicing	DSG1(NM_001942:exon14:c.2100+1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.2100+1G>A;ENST00000462981:exon3:c.177+1G>A)	.	.	0.999990361384395	0.938
18	28926162	G	C	18	31346199	y	y	splicing	DSG1(NM_001942:exon14:c.2100+1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.2100+1G>C;ENST00000462981:exon3:c.177+1G>C)	.	.	0.999990361384395	0.938
18	28926162	G	T	18	31346199	y	y	splicing	DSG1(NM_001942:exon14:c.2100+1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.2100+1G>T;ENST00000462981:exon3:c.177+1G>T)	.	.	0.999990361384395	0.938
18	28926163	T	A	18	31346200	y	y	splicing	DSG1(NM_001942:exon14:c.2100+2T>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.2100+2T>A;ENST00000462981:exon3:c.177+2T>A)	.	.	0.999988247793601	0.926
18	28926163	T	C	18	31346200	y	y	splicing	DSG1(NM_001942:exon14:c.2100+2T>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.2100+2T>C;ENST00000462981:exon3:c.177+2T>C)	.	.	0.99300144780371	0.702
18	28926163	T	G	18	31346200	y	y	splicing	DSG1(NM_001942:exon14:c.2100+2T>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon14:c.2100+2T>G;ENST00000462981:exon3:c.177+2T>G)	.	.	0.999978952611685	0.928
18	28926164	A	C	18	31346201	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.995263386483758	0.926
18	28926164	A	G	18	31346201	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.216779168947488	0.292
18	28926164	A	T	18	31346201	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.996127232354783	0.91
18	28926165	A	C	18	31346202	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.641635006238988	0.6
18	28926165	A	G	18	31346202	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.790908057996623	0.564
18	28926165	A	T	18	31346202	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.73330557678813	0.616
18	28926166	G	A	18	31346203	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.477650439939621	0.502
18	28926166	G	C	18	31346203	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.251336128541709	0.374
18	28926166	G	T	18	31346203	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.467434395096434	0.456
18	28926167	G	A	18	31346204	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.44398081501588E-5	0.0
18	28926167	G	C	18	31346204	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.12224748234656E-5	0.0
18	28926167	G	T	18	31346204	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.60469022502353E-5	0.0
18	28926168	T	A	18	31346205	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.28447134163355E-5	0.0
18	28926168	T	C	18	31346205	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.15218178024102E-5	0.0
18	28926168	T	G	18	31346205	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.24975915077222E-5	0.0
18	28926169	C	A	18	31346206	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.31537028708659E-5	0.0
18	28926169	C	G	18	31346206	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.31537028708659E-5	0.0
18	28926169	C	T	18	31346206	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.31537028708659E-5	0.0
18	28934248	C	A	18	31354285	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.94692495289098E-4	0.122
18	28934248	C	G	18	31354285	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.14915448500939E-4	0.126
18	28934248	C	T	18	31354285	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.11626069477993E-4	0.028
18	28934249	T	A	18	31354286	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0224924535826665	0.494
18	28934249	T	C	18	31354286	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.81806292531983E-5	0.122
18	28934249	T	G	18	31354286	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0517025788011559	0.464
18	28934250	A	C	18	31354287	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.73585780968525E-5	0.0
18	28934250	A	G	18	31354287	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.32640534106642E-5	0.042
18	28934250	A	T	18	31354287	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.73585780968525E-5	0.0
18	28934251	T	A	18	31354288	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00206230575627368	0.19
18	28934251	T	C	18	31354288	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.07111738165632E-5	0.042
18	28934251	T	G	18	31354288	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.985051021375003	0.936
18	28934252	A	C	18	31354289	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.92621945616849E-6	0.0
18	28934252	A	G	18	31354289	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.38596173273362E-6	0.0
18	28934252	A	T	18	31354289	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.06552985083768E-6	0.0
18	28934253	A	C	18	31354290	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.5564009764448E-5	0.004
18	28934253	A	G	18	31354290	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.996689416772675	0.976
18	28934253	A	T	18	31354290	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.5564009764448E-5	0.01
18	28934254	A	C	18	31354291	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.97004403314914E-5	0.008
18	28934254	A	G	18	31354291	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.99697859335143	0.97
18	28934254	A	T	18	31354291	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.78103552012141E-5	0.022
18	28934255	T	A	18	31354292	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.550026331056481	0.442
18	28934255	T	C	18	31354292	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0230937289082412	0.34
18	28934255	T	G	18	31354292	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999713916772695	0.916
18	28934256	T	A	18	31354293	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.98315675392449E-5	0.004
18	28934256	T	C	18	31354293	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.32505397831658E-5	0.024
18	28934256	T	G	18	31354293	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.74426949468437E-5	0.016
18	28934257	C	A	18	31354294	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.721067873027792	0.716
18	28934257	C	G	18	31354294	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.958844506727479	0.688
18	28934257	C	T	18	31354294	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.17777811292828E-5	0.136
18	28934258	A	C	18	31354295	y	y	splicing	DSG1(NM_001942:exon15:c.2101-2A>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon15:c.2101-2A>C;ENST00000462981:exon4:c.178-2A>C)	.	.	0.999888596551852	0.916
18	28934258	A	G	18	31354295	y	y	splicing	DSG1(NM_001942:exon15:c.2101-2A>G)	.	.	splicing	ENSG00000134760(ENST00000257192:exon15:c.2101-2A>G;ENST00000462981:exon4:c.178-2A>G)	.	.	0.999888596551852	0.916
18	28934258	A	T	18	31354295	y	y	splicing	DSG1(NM_001942:exon15:c.2101-2A>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon15:c.2101-2A>T;ENST00000462981:exon4:c.178-2A>T)	.	.	0.999791347735344	0.918
18	28934259	G	A	18	31354296	y	y	splicing	DSG1(NM_001942:exon15:c.2101-1G>A)	.	.	splicing	ENSG00000134760(ENST00000257192:exon15:c.2101-1G>A;ENST00000462981:exon4:c.178-1G>A)	.	.	0.999973008492926	0.898
18	28934259	G	C	18	31354296	y	y	splicing	DSG1(NM_001942:exon15:c.2101-1G>C)	.	.	splicing	ENSG00000134760(ENST00000257192:exon15:c.2101-1G>C;ENST00000462981:exon4:c.178-1G>C)	.	.	0.999973008492926	0.902
18	28934259	G	T	18	31354296	y	y	splicing	DSG1(NM_001942:exon15:c.2101-1G>T)	.	.	splicing	ENSG00000134760(ENST00000257192:exon15:c.2101-1G>T;ENST00000462981:exon4:c.178-1G>T)	.	.	0.999973008492926	0.902
18	28934260	A	C	18	31354297	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon15:c.A2101C:p.K701Q;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon15:c.A2101C:p.K701Q;ENSG00000134760:ENST00000462981:exon4:c.A178C:p.K60Q;	0.115375381155825	0.324
18	28934260	A	G	18	31354297	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon15:c.A2101G:p.K701E;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon15:c.A2101G:p.K701E;ENSG00000134760:ENST00000462981:exon4:c.A178G:p.K60E;	0.00144438669252991	0.036
18	28934260	A	T	18	31354297	y	y	exonic	DSG1	stopgain SNV	DSG1:NM_001942:exon15:c.A2101T:p.K701X;	exonic	ENSG00000134760	stopgain SNV	ENSG00000134760:ENST00000257192:exon15:c.A2101T:p.K701X;ENSG00000134760:ENST00000462981:exon4:c.A178T:p.K60X;	0.638391536079101	0.58
18	28934261	A	C	18	31354298	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon15:c.A2102C:p.K701T;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon15:c.A2102C:p.K701T;ENSG00000134760:ENST00000462981:exon4:c.A179C:p.K60T;	0.00337922342860498	0.134
18	28934261	A	G	18	31354298	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon15:c.A2102G:p.K701R;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon15:c.A2102G:p.K701R;ENSG00000134760:ENST00000462981:exon4:c.A179G:p.K60R;	0.01922935615117	0.032
18	28934261	A	T	18	31354298	y	y	exonic	DSG1	nonsynonymous SNV	DSG1:NM_001942:exon15:c.A2102T:p.K701I;	exonic	ENSG00000134760	nonsynonymous SNV	ENSG00000134760:ENST00000257192:exon15:c.A2102T:p.K701I;ENSG00000134760:ENST00000462981:exon4:c.A179T:p.K60I;	0.00328004302436332	0.056
18	28956920	A	C	18	31376957	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.A46C:p.M16L;DSG4:NM_001134453:exon1:c.A46C:p.M16L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.A46C:p.M16L;ENSG00000175065:ENST00000308128:exon1:c.A46C:p.M16L;	1.35465296786606E-5	0.002
18	28956920	A	G	18	31376957	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.A46G:p.M16V;DSG4:NM_001134453:exon1:c.A46G:p.M16V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.A46G:p.M16V;ENSG00000175065:ENST00000308128:exon1:c.A46G:p.M16V;	3.0042041031523E-5	0.004
18	28956920	A	T	18	31376957	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.A46T:p.M16L;DSG4:NM_001134453:exon1:c.A46T:p.M16L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.A46T:p.M16L;ENSG00000175065:ENST00000308128:exon1:c.A46T:p.M16L;	5.19344371004114E-5	0.09
18	28956921	T	A	18	31376958	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.T47A:p.M16K;DSG4:NM_001134453:exon1:c.T47A:p.M16K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.T47A:p.M16K;ENSG00000175065:ENST00000308128:exon1:c.T47A:p.M16K;	2.25659586860097E-4	0.128
18	28956921	T	C	18	31376958	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.T47C:p.M16T;DSG4:NM_001134453:exon1:c.T47C:p.M16T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.T47C:p.M16T;ENSG00000175065:ENST00000308128:exon1:c.T47C:p.M16T;	9.69826786174517E-5	0.004
18	28956921	T	G	18	31376958	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.T47G:p.M16R;DSG4:NM_001134453:exon1:c.T47G:p.M16R;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.T47G:p.M16R;ENSG00000175065:ENST00000308128:exon1:c.T47G:p.M16R;	0.00115700023232757	0.03
18	28956922	G	A	18	31376959	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.G48A:p.M16I;DSG4:NM_001134453:exon1:c.G48A:p.M16I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.G48A:p.M16I;ENSG00000175065:ENST00000308128:exon1:c.G48A:p.M16I;	0.893946171463122	0.468
18	28956922	G	C	18	31376959	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.G48C:p.M16I;DSG4:NM_001134453:exon1:c.G48C:p.M16I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.G48C:p.M16I;ENSG00000175065:ENST00000308128:exon1:c.G48C:p.M16I;	0.991015647780489	0.636
18	28956922	G	T	18	31376959	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon1:c.G48T:p.M16I;DSG4:NM_001134453:exon1:c.G48T:p.M16I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon1:c.G48T:p.M16I;ENSG00000175065:ENST00000308128:exon1:c.G48T:p.M16I;	0.989900082697023	0.62
18	28956923	G	A	18	31376960	y	y	splicing	DSG4(NM_001134453:exon1:c.48+1G>A;NM_177986:exon1:c.48+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon1:c.48+1G>A;ENST00000359747:exon1:c.48+1G>A)	.	.	0.99995586615188	0.916
18	28956923	G	C	18	31376960	y	y	splicing	DSG4(NM_001134453:exon1:c.48+1G>C;NM_177986:exon1:c.48+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon1:c.48+1G>C;ENST00000359747:exon1:c.48+1G>C)	.	.	0.999971209564868	0.938
18	28956923	G	T	18	31376960	y	y	splicing	DSG4(NM_001134453:exon1:c.48+1G>T;NM_177986:exon1:c.48+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon1:c.48+1G>T;ENST00000359747:exon1:c.48+1G>T)	.	.	0.99995586615188	0.94
18	28956924	T	A	18	31376961	y	y	splicing	DSG4(NM_001134453:exon1:c.48+2T>A;NM_177986:exon1:c.48+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon1:c.48+2T>A;ENST00000359747:exon1:c.48+2T>A)	.	.	0.999946188727699	0.946
18	28956924	T	C	18	31376961	y	y	splicing	DSG4(NM_001134453:exon1:c.48+2T>C;NM_177986:exon1:c.48+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon1:c.48+2T>C;ENST00000359747:exon1:c.48+2T>C)	.	.	0.969562536154668	0.678
18	28956924	T	G	18	31376961	y	y	splicing	DSG4(NM_001134453:exon1:c.48+2T>G;NM_177986:exon1:c.48+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon1:c.48+2T>G;ENST00000359747:exon1:c.48+2T>G)	.	.	0.999946188727699	0.932
18	28956925	A	C	18	31376962	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994854259071658	0.65
18	28956925	A	G	18	31376962	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00147814282432808	0.072
18	28956925	A	T	18	31376962	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.74224791712048	0.588
18	28956926	A	C	18	31376963	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.736552262832375	0.588
18	28956926	A	G	18	31376963	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.953783677485389	0.592
18	28956926	A	T	18	31376963	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.778836643475314	0.588
18	28956927	G	A	18	31376964	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999650392565049	0.894
18	28956927	G	C	18	31376964	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999785857004289	0.828
18	28956927	G	T	18	31376964	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999766490999921	0.89
18	28956928	T	A	18	31376965	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.257282360776433	0.472
18	28956928	T	C	18	31376965	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.290493836485966	0.452
18	28956928	T	G	18	31376965	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.191225573417179	0.38
18	28956929	A	C	18	31376966	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.53397514882839E-5	0.0
18	28956929	A	G	18	31376966	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.86075475573093E-5	0.0
18	28956929	A	T	18	31376966	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.06520082605731E-4	0.0
18	28956930	G	A	18	31376967	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.75289494538373E-5	0.002
18	28956930	G	C	18	31376967	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.42532840084784E-5	0.0
18	28956930	G	T	18	31376967	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.42532840084784E-5	0.0
18	28965087	C	A	18	31385124	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.06667539839438E-4	0.058
18	28965087	C	G	18	31385124	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.15782409638258E-4	0.096
18	28965087	C	T	18	31385124	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.55812028331466E-5	0.002
18	28965088	T	A	18	31385125	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.184325985276107	0.548
18	28965088	T	C	18	31385125	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00211021789449276	0.132
18	28965088	T	G	18	31385125	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.403419681468633	0.502
18	28965089	A	C	18	31385126	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.70051921007176E-5	0.008
18	28965089	A	G	18	31385126	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.68519876774553E-5	0.024
18	28965089	A	T	18	31385126	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.14054017373883E-5	0.022
18	28965090	T	A	18	31385127	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.831555887595565	0.698
18	28965090	T	C	18	31385127	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00858606358229678	0.066
18	28965090	T	G	18	31385127	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999922385357615	0.982
18	28965091	C	A	18	31385128	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.89170417107255E-4	0.046
18	28965091	C	G	18	31385128	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00119188970585658	0.098
18	28965091	C	T	18	31385128	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.40869178698013E-5	0.052
18	28965092	A	C	18	31385129	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.8261699491418E-5	0.018
18	28965092	A	G	18	31385129	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.13902752652155E-4	0.016
18	28965092	A	T	18	31385129	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.94026952356761E-5	0.034
18	28965093	A	C	18	31385130	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.71001110882769E-5	0.016
18	28965093	A	G	18	31385130	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.995949032327174	0.952
18	28965093	A	T	18	31385130	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.33031015026436E-5	0.028
18	28965094	A	C	18	31385131	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.27384345575667E-4	0.076
18	28965094	A	G	18	31385131	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998908614846414	0.988
18	28965094	A	T	18	31385131	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.29794511361094E-4	0.07
18	28965095	A	C	18	31385132	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00939447805449495	0.092
18	28965095	A	G	18	31385132	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.996669383157191	0.854
18	28965095	A	T	18	31385132	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0195125915484775	0.116
18	28965096	C	A	18	31385133	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.997430098298064	0.858
18	28965096	C	G	18	31385133	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999687052145915	0.806
18	28965096	C	T	18	31385133	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0526489326162193	0.192
18	28965097	A	C	18	31385134	y	y	splicing	DSG4(NM_001134453:exon2:c.49-2A>C;NM_177986:exon2:c.49-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.49-2A>C;ENST00000359747:exon2:c.49-2A>C)	.	.	0.999990503154465	0.93
18	28965097	A	G	18	31385134	y	y	splicing	DSG4(NM_001134453:exon2:c.49-2A>G;NM_177986:exon2:c.49-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.49-2A>G;ENST00000359747:exon2:c.49-2A>G)	.	.	0.999990503154465	0.93
18	28965097	A	T	18	31385134	y	y	splicing	DSG4(NM_001134453:exon2:c.49-2A>T;NM_177986:exon2:c.49-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.49-2A>T;ENST00000359747:exon2:c.49-2A>T)	.	.	0.999992689121502	0.932
18	28965098	G	A	18	31385135	y	y	splicing	DSG4(NM_001134453:exon2:c.49-1G>A;NM_177986:exon2:c.49-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.49-1G>A;ENST00000359747:exon2:c.49-1G>A)	.	.	0.999986741007567	0.938
18	28965098	G	C	18	31385135	y	y	splicing	DSG4(NM_001134453:exon2:c.49-1G>C;NM_177986:exon2:c.49-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.49-1G>C;ENST00000359747:exon2:c.49-1G>C)	.	.	0.999981537975149	0.936
18	28965098	G	T	18	31385135	y	y	splicing	DSG4(NM_001134453:exon2:c.49-1G>T;NM_177986:exon2:c.49-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.49-1G>T;ENST00000359747:exon2:c.49-1G>T)	.	.	0.999986741007567	0.938
18	28965099	G	A	18	31385136	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.G49A:p.V17M;DSG4:NM_001134453:exon2:c.G49A:p.V17M;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.G49A:p.V17M;ENSG00000175065:ENST00000308128:exon2:c.G49A:p.V17M;	0.954606998054186	0.726
18	28965099	G	C	18	31385136	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.G49C:p.V17L;DSG4:NM_001134453:exon2:c.G49C:p.V17L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.G49C:p.V17L;ENSG00000175065:ENST00000308128:exon2:c.G49C:p.V17L;	0.926315048345618	0.852
18	28965099	G	T	18	31385136	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.G49T:p.V17L;DSG4:NM_001134453:exon2:c.G49T:p.V17L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.G49T:p.V17L;ENSG00000175065:ENST00000308128:exon2:c.G49T:p.V17L;	0.990602033000495	0.934
18	28965100	T	A	18	31385137	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.T50A:p.V17E;DSG4:NM_001134453:exon2:c.T50A:p.V17E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.T50A:p.V17E;ENSG00000175065:ENST00000308128:exon2:c.T50A:p.V17E;	0.673927426041565	0.436
18	28965100	T	C	18	31385137	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.T50C:p.V17A;DSG4:NM_001134453:exon2:c.T50C:p.V17A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.T50C:p.V17A;ENSG00000175065:ENST00000308128:exon2:c.T50C:p.V17A;	0.42969151147537	0.402
18	28965100	T	G	18	31385137	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.T50G:p.V17G;DSG4:NM_001134453:exon2:c.T50G:p.V17G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.T50G:p.V17G;ENSG00000175065:ENST00000308128:exon2:c.T50G:p.V17G;	0.451397312688702	0.424
18	28965132	G	A	18	31385169	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.G82A:p.E28K;DSG4:NM_001134453:exon2:c.G82A:p.E28K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.G82A:p.E28K;ENSG00000175065:ENST00000308128:exon2:c.G82A:p.E28K;	0.112823122564352	0.394
18	28965132	G	C	18	31385169	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.G82C:p.E28Q;DSG4:NM_001134453:exon2:c.G82C:p.E28Q;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.G82C:p.E28Q;ENSG00000175065:ENST00000308128:exon2:c.G82C:p.E28Q;	0.00124920851636604	0.006
18	28965132	G	T	18	31385169	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon2:c.G82T:p.E28X;DSG4:NM_001134453:exon2:c.G82T:p.E28X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon2:c.G82T:p.E28X;ENSG00000175065:ENST00000308128:exon2:c.G82T:p.E28X;	0.994143820016051	0.67
18	28965133	A	C	18	31385170	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.A83C:p.E28A;DSG4:NM_001134453:exon2:c.A83C:p.E28A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.A83C:p.E28A;ENSG00000175065:ENST00000308128:exon2:c.A83C:p.E28A;	0.999661284841253	0.978
18	28965133	A	G	18	31385170	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.A83G:p.E28G;DSG4:NM_001134453:exon2:c.A83G:p.E28G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.A83G:p.E28G;ENSG00000175065:ENST00000308128:exon2:c.A83G:p.E28G;	0.999855221836006	0.97
18	28965133	A	T	18	31385170	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.A83T:p.E28V;DSG4:NM_001134453:exon2:c.A83T:p.E28V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.A83T:p.E28V;ENSG00000175065:ENST00000308128:exon2:c.A83T:p.E28V;	0.999877657851342	0.994
18	28965134	G	A	18	31385171	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon2:c.G84A:p.E28E;DSG4:NM_001134453:exon2:c.G84A:p.E28E;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.G84A:p.E28E;ENSG00000175065:ENST00000308128:exon2:c.G84A:p.E28E;	0.999977780687969	0.996
18	28965134	G	C	18	31385171	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.G84C:p.E28D;DSG4:NM_001134453:exon2:c.G84C:p.E28D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.G84C:p.E28D;ENSG00000175065:ENST00000308128:exon2:c.G84C:p.E28D;	0.99999502191649	1.0
18	28965134	G	T	18	31385171	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon2:c.G84T:p.E28D;DSG4:NM_001134453:exon2:c.G84T:p.E28D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon2:c.G84T:p.E28D;ENSG00000175065:ENST00000308128:exon2:c.G84T:p.E28D;	0.999987025681288	1.0
18	28965135	G	A	18	31385172	y	y	splicing	DSG4(NM_001134453:exon2:c.84+1G>A;NM_177986:exon2:c.84+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.84+1G>A;ENST00000359747:exon2:c.84+1G>A)	.	.	0.999988247793601	0.952
18	28965135	G	C	18	31385172	y	y	splicing	DSG4(NM_001134453:exon2:c.84+1G>C;NM_177986:exon2:c.84+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.84+1G>C;ENST00000359747:exon2:c.84+1G>C)	.	.	0.999988247793601	0.952
18	28965135	G	T	18	31385172	y	y	splicing	DSG4(NM_001134453:exon2:c.84+1G>T;NM_177986:exon2:c.84+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.84+1G>T;ENST00000359747:exon2:c.84+1G>T)	.	.	0.999988247793601	0.952
18	28965136	T	A	18	31385173	y	y	splicing	DSG4(NM_001134453:exon2:c.84+2T>A;NM_177986:exon2:c.84+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.84+2T>A;ENST00000359747:exon2:c.84+2T>A)	.	.	0.999993519952936	0.948
18	28965136	T	C	18	31385173	y	y	splicing	DSG4(NM_001134453:exon2:c.84+2T>C;NM_177986:exon2:c.84+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.84+2T>C;ENST00000359747:exon2:c.84+2T>C)	.	.	0.989490785358834	0.59
18	28965136	T	G	18	31385173	y	y	splicing	DSG4(NM_001134453:exon2:c.84+2T>G;NM_177986:exon2:c.84+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon2:c.84+2T>G;ENST00000359747:exon2:c.84+2T>G)	.	.	0.999993519952936	0.948
18	28965137	A	C	18	31385174	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999965670619368	0.992
18	28965137	A	G	18	31385174	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998913338576008	0.952
18	28965137	A	T	18	31385174	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999935698713574	0.99
18	28965138	A	C	18	31385175	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.957476701138564	0.71
18	28965138	A	G	18	31385175	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998179450996703	0.922
18	28965138	A	T	18	31385175	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.979830929815745	0.734
18	28965139	T	A	18	31385176	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00589449624186245	0.022
18	28965139	T	C	18	31385176	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00385288941608226	0.044
18	28965139	T	G	18	31385176	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.54571384339695E-4	0.062
18	28965140	G	A	18	31385177	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0228632525701937	0.162
18	28965140	G	C	18	31385177	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0195042735603529	0.256
18	28965140	G	T	18	31385177	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.61871648388588E-4	0.012
18	28965141	T	A	18	31385178	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0119614884213924	0.054
18	28965141	T	C	18	31385178	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00671406159760958	0.046
18	28965141	T	G	18	31385178	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00753701854437567	0.044
18	28965142	A	C	18	31385179	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00105034676216468	0.054
18	28965142	A	G	18	31385179	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00266978882808726	0.006
18	28965142	A	T	18	31385179	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.68654433961528E-4	0.01
18	28966639	T	A	18	31386676	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0113016472317224	0.48
18	28966639	T	C	18	31386676	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00298899567654876	0.118
18	28966639	T	G	18	31386676	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999977166587103	0.968
18	28966640	T	A	18	31386677	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.940413665395502	0.734
18	28966640	T	C	18	31386677	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0406018751988215	0.148
18	28966640	T	G	18	31386677	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.308042871778682	0.554
18	28966641	T	A	18	31386678	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.844596222995435	0.664
18	28966641	T	C	18	31386678	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00489792396659958	0.112
18	28966641	T	G	18	31386678	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.612076540076016	0.556
18	28966642	T	A	18	31386679	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.287894969887115	0.562
18	28966642	T	C	18	31386679	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00166960841492789	0.064
18	28966642	T	G	18	31386679	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.075769978064163	0.552
18	28966643	T	A	18	31386680	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999743290791548	0.964
18	28966643	T	C	18	31386680	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.53707910873266E-4	0.008
18	28966643	T	G	18	31386680	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00388436120805598	0.156
18	28966644	G	A	18	31386681	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00231177907384008	0.078
18	28966644	G	C	18	31386681	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0018548596411787	0.054
18	28966644	G	T	18	31386681	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00120443613802875	0.036
18	28966645	C	A	18	31386682	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0110382839441803	0.338
18	28966645	C	G	18	31386682	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.63127668292171E-4	0.264
18	28966645	C	T	18	31386682	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.35007550538484E-4	0.092
18	28966646	T	A	18	31386683	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.97599514760744	0.606
18	28966646	T	C	18	31386683	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00321940055645923	0.14
18	28966646	T	G	18	31386683	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.931252240062832	0.584
18	28966647	T	A	18	31386684	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.99293008504773E-4	0.028
18	28966647	T	C	18	31386684	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.17277071413297E-4	0.05
18	28966647	T	G	18	31386684	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.35034622349551E-4	0.06
18	28966648	A	C	18	31386685	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.20509531714056E-5	0.034
18	28966648	A	G	18	31386685	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0858230725928697	0.336
18	28966648	A	T	18	31386685	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.46389589563481E-5	0.01
18	28966649	A	C	18	31386686	y	y	splicing	DSG4(NM_001134453:exon3:c.85-2A>C;NM_177986:exon3:c.85-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.85-2A>C;ENST00000359747:exon3:c.85-2A>C)	.	.	0.999986741007567	0.94
18	28966649	A	G	18	31386686	y	y	splicing	DSG4(NM_001134453:exon3:c.85-2A>G;NM_177986:exon3:c.85-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.85-2A>G;ENST00000359747:exon3:c.85-2A>G)	.	.	0.999981537975149	0.938
18	28966649	A	T	18	31386686	y	y	splicing	DSG4(NM_001134453:exon3:c.85-2A>T;NM_177986:exon3:c.85-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.85-2A>T;ENST00000359747:exon3:c.85-2A>T)	.	.	0.999986741007567	0.94
18	28966650	G	A	18	31386687	y	y	splicing	DSG4(NM_001134453:exon3:c.85-1G>A;NM_177986:exon3:c.85-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.85-1G>A;ENST00000359747:exon3:c.85-1G>A)	.	.	0.999983677848485	0.942
18	28966650	G	C	18	31386687	y	y	splicing	DSG4(NM_001134453:exon3:c.85-1G>C;NM_177986:exon3:c.85-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.85-1G>C;ENST00000359747:exon3:c.85-1G>C)	.	.	0.999983677848485	0.94
18	28966650	G	T	18	31386687	y	y	splicing	DSG4(NM_001134453:exon3:c.85-1G>T;NM_177986:exon3:c.85-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.85-1G>T;ENST00000359747:exon3:c.85-1G>T)	.	.	0.999983677848485	0.934
18	28966651	G	A	18	31386688	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.G85A:p.V29M;DSG4:NM_001134453:exon3:c.G85A:p.V29M;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.G85A:p.V29M;ENSG00000175065:ENST00000308128:exon3:c.G85A:p.V29M;	0.99986459283841	0.892
18	28966651	G	C	18	31386688	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.G85C:p.V29L;DSG4:NM_001134453:exon3:c.G85C:p.V29L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.G85C:p.V29L;ENSG00000175065:ENST00000308128:exon3:c.G85C:p.V29L;	0.999936599700457	0.966
18	28966651	G	T	18	31386688	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.G85T:p.V29L;DSG4:NM_001134453:exon3:c.G85T:p.V29L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.G85T:p.V29L;ENSG00000175065:ENST00000308128:exon3:c.G85T:p.V29L;	0.999955375180482	0.986
18	28966652	T	A	18	31386689	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.T86A:p.V29E;DSG4:NM_001134453:exon3:c.T86A:p.V29E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.T86A:p.V29E;ENSG00000175065:ENST00000308128:exon3:c.T86A:p.V29E;	0.903734417687185	0.454
18	28966652	T	C	18	31386689	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.T86C:p.V29A;DSG4:NM_001134453:exon3:c.T86C:p.V29A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.T86C:p.V29A;ENSG00000175065:ENST00000308128:exon3:c.T86C:p.V29A;	0.928582100164658	0.486
18	28966652	T	G	18	31386689	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.T86G:p.V29G;DSG4:NM_001134453:exon3:c.T86G:p.V29G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.T86G:p.V29G;ENSG00000175065:ENST00000308128:exon3:c.T86G:p.V29G;	0.850678316548467	0.462
18	28966780	A	C	18	31386817	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.A214C:p.K72Q;DSG4:NM_001134453:exon3:c.A214C:p.K72Q;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.A214C:p.K72Q;ENSG00000175065:ENST00000308128:exon3:c.A214C:p.K72Q;	2.2003827582649E-4	0.0
18	28966780	A	G	18	31386817	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.A214G:p.K72E;DSG4:NM_001134453:exon3:c.A214G:p.K72E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.A214G:p.K72E;ENSG00000175065:ENST00000308128:exon3:c.A214G:p.K72E;	0.00352847926930952	0.038
18	28966780	A	T	18	31386817	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon3:c.A214T:p.K72X;DSG4:NM_001134453:exon3:c.A214T:p.K72X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon3:c.A214T:p.K72X;ENSG00000175065:ENST00000308128:exon3:c.A214T:p.K72X;	0.219227414169587	0.418
18	28966781	A	C	18	31386818	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.A215C:p.K72T;DSG4:NM_001134453:exon3:c.A215C:p.K72T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.A215C:p.K72T;ENSG00000175065:ENST00000308128:exon3:c.A215C:p.K72T;	0.0496917340258272	0.476
18	28966781	A	G	18	31386818	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.A215G:p.K72R;DSG4:NM_001134453:exon3:c.A215G:p.K72R;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.A215G:p.K72R;ENSG00000175065:ENST00000308128:exon3:c.A215G:p.K72R;	0.0332847450236479	0.224
18	28966781	A	T	18	31386818	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.A215T:p.K72I;DSG4:NM_001134453:exon3:c.A215T:p.K72I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.A215T:p.K72I;ENSG00000175065:ENST00000308128:exon3:c.A215T:p.K72I;	0.534351255634645	0.47
18	28966782	A	C	18	31386819	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.A216C:p.K72N;DSG4:NM_001134453:exon3:c.A216C:p.K72N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.A216C:p.K72N;ENSG00000175065:ENST00000308128:exon3:c.A216C:p.K72N;	6.77401652283948E-5	0.114
18	28966782	A	G	18	31386819	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon3:c.A216G:p.K72K;DSG4:NM_001134453:exon3:c.A216G:p.K72K;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.A216G:p.K72K;ENSG00000175065:ENST00000308128:exon3:c.A216G:p.K72K;	1.03574657596433E-4	0.04
18	28966782	A	T	18	31386819	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon3:c.A216T:p.K72N;DSG4:NM_001134453:exon3:c.A216T:p.K72N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon3:c.A216T:p.K72N;ENSG00000175065:ENST00000308128:exon3:c.A216T:p.K72N;	0.00108882907321476	0.138
18	28966783	G	A	18	31386820	y	y	splicing	DSG4(NM_001134453:exon3:c.216+1G>A;NM_177986:exon3:c.216+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.216+1G>A;ENST00000359747:exon3:c.216+1G>A)	.	.	0.999985532734767	0.936
18	28966783	G	C	18	31386820	y	y	splicing	DSG4(NM_001134453:exon3:c.216+1G>C;NM_177986:exon3:c.216+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.216+1G>C;ENST00000359747:exon3:c.216+1G>C)	.	.	0.999985532734767	0.936
18	28966783	G	T	18	31386820	y	y	splicing	DSG4(NM_001134453:exon3:c.216+1G>T;NM_177986:exon3:c.216+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.216+1G>T;ENST00000359747:exon3:c.216+1G>T)	.	.	0.999985532734767	0.936
18	28966784	T	A	18	31386821	y	y	splicing	DSG4(NM_001134453:exon3:c.216+2T>A;NM_177986:exon3:c.216+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.216+2T>A;ENST00000359747:exon3:c.216+2T>A)	.	.	0.999988247793601	0.926
18	28966784	T	C	18	31386821	y	y	splicing	DSG4(NM_001134453:exon3:c.216+2T>C;NM_177986:exon3:c.216+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.216+2T>C;ENST00000359747:exon3:c.216+2T>C)	.	.	0.987256086742815	0.628
18	28966784	T	G	18	31386821	y	y	splicing	DSG4(NM_001134453:exon3:c.216+2T>G;NM_177986:exon3:c.216+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon3:c.216+2T>G;ENST00000359747:exon3:c.216+2T>G)	.	.	0.999978952611685	0.924
18	28966785	A	C	18	31386822	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999749116656263	0.88
18	28966785	A	G	18	31386822	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00622588203787577	0.154
18	28966785	A	T	18	31386822	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.987772585973958	0.734
18	28966786	A	C	18	31386823	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.2413705841142	0.3
18	28966786	A	G	18	31386823	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.54609622518236	0.542
18	28966786	A	T	18	31386823	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.738573621371571	0.454
18	28966787	G	A	18	31386824	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.995611879570147	0.922
18	28966787	G	C	18	31386824	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994906262689307	0.848
18	28966787	G	T	18	31386824	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998565828539892	0.854
18	28966788	T	A	18	31386825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.404798695996425	0.526
18	28966788	T	C	18	31386825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.263620965761079	0.59
18	28966788	T	G	18	31386825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.147498303367968	0.48
18	28966789	G	A	18	31386826	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.3792941313816E-4	0.004
18	28966789	G	C	18	31386826	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.07620674332072E-5	0.01
18	28966789	G	T	18	31386826	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.33842853572763E-4	0.014
18	28966790	A	C	18	31386827	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.89598363400388E-5	0.0
18	28966790	A	G	18	31386827	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.96404089075045E-5	0.0
18	28966790	A	T	18	31386827	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.89598363400388E-5	0.006
18	28968318	T	A	18	31388355	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.03576934873735E-4	0.14
18	28968318	T	C	18	31388355	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.10890702616292E-5	0.046
18	28968318	T	G	18	31388355	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999856720359748	0.928
18	28968319	T	A	18	31388356	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.9976847072157E-4	0.21
18	28968319	T	C	18	31388356	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.10152377514103E-6	0.024
18	28968319	T	G	18	31388356	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.70080011995016E-5	0.084
18	28968320	T	A	18	31388357	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0679300927201461	0.336
18	28968320	T	C	18	31388357	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00494274427470989	0.058
18	28968320	T	G	18	31388357	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0386676959873501	0.218
18	28968321	T	A	18	31388358	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0315155404500819	0.222
18	28968321	T	C	18	31388358	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00332138149384201	0.128
18	28968321	T	G	18	31388358	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0433867968177299	0.21
18	28968322	T	A	18	31388359	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00467794840204833	0.256
18	28968322	T	C	18	31388359	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.30951342289277E-4	0.006
18	28968322	T	G	18	31388359	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00868479015788641	0.13
18	28968323	C	A	18	31388360	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0057400528840331	0.104
18	28968323	C	G	18	31388360	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.62519997358463E-4	0.042
18	28968323	C	T	18	31388360	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.71427323762338E-4	0.024
18	28968324	T	A	18	31388361	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0323819139666682	0.156
18	28968324	T	C	18	31388361	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.84317199318658E-5	0.002
18	28968324	T	G	18	31388361	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.137900889978982	0.194
18	28968325	T	A	18	31388362	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00324807044157331	0.086
18	28968325	T	C	18	31388362	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.20828920937408E-4	0.01
18	28968325	T	G	18	31388362	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00801460265537592	0.102
18	28968326	A	C	18	31388363	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.09234804909181E-5	0.006
18	28968326	A	G	18	31388363	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.1608922087202E-4	0.0
18	28968326	A	T	18	31388363	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.28248987165714E-5	0.0
18	28968327	T	A	18	31388364	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00189199449445747	0.194
18	28968327	T	C	18	31388364	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.78074216611333E-5	0.032
18	28968327	T	G	18	31388364	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.981744682311065	0.602
18	28968328	A	C	18	31388365	y	y	splicing	DSG4(NM_001134453:exon4:c.217-2A>C;NM_177986:exon4:c.217-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.217-2A>C;ENST00000359747:exon4:c.217-2A>C)	.	.	0.999988247793601	0.928
18	28968328	A	G	18	31388365	y	y	splicing	DSG4(NM_001134453:exon4:c.217-2A>G;NM_177986:exon4:c.217-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.217-2A>G;ENST00000359747:exon4:c.217-2A>G)	.	.	0.999988247793601	0.928
18	28968328	A	T	18	31388365	y	y	splicing	DSG4(NM_001134453:exon4:c.217-2A>T;NM_177986:exon4:c.217-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.217-2A>T;ENST00000359747:exon4:c.217-2A>T)	.	.	0.999988247793601	0.93
18	28968329	G	A	18	31388366	y	y	splicing	DSG4(NM_001134453:exon4:c.217-1G>A;NM_177986:exon4:c.217-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.217-1G>A;ENST00000359747:exon4:c.217-1G>A)	.	.	0.999990361384395	0.938
18	28968329	G	C	18	31388366	y	y	splicing	DSG4(NM_001134453:exon4:c.217-1G>C;NM_177986:exon4:c.217-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.217-1G>C;ENST00000359747:exon4:c.217-1G>C)	.	.	0.999990361384395	0.938
18	28968329	G	T	18	31388366	y	y	splicing	DSG4(NM_001134453:exon4:c.217-1G>T;NM_177986:exon4:c.217-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.217-1G>T;ENST00000359747:exon4:c.217-1G>T)	.	.	0.999990361384395	0.938
18	28968330	A	C	18	31388367	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.A217C:p.I73L;DSG4:NM_001134453:exon4:c.A217C:p.I73L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.A217C:p.I73L;ENSG00000175065:ENST00000308128:exon4:c.A217C:p.I73L;	0.338764684725146	0.68
18	28968330	A	G	18	31388367	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.A217G:p.I73V;DSG4:NM_001134453:exon4:c.A217G:p.I73V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.A217G:p.I73V;ENSG00000175065:ENST00000308128:exon4:c.A217G:p.I73V;	0.367759896190737	0.516
18	28968330	A	T	18	31388367	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.A217T:p.I73F;DSG4:NM_001134453:exon4:c.A217T:p.I73F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.A217T:p.I73F;ENSG00000175065:ENST00000308128:exon4:c.A217T:p.I73F;	0.340555190884121	0.602
18	28968331	T	A	18	31388368	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.T218A:p.I73N;DSG4:NM_001134453:exon4:c.T218A:p.I73N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.T218A:p.I73N;ENSG00000175065:ENST00000308128:exon4:c.T218A:p.I73N;	0.239059269841728	0.558
18	28968331	T	C	18	31388368	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.T218C:p.I73T;DSG4:NM_001134453:exon4:c.T218C:p.I73T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.T218C:p.I73T;ENSG00000175065:ENST00000308128:exon4:c.T218C:p.I73T;	0.242687985769456	0.6
18	28968331	T	G	18	31388368	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.T218G:p.I73S;DSG4:NM_001134453:exon4:c.T218G:p.I73S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.T218G:p.I73S;ENSG00000175065:ENST00000308128:exon4:c.T218G:p.I73S;	0.354027013199169	0.578
18	28968483	T	A	18	31388520	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.T370A:p.L124M;DSG4:NM_001134453:exon4:c.T370A:p.L124M;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.T370A:p.L124M;ENSG00000175065:ENST00000308128:exon4:c.T370A:p.L124M;	1.49170107376595E-5	0.112
18	28968483	T	C	18	31388520	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon4:c.T370C:p.L124L;DSG4:NM_001134453:exon4:c.T370C:p.L124L;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.T370C:p.L124L;ENSG00000175065:ENST00000308128:exon4:c.T370C:p.L124L;	1.67833413238745E-5	0.034
18	28968483	T	G	18	31388520	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.T370G:p.L124V;DSG4:NM_001134453:exon4:c.T370G:p.L124V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.T370G:p.L124V;ENSG00000175065:ENST00000308128:exon4:c.T370G:p.L124V;	4.15241724861317E-5	0.096
18	28968484	T	A	18	31388521	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon4:c.T371A:p.L124X;DSG4:NM_001134453:exon4:c.T371A:p.L124X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon4:c.T371A:p.L124X;ENSG00000175065:ENST00000308128:exon4:c.T371A:p.L124X;	0.845644825939657	0.71
18	28968484	T	C	18	31388521	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.T371C:p.L124S;DSG4:NM_001134453:exon4:c.T371C:p.L124S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.T371C:p.L124S;ENSG00000175065:ENST00000308128:exon4:c.T371C:p.L124S;	0.213059946248199	0.608
18	28968484	T	G	18	31388521	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.T371G:p.L124W;DSG4:NM_001134453:exon4:c.T371G:p.L124W;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.T371G:p.L124W;ENSG00000175065:ENST00000308128:exon4:c.T371G:p.L124W;	0.884342248316702	0.818
18	28968485	G	A	18	31388522	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon4:c.G372A:p.L124L;DSG4:NM_001134453:exon4:c.G372A:p.L124L;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.G372A:p.L124L;ENSG00000175065:ENST00000308128:exon4:c.G372A:p.L124L;	0.999261325943951	0.898
18	28968485	G	C	18	31388522	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.G372C:p.L124F;DSG4:NM_001134453:exon4:c.G372C:p.L124F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.G372C:p.L124F;ENSG00000175065:ENST00000308128:exon4:c.G372C:p.L124F;	0.999924376452306	0.956
18	28968485	G	T	18	31388522	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon4:c.G372T:p.L124F;DSG4:NM_001134453:exon4:c.G372T:p.L124F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon4:c.G372T:p.L124F;ENSG00000175065:ENST00000308128:exon4:c.G372T:p.L124F;	0.999329937947335	0.742
18	28968486	G	A	18	31388523	y	y	splicing	DSG4(NM_001134453:exon4:c.372+1G>A;NM_177986:exon4:c.372+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.372+1G>A;ENST00000359747:exon4:c.372+1G>A)	.	.	0.999990361384395	0.938
18	28968486	G	C	18	31388523	y	y	splicing	DSG4(NM_001134453:exon4:c.372+1G>C;NM_177986:exon4:c.372+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.372+1G>C;ENST00000359747:exon4:c.372+1G>C)	.	.	0.999990361384395	0.938
18	28968486	G	T	18	31388523	y	y	splicing	DSG4(NM_001134453:exon4:c.372+1G>T;NM_177986:exon4:c.372+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.372+1G>T;ENST00000359747:exon4:c.372+1G>T)	.	.	0.999990361384395	0.938
18	28968487	T	A	18	31388524	y	y	splicing	DSG4(NM_001134453:exon4:c.372+2T>A;NM_177986:exon4:c.372+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.372+2T>A;ENST00000359747:exon4:c.372+2T>A)	.	.	0.999988247793601	0.932
18	28968487	T	C	18	31388524	y	y	splicing	DSG4(NM_001134453:exon4:c.372+2T>C;NM_177986:exon4:c.372+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.372+2T>C;ENST00000359747:exon4:c.372+2T>C)	.	.	0.98918007292081	0.676
18	28968487	T	G	18	31388524	y	y	splicing	DSG4(NM_001134453:exon4:c.372+2T>G;NM_177986:exon4:c.372+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon4:c.372+2T>G;ENST00000359747:exon4:c.372+2T>G)	.	.	0.999988247793601	0.93
18	28968488	A	C	18	31388525	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.97685663984547	0.704
18	28968488	A	G	18	31388525	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00283983032728502	0.09
18	28968488	A	T	18	31388525	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.843621744312505	0.536
18	28968489	A	C	18	31388526	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0976239349299793	0.28
18	28968489	A	G	18	31388526	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.440396957129452	0.384
18	28968489	A	T	18	31388526	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.457100355391458	0.4
18	28968490	G	A	18	31388527	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994933762134125	0.878
18	28968490	G	C	18	31388527	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.992611050716799	0.82
18	28968490	G	T	18	31388527	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998379446806464	0.866
18	28968491	T	A	18	31388528	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.133951953987881	0.388
18	28968491	T	C	18	31388528	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.246219184573435	0.418
18	28968491	T	G	18	31388528	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0133248080973872	0.26
18	28968492	C	A	18	31388529	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.00078182992608E-4	0.04
18	28968492	C	G	18	31388529	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.5779928443876E-4	0.036
18	28968492	C	T	18	31388529	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.46041411234563E-4	0.024
18	28968493	A	C	18	31388530	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.16602419096015E-4	0.002
18	28968493	A	G	18	31388530	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.16602419096015E-4	0.002
18	28968493	A	T	18	31388530	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0013716770072206	0.01
18	28968825	A	C	18	31388862	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.21971191909896E-4	0.002
18	28968825	A	G	18	31388862	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.89786623068404E-4	0.012
18	28968825	A	T	18	31388862	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.93347192194243E-4	0.004
18	28968826	A	C	18	31388863	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.17565382464689E-5	0.0
18	28968826	A	G	18	31388863	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.991957324627723	0.77
18	28968826	A	T	18	31388863	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.55118235426446E-4	0.098
18	28968827	T	A	18	31388864	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.135798169368943	0.446
18	28968827	T	C	18	31388864	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.171706523744E-5	0.012
18	28968827	T	G	18	31388864	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994246147651236	0.862
18	28968828	T	A	18	31388865	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.992365541735309	0.728
18	28968828	T	C	18	31388865	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.134330496501906	0.328
18	28968828	T	G	18	31388865	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.995854539727871	0.774
18	28968829	T	A	18	31388866	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.017678599457202	0.218
18	28968829	T	C	18	31388866	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.88771905505812E-5	0.0
18	28968829	T	G	18	31388866	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00112304093101225	0.178
18	28968830	T	A	18	31388867	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0707807076970796	0.242
18	28968830	T	C	18	31388867	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.41297436005553E-4	0.0
18	28968830	T	G	18	31388867	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.162056818246638	0.256
18	28968831	C	A	18	31388868	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00487205126211284	0.116
18	28968831	C	G	18	31388868	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.01902184017575	0.14
18	28968831	C	T	18	31388868	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.68417309371598E-5	0.0
18	28968832	C	A	18	31388869	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0016526523722968	0.094
18	28968832	C	G	18	31388869	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00129414619691192	0.194
18	28968832	C	T	18	31388869	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.18385840445076E-4	0.008
18	28968833	A	C	18	31388870	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.79462581604484E-4	0.008
18	28968833	A	G	18	31388870	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.04122578315554E-4	0.026
18	28968833	A	T	18	31388870	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.34852951476886E-4	0.028
18	28968834	C	A	18	31388871	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.463391990218757	0.52
18	28968834	C	G	18	31388871	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999770714722732	0.956
18	28968834	C	T	18	31388871	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00275805521329074	0.044
18	28968835	A	C	18	31388872	y	y	splicing	DSG4(NM_001134453:exon5:c.373-2A>C;NM_177986:exon5:c.373-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.373-2A>C;ENST00000359747:exon5:c.373-2A>C)	.	.	0.999988247793601	0.93
18	28968835	A	G	18	31388872	y	y	splicing	DSG4(NM_001134453:exon5:c.373-2A>G;NM_177986:exon5:c.373-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.373-2A>G;ENST00000359747:exon5:c.373-2A>G)	.	.	0.999988247793601	0.93
18	28968835	A	T	18	31388872	y	y	splicing	DSG4(NM_001134453:exon5:c.373-2A>T;NM_177986:exon5:c.373-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.373-2A>T;ENST00000359747:exon5:c.373-2A>T)	.	.	0.999988247793601	0.932
18	28968836	G	A	18	31388873	y	y	splicing	DSG4(NM_001134453:exon5:c.373-1G>A;NM_177986:exon5:c.373-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.373-1G>A;ENST00000359747:exon5:c.373-1G>A)	.	.	0.999990361384395	0.938
18	28968836	G	C	18	31388873	y	y	splicing	DSG4(NM_001134453:exon5:c.373-1G>C;NM_177986:exon5:c.373-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.373-1G>C;ENST00000359747:exon5:c.373-1G>C)	.	.	0.999990361384395	0.938
18	28968836	G	T	18	31388873	y	y	splicing	DSG4(NM_001134453:exon5:c.373-1G>T;NM_177986:exon5:c.373-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.373-1G>T;ENST00000359747:exon5:c.373-1G>T)	.	.	0.999990361384395	0.938
18	28968837	A	C	18	31388874	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.A373C:p.I125L;DSG4:NM_001134453:exon5:c.A373C:p.I125L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.A373C:p.I125L;ENSG00000175065:ENST00000308128:exon5:c.A373C:p.I125L;	0.257059576333417	0.52
18	28968837	A	G	18	31388874	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.A373G:p.I125V;DSG4:NM_001134453:exon5:c.A373G:p.I125V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.A373G:p.I125V;ENSG00000175065:ENST00000308128:exon5:c.A373G:p.I125V;	0.775158242750843	0.692
18	28968837	A	T	18	31388874	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.A373T:p.I125F;DSG4:NM_001134453:exon5:c.A373T:p.I125F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.A373T:p.I125F;ENSG00000175065:ENST00000308128:exon5:c.A373T:p.I125F;	0.572957211689291	0.608
18	28968838	T	A	18	31388875	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.T374A:p.I125N;DSG4:NM_001134453:exon5:c.T374A:p.I125N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.T374A:p.I125N;ENSG00000175065:ENST00000308128:exon5:c.T374A:p.I125N;	0.563704758202013	0.62
18	28968838	T	C	18	31388875	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.T374C:p.I125T;DSG4:NM_001134453:exon5:c.T374C:p.I125T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.T374C:p.I125T;ENSG00000175065:ENST00000308128:exon5:c.T374C:p.I125T;	0.453455256861061	0.59
18	28968838	T	G	18	31388875	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.T374G:p.I125S;DSG4:NM_001134453:exon5:c.T374G:p.I125S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.T374G:p.I125S;ENSG00000175065:ENST00000308128:exon5:c.T374G:p.I125S;	0.563704758202013	0.624
18	28968979	C	A	18	31389016	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.C515A:p.A172D;DSG4:NM_001134453:exon5:c.C515A:p.A172D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.C515A:p.A172D;ENSG00000175065:ENST00000308128:exon5:c.C515A:p.A172D;	0.922717379451675	0.69
18	28968979	C	G	18	31389016	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.C515G:p.A172G;DSG4:NM_001134453:exon5:c.C515G:p.A172G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.C515G:p.A172G;ENSG00000175065:ENST00000308128:exon5:c.C515G:p.A172G;	0.911951512959587	0.646
18	28968979	C	T	18	31389016	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.C515T:p.A172V;DSG4:NM_001134453:exon5:c.C515T:p.A172V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.C515T:p.A172V;ENSG00000175065:ENST00000308128:exon5:c.C515T:p.A172V;	0.999106456177021	0.734
18	28968980	C	A	18	31389017	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon5:c.C516A:p.A172A;DSG4:NM_001134453:exon5:c.C516A:p.A172A;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.C516A:p.A172A;ENSG00000175065:ENST00000308128:exon5:c.C516A:p.A172A;	9.01443143181328E-5	0.066
18	28968980	C	G	18	31389017	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon5:c.C516G:p.A172A;DSG4:NM_001134453:exon5:c.C516G:p.A172A;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.C516G:p.A172A;ENSG00000175065:ENST00000308128:exon5:c.C516G:p.A172A;	7.48815979958128E-5	0.006
18	28968980	C	T	18	31389017	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon5:c.C516T:p.A172A;DSG4:NM_001134453:exon5:c.C516T:p.A172A;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.C516T:p.A172A;ENSG00000175065:ENST00000308128:exon5:c.C516T:p.A172A;	2.73284316746522E-4	0.022
18	28968981	A	C	18	31389018	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.A517C:p.N173H;DSG4:NM_001134453:exon5:c.A517C:p.N173H;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.A517C:p.N173H;ENSG00000175065:ENST00000308128:exon5:c.A517C:p.N173H;	0.583122607817527	0.608
18	28968981	A	G	18	31389018	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.A517G:p.N173D;DSG4:NM_001134453:exon5:c.A517G:p.N173D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.A517G:p.N173D;ENSG00000175065:ENST00000308128:exon5:c.A517G:p.N173D;	0.435028031864542	0.366
18	28968981	A	T	18	31389018	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon5:c.A517T:p.N173Y;DSG4:NM_001134453:exon5:c.A517T:p.N173Y;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon5:c.A517T:p.N173Y;ENSG00000175065:ENST00000308128:exon5:c.A517T:p.N173Y;	0.890323247269209	0.696
18	28968982	G	A	18	31389019	y	y	splicing	DSG4(NM_001134453:exon5:c.517+1G>A;NM_177986:exon5:c.517+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.517+1G>A;ENST00000359747:exon5:c.517+1G>A)	.	.	0.999990361384395	0.938
18	28968982	G	C	18	31389019	y	y	splicing	DSG4(NM_001134453:exon5:c.517+1G>C;NM_177986:exon5:c.517+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.517+1G>C;ENST00000359747:exon5:c.517+1G>C)	.	.	0.999990361384395	0.938
18	28968982	G	T	18	31389019	y	y	splicing	DSG4(NM_001134453:exon5:c.517+1G>T;NM_177986:exon5:c.517+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.517+1G>T;ENST00000359747:exon5:c.517+1G>T)	.	.	0.999990361384395	0.938
18	28968983	T	A	18	31389020	y	y	splicing	DSG4(NM_001134453:exon5:c.517+2T>A;NM_177986:exon5:c.517+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.517+2T>A;ENST00000359747:exon5:c.517+2T>A)	.	.	0.999988247793601	0.93
18	28968983	T	C	18	31389020	y	y	splicing	DSG4(NM_001134453:exon5:c.517+2T>C;NM_177986:exon5:c.517+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.517+2T>C;ENST00000359747:exon5:c.517+2T>C)	.	.	0.994731650058242	0.706
18	28968983	T	G	18	31389020	y	y	splicing	DSG4(NM_001134453:exon5:c.517+2T>G;NM_177986:exon5:c.517+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon5:c.517+2T>G;ENST00000359747:exon5:c.517+2T>G)	.	.	0.999988247793601	0.93
18	28968984	A	C	18	31389021	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999332288088961	0.788
18	28968984	A	G	18	31389021	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00256417116184089	0.16
18	28968984	A	T	18	31389021	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999128380622648	0.812
18	28968985	A	C	18	31389022	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.863031079369362	0.654
18	28968985	A	G	18	31389022	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.975898717723663	0.86
18	28968985	A	T	18	31389022	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.980744589914189	0.83
18	28968986	G	A	18	31389023	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.99997461091917	1.0
18	28968986	G	C	18	31389023	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999976008337081	0.962
18	28968986	G	T	18	31389023	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999976008337081	0.986
18	28968987	T	A	18	31389024	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.983581757314237	0.758
18	28968987	T	C	18	31389024	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.99050129885921	0.848
18	28968987	T	G	18	31389024	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994497621687227	0.836
18	28968988	A	C	18	31389025	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.40638187709983E-4	0.006
18	28968988	A	G	18	31389025	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.91820881514266E-4	0.006
18	28968988	A	T	18	31389025	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.79855305680336E-4	0.002
18	28968989	G	A	18	31389026	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.16093661470605E-4	0.1
18	28968989	G	C	18	31389026	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.43420338037082E-4	0.004
18	28968989	G	T	18	31389026	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.41018774424539E-4	0.01
18	28970607	T	A	18	31390644	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0250243412442106	0.232
18	28970607	T	C	18	31390644	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.57013872936027E-5	0.018
18	28970607	T	G	18	31390644	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00306421204144642	0.216
18	28970608	T	A	18	31390645	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.958862693396326	0.742
18	28970608	T	C	18	31390645	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.237536103129214	0.366
18	28970608	T	G	18	31390645	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.9232393091218	0.67
18	28970609	C	A	18	31390646	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00175517480560945	0.088
18	28970609	C	G	18	31390646	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00111955224722888	0.064
18	28970609	C	T	18	31390646	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.001509455452894	0.052
18	28970610	T	A	18	31390647	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0192543159951567	0.166
18	28970610	T	C	18	31390647	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.69594478164527E-6	0.012
18	28970610	T	G	18	31390647	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0218492306457831	0.196
18	28970611	A	C	18	31390648	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.28297726584717E-4	0.008
18	28970611	A	G	18	31390648	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.83990849052028E-4	0.004
18	28970611	A	T	18	31390648	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.46159857512283E-4	0.004
18	28970612	T	A	18	31390649	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0153522552612355	0.196
18	28970612	T	C	18	31390649	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.66775787565058E-4	0.006
18	28970612	T	G	18	31390649	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.99919296667866	0.984
18	28970613	T	A	18	31390650	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0375904165243039	0.308
18	28970613	T	C	18	31390650	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.13395431056144E-4	0.008
18	28970613	T	G	18	31390650	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0819276942665742	0.372
18	28970614	T	A	18	31390651	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.351002190596476	0.514
18	28970614	T	C	18	31390651	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00393916045095403	0.054
18	28970614	T	G	18	31390651	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.383187026561114	0.5
18	28970615	C	A	18	31390652	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.03469679633021E-5	0.002
18	28970615	C	G	18	31390652	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.28742675871441E-5	0.002
18	28970615	C	T	18	31390652	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.92244632697922E-5	0.004
18	28970616	T	A	18	31390653	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0415126294218471	0.214
18	28970616	T	C	18	31390653	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.67955150898568E-4	0.01
18	28970616	T	G	18	31390653	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998818683747825	0.726
18	28970617	A	C	18	31390654	y	y	splicing	DSG4(NM_001134453:exon6:c.518-2A>C;NM_177986:exon6:c.518-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.518-2A>C;ENST00000359747:exon6:c.518-2A>C)	.	.	0.999955107838025	0.936
18	28970617	A	G	18	31390654	y	y	splicing	DSG4(NM_001134453:exon6:c.518-2A>G;NM_177986:exon6:c.518-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.518-2A>G;ENST00000359747:exon6:c.518-2A>G)	.	.	0.999955107838025	0.936
18	28970617	A	T	18	31390654	y	y	splicing	DSG4(NM_001134453:exon6:c.518-2A>T;NM_177986:exon6:c.518-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.518-2A>T;ENST00000359747:exon6:c.518-2A>T)	.	.	0.999955107838025	0.934
18	28970618	G	A	18	31390655	y	y	splicing	DSG4(NM_001134453:exon6:c.518-1G>A;NM_177986:exon6:c.518-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.518-1G>A;ENST00000359747:exon6:c.518-1G>A)	.	.	0.999962297682439	0.938
18	28970618	G	C	18	31390655	y	y	splicing	DSG4(NM_001134453:exon6:c.518-1G>C;NM_177986:exon6:c.518-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.518-1G>C;ENST00000359747:exon6:c.518-1G>C)	.	.	0.999962297682439	0.948
18	28970618	G	T	18	31390655	y	y	splicing	DSG4(NM_001134453:exon6:c.518-1G>T;NM_177986:exon6:c.518-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.518-1G>T;ENST00000359747:exon6:c.518-1G>T)	.	.	0.999962297682439	0.948
18	28970619	A	C	18	31390656	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.A518C:p.N173T;DSG4:NM_001134453:exon6:c.A518C:p.N173T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.A518C:p.N173T;ENSG00000175065:ENST00000308128:exon6:c.A518C:p.N173T;	0.65314926930413	0.616
18	28970619	A	G	18	31390656	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.A518G:p.N173S;DSG4:NM_001134453:exon6:c.A518G:p.N173S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.A518G:p.N173S;ENSG00000175065:ENST00000308128:exon6:c.A518G:p.N173S;	0.615344468946284	0.576
18	28970619	A	T	18	31390656	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.A518T:p.N173I;DSG4:NM_001134453:exon6:c.A518T:p.N173I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.A518T:p.N173I;ENSG00000175065:ENST00000308128:exon6:c.A518T:p.N173I;	0.65314926930413	0.556
18	28970620	T	A	18	31390657	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.T519A:p.N173K;DSG4:NM_001134453:exon6:c.T519A:p.N173K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.T519A:p.N173K;ENSG00000175065:ENST00000308128:exon6:c.T519A:p.N173K;	0.0163197309168154	0.306
18	28970620	T	C	18	31390657	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon6:c.T519C:p.N173N;DSG4:NM_001134453:exon6:c.T519C:p.N173N;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.T519C:p.N173N;ENSG00000175065:ENST00000308128:exon6:c.T519C:p.N173N;	0.00173289088210211	0.05
18	28970620	T	G	18	31390657	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.T519G:p.N173K;DSG4:NM_001134453:exon6:c.T519G:p.N173K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.T519G:p.N173K;ENSG00000175065:ENST00000308128:exon6:c.T519G:p.N173K;	0.0266203465630079	0.22
18	28970783	G	A	18	31390820	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.G682A:p.E228K;DSG4:NM_001134453:exon6:c.G682A:p.E228K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.G682A:p.E228K;ENSG00000175065:ENST00000308128:exon6:c.G682A:p.E228K;	0.960139520581349	0.78
18	28970783	G	C	18	31390820	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.G682C:p.E228Q;DSG4:NM_001134453:exon6:c.G682C:p.E228Q;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.G682C:p.E228Q;ENSG00000175065:ENST00000308128:exon6:c.G682C:p.E228Q;	0.960139520581349	0.774
18	28970783	G	T	18	31390820	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon6:c.G682T:p.E228X;DSG4:NM_001134453:exon6:c.G682T:p.E228X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon6:c.G682T:p.E228X;ENSG00000175065:ENST00000308128:exon6:c.G682T:p.E228X;	0.997763396608569	0.766
18	28970784	A	C	18	31390821	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.A683C:p.E228A;DSG4:NM_001134453:exon6:c.A683C:p.E228A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.A683C:p.E228A;ENSG00000175065:ENST00000308128:exon6:c.A683C:p.E228A;	0.99939813855885	0.996
18	28970784	A	G	18	31390821	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.A683G:p.E228G;DSG4:NM_001134453:exon6:c.A683G:p.E228G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.A683G:p.E228G;ENSG00000175065:ENST00000308128:exon6:c.A683G:p.E228G;	0.999907379948157	0.984
18	28970784	A	T	18	31390821	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.A683T:p.E228V;DSG4:NM_001134453:exon6:c.A683T:p.E228V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.A683T:p.E228V;ENSG00000175065:ENST00000308128:exon6:c.A683T:p.E228V;	0.999819698774767	0.994
18	28970785	G	A	18	31390822	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon6:c.G684A:p.E228E;DSG4:NM_001134453:exon6:c.G684A:p.E228E;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.G684A:p.E228E;ENSG00000175065:ENST00000308128:exon6:c.G684A:p.E228E;	0.999958038725076	0.984
18	28970785	G	C	18	31390822	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.G684C:p.E228D;DSG4:NM_001134453:exon6:c.G684C:p.E228D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.G684C:p.E228D;ENSG00000175065:ENST00000308128:exon6:c.G684C:p.E228D;	0.999997610789446	1.0
18	28970785	G	T	18	31390822	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon6:c.G684T:p.E228D;DSG4:NM_001134453:exon6:c.G684T:p.E228D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon6:c.G684T:p.E228D;ENSG00000175065:ENST00000308128:exon6:c.G684T:p.E228D;	0.999993018555097	1.0
18	28970786	G	A	18	31390823	y	y	splicing	DSG4(NM_001134453:exon6:c.684+1G>A;NM_177986:exon6:c.684+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.684+1G>A;ENST00000359747:exon6:c.684+1G>A)	.	.	0.999990361384395	0.936
18	28970786	G	C	18	31390823	y	y	splicing	DSG4(NM_001134453:exon6:c.684+1G>C;NM_177986:exon6:c.684+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.684+1G>C;ENST00000359747:exon6:c.684+1G>C)	.	.	0.999990361384395	0.936
18	28970786	G	T	18	31390823	y	y	splicing	DSG4(NM_001134453:exon6:c.684+1G>T;NM_177986:exon6:c.684+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.684+1G>T;ENST00000359747:exon6:c.684+1G>T)	.	.	0.999990361384395	0.936
18	28970787	T	A	18	31390824	y	y	splicing	DSG4(NM_001134453:exon6:c.684+2T>A;NM_177986:exon6:c.684+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.684+2T>A;ENST00000359747:exon6:c.684+2T>A)	.	.	0.999988247793601	0.93
18	28970787	T	C	18	31390824	y	y	splicing	DSG4(NM_001134453:exon6:c.684+2T>C;NM_177986:exon6:c.684+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.684+2T>C;ENST00000359747:exon6:c.684+2T>C)	.	.	0.995320650369382	0.684
18	28970787	T	G	18	31390824	y	y	splicing	DSG4(NM_001134453:exon6:c.684+2T>G;NM_177986:exon6:c.684+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon6:c.684+2T>G;ENST00000359747:exon6:c.684+2T>G)	.	.	0.999988247793601	0.93
18	28970788	A	C	18	31390825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999886198383561	0.974
18	28970788	A	G	18	31390825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998556909706742	0.988
18	28970788	A	T	18	31390825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999885139439939	0.972
18	28970789	A	C	18	31390826	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.595475556158841	0.484
18	28970789	A	G	18	31390826	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.981399720217495	0.74
18	28970789	A	T	18	31390826	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.628395590691375	0.526
18	28970790	A	C	18	31390827	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0104723440302673	0.126
18	28970790	A	G	18	31390827	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.37219619212183E-4	0.026
18	28970790	A	T	18	31390827	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0228151653234462	0.138
18	28970791	G	A	18	31390828	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0184553188719837	0.22
18	28970791	G	C	18	31390828	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0085390062880539	0.234
18	28970791	G	T	18	31390828	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00148262760746601	0.014
18	28970792	C	A	18	31390829	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.08457171098356E-4	0.0
18	28970792	C	G	18	31390829	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.55138899649563E-4	0.016
18	28970792	C	T	18	31390829	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.8079545673394E-4	0.056
18	28970793	C	A	18	31390830	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.16337209241492E-5	0.002
18	28970793	C	G	18	31390830	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.00059328443613E-4	0.008
18	28970793	C	T	18	31390830	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.64308705933177E-5	0.0
18	28971029	A	C	18	31391066	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.09613343203479E-5	0.036
18	28971029	A	G	18	31391066	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.38152981433921E-5	0.026
18	28971029	A	T	18	31391066	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.32862068104608E-5	0.056
18	28971030	T	A	18	31391067	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998280707615635	0.916
18	28971030	T	C	18	31391067	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994430339549278	0.71
18	28971030	T	G	18	31391067	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999939000179802	0.934
18	28971031	C	A	18	31391068	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.16438060170599E-4	0.128
18	28971031	C	G	18	31391068	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.6222875843997E-4	0.09
18	28971031	C	T	18	31391068	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.8898099200254E-5	0.076
18	28971032	T	A	18	31391069	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.093671179883525	0.474
18	28971032	T	C	18	31391069	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.29129217235676E-4	0.03
18	28971032	T	G	18	31391069	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0847871679456341	0.472
18	28971033	T	A	18	31391070	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998331834919953	0.958
18	28971033	T	C	18	31391070	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.66839644009348E-5	0.016
18	28971033	T	G	18	31391070	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00178051392758846	0.222
18	28971034	G	A	18	31391071	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.01679824465082E-4	0.004
18	28971034	G	C	18	31391071	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.05321763436849E-5	0.0
18	28971034	G	T	18	31391071	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.55894512186779E-5	0.046
18	28971035	A	C	18	31391072	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.85842154399774E-4	0.128
18	28971035	A	G	18	31391072	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.99631663588049E-4	0.124
18	28971035	A	T	18	31391072	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.86447302722235E-4	0.058
18	28971036	T	A	18	31391073	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.946632904669964	0.816
18	28971036	T	C	18	31391073	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.579416291338454	0.47
18	28971036	T	G	18	31391073	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999670857836658	0.898
18	28971037	T	A	18	31391074	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.27009857821647E-4	0.06
18	28971037	T	C	18	31391074	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.61111111190459E-4	0.044
18	28971037	T	G	18	31391074	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.10357368219415E-4	0.058
18	28971038	A	C	18	31391075	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.79479293045656E-4	0.054
18	28971038	A	G	18	31391075	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.072116718408729	0.23
18	28971038	A	T	18	31391075	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.18572933894339E-4	0.032
18	28971039	A	C	18	31391076	y	y	splicing	DSG4(NM_001134453:exon7:c.685-2A>C;NM_177986:exon7:c.685-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.685-2A>C;ENST00000359747:exon7:c.685-2A>C)	.	.	0.99994515364607	0.89
18	28971039	A	G	18	31391076	y	y	splicing	DSG4(NM_001134453:exon7:c.685-2A>G;NM_177986:exon7:c.685-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.685-2A>G;ENST00000359747:exon7:c.685-2A>G)	.	.	0.99994515364607	0.89
18	28971039	A	T	18	31391076	y	y	splicing	DSG4(NM_001134453:exon7:c.685-2A>T;NM_177986:exon7:c.685-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.685-2A>T;ENST00000359747:exon7:c.685-2A>T)	.	.	0.999933834912627	0.89
18	28971040	G	A	18	31391077	y	y	splicing	DSG4(NM_001134453:exon7:c.685-1G>A;NM_177986:exon7:c.685-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.685-1G>A;ENST00000359747:exon7:c.685-1G>A)	.	.	0.999985060940668	0.89
18	28971040	G	C	18	31391077	y	y	splicing	DSG4(NM_001134453:exon7:c.685-1G>C;NM_177986:exon7:c.685-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.685-1G>C;ENST00000359747:exon7:c.685-1G>C)	.	.	0.999985060940668	0.89
18	28971040	G	T	18	31391077	y	y	splicing	DSG4(NM_001134453:exon7:c.685-1G>T;NM_177986:exon7:c.685-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.685-1G>T;ENST00000359747:exon7:c.685-1G>T)	.	.	0.999985060940668	0.89
18	28971041	C	A	18	31391078	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.C685A:p.Q229K;DSG4:NM_001134453:exon7:c.C685A:p.Q229K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.C685A:p.Q229K;ENSG00000175065:ENST00000308128:exon7:c.C685A:p.Q229K;	2.88572905615125E-4	0.058
18	28971041	C	G	18	31391078	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.C685G:p.Q229E;DSG4:NM_001134453:exon7:c.C685G:p.Q229E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.C685G:p.Q229E;ENSG00000175065:ENST00000308128:exon7:c.C685G:p.Q229E;	4.22489838298585E-4	0.244
18	28971041	C	T	18	31391078	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon7:c.C685T:p.Q229X;DSG4:NM_001134453:exon7:c.C685T:p.Q229X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon7:c.C685T:p.Q229X;ENSG00000175065:ENST00000308128:exon7:c.C685T:p.Q229X;	0.351004486865908	0.486
18	28971042	A	C	18	31391079	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.A686C:p.Q229P;DSG4:NM_001134453:exon7:c.A686C:p.Q229P;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.A686C:p.Q229P;ENSG00000175065:ENST00000308128:exon7:c.A686C:p.Q229P;	0.938448963383911	0.74
18	28971042	A	G	18	31391079	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.A686G:p.Q229R;DSG4:NM_001134453:exon7:c.A686G:p.Q229R;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.A686G:p.Q229R;ENSG00000175065:ENST00000308128:exon7:c.A686G:p.Q229R;	0.875117082618696	0.704
18	28971042	A	T	18	31391079	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.A686T:p.Q229L;DSG4:NM_001134453:exon7:c.A686T:p.Q229L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.A686T:p.Q229L;ENSG00000175065:ENST00000308128:exon7:c.A686T:p.Q229L;	0.909160263576211	0.78
18	28971173	T	A	18	31391210	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.T817A:p.S273T;DSG4:NM_001134453:exon7:c.T817A:p.S273T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.T817A:p.S273T;ENSG00000175065:ENST00000308128:exon7:c.T817A:p.S273T;	2.43165708398892E-5	0.0
18	28971173	T	C	18	31391210	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.T817C:p.S273P;DSG4:NM_001134453:exon7:c.T817C:p.S273P;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.T817C:p.S273P;ENSG00000175065:ENST00000308128:exon7:c.T817C:p.S273P;	2.04461143996353E-4	0.016
18	28971173	T	G	18	31391210	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.T817G:p.S273A;DSG4:NM_001134453:exon7:c.T817G:p.S273A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.T817G:p.S273A;ENSG00000175065:ENST00000308128:exon7:c.T817G:p.S273A;	2.74095804293253E-5	0.022
18	28971174	C	A	18	31391211	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon7:c.C818A:p.S273X;DSG4:NM_001134453:exon7:c.C818A:p.S273X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon7:c.C818A:p.S273X;ENSG00000175065:ENST00000308128:exon7:c.C818A:p.S273X;	0.0134162531142347	0.302
18	28971174	C	G	18	31391211	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon7:c.C818G:p.S273X;DSG4:NM_001134453:exon7:c.C818G:p.S273X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon7:c.C818G:p.S273X;ENSG00000175065:ENST00000308128:exon7:c.C818G:p.S273X;	0.0144670075623465	0.196
18	28971174	C	T	18	31391211	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon7:c.C818T:p.S273L;DSG4:NM_001134453:exon7:c.C818T:p.S273L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.C818T:p.S273L;ENSG00000175065:ENST00000308128:exon7:c.C818T:p.S273L;	2.24900217397272E-4	0.028
18	28971175	A	C	18	31391212	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon7:c.A819C:p.S273S;DSG4:NM_001134453:exon7:c.A819C:p.S273S;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.A819C:p.S273S;ENSG00000175065:ENST00000308128:exon7:c.A819C:p.S273S;	2.89184576581388E-5	0.0
18	28971175	A	G	18	31391212	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon7:c.A819G:p.S273S;DSG4:NM_001134453:exon7:c.A819G:p.S273S;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.A819G:p.S273S;ENSG00000175065:ENST00000308128:exon7:c.A819G:p.S273S;	7.91988747919949E-5	0.038
18	28971175	A	T	18	31391212	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon7:c.A819T:p.S273S;DSG4:NM_001134453:exon7:c.A819T:p.S273S;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon7:c.A819T:p.S273S;ENSG00000175065:ENST00000308128:exon7:c.A819T:p.S273S;	1.15728752654429E-4	0.034
18	28971176	G	A	18	31391213	y	y	splicing	DSG4(NM_001134453:exon7:c.819+1G>A;NM_177986:exon7:c.819+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.819+1G>A;ENST00000359747:exon7:c.819+1G>A)	.	.	0.999989072007339	0.934
18	28971176	G	C	18	31391213	y	y	splicing	DSG4(NM_001134453:exon7:c.819+1G>C;NM_177986:exon7:c.819+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.819+1G>C;ENST00000359747:exon7:c.819+1G>C)	.	.	0.999989072007339	0.934
18	28971176	G	T	18	31391213	y	y	splicing	DSG4(NM_001134453:exon7:c.819+1G>T;NM_177986:exon7:c.819+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.819+1G>T;ENST00000359747:exon7:c.819+1G>T)	.	.	0.999989072007339	0.934
18	28971177	T	A	18	31391214	y	y	splicing	DSG4(NM_001134453:exon7:c.819+2T>A;NM_177986:exon7:c.819+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.819+2T>A;ENST00000359747:exon7:c.819+2T>A)	.	.	0.999988247793601	0.93
18	28971177	T	C	18	31391214	y	y	splicing	DSG4(NM_001134453:exon7:c.819+2T>C;NM_177986:exon7:c.819+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.819+2T>C;ENST00000359747:exon7:c.819+2T>C)	.	.	0.999300886866009	0.846
18	28971177	T	G	18	31391214	y	y	splicing	DSG4(NM_001134453:exon7:c.819+2T>G;NM_177986:exon7:c.819+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon7:c.819+2T>G;ENST00000359747:exon7:c.819+2T>G)	.	.	0.999988247793601	0.93
18	28971178	A	C	18	31391215	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999659372560474	0.862
18	28971178	A	G	18	31391215	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.724343184662934	0.456
18	28971178	A	T	18	31391215	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999682325696134	0.862
18	28971179	A	C	18	31391216	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994187952928313	0.782
18	28971179	A	G	18	31391216	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994372444683558	0.826
18	28971179	A	T	18	31391216	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.997097843556864	0.852
18	28971180	G	A	18	31391217	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999984602655144	0.992
18	28971180	G	C	18	31391217	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999984602655144	0.976
18	28971180	G	T	18	31391217	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999978537510126	0.986
18	28971181	T	A	18	31391218	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.962886053768024	0.642
18	28971181	T	C	18	31391218	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.964056649580973	0.724
18	28971181	T	G	18	31391218	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.98200689912186	0.716
18	28971182	T	A	18	31391219	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.10556476333779E-4	0.004
18	28971182	T	C	18	31391219	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.17284917348813E-4	0.0
18	28971182	T	G	18	31391219	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.51266459141731E-5	0.0
18	28971183	T	A	18	31391220	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.33141600191487E-5	0.0
18	28971183	T	C	18	31391220	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.64745399314608E-5	0.0
18	28971183	T	G	18	31391220	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.33141600191487E-5	0.0
18	28972106	C	A	18	31392143	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.14521419290044E-4	0.038
18	28972106	C	G	18	31392143	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.79641121783695E-4	0.054
18	28972106	C	T	18	31392143	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.71869413685155E-5	0.002
18	28972107	T	A	18	31392144	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0219480523426404	0.19
18	28972107	T	C	18	31392144	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.82228236301882E-4	0.136
18	28972107	T	G	18	31392144	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0222165492805365	0.274
18	28972108	T	A	18	31392145	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999000029211183	0.946
18	28972108	T	C	18	31392145	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.48194766852945E-4	0.048
18	28972108	T	G	18	31392145	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.15929895486114	0.456
18	28972109	G	A	18	31392146	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.30817883761167E-5	0.004
18	28972109	G	C	18	31392146	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.93543897401704E-5	0.002
18	28972109	G	T	18	31392146	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.23951762930199E-5	0.008
18	28972110	C	A	18	31392147	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00650737603045299	0.156
18	28972110	C	G	18	31392147	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0231711062922946	0.136
18	28972110	C	T	18	31392147	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.57150875846505E-4	0.022
18	28972111	A	C	18	31392148	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.21668094908407E-5	0.006
18	28972111	A	G	18	31392148	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.48664151769782E-4	0.002
18	28972111	A	T	18	31392148	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.74085958832579E-5	0.0
18	28972112	T	A	18	31392149	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.979127677742733	0.65
18	28972112	T	C	18	31392149	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0168788285529747	0.14
18	28972112	T	G	18	31392149	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999963035120804	0.954
18	28972113	T	A	18	31392150	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.996019395659149	0.724
18	28972113	T	C	18	31392150	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.511758523152278	0.352
18	28972113	T	G	18	31392150	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.974663318115137	0.636
18	28972114	T	A	18	31392151	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.91383514762689E-4	0.042
18	28972114	T	C	18	31392151	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.14402117496737E-4	0.108
18	28972114	T	G	18	31392151	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00205547114090106	0.01
18	28972115	T	A	18	31392152	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0496494929063003	0.4
18	28972115	T	C	18	31392152	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.65819814388741E-5	0.06
18	28972115	T	G	18	31392152	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.980746141102501	0.686
18	28972116	A	C	18	31392153	y	y	splicing	DSG4(NM_001134453:exon8:c.820-2A>C;NM_177986:exon8:c.820-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.820-2A>C;ENST00000359747:exon8:c.820-2A>C)	.	.	0.999990764389106	0.934
18	28972116	A	G	18	31392153	y	y	splicing	DSG4(NM_001134453:exon8:c.820-2A>G;NM_177986:exon8:c.820-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.820-2A>G;ENST00000359747:exon8:c.820-2A>G)	.	.	0.999990764389106	0.934
18	28972116	A	T	18	31392153	y	y	splicing	DSG4(NM_001134453:exon8:c.820-2A>T;NM_177986:exon8:c.820-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.820-2A>T;ENST00000359747:exon8:c.820-2A>T)	.	.	0.999990764389106	0.946
18	28972117	G	A	18	31392154	y	y	splicing	DSG4(NM_001134453:exon8:c.820-1G>A;NM_177986:exon8:c.820-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.820-1G>A;ENST00000359747:exon8:c.820-1G>A)	.	.	0.999992425382947	0.944
18	28972117	G	C	18	31392154	y	y	splicing	DSG4(NM_001134453:exon8:c.820-1G>C;NM_177986:exon8:c.820-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.820-1G>C;ENST00000359747:exon8:c.820-1G>C)	.	.	0.999992425382947	0.944
18	28972117	G	T	18	31392154	y	y	splicing	DSG4(NM_001134453:exon8:c.820-1G>T;NM_177986:exon8:c.820-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.820-1G>T;ENST00000359747:exon8:c.820-1G>T)	.	.	0.999992425382947	0.944
18	28972118	T	A	18	31392155	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.T820A:p.Y274N;DSG4:NM_001134453:exon8:c.T820A:p.Y274N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.T820A:p.Y274N;ENSG00000175065:ENST00000308128:exon8:c.T820A:p.Y274N;	0.77940077760116	0.7
18	28972118	T	C	18	31392155	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.T820C:p.Y274H;DSG4:NM_001134453:exon8:c.T820C:p.Y274H;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.T820C:p.Y274H;ENSG00000175065:ENST00000308128:exon8:c.T820C:p.Y274H;	0.961845522622591	0.748
18	28972118	T	G	18	31392155	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.T820G:p.Y274D;DSG4:NM_001134453:exon8:c.T820G:p.Y274D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.T820G:p.Y274D;ENSG00000175065:ENST00000308128:exon8:c.T820G:p.Y274D;	0.834882086541287	0.584
18	28972119	A	C	18	31392156	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.A821C:p.Y274S;DSG4:NM_001134453:exon8:c.A821C:p.Y274S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.A821C:p.Y274S;ENSG00000175065:ENST00000308128:exon8:c.A821C:p.Y274S;	0.938164780945682	0.724
18	28972119	A	G	18	31392156	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.A821G:p.Y274C;DSG4:NM_001134453:exon8:c.A821G:p.Y274C;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.A821G:p.Y274C;ENSG00000175065:ENST00000308128:exon8:c.A821G:p.Y274C;	0.932914845636697	0.628
18	28972119	A	T	18	31392156	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.A821T:p.Y274F;DSG4:NM_001134453:exon8:c.A821T:p.Y274F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.A821T:p.Y274F;ENSG00000175065:ENST00000308128:exon8:c.A821T:p.Y274F;	0.883248431228546	0.676
18	28972301	A	C	18	31392338	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.A1003C:p.K335Q;DSG4:NM_001134453:exon8:c.A1003C:p.K335Q;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.A1003C:p.K335Q;ENSG00000175065:ENST00000308128:exon8:c.A1003C:p.K335Q;	0.055908508521744	0.3
18	28972301	A	G	18	31392338	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.A1003G:p.K335E;DSG4:NM_001134453:exon8:c.A1003G:p.K335E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.A1003G:p.K335E;ENSG00000175065:ENST00000308128:exon8:c.A1003G:p.K335E;	0.0956735151214782	0.264
18	28972301	A	T	18	31392338	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon8:c.A1003T:p.K335X;DSG4:NM_001134453:exon8:c.A1003T:p.K335X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon8:c.A1003T:p.K335X;ENSG00000175065:ENST00000308128:exon8:c.A1003T:p.K335X;	0.993348539311592	0.852
18	28972302	A	C	18	31392339	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.A1004C:p.K335T;DSG4:NM_001134453:exon8:c.A1004C:p.K335T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.A1004C:p.K335T;ENSG00000175065:ENST00000308128:exon8:c.A1004C:p.K335T;	0.999919448204063	0.998
18	28972302	A	G	18	31392339	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.A1004G:p.K335R;DSG4:NM_001134453:exon8:c.A1004G:p.K335R;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.A1004G:p.K335R;ENSG00000175065:ENST00000308128:exon8:c.A1004G:p.K335R;	0.999962697471982	0.998
18	28972302	A	T	18	31392339	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.A1004T:p.K335M;DSG4:NM_001134453:exon8:c.A1004T:p.K335M;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.A1004T:p.K335M;ENSG00000175065:ENST00000308128:exon8:c.A1004T:p.K335M;	0.999950039244928	0.994
18	28972303	G	A	18	31392340	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon8:c.G1005A:p.K335K;DSG4:NM_001134453:exon8:c.G1005A:p.K335K;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.G1005A:p.K335K;ENSG00000175065:ENST00000308128:exon8:c.G1005A:p.K335K;	0.999970091247489	0.998
18	28972303	G	C	18	31392340	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.G1005C:p.K335N;DSG4:NM_001134453:exon8:c.G1005C:p.K335N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.G1005C:p.K335N;ENSG00000175065:ENST00000308128:exon8:c.G1005C:p.K335N;	0.999997360428448	0.996
18	28972303	G	T	18	31392340	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon8:c.G1005T:p.K335N;DSG4:NM_001134453:exon8:c.G1005T:p.K335N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon8:c.G1005T:p.K335N;ENSG00000175065:ENST00000308128:exon8:c.G1005T:p.K335N;	0.99999174582164	0.984
18	28972304	G	A	18	31392341	y	y	splicing	DSG4(NM_001134453:exon8:c.1005+1G>A;NM_177986:exon8:c.1005+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.1005+1G>A;ENST00000359747:exon8:c.1005+1G>A)	.	.	0.999990361384395	0.938
18	28972304	G	C	18	31392341	y	y	splicing	DSG4(NM_001134453:exon8:c.1005+1G>C;NM_177986:exon8:c.1005+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.1005+1G>C;ENST00000359747:exon8:c.1005+1G>C)	.	.	0.999990361384395	0.938
18	28972304	G	T	18	31392341	y	y	splicing	DSG4(NM_001134453:exon8:c.1005+1G>T;NM_177986:exon8:c.1005+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.1005+1G>T;ENST00000359747:exon8:c.1005+1G>T)	.	.	0.999990361384395	0.938
18	28972305	T	A	18	31392342	y	y	splicing	DSG4(NM_001134453:exon8:c.1005+2T>A;NM_177986:exon8:c.1005+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.1005+2T>A;ENST00000359747:exon8:c.1005+2T>A)	.	.	0.999988247793601	0.93
18	28972305	T	C	18	31392342	y	y	splicing	DSG4(NM_001134453:exon8:c.1005+2T>C;NM_177986:exon8:c.1005+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.1005+2T>C;ENST00000359747:exon8:c.1005+2T>C)	.	.	0.992577803696025	0.69
18	28972305	T	G	18	31392342	y	y	splicing	DSG4(NM_001134453:exon8:c.1005+2T>G;NM_177986:exon8:c.1005+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon8:c.1005+2T>G;ENST00000359747:exon8:c.1005+2T>G)	.	.	0.999988247793601	0.93
18	28972306	A	C	18	31392343	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999934694965967	0.964
18	28972306	A	G	18	31392343	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.997397893196889	0.98
18	28972306	A	T	18	31392343	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999947977656541	0.974
18	28972307	C	A	18	31392344	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.22528760757389E-5	0.042
18	28972307	C	G	18	31392344	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00170948728710177	0.092
18	28972307	C	T	18	31392344	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.30140061803818E-4	0.054
18	28972308	A	C	18	31392345	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.45696283843546E-4	0.096
18	28972308	A	G	18	31392345	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.93881509871169E-4	0.1
18	28972308	A	T	18	31392345	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.75890532661468E-4	0.03
18	28972309	G	A	18	31392346	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00157825126650132	0.078
18	28972309	G	C	18	31392346	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00363960386033738	0.056
18	28972309	G	T	18	31392346	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.32097551675146E-4	0.01
18	28972310	T	A	18	31392347	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.88626366675982E-4	0.01
18	28972310	T	C	18	31392347	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.49256126858717E-4	0.01
18	28972310	T	G	18	31392347	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.36084452809473E-4	0.016
18	28972311	A	C	18	31392348	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.35553592489904E-5	0.004
18	28972311	A	G	18	31392348	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.19756607859203E-4	0.006
18	28972311	A	T	18	31392348	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.06204400305209E-4	0.004
18	28979223	C	A	18	31399260	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.66531310646142E-4	0.034
18	28979223	C	G	18	31399260	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.78281047346385E-4	0.03
18	28979223	C	T	18	31399260	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.61170918465381E-5	0.002
18	28979224	T	A	18	31399261	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00122946276510738	0.182
18	28979224	T	C	18	31399261	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00190058330399713	0.068
18	28979224	T	G	18	31399261	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.13715246028199E-4	0.174
18	28979225	T	A	18	31399262	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.6822379316128E-4	0.076
18	28979225	T	C	18	31399262	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.05155727094785E-4	0.032
18	28979225	T	G	18	31399262	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.48966978854396E-4	0.112
18	28979226	T	A	18	31399263	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.70509474068065E-4	0.106
18	28979226	T	C	18	31399263	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.65507223873221E-4	0.008
18	28979226	T	G	18	31399263	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.5585258696348E-4	0.098
18	28979227	C	A	18	31399264	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.33913341625544E-4	0.008
18	28979227	C	G	18	31399264	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.2275111326132E-4	0.026
18	28979227	C	T	18	31399264	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.02466099146592E-5	0.004
18	28979228	A	C	18	31399265	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.08045141305918E-4	0.004
18	28979228	A	G	18	31399265	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.39529107280033E-4	0.034
18	28979228	A	T	18	31399265	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.88102589297528E-4	0.01
18	28979229	T	A	18	31399266	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0698920874908619	0.28
18	28979229	T	C	18	31399266	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00423274513058548	0.074
18	28979229	T	G	18	31399266	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998846522002823	0.858
18	28979230	T	A	18	31399267	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.296361364488253	0.55
18	28979230	T	C	18	31399267	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.144173157757118	0.288
18	28979230	T	G	18	31399267	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.296992629443793	0.506
18	28979231	T	A	18	31399268	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0103003426489954	0.064
18	28979231	T	C	18	31399268	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00225300724079751	0.012
18	28979231	T	G	18	31399268	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00629638455133952	0.04
18	28979232	C	A	18	31399269	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.802612146083041	0.57
18	28979232	C	G	18	31399269	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.996167260719725	0.894
18	28979232	C	T	18	31399269	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0484094160339772	0.224
18	28979233	A	C	18	31399270	y	y	splicing	DSG4(NM_001134453:exon9:c.1006-2A>C;NM_177986:exon9:c.1006-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1006-2A>C;ENST00000359747:exon9:c.1006-2A>C)	.	.	0.999988247793601	0.928
18	28979233	A	G	18	31399270	y	y	splicing	DSG4(NM_001134453:exon9:c.1006-2A>G;NM_177986:exon9:c.1006-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1006-2A>G;ENST00000359747:exon9:c.1006-2A>G)	.	.	0.999988247793601	0.928
18	28979233	A	T	18	31399270	y	y	splicing	DSG4(NM_001134453:exon9:c.1006-2A>T;NM_177986:exon9:c.1006-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1006-2A>T;ENST00000359747:exon9:c.1006-2A>T)	.	.	0.999988247793601	0.93
18	28979234	G	A	18	31399271	y	y	splicing	DSG4(NM_001134453:exon9:c.1006-1G>A;NM_177986:exon9:c.1006-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1006-1G>A;ENST00000359747:exon9:c.1006-1G>A)	.	.	0.999990361384395	0.938
18	28979234	G	C	18	31399271	y	y	splicing	DSG4(NM_001134453:exon9:c.1006-1G>C;NM_177986:exon9:c.1006-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1006-1G>C;ENST00000359747:exon9:c.1006-1G>C)	.	.	0.999990361384395	0.936
18	28979234	G	T	18	31399271	y	y	splicing	DSG4(NM_001134453:exon9:c.1006-1G>T;NM_177986:exon9:c.1006-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1006-1G>T;ENST00000359747:exon9:c.1006-1G>T)	.	.	0.999990361384395	0.938
18	28979235	A	C	18	31399272	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.A1006C:p.M336L;DSG4:NM_001134453:exon9:c.A1006C:p.M336L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.A1006C:p.M336L;ENSG00000175065:ENST00000308128:exon9:c.A1006C:p.M336L;	0.00163498316837008	0.024
18	28979235	A	G	18	31399272	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.A1006G:p.M336V;DSG4:NM_001134453:exon9:c.A1006G:p.M336V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.A1006G:p.M336V;ENSG00000175065:ENST00000308128:exon9:c.A1006G:p.M336V;	2.00617711866965E-5	0.016
18	28979235	A	T	18	31399272	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.A1006T:p.M336L;DSG4:NM_001134453:exon9:c.A1006T:p.M336L;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.A1006T:p.M336L;ENSG00000175065:ENST00000308128:exon9:c.A1006T:p.M336L;	0.00219829523400709	0.054
18	28979236	T	A	18	31399273	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.T1007A:p.M336K;DSG4:NM_001134453:exon9:c.T1007A:p.M336K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.T1007A:p.M336K;ENSG00000175065:ENST00000308128:exon9:c.T1007A:p.M336K;	4.47194191341911E-4	0.082
18	28979236	T	C	18	31399273	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.T1007C:p.M336T;DSG4:NM_001134453:exon9:c.T1007C:p.M336T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.T1007C:p.M336T;ENSG00000175065:ENST00000308128:exon9:c.T1007C:p.M336T;	7.52181824695511E-5	0.006
18	28979236	T	G	18	31399273	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.T1007G:p.M336R;DSG4:NM_001134453:exon9:c.T1007G:p.M336R;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.T1007G:p.M336R;ENSG00000175065:ENST00000308128:exon9:c.T1007G:p.M336R;	3.34303089843864E-4	0.01
18	28979504	C	A	18	31399541	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon9:c.C1275A:p.V425V;DSG4:NM_001134453:exon9:c.C1275A:p.V425V;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.C1275A:p.V425V;ENSG00000175065:ENST00000308128:exon9:c.C1275A:p.V425V;	0.00581599343881471	0.21
18	28979504	C	G	18	31399541	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon9:c.C1275G:p.V425V;DSG4:NM_001134453:exon9:c.C1275G:p.V425V;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.C1275G:p.V425V;ENSG00000175065:ENST00000308128:exon9:c.C1275G:p.V425V;	0.014243809515079	0.35
18	28979504	C	T	18	31399541	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon9:c.C1275T:p.V425V;DSG4:NM_001134453:exon9:c.C1275T:p.V425V;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.C1275T:p.V425V;ENSG00000175065:ENST00000308128:exon9:c.C1275T:p.V425V;	0.979305783577267	0.652
18	28979505	A	C	18	31399542	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon9:c.A1276C:p.R426R;DSG4:NM_001134453:exon9:c.A1276C:p.R426R;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.A1276C:p.R426R;ENSG00000175065:ENST00000308128:exon9:c.A1276C:p.R426R;	0.994288889876892	0.866
18	28979505	A	G	18	31399542	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.A1276G:p.R426G;DSG4:NM_001134453:exon9:c.A1276G:p.R426G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.A1276G:p.R426G;ENSG00000175065:ENST00000308128:exon9:c.A1276G:p.R426G;	0.995652168963863	0.818
18	28979505	A	T	18	31399542	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon9:c.A1276T:p.R426X;DSG4:NM_001134453:exon9:c.A1276T:p.R426X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon9:c.A1276T:p.R426X;ENSG00000175065:ENST00000308128:exon9:c.A1276T:p.R426X;	0.999948006496054	1.0
18	28979506	G	A	18	31399543	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.G1277A:p.R426K;DSG4:NM_001134453:exon9:c.G1277A:p.R426K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.G1277A:p.R426K;ENSG00000175065:ENST00000308128:exon9:c.G1277A:p.R426K;	0.999980126502715	0.982
18	28979506	G	C	18	31399543	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.G1277C:p.R426T;DSG4:NM_001134453:exon9:c.G1277C:p.R426T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.G1277C:p.R426T;ENSG00000175065:ENST00000308128:exon9:c.G1277C:p.R426T;	0.999994505940566	0.974
18	28979506	G	T	18	31399543	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon9:c.G1277T:p.R426I;DSG4:NM_001134453:exon9:c.G1277T:p.R426I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon9:c.G1277T:p.R426I;ENSG00000175065:ENST00000308128:exon9:c.G1277T:p.R426I;	0.999973294499262	1.0
18	28979507	G	A	18	31399544	y	y	splicing	DSG4(NM_001134453:exon9:c.1277+1G>A;NM_177986:exon9:c.1277+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1277+1G>A;ENST00000359747:exon9:c.1277+1G>A)	.	.	0.99996469115006	0.916
18	28979507	G	C	18	31399544	y	y	splicing	DSG4(NM_001134453:exon9:c.1277+1G>C;NM_177986:exon9:c.1277+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1277+1G>C;ENST00000359747:exon9:c.1277+1G>C)	.	.	0.999965722254998	0.888
18	28979507	G	T	18	31399544	y	y	splicing	DSG4(NM_001134453:exon9:c.1277+1G>T;NM_177986:exon9:c.1277+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1277+1G>T;ENST00000359747:exon9:c.1277+1G>T)	.	.	0.999966603939759	0.912
18	28979508	T	A	18	31399545	y	y	splicing	DSG4(NM_001134453:exon9:c.1277+2T>A;NM_177986:exon9:c.1277+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1277+2T>A;ENST00000359747:exon9:c.1277+2T>A)	.	.	0.999972155025474	0.844
18	28979508	T	C	18	31399545	y	y	splicing	DSG4(NM_001134453:exon9:c.1277+2T>C;NM_177986:exon9:c.1277+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1277+2T>C;ENST00000359747:exon9:c.1277+2T>C)	.	.	0.946087814407195	0.576
18	28979508	T	G	18	31399545	y	y	splicing	DSG4(NM_001134453:exon9:c.1277+2T>G;NM_177986:exon9:c.1277+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon9:c.1277+2T>G;ENST00000359747:exon9:c.1277+2T>G)	.	.	0.999969255906173	0.876
18	28979509	A	C	18	31399546	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999734844756108	0.864
18	28979509	A	G	18	31399546	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.842924623749888	0.61
18	28979509	A	T	18	31399546	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999261992610189	0.904
18	28979510	C	A	18	31399547	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.66673290912867E-4	0.168
18	28979510	C	G	18	31399547	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00141415406010889	0.17
18	28979510	C	T	18	31399547	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.25836934696959E-4	0.126
18	28979511	T	A	18	31399548	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.4665600546273E-5	0.01
18	28979511	T	C	18	31399548	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.14882818141856E-5	0.0
18	28979511	T	G	18	31399548	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.65251184772868E-5	0.02
18	28979512	G	A	18	31399549	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.65203217155126E-4	0.056
18	28979512	G	C	18	31399549	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00115708941948609	0.074
18	28979512	G	T	18	31399549	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.73345502474504E-4	0.04
18	28979513	C	A	18	31399550	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.1566904363955E-4	0.046
18	28979513	C	G	18	31399550	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.86429746887969E-5	0.0
18	28979513	C	T	18	31399550	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.25102316319552E-5	0.0
18	28979514	A	C	18	31399551	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.53131868609451E-4	0.0
18	28979514	A	G	18	31399551	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.72040858810984E-4	0.0
18	28979514	A	T	18	31399551	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.12657804316541E-4	0.0
18	28980832	A	C	18	31400869	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.33177719189093E-4	0.122
18	28980832	A	G	18	31400869	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.43311972237294E-4	0.102
18	28980832	A	T	18	31400869	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.49869272962832E-5	0.118
18	28980833	T	A	18	31400870	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.421089479293685	0.572
18	28980833	T	C	18	31400870	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.039106785282886	0.268
18	28980833	T	G	18	31400870	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999510642573235	0.928
18	28980834	T	A	18	31400871	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999293122921845	0.862
18	28980834	T	C	18	31400871	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.269158762164369	0.342
18	28980834	T	G	18	31400871	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998774169548336	0.872
18	28980835	T	A	18	31400872	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.485064426017971	0.688
18	28980835	T	C	18	31400872	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.47098890644505E-4	0.028
18	28980835	T	G	18	31400872	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.430099738679688	0.67
18	28980836	A	C	18	31400873	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.88863356375749E-5	0.004
18	28980836	A	G	18	31400873	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.44021120670464E-5	0.024
18	28980836	A	T	18	31400873	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.88863356375749E-5	0.004
18	28980837	A	C	18	31400874	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00188889581654421	0.058
18	28980837	A	G	18	31400874	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998965737360689	0.978
18	28980837	A	T	18	31400874	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00165442385731436	0.02
18	28980838	A	C	18	31400875	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.09654326905212E-4	0.016
18	28980838	A	G	18	31400875	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.99943372169628	0.974
18	28980838	A	T	18	31400875	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.34241376561682E-4	0.034
18	28980839	A	C	18	31400876	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00152789916077509	0.064
18	28980839	A	G	18	31400876	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998911935098658	0.934
18	28980839	A	T	18	31400876	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00121669192081154	0.058
18	28980840	A	C	18	31400877	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00641495151113209	0.092
18	28980840	A	G	18	31400877	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.954664833677868	0.666
18	28980840	A	T	18	31400877	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00533179525494926	0.102
18	28980841	C	A	18	31400878	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998545594945338	0.892
18	28980841	C	G	18	31400878	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999850970767469	0.844
18	28980841	C	T	18	31400878	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.107022205346368	0.164
18	28980842	A	C	18	31400879	y	y	splicing	DSG4(NM_001134453:exon10:c.1278-2A>C;NM_177986:exon10:c.1278-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1278-2A>C;ENST00000359747:exon10:c.1278-2A>C)	.	.	0.999952590261929	0.908
18	28980842	A	G	18	31400879	y	y	splicing	DSG4(NM_001134453:exon10:c.1278-2A>G;NM_177986:exon10:c.1278-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1278-2A>G;ENST00000359747:exon10:c.1278-2A>G)	.	.	0.999952590261929	0.908
18	28980842	A	T	18	31400879	y	y	splicing	DSG4(NM_001134453:exon10:c.1278-2A>T;NM_177986:exon10:c.1278-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1278-2A>T;ENST00000359747:exon10:c.1278-2A>T)	.	.	0.999952590261929	0.908
18	28980843	G	A	18	31400880	y	y	splicing	DSG4(NM_001134453:exon10:c.1278-1G>A;NM_177986:exon10:c.1278-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1278-1G>A;ENST00000359747:exon10:c.1278-1G>A)	.	.	0.999987863840286	0.904
18	28980843	G	C	18	31400880	y	y	splicing	DSG4(NM_001134453:exon10:c.1278-1G>C;NM_177986:exon10:c.1278-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1278-1G>C;ENST00000359747:exon10:c.1278-1G>C)	.	.	0.999987863840286	0.902
18	28980843	G	T	18	31400880	y	y	splicing	DSG4(NM_001134453:exon10:c.1278-1G>T;NM_177986:exon10:c.1278-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1278-1G>T;ENST00000359747:exon10:c.1278-1G>T)	.	.	0.999987863840286	0.902
18	28980844	A	C	18	31400881	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.A1278C:p.R426S;DSG4:NM_001134453:exon10:c.A1278C:p.R426S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.A1278C:p.R426S;ENSG00000175065:ENST00000308128:exon10:c.A1278C:p.R426S;	8.13522850377918E-5	0.11
18	28980844	A	G	18	31400881	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon10:c.A1278G:p.R426R;DSG4:NM_001134453:exon10:c.A1278G:p.R426R;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.A1278G:p.R426R;ENSG00000175065:ENST00000308128:exon10:c.A1278G:p.R426R;	2.93483168656953E-5	0.012
18	28980844	A	T	18	31400881	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.A1278T:p.R426S;DSG4:NM_001134453:exon10:c.A1278T:p.R426S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.A1278T:p.R426S;ENSG00000175065:ENST00000308128:exon10:c.A1278T:p.R426S;	6.95228903915626E-5	0.156
18	28980845	T	A	18	31400882	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.T1279A:p.Y427N;DSG4:NM_001134453:exon10:c.T1279A:p.Y427N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.T1279A:p.Y427N;ENSG00000175065:ENST00000308128:exon10:c.T1279A:p.Y427N;	0.28986718215828	0.346
18	28980845	T	C	18	31400882	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.T1279C:p.Y427H;DSG4:NM_001134453:exon10:c.T1279C:p.Y427H;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.T1279C:p.Y427H;ENSG00000175065:ENST00000308128:exon10:c.T1279C:p.Y427H;	0.271641774452614	0.328
18	28980845	T	G	18	31400882	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.T1279G:p.Y427D;DSG4:NM_001134453:exon10:c.T1279G:p.Y427D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.T1279G:p.Y427D;ENSG00000175065:ENST00000308128:exon10:c.T1279G:p.Y427D;	0.38330036012101	0.39
18	28980981	A	C	18	31401018	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.A1415C:p.D472A;DSG4:NM_001134453:exon10:c.A1415C:p.D472A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.A1415C:p.D472A;ENSG00000175065:ENST00000308128:exon10:c.A1415C:p.D472A;	0.610370808545065	0.46
18	28980981	A	G	18	31401018	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.A1415G:p.D472G;DSG4:NM_001134453:exon10:c.A1415G:p.D472G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.A1415G:p.D472G;ENSG00000175065:ENST00000308128:exon10:c.A1415G:p.D472G;	0.295079162673616	0.456
18	28980981	A	T	18	31401018	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.A1415T:p.D472V;DSG4:NM_001134453:exon10:c.A1415T:p.D472V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.A1415T:p.D472V;ENSG00000175065:ENST00000308128:exon10:c.A1415T:p.D472V;	0.891716128759368	0.49
18	28980982	T	A	18	31401019	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.T1416A:p.D472E;DSG4:NM_001134453:exon10:c.T1416A:p.D472E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.T1416A:p.D472E;ENSG00000175065:ENST00000308128:exon10:c.T1416A:p.D472E;	5.25079988915534E-4	0.124
18	28980982	T	C	18	31401019	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon10:c.T1416C:p.D472D;DSG4:NM_001134453:exon10:c.T1416C:p.D472D;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.T1416C:p.D472D;ENSG00000175065:ENST00000308128:exon10:c.T1416C:p.D472D;	0.00145473966652724	0.022
18	28980982	T	G	18	31401019	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.T1416G:p.D472E;DSG4:NM_001134453:exon10:c.T1416G:p.D472E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.T1416G:p.D472E;ENSG00000175065:ENST00000308128:exon10:c.T1416G:p.D472E;	0.00333190540301397	0.062
18	28980983	G	A	18	31401020	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.G1417A:p.D473N;DSG4:NM_001134453:exon10:c.G1417A:p.D473N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.G1417A:p.D473N;ENSG00000175065:ENST00000308128:exon10:c.G1417A:p.D473N;	0.999979060268637	0.992
18	28980983	G	C	18	31401020	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.G1417C:p.D473H;DSG4:NM_001134453:exon10:c.G1417C:p.D473H;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.G1417C:p.D473H;ENSG00000175065:ENST00000308128:exon10:c.G1417C:p.D473H;	0.99999377430892	0.978
18	28980983	G	T	18	31401020	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon10:c.G1417T:p.D473Y;DSG4:NM_001134453:exon10:c.G1417T:p.D473Y;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon10:c.G1417T:p.D473Y;ENSG00000175065:ENST00000308128:exon10:c.G1417T:p.D473Y;	0.999987383619488	0.998
18	28980984	G	A	18	31401021	y	y	splicing	DSG4(NM_001134453:exon10:c.1417+1G>A;NM_177986:exon10:c.1417+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1417+1G>A;ENST00000359747:exon10:c.1417+1G>A)	.	.	0.999989072007339	0.932
18	28980984	G	C	18	31401021	y	y	splicing	DSG4(NM_001134453:exon10:c.1417+1G>C;NM_177986:exon10:c.1417+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1417+1G>C;ENST00000359747:exon10:c.1417+1G>C)	.	.	0.999989072007339	0.932
18	28980984	G	T	18	31401021	y	y	splicing	DSG4(NM_001134453:exon10:c.1417+1G>T;NM_177986:exon10:c.1417+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1417+1G>T;ENST00000359747:exon10:c.1417+1G>T)	.	.	0.999989072007339	0.932
18	28980985	T	A	18	31401022	y	y	splicing	DSG4(NM_001134453:exon10:c.1417+2T>A;NM_177986:exon10:c.1417+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1417+2T>A;ENST00000359747:exon10:c.1417+2T>A)	.	.	0.999988247793601	0.928
18	28980985	T	C	18	31401022	y	y	splicing	DSG4(NM_001134453:exon10:c.1417+2T>C;NM_177986:exon10:c.1417+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1417+2T>C;ENST00000359747:exon10:c.1417+2T>C)	.	.	0.999931547473318	0.886
18	28980985	T	G	18	31401022	y	y	splicing	DSG4(NM_001134453:exon10:c.1417+2T>G;NM_177986:exon10:c.1417+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon10:c.1417+2T>G;ENST00000359747:exon10:c.1417+2T>G)	.	.	0.999988247793601	0.928
18	28980986	A	C	18	31401023	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999031810603917	0.876
18	28980986	A	G	18	31401023	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.889140068219624	0.52
18	28980986	A	T	18	31401023	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998278162208839	0.946
18	28980987	A	C	18	31401024	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.99401428987826	0.74
18	28980987	A	G	18	31401024	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.995958428378452	0.888
18	28980987	A	T	18	31401024	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998179369714669	0.924
18	28980988	G	A	18	31401025	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.99993159623752	0.976
18	28980988	G	C	18	31401025	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999910316883205	0.98
18	28980988	G	T	18	31401025	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999676752324828	0.874
18	28980989	A	C	18	31401026	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0429759072899996	0.16
18	28980989	A	G	18	31401026	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.005177750501839	0.054
18	28980989	A	T	18	31401026	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0032899924596692	0.07
18	28980990	A	C	18	31401027	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.012179125450082	0.024
18	28980990	A	G	18	31401027	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.010118603167481	0.024
18	28980990	A	T	18	31401027	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0105414316256806	0.018
18	28980991	A	C	18	31401028	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00325740311818285	0.004
18	28980991	A	G	18	31401028	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0012338591716885	0.0
18	28980991	A	T	18	31401028	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00295482651748679	0.004
18	28983367	T	A	18	31403404	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.60116381123923E-4	0.134
18	28983367	T	C	18	31403404	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.64177978300398E-4	0.016
18	28983367	T	G	18	31403404	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0105465765131988	0.156
18	28983368	T	A	18	31403405	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0216210501742676	0.3
18	28983368	T	C	18	31403405	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00143493677596396	0.066
18	28983368	T	G	18	31403405	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0195394853628196	0.312
18	28983369	A	C	18	31403406	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.18611370053195E-5	0.004
18	28983369	A	G	18	31403406	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.14191538373783E-5	0.002
18	28983369	A	T	18	31403406	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.19335532412666E-5	0.004
18	28983370	C	A	18	31403407	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.99410607847244E-4	0.052
18	28983370	C	G	18	31403407	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999397346729678	0.97
18	28983370	C	T	18	31403407	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.54053606381237E-5	0.002
18	28983371	T	A	18	31403408	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00413807660334039	0.15
18	28983371	T	C	18	31403408	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.40150507103835E-4	0.0
18	28983371	T	G	18	31403408	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00167847924368639	0.16
18	28983372	C	A	18	31403409	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.37374432954119E-5	0.014
18	28983372	C	G	18	31403409	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.74660568033823E-5	0.008
18	28983372	C	T	18	31403409	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.59793323597462E-5	0.0
18	28983373	T	A	18	31403410	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0280740224888962	0.334
18	28983373	T	C	18	31403410	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00370194878360498	0.136
18	28983373	T	G	18	31403410	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0303769616847963	0.342
18	28983374	T	A	18	31403411	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.443117394706868	0.574
18	28983374	T	C	18	31403411	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0316112329309956	0.278
18	28983374	T	G	18	31403411	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.460126677818946	0.556
18	28983375	T	A	18	31403412	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.77147493503865E-5	0.0
18	28983375	T	C	18	31403412	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.50418493623002E-5	0.0
18	28983375	T	G	18	31403412	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.66557112910807E-5	0.002
18	28983376	C	A	18	31403413	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999215551811016	0.786
18	28983376	C	G	18	31403413	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999583053659589	0.966
18	28983376	C	T	18	31403413	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0639873423987627	0.2
18	28983377	A	C	18	31403414	y	y	splicing	DSG4(NM_001134453:exon11:c.1418-2A>C;NM_177986:exon11:c.1418-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1418-2A>C;ENST00000359747:exon11:c.1418-2A>C)	.	.	0.999978952611685	0.928
18	28983377	A	G	18	31403414	y	y	splicing	DSG4(NM_001134453:exon11:c.1418-2A>G;NM_177986:exon11:c.1418-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1418-2A>G;ENST00000359747:exon11:c.1418-2A>G)	.	.	0.999978952611685	0.928
18	28983377	A	T	18	31403414	y	y	splicing	DSG4(NM_001134453:exon11:c.1418-2A>T;NM_177986:exon11:c.1418-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1418-2A>T;ENST00000359747:exon11:c.1418-2A>T)	.	.	0.999978952611685	0.93
18	28983378	G	A	18	31403415	y	y	splicing	DSG4(NM_001134453:exon11:c.1418-1G>A;NM_177986:exon11:c.1418-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1418-1G>A;ENST00000359747:exon11:c.1418-1G>A)	.	.	0.999990361384395	0.938
18	28983378	G	C	18	31403415	y	y	splicing	DSG4(NM_001134453:exon11:c.1418-1G>C;NM_177986:exon11:c.1418-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1418-1G>C;ENST00000359747:exon11:c.1418-1G>C)	.	.	0.999990361384395	0.936
18	28983378	G	T	18	31403415	y	y	splicing	DSG4(NM_001134453:exon11:c.1418-1G>T;NM_177986:exon11:c.1418-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1418-1G>T;ENST00000359747:exon11:c.1418-1G>T)	.	.	0.999990361384395	0.938
18	28983379	A	C	18	31403416	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.A1418C:p.D473A;DSG4:NM_001134453:exon11:c.A1418C:p.D473A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.A1418C:p.D473A;ENSG00000175065:ENST00000308128:exon11:c.A1418C:p.D473A;	0.517750002567718	0.606
18	28983379	A	G	18	31403416	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.A1418G:p.D473G;DSG4:NM_001134453:exon11:c.A1418G:p.D473G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.A1418G:p.D473G;ENSG00000175065:ENST00000308128:exon11:c.A1418G:p.D473G;	0.69204570932036	0.55
18	28983379	A	T	18	31403416	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.A1418T:p.D473V;DSG4:NM_001134453:exon11:c.A1418T:p.D473V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.A1418T:p.D473V;ENSG00000175065:ENST00000308128:exon11:c.A1418T:p.D473V;	0.67984732220758	0.564
18	28983380	T	A	18	31403417	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.T1419A:p.D473E;DSG4:NM_001134453:exon11:c.T1419A:p.D473E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.T1419A:p.D473E;ENSG00000175065:ENST00000308128:exon11:c.T1419A:p.D473E;	5.60838853830323E-4	0.06
18	28983380	T	C	18	31403417	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon11:c.T1419C:p.D473D;DSG4:NM_001134453:exon11:c.T1419C:p.D473D;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.T1419C:p.D473D;ENSG00000175065:ENST00000308128:exon11:c.T1419C:p.D473D;	4.90057547461067E-4	0.044
18	28983380	T	G	18	31403417	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.T1419G:p.D473E;DSG4:NM_001134453:exon11:c.T1419G:p.D473E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.T1419G:p.D473E;ENSG00000175065:ENST00000308128:exon11:c.T1419G:p.D473E;	5.8070890907902E-4	0.01
18	28983595	A	C	18	31403632	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.A1634C:p.N545T;DSG4:NM_001134453:exon11:c.A1634C:p.N545T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.A1634C:p.N545T;ENSG00000175065:ENST00000308128:exon11:c.A1634C:p.N545T;	5.73229144716882E-4	0.026
18	28983595	A	G	18	31403632	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.A1634G:p.N545S;DSG4:NM_001134453:exon11:c.A1634G:p.N545S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.A1634G:p.N545S;ENSG00000175065:ENST00000308128:exon11:c.A1634G:p.N545S;	8.83552585645008E-4	0.076
18	28983595	A	T	18	31403632	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.A1634T:p.N545I;DSG4:NM_001134453:exon11:c.A1634T:p.N545I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.A1634T:p.N545I;ENSG00000175065:ENST00000308128:exon11:c.A1634T:p.N545I;	0.0707193568469621	0.204
18	28983596	T	A	18	31403633	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.T1635A:p.N545K;DSG4:NM_001134453:exon11:c.T1635A:p.N545K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.T1635A:p.N545K;ENSG00000175065:ENST00000308128:exon11:c.T1635A:p.N545K;	6.74791132595496E-5	0.116
18	28983596	T	C	18	31403633	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon11:c.T1635C:p.N545N;DSG4:NM_001134453:exon11:c.T1635C:p.N545N;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.T1635C:p.N545N;ENSG00000175065:ENST00000308128:exon11:c.T1635C:p.N545N;	8.64129326404173E-6	0.01
18	28983596	T	G	18	31403633	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.T1635G:p.N545K;DSG4:NM_001134453:exon11:c.T1635G:p.N545K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.T1635G:p.N545K;ENSG00000175065:ENST00000308128:exon11:c.T1635G:p.N545K;	2.83177224444055E-4	0.094
18	28983597	G	A	18	31403634	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.G1636A:p.A546T;DSG4:NM_001134453:exon11:c.G1636A:p.A546T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.G1636A:p.A546T;ENSG00000175065:ENST00000308128:exon11:c.G1636A:p.A546T;	0.961611904452456	0.838
18	28983597	G	C	18	31403634	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.G1636C:p.A546P;DSG4:NM_001134453:exon11:c.G1636C:p.A546P;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.G1636C:p.A546P;ENSG00000175065:ENST00000308128:exon11:c.G1636C:p.A546P;	0.985029039009702	0.834
18	28983597	G	T	18	31403634	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon11:c.G1636T:p.A546S;DSG4:NM_001134453:exon11:c.G1636T:p.A546S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon11:c.G1636T:p.A546S;ENSG00000175065:ENST00000308128:exon11:c.G1636T:p.A546S;	0.918392667140357	0.488
18	28983598	G	A	18	31403635	y	y	splicing	DSG4(NM_001134453:exon11:c.1636+1G>A;NM_177986:exon11:c.1636+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1636+1G>A;ENST00000359747:exon11:c.1636+1G>A)	.	.	0.999971209564868	0.938
18	28983598	G	C	18	31403635	y	y	splicing	DSG4(NM_001134453:exon11:c.1636+1G>C;NM_177986:exon11:c.1636+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1636+1G>C;ENST00000359747:exon11:c.1636+1G>C)	.	.	0.999970205305079	0.936
18	28983598	G	T	18	31403635	y	y	splicing	DSG4(NM_001134453:exon11:c.1636+1G>T;NM_177986:exon11:c.1636+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1636+1G>T;ENST00000359747:exon11:c.1636+1G>T)	.	.	0.999971209564868	0.938
18	28983599	T	A	18	31403636	y	y	splicing	DSG4(NM_001134453:exon11:c.1636+2T>A;NM_177986:exon11:c.1636+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1636+2T>A;ENST00000359747:exon11:c.1636+2T>A)	.	.	0.999964896440643	0.936
18	28983599	T	C	18	31403636	y	y	splicing	DSG4(NM_001134453:exon11:c.1636+2T>C;NM_177986:exon11:c.1636+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1636+2T>C;ENST00000359747:exon11:c.1636+2T>C)	.	.	0.979246769799723	0.662
18	28983599	T	G	18	31403636	y	y	splicing	DSG4(NM_001134453:exon11:c.1636+2T>G;NM_177986:exon11:c.1636+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon11:c.1636+2T>G;ENST00000359747:exon11:c.1636+2T>G)	.	.	0.999963671976247	0.932
18	28983600	A	C	18	31403637	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.990888281062356	0.704
18	28983600	A	G	18	31403637	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0042484120785667	0.144
18	28983600	A	T	18	31403637	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.812080772399321	0.594
18	28983601	A	C	18	31403638	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.294378978513197	0.446
18	28983601	A	G	18	31403638	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.514166030190838	0.458
18	28983601	A	T	18	31403638	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.643944904466473	0.526
18	28983602	G	A	18	31403639	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999620230717191	0.932
18	28983602	G	C	18	31403639	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999865020437034	0.838
18	28983602	G	T	18	31403639	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999733496212283	0.908
18	28983603	T	A	18	31403640	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0173875635212957	0.298
18	28983603	T	C	18	31403640	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.029162788641791	0.322
18	28983603	T	G	18	31403640	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00254593064266452	0.242
18	28983604	G	A	18	31403641	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.69930370103191E-5	0.0
18	28983604	G	C	18	31403641	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.4887794681632E-5	0.0
18	28983604	G	T	18	31403641	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.57076726553018E-5	0.0
18	28983605	A	C	18	31403642	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.86894807564048E-5	0.0
18	28983605	A	G	18	31403642	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.8129078740904E-5	0.0
18	28983605	A	T	18	31403642	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.86894807564048E-5	0.0
18	28986028	C	A	18	31406065	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.43038789870239	0.5
18	28986028	C	G	18	31406065	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.13463095700376	0.498
18	28986028	C	T	18	31406065	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.45448953132597	0.644
18	28986029	T	A	18	31406066	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0912349945371822	0.398
18	28986029	T	C	18	31406066	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0128847588297803	0.214
18	28986029	T	G	18	31406066	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.110412570932166	0.354
18	28986030	T	A	18	31406067	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.98787804941963	0.678
18	28986030	T	C	18	31406067	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.620374370312637	0.582
18	28986030	T	G	18	31406067	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.955134296010397	0.724
18	28986031	C	A	18	31406068	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.08443530038673E-5	0.106
18	28986031	C	G	18	31406068	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.78602598860166E-5	0.1
18	28986031	C	T	18	31406068	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.55227576698874E-5	0.17
18	28986032	C	A	18	31406069	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0021078145195532	0.088
18	28986032	C	G	18	31406069	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00122768255224108	0.116
18	28986032	C	T	18	31406069	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.59317241015328E-5	0.0
18	28986033	A	C	18	31406070	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.50548311119582E-5	0.002
18	28986033	A	G	18	31406070	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.9637347850619E-5	0.008
18	28986033	A	T	18	31406070	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.62063327825141E-5	0.016
18	28986034	T	A	18	31406071	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.140131114825824	0.224
18	28986034	T	C	18	31406071	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0229165733934077	0.174
18	28986034	T	G	18	31406071	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999866771837519	0.956
18	28986035	T	A	18	31406072	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.088073139307662	0.358
18	28986035	T	C	18	31406072	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00401330980389082	0.168
18	28986035	T	G	18	31406072	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0773051879691238	0.302
18	28986036	T	A	18	31406073	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.41942586664738E-4	0.006
18	28986036	T	C	18	31406073	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.21477800832167E-5	0.01
18	28986036	T	G	18	31406073	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.10761987168417E-5	0.0
18	28986037	C	A	18	31406074	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0731682370870487	0.348
18	28986037	C	G	18	31406074	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.993204192129166	0.926
18	28986037	C	T	18	31406074	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.95871946761265E-4	0.016
18	28986038	A	C	18	31406075	y	y	splicing	DSG4(NM_001134453:exon12:c.1637-2A>C;NM_177986:exon12:c.1637-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1637-2A>C;ENST00000359747:exon12:c.1637-2A>C)	.	.	0.999988247793601	0.928
18	28986038	A	G	18	31406075	y	y	splicing	DSG4(NM_001134453:exon12:c.1637-2A>G;NM_177986:exon12:c.1637-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1637-2A>G;ENST00000359747:exon12:c.1637-2A>G)	.	.	0.999988247793601	0.928
18	28986038	A	T	18	31406075	y	y	splicing	DSG4(NM_001134453:exon12:c.1637-2A>T;NM_177986:exon12:c.1637-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1637-2A>T;ENST00000359747:exon12:c.1637-2A>T)	.	.	0.999988247793601	0.93
18	28986039	G	A	18	31406076	y	y	splicing	DSG4(NM_001134453:exon12:c.1637-1G>A;NM_177986:exon12:c.1637-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1637-1G>A;ENST00000359747:exon12:c.1637-1G>A)	.	.	0.999990361384395	0.938
18	28986039	G	C	18	31406076	y	y	splicing	DSG4(NM_001134453:exon12:c.1637-1G>C;NM_177986:exon12:c.1637-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1637-1G>C;ENST00000359747:exon12:c.1637-1G>C)	.	.	0.999990361384395	0.936
18	28986039	G	T	18	31406076	y	y	splicing	DSG4(NM_001134453:exon12:c.1637-1G>T;NM_177986:exon12:c.1637-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1637-1G>T;ENST00000359747:exon12:c.1637-1G>T)	.	.	0.999990361384395	0.936
18	28986040	C	A	18	31406077	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.C1637A:p.A546D;DSG4:NM_001134453:exon12:c.C1637A:p.A546D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.C1637A:p.A546D;ENSG00000175065:ENST00000308128:exon12:c.C1637A:p.A546D;	8.63964271951373E-4	0.118
18	28986040	C	G	18	31406077	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.C1637G:p.A546G;DSG4:NM_001134453:exon12:c.C1637G:p.A546G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.C1637G:p.A546G;ENSG00000175065:ENST00000308128:exon12:c.C1637G:p.A546G;	2.79141719537245E-4	0.1
18	28986040	C	T	18	31406077	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.C1637T:p.A546V;DSG4:NM_001134453:exon12:c.C1637T:p.A546V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.C1637T:p.A546V;ENSG00000175065:ENST00000308128:exon12:c.C1637T:p.A546V;	0.0512011917735396	0.104
18	28986041	T	A	18	31406078	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon12:c.T1638A:p.A546A;DSG4:NM_001134453:exon12:c.T1638A:p.A546A;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1638A:p.A546A;ENSG00000175065:ENST00000308128:exon12:c.T1638A:p.A546A;	4.0856047077405E-4	0.036
18	28986041	T	C	18	31406078	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon12:c.T1638C:p.A546A;DSG4:NM_001134453:exon12:c.T1638C:p.A546A;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1638C:p.A546A;ENSG00000175065:ENST00000308128:exon12:c.T1638C:p.A546A;	1.54355392601736E-4	0.038
18	28986041	T	G	18	31406078	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon12:c.T1638G:p.A546A;DSG4:NM_001134453:exon12:c.T1638G:p.A546A;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1638G:p.A546A;ENSG00000175065:ENST00000308128:exon12:c.T1638G:p.A546A;	1.58977024825746E-4	0.024
18	28986334	T	A	18	31406371	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.T1931A:p.I644N;DSG4:NM_001134453:exon12:c.T1931A:p.I644N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1931A:p.I644N;ENSG00000175065:ENST00000308128:exon12:c.T1931A:p.I644N;	0.00108841758349563	0.008
18	28986334	T	C	18	31406371	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.T1931C:p.I644T;DSG4:NM_001134453:exon12:c.T1931C:p.I644T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1931C:p.I644T;ENSG00000175065:ENST00000308128:exon12:c.T1931C:p.I644T;	7.45009000783071E-4	0.008
18	28986334	T	G	18	31406371	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.T1931G:p.I644S;DSG4:NM_001134453:exon12:c.T1931G:p.I644S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1931G:p.I644S;ENSG00000175065:ENST00000308128:exon12:c.T1931G:p.I644S;	0.0016422473316486	0.03
18	28986335	T	A	18	31406372	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon12:c.T1932A:p.I644I;DSG4:NM_001134453:exon12:c.T1932A:p.I644I;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1932A:p.I644I;ENSG00000175065:ENST00000308128:exon12:c.T1932A:p.I644I;	8.77358872732489E-5	0.134
18	28986335	T	C	18	31406372	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon12:c.T1932C:p.I644I;DSG4:NM_001134453:exon12:c.T1932C:p.I644I;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1932C:p.I644I;ENSG00000175065:ENST00000308128:exon12:c.T1932C:p.I644I;	5.40833537086587E-5	0.008
18	28986335	T	G	18	31406372	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.T1932G:p.I644M;DSG4:NM_001134453:exon12:c.T1932G:p.I644M;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1932G:p.I644M;ENSG00000175065:ENST00000308128:exon12:c.T1932G:p.I644M;	5.76235174870464E-4	0.086
18	28986336	T	A	18	31406373	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.T1933A:p.L645M;DSG4:NM_001134453:exon12:c.T1933A:p.L645M;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1933A:p.L645M;ENSG00000175065:ENST00000308128:exon12:c.T1933A:p.L645M;	1.86889725584849E-5	0.006
18	28986336	T	C	18	31406373	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon12:c.T1933C:p.L645L;DSG4:NM_001134453:exon12:c.T1933C:p.L645L;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1933C:p.L645L;ENSG00000175065:ENST00000308128:exon12:c.T1933C:p.L645L;	5.03254084679844E-5	0.052
18	28986336	T	G	18	31406373	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon12:c.T1933G:p.L645V;DSG4:NM_001134453:exon12:c.T1933G:p.L645V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon12:c.T1933G:p.L645V;ENSG00000175065:ENST00000308128:exon12:c.T1933G:p.L645V;	1.45239606059295E-4	0.04
18	28986337	G	A	18	31406374	y	y	splicing	DSG4(NM_001134453:exon12:c.1933+1G>A;NM_177986:exon12:c.1933+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1933+1G>A;ENST00000359747:exon12:c.1933+1G>A)	.	.	0.99996469115006	0.908
18	28986337	G	C	18	31406374	y	y	splicing	DSG4(NM_001134453:exon12:c.1933+1G>C;NM_177986:exon12:c.1933+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1933+1G>C;ENST00000359747:exon12:c.1933+1G>C)	.	.	0.999965722254998	0.864
18	28986337	G	T	18	31406374	y	y	splicing	DSG4(NM_001134453:exon12:c.1933+1G>T;NM_177986:exon12:c.1933+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1933+1G>T;ENST00000359747:exon12:c.1933+1G>T)	.	.	0.99996469115006	0.904
18	28986338	T	A	18	31406375	y	y	splicing	DSG4(NM_001134453:exon12:c.1933+2T>A;NM_177986:exon12:c.1933+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1933+2T>A;ENST00000359747:exon12:c.1933+2T>A)	.	.	0.999971317418422	0.888
18	28986338	T	C	18	31406375	y	y	splicing	DSG4(NM_001134453:exon12:c.1933+2T>C;NM_177986:exon12:c.1933+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1933+2T>C;ENST00000359747:exon12:c.1933+2T>C)	.	.	0.996666762785628	0.688
18	28986338	T	G	18	31406375	y	y	splicing	DSG4(NM_001134453:exon12:c.1933+2T>G;NM_177986:exon12:c.1933+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon12:c.1933+2T>G;ENST00000359747:exon12:c.1933+2T>G)	.	.	0.999972155025474	0.842
18	28986339	A	C	18	31406376	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.996169366244823	0.716
18	28986339	A	G	18	31406376	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00385818701904606	0.052
18	28986339	A	T	18	31406376	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.996619583725676	0.71
18	28986340	A	C	18	31406377	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.976710595238643	0.724
18	28986340	A	G	18	31406377	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998033536528285	0.914
18	28986340	A	T	18	31406377	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.997349310708989	0.862
18	28986341	G	A	18	31406378	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999984166337008	0.994
18	28986341	G	C	18	31406378	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999993320979416	0.986
18	28986341	G	T	18	31406378	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999990690024462	0.998
18	28986342	T	A	18	31406379	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.79176964495959	0.626
18	28986342	T	C	18	31406379	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.864165093813246	0.706
18	28986342	T	G	18	31406379	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.752096592215905	0.668
18	28986343	A	C	18	31406380	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.7833491230417E-4	0.002
18	28986343	A	G	18	31406380	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.7833491230417E-4	0.0
18	28986343	A	T	18	31406380	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.8886929965288E-5	0.0
18	28986344	C	A	18	31406381	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.22307183470442E-4	0.072
18	28986344	C	G	18	31406381	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.47953195676852E-4	0.026
18	28986344	C	T	18	31406381	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.84303723760699E-4	0.018
18	28989403	T	A	18	31409440	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.411189562955094	0.61
18	28989403	T	C	18	31409440	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00117075828299804	0.07
18	28989403	T	G	18	31409440	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.1804577022859	0.502
18	28989404	T	A	18	31409441	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.417772836260807	0.5
18	28989404	T	C	18	31409441	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.57854299255069E-4	0.088
18	28989404	T	G	18	31409441	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0335913755965454	0.436
18	28989405	T	A	18	31409442	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.382042077147387	0.462
18	28989405	T	C	18	31409442	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.43467841348019E-4	0.058
18	28989405	T	G	18	31409442	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00486753306503541	0.358
18	28989406	C	A	18	31409443	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00166070398292762	0.092
18	28989406	C	G	18	31409443	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.84387974792238E-4	0.098
18	28989406	C	T	18	31409443	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.95182540056588E-4	0.086
18	28989407	T	A	18	31409444	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0142501209920277	0.296
18	28989407	T	C	18	31409444	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.17325544335385E-5	0.006
18	28989407	T	G	18	31409444	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.36105154736347E-4	0.238
18	28989408	T	A	18	31409445	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.991800951799279	0.98
18	28989408	T	C	18	31409445	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.03371900955974E-4	0.016
18	28989408	T	G	18	31409445	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.31038910790949E-4	0.092
18	28989409	G	A	18	31409446	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.997033049375765	0.99
18	28989409	G	C	18	31409446	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.34581629370844E-5	0.002
18	28989409	G	T	18	31409446	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.24379231996332E-5	0.006
18	28989410	G	A	18	31409447	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.162211878209166	0.596
18	28989410	G	C	18	31409447	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.80932562428005E-6	0.0
18	28989410	G	T	18	31409447	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.92286654734404E-6	0.002
18	28989411	G	A	18	31409448	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.01716866479807E-4	0.03
18	28989411	G	C	18	31409448	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.34747399009529E-5	0.024
18	28989411	G	T	18	31409448	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.18979335267066E-4	0.064
18	28989412	C	A	18	31409449	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.963474704629761	0.864
18	28989412	C	G	18	31409449	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.990127621113891	0.754
18	28989412	C	T	18	31409449	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0120012327049211	0.342
18	28989413	A	C	18	31409450	y	y	splicing	DSG4(NM_001134453:exon13:c.1934-2A>C;NM_177986:exon13:c.1934-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.1934-2A>C;ENST00000359747:exon13:c.1934-2A>C)	.	.	0.999914060997041	0.898
18	28989413	A	G	18	31409450	y	y	splicing	DSG4(NM_001134453:exon13:c.1934-2A>G;NM_177986:exon13:c.1934-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.1934-2A>G;ENST00000359747:exon13:c.1934-2A>G)	.	.	0.999914060997041	0.898
18	28989413	A	T	18	31409450	y	y	splicing	DSG4(NM_001134453:exon13:c.1934-2A>T;NM_177986:exon13:c.1934-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.1934-2A>T;ENST00000359747:exon13:c.1934-2A>T)	.	.	0.999914060997041	0.886
18	28989414	G	A	18	31409451	y	y	splicing	DSG4(NM_001134453:exon13:c.1934-1G>A;NM_177986:exon13:c.1934-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.1934-1G>A;ENST00000359747:exon13:c.1934-1G>A)	.	.	0.999982673583371	0.886
18	28989414	G	C	18	31409451	y	y	splicing	DSG4(NM_001134453:exon13:c.1934-1G>C;NM_177986:exon13:c.1934-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.1934-1G>C;ENST00000359747:exon13:c.1934-1G>C)	.	.	0.999980595997505	0.878
18	28989414	G	T	18	31409451	y	y	splicing	DSG4(NM_001134453:exon13:c.1934-1G>T;NM_177986:exon13:c.1934-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.1934-1G>T;ENST00000359747:exon13:c.1934-1G>T)	.	.	0.999980595997505	0.876
18	28989415	T	A	18	31409452	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon13:c.T1934A:p.L645X;DSG4:NM_001134453:exon13:c.T1934A:p.L645X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon13:c.T1934A:p.L645X;ENSG00000175065:ENST00000308128:exon13:c.T1934A:p.L645X;	0.00304003555622512	0.398
18	28989415	T	C	18	31409452	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.T1934C:p.L645S;DSG4:NM_001134453:exon13:c.T1934C:p.L645S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.T1934C:p.L645S;ENSG00000175065:ENST00000308128:exon13:c.T1934C:p.L645S;	6.24832103678004E-4	0.042
18	28989415	T	G	18	31409452	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.T1934G:p.L645W;DSG4:NM_001134453:exon13:c.T1934G:p.L645W;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.T1934G:p.L645W;ENSG00000175065:ENST00000308128:exon13:c.T1934G:p.L645W;	0.00332263879886344	0.264
18	28989416	G	A	18	31409453	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon13:c.G1935A:p.L645L;DSG4:NM_001134453:exon13:c.G1935A:p.L645L;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G1935A:p.L645L;ENSG00000175065:ENST00000308128:exon13:c.G1935A:p.L645L;	4.86831985158055E-4	0.054
18	28989416	G	C	18	31409453	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.G1935C:p.L645F;DSG4:NM_001134453:exon13:c.G1935C:p.L645F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G1935C:p.L645F;ENSG00000175065:ENST00000308128:exon13:c.G1935C:p.L645F;	4.52400686372416E-5	0.112
18	28989416	G	T	18	31409453	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.G1935T:p.L645F;DSG4:NM_001134453:exon13:c.G1935T:p.L645F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G1935T:p.L645F;ENSG00000175065:ENST00000308128:exon13:c.G1935T:p.L645F;	2.53851230704374E-4	0.244
18	28989552	A	C	18	31409589	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon13:c.A2071C:p.R691R;DSG4:NM_001134453:exon13:c.A2071C:p.R691R;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.A2071C:p.R691R;ENSG00000175065:ENST00000308128:exon13:c.A2071C:p.R691R;	7.96238277796726E-5	0.0
18	28989552	A	G	18	31409589	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.A2071G:p.R691G;DSG4:NM_001134453:exon13:c.A2071G:p.R691G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.A2071G:p.R691G;ENSG00000175065:ENST00000308128:exon13:c.A2071G:p.R691G;	0.00217893875186	0.092
18	28989552	A	T	18	31409589	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.A2071T:p.R691W;DSG4:NM_001134453:exon13:c.A2071T:p.R691W;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.A2071T:p.R691W;ENSG00000175065:ENST00000308128:exon13:c.A2071T:p.R691W;	0.0424470741640285	0.176
18	28989553	G	A	18	31409590	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.G2072A:p.R691K;DSG4:NM_001134453:exon13:c.G2072A:p.R691K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G2072A:p.R691K;ENSG00000175065:ENST00000308128:exon13:c.G2072A:p.R691K;	3.83841367158898E-4	0.036
18	28989553	G	C	18	31409590	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.G2072C:p.R691T;DSG4:NM_001134453:exon13:c.G2072C:p.R691T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G2072C:p.R691T;ENSG00000175065:ENST00000308128:exon13:c.G2072C:p.R691T;	0.0432457220600222	0.268
18	28989553	G	T	18	31409590	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.G2072T:p.R691M;DSG4:NM_001134453:exon13:c.G2072T:p.R691M;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G2072T:p.R691M;ENSG00000175065:ENST00000308128:exon13:c.G2072T:p.R691M;	0.0674347575921297	0.208
18	28989554	G	A	18	31409591	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon13:c.G2073A:p.R691R;DSG4:NM_001134453:exon13:c.G2073A:p.R691R;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G2073A:p.R691R;ENSG00000175065:ENST00000308128:exon13:c.G2073A:p.R691R;	0.600874685116052	0.618
18	28989554	G	C	18	31409591	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.G2073C:p.R691S;DSG4:NM_001134453:exon13:c.G2073C:p.R691S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G2073C:p.R691S;ENSG00000175065:ENST00000308128:exon13:c.G2073C:p.R691S;	0.989793422845426	0.888
18	28989554	G	T	18	31409591	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon13:c.G2073T:p.R691S;DSG4:NM_001134453:exon13:c.G2073T:p.R691S;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon13:c.G2073T:p.R691S;ENSG00000175065:ENST00000308128:exon13:c.G2073T:p.R691S;	0.985650841498463	0.904
18	28989555	G	A	18	31409592	y	y	splicing	DSG4(NM_001134453:exon13:c.2073+1G>A;NM_177986:exon13:c.2073+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.2073+1G>A;ENST00000359747:exon13:c.2073+1G>A)	.	.	0.999990361384395	0.938
18	28989555	G	C	18	31409592	y	y	splicing	DSG4(NM_001134453:exon13:c.2073+1G>C;NM_177986:exon13:c.2073+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.2073+1G>C;ENST00000359747:exon13:c.2073+1G>C)	.	.	0.999990361384395	0.938
18	28989555	G	T	18	31409592	y	y	splicing	DSG4(NM_001134453:exon13:c.2073+1G>T;NM_177986:exon13:c.2073+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.2073+1G>T;ENST00000359747:exon13:c.2073+1G>T)	.	.	0.999990361384395	0.938
18	28989556	T	A	18	31409593	y	y	splicing	DSG4(NM_001134453:exon13:c.2073+2T>A;NM_177986:exon13:c.2073+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.2073+2T>A;ENST00000359747:exon13:c.2073+2T>A)	.	.	0.999988247793601	0.932
18	28989556	T	C	18	31409593	y	y	splicing	DSG4(NM_001134453:exon13:c.2073+2T>C;NM_177986:exon13:c.2073+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.2073+2T>C;ENST00000359747:exon13:c.2073+2T>C)	.	.	0.99340600729494	0.692
18	28989556	T	G	18	31409593	y	y	splicing	DSG4(NM_001134453:exon13:c.2073+2T>G;NM_177986:exon13:c.2073+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon13:c.2073+2T>G;ENST00000359747:exon13:c.2073+2T>G)	.	.	0.999988247793601	0.932
18	28989557	A	C	18	31409594	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994815632352824	0.744
18	28989557	A	G	18	31409594	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.002871702034548	0.052
18	28989557	A	T	18	31409594	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.973356245460919	0.634
18	28989558	A	C	18	31409595	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.734686538647323	0.554
18	28989558	A	G	18	31409595	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.945705118521248	0.664
18	28989558	A	T	18	31409595	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.978276208611441	0.648
18	28989559	G	A	18	31409596	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999728276170218	0.92
18	28989559	G	C	18	31409596	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999868253513877	0.858
18	28989559	G	T	18	31409596	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999657500235012	0.836
18	28989560	T	A	18	31409597	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0860068252258917	0.386
18	28989560	T	C	18	31409597	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0310453345378802	0.396
18	28989560	T	G	18	31409597	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0355106052509856	0.28
18	28989561	G	A	18	31409598	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.30477579161392E-5	0.0
18	28989561	G	C	18	31409598	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.30477579161392E-5	0.0
18	28989561	G	T	18	31409598	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.15941453541388E-5	0.004
18	28989562	G	A	18	31409599	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.24453633365032E-5	0.0
18	28989562	G	C	18	31409599	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.36338240590517E-5	0.0
18	28989562	G	T	18	31409599	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.36338240590517E-5	0.002
18	28989696	T	A	18	31409733	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.39826558468951E-5	0.01
18	28989696	T	C	18	31409733	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.45170072801036E-5	0.01
18	28989696	T	G	18	31409733	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.45170072801036E-5	0.01
18	28989697	T	A	18	31409734	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00110336656407202	0.004
18	28989697	T	C	18	31409734	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.12261273777789E-4	0.002
18	28989697	T	G	18	31409734	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.12261273777789E-4	0.002
18	28989698	T	A	18	31409735	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00156982018578896	0.002
18	28989698	T	C	18	31409735	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00156982018578896	0.004
18	28989698	T	G	18	31409735	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00156982018578896	0.006
18	28989699	T	A	18	31409736	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.56558608309418E-4	0.01
18	28989699	T	C	18	31409736	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.72570449881162E-4	0.012
18	28989699	T	G	18	31409736	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.72570449881162E-4	0.012
18	28989700	C	A	18	31409737	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.5364181533214E-5	0.002
18	28989700	C	G	18	31409737	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.5364181533214E-5	0.0
18	28989700	C	T	18	31409737	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	6.24453633365032E-5	0.0
18	28989701	T	A	18	31409738	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.05918261028706E-4	0.0
18	28989701	T	C	18	31409738	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.9469183429777E-5	0.0
18	28989701	T	G	18	31409738	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.9469183429777E-5	0.0
18	28989702	T	A	18	31409739	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00378904365268926	0.034
18	28989702	T	C	18	31409739	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00371653993790341	0.016
18	28989702	T	G	18	31409739	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00371653993790341	0.016
18	28989703	T	A	18	31409740	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00378904365268926	0.022
18	28989703	T	C	18	31409740	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00371653993790341	0.02
18	28989703	T	G	18	31409740	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00371653993790341	0.018
18	28989704	T	A	18	31409741	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.80257671126134E-4	0.004
18	28989704	T	C	18	31409741	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.6236468669626E-4	0.0
18	28989704	T	G	18	31409741	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.6236468669626E-4	0.0
18	28989705	C	A	18	31409742	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.56029930961783E-4	0.054
18	28989705	C	G	18	31409742	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.96310068051395E-4	0.054
18	28989705	C	T	18	31409742	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.49003403242113E-4	0.046
18	28989706	A	C	18	31409743	y	y	splicing	DSG4(NM_177986:exon14:c.2074-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2074-2A>C)	.	.	0.803605016897643	0.764
18	28989706	A	G	18	31409743	y	y	splicing	DSG4(NM_177986:exon14:c.2074-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2074-2A>G)	.	.	0.803605016897643	0.764
18	28989706	A	T	18	31409743	y	y	splicing	DSG4(NM_177986:exon14:c.2074-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2074-2A>T)	.	.	0.803605016897643	0.756
18	28989707	G	A	18	31409744	y	y	splicing	DSG4(NM_177986:exon14:c.2074-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2074-1G>A)	.	.	0.988015702533422	0.862
18	28989707	G	C	18	31409744	y	y	splicing	DSG4(NM_177986:exon14:c.2074-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2074-1G>C)	.	.	0.988015702533422	0.864
18	28989707	G	T	18	31409744	y	y	splicing	DSG4(NM_177986:exon14:c.2074-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2074-1G>T)	.	.	0.988015702533422	0.864
18	28989708	G	A	18	31409745	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.G2074A:p.D692N;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.G2074A:p.D692N;	0.988015702533422	0.856
18	28989708	G	C	18	31409745	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.G2074C:p.D692H;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.G2074C:p.D692H;	0.990483331831657	0.888
18	28989708	G	T	18	31409745	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.G2074T:p.D692Y;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.G2074T:p.D692Y;	0.987045631825906	0.852
18	28989709	A	C	18	31409746	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.A2075C:p.D692A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.A2075C:p.D692A;	0.00378904365268926	0.024
18	28989709	A	G	18	31409746	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.A2075G:p.D692G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.A2075G:p.D692G;	0.491590174283257	0.736
18	28989709	A	T	18	31409746	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.A2075T:p.D692V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.A2075T:p.D692V;	9.41874529882021E-4	0.056
18	28989769	C	A	18	31409806	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.C2135A:p.S712Y;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.C2135A:p.S712Y;	0.993115980931245	0.926
18	28989769	C	G	18	31409806	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.C2135G:p.S712C;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.C2135G:p.S712C;	0.993819833547158	0.918
18	28989769	C	T	18	31409806	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.C2135T:p.S712F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.C2135T:p.S712F;	0.993115980931245	0.922
18	28989770	T	A	18	31409807	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon14:c.T2136A:p.S712S;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.T2136A:p.S712S;	1.60400163191572E-4	0.0
18	28989770	T	C	18	31409807	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon14:c.T2136C:p.S712S;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.T2136C:p.S712S;	1.56066455516392E-4	0.0
18	28989770	T	G	18	31409807	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon14:c.T2136G:p.S712S;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.T2136G:p.S712S;	1.56066455516392E-4	0.0
18	28989771	G	A	18	31409808	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.G2137A:p.E713K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.G2137A:p.E713K;	0.992210540431992	0.852
18	28989771	G	C	18	31409808	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon14:c.G2137C:p.E713Q;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000308128:exon14:c.G2137C:p.E713Q;	0.992210540431992	0.866
18	28989771	G	T	18	31409808	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon14:c.G2137T:p.E713X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000308128:exon14:c.G2137T:p.E713X;	0.99455119184603	0.956
18	28989772	G	A	18	31409809	y	y	splicing	DSG4(NM_177986:exon14:c.2137+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2137+1G>A)	.	.	0.993115980931245	0.926
18	28989772	G	C	18	31409809	y	y	splicing	DSG4(NM_177986:exon14:c.2137+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2137+1G>C)	.	.	0.993819833547158	0.908
18	28989772	G	T	18	31409809	y	y	splicing	DSG4(NM_177986:exon14:c.2137+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2137+1G>T)	.	.	0.993115980931245	0.92
18	28989773	T	A	18	31409810	y	y	splicing	DSG4(NM_177986:exon14:c.2137+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2137+2T>A)	.	.	0.865818055659853	0.83
18	28989773	T	C	18	31409810	y	y	splicing	DSG4(NM_177986:exon14:c.2137+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2137+2T>C)	.	.	0.867693502443649	0.804
18	28989773	T	G	18	31409810	y	y	splicing	DSG4(NM_177986:exon14:c.2137+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon14:c.2137+2T>G)	.	.	0.867693502443649	0.804
18	28989774	C	A	18	31409811	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00406579574933411	0.046
18	28989774	C	G	18	31409811	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00261102217652179	0.078
18	28989774	C	T	18	31409811	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00352144084188001	0.042
18	28989775	A	C	18	31409812	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0944221853156123	0.41
18	28989775	A	G	18	31409812	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0944221853156123	0.412
18	28989775	A	T	18	31409812	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.149512601100693	0.522
18	28989776	G	A	18	31409813	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.125124380715384	0.244
18	28989776	G	C	18	31409813	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0704096007999908	0.144
18	28989776	G	T	18	31409813	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0833934641830958	0.218
18	28989777	T	A	18	31409814	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.61479178318682E-4	0.07
18	28989777	T	C	18	31409814	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.65277902440513E-4	0.074
18	28989777	T	G	18	31409814	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.65277902440513E-4	0.074
18	28989778	A	C	18	31409815	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.2208282427977E-4	0.002
18	28989778	A	G	18	31409815	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.2208282427977E-4	0.002
18	28989778	A	T	18	31409815	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.28852432169768E-5	0.018
18	28989779	G	A	18	31409816	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.06845020714709E-5	0.012
18	28989779	G	C	18	31409816	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.29041425055355E-5	0.016
18	28989779	G	T	18	31409816	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.06845020714709E-5	0.03
18	28991061	T	A	18	31411098	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.04425026385212E-4	0.152
18	28991061	T	C	18	31411098	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00286109664247147	0.116
18	28991061	T	G	18	31411098	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00147263686276107	0.046
18	28991062	C	A	18	31411099	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.713819288137E-4	0.088
18	28991062	C	G	18	31411099	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00150747244291827	0.074
18	28991062	C	T	18	31411099	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.25654472852808E-4	0.002
18	28991063	T	A	18	31411100	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00196517345517625	0.26
18	28991063	T	C	18	31411100	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0015803414372372	0.086
18	28991063	T	G	18	31411100	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00204737455403804	0.198
18	28991064	C	A	18	31411101	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00339081654206551	0.072
18	28991064	C	G	18	31411101	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.92848006859722E-4	0.068
18	28991064	C	T	18	31411101	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.43694722150139E-5	0.024
18	28991065	T	A	18	31411102	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.57214665181371E-4	0.142
18	28991065	T	C	18	31411102	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.6734063232817E-6	0.002
18	28991065	T	G	18	31411102	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.06876277812077E-4	0.098
18	28991066	T	A	18	31411103	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00752458120274471	0.15
18	28991066	T	C	18	31411103	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.62929105186415E-4	0.052
18	28991066	T	G	18	31411103	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00127938197018573	0.056
18	28991067	T	A	18	31411104	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.997247654246805	0.82
18	28991067	T	C	18	31411104	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.08552660066973E-5	0.118
18	28991067	T	G	18	31411104	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00119837672601655	0.14
18	28991068	G	A	18	31411105	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.39418392139053E-5	0.008
18	28991068	G	C	18	31411105	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.77493600810019E-5	0.006
18	28991068	G	T	18	31411105	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	5.51290705605494E-5	0.028
18	28991069	T	A	18	31411106	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.52139855870253E-4	0.0
18	28991069	T	C	18	31411106	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.08368050722303E-5	0.052
18	28991069	T	G	18	31411106	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.01294859351156E-4	0.05
18	28991070	C	A	18	31411107	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.544954102883373	0.596
18	28991070	C	G	18	31411107	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999539628953228	0.764
18	28991070	C	T	18	31411107	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00122854359166436	0.066
18	28991071	A	C	18	31411108	y	y	splicing	DSG4(NM_001134453:exon14:c.2074-2A>C)	.	.	splicing	ENSG00000175065(ENST00000359747:exon14:c.2074-2A>C)	.	.	0.99637861143533	0.416
18	28991071	A	G	18	31411108	y	y	splicing	DSG4(NM_001134453:exon14:c.2074-2A>G)	.	.	splicing	ENSG00000175065(ENST00000359747:exon14:c.2074-2A>G)	.	.	0.99637861143533	0.414
18	28991071	A	T	18	31411108	y	y	splicing	DSG4(NM_001134453:exon14:c.2074-2A>T)	.	.	splicing	ENSG00000175065(ENST00000359747:exon14:c.2074-2A>T)	.	.	0.99637861143533	0.402
18	28991072	G	A	18	31411109	y	y	splicing	DSG4(NM_001134453:exon14:c.2074-1G>A)	.	.	splicing	ENSG00000175065(ENST00000359747:exon14:c.2074-1G>A)	.	.	0.999901618060653	0.644
18	28991072	G	C	18	31411109	y	y	splicing	DSG4(NM_001134453:exon14:c.2074-1G>C)	.	.	splicing	ENSG00000175065(ENST00000359747:exon14:c.2074-1G>C)	.	.	0.999901618060653	0.622
18	28991072	G	T	18	31411109	y	y	splicing	DSG4(NM_001134453:exon14:c.2074-1G>T)	.	.	splicing	ENSG00000175065(ENST00000359747:exon14:c.2074-1G>T)	.	.	0.999901618060653	0.63
18	28991073	C	A	18	31411110	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_001134453:exon14:c.C2074A:p.L692I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.C2074A:p.L692I;	6.55839782639238E-5	0.002
18	28991073	C	G	18	31411110	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_001134453:exon14:c.C2074G:p.L692V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.C2074G:p.L692V;	1.53702783456289E-4	0.282
18	28991073	C	T	18	31411110	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_001134453:exon14:c.C2074T:p.L692F;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.C2074T:p.L692F;	0.0012943102554457	0.212
18	28991074	T	A	18	31411111	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_001134453:exon14:c.T2075A:p.L692H;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.T2075A:p.L692H;	0.00118926595230006	0.216
18	28991074	T	C	18	31411111	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_001134453:exon14:c.T2075C:p.L692P;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.T2075C:p.L692P;	0.00143131621862193	0.094
18	28991074	T	G	18	31411111	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_001134453:exon14:c.T2075G:p.L692R;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.T2075G:p.L692R;	5.10606962649549E-4	0.102
18	28991409	G	A	18	31411446	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon15:c.G2353A:p.E785K;DSG4:NM_001134453:exon14:c.G2410A:p.E804K;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.G2410A:p.E804K;ENSG00000175065:ENST00000308128:exon15:c.G2353A:p.E785K;	0.959577415532313	0.65
18	28991409	G	C	18	31411446	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon15:c.G2353C:p.E785Q;DSG4:NM_001134453:exon14:c.G2410C:p.E804Q;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.G2410C:p.E804Q;ENSG00000175065:ENST00000308128:exon15:c.G2353C:p.E785Q;	0.00170057675039135	0.048
18	28991409	G	T	18	31411446	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon15:c.G2353T:p.E785X;DSG4:NM_001134453:exon14:c.G2410T:p.E804X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon14:c.G2410T:p.E804X;ENSG00000175065:ENST00000308128:exon15:c.G2353T:p.E785X;	0.998686351923403	0.776
18	28991410	A	C	18	31411447	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon15:c.A2354C:p.E785A;DSG4:NM_001134453:exon14:c.A2411C:p.E804A;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.A2411C:p.E804A;ENSG00000175065:ENST00000308128:exon15:c.A2354C:p.E785A;	0.999682476766357	0.992
18	28991410	A	G	18	31411447	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon15:c.A2354G:p.E785G;DSG4:NM_001134453:exon14:c.A2411G:p.E804G;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.A2411G:p.E804G;ENSG00000175065:ENST00000308128:exon15:c.A2354G:p.E785G;	0.999725351200365	0.994
18	28991410	A	T	18	31411447	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon15:c.A2354T:p.E785V;DSG4:NM_001134453:exon14:c.A2411T:p.E804V;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.A2411T:p.E804V;ENSG00000175065:ENST00000308128:exon15:c.A2354T:p.E785V;	0.999814923412205	1.0
18	28991411	G	A	18	31411448	y	y	exonic	DSG4	synonymous SNV	DSG4:NM_177986:exon15:c.G2355A:p.E785E;DSG4:NM_001134453:exon14:c.G2412A:p.E804E;	exonic	ENSG00000175065	synonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.G2412A:p.E804E;ENSG00000175065:ENST00000308128:exon15:c.G2355A:p.E785E;	0.999957445563316	0.978
18	28991411	G	C	18	31411448	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon15:c.G2355C:p.E785D;DSG4:NM_001134453:exon14:c.G2412C:p.E804D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.G2412C:p.E804D;ENSG00000175065:ENST00000308128:exon15:c.G2355C:p.E785D;	0.999986769008889	0.986
18	28991411	G	T	18	31411448	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon15:c.G2355T:p.E785D;DSG4:NM_001134453:exon14:c.G2412T:p.E804D;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon14:c.G2412T:p.E804D;ENSG00000175065:ENST00000308128:exon15:c.G2355T:p.E785D;	0.999962169002896	0.998
18	28991412	G	A	18	31411449	y	y	splicing	DSG4(NM_001134453:exon14:c.2412+1G>A;NM_177986:exon15:c.2355+1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon15:c.2355+1G>A;ENST00000359747:exon14:c.2412+1G>A)	.	.	0.999971209564868	0.954
18	28991412	G	C	18	31411449	y	y	splicing	DSG4(NM_001134453:exon14:c.2412+1G>C;NM_177986:exon15:c.2355+1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon15:c.2355+1G>C;ENST00000359747:exon14:c.2412+1G>C)	.	.	0.999970205305079	0.954
18	28991412	G	T	18	31411449	y	y	splicing	DSG4(NM_001134453:exon14:c.2412+1G>T;NM_177986:exon15:c.2355+1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon15:c.2355+1G>T;ENST00000359747:exon14:c.2412+1G>T)	.	.	0.999971209564868	0.954
18	28991413	T	A	18	31411450	y	y	splicing	DSG4(NM_001134453:exon14:c.2412+2T>A;NM_177986:exon15:c.2355+2T>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon15:c.2355+2T>A;ENST00000359747:exon14:c.2412+2T>A)	.	.	0.999964896440643	0.962
18	28991413	T	C	18	31411450	y	y	splicing	DSG4(NM_001134453:exon14:c.2412+2T>C;NM_177986:exon15:c.2355+2T>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon15:c.2355+2T>C;ENST00000359747:exon14:c.2412+2T>C)	.	.	0.979246769799723	0.668
18	28991413	T	G	18	31411450	y	y	splicing	DSG4(NM_001134453:exon14:c.2412+2T>G;NM_177986:exon15:c.2355+2T>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon15:c.2355+2T>G;ENST00000359747:exon14:c.2412+2T>G)	.	.	0.999963671976247	0.946
18	28991414	A	C	18	31411451	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999643787290419	0.78
18	28991414	A	G	18	31411451	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.969950902411256	0.604
18	28991414	A	T	18	31411451	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999872957795834	0.778
18	28991415	A	C	18	31411452	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.148465483638642	0.372
18	28991415	A	G	18	31411452	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.943385355103145	0.682
18	28991415	A	T	18	31411452	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.234560640922421	0.436
18	28991416	T	A	18	31411453	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	8.91226456744262E-5	0.012
18	28991416	T	C	18	31411453	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	9.48273096341938E-5	0.01
18	28991416	T	G	18	31411453	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.15341734281805E-4	0.09
18	28991417	G	A	18	31411454	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.20381730731806E-5	0.042
18	28991417	G	C	18	31411454	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.15593547298855E-4	0.134
18	28991417	G	T	18	31411454	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.20175216104126E-5	0.0
18	28991418	C	A	18	31411455	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.7241992467767E-5	0.0
18	28991418	C	G	18	31411455	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.07227152509677E-4	0.102
18	28991418	C	T	18	31411455	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.64008572260902E-4	0.012
18	28991419	C	A	18	31411456	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.45667536247747E-5	0.004
18	28991419	C	G	18	31411456	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.41294572283424E-5	0.004
18	28991419	C	T	18	31411456	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.45667536247747E-5	0.004
18	28992779	T	A	18	31412816	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0332964248114201	0.348
18	28992779	T	C	18	31412816	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.06992172974676E-4	0.018
18	28992779	T	G	18	31412816	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0125744742151673	0.296
18	28992780	T	A	18	31412817	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.360238721692803	0.482
18	28992780	T	C	18	31412817	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.0010523757020584	0.076
18	28992780	T	G	18	31412817	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.148277995918987	0.49
18	28992781	T	A	18	31412818	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.371462842614406	0.576
18	28992781	T	C	18	31412818	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.01508164600088E-4	0.064
18	28992781	T	G	18	31412818	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.71346148763952	0.572
18	28992782	T	A	18	31412819	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.021687204012168	0.442
18	28992782	T	C	18	31412819	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.49212974184858E-4	0.156
18	28992782	T	G	18	31412819	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.100910001033067	0.498
18	28992783	A	C	18	31412820	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.60974220391836E-4	0.006
18	28992783	A	G	18	31412820	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.50860911720157E-4	0.008
18	28992783	A	T	18	31412820	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	2.31655782565238E-4	0.0
18	28992784	A	C	18	31412821	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.6385299961686E-4	0.006
18	28992784	A	G	18	31412821	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.998142488574107	0.972
18	28992784	A	T	18	31412821	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.35155939907833E-4	0.008
18	28992785	T	A	18	31412822	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.491121248823675	0.43
18	28992785	T	C	18	31412822	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	7.20886267259563E-4	0.042
18	28992785	T	G	18	31412822	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.999964363356411	0.968
18	28992786	T	A	18	31412823	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.964866167529613	0.57
18	28992786	T	C	18	31412823	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.00921464272883941	0.188
18	28992786	T	G	18	31412823	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.972134173426367	0.584
18	28992787	T	A	18	31412824	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.06085345053091E-4	0.038
18	28992787	T	C	18	31412824	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	4.45387976338759E-5	0.004
18	28992787	T	G	18	31412824	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	1.29427110285564E-4	0.0
18	28992788	T	A	18	31412825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.488951743026584	0.516
18	28992788	T	C	18	31412825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	3.65522582486055E-4	0.018
18	28992788	T	G	18	31412825	y	y	ncRNA_intronic	RP11-534N16.1	.	.	ncRNA_intronic	ENSG00000266729	.	.	0.994336110656115	0.686
18	28992789	A	C	18	31412826	y	y	splicing	DSG4(NM_001134453:exon15:c.2413-2A>C;NM_177986:exon16:c.2356-2A>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon16:c.2356-2A>C;ENST00000359747:exon15:c.2413-2A>C)	.	.	0.99994568797423	0.928
18	28992789	A	G	18	31412826	y	y	splicing	DSG4(NM_001134453:exon15:c.2413-2A>G;NM_177986:exon16:c.2356-2A>G)	.	.	splicing	ENSG00000175065(ENST00000308128:exon16:c.2356-2A>G;ENST00000359747:exon15:c.2413-2A>G)	.	.	0.99994568797423	0.928
18	28992789	A	T	18	31412826	y	y	splicing	DSG4(NM_001134453:exon15:c.2413-2A>T;NM_177986:exon16:c.2356-2A>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon16:c.2356-2A>T;ENST00000359747:exon15:c.2413-2A>T)	.	.	0.999978952611685	0.926
18	28992790	G	A	18	31412827	y	y	splicing	DSG4(NM_001134453:exon15:c.2413-1G>A;NM_177986:exon16:c.2356-1G>A)	.	.	splicing	ENSG00000175065(ENST00000308128:exon16:c.2356-1G>A;ENST00000359747:exon15:c.2413-1G>A)	.	.	0.999974090184857	0.936
18	28992790	G	C	18	31412827	y	y	splicing	DSG4(NM_001134453:exon15:c.2413-1G>C;NM_177986:exon16:c.2356-1G>C)	.	.	splicing	ENSG00000175065(ENST00000308128:exon16:c.2356-1G>C;ENST00000359747:exon15:c.2413-1G>C)	.	.	0.999974090184857	0.93
18	28992790	G	T	18	31412827	y	y	splicing	DSG4(NM_001134453:exon15:c.2413-1G>T;NM_177986:exon16:c.2356-1G>T)	.	.	splicing	ENSG00000175065(ENST00000308128:exon16:c.2356-1G>T;ENST00000359747:exon15:c.2413-1G>T)	.	.	0.999974090184857	0.936
18	28992791	A	C	18	31412828	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon16:c.A2356C:p.K786Q;DSG4:NM_001134453:exon15:c.A2413C:p.K805Q;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon15:c.A2413C:p.K805Q;ENSG00000175065:ENST00000308128:exon16:c.A2356C:p.K786Q;	0.570884858935002	0.568
18	28992791	A	G	18	31412828	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon16:c.A2356G:p.K786E;DSG4:NM_001134453:exon15:c.A2413G:p.K805E;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon15:c.A2413G:p.K805E;ENSG00000175065:ENST00000308128:exon16:c.A2356G:p.K786E;	0.523220732019928	0.6
18	28992791	A	T	18	31412828	y	y	exonic	DSG4	stopgain SNV	DSG4:NM_177986:exon16:c.A2356T:p.K786X;DSG4:NM_001134453:exon15:c.A2413T:p.K805X;	exonic	ENSG00000175065	stopgain SNV	ENSG00000175065:ENST00000359747:exon15:c.A2413T:p.K805X;ENSG00000175065:ENST00000308128:exon16:c.A2356T:p.K786X;	0.817609837899226	0.596
18	28992792	A	C	18	31412829	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon16:c.A2357C:p.K786T;DSG4:NM_001134453:exon15:c.A2414C:p.K805T;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon15:c.A2414C:p.K805T;ENSG00000175065:ENST00000308128:exon16:c.A2357C:p.K786T;	0.794582424218312	0.81
18	28992792	A	G	18	31412829	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon16:c.A2357G:p.K786R;DSG4:NM_001134453:exon15:c.A2414G:p.K805R;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon15:c.A2414G:p.K805R;ENSG00000175065:ENST00000308128:exon16:c.A2357G:p.K786R;	0.663160941815394	0.484
18	28992792	A	T	18	31412829	y	y	exonic	DSG4	nonsynonymous SNV	DSG4:NM_177986:exon16:c.A2357T:p.K786I;DSG4:NM_001134453:exon15:c.A2414T:p.K805I;	exonic	ENSG00000175065	nonsynonymous SNV	ENSG00000175065:ENST00000359747:exon15:c.A2414T:p.K805I;ENSG00000175065:ENST00000308128:exon16:c.A2357T:p.K786I;	0.765304449019085	0.708
18	29027886	G	A	18	31447923	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon1:c.G46A:p.V16M;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.G46A:p.V16M;	1.23279447236286E-5	0.006
18	29027886	G	C	18	31447923	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon1:c.G46C:p.V16L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.G46C:p.V16L;	3.46014220803645E-5	0.018
18	29027886	G	T	18	31447923	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon1:c.G46T:p.V16L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.G46T:p.V16L;	4.20071268298918E-4	0.026
18	29027887	T	A	18	31447924	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon1:c.T47A:p.V16E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.T47A:p.V16E;	0.0716645172339995	0.344
18	29027887	T	C	18	31447924	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon1:c.T47C:p.V16A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.T47C:p.V16A;	0.165876292380554	0.504
18	29027887	T	G	18	31447924	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon1:c.T47G:p.V16G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.T47G:p.V16G;	0.265081395095539	0.472
18	29027888	G	A	18	31447925	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon1:c.G48A:p.V16V;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.G48A:p.V16V;	0.957679234260886	0.826
18	29027888	G	C	18	31447925	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon1:c.G48C:p.V16V;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.G48C:p.V16V;	0.966564025401307	0.8
18	29027888	G	T	18	31447925	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon1:c.G48T:p.V16V;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon1:c.G48T:p.V16V;	0.929193279774817	0.834
18	29027889	G	A	18	31447926	y	y	splicing	DSG3(NM_001944:exon1:c.48+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon1:c.48+1G>A)	.	.	0.999990361384395	0.938
18	29027889	G	C	18	31447926	y	y	splicing	DSG3(NM_001944:exon1:c.48+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon1:c.48+1G>C)	.	.	0.999990361384395	0.938
18	29027889	G	T	18	31447926	y	y	splicing	DSG3(NM_001944:exon1:c.48+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon1:c.48+1G>T)	.	.	0.999990361384395	0.938
18	29027890	T	A	18	31447927	y	y	splicing	DSG3(NM_001944:exon1:c.48+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon1:c.48+2T>A)	.	.	0.999988247793601	0.93
18	29027890	T	C	18	31447927	y	y	splicing	DSG3(NM_001944:exon1:c.48+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon1:c.48+2T>C)	.	.	0.99231226973403	0.704
18	29027890	T	G	18	31447927	y	y	splicing	DSG3(NM_001944:exon1:c.48+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon1:c.48+2T>G)	.	.	0.999988247793601	0.93
18	29027891	A	C	18	31447928	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.995888277817295	0.9
18	29027891	A	G	18	31447928	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.336520028598852	0.354
18	29027891	A	T	18	31447928	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.994748520542939	0.794
18	29027892	A	C	18	31447929	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.977730096629757	0.68
18	29027892	A	G	18	31447929	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.988511858698599	0.698
18	29027892	A	T	18	31447929	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.987097242835171	0.71
18	29027893	G	A	18	31447930	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999761463648794	0.938
18	29027893	G	C	18	31447930	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999768460816579	0.884
18	29027893	G	T	18	31447930	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999592355047449	0.868
18	29027894	T	A	18	31447931	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.974144092455259	0.72
18	29027894	T	C	18	31447931	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.793162618107447	0.698
18	29027894	T	G	18	31447931	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.77992266172938	0.574
18	29027895	C	A	18	31447932	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.93287084549458E-4	0.008
18	29027895	C	G	18	31447932	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.49766544824233E-4	0.008
18	29027895	C	T	18	31447932	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.3235747268591E-4	0.012
18	29027896	C	A	18	31447933	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.90218087542939E-5	0.0
18	29027896	C	G	18	31447933	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.1458693897638E-5	0.0
18	29027896	C	T	18	31447933	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.77879983825388E-5	0.0
18	29036391	A	C	18	31456428	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.18338316821407E-4	0.048
18	29036391	A	G	18	31456428	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00155672152118004	0.086
18	29036391	A	T	18	31456428	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00207144576113353	0.034
18	29036392	A	C	18	31456429	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00934923562371082	0.078
18	29036392	A	G	18	31456429	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998201448836286	0.952
18	29036392	A	T	18	31456429	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0238885072010383	0.124
18	29036393	A	C	18	31456430	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.123064308496854	0.362
18	29036393	A	G	18	31456430	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999010472751139	0.922
18	29036393	A	T	18	31456430	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.217952510241265	0.282
18	29036394	T	A	18	31456431	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999953470452983	0.972
18	29036394	T	C	18	31456431	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0341835021827442	0.106
18	29036394	T	G	18	31456431	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999953733875047	0.978
18	29036395	G	A	18	31456432	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.93545865149626E-4	0.18
18	29036395	G	C	18	31456432	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.1812652633319E-5	0.0
18	29036395	G	T	18	31456432	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.1812652633319E-5	0.004
18	29036396	T	A	18	31456433	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00826502929268998	0.128
18	29036396	T	C	18	31456433	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.78228099281306E-5	0.02
18	29036396	T	G	18	31456433	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0224986813658636	0.206
18	29036397	C	A	18	31456434	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0217754046332342	0.27
18	29036397	C	G	18	31456434	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00444188160600787	0.14
18	29036397	C	T	18	31456434	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.34794446660684E-5	0.004
18	29036398	T	A	18	31456435	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998038759326073	0.882
18	29036398	T	C	18	31456435	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.27903446012842E-4	0.116
18	29036398	T	G	18	31456435	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.242972714600307	0.438
18	29036399	G	A	18	31456436	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.54845108667981E-5	0.0
18	29036399	G	C	18	31456436	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.32316264835767E-5	0.0
18	29036399	G	T	18	31456436	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.68312127749459E-5	0.0
18	29036400	C	A	18	31456437	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.985912009367063	0.866
18	29036400	C	G	18	31456437	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999630906723309	0.972
18	29036400	C	T	18	31456437	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0127065256329229	0.04
18	29036401	A	C	18	31456438	y	y	splicing	DSG3(NM_001944:exon2:c.49-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.49-2A>C)	.	.	0.999988247793601	0.908
18	29036401	A	G	18	31456438	y	y	splicing	DSG3(NM_001944:exon2:c.49-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.49-2A>G)	.	.	0.999988247793601	0.908
18	29036401	A	T	18	31456438	y	y	splicing	DSG3(NM_001944:exon2:c.49-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.49-2A>T)	.	.	0.999988247793601	0.908
18	29036402	G	A	18	31456439	y	y	splicing	DSG3(NM_001944:exon2:c.49-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.49-1G>A)	.	.	0.999985532734767	0.922
18	29036402	G	C	18	31456439	y	y	splicing	DSG3(NM_001944:exon2:c.49-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.49-1G>C)	.	.	0.999985532734767	0.922
18	29036402	G	T	18	31456439	y	y	splicing	DSG3(NM_001944:exon2:c.49-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.49-1G>T)	.	.	0.999985532734767	0.922
18	29036403	G	A	18	31456440	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.G49A:p.V17M;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.G49A:p.V17M;	0.599358461410762	0.378
18	29036403	G	C	18	31456440	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.G49C:p.V17L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.G49C:p.V17L;	0.972117819004237	0.78
18	29036403	G	T	18	31456440	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.G49T:p.V17L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.G49T:p.V17L;	0.995024254351939	0.958
18	29036404	T	A	18	31456441	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.T50A:p.V17E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.T50A:p.V17E;	9.57853114567105E-4	0.172
18	29036404	T	C	18	31456441	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.T50C:p.V17A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.T50C:p.V17A;	0.0103014136465169	0.168
18	29036404	T	G	18	31456441	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.T50G:p.V17G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.T50G:p.V17G;	0.00103886770817185	0.196
18	29036436	G	A	18	31456473	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.G82A:p.E28K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.G82A:p.E28K;	4.52671844856107E-5	0.004
18	29036436	G	C	18	31456473	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.G82C:p.E28Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.G82C:p.E28Q;	6.16234948548034E-5	0.0
18	29036436	G	T	18	31456473	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon2:c.G82T:p.E28X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon2:c.G82T:p.E28X;	0.00433232340677026	0.292
18	29036437	A	C	18	31456474	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.A83C:p.E28A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.A83C:p.E28A;	0.999683828602743	0.98
18	29036437	A	G	18	31456474	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.A83G:p.E28G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.A83G:p.E28G;	0.999944813052446	0.988
18	29036437	A	T	18	31456474	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.A83T:p.E28V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.A83T:p.E28V;	0.999888661817823	0.994
18	29036438	G	A	18	31456475	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon2:c.G84A:p.E28E;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.G84A:p.E28E;	0.999980254478702	1.0
18	29036438	G	C	18	31456475	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.G84C:p.E28D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.G84C:p.E28D;	0.9999981677847	1.0
18	29036438	G	T	18	31456475	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon2:c.G84T:p.E28D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon2:c.G84T:p.E28D;	0.99999006121748	1.0
18	29036439	G	A	18	31456476	y	y	splicing	DSG3(NM_001944:exon2:c.84+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.84+1G>A)	.	.	0.999985532734767	0.93
18	29036439	G	C	18	31456476	y	y	splicing	DSG3(NM_001944:exon2:c.84+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.84+1G>C)	.	.	0.999985532734767	0.928
18	29036439	G	T	18	31456476	y	y	splicing	DSG3(NM_001944:exon2:c.84+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.84+1G>T)	.	.	0.999985532734767	0.928
18	29036440	T	A	18	31456477	y	y	splicing	DSG3(NM_001944:exon2:c.84+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.84+2T>A)	.	.	0.999988247793601	0.92
18	29036440	T	C	18	31456477	y	y	splicing	DSG3(NM_001944:exon2:c.84+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.84+2T>C)	.	.	0.98918007292081	0.638
18	29036440	T	G	18	31456477	y	y	splicing	DSG3(NM_001944:exon2:c.84+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon2:c.84+2T>G)	.	.	0.999988247793601	0.918
18	29036441	A	C	18	31456478	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999953688555093	0.964
18	29036441	A	G	18	31456478	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.996584092296381	0.942
18	29036441	A	T	18	31456478	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999953688555093	0.974
18	29036442	A	C	18	31456479	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.984075655576813	0.73
18	29036442	A	G	18	31456479	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.994983654653668	0.948
18	29036442	A	T	18	31456479	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.995517690105993	0.894
18	29036443	A	C	18	31456480	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.125879764722011	0.226
18	29036443	A	G	18	31456480	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.48528176432772E-4	0.034
18	29036443	A	T	18	31456480	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0604762310570369	0.19
18	29036444	G	A	18	31456481	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.96764676328419E-4	0.028
18	29036444	G	C	18	31456481	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00116396638559514	0.072
18	29036444	G	T	18	31456481	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.19261854238596E-4	0.012
18	29036445	T	A	18	31456482	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0102675352081413	0.056
18	29036445	T	C	18	31456482	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00268413176578212	0.006
18	29036445	T	G	18	31456482	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00301463072369483	0.006
18	29036446	A	C	18	31456483	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00203291133277526	0.056
18	29036446	A	G	18	31456483	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00243483211121124	0.006
18	29036446	A	T	18	31456483	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00110470543430938	0.028
18	29036944	T	A	18	31456981	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.368274828287983	.
18	29036944	T	C	18	31456981	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00181273834611063	.
18	29036944	T	G	18	31456981	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.248027728174977	.
18	29036945	T	A	18	31456982	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.770876366619733	.
18	29036945	T	C	18	31456982	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.213244841186877	.
18	29036945	T	G	18	31456982	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.688078871663818	.
18	29036946	T	A	18	31456983	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.983471646439424	.
18	29036946	T	C	18	31456983	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0175585834580483	.
18	29036946	T	G	18	31456983	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.906035780149714	.
18	29036947	T	A	18	31456984	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0429232686445157	.
18	29036947	T	C	18	31456984	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.03900146993025E-4	.
18	29036947	T	G	18	31456984	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0350864929606717	.
18	29036948	T	A	18	31456985	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.223050082035188	.
18	29036948	T	C	18	31456985	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.24137999120625E-5	.
18	29036948	T	G	18	31456985	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00449031479469502	.
18	29036949	A	C	18	31456986	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.25715079132075E-5	.
18	29036949	A	G	18	31456986	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.30250289068447E-5	.
18	29036949	A	T	18	31456986	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.33684777350849E-5	.
18	29036950	C	A	18	31456987	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0233155310328876	.
18	29036950	C	G	18	31456987	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998133815717351	.
18	29036950	C	T	18	31456987	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.03539105434748E-4	.
18	29036951	A	C	18	31456988	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.05150043648043E-4	.
18	29036951	A	G	18	31456988	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.55750851788614E-5	.
18	29036951	A	T	18	31456988	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.55876742898696E-4	.
18	29036952	T	A	18	31456989	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.36875610916903E-5	.
18	29036952	T	C	18	31456989	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.37758606203161E-5	.
18	29036952	T	G	18	31456989	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.916743915372874	.
18	29036953	A	C	18	31456990	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.00797863489585E-4	.
18	29036953	A	G	18	31456990	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00159653023539783	.
18	29036953	A	T	18	31456990	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.32216603141657E-4	.
18	29036954	A	C	18	31456991	y	y	splicing	DSG3(NM_001944:exon3:c.85-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.85-2A>C)	.	.	0.99994335579835	.
18	29036954	A	G	18	31456991	y	y	splicing	DSG3(NM_001944:exon3:c.85-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.85-2A>G)	.	.	0.99994335579835	.
18	29036954	A	T	18	31456991	y	y	splicing	DSG3(NM_001944:exon3:c.85-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.85-2A>T)	.	.	0.999930675673579	.
18	29036955	G	A	18	31456992	y	y	splicing	DSG3(NM_001944:exon3:c.85-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.85-1G>A)	.	.	0.999821083826131	.
18	29036955	G	C	18	31456992	y	y	splicing	DSG3(NM_001944:exon3:c.85-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.85-1G>C)	.	.	0.999858733527738	.
18	29036955	G	T	18	31456992	y	y	splicing	DSG3(NM_001944:exon3:c.85-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.85-1G>T)	.	.	0.999858733527738	.
18	29036956	A	C	18	31456993	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.A85C:p.T29P;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.A85C:p.T29P;	0.00357074433091295	.
18	29036956	A	G	18	31456993	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.A85G:p.T29A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.A85G:p.T29A;	5.36668543831385E-4	.
18	29036956	A	T	18	31456993	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.A85T:p.T29S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.A85T:p.T29S;	0.00302416340934816	.
18	29036957	C	A	18	31456994	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.C86A:p.T29N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.C86A:p.T29N;	0.00122028742414043	.
18	29036957	C	G	18	31456994	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.C86G:p.T29S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.C86G:p.T29S;	1.18453620586808E-4	.
18	29036957	C	T	18	31456994	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.C86T:p.T29I;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.C86T:p.T29I;	3.29425639241619E-4	.
18	29037085	A	C	18	31457122	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.A214C:p.K72Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.A214C:p.K72Q;	1.89547423225348E-4	0.044
18	29037085	A	G	18	31457122	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.A214G:p.K72E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.A214G:p.K72E;	7.50417143191773E-5	0.068
18	29037085	A	T	18	31457122	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon3:c.A214T:p.K72X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon3:c.A214T:p.K72X;	0.0132811533867881	0.302
18	29037086	A	C	18	31457123	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.A215C:p.K72T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.A215C:p.K72T;	0.148249291344425	0.498
18	29037086	A	G	18	31457123	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.A215G:p.K72R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.A215G:p.K72R;	0.0484831834823326	0.182
18	29037086	A	T	18	31457123	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.A215T:p.K72M;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.A215T:p.K72M;	0.364914609067634	0.484
18	29037087	G	A	18	31457124	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon3:c.G216A:p.K72K;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.G216A:p.K72K;	0.0681850307321658	0.282
18	29037087	G	C	18	31457124	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.G216C:p.K72N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.G216C:p.K72N;	0.876358777150157	0.528
18	29037087	G	T	18	31457124	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon3:c.G216T:p.K72N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon3:c.G216T:p.K72N;	0.833770607011104	0.394
18	29037088	G	A	18	31457125	y	y	splicing	DSG3(NM_001944:exon3:c.216+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.216+1G>A)	.	.	0.999985532734767	0.938
18	29037088	G	C	18	31457125	y	y	splicing	DSG3(NM_001944:exon3:c.216+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.216+1G>C)	.	.	0.999985532734767	0.936
18	29037088	G	T	18	31457125	y	y	splicing	DSG3(NM_001944:exon3:c.216+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.216+1G>T)	.	.	0.999985532734767	0.938
18	29037089	T	A	18	31457126	y	y	splicing	DSG3(NM_001944:exon3:c.216+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.216+2T>A)	.	.	0.999988247793601	0.926
18	29037089	T	C	18	31457126	y	y	splicing	DSG3(NM_001944:exon3:c.216+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.216+2T>C)	.	.	0.988163425542712	0.61
18	29037089	T	G	18	31457126	y	y	splicing	DSG3(NM_001944:exon3:c.216+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon3:c.216+2T>G)	.	.	0.999988247793601	0.926
18	29037090	A	C	18	31457127	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.467265554404405	0.494
18	29037090	A	G	18	31457127	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.12561158830655E-4	0.046
18	29037090	A	T	18	31457127	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.16613205023275	0.432
18	29037091	A	C	18	31457128	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.109013501959958	0.446
18	29037091	A	G	18	31457128	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.335709390922205	0.436
18	29037091	A	T	18	31457128	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.511123017030705	0.472
18	29037092	G	A	18	31457129	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.228388740995419	0.586
18	29037092	G	C	18	31457129	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.339909088302065	0.438
18	29037092	G	T	18	31457129	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.247526684585673	0.472
18	29037093	T	A	18	31457130	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.03426390225448E-4	0.024
18	29037093	T	C	18	31457130	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.01296182031224E-4	0.008
18	29037093	T	G	18	31457130	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.01496682602358E-4	0.012
18	29037094	T	A	18	31457131	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.79263055397885E-5	0.014
18	29037094	T	C	18	31457131	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.79263055397885E-5	0.008
18	29037094	T	G	18	31457131	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.79263055397885E-5	0.01
18	29037095	A	C	18	31457132	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.15941453541388E-5	0.0
18	29037095	A	G	18	31457132	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.52297880296295E-5	0.0
18	29037095	A	T	18	31457132	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.15941453541388E-5	0.0
18	29038396	T	A	18	31458433	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0236981388419994	0.5
18	29038396	T	C	18	31458433	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00135432302710603	0.086
18	29038396	T	G	18	31458433	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00473298236529499	0.428
18	29038397	T	A	18	31458434	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.99958646218865	0.936
18	29038397	T	C	18	31458434	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.70285321751629E-4	0.034
18	29038397	T	G	18	31458434	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.331665600237306	0.472
18	29038398	G	A	18	31458435	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998484316519766	0.956
18	29038398	G	C	18	31458435	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.27448245290825E-5	0.002
18	29038398	G	T	18	31458435	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.48298787377117E-5	0.002
18	29038399	G	A	18	31458436	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.99163301800451	0.964
18	29038399	G	C	18	31458436	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.7968848588147E-5	0.006
18	29038399	G	T	18	31458436	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.84598736482645E-5	0.014
18	29038400	G	A	18	31458437	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999000946933364	0.988
18	29038400	G	C	18	31458437	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.52224456553663E-5	0.004
18	29038400	G	T	18	31458437	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.52224456553663E-5	0.018
18	29038401	G	A	18	31458438	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.53712999110345E-4	0.014
18	29038401	G	C	18	31458438	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.00684534904205E-5	0.008
18	29038401	G	T	18	31458438	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.00684534904205E-5	0.016
18	29038402	C	A	18	31458439	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0535668273366981	0.374
18	29038402	C	G	18	31458439	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0011353514948325	0.314
18	29038402	C	T	18	31458439	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.02187507650876E-5	0.034
18	29038403	T	A	18	31458440	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999809520483317	0.956
18	29038403	T	C	18	31458440	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.86180312290746E-4	0.138
18	29038403	T	G	18	31458440	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.923589465339699	0.6
18	29038404	G	A	18	31458441	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.29178693758946E-4	0.032
18	29038404	G	C	18	31458441	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.73789185658401E-5	0.008
18	29038404	G	T	18	31458441	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.95284489310246E-5	0.012
18	29038405	T	A	18	31458442	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.713711998506351	0.494
18	29038405	T	C	18	31458442	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.77703010208475E-5	0.032
18	29038405	T	G	18	31458442	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.955338861773251	0.664
18	29038406	A	C	18	31458443	y	y	splicing	DSG3(NM_001944:exon4:c.217-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.217-2A>C)	.	.	0.999979394981131	0.908
18	29038406	A	G	18	31458443	y	y	splicing	DSG3(NM_001944:exon4:c.217-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.217-2A>G)	.	.	0.999979394981131	0.908
18	29038406	A	T	18	31458443	y	y	splicing	DSG3(NM_001944:exon4:c.217-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.217-2A>T)	.	.	0.999979394981131	0.91
18	29038407	G	A	18	31458444	y	y	splicing	DSG3(NM_001944:exon4:c.217-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.217-1G>A)	.	.	0.999982627682474	0.91
18	29038407	G	C	18	31458444	y	y	splicing	DSG3(NM_001944:exon4:c.217-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.217-1G>C)	.	.	0.999982627682474	0.91
18	29038407	G	T	18	31458444	y	y	splicing	DSG3(NM_001944:exon4:c.217-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.217-1G>T)	.	.	0.999982627682474	0.91
18	29038408	A	C	18	31458445	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.A217C:p.I73L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.A217C:p.I73L;	0.894846225571657	0.58
18	29038408	A	G	18	31458445	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.A217G:p.I73V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.A217G:p.I73V;	0.758026269353728	0.61
18	29038408	A	T	18	31458445	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.A217T:p.I73F;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.A217T:p.I73F;	0.900745688120062	0.534
18	29038409	T	A	18	31458446	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.T218A:p.I73N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.T218A:p.I73N;	0.850566042096328	0.498
18	29038409	T	C	18	31458446	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.T218C:p.I73T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.T218C:p.I73T;	0.79123157058768	0.508
18	29038409	T	G	18	31458446	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.T218G:p.I73S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.T218G:p.I73S;	0.788471251386132	0.522
18	29038561	C	A	18	31458598	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.C370A:p.L124M;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.C370A:p.L124M;	0.962216012415727	0.772
18	29038561	C	G	18	31458598	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.C370G:p.L124V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.C370G:p.L124V;	0.871318588401382	0.562
18	29038561	C	T	18	31458598	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon4:c.C370T:p.L124L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.C370T:p.L124L;	0.772395876275489	0.336
18	29038562	T	A	18	31458599	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.T371A:p.L124Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.T371A:p.L124Q;	0.00162245432706892	0.13
18	29038562	T	C	18	31458599	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.T371C:p.L124P;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.T371C:p.L124P;	0.118972040155197	0.258
18	29038562	T	G	18	31458599	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon4:c.T371G:p.L124R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.T371G:p.L124R;	0.0568841810833207	0.272
18	29038563	G	A	18	31458600	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon4:c.G372A:p.L124L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.G372A:p.L124L;	0.530879540130484	0.454
18	29038563	G	C	18	31458600	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon4:c.G372C:p.L124L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.G372C:p.L124L;	0.791952478722468	0.666
18	29038563	G	T	18	31458600	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon4:c.G372T:p.L124L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon4:c.G372T:p.L124L;	0.719220438611995	0.65
18	29038564	G	A	18	31458601	y	y	splicing	DSG3(NM_001944:exon4:c.372+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.372+1G>A)	.	.	0.999990361384395	0.938
18	29038564	G	C	18	31458601	y	y	splicing	DSG3(NM_001944:exon4:c.372+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.372+1G>C)	.	.	0.999990361384395	0.938
18	29038564	G	T	18	31458601	y	y	splicing	DSG3(NM_001944:exon4:c.372+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.372+1G>T)	.	.	0.999990361384395	0.938
18	29038565	T	A	18	31458602	y	y	splicing	DSG3(NM_001944:exon4:c.372+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.372+2T>A)	.	.	0.999988247793601	0.928
18	29038565	T	C	18	31458602	y	y	splicing	DSG3(NM_001944:exon4:c.372+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.372+2T>C)	.	.	0.994063255842726	0.694
18	29038565	T	G	18	31458602	y	y	splicing	DSG3(NM_001944:exon4:c.372+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon4:c.372+2T>G)	.	.	0.999988247793601	0.928
18	29038566	A	C	18	31458603	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.947810098054206	0.64
18	29038566	A	G	18	31458603	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00610329519565319	0.106
18	29038566	A	T	18	31458603	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.915924457904235	0.608
18	29038567	A	C	18	31458604	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.139748255410267	0.26
18	29038567	A	G	18	31458604	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.541164863284686	0.364
18	29038567	A	T	18	31458604	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.339278481048983	0.33
18	29038568	G	A	18	31458605	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999768917056628	0.908
18	29038568	G	C	18	31458605	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998458825949561	0.822
18	29038568	G	T	18	31458605	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999346149468025	0.908
18	29038569	T	A	18	31458606	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00148770997779449	0.07
18	29038569	T	C	18	31458606	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00788193942944995	0.038
18	29038569	T	G	18	31458606	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.71639077223589E-4	0.038
18	29038570	T	A	18	31458607	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.7357792130175E-4	0.002
18	29038570	T	C	18	31458607	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.10778896013591E-5	0.0
18	29038570	T	G	18	31458607	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.46844991217429E-5	0.0
18	29038571	T	A	18	31458608	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.36510852330292E-4	0.092
18	29038571	T	C	18	31458608	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.29394605988487E-4	0.03
18	29038571	T	G	18	31458608	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.92439206235013E-5	0.018
18	29038984	C	A	18	31459021	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.44955619092308E-5	0.002
18	29038984	C	G	18	31459021	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.47814354088898E-5	0.018
18	29038984	C	T	18	31459021	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.91599521872062E-5	0.006
18	29038985	T	A	18	31459022	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0168392853527743	0.256
18	29038985	T	C	18	31459022	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.98773007438845E-4	0.11
18	29038985	T	G	18	31459022	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00519016882005384	0.188
18	29038986	C	A	18	31459023	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00230243430104167	0.08
18	29038986	C	G	18	31459023	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00147455691398426	0.028
18	29038986	C	T	18	31459023	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.2696220463715E-5	0.002
18	29038987	T	A	18	31459024	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999441525271011	0.976
18	29038987	T	C	18	31459024	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.13900851146096E-4	0.072
18	29038987	T	G	18	31459024	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00660305082202391	0.098
18	29038988	G	A	18	31459025	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.42851073725323E-4	0.004
18	29038988	G	C	18	31459025	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.50724516025941E-5	0.0
18	29038988	G	T	18	31459025	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.27278800016004E-5	0.0
18	29038989	T	A	18	31459026	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00303001245769888	0.062
18	29038989	T	C	18	31459026	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.5742284168206E-5	0.002
18	29038989	T	G	18	31459026	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00300267142661468	0.056
18	29038990	T	A	18	31459027	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.104845704145762	0.236
18	29038990	T	C	18	31459027	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00124422791025401	0.026
18	29038990	T	G	18	31459027	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0644234354226321	0.286
18	29038991	C	A	18	31459028	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.71701842613274E-4	0.03
18	29038991	C	G	18	31459028	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.71701842613274E-4	0.08
18	29038991	C	T	18	31459028	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.35031423102131E-5	0.0
18	29038992	C	A	18	31459029	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.30910924117531E-5	0.022
18	29038992	C	G	18	31459029	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.31937686465152E-4	0.02
18	29038992	C	T	18	31459029	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.70218773574523E-4	0.026
18	29038993	T	A	18	31459030	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00547222444113672	0.144
18	29038993	T	C	18	31459030	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.05913339695895E-4	0.004
18	29038993	T	G	18	31459030	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.971835326942896	0.712
18	29038994	A	C	18	31459031	y	y	splicing	DSG3(NM_001944:exon5:c.373-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.373-2A>C)	.	.	0.999962958601995	0.834
18	29038994	A	G	18	31459031	y	y	splicing	DSG3(NM_001944:exon5:c.373-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.373-2A>G)	.	.	0.999962958601995	0.83
18	29038994	A	T	18	31459031	y	y	splicing	DSG3(NM_001944:exon5:c.373-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.373-2A>T)	.	.	0.999969255906173	0.844
18	29038995	G	A	18	31459032	y	y	splicing	DSG3(NM_001944:exon5:c.373-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.373-1G>A)	.	.	0.999965722254998	0.864
18	29038995	G	C	18	31459032	y	y	splicing	DSG3(NM_001944:exon5:c.373-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.373-1G>C)	.	.	0.999962153403958	0.878
18	29038995	G	T	18	31459032	y	y	splicing	DSG3(NM_001944:exon5:c.373-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.373-1G>T)	.	.	0.999965722254998	0.884
18	29038996	A	C	18	31459033	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.A373C:p.I125L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A373C:p.I125L;	0.0042496904923508	0.12
18	29038996	A	G	18	31459033	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.A373G:p.I125V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A373G:p.I125V;	0.12862235224195	0.378
18	29038996	A	T	18	31459033	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.A373T:p.I125F;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A373T:p.I125F;	0.366286137447085	0.48
18	29038997	T	A	18	31459034	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.T374A:p.I125N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.T374A:p.I125N;	0.462825111160594	0.414
18	29038997	T	C	18	31459034	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.T374C:p.I125T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.T374C:p.I125T;	0.207388846962998	0.434
18	29038997	T	G	18	31459034	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.T374G:p.I125S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.T374G:p.I125S;	0.465234016621931	0.402
18	29039138	C	A	18	31459175	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon5:c.C515A:p.S172X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon5:c.C515A:p.S172X;	0.00791392274700484	0.268
18	29039138	C	G	18	31459175	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon5:c.C515G:p.S172X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon5:c.C515G:p.S172X;	0.0062733926343466	0.186
18	29039138	C	T	18	31459175	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.C515T:p.S172L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.C515T:p.S172L;	0.148030502098732	0.37
18	29039139	A	C	18	31459176	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon5:c.A516C:p.S172S;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A516C:p.S172S;	0.06531442005303	0.504
18	29039139	A	G	18	31459176	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon5:c.A516G:p.S172S;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A516G:p.S172S;	0.0363063902616366	0.442
18	29039139	A	T	18	31459176	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon5:c.A516T:p.S172S;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A516T:p.S172S;	0.0701329315401711	0.492
18	29039140	A	C	18	31459177	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.A517C:p.N173H;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A517C:p.N173H;	0.00673845202788922	0.078
18	29039140	A	G	18	31459177	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.A517G:p.N173D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A517G:p.N173D;	0.0102180252013519	0.124
18	29039140	A	T	18	31459177	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon5:c.A517T:p.N173Y;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon5:c.A517T:p.N173Y;	0.138626013988097	0.482
18	29039141	G	A	18	31459178	y	y	splicing	DSG3(NM_001944:exon5:c.517+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.517+1G>A)	.	.	0.999989553331972	0.742
18	29039141	G	C	18	31459178	y	y	splicing	DSG3(NM_001944:exon5:c.517+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.517+1G>C)	.	.	0.999991745896332	0.758
18	29039141	G	T	18	31459178	y	y	splicing	DSG3(NM_001944:exon5:c.517+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.517+1G>T)	.	.	0.999989553331972	0.75
18	29039142	T	A	18	31459179	y	y	splicing	DSG3(NM_001944:exon5:c.517+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.517+2T>A)	.	.	0.999972155025474	0.868
18	29039142	T	C	18	31459179	y	y	splicing	DSG3(NM_001944:exon5:c.517+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.517+2T>C)	.	.	0.946087814407195	0.612
18	29039142	T	G	18	31459179	y	y	splicing	DSG3(NM_001944:exon5:c.517+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon5:c.517+2T>G)	.	.	0.999969255906173	0.844
18	29039143	A	C	18	31459180	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.997356196676541	0.814
18	29039143	A	G	18	31459180	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.060666185758663	0.234
18	29039143	A	T	18	31459180	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.973536674535869	0.694
18	29039144	A	C	18	31459181	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.285562029322574	0.368
18	29039144	A	G	18	31459181	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.806298075265303	0.52
18	29039144	A	T	18	31459181	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.187647580925984	0.432
18	29039145	G	A	18	31459182	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.994921118923396	0.78
18	29039145	G	C	18	31459182	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.993574608445117	0.696
18	29039145	G	T	18	31459182	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.997545170741261	0.754
18	29039146	T	A	18	31459183	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.32446330066985	0.372
18	29039146	T	C	18	31459183	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.376221351400978	0.428
18	29039146	T	G	18	31459183	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0675178505619039	0.344
18	29039147	C	A	18	31459184	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.64074691411758E-5	0.0
18	29039147	C	G	18	31459184	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.11303728117657E-5	0.0
18	29039147	C	T	18	31459184	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.64074691411758E-5	0.0
18	29039148	T	A	18	31459185	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.05669462755869E-4	0.052
18	29039148	T	C	18	31459185	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.78328349078946E-5	0.08
18	29039148	T	G	18	31459185	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.27408565520268E-5	0.062
18	29039796	C	A	18	31459833	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0740459856744447	0.25
18	29039796	C	G	18	31459833	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0412659512617578	0.262
18	29039796	C	T	18	31459833	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.47563249537348E-4	0.048
18	29039797	T	A	18	31459834	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998287740693596	0.932
18	29039797	T	C	18	31459834	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.50001544986632E-4	0.088
18	29039797	T	G	18	31459834	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0731780361808588	0.376
18	29039798	G	A	18	31459835	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00104393906468007	0.056
18	29039798	G	C	18	31459835	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.46909240809615E-4	0.002
18	29039798	G	T	18	31459835	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.59920554535151E-4	0.0
18	29039799	T	A	18	31459836	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0317823079047088	0.26
18	29039799	T	C	18	31459836	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00136168314535662	0.036
18	29039799	T	G	18	31459836	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.080908083852622	0.332
18	29039800	A	C	18	31459837	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.77983315072629E-5	0.012
18	29039800	A	G	18	31459837	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.43761396981745E-5	0.002
18	29039800	A	T	18	31459837	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.57425113233739E-5	0.004
18	29039801	T	A	18	31459838	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.315621656115708	0.318
18	29039801	T	C	18	31459838	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.55293656250326E-4	0.006
18	29039801	T	G	18	31459838	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999920138612503	0.99
18	29039802	T	A	18	31459839	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00504051193414196	0.142
18	29039802	T	C	18	31459839	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.29998412831376E-5	0.02
18	29039802	T	G	18	31459839	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0422839602425386	0.208
18	29039803	C	A	18	31459840	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.2016594912188E-5	0.042
18	29039803	C	G	18	31459840	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.54643309768787E-4	0.068
18	29039803	C	T	18	31459840	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.95066142084691E-5	0.0
18	29039804	C	A	18	31459841	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.68640208110425E-4	0.032
18	29039804	C	G	18	31459841	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.28057728260069E-5	0.006
18	29039804	C	T	18	31459841	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.54362048107101E-5	0.01
18	29039805	T	A	18	31459842	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0883640288648335	0.38
18	29039805	T	C	18	31459842	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.97151112024735E-5	0.028
18	29039805	T	G	18	31459842	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.972305810780598	0.586
18	29039806	A	C	18	31459843	y	y	splicing	DSG3(NM_001944:exon6:c.518-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.518-2A>C)	.	.	0.999972413313263	0.956
18	29039806	A	G	18	31459843	y	y	splicing	DSG3(NM_001944:exon6:c.518-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.518-2A>G)	.	.	0.999972413313263	0.956
18	29039806	A	T	18	31459843	y	y	splicing	DSG3(NM_001944:exon6:c.518-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.518-2A>T)	.	.	0.999957711392063	0.958
18	29039807	G	A	18	31459844	y	y	splicing	DSG3(NM_001944:exon6:c.518-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.518-1G>A)	.	.	0.999960677121282	0.952
18	29039807	G	C	18	31459844	y	y	splicing	DSG3(NM_001944:exon6:c.518-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.518-1G>C)	.	.	0.999960677121282	0.93
18	29039807	G	T	18	31459844	y	y	splicing	DSG3(NM_001944:exon6:c.518-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.518-1G>T)	.	.	0.999960677121282	0.952
18	29039808	A	C	18	31459845	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.A518C:p.N173T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.A518C:p.N173T;	0.594284444646585	0.546
18	29039808	A	G	18	31459845	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.A518G:p.N173S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.A518G:p.N173S;	0.00569682034024673	0.178
18	29039808	A	T	18	31459845	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.A518T:p.N173I;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.A518T:p.N173I;	0.760192750014287	0.484
18	29039809	C	A	18	31459846	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.C519A:p.N173K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.C519A:p.N173K;	6.69376642438623E-4	0.052
18	29039809	C	G	18	31459846	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.C519G:p.N173K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.C519G:p.N173K;	1.10327474946298E-4	0.01
18	29039809	C	T	18	31459846	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon6:c.C519T:p.N173N;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.C519T:p.N173N;	1.4937827676983E-4	0.004
18	29039972	G	A	18	31460009	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.G682A:p.E228K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.G682A:p.E228K;	0.465836105651777	0.606
18	29039972	G	C	18	31460009	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.G682C:p.E228Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.G682C:p.E228Q;	0.544437379341496	0.628
18	29039972	G	T	18	31460009	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon6:c.G682T:p.E228X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon6:c.G682T:p.E228X;	0.663818089470199	0.586
18	29039973	A	C	18	31460010	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.A683C:p.E228A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.A683C:p.E228A;	0.999747123397161	0.976
18	29039973	A	G	18	31460010	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.A683G:p.E228G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.A683G:p.E228G;	0.9999775270537	0.99
18	29039973	A	T	18	31460010	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.A683T:p.E228V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.A683T:p.E228V;	0.999972447475828	0.994
18	29039974	G	A	18	31460011	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon6:c.G684A:p.E228E;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.G684A:p.E228E;	0.999987541754229	1.0
18	29039974	G	C	18	31460011	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.G684C:p.E228D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.G684C:p.E228D;	0.999996178635971	1.0
18	29039974	G	T	18	31460011	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon6:c.G684T:p.E228D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon6:c.G684T:p.E228D;	0.999992617488894	1.0
18	29039975	G	A	18	31460012	y	y	splicing	DSG3(NM_001944:exon6:c.684+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.684+1G>A)	.	.	0.999984967332678	0.938
18	29039975	G	C	18	31460012	y	y	splicing	DSG3(NM_001944:exon6:c.684+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.684+1G>C)	.	.	0.999984967332678	0.938
18	29039975	G	T	18	31460012	y	y	splicing	DSG3(NM_001944:exon6:c.684+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.684+1G>T)	.	.	0.999984967332678	0.938
18	29039976	T	A	18	31460013	y	y	splicing	DSG3(NM_001944:exon6:c.684+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.684+2T>A)	.	.	0.999986741007567	0.936
18	29039976	T	C	18	31460013	y	y	splicing	DSG3(NM_001944:exon6:c.684+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.684+2T>C)	.	.	0.983090721235032	0.62
18	29039976	T	G	18	31460013	y	y	splicing	DSG3(NM_001944:exon6:c.684+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon6:c.684+2T>G)	.	.	0.999986741007567	0.936
18	29039977	A	C	18	31460014	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999940938661602	0.97
18	29039977	A	G	18	31460014	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999046578572821	0.882
18	29039977	A	T	18	31460014	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999959335344478	0.964
18	29039978	C	A	18	31460015	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.72701169517227E-5	0.024
18	29039978	C	G	18	31460015	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.51145309484105E-4	0.066
18	29039978	C	T	18	31460015	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.15668339267021E-4	0.104
18	29039979	A	C	18	31460016	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.03337758834005E-4	0.03
18	29039979	A	G	18	31460016	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00216692415082292	0.102
18	29039979	A	T	18	31460016	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00105591786104691	0.094
18	29039980	G	A	18	31460017	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.87181479488447E-4	0.036
18	29039980	G	C	18	31460017	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.48419288458391E-4	0.074
18	29039980	G	T	18	31460017	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.29202879638355E-5	0.044
18	29039981	C	A	18	31460018	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.1972958931342E-4	0.004
18	29039981	C	G	18	31460018	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.34018852903616E-4	0.004
18	29039981	C	T	18	31460018	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.27743000393769E-4	0.006
18	29039982	A	C	18	31460019	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00228801310886347	0.0
18	29039982	A	G	18	31460019	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00228801310886347	0.002
18	29039982	A	T	18	31460019	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00281167670808178	0.062
18	29040784	A	C	18	31460821	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.95496760346706E-5	0.008
18	29040784	A	G	18	31460821	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.63354716910922E-6	0.01
18	29040784	A	T	18	31460821	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.16072455284474E-5	0.02
18	29040785	T	A	18	31460822	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0765584249800242	0.368
18	29040785	T	C	18	31460822	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.64734680828788E-4	0.16
18	29040785	T	G	18	31460822	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.912059611289555	0.546
18	29040786	C	A	18	31460823	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0103459202658496	0.232
18	29040786	C	G	18	31460823	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0400427963127253	0.156
18	29040786	C	T	18	31460823	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.90479626349894E-5	0.042
18	29040787	C	A	18	31460824	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0154455663125279	0.246
18	29040787	C	G	18	31460824	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0200878579369474	0.19
18	29040787	C	T	18	31460824	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.29952450415947E-5	0.086
18	29040788	A	C	18	31460825	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.41394928823114E-5	0.018
18	29040788	A	G	18	31460825	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.15401533874995E-5	0.054
18	29040788	A	T	18	31460825	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.41394928823114E-5	0.05
18	29040789	A	C	18	31460826	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.65047354028333E-5	0.0
18	29040789	A	G	18	31460826	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.767037438254152	0.556
18	29040789	A	T	18	31460826	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.40347652697844E-5	0.018
18	29040790	A	C	18	31460827	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.58106955181735E-5	0.076
18	29040790	A	G	18	31460827	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.981233998422482	0.918
18	29040790	A	T	18	31460827	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.5274980585788E-5	0.01
18	29040791	A	C	18	31460828	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.49870530757164E-5	0.0
18	29040791	A	G	18	31460828	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.947296431394574	0.668
18	29040791	A	T	18	31460828	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.50700597626852E-5	0.022
18	29040792	T	A	18	31460829	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.03211600164974E-5	0.004
18	29040792	T	C	18	31460829	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.00987276344459E-6	0.002
18	29040792	T	G	18	31460829	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.804558077954654	0.948
18	29040793	T	A	18	31460830	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.816145789439239	0.498
18	29040793	T	C	18	31460830	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.85616909195091E-5	0.034
18	29040793	T	G	18	31460830	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.958332866278794	0.634
18	29040794	A	C	18	31460831	y	y	splicing	DSG3(NM_001944:exon7:c.685-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.685-2A>C)	.	.	0.999802041258096	0.834
18	29040794	A	G	18	31460831	y	y	splicing	DSG3(NM_001944:exon7:c.685-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.685-2A>G)	.	.	0.999802041258096	0.838
18	29040794	A	T	18	31460831	y	y	splicing	DSG3(NM_001944:exon7:c.685-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.685-2A>T)	.	.	0.999891915057543	0.846
18	29040795	G	A	18	31460832	y	y	splicing	DSG3(NM_001944:exon7:c.685-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.685-1G>A)	.	.	0.999726344239127	0.89
18	29040795	G	C	18	31460832	y	y	splicing	DSG3(NM_001944:exon7:c.685-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.685-1G>C)	.	.	0.999853885510064	0.886
18	29040795	G	T	18	31460832	y	y	splicing	DSG3(NM_001944:exon7:c.685-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.685-1G>T)	.	.	0.999853885510064	0.886
18	29040796	C	A	18	31460833	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.C685A:p.Q229K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.C685A:p.Q229K;	7.31068783851618E-4	0.086
18	29040796	C	G	18	31460833	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.C685G:p.Q229E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.C685G:p.Q229E;	5.9957019385031E-4	0.14
18	29040796	C	T	18	31460833	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon7:c.C685T:p.Q229X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon7:c.C685T:p.Q229X;	0.994577199042791	0.864
18	29040797	A	C	18	31460834	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.A686C:p.Q229P;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.A686C:p.Q229P;	0.0302285361372283	0.32
18	29040797	A	G	18	31460834	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.A686G:p.Q229R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.A686G:p.Q229R;	0.192342583522728	0.484
18	29040797	A	T	18	31460834	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.A686T:p.Q229L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.A686T:p.Q229L;	0.25706007722117	0.552
18	29040922	C	A	18	31460959	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.C811A:p.Q271K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.C811A:p.Q271K;	0.00144543809999376	0.108
18	29040922	C	G	18	31460959	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.C811G:p.Q271E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.C811G:p.Q271E;	0.00307884187890509	0.304
18	29040922	C	T	18	31460959	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon7:c.C811T:p.Q271X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon7:c.C811T:p.Q271X;	0.999802946842897	0.976
18	29040923	A	C	18	31460960	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.A812C:p.Q271P;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.A812C:p.Q271P;	0.998897596320485	0.968
18	29040923	A	G	18	31460960	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.A812G:p.Q271R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.A812G:p.Q271R;	0.990084298819036	0.884
18	29040923	A	T	18	31460960	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.A812T:p.Q271L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.A812T:p.Q271L;	0.994686586663731	0.904
18	29040924	G	A	18	31460961	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon7:c.G813A:p.Q271Q;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.G813A:p.Q271Q;	0.999989008094774	0.982
18	29040924	G	C	18	31460961	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.G813C:p.Q271H;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.G813C:p.Q271H;	0.999993875832468	0.998
18	29040924	G	T	18	31460961	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon7:c.G813T:p.Q271H;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon7:c.G813T:p.Q271H;	0.999978504803023	0.998
18	29040925	G	A	18	31460962	y	y	splicing	DSG3(NM_001944:exon7:c.813+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.813+1G>A)	.	.	0.99996748057446	0.904
18	29040925	G	C	18	31460962	y	y	splicing	DSG3(NM_001944:exon7:c.813+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.813+1G>C)	.	.	0.999969242257053	0.892
18	29040925	G	T	18	31460962	y	y	splicing	DSG3(NM_001944:exon7:c.813+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.813+1G>T)	.	.	0.99996748057446	0.904
18	29040926	T	A	18	31460963	y	y	splicing	DSG3(NM_001944:exon7:c.813+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.813+2T>A)	.	.	0.999971317418422	0.888
18	29040926	T	C	18	31460963	y	y	splicing	DSG3(NM_001944:exon7:c.813+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.813+2T>C)	.	.	0.974575177318545	0.572
18	29040926	T	G	18	31460963	y	y	splicing	DSG3(NM_001944:exon7:c.813+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon7:c.813+2T>G)	.	.	0.999972155025474	0.85
18	29040927	A	C	18	31460964	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999940130405905	0.842
18	29040927	A	G	18	31460964	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.919955275616949	0.676
18	29040927	A	T	18	31460964	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999940130405905	0.812
18	29040928	C	A	18	31460965	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.74200599683511E-5	0.1
18	29040928	C	G	18	31460965	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.24461678492414E-5	0.02
18	29040928	C	T	18	31460965	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.59629416977715E-5	0.028
18	29040929	A	C	18	31460966	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.17669934960209E-4	0.064
18	29040929	A	G	18	31460966	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.32505128982852E-4	0.028
18	29040929	A	T	18	31460966	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.87928719555964E-5	0.004
18	29040930	C	A	18	31460967	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.42910658304751E-5	0.0
18	29040930	C	G	18	31460967	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.56975317886916E-5	0.002
18	29040930	C	T	18	31460967	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.31583490056235E-5	0.0
18	29040931	C	A	18	31460968	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00255391889031584	0.062
18	29040931	C	G	18	31460968	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00255391889031584	0.062
18	29040931	C	T	18	31460968	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00269922103813189	0.066
18	29040932	C	A	18	31460969	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.43427100188647E-5	0.002
18	29040932	C	G	18	31460969	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.83151614218967E-5	0.002
18	29040932	C	T	18	31460969	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.57530626779289E-5	0.002
18	29041178	T	A	18	31461215	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0773273008999843	0.432
18	29041178	T	C	18	31461215	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.56475697500875E-4	0.07
18	29041178	T	G	18	31461215	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.146170657020201	0.398
18	29041179	C	A	18	31461216	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.96990721885938	0.92
18	29041179	C	G	18	31461216	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.9822983194245E-4	0.0
18	29041179	C	T	18	31461216	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.55908716824608E-5	0.0
18	29041180	G	A	18	31461217	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.17664617304338E-4	0.0
18	29041180	G	C	18	31461217	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.07129673332809E-5	0.0
18	29041180	G	T	18	31461217	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.83595606021194E-5	0.002
18	29041181	C	A	18	31461218	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0435647810842104	0.128
18	29041181	C	G	18	31461218	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0138190268365392	0.174
18	29041181	C	T	18	31461218	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.04105180782852E-4	0.002
18	29041182	C	A	18	31461219	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00171326870154344	0.018
18	29041182	C	G	18	31461219	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00127935054771953	0.02
18	29041182	C	T	18	31461219	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.86173457217398E-5	0.002
18	29041183	T	A	18	31461220	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00103177568871241	0.042
18	29041183	T	C	18	31461220	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.27137446395547E-5	0.0
18	29041183	T	G	18	31461220	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.79082705655578E-4	0.006
18	29041184	T	A	18	31461221	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0104587233363187	0.11
18	29041184	T	C	18	31461221	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.73832347453591E-4	0.008
18	29041184	T	G	18	31461221	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00391506176903137	0.092
18	29041185	T	A	18	31461222	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.275409993361359	0.604
18	29041185	T	C	18	31461222	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0389176471291883	0.196
18	29041185	T	G	18	31461222	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.718978975544076	0.594
18	29041186	T	A	18	31461223	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.04040949584848E-4	0.012
18	29041186	T	C	18	31461223	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.61212290599471E-4	0.022
18	29041186	T	G	18	31461223	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.74391331082195E-4	0.012
18	29041187	C	A	18	31461224	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0941959148350605	0.352
18	29041187	C	G	18	31461224	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999316611997664	0.854
18	29041187	C	T	18	31461224	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00148678860167755	0.06
18	29041188	A	C	18	31461225	y	y	splicing	DSG3(NM_001944:exon8:c.814-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.814-2A>C)	.	.	0.999955107838025	0.926
18	29041188	A	G	18	31461225	y	y	splicing	DSG3(NM_001944:exon8:c.814-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.814-2A>G)	.	.	0.999955107838025	0.926
18	29041188	A	T	18	31461225	y	y	splicing	DSG3(NM_001944:exon8:c.814-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.814-2A>T)	.	.	0.999955107838025	0.922
18	29041189	G	A	18	31461226	y	y	splicing	DSG3(NM_001944:exon8:c.814-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.814-1G>A)	.	.	0.999969205341567	0.932
18	29041189	G	C	18	31461226	y	y	splicing	DSG3(NM_001944:exon8:c.814-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.814-1G>C)	.	.	0.999969205341567	0.946
18	29041189	G	T	18	31461226	y	y	splicing	DSG3(NM_001944:exon8:c.814-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.814-1G>T)	.	.	0.999969205341567	0.936
18	29041190	T	A	18	31461227	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.T814A:p.Y272N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.T814A:p.Y272N;	0.0144652463856353	0.236
18	29041190	T	C	18	31461227	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.T814C:p.Y272H;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.T814C:p.Y272H;	0.00981328857366619	0.178
18	29041190	T	G	18	31461227	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.T814G:p.Y272D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.T814G:p.Y272D;	0.0551921483206112	0.328
18	29041191	A	C	18	31461228	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.A815C:p.Y272S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.A815C:p.Y272S;	0.0676747136245271	0.158
18	29041191	A	G	18	31461228	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.A815G:p.Y272C;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.A815G:p.Y272C;	0.00675779268464944	0.09
18	29041191	A	T	18	31461228	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.A815T:p.Y272F;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.A815T:p.Y272F;	0.0416709852902056	0.164
18	29041373	A	C	18	31461410	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.A997C:p.K333Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.A997C:p.K333Q;	0.677326286768584	0.592
18	29041373	A	G	18	31461410	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.A997G:p.K333E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.A997G:p.K333E;	0.206633932856071	0.432
18	29041373	A	T	18	31461410	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon8:c.A997T:p.K333X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon8:c.A997T:p.K333X;	0.9457242039221	0.684
18	29041374	A	C	18	31461411	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.A998C:p.K333T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.A998C:p.K333T;	0.991493573743336	0.868
18	29041374	A	G	18	31461411	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.A998G:p.K333R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.A998G:p.K333R;	0.99924313494767	0.956
18	29041374	A	T	18	31461411	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.A998T:p.K333M;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.A998T:p.K333M;	0.997114996363777	0.806
18	29041375	G	A	18	31461412	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon8:c.G999A:p.K333K;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.G999A:p.K333K;	0.999869408208505	0.988
18	29041375	G	C	18	31461412	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.G999C:p.K333N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.G999C:p.K333N;	0.999948988549584	0.932
18	29041375	G	T	18	31461412	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon8:c.G999T:p.K333N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon8:c.G999T:p.K333N;	0.99995836028683	0.986
18	29041376	G	A	18	31461413	y	y	splicing	DSG3(NM_001944:exon8:c.999+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.999+1G>A)	.	.	0.999989072007339	0.934
18	29041376	G	C	18	31461413	y	y	splicing	DSG3(NM_001944:exon8:c.999+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.999+1G>C)	.	.	0.999989072007339	0.934
18	29041376	G	T	18	31461413	y	y	splicing	DSG3(NM_001944:exon8:c.999+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.999+1G>T)	.	.	0.999989072007339	0.934
18	29041377	T	A	18	31461414	y	y	splicing	DSG3(NM_001944:exon8:c.999+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.999+2T>A)	.	.	0.999988247793601	0.93
18	29041377	T	C	18	31461414	y	y	splicing	DSG3(NM_001944:exon8:c.999+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.999+2T>C)	.	.	0.994669226766359	0.666
18	29041377	T	G	18	31461414	y	y	splicing	DSG3(NM_001944:exon8:c.999+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon8:c.999+2T>G)	.	.	0.999988247793601	0.93
18	29041378	A	C	18	31461415	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.99950611990562	0.976
18	29041378	A	G	18	31461415	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.902494656552244	0.472
18	29041378	A	T	18	31461415	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999273487313545	0.984
18	29041379	A	C	18	31461416	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0658024300723604	0.286
18	29041379	A	G	18	31461416	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.38733884706781	0.348
18	29041379	A	T	18	31461416	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.152170254455203	0.26
18	29041380	G	A	18	31461417	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.204464656695756	0.428
18	29041380	G	C	18	31461417	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.237983297578436	0.416
18	29041380	G	T	18	31461417	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.135030110112922	0.394
18	29041381	G	A	18	31461418	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.81518928411636E-4	0.006
18	29041381	G	C	18	31461418	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.68253369323407E-4	0.022
18	29041381	G	T	18	31461418	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.82562401434539E-5	0.004
18	29041382	T	A	18	31461419	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.07014835428848E-5	0.0
18	29041382	T	C	18	31461419	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.07014835428848E-5	0.0
18	29041382	T	G	18	31461419	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.07014835428848E-5	0.0
18	29041383	C	A	18	31461420	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.14720235371151E-5	0.0
18	29041383	C	G	18	31461420	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.14720235371151E-5	0.0
18	29041383	C	T	18	31461420	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.14720235371151E-5	0.0
18	29044062	T	A	18	31464099	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.00208664765339E-4	0.072
18	29044062	T	C	18	31464099	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.51488607249109E-4	0.04
18	29044062	T	G	18	31464099	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999295338282919	0.938
18	29044063	T	A	18	31464100	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.62520899644724E-4	0.096
18	29044063	T	C	18	31464100	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.57292139555029E-4	0.008
18	29044063	T	G	18	31464100	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.02788748670783E-4	0.144
18	29044064	T	A	18	31464101	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.249000791430108	0.51
18	29044064	T	C	18	31464101	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.026039319953827	0.21
18	29044064	T	G	18	31464101	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0398393524407439	0.352
18	29044065	T	A	18	31464102	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00133367230244159	0.12
18	29044065	T	C	18	31464102	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.06403220364151E-4	0.008
18	29044065	T	G	18	31464102	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00213140161960729	0.13
18	29044066	T	A	18	31464103	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.96896723244657E-4	0.038
18	29044066	T	C	18	31464103	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.02121054876917E-5	0.0
18	29044066	T	G	18	31464103	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.06688737883188E-4	0.034
18	29044067	T	A	18	31464104	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.82333441104571E-4	0.034
18	29044067	T	C	18	31464104	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.32788972221636E-5	0.002
18	29044067	T	G	18	31464104	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.91773360978035E-5	0.006
18	29044068	C	A	18	31464105	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.30214383444849E-4	0.11
18	29044068	C	G	18	31464105	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00105241331624234	0.148
18	29044068	C	T	18	31464105	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.42159865166329E-5	0.0
18	29044069	T	A	18	31464106	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0265497583193885	0.384
18	29044069	T	C	18	31464106	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0101395508307794	0.118
18	29044069	T	G	18	31464106	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0223530149752443	0.424
18	29044070	C	A	18	31464107	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.79515094250063E-4	0.032
18	29044070	C	G	18	31464107	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.18143245382509E-4	0.034
18	29044070	C	T	18	31464107	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.23648771144226E-4	0.044
18	29044071	C	A	18	31464108	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.225096592788847	0.398
18	29044071	C	G	18	31464108	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.992887990363852	0.706
18	29044071	C	T	18	31464108	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00119220100975806	0.16
18	29044072	A	C	18	31464109	y	y	splicing	DSG3(NM_001944:exon9:c.1000-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1000-2A>C)	.	.	0.999988247793601	0.928
18	29044072	A	G	18	31464109	y	y	splicing	DSG3(NM_001944:exon9:c.1000-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1000-2A>G)	.	.	0.999988247793601	0.928
18	29044072	A	T	18	31464109	y	y	splicing	DSG3(NM_001944:exon9:c.1000-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1000-2A>T)	.	.	0.999988247793601	0.928
18	29044073	G	A	18	31464110	y	y	splicing	DSG3(NM_001944:exon9:c.1000-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1000-1G>A)	.	.	0.999990361384395	0.936
18	29044073	G	C	18	31464110	y	y	splicing	DSG3(NM_001944:exon9:c.1000-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1000-1G>C)	.	.	0.999990361384395	0.936
18	29044073	G	T	18	31464110	y	y	splicing	DSG3(NM_001944:exon9:c.1000-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1000-1G>T)	.	.	0.999990361384395	0.936
18	29044074	G	A	18	31464111	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.G1000A:p.A334T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.G1000A:p.A334T;	3.90762134667386E-4	0.068
18	29044074	G	C	18	31464111	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.G1000C:p.A334P;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.G1000C:p.A334P;	0.0138844449445648	0.216
18	29044074	G	T	18	31464111	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.G1000T:p.A334S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.G1000T:p.A334S;	0.0381761504980478	0.33
18	29044075	C	A	18	31464112	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.C1001A:p.A334D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.C1001A:p.A334D;	0.00504787340660118	0.076
18	29044075	C	G	18	31464112	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.C1001G:p.A334G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.C1001G:p.A334G;	0.00439385248804461	0.066
18	29044075	C	T	18	31464112	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.C1001T:p.A334V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.C1001T:p.A334V;	4.26077631185574E-4	0.02
18	29044343	C	A	18	31464380	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon9:c.C1269A:p.V423V;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.C1269A:p.V423V;	0.00413930861207839	0.15
18	29044343	C	G	18	31464380	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon9:c.C1269G:p.V423V;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.C1269G:p.V423V;	0.0303740675897859	0.218
18	29044343	C	T	18	31464380	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon9:c.C1269T:p.V423V;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.C1269T:p.V423V;	0.914293084871897	0.57
18	29044344	A	C	18	31464381	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.A1270C:p.K424Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.A1270C:p.K424Q;	0.872563281555491	0.78
18	29044344	A	G	18	31464381	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.A1270G:p.K424E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.A1270G:p.K424E;	0.547090441483286	0.584
18	29044344	A	T	18	31464381	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon9:c.A1270T:p.K424X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon9:c.A1270T:p.K424X;	0.999670894533265	0.926
18	29044345	A	C	18	31464382	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.A1271C:p.K424T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.A1271C:p.K424T;	2.46135691142124E-5	0.002
18	29044345	A	G	18	31464382	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.A1271G:p.K424R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.A1271G:p.K424R;	3.91458367308385E-5	0.048
18	29044345	A	T	18	31464382	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon9:c.A1271T:p.K424I;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon9:c.A1271T:p.K424I;	1.54655621925929E-4	0.06
18	29044346	G	A	18	31464383	y	y	splicing	DSG3(NM_001944:exon9:c.1271+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1271+1G>A)	.	.	0.999971209564868	0.936
18	29044346	G	C	18	31464383	y	y	splicing	DSG3(NM_001944:exon9:c.1271+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1271+1G>C)	.	.	0.999976475802857	0.906
18	29044346	G	T	18	31464383	y	y	splicing	DSG3(NM_001944:exon9:c.1271+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1271+1G>T)	.	.	0.999970205305079	0.924
18	29044347	T	A	18	31464384	y	y	splicing	DSG3(NM_001944:exon9:c.1271+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1271+2T>A)	.	.	0.999964896440643	0.936
18	29044347	T	C	18	31464384	y	y	splicing	DSG3(NM_001944:exon9:c.1271+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1271+2T>C)	.	.	0.990999696186992	0.64
18	29044347	T	G	18	31464384	y	y	splicing	DSG3(NM_001944:exon9:c.1271+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon9:c.1271+2T>G)	.	.	0.999971317418422	0.898
18	29044348	A	C	18	31464385	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999425276951124	0.868
18	29044348	A	G	18	31464385	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0346694844949252	0.276
18	29044348	A	T	18	31464385	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999425276951124	0.87
18	29044349	A	C	18	31464386	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.494861034641419	0.566
18	29044349	A	G	18	31464386	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.974370994679501	0.702
18	29044349	A	T	18	31464386	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.900977380290693	0.626
18	29044350	G	A	18	31464387	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999937409724015	0.9
18	29044350	G	C	18	31464387	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999812646599086	0.928
18	29044350	G	T	18	31464387	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999970023473569	0.86
18	29044351	A	C	18	31464388	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.94232416584734E-5	0.02
18	29044351	A	G	18	31464388	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.71617447096852E-6	0.004
18	29044351	A	T	18	31464388	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.83029119105878E-5	0.002
18	29044352	C	A	18	31464389	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.36427992166171E-5	0.002
18	29044352	C	G	18	31464389	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.24983961794259E-4	0.0
18	29044352	C	T	18	31464389	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.19679638959151E-4	0.022
18	29044353	T	A	18	31464390	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.83340384846294E-5	0.0
18	29044353	T	C	18	31464390	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.78662238186337E-5	0.0
18	29044353	T	G	18	31464390	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.74505811718821E-5	0.0
18	29045269	A	C	18	31465306	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.27219349862041E-5	0.004
18	29045269	A	G	18	31465306	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.80952496263223E-6	0.02
18	29045269	A	T	18	31465306	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.27219349862041E-5	0.0
18	29045270	T	A	18	31465307	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.853158216192772	0.672
18	29045270	T	C	18	31465307	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0747223829371075	0.488
18	29045270	T	G	18	31465307	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999956594917387	0.972
18	29045271	T	A	18	31465308	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.470247432967521	0.498
18	29045271	T	C	18	31465308	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.21314442442298E-4	0.062
18	29045271	T	G	18	31465308	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0647997240730191	0.418
18	29045272	A	C	18	31465309	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.0849720103134E-5	0.016
18	29045272	A	G	18	31465309	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.52512679037941E-5	0.002
18	29045272	A	T	18	31465309	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.4427856976112E-4	0.03
18	29045273	T	A	18	31465310	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999783386063827	0.99
18	29045273	T	C	18	31465310	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.2937070157763E-4	0.048
18	29045273	T	G	18	31465310	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999783386063827	0.99
18	29045274	G	A	18	31465311	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.18826335367416E-5	0.01
18	29045274	G	C	18	31465311	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.33383156939655E-5	0.0
18	29045274	G	T	18	31465311	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.33383156939655E-5	0.018
18	29045275	A	C	18	31465312	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.0580812053964E-5	0.018
18	29045275	A	G	18	31465312	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.47080016295569E-6	0.01
18	29045275	A	T	18	31465312	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.37583047514653E-5	0.028
18	29045276	A	C	18	31465313	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.7094541672111E-4	0.01
18	29045276	A	G	18	31465313	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999129135746281	0.972
18	29045276	A	T	18	31465313	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.92633395822865E-4	0.124
18	29045277	A	C	18	31465314	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00110365606826511	0.072
18	29045277	A	G	18	31465314	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998539484537283	0.926
18	29045277	A	T	18	31465314	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00380080917808356	0.114
18	29045278	C	A	18	31465315	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.99781123120386	0.858
18	29045278	C	G	18	31465315	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999834664276299	0.784
18	29045278	C	T	18	31465315	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00342322957687609	0.282
18	29045279	A	C	18	31465316	y	y	splicing	DSG3(NM_001944:exon10:c.1272-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1272-2A>C)	.	.	0.999977998543129	0.856
18	29045279	A	G	18	31465316	y	y	splicing	DSG3(NM_001944:exon10:c.1272-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1272-2A>G)	.	.	0.999977998543129	0.856
18	29045279	A	T	18	31465316	y	y	splicing	DSG3(NM_001944:exon10:c.1272-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1272-2A>T)	.	.	0.99997766652965	0.868
18	29045280	G	A	18	31465317	y	y	splicing	DSG3(NM_001944:exon10:c.1272-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1272-1G>A)	.	.	0.999970703151998	0.856
18	29045280	G	C	18	31465317	y	y	splicing	DSG3(NM_001944:exon10:c.1272-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1272-1G>C)	.	.	0.999970703151998	0.858
18	29045280	G	T	18	31465317	y	y	splicing	DSG3(NM_001944:exon10:c.1272-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1272-1G>T)	.	.	0.999970703151998	0.858
18	29045281	A	C	18	31465318	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.A1272C:p.K424N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.A1272C:p.K424N;	5.06578545335175E-4	0.05
18	29045281	A	G	18	31465318	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon10:c.A1272G:p.K424K;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.A1272G:p.K424K;	1.15646261806227E-5	0.0
18	29045281	A	T	18	31465318	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.A1272T:p.K424N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.A1272T:p.K424N;	7.05721550175775E-4	0.066
18	29045282	T	A	18	31465319	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.T1273A:p.Y425N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.T1273A:p.Y425N;	0.739253798141896	0.3
18	29045282	T	C	18	31465319	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.T1273C:p.Y425H;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.T1273C:p.Y425H;	0.71893280961089	0.282
18	29045282	T	G	18	31465319	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.T1273G:p.Y425D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.T1273G:p.Y425D;	0.363689604377199	0.242
18	29045418	A	C	18	31465455	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.A1409C:p.D470A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.A1409C:p.D470A;	0.582183116299173	0.434
18	29045418	A	G	18	31465455	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.A1409G:p.D470G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.A1409G:p.D470G;	0.322514187052486	0.418
18	29045418	A	T	18	31465455	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.A1409T:p.D470V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.A1409T:p.D470V;	0.952667637551334	0.482
18	29045419	T	A	18	31465456	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.T1410A:p.D470E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.T1410A:p.D470E;	2.63371633366585E-5	0.07
18	29045419	T	C	18	31465456	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon10:c.T1410C:p.D470D;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.T1410C:p.D470D;	2.66937387520976E-5	0.0
18	29045419	T	G	18	31465456	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.T1410G:p.D470E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.T1410G:p.D470E;	4.82799202524842E-5	0.0
18	29045420	G	A	18	31465457	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.G1411A:p.E471K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.G1411A:p.E471K;	0.999946607158303	0.978
18	29045420	G	C	18	31465457	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon10:c.G1411C:p.E471Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon10:c.G1411C:p.E471Q;	0.999979961833761	0.966
18	29045420	G	T	18	31465457	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon10:c.G1411T:p.E471X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon10:c.G1411T:p.E471X;	0.999992465663694	0.996
18	29045421	G	A	18	31465458	y	y	splicing	DSG3(NM_001944:exon10:c.1411+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1411+1G>A)	.	.	0.99995545544995	0.94
18	29045421	G	C	18	31465458	y	y	splicing	DSG3(NM_001944:exon10:c.1411+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1411+1G>C)	.	.	0.99995586615188	0.94
18	29045421	G	T	18	31465458	y	y	splicing	DSG3(NM_001944:exon10:c.1411+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1411+1G>T)	.	.	0.99995586615188	0.94
18	29045422	T	A	18	31465459	y	y	splicing	DSG3(NM_001944:exon10:c.1411+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1411+2T>A)	.	.	0.999945570227849	0.888
18	29045422	T	C	18	31465459	y	y	splicing	DSG3(NM_001944:exon10:c.1411+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1411+2T>C)	.	.	0.99984112184182	0.872
18	29045422	T	G	18	31465459	y	y	splicing	DSG3(NM_001944:exon10:c.1411+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon10:c.1411+2T>G)	.	.	0.999967504297517	0.894
18	29045423	A	C	18	31465460	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.98315820560079	0.804
18	29045423	A	G	18	31465460	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0736127272850993	0.324
18	29045423	A	T	18	31465460	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.981488149251887	0.82
18	29045424	A	C	18	31465461	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.910642550438559	0.532
18	29045424	A	G	18	31465461	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.926868907443436	0.672
18	29045424	A	T	18	31465461	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.94634512354365	0.702
18	29045425	G	A	18	31465462	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999414433548646	0.89
18	29045425	G	C	18	31465462	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999819486804371	0.928
18	29045425	G	T	18	31465462	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998904093921396	0.76
18	29045426	A	C	18	31465463	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00289726355346284	0.024
18	29045426	A	G	18	31465463	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.5494977296356E-4	0.002
18	29045426	A	T	18	31465463	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.03807202486322E-4	0.008
18	29045427	A	C	18	31465464	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.06981289719836E-5	0.0
18	29045427	A	G	18	31465464	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.62520678364522E-5	0.004
18	29045427	A	T	18	31465464	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.0821220479857E-5	0.0
18	29045428	A	C	18	31465465	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00146646833899732	0.02
18	29045428	A	G	18	31465465	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00193368460629301	0.02
18	29045428	A	T	18	31465465	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00193368460629301	0.02
18	29046481	T	A	18	31466518	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.049146749033523	0.486
18	29046481	T	C	18	31466518	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00182236722708526	0.09
18	29046481	T	G	18	31466518	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999332443792681	0.944
18	29046482	T	A	18	31466519	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999910145129271	0.972
18	29046482	T	C	18	31466519	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.76607307456479E-4	0.09
18	29046482	T	G	18	31466519	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.88470401328843	0.404
18	29046483	G	A	18	31466520	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.62718068834089E-4	0.0
18	29046483	G	C	18	31466520	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.79973310716145E-6	0.0
18	29046483	G	T	18	31466520	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.58645906776164E-5	0.0
18	29046484	T	A	18	31466521	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0323874060642591	0.28
18	29046484	T	C	18	31466521	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00146032447238827	0.038
18	29046484	T	G	18	31466521	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0233475343181014	0.23
18	29046485	T	A	18	31466522	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.236401150615482	0.472
18	29046485	T	C	18	31466522	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.03443781568844E-4	0.038
18	29046485	T	G	18	31466522	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0695155759333357	0.446
18	29046486	C	A	18	31466523	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.126953760454914	0.192
18	29046486	C	G	18	31466523	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00234466609737004	0.104
18	29046486	C	T	18	31466523	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.86604665149161E-4	0.014
18	29046487	T	A	18	31466524	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.670642991251961	0.518
18	29046487	T	C	18	31466524	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.77014739861825E-4	0.012
18	29046487	T	G	18	31466524	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.958255535290098	0.688
18	29046488	T	A	18	31466525	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.668417751101147	0.492
18	29046488	T	C	18	31466525	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0385218372767278	0.202
18	29046488	T	G	18	31466525	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.911528248131249	0.554
18	29046489	A	C	18	31466526	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00266233209188041	0.11
18	29046489	A	G	18	31466526	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00465012176821046	0.14
18	29046489	A	T	18	31466526	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.002819860440236	0.05
18	29046490	C	A	18	31466527	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.966809547768958	0.806
18	29046490	C	G	18	31466527	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999123867799424	0.88
18	29046490	C	T	18	31466527	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0907433502809713	0.41
18	29046491	A	C	18	31466528	y	y	splicing	DSG3(NM_001944:exon11:c.1412-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1412-2A>C)	.	.	0.999957711392063	0.952
18	29046491	A	G	18	31466528	y	y	splicing	DSG3(NM_001944:exon11:c.1412-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1412-2A>G)	.	.	0.999957711392063	0.952
18	29046491	A	T	18	31466528	y	y	splicing	DSG3(NM_001944:exon11:c.1412-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1412-2A>T)	.	.	0.999957711392063	0.958
18	29046492	G	A	18	31466529	y	y	splicing	DSG3(NM_001944:exon11:c.1412-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1412-1G>A)	.	.	0.999960677121282	0.95
18	29046492	G	C	18	31466529	y	y	splicing	DSG3(NM_001944:exon11:c.1412-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1412-1G>C)	.	.	0.999960677121282	0.948
18	29046492	G	T	18	31466529	y	y	splicing	DSG3(NM_001944:exon11:c.1412-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1412-1G>T)	.	.	0.999960677121282	0.946
18	29046493	A	C	18	31466530	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.A1412C:p.E471A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1412C:p.E471A;	0.00387699684884864	0.148
18	29046493	A	G	18	31466530	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.A1412G:p.E471G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1412G:p.E471G;	2.78383519176822E-5	0.002
18	29046493	A	T	18	31466530	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.A1412T:p.E471V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1412T:p.E471V;	0.00255953532271268	0.144
18	29046494	A	C	18	31466531	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.A1413C:p.E471D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1413C:p.E471D;	1.87218747843906E-4	0.066
18	29046494	A	G	18	31466531	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon11:c.A1413G:p.E471E;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1413G:p.E471E;	1.12425647829394E-4	0.026
18	29046494	A	T	18	31466531	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.A1413T:p.E471D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1413T:p.E471D;	1.68174690934882E-4	0.008
18	29046715	A	C	18	31466752	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.A1634C:p.N545T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1634C:p.N545T;	0.84007843456749	0.664
18	29046715	A	G	18	31466752	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.A1634G:p.N545S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1634G:p.N545S;	0.488834281795387	0.482
18	29046715	A	T	18	31466752	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.A1634T:p.N545I;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.A1634T:p.N545I;	0.973012787315691	0.636
18	29046716	T	A	18	31466753	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.T1635A:p.N545K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.T1635A:p.N545K;	2.67409259070636E-5	0.234
18	29046716	T	C	18	31466753	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon11:c.T1635C:p.N545N;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.T1635C:p.N545N;	6.97604866967984E-5	0.04
18	29046716	T	G	18	31466753	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.T1635G:p.N545K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.T1635G:p.N545K;	1.68640037448164E-4	0.154
18	29046717	G	A	18	31466754	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.G1636A:p.A546T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.G1636A:p.A546T;	0.9999407911439	0.918
18	29046717	G	C	18	31466754	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.G1636C:p.A546P;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.G1636C:p.A546P;	0.999965192595475	0.96
18	29046717	G	T	18	31466754	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon11:c.G1636T:p.A546S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon11:c.G1636T:p.A546S;	0.998744808906089	0.824
18	29046718	G	A	18	31466755	y	y	splicing	DSG3(NM_001944:exon11:c.1636+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1636+1G>A)	.	.	0.999990361384395	0.938
18	29046718	G	C	18	31466755	y	y	splicing	DSG3(NM_001944:exon11:c.1636+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1636+1G>C)	.	.	0.999990361384395	0.938
18	29046718	G	T	18	31466755	y	y	splicing	DSG3(NM_001944:exon11:c.1636+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1636+1G>T)	.	.	0.999990361384395	0.938
18	29046719	T	A	18	31466756	y	y	splicing	DSG3(NM_001944:exon11:c.1636+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1636+2T>A)	.	.	0.999988247793601	0.932
18	29046719	T	C	18	31466756	y	y	splicing	DSG3(NM_001944:exon11:c.1636+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1636+2T>C)	.	.	0.999929727175276	0.87
18	29046719	T	G	18	31466756	y	y	splicing	DSG3(NM_001944:exon11:c.1636+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon11:c.1636+2T>G)	.	.	0.999988247793601	0.932
18	29046720	G	A	18	31466757	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.01895343609198E-4	0.01
18	29046720	G	C	18	31466757	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.993143248885468	0.708
18	29046720	G	T	18	31466757	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.512085779340775	0.572
18	29046721	A	C	18	31466758	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.990596647050682	0.74
18	29046721	A	G	18	31466758	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.99701330657788	0.858
18	29046721	A	T	18	31466758	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.997463597207961	0.872
18	29046722	G	A	18	31466759	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999821678998813	0.978
18	29046722	G	C	18	31466759	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999921092484309	0.98
18	29046722	G	T	18	31466759	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999657714998469	0.898
18	29046723	T	A	18	31466760	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00510643445901409	0.126
18	29046723	T	C	18	31466760	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00124802149622788	0.03
18	29046723	T	G	18	31466760	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00142427540021209	0.074
18	29046724	A	C	18	31466761	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.4397131142504E-5	0.0
18	29046724	A	G	18	31466761	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.24450295635078E-5	0.0
18	29046724	A	T	18	31466761	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.40736759557739E-4	0.0
18	29046725	A	C	18	31466762	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.25750359445004E-5	0.0
18	29046725	A	G	18	31466762	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.48383415637187E-5	0.0
18	29046725	A	T	18	31466762	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.25750359445004E-5	0.0
18	29049040	C	A	18	31469077	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.75478748602671E-4	0.104
18	29049040	C	G	18	31469077	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.87219427249272E-4	0.002
18	29049040	C	T	18	31469077	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.27548350319013E-5	0.0
18	29049041	T	A	18	31469078	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00121240907519772	0.236
18	29049041	T	C	18	31469078	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.9227562131577E-4	0.05
18	29049041	T	G	18	31469078	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.13456698406875E-4	0.242
18	29049042	T	A	18	31469079	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0142413722172389	0.092
18	29049042	T	C	18	31469079	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.47130043326427E-4	0.03
18	29049042	T	G	18	31469079	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00307498963302332	0.092
18	29049043	T	A	18	31469080	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.014571628709852	0.138
18	29049043	T	C	18	31469080	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00159551953143435	0.016
18	29049043	T	G	18	31469080	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0147225601690372	0.154
18	29049044	C	A	18	31469081	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.05815347168908E-4	0.136
18	29049044	C	G	18	31469081	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.96905939735104E-4	0.12
18	29049044	C	T	18	31469081	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.11938550067911E-5	0.014
18	29049045	T	A	18	31469082	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.28769005151783E-4	0.05
18	29049045	T	C	18	31469082	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.28198585217304E-5	0.0
18	29049045	T	G	18	31469082	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.96339759517582E-4	0.036
18	29049046	C	A	18	31469083	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00244942665069981	0.184
18	29049046	C	G	18	31469083	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00296925626026994	0.164
18	29049046	C	T	18	31469083	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.86245838047244E-5	0.002
18	29049047	T	A	18	31469084	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00255610388144776	0.064
18	29049047	T	C	18	31469084	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.69477999579669E-5	0.002
18	29049047	T	G	18	31469084	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00302420975210617	0.066
18	29049048	A	C	18	31469085	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.67196919987257E-5	0.008
18	29049048	A	G	18	31469085	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.35713912652815E-5	0.0
18	29049048	A	T	18	31469085	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.05383778777894E-4	0.02
18	29049049	C	A	18	31469086	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.509685321480063	0.526
18	29049049	C	G	18	31469086	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999753085079092	0.942
18	29049049	C	T	18	31469086	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.33155357316166E-4	0.122
18	29049050	A	C	18	31469087	y	y	splicing	DSG3(NM_001944:exon12:c.1637-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1637-2A>C)	.	.	0.99994568797423	0.944
18	29049050	A	G	18	31469087	y	y	splicing	DSG3(NM_001944:exon12:c.1637-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1637-2A>G)	.	.	0.99994568797423	0.944
18	29049050	A	T	18	31469087	y	y	splicing	DSG3(NM_001944:exon12:c.1637-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1637-2A>T)	.	.	0.99994568797423	0.934
18	29049051	G	A	18	31469088	y	y	splicing	DSG3(NM_001944:exon12:c.1637-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1637-1G>A)	.	.	0.99995545544995	0.936
18	29049051	G	C	18	31469088	y	y	splicing	DSG3(NM_001944:exon12:c.1637-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1637-1G>C)	.	.	0.99995545544995	0.944
18	29049051	G	T	18	31469088	y	y	splicing	DSG3(NM_001944:exon12:c.1637-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1637-1G>T)	.	.	0.99995545544995	0.944
18	29049052	C	A	18	31469089	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon12:c.C1637A:p.A546D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.C1637A:p.A546D;	1.16100073079088E-4	0.0
18	29049052	C	G	18	31469089	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon12:c.C1637G:p.A546G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.C1637G:p.A546G;	2.9484605437432E-4	0.092
18	29049052	C	T	18	31469089	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon12:c.C1637T:p.A546V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.C1637T:p.A546V;	5.2970186574439E-4	0.034
18	29049053	T	A	18	31469090	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon12:c.T1638A:p.A546A;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1638A:p.A546A;	1.16603974629758E-4	0.002
18	29049053	T	C	18	31469090	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon12:c.T1638C:p.A546A;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1638C:p.A546A;	1.16603974629758E-4	0.006
18	29049053	T	G	18	31469090	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon12:c.T1638G:p.A546A;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1638G:p.A546A;	1.43556488562397E-4	0.002
18	29049310	T	A	18	31469347	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon12:c.T1895A:p.L632Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1895A:p.L632Q;	0.565202910852926	0.558
18	29049310	T	C	18	31469347	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon12:c.T1895C:p.L632P;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1895C:p.L632P;	0.592362875471498	0.504
18	29049310	T	G	18	31469347	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon12:c.T1895G:p.L632R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1895G:p.L632R;	0.589816010213696	0.476
18	29049311	G	A	18	31469348	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon12:c.G1896A:p.L632L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.G1896A:p.L632L;	1.34823073660276E-4	0.018
18	29049311	G	C	18	31469348	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon12:c.G1896C:p.L632L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.G1896C:p.L632L;	2.58542274471508E-4	0.114
18	29049311	G	T	18	31469348	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon12:c.G1896T:p.L632L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.G1896T:p.L632L;	0.0010674330016692	0.086
18	29049312	T	A	18	31469349	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon12:c.T1897A:p.L633M;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1897A:p.L633M;	0.0649353792003242	0.154
18	29049312	T	C	18	31469349	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon12:c.T1897C:p.L633L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1897C:p.L633L;	0.0364602604350139	0.362
18	29049312	T	G	18	31469349	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon12:c.T1897G:p.L633V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon12:c.T1897G:p.L633V;	0.0235925401193173	0.204
18	29049313	G	A	18	31469350	y	y	splicing	DSG3(NM_001944:exon12:c.1897+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1897+1G>A)	.	.	0.999989072007339	0.93
18	29049313	G	C	18	31469350	y	y	splicing	DSG3(NM_001944:exon12:c.1897+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1897+1G>C)	.	.	0.999989072007339	0.93
18	29049313	G	T	18	31469350	y	y	splicing	DSG3(NM_001944:exon12:c.1897+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1897+1G>T)	.	.	0.999989072007339	0.93
18	29049314	T	A	18	31469351	y	y	splicing	DSG3(NM_001944:exon12:c.1897+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1897+2T>A)	.	.	0.999988247793601	0.922
18	29049314	T	C	18	31469351	y	y	splicing	DSG3(NM_001944:exon12:c.1897+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1897+2T>C)	.	.	0.999970504444413	0.95
18	29049314	T	G	18	31469351	y	y	splicing	DSG3(NM_001944:exon12:c.1897+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon12:c.1897+2T>G)	.	.	0.999978952611685	0.924
18	29049315	G	A	18	31469352	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00170686225316005	0.05
18	29049315	G	C	18	31469352	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998909446388667	0.764
18	29049315	G	T	18	31469352	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999169958540954	0.734
18	29049316	A	C	18	31469353	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999911045232802	0.916
18	29049316	A	G	18	31469353	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999813231727747	0.892
18	29049316	A	T	18	31469353	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999802536139914	0.874
18	29049317	G	A	18	31469354	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999974250893847	0.98
18	29049317	G	C	18	31469354	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999962142316486	0.924
18	29049317	G	T	18	31469354	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999962142316486	0.892
18	29049318	T	A	18	31469355	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999306466783521	0.772
18	29049318	T	C	18	31469355	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.986482877530371	0.836
18	29049318	T	G	18	31469355	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.991516476912948	0.796
18	29049319	A	C	18	31469356	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00160804891376269	0.016
18	29049319	A	G	18	31469356	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00133175763166081	0.01
18	29049319	A	T	18	31469356	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00864160518241949	0.05
18	29049320	G	A	18	31469357	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.71680678814724E-4	0.018
18	29049320	G	C	18	31469357	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.24269905552459E-4	0.0
18	29049320	G	T	18	31469357	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.34648683123416E-4	0.016
18	29052235	G	A	18	31472272	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.69914986383721E-4	0.002
18	29052235	G	C	18	31472272	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.05063985866155E-5	0.0
18	29052235	G	T	18	31472272	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.1576534558442E-5	0.002
18	29052236	T	A	18	31472273	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.441951301682616	0.554
18	29052236	T	C	18	31472273	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00101543766403986	0.108
18	29052236	T	G	18	31472273	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.218909917699833	0.572
18	29052237	T	A	18	31472274	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.908956223147962	0.826
18	29052237	T	C	18	31472274	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0117999918907101	0.094
18	29052237	T	G	18	31472274	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.959163353856455	0.73
18	29052238	T	A	18	31472275	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.170334642969029	0.43
18	29052238	T	C	18	31472275	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	9.03938993246156E-4	0.03
18	29052238	T	G	18	31472275	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0469995637351724	0.35
18	29052239	T	A	18	31472276	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00222151441427438	0.038
18	29052239	T	C	18	31472276	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.16309959478135E-5	0.002
18	29052239	T	G	18	31472276	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.0437634377873E-4	0.048
18	29052240	T	A	18	31472277	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00456470792149359	0.054
18	29052240	T	C	18	31472277	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.13883911956869E-4	0.008
18	29052240	T	G	18	31472277	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00139692142699949	0.044
18	29052241	C	A	18	31472278	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.25371603455166E-4	0.076
18	29052241	C	G	18	31472278	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.39051340464959E-4	0.128
18	29052241	C	T	18	31472278	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.25560239969339E-5	0.0
18	29052242	A	C	18	31472279	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.74741593466751E-5	0.016
18	29052242	A	G	18	31472279	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.43529478399452E-5	0.014
18	29052242	A	T	18	31472279	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.20472694728488E-4	0.108
18	29052243	C	A	18	31472280	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.46135691142124E-5	0.0
18	29052243	C	G	18	31472280	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.903677068185116	0.886
18	29052243	C	T	18	31472280	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.47508136162089E-5	0.0
18	29052244	T	A	18	31472281	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0629384287509799	0.356
18	29052244	T	C	18	31472281	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.02976194249644E-5	0.014
18	29052244	T	G	18	31472281	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.993496612950643	0.682
18	29052245	A	C	18	31472282	y	y	splicing	DSG3(NM_001944:exon13:c.1898-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.1898-2A>C)	.	.	0.99996509239462	0.94
18	29052245	A	G	18	31472282	y	y	splicing	DSG3(NM_001944:exon13:c.1898-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.1898-2A>G)	.	.	0.99996509239462	0.94
18	29052245	A	T	18	31472282	y	y	splicing	DSG3(NM_001944:exon13:c.1898-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.1898-2A>T)	.	.	0.99996509239462	0.932
18	29052246	G	A	18	31472283	y	y	splicing	DSG3(NM_001944:exon13:c.1898-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.1898-1G>A)	.	.	0.999982737877662	0.928
18	29052246	G	C	18	31472283	y	y	splicing	DSG3(NM_001944:exon13:c.1898-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.1898-1G>C)	.	.	0.99995545544995	0.922
18	29052246	G	T	18	31472283	y	y	splicing	DSG3(NM_001944:exon13:c.1898-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.1898-1G>T)	.	.	0.999982737877662	0.922
18	29052247	T	A	18	31472284	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon13:c.T1898A:p.L633X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon13:c.T1898A:p.L633X;	0.719148112033145	0.75
18	29052247	T	C	18	31472284	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.T1898C:p.L633S;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.T1898C:p.L633S;	0.722729589333534	0.494
18	29052247	T	G	18	31472284	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.T1898G:p.L633W;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.T1898G:p.L633W;	0.786938353318922	0.548
18	29052248	G	A	18	31472285	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon13:c.G1899A:p.L633L;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.G1899A:p.L633L;	0.00460860920713177	0.136
18	29052248	G	C	18	31472285	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.G1899C:p.L633F;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.G1899C:p.L633F;	0.223368141309883	0.5
18	29052248	G	T	18	31472285	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.G1899T:p.L633F;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.G1899T:p.L633F;	0.47820921869662	0.47
18	29052384	A	C	18	31472421	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.A2035C:p.K679Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.A2035C:p.K679Q;	0.696747693701594	0.566
18	29052384	A	G	18	31472421	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.A2035G:p.K679E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.A2035G:p.K679E;	0.273015513656274	0.414
18	29052384	A	T	18	31472421	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon13:c.A2035T:p.K679X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon13:c.A2035T:p.K679X;	0.931601850224203	0.584
18	29052385	A	C	18	31472422	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.A2036C:p.K679T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.A2036C:p.K679T;	0.995289795411555	0.864
18	29052385	A	G	18	31472422	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.A2036G:p.K679R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.A2036G:p.K679R;	0.685238398794792	0.514
18	29052385	A	T	18	31472422	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.A2036T:p.K679M;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.A2036T:p.K679M;	0.996562316647615	0.654
18	29052386	G	A	18	31472423	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon13:c.G2037A:p.K679K;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.G2037A:p.K679K;	0.762585987076357	0.7
18	29052386	G	C	18	31472423	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.G2037C:p.K679N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.G2037C:p.K679N;	0.998994011028177	0.91
18	29052386	G	T	18	31472423	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon13:c.G2037T:p.K679N;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon13:c.G2037T:p.K679N;	0.997812303345683	0.918
18	29052387	G	A	18	31472424	y	y	splicing	DSG3(NM_001944:exon13:c.2037+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.2037+1G>A)	.	.	0.999990361384395	0.926
18	29052387	G	C	18	31472424	y	y	splicing	DSG3(NM_001944:exon13:c.2037+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.2037+1G>C)	.	.	0.999990361384395	0.926
18	29052387	G	T	18	31472424	y	y	splicing	DSG3(NM_001944:exon13:c.2037+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.2037+1G>T)	.	.	0.999990361384395	0.926
18	29052388	T	A	18	31472425	y	y	splicing	DSG3(NM_001944:exon13:c.2037+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.2037+2T>A)	.	.	0.999992446697775	0.928
18	29052388	T	C	18	31472425	y	y	splicing	DSG3(NM_001944:exon13:c.2037+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.2037+2T>C)	.	.	0.989838600809155	0.638
18	29052388	T	G	18	31472425	y	y	splicing	DSG3(NM_001944:exon13:c.2037+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon13:c.2037+2T>G)	.	.	0.999992446697775	0.928
18	29052389	A	C	18	31472426	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.819438511098054	0.55
18	29052389	A	G	18	31472426	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.65099985863648E-4	0.048
18	29052389	A	T	18	31472426	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.890557648750572	0.534
18	29052390	A	C	18	31472427	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.147611609416085	0.274
18	29052390	A	G	18	31472427	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.119857670803328	0.31
18	29052390	A	T	18	31472427	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.214677145741221	0.26
18	29052391	G	A	18	31472428	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.286675586263352	0.426
18	29052391	G	C	18	31472428	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.293544737242597	0.462
18	29052391	G	T	18	31472428	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.689784207918388	0.492
18	29052392	C	A	18	31472429	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.18107758154403E-5	0.0
18	29052392	C	G	18	31472429	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.26336059330352E-4	0.026
18	29052392	C	T	18	31472429	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.36965619325028E-5	0.0
18	29052393	A	C	18	31472430	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.72841159385093E-5	0.0
18	29052393	A	G	18	31472430	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.72841159385093E-5	0.0
18	29052393	A	T	18	31472430	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.72841159385093E-5	0.0
18	29052394	T	A	18	31472431	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.99196838039782E-5	0.0
18	29052394	T	C	18	31472431	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.69439264402225E-5	0.0
18	29052394	T	G	18	31472431	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.99196838039782E-5	0.0
18	29052676	C	A	18	31472713	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.56509697350124E-5	0.112
18	29052676	C	G	18	31472713	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.99775552528171	0.924
18	29052676	C	T	18	31472713	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.42982077390183E-5	0.012
18	29052677	A	C	18	31472714	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.58645906776164E-5	0.002
18	29052677	A	G	18	31472714	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.00630492683456E-5	0.056
18	29052677	A	T	18	31472714	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.37259882075786E-5	0.058
18	29052678	T	A	18	31472715	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999957707454681	0.978
18	29052678	T	C	18	31472715	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.0801292747127E-4	0.006
18	29052678	T	G	18	31472715	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999984898417641	0.982
18	29052679	G	A	18	31472716	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998744303473659	0.966
18	29052679	G	C	18	31472716	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.0815594409041E-4	0.052
18	29052679	G	T	18	31472716	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.7038812793753E-4	0.088
18	29052680	G	A	18	31472717	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.65988295896647E-4	0.028
18	29052680	G	C	18	31472717	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.13055622037723E-6	0.0
18	29052680	G	T	18	31472717	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.80932562428005E-6	0.0
18	29052681	T	A	18	31472718	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.231281651994506	0.47
18	29052681	T	C	18	31472718	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.35860885117138E-4	0.052
18	29052681	T	G	18	31472718	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.578834425998039	0.478
18	29052682	T	A	18	31472719	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.996764392067055	0.884
18	29052682	T	C	18	31472719	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0500716202017281	0.12
18	29052682	T	G	18	31472719	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.977643350615527	0.864
18	29052683	T	A	18	31472720	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999767260829349	0.962
18	29052683	T	C	18	31472720	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.741545618563355	0.408
18	29052683	T	G	18	31472720	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.998844685577202	0.926
18	29052684	G	A	18	31472721	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.75770399836104E-4	0.01
18	29052684	G	C	18	31472721	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.09332399846095E-4	0.0
18	29052684	G	T	18	31472721	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.97978205410496E-4	0.0
18	29052685	C	A	18	31472722	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.965664041928238	0.766
18	29052685	C	G	18	31472722	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999769664296078	0.87
18	29052685	C	T	18	31472722	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00276603905164529	0.182
18	29052686	A	C	18	31472723	y	y	splicing	DSG3(NM_001944:exon14:c.2038-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2038-2A>C)	.	.	0.999986741007567	0.944
18	29052686	A	G	18	31472723	y	y	splicing	DSG3(NM_001944:exon14:c.2038-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2038-2A>G)	.	.	0.999986741007567	0.944
18	29052686	A	T	18	31472723	y	y	splicing	DSG3(NM_001944:exon14:c.2038-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2038-2A>T)	.	.	0.999986741007567	0.944
18	29052687	G	A	18	31472724	y	y	splicing	DSG3(NM_001944:exon14:c.2038-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2038-1G>A)	.	.	0.9999922696839	0.948
18	29052687	G	C	18	31472724	y	y	splicing	DSG3(NM_001944:exon14:c.2038-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2038-1G>C)	.	.	0.9999922696839	0.948
18	29052687	G	T	18	31472724	y	y	splicing	DSG3(NM_001944:exon14:c.2038-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2038-1G>T)	.	.	0.9999922696839	0.948
18	29052688	G	A	18	31472725	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.G2038A:p.E680K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.G2038A:p.E680K;	0.999695965296211	0.95
18	29052688	G	C	18	31472725	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.G2038C:p.E680Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.G2038C:p.E680Q;	0.999844522854346	0.984
18	29052688	G	T	18	31472725	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon14:c.G2038T:p.E680X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon14:c.G2038T:p.E680X;	0.999951695990331	0.99
18	29052689	A	C	18	31472726	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.A2039C:p.E680A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.A2039C:p.E680A;	0.0133282097571756	0.114
18	29052689	A	G	18	31472726	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.A2039G:p.E680G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.A2039G:p.E680G;	0.952631465388566	0.598
18	29052689	A	T	18	31472726	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.A2039T:p.E680V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.A2039T:p.E680V;	0.00134182170848292	0.046
18	29052749	C	A	18	31472786	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.C2099A:p.S700Y;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.C2099A:p.S700Y;	0.949610382594859	0.826
18	29052749	C	G	18	31472786	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.C2099G:p.S700C;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.C2099G:p.S700C;	0.910595334012347	0.608
18	29052749	C	T	18	31472786	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.C2099T:p.S700F;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.C2099T:p.S700F;	0.997053564296448	0.668
18	29052750	T	A	18	31472787	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon14:c.T2100A:p.S700S;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.T2100A:p.S700S;	0.092903197321044	0.364
18	29052750	T	C	18	31472787	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon14:c.T2100C:p.S700S;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.T2100C:p.S700S;	0.482147413771527	0.532
18	29052750	T	G	18	31472787	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon14:c.T2100G:p.S700S;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.T2100G:p.S700S;	0.500341169319577	0.588
18	29052751	G	A	18	31472788	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.G2101A:p.E701K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.G2101A:p.E701K;	0.999933592492626	0.968
18	29052751	G	C	18	31472788	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon14:c.G2101C:p.E701Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon14:c.G2101C:p.E701Q;	0.99992377561287	0.978
18	29052751	G	T	18	31472788	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon14:c.G2101T:p.E701X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon14:c.G2101T:p.E701X;	0.999963453184844	0.968
18	29052752	G	A	18	31472789	y	y	splicing	DSG3(NM_001944:exon14:c.2101+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2101+1G>A)	.	.	0.999989072007339	0.934
18	29052752	G	C	18	31472789	y	y	splicing	DSG3(NM_001944:exon14:c.2101+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2101+1G>C)	.	.	0.999989072007339	0.934
18	29052752	G	T	18	31472789	y	y	splicing	DSG3(NM_001944:exon14:c.2101+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2101+1G>T)	.	.	0.999989072007339	0.934
18	29052753	T	A	18	31472790	y	y	splicing	DSG3(NM_001944:exon14:c.2101+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2101+2T>A)	.	.	0.999988247793601	0.93
18	29052753	T	C	18	31472790	y	y	splicing	DSG3(NM_001944:exon14:c.2101+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2101+2T>C)	.	.	0.997082385503644	0.688
18	29052753	T	G	18	31472790	y	y	splicing	DSG3(NM_001944:exon14:c.2101+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon14:c.2101+2T>G)	.	.	0.999988247793601	0.93
18	29052754	A	C	18	31472791	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.99097890789803	0.84
18	29052754	A	G	18	31472791	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.004990750002786	0.278
18	29052754	A	T	18	31472791	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.995141166986362	0.802
18	29052755	A	C	18	31472792	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.947599596629967	0.572
18	29052755	A	G	18	31472792	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.986354932648303	0.662
18	29052755	A	T	18	31472792	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.977713100143817	0.704
18	29052756	G	A	18	31472793	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999852459783077	0.93
18	29052756	G	C	18	31472793	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999869189660893	0.85
18	29052756	G	T	18	31472793	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999591093672867	0.892
18	29052757	T	A	18	31472794	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.113713439002195	0.42
18	29052757	T	C	18	31472794	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.118054696934194	0.456
18	29052757	T	G	18	31472794	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.170627882194664	0.278
18	29052758	G	A	18	31472795	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.84107209686333E-4	0.012
18	29052758	G	C	18	31472795	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.28579615503235E-4	0.006
18	29052758	G	T	18	31472795	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.25679263643157E-4	0.002
18	29052759	G	A	18	31472796	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.66835038942415E-4	0.022
18	29052759	G	C	18	31472796	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.6963943194065E-4	0.024
18	29052759	G	T	18	31472796	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.6963943194065E-4	0.026
18	29054072	C	A	18	31474109	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.19727003104158E-4	0.048
18	29054072	C	G	18	31474109	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.08967511977183E-4	0.042
18	29054072	C	T	18	31474109	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.22199175002826E-5	0.006
18	29054073	C	A	18	31474110	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0091968588008706	0.212
18	29054073	C	G	18	31474110	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0031754459061438	0.14
18	29054073	C	T	18	31474110	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	6.69409692829036E-4	0.03
18	29054074	T	A	18	31474111	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.21313449364375E-4	0.072
18	29054074	T	C	18	31474111	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.09817414469087E-5	0.0
18	29054074	T	G	18	31474111	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	3.03809299753175E-4	0.108
18	29054075	T	A	18	31474112	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.99992248462452	0.976
18	29054075	T	C	18	31474112	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.96354480743815E-5	0.002
18	29054075	T	G	18	31474112	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.001718580290797	0.112
18	29054076	G	A	18	31474113	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.39542044597199E-4	0.008
18	29054076	G	C	18	31474113	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.17414383410633E-4	0.018
18	29054076	G	T	18	31474113	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.86475153979444E-5	0.006
18	29054077	T	A	18	31474114	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00106908645532259	0.088
18	29054077	T	C	18	31474114	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.73197940309131E-4	0.004
18	29054077	T	G	18	31474114	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0011640415743222	0.098
18	29054078	T	A	18	31474115	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0241002502644905	0.184
18	29054078	T	C	18	31474115	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.34104139322896E-4	0.002
18	29054078	T	G	18	31474115	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0193428477105302	0.166
18	29054079	T	A	18	31474116	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.865038164761646	0.562
18	29054079	T	C	18	31474116	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00338777044163649	0.042
18	29054079	T	G	18	31474116	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.957689495200373	0.578
18	29054080	T	A	18	31474117	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.05870031723021E-5	0.004
18	29054080	T	C	18	31474117	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.08792178971659E-5	0.002
18	29054080	T	G	18	31474117	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	8.29528707139016E-5	0.002
18	29054081	T	A	18	31474118	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00562592141843276	0.182
18	29054081	T	C	18	31474118	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.98921306886645E-5	0.004
18	29054081	T	G	18	31474118	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.896979302674971	0.658
18	29054082	A	C	18	31474119	y	y	splicing	DSG3(NM_001944:exon15:c.2102-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2102-2A>C)	.	.	0.999964896440643	0.938
18	29054082	A	G	18	31474119	y	y	splicing	DSG3(NM_001944:exon15:c.2102-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2102-2A>G)	.	.	0.999964896440643	0.938
18	29054082	A	T	18	31474119	y	y	splicing	DSG3(NM_001944:exon15:c.2102-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2102-2A>T)	.	.	0.999946188727699	0.932
18	29054083	G	A	18	31474120	y	y	splicing	DSG3(NM_001944:exon15:c.2102-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2102-1G>A)	.	.	0.99995586615188	0.94
18	29054083	G	C	18	31474120	y	y	splicing	DSG3(NM_001944:exon15:c.2102-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2102-1G>C)	.	.	0.999971209564868	0.938
18	29054083	G	T	18	31474120	y	y	splicing	DSG3(NM_001944:exon15:c.2102-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2102-1G>T)	.	.	0.99995586615188	0.94
18	29054084	A	C	18	31474121	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.A2102C:p.E701A;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2102C:p.E701A;	0.0103644229872934	0.092
18	29054084	A	G	18	31474121	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.A2102G:p.E701G;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2102G:p.E701G;	6.7029526116368E-4	0.028
18	29054084	A	T	18	31474121	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.A2102T:p.E701V;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2102T:p.E701V;	0.026203873437035	0.214
18	29054085	A	C	18	31474122	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.A2103C:p.E701D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2103C:p.E701D;	4.91401003369361E-5	0.0
18	29054085	A	G	18	31474122	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon15:c.A2103G:p.E701E;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2103G:p.E701E;	2.10885614316135E-5	0.008
18	29054085	A	T	18	31474122	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.A2103T:p.E701D;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2103T:p.E701D;	2.56099537241133E-5	0.0
18	29054365	C	A	18	31474402	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.C2383A:p.Q795K;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.C2383A:p.Q795K;	0.933383939924445	0.822
18	29054365	C	G	18	31474402	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.C2383G:p.Q795E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.C2383G:p.Q795E;	0.00428721283904337	0.148
18	29054365	C	T	18	31474402	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon15:c.C2383T:p.Q795X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon15:c.C2383T:p.Q795X;	0.999750786313352	0.928
18	29054366	A	C	18	31474403	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.A2384C:p.Q795P;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2384C:p.Q795P;	0.999118538878878	0.938
18	29054366	A	G	18	31474403	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.A2384G:p.Q795R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2384G:p.Q795R;	0.999077113741147	0.924
18	29054366	A	T	18	31474403	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.A2384T:p.Q795L;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.A2384T:p.Q795L;	0.999480166585955	0.948
18	29054367	G	A	18	31474404	y	y	exonic	DSG3	synonymous SNV	DSG3:NM_001944:exon15:c.G2385A:p.Q795Q;	exonic	ENSG00000134757	synonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.G2385A:p.Q795Q;	0.999849320274418	0.992
18	29054367	G	C	18	31474404	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.G2385C:p.Q795H;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.G2385C:p.Q795H;	0.999994480955811	1.0
18	29054367	G	T	18	31474404	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon15:c.G2385T:p.Q795H;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon15:c.G2385T:p.Q795H;	0.999982567725171	0.988
18	29054368	G	A	18	31474405	y	y	splicing	DSG3(NM_001944:exon15:c.2385+1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2385+1G>A)	.	.	0.999990361384395	0.938
18	29054368	G	C	18	31474405	y	y	splicing	DSG3(NM_001944:exon15:c.2385+1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2385+1G>C)	.	.	0.999990361384395	0.938
18	29054368	G	T	18	31474405	y	y	splicing	DSG3(NM_001944:exon15:c.2385+1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2385+1G>T)	.	.	0.999990361384395	0.938
18	29054369	T	A	18	31474406	y	y	splicing	DSG3(NM_001944:exon15:c.2385+2T>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2385+2T>A)	.	.	0.999988247793601	0.93
18	29054369	T	C	18	31474406	y	y	splicing	DSG3(NM_001944:exon15:c.2385+2T>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2385+2T>C)	.	.	0.99231226973403	0.69
18	29054369	T	G	18	31474406	y	y	splicing	DSG3(NM_001944:exon15:c.2385+2T>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon15:c.2385+2T>G)	.	.	0.999988247793601	0.928
18	29054370	A	C	18	31474407	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999632187387292	0.946
18	29054370	A	G	18	31474407	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.995753045881995	0.926
18	29054370	A	T	18	31474407	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999344157338528	0.976
18	29054371	A	C	18	31474408	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.948531339374292	0.756
18	29054371	A	G	18	31474408	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.933417158399004	0.792
18	29054371	A	T	18	31474408	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.910135757295805	0.698
18	29054372	T	A	18	31474409	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.16293185003352E-4	0.004
18	29054372	T	C	18	31474409	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.59745401643696E-5	0.002
18	29054372	T	G	18	31474409	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.41572758332366E-4	0.008
18	29054373	T	A	18	31474410	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0109856227891619	0.286
18	29054373	T	C	18	31474410	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0861692691608005	0.378
18	29054373	T	G	18	31474410	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00180096874955064	0.27
18	29054374	T	A	18	31474411	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.71969829356169E-4	0.012
18	29054374	T	C	18	31474411	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.01583030931165E-4	0.018
18	29054374	T	G	18	31474411	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.26473499995288E-4	0.004
18	29054375	G	A	18	31474412	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.34619532534421E-5	0.0
18	29054375	G	C	18	31474412	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.13856171646098E-5	0.0
18	29054375	G	T	18	31474412	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.34619532534421E-5	0.0
18	29055597	T	A	18	31475634	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00279126172263487	0.168
18	29055597	T	C	18	31475634	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.37280960979312E-4	0.044
18	29055597	T	G	18	31475634	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00226577473022558	0.192
18	29055598	C	A	18	31475635	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.61386169939468E-4	0.08
18	29055598	C	G	18	31475635	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.95601636385175E-5	0.018
18	29055598	C	T	18	31475635	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.55447016955389E-5	0.0
18	29055599	T	A	18	31475636	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0181885444137162	0.23
18	29055599	T	C	18	31475636	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.21344800969571E-4	0.02
18	29055599	T	G	18	31475636	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0144691602721189	0.272
18	29055600	C	A	18	31475637	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00489238100086372	0.194
18	29055600	C	G	18	31475637	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00259361284686719	0.086
18	29055600	C	T	18	31475637	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.71893345848399E-5	0.008
18	29055601	T	A	18	31475638	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.999700577841041	0.998
18	29055601	T	C	18	31475638	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	7.98828850443303E-5	0.0
18	29055601	T	G	18	31475638	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.56529601032767E-4	0.024
18	29055602	G	A	18	31475639	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	4.7306635034067E-5	0.002
18	29055602	G	C	18	31475639	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.3787200019972E-5	0.002
18	29055602	G	T	18	31475639	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.17434416572046E-5	0.008
18	29055603	T	A	18	31475640	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0192409048659268	0.152
18	29055603	T	C	18	31475640	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	1.68789739612535E-4	0.006
18	29055603	T	G	18	31475640	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0324982434706543	0.214
18	29055604	C	A	18	31475641	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00412301911085159	0.206
18	29055604	C	G	18	31475641	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0034631391901793	0.19
18	29055604	C	T	18	31475641	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	5.30836947145286E-4	0.044
18	29055605	T	A	18	31475642	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00508798423536491	0.06
18	29055605	T	C	18	31475642	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00203508012840776	0.006
18	29055605	T	G	18	31475642	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.00337469242142826	0.014
18	29055606	T	A	18	31475643	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.0364908971992018	0.266
18	29055606	T	C	18	31475643	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	2.29154793816562E-5	0.002
18	29055606	T	G	18	31475643	y	y	intronic	DSG3	.	.	intronic	ENSG00000134757	.	.	0.92564934096932	0.694
18	29055607	A	C	18	31475644	y	y	splicing	DSG3(NM_001944:exon16:c.2386-2A>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon16:c.2386-2A>C)	.	.	0.999988247793601	0.928
18	29055607	A	G	18	31475644	y	y	splicing	DSG3(NM_001944:exon16:c.2386-2A>G)	.	.	splicing	ENSG00000134757(ENST00000257189:exon16:c.2386-2A>G)	.	.	0.999988247793601	0.928
18	29055607	A	T	18	31475644	y	y	splicing	DSG3(NM_001944:exon16:c.2386-2A>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon16:c.2386-2A>T)	.	.	0.999988247793601	0.928
18	29055608	G	A	18	31475645	y	y	splicing	DSG3(NM_001944:exon16:c.2386-1G>A)	.	.	splicing	ENSG00000134757(ENST00000257189:exon16:c.2386-1G>A)	.	.	0.999990361384395	0.936
18	29055608	G	C	18	31475645	y	y	splicing	DSG3(NM_001944:exon16:c.2386-1G>C)	.	.	splicing	ENSG00000134757(ENST00000257189:exon16:c.2386-1G>C)	.	.	0.999990361384395	0.936
18	29055608	G	T	18	31475645	y	y	splicing	DSG3(NM_001944:exon16:c.2386-1G>T)	.	.	splicing	ENSG00000134757(ENST00000257189:exon16:c.2386-1G>T)	.	.	0.999990361384395	0.936
18	29055609	A	C	18	31475646	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon16:c.A2386C:p.K796Q;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon16:c.A2386C:p.K796Q;	0.365648892353134	0.716
18	29055609	A	G	18	31475646	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon16:c.A2386G:p.K796E;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon16:c.A2386G:p.K796E;	0.703762740098049	0.682
18	29055609	A	T	18	31475646	y	y	exonic	DSG3	stopgain SNV	DSG3:NM_001944:exon16:c.A2386T:p.K796X;	exonic	ENSG00000134757	stopgain SNV	ENSG00000134757:ENST00000257189:exon16:c.A2386T:p.K796X;	0.421729126851467	0.644
18	29055610	A	C	18	31475647	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon16:c.A2387C:p.K796T;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon16:c.A2387C:p.K796T;	0.892064254155854	0.868
18	29055610	A	G	18	31475647	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon16:c.A2387G:p.K796R;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon16:c.A2387G:p.K796R;	0.899280244247112	0.736
18	29055610	A	T	18	31475647	y	y	exonic	DSG3	nonsynonymous SNV	DSG3:NM_001944:exon16:c.A2387T:p.K796I;	exonic	ENSG00000134757	nonsynonymous SNV	ENSG00000134757:ENST00000257189:exon16:c.A2387T:p.K796I;	0.848713802235778	0.806
18	29078257	C	A	18	31498294	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon1:c.C43A:p.L15M;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.C43A:p.L15M;ENSG00000046604:ENST00000261590:exon1:c.C43A:p.L15M;	0.00581524601111547	0.15
18	29078257	C	G	18	31498294	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon1:c.C43G:p.L15V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.C43G:p.L15V;ENSG00000046604:ENST00000261590:exon1:c.C43G:p.L15V;	0.00180135326703551	0.098
18	29078257	C	T	18	31498294	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon1:c.C43T:p.L15L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.C43T:p.L15L;ENSG00000046604:ENST00000261590:exon1:c.C43T:p.L15L;	0.0962989670315709	0.146
18	29078258	T	A	18	31498295	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon1:c.T44A:p.L15Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.T44A:p.L15Q;ENSG00000046604:ENST00000261590:exon1:c.T44A:p.L15Q;	0.00127493865232545	0.12
18	29078258	T	C	18	31498295	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon1:c.T44C:p.L15P;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.T44C:p.L15P;ENSG00000046604:ENST00000261590:exon1:c.T44C:p.L15P;	0.00750727536519351	0.082
18	29078258	T	G	18	31498295	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon1:c.T44G:p.L15R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.T44G:p.L15R;ENSG00000046604:ENST00000261590:exon1:c.T44G:p.L15R;	0.0102154631959174	0.138
18	29078259	G	A	18	31498296	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon1:c.G45A:p.L15L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.G45A:p.L15L;ENSG00000046604:ENST00000261590:exon1:c.G45A:p.L15L;	0.567305645623349	0.526
18	29078259	G	C	18	31498296	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon1:c.G45C:p.L15L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.G45C:p.L15L;ENSG00000046604:ENST00000261590:exon1:c.G45C:p.L15L;	0.969661765659715	0.804
18	29078259	G	T	18	31498296	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon1:c.G45T:p.L15L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon1:c.G45T:p.L15L;ENSG00000046604:ENST00000261590:exon1:c.G45T:p.L15L;	0.879185119423929	0.84
18	29078260	G	A	18	31498297	y	y	splicing	DSG2(NM_001943:exon1:c.45+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon1:c.45+1G>A;ENST00000585206:exon1:c.45+1G>A)	.	.	0.999967305459904	0.93
18	29078260	G	C	18	31498297	y	y	splicing	DSG2(NM_001943:exon1:c.45+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon1:c.45+1G>C;ENST00000585206:exon1:c.45+1G>C)	.	.	0.99998254518941	0.934
18	29078260	G	T	18	31498297	y	y	splicing	DSG2(NM_001943:exon1:c.45+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon1:c.45+1G>T;ENST00000585206:exon1:c.45+1G>T)	.	.	0.999967305459904	0.938
18	29078261	T	A	18	31498298	y	y	splicing	DSG2(NM_001943:exon1:c.45+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon1:c.45+2T>A;ENST00000585206:exon1:c.45+2T>A)	.	.	0.999982042599715	0.898
18	29078261	T	C	18	31498298	y	y	splicing	DSG2(NM_001943:exon1:c.45+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon1:c.45+2T>C;ENST00000585206:exon1:c.45+2T>C)	.	.	0.967374491770583	0.522
18	29078261	T	G	18	31498298	y	y	splicing	DSG2(NM_001943:exon1:c.45+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon1:c.45+2T>G;ENST00000585206:exon1:c.45+2T>G)	.	.	0.999972705100963	0.87
18	29078262	A	C	18	31498299	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.688144546050278	0.4
18	29078262	A	G	18	31498299	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00153473262718662	0.018
18	29078262	A	T	18	31498299	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.384018742950178	0.39
18	29078263	A	C	18	31498300	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.618448578978374	0.5
18	29078263	A	G	18	31498300	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.88811305751577	0.582
18	29078263	A	T	18	31498300	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.863259488342419	0.556
18	29078264	G	A	18	31498301	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999231069605696	0.878
18	29078264	G	C	18	31498301	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997885853398724	0.826
18	29078264	G	T	18	31498301	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.998828571060443	0.892
18	29078265	T	A	18	31498302	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.23007662365567	0.316
18	29078265	T	C	18	31498302	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.442994540061968	0.382
18	29078265	T	G	18	31498302	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.123072609531382	0.238
18	29078266	G	A	18	31498303	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.72495466333687E-5	0.002
18	29078266	G	C	18	31498303	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.13929258963682E-5	0.0
18	29078266	G	T	18	31498303	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.29764876337448E-5	0.004
18	29078267	C	A	18	31498304	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.76543086121941E-5	0.0
18	29078267	C	G	18	31498304	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.76543086121941E-5	0.002
18	29078267	C	T	18	31498304	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	8.83563314959328E-5	0.002
18	29098190	T	A	18	31518227	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.992210862833619	0.754
18	29098190	T	C	18	31518227	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.145704043153008	0.284
18	29098190	T	G	18	31518227	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.986542403926705	0.726
18	29098191	T	A	18	31518228	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.981556755549465	0.726
18	29098191	T	C	18	31518228	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0212713224431886	0.162
18	29098191	T	G	18	31518228	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.834083988506675	0.576
18	29098192	T	A	18	31518229	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.816257928327151	0.6
18	29098192	T	C	18	31518229	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.33279638144059E-4	0.072
18	29098192	T	G	18	31518229	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.715520103079752	0.58
18	29098193	A	C	18	31518230	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.55442244408597E-5	0.086
18	29098193	A	G	18	31518230	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.75505490623001E-5	0.052
18	29098193	A	T	18	31518230	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.39025212097251E-5	0.054
18	29098194	T	A	18	31518231	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.662505955887032	0.472
18	29098194	T	C	18	31518231	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0030745889733891	0.058
18	29098194	T	G	18	31518231	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999901700571703	0.94
18	29098195	T	A	18	31518232	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.105271875808716	0.264
18	29098195	T	C	18	31518232	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.52221525392612E-4	0.0
18	29098195	T	G	18	31518232	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0546609484650479	0.206
18	29098196	T	A	18	31518233	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.638321168765916	0.756
18	29098196	T	C	18	31518233	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.79339090691985E-4	0.028
18	29098196	T	G	18	31518233	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.80301032731861	0.752
18	29098197	T	A	18	31518234	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.930639871425369	0.696
18	29098197	T	C	18	31518234	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00852129994258703	0.104
18	29098197	T	G	18	31518234	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.948155696353789	0.672
18	29098198	A	C	18	31518235	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.07331374340465E-4	0.0
18	29098198	A	G	18	31518235	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.5112260217663E-4	0.008
18	29098198	A	T	18	31518235	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.61947674720782E-4	0.048
18	29098199	C	A	18	31518236	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.895352702210101	0.628
18	29098199	C	G	18	31518236	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999802429242083	0.942
18	29098199	C	T	18	31518236	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00299639363452304	0.088
18	29098200	A	C	18	31518237	y	y	splicing	DSG2(NM_001943:exon2:c.46-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.46-2A>C;ENST00000585206:exon2:c.46-2A>C)	.	.	0.999989917668626	0.924
18	29098200	A	G	18	31518237	y	y	splicing	DSG2(NM_001943:exon2:c.46-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.46-2A>G;ENST00000585206:exon2:c.46-2A>G)	.	.	0.999989917668626	0.912
18	29098200	A	T	18	31518237	y	y	splicing	DSG2(NM_001943:exon2:c.46-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.46-2A>T;ENST00000585206:exon2:c.46-2A>T)	.	.	0.999989917668626	0.926
18	29098201	G	A	18	31518238	y	y	splicing	DSG2(NM_001943:exon2:c.46-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.46-1G>A;ENST00000585206:exon2:c.46-1G>A)	.	.	0.999986675681007	0.926
18	29098201	G	C	18	31518238	y	y	splicing	DSG2(NM_001943:exon2:c.46-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.46-1G>C;ENST00000585206:exon2:c.46-1G>C)	.	.	0.999986675681007	0.926
18	29098201	G	T	18	31518238	y	y	splicing	DSG2(NM_001943:exon2:c.46-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.46-1G>T;ENST00000585206:exon2:c.46-1G>T)	.	.	0.999986675681007	0.926
18	29098202	A	C	18	31518239	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.A46C:p.I16L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.A46C:p.I16L;ENSG00000046604:ENST00000261590:exon2:c.A46C:p.I16L;	3.25038130708989E-4	0.04
18	29098202	A	G	18	31518239	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.A46G:p.I16V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.A46G:p.I16V;ENSG00000046604:ENST00000261590:exon2:c.A46G:p.I16V;	1.18942655301033E-4	0.0
18	29098202	A	T	18	31518239	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.A46T:p.I16F;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.A46T:p.I16F;ENSG00000046604:ENST00000261590:exon2:c.A46T:p.I16F;	3.68611142692283E-4	0.026
18	29098203	T	A	18	31518240	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.T47A:p.I16N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.T47A:p.I16N;ENSG00000046604:ENST00000261590:exon2:c.T47A:p.I16N;	0.00304729003962757	0.046
18	29098203	T	C	18	31518240	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.T47C:p.I16T;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.T47C:p.I16T;ENSG00000046604:ENST00000261590:exon2:c.T47C:p.I16T;	0.00301831411816152	0.05
18	29098203	T	G	18	31518240	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.T47G:p.I16S;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.T47G:p.I16S;ENSG00000046604:ENST00000261590:exon2:c.T47G:p.I16S;	0.00254575974438386	0.08
18	29098235	C	A	18	31518272	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.C79A:p.Q27K;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.C79A:p.Q27K;ENSG00000046604:ENST00000261590:exon2:c.C79A:p.Q27K;	6.16270339487831E-5	0.068
18	29098235	C	G	18	31518272	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.C79G:p.Q27E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.C79G:p.Q27E;ENSG00000046604:ENST00000261590:exon2:c.C79G:p.Q27E;	2.5834559700901E-4	0.226
18	29098235	C	T	18	31518272	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon2:c.C79T:p.Q27X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000585206:exon2:c.C79T:p.Q27X;ENSG00000046604:ENST00000261590:exon2:c.C79T:p.Q27X;	0.0621526967271038	0.296
18	29098236	A	C	18	31518273	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.A80C:p.Q27P;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.A80C:p.Q27P;ENSG00000046604:ENST00000261590:exon2:c.A80C:p.Q27P;	0.209959760565426	0.446
18	29098236	A	G	18	31518273	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.A80G:p.Q27R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.A80G:p.Q27R;ENSG00000046604:ENST00000261590:exon2:c.A80G:p.Q27R;	0.235599603808025	0.45
18	29098236	A	T	18	31518273	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.A80T:p.Q27L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.A80T:p.Q27L;ENSG00000046604:ENST00000261590:exon2:c.A80T:p.Q27L;	0.268826806181735	0.462
18	29098237	G	A	18	31518274	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon2:c.G81A:p.Q27Q;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.G81A:p.Q27Q;ENSG00000046604:ENST00000261590:exon2:c.G81A:p.Q27Q;	0.99935878469184	0.952
18	29098237	G	C	18	31518274	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.G81C:p.Q27H;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.G81C:p.Q27H;ENSG00000046604:ENST00000261590:exon2:c.G81C:p.Q27H;	0.999983101399172	0.914
18	29098237	G	T	18	31518274	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon2:c.G81T:p.Q27H;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon2:c.G81T:p.Q27H;ENSG00000046604:ENST00000261590:exon2:c.G81T:p.Q27H;	0.999646177656924	0.906
18	29098238	G	A	18	31518275	y	y	splicing	DSG2(NM_001943:exon2:c.81+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.81+1G>A;ENST00000585206:exon2:c.81+1G>A)	.	.	0.999965143305126	0.836
18	29098238	G	C	18	31518275	y	y	splicing	DSG2(NM_001943:exon2:c.81+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.81+1G>C;ENST00000585206:exon2:c.81+1G>C)	.	.	0.999958003653399	0.82
18	29098238	G	T	18	31518275	y	y	splicing	DSG2(NM_001943:exon2:c.81+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.81+1G>T;ENST00000585206:exon2:c.81+1G>T)	.	.	0.999958003653399	0.836
18	29098239	T	A	18	31518276	y	y	splicing	DSG2(NM_001943:exon2:c.81+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.81+2T>A;ENST00000585206:exon2:c.81+2T>A)	.	.	0.999969255906173	0.842
18	29098239	T	C	18	31518276	y	y	splicing	DSG2(NM_001943:exon2:c.81+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.81+2T>C;ENST00000585206:exon2:c.81+2T>C)	.	.	0.999133655811138	0.732
18	29098239	T	G	18	31518276	y	y	splicing	DSG2(NM_001943:exon2:c.81+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon2:c.81+2T>G;ENST00000585206:exon2:c.81+2T>G)	.	.	0.999962958601995	0.806
18	29098240	G	A	18	31518277	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.37230001931375E-6	0.0
18	29098240	G	C	18	31518277	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0985335146215233	0.296
18	29098240	G	T	18	31518277	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.135534530077118	0.33
18	29098241	A	C	18	31518278	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.426719246975117	0.438
18	29098241	A	G	18	31518278	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.862769097876682	0.544
18	29098241	A	T	18	31518278	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.825532331215571	0.448
18	29098242	G	A	18	31518279	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.950205158238775	0.684
18	29098242	G	C	18	31518279	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.908543325337602	0.53
18	29098242	G	T	18	31518279	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.998400771073688	0.706
18	29098243	G	A	18	31518280	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.89632869543861E-5	0.002
18	29098243	G	C	18	31518280	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.22575446155784E-5	0.006
18	29098243	G	T	18	31518280	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.1602764758226E-5	0.0
18	29098244	A	C	18	31518281	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.21762285763135E-5	0.02
18	29098244	A	G	18	31518281	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.35333245042442E-5	0.014
18	29098244	A	T	18	31518281	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.85650442126493E-5	0.024
18	29098245	A	C	18	31518282	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.15941453541388E-5	0.0
18	29098245	A	G	18	31518282	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.73659410988803E-5	0.0
18	29098245	A	T	18	31518282	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.73659410988803E-5	0.0
18	29099754	C	A	18	31519791	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.44989409589168E-5	0.044
18	29099754	C	G	18	31519791	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	8.74486973431087E-5	0.044
18	29099754	C	T	18	31519791	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.29145462888595E-6	0.002
18	29099755	T	A	18	31519792	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.272144337080887	0.48
18	29099755	T	C	18	31519792	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.35074678275294E-4	0.098
18	29099755	T	G	18	31519792	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.307595012211758	0.418
18	29099756	A	C	18	31519793	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.98870818435116E-5	0.0
18	29099756	A	G	18	31519793	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.67605915489246E-5	0.0
18	29099756	A	T	18	31519793	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.68699633867424E-5	0.0
18	29099757	T	A	18	31519794	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0146153694908859	0.182
18	29099757	T	C	18	31519794	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.6623787047277E-5	0.002
18	29099757	T	G	18	31519794	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.99983587934777	0.978
18	29099758	T	A	18	31519795	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999884945662318	0.988
18	29099758	T	C	18	31519795	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.79013650513386E-5	0.0
18	29099758	T	G	18	31519795	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0136816590813244	0.204
18	29099759	G	A	18	31519796	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.15269714868279E-5	0.002
18	29099759	G	C	18	31519796	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.46489065387277E-5	0.0
18	29099759	G	T	18	31519796	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.59251384534074E-5	0.0
18	29099760	T	A	18	31519797	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.11074168351416	0.324
18	29099760	T	C	18	31519797	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.82570693357762E-5	0.004
18	29099760	T	G	18	31519797	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.13336636500723	0.366
18	29099761	T	A	18	31519798	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.615184763789007	0.412
18	29099761	T	C	18	31519798	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.92678938287569E-4	0.008
18	29099761	T	G	18	31519798	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.542831027378087	0.454
18	29099762	A	C	18	31519799	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.03178717793245E-5	0.002
18	29099762	A	G	18	31519799	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.87544548170259E-5	0.0
18	29099762	A	T	18	31519799	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.95161408001156E-5	0.0
18	29099763	T	A	18	31519800	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00773744442225057	0.174
18	29099763	T	C	18	31519800	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.22885327635742E-4	0.054
18	29099763	T	G	18	31519800	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.996608524553951	0.686
18	29099764	A	C	18	31519801	y	y	splicing	DSG2(NM_001943:exon3:c.82-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.82-2A>C;ENST00000585206:exon3:c.82-2A>C)	.	.	0.999978156327223	0.934
18	29099764	A	G	18	31519801	y	y	splicing	DSG2(NM_001943:exon3:c.82-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.82-2A>G;ENST00000585206:exon3:c.82-2A>G)	.	.	0.999978156327223	0.934
18	29099764	A	T	18	31519801	y	y	splicing	DSG2(NM_001943:exon3:c.82-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.82-2A>T;ENST00000585206:exon3:c.82-2A>T)	.	.	0.999966514958823	0.936
18	29099765	G	A	18	31519802	y	y	splicing	DSG2(NM_001943:exon3:c.82-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.82-1G>A;ENST00000585206:exon3:c.82-1G>A)	.	.	0.999938990645747	0.94
18	29099765	G	C	18	31519802	y	y	splicing	DSG2(NM_001943:exon3:c.82-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.82-1G>C;ENST00000585206:exon3:c.82-1G>C)	.	.	0.999960200702261	0.946
18	29099765	G	T	18	31519802	y	y	splicing	DSG2(NM_001943:exon3:c.82-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.82-1G>T;ENST00000585206:exon3:c.82-1G>T)	.	.	0.999938990645747	0.948
18	29099766	G	A	18	31519803	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.G82A:p.V28I;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.G82A:p.V28I;ENSG00000046604:ENST00000261590:exon3:c.G82A:p.V28I;	0.00168733029863523	0.108
18	29099766	G	C	18	31519803	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.G82C:p.V28L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.G82C:p.V28L;ENSG00000046604:ENST00000261590:exon3:c.G82C:p.V28L;	0.0216666445782825	0.312
18	29099766	G	T	18	31519803	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.G82T:p.V28F;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.G82T:p.V28F;ENSG00000046604:ENST00000261590:exon3:c.G82T:p.V28F;	0.405880506543044	0.386
18	29099767	T	A	18	31519804	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.T83A:p.V28D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.T83A:p.V28D;ENSG00000046604:ENST00000261590:exon3:c.T83A:p.V28D;	2.55223412587209E-4	0.022
18	29099767	T	C	18	31519804	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.T83C:p.V28A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.T83C:p.V28A;ENSG00000046604:ENST00000261590:exon3:c.T83C:p.V28A;	3.75911298330454E-4	0.018
18	29099767	T	G	18	31519804	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.T83G:p.V28G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.T83G:p.V28G;ENSG00000046604:ENST00000261590:exon3:c.T83G:p.V28G;	2.81366368133107E-4	0.0
18	29099898	A	C	18	31519935	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.A214C:p.K72Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.A214C:p.K72Q;ENSG00000046604:ENST00000261590:exon3:c.A214C:p.K72Q;	8.7730526555952E-4	0.008
18	29099898	A	G	18	31519935	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.A214G:p.K72E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.A214G:p.K72E;ENSG00000046604:ENST00000261590:exon3:c.A214G:p.K72E;	8.83903611588461E-4	0.006
18	29099898	A	T	18	31519935	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon3:c.A214T:p.K72X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000585206:exon3:c.A214T:p.K72X;ENSG00000046604:ENST00000261590:exon3:c.A214T:p.K72X;	0.930381918778906	0.698
18	29099899	A	C	18	31519936	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.A215C:p.K72T;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.A215C:p.K72T;ENSG00000046604:ENST00000261590:exon3:c.A215C:p.K72T;	0.940683774316434	0.644
18	29099899	A	G	18	31519936	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.A215G:p.K72R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.A215G:p.K72R;ENSG00000046604:ENST00000261590:exon3:c.A215G:p.K72R;	0.994609644028859	0.828
18	29099899	A	T	18	31519936	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.A215T:p.K72M;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.A215T:p.K72M;ENSG00000046604:ENST00000261590:exon3:c.A215T:p.K72M;	0.987279981553957	0.764
18	29099900	G	A	18	31519937	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon3:c.G216A:p.K72K;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.G216A:p.K72K;ENSG00000046604:ENST00000261590:exon3:c.G216A:p.K72K;	0.999971542749051	0.99
18	29099900	G	C	18	31519937	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.G216C:p.K72N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.G216C:p.K72N;ENSG00000046604:ENST00000261590:exon3:c.G216C:p.K72N;	0.999994970252293	0.94
18	29099900	G	T	18	31519937	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon3:c.G216T:p.K72N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon3:c.G216T:p.K72N;ENSG00000046604:ENST00000261590:exon3:c.G216T:p.K72N;	0.999528304720785	0.972
18	29099901	G	A	18	31519938	y	y	splicing	DSG2(NM_001943:exon3:c.216+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.216+1G>A;ENST00000585206:exon3:c.216+1G>A)	.	.	0.999986675681007	0.92
18	29099901	G	C	18	31519938	y	y	splicing	DSG2(NM_001943:exon3:c.216+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.216+1G>C;ENST00000585206:exon3:c.216+1G>C)	.	.	0.999986675681007	0.932
18	29099901	G	T	18	31519938	y	y	splicing	DSG2(NM_001943:exon3:c.216+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.216+1G>T;ENST00000585206:exon3:c.216+1G>T)	.	.	0.999986675681007	0.932
18	29099902	T	A	18	31519939	y	y	splicing	DSG2(NM_001943:exon3:c.216+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.216+2T>A;ENST00000585206:exon3:c.216+2T>A)	.	.	0.999988247793601	0.924
18	29099902	T	C	18	31519939	y	y	splicing	DSG2(NM_001943:exon3:c.216+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.216+2T>C;ENST00000585206:exon3:c.216+2T>C)	.	.	0.98322925333772	0.6
18	29099902	T	G	18	31519939	y	y	splicing	DSG2(NM_001943:exon3:c.216+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon3:c.216+2T>G;ENST00000585206:exon3:c.216+2T>G)	.	.	0.999978952611685	0.926
18	29099903	A	C	18	31519940	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999779348734944	0.93
18	29099903	A	G	18	31519940	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.909556770804656	0.642
18	29099903	A	T	18	31519940	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.9997529904826	0.886
18	29099904	C	A	18	31519941	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.12309099568851E-5	0.016
18	29099904	C	G	18	31519941	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.38300455109241E-4	0.104
18	29099904	C	T	18	31519941	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.44139965245613E-4	0.04
18	29099905	C	A	18	31519942	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.87680187222317E-5	0.004
18	29099905	C	G	18	31519942	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.66844360337495E-5	0.012
18	29099905	C	T	18	31519942	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.81036206563969E-5	0.002
18	29099906	T	A	18	31519943	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	8.96756368680974E-4	0.222
18	29099906	T	C	18	31519943	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00216831219773434	0.314
18	29099906	T	G	18	31519943	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.58603141320793E-4	0.238
18	29099907	C	A	18	31519944	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.69791999527781E-5	0.0
18	29099907	C	G	18	31519944	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.11559850619248E-4	0.004
18	29099907	C	T	18	31519944	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.51813785728491E-5	0.004
18	29099908	C	A	18	31519945	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.07553965897311E-4	0.0
18	29099908	C	G	18	31519945	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.17861738393289E-4	0.006
18	29099908	C	T	18	31519945	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.24200242815801E-5	0.0
18	29100754	T	A	18	31520791	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0172199797507699	0.298
18	29100754	T	C	18	31520791	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.75114628961025E-4	0.032
18	29100754	T	G	18	31520791	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999967675555679	0.986
18	29100755	T	A	18	31520792	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.515869030006851	0.544
18	29100755	T	C	18	31520792	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00480914168222636	0.25
18	29100755	T	G	18	31520792	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0852228992181517	0.534
18	29100756	T	A	18	31520793	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.923992156081875	0.832
18	29100756	T	C	18	31520793	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0148209947593552	0.148
18	29100756	T	G	18	31520793	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.973656816495472	0.804
18	29100757	T	A	18	31520794	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0563008537697169	0.22
18	29100757	T	C	18	31520794	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.43703484262114E-4	0.032
18	29100757	T	G	18	31520794	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00646320365793337	0.228
18	29100758	T	A	18	31520795	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00888448563277068	0.146
18	29100758	T	C	18	31520795	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.00185123457184E-4	0.008
18	29100758	T	G	18	31520795	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0160939304842862	0.264
18	29100759	A	C	18	31520796	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.43099908483724E-5	0.006
18	29100759	A	G	18	31520796	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.07830520073835E-5	0.002
18	29100759	A	T	18	31520796	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.35176480286442E-5	0.0
18	29100760	T	A	18	31520797	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999965805231431	0.966
18	29100760	T	C	18	31520797	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00300638221175898	0.12
18	29100760	T	G	18	31520797	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999965805231431	0.966
18	29100761	G	A	18	31520798	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.49898817357633E-4	0.006
18	29100761	G	C	18	31520798	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.49179939559594E-4	0.008
18	29100761	G	T	18	31520798	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.97464135453095E-4	0.122
18	29100762	T	A	18	31520799	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.48324410766185E-5	0.002
18	29100762	T	C	18	31520799	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.83520891952186E-5	0.0
18	29100762	T	G	18	31520799	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.04414102117739E-4	0.0
18	29100763	T	A	18	31520800	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.584327239059999	0.604
18	29100763	T	C	18	31520800	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.6257816757079E-4	0.042
18	29100763	T	G	18	31520800	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997292802524428	0.712
18	29100764	A	C	18	31520801	y	y	splicing	DSG2(NM_001943:exon4:c.217-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.217-2A>C;ENST00000585206:exon4:c.217-2A>C)	.	.	0.999946188727699	0.944
18	29100764	A	G	18	31520801	y	y	splicing	DSG2(NM_001943:exon4:c.217-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.217-2A>G;ENST00000585206:exon4:c.217-2A>G)	.	.	0.999946188727699	0.944
18	29100764	A	T	18	31520801	y	y	splicing	DSG2(NM_001943:exon4:c.217-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.217-2A>T;ENST00000585206:exon4:c.217-2A>T)	.	.	0.999946188727699	0.946
18	29100765	G	A	18	31520802	y	y	splicing	DSG2(NM_001943:exon4:c.217-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.217-1G>A;ENST00000585206:exon4:c.217-1G>A)	.	.	0.99995545544995	0.948
18	29100765	G	C	18	31520802	y	y	splicing	DSG2(NM_001943:exon4:c.217-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.217-1G>C;ENST00000585206:exon4:c.217-1G>C)	.	.	0.99995586615188	0.948
18	29100765	G	T	18	31520802	y	y	splicing	DSG2(NM_001943:exon4:c.217-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.217-1G>T;ENST00000585206:exon4:c.217-1G>T)	.	.	0.99995586615188	0.936
18	29100766	A	C	18	31520803	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.A217C:p.I73L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.A217C:p.I73L;ENSG00000046604:ENST00000261590:exon4:c.A217C:p.I73L;	0.0165682404335491	0.156
18	29100766	A	G	18	31520803	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.A217G:p.I73V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.A217G:p.I73V;ENSG00000046604:ENST00000261590:exon4:c.A217G:p.I73V;	1.46479785143562E-4	0.004
18	29100766	A	T	18	31520803	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.A217T:p.I73L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.A217T:p.I73L;ENSG00000046604:ENST00000261590:exon4:c.A217T:p.I73L;	0.0114810373280742	0.21
18	29100767	T	A	18	31520804	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.T218A:p.I73K;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.T218A:p.I73K;ENSG00000046604:ENST00000261590:exon4:c.T218A:p.I73K;	0.162565152544429	0.278
18	29100767	T	C	18	31520804	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.T218C:p.I73T;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.T218C:p.I73T;ENSG00000046604:ENST00000261590:exon4:c.T218C:p.I73T;	0.0153778581227316	0.2
18	29100767	T	G	18	31520804	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.T218G:p.I73R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.T218G:p.I73R;ENSG00000046604:ENST00000261590:exon4:c.T218G:p.I73R;	0.0747688014603015	0.232
18	29100925	C	A	18	31520962	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.C376A:p.L126M;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.C376A:p.L126M;ENSG00000046604:ENST00000261590:exon4:c.C376A:p.L126M;	1.8642095477227E-4	0.066
18	29100925	C	G	18	31520962	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.C376G:p.L126V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.C376G:p.L126V;ENSG00000046604:ENST00000261590:exon4:c.C376G:p.L126V;	5.49424267607813E-4	0.034
18	29100925	C	T	18	31520962	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon4:c.C376T:p.L126L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.C376T:p.L126L;ENSG00000046604:ENST00000261590:exon4:c.C376T:p.L126L;	0.00151313554725223	0.056
18	29100926	T	A	18	31520963	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.T377A:p.L126Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.T377A:p.L126Q;ENSG00000046604:ENST00000261590:exon4:c.T377A:p.L126Q;	3.2434326842887E-4	0.12
18	29100926	T	C	18	31520963	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.T377C:p.L126P;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.T377C:p.L126P;ENSG00000046604:ENST00000261590:exon4:c.T377C:p.L126P;	0.00549812472737125	0.04
18	29100926	T	G	18	31520963	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon4:c.T377G:p.L126R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.T377G:p.L126R;ENSG00000046604:ENST00000261590:exon4:c.T377G:p.L126R;	0.00723911313919889	0.062
18	29100927	G	A	18	31520964	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon4:c.G378A:p.L126L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.G378A:p.L126L;ENSG00000046604:ENST00000261590:exon4:c.G378A:p.L126L;	0.999697994084675	0.986
18	29100927	G	C	18	31520964	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon4:c.G378C:p.L126L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.G378C:p.L126L;ENSG00000046604:ENST00000261590:exon4:c.G378C:p.L126L;	0.999826961813676	0.902
18	29100927	G	T	18	31520964	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon4:c.G378T:p.L126L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon4:c.G378T:p.L126L;ENSG00000046604:ENST00000261590:exon4:c.G378T:p.L126L;	0.997753290958206	0.934
18	29100928	G	A	18	31520965	y	y	splicing	DSG2(NM_001943:exon4:c.378+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.378+1G>A;ENST00000585206:exon4:c.378+1G>A)	.	.	0.999990361384395	0.938
18	29100928	G	C	18	31520965	y	y	splicing	DSG2(NM_001943:exon4:c.378+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.378+1G>C;ENST00000585206:exon4:c.378+1G>C)	.	.	0.999990361384395	0.938
18	29100928	G	T	18	31520965	y	y	splicing	DSG2(NM_001943:exon4:c.378+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.378+1G>T;ENST00000585206:exon4:c.378+1G>T)	.	.	0.999990361384395	0.938
18	29100929	T	A	18	31520966	y	y	splicing	DSG2(NM_001943:exon4:c.378+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.378+2T>A;ENST00000585206:exon4:c.378+2T>A)	.	.	0.999988247793601	0.93
18	29100929	T	C	18	31520966	y	y	splicing	DSG2(NM_001943:exon4:c.378+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.378+2T>C;ENST00000585206:exon4:c.378+2T>C)	.	.	0.99991522016916	0.892
18	29100929	T	G	18	31520966	y	y	splicing	DSG2(NM_001943:exon4:c.378+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon4:c.378+2T>G;ENST00000585206:exon4:c.378+2T>G)	.	.	0.999988247793601	0.93
18	29100930	A	C	18	31520967	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997133352803145	0.946
18	29100930	A	G	18	31520967	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.428103277880001	0.456
18	29100930	A	T	18	31520967	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999161789182527	0.894
18	29100931	A	C	18	31520968	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.99804863591183	0.916
18	29100931	A	G	18	31520968	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.996559740551018	0.92
18	29100931	A	T	18	31520968	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.993914503472648	0.884
18	29100932	G	A	18	31520969	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999920446254799	0.97
18	29100932	G	C	18	31520969	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.996316344670732	0.912
18	29100932	G	T	18	31520969	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999531756082879	0.906
18	29100933	A	C	18	31520970	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.13106302878845E-4	0.068
18	29100933	A	G	18	31520970	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.041195462516E-4	0.034
18	29100933	A	T	18	31520970	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.01761356509557E-5	0.004
18	29100934	A	C	18	31520971	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.27163650926202E-4	0.006
18	29100934	A	G	18	31520971	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.83800609506454E-4	0.004
18	29100934	A	T	18	31520971	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.47548664271742E-4	0.01
18	29100935	G	A	18	31520972	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.69439264402225E-5	0.0
18	29100935	G	C	18	31520972	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.64745399314608E-5	0.0
18	29100935	G	T	18	31520972	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.64745399314608E-5	0.0
18	29101050	T	A	18	31521087	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.970679960829448	0.726
18	29101050	T	C	18	31521087	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0109310601780255	0.226
18	29101050	T	G	18	31521087	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.968431941031971	0.714
18	29101051	C	A	18	31521088	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0217843737275817	0.196
18	29101051	C	G	18	31521088	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0125076937771894	0.096
18	29101051	C	T	18	31521088	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.08854562165491E-4	0.044
18	29101052	A	C	18	31521089	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.79632461215164E-5	0.03
18	29101052	A	G	18	31521089	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.21474362306703E-4	0.088
18	29101052	A	T	18	31521089	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.92099852957569E-5	0.048
18	29101053	T	A	18	31521090	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999501345968856	0.838
18	29101053	T	C	18	31521090	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.86840823382026E-4	0.096
18	29101053	T	G	18	31521090	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999493924339794	0.852
18	29101054	G	A	18	31521091	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.58606482461721E-4	0.03
18	29101054	G	C	18	31521091	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.06481237244302E-5	0.002
18	29101054	G	T	18	31521091	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.67812768845801E-5	0.002
18	29101055	A	C	18	31521092	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.3390660663422E-4	0.034
18	29101055	A	G	18	31521092	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.20660081744979E-4	0.032
18	29101055	A	T	18	31521092	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.3390660663422E-4	0.038
18	29101056	T	A	18	31521093	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.385030740683083	0.49
18	29101056	T	C	18	31521093	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00123499230007668	0.108
18	29101056	T	G	18	31521093	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999918254436796	0.988
18	29101057	T	A	18	31521094	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.977513889780625	0.632
18	29101057	T	C	18	31521094	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00724525168041946	0.266
18	29101057	T	G	18	31521094	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.957930389648086	0.594
18	29101058	T	A	18	31521095	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.75459221259124E-4	0.008
18	29101058	T	C	18	31521095	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.3334701201678E-4	0.048
18	29101058	T	G	18	31521095	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.94746758445114E-4	0.04
18	29101059	C	A	18	31521096	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.808986659476367	0.736
18	29101059	C	G	18	31521096	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.998983981416887	0.77
18	29101059	C	T	18	31521096	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.85315441347636E-4	0.126
18	29101060	A	C	18	31521097	y	y	splicing	DSG2(NM_001943:exon5:c.379-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.379-2A>C;ENST00000585206:exon5:c.379-2A>C)	.	.	0.99996764000787	0.918
18	29101060	A	G	18	31521097	y	y	splicing	DSG2(NM_001943:exon5:c.379-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.379-2A>G;ENST00000585206:exon5:c.379-2A>G)	.	.	0.99996764000787	0.918
18	29101060	A	T	18	31521097	y	y	splicing	DSG2(NM_001943:exon5:c.379-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.379-2A>T;ENST00000585206:exon5:c.379-2A>T)	.	.	0.999959014379261	0.946
18	29101061	G	A	18	31521098	y	y	splicing	DSG2(NM_001943:exon5:c.379-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.379-1G>A;ENST00000585206:exon5:c.379-1G>A)	.	.	0.999963173300375	0.948
18	29101061	G	C	18	31521098	y	y	splicing	DSG2(NM_001943:exon5:c.379-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.379-1G>C;ENST00000585206:exon5:c.379-1G>C)	.	.	0.999963173300375	0.948
18	29101061	G	T	18	31521098	y	y	splicing	DSG2(NM_001943:exon5:c.379-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.379-1G>T;ENST00000585206:exon5:c.379-1G>T)	.	.	0.999963173300375	0.948
18	29101062	C	A	18	31521099	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.C379A:p.L127I;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C379A:p.L127I;ENSG00000046604:ENST00000261590:exon5:c.C379A:p.L127I;	1.85985300542859E-5	0.0
18	29101062	C	G	18	31521099	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.C379G:p.L127V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C379G:p.L127V;ENSG00000046604:ENST00000261590:exon5:c.C379G:p.L127V;	1.09840834668625E-4	0.078
18	29101062	C	T	18	31521099	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon5:c.C379T:p.L127L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C379T:p.L127L;ENSG00000046604:ENST00000261590:exon5:c.C379T:p.L127L;	1.12496061615901E-4	0.05
18	29101063	T	A	18	31521100	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.T380A:p.L127Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.T380A:p.L127Q;ENSG00000046604:ENST00000261590:exon5:c.T380A:p.L127Q;	0.0130006471248157	0.154
18	29101063	T	C	18	31521100	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.T380C:p.L127P;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.T380C:p.L127P;ENSG00000046604:ENST00000261590:exon5:c.T380C:p.L127P;	0.0012655410406664	0.136
18	29101063	T	G	18	31521100	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.T380G:p.L127R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.T380G:p.L127R;ENSG00000046604:ENST00000261590:exon5:c.T380G:p.L127R;	0.00308366612829121	0.124
18	29101204	C	A	18	31521241	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.C521A:p.A174E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C521A:p.A174E;ENSG00000046604:ENST00000261590:exon5:c.C521A:p.A174E;	3.07748388235816E-4	0.024
18	29101204	C	G	18	31521241	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.C521G:p.A174G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C521G:p.A174G;ENSG00000046604:ENST00000261590:exon5:c.C521G:p.A174G;	0.00111917883285276	0.088
18	29101204	C	T	18	31521241	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.C521T:p.A174V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C521T:p.A174V;ENSG00000046604:ENST00000261590:exon5:c.C521T:p.A174V;	0.0258362145016037	0.328
18	29101205	A	C	18	31521242	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon5:c.A522C:p.A174A;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.A522C:p.A174A;ENSG00000046604:ENST00000261590:exon5:c.A522C:p.A174A;	0.756121803899356	0.652
18	29101205	A	G	18	31521242	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon5:c.A522G:p.A174A;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.A522G:p.A174A;ENSG00000046604:ENST00000261590:exon5:c.A522G:p.A174A;	0.372042770095862	0.47
18	29101205	A	T	18	31521242	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon5:c.A522T:p.A174A;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.A522T:p.A174A;ENSG00000046604:ENST00000261590:exon5:c.A522T:p.A174A;	0.499379824764367	0.618
18	29101206	C	A	18	31521243	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.C523A:p.H175N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C523A:p.H175N;ENSG00000046604:ENST00000261590:exon5:c.C523A:p.H175N;	1.5440287637991E-5	0.002
18	29101206	C	G	18	31521243	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.C523G:p.H175D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C523G:p.H175D;ENSG00000046604:ENST00000261590:exon5:c.C523G:p.H175D;	8.94961736690598E-5	0.146
18	29101206	C	T	18	31521243	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon5:c.C523T:p.H175Y;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon5:c.C523T:p.H175Y;ENSG00000046604:ENST00000261590:exon5:c.C523T:p.H175Y;	0.00162182069893207	0.094
18	29101207	G	A	18	31521244	y	y	splicing	DSG2(NM_001943:exon5:c.523+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.523+1G>A;ENST00000585206:exon5:c.523+1G>A)	.	.	0.99996748057446	0.906
18	29101207	G	C	18	31521244	y	y	splicing	DSG2(NM_001943:exon5:c.523+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.523+1G>C;ENST00000585206:exon5:c.523+1G>C)	.	.	0.99996748057446	0.906
18	29101207	G	T	18	31521244	y	y	splicing	DSG2(NM_001943:exon5:c.523+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.523+1G>T;ENST00000585206:exon5:c.523+1G>T)	.	.	0.99996748057446	0.906
18	29101208	T	A	18	31521245	y	y	splicing	DSG2(NM_001943:exon5:c.523+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.523+2T>A;ENST00000585206:exon5:c.523+2T>A)	.	.	0.999971317418422	0.894
18	29101208	T	C	18	31521245	y	y	splicing	DSG2(NM_001943:exon5:c.523+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.523+2T>C;ENST00000585206:exon5:c.523+2T>C)	.	.	0.967576868761202	0.566
18	29101208	T	G	18	31521245	y	y	splicing	DSG2(NM_001943:exon5:c.523+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon5:c.523+2T>G;ENST00000585206:exon5:c.523+2T>G)	.	.	0.999971317418422	0.882
18	29101209	A	C	18	31521246	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999678384191128	0.914
18	29101209	A	G	18	31521246	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0772963815598797	0.384
18	29101209	A	T	18	31521246	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999785374784947	0.912
18	29101210	A	C	18	31521247	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.139239722806466	0.476
18	29101210	A	G	18	31521247	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.963060406672671	0.774
18	29101210	A	T	18	31521247	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.924855408043529	0.654
18	29101211	G	A	18	31521248	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999952770784312	0.906
18	29101211	G	C	18	31521248	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999884010489715	0.88
18	29101211	G	T	18	31521248	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999957734279741	0.94
18	29101212	A	C	18	31521249	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.51678833223295E-5	0.016
18	29101212	A	G	18	31521249	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.41746725619058E-6	0.002
18	29101212	A	T	18	31521249	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.08387233757793E-5	0.004
18	29101213	G	A	18	31521250	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.47039458636734E-4	0.002
18	29101213	G	C	18	31521250	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.02391335067637E-5	0.0
18	29101213	G	T	18	31521250	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.82300982845093E-4	0.002
18	29101214	T	A	18	31521251	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.68283356060731E-4	0.0
18	29101214	T	C	18	31521251	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.96323034491673E-5	0.0
18	29101214	T	G	18	31521251	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.85284224127919E-4	0.0
18	29102034	T	A	18	31522071	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.998853213400374	0.868
18	29102034	T	C	18	31522071	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.5077377202855	0.288
18	29102034	T	G	18	31522071	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.99848805723722	0.778
18	29102035	T	A	18	31522072	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.998053076449598	0.936
18	29102035	T	C	18	31522072	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.592804961764582	0.364
18	29102035	T	G	18	31522072	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997298195343908	0.88
18	29102036	C	A	18	31522073	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.978233418108221	0.62
18	29102036	C	G	18	31522073	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.935928383239549	0.616
18	29102036	C	T	18	31522073	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.232781788461111	0.384
18	29102037	T	A	18	31522074	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.962550835533942	0.6
18	29102037	T	C	18	31522074	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.82290199416095E-4	0.076
18	29102037	T	G	18	31522074	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.832691520063305	0.53
18	29102038	A	C	18	31522075	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.91036244076087E-5	0.004
18	29102038	A	G	18	31522075	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.74387386195186E-5	0.002
18	29102038	A	T	18	31522075	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.80220167952585E-5	0.006
18	29102039	A	C	18	31522076	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0017954956548082	0.008
18	29102039	A	G	18	31522076	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999603919430899	0.974
18	29102039	A	T	18	31522076	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00243704040352395	0.034
18	29102040	T	A	18	31522077	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999967195840982	0.978
18	29102040	T	C	18	31522077	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.36545074982509E-4	0.126
18	29102040	T	G	18	31522077	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999961316063689	0.976
18	29102041	G	A	18	31522078	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00161830824577649	0.02
18	29102041	G	C	18	31522078	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.36427014850773E-4	0.004
18	29102041	G	T	18	31522078	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.18799212821759E-4	0.01
18	29102042	C	A	18	31522079	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.16919030744998E-5	0.008
18	29102042	C	G	18	31522079	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.44740650295842E-4	0.062
18	29102042	C	T	18	31522079	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.67293545023994E-4	0.002
18	29102043	C	A	18	31522080	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.989798253822796	0.842
18	29102043	C	G	18	31522080	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999871630792077	0.872
18	29102043	C	T	18	31522080	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00442457740970574	0.086
18	29102044	A	C	18	31522081	y	y	splicing	DSG2(NM_001943:exon6:c.524-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon6:c.524-2A>C;ENST00000585206:exon6:c.524-2A>C)	.	.	0.999994064153128	0.932
18	29102044	A	G	18	31522081	y	y	splicing	DSG2(NM_001943:exon6:c.524-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon6:c.524-2A>G;ENST00000585206:exon6:c.524-2A>G)	.	.	0.999994064153128	0.932
18	29102044	A	T	18	31522081	y	y	splicing	DSG2(NM_001943:exon6:c.524-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon6:c.524-2A>T;ENST00000585206:exon6:c.524-2A>T)	.	.	0.999994064153128	0.932
18	29102045	G	A	18	31522082	y	y	splicing	DSG2(NM_001943:exon6:c.524-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon6:c.524-1G>A;ENST00000585206:exon6:c.524-1G>A)	.	.	0.999992425382947	0.928
18	29102045	G	C	18	31522082	y	y	splicing	DSG2(NM_001943:exon6:c.524-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon6:c.524-1G>C;ENST00000585206:exon6:c.524-1G>C)	.	.	0.999992425382947	0.928
18	29102045	G	T	18	31522082	y	y	splicing	DSG2(NM_001943:exon6:c.524-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon6:c.524-1G>T;ENST00000585206:exon6:c.524-1G>T)	.	.	0.999992425382947	0.928
18	29102046	A	C	18	31522083	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.A524C:p.H175P;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A524C:p.H175P;ENSG00000046604:ENST00000261590:exon6:c.A524C:p.H175P;	0.0101717304988561	0.144
18	29102046	A	G	18	31522083	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.A524G:p.H175R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A524G:p.H175R;ENSG00000046604:ENST00000261590:exon6:c.A524G:p.H175R;	9.94024166618763E-4	0.004
18	29102046	A	T	18	31522083	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.A524T:p.H175L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A524T:p.H175L;ENSG00000046604:ENST00000261590:exon6:c.A524T:p.H175L;	0.00891535662463031	0.116
18	29102047	T	A	18	31522084	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.T525A:p.H175Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T525A:p.H175Q;ENSG00000046604:ENST00000261590:exon6:c.T525A:p.H175Q;	0.00272977891676161	0.136
18	29102047	T	C	18	31522084	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon6:c.T525C:p.H175H;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T525C:p.H175H;ENSG00000046604:ENST00000261590:exon6:c.T525C:p.H175H;	0.00743618274890987	0.186
18	29102047	T	G	18	31522084	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.T525G:p.H175Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T525G:p.H175Q;ENSG00000046604:ENST00000261590:exon6:c.T525G:p.H175Q;	0.00397757432086921	0.198
18	29102210	G	A	18	31522247	y	n	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.G688A:p.E230K;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G688A:p.E230K;ENSG00000046604:ENST00000261590:exon6:c.G688A:p.E230K;	0.951815214771858	0.76
18	29102210	G	C	18	31522247	y	n	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.G688C:p.E230Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G688C:p.E230Q;ENSG00000046604:ENST00000261590:exon6:c.G688C:p.E230Q;	0.727545021745181	0.602
18	29102210	G	T	18	31522247	y	n	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon6:c.G688T:p.E230X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000585206:exon6:c.G688T:p.E230X;ENSG00000046604:ENST00000261590:exon6:c.G688T:p.E230X;	0.986324808184515	0.802
18	29102211	A	C	18	31522248	y	n	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.A689C:p.E230A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A689C:p.E230A;ENSG00000046604:ENST00000261590:exon6:c.A689C:p.E230A;	0.942579455223005	0.684
18	29102211	A	G	18	31522248	y	n	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.A689G:p.E230G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A689G:p.E230G;ENSG00000046604:ENST00000261590:exon6:c.A689G:p.E230G;	0.942200752244204	0.84
18	29102211	A	T	18	31522248	y	n	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.A689T:p.E230V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A689T:p.E230V;ENSG00000046604:ENST00000261590:exon6:c.A689T:p.E230V;	0.958080562432737	0.588
18	29102212	G	A	18	31522249	y	n	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon6:c.G690A:p.E230E;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G690A:p.E230E;ENSG00000046604:ENST00000261590:exon6:c.G690A:p.E230E;	0.881696054316006	0.726
18	29102212	G	C	18	31522249	y	n	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.G690C:p.E230D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G690C:p.E230D;ENSG00000046604:ENST00000261590:exon6:c.G690C:p.E230D;	0.976479058112932	0.788
18	29102212	G	T	18	31522249	y	n	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon6:c.G690T:p.E230D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G690T:p.E230D;ENSG00000046604:ENST00000261590:exon6:c.G690T:p.E230D;	0.963995461704105	0.85
18	29102213	G	A	18	31522250	y	n	splicing	DSG2(NM_001943:exon6:c.690+1G>A)	.	.	exonic;splicing	ENSG00000046604;ENSG00000046604(ENST00000261590:exon6:c.690+1G>A)	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G691A:p.V231I;	0.999989072007339	0.928
18	29102213	G	C	18	31522250	y	n	splicing	DSG2(NM_001943:exon6:c.690+1G>C)	.	.	exonic;splicing	ENSG00000046604;ENSG00000046604(ENST00000261590:exon6:c.690+1G>C)	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G691C:p.V231L;	0.999989072007339	0.928
18	29102213	G	T	18	31522250	y	n	splicing	DSG2(NM_001943:exon6:c.690+1G>T)	.	.	exonic;splicing	ENSG00000046604;ENSG00000046604(ENST00000261590:exon6:c.690+1G>T)	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G691T:p.V231L;	0.999989072007339	0.928
18	29102214	T	A	18	31522251	y	n	splicing	DSG2(NM_001943:exon6:c.690+2T>A)	.	.	exonic;splicing	ENSG00000046604;ENSG00000046604(ENST00000261590:exon6:c.690+2T>A)	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T692A:p.V231E;	0.999988247793601	0.932
18	29102214	T	C	18	31522251	y	n	splicing	DSG2(NM_001943:exon6:c.690+2T>C)	.	.	exonic;splicing	ENSG00000046604;ENSG00000046604(ENST00000261590:exon6:c.690+2T>C)	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T692C:p.V231A;	0.992286765165952	0.646
18	29102214	T	G	18	31522251	y	n	splicing	DSG2(NM_001943:exon6:c.690+2T>G)	.	.	exonic;splicing	ENSG00000046604;ENSG00000046604(ENST00000261590:exon6:c.690+2T>G)	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T692G:p.V231G;	0.999988247793601	0.932
18	29102215	A	C	18	31522252	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A693C:p.V231V;	0.842818276437141	0.61
18	29102215	A	G	18	31522252	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A693G:p.V231V;	0.00209611420467681	0.062
18	29102215	A	T	18	31522252	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A693T:p.V231V;	0.706813188336936	0.562
18	29102216	A	C	18	31522253	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A694C:p.S232R;	0.105121501806591	0.36
18	29102216	A	G	18	31522253	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A694G:p.S232G;	0.339050856431248	0.412
18	29102216	A	T	18	31522253	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A694T:p.S232C;	0.25536292845467	0.378
18	29102217	G	A	18	31522254	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G695A:p.S232N;	0.791518156743792	0.408
18	29102217	G	C	18	31522254	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G695C:p.S232T;	0.608093487631936	0.344
18	29102217	G	T	18	31522254	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.G695T:p.S232I;	0.654791743218276	0.334
18	29102218	T	A	18	31522255	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T696A:p.S232R;	0.0807704417955115	0.324
18	29102218	T	C	18	31522255	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T696C:p.S232S;	0.081554131981527	0.296
18	29102218	T	G	18	31522255	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.T696G:p.S232R;	0.0328152226896028	0.18
18	29102219	T	A	18	31522256	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	stoploss SNV	ENSG00000046604:ENST00000585206:exon6:c.T697A:p.X233K;	1.51529724186528E-4	0.006
18	29102219	T	C	18	31522256	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	stoploss SNV	ENSG00000046604:ENST00000585206:exon6:c.T697C:p.X233Q;	1.04461713714159E-4	0.006
18	29102219	T	G	18	31522256	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	stoploss SNV	ENSG00000046604:ENST00000585206:exon6:c.T697G:p.X233E;	4.35480018914068E-5	0.002
18	29102220	A	C	18	31522257	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	stoploss SNV	ENSG00000046604:ENST00000585206:exon6:c.A698C:p.X233S;	9.22645083493076E-4	0.018
18	29102220	A	G	18	31522257	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000585206:exon6:c.A698G:p.X233X;	3.01149381402165E-4	0.0
18	29102220	A	T	18	31522257	y	n	intronic	DSG2	.	.	exonic	ENSG00000046604	stoploss SNV	ENSG00000046604:ENST00000585206:exon6:c.A698T:p.X233L;	2.73239581781771E-4	0.042
18	29104399	A	C	18	31524436	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.02739642619877E-6	0.0
18	29104399	A	G	18	31524436	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.34210607831327E-5	0.006
18	29104399	A	T	18	31524436	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.54708985862287E-5	0.002
18	29104400	T	A	18	31524437	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.154656959381906	0.548
18	29104400	T	C	18	31524437	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0129824212301024	0.266
18	29104400	T	G	18	31524437	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999838221176715	0.95
18	29104401	T	A	18	31524438	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999678157631923	0.972
18	29104401	T	C	18	31524438	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.38452836226284E-4	0.018
18	29104401	T	G	18	31524438	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.245003688895754	0.568
18	29104402	G	A	18	31524439	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.86729630420211E-4	0.004
18	29104402	G	C	18	31524439	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.30567269545123E-4	0.004
18	29104402	G	T	18	31524439	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.80009748532559E-5	0.0
18	29104403	C	A	18	31524440	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00484721678833757	0.04
18	29104403	C	G	18	31524440	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00662702477596921	0.03
18	29104403	C	T	18	31524440	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.29334351036024E-4	0.018
18	29104404	T	A	18	31524441	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0687414553782478	0.198
18	29104404	T	C	18	31524441	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.72745502112147E-4	0.002
18	29104404	T	G	18	31524441	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.271353708860114	0.212
18	29104405	C	A	18	31524442	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00121531390189784	0.078
18	29104405	C	G	18	31524442	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00104711603220399	0.072
18	29104405	C	T	18	31524442	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.16576317555835E-5	0.004
18	29104406	T	A	18	31524443	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.994047622477819	0.844
18	29104406	T	C	18	31524443	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.091542336723E-5	0.048
18	29104406	T	G	18	31524443	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.119882026524389	0.264
18	29104407	G	A	18	31524444	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.99631606502059E-5	0.0
18	29104407	G	C	18	31524444	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.5312556610284E-5	0.0
18	29104407	G	T	18	31524444	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	8.24477002932553E-5	0.002
18	29104408	C	A	18	31524445	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.995097797524264	0.884
18	29104408	C	G	18	31524445	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999793273844498	0.958
18	29104408	C	T	18	31524445	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0903572954847175	0.102
18	29104409	A	C	18	31524446	y	y	splicing	DSG2(NM_001943:exon7:c.691-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.691-2A>C)	.	.	0.999988247793601	0.932
18	29104409	A	G	18	31524446	y	y	splicing	DSG2(NM_001943:exon7:c.691-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.691-2A>G)	.	.	0.999988247793601	0.932
18	29104409	A	T	18	31524446	y	y	splicing	DSG2(NM_001943:exon7:c.691-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.691-2A>T)	.	.	0.999988247793601	0.932
18	29104410	G	A	18	31524447	y	y	splicing	DSG2(NM_001943:exon7:c.691-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.691-1G>A)	.	.	0.999990361384395	0.938
18	29104410	G	C	18	31524447	y	y	splicing	DSG2(NM_001943:exon7:c.691-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.691-1G>C)	.	.	0.999990361384395	0.938
18	29104410	G	T	18	31524447	y	y	splicing	DSG2(NM_001943:exon7:c.691-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.691-1G>T)	.	.	0.999990361384395	0.938
18	29104411	G	A	18	31524448	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.G691A:p.E231K;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.G691A:p.E231K;	0.631269307675456	0.41
18	29104411	G	C	18	31524448	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.G691C:p.E231Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.G691C:p.E231Q;	0.215360920659151	0.372
18	29104411	G	T	18	31524448	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon7:c.G691T:p.E231X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000261590:exon7:c.G691T:p.E231X;	0.99891295947765	0.908
18	29104412	A	C	18	31524449	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.A692C:p.E231A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.A692C:p.E231A;	0.930026807172863	0.784
18	29104412	A	G	18	31524449	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.A692G:p.E231G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.A692G:p.E231G;	0.946430702624866	0.726
18	29104412	A	T	18	31524449	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.A692T:p.E231V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.A692T:p.E231V;	0.870664544380587	0.706
18	29104546	G	A	18	31524583	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.G826A:p.V276M;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.G826A:p.V276M;	1.86261922025178E-5	0.056
18	29104546	G	C	18	31524583	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.G826C:p.V276L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.G826C:p.V276L;	2.08869825386982E-5	0.074
18	29104546	G	T	18	31524583	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.G826T:p.V276L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.G826T:p.V276L;	5.90731654413548E-4	0.076
18	29104547	T	A	18	31524584	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.T827A:p.V276E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.T827A:p.V276E;	1.08824208716883E-4	0.212
18	29104547	T	C	18	31524584	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.T827C:p.V276A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.T827C:p.V276A;	8.17682996923656E-5	0.022
18	29104547	T	G	18	31524584	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon7:c.T827G:p.V276G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.T827G:p.V276G;	3.10606596934415E-4	0.038
18	29104548	G	A	18	31524585	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon7:c.G828A:p.V276V;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.G828A:p.V276V;	0.999988613623762	0.99
18	29104548	G	C	18	31524585	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon7:c.G828C:p.V276V;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.G828C:p.V276V;	0.999996515955277	0.826
18	29104548	G	T	18	31524585	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon7:c.G828T:p.V276V;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon7:c.G828T:p.V276V;	0.999946737808539	0.908
18	29104549	G	A	18	31524586	y	y	splicing	DSG2(NM_001943:exon7:c.828+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.828+1G>A)	.	.	0.999990361384395	0.938
18	29104549	G	C	18	31524586	y	y	splicing	DSG2(NM_001943:exon7:c.828+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.828+1G>C)	.	.	0.999990361384395	0.936
18	29104549	G	T	18	31524586	y	y	splicing	DSG2(NM_001943:exon7:c.828+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.828+1G>T)	.	.	0.999990361384395	0.936
18	29104550	T	A	18	31524587	y	y	splicing	DSG2(NM_001943:exon7:c.828+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.828+2T>A)	.	.	0.999988247793601	0.93
18	29104550	T	C	18	31524587	y	y	splicing	DSG2(NM_001943:exon7:c.828+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.828+2T>C)	.	.	0.98918007292081	0.676
18	29104550	T	G	18	31524587	y	y	splicing	DSG2(NM_001943:exon7:c.828+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon7:c.828+2T>G)	.	.	0.999988247793601	0.93
18	29104551	A	C	18	31524588	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999836469163604	0.95
18	29104551	A	G	18	31524588	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999490309703307	0.888
18	29104551	A	T	18	31524588	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999918203310239	0.952
18	29104552	A	C	18	31524589	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997920770450648	0.816
18	29104552	A	G	18	31524589	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999686760978095	0.922
18	29104552	A	T	18	31524589	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.98909515569619	0.824
18	29104553	C	A	18	31524590	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.24383217226226E-5	0.03
18	29104553	C	G	18	31524590	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.23100788673287E-4	0.04
18	29104553	C	T	18	31524590	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.73097128086211E-5	0.01
18	29104554	T	A	18	31524591	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.989114296230943	0.754
18	29104554	T	C	18	31524591	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.99019358026542	0.868
18	29104554	T	G	18	31524591	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.943251582394124	0.618
18	29104555	A	C	18	31524592	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.67741582444206E-4	0.002
18	29104555	A	G	18	31524592	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.48843110922111E-4	0.028
18	29104555	A	T	18	31524592	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00198297519721213	0.034
18	29104556	T	A	18	31524593	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.55984662119299E-5	0.004
18	29104556	T	C	18	31524593	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.76626444151875E-4	0.004
18	29104556	T	G	18	31524593	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.53400191949334E-4	0.1
18	29104654	C	A	18	31524691	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00119736852501082	0.018
18	29104654	C	G	18	31524691	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00135000520154596	0.028
18	29104654	C	T	18	31524691	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.5335877336063E-5	0.002
18	29104655	A	C	18	31524692	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.93800505767764E-6	0.0
18	29104655	A	G	18	31524692	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.93800505767764E-6	0.0
18	29104655	A	T	18	31524692	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.49811543647207E-5	0.064
18	29104656	T	A	18	31524693	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999947443176102	0.954
18	29104656	T	C	18	31524693	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0152669154425508	0.168
18	29104656	T	G	18	31524693	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999960872821698	0.96
18	29104657	G	A	18	31524694	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.56119284297182E-4	0.022
18	29104657	G	C	18	31524694	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.76016377566282E-5	0.01
18	29104657	G	T	18	31524694	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.22324660413101E-5	0.006
18	29104658	T	A	18	31524695	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00695705151165554	0.328
18	29104658	T	C	18	31524695	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.44436625213179E-5	0.0
18	29104658	T	G	18	31524695	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00228227812027989	0.282
18	29104659	T	A	18	31524696	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0224705360124673	0.184
18	29104659	T	C	18	31524696	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.87205081078611E-5	0.016
18	29104659	T	G	18	31524696	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.015412117704459	0.156
18	29104660	T	A	18	31524697	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.626171684320179	0.576
18	29104660	T	C	18	31524697	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.00918369746831E-4	0.018
18	29104660	T	G	18	31524697	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.557669040093286	0.556
18	29104661	T	A	18	31524698	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999788442238022	0.918
18	29104661	T	C	18	31524698	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0202198823456926	0.18
18	29104661	T	G	18	31524698	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.751550423531599	0.456
18	29104662	G	A	18	31524699	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.08727810504357E-5	0.0
18	29104662	G	C	18	31524699	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.08028256199011E-5	0.052
18	29104662	G	T	18	31524699	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.20980086130566E-5	0.004
18	29104663	C	A	18	31524700	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.531551712626557	0.506
18	29104663	C	G	18	31524700	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999634754811714	0.862
18	29104663	C	T	18	31524700	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00521113355393229	0.11
18	29104664	A	C	18	31524701	y	y	splicing	DSG2(NM_001943:exon8:c.829-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.829-2A>C)	.	.	0.999971317418422	0.916
18	29104664	A	G	18	31524701	y	y	splicing	DSG2(NM_001943:exon8:c.829-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.829-2A>G)	.	.	0.999971317418422	0.916
18	29104664	A	T	18	31524701	y	y	splicing	DSG2(NM_001943:exon8:c.829-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.829-2A>T)	.	.	0.999971317418422	0.918
18	29104665	G	A	18	31524702	y	y	splicing	DSG2(NM_001943:exon8:c.829-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.829-1G>A)	.	.	0.999970205305079	0.934
18	29104665	G	C	18	31524702	y	y	splicing	DSG2(NM_001943:exon8:c.829-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.829-1G>C)	.	.	0.999976475802857	0.914
18	29104665	G	T	18	31524702	y	y	splicing	DSG2(NM_001943:exon8:c.829-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.829-1G>T)	.	.	0.999976475802857	0.912
18	29104666	C	A	18	31524703	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.C829A:p.L277I;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.C829A:p.L277I;	2.60541129509634E-5	0.0
18	29104666	C	G	18	31524703	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.C829G:p.L277V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.C829G:p.L277V;	5.45753687414085E-5	0.106
18	29104666	C	T	18	31524703	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.C829T:p.L277F;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.C829T:p.L277F;	5.63326393082881E-5	0.01
18	29104667	T	A	18	31524704	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.T830A:p.L277H;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.T830A:p.L277H;	9.36970266066449E-4	0.048
18	29104667	T	C	18	31524704	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.T830C:p.L277P;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.T830C:p.L277P;	8.55693736947624E-4	0.052
18	29104667	T	G	18	31524704	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.T830G:p.L277R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.T830G:p.L277R;	9.36970266066449E-4	0.066
18	29104849	A	C	18	31524886	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.A1012C:p.K338Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.A1012C:p.K338Q;	0.669947777448453	0.672
18	29104849	A	G	18	31524886	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.A1012G:p.K338E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.A1012G:p.K338E;	0.227330588433872	0.434
18	29104849	A	T	18	31524886	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon8:c.A1012T:p.K338X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000261590:exon8:c.A1012T:p.K338X;	0.934188490715964	0.544
18	29104850	A	C	18	31524887	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.A1013C:p.K338T;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.A1013C:p.K338T;	0.98927606125484	0.698
18	29104850	A	G	18	31524887	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.A1013G:p.K338R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.A1013G:p.K338R;	0.989312456333343	0.754
18	29104850	A	T	18	31524887	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.A1013T:p.K338M;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.A1013T:p.K338M;	0.98927606125484	0.634
18	29104851	G	A	18	31524888	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon8:c.G1014A:p.K338K;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.G1014A:p.K338K;	0.273696422239964	0.406
18	29104851	G	C	18	31524888	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.G1014C:p.K338N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.G1014C:p.K338N;	0.988994812822307	0.844
18	29104851	G	T	18	31524888	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon8:c.G1014T:p.K338N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon8:c.G1014T:p.K338N;	0.989345769155715	0.832
18	29104852	G	A	18	31524889	y	y	splicing	DSG2(NM_001943:exon8:c.1014+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.1014+1G>A)	.	.	0.999986675681007	0.924
18	29104852	G	C	18	31524889	y	y	splicing	DSG2(NM_001943:exon8:c.1014+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.1014+1G>C)	.	.	0.999986675681007	0.924
18	29104852	G	T	18	31524889	y	y	splicing	DSG2(NM_001943:exon8:c.1014+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.1014+1G>T)	.	.	0.999986675681007	0.924
18	29104853	T	A	18	31524890	y	y	splicing	DSG2(NM_001943:exon8:c.1014+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.1014+2T>A)	.	.	0.999988247793601	0.926
18	29104853	T	C	18	31524890	y	y	splicing	DSG2(NM_001943:exon8:c.1014+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.1014+2T>C)	.	.	0.987352667010778	0.574
18	29104853	T	G	18	31524890	y	y	splicing	DSG2(NM_001943:exon8:c.1014+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon8:c.1014+2T>G)	.	.	0.999988247793601	0.926
18	29104854	A	C	18	31524891	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.273738807374452	0.392
18	29104854	A	G	18	31524891	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00612116665836944	0.05
18	29104854	A	T	18	31524891	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.368784044163542	0.438
18	29104855	A	C	18	31524892	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.52466388492167	0.504
18	29104855	A	G	18	31524892	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.54242512305209	0.454
18	29104855	A	T	18	31524892	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.44215706059559	0.5
18	29104856	G	A	18	31524893	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.673785070944063	0.516
18	29104856	G	C	18	31524893	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.588139388564644	0.486
18	29104856	G	T	18	31524893	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.72978319669716	0.506
18	29104857	T	A	18	31524894	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.13944066919268E-4	0.062
18	29104857	T	C	18	31524894	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00231036220486375	0.038
18	29104857	T	G	18	31524894	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.28022323037017E-4	0.038
18	29104858	A	C	18	31524895	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.17119222840784E-5	0.0
18	29104858	A	G	18	31524895	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.17119222840784E-5	0.0
18	29104858	A	T	18	31524895	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.1193638191297E-4	0.0
18	29104859	C	A	18	31524896	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.21272025142916E-5	0.006
18	29104859	C	G	18	31524896	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.21272025142916E-5	0.002
18	29104859	C	T	18	31524896	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.88951250399587E-5	0.002
18	29110938	T	A	18	31530975	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00466294648300376	0.154
18	29110938	T	C	18	31530975	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00183408957490183	0.03
18	29110938	T	G	18	31530975	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00336690618165887	0.106
18	29110939	T	A	18	31530976	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.3745913897212E-4	0.236
18	29110939	T	C	18	31530976	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.39415654318184E-5	0.024
18	29110939	T	G	18	31530976	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.88979675878031E-5	0.09
18	29110940	T	A	18	31530977	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00272146802798724	0.154
18	29110940	T	C	18	31530977	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.71767843115481E-4	0.016
18	29110940	T	G	18	31530977	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.80347497242434E-4	0.078
18	29110941	C	A	18	31530978	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.05241764820117E-4	0.038
18	29110941	C	G	18	31530978	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.26564517665586E-4	0.036
18	29110941	C	T	18	31530978	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.34857448103916E-5	0.024
18	29110942	C	A	18	31530979	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.0615426930381E-4	0.038
18	29110942	C	G	18	31530979	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.7245259316885E-4	0.034
18	29110942	C	T	18	31530979	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.75362955213638E-5	0.002
18	29110943	C	A	18	31530980	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.07962166825332E-4	0.038
18	29110943	C	G	18	31530980	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.88324185459868E-4	0.026
18	29110943	C	T	18	31530980	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.68175299821724E-5	0.004
18	29110944	T	A	18	31530981	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00122546237120717	0.244
18	29110944	T	C	18	31530981	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	8.01481783540341E-5	0.016
18	29110944	T	G	18	31530981	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00178871000616569	0.148
18	29110945	T	A	18	31530982	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.28714042748243E-4	0.146
18	29110945	T	C	18	31530982	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.61108038221436E-4	0.058
18	29110945	T	G	18	31530982	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.74644554982495E-4	0.146
18	29110946	T	A	18	31530983	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.09907961834748E-4	0.078
18	29110946	T	C	18	31530983	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.9681344066132E-5	0.058
18	29110946	T	G	18	31530983	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.37288630411834E-5	0.086
18	29110947	C	A	18	31530984	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0467594581951983	0.33
18	29110947	C	G	18	31530984	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.807130110840083	0.47
18	29110947	C	T	18	31530984	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.28098002647447E-4	0.008
18	29110948	A	C	18	31530985	y	y	splicing	DSG2(NM_001943:exon9:c.1015-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1015-2A>C)	.	.	0.999939020951004	0.924
18	29110948	A	G	18	31530985	y	y	splicing	DSG2(NM_001943:exon9:c.1015-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1015-2A>G)	.	.	0.999939020951004	0.924
18	29110948	A	T	18	31530985	y	y	splicing	DSG2(NM_001943:exon9:c.1015-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1015-2A>T)	.	.	0.999939020951004	0.922
18	29110949	G	A	18	31530986	y	y	splicing	DSG2(NM_001943:exon9:c.1015-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1015-1G>A)	.	.	0.999986675681007	0.932
18	29110949	G	C	18	31530986	y	y	splicing	DSG2(NM_001943:exon9:c.1015-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1015-1G>C)	.	.	0.999986675681007	0.932
18	29110949	G	T	18	31530986	y	y	splicing	DSG2(NM_001943:exon9:c.1015-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1015-1G>T)	.	.	0.999986675681007	0.932
18	29110950	G	A	18	31530987	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.G1015A:p.E339K;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.G1015A:p.E339K;	0.466291987976194	0.32
18	29110950	G	C	18	31530987	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.G1015C:p.E339Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.G1015C:p.E339Q;	0.801152458185048	0.66
18	29110950	G	T	18	31530987	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon9:c.G1015T:p.E339X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000261590:exon9:c.G1015T:p.E339X;	0.980030970895019	0.756
18	29110951	A	C	18	31530988	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.A1016C:p.E339A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.A1016C:p.E339A;	2.16553435354502E-4	0.016
18	29110951	A	G	18	31530988	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.A1016G:p.E339G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.A1016G:p.E339G;	0.00524546005778921	0.036
18	29110951	A	T	18	31530988	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.A1016T:p.E339V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.A1016T:p.E339V;	7.61852243760487E-4	0.076
18	29111213	A	C	18	31531250	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon9:c.A1278C:p.A426A;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.A1278C:p.A426A;	2.88047436658921E-5	0.0
18	29111213	A	G	18	31531250	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon9:c.A1278G:p.A426A;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.A1278G:p.A426A;	4.00474482169272E-5	0.004
18	29111213	A	T	18	31531250	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon9:c.A1278T:p.A426A;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.A1278T:p.A426A;	4.0047457193903E-4	0.102
18	29111214	A	C	18	31531251	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon9:c.A1279C:p.R427R;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.A1279C:p.R427R;	0.308205133391624	0.456
18	29111214	A	G	18	31531251	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.A1279G:p.R427G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.A1279G:p.R427G;	0.981942014420844	0.84
18	29111214	A	T	18	31531251	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon9:c.A1279T:p.R427X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000261590:exon9:c.A1279T:p.R427X;	0.992481448026399	0.616
18	29111215	G	A	18	31531252	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.G1280A:p.R427K;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.G1280A:p.R427K;	0.607530681385981	0.668
18	29111215	G	C	18	31531252	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.G1280C:p.R427T;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.G1280C:p.R427T;	0.97583960369252	0.712
18	29111215	G	T	18	31531252	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon9:c.G1280T:p.R427I;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon9:c.G1280T:p.R427I;	0.985832922797505	0.694
18	29111216	G	A	18	31531253	y	y	splicing	DSG2(NM_001943:exon9:c.1280+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1280+1G>A)	.	.	0.999972155025474	0.86
18	29111216	G	C	18	31531253	y	y	splicing	DSG2(NM_001943:exon9:c.1280+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1280+1G>C)	.	.	0.999969255906173	0.874
18	29111216	G	T	18	31531253	y	y	splicing	DSG2(NM_001943:exon9:c.1280+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1280+1G>T)	.	.	0.999972155025474	0.88
18	29111217	T	A	18	31531254	y	y	splicing	DSG2(NM_001943:exon9:c.1280+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1280+2T>A)	.	.	0.999985353572514	0.868
18	29111217	T	C	18	31531254	y	y	splicing	DSG2(NM_001943:exon9:c.1280+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1280+2T>C)	.	.	0.964766952976112	0.538
18	29111217	T	G	18	31531254	y	y	splicing	DSG2(NM_001943:exon9:c.1280+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon9:c.1280+2T>G)	.	.	0.99998382861657	0.86
18	29111218	A	C	18	31531255	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.971194116629857	0.644
18	29111218	A	G	18	31531255	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.071934346519982	0.23
18	29111218	A	T	18	31531255	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.959049248853698	0.618
18	29111219	A	C	18	31531256	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.484140170945098	0.502
18	29111219	A	G	18	31531256	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.606416023018983	0.438
18	29111219	A	T	18	31531256	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.49812474929979	0.472
18	29111220	G	A	18	31531257	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.912914719739428	0.564
18	29111220	G	C	18	31531257	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.7787639870267	0.484
18	29111220	G	T	18	31531257	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.944906207271695	0.478
18	29111221	A	C	18	31531258	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.56680845148083E-4	0.016
18	29111221	A	G	18	31531258	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.68724158646927E-4	0.016
18	29111221	A	T	18	31531258	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.66099378149756E-4	0.014
18	29111222	G	A	18	31531259	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.0989714227838E-5	0.0
18	29111222	G	C	18	31531259	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.01848708658499E-5	0.0
18	29111222	G	T	18	31531259	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.36195737818257E-5	0.0
18	29111223	A	C	18	31531260	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.41863113010999E-4	0.0
18	29111223	A	G	18	31531260	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.41863113010999E-4	0.002
18	29111223	A	T	18	31531260	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.41863113010999E-4	0.002
18	29115221	G	A	18	31535258	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00212029629908319	0.294
18	29115221	G	C	18	31535258	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.14584689003687E-5	0.002
18	29115221	G	T	18	31535258	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.14584689003687E-5	0.006
18	29115222	T	A	18	31535259	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.820918397082339	0.682
18	29115222	T	C	18	31535259	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0127680627864529	0.178
18	29115222	T	G	18	31535259	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.791116849412531	0.65
18	29115223	T	A	18	31535260	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.977670989061952	0.748
18	29115223	T	C	18	31535260	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00938656036180025	0.104
18	29115223	T	G	18	31535260	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.985298269347764	0.722
18	29115224	T	A	18	31535261	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.990574490722402	0.852
18	29115224	T	C	18	31535261	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.252469453096855	0.214
18	29115224	T	G	18	31535261	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.995778965429591	0.7
18	29115225	T	A	18	31535262	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.755992832794004	0.642
18	29115225	T	C	18	31535262	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00977693058888312	0.094
18	29115225	T	G	18	31535262	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.606424862635877	0.706
18	29115226	A	C	18	31535263	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.05208371546012E-4	0.008
18	29115226	A	G	18	31535263	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.61411708839113E-4	0.01
18	29115226	A	T	18	31535263	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.37850316264128E-5	0.002
18	29115227	T	A	18	31535264	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999966460768809	0.956
18	29115227	T	C	18	31535264	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.64437143866821E-4	0.068
18	29115227	T	G	18	31535264	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999925941488245	0.968
18	29115228	G	A	18	31535265	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.82720251981653E-5	0.0
18	29115228	G	C	18	31535265	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.05904863100866E-5	0.002
18	29115228	G	T	18	31535265	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.82715118927891E-5	0.004
18	29115229	A	C	18	31535266	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0012721801688731	0.008
18	29115229	A	G	18	31535266	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00287823129945802	0.082
18	29115229	A	T	18	31535266	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00831630773524917	0.048
18	29115230	C	A	18	31535267	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.926567263821141	0.72
18	29115230	C	G	18	31535267	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999833966049434	0.914
18	29115230	C	T	18	31535267	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00477533280229844	0.058
18	29115231	A	C	18	31535268	y	y	splicing	DSG2(NM_001943:exon10:c.1281-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1281-2A>C)	.	.	0.999986472513537	0.936
18	29115231	A	G	18	31535268	y	y	splicing	DSG2(NM_001943:exon10:c.1281-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1281-2A>G)	.	.	0.999986472513537	0.936
18	29115231	A	T	18	31535268	y	y	splicing	DSG2(NM_001943:exon10:c.1281-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1281-2A>T)	.	.	0.999986472513537	0.938
18	29115232	G	A	18	31535269	y	y	splicing	DSG2(NM_001943:exon10:c.1281-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1281-1G>A)	.	.	0.999988247793601	0.926
18	29115232	G	C	18	31535269	y	y	splicing	DSG2(NM_001943:exon10:c.1281-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1281-1G>C)	.	.	0.999978952611685	0.92
18	29115232	G	T	18	31535269	y	y	splicing	DSG2(NM_001943:exon10:c.1281-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1281-1G>T)	.	.	0.999978952611685	0.926
18	29115233	A	C	18	31535270	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.A1281C:p.R427S;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1281C:p.R427S;	0.00298459455646198	0.094
18	29115233	A	G	18	31535270	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon10:c.A1281G:p.R427R;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1281G:p.R427R;	1.98709184581291E-4	0.006
18	29115233	A	T	18	31535270	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.A1281T:p.R427S;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1281T:p.R427S;	0.0065266076881598	0.104
18	29115234	T	A	18	31535271	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.T1282A:p.Y428N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.T1282A:p.Y428N;	0.815972399913337	0.376
18	29115234	T	C	18	31535271	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.T1282C:p.Y428H;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.T1282C:p.Y428H;	0.693404553443942	0.304
18	29115234	T	G	18	31535271	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.T1282G:p.Y428D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.T1282G:p.Y428D;	0.818641649458006	0.354
18	29115373	A	C	18	31535410	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.A1421C:p.E474A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1421C:p.E474A;	0.00847458025031449	0.016
18	29115373	A	G	18	31535410	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.A1421G:p.E474G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1421G:p.E474G;	0.00388707742250163	0.07
18	29115373	A	T	18	31535410	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.A1421T:p.E474V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1421T:p.E474V;	0.847719522921108	0.354
18	29115374	A	C	18	31535411	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.A1422C:p.E474D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1422C:p.E474D;	0.200052665203792	0.396
18	29115374	A	G	18	31535411	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon10:c.A1422G:p.E474E;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1422G:p.E474E;	0.339706070299997	0.248
18	29115374	A	T	18	31535411	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.A1422T:p.E474D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.A1422T:p.E474D;	0.252480009274307	0.382
18	29115375	G	A	18	31535412	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.G1423A:p.D475N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.G1423A:p.D475N;	0.534901909294495	0.484
18	29115375	G	C	18	31535412	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.G1423C:p.D475H;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.G1423C:p.D475H;	0.958827927832081	0.862
18	29115375	G	T	18	31535412	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon10:c.G1423T:p.D475Y;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon10:c.G1423T:p.D475Y;	0.603987274298848	0.55
18	29115376	G	A	18	31535413	y	y	splicing	DSG2(NM_001943:exon10:c.1423+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1423+1G>A)	.	.	0.999972736107851	0.936
18	29115376	G	C	18	31535413	y	y	splicing	DSG2(NM_001943:exon10:c.1423+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1423+1G>C)	.	.	0.999982214677668	0.932
18	29115376	G	T	18	31535413	y	y	splicing	DSG2(NM_001943:exon10:c.1423+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1423+1G>T)	.	.	0.999982214677668	0.934
18	29115377	T	A	18	31535414	y	y	splicing	DSG2(NM_001943:exon10:c.1423+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1423+2T>A)	.	.	0.99996509239462	0.938
18	29115377	T	C	18	31535414	y	y	splicing	DSG2(NM_001943:exon10:c.1423+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1423+2T>C)	.	.	0.951273806866551	0.616
18	29115377	T	G	18	31535414	y	y	splicing	DSG2(NM_001943:exon10:c.1423+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon10:c.1423+2T>G)	.	.	0.99996509239462	0.944
18	29115378	A	C	18	31535415	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0358099756513566	0.38
18	29115378	A	G	18	31535415	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.47146003088863E-5	0.01
18	29115378	A	T	18	31535415	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0290009848365992	0.406
18	29115379	A	C	18	31535416	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.332547664727106	0.458
18	29115379	A	G	18	31535416	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.619679419597665	0.498
18	29115379	A	T	18	31535416	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.633645716409534	0.52
18	29115380	G	A	18	31535417	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.85521889089771	0.702
18	29115380	G	C	18	31535417	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.849864357087878	0.582
18	29115380	G	T	18	31535417	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.940194848497564	0.668
18	29115381	T	A	18	31535418	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00969506557740782	0.246
18	29115381	T	C	18	31535418	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0255045178938504	0.208
18	29115381	T	G	18	31535418	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00409115779592661	0.17
18	29115382	T	A	18	31535419	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.4076558401562E-4	0.0
18	29115382	T	C	18	31535419	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.4076558401562E-4	0.0
18	29115382	T	G	18	31535419	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.4076558401562E-4	0.0
18	29115383	A	C	18	31535420	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.33609814332191E-5	0.002
18	29115383	A	G	18	31535420	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.78667633506325E-5	0.002
18	29115383	A	T	18	31535420	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.00335281140436E-5	0.002
18	29116153	C	A	18	31536190	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.70197412638862E-4	0.004
18	29116153	C	G	18	31536190	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.6454263230255E-4	0.018
18	29116153	C	T	18	31536190	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.22106991274733E-5	0.0
18	29116154	T	A	18	31536191	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00157744046777869	0.212
18	29116154	T	C	18	31536191	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.86161503658157E-4	0.102
18	29116154	T	G	18	31536191	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00109975866527899	0.212
18	29116155	T	A	18	31536192	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00740473888146811	0.228
18	29116155	T	C	18	31536192	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0010421198392387	0.018
18	29116155	T	G	18	31536192	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00692871769444518	0.252
18	29116156	A	C	18	31536193	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.63127057258705E-5	0.0
18	29116156	A	G	18	31536193	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.03922575992868E-4	0.0
18	29116156	A	T	18	31536193	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.59551896709084E-5	0.0
18	29116157	T	A	18	31536194	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.80428070706054E-4	0.086
18	29116157	T	C	18	31536194	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.0571868990816E-5	0.0
18	29116157	T	G	18	31536194	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999853446919875	0.992
18	29116158	T	A	18	31536195	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00117274426273442	0.09
18	29116158	T	C	18	31536195	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.76139226783218E-5	0.016
18	29116158	T	G	18	31536195	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00163629422253657	0.1
18	29116159	T	A	18	31536196	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00873808082581088	0.134
18	29116159	T	C	18	31536196	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.26502603516666E-4	0.044
18	29116159	T	G	18	31536196	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00465812852120987	0.14
18	29116160	T	A	18	31536197	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0193183964340477	0.322
18	29116160	T	C	18	31536197	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.72075180156963E-4	0.028
18	29116160	T	G	18	31536197	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.311915215335248	0.416
18	29116161	T	A	18	31536198	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.99776258932111E-5	0.006
18	29116161	T	C	18	31536198	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.66710762065406E-5	0.004
18	29116161	T	G	18	31536198	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.93591729747254E-5	0.01
18	29116162	A	C	18	31536199	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.9397419009045E-4	0.124
18	29116162	A	G	18	31536199	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.319013182677535	0.258
18	29116162	A	T	18	31536199	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.04807950759166E-4	0.0
18	29116163	A	C	18	31536200	y	y	splicing	DSG2(NM_001943:exon11:c.1424-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1424-2A>C)	.	.	0.999971317418422	0.898
18	29116163	A	G	18	31536200	y	y	splicing	DSG2(NM_001943:exon11:c.1424-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1424-2A>G)	.	.	0.999971317418422	0.898
18	29116163	A	T	18	31536200	y	y	splicing	DSG2(NM_001943:exon11:c.1424-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1424-2A>T)	.	.	0.999971317418422	0.9
18	29116164	G	A	18	31536201	y	y	splicing	DSG2(NM_001943:exon11:c.1424-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1424-1G>A)	.	.	0.999976497472853	0.8
18	29116164	G	C	18	31536201	y	y	splicing	DSG2(NM_001943:exon11:c.1424-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1424-1G>C)	.	.	0.999987472436108	0.776
18	29116164	G	T	18	31536201	y	y	splicing	DSG2(NM_001943:exon11:c.1424-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1424-1G>T)	.	.	0.999976497472853	0.79
18	29116165	A	C	18	31536202	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1424C:p.D475A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1424C:p.D475A;	0.00172557541779371	0.062
18	29116165	A	G	18	31536202	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1424G:p.D475G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1424G:p.D475G;	2.36706811604778E-5	0.0
18	29116165	A	T	18	31536202	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1424T:p.D475V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1424T:p.D475V;	0.00173344966589392	0.01
18	29116166	T	A	18	31536203	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.T1425A:p.D475E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.T1425A:p.D475E;	7.20524854228289E-4	0.068
18	29116166	T	C	18	31536203	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon11:c.T1425C:p.D475D;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.T1425C:p.D475D;	2.16764385450237E-4	0.242
18	29116166	T	G	18	31536203	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.T1425G:p.D475E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.T1425G:p.D475E;	5.22128352190534E-4	0.06
18	29116390	A	C	18	31536427	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1649C:p.E550A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1649C:p.E550A;	3.05646548757631E-4	0.004
18	29116390	A	G	18	31536427	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1649G:p.E550G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1649G:p.E550G;	5.1630791334439E-4	0.032
18	29116390	A	T	18	31536427	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1649T:p.E550V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1649T:p.E550V;	0.498697557002549	0.594
18	29116391	A	C	18	31536428	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1650C:p.E550D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1650C:p.E550D;	0.924779204634984	0.734
18	29116391	A	G	18	31536428	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon11:c.A1650G:p.E550E;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1650G:p.E550E;	0.645240381137346	0.474
18	29116391	A	T	18	31536428	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1650T:p.E550D;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1650T:p.E550D;	0.942390764203336	0.798
18	29116392	A	C	18	31536429	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1651C:p.S551R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1651C:p.S551R;	3.68717106229833E-5	0.148
18	29116392	A	G	18	31536429	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1651G:p.S551G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1651G:p.S551G;	0.00115306657751224	0.162
18	29116392	A	T	18	31536429	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon11:c.A1651T:p.S551C;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon11:c.A1651T:p.S551C;	7.72315801756993E-4	0.152
18	29116393	G	A	18	31536430	y	y	splicing	DSG2(NM_001943:exon11:c.1651+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1651+1G>A)	.	.	0.999989072007339	0.934
18	29116393	G	C	18	31536430	y	y	splicing	DSG2(NM_001943:exon11:c.1651+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1651+1G>C)	.	.	0.999989072007339	0.934
18	29116393	G	T	18	31536430	y	y	splicing	DSG2(NM_001943:exon11:c.1651+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1651+1G>T)	.	.	0.999989072007339	0.934
18	29116394	T	A	18	31536431	y	y	splicing	DSG2(NM_001943:exon11:c.1651+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1651+2T>A)	.	.	0.999988247793601	0.928
18	29116394	T	C	18	31536431	y	y	splicing	DSG2(NM_001943:exon11:c.1651+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1651+2T>C)	.	.	0.991245725732999	0.67
18	29116394	T	G	18	31536431	y	y	splicing	DSG2(NM_001943:exon11:c.1651+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon11:c.1651+2T>G)	.	.	0.999988247793601	0.928
18	29116395	A	C	18	31536432	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999630043559219	0.898
18	29116395	A	G	18	31536432	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.119125667329523	0.304
18	29116395	A	T	18	31536432	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999743101580014	0.922
18	29116396	A	C	18	31536433	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.767802017978857	0.604
18	29116396	A	G	18	31536433	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.931402018501545	0.772
18	29116396	A	T	18	31536433	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.972236302960079	0.834
18	29116397	G	A	18	31536434	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999987227637026	0.986
18	29116397	G	C	18	31536434	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999976318408569	0.934
18	29116397	G	T	18	31536434	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999981448762967	0.994
18	29116398	C	A	18	31536435	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00110664795439318	0.072
18	29116398	C	G	18	31536435	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.40311314029877E-4	0.03
18	29116398	C	T	18	31536435	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.03610738223393E-4	0.014
18	29116399	A	C	18	31536436	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.08277096640503E-5	0.022
18	29116399	A	G	18	31536436	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.36551044439737E-4	0.004
18	29116399	A	T	18	31536436	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.32970058673207E-4	0.086
18	29116400	A	C	18	31536437	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.86355290641647E-5	0.0
18	29116400	A	G	18	31536437	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.0796431562774E-5	0.0
18	29116400	A	T	18	31536437	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.02217908586163E-5	0.0
18	29118702	C	A	18	31538739	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00173211541187203	0.036
18	29118702	C	G	18	31538739	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00912582919935567	0.05
18	29118702	C	T	18	31538739	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.69953273733539E-5	0.002
18	29118703	C	A	18	31538740	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.25831204546863E-4	0.014
18	29118703	C	G	18	31538740	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.57477938312351E-4	0.046
18	29118703	C	T	18	31538740	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.84652278608077E-5	0.0
18	29118704	A	C	18	31538741	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.2104235730896E-5	0.024
18	29118704	A	G	18	31538741	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	8.57736679823038E-6	0.0
18	29118704	A	T	18	31538741	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.250243698046E-5	0.0
18	29118705	A	C	18	31538742	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.82280997030666E-5	0.002
18	29118705	A	G	18	31538742	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.988174475677454	0.99
18	29118705	A	T	18	31538742	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.56234718474791E-5	0.002
18	29118706	C	A	18	31538743	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00977582621082729	0.144
18	29118706	C	G	18	31538743	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999894480528607	0.968
18	29118706	C	T	18	31538743	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.79719291064054E-5	0.006
18	29118707	C	A	18	31538744	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.95559770266179E-4	0.07
18	29118707	C	G	18	31538744	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.06542366247244E-4	0.052
18	29118707	C	T	18	31538744	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.59263380380195E-5	0.0
18	29118708	T	A	18	31538745	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00699165666870553	0.326
18	29118708	T	C	18	31538745	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.27780037367257E-4	0.006
18	29118708	T	G	18	31538745	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00502614474495342	0.362
18	29118709	T	A	18	31538746	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.91793867013165	0.71
18	29118709	T	C	18	31538746	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.2434701170157E-5	0.012
18	29118709	T	G	18	31538746	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.038229838973834	0.28
18	29118710	G	A	18	31538747	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.57167924005278E-5	0.0
18	29118710	G	C	18	31538747	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.62420568250738E-5	0.0
18	29118710	G	T	18	31538747	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.37013537469509E-5	0.0
18	29118711	T	A	18	31538748	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00390874765695051	0.194
18	29118711	T	C	18	31538748	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.20202702236822E-4	0.002
18	29118711	T	G	18	31538748	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.840794314391697	0.69
18	29118712	A	C	18	31538749	y	y	splicing	DSG2(NM_001943:exon12:c.1652-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1652-2A>C)	.	.	0.999946188727699	0.944
18	29118712	A	G	18	31538749	y	y	splicing	DSG2(NM_001943:exon12:c.1652-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1652-2A>G)	.	.	0.999946188727699	0.944
18	29118712	A	T	18	31538749	y	y	splicing	DSG2(NM_001943:exon12:c.1652-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1652-2A>T)	.	.	0.99994568797423	0.944
18	29118713	G	A	18	31538750	y	y	splicing	DSG2(NM_001943:exon12:c.1652-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1652-1G>A)	.	.	0.99995545544995	0.932
18	29118713	G	C	18	31538750	y	y	splicing	DSG2(NM_001943:exon12:c.1652-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1652-1G>C)	.	.	0.99995545544995	0.934
18	29118713	G	T	18	31538750	y	y	splicing	DSG2(NM_001943:exon12:c.1652-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1652-1G>T)	.	.	0.99995545544995	0.934
18	29118714	G	A	18	31538751	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.G1652A:p.S551N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.G1652A:p.S551N;	0.848912437117402	0.612
18	29118714	G	C	18	31538751	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.G1652C:p.S551T;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.G1652C:p.S551T;	0.633490209877875	0.64
18	29118714	G	T	18	31538751	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.G1652T:p.S551I;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.G1652T:p.S551I;	0.995967512780572	0.968
18	29118715	T	A	18	31538752	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.T1653A:p.S551R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1653A:p.S551R;	0.0451553374079277	0.136
18	29118715	T	C	18	31538752	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon12:c.T1653C:p.S551S;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1653C:p.S551S;	0.0032605883601834	0.216
18	29118715	T	G	18	31538752	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.T1653G:p.S551R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1653G:p.S551R;	0.0385583752313129	0.132
18	29118939	T	A	18	31538976	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.T1877A:p.L626Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1877A:p.L626Q;	0.349484215731656	0.518
18	29118939	T	C	18	31538976	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.T1877C:p.L626P;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1877C:p.L626P;	0.0752296282730549	0.344
18	29118939	T	G	18	31538976	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.T1877G:p.L626R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1877G:p.L626R;	0.417235589810825	0.58
18	29118940	A	C	18	31538977	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon12:c.A1878C:p.L626L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.A1878C:p.L626L;	0.0153403259900954	0.476
18	29118940	A	G	18	31538977	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon12:c.A1878G:p.L626L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.A1878G:p.L626L;	0.00716912173341322	0.37
18	29118940	A	T	18	31538977	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon12:c.A1878T:p.L626L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.A1878T:p.L626L;	0.00722228582693771	0.44
18	29118941	T	A	18	31538978	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.T1879A:p.L627M;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1879A:p.L627M;	0.00195653076288139	0.228
18	29118941	T	C	18	31538978	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon12:c.T1879C:p.L627L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1879C:p.L627L;	3.13338310206428E-4	0.17
18	29118941	T	G	18	31538978	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon12:c.T1879G:p.L627V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon12:c.T1879G:p.L627V;	4.04353639724953E-4	0.086
18	29118942	G	A	18	31538979	y	y	splicing	DSG2(NM_001943:exon12:c.1879+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1879+1G>A)	.	.	0.999970205305079	0.936
18	29118942	G	C	18	31538979	y	y	splicing	DSG2(NM_001943:exon12:c.1879+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1879+1G>C)	.	.	0.999976475802857	0.91
18	29118942	G	T	18	31538979	y	y	splicing	DSG2(NM_001943:exon12:c.1879+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1879+1G>T)	.	.	0.999960597114489	0.904
18	29118943	T	A	18	31538980	y	y	splicing	DSG2(NM_001943:exon12:c.1879+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1879+2T>A)	.	.	0.999951957019574	0.898
18	29118943	T	C	18	31538980	y	y	splicing	DSG2(NM_001943:exon12:c.1879+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1879+2T>C)	.	.	0.97696934679441	0.648
18	29118943	T	G	18	31538980	y	y	splicing	DSG2(NM_001943:exon12:c.1879+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon12:c.1879+2T>G)	.	.	0.999971317418422	0.9
18	29118944	A	C	18	31538981	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997929776653264	0.818
18	29118944	A	G	18	31538981	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00184451295304357	0.062
18	29118944	A	T	18	31538981	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997441644180535	0.776
18	29118945	A	C	18	31538982	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.983204879228296	0.698
18	29118945	A	G	18	31538982	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.996255284420322	0.86
18	29118945	A	T	18	31538982	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.978291120752438	0.752
18	29118946	G	A	18	31538983	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999986114394659	0.96
18	29118946	G	C	18	31538983	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999961370985918	0.932
18	29118946	G	T	18	31538983	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999995308362077	0.984
18	29118947	T	A	18	31538984	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.989762557443317	0.708
18	29118947	T	C	18	31538984	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.965669676765813	0.66
18	29118947	T	G	18	31538984	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.785291022137532	0.628
18	29118948	C	A	18	31538985	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.15740316660532E-5	0.0
18	29118948	C	G	18	31538985	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.07301640777766E-5	0.0
18	29118948	C	T	18	31538985	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.96855204803014E-5	0.0
18	29118949	T	A	18	31538986	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.63159559621088E-4	0.018
18	29118949	T	C	18	31538986	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00100976291412683	0.016
18	29118949	T	G	18	31538986	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.56687067058166E-4	0.016
18	29121144	G	A	18	31541181	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0040120338982649	0.178
18	29121144	G	C	18	31541181	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.08344544760443E-4	0.0
18	29121144	G	T	18	31541181	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.22028274796929E-4	0.024
18	29121145	T	A	18	31541182	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.99996473954776	0.976
18	29121145	T	C	18	31541182	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00807392606486575	0.198
18	29121145	T	G	18	31541182	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.743588107593044	0.482
18	29121146	G	A	18	31541183	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00171983274054951	0.084
18	29121146	G	C	18	31541183	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.13457672688541E-4	0.004
18	29121146	G	T	18	31541183	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.22028274796929E-4	0.024
18	29121147	T	A	18	31541184	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.83161581949815	0.564
18	29121147	T	C	18	31541184	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00419138395513487	0.086
18	29121147	T	G	18	31541184	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.713500420499078	0.576
18	29121148	C	A	18	31541185	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0255313386140037	0.118
18	29121148	C	G	18	31541185	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.79335878291656E-4	0.046
18	29121148	C	T	18	31541185	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	7.2892363280603E-5	0.02
18	29121149	T	A	18	31541186	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.999931195724327	0.996
18	29121149	T	C	18	31541186	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.88004987056193E-4	0.008
18	29121149	T	G	18	31541186	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0399511929963649	0.318
18	29121150	G	A	18	31541187	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.90306369039892E-4	0.032
18	29121150	G	C	18	31541187	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.29975059230148E-4	0.006
18	29121150	G	T	18	31541187	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.45805826395487E-4	0.042
18	29121151	T	A	18	31541188	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.139477328793494	0.426
18	29121151	T	C	18	31541188	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	3.21010796320171E-4	0.052
18	29121151	T	G	18	31541188	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.139477328793494	0.426
18	29121152	A	C	18	31541189	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.46542941632024E-5	0.02
18	29121152	A	G	18	31541189	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.64527958879012E-4	0.088
18	29121152	A	T	18	31541189	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	4.89091596127652E-5	0.012
18	29121153	C	A	18	31541190	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.937127033405767	0.718
18	29121153	C	G	18	31541190	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.998633299565685	0.716
18	29121153	C	T	18	31541190	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00132495012917615	0.046
18	29121154	A	C	18	31541191	y	y	splicing	DSG2(NM_001943:exon13:c.1880-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.1880-2A>C)	.	.	0.999965314197099	0.89
18	29121154	A	G	18	31541191	y	y	splicing	DSG2(NM_001943:exon13:c.1880-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.1880-2A>G)	.	.	0.999965314197099	0.886
18	29121154	A	T	18	31541191	y	y	splicing	DSG2(NM_001943:exon13:c.1880-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.1880-2A>T)	.	.	0.999969393053703	0.916
18	29121155	G	A	18	31541192	y	y	splicing	DSG2(NM_001943:exon13:c.1880-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.1880-1G>A)	.	.	0.999973459734236	0.922
18	29121155	G	C	18	31541192	y	y	splicing	DSG2(NM_001943:exon13:c.1880-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.1880-1G>C)	.	.	0.999974234781627	0.896
18	29121155	G	T	18	31541192	y	y	splicing	DSG2(NM_001943:exon13:c.1880-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.1880-1G>T)	.	.	0.999974897514512	0.92
18	29121156	T	A	18	31541193	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon13:c.T1880A:p.L627X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000261590:exon13:c.T1880A:p.L627X;	0.803510025982673	0.748
18	29121156	T	C	18	31541193	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.T1880C:p.L627S;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.T1880C:p.L627S;	0.413355163525693	0.35
18	29121156	T	G	18	31541193	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.T1880G:p.L627W;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.T1880G:p.L627W;	0.0969722294881275	0.3
18	29121157	G	A	18	31541194	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon13:c.G1881A:p.L627L;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.G1881A:p.L627L;	1.34704569563237E-4	0.008
18	29121157	G	C	18	31541194	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1881C:p.L627F;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.G1881C:p.L627F;	8.02094170165254E-5	0.012
18	29121157	G	T	18	31541194	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1881T:p.L627F;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.G1881T:p.L627F;	3.46119839738813E-5	0.0
18	29121275	A	C	18	31541312	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.A1999C:p.K667Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.A1999C:p.K667Q;	0.972603643119271	0.734
18	29121275	A	G	18	31541312	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.A1999G:p.K667E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.A1999G:p.K667E;	0.849977501389352	0.548
18	29121275	A	T	18	31541312	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon13:c.A1999T:p.K667X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000261590:exon13:c.A1999T:p.K667X;	0.980226060750701	0.76
18	29121276	A	C	18	31541313	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.A2000C:p.K667T;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.A2000C:p.K667T;	0.999502153841111	0.982
18	29121276	A	G	18	31541313	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.A2000G:p.K667R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.A2000G:p.K667R;	0.996892105727996	0.948
18	29121276	A	T	18	31541313	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.A2000T:p.K667M;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.A2000T:p.K667M;	0.999825685843687	0.994
18	29121277	G	A	18	31541314	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon13:c.G2001A:p.K667K;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.G2001A:p.K667K;	0.999968502210308	0.996
18	29121277	G	C	18	31541314	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G2001C:p.K667N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.G2001C:p.K667N;	0.999995735644287	0.998
18	29121277	G	T	18	31541314	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G2001T:p.K667N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon13:c.G2001T:p.K667N;	0.999990601735239	1.0
18	29121278	G	A	18	31541315	y	y	splicing	DSG2(NM_001943:exon13:c.2001+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.2001+1G>A)	.	.	0.999990361384395	0.938
18	29121278	G	C	18	31541315	y	y	splicing	DSG2(NM_001943:exon13:c.2001+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.2001+1G>C)	.	.	0.999990361384395	0.938
18	29121278	G	T	18	31541315	y	y	splicing	DSG2(NM_001943:exon13:c.2001+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.2001+1G>T)	.	.	0.999990361384395	0.938
18	29121279	T	A	18	31541316	y	y	splicing	DSG2(NM_001943:exon13:c.2001+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.2001+2T>A)	.	.	0.999988247793601	0.932
18	29121279	T	C	18	31541316	y	y	splicing	DSG2(NM_001943:exon13:c.2001+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.2001+2T>C)	.	.	0.99300144780371	0.712
18	29121279	T	G	18	31541316	y	y	splicing	DSG2(NM_001943:exon13:c.2001+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon13:c.2001+2T>G)	.	.	0.999978952611685	0.934
18	29121280	C	A	18	31541317	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	6.31648193234462E-4	0.064
18	29121280	C	G	18	31541317	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	8.85894980497057E-4	0.078
18	29121280	C	T	18	31541317	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	9.04018050187004E-4	0.06
18	29121281	A	C	18	31541318	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.790875036667246	0.56
18	29121281	A	G	18	31541318	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.177822374006713	0.318
18	29121281	A	T	18	31541318	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.613193851977579	0.488
18	29121282	G	A	18	31541319	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997286998583872	0.894
18	29121282	G	C	18	31541319	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.997743839489736	0.734
18	29121282	G	T	18	31541319	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.9979480652603	0.776
18	29121283	T	A	18	31541320	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0171925973568671	0.084
18	29121283	T	C	18	31541320	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.0122665945112696	0.104
18	29121283	T	G	18	31541320	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	0.00639212334783961	0.162
18	29121284	G	A	18	31541321	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.23990983271071E-5	0.0
18	29121284	G	C	18	31541321	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.75867059633341E-5	0.0
18	29121284	G	T	18	31541321	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	5.42779954745905E-5	0.0
18	29121285	G	A	18	31541322	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	2.56047978853609E-5	0.018
18	29121285	G	C	18	31541322	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.3459298405084E-5	0.004
18	29121285	G	T	18	31541322	y	y	intronic	DSG2	.	.	intronic	ENSG00000046604	.	.	1.65764920945944E-5	0.004
18	29122471	T	A	18	31542508	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00391822607963194	0.076
18	29122471	T	C	18	31542508	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.26581355555156E-4	0.004
18	29122471	T	G	18	31542508	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00386917856591094	0.09
18	29122472	T	A	18	31542509	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.999881058074721	0.958
18	29122472	T	C	18	31542509	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00635399113005449	0.144
18	29122472	T	G	18	31542509	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.122888324731403	0.46
18	29122473	G	A	18	31542510	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.11832032142968E-4	0.014
18	29122473	G	C	18	31542510	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.16029361153689E-4	0.0
18	29122473	G	T	18	31542510	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	5.92542317647205E-5	0.0
18	29122474	C	A	18	31542511	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.44406482928617E-4	0.008
18	29122474	C	G	18	31542511	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.40465483968863E-4	0.006
18	29122474	C	T	18	31542511	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	5.72617357001681E-5	0.0
18	29122475	T	A	18	31542512	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0141061794789841	0.194
18	29122475	T	C	18	31542512	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	5.40490312848658E-5	0.002
18	29122475	T	G	18	31542512	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00378382337441469	0.178
18	29122476	C	A	18	31542513	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00583212986197581	0.11
18	29122476	C	G	18	31542513	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00525173944249371	0.128
18	29122476	C	T	18	31542513	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	3.0583551720638E-4	0.024
18	29122477	T	A	18	31542514	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00707527809771888	0.224
18	29122477	T	C	18	31542514	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	9.5094667425385E-5	0.0
18	29122477	T	G	18	31542514	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0107594458032142	0.278
18	29122478	C	A	18	31542515	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	5.70961370477312E-4	0.022
18	29122478	C	G	18	31542515	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	5.28438092579584E-4	0.048
18	29122478	C	T	18	31542515	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	4.05556000129284E-5	0.0
18	29122479	A	C	18	31542516	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.88346538912363E-4	0.016
18	29122479	A	G	18	31542516	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.70429032873737E-4	0.004
18	29122479	A	T	18	31542516	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.90757246106876E-5	0.004
18	29122480	C	A	18	31542517	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.594873271037112	0.574
18	29122480	C	G	18	31542517	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.998618143887582	0.954
18	29122480	C	T	18	31542517	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0186354481915617	0.142
18	29122481	A	C	18	31542518	y	y	splicing	DSG2(NM_001943:exon14:c.2002-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2002-2A>C)	.	.	0.999988247793601	0.928
18	29122481	A	G	18	31542518	y	y	splicing	DSG2(NM_001943:exon14:c.2002-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2002-2A>G)	.	.	0.999988247793601	0.928
18	29122481	A	T	18	31542518	y	y	splicing	DSG2(NM_001943:exon14:c.2002-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2002-2A>T)	.	.	0.999988247793601	0.922
18	29122482	G	A	18	31542519	y	y	splicing	DSG2(NM_001943:exon14:c.2002-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2002-1G>A)	.	.	0.999990361384395	0.936
18	29122482	G	C	18	31542519	y	y	splicing	DSG2(NM_001943:exon14:c.2002-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2002-1G>C)	.	.	0.999990361384395	0.938
18	29122482	G	T	18	31542519	y	y	splicing	DSG2(NM_001943:exon14:c.2002-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2002-1G>T)	.	.	0.999990361384395	0.938
18	29122483	G	A	18	31542520	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.G2002A:p.V668M;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.G2002A:p.V668M;	0.0171233585333276	0.262
18	29122483	G	C	18	31542520	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.G2002C:p.V668L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.G2002C:p.V668L;	0.0700805275710042	0.518
18	29122483	G	T	18	31542520	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.G2002T:p.V668L;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.G2002T:p.V668L;	0.741626616173006	0.67
18	29122484	T	A	18	31542521	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.T2003A:p.V668E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.T2003A:p.V668E;	9.15071907766527E-4	0.08
18	29122484	T	C	18	31542521	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.T2003C:p.V668A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.T2003C:p.V668A;	0.00232503561979575	0.148
18	29122484	T	G	18	31542521	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.T2003G:p.V668G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.T2003G:p.V668G;	0.0041861598149185	0.086
18	29122813	G	A	18	31542850	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.G2332A:p.D778N;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.G2332A:p.D778N;	0.453247777135073	0.6
18	29122813	G	C	18	31542850	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.G2332C:p.D778H;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.G2332C:p.D778H;	0.453247777135073	0.614
18	29122813	G	T	18	31542850	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.G2332T:p.D778Y;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.G2332T:p.D778Y;	0.502251172205691	0.532
18	29122814	A	C	18	31542851	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.A2333C:p.D778A;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.A2333C:p.D778A;	0.999780987891164	0.988
18	29122814	A	G	18	31542851	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.A2333G:p.D778G;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.A2333G:p.D778G;	0.999819945992582	0.998
18	29122814	A	T	18	31542851	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.A2333T:p.D778V;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.A2333T:p.D778V;	0.999690311823851	0.99
18	29122815	T	A	18	31542852	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.T2334A:p.D778E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.T2334A:p.D778E;	1.07916756249884E-4	0.022
18	29122815	T	C	18	31542852	y	y	exonic	DSG2	synonymous SNV	DSG2:NM_001943:exon14:c.T2334C:p.D778D;	exonic	ENSG00000046604	synonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.T2334C:p.D778D;	9.75350218128571E-4	0.196
18	29122815	T	G	18	31542852	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon14:c.T2334G:p.D778E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon14:c.T2334G:p.D778E;	2.04163492266488E-4	0.072
18	29122816	G	A	18	31542853	y	y	splicing	DSG2(NM_001943:exon14:c.2334+1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2334+1G>A)	.	.	0.999990361384395	0.938
18	29122816	G	C	18	31542853	y	y	splicing	DSG2(NM_001943:exon14:c.2334+1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2334+1G>C)	.	.	0.999990361384395	0.938
18	29122816	G	T	18	31542853	y	y	splicing	DSG2(NM_001943:exon14:c.2334+1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2334+1G>T)	.	.	0.999990361384395	0.938
18	29122817	T	A	18	31542854	y	y	splicing	DSG2(NM_001943:exon14:c.2334+2T>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2334+2T>A)	.	.	0.999988247793601	0.93
18	29122817	T	C	18	31542854	y	y	splicing	DSG2(NM_001943:exon14:c.2334+2T>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2334+2T>C)	.	.	0.995320650369382	0.696
18	29122817	T	G	18	31542854	y	y	splicing	DSG2(NM_001943:exon14:c.2334+2T>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon14:c.2334+2T>G)	.	.	0.999988247793601	0.93
18	29122818	A	C	18	31542855	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.999902206376601	0.948
18	29122818	A	G	18	31542855	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.95900766193987	0.692
18	29122818	A	T	18	31542855	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.999872407354941	0.928
18	29122819	A	C	18	31542856	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.997994458531876	0.954
18	29122819	A	G	18	31542856	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.999659333504073	0.958
18	29122819	A	T	18	31542856	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.997325025513399	0.908
18	29122820	G	A	18	31542857	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.999973848229537	1.0
18	29122820	G	C	18	31542857	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.995926892038453	0.744
18	29122820	G	T	18	31542857	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.999978366794568	0.994
18	29122821	G	A	18	31542858	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.4865868381695E-4	0.012
18	29122821	G	C	18	31542858	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	4.3706279843118E-4	0.112
18	29122821	G	T	18	31542858	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.18934294397092E-4	0.046
18	29122822	A	C	18	31542859	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	5.79826504211729E-5	0.006
18	29122822	A	G	18	31542859	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	5.11087403071293E-5	0.008
18	29122822	A	T	18	31542859	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	4.86891965540709E-4	0.096
18	29122823	T	A	18	31542860	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.55982226442693E-4	0.022
18	29122823	T	C	18	31542860	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.39224926715315E-4	0.0
18	29122823	T	G	18	31542860	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.24249946158994E-4	0.0
18	29125672	T	A	18	31545709	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0085084042313216	0.268
18	29125672	T	C	18	31545709	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	4.84247104236258E-4	0.004
18	29125672	T	G	18	31545709	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00393667312835601	0.262
18	29125673	T	A	18	31545710	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0528954217427962	0.4
18	29125673	T	C	18	31545710	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00268981103157106	0.092
18	29125673	T	G	18	31545710	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0551373088453044	0.376
18	29125674	T	A	18	31545711	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00142607880652582	0.072
18	29125674	T	C	18	31545711	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	4.90503755958869E-5	0.0
18	29125674	T	G	18	31545711	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00267875622013185	0.062
18	29125675	T	A	18	31545712	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0031374722223363	0.236
18	29125675	T	C	18	31545712	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	7.37616313893032E-5	0.004
18	29125675	T	G	18	31545712	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0017272316227348	0.212
18	29125676	C	A	18	31545713	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.01937971618713E-4	0.03
18	29125676	C	G	18	31545713	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	5.23782249502761E-5	0.014
18	29125676	C	T	18	31545713	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	3.25809243038596E-5	0.0
18	29125677	A	C	18	31545714	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.29128565206924E-5	0.004
18	29125677	A	G	18	31545714	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	3.71664094491433E-5	0.002
18	29125677	A	T	18	31545714	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	2.31382295569201E-5	0.0
18	29125678	T	A	18	31545715	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00256799848787453	0.414
18	29125678	T	C	18	31545715	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	3.61898081993509E-5	0.004
18	29125678	T	G	18	31545715	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.998310329261931	0.968
18	29125679	T	A	18	31545716	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.56195146620145	0.452
18	29125679	T	C	18	31545716	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.00807861720554297	0.106
18	29125679	T	G	18	31545716	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.637283616018991	0.456
18	29125680	T	A	18	31545717	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	8.86457517216589E-5	0.008
18	29125680	T	C	18	31545717	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	4.44578773878802E-5	0.008
18	29125680	T	G	18	31545717	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.18432757133338E-4	0.006
18	29125681	T	A	18	31545718	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.0176720934653536	0.174
18	29125681	T	C	18	31545718	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	1.02516202946664E-4	0.042
18	29125681	T	G	18	31545718	y	y	ncRNA_intronic	RP11-75N4.2	.	.	ncRNA_intronic	ENSG00000264859	.	.	0.969225020590211	0.648
18	29125682	A	C	18	31545719	y	y	splicing	DSG2(NM_001943:exon15:c.2335-2A>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon15:c.2335-2A>C)	.	.	0.999946188727699	0.946
18	29125682	A	G	18	31545719	y	y	splicing	DSG2(NM_001943:exon15:c.2335-2A>G)	.	.	splicing	ENSG00000046604(ENST00000261590:exon15:c.2335-2A>G)	.	.	0.999946188727699	0.946
18	29125682	A	T	18	31545719	y	y	splicing	DSG2(NM_001943:exon15:c.2335-2A>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon15:c.2335-2A>T)	.	.	0.99994568797423	0.946
18	29125683	G	A	18	31545720	y	y	splicing	DSG2(NM_001943:exon15:c.2335-1G>A)	.	.	splicing	ENSG00000046604(ENST00000261590:exon15:c.2335-1G>A)	.	.	0.99995545544995	0.944
18	29125683	G	C	18	31545720	y	y	splicing	DSG2(NM_001943:exon15:c.2335-1G>C)	.	.	splicing	ENSG00000046604(ENST00000261590:exon15:c.2335-1G>C)	.	.	0.99995545544995	0.948
18	29125683	G	T	18	31545720	y	y	splicing	DSG2(NM_001943:exon15:c.2335-1G>T)	.	.	splicing	ENSG00000046604(ENST00000261590:exon15:c.2335-1G>T)	.	.	0.99995545544995	0.948
18	29125684	A	C	18	31545721	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon15:c.A2335C:p.K779Q;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon15:c.A2335C:p.K779Q;	0.627824216129723	0.652
18	29125684	A	G	18	31545721	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon15:c.A2335G:p.K779E;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon15:c.A2335G:p.K779E;	0.652656369967121	0.646
18	29125684	A	T	18	31545721	y	y	exonic	DSG2	stopgain SNV	DSG2:NM_001943:exon15:c.A2335T:p.K779X;	exonic	ENSG00000046604	stopgain SNV	ENSG00000046604:ENST00000261590:exon15:c.A2335T:p.K779X;	0.594326761068794	0.666
18	29125685	A	C	18	31545722	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon15:c.A2336C:p.K779T;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon15:c.A2336C:p.K779T;	0.912270505499085	0.756
18	29125685	A	G	18	31545722	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon15:c.A2336G:p.K779R;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon15:c.A2336G:p.K779R;	0.911775483076412	0.456
18	29125685	A	T	18	31545722	y	y	exonic	DSG2	nonsynonymous SNV	DSG2:NM_001943:exon15:c.A2336T:p.K779I;	exonic	ENSG00000046604	nonsynonymous SNV	ENSG00000046604:ENST00000261590:exon15:c.A2336T:p.K779I;	0.855981211511956	0.708
18	29171932	A	C	18	31591969	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon1:c.A67C:p.T23P;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.A67C:p.T23P;	1.8914481678375E-5	0.0
18	29171932	A	G	18	31591969	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon1:c.A67G:p.T23A;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.A67G:p.T23A;	2.32878507963315E-5	0.01
18	29171932	A	T	18	31591969	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon1:c.A67T:p.T23S;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.A67T:p.T23S;	7.20097527208157E-5	0.062
18	29171933	C	A	18	31591970	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon1:c.C68A:p.T23K;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.C68A:p.T23K;	2.50610705764048E-5	0.038
18	29171933	C	G	18	31591970	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon1:c.C68G:p.T23R;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.C68G:p.T23R;	6.63513355902544E-4	0.056
18	29171933	C	T	18	31591970	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon1:c.C68T:p.T23M;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.C68T:p.T23M;	6.93461863329422E-4	0.034
18	29171934	G	A	18	31591971	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon1:c.G69A:p.T23T;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.G69A:p.T23T;	0.981886189305583	0.592
18	29171934	G	C	18	31591971	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon1:c.G69C:p.T23T;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.G69C:p.T23T;	0.996778871125958	0.694
18	29171934	G	T	18	31591971	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon1:c.G69T:p.T23T;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon1:c.G69T:p.T23T;	0.995900656550707	0.834
18	29171935	G	A	18	31591972	y	y	splicing	TTR(NM_000371:exon1:c.69+1G>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon1:c.69+1G>A)	.	.	0.999973328973086	0.906
18	29171935	G	C	18	31591972	y	y	splicing	TTR(NM_000371:exon1:c.69+1G>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon1:c.69+1G>C)	.	.	0.999973328973086	0.9
18	29171935	G	T	18	31591972	y	y	splicing	TTR(NM_000371:exon1:c.69+1G>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon1:c.69+1G>T)	.	.	0.999973328973086	0.904
18	29171936	T	A	18	31591973	y	y	splicing	TTR(NM_000371:exon1:c.69+2T>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon1:c.69+2T>A)	.	.	0.999971317418422	0.898
18	29171936	T	C	18	31591973	y	y	splicing	TTR(NM_000371:exon1:c.69+2T>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon1:c.69+2T>C)	.	.	0.999815442824341	0.822
18	29171936	T	G	18	31591973	y	y	splicing	TTR(NM_000371:exon1:c.69+2T>G)	.	.	splicing	ENSG00000118271(ENST00000237014:exon1:c.69+2T>G)	.	.	0.999971317418422	0.896
18	29171937	G	A	18	31591974	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.54533498310391E-5	0.0
18	29171937	G	C	18	31591974	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0340242103836475	0.27
18	29171937	G	T	18	31591974	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0333845012036875	0.262
18	29171938	A	C	18	31591975	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.94011049488293	0.588
18	29171938	A	G	18	31591975	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.940983231319276	0.702
18	29171938	A	T	18	31591975	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.989442087966433	0.768
18	29171939	G	A	18	31591976	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999916757162343	0.958
18	29171939	G	C	18	31591976	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999864470885871	0.904
18	29171939	G	T	18	31591976	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999584735461545	0.924
18	29171940	T	A	18	31591977	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0331845103674429	0.178
18	29171940	T	C	18	31591977	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0090701096418268	0.228
18	29171940	T	G	18	31591977	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00354688099708196	0.15
18	29171941	G	A	18	31591978	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	7.64715185626536E-5	0.002
18	29171941	G	C	18	31591978	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	7.64715185626536E-5	0.004
18	29171941	G	T	18	31591978	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	7.82685551969961E-5	0.002
18	29171942	T	A	18	31591979	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.66788996267205E-5	0.0
18	29171942	T	C	18	31591979	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	3.53373032695655E-5	0.01
18	29171942	T	G	18	31591979	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	4.95174911109363E-5	0.012
18	29172847	C	A	18	31592884	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0164489778527899	0.098
18	29172847	C	G	18	31592884	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0092823128473729	0.106
18	29172847	C	T	18	31592884	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00102927748886634	0.004
18	29172848	T	A	18	31592885	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.580488168186494	0.418
18	29172848	T	C	18	31592885	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0063459091314679	0.11
18	29172848	T	G	18	31592885	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.729486190912768	0.426
18	29172849	C	A	18	31592886	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	7.86361444054634E-4	0.08
18	29172849	C	G	18	31592886	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00176684459234712	0.066
18	29172849	C	T	18	31592886	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	9.00423168819127E-5	0.0
18	29172850	T	A	18	31592887	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00229899834561921	0.072
18	29172850	T	C	18	31592887	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.08205928522213E-4	0.068
18	29172850	T	G	18	31592887	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0040182545723817	0.096
18	29172851	A	C	18	31592888	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.75882530708688E-5	0.004
18	29172851	A	G	18	31592888	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.5083270219904E-5	0.002
18	29172851	A	T	18	31592888	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.58008188215659E-5	0.0
18	29172852	C	A	18	31592889	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.03545643495744E-4	0.05
18	29172852	C	G	18	31592889	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.988793792726978	0.532
18	29172852	C	T	18	31592889	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	3.19308245999366E-5	0.0
18	29172853	A	C	18	31592890	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.36987680177456E-5	0.01
18	29172853	A	G	18	31592890	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	3.40396158988615E-5	0.0
18	29172853	A	T	18	31592890	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.15289420264783E-5	0.0
18	29172854	C	A	18	31592891	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.46997355298137E-4	0.088
18	29172854	C	G	18	31592891	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999455797459839	0.97
18	29172854	C	T	18	31592891	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	4.75553279837253E-5	0.0
18	29172855	C	A	18	31592892	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	3.25020540817349E-5	0.0
18	29172855	C	G	18	31592892	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.25613352897422E-4	0.012
18	29172855	C	T	18	31592892	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.98016667682798E-5	0.0
18	29172856	C	A	18	31592893	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.991148524352251	0.844
18	29172856	C	G	18	31592893	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999739835084602	0.956
18	29172856	C	T	18	31592893	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0502654278562998	0.116
18	29172857	A	C	18	31592894	y	y	splicing	TTR(NM_000371:exon2:c.70-2A>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.70-2A>C)	.	.	0.99994568797423	0.928
18	29172857	A	G	18	31592894	y	y	splicing	TTR(NM_000371:exon2:c.70-2A>G)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.70-2A>G)	.	.	0.99994568797423	0.928
18	29172857	A	T	18	31592894	y	y	splicing	TTR(NM_000371:exon2:c.70-2A>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.70-2A>T)	.	.	0.99994568797423	0.924
18	29172858	G	A	18	31592895	y	y	splicing	TTR(NM_000371:exon2:c.70-1G>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.70-1G>A)	.	.	0.999952286258862	0.868
18	29172858	G	C	18	31592895	y	y	splicing	TTR(NM_000371:exon2:c.70-1G>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.70-1G>C)	.	.	0.999942513266374	0.852
18	29172858	G	T	18	31592895	y	y	splicing	TTR(NM_000371:exon2:c.70-1G>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.70-1G>T)	.	.	0.999952286258862	0.856
18	29172859	G	A	18	31592896	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G70A:p.G24S;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G70A:p.G24S;	0.999439833478873	0.888
18	29172859	G	C	18	31592896	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G70C:p.G24R;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G70C:p.G24R;	0.999738982357254	0.988
18	29172859	G	T	18	31592896	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G70T:p.G24C;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G70T:p.G24C;	0.999844896652711	0.992
18	29172860	G	A	18	31592897	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G71A:p.G24D;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G71A:p.G24D;	0.0607495431587569	0.416
18	29172860	G	C	18	31592897	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G71C:p.G24A;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G71C:p.G24A;	0.00356537029303028	0.202
18	29172860	G	T	18	31592897	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G71T:p.G24V;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G71T:p.G24V;	0.0132797534457701	0.156
18	29172987	T	A	18	31593024	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon2:c.T198A:p.S66S;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.T198A:p.S66S;	2.38370798046945E-5	0.004
18	29172987	T	C	18	31593024	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon2:c.T198C:p.S66S;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.T198C:p.S66S;	2.38370798046945E-5	0.012
18	29172987	T	G	18	31593024	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon2:c.T198G:p.S66S;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.T198G:p.S66S;	4.54291625025933E-5	0.06
18	29172988	G	A	18	31593025	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G199A:p.G67R;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G199A:p.G67R;	0.969705980846728	0.642
18	29172988	G	C	18	31593025	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G199C:p.G67R;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G199C:p.G67R;	0.993733916693694	0.81
18	29172988	G	T	18	31593025	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G199T:p.G67W;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G199T:p.G67W;	0.991269278563924	0.772
18	29172989	G	A	18	31593026	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G200A:p.G67E;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G200A:p.G67E;	0.999903614904841	0.914
18	29172989	G	C	18	31593026	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G200C:p.G67A;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G200C:p.G67A;	0.999954370749224	0.946
18	29172989	G	T	18	31593026	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon2:c.G200T:p.G67V;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon2:c.G200T:p.G67V;	0.999919716365009	0.884
18	29172990	G	A	18	31593027	y	y	splicing	TTR(NM_000371:exon2:c.200+1G>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.200+1G>A)	.	.	0.99995586615188	0.94
18	29172990	G	C	18	31593027	y	y	splicing	TTR(NM_000371:exon2:c.200+1G>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.200+1G>C)	.	.	0.999971209564868	0.938
18	29172990	G	T	18	31593027	y	y	splicing	TTR(NM_000371:exon2:c.200+1G>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.200+1G>T)	.	.	0.999971209564868	0.938
18	29172991	T	A	18	31593028	y	y	splicing	TTR(NM_000371:exon2:c.200+2T>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.200+2T>A)	.	.	0.999964896440643	0.934
18	29172991	T	C	18	31593028	y	y	splicing	TTR(NM_000371:exon2:c.200+2T>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.200+2T>C)	.	.	0.979246769799723	0.66
18	29172991	T	G	18	31593028	y	y	splicing	TTR(NM_000371:exon2:c.200+2T>G)	.	.	splicing	ENSG00000118271(ENST00000237014:exon2:c.200+2T>G)	.	.	0.999963671976247	0.918
18	29172992	A	C	18	31593029	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.972325808064848	0.672
18	29172992	A	G	18	31593029	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	4.13858418880214E-4	0.008
18	29172992	A	T	18	31593029	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.985347030918972	0.682
18	29172993	A	C	18	31593030	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.492455545259814	0.526
18	29172993	A	G	18	31593030	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.764277227704195	0.666
18	29172993	A	T	18	31593030	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.632717195692378	0.504
18	29172994	G	A	18	31593031	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999376336343511	0.942
18	29172994	G	C	18	31593031	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999930690735671	0.914
18	29172994	G	T	18	31593031	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999845967920604	0.86
18	29172995	T	A	18	31593032	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	6.79658942904707E-4	0.06
18	29172995	T	C	18	31593032	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00135641965981969	0.058
18	29172995	T	G	18	31593032	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.62373495347515E-4	0.046
18	29172996	T	A	18	31593033	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.8022328119087E-5	0.0
18	29172996	T	C	18	31593033	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.8022328119087E-5	0.0
18	29172996	T	G	18	31593033	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	4.22800136258938E-5	0.0
18	29172997	G	A	18	31593034	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	9.60444966356143E-5	0.002
18	29172997	G	C	18	31593034	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.66239392785878E-5	0.002
18	29172997	G	T	18	31593034	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	8.13830726853986E-5	0.002
18	29175071	C	A	18	31595108	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00278328531827999	0.054
18	29175071	C	G	18	31595108	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00148721032710469	0.042
18	29175071	C	T	18	31595108	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.15388622863069E-5	0.056
18	29175072	A	C	18	31595109	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.25710312588738E-4	0.004
18	29175072	A	G	18	31595109	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	8.49510430556061E-5	0.0
18	29175072	A	T	18	31595109	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.64095046460453E-4	0.138
18	29175073	C	A	18	31595110	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.74455347969444E-4	0.016
18	29175073	C	G	18	31595110	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.995876087041076	0.956
18	29175073	C	T	18	31595110	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.65096955710674E-5	0.0
18	29175074	A	C	18	31595111	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.36847252657624E-5	0.0
18	29175074	A	G	18	31595111	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.15964998098396E-4	0.004
18	29175074	A	T	18	31595111	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.4025672634296E-5	0.0
18	29175075	C	A	18	31595112	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0267341518817577	0.16
18	29175075	C	G	18	31595112	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.99990488089701	0.986
18	29175075	C	T	18	31595112	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.84898421907674E-4	0.002
18	29175076	C	A	18	31595113	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00427231871179893	0.112
18	29175076	C	G	18	31595113	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00879586878957032	0.204
18	29175076	C	T	18	31595113	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	8.24186004297237E-5	0.008
18	29175077	T	A	18	31595114	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.105602230494543	0.388
18	29175077	T	C	18	31595114	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.02776029770965E-4	0.0
18	29175077	T	G	18	31595114	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.380980586564192	0.416
18	29175078	T	A	18	31595115	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.930266519141242	0.716
18	29175078	T	C	18	31595115	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00362639490142127	0.028
18	29175078	T	G	18	31595115	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.964855371402597	0.67
18	29175079	A	C	18	31595116	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	4.02795099179524E-5	0.0
18	29175079	A	G	18	31595116	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	9.55672728699713E-5	0.0
18	29175079	A	T	18	31595116	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.78364279256189E-5	0.004
18	29175080	T	A	18	31595117	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00585926439534475	0.216
18	29175080	T	C	18	31595117	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	8.7197311136253E-5	0.006
18	29175080	T	G	18	31595117	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.98507869376866	0.75
18	29175081	A	C	18	31595118	y	y	splicing	TTR(NM_000371:exon3:c.201-2A>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.201-2A>C)	.	.	0.999639164250855	0.83
18	29175081	A	G	18	31595118	y	y	splicing	TTR(NM_000371:exon3:c.201-2A>G)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.201-2A>G)	.	.	0.999639164250855	0.828
18	29175081	A	T	18	31595118	y	y	splicing	TTR(NM_000371:exon3:c.201-2A>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.201-2A>T)	.	.	0.999700492436753	0.852
18	29175082	G	A	18	31595119	y	y	splicing	TTR(NM_000371:exon3:c.201-1G>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.201-1G>A)	.	.	0.999990556631883	0.896
18	29175082	G	C	18	31595119	y	y	splicing	TTR(NM_000371:exon3:c.201-1G>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.201-1G>C)	.	.	0.999985267240578	0.846
18	29175082	G	T	18	31595119	y	y	splicing	TTR(NM_000371:exon3:c.201-1G>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.201-1G>T)	.	.	0.999990556631883	0.886
18	29175083	G	A	18	31595120	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon3:c.G201A:p.G67G;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.G201A:p.G67G;	0.0764186245299126	0.382
18	29175083	G	C	18	31595120	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon3:c.G201C:p.G67G;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.G201C:p.G67G;	0.63689976649467	0.544
18	29175083	G	T	18	31595120	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon3:c.G201T:p.G67G;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.G201T:p.G67G;	0.982169235410626	0.666
18	29175084	A	C	18	31595121	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.A202C:p.K68Q;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.A202C:p.K68Q;	1.18421518556134E-4	0.006
18	29175084	A	G	18	31595121	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.A202G:p.K68E;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.A202G:p.K68E;	2.75266598451964E-4	0.06
18	29175084	A	T	18	31595121	y	y	exonic	TTR	stopgain SNV	TTR:NM_000371:exon3:c.A202T:p.K68X;	exonic	ENSG00000118271	stopgain SNV	ENSG00000118271:ENST00000237014:exon3:c.A202T:p.K68X;	0.00390648189427322	0.172
18	29175216	G	A	18	31595253	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.G334A:p.E112K;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.G334A:p.E112K;	0.383297497720888	0.552
18	29175216	G	C	18	31595253	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.G334C:p.E112Q;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.G334C:p.E112Q;	0.313360556596559	0.516
18	29175216	G	T	18	31595253	y	y	exonic	TTR	stopgain SNV	TTR:NM_000371:exon3:c.G334T:p.E112X;	exonic	ENSG00000118271	stopgain SNV	ENSG00000118271:ENST00000237014:exon3:c.G334T:p.E112X;	0.362511498911957	0.566
18	29175217	A	C	18	31595254	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.A335C:p.E112A;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.A335C:p.E112A;	0.971426162147395	0.81
18	29175217	A	G	18	31595254	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.A335G:p.E112G;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.A335G:p.E112G;	0.995707290717578	0.924
18	29175217	A	T	18	31595254	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.A335T:p.E112V;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.A335T:p.E112V;	0.988819659966617	0.662
18	29175218	G	A	18	31595255	y	y	exonic	TTR	synonymous SNV	TTR:NM_000371:exon3:c.G336A:p.E112E;	exonic	ENSG00000118271	synonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.G336A:p.E112E;	0.75401027181723	0.596
18	29175218	G	C	18	31595255	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.G336C:p.E112D;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.G336C:p.E112D;	0.532692245805098	0.666
18	29175218	G	T	18	31595255	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon3:c.G336T:p.E112D;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon3:c.G336T:p.E112D;	0.830387981119686	0.594
18	29175219	G	A	18	31595256	y	y	splicing	TTR(NM_000371:exon3:c.336+1G>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.336+1G>A)	.	.	0.99995545544995	0.926
18	29175219	G	C	18	31595256	y	y	splicing	TTR(NM_000371:exon3:c.336+1G>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.336+1G>C)	.	.	0.99995545544995	0.944
18	29175219	G	T	18	31595256	y	y	splicing	TTR(NM_000371:exon3:c.336+1G>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.336+1G>T)	.	.	0.99995545544995	0.934
18	29175220	T	A	18	31595257	y	y	splicing	TTR(NM_000371:exon3:c.336+2T>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.336+2T>A)	.	.	0.999946188727699	0.944
18	29175220	T	C	18	31595257	y	y	splicing	TTR(NM_000371:exon3:c.336+2T>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.336+2T>C)	.	.	0.999819218655501	0.89
18	29175220	T	G	18	31595257	y	y	splicing	TTR(NM_000371:exon3:c.336+2T>G)	.	.	splicing	ENSG00000118271(ENST00000237014:exon3:c.336+2T>G)	.	.	0.999946188727699	0.938
18	29175221	G	A	18	31595258	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	3.48499498734568E-5	0.0
18	29175221	G	C	18	31595258	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00796419969092797	0.268
18	29175221	G	T	18	31595258	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0133280530896804	0.286
18	29175222	A	C	18	31595259	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0698307880330365	0.398
18	29175222	A	G	18	31595259	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.452581592361353	0.49
18	29175222	A	T	18	31595259	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.802994106313667	0.542
18	29175223	G	A	18	31595260	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999414991720158	0.934
18	29175223	G	C	18	31595260	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999776026154242	0.906
18	29175223	G	T	18	31595260	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.999846007940547	0.904
18	29175224	T	A	18	31595261	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.207415073707197	0.508
18	29175224	T	C	18	31595261	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.040042692315445	0.384
18	29175224	T	G	18	31595261	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00902841278937428	0.272
18	29175225	A	C	18	31595262	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.13327907470643E-5	0.002
18	29175225	A	G	18	31595262	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.48921740173532E-5	0.0
18	29175225	A	T	18	31595262	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.1739642589144E-5	0.0
18	29175226	T	A	18	31595263	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	6.09332237519757E-5	0.0
18	29175226	T	C	18	31595263	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.34169129164581E-5	0.0
18	29175226	T	G	18	31595263	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.34169129164581E-5	0.0
18	29178519	C	A	18	31598556	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.3813657218893E-4	0.032
18	29178519	C	G	18	31598556	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.62998345439806E-4	0.022
18	29178519	C	T	18	31598556	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	4.84046122800355E-5	0.01
18	29178520	T	A	18	31598557	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	7.38142704060084E-5	0.194
18	29178520	T	C	18	31598557	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	3.23177902842391E-5	0.11
18	29178520	T	G	18	31598557	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	9.67109124724953E-5	0.16
18	29178521	T	A	18	31598558	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0228067235886239	0.266
18	29178521	T	C	18	31598558	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00281586067319041	0.028
18	29178521	T	G	18	31598558	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00548787731378891	0.132
18	29178522	C	A	18	31598559	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.131565574200309	0.2
18	29178522	C	G	18	31598559	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.06281716302908	0.202
18	29178522	C	T	18	31598559	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0226208514802671	0.26
18	29178523	T	A	18	31598560	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.65170048865129E-4	0.072
18	29178523	T	C	18	31598560	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	8.60837103651819E-5	0.018
18	29178523	T	G	18	31598560	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	3.18342679552505E-4	0.064
18	29178524	C	A	18	31598561	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	4.06298776022478E-4	0.09
18	29178524	C	G	18	31598561	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	2.98196529311237E-4	0.076
18	29178524	C	T	18	31598561	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.17662171082737E-4	0.006
18	29178525	T	A	18	31598562	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00173968495716878	0.046
18	29178525	T	C	18	31598562	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	9.75288246125927E-5	0.01
18	29178525	T	G	18	31598562	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00215159462784372	0.062
18	29178526	C	A	18	31598563	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.0014031837228723	0.07
18	29178526	C	G	18	31598563	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.00194743361533392	0.068
18	29178526	C	T	18	31598563	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.89254064309698E-4	0.0
18	29178527	A	C	18	31598564	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	1.35846207772088E-5	0.0
18	29178527	A	G	18	31598564	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	5.38928221268413E-5	0.0
18	29178527	A	T	18	31598564	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	4.00133144385296E-5	0.0
18	29178528	T	A	18	31598565	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	6.09165893438683E-4	0.038
18	29178528	T	C	18	31598565	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	6.73362650925305E-5	0.0
18	29178528	T	G	18	31598565	y	y	intronic	TTR	.	.	intronic	ENSG00000118271	.	.	0.288863856939075	0.466
18	29178529	A	C	18	31598566	y	y	splicing	TTR(NM_000371:exon4:c.337-2A>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon4:c.337-2A>C)	.	.	0.999978952611685	0.93
18	29178529	A	G	18	31598566	y	y	splicing	TTR(NM_000371:exon4:c.337-2A>G)	.	.	splicing	ENSG00000118271(ENST00000237014:exon4:c.337-2A>G)	.	.	0.999978952611685	0.93
18	29178529	A	T	18	31598566	y	y	splicing	TTR(NM_000371:exon4:c.337-2A>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon4:c.337-2A>T)	.	.	0.999988247793601	0.928
18	29178530	G	A	18	31598567	y	y	splicing	TTR(NM_000371:exon4:c.337-1G>A)	.	.	splicing	ENSG00000118271(ENST00000237014:exon4:c.337-1G>A)	.	.	0.999989072007339	0.934
18	29178530	G	C	18	31598567	y	y	splicing	TTR(NM_000371:exon4:c.337-1G>C)	.	.	splicing	ENSG00000118271(ENST00000237014:exon4:c.337-1G>C)	.	.	0.999980428708689	0.934
18	29178530	G	T	18	31598567	y	y	splicing	TTR(NM_000371:exon4:c.337-1G>T)	.	.	splicing	ENSG00000118271(ENST00000237014:exon4:c.337-1G>T)	.	.	0.999989072007339	0.934
18	29178531	G	A	18	31598568	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon4:c.G337A:p.V113M;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon4:c.G337A:p.V113M;	0.997604252573955	0.81
18	29178531	G	C	18	31598568	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon4:c.G337C:p.V113L;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon4:c.G337C:p.V113L;	0.999501420978615	0.902
18	29178531	G	T	18	31598568	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon4:c.G337T:p.V113L;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon4:c.G337T:p.V113L;	0.99951803025002	0.916
18	29178532	T	A	18	31598569	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon4:c.T338A:p.V113E;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon4:c.T338A:p.V113E;	0.535200809592976	0.476
18	29178532	T	C	18	31598569	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon4:c.T338C:p.V113A;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon4:c.T338C:p.V113A;	0.510264039029018	0.484
18	29178532	T	G	18	31598569	y	y	exonic	TTR	nonsynonymous SNV	TTR:NM_000371:exon4:c.T338G:p.V113G;	exonic	ENSG00000118271	nonsynonymous SNV	ENSG00000118271:ENST00000237014:exon4:c.T338G:p.V113G;	0.470211540308747	0.442
18	29205723	A	C	18	31625760	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon9:c.T1003G:p.Y335D;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon8:c.T886G:p.Y296D;ENSG00000118276:ENST00000306851:exon9:c.T1003G:p.Y335D;ENSG00000118276:ENST00000383131:exon8:c.T886G:p.Y296D;	0.843308342770232	0.352
18	29205723	A	G	18	31625760	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon9:c.T1003C:p.Y335H;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon8:c.T886C:p.Y296H;ENSG00000118276:ENST00000306851:exon9:c.T1003C:p.Y335H;ENSG00000118276:ENST00000383131:exon8:c.T886C:p.Y296H;	0.803983497435943	0.36
18	29205723	A	T	18	31625760	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon9:c.T1003A:p.Y335N;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon8:c.T886A:p.Y296N;ENSG00000118276:ENST00000306851:exon9:c.T1003A:p.Y335N;ENSG00000118276:ENST00000383131:exon8:c.T886A:p.Y296N;	0.831687187362976	0.38
18	29205724	C	A	18	31625761	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon9:c.G1002T:p.R334R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon8:c.G885T:p.R295R;ENSG00000118276:ENST00000306851:exon9:c.G1002T:p.R334R;ENSG00000118276:ENST00000383131:exon8:c.G885T:p.R295R;	0.896354744327587	0.674
18	29205724	C	G	18	31625761	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon9:c.G1002C:p.R334R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon8:c.G885C:p.R295R;ENSG00000118276:ENST00000306851:exon9:c.G1002C:p.R334R;ENSG00000118276:ENST00000383131:exon8:c.G885C:p.R295R;	0.200423629086186	0.544
18	29205724	C	T	18	31625761	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon9:c.G1002A:p.R334R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon8:c.G885A:p.R295R;ENSG00000118276:ENST00000306851:exon9:c.G1002A:p.R334R;ENSG00000118276:ENST00000383131:exon8:c.G885A:p.R295R;	0.00333169842320242	0.206
18	29205725	C	A	18	31625762	y	y	splicing	B4GALT6(NM_004775:exon10:c.1002-1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon10:c.1002-1G>T;ENST00000237019:exon9:c.885-1G>T;ENST00000383131:exon9:c.885-1G>T)	.	.	0.999987670894945	0.938
18	29205725	C	G	18	31625762	y	y	splicing	B4GALT6(NM_004775:exon10:c.1002-1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon10:c.1002-1G>C;ENST00000237019:exon9:c.885-1G>C;ENST00000383131:exon9:c.885-1G>C)	.	.	0.999977919436194	0.936
18	29205725	C	T	18	31625762	y	y	splicing	B4GALT6(NM_004775:exon10:c.1002-1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon10:c.1002-1G>A;ENST00000237019:exon9:c.885-1G>A;ENST00000383131:exon9:c.885-1G>A)	.	.	0.999987670894945	0.938
18	29205726	T	A	18	31625763	y	y	splicing	B4GALT6(NM_004775:exon10:c.1002-2A>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon10:c.1002-2A>T;ENST00000237019:exon9:c.885-2A>T;ENST00000383131:exon9:c.885-2A>T)	.	.	0.999976254090479	0.936
18	29205726	T	C	18	31625763	y	y	splicing	B4GALT6(NM_004775:exon10:c.1002-2A>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon10:c.1002-2A>G;ENST00000237019:exon9:c.885-2A>G;ENST00000383131:exon9:c.885-2A>G)	.	.	0.99993872479901	0.936
18	29205726	T	G	18	31625763	y	y	splicing	B4GALT6(NM_004775:exon10:c.1002-2A>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon10:c.1002-2A>C;ENST00000237019:exon9:c.885-2A>C;ENST00000383131:exon9:c.885-2A>C)	.	.	0.99993872479901	0.936
18	29205727	A	C	18	31625764	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999403120794778	0.768
18	29205727	A	G	18	31625764	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.8122261712909E-5	0.052
18	29205727	A	T	18	31625764	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.29760272740101	0.422
18	29205728	T	A	18	31625765	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.36178803764235E-5	0.02
18	29205728	T	C	18	31625765	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.63490776709871E-4	0.098
18	29205728	T	G	18	31625765	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.62519487212806E-4	0.154
18	29205729	A	C	18	31625766	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0651546731829133	0.474
18	29205729	A	G	18	31625766	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.45914913152101E-4	0.086
18	29205729	A	T	18	31625766	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0713167506377932	0.472
18	29205730	G	A	18	31625767	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.841524032768E-5	0.004
18	29205730	G	C	18	31625767	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999090981839238	0.916
18	29205730	G	T	18	31625767	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.28181832730627E-4	0.304
18	29205731	T	A	18	31625768	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.52952634430291E-5	0.042
18	29205731	T	C	18	31625768	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.678274595111165	0.428
18	29205731	T	G	18	31625768	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.52952634430291E-5	0.042
18	29205732	T	A	18	31625769	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.32186368474212E-5	0.018
18	29205732	T	C	18	31625769	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.63892705591825	0.432
18	29205732	T	G	18	31625769	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.24867214394113E-5	0.008
18	29205733	T	A	18	31625770	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.71281304330054E-4	0.052
18	29205733	T	C	18	31625770	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998629991475923	0.932
18	29205733	T	G	18	31625770	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.73516800593202E-4	0.024
18	29205734	T	A	18	31625771	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.1107749880066E-5	0.022
18	29205734	T	C	18	31625771	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.87359389793599E-5	0.02
18	29205734	T	G	18	31625771	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.1107749880066E-5	0.004
18	29205735	A	C	18	31625772	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.397937470720515	0.516
18	29205735	A	G	18	31625772	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00572940922359159	0.246
18	29205735	A	T	18	31625772	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.132003360079584	0.536
18	29205736	G	A	18	31625773	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.42982077390183E-5	0.0
18	29205736	G	C	18	31625773	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.96041166940285E-4	0.046
18	29205736	G	T	18	31625773	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.16150280172422E-4	0.036
18	29206238	C	A	18	31626275	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.18897327477459E-4	0.014
18	29206238	C	G	18	31626275	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.24406312353546E-4	0.004
18	29206238	C	T	18	31626275	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.32958553153901E-4	0.006
18	29206239	A	C	18	31626276	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.80257671126134E-4	0.008
18	29206239	A	G	18	31626276	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00229453937441566	0.038
18	29206239	A	T	18	31626276	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00234833731544007	0.01
18	29206240	A	C	18	31626277	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.025531630001511	0.282
18	29206240	A	G	18	31626277	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0420676149404914	0.404
18	29206240	A	T	18	31626277	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0961347089429481	0.366
18	29206241	C	A	18	31626278	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999254192464367	0.876
18	29206241	C	G	18	31626278	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999121612816794	0.85
18	29206241	C	T	18	31626278	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.996882302663265	0.808
18	29206242	T	A	18	31626279	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998041085275132	0.862
18	29206242	T	C	18	31626279	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.995415006771905	0.814
18	29206242	T	G	18	31626279	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.981531564513366	0.838
18	29206243	T	A	18	31626280	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.93065116008847	0.644
18	29206243	T	C	18	31626280	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00224790627473549	0.038
18	29206243	T	G	18	31626280	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.958241725810846	0.706
18	29206244	A	C	18	31626281	y	y	splicing	B4GALT6(NM_004775:exon9:c.1001+2T>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.1001+2T>G;ENST00000237019:exon8:c.884+2T>G;ENST00000383131:exon8:c.884+2T>G)	.	.	0.999988247793601	0.932
18	29206244	A	G	18	31626281	y	y	splicing	B4GALT6(NM_004775:exon9:c.1001+2T>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.1001+2T>C;ENST00000237019:exon8:c.884+2T>C;ENST00000383131:exon8:c.884+2T>C)	.	.	0.99340600729494	0.698
18	29206244	A	T	18	31626281	y	y	splicing	B4GALT6(NM_004775:exon9:c.1001+2T>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.1001+2T>A;ENST00000237019:exon8:c.884+2T>A;ENST00000383131:exon8:c.884+2T>A)	.	.	0.999988247793601	0.932
18	29206245	C	A	18	31626282	y	y	splicing	B4GALT6(NM_004775:exon9:c.1001+1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.1001+1G>T;ENST00000237019:exon8:c.884+1G>T;ENST00000383131:exon8:c.884+1G>T)	.	.	0.999990361384395	0.938
18	29206245	C	G	18	31626282	y	y	splicing	B4GALT6(NM_004775:exon9:c.1001+1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.1001+1G>C;ENST00000237019:exon8:c.884+1G>C;ENST00000383131:exon8:c.884+1G>C)	.	.	0.999990361384395	0.938
18	29206245	C	T	18	31626282	y	y	splicing	B4GALT6(NM_004775:exon9:c.1001+1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.1001+1G>A;ENST00000237019:exon8:c.884+1G>A;ENST00000383131:exon8:c.884+1G>A)	.	.	0.999990361384395	0.938
18	29206246	C	A	18	31626283	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.G1001T:p.R334L;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.G884T:p.R295L;ENSG00000118276:ENST00000306851:exon8:c.G1001T:p.R334L;ENSG00000118276:ENST00000383131:exon7:c.G884T:p.R295L;	0.998133816407929	0.954
18	29206246	C	G	18	31626283	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.G1001C:p.R334P;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.G884C:p.R295P;ENSG00000118276:ENST00000306851:exon8:c.G1001C:p.R334P;ENSG00000118276:ENST00000383131:exon7:c.G884C:p.R295P;	0.997545873694581	0.922
18	29206246	C	T	18	31626283	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.G1001A:p.R334Q;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.G884A:p.R295Q;ENSG00000118276:ENST00000306851:exon8:c.G1001A:p.R334Q;ENSG00000118276:ENST00000383131:exon7:c.G884A:p.R295Q;	0.99533152673773	0.902
18	29206247	G	A	18	31626284	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.C1000T:p.R334W;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.C883T:p.R295W;ENSG00000118276:ENST00000306851:exon8:c.C1000T:p.R334W;ENSG00000118276:ENST00000383131:exon7:c.C883T:p.R295W;	0.995247216148932	0.876
18	29206247	G	C	18	31626284	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.C1000G:p.R334G;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.C883G:p.R295G;ENSG00000118276:ENST00000306851:exon8:c.C1000G:p.R334G;ENSG00000118276:ENST00000383131:exon7:c.C883G:p.R295G;	0.994993775794319	0.79
18	29206247	G	T	18	31626284	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon8:c.C1000A:p.R334R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.C883A:p.R295R;ENSG00000118276:ENST00000306851:exon8:c.C1000A:p.R334R;ENSG00000118276:ENST00000383131:exon7:c.C883A:p.R295R;	0.0270524722661033	0.112
18	29206248	T	A	18	31626285	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon8:c.A999T:p.G333G;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.A882T:p.G294G;ENSG00000118276:ENST00000306851:exon8:c.A999T:p.G333G;ENSG00000118276:ENST00000383131:exon7:c.A882T:p.G294G;	0.00946401795546432	0.17
18	29206248	T	C	18	31626285	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon8:c.A999G:p.G333G;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.A882G:p.G294G;ENSG00000118276:ENST00000306851:exon8:c.A999G:p.G333G;ENSG00000118276:ENST00000383131:exon7:c.A882G:p.G294G;	7.91652256700158E-4	0.012
18	29206248	T	G	18	31626285	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon8:c.A999C:p.G333G;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.A882C:p.G294G;ENSG00000118276:ENST00000306851:exon8:c.A999C:p.G333G;ENSG00000118276:ENST00000383131:exon7:c.A882C:p.G294G;	5.634365566945E-4	0.018
18	29206346	C	A	18	31626383	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.G901T:p.V301F;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.G784T:p.V262F;ENSG00000118276:ENST00000306851:exon8:c.G901T:p.V301F;ENSG00000118276:ENST00000383131:exon7:c.G784T:p.V262F;	0.984190919268891	0.896
18	29206346	C	G	18	31626383	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.G901C:p.V301L;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.G784C:p.V262L;ENSG00000118276:ENST00000306851:exon8:c.G901C:p.V301L;ENSG00000118276:ENST00000383131:exon7:c.G784C:p.V262L;	0.966463615305517	0.822
18	29206346	C	T	18	31626383	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.G901A:p.V301I;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.G784A:p.V262I;ENSG00000118276:ENST00000306851:exon8:c.G901A:p.V301I;ENSG00000118276:ENST00000383131:exon7:c.G784A:p.V262I;	0.986445813223621	0.702
18	29206347	T	A	18	31626384	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.A900T:p.R300S;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.A783T:p.R261S;ENSG00000118276:ENST00000306851:exon8:c.A900T:p.R300S;ENSG00000118276:ENST00000383131:exon7:c.A783T:p.R261S;	0.00432677174419638	0.176
18	29206347	T	C	18	31626384	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon8:c.A900G:p.R300R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.A783G:p.R261R;ENSG00000118276:ENST00000306851:exon8:c.A900G:p.R300R;ENSG00000118276:ENST00000383131:exon7:c.A783G:p.R261R;	2.88337400862728E-4	0.024
18	29206347	T	G	18	31626384	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon8:c.A900C:p.R300S;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon7:c.A783C:p.R261S;ENSG00000118276:ENST00000306851:exon8:c.A900C:p.R300S;ENSG00000118276:ENST00000383131:exon7:c.A783C:p.R261S;	2.37007116195029E-4	0.11
18	29206348	C	A	18	31626385	y	y	splicing	B4GALT6(NM_004775:exon9:c.900-1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.900-1G>T;ENST00000237019:exon8:c.783-1G>T;ENST00000383131:exon8:c.783-1G>T)	.	.	0.999980697831002	0.882
18	29206348	C	G	18	31626385	y	y	splicing	B4GALT6(NM_004775:exon9:c.900-1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.900-1G>C;ENST00000237019:exon8:c.783-1G>C;ENST00000383131:exon8:c.783-1G>C)	.	.	0.999980697831002	0.882
18	29206348	C	T	18	31626385	y	y	splicing	B4GALT6(NM_004775:exon9:c.900-1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.900-1G>A;ENST00000237019:exon8:c.783-1G>A;ENST00000383131:exon8:c.783-1G>A)	.	.	0.999980697831002	0.882
18	29206349	T	A	18	31626386	y	y	splicing	B4GALT6(NM_004775:exon9:c.900-2A>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.900-2A>T;ENST00000237019:exon8:c.783-2A>T;ENST00000383131:exon8:c.783-2A>T)	.	.	0.999933834912627	0.888
18	29206349	T	C	18	31626386	y	y	splicing	B4GALT6(NM_004775:exon9:c.900-2A>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.900-2A>G;ENST00000237019:exon8:c.783-2A>G;ENST00000383131:exon8:c.783-2A>G)	.	.	0.99994515364607	0.888
18	29206349	T	G	18	31626386	y	y	splicing	B4GALT6(NM_004775:exon9:c.900-2A>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon9:c.900-2A>C;ENST00000237019:exon8:c.783-2A>C;ENST00000383131:exon8:c.783-2A>C)	.	.	0.99994515364607	0.888
18	29206350	A	C	18	31626387	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.83983482117742	0.558
18	29206350	A	G	18	31626387	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.12428633181343E-4	0.042
18	29206350	A	T	18	31626387	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.158482739502488	0.366
18	29206351	C	A	18	31626388	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.40887193416056E-4	0.006
18	29206351	C	G	18	31626388	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.99646724328355E-5	0.006
18	29206351	C	T	18	31626388	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.8604347511105E-4	0.012
18	29206352	A	C	18	31626389	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.625924081506841	0.562
18	29206352	A	G	18	31626389	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	8.28624030298845E-4	0.146
18	29206352	A	T	18	31626389	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999119194772227	0.944
18	29206353	A	C	18	31626390	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.996502733549747	0.954
18	29206353	A	G	18	31626390	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.93573366773374E-5	0.022
18	29206353	A	T	18	31626390	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.086532174499771	0.5
18	29206354	T	A	18	31626391	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.63756184029401E-5	0.018
18	29206354	T	C	18	31626391	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.62606807976353E-5	0.006
18	29206354	T	G	18	31626391	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.59205525688324E-5	0.014
18	29206355	G	A	18	31626392	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.41949809183178E-5	0.008
18	29206355	G	C	18	31626392	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.83962504933251E-4	0.134
18	29206355	G	T	18	31626392	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.53382410751686E-4	0.112
18	29206356	C	A	18	31626393	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	7.10491091807414E-5	0.024
18	29206356	C	G	18	31626393	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.05978476570169E-5	0.0
18	29206356	C	T	18	31626393	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.87404106461881E-4	0.01
18	29206357	C	A	18	31626394	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.02173298536744E-5	0.008
18	29206357	C	G	18	31626394	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.20361779902584E-5	0.02
18	29206357	C	T	18	31626394	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.997857637133353	0.968
18	29206358	A	C	18	31626395	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999308092436494	0.926
18	29206358	A	G	18	31626395	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0529924728741599	0.482
18	29206358	A	T	18	31626395	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999416539852817	0.936
18	29206359	T	A	18	31626396	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.61524121989322E-5	0.022
18	29206359	T	C	18	31626396	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.41827772919548E-5	0.026
18	29206359	T	G	18	31626396	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.98933226725435E-5	0.0
18	29206954	C	A	18	31626991	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.69420461982139E-4	0.008
18	29206954	C	G	18	31626991	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.1253820267964E-4	0.006
18	29206954	C	T	18	31626991	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.28579615503235E-4	0.012
18	29206955	A	C	18	31626992	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.94521681473452E-4	0.006
18	29206955	A	G	18	31626992	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.69466089456713E-4	0.004
18	29206955	A	T	18	31626992	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.62259275507461E-4	0.012
18	29206956	A	C	18	31626993	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0221042892481424	0.224
18	29206956	A	G	18	31626993	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0561527780806986	0.358
18	29206956	A	T	18	31626993	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.052548104306905	0.324
18	29206957	C	A	18	31626994	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.99708031520839	0.652
18	29206957	C	G	18	31626994	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998058897739667	0.78
18	29206957	C	T	18	31626994	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998524501722036	0.686
18	29206958	A	C	18	31626995	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.41058095374715E-5	0.004
18	29206958	A	G	18	31626995	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.57382114541376E-4	0.036
18	29206958	A	T	18	31626995	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.59878753411997E-5	0.01
18	29206959	T	A	18	31626996	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.980095154313078	0.708
18	29206959	T	C	18	31626996	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.778248322081448	0.666
18	29206959	T	G	18	31626996	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.982365798821215	0.7
18	29206960	A	C	18	31626997	y	y	splicing	B4GALT6(NM_004775:exon8:c.899+2T>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.899+2T>G;ENST00000237019:exon7:c.782+2T>G;ENST00000383131:exon7:c.782+2T>G)	.	.	0.999988247793601	0.93
18	29206960	A	G	18	31626997	y	y	splicing	B4GALT6(NM_004775:exon8:c.899+2T>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.899+2T>C;ENST00000237019:exon7:c.782+2T>C;ENST00000383131:exon7:c.782+2T>C)	.	.	0.992783534660112	0.692
18	29206960	A	T	18	31626997	y	y	splicing	B4GALT6(NM_004775:exon8:c.899+2T>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.899+2T>A;ENST00000237019:exon7:c.782+2T>A;ENST00000383131:exon7:c.782+2T>A)	.	.	0.999988247793601	0.93
18	29206961	C	A	18	31626998	y	y	splicing	B4GALT6(NM_004775:exon8:c.899+1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.899+1G>T;ENST00000237019:exon7:c.782+1G>T;ENST00000383131:exon7:c.782+1G>T)	.	.	0.999990361384395	0.938
18	29206961	C	G	18	31626998	y	y	splicing	B4GALT6(NM_004775:exon8:c.899+1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.899+1G>C;ENST00000237019:exon7:c.782+1G>C;ENST00000383131:exon7:c.782+1G>C)	.	.	0.999990361384395	0.938
18	29206961	C	T	18	31626998	y	y	splicing	B4GALT6(NM_004775:exon8:c.899+1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.899+1G>A;ENST00000237019:exon7:c.782+1G>A;ENST00000383131:exon7:c.782+1G>A)	.	.	0.999990361384395	0.938
18	29206962	C	A	18	31626999	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.G899T:p.R300I;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.G782T:p.R261I;ENSG00000118276:ENST00000306851:exon7:c.G899T:p.R300I;ENSG00000118276:ENST00000383131:exon6:c.G782T:p.R261I;	0.999972482551795	0.994
18	29206962	C	G	18	31626999	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.G899C:p.R300T;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.G782C:p.R261T;ENSG00000118276:ENST00000306851:exon7:c.G899C:p.R300T;ENSG00000118276:ENST00000383131:exon6:c.G782C:p.R261T;	0.99998364986475	0.992
18	29206962	C	T	18	31626999	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.G899A:p.R300K;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.G782A:p.R261K;ENSG00000118276:ENST00000306851:exon7:c.G899A:p.R300K;ENSG00000118276:ENST00000383131:exon6:c.G782A:p.R261K;	0.9999176982818	0.994
18	29206963	T	A	18	31627000	y	y	exonic	B4GALT6	stopgain SNV	B4GALT6:NM_004775:exon7:c.A898T:p.R300X;	exonic	ENSG00000118276	stopgain SNV	ENSG00000118276:ENST00000237019:exon6:c.A781T:p.R261X;ENSG00000118276:ENST00000306851:exon7:c.A898T:p.R300X;ENSG00000118276:ENST00000383131:exon6:c.A781T:p.R261X;	0.999828442685197	0.988
18	29206963	T	C	18	31627000	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.A898G:p.R300G;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.A781G:p.R261G;ENSG00000118276:ENST00000306851:exon7:c.A898G:p.R300G;ENSG00000118276:ENST00000383131:exon6:c.A781G:p.R261G;	0.999368006551561	0.962
18	29206963	T	G	18	31627000	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon7:c.A898C:p.R300R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.A781C:p.R261R;ENSG00000118276:ENST00000306851:exon7:c.A898C:p.R300R;ENSG00000118276:ENST00000383131:exon6:c.A781C:p.R261R;	0.992859924057349	0.966
18	29206964	G	A	18	31627001	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon7:c.C897T:p.N299N;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.C780T:p.N260N;ENSG00000118276:ENST00000306851:exon7:c.C897T:p.N299N;ENSG00000118276:ENST00000383131:exon6:c.C780T:p.N260N;	0.00466476806184703	0.31
18	29206964	G	C	18	31627001	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.C897G:p.N299K;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.C780G:p.N260K;ENSG00000118276:ENST00000306851:exon7:c.C897G:p.N299K;ENSG00000118276:ENST00000383131:exon6:c.C780G:p.N260K;	9.53636319518845E-5	0.028
18	29206964	G	T	18	31627001	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.C897A:p.N299K;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.C780A:p.N260K;ENSG00000118276:ENST00000306851:exon7:c.C897A:p.N299K;ENSG00000118276:ENST00000383131:exon6:c.C780A:p.N260K;	2.71420690164417E-5	0.05
18	29207083	G	A	18	31627120	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.C778T:p.L260F;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.C661T:p.L221F;ENSG00000118276:ENST00000306851:exon7:c.C778T:p.L260F;ENSG00000118276:ENST00000383131:exon6:c.C661T:p.L221F;	0.970227481678787	0.824
18	29207083	G	C	18	31627120	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.C778G:p.L260V;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.C661G:p.L221V;ENSG00000118276:ENST00000306851:exon7:c.C778G:p.L260V;ENSG00000118276:ENST00000383131:exon6:c.C661G:p.L221V;	0.930582462446629	0.686
18	29207083	G	T	18	31627120	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.C778A:p.L260I;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.C661A:p.L221I;ENSG00000118276:ENST00000306851:exon7:c.C778A:p.L260I;ENSG00000118276:ENST00000383131:exon6:c.C661A:p.L221I;	0.991391081967072	0.752
18	29207084	A	C	18	31627121	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon7:c.T777G:p.I259M;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.T660G:p.I220M;ENSG00000118276:ENST00000306851:exon7:c.T777G:p.I259M;ENSG00000118276:ENST00000383131:exon6:c.T660G:p.I220M;	7.28456136377951E-5	0.034
18	29207084	A	G	18	31627121	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon7:c.T777C:p.I259I;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.T660C:p.I220I;ENSG00000118276:ENST00000306851:exon7:c.T777C:p.I259I;ENSG00000118276:ENST00000383131:exon6:c.T660C:p.I220I;	1.44909220586685E-4	0.018
18	29207084	A	T	18	31627121	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon7:c.T777A:p.I259I;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon6:c.T660A:p.I220I;ENSG00000118276:ENST00000306851:exon7:c.T777A:p.I259I;ENSG00000118276:ENST00000383131:exon6:c.T660A:p.I220I;	2.14381531233796E-5	0.0
18	29207085	C	A	18	31627122	y	y	splicing	B4GALT6(NM_004775:exon8:c.777-1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.777-1G>T;ENST00000237019:exon7:c.660-1G>T;ENST00000383131:exon7:c.660-1G>T)	.	.	0.999990361384395	0.938
18	29207085	C	G	18	31627122	y	y	splicing	B4GALT6(NM_004775:exon8:c.777-1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.777-1G>C;ENST00000237019:exon7:c.660-1G>C;ENST00000383131:exon7:c.660-1G>C)	.	.	0.999990361384395	0.938
18	29207085	C	T	18	31627122	y	y	splicing	B4GALT6(NM_004775:exon8:c.777-1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.777-1G>A;ENST00000237019:exon7:c.660-1G>A;ENST00000383131:exon7:c.660-1G>A)	.	.	0.999990361384395	0.938
18	29207086	T	A	18	31627123	y	y	splicing	B4GALT6(NM_004775:exon8:c.777-2A>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.777-2A>T;ENST00000237019:exon7:c.660-2A>T;ENST00000383131:exon7:c.660-2A>T)	.	.	0.999988247793601	0.93
18	29207086	T	C	18	31627123	y	y	splicing	B4GALT6(NM_004775:exon8:c.777-2A>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.777-2A>G;ENST00000237019:exon7:c.660-2A>G;ENST00000383131:exon7:c.660-2A>G)	.	.	0.999988247793601	0.93
18	29207086	T	G	18	31627123	y	y	splicing	B4GALT6(NM_004775:exon8:c.777-2A>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon8:c.777-2A>C;ENST00000237019:exon7:c.660-2A>C;ENST00000383131:exon7:c.660-2A>C)	.	.	0.999988247793601	0.93
18	29207087	A	C	18	31627124	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.665382784724257	0.638
18	29207087	A	G	18	31627124	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.82203749658262E-5	0.01
18	29207087	A	T	18	31627124	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	8.08036204707005E-4	0.172
18	29207088	G	A	18	31627125	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.01132188043412E-5	0.034
18	29207088	G	C	18	31627125	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.64129013429342E-4	0.042
18	29207088	G	T	18	31627125	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.54106955996735E-4	0.052
18	29207089	A	C	18	31627126	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0176860727182715	0.338
18	29207089	A	G	18	31627126	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00135581074038327	0.042
18	29207089	A	T	18	31627126	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0201074449579435	0.246
18	29207090	A	C	18	31627127	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0712254691479236	0.18
18	29207090	A	G	18	31627127	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00602974472950888	0.11
18	29207090	A	T	18	31627127	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.143556143988793	0.196
18	29207091	A	C	18	31627128	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.86530495190547E-4	0.084
18	29207091	A	G	18	31627128	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.49578595603635E-5	0.0
18	29207091	A	T	18	31627128	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00231107901171813	0.11
18	29207092	A	C	18	31627129	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00150042387263778	0.258
18	29207092	A	G	18	31627129	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.83669431577567E-4	0.006
18	29207092	A	T	18	31627129	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00140593567901615	0.14
18	29207093	G	A	18	31627130	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.18194003625916E-4	0.132
18	29207093	G	C	18	31627130	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.60134238070237E-5	0.058
18	29207093	G	T	18	31627130	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.01650438803012E-4	0.066
18	29207094	A	C	18	31627131	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.628057334383053	0.484
18	29207094	A	G	18	31627131	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.136123690617507	0.406
18	29207094	A	T	18	31627131	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.787708317127534	0.578
18	29207095	A	C	18	31627132	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.08916183072073E-4	0.16
18	29207095	A	G	18	31627132	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.34785254296912E-5	0.064
18	29207095	A	T	18	31627132	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.89132896837522E-4	0.276
18	29207096	A	C	18	31627133	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.62628504835791E-4	0.086
18	29207096	A	G	18	31627133	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.7857363518485E-5	0.024
18	29207096	A	T	18	31627133	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.7276072470904E-4	0.124
18	29210914	C	A	18	31630951	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.08888282022373E-4	0.0
18	29210914	C	G	18	31630951	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.95842387866156E-4	0.0
18	29210914	C	T	18	31630951	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.84972663508879E-4	0.0
18	29210915	T	A	18	31630952	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.67936397539934E-4	0.024
18	29210915	T	C	18	31630952	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.22244207639756E-4	0.0
18	29210915	T	G	18	31630952	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.03486456168554E-4	0.0
18	29210916	A	C	18	31630953	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.97827826272004	0.798
18	29210916	A	G	18	31630953	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.982088293914308	0.806
18	29210916	A	T	18	31630953	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.994164926142998	0.888
18	29210917	C	A	18	31630954	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999972798976155	0.992
18	29210917	C	G	18	31630954	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999790424466868	0.946
18	29210917	C	T	18	31630954	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999972798976155	0.994
18	29210918	T	A	18	31630955	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999178417162155	0.926
18	29210918	T	C	18	31630955	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999547393226674	0.98
18	29210918	T	G	18	31630955	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998966877402968	0.944
18	29210919	T	A	18	31630956	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998996284968962	0.756
18	29210919	T	C	18	31630956	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0131384090739419	0.266
18	29210919	T	G	18	31630956	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998331909544571	0.734
18	29210920	A	C	18	31630957	y	y	splicing	B4GALT6(NM_004775:exon7:c.776+2T>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.776+2T>G;ENST00000237019:exon6:c.659+2T>G;ENST00000383131:exon6:c.659+2T>G)	.	.	0.999988247793601	0.932
18	29210920	A	G	18	31630957	y	y	splicing	B4GALT6(NM_004775:exon7:c.776+2T>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.776+2T>C;ENST00000237019:exon6:c.659+2T>C;ENST00000383131:exon6:c.659+2T>C)	.	.	0.994669226766359	0.704
18	29210920	A	T	18	31630957	y	y	splicing	B4GALT6(NM_004775:exon7:c.776+2T>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.776+2T>A;ENST00000237019:exon6:c.659+2T>A;ENST00000383131:exon6:c.659+2T>A)	.	.	0.999988247793601	0.932
18	29210921	C	A	18	31630958	y	y	splicing	B4GALT6(NM_004775:exon7:c.776+1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.776+1G>T;ENST00000237019:exon6:c.659+1G>T;ENST00000383131:exon6:c.659+1G>T)	.	.	0.999989072007339	0.934
18	29210921	C	G	18	31630958	y	y	splicing	B4GALT6(NM_004775:exon7:c.776+1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.776+1G>C;ENST00000237019:exon6:c.659+1G>C;ENST00000383131:exon6:c.659+1G>C)	.	.	0.999989072007339	0.934
18	29210921	C	T	18	31630958	y	y	splicing	B4GALT6(NM_004775:exon7:c.776+1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.776+1G>A;ENST00000237019:exon6:c.659+1G>A;ENST00000383131:exon6:c.659+1G>A)	.	.	0.999989072007339	0.934
18	29210922	A	C	18	31630959	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.T776G:p.I259S;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.T659G:p.I220S;ENSG00000118276:ENST00000306851:exon6:c.T776G:p.I259S;ENSG00000118276:ENST00000383131:exon5:c.T659G:p.I220S;	0.00275185831715057	0.1
18	29210922	A	G	18	31630959	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.T776C:p.I259T;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.T659C:p.I220T;ENSG00000118276:ENST00000306851:exon6:c.T776C:p.I259T;ENSG00000118276:ENST00000383131:exon5:c.T659C:p.I220T;	0.140608151174551	0.394
18	29210922	A	T	18	31630959	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.T776A:p.I259N;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.T659A:p.I220N;ENSG00000118276:ENST00000306851:exon6:c.T776A:p.I259N;ENSG00000118276:ENST00000383131:exon5:c.T659A:p.I220N;	0.113299701491386	0.27
18	29210923	T	A	18	31630960	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.A775T:p.I259F;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.A658T:p.I220F;ENSG00000118276:ENST00000306851:exon6:c.A775T:p.I259F;ENSG00000118276:ENST00000383131:exon5:c.A658T:p.I220F;	0.726667807412268	0.654
18	29210923	T	C	18	31630960	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.A775G:p.I259V;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.A658G:p.I220V;ENSG00000118276:ENST00000306851:exon6:c.A775G:p.I259V;ENSG00000118276:ENST00000383131:exon5:c.A658G:p.I220V;	0.394013146012518	0.564
18	29210923	T	G	18	31630960	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.A775C:p.I259L;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.A658C:p.I220L;ENSG00000118276:ENST00000306851:exon6:c.A775C:p.I259L;ENSG00000118276:ENST00000383131:exon5:c.A658C:p.I220L;	0.454455662680307	0.652
18	29210924	A	C	18	31630961	y	y	exonic	B4GALT6	stopgain SNV	B4GALT6:NM_004775:exon6:c.T774G:p.Y258X;	exonic	ENSG00000118276	stopgain SNV	ENSG00000118276:ENST00000237019:exon5:c.T657G:p.Y219X;ENSG00000118276:ENST00000306851:exon6:c.T774G:p.Y258X;ENSG00000118276:ENST00000383131:exon5:c.T657G:p.Y219X;	1.50226534331394E-4	0.248
18	29210924	A	G	18	31630961	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon6:c.T774C:p.Y258Y;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.T657C:p.Y219Y;ENSG00000118276:ENST00000306851:exon6:c.T774C:p.Y258Y;ENSG00000118276:ENST00000383131:exon5:c.T657C:p.Y219Y;	7.75372843269447E-5	0.002
18	29210924	A	T	18	31630961	y	y	exonic	B4GALT6	stopgain SNV	B4GALT6:NM_004775:exon6:c.T774A:p.Y258X;	exonic	ENSG00000118276	stopgain SNV	ENSG00000118276:ENST00000237019:exon5:c.T657A:p.Y219X;ENSG00000118276:ENST00000306851:exon6:c.T774A:p.Y258X;ENSG00000118276:ENST00000383131:exon5:c.T657A:p.Y219X;	8.88749901473935E-5	0.262
18	29211108	G	A	18	31631145	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.C590T:p.T197I;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.C473T:p.T158I;ENSG00000118276:ENST00000306851:exon6:c.C590T:p.T197I;ENSG00000118276:ENST00000383131:exon5:c.C473T:p.T158I;	2.32446014560879E-4	0.094
18	29211108	G	C	18	31631145	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.C590G:p.T197S;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.C473G:p.T158S;ENSG00000118276:ENST00000306851:exon6:c.C590G:p.T197S;ENSG00000118276:ENST00000383131:exon5:c.C473G:p.T158S;	5.13975974918242E-5	0.022
18	29211108	G	T	18	31631145	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.C590A:p.T197N;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.C473A:p.T158N;ENSG00000118276:ENST00000306851:exon6:c.C590A:p.T197N;ENSG00000118276:ENST00000383131:exon5:c.C473A:p.T158N;	2.17048965112213E-4	0.094
18	29211109	T	A	18	31631146	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.A589T:p.T197S;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.A472T:p.T158S;ENSG00000118276:ENST00000306851:exon6:c.A589T:p.T197S;ENSG00000118276:ENST00000383131:exon5:c.A472T:p.T158S;	0.00634026928306609	0.182
18	29211109	T	C	18	31631146	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.A589G:p.T197A;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.A472G:p.T158A;ENSG00000118276:ENST00000306851:exon6:c.A589G:p.T197A;ENSG00000118276:ENST00000383131:exon5:c.A472G:p.T158A;	6.27717405145586E-4	0.08
18	29211109	T	G	18	31631146	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon6:c.A589C:p.T197P;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon5:c.A472C:p.T158P;ENSG00000118276:ENST00000306851:exon6:c.A589C:p.T197P;ENSG00000118276:ENST00000383131:exon5:c.A472C:p.T158P;	0.00904027503314321	0.152
18	29211110	C	A	18	31631147	y	y	splicing	B4GALT6(NM_004775:exon7:c.589-1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.589-1G>T;ENST00000237019:exon6:c.472-1G>T;ENST00000383131:exon6:c.472-1G>T)	.	.	0.999769268664518	0.886
18	29211110	C	G	18	31631147	y	y	splicing	B4GALT6(NM_004775:exon7:c.589-1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.589-1G>C;ENST00000237019:exon6:c.472-1G>C;ENST00000383131:exon6:c.472-1G>C)	.	.	0.999769268664518	0.884
18	29211110	C	T	18	31631147	y	y	splicing	B4GALT6(NM_004775:exon7:c.589-1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.589-1G>A;ENST00000237019:exon6:c.472-1G>A;ENST00000383131:exon6:c.472-1G>A)	.	.	0.999769268664518	0.88
18	29211111	T	A	18	31631148	y	y	splicing	B4GALT6(NM_004775:exon7:c.589-2A>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.589-2A>T;ENST00000237019:exon6:c.472-2A>T;ENST00000383131:exon6:c.472-2A>T)	.	.	0.999758624979273	0.884
18	29211111	T	C	18	31631148	y	y	splicing	B4GALT6(NM_004775:exon7:c.589-2A>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.589-2A>G;ENST00000237019:exon6:c.472-2A>G;ENST00000383131:exon6:c.472-2A>G)	.	.	0.999871123278468	0.882
18	29211111	T	G	18	31631148	y	y	splicing	B4GALT6(NM_004775:exon7:c.589-2A>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon7:c.589-2A>C;ENST00000237019:exon6:c.472-2A>C;ENST00000383131:exon6:c.472-2A>C)	.	.	0.999871123278468	0.882
18	29211112	T	A	18	31631149	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.10244282398267E-4	0.024
18	29211112	T	C	18	31631149	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0215198907369833	0.252
18	29211112	T	G	18	31631149	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.45042010340972E-4	0.098
18	29211113	C	A	18	31631150	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.90897465384286E-5	0.012
18	29211113	C	G	18	31631150	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.65714427701654E-4	0.038
18	29211113	C	T	18	31631150	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.06426979931408E-4	0.014
18	29211114	A	C	18	31631151	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999825792502687	0.912
18	29211114	A	G	18	31631151	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.41941205417119E-4	0.062
18	29211114	A	T	18	31631151	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999825792502687	0.918
18	29211115	T	A	18	31631152	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.00684534904205E-5	0.008
18	29211115	T	C	18	31631152	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.00290700564711E-4	0.034
18	29211115	T	G	18	31631152	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.94168670327819E-5	0.008
18	29211116	G	A	18	31631153	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.08213488577302E-5	0.026
18	29211116	G	C	18	31631153	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00102548215946721	0.108
18	29211116	G	T	18	31631153	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00114978404370466	0.12
18	29211117	G	A	18	31631154	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.37839811159628E-4	0.036
18	29211117	G	C	18	31631154	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0466698394785786	0.202
18	29211117	G	T	18	31631154	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.118311757490362	0.21
18	29211118	A	C	18	31631155	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.772847672177149	0.482
18	29211118	A	G	18	31631155	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	8.69065386465179E-5	0.086
18	29211118	A	T	18	31631155	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.772847672177149	0.536
18	29211119	G	A	18	31631156	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.00067337453866E-4	0.074
18	29211119	G	C	18	31631156	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.2671743887505E-4	0.054
18	29211119	G	T	18	31631156	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00139354545784082	0.104
18	29211120	C	A	18	31631157	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.49921243749603E-4	0.134
18	29211120	C	G	18	31631157	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.58154617963383E-4	0.11
18	29211120	C	T	18	31631157	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.91178096384928E-4	0.058
18	29211121	A	C	18	31631158	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.914302412240571	0.636
18	29211121	A	G	18	31631158	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.1069682805957E-4	0.1
18	29211121	A	T	18	31631158	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.99943824059627	0.94
18	29218599	A	C	18	31638636	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.43343764142037E-4	0.0
18	29218599	A	G	18	31638636	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.02424261842806E-4	0.0
18	29218599	A	T	18	31638636	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.40161576834635E-4	0.0
18	29218600	T	A	18	31638637	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.05281897942507E-4	0.058
18	29218600	T	C	18	31638637	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.37094088477173E-4	0.0
18	29218600	T	G	18	31638637	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.83220134956156E-5	0.0
18	29218601	T	A	18	31638638	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.01174528024988E-5	0.0
18	29218601	T	C	18	31638638	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.86151081936702E-5	0.0
18	29218601	T	G	18	31638638	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.82950891942074E-5	0.01
18	29218602	C	A	18	31638639	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999476415904591	0.884
18	29218602	C	G	18	31638639	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999586215799793	0.864
18	29218602	C	T	18	31638639	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999877698872414	0.97
18	29218603	T	A	18	31638640	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.942293135122425	0.616
18	29218603	T	C	18	31638640	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.944269104929864	0.64
18	29218603	T	G	18	31638640	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.578855188641369	0.362
18	29218604	C	A	18	31638641	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.393909025398122	0.408
18	29218604	C	G	18	31638641	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.134312540597119	0.372
18	29218604	C	T	18	31638641	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.45201883010626E-5	0.008
18	29218605	A	C	18	31638642	y	y	splicing	B4GALT6(NM_004775:exon6:c.588+2T>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.588+2T>G;ENST00000237019:exon5:c.471+2T>G)	.	.	0.999988247793601	0.93
18	29218605	A	G	18	31638642	y	y	splicing	B4GALT6(NM_004775:exon6:c.588+2T>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.588+2T>C;ENST00000237019:exon5:c.471+2T>C)	.	.	0.99991520749976	0.86
18	29218605	A	T	18	31638642	y	y	splicing	B4GALT6(NM_004775:exon6:c.588+2T>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.588+2T>A;ENST00000237019:exon5:c.471+2T>A)	.	.	0.999988247793601	0.93
18	29218606	C	A	18	31638643	y	y	splicing	B4GALT6(NM_004775:exon6:c.588+1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.588+1G>T;ENST00000237019:exon5:c.471+1G>T)	.	.	0.999986675681007	0.934
18	29218606	C	G	18	31638643	y	y	splicing	B4GALT6(NM_004775:exon6:c.588+1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.588+1G>C;ENST00000237019:exon5:c.471+1G>C)	.	.	0.999986675681007	0.934
18	29218606	C	T	18	31638643	y	y	splicing	B4GALT6(NM_004775:exon6:c.588+1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.588+1G>A;ENST00000237019:exon5:c.471+1G>A)	.	.	0.999986675681007	0.934
18	29218607	C	A	18	31638644	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.G588T:p.Q196H;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.G471T:p.Q157H;ENSG00000118276:ENST00000306851:exon5:c.G588T:p.Q196H;	0.999939117889219	0.998
18	29218607	C	G	18	31638644	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.G588C:p.Q196H;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.G471C:p.Q157H;ENSG00000118276:ENST00000306851:exon5:c.G588C:p.Q196H;	0.999995750122793	0.996
18	29218607	C	T	18	31638644	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon5:c.G588A:p.Q196Q;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.G471A:p.Q157Q;ENSG00000118276:ENST00000306851:exon5:c.G588A:p.Q196Q;	0.999812421131549	0.992
18	29218608	T	A	18	31638645	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.A587T:p.Q196L;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.A470T:p.Q157L;ENSG00000118276:ENST00000306851:exon5:c.A587T:p.Q196L;	0.995916295431781	0.912
18	29218608	T	C	18	31638645	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.A587G:p.Q196R;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.A470G:p.Q157R;ENSG00000118276:ENST00000306851:exon5:c.A587G:p.Q196R;	0.999491789747974	0.98
18	29218608	T	G	18	31638645	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.A587C:p.Q196P;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.A470C:p.Q157P;ENSG00000118276:ENST00000306851:exon5:c.A587C:p.Q196P;	0.983313781092044	0.866
18	29218609	G	A	18	31638646	y	y	exonic	B4GALT6	stopgain SNV	B4GALT6:NM_004775:exon5:c.C586T:p.Q196X;	exonic	ENSG00000118276	stopgain SNV	ENSG00000118276:ENST00000237019:exon4:c.C469T:p.Q157X;ENSG00000118276:ENST00000306851:exon5:c.C586T:p.Q196X;	0.998709533958317	0.884
18	29218609	G	C	18	31638646	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.C586G:p.Q196E;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.C469G:p.Q157E;ENSG00000118276:ENST00000306851:exon5:c.C586G:p.Q196E;	0.86384428337408	0.674
18	29218609	G	T	18	31638646	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.C586A:p.Q196K;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.C469A:p.Q157K;ENSG00000118276:ENST00000306851:exon5:c.C586A:p.Q196K;	0.961094621627274	0.824
18	29218722	A	C	18	31638759	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.T473G:p.V158G;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.T356G:p.V119G;ENSG00000118276:ENST00000306851:exon5:c.T473G:p.V158G;	0.0122261767709318	0.256
18	29218722	A	G	18	31638759	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.T473C:p.V158A;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.T356C:p.V119A;ENSG00000118276:ENST00000306851:exon5:c.T473C:p.V158A;	0.0141258273689894	0.274
18	29218722	A	T	18	31638759	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.T473A:p.V158E;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.T356A:p.V119E;ENSG00000118276:ENST00000306851:exon5:c.T473A:p.V158E;	0.0141258273689894	0.254
18	29218723	C	A	18	31638760	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.G472T:p.V158L;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.G355T:p.V119L;ENSG00000118276:ENST00000306851:exon5:c.G472T:p.V158L;	0.999909990164082	0.996
18	29218723	C	G	18	31638760	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.G472C:p.V158L;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.G355C:p.V119L;ENSG00000118276:ENST00000306851:exon5:c.G472C:p.V158L;	0.999855798842408	0.986
18	29218723	C	T	18	31638760	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon5:c.G472A:p.V158M;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon4:c.G355A:p.V119M;ENSG00000118276:ENST00000306851:exon5:c.G472A:p.V158M;	0.998551425098113	0.908
18	29218724	C	A	18	31638761	y	y	splicing	B4GALT6(NM_004775:exon6:c.472-1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.472-1G>T;ENST00000237019:exon5:c.355-1G>T)	.	.	0.999989072007339	0.934
18	29218724	C	G	18	31638761	y	y	splicing	B4GALT6(NM_004775:exon6:c.472-1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.472-1G>C;ENST00000237019:exon5:c.355-1G>C)	.	.	0.999989072007339	0.934
18	29218724	C	T	18	31638761	y	y	splicing	B4GALT6(NM_004775:exon6:c.472-1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.472-1G>A;ENST00000237019:exon5:c.355-1G>A)	.	.	0.999989072007339	0.934
18	29218725	T	A	18	31638762	y	y	splicing	B4GALT6(NM_004775:exon6:c.472-2A>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.472-2A>T;ENST00000237019:exon5:c.355-2A>T)	.	.	0.999988247793601	0.93
18	29218725	T	C	18	31638762	y	y	splicing	B4GALT6(NM_004775:exon6:c.472-2A>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.472-2A>G;ENST00000237019:exon5:c.355-2A>G)	.	.	0.999988247793601	0.93
18	29218725	T	G	18	31638762	y	y	splicing	B4GALT6(NM_004775:exon6:c.472-2A>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon6:c.472-2A>C;ENST00000237019:exon5:c.355-2A>C)	.	.	0.999988247793601	0.93
18	29218726	T	A	18	31638763	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.59530777704209E-4	0.002
18	29218726	T	C	18	31638763	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.593544228540655	0.358
18	29218726	T	G	18	31638763	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	8.9919445447418E-4	0.064
18	29218727	T	A	18	31638764	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.3933455988198E-5	0.0
18	29218727	T	C	18	31638764	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.28553357290518E-4	0.0
18	29218727	T	G	18	31638764	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	7.21080099942158E-5	0.0
18	29218728	A	C	18	31638765	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.641350252116296	0.468
18	29218728	A	G	18	31638765	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00100934831437904	0.024
18	29218728	A	T	18	31638765	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.745365049498954	0.524
18	29218729	A	C	18	31638766	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.991074562298155	0.892
18	29218729	A	G	18	31638766	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00441189671921219	0.138
18	29218729	A	T	18	31638766	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.989534085850679	0.856
18	29218730	A	C	18	31638767	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.267315029580696	0.408
18	29218730	A	G	18	31638767	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.36012613082117E-4	0.004
18	29218730	A	T	18	31638767	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.739563402238512	0.636
18	29218731	A	C	18	31638768	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.144355327144354	0.406
18	29218731	A	G	18	31638768	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.29921295314913E-4	0.002
18	29218731	A	T	18	31638768	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.784177543186321	0.436
18	29218732	C	A	18	31638769	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.457831865813056	0.472
18	29218732	C	G	18	31638769	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.171044236249493	0.414
18	29218732	C	T	18	31638769	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.165812288711107	0.434
18	29218733	A	C	18	31638770	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.954710196382966	0.76
18	29218733	A	G	18	31638770	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	7.99498053859351E-4	0.038
18	29218733	A	T	18	31638770	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999975099871958	0.926
18	29218734	A	C	18	31638771	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.950925778920277	0.654
18	29218734	A	G	18	31638771	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0809881515643916	0.198
18	29218734	A	T	18	31638771	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.991290888629756	0.822
18	29218735	A	C	18	31638772	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.6507683683788	0.506
18	29218735	A	G	18	31638772	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00189540777124248	0.032
18	29218735	A	T	18	31638772	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.653354466487826	0.6
18	29225310	T	A	18	31645347	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.87745747787382E-4	0.038
18	29225310	T	C	18	31645347	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.17503352317918E-4	0.016
18	29225310	T	G	18	31645347	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.90199473852436E-4	0.02
18	29225311	A	C	18	31645348	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.65695898119675E-4	0.002
18	29225311	A	G	18	31645348	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.65695898119675E-4	0.004
18	29225311	A	T	18	31645348	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.92561498106878E-4	0.004
18	29225312	C	A	18	31645349	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.77313357566726E-5	0.006
18	29225312	C	G	18	31645349	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	7.72658811098987E-5	0.034
18	29225312	C	T	18	31645349	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.66589624668416E-4	0.014
18	29225313	C	A	18	31645350	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999480850051987	0.928
18	29225313	C	G	18	31645350	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.986033931326276	0.692
18	29225313	C	T	18	31645350	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999561852242769	0.872
18	29225314	T	A	18	31645351	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998436855831128	0.884
18	29225314	T	C	18	31645351	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998432031317728	0.928
18	29225314	T	G	18	31645351	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.995053050108164	0.868
18	29225315	C	A	18	31645352	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.985467232703259	0.852
18	29225315	C	G	18	31645352	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.984604246226062	0.852
18	29225315	C	T	18	31645352	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0021829569018256	0.036
18	29225316	A	C	18	31645353	y	y	splicing	B4GALT6(NM_004775:exon5:c.471+2T>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.471+2T>G;ENST00000237019:exon4:c.354+2T>G;ENST00000383131:exon5:c.471+2T>G)	.	.	0.999988247793601	0.93
18	29225316	A	G	18	31645353	y	y	splicing	B4GALT6(NM_004775:exon5:c.471+2T>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.471+2T>C;ENST00000237019:exon4:c.354+2T>C;ENST00000383131:exon5:c.471+2T>C)	.	.	0.999929727175276	0.87
18	29225316	A	T	18	31645353	y	y	splicing	B4GALT6(NM_004775:exon5:c.471+2T>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.471+2T>A;ENST00000237019:exon4:c.354+2T>A;ENST00000383131:exon5:c.471+2T>A)	.	.	0.999988247793601	0.93
18	29225317	C	A	18	31645354	y	y	splicing	B4GALT6(NM_004775:exon5:c.471+1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.471+1G>T;ENST00000237019:exon4:c.354+1G>T;ENST00000383131:exon5:c.471+1G>T)	.	.	0.999990361384395	0.938
18	29225317	C	G	18	31645354	y	y	splicing	B4GALT6(NM_004775:exon5:c.471+1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.471+1G>C;ENST00000237019:exon4:c.354+1G>C;ENST00000383131:exon5:c.471+1G>C)	.	.	0.999990361384395	0.938
18	29225317	C	T	18	31645354	y	y	splicing	B4GALT6(NM_004775:exon5:c.471+1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.471+1G>A;ENST00000237019:exon4:c.354+1G>A;ENST00000383131:exon5:c.471+1G>A)	.	.	0.999990361384395	0.938
18	29225318	C	A	18	31645355	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.G471T:p.K157N;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.G354T:p.K118N;ENSG00000118276:ENST00000306851:exon4:c.G471T:p.K157N;ENSG00000118276:ENST00000383131:exon4:c.G471T:p.K157N;	0.999940376441986	0.982
18	29225318	C	G	18	31645355	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.G471C:p.K157N;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.G354C:p.K118N;ENSG00000118276:ENST00000306851:exon4:c.G471C:p.K157N;ENSG00000118276:ENST00000383131:exon4:c.G471C:p.K157N;	0.999990747318554	1.0
18	29225318	C	T	18	31645355	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon4:c.G471A:p.K157K;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.G354A:p.K118K;ENSG00000118276:ENST00000306851:exon4:c.G471A:p.K157K;ENSG00000118276:ENST00000383131:exon4:c.G471A:p.K157K;	0.999943533829002	0.984
18	29225319	T	A	18	31645356	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.A470T:p.K157M;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.A353T:p.K118M;ENSG00000118276:ENST00000306851:exon4:c.A470T:p.K157M;ENSG00000118276:ENST00000383131:exon4:c.A470T:p.K157M;	0.999775033884495	0.958
18	29225319	T	C	18	31645356	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.A470G:p.K157R;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.A353G:p.K118R;ENSG00000118276:ENST00000306851:exon4:c.A470G:p.K157R;ENSG00000118276:ENST00000383131:exon4:c.A470G:p.K157R;	0.99986383042763	1.0
18	29225319	T	G	18	31645356	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.A470C:p.K157T;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.A353C:p.K118T;ENSG00000118276:ENST00000306851:exon4:c.A470C:p.K157T;ENSG00000118276:ENST00000383131:exon4:c.A470C:p.K157T;	0.999046796714718	0.942
18	29225320	T	A	18	31645357	y	y	exonic	B4GALT6	stopgain SNV	B4GALT6:NM_004775:exon4:c.A469T:p.K157X;	exonic	ENSG00000118276	stopgain SNV	ENSG00000118276:ENST00000237019:exon3:c.A352T:p.K118X;ENSG00000118276:ENST00000306851:exon4:c.A469T:p.K157X;ENSG00000118276:ENST00000383131:exon4:c.A469T:p.K157X;	0.786907299565483	0.56
18	29225320	T	C	18	31645357	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.A469G:p.K157E;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.A352G:p.K118E;ENSG00000118276:ENST00000306851:exon4:c.A469G:p.K157E;ENSG00000118276:ENST00000383131:exon4:c.A469G:p.K157E;	0.0191244261954982	0.166
18	29225320	T	G	18	31645357	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.A469C:p.K157Q;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.A352C:p.K118Q;ENSG00000118276:ENST00000306851:exon4:c.A469C:p.K157Q;ENSG00000118276:ENST00000383131:exon4:c.A469C:p.K157Q;	0.00786972219146417	0.178
18	29225441	T	A	18	31645478	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon4:c.A348T:p.R116R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.A231T:p.R77R;ENSG00000118276:ENST00000306851:exon4:c.A348T:p.R116R;ENSG00000118276:ENST00000383131:exon4:c.A348T:p.R116R;	3.39231939500715E-5	0.006
18	29225441	T	C	18	31645478	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon4:c.A348G:p.R116R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.A231G:p.R77R;ENSG00000118276:ENST00000306851:exon4:c.A348G:p.R116R;ENSG00000118276:ENST00000383131:exon4:c.A348G:p.R116R;	2.75202213037385E-4	0.034
18	29225441	T	G	18	31645478	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon4:c.A348C:p.R116R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.A231C:p.R77R;ENSG00000118276:ENST00000306851:exon4:c.A348C:p.R116R;ENSG00000118276:ENST00000383131:exon4:c.A348C:p.R116R;	2.15220916642786E-4	0.018
18	29225442	C	A	18	31645479	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.G347T:p.R116L;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.G230T:p.R77L;ENSG00000118276:ENST00000306851:exon4:c.G347T:p.R116L;ENSG00000118276:ENST00000383131:exon4:c.G347T:p.R116L;	0.997985422543386	0.912
18	29225442	C	G	18	31645479	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.G347C:p.R116P;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.G230C:p.R77P;ENSG00000118276:ENST00000306851:exon4:c.G347C:p.R116P;ENSG00000118276:ENST00000383131:exon4:c.G347C:p.R116P;	0.91726453044104	0.736
18	29225442	C	T	18	31645479	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon4:c.G347A:p.R116Q;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon3:c.G230A:p.R77Q;ENSG00000118276:ENST00000306851:exon4:c.G347A:p.R116Q;ENSG00000118276:ENST00000383131:exon4:c.G347A:p.R116Q;	0.632663889243959	0.406
18	29225443	C	A	18	31645480	y	y	splicing	B4GALT6(NM_004775:exon5:c.347-1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.347-1G>T;ENST00000237019:exon4:c.230-1G>T;ENST00000383131:exon5:c.347-1G>T)	.	.	0.999986675681007	0.932
18	29225443	C	G	18	31645480	y	y	splicing	B4GALT6(NM_004775:exon5:c.347-1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.347-1G>C;ENST00000237019:exon4:c.230-1G>C;ENST00000383131:exon5:c.347-1G>C)	.	.	0.999986675681007	0.932
18	29225443	C	T	18	31645480	y	y	splicing	B4GALT6(NM_004775:exon5:c.347-1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.347-1G>A;ENST00000237019:exon4:c.230-1G>A;ENST00000383131:exon5:c.347-1G>A)	.	.	0.999986675681007	0.932
18	29225444	T	A	18	31645481	y	y	splicing	B4GALT6(NM_004775:exon5:c.347-2A>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.347-2A>T;ENST00000237019:exon4:c.230-2A>T;ENST00000383131:exon5:c.347-2A>T)	.	.	0.999988247793601	0.928
18	29225444	T	C	18	31645481	y	y	splicing	B4GALT6(NM_004775:exon5:c.347-2A>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.347-2A>G;ENST00000237019:exon4:c.230-2A>G;ENST00000383131:exon5:c.347-2A>G)	.	.	0.999988247793601	0.928
18	29225444	T	G	18	31645481	y	y	splicing	B4GALT6(NM_004775:exon5:c.347-2A>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon5:c.347-2A>C;ENST00000237019:exon4:c.230-2A>C;ENST00000383131:exon5:c.347-2A>C)	.	.	0.999988247793601	0.928
18	29225445	A	C	18	31645482	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.571861326772782	0.618
18	29225445	A	G	18	31645482	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.79168156443396E-5	0.042
18	29225445	A	T	18	31645482	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00234279489763709	0.218
18	29225446	C	A	18	31645483	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	8.37737767696342E-6	0.0
18	29225446	C	G	18	31645483	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.28860440672072E-6	0.01
18	29225446	C	T	18	31645483	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.60967882123556E-6	0.004
18	29225447	A	C	18	31645484	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.93838557925762	0.528
18	29225447	A	G	18	31645484	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00188186845037901	0.012
18	29225447	A	T	18	31645484	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.99959675314509	0.926
18	29225448	A	C	18	31645485	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.756010190580502	0.464
18	29225448	A	G	18	31645485	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.41352740478679E-4	0.042
18	29225448	A	T	18	31645485	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.714753749177019	0.426
18	29225449	A	C	18	31645486	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.997526316618172	0.968
18	29225449	A	G	18	31645486	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.3592920456641E-5	0.068
18	29225449	A	T	18	31645486	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0102272513186994	0.036
18	29225450	T	A	18	31645487	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.65770953853486E-5	0.004
18	29225450	T	C	18	31645487	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998078862519615	0.996
18	29225450	T	G	18	31645487	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.65770953853486E-5	0.004
18	29225451	T	A	18	31645488	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.69323566344873E-5	0.0
18	29225451	T	C	18	31645488	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.46181838609512E-5	0.0
18	29225451	T	G	18	31645488	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.72161009724687E-5	0.0
18	29225452	A	C	18	31645489	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00545026234437616	0.17
18	29225452	A	G	18	31645489	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.03916770922111E-4	0.018
18	29225452	A	T	18	31645489	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00489794799525563	0.15
18	29225453	A	C	18	31645490	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.23698320759857	0.358
18	29225453	A	G	18	31645490	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00143192086447481	0.034
18	29225453	A	T	18	31645490	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.265356509736637	0.362
18	29225454	A	C	18	31645491	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.35648116830681	0.622
18	29225454	A	G	18	31645491	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.81426628975623E-4	0.034
18	29225454	A	T	18	31645491	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.866687736276112	0.726
18	29237931	C	A	18	31657968	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.54601864068437E-5	0.004
18	29237931	C	G	18	31657968	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.52885267495588E-5	0.004
18	29237931	C	T	18	31657968	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.26601853489082E-5	0.01
18	29237932	G	A	18	31657969	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.3125124373396E-4	0.016
18	29237932	G	C	18	31657969	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.07273877344466E-4	0.01
18	29237932	G	T	18	31657969	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.25530533316815E-4	0.012
18	29237933	A	C	18	31657970	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.988450125257053	0.778
18	29237933	A	G	18	31657970	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.996162422394641	0.878
18	29237933	A	T	18	31657970	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.99783521443828	0.718
18	29237934	C	A	18	31657971	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999981550840719	0.968
18	29237934	C	G	18	31657971	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999965845723167	0.984
18	29237934	C	T	18	31657971	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999981550840719	0.996
18	29237935	T	A	18	31657972	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999694927424245	0.904
18	29237935	T	C	18	31657972	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998554308095704	0.974
18	29237935	T	G	18	31657972	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999770537891673	0.914
18	29237936	T	A	18	31657973	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999668839492301	0.982
18	29237936	T	C	18	31657973	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.958073728230014	0.582
18	29237936	T	G	18	31657973	y	n	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999533377458378	0.958
18	29237937	A	C	18	31657974	y	n	splicing	B4GALT6(NM_004775:exon4:c.346+2T>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.346+2T>G;ENST00000237019:exon3:c.229+2T>G;ENST00000383131:exon4:c.346+2T>G)	.	.	0.999988247793601	0.928
18	29237937	A	G	18	31657974	y	n	splicing	B4GALT6(NM_004775:exon4:c.346+2T>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.346+2T>C;ENST00000237019:exon3:c.229+2T>C;ENST00000383131:exon4:c.346+2T>C)	.	.	0.99340600729494	0.622
18	29237937	A	T	18	31657974	y	n	splicing	B4GALT6(NM_004775:exon4:c.346+2T>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.346+2T>A;ENST00000237019:exon3:c.229+2T>A;ENST00000383131:exon4:c.346+2T>A)	.	.	0.999988247793601	0.928
18	29237938	C	A	18	31657975	y	n	splicing	B4GALT6(NM_004775:exon4:c.346+1G>T)	.	.	exonic;splicing	ENSG00000118276;ENSG00000118276(ENST00000306851:exon4:c.346+1G>T;ENST00000237019:exon3:c.229+1G>T;ENST00000383131:exon4:c.346+1G>T)	unknown	UNKNOWN	0.999985532734767	0.936
18	29237938	C	G	18	31657975	y	n	splicing	B4GALT6(NM_004775:exon4:c.346+1G>C)	.	.	exonic;splicing	ENSG00000118276;ENSG00000118276(ENST00000306851:exon4:c.346+1G>C;ENST00000237019:exon3:c.229+1G>C;ENST00000383131:exon4:c.346+1G>C)	unknown	UNKNOWN	0.999985532734767	0.936
18	29237938	C	T	18	31657975	y	n	splicing	B4GALT6(NM_004775:exon4:c.346+1G>A)	.	.	exonic;splicing	ENSG00000118276;ENSG00000118276(ENST00000306851:exon4:c.346+1G>A;ENST00000237019:exon3:c.229+1G>A;ENST00000383131:exon4:c.346+1G>A)	unknown	UNKNOWN	0.999985532734767	0.936
18	29237939	G	A	18	31657976	y	n	exonic	B4GALT6	stopgain SNV	B4GALT6:NM_004775:exon3:c.C346T:p.R116X;	exonic	ENSG00000118276	stopgain SNV	ENSG00000118276:ENST00000237019:exon2:c.C229T:p.R77X;ENSG00000118276:ENST00000306851:exon3:c.C346T:p.R116X;ENSG00000118276:ENST00000383131:exon3:c.C346T:p.R116X;	0.00236403082876532	0.294
18	29237939	G	C	18	31657976	y	n	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.C346G:p.R116G;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.C229G:p.R77G;ENSG00000118276:ENST00000306851:exon3:c.C346G:p.R116G;ENSG00000118276:ENST00000383131:exon3:c.C346G:p.R116G;	1.9071947696049E-4	0.33
18	29237939	G	T	18	31657976	y	n	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon3:c.C346A:p.R116R;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.C229A:p.R77R;ENSG00000118276:ENST00000306851:exon3:c.C346A:p.R116R;ENSG00000118276:ENST00000383131:exon3:c.C346A:p.R116R;	2.09872546343466E-4	0.012
18	29237940	C	A	18	31657977	y	n	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.G345T:p.M115I;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.G228T:p.M76I;ENSG00000118276:ENST00000579372:exon3:c.G213T:p.M71I;ENSG00000118276:ENST00000306851:exon3:c.G345T:p.M115I;ENSG00000118276:ENST00000383131:exon3:c.G345T:p.M115I;	0.990596357619571	0.878
18	29237940	C	G	18	31657977	y	n	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.G345C:p.M115I;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.G228C:p.M76I;ENSG00000118276:ENST00000579372:exon3:c.G213C:p.M71I;ENSG00000118276:ENST00000306851:exon3:c.G345C:p.M115I;ENSG00000118276:ENST00000383131:exon3:c.G345C:p.M115I;	0.98606775668982	0.872
18	29237940	C	T	18	31657977	y	n	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.G345A:p.M115I;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.G228A:p.M76I;ENSG00000118276:ENST00000579372:exon3:c.G213A:p.M71I;ENSG00000118276:ENST00000306851:exon3:c.G345A:p.M115I;ENSG00000118276:ENST00000383131:exon3:c.G345A:p.M115I;	0.934712790725781	0.668
18	29237941	A	C	18	31657978	y	n	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.T344G:p.M115R;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.T227G:p.M76R;ENSG00000118276:ENST00000579372:exon3:c.T212G:p.M71R;ENSG00000118276:ENST00000306851:exon3:c.T344G:p.M115R;ENSG00000118276:ENST00000383131:exon3:c.T344G:p.M115R;	0.640263657157721	0.78
18	29237941	A	G	18	31657978	y	n	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.T344C:p.M115T;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.T227C:p.M76T;ENSG00000118276:ENST00000579372:exon3:c.T212C:p.M71T;ENSG00000118276:ENST00000306851:exon3:c.T344C:p.M115T;ENSG00000118276:ENST00000383131:exon3:c.T344C:p.M115T;	0.542673710149501	0.692
18	29237941	A	T	18	31657978	y	n	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.T344A:p.M115K;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.T227A:p.M76K;ENSG00000118276:ENST00000579372:exon3:c.T212A:p.M71K;ENSG00000118276:ENST00000306851:exon3:c.T344A:p.M115K;ENSG00000118276:ENST00000383131:exon3:c.T344A:p.M115K;	0.542673710149501	0.71
18	29238051	A	C	18	31658088	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.T234G:p.D78E;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.T117G:p.D39E;ENSG00000118276:ENST00000579372:exon3:c.T102G:p.D34E;ENSG00000118276:ENST00000306851:exon3:c.T234G:p.D78E;ENSG00000118276:ENST00000383131:exon3:c.T234G:p.D78E;	0.513851498893842	0.296
18	29238051	A	G	18	31658088	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon3:c.T234C:p.D78D;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.T117C:p.D39D;ENSG00000118276:ENST00000579372:exon3:c.T102C:p.D34D;ENSG00000118276:ENST00000306851:exon3:c.T234C:p.D78D;ENSG00000118276:ENST00000383131:exon3:c.T234C:p.D78D;	0.331829197319896	0.298
18	29238051	A	T	18	31658088	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.T234A:p.D78E;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.T117A:p.D39E;ENSG00000118276:ENST00000579372:exon3:c.T102A:p.D34E;ENSG00000118276:ENST00000306851:exon3:c.T234A:p.D78E;ENSG00000118276:ENST00000383131:exon3:c.T234A:p.D78E;	0.723605859618554	0.46
18	29238052	T	A	18	31658089	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.A233T:p.D78V;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.A116T:p.D39V;ENSG00000118276:ENST00000579372:exon3:c.A101T:p.D34V;ENSG00000118276:ENST00000306851:exon3:c.A233T:p.D78V;ENSG00000118276:ENST00000383131:exon3:c.A233T:p.D78V;	0.844676289180396	0.448
18	29238052	T	C	18	31658089	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.A233G:p.D78G;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.A116G:p.D39G;ENSG00000118276:ENST00000579372:exon3:c.A101G:p.D34G;ENSG00000118276:ENST00000306851:exon3:c.A233G:p.D78G;ENSG00000118276:ENST00000383131:exon3:c.A233G:p.D78G;	0.570816023372561	0.604
18	29238052	T	G	18	31658089	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon3:c.A233C:p.D78A;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon2:c.A116C:p.D39A;ENSG00000118276:ENST00000579372:exon3:c.A101C:p.D34A;ENSG00000118276:ENST00000306851:exon3:c.A233C:p.D78A;ENSG00000118276:ENST00000383131:exon3:c.A233C:p.D78A;	0.859332839227717	0.582
18	29238053	C	A	18	31658090	y	y	splicing	B4GALT6(NM_004775:exon4:c.233-1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.233-1G>T;ENST00000237019:exon3:c.116-1G>T;ENST00000383131:exon4:c.233-1G>T;ENST00000579372:exon4:c.101-1G>T)	.	.	0.999985532734767	0.916
18	29238053	C	G	18	31658090	y	y	splicing	B4GALT6(NM_004775:exon4:c.233-1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.233-1G>C;ENST00000237019:exon3:c.116-1G>C;ENST00000383131:exon4:c.233-1G>C;ENST00000579372:exon4:c.101-1G>C)	.	.	0.999985532734767	0.914
18	29238053	C	T	18	31658090	y	y	splicing	B4GALT6(NM_004775:exon4:c.233-1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.233-1G>A;ENST00000237019:exon3:c.116-1G>A;ENST00000383131:exon4:c.233-1G>A;ENST00000579372:exon4:c.101-1G>A)	.	.	0.999985532734767	0.916
18	29238054	T	A	18	31658091	y	y	splicing	B4GALT6(NM_004775:exon4:c.233-2A>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.233-2A>T;ENST00000237019:exon3:c.116-2A>T;ENST00000383131:exon4:c.233-2A>T;ENST00000579372:exon4:c.101-2A>T)	.	.	0.999988247793601	0.9
18	29238054	T	C	18	31658091	y	y	splicing	B4GALT6(NM_004775:exon4:c.233-2A>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.233-2A>G;ENST00000237019:exon3:c.116-2A>G;ENST00000383131:exon4:c.233-2A>G;ENST00000579372:exon4:c.101-2A>G)	.	.	0.999988247793601	0.9
18	29238054	T	G	18	31658091	y	y	splicing	B4GALT6(NM_004775:exon4:c.233-2A>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon4:c.233-2A>C;ENST00000237019:exon3:c.116-2A>C;ENST00000383131:exon4:c.233-2A>C;ENST00000579372:exon4:c.101-2A>C)	.	.	0.999988247793601	0.9
18	29238055	T	A	18	31658092	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.80151924742227E-4	0.006
18	29238055	T	C	18	31658092	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.289123965212429	0.418
18	29238055	T	G	18	31658092	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.83405122568074E-4	0.05
18	29238056	G	A	18	31658093	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.52842128210576E-5	0.0
18	29238056	G	C	18	31658093	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.56426200254598E-5	0.0
18	29238056	G	T	18	31658093	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.93957685442745E-5	0.0
18	29238057	G	A	18	31658094	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.67957249953007E-4	0.012
18	29238057	G	C	18	31658094	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.89957919678184E-4	0.11
18	29238057	G	T	18	31658094	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.67357482625368E-4	0.054
18	29238058	A	C	18	31658095	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00118827018249945	0.164
18	29238058	A	G	18	31658095	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.84021411748484E-5	0.02
18	29238058	A	T	18	31658095	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00118827018249945	0.12
18	29238059	A	C	18	31658096	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00132844226134563	0.016
18	29238059	A	G	18	31658096	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.58554367642342E-4	0.026
18	29238059	A	T	18	31658096	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.3405755562889E-4	0.012
18	29238060	A	C	18	31658097	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00280156013130179	0.116
18	29238060	A	G	18	31658097	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.92575241425922E-4	0.006
18	29238060	A	T	18	31658097	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0032323396044428	0.1
18	29238061	G	A	18	31658098	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.70530329319473E-5	0.028
18	29238061	G	C	18	31658098	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00365303575649705	0.184
18	29238061	G	T	18	31658098	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00343206790334526	0.154
18	29238062	A	C	18	31658099	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0225273052825744	0.228
18	29238062	A	G	18	31658099	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0032778848180778	0.046
18	29238062	A	T	18	31658099	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00658496718467383	0.232
18	29238063	G	A	18	31658100	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	4.38658836688586E-4	0.012
18	29238063	G	C	18	31658100	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00125385950547474	0.142
18	29238063	G	T	18	31658100	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0107522977516171	0.17
18	29238064	A	C	18	31658101	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.111537079502147	0.402
18	29238064	A	G	18	31658101	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0177953587815171	0.204
18	29238064	A	T	18	31658101	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.16584450293946	0.452
18	29246211	A	C	18	31666248	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.98561944552076E-4	0.016
18	29246211	A	G	18	31666248	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.87492138430343E-4	0.022
18	29246211	A	T	18	31666248	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.67894152125472E-4	0.016
18	29246212	G	A	18	31666249	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	7.26824569549532E-5	0.0
18	29246212	G	C	18	31666249	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	7.26824569549532E-5	0.0
18	29246212	G	T	18	31666249	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.64745399314608E-5	0.0
18	29246213	T	A	18	31666250	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.08237666578776E-5	0.012
18	29246213	T	C	18	31666250	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.09095725714045E-5	0.014
18	29246213	T	G	18	31666250	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.31055427831789E-4	0.04
18	29246214	C	A	18	31666251	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.941803604171815	0.604
18	29246214	C	G	18	31666251	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.898584483889226	0.614
18	29246214	C	T	18	31666251	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.967411768086287	0.634
18	29246215	T	A	18	31666252	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.948321540830138	0.646
18	29246215	T	C	18	31666252	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.972141856204782	0.646
18	29246215	T	G	18	31666252	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.921711649674862	0.662
18	29246216	T	A	18	31666253	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.915438617267973	0.632
18	29246216	T	C	18	31666253	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00245735057791254	0.124
18	29246216	T	G	18	31666253	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.976098466002082	0.73
18	29246217	A	C	18	31666254	y	y	splicing	B4GALT6(NM_004775:exon3:c.232+2T>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.232+2T>G;ENST00000383131:exon3:c.232+2T>G;ENST00000579372:exon3:c.100+2T>G)	.	.	0.999988247793601	0.928
18	29246217	A	G	18	31666254	y	y	splicing	B4GALT6(NM_004775:exon3:c.232+2T>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.232+2T>C;ENST00000383131:exon3:c.232+2T>C;ENST00000579372:exon3:c.100+2T>C)	.	.	0.99340600729494	0.636
18	29246217	A	T	18	31666254	y	y	splicing	B4GALT6(NM_004775:exon3:c.232+2T>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.232+2T>A;ENST00000383131:exon3:c.232+2T>A;ENST00000579372:exon3:c.100+2T>A)	.	.	0.999988247793601	0.928
18	29246218	C	A	18	31666255	y	y	splicing	B4GALT6(NM_004775:exon3:c.232+1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.232+1G>T;ENST00000383131:exon3:c.232+1G>T;ENST00000579372:exon3:c.100+1G>T)	.	.	0.999985532734767	0.936
18	29246218	C	G	18	31666255	y	y	splicing	B4GALT6(NM_004775:exon3:c.232+1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.232+1G>C;ENST00000383131:exon3:c.232+1G>C;ENST00000579372:exon3:c.100+1G>C)	.	.	0.999985532734767	0.936
18	29246218	C	T	18	31666255	y	y	splicing	B4GALT6(NM_004775:exon3:c.232+1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.232+1G>A;ENST00000383131:exon3:c.232+1G>A;ENST00000579372:exon3:c.100+1G>A)	.	.	0.999985532734767	0.936
18	29246219	C	A	18	31666256	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.G232T:p.D78Y;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.G100T:p.D34Y;ENSG00000118276:ENST00000306851:exon2:c.G232T:p.D78Y;ENSG00000118276:ENST00000383131:exon2:c.G232T:p.D78Y;	0.999794615015226	0.98
18	29246219	C	G	18	31666256	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.G232C:p.D78H;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.G100C:p.D34H;ENSG00000118276:ENST00000306851:exon2:c.G232C:p.D78H;ENSG00000118276:ENST00000383131:exon2:c.G232C:p.D78H;	0.999961511022888	0.95
18	29246219	C	T	18	31666256	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.G232A:p.D78N;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.G100A:p.D34N;ENSG00000118276:ENST00000306851:exon2:c.G232A:p.D78N;ENSG00000118276:ENST00000383131:exon2:c.G232A:p.D78N;	0.999945621021627	0.972
18	29246220	T	A	18	31666257	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon2:c.A231T:p.T77T;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.A99T:p.T33T;ENSG00000118276:ENST00000306851:exon2:c.A231T:p.T77T;ENSG00000118276:ENST00000383131:exon2:c.A231T:p.T77T;	0.975848825926027	0.612
18	29246220	T	C	18	31666257	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon2:c.A231G:p.T77T;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.A99G:p.T33T;ENSG00000118276:ENST00000306851:exon2:c.A231G:p.T77T;ENSG00000118276:ENST00000383131:exon2:c.A231G:p.T77T;	0.975426619089394	0.892
18	29246220	T	G	18	31666257	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon2:c.A231C:p.T77T;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.A99C:p.T33T;ENSG00000118276:ENST00000306851:exon2:c.A231C:p.T77T;ENSG00000118276:ENST00000383131:exon2:c.A231C:p.T77T;	0.973939055296868	0.8
18	29246221	G	A	18	31666258	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.C230T:p.T77I;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.C98T:p.T33I;ENSG00000118276:ENST00000306851:exon2:c.C230T:p.T77I;ENSG00000118276:ENST00000383131:exon2:c.C230T:p.T77I;	0.997826447445016	0.71
18	29246221	G	C	18	31666258	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.C230G:p.T77R;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.C98G:p.T33R;ENSG00000118276:ENST00000306851:exon2:c.C230G:p.T77R;ENSG00000118276:ENST00000383131:exon2:c.C230G:p.T77R;	0.845566900460247	0.592
18	29246221	G	T	18	31666258	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.C230A:p.T77K;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000579372:exon2:c.C98A:p.T33K;ENSG00000118276:ENST00000306851:exon2:c.C230A:p.T77K;ENSG00000118276:ENST00000383131:exon2:c.C230A:p.T77K;	0.917130710343601	0.806
18	29246334	G	A	18	31666371	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon2:c.C117T:p.A39A;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000306851:exon2:c.C117T:p.A39A;ENSG00000118276:ENST00000383131:exon2:c.C117T:p.A39A;	2.25052724813381E-4	0.014
18	29246334	G	C	18	31666371	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon2:c.C117G:p.A39A;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000306851:exon2:c.C117G:p.A39A;ENSG00000118276:ENST00000383131:exon2:c.C117G:p.A39A;	1.59368830173561E-4	0.018
18	29246334	G	T	18	31666371	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon2:c.C117A:p.A39A;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000306851:exon2:c.C117A:p.A39A;ENSG00000118276:ENST00000383131:exon2:c.C117A:p.A39A;	1.32348860236619E-4	0.008
18	29246335	G	A	18	31666372	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.C116T:p.A39V;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000306851:exon2:c.C116T:p.A39V;ENSG00000118276:ENST00000383131:exon2:c.C116T:p.A39V;	0.00142336882866869	0.178
18	29246335	G	C	18	31666372	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.C116G:p.A39G;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000306851:exon2:c.C116G:p.A39G;ENSG00000118276:ENST00000383131:exon2:c.C116G:p.A39G;	0.0473234032666904	0.252
18	29246335	G	T	18	31666372	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon2:c.C116A:p.A39D;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000306851:exon2:c.C116A:p.A39D;ENSG00000118276:ENST00000383131:exon2:c.C116A:p.A39D;	0.288401828429389	0.58
18	29246336	C	A	18	31666373	y	y	splicing	B4GALT6(NM_004775:exon3:c.116-1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.116-1G>T;ENST00000383131:exon3:c.116-1G>T)	.	.	0.999990361384395	0.936
18	29246336	C	G	18	31666373	y	y	splicing	B4GALT6(NM_004775:exon3:c.116-1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.116-1G>C;ENST00000383131:exon3:c.116-1G>C)	.	.	0.999990361384395	0.936
18	29246336	C	T	18	31666373	y	y	splicing	B4GALT6(NM_004775:exon3:c.116-1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.116-1G>A;ENST00000383131:exon3:c.116-1G>A)	.	.	0.999990361384395	0.938
18	29246337	T	A	18	31666374	y	y	splicing	B4GALT6(NM_004775:exon3:c.116-2A>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.116-2A>T;ENST00000383131:exon3:c.116-2A>T)	.	.	0.999988247793601	0.93
18	29246337	T	C	18	31666374	y	y	splicing	B4GALT6(NM_004775:exon3:c.116-2A>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.116-2A>G;ENST00000383131:exon3:c.116-2A>G)	.	.	0.999988247793601	0.93
18	29246337	T	G	18	31666374	y	y	splicing	B4GALT6(NM_004775:exon3:c.116-2A>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon3:c.116-2A>C;ENST00000383131:exon3:c.116-2A>C)	.	.	0.999988247793601	0.93
18	29246338	A	C	18	31666375	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.991864739545999	0.662
18	29246338	A	G	18	31666375	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	6.11284226169876E-5	0.012
18	29246338	A	T	18	31666375	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00461970314888151	0.168
18	29246339	T	A	18	31666376	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.11766341923849E-5	0.0
18	29246339	T	C	18	31666376	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.33664216369526E-5	0.0
18	29246339	T	G	18	31666376	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.15883371227213E-5	0.004
18	29246340	A	C	18	31666377	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00167331164853327	0.186
18	29246340	A	G	18	31666377	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.0692779409485E-4	0.0
18	29246340	A	T	18	31666377	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00173721046250989	0.192
18	29246341	A	C	18	31666378	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00239343391094244	0.084
18	29246341	A	G	18	31666378	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	7.02045823288809E-5	0.002
18	29246341	A	T	18	31666378	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00355394005370064	0.07
18	29246342	A	C	18	31666379	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00270862159726996	0.032
18	29246342	A	G	18	31666379	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.01125448679797E-4	0.0
18	29246342	A	T	18	31666379	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00179728343311336	0.056
18	29246343	A	C	18	31666380	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00183725332528282	0.056
18	29246343	A	G	18	31666380	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.4486108784612E-5	0.008
18	29246343	A	T	18	31666380	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00183891271785199	0.118
18	29246344	G	A	18	31666381	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.75071570202617E-5	0.008
18	29246344	G	C	18	31666381	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.63590053551951E-4	0.014
18	29246344	G	T	18	31666381	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	9.80124475426505E-5	0.002
18	29246345	A	C	18	31666382	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	8.1617371996727E-4	0.136
18	29246345	A	G	18	31666382	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	8.14611515518511E-5	0.0
18	29246345	A	T	18	31666382	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00173730672978902	0.18
18	29246346	A	C	18	31666383	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.61319934551032E-4	0.156
18	29246346	A	G	18	31666383	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.11575015296188E-4	0.044
18	29246346	A	T	18	31666383	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.9242623113586E-4	0.192
18	29246347	A	C	18	31666384	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.0010687221964698	0.102
18	29246347	A	G	18	31666384	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.98040157623774E-4	0.008
18	29246347	A	T	18	31666384	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00233168745821168	0.102
18	29264267	G	A	18	31684304	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.29269903142938E-4	0.02
18	29264267	G	C	18	31684304	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.12992581955489E-4	0.012
18	29264267	G	T	18	31684304	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	1.47998215041761E-4	0.006
18	29264268	T	A	18	31684305	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00239831035207729	0.038
18	29264268	T	C	18	31684305	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00205679116425876	0.082
18	29264268	T	G	18	31684305	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.00205679116425876	0.068
18	29264269	G	A	18	31684306	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	3.00680366984349E-4	0.108
18	29264269	G	C	18	31684306	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	2.9651276919564E-4	0.09
18	29264269	G	T	18	31684306	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	5.44138573215913E-4	0.098
18	29264270	C	A	18	31684307	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999956459922446	0.882
18	29264270	C	G	18	31684307	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999887944454179	0.942
18	29264270	C	T	18	31684307	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999971155525049	0.976
18	29264271	T	A	18	31684308	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.987922381007456	0.656
18	29264271	T	C	18	31684308	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.993175674595697	0.754
18	29264271	T	G	18	31684308	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.977621033506379	0.608
18	29264272	T	A	18	31684309	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.999868321004599	0.872
18	29264272	T	C	18	31684309	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.108184430989039	0.308
18	29264272	T	G	18	31684309	y	y	intronic	B4GALT6	.	.	intronic	ENSG00000118276	.	.	0.998510113735522	0.924
18	29264273	A	C	18	31684310	y	y	splicing	B4GALT6(NM_004775:exon2:c.115+2T>G)	.	.	splicing	ENSG00000118276(ENST00000306851:exon2:c.115+2T>G;ENST00000237019:exon2:c.115+2T>G;ENST00000383131:exon2:c.115+2T>G)	.	.	0.999981808176352	0.924
18	29264273	A	G	18	31684310	y	y	splicing	B4GALT6(NM_004775:exon2:c.115+2T>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon2:c.115+2T>C;ENST00000237019:exon2:c.115+2T>C;ENST00000383131:exon2:c.115+2T>C)	.	.	0.999923863203113	0.884
18	29264273	A	T	18	31684310	y	y	splicing	B4GALT6(NM_004775:exon2:c.115+2T>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon2:c.115+2T>A;ENST00000237019:exon2:c.115+2T>A;ENST00000383131:exon2:c.115+2T>A)	.	.	0.999981808176352	0.924
18	29264274	C	A	18	31684311	y	y	splicing	B4GALT6(NM_004775:exon2:c.115+1G>T)	.	.	splicing	ENSG00000118276(ENST00000306851:exon2:c.115+1G>T;ENST00000237019:exon2:c.115+1G>T;ENST00000383131:exon2:c.115+1G>T)	.	.	0.99999160924781	0.932
18	29264274	C	G	18	31684311	y	y	splicing	B4GALT6(NM_004775:exon2:c.115+1G>C)	.	.	splicing	ENSG00000118276(ENST00000306851:exon2:c.115+1G>C;ENST00000237019:exon2:c.115+1G>C;ENST00000383131:exon2:c.115+1G>C)	.	.	0.99999160924781	0.932
18	29264274	C	T	18	31684311	y	y	splicing	B4GALT6(NM_004775:exon2:c.115+1G>A)	.	.	splicing	ENSG00000118276(ENST00000306851:exon2:c.115+1G>A;ENST00000237019:exon2:c.115+1G>A;ENST00000383131:exon2:c.115+1G>A)	.	.	0.99999160924781	0.932
18	29264275	C	A	18	31684312	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon1:c.G115T:p.A39S;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.G115T:p.D39Y;ENSG00000118276:ENST00000306851:exon1:c.G115T:p.A39S;ENSG00000118276:ENST00000383131:exon1:c.G115T:p.A39S;	0.999983881497885	0.964
18	29264275	C	G	18	31684312	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon1:c.G115C:p.A39P;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.G115C:p.D39H;ENSG00000118276:ENST00000306851:exon1:c.G115C:p.A39P;ENSG00000118276:ENST00000383131:exon1:c.G115C:p.A39P;	0.99999350660167	0.92
18	29264275	C	T	18	31684312	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon1:c.G115A:p.A39T;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.G115A:p.D39N;ENSG00000118276:ENST00000306851:exon1:c.G115A:p.A39T;ENSG00000118276:ENST00000383131:exon1:c.G115A:p.A39T;	0.999975727175199	0.946
18	29264276	G	A	18	31684313	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon1:c.C114T:p.I38I;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.C114T:p.I38I;ENSG00000118276:ENST00000306851:exon1:c.C114T:p.I38I;ENSG00000118276:ENST00000383131:exon1:c.C114T:p.I38I;	2.88303666988728E-4	0.08
18	29264276	G	C	18	31684313	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon1:c.C114G:p.I38M;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.C114G:p.I38M;ENSG00000118276:ENST00000306851:exon1:c.C114G:p.I38M;ENSG00000118276:ENST00000383131:exon1:c.C114G:p.I38M;	2.57226927987015E-4	0.158
18	29264276	G	T	18	31684313	y	y	exonic	B4GALT6	synonymous SNV	B4GALT6:NM_004775:exon1:c.C114A:p.I38I;	exonic	ENSG00000118276	synonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.C114A:p.I38I;ENSG00000118276:ENST00000306851:exon1:c.C114A:p.I38I;ENSG00000118276:ENST00000383131:exon1:c.C114A:p.I38I;	5.85334866069091E-4	0.234
18	29264277	A	C	18	31684314	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon1:c.T113G:p.I38S;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.T113G:p.I38S;ENSG00000118276:ENST00000306851:exon1:c.T113G:p.I38S;ENSG00000118276:ENST00000383131:exon1:c.T113G:p.I38S;	0.0316493269036144	0.216
18	29264277	A	G	18	31684314	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon1:c.T113C:p.I38T;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.T113C:p.I38T;ENSG00000118276:ENST00000306851:exon1:c.T113C:p.I38T;ENSG00000118276:ENST00000383131:exon1:c.T113C:p.I38T;	0.0035053162605816	0.124
18	29264277	A	T	18	31684314	y	y	exonic	B4GALT6	nonsynonymous SNV	B4GALT6:NM_004775:exon1:c.T113A:p.I38N;	exonic	ENSG00000118276	nonsynonymous SNV	ENSG00000118276:ENST00000237019:exon1:c.T113A:p.I38N;ENSG00000118276:ENST00000306851:exon1:c.T113A:p.I38N;ENSG00000118276:ENST00000383131:exon1:c.T113A:p.I38N;	0.0129047017779279	0.242
18	29410951	G	A	18	31830988	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon29:c.C4075T:p.P1359S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon29:c.C3913T:p.P1305S;ENSG00000153339:ENST00000283351:exon29:c.C4075T:p.P1359S;	7.32416696122625E-6	0.016
18	29410951	G	C	18	31830988	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon29:c.C4075G:p.P1359A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon29:c.C3913G:p.P1305A;ENSG00000153339:ENST00000283351:exon29:c.C4075G:p.P1359A;	1.57135869669106E-5	0.03
18	29410951	G	T	18	31830988	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon29:c.C4075A:p.P1359T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon29:c.C3913A:p.P1305T;ENSG00000153339:ENST00000283351:exon29:c.C4075A:p.P1359T;	9.22180541291099E-5	0.042
18	29410952	A	C	18	31830989	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon29:c.T4074G:p.S1358R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon29:c.T3912G:p.S1304R;ENSG00000153339:ENST00000283351:exon29:c.T4074G:p.S1358R;	2.38563491542196E-4	0.138
18	29410952	A	G	18	31830989	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon29:c.T4074C:p.S1358S;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon29:c.T3912C:p.S1304S;ENSG00000153339:ENST00000283351:exon29:c.T4074C:p.S1358S;	1.01846810123266E-4	0.004
18	29410952	A	T	18	31830989	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon29:c.T4074A:p.S1358R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon29:c.T3912A:p.S1304R;ENSG00000153339:ENST00000283351:exon29:c.T4074A:p.S1358R;	8.07864460519477E-5	0.004
18	29410953	C	A	18	31830990	y	y	splicing	TRAPPC8(NM_014939:exon30:c.4074-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon30:c.4074-1G>T;ENST00000580104:exon31:c.3812-1G>T;ENST00000582539:exon30:c.3912-1G>T)	.	.	0.99994568797423	0.932
18	29410953	C	G	18	31830990	y	y	splicing	TRAPPC8(NM_014939:exon30:c.4074-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon30:c.4074-1G>C;ENST00000580104:exon31:c.3812-1G>C;ENST00000582539:exon30:c.3912-1G>C)	.	.	0.99994568797423	0.932
18	29410953	C	T	18	31830990	y	y	splicing	TRAPPC8(NM_014939:exon30:c.4074-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon30:c.4074-1G>A;ENST00000580104:exon31:c.3812-1G>A;ENST00000582539:exon30:c.3912-1G>A)	.	.	0.99994568797423	0.918
18	29410954	T	A	18	31830991	y	y	splicing	TRAPPC8(NM_014939:exon30:c.4074-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon30:c.4074-2A>T;ENST00000580104:exon31:c.3812-2A>T;ENST00000582539:exon30:c.3912-2A>T)	.	.	0.99996509239462	0.944
18	29410954	T	C	18	31830991	y	y	splicing	TRAPPC8(NM_014939:exon30:c.4074-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon30:c.4074-2A>G;ENST00000580104:exon31:c.3812-2A>G;ENST00000582539:exon30:c.3912-2A>G)	.	.	0.999965414246739	0.946
18	29410954	T	G	18	31830991	y	y	splicing	TRAPPC8(NM_014939:exon30:c.4074-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon30:c.4074-2A>C;ENST00000580104:exon31:c.3812-2A>C;ENST00000582539:exon30:c.3912-2A>C)	.	.	0.999965414246739	0.934
18	29410955	A	C	18	31830992	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99947142175476	0.778
18	29410955	A	G	18	31830992	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.51151307246708E-4	0.03
18	29410955	A	T	18	31830992	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.221965102898743	0.478
18	29410956	A	C	18	31830993	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.22464319159462E-5	0.006
18	29410956	A	G	18	31830993	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.43555237441653E-5	0.01
18	29410956	A	T	18	31830993	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.96699144809247E-6	0.008
18	29410957	G	A	18	31830994	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.66576784750739E-5	0.0
18	29410957	G	C	18	31830994	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00201007109024144	0.236
18	29410957	G	T	18	31830994	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.01080690102081E-4	0.114
18	29410958	G	A	18	31830995	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.906700363097E-5	0.0
18	29410958	G	C	18	31830995	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00122219899118217	0.204
18	29410958	G	T	18	31830995	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0010548968839046	0.174
18	29410959	G	A	18	31830996	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.04478887346903E-5	0.024
18	29410959	G	C	18	31830996	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.10022361331449E-4	0.184
18	29410959	G	T	18	31830996	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.8574015594044E-4	0.17
18	29410960	A	C	18	31830997	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.18985552616382E-5	0.038
18	29410960	A	G	18	31830997	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.47044836880869E-6	0.0
18	29410960	A	T	18	31830997	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.13948040234309E-4	0.02
18	29410961	G	A	18	31830998	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.26848964498332E-5	0.0
18	29410961	G	C	18	31830998	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.25394598573372E-4	0.038
18	29410961	G	T	18	31830998	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.0015550456434E-4	0.058
18	29410962	G	A	18	31830999	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.12477354080888E-5	0.0
18	29410962	G	C	18	31830999	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.24766719554858E-4	0.046
18	29410962	G	T	18	31830999	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00166873327727692	0.126
18	29410963	A	C	18	31831000	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0903767656884009	0.304
18	29410963	A	G	18	31831000	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00108014309376972	0.166
18	29410963	A	T	18	31831000	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.117815988731537	0.382
18	29410964	G	A	18	31831001	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.61529575969637E-6	0.0
18	29410964	G	C	18	31831001	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.98932068919176E-5	0.062
18	29410964	G	T	18	31831001	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.60065082839854E-5	0.116
18	29412039	A	C	18	31832076	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00170979375188249	0.046
18	29412039	A	G	18	31832076	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0055989374171184	0.08
18	29412039	A	T	18	31832076	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.88366915747349E-4	0.034
18	29412040	T	A	18	31832077	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00588095808164053	0.016
18	29412040	T	C	18	31832077	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.9502095703579E-4	0.0
18	29412040	T	G	18	31832077	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00104590743376294	0.0
18	29412041	C	A	18	31832078	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00314154835266564	0.166
18	29412041	C	G	18	31832078	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0474973121877111	0.31
18	29412041	C	T	18	31832078	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.030108163390088	0.146
18	29412042	T	A	18	31832079	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00425682003027346	0.086
18	29412042	T	C	18	31832079	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.57999520054651E-4	0.074
18	29412042	T	G	18	31832079	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.28584756590939E-4	0.046
18	29412043	T	A	18	31832080	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.896314287734886	0.5
18	29412043	T	C	18	31832080	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.950765179855638	0.506
18	29412043	T	G	18	31832080	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.865143976343583	0.462
18	29412044	T	A	18	31832081	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999889701940098	0.826
18	29412044	T	C	18	31832081	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999356350502781	0.826
18	29412044	T	G	18	31832081	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999839746084502	0.876
18	29412045	A	C	18	31832082	y	y	splicing	TRAPPC8(NM_014939:exon29:c.4073+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.4073+2T>G;ENST00000580104:exon30:c.3811+2T>G;ENST00000582539:exon29:c.3911+2T>G;ENST00000581057:exon3:c.239+2T>G)	.	.	0.999992446697775	0.93
18	29412045	A	G	18	31832082	y	y	splicing	TRAPPC8(NM_014939:exon29:c.4073+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.4073+2T>C;ENST00000580104:exon30:c.3811+2T>C;ENST00000582539:exon29:c.3911+2T>C;ENST00000581057:exon3:c.239+2T>C)	.	.	0.993808943985639	0.612
18	29412045	A	T	18	31832082	y	y	splicing	TRAPPC8(NM_014939:exon29:c.4073+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.4073+2T>A;ENST00000580104:exon30:c.3811+2T>A;ENST00000582539:exon29:c.3911+2T>A;ENST00000581057:exon3:c.239+2T>A)	.	.	0.999992446697775	0.93
18	29412046	C	A	18	31832083	y	y	splicing	TRAPPC8(NM_014939:exon29:c.4073+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.4073+1G>T;ENST00000580104:exon30:c.3811+1G>T;ENST00000582539:exon29:c.3911+1G>T;ENST00000581057:exon3:c.239+1G>T)	.	.	0.999988247793601	0.924
18	29412046	C	G	18	31832083	y	y	splicing	TRAPPC8(NM_014939:exon29:c.4073+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.4073+1G>C;ENST00000580104:exon30:c.3811+1G>C;ENST00000582539:exon29:c.3911+1G>C;ENST00000581057:exon3:c.239+1G>C)	.	.	0.999988247793601	0.924
18	29412046	C	T	18	31832083	y	y	splicing	TRAPPC8(NM_014939:exon29:c.4073+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.4073+1G>A;ENST00000580104:exon30:c.3811+1G>A;ENST00000582539:exon29:c.3911+1G>A;ENST00000581057:exon3:c.239+1G>A)	.	.	0.999988247793601	0.924
18	29412047	C	A	18	31832084	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.G4073T:p.S1358I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.G3911T:p.S1304I;ENSG00000153339:ENST00000581057:exon2:c.G239T:p.R80I;ENSG00000153339:ENST00000283351:exon28:c.G4073T:p.S1358I;	0.999934799392795	0.998
18	29412047	C	G	18	31832084	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.G4073C:p.S1358T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.G3911C:p.S1304T;ENSG00000153339:ENST00000581057:exon2:c.G239C:p.R80T;ENSG00000153339:ENST00000283351:exon28:c.G4073C:p.S1358T;	0.999993030188498	0.998
18	29412047	C	T	18	31832084	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.G4073A:p.S1358N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.G3911A:p.S1304N;ENSG00000153339:ENST00000581057:exon2:c.G239A:p.R80K;ENSG00000153339:ENST00000283351:exon28:c.G4073A:p.S1358N;	0.999980218558163	0.994
18	29412048	T	A	18	31832085	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.A4072T:p.S1358C;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000581057:exon2:c.A238T:p.R80X;	0.998786508527923	0.95
18	29412048	T	C	18	31832085	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.A4072G:p.S1358G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.A3910G:p.S1304G;ENSG00000153339:ENST00000581057:exon2:c.A238G:p.R80G;ENSG00000153339:ENST00000283351:exon28:c.A4072G:p.S1358G;	0.997941339310806	0.94
18	29412048	T	G	18	31832085	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.A4072C:p.S1358R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.A3910C:p.S1304R;ENSG00000153339:ENST00000283351:exon28:c.A4072C:p.S1358R;	0.984358907108486	0.82
18	29412049	T	A	18	31832086	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon28:c.A4071T:p.T1357T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.A3909T:p.T1303T;ENSG00000153339:ENST00000581057:exon2:c.A237T:p.T79T;ENSG00000153339:ENST00000283351:exon28:c.A4071T:p.T1357T;	0.0637415047242679	0.48
18	29412049	T	C	18	31832086	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon28:c.A4071G:p.T1357T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.A3909G:p.T1303T;ENSG00000153339:ENST00000581057:exon2:c.A237G:p.T79T;ENSG00000153339:ENST00000283351:exon28:c.A4071G:p.T1357T;	0.00184331416215095	0.012
18	29412049	T	G	18	31832086	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon28:c.A4071C:p.T1357T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.A3909C:p.T1303T;ENSG00000153339:ENST00000581057:exon2:c.A237C:p.T79T;ENSG00000153339:ENST00000283351:exon28:c.A4071C:p.T1357T;	6.27564929082715E-4	0.0
18	29412135	G	A	18	31832172	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.C3985T:p.L1329F;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.C3823T:p.L1275F;ENSG00000153339:ENST00000581057:exon2:c.C151T:p.L51F;ENSG00000153339:ENST00000283351:exon28:c.C3985T:p.L1329F;	9.81929686813016E-4	0.02
18	29412135	G	C	18	31832172	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.C3985G:p.L1329V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.C3823G:p.L1275V;ENSG00000153339:ENST00000581057:exon2:c.C151G:p.L51V;ENSG00000153339:ENST00000283351:exon28:c.C3985G:p.L1329V;	9.4294040611255E-4	0.018
18	29412135	G	T	18	31832172	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.C3985A:p.L1329I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.C3823A:p.L1275I;ENSG00000153339:ENST00000581057:exon2:c.C151A:p.L51I;ENSG00000153339:ENST00000283351:exon28:c.C3985A:p.L1329I;	0.00265024994778592	0.042
18	29412136	G	A	18	31832173	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon28:c.C3984T:p.S1328S;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.C3822T:p.S1274S;ENSG00000153339:ENST00000581057:exon2:c.C150T:p.S50S;ENSG00000153339:ENST00000283351:exon28:c.C3984T:p.S1328S;	8.95288853240128E-4	0.068
18	29412136	G	C	18	31832173	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.C3984G:p.S1328R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.C3822G:p.S1274R;ENSG00000153339:ENST00000581057:exon2:c.C150G:p.S50R;ENSG00000153339:ENST00000283351:exon28:c.C3984G:p.S1328R;	4.35314135877398E-5	0.052
18	29412136	G	T	18	31832173	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon28:c.C3984A:p.S1328R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon28:c.C3822A:p.S1274R;ENSG00000153339:ENST00000581057:exon2:c.C150A:p.S50R;ENSG00000153339:ENST00000283351:exon28:c.C3984A:p.S1328R;	3.56756378863227E-5	0.002
18	29412137	C	A	18	31832174	y	y	splicing	TRAPPC8(NM_014939:exon29:c.3984-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.3984-1G>T;ENST00000580104:exon30:c.3722-1G>T;ENST00000582539:exon29:c.3822-1G>T;ENST00000581057:exon3:c.150-1G>T)	.	.	0.999988247793601	0.922
18	29412137	C	G	18	31832174	y	y	splicing	TRAPPC8(NM_014939:exon29:c.3984-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.3984-1G>C;ENST00000580104:exon30:c.3722-1G>C;ENST00000582539:exon29:c.3822-1G>C;ENST00000581057:exon3:c.150-1G>C)	.	.	0.999988247793601	0.922
18	29412137	C	T	18	31832174	y	y	splicing	TRAPPC8(NM_014939:exon29:c.3984-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.3984-1G>A;ENST00000580104:exon30:c.3722-1G>A;ENST00000582539:exon29:c.3822-1G>A;ENST00000581057:exon3:c.150-1G>A)	.	.	0.999988247793601	0.922
18	29412138	T	A	18	31832175	y	y	splicing	TRAPPC8(NM_014939:exon29:c.3984-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.3984-2A>T;ENST00000580104:exon30:c.3722-2A>T;ENST00000582539:exon29:c.3822-2A>T;ENST00000581057:exon3:c.150-2A>T)	.	.	0.999992446697775	0.928
18	29412138	T	C	18	31832175	y	y	splicing	TRAPPC8(NM_014939:exon29:c.3984-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.3984-2A>G;ENST00000580104:exon30:c.3722-2A>G;ENST00000582539:exon29:c.3822-2A>G;ENST00000581057:exon3:c.150-2A>G)	.	.	0.999992446697775	0.928
18	29412138	T	G	18	31832175	y	y	splicing	TRAPPC8(NM_014939:exon29:c.3984-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon29:c.3984-2A>C;ENST00000580104:exon30:c.3722-2A>C;ENST00000582539:exon29:c.3822-2A>C;ENST00000581057:exon3:c.150-2A>C)	.	.	0.999992446697775	0.928
18	29412139	A	C	18	31832176	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.990830281496061	0.658
18	29412139	A	G	18	31832176	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.32284392532948E-4	0.016
18	29412139	A	T	18	31832176	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0205376128630224	0.202
18	29412140	T	A	18	31832177	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.38491888296949E-4	0.026
18	29412140	T	C	18	31832177	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.12324707596121E-4	0.006
18	29412140	T	G	18	31832177	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.42353949463081E-4	0.008
18	29412141	G	A	18	31832178	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.51492734965638E-4	0.004
18	29412141	G	C	18	31832178	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00468027669050093	0.146
18	29412141	G	T	18	31832178	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00652537931395317	0.128
18	29412142	G	A	18	31832179	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.85137646542225E-5	0.014
18	29412142	G	C	18	31832179	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00239506635939481	0.096
18	29412142	G	T	18	31832179	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00328664542179289	0.11
18	29412143	A	C	18	31832180	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0021124941897359	0.048
18	29412143	A	G	18	31832180	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.99731371761171E-5	0.004
18	29412143	A	T	18	31832180	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00984534803370857	0.124
18	29412144	A	C	18	31832181	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00768344588099082	0.066
18	29412144	A	G	18	31832181	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00229185840655465	0.06
18	29412144	A	T	18	31832181	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0145680424790715	0.084
18	29412145	G	A	18	31832182	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0308351472950182	0.296
18	29412145	G	C	18	31832182	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00598416874026369	0.126
18	29412145	G	T	18	31832182	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0162076329723707	0.122
18	29412146	A	C	18	31832183	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0110909361703501	0.116
18	29412146	A	G	18	31832183	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0022722100177587	0.02
18	29412146	A	T	18	31832183	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0299430935017152	0.16
18	29412147	A	C	18	31832184	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.50791848315134E-4	0.15
18	29412147	A	G	18	31832184	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.71722238092986E-4	0.052
18	29412147	A	T	18	31832184	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00125204962250139	0.19
18	29412148	A	C	18	31832185	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00571720110270304	0.13
18	29412148	A	G	18	31832185	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00156050695813853	0.034
18	29412148	A	T	18	31832185	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00908109293138355	0.166
18	29419267	G	A	18	31839304	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.616925007394E-4	0.014
18	29419267	G	C	18	31839304	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.1322211618148E-4	0.038
18	29419267	G	T	18	31839304	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.71654733397258E-4	0.024
18	29419268	C	A	18	31839305	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.07307062370878E-4	0.008
18	29419268	C	G	18	31839305	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.45222412500579E-5	0.0
18	29419268	C	T	18	31839305	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.41282646946141E-4	0.0
18	29419269	T	A	18	31839306	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.82922553508717E-4	0.028
18	29419269	T	C	18	31839306	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.82395971192647E-4	0.006
18	29419269	T	G	18	31839306	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.56184919675912E-4	0.076
18	29419270	C	A	18	31839307	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99995166339301	0.99
18	29419270	C	G	18	31839307	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999977378562543	0.998
18	29419270	C	T	18	31839307	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999957787708902	0.994
18	29419271	A	C	18	31839308	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00483528916964793	0.1
18	29419271	A	G	18	31839308	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.129420251031447	0.252
18	29419271	A	T	18	31839308	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00132227385697351	0.05
18	29419272	A	C	18	31839309	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.49228387422061E-4	0.036
18	29419272	A	G	18	31839309	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00372172301888043	0.156
18	29419272	A	T	18	31839309	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.35145202110206E-4	0.062
18	29419273	A	C	18	31839310	y	y	splicing	TRAPPC8(NM_014939:exon28:c.3983+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon28:c.3983+2T>G;ENST00000580104:exon29:c.3721+2T>G;ENST00000582539:exon28:c.3821+2T>G;ENST00000581057:exon2:c.149+2T>G)	.	.	0.999988247793601	0.918
18	29419273	A	G	18	31839310	y	y	splicing	TRAPPC8(NM_014939:exon28:c.3983+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon28:c.3983+2T>C;ENST00000580104:exon29:c.3721+2T>C;ENST00000582539:exon28:c.3821+2T>C;ENST00000581057:exon2:c.149+2T>C)	.	.	0.99991522016916	0.892
18	29419273	A	T	18	31839310	y	y	splicing	TRAPPC8(NM_014939:exon28:c.3983+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon28:c.3983+2T>A;ENST00000580104:exon29:c.3721+2T>A;ENST00000582539:exon28:c.3821+2T>A;ENST00000581057:exon2:c.149+2T>A)	.	.	0.999988247793601	0.92
18	29419274	C	A	18	31839311	y	y	splicing	TRAPPC8(NM_014939:exon28:c.3983+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon28:c.3983+1G>T;ENST00000580104:exon29:c.3721+1G>T;ENST00000582539:exon28:c.3821+1G>T;ENST00000581057:exon2:c.149+1G>T)	.	.	0.999990361384395	0.93
18	29419274	C	G	18	31839311	y	y	splicing	TRAPPC8(NM_014939:exon28:c.3983+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon28:c.3983+1G>C;ENST00000580104:exon29:c.3721+1G>C;ENST00000582539:exon28:c.3821+1G>C;ENST00000581057:exon2:c.149+1G>C)	.	.	0.999990361384395	0.93
18	29419274	C	T	18	31839311	y	y	splicing	TRAPPC8(NM_014939:exon28:c.3983+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon28:c.3983+1G>A;ENST00000580104:exon29:c.3721+1G>A;ENST00000582539:exon28:c.3821+1G>A;ENST00000581057:exon2:c.149+1G>A)	.	.	0.999990361384395	0.93
18	29419275	C	A	18	31839312	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.G3983T:p.S1328I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.G3821T:p.S1274I;ENSG00000153339:ENST00000581057:exon1:c.G149T:p.S50I;ENSG00000153339:ENST00000283351:exon27:c.G3983T:p.S1328I;	0.999945930922562	0.968
18	29419275	C	G	18	31839312	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.G3983C:p.S1328T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.G3821C:p.S1274T;ENSG00000153339:ENST00000581057:exon1:c.G149C:p.S50T;ENSG00000153339:ENST00000283351:exon27:c.G3983C:p.S1328T;	0.999988811662098	0.996
18	29419275	C	T	18	31839312	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.G3983A:p.S1328N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.G3821A:p.S1274N;ENSG00000153339:ENST00000581057:exon1:c.G149A:p.S50N;ENSG00000153339:ENST00000283351:exon27:c.G3983A:p.S1328N;	0.999975556384893	0.988
18	29419276	T	A	18	31839313	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.A3982T:p.S1328C;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3820T:p.S1274C;ENSG00000153339:ENST00000581057:exon1:c.A148T:p.S50C;ENSG00000153339:ENST00000283351:exon27:c.A3982T:p.S1328C;	0.999873157534864	0.988
18	29419276	T	C	18	31839313	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.A3982G:p.S1328G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3820G:p.S1274G;ENSG00000153339:ENST00000581057:exon1:c.A148G:p.S50G;ENSG00000153339:ENST00000283351:exon27:c.A3982G:p.S1328G;	0.999853331637091	0.992
18	29419276	T	G	18	31839313	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.A3982C:p.S1328R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3820C:p.S1274R;ENSG00000153339:ENST00000581057:exon1:c.A148C:p.S50R;ENSG00000153339:ENST00000283351:exon27:c.A3982C:p.S1328R;	0.999700993697783	0.992
18	29419277	T	A	18	31839314	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.A3981T:p.K1327N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3819T:p.K1273N;ENSG00000153339:ENST00000581057:exon1:c.A147T:p.K49N;ENSG00000153339:ENST00000283351:exon27:c.A3981T:p.K1327N;	0.969856940409029	0.642
18	29419277	T	C	18	31839314	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon27:c.A3981G:p.K1327K;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3819G:p.K1273K;ENSG00000153339:ENST00000581057:exon1:c.A147G:p.K49K;ENSG00000153339:ENST00000283351:exon27:c.A3981G:p.K1327K;	0.00722460944086592	0.218
18	29419277	T	G	18	31839314	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.A3981C:p.K1327N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3819C:p.K1273N;ENSG00000153339:ENST00000581057:exon1:c.A147C:p.K49N;ENSG00000153339:ENST00000283351:exon27:c.A3981C:p.K1327N;	2.33724504764503E-4	0.006
18	29419419	T	A	18	31839456	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.A3839T:p.E1280V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3677T:p.E1226V;ENSG00000153339:ENST00000581057:exon1:c.A5T:p.E2V;ENSG00000153339:ENST00000283351:exon27:c.A3839T:p.E1280V;	0.00136972548685916	0.012
18	29419419	T	C	18	31839456	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.A3839G:p.E1280G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3677G:p.E1226G;ENSG00000153339:ENST00000581057:exon1:c.A5G:p.E2G;ENSG00000153339:ENST00000283351:exon27:c.A3839G:p.E1280G;	0.00263818956226933	0.04
18	29419419	T	G	18	31839456	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.A3839C:p.E1280A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.A3677C:p.E1226A;ENSG00000153339:ENST00000581057:exon1:c.A5C:p.E2A;ENSG00000153339:ENST00000283351:exon27:c.A3839C:p.E1280A;	0.00270386940100852	0.022
18	29419420	C	A	18	31839457	y	n	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon27:c.G3838T:p.E1280X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon27:c.G3676T:p.E1226X;ENSG00000153339:ENST00000581057:exon1:c.G4T:p.E2X;ENSG00000153339:ENST00000283351:exon27:c.G3838T:p.E1280X;	0.998405559068435	0.768
18	29419420	C	G	18	31839457	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.G3838C:p.E1280Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.G3676C:p.E1226Q;ENSG00000153339:ENST00000581057:exon1:c.G4C:p.E2Q;ENSG00000153339:ENST00000283351:exon27:c.G3838C:p.E1280Q;	0.455412432570956	0.506
18	29419420	C	T	18	31839457	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon27:c.G3838A:p.E1280K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon27:c.G3676A:p.E1226K;ENSG00000153339:ENST00000581057:exon1:c.G4A:p.E2K;ENSG00000153339:ENST00000283351:exon27:c.G3838A:p.E1280K;	0.542914670793966	0.446
18	29419421	C	A	18	31839458	y	n	splicing	TRAPPC8(NM_014939:exon28:c.3838-1G>T)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon28:c.3838-1G>T;ENST00000580104:exon29:c.3576-1G>T;ENST00000582539:exon28:c.3676-1G>T)	nonsynonymous SNV	ENSG00000153339:ENST00000581057:exon1:c.G3T:p.Q1H;	0.999933757597683	0.94
18	29419421	C	G	18	31839458	y	n	splicing	TRAPPC8(NM_014939:exon28:c.3838-1G>C)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon28:c.3838-1G>C;ENST00000580104:exon29:c.3576-1G>C;ENST00000582539:exon28:c.3676-1G>C)	nonsynonymous SNV	ENSG00000153339:ENST00000581057:exon1:c.G3C:p.Q1H;	0.999956786857988	0.938
18	29419421	C	T	18	31839458	y	n	splicing	TRAPPC8(NM_014939:exon28:c.3838-1G>A)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon28:c.3838-1G>A;ENST00000580104:exon29:c.3576-1G>A;ENST00000582539:exon28:c.3676-1G>A)	synonymous SNV	ENSG00000153339:ENST00000581057:exon1:c.G3A:p.Q1Q;	0.999933757597683	0.932
18	29419422	T	A	18	31839459	y	n	splicing	TRAPPC8(NM_014939:exon28:c.3838-2A>T)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon28:c.3838-2A>T;ENST00000580104:exon29:c.3576-2A>T;ENST00000582539:exon28:c.3676-2A>T)	nonsynonymous SNV	ENSG00000153339:ENST00000581057:exon1:c.A2T:p.Q1L;	0.999964896440643	0.932
18	29419422	T	C	18	31839459	y	n	splicing	TRAPPC8(NM_014939:exon28:c.3838-2A>G)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon28:c.3838-2A>G;ENST00000580104:exon29:c.3576-2A>G;ENST00000582539:exon28:c.3676-2A>G)	nonsynonymous SNV	ENSG00000153339:ENST00000581057:exon1:c.A2G:p.Q1R;	0.999963671976247	0.928
18	29419422	T	G	18	31839459	y	n	splicing	TRAPPC8(NM_014939:exon28:c.3838-2A>C)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon28:c.3838-2A>C;ENST00000580104:exon29:c.3576-2A>C;ENST00000582539:exon28:c.3676-2A>C)	nonsynonymous SNV	ENSG00000153339:ENST00000581057:exon1:c.A2C:p.Q1P;	0.999963671976247	0.93
18	29419423	G	A	18	31839460	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000581057:exon1:c.C1T:p.Q1X;	0.652352695852797	0.404
18	29419423	G	C	18	31839460	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000581057:exon1:c.C1G:p.Q1E;	0.986207869561194	0.82
18	29419423	G	T	18	31839460	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000581057:exon1:c.C1A:p.Q1K;	0.13601187863839	0.404
18	29419424	A	C	18	31839461	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.77978745885032E-4	0.002
18	29419424	A	G	18	31839461	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.06425211918016E-4	0.004
18	29419424	A	T	18	31839461	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.821824429032E-4	0.0
18	29419425	G	A	18	31839462	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.57312864615908E-5	0.0
18	29419425	G	C	18	31839462	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.65521968244441E-4	0.076
18	29419425	G	T	18	31839462	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.46553986253724E-5	0.034
18	29419426	A	C	18	31839463	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.15370538464356E-4	0.214
18	29419426	A	G	18	31839463	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.10377975169453E-4	0.004
18	29419426	A	T	18	31839463	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.48615258943269E-4	0.068
18	29419427	A	C	18	31839464	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00223364581927839	0.09
18	29419427	A	G	18	31839464	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.51644267328482E-4	0.014
18	29419427	A	T	18	31839464	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00500372889351707	0.22
18	29419428	A	C	18	31839465	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.50748494625923E-5	0.054
18	29419428	A	G	18	31839465	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.04764457965036E-4	0.02
18	29419428	A	T	18	31839465	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.47171766321462E-4	0.044
18	29419429	A	C	18	31839466	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00543046608350305	0.178
18	29419429	A	G	18	31839466	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00135360962587032	0.1
18	29419429	A	T	18	31839466	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00891741734194407	0.202
18	29419430	G	A	18	31839467	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.00764318612364E-4	0.1
18	29419430	G	C	18	31839467	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.79680698295236E-5	0.034
18	29419430	G	T	18	31839467	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.57114634432877E-5	0.11
18	29419431	A	C	18	31839468	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0145737348571519	0.26
18	29419431	A	G	18	31839468	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0186474871699281	0.122
18	29419431	A	T	18	31839468	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0419790895394996	0.444
18	29419432	A	C	18	31839469	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00103550970665423	0.176
18	29419432	A	G	18	31839469	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00113759193207254	0.06
18	29419432	A	T	18	31839469	y	n	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00238249104869757	0.172
18	29426671	G	A	18	31846708	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.11398865786222E-4	0.01
18	29426671	G	C	18	31846708	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.35206152284891E-4	0.01
18	29426671	G	T	18	31846708	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.93671908044122E-4	0.01
18	29426672	T	A	18	31846709	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.84813626596702E-4	0.178
18	29426672	T	C	18	31846709	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.6377297783482E-4	0.202
18	29426672	T	G	18	31846709	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.21148906416976E-4	0.002
18	29426673	T	A	18	31846710	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.88581921285872E-5	0.042
18	29426673	T	C	18	31846710	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.5501010338754E-4	0.032
18	29426673	T	G	18	31846710	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.01454239548535E-4	0.084
18	29426674	A	C	18	31846711	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.25106375831517E-4	0.028
18	29426674	A	G	18	31846711	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.43254890160844E-4	0.042
18	29426674	A	T	18	31846711	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.34694690623927E-4	0.006
18	29426675	T	A	18	31846712	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999092214385327	0.796
18	29426675	T	C	18	31846712	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998970610174712	0.828
18	29426675	T	G	18	31846712	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.713203899330514	0.542
18	29426676	C	A	18	31846713	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.898591925095299	0.674
18	29426676	C	G	18	31846713	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.503968523383107	0.586
18	29426676	C	T	18	31846713	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.62179615356978E-5	0.026
18	29426677	A	C	18	31846714	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3837+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3837+2T>G;ENST00000580104:exon28:c.3575+2T>G;ENST00000582539:exon27:c.3675+2T>G)	.	.	0.999988893522493	0.936
18	29426677	A	G	18	31846714	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3837+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3837+2T>C;ENST00000580104:exon28:c.3575+2T>C;ENST00000582539:exon27:c.3675+2T>C)	.	.	0.999949609117108	0.858
18	29426677	A	T	18	31846714	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3837+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3837+2T>A;ENST00000580104:exon28:c.3575+2T>A;ENST00000582539:exon27:c.3675+2T>A)	.	.	0.999988893522493	0.936
18	29426678	C	A	18	31846715	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3837+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3837+1G>T;ENST00000580104:exon28:c.3575+1G>T;ENST00000582539:exon27:c.3675+1G>T)	.	.	0.999984967332678	0.942
18	29426678	C	G	18	31846715	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3837+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3837+1G>C;ENST00000580104:exon28:c.3575+1G>C;ENST00000582539:exon27:c.3675+1G>C)	.	.	0.999984967332678	0.942
18	29426678	C	T	18	31846715	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3837+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3837+1G>A;ENST00000580104:exon28:c.3575+1G>A;ENST00000582539:exon27:c.3675+1G>A)	.	.	0.999984967332678	0.942
18	29426679	C	A	18	31846716	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.G3837T:p.Q1279H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.G3675T:p.Q1225H;ENSG00000153339:ENST00000283351:exon26:c.G3837T:p.Q1279H;	0.999961811220649	0.998
18	29426679	C	G	18	31846716	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.G3837C:p.Q1279H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.G3675C:p.Q1225H;ENSG00000153339:ENST00000283351:exon26:c.G3837C:p.Q1279H;	0.99998865532472	1.0
18	29426679	C	T	18	31846716	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon26:c.G3837A:p.Q1279Q;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.G3675A:p.Q1225Q;ENSG00000153339:ENST00000283351:exon26:c.G3837A:p.Q1279Q;	0.999987819726685	1.0
18	29426680	T	A	18	31846717	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.A3836T:p.Q1279L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.A3674T:p.Q1225L;ENSG00000153339:ENST00000283351:exon26:c.A3836T:p.Q1279L;	0.999883821162684	0.976
18	29426680	T	C	18	31846717	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.A3836G:p.Q1279R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.A3674G:p.Q1225R;ENSG00000153339:ENST00000283351:exon26:c.A3836G:p.Q1279R;	0.999782155576778	0.984
18	29426680	T	G	18	31846717	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.A3836C:p.Q1279P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.A3674C:p.Q1225P;ENSG00000153339:ENST00000283351:exon26:c.A3836C:p.Q1279P;	0.998257450880153	0.924
18	29426681	G	A	18	31846718	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon26:c.C3835T:p.Q1279X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon26:c.C3673T:p.Q1225X;ENSG00000153339:ENST00000283351:exon26:c.C3835T:p.Q1279X;	0.996738316351377	0.934
18	29426681	G	C	18	31846718	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.C3835G:p.Q1279E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.C3673G:p.Q1225E;ENSG00000153339:ENST00000283351:exon26:c.C3835G:p.Q1279E;	0.0630309334668905	0.122
18	29426681	G	T	18	31846718	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.C3835A:p.Q1279K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.C3673A:p.Q1225K;ENSG00000153339:ENST00000283351:exon26:c.C3835A:p.Q1279K;	0.00574663755466451	0.062
18	29426779	G	A	18	31846816	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.C3737T:p.A1246V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.C3575T:p.A1192V;ENSG00000153339:ENST00000283351:exon26:c.C3737T:p.A1246V;	0.976436620274247	0.808
18	29426779	G	C	18	31846816	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.C3737G:p.A1246G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.C3575G:p.A1192G;ENSG00000153339:ENST00000283351:exon26:c.C3737G:p.A1246G;	0.885994772583876	0.664
18	29426779	G	T	18	31846816	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.C3737A:p.A1246E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.C3575A:p.A1192E;ENSG00000153339:ENST00000283351:exon26:c.C3737A:p.A1246E;	0.984250193616068	0.798
18	29426780	C	A	18	31846817	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.G3736T:p.A1246S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.G3574T:p.A1192S;ENSG00000153339:ENST00000283351:exon26:c.G3736T:p.A1246S;	0.999879074714766	0.994
18	29426780	C	G	18	31846817	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.G3736C:p.A1246P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.G3574C:p.A1192P;ENSG00000153339:ENST00000283351:exon26:c.G3736C:p.A1246P;	0.999375618904427	0.946
18	29426780	C	T	18	31846817	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.G3736A:p.A1246T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon26:c.G3574A:p.A1192T;ENSG00000153339:ENST00000283351:exon26:c.G3736A:p.A1246T;	0.999552684586094	0.906
18	29426781	C	A	18	31846818	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3736-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3736-1G>T;ENST00000580104:exon28:c.3474-1G>T;ENST00000582539:exon27:c.3574-1G>T)	.	.	0.999985532734767	0.936
18	29426781	C	G	18	31846818	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3736-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3736-1G>C;ENST00000580104:exon28:c.3474-1G>C;ENST00000582539:exon27:c.3574-1G>C)	.	.	0.999985532734767	0.936
18	29426781	C	T	18	31846818	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3736-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3736-1G>A;ENST00000580104:exon28:c.3474-1G>A;ENST00000582539:exon27:c.3574-1G>A)	.	.	0.999985532734767	0.936
18	29426782	T	A	18	31846819	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3736-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3736-2A>T;ENST00000580104:exon28:c.3474-2A>T;ENST00000582539:exon27:c.3574-2A>T)	.	.	0.999988247793601	0.928
18	29426782	T	C	18	31846819	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3736-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3736-2A>G;ENST00000580104:exon28:c.3474-2A>G;ENST00000582539:exon27:c.3574-2A>G)	.	.	0.999988247793601	0.928
18	29426782	T	G	18	31846819	y	y	splicing	TRAPPC8(NM_014939:exon27:c.3736-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon27:c.3736-2A>C;ENST00000580104:exon28:c.3474-2A>C;ENST00000582539:exon27:c.3574-2A>C)	.	.	0.999988247793601	0.928
18	29426783	A	C	18	31846820	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999244790028759	0.736
18	29426783	A	G	18	31846820	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.01416604850446E-4	0.018
18	29426783	A	T	18	31846820	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.106503777439762	0.264
18	29426784	A	C	18	31846821	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.29367349945222E-4	0.016
18	29426784	A	G	18	31846821	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.17129904632101E-5	0.002
18	29426784	A	T	18	31846821	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.33770326619216E-4	0.018
18	29426785	A	C	18	31846822	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.962600923759941	0.714
18	29426785	A	G	18	31846822	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.84924272963182E-4	0.056
18	29426785	A	T	18	31846822	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.925676973488286	0.662
18	29426786	A	C	18	31846823	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.942011983625312	0.766
18	29426786	A	G	18	31846823	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00250659886947412	0.102
18	29426786	A	T	18	31846823	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.968707342603062	0.832
18	29426787	A	C	18	31846824	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.015705584265494	0.292
18	29426787	A	G	18	31846824	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.84808430748659E-5	0.004
18	29426787	A	T	18	31846824	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0296573862403982	0.296
18	29426788	A	C	18	31846825	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999849857117496	0.956
18	29426788	A	G	18	31846825	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00633056976589923	0.07
18	29426788	A	T	18	31846825	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.845055351751469	0.624
18	29426789	T	A	18	31846826	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.40320024304421E-5	0.076
18	29426789	T	C	18	31846826	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.85771952832504E-5	0.096
18	29426789	T	G	18	31846826	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.80425528131722E-5	0.11
18	29426790	G	A	18	31846827	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.5637330105417E-5	0.19
18	29426790	G	C	18	31846827	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.37674941219134E-5	0.104
18	29426790	G	T	18	31846827	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.04070540262487E-5	0.086
18	29426791	C	A	18	31846828	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0345621126504684	0.432
18	29426791	C	G	18	31846828	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0287043783909346	0.334
18	29426791	C	T	18	31846828	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0561130017360637	0.256
18	29426792	A	C	18	31846829	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.531100718210689	0.656
18	29426792	A	G	18	31846829	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00339384705069012	0.092
18	29426792	A	T	18	31846829	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999868648240073	0.902
18	29429521	G	A	18	31849558	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.62078690652024E-4	0.002
18	29429521	G	C	18	31849558	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.24639991900602E-4	0.002
18	29429521	G	T	18	31849558	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.16861155005857E-4	0.014
18	29429522	C	A	18	31849559	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.45607869198198E-5	0.006
18	29429522	C	G	18	31849559	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.23986773567894E-5	0.0
18	29429522	C	T	18	31849559	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.23986773567894E-5	0.0
18	29429523	A	C	18	31849560	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00321458441920344	0.166
18	29429523	A	G	18	31849560	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00485613143124419	0.202
18	29429523	A	T	18	31849560	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00924061507000011	0.23
18	29429524	C	A	18	31849561	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.337300292540327	0.566
18	29429524	C	G	18	31849561	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.415542570330733	0.544
18	29429524	C	T	18	31849561	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.569702838356735	0.554
18	29429525	A	C	18	31849562	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.31087867260095E-5	0.006
18	29429525	A	G	18	31849562	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00103508629123249	0.022
18	29429525	A	T	18	31849562	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.05649713566334E-5	0.026
18	29429526	T	A	18	31849563	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.961533166015736	0.704
18	29429526	T	C	18	31849563	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.953705728855581	0.82
18	29429526	T	G	18	31849563	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997532044003271	0.81
18	29429527	A	C	18	31849564	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3735+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3735+2T>G;ENST00000580104:exon27:c.3473+2T>G;ENST00000582539:exon26:c.3573+2T>G)	.	.	0.999988247793601	0.928
18	29429527	A	G	18	31849564	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3735+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3735+2T>C;ENST00000580104:exon27:c.3473+2T>C;ENST00000582539:exon26:c.3573+2T>C)	.	.	0.992783534660112	0.648
18	29429527	A	T	18	31849564	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3735+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3735+2T>A;ENST00000580104:exon27:c.3473+2T>A;ENST00000582539:exon26:c.3573+2T>A)	.	.	0.999988247793601	0.928
18	29429528	C	A	18	31849565	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3735+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3735+1G>T;ENST00000580104:exon27:c.3473+1G>T;ENST00000582539:exon26:c.3573+1G>T)	.	.	0.999990361384395	0.938
18	29429528	C	G	18	31849565	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3735+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3735+1G>C;ENST00000580104:exon27:c.3473+1G>C;ENST00000582539:exon26:c.3573+1G>C)	.	.	0.999990361384395	0.938
18	29429528	C	T	18	31849565	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3735+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3735+1G>A;ENST00000580104:exon27:c.3473+1G>A;ENST00000582539:exon26:c.3573+1G>A)	.	.	0.999990361384395	0.938
18	29429529	C	A	18	31849566	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.G3735T:p.K1245N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.G3573T:p.K1191N;ENSG00000153339:ENST00000283351:exon25:c.G3735T:p.K1245N;	0.999451715926653	0.984
18	29429529	C	G	18	31849566	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.G3735C:p.K1245N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.G3573C:p.K1191N;ENSG00000153339:ENST00000283351:exon25:c.G3735C:p.K1245N;	0.996959614237132	0.874
18	29429529	C	T	18	31849566	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon25:c.G3735A:p.K1245K;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.G3573A:p.K1191K;ENSG00000153339:ENST00000283351:exon25:c.G3735A:p.K1245K;	0.992906067443297	0.89
18	29429530	T	A	18	31849567	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.A3734T:p.K1245M;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.A3572T:p.K1191M;ENSG00000153339:ENST00000283351:exon25:c.A3734T:p.K1245M;	0.997387852469648	0.93
18	29429530	T	C	18	31849567	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.A3734G:p.K1245R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.A3572G:p.K1191R;ENSG00000153339:ENST00000283351:exon25:c.A3734G:p.K1245R;	0.997036918093889	0.964
18	29429530	T	G	18	31849567	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.A3734C:p.K1245T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.A3572C:p.K1191T;ENSG00000153339:ENST00000283351:exon25:c.A3734C:p.K1245T;	0.968153857364078	0.884
18	29429531	T	A	18	31849568	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon25:c.A3733T:p.K1245X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon25:c.A3571T:p.K1191X;ENSG00000153339:ENST00000283351:exon25:c.A3733T:p.K1245X;	0.959824383793388	0.752
18	29429531	T	C	18	31849568	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.A3733G:p.K1245E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.A3571G:p.K1191E;ENSG00000153339:ENST00000283351:exon25:c.A3733G:p.K1245E;	0.527120797748026	0.426
18	29429531	T	G	18	31849568	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.A3733C:p.K1245Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.A3571C:p.K1191Q;ENSG00000153339:ENST00000283351:exon25:c.A3733C:p.K1245Q;	0.138541976019752	0.35
18	29429701	A	C	18	31849738	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.T3563G:p.I1188R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.T3401G:p.I1134R;ENSG00000153339:ENST00000283351:exon25:c.T3563G:p.I1188R;	0.0539239935072779	0.292
18	29429701	A	G	18	31849738	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.T3563C:p.I1188T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.T3401C:p.I1134T;ENSG00000153339:ENST00000283351:exon25:c.T3563C:p.I1188T;	0.0223896482386235	0.174
18	29429701	A	T	18	31849738	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.T3563A:p.I1188K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.T3401A:p.I1134K;ENSG00000153339:ENST00000283351:exon25:c.T3563A:p.I1188K;	0.413879347909261	0.336
18	29429702	T	A	18	31849739	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.A3562T:p.I1188L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.A3400T:p.I1134L;ENSG00000153339:ENST00000283351:exon25:c.A3562T:p.I1188L;	0.449464001767691	0.572
18	29429702	T	C	18	31849739	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.A3562G:p.I1188V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.A3400G:p.I1134V;ENSG00000153339:ENST00000283351:exon25:c.A3562G:p.I1188V;	0.00330492822980407	0.072
18	29429702	T	G	18	31849739	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon25:c.A3562C:p.I1188L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon25:c.A3400C:p.I1134L;ENSG00000153339:ENST00000283351:exon25:c.A3562C:p.I1188L;	0.701786363833194	0.572
18	29429703	C	A	18	31849740	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3562-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3562-1G>T;ENST00000580104:exon27:c.3300-1G>T;ENST00000582539:exon26:c.3400-1G>T)	.	.	0.999985532734767	0.936
18	29429703	C	G	18	31849740	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3562-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3562-1G>C;ENST00000580104:exon27:c.3300-1G>C;ENST00000582539:exon26:c.3400-1G>C)	.	.	0.999985532734767	0.936
18	29429703	C	T	18	31849740	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3562-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3562-1G>A;ENST00000580104:exon27:c.3300-1G>A;ENST00000582539:exon26:c.3400-1G>A)	.	.	0.999985532734767	0.936
18	29429704	T	A	18	31849741	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3562-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3562-2A>T;ENST00000580104:exon27:c.3300-2A>T;ENST00000582539:exon26:c.3400-2A>T)	.	.	0.999988247793601	0.928
18	29429704	T	C	18	31849741	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3562-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3562-2A>G;ENST00000580104:exon27:c.3300-2A>G;ENST00000582539:exon26:c.3400-2A>G)	.	.	0.999988247793601	0.928
18	29429704	T	G	18	31849741	y	y	splicing	TRAPPC8(NM_014939:exon26:c.3562-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon26:c.3562-2A>C;ENST00000580104:exon27:c.3300-2A>C;ENST00000582539:exon26:c.3400-2A>C)	.	.	0.999988247793601	0.928
18	29429705	G	A	18	31849742	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.120354130898544	0.362
18	29429705	G	C	18	31849742	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999845510802842	0.91
18	29429705	G	T	18	31849742	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.985705871032218	0.64
18	29429706	T	A	18	31849743	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0163642526588067	0.284
18	29429706	T	C	18	31849743	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997533489721229	0.79
18	29429706	T	G	18	31849743	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0138234288412265	0.16
18	29429707	T	A	18	31849744	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0039021297875863	0.08
18	29429707	T	C	18	31849744	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0233095422603577	0.132
18	29429707	T	G	18	31849744	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00688286844187289	0.078
18	29429708	A	C	18	31849745	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0240974749941006	0.158
18	29429708	A	G	18	31849745	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.86007040811875E-5	0.002
18	29429708	A	T	18	31849745	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00634706150997848	0.076
18	29429709	A	C	18	31849746	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0524113371974771	0.196
18	29429709	A	G	18	31849746	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00236065580010898	0.026
18	29429709	A	T	18	31849746	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0852721301070907	0.218
18	29429710	A	C	18	31849747	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0396792311579368	0.19
18	29429710	A	G	18	31849747	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00229734902920708	0.046
18	29429710	A	T	18	31849747	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.032697256706479	0.22
18	29429711	A	C	18	31849748	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.849137908981165	0.564
18	29429711	A	G	18	31849748	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.241222067243363	0.476
18	29429711	A	T	18	31849748	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.883066568314308	0.606
18	29429712	G	A	18	31849749	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0420375575415222	0.302
18	29429712	G	C	18	31849749	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0207878651062548	0.14
18	29429712	G	T	18	31849749	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.074931246848772	0.186
18	29429713	A	C	18	31849750	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.239291747402797	0.48
18	29429713	A	G	18	31849750	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0247185511172858	0.124
18	29429713	A	T	18	31849750	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.483505615537043	0.514
18	29429714	A	C	18	31849751	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.828026916926706	0.538
18	29429714	A	G	18	31849751	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.266443487175703	0.478
18	29429714	A	T	18	31849751	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.908165814031035	0.612
18	29432401	T	A	18	31852438	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.67272766448078E-5	0.0
18	29432401	T	C	18	31852438	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.70790675364405E-5	0.0
18	29432401	T	G	18	31852438	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.58839885524609E-5	0.002
18	29432402	T	A	18	31852439	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.5080954882212E-5	0.0
18	29432402	T	C	18	31852439	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.8886929965288E-5	0.002
18	29432402	T	G	18	31852439	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.51915665924819E-5	0.002
18	29432403	G	A	18	31852440	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.27877923212688E-5	0.0
18	29432403	G	C	18	31852440	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.02051330955967E-5	0.02
18	29432403	G	T	18	31852440	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.05296962206778E-4	0.008
18	29432404	C	A	18	31852441	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.945777401294785	0.706
18	29432404	C	G	18	31852441	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.625120366678746	0.474
18	29432404	C	T	18	31852441	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.487142214937227	0.438
18	29432405	A	C	18	31852442	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00268453923681262	0.01
18	29432405	A	G	18	31852442	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.027446336321946	0.12
18	29432405	A	T	18	31852442	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00103243615149256	0.032
18	29432406	T	A	18	31852443	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999451967499105	0.974
18	29432406	T	C	18	31852443	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998096600098643	0.88
18	29432406	T	G	18	31852443	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999606545502346	0.94
18	29432407	A	C	18	31852444	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3561+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3561+2T>G;ENST00000580104:exon26:c.3299+2T>G;ENST00000582539:exon25:c.3399+2T>G)	.	.	0.999988247793601	0.92
18	29432407	A	G	18	31852444	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3561+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3561+2T>C;ENST00000580104:exon26:c.3299+2T>C;ENST00000582539:exon25:c.3399+2T>C)	.	.	0.991245725732999	0.618
18	29432407	A	T	18	31852444	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3561+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3561+2T>A;ENST00000580104:exon26:c.3299+2T>A;ENST00000582539:exon25:c.3399+2T>A)	.	.	0.999988247793601	0.926
18	29432408	C	A	18	31852445	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3561+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3561+1G>T;ENST00000580104:exon26:c.3299+1G>T;ENST00000582539:exon25:c.3399+1G>T)	.	.	0.999986675681007	0.932
18	29432408	C	G	18	31852445	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3561+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3561+1G>C;ENST00000580104:exon26:c.3299+1G>C;ENST00000582539:exon25:c.3399+1G>C)	.	.	0.999986675681007	0.932
18	29432408	C	T	18	31852445	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3561+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3561+1G>A;ENST00000580104:exon26:c.3299+1G>A;ENST00000582539:exon25:c.3399+1G>A)	.	.	0.999986675681007	0.932
18	29432409	C	A	18	31852446	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.G3561T:p.Q1187H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.G3399T:p.Q1133H;ENSG00000153339:ENST00000283351:exon24:c.G3561T:p.Q1187H;	0.999574759018521	0.986
18	29432409	C	G	18	31852446	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.G3561C:p.Q1187H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.G3399C:p.Q1133H;ENSG00000153339:ENST00000283351:exon24:c.G3561C:p.Q1187H;	0.999982875918981	0.998
18	29432409	C	T	18	31852446	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon24:c.G3561A:p.Q1187Q;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.G3399A:p.Q1133Q;ENSG00000153339:ENST00000283351:exon24:c.G3561A:p.Q1187Q;	0.999969130170134	0.974
18	29432410	T	A	18	31852447	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.A3560T:p.Q1187L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.A3398T:p.Q1133L;ENSG00000153339:ENST00000283351:exon24:c.A3560T:p.Q1187L;	0.994082153920412	0.906
18	29432410	T	C	18	31852447	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.A3560G:p.Q1187R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.A3398G:p.Q1133R;ENSG00000153339:ENST00000283351:exon24:c.A3560G:p.Q1187R;	0.970480551494185	0.808
18	29432410	T	G	18	31852447	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.A3560C:p.Q1187P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.A3398C:p.Q1133P;ENSG00000153339:ENST00000283351:exon24:c.A3560C:p.Q1187P;	0.8706250200061	0.698
18	29432411	G	A	18	31852448	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon24:c.C3559T:p.Q1187X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon24:c.C3397T:p.Q1133X;ENSG00000153339:ENST00000283351:exon24:c.C3559T:p.Q1187X;	0.998817065446503	0.952
18	29432411	G	C	18	31852448	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.C3559G:p.Q1187E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.C3397G:p.Q1133E;ENSG00000153339:ENST00000283351:exon24:c.C3559G:p.Q1187E;	0.833678832118202	0.554
18	29432411	G	T	18	31852448	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.C3559A:p.Q1187K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.C3397A:p.Q1133K;ENSG00000153339:ENST00000283351:exon24:c.C3559A:p.Q1187K;	0.962010959874552	0.74
18	29432466	C	A	18	31852503	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon24:c.G3504T:p.A1168A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.G3342T:p.A1114A;ENSG00000153339:ENST00000283351:exon24:c.G3504T:p.A1168A;	3.51701667186252E-6	0.0
18	29432466	C	G	18	31852503	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon24:c.G3504C:p.A1168A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.G3342C:p.A1114A;ENSG00000153339:ENST00000283351:exon24:c.G3504C:p.A1168A;	3.67782693118117E-5	0.0
18	29432466	C	T	18	31852503	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon24:c.G3504A:p.A1168A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.G3342A:p.A1114A;ENSG00000153339:ENST00000283351:exon24:c.G3504A:p.A1168A;	4.08487059326628E-5	0.01
18	29432467	G	A	18	31852504	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.C3503T:p.A1168V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.C3341T:p.A1114V;ENSG00000153339:ENST00000283351:exon24:c.C3503T:p.A1168V;	4.64296633931432E-5	0.044
18	29432467	G	C	18	31852504	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.C3503G:p.A1168G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.C3341G:p.A1114G;ENSG00000153339:ENST00000283351:exon24:c.C3503G:p.A1168G;	1.14027815082724E-4	0.07
18	29432467	G	T	18	31852504	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon24:c.C3503A:p.A1168E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon24:c.C3341A:p.A1114E;ENSG00000153339:ENST00000283351:exon24:c.C3503A:p.A1168E;	1.95792866086172E-5	0.0
18	29432468	C	A	18	31852505	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3503-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3503-1G>T;ENST00000580104:exon26:c.3241-1G>T;ENST00000582539:exon25:c.3341-1G>T)	.	.	0.999983125587065	0.896
18	29432468	C	G	18	31852505	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3503-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3503-1G>C;ENST00000580104:exon26:c.3241-1G>C;ENST00000582539:exon25:c.3341-1G>C)	.	.	0.999983125587065	0.896
18	29432468	C	T	18	31852505	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3503-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3503-1G>A;ENST00000580104:exon26:c.3241-1G>A;ENST00000582539:exon25:c.3341-1G>A)	.	.	0.999983125587065	0.898
18	29432469	T	A	18	31852506	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3503-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3503-2A>T;ENST00000580104:exon26:c.3241-2A>T;ENST00000582539:exon25:c.3341-2A>T)	.	.	0.999946188727699	0.946
18	29432469	T	C	18	31852506	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3503-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3503-2A>G;ENST00000580104:exon26:c.3241-2A>G;ENST00000582539:exon25:c.3341-2A>G)	.	.	0.999946188727699	0.94
18	29432469	T	G	18	31852506	y	y	splicing	TRAPPC8(NM_014939:exon25:c.3503-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon25:c.3503-2A>C;ENST00000580104:exon26:c.3241-2A>C;ENST00000582539:exon25:c.3341-2A>C)	.	.	0.999946188727699	0.942
18	29432470	A	C	18	31852507	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997278393233082	0.688
18	29432470	A	G	18	31852507	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.39367882839444E-5	0.002
18	29432470	A	T	18	31852507	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00419031957249742	0.146
18	29432471	A	C	18	31852508	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.40498780948231E-4	0.008
18	29432471	A	G	18	31852508	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.9584528161946E-4	0.006
18	29432471	A	T	18	31852508	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00120068014539788	0.022
18	29432472	A	C	18	31852509	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.963530398480163	0.724
18	29432472	A	G	18	31852509	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0419978253613756	0.234
18	29432472	A	T	18	31852509	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.927653166916212	0.718
18	29432473	A	C	18	31852510	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.143663257741423	0.326
18	29432473	A	G	18	31852510	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00105984243193189	0.07
18	29432473	A	T	18	31852510	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.123727519899078	0.328
18	29432474	A	C	18	31852511	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.20572017442077E-4	0.122
18	29432474	A	G	18	31852511	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.60674531949452E-4	0.002
18	29432474	A	T	18	31852511	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.42173553492619E-4	0.066
18	29432475	A	C	18	31852512	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00121557517106241	0.128
18	29432475	A	G	18	31852512	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.02257786438501E-4	0.01
18	29432475	A	T	18	31852512	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0105582079059952	0.116
18	29432476	C	A	18	31852513	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.22881889215642E-5	0.022
18	29432476	C	G	18	31852513	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.55327617123566E-5	0.028
18	29432476	C	T	18	31852513	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.85927536387196E-5	0.002
18	29432477	A	C	18	31852514	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00344590871252163	0.156
18	29432477	A	G	18	31852514	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.2646453281495E-5	0.016
18	29432477	A	T	18	31852514	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999948410789849	0.98
18	29432478	G	A	18	31852515	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.59251384534074E-5	0.0
18	29432478	G	C	18	31852515	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.12190336207632E-4	0.028
18	29432478	G	T	18	31852515	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.56979576968582E-5	0.004
18	29432479	G	A	18	31852516	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.05059111188853E-5	0.0
18	29432479	G	C	18	31852516	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.0527694479059E-5	0.03
18	29432479	G	T	18	31852516	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.2641312932464E-4	0.036
18	29432550	G	A	18	31852587	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.93427211819171E-5	0.054
18	29432550	G	C	18	31852587	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.73637890796074E-5	0.064
18	29432550	G	T	18	31852587	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.68619200836152E-5	0.068
18	29432551	A	C	18	31852588	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.7670923653172E-5	0.0
18	29432551	A	G	18	31852588	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.88659875748317E-5	0.0
18	29432551	A	T	18	31852588	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.88659875748317E-5	0.002
18	29432552	A	C	18	31852589	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.64477345785152E-4	0.174
18	29432552	A	G	18	31852589	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0153292924094418	0.31
18	29432552	A	T	18	31852589	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0165595935743376	0.198
18	29432553	T	A	18	31852590	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.37425199542244E-4	0.0
18	29432553	T	C	18	31852590	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.60221724950135E-5	0.01
18	29432553	T	G	18	31852590	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.09633530377348E-4	0.028
18	29432554	T	A	18	31852591	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.368487284835648	0.41
18	29432554	T	C	18	31852591	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.265732853369944	0.402
18	29432554	T	G	18	31852591	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.106655561164074	0.392
18	29432555	T	A	18	31852592	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998956936716887	0.82
18	29432555	T	C	18	31852592	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.772103914943192	0.55
18	29432555	T	G	18	31852592	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999705837348286	0.846
18	29432556	A	C	18	31852593	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3502+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3502+2T>G;ENST00000580104:exon25:c.3240+2T>G;ENST00000582539:exon24:c.3340+2T>G)	.	.	0.999984399620937	0.75
18	29432556	A	G	18	31852593	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3502+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3502+2T>C;ENST00000580104:exon25:c.3240+2T>C;ENST00000582539:exon24:c.3340+2T>C)	.	.	0.902171332561601	0.512
18	29432556	A	T	18	31852593	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3502+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3502+2T>A;ENST00000580104:exon25:c.3240+2T>A;ENST00000582539:exon24:c.3340+2T>A)	.	.	0.999980255680118	0.734
18	29432557	C	A	18	31852594	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3502+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3502+1G>T;ENST00000580104:exon25:c.3240+1G>T;ENST00000582539:exon24:c.3340+1G>T)	.	.	0.999977614472875	0.764
18	29432557	C	G	18	31852594	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3502+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3502+1G>C;ENST00000580104:exon25:c.3240+1G>C;ENST00000582539:exon24:c.3340+1G>C)	.	.	0.999982312740861	0.768
18	29432557	C	T	18	31852594	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3502+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3502+1G>A;ENST00000580104:exon25:c.3240+1G>A;ENST00000582539:exon24:c.3340+1G>A)	.	.	0.999977614472875	0.756
18	29432558	C	A	18	31852595	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.G3502T:p.A1168S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.G3340T:p.A1114S;ENSG00000153339:ENST00000283351:exon23:c.G3502T:p.A1168S;	0.999132535900772	0.92
18	29432558	C	G	18	31852595	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.G3502C:p.A1168P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.G3340C:p.A1114P;ENSG00000153339:ENST00000283351:exon23:c.G3502C:p.A1168P;	0.999971795138816	0.952
18	29432558	C	T	18	31852595	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.G3502A:p.A1168T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.G3340A:p.A1114T;ENSG00000153339:ENST00000283351:exon23:c.G3502A:p.A1168T;	0.994697788341164	0.92
18	29432559	T	A	18	31852596	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.A3501T:p.E1167D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3339T:p.E1113D;ENSG00000153339:ENST00000283351:exon23:c.A3501T:p.E1167D;	0.835517563532066	0.6
18	29432559	T	C	18	31852596	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon23:c.A3501G:p.E1167E;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3339G:p.E1113E;ENSG00000153339:ENST00000283351:exon23:c.A3501G:p.E1167E;	0.860234066725021	0.502
18	29432559	T	G	18	31852596	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.A3501C:p.E1167D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3339C:p.E1113D;ENSG00000153339:ENST00000283351:exon23:c.A3501C:p.E1167D;	0.113059901700531	0.35
18	29432560	T	A	18	31852597	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.A3500T:p.E1167V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3338T:p.E1113V;ENSG00000153339:ENST00000283351:exon23:c.A3500T:p.E1167V;	0.359553988108664	0.384
18	29432560	T	C	18	31852597	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.A3500G:p.E1167G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3338G:p.E1113G;ENSG00000153339:ENST00000283351:exon23:c.A3500G:p.E1167G;	1.91106442902666E-4	0.04
18	29432560	T	G	18	31852597	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.A3500C:p.E1167A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3338C:p.E1113A;ENSG00000153339:ENST00000283351:exon23:c.A3500C:p.E1167A;	6.07985575875157E-4	0.01
18	29432625	A	C	18	31852662	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.T3435G:p.D1145E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.T3273G:p.D1091E;ENSG00000153339:ENST00000283351:exon23:c.T3435G:p.D1145E;	1.72188068546926E-4	0.002
18	29432625	A	G	18	31852662	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon23:c.T3435C:p.D1145D;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.T3273C:p.D1091D;ENSG00000153339:ENST00000283351:exon23:c.T3435C:p.D1145D;	8.74208606340414E-5	0.006
18	29432625	A	T	18	31852662	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.T3435A:p.D1145E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.T3273A:p.D1091E;ENSG00000153339:ENST00000283351:exon23:c.T3435A:p.D1145E;	1.71810217464851E-4	0.01
18	29432626	T	A	18	31852663	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.A3434T:p.D1145V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3272T:p.D1091V;ENSG00000153339:ENST00000283351:exon23:c.A3434T:p.D1145V;	0.0153221296783762	0.168
18	29432626	T	C	18	31852663	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.A3434G:p.D1145G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3272G:p.D1091G;ENSG00000153339:ENST00000283351:exon23:c.A3434G:p.D1145G;	0.00135477151376401	0.01
18	29432626	T	G	18	31852663	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon23:c.A3434C:p.D1145A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon23:c.A3272C:p.D1091A;ENSG00000153339:ENST00000283351:exon23:c.A3434C:p.D1145A;	0.0162658137190775	0.216
18	29432627	C	A	18	31852664	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3434-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3434-1G>T;ENST00000580104:exon25:c.3172-1G>T;ENST00000582539:exon24:c.3272-1G>T)	.	.	0.999989072007339	0.934
18	29432627	C	G	18	31852664	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3434-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3434-1G>C;ENST00000580104:exon25:c.3172-1G>C;ENST00000582539:exon24:c.3272-1G>C)	.	.	0.999989072007339	0.934
18	29432627	C	T	18	31852664	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3434-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3434-1G>A;ENST00000580104:exon25:c.3172-1G>A;ENST00000582539:exon24:c.3272-1G>A)	.	.	0.999989072007339	0.934
18	29432628	T	A	18	31852665	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3434-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3434-2A>T;ENST00000580104:exon25:c.3172-2A>T;ENST00000582539:exon24:c.3272-2A>T)	.	.	0.999988247793601	0.928
18	29432628	T	C	18	31852665	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3434-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3434-2A>G;ENST00000580104:exon25:c.3172-2A>G;ENST00000582539:exon24:c.3272-2A>G)	.	.	0.999978952611685	0.93
18	29432628	T	G	18	31852665	y	y	splicing	TRAPPC8(NM_014939:exon24:c.3434-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon24:c.3434-2A>C;ENST00000580104:exon25:c.3172-2A>C;ENST00000582539:exon24:c.3272-2A>C)	.	.	0.999978952611685	0.926
18	29432629	A	C	18	31852666	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.901246843178517	0.608
18	29432629	A	G	18	31852666	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.9667458935909E-5	0.0
18	29432629	A	T	18	31852666	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00613595186888715	0.15
18	29432630	G	A	18	31852667	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00155278518769668	0.064
18	29432630	G	C	18	31852667	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.47970185774693E-4	0.02
18	29432630	G	T	18	31852667	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00122350626342999	0.04
18	29432631	G	A	18	31852668	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.37163326501772E-5	0.0
18	29432631	G	C	18	31852668	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.06690032846586E-5	0.022
18	29432631	G	T	18	31852668	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.32036169823515E-5	0.0
18	29432632	A	C	18	31852669	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0042488773252355	0.234
18	29432632	A	G	18	31852669	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.30926718964661E-4	0.036
18	29432632	A	T	18	31852669	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00518290147778807	0.182
18	29432633	A	C	18	31852670	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.00905038243946E-4	0.058
18	29432633	A	G	18	31852670	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.2856758461066E-4	0.004
18	29432633	A	T	18	31852670	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.37277443101913E-4	0.064
18	29432634	G	A	18	31852671	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.68301158686204E-5	0.0
18	29432634	G	C	18	31852671	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.76965323214955E-4	0.028
18	29432634	G	T	18	31852671	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.69607366602292E-4	0.024
18	29432635	A	C	18	31852672	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.59482735728703E-5	0.086
18	29432635	A	G	18	31852672	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.58390125241342E-5	0.004
18	29432635	A	T	18	31852672	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.78577101663453E-5	0.042
18	29432636	A	C	18	31852673	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.508087059974E-4	0.278
18	29432636	A	G	18	31852673	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.96139123514642E-4	0.036
18	29432636	A	T	18	31852673	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.58481130388525E-4	0.234
18	29432637	A	C	18	31852674	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0197571399164627	0.358
18	29432637	A	G	18	31852674	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0273534223776711	0.118
18	29432637	A	T	18	31852674	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0437501011518449	0.418
18	29432638	A	C	18	31852675	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.33025437913364E-4	0.132
18	29432638	A	G	18	31852675	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.66271344106276E-5	0.012
18	29432638	A	T	18	31852675	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.48141034569317E-4	0.074
18	29433804	A	C	18	31853841	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.99127280556036E-4	0.014
18	29433804	A	G	18	31853841	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.14464094508451E-5	0.0
18	29433804	A	T	18	31853841	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.74990408025749E-5	0.014
18	29433805	A	C	18	31853842	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.25951982785882E-5	0.0
18	29433805	A	G	18	31853842	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.33285134764126E-6	0.0
18	29433805	A	T	18	31853842	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.33285134764126E-6	0.0
18	29433806	A	C	18	31853843	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.404454397884829	0.492
18	29433806	A	G	18	31853843	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.625291196139332	0.554
18	29433806	A	T	18	31853843	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.584791225818563	0.49
18	29433807	C	A	18	31853844	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999873388499446	0.918
18	29433807	C	G	18	31853844	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999990964828062	0.98
18	29433807	C	T	18	31853844	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999645568748655	0.914
18	29433808	A	C	18	31853845	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.81739897148118E-5	0.004
18	29433808	A	G	18	31853845	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.13145853168344E-4	0.06
18	29433808	A	T	18	31853845	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.05530708642315E-5	0.03
18	29433809	A	C	18	31853846	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.88423269405715E-5	0.048
18	29433809	A	G	18	31853846	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00208742360573138	0.146
18	29433809	A	T	18	31853846	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.94619844517838E-4	0.064
18	29433810	A	C	18	31853847	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3433+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3433+2T>G;ENST00000580104:exon24:c.3171+2T>G;ENST00000582539:exon23:c.3271+2T>G)	.	.	0.999989917668626	0.92
18	29433810	A	G	18	31853847	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3433+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3433+2T>C;ENST00000580104:exon24:c.3171+2T>C;ENST00000582539:exon23:c.3271+2T>C)	.	.	0.986528855787127	0.624
18	29433810	A	T	18	31853847	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3433+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3433+2T>A;ENST00000580104:exon24:c.3171+2T>A;ENST00000582539:exon23:c.3271+2T>A)	.	.	0.999989917668626	0.922
18	29433811	C	A	18	31853848	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3433+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3433+1G>T;ENST00000580104:exon24:c.3171+1G>T;ENST00000582539:exon23:c.3271+1G>T)	.	.	0.999986675681007	0.93
18	29433811	C	G	18	31853848	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3433+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3433+1G>C;ENST00000580104:exon24:c.3171+1G>C;ENST00000582539:exon23:c.3271+1G>C)	.	.	0.999986675681007	0.93
18	29433811	C	T	18	31853848	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3433+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3433+1G>A;ENST00000580104:exon24:c.3171+1G>A;ENST00000582539:exon23:c.3271+1G>A)	.	.	0.999986675681007	0.93
18	29433812	C	A	18	31853849	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.G3433T:p.D1145Y;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.G3271T:p.D1091Y;ENSG00000153339:ENST00000283351:exon22:c.G3433T:p.D1145Y;	0.999972295817813	0.98
18	29433812	C	G	18	31853849	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.G3433C:p.D1145H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.G3271C:p.D1091H;ENSG00000153339:ENST00000283351:exon22:c.G3433C:p.D1145H;	0.999990037279557	0.998
18	29433812	C	T	18	31853849	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.G3433A:p.D1145N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.G3271A:p.D1091N;ENSG00000153339:ENST00000283351:exon22:c.G3433A:p.D1145N;	0.9999623752561	1.0
18	29433813	T	A	18	31853850	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.A3432T:p.K1144N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3270T:p.K1090N;ENSG00000153339:ENST00000283351:exon22:c.A3432T:p.K1144N;	0.991480493844391	0.702
18	29433813	T	C	18	31853850	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon22:c.A3432G:p.K1144K;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3270G:p.K1090K;ENSG00000153339:ENST00000283351:exon22:c.A3432G:p.K1144K;	0.990549349182967	0.642
18	29433813	T	G	18	31853850	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.A3432C:p.K1144N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3270C:p.K1090N;ENSG00000153339:ENST00000283351:exon22:c.A3432C:p.K1144N;	0.901542402435491	0.692
18	29433814	T	A	18	31853851	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.A3431T:p.K1144I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3269T:p.K1090I;ENSG00000153339:ENST00000283351:exon22:c.A3431T:p.K1144I;	0.726308553203116	0.572
18	29433814	T	C	18	31853851	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.A3431G:p.K1144R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3269G:p.K1090R;ENSG00000153339:ENST00000283351:exon22:c.A3431G:p.K1144R;	0.0031753385789557	0.1
18	29433814	T	G	18	31853851	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.A3431C:p.K1144T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3269C:p.K1090T;ENSG00000153339:ENST00000283351:exon22:c.A3431C:p.K1144T;	2.74471123885434E-4	0.01
18	29433907	C	A	18	31853944	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.G3338T:p.S1113I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.G3176T:p.S1059I;ENSG00000153339:ENST00000283351:exon22:c.G3338T:p.S1113I;	0.00975877120302071	0.156
18	29433907	C	G	18	31853944	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.G3338C:p.S1113T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.G3176C:p.S1059T;ENSG00000153339:ENST00000283351:exon22:c.G3338C:p.S1113T;	0.028269280693468	0.186
18	29433907	C	T	18	31853944	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.G3338A:p.S1113N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.G3176A:p.S1059N;ENSG00000153339:ENST00000283351:exon22:c.G3338A:p.S1113N;	0.212510354219843	0.442
18	29433908	T	A	18	31853945	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.A3337T:p.S1113C;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3175T:p.S1059C;ENSG00000153339:ENST00000283351:exon22:c.A3337T:p.S1113C;	0.00599373288715826	0.094
18	29433908	T	C	18	31853945	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.A3337G:p.S1113G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3175G:p.S1059G;ENSG00000153339:ENST00000283351:exon22:c.A3337G:p.S1113G;	0.00196671051940303	0.05
18	29433908	T	G	18	31853945	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon22:c.A3337C:p.S1113R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon22:c.A3175C:p.S1059R;ENSG00000153339:ENST00000283351:exon22:c.A3337C:p.S1113R;	0.00599373288715826	0.13
18	29433909	C	A	18	31853946	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3337-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3337-1G>T;ENST00000580104:exon24:c.3075-1G>T;ENST00000582539:exon23:c.3175-1G>T)	.	.	0.999986675681007	0.934
18	29433909	C	G	18	31853946	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3337-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3337-1G>C;ENST00000580104:exon24:c.3075-1G>C;ENST00000582539:exon23:c.3175-1G>C)	.	.	0.999986675681007	0.934
18	29433909	C	T	18	31853946	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3337-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3337-1G>A;ENST00000580104:exon24:c.3075-1G>A;ENST00000582539:exon23:c.3175-1G>A)	.	.	0.999986675681007	0.934
18	29433910	T	A	18	31853947	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3337-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3337-2A>T;ENST00000580104:exon24:c.3075-2A>T;ENST00000582539:exon23:c.3175-2A>T)	.	.	0.999989917668626	0.928
18	29433910	T	C	18	31853947	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3337-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3337-2A>G;ENST00000580104:exon24:c.3075-2A>G;ENST00000582539:exon23:c.3175-2A>G)	.	.	0.999989917668626	0.928
18	29433910	T	G	18	31853947	y	y	splicing	TRAPPC8(NM_014939:exon23:c.3337-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon23:c.3337-2A>C;ENST00000580104:exon24:c.3075-2A>C;ENST00000582539:exon23:c.3175-2A>C)	.	.	0.999989917668626	0.928
18	29433911	G	A	18	31853948	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00184188154339562	0.196
18	29433911	G	C	18	31853948	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999345834000012	0.764
18	29433911	G	T	18	31853948	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.637085071692362	0.388
18	29433912	T	A	18	31853949	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0763829921580661	0.312
18	29433912	T	C	18	31853949	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.026551547055097	0.14
18	29433912	T	G	18	31853949	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0105422529126176	0.18
18	29433913	C	A	18	31853950	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.95339139343975E-5	0.006
18	29433913	C	G	18	31853950	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.16631940728951E-5	0.06
18	29433913	C	T	18	31853950	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.17980991740347E-5	0.01
18	29433914	A	C	18	31853951	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0034458816912531	0.114
18	29433914	A	G	18	31853951	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.89068723525136E-5	0.012
18	29433914	A	T	18	31853951	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999541157742468	0.986
18	29433915	A	C	18	31853952	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.93131967944207E-4	0.01
18	29433915	A	G	18	31853952	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.15798242678374E-5	0.004
18	29433915	A	T	18	31853952	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00107979811173431	0.05
18	29433916	A	C	18	31853953	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0286990637615851	0.124
18	29433916	A	G	18	31853953	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00445973093276898	0.038
18	29433916	A	T	18	31853953	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0441740306081736	0.154
18	29433917	A	C	18	31853954	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.24530078111037E-4	0.12
18	29433917	A	G	18	31853954	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.73837273968276E-4	0.038
18	29433917	A	T	18	31853954	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00165761544924375	0.072
18	29433918	A	C	18	31853955	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0278353399455936	0.318
18	29433918	A	G	18	31853955	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0181149521812148	0.178
18	29433918	A	T	18	31853955	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.165101686465727	0.406
18	29433919	A	C	18	31853956	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.27623217765466E-4	0.128
18	29433919	A	G	18	31853956	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.24455794670018E-4	0.01
18	29433919	A	T	18	31853956	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00163592254212597	0.204
18	29433920	A	C	18	31853957	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.20600949393502E-4	0.072
18	29433920	A	G	18	31853957	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00115615874463937	0.036
18	29433920	A	T	18	31853957	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.7145787784893E-4	0.058
18	29435615	C	A	18	31855652	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.49525286952577E-4	0.0
18	29435615	C	G	18	31855652	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.49525286952577E-4	0.0
18	29435615	C	T	18	31855652	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.03583748961655E-4	0.0
18	29435616	A	C	18	31855653	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.22244207639756E-4	0.0
18	29435616	A	G	18	31855653	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.05918261028706E-4	0.0
18	29435616	A	T	18	31855653	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.73290656593431E-4	0.006
18	29435617	A	C	18	31855654	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995520379723418	0.894
18	29435617	A	G	18	31855654	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.97415704824172	0.832
18	29435617	A	T	18	31855654	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.994697693915397	0.806
18	29435618	C	A	18	31855655	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999973049774624	0.992
18	29435618	C	G	18	31855655	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999954404268772	0.95
18	29435618	C	T	18	31855655	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999973049774624	0.968
18	29435619	T	A	18	31855656	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.979047298718377	0.802
18	29435619	T	C	18	31855656	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.977610526984363	0.828
18	29435619	T	G	18	31855656	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.920579110896959	0.674
18	29435620	T	A	18	31855657	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999879527165482	0.988
18	29435620	T	C	18	31855657	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.527061964768494	0.35
18	29435620	T	G	18	31855657	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99983569355229	0.938
18	29435621	A	C	18	31855658	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3336+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3336+2T>G;ENST00000580104:exon23:c.3074+2T>G;ENST00000582539:exon22:c.3174+2T>G)	.	.	0.999988247793601	0.932
18	29435621	A	G	18	31855658	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3336+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3336+2T>C;ENST00000580104:exon23:c.3074+2T>C;ENST00000582539:exon22:c.3174+2T>C)	.	.	0.996218475494576	0.696
18	29435621	A	T	18	31855658	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3336+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3336+2T>A;ENST00000580104:exon23:c.3074+2T>A;ENST00000582539:exon22:c.3174+2T>A)	.	.	0.999988247793601	0.932
18	29435622	C	A	18	31855659	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3336+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3336+1G>T;ENST00000580104:exon23:c.3074+1G>T;ENST00000582539:exon22:c.3174+1G>T)	.	.	0.999989072007339	0.934
18	29435622	C	G	18	31855659	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3336+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3336+1G>C;ENST00000580104:exon23:c.3074+1G>C;ENST00000582539:exon22:c.3174+1G>C)	.	.	0.999989072007339	0.934
18	29435622	C	T	18	31855659	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3336+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3336+1G>A;ENST00000580104:exon23:c.3074+1G>A;ENST00000582539:exon22:c.3174+1G>A)	.	.	0.999989072007339	0.934
18	29435623	A	C	18	31855660	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon21:c.T3336G:p.T1112T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.T3174G:p.T1058T;ENSG00000153339:ENST00000283351:exon21:c.T3336G:p.T1112T;	8.10633777654811E-4	0.1
18	29435623	A	G	18	31855660	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon21:c.T3336C:p.T1112T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.T3174C:p.T1058T;ENSG00000153339:ENST00000283351:exon21:c.T3336C:p.T1112T;	0.00181090313411231	0.308
18	29435623	A	T	18	31855660	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon21:c.T3336A:p.T1112T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.T3174A:p.T1058T;ENSG00000153339:ENST00000283351:exon21:c.T3336A:p.T1112T;	9.80031555417779E-5	0.002
18	29435624	G	A	18	31855661	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.C3335T:p.T1112I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.C3173T:p.T1058I;ENSG00000153339:ENST00000283351:exon21:c.C3335T:p.T1112I;	0.0657876358443208	0.144
18	29435624	G	C	18	31855661	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.C3335G:p.T1112S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.C3173G:p.T1058S;ENSG00000153339:ENST00000283351:exon21:c.C3335G:p.T1112S;	0.0389845335415104	0.194
18	29435624	G	T	18	31855661	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.C3335A:p.T1112N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.C3173A:p.T1058N;ENSG00000153339:ENST00000283351:exon21:c.C3335A:p.T1112N;	0.0139569931453219	0.116
18	29435625	T	A	18	31855662	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.A3334T:p.T1112S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.A3172T:p.T1058S;ENSG00000153339:ENST00000283351:exon21:c.A3334T:p.T1112S;	0.65579254088259	0.378
18	29435625	T	C	18	31855662	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.A3334G:p.T1112A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.A3172G:p.T1058A;ENSG00000153339:ENST00000283351:exon21:c.A3334G:p.T1112A;	0.0294417937104712	0.122
18	29435625	T	G	18	31855662	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.A3334C:p.T1112P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.A3172C:p.T1058P;ENSG00000153339:ENST00000283351:exon21:c.A3334C:p.T1112P;	0.0135726076074246	0.128
18	29435769	G	A	18	31855806	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.C3190T:p.H1064Y;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.C3028T:p.H1010Y;ENSG00000153339:ENST00000283351:exon21:c.C3190T:p.H1064Y;	0.00468793978644879	0.062
18	29435769	G	C	18	31855806	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.C3190G:p.H1064D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.C3028G:p.H1010D;ENSG00000153339:ENST00000283351:exon21:c.C3190G:p.H1064D;	0.0168845492479982	0.064
18	29435769	G	T	18	31855806	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.C3190A:p.H1064N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.C3028A:p.H1010N;ENSG00000153339:ENST00000283351:exon21:c.C3190A:p.H1064N;	0.0251856813737845	0.07
18	29435770	C	A	18	31855807	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon21:c.G3189T:p.R1063R;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.G3027T:p.R1009R;ENSG00000153339:ENST00000283351:exon21:c.G3189T:p.R1063R;	0.0210277463092821	0.192
18	29435770	C	G	18	31855807	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon21:c.G3189C:p.R1063R;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.G3027C:p.R1009R;ENSG00000153339:ENST00000283351:exon21:c.G3189C:p.R1063R;	6.2748318450148E-4	0.082
18	29435770	C	T	18	31855807	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon21:c.G3189A:p.R1063R;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon21:c.G3027A:p.R1009R;ENSG00000153339:ENST00000283351:exon21:c.G3189A:p.R1063R;	1.51550500261323E-4	0.066
18	29435771	C	A	18	31855808	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3189-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3189-1G>T;ENST00000580104:exon23:c.2927-1G>T;ENST00000582539:exon22:c.3027-1G>T)	.	.	0.999978952611685	0.918
18	29435771	C	G	18	31855808	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3189-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3189-1G>C;ENST00000580104:exon23:c.2927-1G>C;ENST00000582539:exon22:c.3027-1G>C)	.	.	0.999970661931818	0.918
18	29435771	C	T	18	31855808	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3189-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3189-1G>A;ENST00000580104:exon23:c.2927-1G>A;ENST00000582539:exon22:c.3027-1G>A)	.	.	0.999978952611685	0.924
18	29435772	T	A	18	31855809	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3189-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3189-2A>T;ENST00000580104:exon23:c.2927-2A>T;ENST00000582539:exon22:c.3027-2A>T)	.	.	0.999986472513537	0.926
18	29435772	T	C	18	31855809	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3189-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3189-2A>G;ENST00000580104:exon23:c.2927-2A>G;ENST00000582539:exon22:c.3027-2A>G)	.	.	0.99996509239462	0.928
18	29435772	T	G	18	31855809	y	y	splicing	TRAPPC8(NM_014939:exon22:c.3189-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon22:c.3189-2A>C;ENST00000580104:exon23:c.2927-2A>C;ENST00000582539:exon22:c.3027-2A>C)	.	.	0.99996509239462	0.926
18	29435773	G	A	18	31855810	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.90030813612713E-4	0.148
18	29435773	G	C	18	31855810	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998901084838207	0.796
18	29435773	G	T	18	31855810	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.380534518077514	0.48
18	29435774	A	C	18	31855811	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.07637694968703E-4	0.014
18	29435774	A	G	18	31855811	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.27252116451295E-4	0.016
18	29435774	A	T	18	31855811	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.56210451285745E-4	0.006
18	29435775	A	C	18	31855812	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.442545411867292	0.466
18	29435775	A	G	18	31855812	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.16156558349668E-4	0.028
18	29435775	A	T	18	31855812	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.261764605664678	0.49
18	29435776	G	A	18	31855813	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.02018981309416E-5	0.01
18	29435776	G	C	18	31855813	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.93890778641774	0.65
18	29435776	G	T	18	31855813	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.75572212323855E-4	0.078
18	29435777	T	A	18	31855814	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.57759771040946E-6	0.0
18	29435777	T	C	18	31855814	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.400751327871164	0.658
18	29435777	T	G	18	31855814	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.02768148631568E-6	0.008
18	29435778	T	A	18	31855815	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.60455058402534E-5	0.0
18	29435778	T	C	18	31855815	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.77860503961674E-5	0.0
18	29435778	T	G	18	31855815	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.71617447096852E-6	0.0
18	29435779	A	C	18	31855816	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00183741789147809	0.07
18	29435779	A	G	18	31855816	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.02220110842431E-5	0.0
18	29435779	A	T	18	31855816	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00189218658564399	0.05
18	29435780	A	C	18	31855817	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00269721460041867	0.142
18	29435780	A	G	18	31855817	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.41088354831836E-5	0.0
18	29435780	A	T	18	31855817	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.1044992064545E-4	0.118
18	29435781	A	C	18	31855818	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0177526353918162	0.42
18	29435781	A	G	18	31855818	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.03658416144141E-5	0.082
18	29435781	A	T	18	31855818	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.021116810610266	0.412
18	29435782	A	C	18	31855819	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.42811410018017E-4	0.104
18	29435782	A	G	18	31855819	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.56350251172291E-5	0.0
18	29435782	A	T	18	31855819	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.19426333208785E-4	0.104
18	29437495	A	C	18	31857532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.49765308304875E-4	0.002
18	29437495	A	G	18	31857532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.5210596949361E-4	0.002
18	29437495	A	T	18	31857532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.81077337794779E-4	0.0
18	29437496	T	A	18	31857533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.66441693737182E-5	0.002
18	29437496	T	C	18	31857533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.66025145691515E-5	0.002
18	29437496	T	G	18	31857533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.44559397910801E-5	0.004
18	29437497	A	C	18	31857534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.654118376318269	0.5
18	29437497	A	G	18	31857534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.655443148819636	0.528
18	29437497	A	T	18	31857534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.604501290056059	0.53
18	29437498	C	A	18	31857535	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999952986912173	0.912
18	29437498	C	G	18	31857535	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999970300987523	0.96
18	29437498	C	T	18	31857535	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999387223730887	0.788
18	29437499	T	A	18	31857536	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.229247750187177	0.446
18	29437499	T	C	18	31857536	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.319690029223526	0.458
18	29437499	T	G	18	31857536	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.326991864197968	0.518
18	29437500	A	C	18	31857537	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.67406271556563E-5	0.1
18	29437500	A	G	18	31857537	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.41126614611148E-5	0.0
18	29437500	A	T	18	31857537	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.51062086744909E-5	0.07
18	29437501	A	C	18	31857538	y	y	splicing	TRAPPC8(NM_014939:exon21:c.3188+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.3188+2T>G;ENST00000580104:exon22:c.2926+2T>G;ENST00000582539:exon21:c.3026+2T>G)	.	.	0.99994568797423	0.938
18	29437501	A	G	18	31857538	y	y	splicing	TRAPPC8(NM_014939:exon21:c.3188+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.3188+2T>C;ENST00000580104:exon22:c.2926+2T>C;ENST00000582539:exon21:c.3026+2T>C)	.	.	0.999408359588715	0.91
18	29437501	A	T	18	31857538	y	y	splicing	TRAPPC8(NM_014939:exon21:c.3188+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.3188+2T>A;ENST00000580104:exon22:c.2926+2T>A;ENST00000582539:exon21:c.3026+2T>A)	.	.	0.99994568797423	0.918
18	29437502	C	A	18	31857539	y	y	splicing	TRAPPC8(NM_014939:exon21:c.3188+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.3188+1G>T;ENST00000580104:exon22:c.2926+1G>T;ENST00000582539:exon21:c.3026+1G>T)	.	.	0.999986675681007	0.932
18	29437502	C	G	18	31857539	y	y	splicing	TRAPPC8(NM_014939:exon21:c.3188+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.3188+1G>C;ENST00000580104:exon22:c.2926+1G>C;ENST00000582539:exon21:c.3026+1G>C)	.	.	0.999986675681007	0.932
18	29437502	C	T	18	31857539	y	y	splicing	TRAPPC8(NM_014939:exon21:c.3188+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.3188+1G>A;ENST00000580104:exon22:c.2926+1G>A;ENST00000582539:exon21:c.3026+1G>A)	.	.	0.999986675681007	0.932
18	29437503	C	A	18	31857540	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.G3188T:p.R1063L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.G3026T:p.R1009L;ENSG00000153339:ENST00000283351:exon20:c.G3188T:p.R1063L;	0.999951628636004	0.972
18	29437503	C	G	18	31857540	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.G3188C:p.R1063P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.G3026C:p.R1009P;ENSG00000153339:ENST00000283351:exon20:c.G3188C:p.R1063P;	0.999972220548109	0.952
18	29437503	C	T	18	31857540	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.G3188A:p.R1063Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.G3026A:p.R1009Q;ENSG00000153339:ENST00000283351:exon20:c.G3188A:p.R1063Q;	0.999952416755692	0.986
18	29437504	G	A	18	31857541	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.C3187T:p.R1063W;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.C3025T:p.R1009W;ENSG00000153339:ENST00000283351:exon20:c.C3187T:p.R1063W;	4.34437230661914E-4	0.012
18	29437504	G	C	18	31857541	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.C3187G:p.R1063G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.C3025G:p.R1009G;ENSG00000153339:ENST00000283351:exon20:c.C3187G:p.R1063G;	0.00159276247636221	0.04
18	29437504	G	T	18	31857541	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon20:c.C3187A:p.R1063R;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.C3025A:p.R1009R;ENSG00000153339:ENST00000283351:exon20:c.C3187A:p.R1063R;	2.21942046018738E-4	0.152
18	29437505	T	A	18	31857542	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon20:c.A3186T:p.I1062I;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.A3024T:p.I1008I;ENSG00000153339:ENST00000283351:exon20:c.A3186T:p.I1062I;	0.0346996260872953	0.324
18	29437505	T	C	18	31857542	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.A3186G:p.I1062M;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.A3024G:p.I1008M;ENSG00000153339:ENST00000283351:exon20:c.A3186G:p.I1062M;	6.4393492328138E-4	0.044
18	29437505	T	G	18	31857542	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon20:c.A3186C:p.I1062I;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.A3024C:p.I1008I;ENSG00000153339:ENST00000283351:exon20:c.A3186C:p.I1062I;	7.5569740894867E-4	0.046
18	29437944	A	C	18	31857981	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.T2747G:p.V916G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.T2585G:p.V862G;ENSG00000153339:ENST00000283351:exon20:c.T2747G:p.V916G;	0.0153062236406777	0.152
18	29437944	A	G	18	31857981	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.T2747C:p.V916A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.T2585C:p.V862A;ENSG00000153339:ENST00000283351:exon20:c.T2747C:p.V916A;	0.0301199412931016	0.182
18	29437944	A	T	18	31857981	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.T2747A:p.V916E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.T2585A:p.V862E;ENSG00000153339:ENST00000283351:exon20:c.T2747A:p.V916E;	0.021206052507513	0.168
18	29437945	C	A	18	31857982	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.G2746T:p.V916L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.G2584T:p.V862L;ENSG00000153339:ENST00000283351:exon20:c.G2746T:p.V916L;	0.99805094803572	0.978
18	29437945	C	G	18	31857982	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.G2746C:p.V916L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.G2584C:p.V862L;ENSG00000153339:ENST00000283351:exon20:c.G2746C:p.V916L;	0.997210601063443	0.882
18	29437945	C	T	18	31857982	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.G2746A:p.V916M;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon20:c.G2584A:p.V862M;ENSG00000153339:ENST00000283351:exon20:c.G2746A:p.V916M;	0.957884720414828	0.704
18	29437946	C	A	18	31857983	y	y	splicing	TRAPPC8(NM_014939:exon21:c.2746-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.2746-1G>T;ENST00000582539:exon21:c.2584-1G>T)	.	.	0.999986675681007	0.958
18	29437946	C	G	18	31857983	y	y	splicing	TRAPPC8(NM_014939:exon21:c.2746-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.2746-1G>C;ENST00000582539:exon21:c.2584-1G>C)	.	.	0.999986675681007	0.958
18	29437946	C	T	18	31857983	y	y	splicing	TRAPPC8(NM_014939:exon21:c.2746-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.2746-1G>A;ENST00000582539:exon21:c.2584-1G>A)	.	.	0.999986675681007	0.958
18	29437947	T	A	18	31857984	y	y	splicing	TRAPPC8(NM_014939:exon21:c.2746-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.2746-2A>T;ENST00000582539:exon21:c.2584-2A>T)	.	.	0.999989917668626	0.946
18	29437947	T	C	18	31857984	y	y	splicing	TRAPPC8(NM_014939:exon21:c.2746-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.2746-2A>G;ENST00000582539:exon21:c.2584-2A>G)	.	.	0.999989917668626	0.946
18	29437947	T	G	18	31857984	y	y	splicing	TRAPPC8(NM_014939:exon21:c.2746-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon21:c.2746-2A>C;ENST00000582539:exon21:c.2584-2A>C)	.	.	0.999989917668626	0.946
18	29437948	G	A	18	31857985	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0926046634581064	0.118
18	29437948	G	C	18	31857985	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999927067579007	0.964
18	29437948	G	T	18	31857985	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.989496543188117	0.864
18	29437949	C	A	18	31857986	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00834754397005132	0.026
18	29437949	C	G	18	31857986	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00443610124169982	0.012
18	29437949	C	T	18	31857986	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0122464529701168	0.026
18	29437950	A	C	18	31857987	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.996547422159701	0.87
18	29437950	A	G	18	31857987	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0215722838459973	0.176
18	29437950	A	T	18	31857987	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998833418488416	0.912
18	29437951	T	A	18	31857988	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.86155533736119E-4	0.034
18	29437951	T	C	18	31857988	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.942893232366366	0.648
18	29437951	T	G	18	31857988	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00125078984312473	0.04
18	29437952	T	A	18	31857989	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.18753456088626E-5	0.002
18	29437952	T	C	18	31857989	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.26532358463657E-4	0.016
18	29437952	T	G	18	31857989	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.80223649272271E-5	0.002
18	29437953	G	A	18	31857990	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00175394277193005	0.018
18	29437953	G	C	18	31857990	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0404770025021852	0.312
18	29437953	G	T	18	31857990	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.122821525122561	0.314
18	29437954	G	A	18	31857991	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.928057919142256	0.66
18	29437954	G	C	18	31857991	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.933272918835052	0.658
18	29437954	G	T	18	31857991	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.955748048110637	0.672
18	29437955	A	C	18	31857992	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998068598557034	0.896
18	29437955	A	G	18	31857992	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0385150545125488	0.284
18	29437955	A	T	18	31857992	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997041143481801	0.864
18	29437956	G	A	18	31857993	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.912101853855663	0.566
18	29437956	G	C	18	31857993	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.953885864933355	0.646
18	29437956	G	T	18	31857993	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.974335526780143	0.67
18	29437957	G	A	18	31857994	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.928057919142256	0.592
18	29437957	G	C	18	31857994	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.938524196746493	0.618
18	29437957	G	T	18	31857994	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.956660192893324	0.648
18	29444582	T	A	18	31864619	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.49304041939147E-4	0.004
18	29444582	T	C	18	31864619	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.81856051653107E-4	0.008
18	29444582	T	G	18	31864619	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.49060679887682E-4	0.0
18	29444583	G	A	18	31864620	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0180759473663202	0.058
18	29444583	G	C	18	31864620	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0170554392271948	0.078
18	29444583	G	T	18	31864620	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00948584770182529	0.08
18	29444584	A	C	18	31864621	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0539880997881077	0.304
18	29444584	A	G	18	31864621	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0575006439416892	0.45
18	29444584	A	T	18	31864621	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0288402493537204	0.352
18	29444585	A	C	18	31864622	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.09773320180917E-4	0.022
18	29444585	A	G	18	31864622	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00158758773992546	0.038
18	29444585	A	T	18	31864622	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00136470161519121	0.01
18	29444586	A	C	18	31864623	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.04659378005125	0.27
18	29444586	A	G	18	31864623	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0723756101125568	0.324
18	29444586	A	T	18	31864623	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00127977138145532	0.074
18	29444587	T	A	18	31864624	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999731692038121	0.858
18	29444587	T	C	18	31864624	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999702657013288	0.942
18	29444587	T	G	18	31864624	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999818324641183	0.91
18	29444588	A	C	18	31864625	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2745+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2745+2T>G;ENST00000580104:exon21:c.2745+2T>G;ENST00000582539:exon20:c.2583+2T>G)	.	.	0.999988247793601	0.946
18	29444588	A	G	18	31864625	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2745+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2745+2T>C;ENST00000580104:exon21:c.2745+2T>C;ENST00000582539:exon20:c.2583+2T>C)	.	.	0.99452460207795	0.688
18	29444588	A	T	18	31864625	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2745+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2745+2T>A;ENST00000580104:exon21:c.2745+2T>A;ENST00000582539:exon20:c.2583+2T>A)	.	.	0.999988247793601	0.946
18	29444589	C	A	18	31864626	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2745+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2745+1G>T;ENST00000580104:exon21:c.2745+1G>T;ENST00000582539:exon20:c.2583+1G>T)	.	.	0.999989072007339	0.944
18	29444589	C	G	18	31864626	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2745+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2745+1G>C;ENST00000580104:exon21:c.2745+1G>C;ENST00000582539:exon20:c.2583+1G>C)	.	.	0.999989072007339	0.944
18	29444589	C	T	18	31864626	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2745+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2745+1G>A;ENST00000580104:exon21:c.2745+1G>A;ENST00000582539:exon20:c.2583+1G>A)	.	.	0.999989072007339	0.944
18	29444590	C	A	18	31864627	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.G2745T:p.E915D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.G2583T:p.E861D;ENSG00000153339:ENST00000580104:exon20:c.G2745T:p.E915D;ENSG00000153339:ENST00000283351:exon19:c.G2745T:p.E915D;	0.999993585120544	0.998
18	29444590	C	G	18	31864627	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.G2745C:p.E915D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.G2583C:p.E861D;ENSG00000153339:ENST00000580104:exon20:c.G2745C:p.E915D;ENSG00000153339:ENST00000283351:exon19:c.G2745C:p.E915D;	0.99999682738262	0.944
18	29444590	C	T	18	31864627	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon19:c.G2745A:p.E915E;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.G2583A:p.E861E;ENSG00000153339:ENST00000580104:exon20:c.G2745A:p.E915E;ENSG00000153339:ENST00000283351:exon19:c.G2745A:p.E915E;	0.999957449365725	1.0
18	29444591	T	A	18	31864628	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.A2744T:p.E915V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.A2582T:p.E861V;ENSG00000153339:ENST00000580104:exon20:c.A2744T:p.E915V;ENSG00000153339:ENST00000283351:exon19:c.A2744T:p.E915V;	0.999282617172582	0.992
18	29444591	T	C	18	31864628	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.A2744G:p.E915G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.A2582G:p.E861G;ENSG00000153339:ENST00000580104:exon20:c.A2744G:p.E915G;ENSG00000153339:ENST00000283351:exon19:c.A2744G:p.E915G;	0.999129805282114	0.99
18	29444591	T	G	18	31864628	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.A2744C:p.E915A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.A2582C:p.E861A;ENSG00000153339:ENST00000580104:exon20:c.A2744C:p.E915A;ENSG00000153339:ENST00000283351:exon19:c.A2744C:p.E915A;	0.999248042219605	0.994
18	29444592	C	A	18	31864629	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon19:c.G2743T:p.E915X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon19:c.G2581T:p.E861X;ENSG00000153339:ENST00000580104:exon20:c.G2743T:p.E915X;ENSG00000153339:ENST00000283351:exon19:c.G2743T:p.E915X;	0.997947444468954	0.756
18	29444592	C	G	18	31864629	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.G2743C:p.E915Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.G2581C:p.E861Q;ENSG00000153339:ENST00000580104:exon20:c.G2743C:p.E915Q;ENSG00000153339:ENST00000283351:exon19:c.G2743C:p.E915Q;	0.713111707453323	0.53
18	29444592	C	T	18	31864629	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.G2743A:p.E915K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.G2581A:p.E861K;ENSG00000153339:ENST00000580104:exon20:c.G2743A:p.E915K;ENSG00000153339:ENST00000283351:exon19:c.G2743A:p.E915K;	0.951786881544117	0.704
18	29444743	T	A	18	31864780	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon19:c.A2592T:p.G864G;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.A2430T:p.G810G;ENSG00000153339:ENST00000580104:exon20:c.A2592T:p.G864G;ENSG00000153339:ENST00000283351:exon19:c.A2592T:p.G864G;	1.65589156386984E-4	0.0
18	29444743	T	C	18	31864780	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon19:c.A2592G:p.G864G;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.A2430G:p.G810G;ENSG00000153339:ENST00000580104:exon20:c.A2592G:p.G864G;ENSG00000153339:ENST00000283351:exon19:c.A2592G:p.G864G;	3.06123293717553E-4	0.008
18	29444743	T	G	18	31864780	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon19:c.A2592C:p.G864G;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.A2430C:p.G810G;ENSG00000153339:ENST00000580104:exon20:c.A2592C:p.G864G;ENSG00000153339:ENST00000283351:exon19:c.A2592C:p.G864G;	6.38109428629222E-4	0.044
18	29444744	C	A	18	31864781	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.G2591T:p.G864V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.G2429T:p.G810V;ENSG00000153339:ENST00000580104:exon20:c.G2591T:p.G864V;ENSG00000153339:ENST00000283351:exon19:c.G2591T:p.G864V;	0.99935637332639	0.978
18	29444744	C	G	18	31864781	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.G2591C:p.G864A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.G2429C:p.G810A;ENSG00000153339:ENST00000580104:exon20:c.G2591C:p.G864A;ENSG00000153339:ENST00000283351:exon19:c.G2591C:p.G864A;	0.998777971840944	0.956
18	29444744	C	T	18	31864781	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon19:c.G2591A:p.G864E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon19:c.G2429A:p.G810E;ENSG00000153339:ENST00000580104:exon20:c.G2591A:p.G864E;ENSG00000153339:ENST00000283351:exon19:c.G2591A:p.G864E;	0.9969432849854	0.784
18	29444745	C	A	18	31864782	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2591-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2591-1G>T;ENST00000580104:exon21:c.2591-1G>T;ENST00000582539:exon20:c.2429-1G>T)	.	.	0.999989072007339	0.928
18	29444745	C	G	18	31864782	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2591-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2591-1G>C;ENST00000580104:exon21:c.2591-1G>C;ENST00000582539:exon20:c.2429-1G>C)	.	.	0.999989072007339	0.928
18	29444745	C	T	18	31864782	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2591-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2591-1G>A;ENST00000580104:exon21:c.2591-1G>A;ENST00000582539:exon20:c.2429-1G>A)	.	.	0.999989072007339	0.928
18	29444746	T	A	18	31864783	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2591-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2591-2A>T;ENST00000580104:exon21:c.2591-2A>T;ENST00000582539:exon20:c.2429-2A>T)	.	.	0.999988247793601	0.932
18	29444746	T	C	18	31864783	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2591-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2591-2A>G;ENST00000580104:exon21:c.2591-2A>G;ENST00000582539:exon20:c.2429-2A>G)	.	.	0.999988247793601	0.932
18	29444746	T	G	18	31864783	y	y	splicing	TRAPPC8(NM_014939:exon20:c.2591-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon20:c.2591-2A>C;ENST00000580104:exon21:c.2591-2A>C;ENST00000582539:exon20:c.2429-2A>C)	.	.	0.999988247793601	0.932
18	29444747	G	A	18	31864784	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00102679087716921	0.052
18	29444747	G	C	18	31864784	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.933602234976082	0.718
18	29444747	G	T	18	31864784	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.173458485893988	0.4
18	29444748	A	C	18	31864785	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.59670639649259E-4	0.002
18	29444748	A	G	18	31864785	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.02657009405259E-4	0.004
18	29444748	A	T	18	31864785	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00149540979315947	0.052
18	29444749	A	C	18	31864786	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.975558485574592	0.75
18	29444749	A	G	18	31864786	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0880935154059454	0.208
18	29444749	A	T	18	31864786	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.955044745777128	0.742
18	29444750	A	C	18	31864787	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999461707325244	0.936
18	29444750	A	G	18	31864787	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0083780313064405	0.096
18	29444750	A	T	18	31864787	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.679203188599971	0.652
18	29444751	T	A	18	31864788	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00190626488468832	0.004
18	29444751	T	C	18	31864788	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00245770690765737	0.006
18	29444751	T	G	18	31864788	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00154862953139813	0.006
18	29444752	A	C	18	31864789	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00935827041293144	0.12
18	29444752	A	G	18	31864789	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.82864288606056E-5	0.0
18	29444752	A	T	18	31864789	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00948254744693797	0.084
18	29444753	A	C	18	31864790	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.718293408764262	0.482
18	29444753	A	G	18	31864790	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00289726311358468	0.05
18	29444753	A	T	18	31864790	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.85596353531216	0.536
18	29444754	A	C	18	31864791	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.927946440674668	0.726
18	29444754	A	G	18	31864791	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00170738225093699	0.032
18	29444754	A	T	18	31864791	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.931954082350347	0.672
18	29444755	A	C	18	31864792	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.132198592495794	0.436
18	29444755	A	G	18	31864792	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.32210656472915E-4	0.23
18	29444755	A	T	18	31864792	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.395649674241343	0.438
18	29444756	A	C	18	31864793	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0113009744508003	0.37
18	29444756	A	G	18	31864793	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.42721270556867E-4	0.008
18	29444756	A	T	18	31864793	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.291637840255414	0.508
18	29446804	G	A	18	31866841	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.03071486690563E-4	0.002
18	29446804	G	C	18	31866841	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.27006054270974E-4	0.0
18	29446804	G	T	18	31866841	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.97799787070535E-4	0.004
18	29446805	C	A	18	31866842	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.78705751285465E-4	0.022
18	29446805	C	G	18	31866842	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.72921857239455E-4	0.01
18	29446805	C	T	18	31866842	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.72921857239455E-4	0.012
18	29446806	C	A	18	31866843	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.41775851705041E-4	0.022
18	29446806	C	G	18	31866843	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00235550799002385	0.126
18	29446806	C	T	18	31866843	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.33478666009818E-4	0.038
18	29446807	T	A	18	31866844	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0353380363292306	0.162
18	29446807	T	C	18	31866844	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0482862424611606	0.274
18	29446807	T	G	18	31866844	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0123181741206067	0.134
18	29446808	T	A	18	31866845	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.6030957702158	0.29
18	29446808	T	C	18	31866845	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.369876241740906	0.318
18	29446808	T	G	18	31866845	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.415485476931085	0.282
18	29446809	T	A	18	31866846	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999782697961167	0.92
18	29446809	T	C	18	31866846	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.976667392071493	0.816
18	29446809	T	G	18	31866846	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999849121597876	0.934
18	29446810	A	C	18	31866847	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2590+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2590+2T>G;ENST00000580104:exon20:c.2590+2T>G;ENST00000582539:exon19:c.2428+2T>G)	.	.	0.999992446697775	0.93
18	29446810	A	G	18	31866847	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2590+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2590+2T>C;ENST00000580104:exon20:c.2590+2T>C;ENST00000582539:exon19:c.2428+2T>C)	.	.	0.993808943985639	0.648
18	29446810	A	T	18	31866847	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2590+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2590+2T>A;ENST00000580104:exon20:c.2590+2T>A;ENST00000582539:exon19:c.2428+2T>A)	.	.	0.999992446697775	0.93
18	29446811	C	A	18	31866848	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2590+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2590+1G>T;ENST00000580104:exon20:c.2590+1G>T;ENST00000582539:exon19:c.2428+1G>T)	.	.	0.999988247793601	0.928
18	29446811	C	G	18	31866848	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2590+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2590+1G>C;ENST00000580104:exon20:c.2590+1G>C;ENST00000582539:exon19:c.2428+1G>C)	.	.	0.999988247793601	0.928
18	29446811	C	T	18	31866848	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2590+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2590+1G>A;ENST00000580104:exon20:c.2590+1G>A;ENST00000582539:exon19:c.2428+1G>A)	.	.	0.999988247793601	0.928
18	29446812	C	A	18	31866849	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon18:c.G2590T:p.G864X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon18:c.G2428T:p.G810X;ENSG00000153339:ENST00000580104:exon19:c.G2590T:p.G864X;ENSG00000153339:ENST00000283351:exon18:c.G2590T:p.G864X;	0.99998986901139	0.984
18	29446812	C	G	18	31866849	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.G2590C:p.G864R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.G2428C:p.G810R;ENSG00000153339:ENST00000580104:exon19:c.G2590C:p.G864R;ENSG00000153339:ENST00000283351:exon18:c.G2590C:p.G864R;	0.999993030188498	1.0
18	29446812	C	T	18	31866849	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.G2590A:p.G864R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.G2428A:p.G810R;ENSG00000153339:ENST00000580104:exon19:c.G2590A:p.G864R;ENSG00000153339:ENST00000283351:exon18:c.G2590A:p.G864R;	0.999971656247401	0.998
18	29446813	T	A	18	31866850	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon18:c.A2589T:p.T863T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.A2427T:p.T809T;ENSG00000153339:ENST00000580104:exon19:c.A2589T:p.T863T;ENSG00000153339:ENST00000283351:exon18:c.A2589T:p.T863T;	0.984185914013649	0.728
18	29446813	T	C	18	31866850	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon18:c.A2589G:p.T863T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.A2427G:p.T809T;ENSG00000153339:ENST00000580104:exon19:c.A2589G:p.T863T;ENSG00000153339:ENST00000283351:exon18:c.A2589G:p.T863T;	0.873796421406105	0.642
18	29446813	T	G	18	31866850	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon18:c.A2589C:p.T863T;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.A2427C:p.T809T;ENSG00000153339:ENST00000580104:exon19:c.A2589C:p.T863T;ENSG00000153339:ENST00000283351:exon18:c.A2589C:p.T863T;	0.911798831877681	0.594
18	29446814	G	A	18	31866851	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.C2588T:p.T863I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.C2426T:p.T809I;ENSG00000153339:ENST00000580104:exon19:c.C2588T:p.T863I;ENSG00000153339:ENST00000283351:exon18:c.C2588T:p.T863I;	0.913959373712942	0.71
18	29446814	G	C	18	31866851	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.C2588G:p.T863R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.C2426G:p.T809R;ENSG00000153339:ENST00000580104:exon19:c.C2588G:p.T863R;ENSG00000153339:ENST00000283351:exon18:c.C2588G:p.T863R;	0.0124788673989705	0.166
18	29446814	G	T	18	31866851	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.C2588A:p.T863K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.C2426A:p.T809K;ENSG00000153339:ENST00000580104:exon19:c.C2588A:p.T863K;ENSG00000153339:ENST00000283351:exon18:c.C2588A:p.T863K;	0.00684290687346384	0.142
18	29446937	G	A	18	31866974	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.C2465T:p.A822V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.C2303T:p.A768V;ENSG00000153339:ENST00000580104:exon19:c.C2465T:p.A822V;ENSG00000153339:ENST00000283351:exon18:c.C2465T:p.A822V;	0.575163848363085	0.52
18	29446937	G	C	18	31866974	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.C2465G:p.A822G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.C2303G:p.A768G;ENSG00000153339:ENST00000580104:exon19:c.C2465G:p.A822G;ENSG00000153339:ENST00000283351:exon18:c.C2465G:p.A822G;	0.30338839005719	0.362
18	29446937	G	T	18	31866974	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.C2465A:p.A822E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.C2303A:p.A768E;ENSG00000153339:ENST00000580104:exon19:c.C2465A:p.A822E;ENSG00000153339:ENST00000283351:exon18:c.C2465A:p.A822E;	0.846776699947995	0.398
18	29446938	C	A	18	31866975	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.G2464T:p.A822S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.G2302T:p.A768S;ENSG00000153339:ENST00000580104:exon19:c.G2464T:p.A822S;ENSG00000153339:ENST00000283351:exon18:c.G2464T:p.A822S;	0.99823974859271	0.926
18	29446938	C	G	18	31866975	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.G2464C:p.A822P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.G2302C:p.A768P;ENSG00000153339:ENST00000580104:exon19:c.G2464C:p.A822P;ENSG00000153339:ENST00000283351:exon18:c.G2464C:p.A822P;	0.995364258926884	0.914
18	29446938	C	T	18	31866975	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon18:c.G2464A:p.A822T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon18:c.G2302A:p.A768T;ENSG00000153339:ENST00000580104:exon19:c.G2464A:p.A822T;ENSG00000153339:ENST00000283351:exon18:c.G2464A:p.A822T;	0.999405815499777	0.83
18	29446939	C	A	18	31866976	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2464-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2464-1G>T;ENST00000580104:exon20:c.2464-1G>T;ENST00000582539:exon19:c.2302-1G>T)	.	.	0.999986741007567	0.94
18	29446939	C	G	18	31866976	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2464-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2464-1G>C;ENST00000580104:exon20:c.2464-1G>C;ENST00000582539:exon19:c.2302-1G>C)	.	.	0.999986741007567	0.94
18	29446939	C	T	18	31866976	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2464-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2464-1G>A;ENST00000580104:exon20:c.2464-1G>A;ENST00000582539:exon19:c.2302-1G>A)	.	.	0.999986741007567	0.94
18	29446940	T	A	18	31866977	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2464-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2464-2A>T;ENST00000580104:exon20:c.2464-2A>T;ENST00000582539:exon19:c.2302-2A>T)	.	.	0.999992689121502	0.938
18	29446940	T	C	18	31866977	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2464-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2464-2A>G;ENST00000580104:exon20:c.2464-2A>G;ENST00000582539:exon19:c.2302-2A>G)	.	.	0.999992689121502	0.938
18	29446940	T	G	18	31866977	y	y	splicing	TRAPPC8(NM_014939:exon19:c.2464-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon19:c.2464-2A>C;ENST00000580104:exon20:c.2464-2A>C;ENST00000582539:exon19:c.2302-2A>C)	.	.	0.999992689121502	0.938
18	29446941	G	A	18	31866978	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0180705878704296	0.282
18	29446941	G	C	18	31866978	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999919179265387	0.968
18	29446941	G	T	18	31866978	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.973480818636823	0.84
18	29446942	T	A	18	31866979	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0146423314539906	0.078
18	29446942	T	C	18	31866979	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.94433599201015E-4	0.066
18	29446942	T	G	18	31866979	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.8067517811813E-4	0.04
18	29446943	G	A	18	31866980	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00125311081107475	0.08
18	29446943	G	C	18	31866980	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.42106236882249	0.43
18	29446943	G	T	18	31866980	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.363678151754633	0.348
18	29446944	G	A	18	31866981	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00294303131923062	0.174
18	29446944	G	C	18	31866981	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.98843295025621	0.724
18	29446944	G	T	18	31866981	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.988442223479471	0.71
18	29446945	A	C	18	31866982	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.989976338028207	0.848
18	29446945	A	G	18	31866982	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.75501110251074E-4	0.17
18	29446945	A	T	18	31866982	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.990185381787918	0.884
18	29446946	G	A	18	31866983	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.79515575550669E-4	0.028
18	29446946	G	C	18	31866983	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0224001806976977	0.148
18	29446946	G	T	18	31866983	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00784724357846323	0.126
18	29446947	A	C	18	31866984	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999981808213657	0.972
18	29446947	A	G	18	31866984	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.432215356517203	0.454
18	29446947	A	T	18	31866984	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99884701205232	0.91
18	29446948	T	A	18	31866985	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.35526602358726E-4	0.308
18	29446948	T	C	18	31866985	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.54772135162459E-4	0.13
18	29446948	T	G	18	31866985	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.165396754668E-4	0.21
18	29446949	A	C	18	31866986	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999982209851479	0.97
18	29446949	A	G	18	31866986	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.990079941534798	0.688
18	29446949	A	T	18	31866986	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999569870514685	0.928
18	29446950	T	A	18	31866987	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0195911181630484	0.43
18	29446950	T	C	18	31866987	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998722149380008	0.948
18	29446950	T	G	18	31866987	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0169421540585155	0.438
18	29447357	A	C	18	31867394	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00352580434371716	0.068
18	29447357	A	G	18	31867394	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00328654404913969	0.0
18	29447357	A	T	18	31867394	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00110027939894295	0.006
18	29447358	T	A	18	31867395	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.22066223646586E-4	0.016
18	29447358	T	C	18	31867395	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.09822375506518E-4	0.016
18	29447358	T	G	18	31867395	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.43392659734985E-4	0.0
18	29447359	A	C	18	31867396	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.160665413741057	0.442
18	29447359	A	G	18	31867396	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.971218743067922	0.694
18	29447359	A	T	18	31867396	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.891043078830088	0.506
18	29447360	A	C	18	31867397	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.14731398429751E-4	0.284
18	29447360	A	G	18	31867397	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.75700189563664E-4	0.008
18	29447360	A	T	18	31867397	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.1375969883653E-4	0.06
18	29447361	T	A	18	31867398	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997292265010755	0.91
18	29447361	T	C	18	31867398	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999492517002498	0.974
18	29447361	T	G	18	31867398	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998483282642143	0.88
18	29447362	T	A	18	31867399	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999907259297092	0.974
18	29447362	T	C	18	31867399	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999738071323475	0.93
18	29447362	T	G	18	31867399	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999913473941877	0.974
18	29447363	A	C	18	31867400	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2463+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2463+2T>G;ENST00000580104:exon19:c.2463+2T>G;ENST00000582539:exon18:c.2301+2T>G)	.	.	0.999988247793601	0.928
18	29447363	A	G	18	31867400	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2463+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2463+2T>C;ENST00000580104:exon19:c.2463+2T>C;ENST00000582539:exon18:c.2301+2T>C)	.	.	0.994669226766359	0.626
18	29447363	A	T	18	31867400	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2463+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2463+2T>A;ENST00000580104:exon19:c.2463+2T>A;ENST00000582539:exon18:c.2301+2T>A)	.	.	0.999988247793601	0.928
18	29447364	C	A	18	31867401	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2463+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2463+1G>T;ENST00000580104:exon19:c.2463+1G>T;ENST00000582539:exon18:c.2301+1G>T)	.	.	0.999986675681007	0.932
18	29447364	C	G	18	31867401	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2463+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2463+1G>C;ENST00000580104:exon19:c.2463+1G>C;ENST00000582539:exon18:c.2301+1G>C)	.	.	0.999986675681007	0.932
18	29447364	C	T	18	31867401	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2463+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2463+1G>A;ENST00000580104:exon19:c.2463+1G>A;ENST00000582539:exon18:c.2301+1G>A)	.	.	0.999986675681007	0.932
18	29447365	C	A	18	31867402	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon17:c.G2463T:p.V821V;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2301T:p.V767V;ENSG00000153339:ENST00000580104:exon18:c.G2463T:p.V821V;ENSG00000153339:ENST00000283351:exon17:c.G2463T:p.V821V;	0.999972295817813	0.988
18	29447365	C	G	18	31867402	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon17:c.G2463C:p.V821V;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2301C:p.V767V;ENSG00000153339:ENST00000580104:exon18:c.G2463C:p.V821V;ENSG00000153339:ENST00000283351:exon17:c.G2463C:p.V821V;	0.999993745877712	0.984
18	29447365	C	T	18	31867402	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon17:c.G2463A:p.V821V;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2301A:p.V767V;ENSG00000153339:ENST00000580104:exon18:c.G2463A:p.V821V;ENSG00000153339:ENST00000283351:exon17:c.G2463A:p.V821V;	0.999987475640137	0.996
18	29447366	A	C	18	31867403	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.T2462G:p.V821G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.T2300G:p.V767G;ENSG00000153339:ENST00000580104:exon18:c.T2462G:p.V821G;ENSG00000153339:ENST00000283351:exon17:c.T2462G:p.V821G;	0.0479177856900503	0.222
18	29447366	A	G	18	31867403	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.T2462C:p.V821A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.T2300C:p.V767A;ENSG00000153339:ENST00000580104:exon18:c.T2462C:p.V821A;ENSG00000153339:ENST00000283351:exon17:c.T2462C:p.V821A;	0.127701819777072	0.304
18	29447366	A	T	18	31867403	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.T2462A:p.V821E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.T2300A:p.V767E;ENSG00000153339:ENST00000580104:exon18:c.T2462A:p.V821E;ENSG00000153339:ENST00000283351:exon17:c.T2462A:p.V821E;	0.0119955161398719	0.15
18	29447367	C	A	18	31867404	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.G2461T:p.V821L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2299T:p.V767L;ENSG00000153339:ENST00000580104:exon18:c.G2461T:p.V821L;ENSG00000153339:ENST00000283351:exon17:c.G2461T:p.V821L;	0.013266235128278	0.126
18	29447367	C	G	18	31867404	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.G2461C:p.V821L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2299C:p.V767L;ENSG00000153339:ENST00000580104:exon18:c.G2461C:p.V821L;ENSG00000153339:ENST00000283351:exon17:c.G2461C:p.V821L;	0.00224317162683769	0.022
18	29447367	C	T	18	31867404	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.G2461A:p.V821M;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2299A:p.V767M;ENSG00000153339:ENST00000580104:exon18:c.G2461A:p.V821M;ENSG00000153339:ENST00000283351:exon17:c.G2461A:p.V821M;	0.00190527084783273	0.014
18	29447438	A	C	18	31867475	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.T2390G:p.V797G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.T2228G:p.V743G;ENSG00000153339:ENST00000580104:exon18:c.T2390G:p.V797G;ENSG00000153339:ENST00000283351:exon17:c.T2390G:p.V797G;	0.00491795229391287	0.086
18	29447438	A	G	18	31867475	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.T2390C:p.V797A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.T2228C:p.V743A;ENSG00000153339:ENST00000580104:exon18:c.T2390C:p.V797A;ENSG00000153339:ENST00000283351:exon17:c.T2390C:p.V797A;	0.033697815704543	0.112
18	29447438	A	T	18	31867475	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.T2390A:p.V797D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.T2228A:p.V743D;ENSG00000153339:ENST00000580104:exon18:c.T2390A:p.V797D;ENSG00000153339:ENST00000283351:exon17:c.T2390A:p.V797D;	0.00672691536078704	0.126
18	29447439	C	A	18	31867476	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.G2389T:p.V797F;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2227T:p.V743F;ENSG00000153339:ENST00000580104:exon18:c.G2389T:p.V797F;ENSG00000153339:ENST00000283351:exon17:c.G2389T:p.V797F;	0.826147791515427	0.666
18	29447439	C	G	18	31867476	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.G2389C:p.V797L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2227C:p.V743L;ENSG00000153339:ENST00000580104:exon18:c.G2389C:p.V797L;ENSG00000153339:ENST00000283351:exon17:c.G2389C:p.V797L;	0.292711370063036	0.566
18	29447439	C	T	18	31867476	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon17:c.G2389A:p.V797I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon17:c.G2227A:p.V743I;ENSG00000153339:ENST00000580104:exon18:c.G2389A:p.V797I;ENSG00000153339:ENST00000283351:exon17:c.G2389A:p.V797I;	0.00774888744477824	0.178
18	29447440	C	A	18	31867477	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2389-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2389-1G>T;ENST00000580104:exon19:c.2389-1G>T;ENST00000582539:exon18:c.2227-1G>T)	.	.	0.999986675681007	0.932
18	29447440	C	G	18	31867477	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2389-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2389-1G>C;ENST00000580104:exon19:c.2389-1G>C;ENST00000582539:exon18:c.2227-1G>C)	.	.	0.999986675681007	0.932
18	29447440	C	T	18	31867477	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2389-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2389-1G>A;ENST00000580104:exon19:c.2389-1G>A;ENST00000582539:exon18:c.2227-1G>A)	.	.	0.999986675681007	0.932
18	29447441	T	A	18	31867478	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2389-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2389-2A>T;ENST00000580104:exon19:c.2389-2A>T;ENST00000582539:exon18:c.2227-2A>T)	.	.	0.999988247793601	0.928
18	29447441	T	C	18	31867478	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2389-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2389-2A>G;ENST00000580104:exon19:c.2389-2A>G;ENST00000582539:exon18:c.2227-2A>G)	.	.	0.999988247793601	0.928
18	29447441	T	G	18	31867478	y	y	splicing	TRAPPC8(NM_014939:exon18:c.2389-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon18:c.2389-2A>C;ENST00000580104:exon19:c.2389-2A>C;ENST00000582539:exon18:c.2227-2A>C)	.	.	0.999988247793601	0.928
18	29447442	A	C	18	31867479	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.77174286976532	0.634
18	29447442	A	G	18	31867479	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.18986451944106E-4	0.008
18	29447442	A	T	18	31867479	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00125215932473366	0.188
18	29447443	A	C	18	31867480	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00573461191965597	0.126
18	29447443	A	G	18	31867480	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.75371006586011E-4	0.062
18	29447443	A	T	18	31867480	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.08334415980128E-4	0.04
18	29447444	A	C	18	31867481	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.970758831708766	0.71
18	29447444	A	G	18	31867481	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00866369956213245	0.042
18	29447444	A	T	18	31867481	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.977896863274205	0.774
18	29447445	A	C	18	31867482	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.172063093806867	0.48
18	29447445	A	G	18	31867482	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.61486751288689E-4	0.012
18	29447445	A	T	18	31867482	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.262676304879398	0.464
18	29447446	A	C	18	31867483	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.685045584002679	0.51
18	29447446	A	G	18	31867483	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00169966588498404	0.034
18	29447446	A	T	18	31867483	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.912749574022805	0.532
18	29447447	A	C	18	31867484	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999757833881941	0.962
18	29447447	A	G	18	31867484	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.29630041025338E-4	0.008
18	29447447	A	T	18	31867484	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.486860115420306	0.342
18	29447448	T	A	18	31867485	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.10050129858844E-4	0.132
18	29447448	T	C	18	31867485	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.50728721205912E-4	0.096
18	29447448	T	G	18	31867485	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.03542381013376E-4	0.098
18	29447449	A	C	18	31867486	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.940483342550377	0.692
18	29447449	A	G	18	31867486	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00519333639166041	0.154
18	29447449	A	T	18	31867486	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.962371646751914	0.692
18	29447450	A	C	18	31867487	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999312752089964	0.886
18	29447450	A	G	18	31867487	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.966710370046146	0.566
18	29447450	A	T	18	31867487	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999576028267902	0.948
18	29447451	A	C	18	31867488	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999898563305396	0.912
18	29447451	A	G	18	31867488	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.50714807842466E-4	0.018
18	29447451	A	T	18	31867488	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0891284445155983	0.406
18	29450327	T	A	18	31870364	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0288306959934565	0.124
18	29450327	T	C	18	31870364	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00484772381032865	0.048
18	29450327	T	G	18	31870364	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0288306959934565	0.122
18	29450328	A	C	18	31870365	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.82254846753964E-4	0.0
18	29450328	A	G	18	31870365	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.15534999524784E-4	0.004
18	29450328	A	T	18	31870365	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.27688465758201E-4	0.0
18	29450329	A	C	18	31870366	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998221806393619	0.964
18	29450329	A	G	18	31870366	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.994674323193179	0.882
18	29450329	A	T	18	31870366	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99793761509729	0.808
18	29450330	C	A	18	31870367	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999976008337081	0.988
18	29450330	C	G	18	31870367	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999976008337081	0.99
18	29450330	C	T	18	31870367	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999976008337081	1.0
18	29450331	T	A	18	31870368	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997325025513399	0.908
18	29450331	T	C	18	31870368	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997325025513399	0.936
18	29450331	T	G	18	31870368	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997264176619314	0.958
18	29450332	T	A	18	31870369	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999659333504073	0.972
18	29450332	T	C	18	31870369	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.996013943120043	0.612
18	29450332	T	G	18	31870369	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999742273536858	0.956
18	29450333	A	C	18	31870370	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2388+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2388+2T>G;ENST00000580104:exon18:c.2388+2T>G;ENST00000582539:exon17:c.2226+2T>G)	.	.	0.999988247793601	0.928
18	29450333	A	G	18	31870370	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2388+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2388+2T>C;ENST00000580104:exon18:c.2388+2T>C;ENST00000582539:exon17:c.2226+2T>C)	.	.	0.994731650058242	0.696
18	29450333	A	T	18	31870370	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2388+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2388+2T>A;ENST00000580104:exon18:c.2388+2T>A;ENST00000582539:exon17:c.2226+2T>A)	.	.	0.999988247793601	0.928
18	29450334	C	A	18	31870371	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2388+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2388+1G>T;ENST00000580104:exon18:c.2388+1G>T;ENST00000582539:exon17:c.2226+1G>T)	.	.	0.999990361384395	0.938
18	29450334	C	G	18	31870371	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2388+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2388+1G>C;ENST00000580104:exon18:c.2388+1G>C;ENST00000582539:exon17:c.2226+1G>C)	.	.	0.999990361384395	0.938
18	29450334	C	T	18	31870371	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2388+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2388+1G>A;ENST00000580104:exon18:c.2388+1G>A;ENST00000582539:exon17:c.2226+1G>A)	.	.	0.999990361384395	0.938
18	29450335	T	A	18	31870372	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon16:c.A2388T:p.L796L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2226T:p.L742L;ENSG00000153339:ENST00000580104:exon17:c.A2388T:p.L796L;ENSG00000153339:ENST00000283351:exon16:c.A2388T:p.L796L;	0.511997596367016	0.508
18	29450335	T	C	18	31870372	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon16:c.A2388G:p.L796L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2226G:p.L742L;ENSG00000153339:ENST00000580104:exon17:c.A2388G:p.L796L;ENSG00000153339:ENST00000283351:exon16:c.A2388G:p.L796L;	0.0159478110202683	0.178
18	29450335	T	G	18	31870372	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon16:c.A2388C:p.L796L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2226C:p.L742L;ENSG00000153339:ENST00000580104:exon17:c.A2388C:p.L796L;ENSG00000153339:ENST00000283351:exon16:c.A2388C:p.L796L;	0.219714970791434	0.534
18	29450336	A	C	18	31870373	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.T2387G:p.L796R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.T2225G:p.L742R;ENSG00000153339:ENST00000580104:exon17:c.T2387G:p.L796R;ENSG00000153339:ENST00000283351:exon16:c.T2387G:p.L796R;	0.0116362257404309	0.188
18	29450336	A	G	18	31870373	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.T2387C:p.L796P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.T2225C:p.L742P;ENSG00000153339:ENST00000580104:exon17:c.T2387C:p.L796P;ENSG00000153339:ENST00000283351:exon16:c.T2387C:p.L796P;	0.00630248618633637	0.05
18	29450336	A	T	18	31870373	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.T2387A:p.L796Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.T2225A:p.L742Q;ENSG00000153339:ENST00000580104:exon17:c.T2387A:p.L796Q;ENSG00000153339:ENST00000283351:exon16:c.T2387A:p.L796Q;	5.65266081776199E-4	0.164
18	29450337	G	A	18	31870374	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon16:c.C2386T:p.L796L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.C2224T:p.L742L;ENSG00000153339:ENST00000580104:exon17:c.C2386T:p.L796L;ENSG00000153339:ENST00000283351:exon16:c.C2386T:p.L796L;	0.725267395302101	0.518
18	29450337	G	C	18	31870374	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.C2386G:p.L796V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.C2224G:p.L742V;ENSG00000153339:ENST00000580104:exon17:c.C2386G:p.L796V;ENSG00000153339:ENST00000283351:exon16:c.C2386G:p.L796V;	0.0374977040111525	0.11
18	29450337	G	T	18	31870374	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.C2386A:p.L796I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.C2224A:p.L742I;ENSG00000153339:ENST00000580104:exon17:c.C2386A:p.L796I;ENSG00000153339:ENST00000283351:exon16:c.C2386A:p.L796I;	0.013461246003669	0.148
18	29450464	T	A	18	31870501	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.A2259T:p.E753D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2097T:p.E699D;ENSG00000153339:ENST00000580104:exon17:c.A2259T:p.E753D;ENSG00000153339:ENST00000283351:exon16:c.A2259T:p.E753D;	3.87293534147837E-5	0.0
18	29450464	T	C	18	31870501	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon16:c.A2259G:p.E753E;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2097G:p.E699E;ENSG00000153339:ENST00000580104:exon17:c.A2259G:p.E753E;ENSG00000153339:ENST00000283351:exon16:c.A2259G:p.E753E;	1.17768815338765E-4	0.026
18	29450464	T	G	18	31870501	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.A2259C:p.E753D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2097C:p.E699D;ENSG00000153339:ENST00000580104:exon17:c.A2259C:p.E753D;ENSG00000153339:ENST00000283351:exon16:c.A2259C:p.E753D;	4.75191554752118E-5	0.006
18	29450465	T	A	18	31870502	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.A2258T:p.E753V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2096T:p.E699V;ENSG00000153339:ENST00000580104:exon17:c.A2258T:p.E753V;ENSG00000153339:ENST00000283351:exon16:c.A2258T:p.E753V;	0.073330370537298	0.388
18	29450465	T	C	18	31870502	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.A2258G:p.E753G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2096G:p.E699G;ENSG00000153339:ENST00000580104:exon17:c.A2258G:p.E753G;ENSG00000153339:ENST00000283351:exon16:c.A2258G:p.E753G;	0.0409461476674841	0.156
18	29450465	T	G	18	31870502	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon16:c.A2258C:p.E753A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon16:c.A2096C:p.E699A;ENSG00000153339:ENST00000580104:exon17:c.A2258C:p.E753A;ENSG00000153339:ENST00000283351:exon16:c.A2258C:p.E753A;	0.0325777414631281	0.28
18	29450466	C	A	18	31870503	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2258-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2258-1G>T;ENST00000580104:exon18:c.2258-1G>T;ENST00000582539:exon17:c.2096-1G>T)	.	.	0.999989072007339	0.932
18	29450466	C	G	18	31870503	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2258-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2258-1G>C;ENST00000580104:exon18:c.2258-1G>C;ENST00000582539:exon17:c.2096-1G>C)	.	.	0.999989072007339	0.932
18	29450466	C	T	18	31870503	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2258-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2258-1G>A;ENST00000580104:exon18:c.2258-1G>A;ENST00000582539:exon17:c.2096-1G>A)	.	.	0.999989072007339	0.932
18	29450467	T	A	18	31870504	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2258-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2258-2A>T;ENST00000580104:exon18:c.2258-2A>T;ENST00000582539:exon17:c.2096-2A>T)	.	.	0.999988247793601	0.93
18	29450467	T	C	18	31870504	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2258-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2258-2A>G;ENST00000580104:exon18:c.2258-2A>G;ENST00000582539:exon17:c.2096-2A>G)	.	.	0.999988247793601	0.93
18	29450467	T	G	18	31870504	y	y	splicing	TRAPPC8(NM_014939:exon17:c.2258-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon17:c.2258-2A>C;ENST00000580104:exon18:c.2258-2A>C;ENST00000582539:exon17:c.2096-2A>C)	.	.	0.999988247793601	0.93
18	29450468	A	C	18	31870505	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.982689695988602	0.644
18	29450468	A	G	18	31870505	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.24171200574771E-5	0.004
18	29450468	A	T	18	31870505	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0266186698467773	0.208
18	29450469	T	A	18	31870506	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.18137834126961E-5	0.01
18	29450469	T	C	18	31870506	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995957660248885	0.966
18	29450469	T	G	18	31870506	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.8795151080991E-5	0.008
18	29450470	T	A	18	31870507	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.9303380304941E-5	0.008
18	29450470	T	C	18	31870507	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.44322585463025E-4	0.196
18	29450470	T	G	18	31870507	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.37190081623223E-5	0.018
18	29450471	A	C	18	31870508	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.58941127953524E-4	0.118
18	29450471	A	G	18	31870508	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.45855991568189E-5	0.008
18	29450471	A	T	18	31870508	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.19986517678925E-4	0.04
18	29450472	A	C	18	31870509	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0130337790942481	0.18
18	29450472	A	G	18	31870509	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.65782289451708E-4	0.038
18	29450472	A	T	18	31870509	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0195341148259896	0.222
18	29450473	A	C	18	31870510	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00666099344479248	0.176
18	29450473	A	G	18	31870510	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.5005657718512E-4	0.004
18	29450473	A	T	18	31870510	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00213637445170479	0.144
18	29450474	A	C	18	31870511	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00836796890034116	0.298
18	29450474	A	G	18	31870511	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00109635855187598	0.07
18	29450474	A	T	18	31870511	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0228118463236007	0.296
18	29450475	A	C	18	31870512	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.94318953461941E-4	0.122
18	29450475	A	G	18	31870512	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.14853378354527E-5	0.004
18	29450475	A	T	18	31870512	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00116597541818621	0.11
18	29450476	A	C	18	31870513	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0045774310072533	0.27
18	29450476	A	G	18	31870513	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00349891086882539	0.146
18	29450476	A	T	18	31870513	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0174317424509137	0.34
18	29450477	A	C	18	31870514	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00146612943869267	0.228
18	29450477	A	G	18	31870514	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.82070388477601E-4	0.008
18	29450477	A	T	18	31870514	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.40264314566976E-4	0.25
18	29450881	T	A	18	31870918	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.71662266374827E-5	0.0
18	29450881	T	C	18	31870918	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.78389654127837E-5	0.008
18	29450881	T	G	18	31870918	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.78389654127837E-5	0.004
18	29450882	A	C	18	31870919	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.75656357047736E-5	0.006
18	29450882	A	G	18	31870919	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.90026381504258E-5	0.006
18	29450882	A	T	18	31870919	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.33182191864777E-4	0.004
18	29450883	T	A	18	31870920	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.76097543665108E-5	0.004
18	29450883	T	C	18	31870920	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.71077791239478E-5	0.004
18	29450883	T	G	18	31870920	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.6169099295443E-5	0.012
18	29450884	A	C	18	31870921	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.16499401669896E-5	0.006
18	29450884	A	G	18	31870921	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.61504335970937E-6	0.008
18	29450884	A	T	18	31870921	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.12687749737245E-6	0.012
18	29450885	T	A	18	31870922	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997382864022975	0.846
18	29450885	T	C	18	31870922	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997382864022975	0.868
18	29450885	T	G	18	31870922	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.927743970370795	0.68
18	29450886	C	A	18	31870923	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.255988691398345	0.542
18	29450886	C	G	18	31870923	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.157280639433452	0.508
18	29450886	C	T	18	31870923	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.80177672731375E-5	0.05
18	29450887	A	C	18	31870924	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2257+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2257+2T>G;ENST00000580104:exon17:c.2257+2T>G;ENST00000582539:exon16:c.2095+2T>G)	.	.	0.999959626360342	0.898
18	29450887	A	G	18	31870924	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2257+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2257+2T>C;ENST00000580104:exon17:c.2257+2T>C;ENST00000582539:exon16:c.2095+2T>C)	.	.	0.999696668485612	0.83
18	29450887	A	T	18	31870924	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2257+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2257+2T>A;ENST00000580104:exon17:c.2257+2T>A;ENST00000582539:exon16:c.2095+2T>A)	.	.	0.999979394981131	0.904
18	29450888	C	A	18	31870925	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2257+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2257+1G>T;ENST00000580104:exon17:c.2257+1G>T;ENST00000582539:exon16:c.2095+1G>T)	.	.	0.999980303772886	0.902
18	29450888	C	G	18	31870925	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2257+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2257+1G>C;ENST00000580104:exon17:c.2257+1G>C;ENST00000582539:exon16:c.2095+1G>C)	.	.	0.999980303772886	0.902
18	29450888	C	T	18	31870925	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2257+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2257+1G>A;ENST00000580104:exon17:c.2257+1G>A;ENST00000582539:exon16:c.2095+1G>A)	.	.	0.999980303772886	0.902
18	29450889	C	A	18	31870926	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon15:c.G2257T:p.E753X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon15:c.G2095T:p.E699X;ENSG00000153339:ENST00000580104:exon16:c.G2257T:p.E753X;ENSG00000153339:ENST00000283351:exon15:c.G2257T:p.E753X;	0.999976054038748	0.894
18	29450889	C	G	18	31870926	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.G2257C:p.E753Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.G2095C:p.E699Q;ENSG00000153339:ENST00000580104:exon16:c.G2257C:p.E753Q;ENSG00000153339:ENST00000283351:exon15:c.G2257C:p.E753Q;	0.999986025845003	0.992
18	29450889	C	T	18	31870926	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.G2257A:p.E753K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.G2095A:p.E699K;ENSG00000153339:ENST00000580104:exon16:c.G2257A:p.E753K;ENSG00000153339:ENST00000283351:exon15:c.G2257A:p.E753K;	0.999982756828998	0.978
18	29450890	T	A	18	31870927	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.A2256T:p.E752D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.A2094T:p.E698D;ENSG00000153339:ENST00000580104:exon16:c.A2256T:p.E752D;ENSG00000153339:ENST00000283351:exon15:c.A2256T:p.E752D;	0.999864611140713	0.974
18	29450890	T	C	18	31870927	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon15:c.A2256G:p.E752E;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.A2094G:p.E698E;ENSG00000153339:ENST00000580104:exon16:c.A2256G:p.E752E;ENSG00000153339:ENST00000283351:exon15:c.A2256G:p.E752E;	0.999492061149178	0.822
18	29450890	T	G	18	31870927	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.A2256C:p.E752D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.A2094C:p.E698D;ENSG00000153339:ENST00000580104:exon16:c.A2256C:p.E752D;ENSG00000153339:ENST00000283351:exon15:c.A2256C:p.E752D;	0.998546168513407	0.96
18	29450891	T	A	18	31870928	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.A2255T:p.E752V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.A2093T:p.E698V;ENSG00000153339:ENST00000580104:exon16:c.A2255T:p.E752V;ENSG00000153339:ENST00000283351:exon15:c.A2255T:p.E752V;	0.43730177140359	0.51
18	29450891	T	C	18	31870928	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.A2255G:p.E752G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.A2093G:p.E698G;ENSG00000153339:ENST00000580104:exon16:c.A2255G:p.E752G;ENSG00000153339:ENST00000283351:exon15:c.A2255G:p.E752G;	0.00418687039578315	0.068
18	29450891	T	G	18	31870928	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.A2255C:p.E752A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.A2093C:p.E698A;ENSG00000153339:ENST00000580104:exon16:c.A2255C:p.E752A;ENSG00000153339:ENST00000283351:exon15:c.A2255C:p.E752A;	4.6437139402086E-5	0.004
18	29451082	A	C	18	31871119	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon15:c.T2064G:p.G688G;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.T1902G:p.G634G;ENSG00000153339:ENST00000580104:exon16:c.T2064G:p.G688G;ENSG00000153339:ENST00000577474:exon4:c.T411G:p.G137G;ENSG00000153339:ENST00000283351:exon15:c.T2064G:p.G688G;	0.00538852927080776	0.14
18	29451082	A	G	18	31871119	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon15:c.T2064C:p.G688G;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.T1902C:p.G634G;ENSG00000153339:ENST00000580104:exon16:c.T2064C:p.G688G;ENSG00000153339:ENST00000577474:exon4:c.T411C:p.G137G;ENSG00000153339:ENST00000283351:exon15:c.T2064C:p.G688G;	0.0118792974304293	0.196
18	29451082	A	T	18	31871119	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon15:c.T2064A:p.G688G;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.T1902A:p.G634G;ENSG00000153339:ENST00000580104:exon16:c.T2064A:p.G688G;ENSG00000153339:ENST00000577474:exon4:c.T411A:p.G137G;ENSG00000153339:ENST00000283351:exon15:c.T2064A:p.G688G;	0.00786387599316323	0.124
18	29451083	C	A	18	31871120	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.G2063T:p.G688V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.G1901T:p.G634V;ENSG00000153339:ENST00000580104:exon16:c.G2063T:p.G688V;ENSG00000153339:ENST00000577474:exon4:c.G410T:p.G137V;ENSG00000153339:ENST00000283351:exon15:c.G2063T:p.G688V;	0.999696908990858	0.994
18	29451083	C	G	18	31871120	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.G2063C:p.G688A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.G1901C:p.G634A;ENSG00000153339:ENST00000580104:exon16:c.G2063C:p.G688A;ENSG00000153339:ENST00000577474:exon4:c.G410C:p.G137A;ENSG00000153339:ENST00000283351:exon15:c.G2063C:p.G688A;	0.999721106471382	0.958
18	29451083	C	T	18	31871120	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon15:c.G2063A:p.G688D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon15:c.G1901A:p.G634D;ENSG00000153339:ENST00000580104:exon16:c.G2063A:p.G688D;ENSG00000153339:ENST00000577474:exon4:c.G410A:p.G137D;ENSG00000153339:ENST00000283351:exon15:c.G2063A:p.G688D;	0.999497227455063	0.922
18	29451084	C	A	18	31871121	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2063-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2063-1G>T;ENST00000580104:exon17:c.2063-1G>T;ENST00000582539:exon16:c.1901-1G>T;ENST00000577474:exon5:c.410-1G>T)	.	.	0.999989072007339	0.934
18	29451084	C	G	18	31871121	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2063-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2063-1G>C;ENST00000580104:exon17:c.2063-1G>C;ENST00000582539:exon16:c.1901-1G>C;ENST00000577474:exon5:c.410-1G>C)	.	.	0.999989072007339	0.934
18	29451084	C	T	18	31871121	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2063-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2063-1G>A;ENST00000580104:exon17:c.2063-1G>A;ENST00000582539:exon16:c.1901-1G>A;ENST00000577474:exon5:c.410-1G>A)	.	.	0.999989072007339	0.934
18	29451085	T	A	18	31871122	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2063-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2063-2A>T;ENST00000580104:exon17:c.2063-2A>T;ENST00000582539:exon16:c.1901-2A>T;ENST00000577474:exon5:c.410-2A>T)	.	.	0.999981808176352	0.916
18	29451085	T	C	18	31871122	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2063-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2063-2A>G;ENST00000580104:exon17:c.2063-2A>G;ENST00000582539:exon16:c.1901-2A>G;ENST00000577474:exon5:c.410-2A>G)	.	.	0.999981808176352	0.916
18	29451085	T	G	18	31871122	y	y	splicing	TRAPPC8(NM_014939:exon16:c.2063-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon16:c.2063-2A>C;ENST00000580104:exon17:c.2063-2A>C;ENST00000582539:exon16:c.1901-2A>C;ENST00000577474:exon5:c.410-2A>C)	.	.	0.999981808176352	0.916
18	29451086	A	C	18	31871123	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.961522144719812	0.68
18	29451086	A	G	18	31871123	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.65153117397539E-5	0.0
18	29451086	A	T	18	31871123	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00114078201216082	0.206
18	29451087	A	C	18	31871124	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00230949022511664	0.056
18	29451087	A	G	18	31871124	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.23047635416706E-4	0.008
18	29451087	A	T	18	31871124	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.2351574451768E-4	0.006
18	29451088	A	C	18	31871125	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.977251646291988	0.656
18	29451088	A	G	18	31871125	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0219943495053504	0.174
18	29451088	A	T	18	31871125	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.898957450954507	0.596
18	29451089	A	C	18	31871126	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.110298899693568	0.328
18	29451089	A	G	18	31871126	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.87040701958658E-5	0.0
18	29451089	A	T	18	31871126	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0360781084561986	0.296
18	29451090	A	C	18	31871127	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00580048144495153	0.094
18	29451090	A	G	18	31871127	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.33091496857231E-4	0.032
18	29451090	A	T	18	31871127	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00471059552018701	0.042
18	29451091	A	C	18	31871128	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00172362461890368	0.098
18	29451091	A	G	18	31871128	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.24370084334083E-5	0.0
18	29451091	A	T	18	31871128	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00351634852256317	0.088
18	29451092	A	C	18	31871129	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.033949738140216	0.316
18	29451092	A	G	18	31871129	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.86034277913007E-4	0.032
18	29451092	A	T	18	31871129	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.073309274645188	0.314
18	29451093	A	C	18	31871130	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998336676079166	0.912
18	29451093	A	G	18	31871130	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.45916600022652E-5	0.0
18	29451093	A	T	18	31871130	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0407219813463377	0.292
18	29451094	T	A	18	31871131	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.5075958605789E-5	0.036
18	29451094	T	C	18	31871131	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.392578428034357	0.888
18	29451094	T	G	18	31871131	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.55908716824608E-5	0.0
18	29451095	T	A	18	31871132	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.2410383844873E-5	0.0
18	29451095	T	C	18	31871132	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.318407559190647	0.442
18	29451095	T	G	18	31871132	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.97812769381855E-5	0.0
18	29453385	T	A	18	31873422	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.08240466956362E-5	0.028
18	29453385	T	C	18	31873422	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.08240466956362E-5	0.0
18	29453385	T	G	18	31873422	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.13651964451397E-5	0.002
18	29453386	T	A	18	31873423	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.91928462523283E-4	0.066
18	29453386	T	C	18	31873423	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.72506959936708E-4	0.014
18	29453386	T	G	18	31873423	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.07851404448811E-4	0.01
18	29453387	A	C	18	31873424	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.966695415662605	0.744
18	29453387	A	G	18	31873424	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.975197824908636	0.796
18	29453387	A	T	18	31873424	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.985824855753084	0.736
18	29453388	C	A	18	31873425	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999971982182161	0.98
18	29453388	C	G	18	31873425	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999976094684107	0.982
18	29453388	C	T	18	31873425	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999970350263866	0.938
18	29453389	T	A	18	31873426	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.760563349318061	0.666
18	29453389	T	C	18	31873426	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.652910962597951	0.59
18	29453389	T	G	18	31873426	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.339257010273031	0.478
18	29453390	A	C	18	31873427	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.89585689933296E-4	0.096
18	29453390	A	G	18	31873427	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.05128195370466E-4	0.184
18	29453390	A	T	18	31873427	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.23739083889134E-4	0.074
18	29453391	A	C	18	31873428	y	y	splicing	TRAPPC8(NM_014939:exon15:c.2062+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.2062+2T>G;ENST00000580104:exon16:c.2062+2T>G;ENST00000582539:exon15:c.1900+2T>G;ENST00000577474:exon4:c.409+2T>G)	.	.	0.999990764389106	0.942
18	29453391	A	G	18	31873428	y	y	splicing	TRAPPC8(NM_014939:exon15:c.2062+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.2062+2T>C;ENST00000580104:exon16:c.2062+2T>C;ENST00000582539:exon15:c.1900+2T>C;ENST00000577474:exon4:c.409+2T>C)	.	.	0.999933373721707	0.932
18	29453391	A	T	18	31873428	y	y	splicing	TRAPPC8(NM_014939:exon15:c.2062+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.2062+2T>A;ENST00000580104:exon16:c.2062+2T>A;ENST00000582539:exon15:c.1900+2T>A;ENST00000577474:exon4:c.409+2T>A)	.	.	0.999990764389106	0.942
18	29453392	C	A	18	31873429	y	y	splicing	TRAPPC8(NM_014939:exon15:c.2062+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.2062+1G>T;ENST00000580104:exon16:c.2062+1G>T;ENST00000582539:exon15:c.1900+1G>T;ENST00000577474:exon4:c.409+1G>T)	.	.	0.999992425382947	0.94
18	29453392	C	G	18	31873429	y	y	splicing	TRAPPC8(NM_014939:exon15:c.2062+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.2062+1G>C;ENST00000580104:exon16:c.2062+1G>C;ENST00000582539:exon15:c.1900+1G>C;ENST00000577474:exon4:c.409+1G>C)	.	.	0.999992425382947	0.94
18	29453392	C	T	18	31873429	y	y	splicing	TRAPPC8(NM_014939:exon15:c.2062+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.2062+1G>A;ENST00000580104:exon16:c.2062+1G>A;ENST00000582539:exon15:c.1900+1G>A;ENST00000577474:exon4:c.409+1G>A)	.	.	0.999992425382947	0.94
18	29453393	C	A	18	31873430	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.G2062T:p.G688C;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.G1900T:p.G634C;ENSG00000153339:ENST00000580104:exon15:c.G2062T:p.G688C;ENSG00000153339:ENST00000577474:exon3:c.G409T:p.G137C;ENSG00000153339:ENST00000283351:exon14:c.G2062T:p.G688C;	0.999978216391564	1.0
18	29453393	C	G	18	31873430	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.G2062C:p.G688R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.G1900C:p.G634R;ENSG00000153339:ENST00000580104:exon15:c.G2062C:p.G688R;ENSG00000153339:ENST00000577474:exon3:c.G409C:p.G137R;ENSG00000153339:ENST00000283351:exon14:c.G2062C:p.G688R;	0.999992545077035	1.0
18	29453393	C	T	18	31873430	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.G2062A:p.G688S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.G1900A:p.G634S;ENSG00000153339:ENST00000580104:exon15:c.G2062A:p.G688S;ENSG00000153339:ENST00000577474:exon3:c.G409A:p.G137S;ENSG00000153339:ENST00000283351:exon14:c.G2062A:p.G688S;	0.99999318150499	1.0
18	29453394	A	C	18	31873431	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.T2061G:p.D687E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.T1899G:p.D633E;ENSG00000153339:ENST00000580104:exon15:c.T2061G:p.D687E;ENSG00000153339:ENST00000577474:exon3:c.T408G:p.D136E;ENSG00000153339:ENST00000283351:exon14:c.T2061G:p.D687E;	0.00803537214549605	0.142
18	29453394	A	G	18	31873431	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon14:c.T2061C:p.D687D;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.T1899C:p.D633D;ENSG00000153339:ENST00000580104:exon15:c.T2061C:p.D687D;ENSG00000153339:ENST00000577474:exon3:c.T408C:p.D136D;ENSG00000153339:ENST00000283351:exon14:c.T2061C:p.D687D;	3.03188494683242E-4	0.07
18	29453394	A	T	18	31873431	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.T2061A:p.D687E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.T1899A:p.D633E;ENSG00000153339:ENST00000580104:exon15:c.T2061A:p.D687E;ENSG00000153339:ENST00000577474:exon3:c.T408A:p.D136E;ENSG00000153339:ENST00000283351:exon14:c.T2061A:p.D687E;	1.05558073423433E-4	0.078
18	29453395	T	A	18	31873432	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A2060T:p.D687V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1898T:p.D633V;ENSG00000153339:ENST00000580104:exon15:c.A2060T:p.D687V;ENSG00000153339:ENST00000577474:exon3:c.A407T:p.D136V;ENSG00000153339:ENST00000283351:exon14:c.A2060T:p.D687V;	0.986351878020024	0.768
18	29453395	T	C	18	31873432	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A2060G:p.D687G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1898G:p.D633G;ENSG00000153339:ENST00000580104:exon15:c.A2060G:p.D687G;ENSG00000153339:ENST00000577474:exon3:c.A407G:p.D136G;ENSG00000153339:ENST00000283351:exon14:c.A2060G:p.D687G;	0.781174036265087	0.538
18	29453395	T	G	18	31873432	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A2060C:p.D687A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1898C:p.D633A;ENSG00000153339:ENST00000580104:exon15:c.A2060C:p.D687A;ENSG00000153339:ENST00000577474:exon3:c.A407C:p.D136A;ENSG00000153339:ENST00000283351:exon14:c.A2060C:p.D687A;	0.202771076362755	0.272
18	29453500	T	A	18	31873537	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A1955T:p.N652I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1793T:p.N598I;ENSG00000153339:ENST00000580104:exon15:c.A1955T:p.N652I;ENSG00000153339:ENST00000577474:exon3:c.A302T:p.N101I;ENSG00000153339:ENST00000283351:exon14:c.A1955T:p.N652I;	6.84445270477931E-5	0.002
18	29453500	T	C	18	31873537	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A1955G:p.N652S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1793G:p.N598S;ENSG00000153339:ENST00000580104:exon15:c.A1955G:p.N652S;ENSG00000153339:ENST00000577474:exon3:c.A302G:p.N101S;ENSG00000153339:ENST00000283351:exon14:c.A1955G:p.N652S;	3.26862838505877E-4	0.026
18	29453500	T	G	18	31873537	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A1955C:p.N652T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1793C:p.N598T;ENSG00000153339:ENST00000580104:exon15:c.A1955C:p.N652T;ENSG00000153339:ENST00000577474:exon3:c.A302C:p.N101T;ENSG00000153339:ENST00000283351:exon14:c.A1955C:p.N652T;	7.91469618795546E-4	0.012
18	29453501	T	A	18	31873538	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A1954T:p.N652Y;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1792T:p.N598Y;ENSG00000153339:ENST00000580104:exon15:c.A1954T:p.N652Y;ENSG00000153339:ENST00000577474:exon3:c.A301T:p.N101Y;ENSG00000153339:ENST00000283351:exon14:c.A1954T:p.N652Y;	0.215588173774517	0.418
18	29453501	T	C	18	31873538	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A1954G:p.N652D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1792G:p.N598D;ENSG00000153339:ENST00000580104:exon15:c.A1954G:p.N652D;ENSG00000153339:ENST00000577474:exon3:c.A301G:p.N101D;ENSG00000153339:ENST00000283351:exon14:c.A1954G:p.N652D;	0.109269620221075	0.4
18	29453501	T	G	18	31873538	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon14:c.A1954C:p.N652H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon14:c.A1792C:p.N598H;ENSG00000153339:ENST00000580104:exon15:c.A1954C:p.N652H;ENSG00000153339:ENST00000577474:exon3:c.A301C:p.N101H;ENSG00000153339:ENST00000283351:exon14:c.A1954C:p.N652H;	0.197667659420216	0.388
18	29453502	C	A	18	31873539	y	y	splicing	TRAPPC8(NM_014939:exon15:c.1954-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.1954-1G>T;ENST00000580104:exon16:c.1954-1G>T;ENST00000582539:exon15:c.1792-1G>T;ENST00000577474:exon4:c.301-1G>T)	.	.	0.999990361384395	0.938
18	29453502	C	G	18	31873539	y	y	splicing	TRAPPC8(NM_014939:exon15:c.1954-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.1954-1G>C;ENST00000580104:exon16:c.1954-1G>C;ENST00000582539:exon15:c.1792-1G>C;ENST00000577474:exon4:c.301-1G>C)	.	.	0.999990361384395	0.938
18	29453502	C	T	18	31873539	y	y	splicing	TRAPPC8(NM_014939:exon15:c.1954-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.1954-1G>A;ENST00000580104:exon16:c.1954-1G>A;ENST00000582539:exon15:c.1792-1G>A;ENST00000577474:exon4:c.301-1G>A)	.	.	0.999990361384395	0.938
18	29453503	T	A	18	31873540	y	y	splicing	TRAPPC8(NM_014939:exon15:c.1954-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.1954-2A>T;ENST00000580104:exon16:c.1954-2A>T;ENST00000582539:exon15:c.1792-2A>T;ENST00000577474:exon4:c.301-2A>T)	.	.	0.999988247793601	0.932
18	29453503	T	C	18	31873540	y	y	splicing	TRAPPC8(NM_014939:exon15:c.1954-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.1954-2A>G;ENST00000580104:exon16:c.1954-2A>G;ENST00000582539:exon15:c.1792-2A>G;ENST00000577474:exon4:c.301-2A>G)	.	.	0.999988247793601	0.932
18	29453503	T	G	18	31873540	y	y	splicing	TRAPPC8(NM_014939:exon15:c.1954-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon15:c.1954-2A>C;ENST00000580104:exon16:c.1954-2A>C;ENST00000582539:exon15:c.1792-2A>C;ENST00000577474:exon4:c.301-2A>C)	.	.	0.999988247793601	0.932
18	29453504	G	A	18	31873541	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.51192079739096E-4	0.024
18	29453504	G	C	18	31873541	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999461118838525	0.978
18	29453504	G	T	18	31873541	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.861390855808593	0.646
18	29453505	A	C	18	31873542	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.22123816540408E-5	0.0
18	29453505	A	G	18	31873542	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.51496828678508E-5	0.006
18	29453505	A	T	18	31873542	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.14349840945367E-4	0.006
18	29453506	G	A	18	31873543	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.88159854525091E-5	0.088
18	29453506	G	C	18	31873543	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0141371002086729	0.152
18	29453506	G	T	18	31873543	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00234605326403439	0.11
18	29453507	A	C	18	31873544	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.915141714083285	0.838
18	29453507	A	G	18	31873544	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.77788060206742E-4	0.008
18	29453507	A	T	18	31873544	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.938118798735179	0.77
18	29453508	G	A	18	31873545	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.10925069388325E-4	0.01
18	29453508	G	C	18	31873545	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0181883953474826	0.174
18	29453508	G	T	18	31873545	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00805480080495821	0.172
18	29453509	A	C	18	31873546	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995654791824518	0.704
18	29453509	A	G	18	31873546	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.774351081438645	0.768
18	29453509	A	T	18	31873546	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999016751103569	0.822
18	29453510	A	C	18	31873547	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997937287431665	0.774
18	29453510	A	G	18	31873547	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.265054688529036	0.458
18	29453510	A	T	18	31873547	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.996564827090725	0.752
18	29453511	A	C	18	31873548	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999932597090914	0.94
18	29453511	A	G	18	31873548	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.224659978742993	0.462
18	29453511	A	T	18	31873548	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999149558389148	0.878
18	29453512	T	A	18	31873549	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.5349976761214E-5	0.07
18	29453512	T	C	18	31873549	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.50242759935704E-6	0.012
18	29453512	T	G	18	31873549	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.90895030100424E-6	0.046
18	29453513	A	C	18	31873550	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99896988965162	0.936
18	29453513	A	G	18	31873550	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.40589434032371E-4	0.03
18	29453513	A	T	18	31873550	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.767330804953392	0.456
18	29454435	G	A	18	31874472	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.C1961T:p.A654V;	6.30603606508439E-4	0.022
18	29454435	G	C	18	31874472	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.C1961G:p.A654G;	0.00159252903500491	0.218
18	29454435	G	T	18	31874472	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.C1961A:p.A654D;	4.99279950300025E-4	0.026
18	29454436	C	A	18	31874473	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1960T:p.A654S;	0.00507562819209276	0.354
18	29454436	C	G	18	31874473	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1960C:p.A654P;	1.35412471205431E-4	0.038
18	29454436	C	T	18	31874473	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1960A:p.A654T;	8.43015083481172E-5	0.152
18	29454437	A	C	18	31874474	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.T1959G:p.T653T;	0.00113989703814596	0.144
18	29454437	A	G	18	31874474	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.T1959C:p.T653T;	0.00958703035134642	0.17
18	29454437	A	T	18	31874474	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.T1959A:p.T653T;	0.0143482457958102	0.186
18	29454438	G	A	18	31874475	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.C1958T:p.T653I;	1.37277531945824E-4	0.048
18	29454438	G	C	18	31874475	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.C1958G:p.T653S;	1.07875411788349E-4	0.03
18	29454438	G	T	18	31874475	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.C1958A:p.T653N;	7.04244319738281E-5	0.028
18	29454439	T	A	18	31874476	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.A1957T:p.T653S;	0.997611341467159	0.846
18	29454439	T	C	18	31874476	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.A1957G:p.T653A;	0.967086474338555	0.776
18	29454439	T	G	18	31874476	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.A1957C:p.T653P;	0.492565304008966	0.482
18	29454440	C	A	18	31874477	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1956T:p.V652V;	0.584720219377951	0.364
18	29454440	C	G	18	31874477	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1956C:p.V652V;	0.0426391007400649	0.336
18	29454440	C	T	18	31874477	y	n	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1956A:p.V652V;	2.76126052569918E-5	0.064
18	29454441	A	C	18	31874478	y	n	splicing	TRAPPC8(NM_014939:exon14:c.1953+2T>G)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon14:c.1953+2T>G;ENST00000580104:exon15:c.1953+2T>G;ENST00000582539:exon14:c.1791+2T>G;ENST00000577474:exon3:c.300+2T>G)	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.T1955G:p.V652G;	0.999986741007567	0.94
18	29454441	A	G	18	31874478	y	n	splicing	TRAPPC8(NM_014939:exon14:c.1953+2T>C)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon14:c.1953+2T>C;ENST00000580104:exon15:c.1953+2T>C;ENST00000582539:exon14:c.1791+2T>C;ENST00000577474:exon3:c.300+2T>C)	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.T1955C:p.V652A;	0.999926059592539	0.866
18	29454441	A	T	18	31874478	y	n	splicing	TRAPPC8(NM_014939:exon14:c.1953+2T>A)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon14:c.1953+2T>A;ENST00000580104:exon15:c.1953+2T>A;ENST00000582539:exon14:c.1791+2T>A;ENST00000577474:exon3:c.300+2T>A)	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.T1955A:p.V652E;	0.999986741007567	0.94
18	29454442	C	A	18	31874479	y	n	splicing	TRAPPC8(NM_014939:exon14:c.1953+1G>T)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon14:c.1953+1G>T;ENST00000580104:exon15:c.1953+1G>T;ENST00000582539:exon14:c.1791+1G>T;ENST00000577474:exon3:c.300+1G>T)	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1954T:p.V652L;	0.999984967332678	0.938
18	29454442	C	G	18	31874479	y	n	splicing	TRAPPC8(NM_014939:exon14:c.1953+1G>C)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon14:c.1953+1G>C;ENST00000580104:exon15:c.1953+1G>C;ENST00000582539:exon14:c.1791+1G>C;ENST00000577474:exon3:c.300+1G>C)	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1954C:p.V652L;	0.999984967332678	0.938
18	29454442	C	T	18	31874479	y	n	splicing	TRAPPC8(NM_014939:exon14:c.1953+1G>A)	.	.	exonic;splicing	ENSG00000153339;ENSG00000153339(ENST00000283351:exon14:c.1953+1G>A;ENST00000580104:exon15:c.1953+1G>A;ENST00000582539:exon14:c.1791+1G>A;ENST00000577474:exon3:c.300+1G>A)	nonsynonymous SNV	ENSG00000153339:ENST00000582513:exon13:c.G1954A:p.V652M;	0.999984967332678	0.938
18	29454443	C	A	18	31874480	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.G1953T:p.K651N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.G1791T:p.K597N;ENSG00000153339:ENST00000580104:exon14:c.G1953T:p.K651N;ENSG00000153339:ENST00000577474:exon2:c.G300T:p.K100N;ENSG00000153339:ENST00000582513:exon13:c.G1953T:p.K651N;ENSG00000153339:ENST00000283351:exon13:c.G1953T:p.K651N;	0.999539241571311	0.99
18	29454443	C	G	18	31874480	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.G1953C:p.K651N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.G1791C:p.K597N;ENSG00000153339:ENST00000580104:exon14:c.G1953C:p.K651N;ENSG00000153339:ENST00000577474:exon2:c.G300C:p.K100N;ENSG00000153339:ENST00000582513:exon13:c.G1953C:p.K651N;ENSG00000153339:ENST00000283351:exon13:c.G1953C:p.K651N;	0.999986917010523	0.994
18	29454443	C	T	18	31874480	y	n	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon13:c.G1953A:p.K651K;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.G1791A:p.K597K;ENSG00000153339:ENST00000580104:exon14:c.G1953A:p.K651K;ENSG00000153339:ENST00000577474:exon2:c.G300A:p.K100K;ENSG00000153339:ENST00000582513:exon13:c.G1953A:p.K651K;ENSG00000153339:ENST00000283351:exon13:c.G1953A:p.K651K;	0.999982806010088	0.998
18	29454444	T	A	18	31874481	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1952T:p.K651M;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1790T:p.K597M;ENSG00000153339:ENST00000580104:exon14:c.A1952T:p.K651M;ENSG00000153339:ENST00000577474:exon2:c.A299T:p.K100M;ENSG00000153339:ENST00000582513:exon13:c.A1952T:p.K651M;ENSG00000153339:ENST00000283351:exon13:c.A1952T:p.K651M;	0.993536944503058	0.73
18	29454444	T	C	18	31874481	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1952G:p.K651R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1790G:p.K597R;ENSG00000153339:ENST00000580104:exon14:c.A1952G:p.K651R;ENSG00000153339:ENST00000577474:exon2:c.A299G:p.K100R;ENSG00000153339:ENST00000582513:exon13:c.A1952G:p.K651R;ENSG00000153339:ENST00000283351:exon13:c.A1952G:p.K651R;	0.999461594735307	0.966
18	29454444	T	G	18	31874481	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1952C:p.K651T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1790C:p.K597T;ENSG00000153339:ENST00000580104:exon14:c.A1952C:p.K651T;ENSG00000153339:ENST00000577474:exon2:c.A299C:p.K100T;ENSG00000153339:ENST00000582513:exon13:c.A1952C:p.K651T;ENSG00000153339:ENST00000283351:exon13:c.A1952C:p.K651T;	0.986751135749714	0.82
18	29454445	T	A	18	31874482	y	n	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon13:c.A1951T:p.K651X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon13:c.A1789T:p.K597X;ENSG00000153339:ENST00000580104:exon14:c.A1951T:p.K651X;ENSG00000153339:ENST00000577474:exon2:c.A298T:p.K100X;ENSG00000153339:ENST00000582513:exon13:c.A1951T:p.K651X;ENSG00000153339:ENST00000283351:exon13:c.A1951T:p.K651X;	0.976434191097599	0.756
18	29454445	T	C	18	31874482	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1951G:p.K651E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1789G:p.K597E;ENSG00000153339:ENST00000580104:exon14:c.A1951G:p.K651E;ENSG00000153339:ENST00000577474:exon2:c.A298G:p.K100E;ENSG00000153339:ENST00000582513:exon13:c.A1951G:p.K651E;ENSG00000153339:ENST00000283351:exon13:c.A1951G:p.K651E;	0.00341197478101185	0.108
18	29454445	T	G	18	31874482	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1951C:p.K651Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1789C:p.K597Q;ENSG00000153339:ENST00000580104:exon14:c.A1951C:p.K651Q;ENSG00000153339:ENST00000577474:exon2:c.A298C:p.K100Q;ENSG00000153339:ENST00000582513:exon13:c.A1951C:p.K651Q;ENSG00000153339:ENST00000283351:exon13:c.A1951C:p.K651Q;	1.72584890293459E-4	0.046
18	29454666	T	A	18	31874703	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1730T:p.K577I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1568T:p.K523I;ENSG00000153339:ENST00000580104:exon14:c.A1730T:p.K577I;ENSG00000153339:ENST00000577474:exon2:c.A77T:p.K26I;ENSG00000153339:ENST00000582513:exon13:c.A1730T:p.K577I;ENSG00000153339:ENST00000283351:exon13:c.A1730T:p.K577I;	0.0316609796600975	0.19
18	29454666	T	C	18	31874703	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1730G:p.K577R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1568G:p.K523R;ENSG00000153339:ENST00000580104:exon14:c.A1730G:p.K577R;ENSG00000153339:ENST00000577474:exon2:c.A77G:p.K26R;ENSG00000153339:ENST00000582513:exon13:c.A1730G:p.K577R;ENSG00000153339:ENST00000283351:exon13:c.A1730G:p.K577R;	0.0592046137386138	0.214
18	29454666	T	G	18	31874703	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1730C:p.K577T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1568C:p.K523T;ENSG00000153339:ENST00000580104:exon14:c.A1730C:p.K577T;ENSG00000153339:ENST00000577474:exon2:c.A77C:p.K26T;ENSG00000153339:ENST00000582513:exon13:c.A1730C:p.K577T;ENSG00000153339:ENST00000283351:exon13:c.A1730C:p.K577T;	0.0161683492820118	0.062
18	29454667	T	A	18	31874704	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon13:c.A1729T:p.K577X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon13:c.A1567T:p.K523X;ENSG00000153339:ENST00000580104:exon14:c.A1729T:p.K577X;ENSG00000153339:ENST00000577474:exon2:c.A76T:p.K26X;ENSG00000153339:ENST00000582513:exon13:c.A1729T:p.K577X;ENSG00000153339:ENST00000283351:exon13:c.A1729T:p.K577X;	0.395922722520471	0.636
18	29454667	T	C	18	31874704	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1729G:p.K577E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1567G:p.K523E;ENSG00000153339:ENST00000580104:exon14:c.A1729G:p.K577E;ENSG00000153339:ENST00000577474:exon2:c.A76G:p.K26E;ENSG00000153339:ENST00000582513:exon13:c.A1729G:p.K577E;ENSG00000153339:ENST00000283351:exon13:c.A1729G:p.K577E;	0.0167787570059156	0.156
18	29454667	T	G	18	31874704	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon13:c.A1729C:p.K577Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon13:c.A1567C:p.K523Q;ENSG00000153339:ENST00000580104:exon14:c.A1729C:p.K577Q;ENSG00000153339:ENST00000577474:exon2:c.A76C:p.K26Q;ENSG00000153339:ENST00000582513:exon13:c.A1729C:p.K577Q;ENSG00000153339:ENST00000283351:exon13:c.A1729C:p.K577Q;	0.00984797143967167	0.128
18	29454668	C	A	18	31874705	y	y	splicing	TRAPPC8(NM_014939:exon14:c.1729-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon14:c.1729-1G>T;ENST00000580104:exon15:c.1729-1G>T;ENST00000582539:exon14:c.1567-1G>T;ENST00000577474:exon3:c.76-1G>T;ENST00000582513:exon14:c.1729-1G>T)	.	.	0.999986675681007	0.932
18	29454668	C	G	18	31874705	y	y	splicing	TRAPPC8(NM_014939:exon14:c.1729-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon14:c.1729-1G>C;ENST00000580104:exon15:c.1729-1G>C;ENST00000582539:exon14:c.1567-1G>C;ENST00000577474:exon3:c.76-1G>C;ENST00000582513:exon14:c.1729-1G>C)	.	.	0.999986675681007	0.932
18	29454668	C	T	18	31874705	y	y	splicing	TRAPPC8(NM_014939:exon14:c.1729-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon14:c.1729-1G>A;ENST00000580104:exon15:c.1729-1G>A;ENST00000582539:exon14:c.1567-1G>A;ENST00000577474:exon3:c.76-1G>A;ENST00000582513:exon14:c.1729-1G>A)	.	.	0.999986675681007	0.932
18	29454669	T	A	18	31874706	y	y	splicing	TRAPPC8(NM_014939:exon14:c.1729-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon14:c.1729-2A>T;ENST00000580104:exon15:c.1729-2A>T;ENST00000582539:exon14:c.1567-2A>T;ENST00000577474:exon3:c.76-2A>T;ENST00000582513:exon14:c.1729-2A>T)	.	.	0.999988247793601	0.928
18	29454669	T	C	18	31874706	y	y	splicing	TRAPPC8(NM_014939:exon14:c.1729-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon14:c.1729-2A>G;ENST00000580104:exon15:c.1729-2A>G;ENST00000582539:exon14:c.1567-2A>G;ENST00000577474:exon3:c.76-2A>G;ENST00000582513:exon14:c.1729-2A>G)	.	.	0.999988247793601	0.928
18	29454669	T	G	18	31874706	y	y	splicing	TRAPPC8(NM_014939:exon14:c.1729-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon14:c.1729-2A>C;ENST00000580104:exon15:c.1729-2A>C;ENST00000582539:exon14:c.1567-2A>C;ENST00000577474:exon3:c.76-2A>C;ENST00000582513:exon14:c.1729-2A>C)	.	.	0.999988247793601	0.928
18	29454670	G	A	18	31874707	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0154689447974828	0.118
18	29454670	G	C	18	31874707	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999861904130196	0.9
18	29454670	G	T	18	31874707	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995676742738255	0.864
18	29454671	T	A	18	31874708	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.27293472431341E-4	0.02
18	29454671	T	C	18	31874708	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.45782059309745E-5	0.014
18	29454671	T	G	18	31874708	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.09276484385707E-4	0.0
18	29454672	A	C	18	31874709	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0227348152586171	0.156
18	29454672	A	G	18	31874709	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.14309329947307E-4	0.012
18	29454672	A	T	18	31874709	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0143161713339929	0.15
18	29454673	A	C	18	31874710	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.161477629871281	0.266
18	29454673	A	G	18	31874710	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00429735687427582	0.062
18	29454673	A	T	18	31874710	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.281249095601776	0.28
18	29454674	G	A	18	31874711	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.1037137359408E-4	0.014
18	29454674	G	C	18	31874711	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00348383344685853	0.068
18	29454674	G	T	18	31874711	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0256133130833437	0.124
18	29454675	A	C	18	31874712	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00349530101069403	0.204
18	29454675	A	G	18	31874712	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.90814580656315E-4	0.004
18	29454675	A	T	18	31874712	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00892529165270883	0.172
18	29454676	A	C	18	31874713	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00257477544631878	0.172
18	29454676	A	G	18	31874713	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.08635052450819E-4	0.122
18	29454676	A	T	18	31874713	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0071801115297582	0.18
18	29454677	A	C	18	31874714	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.166714122824957	0.488
18	29454677	A	G	18	31874714	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.104172729954668	0.46
18	29454677	A	T	18	31874714	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.504861337339733	0.556
18	29454678	A	C	18	31874715	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999962354263614	0.952
18	29454678	A	G	18	31874715	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.130233135307272	0.362
18	29454678	A	T	18	31874715	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.639283630987279	0.514
18	29454679	T	A	18	31874716	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.25098010246699E-5	0.174
18	29454679	T	C	18	31874716	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.6344719364931E-5	0.112
18	29454679	T	G	18	31874716	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.41811486704809E-5	0.116
18	29470690	G	A	18	31890727	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.36191416255232E-5	0.002
18	29470690	G	C	18	31890727	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.24200242815801E-5	0.0
18	29470690	G	T	18	31890727	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.24200242815801E-5	0.0
18	29470691	C	A	18	31890728	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.95448509927641E-5	0.0
18	29470691	C	G	18	31890728	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.73386572137077E-5	0.0
18	29470691	C	T	18	31890728	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.5795485938116E-5	0.0
18	29470692	A	C	18	31890729	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0302779992890857	0.218
18	29470692	A	G	18	31890729	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.103357460485577	0.282
18	29470692	A	T	18	31890729	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.230184904167297	0.308
18	29470693	C	A	18	31890730	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999106949498938	0.91
18	29470693	C	G	18	31890730	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999334081380705	0.892
18	29470693	C	T	18	31890730	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.9996139688736	0.962
18	29470694	T	A	18	31890731	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.974569200296076	0.722
18	29470694	T	C	18	31890731	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.966794725727986	0.596
18	29470694	T	G	18	31890731	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.76665783254396	0.422
18	29470695	C	A	18	31890732	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0453149034068131	0.406
18	29470695	C	G	18	31890732	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0951044922039666	0.47
18	29470695	C	T	18	31890732	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.31845951523333E-5	0.002
18	29470696	A	C	18	31890733	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1728+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1728+2T>G;ENST00000580104:exon14:c.1728+2T>G;ENST00000582539:exon13:c.1566+2T>G;ENST00000577474:exon2:c.75+2T>G;ENST00000582513:exon13:c.1728+2T>G)	.	.	0.999988247793601	0.93
18	29470696	A	G	18	31890733	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1728+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1728+2T>C;ENST00000580104:exon14:c.1728+2T>C;ENST00000582539:exon13:c.1566+2T>C;ENST00000577474:exon2:c.75+2T>C;ENST00000582513:exon13:c.1728+2T>C)	.	.	0.999943260809542	0.866
18	29470696	A	T	18	31890733	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1728+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1728+2T>A;ENST00000580104:exon14:c.1728+2T>A;ENST00000582539:exon13:c.1566+2T>A;ENST00000577474:exon2:c.75+2T>A;ENST00000582513:exon13:c.1728+2T>A)	.	.	0.999988247793601	0.93
18	29470697	C	A	18	31890734	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1728+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1728+1G>T;ENST00000580104:exon14:c.1728+1G>T;ENST00000582539:exon13:c.1566+1G>T;ENST00000577474:exon2:c.75+1G>T;ENST00000582513:exon13:c.1728+1G>T)	.	.	0.999989072007339	0.934
18	29470697	C	G	18	31890734	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1728+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1728+1G>C;ENST00000580104:exon14:c.1728+1G>C;ENST00000582539:exon13:c.1566+1G>C;ENST00000577474:exon2:c.75+1G>C;ENST00000582513:exon13:c.1728+1G>C)	.	.	0.999989072007339	0.934
18	29470697	C	T	18	31890734	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1728+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1728+1G>A;ENST00000580104:exon14:c.1728+1G>A;ENST00000582539:exon13:c.1566+1G>A;ENST00000577474:exon2:c.75+1G>A;ENST00000582513:exon13:c.1728+1G>A)	.	.	0.999989072007339	0.934
18	29470698	C	A	18	31890735	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.G1728T:p.Q576H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.G1566T:p.Q522H;ENSG00000153339:ENST00000580104:exon13:c.G1728T:p.Q576H;ENSG00000153339:ENST00000577474:exon1:c.G75T:p.Q25H;ENSG00000153339:ENST00000582513:exon12:c.G1728T:p.Q576H;ENSG00000153339:ENST00000283351:exon12:c.G1728T:p.Q576H;	0.877385207809913	0.596
18	29470698	C	G	18	31890735	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.G1728C:p.Q576H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.G1566C:p.Q522H;ENSG00000153339:ENST00000580104:exon13:c.G1728C:p.Q576H;ENSG00000153339:ENST00000577474:exon1:c.G75C:p.Q25H;ENSG00000153339:ENST00000582513:exon12:c.G1728C:p.Q576H;ENSG00000153339:ENST00000283351:exon12:c.G1728C:p.Q576H;	0.8784559317198	0.594
18	29470698	C	T	18	31890735	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon12:c.G1728A:p.Q576Q;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.G1566A:p.Q522Q;ENSG00000153339:ENST00000580104:exon13:c.G1728A:p.Q576Q;ENSG00000153339:ENST00000577474:exon1:c.G75A:p.Q25Q;ENSG00000153339:ENST00000582513:exon12:c.G1728A:p.Q576Q;ENSG00000153339:ENST00000283351:exon12:c.G1728A:p.Q576Q;	0.86688631285865	0.506
18	29470699	T	A	18	31890736	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.A1727T:p.Q576L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.A1565T:p.Q522L;ENSG00000153339:ENST00000580104:exon13:c.A1727T:p.Q576L;ENSG00000153339:ENST00000577474:exon1:c.A74T:p.Q25L;ENSG00000153339:ENST00000582513:exon12:c.A1727T:p.Q576L;ENSG00000153339:ENST00000283351:exon12:c.A1727T:p.Q576L;	0.97940944569318	0.798
18	29470699	T	C	18	31890736	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.A1727G:p.Q576R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.A1565G:p.Q522R;ENSG00000153339:ENST00000580104:exon13:c.A1727G:p.Q576R;ENSG00000153339:ENST00000577474:exon1:c.A74G:p.Q25R;ENSG00000153339:ENST00000582513:exon12:c.A1727G:p.Q576R;ENSG00000153339:ENST00000283351:exon12:c.A1727G:p.Q576R;	0.98865489378567	0.95
18	29470699	T	G	18	31890736	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.A1727C:p.Q576P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.A1565C:p.Q522P;ENSG00000153339:ENST00000580104:exon13:c.A1727C:p.Q576P;ENSG00000153339:ENST00000577474:exon1:c.A74C:p.Q25P;ENSG00000153339:ENST00000582513:exon12:c.A1727C:p.Q576P;ENSG00000153339:ENST00000283351:exon12:c.A1727C:p.Q576P;	0.935981446424952	0.796
18	29470700	G	A	18	31890737	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon12:c.C1726T:p.Q576X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon12:c.C1564T:p.Q522X;ENSG00000153339:ENST00000580104:exon13:c.C1726T:p.Q576X;ENSG00000153339:ENST00000577474:exon1:c.C73T:p.Q25X;ENSG00000153339:ENST00000582513:exon12:c.C1726T:p.Q576X;ENSG00000153339:ENST00000283351:exon12:c.C1726T:p.Q576X;	0.997868394781608	0.814
18	29470700	G	C	18	31890737	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.C1726G:p.Q576E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.C1564G:p.Q522E;ENSG00000153339:ENST00000580104:exon13:c.C1726G:p.Q576E;ENSG00000153339:ENST00000577474:exon1:c.C73G:p.Q25E;ENSG00000153339:ENST00000582513:exon12:c.C1726G:p.Q576E;ENSG00000153339:ENST00000283351:exon12:c.C1726G:p.Q576E;	0.86500862923868	0.532
18	29470700	G	T	18	31890737	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.C1726A:p.Q576K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.C1564A:p.Q522K;ENSG00000153339:ENST00000580104:exon13:c.C1726A:p.Q576K;ENSG00000153339:ENST00000577474:exon1:c.C73A:p.Q25K;ENSG00000153339:ENST00000582513:exon12:c.C1726A:p.Q576K;ENSG00000153339:ENST00000283351:exon12:c.C1726A:p.Q576K;	0.9429701833567	0.79
18	29470828	T	A	18	31890865	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.A1598T:p.D533V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.A1436T:p.D479V;ENSG00000153339:ENST00000580104:exon13:c.A1598T:p.D533V;ENSG00000153339:ENST00000582513:exon12:c.A1598T:p.D533V;ENSG00000153339:ENST00000283351:exon12:c.A1598T:p.D533V;	0.0144749884281498	0.346
18	29470828	T	C	18	31890865	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.A1598G:p.D533G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.A1436G:p.D479G;ENSG00000153339:ENST00000580104:exon13:c.A1598G:p.D533G;ENSG00000153339:ENST00000582513:exon12:c.A1598G:p.D533G;ENSG00000153339:ENST00000283351:exon12:c.A1598G:p.D533G;	0.130184492328127	0.392
18	29470828	T	G	18	31890865	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.A1598C:p.D533A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.A1436C:p.D479A;ENSG00000153339:ENST00000580104:exon13:c.A1598C:p.D533A;ENSG00000153339:ENST00000582513:exon12:c.A1598C:p.D533A;ENSG00000153339:ENST00000283351:exon12:c.A1598C:p.D533A;	0.168147667183645	0.39
18	29470829	C	A	18	31890866	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.G1597T:p.D533Y;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.G1435T:p.D479Y;ENSG00000153339:ENST00000580104:exon13:c.G1597T:p.D533Y;ENSG00000153339:ENST00000582513:exon12:c.G1597T:p.D533Y;ENSG00000153339:ENST00000283351:exon12:c.G1597T:p.D533Y;	0.999320761184029	0.964
18	29470829	C	G	18	31890866	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.G1597C:p.D533H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.G1435C:p.D479H;ENSG00000153339:ENST00000580104:exon13:c.G1597C:p.D533H;ENSG00000153339:ENST00000582513:exon12:c.G1597C:p.D533H;ENSG00000153339:ENST00000283351:exon12:c.G1597C:p.D533H;	0.998820811174779	0.936
18	29470829	C	T	18	31890866	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon12:c.G1597A:p.D533N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon12:c.G1435A:p.D479N;ENSG00000153339:ENST00000580104:exon13:c.G1597A:p.D533N;ENSG00000153339:ENST00000582513:exon12:c.G1597A:p.D533N;ENSG00000153339:ENST00000283351:exon12:c.G1597A:p.D533N;	0.999803892488214	0.904
18	29470830	C	A	18	31890867	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1597-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1597-1G>T;ENST00000580104:exon14:c.1597-1G>T;ENST00000582539:exon13:c.1435-1G>T;ENST00000582513:exon13:c.1597-1G>T)	.	.	0.999994863145287	0.918
18	29470830	C	G	18	31890867	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1597-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1597-1G>C;ENST00000580104:exon14:c.1597-1G>C;ENST00000582539:exon13:c.1435-1G>C;ENST00000582513:exon13:c.1597-1G>C)	.	.	0.999994863145287	0.918
18	29470830	C	T	18	31890867	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1597-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1597-1G>A;ENST00000580104:exon14:c.1597-1G>A;ENST00000582539:exon13:c.1435-1G>A;ENST00000582513:exon13:c.1597-1G>A)	.	.	0.999994863145287	0.918
18	29470831	T	A	18	31890868	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1597-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1597-2A>T;ENST00000580104:exon14:c.1597-2A>T;ENST00000582539:exon13:c.1435-2A>T;ENST00000582513:exon13:c.1597-2A>T)	.	.	0.999994863145287	0.932
18	29470831	T	C	18	31890868	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1597-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1597-2A>G;ENST00000580104:exon14:c.1597-2A>G;ENST00000582539:exon13:c.1435-2A>G;ENST00000582513:exon13:c.1597-2A>G)	.	.	0.999994863145287	0.932
18	29470831	T	G	18	31890868	y	y	splicing	TRAPPC8(NM_014939:exon13:c.1597-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon13:c.1597-2A>C;ENST00000580104:exon14:c.1597-2A>C;ENST00000582539:exon13:c.1435-2A>C;ENST00000582513:exon13:c.1597-2A>C)	.	.	0.999994863145287	0.932
18	29470832	A	C	18	31890869	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.993112216174027	0.68
18	29470832	A	G	18	31890869	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.00136035509439172	0.092
18	29470832	A	T	18	31890869	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.535544587794799	0.51
18	29470833	G	A	18	31890870	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	4.44307645310231E-5	0.0
18	29470833	G	C	18	31890870	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.984371447270881	0.936
18	29470833	G	T	18	31890870	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	4.57799212019933E-5	0.0
18	29470834	T	A	18	31890871	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.00326981703830328	0.08
18	29470834	T	C	18	31890871	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.0245513217266787	0.058
18	29470834	T	G	18	31890871	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.00193895422308445	0.036
18	29470835	G	A	18	31890872	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.00170526419556802	0.08
18	29470835	G	C	18	31890872	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.532039935614413	0.592
18	29470835	G	T	18	31890872	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.717309137498356	0.634
18	29470836	A	C	18	31890873	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.968554283487632	0.678
18	29470836	A	G	18	31890873	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.00411007726264327	0.118
18	29470836	A	T	18	31890873	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.884151340906366	0.624
18	29470837	A	C	18	31890874	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.999941980473872	0.97
18	29470837	A	G	18	31890874	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.0134724714448953	0.164
18	29470837	A	T	18	31890874	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.893529789921616	0.646
18	29470838	T	A	18	31890875	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	2.71335096987374E-4	0.05
18	29470838	T	C	18	31890875	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	1.02453454887734E-4	0.01
18	29470838	T	G	18	31890875	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	4.71669589411548E-5	0.014
18	29470839	G	A	18	31890876	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	3.39128749244911E-4	0.028
18	29470839	G	C	18	31890876	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.999915199272274	0.962
18	29470839	G	T	18	31890876	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.00330599965201335	0.126
18	29470840	T	A	18	31890877	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.0751190464233392	0.332
18	29470840	T	C	18	31890877	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.999518067918055	0.934
18	29470840	T	G	18	31890877	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.00666176687262453	0.244
18	29470841	T	A	18	31890878	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	3.7367097872871E-5	0.048
18	29470841	T	C	18	31890878	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	0.99867753324996	0.956
18	29470841	T	G	18	31890878	y	y	intronic	TRAPPC8	.	.	UTR5	ENSG00000153339	.	.	2.98746830949771E-5	0.026
18	29477741	T	A	18	31897778	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00382861558456241	0.042
18	29477741	T	C	18	31897778	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00382861558456241	0.11
18	29477741	T	G	18	31897778	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00382861558456241	0.11
18	29477742	T	A	18	31897779	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00145052634171256	0.002
18	29477742	T	C	18	31897779	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00145052634171256	0.008
18	29477742	T	G	18	31897779	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00162937879029418	0.002
18	29477743	C	A	18	31897780	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.88657119531945E-4	0.03
18	29477743	C	G	18	31897780	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0102980862316495	0.266
18	29477743	C	T	18	31897780	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0103690426527627	0.162
18	29477744	A	C	18	31897781	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00269706607745869	0.088
18	29477744	A	G	18	31897781	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00416212325045187	0.11
18	29477744	A	T	18	31897781	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.010463956763465	0.14
18	29477745	G	A	18	31897782	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00344462483138723	0.194
18	29477745	G	C	18	31897782	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00299823973583153	0.21
18	29477745	G	T	18	31897782	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.49188704360912E-4	0.056
18	29477746	T	A	18	31897783	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999972152622625	0.954
18	29477746	T	C	18	31897783	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999227021856121	0.908
18	29477746	T	G	18	31897783	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999968429652283	0.95
18	29477747	A	C	18	31897784	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1596+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1596+2T>G;ENST00000580104:exon13:c.1596+2T>G;ENST00000582539:exon12:c.1434+2T>G;ENST00000582513:exon12:c.1596+2T>G)	.	.	0.999991478261395	0.936
18	29477747	A	G	18	31897784	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1596+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1596+2T>C;ENST00000580104:exon13:c.1596+2T>C;ENST00000582539:exon12:c.1434+2T>C;ENST00000582513:exon12:c.1596+2T>C)	.	.	0.995037927398873	0.614
18	29477747	A	T	18	31897784	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1596+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1596+2T>A;ENST00000580104:exon13:c.1596+2T>A;ENST00000582539:exon12:c.1434+2T>A;ENST00000582513:exon12:c.1596+2T>A)	.	.	0.999991478261395	0.936
18	29477748	C	A	18	31897785	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1596+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1596+1G>T;ENST00000580104:exon13:c.1596+1G>T;ENST00000582539:exon12:c.1434+1G>T;ENST00000582513:exon12:c.1596+1G>T)	.	.	0.999986741007567	0.922
18	29477748	C	G	18	31897785	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1596+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1596+1G>C;ENST00000580104:exon13:c.1596+1G>C;ENST00000582539:exon12:c.1434+1G>C;ENST00000582513:exon12:c.1596+1G>C)	.	.	0.999986741007567	0.922
18	29477748	C	T	18	31897785	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1596+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1596+1G>A;ENST00000580104:exon13:c.1596+1G>A;ENST00000582539:exon12:c.1434+1G>A;ENST00000582513:exon12:c.1596+1G>A)	.	.	0.999986741007567	0.922
18	29477749	C	A	18	31897786	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.G1596T:p.E532D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.G1434T:p.E478D;ENSG00000153339:ENST00000580104:exon12:c.G1596T:p.E532D;ENSG00000153339:ENST00000582513:exon11:c.G1596T:p.E532D;ENSG00000153339:ENST00000283351:exon11:c.G1596T:p.E532D;	0.999992617992245	0.994
18	29477749	C	G	18	31897786	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.G1596C:p.E532D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.G1434C:p.E478D;ENSG00000153339:ENST00000580104:exon12:c.G1596C:p.E532D;ENSG00000153339:ENST00000582513:exon11:c.G1596C:p.E532D;ENSG00000153339:ENST00000283351:exon11:c.G1596C:p.E532D;	0.999996629515665	0.992
18	29477749	C	T	18	31897786	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon11:c.G1596A:p.E532E;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.G1434A:p.E478E;ENSG00000153339:ENST00000580104:exon12:c.G1596A:p.E532E;ENSG00000153339:ENST00000582513:exon11:c.G1596A:p.E532E;ENSG00000153339:ENST00000283351:exon11:c.G1596A:p.E532E;	0.999987542603647	0.988
18	29477750	T	A	18	31897787	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.A1595T:p.E532V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.A1433T:p.E478V;ENSG00000153339:ENST00000580104:exon12:c.A1595T:p.E532V;ENSG00000153339:ENST00000582513:exon11:c.A1595T:p.E532V;ENSG00000153339:ENST00000283351:exon11:c.A1595T:p.E532V;	0.999713593806507	0.996
18	29477750	T	C	18	31897787	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.A1595G:p.E532G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.A1433G:p.E478G;ENSG00000153339:ENST00000580104:exon12:c.A1595G:p.E532G;ENSG00000153339:ENST00000582513:exon11:c.A1595G:p.E532G;ENSG00000153339:ENST00000283351:exon11:c.A1595G:p.E532G;	0.999877937156416	0.996
18	29477750	T	G	18	31897787	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.A1595C:p.E532A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.A1433C:p.E478A;ENSG00000153339:ENST00000580104:exon12:c.A1595C:p.E532A;ENSG00000153339:ENST00000582513:exon11:c.A1595C:p.E532A;ENSG00000153339:ENST00000283351:exon11:c.A1595C:p.E532A;	0.999593901013105	0.992
18	29477751	C	A	18	31897788	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon11:c.G1594T:p.E532X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon11:c.G1432T:p.E478X;ENSG00000153339:ENST00000580104:exon12:c.G1594T:p.E532X;ENSG00000153339:ENST00000582513:exon11:c.G1594T:p.E532X;ENSG00000153339:ENST00000283351:exon11:c.G1594T:p.E532X;	0.939925159295763	0.676
18	29477751	C	G	18	31897788	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.G1594C:p.E532Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.G1432C:p.E478Q;ENSG00000153339:ENST00000580104:exon12:c.G1594C:p.E532Q;ENSG00000153339:ENST00000582513:exon11:c.G1594C:p.E532Q;ENSG00000153339:ENST00000283351:exon11:c.G1594C:p.E532Q;	0.763402864684084	0.442
18	29477751	C	T	18	31897788	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.G1594A:p.E532K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.G1432A:p.E478K;ENSG00000153339:ENST00000580104:exon12:c.G1594A:p.E532K;ENSG00000153339:ENST00000582513:exon11:c.G1594A:p.E532K;ENSG00000153339:ENST00000283351:exon11:c.G1594A:p.E532K;	0.758699547547366	0.59
18	29477853	T	A	18	31897890	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.A1492T:p.N498Y;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.A1330T:p.N444Y;ENSG00000153339:ENST00000580104:exon12:c.A1492T:p.N498Y;ENSG00000153339:ENST00000582513:exon11:c.A1492T:p.N498Y;ENSG00000153339:ENST00000283351:exon11:c.A1492T:p.N498Y;	0.00874336411276424	0.08
18	29477853	T	C	18	31897890	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.A1492G:p.N498D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.A1330G:p.N444D;ENSG00000153339:ENST00000580104:exon12:c.A1492G:p.N498D;ENSG00000153339:ENST00000582513:exon11:c.A1492G:p.N498D;ENSG00000153339:ENST00000283351:exon11:c.A1492G:p.N498D;	0.160832159731234	0.276
18	29477853	T	G	18	31897890	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.A1492C:p.N498H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.A1330C:p.N444H;ENSG00000153339:ENST00000580104:exon12:c.A1492C:p.N498H;ENSG00000153339:ENST00000582513:exon11:c.A1492C:p.N498H;ENSG00000153339:ENST00000283351:exon11:c.A1492C:p.N498H;	0.0541326430236873	0.128
18	29477854	C	A	18	31897891	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.G1491T:p.K497N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.G1329T:p.K443N;ENSG00000153339:ENST00000580104:exon12:c.G1491T:p.K497N;ENSG00000153339:ENST00000582513:exon11:c.G1491T:p.K497N;ENSG00000153339:ENST00000283351:exon11:c.G1491T:p.K497N;	0.421783265421577	0.458
18	29477854	C	G	18	31897891	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon11:c.G1491C:p.K497N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.G1329C:p.K443N;ENSG00000153339:ENST00000580104:exon12:c.G1491C:p.K497N;ENSG00000153339:ENST00000582513:exon11:c.G1491C:p.K497N;ENSG00000153339:ENST00000283351:exon11:c.G1491C:p.K497N;	0.00980374352307419	0.242
18	29477854	C	T	18	31897891	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon11:c.G1491A:p.K497K;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon11:c.G1329A:p.K443K;ENSG00000153339:ENST00000580104:exon12:c.G1491A:p.K497K;ENSG00000153339:ENST00000582513:exon11:c.G1491A:p.K497K;ENSG00000153339:ENST00000283351:exon11:c.G1491A:p.K497K;	0.00167236206348761	0.106
18	29477855	C	A	18	31897892	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1491-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1491-1G>T;ENST00000580104:exon13:c.1491-1G>T;ENST00000582539:exon12:c.1329-1G>T;ENST00000582513:exon12:c.1491-1G>T)	.	.	0.999991790889593	0.924
18	29477855	C	G	18	31897892	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1491-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1491-1G>C;ENST00000580104:exon13:c.1491-1G>C;ENST00000582539:exon12:c.1329-1G>C;ENST00000582513:exon12:c.1491-1G>C)	.	.	0.999991790889593	0.924
18	29477855	C	T	18	31897892	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1491-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1491-1G>A;ENST00000580104:exon13:c.1491-1G>A;ENST00000582539:exon12:c.1329-1G>A;ENST00000582513:exon12:c.1491-1G>A)	.	.	0.999991790889593	0.924
18	29477856	T	A	18	31897893	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1491-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1491-2A>T;ENST00000580104:exon13:c.1491-2A>T;ENST00000582539:exon12:c.1329-2A>T;ENST00000582513:exon12:c.1491-2A>T)	.	.	0.999980378146777	0.9
18	29477856	T	C	18	31897893	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1491-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1491-2A>G;ENST00000580104:exon13:c.1491-2A>G;ENST00000582539:exon12:c.1329-2A>G;ENST00000582513:exon12:c.1491-2A>G)	.	.	0.999949366401994	0.902
18	29477856	T	G	18	31897893	y	y	splicing	TRAPPC8(NM_014939:exon12:c.1491-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon12:c.1491-2A>C;ENST00000580104:exon13:c.1491-2A>C;ENST00000582539:exon12:c.1329-2A>C;ENST00000582513:exon12:c.1491-2A>C)	.	.	0.999949366401994	0.902
18	29477857	A	C	18	31897894	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.710194437105111	0.476
18	29477857	A	G	18	31897894	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.62684387763744E-5	0.004
18	29477857	A	T	18	31897894	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.85618187091571E-4	0.068
18	29477858	T	A	18	31897895	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.56842232256283E-5	0.0
18	29477858	T	C	18	31897895	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.33141600191487E-5	0.0
18	29477858	T	G	18	31897895	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.54383358341642E-5	0.0
18	29477859	A	C	18	31897896	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0095641716281832	0.388
18	29477859	A	G	18	31897896	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00182895511249157	0.074
18	29477859	A	T	18	31897896	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00671076003905329	0.372
18	29477860	G	A	18	31897897	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.81588312705537E-5	0.0
18	29477860	G	C	18	31897897	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.37335339011895E-4	0.05
18	29477860	G	T	18	31897897	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.67016252311869E-4	0.014
18	29477861	A	C	18	31897898	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.66629076368194E-5	0.012
18	29477861	A	G	18	31897898	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.17111157239862E-5	0.002
18	29477861	A	T	18	31897898	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.10165140104181E-5	0.016
18	29477862	A	C	18	31897899	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.67583513873897E-4	0.048
18	29477862	A	G	18	31897899	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.89213760736616E-4	0.006
18	29477862	A	T	18	31897899	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.24081148903476E-4	0.048
18	29477863	A	C	18	31897900	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00638352917122063	0.274
18	29477863	A	G	18	31897900	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0025820444425341	0.038
18	29477863	A	T	18	31897900	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00394048156431007	0.248
18	29477864	A	C	18	31897901	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.9815164320098E-4	0.104
18	29477864	A	G	18	31897901	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.86789322118564E-5	0.024
18	29477864	A	T	18	31897901	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.42915413641111E-4	0.092
18	29477865	A	C	18	31897902	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00173554540911239	0.27
18	29477865	A	G	18	31897902	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00161763736865394	0.078
18	29477865	A	T	18	31897902	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0029142006175604	0.232
18	29477866	A	C	18	31897903	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.79305593742548E-5	0.036
18	29477866	A	G	18	31897903	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.3977072597324E-5	0.0
18	29477866	A	T	18	31897903	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.85940579738194E-5	0.026
18	29480880	T	A	18	31900917	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.07491089284313E-4	0.072
18	29480880	T	C	18	31900917	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.0930221730423E-4	0.012
18	29480880	T	G	18	31900917	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.07491089284313E-4	0.01
18	29480881	C	A	18	31900918	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0152939169026495	0.064
18	29480881	C	G	18	31900918	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0161726261527627	0.054
18	29480881	C	T	18	31900918	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0195055221983722	0.076
18	29480882	A	C	18	31900919	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998023775096329	0.924
18	29480882	A	G	18	31900919	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.986658264084261	0.862
18	29480882	A	T	18	31900919	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.993980440902881	0.766
18	29480883	C	A	18	31900920	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999962270326063	0.974
18	29480883	C	G	18	31900920	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999962618197005	1.0
18	29480883	C	T	18	31900920	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999970912387027	1.0
18	29480884	C	A	18	31900921	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.002865665572414	0.142
18	29480884	C	G	18	31900921	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.004668270471728	0.284
18	29480884	C	T	18	31900921	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.11074879453187E-4	0.094
18	29480885	T	A	18	31900922	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999537386048449	0.994
18	29480885	T	C	18	31900922	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999211820490131	0.986
18	29480885	T	G	18	31900922	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999897421101965	0.978
18	29480886	A	C	18	31900923	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1490+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1490+2T>G;ENST00000580104:exon12:c.1490+2T>G;ENST00000582539:exon11:c.1328+2T>G;ENST00000582513:exon11:c.1490+2T>G)	.	.	0.999990764389106	0.942
18	29480886	A	G	18	31900923	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1490+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1490+2T>C;ENST00000580104:exon12:c.1490+2T>C;ENST00000582539:exon11:c.1328+2T>C;ENST00000582513:exon11:c.1490+2T>C)	.	.	0.995805971503043	0.726
18	29480886	A	T	18	31900923	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1490+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1490+2T>A;ENST00000580104:exon12:c.1490+2T>A;ENST00000582539:exon11:c.1328+2T>A;ENST00000582513:exon11:c.1490+2T>A)	.	.	0.999990764389106	0.942
18	29480887	C	A	18	31900924	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1490+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1490+1G>T;ENST00000580104:exon12:c.1490+1G>T;ENST00000582539:exon11:c.1328+1G>T;ENST00000582513:exon11:c.1490+1G>T)	.	.	0.999992425382947	0.94
18	29480887	C	G	18	31900924	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1490+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1490+1G>C;ENST00000580104:exon12:c.1490+1G>C;ENST00000582539:exon11:c.1328+1G>C;ENST00000582513:exon11:c.1490+1G>C)	.	.	0.999992425382947	0.94
18	29480887	C	T	18	31900924	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1490+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1490+1G>A;ENST00000580104:exon12:c.1490+1G>A;ENST00000582539:exon11:c.1328+1G>A;ENST00000582513:exon11:c.1490+1G>A)	.	.	0.999992425382947	0.94
18	29480888	T	A	18	31900925	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.A1490T:p.K497M;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.A1328T:p.K443M;ENSG00000153339:ENST00000580104:exon11:c.A1490T:p.K497M;ENSG00000153339:ENST00000582513:exon10:c.A1490T:p.K497M;ENSG00000153339:ENST00000283351:exon10:c.A1490T:p.K497M;	0.146495546843055	0.236
18	29480888	T	C	18	31900925	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.A1490G:p.K497R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.A1328G:p.K443R;ENSG00000153339:ENST00000580104:exon11:c.A1490G:p.K497R;ENSG00000153339:ENST00000582513:exon10:c.A1490G:p.K497R;ENSG00000153339:ENST00000283351:exon10:c.A1490G:p.K497R;	0.00991675422408755	0.082
18	29480888	T	G	18	31900925	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.A1490C:p.K497T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.A1328C:p.K443T;ENSG00000153339:ENST00000580104:exon11:c.A1490C:p.K497T;ENSG00000153339:ENST00000582513:exon10:c.A1490C:p.K497T;ENSG00000153339:ENST00000283351:exon10:c.A1490C:p.K497T;	0.0227935333585039	0.136
18	29480889	T	A	18	31900926	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon10:c.A1489T:p.K497X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon10:c.A1327T:p.K443X;ENSG00000153339:ENST00000580104:exon11:c.A1489T:p.K497X;ENSG00000153339:ENST00000582513:exon10:c.A1489T:p.K497X;ENSG00000153339:ENST00000283351:exon10:c.A1489T:p.K497X;	0.999967619857796	0.992
18	29480889	T	C	18	31900926	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.A1489G:p.K497E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.A1327G:p.K443E;ENSG00000153339:ENST00000580104:exon11:c.A1489G:p.K497E;ENSG00000153339:ENST00000582513:exon10:c.A1489G:p.K497E;ENSG00000153339:ENST00000283351:exon10:c.A1489G:p.K497E;	0.999793375761371	0.984
18	29480889	T	G	18	31900926	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.A1489C:p.K497Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.A1327C:p.K443Q;ENSG00000153339:ENST00000580104:exon11:c.A1489C:p.K497Q;ENSG00000153339:ENST00000582513:exon10:c.A1489C:p.K497Q;ENSG00000153339:ENST00000283351:exon10:c.A1489C:p.K497Q;	0.999574944718559	0.99
18	29480890	G	A	18	31900927	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon10:c.C1488T:p.C496C;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.C1326T:p.C442C;ENSG00000153339:ENST00000580104:exon11:c.C1488T:p.C496C;ENSG00000153339:ENST00000582513:exon10:c.C1488T:p.C496C;ENSG00000153339:ENST00000283351:exon10:c.C1488T:p.C496C;	0.999579532238109	0.956
18	29480890	G	C	18	31900927	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.C1488G:p.C496W;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.C1326G:p.C442W;ENSG00000153339:ENST00000580104:exon11:c.C1488G:p.C496W;ENSG00000153339:ENST00000582513:exon10:c.C1488G:p.C496W;ENSG00000153339:ENST00000283351:exon10:c.C1488G:p.C496W;	0.400822187965061	0.432
18	29480890	G	T	18	31900927	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon10:c.C1488A:p.C496X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon10:c.C1326A:p.C442X;ENSG00000153339:ENST00000580104:exon11:c.C1488A:p.C496X;ENSG00000153339:ENST00000582513:exon10:c.C1488A:p.C496X;ENSG00000153339:ENST00000283351:exon10:c.C1488A:p.C496X;	0.967967985145733	0.832
18	29480987	T	A	18	31901024	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.A1391T:p.E464V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.A1229T:p.E410V;ENSG00000153339:ENST00000580104:exon11:c.A1391T:p.E464V;ENSG00000153339:ENST00000582513:exon10:c.A1391T:p.E464V;ENSG00000153339:ENST00000283351:exon10:c.A1391T:p.E464V;	0.091319430412835	0.486
18	29480987	T	C	18	31901024	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.A1391G:p.E464G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.A1229G:p.E410G;ENSG00000153339:ENST00000580104:exon11:c.A1391G:p.E464G;ENSG00000153339:ENST00000582513:exon10:c.A1391G:p.E464G;ENSG00000153339:ENST00000283351:exon10:c.A1391G:p.E464G;	0.327158187858756	0.334
18	29480987	T	G	18	31901024	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.A1391C:p.E464A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.A1229C:p.E410A;ENSG00000153339:ENST00000580104:exon11:c.A1391C:p.E464A;ENSG00000153339:ENST00000582513:exon10:c.A1391C:p.E464A;ENSG00000153339:ENST00000283351:exon10:c.A1391C:p.E464A;	0.219706304584592	0.46
18	29480988	C	A	18	31901025	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon10:c.G1390T:p.E464X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon10:c.G1228T:p.E410X;ENSG00000153339:ENST00000580104:exon11:c.G1390T:p.E464X;ENSG00000153339:ENST00000582513:exon10:c.G1390T:p.E464X;ENSG00000153339:ENST00000283351:exon10:c.G1390T:p.E464X;	0.999877443858095	0.99
18	29480988	C	G	18	31901025	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.G1390C:p.E464Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.G1228C:p.E410Q;ENSG00000153339:ENST00000580104:exon11:c.G1390C:p.E464Q;ENSG00000153339:ENST00000582513:exon10:c.G1390C:p.E464Q;ENSG00000153339:ENST00000283351:exon10:c.G1390C:p.E464Q;	0.998455553220799	0.938
18	29480988	C	T	18	31901025	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon10:c.G1390A:p.E464K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon10:c.G1228A:p.E410K;ENSG00000153339:ENST00000580104:exon11:c.G1390A:p.E464K;ENSG00000153339:ENST00000582513:exon10:c.G1390A:p.E464K;ENSG00000153339:ENST00000283351:exon10:c.G1390A:p.E464K;	0.99962075815561	0.898
18	29480989	C	A	18	31901026	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1390-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1390-1G>T;ENST00000580104:exon12:c.1390-1G>T;ENST00000582539:exon11:c.1228-1G>T;ENST00000582513:exon11:c.1390-1G>T)	.	.	0.999990361384395	0.938
18	29480989	C	G	18	31901026	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1390-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1390-1G>C;ENST00000580104:exon12:c.1390-1G>C;ENST00000582539:exon11:c.1228-1G>C;ENST00000582513:exon11:c.1390-1G>C)	.	.	0.999990361384395	0.938
18	29480989	C	T	18	31901026	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1390-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1390-1G>A;ENST00000580104:exon12:c.1390-1G>A;ENST00000582539:exon11:c.1228-1G>A;ENST00000582513:exon11:c.1390-1G>A)	.	.	0.999990361384395	0.938
18	29480990	T	A	18	31901027	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1390-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1390-2A>T;ENST00000580104:exon12:c.1390-2A>T;ENST00000582539:exon11:c.1228-2A>T;ENST00000582513:exon11:c.1390-2A>T)	.	.	0.999988247793601	0.932
18	29480990	T	C	18	31901027	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1390-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1390-2A>G;ENST00000580104:exon12:c.1390-2A>G;ENST00000582539:exon11:c.1228-2A>G;ENST00000582513:exon11:c.1390-2A>G)	.	.	0.999988247793601	0.93
18	29480990	T	G	18	31901027	y	y	splicing	TRAPPC8(NM_014939:exon11:c.1390-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon11:c.1390-2A>C;ENST00000580104:exon12:c.1390-2A>C;ENST00000582539:exon11:c.1228-2A>C;ENST00000582513:exon11:c.1390-2A>C)	.	.	0.999988247793601	0.93
18	29480991	A	C	18	31901028	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.407829060500129	0.548
18	29480991	A	G	18	31901028	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.94317990558343E-5	0.0
18	29480991	A	T	18	31901028	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00561320901316692	0.242
18	29480992	A	C	18	31901029	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.88844521413648E-5	0.004
18	29480992	A	G	18	31901029	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.21450452398665E-5	0.0
18	29480992	A	T	18	31901029	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.77456804837767E-5	0.002
18	29480993	A	C	18	31901030	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.127331228059468	0.356
18	29480993	A	G	18	31901030	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.34692929513296E-4	0.04
18	29480993	A	T	18	31901030	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0526795604342606	0.294
18	29480994	A	C	18	31901031	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.996428783535945	0.948
18	29480994	A	G	18	31901031	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.01962369303426E-5	0.0
18	29480994	A	T	18	31901031	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00484099162554671	0.104
18	29480995	T	A	18	31901032	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.26848964498332E-5	0.0
18	29480995	T	C	18	31901032	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.47348756796826E-5	0.0
18	29480995	T	G	18	31901032	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.43414273404084E-5	0.0
18	29480996	A	C	18	31901033	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.28551076337553E-4	0.318
18	29480996	A	G	18	31901033	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.22978445290379E-5	0.0
18	29480996	A	T	18	31901033	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0115596529876115	0.27
18	29480997	A	C	18	31901034	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00736133980017997	0.264
18	29480997	A	G	18	31901034	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.82531137500452E-5	0.006
18	29480997	A	T	18	31901034	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00635340544261991	0.232
18	29480998	A	C	18	31901035	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0509207617611163	0.288
18	29480998	A	G	18	31901035	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.34190268266168E-4	0.0
18	29480998	A	T	18	31901035	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0300711904605319	0.244
18	29480999	A	C	18	31901036	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.091127406521092	0.474
18	29480999	A	G	18	31901036	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0164651768299253	0.208
18	29480999	A	T	18	31901036	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.239976685833517	0.54
18	29481000	G	A	18	31901037	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.41680827537807E-5	0.002
18	29481000	G	C	18	31901037	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.51130468375894E-4	0.034
18	29481000	G	T	18	31901037	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.31424360459101E-4	0.022
18	29487415	A	C	18	31907452	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00145479838173568	0.01
18	29487415	A	G	18	31907452	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00104429093384969	0.15
18	29487415	A	T	18	31907452	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.17275165247573E-4	0.052
18	29487416	T	A	18	31907453	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.51921410196465E-4	0.042
18	29487416	T	C	18	31907453	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.71036582669461E-4	0.034
18	29487416	T	G	18	31907453	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.36151845016775E-4	0.064
18	29487417	A	C	18	31907454	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.986417950338033	0.676
18	29487417	A	G	18	31907454	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.988133346825931	0.74
18	29487417	A	T	18	31907454	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.976045033703358	0.642
18	29487418	C	A	18	31907455	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999755278074638	0.908
18	29487418	C	G	18	31907455	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999755278074638	0.93
18	29487418	C	T	18	31907455	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999755664844869	0.926
18	29487419	C	A	18	31907456	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.01227120014199E-4	0.098
18	29487419	C	G	18	31907456	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00238643651666929	0.322
18	29487419	C	T	18	31907456	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.7344992333821E-4	0.072
18	29487420	A	C	18	31907457	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00193610882364721	0.108
18	29487420	A	G	18	31907457	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00849159255213947	0.162
18	29487420	A	T	18	31907457	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.98365278105919E-4	0.07
18	29487421	A	C	18	31907458	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1389+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1389+2T>G;ENST00000580104:exon11:c.1389+2T>G;ENST00000582539:exon10:c.1227+2T>G;ENST00000582513:exon10:c.1389+2T>G)	.	.	0.999908539125455	0.89
18	29487421	A	G	18	31907458	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1389+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1389+2T>C;ENST00000580104:exon11:c.1389+2T>C;ENST00000582539:exon10:c.1227+2T>C;ENST00000582513:exon10:c.1389+2T>C)	.	.	0.999101451006335	0.81
18	29487421	A	T	18	31907458	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1389+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1389+2T>A;ENST00000580104:exon11:c.1389+2T>A;ENST00000582539:exon10:c.1227+2T>A;ENST00000582513:exon10:c.1389+2T>A)	.	.	0.999908539125455	0.89
18	29487422	C	A	18	31907459	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1389+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1389+1G>T;ENST00000580104:exon11:c.1389+1G>T;ENST00000582539:exon10:c.1227+1G>T;ENST00000582513:exon10:c.1389+1G>T)	.	.	0.999964469209436	0.888
18	29487422	C	G	18	31907459	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1389+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1389+1G>C;ENST00000580104:exon11:c.1389+1G>C;ENST00000582539:exon10:c.1227+1G>C;ENST00000582513:exon10:c.1389+1G>C)	.	.	0.999964469209436	0.888
18	29487422	C	T	18	31907459	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1389+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1389+1G>A;ENST00000580104:exon11:c.1389+1G>A;ENST00000582539:exon10:c.1227+1G>A;ENST00000582513:exon10:c.1389+1G>A)	.	.	0.999964469209436	0.888
18	29487423	C	A	18	31907460	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.G1389T:p.L463F;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.G1227T:p.L409F;ENSG00000153339:ENST00000580104:exon10:c.G1389T:p.L463F;ENSG00000153339:ENST00000582513:exon9:c.G1389T:p.L463F;ENSG00000153339:ENST00000283351:exon9:c.G1389T:p.L463F;	0.999919117824139	0.92
18	29487423	C	G	18	31907460	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.G1389C:p.L463F;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.G1227C:p.L409F;ENSG00000153339:ENST00000580104:exon10:c.G1389C:p.L463F;ENSG00000153339:ENST00000582513:exon9:c.G1389C:p.L463F;ENSG00000153339:ENST00000283351:exon9:c.G1389C:p.L463F;	0.999971364378727	0.932
18	29487423	C	T	18	31907460	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon9:c.G1389A:p.L463L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.G1227A:p.L409L;ENSG00000153339:ENST00000580104:exon10:c.G1389A:p.L463L;ENSG00000153339:ENST00000582513:exon9:c.G1389A:p.L463L;ENSG00000153339:ENST00000283351:exon9:c.G1389A:p.L463L;	0.999979554599635	0.954
18	29487424	A	C	18	31907461	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.T1388G:p.L463W;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.T1226G:p.L409W;ENSG00000153339:ENST00000580104:exon10:c.T1388G:p.L463W;ENSG00000153339:ENST00000582513:exon9:c.T1388G:p.L463W;ENSG00000153339:ENST00000283351:exon9:c.T1388G:p.L463W;	0.571587161702922	0.5
18	29487424	A	G	18	31907461	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.T1388C:p.L463S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.T1226C:p.L409S;ENSG00000153339:ENST00000580104:exon10:c.T1388C:p.L463S;ENSG00000153339:ENST00000582513:exon9:c.T1388C:p.L463S;ENSG00000153339:ENST00000283351:exon9:c.T1388C:p.L463S;	0.132130807508971	0.408
18	29487424	A	T	18	31907461	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon9:c.T1388A:p.L463X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon9:c.T1226A:p.L409X;ENSG00000153339:ENST00000580104:exon10:c.T1388A:p.L463X;ENSG00000153339:ENST00000582513:exon9:c.T1388A:p.L463X;ENSG00000153339:ENST00000283351:exon9:c.T1388A:p.L463X;	0.692632075935131	0.698
18	29487425	A	C	18	31907462	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.T1387G:p.L463V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.T1225G:p.L409V;ENSG00000153339:ENST00000580104:exon10:c.T1387G:p.L463V;ENSG00000153339:ENST00000582513:exon9:c.T1387G:p.L463V;ENSG00000153339:ENST00000283351:exon9:c.T1387G:p.L463V;	8.96972909754962E-5	0.07
18	29487425	A	G	18	31907462	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon9:c.T1387C:p.L463L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.T1225C:p.L409L;ENSG00000153339:ENST00000580104:exon10:c.T1387C:p.L463L;ENSG00000153339:ENST00000582513:exon9:c.T1387C:p.L463L;ENSG00000153339:ENST00000283351:exon9:c.T1387C:p.L463L;	3.97716118365199E-5	0.004
18	29487425	A	T	18	31907462	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.T1387A:p.L463M;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.T1225A:p.L409M;ENSG00000153339:ENST00000580104:exon10:c.T1387A:p.L463M;ENSG00000153339:ENST00000582513:exon9:c.T1387A:p.L463M;ENSG00000153339:ENST00000283351:exon9:c.T1387A:p.L463M;	6.14177835201585E-5	0.004
18	29487572	A	C	18	31907609	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.T1240G:p.Y414D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.T1078G:p.Y360D;ENSG00000153339:ENST00000580104:exon10:c.T1240G:p.Y414D;ENSG00000153339:ENST00000582513:exon9:c.T1240G:p.Y414D;ENSG00000153339:ENST00000283351:exon9:c.T1240G:p.Y414D;	0.0131075370880279	0.094
18	29487572	A	G	18	31907609	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.T1240C:p.Y414H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.T1078C:p.Y360H;ENSG00000153339:ENST00000580104:exon10:c.T1240C:p.Y414H;ENSG00000153339:ENST00000582513:exon9:c.T1240C:p.Y414H;ENSG00000153339:ENST00000283351:exon9:c.T1240C:p.Y414H;	0.0177608127962831	0.166
18	29487572	A	T	18	31907609	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon9:c.T1240A:p.Y414N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.T1078A:p.Y360N;ENSG00000153339:ENST00000580104:exon10:c.T1240A:p.Y414N;ENSG00000153339:ENST00000582513:exon9:c.T1240A:p.Y414N;ENSG00000153339:ENST00000283351:exon9:c.T1240A:p.Y414N;	0.00715605273215452	0.134
18	29487573	C	A	18	31907610	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon9:c.G1239T:p.L413L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.G1077T:p.L359L;ENSG00000153339:ENST00000580104:exon10:c.G1239T:p.L413L;ENSG00000153339:ENST00000582513:exon9:c.G1239T:p.L413L;ENSG00000153339:ENST00000283351:exon9:c.G1239T:p.L413L;	0.0960877680670698	0.354
18	29487573	C	G	18	31907610	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon9:c.G1239C:p.L413L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.G1077C:p.L359L;ENSG00000153339:ENST00000580104:exon10:c.G1239C:p.L413L;ENSG00000153339:ENST00000582513:exon9:c.G1239C:p.L413L;ENSG00000153339:ENST00000283351:exon9:c.G1239C:p.L413L;	0.0022523014772265	0.244
18	29487573	C	T	18	31907610	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon9:c.G1239A:p.L413L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon9:c.G1077A:p.L359L;ENSG00000153339:ENST00000580104:exon10:c.G1239A:p.L413L;ENSG00000153339:ENST00000582513:exon9:c.G1239A:p.L413L;ENSG00000153339:ENST00000283351:exon9:c.G1239A:p.L413L;	5.82524359632892E-4	0.15
18	29487574	C	A	18	31907611	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1239-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1239-1G>T;ENST00000580104:exon11:c.1239-1G>T;ENST00000582539:exon10:c.1077-1G>T;ENST00000582513:exon10:c.1239-1G>T)	.	.	0.999981760802075	0.94
18	29487574	C	G	18	31907611	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1239-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1239-1G>C;ENST00000580104:exon11:c.1239-1G>C;ENST00000582539:exon10:c.1077-1G>C;ENST00000582513:exon10:c.1239-1G>C)	.	.	0.999981760802075	0.94
18	29487574	C	T	18	31907611	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1239-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1239-1G>A;ENST00000580104:exon11:c.1239-1G>A;ENST00000582539:exon10:c.1077-1G>A;ENST00000582513:exon10:c.1239-1G>A)	.	.	0.999981760802075	0.94
18	29487575	T	A	18	31907612	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1239-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1239-2A>T;ENST00000580104:exon11:c.1239-2A>T;ENST00000582539:exon10:c.1077-2A>T;ENST00000582513:exon10:c.1239-2A>T)	.	.	0.999989917668626	0.928
18	29487575	T	C	18	31907612	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1239-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1239-2A>G;ENST00000580104:exon11:c.1239-2A>G;ENST00000582539:exon10:c.1077-2A>G;ENST00000582513:exon10:c.1239-2A>G)	.	.	0.999989917668626	0.928
18	29487575	T	G	18	31907612	y	y	splicing	TRAPPC8(NM_014939:exon10:c.1239-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon10:c.1239-2A>C;ENST00000580104:exon11:c.1239-2A>C;ENST00000582539:exon10:c.1077-2A>C;ENST00000582513:exon10:c.1239-2A>C)	.	.	0.999989917668626	0.928
18	29487576	G	A	18	31907613	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00202666520302612	0.156
18	29487576	G	C	18	31907613	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999851819106472	0.842
18	29487576	G	T	18	31907613	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.051999959415942	0.27
18	29487577	T	A	18	31907614	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.51462140088564E-5	0.0
18	29487577	T	C	18	31907614	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.33141600191487E-5	0.0
18	29487577	T	G	18	31907614	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.30882971891617E-5	0.0
18	29487578	A	C	18	31907615	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0554410532123011	0.286
18	29487578	A	G	18	31907615	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.69741492109406E-4	0.016
18	29487578	A	T	18	31907615	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.105660855949096	0.322
18	29487579	A	C	18	31907616	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00748904436025577	0.296
18	29487579	A	G	18	31907616	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.58360382381007E-5	0.03
18	29487579	A	T	18	31907616	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00394001612539046	0.254
18	29487580	A	C	18	31907617	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998052844631807	0.936
18	29487580	A	G	18	31907617	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.77748307150603E-4	0.008
18	29487580	A	T	18	31907617	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0198520553967638	0.438
18	29487581	T	A	18	31907618	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.35658803300149E-5	0.002
18	29487581	T	C	18	31907618	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.303802814453E-4	0.006
18	29487581	T	G	18	31907618	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.56112587881559E-5	0.012
18	29487582	A	C	18	31907619	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.983209373325623	0.778
18	29487582	A	G	18	31907619	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0588468441289693	0.386
18	29487582	A	T	18	31907619	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.971617176516886	0.668
18	29487583	C	A	18	31907620	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.51693131244562E-5	0.0
18	29487583	C	G	18	31907620	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.36682360194992E-5	0.012
18	29487583	C	T	18	31907620	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.66289647759182E-4	0.002
18	29487584	A	C	18	31907621	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.988592334891308	0.738
18	29487584	A	G	18	31907621	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.809351745557245	0.298
18	29487584	A	T	18	31907621	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99993982268923	0.906
18	29487585	A	C	18	31907622	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00173259900260139	0.244
18	29487585	A	G	18	31907622	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.58349461579513E-4	0.008
18	29487585	A	T	18	31907622	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00717407908902765	0.26
18	29488258	T	A	18	31908295	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.50285223049616E-4	0.214
18	29488258	T	C	18	31908295	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.76201994219096E-4	0.006
18	29488258	T	G	18	31908295	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.50285223049616E-4	0.2
18	29488259	T	A	18	31908296	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.92300928710445E-4	0.016
18	29488259	T	C	18	31908296	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.07606678325648E-4	0.024
18	29488259	T	G	18	31908296	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.51832356410825E-4	0.104
18	29488260	A	C	18	31908297	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.928817116404291	0.718
18	29488260	A	G	18	31908297	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.697427899535018	0.72
18	29488260	A	T	18	31908297	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.997424416549037	0.718
18	29488261	C	A	18	31908298	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999976042004957	0.956
18	29488261	C	G	18	31908298	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999982812349636	0.988
18	29488261	C	T	18	31908298	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999981529692246	0.982
18	29488262	T	A	18	31908299	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999908167064286	0.922
18	29488262	T	C	18	31908299	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999895890630128	0.95
18	29488262	T	G	18	31908299	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999899082881806	0.922
18	29488263	C	A	18	31908300	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998506554135227	0.826
18	29488263	C	G	18	31908300	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998566131977343	0.826
18	29488263	C	T	18	31908300	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.14063106900863E-4	0.05
18	29488264	A	C	18	31908301	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1238+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1238+2T>G;ENST00000580104:exon10:c.1238+2T>G;ENST00000582539:exon9:c.1076+2T>G;ENST00000582513:exon9:c.1238+2T>G)	.	.	0.999992007541056	0.936
18	29488264	A	G	18	31908301	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1238+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1238+2T>C;ENST00000580104:exon10:c.1238+2T>C;ENST00000582539:exon9:c.1076+2T>C;ENST00000582513:exon9:c.1238+2T>C)	.	.	0.999909269437711	0.888
18	29488264	A	T	18	31908301	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1238+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1238+2T>A;ENST00000580104:exon10:c.1238+2T>A;ENST00000582539:exon9:c.1076+2T>A;ENST00000582513:exon9:c.1238+2T>A)	.	.	0.999992007541056	0.936
18	29488265	C	A	18	31908302	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1238+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1238+1G>T;ENST00000580104:exon10:c.1238+1G>T;ENST00000582539:exon9:c.1076+1G>T;ENST00000582513:exon9:c.1238+1G>T)	.	.	0.999993444959628	0.934
18	29488265	C	G	18	31908302	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1238+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1238+1G>C;ENST00000580104:exon10:c.1238+1G>C;ENST00000582539:exon9:c.1076+1G>C;ENST00000582513:exon9:c.1238+1G>C)	.	.	0.999993444959628	0.934
18	29488265	C	T	18	31908302	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1238+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1238+1G>A;ENST00000580104:exon10:c.1238+1G>A;ENST00000582539:exon9:c.1076+1G>A;ENST00000582513:exon9:c.1238+1G>A)	.	.	0.999993444959628	0.934
18	29488266	A	C	18	31908303	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.T1238G:p.L413R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.T1076G:p.L359R;ENSG00000153339:ENST00000580104:exon9:c.T1238G:p.L413R;ENSG00000153339:ENST00000582513:exon8:c.T1238G:p.L413R;ENSG00000153339:ENST00000283351:exon8:c.T1238G:p.L413R;	0.0134523159890573	0.168
18	29488266	A	G	18	31908303	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.T1238C:p.L413P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.T1076C:p.L359P;ENSG00000153339:ENST00000580104:exon9:c.T1238C:p.L413P;ENSG00000153339:ENST00000582513:exon8:c.T1238C:p.L413P;ENSG00000153339:ENST00000283351:exon8:c.T1238C:p.L413P;	0.474806394009663	0.58
18	29488266	A	T	18	31908303	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.T1238A:p.L413Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.T1076A:p.L359Q;ENSG00000153339:ENST00000580104:exon9:c.T1238A:p.L413Q;ENSG00000153339:ENST00000582513:exon8:c.T1238A:p.L413Q;ENSG00000153339:ENST00000283351:exon8:c.T1238A:p.L413Q;	0.188510034845482	0.406
18	29488267	G	A	18	31908304	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon8:c.C1237T:p.L413L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.C1075T:p.L359L;ENSG00000153339:ENST00000580104:exon9:c.C1237T:p.L413L;ENSG00000153339:ENST00000582513:exon8:c.C1237T:p.L413L;ENSG00000153339:ENST00000283351:exon8:c.C1237T:p.L413L;	0.00161414438167847	0.126
18	29488267	G	C	18	31908304	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.C1237G:p.L413V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.C1075G:p.L359V;ENSG00000153339:ENST00000580104:exon9:c.C1237G:p.L413V;ENSG00000153339:ENST00000582513:exon8:c.C1237G:p.L413V;ENSG00000153339:ENST00000283351:exon8:c.C1237G:p.L413V;	0.00154702484473172	0.25
18	29488267	G	T	18	31908304	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.C1237A:p.L413M;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.C1075A:p.L359M;ENSG00000153339:ENST00000580104:exon9:c.C1237A:p.L413M;ENSG00000153339:ENST00000582513:exon8:c.C1237A:p.L413M;ENSG00000153339:ENST00000283351:exon8:c.C1237A:p.L413M;	7.22160048424632E-4	0.198
18	29488268	C	A	18	31908305	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.G1236T:p.L412F;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.G1074T:p.L358F;ENSG00000153339:ENST00000580104:exon9:c.G1236T:p.L412F;ENSG00000153339:ENST00000582513:exon8:c.G1236T:p.L412F;ENSG00000153339:ENST00000283351:exon8:c.G1236T:p.L412F;	0.00247748818820306	0.186
18	29488268	C	G	18	31908305	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.G1236C:p.L412F;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.G1074C:p.L358F;ENSG00000153339:ENST00000580104:exon9:c.G1236C:p.L412F;ENSG00000153339:ENST00000582513:exon8:c.G1236C:p.L412F;ENSG00000153339:ENST00000283351:exon8:c.G1236C:p.L412F;	3.08929701943689E-4	0.044
18	29488268	C	T	18	31908305	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon8:c.G1236A:p.L412L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.G1074A:p.L358L;ENSG00000153339:ENST00000580104:exon9:c.G1236A:p.L412L;ENSG00000153339:ENST00000582513:exon8:c.G1236A:p.L412L;ENSG00000153339:ENST00000283351:exon8:c.G1236A:p.L412L;	1.50144043869897E-4	0.03
18	29488380	A	C	18	31908417	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.T1124G:p.L375R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.T962G:p.L321R;ENSG00000153339:ENST00000580104:exon9:c.T1124G:p.L375R;ENSG00000153339:ENST00000582513:exon8:c.T1124G:p.L375R;ENSG00000153339:ENST00000283351:exon8:c.T1124G:p.L375R;	0.018214175412348	0.09
18	29488380	A	G	18	31908417	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.T1124C:p.L375P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.T962C:p.L321P;ENSG00000153339:ENST00000580104:exon9:c.T1124C:p.L375P;ENSG00000153339:ENST00000582513:exon8:c.T1124C:p.L375P;ENSG00000153339:ENST00000283351:exon8:c.T1124C:p.L375P;	0.00390550499246969	0.14
18	29488380	A	T	18	31908417	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.T1124A:p.L375Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.T962A:p.L321Q;ENSG00000153339:ENST00000580104:exon9:c.T1124A:p.L375Q;ENSG00000153339:ENST00000582513:exon8:c.T1124A:p.L375Q;ENSG00000153339:ENST00000283351:exon8:c.T1124A:p.L375Q;	0.00590091846792778	0.162
18	29488381	G	A	18	31908418	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon8:c.C1123T:p.L375L;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.C961T:p.L321L;ENSG00000153339:ENST00000580104:exon9:c.C1123T:p.L375L;ENSG00000153339:ENST00000582513:exon8:c.C1123T:p.L375L;ENSG00000153339:ENST00000283351:exon8:c.C1123T:p.L375L;	0.00129423505250675	0.104
18	29488381	G	C	18	31908418	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.C1123G:p.L375V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.C961G:p.L321V;ENSG00000153339:ENST00000580104:exon9:c.C1123G:p.L375V;ENSG00000153339:ENST00000582513:exon8:c.C1123G:p.L375V;ENSG00000153339:ENST00000283351:exon8:c.C1123G:p.L375V;	6.00476210301336E-4	0.234
18	29488381	G	T	18	31908418	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon8:c.C1123A:p.L375I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon8:c.C961A:p.L321I;ENSG00000153339:ENST00000580104:exon9:c.C1123A:p.L375I;ENSG00000153339:ENST00000582513:exon8:c.C1123A:p.L375I;ENSG00000153339:ENST00000283351:exon8:c.C1123A:p.L375I;	7.18599500637586E-5	0.004
18	29488382	C	A	18	31908419	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1123-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1123-1G>T;ENST00000580104:exon10:c.1123-1G>T;ENST00000582539:exon9:c.961-1G>T;ENST00000582513:exon9:c.1123-1G>T)	.	.	0.999974348013066	0.946
18	29488382	C	G	18	31908419	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1123-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1123-1G>C;ENST00000580104:exon10:c.1123-1G>C;ENST00000582539:exon9:c.961-1G>C;ENST00000582513:exon9:c.1123-1G>C)	.	.	0.999974348013066	0.946
18	29488382	C	T	18	31908419	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1123-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1123-1G>A;ENST00000580104:exon10:c.1123-1G>A;ENST00000582539:exon9:c.961-1G>A;ENST00000582513:exon9:c.1123-1G>A)	.	.	0.999974348013066	0.946
18	29488383	T	A	18	31908420	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1123-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1123-2A>T;ENST00000580104:exon10:c.1123-2A>T;ENST00000582539:exon9:c.961-2A>T;ENST00000582513:exon9:c.1123-2A>T)	.	.	0.999971451041086	0.954
18	29488383	T	C	18	31908420	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1123-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1123-2A>G;ENST00000580104:exon10:c.1123-2A>G;ENST00000582539:exon9:c.961-2A>G;ENST00000582513:exon9:c.1123-2A>G)	.	.	0.999977459371092	0.916
18	29488383	T	G	18	31908420	y	y	splicing	TRAPPC8(NM_014939:exon9:c.1123-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon9:c.1123-2A>C;ENST00000580104:exon10:c.1123-2A>C;ENST00000582539:exon9:c.961-2A>C;ENST00000582513:exon9:c.1123-2A>C)	.	.	0.999977459371092	0.916
18	29488384	T	A	18	31908421	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.38042018384088E-6	0.0
18	29488384	T	C	18	31908421	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.153251498978005	0.486
18	29488384	T	G	18	31908421	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.26673435381463E-6	0.02
18	29488385	T	A	18	31908422	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.9171721461825E-5	0.0
18	29488385	T	C	18	31908422	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.98172453193669E-5	0.0
18	29488385	T	G	18	31908422	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.90437643108773E-5	0.008
18	29488386	A	C	18	31908423	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0721430397417769	0.392
18	29488386	A	G	18	31908423	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.98421390121137E-4	0.1
18	29488386	A	T	18	31908423	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00734571078416763	0.264
18	29488387	A	C	18	31908424	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00815488487108828	0.258
18	29488387	A	G	18	31908424	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.94929035277661E-4	0.006
18	29488387	A	T	18	31908424	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0102335140422131	0.218
18	29488388	A	C	18	31908425	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.48015542697889E-4	0.038
18	29488388	A	G	18	31908425	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.04378153333717E-4	0.028
18	29488388	A	T	18	31908425	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00172532878706992	0.044
18	29488389	A	C	18	31908426	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00266164344188463	0.132
18	29488389	A	G	18	31908426	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.99797038233223E-5	0.002
18	29488389	A	T	18	31908426	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00374495873471839	0.138
18	29488390	A	C	18	31908427	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0229942880968381	0.252
18	29488390	A	G	18	31908427	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00267640524096811	0.152
18	29488390	A	T	18	31908427	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0464192534491569	0.292
18	29488391	A	C	18	31908428	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00347119913964381	0.18
18	29488391	A	G	18	31908428	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.28509150513982E-4	0.058
18	29488391	A	T	18	31908428	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00177875982480092	0.152
18	29488392	G	A	18	31908429	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.72740367135043E-6	0.0
18	29488392	G	C	18	31908429	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.20360612315541E-4	0.038
18	29488392	G	T	18	31908429	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.65547165471995E-4	0.072
18	29488393	A	C	18	31908430	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.114997298156635	0.4
18	29488393	A	G	18	31908430	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0296176799203437	0.226
18	29488393	A	T	18	31908430	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.352971088189385	0.434
18	29488709	A	C	18	31908746	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.78414880090627E-5	0.0
18	29488709	A	G	18	31908746	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.50104470509993E-5	0.0
18	29488709	A	T	18	31908746	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.50104470509993E-5	0.002
18	29488710	A	C	18	31908747	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.58992702814738E-5	0.0
18	29488710	A	G	18	31908747	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.58992702814738E-5	0.0
18	29488710	A	T	18	31908747	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.30477579161392E-5	0.0
18	29488711	C	A	18	31908748	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.49375384539763E-5	0.0
18	29488711	C	G	18	31908748	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.518856196325E-5	0.01
18	29488711	C	T	18	31908748	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.07974336816713E-5	0.0
18	29488712	C	A	18	31908749	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.291515344401901	0.488
18	29488712	C	G	18	31908749	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.237832239635299	0.538
18	29488712	C	T	18	31908749	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.552493475363724	0.504
18	29488713	T	A	18	31908750	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.338552142338547	0.366
18	29488713	T	C	18	31908750	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.392462817044397	0.39
18	29488713	T	G	18	31908750	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.203792847144423	0.408
18	29488714	T	A	18	31908751	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.941657465206539	0.624
18	29488714	T	C	18	31908751	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00366324584397849	0.084
18	29488714	T	G	18	31908751	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.953331803823724	0.648
18	29488715	A	C	18	31908752	y	y	splicing	TRAPPC8(NM_014939:exon8:c.1122+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.1122+2T>G;ENST00000580104:exon9:c.1122+2T>G;ENST00000582539:exon8:c.960+2T>G;ENST00000582513:exon8:c.1122+2T>G)	.	.	0.999988247793601	0.924
18	29488715	A	G	18	31908752	y	y	splicing	TRAPPC8(NM_014939:exon8:c.1122+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.1122+2T>C;ENST00000580104:exon9:c.1122+2T>C;ENST00000582539:exon8:c.960+2T>C;ENST00000582513:exon8:c.1122+2T>C)	.	.	0.986973409415639	0.62
18	29488715	A	T	18	31908752	y	y	splicing	TRAPPC8(NM_014939:exon8:c.1122+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.1122+2T>A;ENST00000580104:exon9:c.1122+2T>A;ENST00000582539:exon8:c.960+2T>A;ENST00000582513:exon8:c.1122+2T>A)	.	.	0.999988247793601	0.924
18	29488716	C	A	18	31908753	y	y	splicing	TRAPPC8(NM_014939:exon8:c.1122+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.1122+1G>T;ENST00000580104:exon9:c.1122+1G>T;ENST00000582539:exon8:c.960+1G>T;ENST00000582513:exon8:c.1122+1G>T)	.	.	0.999976137096505	0.928
18	29488716	C	G	18	31908753	y	y	splicing	TRAPPC8(NM_014939:exon8:c.1122+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.1122+1G>C;ENST00000580104:exon9:c.1122+1G>C;ENST00000582539:exon8:c.960+1G>C;ENST00000582513:exon8:c.1122+1G>C)	.	.	0.999938422912956	0.926
18	29488716	C	T	18	31908753	y	y	splicing	TRAPPC8(NM_014939:exon8:c.1122+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.1122+1G>A;ENST00000580104:exon9:c.1122+1G>A;ENST00000582539:exon8:c.960+1G>A;ENST00000582513:exon8:c.1122+1G>A)	.	.	0.999976137096505	0.934
18	29488717	C	A	18	31908754	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.G1122T:p.Q374H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.G960T:p.Q320H;ENSG00000153339:ENST00000580104:exon8:c.G1122T:p.Q374H;ENSG00000153339:ENST00000582513:exon7:c.G1122T:p.Q374H;ENSG00000153339:ENST00000283351:exon7:c.G1122T:p.Q374H;	0.989687857904277	0.84
18	29488717	C	G	18	31908754	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.G1122C:p.Q374H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.G960C:p.Q320H;ENSG00000153339:ENST00000580104:exon8:c.G1122C:p.Q374H;ENSG00000153339:ENST00000582513:exon7:c.G1122C:p.Q374H;ENSG00000153339:ENST00000283351:exon7:c.G1122C:p.Q374H;	0.998154221443864	0.838
18	29488717	C	T	18	31908754	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon7:c.G1122A:p.Q374Q;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.G960A:p.Q320Q;ENSG00000153339:ENST00000580104:exon8:c.G1122A:p.Q374Q;ENSG00000153339:ENST00000582513:exon7:c.G1122A:p.Q374Q;ENSG00000153339:ENST00000283351:exon7:c.G1122A:p.Q374Q;	0.966919296356949	0.882
18	29488718	T	A	18	31908755	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.A1121T:p.Q374L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.A959T:p.Q320L;ENSG00000153339:ENST00000580104:exon8:c.A1121T:p.Q374L;ENSG00000153339:ENST00000582513:exon7:c.A1121T:p.Q374L;ENSG00000153339:ENST00000283351:exon7:c.A1121T:p.Q374L;	0.774103999908377	0.626
18	29488718	T	C	18	31908755	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.A1121G:p.Q374R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.A959G:p.Q320R;ENSG00000153339:ENST00000580104:exon8:c.A1121G:p.Q374R;ENSG00000153339:ENST00000582513:exon7:c.A1121G:p.Q374R;ENSG00000153339:ENST00000283351:exon7:c.A1121G:p.Q374R;	0.807007647446115	0.572
18	29488718	T	G	18	31908755	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.A1121C:p.Q374P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.A959C:p.Q320P;ENSG00000153339:ENST00000580104:exon8:c.A1121C:p.Q374P;ENSG00000153339:ENST00000582513:exon7:c.A1121C:p.Q374P;ENSG00000153339:ENST00000283351:exon7:c.A1121C:p.Q374P;	0.499190715580048	0.464
18	29488719	G	A	18	31908756	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon7:c.C1120T:p.Q374X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon7:c.C958T:p.Q320X;ENSG00000153339:ENST00000580104:exon8:c.C1120T:p.Q374X;ENSG00000153339:ENST00000582513:exon7:c.C1120T:p.Q374X;ENSG00000153339:ENST00000283351:exon7:c.C1120T:p.Q374X;	0.996622542806708	0.82
18	29488719	G	C	18	31908756	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.C1120G:p.Q374E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.C958G:p.Q320E;ENSG00000153339:ENST00000580104:exon8:c.C1120G:p.Q374E;ENSG00000153339:ENST00000582513:exon7:c.C1120G:p.Q374E;ENSG00000153339:ENST00000283351:exon7:c.C1120G:p.Q374E;	0.0315393734651413	0.12
18	29488719	G	T	18	31908756	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.C1120A:p.Q374K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.C958A:p.Q320K;ENSG00000153339:ENST00000580104:exon8:c.C1120A:p.Q374K;ENSG00000153339:ENST00000582513:exon7:c.C1120A:p.Q374K;ENSG00000153339:ENST00000283351:exon7:c.C1120A:p.Q374K;	0.0170129167828913	0.138
18	29488972	A	C	18	31909009	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.T867G:p.D289E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.T705G:p.D235E;ENSG00000153339:ENST00000580104:exon8:c.T867G:p.D289E;ENSG00000153339:ENST00000582513:exon7:c.T867G:p.D289E;ENSG00000153339:ENST00000283351:exon7:c.T867G:p.D289E;	0.0469666822795662	.
18	29488972	A	G	18	31909009	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon7:c.T867C:p.D289D;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.T705C:p.D235D;ENSG00000153339:ENST00000580104:exon8:c.T867C:p.D289D;ENSG00000153339:ENST00000582513:exon7:c.T867C:p.D289D;ENSG00000153339:ENST00000283351:exon7:c.T867C:p.D289D;	0.0250972331752213	.
18	29488972	A	T	18	31909009	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.T867A:p.D289E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.T705A:p.D235E;ENSG00000153339:ENST00000580104:exon8:c.T867A:p.D289E;ENSG00000153339:ENST00000582513:exon7:c.T867A:p.D289E;ENSG00000153339:ENST00000283351:exon7:c.T867A:p.D289E;	0.0635815393159996	.
18	29488973	T	A	18	31909010	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.A866T:p.D289V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.A704T:p.D235V;ENSG00000153339:ENST00000580104:exon8:c.A866T:p.D289V;ENSG00000153339:ENST00000582513:exon7:c.A866T:p.D289V;ENSG00000153339:ENST00000283351:exon7:c.A866T:p.D289V;	0.0917562448212071	.
18	29488973	T	C	18	31909010	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.A866G:p.D289G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.A704G:p.D235G;ENSG00000153339:ENST00000580104:exon8:c.A866G:p.D289G;ENSG00000153339:ENST00000582513:exon7:c.A866G:p.D289G;ENSG00000153339:ENST00000283351:exon7:c.A866G:p.D289G;	6.07107007420991E-4	.
18	29488973	T	G	18	31909010	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon7:c.A866C:p.D289A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon7:c.A704C:p.D235A;ENSG00000153339:ENST00000580104:exon8:c.A866C:p.D289A;ENSG00000153339:ENST00000582513:exon7:c.A866C:p.D289A;ENSG00000153339:ENST00000283351:exon7:c.A866C:p.D289A;	0.0811999658689573	.
18	29488974	C	A	18	31909011	y	y	splicing	TRAPPC8(NM_014939:exon8:c.866-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.866-1G>T;ENST00000580104:exon9:c.866-1G>T;ENST00000582539:exon8:c.704-1G>T;ENST00000582513:exon8:c.866-1G>T)	.	.	0.999960095528581	.
18	29488974	C	G	18	31909011	y	y	splicing	TRAPPC8(NM_014939:exon8:c.866-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.866-1G>C;ENST00000580104:exon9:c.866-1G>C;ENST00000582539:exon8:c.704-1G>C;ENST00000582513:exon8:c.866-1G>C)	.	.	0.999960095528581	.
18	29488974	C	T	18	31909011	y	y	splicing	TRAPPC8(NM_014939:exon8:c.866-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.866-1G>A;ENST00000580104:exon9:c.866-1G>A;ENST00000582539:exon8:c.704-1G>A;ENST00000582513:exon8:c.866-1G>A)	.	.	0.999960095528581	.
18	29488975	T	A	18	31909012	y	y	splicing	TRAPPC8(NM_014939:exon8:c.866-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.866-2A>T;ENST00000580104:exon9:c.866-2A>T;ENST00000582539:exon8:c.704-2A>T;ENST00000582513:exon8:c.866-2A>T)	.	.	0.999959852047835	.
18	29488975	T	C	18	31909012	y	y	splicing	TRAPPC8(NM_014939:exon8:c.866-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.866-2A>G;ENST00000580104:exon9:c.866-2A>G;ENST00000582539:exon8:c.704-2A>G;ENST00000582513:exon8:c.866-2A>G)	.	.	0.999928099411068	.
18	29488975	T	G	18	31909012	y	y	splicing	TRAPPC8(NM_014939:exon8:c.866-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon8:c.866-2A>C;ENST00000580104:exon9:c.866-2A>C;ENST00000582539:exon8:c.704-2A>C;ENST00000582513:exon8:c.866-2A>C)	.	.	0.999928099411068	.
18	29488976	A	C	18	31909013	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998231017937893	.
18	29488976	A	G	18	31909013	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.14492882634301E-4	.
18	29488976	A	T	18	31909013	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0695231481349067	.
18	29488977	C	A	18	31909014	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.31186999059437E-4	.
18	29488977	C	G	18	31909014	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.79626378797951E-5	.
18	29488977	C	T	18	31909014	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.31726987377175E-4	.
18	29488978	T	A	18	31909015	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.46299470070079E-4	.
18	29488978	T	C	18	31909015	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00130482553777446	.
18	29488978	T	G	18	31909015	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.95593019696394E-4	.
18	29488979	G	A	18	31909016	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00548775516729847	.
18	29488979	G	C	18	31909016	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.931567963008199	.
18	29488979	G	T	18	31909016	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.899440698274645	.
18	29488980	A	C	18	31909017	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.545748496167191	.
18	29488980	A	G	18	31909017	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.8019725685156E-4	.
18	29488980	A	T	18	31909017	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.820824488350267	.
18	29488981	A	C	18	31909018	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00129186120165688	.
18	29488981	A	G	18	31909018	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.4417898343145E-5	.
18	29488981	A	T	18	31909018	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00604163069771468	.
18	29488982	A	C	18	31909019	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.908384232435524	.
18	29488982	A	G	18	31909019	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0324739755507959	.
18	29488982	A	T	18	31909019	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.905820496194869	.
18	29488983	A	C	18	31909020	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.843013860828434	.
18	29488983	A	G	18	31909020	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00712953771665696	.
18	29488983	A	T	18	31909020	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.958323856802168	.
18	29488984	A	C	18	31909021	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.170824511581009	.
18	29488984	A	G	18	31909021	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0301576379735942	.
18	29488984	A	T	18	31909021	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.698598312929033	.
18	29488985	G	A	18	31909022	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.92851336332963E-5	.
18	29488985	G	C	18	31909022	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.71770204341098E-4	.
18	29488985	G	T	18	31909022	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.50966849218647E-4	.
18	29489622	A	C	18	31909659	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00291081742893897	0.052
18	29489622	A	G	18	31909659	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00209318960161158	0.044
18	29489622	A	T	18	31909659	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00291564953214695	0.054
18	29489623	T	A	18	31909660	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.55421488452098E-4	0.022
18	29489623	T	C	18	31909660	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.01340311681037E-4	0.074
18	29489623	T	G	18	31909660	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.49526458979879E-4	0.292
18	29489624	C	A	18	31909661	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.33091493257679E-5	0.07
18	29489624	C	G	18	31909661	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.54844356958978E-5	0.16
18	29489624	C	T	18	31909661	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0154040783818935	0.092
18	29489625	A	C	18	31909662	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.73553002769854E-4	0.056
18	29489625	A	G	18	31909662	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0512204416378507	0.182
18	29489625	A	T	18	31909662	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0659093671515836	0.21
18	29489626	A	C	18	31909663	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0536244272519937	0.19
18	29489626	A	G	18	31909663	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.199138308959877	0.286
18	29489626	A	T	18	31909663	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00153393791543347	0.12
18	29489627	G	A	18	31909664	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00500865840410266	0.098
18	29489627	G	C	18	31909664	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00141000607482811	0.14
18	29489627	G	T	18	31909664	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.53969299553507E-4	0.074
18	29489628	A	C	18	31909665	y	y	splicing	TRAPPC8(NM_014939:exon7:c.865+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.865+2T>G;ENST00000580104:exon8:c.865+2T>G;ENST00000582539:exon7:c.703+2T>G;ENST00000582513:exon7:c.865+2T>G)	.	.	0.999933834912627	0.872
18	29489628	A	G	18	31909665	y	y	splicing	TRAPPC8(NM_014939:exon7:c.865+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.865+2T>C;ENST00000580104:exon8:c.865+2T>C;ENST00000582539:exon7:c.703+2T>C;ENST00000582513:exon7:c.865+2T>C)	.	.	0.999349822006704	0.75
18	29489628	A	T	18	31909665	y	y	splicing	TRAPPC8(NM_014939:exon7:c.865+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.865+2T>A;ENST00000580104:exon8:c.865+2T>A;ENST00000582539:exon7:c.703+2T>A;ENST00000582513:exon7:c.865+2T>A)	.	.	0.999933834912627	0.872
18	29489629	C	A	18	31909666	y	y	splicing	TRAPPC8(NM_014939:exon7:c.865+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.865+1G>T;ENST00000580104:exon8:c.865+1G>T;ENST00000582539:exon7:c.703+1G>T;ENST00000582513:exon7:c.865+1G>T)	.	.	0.999978187515213	0.862
18	29489629	C	G	18	31909666	y	y	splicing	TRAPPC8(NM_014939:exon7:c.865+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.865+1G>C;ENST00000580104:exon8:c.865+1G>C;ENST00000582539:exon7:c.703+1G>C;ENST00000582513:exon7:c.865+1G>C)	.	.	0.999978187515213	0.862
18	29489629	C	T	18	31909666	y	y	splicing	TRAPPC8(NM_014939:exon7:c.865+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.865+1G>A;ENST00000580104:exon8:c.865+1G>A;ENST00000582539:exon7:c.703+1G>A;ENST00000582513:exon7:c.865+1G>A)	.	.	0.999978187515213	0.862
18	29489630	C	A	18	31909667	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.G865T:p.D289Y;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.G703T:p.D235Y;ENSG00000153339:ENST00000580104:exon7:c.G865T:p.D289Y;ENSG00000153339:ENST00000582513:exon6:c.G865T:p.D289Y;ENSG00000153339:ENST00000283351:exon6:c.G865T:p.D289Y;	0.999708364567518	0.898
18	29489630	C	G	18	31909667	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.G865C:p.D289H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.G703C:p.D235H;ENSG00000153339:ENST00000580104:exon7:c.G865C:p.D289H;ENSG00000153339:ENST00000582513:exon6:c.G865C:p.D289H;ENSG00000153339:ENST00000283351:exon6:c.G865C:p.D289H;	0.999857303358827	0.89
18	29489630	C	T	18	31909667	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.G865A:p.D289N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.G703A:p.D235N;ENSG00000153339:ENST00000580104:exon7:c.G865A:p.D289N;ENSG00000153339:ENST00000582513:exon6:c.G865A:p.D289N;ENSG00000153339:ENST00000283351:exon6:c.G865A:p.D289N;	0.999911557383671	0.918
18	29489631	T	A	18	31909668	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.A864T:p.K288N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A702T:p.K234N;ENSG00000153339:ENST00000580104:exon7:c.A864T:p.K288N;ENSG00000153339:ENST00000582513:exon6:c.A864T:p.K288N;ENSG00000153339:ENST00000283351:exon6:c.A864T:p.K288N;	0.998544127542732	0.9
18	29489631	T	C	18	31909668	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon6:c.A864G:p.K288K;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A702G:p.K234K;ENSG00000153339:ENST00000580104:exon7:c.A864G:p.K288K;ENSG00000153339:ENST00000582513:exon6:c.A864G:p.K288K;ENSG00000153339:ENST00000283351:exon6:c.A864G:p.K288K;	0.999690010686674	0.916
18	29489631	T	G	18	31909668	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.A864C:p.K288N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A702C:p.K234N;ENSG00000153339:ENST00000580104:exon7:c.A864C:p.K288N;ENSG00000153339:ENST00000582513:exon6:c.A864C:p.K288N;ENSG00000153339:ENST00000283351:exon6:c.A864C:p.K288N;	0.999335818440755	0.892
18	29489632	T	A	18	31909669	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.A863T:p.K288I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A701T:p.K234I;ENSG00000153339:ENST00000580104:exon7:c.A863T:p.K288I;ENSG00000153339:ENST00000582513:exon6:c.A863T:p.K288I;ENSG00000153339:ENST00000283351:exon6:c.A863T:p.K288I;	0.955132069410579	0.696
18	29489632	T	C	18	31909669	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.A863G:p.K288R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A701G:p.K234R;ENSG00000153339:ENST00000580104:exon7:c.A863G:p.K288R;ENSG00000153339:ENST00000582513:exon6:c.A863G:p.K288R;ENSG00000153339:ENST00000283351:exon6:c.A863G:p.K288R;	0.127019748862777	0.346
18	29489632	T	G	18	31909669	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.A863C:p.K288T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A701C:p.K234T;ENSG00000153339:ENST00000580104:exon7:c.A863C:p.K288T;ENSG00000153339:ENST00000582513:exon6:c.A863C:p.K288T;ENSG00000153339:ENST00000283351:exon6:c.A863C:p.K288T;	0.00284084195491081	0.068
18	29489722	T	A	18	31909759	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.A773T:p.E258V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A611T:p.E204V;ENSG00000153339:ENST00000580104:exon7:c.A773T:p.E258V;ENSG00000153339:ENST00000582513:exon6:c.A773T:p.E258V;ENSG00000153339:ENST00000283351:exon6:c.A773T:p.E258V;	0.00354182242791465	0.034
18	29489722	T	C	18	31909759	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.A773G:p.E258G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A611G:p.E204G;ENSG00000153339:ENST00000580104:exon7:c.A773G:p.E258G;ENSG00000153339:ENST00000582513:exon6:c.A773G:p.E258G;ENSG00000153339:ENST00000283351:exon6:c.A773G:p.E258G;	0.0140253957551601	0.06
18	29489722	T	G	18	31909759	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.A773C:p.E258A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.A611C:p.E204A;ENSG00000153339:ENST00000580104:exon7:c.A773C:p.E258A;ENSG00000153339:ENST00000582513:exon6:c.A773C:p.E258A;ENSG00000153339:ENST00000283351:exon6:c.A773C:p.E258A;	0.00765061618358674	0.11
18	29489723	C	A	18	31909760	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon6:c.G772T:p.E258X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon6:c.G610T:p.E204X;ENSG00000153339:ENST00000580104:exon7:c.G772T:p.E258X;ENSG00000153339:ENST00000582513:exon6:c.G772T:p.E258X;ENSG00000153339:ENST00000283351:exon6:c.G772T:p.E258X;	0.999950704095524	0.986
18	29489723	C	G	18	31909760	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.G772C:p.E258Q;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.G610C:p.E204Q;ENSG00000153339:ENST00000580104:exon7:c.G772C:p.E258Q;ENSG00000153339:ENST00000582513:exon6:c.G772C:p.E258Q;ENSG00000153339:ENST00000283351:exon6:c.G772C:p.E258Q;	0.998802157727957	0.932
18	29489723	C	T	18	31909760	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon6:c.G772A:p.E258K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon6:c.G610A:p.E204K;ENSG00000153339:ENST00000580104:exon7:c.G772A:p.E258K;ENSG00000153339:ENST00000582513:exon6:c.G772A:p.E258K;ENSG00000153339:ENST00000283351:exon6:c.G772A:p.E258K;	0.996454475474582	0.826
18	29489724	C	A	18	31909761	y	y	splicing	TRAPPC8(NM_014939:exon7:c.772-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.772-1G>T;ENST00000580104:exon8:c.772-1G>T;ENST00000582539:exon7:c.610-1G>T;ENST00000582513:exon7:c.772-1G>T)	.	.	0.999986675681007	0.926
18	29489724	C	G	18	31909761	y	y	splicing	TRAPPC8(NM_014939:exon7:c.772-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.772-1G>C;ENST00000580104:exon8:c.772-1G>C;ENST00000582539:exon7:c.610-1G>C;ENST00000582513:exon7:c.772-1G>C)	.	.	0.999986675681007	0.924
18	29489724	C	T	18	31909761	y	y	splicing	TRAPPC8(NM_014939:exon7:c.772-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.772-1G>A;ENST00000580104:exon8:c.772-1G>A;ENST00000582539:exon7:c.610-1G>A;ENST00000582513:exon7:c.772-1G>A)	.	.	0.999986675681007	0.926
18	29489725	T	A	18	31909762	y	y	splicing	TRAPPC8(NM_014939:exon7:c.772-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.772-2A>T;ENST00000580104:exon8:c.772-2A>T;ENST00000582539:exon7:c.610-2A>T;ENST00000582513:exon7:c.772-2A>T)	.	.	0.999988247793601	0.926
18	29489725	T	C	18	31909762	y	y	splicing	TRAPPC8(NM_014939:exon7:c.772-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.772-2A>G;ENST00000580104:exon8:c.772-2A>G;ENST00000582539:exon7:c.610-2A>G;ENST00000582513:exon7:c.772-2A>G)	.	.	0.999988247793601	0.926
18	29489725	T	G	18	31909762	y	y	splicing	TRAPPC8(NM_014939:exon7:c.772-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon7:c.772-2A>C;ENST00000580104:exon8:c.772-2A>C;ENST00000582539:exon7:c.610-2A>C;ENST00000582513:exon7:c.772-2A>C)	.	.	0.999988247793601	0.926
18	29489726	A	C	18	31909763	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999040376674513	0.796
18	29489726	A	G	18	31909763	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00293751848377277	0.018
18	29489726	A	T	18	31909763	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.641617239206807	0.44
18	29489727	T	A	18	31909764	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00433536003330669	0.052
18	29489727	T	C	18	31909764	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00768999245743	0.282
18	29489727	T	G	18	31909764	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.22634747450726E-5	0.016
18	29489728	C	A	18	31909765	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.44692171632643E-4	0.014
18	29489728	C	G	18	31909765	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.87868568849147E-4	0.004
18	29489728	C	T	18	31909765	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.09289345833672E-4	0.02
18	29489729	A	C	18	31909766	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.810788745662135	0.754
18	29489729	A	G	18	31909766	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00122055601742995	0.118
18	29489729	A	T	18	31909766	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999924635222567	0.972
18	29489730	A	C	18	31909767	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.114975262671867	0.188
18	29489730	A	G	18	31909767	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.47388660704883E-4	0.018
18	29489730	A	T	18	31909767	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0500179893269328	0.274
18	29489731	A	C	18	31909768	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.153095761108534	0.586
18	29489731	A	G	18	31909768	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00167516715141781	0.066
18	29489731	A	T	18	31909768	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.285644020963409	0.61
18	29489732	A	C	18	31909769	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999980061220944	0.968
18	29489732	A	G	18	31909769	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.6707884631882	0.358
18	29489732	A	T	18	31909769	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998862349681888	0.916
18	29489733	T	A	18	31909770	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.34863132347643E-6	0.026
18	29489733	T	C	18	31909770	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.7225046201059E-4	0.08
18	29489733	T	G	18	31909770	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.24262622831342E-4	0.04
18	29489734	A	C	18	31909771	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999332080089484	0.926
18	29489734	A	G	18	31909771	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.941399909739116	0.462
18	29489734	A	T	18	31909771	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999610416492229	0.948
18	29489735	A	C	18	31909772	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.955459492602604	0.628
18	29489735	A	G	18	31909772	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00697530843914472	0.07
18	29489735	A	T	18	31909772	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99532850058879	0.778
18	29493324	A	C	18	31913361	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00624752024646445	0.11
18	29493324	A	G	18	31913361	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0013528069761312	0.048
18	29493324	A	T	18	31913361	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00206629494303565	0.108
18	29493325	C	A	18	31913362	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.5092452581904E-5	0.0
18	29493325	C	G	18	31913362	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.10577017760203E-5	0.0
18	29493325	C	T	18	31913362	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.10577017760203E-5	0.0
18	29493326	A	C	18	31913363	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.020610078470802	0.31
18	29493326	A	G	18	31913363	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0461493106069693	0.262
18	29493326	A	T	18	31913363	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.083379183575707	0.276
18	29493327	T	A	18	31913364	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00104700171593047	0.108
18	29493327	T	C	18	31913364	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.15850513879882E-4	0.038
18	29493327	T	G	18	31913364	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00100322172585947	0.156
18	29493328	A	C	18	31913365	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.31555815121088E-5	0.01
18	29493328	A	G	18	31913365	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.53094699498172E-4	0.068
18	29493328	A	T	18	31913365	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.71346720190129E-5	0.01
18	29493329	T	A	18	31913366	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999570059883009	0.976
18	29493329	T	C	18	31913366	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99885251962913	0.89
18	29493329	T	G	18	31913366	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999926500497106	0.934
18	29493330	A	C	18	31913367	y	y	splicing	TRAPPC8(NM_014939:exon6:c.771+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.771+2T>G;ENST00000580104:exon7:c.771+2T>G;ENST00000582539:exon6:c.609+2T>G;ENST00000582513:exon6:c.771+2T>G)	.	.	0.999988247793601	0.93
18	29493330	A	G	18	31913367	y	y	splicing	TRAPPC8(NM_014939:exon6:c.771+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.771+2T>C;ENST00000580104:exon7:c.771+2T>C;ENST00000582539:exon6:c.609+2T>C;ENST00000582513:exon6:c.771+2T>C)	.	.	0.995320650369382	0.712
18	29493330	A	T	18	31913367	y	y	splicing	TRAPPC8(NM_014939:exon6:c.771+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.771+2T>A;ENST00000580104:exon7:c.771+2T>A;ENST00000582539:exon6:c.609+2T>A;ENST00000582513:exon6:c.771+2T>A)	.	.	0.999988247793601	0.93
18	29493331	C	A	18	31913368	y	y	splicing	TRAPPC8(NM_014939:exon6:c.771+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.771+1G>T;ENST00000580104:exon7:c.771+1G>T;ENST00000582539:exon6:c.609+1G>T;ENST00000582513:exon6:c.771+1G>T)	.	.	0.999990361384395	0.938
18	29493331	C	G	18	31913368	y	y	splicing	TRAPPC8(NM_014939:exon6:c.771+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.771+1G>C;ENST00000580104:exon7:c.771+1G>C;ENST00000582539:exon6:c.609+1G>C;ENST00000582513:exon6:c.771+1G>C)	.	.	0.999990361384395	0.938
18	29493331	C	T	18	31913368	y	y	splicing	TRAPPC8(NM_014939:exon6:c.771+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.771+1G>A;ENST00000580104:exon7:c.771+1G>A;ENST00000582539:exon6:c.609+1G>A;ENST00000582513:exon6:c.771+1G>A)	.	.	0.999990361384395	0.938
18	29493332	C	A	18	31913369	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.G771T:p.Q257H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon5:c.G609T:p.Q203H;ENSG00000153339:ENST00000580104:exon6:c.G771T:p.Q257H;ENSG00000153339:ENST00000582513:exon5:c.G771T:p.Q257H;ENSG00000153339:ENST00000283351:exon5:c.G771T:p.Q257H;	0.999957693930181	1.0
18	29493332	C	G	18	31913369	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.G771C:p.Q257H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon5:c.G609C:p.Q203H;ENSG00000153339:ENST00000580104:exon6:c.G771C:p.Q257H;ENSG00000153339:ENST00000582513:exon5:c.G771C:p.Q257H;ENSG00000153339:ENST00000283351:exon5:c.G771C:p.Q257H;	0.99999318584565	1.0
18	29493332	C	T	18	31913369	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon5:c.G771A:p.Q257Q;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000582539:exon5:c.G609A:p.Q203Q;ENSG00000153339:ENST00000580104:exon6:c.G771A:p.Q257Q;ENSG00000153339:ENST00000582513:exon5:c.G771A:p.Q257Q;ENSG00000153339:ENST00000283351:exon5:c.G771A:p.Q257Q;	0.999971503351751	0.994
18	29493333	T	A	18	31913370	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.A770T:p.Q257L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon5:c.A608T:p.Q203L;ENSG00000153339:ENST00000580104:exon6:c.A770T:p.Q257L;ENSG00000153339:ENST00000582513:exon5:c.A770T:p.Q257L;ENSG00000153339:ENST00000283351:exon5:c.A770T:p.Q257L;	0.999684665887779	0.992
18	29493333	T	C	18	31913370	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.A770G:p.Q257R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon5:c.A608G:p.Q203R;ENSG00000153339:ENST00000580104:exon6:c.A770G:p.Q257R;ENSG00000153339:ENST00000582513:exon5:c.A770G:p.Q257R;ENSG00000153339:ENST00000283351:exon5:c.A770G:p.Q257R;	0.999439451507957	0.97
18	29493333	T	G	18	31913370	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.A770C:p.Q257P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon5:c.A608C:p.Q203P;ENSG00000153339:ENST00000580104:exon6:c.A770C:p.Q257P;ENSG00000153339:ENST00000582513:exon5:c.A770C:p.Q257P;ENSG00000153339:ENST00000283351:exon5:c.A770C:p.Q257P;	0.995236443194663	0.964
18	29493334	G	A	18	31913371	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon5:c.C769T:p.Q257X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000582539:exon5:c.C607T:p.Q203X;ENSG00000153339:ENST00000580104:exon6:c.C769T:p.Q257X;ENSG00000153339:ENST00000582513:exon5:c.C769T:p.Q257X;ENSG00000153339:ENST00000283351:exon5:c.C769T:p.Q257X;	0.999724460592849	0.94
18	29493334	G	C	18	31913371	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.C769G:p.Q257E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon5:c.C607G:p.Q203E;ENSG00000153339:ENST00000580104:exon6:c.C769G:p.Q257E;ENSG00000153339:ENST00000582513:exon5:c.C769G:p.Q257E;ENSG00000153339:ENST00000283351:exon5:c.C769G:p.Q257E;	0.871593936392911	0.624
18	29493334	G	T	18	31913371	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.C769A:p.Q257K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000582539:exon5:c.C607A:p.Q203K;ENSG00000153339:ENST00000580104:exon6:c.C769A:p.Q257K;ENSG00000153339:ENST00000582513:exon5:c.C769A:p.Q257K;ENSG00000153339:ENST00000283351:exon5:c.C769A:p.Q257K;	0.916764195728922	0.768
18	29493484	C	A	18	31913521	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.G619T:p.A207S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon5:c.G544T:p.A182S;ENSG00000153339:ENST00000582539:exon5:c.G457T:p.A153S;ENSG00000153339:ENST00000580104:exon6:c.G619T:p.A207S;ENSG00000153339:ENST00000582513:exon5:c.G619T:p.A207S;ENSG00000153339:ENST00000283351:exon5:c.G619T:p.A207S;	0.976124238875385	0.806
18	29493484	C	G	18	31913521	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.G619C:p.A207P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon5:c.G544C:p.A182P;ENSG00000153339:ENST00000582539:exon5:c.G457C:p.A153P;ENSG00000153339:ENST00000580104:exon6:c.G619C:p.A207P;ENSG00000153339:ENST00000582513:exon5:c.G619C:p.A207P;ENSG00000153339:ENST00000283351:exon5:c.G619C:p.A207P;	0.969392401412863	0.806
18	29493484	C	T	18	31913521	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.G619A:p.A207T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon5:c.G544A:p.A182T;ENSG00000153339:ENST00000582539:exon5:c.G457A:p.A153T;ENSG00000153339:ENST00000580104:exon6:c.G619A:p.A207T;ENSG00000153339:ENST00000582513:exon5:c.G619A:p.A207T;ENSG00000153339:ENST00000283351:exon5:c.G619A:p.A207T;	0.976627395766123	0.844
18	29493485	T	A	18	31913522	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.A618T:p.R206S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon5:c.A543T:p.R181S;ENSG00000153339:ENST00000582539:exon5:c.A456T:p.R152S;ENSG00000153339:ENST00000580104:exon6:c.A618T:p.R206S;ENSG00000153339:ENST00000582513:exon5:c.A618T:p.R206S;ENSG00000153339:ENST00000283351:exon5:c.A618T:p.R206S;	7.30369307035486E-4	0.01
18	29493485	T	C	18	31913522	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon5:c.A618G:p.R206R;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon5:c.A543G:p.R181R;ENSG00000153339:ENST00000582539:exon5:c.A456G:p.R152R;ENSG00000153339:ENST00000580104:exon6:c.A618G:p.R206R;ENSG00000153339:ENST00000582513:exon5:c.A618G:p.R206R;ENSG00000153339:ENST00000283351:exon5:c.A618G:p.R206R;	2.78285642989952E-5	0.0
18	29493485	T	G	18	31913522	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon5:c.A618C:p.R206S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon5:c.A543C:p.R181S;ENSG00000153339:ENST00000582539:exon5:c.A456C:p.R152S;ENSG00000153339:ENST00000580104:exon6:c.A618C:p.R206S;ENSG00000153339:ENST00000582513:exon5:c.A618C:p.R206S;ENSG00000153339:ENST00000283351:exon5:c.A618C:p.R206S;	8.36156938166627E-4	0.02
18	29493486	C	A	18	31913523	y	y	splicing	TRAPPC8(NM_014939:exon6:c.618-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.618-1G>T;ENST00000580104:exon7:c.618-1G>T;ENST00000582539:exon6:c.456-1G>T;ENST00000582513:exon6:c.618-1G>T;ENST00000578658:exon6:c.543-1G>T)	.	.	0.999990361384395	0.938
18	29493486	C	G	18	31913523	y	y	splicing	TRAPPC8(NM_014939:exon6:c.618-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.618-1G>C;ENST00000580104:exon7:c.618-1G>C;ENST00000582539:exon6:c.456-1G>C;ENST00000582513:exon6:c.618-1G>C;ENST00000578658:exon6:c.543-1G>C)	.	.	0.999990361384395	0.938
18	29493486	C	T	18	31913523	y	y	splicing	TRAPPC8(NM_014939:exon6:c.618-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.618-1G>A;ENST00000580104:exon7:c.618-1G>A;ENST00000582539:exon6:c.456-1G>A;ENST00000582513:exon6:c.618-1G>A;ENST00000578658:exon6:c.543-1G>A)	.	.	0.999990361384395	0.938
18	29493487	T	A	18	31913524	y	y	splicing	TRAPPC8(NM_014939:exon6:c.618-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.618-2A>T;ENST00000580104:exon7:c.618-2A>T;ENST00000582539:exon6:c.456-2A>T;ENST00000582513:exon6:c.618-2A>T;ENST00000578658:exon6:c.543-2A>T)	.	.	0.999988247793601	0.928
18	29493487	T	C	18	31913524	y	y	splicing	TRAPPC8(NM_014939:exon6:c.618-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.618-2A>G;ENST00000580104:exon7:c.618-2A>G;ENST00000582539:exon6:c.456-2A>G;ENST00000582513:exon6:c.618-2A>G;ENST00000578658:exon6:c.543-2A>G)	.	.	0.999988247793601	0.928
18	29493487	T	G	18	31913524	y	y	splicing	TRAPPC8(NM_014939:exon6:c.618-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon6:c.618-2A>C;ENST00000580104:exon7:c.618-2A>C;ENST00000582539:exon6:c.456-2A>C;ENST00000582513:exon6:c.618-2A>C;ENST00000578658:exon6:c.543-2A>C)	.	.	0.999988247793601	0.928
18	29493488	A	C	18	31913525	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.989259460341181	0.676
18	29493488	A	G	18	31913525	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.12790493641956E-5	0.012
18	29493488	A	T	18	31913525	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00956553331191183	0.19
18	29493489	A	C	18	31913526	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00148921265744647	0.052
18	29493489	A	G	18	31913526	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.05248187553148E-5	0.008
18	29493489	A	T	18	31913526	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.86297428513472E-4	0.008
18	29493490	A	C	18	31913527	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.931852764463962	0.732
18	29493490	A	G	18	31913527	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0395501941509643	0.18
18	29493490	A	T	18	31913527	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.934777986267576	0.834
18	29493491	A	C	18	31913528	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.78919916977717	0.674
18	29493491	A	G	18	31913528	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0023660412324191	0.05
18	29493491	A	T	18	31913528	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.883989161217392	0.686
18	29493492	C	A	18	31913529	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.49765605432157E-5	0.0
18	29493492	C	G	18	31913529	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.69323566344873E-5	0.002
18	29493492	C	T	18	31913529	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.61241875122727E-5	0.0
18	29493493	A	C	18	31913530	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00951862213001633	0.286
18	29493493	A	G	18	31913530	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.12182061136339E-4	0.004
18	29493493	A	T	18	31913530	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99978111481968	0.976
18	29493494	G	A	18	31913531	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.3848494320205E-5	0.0
18	29493494	G	C	18	31913531	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.17572462006158E-4	0.02
18	29493494	G	T	18	31913531	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.5809181019139E-4	0.01
18	29493495	A	C	18	31913532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0940134342483413	0.502
18	29493495	A	G	18	31913532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00611904544836838	0.068
18	29493495	A	T	18	31913532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0484967589838103	0.55
18	29493496	A	C	18	31913533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.45155587190891	0.474
18	29493496	A	G	18	31913533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00471315154997895	0.176
18	29493496	A	T	18	31913533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.589709019562294	0.656
18	29493497	A	C	18	31913534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.574019181980655	0.548
18	29493497	A	G	18	31913534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00197698350563954	0.042
18	29493497	A	T	18	31913534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.692462208993641	0.574
18	29496227	A	C	18	31916264	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0166570018277639	0.02
18	29496227	A	G	18	31916264	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0166570018277639	0.028
18	29496227	A	T	18	31916264	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0225415829961547	0.056
18	29496228	A	C	18	31916265	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.33698758487849E-4	0.014
18	29496228	A	G	18	31916265	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.60440892659194E-4	0.026
18	29496228	A	T	18	31916265	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.5982790009972E-4	0.004
18	29496229	A	C	18	31916266	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.81202410410259E-4	0.104
18	29496229	A	G	18	31916266	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0100816557366846	0.14
18	29496229	A	T	18	31916266	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00763844114029944	0.136
18	29496230	C	A	18	31916267	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.964131805415333	0.602
18	29496230	C	G	18	31916267	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.981671492636009	0.62
18	29496230	C	T	18	31916267	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.993719002040143	0.764
18	29496231	T	A	18	31916268	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.747418175376064	0.522
18	29496231	T	C	18	31916268	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.782423789897859	0.466
18	29496231	T	G	18	31916268	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.449775577445842	0.576
18	29496232	T	A	18	31916269	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.905561550947608	0.576
18	29496232	T	C	18	31916269	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0169063936377084	0.112
18	29496232	T	G	18	31916269	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.88163160723851	0.626
18	29496233	A	C	18	31916270	y	y	splicing	TRAPPC8(NM_014939:exon5:c.617+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.617+2T>G;ENST00000580104:exon6:c.617+2T>G;ENST00000582539:exon5:c.455+2T>G;ENST00000582513:exon5:c.617+2T>G;ENST00000578658:exon5:c.542+2T>G)	.	.	0.999988247793601	0.928
18	29496233	A	G	18	31916270	y	y	splicing	TRAPPC8(NM_014939:exon5:c.617+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.617+2T>C;ENST00000580104:exon6:c.617+2T>C;ENST00000582539:exon5:c.455+2T>C;ENST00000582513:exon5:c.617+2T>C;ENST00000578658:exon5:c.542+2T>C)	.	.	0.99416530160294	0.656
18	29496233	A	T	18	31916270	y	y	splicing	TRAPPC8(NM_014939:exon5:c.617+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.617+2T>A;ENST00000580104:exon6:c.617+2T>A;ENST00000582539:exon5:c.455+2T>A;ENST00000582513:exon5:c.617+2T>A;ENST00000578658:exon5:c.542+2T>A)	.	.	0.999988247793601	0.928
18	29496234	C	A	18	31916271	y	y	splicing	TRAPPC8(NM_014939:exon5:c.617+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.617+1G>T;ENST00000580104:exon6:c.617+1G>T;ENST00000582539:exon5:c.455+1G>T;ENST00000582513:exon5:c.617+1G>T;ENST00000578658:exon5:c.542+1G>T)	.	.	0.999986675681007	0.932
18	29496234	C	G	18	31916271	y	y	splicing	TRAPPC8(NM_014939:exon5:c.617+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.617+1G>C;ENST00000580104:exon6:c.617+1G>C;ENST00000582539:exon5:c.455+1G>C;ENST00000582513:exon5:c.617+1G>C;ENST00000578658:exon5:c.542+1G>C)	.	.	0.999986675681007	0.932
18	29496234	C	T	18	31916271	y	y	splicing	TRAPPC8(NM_014939:exon5:c.617+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.617+1G>A;ENST00000580104:exon6:c.617+1G>A;ENST00000582539:exon5:c.455+1G>A;ENST00000582513:exon5:c.617+1G>A;ENST00000578658:exon5:c.542+1G>A)	.	.	0.999986675681007	0.932
18	29496235	C	A	18	31916272	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.G617T:p.R206I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G542T:p.R181I;ENSG00000153339:ENST00000582539:exon4:c.G455T:p.R152I;ENSG00000153339:ENST00000580104:exon5:c.G617T:p.R206I;ENSG00000153339:ENST00000582513:exon4:c.G617T:p.R206I;ENSG00000153339:ENST00000283351:exon4:c.G617T:p.R206I;	0.997523229646655	0.836
18	29496235	C	G	18	31916272	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.G617C:p.R206T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G542C:p.R181T;ENSG00000153339:ENST00000582539:exon4:c.G455C:p.R152T;ENSG00000153339:ENST00000580104:exon5:c.G617C:p.R206T;ENSG00000153339:ENST00000582513:exon4:c.G617C:p.R206T;ENSG00000153339:ENST00000283351:exon4:c.G617C:p.R206T;	0.974981057902618	0.674
18	29496235	C	T	18	31916272	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.G617A:p.R206K;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G542A:p.R181K;ENSG00000153339:ENST00000582539:exon4:c.G455A:p.R152K;ENSG00000153339:ENST00000580104:exon5:c.G617A:p.R206K;ENSG00000153339:ENST00000582513:exon4:c.G617A:p.R206K;ENSG00000153339:ENST00000283351:exon4:c.G617A:p.R206K;	0.998361076050139	0.86
18	29496236	T	A	18	31916273	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon4:c.A616T:p.R206X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000578658:exon4:c.A541T:p.R181X;ENSG00000153339:ENST00000582539:exon4:c.A454T:p.R152X;ENSG00000153339:ENST00000580104:exon5:c.A616T:p.R206X;ENSG00000153339:ENST00000582513:exon4:c.A616T:p.R206X;ENSG00000153339:ENST00000283351:exon4:c.A616T:p.R206X;	0.992952490292759	0.578
18	29496236	T	C	18	31916273	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.A616G:p.R206G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.A541G:p.R181G;ENSG00000153339:ENST00000582539:exon4:c.A454G:p.R152G;ENSG00000153339:ENST00000580104:exon5:c.A616G:p.R206G;ENSG00000153339:ENST00000582513:exon4:c.A616G:p.R206G;ENSG00000153339:ENST00000283351:exon4:c.A616G:p.R206G;	0.972967465901647	0.802
18	29496236	T	G	18	31916273	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon4:c.A616C:p.R206R;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.A541C:p.R181R;ENSG00000153339:ENST00000582539:exon4:c.A454C:p.R152R;ENSG00000153339:ENST00000580104:exon5:c.A616C:p.R206R;ENSG00000153339:ENST00000582513:exon4:c.A616C:p.R206R;ENSG00000153339:ENST00000283351:exon4:c.A616C:p.R206R;	0.981969944726508	0.73
18	29496237	C	A	18	31916274	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.G615T:p.Q205H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G540T:p.Q180H;ENSG00000153339:ENST00000582539:exon4:c.G453T:p.Q151H;ENSG00000153339:ENST00000580104:exon5:c.G615T:p.Q205H;ENSG00000153339:ENST00000582513:exon4:c.G615T:p.Q205H;ENSG00000153339:ENST00000283351:exon4:c.G615T:p.Q205H;	1.62042752403158E-4	0.006
18	29496237	C	G	18	31916274	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.G615C:p.Q205H;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G540C:p.Q180H;ENSG00000153339:ENST00000582539:exon4:c.G453C:p.Q151H;ENSG00000153339:ENST00000580104:exon5:c.G615C:p.Q205H;ENSG00000153339:ENST00000582513:exon4:c.G615C:p.Q205H;ENSG00000153339:ENST00000283351:exon4:c.G615C:p.Q205H;	2.09822822396856E-5	0.006
18	29496237	C	T	18	31916274	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon4:c.G615A:p.Q205Q;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G540A:p.Q180Q;ENSG00000153339:ENST00000582539:exon4:c.G453A:p.Q151Q;ENSG00000153339:ENST00000580104:exon5:c.G615A:p.Q205Q;ENSG00000153339:ENST00000582513:exon4:c.G615A:p.Q205Q;ENSG00000153339:ENST00000283351:exon4:c.G615A:p.Q205Q;	2.84133720666088E-5	0.104
18	29496408	A	C	18	31916445	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.T444G:p.C148W;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.T369G:p.C123W;ENSG00000153339:ENST00000582539:exon4:c.T282G:p.C94W;ENSG00000153339:ENST00000580104:exon5:c.T444G:p.C148W;ENSG00000153339:ENST00000582513:exon4:c.T444G:p.C148W;ENSG00000153339:ENST00000283351:exon4:c.T444G:p.C148W;	0.00331618981224529	0.062
18	29496408	A	G	18	31916445	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon4:c.T444C:p.C148C;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.T369C:p.C123C;ENSG00000153339:ENST00000582539:exon4:c.T282C:p.C94C;ENSG00000153339:ENST00000580104:exon5:c.T444C:p.C148C;ENSG00000153339:ENST00000582513:exon4:c.T444C:p.C148C;ENSG00000153339:ENST00000283351:exon4:c.T444C:p.C148C;	0.0260659075231901	0.198
18	29496408	A	T	18	31916445	y	y	exonic	TRAPPC8	stopgain SNV	TRAPPC8:NM_014939:exon4:c.T444A:p.C148X;	exonic	ENSG00000153339	stopgain SNV	ENSG00000153339:ENST00000578658:exon4:c.T369A:p.C123X;ENSG00000153339:ENST00000582539:exon4:c.T282A:p.C94X;ENSG00000153339:ENST00000580104:exon5:c.T444A:p.C148X;ENSG00000153339:ENST00000582513:exon4:c.T444A:p.C148X;ENSG00000153339:ENST00000283351:exon4:c.T444A:p.C148X;	0.020543977116003	0.218
18	29496409	C	A	18	31916446	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.G443T:p.C148F;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G368T:p.C123F;ENSG00000153339:ENST00000582539:exon4:c.G281T:p.C94F;ENSG00000153339:ENST00000580104:exon5:c.G443T:p.C148F;ENSG00000153339:ENST00000582513:exon4:c.G443T:p.C148F;ENSG00000153339:ENST00000283351:exon4:c.G443T:p.C148F;	0.999737312476401	0.974
18	29496409	C	G	18	31916446	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.G443C:p.C148S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G368C:p.C123S;ENSG00000153339:ENST00000582539:exon4:c.G281C:p.C94S;ENSG00000153339:ENST00000580104:exon5:c.G443C:p.C148S;ENSG00000153339:ENST00000582513:exon4:c.G443C:p.C148S;ENSG00000153339:ENST00000283351:exon4:c.G443C:p.C148S;	0.999749717983923	0.91
18	29496409	C	T	18	31916446	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon4:c.G443A:p.C148Y;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon4:c.G368A:p.C123Y;ENSG00000153339:ENST00000582539:exon4:c.G281A:p.C94Y;ENSG00000153339:ENST00000580104:exon5:c.G443A:p.C148Y;ENSG00000153339:ENST00000582513:exon4:c.G443A:p.C148Y;ENSG00000153339:ENST00000283351:exon4:c.G443A:p.C148Y;	0.99926094554935	0.858
18	29496410	C	A	18	31916447	y	y	splicing	TRAPPC8(NM_014939:exon5:c.443-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.443-1G>T;ENST00000580104:exon6:c.443-1G>T;ENST00000582539:exon5:c.281-1G>T;ENST00000582513:exon5:c.443-1G>T;ENST00000578658:exon5:c.368-1G>T)	.	.	0.999980303772886	0.906
18	29496410	C	G	18	31916447	y	y	splicing	TRAPPC8(NM_014939:exon5:c.443-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.443-1G>C;ENST00000580104:exon6:c.443-1G>C;ENST00000582539:exon5:c.281-1G>C;ENST00000582513:exon5:c.443-1G>C;ENST00000578658:exon5:c.368-1G>C)	.	.	0.999980303772886	0.906
18	29496410	C	T	18	31916447	y	y	splicing	TRAPPC8(NM_014939:exon5:c.443-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.443-1G>A;ENST00000580104:exon6:c.443-1G>A;ENST00000582539:exon5:c.281-1G>A;ENST00000582513:exon5:c.443-1G>A;ENST00000578658:exon5:c.368-1G>A)	.	.	0.999980303772886	0.906
18	29496411	T	A	18	31916448	y	y	splicing	TRAPPC8(NM_014939:exon5:c.443-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.443-2A>T;ENST00000580104:exon6:c.443-2A>T;ENST00000582539:exon5:c.281-2A>T;ENST00000582513:exon5:c.443-2A>T;ENST00000578658:exon5:c.368-2A>T)	.	.	0.999979394981131	0.912
18	29496411	T	C	18	31916448	y	y	splicing	TRAPPC8(NM_014939:exon5:c.443-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.443-2A>G;ENST00000580104:exon6:c.443-2A>G;ENST00000582539:exon5:c.281-2A>G;ENST00000582513:exon5:c.443-2A>G;ENST00000578658:exon5:c.368-2A>G)	.	.	0.999979394981131	0.912
18	29496411	T	G	18	31916448	y	y	splicing	TRAPPC8(NM_014939:exon5:c.443-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon5:c.443-2A>C;ENST00000580104:exon6:c.443-2A>C;ENST00000582539:exon5:c.281-2A>C;ENST00000582513:exon5:c.443-2A>C;ENST00000578658:exon5:c.368-2A>C)	.	.	0.999979394981131	0.912
18	29496412	T	A	18	31916449	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00118005113908672	0.01
18	29496412	T	C	18	31916449	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.614573310984591	0.262
18	29496412	T	G	18	31916449	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00120302464886726	0.046
18	29496413	G	A	18	31916450	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.3291476265181E-5	0.174
18	29496413	G	C	18	31916450	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999605193196761	0.958
18	29496413	G	T	18	31916450	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.60816601476967E-4	0.262
18	29496414	T	A	18	31916451	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.64308787828897E-4	0.026
18	29496414	T	C	18	31916451	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.75326681164821E-4	0.018
18	29496414	T	G	18	31916451	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.36207216069735E-5	0.02
18	29496415	A	C	18	31916452	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995342743011825	0.822
18	29496415	A	G	18	31916452	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0389594088324782	0.24
18	29496415	A	T	18	31916452	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995628159812072	0.812
18	29496416	A	C	18	31916453	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.968252501784344	0.67
18	29496416	A	G	18	31916453	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.47164235006662E-4	0.028
18	29496416	A	T	18	31916453	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995197156441971	0.724
18	29496417	A	C	18	31916454	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.283560443780744	0.43
18	29496417	A	G	18	31916454	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.10992274991044E-4	0.052
18	29496417	A	T	18	31916454	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.801319108321785	0.576
18	29496418	C	A	18	31916455	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.489870330777613	0.624
18	29496418	C	G	18	31916455	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.346787782684482	0.574
18	29496418	C	T	18	31916455	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.350591328751019	0.432
18	29496419	C	A	18	31916456	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0730382725566268	0.526
18	29496419	C	G	18	31916456	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0230214994496352	0.434
18	29496419	C	T	18	31916456	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998864651418374	0.934
18	29496420	A	C	18	31916457	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999964173115516	0.972
18	29496420	A	G	18	31916457	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.817021102732381	0.764
18	29496420	A	T	18	31916457	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999966831719066	0.97
18	29496421	T	A	18	31916458	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.86091269963092E-4	0.17
18	29496421	T	C	18	31916458	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.85487195794653E-5	0.064
18	29496421	T	G	18	31916458	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.12030242141968E-4	0.164
18	29497533	A	C	18	31917570	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.601698986354089	0.582
18	29497533	A	G	18	31917570	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.61576062854723	0.642
18	29497533	A	T	18	31917570	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.629628005461887	0.618
18	29497534	A	C	18	31917571	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.669402822527869	0.568
18	29497534	A	G	18	31917571	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.588373626746648	0.542
18	29497534	A	T	18	31917571	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.743162265843441	0.616
18	29497535	G	A	18	31917572	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.748461932712141	0.532
18	29497535	G	C	18	31917572	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.601525544234205	0.552
18	29497535	G	T	18	31917572	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.951135767933911	0.638
18	29497536	G	A	18	31917573	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.953321488974318	0.64
18	29497536	G	C	18	31917573	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.315613846692198	0.302
18	29497536	G	T	18	31917573	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.926311370609836	0.688
18	29497537	A	C	18	31917574	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.662046558874187	0.532
18	29497537	A	G	18	31917574	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.923202443474904	0.794
18	29497537	A	T	18	31917574	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.390394293976145	0.258
18	29497538	T	A	18	31917575	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999954020144015	0.914
18	29497538	T	C	18	31917575	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999528608803944	0.776
18	29497538	T	G	18	31917575	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999909908893757	0.908
18	29497539	A	C	18	31917576	y	y	splicing	TRAPPC8(NM_014939:exon4:c.442+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.442+2T>G;ENST00000580104:exon5:c.442+2T>G;ENST00000582539:exon4:c.280+2T>G;ENST00000582513:exon4:c.442+2T>G;ENST00000578658:exon4:c.367+2T>G)	.	.	0.999914511980801	0.894
18	29497539	A	G	18	31917576	y	y	splicing	TRAPPC8(NM_014939:exon4:c.442+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.442+2T>C;ENST00000580104:exon5:c.442+2T>C;ENST00000582539:exon4:c.280+2T>C;ENST00000582513:exon4:c.442+2T>C;ENST00000578658:exon4:c.367+2T>C)	.	.	0.981175888351232	0.714
18	29497539	A	T	18	31917576	y	y	splicing	TRAPPC8(NM_014939:exon4:c.442+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.442+2T>A;ENST00000580104:exon5:c.442+2T>A;ENST00000582539:exon4:c.280+2T>A;ENST00000582513:exon4:c.442+2T>A;ENST00000578658:exon4:c.367+2T>A)	.	.	0.999914511980801	0.894
18	29497540	C	A	18	31917577	y	y	splicing	TRAPPC8(NM_014939:exon4:c.442+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.442+1G>T;ENST00000580104:exon5:c.442+1G>T;ENST00000582539:exon4:c.280+1G>T;ENST00000582513:exon4:c.442+1G>T;ENST00000578658:exon4:c.367+1G>T)	.	.	0.999980697831002	0.892
18	29497540	C	G	18	31917577	y	y	splicing	TRAPPC8(NM_014939:exon4:c.442+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.442+1G>C;ENST00000580104:exon5:c.442+1G>C;ENST00000582539:exon4:c.280+1G>C;ENST00000582513:exon4:c.442+1G>C;ENST00000578658:exon4:c.367+1G>C)	.	.	0.999980697831002	0.892
18	29497540	C	T	18	31917577	y	y	splicing	TRAPPC8(NM_014939:exon4:c.442+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.442+1G>A;ENST00000580104:exon5:c.442+1G>A;ENST00000582539:exon4:c.280+1G>A;ENST00000582513:exon4:c.442+1G>A;ENST00000578658:exon4:c.367+1G>A)	.	.	0.999980697831002	0.892
18	29497541	A	C	18	31917578	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.T442G:p.C148G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.T367G:p.C123G;ENSG00000153339:ENST00000582539:exon3:c.T280G:p.C94G;ENSG00000153339:ENST00000580104:exon4:c.T442G:p.C148G;ENSG00000153339:ENST00000582513:exon3:c.T442G:p.C148G;ENSG00000153339:ENST00000283351:exon3:c.T442G:p.C148G;	4.14405919110638E-4	0.056
18	29497541	A	G	18	31917578	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.T442C:p.C148R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.T367C:p.C123R;ENSG00000153339:ENST00000582539:exon3:c.T280C:p.C94R;ENSG00000153339:ENST00000580104:exon4:c.T442C:p.C148R;ENSG00000153339:ENST00000582513:exon3:c.T442C:p.C148R;ENSG00000153339:ENST00000283351:exon3:c.T442C:p.C148R;	0.183781330316035	0.272
18	29497541	A	T	18	31917578	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.T442A:p.C148S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.T367A:p.C123S;ENSG00000153339:ENST00000582539:exon3:c.T280A:p.C94S;ENSG00000153339:ENST00000580104:exon4:c.T442A:p.C148S;ENSG00000153339:ENST00000582513:exon3:c.T442A:p.C148S;ENSG00000153339:ENST00000283351:exon3:c.T442A:p.C148S;	0.196250134010371	0.334
18	29497542	T	A	18	31917579	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon3:c.A441T:p.A147A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.A366T:p.A122A;ENSG00000153339:ENST00000582539:exon3:c.A279T:p.A93A;ENSG00000153339:ENST00000580104:exon4:c.A441T:p.A147A;ENSG00000153339:ENST00000582513:exon3:c.A441T:p.A147A;ENSG00000153339:ENST00000283351:exon3:c.A441T:p.A147A;	0.99570179262842	0.85
18	29497542	T	C	18	31917579	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon3:c.A441G:p.A147A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.A366G:p.A122A;ENSG00000153339:ENST00000582539:exon3:c.A279G:p.A93A;ENSG00000153339:ENST00000580104:exon4:c.A441G:p.A147A;ENSG00000153339:ENST00000582513:exon3:c.A441G:p.A147A;ENSG00000153339:ENST00000283351:exon3:c.A441G:p.A147A;	0.999048739128844	0.874
18	29497542	T	G	18	31917579	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon3:c.A441C:p.A147A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.A366C:p.A122A;ENSG00000153339:ENST00000582539:exon3:c.A279C:p.A93A;ENSG00000153339:ENST00000580104:exon4:c.A441C:p.A147A;ENSG00000153339:ENST00000582513:exon3:c.A441C:p.A147A;ENSG00000153339:ENST00000283351:exon3:c.A441C:p.A147A;	0.998966335901123	0.882
18	29497543	G	A	18	31917580	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.C440T:p.A147V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C365T:p.A122V;ENSG00000153339:ENST00000582539:exon3:c.C278T:p.A93V;ENSG00000153339:ENST00000580104:exon4:c.C440T:p.A147V;ENSG00000153339:ENST00000582513:exon3:c.C440T:p.A147V;ENSG00000153339:ENST00000283351:exon3:c.C440T:p.A147V;	0.997662918309992	0.804
18	29497543	G	C	18	31917580	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.C440G:p.A147G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C365G:p.A122G;ENSG00000153339:ENST00000582539:exon3:c.C278G:p.A93G;ENSG00000153339:ENST00000580104:exon4:c.C440G:p.A147G;ENSG00000153339:ENST00000582513:exon3:c.C440G:p.A147G;ENSG00000153339:ENST00000283351:exon3:c.C440G:p.A147G;	0.539813240817016	0.436
18	29497543	G	T	18	31917580	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.C440A:p.A147E;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C365A:p.A122E;ENSG00000153339:ENST00000582539:exon3:c.C278A:p.A93E;ENSG00000153339:ENST00000580104:exon4:c.C440A:p.A147E;ENSG00000153339:ENST00000582513:exon3:c.C440A:p.A147E;ENSG00000153339:ENST00000283351:exon3:c.C440A:p.A147E;	0.287027752714528	0.37
18	29497629	G	A	18	31917666	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon3:c.C354T:p.A118A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C279T:p.A93A;ENSG00000153339:ENST00000582539:exon3:c.C192T:p.A64A;ENSG00000153339:ENST00000580104:exon4:c.C354T:p.A118A;ENSG00000153339:ENST00000582513:exon3:c.C354T:p.A118A;ENSG00000153339:ENST00000283351:exon3:c.C354T:p.A118A;	5.92177065018249E-5	0.072
18	29497629	G	C	18	31917666	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon3:c.C354G:p.A118A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C279G:p.A93A;ENSG00000153339:ENST00000582539:exon3:c.C192G:p.A64A;ENSG00000153339:ENST00000580104:exon4:c.C354G:p.A118A;ENSG00000153339:ENST00000582513:exon3:c.C354G:p.A118A;ENSG00000153339:ENST00000283351:exon3:c.C354G:p.A118A;	2.82295654193708E-5	0.012
18	29497629	G	T	18	31917666	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon3:c.C354A:p.A118A;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C279A:p.A93A;ENSG00000153339:ENST00000582539:exon3:c.C192A:p.A64A;ENSG00000153339:ENST00000580104:exon4:c.C354A:p.A118A;ENSG00000153339:ENST00000582513:exon3:c.C354A:p.A118A;ENSG00000153339:ENST00000283351:exon3:c.C354A:p.A118A;	1.25248773204308E-4	0.012
18	29497630	G	A	18	31917667	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.C353T:p.A118V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C278T:p.A93V;ENSG00000153339:ENST00000582539:exon3:c.C191T:p.A64V;ENSG00000153339:ENST00000580104:exon4:c.C353T:p.A118V;ENSG00000153339:ENST00000582513:exon3:c.C353T:p.A118V;ENSG00000153339:ENST00000283351:exon3:c.C353T:p.A118V;	0.995855087951775	0.834
18	29497630	G	C	18	31917667	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.C353G:p.A118G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C278G:p.A93G;ENSG00000153339:ENST00000582539:exon3:c.C191G:p.A64G;ENSG00000153339:ENST00000580104:exon4:c.C353G:p.A118G;ENSG00000153339:ENST00000582513:exon3:c.C353G:p.A118G;ENSG00000153339:ENST00000283351:exon3:c.C353G:p.A118G;	0.762902369156173	0.518
18	29497630	G	T	18	31917667	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon3:c.C353A:p.A118D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon3:c.C278A:p.A93D;ENSG00000153339:ENST00000582539:exon3:c.C191A:p.A64D;ENSG00000153339:ENST00000580104:exon4:c.C353A:p.A118D;ENSG00000153339:ENST00000582513:exon3:c.C353A:p.A118D;ENSG00000153339:ENST00000283351:exon3:c.C353A:p.A118D;	0.668202412999257	0.612
18	29497631	C	A	18	31917668	y	y	splicing	TRAPPC8(NM_014939:exon4:c.353-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.353-1G>T;ENST00000580104:exon5:c.353-1G>T;ENST00000582539:exon4:c.191-1G>T;ENST00000582513:exon4:c.353-1G>T;ENST00000578658:exon4:c.278-1G>T)	.	.	0.999989125585301	0.944
18	29497631	C	G	18	31917668	y	y	splicing	TRAPPC8(NM_014939:exon4:c.353-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.353-1G>C;ENST00000580104:exon5:c.353-1G>C;ENST00000582539:exon4:c.191-1G>C;ENST00000582513:exon4:c.353-1G>C;ENST00000578658:exon4:c.278-1G>C)	.	.	0.999989125585301	0.944
18	29497631	C	T	18	31917668	y	y	splicing	TRAPPC8(NM_014939:exon4:c.353-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.353-1G>A;ENST00000580104:exon5:c.353-1G>A;ENST00000582539:exon4:c.191-1G>A;ENST00000582513:exon4:c.353-1G>A;ENST00000578658:exon4:c.278-1G>A)	.	.	0.999989125585301	0.944
18	29497632	T	A	18	31917669	y	y	splicing	TRAPPC8(NM_014939:exon4:c.353-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.353-2A>T;ENST00000580104:exon5:c.353-2A>T;ENST00000582539:exon4:c.191-2A>T;ENST00000582513:exon4:c.353-2A>T;ENST00000578658:exon4:c.278-2A>T)	.	.	0.999986741007567	0.944
18	29497632	T	C	18	31917669	y	y	splicing	TRAPPC8(NM_014939:exon4:c.353-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.353-2A>G;ENST00000580104:exon5:c.353-2A>G;ENST00000582539:exon4:c.191-2A>G;ENST00000582513:exon4:c.353-2A>G;ENST00000578658:exon4:c.278-2A>G)	.	.	0.999986741007567	0.944
18	29497632	T	G	18	31917669	y	y	splicing	TRAPPC8(NM_014939:exon4:c.353-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon4:c.353-2A>C;ENST00000580104:exon5:c.353-2A>C;ENST00000582539:exon4:c.191-2A>C;ENST00000582513:exon4:c.353-2A>C;ENST00000578658:exon4:c.278-2A>C)	.	.	0.999986741007567	0.944
18	29497633	A	C	18	31917670	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999220769676467	0.91
18	29497633	A	G	18	31917670	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.17089637570519E-5	0.022
18	29497633	A	T	18	31917670	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.947986256783786	0.59
18	29497634	A	C	18	31917671	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00205997245941954	0.06
18	29497634	A	G	18	31917671	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.93886624788944E-4	0.042
18	29497634	A	T	18	31917671	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0120020638535265	0.15
18	29497635	A	C	18	31917672	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999148909442104	0.966
18	29497635	A	G	18	31917672	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.901653470949446	0.624
18	29497635	A	T	18	31917672	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.998825228321245	0.942
18	29497636	A	C	18	31917673	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999942654354307	0.968
18	29497636	A	G	18	31917673	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.4881118550879	0.518
18	29497636	A	T	18	31917673	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995616805800871	0.866
18	29497637	T	A	18	31917674	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.39629412618696E-5	0.144
18	29497637	T	C	18	31917674	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999291558885443	0.932
18	29497637	T	G	18	31917674	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.17640253853672E-4	0.102
18	29497638	T	A	18	31917675	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.68698247324299E-5	0.178
18	29497638	T	C	18	31917675	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.43382912988761E-4	0.214
18	29497638	T	G	18	31917675	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.05209986737043E-4	0.12
18	29497639	A	C	18	31917676	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999645413354357	0.834
18	29497639	A	G	18	31917676	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.608653647692128	0.412
18	29497639	A	T	18	31917676	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.9991609077486	0.87
18	29497640	A	C	18	31917677	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999697372162556	0.95
18	29497640	A	G	18	31917677	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.262623059288819	0.484
18	29497640	A	T	18	31917677	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999760864673683	0.94
18	29497641	C	A	18	31917678	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.99915363148525E-4	0.476
18	29497641	C	G	18	31917678	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.6856088212971E-4	0.334
18	29497641	C	T	18	31917678	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00201634069905518	0.26
18	29497642	A	C	18	31917679	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.978697307239712	0.84
18	29497642	A	G	18	31917679	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0242895799080797	0.202
18	29497642	A	T	18	31917679	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999990359571071	0.976
18	29511284	T	A	18	31931321	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.154314199899029	0.248
18	29511284	T	C	18	31931321	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0933648154759605	0.138
18	29511284	T	G	18	31931321	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0583605792194595	0.16
18	29511285	T	A	18	31931322	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.35893772008082E-4	0.09
18	29511285	T	C	18	31931322	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.2233386190959E-4	0.04
18	29511285	T	G	18	31931322	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.10365278098568E-4	0.002
18	29511286	A	C	18	31931323	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.99496034996903	0.898
18	29511286	A	G	18	31931323	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.993263303490912	0.792
18	29511286	A	T	18	31931323	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.995163673337168	0.752
18	29511287	C	A	18	31931324	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999943114547283	0.98
18	29511287	C	G	18	31931324	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999986827894857	0.978
18	29511287	C	T	18	31931324	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999983010831683	0.998
18	29511288	A	C	18	31931325	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.54294232717182E-4	0.03
18	29511288	A	G	18	31931325	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00988644457345338	0.112
18	29511288	A	T	18	31931325	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	9.22562722516699E-4	0.066
18	29511289	T	A	18	31931326	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999574053525855	0.93
18	29511289	T	C	18	31931326	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999107312960315	0.954
18	29511289	T	G	18	31931326	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.999901586257722	0.954
18	29511290	A	C	18	31931327	y	y	splicing	TRAPPC8(NM_014939:exon3:c.352+2T>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.352+2T>G;ENST00000580104:exon4:c.352+2T>G;ENST00000582539:exon3:c.190+2T>G;ENST00000582513:exon3:c.352+2T>G;ENST00000578658:exon3:c.277+2T>G)	.	.	0.999988247793601	0.93
18	29511290	A	G	18	31931327	y	y	splicing	TRAPPC8(NM_014939:exon3:c.352+2T>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.352+2T>C;ENST00000580104:exon4:c.352+2T>C;ENST00000582539:exon3:c.190+2T>C;ENST00000582513:exon3:c.352+2T>C;ENST00000578658:exon3:c.277+2T>C)	.	.	0.996218475494576	0.708
18	29511290	A	T	18	31931327	y	y	splicing	TRAPPC8(NM_014939:exon3:c.352+2T>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.352+2T>A;ENST00000580104:exon4:c.352+2T>A;ENST00000582539:exon3:c.190+2T>A;ENST00000582513:exon3:c.352+2T>A;ENST00000578658:exon3:c.277+2T>A)	.	.	0.999988247793601	0.93
18	29511291	C	A	18	31931328	y	y	splicing	TRAPPC8(NM_014939:exon3:c.352+1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.352+1G>T;ENST00000580104:exon4:c.352+1G>T;ENST00000582539:exon3:c.190+1G>T;ENST00000582513:exon3:c.352+1G>T;ENST00000578658:exon3:c.277+1G>T)	.	.	0.999989072007339	0.934
18	29511291	C	G	18	31931328	y	y	splicing	TRAPPC8(NM_014939:exon3:c.352+1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.352+1G>C;ENST00000580104:exon4:c.352+1G>C;ENST00000582539:exon3:c.190+1G>C;ENST00000582513:exon3:c.352+1G>C;ENST00000578658:exon3:c.277+1G>C)	.	.	0.999989072007339	0.934
18	29511291	C	T	18	31931328	y	y	splicing	TRAPPC8(NM_014939:exon3:c.352+1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.352+1G>A;ENST00000580104:exon4:c.352+1G>A;ENST00000582539:exon3:c.190+1G>A;ENST00000582513:exon3:c.352+1G>A;ENST00000578658:exon3:c.277+1G>A)	.	.	0.999989072007339	0.934
18	29511292	C	A	18	31931329	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.G352T:p.A118S;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.G277T:p.A93S;ENSG00000153339:ENST00000582539:exon2:c.G190T:p.A64S;ENSG00000153339:ENST00000580104:exon3:c.G352T:p.A118S;ENSG00000153339:ENST00000582513:exon2:c.G352T:p.A118S;ENSG00000153339:ENST00000283351:exon2:c.G352T:p.A118S;	0.999974082183275	0.998
18	29511292	C	G	18	31931329	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.G352C:p.A118P;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.G277C:p.A93P;ENSG00000153339:ENST00000582539:exon2:c.G190C:p.A64P;ENSG00000153339:ENST00000580104:exon3:c.G352C:p.A118P;ENSG00000153339:ENST00000582513:exon2:c.G352C:p.A118P;ENSG00000153339:ENST00000283351:exon2:c.G352C:p.A118P;	0.999989829535615	0.974
18	29511292	C	T	18	31931329	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.G352A:p.A118T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.G277A:p.A93T;ENSG00000153339:ENST00000582539:exon2:c.G190A:p.A64T;ENSG00000153339:ENST00000580104:exon3:c.G352A:p.A118T;ENSG00000153339:ENST00000582513:exon2:c.G352A:p.A118T;ENSG00000153339:ENST00000283351:exon2:c.G352A:p.A118T;	0.999988602799775	0.998
18	29511293	A	C	18	31931330	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.T351G:p.S117R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T276G:p.S92R;ENSG00000153339:ENST00000582539:exon2:c.T189G:p.S63R;ENSG00000153339:ENST00000580104:exon3:c.T351G:p.S117R;ENSG00000153339:ENST00000582513:exon2:c.T351G:p.S117R;ENSG00000153339:ENST00000283351:exon2:c.T351G:p.S117R;	0.022042809086832	0.204
18	29511293	A	G	18	31931330	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon2:c.T351C:p.S117S;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T276C:p.S92S;ENSG00000153339:ENST00000582539:exon2:c.T189C:p.S63S;ENSG00000153339:ENST00000580104:exon3:c.T351C:p.S117S;ENSG00000153339:ENST00000582513:exon2:c.T351C:p.S117S;ENSG00000153339:ENST00000283351:exon2:c.T351C:p.S117S;	0.134414412882223	0.232
18	29511293	A	T	18	31931330	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.T351A:p.S117R;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T276A:p.S92R;ENSG00000153339:ENST00000582539:exon2:c.T189A:p.S63R;ENSG00000153339:ENST00000580104:exon3:c.T351A:p.S117R;ENSG00000153339:ENST00000582513:exon2:c.T351A:p.S117R;ENSG00000153339:ENST00000283351:exon2:c.T351A:p.S117R;	0.0018888953891535	0.172
18	29511294	C	A	18	31931331	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.G350T:p.S117I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.G275T:p.S92I;ENSG00000153339:ENST00000582539:exon2:c.G188T:p.S63I;ENSG00000153339:ENST00000580104:exon3:c.G350T:p.S117I;ENSG00000153339:ENST00000582513:exon2:c.G350T:p.S117I;ENSG00000153339:ENST00000283351:exon2:c.G350T:p.S117I;	0.495676101890167	0.414
18	29511294	C	G	18	31931331	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.G350C:p.S117T;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.G275C:p.S92T;ENSG00000153339:ENST00000582539:exon2:c.G188C:p.S63T;ENSG00000153339:ENST00000580104:exon3:c.G350C:p.S117T;ENSG00000153339:ENST00000582513:exon2:c.G350C:p.S117T;ENSG00000153339:ENST00000283351:exon2:c.G350C:p.S117T;	0.00873893417134183	0.124
18	29511294	C	T	18	31931331	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.G350A:p.S117N;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.G275A:p.S92N;ENSG00000153339:ENST00000582539:exon2:c.G188A:p.S63N;ENSG00000153339:ENST00000580104:exon3:c.G350A:p.S117N;ENSG00000153339:ENST00000582513:exon2:c.G350A:p.S117N;ENSG00000153339:ENST00000283351:exon2:c.G350A:p.S117N;	0.220998040963295	0.496
18	29511485	A	C	18	31931522	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon2:c.T159G:p.V53V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T84G:p.F28L;	0.140848487195163	0.282
18	29511485	A	G	18	31931522	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon2:c.T159C:p.V53V;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T84C:p.F28F;ENSG00000153339:ENST00000580104:exon3:c.T159C:p.V53V;ENSG00000153339:ENST00000582513:exon2:c.T159C:p.V53V;ENSG00000153339:ENST00000283351:exon2:c.T159C:p.V53V;	0.140848487195163	0.316
18	29511485	A	T	18	31931522	y	y	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon2:c.T159A:p.V53V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T84A:p.F28L;	0.293182013970356	0.374
18	29511486	A	C	18	31931523	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.T158G:p.V53G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T83G:p.F28C;ENSG00000153339:ENST00000580104:exon3:c.T158G:p.V53G;ENSG00000153339:ENST00000582513:exon2:c.T158G:p.V53G;ENSG00000153339:ENST00000283351:exon2:c.T158G:p.V53G;	0.0045164291063652	0.044
18	29511486	A	G	18	31931523	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.T158C:p.V53A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T83C:p.F28S;ENSG00000153339:ENST00000580104:exon3:c.T158C:p.V53A;ENSG00000153339:ENST00000582513:exon2:c.T158C:p.V53A;ENSG00000153339:ENST00000283351:exon2:c.T158C:p.V53A;	0.014958107566029	0.046
18	29511486	A	T	18	31931523	y	y	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon2:c.T158A:p.V53D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon2:c.T83A:p.F28Y;ENSG00000153339:ENST00000580104:exon3:c.T158A:p.V53D;ENSG00000153339:ENST00000582513:exon2:c.T158A:p.V53D;ENSG00000153339:ENST00000283351:exon2:c.T158A:p.V53D;	0.00214466211236105	0.016
18	29511487	C	A	18	31931524	y	y	splicing	TRAPPC8(NM_014939:exon3:c.158-1G>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.158-1G>T;ENST00000580104:exon4:c.158-1G>T;ENST00000582513:exon3:c.158-1G>T;ENST00000578658:exon3:c.83-1G>T)	.	.	0.999989072007339	0.932
18	29511487	C	G	18	31931524	y	y	splicing	TRAPPC8(NM_014939:exon3:c.158-1G>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.158-1G>C;ENST00000580104:exon4:c.158-1G>C;ENST00000582513:exon3:c.158-1G>C;ENST00000578658:exon3:c.83-1G>C)	.	.	0.999989072007339	0.932
18	29511487	C	T	18	31931524	y	y	splicing	TRAPPC8(NM_014939:exon3:c.158-1G>A)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.158-1G>A;ENST00000580104:exon4:c.158-1G>A;ENST00000582513:exon3:c.158-1G>A;ENST00000578658:exon3:c.83-1G>A)	.	.	0.999989072007339	0.932
18	29511488	T	A	18	31931525	y	y	splicing	TRAPPC8(NM_014939:exon3:c.158-2A>T)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.158-2A>T;ENST00000580104:exon4:c.158-2A>T;ENST00000582513:exon3:c.158-2A>T;ENST00000578658:exon3:c.83-2A>T)	.	.	0.999988247793601	0.928
18	29511488	T	C	18	31931525	y	y	splicing	TRAPPC8(NM_014939:exon3:c.158-2A>G)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.158-2A>G;ENST00000580104:exon4:c.158-2A>G;ENST00000582513:exon3:c.158-2A>G;ENST00000578658:exon3:c.83-2A>G)	.	.	0.999988247793601	0.928
18	29511488	T	G	18	31931525	y	y	splicing	TRAPPC8(NM_014939:exon3:c.158-2A>C)	.	.	splicing	ENSG00000153339(ENST00000283351:exon3:c.158-2A>C;ENST00000580104:exon4:c.158-2A>C;ENST00000582513:exon3:c.158-2A>C;ENST00000578658:exon3:c.83-2A>C)	.	.	0.999988247793601	0.928
18	29511489	T	A	18	31931526	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.11016250012153E-4	0.004
18	29511489	T	C	18	31931526	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.441525154573639	0.302
18	29511489	T	G	18	31931526	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.64189538258864E-4	0.046
18	29511490	T	A	18	31931527	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.42324516347105E-4	0.016
18	29511490	T	C	18	31931527	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.23608209186591E-4	0.014
18	29511490	T	G	18	31931527	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.52564481790677E-4	0.0
18	29511491	A	C	18	31931528	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00611968167386813	0.068
18	29511491	A	G	18	31931528	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.53845166513483E-4	0.01
18	29511491	A	T	18	31931528	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00280827368164151	0.06
18	29511492	A	C	18	31931529	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00790396334320254	0.112
18	29511492	A	G	18	31931529	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.50224508255984E-4	0.012
18	29511492	A	T	18	31931529	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00772637147870407	0.11
18	29511493	A	C	18	31931530	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00607719131663149	0.146
18	29511493	A	G	18	31931530	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00207099508316599	0.02
18	29511493	A	T	18	31931530	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0107294614947341	0.13
18	29511494	G	A	18	31931531	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.25645543207299E-5	0.0
18	29511494	G	C	18	31931531	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.69526127474299E-4	0.038
18	29511494	G	T	18	31931531	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.0930222920262E-4	0.016
18	29511495	A	C	18	31931532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00199197157646626	0.112
18	29511495	A	G	18	31931532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.65056171081512E-4	0.044
18	29511495	A	T	18	31931532	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00168340852771842	0.076
18	29511496	A	C	18	31931533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.22755107515316E-4	0.098
18	29511496	A	G	18	31931533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.1705721638618E-4	0.012
18	29511496	A	T	18	31931533	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.0012084147197445	0.086
18	29511497	A	C	18	31931534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	8.51378449925648E-4	0.128
18	29511497	A	G	18	31931534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.63300620790439E-4	0.074
18	29511497	A	T	18	31931534	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.23375018606985E-4	0.214
18	29511498	A	C	18	31931535	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	0.00103529991082422	0.078
18	29511498	A	G	18	31931535	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.13682887489053E-4	0.074
18	29511498	A	T	18	31931535	y	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.88220637009126E-5	0.11
18	29519336	C	A	18	31939373	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.68952365742707E-5	0.006
18	29519336	C	G	18	31939373	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	4.68952365742707E-5	0.006
18	29519336	C	T	18	31939373	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	3.88563338073588E-5	0.006
18	29519337	T	A	18	31939374	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.91564032431422E-5	0.0
18	29519337	T	C	18	31939374	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.67535614375061E-5	0.0
18	29519337	T	G	18	31939374	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	6.67535614375061E-5	0.0
18	29519338	A	C	18	31939375	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.15941453541388E-5	0.014
18	29519338	A	G	18	31939375	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.15941453541388E-5	0.014
18	29519338	A	T	18	31939375	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	5.15941453541388E-5	0.004
18	29519339	C	A	18	31939376	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.46004206284423E-5	0.0
18	29519339	C	G	18	31939376	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.46004206284423E-5	0.0
18	29519339	C	T	18	31939376	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	1.46004206284423E-5	0.0
18	29519340	T	A	18	31939377	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.89287879850736E-5	0.004
18	29519340	T	C	18	31939377	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.89287879850736E-5	0.002
18	29519340	T	G	18	31939377	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	7.89287879850736E-5	0.002
18	29519341	C	A	18	31939378	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.1548255067557E-5	0.0
18	29519341	C	G	18	31939378	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.1548255067557E-5	0.0
18	29519341	C	T	18	31939378	n	y	intronic	TRAPPC8	.	.	intronic	ENSG00000153339	.	.	2.1548255067557E-5	0.0
18	29519342	A	C	18	31939379	n	y	intronic	TRAPPC8	.	.	splicing	ENSG00000153339(ENST00000578658:exon2:c.82+2T>G)	.	.	2.11572536392484E-5	0.004
18	29519342	A	G	18	31939379	n	y	intronic	TRAPPC8	.	.	splicing	ENSG00000153339(ENST00000578658:exon2:c.82+2T>C)	.	.	1.01559384236425E-5	0.004
18	29519342	A	T	18	31939379	n	y	intronic	TRAPPC8	.	.	splicing	ENSG00000153339(ENST00000578658:exon2:c.82+2T>A)	.	.	2.41069364790736E-5	0.006
18	29519343	C	A	18	31939380	n	y	intronic	TRAPPC8	.	.	splicing	ENSG00000153339(ENST00000578658:exon2:c.82+1G>T)	.	.	3.03359245426808E-5	0.008
18	29519343	C	G	18	31939380	n	y	intronic	TRAPPC8	.	.	splicing	ENSG00000153339(ENST00000578658:exon2:c.82+1G>C)	.	.	3.03359245426808E-5	0.008
18	29519343	C	T	18	31939380	n	y	intronic	TRAPPC8	.	.	splicing	ENSG00000153339(ENST00000578658:exon2:c.82+1G>A)	.	.	3.03359245426808E-5	0.008
18	29519344	A	C	18	31939381	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.T82G:p.F28V;	2.05567792764038E-5	0.0
18	29519344	A	G	18	31939381	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.T82C:p.F28L;	3.951189346585E-5	0.0
18	29519344	A	T	18	31939381	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.T82A:p.F28I;	3.951189346585E-5	0.0
18	29519345	T	A	18	31939382	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.A81T:p.K27N;	5.58255349957421E-5	0.0
18	29519345	T	C	18	31939382	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.A81G:p.K27K;	2.25524929795369E-5	0.0
18	29519345	T	G	18	31939382	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.A81C:p.K27N;	5.58255349957421E-5	0.0
18	29519346	T	A	18	31939383	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.A80T:p.K27I;	3.15267776820636E-5	0.0
18	29519346	T	C	18	31939383	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.A80G:p.K27R;	3.15267776820636E-5	0.0
18	29519346	T	G	18	31939383	n	y	intronic	TRAPPC8	.	.	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000578658:exon1:c.A80C:p.K27T;	6.91564032431422E-5	0.0
18	29522563	C	A	18	31942600	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.0109715546382307	0.072
18	29522563	C	G	18	31942600	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.00546527315501511	0.052
18	29522563	C	T	18	31942600	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.0140398304584105	0.09
18	29522564	C	A	18	31942601	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.390050783377154	0.322
18	29522564	C	G	18	31942601	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.578592384731317	0.446
18	29522564	C	T	18	31942601	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.642915702263977	0.496
18	29522565	A	C	18	31942602	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.941293634050463	0.552
18	29522565	A	G	18	31942602	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.942155916947133	0.554
18	29522565	A	T	18	31942602	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.959744619533479	0.614
18	29522566	C	A	18	31942603	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999971411512637	0.954
18	29522566	C	G	18	31942603	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999977834609923	0.99
18	29522566	C	T	18	31942603	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999979569788704	0.96
18	29522567	A	C	18	31942604	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	6.58034844683287E-5	0.114
18	29522567	A	G	18	31942604	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	1.12231790082731E-4	0.088
18	29522567	A	T	18	31942604	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	1.49853108518517E-4	0.186
18	29522568	T	A	18	31942605	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999875544409367	0.94
18	29522568	T	C	18	31942605	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999867978316356	0.966
18	29522568	T	G	18	31942605	y	n	intronic	TRAPPC8	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999970659106553	0.9
18	29522569	A	C	18	31942606	y	n	splicing	TRAPPC8(NM_014939:exon2:c.157+2T>G)	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999992446697775	0.934
18	29522569	A	G	18	31942606	y	n	splicing	TRAPPC8(NM_014939:exon2:c.157+2T>C)	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.993808943985639	0.666
18	29522569	A	T	18	31942606	y	n	splicing	TRAPPC8(NM_014939:exon2:c.157+2T>A)	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999992446697775	0.934
18	29522570	C	A	18	31942607	y	n	splicing	TRAPPC8(NM_014939:exon2:c.157+1G>T)	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999990361384395	0.928
18	29522570	C	G	18	31942607	y	n	splicing	TRAPPC8(NM_014939:exon2:c.157+1G>C)	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999990361384395	0.928
18	29522570	C	T	18	31942607	y	n	splicing	TRAPPC8(NM_014939:exon2:c.157+1G>A)	.	.	ncRNA_exonic	ENSG00000263823	.	.	0.999990361384395	0.928
18	29522571	C	A	18	31942608	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon1:c.G157T:p.V53F;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.G157T:p.V53F;ENSG00000153339:ENST00000582513:exon1:c.G157T:p.V53F;ENSG00000153339:ENST00000283351:exon1:c.G157T:p.V53F;	0.999983873053356	0.998
18	29522571	C	G	18	31942608	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon1:c.G157C:p.V53L;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.G157C:p.V53L;ENSG00000153339:ENST00000582513:exon1:c.G157C:p.V53L;ENSG00000153339:ENST00000283351:exon1:c.G157C:p.V53L;	0.999993468463723	0.962
18	29522571	C	T	18	31942608	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon1:c.G157A:p.V53I;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.G157A:p.V53I;ENSG00000153339:ENST00000582513:exon1:c.G157A:p.V53I;ENSG00000153339:ENST00000283351:exon1:c.G157A:p.V53I;	0.999976350627409	0.988
18	29522572	C	A	18	31942609	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon1:c.G156T:p.E52D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.G156T:p.E52D;ENSG00000153339:ENST00000582513:exon1:c.G156T:p.E52D;ENSG00000153339:ENST00000283351:exon1:c.G156T:p.E52D;	0.565749731578467	0.352
18	29522572	C	G	18	31942609	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon1:c.G156C:p.E52D;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.G156C:p.E52D;ENSG00000153339:ENST00000582513:exon1:c.G156C:p.E52D;ENSG00000153339:ENST00000283351:exon1:c.G156C:p.E52D;	0.641516262081609	0.528
18	29522572	C	T	18	31942609	y	n	exonic	TRAPPC8	synonymous SNV	TRAPPC8:NM_014939:exon1:c.G156A:p.E52E;	exonic	ENSG00000153339	synonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.G156A:p.E52E;ENSG00000153339:ENST00000582513:exon1:c.G156A:p.E52E;ENSG00000153339:ENST00000283351:exon1:c.G156A:p.E52E;	0.231993673235475	0.43
18	29522573	T	A	18	31942610	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon1:c.A155T:p.E52V;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.A155T:p.E52V;ENSG00000153339:ENST00000582513:exon1:c.A155T:p.E52V;ENSG00000153339:ENST00000283351:exon1:c.A155T:p.E52V;	0.992574645528387	0.636
18	29522573	T	C	18	31942610	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon1:c.A155G:p.E52G;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.A155G:p.E52G;ENSG00000153339:ENST00000582513:exon1:c.A155G:p.E52G;ENSG00000153339:ENST00000283351:exon1:c.A155G:p.E52G;	0.803606514048807	0.33
18	29522573	T	G	18	31942610	y	n	exonic	TRAPPC8	nonsynonymous SNV	TRAPPC8:NM_014939:exon1:c.A155C:p.E52A;	exonic	ENSG00000153339	nonsynonymous SNV	ENSG00000153339:ENST00000580104:exon2:c.A155C:p.E52A;ENSG00000153339:ENST00000582513:exon1:c.A155C:p.E52A;ENSG00000153339:ENST00000283351:exon1:c.A155C:p.E52A;	0.95032563573024	0.456
18	29598988	C	A	18	32019025	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon1:c.C162A:p.H54Q;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.C162A:p.H54Q;	0.701392951628395	0.738
18	29598988	C	G	18	32019025	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon1:c.C162G:p.H54Q;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.C162G:p.H54Q;	0.50912111594306	0.53
18	29598988	C	T	18	32019025	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon1:c.C162T:p.H54H;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.C162T:p.H54H;	0.992672592484443	0.8
18	29598989	G	A	18	32019026	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon1:c.G163A:p.V55I;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.G163A:p.V55I;	0.0414566971773938	0.36
18	29598989	G	C	18	32019026	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon1:c.G163C:p.V55L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.G163C:p.V55L;	0.0196503014219167	0.188
18	29598989	G	T	18	32019026	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon1:c.G163T:p.V55L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.G163T:p.V55L;	0.0222328818086414	0.234
18	29598990	T	A	18	32019027	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon1:c.T164A:p.V55E;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.T164A:p.V55E;	0.724240500249863	0.78
18	29598990	T	C	18	32019027	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon1:c.T164C:p.V55A;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.T164C:p.V55A;	0.843591472119633	0.79
18	29598990	T	G	18	32019027	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon1:c.T164G:p.V55G;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon1:c.T164G:p.V55G;	0.499027669338495	0.428
18	29598991	G	A	18	32019028	y	y	splicing	RNF125(NM_017831:exon1:c.164+1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon1:c.164+1G>A)	.	.	0.999988247793601	0.93
18	29598991	G	C	18	32019028	y	y	splicing	RNF125(NM_017831:exon1:c.164+1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon1:c.164+1G>C)	.	.	0.999988247793601	0.93
18	29598991	G	T	18	32019028	y	y	splicing	RNF125(NM_017831:exon1:c.164+1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon1:c.164+1G>T)	.	.	0.999988247793601	0.93
18	29598992	T	A	18	32019029	y	y	splicing	RNF125(NM_017831:exon1:c.164+2T>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon1:c.164+2T>A)	.	.	0.999993672935256	0.928
18	29598992	T	C	18	32019029	y	y	splicing	RNF125(NM_017831:exon1:c.164+2T>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon1:c.164+2T>C)	.	.	0.989732985218383	0.596
18	29598992	T	G	18	32019029	y	y	splicing	RNF125(NM_017831:exon1:c.164+2T>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon1:c.164+2T>G)	.	.	0.999993672935256	0.928
18	29598993	A	C	18	32019030	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999615089450606	0.816
18	29598993	A	G	18	32019030	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00521840705346465	0.268
18	29598993	A	T	18	32019030	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999563887608149	0.826
18	29598994	A	C	18	32019031	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999674921897042	0.92
18	29598994	A	G	18	32019031	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999812092403847	0.94
18	29598994	A	T	18	32019031	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999538287249281	0.95
18	29598995	G	A	18	32019032	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999991144421687	1.0
18	29598995	G	C	18	32019032	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999984128630531	0.982
18	29598995	G	T	18	32019032	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999985013166878	0.986
18	29598996	T	A	18	32019033	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.997483923527196	0.732
18	29598996	T	C	18	32019033	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.99787899190492	0.704
18	29598996	T	G	18	32019033	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.996410250966536	0.86
18	29598997	T	A	18	32019034	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.39852809531543E-4	0.002
18	29598997	T	C	18	32019034	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.6197948697297E-4	0.006
18	29598997	T	G	18	32019034	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.6197948697297E-4	0.01
18	29598998	C	A	18	32019035	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.62257522870126E-4	0.004
18	29598998	C	G	18	32019035	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.96389466873634E-4	0.002
18	29598998	C	T	18	32019035	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.43165207983103E-4	0.0
18	29617067	T	A	18	32037104	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999747787617086	0.956
18	29617067	T	C	18	32037104	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.21270149123769E-4	0.082
18	29617067	T	G	18	32037104	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.761959014297963	0.646
18	29617068	G	A	18	32037105	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.80864463247468E-4	0.062
18	29617068	G	C	18	32037105	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.87538973592049E-5	0.028
18	29617068	G	T	18	32037105	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.0966710467493E-4	0.128
18	29617069	T	A	18	32037106	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.858825564424814	0.638
18	29617069	T	C	18	32037106	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00327515458391492	0.162
18	29617069	T	G	18	32037106	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.445868593613897	0.604
18	29617070	T	A	18	32037107	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0212642076697066	0.45
18	29617070	T	C	18	32037107	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.48570786386862E-5	0.06
18	29617070	T	G	18	32037107	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0133207214307171	0.35
18	29617071	T	A	18	32037108	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.998451393487293	0.982
18	29617071	T	C	18	32037108	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.67161599994787E-5	0.01
18	29617071	T	G	18	32037108	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	4.01094743214287E-4	0.13
18	29617072	G	A	18	32037109	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.706537958753343	0.454
18	29617072	G	C	18	32037109	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.53709859914005E-5	0.12
18	29617072	G	T	18	32037109	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.53709859914005E-5	0.2
18	29617073	G	A	18	32037110	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.99100449281614	0.964
18	29617073	G	C	18	32037110	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	4.36553440843392E-5	0.15
18	29617073	G	T	18	32037110	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.10042643817238E-5	0.048
18	29617074	G	A	18	32037111	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.985349088161358	0.958
18	29617074	G	C	18	32037111	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.71871866966448E-5	0.0
18	29617074	G	T	18	32037111	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.84385639265841E-5	0.018
18	29617075	G	A	18	32037112	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.19921624993831E-5	0.004
18	29617075	G	C	18	32037112	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.09740216807318E-6	0.002
18	29617075	G	T	18	32037112	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.81104709051921E-5	0.004
18	29617076	T	A	18	32037113	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.243966399909013	0.38
18	29617076	T	C	18	32037113	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.70893363998873E-5	0.022
18	29617076	T	G	18	32037113	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.920965095661377	0.546
18	29617077	A	C	18	32037114	y	y	splicing	RNF125(NM_017831:exon2:c.165-2A>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.165-2A>C)	.	.	0.999954785339841	0.89
18	29617077	A	G	18	32037114	y	y	splicing	RNF125(NM_017831:exon2:c.165-2A>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.165-2A>G)	.	.	0.999954785339841	0.892
18	29617077	A	T	18	32037114	y	y	splicing	RNF125(NM_017831:exon2:c.165-2A>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.165-2A>T)	.	.	0.999943723394179	0.89
18	29617078	G	A	18	32037115	y	y	splicing	RNF125(NM_017831:exon2:c.165-1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.165-1G>A)	.	.	0.999974634749143	0.898
18	29617078	G	C	18	32037115	y	y	splicing	RNF125(NM_017831:exon2:c.165-1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.165-1G>C)	.	.	0.999961358400488	0.894
18	29617078	G	T	18	32037115	y	y	splicing	RNF125(NM_017831:exon2:c.165-1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.165-1G>T)	.	.	0.999974634749143	0.898
18	29617079	A	C	18	32037116	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon2:c.A165C:p.V55V;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.A165C:p.V55V;	5.9336869921821E-4	0.062
18	29617079	A	G	18	32037116	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon2:c.A165G:p.V55V;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.A165G:p.V55V;	4.7438394674264E-5	0.038
18	29617079	A	T	18	32037116	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon2:c.A165T:p.V55V;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.A165T:p.V55V;	7.37169359037416E-4	0.048
18	29617080	T	A	18	32037117	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon2:c.T166A:p.F56I;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.T166A:p.F56I;	0.33294831715872	0.508
18	29617080	T	C	18	32037117	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon2:c.T166C:p.F56L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.T166C:p.F56L;	0.294912610486739	0.516
18	29617080	T	G	18	32037117	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon2:c.T166G:p.F56V;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.T166G:p.F56V;	0.401435778649097	0.49
18	29617230	C	A	18	32037267	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon2:c.C316A:p.L106M;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.C316A:p.L106M;	1.55812980898837E-4	0.036
18	29617230	C	G	18	32037267	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon2:c.C316G:p.L106V;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.C316G:p.L106V;	8.86173319596718E-4	0.044
18	29617230	C	T	18	32037267	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon2:c.C316T:p.L106L;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.C316T:p.L106L;	0.025921037846836	0.19
18	29617231	T	A	18	32037268	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon2:c.T317A:p.L106Q;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.T317A:p.L106Q;	1.83160245647765E-4	0.164
18	29617231	T	C	18	32037268	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon2:c.T317C:p.L106P;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.T317C:p.L106P;	3.16179083949565E-4	0.014
18	29617231	T	G	18	32037268	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon2:c.T317G:p.L106R;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.T317G:p.L106R;	4.12811060962675E-4	0.042
18	29617232	G	A	18	32037269	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon2:c.G318A:p.L106L;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.G318A:p.L106L;	0.999986547332697	0.99
18	29617232	G	C	18	32037269	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon2:c.G318C:p.L106L;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.G318C:p.L106L;	0.999993292045615	0.984
18	29617232	G	T	18	32037269	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon2:c.G318T:p.L106L;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon2:c.G318T:p.L106L;	0.999974797564608	0.992
18	29617233	G	A	18	32037270	y	y	splicing	RNF125(NM_017831:exon2:c.318+1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.318+1G>A;ENST00000580209:exon1:c.85+1G>A)	.	.	0.999981599414791	0.792
18	29617233	G	C	18	32037270	y	y	splicing	RNF125(NM_017831:exon2:c.318+1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.318+1G>C;ENST00000580209:exon1:c.85+1G>C)	.	.	0.999977830371992	0.76
18	29617233	G	T	18	32037270	y	y	splicing	RNF125(NM_017831:exon2:c.318+1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.318+1G>T;ENST00000580209:exon1:c.85+1G>T)	.	.	0.999977830371992	0.788
18	29617234	T	A	18	32037271	y	y	splicing	RNF125(NM_017831:exon2:c.318+2T>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.318+2T>A;ENST00000580209:exon1:c.85+2T>A)	.	.	0.999983334580199	0.8
18	29617234	T	C	18	32037271	y	y	splicing	RNF125(NM_017831:exon2:c.318+2T>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.318+2T>C;ENST00000580209:exon1:c.85+2T>C)	.	.	0.805785857767106	0.508
18	29617234	T	G	18	32037271	y	y	splicing	RNF125(NM_017831:exon2:c.318+2T>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon2:c.318+2T>G;ENST00000580209:exon1:c.85+2T>G)	.	.	0.999981599414791	0.806
18	29617235	A	C	18	32037272	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.997370218063254	0.85
18	29617235	A	G	18	32037272	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.866165024547027	0.598
18	29617235	A	T	18	32037272	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.996299965239159	0.776
18	29617236	T	A	18	32037273	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.34414533535447E-4	0.102
18	29617236	T	C	18	32037273	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.83688511310955E-4	0.016
18	29617236	T	G	18	32037273	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.64419522191706E-4	0.0
18	29617237	G	A	18	32037274	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999877491993899	0.986
18	29617237	G	C	18	32037274	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999988413848571	0.974
18	29617237	G	T	18	32037274	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999962036026427	0.976
18	29617238	T	A	18	32037275	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.622311845879976	0.536
18	29617238	T	C	18	32037275	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.260219619851355	0.364
18	29617238	T	G	18	32037275	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0647707026392142	0.4
18	29617239	A	C	18	32037276	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.96160844311781E-4	0.012
18	29617239	A	G	18	32037276	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00132813824192172	0.01
18	29617239	A	T	18	32037276	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	4.14107683204039E-4	0.106
18	29617240	T	A	18	32037277	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.42327537962695E-4	0.008
18	29617240	T	C	18	32037277	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.17956410444024E-4	0.012
18	29617240	T	G	18	32037277	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00160578911364703	0.206
18	29622130	G	A	18	32042167	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00151520613049686	0.022
18	29622130	G	C	18	32042167	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	4.53928699177619E-4	0.002
18	29622130	G	T	18	32042167	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.51819123079669E-4	0.002
18	29622131	T	A	18	32042168	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.307086857984989	0.372
18	29622131	T	C	18	32042168	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.86143131498966E-4	0.048
18	29622131	T	G	18	32042168	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0921006998433618	0.324
18	29622132	T	A	18	32042169	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.532642145733909	0.556
18	29622132	T	C	18	32042169	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.36490926586286E-4	0.03
18	29622132	T	G	18	32042169	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.271515976325192	0.366
18	29622133	T	A	18	32042170	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.997282453780463	0.714
18	29622133	T	C	18	32042170	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.110429263486578	0.304
18	29622133	T	G	18	32042170	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.994722938019154	0.71
18	29622134	T	A	18	32042171	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0578641269135599	0.304
18	29622134	T	C	18	32042171	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	4.56206121225875E-4	0.008
18	29622134	T	G	18	32042171	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0140645984910443	0.22
18	29622135	T	A	18	32042172	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00827915703018748	0.13
18	29622135	T	C	18	32042172	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.22594716758575E-5	0.0
18	29622135	T	G	18	32042172	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.77423226728604E-4	0.078
18	29622136	A	C	18	32042173	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.44433337318727E-6	0.0
18	29622136	A	G	18	32042173	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.23986773567894E-5	0.0
18	29622136	A	T	18	32042173	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.58439536247453E-5	0.004
18	29622137	T	A	18	32042174	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.994159004722352	0.794
18	29622137	T	C	18	32042174	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00359644760527316	0.026
18	29622137	T	G	18	32042174	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999666766847486	0.93
18	29622138	G	A	18	32042175	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.5425649165431E-5	0.0
18	29622138	G	C	18	32042175	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.55134678214908E-5	0.0
18	29622138	G	T	18	32042175	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.86124589982029E-5	0.0
18	29622139	T	A	18	32042176	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0162889159644659	0.272
18	29622139	T	C	18	32042176	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.74808167870743E-4	0.008
18	29622139	T	G	18	32042176	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.99910773902473	0.722
18	29622140	A	C	18	32042177	y	y	splicing	RNF125(NM_017831:exon3:c.319-2A>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.319-2A>C)	.	.	0.999988247793601	0.924
18	29622140	A	G	18	32042177	y	y	splicing	RNF125(NM_017831:exon3:c.319-2A>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.319-2A>G)	.	.	0.999988247793601	0.924
18	29622140	A	T	18	32042177	y	y	splicing	RNF125(NM_017831:exon3:c.319-2A>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.319-2A>T)	.	.	0.999988247793601	0.924
18	29622141	G	A	18	32042178	y	y	splicing	RNF125(NM_017831:exon3:c.319-1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.319-1G>A)	.	.	0.999986675681007	0.93
18	29622141	G	C	18	32042178	y	y	splicing	RNF125(NM_017831:exon3:c.319-1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.319-1G>C)	.	.	0.999986675681007	0.932
18	29622141	G	T	18	32042178	y	y	splicing	RNF125(NM_017831:exon3:c.319-1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.319-1G>T)	.	.	0.999986675681007	0.926
18	29622142	G	A	18	32042179	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.G319A:p.V107I;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.G319A:p.V107I;	0.997351582733813	0.892
18	29622142	G	C	18	32042179	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.G319C:p.V107L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.G319C:p.V107L;	0.999585965486259	0.944
18	29622142	G	T	18	32042179	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.G319T:p.V107F;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.G319T:p.V107F;	0.999814072642697	0.956
18	29622143	T	A	18	32042180	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.T320A:p.V107D;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.T320A:p.V107D;	0.192434824750612	0.458
18	29622143	T	C	18	32042180	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.T320C:p.V107A;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.T320C:p.V107A;	0.156804581374635	0.498
18	29622143	T	G	18	32042180	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.T320G:p.V107G;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.T320G:p.V107G;	0.165975049949077	0.426
18	29622234	A	C	18	32042271	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon3:c.A411C:p.A137A;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.A411C:p.A137A;	1.09878274124229E-4	0.004
18	29622234	A	G	18	32042271	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon3:c.A411G:p.A137A;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.A411G:p.A137A;	2.72965188675693E-4	0.042
18	29622234	A	T	18	32042271	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon3:c.A411T:p.A137A;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.A411T:p.A137A;	0.0110183256758698	0.268
18	29622235	A	C	18	32042272	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon3:c.A412C:p.R138R;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.A412C:p.R138R;	0.6874251213209	0.548
18	29622235	A	G	18	32042272	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.A412G:p.R138G;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.A412G:p.R138G;	0.971688095945351	0.776
18	29622235	A	T	18	32042272	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.A412T:p.R138W;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.A412T:p.R138W;	0.999557440350542	0.99
18	29622236	G	A	18	32042273	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.G413A:p.R138K;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.G413A:p.R138K;	0.999948566926688	0.998
18	29622236	G	C	18	32042273	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.G413C:p.R138T;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.G413C:p.R138T;	0.99999268484978	0.964
18	29622236	G	T	18	32042273	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon3:c.G413T:p.R138M;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon3:c.G413T:p.R138M;	0.999957531281791	0.988
18	29622237	G	A	18	32042274	y	y	splicing	RNF125(NM_017831:exon3:c.413+1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.413+1G>A)	.	.	0.999987958061382	0.776
18	29622237	G	C	18	32042274	y	y	splicing	RNF125(NM_017831:exon3:c.413+1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.413+1G>C)	.	.	0.999987958061382	0.768
18	29622237	G	T	18	32042274	y	y	splicing	RNF125(NM_017831:exon3:c.413+1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.413+1G>T)	.	.	0.999987958061382	0.778
18	29622238	T	A	18	32042275	y	y	splicing	RNF125(NM_017831:exon3:c.413+2T>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.413+2T>A)	.	.	0.999989378869813	0.766
18	29622238	T	C	18	32042275	y	y	splicing	RNF125(NM_017831:exon3:c.413+2T>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.413+2T>C)	.	.	0.927067917406994	0.47
18	29622238	T	G	18	32042275	y	y	splicing	RNF125(NM_017831:exon3:c.413+2T>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon3:c.413+2T>G)	.	.	0.999989378869813	0.768
18	29622239	T	A	18	32042276	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.87265766609537E-4	0.17
18	29622239	T	C	18	32042276	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.06912669255657E-4	0.146
18	29622239	T	G	18	32042276	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.9449254902862E-5	0.064
18	29622240	T	A	18	32042277	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.61521730359777E-5	0.014
18	29622240	T	C	18	32042277	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.6095267375172E-5	0.02
18	29622240	T	G	18	32042277	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.05026236619912E-5	0.002
18	29622241	G	A	18	32042278	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999883132420565	0.89
18	29622241	G	C	18	32042278	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999993848640733	0.98
18	29622241	G	T	18	32042278	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999837075673248	0.916
18	29622242	T	A	18	32042279	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.588906939757202	0.414
18	29622242	T	C	18	32042279	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.466452796477615	0.356
18	29622242	T	G	18	32042279	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.119641501796543	0.292
18	29622243	T	A	18	32042280	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.86243357507913E-4	0.004
18	29622243	T	C	18	32042280	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.07842724372417E-4	0.0
18	29622243	T	G	18	32042280	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.77018238380901E-4	0.0
18	29622244	T	A	18	32042281	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.43778894028045E-5	0.022
18	29622244	T	C	18	32042281	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.38627844398054E-5	0.006
18	29622244	T	G	18	32042281	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.72528533875322E-4	0.018
18	29625593	T	A	18	32045630	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999147002296026	0.956
18	29625593	T	C	18	32045630	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	7.91978669454119E-5	0.0
18	29625593	T	G	18	32045630	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.044647674811854	0.194
18	29625594	G	A	18	32045631	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.66230782784446E-4	0.002
18	29625594	G	C	18	32045631	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.73651153333242E-5	0.0
18	29625594	G	T	18	32045631	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.12154721666629E-5	0.01
18	29625595	C	A	18	32045632	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.96183640650336E-4	0.006
18	29625595	C	G	18	32045632	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.63172138446128E-4	0.004
18	29625595	C	T	18	32045632	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.65096955710674E-5	0.0
18	29625596	T	A	18	32045633	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00362727903398544	0.09
18	29625596	T	C	18	32045633	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.39474216679405E-5	0.028
18	29625596	T	G	18	32045633	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00407174878417495	0.086
18	29625597	A	C	18	32045634	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.76654850173688E-5	0.0
18	29625597	A	G	18	32045634	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.89598363400388E-5	0.0
18	29625597	A	T	18	32045634	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.04807950759166E-4	0.004
18	29625598	T	A	18	32045635	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0931359851343885	0.362
18	29625598	T	C	18	32045635	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.26439331361645E-4	0.012
18	29625598	T	G	18	32045635	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999636369838795	0.98
18	29625599	T	A	18	32045636	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.458151208042288	0.42
18	29625599	T	C	18	32045636	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.76821411917909E-4	0.006
18	29625599	T	G	18	32045636	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.569602605194404	0.55
18	29625600	T	A	18	32045637	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.653924167846123	0.606
18	29625600	T	C	18	32045637	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00318926898538562	0.028
18	29625600	T	G	18	32045637	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.675831266663021	0.574
18	29625601	C	A	18	32045638	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.08585856283304E-4	0.014
18	29625601	C	G	18	32045638	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.48894394378233E-4	0.016
18	29625601	C	T	18	32045638	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.47755580479391E-4	0.004
18	29625602	C	A	18	32045639	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.130469217891825	0.464
18	29625602	C	G	18	32045639	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.987773085623748	0.91
18	29625602	C	T	18	32045639	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00481936638740283	0.01
18	29625603	A	C	18	32045640	y	y	splicing	RNF125(NM_017831:exon4:c.414-2A>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.414-2A>C;ENST00000580209:exon2:c.86-2A>C)	.	.	0.999988247793601	0.93
18	29625603	A	G	18	32045640	y	y	splicing	RNF125(NM_017831:exon4:c.414-2A>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.414-2A>G;ENST00000580209:exon2:c.86-2A>G)	.	.	0.999988247793601	0.93
18	29625603	A	T	18	32045640	y	y	splicing	RNF125(NM_017831:exon4:c.414-2A>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.414-2A>T;ENST00000580209:exon2:c.86-2A>T)	.	.	0.999988247793601	0.93
18	29625604	G	A	18	32045641	y	y	splicing	RNF125(NM_017831:exon4:c.414-1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.414-1G>A;ENST00000580209:exon2:c.86-1G>A)	.	.	0.999990361384395	0.936
18	29625604	G	C	18	32045641	y	y	splicing	RNF125(NM_017831:exon4:c.414-1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.414-1G>C;ENST00000580209:exon2:c.86-1G>C)	.	.	0.999990361384395	0.936
18	29625604	G	T	18	32045641	y	y	splicing	RNF125(NM_017831:exon4:c.414-1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.414-1G>T;ENST00000580209:exon2:c.86-1G>T)	.	.	0.999990361384395	0.936
18	29625605	G	A	18	32045642	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon4:c.G414A:p.R138R;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G414A:p.R138R;	0.0063632500989624	0.162
18	29625605	G	C	18	32045642	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.G414C:p.R138S;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G414C:p.R138S;	0.112966190357326	0.53
18	29625605	G	T	18	32045642	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.G414T:p.R138S;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G414T:p.R138S;	0.679802146811973	0.59
18	29625606	T	A	18	32045643	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.T415A:p.C139S;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.T415A:p.C139S;	0.44080922003108	0.366
18	29625606	T	C	18	32045643	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.T415C:p.C139R;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.T415C:p.C139R;	0.217708942280303	0.338
18	29625606	T	G	18	32045643	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.T415G:p.C139G;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.T415G:p.C139G;	0.199887843738274	0.374
18	29625693	G	A	18	32045730	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.G502A:p.V168M;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G502A:p.V168M;	0.959577415532313	0.714
18	29625693	G	C	18	32045730	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.G502C:p.V168L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G502C:p.V168L;	0.959577415532313	0.696
18	29625693	G	T	18	32045730	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.G502T:p.V168L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G502T:p.V168L;	0.983046493188508	0.782
18	29625694	T	A	18	32045731	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.T503A:p.V168E;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.T503A:p.V168E;	0.777892518902994	0.508
18	29625694	T	C	18	32045731	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.T503C:p.V168A;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.T503C:p.V168A;	0.971573426969759	0.844
18	29625694	T	G	18	32045731	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon4:c.T503G:p.V168G;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.T503G:p.V168G;	0.843767568854178	0.636
18	29625695	G	A	18	32045732	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon4:c.G504A:p.V168V;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G504A:p.V168V;	0.985873780096853	0.832
18	29625695	G	C	18	32045732	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon4:c.G504C:p.V168V;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G504C:p.V168V;	0.995563519118535	0.81
18	29625695	G	T	18	32045732	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon4:c.G504T:p.V168V;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon4:c.G504T:p.V168V;	0.982483864979305	0.798
18	29625696	G	A	18	32045733	y	y	splicing	RNF125(NM_017831:exon4:c.504+1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.504+1G>A;ENST00000580209:exon2:c.176+1G>A)	.	.	0.99995586615188	0.946
18	29625696	G	C	18	32045733	y	y	splicing	RNF125(NM_017831:exon4:c.504+1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.504+1G>C;ENST00000580209:exon2:c.176+1G>C)	.	.	0.99995586615188	0.94
18	29625696	G	T	18	32045733	y	y	splicing	RNF125(NM_017831:exon4:c.504+1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.504+1G>T;ENST00000580209:exon2:c.176+1G>T)	.	.	0.99995586615188	0.912
18	29625697	T	A	18	32045734	y	y	splicing	RNF125(NM_017831:exon4:c.504+2T>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.504+2T>A;ENST00000580209:exon2:c.176+2T>A)	.	.	0.999946188727699	0.948
18	29625697	T	C	18	32045734	y	y	splicing	RNF125(NM_017831:exon4:c.504+2T>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.504+2T>C;ENST00000580209:exon2:c.176+2T>C)	.	.	0.999665705992369	0.922
18	29625697	T	G	18	32045734	y	y	splicing	RNF125(NM_017831:exon4:c.504+2T>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon4:c.504+2T>G;ENST00000580209:exon2:c.176+2T>G)	.	.	0.999946188727699	0.932
18	29625698	A	C	18	32045735	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999548291299356	0.89
18	29625698	A	G	18	32045735	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.175555249694782	0.426
18	29625698	A	T	18	32045735	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999187855727483	0.908
18	29625699	A	C	18	32045736	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.10765174017566	0.394
18	29625699	A	G	18	32045736	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.978158192550872	0.78
18	29625699	A	T	18	32045736	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.571352456433099	0.65
18	29625700	G	A	18	32045737	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.995651118000309	0.654
18	29625700	G	C	18	32045737	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.997979807668893	0.708
18	29625700	G	T	18	32045737	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.998010287373806	0.636
18	29625701	G	A	18	32045738	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.10373553641462E-4	0.006
18	29625701	G	C	18	32045738	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	7.08205432871358E-5	0.004
18	29625701	G	T	18	32045738	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.78878836734123E-5	0.002
18	29625702	A	C	18	32045739	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.04880898606558E-4	0.006
18	29625702	A	G	18	32045739	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.06204400305209E-4	0.006
18	29625702	A	T	18	32045739	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00153096472425517	0.02
18	29625703	T	A	18	32045740	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.36920715347956E-4	0.03
18	29625703	T	C	18	32045740	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.98506262243032E-4	0.024
18	29625703	T	G	18	32045740	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.98506262243032E-4	0.022
18	29645853	G	A	18	32065890	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	4.79476665769948E-5	0.004
18	29645853	G	C	18	32065890	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.92139913727196E-6	0.004
18	29645853	G	T	18	32065890	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.45188676561769E-5	0.0
18	29645854	T	A	18	32065891	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.133283389433496	0.36
18	29645854	T	C	18	32065891	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00109204133483347	0.084
18	29645854	T	G	18	32065891	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0581086579624998	0.374
18	29645855	T	A	18	32065892	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00755748759245424	0.168
18	29645855	T	C	18	32065892	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.84161448910965E-5	0.0
18	29645855	T	G	18	32065892	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00300594727748332	0.178
18	29645856	T	A	18	32065893	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999954181546457	0.978
18	29645856	T	C	18	32065893	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.26049545199012E-4	0.004
18	29645856	T	G	18	32065893	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0256590099210016	0.274
18	29645857	G	A	18	32065894	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.67076103792866E-5	0.002
18	29645857	G	C	18	32065894	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.81953616500009E-5	0.004
18	29645857	G	T	18	32065894	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.83049554172516E-5	0.0
18	29645858	T	A	18	32065895	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0129796076054802	0.066
18	29645858	T	C	18	32065895	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.65693358457924E-5	0.0
18	29645858	T	G	18	32065895	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00510317684841237	0.022
18	29645859	T	A	18	32065896	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.917992443180454	0.528
18	29645859	T	C	18	32065896	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00184206841830155	0.02
18	29645859	T	G	18	32065896	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.810088043322522	0.496
18	29645860	T	A	18	32065897	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.944059747418544	0.688
18	29645860	T	C	18	32065897	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0164144804413786	0.094
18	29645860	T	G	18	32065897	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.875118549596919	0.614
18	29645861	C	A	18	32065898	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	4.45702944020847E-5	0.0
18	29645861	C	G	18	32065898	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.13279023332416E-4	0.0
18	29645861	C	T	18	32065898	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.52103837274043E-5	0.0
18	29645862	C	A	18	32065899	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.538930280145681	0.602
18	29645862	C	G	18	32065899	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999774118008155	0.96
18	29645862	C	T	18	32065899	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0071619841199281	0.056
18	29645863	A	C	18	32065900	y	y	splicing	RNF125(NM_017831:exon5:c.505-2A>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.505-2A>C;ENST00000580209:exon3:c.177-2A>C)	.	.	0.999988247793601	0.93
18	29645863	A	G	18	32065900	y	y	splicing	RNF125(NM_017831:exon5:c.505-2A>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.505-2A>G;ENST00000580209:exon3:c.177-2A>G)	.	.	0.999988247793601	0.93
18	29645863	A	T	18	32065900	y	y	splicing	RNF125(NM_017831:exon5:c.505-2A>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.505-2A>T;ENST00000580209:exon3:c.177-2A>T)	.	.	0.999988247793601	0.93
18	29645864	G	A	18	32065901	y	y	splicing	RNF125(NM_017831:exon5:c.505-1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.505-1G>A;ENST00000580209:exon3:c.177-1G>A)	.	.	0.999990361384395	0.936
18	29645864	G	C	18	32065901	y	y	splicing	RNF125(NM_017831:exon5:c.505-1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.505-1G>C;ENST00000580209:exon3:c.177-1G>C)	.	.	0.999990361384395	0.936
18	29645864	G	T	18	32065901	y	y	splicing	RNF125(NM_017831:exon5:c.505-1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.505-1G>T;ENST00000580209:exon3:c.177-1G>T)	.	.	0.999990361384395	0.936
18	29645865	T	A	18	32065902	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T505A:p.F169I;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T505A:p.F169I;	0.711917589403803	0.676
18	29645865	T	C	18	32065902	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T505C:p.F169L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T505C:p.F169L;	0.904217791962207	0.576
18	29645865	T	G	18	32065902	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T505G:p.F169V;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T505G:p.F169V;	7.26261442054371E-4	0.078
18	29645866	T	A	18	32065903	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T506A:p.F169Y;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T506A:p.F169Y;	0.373561770067531	0.618
18	29645866	T	C	18	32065903	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T506C:p.F169S;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T506C:p.F169S;	0.360000721192798	0.6
18	29645866	T	G	18	32065903	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T506G:p.F169C;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T506G:p.F169C;	0.439879141543238	0.454
18	29645970	A	C	18	32066007	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.A610C:p.I204L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.A610C:p.I204L;	2.06751361632093E-5	0.05
18	29645970	A	G	18	32066007	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.A610G:p.I204V;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.A610G:p.I204V;	2.11318267082826E-5	0.0
18	29645970	A	T	18	32066007	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.A610T:p.I204L;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.A610T:p.I204L;	0.00860717556450655	0.178
18	29645971	T	A	18	32066008	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T611A:p.I204K;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T611A:p.I204K;	0.77676783375624	0.584
18	29645971	T	C	18	32066008	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T611C:p.I204T;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T611C:p.I204T;	0.784971562013494	0.63
18	29645971	T	G	18	32066008	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.T611G:p.I204R;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.T611G:p.I204R;	0.979219820605074	0.85
18	29645972	A	C	18	32066009	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon5:c.A612C:p.I204I;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.A612C:p.I204I;	0.329012924727045	0.454
18	29645972	A	G	18	32066009	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon5:c.A612G:p.I204M;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.A612G:p.I204M;	0.0336886862235184	0.134
18	29645972	A	T	18	32066009	y	y	exonic	RNF125	synonymous SNV	RNF125:NM_017831:exon5:c.A612T:p.I204I;	exonic	ENSG00000101695	synonymous SNV	ENSG00000101695:ENST00000217740:exon5:c.A612T:p.I204I;	0.101371009872329	0.404
18	29645973	G	A	18	32066010	y	y	splicing	RNF125(NM_017831:exon5:c.612+1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.612+1G>A)	.	.	0.999990361384395	0.938
18	29645973	G	C	18	32066010	y	y	splicing	RNF125(NM_017831:exon5:c.612+1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.612+1G>C)	.	.	0.999990361384395	0.938
18	29645973	G	T	18	32066010	y	y	splicing	RNF125(NM_017831:exon5:c.612+1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.612+1G>T)	.	.	0.999990361384395	0.938
18	29645974	T	A	18	32066011	y	y	splicing	RNF125(NM_017831:exon5:c.612+2T>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.612+2T>A)	.	.	0.999988247793601	0.932
18	29645974	T	C	18	32066011	y	y	splicing	RNF125(NM_017831:exon5:c.612+2T>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.612+2T>C)	.	.	0.994669226766359	0.674
18	29645974	T	G	18	32066011	y	y	splicing	RNF125(NM_017831:exon5:c.612+2T>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon5:c.612+2T>G)	.	.	0.999988247793601	0.932
18	29645975	A	C	18	32066012	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.999889514522786	0.932
18	29645975	A	G	18	32066012	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.567621149967447	0.486
18	29645975	A	T	18	32066012	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.999871080385134	0.964
18	29645976	A	C	18	32066013	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.999048083260276	0.914
18	29645976	A	G	18	32066013	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.998663183239377	0.992
18	29645976	A	T	18	32066013	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.999101689620297	0.93
18	29645977	G	A	18	32066014	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.99997461091917	1.0
18	29645977	G	C	18	32066014	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.999976008337081	0.99
18	29645977	G	T	18	32066014	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.999976008337081	0.988
18	29645978	T	A	18	32066015	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.995410636378383	0.672
18	29645978	T	C	18	32066015	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.9845124032291	0.814
18	29645978	T	G	18	32066015	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.997332204637851	0.852
18	29645979	A	C	18	32066016	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.0110381577454684	0.15
18	29645979	A	G	18	32066016	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.0107546347815482	0.09
18	29645979	A	T	18	32066016	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	0.00859121394883933	0.14
18	29645980	T	A	18	32066017	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	1.60674838154823E-4	0.026
18	29645980	T	C	18	32066017	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	1.07000312680661E-4	0.028
18	29645980	T	G	18	32066017	y	y	intronic	RNF125	.	.	ncRNA_UTR3	ENSG00000101695	.	.	1.77107587565235E-4	0.026
18	29648249	T	A	18	32068286	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.923879262129412	0.706
18	29648249	T	C	18	32068286	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.40360700403542	0.484
18	29648249	T	G	18	32068286	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.882457831467847	0.646
18	29648250	C	A	18	32068287	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.16110730493316	0.398
18	29648250	C	G	18	32068287	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.123943481796751	0.408
18	29648250	C	T	18	32068287	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.398241515077894	0.556
18	29648251	T	A	18	32068288	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0580932267989066	0.286
18	29648251	T	C	18	32068288	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00405459311065067	0.108
18	29648251	T	G	18	32068288	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0854267187490388	0.31
18	29648252	T	A	18	32068289	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0171345093551191	0.212
18	29648252	T	C	18	32068289	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0027311382496995	0.118
18	29648252	T	G	18	32068289	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00958579232536706	0.206
18	29648253	T	A	18	32068290	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.3729013387002E-4	0.056
18	29648253	T	C	18	32068290	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.40270188270804E-4	0.01
18	29648253	T	G	18	32068290	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0012579485158016	0.164
18	29648254	A	C	18	32068291	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.13868110773072E-5	0.008
18	29648254	A	G	18	32068291	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.69013661213611E-4	0.002
18	29648254	A	T	18	32068291	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.58607622788683E-5	0.0
18	29648255	T	A	18	32068292	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00961047727598835	0.062
18	29648255	T	C	18	32068292	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.62475791227869E-4	0.0
18	29648255	T	G	18	32068292	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999775937560794	0.944
18	29648256	T	A	18	32068293	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999649662952069	0.932
18	29648256	T	C	18	32068293	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.620228048724164	0.494
18	29648256	T	G	18	32068293	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.979456364358042	0.798
18	29648257	G	A	18	32068294	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	6.1639623970684E-5	0.002
18	29648257	G	C	18	32068294	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.45084484572224E-5	0.004
18	29648257	G	T	18	32068294	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.83198633046881E-5	0.002
18	29648258	T	A	18	32068295	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0410277686936739	0.294
18	29648258	T	C	18	32068295	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.61303505543955E-4	0.012
18	29648258	T	G	18	32068295	y	y	intronic	RNF125	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.928536841539855	0.7
18	29648259	A	C	18	32068296	y	y	splicing	RNF125(NM_017831:exon6:c.613-2A>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon6:c.613-2A>C)	.	.	0.999988247793601	0.932
18	29648259	A	G	18	32068296	y	y	splicing	RNF125(NM_017831:exon6:c.613-2A>G)	.	.	splicing	ENSG00000101695(ENST00000217740:exon6:c.613-2A>G)	.	.	0.999988247793601	0.932
18	29648259	A	T	18	32068296	y	y	splicing	RNF125(NM_017831:exon6:c.613-2A>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon6:c.613-2A>T)	.	.	0.999988247793601	0.932
18	29648260	G	A	18	32068297	y	y	splicing	RNF125(NM_017831:exon6:c.613-1G>A)	.	.	splicing	ENSG00000101695(ENST00000217740:exon6:c.613-1G>A)	.	.	0.999990361384395	0.938
18	29648260	G	C	18	32068297	y	y	splicing	RNF125(NM_017831:exon6:c.613-1G>C)	.	.	splicing	ENSG00000101695(ENST00000217740:exon6:c.613-1G>C)	.	.	0.999990361384395	0.938
18	29648260	G	T	18	32068297	y	y	splicing	RNF125(NM_017831:exon6:c.613-1G>T)	.	.	splicing	ENSG00000101695(ENST00000217740:exon6:c.613-1G>T)	.	.	0.999990361384395	0.938
18	29648261	G	A	18	32068298	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon6:c.G613A:p.D205N;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon6:c.G613A:p.D205N;	0.996091366392356	0.858
18	29648261	G	C	18	32068298	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon6:c.G613C:p.D205H;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon6:c.G613C:p.D205H;	0.999740218619877	0.928
18	29648261	G	T	18	32068298	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon6:c.G613T:p.D205Y;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon6:c.G613T:p.D205Y;	0.999877150509541	0.954
18	29648262	A	C	18	32068299	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon6:c.A614C:p.D205A;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon6:c.A614C:p.D205A;	0.884234019652896	0.868
18	29648262	A	G	18	32068299	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon6:c.A614G:p.D205G;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon6:c.A614G:p.D205G;	0.890119269578889	0.72
18	29648262	A	T	18	32068299	y	y	exonic	RNF125	nonsynonymous SNV	RNF125:NM_017831:exon6:c.A614T:p.D205V;	exonic	ENSG00000101695	nonsynonymous SNV	ENSG00000101695:ENST00000217740:exon6:c.A614T:p.D205V;	0.815962949073035	0.802
18	29672196	T	A	18	32092233	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.38902716199852E-4	0.01
18	29672196	T	C	18	32092233	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	9.90792379341904E-5	0.004
18	29672196	T	G	18	32092233	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	9.90792379341904E-5	0.002
18	29672197	A	C	18	32092234	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.10714322530515E-4	0.0
18	29672197	A	G	18	32092234	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.10714322530515E-4	0.0
18	29672197	A	T	18	32092234	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	7.75684941161229E-5	0.0
18	29672198	G	A	18	32092235	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	7.01315188657279E-5	0.0
18	29672198	G	C	18	32092235	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	6.35428655471156E-5	0.002
18	29672198	G	T	18	32092235	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	7.01315188657279E-5	0.0
18	29672199	G	A	18	32092236	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	9.42664655654892E-4	0.012
18	29672199	G	C	18	32092236	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	0.00113468254586051	0.004
18	29672199	G	T	18	32092236	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	0.00134497788803244	0.004
18	29672200	T	A	18	32092237	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	1.61821323901995E-4	0.014
18	29672200	T	C	18	32092237	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	1.07774887351918E-4	0.016
18	29672200	T	G	18	32092237	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	1.07774887351918E-4	0.016
18	29672201	G	A	18	32092238	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.39634721695968E-4	0.002
18	29672201	G	C	18	32092238	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.00626085777549E-4	0.002
18	29672201	G	T	18	32092238	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.01713851427407E-4	0.004
18	29672202	A	C	18	32092239	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00394873627313349	0.03
18	29672202	A	G	18	32092239	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00394873627313349	0.02
18	29672202	A	T	18	32092239	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00398403719286887	0.03
18	29672203	G	A	18	32092240	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.69439264402225E-5	0.0
18	29672203	G	C	18	32092240	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.69439264402225E-5	0.0
18	29672203	G	T	18	32092240	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	5.69439264402225E-5	0.0
18	29672204	A	C	18	32092241	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.21585938585243E-5	0.0
18	29672204	A	G	18	32092241	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.21585938585243E-5	0.0
18	29672204	A	T	18	32092241	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.21585938585243E-5	0.0
18	29672205	G	A	18	32092242	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.25919551743448E-4	0.002
18	29672205	G	C	18	32092242	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.69171314780076E-4	0.0
18	29672205	G	T	18	32092242	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.25919551743448E-4	0.02
18	29672206	T	A	18	32092243	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.05989827904091E-4	0.016
18	29672206	T	C	18	32092243	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.12581597765867E-4	0.0
18	29672206	T	G	18	32092243	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.12581597765867E-4	0.0
18	29672651	G	A	18	32092688	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	2.79594564656146E-5	0.004
18	29672651	G	C	18	32092688	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	2.79594564656146E-5	0.006
18	29672651	G	T	18	32092688	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	2.79594564656146E-5	0.006
18	29672652	G	A	18	32092689	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	3.35115461238441E-4	0.0
18	29672652	G	C	18	32092689	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	3.35115461238441E-4	0.0
18	29672652	G	T	18	32092689	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	3.35115461238441E-4	0.0
18	29672653	G	A	18	32092690	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	4.04096031973704E-5	0.008
18	29672653	G	C	18	32092690	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	4.87698428322107E-5	0.008
18	29672653	G	T	18	32092690	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	4.87698428322107E-5	0.008
18	29672654	T	A	18	32092691	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	4.19523722086209E-5	0.0
18	29672654	T	C	18	32092691	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	7.62500938860321E-5	0.0
18	29672654	T	G	18	32092691	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	7.62500938860321E-5	0.0
18	29672655	T	A	18	32092692	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.1738525533333E-5	0.0
18	29672655	T	C	18	32092692	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.08788427788342E-5	0.0
18	29672655	T	G	18	32092692	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.08788427788342E-5	0.0
18	29672656	C	A	18	32092693	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.80650664972837E-4	0.0
18	29672656	C	G	18	32092693	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.80650664972837E-4	0.0
18	29672656	C	T	18	32092693	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.80650664972837E-4	0.0
18	29672657	A	C	18	32092694	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	6.552751562108E-5	0.004
18	29672657	A	G	18	32092694	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	6.552751562108E-5	0.004
18	29672657	A	T	18	32092694	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	6.552751562108E-5	0.006
18	29672658	T	A	18	32092695	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.26265784421591E-4	0.022
18	29672658	T	C	18	32092695	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.26265784421591E-4	0.022
18	29672658	T	G	18	32092695	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	1.26265784421591E-4	0.022
18	29672659	G	A	18	32092696	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	3.57076726553018E-5	0.0
18	29672659	G	C	18	32092696	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	4.7749166663215E-5	0.004
18	29672659	G	T	18	32092696	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	3.57076726553018E-5	0.004
18	29672660	T	A	18	32092697	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	4.76357584838511E-5	0.018
18	29672660	T	C	18	32092697	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	4.76357584838511E-5	0.018
18	29672660	T	G	18	32092697	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	4.76357584838511E-5	0.018
18	29672661	A	C	18	32092698	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	3.49403053016175E-5	0.006
18	29672661	A	G	18	32092698	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	3.49403053016175E-5	0.006
18	29672661	A	T	18	32092698	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	2.6128894829304E-5	0.004
18	29672662	G	A	18	32092699	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	4.59011002566824E-5	0.012
18	29672662	G	C	18	32092699	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	4.59011002566824E-5	0.012
18	29672662	G	T	18	32092699	y	y	splicing	RNF138	.	.	splicing	ENSG00000134758	.	.	4.59011002566824E-5	0.016
18	29672663	G	A	18	32092700	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	9.71819796559124E-4	0.012
18	29672663	G	C	18	32092700	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	8.19822057903476E-4	0.01
18	29672663	G	T	18	32092700	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	8.28677872108501E-4	0.014
18	29672664	G	A	18	32092701	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	3.28486440661961E-4	0.032
18	29672664	G	C	18	32092701	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	2.77081522621141E-4	0.032
18	29672664	G	T	18	32092701	y	y	UTR5	RNF138	.	.	ncRNA_UTR5	ENSG00000134758	.	.	2.80076233151129E-4	0.032
18	29672847	C	A	18	32092884	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon1:c.C108A:p.H36Q;RNF138:NM_016271:exon2:c.C108A:p.H36Q;RNF138:NM_001191324:exon1:c.C108A:p.H36Q;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.C108A:p.H36Q;ENSG00000134758:ENST00000261593:exon2:c.C108A:p.H36Q;ENSG00000134758:ENST00000257190:exon1:c.C108A:p.H36Q;ENSG00000134758:ENST00000578107:exon1:c.C108A:p.H36Q;	0.0214500207350401	0.188
18	29672847	C	G	18	32092884	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon1:c.C108G:p.H36Q;RNF138:NM_016271:exon2:c.C108G:p.H36Q;RNF138:NM_001191324:exon1:c.C108G:p.H36Q;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.C108G:p.H36Q;ENSG00000134758:ENST00000261593:exon2:c.C108G:p.H36Q;ENSG00000134758:ENST00000257190:exon1:c.C108G:p.H36Q;ENSG00000134758:ENST00000578107:exon1:c.C108G:p.H36Q;	0.0789827614389332	0.244
18	29672847	C	T	18	32092884	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon1:c.C108T:p.H36H;RNF138:NM_016271:exon2:c.C108T:p.H36H;RNF138:NM_001191324:exon1:c.C108T:p.H36H;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.C108T:p.H36H;ENSG00000134758:ENST00000261593:exon2:c.C108T:p.H36H;ENSG00000134758:ENST00000257190:exon1:c.C108T:p.H36H;ENSG00000134758:ENST00000578107:exon1:c.C108T:p.H36H;	0.978258496439742	0.81
18	29672848	G	A	18	32092885	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon1:c.G109A:p.V37I;RNF138:NM_016271:exon2:c.G109A:p.V37I;RNF138:NM_001191324:exon1:c.G109A:p.V37I;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.G109A:p.V37I;ENSG00000134758:ENST00000261593:exon2:c.G109A:p.V37I;ENSG00000134758:ENST00000257190:exon1:c.G109A:p.V37I;ENSG00000134758:ENST00000578107:exon1:c.G109A:p.V37I;	0.0549386169533896	0.376
18	29672848	G	C	18	32092885	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon1:c.G109C:p.V37L;RNF138:NM_016271:exon2:c.G109C:p.V37L;RNF138:NM_001191324:exon1:c.G109C:p.V37L;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.G109C:p.V37L;ENSG00000134758:ENST00000261593:exon2:c.G109C:p.V37L;ENSG00000134758:ENST00000257190:exon1:c.G109C:p.V37L;ENSG00000134758:ENST00000578107:exon1:c.G109C:p.V37L;	0.0510373312935244	0.23
18	29672848	G	T	18	32092885	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon1:c.G109T:p.V37F;RNF138:NM_016271:exon2:c.G109T:p.V37F;RNF138:NM_001191324:exon1:c.G109T:p.V37F;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.G109T:p.V37F;ENSG00000134758:ENST00000261593:exon2:c.G109T:p.V37F;ENSG00000134758:ENST00000257190:exon1:c.G109T:p.V37F;ENSG00000134758:ENST00000578107:exon1:c.G109T:p.V37F;	0.216102127666131	0.236
18	29672849	T	A	18	32092886	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon1:c.T110A:p.V37D;RNF138:NM_016271:exon2:c.T110A:p.V37D;RNF138:NM_001191324:exon1:c.T110A:p.V37D;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.T110A:p.V37D;ENSG00000134758:ENST00000261593:exon2:c.T110A:p.V37D;ENSG00000134758:ENST00000257190:exon1:c.T110A:p.V37D;ENSG00000134758:ENST00000578107:exon1:c.T110A:p.V37D;	0.00963428340691436	0.146
18	29672849	T	C	18	32092886	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon1:c.T110C:p.V37A;RNF138:NM_016271:exon2:c.T110C:p.V37A;RNF138:NM_001191324:exon1:c.T110C:p.V37A;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.T110C:p.V37A;ENSG00000134758:ENST00000261593:exon2:c.T110C:p.V37A;ENSG00000134758:ENST00000257190:exon1:c.T110C:p.V37A;ENSG00000134758:ENST00000578107:exon1:c.T110C:p.V37A;	0.00350012818589757	0.11
18	29672849	T	G	18	32092886	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon1:c.T110G:p.V37G;RNF138:NM_016271:exon2:c.T110G:p.V37G;RNF138:NM_001191324:exon1:c.T110G:p.V37G;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon1:c.T110G:p.V37G;ENSG00000134758:ENST00000261593:exon2:c.T110G:p.V37G;ENSG00000134758:ENST00000257190:exon1:c.T110G:p.V37G;ENSG00000134758:ENST00000578107:exon1:c.T110G:p.V37G;	0.00808023110322644	0.266
18	29672850	G	A	18	32092887	y	y	splicing	RNF138(NM_016271:exon2:c.110+1G>A;NM_001191324:exon1:c.110+1G>A;NM_198128:exon1:c.110+1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon2:c.110+1G>A;ENST00000578107:exon1:c.110+1G>A;ENST00000257190:exon1:c.110+1G>A;ENST00000580499:exon1:c.110+1G>A)	.	.	0.999986675681007	0.928
18	29672850	G	C	18	32092887	y	y	splicing	RNF138(NM_016271:exon2:c.110+1G>C;NM_001191324:exon1:c.110+1G>C;NM_198128:exon1:c.110+1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon2:c.110+1G>C;ENST00000578107:exon1:c.110+1G>C;ENST00000257190:exon1:c.110+1G>C;ENST00000580499:exon1:c.110+1G>C)	.	.	0.999986675681007	0.928
18	29672850	G	T	18	32092887	y	y	splicing	RNF138(NM_016271:exon2:c.110+1G>T;NM_001191324:exon1:c.110+1G>T;NM_198128:exon1:c.110+1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon2:c.110+1G>T;ENST00000578107:exon1:c.110+1G>T;ENST00000257190:exon1:c.110+1G>T;ENST00000580499:exon1:c.110+1G>T)	.	.	0.999986675681007	0.928
18	29672851	T	A	18	32092888	y	y	splicing	RNF138(NM_016271:exon2:c.110+2T>A;NM_001191324:exon1:c.110+2T>A;NM_198128:exon1:c.110+2T>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon2:c.110+2T>A;ENST00000578107:exon1:c.110+2T>A;ENST00000257190:exon1:c.110+2T>A;ENST00000580499:exon1:c.110+2T>A)	.	.	0.999989917668626	0.928
18	29672851	T	C	18	32092888	y	y	splicing	RNF138(NM_016271:exon2:c.110+2T>C;NM_001191324:exon1:c.110+2T>C;NM_198128:exon1:c.110+2T>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon2:c.110+2T>C;ENST00000578107:exon1:c.110+2T>C;ENST00000257190:exon1:c.110+2T>C;ENST00000580499:exon1:c.110+2T>C)	.	.	0.999951695480788	0.878
18	29672851	T	G	18	32092888	y	y	splicing	RNF138(NM_016271:exon2:c.110+2T>G;NM_001191324:exon1:c.110+2T>G;NM_198128:exon1:c.110+2T>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon2:c.110+2T>G;ENST00000578107:exon1:c.110+2T>G;ENST00000257190:exon1:c.110+2T>G;ENST00000580499:exon1:c.110+2T>G)	.	.	0.999989917668626	0.928
18	29672852	G	A	18	32092889	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.793678056900989	0.628
18	29672852	G	C	18	32092889	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.99997318526471	0.91
18	29672852	G	T	18	32092889	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999973401366634	0.91
18	29672853	A	C	18	32092890	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999491371702332	0.864
18	29672853	A	G	18	32092890	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999937078165328	0.938
18	29672853	A	T	18	32092890	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999937078165328	0.89
18	29672854	G	A	18	32092891	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999993319094415	0.98
18	29672854	G	C	18	32092891	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999991321488881	0.972
18	29672854	G	T	18	32092891	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999990697380366	0.972
18	29672855	T	A	18	32092892	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.998611678520485	0.758
18	29672855	T	C	18	32092892	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.991789622645579	0.878
18	29672855	T	G	18	32092892	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.977641962820964	0.786
18	29672856	A	C	18	32092893	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.10680320837814E-5	0.0
18	29672856	A	G	18	32092893	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.89667683004487E-4	0.116
18	29672856	A	T	18	32092893	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	7.52609100462056E-4	0.218
18	29672857	G	A	18	32092894	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.19034826782838E-4	0.004
18	29672857	G	C	18	32092894	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.62203047383427E-4	0.0
18	29672857	G	T	18	32092894	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	1.6385860894867E-4	0.004
18	29691705	T	A	18	32111742	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999565187347212	0.916
18	29691705	T	C	18	32111742	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00642560951144421	0.134
18	29691705	T	G	18	32111742	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999565187347212	0.922
18	29691706	G	A	18	32111743	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	9.00988614685508E-4	0.044
18	29691706	G	C	18	32111743	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.23850121479994E-5	0.03
18	29691706	G	T	18	32111743	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.17366365070977E-4	0.094
18	29691707	T	A	18	32111744	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.934592532747548	0.776
18	29691707	T	C	18	32111744	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0445973195750236	0.36
18	29691707	T	G	18	32111744	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.898820822612977	0.78
18	29691708	T	A	18	32111745	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.222009280414699	0.594
18	29691708	T	C	18	32111745	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00601197700881576	0.076
18	29691708	T	G	18	32111745	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.184948680943477	0.544
18	29691709	T	A	18	32111746	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999007326169022	0.948
18	29691709	T	C	18	32111746	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.08080359759466E-4	0.05
18	29691709	T	G	18	32111746	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00708824012932718	0.262
18	29691710	G	A	18	32111747	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.999290427100822	0.95
18	29691710	G	C	18	32111747	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.64820133555604E-4	0.096
18	29691710	G	T	18	32111747	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	3.9928289942067E-4	0.07
18	29691711	G	A	18	32111748	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.53424182100675E-5	0.02
18	29691711	G	C	18	32111748	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.51728939986886E-5	0.072
18	29691711	G	T	18	32111748	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	2.60342987069694E-5	0.004
18	29691712	T	A	18	32111749	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.582096059632734	0.66
18	29691712	T	C	18	32111749	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00140207771667886	0.26
18	29691712	T	G	18	32111749	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.290774954881812	0.612
18	29691713	T	A	18	32111750	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0477548358902703	0.13
18	29691713	T	C	18	32111750	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.00526889882673897	0.082
18	29691713	T	G	18	32111750	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.0506364550207014	0.1
18	29691714	T	A	18	32111751	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.293283777658201	0.46
18	29691714	T	C	18	32111751	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	8.42618009234067E-5	0.086
18	29691714	T	G	18	32111751	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263917	.	.	0.930562226173419	0.662
18	29691715	A	C	18	32111752	y	y	splicing	RNF138(NM_016271:exon3:c.111-2A>C;NM_001191324:exon2:c.111-2A>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.111-2A>C;ENST00000578107:exon2:c.111-2A>C;ENST00000580499:exon2:c.111-2A>C)	.	.	0.999941321529225	0.882
18	29691715	A	G	18	32111752	y	y	splicing	RNF138(NM_016271:exon3:c.111-2A>G;NM_001191324:exon2:c.111-2A>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.111-2A>G;ENST00000578107:exon2:c.111-2A>G;ENST00000580499:exon2:c.111-2A>G)	.	.	0.999941321529225	0.882
18	29691715	A	T	18	32111752	y	y	splicing	RNF138(NM_016271:exon3:c.111-2A>T;NM_001191324:exon2:c.111-2A>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.111-2A>T;ENST00000578107:exon2:c.111-2A>T;ENST00000580499:exon2:c.111-2A>T)	.	.	0.999941321529225	0.882
18	29691716	G	A	18	32111753	y	y	splicing	RNF138(NM_016271:exon3:c.111-1G>A;NM_001191324:exon2:c.111-1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.111-1G>A;ENST00000578107:exon2:c.111-1G>A;ENST00000580499:exon2:c.111-1G>A)	.	.	0.999983347500877	0.886
18	29691716	G	C	18	32111753	y	y	splicing	RNF138(NM_016271:exon3:c.111-1G>C;NM_001191324:exon2:c.111-1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.111-1G>C;ENST00000578107:exon2:c.111-1G>C;ENST00000580499:exon2:c.111-1G>C)	.	.	0.999983347500877	0.886
18	29691716	G	T	18	32111753	y	y	splicing	RNF138(NM_016271:exon3:c.111-1G>T;NM_001191324:exon2:c.111-1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.111-1G>T;ENST00000578107:exon2:c.111-1G>T;ENST00000580499:exon2:c.111-1G>T)	.	.	0.999983347500877	0.886
18	29691717	T	A	18	32111754	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_016271:exon3:c.T111A:p.V37V;RNF138:NM_001191324:exon2:c.T111A:p.V37V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.T111A:p.V37V;ENSG00000134758:ENST00000261593:exon3:c.T111A:p.V37V;ENSG00000134758:ENST00000578107:exon2:c.T111A:p.V37V;	8.36913316914469E-6	0.076
18	29691717	T	C	18	32111754	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_016271:exon3:c.T111C:p.V37V;RNF138:NM_001191324:exon2:c.T111C:p.V37V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.T111C:p.V37V;ENSG00000134758:ENST00000261593:exon3:c.T111C:p.V37V;ENSG00000134758:ENST00000578107:exon2:c.T111C:p.V37V;	5.74846325800797E-5	0.13
18	29691717	T	G	18	32111754	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_016271:exon3:c.T111G:p.V37V;RNF138:NM_001191324:exon2:c.T111G:p.V37V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.T111G:p.V37V;ENSG00000134758:ENST00000261593:exon3:c.T111G:p.V37V;ENSG00000134758:ENST00000578107:exon2:c.T111G:p.V37V;	5.8836820004061E-5	0.092
18	29691718	T	A	18	32111755	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.T112A:p.F38I;RNF138:NM_001191324:exon2:c.T112A:p.F38I;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.T112A:p.F38I;ENSG00000134758:ENST00000261593:exon3:c.T112A:p.F38I;ENSG00000134758:ENST00000578107:exon2:c.T112A:p.F38I;	0.0995123090167334	0.288
18	29691718	T	C	18	32111755	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.T112C:p.F38L;RNF138:NM_001191324:exon2:c.T112C:p.F38L;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.T112C:p.F38L;ENSG00000134758:ENST00000261593:exon3:c.T112C:p.F38L;ENSG00000134758:ENST00000578107:exon2:c.T112C:p.F38L;	0.11260057943754	0.334
18	29691718	T	G	18	32111755	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.T112G:p.F38V;RNF138:NM_001191324:exon2:c.T112G:p.F38V;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.T112G:p.F38V;ENSG00000134758:ENST00000261593:exon3:c.T112G:p.F38V;ENSG00000134758:ENST00000578107:exon2:c.T112G:p.F38V;	0.0365334805874121	0.154
18	29691880	C	A	18	32111917	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.C274A:p.Q92K;RNF138:NM_001191324:exon2:c.C274A:p.Q92K;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.C274A:p.Q92K;ENSG00000134758:ENST00000578914:exon2:c.C136A:p.Q46K;ENSG00000134758:ENST00000261593:exon3:c.C274A:p.Q92K;ENSG00000134758:ENST00000578107:exon2:c.C274A:p.Q92K;	0.00592332913753222	0.116
18	29691880	C	G	18	32111917	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.C274G:p.Q92E;RNF138:NM_001191324:exon2:c.C274G:p.Q92E;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.C274G:p.Q92E;ENSG00000134758:ENST00000578914:exon2:c.C136G:p.Q46E;ENSG00000134758:ENST00000261593:exon3:c.C274G:p.Q92E;ENSG00000134758:ENST00000578107:exon2:c.C274G:p.Q92E;	0.055532936804991	0.256
18	29691880	C	T	18	32111917	y	y	exonic	RNF138	stopgain SNV	RNF138:NM_016271:exon3:c.C274T:p.Q92X;RNF138:NM_001191324:exon2:c.C274T:p.Q92X;	exonic	ENSG00000134758	stopgain SNV	ENSG00000134758:ENST00000580499:exon2:c.C274T:p.Q92X;ENSG00000134758:ENST00000578914:exon2:c.C136T:p.Q46X;ENSG00000134758:ENST00000261593:exon3:c.C274T:p.Q92X;ENSG00000134758:ENST00000578107:exon2:c.C274T:p.Q92X;	0.998518376865543	0.916
18	29691881	A	C	18	32111918	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.A275C:p.Q92P;RNF138:NM_001191324:exon2:c.A275C:p.Q92P;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.A275C:p.Q92P;ENSG00000134758:ENST00000578914:exon2:c.A137C:p.Q46P;ENSG00000134758:ENST00000261593:exon3:c.A275C:p.Q92P;ENSG00000134758:ENST00000578107:exon2:c.A275C:p.Q92P;	0.999107140262226	0.85
18	29691881	A	G	18	32111918	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.A275G:p.Q92R;RNF138:NM_001191324:exon2:c.A275G:p.Q92R;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.A275G:p.Q92R;ENSG00000134758:ENST00000578914:exon2:c.A137G:p.Q46R;ENSG00000134758:ENST00000261593:exon3:c.A275G:p.Q92R;ENSG00000134758:ENST00000578107:exon2:c.A275G:p.Q92R;	0.999825654297137	0.972
18	29691881	A	T	18	32111918	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.A275T:p.Q92L;RNF138:NM_001191324:exon2:c.A275T:p.Q92L;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.A275T:p.Q92L;ENSG00000134758:ENST00000578914:exon2:c.A137T:p.Q46L;ENSG00000134758:ENST00000261593:exon3:c.A275T:p.Q92L;ENSG00000134758:ENST00000578107:exon2:c.A275T:p.Q92L;	0.99988991462691	0.988
18	29691882	G	A	18	32111919	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_016271:exon3:c.G276A:p.Q92Q;RNF138:NM_001191324:exon2:c.G276A:p.Q92Q;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.G276A:p.Q92Q;ENSG00000134758:ENST00000578914:exon2:c.G138A:p.Q46Q;ENSG00000134758:ENST00000261593:exon3:c.G276A:p.Q92Q;ENSG00000134758:ENST00000578107:exon2:c.G276A:p.Q92Q;	0.999976508202873	1.0
18	29691882	G	C	18	32111919	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.G276C:p.Q92H;RNF138:NM_001191324:exon2:c.G276C:p.Q92H;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.G276C:p.Q92H;ENSG00000134758:ENST00000578914:exon2:c.G138C:p.Q46H;ENSG00000134758:ENST00000261593:exon3:c.G276C:p.Q92H;ENSG00000134758:ENST00000578107:exon2:c.G276C:p.Q92H;	0.999994916390774	0.99
18	29691882	G	T	18	32111919	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon3:c.G276T:p.Q92H;RNF138:NM_001191324:exon2:c.G276T:p.Q92H;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon2:c.G276T:p.Q92H;ENSG00000134758:ENST00000578914:exon2:c.G138T:p.Q46H;ENSG00000134758:ENST00000261593:exon3:c.G276T:p.Q92H;ENSG00000134758:ENST00000578107:exon2:c.G276T:p.Q92H;	0.999975631047406	0.982
18	29691883	G	A	18	32111920	y	y	splicing	RNF138(NM_016271:exon3:c.276+1G>A;NM_001191324:exon2:c.276+1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.276+1G>A;ENST00000578914:exon2:c.138+1G>A;ENST00000578107:exon2:c.276+1G>A;ENST00000580499:exon2:c.276+1G>A)	.	.	0.999986675681007	0.932
18	29691883	G	C	18	32111920	y	y	splicing	RNF138(NM_016271:exon3:c.276+1G>C;NM_001191324:exon2:c.276+1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.276+1G>C;ENST00000578914:exon2:c.138+1G>C;ENST00000578107:exon2:c.276+1G>C;ENST00000580499:exon2:c.276+1G>C)	.	.	0.999986675681007	0.932
18	29691883	G	T	18	32111920	y	y	splicing	RNF138(NM_016271:exon3:c.276+1G>T;NM_001191324:exon2:c.276+1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.276+1G>T;ENST00000578914:exon2:c.138+1G>T;ENST00000578107:exon2:c.276+1G>T;ENST00000580499:exon2:c.276+1G>T)	.	.	0.999986675681007	0.932
18	29691884	T	A	18	32111921	y	y	splicing	RNF138(NM_016271:exon3:c.276+2T>A;NM_001191324:exon2:c.276+2T>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.276+2T>A;ENST00000578914:exon2:c.138+2T>A;ENST00000578107:exon2:c.276+2T>A;ENST00000580499:exon2:c.276+2T>A)	.	.	0.999988247793601	0.928
18	29691884	T	C	18	32111921	y	y	splicing	RNF138(NM_016271:exon3:c.276+2T>C;NM_001191324:exon2:c.276+2T>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.276+2T>C;ENST00000578914:exon2:c.138+2T>C;ENST00000578107:exon2:c.276+2T>C;ENST00000580499:exon2:c.276+2T>C)	.	.	0.993998724689378	0.626
18	29691884	T	G	18	32111921	y	y	splicing	RNF138(NM_016271:exon3:c.276+2T>G;NM_001191324:exon2:c.276+2T>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon3:c.276+2T>G;ENST00000578914:exon2:c.138+2T>G;ENST00000578107:exon2:c.276+2T>G;ENST00000580499:exon2:c.276+2T>G)	.	.	0.999988247793601	0.928
18	29691885	A	C	18	32111922	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999883072361586	0.966
18	29691885	A	G	18	32111922	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.998832684605118	0.934
18	29691885	A	T	18	32111922	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999915223725461	0.938
18	29691886	G	A	18	32111923	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	2.22790410561255E-4	0.05
18	29691886	G	C	18	32111923	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	2.65830677860825E-4	0.284
18	29691886	G	T	18	32111923	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	9.86234208483952E-5	0.052
18	29691887	A	C	18	32111924	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.0433461137867711	0.316
18	29691887	A	G	18	32111924	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.0123426828989546	0.114
18	29691887	A	T	18	32111924	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.195244235471158	0.374
18	29691888	G	A	18	32111925	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.561574972176742	0.364
18	29691888	G	C	18	32111925	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.0352394365173599	0.276
18	29691888	G	T	18	32111925	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.0090571475548152	0.092
18	29691889	T	A	18	32111926	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.34401262359083E-4	0.008
18	29691889	T	C	18	32111926	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	3.66991479283407E-4	0.006
18	29691889	T	G	18	32111926	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	3.66991479283407E-4	0.006
18	29691890	A	C	18	32111927	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	8.01166464796949E-4	0.0
18	29691890	A	G	18	32111927	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00441407461992464	0.0
18	29691890	A	T	18	32111927	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00352159123232237	0.002
18	29693696	A	C	18	32113733	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	6.66755770825757E-4	0.22
18	29693696	A	G	18	32113733	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	5.13640971565052E-4	0.126
18	29693696	A	T	18	32113733	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	6.20787223121497E-4	0.236
18	29693697	A	C	18	32113734	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.03891183445501	0.294
18	29693697	A	G	18	32113734	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.997750494040052	0.936
18	29693697	A	T	18	32113734	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.0317649168067191	0.322
18	29693698	T	A	18	32113735	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999121130860453	0.896
18	29693698	T	C	18	32113735	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.176353534461675	0.402
18	29693698	T	G	18	32113735	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999988618541081	0.974
18	29693699	A	C	18	32113736	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.427575116887405	0.562
18	29693699	A	G	18	32113736	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.772327046120392	0.76
18	29693699	A	T	18	32113736	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.456211364926782	0.54
18	29693700	A	C	18	32113737	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00156415413057406	0.032
18	29693700	A	G	18	32113737	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.99851344702295	0.902
18	29693700	A	T	18	32113737	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00523448430479	0.064
18	29693701	T	A	18	32113738	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.98781619762856	0.746
18	29693701	T	C	18	32113738	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00391991238424621	0.184
18	29693701	T	G	18	32113738	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999961886085723	0.992
18	29693702	T	A	18	32113739	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.998251169894588	0.876
18	29693702	T	C	18	32113739	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00701322115623356	0.166
18	29693702	T	G	18	32113739	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.997739340241651	0.868
18	29693703	T	A	18	32113740	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.95583633623273	0.734
18	29693703	T	C	18	32113740	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.125318843519728	0.172
18	29693703	T	G	18	32113740	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.994197975814684	0.82
18	29693704	A	C	18	32113741	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.39457943013572E-4	0.026
18	29693704	A	G	18	32113741	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	8.60321747097386E-4	0.076
18	29693704	A	T	18	32113741	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	6.10503293135253E-4	0.018
18	29693705	C	A	18	32113742	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999769731241318	0.966
18	29693705	C	G	18	32113742	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999906512925706	0.928
18	29693705	C	T	18	32113742	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.984915087165314	0.268
18	29693706	A	C	18	32113743	y	y	splicing	RNF138(NM_016271:exon4:c.277-2A>C;NM_001191324:exon3:c.277-2A>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.277-2A>C;ENST00000578914:exon3:c.139-2A>C;ENST00000578107:exon3:c.277-2A>C;ENST00000580499:exon3:c.277-2A>C)	.	.	0.999981808176352	0.938
18	29693706	A	G	18	32113743	y	y	splicing	RNF138(NM_016271:exon4:c.277-2A>G;NM_001191324:exon3:c.277-2A>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.277-2A>G;ENST00000578914:exon3:c.139-2A>G;ENST00000578107:exon3:c.277-2A>G;ENST00000580499:exon3:c.277-2A>G)	.	.	0.999981808176352	0.938
18	29693706	A	T	18	32113743	y	y	splicing	RNF138(NM_016271:exon4:c.277-2A>T;NM_001191324:exon3:c.277-2A>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.277-2A>T;ENST00000578914:exon3:c.139-2A>T;ENST00000578107:exon3:c.277-2A>T;ENST00000580499:exon3:c.277-2A>T)	.	.	0.999981808176352	0.938
18	29693707	G	A	18	32113744	y	y	splicing	RNF138(NM_016271:exon4:c.277-1G>A;NM_001191324:exon3:c.277-1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.277-1G>A;ENST00000578914:exon3:c.139-1G>A;ENST00000578107:exon3:c.277-1G>A;ENST00000580499:exon3:c.277-1G>A)	.	.	0.999986675681007	0.948
18	29693707	G	C	18	32113744	y	y	splicing	RNF138(NM_016271:exon4:c.277-1G>C;NM_001191324:exon3:c.277-1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.277-1G>C;ENST00000578914:exon3:c.139-1G>C;ENST00000578107:exon3:c.277-1G>C;ENST00000580499:exon3:c.277-1G>C)	.	.	0.999986675681007	0.948
18	29693707	G	T	18	32113744	y	y	splicing	RNF138(NM_016271:exon4:c.277-1G>T;NM_001191324:exon3:c.277-1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.277-1G>T;ENST00000578914:exon3:c.139-1G>T;ENST00000578107:exon3:c.277-1G>T;ENST00000580499:exon3:c.277-1G>T)	.	.	0.999986675681007	0.948
18	29693708	A	C	18	32113745	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.A277C:p.I93L;RNF138:NM_001191324:exon3:c.A277C:p.I93L;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.A277C:p.I93L;ENSG00000134758:ENST00000578914:exon3:c.A139C:p.I47L;ENSG00000134758:ENST00000261593:exon4:c.A277C:p.I93L;ENSG00000134758:ENST00000578107:exon3:c.A277C:p.I93L;	0.0354216723343604	0.084
18	29693708	A	G	18	32113745	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.A277G:p.I93V;RNF138:NM_001191324:exon3:c.A277G:p.I93V;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.A277G:p.I93V;ENSG00000134758:ENST00000578914:exon3:c.A139G:p.I47V;ENSG00000134758:ENST00000261593:exon4:c.A277G:p.I93V;ENSG00000134758:ENST00000578107:exon3:c.A277G:p.I93V;	4.71848360286595E-4	0.0
18	29693708	A	T	18	32113745	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.A277T:p.I93F;RNF138:NM_001191324:exon3:c.A277T:p.I93F;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.A277T:p.I93F;ENSG00000134758:ENST00000578914:exon3:c.A139T:p.I47F;ENSG00000134758:ENST00000261593:exon4:c.A277T:p.I93F;ENSG00000134758:ENST00000578107:exon3:c.A277T:p.I93F;	0.00980410984735563	0.134
18	29693709	T	A	18	32113746	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.T278A:p.I93N;RNF138:NM_001191324:exon3:c.T278A:p.I93N;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.T278A:p.I93N;ENSG00000134758:ENST00000578914:exon3:c.T140A:p.I47N;ENSG00000134758:ENST00000261593:exon4:c.T278A:p.I93N;ENSG00000134758:ENST00000578107:exon3:c.T278A:p.I93N;	0.0318582499902003	0.21
18	29693709	T	C	18	32113746	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.T278C:p.I93T;RNF138:NM_001191324:exon3:c.T278C:p.I93T;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.T278C:p.I93T;ENSG00000134758:ENST00000578914:exon3:c.T140C:p.I47T;ENSG00000134758:ENST00000261593:exon4:c.T278C:p.I93T;ENSG00000134758:ENST00000578107:exon3:c.T278C:p.I93T;	0.0110731160530862	0.198
18	29693709	T	G	18	32113746	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.T278G:p.I93S;RNF138:NM_001191324:exon3:c.T278G:p.I93S;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.T278G:p.I93S;ENSG00000134758:ENST00000578914:exon3:c.T140G:p.I47S;ENSG00000134758:ENST00000261593:exon4:c.T278G:p.I93S;ENSG00000134758:ENST00000578107:exon3:c.T278G:p.I93S;	0.0198662677697122	0.21
18	29693821	C	A	18	32113858	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.C390A:p.N130K;RNF138:NM_001191324:exon3:c.C390A:p.N130K;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.C390A:p.N130K;ENSG00000134758:ENST00000261593:exon4:c.C390A:p.N130K;	0.00215151219453947	0.058
18	29693821	C	G	18	32113858	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.C390G:p.N130K;RNF138:NM_001191324:exon3:c.C390G:p.N130K;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.C390G:p.N130K;ENSG00000134758:ENST00000261593:exon4:c.C390G:p.N130K;	0.00120292655931806	0.062
18	29693821	C	T	18	32113858	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_016271:exon4:c.C390T:p.N130N;RNF138:NM_001191324:exon3:c.C390T:p.N130N;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.C390T:p.N130N;ENSG00000134758:ENST00000261593:exon4:c.C390T:p.N130N;	0.00969139111985424	0.164
18	29693822	A	C	18	32113859	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.A391C:p.S131R;RNF138:NM_001191324:exon3:c.A391C:p.S131R;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.A391C:p.S131R;ENSG00000134758:ENST00000261593:exon4:c.A391C:p.S131R;	0.978093919984671	0.832
18	29693822	A	G	18	32113859	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.A391G:p.S131G;RNF138:NM_001191324:exon3:c.A391G:p.S131G;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.A391G:p.S131G;ENSG00000134758:ENST00000261593:exon4:c.A391G:p.S131G;	0.796756511921388	0.66
18	29693822	A	T	18	32113859	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.A391T:p.S131C;RNF138:NM_001191324:exon3:c.A391T:p.S131C;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.A391T:p.S131C;ENSG00000134758:ENST00000261593:exon4:c.A391T:p.S131C;	0.99082605181018	0.626
18	29693823	G	A	18	32113860	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.G392A:p.S131N;RNF138:NM_001191324:exon3:c.G392A:p.S131N;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.G392A:p.S131N;ENSG00000134758:ENST00000261593:exon4:c.G392A:p.S131N;	0.999916265876481	0.938
18	29693823	G	C	18	32113860	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.G392C:p.S131T;RNF138:NM_001191324:exon3:c.G392C:p.S131T;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.G392C:p.S131T;ENSG00000134758:ENST00000261593:exon4:c.G392C:p.S131T;	0.999731783210489	0.932
18	29693823	G	T	18	32113860	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon4:c.G392T:p.S131I;RNF138:NM_001191324:exon3:c.G392T:p.S131I;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon3:c.G392T:p.S131I;ENSG00000134758:ENST00000261593:exon4:c.G392T:p.S131I;	0.99976345849715	0.988
18	29693824	G	A	18	32113861	y	y	splicing	RNF138(NM_016271:exon4:c.392+1G>A;NM_001191324:exon3:c.392+1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.392+1G>A;ENST00000580499:exon3:c.392+1G>A)	.	.	0.999986675681007	0.94
18	29693824	G	C	18	32113861	y	y	splicing	RNF138(NM_016271:exon4:c.392+1G>C;NM_001191324:exon3:c.392+1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.392+1G>C;ENST00000580499:exon3:c.392+1G>C)	.	.	0.999986675681007	0.938
18	29693824	G	T	18	32113861	y	y	splicing	RNF138(NM_016271:exon4:c.392+1G>T;NM_001191324:exon3:c.392+1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.392+1G>T;ENST00000580499:exon3:c.392+1G>T)	.	.	0.999986675681007	0.94
18	29693825	T	A	18	32113862	y	y	splicing	RNF138(NM_016271:exon4:c.392+2T>A;NM_001191324:exon3:c.392+2T>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.392+2T>A;ENST00000580499:exon3:c.392+2T>A)	.	.	0.999981808176352	0.922
18	29693825	T	C	18	32113862	y	y	splicing	RNF138(NM_016271:exon4:c.392+2T>C;NM_001191324:exon3:c.392+2T>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.392+2T>C;ENST00000580499:exon3:c.392+2T>C)	.	.	0.983325169290419	0.574
18	29693825	T	G	18	32113862	y	y	splicing	RNF138(NM_016271:exon4:c.392+2T>G;NM_001191324:exon3:c.392+2T>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon4:c.392+2T>G;ENST00000580499:exon3:c.392+2T>G)	.	.	0.999981808176352	0.922
18	29693826	A	C	18	32113863	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.990087212511669	0.86
18	29693826	A	G	18	32113863	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.142760658054272	0.18
18	29693826	A	T	18	32113863	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.988648362253215	0.83
18	29693827	A	C	18	32113864	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.906937700356686	0.612
18	29693827	A	G	18	32113864	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.950064839844848	0.584
18	29693827	A	T	18	32113864	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.98046325381528	0.682
18	29693828	G	A	18	32113865	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.974091549523429	0.672
18	29693828	G	C	18	32113865	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.901893291183556	0.676
18	29693828	G	T	18	32113865	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.98125548517647	0.74
18	29693829	C	A	18	32113866	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.44378610858044E-4	0.012
18	29693829	C	G	18	32113866	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.01842389534917E-4	0.034
18	29693829	C	T	18	32113866	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	3.90609766740194E-5	0.008
18	29693830	A	C	18	32113867	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00278424957825301	0.004
18	29693830	A	G	18	32113867	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00278424957825301	0.01
18	29693830	A	T	18	32113867	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00174930048609264	0.008
18	29693831	A	C	18	32113868	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.9096691494675E-4	0.0
18	29693831	A	G	18	32113868	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.9096691494675E-4	0.002
18	29693831	A	T	18	32113868	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.8898060314844E-4	0.006
18	29703469	G	A	18	32123506	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	5.09007009296289E-5	0.004
18	29703469	G	C	18	32123506	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	1.48161556074388E-5	0.0
18	29703469	G	T	18	32123506	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	1.30918388416125E-5	0.002
18	29703470	T	A	18	32123507	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.999943017776022	0.974
18	29703470	T	C	18	32123507	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.13445003793536	0.406
18	29703470	T	G	18	32123507	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.966950392113137	0.818
18	29703471	G	A	18	32123508	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.0036649967493526	0.158
18	29703471	G	C	18	32123508	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	2.80546021855558E-4	0.076
18	29703471	G	T	18	32123508	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	3.74390765873567E-4	0.092
18	29703472	C	A	18	32123509	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.0532734910894915	0.13
18	29703472	C	G	18	32123509	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.0495381795107957	0.138
18	29703472	C	T	18	32123509	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.00206193711838729	0.092
18	29703473	T	A	18	32123510	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.0314496715442792	0.302
18	29703473	T	C	18	32123510	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	7.5141513230047E-5	0.014
18	29703473	T	G	18	32123510	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.0078565713862051	0.282
18	29703474	T	A	18	32123511	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.819302711999019	0.698
18	29703474	T	C	18	32123511	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	3.19436496261081E-4	0.06
18	29703474	T	G	18	32123511	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.820837094227603	0.62
18	29703475	C	A	18	32123512	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.0106040637773683	0.352
18	29703475	C	G	18	32123512	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.0177741602920185	0.374
18	29703475	C	T	18	32123512	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	2.06310580963858E-4	0.106
18	29703476	T	A	18	32123513	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.996002147284325	0.922
18	29703476	T	C	18	32123513	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.113963923777626	0.296
18	29703476	T	G	18	32123513	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.997400058863301	0.838
18	29703477	T	A	18	32123514	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	1.93390223539065E-4	0.054
18	29703477	T	C	18	32123514	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	4.37641501436265E-4	0.202
18	29703477	T	G	18	32123514	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	5.83448058250258E-4	0.242
18	29703478	A	C	18	32123515	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	4.37030026074194E-4	0.056
18	29703478	A	G	18	32123515	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.299970120240209	0.37
18	29703478	A	T	18	32123515	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	3.30401681597446E-4	0.03
18	29703479	A	C	18	32123516	y	y	splicing	RNF138(NM_016271:exon5:c.393-2A>C;NM_001191324:exon4:c.393-2A>C;NM_198128:exon2:c.111-2A>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.393-2A>C;ENST00000257190:exon2:c.111-2A>C)	.	.	0.999954785339841	0.932
18	29703479	A	G	18	32123516	y	y	splicing	RNF138(NM_016271:exon5:c.393-2A>G;NM_001191324:exon4:c.393-2A>G;NM_198128:exon2:c.111-2A>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.393-2A>G;ENST00000257190:exon2:c.111-2A>G)	.	.	0.999954785339841	0.932
18	29703479	A	T	18	32123516	y	y	splicing	RNF138(NM_016271:exon5:c.393-2A>T;NM_001191324:exon4:c.393-2A>T;NM_198128:exon2:c.111-2A>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.393-2A>T;ENST00000257190:exon2:c.111-2A>T)	.	.	0.999954785339841	0.928
18	29703480	G	A	18	32123517	y	y	splicing	RNF138(NM_016271:exon5:c.393-1G>A;NM_001191324:exon4:c.393-1G>A;NM_198128:exon2:c.111-1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.393-1G>A;ENST00000257190:exon2:c.111-1G>A)	.	.	0.999944340032687	0.92
18	29703480	G	C	18	32123517	y	y	splicing	RNF138(NM_016271:exon5:c.393-1G>C;NM_001191324:exon4:c.393-1G>C;NM_198128:exon2:c.111-1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.393-1G>C;ENST00000257190:exon2:c.111-1G>C)	.	.	0.999944340032687	0.924
18	29703480	G	T	18	32123517	y	y	splicing	RNF138(NM_016271:exon5:c.393-1G>T;NM_001191324:exon4:c.393-1G>T;NM_198128:exon2:c.111-1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.393-1G>T;ENST00000257190:exon2:c.111-1G>T)	.	.	0.999944340032687	0.924
18	29703481	C	A	18	32123518	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon5:c.C393A:p.S131R;RNF138:NM_001191324:exon4:c.C393A:p.S131R;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.C393A:p.S131R;	1.11526230909188E-5	0.028
18	29703481	C	G	18	32123518	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_016271:exon5:c.C393G:p.S131R;RNF138:NM_001191324:exon4:c.C393G:p.S131R;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.C393G:p.S131R;	4.37763871077188E-5	0.084
18	29703481	C	T	18	32123518	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon2:c.C111T:p.V37V;RNF138:NM_016271:exon5:c.C393T:p.S131S;RNF138:NM_001191324:exon4:c.C393T:p.S131S;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.C393T:p.S131S;ENSG00000134758:ENST00000257190:exon2:c.C111T:p.V37V;	2.43658693527769E-4	0.224
18	29703482	A	C	18	32123519	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.A112C:p.N38H;RNF138:NM_016271:exon5:c.A394C:p.N132H;RNF138:NM_001191324:exon4:c.A394C:p.N132H;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A394C:p.N132H;ENSG00000134758:ENST00000257190:exon2:c.A112C:p.N38H;	0.837444969359345	0.81
18	29703482	A	G	18	32123519	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.A112G:p.N38D;RNF138:NM_016271:exon5:c.A394G:p.N132D;RNF138:NM_001191324:exon4:c.A394G:p.N132D;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A394G:p.N132D;ENSG00000134758:ENST00000257190:exon2:c.A112G:p.N38D;	0.198392110616658	0.484
18	29703482	A	T	18	32123519	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.A112T:p.N38Y;RNF138:NM_016271:exon5:c.A394T:p.N132Y;RNF138:NM_001191324:exon4:c.A394T:p.N132Y;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A394T:p.N132Y;ENSG00000134758:ENST00000257190:exon2:c.A112T:p.N38Y;	0.79427991400617	0.714
18	29703535	A	C	18	32123572	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon2:c.A165C:p.T55T;RNF138:NM_016271:exon5:c.A447C:p.T149T;RNF138:NM_001191324:exon4:c.A447C:p.T149T;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A447C:p.T149T;ENSG00000134758:ENST00000257190:exon2:c.A165C:p.T55T;ENSG00000134758:ENST00000577999:exon1:c.A48C:p.T16T;	0.154074556998948	0.418
18	29703535	A	G	18	32123572	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon2:c.A165G:p.T55T;RNF138:NM_016271:exon5:c.A447G:p.T149T;RNF138:NM_001191324:exon4:c.A447G:p.T149T;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A447G:p.T149T;ENSG00000134758:ENST00000257190:exon2:c.A165G:p.T55T;ENSG00000134758:ENST00000577999:exon1:c.A48G:p.T16T;	0.259272182257689	0.362
18	29703535	A	T	18	32123572	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon2:c.A165T:p.T55T;RNF138:NM_016271:exon5:c.A447T:p.T149T;RNF138:NM_001191324:exon4:c.A447T:p.T149T;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A447T:p.T149T;ENSG00000134758:ENST00000257190:exon2:c.A165T:p.T55T;ENSG00000134758:ENST00000577999:exon1:c.A48T:p.T16T;	0.931975434989285	0.468
18	29703536	A	C	18	32123573	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.A166C:p.S56R;RNF138:NM_016271:exon5:c.A448C:p.S150R;RNF138:NM_001191324:exon4:c.A448C:p.S150R;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A448C:p.S150R;ENSG00000134758:ENST00000257190:exon2:c.A166C:p.S56R;ENSG00000134758:ENST00000577999:exon1:c.A49C:p.S17R;	0.509528143647207	0.614
18	29703536	A	G	18	32123573	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.A166G:p.S56G;RNF138:NM_016271:exon5:c.A448G:p.S150G;RNF138:NM_001191324:exon4:c.A448G:p.S150G;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A448G:p.S150G;ENSG00000134758:ENST00000257190:exon2:c.A166G:p.S56G;ENSG00000134758:ENST00000577999:exon1:c.A49G:p.S17G;	0.317804433585158	0.498
18	29703536	A	T	18	32123573	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.A166T:p.S56C;RNF138:NM_016271:exon5:c.A448T:p.S150C;RNF138:NM_001191324:exon4:c.A448T:p.S150C;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.A448T:p.S150C;ENSG00000134758:ENST00000257190:exon2:c.A166T:p.S56C;ENSG00000134758:ENST00000577999:exon1:c.A49T:p.S17C;	0.330734165191183	0.474
18	29703537	G	A	18	32123574	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.G167A:p.S56N;RNF138:NM_016271:exon5:c.G449A:p.S150N;RNF138:NM_001191324:exon4:c.G449A:p.S150N;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.G449A:p.S150N;ENSG00000134758:ENST00000257190:exon2:c.G167A:p.S56N;ENSG00000134758:ENST00000577999:exon1:c.G50A:p.S17N;	0.999816312536873	0.962
18	29703537	G	C	18	32123574	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.G167C:p.S56T;RNF138:NM_016271:exon5:c.G449C:p.S150T;RNF138:NM_001191324:exon4:c.G449C:p.S150T;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.G449C:p.S150T;ENSG00000134758:ENST00000257190:exon2:c.G167C:p.S56T;ENSG00000134758:ENST00000577999:exon1:c.G50C:p.S17T;	0.999610532121804	0.892
18	29703537	G	T	18	32123574	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon2:c.G167T:p.S56I;RNF138:NM_016271:exon5:c.G449T:p.S150I;RNF138:NM_001191324:exon4:c.G449T:p.S150I;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon5:c.G449T:p.S150I;ENSG00000134758:ENST00000257190:exon2:c.G167T:p.S56I;ENSG00000134758:ENST00000577999:exon1:c.G50T:p.S17I;	0.999768749457992	0.98
18	29703538	G	A	18	32123575	y	y	splicing	RNF138(NM_016271:exon5:c.449+1G>A;NM_001191324:exon4:c.449+1G>A;NM_198128:exon2:c.167+1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.449+1G>A;ENST00000257190:exon2:c.167+1G>A;ENST00000577999:exon1:c.50+1G>A)	.	.	0.999985532734767	0.936
18	29703538	G	C	18	32123575	y	y	splicing	RNF138(NM_016271:exon5:c.449+1G>C;NM_001191324:exon4:c.449+1G>C;NM_198128:exon2:c.167+1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.449+1G>C;ENST00000257190:exon2:c.167+1G>C;ENST00000577999:exon1:c.50+1G>C)	.	.	0.999985532734767	0.938
18	29703538	G	T	18	32123575	y	y	splicing	RNF138(NM_016271:exon5:c.449+1G>T;NM_001191324:exon4:c.449+1G>T;NM_198128:exon2:c.167+1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.449+1G>T;ENST00000257190:exon2:c.167+1G>T;ENST00000577999:exon1:c.50+1G>T)	.	.	0.999985532734767	0.928
18	29703539	T	A	18	32123576	y	y	splicing	RNF138(NM_016271:exon5:c.449+2T>A;NM_001191324:exon4:c.449+2T>A;NM_198128:exon2:c.167+2T>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.449+2T>A;ENST00000257190:exon2:c.167+2T>A;ENST00000577999:exon1:c.50+2T>A)	.	.	0.999988247793601	0.926
18	29703539	T	C	18	32123576	y	y	splicing	RNF138(NM_016271:exon5:c.449+2T>C;NM_001191324:exon4:c.449+2T>C;NM_198128:exon2:c.167+2T>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.449+2T>C;ENST00000257190:exon2:c.167+2T>C;ENST00000577999:exon1:c.50+2T>C)	.	.	0.98918007292081	0.632
18	29703539	T	G	18	32123576	y	y	splicing	RNF138(NM_016271:exon5:c.449+2T>G;NM_001191324:exon4:c.449+2T>G;NM_198128:exon2:c.167+2T>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon5:c.449+2T>G;ENST00000257190:exon2:c.167+2T>G;ENST00000577999:exon1:c.50+2T>G)	.	.	0.999988247793601	0.926
18	29703540	A	C	18	32123577	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.997575522388661	0.962
18	29703540	A	G	18	32123577	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.670163736914143	0.366
18	29703540	A	T	18	32123577	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.992875584419779	0.908
18	29703541	A	C	18	32123578	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.968779370467238	0.774
18	29703541	A	G	18	32123578	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.976675527054692	0.81
18	29703541	A	T	18	32123578	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.977767324728221	0.828
18	29703542	G	A	18	32123579	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.704677994009269	0.432
18	29703542	G	C	18	32123579	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.375420341966167	0.432
18	29703542	G	T	18	32123579	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.865040315185577	0.434
18	29703543	C	A	18	32123580	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	1.15037082907912E-4	0.03
18	29703543	C	G	18	32123580	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	2.46316606513518E-4	0.064
18	29703543	C	T	18	32123580	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	4.27574695376621E-5	0.0
18	29703544	T	A	18	32123581	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	7.69968134076753E-4	0.0
18	29703544	T	C	18	32123581	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	9.80257671126134E-4	0.006
18	29703544	T	G	18	32123581	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	9.80257671126134E-4	0.004
18	29703545	T	A	18	32123582	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.00308294076534555	0.032
18	29703545	T	C	18	32123582	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.00158195881612626	0.014
18	29703545	T	G	18	32123582	y	y	intronic	RNF138	.	.	ncRNA_intronic	ENSG00000263393	.	.	0.00158195881612626	0.012
18	29704685	A	C	18	32124722	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	4.45935845925742E-4	0.022
18	29704685	A	G	18	32124722	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999770183062005	0.986
18	29704685	A	T	18	32124722	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	4.36093517684148E-4	0.044
18	29704686	T	A	18	32124723	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.668653757553861	0.556
18	29704686	T	C	18	32124723	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.335167255614334	0.43
18	29704686	T	G	18	32124723	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999967501337108	0.974
18	29704687	T	A	18	32124724	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999936165957405	0.962
18	29704687	T	C	18	32124724	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.0387511610033177	0.208
18	29704687	T	G	18	32124724	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.951148679735892	0.802
18	29704688	G	A	18	32124725	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00327347935944235	0.116
18	29704688	G	C	18	32124725	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	6.22324660413101E-5	0.002
18	29704688	G	T	18	32124725	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	6.22324660413101E-5	0.08
18	29704689	T	A	18	32124726	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.355867288308517	0.358
18	29704689	T	C	18	32124726	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	5.86296522192381E-4	0.052
18	29704689	T	G	18	32124726	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.092368061243409	0.416
18	29704690	T	A	18	32124727	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.211547719132671	0.358
18	29704690	T	C	18	32124727	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	7.72313996113776E-4	0.066
18	29704690	T	G	18	32124727	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.25900845616082	0.328
18	29704691	T	A	18	32124728	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.312430212158579	0.536
18	29704691	T	C	18	32124728	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.58789283620641E-4	0.014
18	29704691	T	G	18	32124728	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.293449407943381	0.53
18	29704692	T	A	18	32124729	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.102105686378274	0.43
18	29704692	T	C	18	32124729	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00318014512738237	0.062
18	29704692	T	G	18	32124729	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.0480995104977593	0.404
18	29704693	A	C	18	32124730	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	2.51638080541052E-5	0.072
18	29704693	A	G	18	32124730	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	9.3856691490883E-5	0.038
18	29704693	A	T	18	32124730	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	1.76145657214608E-5	0.002
18	29704694	T	A	18	32124731	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.0013917359372527	0.23
18	29704694	T	C	18	32124731	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	2.47460649528601E-5	0.066
18	29704694	T	G	18	32124731	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.989290104982293	0.664
18	29704695	A	C	18	32124732	y	y	splicing	RNF138(NM_016271:exon6:c.450-2A>C;NM_001191324:exon5:c.450-2A>C;NM_198128:exon3:c.168-2A>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.450-2A>C;ENST00000257190:exon3:c.168-2A>C;ENST00000580499:exon4:c.393-2A>C;ENST00000577999:exon2:c.51-2A>C)	.	.	0.999976786905603	0.778
18	29704695	A	G	18	32124732	y	y	splicing	RNF138(NM_016271:exon6:c.450-2A>G;NM_001191324:exon5:c.450-2A>G;NM_198128:exon3:c.168-2A>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.450-2A>G;ENST00000257190:exon3:c.168-2A>G;ENST00000580499:exon4:c.393-2A>G;ENST00000577999:exon2:c.51-2A>G)	.	.	0.999976786905603	0.778
18	29704695	A	T	18	32124732	y	y	splicing	RNF138(NM_016271:exon6:c.450-2A>T;NM_001191324:exon5:c.450-2A>T;NM_198128:exon3:c.168-2A>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.450-2A>T;ENST00000257190:exon3:c.168-2A>T;ENST00000580499:exon4:c.393-2A>T;ENST00000577999:exon2:c.51-2A>T)	.	.	0.999975484273506	0.776
18	29704696	G	A	18	32124733	y	y	splicing	RNF138(NM_016271:exon6:c.450-1G>A;NM_001191324:exon5:c.450-1G>A;NM_198128:exon3:c.168-1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.450-1G>A;ENST00000257190:exon3:c.168-1G>A;ENST00000580499:exon4:c.393-1G>A;ENST00000577999:exon2:c.51-1G>A)	.	.	0.999972578019126	0.778
18	29704696	G	C	18	32124733	y	y	splicing	RNF138(NM_016271:exon6:c.450-1G>C;NM_001191324:exon5:c.450-1G>C;NM_198128:exon3:c.168-1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.450-1G>C;ENST00000257190:exon3:c.168-1G>C;ENST00000580499:exon4:c.393-1G>C;ENST00000577999:exon2:c.51-1G>C)	.	.	0.999978333313671	0.788
18	29704696	G	T	18	32124733	y	y	splicing	RNF138(NM_016271:exon6:c.450-1G>T;NM_001191324:exon5:c.450-1G>T;NM_198128:exon3:c.168-1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.450-1G>T;ENST00000257190:exon3:c.168-1G>T;ENST00000580499:exon4:c.393-1G>T;ENST00000577999:exon2:c.51-1G>T)	.	.	0.999972578019126	0.782
18	29704697	T	A	18	32124734	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.T168A:p.S56R;RNF138:NM_016271:exon6:c.T450A:p.S150R;RNF138:NM_001191324:exon5:c.T450A:p.S150R;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon4:c.T393A:p.S131R;ENSG00000134758:ENST00000261593:exon6:c.T450A:p.S150R;ENSG00000134758:ENST00000257190:exon3:c.T168A:p.S56R;ENSG00000134758:ENST00000577999:exon2:c.T51A:p.S17R;	1.85694903814375E-4	0.0
18	29704697	T	C	18	32124734	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon3:c.T168C:p.S56S;RNF138:NM_016271:exon6:c.T450C:p.S150S;RNF138:NM_001191324:exon5:c.T450C:p.S150S;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000580499:exon4:c.T393C:p.S131S;ENSG00000134758:ENST00000261593:exon6:c.T450C:p.S150S;ENSG00000134758:ENST00000257190:exon3:c.T168C:p.S56S;ENSG00000134758:ENST00000577999:exon2:c.T51C:p.S17S;	4.99476399531122E-4	0.072
18	29704697	T	G	18	32124734	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.T168G:p.S56R;RNF138:NM_016271:exon6:c.T450G:p.S150R;RNF138:NM_001191324:exon5:c.T450G:p.S150R;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon4:c.T393G:p.S131R;ENSG00000134758:ENST00000261593:exon6:c.T450G:p.S150R;ENSG00000134758:ENST00000257190:exon3:c.T168G:p.S56R;ENSG00000134758:ENST00000577999:exon2:c.T51G:p.S17R;	0.00184908643968203	0.222
18	29704698	T	A	18	32124735	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.T169A:p.S57T;RNF138:NM_016271:exon6:c.T451A:p.S151T;RNF138:NM_001191324:exon5:c.T451A:p.S151T;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon4:c.T394A:p.S132T;ENSG00000134758:ENST00000261593:exon6:c.T451A:p.S151T;ENSG00000134758:ENST00000257190:exon3:c.T169A:p.S57T;ENSG00000134758:ENST00000577999:exon2:c.T52A:p.S18T;	0.0040582438919196	0.1
18	29704698	T	C	18	32124735	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.T169C:p.S57P;RNF138:NM_016271:exon6:c.T451C:p.S151P;RNF138:NM_001191324:exon5:c.T451C:p.S151P;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon4:c.T394C:p.S132P;ENSG00000134758:ENST00000261593:exon6:c.T451C:p.S151P;ENSG00000134758:ENST00000257190:exon3:c.T169C:p.S57P;ENSG00000134758:ENST00000577999:exon2:c.T52C:p.S18P;	0.00223038222691143	0.062
18	29704698	T	G	18	32124735	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.T169G:p.S57A;RNF138:NM_016271:exon6:c.T451G:p.S151A;RNF138:NM_001191324:exon5:c.T451G:p.S151A;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000580499:exon4:c.T394G:p.S132A;ENSG00000134758:ENST00000261593:exon6:c.T451G:p.S151A;ENSG00000134758:ENST00000257190:exon3:c.T169G:p.S57A;ENSG00000134758:ENST00000577999:exon2:c.T52G:p.S18A;	0.00303327028701338	0.064
18	29704806	G	A	18	32124843	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.G277A:p.V93M;RNF138:NM_016271:exon6:c.G559A:p.V187M;RNF138:NM_001191324:exon5:c.G559A:p.V187M;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.G559A:p.V187M;ENSG00000134758:ENST00000257190:exon3:c.G277A:p.V93M;ENSG00000134758:ENST00000577999:exon2:c.G160A:p.V54M;	0.771422749870621	0.63
18	29704806	G	C	18	32124843	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.G277C:p.V93L;RNF138:NM_016271:exon6:c.G559C:p.V187L;RNF138:NM_001191324:exon5:c.G559C:p.V187L;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.G559C:p.V187L;ENSG00000134758:ENST00000257190:exon3:c.G277C:p.V93L;ENSG00000134758:ENST00000577999:exon2:c.G160C:p.V54L;	0.933113879257994	0.7
18	29704806	G	T	18	32124843	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.G277T:p.V93L;RNF138:NM_016271:exon6:c.G559T:p.V187L;RNF138:NM_001191324:exon5:c.G559T:p.V187L;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.G559T:p.V187L;ENSG00000134758:ENST00000257190:exon3:c.G277T:p.V93L;ENSG00000134758:ENST00000577999:exon2:c.G160T:p.V54L;	0.973172968796894	0.75
18	29704807	T	A	18	32124844	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.T278A:p.V93E;RNF138:NM_016271:exon6:c.T560A:p.V187E;RNF138:NM_001191324:exon5:c.T560A:p.V187E;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.T560A:p.V187E;ENSG00000134758:ENST00000257190:exon3:c.T278A:p.V93E;ENSG00000134758:ENST00000577999:exon2:c.T161A:p.V54E;	0.625585542426855	0.66
18	29704807	T	C	18	32124844	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.T278C:p.V93A;RNF138:NM_016271:exon6:c.T560C:p.V187A;RNF138:NM_001191324:exon5:c.T560C:p.V187A;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.T560C:p.V187A;ENSG00000134758:ENST00000257190:exon3:c.T278C:p.V93A;ENSG00000134758:ENST00000577999:exon2:c.T161C:p.V54A;	0.89686674146731	0.814
18	29704807	T	G	18	32124844	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon3:c.T278G:p.V93G;RNF138:NM_016271:exon6:c.T560G:p.V187G;RNF138:NM_001191324:exon5:c.T560G:p.V187G;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.T560G:p.V187G;ENSG00000134758:ENST00000257190:exon3:c.T278G:p.V93G;ENSG00000134758:ENST00000577999:exon2:c.T161G:p.V54G;	0.91488965970619	0.886
18	29704808	G	A	18	32124845	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon3:c.G279A:p.V93V;RNF138:NM_016271:exon6:c.G561A:p.V187V;RNF138:NM_001191324:exon5:c.G561A:p.V187V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.G561A:p.V187V;ENSG00000134758:ENST00000257190:exon3:c.G279A:p.V93V;ENSG00000134758:ENST00000577999:exon2:c.G162A:p.V54V;	0.999510031774827	0.98
18	29704808	G	C	18	32124845	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon3:c.G279C:p.V93V;RNF138:NM_016271:exon6:c.G561C:p.V187V;RNF138:NM_001191324:exon5:c.G561C:p.V187V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.G561C:p.V187V;ENSG00000134758:ENST00000257190:exon3:c.G279C:p.V93V;ENSG00000134758:ENST00000577999:exon2:c.G162C:p.V54V;	0.999500196001761	0.892
18	29704808	G	T	18	32124845	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon3:c.G279T:p.V93V;RNF138:NM_016271:exon6:c.G561T:p.V187V;RNF138:NM_001191324:exon5:c.G561T:p.V187V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon6:c.G561T:p.V187V;ENSG00000134758:ENST00000257190:exon3:c.G279T:p.V93V;ENSG00000134758:ENST00000577999:exon2:c.G162T:p.V54V;	0.999021986591569	0.928
18	29704809	G	A	18	32124846	y	y	splicing	RNF138(NM_016271:exon6:c.561+1G>A;NM_001191324:exon5:c.561+1G>A;NM_198128:exon3:c.279+1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.561+1G>A;ENST00000257190:exon3:c.279+1G>A;ENST00000577999:exon2:c.162+1G>A)	.	.	0.999981760802075	0.936
18	29704809	G	C	18	32124846	y	y	splicing	RNF138(NM_016271:exon6:c.561+1G>C;NM_001191324:exon5:c.561+1G>C;NM_198128:exon3:c.279+1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.561+1G>C;ENST00000257190:exon3:c.279+1G>C;ENST00000577999:exon2:c.162+1G>C)	.	.	0.999981760802075	0.936
18	29704809	G	T	18	32124846	y	y	splicing	RNF138(NM_016271:exon6:c.561+1G>T;NM_001191324:exon5:c.561+1G>T;NM_198128:exon3:c.279+1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.561+1G>T;ENST00000257190:exon3:c.279+1G>T;ENST00000577999:exon2:c.162+1G>T)	.	.	0.999981760802075	0.936
18	29704810	T	A	18	32124847	y	y	splicing	RNF138(NM_016271:exon6:c.561+2T>A;NM_001191324:exon5:c.561+2T>A;NM_198128:exon3:c.279+2T>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.561+2T>A;ENST00000257190:exon3:c.279+2T>A;ENST00000577999:exon2:c.162+2T>A)	.	.	0.999989917668626	0.926
18	29704810	T	C	18	32124847	y	y	splicing	RNF138(NM_016271:exon6:c.561+2T>C;NM_001191324:exon5:c.561+2T>C;NM_198128:exon3:c.279+2T>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.561+2T>C;ENST00000257190:exon3:c.279+2T>C;ENST00000577999:exon2:c.162+2T>C)	.	.	0.988809971481602	0.626
18	29704810	T	G	18	32124847	y	y	splicing	RNF138(NM_016271:exon6:c.561+2T>G;NM_001191324:exon5:c.561+2T>G;NM_198128:exon3:c.279+2T>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon6:c.561+2T>G;ENST00000257190:exon3:c.279+2T>G;ENST00000577999:exon2:c.162+2T>G)	.	.	0.999989917668626	0.926
18	29704811	A	C	18	32124848	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.993709022553575	0.87
18	29704811	A	G	18	32124848	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00827735810529836	0.16
18	29704811	A	T	18	32124848	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.956170293291313	0.74
18	29704812	A	C	18	32124849	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.10943377274136	0.248
18	29704812	A	G	18	32124849	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.836262916831593	0.374
18	29704812	A	T	18	32124849	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.594170930120534	0.326
18	29704813	G	A	18	32124850	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.999831715203194	0.904
18	29704813	G	C	18	32124850	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.997763719188832	0.904
18	29704813	G	T	18	32124850	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.998738131224096	0.806
18	29704814	T	A	18	32124851	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.44538383191536	0.598
18	29704814	T	C	18	32124851	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.261495614919122	0.646
18	29704814	T	G	18	32124851	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.292381560178173	0.432
18	29704815	A	C	18	32124852	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00676797796995896	0.036
18	29704815	A	G	18	32124852	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00561773296434941	0.04
18	29704815	A	T	18	32124852	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	0.00868831376424339	0.042
18	29704816	C	A	18	32124853	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	5.91848111353002E-5	0.004
18	29704816	C	G	18	32124853	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	5.91848111353002E-5	0.004
18	29704816	C	T	18	32124853	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758	.	.	7.76074896990115E-5	0.002
18	29705186	A	C	18	32125223	n	y	intronic	RNF138	.	.	UTR3	ENSG00000141441	.	.	9.49551173556722E-4	0.016
18	29705186	A	G	18	32125223	n	y	intronic	RNF138	.	.	UTR3	ENSG00000141441	.	.	9.49551173556722E-4	0.016
18	29705186	A	T	18	32125223	n	y	intronic	RNF138	.	.	UTR3	ENSG00000141441	.	.	0.0012164450463803	0.012
18	29705187	C	A	18	32125224	n	y	intronic	RNF138	.	.	UTR3	ENSG00000141441	.	.	7.52881759733747E-5	0.006
18	29705187	C	G	18	32125224	n	y	intronic	RNF138	.	.	UTR3	ENSG00000141441	.	.	1.00675832680685E-4	0.004
18	29705187	C	T	18	32125224	n	y	intronic	RNF138	.	.	UTR3	ENSG00000141441	.	.	7.52881759733747E-5	0.0
18	29705188	C	A	18	32125225	n	y	intronic	RNF138	.	.	splicing	ENSG00000141441(ENST00000583696:exon4:c.159-1G>T)	.	.	8.71037690926497E-5	0.004
18	29705188	C	G	18	32125225	n	y	intronic	RNF138	.	.	splicing	ENSG00000141441(ENST00000583696:exon4:c.159-1G>C)	.	.	8.71037690926497E-5	0.0
18	29705188	C	T	18	32125225	n	y	intronic	RNF138	.	.	splicing	ENSG00000141441(ENST00000583696:exon4:c.159-1G>A)	.	.	6.51383879749987E-5	0.006
18	29705189	T	A	18	32125226	n	y	intronic	RNF138	.	.	splicing	ENSG00000141441(ENST00000583696:exon4:c.159-2A>T)	.	.	4.1020973109669E-5	0.0
18	29705189	T	C	18	32125226	n	y	intronic	RNF138	.	.	splicing	ENSG00000141441(ENST00000583696:exon4:c.159-2A>G)	.	.	2.256915070725E-5	0.0
18	29705189	T	G	18	32125226	n	y	intronic	RNF138	.	.	splicing	ENSG00000141441(ENST00000583696:exon4:c.159-2A>C)	.	.	2.256915070725E-5	0.0
18	29705190	G	A	18	32125227	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.68219155180855E-5	0.002
18	29705190	G	C	18	32125227	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.68219155180855E-5	0.002
18	29705190	G	T	18	32125227	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.68219155180855E-5	0.002
18	29705191	T	A	18	32125228	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.22311398176536E-5	0.006
18	29705191	T	C	18	32125228	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.22311398176536E-5	0.008
18	29705191	T	G	18	32125228	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.22311398176536E-5	0.008
18	29705192	A	C	18	32125229	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	8.44656497212392E-5	0.0
18	29705192	A	G	18	32125229	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	8.44656497212392E-5	0.0
18	29705192	A	T	18	32125229	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	8.44656497212392E-5	0.0
18	29705193	A	C	18	32125230	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	6.99263190704948E-5	0.0
18	29705193	A	G	18	32125230	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	6.99263190704948E-5	0.0
18	29705193	A	T	18	32125230	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	6.99263190704948E-5	0.0
18	29705194	G	A	18	32125231	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.57076726553018E-5	0.0
18	29705194	G	C	18	32125231	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	4.7749166663215E-5	0.002
18	29705194	G	T	18	32125231	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	4.7749166663215E-5	0.022
18	29705195	T	A	18	32125232	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.29786743479643E-5	0.0
18	29705195	T	C	18	32125232	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.13503796622452E-5	0.0
18	29705195	T	G	18	32125232	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.13503796622452E-5	0.0
18	29705196	A	C	18	32125233	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.13536747317882E-5	0.012
18	29705196	A	G	18	32125233	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.13536747317882E-5	0.012
18	29705196	A	T	18	32125233	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.13536747317882E-5	0.012
18	29705197	A	C	18	32125234	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.86867110297081E-4	0.044
18	29705197	A	G	18	32125234	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.86867110297081E-4	0.044
18	29705197	A	T	18	32125234	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.71068638037575E-4	0.046
18	29705198	G	A	18	32125235	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.69930370103191E-5	0.0
18	29705198	G	C	18	32125235	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.69930370103191E-5	0.0
18	29705198	G	T	18	32125235	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.69930370103191E-5	0.0
18	29705199	A	C	18	32125236	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.71068638037575E-4	0.026
18	29705199	A	G	18	32125236	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.71068638037575E-4	0.026
18	29705199	A	T	18	32125236	n	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.63629494390912E-4	0.02
18	29706644	T	A	18	32126681	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.999877571861727	0.87
18	29706644	T	C	18	32126681	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	8.29292932319205E-4	0.172
18	29706644	T	G	18	32126681	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00934070815143582	0.292
18	29706645	G	A	18	32126682	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00101035999309252	0.084
18	29706645	G	C	18	32126682	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	5.97014087402369E-4	0.094
18	29706645	G	T	18	32126682	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.48956139739949E-4	0.042
18	29706646	T	A	18	32126683	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.955483459344018	0.546
18	29706646	T	C	18	32126683	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.104785955865304	0.402
18	29706646	T	G	18	32126683	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.91245132047446	0.538
18	29706647	T	A	18	32126684	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.146330500546984	0.236
18	29706647	T	C	18	32126684	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.0107621050934491	0.184
18	29706647	T	G	18	32126684	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.053067196637443	0.202
18	29706648	T	A	18	32126685	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.199577845401686	0.348
18	29706648	T	C	18	32126685	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00847676785779851	0.088
18	29706648	T	G	18	32126685	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.144898640942775	0.264
18	29706649	C	A	18	32126686	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00114768339065266	0.066
18	29706649	C	G	18	32126686	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00296198603068386	0.048
18	29706649	C	T	18	32126686	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	1.30303893463029E-4	0.004
18	29706650	T	A	18	32126687	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.132119992196888	0.29
18	29706650	T	C	18	32126687	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00200197625463008	0.112
18	29706650	T	G	18	32126687	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.137334795307845	0.356
18	29706651	T	A	18	32126688	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00138128044748756	0.278
18	29706651	T	C	18	32126688	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.38314145557126E-4	0.036
18	29706651	T	G	18	32126688	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.0080232204987472	0.316
18	29706652	A	C	18	32126689	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	1.19230192426964E-4	0.032
18	29706652	A	G	18	32126689	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.68234298605226E-4	0.082
18	29706652	A	T	18	32126689	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	6.07720102406349E-5	0.026
18	29706653	T	A	18	32126690	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.572141790368323	0.514
18	29706653	T	C	18	32126690	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00211654998206505	0.074
18	29706653	T	G	18	32126690	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.999125933968065	0.85
18	29706654	A	C	18	32126691	y	y	splicing	RNF138(NM_016271:exon7:c.562-2A>C;NM_001191324:exon6:c.562-2A>C;NM_198128:exon4:c.280-2A>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.562-2A>C;ENST00000257190:exon4:c.280-2A>C)	.	.	0.999989917668626	0.944
18	29706654	A	G	18	32126691	y	y	splicing	RNF138(NM_016271:exon7:c.562-2A>G;NM_001191324:exon6:c.562-2A>G;NM_198128:exon4:c.280-2A>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.562-2A>G;ENST00000257190:exon4:c.280-2A>G)	.	.	0.999989917668626	0.944
18	29706654	A	T	18	32126691	y	y	splicing	RNF138(NM_016271:exon7:c.562-2A>T;NM_001191324:exon6:c.562-2A>T;NM_198128:exon4:c.280-2A>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.562-2A>T;ENST00000257190:exon4:c.280-2A>T)	.	.	0.999989917668626	0.944
18	29706655	G	A	18	32126692	y	y	splicing	RNF138(NM_016271:exon7:c.562-1G>A;NM_001191324:exon6:c.562-1G>A;NM_198128:exon4:c.280-1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.562-1G>A;ENST00000257190:exon4:c.280-1G>A)	.	.	0.999986675681007	0.95
18	29706655	G	C	18	32126692	y	y	splicing	RNF138(NM_016271:exon7:c.562-1G>C;NM_001191324:exon6:c.562-1G>C;NM_198128:exon4:c.280-1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.562-1G>C;ENST00000257190:exon4:c.280-1G>C)	.	.	0.999986675681007	0.95
18	29706655	G	T	18	32126692	y	y	splicing	RNF138(NM_016271:exon7:c.562-1G>T;NM_001191324:exon6:c.562-1G>T;NM_198128:exon4:c.280-1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.562-1G>T;ENST00000257190:exon4:c.280-1G>T)	.	.	0.999986675681007	0.95
18	29706656	A	C	18	32126693	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.A280C:p.T94P;RNF138:NM_016271:exon7:c.A562C:p.T188P;RNF138:NM_001191324:exon6:c.A562C:p.T188P;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.A562C:p.T188P;ENSG00000134758:ENST00000257190:exon4:c.A280C:p.T94P;	0.408609089193783	0.5
18	29706656	A	G	18	32126693	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.A280G:p.T94A;RNF138:NM_016271:exon7:c.A562G:p.T188A;RNF138:NM_001191324:exon6:c.A562G:p.T188A;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.A562G:p.T188A;ENSG00000134758:ENST00000257190:exon4:c.A280G:p.T94A;	0.0561793684084648	0.358
18	29706656	A	T	18	32126693	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.A280T:p.T94S;RNF138:NM_016271:exon7:c.A562T:p.T188S;RNF138:NM_001191324:exon6:c.A562T:p.T188S;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.A562T:p.T188S;ENSG00000134758:ENST00000257190:exon4:c.A280T:p.T94S;	0.487894968339907	0.568
18	29706657	C	A	18	32126694	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.C281A:p.T94K;RNF138:NM_016271:exon7:c.C563A:p.T188K;RNF138:NM_001191324:exon6:c.C563A:p.T188K;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.C563A:p.T188K;ENSG00000134758:ENST00000257190:exon4:c.C281A:p.T94K;	0.943551498344348	0.714
18	29706657	C	G	18	32126694	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.C281G:p.T94R;RNF138:NM_016271:exon7:c.C563G:p.T188R;RNF138:NM_001191324:exon6:c.C563G:p.T188R;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.C563G:p.T188R;ENSG00000134758:ENST00000257190:exon4:c.C281G:p.T94R;	0.924206883964434	0.738
18	29706657	C	T	18	32126694	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.C281T:p.T94I;RNF138:NM_016271:exon7:c.C563T:p.T188I;RNF138:NM_001191324:exon6:c.C563T:p.T188I;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.C563T:p.T188I;ENSG00000134758:ENST00000257190:exon4:c.C281T:p.T94I;	0.00334586673479274	0.042
18	29706761	G	A	18	32126798	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.G385A:p.V129M;RNF138:NM_016271:exon7:c.G667A:p.V223M;RNF138:NM_001191324:exon6:c.G667A:p.V223M;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.G667A:p.V223M;ENSG00000134758:ENST00000257190:exon4:c.G385A:p.V129M;	0.0733383108257238	0.166
18	29706761	G	C	18	32126798	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.G385C:p.V129L;RNF138:NM_016271:exon7:c.G667C:p.V223L;RNF138:NM_001191324:exon6:c.G667C:p.V223L;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.G667C:p.V223L;ENSG00000134758:ENST00000257190:exon4:c.G385C:p.V129L;	0.632732108020226	0.564
18	29706761	G	T	18	32126798	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.G385T:p.V129L;RNF138:NM_016271:exon7:c.G667T:p.V223L;RNF138:NM_001191324:exon6:c.G667T:p.V223L;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.G667T:p.V223L;ENSG00000134758:ENST00000257190:exon4:c.G385T:p.V129L;	0.981635241063216	0.818
18	29706762	T	A	18	32126799	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.T386A:p.V129E;RNF138:NM_016271:exon7:c.T668A:p.V223E;RNF138:NM_001191324:exon6:c.T668A:p.V223E;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.T668A:p.V223E;ENSG00000134758:ENST00000257190:exon4:c.T386A:p.V129E;	0.476655520173987	0.63
18	29706762	T	C	18	32126799	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.T386C:p.V129A;RNF138:NM_016271:exon7:c.T668C:p.V223A;RNF138:NM_001191324:exon6:c.T668C:p.V223A;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.T668C:p.V223A;ENSG00000134758:ENST00000257190:exon4:c.T386C:p.V129A;	0.893534649616859	0.82
18	29706762	T	G	18	32126799	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon4:c.T386G:p.V129G;RNF138:NM_016271:exon7:c.T668G:p.V223G;RNF138:NM_001191324:exon6:c.T668G:p.V223G;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.T668G:p.V223G;ENSG00000134758:ENST00000257190:exon4:c.T386G:p.V129G;	0.894416991087096	0.834
18	29706763	G	A	18	32126800	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon4:c.G387A:p.V129V;RNF138:NM_016271:exon7:c.G669A:p.V223V;RNF138:NM_001191324:exon6:c.G669A:p.V223V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.G669A:p.V223V;ENSG00000134758:ENST00000257190:exon4:c.G387A:p.V129V;	0.9927774403215	0.914
18	29706763	G	C	18	32126800	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon4:c.G387C:p.V129V;RNF138:NM_016271:exon7:c.G669C:p.V223V;RNF138:NM_001191324:exon6:c.G669C:p.V223V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.G669C:p.V223V;ENSG00000134758:ENST00000257190:exon4:c.G387C:p.V129V;	0.997302776135282	0.872
18	29706763	G	T	18	32126800	y	y	exonic	RNF138	synonymous SNV	RNF138:NM_198128:exon4:c.G387T:p.V129V;RNF138:NM_016271:exon7:c.G669T:p.V223V;RNF138:NM_001191324:exon6:c.G669T:p.V223V;	exonic	ENSG00000134758	synonymous SNV	ENSG00000134758:ENST00000261593:exon7:c.G669T:p.V223V;ENSG00000134758:ENST00000257190:exon4:c.G387T:p.V129V;	0.988376934881012	0.872
18	29706764	G	A	18	32126801	y	y	splicing	RNF138(NM_016271:exon7:c.669+1G>A;NM_001191324:exon6:c.669+1G>A;NM_198128:exon4:c.387+1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.669+1G>A;ENST00000257190:exon4:c.387+1G>A;ENST00000577999:exon3:c.236+1G>A)	.	.	0.999986675681007	0.928
18	29706764	G	C	18	32126801	y	y	splicing	RNF138(NM_016271:exon7:c.669+1G>C;NM_001191324:exon6:c.669+1G>C;NM_198128:exon4:c.387+1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.669+1G>C;ENST00000257190:exon4:c.387+1G>C;ENST00000577999:exon3:c.236+1G>C)	.	.	0.999986675681007	0.928
18	29706764	G	T	18	32126801	y	y	splicing	RNF138(NM_016271:exon7:c.669+1G>T;NM_001191324:exon6:c.669+1G>T;NM_198128:exon4:c.387+1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.669+1G>T;ENST00000257190:exon4:c.387+1G>T;ENST00000577999:exon3:c.236+1G>T)	.	.	0.999986675681007	0.928
18	29706765	T	A	18	32126802	y	y	splicing	RNF138(NM_016271:exon7:c.669+2T>A;NM_001191324:exon6:c.669+2T>A;NM_198128:exon4:c.387+2T>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.669+2T>A;ENST00000257190:exon4:c.387+2T>A;ENST00000577999:exon3:c.236+2T>A)	.	.	0.999990155693597	0.926
18	29706765	T	C	18	32126802	y	y	splicing	RNF138(NM_016271:exon7:c.669+2T>C;NM_001191324:exon6:c.669+2T>C;NM_198128:exon4:c.387+2T>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.669+2T>C;ENST00000257190:exon4:c.387+2T>C;ENST00000577999:exon3:c.236+2T>C)	.	.	0.980894216593405	0.6
18	29706765	T	G	18	32126802	y	y	splicing	RNF138(NM_016271:exon7:c.669+2T>G;NM_001191324:exon6:c.669+2T>G;NM_198128:exon4:c.387+2T>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon7:c.669+2T>G;ENST00000257190:exon4:c.387+2T>G;ENST00000577999:exon3:c.236+2T>G)	.	.	0.999990155693597	0.926
18	29706766	A	C	18	32126803	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.998606557714066	0.932
18	29706766	A	G	18	32126803	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.194030493207992	0.398
18	29706766	A	T	18	32126803	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.997137887755218	0.918
18	29706767	A	C	18	32126804	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.913543360857194	0.642
18	29706767	A	G	18	32126804	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.993592807766042	0.808
18	29706767	A	T	18	32126804	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.980844361520005	0.73
18	29706768	G	A	18	32126805	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.998677589636038	0.946
18	29706768	G	C	18	32126805	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.99423235919059	0.932
18	29706768	G	T	18	32126805	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.998748734682492	0.926
18	29706769	T	A	18	32126806	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.772872850811092	0.528
18	29706769	T	C	18	32126806	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.670291932545428	0.554
18	29706769	T	G	18	32126806	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.517837903703577	0.388
18	29706770	G	A	18	32126807	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.515380028786E-4	0.014
18	29706770	G	C	18	32126807	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.55232293977891E-4	0.01
18	29706770	G	T	18	32126807	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	1.51591174045998E-4	0.002
18	29706771	A	C	18	32126808	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00276694886368775	0.026
18	29706771	A	G	18	32126808	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00302493494528204	0.02
18	29706771	A	T	18	32126808	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00523560588908477	0.028
18	29709070	T	A	18	32129107	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.025879911536716	0.358
18	29709070	T	C	18	32129107	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00172515700486965	0.132
18	29709070	T	G	18	32129107	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.0140643573249308	0.352
18	29709071	A	C	18	32129108	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	1.67944982512943E-5	0.004
18	29709071	A	G	18	32129108	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	9.63065284904611E-6	0.0
18	29709071	A	T	18	32129108	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.36475164215061E-5	0.034
18	29709072	T	A	18	32129109	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00184169012715148	0.138
18	29709072	T	C	18	32129109	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.71403583418515E-4	0.022
18	29709072	T	G	18	32129109	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.975388902130925	0.408
18	29709073	T	A	18	32129110	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.999963335815459	0.96
18	29709073	T	C	18	32129110	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00218032409666095	0.13
18	29709073	T	G	18	32129110	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.151091878920133	0.448
18	29709074	G	A	18	32129111	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	1.14667539912284E-4	0.024
18	29709074	G	C	18	32129111	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.8247006349541E-5	0.096
18	29709074	G	T	18	32129111	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.8247006349541E-5	0.156
18	29709075	T	A	18	32129112	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.0134014832444746	0.222
18	29709075	T	C	18	32129112	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	4.94616561667136E-5	0.084
18	29709075	T	G	18	32129112	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.0392076146174078	0.238
18	29709076	T	A	18	32129113	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.501236130998159	0.41
18	29709076	T	C	18	32129113	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	3.60297532477026E-4	0.06
18	29709076	T	G	18	32129113	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.299892896589943	0.396
18	29709077	T	A	18	32129114	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.853538365883084	0.554
18	29709077	T	C	18	32129114	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.00232981772102396	0.17
18	29709077	T	G	18	32129114	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.91335213103384	0.568
18	29709078	T	A	18	32129115	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	7.20212618920109E-5	0.032
18	29709078	T	C	18	32129115	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	5.08683644814754E-5	0.002
18	29709078	T	G	18	32129115	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.12100459003602E-4	0.146
18	29709079	T	A	18	32129116	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.0298404400075431	0.346
18	29709079	T	C	18	32129116	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	2.96207824000941E-5	0.094
18	29709079	T	G	18	32129116	y	y	intronic	RNF138	.	.	intronic	ENSG00000134758;ENSG00000141441	.	.	0.986963855536331	0.7
18	29709080	A	C	18	32129117	y	y	splicing	RNF138(NM_016271:exon8:c.670-2A>C;NM_001191324:exon7:c.670-2A>C;NM_198128:exon5:c.388-2A>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon8:c.670-2A>C;ENST00000257190:exon5:c.388-2A>C;ENST00000577999:exon4:c.237-2A>C)	.	.	0.99994568797423	0.938
18	29709080	A	G	18	32129117	y	y	splicing	RNF138(NM_016271:exon8:c.670-2A>G;NM_001191324:exon7:c.670-2A>G;NM_198128:exon5:c.388-2A>G)	.	.	splicing	ENSG00000134758(ENST00000261593:exon8:c.670-2A>G;ENST00000257190:exon5:c.388-2A>G;ENST00000577999:exon4:c.237-2A>G)	.	.	0.99994568797423	0.938
18	29709080	A	T	18	32129117	y	y	splicing	RNF138(NM_016271:exon8:c.670-2A>T;NM_001191324:exon7:c.670-2A>T;NM_198128:exon5:c.388-2A>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon8:c.670-2A>T;ENST00000257190:exon5:c.388-2A>T;ENST00000577999:exon4:c.237-2A>T)	.	.	0.99994568797423	0.934
18	29709081	G	A	18	32129118	y	y	splicing	RNF138(NM_016271:exon8:c.670-1G>A;NM_001191324:exon7:c.670-1G>A;NM_198128:exon5:c.388-1G>A)	.	.	splicing	ENSG00000134758(ENST00000261593:exon8:c.670-1G>A;ENST00000257190:exon5:c.388-1G>A;ENST00000577999:exon4:c.237-1G>A)	.	.	0.999985532734767	0.944
18	29709081	G	C	18	32129118	y	y	splicing	RNF138(NM_016271:exon8:c.670-1G>C;NM_001191324:exon7:c.670-1G>C;NM_198128:exon5:c.388-1G>C)	.	.	splicing	ENSG00000134758(ENST00000261593:exon8:c.670-1G>C;ENST00000257190:exon5:c.388-1G>C;ENST00000577999:exon4:c.237-1G>C)	.	.	0.999985532734767	0.944
18	29709081	G	T	18	32129118	y	y	splicing	RNF138(NM_016271:exon8:c.670-1G>T;NM_001191324:exon7:c.670-1G>T;NM_198128:exon5:c.388-1G>T)	.	.	splicing	ENSG00000134758(ENST00000261593:exon8:c.670-1G>T;ENST00000257190:exon5:c.388-1G>T;ENST00000577999:exon4:c.237-1G>T)	.	.	0.999985532734767	0.944
18	29709082	A	C	18	32129119	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon5:c.A388C:p.N130H;RNF138:NM_016271:exon8:c.A670C:p.N224H;RNF138:NM_001191324:exon7:c.A670C:p.N224H;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon8:c.A670C:p.N224H;ENSG00000134758:ENST00000257190:exon5:c.A388C:p.N130H;	0.0901203404915231	0.202
18	29709082	A	G	18	32129119	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon5:c.A388G:p.N130D;RNF138:NM_016271:exon8:c.A670G:p.N224D;RNF138:NM_001191324:exon7:c.A670G:p.N224D;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon8:c.A670G:p.N224D;ENSG00000134758:ENST00000257190:exon5:c.A388G:p.N130D;	1.40304239743283E-4	0.014
18	29709082	A	T	18	32129119	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon5:c.A388T:p.N130Y;RNF138:NM_016271:exon8:c.A670T:p.N224Y;RNF138:NM_001191324:exon7:c.A670T:p.N224Y;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon8:c.A670T:p.N224Y;ENSG00000134758:ENST00000257190:exon5:c.A388T:p.N130Y;	0.155318107555921	0.244
18	29709083	A	C	18	32129120	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon5:c.A389C:p.N130T;RNF138:NM_016271:exon8:c.A671C:p.N224T;RNF138:NM_001191324:exon7:c.A671C:p.N224T;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon8:c.A671C:p.N224T;ENSG00000134758:ENST00000257190:exon5:c.A389C:p.N130T;	0.847316310392459	0.788
18	29709083	A	G	18	32129120	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon5:c.A389G:p.N130S;RNF138:NM_016271:exon8:c.A671G:p.N224S;RNF138:NM_001191324:exon7:c.A671G:p.N224S;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon8:c.A671G:p.N224S;ENSG00000134758:ENST00000257190:exon5:c.A389G:p.N130S;	0.772431608419625	0.67
18	29709083	A	T	18	32129120	y	y	exonic	RNF138	nonsynonymous SNV	RNF138:NM_198128:exon5:c.A389T:p.N130I;RNF138:NM_016271:exon8:c.A671T:p.N224I;RNF138:NM_001191324:exon7:c.A671T:p.N224I;	exonic	ENSG00000134758	nonsynonymous SNV	ENSG00000134758:ENST00000261593:exon8:c.A671T:p.N224I;ENSG00000134758:ENST00000257190:exon5:c.A389T:p.N130I;	0.782500907188738	0.63
18	29770094	T	A	18	32190131	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon1:c.T61A:p.L21M;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon1:c.T61A:p.L21M;ENSG00000141434:ENST00000269202:exon1:c.T61A:p.L21M;	3.58336380141938E-5	0.008
18	29770094	T	C	18	32190131	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon1:c.T61C:p.L21L;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon1:c.T61C:p.L21L;ENSG00000141434:ENST00000269202:exon1:c.T61C:p.L21L;	9.79012146444252E-5	0.008
18	29770094	T	G	18	32190131	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon1:c.T61G:p.L21V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon1:c.T61G:p.L21V;ENSG00000141434:ENST00000269202:exon1:c.T61G:p.L21V;	1.69508252892506E-4	0.044
18	29770095	T	A	18	32190132	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon1:c.T62A:p.L21X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000581447:exon1:c.T62A:p.L21X;ENSG00000141434:ENST00000269202:exon1:c.T62A:p.L21X;	0.729430172926811	0.664
18	29770095	T	C	18	32190132	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon1:c.T62C:p.L21S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon1:c.T62C:p.L21S;ENSG00000141434:ENST00000269202:exon1:c.T62C:p.L21S;	0.0704277026108149	0.19
18	29770095	T	G	18	32190132	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon1:c.T62G:p.L21W;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon1:c.T62G:p.L21W;ENSG00000141434:ENST00000269202:exon1:c.T62G:p.L21W;	0.70315013923866	0.584
18	29770096	G	A	18	32190133	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon1:c.G63A:p.L21L;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon1:c.G63A:p.L21L;ENSG00000141434:ENST00000269202:exon1:c.G63A:p.L21L;	0.999921092477545	0.992
18	29770096	G	C	18	32190133	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon1:c.G63C:p.L21F;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon1:c.G63C:p.L21F;ENSG00000141434:ENST00000269202:exon1:c.G63C:p.L21F;	0.999995590303061	0.984
18	29770096	G	T	18	32190133	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon1:c.G63T:p.L21F;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon1:c.G63T:p.L21F;ENSG00000141434:ENST00000269202:exon1:c.G63T:p.L21F;	0.999485292515922	0.99
18	29770097	G	A	18	32190134	y	y	splicing	MEP1B(NM_005925:exon1:c.63+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon1:c.63+1G>A;ENST00000581447:exon1:c.63+1G>A)	.	.	0.999938422912956	0.93
18	29770097	G	C	18	32190134	y	y	splicing	MEP1B(NM_005925:exon1:c.63+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon1:c.63+1G>C;ENST00000581447:exon1:c.63+1G>C)	.	.	0.999938422912956	0.944
18	29770097	G	T	18	32190134	y	y	splicing	MEP1B(NM_005925:exon1:c.63+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon1:c.63+1G>T;ENST00000581447:exon1:c.63+1G>T)	.	.	0.999938422912956	0.944
18	29770098	T	A	18	32190135	y	y	splicing	MEP1B(NM_005925:exon1:c.63+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon1:c.63+2T>A;ENST00000581447:exon1:c.63+2T>A)	.	.	0.999966203349492	0.94
18	29770098	T	C	18	32190135	y	y	splicing	MEP1B(NM_005925:exon1:c.63+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon1:c.63+2T>C;ENST00000581447:exon1:c.63+2T>C)	.	.	0.999811119541898	0.916
18	29770098	T	G	18	32190135	y	y	splicing	MEP1B(NM_005925:exon1:c.63+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon1:c.63+2T>G;ENST00000581447:exon1:c.63+2T>G)	.	.	0.999966203349492	0.944
18	29770099	A	C	18	32190136	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999680898046263	0.856
18	29770099	A	G	18	32190136	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.904568401062725	0.49
18	29770099	A	T	18	32190136	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99964644853422	0.85
18	29770100	A	C	18	32190137	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.919838799930463	0.742
18	29770100	A	G	18	32190137	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.983806715185109	0.744
18	29770100	A	T	18	32190137	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.987721512355778	0.814
18	29770101	G	A	18	32190138	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999514441864318	0.934
18	29770101	G	C	18	32190138	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999882737166824	0.9
18	29770101	G	T	18	32190138	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999897639296095	0.874
18	29770102	G	A	18	32190139	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.0289079152332E-5	0.0
18	29770102	G	C	18	32190139	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.0289079152332E-5	0.0
18	29770102	G	T	18	32190139	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.94357087175613E-5	0.0
18	29770103	A	C	18	32190140	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0015607142655483	0.024
18	29770103	A	G	18	32190140	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00154592920084238	0.034
18	29770103	A	T	18	32190140	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00163439074261251	0.024
18	29770104	A	C	18	32190141	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.53653000248071E-5	0.018
18	29770104	A	G	18	32190141	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.53653000248071E-5	0.018
18	29770104	A	T	18	32190141	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.05168426999554E-5	0.022
18	29771773	T	A	18	32191810	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999367417921576	0.938
18	29771773	T	C	18	32191810	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.530370740076823	0.538
18	29771773	T	G	18	32191810	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998667486318965	0.948
18	29771774	T	A	18	32191811	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99966042352336	0.952
18	29771774	T	C	18	32191811	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.995430900809815	0.714
18	29771774	T	G	18	32191811	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.997990274852896	0.874
18	29771775	T	A	18	32191812	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999544271750186	0.958
18	29771775	T	C	18	32191812	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.480725244327286	0.526
18	29771775	T	G	18	32191812	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999378701235716	0.944
18	29771776	A	C	18	32191813	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.24198702289976E-5	0.068
18	29771776	A	G	18	32191813	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.67573447044222E-5	0.066
18	29771776	A	T	18	32191813	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.79117014698222E-5	0.056
18	29771777	T	A	18	32191814	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0337388482460588	0.202
18	29771777	T	C	18	32191814	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.46712266054111E-4	0.008
18	29771777	T	G	18	32191814	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999603004917075	0.978
18	29771778	T	A	18	32191815	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.724436555949938	0.43
18	29771778	T	C	18	32191815	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.5158516908271E-4	0.024
18	29771778	T	G	18	32191815	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.2985588818113	0.338
18	29771779	T	A	18	32191816	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0275569561771069	0.264
18	29771779	T	C	18	32191816	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.97129373014826E-4	0.006
18	29771779	T	G	18	32191816	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0756598461857393	0.304
18	29771780	C	A	18	32191817	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00142114367672756	0.076
18	29771780	C	G	18	32191817	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00489425891303417	0.12
18	29771780	C	T	18	32191817	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.99809525305136E-5	0.0
18	29771781	C	A	18	32191818	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.30842387846909E-5	0.0
18	29771781	C	G	18	32191818	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.87984761610653E-5	0.0
18	29771781	C	T	18	32191818	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.18789839827297E-5	0.0
18	29771782	C	A	18	32191819	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.269041871953185	0.518
18	29771782	C	G	18	32191819	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999190741396659	0.93
18	29771782	C	T	18	32191819	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00122090239384374	0.102
18	29771783	A	C	18	32191820	y	y	splicing	MEP1B(NM_005925:exon2:c.64-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.64-2A>C;ENST00000581447:exon2:c.64-2A>C)	.	.	0.99994568797423	0.92
18	29771783	A	G	18	32191820	y	y	splicing	MEP1B(NM_005925:exon2:c.64-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.64-2A>G;ENST00000581447:exon2:c.64-2A>G)	.	.	0.99994568797423	0.92
18	29771783	A	T	18	32191820	y	y	splicing	MEP1B(NM_005925:exon2:c.64-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.64-2A>T;ENST00000581447:exon2:c.64-2A>T)	.	.	0.999970661931818	0.926
18	29771784	G	A	18	32191821	y	y	splicing	MEP1B(NM_005925:exon2:c.64-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.64-1G>A;ENST00000581447:exon2:c.64-1G>A)	.	.	0.99995545544995	0.932
18	29771784	G	C	18	32191821	y	y	splicing	MEP1B(NM_005925:exon2:c.64-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.64-1G>C;ENST00000581447:exon2:c.64-1G>C)	.	.	0.99995545544995	0.934
18	29771784	G	T	18	32191821	y	y	splicing	MEP1B(NM_005925:exon2:c.64-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.64-1G>T;ENST00000581447:exon2:c.64-1G>T)	.	.	0.99995545544995	0.934
18	29771785	G	A	18	32191822	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.G64A:p.A22T;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.G64A:p.A22T;ENSG00000141434:ENST00000269202:exon2:c.G64A:p.A22T;	0.00662492275089413	0.196
18	29771785	G	C	18	32191822	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.G64C:p.A22P;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.G64C:p.A22P;ENSG00000141434:ENST00000269202:exon2:c.G64C:p.A22P;	0.00137529730108036	0.152
18	29771785	G	T	18	32191822	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.G64T:p.A22S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.G64T:p.A22S;ENSG00000141434:ENST00000269202:exon2:c.G64T:p.A22S;	0.0409008735485578	0.34
18	29771786	C	A	18	32191823	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.C65A:p.A22E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.C65A:p.A22E;ENSG00000141434:ENST00000269202:exon2:c.C65A:p.A22E;	3.87184741161972E-4	0.014
18	29771786	C	G	18	32191823	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.C65G:p.A22G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.C65G:p.A22G;ENSG00000141434:ENST00000269202:exon2:c.C65G:p.A22G;	6.72590990906158E-4	0.024
18	29771786	C	T	18	32191823	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.C65T:p.A22V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.C65T:p.A22V;ENSG00000141434:ENST00000269202:exon2:c.C65T:p.A22V;	3.09230213131205E-4	0.016
18	29771801	T	A	18	32191838	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.T80A:p.F27Y;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.T80A:p.F27Y;ENSG00000141434:ENST00000269202:exon2:c.T80A:p.F27Y;	4.87644495309593E-4	0.018
18	29771801	T	C	18	32191838	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.T80C:p.F27S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.T80C:p.F27S;ENSG00000141434:ENST00000269202:exon2:c.T80C:p.F27S;	0.00624242599486302	0.064
18	29771801	T	G	18	32191838	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.T80G:p.F27C;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.T80G:p.F27C;ENSG00000141434:ENST00000269202:exon2:c.T80G:p.F27C;	0.714230830744936	0.604
18	29771802	T	A	18	32191839	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.T81A:p.F27L;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.T81A:p.F27L;ENSG00000141434:ENST00000269202:exon2:c.T81A:p.F27L;	5.10993356875875E-5	0.088
18	29771802	T	C	18	32191839	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon2:c.T81C:p.F27F;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.T81C:p.F27F;ENSG00000141434:ENST00000269202:exon2:c.T81C:p.F27F;	1.42414260159348E-4	0.024
18	29771802	T	G	18	32191839	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.T81G:p.F27L;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.T81G:p.F27L;ENSG00000141434:ENST00000269202:exon2:c.T81G:p.F27L;	2.25184697654413E-4	0.04
18	29771803	G	A	18	32191840	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.G82A:p.D28N;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.G82A:p.D28N;ENSG00000141434:ENST00000269202:exon2:c.G82A:p.D28N;	0.999990449383645	0.99
18	29771803	G	C	18	32191840	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.G82C:p.D28H;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.G82C:p.D28H;ENSG00000141434:ENST00000269202:exon2:c.G82C:p.D28H;	0.999979378780702	0.988
18	29771803	G	T	18	32191840	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon2:c.G82T:p.D28Y;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon2:c.G82T:p.D28Y;ENSG00000141434:ENST00000269202:exon2:c.G82T:p.D28Y;	0.999996097030117	0.99
18	29771804	G	A	18	32191841	y	y	splicing	MEP1B(NM_005925:exon2:c.82+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.82+1G>A;ENST00000581447:exon2:c.82+1G>A)	.	.	0.999990361384395	0.938
18	29771804	G	C	18	32191841	y	y	splicing	MEP1B(NM_005925:exon2:c.82+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.82+1G>C;ENST00000581447:exon2:c.82+1G>C)	.	.	0.999990361384395	0.938
18	29771804	G	T	18	32191841	y	y	splicing	MEP1B(NM_005925:exon2:c.82+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.82+1G>T;ENST00000581447:exon2:c.82+1G>T)	.	.	0.999990361384395	0.938
18	29771805	T	A	18	32191842	y	y	splicing	MEP1B(NM_005925:exon2:c.82+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.82+2T>A;ENST00000581447:exon2:c.82+2T>A)	.	.	0.999988247793601	0.93
18	29771805	T	C	18	32191842	y	y	splicing	MEP1B(NM_005925:exon2:c.82+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.82+2T>C;ENST00000581447:exon2:c.82+2T>C)	.	.	0.999945827492243	0.858
18	29771805	T	G	18	32191842	y	y	splicing	MEP1B(NM_005925:exon2:c.82+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon2:c.82+2T>G;ENST00000581447:exon2:c.82+2T>G)	.	.	0.999988247793601	0.928
18	29771806	G	A	18	32191843	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0113880752787555	0.16
18	29771806	G	C	18	32191843	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.994772347688479	0.906
18	29771806	G	T	18	32191843	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.973144628933667	0.83
18	29771807	A	C	18	32191844	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.996556228449467	0.91
18	29771807	A	G	18	32191844	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.997172029457876	0.958
18	29771807	A	T	18	32191844	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999861266112003	0.94
18	29771808	G	A	18	32191845	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999967542013088	0.988
18	29771808	G	C	18	32191845	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999952599053126	0.982
18	29771808	G	T	18	32191845	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999979875155902	0.964
18	29771809	T	A	18	32191846	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998457673230369	0.85
18	29771809	T	C	18	32191846	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.992358742743916	0.732
18	29771809	T	G	18	32191846	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.996877501277511	0.862
18	29771810	C	A	18	32191847	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.72927097532312E-5	0.004
18	29771810	C	G	18	32191847	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.76499164215335E-5	0.078
18	29771810	C	T	18	32191847	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.42027683392709E-5	0.0
18	29771811	T	A	18	32191848	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.77282158008052E-4	0.012
18	29771811	T	C	18	32191848	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.70373002829532E-4	0.002
18	29771811	T	G	18	32191848	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.33097154244748E-4	0.004
18	29772597	T	A	18	32192634	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.879680481381121	0.666
18	29772597	T	C	18	32192634	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00547090729033287	0.114
18	29772597	T	G	18	32192634	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.803636133587768	0.67
18	29772598	T	A	18	32192635	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.694134766033399	0.63
18	29772598	T	C	18	32192635	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00412460072394845	0.188
18	29772598	T	G	18	32192635	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.365886760415027	0.594
18	29772599	T	A	18	32192636	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.912778053053333	0.63
18	29772599	T	C	18	32192636	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.99447699200465E-4	0.108
18	29772599	T	G	18	32192636	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.979519150598471	0.67
18	29772600	T	A	18	32192637	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0134397884636004	0.352
18	29772600	T	C	18	32192637	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.59243001520606E-4	0.086
18	29772600	T	G	18	32192637	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00876256587047621	0.374
18	29772601	A	C	18	32192638	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.44567246961622E-5	0.002
18	29772601	A	G	18	32192638	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.44876233256251E-5	0.0
18	29772601	A	T	18	32192638	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.67944982512943E-5	0.0
18	29772602	A	C	18	32192639	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.44567246961622E-5	0.004
18	29772602	A	G	18	32192639	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.711767936183877	0.716
18	29772602	A	T	18	32192639	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.44567246961622E-5	0.002
18	29772603	T	A	18	32192640	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.947494621777797	0.628
18	29772603	T	C	18	32192640	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.45715734546471E-4	0.038
18	29772603	T	G	18	32192640	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99990105941366	0.96
18	29772604	C	A	18	32192641	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.73876001323907E-4	0.096
18	29772604	C	G	18	32192641	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.5739209201749E-4	0.13
18	29772604	C	T	18	32192641	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.32131208354143E-5	0.004
18	29772605	A	C	18	32192642	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.74269371110134E-4	0.024
18	29772605	A	G	18	32192642	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00197155353713457	0.054
18	29772605	A	T	18	32192642	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00232030406675464	0.042
18	29772606	A	C	18	32192643	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.89901391783687E-5	0.01
18	29772606	A	G	18	32192643	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0126313223161569	0.268
18	29772606	A	T	18	32192643	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.44567246961622E-5	0.0
18	29772607	A	C	18	32192644	y	y	splicing	MEP1B(NM_005925:exon3:c.83-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon3:c.83-2A>C;ENST00000581447:exon3:c.83-2A>C)	.	.	0.999985053630192	0.784
18	29772607	A	G	18	32192644	y	y	splicing	MEP1B(NM_005925:exon3:c.83-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon3:c.83-2A>G;ENST00000581447:exon3:c.83-2A>G)	.	.	0.999985053630192	0.784
18	29772607	A	T	18	32192644	y	y	splicing	MEP1B(NM_005925:exon3:c.83-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon3:c.83-2A>T;ENST00000581447:exon3:c.83-2A>T)	.	.	0.999984214888458	0.784
18	29772608	G	A	18	32192645	y	y	splicing	MEP1B(NM_005925:exon3:c.83-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon3:c.83-1G>A;ENST00000581447:exon3:c.83-1G>A)	.	.	0.999957541140616	0.864
18	29772608	G	C	18	32192645	y	y	splicing	MEP1B(NM_005925:exon3:c.83-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon3:c.83-1G>C;ENST00000581447:exon3:c.83-1G>C)	.	.	0.999948844427023	0.866
18	29772608	G	T	18	32192645	y	y	splicing	MEP1B(NM_005925:exon3:c.83-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon3:c.83-1G>T;ENST00000581447:exon3:c.83-1G>T)	.	.	0.999957541140616	0.87
18	29772609	A	C	18	32192646	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.A83C:p.D28A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon3:c.A83C:p.D28A;ENSG00000141434:ENST00000269202:exon3:c.A83C:p.D28A;	0.00884214287880536	0.158
18	29772609	A	G	18	32192646	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.A83G:p.D28G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon3:c.A83G:p.D28G;ENSG00000141434:ENST00000269202:exon3:c.A83G:p.D28G;	0.00394272924198632	0.062
18	29772609	A	T	18	32192646	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.A83T:p.D28V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon3:c.A83T:p.D28V;ENSG00000141434:ENST00000269202:exon3:c.A83T:p.D28V;	0.0171383295669215	0.17
18	29772610	T	A	18	32192647	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.T84A:p.D28E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon3:c.T84A:p.D28E;ENSG00000141434:ENST00000269202:exon3:c.T84A:p.D28E;	0.00227727343926776	0.132
18	29772610	T	C	18	32192647	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon3:c.T84C:p.D28D;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon3:c.T84C:p.D28D;ENSG00000141434:ENST00000269202:exon3:c.T84C:p.D28D;	0.00259821393476622	0.112
18	29772610	T	G	18	32192647	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.T84G:p.D28E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon3:c.T84G:p.D28E;ENSG00000141434:ENST00000269202:exon3:c.T84G:p.D28E;	0.00216398847055347	0.11
18	29772651	A	C	18	32192688	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.A125C:p.E42A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.A29C:p.E10A;ENSG00000141434:ENST00000581447:exon3:c.A125C:p.E42A;ENSG00000141434:ENST00000269202:exon3:c.A125C:p.E42A;	0.00122809168252456	0.038
18	29772651	A	G	18	32192688	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.A125G:p.E42G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.A29G:p.E10G;ENSG00000141434:ENST00000581447:exon3:c.A125G:p.E42G;ENSG00000141434:ENST00000269202:exon3:c.A125G:p.E42G;	0.0561987585020297	0.228
18	29772651	A	T	18	32192688	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.A125T:p.E42V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.A29T:p.E10V;ENSG00000141434:ENST00000581447:exon3:c.A125T:p.E42V;ENSG00000141434:ENST00000269202:exon3:c.A125T:p.E42V;	0.928024870083118	0.566
18	29772652	A	C	18	32192689	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.A126C:p.E42D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.A30C:p.E10D;ENSG00000141434:ENST00000581447:exon3:c.A126C:p.E42D;ENSG00000141434:ENST00000269202:exon3:c.A126C:p.E42D;	0.984685891218141	0.734
18	29772652	A	G	18	32192689	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon3:c.A126G:p.E42E;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.A30G:p.E10E;ENSG00000141434:ENST00000581447:exon3:c.A126G:p.E42E;ENSG00000141434:ENST00000269202:exon3:c.A126G:p.E42E;	0.999460216857868	0.982
18	29772652	A	T	18	32192689	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.A126T:p.E42D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.A30T:p.E10D;ENSG00000141434:ENST00000581447:exon3:c.A126T:p.E42D;ENSG00000141434:ENST00000269202:exon3:c.A126T:p.E42D;	0.998226811256388	0.666
18	29772653	G	A	18	32192690	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.G127A:p.G43S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.G31A:p.G11S;ENSG00000141434:ENST00000581447:exon3:c.G127A:p.G43S;ENSG00000141434:ENST00000269202:exon3:c.G127A:p.G43S;	0.999982956291976	1.0
18	29772653	G	C	18	32192690	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.G127C:p.G43R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.G31C:p.G11R;ENSG00000141434:ENST00000581447:exon3:c.G127C:p.G43R;ENSG00000141434:ENST00000269202:exon3:c.G127C:p.G43R;	0.999997890243197	1.0
18	29772653	G	T	18	32192690	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon3:c.G127T:p.G43C;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon3:c.G31T:p.G11C;ENSG00000141434:ENST00000581447:exon3:c.G127T:p.G43C;ENSG00000141434:ENST00000269202:exon3:c.G127T:p.G43C;	0.999993655291701	1.0
18	29772654	G	A	18	32192691	y	y	splicing	MEP1B(NM_005925:exon3:c.127+1G>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon3:c.31+1G>A;ENST00000269202:exon3:c.127+1G>A;ENST00000581447:exon3:c.127+1G>A)	.	.	0.999990764389106	0.938
18	29772654	G	C	18	32192691	y	y	splicing	MEP1B(NM_005925:exon3:c.127+1G>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon3:c.31+1G>C;ENST00000269202:exon3:c.127+1G>C;ENST00000581447:exon3:c.127+1G>C)	.	.	0.999990764389106	0.938
18	29772654	G	T	18	32192691	y	y	splicing	MEP1B(NM_005925:exon3:c.127+1G>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon3:c.31+1G>T;ENST00000269202:exon3:c.127+1G>T;ENST00000581447:exon3:c.127+1G>T)	.	.	0.999990764389106	0.938
18	29772655	T	A	18	32192692	y	y	splicing	MEP1B(NM_005925:exon3:c.127+2T>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon3:c.31+2T>A;ENST00000269202:exon3:c.127+2T>A;ENST00000581447:exon3:c.127+2T>A)	.	.	0.999994907583848	0.936
18	29772655	T	C	18	32192692	y	y	splicing	MEP1B(NM_005925:exon3:c.127+2T>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon3:c.31+2T>C;ENST00000269202:exon3:c.127+2T>C;ENST00000581447:exon3:c.127+2T>C)	.	.	0.9917226018931	0.61
18	29772655	T	G	18	32192692	y	y	splicing	MEP1B(NM_005925:exon3:c.127+2T>G)	.	.	splicing	ENSG00000141434(ENST00000581184:exon3:c.31+2T>G;ENST00000269202:exon3:c.127+2T>G;ENST00000581447:exon3:c.127+2T>G)	.	.	0.999994907583848	0.936
18	29772656	T	A	18	32192693	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0071609303442897	0.082
18	29772656	T	C	18	32192693	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0279820357116756	0.188
18	29772656	T	G	18	32192693	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00272068613126137	0.098
18	29772657	T	A	18	32192694	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.11045987809628E-4	0.066
18	29772657	T	C	18	32192694	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0187082634928852	0.194
18	29772657	T	G	18	32192694	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00606917921409372	0.038
18	29772658	G	A	18	32192695	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999845614979646	0.994
18	29772658	G	C	18	32192695	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999988485556768	1.0
18	29772658	G	T	18	32192695	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999319132139453	0.92
18	29772659	T	A	18	32192696	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.727229859844138	0.52
18	29772659	T	C	18	32192696	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.659243275856519	0.556
18	29772659	T	G	18	32192696	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.623995678926172	0.576
18	29772660	G	A	18	32192697	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.73571184228945E-4	0.0
18	29772660	G	C	18	32192697	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.93589082758805E-5	0.0
18	29772660	G	T	18	32192697	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.35043614911499E-4	0.0
18	29772661	G	A	18	32192698	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.33748991820933E-4	0.004
18	29772661	G	C	18	32192698	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.59725687857133E-5	0.0
18	29772661	G	T	18	32192698	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.59725687857133E-5	0.0
18	29772725	C	A	18	32192762	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.34480864025476E-4	0.03
18	29772725	C	G	18	32192762	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.12855506289511E-4	0.03
18	29772725	C	T	18	32192762	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.84046122800355E-5	0.002
18	29772726	T	A	18	32192763	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.971463900464558	0.694
18	29772726	T	C	18	32192763	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0368707953708261	0.216
18	29772726	T	G	18	32192763	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.983370463385221	0.708
18	29772727	T	A	18	32192764	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.136257358909018	0.286
18	29772727	T	C	18	32192764	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.07703665303167E-4	0.036
18	29772727	T	G	18	32192764	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0423816722791873	0.248
18	29772728	T	A	18	32192765	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00450255675306405	0.166
18	29772728	T	C	18	32192765	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.36760977265159E-5	0.006
18	29772728	T	G	18	32192765	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00264437980794917	0.188
18	29772729	A	C	18	32192766	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.57510895120185E-5	0.0
18	29772729	A	G	18	32192766	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.48982468397583E-5	0.0
18	29772729	A	T	18	32192766	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.07013456364837E-5	0.0
18	29772730	C	A	18	32192767	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.43972271800775E-4	0.06
18	29772730	C	G	18	32192767	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999391099070644	0.974
18	29772730	C	T	18	32192767	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.39842320107613E-5	0.0
18	29772731	T	A	18	32192768	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00561868452984386	0.212
18	29772731	T	C	18	32192768	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.29297512511419E-5	0.01
18	29772731	T	G	18	32192768	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0325750094787672	0.292
18	29772732	C	A	18	32192769	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.59462162998253E-4	0.028
18	29772732	C	G	18	32192769	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0014698827590172	0.078
18	29772732	C	T	18	32192769	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.69343094090822E-5	0.004
18	29772733	T	A	18	32192770	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.01289383600941E-4	0.004
18	29772733	T	C	18	32192770	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.15866948476304E-5	0.002
18	29772733	T	G	18	32192770	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.13313347940562E-5	0.002
18	29772734	T	A	18	32192771	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0177252834563181	0.098
18	29772734	T	C	18	32192771	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.19646844774314E-4	0.022
18	29772734	T	G	18	32192771	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.993107811526318	0.664
18	29772735	A	C	18	32192772	y	y	splicing	MEP1B(NM_005925:exon4:c.128-2A>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.32-2A>C;ENST00000269202:exon4:c.128-2A>C;ENST00000581447:exon4:c.128-2A>C)	.	.	0.999993519952936	0.924
18	29772735	A	G	18	32192772	y	y	splicing	MEP1B(NM_005925:exon4:c.128-2A>G)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.32-2A>G;ENST00000269202:exon4:c.128-2A>G;ENST00000581447:exon4:c.128-2A>G)	.	.	0.999993519952936	0.924
18	29772735	A	T	18	32192772	y	y	splicing	MEP1B(NM_005925:exon4:c.128-2A>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.32-2A>T;ENST00000269202:exon4:c.128-2A>T;ENST00000581447:exon4:c.128-2A>T)	.	.	0.999993519952936	0.912
18	29772736	G	A	18	32192773	y	y	splicing	MEP1B(NM_005925:exon4:c.128-1G>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.32-1G>A;ENST00000269202:exon4:c.128-1G>A;ENST00000581447:exon4:c.128-1G>A)	.	.	0.999988247793601	0.926
18	29772736	G	C	18	32192773	y	y	splicing	MEP1B(NM_005925:exon4:c.128-1G>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.32-1G>C;ENST00000269202:exon4:c.128-1G>C;ENST00000581447:exon4:c.128-1G>C)	.	.	0.999988247793601	0.928
18	29772736	G	T	18	32192773	y	y	splicing	MEP1B(NM_005925:exon4:c.128-1G>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.32-1G>T;ENST00000269202:exon4:c.128-1G>T;ENST00000581447:exon4:c.128-1G>T)	.	.	0.999988247793601	0.916
18	29772737	G	A	18	32192774	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.G128A:p.G43D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G32A:p.G11D;ENSG00000141434:ENST00000581447:exon4:c.G128A:p.G43D;ENSG00000141434:ENST00000269202:exon4:c.G128A:p.G43D;	2.4000194304019E-4	0.034
18	29772737	G	C	18	32192774	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.G128C:p.G43A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G32C:p.G11A;ENSG00000141434:ENST00000581447:exon4:c.G128C:p.G43A;ENSG00000141434:ENST00000269202:exon4:c.G128C:p.G43A;	0.00960336195116478	0.182
18	29772737	G	T	18	32192774	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.G128T:p.G43V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G32T:p.G11V;ENSG00000141434:ENST00000581447:exon4:c.G128T:p.G43V;ENSG00000141434:ENST00000269202:exon4:c.G128T:p.G43V;	0.169834621714804	0.422
18	29772738	T	A	18	32192775	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon4:c.T129A:p.G43G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.T33A:p.G11G;ENSG00000141434:ENST00000581447:exon4:c.T129A:p.G43G;ENSG00000141434:ENST00000269202:exon4:c.T129A:p.G43G;	0.00294489578579279	0.016
18	29772738	T	C	18	32192775	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon4:c.T129C:p.G43G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.T33C:p.G11G;ENSG00000141434:ENST00000581447:exon4:c.T129C:p.G43G;ENSG00000141434:ENST00000269202:exon4:c.T129C:p.G43G;	0.00262365878736784	0.044
18	29772738	T	G	18	32192775	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon4:c.T129G:p.G43G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.T33G:p.G11G;ENSG00000141434:ENST00000581447:exon4:c.T129G:p.G43G;ENSG00000141434:ENST00000269202:exon4:c.T129G:p.G43G;	0.0025407753867414	0.012
18	29772778	A	C	18	32192815	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon4:c.A169C:p.R57R;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.A73C:p.R25R;ENSG00000141434:ENST00000581447:exon4:c.A169C:p.R57R;ENSG00000141434:ENST00000269202:exon4:c.A169C:p.R57R;	7.3924014330148E-5	0.012
18	29772778	A	G	18	32192815	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.A169G:p.R57G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.A73G:p.R25G;ENSG00000141434:ENST00000581447:exon4:c.A169G:p.R57G;ENSG00000141434:ENST00000269202:exon4:c.A169G:p.R57G;	4.11768403373971E-5	0.028
18	29772778	A	T	18	32192815	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.A169T:p.R57W;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.A73T:p.R25W;ENSG00000141434:ENST00000581447:exon4:c.A169T:p.R57W;ENSG00000141434:ENST00000269202:exon4:c.A169T:p.R57W;	0.00114533884805679	0.164
18	29772779	G	A	18	32192816	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.G170A:p.R57K;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G74A:p.R25K;ENSG00000141434:ENST00000581447:exon4:c.G170A:p.R57K;ENSG00000141434:ENST00000269202:exon4:c.G170A:p.R57K;	3.8709296834204E-5	0.068
18	29772779	G	C	18	32192816	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.G170C:p.R57T;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G74C:p.R25T;ENSG00000141434:ENST00000581447:exon4:c.G170C:p.R57T;ENSG00000141434:ENST00000269202:exon4:c.G170C:p.R57T;	4.02322563270151E-5	0.0
18	29772779	G	T	18	32192816	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.G170T:p.R57M;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G74T:p.R25M;ENSG00000141434:ENST00000581447:exon4:c.G170T:p.R57M;ENSG00000141434:ENST00000269202:exon4:c.G170T:p.R57M;	1.30022930788389E-4	0.008
18	29772780	G	A	18	32192817	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon4:c.G171A:p.R57R;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G75A:p.R25R;ENSG00000141434:ENST00000581447:exon4:c.G171A:p.R57R;ENSG00000141434:ENST00000269202:exon4:c.G171A:p.R57R;	0.844246107834595	0.456
18	29772780	G	C	18	32192817	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.G171C:p.R57S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G75C:p.R25S;ENSG00000141434:ENST00000581447:exon4:c.G171C:p.R57S;ENSG00000141434:ENST00000269202:exon4:c.G171C:p.R57S;	0.934726015018474	0.63
18	29772780	G	T	18	32192817	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon4:c.G171T:p.R57S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon4:c.G75T:p.R25S;ENSG00000141434:ENST00000581447:exon4:c.G171T:p.R57S;ENSG00000141434:ENST00000269202:exon4:c.G171T:p.R57S;	0.926609720948525	0.66
18	29772781	G	A	18	32192818	y	y	splicing	MEP1B(NM_005925:exon4:c.171+1G>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.75+1G>A;ENST00000269202:exon4:c.171+1G>A;ENST00000581447:exon4:c.171+1G>A)	.	.	0.99994568797423	0.932
18	29772781	G	C	18	32192818	y	y	splicing	MEP1B(NM_005925:exon4:c.171+1G>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.75+1G>C;ENST00000269202:exon4:c.171+1G>C;ENST00000581447:exon4:c.171+1G>C)	.	.	0.99994568797423	0.934
18	29772781	G	T	18	32192818	y	y	splicing	MEP1B(NM_005925:exon4:c.171+1G>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.75+1G>T;ENST00000269202:exon4:c.171+1G>T;ENST00000581447:exon4:c.171+1G>T)	.	.	0.99994568797423	0.928
18	29772782	T	A	18	32192819	y	y	splicing	MEP1B(NM_005925:exon4:c.171+2T>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.75+2T>A;ENST00000269202:exon4:c.171+2T>A;ENST00000581447:exon4:c.171+2T>A)	.	.	0.999978278263889	0.924
18	29772782	T	C	18	32192819	y	y	splicing	MEP1B(NM_005925:exon4:c.171+2T>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.75+2T>C;ENST00000269202:exon4:c.171+2T>C;ENST00000581447:exon4:c.171+2T>C)	.	.	0.999826113717039	0.86
18	29772782	T	G	18	32192819	y	y	splicing	MEP1B(NM_005925:exon4:c.171+2T>G)	.	.	splicing	ENSG00000141434(ENST00000581184:exon4:c.75+2T>G;ENST00000269202:exon4:c.171+2T>G;ENST00000581447:exon4:c.171+2T>G)	.	.	0.999978278263889	0.928
18	29772783	G	A	18	32192820	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.68535484704964E-4	0.004
18	29772783	G	C	18	32192820	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.79175924894748	0.608
18	29772783	G	T	18	32192820	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.904889807513938	0.574
18	29772784	A	C	18	32192821	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.908561268509905	0.696
18	29772784	A	G	18	32192821	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.992168620613327	0.658
18	29772784	A	T	18	32192821	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.993339249668065	0.676
18	29772785	G	A	18	32192822	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999943891743421	0.938
18	29772785	G	C	18	32192822	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999974920400294	0.876
18	29772785	G	T	18	32192822	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999937118756754	0.908
18	29772786	T	A	18	32192823	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.987017542406409	0.736
18	29772786	T	C	18	32192823	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.758164579070217	0.462
18	29772786	T	G	18	32192823	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.86501367201538	0.564
18	29772787	T	A	18	32192824	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00715988707962624	0.066
18	29772787	T	C	18	32192824	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00715988707962624	0.03
18	29772787	T	G	18	32192824	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00571541398422669	0.03
18	29772788	G	A	18	32192825	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00108970105084458	0.016
18	29772788	G	C	18	32192825	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00135211348844172	0.026
18	29772788	G	T	18	32192825	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00135211348844172	0.006
18	29775358	T	A	18	32195395	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.975690227191254	0.724
18	29775358	T	C	18	32195395	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.7908200551956E-4	0.036
18	29775358	T	G	18	32195395	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.698003248764761	0.584
18	29775359	A	C	18	32195396	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.24297444604043E-4	0.076
18	29775359	A	G	18	32195396	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.72742594183714E-4	0.064
18	29775359	A	T	18	32195396	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.03086783944482E-4	0.122
18	29775360	T	A	18	32195397	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.992215617109508	0.67
18	29775360	T	C	18	32195397	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.05441208139042E-4	0.072
18	29775360	T	G	18	32195397	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999974516791493	0.976
18	29775361	T	A	18	32195398	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.902640868499732	0.636
18	29775361	T	C	18	32195398	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00116393293852705	0.102
18	29775361	T	G	18	32195398	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.682560120697783	0.54
18	29775362	T	A	18	32195399	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.251194183888375	0.406
18	29775362	T	C	18	32195399	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.60227351434684E-4	0.012
18	29775362	T	G	18	32195399	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.238659870931457	0.468
18	29775363	T	A	18	32195400	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.914695255975971	0.542
18	29775363	T	C	18	32195400	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0014782885490017	0.026
18	29775363	T	G	18	32195400	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.845901462587473	0.438
18	29775364	T	A	18	32195401	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999978663905004	0.984
18	29775364	T	C	18	32195401	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.07875841938238E-4	0.002
18	29775364	T	G	18	32195401	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.070380418936926	0.358
18	29775365	G	A	18	32195402	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.66126576484552E-5	0.012
18	29775365	G	C	18	32195402	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.72056428667918E-5	0.002
18	29775365	G	T	18	32195402	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.45569321870064E-5	0.006
18	29775366	A	C	18	32195403	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00954965913372422	0.08
18	29775366	A	G	18	32195403	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0181682580766602	0.066
18	29775366	A	T	18	32195403	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0227790270648483	0.114
18	29775367	C	A	18	32195404	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99497039818658	0.804
18	29775367	C	G	18	32195404	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99986241937986	0.932
18	29775367	C	T	18	32195404	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0230877630943457	0.098
18	29775368	A	C	18	32195405	y	y	splicing	MEP1B(NM_005925:exon5:c.172-2A>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.76-2A>C;ENST00000269202:exon5:c.172-2A>C;ENST00000581447:exon5:c.172-2A>C)	.	.	0.999966203349492	0.93
18	29775368	A	G	18	32195405	y	y	splicing	MEP1B(NM_005925:exon5:c.172-2A>G)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.76-2A>G;ENST00000269202:exon5:c.172-2A>G;ENST00000581447:exon5:c.172-2A>G)	.	.	0.999966203349492	0.93
18	29775368	A	T	18	32195405	y	y	splicing	MEP1B(NM_005925:exon5:c.172-2A>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.76-2A>T;ENST00000269202:exon5:c.172-2A>T;ENST00000581447:exon5:c.172-2A>T)	.	.	0.999966203349492	0.926
18	29775369	G	A	18	32195406	y	y	splicing	MEP1B(NM_005925:exon5:c.172-1G>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.76-1G>A;ENST00000269202:exon5:c.172-1G>A;ENST00000581447:exon5:c.172-1G>A)	.	.	0.999938422912956	0.926
18	29775369	G	C	18	32195406	y	y	splicing	MEP1B(NM_005925:exon5:c.172-1G>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.76-1G>C;ENST00000269202:exon5:c.172-1G>C;ENST00000581447:exon5:c.172-1G>C)	.	.	0.999938422912956	0.93
18	29775369	G	T	18	32195406	y	y	splicing	MEP1B(NM_005925:exon5:c.172-1G>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.76-1G>T;ENST00000269202:exon5:c.172-1G>T;ENST00000581447:exon5:c.172-1G>T)	.	.	0.999938422912956	0.93
18	29775370	G	A	18	32195407	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.G172A:p.A58T;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.G76A:p.A26T;ENSG00000141434:ENST00000581447:exon5:c.G172A:p.A58T;ENSG00000141434:ENST00000269202:exon5:c.G172A:p.A58T;	0.0122768081050208	0.178
18	29775370	G	C	18	32195407	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.G172C:p.A58P;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.G76C:p.A26P;ENSG00000141434:ENST00000581447:exon5:c.G172C:p.A58P;ENSG00000141434:ENST00000269202:exon5:c.G172C:p.A58P;	0.010593157303495	0.302
18	29775370	G	T	18	32195407	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.G172T:p.A58S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.G76T:p.A26S;ENSG00000141434:ENST00000581447:exon5:c.G172T:p.A58S;ENSG00000141434:ENST00000269202:exon5:c.G172T:p.A58S;	0.167002359515246	0.568
18	29775371	C	A	18	32195408	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.C173A:p.A58E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.C77A:p.A26E;ENSG00000141434:ENST00000581447:exon5:c.C173A:p.A58E;ENSG00000141434:ENST00000269202:exon5:c.C173A:p.A58E;	4.89670348588261E-5	0.0
18	29775371	C	G	18	32195408	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.C173G:p.A58G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.C77G:p.A26G;ENSG00000141434:ENST00000581447:exon5:c.C173G:p.A58G;ENSG00000141434:ENST00000269202:exon5:c.C173G:p.A58G;	1.5796747242712E-5	0.0
18	29775371	C	T	18	32195408	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.C173T:p.A58V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.C77T:p.A26V;ENSG00000141434:ENST00000581447:exon5:c.C173T:p.A58V;ENSG00000141434:ENST00000269202:exon5:c.C173T:p.A58V;	4.60075432010217E-5	0.004
18	29775446	T	A	18	32195483	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon5:c.T248A:p.L83X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000581184:exon5:c.T152A:p.L51X;ENSG00000141434:ENST00000581447:exon5:c.T248A:p.L83X;ENSG00000141434:ENST00000269202:exon5:c.T248A:p.L83X;	0.598037181265734	0.688
18	29775446	T	C	18	32195483	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.T248C:p.L83S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.T152C:p.L51S;ENSG00000141434:ENST00000581447:exon5:c.T248C:p.L83S;ENSG00000141434:ENST00000269202:exon5:c.T248C:p.L83S;	0.72541055827947	0.622
18	29775446	T	G	18	32195483	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.T248G:p.L83W;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.T152G:p.L51W;ENSG00000141434:ENST00000581447:exon5:c.T248G:p.L83W;ENSG00000141434:ENST00000269202:exon5:c.T248G:p.L83W;	0.598240095384577	0.666
18	29775447	G	A	18	32195484	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon5:c.G249A:p.L83L;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.G153A:p.L51L;ENSG00000141434:ENST00000581447:exon5:c.G249A:p.L83L;ENSG00000141434:ENST00000269202:exon5:c.G249A:p.L83L;	0.011587652038373	0.092
18	29775447	G	C	18	32195484	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.G249C:p.L83F;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.G153C:p.L51F;ENSG00000141434:ENST00000581447:exon5:c.G249C:p.L83F;ENSG00000141434:ENST00000269202:exon5:c.G249C:p.L83F;	0.98128496257818	0.69
18	29775447	G	T	18	32195484	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.G249T:p.L83F;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.G153T:p.L51F;ENSG00000141434:ENST00000581447:exon5:c.G249T:p.L83F;ENSG00000141434:ENST00000269202:exon5:c.G249T:p.L83F;	0.983866322666832	0.748
18	29775448	G	A	18	32195485	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.G250A:p.E84K;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.G154A:p.E52K;ENSG00000141434:ENST00000581447:exon5:c.G250A:p.E84K;ENSG00000141434:ENST00000269202:exon5:c.G250A:p.E84K;	0.999997496100968	1.0
18	29775448	G	C	18	32195485	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon5:c.G250C:p.E84Q;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon5:c.G154C:p.E52Q;ENSG00000141434:ENST00000581447:exon5:c.G250C:p.E84Q;ENSG00000141434:ENST00000269202:exon5:c.G250C:p.E84Q;	0.999998106073408	1.0
18	29775448	G	T	18	32195485	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon5:c.G250T:p.E84X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000581184:exon5:c.G154T:p.E52X;ENSG00000141434:ENST00000581447:exon5:c.G250T:p.E84X;ENSG00000141434:ENST00000269202:exon5:c.G250T:p.E84X;	0.999991926426842	1.0
18	29775449	G	A	18	32195486	y	y	splicing	MEP1B(NM_005925:exon5:c.250+1G>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.154+1G>A;ENST00000269202:exon5:c.250+1G>A;ENST00000581447:exon5:c.250+1G>A)	.	.	0.999988247793601	0.926
18	29775449	G	C	18	32195486	y	y	splicing	MEP1B(NM_005925:exon5:c.250+1G>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.154+1G>C;ENST00000269202:exon5:c.250+1G>C;ENST00000581447:exon5:c.250+1G>C)	.	.	0.999988247793601	0.926
18	29775449	G	T	18	32195486	y	y	splicing	MEP1B(NM_005925:exon5:c.250+1G>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.154+1G>T;ENST00000269202:exon5:c.250+1G>T;ENST00000581447:exon5:c.250+1G>T)	.	.	0.999988247793601	0.926
18	29775450	T	A	18	32195487	y	y	splicing	MEP1B(NM_005925:exon5:c.250+2T>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.154+2T>A;ENST00000269202:exon5:c.250+2T>A;ENST00000581447:exon5:c.250+2T>A)	.	.	0.999993519952936	0.916
18	29775450	T	C	18	32195487	y	y	splicing	MEP1B(NM_005925:exon5:c.250+2T>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.154+2T>C;ENST00000269202:exon5:c.250+2T>C;ENST00000581447:exon5:c.250+2T>C)	.	.	0.999935627936562	0.846
18	29775450	T	G	18	32195487	y	y	splicing	MEP1B(NM_005925:exon5:c.250+2T>G)	.	.	splicing	ENSG00000141434(ENST00000581184:exon5:c.154+2T>G;ENST00000269202:exon5:c.250+2T>G;ENST00000581447:exon5:c.250+2T>G)	.	.	0.999993519952936	0.916
18	29775451	T	A	18	32195488	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00430964984808509	0.098
18	29775451	T	C	18	32195488	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00461166661421348	0.112
18	29775451	T	G	18	32195488	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0066397968680211	0.076
18	29775452	A	C	18	32195489	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999680295881458	0.782
18	29775452	A	G	18	32195489	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999690629802035	0.808
18	29775452	A	T	18	32195489	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999148148516118	0.878
18	29775453	G	A	18	32195490	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999919582967806	0.996
18	29775453	G	C	18	32195490	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999919582967806	0.966
18	29775453	G	T	18	32195490	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999968546083004	0.984
18	29775454	T	A	18	32195491	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998921037258163	0.796
18	29775454	T	C	18	32195491	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999610776905164	0.9
18	29775454	T	G	18	32195491	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999037838490532	0.844
18	29775455	A	C	18	32195492	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00636285560393464	0.066
18	29775455	A	G	18	32195492	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00998874893595046	0.058
18	29775455	A	T	18	32195492	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00539330334872965	0.106
18	29775456	T	A	18	32195493	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.85653239098978E-5	0.002
18	29775456	T	C	18	32195493	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.67948068319571E-5	0.002
18	29775456	T	G	18	32195493	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.52963454865561E-5	0.0
18	29782844	T	A	18	32202881	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.94484772756762E-4	0.11
18	29782844	T	C	18	32202881	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.55533873075216E-5	0.014
18	29782844	T	G	18	32202881	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.40169002485747E-4	0.096
18	29782845	T	A	18	32202882	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00263603364513711	0.26
18	29782845	T	C	18	32202882	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.31678104957129E-4	0.036
18	29782845	T	G	18	32202882	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0166930386841468	0.14
18	29782846	C	A	18	32202883	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0076607596024564	0.088
18	29782846	C	G	18	32202883	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00468392944052929	0.066
18	29782846	C	T	18	32202883	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.25439268530003E-5	0.008
18	29782847	T	A	18	32202884	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.03741551236014E-4	0.132
18	29782847	T	C	18	32202884	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.36193510820444E-5	0.082
18	29782847	T	G	18	32202884	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.80492516582183E-4	0.158
18	29782848	T	A	18	32202885	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0332327846046327	0.188
18	29782848	T	C	18	32202885	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00242463742561016	0.038
18	29782848	T	G	18	32202885	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0244430636625522	0.164
18	29782849	C	A	18	32202886	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00204615008926044	0.076
18	29782849	C	G	18	32202886	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00200252919417486	0.174
18	29782849	C	T	18	32202886	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.01934308322921E-4	0.0
18	29782850	C	A	18	32202887	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00268899063042263	0.068
18	29782850	C	G	18	32202887	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00529464319910269	0.078
18	29782850	C	T	18	32202887	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.51340860377348E-5	0.0
18	29782851	T	A	18	32202888	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00624353033959316	0.094
18	29782851	T	C	18	32202888	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.98789754831003E-4	0.032
18	29782851	T	G	18	32202888	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00928375399550507	0.156
18	29782852	T	A	18	32202889	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0156225910821612	0.08
18	29782852	T	C	18	32202889	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0026068555341739	0.014
18	29782852	T	G	18	32202889	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0267464081811945	0.028
18	29782853	C	A	18	32202890	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.986887538499216	0.768
18	29782853	C	G	18	32202890	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999873424801307	0.942
18	29782853	C	T	18	32202890	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00919918551083559	0.074
18	29782854	A	C	18	32202891	y	y	splicing	MEP1B(NM_005925:exon6:c.251-2A>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.155-2A>C;ENST00000269202:exon6:c.251-2A>C;ENST00000581447:exon6:c.251-2A>C)	.	.	0.999988247793601	0.928
18	29782854	A	G	18	32202891	y	y	splicing	MEP1B(NM_005925:exon6:c.251-2A>G)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.155-2A>G;ENST00000269202:exon6:c.251-2A>G;ENST00000581447:exon6:c.251-2A>G)	.	.	0.999988247793601	0.928
18	29782854	A	T	18	32202891	y	y	splicing	MEP1B(NM_005925:exon6:c.251-2A>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.155-2A>T;ENST00000269202:exon6:c.251-2A>T;ENST00000581447:exon6:c.251-2A>T)	.	.	0.999988247793601	0.928
18	29782855	G	A	18	32202892	y	y	splicing	MEP1B(NM_005925:exon6:c.251-1G>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.155-1G>A;ENST00000269202:exon6:c.251-1G>A;ENST00000581447:exon6:c.251-1G>A)	.	.	0.999985532734767	0.936
18	29782855	G	C	18	32202892	y	y	splicing	MEP1B(NM_005925:exon6:c.251-1G>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.155-1G>C;ENST00000269202:exon6:c.251-1G>C;ENST00000581447:exon6:c.251-1G>C)	.	.	0.999985532734767	0.936
18	29782855	G	T	18	32202892	y	y	splicing	MEP1B(NM_005925:exon6:c.251-1G>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.155-1G>T;ENST00000269202:exon6:c.251-1G>T;ENST00000581447:exon6:c.251-1G>T)	.	.	0.999985532734767	0.936
18	29782856	A	C	18	32202893	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.A251C:p.E84A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.A155C:p.E52A;ENSG00000141434:ENST00000581447:exon6:c.A251C:p.E84A;ENSG00000141434:ENST00000269202:exon6:c.A251C:p.E84A;	0.00680732050941552	0.132
18	29782856	A	G	18	32202893	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.A251G:p.E84G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.A155G:p.E52G;ENSG00000141434:ENST00000581447:exon6:c.A251G:p.E84G;ENSG00000141434:ENST00000269202:exon6:c.A251G:p.E84G;	0.00200338885163868	0.076
18	29782856	A	T	18	32202893	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.A251T:p.E84V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.A155T:p.E52V;ENSG00000141434:ENST00000581447:exon6:c.A251T:p.E84V;ENSG00000141434:ENST00000269202:exon6:c.A251T:p.E84V;	0.0102086734606796	0.2
18	29782857	A	C	18	32202894	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.A252C:p.E84D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.A156C:p.E52D;ENSG00000141434:ENST00000581447:exon6:c.A252C:p.E84D;ENSG00000141434:ENST00000269202:exon6:c.A252C:p.E84D;	4.4164074516093E-4	0.024
18	29782857	A	G	18	32202894	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon6:c.A252G:p.E84E;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.A156G:p.E52E;ENSG00000141434:ENST00000581447:exon6:c.A252G:p.E84E;ENSG00000141434:ENST00000269202:exon6:c.A252G:p.E84E;	8.00335739330093E-5	0.024
18	29782857	A	T	18	32202894	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.A252T:p.E84D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.A156T:p.E52D;ENSG00000141434:ENST00000581447:exon6:c.A252T:p.E84D;ENSG00000141434:ENST00000269202:exon6:c.A252T:p.E84D;	2.65354209825707E-4	0.002
18	29782971	T	A	18	32203008	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.T366A:p.S122R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.T270A:p.S90R;ENSG00000141434:ENST00000581447:exon6:c.T366A:p.S122R;ENSG00000141434:ENST00000269202:exon6:c.T366A:p.S122R;	6.05130292368629E-5	0.244
18	29782971	T	C	18	32203008	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon6:c.T366C:p.S122S;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.T270C:p.S90S;ENSG00000141434:ENST00000581447:exon6:c.T366C:p.S122S;ENSG00000141434:ENST00000269202:exon6:c.T366C:p.S122S;	4.49920511768292E-5	0.002
18	29782971	T	G	18	32203008	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.T366G:p.S122R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.T270G:p.S90R;ENSG00000141434:ENST00000581447:exon6:c.T366G:p.S122R;ENSG00000141434:ENST00000269202:exon6:c.T366G:p.S122R;	1.28900210941932E-4	0.164
18	29782972	G	A	18	32203009	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.G367A:p.G123S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.G271A:p.G91S;ENSG00000141434:ENST00000581447:exon6:c.G367A:p.G123S;ENSG00000141434:ENST00000269202:exon6:c.G367A:p.G123S;	0.966830915401168	0.7
18	29782972	G	C	18	32203009	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.G367C:p.G123R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.G271C:p.G91R;ENSG00000141434:ENST00000581447:exon6:c.G367C:p.G123R;ENSG00000141434:ENST00000269202:exon6:c.G367C:p.G123R;	0.990362942810441	0.946
18	29782972	G	T	18	32203009	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.G367T:p.G123C;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.G271T:p.G91C;ENSG00000141434:ENST00000581447:exon6:c.G367T:p.G123C;ENSG00000141434:ENST00000269202:exon6:c.G367T:p.G123C;	0.994344881038341	0.864
18	29782973	G	A	18	32203010	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.G368A:p.G123D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.G272A:p.G91D;ENSG00000141434:ENST00000581447:exon6:c.G368A:p.G123D;ENSG00000141434:ENST00000269202:exon6:c.G368A:p.G123D;	0.999844028859987	0.988
18	29782973	G	C	18	32203010	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.G368C:p.G123A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.G272C:p.G91A;ENSG00000141434:ENST00000581447:exon6:c.G368C:p.G123A;ENSG00000141434:ENST00000269202:exon6:c.G368C:p.G123A;	0.999930794599654	0.97
18	29782973	G	T	18	32203010	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon6:c.G368T:p.G123V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon6:c.G272T:p.G91V;ENSG00000141434:ENST00000581447:exon6:c.G368T:p.G123V;ENSG00000141434:ENST00000269202:exon6:c.G368T:p.G123V;	0.999514744522637	0.876
18	29782974	G	A	18	32203011	y	y	splicing	MEP1B(NM_005925:exon6:c.368+1G>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.272+1G>A;ENST00000269202:exon6:c.368+1G>A;ENST00000581447:exon6:c.368+1G>A)	.	.	0.999985532734767	0.938
18	29782974	G	C	18	32203011	y	y	splicing	MEP1B(NM_005925:exon6:c.368+1G>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.272+1G>C;ENST00000269202:exon6:c.368+1G>C;ENST00000581447:exon6:c.368+1G>C)	.	.	0.999985532734767	0.938
18	29782974	G	T	18	32203011	y	y	splicing	MEP1B(NM_005925:exon6:c.368+1G>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.272+1G>T;ENST00000269202:exon6:c.368+1G>T;ENST00000581447:exon6:c.368+1G>T)	.	.	0.999985532734767	0.938
18	29782975	T	A	18	32203012	y	y	splicing	MEP1B(NM_005925:exon6:c.368+2T>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.272+2T>A;ENST00000269202:exon6:c.368+2T>A;ENST00000581447:exon6:c.368+2T>A)	.	.	0.999988247793601	0.93
18	29782975	T	C	18	32203012	y	y	splicing	MEP1B(NM_005925:exon6:c.368+2T>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.272+2T>C;ENST00000269202:exon6:c.368+2T>C;ENST00000581447:exon6:c.368+2T>C)	.	.	0.99340600729494	0.678
18	29782975	T	G	18	32203012	y	y	splicing	MEP1B(NM_005925:exon6:c.368+2T>G)	.	.	splicing	ENSG00000141434(ENST00000581184:exon6:c.272+2T>G;ENST00000269202:exon6:c.368+2T>G;ENST00000581447:exon6:c.368+2T>G)	.	.	0.999988247793601	0.93
18	29782976	A	C	18	32203013	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.899766532325386	0.702
18	29782976	A	G	18	32203013	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00125889661475477	0.124
18	29782976	A	T	18	32203013	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.979589573974715	0.74
18	29782977	A	C	18	32203014	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.709349008120457	0.434
18	29782977	A	G	18	32203014	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.939740111624315	0.672
18	29782977	A	T	18	32203014	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.911807714923169	0.518
18	29782978	G	A	18	32203015	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999481110353612	0.984
18	29782978	G	C	18	32203015	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99667599647617	0.964
18	29782978	G	T	18	32203015	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999575645478773	0.91
18	29782979	T	A	18	32203016	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00981989891922861	0.284
18	29782979	T	C	18	32203016	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0331830988207377	0.43
18	29782979	T	G	18	32203016	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00159243202300822	0.216
18	29782980	T	A	18	32203017	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.61961510010392E-4	0.004
18	29782980	T	C	18	32203017	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.2920705451824E-4	0.032
18	29782980	T	G	18	32203017	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.2920705451824E-4	0.034
18	29782981	G	A	18	32203018	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.91949659011321E-4	0.0
18	29782981	G	C	18	32203018	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.95768322207563E-4	0.004
18	29782981	G	T	18	32203018	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.91949659011321E-4	0.002
18	29784133	C	A	18	32204170	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.00002144116699E-4	0.074
18	29784133	C	G	18	32204170	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998503328806748	0.974
18	29784133	C	T	18	32204170	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.70172809761864E-5	0.05
18	29784134	T	A	18	32204171	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.915738627301707	0.496
18	29784134	T	C	18	32204171	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00498498322991646	0.388
18	29784134	T	G	18	32204171	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.938618580331102	0.49
18	29784135	C	A	18	32204172	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00566735741179158	0.154
18	29784135	C	G	18	32204172	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.96888476623016E-4	0.062
18	29784135	C	T	18	32204172	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.58888889312794E-5	0.034
18	29784136	T	A	18	32204173	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0385715835786191	0.488
18	29784136	T	C	18	32204173	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.48155447190946E-4	0.054
18	29784136	T	G	18	32204173	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0173803262769344	0.434
18	29784137	C	A	18	32204174	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0105365270447904	0.166
18	29784137	C	G	18	32204174	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00436218503831016	0.138
18	29784137	C	T	18	32204174	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.80886432808134E-4	0.08
18	29784138	C	A	18	32204175	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.096844986217789	0.28
18	29784138	C	G	18	32204175	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.1563980987801	0.322
18	29784138	C	T	18	32204175	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.82444761085472E-5	0.022
18	29784139	T	A	18	32204176	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998796464447187	0.962
18	29784139	T	C	18	32204176	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.12819495862639E-4	0.038
18	29784139	T	G	18	32204176	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.67039677598964	0.612
18	29784140	G	A	18	32204177	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.7819790021062E-5	0.032
18	29784140	G	C	18	32204177	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.87998016647132E-5	0.0
18	29784140	G	T	18	32204177	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.05514017917248E-5	0.024
18	29784141	T	A	18	32204178	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.70420220866571E-5	0.038
18	29784141	T	C	18	32204178	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.68652784238493E-5	0.022
18	29784141	T	G	18	32204178	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.22361065454838E-5	0.014
18	29784142	A	C	18	32204179	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.40580202392539E-4	0.072
18	29784142	A	G	18	32204179	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00562697872154987	0.224
18	29784142	A	T	18	32204179	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.09905654818994E-5	0.028
18	29784143	A	C	18	32204180	y	y	splicing	MEP1B(NM_005925:exon7:c.369-2A>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon7:c.273-2A>C;ENST00000269202:exon7:c.369-2A>C;ENST00000581447:exon7:c.369-2A>C)	.	.	0.99994515364607	0.876
18	29784143	A	G	18	32204180	y	y	splicing	MEP1B(NM_005925:exon7:c.369-2A>G)	.	.	splicing	ENSG00000141434(ENST00000581184:exon7:c.273-2A>G;ENST00000269202:exon7:c.369-2A>G;ENST00000581447:exon7:c.369-2A>G)	.	.	0.99994515364607	0.876
18	29784143	A	T	18	32204180	y	y	splicing	MEP1B(NM_005925:exon7:c.369-2A>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon7:c.273-2A>T;ENST00000269202:exon7:c.369-2A>T;ENST00000581447:exon7:c.369-2A>T)	.	.	0.99994515364607	0.878
18	29784144	G	A	18	32204181	y	y	splicing	MEP1B(NM_005925:exon7:c.369-1G>A)	.	.	splicing	ENSG00000141434(ENST00000581184:exon7:c.273-1G>A;ENST00000269202:exon7:c.369-1G>A;ENST00000581447:exon7:c.369-1G>A)	.	.	0.999981919071965	0.878
18	29784144	G	C	18	32204181	y	y	splicing	MEP1B(NM_005925:exon7:c.369-1G>C)	.	.	splicing	ENSG00000141434(ENST00000581184:exon7:c.273-1G>C;ENST00000269202:exon7:c.369-1G>C;ENST00000581447:exon7:c.369-1G>C)	.	.	0.999981919071965	0.878
18	29784144	G	T	18	32204181	y	y	splicing	MEP1B(NM_005925:exon7:c.369-1G>T)	.	.	splicing	ENSG00000141434(ENST00000581184:exon7:c.273-1G>T;ENST00000269202:exon7:c.369-1G>T;ENST00000581447:exon7:c.369-1G>T)	.	.	0.999981919071965	0.878
18	29784145	C	A	18	32204182	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon7:c.C369A:p.G123G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon7:c.C273A:p.G91G;ENSG00000141434:ENST00000581447:exon7:c.C369A:p.G123G;ENSG00000141434:ENST00000269202:exon7:c.C369A:p.G123G;	2.4838836509351E-5	0.002
18	29784145	C	G	18	32204182	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon7:c.C369G:p.G123G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon7:c.C273G:p.G91G;ENSG00000141434:ENST00000581447:exon7:c.C369G:p.G123G;ENSG00000141434:ENST00000269202:exon7:c.C369G:p.G123G;	6.22880372554354E-4	0.084
18	29784145	C	T	18	32204182	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon7:c.C369T:p.G123G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581184:exon7:c.C273T:p.G91G;ENSG00000141434:ENST00000581447:exon7:c.C369T:p.G123G;ENSG00000141434:ENST00000269202:exon7:c.C369T:p.G123G;	8.79208008059961E-4	0.126
18	29784146	T	A	18	32204183	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon7:c.T370A:p.C124S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon7:c.T274A:p.C92S;ENSG00000141434:ENST00000581447:exon7:c.T370A:p.C124S;ENSG00000141434:ENST00000269202:exon7:c.T370A:p.C124S;	0.647174656890621	0.554
18	29784146	T	C	18	32204183	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon7:c.T370C:p.C124R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon7:c.T274C:p.C92R;ENSG00000141434:ENST00000581447:exon7:c.T370C:p.C124R;ENSG00000141434:ENST00000269202:exon7:c.T370C:p.C124R;	0.646105466780914	0.528
18	29784146	T	G	18	32204183	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon7:c.T370G:p.C124G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581184:exon7:c.T274G:p.C92G;ENSG00000141434:ENST00000581447:exon7:c.T370G:p.C124G;ENSG00000141434:ENST00000269202:exon7:c.T370G:p.C124G;	0.479075491270239	0.518
18	29784321	C	A	18	32204358	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon7:c.C545A:p.S182X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000581447:exon7:c.C545A:p.S182X;ENSG00000141434:ENST00000269202:exon7:c.C545A:p.S182X;	0.00643650711256022	0.172
18	29784321	C	G	18	32204358	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon7:c.C545G:p.S182X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000581447:exon7:c.C545G:p.S182X;ENSG00000141434:ENST00000269202:exon7:c.C545G:p.S182X;	0.00976050247665067	0.152
18	29784321	C	T	18	32204358	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon7:c.C545T:p.S182L;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon7:c.C545T:p.S182L;ENSG00000141434:ENST00000269202:exon7:c.C545T:p.S182L;	0.962252794420839	0.812
18	29784322	A	C	18	32204359	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon7:c.A546C:p.S182S;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon7:c.A546C:p.S182S;ENSG00000141434:ENST00000269202:exon7:c.A546C:p.S182S;	0.980799333786859	0.916
18	29784322	A	G	18	32204359	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon7:c.A546G:p.S182S;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon7:c.A546G:p.S182S;ENSG00000141434:ENST00000269202:exon7:c.A546G:p.S182S;	0.999533914830425	0.966
18	29784322	A	T	18	32204359	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon7:c.A546T:p.S182S;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon7:c.A546T:p.S182S;ENSG00000141434:ENST00000269202:exon7:c.A546T:p.S182S;	0.999617434753636	0.954
18	29784323	G	A	18	32204360	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon7:c.G547A:p.G183S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon7:c.G547A:p.G183S;ENSG00000141434:ENST00000269202:exon7:c.G547A:p.G183S;	0.999996525892615	0.99
18	29784323	G	C	18	32204360	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon7:c.G547C:p.G183R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon7:c.G547C:p.G183R;ENSG00000141434:ENST00000269202:exon7:c.G547C:p.G183R;	0.999997843285471	1.0
18	29784323	G	T	18	32204360	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon7:c.G547T:p.G183C;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon7:c.G547T:p.G183C;ENSG00000141434:ENST00000269202:exon7:c.G547T:p.G183C;	0.999986518546576	1.0
18	29784324	G	A	18	32204361	y	y	splicing	MEP1B(NM_005925:exon7:c.547+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon7:c.547+1G>A;ENST00000581447:exon7:c.547+1G>A)	.	.	0.999990361384395	0.938
18	29784324	G	C	18	32204361	y	y	splicing	MEP1B(NM_005925:exon7:c.547+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon7:c.547+1G>C;ENST00000581447:exon7:c.547+1G>C)	.	.	0.999990361384395	0.938
18	29784324	G	T	18	32204361	y	y	splicing	MEP1B(NM_005925:exon7:c.547+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon7:c.547+1G>T;ENST00000581447:exon7:c.547+1G>T)	.	.	0.999990361384395	0.938
18	29784325	T	A	18	32204362	y	y	splicing	MEP1B(NM_005925:exon7:c.547+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon7:c.547+2T>A;ENST00000581447:exon7:c.547+2T>A)	.	.	0.999988247793601	0.932
18	29784325	T	C	18	32204362	y	y	splicing	MEP1B(NM_005925:exon7:c.547+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon7:c.547+2T>C;ENST00000581447:exon7:c.547+2T>C)	.	.	0.994877988051647	0.684
18	29784325	T	G	18	32204362	y	y	splicing	MEP1B(NM_005925:exon7:c.547+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon7:c.547+2T>G;ENST00000581447:exon7:c.547+2T>G)	.	.	0.999988247793601	0.932
18	29784326	A	C	18	32204363	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999952192476286	0.984
18	29784326	A	G	18	32204363	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.9994217126367	0.966
18	29784326	A	T	18	32204363	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998949455807311	0.968
18	29784327	C	A	18	32204364	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.55421817980697E-5	0.014
18	29784327	C	G	18	32204364	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.19289817676745E-4	0.01
18	29784327	C	T	18	32204364	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.24778988663385E-4	0.032
18	29784328	A	C	18	32204365	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.46167604144249E-4	0.1
18	29784328	A	G	18	32204365	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.93979975162485E-4	0.17
18	29784328	A	T	18	32204365	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.43132706451057E-4	0.058
18	29784329	T	A	18	32204366	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00256783427633305	0.198
18	29784329	T	C	18	32204366	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00182422443865521	0.25
18	29784329	T	G	18	32204366	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.49690176293541E-4	0.23
18	29784330	T	A	18	32204367	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00382218033603653	0.012
18	29784330	T	C	18	32204367	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00243483211121124	0.01
18	29784330	T	G	18	32204367	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.95350677510464E-4	0.004
18	29784331	T	A	18	32204368	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.00056604843034E-4	0.008
18	29784331	T	C	18	32204368	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.78380969718112E-4	0.012
18	29784331	T	G	18	32204368	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00138047338924106	0.058
18	29787203	T	A	18	32207240	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.467674723017477	0.392
18	29787203	T	C	18	32207240	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.11408657192939E-4	0.092
18	29787203	T	G	18	32207240	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999415769843765	0.922
18	29787204	T	A	18	32207241	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.844381717774695	0.544
18	29787204	T	C	18	32207241	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.33605361301712E-4	0.088
18	29787204	T	G	18	32207241	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.779969138803489	0.484
18	29787205	T	A	18	32207242	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.625383957470078	0.364
18	29787205	T	C	18	32207242	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.51343027589297E-5	0.07
18	29787205	T	G	18	32207242	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.48860625909379	0.37
18	29787206	A	C	18	32207243	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.55495039783015E-5	0.108
18	29787206	A	G	18	32207243	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.18458059472875E-5	0.054
18	29787206	A	T	18	32207243	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.60433432754571E-5	0.14
18	29787207	T	A	18	32207244	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.611615474625888	0.426
18	29787207	T	C	18	32207244	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00564170426982197	0.044
18	29787207	T	G	18	32207244	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999639458451617	0.97
18	29787208	C	A	18	32207245	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.57268764855864E-4	0.09
18	29787208	C	G	18	32207245	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00110451589302511	0.088
18	29787208	C	T	18	32207245	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.44643850833026E-5	0.002
18	29787209	C	A	18	32207246	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.97352300413008E-4	0.2
18	29787209	C	G	18	32207246	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00125665501359687	0.206
18	29787209	C	T	18	32207246	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.4928845343571E-5	0.0
18	29787210	T	A	18	32207247	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.863759965588426	0.544
18	29787210	T	C	18	32207247	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00467738319674357	0.032
18	29787210	T	G	18	32207247	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.959961322974102	0.612
18	29787211	T	A	18	32207248	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.72031392874506E-4	0.002
18	29787211	T	C	18	32207248	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.65892392744417E-5	0.0
18	29787211	T	G	18	32207248	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.69940752112975E-5	0.0
18	29787212	T	A	18	32207249	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.773376213269288	0.48
18	29787212	T	C	18	32207249	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.13898430123553E-4	0.01
18	29787212	T	G	18	32207249	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999850147661109	0.862
18	29787213	A	C	18	32207250	y	y	splicing	MEP1B(NM_005925:exon8:c.548-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.548-2A>C;ENST00000581447:exon8:c.548-2A>C)	.	.	0.999988247793601	0.928
18	29787213	A	G	18	32207250	y	y	splicing	MEP1B(NM_005925:exon8:c.548-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.548-2A>G;ENST00000581447:exon8:c.548-2A>G)	.	.	0.999988247793601	0.928
18	29787213	A	T	18	32207250	y	y	splicing	MEP1B(NM_005925:exon8:c.548-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.548-2A>T;ENST00000581447:exon8:c.548-2A>T)	.	.	0.999988247793601	0.928
18	29787214	G	A	18	32207251	y	y	splicing	MEP1B(NM_005925:exon8:c.548-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.548-1G>A;ENST00000581447:exon8:c.548-1G>A)	.	.	0.999986675681007	0.934
18	29787214	G	C	18	32207251	y	y	splicing	MEP1B(NM_005925:exon8:c.548-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.548-1G>C;ENST00000581447:exon8:c.548-1G>C)	.	.	0.999986675681007	0.934
18	29787214	G	T	18	32207251	y	y	splicing	MEP1B(NM_005925:exon8:c.548-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.548-1G>T;ENST00000581447:exon8:c.548-1G>T)	.	.	0.999986675681007	0.934
18	29787215	G	A	18	32207252	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.G548A:p.G183D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.G548A:p.G183D;ENSG00000141434:ENST00000269202:exon8:c.G548A:p.G183D;	0.822663341816459	0.546
18	29787215	G	C	18	32207252	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.G548C:p.G183A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.G548C:p.G183A;ENSG00000141434:ENST00000269202:exon8:c.G548C:p.G183A;	0.995664266820173	0.936
18	29787215	G	T	18	32207252	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.G548T:p.G183V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.G548T:p.G183V;ENSG00000141434:ENST00000269202:exon8:c.G548T:p.G183V;	0.998217809979162	0.964
18	29787216	C	A	18	32207253	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon8:c.C549A:p.G183G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.C549A:p.G183G;ENSG00000141434:ENST00000269202:exon8:c.C549A:p.G183G;	0.00163909161597184	0.088
18	29787216	C	G	18	32207253	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon8:c.C549G:p.G183G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.C549G:p.G183G;ENSG00000141434:ENST00000269202:exon8:c.C549G:p.G183G;	0.00139688352312263	0.07
18	29787216	C	T	18	32207253	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon8:c.C549T:p.G183G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.C549T:p.G183G;ENSG00000141434:ENST00000269202:exon8:c.C549T:p.G183G;	0.00143307483563704	0.05
18	29787431	G	A	18	32207468	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.G764A:p.C255Y;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.G764A:p.C255Y;ENSG00000141434:ENST00000269202:exon8:c.G764A:p.C255Y;	0.957426844128537	0.824
18	29787431	G	C	18	32207468	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.G764C:p.C255S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.G764C:p.C255S;ENSG00000141434:ENST00000269202:exon8:c.G764C:p.C255S;	0.96225676557852	0.716
18	29787431	G	T	18	32207468	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.G764T:p.C255F;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.G764T:p.C255F;ENSG00000141434:ENST00000269202:exon8:c.G764T:p.C255F;	0.988479487615262	0.78
18	29787432	C	A	18	32207469	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon8:c.C765A:p.C255X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000581447:exon8:c.C765A:p.C255X;ENSG00000141434:ENST00000269202:exon8:c.C765A:p.C255X;	0.0070474552193752	0.572
18	29787432	C	G	18	32207469	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.C765G:p.C255W;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.C765G:p.C255W;ENSG00000141434:ENST00000269202:exon8:c.C765G:p.C255W;	0.00323111992964385	0.176
18	29787432	C	T	18	32207469	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon8:c.C765T:p.C255C;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.C765T:p.C255C;ENSG00000141434:ENST00000269202:exon8:c.C765T:p.C255C;	0.00971612789487237	0.12
18	29787433	T	A	18	32207470	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.T766A:p.S256T;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.T766A:p.S256T;ENSG00000141434:ENST00000269202:exon8:c.T766A:p.S256T;	1.52005908991095E-5	0.002
18	29787433	T	C	18	32207470	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.T766C:p.S256P;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.T766C:p.S256P;ENSG00000141434:ENST00000269202:exon8:c.T766C:p.S256P;	7.26921039689719E-5	0.208
18	29787433	T	G	18	32207470	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon8:c.T766G:p.S256A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon8:c.T766G:p.S256A;ENSG00000141434:ENST00000269202:exon8:c.T766G:p.S256A;	1.29590219634136E-5	0.15
18	29787434	G	A	18	32207471	y	y	splicing	MEP1B(NM_005925:exon8:c.766+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.766+1G>A;ENST00000581447:exon8:c.766+1G>A)	.	.	0.999980303772886	0.916
18	29787434	G	C	18	32207471	y	y	splicing	MEP1B(NM_005925:exon8:c.766+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.766+1G>C;ENST00000581447:exon8:c.766+1G>C)	.	.	0.999980303772886	0.916
18	29787434	G	T	18	32207471	y	y	splicing	MEP1B(NM_005925:exon8:c.766+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.766+1G>T;ENST00000581447:exon8:c.766+1G>T)	.	.	0.999980303772886	0.916
18	29787435	T	A	18	32207472	y	y	splicing	MEP1B(NM_005925:exon8:c.766+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.766+2T>A;ENST00000581447:exon8:c.766+2T>A)	.	.	0.999979394981131	0.922
18	29787435	T	C	18	32207472	y	y	splicing	MEP1B(NM_005925:exon8:c.766+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.766+2T>C;ENST00000581447:exon8:c.766+2T>C)	.	.	0.974391334119754	0.646
18	29787435	T	G	18	32207472	y	y	splicing	MEP1B(NM_005925:exon8:c.766+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon8:c.766+2T>G;ENST00000581447:exon8:c.766+2T>G)	.	.	0.999979394981131	0.922
18	29787436	A	C	18	32207473	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999963482537865	0.944
18	29787436	A	G	18	32207473	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998898937822661	0.886
18	29787436	A	T	18	32207473	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999974579500489	0.952
18	29787437	T	A	18	32207474	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.27549958314755E-4	0.05
18	29787437	T	C	18	32207474	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.82364224913086E-4	0.242
18	29787437	T	G	18	32207474	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00132105726616017	0.11
18	29787438	G	A	18	32207475	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999971639888651	0.966
18	29787438	G	C	18	32207475	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999947478746521	0.982
18	29787438	G	T	18	32207475	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999963213963749	0.938
18	29787439	T	A	18	32207476	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999335305067897	0.856
18	29787439	T	C	18	32207476	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.997885935520235	0.912
18	29787439	T	G	18	32207476	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998508118040148	0.892
18	29787440	G	A	18	32207477	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.82360918970293E-6	0.05
18	29787440	G	C	18	32207477	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.67137039563016E-6	0.052
18	29787440	G	T	18	32207477	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.73441194951729E-5	0.038
18	29787441	A	C	18	32207478	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.93374332974975E-5	0.02
18	29787441	A	G	18	32207478	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.38076177893709E-5	0.072
18	29787441	A	T	18	32207478	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.22388270974176E-5	0.002
18	29788070	T	A	18	32208107	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99998221411637	0.95
18	29788070	T	C	18	32208107	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.270807741575468	0.424
18	29788070	T	G	18	32208107	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.715292125229483	0.554
18	29788071	G	A	18	32208108	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.25612883418733E-4	0.142
18	29788071	G	C	18	32208108	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.40339841073062E-4	0.174
18	29788071	G	T	18	32208108	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.02606744950765E-4	0.318
18	29788072	C	A	18	32208109	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.99184019170952E-4	0.11
18	29788072	C	G	18	32208109	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.70142347684195E-5	0.09
18	29788072	C	T	18	32208109	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.18402105775444E-4	0.284
18	29788073	T	A	18	32208110	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.04938784306735E-4	0.09
18	29788073	T	C	18	32208110	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.66027775226361E-5	0.01
18	29788073	T	G	18	32208110	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.67002908311086E-4	0.096
18	29788074	T	A	18	32208111	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00986482256540151	0.16
18	29788074	T	C	18	32208111	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.03635556869059E-5	0.008
18	29788074	T	G	18	32208111	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00498065693709034	0.09
18	29788075	T	A	18	32208112	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.22439706226024E-4	0.098
18	29788075	T	C	18	32208112	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.04150727448878E-5	0.054
18	29788075	T	G	18	32208112	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00319990110119564	0.14
18	29788076	T	A	18	32208113	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0231963250962423	0.21
18	29788076	T	C	18	32208113	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.57861365052547E-4	0.062
18	29788076	T	G	18	32208113	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00774241263743739	0.158
18	29788077	T	A	18	32208114	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999908139965776	0.886
18	29788077	T	C	18	32208114	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.09486230672774E-4	0.026
18	29788077	T	G	18	32208114	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.037483022853619	0.326
18	29788078	G	A	18	32208115	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.49877116391617E-4	0.0
18	29788078	G	C	18	32208115	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.297162351962E-4	0.002
18	29788078	G	T	18	32208115	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.55748042448102E-4	0.004
18	29788079	T	A	18	32208116	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.96150492805631E-4	0.114
18	29788079	T	C	18	32208116	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.97491002688484E-5	0.004
18	29788079	T	G	18	32208116	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.890637895612888	0.694
18	29788080	A	C	18	32208117	y	y	splicing	MEP1B(NM_005925:exon9:c.767-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.767-2A>C;ENST00000581447:exon9:c.767-2A>C)	.	.	0.999988247793601	0.926
18	29788080	A	G	18	32208117	y	y	splicing	MEP1B(NM_005925:exon9:c.767-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.767-2A>G;ENST00000581447:exon9:c.767-2A>G)	.	.	0.999988247793601	0.926
18	29788080	A	T	18	32208117	y	y	splicing	MEP1B(NM_005925:exon9:c.767-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.767-2A>T;ENST00000581447:exon9:c.767-2A>T)	.	.	0.999988247793601	0.926
18	29788081	G	A	18	32208118	y	y	splicing	MEP1B(NM_005925:exon9:c.767-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.767-1G>A;ENST00000581447:exon9:c.767-1G>A)	.	.	0.999986675681007	0.934
18	29788081	G	C	18	32208118	y	y	splicing	MEP1B(NM_005925:exon9:c.767-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.767-1G>C;ENST00000581447:exon9:c.767-1G>C)	.	.	0.999986675681007	0.932
18	29788081	G	T	18	32208118	y	y	splicing	MEP1B(NM_005925:exon9:c.767-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.767-1G>T;ENST00000581447:exon9:c.767-1G>T)	.	.	0.999986675681007	0.934
18	29788082	C	A	18	32208119	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.C767A:p.S256Y;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.C767A:p.S256Y;ENSG00000141434:ENST00000269202:exon9:c.C767A:p.S256Y;	0.939569126543265	0.742
18	29788082	C	G	18	32208119	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.C767G:p.S256C;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.C767G:p.S256C;ENSG00000141434:ENST00000269202:exon9:c.C767G:p.S256C;	0.928547602831127	0.654
18	29788082	C	T	18	32208119	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.C767T:p.S256F;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.C767T:p.S256F;ENSG00000141434:ENST00000269202:exon9:c.C767T:p.S256F;	0.978384501916916	0.75
18	29788083	C	A	18	32208120	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon9:c.C768A:p.S256S;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.C768A:p.S256S;ENSG00000141434:ENST00000269202:exon9:c.C768A:p.S256S;	4.62871970782478E-5	0.004
18	29788083	C	G	18	32208120	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon9:c.C768G:p.S256S;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.C768G:p.S256S;ENSG00000141434:ENST00000269202:exon9:c.C768G:p.S256S;	5.5738040105995E-5	0.006
18	29788083	C	T	18	32208120	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon9:c.C768T:p.S256S;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.C768T:p.S256S;ENSG00000141434:ENST00000269202:exon9:c.C768T:p.S256S;	9.87489091160423E-5	0.004
18	29788232	A	C	18	32208269	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.A917C:p.Q306P;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.A917C:p.Q306P;ENSG00000141434:ENST00000269202:exon9:c.A917C:p.Q306P;	1.26929266451092E-4	0.002
18	29788232	A	G	18	32208269	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.A917G:p.Q306R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.A917G:p.Q306R;ENSG00000141434:ENST00000269202:exon9:c.A917G:p.Q306R;	1.8343846466904E-4	0.008
18	29788232	A	T	18	32208269	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.A917T:p.Q306L;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.A917T:p.Q306L;ENSG00000141434:ENST00000269202:exon9:c.A917T:p.Q306L;	0.13626090528654	0.536
18	29788233	A	C	18	32208270	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.A918C:p.Q306H;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.A918C:p.Q306H;ENSG00000141434:ENST00000269202:exon9:c.A918C:p.Q306H;	0.96519530181994	0.798
18	29788233	A	G	18	32208270	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon9:c.A918G:p.Q306Q;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.A918G:p.Q306Q;ENSG00000141434:ENST00000269202:exon9:c.A918G:p.Q306Q;	0.994484888253071	0.9
18	29788233	A	T	18	32208270	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.A918T:p.Q306H;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.A918T:p.Q306H;ENSG00000141434:ENST00000269202:exon9:c.A918T:p.Q306H;	0.998810702204598	0.966
18	29788234	G	A	18	32208271	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.G919A:p.G307S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.G919A:p.G307S;ENSG00000141434:ENST00000269202:exon9:c.G919A:p.G307S;	0.999995919348714	1.0
18	29788234	G	C	18	32208271	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.G919C:p.G307R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.G919C:p.G307R;ENSG00000141434:ENST00000269202:exon9:c.G919C:p.G307R;	0.999996849704514	1.0
18	29788234	G	T	18	32208271	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon9:c.G919T:p.G307C;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon9:c.G919T:p.G307C;ENSG00000141434:ENST00000269202:exon9:c.G919T:p.G307C;	0.999985526189885	0.998
18	29788235	G	A	18	32208272	y	y	splicing	MEP1B(NM_005925:exon9:c.919+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.919+1G>A;ENST00000581447:exon9:c.919+1G>A)	.	.	0.999986675681007	0.934
18	29788235	G	C	18	32208272	y	y	splicing	MEP1B(NM_005925:exon9:c.919+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.919+1G>C;ENST00000581447:exon9:c.919+1G>C)	.	.	0.999986675681007	0.934
18	29788235	G	T	18	32208272	y	y	splicing	MEP1B(NM_005925:exon9:c.919+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.919+1G>T;ENST00000581447:exon9:c.919+1G>T)	.	.	0.999986675681007	0.934
18	29788236	T	A	18	32208273	y	y	splicing	MEP1B(NM_005925:exon9:c.919+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.919+2T>A;ENST00000581447:exon9:c.919+2T>A)	.	.	0.999988247793601	0.928
18	29788236	T	C	18	32208273	y	y	splicing	MEP1B(NM_005925:exon9:c.919+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.919+2T>C;ENST00000581447:exon9:c.919+2T>C)	.	.	0.992054276455321	0.626
18	29788236	T	G	18	32208273	y	y	splicing	MEP1B(NM_005925:exon9:c.919+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon9:c.919+2T>G;ENST00000581447:exon9:c.919+2T>G)	.	.	0.999988247793601	0.928
18	29788237	A	C	18	32208274	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999870272528261	0.914
18	29788237	A	G	18	32208274	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.9977766891605	0.946
18	29788237	A	T	18	32208274	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999857895247401	0.854
18	29788238	A	C	18	32208275	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.118621725979594	0.302
18	29788238	A	G	18	32208275	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.753299990130677	0.498
18	29788238	A	T	18	32208275	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.835122892779556	0.446
18	29788239	C	A	18	32208276	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.70958562385252E-5	0.024
18	29788239	C	G	18	32208276	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.63980748545216E-4	0.04
18	29788239	C	T	18	32208276	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.81340434358773E-4	0.008
18	29788240	A	C	18	32208277	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.91144161189803E-5	0.018
18	29788240	A	G	18	32208277	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.50648037046102E-5	0.002
18	29788240	A	T	18	32208277	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.41560575190232E-5	0.004
18	29788241	G	A	18	32208278	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.85532827655586E-4	0.004
18	29788241	G	C	18	32208278	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.05111922559973E-4	0.004
18	29788241	G	T	18	32208278	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.60582235660631E-5	0.0
18	29788242	G	A	18	32208279	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.58909195570329E-4	0.006
18	29788242	G	C	18	32208279	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.82456215149026E-4	0.0
18	29788242	G	T	18	32208279	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.17865977792171E-4	0.002
18	29790452	T	A	18	32210489	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.65349460516003E-4	0.078
18	29790452	T	C	18	32210489	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.90489097782461E-5	0.02
18	29790452	T	G	18	32210489	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.29021896914893E-4	0.048
18	29790453	T	A	18	32210490	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0115246912143897	0.21
18	29790453	T	C	18	32210490	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.83720150863071E-4	0.056
18	29790453	T	G	18	32210490	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00139132521350745	0.148
18	29790454	T	A	18	32210491	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0241620965618217	0.244
18	29790454	T	C	18	32210491	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00168046376424506	0.104
18	29790454	T	G	18	32210491	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0073114689891255	0.214
18	29790455	C	A	18	32210492	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00137202358688419	0.046
18	29790455	C	G	18	32210492	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00124559834356448	0.054
18	29790455	C	T	18	32210492	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.23528329681941E-5	0.01
18	29790456	T	A	18	32210493	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00193526543649439	0.068
18	29790456	T	C	18	32210493	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.58810266852841E-5	0.0
18	29790456	T	G	18	32210493	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.00211702631187E-4	0.052
18	29790457	T	A	18	32210494	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.44475761386987E-4	0.024
18	29790457	T	C	18	32210494	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.16294920760403E-5	0.0
18	29790457	T	G	18	32210494	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.12928797929065E-4	0.006
18	29790458	T	A	18	32210495	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.36953263587833E-4	0.106
18	29790458	T	C	18	32210495	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.7326312158031E-5	0.002
18	29790458	T	G	18	32210495	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00135033432170274	0.096
18	29790459	A	C	18	32210496	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.78513064356422E-5	0.01
18	29790459	A	G	18	32210496	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.50045313316527E-4	0.03
18	29790459	A	T	18	32210496	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.91873776760931E-5	0.056
18	29790460	A	C	18	32210497	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.12412580873888E-5	0.022
18	29790460	A	G	18	32210497	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.967216859208349	0.628
18	29790460	A	T	18	32210497	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.88908746331719E-4	0.02
18	29790461	C	A	18	32210498	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.995196642619018	0.708
18	29790461	C	G	18	32210498	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99992818987054	0.94
18	29790461	C	T	18	32210498	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.400905441280232	0.168
18	29790462	A	C	18	32210499	y	y	splicing	MEP1B(NM_005925:exon10:c.920-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.920-2A>C;ENST00000581447:exon10:c.920-2A>C)	.	.	0.999988247793601	0.928
18	29790462	A	G	18	32210499	y	y	splicing	MEP1B(NM_005925:exon10:c.920-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.920-2A>G;ENST00000581447:exon10:c.920-2A>G)	.	.	0.999988247793601	0.928
18	29790462	A	T	18	32210499	y	y	splicing	MEP1B(NM_005925:exon10:c.920-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.920-2A>T;ENST00000581447:exon10:c.920-2A>T)	.	.	0.999988247793601	0.928
18	29790463	G	A	18	32210500	y	y	splicing	MEP1B(NM_005925:exon10:c.920-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.920-1G>A;ENST00000581447:exon10:c.920-1G>A)	.	.	0.999986675681007	0.932
18	29790463	G	C	18	32210500	y	y	splicing	MEP1B(NM_005925:exon10:c.920-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.920-1G>C;ENST00000581447:exon10:c.920-1G>C)	.	.	0.999986675681007	0.932
18	29790463	G	T	18	32210500	y	y	splicing	MEP1B(NM_005925:exon10:c.920-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.920-1G>T;ENST00000581447:exon10:c.920-1G>T)	.	.	0.999986675681007	0.932
18	29790464	G	A	18	32210501	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.G920A:p.G307D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.G920A:p.G307D;ENSG00000141434:ENST00000269202:exon10:c.G920A:p.G307D;	3.23968568199365E-4	0.152
18	29790464	G	C	18	32210501	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.G920C:p.G307A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.G920C:p.G307A;ENSG00000141434:ENST00000269202:exon10:c.G920C:p.G307A;	0.444986157569894	0.496
18	29790464	G	T	18	32210501	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.G920T:p.G307V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.G920T:p.G307V;ENSG00000141434:ENST00000269202:exon10:c.G920T:p.G307V;	0.925578385987572	0.592
18	29790465	T	A	18	32210502	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon10:c.T921A:p.G307G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.T921A:p.G307G;ENSG00000141434:ENST00000269202:exon10:c.T921A:p.G307G;	2.57454989248809E-4	0.014
18	29790465	T	C	18	32210502	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon10:c.T921C:p.G307G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.T921C:p.G307G;ENSG00000141434:ENST00000269202:exon10:c.T921C:p.G307G;	1.72523106683601E-4	0.024
18	29790465	T	G	18	32210502	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon10:c.T921G:p.G307G;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.T921G:p.G307G;ENSG00000141434:ENST00000269202:exon10:c.T921G:p.G307G;	1.77627500844459E-4	0.014
18	29790677	A	C	18	32210714	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.A1133C:p.K378T;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.A1133C:p.K378T;ENSG00000141434:ENST00000269202:exon10:c.A1133C:p.K378T;	0.00199141861941067	0.02
18	29790677	A	G	18	32210714	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.A1133G:p.K378R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.A1133G:p.K378R;ENSG00000141434:ENST00000269202:exon10:c.A1133G:p.K378R;	0.0111401876397551	0.098
18	29790677	A	T	18	32210714	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.A1133T:p.K378I;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.A1133T:p.K378I;ENSG00000141434:ENST00000269202:exon10:c.A1133T:p.K378I;	0.991278891950547	0.652
18	29790678	A	C	18	32210715	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.A1134C:p.K378N;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.A1134C:p.K378N;ENSG00000141434:ENST00000269202:exon10:c.A1134C:p.K378N;	0.937239680877684	0.756
18	29790678	A	G	18	32210715	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon10:c.A1134G:p.K378K;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.A1134G:p.K378K;ENSG00000141434:ENST00000269202:exon10:c.A1134G:p.K378K;	0.998379154889889	0.888
18	29790678	A	T	18	32210715	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.A1134T:p.K378N;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.A1134T:p.K378N;ENSG00000141434:ENST00000269202:exon10:c.A1134T:p.K378N;	0.997399182260635	0.91
18	29790679	G	A	18	32210716	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.G1135A:p.E379K;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.G1135A:p.E379K;ENSG00000141434:ENST00000269202:exon10:c.G1135A:p.E379K;	0.999984842418525	0.996
18	29790679	G	C	18	32210716	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon10:c.G1135C:p.E379Q;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon10:c.G1135C:p.E379Q;ENSG00000141434:ENST00000269202:exon10:c.G1135C:p.E379Q;	0.999997627706868	1.0
18	29790679	G	T	18	32210716	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon10:c.G1135T:p.E379X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000581447:exon10:c.G1135T:p.E379X;ENSG00000141434:ENST00000269202:exon10:c.G1135T:p.E379X;	0.999993456460832	0.998
18	29790680	G	A	18	32210717	y	y	splicing	MEP1B(NM_005925:exon10:c.1135+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.1135+1G>A;ENST00000581447:exon10:c.1135+1G>A)	.	.	0.999938422912956	0.942
18	29790680	G	C	18	32210717	y	y	splicing	MEP1B(NM_005925:exon10:c.1135+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.1135+1G>C;ENST00000581447:exon10:c.1135+1G>C)	.	.	0.999938422912956	0.952
18	29790680	G	T	18	32210717	y	y	splicing	MEP1B(NM_005925:exon10:c.1135+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.1135+1G>T;ENST00000581447:exon10:c.1135+1G>T)	.	.	0.999938422912956	0.942
18	29790681	T	A	18	32210718	y	y	splicing	MEP1B(NM_005925:exon10:c.1135+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.1135+2T>A;ENST00000581447:exon10:c.1135+2T>A)	.	.	0.999966203349492	0.94
18	29790681	T	C	18	32210718	y	y	splicing	MEP1B(NM_005925:exon10:c.1135+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.1135+2T>C;ENST00000581447:exon10:c.1135+2T>C)	.	.	0.979774435221132	0.646
18	29790681	T	G	18	32210718	y	y	splicing	MEP1B(NM_005925:exon10:c.1135+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon10:c.1135+2T>G;ENST00000581447:exon10:c.1135+2T>G)	.	.	0.999966203349492	0.944
18	29790682	A	C	18	32210719	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999954595633806	0.92
18	29790682	A	G	18	32210719	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.99624989090357	0.77
18	29790682	A	T	18	32210719	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999954595633806	0.94
18	29790683	C	A	18	32210720	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.69024865466559E-5	0.036
18	29790683	C	G	18	32210720	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.81552807950392E-5	0.024
18	29790683	C	T	18	32210720	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.06214043577884E-4	0.034
18	29790684	A	C	18	32210721	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.78455447451725E-4	0.002
18	29790684	A	G	18	32210721	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.99354938128415E-4	0.194
18	29790684	A	T	18	32210721	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.6108047610956E-4	0.012
18	29790685	A	C	18	32210722	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.37403174746323E-5	0.04
18	29790685	A	G	18	32210722	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.47117654246468E-5	0.0
18	29790685	A	T	18	32210722	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.43352262245568E-5	0.014
18	29790686	T	A	18	32210723	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.23607275728538E-4	0.002
18	29790686	T	C	18	32210723	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.38824380021817E-4	0.0
18	29790686	T	G	18	32210723	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.22258344427352E-4	0.0
18	29790687	G	A	18	32210724	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.12970949908128E-4	0.0
18	29790687	G	C	18	32210724	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.39593331775617E-5	0.004
18	29790687	G	T	18	32210724	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.472470147799E-5	0.0
18	29793067	A	C	18	32213104	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.72740580737253E-5	0.006
18	29793067	A	G	18	32213104	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.93399465583528E-5	0.004
18	29793067	A	T	18	32213104	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.39511826182286E-5	0.038
18	29793068	C	A	18	32213105	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00125512913606092	0.084
18	29793068	C	G	18	32213105	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999541336273617	0.946
18	29793068	C	T	18	32213105	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.49451852246646E-5	0.004
18	29793069	T	A	18	32213106	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.189545283422013	0.5
18	29793069	T	C	18	32213106	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00111790702049771	0.078
18	29793069	T	G	18	32213106	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.200322094490319	0.466
18	29793070	C	A	18	32213107	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.001167213188613	0.022
18	29793070	C	G	18	32213107	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.02451691431604E-4	0.012
18	29793070	C	T	18	32213107	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.20744275367922E-5	0.0
18	29793071	T	A	18	32213108	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.163662225966403	0.366
18	29793071	T	C	18	32213108	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.3599357613937E-4	0.04
18	29793071	T	G	18	32213108	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0410045250445148	0.346
18	29793072	T	A	18	32213109	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00509278876757837	0.192
18	29793072	T	C	18	32213109	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.54704404243978E-5	0.038
18	29793072	T	G	18	32213109	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0144922594884986	0.208
18	29793073	T	A	18	32213110	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.873718442786301	0.606
18	29793073	T	C	18	32213110	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00140420353387801	0.072
18	29793073	T	G	18	32213110	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.689017577162608	0.478
18	29793074	T	A	18	32213111	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999901240324349	0.938
18	29793074	T	C	18	32213111	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0219245196079993	0.164
18	29793074	T	G	18	32213111	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.948632149464987	0.546
18	29793075	G	A	18	32213112	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.5798776656162E-6	0.004
18	29793075	G	C	18	32213112	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.38457132406069E-4	0.028
18	29793075	G	T	18	32213112	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.5295135543072E-6	0.002
18	29793076	C	A	18	32213113	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.868603825361657	0.67
18	29793076	C	G	18	32213113	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998423468510664	0.826
18	29793076	C	T	18	32213113	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00121834204252736	0.158
18	29793077	A	C	18	32213114	y	y	splicing	MEP1B(NM_005925:exon11:c.1136-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1136-2A>C;ENST00000581447:exon11:c.1136-2A>C)	.	.	0.999982978641546	0.914
18	29793077	A	G	18	32213114	y	y	splicing	MEP1B(NM_005925:exon11:c.1136-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1136-2A>G;ENST00000581447:exon11:c.1136-2A>G)	.	.	0.999982978641546	0.914
18	29793077	A	T	18	32213114	y	y	splicing	MEP1B(NM_005925:exon11:c.1136-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1136-2A>T;ENST00000581447:exon11:c.1136-2A>T)	.	.	0.999979168129443	0.954
18	29793078	G	A	18	32213115	y	y	splicing	MEP1B(NM_005925:exon11:c.1136-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1136-1G>A;ENST00000581447:exon11:c.1136-1G>A)	.	.	0.999950207824055	0.942
18	29793078	G	C	18	32213115	y	y	splicing	MEP1B(NM_005925:exon11:c.1136-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1136-1G>C;ENST00000581447:exon11:c.1136-1G>C)	.	.	0.999967518326798	0.94
18	29793078	G	T	18	32213115	y	y	splicing	MEP1B(NM_005925:exon11:c.1136-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1136-1G>T;ENST00000581447:exon11:c.1136-1G>T)	.	.	0.999967518326798	0.94
18	29793079	A	C	18	32213116	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.A1136C:p.E379A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.A1136C:p.E379A;ENSG00000141434:ENST00000269202:exon11:c.A1136C:p.E379A;	2.91866117137158E-4	0.114
18	29793079	A	G	18	32213116	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.A1136G:p.E379G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.A1136G:p.E379G;ENSG00000141434:ENST00000269202:exon11:c.A1136G:p.E379G;	9.49194068252481E-5	0.18
18	29793079	A	T	18	32213116	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.A1136T:p.E379V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.A1136T:p.E379V;ENSG00000141434:ENST00000269202:exon11:c.A1136T:p.E379V;	0.00656853191311076	0.118
18	29793080	A	C	18	32213117	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.A1137C:p.E379D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.A1137C:p.E379D;ENSG00000141434:ENST00000269202:exon11:c.A1137C:p.E379D;	5.39765184358128E-5	0.0
18	29793080	A	G	18	32213117	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon11:c.A1137G:p.E379E;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.A1137G:p.E379E;ENSG00000141434:ENST00000269202:exon11:c.A1137G:p.E379E;	9.85167635387787E-5	0.172
18	29793080	A	T	18	32213117	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.A1137T:p.E379D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.A1137T:p.E379D;ENSG00000141434:ENST00000269202:exon11:c.A1137T:p.E379D;	9.59053884031672E-6	0.0
18	29793520	C	A	18	32213557	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.C1577A:p.T526N;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.C1577A:p.T526N;ENSG00000141434:ENST00000269202:exon11:c.C1577A:p.T526N;	1.61443710732602E-4	0.092
18	29793520	C	G	18	32213557	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.C1577G:p.T526S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.C1577G:p.T526S;ENSG00000141434:ENST00000269202:exon11:c.C1577G:p.T526S;	2.567161307104E-4	0.178
18	29793520	C	T	18	32213557	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.C1577T:p.T526I;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.C1577T:p.T526I;ENSG00000141434:ENST00000269202:exon11:c.C1577T:p.T526I;	0.129414397739119	0.27
18	29793521	C	A	18	32213558	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon11:c.C1578A:p.T526T;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.C1578A:p.T526T;ENSG00000141434:ENST00000269202:exon11:c.C1578A:p.T526T;	2.71204137085939E-5	0.064
18	29793521	C	G	18	32213558	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon11:c.C1578G:p.T526T;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.C1578G:p.T526T;ENSG00000141434:ENST00000269202:exon11:c.C1578G:p.T526T;	0.00145054288293805	0.22
18	29793521	C	T	18	32213558	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon11:c.C1578T:p.T526T;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.C1578T:p.T526T;ENSG00000141434:ENST00000269202:exon11:c.C1578T:p.T526T;	7.24929344935711E-5	0.046
18	29793522	G	A	18	32213559	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.G1579A:p.D527N;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.G1579A:p.D527N;ENSG00000141434:ENST00000269202:exon11:c.G1579A:p.D527N;	0.999834567823113	0.974
18	29793522	G	C	18	32213559	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.G1579C:p.D527H;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.G1579C:p.D527H;ENSG00000141434:ENST00000269202:exon11:c.G1579C:p.D527H;	0.999964448980953	0.978
18	29793522	G	T	18	32213559	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon11:c.G1579T:p.D527Y;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon11:c.G1579T:p.D527Y;ENSG00000141434:ENST00000269202:exon11:c.G1579T:p.D527Y;	0.999916956132346	0.988
18	29793523	G	A	18	32213560	y	y	splicing	MEP1B(NM_005925:exon11:c.1579+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1579+1G>A;ENST00000581447:exon11:c.1579+1G>A)	.	.	0.99993872479901	0.916
18	29793523	G	C	18	32213560	y	y	splicing	MEP1B(NM_005925:exon11:c.1579+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1579+1G>C;ENST00000581447:exon11:c.1579+1G>C)	.	.	0.99993872479901	0.926
18	29793523	G	T	18	32213560	y	y	splicing	MEP1B(NM_005925:exon11:c.1579+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1579+1G>T;ENST00000581447:exon11:c.1579+1G>T)	.	.	0.99993872479901	0.918
18	29793524	T	A	18	32213561	y	y	splicing	MEP1B(NM_005925:exon11:c.1579+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1579+2T>A;ENST00000581447:exon11:c.1579+2T>A)	.	.	0.999960616901561	0.928
18	29793524	T	C	18	32213561	y	y	splicing	MEP1B(NM_005925:exon11:c.1579+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1579+2T>C;ENST00000581447:exon11:c.1579+2T>C)	.	.	0.999652540311252	0.902
18	29793524	T	G	18	32213561	y	y	splicing	MEP1B(NM_005925:exon11:c.1579+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon11:c.1579+2T>G;ENST00000581447:exon11:c.1579+2T>G)	.	.	0.999960616901561	0.942
18	29793525	T	A	18	32213562	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00151410389605962	0.102
18	29793525	T	C	18	32213562	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00660858011741512	0.166
18	29793525	T	G	18	32213562	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00252415592526349	0.128
18	29793526	C	A	18	32213563	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.15719084084923E-5	0.04
18	29793526	C	G	18	32213563	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.51205512252779E-4	0.068
18	29793526	C	T	18	32213563	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.43152920957297E-4	0.048
18	29793527	G	A	18	32213564	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999962398271737	0.998
18	29793527	G	C	18	32213564	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999987099524305	0.982
18	29793527	G	T	18	32213564	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999982017899587	0.992
18	29793528	T	A	18	32213565	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.928540986702125	0.678
18	29793528	T	C	18	32213565	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.988932152535336	0.848
18	29793528	T	G	18	32213565	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.886831103672437	0.756
18	29793529	A	C	18	32213566	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.80581834444926E-4	0.056
18	29793529	A	G	18	32213566	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.78243579644099E-4	0.06
18	29793529	A	T	18	32213566	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.39594069680635E-4	0.192
18	29793530	A	C	18	32213567	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.9174147392929E-5	0.026
18	29793530	A	G	18	32213567	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.68628187552223E-5	0.028
18	29793530	A	T	18	32213567	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.12390346626315E-5	0.034
18	29795033	T	A	18	32215070	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999322970560236	0.918
18	29795033	T	C	18	32215070	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.866783820227776	0.586
18	29795033	T	G	18	32215070	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999961287897426	0.96
18	29795034	T	A	18	32215071	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999991247564773	0.978
18	29795034	T	C	18	32215071	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998059677979651	0.65
18	29795034	T	G	18	32215071	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999421395955569	0.93
18	29795035	G	A	18	32215072	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00173428183085501	0.164
18	29795035	G	C	18	32215072	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.56874063473619E-4	0.176
18	29795035	G	T	18	32215072	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.56874063473619E-4	0.17
18	29795036	C	A	18	32215073	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0853517260599801	0.248
18	29795036	C	G	18	32215073	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0905745674235088	0.234
18	29795036	C	T	18	32215073	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0502236530435002	0.36
18	29795037	T	A	18	32215074	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0905665312513504	0.308
18	29795037	T	C	18	32215074	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.60145038499869E-4	0.006
18	29795037	T	G	18	32215074	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.113768153470845	0.244
18	29795038	T	A	18	32215075	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.848462287658579	0.73
18	29795038	T	C	18	32215075	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.49883026860834E-4	0.034
18	29795038	T	G	18	32215075	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.451004990841303	0.426
18	29795039	T	A	18	32215076	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.995304946185708	0.868
18	29795039	T	C	18	32215076	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.417996791483163	0.552
18	29795039	T	G	18	32215076	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.995666148968698	0.898
18	29795040	T	A	18	32215077	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.996642780920048	0.848
18	29795040	T	C	18	32215077	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.072366459786941	0.244
18	29795040	T	G	18	32215077	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.997447608690488	0.852
18	29795041	T	A	18	32215078	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.30329391860286E-4	0.01
18	29795041	T	C	18	32215078	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.71297157527089E-4	0.064
18	29795041	T	G	18	32215078	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.59712519915267E-4	0.03
18	29795042	C	A	18	32215079	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.995370686708128	0.906
18	29795042	C	G	18	32215079	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999851634750554	0.98
18	29795042	C	T	18	32215079	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.394216419849965	0.238
18	29795043	A	C	18	32215080	y	y	splicing	MEP1B(NM_005925:exon12:c.1580-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1580-2A>C;ENST00000581447:exon12:c.1580-2A>C)	.	.	0.999988247793601	0.936
18	29795043	A	G	18	32215080	y	y	splicing	MEP1B(NM_005925:exon12:c.1580-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1580-2A>G;ENST00000581447:exon12:c.1580-2A>G)	.	.	0.999988247793601	0.936
18	29795043	A	T	18	32215080	y	y	splicing	MEP1B(NM_005925:exon12:c.1580-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1580-2A>T;ENST00000581447:exon12:c.1580-2A>T)	.	.	0.999988247793601	0.936
18	29795044	G	A	18	32215081	y	y	splicing	MEP1B(NM_005925:exon12:c.1580-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1580-1G>A;ENST00000581447:exon12:c.1580-1G>A)	.	.	0.999990361384395	0.944
18	29795044	G	C	18	32215081	y	y	splicing	MEP1B(NM_005925:exon12:c.1580-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1580-1G>C;ENST00000581447:exon12:c.1580-1G>C)	.	.	0.999990361384395	0.944
18	29795044	G	T	18	32215081	y	y	splicing	MEP1B(NM_005925:exon12:c.1580-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1580-1G>T;ENST00000581447:exon12:c.1580-1G>T)	.	.	0.999990361384395	0.944
18	29795045	A	C	18	32215082	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.A1580C:p.D527A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1580C:p.D527A;ENSG00000141434:ENST00000269202:exon12:c.A1580C:p.D527A;	5.38249742990553E-4	0.112
18	29795045	A	G	18	32215082	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.A1580G:p.D527G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1580G:p.D527G;ENSG00000141434:ENST00000269202:exon12:c.A1580G:p.D527G;	8.58900704350392E-5	0.0
18	29795045	A	T	18	32215082	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.A1580T:p.D527V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1580T:p.D527V;ENSG00000141434:ENST00000269202:exon12:c.A1580T:p.D527V;	0.00289380127443009	0.17
18	29795046	T	A	18	32215083	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.T1581A:p.D527E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.T1581A:p.D527E;ENSG00000141434:ENST00000269202:exon12:c.T1581A:p.D527E;	9.81525388867413E-4	0.07
18	29795046	T	C	18	32215083	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon12:c.T1581C:p.D527D;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.T1581C:p.D527D;ENSG00000141434:ENST00000269202:exon12:c.T1581C:p.D527D;	0.0117479698715998	0.196
18	29795046	T	G	18	32215083	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.T1581G:p.D527E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.T1581G:p.D527E;ENSG00000141434:ENST00000269202:exon12:c.T1581G:p.D527E;	1.6632130511623E-4	0.058
18	29795222	A	C	18	32215259	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.A1757C:p.E586A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1757C:p.E586A;ENSG00000141434:ENST00000269202:exon12:c.A1757C:p.E586A;	0.827037196448626	0.694
18	29795222	A	G	18	32215259	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.A1757G:p.E586G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1757G:p.E586G;ENSG00000141434:ENST00000269202:exon12:c.A1757G:p.E586G;	0.499711960663189	0.506
18	29795222	A	T	18	32215259	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.A1757T:p.E586V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1757T:p.E586V;ENSG00000141434:ENST00000269202:exon12:c.A1757T:p.E586V;	0.961600764002574	0.728
18	29795223	A	C	18	32215260	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.A1758C:p.E586D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1758C:p.E586D;ENSG00000141434:ENST00000269202:exon12:c.A1758C:p.E586D;	0.27041618073711	0.636
18	29795223	A	G	18	32215260	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon12:c.A1758G:p.E586E;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1758G:p.E586E;ENSG00000141434:ENST00000269202:exon12:c.A1758G:p.E586E;	0.289010406596752	0.494
18	29795223	A	T	18	32215260	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.A1758T:p.E586D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.A1758T:p.E586D;ENSG00000141434:ENST00000269202:exon12:c.A1758T:p.E586D;	0.908088685043188	0.722
18	29795224	G	A	18	32215261	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.G1759A:p.D587N;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.G1759A:p.D587N;ENSG00000141434:ENST00000269202:exon12:c.G1759A:p.D587N;	0.999982586052951	0.982
18	29795224	G	C	18	32215261	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.G1759C:p.D587H;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.G1759C:p.D587H;ENSG00000141434:ENST00000269202:exon12:c.G1759C:p.D587H;	0.999987842986846	0.99
18	29795224	G	T	18	32215261	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon12:c.G1759T:p.D587Y;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon12:c.G1759T:p.D587Y;ENSG00000141434:ENST00000269202:exon12:c.G1759T:p.D587Y;	0.999985007705141	0.994
18	29795225	G	A	18	32215262	y	y	splicing	MEP1B(NM_005925:exon12:c.1759+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1759+1G>A;ENST00000581447:exon12:c.1759+1G>A)	.	.	0.999990361384395	0.938
18	29795225	G	C	18	32215262	y	y	splicing	MEP1B(NM_005925:exon12:c.1759+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1759+1G>C;ENST00000581447:exon12:c.1759+1G>C)	.	.	0.999990361384395	0.938
18	29795225	G	T	18	32215262	y	y	splicing	MEP1B(NM_005925:exon12:c.1759+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1759+1G>T;ENST00000581447:exon12:c.1759+1G>T)	.	.	0.999990361384395	0.938
18	29795226	T	A	18	32215263	y	y	splicing	MEP1B(NM_005925:exon12:c.1759+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1759+2T>A;ENST00000581447:exon12:c.1759+2T>A)	.	.	0.999988247793601	0.93
18	29795226	T	C	18	32215263	y	y	splicing	MEP1B(NM_005925:exon12:c.1759+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1759+2T>C;ENST00000581447:exon12:c.1759+2T>C)	.	.	0.994877988051647	0.716
18	29795226	T	G	18	32215263	y	y	splicing	MEP1B(NM_005925:exon12:c.1759+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon12:c.1759+2T>G;ENST00000581447:exon12:c.1759+2T>G)	.	.	0.999988247793601	0.93
18	29795227	A	C	18	32215264	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998011815899273	0.888
18	29795227	A	G	18	32215264	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.995066012961136	0.91
18	29795227	A	T	18	32215264	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999114850460841	0.87
18	29795228	T	A	18	32215265	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.16454926238082E-5	0.02
18	29795228	T	C	18	32215265	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00108747410647124	0.024
18	29795228	T	G	18	32215265	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.88029851693112E-5	0.002
18	29795229	G	A	18	32215266	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.995050704201521	0.67
18	29795229	G	C	18	32215266	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.987545984514753	0.698
18	29795229	G	T	18	32215266	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.992075803800965	0.714
18	29795230	T	A	18	32215267	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0311051277321762	0.316
18	29795230	T	C	18	32215267	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0502525346641282	0.348
18	29795230	T	G	18	32215267	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0205080971684411	0.294
18	29795231	C	A	18	32215268	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.33950268484782E-4	0.01
18	29795231	C	G	18	32215268	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.24268202054074E-4	0.004
18	29795231	C	T	18	32215268	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.83452368815774E-4	0.006
18	29795232	A	C	18	32215269	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.13070713883436E-5	0.0
18	29795232	A	G	18	32215269	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.24200242815801E-5	0.0
18	29795232	A	T	18	32215269	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.02728736892418E-4	0.002
18	29796942	C	A	18	32216979	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.81349714556924E-4	0.166
18	29796942	C	G	18	32216979	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00275728583871853	0.202
18	29796942	C	T	18	32216979	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.89044941332627E-5	0.0
18	29796943	C	A	18	32216980	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00100926498806053	0.062
18	29796943	C	G	18	32216980	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.06503484718097E-4	0.048
18	29796943	C	T	18	32216980	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.02711033796383E-5	0.008
18	29796944	A	C	18	32216981	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.20540403759001E-4	0.02
18	29796944	A	G	18	32216981	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.7786545115232E-4	0.02
18	29796944	A	T	18	32216981	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.62669131530711E-5	0.012
18	29796945	T	A	18	32216982	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00469093158832067	0.276
18	29796945	T	C	18	32216982	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.19503342520313E-5	0.012
18	29796945	T	G	18	32216982	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999965316566104	0.986
18	29796946	C	A	18	32216983	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.62388870169747E-4	0.076
18	29796946	C	G	18	32216983	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.55546523537957E-4	0.042
18	29796946	C	T	18	32216983	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.63009124930821E-5	0.002
18	29796947	T	A	18	32216984	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.06294458758158E-4	0.046
18	29796947	T	C	18	32216984	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.00838816605335E-5	0.016
18	29796947	T	G	18	32216984	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.33654168819265E-4	0.036
18	29796948	T	A	18	32216985	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00128938461965803	0.226
18	29796948	T	C	18	32216985	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.3613511336618E-5	0.062
18	29796948	T	G	18	32216985	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00279701600218935	0.256
18	29796949	C	A	18	32216986	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00107148171847474	0.1
18	29796949	C	G	18	32216986	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00124073080446333	0.122
18	29796949	C	T	18	32216986	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.82115603612096E-5	0.006
18	29796950	C	A	18	32216987	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.055505886897E-5	0.006
18	29796950	C	G	18	32216987	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.51955555872833E-4	0.042
18	29796950	C	T	18	32216987	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.07498656017814E-4	0.004
18	29796951	T	A	18	32216988	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.967466148231769	0.626
18	29796951	T	C	18	32216988	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.99589936094408E-5	0.082
18	29796951	T	G	18	32216988	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999131621224056	0.888
18	29796952	A	C	18	32216989	y	y	splicing	MEP1B(NM_005925:exon13:c.1760-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1760-2A>C;ENST00000581447:exon13:c.1760-2A>C)	.	.	0.999988247793601	0.93
18	29796952	A	G	18	32216989	y	y	splicing	MEP1B(NM_005925:exon13:c.1760-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1760-2A>G;ENST00000581447:exon13:c.1760-2A>G)	.	.	0.999988247793601	0.93
18	29796952	A	T	18	32216989	y	y	splicing	MEP1B(NM_005925:exon13:c.1760-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1760-2A>T;ENST00000581447:exon13:c.1760-2A>T)	.	.	0.999988247793601	0.93
18	29796953	G	A	18	32216990	y	y	splicing	MEP1B(NM_005925:exon13:c.1760-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1760-1G>A;ENST00000581447:exon13:c.1760-1G>A)	.	.	0.999990361384395	0.934
18	29796953	G	C	18	32216990	y	y	splicing	MEP1B(NM_005925:exon13:c.1760-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1760-1G>C;ENST00000581447:exon13:c.1760-1G>C)	.	.	0.999990361384395	0.926
18	29796953	G	T	18	32216990	y	y	splicing	MEP1B(NM_005925:exon13:c.1760-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1760-1G>T;ENST00000581447:exon13:c.1760-1G>T)	.	.	0.999990361384395	0.934
18	29796954	A	C	18	32216991	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.A1760C:p.D587A;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.A1760C:p.D587A;ENSG00000141434:ENST00000269202:exon13:c.A1760C:p.D587A;	0.91821475831237	0.662
18	29796954	A	G	18	32216991	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.A1760G:p.D587G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.A1760G:p.D587G;ENSG00000141434:ENST00000269202:exon13:c.A1760G:p.D587G;	0.713248387380696	0.488
18	29796954	A	T	18	32216991	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.A1760T:p.D587V;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.A1760T:p.D587V;ENSG00000141434:ENST00000269202:exon13:c.A1760T:p.D587V;	0.916505961705125	0.582
18	29796955	C	A	18	32216992	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.C1761A:p.D587E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.C1761A:p.D587E;ENSG00000141434:ENST00000269202:exon13:c.C1761A:p.D587E;	0.0051191497103612	0.17
18	29796955	C	G	18	32216992	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.C1761G:p.D587E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.C1761G:p.D587E;ENSG00000141434:ENST00000269202:exon13:c.C1761G:p.D587E;	0.0209008188906186	0.218
18	29796955	C	T	18	32216992	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon13:c.C1761T:p.D587D;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.C1761T:p.D587D;ENSG00000141434:ENST00000269202:exon13:c.C1761T:p.D587D;	2.70614070279614E-4	0.002
18	29797078	C	A	18	32217115	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon13:c.C1884A:p.C628X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000581447:exon13:c.C1884A:p.C628X;ENSG00000141434:ENST00000269202:exon13:c.C1884A:p.C628X;	0.965012257316836	0.826
18	29797078	C	G	18	32217115	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.C1884G:p.C628W;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.C1884G:p.C628W;ENSG00000141434:ENST00000269202:exon13:c.C1884G:p.C628W;	0.928491686326502	0.588
18	29797078	C	T	18	32217115	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon13:c.C1884T:p.C628C;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.C1884T:p.C628C;ENSG00000141434:ENST00000269202:exon13:c.C1884T:p.C628C;	0.58319364505271	0.376
18	29797079	A	C	18	32217116	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon13:c.A1885C:p.R629R;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.A1885C:p.R629R;ENSG00000141434:ENST00000269202:exon13:c.A1885C:p.R629R;	0.269990586846292	0.494
18	29797079	A	G	18	32217116	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.A1885G:p.R629G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.A1885G:p.R629G;ENSG00000141434:ENST00000269202:exon13:c.A1885G:p.R629G;	0.354221323148412	0.618
18	29797079	A	T	18	32217116	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.A1885T:p.R629W;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.A1885T:p.R629W;ENSG00000141434:ENST00000269202:exon13:c.A1885T:p.R629W;	0.586991490885687	0.512
18	29797080	G	A	18	32217117	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.G1886A:p.R629K;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.G1886A:p.R629K;ENSG00000141434:ENST00000269202:exon13:c.G1886A:p.R629K;	0.997121729373753	0.966
18	29797080	G	C	18	32217117	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.G1886C:p.R629T;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.G1886C:p.R629T;ENSG00000141434:ENST00000269202:exon13:c.G1886C:p.R629T;	0.999748479272244	0.96
18	29797080	G	T	18	32217117	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon13:c.G1886T:p.R629M;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon13:c.G1886T:p.R629M;ENSG00000141434:ENST00000269202:exon13:c.G1886T:p.R629M;	0.999669072804523	0.96
18	29797081	G	A	18	32217118	y	y	splicing	MEP1B(NM_005925:exon13:c.1886+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1886+1G>A;ENST00000581447:exon13:c.1886+1G>A)	.	.	0.999990361384395	0.936
18	29797081	G	C	18	32217118	y	y	splicing	MEP1B(NM_005925:exon13:c.1886+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1886+1G>C;ENST00000581447:exon13:c.1886+1G>C)	.	.	0.999990361384395	0.936
18	29797081	G	T	18	32217118	y	y	splicing	MEP1B(NM_005925:exon13:c.1886+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1886+1G>T;ENST00000581447:exon13:c.1886+1G>T)	.	.	0.999990361384395	0.936
18	29797082	T	A	18	32217119	y	y	splicing	MEP1B(NM_005925:exon13:c.1886+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1886+2T>A;ENST00000581447:exon13:c.1886+2T>A)	.	.	0.999988247793601	0.926
18	29797082	T	C	18	32217119	y	y	splicing	MEP1B(NM_005925:exon13:c.1886+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1886+2T>C;ENST00000581447:exon13:c.1886+2T>C)	.	.	0.994063255842726	0.704
18	29797082	T	G	18	32217119	y	y	splicing	MEP1B(NM_005925:exon13:c.1886+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon13:c.1886+2T>G;ENST00000581447:exon13:c.1886+2T>G)	.	.	0.999988247793601	0.926
18	29797083	A	C	18	32217120	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.754874316408496	0.532
18	29797083	A	G	18	32217120	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.65820085694807E-4	0.006
18	29797083	A	T	18	32217120	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.715103307768751	0.478
18	29797084	A	C	18	32217121	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0877703922781691	0.434
18	29797084	A	G	18	32217121	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.179268005039881	0.438
18	29797084	A	T	18	32217121	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0797370586412419	0.398
18	29797085	G	A	18	32217122	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.780977324978404	0.506
18	29797085	G	C	18	32217122	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.450661634995364	0.506
18	29797085	G	T	18	32217122	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.606889842462694	0.464
18	29797086	G	A	18	32217123	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.3986430210102E-5	0.0
18	29797086	G	C	18	32217123	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.28735614519552E-5	0.012
18	29797086	G	T	18	32217123	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.27548350319013E-5	0.002
18	29797087	A	C	18	32217124	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.34905935903703E-5	0.0
18	29797087	A	G	18	32217124	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.34905935903703E-5	0.0
18	29797087	A	T	18	32217124	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.61124831441016E-5	0.0
18	29797088	T	A	18	32217125	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.01330567930374E-5	0.0
18	29797088	T	C	18	32217125	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.53559051179784E-5	0.0
18	29797088	T	G	18	32217125	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.27154439443876E-5	0.0
18	29797712	C	A	18	32217749	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.90454569899842E-4	0.018
18	29797712	C	G	18	32217749	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.41474655630993E-4	0.03
18	29797712	C	T	18	32217749	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.92179633376755E-5	0.0
18	29797713	T	A	18	32217750	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.849231673893587	0.396
18	29797713	T	C	18	32217750	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00136974996348524	0.09
18	29797713	T	G	18	32217750	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.760821967882719	0.402
18	29797714	C	A	18	32217751	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00405118632252845	0.032
18	29797714	C	G	18	32217751	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00158250515021994	0.03
18	29797714	C	T	18	32217751	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.89083215600469E-5	0.004
18	29797715	A	C	18	32217752	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.46690087848706E-5	0.01
18	29797715	A	G	18	32217752	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.4749772823208E-5	0.014
18	29797715	A	T	18	32217752	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.55671353902905E-5	0.044
18	29797716	A	C	18	32217753	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.52984219247393E-5	0.004
18	29797716	A	G	18	32217753	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.992242830761645	0.924
18	29797716	A	T	18	32217753	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.16505532438557E-5	0.008
18	29797717	C	A	18	32217754	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.09123558114922E-5	0.042
18	29797717	C	G	18	32217754	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.989793753438696	0.546
18	29797717	C	T	18	32217754	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.59263380380195E-5	0.0
18	29797718	A	C	18	32217755	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.97769277305195E-5	0.0
18	29797718	A	G	18	32217755	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.13265907200378E-5	0.0
18	29797718	A	T	18	32217755	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.13397520870883E-5	0.0
18	29797719	T	A	18	32217756	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999038586882962	0.832
18	29797719	T	C	18	32217756	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00126937715793884	0.114
18	29797719	T	G	18	32217756	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999859455882331	0.884
18	29797720	G	A	18	32217757	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.68844007272321E-4	0.004
18	29797720	G	C	18	32217757	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.08075213674519E-4	0.0
18	29797720	G	T	18	32217757	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.19171364009267E-4	0.0
18	29797721	C	A	18	32217758	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.769731702272356	0.548
18	29797721	C	G	18	32217758	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.994884212191405	0.76
18	29797721	C	T	18	32217758	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.97869344910072E-4	0.124
18	29797722	A	C	18	32217759	y	y	splicing	MEP1B(NM_005925:exon14:c.1887-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.1887-2A>C;ENST00000581447:exon14:c.1887-2A>C)	.	.	0.999992622308146	0.908
18	29797722	A	G	18	32217759	y	y	splicing	MEP1B(NM_005925:exon14:c.1887-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.1887-2A>G;ENST00000581447:exon14:c.1887-2A>G)	.	.	0.999992622308146	0.908
18	29797722	A	T	18	32217759	y	y	splicing	MEP1B(NM_005925:exon14:c.1887-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.1887-2A>T;ENST00000581447:exon14:c.1887-2A>T)	.	.	0.999990655705579	0.948
18	29797723	G	A	18	32217760	y	y	splicing	MEP1B(NM_005925:exon14:c.1887-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.1887-1G>A;ENST00000581447:exon14:c.1887-1G>A)	.	.	0.999972413313263	0.942
18	29797723	G	C	18	32217760	y	y	splicing	MEP1B(NM_005925:exon14:c.1887-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.1887-1G>C;ENST00000581447:exon14:c.1887-1G>C)	.	.	0.999971451041086	0.918
18	29797723	G	T	18	32217760	y	y	splicing	MEP1B(NM_005925:exon14:c.1887-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.1887-1G>T;ENST00000581447:exon14:c.1887-1G>T)	.	.	0.999972413313263	0.942
18	29797724	G	A	18	32217761	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon14:c.G1887A:p.R629R;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.G1887A:p.R629R;ENSG00000141434:ENST00000269202:exon14:c.G1887A:p.R629R;	0.0351341695813275	0.184
18	29797724	G	C	18	32217761	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.G1887C:p.R629S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.G1887C:p.R629S;ENSG00000141434:ENST00000269202:exon14:c.G1887C:p.R629S;	0.12774870189512	0.636
18	29797724	G	T	18	32217761	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.G1887T:p.R629S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.G1887T:p.R629S;ENSG00000141434:ENST00000269202:exon14:c.G1887T:p.R629S;	0.980880939232453	0.846
18	29797725	T	A	18	32217762	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.T1888A:p.C630S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.T1888A:p.C630S;ENSG00000141434:ENST00000269202:exon14:c.T1888A:p.C630S;	0.335451929527449	0.398
18	29797725	T	C	18	32217762	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.T1888C:p.C630R;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.T1888C:p.C630R;ENSG00000141434:ENST00000269202:exon14:c.T1888C:p.C630R;	0.380431103175895	0.392
18	29797725	T	G	18	32217762	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.T1888G:p.C630G;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.T1888G:p.C630G;ENSG00000141434:ENST00000269202:exon14:c.T1888G:p.C630G;	0.43880310735441	0.378
18	29797926	A	C	18	32217963	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.A2089C:p.N697H;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.A2089C:p.N697H;ENSG00000141434:ENST00000269202:exon14:c.A2089C:p.N697H;	0.00210684097925126	0.028
18	29797926	A	G	18	32217963	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.A2089G:p.N697D;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.A2089G:p.N697D;ENSG00000141434:ENST00000269202:exon14:c.A2089G:p.N697D;	0.00388707742250163	0.084
18	29797926	A	T	18	32217963	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.A2089T:p.N697Y;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.A2089T:p.N697Y;ENSG00000141434:ENST00000269202:exon14:c.A2089T:p.N697Y;	0.237260511149562	0.368
18	29797927	A	C	18	32217964	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.A2090C:p.N697T;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.A2090C:p.N697T;ENSG00000141434:ENST00000269202:exon14:c.A2090C:p.N697T;	0.284382157486301	0.594
18	29797927	A	G	18	32217964	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.A2090G:p.N697S;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.A2090G:p.N697S;ENSG00000141434:ENST00000269202:exon14:c.A2090G:p.N697S;	0.233507401458054	0.334
18	29797927	A	T	18	32217964	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.A2090T:p.N697I;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.A2090T:p.N697I;ENSG00000141434:ENST00000269202:exon14:c.A2090T:p.N697I;	0.442918979715617	0.574
18	29797928	T	A	18	32217965	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.T2091A:p.N697K;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.T2091A:p.N697K;ENSG00000141434:ENST00000269202:exon14:c.T2091A:p.N697K;	0.00211257656568471	0.032
18	29797928	T	C	18	32217965	y	y	exonic	MEP1B	synonymous SNV	MEP1B:NM_005925:exon14:c.T2091C:p.N697N;	exonic	ENSG00000141434	synonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.T2091C:p.N697N;ENSG00000141434:ENST00000269202:exon14:c.T2091C:p.N697N;	0.00151944172159985	0.094
18	29797928	T	G	18	32217965	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon14:c.T2091G:p.N697K;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000581447:exon14:c.T2091G:p.N697K;ENSG00000141434:ENST00000269202:exon14:c.T2091G:p.N697K;	0.00325925055304471	0.084
18	29797929	G	A	18	32217966	y	y	splicing	MEP1B(NM_005925:exon14:c.2091+1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.2091+1G>A;ENST00000581447:exon14:c.2091+1G>A)	.	.	0.99994568797423	0.94
18	29797929	G	C	18	32217966	y	y	splicing	MEP1B(NM_005925:exon14:c.2091+1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.2091+1G>C;ENST00000581447:exon14:c.2091+1G>C)	.	.	0.999946188727699	0.94
18	29797929	G	T	18	32217966	y	y	splicing	MEP1B(NM_005925:exon14:c.2091+1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.2091+1G>T;ENST00000581447:exon14:c.2091+1G>T)	.	.	0.999946188727699	0.94
18	29797930	T	A	18	32217967	y	y	splicing	MEP1B(NM_005925:exon14:c.2091+2T>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.2091+2T>A;ENST00000581447:exon14:c.2091+2T>A)	.	.	0.999965414246739	0.946
18	29797930	T	C	18	32217967	y	y	splicing	MEP1B(NM_005925:exon14:c.2091+2T>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.2091+2T>C;ENST00000581447:exon14:c.2091+2T>C)	.	.	0.966455414176049	0.618
18	29797930	T	G	18	32217967	y	y	splicing	MEP1B(NM_005925:exon14:c.2091+2T>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon14:c.2091+2T>G;ENST00000581447:exon14:c.2091+2T>G)	.	.	0.999965414246739	0.942
18	29797931	A	C	18	32217968	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999712467501939	0.864
18	29797931	A	G	18	32217968	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00900450922808437	0.118
18	29797931	A	T	18	32217968	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999483377545116	0.768
18	29797932	A	C	18	32217969	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.915632397050895	0.56
18	29797932	A	G	18	32217969	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.976020690095514	0.772
18	29797932	A	T	18	32217969	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.970801172757389	0.712
18	29797933	G	A	18	32217970	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999471500881332	0.912
18	29797933	G	C	18	32217970	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.998227170018222	0.782
18	29797933	G	T	18	32217970	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.999936234855107	0.928
18	29797934	T	A	18	32217971	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.547354840984222	0.548
18	29797934	T	C	18	32217971	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.818137431117123	0.556
18	29797934	T	G	18	32217971	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.312034733763729	0.464
18	29797935	T	A	18	32217972	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.60554742403257E-4	0.002
18	29797935	T	C	18	32217972	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.54291542054858E-4	0.006
18	29797935	T	G	18	32217972	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.60554742403257E-4	0.008
18	29797936	G	A	18	32217973	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	2.5092452581904E-5	0.002
18	29797936	G	C	18	32217973	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.87945186568028E-6	0.002
18	29797936	G	T	18	32217973	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.87945186568028E-6	0.002
18	29800182	T	A	18	32220219	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.243612396362104	0.394
18	29800182	T	C	18	32220219	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0118501020444172	0.064
18	29800182	T	G	18	32220219	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0400668794481936	0.326
18	29800183	T	A	18	32220220	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0133666966274313	0.338
18	29800183	T	C	18	32220220	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0019181447393442	0.048
18	29800183	T	G	18	32220220	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0149309627474074	0.252
18	29800184	C	A	18	32220221	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0227155804905344	0.148
18	29800184	C	G	18	32220221	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0117508236106503	0.146
18	29800184	C	T	18	32220221	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	6.82659665914723E-4	0.024
18	29800185	C	A	18	32220222	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0019408635845692	0.076
18	29800185	C	G	18	32220222	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.20860869770724E-4	0.046
18	29800185	C	T	18	32220222	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	8.37616820625535E-5	0.016
18	29800186	C	A	18	32220223	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.68715982786131E-4	0.002
18	29800186	C	G	18	32220223	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.32035757481154E-4	0.01
18	29800186	C	T	18	32220223	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	4.37647436771528E-5	0.004
18	29800187	C	A	18	32220224	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	3.500197076508E-4	0.042
18	29800187	C	G	18	32220224	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.87636118257374E-4	0.026
18	29800187	C	T	18	32220224	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.42264248951117E-5	0.004
18	29800188	T	A	18	32220225	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00358476807023317	0.102
18	29800188	T	C	18	32220225	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.29882134444608E-4	0.014
18	29800188	T	G	18	32220225	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.00426677201543454	0.13
18	29800189	T	A	18	32220226	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.228846202843771	0.364
18	29800189	T	C	18	32220226	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0015926517627336	0.118
18	29800189	T	G	18	32220226	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.208256106830297	0.372
18	29800190	T	A	18	32220227	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	7.79386101708613E-4	0.012
18	29800190	T	C	18	32220227	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	5.91852802983052E-4	0.012
18	29800190	T	G	18	32220227	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	9.89453967857567E-4	0.012
18	29800191	T	A	18	32220228	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.0032190327490901	0.136
18	29800191	T	C	18	32220228	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	1.11689796532133E-4	0.014
18	29800191	T	G	18	32220228	y	y	intronic	MEP1B	.	.	intronic	ENSG00000141434;ENSG00000141441	.	.	0.605649352967431	0.658
18	29800192	A	C	18	32220229	y	y	splicing	MEP1B(NM_005925:exon15:c.2092-2A>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon15:c.2092-2A>C)	.	.	0.999989378869813	0.752
18	29800192	A	G	18	32220229	y	y	splicing	MEP1B(NM_005925:exon15:c.2092-2A>G)	.	.	splicing	ENSG00000141434(ENST00000269202:exon15:c.2092-2A>G)	.	.	0.999989378869813	0.754
18	29800192	A	T	18	32220229	y	y	splicing	MEP1B(NM_005925:exon15:c.2092-2A>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon15:c.2092-2A>T)	.	.	0.999984399620937	0.75
18	29800193	G	A	18	32220230	y	y	splicing	MEP1B(NM_005925:exon15:c.2092-1G>A)	.	.	splicing	ENSG00000141434(ENST00000269202:exon15:c.2092-1G>A)	.	.	0.999969620222061	0.814
18	29800193	G	C	18	32220230	y	y	splicing	MEP1B(NM_005925:exon15:c.2092-1G>C)	.	.	splicing	ENSG00000141434(ENST00000269202:exon15:c.2092-1G>C)	.	.	0.999969620222061	0.812
18	29800193	G	T	18	32220230	y	y	splicing	MEP1B(NM_005925:exon15:c.2092-1G>T)	.	.	splicing	ENSG00000141434(ENST00000269202:exon15:c.2092-1G>T)	.	.	0.999969620222061	0.818
18	29800194	C	A	18	32220231	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon15:c.C2092A:p.Q698K;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000269202:exon15:c.C2092A:p.Q698K;	1.40318352999556E-5	0.078
18	29800194	C	G	18	32220231	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon15:c.C2092G:p.Q698E;	exonic	ENSG00000141434	nonsynonymous SNV	ENSG00000141434:ENST00000269202:exon15:c.C2092G:p.Q698E;	8.44356596367371E-5	0.108
18	29800194	C	T	18	32220231	y	y	exonic	MEP1B	stopgain SNV	MEP1B:NM_005925:exon15:c.C2092T:p.Q698X;	exonic	ENSG00000141434	stopgain SNV	ENSG00000141434:ENST00000269202:exon15:c.C2092T:p.Q698X;	2.98014230235003E-4	0.14
18	29800195	A	C	18	32220232	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon15:c.A2093C:p.Q698P;	exonic;splicing	ENSG00000141434;ENSG00000141434(ENST00000581447:exon15:c.2092-2A>C)	nonsynonymous SNV	ENSG00000141434:ENST00000269202:exon15:c.A2093C:p.Q698P;	4.30590473357832E-5	0.002
18	29800195	A	G	18	32220232	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon15:c.A2093G:p.Q698R;	exonic;splicing	ENSG00000141434;ENSG00000141434(ENST00000581447:exon15:c.2092-2A>G)	nonsynonymous SNV	ENSG00000141434:ENST00000269202:exon15:c.A2093G:p.Q698R;	7.70812753229837E-5	0.014
18	29800195	A	T	18	32220232	y	y	exonic	MEP1B	nonsynonymous SNV	MEP1B:NM_005925:exon15:c.A2093T:p.Q698L;	exonic;splicing	ENSG00000141434;ENSG00000141434(ENST00000581447:exon15:c.2092-2A>T)	nonsynonymous SNV	ENSG00000141434:ENST00000269202:exon15:c.A2093T:p.Q698L;	1.22452681402354E-5	0.0
18	29848730	T	A	18	32268767	y	y	exonic;splicing	GAREM;GAREM(NM_022751:exon7:c.1734-2A>T)	nonsynonymous SNV	GAREM:NM_001242409:exon6:c.A1735T:p.S579C;	exonic;splicing	ENSG00000141441;ENSG00000141441(ENST00000399218:exon7:c.1734-2A>T)	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon6:c.A1735T:p.S579C;	0.890922015423101	0.728
18	29848730	T	C	18	32268767	y	y	exonic;splicing	GAREM;GAREM(NM_022751:exon7:c.1734-2A>G)	nonsynonymous SNV	GAREM:NM_001242409:exon6:c.A1735G:p.S579G;	exonic;splicing	ENSG00000141441;ENSG00000141441(ENST00000399218:exon7:c.1734-2A>G)	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon6:c.A1735G:p.S579G;	0.903661864019125	0.61
18	29848730	T	G	18	32268767	y	y	exonic;splicing	GAREM;GAREM(NM_022751:exon7:c.1734-2A>C)	nonsynonymous SNV	GAREM:NM_001242409:exon6:c.A1735C:p.S579R;	exonic;splicing	ENSG00000141441;ENSG00000141441(ENST00000399218:exon7:c.1734-2A>C)	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon6:c.A1735C:p.S579R;	0.895154709159092	0.668
18	29848731	G	A	18	32268768	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_001242409:exon6:c.C1734T:p.I578I;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon6:c.C1734T:p.I578I;	0.0287318938908599	0.366
18	29848731	G	C	18	32268768	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_001242409:exon6:c.C1734G:p.I578M;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon6:c.C1734G:p.I578M;	0.00687708566029336	0.122
18	29848731	G	T	18	32268768	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_001242409:exon6:c.C1734A:p.I578I;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon6:c.C1734A:p.I578I;	0.00433112165899969	0.094
18	29848732	C	A	18	32268769	y	y	splicing	GAREM(NM_001242409:exon7:c.1734-1G>T)	.	.	splicing	ENSG00000141441(ENST00000269209:exon7:c.1734-1G>T)	.	.	0.999981175106168	0.926
18	29848732	C	G	18	32268769	y	y	splicing	GAREM(NM_001242409:exon7:c.1734-1G>C)	.	.	splicing	ENSG00000141441(ENST00000269209:exon7:c.1734-1G>C)	.	.	0.999981175106168	0.926
18	29848732	C	T	18	32268769	y	y	splicing	GAREM(NM_001242409:exon7:c.1734-1G>A)	.	.	splicing	ENSG00000141441(ENST00000269209:exon7:c.1734-1G>A)	.	.	0.999981175106168	0.926
18	29848733	T	A	18	32268770	y	y	splicing	GAREM(NM_001242409:exon7:c.1734-2A>T)	.	.	splicing	ENSG00000141441(ENST00000269209:exon7:c.1734-2A>T)	.	.	0.999962627417854	0.902
18	29848733	T	C	18	32268770	y	y	splicing	GAREM(NM_001242409:exon7:c.1734-2A>G)	.	.	splicing	ENSG00000141441(ENST00000269209:exon7:c.1734-2A>G)	.	.	0.999962627417854	0.916
18	29848733	T	G	18	32268770	y	y	splicing	GAREM(NM_001242409:exon7:c.1734-2A>C)	.	.	splicing	ENSG00000141441(ENST00000269209:exon7:c.1734-2A>C)	.	.	0.999962627417854	0.916
18	29848734	T	A	18	32268771	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.89840865044429E-5	0.016
18	29848734	T	C	18	32268771	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00572202784311127	0.188
18	29848734	T	G	18	32268771	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	3.24093913076739E-4	0.13
18	29848735	A	C	18	32268772	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	9.58990995859085E-4	0.008
18	29848735	A	G	18	32268772	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.94765419086441E-4	0.03
18	29848735	A	T	18	32268772	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.90405829094581E-4	0.01
18	29848736	A	C	18	32268773	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.927482837397242	0.632
18	29848736	A	G	18	32268773	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00499161132148637	0.226
18	29848736	A	T	18	32268773	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.958385658229084	0.634
18	29848737	A	C	18	32268774	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.843207346405026	0.586
18	29848737	A	G	18	32268774	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.58663309476889E-4	0.006
18	29848737	A	T	18	32268774	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.851833343503426	0.61
18	29848738	A	C	18	32268775	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.152233835832791	0.36
18	29848738	A	G	18	32268775	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.2624019068255E-4	0.026
18	29848738	A	T	18	32268775	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.159740050880616	0.412
18	29848739	G	A	18	32268776	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.87574913168271E-5	0.002
18	29848739	G	C	18	32268776	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00113865265978227	0.036
18	29848739	G	T	18	32268776	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00123519027976781	0.038
18	29848740	C	A	18	32268777	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	5.93476298176515E-4	0.13
18	29848740	C	G	18	32268777	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00156388447108195	0.172
18	29848740	C	T	18	32268777	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00307124479504584	0.26
18	29848741	A	C	18	32268778	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.124271706308947	0.512
18	29848741	A	G	18	32268778	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.40574619977329E-4	0.07
18	29848741	A	T	18	32268778	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999902535464839	0.964
18	29848742	A	C	18	32268779	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.385316446859518	0.642
18	29848742	A	G	18	32268779	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0290851470576358	0.296
18	29848742	A	T	18	32268779	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.886334893392957	0.766
18	29848743	A	C	18	32268780	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.865487603957366	0.788
18	29848743	A	G	18	32268780	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0567879917578887	0.18
18	29848743	A	T	18	32268780	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.97307770795782	0.852
18	29850172	A	C	18	32270209	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	6.53313434849662E-5	0.004
18	29850172	A	G	18	32270209	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	5.66057879071805E-5	0.004
18	29850172	A	T	18	32270209	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	3.59447606838317E-5	0.002
18	29850173	G	A	18	32270210	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.93753167364684E-5	0.008
18	29850173	G	C	18	32270210	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.93753167364684E-5	0.012
18	29850173	G	T	18	32270210	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.93753167364684E-5	0.002
18	29850174	A	C	18	32270211	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.93744592439704	0.694
18	29850174	A	G	18	32270211	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.96933951305528	0.826
18	29850174	A	T	18	32270211	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.97720300628665	0.792
18	29850175	C	A	18	32270212	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999685625506551	0.808
18	29850175	C	G	18	32270212	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.998358014958733	0.868
18	29850175	C	T	18	32270212	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.998636061946678	0.736
18	29850176	T	A	18	32270213	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.99869632570367	0.878
18	29850176	T	C	18	32270213	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.996432921757374	0.898
18	29850176	T	G	18	32270213	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.99391401822986	0.856
18	29850177	T	A	18	32270214	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.998402722371853	0.784
18	29850177	T	C	18	32270214	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00836676418980146	0.202
18	29850177	T	G	18	32270214	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999357475363899	0.858
18	29850178	A	C	18	32270215	y	y	splicing	GAREM(NM_022751:exon6:c.1733+2T>G;NM_001242409:exon6:c.1733+2T>G)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1733+2T>G;ENST00000269209:exon6:c.1733+2T>G)	.	.	0.999992752818502	0.928
18	29850178	A	G	18	32270215	y	y	splicing	GAREM(NM_022751:exon6:c.1733+2T>C;NM_001242409:exon6:c.1733+2T>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1733+2T>C;ENST00000269209:exon6:c.1733+2T>C)	.	.	0.992019297660769	0.648
18	29850178	A	T	18	32270215	y	y	splicing	GAREM(NM_022751:exon6:c.1733+2T>A;NM_001242409:exon6:c.1733+2T>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1733+2T>A;ENST00000269209:exon6:c.1733+2T>A)	.	.	0.999992752818502	0.928
18	29850179	C	A	18	32270216	y	y	splicing	GAREM(NM_022751:exon6:c.1733+1G>T;NM_001242409:exon6:c.1733+1G>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1733+1G>T;ENST00000269209:exon6:c.1733+1G>T)	.	.	0.999981760802075	0.938
18	29850179	C	G	18	32270216	y	y	splicing	GAREM(NM_022751:exon6:c.1733+1G>C;NM_001242409:exon6:c.1733+1G>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1733+1G>C;ENST00000269209:exon6:c.1733+1G>C)	.	.	0.999981760802075	0.938
18	29850179	C	T	18	32270216	y	y	splicing	GAREM(NM_022751:exon6:c.1733+1G>A;NM_001242409:exon6:c.1733+1G>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1733+1G>A;ENST00000269209:exon6:c.1733+1G>A)	.	.	0.999981760802075	0.938
18	29850180	A	C	18	32270217	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.T1733G:p.I578S;GAREM:NM_001242409:exon5:c.T1733G:p.I578S;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.T1733G:p.I578S;ENSG00000141441:ENST00000399218:exon5:c.T1733G:p.I578S;	2.1622944852942E-4	0.058
18	29850180	A	G	18	32270217	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.T1733C:p.I578T;GAREM:NM_001242409:exon5:c.T1733C:p.I578T;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.T1733C:p.I578T;ENSG00000141441:ENST00000399218:exon5:c.T1733C:p.I578T;	0.838672371409593	0.796
18	29850180	A	T	18	32270217	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.T1733A:p.I578N;GAREM:NM_001242409:exon5:c.T1733A:p.I578N;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.T1733A:p.I578N;ENSG00000141441:ENST00000399218:exon5:c.T1733A:p.I578N;	0.55570621258095	0.772
18	29850181	T	A	18	32270218	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.A1732T:p.I578F;GAREM:NM_001242409:exon5:c.A1732T:p.I578F;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.A1732T:p.I578F;ENSG00000141441:ENST00000399218:exon5:c.A1732T:p.I578F;	0.980850748889928	0.88
18	29850181	T	C	18	32270218	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.A1732G:p.I578V;GAREM:NM_001242409:exon5:c.A1732G:p.I578V;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.A1732G:p.I578V;ENSG00000141441:ENST00000399218:exon5:c.A1732G:p.I578V;	0.945290144182423	0.854
18	29850181	T	G	18	32270218	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.A1732C:p.I578L;GAREM:NM_001242409:exon5:c.A1732C:p.I578L;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.A1732C:p.I578L;ENSG00000141441:ENST00000399218:exon5:c.A1732C:p.I578L;	0.988922719451539	0.93
18	29850182	G	A	18	32270219	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon5:c.C1731T:p.N577N;GAREM:NM_001242409:exon5:c.C1731T:p.N577N;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.C1731T:p.N577N;ENSG00000141441:ENST00000399218:exon5:c.C1731T:p.N577N;	0.918961498106823	0.702
18	29850182	G	C	18	32270219	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.C1731G:p.N577K;GAREM:NM_001242409:exon5:c.C1731G:p.N577K;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.C1731G:p.N577K;ENSG00000141441:ENST00000399218:exon5:c.C1731G:p.N577K;	0.572480488686642	0.574
18	29850182	G	T	18	32270219	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.C1731A:p.N577K;GAREM:NM_001242409:exon5:c.C1731A:p.N577K;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.C1731A:p.N577K;ENSG00000141441:ENST00000399218:exon5:c.C1731A:p.N577K;	0.730426096868943	0.604
18	29850345	A	C	18	32270382	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.T1568G:p.V523G;GAREM:NM_001242409:exon5:c.T1568G:p.V523G;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.T1568G:p.V523G;ENSG00000141441:ENST00000399218:exon5:c.T1568G:p.V523G;	0.225088207458018	0.558
18	29850345	A	G	18	32270382	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.T1568C:p.V523A;GAREM:NM_001242409:exon5:c.T1568C:p.V523A;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.T1568C:p.V523A;ENSG00000141441:ENST00000399218:exon5:c.T1568C:p.V523A;	0.136136402485849	0.572
18	29850345	A	T	18	32270382	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.T1568A:p.V523D;GAREM:NM_001242409:exon5:c.T1568A:p.V523D;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.T1568A:p.V523D;ENSG00000141441:ENST00000399218:exon5:c.T1568A:p.V523D;	0.192137409096027	0.548
18	29850346	C	A	18	32270383	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.G1567T:p.V523F;GAREM:NM_001242409:exon5:c.G1567T:p.V523F;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.G1567T:p.V523F;ENSG00000141441:ENST00000399218:exon5:c.G1567T:p.V523F;	0.999858381589795	0.996
18	29850346	C	G	18	32270383	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.G1567C:p.V523L;GAREM:NM_001242409:exon5:c.G1567C:p.V523L;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.G1567C:p.V523L;ENSG00000141441:ENST00000399218:exon5:c.G1567C:p.V523L;	0.999809471518907	0.982
18	29850346	C	T	18	32270383	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon5:c.G1567A:p.V523I;GAREM:NM_001242409:exon5:c.G1567A:p.V523I;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon5:c.G1567A:p.V523I;ENSG00000141441:ENST00000399218:exon5:c.G1567A:p.V523I;	0.998568079275209	0.936
18	29850347	C	A	18	32270384	y	y	splicing	GAREM(NM_022751:exon6:c.1567-1G>T;NM_001242409:exon6:c.1567-1G>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1567-1G>T;ENST00000269209:exon6:c.1567-1G>T)	.	.	0.999981760802075	0.94
18	29850347	C	G	18	32270384	y	y	splicing	GAREM(NM_022751:exon6:c.1567-1G>C;NM_001242409:exon6:c.1567-1G>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1567-1G>C;ENST00000269209:exon6:c.1567-1G>C)	.	.	0.999981760802075	0.94
18	29850347	C	T	18	32270384	y	y	splicing	GAREM(NM_022751:exon6:c.1567-1G>A;NM_001242409:exon6:c.1567-1G>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1567-1G>A;ENST00000269209:exon6:c.1567-1G>A)	.	.	0.999981760802075	0.94
18	29850348	T	A	18	32270385	y	y	splicing	GAREM(NM_022751:exon6:c.1567-2A>T;NM_001242409:exon6:c.1567-2A>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1567-2A>T;ENST00000269209:exon6:c.1567-2A>T)	.	.	0.999989917668626	0.928
18	29850348	T	C	18	32270385	y	y	splicing	GAREM(NM_022751:exon6:c.1567-2A>G;NM_001242409:exon6:c.1567-2A>G)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1567-2A>G;ENST00000269209:exon6:c.1567-2A>G)	.	.	0.999989917668626	0.928
18	29850348	T	G	18	32270385	y	y	splicing	GAREM(NM_022751:exon6:c.1567-2A>C;NM_001242409:exon6:c.1567-2A>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon6:c.1567-2A>C;ENST00000269209:exon6:c.1567-2A>C)	.	.	0.999989917668626	0.928
18	29850349	G	A	18	32270386	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00275556862818866	0.066
18	29850349	G	C	18	32270386	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999752098562449	0.944
18	29850349	G	T	18	32270386	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.988573942018641	0.708
18	29850350	G	A	18	32270387	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0016999100742054	0.066
18	29850350	G	C	18	32270387	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.20379723967958E-4	0.016
18	29850350	G	T	18	32270387	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.66882251994284E-4	0.01
18	29850351	C	A	18	32270388	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.75693776376732E-5	0.004
18	29850351	C	G	18	32270388	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.6094927618622E-5	0.004
18	29850351	C	T	18	32270388	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.36300606558606E-5	0.002
18	29850352	G	A	18	32270389	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	3.56798336480478E-4	0.006
18	29850352	G	C	18	32270389	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.235396261999121	0.38
18	29850352	G	T	18	32270389	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999343511175171	0.938
18	29850353	C	A	18	32270390	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	5.4203306673107E-4	0.006
18	29850353	C	G	18	32270390	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	6.02540605703279E-4	0.004
18	29850353	C	T	18	32270390	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.95581943586145E-4	0.056
18	29850354	A	C	18	32270391	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00456733397692071	0.12
18	29850354	A	G	18	32270391	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.02003352345512E-4	0.004
18	29850354	A	T	18	32270391	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999847575417257	0.974
18	29850355	G	A	18	32270392	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0178325496449213	0.19
18	29850355	G	C	18	32270392	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00916859036334574	0.126
18	29850355	G	T	18	32270392	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0520132168256842	0.272
18	29850356	A	C	18	32270393	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.971915394521817	0.802
18	29850356	A	G	18	32270393	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00126292832321468	0.052
18	29850356	A	T	18	32270393	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.983254926006294	0.804
18	29850357	A	C	18	32270394	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.996756570199913	0.818
18	29850357	A	G	18	32270394	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.846067313517167	0.456
18	29850357	A	T	18	32270394	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999378294350577	0.966
18	29850358	A	C	18	32270395	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.864979271398031	0.546
18	29850358	A	G	18	32270395	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00242702046259316	0.078
18	29850358	A	T	18	32270395	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.679267359965653	0.6
18	29866986	T	A	18	32287023	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	3.41255410101511E-5	0.002
18	29866986	T	C	18	32287023	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.60962943069593E-5	0.002
18	29866986	T	G	18	32287023	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	3.41255410101511E-5	0.002
18	29866987	G	A	18	32287024	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.96837608660434E-4	0.002
18	29866987	G	C	18	32287024	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.87809060625718E-4	0.016
18	29866987	G	T	18	32287024	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.13816816228437E-4	0.016
18	29866988	A	C	18	32287025	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.988235210391799	0.782
18	29866988	A	G	18	32287025	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.989065006530327	0.798
18	29866988	A	T	18	32287025	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.984405164024496	0.748
18	29866989	C	A	18	32287026	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999979976666835	0.986
18	29866989	C	G	18	32287026	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999987694185256	0.992
18	29866989	C	T	18	32287026	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999987505589008	0.994
18	29866990	T	A	18	32287027	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.991632348723226	0.88
18	29866990	T	C	18	32287027	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.992705519018818	0.794
18	29866990	T	G	18	32287027	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.928190185231861	0.678
18	29866991	T	A	18	32287028	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999774062609267	0.958
18	29866991	T	C	18	32287028	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0150673324844013	0.184
18	29866991	T	G	18	32287028	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.99719301374198	0.932
18	29866992	A	C	18	32287029	y	y	splicing	GAREM(NM_022751:exon5:c.1566+2T>G;NM_001242409:exon5:c.1566+2T>G)	.	.	splicing	ENSG00000141441(ENST00000583696:exon2:c.65+2T>G;ENST00000399218:exon5:c.1566+2T>G;ENST00000269209:exon5:c.1566+2T>G)	.	.	0.999988247793601	0.926
18	29866992	A	G	18	32287029	y	y	splicing	GAREM(NM_022751:exon5:c.1566+2T>C;NM_001242409:exon5:c.1566+2T>C)	.	.	splicing	ENSG00000141441(ENST00000583696:exon2:c.65+2T>C;ENST00000399218:exon5:c.1566+2T>C;ENST00000269209:exon5:c.1566+2T>C)	.	.	0.994063255842726	0.716
18	29866992	A	T	18	32287029	y	y	splicing	GAREM(NM_022751:exon5:c.1566+2T>A;NM_001242409:exon5:c.1566+2T>A)	.	.	splicing	ENSG00000141441(ENST00000583696:exon2:c.65+2T>A;ENST00000399218:exon5:c.1566+2T>A;ENST00000269209:exon5:c.1566+2T>A)	.	.	0.999988247793601	0.926
18	29866993	C	A	18	32287030	y	y	splicing	GAREM(NM_022751:exon5:c.1566+1G>T;NM_001242409:exon5:c.1566+1G>T)	.	.	splicing	ENSG00000141441(ENST00000583696:exon2:c.65+1G>T;ENST00000399218:exon5:c.1566+1G>T;ENST00000269209:exon5:c.1566+1G>T)	.	.	0.999974416552168	0.936
18	29866993	C	G	18	32287030	y	y	splicing	GAREM(NM_022751:exon5:c.1566+1G>C;NM_001242409:exon5:c.1566+1G>C)	.	.	splicing	ENSG00000141441(ENST00000583696:exon2:c.65+1G>C;ENST00000399218:exon5:c.1566+1G>C;ENST00000269209:exon5:c.1566+1G>C)	.	.	0.999974416552168	0.938
18	29866993	C	T	18	32287030	y	y	splicing	GAREM(NM_022751:exon5:c.1566+1G>A;NM_001242409:exon5:c.1566+1G>A)	.	.	splicing	ENSG00000141441(ENST00000583696:exon2:c.65+1G>A;ENST00000399218:exon5:c.1566+1G>A;ENST00000269209:exon5:c.1566+1G>A)	.	.	0.999974416552168	0.93
18	29866994	G	A	18	32287031	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon4:c.C1566T:p.A522A;GAREM:NM_001242409:exon4:c.C1566T:p.A522A;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.C1566T:p.A522A;ENSG00000141441:ENST00000399218:exon4:c.C1566T:p.A522A;	2.13999867141007E-4	0.044
18	29866994	G	C	18	32287031	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon4:c.C1566G:p.A522A;GAREM:NM_001242409:exon4:c.C1566G:p.A522A;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.C1566G:p.A522A;ENSG00000141441:ENST00000399218:exon4:c.C1566G:p.A522A;	1.67689087304787E-4	0.222
18	29866994	G	T	18	32287031	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon4:c.C1566A:p.A522A;GAREM:NM_001242409:exon4:c.C1566A:p.A522A;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.C1566A:p.A522A;ENSG00000141441:ENST00000399218:exon4:c.C1566A:p.A522A;	1.35995032467571E-4	0.016
18	29866995	G	A	18	32287032	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.C1565T:p.A522V;GAREM:NM_001242409:exon4:c.C1565T:p.A522V;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.C1565T:p.A522V;ENSG00000141441:ENST00000399218:exon4:c.C1565T:p.A522V;	0.992774165523053	0.93
18	29866995	G	C	18	32287032	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.C1565G:p.A522G;GAREM:NM_001242409:exon4:c.C1565G:p.A522G;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.C1565G:p.A522G;ENSG00000141441:ENST00000399218:exon4:c.C1565G:p.A522G;	0.98598941148126	0.928
18	29866995	G	T	18	32287032	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.C1565A:p.A522D;GAREM:NM_001242409:exon4:c.C1565A:p.A522D;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.C1565A:p.A522D;ENSG00000141441:ENST00000399218:exon4:c.C1565A:p.A522D;	0.9697384716278	0.744
18	29866996	C	A	18	32287033	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.G1564T:p.A522S;GAREM:NM_001242409:exon4:c.G1564T:p.A522S;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.G1564T:p.A522S;ENSG00000141441:ENST00000399218:exon4:c.G1564T:p.A522S;	0.98451315735902	0.84
18	29866996	C	G	18	32287033	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.G1564C:p.A522P;GAREM:NM_001242409:exon4:c.G1564C:p.A522P;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.G1564C:p.A522P;ENSG00000141441:ENST00000399218:exon4:c.G1564C:p.A522P;	0.962319594865696	0.766
18	29866996	C	T	18	32287033	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.G1564A:p.A522T;GAREM:NM_001242409:exon4:c.G1564A:p.A522T;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.G1564A:p.A522T;ENSG00000141441:ENST00000399218:exon4:c.G1564A:p.A522T;	0.953253427837054	0.752
18	29868165	A	C	18	32288202	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.T395G:p.V132G;GAREM:NM_001242409:exon4:c.T395G:p.V132G;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.T395G:p.V132G;ENSG00000141441:ENST00000399218:exon4:c.T395G:p.V132G;	0.288536121147674	0.502
18	29868165	A	G	18	32288202	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.T395C:p.V132A;GAREM:NM_001242409:exon4:c.T395C:p.V132A;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.T395C:p.V132A;ENSG00000141441:ENST00000399218:exon4:c.T395C:p.V132A;	0.29589131067286	0.478
18	29868165	A	T	18	32288202	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.T395A:p.V132D;GAREM:NM_001242409:exon4:c.T395A:p.V132D;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.T395A:p.V132D;ENSG00000141441:ENST00000399218:exon4:c.T395A:p.V132D;	0.314641841057431	0.4
18	29868166	C	A	18	32288203	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.G394T:p.V132F;GAREM:NM_001242409:exon4:c.G394T:p.V132F;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.G394T:p.V132F;ENSG00000141441:ENST00000399218:exon4:c.G394T:p.V132F;	0.999815838785282	0.994
18	29868166	C	G	18	32288203	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.G394C:p.V132L;GAREM:NM_001242409:exon4:c.G394C:p.V132L;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.G394C:p.V132L;ENSG00000141441:ENST00000399218:exon4:c.G394C:p.V132L;	0.993085873658635	0.796
18	29868166	C	T	18	32288203	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon4:c.G394A:p.V132I;GAREM:NM_001242409:exon4:c.G394A:p.V132I;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon4:c.G394A:p.V132I;ENSG00000141441:ENST00000399218:exon4:c.G394A:p.V132I;	0.999222074786104	0.854
18	29868167	C	A	18	32288204	y	y	splicing	GAREM(NM_022751:exon5:c.394-1G>T;NM_001242409:exon5:c.394-1G>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon5:c.394-1G>T;ENST00000269209:exon5:c.394-1G>T)	.	.	0.99993314117114	0.944
18	29868167	C	G	18	32288204	y	y	splicing	GAREM(NM_022751:exon5:c.394-1G>C;NM_001242409:exon5:c.394-1G>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon5:c.394-1G>C;ENST00000269209:exon5:c.394-1G>C)	.	.	0.99993314117114	0.944
18	29868167	C	T	18	32288204	y	y	splicing	GAREM(NM_022751:exon5:c.394-1G>A;NM_001242409:exon5:c.394-1G>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon5:c.394-1G>A;ENST00000269209:exon5:c.394-1G>A)	.	.	0.99993314117114	0.932
18	29868168	T	A	18	32288205	y	y	splicing	GAREM(NM_022751:exon5:c.394-2A>T;NM_001242409:exon5:c.394-2A>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon5:c.394-2A>T;ENST00000269209:exon5:c.394-2A>T)	.	.	0.999964896440643	0.93
18	29868168	T	C	18	32288205	y	y	splicing	GAREM(NM_022751:exon5:c.394-2A>G;NM_001242409:exon5:c.394-2A>G)	.	.	splicing	ENSG00000141441(ENST00000399218:exon5:c.394-2A>G;ENST00000269209:exon5:c.394-2A>G)	.	.	0.999951957019574	0.894
18	29868168	T	G	18	32288205	y	y	splicing	GAREM(NM_022751:exon5:c.394-2A>C;NM_001242409:exon5:c.394-2A>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon5:c.394-2A>C;ENST00000269209:exon5:c.394-2A>C)	.	.	0.999951957019574	0.894
18	29868169	A	C	18	32288206	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.777272555173398	0.6
18	29868169	A	G	18	32288206	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	2.37372442807581E-5	0.008
18	29868169	A	T	18	32288206	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	8.72633618123089E-4	0.094
18	29868170	C	A	18	32288207	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	3.67287253593498E-5	0.022
18	29868170	C	G	18	32288207	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	5.27589585460914E-5	0.08
18	29868170	C	T	18	32288207	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	4.21312964338557E-5	0.11
18	29868171	A	C	18	32288208	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.378916469964291	0.374
18	29868171	A	G	18	32288208	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.45405450940942E-4	0.032
18	29868171	A	T	18	32288208	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.998923578126911	0.792
18	29868172	A	C	18	32288209	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.979153903903966	0.694
18	29868172	A	G	18	32288209	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	5.55516839763506E-5	0.038
18	29868172	A	T	18	32288209	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.0126760373741267	0.262
18	29868173	T	A	18	32288210	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.23109320325738E-5	0.006
18	29868173	T	C	18	32288210	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.46097942485422E-5	0.008
18	29868173	T	G	18	32288210	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.30325435910722E-5	0.006
18	29868174	A	C	18	32288211	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.999764402290403	0.992
18	29868174	A	G	18	32288211	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	2.97581042226365E-5	0.0
18	29868174	A	T	18	32288211	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.00145240123254237	0.04
18	29868175	T	A	18	32288212	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.27023735968538E-5	0.0
18	29868175	T	C	18	32288212	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.49235034756948E-5	0.0
18	29868175	T	G	18	32288212	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.34469293937031E-5	0.0
18	29868176	A	C	18	32288213	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.00639026968301458	0.168
18	29868176	A	G	18	32288213	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	9.80224079769981E-5	0.006
18	29868176	A	T	18	32288213	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.00278943320449218	0.148
18	29868177	A	C	18	32288214	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.999204703553293	0.95
18	29868177	A	G	18	32288214	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.00145374243227049	0.116
18	29868177	A	T	18	32288214	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	0.18750134010555	0.494
18	29868178	T	A	18	32288215	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.89971677129726E-5	0.004
18	29868178	T	C	18	32288215	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	4.86353859537805E-5	0.026
18	29868178	T	G	18	32288215	y	y	intronic	GAREM	.	.	ncRNA_intronic	ENSG00000264982	.	.	1.89971677129726E-5	0.004
18	29890148	G	A	18	32310185	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.65031196288336E-4	0.026
18	29890148	G	C	18	32310185	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00157999458850879	0.01
18	29890148	G	T	18	32310185	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	8.69441734733038E-4	0.016
18	29890149	C	A	18	32310186	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.7402529644223E-4	0.012
18	29890149	C	G	18	32310186	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	6.70168837463034E-5	0.004
18	29890149	C	T	18	32310186	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	6.80041040009801E-5	0.002
18	29890150	T	A	18	32310187	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.13187419918393E-4	0.032
18	29890150	T	C	18	32310187	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	3.04341972449261E-4	0.086
18	29890150	T	G	18	32310187	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.18948772962205E-4	0.046
18	29890151	A	C	18	32310188	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	9.48138525580299E-4	0.102
18	29890151	A	G	18	32310188	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.65953225993222E-4	0.0
18	29890151	A	T	18	32310188	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.60898184232398E-4	0.006
18	29890152	C	A	18	32310189	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0108528263509957	0.168
18	29890152	C	G	18	32310189	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0156920731470491	0.392
18	29890152	C	T	18	32310189	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00421124899051621	0.102
18	29890153	T	A	18	32310190	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999942857060054	0.95
18	29890153	T	C	18	32310190	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999814442777927	0.96
18	29890153	T	G	18	32310190	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999948391616444	0.886
18	29890154	A	C	18	32310191	y	y	splicing	GAREM(NM_022751:exon4:c.393+2T>G;NM_001242409:exon4:c.393+2T>G)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.393+2T>G;ENST00000269209:exon4:c.393+2T>G)	.	.	0.999988247793601	0.95
18	29890154	A	G	18	32310191	y	y	splicing	GAREM(NM_022751:exon4:c.393+2T>C;NM_001242409:exon4:c.393+2T>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.393+2T>C;ENST00000269209:exon4:c.393+2T>C)	.	.	0.99340600729494	0.706
18	29890154	A	T	18	32310191	y	y	splicing	GAREM(NM_022751:exon4:c.393+2T>A;NM_001242409:exon4:c.393+2T>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.393+2T>A;ENST00000269209:exon4:c.393+2T>A)	.	.	0.999988247793601	0.95
18	29890155	C	A	18	32310192	y	y	splicing	GAREM(NM_022751:exon4:c.393+1G>T;NM_001242409:exon4:c.393+1G>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.393+1G>T;ENST00000269209:exon4:c.393+1G>T)	.	.	0.999990361384395	0.948
18	29890155	C	G	18	32310192	y	y	splicing	GAREM(NM_022751:exon4:c.393+1G>C;NM_001242409:exon4:c.393+1G>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.393+1G>C;ENST00000269209:exon4:c.393+1G>C)	.	.	0.999990361384395	0.948
18	29890155	C	T	18	32310192	y	y	splicing	GAREM(NM_022751:exon4:c.393+1G>A;NM_001242409:exon4:c.393+1G>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.393+1G>A;ENST00000269209:exon4:c.393+1G>A)	.	.	0.999990361384395	0.948
18	29890156	C	A	18	32310193	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.G393T:p.K131N;GAREM:NM_001242409:exon3:c.G393T:p.K131N;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G393T:p.K131N;ENSG00000141441:ENST00000399218:exon3:c.G393T:p.K131N;	0.999994022190294	1.0
18	29890156	C	G	18	32310193	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.G393C:p.K131N;GAREM:NM_001242409:exon3:c.G393C:p.K131N;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G393C:p.K131N;ENSG00000141441:ENST00000399218:exon3:c.G393C:p.K131N;	0.999998088382475	1.0
18	29890156	C	T	18	32310193	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon3:c.G393A:p.K131K;GAREM:NM_001242409:exon3:c.G393A:p.K131K;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G393A:p.K131K;ENSG00000141441:ENST00000399218:exon3:c.G393A:p.K131K;	0.999994333260176	0.998
18	29890157	T	A	18	32310194	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.A392T:p.K131M;GAREM:NM_001242409:exon3:c.A392T:p.K131M;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.A392T:p.K131M;ENSG00000141441:ENST00000399218:exon3:c.A392T:p.K131M;	0.999979787756726	1.0
18	29890157	T	C	18	32310194	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.A392G:p.K131R;GAREM:NM_001242409:exon3:c.A392G:p.K131R;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.A392G:p.K131R;ENSG00000141441:ENST00000399218:exon3:c.A392G:p.K131R;	0.999981509381776	1.0
18	29890157	T	G	18	32310194	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.A392C:p.K131T;GAREM:NM_001242409:exon3:c.A392C:p.K131T;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.A392C:p.K131T;ENSG00000141441:ENST00000399218:exon3:c.A392C:p.K131T;	0.999953315389887	0.986
18	29890158	T	A	18	32310195	y	y	exonic	GAREM	stopgain SNV	GAREM:NM_022751:exon3:c.A391T:p.K131X;GAREM:NM_001242409:exon3:c.A391T:p.K131X;	exonic	ENSG00000141441	stopgain SNV	ENSG00000141441:ENST00000269209:exon3:c.A391T:p.K131X;ENSG00000141441:ENST00000399218:exon3:c.A391T:p.K131X;	0.999621931200532	0.908
18	29890158	T	C	18	32310195	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.A391G:p.K131E;GAREM:NM_001242409:exon3:c.A391G:p.K131E;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.A391G:p.K131E;ENSG00000141441:ENST00000399218:exon3:c.A391G:p.K131E;	0.942269609724874	0.566
18	29890158	T	G	18	32310195	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.A391C:p.K131Q;GAREM:NM_001242409:exon3:c.A391C:p.K131Q;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.A391C:p.K131Q;ENSG00000141441:ENST00000399218:exon3:c.A391C:p.K131Q;	0.840267492345691	0.732
18	29890285	C	A	18	32310322	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon3:c.G264T:p.G88G;GAREM:NM_001242409:exon3:c.G264T:p.G88G;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G264T:p.G88G;ENSG00000141441:ENST00000399218:exon3:c.G264T:p.G88G;	9.84681509515454E-5	0.0
18	29890285	C	G	18	32310322	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon3:c.G264C:p.G88G;GAREM:NM_001242409:exon3:c.G264C:p.G88G;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G264C:p.G88G;ENSG00000141441:ENST00000399218:exon3:c.G264C:p.G88G;	1.29649575566679E-4	0.02
18	29890285	C	T	18	32310322	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon3:c.G264A:p.G88G;GAREM:NM_001242409:exon3:c.G264A:p.G88G;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G264A:p.G88G;ENSG00000141441:ENST00000399218:exon3:c.G264A:p.G88G;	6.33804771573867E-5	0.002
18	29890286	C	A	18	32310323	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.G263T:p.G88V;GAREM:NM_001242409:exon3:c.G263T:p.G88V;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G263T:p.G88V;ENSG00000141441:ENST00000399218:exon3:c.G263T:p.G88V;	0.999652336690563	0.978
18	29890286	C	G	18	32310323	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.G263C:p.G88A;GAREM:NM_001242409:exon3:c.G263C:p.G88A;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G263C:p.G88A;ENSG00000141441:ENST00000399218:exon3:c.G263C:p.G88A;	0.999627646869086	0.944
18	29890286	C	T	18	32310323	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon3:c.G263A:p.G88E;GAREM:NM_001242409:exon3:c.G263A:p.G88E;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon3:c.G263A:p.G88E;ENSG00000141441:ENST00000399218:exon3:c.G263A:p.G88E;	0.999558078633021	0.962
18	29890287	C	A	18	32310324	y	y	splicing	GAREM(NM_022751:exon4:c.263-1G>T;NM_001242409:exon4:c.263-1G>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.263-1G>T;ENST00000269209:exon4:c.263-1G>T)	.	.	0.999990361384395	0.938
18	29890287	C	G	18	32310324	y	y	splicing	GAREM(NM_022751:exon4:c.263-1G>C;NM_001242409:exon4:c.263-1G>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.263-1G>C;ENST00000269209:exon4:c.263-1G>C)	.	.	0.999990361384395	0.938
18	29890287	C	T	18	32310324	y	y	splicing	GAREM(NM_022751:exon4:c.263-1G>A;NM_001242409:exon4:c.263-1G>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.263-1G>A;ENST00000269209:exon4:c.263-1G>A)	.	.	0.999990361384395	0.938
18	29890288	T	A	18	32310325	y	y	splicing	GAREM(NM_022751:exon4:c.263-2A>T;NM_001242409:exon4:c.263-2A>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.263-2A>T;ENST00000269209:exon4:c.263-2A>T)	.	.	0.999988247793601	0.93
18	29890288	T	C	18	32310325	y	y	splicing	GAREM(NM_022751:exon4:c.263-2A>G;NM_001242409:exon4:c.263-2A>G)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.263-2A>G;ENST00000269209:exon4:c.263-2A>G)	.	.	0.999988247793601	0.93
18	29890288	T	G	18	32310325	y	y	splicing	GAREM(NM_022751:exon4:c.263-2A>C;NM_001242409:exon4:c.263-2A>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon4:c.263-2A>C;ENST00000269209:exon4:c.263-2A>C)	.	.	0.999988247793601	0.93
18	29890289	A	C	18	32310326	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.991781090409813	0.718
18	29890289	A	G	18	32310326	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.2740984776127E-5	0.002
18	29890289	A	T	18	32310326	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00729518975274408	0.236
18	29890290	A	C	18	32310327	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.49010469438084E-4	0.094
18	29890290	A	G	18	32310327	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.92061803851947E-4	0.018
18	29890290	A	T	18	32310327	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.71279597641582E-4	0.03
18	29890291	A	C	18	32310328	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.998160209948678	0.962
18	29890291	A	G	18	32310328	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.472745316103799	0.49
18	29890291	A	T	18	32310328	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.998168783453954	0.948
18	29890292	A	C	18	32310329	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.990975933674141	0.834
18	29890292	A	G	18	32310329	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0100686385793333	0.278
18	29890292	A	T	18	32310329	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.992568056345746	0.812
18	29890293	C	A	18	32310330	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	9.25880761979849E-5	0.022
18	29890293	C	G	18	32310330	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.72740371506876E-5	0.0
18	29890293	C	T	18	32310330	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	5.09322393263161E-5	0.018
18	29890294	A	C	18	32310331	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.943599952070281	0.746
18	29890294	A	G	18	32310331	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0087306107343538	0.188
18	29890294	A	T	18	32310331	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999819317242471	0.982
18	29890295	C	A	18	32310332	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00997898745744089	0.098
18	29890295	C	G	18	32310332	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00997898745744089	0.054
18	29890295	C	T	18	32310332	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0999674583219096	0.262
18	29890296	A	C	18	32310333	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.392774760781369	0.542
18	29890296	A	G	18	32310333	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00295352397460697	0.094
18	29890296	A	T	18	32310333	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999818252339192	0.968
18	29890297	G	A	18	32310334	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.54076201572977E-5	0.076
18	29890297	G	C	18	32310334	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.28001435236163E-4	0.08
18	29890297	G	T	18	32310334	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	6.14667823973503E-5	0.002
18	29890298	G	A	18	32310335	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.18593622051633E-4	0.024
18	29890298	G	C	18	32310335	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00229292224980598	0.068
18	29890298	G	T	18	32310335	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00364747180397466	0.088
18	29972850	A	C	18	32392887	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.25679263643157E-4	0.002
18	29972850	A	G	18	32392887	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.94521681473452E-4	0.002
18	29972850	A	T	18	32392887	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.48225238174322E-4	0.006
18	29972851	G	A	18	32392888	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	3.34995841846762E-4	0.002
18	29972851	G	C	18	32392888	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.0137201333722E-4	0.0
18	29972851	G	T	18	32392888	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.70474572935874E-4	0.004
18	29972852	T	A	18	32392889	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	6.10219599151254E-5	0.01
18	29972852	T	C	18	32392889	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	7.10592842148185E-5	0.0
18	29972852	T	G	18	32392889	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.5609447636563E-4	0.006
18	29972853	C	A	18	32392890	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.722263001236401	0.348
18	29972853	C	G	18	32392890	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.656579675581603	0.298
18	29972853	C	T	18	32392890	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.838074644495012	0.338
18	29972854	T	A	18	32392891	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.981258617017123	0.698
18	29972854	T	C	18	32392891	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.959830168400629	0.62
18	29972854	T	G	18	32392891	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.94734291800059	0.658
18	29972855	T	A	18	32392892	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.988183798826661	0.872
18	29972855	T	C	18	32392892	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.19296896028126	0.376
18	29972855	T	G	18	32392892	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.995380776502192	0.87
18	29972856	A	C	18	32392893	y	y	splicing	GAREM(NM_022751:exon3:c.262+2T>G;NM_001242409:exon3:c.262+2T>G)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.262+2T>G;ENST00000269209:exon3:c.262+2T>G)	.	.	0.999988247793601	0.93
18	29972856	A	G	18	32392893	y	y	splicing	GAREM(NM_022751:exon3:c.262+2T>C;NM_001242409:exon3:c.262+2T>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.262+2T>C;ENST00000269209:exon3:c.262+2T>C)	.	.	0.995320650369382	0.706
18	29972856	A	T	18	32392893	y	y	splicing	GAREM(NM_022751:exon3:c.262+2T>A;NM_001242409:exon3:c.262+2T>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.262+2T>A;ENST00000269209:exon3:c.262+2T>A)	.	.	0.999988247793601	0.93
18	29972857	C	A	18	32392894	y	y	splicing	GAREM(NM_022751:exon3:c.262+1G>T;NM_001242409:exon3:c.262+1G>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.262+1G>T;ENST00000269209:exon3:c.262+1G>T)	.	.	0.999990361384395	0.938
18	29972857	C	G	18	32392894	y	y	splicing	GAREM(NM_022751:exon3:c.262+1G>C;NM_001242409:exon3:c.262+1G>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.262+1G>C;ENST00000269209:exon3:c.262+1G>C)	.	.	0.999990361384395	0.938
18	29972857	C	T	18	32392894	y	y	splicing	GAREM(NM_022751:exon3:c.262+1G>A;NM_001242409:exon3:c.262+1G>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.262+1G>A;ENST00000269209:exon3:c.262+1G>A)	.	.	0.999990361384395	0.938
18	29972858	C	A	18	32392895	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.G262T:p.G88W;GAREM:NM_001242409:exon2:c.G262T:p.G88W;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.G262T:p.G88W;ENSG00000141441:ENST00000399218:exon2:c.G262T:p.G88W;	0.999974243092113	0.978
18	29972858	C	G	18	32392895	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.G262C:p.G88R;GAREM:NM_001242409:exon2:c.G262C:p.G88R;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.G262C:p.G88R;ENSG00000141441:ENST00000399218:exon2:c.G262C:p.G88R;	0.999966667372267	0.948
18	29972858	C	T	18	32392895	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.G262A:p.G88R;GAREM:NM_001242409:exon2:c.G262A:p.G88R;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.G262A:p.G88R;ENSG00000141441:ENST00000399218:exon2:c.G262A:p.G88R;	0.999981843375886	0.986
18	29972859	T	A	18	32392896	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon2:c.A261T:p.A87A;GAREM:NM_001242409:exon2:c.A261T:p.A87A;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.A261T:p.A87A;ENSG00000141441:ENST00000399218:exon2:c.A261T:p.A87A;	0.579306588460494	0.522
18	29972859	T	C	18	32392896	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon2:c.A261G:p.A87A;GAREM:NM_001242409:exon2:c.A261G:p.A87A;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.A261G:p.A87A;ENSG00000141441:ENST00000399218:exon2:c.A261G:p.A87A;	0.58366675287341	0.658
18	29972859	T	G	18	32392896	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon2:c.A261C:p.A87A;GAREM:NM_001242409:exon2:c.A261C:p.A87A;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.A261C:p.A87A;ENSG00000141441:ENST00000399218:exon2:c.A261C:p.A87A;	0.793295132779756	0.642
18	29972860	G	A	18	32392897	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.C260T:p.A87V;GAREM:NM_001242409:exon2:c.C260T:p.A87V;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.C260T:p.A87V;ENSG00000141441:ENST00000399218:exon2:c.C260T:p.A87V;	0.998999056285146	0.738
18	29972860	G	C	18	32392897	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.C260G:p.A87G;GAREM:NM_001242409:exon2:c.C260G:p.A87G;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.C260G:p.A87G;ENSG00000141441:ENST00000399218:exon2:c.C260G:p.A87G;	0.816133485501573	0.55
18	29972860	G	T	18	32392897	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.C260A:p.A87E;GAREM:NM_001242409:exon2:c.C260A:p.A87E;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.C260A:p.A87E;ENSG00000141441:ENST00000399218:exon2:c.C260A:p.A87E;	0.016668465473669	0.13
18	29972997	T	A	18	32393034	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon2:c.A123T:p.G41G;GAREM:NM_001242409:exon2:c.A123T:p.G41G;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.A123T:p.G41G;ENSG00000141441:ENST00000399218:exon2:c.A123T:p.G41G;	3.89537298685182E-5	0.0
18	29972997	T	C	18	32393034	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon2:c.A123G:p.G41G;GAREM:NM_001242409:exon2:c.A123G:p.G41G;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.A123G:p.G41G;ENSG00000141441:ENST00000399218:exon2:c.A123G:p.G41G;	1.44791182871848E-4	0.016
18	29972997	T	G	18	32393034	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon2:c.A123C:p.G41G;GAREM:NM_001242409:exon2:c.A123C:p.G41G;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.A123C:p.G41G;ENSG00000141441:ENST00000399218:exon2:c.A123C:p.G41G;	9.73057009807743E-5	0.01
18	29972998	C	A	18	32393035	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.G122T:p.G41V;GAREM:NM_001242409:exon2:c.G122T:p.G41V;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.G122T:p.G41V;ENSG00000141441:ENST00000399218:exon2:c.G122T:p.G41V;	0.999963132858996	0.99
18	29972998	C	G	18	32393035	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.G122C:p.G41A;GAREM:NM_001242409:exon2:c.G122C:p.G41A;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.G122C:p.G41A;ENSG00000141441:ENST00000399218:exon2:c.G122C:p.G41A;	0.999936696727706	0.974
18	29972998	C	T	18	32393035	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon2:c.G122A:p.G41E;GAREM:NM_001242409:exon2:c.G122A:p.G41E;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon2:c.G122A:p.G41E;ENSG00000141441:ENST00000399218:exon2:c.G122A:p.G41E;	0.999770311563333	0.932
18	29972999	C	A	18	32393036	y	y	splicing	GAREM(NM_022751:exon3:c.122-1G>T;NM_001242409:exon3:c.122-1G>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.122-1G>T;ENST00000269209:exon3:c.122-1G>T)	.	.	0.999990361384395	0.948
18	29972999	C	G	18	32393036	y	y	splicing	GAREM(NM_022751:exon3:c.122-1G>C;NM_001242409:exon3:c.122-1G>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.122-1G>C;ENST00000269209:exon3:c.122-1G>C)	.	.	0.999990361384395	0.948
18	29972999	C	T	18	32393036	y	y	splicing	GAREM(NM_022751:exon3:c.122-1G>A;NM_001242409:exon3:c.122-1G>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.122-1G>A;ENST00000269209:exon3:c.122-1G>A)	.	.	0.999990361384395	0.948
18	29973000	T	A	18	32393037	y	y	splicing	GAREM(NM_022751:exon3:c.122-2A>T;NM_001242409:exon3:c.122-2A>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.122-2A>T;ENST00000269209:exon3:c.122-2A>T)	.	.	0.999988247793601	0.95
18	29973000	T	C	18	32393037	y	y	splicing	GAREM(NM_022751:exon3:c.122-2A>G;NM_001242409:exon3:c.122-2A>G)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.122-2A>G;ENST00000269209:exon3:c.122-2A>G)	.	.	0.999988247793601	0.95
18	29973000	T	G	18	32393037	y	y	splicing	GAREM(NM_022751:exon3:c.122-2A>C;NM_001242409:exon3:c.122-2A>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon3:c.122-2A>C;ENST00000269209:exon3:c.122-2A>C)	.	.	0.999988247793601	0.95
18	29973001	A	C	18	32393038	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.91228186565561	0.646
18	29973001	A	G	18	32393038	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	9.53773722713814E-5	0.034
18	29973001	A	T	18	32393038	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0755440794337544	0.344
18	29973002	G	A	18	32393039	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	6.76938641456305E-4	0.034
18	29973002	G	C	18	32393039	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	5.10218335891785E-4	0.028
18	29973002	G	T	18	32393039	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	5.2806897893023E-4	0.01
18	29973003	G	A	18	32393040	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	3.07716768054959E-5	0.008
18	29973003	G	C	18	32393040	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00206425306978731	0.11
18	29973003	G	T	18	32393040	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	5.24231423404763E-4	0.076
18	29973004	A	C	18	32393041	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.952319381401637	0.498
18	29973004	A	G	18	32393041	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.00407778692805997	0.072
18	29973004	A	T	18	32393041	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.949922772119639	0.57
18	29973005	A	C	18	32393042	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0104985675612497	0.17
18	29973005	A	G	18	32393042	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.3089631033323E-4	0.072
18	29973005	A	T	18	32393042	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.01475501243075	0.184
18	29973006	A	C	18	32393043	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999932042893966	0.984
18	29973006	A	G	18	32393043	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	8.5010506090268E-4	0.106
18	29973006	A	T	18	32393043	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.188968265570545	0.412
18	29973007	T	A	18	32393044	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.71511541251566E-5	0.01
18	29973007	T	C	18	32393044	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	4.31511927390432E-5	0.004
18	29973007	T	G	18	32393044	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.81564726183924E-5	0.004
18	29973008	A	C	18	32393045	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.238023151689453	0.448
18	29973008	A	G	18	32393045	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0112820963705149	0.092
18	29973008	A	T	18	32393045	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.128684427450458	0.488
18	29973009	C	A	18	32393046	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.17913830874576E-5	0.018
18	29973009	C	G	18	32393046	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.77539872595324E-5	0.032
18	29973009	C	T	18	32393046	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	8.80954743164503E-5	0.03
18	29973010	A	C	18	32393047	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0415555123627092	0.368
18	29973010	A	G	18	32393047	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.73044029778358E-4	0.056
18	29973010	A	T	18	32393047	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.99960175662408	0.956
18	30050263	G	A	18	32470300	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.25458628587614E-4	0.01
18	30050263	G	C	18	32470300	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.13579648059738E-4	0.012
18	30050263	G	T	18	32470300	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.57609061075964E-4	0.014
18	30050264	G	A	18	32470301	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.45234808197806E-4	0.078
18	30050264	G	C	18	32470301	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.09913527278822E-4	0.006
18	30050264	G	T	18	32470301	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	2.09913527278822E-4	0.022
18	30050265	A	C	18	32470302	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.893755929847266	0.552
18	30050265	A	G	18	32470302	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.906153136688739	0.564
18	30050265	A	T	18	32470302	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.960863426467616	0.692
18	30050266	C	A	18	32470303	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999579153368857	0.872
18	30050266	C	G	18	32470303	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999706460840454	0.98
18	30050266	C	T	18	32470303	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.999729949092492	0.888
18	30050267	T	A	18	32470304	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.970577613294521	0.766
18	30050267	T	C	18	32470304	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.961353457975767	0.804
18	30050267	T	G	18	32470304	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.782121082354218	0.712
18	30050268	C	A	18	32470305	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.192764732831442	0.504
18	30050268	C	G	18	32470305	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	0.0928363357904249	0.508
18	30050268	C	T	18	32470305	y	y	intronic	GAREM	.	.	intronic	ENSG00000141441	.	.	1.29995276536826E-4	0.002
18	30050269	A	C	18	32470306	y	y	splicing	GAREM(NM_022751:exon2:c.121+2T>G;NM_001242409:exon2:c.121+2T>G)	.	.	splicing	ENSG00000141441(ENST00000399218:exon2:c.121+2T>G;ENST00000269209:exon2:c.121+2T>G)	.	.	0.999991790889593	0.924
18	30050269	A	G	18	32470306	y	y	splicing	GAREM(NM_022751:exon2:c.121+2T>C;NM_001242409:exon2:c.121+2T>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon2:c.121+2T>C;ENST00000269209:exon2:c.121+2T>C)	.	.	0.999944601460915	0.858
18	30050269	A	T	18	32470306	y	y	splicing	GAREM(NM_022751:exon2:c.121+2T>A;NM_001242409:exon2:c.121+2T>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon2:c.121+2T>A;ENST00000269209:exon2:c.121+2T>A)	.	.	0.999991790889593	0.924
18	30050270	C	A	18	32470307	y	y	splicing	GAREM(NM_022751:exon2:c.121+1G>T;NM_001242409:exon2:c.121+1G>T)	.	.	splicing	ENSG00000141441(ENST00000399218:exon2:c.121+1G>T;ENST00000269209:exon2:c.121+1G>T)	.	.	0.999991783345782	0.93
18	30050270	C	G	18	32470307	y	y	splicing	GAREM(NM_022751:exon2:c.121+1G>C;NM_001242409:exon2:c.121+1G>C)	.	.	splicing	ENSG00000141441(ENST00000399218:exon2:c.121+1G>C;ENST00000269209:exon2:c.121+1G>C)	.	.	0.999991783345782	0.93
18	30050270	C	T	18	32470307	y	y	splicing	GAREM(NM_022751:exon2:c.121+1G>A;NM_001242409:exon2:c.121+1G>A)	.	.	splicing	ENSG00000141441(ENST00000399218:exon2:c.121+1G>A;ENST00000269209:exon2:c.121+1G>A)	.	.	0.999991783345782	0.93
18	30050271	C	A	18	32470308	y	y	exonic	GAREM	stopgain SNV	GAREM:NM_022751:exon1:c.G121T:p.G41X;GAREM:NM_001242409:exon1:c.G121T:p.G41X;	exonic	ENSG00000141441	stopgain SNV	ENSG00000141441:ENST00000269209:exon1:c.G121T:p.G41X;ENSG00000141441:ENST00000399218:exon1:c.G121T:p.G41X;	0.999943522063673	0.92
18	30050271	C	G	18	32470308	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon1:c.G121C:p.G41R;GAREM:NM_001242409:exon1:c.G121C:p.G41R;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon1:c.G121C:p.G41R;ENSG00000141441:ENST00000399218:exon1:c.G121C:p.G41R;	0.999713550722863	0.942
18	30050271	C	T	18	32470308	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon1:c.G121A:p.G41R;GAREM:NM_001242409:exon1:c.G121A:p.G41R;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon1:c.G121A:p.G41R;ENSG00000141441:ENST00000399218:exon1:c.G121A:p.G41R;	0.999701887916246	0.976
18	30050272	G	A	18	32470309	y	y	exonic	GAREM	synonymous SNV	GAREM:NM_022751:exon1:c.C120T:p.N40N;GAREM:NM_001242409:exon1:c.C120T:p.N40N;	exonic	ENSG00000141441	synonymous SNV	ENSG00000141441:ENST00000269209:exon1:c.C120T:p.N40N;ENSG00000141441:ENST00000399218:exon1:c.C120T:p.N40N;	0.170676607561229	0.386
18	30050272	G	C	18	32470309	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon1:c.C120G:p.N40K;GAREM:NM_001242409:exon1:c.C120G:p.N40K;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon1:c.C120G:p.N40K;ENSG00000141441:ENST00000399218:exon1:c.C120G:p.N40K;	0.0017319219892845	0.106
18	30050272	G	T	18	32470309	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon1:c.C120A:p.N40K;GAREM:NM_001242409:exon1:c.C120A:p.N40K;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon1:c.C120A:p.N40K;ENSG00000141441:ENST00000399218:exon1:c.C120A:p.N40K;	9.39765225325339E-4	0.076
18	30050273	T	A	18	32470310	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon1:c.A119T:p.N40I;GAREM:NM_001242409:exon1:c.A119T:p.N40I;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon1:c.A119T:p.N40I;ENSG00000141441:ENST00000399218:exon1:c.A119T:p.N40I;	0.00231575014274946	0.124
18	30050273	T	C	18	32470310	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon1:c.A119G:p.N40S;GAREM:NM_001242409:exon1:c.A119G:p.N40S;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon1:c.A119G:p.N40S;ENSG00000141441:ENST00000399218:exon1:c.A119G:p.N40S;	7.8892311567692E-5	0.004
18	30050273	T	G	18	32470310	y	y	exonic	GAREM	nonsynonymous SNV	GAREM:NM_022751:exon1:c.A119C:p.N40T;GAREM:NM_001242409:exon1:c.A119C:p.N40T;	exonic	ENSG00000141441	nonsynonymous SNV	ENSG00000141441:ENST00000269209:exon1:c.A119C:p.N40T;ENSG00000141441:ENST00000399218:exon1:c.A119C:p.N40T;	3.83696004453409E-5	0.012
18	30254759	C	A	18	32674796	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon9:c.G1748T:p.G583V;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon9:c.G1748T:p.G583V;	0.976285951047782	0.89
18	30254759	C	G	18	32674796	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon9:c.G1748C:p.G583A;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon9:c.G1748C:p.G583A;	0.98140848909142	0.896
18	30254759	C	T	18	32674796	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon9:c.G1748A:p.G583E;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon9:c.G1748A:p.G583E;	0.98140848909142	0.898
18	30254760	C	A	18	32674797	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon9:c.G1747T:p.G583W;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon9:c.G1747T:p.G583W;	0.999659490196397	0.99
18	30254760	C	G	18	32674797	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon9:c.G1747C:p.G583R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon9:c.G1747C:p.G583R;	0.900311404179389	0.736
18	30254760	C	T	18	32674797	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon9:c.G1747A:p.G583R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon9:c.G1747A:p.G583R;	0.888561620990023	0.66
18	30254761	C	A	18	32674798	y	y	splicing	KLHL14(NM_020805:exon10:c.1747-1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon10:c.1747-1G>T)	.	.	0.999990361384395	0.938
18	30254761	C	G	18	32674798	y	y	splicing	KLHL14(NM_020805:exon10:c.1747-1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon10:c.1747-1G>C)	.	.	0.999990361384395	0.938
18	30254761	C	T	18	32674798	y	y	splicing	KLHL14(NM_020805:exon10:c.1747-1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon10:c.1747-1G>A)	.	.	0.999990361384395	0.938
18	30254762	T	A	18	32674799	y	y	splicing	KLHL14(NM_020805:exon10:c.1747-2A>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon10:c.1747-2A>T)	.	.	0.999988247793601	0.932
18	30254762	T	C	18	32674799	y	y	splicing	KLHL14(NM_020805:exon10:c.1747-2A>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon10:c.1747-2A>G)	.	.	0.999988247793601	0.932
18	30254762	T	G	18	32674799	y	y	splicing	KLHL14(NM_020805:exon10:c.1747-2A>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon10:c.1747-2A>C)	.	.	0.999988247793601	0.932
18	30254763	G	A	18	32674800	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0088661796883422	0.15
18	30254763	G	C	18	32674800	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999533017778185	0.908
18	30254763	G	T	18	32674800	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.65111362152686	0.49
18	30254764	T	A	18	32674801	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.24210075450649E-4	0.004
18	30254764	T	C	18	32674801	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.00410803580857E-5	0.008
18	30254764	T	G	18	32674801	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.86391995138238E-5	0.004
18	30254765	A	C	18	32674802	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.576038579361219	0.51
18	30254765	A	G	18	32674802	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0560051348101244	0.154
18	30254765	A	T	18	32674802	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.709014067027801	0.49
18	30254766	A	C	18	32674803	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999860882397141	0.98
18	30254766	A	G	18	32674803	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.54938965128837E-4	0.004
18	30254766	A	T	18	32674803	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.239200119598276	0.422
18	30254767	T	A	18	32674804	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.91708894531713E-5	0.002
18	30254767	T	C	18	32674804	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.32589097196795E-5	0.0
18	30254767	T	G	18	32674804	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.16744130590876E-5	0.006
18	30254768	G	A	18	32674805	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.76216206662287E-5	0.008
18	30254768	G	C	18	32674805	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.25406529760088E-4	0.048
18	30254768	G	T	18	32674805	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00148814057485674	0.026
18	30254769	A	C	18	32674806	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00845519700118509	0.106
18	30254769	A	G	18	32674806	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	8.68237582626255E-5	0.0
18	30254769	A	T	18	32674806	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0171538741010683	0.108
18	30254770	C	A	18	32674807	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.9493815676493E-5	0.0
18	30254770	C	G	18	32674807	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.79539812874238E-5	0.002
18	30254770	C	T	18	32674807	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.08961936282791E-4	0.006
18	30254771	A	C	18	32674808	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.653949960650927	0.52
18	30254771	A	G	18	32674808	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.248542229128725	0.268
18	30254771	A	T	18	32674808	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999904016334485	0.934
18	30254772	G	A	18	32674809	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.40620027338078E-5	0.0
18	30254772	G	C	18	32674809	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.84181482725524E-5	0.006
18	30254772	G	T	18	32674809	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.99088820693921E-5	0.016
18	30257128	A	C	18	32677165	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.11525491301004E-4	0.044
18	30257128	A	G	18	32677165	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.96815135200452E-4	0.008
18	30257128	A	T	18	32677165	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.65305303543323E-4	0.004
18	30257129	C	A	18	32677166	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.10682103735018E-4	0.0
18	30257129	C	G	18	32677166	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.61092884025426E-5	0.0
18	30257129	C	T	18	32677166	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.61092884025426E-5	0.0
18	30257130	A	C	18	32677167	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.585210109954355	0.55
18	30257130	A	G	18	32677167	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.66546090881523	0.552
18	30257130	A	T	18	32677167	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.925335988157125	0.586
18	30257131	C	A	18	32677168	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999851287149232	0.962
18	30257131	C	G	18	32677168	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999934140192566	0.926
18	30257131	C	T	18	32677168	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999865762280287	0.952
18	30257132	A	C	18	32677169	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.46647138958913E-5	0.068
18	30257132	A	G	18	32677169	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.87954621938784E-5	0.006
18	30257132	A	T	18	32677169	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.83237632374181E-5	0.046
18	30257133	T	A	18	32677170	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.998399856907386	0.828
18	30257133	T	C	18	32677170	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.986949466252585	0.814
18	30257133	T	G	18	32677170	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999786074208205	0.938
18	30257134	A	C	18	32677171	y	y	splicing	KLHL14(NM_020805:exon9:c.1746+2T>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1746+2T>G)	.	.	0.999988247793601	0.93
18	30257134	A	G	18	32677171	y	y	splicing	KLHL14(NM_020805:exon9:c.1746+2T>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1746+2T>C)	.	.	0.995320650369382	0.706
18	30257134	A	T	18	32677171	y	y	splicing	KLHL14(NM_020805:exon9:c.1746+2T>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1746+2T>A)	.	.	0.999988247793601	0.93
18	30257135	C	A	18	32677172	y	y	splicing	KLHL14(NM_020805:exon9:c.1746+1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1746+1G>T)	.	.	0.999990361384395	0.938
18	30257135	C	G	18	32677172	y	y	splicing	KLHL14(NM_020805:exon9:c.1746+1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1746+1G>C)	.	.	0.999990361384395	0.938
18	30257135	C	T	18	32677172	y	y	splicing	KLHL14(NM_020805:exon9:c.1746+1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1746+1G>A)	.	.	0.999990361384395	0.938
18	30257136	C	A	18	32677173	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.G1746T:p.M582I;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.G1746T:p.M582I;	0.999982027746342	0.99
18	30257136	C	G	18	32677173	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.G1746C:p.M582I;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.G1746C:p.M582I;	0.99999419006127	0.958
18	30257136	C	T	18	32677173	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.G1746A:p.M582I;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.G1746A:p.M582I;	0.999986438850217	1.0
18	30257137	A	C	18	32677174	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.T1745G:p.M582R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.T1745G:p.M582R;	0.983507853693053	0.856
18	30257137	A	G	18	32677174	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.T1745C:p.M582T;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.T1745C:p.M582T;	0.433102779517009	0.586
18	30257137	A	T	18	32677174	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.T1745A:p.M582K;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.T1745A:p.M582K;	0.777892518902994	0.544
18	30257138	T	A	18	32677175	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.A1744T:p.M582L;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.A1744T:p.M582L;	0.996844140694734	0.764
18	30257138	T	C	18	32677175	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.A1744G:p.M582V;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.A1744G:p.M582V;	0.815809334580478	0.486
18	30257138	T	G	18	32677175	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.A1744C:p.M582L;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.A1744C:p.M582L;	0.860880915880458	0.622
18	30257292	A	C	18	32677329	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon8:c.T1590G:p.G530G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.T1590G:p.G530G;	3.43131763119944E-4	0.004
18	30257292	A	G	18	32677329	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon8:c.T1590C:p.G530G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.T1590C:p.G530G;	3.54777790786315E-4	0.024
18	30257292	A	T	18	32677329	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon8:c.T1590A:p.G530G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.T1590A:p.G530G;	8.84618732281859E-4	0.076
18	30257293	C	A	18	32677330	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.G1589T:p.G530V;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.G1589T:p.G530V;	0.999868906592853	0.992
18	30257293	C	G	18	32677330	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.G1589C:p.G530A;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.G1589C:p.G530A;	0.99977697862604	0.948
18	30257293	C	T	18	32677330	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon8:c.G1589A:p.G530D;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon8:c.G1589A:p.G530D;	0.999571127060544	0.914
18	30257294	C	A	18	32677331	y	y	splicing	KLHL14(NM_020805:exon9:c.1589-1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1589-1G>T)	.	.	0.999990361384395	0.938
18	30257294	C	G	18	32677331	y	y	splicing	KLHL14(NM_020805:exon9:c.1589-1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1589-1G>C)	.	.	0.999990361384395	0.938
18	30257294	C	T	18	32677331	y	y	splicing	KLHL14(NM_020805:exon9:c.1589-1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1589-1G>A)	.	.	0.999990361384395	0.938
18	30257295	T	A	18	32677332	y	y	splicing	KLHL14(NM_020805:exon9:c.1589-2A>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1589-2A>T)	.	.	0.999988247793601	0.93
18	30257295	T	C	18	32677332	y	y	splicing	KLHL14(NM_020805:exon9:c.1589-2A>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1589-2A>G)	.	.	0.999988247793601	0.93
18	30257295	T	G	18	32677332	y	y	splicing	KLHL14(NM_020805:exon9:c.1589-2A>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon9:c.1589-2A>C)	.	.	0.999988247793601	0.93
18	30257296	A	C	18	32677333	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.998699323348042	0.782
18	30257296	A	G	18	32677333	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.1461475144588E-4	0.016
18	30257296	A	T	18	32677333	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.122803244092415	0.37
18	30257297	A	C	18	32677334	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.7966932846311E-5	0.002
18	30257297	A	G	18	32677334	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.20323519977944E-5	0.0
18	30257297	A	T	18	32677334	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.00133048207139E-4	0.002
18	30257298	G	A	18	32677335	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.07190689082923E-5	0.002
18	30257298	G	C	18	32677335	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.998936955042874	0.954
18	30257298	G	T	18	32677335	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00175522145368074	0.078
18	30257299	T	A	18	32677336	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.68904076410993E-5	0.026
18	30257299	T	C	18	32677336	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.03945911485791E-4	0.0
18	30257299	T	G	18	32677336	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.89478949584891E-5	0.0
18	30257300	G	A	18	32677337	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.25939795040293E-5	0.0
18	30257300	G	C	18	32677337	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.58346104076215E-4	0.04
18	30257300	G	T	18	32677337	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.10471338661873E-4	0.036
18	30257301	A	C	18	32677338	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0048641080692812	0.312
18	30257301	A	G	18	32677338	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.36606767997579E-5	0.002
18	30257301	A	T	18	32677338	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0254434259117724	0.296
18	30257302	C	A	18	32677339	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.72079148374876E-5	0.002
18	30257302	C	G	18	32677339	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.22894574583739E-5	0.0
18	30257302	C	T	18	32677339	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.76788497722901E-4	0.09
18	30257303	A	C	18	32677340	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0134177797053775	0.316
18	30257303	A	G	18	32677340	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.34181659212059E-4	0.016
18	30257303	A	T	18	32677340	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.99996551067111	0.916
18	30257304	G	A	18	32677341	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.50297785653851E-5	0.008
18	30257304	G	C	18	32677341	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.8497875271198E-5	0.006
18	30257304	G	T	18	32677341	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.00835992825041E-4	0.08
18	30257305	A	C	18	32677342	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00686969633254453	0.3
18	30257305	A	G	18	32677342	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.1549075746974E-4	0.03
18	30257305	A	T	18	32677342	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0110339532884634	0.338
18	30260124	A	C	18	32680161	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.72787559495066E-5	0.112
18	30260124	A	G	18	32680161	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	8.60709056963712E-5	0.064
18	30260124	A	T	18	32680161	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.72787559495066E-5	0.024
18	30260125	A	C	18	32680162	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.1956404037333E-5	0.028
18	30260125	A	G	18	32680162	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.1956404037333E-5	0.04
18	30260125	A	T	18	32680162	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.9592890367356E-5	0.022
18	30260126	A	C	18	32680163	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0543320537699048	0.508
18	30260126	A	G	18	32680163	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.102110694420576	0.526
18	30260126	A	T	18	32680163	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.14383518578618	0.518
18	30260127	A	C	18	32680164	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.16240972061684E-4	0.056
18	30260127	A	G	18	32680164	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0132827978236133	0.112
18	30260127	A	T	18	32680164	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00155660505853935	0.122
18	30260128	A	C	18	32680165	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0139916392708481	0.108
18	30260128	A	G	18	32680165	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0182839383854543	0.188
18	30260128	A	T	18	32680165	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.84104215898464E-4	0.096
18	30260129	G	A	18	32680166	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00331897305947592	0.102
18	30260129	G	C	18	32680166	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.91977610088103E-4	0.144
18	30260129	G	T	18	32680166	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.03513713755998E-4	0.078
18	30260130	A	C	18	32680167	y	y	splicing	KLHL14(NM_020805:exon8:c.1588+2T>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1588+2T>G)	.	.	0.999933834912627	0.892
18	30260130	A	G	18	32680167	y	y	splicing	KLHL14(NM_020805:exon8:c.1588+2T>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1588+2T>C)	.	.	0.955523855327804	0.618
18	30260130	A	T	18	32680167	y	y	splicing	KLHL14(NM_020805:exon8:c.1588+2T>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1588+2T>A)	.	.	0.999933834912627	0.894
18	30260131	C	A	18	32680168	y	y	splicing	KLHL14(NM_020805:exon8:c.1588+1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1588+1G>T)	.	.	0.999985060940668	0.89
18	30260131	C	G	18	32680168	y	y	splicing	KLHL14(NM_020805:exon8:c.1588+1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1588+1G>C)	.	.	0.999985060940668	0.892
18	30260131	C	T	18	32680168	y	y	splicing	KLHL14(NM_020805:exon8:c.1588+1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1588+1G>A)	.	.	0.999985060940668	0.89
18	30260132	C	A	18	32680169	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.G1588T:p.G530C;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1588T:p.G530C;	0.999988491319408	0.956
18	30260132	C	G	18	32680169	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.G1588C:p.G530R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1588C:p.G530R;	0.9999873320823	0.96
18	30260132	C	T	18	32680169	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.G1588A:p.G530S;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1588A:p.G530S;	0.999991454527509	0.966
18	30260133	T	A	18	32680170	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.A1587T:p.K529N;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.A1587T:p.K529N;	0.999596435786359	0.932
18	30260133	T	C	18	32680170	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon7:c.A1587G:p.K529K;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.A1587G:p.K529K;	0.997877167090288	0.906
18	30260133	T	G	18	32680170	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.A1587C:p.K529N;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.A1587C:p.K529N;	0.99966545342463	0.95
18	30260134	T	A	18	32680171	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.A1586T:p.K529I;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.A1586T:p.K529I;	0.991877069133398	0.778
18	30260134	T	C	18	32680171	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.A1586G:p.K529R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.A1586G:p.K529R;	0.0295147205952668	0.222
18	30260134	T	G	18	32680171	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.A1586C:p.K529T;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.A1586C:p.K529T;	0.866729715621595	0.726
18	30260289	C	A	18	32680326	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon7:c.G1431T:p.G477G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1431T:p.G477G;	1.15540766383299E-4	0.006
18	30260289	C	G	18	32680326	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon7:c.G1431C:p.G477G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1431C:p.G477G;	3.58094738270837E-5	0.004
18	30260289	C	T	18	32680326	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon7:c.G1431A:p.G477G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1431A:p.G477G;	1.78466042401552E-4	0.014
18	30260290	C	A	18	32680327	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.G1430T:p.G477V;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1430T:p.G477V;	0.999878476545975	0.966
18	30260290	C	G	18	32680327	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.G1430C:p.G477A;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1430C:p.G477A;	0.999697848570818	0.926
18	30260290	C	T	18	32680327	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon7:c.G1430A:p.G477E;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon7:c.G1430A:p.G477E;	0.99920877155516	0.926
18	30260291	C	A	18	32680328	y	y	splicing	KLHL14(NM_020805:exon8:c.1430-1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1430-1G>T)	.	.	0.999990361384395	0.938
18	30260291	C	G	18	32680328	y	y	splicing	KLHL14(NM_020805:exon8:c.1430-1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1430-1G>C)	.	.	0.999990361384395	0.938
18	30260291	C	T	18	32680328	y	y	splicing	KLHL14(NM_020805:exon8:c.1430-1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1430-1G>A)	.	.	0.999990361384395	0.938
18	30260292	T	A	18	32680329	y	y	splicing	KLHL14(NM_020805:exon8:c.1430-2A>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1430-2A>T)	.	.	0.999988247793601	0.93
18	30260292	T	C	18	32680329	y	y	splicing	KLHL14(NM_020805:exon8:c.1430-2A>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1430-2A>G)	.	.	0.999988247793601	0.93
18	30260292	T	G	18	32680329	y	y	splicing	KLHL14(NM_020805:exon8:c.1430-2A>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon8:c.1430-2A>C)	.	.	0.999988247793601	0.93
18	30260293	G	A	18	32680330	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.274772233791465	0.118
18	30260293	G	C	18	32680330	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999922650806568	0.944
18	30260293	G	T	18	32680330	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.99927305625985	0.742
18	30260294	T	A	18	32680331	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00109555876965216	0.052
18	30260294	T	C	18	32680331	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.57138111839069E-4	0.014
18	30260294	T	G	18	32680331	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.77575968176719E-4	0.0
18	30260295	G	A	18	32680332	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.73711007137073E-4	0.004
18	30260295	G	C	18	32680332	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00299646882343083	0.178
18	30260295	G	T	18	32680332	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.21895116366968E-4	0.082
18	30260296	A	C	18	32680333	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0127407348269873	0.132
18	30260296	A	G	18	32680333	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.3889270847944E-5	0.002
18	30260296	A	T	18	32680333	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0144965380087524	0.096
18	30260297	A	C	18	32680334	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.18899764671109	0.33
18	30260297	A	G	18	32680334	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.53789836359159E-4	0.006
18	30260297	A	T	18	32680334	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.301557448982706	0.458
18	30260298	A	C	18	32680335	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.992294000634243	0.954
18	30260298	A	G	18	32680335	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.0917412770196E-5	0.0
18	30260298	A	T	18	32680335	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.92307248405406E-4	0.042
18	30260299	T	A	18	32680336	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.65615933456057E-5	0.0
18	30260299	T	C	18	32680336	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.30953837381916E-5	0.004
18	30260299	T	G	18	32680336	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.17613534878846E-5	0.0
18	30260300	A	C	18	32680337	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0609129374937121	0.372
18	30260300	A	G	18	32680337	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.71928607258433E-4	0.052
18	30260300	A	T	18	32680337	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0171345071001002	0.312
18	30260301	A	C	18	32680338	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.149453344139152	0.446
18	30260301	A	G	18	32680338	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00146443203701057	0.072
18	30260301	A	T	18	32680338	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.336316278337505	0.446
18	30260302	A	C	18	32680339	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0446552303100204	0.314
18	30260302	A	G	18	32680339	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.8120529146947E-4	0.002
18	30260302	A	T	18	32680339	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.061464322346847	0.292
18	30260561	T	A	18	32680598	y	y	exonic	KLHL14	stopgain SNV	KLHL14:NM_020805:exon6:c.A1240T:p.R414X;	exonic	ENSG00000197705	stopgain SNV	ENSG00000197705:ENST00000359358:exon6:c.A1240T:p.R414X;	0.904696766170153	0.8
18	30260561	T	C	18	32680598	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon6:c.A1240G:p.R414G;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon6:c.A1240G:p.R414G;	0.931093783479003	0.782
18	30260561	T	G	18	32680598	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon6:c.A1240C:p.R414R;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon6:c.A1240C:p.R414R;	0.00475802629806717	0.072
18	30260562	T	A	18	32680599	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon6:c.A1239T:p.R413S;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon6:c.A1239T:p.R413S;	0.0301207604188492	0.246
18	30260562	T	C	18	32680599	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon6:c.A1239G:p.R413R;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon6:c.A1239G:p.R413R;	2.33372057264098E-5	0.014
18	30260562	T	G	18	32680599	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon6:c.A1239C:p.R413S;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon6:c.A1239C:p.R413S;	0.00860413036724053	0.166
18	30260563	C	A	18	32680600	y	y	splicing	KLHL14(NM_020805:exon7:c.1239-1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon7:c.1239-1G>T)	.	.	0.999990361384395	0.948
18	30260563	C	G	18	32680600	y	y	splicing	KLHL14(NM_020805:exon7:c.1239-1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon7:c.1239-1G>C)	.	.	0.999990361384395	0.948
18	30260563	C	T	18	32680600	y	y	splicing	KLHL14(NM_020805:exon7:c.1239-1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon7:c.1239-1G>A)	.	.	0.999990361384395	0.948
18	30260564	T	A	18	32680601	y	y	splicing	KLHL14(NM_020805:exon7:c.1239-2A>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon7:c.1239-2A>T)	.	.	0.999986607513753	0.932
18	30260564	T	C	18	32680601	y	y	splicing	KLHL14(NM_020805:exon7:c.1239-2A>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon7:c.1239-2A>G)	.	.	0.999986607513753	0.932
18	30260564	T	G	18	32680601	y	y	splicing	KLHL14(NM_020805:exon7:c.1239-2A>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon7:c.1239-2A>C)	.	.	0.999986607513753	0.932
18	30260565	A	C	18	32680602	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.957008624430469	0.674
18	30260565	A	G	18	32680602	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.34192341974408E-4	0.0
18	30260565	A	T	18	32680602	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0276926930568577	0.286
18	30260566	C	A	18	32680603	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.05287034511768E-4	0.0
18	30260566	C	G	18	32680603	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	8.95114057302796E-5	0.008
18	30260566	C	T	18	32680603	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.59251754569963E-5	0.028
18	30260567	A	C	18	32680604	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.336683169984451	0.384
18	30260567	A	G	18	32680604	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.48682939487806E-4	0.12
18	30260567	A	T	18	32680604	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999800006056051	0.956
18	30260568	A	C	18	32680605	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999904220577927	0.99
18	30260568	A	G	18	32680605	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.32606522623581E-4	0.02
18	30260568	A	T	18	32680605	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00370297209949084	0.174
18	30260569	T	A	18	32680606	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.16696670502414E-5	0.0
18	30260569	T	C	18	32680606	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.4614849591618E-5	0.0
18	30260569	T	G	18	32680606	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.31873730530706E-5	0.01
18	30260570	G	A	18	32680607	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.82118522527184E-4	0.004
18	30260570	G	C	18	32680607	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0129041099399874	0.114
18	30260570	G	T	18	32680607	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00142024756836932	0.094
18	30260571	A	C	18	32680608	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00289859695912215	0.146
18	30260571	A	G	18	32680608	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.83047487890267E-4	0.09
18	30260571	A	T	18	32680608	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00342872118721444	0.16
18	30260572	A	C	18	32680609	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00554270331258962	0.156
18	30260572	A	G	18	32680609	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.34274609255208E-4	0.062
18	30260572	A	T	18	32680609	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00514180549720616	0.164
18	30260573	A	C	18	32680610	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0167705004122309	0.378
18	30260573	A	G	18	32680610	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00557555338484534	0.184
18	30260573	A	T	18	32680610	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0177692204690687	0.408
18	30260574	A	C	18	32680611	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00107411351006324	0.066
18	30260574	A	G	18	32680611	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00105327241177878	0.06
18	30260574	A	T	18	32680611	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00361760646728935	0.156
18	30267110	A	C	18	32687147	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.5210596949361E-4	0.0
18	30267110	A	G	18	32687147	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.5210596949361E-4	0.0
18	30267110	A	T	18	32687147	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00112860188305749	0.0
18	30267111	C	A	18	32687148	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.55905251275735E-4	0.03
18	30267111	C	G	18	32687148	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.22517745771715E-4	0.014
18	30267111	C	T	18	32687148	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.13367330730345E-4	0.014
18	30267112	A	C	18	32687149	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00157830846424053	0.054
18	30267112	A	G	18	32687149	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00589856615096331	0.032
18	30267112	A	T	18	32687149	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0023143899553023	0.11
18	30267113	C	A	18	32687150	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.930248378694478	0.672
18	30267113	C	G	18	32687150	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.870896060511659	0.622
18	30267113	C	T	18	32687150	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.858019490115124	0.648
18	30267114	T	A	18	32687151	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.975427614306464	0.836
18	30267114	T	C	18	32687151	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.977381511097561	0.848
18	30267114	T	G	18	32687151	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.963125033155416	0.86
18	30267115	T	A	18	32687152	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.990698691083763	0.806
18	30267115	T	C	18	32687152	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.545740701644034	0.22
18	30267115	T	G	18	32687152	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.997213205376388	0.92
18	30267116	A	C	18	32687153	y	y	splicing	KLHL14(NM_020805:exon6:c.1238+2T>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1238+2T>G)	.	.	0.999989917668626	0.928
18	30267116	A	G	18	32687153	y	y	splicing	KLHL14(NM_020805:exon6:c.1238+2T>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1238+2T>C)	.	.	0.991007250132327	0.62
18	30267116	A	T	18	32687153	y	y	splicing	KLHL14(NM_020805:exon6:c.1238+2T>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1238+2T>A)	.	.	0.999989917668626	0.928
18	30267117	C	A	18	32687154	y	y	splicing	KLHL14(NM_020805:exon6:c.1238+1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1238+1G>T)	.	.	0.999986675681007	0.934
18	30267117	C	G	18	32687154	y	y	splicing	KLHL14(NM_020805:exon6:c.1238+1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1238+1G>C)	.	.	0.999986675681007	0.934
18	30267117	C	T	18	32687154	y	y	splicing	KLHL14(NM_020805:exon6:c.1238+1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1238+1G>A)	.	.	0.999986675681007	0.934
18	30267118	C	A	18	32687155	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.G1238T:p.R413I;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.G1238T:p.R413I;	0.999431084984537	0.87
18	30267118	C	G	18	32687155	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.G1238C:p.R413T;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.G1238C:p.R413T;	0.999216851298315	0.924
18	30267118	C	T	18	32687155	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.G1238A:p.R413K;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.G1238A:p.R413K;	0.997137828799719	0.878
18	30267119	T	A	18	32687156	y	y	exonic	KLHL14	stopgain SNV	KLHL14:NM_020805:exon5:c.A1237T:p.R413X;	exonic	ENSG00000197705	stopgain SNV	ENSG00000197705:ENST00000359358:exon5:c.A1237T:p.R413X;	0.77027778505707	0.5
18	30267119	T	C	18	32687156	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.A1237G:p.R413G;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.A1237G:p.R413G;	0.592104385466718	0.484
18	30267119	T	G	18	32687156	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon5:c.A1237C:p.R413R;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.A1237C:p.R413R;	0.251992057022264	0.504
18	30267120	T	A	18	32687157	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.A1236T:p.E412D;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.A1236T:p.E412D;	0.896861315408151	0.458
18	30267120	T	C	18	32687157	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon5:c.A1236G:p.E412E;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.A1236G:p.E412E;	0.00833949456021621	0.104
18	30267120	T	G	18	32687157	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.A1236C:p.E412D;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.A1236C:p.E412D;	0.549146573319897	0.622
18	30267195	T	A	18	32687232	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon5:c.A1161T:p.G387G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.A1161T:p.G387G;	1.19370100364428E-5	0.108
18	30267195	T	C	18	32687232	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon5:c.A1161G:p.G387G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.A1161G:p.G387G;	6.60641245194936E-5	0.128
18	30267195	T	G	18	32687232	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon5:c.A1161C:p.G387G;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.A1161C:p.G387G;	1.08069258865288E-4	0.104
18	30267196	C	A	18	32687233	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.G1160T:p.G387V;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.G1160T:p.G387V;	0.99985239779143	0.99
18	30267196	C	G	18	32687233	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.G1160C:p.G387A;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.G1160C:p.G387A;	0.999675076797908	0.99
18	30267196	C	T	18	32687233	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon5:c.G1160A:p.G387E;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon5:c.G1160A:p.G387E;	0.999528621941004	0.91
18	30267197	C	A	18	32687234	y	y	splicing	KLHL14(NM_020805:exon6:c.1160-1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1160-1G>T)	.	.	0.999984967332678	0.948
18	30267197	C	G	18	32687234	y	y	splicing	KLHL14(NM_020805:exon6:c.1160-1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1160-1G>C)	.	.	0.999984967332678	0.948
18	30267197	C	T	18	32687234	y	y	splicing	KLHL14(NM_020805:exon6:c.1160-1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1160-1G>A)	.	.	0.999984967332678	0.948
18	30267198	T	A	18	32687235	y	y	splicing	KLHL14(NM_020805:exon6:c.1160-2A>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1160-2A>T)	.	.	0.999988624979899	0.938
18	30267198	T	C	18	32687235	y	y	splicing	KLHL14(NM_020805:exon6:c.1160-2A>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1160-2A>G)	.	.	0.999988624979899	0.938
18	30267198	T	G	18	32687235	y	y	splicing	KLHL14(NM_020805:exon6:c.1160-2A>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon6:c.1160-2A>C)	.	.	0.999988624979899	0.938
18	30267199	G	A	18	32687236	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.563525414206577	0.226
18	30267199	G	C	18	32687236	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999934427320642	0.954
18	30267199	G	T	18	32687236	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999655864476091	0.902
18	30267200	T	A	18	32687237	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.12008354746387E-4	0.012
18	30267200	T	C	18	32687237	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.17475385476836E-4	0.09
18	30267200	T	G	18	32687237	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.62678899702632E-4	0.072
18	30267201	A	C	18	32687238	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.887939400986848	0.536
18	30267201	A	G	18	32687238	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00668135152093709	0.172
18	30267201	A	T	18	32687238	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.639475157055285	0.55
18	30267202	A	C	18	32687239	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.983043208667007	0.866
18	30267202	A	G	18	32687239	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.41884875819121E-4	0.054
18	30267202	A	T	18	32687239	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.983046476462292	0.854
18	30267203	A	C	18	32687240	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.905472671760849	0.626
18	30267203	A	G	18	32687240	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00243141724271151	0.118
18	30267203	A	T	18	32687240	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.946100052557038	0.804
18	30267204	A	C	18	32687241	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.002973010621746	0.172
18	30267204	A	G	18	32687241	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.75274952759946E-4	0.01
18	30267204	A	T	18	32687241	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.111000671942689	0.314
18	30267205	A	C	18	32687242	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999928976310401	0.996
18	30267205	A	G	18	32687242	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00157782022446307	0.13
18	30267205	A	T	18	32687242	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0760360134889431	0.454
18	30267206	T	A	18	32687243	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.43875161078727E-4	0.062
18	30267206	T	C	18	32687243	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00159391830742435	0.038
18	30267206	T	G	18	32687243	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.79517799841579E-4	0.048
18	30267207	G	A	18	32687244	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.31048255348909E-6	0.008
18	30267207	G	C	18	32687244	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.41911569004737E-4	0.082
18	30267207	G	T	18	32687244	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.62089189491596E-4	0.032
18	30267208	C	A	18	32687245	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.67944982512943E-5	0.004
18	30267208	C	G	18	32687245	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.67944982512943E-5	0.0
18	30267208	C	T	18	32687245	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.37511779034358E-4	0.022
18	30275418	A	C	18	32695455	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.07255113134779E-4	0.018
18	30275418	A	G	18	32695455	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.67661742432517E-5	0.0
18	30275418	A	T	18	32695455	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	8.47883310835202E-5	0.0
18	30275419	T	A	18	32695456	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00327366879537131	0.03
18	30275419	T	C	18	32695456	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00426859113799213	0.038
18	30275419	T	G	18	32695456	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00134021137942491	0.006
18	30275420	A	C	18	32695457	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0215485909233431	0.334
18	30275420	A	G	18	32695457	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.764601646591451	0.44
18	30275420	A	T	18	32695457	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.866139184080905	0.416
18	30275421	G	A	18	32695458	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.20960044392042E-5	0.006
18	30275421	G	C	18	32695458	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.68928664748058E-4	0.068
18	30275421	G	T	18	32695458	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.70707900001673E-4	0.018
18	30275422	T	A	18	32695459	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.972469741891533	0.746
18	30275422	T	C	18	32695459	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.996054706353264	0.876
18	30275422	T	G	18	32695459	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.918626353547629	0.75
18	30275423	T	A	18	32695460	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999931037164182	0.94
18	30275423	T	C	18	32695460	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999346754844229	0.902
18	30275423	T	G	18	32695460	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999915742913788	0.938
18	30275424	A	C	18	32695461	y	y	splicing	KLHL14(NM_020805:exon5:c.1159+2T>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1159+2T>G)	.	.	0.999988247793601	0.928
18	30275424	A	G	18	32695461	y	y	splicing	KLHL14(NM_020805:exon5:c.1159+2T>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1159+2T>C)	.	.	0.99340600729494	0.636
18	30275424	A	T	18	32695461	y	y	splicing	KLHL14(NM_020805:exon5:c.1159+2T>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1159+2T>A)	.	.	0.999988247793601	0.928
18	30275425	C	A	18	32695462	y	y	splicing	KLHL14(NM_020805:exon5:c.1159+1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1159+1G>T)	.	.	0.999985532734767	0.936
18	30275425	C	G	18	32695462	y	y	splicing	KLHL14(NM_020805:exon5:c.1159+1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1159+1G>C)	.	.	0.999985532734767	0.936
18	30275425	C	T	18	32695462	y	y	splicing	KLHL14(NM_020805:exon5:c.1159+1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1159+1G>A)	.	.	0.999985532734767	0.936
18	30275426	C	A	18	32695463	y	y	exonic	KLHL14	stopgain SNV	KLHL14:NM_020805:exon4:c.G1159T:p.G387X;	exonic	ENSG00000197705	stopgain SNV	ENSG00000197705:ENST00000359358:exon4:c.G1159T:p.G387X;	0.999964104041661	0.952
18	30275426	C	G	18	32695463	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.G1159C:p.G387R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.G1159C:p.G387R;	0.999991579223159	1.0
18	30275426	C	T	18	32695463	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.G1159A:p.G387R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.G1159A:p.G387R;	0.999995506971607	1.0
18	30275427	A	C	18	32695464	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.T1158G:p.N386K;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1158G:p.N386K;	0.00743909488524823	0.198
18	30275427	A	G	18	32695464	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon4:c.T1158C:p.N386N;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1158C:p.N386N;	0.014450725244145	0.192
18	30275427	A	T	18	32695464	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.T1158A:p.N386K;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1158A:p.N386K;	6.83251614948627E-4	0.134
18	30275428	T	A	18	32695465	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.A1157T:p.N386I;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.A1157T:p.N386I;	0.975563185590441	0.754
18	30275428	T	C	18	32695465	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.A1157G:p.N386S;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.A1157G:p.N386S;	0.695191364141578	0.528
18	30275428	T	G	18	32695465	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.A1157C:p.N386T;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.A1157C:p.N386T;	0.919009764312682	0.742
18	30275514	A	C	18	32695551	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.T1071G:p.I357M;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1071G:p.I357M;	4.63345271791876E-4	0.002
18	30275514	A	G	18	32695551	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon4:c.T1071C:p.I357I;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1071C:p.I357I;	6.48253103523E-4	0.05
18	30275514	A	T	18	32695551	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon4:c.T1071A:p.I357I;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1071A:p.I357I;	8.3225157578079E-4	0.016
18	30275515	A	C	18	32695552	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.T1070G:p.I357S;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1070G:p.I357S;	0.200031817818899	0.424
18	30275515	A	G	18	32695552	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.T1070C:p.I357T;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1070C:p.I357T;	0.453909505924987	0.416
18	30275515	A	T	18	32695552	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon4:c.T1070A:p.I357N;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon4:c.T1070A:p.I357N;	0.684739150294683	0.686
18	30275516	C	A	18	32695553	y	y	splicing	KLHL14(NM_020805:exon5:c.1070-1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1070-1G>T)	.	.	0.999987124402133	0.936
18	30275516	C	G	18	32695553	y	y	splicing	KLHL14(NM_020805:exon5:c.1070-1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1070-1G>C)	.	.	0.999987124402133	0.936
18	30275516	C	T	18	32695553	y	y	splicing	KLHL14(NM_020805:exon5:c.1070-1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1070-1G>A)	.	.	0.999987124402133	0.936
18	30275517	T	A	18	32695554	y	y	splicing	KLHL14(NM_020805:exon5:c.1070-2A>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1070-2A>T)	.	.	0.999988247793601	0.93
18	30275517	T	C	18	32695554	y	y	splicing	KLHL14(NM_020805:exon5:c.1070-2A>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1070-2A>G)	.	.	0.999988247793601	0.93
18	30275517	T	G	18	32695554	y	y	splicing	KLHL14(NM_020805:exon5:c.1070-2A>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon5:c.1070-2A>C)	.	.	0.999988247793601	0.93
18	30275518	G	A	18	32695555	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00771454576488512	0.044
18	30275518	G	C	18	32695555	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999736828900844	0.97
18	30275518	G	T	18	32695555	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.343207725790572	0.486
18	30275519	A	C	18	32695556	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.99230049420779E-5	0.0
18	30275519	A	G	18	32695556	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.61692985156683E-6	0.0
18	30275519	A	T	18	32695556	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.82078711600632E-5	0.008
18	30275520	A	C	18	32695557	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.460368494565293	0.374
18	30275520	A	G	18	32695557	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0171862385587501	0.256
18	30275520	A	T	18	32695557	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.286204059740588	0.358
18	30275521	A	C	18	32695558	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999763948234969	0.916
18	30275521	A	G	18	32695558	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.09524827409894E-5	0.02
18	30275521	A	T	18	32695558	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.386318606146023	0.498
18	30275522	T	A	18	32695559	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.99586486770397E-6	0.006
18	30275522	T	C	18	32695559	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.995767038732209	0.88
18	30275522	T	G	18	32695559	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.0534219038257E-5	0.012
18	30275523	T	A	18	32695560	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.82172034945632E-5	0.06
18	30275523	T	C	18	32695560	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	8.55448999580537E-5	0.072
18	30275523	T	G	18	32695560	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.65350414661666E-5	0.096
18	30275524	A	C	18	32695561	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0013741556642941	0.346
18	30275524	A	G	18	32695561	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.30252533339381E-5	0.004
18	30275524	A	T	18	32695561	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00258050226665655	0.28
18	30275525	A	C	18	32695562	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.164610279767116	0.512
18	30275525	A	G	18	32695562	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.40660044510121E-4	0.028
18	30275525	A	T	18	32695562	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0787842554484843	0.496
18	30275526	G	A	18	32695563	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.48610436204387E-5	0.008
18	30275526	G	C	18	32695563	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.21017267920998E-4	0.044
18	30275526	G	T	18	32695563	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.50141196734334E-4	0.12
18	30275527	A	C	18	32695564	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00205259031983563	0.122
18	30275527	A	G	18	32695564	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.12966012849058E-5	0.004
18	30275527	A	T	18	32695564	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00170582129512062	0.146
18	30314207	G	A	18	32734244	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000358095:exon4:c.C1071T:p.I357I;	9.21619245134896E-5	0.022
18	30314207	G	C	18	32734244	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000358095:exon4:c.C1071G:p.I357M;	1.47952223173846E-4	0.006
18	30314207	G	T	18	32734244	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000358095:exon4:c.C1071A:p.I357I;	9.21619245134896E-5	0.004
18	30314208	A	C	18	32734245	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000358095:exon4:c.T1070G:p.I357S;	0.00232869313350842	0.036
18	30314208	A	G	18	32734245	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000358095:exon4:c.T1070C:p.I357T;	0.00232869313350842	0.028
18	30314208	A	T	18	32734245	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000358095:exon4:c.T1070A:p.I357N;	0.00234954535167801	0.064
18	30314209	C	A	18	32734246	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000358095:exon5:c.1070-1G>T)	.	.	3.69930370103191E-5	0.0
18	30314209	C	G	18	32734246	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000358095:exon5:c.1070-1G>C)	.	.	3.69930370103191E-5	0.0
18	30314209	C	T	18	32734246	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000358095:exon5:c.1070-1G>A)	.	.	3.69930370103191E-5	0.0
18	30314210	T	A	18	32734247	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000358095:exon5:c.1070-2A>T)	.	.	1.06520082605731E-4	0.0
18	30314210	T	C	18	32734247	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000358095:exon5:c.1070-2A>G)	.	.	5.86075475573093E-5	0.0
18	30314210	T	G	18	32734247	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000358095:exon5:c.1070-2A>C)	.	.	5.86075475573093E-5	0.0
18	30314211	G	A	18	32734248	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.27456659313109E-5	0.0
18	30314211	G	C	18	32734248	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.72760553213487E-5	0.004
18	30314211	G	T	18	32734248	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	7.27456659313109E-5	0.006
18	30314212	A	C	18	32734249	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.38118228050303E-4	0.006
18	30314212	A	G	18	32734249	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.38118228050303E-4	0.006
18	30314212	A	T	18	32734249	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.38118228050303E-4	0.006
18	30314213	G	A	18	32734250	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.15042193520174E-5	0.006
18	30314213	G	C	18	32734250	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.64259127652368E-5	0.004
18	30314213	G	T	18	32734250	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.15042193520174E-5	0.006
18	30314214	A	C	18	32734251	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.35513354136389E-5	0.008
18	30314214	A	G	18	32734251	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.35513354136389E-5	0.008
18	30314214	A	T	18	32734251	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.35513354136389E-5	0.008
18	30314215	A	C	18	32734252	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.67738868662274E-5	0.016
18	30314215	A	G	18	32734252	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.67738868662274E-5	0.0
18	30314215	A	T	18	32734252	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.67738868662274E-5	0.0
18	30314216	G	A	18	32734253	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.6749898621544E-5	0.0
18	30314216	G	C	18	32734253	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.6749898621544E-5	0.0
18	30314216	G	T	18	32734253	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.6749898621544E-5	0.0
18	30314217	A	C	18	32734254	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.16979026867853E-4	0.01
18	30314217	A	G	18	32734254	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.16979026867853E-4	0.01
18	30314217	A	T	18	32734254	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.38118228050303E-4	0.01
18	30314218	A	C	18	32734255	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.96404089075045E-5	0.004
18	30314218	A	G	18	32734255	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.96404089075045E-5	0.004
18	30314218	A	T	18	32734255	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.38731564659595E-5	0.002
18	30314219	A	C	18	32734256	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.03359245426808E-5	0.032
18	30314219	A	G	18	32734256	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.03359245426808E-5	0.032
18	30314219	A	T	18	32734256	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.03359245426808E-5	0.032
18	30314220	T	A	18	32734257	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.31929338280547E-5	0.004
18	30314220	T	C	18	32734257	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.07620641825897E-5	0.0
18	30314220	T	G	18	32734257	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	3.07620641825897E-5	0.0
18	30321883	G	A	18	32741920	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.98946793018657E-5	0.016
18	30321883	G	C	18	32741920	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.98946793018657E-5	0.008
18	30321883	G	T	18	32741920	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.45892698382496E-5	0.008
18	30321884	C	A	18	32741921	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00490677755210756	0.034
18	30321884	C	G	18	32741921	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00175474677686425	0.014
18	30321884	C	T	18	32741921	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00175474677686425	0.014
18	30321885	A	C	18	32741922	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.95029986491039	0.662
18	30321885	A	G	18	32741922	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.968577213494964	0.632
18	30321885	A	T	18	32741922	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.994607847185243	0.746
18	30321886	C	A	18	32741923	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999986419357034	0.95
18	30321886	C	G	18	32741923	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999965277921026	0.958
18	30321886	C	T	18	32741923	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999943882189277	0.944
18	30321887	T	A	18	32741924	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.99557145952994	0.822
18	30321887	T	C	18	32741924	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.998936861199205	0.856
18	30321887	T	G	18	32741924	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.978471762440877	0.746
18	30321888	C	A	18	32741925	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.95267909243011	0.65
18	30321888	C	G	18	32741925	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.990411992641116	0.71
18	30321888	C	T	18	32741925	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.3001051567615E-4	0.004
18	30321889	A	C	18	32741926	y	y	splicing	KLHL14(NM_020805:exon4:c.1069+2T>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.1069+2T>G;ENST00000358095:exon4:c.1069+2T>G)	.	.	0.999988247793601	0.914
18	30321889	A	G	18	32741926	y	y	splicing	KLHL14(NM_020805:exon4:c.1069+2T>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.1069+2T>C;ENST00000358095:exon4:c.1069+2T>C)	.	.	0.999945827492243	0.858
18	30321889	A	T	18	32741926	y	y	splicing	KLHL14(NM_020805:exon4:c.1069+2T>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.1069+2T>A;ENST00000358095:exon4:c.1069+2T>A)	.	.	0.999988247793601	0.928
18	30321890	C	A	18	32741927	y	y	splicing	KLHL14(NM_020805:exon4:c.1069+1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.1069+1G>T;ENST00000358095:exon4:c.1069+1G>T)	.	.	0.999990361384395	0.936
18	30321890	C	G	18	32741927	y	y	splicing	KLHL14(NM_020805:exon4:c.1069+1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.1069+1G>C;ENST00000358095:exon4:c.1069+1G>C)	.	.	0.999990361384395	0.936
18	30321890	C	T	18	32741927	y	y	splicing	KLHL14(NM_020805:exon4:c.1069+1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.1069+1G>A;ENST00000358095:exon4:c.1069+1G>A)	.	.	0.999990361384395	0.936
18	30321891	T	A	18	32741928	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.A1069T:p.I357F;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A1069T:p.I357F;ENSG00000197705:ENST00000358095:exon3:c.A1069T:p.I357F;	0.955824009380702	0.662
18	30321891	T	C	18	32741928	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.A1069G:p.I357V;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A1069G:p.I357V;ENSG00000197705:ENST00000358095:exon3:c.A1069G:p.I357V;	0.00490329790425965	0.076
18	30321891	T	G	18	32741928	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.A1069C:p.I357L;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A1069C:p.I357L;ENSG00000197705:ENST00000358095:exon3:c.A1069C:p.I357L;	0.801445867589996	0.684
18	30321892	T	A	18	32741929	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon3:c.A1068T:p.T356T;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A1068T:p.T356T;ENSG00000197705:ENST00000358095:exon3:c.A1068T:p.T356T;	0.124052578012686	0.512
18	30321892	T	C	18	32741929	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon3:c.A1068G:p.T356T;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A1068G:p.T356T;ENSG00000197705:ENST00000358095:exon3:c.A1068G:p.T356T;	0.0190199002715909	0.256
18	30321892	T	G	18	32741929	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon3:c.A1068C:p.T356T;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A1068C:p.T356T;ENSG00000197705:ENST00000358095:exon3:c.A1068C:p.T356T;	0.0204132439254678	0.36
18	30321893	G	A	18	32741930	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.C1067T:p.T356I;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.C1067T:p.T356I;ENSG00000197705:ENST00000358095:exon3:c.C1067T:p.T356I;	0.999144645939477	0.95
18	30321893	G	C	18	32741930	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.C1067G:p.T356R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.C1067G:p.T356R;ENSG00000197705:ENST00000358095:exon3:c.C1067G:p.T356R;	0.960329230829392	0.668
18	30321893	G	T	18	32741930	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.C1067A:p.T356K;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.C1067A:p.T356K;ENSG00000197705:ENST00000358095:exon3:c.C1067A:p.T356K;	0.968971445684744	0.772
18	30322011	T	A	18	32742048	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.A949T:p.I317F;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A949T:p.I317F;ENSG00000197705:ENST00000358095:exon3:c.A949T:p.I317F;	0.725801261679457	0.686
18	30322011	T	C	18	32742048	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.A949G:p.I317V;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A949G:p.I317V;ENSG00000197705:ENST00000358095:exon3:c.A949G:p.I317V;	0.0034900625279697	0.124
18	30322011	T	G	18	32742048	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.A949C:p.I317L;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A949C:p.I317L;ENSG00000197705:ENST00000358095:exon3:c.A949C:p.I317L;	0.667402441220529	0.592
18	30322012	T	A	18	32742049	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.A948T:p.R316S;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A948T:p.R316S;ENSG00000197705:ENST00000358095:exon3:c.A948T:p.R316S;	0.0136357064597259	0.09
18	30322012	T	C	18	32742049	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon3:c.A948G:p.R316R;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A948G:p.R316R;ENSG00000197705:ENST00000358095:exon3:c.A948G:p.R316R;	7.26121570608074E-4	0.07
18	30322012	T	G	18	32742049	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon3:c.A948C:p.R316S;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon3:c.A948C:p.R316S;ENSG00000197705:ENST00000358095:exon3:c.A948C:p.R316S;	0.00124439609372523	0.088
18	30322013	C	A	18	32742050	y	y	splicing	KLHL14(NM_020805:exon4:c.948-1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.948-1G>T;ENST00000358095:exon4:c.948-1G>T)	.	.	0.999989295765589	0.906
18	30322013	C	G	18	32742050	y	y	splicing	KLHL14(NM_020805:exon4:c.948-1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.948-1G>C;ENST00000358095:exon4:c.948-1G>C)	.	.	0.999989295765589	0.906
18	30322013	C	T	18	32742050	y	y	splicing	KLHL14(NM_020805:exon4:c.948-1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.948-1G>A;ENST00000358095:exon4:c.948-1G>A)	.	.	0.999989295765589	0.906
18	30322014	T	A	18	32742051	y	y	splicing	KLHL14(NM_020805:exon4:c.948-2A>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.948-2A>T;ENST00000358095:exon4:c.948-2A>T)	.	.	0.999952590261929	0.912
18	30322014	T	C	18	32742051	y	y	splicing	KLHL14(NM_020805:exon4:c.948-2A>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.948-2A>G;ENST00000358095:exon4:c.948-2A>G)	.	.	0.999952590261929	0.908
18	30322014	T	G	18	32742051	y	y	splicing	KLHL14(NM_020805:exon4:c.948-2A>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon4:c.948-2A>C;ENST00000358095:exon4:c.948-2A>C)	.	.	0.999952590261929	0.906
18	30322015	T	A	18	32742052	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00127111553901669	0.058
18	30322015	T	C	18	32742052	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.135454822289828	0.386
18	30322015	T	G	18	32742052	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	2.78032275924786E-4	0.072
18	30322016	C	A	18	32742053	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00985594225743864	0.146
18	30322016	C	G	18	32742053	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0054838645847701	0.178
18	30322016	C	T	18	32742053	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00823855805164805	0.22
18	30322017	A	C	18	32742054	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.992851540528412	0.726
18	30322017	A	G	18	32742054	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00771499010349892	0.24
18	30322017	A	T	18	32742054	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999751693184197	0.94
18	30322018	C	A	18	32742055	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00154015097807571	0.074
18	30322018	C	G	18	32742055	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00229027079931118	0.124
18	30322018	C	T	18	32742055	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.0277229298713249	0.172
18	30322019	C	A	18	32742056	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00250040194139786	0.092
18	30322019	C	G	18	32742056	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00250040194139786	0.092
18	30322019	C	T	18	32742056	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999615119668546	0.934
18	30322020	C	A	18	32742057	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00182131090104346	0.088
18	30322020	C	G	18	32742057	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00154015097807571	0.07
18	30322020	C	T	18	32742057	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999689664753093	0.964
18	30322021	A	C	18	32742058	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.997782083550448	0.794
18	30322021	A	G	18	32742058	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.527696343488466	0.504
18	30322021	A	T	18	32742058	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999946032780883	0.956
18	30322022	A	C	18	32742059	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.998798783229931	0.896
18	30322022	A	G	18	32742059	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.659408094953463	0.534
18	30322022	A	T	18	32742059	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.998771947893997	0.892
18	30322023	A	C	18	32742060	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.996104783132474	0.862
18	30322023	A	G	18	32742060	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.994430339549278	0.768
18	30322023	A	T	18	32742060	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999296670753835	0.932
18	30322024	A	C	18	32742061	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999098559996811	0.886
18	30322024	A	G	18	32742061	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.466842499642077	0.544
18	30322024	A	T	18	32742061	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.999280999857478	0.898
18	30349600	T	A	18	32769637	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00134993792336951	0.032
18	30349600	T	C	18	32769637	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	6.91431711831421E-4	0.018
18	30349600	T	G	18	32769637	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00134993792336951	0.024
18	30349601	C	A	18	32769638	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	8.41113198633683E-4	0.038
18	30349601	C	G	18	32769638	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	8.41113198633683E-4	0.03
18	30349601	C	T	18	32769638	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.00251515808134513	0.074
18	30349602	T	A	18	32769639	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	9.94113550235865E-6	0.0
18	30349602	T	C	18	32769639	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.8914481678375E-5	0.0
18	30349602	T	G	18	32769639	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.57010674602006E-5	0.01
18	30349603	C	A	18	32769640	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.998617478817453	0.684
18	30349603	C	G	18	32769640	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.993912852032105	0.644
18	30349603	C	T	18	32769640	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.540283666357121	0.45
18	30349604	C	A	18	32769641	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	5.62326095138307E-5	0.02
18	30349604	C	G	18	32769641	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	4.44236825213621E-5	0.012
18	30349604	C	T	18	32769641	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	1.93259608012378E-4	0.024
18	30349605	T	A	18	32769642	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.924014840936422	0.628
18	30349605	T	C	18	32769642	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.137976420220146	0.298
18	30349605	T	G	18	32769642	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705	.	.	0.955472947755147	0.632
18	30349606	A	C	18	32769643	y	y	splicing	KLHL14(NM_020805:exon3:c.947+2T>G)	.	.	splicing	ENSG00000197705(ENST00000359358:exon3:c.947+2T>G;ENST00000358095:exon3:c.947+2T>G)	.	.	0.999974045756012	0.742
18	30349606	A	G	18	32769643	y	y	splicing	KLHL14(NM_020805:exon3:c.947+2T>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon3:c.947+2T>C;ENST00000358095:exon3:c.947+2T>C)	.	.	0.731589188380433	0.478
18	30349606	A	T	18	32769643	y	y	splicing	KLHL14(NM_020805:exon3:c.947+2T>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon3:c.947+2T>A;ENST00000358095:exon3:c.947+2T>A)	.	.	0.999974045756012	0.74
18	30349607	C	A	18	32769644	y	y	splicing	KLHL14(NM_020805:exon3:c.947+1G>T)	.	.	splicing	ENSG00000197705(ENST00000359358:exon3:c.947+1G>T;ENST00000358095:exon3:c.947+1G>T)	.	.	0.999937877140512	0.658
18	30349607	C	G	18	32769644	y	y	splicing	KLHL14(NM_020805:exon3:c.947+1G>C)	.	.	splicing	ENSG00000197705(ENST00000359358:exon3:c.947+1G>C;ENST00000358095:exon3:c.947+1G>C)	.	.	0.999937877140512	0.672
18	30349607	C	T	18	32769644	y	y	splicing	KLHL14(NM_020805:exon3:c.947+1G>A)	.	.	splicing	ENSG00000197705(ENST00000359358:exon3:c.947+1G>A;ENST00000358095:exon3:c.947+1G>A)	.	.	0.999937877140512	0.652
18	30349608	C	A	18	32769645	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon2:c.G947T:p.R316I;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon2:c.G947T:p.R316I;ENSG00000197705:ENST00000358095:exon2:c.G947T:p.R316I;	0.999159884998538	0.9
18	30349608	C	G	18	32769645	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon2:c.G947C:p.R316T;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon2:c.G947C:p.R316T;ENSG00000197705:ENST00000358095:exon2:c.G947C:p.R316T;	0.99717398143773	0.846
18	30349608	C	T	18	32769645	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon2:c.G947A:p.R316K;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon2:c.G947A:p.R316K;ENSG00000197705:ENST00000358095:exon2:c.G947A:p.R316K;	0.980675600656085	0.878
18	30349609	T	A	18	32769646	y	y	exonic	KLHL14	stopgain SNV	KLHL14:NM_020805:exon2:c.A946T:p.R316X;	exonic	ENSG00000197705	stopgain SNV	ENSG00000197705:ENST00000359358:exon2:c.A946T:p.R316X;ENSG00000197705:ENST00000358095:exon2:c.A946T:p.R316X;	0.998579054827962	0.878
18	30349609	T	C	18	32769646	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon2:c.A946G:p.R316G;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon2:c.A946G:p.R316G;ENSG00000197705:ENST00000358095:exon2:c.A946G:p.R316G;	0.625441591360262	0.576
18	30349609	T	G	18	32769646	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon2:c.A946C:p.R316R;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon2:c.A946C:p.R316R;ENSG00000197705:ENST00000358095:exon2:c.A946C:p.R316R;	0.110949953050779	0.53
18	30349610	G	A	18	32769647	y	y	exonic	KLHL14	synonymous SNV	KLHL14:NM_020805:exon2:c.C945T:p.S315S;	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000359358:exon2:c.C945T:p.S315S;ENSG00000197705:ENST00000358095:exon2:c.C945T:p.S315S;	0.675252562944213	0.546
18	30349610	G	C	18	32769647	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon2:c.C945G:p.S315R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon2:c.C945G:p.S315R;ENSG00000197705:ENST00000358095:exon2:c.C945G:p.S315R;	0.0133378021305254	0.26
18	30349610	G	T	18	32769647	y	y	exonic	KLHL14	nonsynonymous SNV	KLHL14:NM_020805:exon2:c.C945A:p.S315R;	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000359358:exon2:c.C945A:p.S315R;ENSG00000197705:ENST00000358095:exon2:c.C945A:p.S315R;	0.00684231921736897	0.094
18	30350596	A	C	18	32770633	y	y	UTR5	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon2:c.T40G:p.L14V;	0.0076694849409892	0.078
18	30350596	A	G	18	32770633	y	y	UTR5	KLHL14	.	.	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000583263:exon2:c.T40C:p.L14L;	0.0127865290063519	0.168
18	30350596	A	T	18	32770633	y	y	UTR5	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon2:c.T40A:p.L14M;	0.00777235648474528	0.042
18	30350597	C	A	18	32770634	y	y	UTR5	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon2:c.G39T:p.R13S;	0.369593393451551	0.528
18	30350597	C	G	18	32770634	y	y	UTR5	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon2:c.G39C:p.R13S;	0.472557960514328	0.57
18	30350597	C	T	18	32770634	y	y	UTR5	KLHL14	.	.	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000583263:exon2:c.G39A:p.R13R;	0.631770223677675	0.53
18	30350598	C	A	18	32770635	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon3:c.39-1G>T)	.	.	0.99994568797423	0.946
18	30350598	C	G	18	32770635	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon3:c.39-1G>C)	.	.	0.999946188727699	0.948
18	30350598	C	T	18	32770635	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon3:c.39-1G>A)	.	.	0.99994568797423	0.946
18	30350599	T	A	18	32770636	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon3:c.39-2A>T)	.	.	0.999988781533968	0.934
18	30350599	T	C	18	32770636	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon3:c.39-2A>G)	.	.	0.999988390207502	0.912
18	30350599	T	G	18	32770636	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon3:c.39-2A>C)	.	.	0.999988390207502	0.914
18	30350600	G	A	18	32770637	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0110583019284236	0.212
18	30350600	G	C	18	32770637	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.98916324478774	0.868
18	30350600	G	T	18	32770637	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.87945784613594	0.76
18	30350601	G	A	18	32770638	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00125582094395219	0.044
18	30350601	G	C	18	32770638	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.66715634024874E-4	0.032
18	30350601	G	T	18	32770638	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00125582094395219	0.052
18	30350602	C	A	18	32770639	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	3.98101731636874E-4	0.016
18	30350602	C	G	18	32770639	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00138442647225972	0.01
18	30350602	C	T	18	32770639	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00190109367137071	0.018
18	30350603	A	C	18	32770640	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.833465362633962	0.518
18	30350603	A	G	18	32770640	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	7.92833859428952E-4	0.03
18	30350603	A	T	18	32770640	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.999941522176009	0.97
18	30350604	G	A	18	32770641	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	3.02367759993238E-4	0.064
18	30350604	G	C	18	32770641	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.199763045924441	0.214
18	30350604	G	T	18	32770641	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0680246631753697	0.248
18	30350605	A	C	18	32770642	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.521528743926937	0.48
18	30350605	A	G	18	32770642	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00577697264532287	0.094
18	30350605	A	T	18	32770642	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.518460904455251	0.44
18	30350606	C	A	18	32770643	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	7.27158403356776E-4	0.02
18	30350606	C	G	18	32770643	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00255270807008416	0.018
18	30350606	C	T	18	32770643	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00212996434939061	0.106
18	30350607	A	C	18	32770644	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.77434967731569	0.514
18	30350607	A	G	18	32770644	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	4.18962245097988E-4	0.042
18	30350607	A	T	18	32770644	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.999981220502427	0.982
18	30350608	G	A	18	32770645	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.64770842121153E-4	0.004
18	30350608	G	C	18	32770645	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00131681456688573	0.058
18	30350608	G	T	18	32770645	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	7.38195851247506E-4	0.044
18	30350609	G	A	18	32770646	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.39085450953723E-4	0.004
18	30350609	G	C	18	32770646	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0228532723886967	0.202
18	30350609	G	T	18	32770646	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.031057643994365	0.222
18	30350905	G	A	18	32770942	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.05746745428764E-5	0.002
18	30350905	G	C	18	32770942	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.05746745428764E-5	0.002
18	30350905	G	T	18	32770942	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.05746745428764E-5	0.002
18	30350906	G	A	18	32770943	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	6.58928398576996E-5	0.046
18	30350906	G	C	18	32770943	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	6.58928398576996E-5	0.044
18	30350906	G	T	18	32770943	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	6.58928398576996E-5	0.046
18	30350907	C	A	18	32770944	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	5.83286272517013E-4	0.034
18	30350907	C	G	18	32770944	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	5.83286272517013E-4	0.034
18	30350907	C	T	18	32770944	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	5.83286272517013E-4	0.034
18	30350908	T	A	18	32770945	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.08325633601962E-5	0.004
18	30350908	T	C	18	32770945	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.08325633601962E-5	0.004
18	30350908	T	G	18	32770945	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.08325633601962E-5	0.004
18	30350909	G	A	18	32770946	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.70401990492453E-5	0.044
18	30350909	G	C	18	32770946	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.70401990492453E-5	0.026
18	30350909	G	T	18	32770946	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.70401990492453E-5	0.026
18	30350910	T	A	18	32770947	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.09571479724368E-5	0.088
18	30350910	T	C	18	32770947	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.09571479724368E-5	0.088
18	30350910	T	G	18	32770947	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.09571479724368E-5	0.088
18	30350911	T	A	18	32770948	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.16657811451597E-5	0.008
18	30350911	T	C	18	32770948	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.96532199348666E-5	0.016
18	30350911	T	G	18	32770948	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	2.96532199348666E-5	0.014
18	30350912	G	A	18	32770949	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.038
18	30350912	G	C	18	32770949	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.034
18	30350912	G	T	18	32770949	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.038
18	30350913	G	A	18	32770950	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.038
18	30350913	G	C	18	32770950	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.038
18	30350913	G	T	18	32770950	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.038
18	30350914	C	A	18	32770951	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.038
18	30350914	C	G	18	32770951	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.038
18	30350914	C	T	18	32770951	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.00692295279319E-4	0.038
18	30350915	A	C	18	32770952	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.159-2A>C)	.	.	2.2384227091578E-5	0.004
18	30350915	A	G	18	32770952	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.159-2A>G)	.	.	2.2384227091578E-5	0.004
18	30350915	A	T	18	32770952	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.159-2A>T)	.	.	2.2384227091578E-5	0.004
18	30350916	G	A	18	32770953	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.159-1G>A)	.	.	2.41558647023099E-4	0.052
18	30350916	G	C	18	32770953	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.159-1G>C)	.	.	2.41558647023099E-4	0.032
18	30350916	G	T	18	32770953	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.159-1G>T)	.	.	2.41558647023099E-4	0.034
18	30350917	C	A	18	32770954	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.C159A:p.S53R;	0.00165237287629178	0.024
18	30350917	C	G	18	32770954	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.C159G:p.S53R;	0.00165237287629178	0.024
18	30350917	C	T	18	32770954	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.C159T:p.S53S;	0.00213534205911748	0.052
18	30350918	A	C	18	32770955	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.A160C:p.N54H;	2.68219155180855E-5	0.0
18	30350918	A	G	18	32770955	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.A160G:p.N54D;	2.68219155180855E-5	0.0
18	30350918	A	T	18	32770955	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.A160T:p.N54Y;	2.68219155180855E-5	0.0
18	30351069	C	A	18	32771106	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.C311A:p.P104Q;	0.00159768776626643	0.046
18	30351069	C	G	18	32771106	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.C311G:p.P104R;	0.00213534205911748	0.034
18	30351069	C	T	18	32771106	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.C311T:p.P104L;	0.00159768776626643	0.02
18	30351070	A	C	18	32771107	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.A312C:p.P104P;	9.28207984957438E-5	0.0
18	30351070	A	G	18	32771107	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.A312G:p.P104P;	9.28207984957438E-5	0.0
18	30351070	A	T	18	32771107	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.A312T:p.P104P;	9.28207984957438E-5	0.0
18	30351071	G	A	18	32771108	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.G313A:p.G105R;	0.00644672809221788	0.008
18	30351071	G	C	18	32771108	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.G313C:p.G105R;	0.00644672809221788	0.012
18	30351071	G	T	18	32771108	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon2:c.G313T:p.G105W;	0.00337291445926674	0.01
18	30351072	G	A	18	32771109	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.313+1G>A)	.	.	3.35115461238441E-4	0.0
18	30351072	G	C	18	32771109	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.313+1G>C)	.	.	1.80650664972837E-4	0.0
18	30351072	G	T	18	32771109	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.313+1G>T)	.	.	3.35115461238441E-4	0.0
18	30351073	T	A	18	32771110	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.313+2T>A)	.	.	1.06602690930623E-4	0.018
18	30351073	T	C	18	32771110	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.313+2T>C)	.	.	1.06602690930623E-4	0.018
18	30351073	T	G	18	32771110	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon2:c.313+2T>G)	.	.	1.06602690930623E-4	0.018
18	30351074	C	A	18	32771111	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00159768776626643	0.02
18	30351074	C	G	18	32771111	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00159768776626643	0.018
18	30351074	C	T	18	32771111	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.91285852394238E-4	0.02
18	30351075	A	C	18	32771112	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.0277112571666E-4	0.024
18	30351075	A	G	18	32771112	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.0277112571666E-4	0.024
18	30351075	A	T	18	32771112	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	9.0277112571666E-4	0.024
18	30351076	A	C	18	32771113	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	1.04434950096152E-4	0.022
18	30351076	A	G	18	32771113	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	1.04434950096152E-4	0.022
18	30351076	A	T	18	32771113	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	1.04434950096152E-4	0.022
18	30351077	C	A	18	32771114	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00159768776626643	0.02
18	30351077	C	G	18	32771114	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00159768776626643	0.02
18	30351077	C	T	18	32771114	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00159768776626643	0.018
18	30351078	T	A	18	32771115	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.72872318312541E-4	0.024
18	30351078	T	C	18	32771115	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.72872318312541E-4	0.022
18	30351078	T	G	18	32771115	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	8.72872318312541E-4	0.022
18	30351079	T	A	18	32771116	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	1.99153316237132E-5	0.002
18	30351079	T	C	18	32771116	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	1.99153316237132E-5	0.002
18	30351079	T	G	18	32771116	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	1.99153316237132E-5	0.002
18	30352002	A	C	18	32772039	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00246951062688554	0.092
18	30352002	A	G	18	32772039	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00246951062688554	0.09
18	30352002	A	T	18	32772039	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00663735135764187	0.054
18	30352003	A	C	18	32772040	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.123296871277336	0.378
18	30352003	A	G	18	32772040	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0651162484089203	0.362
18	30352003	A	T	18	32772040	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.170286588963292	0.486
18	30352004	T	A	18	32772041	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0251573007428338	0.264
18	30352004	T	C	18	32772041	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0182923226421528	0.15
18	30352004	T	G	18	32772041	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0182923226421528	0.15
18	30352005	T	A	18	32772042	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00663735135764187	0.054
18	30352005	T	C	18	32772042	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00246951062688554	0.076
18	30352005	T	G	18	32772042	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00246951062688554	0.08
18	30352006	G	A	18	32772043	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	3.94081116995207E-4	0.012
18	30352006	G	C	18	32772043	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	3.94081116995207E-4	0.01
18	30352006	G	T	18	32772043	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	3.94081116995207E-4	0.01
18	30352007	C	A	18	32772044	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.073866101532437	0.48
18	30352007	C	G	18	32772044	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.073866101532437	0.388
18	30352007	C	T	18	32772044	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.193921386772729	0.468
18	30352008	A	C	18	32772045	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon2:c.38+2T>G)	.	.	0.0336702686191457	0.142
18	30352008	A	G	18	32772045	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon2:c.38+2T>C)	.	.	0.0336702686191457	0.144
18	30352008	A	T	18	32772045	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon2:c.38+2T>A)	.	.	0.0377518144755523	0.164
18	30352009	C	A	18	32772046	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon2:c.38+1G>T)	.	.	0.472163819096074	0.724
18	30352009	C	G	18	32772046	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon2:c.38+1G>C)	.	.	0.444825136280068	0.71
18	30352009	C	T	18	32772046	n	y	intronic	KLHL14	.	.	splicing	ENSG00000197705(ENST00000583263:exon2:c.38+1G>A)	.	.	0.512358031004333	0.734
18	30352010	C	A	18	32772047	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.G38T:p.R13M;	3.94081116995207E-4	0.01
18	30352010	C	G	18	32772047	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.G38C:p.R13T;	4.35658515895286E-4	0.016
18	30352010	C	T	18	32772047	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.G38A:p.R13K;	3.94081116995207E-4	0.01
18	30352011	T	A	18	32772048	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.A37T:p.R13W;	0.0651162484089203	0.322
18	30352011	T	C	18	32772048	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	nonsynonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.A37G:p.R13G;	0.0454481723507499	0.348
18	30352011	T	G	18	32772048	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.A37C:p.R13R;	0.384383690051132	0.56
18	30352012	T	A	18	32772049	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.A36T:p.G12G;	0.0189556163617221	0.138
18	30352012	T	C	18	32772049	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.A36G:p.G12G;	0.00753893832478311	0.076
18	30352012	T	G	18	32772049	n	y	intronic	KLHL14	.	.	exonic	ENSG00000197705	synonymous SNV	ENSG00000197705:ENST00000583263:exon1:c.A36C:p.G12G;	0.0096566305645987	0.086
18	30352248	C	A	18	32772285	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.C545A:p.P182Q;	0.00165237287629178	0.03
18	30352248	C	G	18	32772285	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.C545G:p.P182R;	8.91285852394238E-4	0.03
18	30352248	C	T	18	32772285	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.C545T:p.P182L;	0.00219751257899389	0.03
18	30352249	A	C	18	32772286	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.A546C:p.P182P;	0.00324533433619169	0.03
18	30352249	A	G	18	32772286	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.A546G:p.P182P;	0.00324533433619169	0.03
18	30352249	A	T	18	32772286	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.A546T:p.P182P;	0.00324533433619169	0.042
18	30352250	G	A	18	32772287	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.G547A:p.G183S;	0.0289772872915353	0.048
18	30352250	G	C	18	32772287	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.G547C:p.G183R;	0.0106228908163107	0.026
18	30352250	G	T	18	32772287	n	y	intronic	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon3:c.G547T:p.G183C;	0.00951067369662903	0.022
18	30352251	G	A	18	32772288	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon3:c.547+1G>A)	.	.	0.0712487792249388	0.182
18	30352251	G	C	18	32772288	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon3:c.547+1G>C)	.	.	0.0390415684708475	0.1
18	30352251	G	T	18	32772288	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon3:c.547+1G>T)	.	.	0.0465305565934788	0.166
18	30352252	T	A	18	32772289	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon3:c.547+2T>A)	.	.	5.64959192977057E-4	0.022
18	30352252	T	C	18	32772289	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon3:c.547+2T>C)	.	.	6.22713694468671E-4	0.024
18	30352252	T	G	18	32772289	n	y	intronic	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon3:c.547+2T>G)	.	.	6.22713694468671E-4	0.026
18	30352253	G	A	18	32772290	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00951067369662903	0.018
18	30352253	G	C	18	32772290	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00951067369662903	0.016
18	30352253	G	T	18	32772290	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00951067369662903	0.02
18	30352254	G	A	18	32772291	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0106228908163107	0.03
18	30352254	G	C	18	32772291	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0106228908163107	0.02
18	30352254	G	T	18	32772291	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0106228908163107	0.024
18	30352255	A	C	18	32772292	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	4.8934588815259E-4	0.018
18	30352255	A	G	18	32772292	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	4.8934588815259E-4	0.022
18	30352255	A	T	18	32772292	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	4.84257538425367E-4	0.032
18	30352256	C	A	18	32772293	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00533331416659597	0.016
18	30352256	C	G	18	32772293	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00533331416659597	0.02
18	30352256	C	T	18	32772293	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00595995325855957	0.018
18	30352257	C	A	18	32772294	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00951067369662903	0.016
18	30352257	C	G	18	32772294	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00644672809221788	0.024
18	30352257	C	T	18	32772294	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00951067369662903	0.024
18	30352258	C	A	18	32772295	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00644672809221788	0.016
18	30352258	C	G	18	32772295	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00644672809221788	0.022
18	30352258	C	T	18	32772295	n	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00644672809221788	0.016
18	30352622	A	C	18	32772659	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00464429886053217	0.016
18	30352622	A	G	18	32772659	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00455550459124179	0.02
18	30352622	A	T	18	32772659	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00464429886053217	0.026
18	30352623	A	C	18	32772660	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00455550459124179	0.02
18	30352623	A	G	18	32772660	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00455550459124179	0.022
18	30352623	A	T	18	32772660	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.00464429886053217	0.022
18	30352624	A	C	18	32772661	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0421636591357877	0.192
18	30352624	A	G	18	32772661	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.415197609366043	0.34
18	30352624	A	T	18	32772661	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.21650822320526	0.318
18	30352625	C	A	18	32772662	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.955172859349507	0.64
18	30352625	C	G	18	32772662	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.767522207411227	0.544
18	30352625	C	T	18	32772662	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.908003123408462	0.65
18	30352626	T	A	18	32772663	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.632476628225848	0.494
18	30352626	T	C	18	32772663	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.439988097394178	0.494
18	30352626	T	G	18	32772663	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.384733580432015	0.538
18	30352627	T	A	18	32772664	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.78445958837463	0.574
18	30352627	T	C	18	32772664	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.0543891759195478	0.13
18	30352627	T	G	18	32772664	y	y	intronic	KLHL14	.	.	intronic	ENSG00000197705;ENSG00000228835	.	.	0.829761419835651	0.568
18	30352628	A	C	18	32772665	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705	.	.	0.999966203349492	0.93
18	30352628	A	G	18	32772665	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705	.	.	0.987743803343	0.648
18	30352628	A	T	18	32772665	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705	.	.	0.999966203349492	0.928
18	30352629	C	A	18	32772666	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705	.	.	0.999916487880886	0.958
18	30352629	C	G	18	32772666	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705	.	.	0.999916487880886	0.956
18	30352629	C	T	18	32772666	y	y	splicing	KLHL14	.	.	splicing	ENSG00000197705	.	.	0.999915710762489	0.958
18	30352630	C	A	18	32772667	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.605709224456901	0.49
18	30352630	C	G	18	32772667	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.646144284028328	0.442
18	30352630	C	T	18	32772667	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.474862639998075	0.426
18	30352631	T	A	18	32772668	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.486320323936907	0.502
18	30352631	T	C	18	32772668	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.553757065405554	0.406
18	30352631	T	G	18	32772668	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.598953760759341	0.532
18	30352632	G	A	18	32772669	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.281936132920569	0.32
18	30352632	G	C	18	32772669	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.00628875404316766	0.076
18	30352632	G	T	18	32772669	y	y	UTR5	KLHL14	.	.	UTR5	ENSG00000197705	.	.	0.00690437144425939	0.08
18	30353266	C	A	18	32773303	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.00658407000573844	0.032
18	30353266	C	G	18	32773303	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.00658407000573844	0.032
18	30353266	C	T	18	32773303	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.034
18	30353267	T	A	18	32773304	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.042
18	30353267	T	C	18	32773304	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.044
18	30353267	T	G	18	32773304	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.034
18	30353268	G	A	18	32773305	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.00658407000573844	0.036
18	30353268	G	C	18	32773305	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.00658407000573844	0.032
18	30353268	G	T	18	32773305	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.00658407000573844	0.032
18	30353269	C	A	18	32773306	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.034
18	30353269	C	G	18	32773306	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.038
18	30353269	C	T	18	32773306	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.00990096792892162	0.036
18	30353270	C	A	18	32773307	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.042
18	30353270	C	G	18	32773307	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.034
18	30353270	C	T	18	32773307	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.036
18	30353271	T	A	18	32773308	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.036
18	30353271	T	C	18	32773308	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.024
18	30353271	T	G	18	32773308	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.028
18	30353272	T	A	18	32773309	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.036
18	30353272	T	C	18	32773309	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.026
18	30353272	T	G	18	32773309	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.028
18	30353273	C	A	18	32773310	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.04
18	30353273	C	G	18	32773310	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.036
18	30353273	C	T	18	32773310	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.036
18	30353274	A	C	18	32773311	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.028
18	30353274	A	G	18	32773311	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.026
18	30353274	A	T	18	32773311	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0077465894058046	0.036
18	30353275	C	A	18	32773312	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.038
18	30353275	C	G	18	32773312	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.0097126521921884	0.036
18	30353275	C	T	18	32773312	n	y	upstream	KLHL14	.	.	intronic	ENSG00000228835	.	.	0.00990096792892162	0.036
18	30353276	A	C	18	32773313	n	y	upstream	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon4:c.548-2A>C)	.	.	0.344710730614268	0.484
18	30353276	A	G	18	32773313	n	y	upstream	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon4:c.548-2A>G)	.	.	0.344710730614268	0.484
18	30353276	A	T	18	32773313	n	y	upstream	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon4:c.548-2A>T)	.	.	0.434283556364351	0.608
18	30353277	G	A	18	32773314	n	y	upstream	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon4:c.548-1G>A)	.	.	0.936803018742874	0.728
18	30353277	G	C	18	32773314	n	y	upstream	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon4:c.548-1G>C)	.	.	0.866552326028246	0.686
18	30353277	G	T	18	32773314	n	y	upstream	KLHL14	.	.	splicing	ENSG00000228835(ENST00000426194:exon4:c.548-1G>T)	.	.	0.941210851568326	0.774
18	30353278	G	A	18	32773315	n	y	upstream	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon4:c.G548A:p.G183D;	2.6677381886052E-4	0.05
18	30353278	G	C	18	32773315	n	y	upstream	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon4:c.G548C:p.G183A;	2.63999221886734E-4	0.05
18	30353278	G	T	18	32773315	n	y	upstream	KLHL14	.	.	exonic	ENSG00000228835	nonsynonymous SNV	ENSG00000228835:ENST00000426194:exon4:c.G548T:p.G183V;	1.33901207668438E-4	0.052
18	30353279	C	A	18	32773316	n	y	upstream	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon4:c.C549A:p.G183G;	0.0097126521921884	0.042
18	30353279	C	G	18	32773316	n	y	upstream	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon4:c.C549G:p.G183G;	0.0097126521921884	0.034
18	30353279	C	T	18	32773316	n	y	upstream	KLHL14	.	.	exonic	ENSG00000228835	synonymous SNV	ENSG00000228835:ENST00000426194:exon4:c.C549T:p.G183G;	0.0097126521921884	0.036
18	30518054	T	A	18	32938090	y	n	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon22:c.A2525T:p.E842V;CCDC178:NM_198995:exon22:c.A2411T:p.E804V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon22:c.A2597T:p.E866V;ENSG00000166960:ENST00000402325:exon20:c.A2375T:p.E792V;ENSG00000166960:ENST00000583930:exon23:c.A2597T:p.E866V;ENSG00000166960:ENST00000581852:exon3:c.A140T:p.E47V;ENSG00000166960:ENST00000579916:exon7:c.A485T:p.E162V;ENSG00000166960:ENST00000383096:exon23:c.A2525T:p.E842V;ENSG00000166960:ENST00000300227:exon22:c.A2411T:p.E804V;ENSG00000166960:ENST00000403303:exon22:c.A2525T:p.E842V;ENSG00000166960:ENST00000581524:exon9:c.A1016T:p.E339V;	6.82407796027485E-4	0.002
18	30518054	T	C	18	32938090	y	n	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon22:c.A2525G:p.E842G;CCDC178:NM_198995:exon22:c.A2411G:p.E804G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon22:c.A2597G:p.E866G;ENSG00000166960:ENST00000402325:exon20:c.A2375G:p.E792G;ENSG00000166960:ENST00000583930:exon23:c.A2597G:p.E866G;ENSG00000166960:ENST00000581852:exon3:c.A140G:p.E47G;ENSG00000166960:ENST00000579916:exon7:c.A485G:p.E162G;ENSG00000166960:ENST00000383096:exon23:c.A2525G:p.E842G;ENSG00000166960:ENST00000300227:exon22:c.A2411G:p.E804G;ENSG00000166960:ENST00000403303:exon22:c.A2525G:p.E842G;ENSG00000166960:ENST00000581524:exon9:c.A1016G:p.E339G;	0.00222730642888696	0.014
18	30518054	T	G	18	32938090	y	n	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon22:c.A2525C:p.E842A;CCDC178:NM_198995:exon22:c.A2411C:p.E804A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon22:c.A2597C:p.E866A;ENSG00000166960:ENST00000402325:exon20:c.A2375C:p.E792A;ENSG00000166960:ENST00000583930:exon23:c.A2597C:p.E866A;ENSG00000166960:ENST00000581852:exon3:c.A140C:p.E47A;ENSG00000166960:ENST00000579916:exon7:c.A485C:p.E162A;ENSG00000166960:ENST00000383096:exon23:c.A2525C:p.E842A;ENSG00000166960:ENST00000300227:exon22:c.A2411C:p.E804A;ENSG00000166960:ENST00000403303:exon22:c.A2525C:p.E842A;ENSG00000166960:ENST00000581524:exon9:c.A1016C:p.E339A;	0.00198720741905839	0.018
18	30518055	C	A	18	32938091	y	n	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon22:c.G2524T:p.E842X;CCDC178:NM_198995:exon22:c.G2410T:p.E804X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon22:c.G2596T:p.E866X;ENSG00000166960:ENST00000402325:exon20:c.G2374T:p.E792X;ENSG00000166960:ENST00000583930:exon23:c.G2596T:p.E866X;ENSG00000166960:ENST00000581852:exon3:c.G139T:p.E47X;ENSG00000166960:ENST00000579916:exon7:c.G484T:p.E162X;ENSG00000166960:ENST00000383096:exon23:c.G2524T:p.E842X;ENSG00000166960:ENST00000300227:exon22:c.G2410T:p.E804X;ENSG00000166960:ENST00000403303:exon22:c.G2524T:p.E842X;ENSG00000166960:ENST00000581524:exon9:c.G1015T:p.E339X;	0.999928296506298	0.998
18	30518055	C	G	18	32938091	y	n	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon22:c.G2524C:p.E842Q;CCDC178:NM_198995:exon22:c.G2410C:p.E804Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon22:c.G2596C:p.E866Q;ENSG00000166960:ENST00000402325:exon20:c.G2374C:p.E792Q;ENSG00000166960:ENST00000583930:exon23:c.G2596C:p.E866Q;ENSG00000166960:ENST00000581852:exon3:c.G139C:p.E47Q;ENSG00000166960:ENST00000579916:exon7:c.G484C:p.E162Q;ENSG00000166960:ENST00000383096:exon23:c.G2524C:p.E842Q;ENSG00000166960:ENST00000300227:exon22:c.G2410C:p.E804Q;ENSG00000166960:ENST00000403303:exon22:c.G2524C:p.E842Q;ENSG00000166960:ENST00000581524:exon9:c.G1015C:p.E339Q;	0.979755544381627	0.812
18	30518055	C	T	18	32938091	y	n	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon22:c.G2524A:p.E842K;CCDC178:NM_198995:exon22:c.G2410A:p.E804K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon22:c.G2596A:p.E866K;ENSG00000166960:ENST00000402325:exon20:c.G2374A:p.E792K;ENSG00000166960:ENST00000583930:exon23:c.G2596A:p.E866K;ENSG00000166960:ENST00000581852:exon3:c.G139A:p.E47K;ENSG00000166960:ENST00000579916:exon7:c.G484A:p.E162K;ENSG00000166960:ENST00000383096:exon23:c.G2524A:p.E842K;ENSG00000166960:ENST00000300227:exon22:c.G2410A:p.E804K;ENSG00000166960:ENST00000403303:exon22:c.G2524A:p.E842K;ENSG00000166960:ENST00000581524:exon9:c.G1015A:p.E339K;	0.931122507441713	0.726
18	30518056	C	A	18	32938092	y	n	splicing	CCDC178(NM_001105528:exon23:c.2524-1G>T;NM_198995:exon23:c.2410-1G>T)	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999990361384395	0.948
18	30518056	C	G	18	32938092	y	n	splicing	CCDC178(NM_001105528:exon23:c.2524-1G>C;NM_198995:exon23:c.2410-1G>C)	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999990361384395	0.948
18	30518056	C	T	18	32938092	y	n	splicing	CCDC178(NM_001105528:exon23:c.2524-1G>A;NM_198995:exon23:c.2410-1G>A)	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999990361384395	0.948
18	30518057	T	A	18	32938093	y	n	splicing	CCDC178(NM_001105528:exon23:c.2524-2A>T;NM_198995:exon23:c.2410-2A>T)	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999988247793601	0.95
18	30518057	T	C	18	32938093	y	n	splicing	CCDC178(NM_001105528:exon23:c.2524-2A>G;NM_198995:exon23:c.2410-2A>G)	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999988247793601	0.95
18	30518057	T	G	18	32938093	y	n	splicing	CCDC178(NM_001105528:exon23:c.2524-2A>C;NM_198995:exon23:c.2410-2A>C)	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999988247793601	0.95
18	30518058	G	A	18	32938094	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.590448411705607	0.144
18	30518058	G	C	18	32938094	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999932365184278	0.99
18	30518058	G	T	18	32938094	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999848491777694	0.936
18	30518059	T	A	18	32938095	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.00469195796512745	0.084
18	30518059	T	C	18	32938095	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.989295963087636	0.706
18	30518059	T	G	18	32938095	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	2.78456844980186E-4	0.06
18	30518060	T	A	18	32938096	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	3.5760905494932E-4	0.038
18	30518060	T	C	18	32938096	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	7.18144453571184E-4	0.032
18	30518060	T	G	18	32938096	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	9.71858043073596E-4	0.02
18	30518061	C	A	18	32938097	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	8.12116528963958E-5	0.004
18	30518061	C	G	18	32938097	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	9.44433962265123E-5	0.004
18	30518061	C	T	18	32938097	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	1.07538349033395E-4	0.046
18	30518062	A	C	18	32938098	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.00938561342359525	0.266
18	30518062	A	G	18	32938098	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	2.09022487683345E-4	0.132
18	30518062	A	T	18	32938098	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.999716297180324	0.918
18	30518063	G	A	18	32938099	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.00325985285075786	0.06
18	30518063	G	C	18	32938099	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.32572471425034	0.388
18	30518063	G	T	18	32938099	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.720688779883668	0.464
18	30518064	A	C	18	32938100	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.948988642711107	0.83
18	30518064	A	G	18	32938100	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.0687207830642203	0.136
18	30518064	A	T	18	32938100	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.99180984767387	0.852
18	30518065	A	C	18	32938101	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.0940046764211509	0.508
18	30518065	A	G	18	32938101	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.00183927683874392	0.042
18	30518065	A	T	18	32938101	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.849957599081052	0.65
18	30518066	G	A	18	32938102	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	8.75230750425306E-5	0.004
18	30518066	G	C	18	32938102	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.00268044273179339	0.094
18	30518066	G	T	18	32938102	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	0.00366139949769979	0.068
18	30518067	C	A	18	32938103	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	1.33684777350849E-5	0.014
18	30518067	C	G	18	32938103	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	1.33684777350849E-5	0.0
18	30518067	C	T	18	32938103	y	n	intronic	CCDC178	.	.	ncRNA_exonic	ENSG00000263765	.	.	3.82301414894585E-5	0.0
18	30538184	T	A	18	32958220	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000579947:exon23:c.A2525T:p.N842I;	0.0017852600872314	0.022
18	30538184	T	C	18	32958220	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000579947:exon23:c.A2525G:p.N842S;	0.00176619965647745	0.018
18	30538184	T	G	18	32958220	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000579947:exon23:c.A2525C:p.N842T;	0.00176619965647745	0.018
18	30538185	T	A	18	32958221	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000579947:exon23:c.A2524T:p.N842Y;	0.00176619965647745	0.018
18	30538185	T	C	18	32958221	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000579947:exon23:c.A2524G:p.N842D;	0.00407745055844216	0.022
18	30538185	T	G	18	32958221	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000579947:exon23:c.A2524C:p.N842H;	0.00176619965647745	0.018
18	30538186	C	A	18	32958222	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000579947:exon24:c.2524-1G>T)	.	.	1.92337009422116E-4	0.02
18	30538186	C	G	18	32958222	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000579947:exon24:c.2524-1G>C)	.	.	1.92337009422116E-4	0.004
18	30538186	C	T	18	32958222	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000579947:exon24:c.2524-1G>A)	.	.	1.90336449518396E-4	0.004
18	30538187	T	A	18	32958223	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000579947:exon24:c.2524-2A>T)	.	.	0.0696896203579161	0.362
18	30538187	T	C	18	32958223	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000579947:exon24:c.2524-2A>G)	.	.	0.0266020167066816	0.158
18	30538187	T	G	18	32958223	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000579947:exon24:c.2524-2A>C)	.	.	0.0266020167066816	0.164
18	30538188	G	A	18	32958224	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00258666431452139	0.05
18	30538188	G	C	18	32958224	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00274158875105077	0.008
18	30538188	G	T	18	32958224	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00192232184505124	0.014
18	30538189	T	A	18	32958225	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.032
18	30538189	T	C	18	32958225	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.032
18	30538189	T	G	18	32958225	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.032
18	30538190	A	C	18	32958226	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00157781897979565	0.006
18	30538190	A	G	18	32958226	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00157781897979565	0.006
18	30538190	A	T	18	32958226	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00157781897979565	0.052
18	30538191	A	C	18	32958227	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00157781897979565	0.066
18	30538191	A	G	18	32958227	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00160374345579126	0.036
18	30538191	A	T	18	32958227	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00157781897979565	0.004
18	30538192	A	C	18	32958228	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.024
18	30538192	A	G	18	32958228	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.022
18	30538192	A	T	18	32958228	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.026
18	30538193	A	C	18	32958229	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.024
18	30538193	A	G	18	32958229	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.022
18	30538193	A	T	18	32958229	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00602217153505321	0.026
18	30538194	C	A	18	32958230	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.962697708782735	0.676
18	30538194	C	G	18	32958230	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.962697708782735	0.702
18	30538194	C	T	18	32958230	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.962697708782735	0.678
18	30538195	A	C	18	32958231	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.706
18	30538195	A	G	18	32958231	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.706
18	30538195	A	T	18	32958231	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.726
18	30538196	A	C	18	32958232	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.706
18	30538196	A	G	18	32958232	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.704
18	30538196	A	T	18	32958232	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.726
18	30538197	A	C	18	32958233	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.702
18	30538197	A	G	18	32958233	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.702
18	30538197	A	T	18	32958233	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799889922499629	0.726
18	30554503	T	A	18	32974539	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00283684149170516	0.002
18	30554503	T	C	18	32974539	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.36857580819036E-4	0.002
18	30554503	T	G	18	32974539	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00361850470713122	0.014
18	30554504	C	A	18	32974540	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0117911445548562	0.058
18	30554504	C	G	18	32974540	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0129991459752266	0.048
18	30554504	C	T	18	32974540	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0145133416655755	0.056
18	30554505	A	C	18	32974541	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00949606681820153	0.142
18	30554505	A	G	18	32974541	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.05683215316429	0.222
18	30554505	A	T	18	32974541	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0413217968429469	0.202
18	30554506	C	A	18	32974542	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.993689248082851	0.818
18	30554506	C	G	18	32974542	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.994853822191148	0.822
18	30554506	C	T	18	32974542	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.982267297001457	0.65
18	30554507	C	A	18	32974543	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00251377575430545	0.18
18	30554507	C	G	18	32974543	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00523816216839135	0.328
18	30554507	C	T	18	32974543	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00111349792720432	0.11
18	30554508	T	A	18	32974544	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.992065922130968	0.804
18	30554508	T	C	18	32974544	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.913292420513724	0.724
18	30554508	T	G	18	32974544	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.958113815449205	0.804
18	30554509	A	C	18	32974545	y	y	splicing	CCDC178(NM_001105528:exon22:c.2523+2T>G;NM_198995:exon22:c.2409+2T>G)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.138+2T>G;ENST00000403303:exon22:c.2523+2T>G;ENST00000581524:exon9:c.1014+2T>G;ENST00000383096:exon23:c.2523+2T>G;ENST00000300227:exon22:c.2409+2T>G;ENST00000579916:exon7:c.483+2T>G;ENST00000406524:exon22:c.2595+2T>G;ENST00000583930:exon23:c.2595+2T>G;ENST00000402325:exon20:c.2373+2T>G;ENST00000579947:exon23:c.2523+2T>G)	.	.	0.999988247793601	0.928
18	30554509	A	G	18	32974545	y	y	splicing	CCDC178(NM_001105528:exon22:c.2523+2T>C;NM_198995:exon22:c.2409+2T>C)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.138+2T>C;ENST00000403303:exon22:c.2523+2T>C;ENST00000581524:exon9:c.1014+2T>C;ENST00000383096:exon23:c.2523+2T>C;ENST00000300227:exon22:c.2409+2T>C;ENST00000579916:exon7:c.483+2T>C;ENST00000406524:exon22:c.2595+2T>C;ENST00000583930:exon23:c.2595+2T>C;ENST00000402325:exon20:c.2373+2T>C;ENST00000579947:exon23:c.2523+2T>C)	.	.	0.991305317320824	0.616
18	30554509	A	T	18	32974545	y	y	splicing	CCDC178(NM_001105528:exon22:c.2523+2T>A;NM_198995:exon22:c.2409+2T>A)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.138+2T>A;ENST00000403303:exon22:c.2523+2T>A;ENST00000581524:exon9:c.1014+2T>A;ENST00000383096:exon23:c.2523+2T>A;ENST00000300227:exon22:c.2409+2T>A;ENST00000579916:exon7:c.483+2T>A;ENST00000406524:exon22:c.2595+2T>A;ENST00000583930:exon23:c.2595+2T>A;ENST00000402325:exon20:c.2373+2T>A;ENST00000579947:exon23:c.2523+2T>A)	.	.	0.999988247793601	0.928
18	30554510	C	A	18	32974546	y	y	splicing	CCDC178(NM_001105528:exon22:c.2523+1G>T;NM_198995:exon22:c.2409+1G>T)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.138+1G>T;ENST00000403303:exon22:c.2523+1G>T;ENST00000581524:exon9:c.1014+1G>T;ENST00000383096:exon23:c.2523+1G>T;ENST00000300227:exon22:c.2409+1G>T;ENST00000579916:exon7:c.483+1G>T;ENST00000406524:exon22:c.2595+1G>T;ENST00000583930:exon23:c.2595+1G>T;ENST00000402325:exon20:c.2373+1G>T;ENST00000579947:exon23:c.2523+1G>T)	.	.	0.999986675681007	0.932
18	30554510	C	G	18	32974546	y	y	splicing	CCDC178(NM_001105528:exon22:c.2523+1G>C;NM_198995:exon22:c.2409+1G>C)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.138+1G>C;ENST00000403303:exon22:c.2523+1G>C;ENST00000581524:exon9:c.1014+1G>C;ENST00000383096:exon23:c.2523+1G>C;ENST00000300227:exon22:c.2409+1G>C;ENST00000579916:exon7:c.483+1G>C;ENST00000406524:exon22:c.2595+1G>C;ENST00000583930:exon23:c.2595+1G>C;ENST00000402325:exon20:c.2373+1G>C;ENST00000579947:exon23:c.2523+1G>C)	.	.	0.999986675681007	0.932
18	30554510	C	T	18	32974546	y	y	splicing	CCDC178(NM_001105528:exon22:c.2523+1G>A;NM_198995:exon22:c.2409+1G>A)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.138+1G>A;ENST00000403303:exon22:c.2523+1G>A;ENST00000581524:exon9:c.1014+1G>A;ENST00000383096:exon23:c.2523+1G>A;ENST00000300227:exon22:c.2409+1G>A;ENST00000579916:exon7:c.483+1G>A;ENST00000406524:exon22:c.2595+1G>A;ENST00000583930:exon23:c.2595+1G>A;ENST00000402325:exon20:c.2373+1G>A;ENST00000579947:exon23:c.2523+1G>A)	.	.	0.999986675681007	0.932
18	30554511	C	A	18	32974547	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.G2523T:p.Q841H;CCDC178:NM_198995:exon21:c.G2409T:p.Q803H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.G2595T:p.Q865H;ENSG00000166960:ENST00000402325:exon19:c.G2373T:p.Q791H;ENSG00000166960:ENST00000583930:exon22:c.G2595T:p.Q865H;ENSG00000166960:ENST00000581852:exon2:c.G138T:p.Q46H;ENSG00000166960:ENST00000579916:exon6:c.G483T:p.Q161H;ENSG00000166960:ENST00000383096:exon22:c.G2523T:p.Q841H;ENSG00000166960:ENST00000300227:exon21:c.G2409T:p.Q803H;ENSG00000166960:ENST00000403303:exon21:c.G2523T:p.Q841H;ENSG00000166960:ENST00000581524:exon8:c.G1014T:p.Q338H;ENSG00000166960:ENST00000579947:exon22:c.G2523T:p.Q841H;	0.999485634491741	0.966
18	30554511	C	G	18	32974547	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.G2523C:p.Q841H;CCDC178:NM_198995:exon21:c.G2409C:p.Q803H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.G2595C:p.Q865H;ENSG00000166960:ENST00000402325:exon19:c.G2373C:p.Q791H;ENSG00000166960:ENST00000583930:exon22:c.G2595C:p.Q865H;ENSG00000166960:ENST00000581852:exon2:c.G138C:p.Q46H;ENSG00000166960:ENST00000579916:exon6:c.G483C:p.Q161H;ENSG00000166960:ENST00000383096:exon22:c.G2523C:p.Q841H;ENSG00000166960:ENST00000300227:exon21:c.G2409C:p.Q803H;ENSG00000166960:ENST00000403303:exon21:c.G2523C:p.Q841H;ENSG00000166960:ENST00000581524:exon8:c.G1014C:p.Q338H;ENSG00000166960:ENST00000579947:exon22:c.G2523C:p.Q841H;	0.999056835203995	0.924
18	30554511	C	T	18	32974547	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon21:c.G2523A:p.Q841Q;CCDC178:NM_198995:exon21:c.G2409A:p.Q803Q;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.G2595A:p.Q865Q;ENSG00000166960:ENST00000402325:exon19:c.G2373A:p.Q791Q;ENSG00000166960:ENST00000583930:exon22:c.G2595A:p.Q865Q;ENSG00000166960:ENST00000581852:exon2:c.G138A:p.Q46Q;ENSG00000166960:ENST00000579916:exon6:c.G483A:p.Q161Q;ENSG00000166960:ENST00000383096:exon22:c.G2523A:p.Q841Q;ENSG00000166960:ENST00000300227:exon21:c.G2409A:p.Q803Q;ENSG00000166960:ENST00000403303:exon21:c.G2523A:p.Q841Q;ENSG00000166960:ENST00000581524:exon8:c.G1014A:p.Q338Q;ENSG00000166960:ENST00000579947:exon22:c.G2523A:p.Q841Q;	0.994120497282442	0.86
18	30554512	T	A	18	32974548	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.A2522T:p.Q841L;CCDC178:NM_198995:exon21:c.A2408T:p.Q803L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.A2594T:p.Q865L;ENSG00000166960:ENST00000402325:exon19:c.A2372T:p.Q791L;ENSG00000166960:ENST00000583930:exon22:c.A2594T:p.Q865L;ENSG00000166960:ENST00000581852:exon2:c.A137T:p.Q46L;ENSG00000166960:ENST00000579916:exon6:c.A482T:p.Q161L;ENSG00000166960:ENST00000383096:exon22:c.A2522T:p.Q841L;ENSG00000166960:ENST00000300227:exon21:c.A2408T:p.Q803L;ENSG00000166960:ENST00000403303:exon21:c.A2522T:p.Q841L;ENSG00000166960:ENST00000581524:exon8:c.A1013T:p.Q338L;ENSG00000166960:ENST00000579947:exon22:c.A2522T:p.Q841L;	0.983903456939728	0.906
18	30554512	T	C	18	32974548	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.A2522G:p.Q841R;CCDC178:NM_198995:exon21:c.A2408G:p.Q803R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.A2594G:p.Q865R;ENSG00000166960:ENST00000402325:exon19:c.A2372G:p.Q791R;ENSG00000166960:ENST00000583930:exon22:c.A2594G:p.Q865R;ENSG00000166960:ENST00000581852:exon2:c.A137G:p.Q46R;ENSG00000166960:ENST00000579916:exon6:c.A482G:p.Q161R;ENSG00000166960:ENST00000383096:exon22:c.A2522G:p.Q841R;ENSG00000166960:ENST00000300227:exon21:c.A2408G:p.Q803R;ENSG00000166960:ENST00000403303:exon21:c.A2522G:p.Q841R;ENSG00000166960:ENST00000581524:exon8:c.A1013G:p.Q338R;ENSG00000166960:ENST00000579947:exon22:c.A2522G:p.Q841R;	0.832433776541749	0.72
18	30554512	T	G	18	32974548	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.A2522C:p.Q841P;CCDC178:NM_198995:exon21:c.A2408C:p.Q803P;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.A2594C:p.Q865P;ENSG00000166960:ENST00000402325:exon19:c.A2372C:p.Q791P;ENSG00000166960:ENST00000583930:exon22:c.A2594C:p.Q865P;ENSG00000166960:ENST00000581852:exon2:c.A137C:p.Q46P;ENSG00000166960:ENST00000579916:exon6:c.A482C:p.Q161P;ENSG00000166960:ENST00000383096:exon22:c.A2522C:p.Q841P;ENSG00000166960:ENST00000300227:exon21:c.A2408C:p.Q803P;ENSG00000166960:ENST00000403303:exon21:c.A2522C:p.Q841P;ENSG00000166960:ENST00000581524:exon8:c.A1013C:p.Q338P;ENSG00000166960:ENST00000579947:exon22:c.A2522C:p.Q841P;	0.758168730463698	0.626
18	30554513	G	A	18	32974549	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon21:c.C2521T:p.Q841X;CCDC178:NM_198995:exon21:c.C2407T:p.Q803X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon21:c.C2593T:p.Q865X;ENSG00000166960:ENST00000402325:exon19:c.C2371T:p.Q791X;ENSG00000166960:ENST00000583930:exon22:c.C2593T:p.Q865X;ENSG00000166960:ENST00000581852:exon2:c.C136T:p.Q46X;ENSG00000166960:ENST00000579916:exon6:c.C481T:p.Q161X;ENSG00000166960:ENST00000383096:exon22:c.C2521T:p.Q841X;ENSG00000166960:ENST00000300227:exon21:c.C2407T:p.Q803X;ENSG00000166960:ENST00000403303:exon21:c.C2521T:p.Q841X;ENSG00000166960:ENST00000581524:exon8:c.C1012T:p.Q338X;ENSG00000166960:ENST00000579947:exon22:c.C2521T:p.Q841X;	0.999088303448094	0.902
18	30554513	G	C	18	32974549	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.C2521G:p.Q841E;CCDC178:NM_198995:exon21:c.C2407G:p.Q803E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.C2593G:p.Q865E;ENSG00000166960:ENST00000402325:exon19:c.C2371G:p.Q791E;ENSG00000166960:ENST00000583930:exon22:c.C2593G:p.Q865E;ENSG00000166960:ENST00000581852:exon2:c.C136G:p.Q46E;ENSG00000166960:ENST00000579916:exon6:c.C481G:p.Q161E;ENSG00000166960:ENST00000383096:exon22:c.C2521G:p.Q841E;ENSG00000166960:ENST00000300227:exon21:c.C2407G:p.Q803E;ENSG00000166960:ENST00000403303:exon21:c.C2521G:p.Q841E;ENSG00000166960:ENST00000581524:exon8:c.C1012G:p.Q338E;ENSG00000166960:ENST00000579947:exon22:c.C2521G:p.Q841E;	0.00539661366640733	0.124
18	30554513	G	T	18	32974549	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.C2521A:p.Q841K;CCDC178:NM_198995:exon21:c.C2407A:p.Q803K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.C2593A:p.Q865K;ENSG00000166960:ENST00000402325:exon19:c.C2371A:p.Q791K;ENSG00000166960:ENST00000583930:exon22:c.C2593A:p.Q865K;ENSG00000166960:ENST00000581852:exon2:c.C136A:p.Q46K;ENSG00000166960:ENST00000579916:exon6:c.C481A:p.Q161K;ENSG00000166960:ENST00000383096:exon22:c.C2521A:p.Q841K;ENSG00000166960:ENST00000300227:exon21:c.C2407A:p.Q803K;ENSG00000166960:ENST00000403303:exon21:c.C2521A:p.Q841K;ENSG00000166960:ENST00000581524:exon8:c.C1012A:p.Q338K;ENSG00000166960:ENST00000579947:exon22:c.C2521A:p.Q841K;	0.00915577141381311	0.128
18	30554644	A	C	18	32974680	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.T2390G:p.L797R;CCDC178:NM_198995:exon21:c.T2276G:p.L759R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.T2462G:p.L821R;ENSG00000166960:ENST00000402325:exon19:c.T2240G:p.L747R;ENSG00000166960:ENST00000583930:exon22:c.T2462G:p.L821R;ENSG00000166960:ENST00000581852:exon2:c.T5G:p.L2R;ENSG00000166960:ENST00000579916:exon6:c.T350G:p.L117R;ENSG00000166960:ENST00000383096:exon22:c.T2390G:p.L797R;ENSG00000166960:ENST00000300227:exon21:c.T2276G:p.L759R;ENSG00000166960:ENST00000403303:exon21:c.T2390G:p.L797R;ENSG00000166960:ENST00000581524:exon8:c.T881G:p.L294R;ENSG00000166960:ENST00000579947:exon22:c.T2390G:p.L797R;	5.35881525542457E-4	0.03
18	30554644	A	G	18	32974680	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.T2390C:p.L797P;CCDC178:NM_198995:exon21:c.T2276C:p.L759P;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.T2462C:p.L821P;ENSG00000166960:ENST00000402325:exon19:c.T2240C:p.L747P;ENSG00000166960:ENST00000583930:exon22:c.T2462C:p.L821P;ENSG00000166960:ENST00000581852:exon2:c.T5C:p.L2P;ENSG00000166960:ENST00000579916:exon6:c.T350C:p.L117P;ENSG00000166960:ENST00000383096:exon22:c.T2390C:p.L797P;ENSG00000166960:ENST00000300227:exon21:c.T2276C:p.L759P;ENSG00000166960:ENST00000403303:exon21:c.T2390C:p.L797P;ENSG00000166960:ENST00000581524:exon8:c.T881C:p.L294P;ENSG00000166960:ENST00000579947:exon22:c.T2390C:p.L797P;	9.19587084811228E-4	0.05
18	30554644	A	T	18	32974680	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.T2390A:p.L797H;CCDC178:NM_198995:exon21:c.T2276A:p.L759H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.T2462A:p.L821H;ENSG00000166960:ENST00000402325:exon19:c.T2240A:p.L747H;ENSG00000166960:ENST00000583930:exon22:c.T2462A:p.L821H;ENSG00000166960:ENST00000581852:exon2:c.T5A:p.L2H;ENSG00000166960:ENST00000579916:exon6:c.T350A:p.L117H;ENSG00000166960:ENST00000383096:exon22:c.T2390A:p.L797H;ENSG00000166960:ENST00000300227:exon21:c.T2276A:p.L759H;ENSG00000166960:ENST00000403303:exon21:c.T2390A:p.L797H;ENSG00000166960:ENST00000581524:exon8:c.T881A:p.L294H;ENSG00000166960:ENST00000579947:exon22:c.T2390A:p.L797H;	3.91637636184211E-4	0.024
18	30554645	G	A	18	32974681	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.C2389T:p.L797F;CCDC178:NM_198995:exon21:c.C2275T:p.L759F;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.C2461T:p.L821F;ENSG00000166960:ENST00000402325:exon19:c.C2239T:p.L747F;ENSG00000166960:ENST00000583930:exon22:c.C2461T:p.L821F;ENSG00000166960:ENST00000581852:exon2:c.C4T:p.L2F;ENSG00000166960:ENST00000579916:exon6:c.C349T:p.L117F;ENSG00000166960:ENST00000383096:exon22:c.C2389T:p.L797F;ENSG00000166960:ENST00000300227:exon21:c.C2275T:p.L759F;ENSG00000166960:ENST00000403303:exon21:c.C2389T:p.L797F;ENSG00000166960:ENST00000581524:exon8:c.C880T:p.L294F;ENSG00000166960:ENST00000579947:exon22:c.C2389T:p.L797F;	1.99539633954667E-4	0.064
18	30554645	G	C	18	32974681	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.C2389G:p.L797V;CCDC178:NM_198995:exon21:c.C2275G:p.L759V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.C2461G:p.L821V;ENSG00000166960:ENST00000402325:exon19:c.C2239G:p.L747V;ENSG00000166960:ENST00000583930:exon22:c.C2461G:p.L821V;ENSG00000166960:ENST00000581852:exon2:c.C4G:p.L2V;ENSG00000166960:ENST00000579916:exon6:c.C349G:p.L117V;ENSG00000166960:ENST00000383096:exon22:c.C2389G:p.L797V;ENSG00000166960:ENST00000300227:exon21:c.C2275G:p.L759V;ENSG00000166960:ENST00000403303:exon21:c.C2389G:p.L797V;ENSG00000166960:ENST00000581524:exon8:c.C880G:p.L294V;ENSG00000166960:ENST00000579947:exon22:c.C2389G:p.L797V;	3.61495823288626E-4	0.172
18	30554645	G	T	18	32974681	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon21:c.C2389A:p.L797I;CCDC178:NM_198995:exon21:c.C2275A:p.L759I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon21:c.C2461A:p.L821I;ENSG00000166960:ENST00000402325:exon19:c.C2239A:p.L747I;ENSG00000166960:ENST00000583930:exon22:c.C2461A:p.L821I;ENSG00000166960:ENST00000581852:exon2:c.C4A:p.L2I;ENSG00000166960:ENST00000579916:exon6:c.C349A:p.L117I;ENSG00000166960:ENST00000383096:exon22:c.C2389A:p.L797I;ENSG00000166960:ENST00000300227:exon21:c.C2275A:p.L759I;ENSG00000166960:ENST00000403303:exon21:c.C2389A:p.L797I;ENSG00000166960:ENST00000581524:exon8:c.C880A:p.L294I;ENSG00000166960:ENST00000579947:exon22:c.C2389A:p.L797I;	6.80829720320393E-5	0.0
18	30554646	C	A	18	32974682	y	y	splicing	CCDC178(NM_001105528:exon22:c.2389-1G>T;NM_198995:exon22:c.2275-1G>T)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.4-1G>T;ENST00000403303:exon22:c.2389-1G>T;ENST00000581524:exon9:c.880-1G>T;ENST00000383096:exon23:c.2389-1G>T;ENST00000300227:exon22:c.2275-1G>T;ENST00000579916:exon7:c.349-1G>T;ENST00000406524:exon22:c.2461-1G>T;ENST00000583930:exon23:c.2461-1G>T;ENST00000402325:exon20:c.2239-1G>T;ENST00000579947:exon23:c.2389-1G>T)	.	.	0.999938422912956	0.942
18	30554646	C	G	18	32974682	y	y	splicing	CCDC178(NM_001105528:exon22:c.2389-1G>C;NM_198995:exon22:c.2275-1G>C)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.4-1G>C;ENST00000403303:exon22:c.2389-1G>C;ENST00000581524:exon9:c.880-1G>C;ENST00000383096:exon23:c.2389-1G>C;ENST00000300227:exon22:c.2275-1G>C;ENST00000579916:exon7:c.349-1G>C;ENST00000406524:exon22:c.2461-1G>C;ENST00000583930:exon23:c.2461-1G>C;ENST00000402325:exon20:c.2239-1G>C;ENST00000579947:exon23:c.2389-1G>C)	.	.	0.999938422912956	0.942
18	30554646	C	T	18	32974682	y	y	splicing	CCDC178(NM_001105528:exon22:c.2389-1G>A;NM_198995:exon22:c.2275-1G>A)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.4-1G>A;ENST00000403303:exon22:c.2389-1G>A;ENST00000581524:exon9:c.880-1G>A;ENST00000383096:exon23:c.2389-1G>A;ENST00000300227:exon22:c.2275-1G>A;ENST00000579916:exon7:c.349-1G>A;ENST00000406524:exon22:c.2461-1G>A;ENST00000583930:exon23:c.2461-1G>A;ENST00000402325:exon20:c.2239-1G>A;ENST00000579947:exon23:c.2389-1G>A)	.	.	0.999938422912956	0.936
18	30554647	T	A	18	32974683	y	y	splicing	CCDC178(NM_001105528:exon22:c.2389-2A>T;NM_198995:exon22:c.2275-2A>T)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.4-2A>T;ENST00000403303:exon22:c.2389-2A>T;ENST00000581524:exon9:c.880-2A>T;ENST00000383096:exon23:c.2389-2A>T;ENST00000300227:exon22:c.2275-2A>T;ENST00000579916:exon7:c.349-2A>T;ENST00000406524:exon22:c.2461-2A>T;ENST00000583930:exon23:c.2461-2A>T;ENST00000402325:exon20:c.2239-2A>T;ENST00000579947:exon23:c.2389-2A>T)	.	.	0.999946188727699	0.946
18	30554647	T	C	18	32974683	y	y	splicing	CCDC178(NM_001105528:exon22:c.2389-2A>G;NM_198995:exon22:c.2275-2A>G)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.4-2A>G;ENST00000403303:exon22:c.2389-2A>G;ENST00000581524:exon9:c.880-2A>G;ENST00000383096:exon23:c.2389-2A>G;ENST00000300227:exon22:c.2275-2A>G;ENST00000579916:exon7:c.349-2A>G;ENST00000406524:exon22:c.2461-2A>G;ENST00000583930:exon23:c.2461-2A>G;ENST00000402325:exon20:c.2239-2A>G;ENST00000579947:exon23:c.2389-2A>G)	.	.	0.999946188727699	0.942
18	30554647	T	G	18	32974683	y	y	splicing	CCDC178(NM_001105528:exon22:c.2389-2A>C;NM_198995:exon22:c.2275-2A>C)	.	.	splicing	ENSG00000166960(ENST00000581852:exon3:c.4-2A>C;ENST00000403303:exon22:c.2389-2A>C;ENST00000581524:exon9:c.880-2A>C;ENST00000383096:exon23:c.2389-2A>C;ENST00000300227:exon22:c.2275-2A>C;ENST00000579916:exon7:c.349-2A>C;ENST00000406524:exon22:c.2461-2A>C;ENST00000583930:exon23:c.2461-2A>C;ENST00000402325:exon20:c.2239-2A>C;ENST00000579947:exon23:c.2389-2A>C)	.	.	0.999946188727699	0.942
18	30554648	A	C	18	32974684	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998389163865819	0.684
18	30554648	A	G	18	32974684	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.79508466773632E-4	0.006
18	30554648	A	T	18	32974684	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0125328935022279	0.266
18	30554649	A	C	18	32974685	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.65377648091264E-4	0.008
18	30554649	A	G	18	32974685	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.39249885115242E-5	0.004
18	30554649	A	T	18	32974685	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.27681899422811E-5	0.0
18	30554650	A	C	18	32974686	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.600982603976446	0.466
18	30554650	A	G	18	32974686	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00100073186641792	0.156
18	30554650	A	T	18	32974686	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.644377092559335	0.51
18	30554651	G	A	18	32974687	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.90539660387976E-5	0.056
18	30554651	G	C	18	32974687	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00182539429286961	0.168
18	30554651	G	T	18	32974687	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00301842954221426	0.15
18	30554652	G	A	18	32974688	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.31495780000611E-5	0.066
18	30554652	G	C	18	32974688	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.59715646114576E-4	0.086
18	30554652	G	T	18	32974688	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.81910786814705E-4	0.074
18	30554653	G	A	18	32974689	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.41579228076679E-5	0.016
18	30554653	G	C	18	32974689	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.97871417057091E-4	0.02
18	30554653	G	T	18	32974689	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.26515696393922E-4	0.008
18	30554654	A	C	18	32974690	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00152685863452229	0.122
18	30554654	A	G	18	32974690	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.49031606433812E-5	0.002
18	30554654	A	T	18	32974690	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0094199588814342	0.164
18	30554655	A	C	18	32974691	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00975359363382603	0.276
18	30554655	A	G	18	32974691	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.71008807626286E-4	0.092
18	30554655	A	T	18	32974691	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0502677697690309	0.212
18	30554656	G	A	18	32974692	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.02005351766933E-4	0.012
18	30554656	G	C	18	32974692	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00526749410771525	0.066
18	30554656	G	T	18	32974692	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0222276177143746	0.206
18	30554657	A	C	18	32974693	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.764363882689612	0.48
18	30554657	A	G	18	32974693	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0286209233627749	0.268
18	30554657	A	T	18	32974693	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.926430373913719	0.54
18	30563237	A	C	18	32983273	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00102211620560074	0.008
18	30563237	A	G	18	32983273	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00102211620560074	0.008
18	30563237	A	T	18	32983273	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00102211620560074	0.008
18	30563238	C	A	18	32983274	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.552751562108E-5	0.006
18	30563238	C	G	18	32983274	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.552751562108E-5	0.004
18	30563238	C	T	18	32983274	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.552751562108E-5	0.04
18	30563239	A	C	18	32983275	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.59839159160091E-5	0.0
18	30563239	A	G	18	32983275	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.59839159160091E-5	0.0
18	30563239	A	T	18	32983275	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.59839159160091E-5	0.004
18	30563240	G	A	18	32983276	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.87698428322107E-5	0.002
18	30563240	G	C	18	32983276	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.87698428322107E-5	0.004
18	30563240	G	T	18	32983276	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.87698428322107E-5	0.002
18	30563241	G	A	18	32983277	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.21557472225283E-5	0.002
18	30563241	G	C	18	32983277	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.29994972594758E-5	0.006
18	30563241	G	T	18	32983277	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.29994972594758E-5	0.01
18	30563242	T	A	18	32983278	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.24975915077222E-5	0.0
18	30563242	T	C	18	32983278	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.1020973109669E-5	0.0
18	30563242	T	G	18	32983278	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.1020973109669E-5	0.0
18	30563243	A	C	18	32983279	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2460+2T>G;ENST00000583930:exon22:c.2460+2T>G)	.	.	4.54404724015672E-5	0.004
18	30563243	A	G	18	32983279	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2460+2T>C;ENST00000583930:exon22:c.2460+2T>C)	.	.	4.54404724015672E-5	0.004
18	30563243	A	T	18	32983279	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2460+2T>A;ENST00000583930:exon22:c.2460+2T>A)	.	.	1.2194139863653E-4	0.004
18	30563244	C	A	18	32983280	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2460+1G>T;ENST00000583930:exon22:c.2460+1G>T)	.	.	9.27237026149931E-5	0.0
18	30563244	C	G	18	32983280	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2460+1G>C;ENST00000583930:exon22:c.2460+1G>C)	.	.	9.27237026149931E-5	0.0
18	30563244	C	T	18	32983280	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2460+1G>A;ENST00000583930:exon22:c.2460+1G>A)	.	.	9.27237026149931E-5	0.0
18	30563245	C	A	18	32983281	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.G2460T:p.Q820H;ENSG00000166960:ENST00000583930:exon21:c.G2460T:p.Q820H;	0.0231827879159435	0.24
18	30563245	C	G	18	32983281	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.G2460C:p.Q820H;ENSG00000166960:ENST00000583930:exon21:c.G2460C:p.Q820H;	0.0231827879159435	0.246
18	30563245	C	T	18	32983281	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.G2460A:p.Q820Q;ENSG00000166960:ENST00000583930:exon21:c.G2460A:p.Q820Q;	5.84277354222336E-4	0.004
18	30563246	T	A	18	32983282	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.A2459T:p.Q820L;ENSG00000166960:ENST00000583930:exon21:c.A2459T:p.Q820L;	2.74589717280448E-5	0.038
18	30563246	T	C	18	32983282	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.A2459G:p.Q820R;ENSG00000166960:ENST00000583930:exon21:c.A2459G:p.Q820R;	2.15589091241306E-4	0.006
18	30563246	T	G	18	32983282	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.A2459C:p.Q820P;ENSG00000166960:ENST00000583930:exon21:c.A2459C:p.Q820P;	1.5230933723647E-4	0.0
18	30563247	G	A	18	32983283	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon20:c.C2458T:p.Q820X;ENSG00000166960:ENST00000583930:exon21:c.C2458T:p.Q820X;	8.31931364735965E-4	0.25
18	30563247	G	C	18	32983283	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.C2458G:p.Q820E;ENSG00000166960:ENST00000583930:exon21:c.C2458G:p.Q820E;	1.77945247904412E-4	0.002
18	30563247	G	T	18	32983283	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.C2458A:p.Q820K;ENSG00000166960:ENST00000583930:exon21:c.C2458A:p.Q820K;	1.57835689468231E-4	0.002
18	30563315	A	C	18	32983351	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.T2390G:p.V797G;ENSG00000166960:ENST00000583930:exon21:c.T2390G:p.V797G;	8.55453923326756E-5	0.016
18	30563315	A	G	18	32983351	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.T2390C:p.V797A;ENSG00000166960:ENST00000583930:exon21:c.T2390C:p.V797A;	7.76074896990115E-5	0.0
18	30563315	A	T	18	32983351	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.T2390A:p.V797D;ENSG00000166960:ENST00000583930:exon21:c.T2390A:p.V797D;	8.55453923326756E-5	0.016
18	30563316	C	A	18	32983352	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.G2389T:p.V797F;ENSG00000166960:ENST00000583930:exon21:c.G2389T:p.V797F;	1.79321106283962E-4	0.002
18	30563316	C	G	18	32983352	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.G2389C:p.V797L;ENSG00000166960:ENST00000583930:exon21:c.G2389C:p.V797L;	1.3643616710209E-4	0.002
18	30563316	C	T	18	32983352	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon20:c.G2389A:p.V797I;ENSG00000166960:ENST00000583930:exon21:c.G2389A:p.V797I;	1.3643616710209E-4	0.0
18	30563317	C	A	18	32983353	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2389-1G>T;ENST00000583930:exon22:c.2389-1G>T)	.	.	5.80793394726513E-5	0.006
18	30563317	C	G	18	32983353	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2389-1G>C;ENST00000583930:exon22:c.2389-1G>C)	.	.	5.80793394726513E-5	0.006
18	30563317	C	T	18	32983353	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2389-1G>A;ENST00000583930:exon22:c.2389-1G>A)	.	.	5.80793394726513E-5	0.006
18	30563318	T	A	18	32983354	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2389-2A>T;ENST00000583930:exon22:c.2389-2A>T)	.	.	1.9096691494675E-4	0.004
18	30563318	T	C	18	32983354	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2389-2A>G;ENST00000583930:exon22:c.2389-2A>G)	.	.	9.75175917497495E-5	0.002
18	30563318	T	G	18	32983354	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000406524:exon21:c.2389-2A>C;ENST00000583930:exon22:c.2389-2A>C)	.	.	9.75175917497495E-5	0.004
18	30563319	A	C	18	32983355	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.59797615271383E-5	0.0
18	30563319	A	G	18	32983355	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.59797615271383E-5	0.0
18	30563319	A	T	18	32983355	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.35697579118787E-5	0.0
18	30563320	A	C	18	32983356	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.38113264713725E-5	0.006
18	30563320	A	G	18	32983356	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.38113264713725E-5	0.006
18	30563320	A	T	18	32983356	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.38113264713725E-5	0.006
18	30563321	G	A	18	32983357	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.3525528897954E-5	0.0
18	30563321	G	C	18	32983357	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.3525528897954E-5	0.0
18	30563321	G	T	18	32983357	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.3525528897954E-5	0.0
18	30563322	A	C	18	32983358	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.65778582306901E-5	0.0
18	30563322	A	G	18	32983358	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.65778582306901E-5	0.0
18	30563322	A	T	18	32983358	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.9469183429777E-5	0.0
18	30563323	A	C	18	32983359	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.05567792764038E-5	0.002
18	30563323	A	G	18	32983359	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.05567792764038E-5	0.002
18	30563323	A	T	18	32983359	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.12967705479703E-5	0.0
18	30563324	T	A	18	32983360	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.25896182624293E-5	0.004
18	30563324	T	C	18	32983360	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.48306501328221E-5	0.004
18	30563324	T	G	18	32983360	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.48306501328221E-5	0.004
18	30563325	A	C	18	32983361	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.66122568896318E-5	0.01
18	30563325	A	G	18	32983361	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.66122568896318E-5	0.002
18	30563325	A	T	18	32983361	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.37401300569508E-4	0.006
18	30563326	G	A	18	32983362	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.00043844550976E-5	0.016
18	30563326	G	C	18	32983362	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.00043844550976E-5	0.016
18	30563326	G	T	18	32983362	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.00043844550976E-5	0.016
18	30563327	A	C	18	32983363	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.76375603973572E-5	0.012
18	30563327	A	G	18	32983363	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.76375603973572E-5	0.012
18	30563327	A	T	18	32983363	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.76375603973572E-5	0.012
18	30563328	A	C	18	32983364	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.69439264402225E-5	0.002
18	30563328	A	G	18	32983364	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.69439264402225E-5	0.002
18	30563328	A	T	18	32983364	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.69439264402225E-5	0.002
18	30672717	A	C	18	33092753	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.45307536862929E-5	0.0
18	30672717	A	G	18	33092753	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.05442434109823E-5	0.0
18	30672717	A	T	18	33092753	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.20428113861073E-5	0.004
18	30672718	C	A	18	33092754	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.21067915152549E-5	0.012
18	30672718	C	G	18	33092754	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.11208240419735E-5	0.0
18	30672718	C	T	18	33092754	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.32112481699948E-5	0.022
18	30672719	C	A	18	33092755	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.81128536761306E-5	0.058
18	30672719	C	G	18	33092755	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.37515291843264E-5	0.024
18	30672719	C	T	18	33092755	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.44853866892856E-5	0.0
18	30672720	A	C	18	33092756	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.25773392792801E-4	0.098
18	30672720	A	G	18	33092756	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.62638759732808E-4	0.052
18	30672720	A	T	18	33092756	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.31737783081756E-4	0.01
18	30672721	A	C	18	33092757	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.78368923043866E-4	0.034
18	30672721	A	G	18	33092757	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.37990397511338E-5	0.0
18	30672721	A	T	18	33092757	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.39463259780003E-5	0.004
18	30672722	T	A	18	33092758	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999851943080795	0.942
18	30672722	T	C	18	33092758	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998722276130106	0.804
18	30672722	T	G	18	33092758	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999832151759287	0.93
18	30672723	A	C	18	33092759	y	y	splicing	CCDC178(NM_001105528:exon21:c.2388+2T>G;NM_198995:exon21:c.2274+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2388+2T>G;ENST00000383096:exon22:c.2388+2T>G;ENST00000300227:exon21:c.2274+2T>G;ENST00000406524:exon20:c.2388+2T>G;ENST00000583930:exon21:c.2388+2T>G;ENST00000579947:exon22:c.2388+2T>G)	.	.	0.999946188727699	0.922
18	30672723	A	G	18	33092759	y	y	splicing	CCDC178(NM_001105528:exon21:c.2388+2T>C;NM_198995:exon21:c.2274+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2388+2T>C;ENST00000383096:exon22:c.2388+2T>C;ENST00000300227:exon21:c.2274+2T>C;ENST00000406524:exon20:c.2388+2T>C;ENST00000583930:exon21:c.2388+2T>C;ENST00000579947:exon22:c.2388+2T>C)	.	.	0.970590556958883	0.63
18	30672723	A	T	18	33092759	y	y	splicing	CCDC178(NM_001105528:exon21:c.2388+2T>A;NM_198995:exon21:c.2274+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2388+2T>A;ENST00000383096:exon22:c.2388+2T>A;ENST00000300227:exon21:c.2274+2T>A;ENST00000406524:exon20:c.2388+2T>A;ENST00000583930:exon21:c.2388+2T>A;ENST00000579947:exon22:c.2388+2T>A)	.	.	0.999946188727699	0.932
18	30672724	C	A	18	33092760	y	y	splicing	CCDC178(NM_001105528:exon21:c.2388+1G>T;NM_198995:exon21:c.2274+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2388+1G>T;ENST00000383096:exon22:c.2388+1G>T;ENST00000300227:exon21:c.2274+1G>T;ENST00000406524:exon20:c.2388+1G>T;ENST00000583930:exon21:c.2388+1G>T;ENST00000579947:exon22:c.2388+1G>T)	.	.	0.999933757597683	0.938
18	30672724	C	G	18	33092760	y	y	splicing	CCDC178(NM_001105528:exon21:c.2388+1G>C;NM_198995:exon21:c.2274+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2388+1G>C;ENST00000383096:exon22:c.2388+1G>C;ENST00000300227:exon21:c.2274+1G>C;ENST00000406524:exon20:c.2388+1G>C;ENST00000583930:exon21:c.2388+1G>C;ENST00000579947:exon22:c.2388+1G>C)	.	.	0.999933757597683	0.936
18	30672724	C	T	18	33092760	y	y	splicing	CCDC178(NM_001105528:exon21:c.2388+1G>A;NM_198995:exon21:c.2274+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2388+1G>A;ENST00000383096:exon22:c.2388+1G>A;ENST00000300227:exon21:c.2274+1G>A;ENST00000406524:exon20:c.2388+1G>A;ENST00000583930:exon21:c.2388+1G>A;ENST00000579947:exon22:c.2388+1G>A)	.	.	0.99993314117114	0.938
18	30672725	C	A	18	33092761	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.G2388T:p.Q796H;CCDC178:NM_198995:exon20:c.G2274T:p.Q758H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.G2388T:p.Q796H;ENSG00000166960:ENST00000583930:exon20:c.G2388T:p.Q796H;ENSG00000166960:ENST00000383096:exon21:c.G2388T:p.Q796H;ENSG00000166960:ENST00000300227:exon20:c.G2274T:p.Q758H;ENSG00000166960:ENST00000403303:exon20:c.G2388T:p.Q796H;ENSG00000166960:ENST00000579947:exon21:c.G2388T:p.Q796H;	0.999990291787561	0.958
18	30672725	C	G	18	33092761	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.G2388C:p.Q796H;CCDC178:NM_198995:exon20:c.G2274C:p.Q758H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.G2388C:p.Q796H;ENSG00000166960:ENST00000583930:exon20:c.G2388C:p.Q796H;ENSG00000166960:ENST00000383096:exon21:c.G2388C:p.Q796H;ENSG00000166960:ENST00000300227:exon20:c.G2274C:p.Q758H;ENSG00000166960:ENST00000403303:exon20:c.G2388C:p.Q796H;ENSG00000166960:ENST00000579947:exon21:c.G2388C:p.Q796H;	0.999996895445482	0.984
18	30672725	C	T	18	33092761	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon20:c.G2388A:p.Q796Q;CCDC178:NM_198995:exon20:c.G2274A:p.Q758Q;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.G2388A:p.Q796Q;ENSG00000166960:ENST00000583930:exon20:c.G2388A:p.Q796Q;ENSG00000166960:ENST00000383096:exon21:c.G2388A:p.Q796Q;ENSG00000166960:ENST00000300227:exon20:c.G2274A:p.Q758Q;ENSG00000166960:ENST00000403303:exon20:c.G2388A:p.Q796Q;ENSG00000166960:ENST00000579947:exon21:c.G2388A:p.Q796Q;	0.999986469605067	0.984
18	30672726	T	A	18	33092762	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.A2387T:p.Q796L;CCDC178:NM_198995:exon20:c.A2273T:p.Q758L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.A2387T:p.Q796L;ENSG00000166960:ENST00000583930:exon20:c.A2387T:p.Q796L;ENSG00000166960:ENST00000383096:exon21:c.A2387T:p.Q796L;ENSG00000166960:ENST00000300227:exon20:c.A2273T:p.Q758L;ENSG00000166960:ENST00000403303:exon20:c.A2387T:p.Q796L;ENSG00000166960:ENST00000579947:exon21:c.A2387T:p.Q796L;	0.984607923058661	0.932
18	30672726	T	C	18	33092762	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.A2387G:p.Q796R;CCDC178:NM_198995:exon20:c.A2273G:p.Q758R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.A2387G:p.Q796R;ENSG00000166960:ENST00000583930:exon20:c.A2387G:p.Q796R;ENSG00000166960:ENST00000383096:exon21:c.A2387G:p.Q796R;ENSG00000166960:ENST00000300227:exon20:c.A2273G:p.Q758R;ENSG00000166960:ENST00000403303:exon20:c.A2387G:p.Q796R;ENSG00000166960:ENST00000579947:exon21:c.A2387G:p.Q796R;	0.991623673486802	0.92
18	30672726	T	G	18	33092762	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.A2387C:p.Q796P;CCDC178:NM_198995:exon20:c.A2273C:p.Q758P;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.A2387C:p.Q796P;ENSG00000166960:ENST00000583930:exon20:c.A2387C:p.Q796P;ENSG00000166960:ENST00000383096:exon21:c.A2387C:p.Q796P;ENSG00000166960:ENST00000300227:exon20:c.A2273C:p.Q758P;ENSG00000166960:ENST00000403303:exon20:c.A2387C:p.Q796P;ENSG00000166960:ENST00000579947:exon21:c.A2387C:p.Q796P;	0.996804659537089	0.928
18	30672727	G	A	18	33092763	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon20:c.C2386T:p.Q796X;CCDC178:NM_198995:exon20:c.C2272T:p.Q758X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon19:c.C2386T:p.Q796X;ENSG00000166960:ENST00000583930:exon20:c.C2386T:p.Q796X;ENSG00000166960:ENST00000383096:exon21:c.C2386T:p.Q796X;ENSG00000166960:ENST00000300227:exon20:c.C2272T:p.Q758X;ENSG00000166960:ENST00000403303:exon20:c.C2386T:p.Q796X;ENSG00000166960:ENST00000579947:exon21:c.C2386T:p.Q796X;	0.888280848501046	0.728
18	30672727	G	C	18	33092763	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.C2386G:p.Q796E;CCDC178:NM_198995:exon20:c.C2272G:p.Q758E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.C2386G:p.Q796E;ENSG00000166960:ENST00000583930:exon20:c.C2386G:p.Q796E;ENSG00000166960:ENST00000383096:exon21:c.C2386G:p.Q796E;ENSG00000166960:ENST00000300227:exon20:c.C2272G:p.Q758E;ENSG00000166960:ENST00000403303:exon20:c.C2386G:p.Q796E;ENSG00000166960:ENST00000579947:exon21:c.C2386G:p.Q796E;	0.00152667818289315	0.134
18	30672727	G	T	18	33092763	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.C2386A:p.Q796K;CCDC178:NM_198995:exon20:c.C2272A:p.Q758K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.C2386A:p.Q796K;ENSG00000166960:ENST00000583930:exon20:c.C2386A:p.Q796K;ENSG00000166960:ENST00000383096:exon21:c.C2386A:p.Q796K;ENSG00000166960:ENST00000300227:exon20:c.C2272A:p.Q758K;ENSG00000166960:ENST00000403303:exon20:c.C2386A:p.Q796K;ENSG00000166960:ENST00000579947:exon21:c.C2386A:p.Q796K;	8.4729103561989E-4	0.136
18	30672873	T	A	18	33092909	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.A2240T:p.K747I;CCDC178:NM_198995:exon20:c.A2126T:p.K709I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.A2240T:p.K747I;ENSG00000166960:ENST00000583930:exon20:c.A2240T:p.K747I;ENSG00000166960:ENST00000383096:exon21:c.A2240T:p.K747I;ENSG00000166960:ENST00000300227:exon20:c.A2126T:p.K709I;ENSG00000166960:ENST00000403303:exon20:c.A2240T:p.K747I;ENSG00000166960:ENST00000579947:exon21:c.A2240T:p.K747I;	2.23729951414079E-5	0.0
18	30672873	T	C	18	33092909	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.A2240G:p.K747R;CCDC178:NM_198995:exon20:c.A2126G:p.K709R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.A2240G:p.K747R;ENSG00000166960:ENST00000583930:exon20:c.A2240G:p.K747R;ENSG00000166960:ENST00000383096:exon21:c.A2240G:p.K747R;ENSG00000166960:ENST00000300227:exon20:c.A2126G:p.K709R;ENSG00000166960:ENST00000403303:exon20:c.A2240G:p.K747R;ENSG00000166960:ENST00000579947:exon21:c.A2240G:p.K747R;	1.82965722565138E-4	0.02
18	30672873	T	G	18	33092909	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.A2240C:p.K747T;CCDC178:NM_198995:exon20:c.A2126C:p.K709T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.A2240C:p.K747T;ENSG00000166960:ENST00000583930:exon20:c.A2240C:p.K747T;ENSG00000166960:ENST00000383096:exon21:c.A2240C:p.K747T;ENSG00000166960:ENST00000300227:exon20:c.A2126C:p.K709T;ENSG00000166960:ENST00000403303:exon20:c.A2240C:p.K747T;ENSG00000166960:ENST00000579947:exon21:c.A2240C:p.K747T;	6.72557340777961E-5	0.0
18	30672874	T	A	18	33092910	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon20:c.A2239T:p.K747X;CCDC178:NM_198995:exon20:c.A2125T:p.K709X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon19:c.A2239T:p.K747X;ENSG00000166960:ENST00000583930:exon20:c.A2239T:p.K747X;ENSG00000166960:ENST00000383096:exon21:c.A2239T:p.K747X;ENSG00000166960:ENST00000300227:exon20:c.A2125T:p.K709X;ENSG00000166960:ENST00000403303:exon20:c.A2239T:p.K747X;ENSG00000166960:ENST00000579947:exon21:c.A2239T:p.K747X;	2.08891604194026E-4	0.292
18	30672874	T	C	18	33092910	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.A2239G:p.K747E;CCDC178:NM_198995:exon20:c.A2125G:p.K709E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.A2239G:p.K747E;ENSG00000166960:ENST00000583930:exon20:c.A2239G:p.K747E;ENSG00000166960:ENST00000383096:exon21:c.A2239G:p.K747E;ENSG00000166960:ENST00000300227:exon20:c.A2125G:p.K709E;ENSG00000166960:ENST00000403303:exon20:c.A2239G:p.K747E;ENSG00000166960:ENST00000579947:exon21:c.A2239G:p.K747E;	4.37879995698541E-5	0.01
18	30672874	T	G	18	33092910	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon20:c.A2239C:p.K747Q;CCDC178:NM_198995:exon20:c.A2125C:p.K709Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon19:c.A2239C:p.K747Q;ENSG00000166960:ENST00000583930:exon20:c.A2239C:p.K747Q;ENSG00000166960:ENST00000383096:exon21:c.A2239C:p.K747Q;ENSG00000166960:ENST00000300227:exon20:c.A2125C:p.K709Q;ENSG00000166960:ENST00000403303:exon20:c.A2239C:p.K747Q;ENSG00000166960:ENST00000579947:exon21:c.A2239C:p.K747Q;	6.74173379901174E-4	0.03
18	30672875	C	A	18	33092911	y	y	splicing	CCDC178(NM_001105528:exon21:c.2239-1G>T;NM_198995:exon21:c.2125-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2239-1G>T;ENST00000383096:exon22:c.2239-1G>T;ENST00000300227:exon21:c.2125-1G>T;ENST00000406524:exon20:c.2239-1G>T;ENST00000583930:exon21:c.2239-1G>T;ENST00000579947:exon22:c.2239-1G>T)	.	.	0.999977162774916	0.884
18	30672875	C	G	18	33092911	y	y	splicing	CCDC178(NM_001105528:exon21:c.2239-1G>C;NM_198995:exon21:c.2125-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2239-1G>C;ENST00000383096:exon22:c.2239-1G>C;ENST00000300227:exon21:c.2125-1G>C;ENST00000406524:exon20:c.2239-1G>C;ENST00000583930:exon21:c.2239-1G>C;ENST00000579947:exon22:c.2239-1G>C)	.	.	0.999974785031454	0.878
18	30672875	C	T	18	33092911	y	y	splicing	CCDC178(NM_001105528:exon21:c.2239-1G>A;NM_198995:exon21:c.2125-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2239-1G>A;ENST00000383096:exon22:c.2239-1G>A;ENST00000300227:exon21:c.2125-1G>A;ENST00000406524:exon20:c.2239-1G>A;ENST00000583930:exon21:c.2239-1G>A;ENST00000579947:exon22:c.2239-1G>A)	.	.	0.999977162774916	0.864
18	30672876	T	A	18	33092912	y	y	splicing	CCDC178(NM_001105528:exon21:c.2239-2A>T;NM_198995:exon21:c.2125-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2239-2A>T;ENST00000383096:exon22:c.2239-2A>T;ENST00000300227:exon21:c.2125-2A>T;ENST00000406524:exon20:c.2239-2A>T;ENST00000583930:exon21:c.2239-2A>T;ENST00000579947:exon22:c.2239-2A>T)	.	.	0.999834701215816	0.738
18	30672876	T	C	18	33092912	y	y	splicing	CCDC178(NM_001105528:exon21:c.2239-2A>G;NM_198995:exon21:c.2125-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2239-2A>G;ENST00000383096:exon22:c.2239-2A>G;ENST00000300227:exon21:c.2125-2A>G;ENST00000406524:exon20:c.2239-2A>G;ENST00000583930:exon21:c.2239-2A>G;ENST00000579947:exon22:c.2239-2A>G)	.	.	0.999869390159362	0.726
18	30672876	T	G	18	33092912	y	y	splicing	CCDC178(NM_001105528:exon21:c.2239-2A>C;NM_198995:exon21:c.2125-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon21:c.2239-2A>C;ENST00000383096:exon22:c.2239-2A>C;ENST00000300227:exon21:c.2125-2A>C;ENST00000406524:exon20:c.2239-2A>C;ENST00000583930:exon21:c.2239-2A>C;ENST00000579947:exon22:c.2239-2A>C)	.	.	0.999869390159362	0.726
18	30672877	A	C	18	33092913	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.997305751867521	0.682
18	30672877	A	G	18	33092913	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.91018658272186E-5	0.026
18	30672877	A	T	18	33092913	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.320810757675184	0.298
18	30672878	G	A	18	33092914	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.94845668210634E-5	0.002
18	30672878	G	C	18	33092914	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.98311716789619E-4	0.006
18	30672878	G	T	18	33092914	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.03510209381114E-4	0.002
18	30672879	A	C	18	33092915	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.100579633768473	0.364
18	30672879	A	G	18	33092915	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00153148750386609	0.104
18	30672879	A	T	18	33092915	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0302649829138516	0.34
18	30672880	A	C	18	33092916	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0101119285828494	0.146
18	30672880	A	G	18	33092916	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.06883198128523E-4	0.026
18	30672880	A	T	18	33092916	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00208222977718548	0.108
18	30672881	G	A	18	33092917	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.94752771412902E-5	0.002
18	30672881	G	C	18	33092917	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.96182948945778E-4	0.048
18	30672881	G	T	18	33092917	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.04867860694841E-4	0.036
18	30672882	G	A	18	33092918	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.45401799315892E-5	0.032
18	30672882	G	C	18	33092918	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998195623825277	0.972
18	30672882	G	T	18	33092918	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.92105157327501E-4	0.046
18	30672883	T	A	18	33092919	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.85728362848363E-5	0.0
18	30672883	T	C	18	33092919	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.01033672502834E-5	0.002
18	30672883	T	G	18	33092919	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.57251051683336E-5	0.006
18	30672884	A	C	18	33092920	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00380701134617556	0.154
18	30672884	A	G	18	33092920	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.55469715496822E-4	0.014
18	30672884	A	T	18	33092920	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00486227659264088	0.136
18	30672885	A	C	18	33092921	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.10334693479636E-4	0.182
18	30672885	A	G	18	33092921	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.55234881594671E-4	0.03
18	30672885	A	T	18	33092921	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00207767158184233	0.192
18	30672886	A	C	18	33092922	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00110249271069905	0.128
18	30672886	A	G	18	33092922	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.01222031386252E-4	0.044
18	30672886	A	T	18	33092922	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.51675239084161E-4	0.094
18	30715983	A	C	18	33136019	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.455930068921E-5	0.008
18	30715983	A	G	18	33136019	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.455930068921E-5	0.006
18	30715983	A	T	18	33136019	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.455930068921E-5	0.006
18	30715984	A	C	18	33136020	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.07626055534042E-5	0.018
18	30715984	A	G	18	33136020	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.07626055534042E-5	0.018
18	30715984	A	T	18	33136020	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.07626055534042E-5	0.018
18	30715985	A	C	18	33136021	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.256915070725E-5	0.0
18	30715985	A	G	18	33136021	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.256915070725E-5	0.0
18	30715985	A	T	18	33136021	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.1020973109669E-5	0.0
18	30715986	C	A	18	33136022	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.80787742580909E-5	0.0
18	30715986	C	G	18	33136022	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.80787742580909E-5	0.0
18	30715986	C	T	18	33136022	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.80787742580909E-5	0.0
18	30715987	T	A	18	33136023	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.31078313456842E-5	0.0
18	30715987	T	C	18	33136023	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.31078313456842E-5	0.0
18	30715987	T	G	18	33136023	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.31078313456842E-5	0.0
18	30715988	C	A	18	33136024	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.19415310822882E-5	0.006
18	30715988	C	G	18	33136024	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.19415310822882E-5	0.006
18	30715988	C	T	18	33136024	n	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.19415310822882E-5	0.008
18	30715989	A	C	18	33136025	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000581852:exon2:c.3+2T>G)	.	.	9.49551173556722E-4	0.006
18	30715989	A	G	18	33136025	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000581852:exon2:c.3+2T>C)	.	.	9.49551173556722E-4	0.006
18	30715989	A	T	18	33136025	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000581852:exon2:c.3+2T>A)	.	.	0.0012164450463803	0.006
18	30715990	C	A	18	33136026	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000581852:exon2:c.3+1G>T)	.	.	7.10138825602451E-5	0.002
18	30715990	C	G	18	33136026	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000581852:exon2:c.3+1G>C)	.	.	7.10138825602451E-5	0.0
18	30715990	C	T	18	33136026	n	y	intronic	CCDC178	.	.	splicing	ENSG00000166960(ENST00000581852:exon2:c.3+1G>A)	.	.	7.10138825602451E-5	0.0
18	30715991	C	A	18	33136027	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.G3T:p.M1I;	1.74480241737554E-4	0.0
18	30715991	C	G	18	33136027	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.G3C:p.M1I;	1.74480241737554E-4	0.0
18	30715991	C	T	18	33136027	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.G3A:p.M1I;	3.23670744562471E-4	0.0
18	30715992	A	C	18	33136028	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.T2G:p.M1R;	3.84729574776877E-5	0.0
18	30715992	A	G	18	33136028	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.T2C:p.M1T;	5.14469246767614E-5	0.02
18	30715992	A	T	18	33136028	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.T2A:p.M1K;	3.1877777554816E-5	0.0
18	30715993	T	A	18	33136029	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.A1T:p.M1L;	9.92342182898636E-5	0.004
18	30715993	T	C	18	33136029	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.A1G:p.M1V;	6.25580661932895E-5	0.006
18	30715993	T	G	18	33136029	n	y	intronic	CCDC178	.	.	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000581852:exon1:c.A1C:p.M1L;	6.90446143668106E-5	0.004
18	30791852	A	C	18	33211888	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.40741713087429E-4	0.0
18	30791852	A	G	18	33211888	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.48822903802043E-4	0.0
18	30791852	A	T	18	33211888	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.88412718836221E-4	0.0
18	30791853	T	A	18	33211889	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.5189022253349E-5	0.074
18	30791853	T	C	18	33211889	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.89288583845284E-5	0.0
18	30791853	T	G	18	33211889	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.70645514877714E-5	0.002
18	30791854	A	C	18	33211890	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.623756417527686	0.514
18	30791854	A	G	18	33211890	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.709133430282253	0.562
18	30791854	A	T	18	33211890	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.985817826380925	0.626
18	30791855	C	A	18	33211891	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999973798382213	0.97
18	30791855	C	G	18	33211891	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999980760821276	0.972
18	30791855	C	T	18	33211891	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999849253296066	0.904
18	30791856	T	A	18	33211892	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.981077562869854	0.76
18	30791856	T	C	18	33211892	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.984593691484626	0.79
18	30791856	T	G	18	33211892	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.581665428794243	0.564
18	30791857	C	A	18	33211893	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.174802408751634	0.372
18	30791857	C	G	18	33211893	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.392781372999448	0.438
18	30791857	C	T	18	33211893	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.68636615045185E-5	0.0
18	30791858	A	C	18	33211894	y	y	splicing	CCDC178(NM_001105528:exon20:c.2238+2T>G;NM_198995:exon20:c.2124+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2238+2T>G;ENST00000581524:exon8:c.879+2T>G;ENST00000383096:exon21:c.2238+2T>G;ENST00000300227:exon20:c.2124+2T>G;ENST00000406524:exon19:c.2238+2T>G;ENST00000583930:exon20:c.2238+2T>G;ENST00000402325:exon19:c.2238+2T>G;ENST00000579947:exon21:c.2238+2T>G)	.	.	0.999963671976247	0.914
18	30791858	A	G	18	33211894	y	y	splicing	CCDC178(NM_001105528:exon20:c.2238+2T>C;NM_198995:exon20:c.2124+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2238+2T>C;ENST00000581524:exon8:c.879+2T>C;ENST00000383096:exon21:c.2238+2T>C;ENST00000300227:exon20:c.2124+2T>C;ENST00000406524:exon19:c.2238+2T>C;ENST00000583930:exon20:c.2238+2T>C;ENST00000402325:exon19:c.2238+2T>C;ENST00000579947:exon21:c.2238+2T>C)	.	.	0.999800234899037	0.834
18	30791858	A	T	18	33211894	y	y	splicing	CCDC178(NM_001105528:exon20:c.2238+2T>A;NM_198995:exon20:c.2124+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2238+2T>A;ENST00000581524:exon8:c.879+2T>A;ENST00000383096:exon21:c.2238+2T>A;ENST00000300227:exon20:c.2124+2T>A;ENST00000406524:exon19:c.2238+2T>A;ENST00000583930:exon20:c.2238+2T>A;ENST00000402325:exon19:c.2238+2T>A;ENST00000579947:exon21:c.2238+2T>A)	.	.	0.999964896440643	0.932
18	30791859	C	A	18	33211895	y	y	splicing	CCDC178(NM_001105528:exon20:c.2238+1G>T;NM_198995:exon20:c.2124+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2238+1G>T;ENST00000581524:exon8:c.879+1G>T;ENST00000383096:exon21:c.2238+1G>T;ENST00000300227:exon20:c.2124+1G>T;ENST00000406524:exon19:c.2238+1G>T;ENST00000583930:exon20:c.2238+1G>T;ENST00000402325:exon19:c.2238+1G>T;ENST00000579947:exon21:c.2238+1G>T)	.	.	0.999945530492988	0.906
18	30791859	C	G	18	33211895	y	y	splicing	CCDC178(NM_001105528:exon20:c.2238+1G>C;NM_198995:exon20:c.2124+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2238+1G>C;ENST00000581524:exon8:c.879+1G>C;ENST00000383096:exon21:c.2238+1G>C;ENST00000300227:exon20:c.2124+1G>C;ENST00000406524:exon19:c.2238+1G>C;ENST00000583930:exon20:c.2238+1G>C;ENST00000402325:exon19:c.2238+1G>C;ENST00000579947:exon21:c.2238+1G>C)	.	.	0.99996748057446	0.904
18	30791859	C	T	18	33211895	y	y	splicing	CCDC178(NM_001105528:exon20:c.2238+1G>A;NM_198995:exon20:c.2124+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2238+1G>A;ENST00000581524:exon8:c.879+1G>A;ENST00000383096:exon21:c.2238+1G>A;ENST00000300227:exon20:c.2124+1G>A;ENST00000406524:exon19:c.2238+1G>A;ENST00000583930:exon20:c.2238+1G>A;ENST00000402325:exon19:c.2238+1G>A;ENST00000579947:exon21:c.2238+1G>A)	.	.	0.999958812450268	0.926
18	30791860	T	A	18	33211896	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.A2238T:p.Q746H;CCDC178:NM_198995:exon19:c.A2124T:p.Q708H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2238T:p.Q746H;ENSG00000166960:ENST00000402325:exon18:c.A2238T:p.Q746H;ENSG00000166960:ENST00000583930:exon19:c.A2238T:p.Q746H;ENSG00000166960:ENST00000383096:exon20:c.A2238T:p.Q746H;ENSG00000166960:ENST00000300227:exon19:c.A2124T:p.Q708H;ENSG00000166960:ENST00000403303:exon19:c.A2238T:p.Q746H;ENSG00000166960:ENST00000581524:exon7:c.A879T:p.Q293H;ENSG00000166960:ENST00000579947:exon20:c.A2238T:p.Q746H;	1.32761135329392E-4	0.008
18	30791860	T	C	18	33211896	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon19:c.A2238G:p.Q746Q;CCDC178:NM_198995:exon19:c.A2124G:p.Q708Q;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2238G:p.Q746Q;ENSG00000166960:ENST00000402325:exon18:c.A2238G:p.Q746Q;ENSG00000166960:ENST00000583930:exon19:c.A2238G:p.Q746Q;ENSG00000166960:ENST00000383096:exon20:c.A2238G:p.Q746Q;ENSG00000166960:ENST00000300227:exon19:c.A2124G:p.Q708Q;ENSG00000166960:ENST00000403303:exon19:c.A2238G:p.Q746Q;ENSG00000166960:ENST00000581524:exon7:c.A879G:p.Q293Q;ENSG00000166960:ENST00000579947:exon20:c.A2238G:p.Q746Q;	3.30614890030334E-5	0.03
18	30791860	T	G	18	33211896	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.A2238C:p.Q746H;CCDC178:NM_198995:exon19:c.A2124C:p.Q708H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2238C:p.Q746H;ENSG00000166960:ENST00000402325:exon18:c.A2238C:p.Q746H;ENSG00000166960:ENST00000583930:exon19:c.A2238C:p.Q746H;ENSG00000166960:ENST00000383096:exon20:c.A2238C:p.Q746H;ENSG00000166960:ENST00000300227:exon19:c.A2124C:p.Q708H;ENSG00000166960:ENST00000403303:exon19:c.A2238C:p.Q746H;ENSG00000166960:ENST00000581524:exon7:c.A879C:p.Q293H;ENSG00000166960:ENST00000579947:exon20:c.A2238C:p.Q746H;	2.34804234922182E-5	0.004
18	30791861	T	A	18	33211897	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.A2237T:p.Q746L;CCDC178:NM_198995:exon19:c.A2123T:p.Q708L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2237T:p.Q746L;ENSG00000166960:ENST00000402325:exon18:c.A2237T:p.Q746L;ENSG00000166960:ENST00000583930:exon19:c.A2237T:p.Q746L;ENSG00000166960:ENST00000383096:exon20:c.A2237T:p.Q746L;ENSG00000166960:ENST00000300227:exon19:c.A2123T:p.Q708L;ENSG00000166960:ENST00000403303:exon19:c.A2237T:p.Q746L;ENSG00000166960:ENST00000581524:exon7:c.A878T:p.Q293L;ENSG00000166960:ENST00000579947:exon20:c.A2237T:p.Q746L;	0.0526098107369726	0.404
18	30791861	T	C	18	33211897	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.A2237G:p.Q746R;CCDC178:NM_198995:exon19:c.A2123G:p.Q708R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2237G:p.Q746R;ENSG00000166960:ENST00000402325:exon18:c.A2237G:p.Q746R;ENSG00000166960:ENST00000583930:exon19:c.A2237G:p.Q746R;ENSG00000166960:ENST00000383096:exon20:c.A2237G:p.Q746R;ENSG00000166960:ENST00000300227:exon19:c.A2123G:p.Q708R;ENSG00000166960:ENST00000403303:exon19:c.A2237G:p.Q746R;ENSG00000166960:ENST00000581524:exon7:c.A878G:p.Q293R;ENSG00000166960:ENST00000579947:exon20:c.A2237G:p.Q746R;	0.00695084087657224	0.26
18	30791861	T	G	18	33211897	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.A2237C:p.Q746P;CCDC178:NM_198995:exon19:c.A2123C:p.Q708P;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2237C:p.Q746P;ENSG00000166960:ENST00000402325:exon18:c.A2237C:p.Q746P;ENSG00000166960:ENST00000583930:exon19:c.A2237C:p.Q746P;ENSG00000166960:ENST00000383096:exon20:c.A2237C:p.Q746P;ENSG00000166960:ENST00000300227:exon19:c.A2123C:p.Q708P;ENSG00000166960:ENST00000403303:exon19:c.A2237C:p.Q746P;ENSG00000166960:ENST00000581524:exon7:c.A878C:p.Q293P;ENSG00000166960:ENST00000579947:exon20:c.A2237C:p.Q746P;	0.0192559297446218	0.416
18	30791862	G	A	18	33211898	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon19:c.C2236T:p.Q746X;CCDC178:NM_198995:exon19:c.C2122T:p.Q708X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon18:c.C2236T:p.Q746X;ENSG00000166960:ENST00000402325:exon18:c.C2236T:p.Q746X;ENSG00000166960:ENST00000583930:exon19:c.C2236T:p.Q746X;ENSG00000166960:ENST00000383096:exon20:c.C2236T:p.Q746X;ENSG00000166960:ENST00000300227:exon19:c.C2122T:p.Q708X;ENSG00000166960:ENST00000403303:exon19:c.C2236T:p.Q746X;ENSG00000166960:ENST00000581524:exon7:c.C877T:p.Q293X;ENSG00000166960:ENST00000579947:exon20:c.C2236T:p.Q746X;	0.167483883665556	0.44
18	30791862	G	C	18	33211898	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.C2236G:p.Q746E;CCDC178:NM_198995:exon19:c.C2122G:p.Q708E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.C2236G:p.Q746E;ENSG00000166960:ENST00000402325:exon18:c.C2236G:p.Q746E;ENSG00000166960:ENST00000583930:exon19:c.C2236G:p.Q746E;ENSG00000166960:ENST00000383096:exon20:c.C2236G:p.Q746E;ENSG00000166960:ENST00000300227:exon19:c.C2122G:p.Q708E;ENSG00000166960:ENST00000403303:exon19:c.C2236G:p.Q746E;ENSG00000166960:ENST00000581524:exon7:c.C877G:p.Q293E;ENSG00000166960:ENST00000579947:exon20:c.C2236G:p.Q746E;	5.91773360978035E-5	0.044
18	30791862	G	T	18	33211898	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.C2236A:p.Q746K;CCDC178:NM_198995:exon19:c.C2122A:p.Q708K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.C2236A:p.Q746K;ENSG00000166960:ENST00000402325:exon18:c.C2236A:p.Q746K;ENSG00000166960:ENST00000583930:exon19:c.C2236A:p.Q746K;ENSG00000166960:ENST00000383096:exon20:c.C2236A:p.Q746K;ENSG00000166960:ENST00000300227:exon19:c.C2122A:p.Q708K;ENSG00000166960:ENST00000403303:exon19:c.C2236A:p.Q746K;ENSG00000166960:ENST00000581524:exon7:c.C877A:p.Q293K;ENSG00000166960:ENST00000579947:exon20:c.C2236A:p.Q746K;	3.10213980422312E-5	0.012
18	30792018	T	A	18	33212054	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.A2080T:p.N694Y;CCDC178:NM_198995:exon19:c.A1966T:p.N656Y;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2080T:p.N694Y;ENSG00000166960:ENST00000402325:exon18:c.A2080T:p.N694Y;ENSG00000166960:ENST00000583930:exon19:c.A2080T:p.N694Y;ENSG00000166960:ENST00000383096:exon20:c.A2080T:p.N694Y;ENSG00000166960:ENST00000300227:exon19:c.A1966T:p.N656Y;ENSG00000166960:ENST00000403303:exon19:c.A2080T:p.N694Y;ENSG00000166960:ENST00000581524:exon7:c.A721T:p.N241Y;ENSG00000166960:ENST00000579947:exon20:c.A2080T:p.N694Y;	1.63127057258705E-5	0.0
18	30792018	T	C	18	33212054	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.A2080G:p.N694D;CCDC178:NM_198995:exon19:c.A1966G:p.N656D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2080G:p.N694D;ENSG00000166960:ENST00000402325:exon18:c.A2080G:p.N694D;ENSG00000166960:ENST00000583930:exon19:c.A2080G:p.N694D;ENSG00000166960:ENST00000383096:exon20:c.A2080G:p.N694D;ENSG00000166960:ENST00000300227:exon19:c.A1966G:p.N656D;ENSG00000166960:ENST00000403303:exon19:c.A2080G:p.N694D;ENSG00000166960:ENST00000581524:exon7:c.A721G:p.N241D;ENSG00000166960:ENST00000579947:exon20:c.A2080G:p.N694D;	6.53686422664763E-5	0.014
18	30792018	T	G	18	33212054	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.A2080C:p.N694H;CCDC178:NM_198995:exon19:c.A1966C:p.N656H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.A2080C:p.N694H;ENSG00000166960:ENST00000402325:exon18:c.A2080C:p.N694H;ENSG00000166960:ENST00000583930:exon19:c.A2080C:p.N694H;ENSG00000166960:ENST00000383096:exon20:c.A2080C:p.N694H;ENSG00000166960:ENST00000300227:exon19:c.A1966C:p.N656H;ENSG00000166960:ENST00000403303:exon19:c.A2080C:p.N694H;ENSG00000166960:ENST00000581524:exon7:c.A721C:p.N241H;ENSG00000166960:ENST00000579947:exon20:c.A2080C:p.N694H;	7.17846065468655E-5	0.0
18	30792019	C	A	18	33212055	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.G2079T:p.K693N;CCDC178:NM_198995:exon19:c.G1965T:p.K655N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.G2079T:p.K693N;ENSG00000166960:ENST00000402325:exon18:c.G2079T:p.K693N;ENSG00000166960:ENST00000583930:exon19:c.G2079T:p.K693N;ENSG00000166960:ENST00000383096:exon20:c.G2079T:p.K693N;ENSG00000166960:ENST00000300227:exon19:c.G1965T:p.K655N;ENSG00000166960:ENST00000403303:exon19:c.G2079T:p.K693N;ENSG00000166960:ENST00000581524:exon7:c.G720T:p.K240N;ENSG00000166960:ENST00000579947:exon20:c.G2079T:p.K693N;	0.508982060491201	0.376
18	30792019	C	G	18	33212055	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon19:c.G2079C:p.K693N;CCDC178:NM_198995:exon19:c.G1965C:p.K655N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.G2079C:p.K693N;ENSG00000166960:ENST00000402325:exon18:c.G2079C:p.K693N;ENSG00000166960:ENST00000583930:exon19:c.G2079C:p.K693N;ENSG00000166960:ENST00000383096:exon20:c.G2079C:p.K693N;ENSG00000166960:ENST00000300227:exon19:c.G1965C:p.K655N;ENSG00000166960:ENST00000403303:exon19:c.G2079C:p.K693N;ENSG00000166960:ENST00000581524:exon7:c.G720C:p.K240N;ENSG00000166960:ENST00000579947:exon20:c.G2079C:p.K693N;	0.00895472772023593	0.262
18	30792019	C	T	18	33212055	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon19:c.G2079A:p.K693K;CCDC178:NM_198995:exon19:c.G1965A:p.K655K;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon18:c.G2079A:p.K693K;ENSG00000166960:ENST00000402325:exon18:c.G2079A:p.K693K;ENSG00000166960:ENST00000583930:exon19:c.G2079A:p.K693K;ENSG00000166960:ENST00000383096:exon20:c.G2079A:p.K693K;ENSG00000166960:ENST00000300227:exon19:c.G1965A:p.K655K;ENSG00000166960:ENST00000403303:exon19:c.G2079A:p.K693K;ENSG00000166960:ENST00000581524:exon7:c.G720A:p.K240K;ENSG00000166960:ENST00000579947:exon20:c.G2079A:p.K693K;	3.57587105809455E-4	0.162
18	30792020	C	A	18	33212056	y	y	splicing	CCDC178(NM_001105528:exon20:c.2079-1G>T;NM_198995:exon20:c.1965-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2079-1G>T;ENST00000581524:exon8:c.720-1G>T;ENST00000383096:exon21:c.2079-1G>T;ENST00000300227:exon20:c.1965-1G>T;ENST00000406524:exon19:c.2079-1G>T;ENST00000583930:exon20:c.2079-1G>T;ENST00000402325:exon19:c.2079-1G>T;ENST00000579947:exon21:c.2079-1G>T)	.	.	0.999960200702261	0.938
18	30792020	C	G	18	33212056	y	y	splicing	CCDC178(NM_001105528:exon20:c.2079-1G>C;NM_198995:exon20:c.1965-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2079-1G>C;ENST00000581524:exon8:c.720-1G>C;ENST00000383096:exon21:c.2079-1G>C;ENST00000300227:exon20:c.1965-1G>C;ENST00000406524:exon19:c.2079-1G>C;ENST00000583930:exon20:c.2079-1G>C;ENST00000402325:exon19:c.2079-1G>C;ENST00000579947:exon21:c.2079-1G>C)	.	.	0.999945530492988	0.89
18	30792020	C	T	18	33212056	y	y	splicing	CCDC178(NM_001105528:exon20:c.2079-1G>A;NM_198995:exon20:c.1965-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2079-1G>A;ENST00000581524:exon8:c.720-1G>A;ENST00000383096:exon21:c.2079-1G>A;ENST00000300227:exon20:c.1965-1G>A;ENST00000406524:exon19:c.2079-1G>A;ENST00000583930:exon20:c.2079-1G>A;ENST00000402325:exon19:c.2079-1G>A;ENST00000579947:exon21:c.2079-1G>A)	.	.	0.999960200702261	0.94
18	30792021	T	A	18	33212057	y	y	splicing	CCDC178(NM_001105528:exon20:c.2079-2A>T;NM_198995:exon20:c.1965-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2079-2A>T;ENST00000581524:exon8:c.720-2A>T;ENST00000383096:exon21:c.2079-2A>T;ENST00000300227:exon20:c.1965-2A>T;ENST00000406524:exon19:c.2079-2A>T;ENST00000583930:exon20:c.2079-2A>T;ENST00000402325:exon19:c.2079-2A>T;ENST00000579947:exon21:c.2079-2A>T)	.	.	0.999978156327223	0.932
18	30792021	T	C	18	33212057	y	y	splicing	CCDC178(NM_001105528:exon20:c.2079-2A>G;NM_198995:exon20:c.1965-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2079-2A>G;ENST00000581524:exon8:c.720-2A>G;ENST00000383096:exon21:c.2079-2A>G;ENST00000300227:exon20:c.1965-2A>G;ENST00000406524:exon19:c.2079-2A>G;ENST00000583930:exon20:c.2079-2A>G;ENST00000402325:exon19:c.2079-2A>G;ENST00000579947:exon21:c.2079-2A>G)	.	.	0.999978156327223	0.93
18	30792021	T	G	18	33212057	y	y	splicing	CCDC178(NM_001105528:exon20:c.2079-2A>C;NM_198995:exon20:c.1965-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon20:c.2079-2A>C;ENST00000581524:exon8:c.720-2A>C;ENST00000383096:exon21:c.2079-2A>C;ENST00000300227:exon20:c.1965-2A>C;ENST00000406524:exon19:c.2079-2A>C;ENST00000583930:exon20:c.2079-2A>C;ENST00000402325:exon19:c.2079-2A>C;ENST00000579947:exon21:c.2079-2A>C)	.	.	0.999978156327223	0.93
18	30792022	G	A	18	33212058	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.15644478388515E-4	0.008
18	30792022	G	C	18	33212058	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.994715169535138	0.694
18	30792022	G	T	18	33212058	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.229715043376777	0.36
18	30792023	T	A	18	33212059	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.92099835477386E-5	0.014
18	30792023	T	C	18	33212059	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.20082107726441E-5	0.01
18	30792023	T	G	18	33212059	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.97624354177023E-5	0.0
18	30792024	G	A	18	33212060	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.66658480184942E-5	0.0
18	30792024	G	C	18	33212060	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.25987109584028E-4	0.024
18	30792024	G	T	18	33212060	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.0136329176308E-4	0.056
18	30792025	A	C	18	33212061	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0112517377537506	0.128
18	30792025	A	G	18	33212061	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.28786790778169E-5	0.042
18	30792025	A	T	18	33212061	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00288412067761184	0.09
18	30792026	A	C	18	33212062	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00127310376556086	0.06
18	30792026	A	G	18	33212062	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.14120755989179E-5	0.0
18	30792026	A	T	18	33212062	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00494462448900484	0.086
18	30792027	G	A	18	33212063	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.78420108862377E-5	0.01
18	30792027	G	C	18	33212063	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.80376322824835E-4	0.016
18	30792027	G	T	18	33212063	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00682986216905533	0.076
18	30792028	A	C	18	33212064	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0769096100597927	0.26
18	30792028	A	G	18	33212064	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00264209977597763	0.042
18	30792028	A	T	18	33212064	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0713160699501522	0.312
18	30792029	A	C	18	33212065	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0162404519119416	0.22
18	30792029	A	G	18	33212065	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00259148585125002	0.04
18	30792029	A	T	18	33212065	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0564131256104531	0.244
18	30792030	A	C	18	33212066	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.98193314629372E-4	0.054
18	30792030	A	G	18	33212066	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.42794838627014E-4	0.004
18	30792030	A	T	18	33212066	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00271737873672764	0.086
18	30792031	G	A	18	33212067	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.90998303420855E-5	0.0
18	30792031	G	C	18	33212067	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.60296269201205E-4	0.004
18	30792031	G	T	18	33212067	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.11958809557754E-4	0.068
18	30795506	G	A	18	33215542	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.4607950424781E-6	0.0
18	30795506	G	C	18	33215542	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.33984070840462E-5	0.008
18	30795506	G	T	18	33215542	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.08403561520046E-5	0.0
18	30795507	T	A	18	33215543	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.39917563809086E-5	0.002
18	30795507	T	C	18	33215543	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.01013439590033E-5	0.002
18	30795507	T	G	18	33215543	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.01013439590033E-5	0.004
18	30795508	A	C	18	33215544	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.117063218487907	0.41
18	30795508	A	G	18	33215544	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.305851667068445	0.464
18	30795508	A	T	18	33215544	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.405226839747197	0.442
18	30795509	C	A	18	33215545	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999217685414831	0.882
18	30795509	C	G	18	33215545	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.995079206666736	0.862
18	30795509	C	T	18	33215545	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.996284805990906	0.888
18	30795510	T	A	18	33215546	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.982515269290003	0.688
18	30795510	T	C	18	33215546	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.959445638521966	0.708
18	30795510	T	G	18	33215546	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.878518394052497	0.526
18	30795511	T	A	18	33215547	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.985541306375633	0.688
18	30795511	T	C	18	33215547	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00778186991833421	0.144
18	30795511	T	G	18	33215547	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999630077753755	0.806
18	30795512	A	C	18	33215548	y	y	splicing	CCDC178(NM_001105528:exon19:c.2078+2T>G;NM_198995:exon19:c.1964+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.2078+2T>G;ENST00000581524:exon7:c.719+2T>G;ENST00000383096:exon20:c.2078+2T>G;ENST00000300227:exon19:c.1964+2T>G;ENST00000406524:exon18:c.2078+2T>G;ENST00000583930:exon19:c.2078+2T>G;ENST00000402325:exon18:c.2078+2T>G;ENST00000579947:exon20:c.2078+2T>G)	.	.	0.99996509239462	0.938
18	30795512	A	G	18	33215548	y	y	splicing	CCDC178(NM_001105528:exon19:c.2078+2T>C;NM_198995:exon19:c.1964+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.2078+2T>C;ENST00000581524:exon7:c.719+2T>C;ENST00000383096:exon20:c.2078+2T>C;ENST00000300227:exon19:c.1964+2T>C;ENST00000406524:exon18:c.2078+2T>C;ENST00000583930:exon19:c.2078+2T>C;ENST00000402325:exon18:c.2078+2T>C;ENST00000579947:exon20:c.2078+2T>C)	.	.	0.955315639458846	0.634
18	30795512	A	T	18	33215548	y	y	splicing	CCDC178(NM_001105528:exon19:c.2078+2T>A;NM_198995:exon19:c.1964+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.2078+2T>A;ENST00000581524:exon7:c.719+2T>A;ENST00000383096:exon20:c.2078+2T>A;ENST00000300227:exon19:c.1964+2T>A;ENST00000406524:exon18:c.2078+2T>A;ENST00000583930:exon19:c.2078+2T>A;ENST00000402325:exon18:c.2078+2T>A;ENST00000579947:exon20:c.2078+2T>A)	.	.	0.99996509239462	0.93
18	30795513	C	A	18	33215549	y	y	splicing	CCDC178(NM_001105528:exon19:c.2078+1G>T;NM_198995:exon19:c.1964+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.2078+1G>T;ENST00000581524:exon7:c.719+1G>T;ENST00000383096:exon20:c.2078+1G>T;ENST00000300227:exon19:c.1964+1G>T;ENST00000406524:exon18:c.2078+1G>T;ENST00000583930:exon19:c.2078+1G>T;ENST00000402325:exon18:c.2078+1G>T;ENST00000579947:exon20:c.2078+1G>T)	.	.	0.99994568797423	0.936
18	30795513	C	G	18	33215549	y	y	splicing	CCDC178(NM_001105528:exon19:c.2078+1G>C;NM_198995:exon19:c.1964+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.2078+1G>C;ENST00000581524:exon7:c.719+1G>C;ENST00000383096:exon20:c.2078+1G>C;ENST00000300227:exon19:c.1964+1G>C;ENST00000406524:exon18:c.2078+1G>C;ENST00000583930:exon19:c.2078+1G>C;ENST00000402325:exon18:c.2078+1G>C;ENST00000579947:exon20:c.2078+1G>C)	.	.	0.99994568797423	0.936
18	30795513	C	T	18	33215549	y	y	splicing	CCDC178(NM_001105528:exon19:c.2078+1G>A;NM_198995:exon19:c.1964+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.2078+1G>A;ENST00000581524:exon7:c.719+1G>A;ENST00000383096:exon20:c.2078+1G>A;ENST00000300227:exon19:c.1964+1G>A;ENST00000406524:exon18:c.2078+1G>A;ENST00000583930:exon19:c.2078+1G>A;ENST00000402325:exon18:c.2078+1G>A;ENST00000579947:exon20:c.2078+1G>A)	.	.	0.99994568797423	0.93
18	30795514	T	A	18	33215550	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A2078T:p.K693M;CCDC178:NM_198995:exon18:c.A1964T:p.K655M;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A2078T:p.K693M;ENSG00000166960:ENST00000402325:exon17:c.A2078T:p.K693M;ENSG00000166960:ENST00000583930:exon18:c.A2078T:p.K693M;ENSG00000166960:ENST00000383096:exon19:c.A2078T:p.K693M;ENSG00000166960:ENST00000300227:exon18:c.A1964T:p.K655M;ENSG00000166960:ENST00000403303:exon18:c.A2078T:p.K693M;ENSG00000166960:ENST00000581524:exon6:c.A719T:p.K240M;ENSG00000166960:ENST00000579947:exon19:c.A2078T:p.K693M;	1.67913403280847E-4	0.014
18	30795514	T	C	18	33215550	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A2078G:p.K693R;CCDC178:NM_198995:exon18:c.A1964G:p.K655R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A2078G:p.K693R;ENSG00000166960:ENST00000402325:exon17:c.A2078G:p.K693R;ENSG00000166960:ENST00000583930:exon18:c.A2078G:p.K693R;ENSG00000166960:ENST00000383096:exon19:c.A2078G:p.K693R;ENSG00000166960:ENST00000300227:exon18:c.A1964G:p.K655R;ENSG00000166960:ENST00000403303:exon18:c.A2078G:p.K693R;ENSG00000166960:ENST00000581524:exon6:c.A719G:p.K240R;ENSG00000166960:ENST00000579947:exon19:c.A2078G:p.K693R;	1.92000583759068E-4	0.094
18	30795514	T	G	18	33215550	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A2078C:p.K693T;CCDC178:NM_198995:exon18:c.A1964C:p.K655T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A2078C:p.K693T;ENSG00000166960:ENST00000402325:exon17:c.A2078C:p.K693T;ENSG00000166960:ENST00000583930:exon18:c.A2078C:p.K693T;ENSG00000166960:ENST00000383096:exon19:c.A2078C:p.K693T;ENSG00000166960:ENST00000300227:exon18:c.A1964C:p.K655T;ENSG00000166960:ENST00000403303:exon18:c.A2078C:p.K693T;ENSG00000166960:ENST00000581524:exon6:c.A719C:p.K240T;ENSG00000166960:ENST00000579947:exon19:c.A2078C:p.K693T;	1.26363944731604E-4	0.006
18	30795515	T	A	18	33215551	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon18:c.A2077T:p.K693X;CCDC178:NM_198995:exon18:c.A1963T:p.K655X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon17:c.A2077T:p.K693X;ENSG00000166960:ENST00000402325:exon17:c.A2077T:p.K693X;ENSG00000166960:ENST00000583930:exon18:c.A2077T:p.K693X;ENSG00000166960:ENST00000383096:exon19:c.A2077T:p.K693X;ENSG00000166960:ENST00000300227:exon18:c.A1963T:p.K655X;ENSG00000166960:ENST00000403303:exon18:c.A2077T:p.K693X;ENSG00000166960:ENST00000581524:exon6:c.A718T:p.K240X;ENSG00000166960:ENST00000579947:exon19:c.A2077T:p.K693X;	0.843053082417537	0.596
18	30795515	T	C	18	33215551	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A2077G:p.K693E;CCDC178:NM_198995:exon18:c.A1963G:p.K655E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A2077G:p.K693E;ENSG00000166960:ENST00000402325:exon17:c.A2077G:p.K693E;ENSG00000166960:ENST00000583930:exon18:c.A2077G:p.K693E;ENSG00000166960:ENST00000383096:exon19:c.A2077G:p.K693E;ENSG00000166960:ENST00000300227:exon18:c.A1963G:p.K655E;ENSG00000166960:ENST00000403303:exon18:c.A2077G:p.K693E;ENSG00000166960:ENST00000581524:exon6:c.A718G:p.K240E;ENSG00000166960:ENST00000579947:exon19:c.A2077G:p.K693E;	0.338789759709598	0.306
18	30795515	T	G	18	33215551	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A2077C:p.K693Q;CCDC178:NM_198995:exon18:c.A1963C:p.K655Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A2077C:p.K693Q;ENSG00000166960:ENST00000402325:exon17:c.A2077C:p.K693Q;ENSG00000166960:ENST00000583930:exon18:c.A2077C:p.K693Q;ENSG00000166960:ENST00000383096:exon19:c.A2077C:p.K693Q;ENSG00000166960:ENST00000300227:exon18:c.A1963C:p.K655Q;ENSG00000166960:ENST00000403303:exon18:c.A2077C:p.K693Q;ENSG00000166960:ENST00000581524:exon6:c.A718C:p.K240Q;ENSG00000166960:ENST00000579947:exon19:c.A2077C:p.K693Q;	0.212436831023408	0.524
18	30795516	T	A	18	33215552	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A2076T:p.L692F;CCDC178:NM_198995:exon18:c.A1962T:p.L654F;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A2076T:p.L692F;ENSG00000166960:ENST00000402325:exon17:c.A2076T:p.L692F;ENSG00000166960:ENST00000583930:exon18:c.A2076T:p.L692F;ENSG00000166960:ENST00000383096:exon19:c.A2076T:p.L692F;ENSG00000166960:ENST00000300227:exon18:c.A1962T:p.L654F;ENSG00000166960:ENST00000403303:exon18:c.A2076T:p.L692F;ENSG00000166960:ENST00000581524:exon6:c.A717T:p.L239F;ENSG00000166960:ENST00000579947:exon19:c.A2076T:p.L692F;	0.00212835389751334	0.126
18	30795516	T	C	18	33215552	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon18:c.A2076G:p.L692L;CCDC178:NM_198995:exon18:c.A1962G:p.L654L;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A2076G:p.L692L;ENSG00000166960:ENST00000402325:exon17:c.A2076G:p.L692L;ENSG00000166960:ENST00000583930:exon18:c.A2076G:p.L692L;ENSG00000166960:ENST00000383096:exon19:c.A2076G:p.L692L;ENSG00000166960:ENST00000300227:exon18:c.A1962G:p.L654L;ENSG00000166960:ENST00000403303:exon18:c.A2076G:p.L692L;ENSG00000166960:ENST00000581524:exon6:c.A717G:p.L239L;ENSG00000166960:ENST00000579947:exon19:c.A2076G:p.L692L;	1.0704519134293E-4	0.002
18	30795516	T	G	18	33215552	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A2076C:p.L692F;CCDC178:NM_198995:exon18:c.A1962C:p.L654F;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A2076C:p.L692F;ENSG00000166960:ENST00000402325:exon17:c.A2076C:p.L692F;ENSG00000166960:ENST00000583930:exon18:c.A2076C:p.L692F;ENSG00000166960:ENST00000383096:exon19:c.A2076C:p.L692F;ENSG00000166960:ENST00000300227:exon18:c.A1962C:p.L654F;ENSG00000166960:ENST00000403303:exon18:c.A2076C:p.L692F;ENSG00000166960:ENST00000581524:exon6:c.A717C:p.L239F;ENSG00000166960:ENST00000579947:exon19:c.A2076C:p.L692F;	4.52818462232556E-5	0.0
18	30795658	C	A	18	33215694	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.G1934T:p.S645I;CCDC178:NM_198995:exon18:c.G1820T:p.S607I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.G1934T:p.S645I;ENSG00000166960:ENST00000402325:exon17:c.G1934T:p.S645I;ENSG00000166960:ENST00000583930:exon18:c.G1934T:p.S645I;ENSG00000166960:ENST00000383096:exon19:c.G1934T:p.S645I;ENSG00000166960:ENST00000300227:exon18:c.G1820T:p.S607I;ENSG00000166960:ENST00000403303:exon18:c.G1934T:p.S645I;ENSG00000166960:ENST00000581524:exon6:c.G575T:p.S192I;ENSG00000166960:ENST00000579947:exon19:c.G1934T:p.S645I;	5.98099491317887E-5	0.0
18	30795658	C	G	18	33215694	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.G1934C:p.S645T;CCDC178:NM_198995:exon18:c.G1820C:p.S607T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.G1934C:p.S645T;ENSG00000166960:ENST00000402325:exon17:c.G1934C:p.S645T;ENSG00000166960:ENST00000583930:exon18:c.G1934C:p.S645T;ENSG00000166960:ENST00000383096:exon19:c.G1934C:p.S645T;ENSG00000166960:ENST00000300227:exon18:c.G1820C:p.S607T;ENSG00000166960:ENST00000403303:exon18:c.G1934C:p.S645T;ENSG00000166960:ENST00000581524:exon6:c.G575C:p.S192T;ENSG00000166960:ENST00000579947:exon19:c.G1934C:p.S645T;	5.51332841357434E-5	0.002
18	30795658	C	T	18	33215694	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.G1934A:p.S645N;CCDC178:NM_198995:exon18:c.G1820A:p.S607N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.G1934A:p.S645N;ENSG00000166960:ENST00000402325:exon17:c.G1934A:p.S645N;ENSG00000166960:ENST00000583930:exon18:c.G1934A:p.S645N;ENSG00000166960:ENST00000383096:exon19:c.G1934A:p.S645N;ENSG00000166960:ENST00000300227:exon18:c.G1820A:p.S607N;ENSG00000166960:ENST00000403303:exon18:c.G1934A:p.S645N;ENSG00000166960:ENST00000581524:exon6:c.G575A:p.S192N;ENSG00000166960:ENST00000579947:exon19:c.G1934A:p.S645N;	8.29005254439494E-5	0.0
18	30795659	T	A	18	33215695	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A1933T:p.S645C;CCDC178:NM_198995:exon18:c.A1819T:p.S607C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A1933T:p.S645C;ENSG00000166960:ENST00000402325:exon17:c.A1933T:p.S645C;ENSG00000166960:ENST00000583930:exon18:c.A1933T:p.S645C;ENSG00000166960:ENST00000383096:exon19:c.A1933T:p.S645C;ENSG00000166960:ENST00000300227:exon18:c.A1819T:p.S607C;ENSG00000166960:ENST00000403303:exon18:c.A1933T:p.S645C;ENSG00000166960:ENST00000581524:exon6:c.A574T:p.S192C;ENSG00000166960:ENST00000579947:exon19:c.A1933T:p.S645C;	9.04150110365369E-5	0.002
18	30795659	T	C	18	33215695	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A1933G:p.S645G;CCDC178:NM_198995:exon18:c.A1819G:p.S607G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A1933G:p.S645G;ENSG00000166960:ENST00000402325:exon17:c.A1933G:p.S645G;ENSG00000166960:ENST00000583930:exon18:c.A1933G:p.S645G;ENSG00000166960:ENST00000383096:exon19:c.A1933G:p.S645G;ENSG00000166960:ENST00000300227:exon18:c.A1819G:p.S607G;ENSG00000166960:ENST00000403303:exon18:c.A1933G:p.S645G;ENSG00000166960:ENST00000581524:exon6:c.A574G:p.S192G;ENSG00000166960:ENST00000579947:exon19:c.A1933G:p.S645G;	1.37422158416596E-5	0.002
18	30795659	T	G	18	33215695	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon18:c.A1933C:p.S645R;CCDC178:NM_198995:exon18:c.A1819C:p.S607R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon17:c.A1933C:p.S645R;ENSG00000166960:ENST00000402325:exon17:c.A1933C:p.S645R;ENSG00000166960:ENST00000583930:exon18:c.A1933C:p.S645R;ENSG00000166960:ENST00000383096:exon19:c.A1933C:p.S645R;ENSG00000166960:ENST00000300227:exon18:c.A1819C:p.S607R;ENSG00000166960:ENST00000403303:exon18:c.A1933C:p.S645R;ENSG00000166960:ENST00000581524:exon6:c.A574C:p.S192R;ENSG00000166960:ENST00000579947:exon19:c.A1933C:p.S645R;	9.04150110365369E-5	0.01
18	30795660	C	A	18	33215696	y	y	splicing	CCDC178(NM_001105528:exon19:c.1933-1G>T;NM_198995:exon19:c.1819-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.1933-1G>T;ENST00000581524:exon7:c.574-1G>T;ENST00000383096:exon20:c.1933-1G>T;ENST00000300227:exon19:c.1819-1G>T;ENST00000406524:exon18:c.1933-1G>T;ENST00000583930:exon19:c.1933-1G>T;ENST00000402325:exon18:c.1933-1G>T;ENST00000579947:exon20:c.1933-1G>T)	.	.	0.999938990645747	0.942
18	30795660	C	G	18	33215696	y	y	splicing	CCDC178(NM_001105528:exon19:c.1933-1G>C;NM_198995:exon19:c.1819-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.1933-1G>C;ENST00000581524:exon7:c.574-1G>C;ENST00000383096:exon20:c.1933-1G>C;ENST00000300227:exon19:c.1819-1G>C;ENST00000406524:exon18:c.1933-1G>C;ENST00000583930:exon19:c.1933-1G>C;ENST00000402325:exon18:c.1933-1G>C;ENST00000579947:exon20:c.1933-1G>C)	.	.	0.999938990645747	0.934
18	30795660	C	T	18	33215696	y	y	splicing	CCDC178(NM_001105528:exon19:c.1933-1G>A;NM_198995:exon19:c.1819-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.1933-1G>A;ENST00000581524:exon7:c.574-1G>A;ENST00000383096:exon20:c.1933-1G>A;ENST00000300227:exon19:c.1819-1G>A;ENST00000406524:exon18:c.1933-1G>A;ENST00000583930:exon19:c.1933-1G>A;ENST00000402325:exon18:c.1933-1G>A;ENST00000579947:exon20:c.1933-1G>A)	.	.	0.999938990645747	0.944
18	30795661	T	A	18	33215697	y	y	splicing	CCDC178(NM_001105528:exon19:c.1933-2A>T;NM_198995:exon19:c.1819-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.1933-2A>T;ENST00000581524:exon7:c.574-2A>T;ENST00000383096:exon20:c.1933-2A>T;ENST00000300227:exon19:c.1819-2A>T;ENST00000406524:exon18:c.1933-2A>T;ENST00000583930:exon19:c.1933-2A>T;ENST00000402325:exon18:c.1933-2A>T;ENST00000579947:exon20:c.1933-2A>T)	.	.	0.99994568797423	0.944
18	30795661	T	C	18	33215697	y	y	splicing	CCDC178(NM_001105528:exon19:c.1933-2A>G;NM_198995:exon19:c.1819-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.1933-2A>G;ENST00000581524:exon7:c.574-2A>G;ENST00000383096:exon20:c.1933-2A>G;ENST00000300227:exon19:c.1819-2A>G;ENST00000406524:exon18:c.1933-2A>G;ENST00000583930:exon19:c.1933-2A>G;ENST00000402325:exon18:c.1933-2A>G;ENST00000579947:exon20:c.1933-2A>G)	.	.	0.999946188727699	0.942
18	30795661	T	G	18	33215697	y	y	splicing	CCDC178(NM_001105528:exon19:c.1933-2A>C;NM_198995:exon19:c.1819-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon19:c.1933-2A>C;ENST00000581524:exon7:c.574-2A>C;ENST00000383096:exon20:c.1933-2A>C;ENST00000300227:exon19:c.1819-2A>C;ENST00000406524:exon18:c.1933-2A>C;ENST00000583930:exon19:c.1933-2A>C;ENST00000402325:exon18:c.1933-2A>C;ENST00000579947:exon20:c.1933-2A>C)	.	.	0.999946188727699	0.942
18	30795662	G	A	18	33215698	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00445576976600355	0.128
18	30795662	G	C	18	33215698	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999580025408631	0.962
18	30795662	G	T	18	33215698	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.684098089861409	0.558
18	30795663	A	C	18	33215699	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.43425024462032E-5	0.0
18	30795663	A	G	18	33215699	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.84571393204056E-5	0.004
18	30795663	A	T	18	33215699	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.73634178244129E-5	0.006
18	30795664	A	C	18	33215700	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.786708812643587	0.442
18	30795664	A	G	18	33215700	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.9191049709836E-4	0.006
18	30795664	A	T	18	33215700	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.347800439485549	0.354
18	30795665	A	C	18	33215701	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.390133256136074	0.402
18	30795665	A	G	18	33215701	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.04019327304878E-5	0.002
18	30795665	A	T	18	33215701	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.219700210693235	0.336
18	30795666	A	C	18	33215702	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00522185646919602	0.092
18	30795666	A	G	18	33215702	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.07200825805843E-4	0.0
18	30795666	A	T	18	33215702	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0534420532043701	0.138
18	30795667	A	C	18	33215703	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00317931381321137	0.188
18	30795667	A	G	18	33215703	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.13252141553162E-4	0.004
18	30795667	A	T	18	33215703	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.113254338050714	0.26
18	30795668	A	C	18	33215704	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.37739971634173E-4	0.066
18	30795668	A	G	18	33215704	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.66838304719797E-5	0.0
18	30795668	A	T	18	33215704	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.16377037655924E-4	0.072
18	30795669	A	C	18	33215705	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00176800360501476	0.21
18	30795669	A	G	18	33215705	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.25481574126012E-4	0.004
18	30795669	A	T	18	33215705	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0271842640488381	0.274
18	30795670	A	C	18	33215706	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999340355017645	0.946
18	30795670	A	G	18	33215706	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00175647572645929	0.084
18	30795670	A	T	18	33215706	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.230850902031074	0.434
18	30795671	T	A	18	33215707	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.56731146968303E-5	0.004
18	30795671	T	C	18	33215707	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.03290295491789E-5	0.004
18	30795671	T	G	18	33215707	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.09740216807318E-6	0.0
18	30803062	A	C	18	33223098	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.94788035754117E-5	0.006
18	30803062	A	G	18	33223098	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.26188443234571E-5	0.002
18	30803062	A	T	18	33223098	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.94788035754117E-5	0.002
18	30803063	T	A	18	33223099	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.3649968147279E-5	0.004
18	30803063	T	C	18	33223099	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.3649968147279E-5	0.0
18	30803063	T	G	18	33223099	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.65309565354441E-5	0.002
18	30803064	T	A	18	33223100	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.28606997234552E-4	0.012
18	30803064	T	C	18	33223100	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.3580152443038E-4	0.016
18	30803064	T	G	18	33223100	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.62863148500034E-4	0.062
18	30803065	C	A	18	33223101	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.870133537601183	0.53
18	30803065	C	G	18	33223101	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.799439737617266	0.608
18	30803065	C	T	18	33223101	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.902325727211018	0.528
18	30803066	T	A	18	33223102	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.464156803766669	0.628
18	30803066	T	C	18	33223102	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.587953677671863	0.472
18	30803066	T	G	18	33223102	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.304224970023481	0.506
18	30803067	T	A	18	33223103	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0988967608818584	0.242
18	30803067	T	C	18	33223103	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.24975395066942E-4	0.064
18	30803067	T	G	18	33223103	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0569893468342996	0.224
18	30803068	A	C	18	33223104	y	y	splicing	CCDC178(NM_001105528:exon18:c.1932+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1932+2T>G;ENST00000581524:exon6:c.573+2T>G;ENST00000383096:exon19:c.1932+2T>G;ENST00000406524:exon17:c.1932+2T>G;ENST00000583930:exon18:c.1932+2T>G;ENST00000402325:exon17:c.1932+2T>G;ENST00000579947:exon19:c.1932+2T>G)	.	.	0.99994568797423	0.94
18	30803068	A	G	18	33223104	y	y	splicing	CCDC178(NM_001105528:exon18:c.1932+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1932+2T>C;ENST00000581524:exon6:c.573+2T>C;ENST00000383096:exon19:c.1932+2T>C;ENST00000406524:exon17:c.1932+2T>C;ENST00000583930:exon18:c.1932+2T>C;ENST00000402325:exon17:c.1932+2T>C;ENST00000579947:exon19:c.1932+2T>C)	.	.	0.973697021054677	0.684
18	30803068	A	T	18	33223104	y	y	splicing	CCDC178(NM_001105528:exon18:c.1932+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1932+2T>A;ENST00000581524:exon6:c.573+2T>A;ENST00000383096:exon19:c.1932+2T>A;ENST00000406524:exon17:c.1932+2T>A;ENST00000583930:exon18:c.1932+2T>A;ENST00000402325:exon17:c.1932+2T>A;ENST00000579947:exon19:c.1932+2T>A)	.	.	0.99994568797423	0.93
18	30803069	C	A	18	33223105	y	y	splicing	CCDC178(NM_001105528:exon18:c.1932+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1932+1G>T;ENST00000581524:exon6:c.573+1G>T;ENST00000383096:exon19:c.1932+1G>T;ENST00000406524:exon17:c.1932+1G>T;ENST00000583930:exon18:c.1932+1G>T;ENST00000402325:exon17:c.1932+1G>T;ENST00000579947:exon19:c.1932+1G>T)	.	.	0.99993314117114	0.93
18	30803069	C	G	18	33223105	y	y	splicing	CCDC178(NM_001105528:exon18:c.1932+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1932+1G>C;ENST00000581524:exon6:c.573+1G>C;ENST00000383096:exon19:c.1932+1G>C;ENST00000406524:exon17:c.1932+1G>C;ENST00000583930:exon18:c.1932+1G>C;ENST00000402325:exon17:c.1932+1G>C;ENST00000579947:exon19:c.1932+1G>C)	.	.	0.99993314117114	0.932
18	30803069	C	T	18	33223105	y	y	splicing	CCDC178(NM_001105528:exon18:c.1932+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1932+1G>A;ENST00000581524:exon6:c.573+1G>A;ENST00000383096:exon19:c.1932+1G>A;ENST00000406524:exon17:c.1932+1G>A;ENST00000583930:exon18:c.1932+1G>A;ENST00000402325:exon17:c.1932+1G>A;ENST00000579947:exon19:c.1932+1G>A)	.	.	0.999974090184857	0.93
18	30803070	C	A	18	33223106	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.G1932T:p.E644D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.G1932T:p.E644D;ENSG00000166960:ENST00000402325:exon16:c.G1932T:p.E644D;ENSG00000166960:ENST00000583930:exon17:c.G1932T:p.E644D;ENSG00000166960:ENST00000383096:exon18:c.G1932T:p.E644D;ENSG00000166960:ENST00000403303:exon17:c.G1932T:p.E644D;ENSG00000166960:ENST00000581524:exon5:c.G573T:p.E191D;ENSG00000166960:ENST00000579947:exon18:c.G1932T:p.E644D;	0.984479474016032	0.75
18	30803070	C	G	18	33223106	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.G1932C:p.E644D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.G1932C:p.E644D;ENSG00000166960:ENST00000402325:exon16:c.G1932C:p.E644D;ENSG00000166960:ENST00000583930:exon17:c.G1932C:p.E644D;ENSG00000166960:ENST00000383096:exon18:c.G1932C:p.E644D;ENSG00000166960:ENST00000403303:exon17:c.G1932C:p.E644D;ENSG00000166960:ENST00000581524:exon5:c.G573C:p.E191D;ENSG00000166960:ENST00000579947:exon18:c.G1932C:p.E644D;	0.89135725167586	0.54
18	30803070	C	T	18	33223106	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon17:c.G1932A:p.E644E;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.G1932A:p.E644E;ENSG00000166960:ENST00000402325:exon16:c.G1932A:p.E644E;ENSG00000166960:ENST00000583930:exon17:c.G1932A:p.E644E;ENSG00000166960:ENST00000383096:exon18:c.G1932A:p.E644E;ENSG00000166960:ENST00000403303:exon17:c.G1932A:p.E644E;ENSG00000166960:ENST00000581524:exon5:c.G573A:p.E191E;ENSG00000166960:ENST00000579947:exon18:c.G1932A:p.E644E;	0.674245390468515	0.772
18	30803071	T	A	18	33223107	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.A1931T:p.E644V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.A1931T:p.E644V;ENSG00000166960:ENST00000402325:exon16:c.A1931T:p.E644V;ENSG00000166960:ENST00000583930:exon17:c.A1931T:p.E644V;ENSG00000166960:ENST00000383096:exon18:c.A1931T:p.E644V;ENSG00000166960:ENST00000403303:exon17:c.A1931T:p.E644V;ENSG00000166960:ENST00000581524:exon5:c.A572T:p.E191V;ENSG00000166960:ENST00000579947:exon18:c.A1931T:p.E644V;	0.0382406201953934	0.366
18	30803071	T	C	18	33223107	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.A1931G:p.E644G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.A1931G:p.E644G;ENSG00000166960:ENST00000402325:exon16:c.A1931G:p.E644G;ENSG00000166960:ENST00000583930:exon17:c.A1931G:p.E644G;ENSG00000166960:ENST00000383096:exon18:c.A1931G:p.E644G;ENSG00000166960:ENST00000403303:exon17:c.A1931G:p.E644G;ENSG00000166960:ENST00000581524:exon5:c.A572G:p.E191G;ENSG00000166960:ENST00000579947:exon18:c.A1931G:p.E644G;	0.0983480524003372	0.344
18	30803071	T	G	18	33223107	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.A1931C:p.E644A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.A1931C:p.E644A;ENSG00000166960:ENST00000402325:exon16:c.A1931C:p.E644A;ENSG00000166960:ENST00000583930:exon17:c.A1931C:p.E644A;ENSG00000166960:ENST00000383096:exon18:c.A1931C:p.E644A;ENSG00000166960:ENST00000403303:exon17:c.A1931C:p.E644A;ENSG00000166960:ENST00000581524:exon5:c.A572C:p.E191A;ENSG00000166960:ENST00000579947:exon18:c.A1931C:p.E644A;	0.0208455636185602	0.36
18	30803072	C	A	18	33223108	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon17:c.G1930T:p.E644X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon16:c.G1930T:p.E644X;ENSG00000166960:ENST00000402325:exon16:c.G1930T:p.E644X;ENSG00000166960:ENST00000583930:exon17:c.G1930T:p.E644X;ENSG00000166960:ENST00000383096:exon18:c.G1930T:p.E644X;ENSG00000166960:ENST00000403303:exon17:c.G1930T:p.E644X;ENSG00000166960:ENST00000581524:exon5:c.G571T:p.E191X;ENSG00000166960:ENST00000579947:exon18:c.G1930T:p.E644X;	0.179267271879246	0.594
18	30803072	C	G	18	33223108	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.G1930C:p.E644Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.G1930C:p.E644Q;ENSG00000166960:ENST00000402325:exon16:c.G1930C:p.E644Q;ENSG00000166960:ENST00000583930:exon17:c.G1930C:p.E644Q;ENSG00000166960:ENST00000383096:exon18:c.G1930C:p.E644Q;ENSG00000166960:ENST00000403303:exon17:c.G1930C:p.E644Q;ENSG00000166960:ENST00000581524:exon5:c.G571C:p.E191Q;ENSG00000166960:ENST00000579947:exon18:c.G1930C:p.E644Q;	2.36838731682654E-4	0.074
18	30803072	C	T	18	33223108	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.G1930A:p.E644K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.G1930A:p.E644K;ENSG00000166960:ENST00000402325:exon16:c.G1930A:p.E644K;ENSG00000166960:ENST00000583930:exon17:c.G1930A:p.E644K;ENSG00000166960:ENST00000383096:exon18:c.G1930A:p.E644K;ENSG00000166960:ENST00000403303:exon17:c.G1930A:p.E644K;ENSG00000166960:ENST00000581524:exon5:c.G571A:p.E191K;ENSG00000166960:ENST00000579947:exon18:c.G1930A:p.E644K;	4.31612494892706E-4	0.086
18	30803182	A	C	18	33223218	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.T1820G:p.M607R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.T1820G:p.M607R;ENSG00000166960:ENST00000402325:exon16:c.T1820G:p.M607R;ENSG00000166960:ENST00000583930:exon17:c.T1820G:p.M607R;ENSG00000166960:ENST00000383096:exon18:c.T1820G:p.M607R;ENSG00000166960:ENST00000403303:exon17:c.T1820G:p.M607R;ENSG00000166960:ENST00000581524:exon5:c.T461G:p.M154R;ENSG00000166960:ENST00000579947:exon18:c.T1820G:p.M607R;	3.96919425830403E-4	0.102
18	30803182	A	G	18	33223218	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.T1820C:p.M607T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.T1820C:p.M607T;ENSG00000166960:ENST00000402325:exon16:c.T1820C:p.M607T;ENSG00000166960:ENST00000583930:exon17:c.T1820C:p.M607T;ENSG00000166960:ENST00000383096:exon18:c.T1820C:p.M607T;ENSG00000166960:ENST00000403303:exon17:c.T1820C:p.M607T;ENSG00000166960:ENST00000581524:exon5:c.T461C:p.M154T;ENSG00000166960:ENST00000579947:exon18:c.T1820C:p.M607T;	1.51557402390437E-4	0.046
18	30803182	A	T	18	33223218	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.T1820A:p.M607K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.T1820A:p.M607K;ENSG00000166960:ENST00000402325:exon16:c.T1820A:p.M607K;ENSG00000166960:ENST00000583930:exon17:c.T1820A:p.M607K;ENSG00000166960:ENST00000383096:exon18:c.T1820A:p.M607K;ENSG00000166960:ENST00000403303:exon17:c.T1820A:p.M607K;ENSG00000166960:ENST00000581524:exon5:c.T461A:p.M154K;ENSG00000166960:ENST00000579947:exon18:c.T1820A:p.M607K;	5.8937644117664E-4	0.168
18	30803183	T	A	18	33223219	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.A1819T:p.M607L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.A1819T:p.M607L;ENSG00000166960:ENST00000402325:exon16:c.A1819T:p.M607L;ENSG00000166960:ENST00000583930:exon17:c.A1819T:p.M607L;ENSG00000166960:ENST00000383096:exon18:c.A1819T:p.M607L;ENSG00000166960:ENST00000403303:exon17:c.A1819T:p.M607L;ENSG00000166960:ENST00000581524:exon5:c.A460T:p.M154L;ENSG00000166960:ENST00000579947:exon18:c.A1819T:p.M607L;	2.35254082034177E-4	0.108
18	30803183	T	C	18	33223219	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.A1819G:p.M607V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.A1819G:p.M607V;ENSG00000166960:ENST00000402325:exon16:c.A1819G:p.M607V;ENSG00000166960:ENST00000583930:exon17:c.A1819G:p.M607V;ENSG00000166960:ENST00000383096:exon18:c.A1819G:p.M607V;ENSG00000166960:ENST00000403303:exon17:c.A1819G:p.M607V;ENSG00000166960:ENST00000581524:exon5:c.A460G:p.M154V;ENSG00000166960:ENST00000579947:exon18:c.A1819G:p.M607V;	1.1030209040341E-5	0.0
18	30803183	T	G	18	33223219	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon17:c.A1819C:p.M607L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon16:c.A1819C:p.M607L;ENSG00000166960:ENST00000402325:exon16:c.A1819C:p.M607L;ENSG00000166960:ENST00000583930:exon17:c.A1819C:p.M607L;ENSG00000166960:ENST00000383096:exon18:c.A1819C:p.M607L;ENSG00000166960:ENST00000403303:exon17:c.A1819C:p.M607L;ENSG00000166960:ENST00000581524:exon5:c.A460C:p.M154L;ENSG00000166960:ENST00000579947:exon18:c.A1819C:p.M607L;	2.89429162200244E-4	0.134
18	30803184	C	A	18	33223220	y	y	splicing	CCDC178(NM_001105528:exon18:c.1819-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1819-1G>T;ENST00000581524:exon6:c.460-1G>T;ENST00000383096:exon19:c.1819-1G>T;ENST00000406524:exon17:c.1819-1G>T;ENST00000583930:exon18:c.1819-1G>T;ENST00000402325:exon17:c.1819-1G>T;ENST00000579947:exon19:c.1819-1G>T)	.	.	0.99995124505692	0.884
18	30803184	C	G	18	33223220	y	y	splicing	CCDC178(NM_001105528:exon18:c.1819-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1819-1G>C;ENST00000581524:exon6:c.460-1G>C;ENST00000383096:exon19:c.1819-1G>C;ENST00000406524:exon17:c.1819-1G>C;ENST00000583930:exon18:c.1819-1G>C;ENST00000402325:exon17:c.1819-1G>C;ENST00000579947:exon19:c.1819-1G>C)	.	.	0.99995124505692	0.896
18	30803184	C	T	18	33223220	y	y	splicing	CCDC178(NM_001105528:exon18:c.1819-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1819-1G>A;ENST00000581524:exon6:c.460-1G>A;ENST00000383096:exon19:c.1819-1G>A;ENST00000406524:exon17:c.1819-1G>A;ENST00000583930:exon18:c.1819-1G>A;ENST00000402325:exon17:c.1819-1G>A;ENST00000579947:exon19:c.1819-1G>A)	.	.	0.999949778486911	0.92
18	30803185	T	A	18	33223221	y	y	splicing	CCDC178(NM_001105528:exon18:c.1819-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1819-2A>T;ENST00000581524:exon6:c.460-2A>T;ENST00000383096:exon19:c.1819-2A>T;ENST00000406524:exon17:c.1819-2A>T;ENST00000583930:exon18:c.1819-2A>T;ENST00000402325:exon17:c.1819-2A>T;ENST00000579947:exon19:c.1819-2A>T)	.	.	0.999979863570546	0.914
18	30803185	T	C	18	33223221	y	y	splicing	CCDC178(NM_001105528:exon18:c.1819-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1819-2A>G;ENST00000581524:exon6:c.460-2A>G;ENST00000383096:exon19:c.1819-2A>G;ENST00000406524:exon17:c.1819-2A>G;ENST00000583930:exon18:c.1819-2A>G;ENST00000402325:exon17:c.1819-2A>G;ENST00000579947:exon19:c.1819-2A>G)	.	.	0.999968585001639	0.888
18	30803185	T	G	18	33223221	y	y	splicing	CCDC178(NM_001105528:exon18:c.1819-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon18:c.1819-2A>C;ENST00000581524:exon6:c.460-2A>C;ENST00000383096:exon19:c.1819-2A>C;ENST00000406524:exon17:c.1819-2A>C;ENST00000583930:exon18:c.1819-2A>C;ENST00000402325:exon17:c.1819-2A>C;ENST00000579947:exon19:c.1819-2A>C)	.	.	0.999968585001639	0.888
18	30803186	A	C	18	33223222	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.649267909209103	0.524
18	30803186	A	G	18	33223222	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.32563863757203E-4	0.092
18	30803186	A	T	18	33223222	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00957229574189736	0.23
18	30803187	G	A	18	33223223	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.51098531607675E-5	0.024
18	30803187	G	C	18	33223223	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00104911017871063	0.158
18	30803187	G	T	18	33223223	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.59542461806244E-4	0.016
18	30803188	A	C	18	33223224	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.312360021789586	0.556
18	30803188	A	G	18	33223224	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00572128272171189	0.152
18	30803188	A	T	18	33223224	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.82176659049295	0.544
18	30803189	A	C	18	33223225	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0765029979169966	0.446
18	30803189	A	G	18	33223225	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.69115676048984E-4	0.042
18	30803189	A	T	18	33223225	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0576740620517082	0.406
18	30803190	G	A	18	33223226	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.36031725702593E-5	0.0
18	30803190	G	C	18	33223226	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00160660710099775	0.114
18	30803190	G	T	18	33223226	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00510773014063861	0.136
18	30803191	A	C	18	33223227	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.548669766393191	0.626
18	30803191	A	G	18	33223227	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.23490676031599E-4	0.102
18	30803191	A	T	18	33223227	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.659062074397355	0.566
18	30803192	C	A	18	33223228	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.23519805756524E-5	0.034
18	30803192	C	G	18	33223228	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.5588480767979E-5	0.002
18	30803192	C	T	18	33223228	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.95575432388902E-4	0.016
18	30803193	A	C	18	33223229	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999954747596362	0.972
18	30803193	A	G	18	33223229	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00299123196824123	0.168
18	30803193	A	T	18	33223229	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999899001259013	0.964
18	30803194	T	A	18	33223230	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.61442424179806E-4	0.128
18	30803194	T	C	18	33223230	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.996986472277304	0.956
18	30803194	T	G	18	33223230	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.96492534241299E-5	0.004
18	30803195	T	A	18	33223231	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.98622633818858E-4	0.038
18	30803195	T	C	18	33223231	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00928523800519808	0.074
18	30803195	T	G	18	33223231	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.04030397115059E-4	0.052
18	30804731	A	C	18	33224767	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.67102928582508E-4	0.002
18	30804731	A	G	18	33224767	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.67102928582508E-4	0.006
18	30804731	A	T	18	33224767	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.76116863763899E-4	0.074
18	30804732	T	A	18	33224768	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.4513508701415E-4	0.02
18	30804732	T	C	18	33224768	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.87028764785716E-5	0.0
18	30804732	T	G	18	33224768	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.87028764785716E-5	0.0
18	30804733	G	A	18	33224769	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.33254402046203E-5	0.0
18	30804733	G	C	18	33224769	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.67430678082744E-5	0.044
18	30804733	G	T	18	33224769	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.4853898969727E-4	0.06
18	30804734	C	A	18	33224770	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999975806363681	0.966
18	30804734	C	G	18	33224770	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999984450353137	0.956
18	30804734	C	T	18	33224770	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999970827925278	0.98
18	30804735	T	A	18	33224771	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999249500659595	0.798
18	30804735	T	C	18	33224771	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999439745648845	0.796
18	30804735	T	G	18	33224771	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999792536158603	0.832
18	30804736	T	A	18	33224772	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999240660333405	0.822
18	30804736	T	C	18	33224772	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.441974688486301	0.428
18	30804736	T	G	18	33224772	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998184658162019	0.794
18	30804737	A	C	18	33224773	y	y	splicing	CCDC178(NM_001105528:exon17:c.1818+2T>G;NM_198995:exon18:c.1818+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1818+2T>G;ENST00000581524:exon5:c.459+2T>G;ENST00000383096:exon18:c.1818+2T>G;ENST00000300227:exon18:c.1818+2T>G;ENST00000406524:exon16:c.1818+2T>G;ENST00000583930:exon17:c.1818+2T>G;ENST00000402325:exon16:c.1818+2T>G;ENST00000579947:exon18:c.1818+2T>G)	.	.	0.99993928974862	0.96
18	30804737	A	G	18	33224773	y	y	splicing	CCDC178(NM_001105528:exon17:c.1818+2T>C;NM_198995:exon18:c.1818+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1818+2T>C;ENST00000581524:exon5:c.459+2T>C;ENST00000383096:exon18:c.1818+2T>C;ENST00000300227:exon18:c.1818+2T>C;ENST00000406524:exon16:c.1818+2T>C;ENST00000583930:exon17:c.1818+2T>C;ENST00000402325:exon16:c.1818+2T>C;ENST00000579947:exon18:c.1818+2T>C)	.	.	0.999564397110216	0.918
18	30804737	A	T	18	33224773	y	y	splicing	CCDC178(NM_001105528:exon17:c.1818+2T>A;NM_198995:exon18:c.1818+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1818+2T>A;ENST00000581524:exon5:c.459+2T>A;ENST00000383096:exon18:c.1818+2T>A;ENST00000300227:exon18:c.1818+2T>A;ENST00000406524:exon16:c.1818+2T>A;ENST00000583930:exon17:c.1818+2T>A;ENST00000402325:exon16:c.1818+2T>A;ENST00000579947:exon18:c.1818+2T>A)	.	.	0.99993928974862	0.962
18	30804738	C	A	18	33224774	y	y	splicing	CCDC178(NM_001105528:exon17:c.1818+1G>T;NM_198995:exon18:c.1818+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1818+1G>T;ENST00000581524:exon5:c.459+1G>T;ENST00000383096:exon18:c.1818+1G>T;ENST00000300227:exon18:c.1818+1G>T;ENST00000406524:exon16:c.1818+1G>T;ENST00000583930:exon17:c.1818+1G>T;ENST00000402325:exon16:c.1818+1G>T;ENST00000579947:exon18:c.1818+1G>T)	.	.	0.999950207824055	0.948
18	30804738	C	G	18	33224774	y	y	splicing	CCDC178(NM_001105528:exon17:c.1818+1G>C;NM_198995:exon18:c.1818+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1818+1G>C;ENST00000581524:exon5:c.459+1G>C;ENST00000383096:exon18:c.1818+1G>C;ENST00000300227:exon18:c.1818+1G>C;ENST00000406524:exon16:c.1818+1G>C;ENST00000583930:exon17:c.1818+1G>C;ENST00000402325:exon16:c.1818+1G>C;ENST00000579947:exon18:c.1818+1G>C)	.	.	0.999950207824055	0.952
18	30804738	C	T	18	33224774	y	y	splicing	CCDC178(NM_001105528:exon17:c.1818+1G>A;NM_198995:exon18:c.1818+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1818+1G>A;ENST00000581524:exon5:c.459+1G>A;ENST00000383096:exon18:c.1818+1G>A;ENST00000300227:exon18:c.1818+1G>A;ENST00000406524:exon16:c.1818+1G>A;ENST00000583930:exon17:c.1818+1G>A;ENST00000402325:exon16:c.1818+1G>A;ENST00000579947:exon18:c.1818+1G>A)	.	.	0.999950207824055	0.954
18	30804739	A	C	18	33224775	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon16:c.T1818G:p.V606V;CCDC178:NM_198995:exon17:c.T1818G:p.V606V;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.T1818G:p.V606V;ENSG00000166960:ENST00000402325:exon15:c.T1818G:p.V606V;ENSG00000166960:ENST00000583930:exon16:c.T1818G:p.V606V;ENSG00000166960:ENST00000383096:exon17:c.T1818G:p.V606V;ENSG00000166960:ENST00000300227:exon17:c.T1818G:p.V606V;ENSG00000166960:ENST00000403303:exon16:c.T1818G:p.V606V;ENSG00000166960:ENST00000581524:exon4:c.T459G:p.V153V;ENSG00000166960:ENST00000579947:exon17:c.T1818G:p.V606V;	2.50890882143008E-5	0.004
18	30804739	A	G	18	33224775	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon16:c.T1818C:p.V606V;CCDC178:NM_198995:exon17:c.T1818C:p.V606V;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.T1818C:p.V606V;ENSG00000166960:ENST00000402325:exon15:c.T1818C:p.V606V;ENSG00000166960:ENST00000583930:exon16:c.T1818C:p.V606V;ENSG00000166960:ENST00000383096:exon17:c.T1818C:p.V606V;ENSG00000166960:ENST00000300227:exon17:c.T1818C:p.V606V;ENSG00000166960:ENST00000403303:exon16:c.T1818C:p.V606V;ENSG00000166960:ENST00000581524:exon4:c.T459C:p.V153V;ENSG00000166960:ENST00000579947:exon17:c.T1818C:p.V606V;	9.53446063695616E-6	0.038
18	30804739	A	T	18	33224775	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon16:c.T1818A:p.V606V;CCDC178:NM_198995:exon17:c.T1818A:p.V606V;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.T1818A:p.V606V;ENSG00000166960:ENST00000402325:exon15:c.T1818A:p.V606V;ENSG00000166960:ENST00000583930:exon16:c.T1818A:p.V606V;ENSG00000166960:ENST00000383096:exon17:c.T1818A:p.V606V;ENSG00000166960:ENST00000300227:exon17:c.T1818A:p.V606V;ENSG00000166960:ENST00000403303:exon16:c.T1818A:p.V606V;ENSG00000166960:ENST00000581524:exon4:c.T459A:p.V153V;ENSG00000166960:ENST00000579947:exon17:c.T1818A:p.V606V;	2.16565466738182E-5	0.018
18	30804740	A	C	18	33224776	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.T1817G:p.V606G;CCDC178:NM_198995:exon17:c.T1817G:p.V606G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.T1817G:p.V606G;ENSG00000166960:ENST00000402325:exon15:c.T1817G:p.V606G;ENSG00000166960:ENST00000583930:exon16:c.T1817G:p.V606G;ENSG00000166960:ENST00000383096:exon17:c.T1817G:p.V606G;ENSG00000166960:ENST00000300227:exon17:c.T1817G:p.V606G;ENSG00000166960:ENST00000403303:exon16:c.T1817G:p.V606G;ENSG00000166960:ENST00000581524:exon4:c.T458G:p.V153G;ENSG00000166960:ENST00000579947:exon17:c.T1817G:p.V606G;	2.44170288653581E-5	0.036
18	30804740	A	G	18	33224776	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.T1817C:p.V606A;CCDC178:NM_198995:exon17:c.T1817C:p.V606A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.T1817C:p.V606A;ENSG00000166960:ENST00000402325:exon15:c.T1817C:p.V606A;ENSG00000166960:ENST00000583930:exon16:c.T1817C:p.V606A;ENSG00000166960:ENST00000383096:exon17:c.T1817C:p.V606A;ENSG00000166960:ENST00000300227:exon17:c.T1817C:p.V606A;ENSG00000166960:ENST00000403303:exon16:c.T1817C:p.V606A;ENSG00000166960:ENST00000581524:exon4:c.T458C:p.V153A;ENSG00000166960:ENST00000579947:exon17:c.T1817C:p.V606A;	1.7206022504874E-5	0.004
18	30804740	A	T	18	33224776	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.T1817A:p.V606D;CCDC178:NM_198995:exon17:c.T1817A:p.V606D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.T1817A:p.V606D;ENSG00000166960:ENST00000402325:exon15:c.T1817A:p.V606D;ENSG00000166960:ENST00000583930:exon16:c.T1817A:p.V606D;ENSG00000166960:ENST00000383096:exon17:c.T1817A:p.V606D;ENSG00000166960:ENST00000300227:exon17:c.T1817A:p.V606D;ENSG00000166960:ENST00000403303:exon16:c.T1817A:p.V606D;ENSG00000166960:ENST00000581524:exon4:c.T458A:p.V153D;ENSG00000166960:ENST00000579947:exon17:c.T1817A:p.V606D;	8.96549004047312E-5	0.066
18	30804741	C	A	18	33224777	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.G1816T:p.V606F;CCDC178:NM_198995:exon17:c.G1816T:p.V606F;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.G1816T:p.V606F;ENSG00000166960:ENST00000402325:exon15:c.G1816T:p.V606F;ENSG00000166960:ENST00000583930:exon16:c.G1816T:p.V606F;ENSG00000166960:ENST00000383096:exon17:c.G1816T:p.V606F;ENSG00000166960:ENST00000300227:exon17:c.G1816T:p.V606F;ENSG00000166960:ENST00000403303:exon16:c.G1816T:p.V606F;ENSG00000166960:ENST00000581524:exon4:c.G457T:p.V153F;ENSG00000166960:ENST00000579947:exon17:c.G1816T:p.V606F;	4.14159626385581E-4	0.022
18	30804741	C	G	18	33224777	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.G1816C:p.V606L;CCDC178:NM_198995:exon17:c.G1816C:p.V606L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.G1816C:p.V606L;ENSG00000166960:ENST00000402325:exon15:c.G1816C:p.V606L;ENSG00000166960:ENST00000583930:exon16:c.G1816C:p.V606L;ENSG00000166960:ENST00000383096:exon17:c.G1816C:p.V606L;ENSG00000166960:ENST00000300227:exon17:c.G1816C:p.V606L;ENSG00000166960:ENST00000403303:exon16:c.G1816C:p.V606L;ENSG00000166960:ENST00000581524:exon4:c.G457C:p.V153L;ENSG00000166960:ENST00000579947:exon17:c.G1816C:p.V606L;	1.88556075404233E-5	0.004
18	30804741	C	T	18	33224777	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.G1816A:p.V606I;CCDC178:NM_198995:exon17:c.G1816A:p.V606I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.G1816A:p.V606I;ENSG00000166960:ENST00000402325:exon15:c.G1816A:p.V606I;ENSG00000166960:ENST00000583930:exon16:c.G1816A:p.V606I;ENSG00000166960:ENST00000383096:exon17:c.G1816A:p.V606I;ENSG00000166960:ENST00000300227:exon17:c.G1816A:p.V606I;ENSG00000166960:ENST00000403303:exon16:c.G1816A:p.V606I;ENSG00000166960:ENST00000581524:exon4:c.G457A:p.V153I;ENSG00000166960:ENST00000579947:exon17:c.G1816A:p.V606I;	1.98909921911827E-5	0.0
18	30804899	T	A	18	33224935	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.A1658T:p.K553I;CCDC178:NM_198995:exon17:c.A1658T:p.K553I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.A1658T:p.K553I;ENSG00000166960:ENST00000402325:exon15:c.A1658T:p.K553I;ENSG00000166960:ENST00000583930:exon16:c.A1658T:p.K553I;ENSG00000166960:ENST00000383096:exon17:c.A1658T:p.K553I;ENSG00000166960:ENST00000300227:exon17:c.A1658T:p.K553I;ENSG00000166960:ENST00000403303:exon16:c.A1658T:p.K553I;ENSG00000166960:ENST00000581524:exon4:c.A299T:p.K100I;ENSG00000166960:ENST00000579947:exon17:c.A1658T:p.K553I;	0.00156332527017444	0.064
18	30804899	T	C	18	33224935	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.A1658G:p.K553R;CCDC178:NM_198995:exon17:c.A1658G:p.K553R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.A1658G:p.K553R;ENSG00000166960:ENST00000402325:exon15:c.A1658G:p.K553R;ENSG00000166960:ENST00000583930:exon16:c.A1658G:p.K553R;ENSG00000166960:ENST00000383096:exon17:c.A1658G:p.K553R;ENSG00000166960:ENST00000300227:exon17:c.A1658G:p.K553R;ENSG00000166960:ENST00000403303:exon16:c.A1658G:p.K553R;ENSG00000166960:ENST00000581524:exon4:c.A299G:p.K100R;ENSG00000166960:ENST00000579947:exon17:c.A1658G:p.K553R;	0.0013154438930721	0.078
18	30804899	T	G	18	33224935	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.A1658C:p.K553T;CCDC178:NM_198995:exon17:c.A1658C:p.K553T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.A1658C:p.K553T;ENSG00000166960:ENST00000402325:exon15:c.A1658C:p.K553T;ENSG00000166960:ENST00000583930:exon16:c.A1658C:p.K553T;ENSG00000166960:ENST00000383096:exon17:c.A1658C:p.K553T;ENSG00000166960:ENST00000300227:exon17:c.A1658C:p.K553T;ENSG00000166960:ENST00000403303:exon16:c.A1658C:p.K553T;ENSG00000166960:ENST00000581524:exon4:c.A299C:p.K100T;ENSG00000166960:ENST00000579947:exon17:c.A1658C:p.K553T;	5.44214359125666E-4	0.044
18	30804900	T	A	18	33224936	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon16:c.A1657T:p.K553X;CCDC178:NM_198995:exon17:c.A1657T:p.K553X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon15:c.A1657T:p.K553X;ENSG00000166960:ENST00000402325:exon15:c.A1657T:p.K553X;ENSG00000166960:ENST00000583930:exon16:c.A1657T:p.K553X;ENSG00000166960:ENST00000383096:exon17:c.A1657T:p.K553X;ENSG00000166960:ENST00000300227:exon17:c.A1657T:p.K553X;ENSG00000166960:ENST00000403303:exon16:c.A1657T:p.K553X;ENSG00000166960:ENST00000581524:exon4:c.A298T:p.K100X;ENSG00000166960:ENST00000579947:exon17:c.A1657T:p.K553X;	0.639162236772051	0.584
18	30804900	T	C	18	33224936	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.A1657G:p.K553E;CCDC178:NM_198995:exon17:c.A1657G:p.K553E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.A1657G:p.K553E;ENSG00000166960:ENST00000402325:exon15:c.A1657G:p.K553E;ENSG00000166960:ENST00000583930:exon16:c.A1657G:p.K553E;ENSG00000166960:ENST00000383096:exon17:c.A1657G:p.K553E;ENSG00000166960:ENST00000300227:exon17:c.A1657G:p.K553E;ENSG00000166960:ENST00000403303:exon16:c.A1657G:p.K553E;ENSG00000166960:ENST00000581524:exon4:c.A298G:p.K100E;ENSG00000166960:ENST00000579947:exon17:c.A1657G:p.K553E;	0.00114229427109735	0.024
18	30804900	T	G	18	33224936	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon16:c.A1657C:p.K553Q;CCDC178:NM_198995:exon17:c.A1657C:p.K553Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon15:c.A1657C:p.K553Q;ENSG00000166960:ENST00000402325:exon15:c.A1657C:p.K553Q;ENSG00000166960:ENST00000583930:exon16:c.A1657C:p.K553Q;ENSG00000166960:ENST00000383096:exon17:c.A1657C:p.K553Q;ENSG00000166960:ENST00000300227:exon17:c.A1657C:p.K553Q;ENSG00000166960:ENST00000403303:exon16:c.A1657C:p.K553Q;ENSG00000166960:ENST00000581524:exon4:c.A298C:p.K100Q;ENSG00000166960:ENST00000579947:exon17:c.A1657C:p.K553Q;	0.0174795589901096	0.214
18	30804901	C	A	18	33224937	y	y	splicing	CCDC178(NM_001105528:exon17:c.1657-1G>T;NM_198995:exon18:c.1657-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1657-1G>T;ENST00000581524:exon5:c.298-1G>T;ENST00000383096:exon18:c.1657-1G>T;ENST00000300227:exon18:c.1657-1G>T;ENST00000406524:exon16:c.1657-1G>T;ENST00000583930:exon17:c.1657-1G>T;ENST00000402325:exon16:c.1657-1G>T;ENST00000579947:exon18:c.1657-1G>T)	.	.	0.999983436562227	0.902
18	30804901	C	G	18	33224937	y	y	splicing	CCDC178(NM_001105528:exon17:c.1657-1G>C;NM_198995:exon18:c.1657-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1657-1G>C;ENST00000581524:exon5:c.298-1G>C;ENST00000383096:exon18:c.1657-1G>C;ENST00000300227:exon18:c.1657-1G>C;ENST00000406524:exon16:c.1657-1G>C;ENST00000583930:exon17:c.1657-1G>C;ENST00000402325:exon16:c.1657-1G>C;ENST00000579947:exon18:c.1657-1G>C)	.	.	0.999983436562227	0.906
18	30804901	C	T	18	33224937	y	y	splicing	CCDC178(NM_001105528:exon17:c.1657-1G>A;NM_198995:exon18:c.1657-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1657-1G>A;ENST00000581524:exon5:c.298-1G>A;ENST00000383096:exon18:c.1657-1G>A;ENST00000300227:exon18:c.1657-1G>A;ENST00000406524:exon16:c.1657-1G>A;ENST00000583930:exon17:c.1657-1G>A;ENST00000402325:exon16:c.1657-1G>A;ENST00000579947:exon18:c.1657-1G>A)	.	.	0.999983436562227	0.902
18	30804902	T	A	18	33224938	y	y	splicing	CCDC178(NM_001105528:exon17:c.1657-2A>T;NM_198995:exon18:c.1657-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1657-2A>T;ENST00000581524:exon5:c.298-2A>T;ENST00000383096:exon18:c.1657-2A>T;ENST00000300227:exon18:c.1657-2A>T;ENST00000406524:exon16:c.1657-2A>T;ENST00000583930:exon17:c.1657-2A>T;ENST00000402325:exon16:c.1657-2A>T;ENST00000579947:exon18:c.1657-2A>T)	.	.	0.999926640949825	0.912
18	30804902	T	C	18	33224938	y	y	splicing	CCDC178(NM_001105528:exon17:c.1657-2A>G;NM_198995:exon18:c.1657-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1657-2A>G;ENST00000581524:exon5:c.298-2A>G;ENST00000383096:exon18:c.1657-2A>G;ENST00000300227:exon18:c.1657-2A>G;ENST00000406524:exon16:c.1657-2A>G;ENST00000583930:exon17:c.1657-2A>G;ENST00000402325:exon16:c.1657-2A>G;ENST00000579947:exon18:c.1657-2A>G)	.	.	0.999926640949825	0.916
18	30804902	T	G	18	33224938	y	y	splicing	CCDC178(NM_001105528:exon17:c.1657-2A>C;NM_198995:exon18:c.1657-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon17:c.1657-2A>C;ENST00000581524:exon5:c.298-2A>C;ENST00000383096:exon18:c.1657-2A>C;ENST00000300227:exon18:c.1657-2A>C;ENST00000406524:exon16:c.1657-2A>C;ENST00000583930:exon17:c.1657-2A>C;ENST00000402325:exon16:c.1657-2A>C;ENST00000579947:exon18:c.1657-2A>C)	.	.	0.999926640949825	0.916
18	30804903	G	A	18	33224939	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00193671167218339	0.178
18	30804903	G	C	18	33224939	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.985372992253824	0.766
18	30804903	G	T	18	33224939	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.933874792774718	0.7
18	30804904	C	A	18	33224940	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.92707371795795E-4	0.092
18	30804904	C	G	18	33224940	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.83029121406361E-5	0.038
18	30804904	C	T	18	33224940	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.06985632463556E-4	0.04
18	30804905	C	A	18	33224941	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.51203795030851E-5	0.008
18	30804905	C	G	18	33224941	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.51203795030851E-5	0.0
18	30804905	C	T	18	33224941	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.762199465009541	0.702
18	30804906	A	C	18	33224942	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.14928291576421	0.468
18	30804906	A	G	18	33224942	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00112830438513302	0.052
18	30804906	A	T	18	33224942	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999690968923361	0.946
18	30804907	G	A	18	33224943	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.58591904162033E-5	0.024
18	30804907	G	C	18	33224943	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.06559450097377E-4	0.114
18	30804907	G	T	18	33224943	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00176896533842249	0.104
18	30804908	C	A	18	33224944	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.10042643817238E-5	0.03
18	30804908	C	G	18	33224944	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.06488069256303E-5	0.042
18	30804908	C	T	18	33224944	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.76806643654711E-5	0.056
18	30804909	A	C	18	33224945	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00901048753644023	0.406
18	30804909	A	G	18	33224945	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.3084241777805E-4	0.048
18	30804909	A	T	18	33224945	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999907239801953	0.966
18	30804910	A	C	18	33224946	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0299924454105801	0.488
18	30804910	A	G	18	33224946	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0016550391799774	0.048
18	30804910	A	T	18	33224946	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.179865306851955	0.574
18	30804911	A	C	18	33224947	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.496385380094796	0.642
18	30804911	A	G	18	33224947	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0187528222970606	0.276
18	30804911	A	T	18	33224947	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.910385321770568	0.718
18	30804912	G	A	18	33224948	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.79873891739688E-5	0.004
18	30804912	G	C	18	33224948	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.27789524024964E-4	0.058
18	30804912	G	T	18	33224948	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.98941145672634E-4	0.032
18	30806749	A	C	18	33226785	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.02642503822698E-5	0.0
18	30806749	A	G	18	33226785	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.46535800631387E-5	0.0
18	30806749	A	T	18	33226785	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.33307100511712E-5	0.0
18	30806750	G	A	18	33226786	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00295366570293452	0.058
18	30806750	G	C	18	33226786	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00269879498487928	0.062
18	30806750	G	T	18	33226786	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00236684235278457	0.04
18	30806751	T	A	18	33226787	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.77639700320972E-4	0.008
18	30806751	T	C	18	33226787	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.93319309177405E-5	0.0
18	30806751	T	G	18	33226787	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.82107910960627E-4	0.05
18	30806752	A	C	18	33226788	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.18591336167876E-4	0.054
18	30806752	A	G	18	33226788	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.36447209734015E-5	0.0
18	30806752	A	T	18	33226788	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.61302388177336E-5	0.006
18	30806753	T	A	18	33226789	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.708415198242391	0.63
18	30806753	T	C	18	33226789	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.905640997798145	0.778
18	30806753	T	G	18	33226789	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.928109530210928	0.66
18	30806754	T	A	18	33226790	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999928737089092	0.982
18	30806754	T	C	18	33226790	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.997443423672729	0.78
18	30806754	T	G	18	33226790	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999881912448232	0.95
18	30806755	A	C	18	33226791	y	y	splicing	CCDC178(NM_001105528:exon16:c.1656+2T>G;NM_198995:exon17:c.1656+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1656+2T>G;ENST00000581524:exon4:c.297+2T>G;ENST00000383096:exon17:c.1656+2T>G;ENST00000300227:exon17:c.1656+2T>G;ENST00000406524:exon15:c.1656+2T>G;ENST00000583930:exon16:c.1656+2T>G;ENST00000402325:exon15:c.1656+2T>G;ENST00000579947:exon17:c.1656+2T>G)	.	.	0.999978952611685	0.926
18	30806755	A	G	18	33226791	y	y	splicing	CCDC178(NM_001105528:exon16:c.1656+2T>C;NM_198995:exon17:c.1656+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1656+2T>C;ENST00000581524:exon4:c.297+2T>C;ENST00000383096:exon17:c.1656+2T>C;ENST00000300227:exon17:c.1656+2T>C;ENST00000406524:exon15:c.1656+2T>C;ENST00000583930:exon16:c.1656+2T>C;ENST00000402325:exon15:c.1656+2T>C;ENST00000579947:exon17:c.1656+2T>C)	.	.	0.995550480548773	0.658
18	30806755	A	T	18	33226791	y	y	splicing	CCDC178(NM_001105528:exon16:c.1656+2T>A;NM_198995:exon17:c.1656+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1656+2T>A;ENST00000581524:exon4:c.297+2T>A;ENST00000383096:exon17:c.1656+2T>A;ENST00000300227:exon17:c.1656+2T>A;ENST00000406524:exon15:c.1656+2T>A;ENST00000583930:exon16:c.1656+2T>A;ENST00000402325:exon15:c.1656+2T>A;ENST00000579947:exon17:c.1656+2T>A)	.	.	0.999978952611685	0.928
18	30806756	C	A	18	33226792	y	y	splicing	CCDC178(NM_001105528:exon16:c.1656+1G>T;NM_198995:exon17:c.1656+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1656+1G>T;ENST00000581524:exon4:c.297+1G>T;ENST00000383096:exon17:c.1656+1G>T;ENST00000300227:exon17:c.1656+1G>T;ENST00000406524:exon15:c.1656+1G>T;ENST00000583930:exon16:c.1656+1G>T;ENST00000402325:exon15:c.1656+1G>T;ENST00000579947:exon17:c.1656+1G>T)	.	.	0.999967335026411	0.93
18	30806756	C	G	18	33226792	y	y	splicing	CCDC178(NM_001105528:exon16:c.1656+1G>C;NM_198995:exon17:c.1656+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1656+1G>C;ENST00000581524:exon4:c.297+1G>C;ENST00000383096:exon17:c.1656+1G>C;ENST00000300227:exon17:c.1656+1G>C;ENST00000406524:exon15:c.1656+1G>C;ENST00000583930:exon16:c.1656+1G>C;ENST00000402325:exon15:c.1656+1G>C;ENST00000579947:exon17:c.1656+1G>C)	.	.	0.999915710762489	0.93
18	30806756	C	T	18	33226792	y	y	splicing	CCDC178(NM_001105528:exon16:c.1656+1G>A;NM_198995:exon17:c.1656+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1656+1G>A;ENST00000581524:exon4:c.297+1G>A;ENST00000383096:exon17:c.1656+1G>A;ENST00000300227:exon17:c.1656+1G>A;ENST00000406524:exon15:c.1656+1G>A;ENST00000583930:exon16:c.1656+1G>A;ENST00000402325:exon15:c.1656+1G>A;ENST00000579947:exon17:c.1656+1G>A)	.	.	0.999967335026411	0.936
18	30806757	C	A	18	33226793	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.G1656T:p.Q552H;CCDC178:NM_198995:exon16:c.G1656T:p.Q552H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1656T:p.Q552H;ENSG00000166960:ENST00000402325:exon14:c.G1656T:p.Q552H;ENSG00000166960:ENST00000583930:exon15:c.G1656T:p.Q552H;ENSG00000166960:ENST00000383096:exon16:c.G1656T:p.Q552H;ENSG00000166960:ENST00000300227:exon16:c.G1656T:p.Q552H;ENSG00000166960:ENST00000403303:exon15:c.G1656T:p.Q552H;ENSG00000166960:ENST00000581524:exon3:c.G297T:p.Q99H;ENSG00000166960:ENST00000579947:exon16:c.G1656T:p.Q552H;	0.999978669781435	0.95
18	30806757	C	G	18	33226793	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.G1656C:p.Q552H;CCDC178:NM_198995:exon16:c.G1656C:p.Q552H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1656C:p.Q552H;ENSG00000166960:ENST00000402325:exon14:c.G1656C:p.Q552H;ENSG00000166960:ENST00000583930:exon15:c.G1656C:p.Q552H;ENSG00000166960:ENST00000383096:exon16:c.G1656C:p.Q552H;ENSG00000166960:ENST00000300227:exon16:c.G1656C:p.Q552H;ENSG00000166960:ENST00000403303:exon15:c.G1656C:p.Q552H;ENSG00000166960:ENST00000581524:exon3:c.G297C:p.Q99H;ENSG00000166960:ENST00000579947:exon16:c.G1656C:p.Q552H;	0.999995065658998	0.98
18	30806757	C	T	18	33226793	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon15:c.G1656A:p.Q552Q;CCDC178:NM_198995:exon16:c.G1656A:p.Q552Q;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1656A:p.Q552Q;ENSG00000166960:ENST00000402325:exon14:c.G1656A:p.Q552Q;ENSG00000166960:ENST00000583930:exon15:c.G1656A:p.Q552Q;ENSG00000166960:ENST00000383096:exon16:c.G1656A:p.Q552Q;ENSG00000166960:ENST00000300227:exon16:c.G1656A:p.Q552Q;ENSG00000166960:ENST00000403303:exon15:c.G1656A:p.Q552Q;ENSG00000166960:ENST00000581524:exon3:c.G297A:p.Q99Q;ENSG00000166960:ENST00000579947:exon16:c.G1656A:p.Q552Q;	0.999934867098436	0.99
18	30806758	T	A	18	33226794	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.A1655T:p.Q552L;CCDC178:NM_198995:exon16:c.A1655T:p.Q552L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.A1655T:p.Q552L;ENSG00000166960:ENST00000402325:exon14:c.A1655T:p.Q552L;ENSG00000166960:ENST00000583930:exon15:c.A1655T:p.Q552L;ENSG00000166960:ENST00000383096:exon16:c.A1655T:p.Q552L;ENSG00000166960:ENST00000300227:exon16:c.A1655T:p.Q552L;ENSG00000166960:ENST00000403303:exon15:c.A1655T:p.Q552L;ENSG00000166960:ENST00000581524:exon3:c.A296T:p.Q99L;ENSG00000166960:ENST00000579947:exon16:c.A1655T:p.Q552L;	0.99488244552544	0.738
18	30806758	T	C	18	33226794	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.A1655G:p.Q552R;CCDC178:NM_198995:exon16:c.A1655G:p.Q552R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.A1655G:p.Q552R;ENSG00000166960:ENST00000402325:exon14:c.A1655G:p.Q552R;ENSG00000166960:ENST00000583930:exon15:c.A1655G:p.Q552R;ENSG00000166960:ENST00000383096:exon16:c.A1655G:p.Q552R;ENSG00000166960:ENST00000300227:exon16:c.A1655G:p.Q552R;ENSG00000166960:ENST00000403303:exon15:c.A1655G:p.Q552R;ENSG00000166960:ENST00000581524:exon3:c.A296G:p.Q99R;ENSG00000166960:ENST00000579947:exon16:c.A1655G:p.Q552R;	0.83010079620779	0.64
18	30806758	T	G	18	33226794	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.A1655C:p.Q552P;CCDC178:NM_198995:exon16:c.A1655C:p.Q552P;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.A1655C:p.Q552P;ENSG00000166960:ENST00000402325:exon14:c.A1655C:p.Q552P;ENSG00000166960:ENST00000583930:exon15:c.A1655C:p.Q552P;ENSG00000166960:ENST00000383096:exon16:c.A1655C:p.Q552P;ENSG00000166960:ENST00000300227:exon16:c.A1655C:p.Q552P;ENSG00000166960:ENST00000403303:exon15:c.A1655C:p.Q552P;ENSG00000166960:ENST00000581524:exon3:c.A296C:p.Q99P;ENSG00000166960:ENST00000579947:exon16:c.A1655C:p.Q552P;	0.95793200785794	0.694
18	30806759	G	A	18	33226795	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon15:c.C1654T:p.Q552X;CCDC178:NM_198995:exon16:c.C1654T:p.Q552X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon14:c.C1654T:p.Q552X;ENSG00000166960:ENST00000402325:exon14:c.C1654T:p.Q552X;ENSG00000166960:ENST00000583930:exon15:c.C1654T:p.Q552X;ENSG00000166960:ENST00000383096:exon16:c.C1654T:p.Q552X;ENSG00000166960:ENST00000300227:exon16:c.C1654T:p.Q552X;ENSG00000166960:ENST00000403303:exon15:c.C1654T:p.Q552X;ENSG00000166960:ENST00000581524:exon3:c.C295T:p.Q99X;ENSG00000166960:ENST00000579947:exon16:c.C1654T:p.Q552X;	0.999596095691247	0.956
18	30806759	G	C	18	33226795	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.C1654G:p.Q552E;CCDC178:NM_198995:exon16:c.C1654G:p.Q552E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.C1654G:p.Q552E;ENSG00000166960:ENST00000402325:exon14:c.C1654G:p.Q552E;ENSG00000166960:ENST00000583930:exon15:c.C1654G:p.Q552E;ENSG00000166960:ENST00000383096:exon16:c.C1654G:p.Q552E;ENSG00000166960:ENST00000300227:exon16:c.C1654G:p.Q552E;ENSG00000166960:ENST00000403303:exon15:c.C1654G:p.Q552E;ENSG00000166960:ENST00000581524:exon3:c.C295G:p.Q99E;ENSG00000166960:ENST00000579947:exon16:c.C1654G:p.Q552E;	0.0201061192283487	0.222
18	30806759	G	T	18	33226795	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.C1654A:p.Q552K;CCDC178:NM_198995:exon16:c.C1654A:p.Q552K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.C1654A:p.Q552K;ENSG00000166960:ENST00000402325:exon14:c.C1654A:p.Q552K;ENSG00000166960:ENST00000583930:exon15:c.C1654A:p.Q552K;ENSG00000166960:ENST00000383096:exon16:c.C1654A:p.Q552K;ENSG00000166960:ENST00000300227:exon16:c.C1654A:p.Q552K;ENSG00000166960:ENST00000403303:exon15:c.C1654A:p.Q552K;ENSG00000166960:ENST00000581524:exon3:c.C295A:p.Q99K;ENSG00000166960:ENST00000579947:exon16:c.C1654A:p.Q552K;	0.00334489845521469	0.094
18	30806818	C	A	18	33226854	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.G1595T:p.G532V;CCDC178:NM_198995:exon16:c.G1595T:p.G532V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1595T:p.G532V;ENSG00000166960:ENST00000402325:exon14:c.G1595T:p.G532V;ENSG00000166960:ENST00000583930:exon15:c.G1595T:p.G532V;ENSG00000166960:ENST00000383096:exon16:c.G1595T:p.G532V;ENSG00000166960:ENST00000300227:exon16:c.G1595T:p.G532V;ENSG00000166960:ENST00000403303:exon15:c.G1595T:p.G532V;ENSG00000166960:ENST00000581524:exon3:c.G236T:p.G79V;ENSG00000166960:ENST00000579947:exon16:c.G1595T:p.G532V;	3.46062755796541E-5	0.002
18	30806818	C	G	18	33226854	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.G1595C:p.G532A;CCDC178:NM_198995:exon16:c.G1595C:p.G532A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1595C:p.G532A;ENSG00000166960:ENST00000402325:exon14:c.G1595C:p.G532A;ENSG00000166960:ENST00000583930:exon15:c.G1595C:p.G532A;ENSG00000166960:ENST00000383096:exon16:c.G1595C:p.G532A;ENSG00000166960:ENST00000300227:exon16:c.G1595C:p.G532A;ENSG00000166960:ENST00000403303:exon15:c.G1595C:p.G532A;ENSG00000166960:ENST00000581524:exon3:c.G236C:p.G79A;ENSG00000166960:ENST00000579947:exon16:c.G1595C:p.G532A;	1.83512085987347E-5	0.004
18	30806818	C	T	18	33226854	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.G1595A:p.G532D;CCDC178:NM_198995:exon16:c.G1595A:p.G532D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1595A:p.G532D;ENSG00000166960:ENST00000402325:exon14:c.G1595A:p.G532D;ENSG00000166960:ENST00000583930:exon15:c.G1595A:p.G532D;ENSG00000166960:ENST00000383096:exon16:c.G1595A:p.G532D;ENSG00000166960:ENST00000300227:exon16:c.G1595A:p.G532D;ENSG00000166960:ENST00000403303:exon15:c.G1595A:p.G532D;ENSG00000166960:ENST00000581524:exon3:c.G236A:p.G79D;ENSG00000166960:ENST00000579947:exon16:c.G1595A:p.G532D;	7.73010336292301E-5	0.014
18	30806819	C	A	18	33226855	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.G1594T:p.G532C;CCDC178:NM_198995:exon16:c.G1594T:p.G532C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1594T:p.G532C;ENSG00000166960:ENST00000402325:exon14:c.G1594T:p.G532C;ENSG00000166960:ENST00000583930:exon15:c.G1594T:p.G532C;ENSG00000166960:ENST00000383096:exon16:c.G1594T:p.G532C;ENSG00000166960:ENST00000300227:exon16:c.G1594T:p.G532C;ENSG00000166960:ENST00000403303:exon15:c.G1594T:p.G532C;ENSG00000166960:ENST00000581524:exon3:c.G235T:p.G79C;ENSG00000166960:ENST00000579947:exon16:c.G1594T:p.G532C;	0.926650249834441	0.64
18	30806819	C	G	18	33226855	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.G1594C:p.G532R;CCDC178:NM_198995:exon16:c.G1594C:p.G532R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1594C:p.G532R;ENSG00000166960:ENST00000402325:exon14:c.G1594C:p.G532R;ENSG00000166960:ENST00000583930:exon15:c.G1594C:p.G532R;ENSG00000166960:ENST00000383096:exon16:c.G1594C:p.G532R;ENSG00000166960:ENST00000300227:exon16:c.G1594C:p.G532R;ENSG00000166960:ENST00000403303:exon15:c.G1594C:p.G532R;ENSG00000166960:ENST00000581524:exon3:c.G235C:p.G79R;ENSG00000166960:ENST00000579947:exon16:c.G1594C:p.G532R;	0.0815304324097478	0.436
18	30806819	C	T	18	33226855	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon15:c.G1594A:p.G532S;CCDC178:NM_198995:exon16:c.G1594A:p.G532S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon14:c.G1594A:p.G532S;ENSG00000166960:ENST00000402325:exon14:c.G1594A:p.G532S;ENSG00000166960:ENST00000583930:exon15:c.G1594A:p.G532S;ENSG00000166960:ENST00000383096:exon16:c.G1594A:p.G532S;ENSG00000166960:ENST00000300227:exon16:c.G1594A:p.G532S;ENSG00000166960:ENST00000403303:exon15:c.G1594A:p.G532S;ENSG00000166960:ENST00000581524:exon3:c.G235A:p.G79S;ENSG00000166960:ENST00000579947:exon16:c.G1594A:p.G532S;	0.40314774697982	0.42
18	30806820	C	A	18	33226856	y	y	splicing	CCDC178(NM_001105528:exon16:c.1594-1G>T;NM_198995:exon17:c.1594-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1594-1G>T;ENST00000581524:exon4:c.235-1G>T;ENST00000383096:exon17:c.1594-1G>T;ENST00000300227:exon17:c.1594-1G>T;ENST00000406524:exon15:c.1594-1G>T;ENST00000583930:exon16:c.1594-1G>T;ENST00000402325:exon15:c.1594-1G>T;ENST00000579947:exon17:c.1594-1G>T)	.	.	0.999934105785091	0.876
18	30806820	C	G	18	33226856	y	y	splicing	CCDC178(NM_001105528:exon16:c.1594-1G>C;NM_198995:exon17:c.1594-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1594-1G>C;ENST00000581524:exon4:c.235-1G>C;ENST00000383096:exon17:c.1594-1G>C;ENST00000300227:exon17:c.1594-1G>C;ENST00000406524:exon15:c.1594-1G>C;ENST00000583930:exon16:c.1594-1G>C;ENST00000402325:exon15:c.1594-1G>C;ENST00000579947:exon17:c.1594-1G>C)	.	.	0.999934105785091	0.868
18	30806820	C	T	18	33226856	y	y	splicing	CCDC178(NM_001105528:exon16:c.1594-1G>A;NM_198995:exon17:c.1594-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1594-1G>A;ENST00000581524:exon4:c.235-1G>A;ENST00000383096:exon17:c.1594-1G>A;ENST00000300227:exon17:c.1594-1G>A;ENST00000406524:exon15:c.1594-1G>A;ENST00000583930:exon16:c.1594-1G>A;ENST00000402325:exon15:c.1594-1G>A;ENST00000579947:exon17:c.1594-1G>A)	.	.	0.999964024092745	0.878
18	30806821	T	A	18	33226857	y	y	splicing	CCDC178(NM_001105528:exon16:c.1594-2A>T;NM_198995:exon17:c.1594-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1594-2A>T;ENST00000581524:exon4:c.235-2A>T;ENST00000383096:exon17:c.1594-2A>T;ENST00000300227:exon17:c.1594-2A>T;ENST00000406524:exon15:c.1594-2A>T;ENST00000583930:exon16:c.1594-2A>T;ENST00000402325:exon15:c.1594-2A>T;ENST00000579947:exon17:c.1594-2A>T)	.	.	0.999948844427023	0.848
18	30806821	T	C	18	33226857	y	y	splicing	CCDC178(NM_001105528:exon16:c.1594-2A>G;NM_198995:exon17:c.1594-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1594-2A>G;ENST00000581524:exon4:c.235-2A>G;ENST00000383096:exon17:c.1594-2A>G;ENST00000300227:exon17:c.1594-2A>G;ENST00000406524:exon15:c.1594-2A>G;ENST00000583930:exon16:c.1594-2A>G;ENST00000402325:exon15:c.1594-2A>G;ENST00000579947:exon17:c.1594-2A>G)	.	.	0.999948844427023	0.812
18	30806821	T	G	18	33226857	y	y	splicing	CCDC178(NM_001105528:exon16:c.1594-2A>C;NM_198995:exon17:c.1594-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon16:c.1594-2A>C;ENST00000581524:exon4:c.235-2A>C;ENST00000383096:exon17:c.1594-2A>C;ENST00000300227:exon17:c.1594-2A>C;ENST00000406524:exon15:c.1594-2A>C;ENST00000583930:exon16:c.1594-2A>C;ENST00000402325:exon15:c.1594-2A>C;ENST00000579947:exon17:c.1594-2A>C)	.	.	0.999948844427023	0.81
18	30806822	A	C	18	33226858	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.304221802446246	0.488
18	30806822	A	G	18	33226858	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.23884475304592E-5	0.054
18	30806822	A	T	18	33226858	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00562327405171135	0.18
18	30806823	T	A	18	33226859	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.75259688146253E-5	0.014
18	30806823	T	C	18	33226859	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.32224393130667E-5	0.062
18	30806823	T	G	18	33226859	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.9578168658098E-5	0.008
18	30806824	A	C	18	33226860	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999231103322243	0.942
18	30806824	A	G	18	33226860	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.54980057022396E-4	0.026
18	30806824	A	T	18	33226860	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0857509062131167	0.504
18	30806825	T	A	18	33226861	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.94676664783226E-5	0.004
18	30806825	T	C	18	33226861	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.58669859276185E-5	0.004
18	30806825	T	G	18	33226861	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.94676664783226E-5	0.004
18	30806826	G	A	18	33226862	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.10537310687704E-4	0.018
18	30806826	G	C	18	33226862	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999775054857439	0.966
18	30806826	G	T	18	33226862	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00638102308647165	0.16
18	30806827	T	A	18	33226863	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.65422916612634E-4	0.014
18	30806827	T	C	18	33226863	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998991007443962	0.926
18	30806827	T	G	18	33226863	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.47462551517894E-4	0.006
18	30806828	T	A	18	33226864	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.98501777021816E-5	0.006
18	30806828	T	C	18	33226864	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.66766023502909E-4	0.148
18	30806828	T	G	18	33226864	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.22681982810392E-5	0.0
18	30806829	A	C	18	33226865	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.360094387265461	0.574
18	30806829	A	G	18	33226865	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0027503160781585	0.062
18	30806829	A	T	18	33226865	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.274044148038458	0.626
18	30806830	G	A	18	33226866	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.40158433888594E-5	0.01
18	30806830	G	C	18	33226866	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00181730552942677	0.078
18	30806830	G	T	18	33226866	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00173161321278043	0.11
18	30806831	G	A	18	33226867	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.51279625877579E-5	0.0
18	30806831	G	C	18	33226867	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00183141801612871	0.052
18	30806831	G	T	18	33226867	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00173452366385894	0.026
18	30825201	T	A	18	33245237	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0010377477103523	.
18	30825201	T	C	18	33245237	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.22030732797979E-4	.
18	30825201	T	G	18	33245237	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.72177400079374E-4	.
18	30825202	A	C	18	33245238	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.92491088933807E-4	.
18	30825202	A	G	18	33245238	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.19075017798137E-4	.
18	30825202	A	T	18	33245238	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.32270661833105E-4	.
18	30825203	C	A	18	33245239	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.45123908281252E-4	.
18	30825203	C	G	18	33245239	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00207818101289719	.
18	30825203	C	T	18	33245239	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.001154343105748	.
18	30825204	A	C	18	33245240	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.1245780035977E-4	.
18	30825204	A	G	18	33245240	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.07282554004708E-4	.
18	30825204	A	T	18	33245240	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.66968234385284E-5	.
18	30825205	C	A	18	33245241	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.08919531471178E-4	.
18	30825205	C	G	18	33245241	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.72392829269408E-4	.
18	30825205	C	T	18	33245241	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.46535644247218E-4	.
18	30825206	A	C	18	33245242	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.66368473498784E-4	.
18	30825206	A	G	18	33245242	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00120665697292278	.
18	30825206	A	T	18	33245242	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.40539098950545E-4	.
18	30825207	A	C	18	33245243	y	y	splicing	CCDC178(NM_001105528:exon15:c.1593+2T>G;NM_198995:exon16:c.1593+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1593+2T>G;ENST00000581524:exon3:c.234+2T>G;ENST00000383096:exon16:c.1593+2T>G;ENST00000300227:exon16:c.1593+2T>G;ENST00000406524:exon14:c.1593+2T>G;ENST00000583930:exon15:c.1593+2T>G;ENST00000402325:exon14:c.1593+2T>G;ENST00000579947:exon16:c.1593+2T>G)	.	.	0.99994515364607	.
18	30825207	A	G	18	33245243	y	y	splicing	CCDC178(NM_001105528:exon15:c.1593+2T>C;NM_198995:exon16:c.1593+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1593+2T>C;ENST00000581524:exon3:c.234+2T>C;ENST00000383096:exon16:c.1593+2T>C;ENST00000300227:exon16:c.1593+2T>C;ENST00000406524:exon14:c.1593+2T>C;ENST00000583930:exon15:c.1593+2T>C;ENST00000402325:exon14:c.1593+2T>C;ENST00000579947:exon16:c.1593+2T>C)	.	.	0.999348655145203	.
18	30825207	A	T	18	33245243	y	y	splicing	CCDC178(NM_001105528:exon15:c.1593+2T>A;NM_198995:exon16:c.1593+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1593+2T>A;ENST00000581524:exon3:c.234+2T>A;ENST00000383096:exon16:c.1593+2T>A;ENST00000300227:exon16:c.1593+2T>A;ENST00000406524:exon14:c.1593+2T>A;ENST00000583930:exon15:c.1593+2T>A;ENST00000402325:exon14:c.1593+2T>A;ENST00000579947:exon16:c.1593+2T>A)	.	.	0.99994515364607	.
18	30825208	C	A	18	33245244	y	y	splicing	CCDC178(NM_001105528:exon15:c.1593+1G>T;NM_198995:exon16:c.1593+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1593+1G>T;ENST00000581524:exon3:c.234+1G>T;ENST00000383096:exon16:c.1593+1G>T;ENST00000300227:exon16:c.1593+1G>T;ENST00000406524:exon14:c.1593+1G>T;ENST00000583930:exon15:c.1593+1G>T;ENST00000402325:exon14:c.1593+1G>T;ENST00000579947:exon16:c.1593+1G>T)	.	.	0.999984672175407	.
18	30825208	C	G	18	33245244	y	y	splicing	CCDC178(NM_001105528:exon15:c.1593+1G>C;NM_198995:exon16:c.1593+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1593+1G>C;ENST00000581524:exon3:c.234+1G>C;ENST00000383096:exon16:c.1593+1G>C;ENST00000300227:exon16:c.1593+1G>C;ENST00000406524:exon14:c.1593+1G>C;ENST00000583930:exon15:c.1593+1G>C;ENST00000402325:exon14:c.1593+1G>C;ENST00000579947:exon16:c.1593+1G>C)	.	.	0.999984672175407	.
18	30825208	C	T	18	33245244	y	y	splicing	CCDC178(NM_001105528:exon15:c.1593+1G>A;NM_198995:exon16:c.1593+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1593+1G>A;ENST00000581524:exon3:c.234+1G>A;ENST00000383096:exon16:c.1593+1G>A;ENST00000300227:exon16:c.1593+1G>A;ENST00000406524:exon14:c.1593+1G>A;ENST00000583930:exon15:c.1593+1G>A;ENST00000402325:exon14:c.1593+1G>A;ENST00000579947:exon16:c.1593+1G>A)	.	.	0.999984672175407	.
18	30825209	C	A	18	33245245	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.G1593T:p.K531N;CCDC178:NM_198995:exon15:c.G1593T:p.K531N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.G1593T:p.K531N;ENSG00000166960:ENST00000402325:exon13:c.G1593T:p.K531N;ENSG00000166960:ENST00000583930:exon14:c.G1593T:p.K531N;ENSG00000166960:ENST00000383096:exon15:c.G1593T:p.K531N;ENSG00000166960:ENST00000300227:exon15:c.G1593T:p.K531N;ENSG00000166960:ENST00000403303:exon14:c.G1593T:p.K531N;ENSG00000166960:ENST00000581524:exon2:c.G234T:p.K78N;ENSG00000166960:ENST00000579947:exon15:c.G1593T:p.K531N;	0.999725492240696	.
18	30825209	C	G	18	33245245	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.G1593C:p.K531N;CCDC178:NM_198995:exon15:c.G1593C:p.K531N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.G1593C:p.K531N;ENSG00000166960:ENST00000402325:exon13:c.G1593C:p.K531N;ENSG00000166960:ENST00000583930:exon14:c.G1593C:p.K531N;ENSG00000166960:ENST00000383096:exon15:c.G1593C:p.K531N;ENSG00000166960:ENST00000300227:exon15:c.G1593C:p.K531N;ENSG00000166960:ENST00000403303:exon14:c.G1593C:p.K531N;ENSG00000166960:ENST00000581524:exon2:c.G234C:p.K78N;ENSG00000166960:ENST00000579947:exon15:c.G1593C:p.K531N;	0.999885447100665	.
18	30825209	C	T	18	33245245	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon14:c.G1593A:p.K531K;CCDC178:NM_198995:exon15:c.G1593A:p.K531K;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.G1593A:p.K531K;ENSG00000166960:ENST00000402325:exon13:c.G1593A:p.K531K;ENSG00000166960:ENST00000583930:exon14:c.G1593A:p.K531K;ENSG00000166960:ENST00000383096:exon15:c.G1593A:p.K531K;ENSG00000166960:ENST00000300227:exon15:c.G1593A:p.K531K;ENSG00000166960:ENST00000403303:exon14:c.G1593A:p.K531K;ENSG00000166960:ENST00000581524:exon2:c.G234A:p.K78K;ENSG00000166960:ENST00000579947:exon15:c.G1593A:p.K531K;	0.99979397912425	.
18	30825210	T	A	18	33245246	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.A1592T:p.K531M;CCDC178:NM_198995:exon15:c.A1592T:p.K531M;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.A1592T:p.K531M;ENSG00000166960:ENST00000402325:exon13:c.A1592T:p.K531M;ENSG00000166960:ENST00000583930:exon14:c.A1592T:p.K531M;ENSG00000166960:ENST00000383096:exon15:c.A1592T:p.K531M;ENSG00000166960:ENST00000300227:exon15:c.A1592T:p.K531M;ENSG00000166960:ENST00000403303:exon14:c.A1592T:p.K531M;ENSG00000166960:ENST00000581524:exon2:c.A233T:p.K78M;ENSG00000166960:ENST00000579947:exon15:c.A1592T:p.K531M;	0.605804010861646	.
18	30825210	T	C	18	33245246	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.A1592G:p.K531R;CCDC178:NM_198995:exon15:c.A1592G:p.K531R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.A1592G:p.K531R;ENSG00000166960:ENST00000402325:exon13:c.A1592G:p.K531R;ENSG00000166960:ENST00000583930:exon14:c.A1592G:p.K531R;ENSG00000166960:ENST00000383096:exon15:c.A1592G:p.K531R;ENSG00000166960:ENST00000300227:exon15:c.A1592G:p.K531R;ENSG00000166960:ENST00000403303:exon14:c.A1592G:p.K531R;ENSG00000166960:ENST00000581524:exon2:c.A233G:p.K78R;ENSG00000166960:ENST00000579947:exon15:c.A1592G:p.K531R;	0.931786107683366	.
18	30825210	T	G	18	33245246	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.A1592C:p.K531T;CCDC178:NM_198995:exon15:c.A1592C:p.K531T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.A1592C:p.K531T;ENSG00000166960:ENST00000402325:exon13:c.A1592C:p.K531T;ENSG00000166960:ENST00000583930:exon14:c.A1592C:p.K531T;ENSG00000166960:ENST00000383096:exon15:c.A1592C:p.K531T;ENSG00000166960:ENST00000300227:exon15:c.A1592C:p.K531T;ENSG00000166960:ENST00000403303:exon14:c.A1592C:p.K531T;ENSG00000166960:ENST00000581524:exon2:c.A233C:p.K78T;ENSG00000166960:ENST00000579947:exon15:c.A1592C:p.K531T;	0.796209117712392	.
18	30825211	T	A	18	33245247	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon14:c.A1591T:p.K531X;CCDC178:NM_198995:exon15:c.A1591T:p.K531X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon13:c.A1591T:p.K531X;ENSG00000166960:ENST00000402325:exon13:c.A1591T:p.K531X;ENSG00000166960:ENST00000583930:exon14:c.A1591T:p.K531X;ENSG00000166960:ENST00000383096:exon15:c.A1591T:p.K531X;ENSG00000166960:ENST00000300227:exon15:c.A1591T:p.K531X;ENSG00000166960:ENST00000403303:exon14:c.A1591T:p.K531X;ENSG00000166960:ENST00000581524:exon2:c.A232T:p.K78X;ENSG00000166960:ENST00000579947:exon15:c.A1591T:p.K531X;	0.727671478857843	.
18	30825211	T	C	18	33245247	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.A1591G:p.K531E;CCDC178:NM_198995:exon15:c.A1591G:p.K531E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.A1591G:p.K531E;ENSG00000166960:ENST00000402325:exon13:c.A1591G:p.K531E;ENSG00000166960:ENST00000583930:exon14:c.A1591G:p.K531E;ENSG00000166960:ENST00000383096:exon15:c.A1591G:p.K531E;ENSG00000166960:ENST00000300227:exon15:c.A1591G:p.K531E;ENSG00000166960:ENST00000403303:exon14:c.A1591G:p.K531E;ENSG00000166960:ENST00000581524:exon2:c.A232G:p.K78E;ENSG00000166960:ENST00000579947:exon15:c.A1591G:p.K531E;	0.00116501947983003	.
18	30825211	T	G	18	33245247	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.A1591C:p.K531Q;CCDC178:NM_198995:exon15:c.A1591C:p.K531Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.A1591C:p.K531Q;ENSG00000166960:ENST00000402325:exon13:c.A1591C:p.K531Q;ENSG00000166960:ENST00000583930:exon14:c.A1591C:p.K531Q;ENSG00000166960:ENST00000383096:exon15:c.A1591C:p.K531Q;ENSG00000166960:ENST00000300227:exon15:c.A1591C:p.K531Q;ENSG00000166960:ENST00000403303:exon14:c.A1591C:p.K531Q;ENSG00000166960:ENST00000581524:exon2:c.A232C:p.K78Q;ENSG00000166960:ENST00000579947:exon15:c.A1591C:p.K531Q;	3.92959841179452E-4	.
18	30825391	T	A	18	33245427	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.A1411T:p.I471L;CCDC178:NM_198995:exon15:c.A1411T:p.I471L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.A1411T:p.I471L;ENSG00000166960:ENST00000402325:exon13:c.A1411T:p.I471L;ENSG00000166960:ENST00000583930:exon14:c.A1411T:p.I471L;ENSG00000166960:ENST00000383096:exon15:c.A1411T:p.I471L;ENSG00000166960:ENST00000300227:exon15:c.A1411T:p.I471L;ENSG00000166960:ENST00000403303:exon14:c.A1411T:p.I471L;ENSG00000166960:ENST00000581524:exon2:c.A52T:p.I18L;ENSG00000166960:ENST00000579947:exon15:c.A1411T:p.I471L;	1.51615851866788E-4	0.0
18	30825391	T	C	18	33245427	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.A1411G:p.I471V;CCDC178:NM_198995:exon15:c.A1411G:p.I471V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.A1411G:p.I471V;ENSG00000166960:ENST00000402325:exon13:c.A1411G:p.I471V;ENSG00000166960:ENST00000583930:exon14:c.A1411G:p.I471V;ENSG00000166960:ENST00000383096:exon15:c.A1411G:p.I471V;ENSG00000166960:ENST00000300227:exon15:c.A1411G:p.I471V;ENSG00000166960:ENST00000403303:exon14:c.A1411G:p.I471V;ENSG00000166960:ENST00000581524:exon2:c.A52G:p.I18V;ENSG00000166960:ENST00000579947:exon15:c.A1411G:p.I471V;	2.51650306670293E-5	0.01
18	30825391	T	G	18	33245427	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.A1411C:p.I471L;CCDC178:NM_198995:exon15:c.A1411C:p.I471L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.A1411C:p.I471L;ENSG00000166960:ENST00000402325:exon13:c.A1411C:p.I471L;ENSG00000166960:ENST00000583930:exon14:c.A1411C:p.I471L;ENSG00000166960:ENST00000383096:exon15:c.A1411C:p.I471L;ENSG00000166960:ENST00000300227:exon15:c.A1411C:p.I471L;ENSG00000166960:ENST00000403303:exon14:c.A1411C:p.I471L;ENSG00000166960:ENST00000581524:exon2:c.A52C:p.I18L;ENSG00000166960:ENST00000579947:exon15:c.A1411C:p.I471L;	1.55003663120657E-4	0.008
18	30825392	G	A	18	33245428	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon14:c.C1410T:p.S470S;CCDC178:NM_198995:exon15:c.C1410T:p.S470S;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.C1410T:p.S470S;ENSG00000166960:ENST00000402325:exon13:c.C1410T:p.S470S;ENSG00000166960:ENST00000583930:exon14:c.C1410T:p.S470S;ENSG00000166960:ENST00000383096:exon15:c.C1410T:p.S470S;ENSG00000166960:ENST00000300227:exon15:c.C1410T:p.S470S;ENSG00000166960:ENST00000403303:exon14:c.C1410T:p.S470S;ENSG00000166960:ENST00000581524:exon2:c.C51T:p.S17S;ENSG00000166960:ENST00000579947:exon15:c.C1410T:p.S470S;	3.09033916347795E-5	0.008
18	30825392	G	C	18	33245428	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.C1410G:p.S470R;CCDC178:NM_198995:exon15:c.C1410G:p.S470R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.C1410G:p.S470R;ENSG00000166960:ENST00000402325:exon13:c.C1410G:p.S470R;ENSG00000166960:ENST00000583930:exon14:c.C1410G:p.S470R;ENSG00000166960:ENST00000383096:exon15:c.C1410G:p.S470R;ENSG00000166960:ENST00000300227:exon15:c.C1410G:p.S470R;ENSG00000166960:ENST00000403303:exon14:c.C1410G:p.S470R;ENSG00000166960:ENST00000581524:exon2:c.C51G:p.S17R;ENSG00000166960:ENST00000579947:exon15:c.C1410G:p.S470R;	2.70438288227916E-5	0.094
18	30825392	G	T	18	33245428	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon14:c.C1410A:p.S470R;CCDC178:NM_198995:exon15:c.C1410A:p.S470R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon13:c.C1410A:p.S470R;ENSG00000166960:ENST00000402325:exon13:c.C1410A:p.S470R;ENSG00000166960:ENST00000583930:exon14:c.C1410A:p.S470R;ENSG00000166960:ENST00000383096:exon15:c.C1410A:p.S470R;ENSG00000166960:ENST00000300227:exon15:c.C1410A:p.S470R;ENSG00000166960:ENST00000403303:exon14:c.C1410A:p.S470R;ENSG00000166960:ENST00000581524:exon2:c.C51A:p.S17R;ENSG00000166960:ENST00000579947:exon15:c.C1410A:p.S470R;	1.18275069626288E-5	0.0
18	30825393	C	A	18	33245429	y	y	splicing	CCDC178(NM_001105528:exon15:c.1410-1G>T;NM_198995:exon16:c.1410-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1410-1G>T;ENST00000581524:exon3:c.51-1G>T;ENST00000383096:exon16:c.1410-1G>T;ENST00000300227:exon16:c.1410-1G>T;ENST00000406524:exon14:c.1410-1G>T;ENST00000583930:exon15:c.1410-1G>T;ENST00000402325:exon14:c.1410-1G>T;ENST00000579947:exon16:c.1410-1G>T)	.	.	0.999977614472875	0.794
18	30825393	C	G	18	33245429	y	y	splicing	CCDC178(NM_001105528:exon15:c.1410-1G>C;NM_198995:exon16:c.1410-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1410-1G>C;ENST00000581524:exon3:c.51-1G>C;ENST00000383096:exon16:c.1410-1G>C;ENST00000300227:exon16:c.1410-1G>C;ENST00000406524:exon14:c.1410-1G>C;ENST00000583930:exon15:c.1410-1G>C;ENST00000402325:exon14:c.1410-1G>C;ENST00000579947:exon16:c.1410-1G>C)	.	.	0.999977614472875	0.772
18	30825393	C	T	18	33245429	y	y	splicing	CCDC178(NM_001105528:exon15:c.1410-1G>A;NM_198995:exon16:c.1410-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1410-1G>A;ENST00000581524:exon3:c.51-1G>A;ENST00000383096:exon16:c.1410-1G>A;ENST00000300227:exon16:c.1410-1G>A;ENST00000406524:exon14:c.1410-1G>A;ENST00000583930:exon15:c.1410-1G>A;ENST00000402325:exon14:c.1410-1G>A;ENST00000579947:exon16:c.1410-1G>A)	.	.	0.999958003653399	0.812
18	30825394	T	A	18	33245430	y	y	splicing	CCDC178(NM_001105528:exon15:c.1410-2A>T;NM_198995:exon16:c.1410-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1410-2A>T;ENST00000581524:exon3:c.51-2A>T;ENST00000383096:exon16:c.1410-2A>T;ENST00000300227:exon16:c.1410-2A>T;ENST00000406524:exon14:c.1410-2A>T;ENST00000583930:exon15:c.1410-2A>T;ENST00000402325:exon14:c.1410-2A>T;ENST00000579947:exon16:c.1410-2A>T)	.	.	0.999962958601995	0.798
18	30825394	T	C	18	33245430	y	y	splicing	CCDC178(NM_001105528:exon15:c.1410-2A>G;NM_198995:exon16:c.1410-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1410-2A>G;ENST00000581524:exon3:c.51-2A>G;ENST00000383096:exon16:c.1410-2A>G;ENST00000300227:exon16:c.1410-2A>G;ENST00000406524:exon14:c.1410-2A>G;ENST00000583930:exon15:c.1410-2A>G;ENST00000402325:exon14:c.1410-2A>G;ENST00000579947:exon16:c.1410-2A>G)	.	.	0.999962958601995	0.794
18	30825394	T	G	18	33245430	y	y	splicing	CCDC178(NM_001105528:exon15:c.1410-2A>C;NM_198995:exon16:c.1410-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon15:c.1410-2A>C;ENST00000581524:exon3:c.51-2A>C;ENST00000383096:exon16:c.1410-2A>C;ENST00000300227:exon16:c.1410-2A>C;ENST00000406524:exon14:c.1410-2A>C;ENST00000583930:exon15:c.1410-2A>C;ENST00000402325:exon14:c.1410-2A>C;ENST00000579947:exon16:c.1410-2A>C)	.	.	0.999962958601995	0.794
18	30825395	G	A	18	33245431	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.00912236884497E-4	0.102
18	30825395	G	C	18	33245431	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.997399712439636	0.854
18	30825395	G	T	18	33245431	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0277866955435605	0.456
18	30825396	T	A	18	33245432	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.29531550918219E-5	0.006
18	30825396	T	C	18	33245432	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.26886836036888E-5	0.01
18	30825396	T	G	18	33245432	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.90921935362373E-5	0.008
18	30825397	A	C	18	33245433	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.137957382194128	0.424
18	30825397	A	G	18	33245433	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00731269357274135	0.108
18	30825397	A	T	18	33245433	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0686865119073436	0.396
18	30825398	A	C	18	33245434	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.034724107306978	0.154
18	30825398	A	G	18	33245434	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.67959605374564E-4	0.006
18	30825398	A	T	18	33245434	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0259491462786802	0.158
18	30825399	A	C	18	33245435	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00120531670078206	0.102
18	30825399	A	G	18	33245435	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.14777433865316E-4	0.004
18	30825399	A	T	18	33245435	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00595828268685734	0.19
18	30825400	A	C	18	33245436	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00283216234129712	0.164
18	30825400	A	G	18	33245436	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.28502562466703E-4	0.028
18	30825400	A	T	18	33245436	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.012864398969025	0.152
18	30825401	G	A	18	33245437	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.52106509223344E-6	0.002
18	30825401	G	C	18	33245437	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.993580520400612	0.976
18	30825401	G	T	18	33245437	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.37607369975426E-4	0.012
18	30825402	T	A	18	33245438	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.00583970547254E-4	0.018
18	30825402	T	C	18	33245438	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.86436359089451E-5	0.0
18	30825402	T	G	18	33245438	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.1091217893434E-5	0.002
18	30825403	A	C	18	33245439	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00913710451295349	0.27
18	30825403	A	G	18	33245439	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00422275674059772	0.092
18	30825403	A	T	18	33245439	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0128344982364341	0.342
18	30825404	A	C	18	33245440	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00170728372843472	0.098
18	30825404	A	G	18	33245440	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.30371603853604E-5	0.0
18	30825404	A	T	18	33245440	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.00251000194049E-4	0.072
18	30846872	A	C	18	33266908	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.00783251142804E-5	0.002
18	30846872	A	G	18	33266908	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.49782718160587E-5	0.0
18	30846872	A	T	18	33266908	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.49782718160587E-5	0.002
18	30846873	A	C	18	33266909	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.78389654127837E-5	0.002
18	30846873	A	G	18	33266909	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.78389654127837E-5	0.002
18	30846873	A	T	18	33266909	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.78389654127837E-5	0.014
18	30846874	A	C	18	33266910	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00240323646537871	0.11
18	30846874	A	G	18	33266910	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.100941460666954	0.25
18	30846874	A	T	18	33266910	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0532592615284933	0.128
18	30846875	T	A	18	33266911	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.24260914872808E-4	0.008
18	30846875	T	C	18	33266911	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.62021877127615E-4	0.094
18	30846875	T	G	18	33266911	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.75838913025138E-4	0.022
18	30846876	T	A	18	33266912	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.246402194185154	0.364
18	30846876	T	C	18	33266912	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0962763965461612	0.356
18	30846876	T	G	18	33266912	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.214738151129793	0.404
18	30846877	T	A	18	33266913	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999397807051357	0.828
18	30846877	T	C	18	33266913	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.617826521517177	0.568
18	30846877	T	G	18	33266913	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999609559786711	0.882
18	30846878	A	C	18	33266914	y	y	splicing	CCDC178(NM_001105528:exon14:c.1409+2T>G;NM_198995:exon15:c.1409+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1409+2T>G;ENST00000581524:exon2:c.50+2T>G;ENST00000383096:exon15:c.1409+2T>G;ENST00000300227:exon15:c.1409+2T>G;ENST00000406524:exon13:c.1409+2T>G;ENST00000583930:exon14:c.1409+2T>G;ENST00000402325:exon13:c.1409+2T>G;ENST00000579947:exon15:c.1409+2T>G)	.	.	0.999980516178445	0.824
18	30846878	A	G	18	33266914	y	y	splicing	CCDC178(NM_001105528:exon14:c.1409+2T>C;NM_198995:exon15:c.1409+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1409+2T>C;ENST00000581524:exon2:c.50+2T>C;ENST00000383096:exon15:c.1409+2T>C;ENST00000300227:exon15:c.1409+2T>C;ENST00000406524:exon13:c.1409+2T>C;ENST00000583930:exon14:c.1409+2T>C;ENST00000402325:exon13:c.1409+2T>C;ENST00000579947:exon15:c.1409+2T>C)	.	.	0.92617617394246	0.56
18	30846878	A	T	18	33266914	y	y	splicing	CCDC178(NM_001105528:exon14:c.1409+2T>A;NM_198995:exon15:c.1409+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1409+2T>A;ENST00000581524:exon2:c.50+2T>A;ENST00000383096:exon15:c.1409+2T>A;ENST00000300227:exon15:c.1409+2T>A;ENST00000406524:exon13:c.1409+2T>A;ENST00000583930:exon14:c.1409+2T>A;ENST00000402325:exon13:c.1409+2T>A;ENST00000579947:exon15:c.1409+2T>A)	.	.	0.99998382861657	0.846
18	30846879	C	A	18	33266915	y	y	splicing	CCDC178(NM_001105528:exon14:c.1409+1G>T;NM_198995:exon15:c.1409+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1409+1G>T;ENST00000581524:exon2:c.50+1G>T;ENST00000383096:exon15:c.1409+1G>T;ENST00000300227:exon15:c.1409+1G>T;ENST00000406524:exon13:c.1409+1G>T;ENST00000583930:exon14:c.1409+1G>T;ENST00000402325:exon13:c.1409+1G>T;ENST00000579947:exon15:c.1409+1G>T)	.	.	0.999962958601995	0.816
18	30846879	C	G	18	33266915	y	y	splicing	CCDC178(NM_001105528:exon14:c.1409+1G>C;NM_198995:exon15:c.1409+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1409+1G>C;ENST00000581524:exon2:c.50+1G>C;ENST00000383096:exon15:c.1409+1G>C;ENST00000300227:exon15:c.1409+1G>C;ENST00000406524:exon13:c.1409+1G>C;ENST00000583930:exon14:c.1409+1G>C;ENST00000402325:exon13:c.1409+1G>C;ENST00000579947:exon15:c.1409+1G>C)	.	.	0.999962958601995	0.812
18	30846879	C	T	18	33266915	y	y	splicing	CCDC178(NM_001105528:exon14:c.1409+1G>A;NM_198995:exon15:c.1409+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1409+1G>A;ENST00000581524:exon2:c.50+1G>A;ENST00000383096:exon15:c.1409+1G>A;ENST00000300227:exon15:c.1409+1G>A;ENST00000406524:exon13:c.1409+1G>A;ENST00000583930:exon14:c.1409+1G>A;ENST00000402325:exon13:c.1409+1G>A;ENST00000579947:exon15:c.1409+1G>A)	.	.	0.999962958601995	0.852
18	30846880	C	A	18	33266916	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.G1409T:p.S470I;CCDC178:NM_198995:exon14:c.G1409T:p.S470I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.G1409T:p.S470I;ENSG00000166960:ENST00000402325:exon12:c.G1409T:p.S470I;ENSG00000166960:ENST00000583930:exon13:c.G1409T:p.S470I;ENSG00000166960:ENST00000383096:exon14:c.G1409T:p.S470I;ENSG00000166960:ENST00000300227:exon14:c.G1409T:p.S470I;ENSG00000166960:ENST00000403303:exon13:c.G1409T:p.S470I;ENSG00000166960:ENST00000581524:exon1:c.G50T:p.S17I;ENSG00000166960:ENST00000579947:exon14:c.G1409T:p.S470I;	0.999406447917595	0.926
18	30846880	C	G	18	33266916	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.G1409C:p.S470T;CCDC178:NM_198995:exon14:c.G1409C:p.S470T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.G1409C:p.S470T;ENSG00000166960:ENST00000402325:exon12:c.G1409C:p.S470T;ENSG00000166960:ENST00000583930:exon13:c.G1409C:p.S470T;ENSG00000166960:ENST00000383096:exon14:c.G1409C:p.S470T;ENSG00000166960:ENST00000300227:exon14:c.G1409C:p.S470T;ENSG00000166960:ENST00000403303:exon13:c.G1409C:p.S470T;ENSG00000166960:ENST00000581524:exon1:c.G50C:p.S17T;ENSG00000166960:ENST00000579947:exon14:c.G1409C:p.S470T;	0.999994377417755	0.958
18	30846880	C	T	18	33266916	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.G1409A:p.S470N;CCDC178:NM_198995:exon14:c.G1409A:p.S470N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.G1409A:p.S470N;ENSG00000166960:ENST00000402325:exon12:c.G1409A:p.S470N;ENSG00000166960:ENST00000583930:exon13:c.G1409A:p.S470N;ENSG00000166960:ENST00000383096:exon14:c.G1409A:p.S470N;ENSG00000166960:ENST00000300227:exon14:c.G1409A:p.S470N;ENSG00000166960:ENST00000403303:exon13:c.G1409A:p.S470N;ENSG00000166960:ENST00000581524:exon1:c.G50A:p.S17N;ENSG00000166960:ENST00000579947:exon14:c.G1409A:p.S470N;	0.997614438943233	0.942
18	30846881	T	A	18	33266917	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1408T:p.S470C;CCDC178:NM_198995:exon14:c.A1408T:p.S470C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1408T:p.S470C;ENSG00000166960:ENST00000402325:exon12:c.A1408T:p.S470C;ENSG00000166960:ENST00000583930:exon13:c.A1408T:p.S470C;ENSG00000166960:ENST00000383096:exon14:c.A1408T:p.S470C;ENSG00000166960:ENST00000300227:exon14:c.A1408T:p.S470C;ENSG00000166960:ENST00000403303:exon13:c.A1408T:p.S470C;ENSG00000166960:ENST00000581524:exon1:c.A49T:p.S17C;ENSG00000166960:ENST00000579947:exon14:c.A1408T:p.S470C;	0.958216544413723	0.656
18	30846881	T	C	18	33266917	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1408G:p.S470G;CCDC178:NM_198995:exon14:c.A1408G:p.S470G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1408G:p.S470G;ENSG00000166960:ENST00000402325:exon12:c.A1408G:p.S470G;ENSG00000166960:ENST00000583930:exon13:c.A1408G:p.S470G;ENSG00000166960:ENST00000383096:exon14:c.A1408G:p.S470G;ENSG00000166960:ENST00000300227:exon14:c.A1408G:p.S470G;ENSG00000166960:ENST00000403303:exon13:c.A1408G:p.S470G;ENSG00000166960:ENST00000581524:exon1:c.A49G:p.S17G;ENSG00000166960:ENST00000579947:exon14:c.A1408G:p.S470G;	0.869170253950444	0.648
18	30846881	T	G	18	33266917	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1408C:p.S470R;CCDC178:NM_198995:exon14:c.A1408C:p.S470R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1408C:p.S470R;ENSG00000166960:ENST00000402325:exon12:c.A1408C:p.S470R;ENSG00000166960:ENST00000583930:exon13:c.A1408C:p.S470R;ENSG00000166960:ENST00000383096:exon14:c.A1408C:p.S470R;ENSG00000166960:ENST00000300227:exon14:c.A1408C:p.S470R;ENSG00000166960:ENST00000403303:exon13:c.A1408C:p.S470R;ENSG00000166960:ENST00000581524:exon1:c.A49C:p.S17R;ENSG00000166960:ENST00000579947:exon14:c.A1408C:p.S470R;	0.579667036751681	0.434
18	30846882	T	A	18	33266918	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1407T:p.E469D;CCDC178:NM_198995:exon14:c.A1407T:p.E469D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1407T:p.E469D;ENSG00000166960:ENST00000402325:exon12:c.A1407T:p.E469D;ENSG00000166960:ENST00000583930:exon13:c.A1407T:p.E469D;ENSG00000166960:ENST00000383096:exon14:c.A1407T:p.E469D;ENSG00000166960:ENST00000300227:exon14:c.A1407T:p.E469D;ENSG00000166960:ENST00000403303:exon13:c.A1407T:p.E469D;ENSG00000166960:ENST00000581524:exon1:c.A48T:p.E16D;ENSG00000166960:ENST00000579947:exon14:c.A1407T:p.E469D;	0.0117444435725977	0.254
18	30846882	T	C	18	33266918	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon13:c.A1407G:p.E469E;CCDC178:NM_198995:exon14:c.A1407G:p.E469E;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1407G:p.E469E;ENSG00000166960:ENST00000402325:exon12:c.A1407G:p.E469E;ENSG00000166960:ENST00000583930:exon13:c.A1407G:p.E469E;ENSG00000166960:ENST00000383096:exon14:c.A1407G:p.E469E;ENSG00000166960:ENST00000300227:exon14:c.A1407G:p.E469E;ENSG00000166960:ENST00000403303:exon13:c.A1407G:p.E469E;ENSG00000166960:ENST00000581524:exon1:c.A48G:p.E16E;ENSG00000166960:ENST00000579947:exon14:c.A1407G:p.E469E;	2.16001449637656E-5	0.014
18	30846882	T	G	18	33266918	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1407C:p.E469D;CCDC178:NM_198995:exon14:c.A1407C:p.E469D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1407C:p.E469D;ENSG00000166960:ENST00000402325:exon12:c.A1407C:p.E469D;ENSG00000166960:ENST00000583930:exon13:c.A1407C:p.E469D;ENSG00000166960:ENST00000383096:exon14:c.A1407C:p.E469D;ENSG00000166960:ENST00000300227:exon14:c.A1407C:p.E469D;ENSG00000166960:ENST00000403303:exon13:c.A1407C:p.E469D;ENSG00000166960:ENST00000581524:exon1:c.A48C:p.E16D;ENSG00000166960:ENST00000579947:exon14:c.A1407C:p.E469D;	1.2899786628156E-4	0.0
18	30847015	T	A	18	33267051	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1274T:p.K425I;CCDC178:NM_198995:exon14:c.A1274T:p.K425I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1274T:p.K425I;ENSG00000166960:ENST00000402325:exon12:c.A1274T:p.K425I;ENSG00000166960:ENST00000583930:exon13:c.A1274T:p.K425I;ENSG00000166960:ENST00000383096:exon14:c.A1274T:p.K425I;ENSG00000166960:ENST00000300227:exon14:c.A1274T:p.K425I;ENSG00000166960:ENST00000403303:exon13:c.A1274T:p.K425I;ENSG00000166960:ENST00000579947:exon14:c.A1274T:p.K425I;	0.00295863578471667	0.004
18	30847015	T	C	18	33267051	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1274G:p.K425R;CCDC178:NM_198995:exon14:c.A1274G:p.K425R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1274G:p.K425R;ENSG00000166960:ENST00000402325:exon12:c.A1274G:p.K425R;ENSG00000166960:ENST00000583930:exon13:c.A1274G:p.K425R;ENSG00000166960:ENST00000383096:exon14:c.A1274G:p.K425R;ENSG00000166960:ENST00000300227:exon14:c.A1274G:p.K425R;ENSG00000166960:ENST00000403303:exon13:c.A1274G:p.K425R;ENSG00000166960:ENST00000579947:exon14:c.A1274G:p.K425R;	0.00224614113391042	0.026
18	30847015	T	G	18	33267051	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1274C:p.K425T;CCDC178:NM_198995:exon14:c.A1274C:p.K425T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1274C:p.K425T;ENSG00000166960:ENST00000402325:exon12:c.A1274C:p.K425T;ENSG00000166960:ENST00000583930:exon13:c.A1274C:p.K425T;ENSG00000166960:ENST00000383096:exon14:c.A1274C:p.K425T;ENSG00000166960:ENST00000300227:exon14:c.A1274C:p.K425T;ENSG00000166960:ENST00000403303:exon13:c.A1274C:p.K425T;ENSG00000166960:ENST00000579947:exon14:c.A1274C:p.K425T;	0.00855115162486946	0.022
18	30847016	T	A	18	33267052	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon13:c.A1273T:p.K425X;CCDC178:NM_198995:exon14:c.A1273T:p.K425X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon12:c.A1273T:p.K425X;ENSG00000166960:ENST00000402325:exon12:c.A1273T:p.K425X;ENSG00000166960:ENST00000583930:exon13:c.A1273T:p.K425X;ENSG00000166960:ENST00000383096:exon14:c.A1273T:p.K425X;ENSG00000166960:ENST00000300227:exon14:c.A1273T:p.K425X;ENSG00000166960:ENST00000403303:exon13:c.A1273T:p.K425X;ENSG00000166960:ENST00000579947:exon14:c.A1273T:p.K425X;	8.60439068339907E-4	0.252
18	30847016	T	C	18	33267052	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1273G:p.K425E;CCDC178:NM_198995:exon14:c.A1273G:p.K425E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1273G:p.K425E;ENSG00000166960:ENST00000402325:exon12:c.A1273G:p.K425E;ENSG00000166960:ENST00000583930:exon13:c.A1273G:p.K425E;ENSG00000166960:ENST00000383096:exon14:c.A1273G:p.K425E;ENSG00000166960:ENST00000300227:exon14:c.A1273G:p.K425E;ENSG00000166960:ENST00000403303:exon13:c.A1273G:p.K425E;ENSG00000166960:ENST00000579947:exon14:c.A1273G:p.K425E;	4.87259729633893E-5	0.01
18	30847016	T	G	18	33267052	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon13:c.A1273C:p.K425Q;CCDC178:NM_198995:exon14:c.A1273C:p.K425Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon12:c.A1273C:p.K425Q;ENSG00000166960:ENST00000402325:exon12:c.A1273C:p.K425Q;ENSG00000166960:ENST00000583930:exon13:c.A1273C:p.K425Q;ENSG00000166960:ENST00000383096:exon14:c.A1273C:p.K425Q;ENSG00000166960:ENST00000300227:exon14:c.A1273C:p.K425Q;ENSG00000166960:ENST00000403303:exon13:c.A1273C:p.K425Q;ENSG00000166960:ENST00000579947:exon14:c.A1273C:p.K425Q;	4.34256198510155E-4	0.03
18	30847017	C	A	18	33267053	y	y	splicing	CCDC178(NM_001105528:exon14:c.1273-1G>T;NM_198995:exon15:c.1273-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1273-1G>T;ENST00000383096:exon15:c.1273-1G>T;ENST00000300227:exon15:c.1273-1G>T;ENST00000406524:exon13:c.1273-1G>T;ENST00000583930:exon14:c.1273-1G>T;ENST00000402325:exon13:c.1273-1G>T;ENST00000579947:exon15:c.1273-1G>T)	.	.	0.999946188727699	0.952
18	30847017	C	G	18	33267053	y	y	splicing	CCDC178(NM_001105528:exon14:c.1273-1G>C;NM_198995:exon15:c.1273-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1273-1G>C;ENST00000383096:exon15:c.1273-1G>C;ENST00000300227:exon15:c.1273-1G>C;ENST00000406524:exon13:c.1273-1G>C;ENST00000583930:exon14:c.1273-1G>C;ENST00000402325:exon13:c.1273-1G>C;ENST00000579947:exon15:c.1273-1G>C)	.	.	0.999946188727699	0.95
18	30847017	C	T	18	33267053	y	y	splicing	CCDC178(NM_001105528:exon14:c.1273-1G>A;NM_198995:exon15:c.1273-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1273-1G>A;ENST00000383096:exon15:c.1273-1G>A;ENST00000300227:exon15:c.1273-1G>A;ENST00000406524:exon13:c.1273-1G>A;ENST00000583930:exon14:c.1273-1G>A;ENST00000402325:exon13:c.1273-1G>A;ENST00000579947:exon15:c.1273-1G>A)	.	.	0.999946188727699	0.952
18	30847018	T	A	18	33267054	y	y	splicing	CCDC178(NM_001105528:exon14:c.1273-2A>T;NM_198995:exon15:c.1273-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1273-2A>T;ENST00000383096:exon15:c.1273-2A>T;ENST00000300227:exon15:c.1273-2A>T;ENST00000406524:exon13:c.1273-2A>T;ENST00000583930:exon14:c.1273-2A>T;ENST00000402325:exon13:c.1273-2A>T;ENST00000579947:exon15:c.1273-2A>T)	.	.	0.999978278263889	0.944
18	30847018	T	C	18	33267054	y	y	splicing	CCDC178(NM_001105528:exon14:c.1273-2A>G;NM_198995:exon15:c.1273-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1273-2A>G;ENST00000383096:exon15:c.1273-2A>G;ENST00000300227:exon15:c.1273-2A>G;ENST00000406524:exon13:c.1273-2A>G;ENST00000583930:exon14:c.1273-2A>G;ENST00000402325:exon13:c.1273-2A>G;ENST00000579947:exon15:c.1273-2A>G)	.	.	0.9999784785434	0.946
18	30847018	T	G	18	33267054	y	y	splicing	CCDC178(NM_001105528:exon14:c.1273-2A>C;NM_198995:exon15:c.1273-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon14:c.1273-2A>C;ENST00000383096:exon15:c.1273-2A>C;ENST00000300227:exon15:c.1273-2A>C;ENST00000406524:exon13:c.1273-2A>C;ENST00000583930:exon14:c.1273-2A>C;ENST00000402325:exon13:c.1273-2A>C;ENST00000579947:exon15:c.1273-2A>C)	.	.	0.9999784785434	0.946
18	30847019	T	A	18	33267055	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00387323367272804	0.046
18	30847019	T	C	18	33267055	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.749051328877826	0.41
18	30847019	T	G	18	33267055	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00587110226645362	0.102
18	30847020	T	A	18	33267056	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.05151987197588E-4	0.018
18	30847020	T	C	18	33267056	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.40512627622465E-5	0.006
18	30847020	T	G	18	33267056	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.26429331699962E-4	0.0
18	30847021	A	C	18	33267057	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.149939621204485	0.38
18	30847021	A	G	18	33267057	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0117248007109534	0.128
18	30847021	A	T	18	33267057	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0305768251020947	0.352
18	30847022	A	C	18	33267058	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0550247735934103	0.228
18	30847022	A	G	18	33267058	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.24060758928589E-5	0.01
18	30847022	A	T	18	33267058	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0264321810902082	0.162
18	30847023	G	A	18	33267059	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.8145212121109E-5	0.002
18	30847023	G	C	18	33267059	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.4392880686388E-4	0.044
18	30847023	G	T	18	33267059	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00210556876275333	0.082
18	30847024	A	C	18	33267060	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00475608158471522	0.172
18	30847024	A	G	18	33267060	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.83085321152246E-4	0.01
18	30847024	A	T	18	33267060	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0279366140436466	0.142
18	30847025	A	C	18	33267061	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00695454198868022	0.156
18	30847025	A	G	18	33267061	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00108257025006167	0.014
18	30847025	A	T	18	33267061	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00315556710550262	0.202
18	30847026	A	C	18	33267062	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.69705869717555E-4	0.102
18	30847026	A	G	18	33267062	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.48079546497254E-4	0.01
18	30847026	A	T	18	33267062	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00169976962562583	0.174
18	30847027	A	C	18	33267063	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00454685633754392	0.166
18	30847027	A	G	18	33267063	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00112260684792636	0.048
18	30847027	A	T	18	33267063	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00184307882520058	0.174
18	30847028	G	A	18	33267064	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.82072370942175E-5	0.004
18	30847028	G	C	18	33267064	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.944962460624E-4	0.038
18	30847028	G	T	18	33267064	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00236196111442351	0.098
18	30847158	C	A	18	33267194	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.96653435898131E-5	0.0
18	30847158	C	G	18	33267194	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.76219177366152E-4	0.0
18	30847158	C	T	18	33267194	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.00452755224637E-5	0.0
18	30847159	A	C	18	33267195	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.56789130595614E-5	0.0
18	30847159	A	G	18	33267195	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.56789130595614E-5	0.0
18	30847159	A	T	18	33267195	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.08366949536456E-5	0.0
18	30847160	A	C	18	33267196	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.982153395576095	0.87
18	30847160	A	G	18	33267196	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.991917065893747	0.89
18	30847160	A	T	18	33267196	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.970638578124041	0.768
18	30847161	C	A	18	33267197	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999979576468003	0.996
18	30847161	C	G	18	33267197	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999986141774186	0.974
18	30847161	C	T	18	33267197	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999984494587674	0.998
18	30847162	T	A	18	33267198	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.996811558176903	0.846
18	30847162	T	C	18	33267198	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.996012518004554	0.816
18	30847162	T	G	18	33267198	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.994696078074364	0.852
18	30847163	T	A	18	33267199	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999881329419925	0.948
18	30847163	T	C	18	33267199	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.838994611208016	0.496
18	30847163	T	G	18	33267199	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999851475327194	0.93
18	30847164	A	C	18	33267200	y	y	splicing	CCDC178(NM_001105528:exon13:c.1272+2T>G;NM_198995:exon14:c.1272+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1272+2T>G;ENST00000383096:exon14:c.1272+2T>G;ENST00000300227:exon14:c.1272+2T>G;ENST00000406524:exon12:c.1272+2T>G;ENST00000583930:exon13:c.1272+2T>G;ENST00000402325:exon12:c.1272+2T>G;ENST00000579947:exon14:c.1272+2T>G)	.	.	0.999978278263889	0.93
18	30847164	A	G	18	33267200	y	y	splicing	CCDC178(NM_001105528:exon13:c.1272+2T>C;NM_198995:exon14:c.1272+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1272+2T>C;ENST00000383096:exon14:c.1272+2T>C;ENST00000300227:exon14:c.1272+2T>C;ENST00000406524:exon12:c.1272+2T>C;ENST00000583930:exon13:c.1272+2T>C;ENST00000402325:exon12:c.1272+2T>C;ENST00000579947:exon14:c.1272+2T>C)	.	.	0.98947773341259	0.616
18	30847164	A	T	18	33267200	y	y	splicing	CCDC178(NM_001105528:exon13:c.1272+2T>A;NM_198995:exon14:c.1272+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1272+2T>A;ENST00000383096:exon14:c.1272+2T>A;ENST00000300227:exon14:c.1272+2T>A;ENST00000406524:exon12:c.1272+2T>A;ENST00000583930:exon13:c.1272+2T>A;ENST00000402325:exon12:c.1272+2T>A;ENST00000579947:exon14:c.1272+2T>A)	.	.	0.999978278263889	0.926
18	30847165	C	A	18	33267201	y	y	splicing	CCDC178(NM_001105528:exon13:c.1272+1G>T;NM_198995:exon14:c.1272+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1272+1G>T;ENST00000383096:exon14:c.1272+1G>T;ENST00000300227:exon14:c.1272+1G>T;ENST00000406524:exon12:c.1272+1G>T;ENST00000583930:exon13:c.1272+1G>T;ENST00000402325:exon12:c.1272+1G>T;ENST00000579947:exon14:c.1272+1G>T)	.	.	0.99994568797423	0.936
18	30847165	C	G	18	33267201	y	y	splicing	CCDC178(NM_001105528:exon13:c.1272+1G>C;NM_198995:exon14:c.1272+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1272+1G>C;ENST00000383096:exon14:c.1272+1G>C;ENST00000300227:exon14:c.1272+1G>C;ENST00000406524:exon12:c.1272+1G>C;ENST00000583930:exon13:c.1272+1G>C;ENST00000402325:exon12:c.1272+1G>C;ENST00000579947:exon14:c.1272+1G>C)	.	.	0.99994568797423	0.946
18	30847165	C	T	18	33267201	y	y	splicing	CCDC178(NM_001105528:exon13:c.1272+1G>A;NM_198995:exon14:c.1272+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1272+1G>A;ENST00000383096:exon14:c.1272+1G>A;ENST00000300227:exon14:c.1272+1G>A;ENST00000406524:exon12:c.1272+1G>A;ENST00000583930:exon13:c.1272+1G>A;ENST00000402325:exon12:c.1272+1G>A;ENST00000579947:exon14:c.1272+1G>A)	.	.	0.99994568797423	0.936
18	30847166	T	A	18	33267202	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon12:c.A1272T:p.A424A;CCDC178:NM_198995:exon13:c.A1272T:p.A424A;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.A1272T:p.A424A;ENSG00000166960:ENST00000402325:exon11:c.A1272T:p.A424A;ENSG00000166960:ENST00000583930:exon12:c.A1272T:p.A424A;ENSG00000166960:ENST00000383096:exon13:c.A1272T:p.A424A;ENSG00000166960:ENST00000300227:exon13:c.A1272T:p.A424A;ENSG00000166960:ENST00000403303:exon12:c.A1272T:p.A424A;ENSG00000166960:ENST00000579947:exon13:c.A1272T:p.A424A;	1.72698513921093E-4	0.058
18	30847166	T	C	18	33267202	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon12:c.A1272G:p.A424A;CCDC178:NM_198995:exon13:c.A1272G:p.A424A;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.A1272G:p.A424A;ENSG00000166960:ENST00000402325:exon11:c.A1272G:p.A424A;ENSG00000166960:ENST00000583930:exon12:c.A1272G:p.A424A;ENSG00000166960:ENST00000383096:exon13:c.A1272G:p.A424A;ENSG00000166960:ENST00000300227:exon13:c.A1272G:p.A424A;ENSG00000166960:ENST00000403303:exon12:c.A1272G:p.A424A;ENSG00000166960:ENST00000579947:exon13:c.A1272G:p.A424A;	3.42898511534845E-4	0.128
18	30847166	T	G	18	33267202	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon12:c.A1272C:p.A424A;CCDC178:NM_198995:exon13:c.A1272C:p.A424A;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.A1272C:p.A424A;ENSG00000166960:ENST00000402325:exon11:c.A1272C:p.A424A;ENSG00000166960:ENST00000583930:exon12:c.A1272C:p.A424A;ENSG00000166960:ENST00000383096:exon13:c.A1272C:p.A424A;ENSG00000166960:ENST00000300227:exon13:c.A1272C:p.A424A;ENSG00000166960:ENST00000403303:exon12:c.A1272C:p.A424A;ENSG00000166960:ENST00000579947:exon13:c.A1272C:p.A424A;	1.31552702384367E-4	0.012
18	30847167	G	A	18	33267203	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.C1271T:p.A424V;CCDC178:NM_198995:exon13:c.C1271T:p.A424V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.C1271T:p.A424V;ENSG00000166960:ENST00000402325:exon11:c.C1271T:p.A424V;ENSG00000166960:ENST00000583930:exon12:c.C1271T:p.A424V;ENSG00000166960:ENST00000383096:exon13:c.C1271T:p.A424V;ENSG00000166960:ENST00000300227:exon13:c.C1271T:p.A424V;ENSG00000166960:ENST00000403303:exon12:c.C1271T:p.A424V;ENSG00000166960:ENST00000579947:exon13:c.C1271T:p.A424V;	3.16161712909501E-4	0.036
18	30847167	G	C	18	33267203	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.C1271G:p.A424G;CCDC178:NM_198995:exon13:c.C1271G:p.A424G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.C1271G:p.A424G;ENSG00000166960:ENST00000402325:exon11:c.C1271G:p.A424G;ENSG00000166960:ENST00000583930:exon12:c.C1271G:p.A424G;ENSG00000166960:ENST00000383096:exon13:c.C1271G:p.A424G;ENSG00000166960:ENST00000300227:exon13:c.C1271G:p.A424G;ENSG00000166960:ENST00000403303:exon12:c.C1271G:p.A424G;ENSG00000166960:ENST00000579947:exon13:c.C1271G:p.A424G;	1.63682002920041E-4	0.028
18	30847167	G	T	18	33267203	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.C1271A:p.A424E;CCDC178:NM_198995:exon13:c.C1271A:p.A424E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.C1271A:p.A424E;ENSG00000166960:ENST00000402325:exon11:c.C1271A:p.A424E;ENSG00000166960:ENST00000583930:exon12:c.C1271A:p.A424E;ENSG00000166960:ENST00000383096:exon13:c.C1271A:p.A424E;ENSG00000166960:ENST00000300227:exon13:c.C1271A:p.A424E;ENSG00000166960:ENST00000403303:exon12:c.C1271A:p.A424E;ENSG00000166960:ENST00000579947:exon13:c.C1271A:p.A424E;	3.2671899791348E-4	0.118
18	30847168	C	A	18	33267204	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.G1270T:p.A424S;CCDC178:NM_198995:exon13:c.G1270T:p.A424S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.G1270T:p.A424S;ENSG00000166960:ENST00000402325:exon11:c.G1270T:p.A424S;ENSG00000166960:ENST00000583930:exon12:c.G1270T:p.A424S;ENSG00000166960:ENST00000383096:exon13:c.G1270T:p.A424S;ENSG00000166960:ENST00000300227:exon13:c.G1270T:p.A424S;ENSG00000166960:ENST00000403303:exon12:c.G1270T:p.A424S;ENSG00000166960:ENST00000579947:exon13:c.G1270T:p.A424S;	3.11902601580594E-4	0.02
18	30847168	C	G	18	33267204	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.G1270C:p.A424P;CCDC178:NM_198995:exon13:c.G1270C:p.A424P;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.G1270C:p.A424P;ENSG00000166960:ENST00000402325:exon11:c.G1270C:p.A424P;ENSG00000166960:ENST00000583930:exon12:c.G1270C:p.A424P;ENSG00000166960:ENST00000383096:exon13:c.G1270C:p.A424P;ENSG00000166960:ENST00000300227:exon13:c.G1270C:p.A424P;ENSG00000166960:ENST00000403303:exon12:c.G1270C:p.A424P;ENSG00000166960:ENST00000579947:exon13:c.G1270C:p.A424P;	1.21950249974816E-4	0.056
18	30847168	C	T	18	33267204	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.G1270A:p.A424T;CCDC178:NM_198995:exon13:c.G1270A:p.A424T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.G1270A:p.A424T;ENSG00000166960:ENST00000402325:exon11:c.G1270A:p.A424T;ENSG00000166960:ENST00000583930:exon12:c.G1270A:p.A424T;ENSG00000166960:ENST00000383096:exon13:c.G1270A:p.A424T;ENSG00000166960:ENST00000300227:exon13:c.G1270A:p.A424T;ENSG00000166960:ENST00000403303:exon12:c.G1270A:p.A424T;ENSG00000166960:ENST00000579947:exon13:c.G1270A:p.A424T;	6.11259182314135E-5	0.0
18	30847260	A	C	18	33267296	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.T1178G:p.L393R;CCDC178:NM_198995:exon13:c.T1178G:p.L393R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.T1178G:p.L393R;ENSG00000166960:ENST00000402325:exon11:c.T1178G:p.L393R;ENSG00000166960:ENST00000583930:exon12:c.T1178G:p.L393R;ENSG00000166960:ENST00000383096:exon13:c.T1178G:p.L393R;ENSG00000166960:ENST00000300227:exon13:c.T1178G:p.L393R;ENSG00000166960:ENST00000403303:exon12:c.T1178G:p.L393R;ENSG00000166960:ENST00000579947:exon13:c.T1178G:p.L393R;	8.99842104876414E-4	0.016
18	30847260	A	G	18	33267296	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.T1178C:p.L393P;CCDC178:NM_198995:exon13:c.T1178C:p.L393P;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.T1178C:p.L393P;ENSG00000166960:ENST00000402325:exon11:c.T1178C:p.L393P;ENSG00000166960:ENST00000583930:exon12:c.T1178C:p.L393P;ENSG00000166960:ENST00000383096:exon13:c.T1178C:p.L393P;ENSG00000166960:ENST00000300227:exon13:c.T1178C:p.L393P;ENSG00000166960:ENST00000403303:exon12:c.T1178C:p.L393P;ENSG00000166960:ENST00000579947:exon13:c.T1178C:p.L393P;	0.0017187156681161	0.042
18	30847260	A	T	18	33267296	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.T1178A:p.L393Q;CCDC178:NM_198995:exon13:c.T1178A:p.L393Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.T1178A:p.L393Q;ENSG00000166960:ENST00000402325:exon11:c.T1178A:p.L393Q;ENSG00000166960:ENST00000583930:exon12:c.T1178A:p.L393Q;ENSG00000166960:ENST00000383096:exon13:c.T1178A:p.L393Q;ENSG00000166960:ENST00000300227:exon13:c.T1178A:p.L393Q;ENSG00000166960:ENST00000403303:exon12:c.T1178A:p.L393Q;ENSG00000166960:ENST00000579947:exon13:c.T1178A:p.L393Q;	0.0057492904532082	0.094
18	30847261	G	A	18	33267297	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon12:c.C1177T:p.L393L;CCDC178:NM_198995:exon13:c.C1177T:p.L393L;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.C1177T:p.L393L;ENSG00000166960:ENST00000402325:exon11:c.C1177T:p.L393L;ENSG00000166960:ENST00000583930:exon12:c.C1177T:p.L393L;ENSG00000166960:ENST00000383096:exon13:c.C1177T:p.L393L;ENSG00000166960:ENST00000300227:exon13:c.C1177T:p.L393L;ENSG00000166960:ENST00000403303:exon12:c.C1177T:p.L393L;ENSG00000166960:ENST00000579947:exon13:c.C1177T:p.L393L;	2.50422049655899E-5	0.05
18	30847261	G	C	18	33267297	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.C1177G:p.L393V;CCDC178:NM_198995:exon13:c.C1177G:p.L393V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.C1177G:p.L393V;ENSG00000166960:ENST00000402325:exon11:c.C1177G:p.L393V;ENSG00000166960:ENST00000583930:exon12:c.C1177G:p.L393V;ENSG00000166960:ENST00000383096:exon13:c.C1177G:p.L393V;ENSG00000166960:ENST00000300227:exon13:c.C1177G:p.L393V;ENSG00000166960:ENST00000403303:exon12:c.C1177G:p.L393V;ENSG00000166960:ENST00000579947:exon13:c.C1177G:p.L393V;	1.62754713390836E-4	0.14
18	30847261	G	T	18	33267297	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon12:c.C1177A:p.L393M;CCDC178:NM_198995:exon13:c.C1177A:p.L393M;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon11:c.C1177A:p.L393M;ENSG00000166960:ENST00000402325:exon11:c.C1177A:p.L393M;ENSG00000166960:ENST00000583930:exon12:c.C1177A:p.L393M;ENSG00000166960:ENST00000383096:exon13:c.C1177A:p.L393M;ENSG00000166960:ENST00000300227:exon13:c.C1177A:p.L393M;ENSG00000166960:ENST00000403303:exon12:c.C1177A:p.L393M;ENSG00000166960:ENST00000579947:exon13:c.C1177A:p.L393M;	3.51976625181902E-5	0.002
18	30847262	C	A	18	33267298	y	y	splicing	CCDC178(NM_001105528:exon13:c.1177-1G>T;NM_198995:exon14:c.1177-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1177-1G>T;ENST00000383096:exon14:c.1177-1G>T;ENST00000300227:exon14:c.1177-1G>T;ENST00000406524:exon12:c.1177-1G>T;ENST00000583930:exon13:c.1177-1G>T;ENST00000402325:exon12:c.1177-1G>T;ENST00000579947:exon14:c.1177-1G>T)	.	.	0.999989378869813	0.76
18	30847262	C	G	18	33267298	y	y	splicing	CCDC178(NM_001105528:exon13:c.1177-1G>C;NM_198995:exon14:c.1177-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1177-1G>C;ENST00000383096:exon14:c.1177-1G>C;ENST00000300227:exon14:c.1177-1G>C;ENST00000406524:exon12:c.1177-1G>C;ENST00000583930:exon13:c.1177-1G>C;ENST00000402325:exon12:c.1177-1G>C;ENST00000579947:exon14:c.1177-1G>C)	.	.	0.999989378869813	0.762
18	30847262	C	T	18	33267298	y	y	splicing	CCDC178(NM_001105528:exon13:c.1177-1G>A;NM_198995:exon14:c.1177-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1177-1G>A;ENST00000383096:exon14:c.1177-1G>A;ENST00000300227:exon14:c.1177-1G>A;ENST00000406524:exon12:c.1177-1G>A;ENST00000583930:exon13:c.1177-1G>A;ENST00000402325:exon12:c.1177-1G>A;ENST00000579947:exon14:c.1177-1G>A)	.	.	0.999989378869813	0.758
18	30847263	T	A	18	33267299	y	y	splicing	CCDC178(NM_001105528:exon13:c.1177-2A>T;NM_198995:exon14:c.1177-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1177-2A>T;ENST00000383096:exon14:c.1177-2A>T;ENST00000300227:exon14:c.1177-2A>T;ENST00000406524:exon12:c.1177-2A>T;ENST00000583930:exon13:c.1177-2A>T;ENST00000402325:exon12:c.1177-2A>T;ENST00000579947:exon14:c.1177-2A>T)	.	.	0.999991794264552	0.752
18	30847263	T	C	18	33267299	y	y	splicing	CCDC178(NM_001105528:exon13:c.1177-2A>G;NM_198995:exon14:c.1177-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1177-2A>G;ENST00000383096:exon14:c.1177-2A>G;ENST00000300227:exon14:c.1177-2A>G;ENST00000406524:exon12:c.1177-2A>G;ENST00000583930:exon13:c.1177-2A>G;ENST00000402325:exon12:c.1177-2A>G;ENST00000579947:exon14:c.1177-2A>G)	.	.	0.999994413342239	0.754
18	30847263	T	G	18	33267299	y	y	splicing	CCDC178(NM_001105528:exon13:c.1177-2A>C;NM_198995:exon14:c.1177-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon13:c.1177-2A>C;ENST00000383096:exon14:c.1177-2A>C;ENST00000300227:exon14:c.1177-2A>C;ENST00000406524:exon12:c.1177-2A>C;ENST00000583930:exon13:c.1177-2A>C;ENST00000402325:exon12:c.1177-2A>C;ENST00000579947:exon14:c.1177-2A>C)	.	.	0.999994413342239	0.754
18	30847264	A	C	18	33267300	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.99880714493825	0.75
18	30847264	A	G	18	33267300	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.2081014635256E-4	0.048
18	30847264	A	T	18	33267300	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0172442114736764	0.148
18	30847265	A	C	18	33267301	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.55546989640439E-5	0.002
18	30847265	A	G	18	33267301	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.48643700525277E-5	0.0
18	30847265	A	T	18	33267301	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.11337185388308E-5	0.0
18	30847266	G	A	18	33267302	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.97821465566141E-5	0.0
18	30847266	G	C	18	33267302	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.3350413256805E-4	0.064
18	30847266	G	T	18	33267302	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.10802887663018E-4	0.038
18	30847267	A	C	18	33267303	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00360494611177737	0.118
18	30847267	A	G	18	33267303	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.11022329438442E-5	0.002
18	30847267	A	T	18	33267303	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00504616696602604	0.086
18	30847268	A	C	18	33267304	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.06366403165938E-5	0.016
18	30847268	A	G	18	33267304	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.11032545251618E-5	0.002
18	30847268	A	T	18	33267304	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.28173047985361E-4	0.052
18	30847269	A	C	18	33267305	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.73422729069328E-5	0.056
18	30847269	A	G	18	33267305	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.07122734730874E-5	0.0
18	30847269	A	T	18	33267305	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.20882507291732E-4	0.022
18	30847270	G	A	18	33267306	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.5978167311153E-6	0.004
18	30847270	G	C	18	33267306	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.91859002678202E-5	0.07
18	30847270	G	T	18	33267306	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.98426570600854E-5	0.044
18	30847271	A	C	18	33267307	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.5612543266426E-4	0.096
18	30847271	A	G	18	33267307	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.8576571539694E-5	0.0
18	30847271	A	T	18	33267307	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.68840745065952E-4	0.094
18	30847272	A	C	18	33267308	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.4913814348687E-4	0.19
18	30847272	A	G	18	33267308	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00119606392947998	0.114
18	30847272	A	T	18	33267308	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00425778463218215	0.264
18	30847273	G	A	18	33267309	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.96264045828284E-5	0.008
18	30847273	G	C	18	33267309	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.75528664338506E-5	0.042
18	30847273	G	T	18	33267309	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.98540728049857E-5	0.016
18	30873115	A	C	18	33293151	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.33114130835261E-4	0.01
18	30873115	A	G	18	33293151	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00122634053111847	0.016
18	30873115	A	T	18	33293151	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00120650939231401	0.016
18	30873116	A	C	18	33293152	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00789057351623131	0.04
18	30873116	A	G	18	33293152	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00889667340528939	0.038
18	30873116	A	T	18	33293152	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00880493352886119	0.044
18	30873117	A	C	18	33293153	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00824288215162405	0.21
18	30873117	A	G	18	33293153	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0235768835081762	0.142
18	30873117	A	T	18	33293153	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0722598849482314	0.26
18	30873118	C	A	18	33293154	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999510991174306	0.86
18	30873118	C	G	18	33293154	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999862805906321	0.918
18	30873118	C	T	18	33293154	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998806069584328	0.836
18	30873119	T	A	18	33293155	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.990621693611493	0.564
18	30873119	T	C	18	33293155	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.969229790580098	0.586
18	30873119	T	G	18	33293155	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.621701930190685	0.412
18	30873120	C	A	18	33293156	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.137558543482834	0.37
18	30873120	C	G	18	33293156	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.655825438304823	0.486
18	30873120	C	T	18	33293156	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.60148094027885E-5	0.0
18	30873121	A	C	18	33293157	y	y	splicing	CCDC178(NM_001105528:exon12:c.1176+2T>G;NM_198995:exon13:c.1176+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1176+2T>G;ENST00000383096:exon13:c.1176+2T>G;ENST00000300227:exon13:c.1176+2T>G;ENST00000406524:exon11:c.1176+2T>G;ENST00000583930:exon12:c.1176+2T>G;ENST00000402325:exon11:c.1176+2T>G;ENST00000579947:exon13:c.1176+2T>G)	.	.	0.999978986619032	0.944
18	30873121	A	G	18	33293157	y	y	splicing	CCDC178(NM_001105528:exon12:c.1176+2T>C;NM_198995:exon13:c.1176+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1176+2T>C;ENST00000383096:exon13:c.1176+2T>C;ENST00000300227:exon13:c.1176+2T>C;ENST00000406524:exon11:c.1176+2T>C;ENST00000583930:exon12:c.1176+2T>C;ENST00000402325:exon11:c.1176+2T>C;ENST00000579947:exon13:c.1176+2T>C)	.	.	0.999903433416823	0.89
18	30873121	A	T	18	33293157	y	y	splicing	CCDC178(NM_001105528:exon12:c.1176+2T>A;NM_198995:exon13:c.1176+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1176+2T>A;ENST00000383096:exon13:c.1176+2T>A;ENST00000300227:exon13:c.1176+2T>A;ENST00000406524:exon11:c.1176+2T>A;ENST00000583930:exon12:c.1176+2T>A;ENST00000402325:exon11:c.1176+2T>A;ENST00000579947:exon13:c.1176+2T>A)	.	.	0.999978986619032	0.946
18	30873122	C	A	18	33293158	y	y	splicing	CCDC178(NM_001105528:exon12:c.1176+1G>T;NM_198995:exon13:c.1176+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1176+1G>T;ENST00000383096:exon13:c.1176+1G>T;ENST00000300227:exon13:c.1176+1G>T;ENST00000406524:exon11:c.1176+1G>T;ENST00000583930:exon12:c.1176+1G>T;ENST00000402325:exon11:c.1176+1G>T;ENST00000579947:exon13:c.1176+1G>T)	.	.	0.999964896440643	0.936
18	30873122	C	G	18	33293158	y	y	splicing	CCDC178(NM_001105528:exon12:c.1176+1G>C;NM_198995:exon13:c.1176+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1176+1G>C;ENST00000383096:exon13:c.1176+1G>C;ENST00000300227:exon13:c.1176+1G>C;ENST00000406524:exon11:c.1176+1G>C;ENST00000583930:exon12:c.1176+1G>C;ENST00000402325:exon11:c.1176+1G>C;ENST00000579947:exon13:c.1176+1G>C)	.	.	0.999963671976247	0.918
18	30873122	C	T	18	33293158	y	y	splicing	CCDC178(NM_001105528:exon12:c.1176+1G>A;NM_198995:exon13:c.1176+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1176+1G>A;ENST00000383096:exon13:c.1176+1G>A;ENST00000300227:exon13:c.1176+1G>A;ENST00000406524:exon11:c.1176+1G>A;ENST00000583930:exon12:c.1176+1G>A;ENST00000402325:exon11:c.1176+1G>A;ENST00000579947:exon13:c.1176+1G>A)	.	.	0.999964896440643	0.938
18	30873123	C	A	18	33293159	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.G1176T:p.M392I;CCDC178:NM_198995:exon12:c.G1176T:p.M392I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.G1176T:p.M392I;ENSG00000166960:ENST00000402325:exon10:c.G1176T:p.M392I;ENSG00000166960:ENST00000583930:exon11:c.G1176T:p.M392I;ENSG00000166960:ENST00000383096:exon12:c.G1176T:p.M392I;ENSG00000166960:ENST00000300227:exon12:c.G1176T:p.M392I;ENSG00000166960:ENST00000403303:exon11:c.G1176T:p.M392I;ENSG00000166960:ENST00000579947:exon12:c.G1176T:p.M392I;	0.903112537730418	0.72
18	30873123	C	G	18	33293159	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.G1176C:p.M392I;CCDC178:NM_198995:exon12:c.G1176C:p.M392I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.G1176C:p.M392I;ENSG00000166960:ENST00000402325:exon10:c.G1176C:p.M392I;ENSG00000166960:ENST00000583930:exon11:c.G1176C:p.M392I;ENSG00000166960:ENST00000383096:exon12:c.G1176C:p.M392I;ENSG00000166960:ENST00000300227:exon12:c.G1176C:p.M392I;ENSG00000166960:ENST00000403303:exon11:c.G1176C:p.M392I;ENSG00000166960:ENST00000579947:exon12:c.G1176C:p.M392I;	0.819985162221669	0.692
18	30873123	C	T	18	33293159	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.G1176A:p.M392I;CCDC178:NM_198995:exon12:c.G1176A:p.M392I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.G1176A:p.M392I;ENSG00000166960:ENST00000402325:exon10:c.G1176A:p.M392I;ENSG00000166960:ENST00000583930:exon11:c.G1176A:p.M392I;ENSG00000166960:ENST00000383096:exon12:c.G1176A:p.M392I;ENSG00000166960:ENST00000300227:exon12:c.G1176A:p.M392I;ENSG00000166960:ENST00000403303:exon11:c.G1176A:p.M392I;ENSG00000166960:ENST00000579947:exon12:c.G1176A:p.M392I;	0.857454392868262	0.818
18	30873124	A	C	18	33293160	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.T1175G:p.M392R;CCDC178:NM_198995:exon12:c.T1175G:p.M392R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.T1175G:p.M392R;ENSG00000166960:ENST00000402325:exon10:c.T1175G:p.M392R;ENSG00000166960:ENST00000583930:exon11:c.T1175G:p.M392R;ENSG00000166960:ENST00000383096:exon12:c.T1175G:p.M392R;ENSG00000166960:ENST00000300227:exon12:c.T1175G:p.M392R;ENSG00000166960:ENST00000403303:exon11:c.T1175G:p.M392R;ENSG00000166960:ENST00000579947:exon12:c.T1175G:p.M392R;	3.91044645336457E-5	0.002
18	30873124	A	G	18	33293160	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.T1175C:p.M392T;CCDC178:NM_198995:exon12:c.T1175C:p.M392T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.T1175C:p.M392T;ENSG00000166960:ENST00000402325:exon10:c.T1175C:p.M392T;ENSG00000166960:ENST00000583930:exon11:c.T1175C:p.M392T;ENSG00000166960:ENST00000383096:exon12:c.T1175C:p.M392T;ENSG00000166960:ENST00000300227:exon12:c.T1175C:p.M392T;ENSG00000166960:ENST00000403303:exon11:c.T1175C:p.M392T;ENSG00000166960:ENST00000579947:exon12:c.T1175C:p.M392T;	3.27816502771031E-5	0.004
18	30873124	A	T	18	33293160	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.T1175A:p.M392K;CCDC178:NM_198995:exon12:c.T1175A:p.M392K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.T1175A:p.M392K;ENSG00000166960:ENST00000402325:exon10:c.T1175A:p.M392K;ENSG00000166960:ENST00000583930:exon11:c.T1175A:p.M392K;ENSG00000166960:ENST00000383096:exon12:c.T1175A:p.M392K;ENSG00000166960:ENST00000300227:exon12:c.T1175A:p.M392K;ENSG00000166960:ENST00000403303:exon11:c.T1175A:p.M392K;ENSG00000166960:ENST00000579947:exon12:c.T1175A:p.M392K;	1.82597964282213E-5	0.058
18	30873125	T	A	18	33293161	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.A1174T:p.M392L;CCDC178:NM_198995:exon12:c.A1174T:p.M392L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.A1174T:p.M392L;ENSG00000166960:ENST00000402325:exon10:c.A1174T:p.M392L;ENSG00000166960:ENST00000583930:exon11:c.A1174T:p.M392L;ENSG00000166960:ENST00000383096:exon12:c.A1174T:p.M392L;ENSG00000166960:ENST00000300227:exon12:c.A1174T:p.M392L;ENSG00000166960:ENST00000403303:exon11:c.A1174T:p.M392L;ENSG00000166960:ENST00000579947:exon12:c.A1174T:p.M392L;	2.35521765914744E-4	0.078
18	30873125	T	C	18	33293161	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.A1174G:p.M392V;CCDC178:NM_198995:exon12:c.A1174G:p.M392V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.A1174G:p.M392V;ENSG00000166960:ENST00000402325:exon10:c.A1174G:p.M392V;ENSG00000166960:ENST00000583930:exon11:c.A1174G:p.M392V;ENSG00000166960:ENST00000383096:exon12:c.A1174G:p.M392V;ENSG00000166960:ENST00000300227:exon12:c.A1174G:p.M392V;ENSG00000166960:ENST00000403303:exon11:c.A1174G:p.M392V;ENSG00000166960:ENST00000579947:exon12:c.A1174G:p.M392V;	7.75710112527365E-5	0.004
18	30873125	T	G	18	33293161	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.A1174C:p.M392L;CCDC178:NM_198995:exon12:c.A1174C:p.M392L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.A1174C:p.M392L;ENSG00000166960:ENST00000402325:exon10:c.A1174C:p.M392L;ENSG00000166960:ENST00000583930:exon11:c.A1174C:p.M392L;ENSG00000166960:ENST00000383096:exon12:c.A1174C:p.M392L;ENSG00000166960:ENST00000300227:exon12:c.A1174C:p.M392L;ENSG00000166960:ENST00000403303:exon11:c.A1174C:p.M392L;ENSG00000166960:ENST00000579947:exon12:c.A1174C:p.M392L;	3.72251727495912E-5	0.002
18	30873275	T	A	18	33293311	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon11:c.A1024T:p.R342X;CCDC178:NM_198995:exon12:c.A1024T:p.R342X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon10:c.A1024T:p.R342X;ENSG00000166960:ENST00000402325:exon10:c.A1024T:p.R342X;ENSG00000166960:ENST00000583930:exon11:c.A1024T:p.R342X;ENSG00000166960:ENST00000383096:exon12:c.A1024T:p.R342X;ENSG00000166960:ENST00000300227:exon12:c.A1024T:p.R342X;ENSG00000166960:ENST00000403303:exon11:c.A1024T:p.R342X;ENSG00000166960:ENST00000579947:exon12:c.A1024T:p.R342X;	0.617717426833985	0.734
18	30873275	T	C	18	33293311	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.A1024G:p.R342G;CCDC178:NM_198995:exon12:c.A1024G:p.R342G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.A1024G:p.R342G;ENSG00000166960:ENST00000402325:exon10:c.A1024G:p.R342G;ENSG00000166960:ENST00000583930:exon11:c.A1024G:p.R342G;ENSG00000166960:ENST00000383096:exon12:c.A1024G:p.R342G;ENSG00000166960:ENST00000300227:exon12:c.A1024G:p.R342G;ENSG00000166960:ENST00000403303:exon11:c.A1024G:p.R342G;ENSG00000166960:ENST00000579947:exon12:c.A1024G:p.R342G;	0.00960892225308367	0.044
18	30873275	T	G	18	33293311	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon11:c.A1024C:p.R342R;CCDC178:NM_198995:exon12:c.A1024C:p.R342R;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.A1024C:p.R342R;ENSG00000166960:ENST00000402325:exon10:c.A1024C:p.R342R;ENSG00000166960:ENST00000583930:exon11:c.A1024C:p.R342R;ENSG00000166960:ENST00000383096:exon12:c.A1024C:p.R342R;ENSG00000166960:ENST00000300227:exon12:c.A1024C:p.R342R;ENSG00000166960:ENST00000403303:exon11:c.A1024C:p.R342R;ENSG00000166960:ENST00000579947:exon12:c.A1024C:p.R342R;	0.00410993534166294	0.04
18	30873276	C	A	18	33293312	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.G1023T:p.K341N;CCDC178:NM_198995:exon12:c.G1023T:p.K341N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.G1023T:p.K341N;ENSG00000166960:ENST00000402325:exon10:c.G1023T:p.K341N;ENSG00000166960:ENST00000583930:exon11:c.G1023T:p.K341N;ENSG00000166960:ENST00000383096:exon12:c.G1023T:p.K341N;ENSG00000166960:ENST00000300227:exon12:c.G1023T:p.K341N;ENSG00000166960:ENST00000403303:exon11:c.G1023T:p.K341N;ENSG00000166960:ENST00000579947:exon12:c.G1023T:p.K341N;	0.993275952112079	0.926
18	30873276	C	G	18	33293312	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon11:c.G1023C:p.K341N;CCDC178:NM_198995:exon12:c.G1023C:p.K341N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.G1023C:p.K341N;ENSG00000166960:ENST00000402325:exon10:c.G1023C:p.K341N;ENSG00000166960:ENST00000583930:exon11:c.G1023C:p.K341N;ENSG00000166960:ENST00000383096:exon12:c.G1023C:p.K341N;ENSG00000166960:ENST00000300227:exon12:c.G1023C:p.K341N;ENSG00000166960:ENST00000403303:exon11:c.G1023C:p.K341N;ENSG00000166960:ENST00000579947:exon12:c.G1023C:p.K341N;	0.972326932124724	0.922
18	30873276	C	T	18	33293312	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon11:c.G1023A:p.K341K;CCDC178:NM_198995:exon12:c.G1023A:p.K341K;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon10:c.G1023A:p.K341K;ENSG00000166960:ENST00000402325:exon10:c.G1023A:p.K341K;ENSG00000166960:ENST00000583930:exon11:c.G1023A:p.K341K;ENSG00000166960:ENST00000383096:exon12:c.G1023A:p.K341K;ENSG00000166960:ENST00000300227:exon12:c.G1023A:p.K341K;ENSG00000166960:ENST00000403303:exon11:c.G1023A:p.K341K;ENSG00000166960:ENST00000579947:exon12:c.G1023A:p.K341K;	0.0334437846641185	0.296
18	30873277	C	A	18	33293313	y	y	splicing	CCDC178(NM_001105528:exon12:c.1023-1G>T;NM_198995:exon13:c.1023-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1023-1G>T;ENST00000383096:exon13:c.1023-1G>T;ENST00000300227:exon13:c.1023-1G>T;ENST00000406524:exon11:c.1023-1G>T;ENST00000583930:exon12:c.1023-1G>T;ENST00000402325:exon11:c.1023-1G>T;ENST00000579947:exon13:c.1023-1G>T)	.	.	0.999972155025474	0.86
18	30873277	C	G	18	33293313	y	y	splicing	CCDC178(NM_001105528:exon12:c.1023-1G>C;NM_198995:exon13:c.1023-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1023-1G>C;ENST00000383096:exon13:c.1023-1G>C;ENST00000300227:exon13:c.1023-1G>C;ENST00000406524:exon11:c.1023-1G>C;ENST00000583930:exon12:c.1023-1G>C;ENST00000402325:exon11:c.1023-1G>C;ENST00000579947:exon13:c.1023-1G>C)	.	.	0.999969255906173	0.844
18	30873277	C	T	18	33293313	y	y	splicing	CCDC178(NM_001105528:exon12:c.1023-1G>A;NM_198995:exon13:c.1023-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1023-1G>A;ENST00000383096:exon13:c.1023-1G>A;ENST00000300227:exon13:c.1023-1G>A;ENST00000406524:exon11:c.1023-1G>A;ENST00000583930:exon12:c.1023-1G>A;ENST00000402325:exon11:c.1023-1G>A;ENST00000579947:exon13:c.1023-1G>A)	.	.	0.999972871252391	0.862
18	30873278	T	A	18	33293314	y	y	splicing	CCDC178(NM_001105528:exon12:c.1023-2A>T;NM_198995:exon13:c.1023-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1023-2A>T;ENST00000383096:exon13:c.1023-2A>T;ENST00000300227:exon13:c.1023-2A>T;ENST00000406524:exon11:c.1023-2A>T;ENST00000583930:exon12:c.1023-2A>T;ENST00000402325:exon11:c.1023-2A>T;ENST00000579947:exon13:c.1023-2A>T)	.	.	0.999990611969007	0.874
18	30873278	T	C	18	33293314	y	y	splicing	CCDC178(NM_001105528:exon12:c.1023-2A>G;NM_198995:exon13:c.1023-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1023-2A>G;ENST00000383096:exon13:c.1023-2A>G;ENST00000300227:exon13:c.1023-2A>G;ENST00000406524:exon11:c.1023-2A>G;ENST00000583930:exon12:c.1023-2A>G;ENST00000402325:exon11:c.1023-2A>G;ENST00000579947:exon13:c.1023-2A>G)	.	.	0.999985353572514	0.854
18	30873278	T	G	18	33293314	y	y	splicing	CCDC178(NM_001105528:exon12:c.1023-2A>C;NM_198995:exon13:c.1023-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon12:c.1023-2A>C;ENST00000383096:exon13:c.1023-2A>C;ENST00000300227:exon13:c.1023-2A>C;ENST00000406524:exon11:c.1023-2A>C;ENST00000583930:exon12:c.1023-2A>C;ENST00000402325:exon11:c.1023-2A>C;ENST00000579947:exon13:c.1023-2A>C)	.	.	0.999985353572514	0.848
18	30873279	A	C	18	33293315	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.467870399967819	0.612
18	30873279	A	G	18	33293315	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.62226170411595E-5	0.1
18	30873279	A	T	18	33293315	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0266877198424549	0.28
18	30873280	G	A	18	33293316	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.35925159621262E-5	0.0
18	30873280	G	C	18	33293316	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.49773361416254E-5	0.0
18	30873280	G	T	18	33293316	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.25471288895513E-5	0.006
18	30873281	G	A	18	33293317	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.54963435796272E-4	0.022
18	30873281	G	C	18	33293317	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.123604165452275	0.33
18	30873281	G	T	18	33293317	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0155788656340722	0.288
18	30873282	G	A	18	33293318	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.68936427654185E-5	0.33
18	30873282	G	C	18	33293318	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0017246655928218	0.218
18	30873282	G	T	18	33293318	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.15959690890009E-4	0.188
18	30873283	A	C	18	33293319	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.989376924878147	0.944
18	30873283	A	G	18	33293319	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.23249495316477E-5	0.0
18	30873283	A	T	18	33293319	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.5371883380225E-4	0.03
18	30873284	T	A	18	33293320	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.08332002171532E-5	0.0
18	30873284	T	C	18	33293320	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.17246496461593E-5	0.0
18	30873284	T	G	18	33293320	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.84793885955681E-5	0.004
18	30873285	A	C	18	33293321	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0334784343341005	0.224
18	30873285	A	G	18	33293321	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00384733296425948	0.054
18	30873285	A	T	18	33293321	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0536484405814589	0.204
18	30873286	A	C	18	33293322	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.109657273005936	0.348
18	30873286	A	G	18	33293322	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.21399673595343E-4	0.024
18	30873286	A	T	18	33293322	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0969628250339717	0.316
18	30873287	A	C	18	33293323	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.580045494909298	0.506
18	30873287	A	G	18	33293323	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.158893589725868	0.218
18	30873287	A	T	18	33293323	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.443842904007979	0.5
18	30873288	A	C	18	33293324	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0724674642302781	0.296
18	30873288	A	G	18	33293324	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.0667880641072E-4	0.064
18	30873288	A	T	18	33293324	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0218709110701657	0.286
18	30903447	A	C	18	33323483	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.16379626770163E-4	0.058
18	30903447	A	G	18	33323483	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.75820910427118E-4	0.026
18	30903447	A	T	18	33323483	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.75862477613602E-4	0.01
18	30903448	T	A	18	33323484	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00172337590395564	0.012
18	30903448	T	C	18	33323484	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.60988567905881E-4	0.0
18	30903448	T	G	18	33323484	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.54640617138375E-4	0.0
18	30903449	T	A	18	33323485	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.71949410837077E-4	0.022
18	30903449	T	C	18	33323485	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.70760980925349E-4	0.01
18	30903449	T	G	18	33323485	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00167555495283328	0.082
18	30903450	C	A	18	33323486	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999973303779721	0.976
18	30903450	C	G	18	33323486	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999208375589123	0.88
18	30903450	C	T	18	33323486	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999769103967017	0.958
18	30903451	T	A	18	33323487	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998633993168265	0.904
18	30903451	T	C	18	33323487	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.99837564160834	0.916
18	30903451	T	G	18	33323487	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.987035421172762	0.848
18	30903452	T	A	18	33323488	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999826531531212	0.984
18	30903452	T	C	18	33323488	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.959106077734088	0.642
18	30903452	T	G	18	33323488	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999826531531212	0.904
18	30903453	A	C	18	33323489	y	y	splicing	CCDC178(NM_001105528:exon11:c.1022+2T>G;NM_198995:exon12:c.1022+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.1022+2T>G;ENST00000383096:exon12:c.1022+2T>G;ENST00000300227:exon12:c.1022+2T>G;ENST00000406524:exon10:c.1022+2T>G;ENST00000583930:exon11:c.1022+2T>G;ENST00000402325:exon10:c.1022+2T>G;ENST00000579947:exon12:c.1022+2T>G)	.	.	0.999989917668626	0.926
18	30903453	A	G	18	33323489	y	y	splicing	CCDC178(NM_001105528:exon11:c.1022+2T>C;NM_198995:exon12:c.1022+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.1022+2T>C;ENST00000383096:exon12:c.1022+2T>C;ENST00000300227:exon12:c.1022+2T>C;ENST00000406524:exon10:c.1022+2T>C;ENST00000583930:exon11:c.1022+2T>C;ENST00000402325:exon10:c.1022+2T>C;ENST00000579947:exon12:c.1022+2T>C)	.	.	0.99580463867012	0.66
18	30903453	A	T	18	33323489	y	y	splicing	CCDC178(NM_001105528:exon11:c.1022+2T>A;NM_198995:exon12:c.1022+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.1022+2T>A;ENST00000383096:exon12:c.1022+2T>A;ENST00000300227:exon12:c.1022+2T>A;ENST00000406524:exon10:c.1022+2T>A;ENST00000583930:exon11:c.1022+2T>A;ENST00000402325:exon10:c.1022+2T>A;ENST00000579947:exon12:c.1022+2T>A)	.	.	0.999989917668626	0.926
18	30903454	C	A	18	33323490	y	y	splicing	CCDC178(NM_001105528:exon11:c.1022+1G>T;NM_198995:exon12:c.1022+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.1022+1G>T;ENST00000383096:exon12:c.1022+1G>T;ENST00000300227:exon12:c.1022+1G>T;ENST00000406524:exon10:c.1022+1G>T;ENST00000583930:exon11:c.1022+1G>T;ENST00000402325:exon10:c.1022+1G>T;ENST00000579947:exon12:c.1022+1G>T)	.	.	0.999981760802075	0.944
18	30903454	C	G	18	33323490	y	y	splicing	CCDC178(NM_001105528:exon11:c.1022+1G>C;NM_198995:exon12:c.1022+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.1022+1G>C;ENST00000383096:exon12:c.1022+1G>C;ENST00000300227:exon12:c.1022+1G>C;ENST00000406524:exon10:c.1022+1G>C;ENST00000583930:exon11:c.1022+1G>C;ENST00000402325:exon10:c.1022+1G>C;ENST00000579947:exon12:c.1022+1G>C)	.	.	0.999981760802075	0.944
18	30903454	C	T	18	33323490	y	y	splicing	CCDC178(NM_001105528:exon11:c.1022+1G>A;NM_198995:exon12:c.1022+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.1022+1G>A;ENST00000383096:exon12:c.1022+1G>A;ENST00000300227:exon12:c.1022+1G>A;ENST00000406524:exon10:c.1022+1G>A;ENST00000583930:exon11:c.1022+1G>A;ENST00000402325:exon10:c.1022+1G>A;ENST00000579947:exon12:c.1022+1G>A)	.	.	0.999981760802075	0.944
18	30903455	T	A	18	33323491	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.A1022T:p.K341M;CCDC178:NM_198995:exon11:c.A1022T:p.K341M;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.A1022T:p.K341M;ENSG00000166960:ENST00000402325:exon9:c.A1022T:p.K341M;ENSG00000166960:ENST00000583930:exon10:c.A1022T:p.K341M;ENSG00000166960:ENST00000383096:exon11:c.A1022T:p.K341M;ENSG00000166960:ENST00000300227:exon11:c.A1022T:p.K341M;ENSG00000166960:ENST00000403303:exon10:c.A1022T:p.K341M;ENSG00000166960:ENST00000579947:exon11:c.A1022T:p.K341M;	0.00253427443150709	0.048
18	30903455	T	C	18	33323491	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.A1022G:p.K341R;CCDC178:NM_198995:exon11:c.A1022G:p.K341R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.A1022G:p.K341R;ENSG00000166960:ENST00000402325:exon9:c.A1022G:p.K341R;ENSG00000166960:ENST00000583930:exon10:c.A1022G:p.K341R;ENSG00000166960:ENST00000383096:exon11:c.A1022G:p.K341R;ENSG00000166960:ENST00000300227:exon11:c.A1022G:p.K341R;ENSG00000166960:ENST00000403303:exon10:c.A1022G:p.K341R;ENSG00000166960:ENST00000579947:exon11:c.A1022G:p.K341R;	1.37760285197264E-4	0.016
18	30903455	T	G	18	33323491	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.A1022C:p.K341T;CCDC178:NM_198995:exon11:c.A1022C:p.K341T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.A1022C:p.K341T;ENSG00000166960:ENST00000402325:exon9:c.A1022C:p.K341T;ENSG00000166960:ENST00000583930:exon10:c.A1022C:p.K341T;ENSG00000166960:ENST00000383096:exon11:c.A1022C:p.K341T;ENSG00000166960:ENST00000300227:exon11:c.A1022C:p.K341T;ENSG00000166960:ENST00000403303:exon10:c.A1022C:p.K341T;ENSG00000166960:ENST00000579947:exon11:c.A1022C:p.K341T;	3.4397352128303E-4	0.042
18	30903456	T	A	18	33323492	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon10:c.A1021T:p.K341X;CCDC178:NM_198995:exon11:c.A1021T:p.K341X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon9:c.A1021T:p.K341X;ENSG00000166960:ENST00000402325:exon9:c.A1021T:p.K341X;ENSG00000166960:ENST00000583930:exon10:c.A1021T:p.K341X;ENSG00000166960:ENST00000383096:exon11:c.A1021T:p.K341X;ENSG00000166960:ENST00000300227:exon11:c.A1021T:p.K341X;ENSG00000166960:ENST00000403303:exon10:c.A1021T:p.K341X;ENSG00000166960:ENST00000579947:exon11:c.A1021T:p.K341X;	0.998968092579097	0.796
18	30903456	T	C	18	33323492	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.A1021G:p.K341E;CCDC178:NM_198995:exon11:c.A1021G:p.K341E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.A1021G:p.K341E;ENSG00000166960:ENST00000402325:exon9:c.A1021G:p.K341E;ENSG00000166960:ENST00000583930:exon10:c.A1021G:p.K341E;ENSG00000166960:ENST00000383096:exon11:c.A1021G:p.K341E;ENSG00000166960:ENST00000300227:exon11:c.A1021G:p.K341E;ENSG00000166960:ENST00000403303:exon10:c.A1021G:p.K341E;ENSG00000166960:ENST00000579947:exon11:c.A1021G:p.K341E;	0.566911445524915	0.504
18	30903456	T	G	18	33323492	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.A1021C:p.K341Q;CCDC178:NM_198995:exon11:c.A1021C:p.K341Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.A1021C:p.K341Q;ENSG00000166960:ENST00000402325:exon9:c.A1021C:p.K341Q;ENSG00000166960:ENST00000583930:exon10:c.A1021C:p.K341Q;ENSG00000166960:ENST00000383096:exon11:c.A1021C:p.K341Q;ENSG00000166960:ENST00000300227:exon11:c.A1021C:p.K341Q;ENSG00000166960:ENST00000403303:exon10:c.A1021C:p.K341Q;ENSG00000166960:ENST00000579947:exon11:c.A1021C:p.K341Q;	0.623668723228728	0.666
18	30903457	G	A	18	33323493	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon10:c.C1020T:p.Y340Y;CCDC178:NM_198995:exon11:c.C1020T:p.Y340Y;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.C1020T:p.Y340Y;ENSG00000166960:ENST00000402325:exon9:c.C1020T:p.Y340Y;ENSG00000166960:ENST00000583930:exon10:c.C1020T:p.Y340Y;ENSG00000166960:ENST00000383096:exon11:c.C1020T:p.Y340Y;ENSG00000166960:ENST00000300227:exon11:c.C1020T:p.Y340Y;ENSG00000166960:ENST00000403303:exon10:c.C1020T:p.Y340Y;ENSG00000166960:ENST00000579947:exon11:c.C1020T:p.Y340Y;	0.121584253879879	0.52
18	30903457	G	C	18	33323493	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon10:c.C1020G:p.Y340X;CCDC178:NM_198995:exon11:c.C1020G:p.Y340X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon9:c.C1020G:p.Y340X;ENSG00000166960:ENST00000402325:exon9:c.C1020G:p.Y340X;ENSG00000166960:ENST00000583930:exon10:c.C1020G:p.Y340X;ENSG00000166960:ENST00000383096:exon11:c.C1020G:p.Y340X;ENSG00000166960:ENST00000300227:exon11:c.C1020G:p.Y340X;ENSG00000166960:ENST00000403303:exon10:c.C1020G:p.Y340X;ENSG00000166960:ENST00000579947:exon11:c.C1020G:p.Y340X;	0.00611314279340798	0.16
18	30903457	G	T	18	33323493	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon10:c.C1020A:p.Y340X;CCDC178:NM_198995:exon11:c.C1020A:p.Y340X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon9:c.C1020A:p.Y340X;ENSG00000166960:ENST00000402325:exon9:c.C1020A:p.Y340X;ENSG00000166960:ENST00000583930:exon10:c.C1020A:p.Y340X;ENSG00000166960:ENST00000383096:exon11:c.C1020A:p.Y340X;ENSG00000166960:ENST00000300227:exon11:c.C1020A:p.Y340X;ENSG00000166960:ENST00000403303:exon10:c.C1020A:p.Y340X;ENSG00000166960:ENST00000579947:exon11:c.C1020A:p.Y340X;	0.0254001940677986	0.256
18	30903596	A	C	18	33323632	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.T881G:p.V294G;CCDC178:NM_198995:exon11:c.T881G:p.V294G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.T881G:p.V294G;ENSG00000166960:ENST00000402325:exon9:c.T881G:p.V294G;ENSG00000166960:ENST00000583930:exon10:c.T881G:p.V294G;ENSG00000166960:ENST00000383096:exon11:c.T881G:p.V294G;ENSG00000166960:ENST00000300227:exon11:c.T881G:p.V294G;ENSG00000166960:ENST00000403303:exon10:c.T881G:p.V294G;ENSG00000166960:ENST00000579947:exon11:c.T881G:p.V294G;	3.98593037713328E-4	0.016
18	30903596	A	G	18	33323632	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.T881C:p.V294A;CCDC178:NM_198995:exon11:c.T881C:p.V294A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.T881C:p.V294A;ENSG00000166960:ENST00000402325:exon9:c.T881C:p.V294A;ENSG00000166960:ENST00000583930:exon10:c.T881C:p.V294A;ENSG00000166960:ENST00000383096:exon11:c.T881C:p.V294A;ENSG00000166960:ENST00000300227:exon11:c.T881C:p.V294A;ENSG00000166960:ENST00000403303:exon10:c.T881C:p.V294A;ENSG00000166960:ENST00000579947:exon11:c.T881C:p.V294A;	3.54511527599033E-4	0.026
18	30903596	A	T	18	33323632	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.T881A:p.V294E;CCDC178:NM_198995:exon11:c.T881A:p.V294E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.T881A:p.V294E;ENSG00000166960:ENST00000402325:exon9:c.T881A:p.V294E;ENSG00000166960:ENST00000583930:exon10:c.T881A:p.V294E;ENSG00000166960:ENST00000383096:exon11:c.T881A:p.V294E;ENSG00000166960:ENST00000300227:exon11:c.T881A:p.V294E;ENSG00000166960:ENST00000403303:exon10:c.T881A:p.V294E;ENSG00000166960:ENST00000579947:exon11:c.T881A:p.V294E;	1.96326030040748E-4	0.06
18	30903597	C	A	18	33323633	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.G880T:p.V294L;CCDC178:NM_198995:exon11:c.G880T:p.V294L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.G880T:p.V294L;ENSG00000166960:ENST00000402325:exon9:c.G880T:p.V294L;ENSG00000166960:ENST00000583930:exon10:c.G880T:p.V294L;ENSG00000166960:ENST00000383096:exon11:c.G880T:p.V294L;ENSG00000166960:ENST00000300227:exon11:c.G880T:p.V294L;ENSG00000166960:ENST00000403303:exon10:c.G880T:p.V294L;ENSG00000166960:ENST00000579947:exon11:c.G880T:p.V294L;	0.583274641342248	0.452
18	30903597	C	G	18	33323633	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.G880C:p.V294L;CCDC178:NM_198995:exon11:c.G880C:p.V294L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.G880C:p.V294L;ENSG00000166960:ENST00000402325:exon9:c.G880C:p.V294L;ENSG00000166960:ENST00000583930:exon10:c.G880C:p.V294L;ENSG00000166960:ENST00000383096:exon11:c.G880C:p.V294L;ENSG00000166960:ENST00000300227:exon11:c.G880C:p.V294L;ENSG00000166960:ENST00000403303:exon10:c.G880C:p.V294L;ENSG00000166960:ENST00000579947:exon11:c.G880C:p.V294L;	0.0395399131250093	0.392
18	30903597	C	T	18	33323633	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.G880A:p.V294I;CCDC178:NM_198995:exon11:c.G880A:p.V294I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon9:c.G880A:p.V294I;ENSG00000166960:ENST00000402325:exon9:c.G880A:p.V294I;ENSG00000166960:ENST00000583930:exon10:c.G880A:p.V294I;ENSG00000166960:ENST00000383096:exon11:c.G880A:p.V294I;ENSG00000166960:ENST00000300227:exon11:c.G880A:p.V294I;ENSG00000166960:ENST00000403303:exon10:c.G880A:p.V294I;ENSG00000166960:ENST00000579947:exon11:c.G880A:p.V294I;	0.0123312758203911	0.204
18	30903598	C	A	18	33323634	y	y	splicing	CCDC178(NM_001105528:exon11:c.880-1G>T;NM_198995:exon12:c.880-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.880-1G>T;ENST00000383096:exon12:c.880-1G>T;ENST00000300227:exon12:c.880-1G>T;ENST00000406524:exon10:c.880-1G>T;ENST00000583930:exon11:c.880-1G>T;ENST00000402325:exon10:c.880-1G>T;ENST00000579947:exon12:c.880-1G>T)	.	.	0.999955485601963	0.912
18	30903598	C	G	18	33323634	y	y	splicing	CCDC178(NM_001105528:exon11:c.880-1G>C;NM_198995:exon12:c.880-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.880-1G>C;ENST00000383096:exon12:c.880-1G>C;ENST00000300227:exon12:c.880-1G>C;ENST00000406524:exon10:c.880-1G>C;ENST00000583930:exon11:c.880-1G>C;ENST00000402325:exon10:c.880-1G>C;ENST00000579947:exon12:c.880-1G>C)	.	.	0.999955485601963	0.912
18	30903598	C	T	18	33323634	y	y	splicing	CCDC178(NM_001105528:exon11:c.880-1G>A;NM_198995:exon12:c.880-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.880-1G>A;ENST00000383096:exon12:c.880-1G>A;ENST00000300227:exon12:c.880-1G>A;ENST00000406524:exon10:c.880-1G>A;ENST00000583930:exon11:c.880-1G>A;ENST00000402325:exon10:c.880-1G>A;ENST00000579947:exon12:c.880-1G>A)	.	.	0.999943620371814	0.932
18	30903599	T	A	18	33323635	y	y	splicing	CCDC178(NM_001105528:exon11:c.880-2A>T;NM_198995:exon12:c.880-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.880-2A>T;ENST00000383096:exon12:c.880-2A>T;ENST00000300227:exon12:c.880-2A>T;ENST00000406524:exon10:c.880-2A>T;ENST00000583930:exon11:c.880-2A>T;ENST00000402325:exon10:c.880-2A>T;ENST00000579947:exon12:c.880-2A>T)	.	.	0.99997739437695	0.906
18	30903599	T	C	18	33323635	y	y	splicing	CCDC178(NM_001105528:exon11:c.880-2A>G;NM_198995:exon12:c.880-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.880-2A>G;ENST00000383096:exon12:c.880-2A>G;ENST00000300227:exon12:c.880-2A>G;ENST00000406524:exon10:c.880-2A>G;ENST00000583930:exon11:c.880-2A>G;ENST00000402325:exon10:c.880-2A>G;ENST00000579947:exon12:c.880-2A>G)	.	.	0.999982151912279	0.89
18	30903599	T	G	18	33323635	y	y	splicing	CCDC178(NM_001105528:exon11:c.880-2A>C;NM_198995:exon12:c.880-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon11:c.880-2A>C;ENST00000383096:exon12:c.880-2A>C;ENST00000300227:exon12:c.880-2A>C;ENST00000406524:exon10:c.880-2A>C;ENST00000583930:exon11:c.880-2A>C;ENST00000402325:exon10:c.880-2A>C;ENST00000579947:exon12:c.880-2A>C)	.	.	0.999982151912279	0.892
18	30903600	A	C	18	33323636	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.977516919022345	0.64
18	30903600	A	G	18	33323636	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.34238112551388E-4	0.048
18	30903600	A	T	18	33323636	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00364821348208583	0.16
18	30903601	G	A	18	33323637	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.13545327611362E-5	0.006
18	30903601	G	C	18	33323637	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.01120971202535E-5	0.008
18	30903601	G	T	18	33323637	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.51879255984629E-5	0.006
18	30903602	A	C	18	33323638	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.578047991086854	0.348
18	30903602	A	G	18	33323638	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.22349909524513E-4	0.008
18	30903602	A	T	18	33323638	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.426044967397619	0.358
18	30903603	A	C	18	33323639	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.068633184887966	0.302
18	30903603	A	G	18	33323639	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.78654922613986E-5	0.004
18	30903603	A	T	18	33323639	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.02686109266752	0.234
18	30903604	A	C	18	33323640	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.958815193519911	0.916
18	30903604	A	G	18	33323640	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.40146811266592E-5	0.0
18	30903604	A	T	18	33323640	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00226397533850487	0.038
18	30903605	T	A	18	33323641	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.6822908548668E-5	0.004
18	30903605	T	C	18	33323641	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.81104709051921E-5	0.0
18	30903605	T	G	18	33323641	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.76268895404754E-5	0.0
18	30903606	G	A	18	33323642	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.69346471072253E-5	0.048
18	30903606	G	C	18	33323642	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.14164776559132E-4	0.262
18	30903606	G	T	18	33323642	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.79523911769096E-5	0.014
18	30903607	A	C	18	33323643	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.054803634859867	0.256
18	30903607	A	G	18	33323643	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.62186013957994E-4	0.018
18	30903607	A	T	18	33323643	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.107623443974175	0.266
18	30903608	A	C	18	33323644	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.321444550478507	0.434
18	30903608	A	G	18	33323644	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00410666243419007	0.17
18	30903608	A	T	18	33323644	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.383141549065712	0.422
18	30903609	A	C	18	33323645	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0267178598535135	0.43
18	30903609	A	G	18	33323645	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.41026488404756E-4	0.002
18	30903609	A	T	18	33323645	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.034509185730812	0.438
18	30913130	T	A	18	33333166	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.95044313715036E-5	0.002
18	30913130	T	C	18	33333166	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.21694106799421E-6	0.0
18	30913130	T	G	18	33333166	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.42033278018275E-6	0.0
18	30913131	T	A	18	33333167	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.97141226076467E-5	0.004
18	30913131	T	C	18	33333167	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.94892635218367E-5	0.0
18	30913131	T	G	18	33333167	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.50896685644909E-5	0.0
18	30913132	A	C	18	33333168	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.08797586907369E-4	0.096
18	30913132	A	G	18	33333168	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0213245819601474	0.144
18	30913132	A	T	18	33333168	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0282991714478229	0.104
18	30913133	T	A	18	33333169	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.58664190489883E-5	0.006
18	30913133	T	C	18	33333169	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.65273810999719E-5	0.078
18	30913133	T	G	18	33333169	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.5865877242531E-5	0.018
18	30913134	T	A	18	33333170	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.394469920279324	0.506
18	30913134	T	C	18	33333170	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.51228331001923	0.542
18	30913134	T	G	18	33333170	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.469708650522978	0.482
18	30913135	T	A	18	33333171	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999210550535323	0.776
18	30913135	T	C	18	33333171	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.861883009359288	0.568
18	30913135	T	G	18	33333171	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999789291079182	0.864
18	30913136	A	C	18	33333172	y	y	splicing	CCDC178(NM_001105528:exon10:c.879+2T>G;NM_198995:exon11:c.879+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.879+2T>G;ENST00000383096:exon11:c.879+2T>G;ENST00000300227:exon11:c.879+2T>G;ENST00000406524:exon9:c.879+2T>G;ENST00000583930:exon10:c.879+2T>G;ENST00000402325:exon9:c.879+2T>G;ENST00000579947:exon11:c.879+2T>G)	.	.	0.999962958601995	0.798
18	30913136	A	G	18	33333172	y	y	splicing	CCDC178(NM_001105528:exon10:c.879+2T>C;NM_198995:exon11:c.879+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.879+2T>C;ENST00000383096:exon11:c.879+2T>C;ENST00000300227:exon11:c.879+2T>C;ENST00000406524:exon9:c.879+2T>C;ENST00000583930:exon10:c.879+2T>C;ENST00000402325:exon9:c.879+2T>C;ENST00000579947:exon11:c.879+2T>C)	.	.	0.897900512205031	0.55
18	30913136	A	T	18	33333172	y	y	splicing	CCDC178(NM_001105528:exon10:c.879+2T>A;NM_198995:exon11:c.879+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.879+2T>A;ENST00000383096:exon11:c.879+2T>A;ENST00000300227:exon11:c.879+2T>A;ENST00000406524:exon9:c.879+2T>A;ENST00000583930:exon10:c.879+2T>A;ENST00000402325:exon9:c.879+2T>A;ENST00000579947:exon11:c.879+2T>A)	.	.	0.999969255906173	0.844
18	30913137	C	A	18	33333173	y	y	splicing	CCDC178(NM_001105528:exon10:c.879+1G>T;NM_198995:exon11:c.879+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.879+1G>T;ENST00000383096:exon11:c.879+1G>T;ENST00000300227:exon11:c.879+1G>T;ENST00000406524:exon9:c.879+1G>T;ENST00000583930:exon10:c.879+1G>T;ENST00000402325:exon9:c.879+1G>T;ENST00000579947:exon11:c.879+1G>T)	.	.	0.999958003653399	0.844
18	30913137	C	G	18	33333173	y	y	splicing	CCDC178(NM_001105528:exon10:c.879+1G>C;NM_198995:exon11:c.879+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.879+1G>C;ENST00000383096:exon11:c.879+1G>C;ENST00000300227:exon11:c.879+1G>C;ENST00000406524:exon9:c.879+1G>C;ENST00000583930:exon10:c.879+1G>C;ENST00000402325:exon9:c.879+1G>C;ENST00000579947:exon11:c.879+1G>C)	.	.	0.999958003653399	0.82
18	30913137	C	T	18	33333173	y	y	splicing	CCDC178(NM_001105528:exon10:c.879+1G>A;NM_198995:exon11:c.879+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.879+1G>A;ENST00000383096:exon11:c.879+1G>A;ENST00000300227:exon11:c.879+1G>A;ENST00000406524:exon9:c.879+1G>A;ENST00000583930:exon10:c.879+1G>A;ENST00000402325:exon9:c.879+1G>A;ENST00000579947:exon11:c.879+1G>A)	.	.	0.999958003653399	0.862
18	30913138	C	A	18	33333174	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.G879T:p.E293D;CCDC178:NM_198995:exon10:c.G879T:p.E293D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.G879T:p.E293D;ENSG00000166960:ENST00000402325:exon8:c.G879T:p.E293D;ENSG00000166960:ENST00000583930:exon9:c.G879T:p.E293D;ENSG00000166960:ENST00000383096:exon10:c.G879T:p.E293D;ENSG00000166960:ENST00000300227:exon10:c.G879T:p.E293D;ENSG00000166960:ENST00000403303:exon9:c.G879T:p.E293D;ENSG00000166960:ENST00000579947:exon10:c.G879T:p.E293D;	0.999899926945661	0.952
18	30913138	C	G	18	33333174	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.G879C:p.E293D;CCDC178:NM_198995:exon10:c.G879C:p.E293D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.G879C:p.E293D;ENSG00000166960:ENST00000402325:exon8:c.G879C:p.E293D;ENSG00000166960:ENST00000583930:exon9:c.G879C:p.E293D;ENSG00000166960:ENST00000383096:exon10:c.G879C:p.E293D;ENSG00000166960:ENST00000300227:exon10:c.G879C:p.E293D;ENSG00000166960:ENST00000403303:exon9:c.G879C:p.E293D;ENSG00000166960:ENST00000579947:exon10:c.G879C:p.E293D;	0.999997127366176	0.978
18	30913138	C	T	18	33333174	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon9:c.G879A:p.E293E;CCDC178:NM_198995:exon10:c.G879A:p.E293E;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.G879A:p.E293E;ENSG00000166960:ENST00000402325:exon8:c.G879A:p.E293E;ENSG00000166960:ENST00000583930:exon9:c.G879A:p.E293E;ENSG00000166960:ENST00000383096:exon10:c.G879A:p.E293E;ENSG00000166960:ENST00000300227:exon10:c.G879A:p.E293E;ENSG00000166960:ENST00000403303:exon9:c.G879A:p.E293E;ENSG00000166960:ENST00000579947:exon10:c.G879A:p.E293E;	0.998648638023264	0.978
18	30913139	T	A	18	33333175	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.A878T:p.E293V;CCDC178:NM_198995:exon10:c.A878T:p.E293V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A878T:p.E293V;ENSG00000166960:ENST00000402325:exon8:c.A878T:p.E293V;ENSG00000166960:ENST00000583930:exon9:c.A878T:p.E293V;ENSG00000166960:ENST00000383096:exon10:c.A878T:p.E293V;ENSG00000166960:ENST00000300227:exon10:c.A878T:p.E293V;ENSG00000166960:ENST00000403303:exon9:c.A878T:p.E293V;ENSG00000166960:ENST00000579947:exon10:c.A878T:p.E293V;	0.88821823536884	0.642
18	30913139	T	C	18	33333175	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.A878G:p.E293G;CCDC178:NM_198995:exon10:c.A878G:p.E293G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A878G:p.E293G;ENSG00000166960:ENST00000402325:exon8:c.A878G:p.E293G;ENSG00000166960:ENST00000583930:exon9:c.A878G:p.E293G;ENSG00000166960:ENST00000383096:exon10:c.A878G:p.E293G;ENSG00000166960:ENST00000300227:exon10:c.A878G:p.E293G;ENSG00000166960:ENST00000403303:exon9:c.A878G:p.E293G;ENSG00000166960:ENST00000579947:exon10:c.A878G:p.E293G;	0.950719700980057	0.62
18	30913139	T	G	18	33333175	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.A878C:p.E293A;CCDC178:NM_198995:exon10:c.A878C:p.E293A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A878C:p.E293A;ENSG00000166960:ENST00000402325:exon8:c.A878C:p.E293A;ENSG00000166960:ENST00000583930:exon9:c.A878C:p.E293A;ENSG00000166960:ENST00000383096:exon10:c.A878C:p.E293A;ENSG00000166960:ENST00000300227:exon10:c.A878C:p.E293A;ENSG00000166960:ENST00000403303:exon9:c.A878C:p.E293A;ENSG00000166960:ENST00000579947:exon10:c.A878C:p.E293A;	0.351807563795969	0.384
18	30913140	C	A	18	33333176	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon9:c.G877T:p.E293X;CCDC178:NM_198995:exon10:c.G877T:p.E293X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon8:c.G877T:p.E293X;ENSG00000166960:ENST00000402325:exon8:c.G877T:p.E293X;ENSG00000166960:ENST00000583930:exon9:c.G877T:p.E293X;ENSG00000166960:ENST00000383096:exon10:c.G877T:p.E293X;ENSG00000166960:ENST00000300227:exon10:c.G877T:p.E293X;ENSG00000166960:ENST00000403303:exon9:c.G877T:p.E293X;ENSG00000166960:ENST00000579947:exon10:c.G877T:p.E293X;	0.00282435136884847	0.126
18	30913140	C	G	18	33333176	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.G877C:p.E293Q;CCDC178:NM_198995:exon10:c.G877C:p.E293Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.G877C:p.E293Q;ENSG00000166960:ENST00000402325:exon8:c.G877C:p.E293Q;ENSG00000166960:ENST00000583930:exon9:c.G877C:p.E293Q;ENSG00000166960:ENST00000383096:exon10:c.G877C:p.E293Q;ENSG00000166960:ENST00000300227:exon10:c.G877C:p.E293Q;ENSG00000166960:ENST00000403303:exon9:c.G877C:p.E293Q;ENSG00000166960:ENST00000579947:exon10:c.G877C:p.E293Q;	3.18563946186225E-5	0.026
18	30913140	C	T	18	33333176	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.G877A:p.E293K;CCDC178:NM_198995:exon10:c.G877A:p.E293K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.G877A:p.E293K;ENSG00000166960:ENST00000402325:exon8:c.G877A:p.E293K;ENSG00000166960:ENST00000583930:exon9:c.G877A:p.E293K;ENSG00000166960:ENST00000383096:exon10:c.G877A:p.E293K;ENSG00000166960:ENST00000300227:exon10:c.G877A:p.E293K;ENSG00000166960:ENST00000403303:exon9:c.G877A:p.E293K;ENSG00000166960:ENST00000579947:exon10:c.G877A:p.E293K;	2.07068860319114E-5	0.014
18	30913357	T	A	18	33333393	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.A660T:p.E220D;CCDC178:NM_198995:exon10:c.A660T:p.E220D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A660T:p.E220D;ENSG00000166960:ENST00000402325:exon8:c.A660T:p.E220D;ENSG00000166960:ENST00000583930:exon9:c.A660T:p.E220D;ENSG00000166960:ENST00000383096:exon10:c.A660T:p.E220D;ENSG00000166960:ENST00000300227:exon10:c.A660T:p.E220D;ENSG00000166960:ENST00000399177:exon9:c.A660T:p.E220D;ENSG00000166960:ENST00000403303:exon9:c.A660T:p.E220D;ENSG00000166960:ENST00000579947:exon10:c.A660T:p.E220D;	1.23631788763313E-4	0.0
18	30913357	T	C	18	33333393	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon9:c.A660G:p.E220E;CCDC178:NM_198995:exon10:c.A660G:p.E220E;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A660G:p.E220E;ENSG00000166960:ENST00000402325:exon8:c.A660G:p.E220E;ENSG00000166960:ENST00000583930:exon9:c.A660G:p.E220E;ENSG00000166960:ENST00000383096:exon10:c.A660G:p.E220E;ENSG00000166960:ENST00000300227:exon10:c.A660G:p.E220E;ENSG00000166960:ENST00000399177:exon9:c.A660G:p.E220E;ENSG00000166960:ENST00000403303:exon9:c.A660G:p.E220E;ENSG00000166960:ENST00000579947:exon10:c.A660G:p.E220E;	1.16257178027019E-4	0.024
18	30913357	T	G	18	33333393	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.A660C:p.E220D;CCDC178:NM_198995:exon10:c.A660C:p.E220D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A660C:p.E220D;ENSG00000166960:ENST00000402325:exon8:c.A660C:p.E220D;ENSG00000166960:ENST00000583930:exon9:c.A660C:p.E220D;ENSG00000166960:ENST00000383096:exon10:c.A660C:p.E220D;ENSG00000166960:ENST00000300227:exon10:c.A660C:p.E220D;ENSG00000166960:ENST00000399177:exon9:c.A660C:p.E220D;ENSG00000166960:ENST00000403303:exon9:c.A660C:p.E220D;ENSG00000166960:ENST00000579947:exon10:c.A660C:p.E220D;	9.44675722748305E-5	0.006
18	30913358	T	A	18	33333394	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.A659T:p.E220V;CCDC178:NM_198995:exon10:c.A659T:p.E220V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A659T:p.E220V;ENSG00000166960:ENST00000402325:exon8:c.A659T:p.E220V;ENSG00000166960:ENST00000583930:exon9:c.A659T:p.E220V;ENSG00000166960:ENST00000383096:exon10:c.A659T:p.E220V;ENSG00000166960:ENST00000300227:exon10:c.A659T:p.E220V;ENSG00000166960:ENST00000399177:exon9:c.A659T:p.E220V;ENSG00000166960:ENST00000403303:exon9:c.A659T:p.E220V;ENSG00000166960:ENST00000579947:exon10:c.A659T:p.E220V;	0.0062344019242969	0.228
18	30913358	T	C	18	33333394	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.A659G:p.E220G;CCDC178:NM_198995:exon10:c.A659G:p.E220G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A659G:p.E220G;ENSG00000166960:ENST00000402325:exon8:c.A659G:p.E220G;ENSG00000166960:ENST00000583930:exon9:c.A659G:p.E220G;ENSG00000166960:ENST00000383096:exon10:c.A659G:p.E220G;ENSG00000166960:ENST00000300227:exon10:c.A659G:p.E220G;ENSG00000166960:ENST00000399177:exon9:c.A659G:p.E220G;ENSG00000166960:ENST00000403303:exon9:c.A659G:p.E220G;ENSG00000166960:ENST00000579947:exon10:c.A659G:p.E220G;	4.37253813893926E-4	0.03
18	30913358	T	G	18	33333394	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon9:c.A659C:p.E220A;CCDC178:NM_198995:exon10:c.A659C:p.E220A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon8:c.A659C:p.E220A;ENSG00000166960:ENST00000402325:exon8:c.A659C:p.E220A;ENSG00000166960:ENST00000583930:exon9:c.A659C:p.E220A;ENSG00000166960:ENST00000383096:exon10:c.A659C:p.E220A;ENSG00000166960:ENST00000300227:exon10:c.A659C:p.E220A;ENSG00000166960:ENST00000399177:exon9:c.A659C:p.E220A;ENSG00000166960:ENST00000403303:exon9:c.A659C:p.E220A;ENSG00000166960:ENST00000579947:exon10:c.A659C:p.E220A;	0.0115810865196615	0.176
18	30913359	C	A	18	33333395	y	y	splicing	CCDC178(NM_001105528:exon10:c.659-1G>T;NM_198995:exon11:c.659-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.659-1G>T;ENST00000383096:exon11:c.659-1G>T;ENST00000300227:exon11:c.659-1G>T;ENST00000406524:exon9:c.659-1G>T;ENST00000583930:exon10:c.659-1G>T;ENST00000402325:exon9:c.659-1G>T;ENST00000579947:exon11:c.659-1G>T;ENST00000399177:exon10:c.659-1G>T)	.	.	0.99996331125795	0.918
18	30913359	C	G	18	33333395	y	y	splicing	CCDC178(NM_001105528:exon10:c.659-1G>C;NM_198995:exon11:c.659-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.659-1G>C;ENST00000383096:exon11:c.659-1G>C;ENST00000300227:exon11:c.659-1G>C;ENST00000406524:exon9:c.659-1G>C;ENST00000583930:exon10:c.659-1G>C;ENST00000402325:exon9:c.659-1G>C;ENST00000579947:exon11:c.659-1G>C;ENST00000399177:exon10:c.659-1G>C)	.	.	0.99996331125795	0.92
18	30913359	C	T	18	33333395	y	y	splicing	CCDC178(NM_001105528:exon10:c.659-1G>A;NM_198995:exon11:c.659-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.659-1G>A;ENST00000383096:exon11:c.659-1G>A;ENST00000300227:exon11:c.659-1G>A;ENST00000406524:exon9:c.659-1G>A;ENST00000583930:exon10:c.659-1G>A;ENST00000402325:exon9:c.659-1G>A;ENST00000579947:exon11:c.659-1G>A;ENST00000399177:exon10:c.659-1G>A)	.	.	0.999953531844942	0.936
18	30913360	T	A	18	33333396	y	y	splicing	CCDC178(NM_001105528:exon10:c.659-2A>T;NM_198995:exon11:c.659-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.659-2A>T;ENST00000383096:exon11:c.659-2A>T;ENST00000300227:exon11:c.659-2A>T;ENST00000406524:exon9:c.659-2A>T;ENST00000583930:exon10:c.659-2A>T;ENST00000402325:exon9:c.659-2A>T;ENST00000579947:exon11:c.659-2A>T;ENST00000399177:exon10:c.659-2A>T)	.	.	0.999960395825381	0.952
18	30913360	T	C	18	33333396	y	y	splicing	CCDC178(NM_001105528:exon10:c.659-2A>G;NM_198995:exon11:c.659-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.659-2A>G;ENST00000383096:exon11:c.659-2A>G;ENST00000300227:exon11:c.659-2A>G;ENST00000406524:exon9:c.659-2A>G;ENST00000583930:exon10:c.659-2A>G;ENST00000402325:exon9:c.659-2A>G;ENST00000579947:exon11:c.659-2A>G;ENST00000399177:exon10:c.659-2A>G)	.	.	0.99996764000787	0.912
18	30913360	T	G	18	33333396	y	y	splicing	CCDC178(NM_001105528:exon10:c.659-2A>C;NM_198995:exon11:c.659-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon10:c.659-2A>C;ENST00000383096:exon11:c.659-2A>C;ENST00000300227:exon11:c.659-2A>C;ENST00000406524:exon9:c.659-2A>C;ENST00000583930:exon10:c.659-2A>C;ENST00000402325:exon9:c.659-2A>C;ENST00000579947:exon11:c.659-2A>C;ENST00000399177:exon10:c.659-2A>C)	.	.	0.99996764000787	0.912
18	30913361	A	C	18	33333397	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.996534000660361	0.706
18	30913361	A	G	18	33333397	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.87614839704581E-4	0.018
18	30913361	A	T	18	33333397	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.246960940043859	0.43
18	30913362	G	A	18	33333398	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.08936598513154E-4	0.014
18	30913362	G	C	18	33333398	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.16011115623958E-4	0.086
18	30913362	G	T	18	33333398	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.44445811978273E-4	0.03
18	30913363	A	C	18	33333399	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999792201765923	0.964
18	30913363	A	G	18	33333399	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00185498682584018	0.172
18	30913363	A	T	18	33333399	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.300854856955933	0.548
18	30913364	T	A	18	33333400	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.15835509807119E-5	0.0
18	30913364	T	C	18	33333400	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.15604466155837E-5	0.004
18	30913364	T	G	18	33333400	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.41038918243644E-5	0.0
18	30913365	A	C	18	33333401	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998408991556304	0.918
18	30913365	A	G	18	33333401	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.56962878759583E-4	0.01
18	30913365	A	T	18	33333401	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00108933972486293	0.098
18	30913366	T	A	18	33333402	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.93584634754879E-5	0.002
18	30913366	T	C	18	33333402	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.48138321757555E-5	0.002
18	30913366	T	G	18	33333402	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.61466333716246E-5	0.008
18	30913367	A	C	18	33333403	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.875150482487218	0.752
18	30913367	A	G	18	33333403	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0136621644132293	0.112
18	30913367	A	T	18	33333403	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.868912466631699	0.694
18	30913368	G	A	18	33333404	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.7376968652649E-5	0.026
18	30913368	G	C	18	33333404	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00115466972884061	0.102
18	30913368	G	T	18	33333404	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00334386122915091	0.088
18	30913369	A	C	18	33333405	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.980314715748906	0.866
18	30913369	A	G	18	33333405	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.179192858077856	0.404
18	30913369	A	T	18	33333405	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998083454666914	0.928
18	30913370	A	C	18	33333406	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.417031337428467	0.608
18	30913370	A	G	18	33333406	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00935915049458008	0.114
18	30913370	A	T	18	33333406	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.510832398049973	0.616
18	30926167	A	C	18	33346203	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.28951653551821E-5	0.0
18	30926167	A	G	18	33346203	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.28951653551821E-5	0.0
18	30926167	A	T	18	33346203	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.28951653551821E-5	0.0
18	30926168	T	A	18	33346204	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.69215715557882E-4	0.062
18	30926168	T	C	18	33346204	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.26238884663446E-4	0.004
18	30926168	T	G	18	33346204	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.89704304997111E-5	0.002
18	30926169	T	A	18	33346205	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.84276175315245E-4	0.016
18	30926169	T	C	18	33346205	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.11966469812252E-4	0.034
18	30926169	T	G	18	33346205	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.84188589805267E-4	0.146
18	30926170	A	C	18	33346206	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.52527501134826E-4	0.074
18	30926170	A	G	18	33346206	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.39769161195209E-4	0.006
18	30926170	A	T	18	33346206	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.36208486900127E-4	0.006
18	30926171	T	A	18	33346207	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.195410630872891	0.424
18	30926171	T	C	18	33346207	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.438692973598223	0.56
18	30926171	T	G	18	33346207	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0849982898850151	0.356
18	30926172	T	A	18	33346208	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.9999419193934	0.958
18	30926172	T	C	18	33346208	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.995400193916724	0.742
18	30926172	T	G	18	33346208	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999888820895433	0.978
18	30926173	A	C	18	33346209	y	y	splicing	CCDC178(NM_001105528:exon9:c.658+2T>G;NM_198995:exon10:c.658+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.658+2T>G;ENST00000383096:exon10:c.658+2T>G;ENST00000300227:exon10:c.658+2T>G;ENST00000406524:exon8:c.658+2T>G;ENST00000583930:exon9:c.658+2T>G;ENST00000402325:exon8:c.658+2T>G;ENST00000579947:exon10:c.658+2T>G;ENST00000399177:exon9:c.658+2T>G)	.	.	0.999946188727699	0.942
18	30926173	A	G	18	33346209	y	y	splicing	CCDC178(NM_001105528:exon9:c.658+2T>C;NM_198995:exon10:c.658+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.658+2T>C;ENST00000383096:exon10:c.658+2T>C;ENST00000300227:exon10:c.658+2T>C;ENST00000406524:exon8:c.658+2T>C;ENST00000583930:exon9:c.658+2T>C;ENST00000402325:exon8:c.658+2T>C;ENST00000579947:exon10:c.658+2T>C;ENST00000399177:exon9:c.658+2T>C)	.	.	0.957281456064751	0.622
18	30926173	A	T	18	33346209	y	y	splicing	CCDC178(NM_001105528:exon9:c.658+2T>A;NM_198995:exon10:c.658+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.658+2T>A;ENST00000383096:exon10:c.658+2T>A;ENST00000300227:exon10:c.658+2T>A;ENST00000406524:exon8:c.658+2T>A;ENST00000583930:exon9:c.658+2T>A;ENST00000402325:exon8:c.658+2T>A;ENST00000579947:exon10:c.658+2T>A;ENST00000399177:exon9:c.658+2T>A)	.	.	0.999946188727699	0.946
18	30926174	C	A	18	33346210	y	y	splicing	CCDC178(NM_001105528:exon9:c.658+1G>T;NM_198995:exon10:c.658+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.658+1G>T;ENST00000383096:exon10:c.658+1G>T;ENST00000300227:exon10:c.658+1G>T;ENST00000406524:exon8:c.658+1G>T;ENST00000583930:exon9:c.658+1G>T;ENST00000402325:exon8:c.658+1G>T;ENST00000579947:exon10:c.658+1G>T;ENST00000399177:exon9:c.658+1G>T)	.	.	0.999938990645747	0.946
18	30926174	C	G	18	33346210	y	y	splicing	CCDC178(NM_001105528:exon9:c.658+1G>C;NM_198995:exon10:c.658+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.658+1G>C;ENST00000383096:exon10:c.658+1G>C;ENST00000300227:exon10:c.658+1G>C;ENST00000406524:exon8:c.658+1G>C;ENST00000583930:exon9:c.658+1G>C;ENST00000402325:exon8:c.658+1G>C;ENST00000579947:exon10:c.658+1G>C;ENST00000399177:exon9:c.658+1G>C)	.	.	0.999938990645747	0.946
18	30926174	C	T	18	33346210	y	y	splicing	CCDC178(NM_001105528:exon9:c.658+1G>A;NM_198995:exon10:c.658+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.658+1G>A;ENST00000383096:exon10:c.658+1G>A;ENST00000300227:exon10:c.658+1G>A;ENST00000406524:exon8:c.658+1G>A;ENST00000583930:exon9:c.658+1G>A;ENST00000402325:exon8:c.658+1G>A;ENST00000579947:exon10:c.658+1G>A;ENST00000399177:exon9:c.658+1G>A)	.	.	0.999938422912956	0.946
18	30926175	C	A	18	33346211	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon8:c.G658T:p.E220X;CCDC178:NM_198995:exon9:c.G658T:p.E220X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon7:c.G658T:p.E220X;ENSG00000166960:ENST00000402325:exon7:c.G658T:p.E220X;ENSG00000166960:ENST00000583930:exon8:c.G658T:p.E220X;ENSG00000166960:ENST00000383096:exon9:c.G658T:p.E220X;ENSG00000166960:ENST00000300227:exon9:c.G658T:p.E220X;ENSG00000166960:ENST00000399177:exon8:c.G658T:p.E220X;ENSG00000166960:ENST00000403303:exon8:c.G658T:p.E220X;ENSG00000166960:ENST00000579947:exon9:c.G658T:p.E220X;	0.999990846406755	0.958
18	30926175	C	G	18	33346211	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.G658C:p.E220Q;CCDC178:NM_198995:exon9:c.G658C:p.E220Q;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.G658C:p.E220Q;ENSG00000166960:ENST00000402325:exon7:c.G658C:p.E220Q;ENSG00000166960:ENST00000583930:exon8:c.G658C:p.E220Q;ENSG00000166960:ENST00000383096:exon9:c.G658C:p.E220Q;ENSG00000166960:ENST00000300227:exon9:c.G658C:p.E220Q;ENSG00000166960:ENST00000399177:exon8:c.G658C:p.E220Q;ENSG00000166960:ENST00000403303:exon8:c.G658C:p.E220Q;ENSG00000166960:ENST00000579947:exon9:c.G658C:p.E220Q;	0.999987758175125	0.968
18	30926175	C	T	18	33346211	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.G658A:p.E220K;CCDC178:NM_198995:exon9:c.G658A:p.E220K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.G658A:p.E220K;ENSG00000166960:ENST00000402325:exon7:c.G658A:p.E220K;ENSG00000166960:ENST00000583930:exon8:c.G658A:p.E220K;ENSG00000166960:ENST00000383096:exon9:c.G658A:p.E220K;ENSG00000166960:ENST00000300227:exon9:c.G658A:p.E220K;ENSG00000166960:ENST00000399177:exon8:c.G658A:p.E220K;ENSG00000166960:ENST00000403303:exon8:c.G658A:p.E220K;ENSG00000166960:ENST00000579947:exon9:c.G658A:p.E220K;	0.999972444688754	0.99
18	30926176	T	A	18	33346212	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.A657T:p.K219N;CCDC178:NM_198995:exon9:c.A657T:p.K219N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A657T:p.K219N;ENSG00000166960:ENST00000402325:exon7:c.A657T:p.K219N;ENSG00000166960:ENST00000583930:exon8:c.A657T:p.K219N;ENSG00000166960:ENST00000383096:exon9:c.A657T:p.K219N;ENSG00000166960:ENST00000300227:exon9:c.A657T:p.K219N;ENSG00000166960:ENST00000399177:exon8:c.A657T:p.K219N;ENSG00000166960:ENST00000403303:exon8:c.A657T:p.K219N;ENSG00000166960:ENST00000579947:exon9:c.A657T:p.K219N;	0.961137521249584	0.674
18	30926176	T	C	18	33346212	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon8:c.A657G:p.K219K;CCDC178:NM_198995:exon9:c.A657G:p.K219K;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A657G:p.K219K;ENSG00000166960:ENST00000402325:exon7:c.A657G:p.K219K;ENSG00000166960:ENST00000583930:exon8:c.A657G:p.K219K;ENSG00000166960:ENST00000383096:exon9:c.A657G:p.K219K;ENSG00000166960:ENST00000300227:exon9:c.A657G:p.K219K;ENSG00000166960:ENST00000399177:exon8:c.A657G:p.K219K;ENSG00000166960:ENST00000403303:exon8:c.A657G:p.K219K;ENSG00000166960:ENST00000579947:exon9:c.A657G:p.K219K;	0.861348333147678	0.686
18	30926176	T	G	18	33346212	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.A657C:p.K219N;CCDC178:NM_198995:exon9:c.A657C:p.K219N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A657C:p.K219N;ENSG00000166960:ENST00000402325:exon7:c.A657C:p.K219N;ENSG00000166960:ENST00000583930:exon8:c.A657C:p.K219N;ENSG00000166960:ENST00000383096:exon9:c.A657C:p.K219N;ENSG00000166960:ENST00000300227:exon9:c.A657C:p.K219N;ENSG00000166960:ENST00000399177:exon8:c.A657C:p.K219N;ENSG00000166960:ENST00000403303:exon8:c.A657C:p.K219N;ENSG00000166960:ENST00000579947:exon9:c.A657C:p.K219N;	0.514539905312347	0.66
18	30926177	T	A	18	33346213	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.A656T:p.K219I;CCDC178:NM_198995:exon9:c.A656T:p.K219I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A656T:p.K219I;ENSG00000166960:ENST00000402325:exon7:c.A656T:p.K219I;ENSG00000166960:ENST00000583930:exon8:c.A656T:p.K219I;ENSG00000166960:ENST00000383096:exon9:c.A656T:p.K219I;ENSG00000166960:ENST00000300227:exon9:c.A656T:p.K219I;ENSG00000166960:ENST00000399177:exon8:c.A656T:p.K219I;ENSG00000166960:ENST00000403303:exon8:c.A656T:p.K219I;ENSG00000166960:ENST00000579947:exon9:c.A656T:p.K219I;	0.00318736592250081	0.184
18	30926177	T	C	18	33346213	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.A656G:p.K219R;CCDC178:NM_198995:exon9:c.A656G:p.K219R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A656G:p.K219R;ENSG00000166960:ENST00000402325:exon7:c.A656G:p.K219R;ENSG00000166960:ENST00000583930:exon8:c.A656G:p.K219R;ENSG00000166960:ENST00000383096:exon9:c.A656G:p.K219R;ENSG00000166960:ENST00000300227:exon9:c.A656G:p.K219R;ENSG00000166960:ENST00000399177:exon8:c.A656G:p.K219R;ENSG00000166960:ENST00000403303:exon8:c.A656G:p.K219R;ENSG00000166960:ENST00000579947:exon9:c.A656G:p.K219R;	2.93209672184262E-4	0.008
18	30926177	T	G	18	33346213	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.A656C:p.K219T;CCDC178:NM_198995:exon9:c.A656C:p.K219T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A656C:p.K219T;ENSG00000166960:ENST00000402325:exon7:c.A656C:p.K219T;ENSG00000166960:ENST00000583930:exon8:c.A656C:p.K219T;ENSG00000166960:ENST00000383096:exon9:c.A656C:p.K219T;ENSG00000166960:ENST00000300227:exon9:c.A656C:p.K219T;ENSG00000166960:ENST00000399177:exon8:c.A656C:p.K219T;ENSG00000166960:ENST00000403303:exon8:c.A656C:p.K219T;ENSG00000166960:ENST00000579947:exon9:c.A656C:p.K219T;	1.77969698868862E-5	0.0
18	30926374	A	C	18	33346410	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.T459G:p.D153E;CCDC178:NM_198995:exon9:c.T459G:p.D153E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.T459G:p.D153E;ENSG00000166960:ENST00000402325:exon7:c.T459G:p.D153E;ENSG00000166960:ENST00000583930:exon8:c.T459G:p.D153E;ENSG00000166960:ENST00000383096:exon9:c.T459G:p.D153E;ENSG00000166960:ENST00000300227:exon9:c.T459G:p.D153E;ENSG00000166960:ENST00000399177:exon8:c.T459G:p.D153E;ENSG00000166960:ENST00000403303:exon8:c.T459G:p.D153E;ENSG00000166960:ENST00000579947:exon9:c.T459G:p.D153E;	0.00196339675157492	0.082
18	30926374	A	G	18	33346410	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon8:c.T459C:p.D153D;CCDC178:NM_198995:exon9:c.T459C:p.D153D;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.T459C:p.D153D;ENSG00000166960:ENST00000402325:exon7:c.T459C:p.D153D;ENSG00000166960:ENST00000583930:exon8:c.T459C:p.D153D;ENSG00000166960:ENST00000383096:exon9:c.T459C:p.D153D;ENSG00000166960:ENST00000300227:exon9:c.T459C:p.D153D;ENSG00000166960:ENST00000399177:exon8:c.T459C:p.D153D;ENSG00000166960:ENST00000403303:exon8:c.T459C:p.D153D;ENSG00000166960:ENST00000579947:exon9:c.T459C:p.D153D;	0.00399561519957216	0.104
18	30926374	A	T	18	33346410	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.T459A:p.D153E;CCDC178:NM_198995:exon9:c.T459A:p.D153E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.T459A:p.D153E;ENSG00000166960:ENST00000402325:exon7:c.T459A:p.D153E;ENSG00000166960:ENST00000583930:exon8:c.T459A:p.D153E;ENSG00000166960:ENST00000383096:exon9:c.T459A:p.D153E;ENSG00000166960:ENST00000300227:exon9:c.T459A:p.D153E;ENSG00000166960:ENST00000399177:exon8:c.T459A:p.D153E;ENSG00000166960:ENST00000403303:exon8:c.T459A:p.D153E;ENSG00000166960:ENST00000579947:exon9:c.T459A:p.D153E;	0.00760900764118887	0.102
18	30926375	T	A	18	33346411	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.A458T:p.D153V;CCDC178:NM_198995:exon9:c.A458T:p.D153V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A458T:p.D153V;ENSG00000166960:ENST00000402325:exon7:c.A458T:p.D153V;ENSG00000166960:ENST00000583930:exon8:c.A458T:p.D153V;ENSG00000166960:ENST00000383096:exon9:c.A458T:p.D153V;ENSG00000166960:ENST00000300227:exon9:c.A458T:p.D153V;ENSG00000166960:ENST00000399177:exon8:c.A458T:p.D153V;ENSG00000166960:ENST00000403303:exon8:c.A458T:p.D153V;ENSG00000166960:ENST00000579947:exon9:c.A458T:p.D153V;	5.50564476803382E-4	0.09
18	30926375	T	C	18	33346411	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.A458G:p.D153G;CCDC178:NM_198995:exon9:c.A458G:p.D153G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A458G:p.D153G;ENSG00000166960:ENST00000402325:exon7:c.A458G:p.D153G;ENSG00000166960:ENST00000583930:exon8:c.A458G:p.D153G;ENSG00000166960:ENST00000383096:exon9:c.A458G:p.D153G;ENSG00000166960:ENST00000300227:exon9:c.A458G:p.D153G;ENSG00000166960:ENST00000399177:exon8:c.A458G:p.D153G;ENSG00000166960:ENST00000403303:exon8:c.A458G:p.D153G;ENSG00000166960:ENST00000579947:exon9:c.A458G:p.D153G;	5.79452201472186E-5	0.0
18	30926375	T	G	18	33346411	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon8:c.A458C:p.D153A;CCDC178:NM_198995:exon9:c.A458C:p.D153A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon7:c.A458C:p.D153A;ENSG00000166960:ENST00000402325:exon7:c.A458C:p.D153A;ENSG00000166960:ENST00000583930:exon8:c.A458C:p.D153A;ENSG00000166960:ENST00000383096:exon9:c.A458C:p.D153A;ENSG00000166960:ENST00000300227:exon9:c.A458C:p.D153A;ENSG00000166960:ENST00000399177:exon8:c.A458C:p.D153A;ENSG00000166960:ENST00000403303:exon8:c.A458C:p.D153A;ENSG00000166960:ENST00000579947:exon9:c.A458C:p.D153A;	0.00116346851742857	0.086
18	30926376	C	A	18	33346412	y	y	splicing	CCDC178(NM_001105528:exon9:c.458-1G>T;NM_198995:exon10:c.458-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.458-1G>T;ENST00000383096:exon10:c.458-1G>T;ENST00000300227:exon10:c.458-1G>T;ENST00000406524:exon8:c.458-1G>T;ENST00000583930:exon9:c.458-1G>T;ENST00000402325:exon8:c.458-1G>T;ENST00000579947:exon10:c.458-1G>T;ENST00000399177:exon9:c.458-1G>T)	.	.	0.999943258875676	0.782
18	30926376	C	G	18	33346412	y	y	splicing	CCDC178(NM_001105528:exon9:c.458-1G>C;NM_198995:exon10:c.458-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.458-1G>C;ENST00000383096:exon10:c.458-1G>C;ENST00000300227:exon10:c.458-1G>C;ENST00000406524:exon8:c.458-1G>C;ENST00000583930:exon9:c.458-1G>C;ENST00000402325:exon8:c.458-1G>C;ENST00000579947:exon10:c.458-1G>C;ENST00000399177:exon9:c.458-1G>C)	.	.	0.999946273697791	0.782
18	30926376	C	T	18	33346412	y	y	splicing	CCDC178(NM_001105528:exon9:c.458-1G>A;NM_198995:exon10:c.458-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.458-1G>A;ENST00000383096:exon10:c.458-1G>A;ENST00000300227:exon10:c.458-1G>A;ENST00000406524:exon8:c.458-1G>A;ENST00000583930:exon9:c.458-1G>A;ENST00000402325:exon8:c.458-1G>A;ENST00000579947:exon10:c.458-1G>A;ENST00000399177:exon9:c.458-1G>A)	.	.	0.999943258875676	0.778
18	30926377	T	A	18	33346413	y	y	splicing	CCDC178(NM_001105528:exon9:c.458-2A>T;NM_198995:exon10:c.458-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.458-2A>T;ENST00000383096:exon10:c.458-2A>T;ENST00000300227:exon10:c.458-2A>T;ENST00000406524:exon8:c.458-2A>T;ENST00000583930:exon9:c.458-2A>T;ENST00000402325:exon8:c.458-2A>T;ENST00000579947:exon10:c.458-2A>T;ENST00000399177:exon9:c.458-2A>T)	.	.	0.999970890420065	0.816
18	30926377	T	C	18	33346413	y	y	splicing	CCDC178(NM_001105528:exon9:c.458-2A>G;NM_198995:exon10:c.458-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.458-2A>G;ENST00000383096:exon10:c.458-2A>G;ENST00000300227:exon10:c.458-2A>G;ENST00000406524:exon8:c.458-2A>G;ENST00000583930:exon9:c.458-2A>G;ENST00000402325:exon8:c.458-2A>G;ENST00000579947:exon10:c.458-2A>G;ENST00000399177:exon9:c.458-2A>G)	.	.	0.999984483665306	0.792
18	30926377	T	G	18	33346413	y	y	splicing	CCDC178(NM_001105528:exon9:c.458-2A>C;NM_198995:exon10:c.458-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon9:c.458-2A>C;ENST00000383096:exon10:c.458-2A>C;ENST00000300227:exon10:c.458-2A>C;ENST00000406524:exon8:c.458-2A>C;ENST00000583930:exon9:c.458-2A>C;ENST00000402325:exon8:c.458-2A>C;ENST00000579947:exon10:c.458-2A>C;ENST00000399177:exon9:c.458-2A>C)	.	.	0.999984483665306	0.796
18	30926378	T	A	18	33346414	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.04293082719317E-4	0.032
18	30926378	T	C	18	33346414	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.119476457556974	0.412
18	30926378	T	G	18	33346414	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.1211538662901E-4	0.134
18	30926379	A	C	18	33346415	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00658996956474739	0.108
18	30926379	A	G	18	33346415	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00178193191145522	0.07
18	30926379	A	T	18	33346415	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00250431314124027	0.076
18	30926380	A	C	18	33346416	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.992445361304784	0.684
18	30926380	A	G	18	33346416	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0443605916889194	0.25
18	30926380	A	T	18	33346416	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.992445361304784	0.692
18	30926381	A	C	18	33346417	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0675353808504714	0.46
18	30926381	A	G	18	33346417	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.89813177076171E-4	0.09
18	30926381	A	T	18	33346417	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0673472695661051	0.466
18	30926382	C	A	18	33346418	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.71148408388572E-5	0.0
18	30926382	C	G	18	33346418	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.06557320733334E-5	0.006
18	30926382	C	T	18	33346418	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.4856791493066E-4	0.002
18	30926383	A	C	18	33346419	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00743456271616599	0.206
18	30926383	A	G	18	33346419	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.10698461050554E-5	0.012
18	30926383	A	T	18	33346419	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999895940267632	0.992
18	30926384	G	A	18	33346420	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.45757660437667E-5	0.002
18	30926384	G	C	18	33346420	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.811666546709E-5	0.038
18	30926384	G	T	18	33346420	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.63710547589102E-4	0.036
18	30926385	A	C	18	33346421	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0190084916683753	0.214
18	30926385	A	G	18	33346421	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.49807678703225E-5	0.026
18	30926385	A	T	18	33346421	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.030119381656562	0.286
18	30926386	A	C	18	33346422	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0656064038682095	0.33
18	30926386	A	G	18	33346422	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00330401655891346	0.136
18	30926386	A	T	18	33346422	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0306873903668748	0.248
18	30926387	A	C	18	33346423	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999951220124523	0.968
18	30926387	A	G	18	33346423	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00353182721406952	0.144
18	30926387	A	T	18	33346423	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.311296705150865	0.464
18	30928846	A	C	18	33348882	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00124924187171962	0.02
18	30928846	A	G	18	33348882	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.58711255066112E-4	0.022
18	30928846	A	T	18	33348882	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0016508607026579	0.026
18	30928847	A	C	18	33348883	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.46535800631387E-5	0.004
18	30928847	A	G	18	33348883	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.50864032604633E-5	0.044
18	30928847	A	T	18	33348883	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.50864032604633E-5	0.004
18	30928848	C	A	18	33348884	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.09940684875439E-5	0.0
18	30928848	C	G	18	33348884	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.38686023043888E-4	0.008
18	30928848	C	T	18	33348884	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.79592169676246E-5	0.0
18	30928849	T	A	18	33348885	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.55698020122367E-4	0.016
18	30928849	T	C	18	33348885	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.04994724382561E-4	0.13
18	30928849	T	G	18	33348885	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.01258908694506E-4	0.028
18	30928850	T	A	18	33348886	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.123995509152208	0.396
18	30928850	T	C	18	33348886	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.941601208819284	0.608
18	30928850	T	G	18	33348886	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.178143591087795	0.404
18	30928851	T	A	18	33348887	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999220668355728	0.81
18	30928851	T	C	18	33348887	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.636998794875399	0.518
18	30928851	T	G	18	33348887	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999116350649046	0.808
18	30928852	A	C	18	33348888	y	y	splicing	CCDC178(NM_001105528:exon8:c.457+2T>G;NM_198995:exon9:c.457+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.457+2T>G;ENST00000383096:exon9:c.457+2T>G;ENST00000300227:exon9:c.457+2T>G;ENST00000406524:exon7:c.457+2T>G;ENST00000583930:exon8:c.457+2T>G;ENST00000402325:exon7:c.457+2T>G;ENST00000579947:exon9:c.457+2T>G;ENST00000399177:exon8:c.457+2T>G)	.	.	0.999964896440643	0.95
18	30928852	A	G	18	33348888	y	y	splicing	CCDC178(NM_001105528:exon8:c.457+2T>C;NM_198995:exon9:c.457+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.457+2T>C;ENST00000383096:exon9:c.457+2T>C;ENST00000300227:exon9:c.457+2T>C;ENST00000406524:exon7:c.457+2T>C;ENST00000583930:exon8:c.457+2T>C;ENST00000402325:exon7:c.457+2T>C;ENST00000579947:exon9:c.457+2T>C;ENST00000399177:exon8:c.457+2T>C)	.	.	0.971898939314762	0.604
18	30928852	A	T	18	33348888	y	y	splicing	CCDC178(NM_001105528:exon8:c.457+2T>A;NM_198995:exon9:c.457+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.457+2T>A;ENST00000383096:exon9:c.457+2T>A;ENST00000300227:exon9:c.457+2T>A;ENST00000406524:exon7:c.457+2T>A;ENST00000583930:exon8:c.457+2T>A;ENST00000402325:exon7:c.457+2T>A;ENST00000579947:exon9:c.457+2T>A;ENST00000399177:exon8:c.457+2T>A)	.	.	0.999946188727699	0.952
18	30928853	C	A	18	33348889	y	y	splicing	CCDC178(NM_001105528:exon8:c.457+1G>T;NM_198995:exon9:c.457+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.457+1G>T;ENST00000383096:exon9:c.457+1G>T;ENST00000300227:exon9:c.457+1G>T;ENST00000406524:exon7:c.457+1G>T;ENST00000583930:exon8:c.457+1G>T;ENST00000402325:exon7:c.457+1G>T;ENST00000579947:exon9:c.457+1G>T;ENST00000399177:exon8:c.457+1G>T)	.	.	0.999933757597683	0.948
18	30928853	C	G	18	33348889	y	y	splicing	CCDC178(NM_001105528:exon8:c.457+1G>C;NM_198995:exon9:c.457+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.457+1G>C;ENST00000383096:exon9:c.457+1G>C;ENST00000300227:exon9:c.457+1G>C;ENST00000406524:exon7:c.457+1G>C;ENST00000583930:exon8:c.457+1G>C;ENST00000402325:exon7:c.457+1G>C;ENST00000579947:exon9:c.457+1G>C;ENST00000399177:exon8:c.457+1G>C)	.	.	0.999956786857988	0.946
18	30928853	C	T	18	33348889	y	y	splicing	CCDC178(NM_001105528:exon8:c.457+1G>A;NM_198995:exon9:c.457+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.457+1G>A;ENST00000383096:exon9:c.457+1G>A;ENST00000300227:exon9:c.457+1G>A;ENST00000406524:exon7:c.457+1G>A;ENST00000583930:exon8:c.457+1G>A;ENST00000402325:exon7:c.457+1G>A;ENST00000579947:exon9:c.457+1G>A;ENST00000399177:exon8:c.457+1G>A)	.	.	0.999933757597683	0.946
18	30928854	C	A	18	33348890	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.G457T:p.D153Y;CCDC178:NM_198995:exon8:c.G457T:p.D153Y;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.G457T:p.D153Y;ENSG00000166960:ENST00000402325:exon6:c.G457T:p.D153Y;ENSG00000166960:ENST00000583930:exon7:c.G457T:p.D153Y;ENSG00000166960:ENST00000383096:exon8:c.G457T:p.D153Y;ENSG00000166960:ENST00000300227:exon8:c.G457T:p.D153Y;ENSG00000166960:ENST00000399177:exon7:c.G457T:p.D153Y;ENSG00000166960:ENST00000403303:exon7:c.G457T:p.D153Y;ENSG00000166960:ENST00000579947:exon8:c.G457T:p.D153Y;	0.99998308093766	0.99
18	30928854	C	G	18	33348890	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.G457C:p.D153H;CCDC178:NM_198995:exon8:c.G457C:p.D153H;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.G457C:p.D153H;ENSG00000166960:ENST00000402325:exon6:c.G457C:p.D153H;ENSG00000166960:ENST00000583930:exon7:c.G457C:p.D153H;ENSG00000166960:ENST00000383096:exon8:c.G457C:p.D153H;ENSG00000166960:ENST00000300227:exon8:c.G457C:p.D153H;ENSG00000166960:ENST00000399177:exon7:c.G457C:p.D153H;ENSG00000166960:ENST00000403303:exon7:c.G457C:p.D153H;ENSG00000166960:ENST00000579947:exon8:c.G457C:p.D153H;	0.999992553918576	0.992
18	30928854	C	T	18	33348890	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.G457A:p.D153N;CCDC178:NM_198995:exon8:c.G457A:p.D153N;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.G457A:p.D153N;ENSG00000166960:ENST00000402325:exon6:c.G457A:p.D153N;ENSG00000166960:ENST00000583930:exon7:c.G457A:p.D153N;ENSG00000166960:ENST00000383096:exon8:c.G457A:p.D153N;ENSG00000166960:ENST00000300227:exon8:c.G457A:p.D153N;ENSG00000166960:ENST00000399177:exon7:c.G457A:p.D153N;ENSG00000166960:ENST00000403303:exon7:c.G457A:p.D153N;ENSG00000166960:ENST00000579947:exon8:c.G457A:p.D153N;	0.999975553714237	0.996
18	30928855	T	A	18	33348891	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.A456T:p.R152S;CCDC178:NM_198995:exon8:c.A456T:p.R152S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.A456T:p.R152S;ENSG00000166960:ENST00000402325:exon6:c.A456T:p.R152S;ENSG00000166960:ENST00000583930:exon7:c.A456T:p.R152S;ENSG00000166960:ENST00000383096:exon8:c.A456T:p.R152S;ENSG00000166960:ENST00000300227:exon8:c.A456T:p.R152S;ENSG00000166960:ENST00000399177:exon7:c.A456T:p.R152S;ENSG00000166960:ENST00000403303:exon7:c.A456T:p.R152S;ENSG00000166960:ENST00000579947:exon8:c.A456T:p.R152S;	0.990398340726339	0.748
18	30928855	T	C	18	33348891	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon7:c.A456G:p.R152R;CCDC178:NM_198995:exon8:c.A456G:p.R152R;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.A456G:p.R152R;ENSG00000166960:ENST00000402325:exon6:c.A456G:p.R152R;ENSG00000166960:ENST00000583930:exon7:c.A456G:p.R152R;ENSG00000166960:ENST00000383096:exon8:c.A456G:p.R152R;ENSG00000166960:ENST00000300227:exon8:c.A456G:p.R152R;ENSG00000166960:ENST00000399177:exon7:c.A456G:p.R152R;ENSG00000166960:ENST00000403303:exon7:c.A456G:p.R152R;ENSG00000166960:ENST00000579947:exon8:c.A456G:p.R152R;	0.986447535856428	0.79
18	30928855	T	G	18	33348891	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.A456C:p.R152S;CCDC178:NM_198995:exon8:c.A456C:p.R152S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.A456C:p.R152S;ENSG00000166960:ENST00000402325:exon6:c.A456C:p.R152S;ENSG00000166960:ENST00000583930:exon7:c.A456C:p.R152S;ENSG00000166960:ENST00000383096:exon8:c.A456C:p.R152S;ENSG00000166960:ENST00000300227:exon8:c.A456C:p.R152S;ENSG00000166960:ENST00000399177:exon7:c.A456C:p.R152S;ENSG00000166960:ENST00000403303:exon7:c.A456C:p.R152S;ENSG00000166960:ENST00000579947:exon8:c.A456C:p.R152S;	0.848439115256593	0.672
18	30928856	C	A	18	33348892	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.G455T:p.R152I;CCDC178:NM_198995:exon8:c.G455T:p.R152I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.G455T:p.R152I;ENSG00000166960:ENST00000402325:exon6:c.G455T:p.R152I;ENSG00000166960:ENST00000583930:exon7:c.G455T:p.R152I;ENSG00000166960:ENST00000383096:exon8:c.G455T:p.R152I;ENSG00000166960:ENST00000300227:exon8:c.G455T:p.R152I;ENSG00000166960:ENST00000399177:exon7:c.G455T:p.R152I;ENSG00000166960:ENST00000403303:exon7:c.G455T:p.R152I;ENSG00000166960:ENST00000579947:exon8:c.G455T:p.R152I;	0.0010259055838998	0.088
18	30928856	C	G	18	33348892	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.G455C:p.R152T;CCDC178:NM_198995:exon8:c.G455C:p.R152T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.G455C:p.R152T;ENSG00000166960:ENST00000402325:exon6:c.G455C:p.R152T;ENSG00000166960:ENST00000583930:exon7:c.G455C:p.R152T;ENSG00000166960:ENST00000383096:exon8:c.G455C:p.R152T;ENSG00000166960:ENST00000300227:exon8:c.G455C:p.R152T;ENSG00000166960:ENST00000399177:exon7:c.G455C:p.R152T;ENSG00000166960:ENST00000403303:exon7:c.G455C:p.R152T;ENSG00000166960:ENST00000579947:exon8:c.G455C:p.R152T;	2.0349892842058E-4	0.0
18	30928856	C	T	18	33348892	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.G455A:p.R152K;CCDC178:NM_198995:exon8:c.G455A:p.R152K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.G455A:p.R152K;ENSG00000166960:ENST00000402325:exon6:c.G455A:p.R152K;ENSG00000166960:ENST00000583930:exon7:c.G455A:p.R152K;ENSG00000166960:ENST00000383096:exon8:c.G455A:p.R152K;ENSG00000166960:ENST00000300227:exon8:c.G455A:p.R152K;ENSG00000166960:ENST00000399177:exon7:c.G455A:p.R152K;ENSG00000166960:ENST00000403303:exon7:c.G455A:p.R152K;ENSG00000166960:ENST00000579947:exon8:c.G455A:p.R152K;	2.0545871225251E-4	0.0
18	30928938	T	A	18	33348974	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.A373T:p.S125C;CCDC178:NM_198995:exon8:c.A373T:p.S125C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.A373T:p.S125C;ENSG00000166960:ENST00000402325:exon6:c.A373T:p.S125C;ENSG00000166960:ENST00000583930:exon7:c.A373T:p.S125C;ENSG00000166960:ENST00000383096:exon8:c.A373T:p.S125C;ENSG00000166960:ENST00000300227:exon8:c.A373T:p.S125C;ENSG00000166960:ENST00000399177:exon7:c.A373T:p.S125C;ENSG00000166960:ENST00000403303:exon7:c.A373T:p.S125C;ENSG00000166960:ENST00000579947:exon8:c.A373T:p.S125C;	1.27586880828343E-4	0.0
18	30928938	T	C	18	33348974	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.A373G:p.S125G;CCDC178:NM_198995:exon8:c.A373G:p.S125G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.A373G:p.S125G;ENSG00000166960:ENST00000402325:exon6:c.A373G:p.S125G;ENSG00000166960:ENST00000583930:exon7:c.A373G:p.S125G;ENSG00000166960:ENST00000383096:exon8:c.A373G:p.S125G;ENSG00000166960:ENST00000300227:exon8:c.A373G:p.S125G;ENSG00000166960:ENST00000399177:exon7:c.A373G:p.S125G;ENSG00000166960:ENST00000403303:exon7:c.A373G:p.S125G;ENSG00000166960:ENST00000579947:exon8:c.A373G:p.S125G;	2.01986460227771E-4	0.006
18	30928938	T	G	18	33348974	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.A373C:p.S125R;CCDC178:NM_198995:exon8:c.A373C:p.S125R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.A373C:p.S125R;ENSG00000166960:ENST00000402325:exon6:c.A373C:p.S125R;ENSG00000166960:ENST00000583930:exon7:c.A373C:p.S125R;ENSG00000166960:ENST00000383096:exon8:c.A373C:p.S125R;ENSG00000166960:ENST00000300227:exon8:c.A373C:p.S125R;ENSG00000166960:ENST00000399177:exon7:c.A373C:p.S125R;ENSG00000166960:ENST00000403303:exon7:c.A373C:p.S125R;ENSG00000166960:ENST00000579947:exon8:c.A373C:p.S125R;	2.37824452408638E-4	0.0
18	30928939	C	A	18	33348975	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.G372T:p.W124C;CCDC178:NM_198995:exon8:c.G372T:p.W124C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.G372T:p.W124C;ENSG00000166960:ENST00000402325:exon6:c.G372T:p.W124C;ENSG00000166960:ENST00000583930:exon7:c.G372T:p.W124C;ENSG00000166960:ENST00000383096:exon8:c.G372T:p.W124C;ENSG00000166960:ENST00000300227:exon8:c.G372T:p.W124C;ENSG00000166960:ENST00000399177:exon7:c.G372T:p.W124C;ENSG00000166960:ENST00000403303:exon7:c.G372T:p.W124C;ENSG00000166960:ENST00000579947:exon8:c.G372T:p.W124C;	0.99796128544873	0.712
18	30928939	C	G	18	33348975	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon7:c.G372C:p.W124C;CCDC178:NM_198995:exon8:c.G372C:p.W124C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon6:c.G372C:p.W124C;ENSG00000166960:ENST00000402325:exon6:c.G372C:p.W124C;ENSG00000166960:ENST00000583930:exon7:c.G372C:p.W124C;ENSG00000166960:ENST00000383096:exon8:c.G372C:p.W124C;ENSG00000166960:ENST00000300227:exon8:c.G372C:p.W124C;ENSG00000166960:ENST00000399177:exon7:c.G372C:p.W124C;ENSG00000166960:ENST00000403303:exon7:c.G372C:p.W124C;ENSG00000166960:ENST00000579947:exon8:c.G372C:p.W124C;	0.945203733512272	0.58
18	30928939	C	T	18	33348975	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon7:c.G372A:p.W124X;CCDC178:NM_198995:exon8:c.G372A:p.W124X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon6:c.G372A:p.W124X;ENSG00000166960:ENST00000402325:exon6:c.G372A:p.W124X;ENSG00000166960:ENST00000583930:exon7:c.G372A:p.W124X;ENSG00000166960:ENST00000383096:exon8:c.G372A:p.W124X;ENSG00000166960:ENST00000300227:exon8:c.G372A:p.W124X;ENSG00000166960:ENST00000399177:exon7:c.G372A:p.W124X;ENSG00000166960:ENST00000403303:exon7:c.G372A:p.W124X;ENSG00000166960:ENST00000579947:exon8:c.G372A:p.W124X;	0.999869344871762	0.914
18	30928940	C	A	18	33348976	y	y	splicing	CCDC178(NM_001105528:exon8:c.372-1G>T;NM_198995:exon9:c.372-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.372-1G>T;ENST00000383096:exon9:c.372-1G>T;ENST00000300227:exon9:c.372-1G>T;ENST00000406524:exon7:c.372-1G>T;ENST00000583930:exon8:c.372-1G>T;ENST00000402325:exon7:c.372-1G>T;ENST00000579947:exon9:c.372-1G>T;ENST00000399177:exon8:c.372-1G>T)	.	.	0.999951701316767	0.876
18	30928940	C	G	18	33348976	y	y	splicing	CCDC178(NM_001105528:exon8:c.372-1G>C;NM_198995:exon9:c.372-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.372-1G>C;ENST00000383096:exon9:c.372-1G>C;ENST00000300227:exon9:c.372-1G>C;ENST00000406524:exon7:c.372-1G>C;ENST00000583930:exon8:c.372-1G>C;ENST00000402325:exon7:c.372-1G>C;ENST00000579947:exon9:c.372-1G>C;ENST00000399177:exon8:c.372-1G>C)	.	.	0.999946672743932	0.868
18	30928940	C	T	18	33348976	y	y	splicing	CCDC178(NM_001105528:exon8:c.372-1G>A;NM_198995:exon9:c.372-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.372-1G>A;ENST00000383096:exon9:c.372-1G>A;ENST00000300227:exon9:c.372-1G>A;ENST00000406524:exon7:c.372-1G>A;ENST00000583930:exon8:c.372-1G>A;ENST00000402325:exon7:c.372-1G>A;ENST00000579947:exon9:c.372-1G>A;ENST00000399177:exon8:c.372-1G>A)	.	.	0.999952943628106	0.874
18	30928941	T	A	18	33348977	y	y	splicing	CCDC178(NM_001105528:exon8:c.372-2A>T;NM_198995:exon9:c.372-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.372-2A>T;ENST00000383096:exon9:c.372-2A>T;ENST00000300227:exon9:c.372-2A>T;ENST00000406524:exon7:c.372-2A>T;ENST00000583930:exon8:c.372-2A>T;ENST00000402325:exon7:c.372-2A>T;ENST00000579947:exon9:c.372-2A>T;ENST00000399177:exon8:c.372-2A>T)	.	.	0.999871793741964	0.836
18	30928941	T	C	18	33348977	y	y	splicing	CCDC178(NM_001105528:exon8:c.372-2A>G;NM_198995:exon9:c.372-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.372-2A>G;ENST00000383096:exon9:c.372-2A>G;ENST00000300227:exon9:c.372-2A>G;ENST00000406524:exon7:c.372-2A>G;ENST00000583930:exon8:c.372-2A>G;ENST00000402325:exon7:c.372-2A>G;ENST00000579947:exon9:c.372-2A>G;ENST00000399177:exon8:c.372-2A>G)	.	.	0.999871793741964	0.8
18	30928941	T	G	18	33348977	y	y	splicing	CCDC178(NM_001105528:exon8:c.372-2A>C;NM_198995:exon9:c.372-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon8:c.372-2A>C;ENST00000383096:exon9:c.372-2A>C;ENST00000300227:exon9:c.372-2A>C;ENST00000406524:exon7:c.372-2A>C;ENST00000583930:exon8:c.372-2A>C;ENST00000402325:exon7:c.372-2A>C;ENST00000579947:exon9:c.372-2A>C;ENST00000399177:exon8:c.372-2A>C)	.	.	0.999871793741964	0.8
18	30928942	A	C	18	33348978	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.930733148553771	0.716
18	30928942	A	G	18	33348978	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.41440411617654E-5	0.0
18	30928942	A	T	18	33348978	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.030498481741148	0.276
18	30928943	T	A	18	33348979	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.52532255306649E-5	0.002
18	30928943	T	C	18	33348979	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.30544971584956E-4	0.002
18	30928943	T	G	18	33348979	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.4368428472114E-5	0.002
18	30928944	A	C	18	33348980	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999279473116977	0.942
18	30928944	A	G	18	33348980	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.95473700485538E-4	0.014
18	30928944	A	T	18	33348980	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.249987581446213	0.51
18	30928945	T	A	18	33348981	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.65047354028333E-5	0.0
18	30928945	T	C	18	33348981	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.17486155721189E-5	0.002
18	30928945	T	G	18	33348981	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.64305550328267E-5	0.004
18	30928946	A	C	18	33348982	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00667052502883861	0.062
18	30928946	A	G	18	33348982	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.52810391514709E-5	0.0
18	30928946	A	T	18	33348982	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00274084889554858	0.044
18	30928947	A	C	18	33348983	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998169068787021	0.952
18	30928947	A	G	18	33348983	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.46660337745159E-5	0.02
18	30928947	A	T	18	33348983	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.013506194488809	0.136
18	30928948	T	A	18	33348984	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.250243698046E-5	0.0
18	30928948	T	C	18	33348984	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.87115486830937E-5	0.002
18	30928948	T	G	18	33348984	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.74088577263394E-5	0.008
18	30928949	G	A	18	33348985	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.05059111188853E-5	0.002
18	30928949	G	C	18	33348985	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.50111210457851E-4	0.066
18	30928949	G	T	18	33348985	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.61467894276635E-4	0.046
18	30928950	G	A	18	33348986	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.07630545216468E-5	0.002
18	30928950	G	C	18	33348986	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.15571401866089E-5	0.032
18	30928950	G	T	18	33348986	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.19193822106829E-5	0.012
18	30928951	G	A	18	33348987	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.96134131938084E-5	0.0
18	30928951	G	C	18	33348987	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.16824010777902E-4	0.06
18	30928951	G	T	18	33348987	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.71771229913046E-4	0.032
18	30936280	T	A	18	33356316	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.62998006072595E-4	0.02
18	30936280	T	C	18	33356316	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.79529326766482E-5	0.0
18	30936280	T	G	18	33356316	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.5925590125168E-4	0.002
18	30936281	T	A	18	33356317	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.00100784233821E-4	0.006
18	30936281	T	C	18	33356317	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.00100784233821E-4	0.0
18	30936281	T	G	18	33356317	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.44682472353823E-4	0.0
18	30936282	T	A	18	33356318	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.77047363767059E-5	0.006
18	30936282	T	C	18	33356318	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.3012088804248E-5	0.0
18	30936282	T	G	18	33356318	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.62989964544347E-4	0.02
18	30936283	C	A	18	33356319	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999651288554017	0.882
18	30936283	C	G	18	33356319	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999706810144494	0.962
18	30936283	C	T	18	33356319	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999903328896172	0.924
18	30936284	T	A	18	33356320	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.98931907451192	0.836
18	30936284	T	C	18	33356320	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.983654970888542	0.838
18	30936284	T	G	18	33356320	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.983705369807349	0.752
18	30936285	T	A	18	33356321	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.995468648782198	0.92
18	30936285	T	C	18	33356321	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.805023272307608	0.51
18	30936285	T	G	18	33356321	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.99828674367003	0.944
18	30936286	A	C	18	33356322	y	y	splicing	CCDC178(NM_001105528:exon7:c.371+2T>G;NM_198995:exon8:c.371+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.371+2T>G;ENST00000383096:exon8:c.371+2T>G;ENST00000300227:exon8:c.371+2T>G;ENST00000406524:exon6:c.371+2T>G;ENST00000583930:exon7:c.371+2T>G;ENST00000402325:exon6:c.371+2T>G;ENST00000579947:exon8:c.371+2T>G;ENST00000399177:exon7:c.371+2T>G)	.	.	0.999988247793601	0.926
18	30936286	A	G	18	33356322	y	y	splicing	CCDC178(NM_001105528:exon7:c.371+2T>C;NM_198995:exon8:c.371+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.371+2T>C;ENST00000383096:exon8:c.371+2T>C;ENST00000300227:exon8:c.371+2T>C;ENST00000406524:exon6:c.371+2T>C;ENST00000583930:exon7:c.371+2T>C;ENST00000402325:exon6:c.371+2T>C;ENST00000579947:exon8:c.371+2T>C;ENST00000399177:exon7:c.371+2T>C)	.	.	0.99991522016916	0.89
18	30936286	A	T	18	33356322	y	y	splicing	CCDC178(NM_001105528:exon7:c.371+2T>A;NM_198995:exon8:c.371+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.371+2T>A;ENST00000383096:exon8:c.371+2T>A;ENST00000300227:exon8:c.371+2T>A;ENST00000406524:exon6:c.371+2T>A;ENST00000583930:exon7:c.371+2T>A;ENST00000402325:exon6:c.371+2T>A;ENST00000579947:exon8:c.371+2T>A;ENST00000399177:exon7:c.371+2T>A)	.	.	0.999988247793601	0.926
18	30936287	C	A	18	33356323	y	y	splicing	CCDC178(NM_001105528:exon7:c.371+1G>T;NM_198995:exon8:c.371+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.371+1G>T;ENST00000383096:exon8:c.371+1G>T;ENST00000300227:exon8:c.371+1G>T;ENST00000406524:exon6:c.371+1G>T;ENST00000583930:exon7:c.371+1G>T;ENST00000402325:exon6:c.371+1G>T;ENST00000579947:exon8:c.371+1G>T;ENST00000399177:exon7:c.371+1G>T)	.	.	0.999985532734767	0.936
18	30936287	C	G	18	33356323	y	y	splicing	CCDC178(NM_001105528:exon7:c.371+1G>C;NM_198995:exon8:c.371+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.371+1G>C;ENST00000383096:exon8:c.371+1G>C;ENST00000300227:exon8:c.371+1G>C;ENST00000406524:exon6:c.371+1G>C;ENST00000583930:exon7:c.371+1G>C;ENST00000402325:exon6:c.371+1G>C;ENST00000579947:exon8:c.371+1G>C;ENST00000399177:exon7:c.371+1G>C)	.	.	0.999985532734767	0.936
18	30936287	C	T	18	33356323	y	y	splicing	CCDC178(NM_001105528:exon7:c.371+1G>A;NM_198995:exon8:c.371+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.371+1G>A;ENST00000383096:exon8:c.371+1G>A;ENST00000300227:exon8:c.371+1G>A;ENST00000406524:exon6:c.371+1G>A;ENST00000583930:exon7:c.371+1G>A;ENST00000402325:exon6:c.371+1G>A;ENST00000579947:exon8:c.371+1G>A;ENST00000399177:exon7:c.371+1G>A)	.	.	0.999985532734767	0.936
18	30936288	C	A	18	33356324	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.G371T:p.W124L;CCDC178:NM_198995:exon7:c.G371T:p.W124L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.G371T:p.W124L;ENSG00000166960:ENST00000402325:exon5:c.G371T:p.W124L;ENSG00000166960:ENST00000583930:exon6:c.G371T:p.W124L;ENSG00000166960:ENST00000383096:exon7:c.G371T:p.W124L;ENSG00000166960:ENST00000300227:exon7:c.G371T:p.W124L;ENSG00000166960:ENST00000399177:exon6:c.G371T:p.W124L;ENSG00000166960:ENST00000403303:exon6:c.G371T:p.W124L;ENSG00000166960:ENST00000579947:exon7:c.G371T:p.W124L;	0.999223581268974	0.948
18	30936288	C	G	18	33356324	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.G371C:p.W124S;CCDC178:NM_198995:exon7:c.G371C:p.W124S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.G371C:p.W124S;ENSG00000166960:ENST00000402325:exon5:c.G371C:p.W124S;ENSG00000166960:ENST00000583930:exon6:c.G371C:p.W124S;ENSG00000166960:ENST00000383096:exon7:c.G371C:p.W124S;ENSG00000166960:ENST00000300227:exon7:c.G371C:p.W124S;ENSG00000166960:ENST00000399177:exon6:c.G371C:p.W124S;ENSG00000166960:ENST00000403303:exon6:c.G371C:p.W124S;ENSG00000166960:ENST00000579947:exon7:c.G371C:p.W124S;	0.9987708325043	0.856
18	30936288	C	T	18	33356324	y	y	exonic	CCDC178	stopgain SNV	CCDC178:NM_001105528:exon6:c.G371A:p.W124X;CCDC178:NM_198995:exon7:c.G371A:p.W124X;	exonic	ENSG00000166960	stopgain SNV	ENSG00000166960:ENST00000406524:exon5:c.G371A:p.W124X;ENSG00000166960:ENST00000402325:exon5:c.G371A:p.W124X;ENSG00000166960:ENST00000583930:exon6:c.G371A:p.W124X;ENSG00000166960:ENST00000383096:exon7:c.G371A:p.W124X;ENSG00000166960:ENST00000300227:exon7:c.G371A:p.W124X;ENSG00000166960:ENST00000399177:exon6:c.G371A:p.W124X;ENSG00000166960:ENST00000403303:exon6:c.G371A:p.W124X;ENSG00000166960:ENST00000579947:exon7:c.G371A:p.W124X;	0.999989135906202	0.99
18	30936289	A	C	18	33356325	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T370G:p.W124G;CCDC178:NM_198995:exon7:c.T370G:p.W124G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T370G:p.W124G;ENSG00000166960:ENST00000402325:exon5:c.T370G:p.W124G;ENSG00000166960:ENST00000583930:exon6:c.T370G:p.W124G;ENSG00000166960:ENST00000383096:exon7:c.T370G:p.W124G;ENSG00000166960:ENST00000300227:exon7:c.T370G:p.W124G;ENSG00000166960:ENST00000399177:exon6:c.T370G:p.W124G;ENSG00000166960:ENST00000403303:exon6:c.T370G:p.W124G;ENSG00000166960:ENST00000579947:exon7:c.T370G:p.W124G;	0.00166218903869915	0.102
18	30936289	A	G	18	33356325	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T370C:p.W124R;CCDC178:NM_198995:exon7:c.T370C:p.W124R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T370C:p.W124R;ENSG00000166960:ENST00000402325:exon5:c.T370C:p.W124R;ENSG00000166960:ENST00000583930:exon6:c.T370C:p.W124R;ENSG00000166960:ENST00000383096:exon7:c.T370C:p.W124R;ENSG00000166960:ENST00000300227:exon7:c.T370C:p.W124R;ENSG00000166960:ENST00000399177:exon6:c.T370C:p.W124R;ENSG00000166960:ENST00000403303:exon6:c.T370C:p.W124R;ENSG00000166960:ENST00000579947:exon7:c.T370C:p.W124R;	0.00205974347079481	0.094
18	30936289	A	T	18	33356325	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T370A:p.W124R;CCDC178:NM_198995:exon7:c.T370A:p.W124R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T370A:p.W124R;ENSG00000166960:ENST00000402325:exon5:c.T370A:p.W124R;ENSG00000166960:ENST00000583930:exon6:c.T370A:p.W124R;ENSG00000166960:ENST00000383096:exon7:c.T370A:p.W124R;ENSG00000166960:ENST00000300227:exon7:c.T370A:p.W124R;ENSG00000166960:ENST00000399177:exon6:c.T370A:p.W124R;ENSG00000166960:ENST00000403303:exon6:c.T370A:p.W124R;ENSG00000166960:ENST00000579947:exon7:c.T370A:p.W124R;	0.00124179802549971	0.076
18	30936290	T	A	18	33356326	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.A369T:p.E123D;CCDC178:NM_198995:exon7:c.A369T:p.E123D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.A369T:p.E123D;ENSG00000166960:ENST00000402325:exon5:c.A369T:p.E123D;ENSG00000166960:ENST00000583930:exon6:c.A369T:p.E123D;ENSG00000166960:ENST00000383096:exon7:c.A369T:p.E123D;ENSG00000166960:ENST00000300227:exon7:c.A369T:p.E123D;ENSG00000166960:ENST00000399177:exon6:c.A369T:p.E123D;ENSG00000166960:ENST00000403303:exon6:c.A369T:p.E123D;ENSG00000166960:ENST00000579947:exon7:c.A369T:p.E123D;	0.175998746129828	0.3
18	30936290	T	C	18	33356326	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon6:c.A369G:p.E123E;CCDC178:NM_198995:exon7:c.A369G:p.E123E;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.A369G:p.E123E;ENSG00000166960:ENST00000402325:exon5:c.A369G:p.E123E;ENSG00000166960:ENST00000583930:exon6:c.A369G:p.E123E;ENSG00000166960:ENST00000383096:exon7:c.A369G:p.E123E;ENSG00000166960:ENST00000300227:exon7:c.A369G:p.E123E;ENSG00000166960:ENST00000399177:exon6:c.A369G:p.E123E;ENSG00000166960:ENST00000403303:exon6:c.A369G:p.E123E;ENSG00000166960:ENST00000579947:exon7:c.A369G:p.E123E;	0.0107012654266382	0.14
18	30936290	T	G	18	33356326	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.A369C:p.E123D;CCDC178:NM_198995:exon7:c.A369C:p.E123D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.A369C:p.E123D;ENSG00000166960:ENST00000402325:exon5:c.A369C:p.E123D;ENSG00000166960:ENST00000583930:exon6:c.A369C:p.E123D;ENSG00000166960:ENST00000383096:exon7:c.A369C:p.E123D;ENSG00000166960:ENST00000300227:exon7:c.A369C:p.E123D;ENSG00000166960:ENST00000399177:exon6:c.A369C:p.E123D;ENSG00000166960:ENST00000403303:exon6:c.A369C:p.E123D;ENSG00000166960:ENST00000579947:exon7:c.A369C:p.E123D;	0.00366621833963351	0.022
18	30936309	A	C	18	33356345	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T350G:p.F117C;CCDC178:NM_198995:exon7:c.T350G:p.F117C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T350G:p.F117C;ENSG00000166960:ENST00000402325:exon5:c.T350G:p.F117C;ENSG00000166960:ENST00000583930:exon6:c.T350G:p.F117C;ENSG00000166960:ENST00000383096:exon7:c.T350G:p.F117C;ENSG00000166960:ENST00000300227:exon7:c.T350G:p.F117C;ENSG00000166960:ENST00000399177:exon6:c.T350G:p.F117C;ENSG00000166960:ENST00000403303:exon6:c.T350G:p.F117C;ENSG00000166960:ENST00000579947:exon7:c.T350G:p.F117C;	0.00626976089285335	0.162
18	30936309	A	G	18	33356345	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T350C:p.F117S;CCDC178:NM_198995:exon7:c.T350C:p.F117S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T350C:p.F117S;ENSG00000166960:ENST00000402325:exon5:c.T350C:p.F117S;ENSG00000166960:ENST00000583930:exon6:c.T350C:p.F117S;ENSG00000166960:ENST00000383096:exon7:c.T350C:p.F117S;ENSG00000166960:ENST00000300227:exon7:c.T350C:p.F117S;ENSG00000166960:ENST00000399177:exon6:c.T350C:p.F117S;ENSG00000166960:ENST00000403303:exon6:c.T350C:p.F117S;ENSG00000166960:ENST00000579947:exon7:c.T350C:p.F117S;	0.0117181943099004	0.174
18	30936309	A	T	18	33356345	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T350A:p.F117Y;CCDC178:NM_198995:exon7:c.T350A:p.F117Y;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T350A:p.F117Y;ENSG00000166960:ENST00000402325:exon5:c.T350A:p.F117Y;ENSG00000166960:ENST00000583930:exon6:c.T350A:p.F117Y;ENSG00000166960:ENST00000383096:exon7:c.T350A:p.F117Y;ENSG00000166960:ENST00000300227:exon7:c.T350A:p.F117Y;ENSG00000166960:ENST00000399177:exon6:c.T350A:p.F117Y;ENSG00000166960:ENST00000403303:exon6:c.T350A:p.F117Y;ENSG00000166960:ENST00000579947:exon7:c.T350A:p.F117Y;	0.0578495974761396	0.13
18	30936310	A	C	18	33356346	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T349G:p.F117V;CCDC178:NM_198995:exon7:c.T349G:p.F117V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T349G:p.F117V;ENSG00000166960:ENST00000402325:exon5:c.T349G:p.F117V;ENSG00000166960:ENST00000583930:exon6:c.T349G:p.F117V;ENSG00000166960:ENST00000383096:exon7:c.T349G:p.F117V;ENSG00000166960:ENST00000300227:exon7:c.T349G:p.F117V;ENSG00000166960:ENST00000399177:exon6:c.T349G:p.F117V;ENSG00000166960:ENST00000403303:exon6:c.T349G:p.F117V;ENSG00000166960:ENST00000579947:exon7:c.T349G:p.F117V;	0.00135505943863684	0.146
18	30936310	A	G	18	33356346	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T349C:p.F117L;CCDC178:NM_198995:exon7:c.T349C:p.F117L;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T349C:p.F117L;ENSG00000166960:ENST00000402325:exon5:c.T349C:p.F117L;ENSG00000166960:ENST00000583930:exon6:c.T349C:p.F117L;ENSG00000166960:ENST00000383096:exon7:c.T349C:p.F117L;ENSG00000166960:ENST00000300227:exon7:c.T349C:p.F117L;ENSG00000166960:ENST00000399177:exon6:c.T349C:p.F117L;ENSG00000166960:ENST00000403303:exon6:c.T349C:p.F117L;ENSG00000166960:ENST00000579947:exon7:c.T349C:p.F117L;	6.70596152019308E-5	0.022
18	30936310	A	T	18	33356346	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.T349A:p.F117I;CCDC178:NM_198995:exon7:c.T349A:p.F117I;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon5:c.T349A:p.F117I;ENSG00000166960:ENST00000402325:exon5:c.T349A:p.F117I;ENSG00000166960:ENST00000583930:exon6:c.T349A:p.F117I;ENSG00000166960:ENST00000383096:exon7:c.T349A:p.F117I;ENSG00000166960:ENST00000300227:exon7:c.T349A:p.F117I;ENSG00000166960:ENST00000399177:exon6:c.T349A:p.F117I;ENSG00000166960:ENST00000403303:exon6:c.T349A:p.F117I;ENSG00000166960:ENST00000579947:exon7:c.T349A:p.F117I;	1.23948134391815E-4	0.0
18	30936311	C	A	18	33356347	y	y	splicing	CCDC178(NM_001105528:exon7:c.349-1G>T;NM_198995:exon8:c.349-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.349-1G>T;ENST00000383096:exon8:c.349-1G>T;ENST00000300227:exon8:c.349-1G>T;ENST00000406524:exon6:c.349-1G>T;ENST00000583930:exon7:c.349-1G>T;ENST00000402325:exon6:c.349-1G>T;ENST00000579947:exon8:c.349-1G>T;ENST00000399177:exon7:c.349-1G>T)	.	.	0.999985532734767	0.936
18	30936311	C	G	18	33356347	y	y	splicing	CCDC178(NM_001105528:exon7:c.349-1G>C;NM_198995:exon8:c.349-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.349-1G>C;ENST00000383096:exon8:c.349-1G>C;ENST00000300227:exon8:c.349-1G>C;ENST00000406524:exon6:c.349-1G>C;ENST00000583930:exon7:c.349-1G>C;ENST00000402325:exon6:c.349-1G>C;ENST00000579947:exon8:c.349-1G>C;ENST00000399177:exon7:c.349-1G>C)	.	.	0.999985532734767	0.936
18	30936311	C	T	18	33356347	y	y	splicing	CCDC178(NM_001105528:exon7:c.349-1G>A;NM_198995:exon8:c.349-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.349-1G>A;ENST00000383096:exon8:c.349-1G>A;ENST00000300227:exon8:c.349-1G>A;ENST00000406524:exon6:c.349-1G>A;ENST00000583930:exon7:c.349-1G>A;ENST00000402325:exon6:c.349-1G>A;ENST00000579947:exon8:c.349-1G>A;ENST00000399177:exon7:c.349-1G>A)	.	.	0.999985532734767	0.936
18	30936312	T	A	18	33356348	y	y	splicing	CCDC178(NM_001105528:exon7:c.349-2A>T;NM_198995:exon8:c.349-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.349-2A>T;ENST00000383096:exon8:c.349-2A>T;ENST00000300227:exon8:c.349-2A>T;ENST00000406524:exon6:c.349-2A>T;ENST00000583930:exon7:c.349-2A>T;ENST00000402325:exon6:c.349-2A>T;ENST00000579947:exon8:c.349-2A>T;ENST00000399177:exon7:c.349-2A>T)	.	.	0.999988247793601	0.926
18	30936312	T	C	18	33356348	y	y	splicing	CCDC178(NM_001105528:exon7:c.349-2A>G;NM_198995:exon8:c.349-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.349-2A>G;ENST00000383096:exon8:c.349-2A>G;ENST00000300227:exon8:c.349-2A>G;ENST00000406524:exon6:c.349-2A>G;ENST00000583930:exon7:c.349-2A>G;ENST00000402325:exon6:c.349-2A>G;ENST00000579947:exon8:c.349-2A>G;ENST00000399177:exon7:c.349-2A>G)	.	.	0.999988247793601	0.926
18	30936312	T	G	18	33356348	y	y	splicing	CCDC178(NM_001105528:exon7:c.349-2A>C;NM_198995:exon8:c.349-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon7:c.349-2A>C;ENST00000383096:exon8:c.349-2A>C;ENST00000300227:exon8:c.349-2A>C;ENST00000406524:exon6:c.349-2A>C;ENST00000583930:exon7:c.349-2A>C;ENST00000402325:exon6:c.349-2A>C;ENST00000579947:exon8:c.349-2A>C;ENST00000399177:exon7:c.349-2A>C)	.	.	0.999988247793601	0.926
18	30936313	G	A	18	33356349	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0499023531914649	0.224
18	30936313	G	C	18	33356349	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999787110731845	0.958
18	30936313	G	T	18	33356349	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.995453611886532	0.822
18	30936314	T	A	18	33356350	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.14687658485091E-4	0.108
18	30936314	T	C	18	33356350	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.25736292027346E-4	0.052
18	30936314	T	G	18	33356350	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.98740997090975E-4	0.02
18	30936315	C	A	18	33356351	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.05533325659835E-4	0.002
18	30936315	C	G	18	33356351	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.07125229007308E-5	0.0
18	30936315	C	T	18	33356351	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.08713931797281E-5	0.004
18	30936316	A	C	18	33356352	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.61819477498075	0.652
18	30936316	A	G	18	33356352	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.92158040727086E-5	0.018
18	30936316	A	T	18	33356352	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999926198029086	0.956
18	30936317	A	C	18	33356353	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.485125114542493	0.442
18	30936317	A	G	18	33356353	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.56519989278844E-4	0.008
18	30936317	A	T	18	33356353	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.988915863599361	0.816
18	30936318	A	C	18	33356354	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.803541009388984	0.616
18	30936318	A	G	18	33356354	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00600220486822696	0.112
18	30936318	A	T	18	33356354	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.88247666347523	0.712
18	30936319	A	C	18	33356355	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.909780974359067	0.694
18	30936319	A	G	18	33356355	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00998871148354652	0.096
18	30936319	A	T	18	33356355	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.977993098327811	0.804
18	30936320	C	A	18	33356356	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.57995999558749E-6	0.008
18	30936320	C	G	18	33356356	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.67314667788223E-5	0.016
18	30936320	C	T	18	33356356	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.84991029185339E-5	0.168
18	30936321	A	C	18	33356357	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999208167043938	0.934
18	30936321	A	G	18	33356357	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.97881840099957	0.474
18	30936321	A	T	18	33356357	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999986655814138	0.978
18	30936322	A	C	18	33356358	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.996835113838664	0.722
18	30936322	A	G	18	33356358	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.192083318752202	0.408
18	30936322	A	T	18	33356358	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.997636184803747	0.836
18	30950006	T	A	18	33370042	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.62850261126439E-6	0.004
18	30950006	T	C	18	33370042	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.62850261126439E-6	0.0
18	30950006	T	G	18	33370042	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.57368379873993E-6	0.0
18	30950007	C	A	18	33370043	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.77457243820827E-5	0.0
18	30950007	C	G	18	33370043	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.53929084429736E-6	0.0
18	30950007	C	T	18	33370043	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.53929084429736E-6	0.0
18	30950008	T	A	18	33370044	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.62797607069596E-5	0.01
18	30950008	T	C	18	33370044	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.95091356684852E-5	0.046
18	30950008	T	G	18	33370044	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.95712548910311E-4	0.014
18	30950009	C	A	18	33370045	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999107921097388	0.694
18	30950009	C	G	18	33370045	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999732678450278	0.822
18	30950009	C	T	18	33370045	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.994297754284982	0.694
18	30950010	T	A	18	33370046	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.541861779113657	0.58
18	30950010	T	C	18	33370046	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.637394333194457	0.612
18	30950010	T	G	18	33370046	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.535773282297048	0.424
18	30950011	T	A	18	33370047	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998518809905624	0.728
18	30950011	T	C	18	33370047	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0350840486349475	0.258
18	30950011	T	G	18	33370047	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.996822186949554	0.778
18	30950012	A	C	18	33370048	y	y	splicing	CCDC178(NM_001105528:exon6:c.348+2T>G;NM_198995:exon7:c.348+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.348+2T>G;ENST00000383096:exon7:c.348+2T>G;ENST00000300227:exon7:c.348+2T>G;ENST00000579916:exon6:c.348+2T>G;ENST00000406524:exon5:c.348+2T>G;ENST00000583930:exon6:c.348+2T>G;ENST00000402325:exon5:c.348+2T>G;ENST00000579947:exon7:c.348+2T>G;ENST00000399177:exon6:c.348+2T>G)	.	.	0.999929575678921	0.772
18	30950012	A	G	18	33370048	y	y	splicing	CCDC178(NM_001105528:exon6:c.348+2T>C;NM_198995:exon7:c.348+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.348+2T>C;ENST00000383096:exon7:c.348+2T>C;ENST00000300227:exon7:c.348+2T>C;ENST00000579916:exon6:c.348+2T>C;ENST00000406524:exon5:c.348+2T>C;ENST00000583930:exon6:c.348+2T>C;ENST00000402325:exon5:c.348+2T>C;ENST00000579947:exon7:c.348+2T>C;ENST00000399177:exon6:c.348+2T>C)	.	.	0.999300285975189	0.728
18	30950012	A	T	18	33370048	y	y	splicing	CCDC178(NM_001105528:exon6:c.348+2T>A;NM_198995:exon7:c.348+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.348+2T>A;ENST00000383096:exon7:c.348+2T>A;ENST00000300227:exon7:c.348+2T>A;ENST00000579916:exon6:c.348+2T>A;ENST00000406524:exon5:c.348+2T>A;ENST00000583930:exon6:c.348+2T>A;ENST00000402325:exon5:c.348+2T>A;ENST00000579947:exon7:c.348+2T>A;ENST00000399177:exon6:c.348+2T>A)	.	.	0.999929575678921	0.77
18	30950013	C	A	18	33370049	y	y	splicing	CCDC178(NM_001105528:exon6:c.348+1G>T;NM_198995:exon7:c.348+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.348+1G>T;ENST00000383096:exon7:c.348+1G>T;ENST00000300227:exon7:c.348+1G>T;ENST00000579916:exon6:c.348+1G>T;ENST00000406524:exon5:c.348+1G>T;ENST00000583930:exon6:c.348+1G>T;ENST00000402325:exon5:c.348+1G>T;ENST00000579947:exon7:c.348+1G>T;ENST00000399177:exon6:c.348+1G>T)	.	.	0.999962153403958	0.866
18	30950013	C	G	18	33370049	y	y	splicing	CCDC178(NM_001105528:exon6:c.348+1G>C;NM_198995:exon7:c.348+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.348+1G>C;ENST00000383096:exon7:c.348+1G>C;ENST00000300227:exon7:c.348+1G>C;ENST00000579916:exon6:c.348+1G>C;ENST00000406524:exon5:c.348+1G>C;ENST00000583930:exon6:c.348+1G>C;ENST00000402325:exon5:c.348+1G>C;ENST00000579947:exon7:c.348+1G>C;ENST00000399177:exon6:c.348+1G>C)	.	.	0.999962153403958	0.864
18	30950013	C	T	18	33370049	y	y	splicing	CCDC178(NM_001105528:exon6:c.348+1G>A;NM_198995:exon7:c.348+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.348+1G>A;ENST00000383096:exon7:c.348+1G>A;ENST00000300227:exon7:c.348+1G>A;ENST00000579916:exon6:c.348+1G>A;ENST00000406524:exon5:c.348+1G>A;ENST00000583930:exon6:c.348+1G>A;ENST00000402325:exon5:c.348+1G>A;ENST00000579947:exon7:c.348+1G>A;ENST00000399177:exon6:c.348+1G>A)	.	.	0.999962153403958	0.87
18	30950014	C	A	18	33370050	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.G348T:p.R116S;CCDC178:NM_198995:exon6:c.G348T:p.R116S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G348T:p.R116S;ENSG00000166960:ENST00000402325:exon4:c.G348T:p.R116S;ENSG00000166960:ENST00000583930:exon5:c.G348T:p.R116S;ENSG00000166960:ENST00000579916:exon5:c.G348T:p.R116S;ENSG00000166960:ENST00000383096:exon6:c.G348T:p.R116S;ENSG00000166960:ENST00000300227:exon6:c.G348T:p.R116S;ENSG00000166960:ENST00000399177:exon5:c.G348T:p.R116S;ENSG00000166960:ENST00000403303:exon5:c.G348T:p.R116S;ENSG00000166960:ENST00000579947:exon6:c.G348T:p.R116S;	0.782025859569277	0.79
18	30950014	C	G	18	33370050	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.G348C:p.R116S;CCDC178:NM_198995:exon6:c.G348C:p.R116S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G348C:p.R116S;ENSG00000166960:ENST00000402325:exon4:c.G348C:p.R116S;ENSG00000166960:ENST00000583930:exon5:c.G348C:p.R116S;ENSG00000166960:ENST00000579916:exon5:c.G348C:p.R116S;ENSG00000166960:ENST00000383096:exon6:c.G348C:p.R116S;ENSG00000166960:ENST00000300227:exon6:c.G348C:p.R116S;ENSG00000166960:ENST00000399177:exon5:c.G348C:p.R116S;ENSG00000166960:ENST00000403303:exon5:c.G348C:p.R116S;ENSG00000166960:ENST00000579947:exon6:c.G348C:p.R116S;	0.903458284737932	0.61
18	30950014	C	T	18	33370050	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon5:c.G348A:p.R116R;CCDC178:NM_198995:exon6:c.G348A:p.R116R;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G348A:p.R116R;ENSG00000166960:ENST00000402325:exon4:c.G348A:p.R116R;ENSG00000166960:ENST00000583930:exon5:c.G348A:p.R116R;ENSG00000166960:ENST00000579916:exon5:c.G348A:p.R116R;ENSG00000166960:ENST00000383096:exon6:c.G348A:p.R116R;ENSG00000166960:ENST00000300227:exon6:c.G348A:p.R116R;ENSG00000166960:ENST00000399177:exon5:c.G348A:p.R116R;ENSG00000166960:ENST00000403303:exon5:c.G348A:p.R116R;ENSG00000166960:ENST00000579947:exon6:c.G348A:p.R116R;	0.640273982202717	0.736
18	30950015	C	A	18	33370051	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.G347T:p.R116M;CCDC178:NM_198995:exon6:c.G347T:p.R116M;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G347T:p.R116M;ENSG00000166960:ENST00000402325:exon4:c.G347T:p.R116M;ENSG00000166960:ENST00000583930:exon5:c.G347T:p.R116M;ENSG00000166960:ENST00000579916:exon5:c.G347T:p.R116M;ENSG00000166960:ENST00000383096:exon6:c.G347T:p.R116M;ENSG00000166960:ENST00000300227:exon6:c.G347T:p.R116M;ENSG00000166960:ENST00000399177:exon5:c.G347T:p.R116M;ENSG00000166960:ENST00000403303:exon5:c.G347T:p.R116M;ENSG00000166960:ENST00000579947:exon6:c.G347T:p.R116M;	7.58919077945562E-5	0.008
18	30950015	C	G	18	33370051	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.G347C:p.R116T;CCDC178:NM_198995:exon6:c.G347C:p.R116T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G347C:p.R116T;ENSG00000166960:ENST00000402325:exon4:c.G347C:p.R116T;ENSG00000166960:ENST00000583930:exon5:c.G347C:p.R116T;ENSG00000166960:ENST00000579916:exon5:c.G347C:p.R116T;ENSG00000166960:ENST00000383096:exon6:c.G347C:p.R116T;ENSG00000166960:ENST00000300227:exon6:c.G347C:p.R116T;ENSG00000166960:ENST00000399177:exon5:c.G347C:p.R116T;ENSG00000166960:ENST00000403303:exon5:c.G347C:p.R116T;ENSG00000166960:ENST00000579947:exon6:c.G347C:p.R116T;	4.86448833267311E-5	0.0
18	30950015	C	T	18	33370051	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.G347A:p.R116K;CCDC178:NM_198995:exon6:c.G347A:p.R116K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G347A:p.R116K;ENSG00000166960:ENST00000402325:exon4:c.G347A:p.R116K;ENSG00000166960:ENST00000583930:exon5:c.G347A:p.R116K;ENSG00000166960:ENST00000579916:exon5:c.G347A:p.R116K;ENSG00000166960:ENST00000383096:exon6:c.G347A:p.R116K;ENSG00000166960:ENST00000300227:exon6:c.G347A:p.R116K;ENSG00000166960:ENST00000399177:exon5:c.G347A:p.R116K;ENSG00000166960:ENST00000403303:exon5:c.G347A:p.R116K;ENSG00000166960:ENST00000579947:exon6:c.G347A:p.R116K;	8.25351092403981E-5	0.018
18	30950016	T	A	18	33370052	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.A346T:p.R116W;CCDC178:NM_198995:exon6:c.A346T:p.R116W;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.A346T:p.R116W;ENSG00000166960:ENST00000402325:exon4:c.A346T:p.R116W;ENSG00000166960:ENST00000583930:exon5:c.A346T:p.R116W;ENSG00000166960:ENST00000579916:exon5:c.A346T:p.R116W;ENSG00000166960:ENST00000383096:exon6:c.A346T:p.R116W;ENSG00000166960:ENST00000300227:exon6:c.A346T:p.R116W;ENSG00000166960:ENST00000399177:exon5:c.A346T:p.R116W;ENSG00000166960:ENST00000403303:exon5:c.A346T:p.R116W;ENSG00000166960:ENST00000579947:exon6:c.A346T:p.R116W;	4.31219862830156E-4	0.11
18	30950016	T	C	18	33370052	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.A346G:p.R116G;CCDC178:NM_198995:exon6:c.A346G:p.R116G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.A346G:p.R116G;ENSG00000166960:ENST00000402325:exon4:c.A346G:p.R116G;ENSG00000166960:ENST00000583930:exon5:c.A346G:p.R116G;ENSG00000166960:ENST00000579916:exon5:c.A346G:p.R116G;ENSG00000166960:ENST00000383096:exon6:c.A346G:p.R116G;ENSG00000166960:ENST00000300227:exon6:c.A346G:p.R116G;ENSG00000166960:ENST00000399177:exon5:c.A346G:p.R116G;ENSG00000166960:ENST00000403303:exon5:c.A346G:p.R116G;ENSG00000166960:ENST00000579947:exon6:c.A346G:p.R116G;	6.90895802861641E-5	0.004
18	30950016	T	G	18	33370052	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon5:c.A346C:p.R116R;CCDC178:NM_198995:exon6:c.A346C:p.R116R;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.A346C:p.R116R;ENSG00000166960:ENST00000402325:exon4:c.A346C:p.R116R;ENSG00000166960:ENST00000583930:exon5:c.A346C:p.R116R;ENSG00000166960:ENST00000579916:exon5:c.A346C:p.R116R;ENSG00000166960:ENST00000383096:exon6:c.A346C:p.R116R;ENSG00000166960:ENST00000300227:exon6:c.A346C:p.R116R;ENSG00000166960:ENST00000399177:exon5:c.A346C:p.R116R;ENSG00000166960:ENST00000403303:exon5:c.A346C:p.R116R;ENSG00000166960:ENST00000579947:exon6:c.A346C:p.R116R;	1.19235916027063E-5	0.002
18	30950152	C	A	18	33370188	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon5:c.G210T:p.G70G;CCDC178:NM_198995:exon6:c.G210T:p.G70G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G210T:p.G70G;ENSG00000166960:ENST00000402325:exon4:c.G210T:p.G70G;ENSG00000166960:ENST00000583930:exon5:c.G210T:p.G70G;ENSG00000166960:ENST00000579916:exon5:c.G210T:p.G70G;ENSG00000166960:ENST00000577766:exon6:c.G210T:p.G70G;ENSG00000166960:ENST00000383096:exon6:c.G210T:p.G70G;ENSG00000166960:ENST00000300227:exon6:c.G210T:p.G70G;ENSG00000166960:ENST00000399177:exon5:c.G210T:p.G70G;ENSG00000166960:ENST00000403303:exon5:c.G210T:p.G70G;ENSG00000166960:ENST00000579947:exon6:c.G210T:p.G70G;	2.87187270291468E-5	0.014
18	30950152	C	G	18	33370188	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon5:c.G210C:p.G70G;CCDC178:NM_198995:exon6:c.G210C:p.G70G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G210C:p.G70G;ENSG00000166960:ENST00000402325:exon4:c.G210C:p.G70G;ENSG00000166960:ENST00000583930:exon5:c.G210C:p.G70G;ENSG00000166960:ENST00000579916:exon5:c.G210C:p.G70G;ENSG00000166960:ENST00000577766:exon6:c.G210C:p.G70G;ENSG00000166960:ENST00000383096:exon6:c.G210C:p.G70G;ENSG00000166960:ENST00000300227:exon6:c.G210C:p.G70G;ENSG00000166960:ENST00000399177:exon5:c.G210C:p.G70G;ENSG00000166960:ENST00000403303:exon5:c.G210C:p.G70G;ENSG00000166960:ENST00000579947:exon6:c.G210C:p.G70G;	5.36330720719696E-5	0.028
18	30950152	C	T	18	33370188	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon5:c.G210A:p.G70G;CCDC178:NM_198995:exon6:c.G210A:p.G70G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G210A:p.G70G;ENSG00000166960:ENST00000402325:exon4:c.G210A:p.G70G;ENSG00000166960:ENST00000583930:exon5:c.G210A:p.G70G;ENSG00000166960:ENST00000579916:exon5:c.G210A:p.G70G;ENSG00000166960:ENST00000577766:exon6:c.G210A:p.G70G;ENSG00000166960:ENST00000383096:exon6:c.G210A:p.G70G;ENSG00000166960:ENST00000300227:exon6:c.G210A:p.G70G;ENSG00000166960:ENST00000399177:exon5:c.G210A:p.G70G;ENSG00000166960:ENST00000403303:exon5:c.G210A:p.G70G;ENSG00000166960:ENST00000579947:exon6:c.G210A:p.G70G;	5.18327290408891E-5	0.032
18	30950153	C	A	18	33370189	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.G209T:p.G70V;CCDC178:NM_198995:exon6:c.G209T:p.G70V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G209T:p.G70V;ENSG00000166960:ENST00000402325:exon4:c.G209T:p.G70V;ENSG00000166960:ENST00000583930:exon5:c.G209T:p.G70V;ENSG00000166960:ENST00000579916:exon5:c.G209T:p.G70V;ENSG00000166960:ENST00000577766:exon6:c.G209T:p.G70V;ENSG00000166960:ENST00000383096:exon6:c.G209T:p.G70V;ENSG00000166960:ENST00000300227:exon6:c.G209T:p.G70V;ENSG00000166960:ENST00000399177:exon5:c.G209T:p.G70V;ENSG00000166960:ENST00000403303:exon5:c.G209T:p.G70V;ENSG00000166960:ENST00000579947:exon6:c.G209T:p.G70V;	0.0160142402464869	0.238
18	30950153	C	G	18	33370189	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.G209C:p.G70A;CCDC178:NM_198995:exon6:c.G209C:p.G70A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G209C:p.G70A;ENSG00000166960:ENST00000402325:exon4:c.G209C:p.G70A;ENSG00000166960:ENST00000583930:exon5:c.G209C:p.G70A;ENSG00000166960:ENST00000579916:exon5:c.G209C:p.G70A;ENSG00000166960:ENST00000577766:exon6:c.G209C:p.G70A;ENSG00000166960:ENST00000383096:exon6:c.G209C:p.G70A;ENSG00000166960:ENST00000300227:exon6:c.G209C:p.G70A;ENSG00000166960:ENST00000399177:exon5:c.G209C:p.G70A;ENSG00000166960:ENST00000403303:exon5:c.G209C:p.G70A;ENSG00000166960:ENST00000579947:exon6:c.G209C:p.G70A;	0.00109587791036862	0.092
18	30950153	C	T	18	33370189	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon5:c.G209A:p.G70E;CCDC178:NM_198995:exon6:c.G209A:p.G70E;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon4:c.G209A:p.G70E;ENSG00000166960:ENST00000402325:exon4:c.G209A:p.G70E;ENSG00000166960:ENST00000583930:exon5:c.G209A:p.G70E;ENSG00000166960:ENST00000579916:exon5:c.G209A:p.G70E;ENSG00000166960:ENST00000577766:exon6:c.G209A:p.G70E;ENSG00000166960:ENST00000383096:exon6:c.G209A:p.G70E;ENSG00000166960:ENST00000300227:exon6:c.G209A:p.G70E;ENSG00000166960:ENST00000399177:exon5:c.G209A:p.G70E;ENSG00000166960:ENST00000403303:exon5:c.G209A:p.G70E;ENSG00000166960:ENST00000579947:exon6:c.G209A:p.G70E;	5.6328296836585E-4	0.116
18	30950154	C	A	18	33370190	y	y	splicing	CCDC178(NM_001105528:exon6:c.209-1G>T;NM_198995:exon7:c.209-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.209-1G>T;ENST00000383096:exon7:c.209-1G>T;ENST00000300227:exon7:c.209-1G>T;ENST00000579916:exon6:c.209-1G>T;ENST00000406524:exon5:c.209-1G>T;ENST00000583930:exon6:c.209-1G>T;ENST00000402325:exon5:c.209-1G>T;ENST00000579947:exon7:c.209-1G>T;ENST00000399177:exon6:c.209-1G>T;ENST00000577766:exon7:c.209-1G>T)	.	.	0.999938990645747	0.936
18	30950154	C	G	18	33370190	y	y	splicing	CCDC178(NM_001105528:exon6:c.209-1G>C;NM_198995:exon7:c.209-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.209-1G>C;ENST00000383096:exon7:c.209-1G>C;ENST00000300227:exon7:c.209-1G>C;ENST00000579916:exon6:c.209-1G>C;ENST00000406524:exon5:c.209-1G>C;ENST00000583930:exon6:c.209-1G>C;ENST00000402325:exon5:c.209-1G>C;ENST00000579947:exon7:c.209-1G>C;ENST00000399177:exon6:c.209-1G>C;ENST00000577766:exon7:c.209-1G>C)	.	.	0.999938990645747	0.928
18	30950154	C	T	18	33370190	y	y	splicing	CCDC178(NM_001105528:exon6:c.209-1G>A;NM_198995:exon7:c.209-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.209-1G>A;ENST00000383096:exon7:c.209-1G>A;ENST00000300227:exon7:c.209-1G>A;ENST00000579916:exon6:c.209-1G>A;ENST00000406524:exon5:c.209-1G>A;ENST00000583930:exon6:c.209-1G>A;ENST00000402325:exon5:c.209-1G>A;ENST00000579947:exon7:c.209-1G>A;ENST00000399177:exon6:c.209-1G>A;ENST00000577766:exon7:c.209-1G>A)	.	.	0.999938990645747	0.94
18	30950155	T	A	18	33370191	y	y	splicing	CCDC178(NM_001105528:exon6:c.209-2A>T;NM_198995:exon7:c.209-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.209-2A>T;ENST00000383096:exon7:c.209-2A>T;ENST00000300227:exon7:c.209-2A>T;ENST00000579916:exon6:c.209-2A>T;ENST00000406524:exon5:c.209-2A>T;ENST00000583930:exon6:c.209-2A>T;ENST00000402325:exon5:c.209-2A>T;ENST00000579947:exon7:c.209-2A>T;ENST00000399177:exon6:c.209-2A>T;ENST00000577766:exon7:c.209-2A>T)	.	.	0.999946188727699	0.946
18	30950155	T	C	18	33370191	y	y	splicing	CCDC178(NM_001105528:exon6:c.209-2A>G;NM_198995:exon7:c.209-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.209-2A>G;ENST00000383096:exon7:c.209-2A>G;ENST00000300227:exon7:c.209-2A>G;ENST00000579916:exon6:c.209-2A>G;ENST00000406524:exon5:c.209-2A>G;ENST00000583930:exon6:c.209-2A>G;ENST00000402325:exon5:c.209-2A>G;ENST00000579947:exon7:c.209-2A>G;ENST00000399177:exon6:c.209-2A>G;ENST00000577766:exon7:c.209-2A>G)	.	.	0.999946188727699	0.928
18	30950155	T	G	18	33370191	y	y	splicing	CCDC178(NM_001105528:exon6:c.209-2A>C;NM_198995:exon7:c.209-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon6:c.209-2A>C;ENST00000383096:exon7:c.209-2A>C;ENST00000300227:exon7:c.209-2A>C;ENST00000579916:exon6:c.209-2A>C;ENST00000406524:exon5:c.209-2A>C;ENST00000583930:exon6:c.209-2A>C;ENST00000402325:exon5:c.209-2A>C;ENST00000579947:exon7:c.209-2A>C;ENST00000399177:exon6:c.209-2A>C;ENST00000577766:exon7:c.209-2A>C)	.	.	0.999946188727699	0.928
18	30950156	A	C	18	33370192	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998130883073768	0.648
18	30950156	A	G	18	33370192	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.7931809084179E-5	0.014
18	30950156	A	T	18	33370192	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00387206938184458	0.236
18	30950157	A	C	18	33370193	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.83032876526192E-5	0.002
18	30950157	A	G	18	33370193	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.60938777387594E-5	0.0
18	30950157	A	T	18	33370193	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.61897632006754E-5	0.004
18	30950158	A	C	18	33370194	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00106099178938957	0.096
18	30950158	A	G	18	33370194	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.6838042175277E-5	0.0
18	30950158	A	T	18	33370194	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.21704076006102E-4	0.068
18	30950159	G	A	18	33370195	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.0298806693462E-5	0.0
18	30950159	G	C	18	33370195	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.68731855497951E-4	0.028
18	30950159	G	T	18	33370195	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.63076582005155E-4	0.012
18	30950160	A	C	18	33370196	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.74079439545656E-4	0.058
18	30950160	A	G	18	33370196	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.1560287836892E-4	0.002
18	30950160	A	T	18	33370196	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.74346273847022E-4	0.068
18	30950161	G	A	18	33370197	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.59793323597462E-5	0.002
18	30950161	G	C	18	33370197	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.83538760830539E-5	0.012
18	30950161	G	T	18	33370197	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.46349788949895E-5	0.006
18	30950162	A	C	18	33370198	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.43607052443686E-4	0.054
18	30950162	A	G	18	33370198	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.07849203452592E-5	0.0
18	30950162	A	T	18	33370198	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.27015905677052E-4	0.048
18	30950163	A	C	18	33370199	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.69096854310335E-4	0.112
18	30950163	A	G	18	33370199	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.74234264447477E-5	0.004
18	30950163	A	T	18	33370199	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.33955134557795E-4	0.074
18	30950164	C	A	18	33370200	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.7634072299745E-5	0.0
18	30950164	C	G	18	33370200	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.71989704579224E-6	0.0
18	30950164	C	T	18	33370200	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.92927740537757E-5	0.0
18	30950165	A	C	18	33370201	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.13442801130625E-4	0.162
18	30950165	A	G	18	33370201	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.32278671737419E-4	0.006
18	30950165	A	T	18	33370201	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998655037883423	0.92
18	30969496	G	A	18	33389532	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.87051748464323E-5	0.0
18	30969496	G	C	18	33389532	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.90754079466668E-5	0.002
18	30969496	G	T	18	33389532	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.87051748464323E-5	0.0
18	30969497	T	A	18	33389533	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.70479773900113E-5	0.0
18	30969497	T	C	18	33389533	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.79314207206413E-5	0.004
18	30969497	T	G	18	33389533	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.10777434070336E-5	0.014
18	30969498	C	A	18	33389534	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.31412537097348E-5	0.004
18	30969498	C	G	18	33389534	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.42160615580002E-5	0.004
18	30969498	C	T	18	33389534	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.92749604557964E-5	0.002
18	30969499	C	A	18	33389535	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999247805677498	0.9
18	30969499	C	G	18	33389535	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.812810995771797	0.654
18	30969499	C	T	18	33389535	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.983116847024717	0.848
18	30969500	T	A	18	33389536	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.98103333566843	0.614
18	30969500	T	C	18	33389536	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.956546373124741	0.656
18	30969500	T	G	18	33389536	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.660998542813779	0.492
18	30969501	C	A	18	33389537	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0171419808146991	0.198
18	30969501	C	G	18	33389537	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00552899305087884	0.186
18	30969501	C	T	18	33389537	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.71564264970933E-5	0.0
18	30969502	A	C	18	33389538	y	y	splicing	CCDC178(NM_001105528:exon5:c.208+2T>G;NM_198995:exon6:c.208+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.208+2T>G;ENST00000383096:exon6:c.208+2T>G;ENST00000300227:exon6:c.208+2T>G;ENST00000579916:exon5:c.208+2T>G;ENST00000406524:exon4:c.208+2T>G;ENST00000583930:exon5:c.208+2T>G;ENST00000402325:exon4:c.208+2T>G;ENST00000579947:exon6:c.208+2T>G;ENST00000399177:exon5:c.208+2T>G;ENST00000577766:exon6:c.208+2T>G)	.	.	0.999978672009528	0.934
18	30969502	A	G	18	33389538	y	y	splicing	CCDC178(NM_001105528:exon5:c.208+2T>C;NM_198995:exon6:c.208+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.208+2T>C;ENST00000383096:exon6:c.208+2T>C;ENST00000300227:exon6:c.208+2T>C;ENST00000579916:exon5:c.208+2T>C;ENST00000406524:exon4:c.208+2T>C;ENST00000583930:exon5:c.208+2T>C;ENST00000402325:exon4:c.208+2T>C;ENST00000579947:exon6:c.208+2T>C;ENST00000399177:exon5:c.208+2T>C;ENST00000577766:exon6:c.208+2T>C)	.	.	0.999911309672424	0.904
18	30969502	A	T	18	33389538	y	y	splicing	CCDC178(NM_001105528:exon5:c.208+2T>A;NM_198995:exon6:c.208+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.208+2T>A;ENST00000383096:exon6:c.208+2T>A;ENST00000300227:exon6:c.208+2T>A;ENST00000579916:exon5:c.208+2T>A;ENST00000406524:exon4:c.208+2T>A;ENST00000583930:exon5:c.208+2T>A;ENST00000402325:exon4:c.208+2T>A;ENST00000579947:exon6:c.208+2T>A;ENST00000399177:exon5:c.208+2T>A;ENST00000577766:exon6:c.208+2T>A)	.	.	0.999967305459904	0.936
18	30969503	C	A	18	33389539	y	y	splicing	CCDC178(NM_001105528:exon5:c.208+1G>T;NM_198995:exon6:c.208+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.208+1G>T;ENST00000383096:exon6:c.208+1G>T;ENST00000300227:exon6:c.208+1G>T;ENST00000579916:exon5:c.208+1G>T;ENST00000406524:exon4:c.208+1G>T;ENST00000583930:exon5:c.208+1G>T;ENST00000402325:exon4:c.208+1G>T;ENST00000579947:exon6:c.208+1G>T;ENST00000399177:exon5:c.208+1G>T;ENST00000577766:exon6:c.208+1G>T)	.	.	0.999938990645747	0.932
18	30969503	C	G	18	33389539	y	y	splicing	CCDC178(NM_001105528:exon5:c.208+1G>C;NM_198995:exon6:c.208+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.208+1G>C;ENST00000383096:exon6:c.208+1G>C;ENST00000300227:exon6:c.208+1G>C;ENST00000579916:exon5:c.208+1G>C;ENST00000406524:exon4:c.208+1G>C;ENST00000583930:exon5:c.208+1G>C;ENST00000402325:exon4:c.208+1G>C;ENST00000579947:exon6:c.208+1G>C;ENST00000399177:exon5:c.208+1G>C;ENST00000577766:exon6:c.208+1G>C)	.	.	0.999938990645747	0.94
18	30969503	C	T	18	33389539	y	y	splicing	CCDC178(NM_001105528:exon5:c.208+1G>A;NM_198995:exon6:c.208+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.208+1G>A;ENST00000383096:exon6:c.208+1G>A;ENST00000300227:exon6:c.208+1G>A;ENST00000579916:exon5:c.208+1G>A;ENST00000406524:exon4:c.208+1G>A;ENST00000583930:exon5:c.208+1G>A;ENST00000402325:exon4:c.208+1G>A;ENST00000579947:exon6:c.208+1G>A;ENST00000399177:exon5:c.208+1G>A;ENST00000577766:exon6:c.208+1G>A)	.	.	0.999938990645747	0.946
18	30969504	C	A	18	33389540	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.G208T:p.G70W;CCDC178:NM_198995:exon5:c.G208T:p.G70W;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.G208T:p.G70W;ENSG00000166960:ENST00000402325:exon3:c.G208T:p.G70W;ENSG00000166960:ENST00000583930:exon4:c.G208T:p.G70W;ENSG00000166960:ENST00000579916:exon4:c.G208T:p.G70W;ENSG00000166960:ENST00000577766:exon5:c.G208T:p.G70W;ENSG00000166960:ENST00000383096:exon5:c.G208T:p.G70W;ENSG00000166960:ENST00000300227:exon5:c.G208T:p.G70W;ENSG00000166960:ENST00000399177:exon4:c.G208T:p.G70W;ENSG00000166960:ENST00000403303:exon4:c.G208T:p.G70W;ENSG00000166960:ENST00000579947:exon5:c.G208T:p.G70W;	0.998370352906091	0.896
18	30969504	C	G	18	33389540	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.G208C:p.G70R;CCDC178:NM_198995:exon5:c.G208C:p.G70R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.G208C:p.G70R;ENSG00000166960:ENST00000402325:exon3:c.G208C:p.G70R;ENSG00000166960:ENST00000583930:exon4:c.G208C:p.G70R;ENSG00000166960:ENST00000579916:exon4:c.G208C:p.G70R;ENSG00000166960:ENST00000577766:exon5:c.G208C:p.G70R;ENSG00000166960:ENST00000383096:exon5:c.G208C:p.G70R;ENSG00000166960:ENST00000300227:exon5:c.G208C:p.G70R;ENSG00000166960:ENST00000399177:exon4:c.G208C:p.G70R;ENSG00000166960:ENST00000403303:exon4:c.G208C:p.G70R;ENSG00000166960:ENST00000579947:exon5:c.G208C:p.G70R;	0.999961820906647	0.884
18	30969504	C	T	18	33389540	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.G208A:p.G70R;CCDC178:NM_198995:exon5:c.G208A:p.G70R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.G208A:p.G70R;ENSG00000166960:ENST00000402325:exon3:c.G208A:p.G70R;ENSG00000166960:ENST00000583930:exon4:c.G208A:p.G70R;ENSG00000166960:ENST00000579916:exon4:c.G208A:p.G70R;ENSG00000166960:ENST00000577766:exon5:c.G208A:p.G70R;ENSG00000166960:ENST00000383096:exon5:c.G208A:p.G70R;ENSG00000166960:ENST00000300227:exon5:c.G208A:p.G70R;ENSG00000166960:ENST00000399177:exon4:c.G208A:p.G70R;ENSG00000166960:ENST00000403303:exon4:c.G208A:p.G70R;ENSG00000166960:ENST00000579947:exon5:c.G208A:p.G70R;	0.997348062078959	0.966
18	30969505	T	A	18	33389541	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.A207T:p.E69D;CCDC178:NM_198995:exon5:c.A207T:p.E69D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.A207T:p.E69D;ENSG00000166960:ENST00000402325:exon3:c.A207T:p.E69D;ENSG00000166960:ENST00000583930:exon4:c.A207T:p.E69D;ENSG00000166960:ENST00000579916:exon4:c.A207T:p.E69D;ENSG00000166960:ENST00000577766:exon5:c.A207T:p.E69D;ENSG00000166960:ENST00000383096:exon5:c.A207T:p.E69D;ENSG00000166960:ENST00000300227:exon5:c.A207T:p.E69D;ENSG00000166960:ENST00000399177:exon4:c.A207T:p.E69D;ENSG00000166960:ENST00000403303:exon4:c.A207T:p.E69D;ENSG00000166960:ENST00000579947:exon5:c.A207T:p.E69D;	0.656276561092698	0.728
18	30969505	T	C	18	33389541	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon4:c.A207G:p.E69E;CCDC178:NM_198995:exon5:c.A207G:p.E69E;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.A207G:p.E69E;ENSG00000166960:ENST00000402325:exon3:c.A207G:p.E69E;ENSG00000166960:ENST00000583930:exon4:c.A207G:p.E69E;ENSG00000166960:ENST00000579916:exon4:c.A207G:p.E69E;ENSG00000166960:ENST00000577766:exon5:c.A207G:p.E69E;ENSG00000166960:ENST00000383096:exon5:c.A207G:p.E69E;ENSG00000166960:ENST00000300227:exon5:c.A207G:p.E69E;ENSG00000166960:ENST00000399177:exon4:c.A207G:p.E69E;ENSG00000166960:ENST00000403303:exon4:c.A207G:p.E69E;ENSG00000166960:ENST00000579947:exon5:c.A207G:p.E69E;	0.852765207040755	0.622
18	30969505	T	G	18	33389541	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.A207C:p.E69D;CCDC178:NM_198995:exon5:c.A207C:p.E69D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.A207C:p.E69D;ENSG00000166960:ENST00000402325:exon3:c.A207C:p.E69D;ENSG00000166960:ENST00000583930:exon4:c.A207C:p.E69D;ENSG00000166960:ENST00000579916:exon4:c.A207C:p.E69D;ENSG00000166960:ENST00000577766:exon5:c.A207C:p.E69D;ENSG00000166960:ENST00000383096:exon5:c.A207C:p.E69D;ENSG00000166960:ENST00000300227:exon5:c.A207C:p.E69D;ENSG00000166960:ENST00000399177:exon4:c.A207C:p.E69D;ENSG00000166960:ENST00000403303:exon4:c.A207C:p.E69D;ENSG00000166960:ENST00000579947:exon5:c.A207C:p.E69D;	0.597484330302686	0.724
18	30969506	T	A	18	33389542	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.A206T:p.E69V;CCDC178:NM_198995:exon5:c.A206T:p.E69V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.A206T:p.E69V;ENSG00000166960:ENST00000402325:exon3:c.A206T:p.E69V;ENSG00000166960:ENST00000583930:exon4:c.A206T:p.E69V;ENSG00000166960:ENST00000579916:exon4:c.A206T:p.E69V;ENSG00000166960:ENST00000577766:exon5:c.A206T:p.E69V;ENSG00000166960:ENST00000383096:exon5:c.A206T:p.E69V;ENSG00000166960:ENST00000300227:exon5:c.A206T:p.E69V;ENSG00000166960:ENST00000399177:exon4:c.A206T:p.E69V;ENSG00000166960:ENST00000403303:exon4:c.A206T:p.E69V;ENSG00000166960:ENST00000579947:exon5:c.A206T:p.E69V;	0.00939849898526827	0.308
18	30969506	T	C	18	33389542	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.A206G:p.E69G;CCDC178:NM_198995:exon5:c.A206G:p.E69G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.A206G:p.E69G;ENSG00000166960:ENST00000402325:exon3:c.A206G:p.E69G;ENSG00000166960:ENST00000583930:exon4:c.A206G:p.E69G;ENSG00000166960:ENST00000579916:exon4:c.A206G:p.E69G;ENSG00000166960:ENST00000577766:exon5:c.A206G:p.E69G;ENSG00000166960:ENST00000383096:exon5:c.A206G:p.E69G;ENSG00000166960:ENST00000300227:exon5:c.A206G:p.E69G;ENSG00000166960:ENST00000399177:exon4:c.A206G:p.E69G;ENSG00000166960:ENST00000403303:exon4:c.A206G:p.E69G;ENSG00000166960:ENST00000579947:exon5:c.A206G:p.E69G;	2.98225690131182E-4	0.004
18	30969506	T	G	18	33389542	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.A206C:p.E69A;CCDC178:NM_198995:exon5:c.A206C:p.E69A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.A206C:p.E69A;ENSG00000166960:ENST00000402325:exon3:c.A206C:p.E69A;ENSG00000166960:ENST00000583930:exon4:c.A206C:p.E69A;ENSG00000166960:ENST00000579916:exon4:c.A206C:p.E69A;ENSG00000166960:ENST00000577766:exon5:c.A206C:p.E69A;ENSG00000166960:ENST00000383096:exon5:c.A206C:p.E69A;ENSG00000166960:ENST00000300227:exon5:c.A206C:p.E69A;ENSG00000166960:ENST00000399177:exon4:c.A206C:p.E69A;ENSG00000166960:ENST00000403303:exon4:c.A206C:p.E69A;ENSG00000166960:ENST00000579947:exon5:c.A206C:p.E69A;	2.23209322722093E-4	0.0
18	30969592	G	A	18	33389628	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon4:c.C120T:p.G40G;CCDC178:NM_198995:exon5:c.C120T:p.G40G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.C120T:p.G40G;ENSG00000166960:ENST00000402325:exon3:c.C120T:p.G40G;ENSG00000166960:ENST00000583930:exon4:c.C120T:p.G40G;ENSG00000166960:ENST00000579916:exon4:c.C120T:p.G40G;ENSG00000166960:ENST00000577766:exon5:c.C120T:p.G40G;ENSG00000166960:ENST00000383096:exon5:c.C120T:p.G40G;ENSG00000166960:ENST00000300227:exon5:c.C120T:p.G40G;ENSG00000166960:ENST00000399177:exon4:c.C120T:p.G40G;ENSG00000166960:ENST00000403303:exon4:c.C120T:p.G40G;ENSG00000166960:ENST00000579947:exon5:c.C120T:p.G40G;	1.59163514984598E-5	0.0
18	30969592	G	C	18	33389628	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon4:c.C120G:p.G40G;CCDC178:NM_198995:exon5:c.C120G:p.G40G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.C120G:p.G40G;ENSG00000166960:ENST00000402325:exon3:c.C120G:p.G40G;ENSG00000166960:ENST00000583930:exon4:c.C120G:p.G40G;ENSG00000166960:ENST00000579916:exon4:c.C120G:p.G40G;ENSG00000166960:ENST00000577766:exon5:c.C120G:p.G40G;ENSG00000166960:ENST00000383096:exon5:c.C120G:p.G40G;ENSG00000166960:ENST00000300227:exon5:c.C120G:p.G40G;ENSG00000166960:ENST00000399177:exon4:c.C120G:p.G40G;ENSG00000166960:ENST00000403303:exon4:c.C120G:p.G40G;ENSG00000166960:ENST00000579947:exon5:c.C120G:p.G40G;	1.20216290008404E-5	0.0
18	30969592	G	T	18	33389628	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon4:c.C120A:p.G40G;CCDC178:NM_198995:exon5:c.C120A:p.G40G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.C120A:p.G40G;ENSG00000166960:ENST00000402325:exon3:c.C120A:p.G40G;ENSG00000166960:ENST00000583930:exon4:c.C120A:p.G40G;ENSG00000166960:ENST00000579916:exon4:c.C120A:p.G40G;ENSG00000166960:ENST00000577766:exon5:c.C120A:p.G40G;ENSG00000166960:ENST00000383096:exon5:c.C120A:p.G40G;ENSG00000166960:ENST00000300227:exon5:c.C120A:p.G40G;ENSG00000166960:ENST00000399177:exon4:c.C120A:p.G40G;ENSG00000166960:ENST00000403303:exon4:c.C120A:p.G40G;ENSG00000166960:ENST00000579947:exon5:c.C120A:p.G40G;	2.5731840616074E-4	0.094
18	30969593	C	A	18	33389629	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.G119T:p.G40V;CCDC178:NM_198995:exon5:c.G119T:p.G40V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.G119T:p.G40V;ENSG00000166960:ENST00000402325:exon3:c.G119T:p.G40V;ENSG00000166960:ENST00000583930:exon4:c.G119T:p.G40V;ENSG00000166960:ENST00000579916:exon4:c.G119T:p.G40V;ENSG00000166960:ENST00000577766:exon5:c.G119T:p.G40V;ENSG00000166960:ENST00000383096:exon5:c.G119T:p.G40V;ENSG00000166960:ENST00000300227:exon5:c.G119T:p.G40V;ENSG00000166960:ENST00000399177:exon4:c.G119T:p.G40V;ENSG00000166960:ENST00000403303:exon4:c.G119T:p.G40V;ENSG00000166960:ENST00000579947:exon5:c.G119T:p.G40V;	0.0193001138746868	0.224
18	30969593	C	G	18	33389629	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.G119C:p.G40A;CCDC178:NM_198995:exon5:c.G119C:p.G40A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.G119C:p.G40A;ENSG00000166960:ENST00000402325:exon3:c.G119C:p.G40A;ENSG00000166960:ENST00000583930:exon4:c.G119C:p.G40A;ENSG00000166960:ENST00000579916:exon4:c.G119C:p.G40A;ENSG00000166960:ENST00000577766:exon5:c.G119C:p.G40A;ENSG00000166960:ENST00000383096:exon5:c.G119C:p.G40A;ENSG00000166960:ENST00000300227:exon5:c.G119C:p.G40A;ENSG00000166960:ENST00000399177:exon4:c.G119C:p.G40A;ENSG00000166960:ENST00000403303:exon4:c.G119C:p.G40A;ENSG00000166960:ENST00000579947:exon5:c.G119C:p.G40A;	8.26879773916769E-4	0.148
18	30969593	C	T	18	33389629	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon4:c.G119A:p.G40D;CCDC178:NM_198995:exon5:c.G119A:p.G40D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon3:c.G119A:p.G40D;ENSG00000166960:ENST00000402325:exon3:c.G119A:p.G40D;ENSG00000166960:ENST00000583930:exon4:c.G119A:p.G40D;ENSG00000166960:ENST00000579916:exon4:c.G119A:p.G40D;ENSG00000166960:ENST00000577766:exon5:c.G119A:p.G40D;ENSG00000166960:ENST00000383096:exon5:c.G119A:p.G40D;ENSG00000166960:ENST00000300227:exon5:c.G119A:p.G40D;ENSG00000166960:ENST00000399177:exon4:c.G119A:p.G40D;ENSG00000166960:ENST00000403303:exon4:c.G119A:p.G40D;ENSG00000166960:ENST00000579947:exon5:c.G119A:p.G40D;	7.52382313751544E-4	0.08
18	30969594	C	A	18	33389630	y	y	splicing	CCDC178(NM_001105528:exon5:c.119-1G>T;NM_198995:exon6:c.119-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.119-1G>T;ENST00000383096:exon6:c.119-1G>T;ENST00000300227:exon6:c.119-1G>T;ENST00000579916:exon5:c.119-1G>T;ENST00000406524:exon4:c.119-1G>T;ENST00000583930:exon5:c.119-1G>T;ENST00000402325:exon4:c.119-1G>T;ENST00000579947:exon6:c.119-1G>T;ENST00000399177:exon5:c.119-1G>T;ENST00000577766:exon6:c.119-1G>T)	.	.	0.999982408027741	0.802
18	30969594	C	G	18	33389630	y	y	splicing	CCDC178(NM_001105528:exon5:c.119-1G>C;NM_198995:exon6:c.119-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.119-1G>C;ENST00000383096:exon6:c.119-1G>C;ENST00000300227:exon6:c.119-1G>C;ENST00000579916:exon5:c.119-1G>C;ENST00000406524:exon4:c.119-1G>C;ENST00000583930:exon5:c.119-1G>C;ENST00000402325:exon4:c.119-1G>C;ENST00000579947:exon6:c.119-1G>C;ENST00000399177:exon5:c.119-1G>C;ENST00000577766:exon6:c.119-1G>C)	.	.	0.999982408027741	0.772
18	30969594	C	T	18	33389630	y	y	splicing	CCDC178(NM_001105528:exon5:c.119-1G>A;NM_198995:exon6:c.119-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.119-1G>A;ENST00000383096:exon6:c.119-1G>A;ENST00000300227:exon6:c.119-1G>A;ENST00000579916:exon5:c.119-1G>A;ENST00000406524:exon4:c.119-1G>A;ENST00000583930:exon5:c.119-1G>A;ENST00000402325:exon4:c.119-1G>A;ENST00000579947:exon6:c.119-1G>A;ENST00000399177:exon5:c.119-1G>A;ENST00000577766:exon6:c.119-1G>A)	.	.	0.999982408027741	0.816
18	30969595	T	A	18	33389631	y	y	splicing	CCDC178(NM_001105528:exon5:c.119-2A>T;NM_198995:exon6:c.119-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.119-2A>T;ENST00000383096:exon6:c.119-2A>T;ENST00000300227:exon6:c.119-2A>T;ENST00000579916:exon5:c.119-2A>T;ENST00000406524:exon4:c.119-2A>T;ENST00000583930:exon5:c.119-2A>T;ENST00000402325:exon4:c.119-2A>T;ENST00000579947:exon6:c.119-2A>T;ENST00000399177:exon5:c.119-2A>T;ENST00000577766:exon6:c.119-2A>T)	.	.	0.999970890420065	0.818
18	30969595	T	C	18	33389631	y	y	splicing	CCDC178(NM_001105528:exon5:c.119-2A>G;NM_198995:exon6:c.119-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.119-2A>G;ENST00000383096:exon6:c.119-2A>G;ENST00000300227:exon6:c.119-2A>G;ENST00000579916:exon5:c.119-2A>G;ENST00000406524:exon4:c.119-2A>G;ENST00000583930:exon5:c.119-2A>G;ENST00000402325:exon4:c.119-2A>G;ENST00000579947:exon6:c.119-2A>G;ENST00000399177:exon5:c.119-2A>G;ENST00000577766:exon6:c.119-2A>G)	.	.	0.999984483665306	0.808
18	30969595	T	G	18	33389631	y	y	splicing	CCDC178(NM_001105528:exon5:c.119-2A>C;NM_198995:exon6:c.119-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon5:c.119-2A>C;ENST00000383096:exon6:c.119-2A>C;ENST00000300227:exon6:c.119-2A>C;ENST00000579916:exon5:c.119-2A>C;ENST00000406524:exon4:c.119-2A>C;ENST00000583930:exon5:c.119-2A>C;ENST00000402325:exon4:c.119-2A>C;ENST00000579947:exon6:c.119-2A>C;ENST00000399177:exon5:c.119-2A>C;ENST00000577766:exon6:c.119-2A>C)	.	.	0.999984483665306	0.808
18	30969596	T	A	18	33389632	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.17582382638172E-4	0.03
18	30969596	T	C	18	33389632	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.787579546487422	0.604
18	30969596	T	G	18	33389632	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.00256901765084E-4	0.106
18	30969597	T	A	18	33389633	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.20324428522691E-4	0.014
18	30969597	T	C	18	33389633	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998065854685949	0.97
18	30969597	T	G	18	33389633	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.69557151543713E-5	0.006
18	30969598	T	A	18	33389634	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.05553213193938E-5	0.0
18	30969598	T	C	18	33389634	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.75297485414114E-4	0.01
18	30969598	T	G	18	33389634	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.98865059929928E-6	0.0
18	30969599	A	C	18	33389635	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00234451387985044	0.176
18	30969599	A	G	18	33389635	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.45171600849554E-5	0.0
18	30969599	A	T	18	33389635	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00153272522562625	0.118
18	30969600	A	C	18	33389636	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0525084417447027	0.15
18	30969600	A	G	18	33389636	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00100046798504756	0.036
18	30969600	A	T	18	33389636	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0362014999006849	0.15
18	30969601	A	C	18	33389637	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0151018889624888	0.154
18	30969601	A	G	18	33389637	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.2520224903527E-4	0.016
18	30969601	A	T	18	33389637	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0118330434737473	0.158
18	30969602	A	C	18	33389638	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00594397628468156	0.108
18	30969602	A	G	18	33389638	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.76869072860464E-4	0.084
18	30969602	A	T	18	33389638	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00171948523220695	0.13
18	30969603	A	C	18	33389639	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00163259513642068	0.116
18	30969603	A	G	18	33389639	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.14034486865214E-4	0.036
18	30969603	A	T	18	33389639	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.35700176295249E-4	0.126
18	30969604	G	A	18	33389640	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.51829534966627E-5	0.0
18	30969604	G	C	18	33389640	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.1868024996617E-4	0.034
18	30969604	G	T	18	33389640	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.87437866646836E-4	0.046
18	30969605	A	C	18	33389641	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.101840809643549	0.328
18	30969605	A	G	18	33389641	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00181856287595312	0.042
18	30969605	A	T	18	33389641	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0183090243842913	0.348
18	30977105	T	A	18	33397141	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.88412246316557E-4	0.1
18	30977105	T	C	18	33397141	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.68028863784635E-4	0.01
18	30977105	T	G	18	33397141	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.12256043658115E-4	0.014
18	30977106	T	A	18	33397142	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.01470182084218E-4	0.032
18	30977106	T	C	18	33397142	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.47348756796826E-5	0.0
18	30977106	T	G	18	33397142	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.81104709051921E-5	0.0
18	30977107	G	A	18	33397143	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.96987600532023E-5	0.016
18	30977107	G	C	18	33397143	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.96601910085653E-5	0.044
18	30977107	G	T	18	33397143	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.35466682247533E-5	0.042
18	30977108	G	A	18	33397144	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.05382794580299E-4	0.03
18	30977108	G	C	18	33397144	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.53475121309448E-5	0.004
18	30977108	G	T	18	33397144	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.02206889682705E-5	0.004
18	30977109	A	C	18	33397145	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.53673640891526E-5	0.002
18	30977109	A	G	18	33397145	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.69606067972571E-5	0.006
18	30977109	A	T	18	33397145	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.57469869195362E-5	0.018
18	30977110	T	A	18	33397146	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999959719154326	0.866
18	30977110	T	C	18	33397146	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.997324032593405	0.724
18	30977110	T	G	18	33397146	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999948333612113	0.836
18	30977111	A	C	18	33397147	y	y	splicing	CCDC178(NM_001105528:exon4:c.118+2T>G;NM_198995:exon5:c.118+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.118+2T>G;ENST00000383096:exon5:c.118+2T>G;ENST00000300227:exon5:c.118+2T>G;ENST00000579916:exon4:c.118+2T>G;ENST00000406524:exon3:c.118+2T>G;ENST00000583930:exon4:c.118+2T>G;ENST00000402325:exon3:c.118+2T>G;ENST00000579947:exon5:c.118+2T>G;ENST00000399177:exon4:c.118+2T>G;ENST00000577766:exon5:c.118+2T>G)	.	.	0.999974353892859	0.77
18	30977111	A	G	18	33397147	y	y	splicing	CCDC178(NM_001105528:exon4:c.118+2T>C;NM_198995:exon5:c.118+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.118+2T>C;ENST00000383096:exon5:c.118+2T>C;ENST00000300227:exon5:c.118+2T>C;ENST00000579916:exon4:c.118+2T>C;ENST00000406524:exon3:c.118+2T>C;ENST00000583930:exon4:c.118+2T>C;ENST00000402325:exon3:c.118+2T>C;ENST00000579947:exon5:c.118+2T>C;ENST00000399177:exon4:c.118+2T>C;ENST00000577766:exon5:c.118+2T>C)	.	.	0.903607547073573	0.472
18	30977111	A	T	18	33397147	y	y	splicing	CCDC178(NM_001105528:exon4:c.118+2T>A;NM_198995:exon5:c.118+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.118+2T>A;ENST00000383096:exon5:c.118+2T>A;ENST00000300227:exon5:c.118+2T>A;ENST00000579916:exon4:c.118+2T>A;ENST00000406524:exon3:c.118+2T>A;ENST00000583930:exon4:c.118+2T>A;ENST00000402325:exon3:c.118+2T>A;ENST00000579947:exon5:c.118+2T>A;ENST00000399177:exon4:c.118+2T>A;ENST00000577766:exon5:c.118+2T>A)	.	.	0.99996887213458	0.77
18	30977112	C	A	18	33397148	y	y	splicing	CCDC178(NM_001105528:exon4:c.118+1G>T;NM_198995:exon5:c.118+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.118+1G>T;ENST00000383096:exon5:c.118+1G>T;ENST00000300227:exon5:c.118+1G>T;ENST00000579916:exon4:c.118+1G>T;ENST00000406524:exon3:c.118+1G>T;ENST00000583930:exon4:c.118+1G>T;ENST00000402325:exon3:c.118+1G>T;ENST00000579947:exon5:c.118+1G>T;ENST00000399177:exon4:c.118+1G>T;ENST00000577766:exon5:c.118+1G>T)	.	.	0.999987958061382	0.774
18	30977112	C	G	18	33397148	y	y	splicing	CCDC178(NM_001105528:exon4:c.118+1G>C;NM_198995:exon5:c.118+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.118+1G>C;ENST00000383096:exon5:c.118+1G>C;ENST00000300227:exon5:c.118+1G>C;ENST00000579916:exon4:c.118+1G>C;ENST00000406524:exon3:c.118+1G>C;ENST00000583930:exon4:c.118+1G>C;ENST00000402325:exon3:c.118+1G>C;ENST00000579947:exon5:c.118+1G>C;ENST00000399177:exon4:c.118+1G>C;ENST00000577766:exon5:c.118+1G>C)	.	.	0.999987958061382	0.778
18	30977112	C	T	18	33397148	y	y	splicing	CCDC178(NM_001105528:exon4:c.118+1G>A;NM_198995:exon5:c.118+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.118+1G>A;ENST00000383096:exon5:c.118+1G>A;ENST00000300227:exon5:c.118+1G>A;ENST00000579916:exon4:c.118+1G>A;ENST00000406524:exon3:c.118+1G>A;ENST00000583930:exon4:c.118+1G>A;ENST00000402325:exon3:c.118+1G>A;ENST00000579947:exon5:c.118+1G>A;ENST00000399177:exon4:c.118+1G>A;ENST00000577766:exon5:c.118+1G>A)	.	.	0.999987958061382	0.774
18	30977113	C	A	18	33397149	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.G118T:p.G40C;CCDC178:NM_198995:exon4:c.G118T:p.G40C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.G118T:p.G40C;ENSG00000166960:ENST00000402325:exon2:c.G118T:p.G40C;ENSG00000166960:ENST00000583930:exon3:c.G118T:p.G40C;ENSG00000166960:ENST00000579916:exon3:c.G118T:p.G40C;ENSG00000166960:ENST00000577766:exon4:c.G118T:p.G40C;ENSG00000166960:ENST00000383096:exon4:c.G118T:p.G40C;ENSG00000166960:ENST00000300227:exon4:c.G118T:p.G40C;ENSG00000166960:ENST00000399177:exon3:c.G118T:p.G40C;ENSG00000166960:ENST00000403303:exon3:c.G118T:p.G40C;ENSG00000166960:ENST00000579947:exon4:c.G118T:p.G40C;	0.999889549643988	0.918
18	30977113	C	G	18	33397149	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.G118C:p.G40R;CCDC178:NM_198995:exon4:c.G118C:p.G40R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.G118C:p.G40R;ENSG00000166960:ENST00000402325:exon2:c.G118C:p.G40R;ENSG00000166960:ENST00000583930:exon3:c.G118C:p.G40R;ENSG00000166960:ENST00000579916:exon3:c.G118C:p.G40R;ENSG00000166960:ENST00000577766:exon4:c.G118C:p.G40R;ENSG00000166960:ENST00000383096:exon4:c.G118C:p.G40R;ENSG00000166960:ENST00000300227:exon4:c.G118C:p.G40R;ENSG00000166960:ENST00000399177:exon3:c.G118C:p.G40R;ENSG00000166960:ENST00000403303:exon3:c.G118C:p.G40R;ENSG00000166960:ENST00000579947:exon4:c.G118C:p.G40R;	0.999982507252427	0.95
18	30977113	C	T	18	33397149	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.G118A:p.G40S;CCDC178:NM_198995:exon4:c.G118A:p.G40S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.G118A:p.G40S;ENSG00000166960:ENST00000402325:exon2:c.G118A:p.G40S;ENSG00000166960:ENST00000583930:exon3:c.G118A:p.G40S;ENSG00000166960:ENST00000579916:exon3:c.G118A:p.G40S;ENSG00000166960:ENST00000577766:exon4:c.G118A:p.G40S;ENSG00000166960:ENST00000383096:exon4:c.G118A:p.G40S;ENSG00000166960:ENST00000300227:exon4:c.G118A:p.G40S;ENSG00000166960:ENST00000399177:exon3:c.G118A:p.G40S;ENSG00000166960:ENST00000403303:exon3:c.G118A:p.G40S;ENSG00000166960:ENST00000579947:exon4:c.G118A:p.G40S;	0.999983831364848	0.972
18	30977114	T	A	18	33397150	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.A117T:p.E39D;CCDC178:NM_198995:exon4:c.A117T:p.E39D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.A117T:p.E39D;ENSG00000166960:ENST00000402325:exon2:c.A117T:p.E39D;ENSG00000166960:ENST00000583930:exon3:c.A117T:p.E39D;ENSG00000166960:ENST00000579916:exon3:c.A117T:p.E39D;ENSG00000166960:ENST00000577766:exon4:c.A117T:p.E39D;ENSG00000166960:ENST00000383096:exon4:c.A117T:p.E39D;ENSG00000166960:ENST00000300227:exon4:c.A117T:p.E39D;ENSG00000166960:ENST00000399177:exon3:c.A117T:p.E39D;ENSG00000166960:ENST00000403303:exon3:c.A117T:p.E39D;ENSG00000166960:ENST00000579947:exon4:c.A117T:p.E39D;	0.99869654376061	0.972
18	30977114	T	C	18	33397150	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon3:c.A117G:p.E39E;CCDC178:NM_198995:exon4:c.A117G:p.E39E;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.A117G:p.E39E;ENSG00000166960:ENST00000402325:exon2:c.A117G:p.E39E;ENSG00000166960:ENST00000583930:exon3:c.A117G:p.E39E;ENSG00000166960:ENST00000579916:exon3:c.A117G:p.E39E;ENSG00000166960:ENST00000577766:exon4:c.A117G:p.E39E;ENSG00000166960:ENST00000383096:exon4:c.A117G:p.E39E;ENSG00000166960:ENST00000300227:exon4:c.A117G:p.E39E;ENSG00000166960:ENST00000399177:exon3:c.A117G:p.E39E;ENSG00000166960:ENST00000403303:exon3:c.A117G:p.E39E;ENSG00000166960:ENST00000579947:exon4:c.A117G:p.E39E;	0.994608322981954	0.892
18	30977114	T	G	18	33397150	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.A117C:p.E39D;CCDC178:NM_198995:exon4:c.A117C:p.E39D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.A117C:p.E39D;ENSG00000166960:ENST00000402325:exon2:c.A117C:p.E39D;ENSG00000166960:ENST00000583930:exon3:c.A117C:p.E39D;ENSG00000166960:ENST00000579916:exon3:c.A117C:p.E39D;ENSG00000166960:ENST00000577766:exon4:c.A117C:p.E39D;ENSG00000166960:ENST00000383096:exon4:c.A117C:p.E39D;ENSG00000166960:ENST00000300227:exon4:c.A117C:p.E39D;ENSG00000166960:ENST00000399177:exon3:c.A117C:p.E39D;ENSG00000166960:ENST00000403303:exon3:c.A117C:p.E39D;ENSG00000166960:ENST00000579947:exon4:c.A117C:p.E39D;	0.995415615057073	0.924
18	30977115	T	A	18	33397151	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.A116T:p.E39V;CCDC178:NM_198995:exon4:c.A116T:p.E39V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.A116T:p.E39V;ENSG00000166960:ENST00000402325:exon2:c.A116T:p.E39V;ENSG00000166960:ENST00000583930:exon3:c.A116T:p.E39V;ENSG00000166960:ENST00000579916:exon3:c.A116T:p.E39V;ENSG00000166960:ENST00000577766:exon4:c.A116T:p.E39V;ENSG00000166960:ENST00000383096:exon4:c.A116T:p.E39V;ENSG00000166960:ENST00000300227:exon4:c.A116T:p.E39V;ENSG00000166960:ENST00000399177:exon3:c.A116T:p.E39V;ENSG00000166960:ENST00000403303:exon3:c.A116T:p.E39V;ENSG00000166960:ENST00000579947:exon4:c.A116T:p.E39V;	0.0361038385197396	0.404
18	30977115	T	C	18	33397151	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.A116G:p.E39G;CCDC178:NM_198995:exon4:c.A116G:p.E39G;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.A116G:p.E39G;ENSG00000166960:ENST00000402325:exon2:c.A116G:p.E39G;ENSG00000166960:ENST00000583930:exon3:c.A116G:p.E39G;ENSG00000166960:ENST00000579916:exon3:c.A116G:p.E39G;ENSG00000166960:ENST00000577766:exon4:c.A116G:p.E39G;ENSG00000166960:ENST00000383096:exon4:c.A116G:p.E39G;ENSG00000166960:ENST00000300227:exon4:c.A116G:p.E39G;ENSG00000166960:ENST00000399177:exon3:c.A116G:p.E39G;ENSG00000166960:ENST00000403303:exon3:c.A116G:p.E39G;ENSG00000166960:ENST00000579947:exon4:c.A116G:p.E39G;	6.46909163143058E-4	0.02
18	30977115	T	G	18	33397151	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.A116C:p.E39A;CCDC178:NM_198995:exon4:c.A116C:p.E39A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.A116C:p.E39A;ENSG00000166960:ENST00000402325:exon2:c.A116C:p.E39A;ENSG00000166960:ENST00000583930:exon3:c.A116C:p.E39A;ENSG00000166960:ENST00000579916:exon3:c.A116C:p.E39A;ENSG00000166960:ENST00000577766:exon4:c.A116C:p.E39A;ENSG00000166960:ENST00000383096:exon4:c.A116C:p.E39A;ENSG00000166960:ENST00000300227:exon4:c.A116C:p.E39A;ENSG00000166960:ENST00000399177:exon3:c.A116C:p.E39A;ENSG00000166960:ENST00000403303:exon3:c.A116C:p.E39A;ENSG00000166960:ENST00000579947:exon4:c.A116C:p.E39A;	1.81660547812842E-5	0.0
18	30977171	A	C	18	33397207	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon3:c.T60G:p.G20G;CCDC178:NM_198995:exon4:c.T60G:p.G20G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.T60G:p.G20G;ENSG00000166960:ENST00000402325:exon2:c.T60G:p.G20G;ENSG00000166960:ENST00000583930:exon3:c.T60G:p.G20G;ENSG00000166960:ENST00000579916:exon3:c.T60G:p.G20G;ENSG00000166960:ENST00000577766:exon4:c.T60G:p.G20G;ENSG00000166960:ENST00000383096:exon4:c.T60G:p.G20G;ENSG00000166960:ENST00000300227:exon4:c.T60G:p.G20G;ENSG00000166960:ENST00000399177:exon3:c.T60G:p.G20G;ENSG00000166960:ENST00000403303:exon3:c.T60G:p.G20G;ENSG00000166960:ENST00000579947:exon4:c.T60G:p.G20G;	4.21173949420797E-5	0.002
18	30977171	A	G	18	33397207	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon3:c.T60C:p.G20G;CCDC178:NM_198995:exon4:c.T60C:p.G20G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.T60C:p.G20G;ENSG00000166960:ENST00000402325:exon2:c.T60C:p.G20G;ENSG00000166960:ENST00000583930:exon3:c.T60C:p.G20G;ENSG00000166960:ENST00000579916:exon3:c.T60C:p.G20G;ENSG00000166960:ENST00000577766:exon4:c.T60C:p.G20G;ENSG00000166960:ENST00000383096:exon4:c.T60C:p.G20G;ENSG00000166960:ENST00000300227:exon4:c.T60C:p.G20G;ENSG00000166960:ENST00000399177:exon3:c.T60C:p.G20G;ENSG00000166960:ENST00000403303:exon3:c.T60C:p.G20G;ENSG00000166960:ENST00000579947:exon4:c.T60C:p.G20G;	8.79868898500415E-5	0.004
18	30977171	A	T	18	33397207	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon3:c.T60A:p.G20G;CCDC178:NM_198995:exon4:c.T60A:p.G20G;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.T60A:p.G20G;ENSG00000166960:ENST00000402325:exon2:c.T60A:p.G20G;ENSG00000166960:ENST00000583930:exon3:c.T60A:p.G20G;ENSG00000166960:ENST00000579916:exon3:c.T60A:p.G20G;ENSG00000166960:ENST00000577766:exon4:c.T60A:p.G20G;ENSG00000166960:ENST00000383096:exon4:c.T60A:p.G20G;ENSG00000166960:ENST00000300227:exon4:c.T60A:p.G20G;ENSG00000166960:ENST00000399177:exon3:c.T60A:p.G20G;ENSG00000166960:ENST00000403303:exon3:c.T60A:p.G20G;ENSG00000166960:ENST00000579947:exon4:c.T60A:p.G20G;	1.10356614716379E-4	0.002
18	30977172	C	A	18	33397208	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.G59T:p.G20V;CCDC178:NM_198995:exon4:c.G59T:p.G20V;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.G59T:p.G20V;ENSG00000166960:ENST00000402325:exon2:c.G59T:p.G20V;ENSG00000166960:ENST00000583930:exon3:c.G59T:p.G20V;ENSG00000166960:ENST00000579916:exon3:c.G59T:p.G20V;ENSG00000166960:ENST00000577766:exon4:c.G59T:p.G20V;ENSG00000166960:ENST00000383096:exon4:c.G59T:p.G20V;ENSG00000166960:ENST00000300227:exon4:c.G59T:p.G20V;ENSG00000166960:ENST00000399177:exon3:c.G59T:p.G20V;ENSG00000166960:ENST00000403303:exon3:c.G59T:p.G20V;ENSG00000166960:ENST00000579947:exon4:c.G59T:p.G20V;	0.036585535084604	0.376
18	30977172	C	G	18	33397208	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.G59C:p.G20A;CCDC178:NM_198995:exon4:c.G59C:p.G20A;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.G59C:p.G20A;ENSG00000166960:ENST00000402325:exon2:c.G59C:p.G20A;ENSG00000166960:ENST00000583930:exon3:c.G59C:p.G20A;ENSG00000166960:ENST00000579916:exon3:c.G59C:p.G20A;ENSG00000166960:ENST00000577766:exon4:c.G59C:p.G20A;ENSG00000166960:ENST00000383096:exon4:c.G59C:p.G20A;ENSG00000166960:ENST00000300227:exon4:c.G59C:p.G20A;ENSG00000166960:ENST00000399177:exon3:c.G59C:p.G20A;ENSG00000166960:ENST00000403303:exon3:c.G59C:p.G20A;ENSG00000166960:ENST00000579947:exon4:c.G59C:p.G20A;	0.00148255953386333	0.29
18	30977172	C	T	18	33397208	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon3:c.G59A:p.G20D;CCDC178:NM_198995:exon4:c.G59A:p.G20D;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon2:c.G59A:p.G20D;ENSG00000166960:ENST00000402325:exon2:c.G59A:p.G20D;ENSG00000166960:ENST00000583930:exon3:c.G59A:p.G20D;ENSG00000166960:ENST00000579916:exon3:c.G59A:p.G20D;ENSG00000166960:ENST00000577766:exon4:c.G59A:p.G20D;ENSG00000166960:ENST00000383096:exon4:c.G59A:p.G20D;ENSG00000166960:ENST00000300227:exon4:c.G59A:p.G20D;ENSG00000166960:ENST00000399177:exon3:c.G59A:p.G20D;ENSG00000166960:ENST00000403303:exon3:c.G59A:p.G20D;ENSG00000166960:ENST00000579947:exon4:c.G59A:p.G20D;	2.4482216836732E-4	0.12
18	30977173	C	A	18	33397209	y	y	splicing	CCDC178(NM_001105528:exon4:c.59-1G>T;NM_198995:exon5:c.59-1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.59-1G>T;ENST00000383096:exon5:c.59-1G>T;ENST00000300227:exon5:c.59-1G>T;ENST00000579916:exon4:c.59-1G>T;ENST00000406524:exon3:c.59-1G>T;ENST00000583930:exon4:c.59-1G>T;ENST00000402325:exon3:c.59-1G>T;ENST00000579947:exon5:c.59-1G>T;ENST00000399177:exon4:c.59-1G>T;ENST00000577766:exon5:c.59-1G>T)	.	.	0.999987958061382	0.766
18	30977173	C	G	18	33397209	y	y	splicing	CCDC178(NM_001105528:exon4:c.59-1G>C;NM_198995:exon5:c.59-1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.59-1G>C;ENST00000383096:exon5:c.59-1G>C;ENST00000300227:exon5:c.59-1G>C;ENST00000579916:exon4:c.59-1G>C;ENST00000406524:exon3:c.59-1G>C;ENST00000583930:exon4:c.59-1G>C;ENST00000402325:exon3:c.59-1G>C;ENST00000579947:exon5:c.59-1G>C;ENST00000399177:exon4:c.59-1G>C;ENST00000577766:exon5:c.59-1G>C)	.	.	0.999987958061382	0.766
18	30977173	C	T	18	33397209	y	y	splicing	CCDC178(NM_001105528:exon4:c.59-1G>A;NM_198995:exon5:c.59-1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.59-1G>A;ENST00000383096:exon5:c.59-1G>A;ENST00000300227:exon5:c.59-1G>A;ENST00000579916:exon4:c.59-1G>A;ENST00000406524:exon3:c.59-1G>A;ENST00000583930:exon4:c.59-1G>A;ENST00000402325:exon3:c.59-1G>A;ENST00000579947:exon5:c.59-1G>A;ENST00000399177:exon4:c.59-1G>A;ENST00000577766:exon5:c.59-1G>A)	.	.	0.999987958061382	0.766
18	30977174	T	A	18	33397210	y	y	splicing	CCDC178(NM_001105528:exon4:c.59-2A>T;NM_198995:exon5:c.59-2A>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.59-2A>T;ENST00000383096:exon5:c.59-2A>T;ENST00000300227:exon5:c.59-2A>T;ENST00000579916:exon4:c.59-2A>T;ENST00000406524:exon3:c.59-2A>T;ENST00000583930:exon4:c.59-2A>T;ENST00000402325:exon3:c.59-2A>T;ENST00000579947:exon5:c.59-2A>T;ENST00000399177:exon4:c.59-2A>T;ENST00000577766:exon5:c.59-2A>T)	.	.	0.99996887213458	0.754
18	30977174	T	C	18	33397210	y	y	splicing	CCDC178(NM_001105528:exon4:c.59-2A>G;NM_198995:exon5:c.59-2A>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.59-2A>G;ENST00000383096:exon5:c.59-2A>G;ENST00000300227:exon5:c.59-2A>G;ENST00000579916:exon4:c.59-2A>G;ENST00000406524:exon3:c.59-2A>G;ENST00000583930:exon4:c.59-2A>G;ENST00000402325:exon3:c.59-2A>G;ENST00000579947:exon5:c.59-2A>G;ENST00000399177:exon4:c.59-2A>G;ENST00000577766:exon5:c.59-2A>G)	.	.	0.99996887213458	0.758
18	30977174	T	G	18	33397210	y	y	splicing	CCDC178(NM_001105528:exon4:c.59-2A>C;NM_198995:exon5:c.59-2A>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon4:c.59-2A>C;ENST00000383096:exon5:c.59-2A>C;ENST00000300227:exon5:c.59-2A>C;ENST00000579916:exon4:c.59-2A>C;ENST00000406524:exon3:c.59-2A>C;ENST00000583930:exon4:c.59-2A>C;ENST00000402325:exon3:c.59-2A>C;ENST00000579947:exon5:c.59-2A>C;ENST00000399177:exon4:c.59-2A>C;ENST00000577766:exon5:c.59-2A>C)	.	.	0.99996887213458	0.756
18	30977175	A	C	18	33397211	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.871400065587671	0.504
18	30977175	A	G	18	33397211	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.72099755845144E-5	0.01
18	30977175	A	T	18	33397211	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.860517444484E-4	0.024
18	30977176	T	A	18	33397212	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.88235376882228E-5	0.004
18	30977176	T	C	18	33397212	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.70988426750424E-5	0.0
18	30977176	T	G	18	33397212	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.56578338585653E-5	0.004
18	30977177	A	C	18	33397213	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.22643528607655E-4	0.174
18	30977177	A	G	18	33397213	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.73799182825777E-4	0.018
18	30977177	A	T	18	33397213	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.35537887627391E-4	0.134
18	30977178	A	C	18	33397214	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.43906640771351E-4	0.096
18	30977178	A	G	18	33397214	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.30532805397759E-4	0.004
18	30977178	A	T	18	33397214	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.06793922034236E-4	0.08
18	30977179	A	C	18	33397215	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.95278163851492E-5	0.028
18	30977179	A	G	18	33397215	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.89051087523645E-6	0.002
18	30977179	A	T	18	33397215	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.58891061431816E-5	0.012
18	30977180	A	C	18	33397216	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.81903427821573E-4	0.074
18	30977180	A	G	18	33397216	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.04462930163639E-4	0.026
18	30977180	A	T	18	33397216	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.58010406524569E-4	0.064
18	30977181	G	A	18	33397217	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.7254263394105E-5	0.002
18	30977181	G	C	18	33397217	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.12726201721921E-5	0.04
18	30977181	G	T	18	33397217	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.06808398253381E-4	0.036
18	30977182	G	A	18	33397218	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.87030353927265E-5	0.0
18	30977182	G	C	18	33397218	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998953168422491	0.97
18	30977182	G	T	18	33397218	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.51210527888255E-5	0.018
18	30977183	T	A	18	33397219	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.96136599823057E-5	0.062
18	30977183	T	C	18	33397219	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.32913315025573E-5	0.0
18	30977183	T	G	18	33397219	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.2726283130427E-5	0.008
18	30977184	A	C	18	33397220	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.11416980585924E-4	0.194
18	30977184	A	G	18	33397220	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.76361284688507E-4	0.028
18	30977184	A	T	18	33397220	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.17110955688541E-4	0.206
18	30991987	A	C	18	33412023	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.9469183429777E-5	0.0
18	30991987	A	G	18	33412023	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.9469183429777E-5	0.0
18	30991987	A	T	18	33412023	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.9469183429777E-5	0.0
18	30991988	A	C	18	33412024	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.23699594804022E-4	0.01
18	30991988	A	G	18	33412024	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.20859593029912E-4	0.008
18	30991988	A	T	18	33412024	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.23008612738095E-4	0.01
18	30991989	A	C	18	33412025	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.30059246400849E-4	0.142
18	30991989	A	G	18	33412025	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00388333059487833	0.188
18	30991989	A	T	18	33412025	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00661064190393895	0.162
18	30991990	C	A	18	33412026	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.667146360661692	0.43
18	30991990	C	G	18	33412026	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.820486890802972	0.456
18	30991990	C	T	18	33412026	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.832842393957732	0.502
18	30991991	T	A	18	33412027	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.500298158037246	0.43
18	30991991	T	C	18	33412027	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.758751229025084	0.418
18	30991991	T	G	18	33412027	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.381606803012773	0.48
18	30991992	T	A	18	33412028	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.97438869371158	0.598
18	30991992	T	C	18	33412028	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00108259162558879	0.058
18	30991992	T	G	18	33412028	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.964893660633101	0.612
18	30991993	A	C	18	33412029	y	y	splicing	CCDC178(NM_001105528:exon3:c.58+2T>G;NM_198995:exon4:c.58+2T>G)	.	.	splicing	ENSG00000166960(ENST00000403303:exon3:c.58+2T>G;ENST00000383096:exon4:c.58+2T>G;ENST00000300227:exon4:c.58+2T>G;ENST00000579916:exon3:c.58+2T>G;ENST00000406524:exon2:c.58+2T>G;ENST00000583930:exon3:c.58+2T>G;ENST00000402325:exon2:c.58+2T>G;ENST00000579947:exon4:c.58+2T>G;ENST00000399177:exon3:c.58+2T>G;ENST00000577766:exon4:c.58+2T>G)	.	.	0.999962958601995	0.84
18	30991993	A	G	18	33412029	y	y	splicing	CCDC178(NM_001105528:exon3:c.58+2T>C;NM_198995:exon4:c.58+2T>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon3:c.58+2T>C;ENST00000383096:exon4:c.58+2T>C;ENST00000300227:exon4:c.58+2T>C;ENST00000579916:exon3:c.58+2T>C;ENST00000406524:exon2:c.58+2T>C;ENST00000583930:exon3:c.58+2T>C;ENST00000402325:exon2:c.58+2T>C;ENST00000579947:exon4:c.58+2T>C;ENST00000399177:exon3:c.58+2T>C;ENST00000577766:exon4:c.58+2T>C)	.	.	0.907795098123227	0.574
18	30991993	A	T	18	33412029	y	y	splicing	CCDC178(NM_001105528:exon3:c.58+2T>A;NM_198995:exon4:c.58+2T>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon3:c.58+2T>A;ENST00000383096:exon4:c.58+2T>A;ENST00000300227:exon4:c.58+2T>A;ENST00000579916:exon3:c.58+2T>A;ENST00000406524:exon2:c.58+2T>A;ENST00000583930:exon3:c.58+2T>A;ENST00000402325:exon2:c.58+2T>A;ENST00000579947:exon4:c.58+2T>A;ENST00000399177:exon3:c.58+2T>A;ENST00000577766:exon4:c.58+2T>A)	.	.	0.999969255906173	0.846
18	30991994	C	A	18	33412030	y	y	splicing	CCDC178(NM_001105528:exon3:c.58+1G>T;NM_198995:exon4:c.58+1G>T)	.	.	splicing	ENSG00000166960(ENST00000403303:exon3:c.58+1G>T;ENST00000383096:exon4:c.58+1G>T;ENST00000300227:exon4:c.58+1G>T;ENST00000579916:exon3:c.58+1G>T;ENST00000406524:exon2:c.58+1G>T;ENST00000583930:exon3:c.58+1G>T;ENST00000402325:exon2:c.58+1G>T;ENST00000579947:exon4:c.58+1G>T;ENST00000399177:exon3:c.58+1G>T;ENST00000577766:exon4:c.58+1G>T)	.	.	0.999942513266374	0.812
18	30991994	C	G	18	33412030	y	y	splicing	CCDC178(NM_001105528:exon3:c.58+1G>C;NM_198995:exon4:c.58+1G>C)	.	.	splicing	ENSG00000166960(ENST00000403303:exon3:c.58+1G>C;ENST00000383096:exon4:c.58+1G>C;ENST00000300227:exon4:c.58+1G>C;ENST00000579916:exon3:c.58+1G>C;ENST00000406524:exon2:c.58+1G>C;ENST00000583930:exon3:c.58+1G>C;ENST00000402325:exon2:c.58+1G>C;ENST00000579947:exon4:c.58+1G>C;ENST00000399177:exon3:c.58+1G>C;ENST00000577766:exon4:c.58+1G>C)	.	.	0.999942513266374	0.808
18	30991994	C	T	18	33412030	y	y	splicing	CCDC178(NM_001105528:exon3:c.58+1G>A;NM_198995:exon4:c.58+1G>A)	.	.	splicing	ENSG00000166960(ENST00000403303:exon3:c.58+1G>A;ENST00000383096:exon4:c.58+1G>A;ENST00000300227:exon4:c.58+1G>A;ENST00000579916:exon3:c.58+1G>A;ENST00000406524:exon2:c.58+1G>A;ENST00000583930:exon3:c.58+1G>A;ENST00000402325:exon2:c.58+1G>A;ENST00000579947:exon4:c.58+1G>A;ENST00000399177:exon3:c.58+1G>A;ENST00000577766:exon4:c.58+1G>A)	.	.	0.999942513266374	0.844
18	30991995	C	A	18	33412031	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon2:c.G58T:p.G20C;CCDC178:NM_198995:exon3:c.G58T:p.G20C;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.G58T:p.G20C;ENSG00000166960:ENST00000402325:exon1:c.G58T:p.G20C;ENSG00000166960:ENST00000583930:exon2:c.G58T:p.G20C;ENSG00000166960:ENST00000579916:exon2:c.G58T:p.G20C;ENSG00000166960:ENST00000577766:exon3:c.G58T:p.G20C;ENSG00000166960:ENST00000383096:exon3:c.G58T:p.G20C;ENSG00000166960:ENST00000300227:exon3:c.G58T:p.G20C;ENSG00000166960:ENST00000399177:exon2:c.G58T:p.G20C;ENSG00000166960:ENST00000403303:exon2:c.G58T:p.G20C;ENSG00000166960:ENST00000579947:exon3:c.G58T:p.G20C;	0.517291658377096	0.482
18	30991995	C	G	18	33412031	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon2:c.G58C:p.G20R;CCDC178:NM_198995:exon3:c.G58C:p.G20R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.G58C:p.G20R;ENSG00000166960:ENST00000402325:exon1:c.G58C:p.G20R;ENSG00000166960:ENST00000583930:exon2:c.G58C:p.G20R;ENSG00000166960:ENST00000579916:exon2:c.G58C:p.G20R;ENSG00000166960:ENST00000577766:exon3:c.G58C:p.G20R;ENSG00000166960:ENST00000383096:exon3:c.G58C:p.G20R;ENSG00000166960:ENST00000300227:exon3:c.G58C:p.G20R;ENSG00000166960:ENST00000399177:exon2:c.G58C:p.G20R;ENSG00000166960:ENST00000403303:exon2:c.G58C:p.G20R;ENSG00000166960:ENST00000579947:exon3:c.G58C:p.G20R;	0.158536297755542	0.586
18	30991995	C	T	18	33412031	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon2:c.G58A:p.G20S;CCDC178:NM_198995:exon3:c.G58A:p.G20S;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.G58A:p.G20S;ENSG00000166960:ENST00000402325:exon1:c.G58A:p.G20S;ENSG00000166960:ENST00000583930:exon2:c.G58A:p.G20S;ENSG00000166960:ENST00000579916:exon2:c.G58A:p.G20S;ENSG00000166960:ENST00000577766:exon3:c.G58A:p.G20S;ENSG00000166960:ENST00000383096:exon3:c.G58A:p.G20S;ENSG00000166960:ENST00000300227:exon3:c.G58A:p.G20S;ENSG00000166960:ENST00000399177:exon2:c.G58A:p.G20S;ENSG00000166960:ENST00000403303:exon2:c.G58A:p.G20S;ENSG00000166960:ENST00000579947:exon3:c.G58A:p.G20S;	0.138699535495989	0.432
18	30991996	T	A	18	33412032	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon2:c.A57T:p.I19I;CCDC178:NM_198995:exon3:c.A57T:p.I19I;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.A57T:p.I19I;ENSG00000166960:ENST00000402325:exon1:c.A57T:p.I19I;ENSG00000166960:ENST00000583930:exon2:c.A57T:p.I19I;ENSG00000166960:ENST00000579916:exon2:c.A57T:p.I19I;ENSG00000166960:ENST00000577766:exon3:c.A57T:p.I19I;ENSG00000166960:ENST00000383096:exon3:c.A57T:p.I19I;ENSG00000166960:ENST00000300227:exon3:c.A57T:p.I19I;ENSG00000166960:ENST00000399177:exon2:c.A57T:p.I19I;ENSG00000166960:ENST00000403303:exon2:c.A57T:p.I19I;ENSG00000166960:ENST00000579947:exon3:c.A57T:p.I19I;	0.0225857139659949	0.348
18	30991996	T	C	18	33412032	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon2:c.A57G:p.I19M;CCDC178:NM_198995:exon3:c.A57G:p.I19M;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.A57G:p.I19M;ENSG00000166960:ENST00000402325:exon1:c.A57G:p.I19M;ENSG00000166960:ENST00000583930:exon2:c.A57G:p.I19M;ENSG00000166960:ENST00000579916:exon2:c.A57G:p.I19M;ENSG00000166960:ENST00000577766:exon3:c.A57G:p.I19M;ENSG00000166960:ENST00000383096:exon3:c.A57G:p.I19M;ENSG00000166960:ENST00000300227:exon3:c.A57G:p.I19M;ENSG00000166960:ENST00000399177:exon2:c.A57G:p.I19M;ENSG00000166960:ENST00000403303:exon2:c.A57G:p.I19M;ENSG00000166960:ENST00000579947:exon3:c.A57G:p.I19M;	0.0213308071134833	0.328
18	30991996	T	G	18	33412032	y	y	exonic	CCDC178	synonymous SNV	CCDC178:NM_001105528:exon2:c.A57C:p.I19I;CCDC178:NM_198995:exon3:c.A57C:p.I19I;	exonic	ENSG00000166960	synonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.A57C:p.I19I;ENSG00000166960:ENST00000402325:exon1:c.A57C:p.I19I;ENSG00000166960:ENST00000583930:exon2:c.A57C:p.I19I;ENSG00000166960:ENST00000579916:exon2:c.A57C:p.I19I;ENSG00000166960:ENST00000577766:exon3:c.A57C:p.I19I;ENSG00000166960:ENST00000383096:exon3:c.A57C:p.I19I;ENSG00000166960:ENST00000300227:exon3:c.A57C:p.I19I;ENSG00000166960:ENST00000399177:exon2:c.A57C:p.I19I;ENSG00000166960:ENST00000403303:exon2:c.A57C:p.I19I;ENSG00000166960:ENST00000579947:exon3:c.A57C:p.I19I;	0.0150899832567742	0.444
18	30991997	A	C	18	33412033	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon2:c.T56G:p.I19R;CCDC178:NM_198995:exon3:c.T56G:p.I19R;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.T56G:p.I19R;ENSG00000166960:ENST00000402325:exon1:c.T56G:p.I19R;ENSG00000166960:ENST00000583930:exon2:c.T56G:p.I19R;ENSG00000166960:ENST00000579916:exon2:c.T56G:p.I19R;ENSG00000166960:ENST00000577766:exon3:c.T56G:p.I19R;ENSG00000166960:ENST00000383096:exon3:c.T56G:p.I19R;ENSG00000166960:ENST00000300227:exon3:c.T56G:p.I19R;ENSG00000166960:ENST00000399177:exon2:c.T56G:p.I19R;ENSG00000166960:ENST00000403303:exon2:c.T56G:p.I19R;ENSG00000166960:ENST00000579947:exon3:c.T56G:p.I19R;	3.11766355335222E-5	0.006
18	30991997	A	G	18	33412033	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon2:c.T56C:p.I19T;CCDC178:NM_198995:exon3:c.T56C:p.I19T;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.T56C:p.I19T;ENSG00000166960:ENST00000402325:exon1:c.T56C:p.I19T;ENSG00000166960:ENST00000583930:exon2:c.T56C:p.I19T;ENSG00000166960:ENST00000579916:exon2:c.T56C:p.I19T;ENSG00000166960:ENST00000577766:exon3:c.T56C:p.I19T;ENSG00000166960:ENST00000383096:exon3:c.T56C:p.I19T;ENSG00000166960:ENST00000300227:exon3:c.T56C:p.I19T;ENSG00000166960:ENST00000399177:exon2:c.T56C:p.I19T;ENSG00000166960:ENST00000403303:exon2:c.T56C:p.I19T;ENSG00000166960:ENST00000579947:exon3:c.T56C:p.I19T;	1.65384719650273E-5	0.0
18	30991997	A	T	18	33412033	y	y	exonic	CCDC178	nonsynonymous SNV	CCDC178:NM_001105528:exon2:c.T56A:p.I19K;CCDC178:NM_198995:exon3:c.T56A:p.I19K;	exonic	ENSG00000166960	nonsynonymous SNV	ENSG00000166960:ENST00000406524:exon1:c.T56A:p.I19K;ENSG00000166960:ENST00000402325:exon1:c.T56A:p.I19K;ENSG00000166960:ENST00000583930:exon2:c.T56A:p.I19K;ENSG00000166960:ENST00000579916:exon2:c.T56A:p.I19K;ENSG00000166960:ENST00000577766:exon3:c.T56A:p.I19K;ENSG00000166960:ENST00000383096:exon3:c.T56A:p.I19K;ENSG00000166960:ENST00000300227:exon3:c.T56A:p.I19K;ENSG00000166960:ENST00000399177:exon2:c.T56A:p.I19K;ENSG00000166960:ENST00000403303:exon2:c.T56A:p.I19K;ENSG00000166960:ENST00000579947:exon3:c.T56A:p.I19K;	2.96674908985408E-5	0.0
18	30992073	A	C	18	33412109	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	1.09040681305448E-4	0.01
18	30992073	A	G	18	33412109	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	1.85016628951297E-4	0.012
18	30992073	A	T	18	33412109	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	1.32936158472057E-4	0.012
18	30992074	C	A	18	33412110	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.295424053937204	0.458
18	30992074	C	G	18	33412110	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.0304879167793235	0.248
18	30992074	C	T	18	33412110	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	6.2527257560891E-4	0.07
18	30992075	C	A	18	33412111	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999959719829109	0.732
18	30992075	C	G	18	33412111	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999959719829109	0.718
18	30992075	C	T	18	33412111	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999959719829109	0.732
18	30992076	T	A	18	33412112	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999974045756012	0.734
18	30992076	T	C	18	33412112	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999974045756012	0.736
18	30992076	T	G	18	33412112	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999974045756012	0.736
18	30992077	A	C	18	33412113	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.998177789055971	0.654
18	30992077	A	G	18	33412113	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.22229194973882E-4	0.04
18	30992077	A	T	18	33412113	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0209055503926551	0.258
18	30992078	A	C	18	33412114	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.880659519140831	0.636
18	30992078	A	G	18	33412114	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.00689561786763E-5	0.0
18	30992078	A	T	18	33412114	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.25621128134616E-5	0.002
18	30992079	T	A	18	33412115	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.5784543414525E-4	0.022
18	30992079	T	C	18	33412115	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.999035306697312	0.87
18	30992079	T	G	18	33412115	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.71216232223629E-4	0.016
18	30992080	T	A	18	33412116	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.60693875993261E-6	0.0
18	30992080	T	C	18	33412116	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.96011174143649E-5	0.0
18	30992080	T	G	18	33412116	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.17857709344215E-6	0.004
18	30992081	A	C	18	33412117	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0027191687241836	0.108
18	30992081	A	G	18	33412117	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.91316574944518E-5	0.046
18	30992081	A	T	18	33412117	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00492386891681138	0.086
18	30992082	G	A	18	33412118	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.80491184412369E-5	0.006
18	30992082	G	C	18	33412118	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	6.05219805924278E-5	0.012
18	30992082	G	T	18	33412118	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.21818007040852E-4	0.022
18	30992083	A	C	18	33412119	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.017493685756487	0.156
18	30992083	A	G	18	33412119	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.76323328523046E-5	0.0
18	30992083	A	T	18	33412119	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0220827682319052	0.148
18	30992084	A	C	18	33412120	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.126807742573809	0.436
18	30992084	A	G	18	33412120	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.81723718661865E-4	0.028
18	30992084	A	T	18	33412120	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.425449937508047	0.5
18	30992085	A	C	18	33412121	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.17400982290256	0.428
18	30992085	A	G	18	33412121	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0034736491783834	0.144
18	30992085	A	T	18	33412121	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.366762349643461	0.546
18	30992086	G	A	18	33412122	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.85449575434152E-5	0.002
18	30992086	G	C	18	33412122	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.80145139881845E-5	0.016
18	30992086	G	T	18	33412122	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.89806467687287E-4	0.002
18	31019918	T	A	18	33439954	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.2934643380595E-5	0.0
18	31019918	T	C	18	33439954	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.2934643380595E-5	0.0
18	31019918	T	G	18	33439954	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.2934643380595E-5	0.0
18	31019919	T	A	18	33439955	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00303282260413624	0.044
18	31019919	T	C	18	33439955	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.58989268492494E-4	0.026
18	31019919	T	G	18	33439955	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.77280541750873E-4	0.018
18	31019920	T	A	18	33439956	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.92606219201965E-5	0.01
18	31019920	T	C	18	33439956	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.98455534232424E-5	0.0
18	31019920	T	G	18	33439956	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.8235297012907E-5	0.006
18	31019921	C	A	18	33439957	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.979786568653332	0.658
18	31019921	C	G	18	33439957	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.986688814198111	0.646
18	31019921	C	T	18	33439957	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.996197221512886	0.672
18	31019922	T	A	18	33439958	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.350623953742403	0.388
18	31019922	T	C	18	33439958	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.347367787666138	0.492
18	31019922	T	G	18	33439958	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0666331645046054	0.352
18	31019923	C	A	18	33439959	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.281167369795756	0.44
18	31019923	C	G	18	33439959	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0139983619169774	0.378
18	31019923	C	T	18	33439959	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.81168101526073E-5	0.006
18	31019924	A	C	18	33439960	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.998777760727348	0.482
18	31019924	A	G	18	33439960	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.990066991377535	0.506
18	31019924	A	T	18	33439960	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.998777760727348	0.48
18	31019925	C	A	18	33439961	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999363729880175	0.548
18	31019925	C	G	18	33439961	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999363729880175	0.548
18	31019925	C	T	18	33439961	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	0.999363729880175	0.55
18	31019926	C	A	18	33439962	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.973308405540235	0.806
18	31019926	C	G	18	33439962	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.999758873484841	0.796
18	31019926	C	T	18	33439962	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.991997533127515	0.834
18	31019927	T	A	18	33439963	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.019799926722128	0.348
18	31019927	T	C	18	33439963	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.0198294347276209	0.244
18	31019927	T	G	18	33439963	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.0285159450541191	0.376
18	31019928	G	A	18	33439964	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.00456904418404312	0.162
18	31019928	G	C	18	33439964	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	4.42780940427102E-4	0.058
18	31019928	G	T	18	33439964	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	1.62882863476035E-4	0.01
18	31020044	C	A	18	33440080	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	5.03640525457558E-5	0.0
18	31020044	C	G	18	33440080	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	5.03640525457558E-5	0.0
18	31020044	C	T	18	33440080	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	9.15380256934019E-5	0.0
18	31020045	A	C	18	33440081	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	2.49011727534591E-5	0.0
18	31020045	A	G	18	33440081	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	2.49011727534591E-5	0.0
18	31020045	A	T	18	33440081	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	6.68256441675417E-5	0.0
18	31020046	C	A	18	33440082	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	2.4631346304159E-5	0.002
18	31020046	C	G	18	33440082	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	2.4631346304159E-5	0.002
18	31020046	C	T	18	33440082	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	2.4631346304159E-5	0.002
18	31020047	T	A	18	33440083	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	6.53161245857248E-4	0.02
18	31020047	T	C	18	33440083	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	6.53161245857248E-4	0.02
18	31020047	T	G	18	33440083	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	6.53161245857248E-4	0.02
18	31020048	T	A	18	33440084	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.78652117815633E-5	0.006
18	31020048	T	C	18	33440084	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.78652117815633E-5	0.006
18	31020048	T	G	18	33440084	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.78652117815633E-5	0.006
18	31020049	A	C	18	33440085	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.90028566392549E-5	0.012
18	31020049	A	G	18	33440085	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.90028566392549E-5	0.012
18	31020049	A	T	18	33440085	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.90028566392549E-5	0.002
18	31020050	A	C	18	33440086	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.53292460361593E-5	0.008
18	31020050	A	G	18	33440086	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.53292460361593E-5	0.008
18	31020050	A	T	18	33440086	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.53292460361593E-5	0.01
18	31020051	A	C	18	33440087	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.24975915077222E-5	0.0
18	31020051	A	G	18	33440087	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.24975915077222E-5	0.0
18	31020051	A	T	18	33440087	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.33815804894828E-5	0.0
18	31020052	A	C	18	33440088	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.46393969796562E-4	0.002
18	31020052	A	G	18	33440088	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.46393969796562E-4	0.002
18	31020052	A	T	18	33440088	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.29052254582776E-4	0.002
18	31020053	A	C	18	33440089	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.7586829694842E-5	0.0
18	31020053	A	G	18	33440089	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.7586829694842E-5	0.0
18	31020053	A	T	18	33440089	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	4.7586829694842E-5	0.0
18	31020054	A	C	18	33440090	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.25211152755068E-5	0.002
18	31020054	A	G	18	33440090	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	5.25211152755068E-5	0.002
18	31020054	A	T	18	33440090	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.40940918270023E-4	0.002
18	31020055	T	A	18	33440091	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.17564447662592E-4	0.0
18	31020055	T	C	18	33440091	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.17564447662592E-4	0.0
18	31020055	T	G	18	33440091	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.17564447662592E-4	0.0
18	31020056	T	A	18	33440092	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	9.9045007538115E-5	0.0
18	31020056	T	C	18	33440092	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.9740259382676E-5	0.0
18	31020056	T	G	18	33440092	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.9740259382676E-5	0.0
18	31020057	A	C	18	33440093	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.05918261028706E-4	0.0
18	31020057	A	G	18	33440093	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.05918261028706E-4	0.0
18	31020057	A	T	18	33440093	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.42707690275088E-4	0.008
18	31020609	C	A	18	33440645	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.02337758398172E-4	0.0
18	31020609	C	G	18	33440645	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.02337758398172E-4	0.0
18	31020609	C	T	18	33440645	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.02337758398172E-4	0.0
18	31020610	G	A	18	33440646	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.15272379410342E-4	0.0
18	31020610	G	C	18	33440646	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.15272379410342E-4	0.0
18	31020610	G	T	18	33440646	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.15272379410342E-4	0.0
18	31020611	A	C	18	33440647	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.73004156295328E-4	0.006
18	31020611	A	G	18	33440647	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.73004156295328E-4	0.006
18	31020611	A	T	18	33440647	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.56952079861446E-4	0.006
18	31020612	C	A	18	33440648	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0056491871444814	0.03
18	31020612	C	G	18	33440648	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0056491871444814	0.022
18	31020612	C	T	18	33440648	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.0056491871444814	0.034
18	31020613	T	A	18	33440649	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00441569569744403	0.028
18	31020613	T	C	18	33440649	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00358875693255834	0.026
18	31020613	T	G	18	33440649	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00358875693255834	0.026
18	31020614	C	A	18	33440650	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.8551835119743E-4	0.014
18	31020614	C	G	18	33440650	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.8551835119743E-4	0.004
18	31020614	C	T	18	33440650	y	y	intronic	CCDC178	.	.	intronic	ENSG00000166960	.	.	8.76314105744779E-4	0.002
18	31020615	A	C	18	33440651	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	7.48293208623238E-5	0.0
18	31020615	A	G	18	33440651	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	7.48293208623238E-5	0.0
18	31020615	A	T	18	33440651	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	1.07548002777155E-4	0.0
18	31020616	C	A	18	33440652	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	1.78733273105464E-4	0.016
18	31020616	C	G	18	33440652	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	3.32694389759872E-4	0.016
18	31020616	C	T	18	33440652	y	y	splicing	CCDC178	.	.	splicing	ENSG00000166960	.	.	2.33107312146592E-4	0.016
18	31020617	C	A	18	33440653	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.00123558539255655	0.006
18	31020617	C	G	18	33440653	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.00123558539255655	0.01
18	31020617	C	T	18	33440653	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	0.00123558539255655	0.014
18	31020618	G	A	18	33440654	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	2.01969967334334E-4	0.004
18	31020618	G	C	18	33440654	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	1.7357792130175E-4	0.0
18	31020618	G	T	18	33440654	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	1.7357792130175E-4	0.0
18	31020619	G	A	18	33440655	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	1.88852580461481E-4	0.002
18	31020619	G	C	18	33440655	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	2.69538443986435E-4	0.0
18	31020619	G	T	18	33440655	y	y	UTR5	CCDC178	.	.	UTR5	ENSG00000166960	.	.	1.4479979634806E-4	0.0
18	31020907	C	A	18	33440943	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.50312366030491E-5	0.0
18	31020907	C	G	18	33440943	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	7.68433810549259E-5	0.0
18	31020907	C	T	18	33440943	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.50312366030491E-5	0.0
18	31020908	T	A	18	33440944	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00232445102409904	0.044
18	31020908	T	C	18	33440944	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00232445102409904	0.04
18	31020908	T	G	18	33440944	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	0.00232445102409904	0.038
18	31020909	C	A	18	33440945	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.39529611572298E-5	0.008
18	31020909	C	G	18	33440945	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.39529611572298E-5	0.008
18	31020909	C	T	18	33440945	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	3.39529611572298E-5	0.008
18	31020910	T	A	18	33440946	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.37184549953077E-4	0.004
18	31020910	T	C	18	33440946	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.24297241394797E-4	0.004
18	31020910	T	G	18	33440946	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.24297241394797E-4	0.004
18	31020911	T	A	18	33440947	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.11389651227104E-4	0.006
18	31020911	T	C	18	33440947	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.11389651227104E-4	0.004
18	31020911	T	G	18	33440947	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	1.11389651227104E-4	0.004
18	31020912	T	A	18	33440948	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.72841159385093E-5	0.004
18	31020912	T	C	18	33440948	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.72841159385093E-5	0.004
18	31020912	T	G	18	33440948	n	y	upstream	CCDC178	.	.	intronic	ENSG00000166960	.	.	2.72841159385093E-5	0.004
18	31020913	A	C	18	33440949	n	y	upstream	CCDC178	.	.	splicing	ENSG00000166960	.	.	4.08802802279601E-5	0.004
18	31020913	A	G	18	33440949	n	y	upstream	CCDC178	.	.	splicing	ENSG00000166960	.	.	4.08802802279601E-5	0.004
18	31020913	A	T	18	33440949	n	y	upstream	CCDC178	.	.	splicing	ENSG00000166960	.	.	8.49702646665041E-5	0.004
18	31020914	C	A	18	33440950	n	y	upstream	CCDC178	.	.	splicing	ENSG00000166960	.	.	7.68433810549259E-5	0.0
18	31020914	C	G	18	33440950	n	y	upstream	CCDC178	.	.	splicing	ENSG00000166960	.	.	7.68433810549259E-5	0.0
18	31020914	C	T	18	33440950	n	y	upstream	CCDC178	.	.	splicing	ENSG00000166960	.	.	6.36710167771019E-5	0.0
18	31020915	C	A	18	33440951	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	6.35428655471156E-5	0.004
18	31020915	C	G	18	33440951	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	8.49702646665041E-5	0.04
18	31020915	C	T	18	33440951	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	6.35428655471156E-5	0.002
18	31020916	G	A	18	33440952	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	6.35428655471156E-5	0.004
18	31020916	G	C	18	33440952	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	8.49702646665041E-5	0.02
18	31020916	G	T	18	33440952	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	6.35428655471156E-5	0.004
18	31020917	G	A	18	33440953	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	3.62965044666173E-5	0.0
18	31020917	G	C	18	33440953	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	6.59706358747764E-5	0.0
18	31020917	G	T	18	33440953	n	y	upstream	CCDC178	.	.	UTR5	ENSG00000166960	.	.	6.59706358747764E-5	0.0
18	31158647	C	A	18	33578683	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon1:c.C52A:p.L18M;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.C43A:p.L15M;ENSG00000141431:ENST00000269197:exon1:c.C52A:p.L18M;ENSG00000141431:ENST00000592288:exon1:c.C52A:p.L18M;ENSG00000141431:ENST00000593195:exon1:c.C52A:p.L18M;	6.16910883223478E-5	0.004
18	31158647	C	G	18	33578683	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon1:c.C52G:p.L18V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.C43G:p.L15V;ENSG00000141431:ENST00000269197:exon1:c.C52G:p.L18V;ENSG00000141431:ENST00000592288:exon1:c.C52G:p.L18V;ENSG00000141431:ENST00000593195:exon1:c.C52G:p.L18V;	5.59517792478245E-5	0.004
18	31158647	C	T	18	33578683	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon1:c.C52T:p.L18L;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.C43T:p.L15L;ENSG00000141431:ENST00000269197:exon1:c.C52T:p.L18L;ENSG00000141431:ENST00000592288:exon1:c.C52T:p.L18L;ENSG00000141431:ENST00000593195:exon1:c.C52T:p.L18L;	0.00159637564570141	0.142
18	31158648	T	A	18	33578684	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon1:c.T53A:p.L18Q;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.T44A:p.L15Q;ENSG00000141431:ENST00000269197:exon1:c.T53A:p.L18Q;ENSG00000141431:ENST00000592288:exon1:c.T53A:p.L18Q;ENSG00000141431:ENST00000593195:exon1:c.T53A:p.L18Q;	3.45670303837577E-4	0.19
18	31158648	T	C	18	33578684	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon1:c.T53C:p.L18P;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.T44C:p.L15P;ENSG00000141431:ENST00000269197:exon1:c.T53C:p.L18P;ENSG00000141431:ENST00000592288:exon1:c.T53C:p.L18P;ENSG00000141431:ENST00000593195:exon1:c.T53C:p.L18P;	6.40336583447057E-5	0.01
18	31158648	T	G	18	33578684	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon1:c.T53G:p.L18R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.T44G:p.L15R;ENSG00000141431:ENST00000269197:exon1:c.T53G:p.L18R;ENSG00000141431:ENST00000592288:exon1:c.T53G:p.L18R;ENSG00000141431:ENST00000593195:exon1:c.T53G:p.L18R;	2.9780657686863E-4	0.022
18	31158649	G	A	18	33578685	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon1:c.G54A:p.L18L;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.G45A:p.L15L;ENSG00000141431:ENST00000269197:exon1:c.G54A:p.L18L;ENSG00000141431:ENST00000592288:exon1:c.G54A:p.L18L;ENSG00000141431:ENST00000593195:exon1:c.G54A:p.L18L;	0.996882911122416	0.814
18	31158649	G	C	18	33578685	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon1:c.G54C:p.L18L;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.G45C:p.L15L;ENSG00000141431:ENST00000269197:exon1:c.G54C:p.L18L;ENSG00000141431:ENST00000592288:exon1:c.G54C:p.L18L;ENSG00000141431:ENST00000593195:exon1:c.G54C:p.L18L;	0.997092720992269	0.626
18	31158649	G	T	18	33578685	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon1:c.G54T:p.L18L;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon1:c.G45T:p.L15L;ENSG00000141431:ENST00000269197:exon1:c.G54T:p.L18L;ENSG00000141431:ENST00000592288:exon1:c.G54T:p.L18L;ENSG00000141431:ENST00000593195:exon1:c.G54T:p.L18L;	0.999871409569418	0.926
18	31158650	G	A	18	33578686	y	y	splicing	ASXL3(NM_030632:exon1:c.54+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon1:c.54+1G>A;ENST00000269197:exon1:c.54+1G>A;ENST00000593195:exon1:c.54+1G>A;ENST00000590189:exon1:c.45+1G>A;ENST00000586596:exon1:c.20+1G>A)	.	.	0.999971596609132	0.766
18	31158650	G	C	18	33578686	y	y	splicing	ASXL3(NM_030632:exon1:c.54+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon1:c.54+1G>C;ENST00000269197:exon1:c.54+1G>C;ENST00000593195:exon1:c.54+1G>C;ENST00000590189:exon1:c.45+1G>C;ENST00000586596:exon1:c.20+1G>C)	.	.	0.999962956133083	0.768
18	31158650	G	T	18	33578686	y	y	splicing	ASXL3(NM_030632:exon1:c.54+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon1:c.54+1G>T;ENST00000269197:exon1:c.54+1G>T;ENST00000593195:exon1:c.54+1G>T;ENST00000590189:exon1:c.45+1G>T;ENST00000586596:exon1:c.20+1G>T)	.	.	0.999962956133083	0.766
18	31158651	T	A	18	33578687	y	y	splicing	ASXL3(NM_030632:exon1:c.54+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon1:c.54+2T>A;ENST00000269197:exon1:c.54+2T>A;ENST00000593195:exon1:c.54+2T>A;ENST00000590189:exon1:c.45+2T>A;ENST00000586596:exon1:c.20+2T>A)	.	.	0.999971596609132	0.762
18	31158651	T	C	18	33578687	y	y	splicing	ASXL3(NM_030632:exon1:c.54+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon1:c.54+2T>C;ENST00000269197:exon1:c.54+2T>C;ENST00000593195:exon1:c.54+2T>C;ENST00000590189:exon1:c.45+2T>C;ENST00000586596:exon1:c.20+2T>C)	.	.	0.949761911477058	0.456
18	31158651	T	G	18	33578687	y	y	splicing	ASXL3(NM_030632:exon1:c.54+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon1:c.54+2T>G;ENST00000269197:exon1:c.54+2T>G;ENST00000593195:exon1:c.54+2T>G;ENST00000590189:exon1:c.45+2T>G;ENST00000586596:exon1:c.20+2T>G)	.	.	0.999962956133083	0.77
18	31158652	A	C	18	33578688	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999051005010399	0.862
18	31158652	A	G	18	33578688	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0524773271436241	0.228
18	31158652	A	T	18	33578688	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.994839208354696	0.786
18	31158653	C	A	18	33578689	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.58153228503585E-5	0.014
18	31158653	C	G	18	33578689	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.50890089083023E-5	0.006
18	31158653	C	T	18	33578689	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.67525752110245E-4	0.006
18	31158654	G	A	18	33578690	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999850480068725	0.76
18	31158654	G	C	18	33578690	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999836171782817	0.912
18	31158654	G	T	18	33578690	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999800409993106	0.842
18	31158655	T	A	18	33578691	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0613342646216926	0.222
18	31158655	T	C	18	33578691	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0425960914391558	0.206
18	31158655	T	G	18	33578691	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00881249583224957	0.19
18	31158656	A	C	18	33578692	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.99635541147787E-5	0.002
18	31158656	A	G	18	33578692	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.65883519289621E-5	0.002
18	31158656	A	T	18	33578692	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.49830817497844E-5	0.002
18	31158657	C	A	18	33578693	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.10959412055234E-4	0.016
18	31158657	C	G	18	33578693	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.30402563593691E-4	0.006
18	31158657	C	T	18	33578693	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.10173801878394E-5	0.0
18	31185620	A	C	18	33605656	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	0.883937540871048	0.746
18	31185620	A	G	18	33605656	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	0.883937540871048	0.746
18	31185620	A	T	18	33605656	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	0.883937540871048	0.742
18	31185621	C	A	18	33605657	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	0.992582827656597	0.934
18	31185621	C	G	18	33605657	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	0.991423892014245	0.926
18	31185621	C	T	18	33605657	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	0.992582827656597	0.934
18	31185622	A	C	18	33605658	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	1.5071096697769E-4	0.17
18	31185622	A	G	18	33605658	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	1.5071096697769E-4	0.17
18	31185622	A	T	18	33605658	n	y	intronic	ASXL3	.	.	UTR5	ENSG00000141431	.	.	1.5071096697769E-4	0.17
18	31185623	G	A	18	33605659	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431	.	.	3.53254239049426E-4	0.206
18	31185623	G	C	18	33605659	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431	.	.	2.5863496508353E-4	0.194
18	31185623	G	T	18	33605659	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431	.	.	4.26129661182924E-4	0.208
18	31185624	T	A	18	33605660	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431	.	.	0.883937540871048	0.746
18	31185624	T	C	18	33605660	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431	.	.	0.883937540871048	0.75
18	31185624	T	G	18	33605660	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431	.	.	0.883937540871048	0.75
18	31185625	G	A	18	33605661	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.78702894774703E-4	0.096
18	31185625	G	C	18	33605661	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.99874529874857E-4	0.104
18	31185625	G	T	18	33605661	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.99874529874857E-4	0.104
18	31185626	A	C	18	33605662	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00183445731651836	0.19
18	31185626	A	G	18	33605662	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00183445731651836	0.188
18	31185626	A	T	18	33605662	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00183445731651836	0.216
18	31185627	G	A	18	33605663	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.991423892014245	0.926
18	31185627	G	C	18	33605663	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.993349593042562	0.924
18	31185627	G	T	18	33605663	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.993349593042562	0.93
18	31185628	T	A	18	33605664	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0440916467622957	0.244
18	31185628	T	C	18	33605664	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0447811814577466	0.202
18	31185628	T	G	18	33605664	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0447811814577466	0.222
18	31185629	A	C	18	33605665	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.811629643391293	0.734
18	31185629	A	G	18	33605665	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.811629643391293	0.734
18	31185629	A	T	18	33605665	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.769305086159643	0.742
18	31185630	A	C	18	33605666	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.894744734440394	0.74
18	31185630	A	G	18	33605666	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.894744734440394	0.74
18	31185630	A	T	18	33605666	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.894744734440394	0.744
18	31187546	T	A	18	33607582	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0115916234606456	0.172
18	31187546	T	C	18	33607582	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.85363600210143E-5	0.0
18	31187546	T	G	18	33607582	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00600193560762334	0.13
18	31187547	T	A	18	33607583	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.157739115594777	0.354
18	31187547	T	C	18	33607583	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.05811017325259E-4	0.02
18	31187547	T	G	18	33607583	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0649907657939283	0.34
18	31187548	T	A	18	33607584	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.238643557343054	0.604
18	31187548	T	C	18	33607584	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00106593266086415	0.028
18	31187548	T	G	18	33607584	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.811453395012088	0.662
18	31187549	A	C	18	33607585	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	9.56692283570679E-5	0.004
18	31187549	A	G	18	33607585	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.90239614768391E-5	0.002
18	31187549	A	T	18	33607585	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.08092905687797E-4	0.01
18	31187550	T	A	18	33607586	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.216713811129372	0.214
18	31187550	T	C	18	33607586	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.68413902213248E-4	0.002
18	31187550	T	G	18	33607586	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999768495439341	0.98
18	31187551	A	C	18	33607587	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	9.72320636495777E-6	0.0
18	31187551	A	G	18	33607587	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.08910725356548E-5	0.0
18	31187551	A	T	18	33607587	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.67725123354881E-5	0.0
18	31187552	T	A	18	33607588	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.823862661608941	0.796
18	31187552	T	C	18	33607588	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0143057721738578	0.152
18	31187552	T	G	18	33607588	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999794567081168	0.946
18	31187553	T	A	18	33607589	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.986148427340644	0.746
18	31187553	T	C	18	33607589	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.170029727325234	0.236
18	31187553	T	G	18	33607589	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.986750584758367	0.692
18	31187554	T	A	18	33607590	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.91309729905445E-4	0.006
18	31187554	T	C	18	33607590	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.17732108663048E-4	0.024
18	31187554	T	G	18	33607590	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.80846709836421E-4	0.014
18	31187555	T	A	18	33607591	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00190387251150058	0.182
18	31187555	T	C	18	33607591	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.64001643144553E-5	0.008
18	31187555	T	G	18	33607591	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.322433833900379	0.592
18	31187556	A	C	18	33607592	y	y	splicing	ASXL3(NM_030632:exon2:c.55-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.55-2A>C;ENST00000269197:exon2:c.55-2A>C;ENST00000593195:exon2:c.55-2A>C;ENST00000590189:exon2:c.46-2A>C;ENST00000586596:exon2:c.21-2A>C)	.	.	0.999988247793601	0.93
18	31187556	A	G	18	33607592	y	y	splicing	ASXL3(NM_030632:exon2:c.55-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.55-2A>G;ENST00000269197:exon2:c.55-2A>G;ENST00000593195:exon2:c.55-2A>G;ENST00000590189:exon2:c.46-2A>G;ENST00000586596:exon2:c.21-2A>G)	.	.	0.999988247793601	0.93
18	31187556	A	T	18	33607592	y	y	splicing	ASXL3(NM_030632:exon2:c.55-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.55-2A>T;ENST00000269197:exon2:c.55-2A>T;ENST00000593195:exon2:c.55-2A>T;ENST00000590189:exon2:c.46-2A>T;ENST00000586596:exon2:c.21-2A>T)	.	.	0.999988247793601	0.93
18	31187557	G	A	18	33607593	y	y	splicing	ASXL3(NM_030632:exon2:c.55-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.55-1G>A;ENST00000269197:exon2:c.55-1G>A;ENST00000593195:exon2:c.55-1G>A;ENST00000590189:exon2:c.46-1G>A;ENST00000586596:exon2:c.21-1G>A)	.	.	0.999989072007339	0.932
18	31187557	G	C	18	33607593	y	y	splicing	ASXL3(NM_030632:exon2:c.55-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.55-1G>C;ENST00000269197:exon2:c.55-1G>C;ENST00000593195:exon2:c.55-1G>C;ENST00000590189:exon2:c.46-1G>C;ENST00000586596:exon2:c.21-1G>C)	.	.	0.999989072007339	0.932
18	31187557	G	T	18	33607593	y	y	splicing	ASXL3(NM_030632:exon2:c.55-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.55-1G>T;ENST00000269197:exon2:c.55-1G>T;ENST00000593195:exon2:c.55-1G>T;ENST00000590189:exon2:c.46-1G>T;ENST00000586596:exon2:c.21-1G>T)	.	.	0.999989072007339	0.932
18	31187558	G	A	18	33607594	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.G55A:p.A19T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon2:c.G46A:p.A16T;ENSG00000141431:ENST00000269197:exon2:c.G55A:p.A19T;ENSG00000141431:ENST00000592288:exon2:c.G55A:p.A19T;ENSG00000141431:ENST00000593195:exon2:c.G55A:p.A19T;	0.999372310908899	0.918
18	31187558	G	C	18	33607594	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.G55C:p.A19P;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon2:c.G46C:p.A16P;ENSG00000141431:ENST00000269197:exon2:c.G55C:p.A19P;ENSG00000141431:ENST00000592288:exon2:c.G55C:p.A19P;ENSG00000141431:ENST00000593195:exon2:c.G55C:p.A19P;	0.999857930005657	0.992
18	31187558	G	T	18	33607594	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.G55T:p.A19S;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon2:c.G46T:p.A16S;ENSG00000141431:ENST00000269197:exon2:c.G55T:p.A19S;ENSG00000141431:ENST00000592288:exon2:c.G55T:p.A19S;ENSG00000141431:ENST00000593195:exon2:c.G55T:p.A19S;	0.999885950932309	0.976
18	31187559	C	A	18	33607595	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.C56A:p.A19E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon2:c.C47A:p.A16E;ENSG00000141431:ENST00000269197:exon2:c.C56A:p.A19E;ENSG00000141431:ENST00000592288:exon2:c.C56A:p.A19E;ENSG00000141431:ENST00000593195:exon2:c.C56A:p.A19E;	0.991245041590808	0.866
18	31187559	C	G	18	33607595	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.C56G:p.A19G;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon2:c.C47G:p.A16G;ENSG00000141431:ENST00000269197:exon2:c.C56G:p.A19G;ENSG00000141431:ENST00000592288:exon2:c.C56G:p.A19G;ENSG00000141431:ENST00000593195:exon2:c.C56G:p.A19G;	0.978282941011965	0.786
18	31187559	C	T	18	33607595	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.C56T:p.A19V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon2:c.C47T:p.A16V;ENSG00000141431:ENST00000269197:exon2:c.C56T:p.A19V;ENSG00000141431:ENST00000592288:exon2:c.C56T:p.A19V;ENSG00000141431:ENST00000593195:exon2:c.C56T:p.A19V;	0.976921072908153	0.802
18	31187638	A	C	18	33607674	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon2:c.A135C:p.T45T;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000588038:exon2:c.A54C:p.T18T;ENSG00000141431:ENST00000590973:exon1:c.A54C:p.T18T;ENSG00000141431:ENST00000593235:exon2:c.A54C:p.T18T;ENSG00000141431:ENST00000590189:exon2:c.A126C:p.T42T;ENSG00000141431:ENST00000586327:exon2:c.A54C:p.T18T;ENSG00000141431:ENST00000585426:exon2:c.A54C:p.T18T;ENSG00000141431:ENST00000269197:exon2:c.A135C:p.T45T;ENSG00000141431:ENST00000590225:exon2:c.A54C:p.T18T;ENSG00000141431:ENST00000592288:exon2:c.A135C:p.T45T;ENSG00000141431:ENST00000593195:exon2:c.A135C:p.T45T;ENSG00000141431:ENST00000592541:exon2:c.A54C:p.T18T;ENSG00000141431:ENST00000588741:exon2:c.A54C:p.T18T;	0.129603159340925	0.31
18	31187638	A	G	18	33607674	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon2:c.A135G:p.T45T;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000588038:exon2:c.A54G:p.T18T;ENSG00000141431:ENST00000590973:exon1:c.A54G:p.T18T;ENSG00000141431:ENST00000593235:exon2:c.A54G:p.T18T;ENSG00000141431:ENST00000590189:exon2:c.A126G:p.T42T;ENSG00000141431:ENST00000586327:exon2:c.A54G:p.T18T;ENSG00000141431:ENST00000585426:exon2:c.A54G:p.T18T;ENSG00000141431:ENST00000269197:exon2:c.A135G:p.T45T;ENSG00000141431:ENST00000590225:exon2:c.A54G:p.T18T;ENSG00000141431:ENST00000592288:exon2:c.A135G:p.T45T;ENSG00000141431:ENST00000593195:exon2:c.A135G:p.T45T;ENSG00000141431:ENST00000592541:exon2:c.A54G:p.T18T;ENSG00000141431:ENST00000588741:exon2:c.A54G:p.T18T;	0.32129430800699	0.394
18	31187638	A	T	18	33607674	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon2:c.A135T:p.T45T;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000588038:exon2:c.A54T:p.T18T;ENSG00000141431:ENST00000590973:exon1:c.A54T:p.T18T;ENSG00000141431:ENST00000593235:exon2:c.A54T:p.T18T;ENSG00000141431:ENST00000590189:exon2:c.A126T:p.T42T;ENSG00000141431:ENST00000586327:exon2:c.A54T:p.T18T;ENSG00000141431:ENST00000585426:exon2:c.A54T:p.T18T;ENSG00000141431:ENST00000269197:exon2:c.A135T:p.T45T;ENSG00000141431:ENST00000590225:exon2:c.A54T:p.T18T;ENSG00000141431:ENST00000592288:exon2:c.A135T:p.T45T;ENSG00000141431:ENST00000593195:exon2:c.A135T:p.T45T;ENSG00000141431:ENST00000592541:exon2:c.A54T:p.T18T;ENSG00000141431:ENST00000588741:exon2:c.A54T:p.T18T;	0.942475377173821	0.622
18	31187639	A	C	18	33607675	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.A136C:p.S46R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000593235:exon2:c.A55C:p.S19R;ENSG00000141431:ENST00000590189:exon2:c.A127C:p.S43R;ENSG00000141431:ENST00000586327:exon2:c.A55C:p.S19R;ENSG00000141431:ENST00000585426:exon2:c.A55C:p.S19R;ENSG00000141431:ENST00000269197:exon2:c.A136C:p.S46R;ENSG00000141431:ENST00000593195:exon2:c.A136C:p.S46R;ENSG00000141431:ENST00000588741:exon2:c.A55C:p.S19R;	0.994963760598362	0.932
18	31187639	A	G	18	33607675	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.A136G:p.S46G;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000588038:exon2:c.A55G:p.R19G;ENSG00000141431:ENST00000590973:exon1:c.A55G:p.R19G;ENSG00000141431:ENST00000593235:exon2:c.A55G:p.S19G;ENSG00000141431:ENST00000590189:exon2:c.A127G:p.S43G;ENSG00000141431:ENST00000586327:exon2:c.A55G:p.S19G;ENSG00000141431:ENST00000585426:exon2:c.A55G:p.S19G;ENSG00000141431:ENST00000269197:exon2:c.A136G:p.S46G;ENSG00000141431:ENST00000590225:exon2:c.A55G:p.R19G;ENSG00000141431:ENST00000592288:exon2:c.A136G:p.R46G;ENSG00000141431:ENST00000593195:exon2:c.A136G:p.S46G;ENSG00000141431:ENST00000592541:exon2:c.A55G:p.R19G;ENSG00000141431:ENST00000588741:exon2:c.A55G:p.S19G;	0.999404626537246	0.938
18	31187639	A	T	18	33607675	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.A136T:p.S46C;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000588038:exon2:c.A55T:p.R19X;ENSG00000141431:ENST00000590973:exon1:c.A55T:p.R19X;ENSG00000141431:ENST00000590225:exon2:c.A55T:p.R19X;ENSG00000141431:ENST00000592288:exon2:c.A136T:p.R46X;ENSG00000141431:ENST00000592541:exon2:c.A55T:p.R19X;	0.999572009686762	0.986
18	31187640	G	A	18	33607676	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.G137A:p.S46N;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000588038:exon2:c.G56A:p.R19K;ENSG00000141431:ENST00000590973:exon1:c.G56A:p.R19K;ENSG00000141431:ENST00000593235:exon2:c.G56A:p.S19N;ENSG00000141431:ENST00000590189:exon2:c.G128A:p.S43N;ENSG00000141431:ENST00000586327:exon2:c.G56A:p.S19N;ENSG00000141431:ENST00000585426:exon2:c.G56A:p.S19N;ENSG00000141431:ENST00000269197:exon2:c.G137A:p.S46N;ENSG00000141431:ENST00000590225:exon2:c.G56A:p.R19K;ENSG00000141431:ENST00000592288:exon2:c.G137A:p.R46K;ENSG00000141431:ENST00000593195:exon2:c.G137A:p.S46N;ENSG00000141431:ENST00000592541:exon2:c.G56A:p.R19K;ENSG00000141431:ENST00000588741:exon2:c.G56A:p.S19N;	0.999986686225368	0.882
18	31187640	G	C	18	33607676	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.G137C:p.S46T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000588038:exon2:c.G56C:p.R19T;ENSG00000141431:ENST00000590973:exon1:c.G56C:p.R19T;ENSG00000141431:ENST00000593235:exon2:c.G56C:p.S19T;ENSG00000141431:ENST00000590189:exon2:c.G128C:p.S43T;ENSG00000141431:ENST00000586327:exon2:c.G56C:p.S19T;ENSG00000141431:ENST00000585426:exon2:c.G56C:p.S19T;ENSG00000141431:ENST00000269197:exon2:c.G137C:p.S46T;ENSG00000141431:ENST00000590225:exon2:c.G56C:p.R19T;ENSG00000141431:ENST00000592288:exon2:c.G137C:p.R46T;ENSG00000141431:ENST00000593195:exon2:c.G137C:p.S46T;ENSG00000141431:ENST00000592541:exon2:c.G56C:p.R19T;ENSG00000141431:ENST00000588741:exon2:c.G56C:p.S19T;	0.999995759080715	0.996
18	31187640	G	T	18	33607676	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon2:c.G137T:p.S46I;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000588038:exon2:c.G56T:p.R19I;ENSG00000141431:ENST00000590973:exon1:c.G56T:p.R19I;ENSG00000141431:ENST00000593235:exon2:c.G56T:p.S19I;ENSG00000141431:ENST00000590189:exon2:c.G128T:p.S43I;ENSG00000141431:ENST00000586327:exon2:c.G56T:p.S19I;ENSG00000141431:ENST00000585426:exon2:c.G56T:p.S19I;ENSG00000141431:ENST00000269197:exon2:c.G137T:p.S46I;ENSG00000141431:ENST00000590225:exon2:c.G56T:p.R19I;ENSG00000141431:ENST00000592288:exon2:c.G137T:p.R46I;ENSG00000141431:ENST00000593195:exon2:c.G137T:p.S46I;ENSG00000141431:ENST00000592541:exon2:c.G56T:p.R19I;ENSG00000141431:ENST00000588741:exon2:c.G56T:p.S19I;	0.999989344510057	0.996
18	31187641	G	A	18	33607677	y	y	splicing	ASXL3(NM_030632:exon2:c.137+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.137+1G>A;ENST00000269197:exon2:c.137+1G>A;ENST00000593195:exon2:c.137+1G>A;ENST00000590189:exon2:c.128+1G>A;ENST00000592541:exon2:c.56+1G>A;ENST00000586596:exon2:c.103+1G>A;ENST00000586327:exon2:c.56+1G>A;ENST00000588038:exon2:c.56+1G>A;ENST00000585426:exon2:c.56+1G>A;ENST00000588741:exon2:c.56+1G>A;ENST00000590225:exon2:c.56+1G>A;ENST00000593235:exon2:c.56+1G>A;ENST00000590973:exon1:c.56+1G>A)	.	.	0.999989072007339	0.934
18	31187641	G	C	18	33607677	y	y	splicing	ASXL3(NM_030632:exon2:c.137+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.137+1G>C;ENST00000269197:exon2:c.137+1G>C;ENST00000593195:exon2:c.137+1G>C;ENST00000590189:exon2:c.128+1G>C;ENST00000592541:exon2:c.56+1G>C;ENST00000586596:exon2:c.103+1G>C;ENST00000586327:exon2:c.56+1G>C;ENST00000588038:exon2:c.56+1G>C;ENST00000585426:exon2:c.56+1G>C;ENST00000588741:exon2:c.56+1G>C;ENST00000590225:exon2:c.56+1G>C;ENST00000593235:exon2:c.56+1G>C;ENST00000590973:exon1:c.56+1G>C)	.	.	0.999989072007339	0.934
18	31187641	G	T	18	33607677	y	y	splicing	ASXL3(NM_030632:exon2:c.137+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.137+1G>T;ENST00000269197:exon2:c.137+1G>T;ENST00000593195:exon2:c.137+1G>T;ENST00000590189:exon2:c.128+1G>T;ENST00000592541:exon2:c.56+1G>T;ENST00000586596:exon2:c.103+1G>T;ENST00000586327:exon2:c.56+1G>T;ENST00000588038:exon2:c.56+1G>T;ENST00000585426:exon2:c.56+1G>T;ENST00000588741:exon2:c.56+1G>T;ENST00000590225:exon2:c.56+1G>T;ENST00000593235:exon2:c.56+1G>T;ENST00000590973:exon1:c.56+1G>T)	.	.	0.999989072007339	0.934
18	31187642	T	A	18	33607678	y	y	splicing	ASXL3(NM_030632:exon2:c.137+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.137+2T>A;ENST00000269197:exon2:c.137+2T>A;ENST00000593195:exon2:c.137+2T>A;ENST00000590189:exon2:c.128+2T>A;ENST00000592541:exon2:c.56+2T>A;ENST00000586596:exon2:c.103+2T>A;ENST00000586327:exon2:c.56+2T>A;ENST00000588038:exon2:c.56+2T>A;ENST00000585426:exon2:c.56+2T>A;ENST00000588741:exon2:c.56+2T>A;ENST00000590225:exon2:c.56+2T>A;ENST00000593235:exon2:c.56+2T>A;ENST00000590973:exon1:c.56+2T>A)	.	.	0.999988247793601	0.932
18	31187642	T	C	18	33607678	y	y	splicing	ASXL3(NM_030632:exon2:c.137+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.137+2T>C;ENST00000269197:exon2:c.137+2T>C;ENST00000593195:exon2:c.137+2T>C;ENST00000590189:exon2:c.128+2T>C;ENST00000592541:exon2:c.56+2T>C;ENST00000586596:exon2:c.103+2T>C;ENST00000586327:exon2:c.56+2T>C;ENST00000588038:exon2:c.56+2T>C;ENST00000585426:exon2:c.56+2T>C;ENST00000588741:exon2:c.56+2T>C;ENST00000590225:exon2:c.56+2T>C;ENST00000593235:exon2:c.56+2T>C;ENST00000590973:exon1:c.56+2T>C)	.	.	0.994359181757974	0.686
18	31187642	T	G	18	33607678	y	y	splicing	ASXL3(NM_030632:exon2:c.137+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon2:c.137+2T>G;ENST00000269197:exon2:c.137+2T>G;ENST00000593195:exon2:c.137+2T>G;ENST00000590189:exon2:c.128+2T>G;ENST00000592541:exon2:c.56+2T>G;ENST00000586596:exon2:c.103+2T>G;ENST00000586327:exon2:c.56+2T>G;ENST00000588038:exon2:c.56+2T>G;ENST00000585426:exon2:c.56+2T>G;ENST00000588741:exon2:c.56+2T>G;ENST00000590225:exon2:c.56+2T>G;ENST00000593235:exon2:c.56+2T>G;ENST00000590973:exon1:c.56+2T>G)	.	.	0.999988247793601	0.932
18	31187643	C	A	18	33607679	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.60973889937871E-4	0.048
18	31187643	C	G	18	33607679	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.62122082806113E-4	0.03
18	31187643	C	T	18	33607679	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0010307847687975	0.002
18	31187644	A	C	18	33607680	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.994473080298316	0.816
18	31187644	A	G	18	33607680	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.968099616976904	0.7
18	31187644	A	T	18	33607680	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.995950439298233	0.88
18	31187645	G	A	18	33607681	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999779512222507	0.96
18	31187645	G	C	18	33607681	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999030705803708	0.74
18	31187645	G	T	18	33607681	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.99969733292456	0.844
18	31187646	T	A	18	33607682	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988781642741357	0.758
18	31187646	T	C	18	33607682	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.934251642291863	0.686
18	31187646	T	G	18	33607682	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.973559595318437	0.784
18	31187647	A	C	18	33607683	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.5230715202114E-4	0.032
18	31187647	A	G	18	33607683	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.74568357107046E-4	0.008
18	31187647	A	T	18	33607683	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.04665445590949E-4	0.006
18	31187648	T	A	18	33607684	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.80809917585252E-4	0.0
18	31187648	T	C	18	33607684	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00254905923294992	0.006
18	31187648	T	G	18	33607684	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.36470313080224E-4	0.0
18	31196631	T	A	18	33616667	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.09395893123295E-5	0.002
18	31196631	T	C	18	33616667	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.78684081159298E-5	0.002
18	31196631	T	G	18	33616667	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.78684081159298E-5	0.002
18	31196632	T	A	18	33616668	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00137888029709582	0.002
18	31196632	T	C	18	33616668	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.14234099493075E-4	0.002
18	31196632	T	G	18	33616668	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.14234099493075E-4	0.002
18	31196633	T	A	18	33616669	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.12051756480288E-5	0.0
18	31196633	T	C	18	33616669	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.01209109375653E-5	0.0
18	31196633	T	G	18	33616669	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.01209109375653E-5	0.0
18	31196634	T	A	18	33616670	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.14234099493075E-4	0.034
18	31196634	T	C	18	33616670	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.14234099493075E-4	0.034
18	31196634	T	G	18	33616670	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.14234099493075E-4	0.034
18	31196635	T	A	18	33616671	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.15941453541388E-5	0.002
18	31196635	T	C	18	33616671	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.15941453541388E-5	0.002
18	31196635	T	G	18	33616671	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.15941453541388E-5	0.002
18	31196636	C	A	18	33616672	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.68952365742707E-5	0.002
18	31196636	C	G	18	33616672	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.68952365742707E-5	0.002
18	31196636	C	T	18	33616672	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.68952365742707E-5	0.002
18	31196637	T	A	18	33616673	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00110381403670034	0.002
18	31196637	T	C	18	33616673	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00110381403670034	0.002
18	31196637	T	G	18	33616673	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00110381403670034	0.002
18	31196638	C	A	18	33616674	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.63826396113866E-4	0.02
18	31196638	C	G	18	33616674	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.63826396113866E-4	0.02
18	31196638	C	T	18	33616674	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.63826396113866E-4	0.02
18	31196639	A	C	18	33616675	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.7586829694842E-5	0.0
18	31196639	A	G	18	33616675	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.7586829694842E-5	0.0
18	31196639	A	T	18	33616675	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.7586829694842E-5	0.0
18	31196640	C	A	18	33616676	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.36187558740154E-5	0.0
18	31196640	C	G	18	33616676	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.04243866858565E-5	0.0
18	31196640	C	T	18	33616676	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.36187558740154E-5	0.006
18	31196641	A	C	18	33616677	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.57-2A>C;ENST00000585426:exon3:c.57-2A>C)	.	.	5.14234099493075E-4	0.002
18	31196641	A	G	18	33616677	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.57-2A>G;ENST00000585426:exon3:c.57-2A>G)	.	.	5.14234099493075E-4	0.002
18	31196641	A	T	18	33616677	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.57-2A>T;ENST00000585426:exon3:c.57-2A>T)	.	.	5.14234099493075E-4	0.002
18	31196642	G	A	18	33616678	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.57-1G>A;ENST00000585426:exon3:c.57-1G>A)	.	.	1.97714972400462E-4	0.02
18	31196642	G	C	18	33616678	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.57-1G>C;ENST00000585426:exon3:c.57-1G>C)	.	.	1.97714972400462E-4	0.028
18	31196642	G	T	18	33616678	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.57-1G>T;ENST00000585426:exon3:c.57-1G>T)	.	.	1.97714972400462E-4	0.022
18	31196643	T	A	18	33616679	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.T57A:p.S19R;ENSG00000141431:ENST00000585426:exon3:c.T57A:p.S19R;	5.14234099493075E-4	0.002
18	31196643	T	C	18	33616679	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.T57C:p.S19S;ENSG00000141431:ENST00000585426:exon3:c.T57C:p.S19S;	5.14234099493075E-4	0.002
18	31196643	T	G	18	33616679	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.T57G:p.S19R;ENSG00000141431:ENST00000585426:exon3:c.T57G:p.S19R;	5.14234099493075E-4	0.002
18	31196644	T	A	18	33616680	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.T58A:p.S20T;ENSG00000141431:ENST00000585426:exon3:c.T58A:p.S20T;	4.3686917030135E-5	0.0
18	31196644	T	C	18	33616680	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.T58C:p.S20P;ENSG00000141431:ENST00000585426:exon3:c.T58C:p.S20P;	2.40359436175598E-5	0.0
18	31196644	T	G	18	33616680	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.T58G:p.S20A;ENSG00000141431:ENST00000585426:exon3:c.T58G:p.S20A;	2.40359436175598E-5	0.0
18	31196688	C	A	18	33616724	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.C102A:p.F34L;ENSG00000141431:ENST00000585426:exon3:c.C102A:p.F34L;	5.99944643161447E-5	0.006
18	31196688	C	G	18	33616724	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.C102G:p.F34L;ENSG00000141431:ENST00000585426:exon3:c.C102G:p.F34L;	2.88637294006008E-5	0.002
18	31196688	C	T	18	33616724	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.C102T:p.F34F;ENSG00000141431:ENST00000585426:exon3:c.C102T:p.F34F;	5.99944643161447E-5	0.006
18	31196689	T	A	18	33616725	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	stoploss SNV	ENSG00000141431:ENST00000585426:exon3:c.T103A:p.X35R;	3.93527966761365E-5	0.006
18	31196689	T	C	18	33616725	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	stoploss SNV	ENSG00000141431:ENST00000585426:exon3:c.T103C:p.X35R;	8.63225693782043E-5	0.006
18	31196689	T	G	18	33616725	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	stoploss SNV	ENSG00000141431:ENST00000585426:exon3:c.T103G:p.X35G;	8.63225693782043E-5	0.006
18	31196690	G	A	18	33616726	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000586327:exon3:c.G104A:p.C35Y;	4.59011002566824E-5	0.016
18	31196690	G	C	18	33616726	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	stoploss SNV	ENSG00000141431:ENST00000585426:exon3:c.G104C:p.X35S;	4.59011002566824E-5	0.018
18	31196690	G	T	18	33616726	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	stoploss SNV	ENSG00000141431:ENST00000585426:exon3:c.G104T:p.X35L;	4.59011002566824E-5	0.016
18	31196691	G	A	18	33616727	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.104+1G>A;ENST00000585426:exon3:c.104+1G>A)	.	.	8.71037690926497E-5	0.002
18	31196691	G	C	18	33616727	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.104+1G>C;ENST00000585426:exon3:c.104+1G>C)	.	.	8.71037690926497E-5	0.002
18	31196691	G	T	18	33616727	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.104+1G>T;ENST00000585426:exon3:c.104+1G>T)	.	.	8.71037690926497E-5	0.0
18	31196692	T	A	18	33616728	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.104+2T>A;ENST00000585426:exon3:c.104+2T>A)	.	.	3.93527966761365E-5	0.006
18	31196692	T	C	18	33616728	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.104+2T>C;ENST00000585426:exon3:c.104+2T>C)	.	.	8.63225693782043E-5	0.01
18	31196692	T	G	18	33616728	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000586327:exon3:c.104+2T>G;ENST00000585426:exon3:c.104+2T>G)	.	.	8.63225693782043E-5	0.01
18	31196693	A	C	18	33616729	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.04701645548368E-5	0.008
18	31196693	A	G	18	33616729	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.04701645548368E-5	0.008
18	31196693	A	T	18	33616729	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.04701645548368E-5	0.01
18	31196694	A	C	18	33616730	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.8057869992506E-5	0.004
18	31196694	A	G	18	33616730	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.8057869992506E-5	0.004
18	31196694	A	T	18	33616730	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.78929785447708E-5	0.004
18	31196695	G	A	18	33616731	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.71037690926497E-5	0.006
18	31196695	G	C	18	33616731	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.01163773767764E-5	0.004
18	31196695	G	T	18	33616731	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.01163773767764E-5	0.004
18	31196696	G	A	18	33616732	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.80650664972837E-4	0.002
18	31196696	G	C	18	33616732	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.80650664972837E-4	0.002
18	31196696	G	T	18	33616732	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.80650664972837E-4	0.002
18	31196697	G	A	18	33616733	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.48519371611462E-5	0.0
18	31196697	G	C	18	33616733	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.48519371611462E-5	0.0
18	31196697	G	T	18	33616733	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.48519371611462E-5	0.0
18	31196698	C	A	18	33616734	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.68952365742707E-5	0.002
18	31196698	C	G	18	33616734	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.68952365742707E-5	0.004
18	31196698	C	T	18	33616734	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.68952365742707E-5	0.002
18	31205717	G	A	18	33625753	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.69930370103191E-5	0.0
18	31205717	G	C	18	33625753	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.69930370103191E-5	0.0
18	31205717	G	T	18	33625753	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.69930370103191E-5	0.0
18	31205718	T	A	18	33625754	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	9.11159464097565E-5	0.004
18	31205718	T	C	18	33625754	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	9.11159464097565E-5	0.006
18	31205718	T	G	18	33625754	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	9.11159464097565E-5	0.004
18	31205719	T	A	18	33625755	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.50312366030491E-5	0.0
18	31205719	T	C	18	33625755	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.50312366030491E-5	0.0
18	31205719	T	G	18	33625755	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.50312366030491E-5	0.0
18	31205720	T	A	18	33625756	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00194593705381886	0.022
18	31205720	T	C	18	33625756	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00131227968434435	0.022
18	31205720	T	G	18	33625756	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00131227968434435	0.02
18	31205721	T	A	18	33625757	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.71006834835485E-4	0.024
18	31205721	T	C	18	33625757	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.96272761864999E-5	0.024
18	31205721	T	G	18	33625757	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.05952436000593E-4	0.024
18	31205722	A	C	18	33625758	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.34765385698842E-4	0.026
18	31205722	A	G	18	33625758	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.1714885049373E-4	0.03
18	31205722	A	T	18	33625758	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.87318669744779E-4	0.028
18	31205723	A	C	18	33625759	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.06651702251777E-5	0.0
18	31205723	A	G	18	33625759	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.06651702251777E-5	0.0
18	31205723	A	T	18	33625759	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.15079680499746E-5	0.0
18	31205724	T	A	18	33625760	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.81984393052081E-4	0.012
18	31205724	T	C	18	33625760	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.81984393052081E-4	0.012
18	31205724	T	G	18	33625760	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.81984393052081E-4	0.012
18	31205725	A	C	18	33625761	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.20590404879984E-5	0.0
18	31205725	A	G	18	33625761	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.20590404879984E-5	0.0
18	31205725	A	T	18	33625761	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.20590404879984E-5	0.0
18	31205726	T	A	18	33625762	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.27663100932972E-5	0.0
18	31205726	T	C	18	33625762	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.27663100932972E-5	0.0
18	31205726	T	G	18	33625762	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.27663100932972E-5	0.0
18	31205727	A	C	18	33625763	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.57-2A>C)	.	.	1.86764315709017E-5	0.0
18	31205727	A	G	18	33625763	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.57-2A>G)	.	.	1.86764315709017E-5	0.0
18	31205727	A	T	18	33625763	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.57-2A>T)	.	.	1.86764315709017E-5	0.0
18	31205728	G	A	18	33625764	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.57-1G>A)	.	.	6.77993525610891E-5	0.0
18	31205728	G	C	18	33625764	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.57-1G>C)	.	.	6.77993525610891E-5	0.0
18	31205728	G	T	18	33625764	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.57-1G>T)	.	.	6.77993525610891E-5	0.0
18	31205729	A	C	18	33625765	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000588038:exon3:c.A57C:p.R19S;	9.5210596949361E-4	0.0
18	31205729	A	G	18	33625765	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000588038:exon3:c.A57G:p.R19R;	9.5210596949361E-4	0.0
18	31205729	A	T	18	33625765	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000588038:exon3:c.A57T:p.R19S;	0.00112860188305749	0.0
18	31205730	T	A	18	33625766	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	stoploss SNV	ENSG00000141431:ENST00000588038:exon3:c.T58A:p.X20K;	3.51902500411369E-5	0.004
18	31205730	T	C	18	33625766	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	stoploss SNV	ENSG00000141431:ENST00000588038:exon3:c.T58C:p.X20Q;	3.51902500411369E-5	0.004
18	31205730	T	G	18	33625766	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	stoploss SNV	ENSG00000141431:ENST00000588038:exon3:c.T58G:p.X20E;	3.51902500411369E-5	0.004
18	31205870	A	C	18	33625906	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	5.28102787469058E-5	0.0
18	31205870	A	G	18	33625906	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	5.28102787469058E-5	0.0
18	31205870	A	T	18	33625906	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	5.28102787469058E-5	0.0
18	31205871	G	A	18	33625907	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.00442941089883373	0.086
18	31205871	G	C	18	33625907	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.00591435238370123	0.1
18	31205871	G	T	18	33625907	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.00591435238370123	0.112
18	31205872	G	A	18	33625908	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	4.36239231960749E-5	0.0
18	31205872	G	C	18	33625908	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	4.36239231960749E-5	0.002
18	31205872	G	T	18	33625908	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	4.36239231960749E-5	0.002
18	31205873	G	A	18	33625909	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.200+1G>A)	.	.	1.52211639126661E-5	0.006
18	31205873	G	C	18	33625909	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.200+1G>C)	.	.	1.52211639126661E-5	0.004
18	31205873	G	T	18	33625909	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.200+1G>T)	.	.	1.52211639126661E-5	0.004
18	31205874	T	A	18	33625910	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.200+2T>A)	.	.	1.74359842730815E-4	0.008
18	31205874	T	C	18	33625910	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.200+2T>C)	.	.	9.59360374706247E-5	0.012
18	31205874	T	G	18	33625910	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon3:c.200+2T>G)	.	.	9.59360374706247E-5	0.014
18	31205875	A	C	18	33625911	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.9635955398612E-5	0.008
18	31205875	A	G	18	33625911	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.9635955398612E-5	0.01
18	31205875	A	T	18	33625911	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.9635955398612E-5	0.006
18	31205876	A	C	18	33625912	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00113351354932708	0.032
18	31205876	A	G	18	33625912	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00113351354932708	0.032
18	31205876	A	T	18	33625912	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.32211738399007E-4	0.032
18	31205877	G	A	18	33625913	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.50709425600099E-5	0.006
18	31205877	G	C	18	33625913	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.29681478602798E-5	0.01
18	31205877	G	T	18	33625913	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.29681478602798E-5	0.01
18	31205878	T	A	18	33625914	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.9635955398612E-5	0.006
18	31205878	T	C	18	33625914	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.66982619474429E-5	0.006
18	31205878	T	G	18	33625914	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.66982619474429E-5	0.006
18	31205879	A	C	18	33625915	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.96404089075045E-5	0.002
18	31205879	A	G	18	33625915	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.96404089075045E-5	0.004
18	31205879	A	T	18	33625915	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.96404089075045E-5	0.004
18	31205880	C	A	18	33625916	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.55166398316256E-5	0.006
18	31205880	C	G	18	33625916	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.55166398316256E-5	0.006
18	31205880	C	T	18	33625916	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.55166398316256E-5	0.006
18	31206576	T	A	18	33626612	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.904509686249572	0.75
18	31206576	T	C	18	33626612	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.748
18	31206576	T	G	18	33626612	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.768
18	31206577	C	A	18	33626613	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.82298069278236E-5	0.034
18	31206577	C	G	18	33626613	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.75731016033385E-5	0.024
18	31206577	C	T	18	33626613	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	9.97078489738063E-5	0.062
18	31206578	T	A	18	33626614	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.78
18	31206578	T	C	18	33626614	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.778
18	31206578	T	G	18	33626614	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.774
18	31206579	T	A	18	33626615	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.11195117146052E-4	0.106
18	31206579	T	C	18	33626615	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.79811963099041E-4	0.108
18	31206579	T	G	18	33626615	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.61061857615661E-4	0.106
18	31206580	C	A	18	33626616	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.986152223221829	0.864
18	31206580	C	G	18	33626616	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.986152223221829	0.87
18	31206580	C	T	18	33626616	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.992648088255867	0.868
18	31206581	C	A	18	33626617	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.991575050613388	0.864
18	31206581	C	G	18	33626617	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.986152223221829	0.87
18	31206581	C	T	18	33626617	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.992648088255867	0.868
18	31206582	C	A	18	33626618	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.430282665092031	0.524
18	31206582	C	G	18	33626618	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.401468755823008	0.5
18	31206582	C	T	18	33626618	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.430282665092031	0.58
18	31206583	T	A	18	33626619	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.774
18	31206583	T	C	18	33626619	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.897180693818052	0.768
18	31206583	T	G	18	33626619	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.897180693818052	0.768
18	31206584	T	A	18	33626620	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.748
18	31206584	T	C	18	33626620	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.77
18	31206584	T	G	18	33626620	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.911103709025019	0.768
18	31206585	C	A	18	33626621	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.14131882789118E-5	0.02
18	31206585	C	G	18	33626621	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.24115234095466E-4	0.034
18	31206585	C	T	18	33626621	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.02125184266123E-5	0.02
18	31206586	A	C	18	33626622	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon4:c.201-2A>C)	.	.	0.00835994041690669	0.14
18	31206586	A	G	18	33626622	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon4:c.201-2A>G)	.	.	0.00835994041690669	0.138
18	31206586	A	T	18	33626622	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon4:c.201-2A>T)	.	.	0.00940319692440329	0.192
18	31206587	G	A	18	33626623	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon4:c.201-1G>A)	.	.	0.342504687689169	0.47
18	31206587	G	C	18	33626623	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon4:c.201-1G>C)	.	.	0.20681269843433	0.406
18	31206587	G	T	18	33626623	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000588038:exon4:c.201-1G>T)	.	.	0.342504687689169	0.478
18	31206588	G	A	18	33626624	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.992648088255867	0.87
18	31206588	G	C	18	33626624	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.986152223221829	0.87
18	31206588	G	T	18	33626624	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.992648088255867	0.864
18	31206589	A	C	18	33626625	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.0123695410428905	0.194
18	31206589	A	G	18	33626625	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.0123695410428905	0.188
18	31206589	A	T	18	33626625	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.0123695410428905	0.18
18	31206814	A	C	18	33626850	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803605016897643	0.744
18	31206814	A	G	18	33626850	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803605016897643	0.744
18	31206814	A	T	18	33626850	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803133416089577	0.746
18	31206815	A	C	18	33626851	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31206815	A	G	18	33626851	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31206815	A	T	18	33626851	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.796
18	31206816	T	A	18	33626852	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.796
18	31206816	T	C	18	33626852	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31206816	T	G	18	33626852	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31206817	A	C	18	33626853	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31206817	A	G	18	33626853	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31206817	A	T	18	33626853	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.796
18	31206818	T	A	18	33626854	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.796
18	31206818	T	C	18	33626854	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31206818	T	G	18	33626854	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31206819	T	A	18	33626855	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.798
18	31206819	T	C	18	33626855	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.79
18	31206819	T	G	18	33626855	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.796
18	31206820	T	A	18	33626856	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803133416089577	0.748
18	31206820	T	C	18	33626856	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803605016897643	0.746
18	31206820	T	G	18	33626856	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803605016897643	0.744
18	31206821	T	A	18	33626857	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803133416089577	0.746
18	31206821	T	C	18	33626857	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803605016897643	0.744
18	31206821	T	G	18	33626857	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803605016897643	0.744
18	31206822	C	A	18	33626858	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.987045631825906	0.854
18	31206822	C	G	18	33626858	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988015702533422	0.852
18	31206822	C	T	18	33626858	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.987045631825906	0.852
18	31206823	C	A	18	33626859	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988015702533422	0.872
18	31206823	C	G	18	33626859	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988015702533422	0.87
18	31206823	C	T	18	33626859	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988015702533422	0.868
18	31206824	A	C	18	33626860	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.138-2A>C;ENST00000588038:exon5:c.333-2A>C;ENST00000588741:exon3:c.57-2A>C;ENST00000593235:exon3:c.57-2A>C)	.	.	0.870511414983173	0.788
18	31206824	A	G	18	33626860	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.138-2A>G;ENST00000588038:exon5:c.333-2A>G;ENST00000588741:exon3:c.57-2A>G;ENST00000593235:exon3:c.57-2A>G)	.	.	0.870511414983173	0.774
18	31206824	A	T	18	33626860	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.138-2A>T;ENST00000588038:exon5:c.333-2A>T;ENST00000588741:exon3:c.57-2A>T;ENST00000593235:exon3:c.57-2A>T)	.	.	0.847852932600146	0.806
18	31206825	G	A	18	33626861	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.138-1G>A;ENST00000588038:exon5:c.333-1G>A;ENST00000588741:exon3:c.57-1G>A;ENST00000593235:exon3:c.57-1G>A)	.	.	0.987045631825906	0.852
18	31206825	G	C	18	33626861	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.138-1G>C;ENST00000588038:exon5:c.333-1G>C;ENST00000588741:exon3:c.57-1G>C;ENST00000593235:exon3:c.57-1G>C)	.	.	0.988015702533422	0.852
18	31206825	G	T	18	33626861	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.138-1G>T;ENST00000588038:exon5:c.333-1G>T;ENST00000588741:exon3:c.57-1G>T;ENST00000593235:exon3:c.57-1G>T)	.	.	0.988015702533422	0.854
18	31206826	T	A	18	33626862	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000593235:exon3:c.T57A:p.S19R;ENSG00000141431:ENST00000593195:exon3:c.T138A:p.S46R;ENSG00000141431:ENST00000588741:exon3:c.T57A:p.S19R;	0.847852932600146	0.798
18	31206826	T	C	18	33626862	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000593235:exon3:c.T57C:p.S19S;ENSG00000141431:ENST00000593195:exon3:c.T138C:p.S46S;ENSG00000141431:ENST00000588741:exon3:c.T57C:p.S19S;	0.870511414983173	0.79
18	31206826	T	G	18	33626862	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000593235:exon3:c.T57G:p.S19R;ENSG00000141431:ENST00000593195:exon3:c.T138G:p.S46R;ENSG00000141431:ENST00000588741:exon3:c.T57G:p.S19R;	0.870511414983173	0.79
18	31206827	C	A	18	33626863	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000593235:exon3:c.C58A:p.L20M;ENSG00000141431:ENST00000593195:exon3:c.C139A:p.L47M;ENSG00000141431:ENST00000588741:exon3:c.C58A:p.L20M;	0.988015702533422	0.854
18	31206827	C	G	18	33626863	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000593235:exon3:c.C58G:p.L20V;ENSG00000141431:ENST00000593195:exon3:c.C139G:p.L47V;ENSG00000141431:ENST00000588741:exon3:c.C58G:p.L20V;	0.988015702533422	0.852
18	31206827	C	T	18	33626863	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000593235:exon3:c.C58T:p.L20L;ENSG00000141431:ENST00000593195:exon3:c.C139T:p.L47L;ENSG00000141431:ENST00000588741:exon3:c.C58T:p.L20L;	0.987045631825906	0.852
18	31207032	C	A	18	33627068	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.987045631825906	0.854
18	31207032	C	G	18	33627068	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.988015702533422	0.852
18	31207032	C	T	18	33627068	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.987045631825906	0.85
18	31207033	G	A	18	33627069	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.988015702533422	0.864
18	31207033	G	C	18	33627069	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.988015702533422	0.864
18	31207033	G	T	18	33627069	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.988015702533422	0.864
18	31207034	G	A	18	33627070	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.987045631825906	0.852
18	31207034	G	C	18	33627070	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.988015702533422	0.852
18	31207034	G	T	18	33627070	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	0.987045631825906	0.854
18	31207035	G	A	18	33627071	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.346+1G>A;ENST00000592541:exon3:c.254+1G>A;ENST00000585426:exon4:c.302+1G>A;ENST00000588741:exon3:c.265+1G>A;ENST00000590225:exon3:c.254+1G>A;ENST00000593235:exon3:c.265+1G>A;ENST00000590973:exon2:c.254+1G>A)	.	.	0.987045631825906	0.852
18	31207035	G	C	18	33627071	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.346+1G>C;ENST00000592541:exon3:c.254+1G>C;ENST00000585426:exon4:c.302+1G>C;ENST00000588741:exon3:c.265+1G>C;ENST00000590225:exon3:c.254+1G>C;ENST00000593235:exon3:c.265+1G>C;ENST00000590973:exon2:c.254+1G>C)	.	.	0.988015702533422	0.852
18	31207035	G	T	18	33627071	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.346+1G>T;ENST00000592541:exon3:c.254+1G>T;ENST00000585426:exon4:c.302+1G>T;ENST00000588741:exon3:c.265+1G>T;ENST00000590225:exon3:c.254+1G>T;ENST00000593235:exon3:c.265+1G>T;ENST00000590973:exon2:c.254+1G>T)	.	.	0.987045631825906	0.854
18	31207036	T	A	18	33627072	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.346+2T>A;ENST00000592541:exon3:c.254+2T>A;ENST00000585426:exon4:c.302+2T>A;ENST00000588741:exon3:c.265+2T>A;ENST00000590225:exon3:c.254+2T>A;ENST00000593235:exon3:c.265+2T>A;ENST00000590973:exon2:c.254+2T>A)	.	.	0.847852932600146	0.802
18	31207036	T	C	18	33627072	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.346+2T>C;ENST00000592541:exon3:c.254+2T>C;ENST00000585426:exon4:c.302+2T>C;ENST00000588741:exon3:c.265+2T>C;ENST00000590225:exon3:c.254+2T>C;ENST00000593235:exon3:c.265+2T>C;ENST00000590973:exon2:c.254+2T>C)	.	.	0.847852932600146	0.796
18	31207036	T	G	18	33627072	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000593195:exon3:c.346+2T>G;ENST00000592541:exon3:c.254+2T>G;ENST00000585426:exon4:c.302+2T>G;ENST00000588741:exon3:c.265+2T>G;ENST00000590225:exon3:c.254+2T>G;ENST00000593235:exon3:c.265+2T>G;ENST00000590973:exon2:c.254+2T>G)	.	.	0.847852932600146	0.798
18	31207037	A	C	18	33627073	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.79
18	31207037	A	G	18	33627073	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.870511414983173	0.79
18	31207037	A	T	18	33627073	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.796
18	31207038	G	A	18	33627074	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.987045631825906	0.852
18	31207038	G	C	18	33627074	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988015702533422	0.852
18	31207038	G	T	18	33627074	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.987045631825906	0.854
18	31207039	G	A	18	33627075	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.430282665092031	0.516
18	31207039	G	C	18	33627075	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.430282665092031	0.552
18	31207039	G	T	18	33627075	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.430282665092031	0.516
18	31207040	T	A	18	33627076	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.796
18	31207040	T	C	18	33627076	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.79
18	31207040	T	G	18	33627076	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.847852932600146	0.79
18	31207041	A	C	18	33627077	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803605016897643	0.742
18	31207041	A	G	18	33627077	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803605016897643	0.748
18	31207041	A	T	18	33627077	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.803133416089577	0.748
18	31207042	C	A	18	33627078	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988015702533422	0.87
18	31207042	C	G	18	33627078	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988015702533422	0.87
18	31207042	C	T	18	33627078	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988015702533422	0.872
18	31221773	T	A	18	33641809	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00308190960638898	0.206
18	31221773	T	C	18	33641809	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00187248846651352	0.188
18	31221773	T	G	18	33641809	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00187248846651352	0.188
18	31221774	C	A	18	33641810	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.47991472950943	0.578
18	31221774	C	G	18	33641810	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.47991472950943	0.558
18	31221774	C	T	18	33641810	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.416629060770849	0.58
18	31221775	A	C	18	33641811	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00255601202233356	0.224
18	31221775	A	G	18	33641811	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00255601202233356	0.224
18	31221775	A	T	18	33641811	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00255601202233356	0.25
18	31221776	T	A	18	33641812	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0604281628705555	0.272
18	31221776	T	C	18	33641812	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0604281628705555	0.266
18	31221776	T	G	18	33641812	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0604281628705555	0.268
18	31221777	C	A	18	33641813	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.995030058536757	0.91
18	31221777	C	G	18	33641813	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.995030058536757	0.892
18	31221777	C	T	18	33641813	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.994463269283841	0.926
18	31221778	T	A	18	33641814	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.96889983726991E-5	0.066
18	31221778	T	C	18	33641814	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.17827284202598E-5	0.026
18	31221778	T	G	18	33641814	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.17827284202598E-5	0.026
18	31221779	T	A	18	33641815	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0456688288409894	0.198
18	31221779	T	C	18	33641815	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0457991203583889	0.214
18	31221779	T	G	18	33641815	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0457991203583889	0.214
18	31221780	G	A	18	33641816	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.44114687161538E-5	0.018
18	31221780	G	C	18	33641816	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.72814414503852E-5	0.016
18	31221780	G	T	18	33641816	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.44114687161538E-5	0.016
18	31221781	T	A	18	33641817	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00255601202233356	0.196
18	31221781	T	C	18	33641817	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00308190960638898	0.204
18	31221781	T	G	18	33641817	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00308190960638898	0.204
18	31221782	T	A	18	33641818	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.852530306309777	0.856
18	31221782	T	C	18	33641818	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.833166263982914	0.848
18	31221782	T	G	18	33641818	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.833166263982914	0.848
18	31221783	A	C	18	33641819	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.138-2A>C;ENST00000586596:exon3:c.104-2A>C;ENST00000588741:exon4:c.266-2A>C;ENST00000590973:exon3:c.255-2A>C)	.	.	0.852530306309777	0.852
18	31221783	A	G	18	33641819	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.138-2A>G;ENST00000586596:exon3:c.104-2A>G;ENST00000588741:exon4:c.266-2A>G;ENST00000590973:exon3:c.255-2A>G)	.	.	0.852530306309777	0.852
18	31221783	A	T	18	33641819	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.138-2A>T;ENST00000586596:exon3:c.104-2A>T;ENST00000588741:exon4:c.266-2A>T;ENST00000590973:exon3:c.255-2A>T)	.	.	0.852530306309777	0.848
18	31221784	G	A	18	33641820	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.138-1G>A;ENST00000586596:exon3:c.104-1G>A;ENST00000588741:exon4:c.266-1G>A;ENST00000590973:exon3:c.255-1G>A)	.	.	0.993824108016147	0.936
18	31221784	G	C	18	33641820	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.138-1G>C;ENST00000586596:exon3:c.104-1G>C;ENST00000588741:exon4:c.266-1G>C;ENST00000590973:exon3:c.255-1G>C)	.	.	0.993824108016147	0.934
18	31221784	G	T	18	33641820	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.138-1G>T;ENST00000586596:exon3:c.104-1G>T;ENST00000588741:exon4:c.266-1G>T;ENST00000590973:exon3:c.255-1G>T)	.	.	0.993824108016147	0.936
18	31221785	A	C	18	33641821	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A138C:p.R46S;	0.936299306359579	0.84
18	31221785	A	G	18	33641821	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A138G:p.R46R;	0.936299306359579	0.84
18	31221785	A	T	18	33641821	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A138T:p.R46S;	0.936299306359579	0.84
18	31221786	A	C	18	33641822	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A139C:p.N47H;	0.936299306359579	0.84
18	31221786	A	G	18	33641822	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A139G:p.N47D;	0.936299306359579	0.84
18	31221786	A	T	18	33641822	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A139T:p.N47Y;	0.936299306359579	0.838
18	31221787	A	C	18	33641823	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A140C:p.N47T;	0.936299306359579	0.84
18	31221787	A	G	18	33641823	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A140G:p.N47S;	0.936299306359579	0.84
18	31221787	A	T	18	33641823	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon3:c.A140T:p.N47I;	0.936299306359579	0.838
18	31221788	G	A	18	33641824	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.140+1G>A;ENST00000586596:exon3:c.106+1G>A;ENST00000588741:exon4:c.268+1G>A;ENST00000590973:exon3:c.257+1G>A)	.	.	0.478618530915245	0.628
18	31221788	G	C	18	33641824	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.140+1G>C;ENST00000586596:exon3:c.106+1G>C;ENST00000588741:exon4:c.268+1G>C;ENST00000590973:exon3:c.257+1G>C)	.	.	0.442276358439962	0.62
18	31221788	G	T	18	33641824	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.140+1G>T;ENST00000586596:exon3:c.106+1G>T;ENST00000588741:exon4:c.268+1G>T;ENST00000590973:exon3:c.257+1G>T)	.	.	0.478618530915245	0.628
18	31221789	T	A	18	33641825	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.140+2T>A;ENST00000586596:exon3:c.106+2T>A;ENST00000588741:exon4:c.268+2T>A;ENST00000590973:exon3:c.257+2T>A)	.	.	0.936299306359579	0.838
18	31221789	T	C	18	33641825	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.140+2T>C;ENST00000586596:exon3:c.106+2T>C;ENST00000588741:exon4:c.268+2T>C;ENST00000590973:exon3:c.257+2T>C)	.	.	0.936299306359579	0.84
18	31221789	T	G	18	33641825	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon3:c.140+2T>G;ENST00000586596:exon3:c.106+2T>G;ENST00000588741:exon4:c.268+2T>G;ENST00000590973:exon3:c.257+2T>G)	.	.	0.936299306359579	0.84
18	31221790	A	C	18	33641826	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.936299306359579	0.84
18	31221790	A	G	18	33641826	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.936299306359579	0.84
18	31221790	A	T	18	33641826	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.936299306359579	0.84
18	31221791	A	C	18	33641827	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.943420802424773	0.796
18	31221791	A	G	18	33641827	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.943420802424773	0.794
18	31221791	A	T	18	33641827	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.942547716345633	0.822
18	31221792	G	A	18	33641828	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.579448161422323	0.568
18	31221792	G	C	18	33641828	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.45611331169849	0.576
18	31221792	G	T	18	33641828	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.45537279992041	0.568
18	31221793	T	A	18	33641829	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0692918511874918	0.28
18	31221793	T	C	18	33641829	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0604281628705555	0.274
18	31221793	T	G	18	33641829	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0604281628705555	0.274
18	31221794	A	C	18	33641830	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.952641827265979	0.766
18	31221794	A	G	18	33641830	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.943420802424773	0.784
18	31221794	A	T	18	33641830	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.943420802424773	0.804
18	31221795	A	C	18	33641831	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0604281628705555	0.244
18	31221795	A	G	18	33641831	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0604281628705555	0.244
18	31221795	A	T	18	33641831	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0604281628705555	0.268
18	31224846	T	A	18	33644882	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.951541389671599	0.636
18	31224846	T	C	18	33644882	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.414926566519948	0.478
18	31224846	T	G	18	33644882	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.899807650502076	0.572
18	31224847	T	A	18	33644883	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.986445381567475	0.798
18	31224847	T	C	18	33644883	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.904409705413312	0.646
18	31224847	T	G	18	33644883	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.990058121939127	0.784
18	31224848	T	A	18	33644884	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.954970552218987	0.61
18	31224848	T	C	18	33644884	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.538885751410187	0.514
18	31224848	T	G	18	33644884	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.964271771220273	0.586
18	31224849	A	C	18	33644885	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0111013128023547	0.17
18	31224849	A	G	18	33644885	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0125549981909775	0.112
18	31224849	A	T	18	33644885	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0389289773368101	0.238
18	31224850	T	A	18	33644886	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.118671714698795	0.264
18	31224850	T	C	18	33644886	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00635381691153476	0.074
18	31224850	T	G	18	33644886	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999853897983567	0.938
18	31224851	T	A	18	33644887	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.126146249968424	0.23
18	31224851	T	C	18	33644887	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00201673718278066	0.052
18	31224851	T	G	18	33644887	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0241068663051055	0.184
18	31224852	T	A	18	33644888	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.177409577746524	0.362
18	31224852	T	C	18	33644888	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0103761774847843	0.094
18	31224852	T	G	18	33644888	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.143418078613955	0.34
18	31224853	T	A	18	33644889	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.623401022062396	0.634
18	31224853	T	C	18	33644889	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0819693028088045	0.16
18	31224853	T	G	18	33644889	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.844365450844133	0.606
18	31224854	C	A	18	33644890	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00311873071798064	0.158
18	31224854	C	G	18	33644890	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0320385015442462	0.212
18	31224854	C	T	18	33644890	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00403363417863817	0.088
18	31224855	T	A	18	33644891	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0264404645799688	0.326
18	31224855	T	C	18	33644891	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.04483270892416E-4	0.026
18	31224855	T	G	18	33644891	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.997272983780831	0.724
18	31224856	A	C	18	33644892	y	y	splicing	ASXL3(NM_030632:exon3:c.138-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.141-2A>C;ENST00000269197:exon3:c.138-2A>C;ENST00000593195:exon4:c.347-2A>C;ENST00000590189:exon3:c.129-2A>C;ENST00000592541:exon4:c.255-2A>C;ENST00000586596:exon4:c.107-2A>C;ENST00000586327:exon4:c.105-2A>C;ENST00000585426:exon5:c.303-2A>C;ENST00000588741:exon5:c.269-2A>C;ENST00000590225:exon4:c.255-2A>C;ENST00000590973:exon4:c.258-2A>C)	.	.	0.999988247793601	0.932
18	31224856	A	G	18	33644892	y	y	splicing	ASXL3(NM_030632:exon3:c.138-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.141-2A>G;ENST00000269197:exon3:c.138-2A>G;ENST00000593195:exon4:c.347-2A>G;ENST00000590189:exon3:c.129-2A>G;ENST00000592541:exon4:c.255-2A>G;ENST00000586596:exon4:c.107-2A>G;ENST00000586327:exon4:c.105-2A>G;ENST00000585426:exon5:c.303-2A>G;ENST00000588741:exon5:c.269-2A>G;ENST00000590225:exon4:c.255-2A>G;ENST00000590973:exon4:c.258-2A>G)	.	.	0.999988247793601	0.932
18	31224856	A	T	18	33644892	y	y	splicing	ASXL3(NM_030632:exon3:c.138-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.141-2A>T;ENST00000269197:exon3:c.138-2A>T;ENST00000593195:exon4:c.347-2A>T;ENST00000590189:exon3:c.129-2A>T;ENST00000592541:exon4:c.255-2A>T;ENST00000586596:exon4:c.107-2A>T;ENST00000586327:exon4:c.105-2A>T;ENST00000585426:exon5:c.303-2A>T;ENST00000588741:exon5:c.269-2A>T;ENST00000590225:exon4:c.255-2A>T;ENST00000590973:exon4:c.258-2A>T)	.	.	0.999988247793601	0.932
18	31224857	G	A	18	33644893	y	y	splicing	ASXL3(NM_030632:exon3:c.138-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.141-1G>A;ENST00000269197:exon3:c.138-1G>A;ENST00000593195:exon4:c.347-1G>A;ENST00000590189:exon3:c.129-1G>A;ENST00000592541:exon4:c.255-1G>A;ENST00000586596:exon4:c.107-1G>A;ENST00000586327:exon4:c.105-1G>A;ENST00000585426:exon5:c.303-1G>A;ENST00000588741:exon5:c.269-1G>A;ENST00000590225:exon4:c.255-1G>A;ENST00000590973:exon4:c.258-1G>A)	.	.	0.999990361384395	0.938
18	31224857	G	C	18	33644893	y	y	splicing	ASXL3(NM_030632:exon3:c.138-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.141-1G>C;ENST00000269197:exon3:c.138-1G>C;ENST00000593195:exon4:c.347-1G>C;ENST00000590189:exon3:c.129-1G>C;ENST00000592541:exon4:c.255-1G>C;ENST00000586596:exon4:c.107-1G>C;ENST00000586327:exon4:c.105-1G>C;ENST00000585426:exon5:c.303-1G>C;ENST00000588741:exon5:c.269-1G>C;ENST00000590225:exon4:c.255-1G>C;ENST00000590973:exon4:c.258-1G>C)	.	.	0.999990361384395	0.938
18	31224857	G	T	18	33644893	y	y	splicing	ASXL3(NM_030632:exon3:c.138-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.141-1G>T;ENST00000269197:exon3:c.138-1G>T;ENST00000593195:exon4:c.347-1G>T;ENST00000590189:exon3:c.129-1G>T;ENST00000592541:exon4:c.255-1G>T;ENST00000586596:exon4:c.107-1G>T;ENST00000586327:exon4:c.105-1G>T;ENST00000585426:exon5:c.303-1G>T;ENST00000588741:exon5:c.269-1G>T;ENST00000590225:exon4:c.255-1G>T;ENST00000590973:exon4:c.258-1G>T)	.	.	0.999990361384395	0.938
18	31224858	T	A	18	33644894	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.T138A:p.S46R;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000586327:exon4:c.T105A:p.C35X;	0.0162179089609803	0.19
18	31224858	T	C	18	33644894	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon3:c.T138C:p.S46S;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.T129C:p.S43S;ENSG00000141431:ENST00000586327:exon4:c.T105C:p.C35C;ENSG00000141431:ENST00000269197:exon3:c.T138C:p.S46S;ENSG00000141431:ENST00000592288:exon4:c.T141C:p.N47N;	2.40958200877289E-4	0.008
18	31224858	T	G	18	33644894	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.T138G:p.S46R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.T129G:p.S43R;ENSG00000141431:ENST00000586327:exon4:c.T105G:p.C35W;ENSG00000141431:ENST00000269197:exon3:c.T138G:p.S46R;ENSG00000141431:ENST00000592288:exon4:c.T141G:p.N47K;	0.0615019533050824	0.234
18	31224859	G	A	18	33644895	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.G139A:p.G47R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.G130A:p.G44R;ENSG00000141431:ENST00000586327:exon4:c.G106A:p.G36R;ENSG00000141431:ENST00000269197:exon3:c.G139A:p.G47R;ENSG00000141431:ENST00000592288:exon4:c.G142A:p.G48R;	0.988834738608788	0.826
18	31224859	G	C	18	33644895	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.G139C:p.G47R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.G130C:p.G44R;ENSG00000141431:ENST00000586327:exon4:c.G106C:p.G36R;ENSG00000141431:ENST00000269197:exon3:c.G139C:p.G47R;ENSG00000141431:ENST00000592288:exon4:c.G142C:p.G48R;	0.984085368754088	0.836
18	31224859	G	T	18	33644895	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon3:c.G139T:p.G47X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000590189:exon3:c.G130T:p.G44X;ENSG00000141431:ENST00000586327:exon4:c.G106T:p.G36X;ENSG00000141431:ENST00000269197:exon3:c.G139T:p.G47X;ENSG00000141431:ENST00000592288:exon4:c.G142T:p.G48X;	0.986475172586073	0.926
18	31224964	A	C	18	33645000	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.A244C:p.K82Q;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.A235C:p.K79Q;ENSG00000141431:ENST00000586327:exon4:c.A211C:p.K71Q;ENSG00000141431:ENST00000269197:exon3:c.A244C:p.K82Q;ENSG00000141431:ENST00000592288:exon4:c.A247C:p.K83Q;	0.856306162993784	0.696
18	31224964	A	G	18	33645000	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.A244G:p.K82E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.A235G:p.K79E;ENSG00000141431:ENST00000586327:exon4:c.A211G:p.K71E;ENSG00000141431:ENST00000269197:exon3:c.A244G:p.K82E;ENSG00000141431:ENST00000592288:exon4:c.A247G:p.K83E;	0.501030986516509	0.546
18	31224964	A	T	18	33645000	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon3:c.A244T:p.K82X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000590189:exon3:c.A235T:p.K79X;ENSG00000141431:ENST00000586327:exon4:c.A211T:p.K71X;ENSG00000141431:ENST00000269197:exon3:c.A244T:p.K82X;ENSG00000141431:ENST00000592288:exon4:c.A247T:p.K83X;	0.955163483668477	0.72
18	31224965	A	C	18	33645001	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.A245C:p.K82T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.A236C:p.K79T;ENSG00000141431:ENST00000586327:exon4:c.A212C:p.K71T;ENSG00000141431:ENST00000269197:exon3:c.A245C:p.K82T;ENSG00000141431:ENST00000592288:exon4:c.A248C:p.K83T;	0.657983211188668	0.608
18	31224965	A	G	18	33645001	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.A245G:p.K82R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.A236G:p.K79R;ENSG00000141431:ENST00000586327:exon4:c.A212G:p.K71R;ENSG00000141431:ENST00000269197:exon3:c.A245G:p.K82R;ENSG00000141431:ENST00000592288:exon4:c.A248G:p.K83R;	0.219025219669517	0.442
18	31224965	A	T	18	33645001	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.A245T:p.K82I;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.A236T:p.K79I;ENSG00000141431:ENST00000586327:exon4:c.A212T:p.K71I;ENSG00000141431:ENST00000269197:exon3:c.A245T:p.K82I;ENSG00000141431:ENST00000592288:exon4:c.A248T:p.K83I;	0.952756247730488	0.666
18	31224966	A	C	18	33645002	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.A246C:p.K82N;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.A237C:p.K79N;ENSG00000141431:ENST00000586327:exon4:c.A213C:p.K71N;ENSG00000141431:ENST00000269197:exon3:c.A246C:p.K82N;ENSG00000141431:ENST00000592288:exon4:c.A249C:p.K83N;	0.623080225858334	0.618
18	31224966	A	G	18	33645002	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon3:c.A246G:p.K82K;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.A237G:p.K79K;ENSG00000141431:ENST00000586327:exon4:c.A213G:p.K71K;ENSG00000141431:ENST00000269197:exon3:c.A246G:p.K82K;ENSG00000141431:ENST00000592288:exon4:c.A249G:p.K83K;	0.00136008980559533	0.056
18	31224966	A	T	18	33645002	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon3:c.A246T:p.K82N;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon3:c.A237T:p.K79N;ENSG00000141431:ENST00000586327:exon4:c.A213T:p.K71N;ENSG00000141431:ENST00000269197:exon3:c.A246T:p.K82N;ENSG00000141431:ENST00000592288:exon4:c.A249T:p.K83N;	0.885682442301959	0.702
18	31224967	G	A	18	33645003	y	y	splicing	ASXL3(NM_030632:exon3:c.246+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.249+1G>A;ENST00000269197:exon3:c.246+1G>A;ENST00000593195:exon4:c.455+1G>A;ENST00000590189:exon3:c.237+1G>A;ENST00000592541:exon4:c.363+1G>A;ENST00000586596:exon4:c.215+1G>A;ENST00000586327:exon4:c.213+1G>A;ENST00000585426:exon5:c.411+1G>A;ENST00000588741:exon5:c.377+1G>A;ENST00000590225:exon4:c.363+1G>A;ENST00000590973:exon4:c.366+1G>A)	.	.	0.999990361384395	0.938
18	31224967	G	C	18	33645003	y	y	splicing	ASXL3(NM_030632:exon3:c.246+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.249+1G>C;ENST00000269197:exon3:c.246+1G>C;ENST00000593195:exon4:c.455+1G>C;ENST00000590189:exon3:c.237+1G>C;ENST00000592541:exon4:c.363+1G>C;ENST00000586596:exon4:c.215+1G>C;ENST00000586327:exon4:c.213+1G>C;ENST00000585426:exon5:c.411+1G>C;ENST00000588741:exon5:c.377+1G>C;ENST00000590225:exon4:c.363+1G>C;ENST00000590973:exon4:c.366+1G>C)	.	.	0.999990361384395	0.938
18	31224967	G	T	18	33645003	y	y	splicing	ASXL3(NM_030632:exon3:c.246+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.249+1G>T;ENST00000269197:exon3:c.246+1G>T;ENST00000593195:exon4:c.455+1G>T;ENST00000590189:exon3:c.237+1G>T;ENST00000592541:exon4:c.363+1G>T;ENST00000586596:exon4:c.215+1G>T;ENST00000586327:exon4:c.213+1G>T;ENST00000585426:exon5:c.411+1G>T;ENST00000588741:exon5:c.377+1G>T;ENST00000590225:exon4:c.363+1G>T;ENST00000590973:exon4:c.366+1G>T)	.	.	0.999990361384395	0.938
18	31224968	T	A	18	33645004	y	y	splicing	ASXL3(NM_030632:exon3:c.246+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.249+2T>A;ENST00000269197:exon3:c.246+2T>A;ENST00000593195:exon4:c.455+2T>A;ENST00000590189:exon3:c.237+2T>A;ENST00000592541:exon4:c.363+2T>A;ENST00000586596:exon4:c.215+2T>A;ENST00000586327:exon4:c.213+2T>A;ENST00000585426:exon5:c.411+2T>A;ENST00000588741:exon5:c.377+2T>A;ENST00000590225:exon4:c.363+2T>A;ENST00000590973:exon4:c.366+2T>A)	.	.	0.999988247793601	0.932
18	31224968	T	C	18	33645004	y	y	splicing	ASXL3(NM_030632:exon3:c.246+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.249+2T>C;ENST00000269197:exon3:c.246+2T>C;ENST00000593195:exon4:c.455+2T>C;ENST00000590189:exon3:c.237+2T>C;ENST00000592541:exon4:c.363+2T>C;ENST00000586596:exon4:c.215+2T>C;ENST00000586327:exon4:c.213+2T>C;ENST00000585426:exon5:c.411+2T>C;ENST00000588741:exon5:c.377+2T>C;ENST00000590225:exon4:c.363+2T>C;ENST00000590973:exon4:c.366+2T>C)	.	.	0.99340600729494	0.692
18	31224968	T	G	18	33645004	y	y	splicing	ASXL3(NM_030632:exon3:c.246+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon4:c.249+2T>G;ENST00000269197:exon3:c.246+2T>G;ENST00000593195:exon4:c.455+2T>G;ENST00000590189:exon3:c.237+2T>G;ENST00000592541:exon4:c.363+2T>G;ENST00000586596:exon4:c.215+2T>G;ENST00000586327:exon4:c.213+2T>G;ENST00000585426:exon5:c.411+2T>G;ENST00000588741:exon5:c.377+2T>G;ENST00000590225:exon4:c.363+2T>G;ENST00000590973:exon4:c.366+2T>G)	.	.	0.999988247793601	0.932
18	31224969	A	C	18	33645005	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999734243315143	0.836
18	31224969	A	G	18	33645005	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.197608628873971	0.33
18	31224969	A	T	18	33645005	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.989215432088243	0.852
18	31224970	A	C	18	33645006	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.992727907859878	0.766
18	31224970	A	G	18	33645006	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.9905434594091	0.836
18	31224970	A	T	18	33645006	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.993842095458061	0.802
18	31224971	G	A	18	33645007	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999069912020552	0.978
18	31224971	G	C	18	33645007	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998122652467332	0.902
18	31224971	G	T	18	33645007	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999886850022103	0.922
18	31224972	T	A	18	33645008	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.951677259352637	0.7
18	31224972	T	C	18	33645008	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.812241733161605	0.674
18	31224972	T	G	18	33645008	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.889124954983289	0.656
18	31224973	T	A	18	33645009	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.47606634991806E-4	0.0
18	31224973	T	C	18	33645009	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00213087855210946	0.014
18	31224973	T	G	18	33645009	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.89371736124219E-4	0.002
18	31224974	G	A	18	33645010	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.92158196910856E-4	0.034
18	31224974	G	C	18	33645010	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.47369164661595E-4	0.014
18	31224974	G	T	18	33645010	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.73983026986272E-4	0.014
18	31226197	A	C	18	33646233	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00649898371829472	0.398
18	31226197	A	G	18	33646233	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.153194434843268	0.318
18	31226197	A	T	18	33646233	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0149514577842576	0.4
18	31226198	A	C	18	33646234	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0179301415912037	0.34
18	31226198	A	G	18	33646234	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998574303749126	0.924
18	31226198	A	T	18	33646234	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0128114265787392	0.394
18	31226199	A	C	18	33646235	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0247934379864699	0.396
18	31226199	A	G	18	33646235	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999435715914026	0.93
18	31226199	A	T	18	33646235	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0145830502602563	0.458
18	31226200	A	C	18	33646236	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.1919656439496E-4	0.416
18	31226200	A	G	18	33646236	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999757996172806	0.912
18	31226200	A	T	18	33646236	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.08593685734287E-4	0.364
18	31226201	T	A	18	33646237	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.283206507386214	0.474
18	31226201	T	C	18	33646237	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.10839824350613E-4	0.05
18	31226201	T	G	18	33646237	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.997574495849977	0.918
18	31226202	A	C	18	33646238	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.1690990937366E-4	0.112
18	31226202	A	G	18	33646238	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.35070667645498E-4	0.062
18	31226202	A	T	18	33646238	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.6161171406819E-4	0.098
18	31226203	A	C	18	33646239	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.76369743616143E-4	0.108
18	31226203	A	G	18	33646239	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998818160471109	0.962
18	31226203	A	T	18	33646239	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.58590568056867E-4	0.042
18	31226204	T	A	18	33646240	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.500380872104507	0.632
18	31226204	T	C	18	33646240	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00572725917563825	0.222
18	31226204	T	G	18	33646240	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999396075289007	0.896
18	31226205	A	C	18	33646241	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.22037018647522E-5	0.014
18	31226205	A	G	18	33646241	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.3174972845296E-4	0.052
18	31226205	A	T	18	33646241	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.07737845236088E-5	0.058
18	31226206	C	A	18	33646242	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.976435876755917	0.704
18	31226206	C	G	18	33646242	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.991448626694994	0.686
18	31226206	C	T	18	33646242	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00593014903011381	0.166
18	31226207	A	C	18	33646243	y	y	splicing	ASXL3(NM_030632:exon4:c.247-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.250-2A>C;ENST00000269197:exon4:c.247-2A>C;ENST00000593195:exon5:c.456-2A>C;ENST00000590189:exon4:c.238-2A>C;ENST00000592541:exon5:c.364-2A>C;ENST00000586596:exon5:c.216-2A>C;ENST00000586327:exon5:c.214-2A>C;ENST00000585426:exon6:c.412-2A>C;ENST00000588741:exon6:c.378-2A>C;ENST00000590225:exon5:c.364-2A>C;ENST00000590973:exon5:c.367-2A>C)	.	.	0.999933834912627	0.874
18	31226207	A	G	18	33646243	y	y	splicing	ASXL3(NM_030632:exon4:c.247-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.250-2A>G;ENST00000269197:exon4:c.247-2A>G;ENST00000593195:exon5:c.456-2A>G;ENST00000590189:exon4:c.238-2A>G;ENST00000592541:exon5:c.364-2A>G;ENST00000586596:exon5:c.216-2A>G;ENST00000586327:exon5:c.214-2A>G;ENST00000585426:exon6:c.412-2A>G;ENST00000588741:exon6:c.378-2A>G;ENST00000590225:exon5:c.364-2A>G;ENST00000590973:exon5:c.367-2A>G)	.	.	0.999933834912627	0.874
18	31226207	A	T	18	33646243	y	y	splicing	ASXL3(NM_030632:exon4:c.247-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.250-2A>T;ENST00000269197:exon4:c.247-2A>T;ENST00000593195:exon5:c.456-2A>T;ENST00000590189:exon4:c.238-2A>T;ENST00000592541:exon5:c.364-2A>T;ENST00000586596:exon5:c.216-2A>T;ENST00000586327:exon5:c.214-2A>T;ENST00000585426:exon6:c.412-2A>T;ENST00000588741:exon6:c.378-2A>T;ENST00000590225:exon5:c.364-2A>T;ENST00000590973:exon5:c.367-2A>T)	.	.	0.999914511980801	0.872
18	31226208	G	A	18	33646244	y	y	splicing	ASXL3(NM_030632:exon4:c.247-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.250-1G>A;ENST00000269197:exon4:c.247-1G>A;ENST00000593195:exon5:c.456-1G>A;ENST00000590189:exon4:c.238-1G>A;ENST00000592541:exon5:c.364-1G>A;ENST00000586596:exon5:c.216-1G>A;ENST00000586327:exon5:c.214-1G>A;ENST00000585426:exon6:c.412-1G>A;ENST00000588741:exon6:c.378-1G>A;ENST00000590225:exon5:c.364-1G>A;ENST00000590973:exon5:c.367-1G>A)	.	.	0.999978115769202	0.862
18	31226208	G	C	18	33646244	y	y	splicing	ASXL3(NM_030632:exon4:c.247-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.250-1G>C;ENST00000269197:exon4:c.247-1G>C;ENST00000593195:exon5:c.456-1G>C;ENST00000590189:exon4:c.238-1G>C;ENST00000592541:exon5:c.364-1G>C;ENST00000586596:exon5:c.216-1G>C;ENST00000586327:exon5:c.214-1G>C;ENST00000585426:exon6:c.412-1G>C;ENST00000588741:exon6:c.378-1G>C;ENST00000590225:exon5:c.364-1G>C;ENST00000590973:exon5:c.367-1G>C)	.	.	0.99998306252457	0.862
18	31226208	G	T	18	33646244	y	y	splicing	ASXL3(NM_030632:exon4:c.247-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.250-1G>T;ENST00000269197:exon4:c.247-1G>T;ENST00000593195:exon5:c.456-1G>T;ENST00000590189:exon4:c.238-1G>T;ENST00000592541:exon5:c.364-1G>T;ENST00000586596:exon5:c.216-1G>T;ENST00000586327:exon5:c.214-1G>T;ENST00000585426:exon6:c.412-1G>T;ENST00000588741:exon6:c.378-1G>T;ENST00000590225:exon5:c.364-1G>T;ENST00000590973:exon5:c.367-1G>T)	.	.	0.999978115769202	0.862
18	31226209	A	C	18	33646245	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.A247C:p.K83Q;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.A238C:p.K80Q;ENSG00000141431:ENST00000586327:exon5:c.A214C:p.K72Q;ENSG00000141431:ENST00000269197:exon4:c.A247C:p.K83Q;ENSG00000141431:ENST00000592288:exon5:c.A250C:p.K84Q;	0.385103155931333	0.472
18	31226209	A	G	18	33646245	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.A247G:p.K83E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.A238G:p.K80E;ENSG00000141431:ENST00000586327:exon5:c.A214G:p.K72E;ENSG00000141431:ENST00000269197:exon4:c.A247G:p.K83E;ENSG00000141431:ENST00000592288:exon5:c.A250G:p.K84E;	0.527542178697419	0.638
18	31226209	A	T	18	33646245	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon4:c.A247T:p.K83X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000590189:exon4:c.A238T:p.K80X;ENSG00000141431:ENST00000586327:exon5:c.A214T:p.K72X;ENSG00000141431:ENST00000269197:exon4:c.A247T:p.K83X;ENSG00000141431:ENST00000592288:exon5:c.A250T:p.K84X;	0.438531375427021	0.462
18	31226210	A	C	18	33646246	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.A248C:p.K83T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.A239C:p.K80T;ENSG00000141431:ENST00000586327:exon5:c.A215C:p.K72T;ENSG00000141431:ENST00000269197:exon4:c.A248C:p.K83T;ENSG00000141431:ENST00000592288:exon5:c.A251C:p.K84T;	0.674792513508674	0.752
18	31226210	A	G	18	33646246	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.A248G:p.K83R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.A239G:p.K80R;ENSG00000141431:ENST00000586327:exon5:c.A215G:p.K72R;ENSG00000141431:ENST00000269197:exon4:c.A248G:p.K83R;ENSG00000141431:ENST00000592288:exon5:c.A251G:p.K84R;	0.707371459431539	0.69
18	31226210	A	T	18	33646246	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.A248T:p.K83I;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.A239T:p.K80I;ENSG00000141431:ENST00000586327:exon5:c.A215T:p.K72I;ENSG00000141431:ENST00000269197:exon4:c.A248T:p.K83I;ENSG00000141431:ENST00000592288:exon5:c.A251T:p.K84I;	0.705782127558937	0.756
18	31226315	G	A	18	33646351	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.G353A:p.G118E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.G344A:p.G115E;ENSG00000141431:ENST00000586327:exon5:c.G320A:p.G107E;ENSG00000141431:ENST00000269197:exon4:c.G353A:p.G118E;ENSG00000141431:ENST00000592288:exon5:c.G356A:p.G119E;	8.52815340914446E-5	0.0
18	31226315	G	C	18	33646351	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.G353C:p.G118A;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.G344C:p.G115A;ENSG00000141431:ENST00000586327:exon5:c.G320C:p.G107A;ENSG00000141431:ENST00000269197:exon4:c.G353C:p.G118A;ENSG00000141431:ENST00000592288:exon5:c.G356C:p.G119A;	1.85292955859382E-4	0.016
18	31226315	G	T	18	33646351	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.G353T:p.G118V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.G344T:p.G115V;ENSG00000141431:ENST00000586327:exon5:c.G320T:p.G107V;ENSG00000141431:ENST00000269197:exon4:c.G353T:p.G118V;ENSG00000141431:ENST00000592288:exon5:c.G356T:p.G119V;	0.00301201704664162	0.138
18	31226316	A	C	18	33646352	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon4:c.A354C:p.G118G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.A345C:p.G115G;ENSG00000141431:ENST00000586327:exon5:c.A321C:p.G107G;ENSG00000141431:ENST00000269197:exon4:c.A354C:p.G118G;ENSG00000141431:ENST00000592288:exon5:c.A357C:p.G119G;	0.0501980111994236	0.37
18	31226316	A	G	18	33646352	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon4:c.A354G:p.G118G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.A345G:p.G115G;ENSG00000141431:ENST00000586327:exon5:c.A321G:p.G107G;ENSG00000141431:ENST00000269197:exon4:c.A354G:p.G118G;ENSG00000141431:ENST00000592288:exon5:c.A357G:p.G119G;	0.08557736141661	0.178
18	31226316	A	T	18	33646352	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon4:c.A354T:p.G118G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.A345T:p.G115G;ENSG00000141431:ENST00000586327:exon5:c.A321T:p.G107G;ENSG00000141431:ENST00000269197:exon4:c.A354T:p.G118G;ENSG00000141431:ENST00000592288:exon5:c.A357T:p.G119G;	0.0787595118800752	0.336
18	31226317	G	A	18	33646353	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.G355A:p.V119I;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.G346A:p.V116I;ENSG00000141431:ENST00000586327:exon5:c.G322A:p.V108I;ENSG00000141431:ENST00000269197:exon4:c.G355A:p.V119I;ENSG00000141431:ENST00000592288:exon5:c.G358A:p.V120I;	0.996565335193544	0.88
18	31226317	G	C	18	33646353	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.G355C:p.V119L;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.G346C:p.V116L;ENSG00000141431:ENST00000586327:exon5:c.G322C:p.V108L;ENSG00000141431:ENST00000269197:exon4:c.G355C:p.V119L;ENSG00000141431:ENST00000592288:exon5:c.G358C:p.V120L;	0.99832170679677	0.9
18	31226317	G	T	18	33646353	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon4:c.G355T:p.V119F;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon4:c.G346T:p.V116F;ENSG00000141431:ENST00000586327:exon5:c.G322T:p.V108F;ENSG00000141431:ENST00000269197:exon4:c.G355T:p.V119F;ENSG00000141431:ENST00000592288:exon5:c.G358T:p.V120F;	0.997641676502221	0.854
18	31226318	G	A	18	33646354	y	y	splicing	ASXL3(NM_030632:exon4:c.355+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.358+1G>A;ENST00000269197:exon4:c.355+1G>A;ENST00000593195:exon5:c.564+1G>A;ENST00000590189:exon4:c.346+1G>A;ENST00000592541:exon5:c.472+1G>A;ENST00000586596:exon5:c.324+1G>A;ENST00000586327:exon5:c.322+1G>A;ENST00000585426:exon6:c.520+1G>A;ENST00000590973:exon5:c.475+1G>A)	.	.	0.999967335026411	0.944
18	31226318	G	C	18	33646354	y	y	splicing	ASXL3(NM_030632:exon4:c.355+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.358+1G>C;ENST00000269197:exon4:c.355+1G>C;ENST00000593195:exon5:c.564+1G>C;ENST00000590189:exon4:c.346+1G>C;ENST00000592541:exon5:c.472+1G>C;ENST00000586596:exon5:c.324+1G>C;ENST00000586327:exon5:c.322+1G>C;ENST00000585426:exon6:c.520+1G>C;ENST00000590973:exon5:c.475+1G>C)	.	.	0.999967335026411	0.942
18	31226318	G	T	18	33646354	y	y	splicing	ASXL3(NM_030632:exon4:c.355+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.358+1G>T;ENST00000269197:exon4:c.355+1G>T;ENST00000593195:exon5:c.564+1G>T;ENST00000590189:exon4:c.346+1G>T;ENST00000592541:exon5:c.472+1G>T;ENST00000586596:exon5:c.324+1G>T;ENST00000586327:exon5:c.322+1G>T;ENST00000585426:exon6:c.520+1G>T;ENST00000590973:exon5:c.475+1G>T)	.	.	0.999967335026411	0.944
18	31226319	T	A	18	33646355	y	y	splicing	ASXL3(NM_030632:exon4:c.355+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.358+2T>A;ENST00000269197:exon4:c.355+2T>A;ENST00000593195:exon5:c.564+2T>A;ENST00000590189:exon4:c.346+2T>A;ENST00000592541:exon5:c.472+2T>A;ENST00000586596:exon5:c.324+2T>A;ENST00000586327:exon5:c.322+2T>A;ENST00000585426:exon6:c.520+2T>A;ENST00000590973:exon5:c.475+2T>A)	.	.	0.999986903042585	0.926
18	31226319	T	C	18	33646355	y	y	splicing	ASXL3(NM_030632:exon4:c.355+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.358+2T>C;ENST00000269197:exon4:c.355+2T>C;ENST00000593195:exon5:c.564+2T>C;ENST00000590189:exon4:c.346+2T>C;ENST00000592541:exon5:c.472+2T>C;ENST00000586596:exon5:c.324+2T>C;ENST00000586327:exon5:c.322+2T>C;ENST00000585426:exon6:c.520+2T>C;ENST00000590973:exon5:c.475+2T>C)	.	.	0.987743803343	0.664
18	31226319	T	G	18	33646355	y	y	splicing	ASXL3(NM_030632:exon4:c.355+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon5:c.358+2T>G;ENST00000269197:exon4:c.355+2T>G;ENST00000593195:exon5:c.564+2T>G;ENST00000590189:exon4:c.346+2T>G;ENST00000592541:exon5:c.472+2T>G;ENST00000586596:exon5:c.324+2T>G;ENST00000586327:exon5:c.322+2T>G;ENST00000585426:exon6:c.520+2T>G;ENST00000590973:exon5:c.475+2T>G)	.	.	0.999966203349492	0.926
18	31226320	A	C	18	33646356	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.272720783894259	0.392
18	31226320	A	G	18	33646356	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.42657591728836E-4	0.01
18	31226320	A	T	18	33646356	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.218399172385877	0.392
18	31226321	A	C	18	33646357	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0226046795813804	0.294
18	31226321	A	G	18	33646357	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.136814041749442	0.302
18	31226321	A	T	18	33646357	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0598102382832126	0.224
18	31226322	G	A	18	33646358	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.914713551732426	0.522
18	31226322	G	C	18	33646358	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.629810712022529	0.404
18	31226322	G	T	18	33646358	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.711240571952971	0.432
18	31226323	T	A	18	33646359	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00158853119535392	0.038
18	31226323	T	C	18	33646359	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00303932574985255	0.024
18	31226323	T	G	18	33646359	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.31013782096188E-4	0.018
18	31226324	G	A	18	33646360	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.38863475275964E-5	0.0
18	31226324	G	C	18	33646360	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.38863475275964E-5	0.0
18	31226324	G	T	18	33646360	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.38863475275964E-5	0.0
18	31226325	T	A	18	33646361	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.83708300348738E-5	0.06
18	31226325	T	C	18	33646361	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.86075475573093E-5	0.0
18	31226325	T	G	18	33646361	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.83708300348738E-5	0.0
18	31229529	A	C	18	33649565	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.8607438459496E-5	0.002
18	31229529	A	G	18	33649565	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.8607438459496E-5	0.002
18	31229529	A	T	18	33649565	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.8607438459496E-5	0.0
18	31229530	T	A	18	33649566	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.0
18	31229530	T	C	18	33649566	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.0
18	31229530	T	G	18	33649566	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.0
18	31229531	T	A	18	33649567	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.0
18	31229531	T	C	18	33649567	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.0
18	31229531	T	G	18	33649567	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.0
18	31229532	T	A	18	33649568	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.0
18	31229532	T	C	18	33649568	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.002
18	31229532	T	G	18	33649568	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41782489535009E-5	0.002
18	31229533	T	A	18	33649569	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.2748405421868E-4	0.01
18	31229533	T	C	18	33649569	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.25168960799101E-4	0.016
18	31229533	T	G	18	33649569	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.25168960799101E-4	0.016
18	31229534	T	A	18	33649570	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.2748405421868E-4	0.01
18	31229534	T	C	18	33649570	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.25168960799101E-4	0.012
18	31229534	T	G	18	33649570	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.25168960799101E-4	0.016
18	31229535	C	A	18	33649571	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.07620641825897E-5	0.0
18	31229535	C	G	18	33649571	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.07620641825897E-5	0.0
18	31229535	C	T	18	33649571	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.07620641825897E-5	0.0
18	31229536	T	A	18	33649572	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.82779041686858E-5	0.0
18	31229536	T	C	18	33649572	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.20639154229398E-5	0.0
18	31229536	T	G	18	33649572	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.20639154229398E-5	0.0
18	31229537	C	A	18	33649573	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.52173701430229E-5	0.006
18	31229537	C	G	18	33649573	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.48367148474546E-5	0.004
18	31229537	C	T	18	33649573	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.52173701430229E-5	0.006
18	31229538	C	A	18	33649574	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.27163650926202E-4	0.044
18	31229538	C	G	18	33649574	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.27163650926202E-4	0.016
18	31229538	C	T	18	33649574	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.69884688945688E-4	0.01
18	31229539	A	C	18	33649575	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000585426:exon7:c.521-2A>C)	.	.	1.21161612834329E-5	0.0
18	31229539	A	G	18	33649575	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000585426:exon7:c.521-2A>G)	.	.	1.21161612834329E-5	0.0
18	31229539	A	T	18	33649575	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000585426:exon7:c.521-2A>T)	.	.	5.24642887656211E-5	0.006
18	31229540	G	A	18	33649576	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000585426:exon7:c.521-1G>A)	.	.	7.52202253982172E-4	0.01
18	31229540	G	C	18	33649576	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000585426:exon7:c.521-1G>C)	.	.	0.00100562012744079	0.126
18	31229540	G	T	18	33649576	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000585426:exon7:c.521-1G>T)	.	.	7.52202253982172E-4	0.02
18	31229541	T	A	18	33649577	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	2.2748405421868E-4	0.008
18	31229541	T	C	18	33649577	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	2.2748405421868E-4	0.014
18	31229541	T	G	18	33649577	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	2.2748405421868E-4	0.012
18	31229542	C	A	18	33649578	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	1.99153316237132E-5	0.0
18	31229542	C	G	18	33649578	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	1.99153316237132E-5	0.0
18	31229542	C	T	18	33649578	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	3.07620641825897E-5	0.002
18	31241568	C	A	18	33661604	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.71148352955926E-5	0.168
18	31241568	C	G	18	33661604	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.28275647484483E-5	0.07
18	31241568	C	T	18	33661604	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.15865865104249E-6	0.03
18	31241569	T	A	18	33661605	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0953209383171428	0.54
18	31241569	T	C	18	33661605	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0465243666804145	0.278
18	31241569	T	G	18	33661605	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0242121872595958	0.406
18	31241570	C	A	18	33661606	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.414685249078617	0.316
18	31241570	C	G	18	33661606	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.250000062297144	0.268
18	31241570	C	T	18	33661606	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0922293067669631	0.358
18	31241571	T	A	18	33661607	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998036774657053	0.904
18	31241571	T	C	18	33661607	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.17344740506025E-5	0.008
18	31241571	T	G	18	33661607	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00138603924367414	0.056
18	31241572	G	A	18	33661608	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.39321167456118E-5	0.0
18	31241572	G	C	18	33661608	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.26595847243277E-6	0.002
18	31241572	G	T	18	33661608	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.36462946634466E-5	0.0
18	31241573	T	A	18	33661609	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0135925729407363	0.162
18	31241573	T	C	18	33661609	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.91317454206629E-4	0.042
18	31241573	T	G	18	33661609	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00273258864679577	0.11
18	31241574	T	A	18	33661610	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0447625992626755	0.34
18	31241574	T	C	18	33661610	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00407015959543475	0.062
18	31241574	T	G	18	33661610	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.101975193213038	0.348
18	31241575	T	A	18	33661611	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.909976958668843	0.736
18	31241575	T	C	18	33661611	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.106295105889091	0.3
18	31241575	T	G	18	33661611	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.771672811973586	0.662
18	31241576	C	A	18	33661612	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00284533491104879	0.094
18	31241576	C	G	18	33661612	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00419074509612216	0.108
18	31241576	C	T	18	33661612	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0029777216519607	0.048
18	31241577	T	A	18	33661613	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.119299397127217	0.294
18	31241577	T	C	18	33661613	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.07964427234399E-4	0.002
18	31241577	T	G	18	33661613	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999587749705238	0.894
18	31241578	A	C	18	33661614	y	y	splicing	ASXL3(NM_030632:exon5:c.356-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.359-2A>C;ENST00000269197:exon5:c.356-2A>C;ENST00000593195:exon6:c.565-2A>C;ENST00000590189:exon5:c.347-2A>C;ENST00000592541:exon6:c.473-2A>C;ENST00000586596:exon6:c.325-2A>C;ENST00000586327:exon6:c.323-2A>C;ENST00000593235:exon4:c.266-2A>C;ENST00000590973:exon6:c.476-2A>C)	.	.	0.999988247793601	0.93
18	31241578	A	G	18	33661614	y	y	splicing	ASXL3(NM_030632:exon5:c.356-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.359-2A>G;ENST00000269197:exon5:c.356-2A>G;ENST00000593195:exon6:c.565-2A>G;ENST00000590189:exon5:c.347-2A>G;ENST00000592541:exon6:c.473-2A>G;ENST00000586596:exon6:c.325-2A>G;ENST00000586327:exon6:c.323-2A>G;ENST00000593235:exon4:c.266-2A>G;ENST00000590973:exon6:c.476-2A>G)	.	.	0.999988247793601	0.93
18	31241578	A	T	18	33661614	y	y	splicing	ASXL3(NM_030632:exon5:c.356-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.359-2A>T;ENST00000269197:exon5:c.356-2A>T;ENST00000593195:exon6:c.565-2A>T;ENST00000590189:exon5:c.347-2A>T;ENST00000592541:exon6:c.473-2A>T;ENST00000586596:exon6:c.325-2A>T;ENST00000586327:exon6:c.323-2A>T;ENST00000593235:exon4:c.266-2A>T;ENST00000590973:exon6:c.476-2A>T)	.	.	0.999988247793601	0.93
18	31241579	G	A	18	33661615	y	y	splicing	ASXL3(NM_030632:exon5:c.356-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.359-1G>A;ENST00000269197:exon5:c.356-1G>A;ENST00000593195:exon6:c.565-1G>A;ENST00000590189:exon5:c.347-1G>A;ENST00000592541:exon6:c.473-1G>A;ENST00000586596:exon6:c.325-1G>A;ENST00000586327:exon6:c.323-1G>A;ENST00000593235:exon4:c.266-1G>A;ENST00000590973:exon6:c.476-1G>A)	.	.	0.999990361384395	0.938
18	31241579	G	C	18	33661615	y	y	splicing	ASXL3(NM_030632:exon5:c.356-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.359-1G>C;ENST00000269197:exon5:c.356-1G>C;ENST00000593195:exon6:c.565-1G>C;ENST00000590189:exon5:c.347-1G>C;ENST00000592541:exon6:c.473-1G>C;ENST00000586596:exon6:c.325-1G>C;ENST00000586327:exon6:c.323-1G>C;ENST00000593235:exon4:c.266-1G>C;ENST00000590973:exon6:c.476-1G>C)	.	.	0.999990361384395	0.938
18	31241579	G	T	18	33661615	y	y	splicing	ASXL3(NM_030632:exon5:c.356-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.359-1G>T;ENST00000269197:exon5:c.356-1G>T;ENST00000593195:exon6:c.565-1G>T;ENST00000590189:exon5:c.347-1G>T;ENST00000592541:exon6:c.473-1G>T;ENST00000586596:exon6:c.325-1G>T;ENST00000586327:exon6:c.323-1G>T;ENST00000593235:exon4:c.266-1G>T;ENST00000590973:exon6:c.476-1G>T)	.	.	0.999990361384395	0.938
18	31241580	T	A	18	33661616	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.T356A:p.V119D;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.T347A:p.V116D;ENSG00000141431:ENST00000586327:exon6:c.T323A:p.V108D;ENSG00000141431:ENST00000269197:exon5:c.T356A:p.V119D;ENSG00000141431:ENST00000592288:exon6:c.T359A:p.V120D;	0.652656369967121	0.714
18	31241580	T	C	18	33661616	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.T356C:p.V119A;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.T347C:p.V116A;ENSG00000141431:ENST00000586327:exon6:c.T323C:p.V108A;ENSG00000141431:ENST00000269197:exon5:c.T356C:p.V119A;ENSG00000141431:ENST00000592288:exon6:c.T359C:p.V120A;	0.924045802048319	0.74
18	31241580	T	G	18	33661616	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.T356G:p.V119G;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.T347G:p.V116G;ENSG00000141431:ENST00000586327:exon6:c.T323G:p.V108G;ENSG00000141431:ENST00000269197:exon5:c.T356G:p.V119G;ENSG00000141431:ENST00000592288:exon6:c.T359G:p.V120G;	0.767931738310799	0.61
18	31241581	T	A	18	33661617	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon5:c.T357A:p.V119V;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.T348A:p.V116V;ENSG00000141431:ENST00000586327:exon6:c.T324A:p.V108V;ENSG00000141431:ENST00000269197:exon5:c.T357A:p.V119V;ENSG00000141431:ENST00000592288:exon6:c.T360A:p.V120V;	0.0015980404054151	0.056
18	31241581	T	C	18	33661617	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon5:c.T357C:p.V119V;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.T348C:p.V116V;ENSG00000141431:ENST00000586327:exon6:c.T324C:p.V108V;ENSG00000141431:ENST00000269197:exon5:c.T357C:p.V119V;ENSG00000141431:ENST00000592288:exon6:c.T360C:p.V120V;	0.00115435099308077	0.034
18	31241581	T	G	18	33661617	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon5:c.T357G:p.V119V;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.T348G:p.V116V;ENSG00000141431:ENST00000586327:exon6:c.T324G:p.V108V;ENSG00000141431:ENST00000269197:exon5:c.T357G:p.V119V;ENSG00000141431:ENST00000592288:exon6:c.T360G:p.V120V;	3.42205203924261E-4	0.016
18	31241699	C	A	18	33661735	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.C475A:p.Q159K;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.C466A:p.Q156K;ENSG00000141431:ENST00000586327:exon6:c.C442A:p.Q148K;ENSG00000141431:ENST00000269197:exon5:c.C475A:p.Q159K;ENSG00000141431:ENST00000592288:exon6:c.C478A:p.Q160K;	0.943749686478024	0.814
18	31241699	C	G	18	33661735	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.C475G:p.Q159E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.C466G:p.Q156E;ENSG00000141431:ENST00000586327:exon6:c.C442G:p.Q148E;ENSG00000141431:ENST00000269197:exon5:c.C475G:p.Q159E;ENSG00000141431:ENST00000592288:exon6:c.C478G:p.Q160E;	0.932004292561122	0.588
18	31241699	C	T	18	33661735	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon5:c.C475T:p.Q159X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000590189:exon5:c.C466T:p.Q156X;ENSG00000141431:ENST00000586327:exon6:c.C442T:p.Q148X;ENSG00000141431:ENST00000269197:exon5:c.C475T:p.Q159X;ENSG00000141431:ENST00000592288:exon6:c.C478T:p.Q160X;	0.99907153073397	0.832
18	31241700	A	C	18	33661736	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.A476C:p.Q159P;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.A467C:p.Q156P;ENSG00000141431:ENST00000586327:exon6:c.A443C:p.Q148P;ENSG00000141431:ENST00000269197:exon5:c.A476C:p.Q159P;ENSG00000141431:ENST00000592288:exon6:c.A479C:p.Q160P;	0.989493928813494	0.788
18	31241700	A	G	18	33661736	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.A476G:p.Q159R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.A467G:p.Q156R;ENSG00000141431:ENST00000586327:exon6:c.A443G:p.Q148R;ENSG00000141431:ENST00000269197:exon5:c.A476G:p.Q159R;ENSG00000141431:ENST00000592288:exon6:c.A479G:p.Q160R;	0.992803337654779	0.904
18	31241700	A	T	18	33661736	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.A476T:p.Q159L;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.A467T:p.Q156L;ENSG00000141431:ENST00000586327:exon6:c.A443T:p.Q148L;ENSG00000141431:ENST00000269197:exon5:c.A476T:p.Q159L;ENSG00000141431:ENST00000592288:exon6:c.A479T:p.Q160L;	0.986890491775577	0.592
18	31241701	G	A	18	33661737	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon5:c.G477A:p.Q159Q;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.G468A:p.Q156Q;ENSG00000141431:ENST00000586327:exon6:c.G444A:p.Q148Q;ENSG00000141431:ENST00000269197:exon5:c.G477A:p.Q159Q;ENSG00000141431:ENST00000592288:exon6:c.G480A:p.Q160Q;	0.999755762163191	0.92
18	31241701	G	C	18	33661737	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.G477C:p.Q159H;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.G468C:p.Q156H;ENSG00000141431:ENST00000586327:exon6:c.G444C:p.Q148H;ENSG00000141431:ENST00000269197:exon5:c.G477C:p.Q159H;ENSG00000141431:ENST00000592288:exon6:c.G480C:p.Q160H;	0.999979488823615	0.954
18	31241701	G	T	18	33661737	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon5:c.G477T:p.Q159H;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon5:c.G468T:p.Q156H;ENSG00000141431:ENST00000586327:exon6:c.G444T:p.Q148H;ENSG00000141431:ENST00000269197:exon5:c.G477T:p.Q159H;ENSG00000141431:ENST00000592288:exon6:c.G480T:p.Q160H;	0.99998174454714	0.98
18	31241702	G	A	18	33661738	y	y	splicing	ASXL3(NM_030632:exon5:c.477+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.480+1G>A;ENST00000269197:exon5:c.477+1G>A;ENST00000590189:exon5:c.468+1G>A;ENST00000592541:exon6:c.594+1G>A;ENST00000586596:exon6:c.446+1G>A;ENST00000593235:exon4:c.387+1G>A)	.	.	0.99998936052203	0.93
18	31241702	G	C	18	33661738	y	y	splicing	ASXL3(NM_030632:exon5:c.477+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.480+1G>C;ENST00000269197:exon5:c.477+1G>C;ENST00000590189:exon5:c.468+1G>C;ENST00000592541:exon6:c.594+1G>C;ENST00000586596:exon6:c.446+1G>C;ENST00000593235:exon4:c.387+1G>C)	.	.	0.99998936052203	0.93
18	31241702	G	T	18	33661738	y	y	splicing	ASXL3(NM_030632:exon5:c.477+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.480+1G>T;ENST00000269197:exon5:c.477+1G>T;ENST00000590189:exon5:c.468+1G>T;ENST00000592541:exon6:c.594+1G>T;ENST00000586596:exon6:c.446+1G>T;ENST00000593235:exon4:c.387+1G>T)	.	.	0.99998936052203	0.93
18	31241703	T	A	18	33661739	y	y	splicing	ASXL3(NM_030632:exon5:c.477+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.480+2T>A;ENST00000269197:exon5:c.477+2T>A;ENST00000590189:exon5:c.468+2T>A;ENST00000592541:exon6:c.594+2T>A;ENST00000586596:exon6:c.446+2T>A;ENST00000593235:exon4:c.387+2T>A)	.	.	0.999988247793601	0.932
18	31241703	T	C	18	33661739	y	y	splicing	ASXL3(NM_030632:exon5:c.477+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.480+2T>C;ENST00000269197:exon5:c.477+2T>C;ENST00000590189:exon5:c.468+2T>C;ENST00000592541:exon6:c.594+2T>C;ENST00000586596:exon6:c.446+2T>C;ENST00000593235:exon4:c.387+2T>C)	.	.	0.986973409415639	0.658
18	31241703	T	G	18	33661739	y	y	splicing	ASXL3(NM_030632:exon5:c.477+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon6:c.480+2T>G;ENST00000269197:exon5:c.477+2T>G;ENST00000590189:exon5:c.468+2T>G;ENST00000592541:exon6:c.594+2T>G;ENST00000586596:exon6:c.446+2T>G;ENST00000593235:exon4:c.387+2T>G)	.	.	0.999988247793601	0.93
18	31241704	A	C	18	33661740	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.931117863486838	0.646
18	31241704	A	G	18	33661740	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00944384491429752	0.176
18	31241704	A	T	18	33661740	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.932757788856145	0.616
18	31241705	A	C	18	33661741	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.490656956829702	0.532
18	31241705	A	G	18	33661741	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.699817809396573	0.404
18	31241705	A	T	18	33661741	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.862813576805004	0.59
18	31241706	G	A	18	33661742	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.951179107925051	0.562
18	31241706	G	C	18	33661742	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.750341054936917	0.374
18	31241706	G	T	18	33661742	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.60463601640629	0.502
18	31241707	A	C	18	33661743	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.6979352974396E-5	0.026
18	31241707	A	G	18	33661743	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.67754296341014E-5	0.002
18	31241707	A	T	18	33661743	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.87626934852356E-5	0.04
18	31241708	T	A	18	33661744	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.5391316634665E-4	0.012
18	31241708	T	C	18	33661744	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.71253148047967E-4	0.09
18	31241708	T	G	18	33661744	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.70433713724633E-4	0.02
18	31241709	A	C	18	33661745	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.30477579161392E-5	0.0
18	31241709	A	G	18	33661745	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.05731866030037E-5	0.0
18	31241709	A	T	18	33661745	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.8060894308021E-5	0.04
18	31250625	T	A	18	33670661	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.95333705216486E-4	0.14
18	31250625	T	C	18	33670661	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.34853381669161E-5	0.004
18	31250625	T	G	18	33670661	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.001156569609737	0.14
18	31250626	A	C	18	33670662	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.53464765003197E-5	0.004
18	31250626	A	G	18	33670662	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.90348712275922E-5	0.0
18	31250626	A	T	18	33670662	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.71889320850071E-5	0.102
18	31250627	T	A	18	33670663	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999963076760362	0.948
18	31250627	T	C	18	33670663	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00409439449719261	0.148
18	31250627	T	G	18	33670663	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999962201012926	0.942
18	31250628	G	A	18	33670664	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00100726466546001	0.04
18	31250628	G	C	18	33670664	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.4692727559356E-4	0.002
18	31250628	G	T	18	33670664	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.31287276292292E-4	0.01
18	31250629	T	A	18	33670665	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.570839156984697	0.484
18	31250629	T	C	18	33670665	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.11208293553974E-4	0.042
18	31250629	T	G	18	33670665	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.276482194283613	0.512
18	31250630	T	A	18	33670666	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.063425032995672	0.318
18	31250630	T	C	18	33670666	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.45760821744655E-4	0.018
18	31250630	T	G	18	33670666	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0253626715627405	0.342
18	31250631	T	A	18	33670667	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.811031407616738	0.526
18	31250631	T	C	18	33670667	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.42267553994081E-4	0.018
18	31250631	T	G	18	33670667	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.386348873121119	0.542
18	31250632	T	A	18	33670668	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999600634824052	0.946
18	31250632	T	C	18	33670668	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.85225907148676E-4	0.024
18	31250632	T	G	18	33670668	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.721785374426287	0.396
18	31250633	G	A	18	33670669	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.94716658651354E-5	0.002
18	31250633	G	C	18	33670669	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.05604122120787E-5	0.004
18	31250633	G	T	18	33670669	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.91156170768979E-5	0.002
18	31250634	T	A	18	33670670	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.135176872238874	0.296
18	31250634	T	C	18	33670670	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.92337972557941E-4	0.012
18	31250634	T	G	18	33670670	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.994659374383693	0.716
18	31250635	A	C	18	33670671	y	y	splicing	ASXL3(NM_030632:exon6:c.478-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.481-2A>C;ENST00000269197:exon6:c.478-2A>C;ENST00000590189:exon6:c.469-2A>C;ENST00000592541:exon7:c.595-2A>C;ENST00000586596:exon7:c.447-2A>C;ENST00000593235:exon5:c.388-2A>C)	.	.	0.999978952611685	0.928
18	31250635	A	G	18	33670671	y	y	splicing	ASXL3(NM_030632:exon6:c.478-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.481-2A>G;ENST00000269197:exon6:c.478-2A>G;ENST00000590189:exon6:c.469-2A>G;ENST00000592541:exon7:c.595-2A>G;ENST00000586596:exon7:c.447-2A>G;ENST00000593235:exon5:c.388-2A>G)	.	.	0.999978952611685	0.928
18	31250635	A	T	18	33670671	y	y	splicing	ASXL3(NM_030632:exon6:c.478-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.481-2A>T;ENST00000269197:exon6:c.478-2A>T;ENST00000590189:exon6:c.469-2A>T;ENST00000592541:exon7:c.595-2A>T;ENST00000586596:exon7:c.447-2A>T;ENST00000593235:exon5:c.388-2A>T)	.	.	0.999988247793601	0.926
18	31250636	G	A	18	33670672	y	y	splicing	ASXL3(NM_030632:exon6:c.478-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.481-1G>A;ENST00000269197:exon6:c.478-1G>A;ENST00000590189:exon6:c.469-1G>A;ENST00000592541:exon7:c.595-1G>A;ENST00000586596:exon7:c.447-1G>A;ENST00000593235:exon5:c.388-1G>A)	.	.	0.999985532734767	0.936
18	31250636	G	C	18	33670672	y	y	splicing	ASXL3(NM_030632:exon6:c.478-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.481-1G>C;ENST00000269197:exon6:c.478-1G>C;ENST00000590189:exon6:c.469-1G>C;ENST00000592541:exon7:c.595-1G>C;ENST00000586596:exon7:c.447-1G>C;ENST00000593235:exon5:c.388-1G>C)	.	.	0.999985532734767	0.936
18	31250636	G	T	18	33670672	y	y	splicing	ASXL3(NM_030632:exon6:c.478-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.481-1G>T;ENST00000269197:exon6:c.478-1G>T;ENST00000590189:exon6:c.469-1G>T;ENST00000592541:exon7:c.595-1G>T;ENST00000586596:exon7:c.447-1G>T;ENST00000593235:exon5:c.388-1G>T)	.	.	0.999985532734767	0.936
18	31250637	G	A	18	33670673	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.G478A:p.A160T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon6:c.G469A:p.A157T;ENSG00000141431:ENST00000269197:exon6:c.G478A:p.A160T;ENSG00000141431:ENST00000592288:exon7:c.G481A:p.A161T;	0.999095128299466	0.868
18	31250637	G	C	18	33670673	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.G478C:p.A160P;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon6:c.G469C:p.A157P;ENSG00000141431:ENST00000269197:exon6:c.G478C:p.A160P;ENSG00000141431:ENST00000592288:exon7:c.G481C:p.A161P;	0.999599224218236	0.968
18	31250637	G	T	18	33670673	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.G478T:p.A160S;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon6:c.G469T:p.A157S;ENSG00000141431:ENST00000269197:exon6:c.G478T:p.A160S;ENSG00000141431:ENST00000592288:exon7:c.G481T:p.A161S;	0.999863140305883	0.952
18	31250638	C	A	18	33670674	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.C479A:p.A160D;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon6:c.C470A:p.A157D;ENSG00000141431:ENST00000269197:exon6:c.C479A:p.A160D;ENSG00000141431:ENST00000592288:exon7:c.C482A:p.A161D;	0.986248017409774	0.836
18	31250638	C	G	18	33670674	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.C479G:p.A160G;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon6:c.C470G:p.A157G;ENSG00000141431:ENST00000269197:exon6:c.C479G:p.A160G;ENSG00000141431:ENST00000592288:exon7:c.C482G:p.A161G;	0.969811486588766	0.692
18	31250638	C	T	18	33670674	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.C479T:p.A160V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000590189:exon6:c.C470T:p.A157V;ENSG00000141431:ENST00000269197:exon6:c.C479T:p.A160V;ENSG00000141431:ENST00000592288:exon7:c.C482T:p.A161V;	0.970614691454475	0.796
18	31250752	C	A	18	33670788	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon6:c.C593A:p.S198X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon6:c.C593A:p.S198X;ENSG00000141431:ENST00000592288:exon7:c.C596A:p.S199X;	0.961738356536675	0.826
18	31250752	C	G	18	33670788	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon6:c.C593G:p.S198X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon6:c.C593G:p.S198X;ENSG00000141431:ENST00000592288:exon7:c.C596G:p.S199X;	0.907079789340014	0.69
18	31250752	C	T	18	33670788	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.C593T:p.S198L;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon6:c.C593T:p.S198L;ENSG00000141431:ENST00000592288:exon7:c.C596T:p.S199L;	0.999170166043506	0.928
18	31250753	A	C	18	33670789	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon6:c.A594C:p.S198S;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon6:c.A594C:p.S198S;ENSG00000141431:ENST00000592288:exon7:c.A597C:p.S199S;	0.974157484466518	0.802
18	31250753	A	G	18	33670789	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon6:c.A594G:p.S198S;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon6:c.A594G:p.S198S;ENSG00000141431:ENST00000592288:exon7:c.A597G:p.S199S;	0.997814587765251	0.858
18	31250753	A	T	18	33670789	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon6:c.A594T:p.S198S;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon6:c.A594T:p.S198S;ENSG00000141431:ENST00000592288:exon7:c.A597T:p.S199S;	0.998738810156294	0.966
18	31250754	G	A	18	33670790	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.G595A:p.G199R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon6:c.G595A:p.G199R;ENSG00000141431:ENST00000592288:exon7:c.G598A:p.G200R;	0.999994808119208	1.0
18	31250754	G	C	18	33670790	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon6:c.G595C:p.G199R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon6:c.G595C:p.G199R;ENSG00000141431:ENST00000592288:exon7:c.G598C:p.G200R;	0.9999981677847	1.0
18	31250754	G	T	18	33670790	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon6:c.G595T:p.G199X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon6:c.G595T:p.G199X;ENSG00000141431:ENST00000592288:exon7:c.G598T:p.G200X;	0.999990199114687	0.998
18	31250755	G	A	18	33670791	y	y	splicing	ASXL3(NM_030632:exon6:c.595+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.598+1G>A;ENST00000269197:exon6:c.595+1G>A)	.	.	0.999985532734767	0.934
18	31250755	G	C	18	33670791	y	y	splicing	ASXL3(NM_030632:exon6:c.595+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.598+1G>C;ENST00000269197:exon6:c.595+1G>C)	.	.	0.999985532734767	0.934
18	31250755	G	T	18	33670791	y	y	splicing	ASXL3(NM_030632:exon6:c.595+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.598+1G>T;ENST00000269197:exon6:c.595+1G>T)	.	.	0.999985532734767	0.934
18	31250756	T	A	18	33670792	y	y	splicing	ASXL3(NM_030632:exon6:c.595+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.598+2T>A;ENST00000269197:exon6:c.595+2T>A)	.	.	0.999988247793601	0.926
18	31250756	T	C	18	33670792	y	y	splicing	ASXL3(NM_030632:exon6:c.595+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.598+2T>C;ENST00000269197:exon6:c.595+2T>C)	.	.	0.98918007292081	0.632
18	31250756	T	G	18	33670792	y	y	splicing	ASXL3(NM_030632:exon6:c.595+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon7:c.598+2T>G;ENST00000269197:exon6:c.595+2T>G)	.	.	0.999988247793601	0.924
18	31250757	A	C	18	33670793	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999937933414765	0.988
18	31250757	A	G	18	33670793	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.991315106514587	0.728
18	31250757	A	T	18	33670793	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999627836195402	0.932
18	31250758	A	C	18	33670794	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.260954769424582	0.384
18	31250758	A	G	18	33670794	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.315712630872827	0.466
18	31250758	A	T	18	33670794	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.449132447273276	0.386
18	31250759	A	C	18	33670795	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00336192313683274	0.088
18	31250759	A	G	18	33670795	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.0502241051133E-4	0.03
18	31250759	A	T	18	33670795	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00343258429387752	0.08
18	31250760	G	A	18	33670796	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.28348948975424E-4	0.016
18	31250760	G	C	18	33670796	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.62613236115366E-4	0.066
18	31250760	G	T	18	33670796	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.13717480497688E-4	0.006
18	31250761	A	C	18	33670797	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.41865564032148E-4	0.008
18	31250761	A	G	18	33670797	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.0852845615969E-4	0.002
18	31250761	A	T	18	33670797	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.95448370681813E-4	0.008
18	31250762	G	A	18	33670798	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00201485517629187	0.05
18	31250762	G	C	18	33670798	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00113713239251269	0.028
18	31250762	G	T	18	33670798	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00119981930185205	0.024
18	31251699	T	A	18	33671735	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0296925002416715	0.194
18	31251699	T	C	18	33671735	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00508753577251688	0.03
18	31251699	T	G	18	33671735	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.027025900697679	0.204
18	31251700	T	A	18	33671736	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.269156504093715	0.504
18	31251700	T	C	18	33671736	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0157959930932908	0.106
18	31251700	T	G	18	33671736	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0581761323193639	0.344
18	31251701	C	A	18	33671737	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00619077776721532	0.144
18	31251701	C	G	18	33671737	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00968536850658509	0.12
18	31251701	C	T	18	33671737	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.97663371289274E-4	0.002
18	31251702	C	A	18	33671738	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.190038122710829	0.23
18	31251702	C	G	18	33671738	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.201759827957906	0.23
18	31251702	C	T	18	33671738	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.153429194953601	0.302
18	31251703	T	A	18	33671739	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0351568477522601	0.25
18	31251703	T	C	18	33671739	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00200730094972735	0.078
18	31251703	T	G	18	33671739	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0245359712583695	0.214
18	31251704	T	A	18	33671740	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0072859861791354	0.076
18	31251704	T	C	18	33671740	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.50334128810403E-4	0.064
18	31251704	T	G	18	33671740	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00774211280068787	0.062
18	31251705	T	A	18	33671741	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0605530258358451	0.348
18	31251705	T	C	18	33671741	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00793991912735039	0.112
18	31251705	T	G	18	33671741	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.154984128015128	0.358
18	31251706	T	A	18	33671742	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.227447159498841	0.56
18	31251706	T	C	18	33671742	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0103954346781841	0.288
18	31251706	T	G	18	33671742	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.272494095322748	0.538
18	31251707	T	A	18	33671743	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.72862561136271E-5	0.0
18	31251707	T	C	18	33671743	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.46468742471519E-4	0.008
18	31251707	T	G	18	33671743	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.54765717439373E-4	0.002
18	31251708	T	A	18	33671744	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0658768687280641	0.42
18	31251708	T	C	18	33671744	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.42943837669306E-4	0.036
18	31251708	T	G	18	33671744	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.973490308596358	0.628
18	31251709	A	C	18	33671745	y	y	splicing	ASXL3(NM_030632:exon7:c.596-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.599-2A>C;ENST00000269197:exon7:c.596-2A>C)	.	.	0.999988247793601	0.928
18	31251709	A	G	18	33671745	y	y	splicing	ASXL3(NM_030632:exon7:c.596-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.599-2A>G;ENST00000269197:exon7:c.596-2A>G)	.	.	0.999988247793601	0.928
18	31251709	A	T	18	33671745	y	y	splicing	ASXL3(NM_030632:exon7:c.596-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.599-2A>T;ENST00000269197:exon7:c.596-2A>T)	.	.	0.999988247793601	0.928
18	31251710	G	A	18	33671746	y	y	splicing	ASXL3(NM_030632:exon7:c.596-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.599-1G>A;ENST00000269197:exon7:c.596-1G>A)	.	.	0.999989072007339	0.934
18	31251710	G	C	18	33671746	y	y	splicing	ASXL3(NM_030632:exon7:c.596-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.599-1G>C;ENST00000269197:exon7:c.596-1G>C)	.	.	0.999989072007339	0.934
18	31251710	G	T	18	33671746	y	y	splicing	ASXL3(NM_030632:exon7:c.596-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.599-1G>T;ENST00000269197:exon7:c.596-1G>T)	.	.	0.999989072007339	0.934
18	31251711	G	A	18	33671747	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.G596A:p.G199E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.G596A:p.G199E;ENSG00000141431:ENST00000592288:exon8:c.G599A:p.G200E;	0.99970320439725	0.89
18	31251711	G	C	18	33671747	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.G596C:p.G199A;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.G596C:p.G199A;ENSG00000141431:ENST00000592288:exon8:c.G599C:p.G200A;	0.999746451760083	0.984
18	31251711	G	T	18	33671747	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.G596T:p.G199V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.G596T:p.G199V;ENSG00000141431:ENST00000592288:exon8:c.G599T:p.G200V;	0.999841005226137	0.982
18	31251712	A	C	18	33671748	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon7:c.A597C:p.G199G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.A597C:p.G199G;ENSG00000141431:ENST00000592288:exon8:c.A600C:p.G200G;	0.00113745115781962	0.032
18	31251712	A	G	18	33671748	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon7:c.A597G:p.G199G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.A597G:p.G199G;ENSG00000141431:ENST00000592288:exon8:c.A600G:p.G200G;	0.00123535530415889	0.014
18	31251712	A	T	18	33671748	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon7:c.A597T:p.G199G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.A597T:p.G199G;ENSG00000141431:ENST00000592288:exon8:c.A600T:p.G200G;	0.00135480551261866	0.0
18	31251828	T	A	18	33671864	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon7:c.T713A:p.L238X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon7:c.T713A:p.L238X;ENSG00000141431:ENST00000592288:exon8:c.T716A:p.L239X;	0.74702229933833	0.716
18	31251828	T	C	18	33671864	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.T713C:p.L238S;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.T713C:p.L238S;ENSG00000141431:ENST00000592288:exon8:c.T716C:p.L239S;	0.615344468946284	0.538
18	31251828	T	G	18	33671864	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon7:c.T713G:p.L238X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon7:c.T713G:p.L238X;ENSG00000141431:ENST00000592288:exon8:c.T716G:p.L239X;	0.823789168205076	0.73
18	31251829	A	C	18	33671865	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.A714C:p.L238F;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.A714C:p.L238F;ENSG00000141431:ENST00000592288:exon8:c.A717C:p.L239F;	0.64774860173382	0.678
18	31251829	A	G	18	33671865	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon7:c.A714G:p.L238L;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.A714G:p.L238L;ENSG00000141431:ENST00000592288:exon8:c.A717G:p.L239L;	0.122742585383311	0.38
18	31251829	A	T	18	33671865	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.A714T:p.L238F;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.A714T:p.L238F;ENSG00000141431:ENST00000592288:exon8:c.A717T:p.L239F;	0.48291802593635	0.676
18	31251830	G	A	18	33671866	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.G715A:p.G239R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.G715A:p.G239R;ENSG00000141431:ENST00000592288:exon8:c.G718A:p.G240R;	0.999937040539793	0.986
18	31251830	G	C	18	33671866	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.G715C:p.G239R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.G715C:p.G239R;ENSG00000141431:ENST00000592288:exon8:c.G718C:p.G240R;	0.999971251563869	0.976
18	31251830	G	T	18	33671866	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon7:c.G715T:p.G239W;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon7:c.G715T:p.G239W;ENSG00000141431:ENST00000592288:exon8:c.G718T:p.G240W;	0.999957311949259	0.982
18	31251831	G	A	18	33671867	y	y	splicing	ASXL3(NM_030632:exon7:c.715+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.718+1G>A;ENST00000269197:exon7:c.715+1G>A)	.	.	0.999989072007339	0.93
18	31251831	G	C	18	33671867	y	y	splicing	ASXL3(NM_030632:exon7:c.715+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.718+1G>C;ENST00000269197:exon7:c.715+1G>C)	.	.	0.999989072007339	0.934
18	31251831	G	T	18	33671867	y	y	splicing	ASXL3(NM_030632:exon7:c.715+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.718+1G>T;ENST00000269197:exon7:c.715+1G>T)	.	.	0.999989072007339	0.934
18	31251832	T	A	18	33671868	y	y	splicing	ASXL3(NM_030632:exon7:c.715+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.718+2T>A;ENST00000269197:exon7:c.715+2T>A)	.	.	0.999988247793601	0.928
18	31251832	T	C	18	33671868	y	y	splicing	ASXL3(NM_030632:exon7:c.715+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.718+2T>C;ENST00000269197:exon7:c.715+2T>C)	.	.	0.999943260809542	0.858
18	31251832	T	G	18	33671868	y	y	splicing	ASXL3(NM_030632:exon7:c.715+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon8:c.718+2T>G;ENST00000269197:exon7:c.715+2T>G)	.	.	0.999988247793601	0.928
18	31251833	G	A	18	33671869	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.74504297196234E-5	0.0
18	31251833	G	C	18	33671869	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0965756074109122	0.384
18	31251833	G	T	18	33671869	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.263392852049418	0.43
18	31251834	A	C	18	33671870	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.804454295768647	0.57
18	31251834	A	G	18	33671870	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.97329575956776	0.738
18	31251834	A	T	18	33671870	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.995516537418664	0.656
18	31251835	G	A	18	33671871	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999235782913318	0.914
18	31251835	G	C	18	33671871	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999164397804358	0.894
18	31251835	G	T	18	33671871	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999362976717146	0.904
18	31251836	T	A	18	33671872	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.963464275356562	0.55
18	31251836	T	C	18	33671872	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.426171592504247	0.384
18	31251836	T	G	18	33671872	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.330237689455269	0.422
18	31251837	G	A	18	33671873	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.64715185626536E-5	0.002
18	31251837	G	C	18	33671873	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.82685551969961E-5	0.072
18	31251837	G	T	18	33671873	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	9.03330379632406E-5	0.016
18	31251838	T	A	18	33671874	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.73406751144135E-5	0.002
18	31251838	T	C	18	33671874	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.73406751144135E-5	0.0
18	31251838	T	G	18	33671874	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.73406751144135E-5	0.0
18	31263357	T	A	18	33683393	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999921654233315	0.936
18	31263357	T	C	18	33683393	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.129368271206252	0.37
18	31263357	T	G	18	33683393	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.9861871771022	0.722
18	31263358	G	A	18	33683394	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.54238138237689E-4	0.018
18	31263358	G	C	18	33683394	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.94325314416733E-5	0.004
18	31263358	G	T	18	33683394	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.95274895512644E-5	0.002
18	31263359	T	A	18	33683395	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.940113530830829	0.73
18	31263359	T	C	18	33683395	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00314371844693405	0.094
18	31263359	T	G	18	33683395	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.94597110015209	0.698
18	31263360	T	A	18	33683396	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.99671959270634	0.81
18	31263360	T	C	18	33683396	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.102670013636963	0.36
18	31263360	T	G	18	33683396	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.988853669181117	0.686
18	31263361	C	A	18	33683397	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00390640300976654	0.184
18	31263361	C	G	18	33683397	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00148455393544687	0.112
18	31263361	C	T	18	33683397	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.26109718485167E-4	0.006
18	31263362	A	C	18	33683398	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.90132531978887E-5	0.02
18	31263362	A	G	18	33683398	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.85136382819797E-5	0.008
18	31263362	A	T	18	33683398	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.0093949656534E-5	0.004
18	31263363	T	A	18	33683399	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.81137459108186	0.554
18	31263363	T	C	18	33683399	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0022986016791531	0.074
18	31263363	T	G	18	33683399	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999958481983695	0.94
18	31263364	C	A	18	33683400	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.96346800218269E-4	0.062
18	31263364	C	G	18	33683400	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00165493809385147	0.072
18	31263364	C	T	18	33683400	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.1800672146567E-4	0.0
18	31263365	A	C	18	33683401	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.92999082781586E-4	0.008
18	31263365	A	G	18	33683401	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.66893195123837E-4	0.02
18	31263365	A	T	18	33683401	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.49177857406514E-4	0.022
18	31263366	C	A	18	33683402	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.824496301098793	0.7
18	31263366	C	G	18	33683402	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999940279496544	0.926
18	31263366	C	T	18	33683402	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0407172881352139	0.078
18	31263367	A	C	18	33683403	y	y	splicing	ASXL3(NM_030632:exon8:c.716-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.719-2A>C;ENST00000269197:exon8:c.716-2A>C)	.	.	0.999993519952936	0.928
18	31263367	A	G	18	33683403	y	y	splicing	ASXL3(NM_030632:exon8:c.716-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.719-2A>G;ENST00000269197:exon8:c.716-2A>G)	.	.	0.999993519952936	0.928
18	31263367	A	T	18	33683403	y	y	splicing	ASXL3(NM_030632:exon8:c.716-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.719-2A>T;ENST00000269197:exon8:c.716-2A>T)	.	.	0.999993519952936	0.928
18	31263368	G	A	18	33683404	y	y	splicing	ASXL3(NM_030632:exon8:c.716-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.719-1G>A;ENST00000269197:exon8:c.716-1G>A)	.	.	0.999988247793601	0.936
18	31263368	G	C	18	33683404	y	y	splicing	ASXL3(NM_030632:exon8:c.716-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.719-1G>C;ENST00000269197:exon8:c.716-1G>C)	.	.	0.999988247793601	0.936
18	31263368	G	T	18	33683404	y	y	splicing	ASXL3(NM_030632:exon8:c.716-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.719-1G>T;ENST00000269197:exon8:c.716-1G>T)	.	.	0.999988247793601	0.936
18	31263369	G	A	18	33683405	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.G716A:p.G239E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G716A:p.G239E;ENSG00000141431:ENST00000592288:exon9:c.G719A:p.G240E;	0.993640868091718	0.814
18	31263369	G	C	18	33683405	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.G716C:p.G239A;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G716C:p.G239A;ENSG00000141431:ENST00000592288:exon9:c.G719C:p.G240A;	0.998646248814376	0.83
18	31263369	G	T	18	33683405	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.G716T:p.G239V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G716T:p.G239V;ENSG00000141431:ENST00000592288:exon9:c.G719T:p.G240V;	0.999046515212243	0.928
18	31263370	G	A	18	33683406	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon8:c.G717A:p.G239G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G717A:p.G239G;ENSG00000141431:ENST00000592288:exon9:c.G720A:p.G240G;	1.30545662054536E-4	0.028
18	31263370	G	C	18	33683406	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon8:c.G717C:p.G239G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G717C:p.G239G;ENSG00000141431:ENST00000592288:exon9:c.G720C:p.G240G;	9.57510209372078E-5	0.01
18	31263370	G	T	18	33683406	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon8:c.G717T:p.G239G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G717T:p.G239G;ENSG00000141431:ENST00000592288:exon9:c.G720T:p.G240G;	4.55711441961281E-5	0.002
18	31263530	C	A	18	33683566	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.C877A:p.Q293K;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.C877A:p.Q293K;ENSG00000141431:ENST00000592288:exon9:c.C880A:p.Q294K;	0.925546026533334	0.792
18	31263530	C	G	18	33683566	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.C877G:p.Q293E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.C877G:p.Q293E;ENSG00000141431:ENST00000592288:exon9:c.C880G:p.Q294E;	0.858509454632506	0.624
18	31263530	C	T	18	33683566	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon8:c.C877T:p.Q293X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon8:c.C877T:p.Q293X;ENSG00000141431:ENST00000592288:exon9:c.C880T:p.Q294X;	0.99660737890395	0.74
18	31263531	A	C	18	33683567	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.A878C:p.Q293P;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.A878C:p.Q293P;ENSG00000141431:ENST00000592288:exon9:c.A881C:p.Q294P;	0.991240635347241	0.726
18	31263531	A	G	18	33683567	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.A878G:p.Q293R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.A878G:p.Q293R;ENSG00000141431:ENST00000592288:exon9:c.A881G:p.Q294R;	0.989323633048998	0.726
18	31263531	A	T	18	33683567	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.A878T:p.Q293L;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.A878T:p.Q293L;ENSG00000141431:ENST00000592288:exon9:c.A881T:p.Q294L;	0.985979463266321	0.624
18	31263532	G	A	18	33683568	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon8:c.G879A:p.Q293Q;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G879A:p.Q293Q;ENSG00000141431:ENST00000592288:exon9:c.G882A:p.Q294Q;	0.998422401442994	0.784
18	31263532	G	C	18	33683568	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.G879C:p.Q293H;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G879C:p.Q293H;ENSG00000141431:ENST00000592288:exon9:c.G882C:p.Q294H;	0.99972399928552	0.846
18	31263532	G	T	18	33683568	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon8:c.G879T:p.Q293H;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon8:c.G879T:p.Q293H;ENSG00000141431:ENST00000592288:exon9:c.G882T:p.Q294H;	0.999564394716536	0.882
18	31263533	G	A	18	33683569	y	y	splicing	ASXL3(NM_030632:exon8:c.879+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.882+1G>A;ENST00000269197:exon8:c.879+1G>A)	.	.	0.999985532734767	0.936
18	31263533	G	C	18	33683569	y	y	splicing	ASXL3(NM_030632:exon8:c.879+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.882+1G>C;ENST00000269197:exon8:c.879+1G>C)	.	.	0.999985532734767	0.936
18	31263533	G	T	18	33683569	y	y	splicing	ASXL3(NM_030632:exon8:c.879+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.882+1G>T;ENST00000269197:exon8:c.879+1G>T)	.	.	0.999985532734767	0.936
18	31263534	T	A	18	33683570	y	y	splicing	ASXL3(NM_030632:exon8:c.879+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.882+2T>A;ENST00000269197:exon8:c.879+2T>A)	.	.	0.999988247793601	0.928
18	31263534	T	C	18	33683570	y	y	splicing	ASXL3(NM_030632:exon8:c.879+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.882+2T>C;ENST00000269197:exon8:c.879+2T>C)	.	.	0.992783534660112	0.656
18	31263534	T	G	18	33683570	y	y	splicing	ASXL3(NM_030632:exon8:c.879+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon9:c.882+2T>G;ENST00000269197:exon8:c.879+2T>G)	.	.	0.999988247793601	0.928
18	31263535	A	C	18	33683571	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.984373989866094	0.744
18	31263535	A	G	18	33683571	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.115517104603799	0.136
18	31263535	A	T	18	33683571	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.95646044908786	0.696
18	31263536	A	C	18	33683572	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.721030882856703	0.522
18	31263536	A	G	18	33683572	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.917135069454912	0.598
18	31263536	A	T	18	33683572	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.791456619423593	0.556
18	31263537	G	A	18	33683573	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.857578782004656	0.63
18	31263537	G	C	18	33683573	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.938545122935905	0.598
18	31263537	G	T	18	33683573	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.956245012692186	0.672
18	31263538	T	A	18	33683574	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.375625049031513	0.336
18	31263538	T	C	18	33683574	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.461727560025951	0.332
18	31263538	T	G	18	33683574	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.21503037088627	0.194
18	31263539	A	C	18	33683575	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.69336657131178E-4	0.004
18	31263539	A	G	18	33683575	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.86351849847316E-4	0.004
18	31263539	A	T	18	33683575	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.78688389519896E-4	0.026
18	31263540	G	A	18	33683576	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.76314105744779E-4	0.006
18	31263540	G	C	18	33683576	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0021216575077385	0.012
18	31263540	G	T	18	33683576	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.76314105744779E-4	0.018
18	31270194	T	A	18	33690230	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.455930068921E-5	0.004
18	31270194	T	C	18	33690230	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.38731564659595E-5	0.004
18	31270194	T	G	18	33690230	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.38731564659595E-5	0.004
18	31270195	C	A	18	33690231	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.45277156108894E-5	0.0
18	31270195	C	G	18	33690231	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.45277156108894E-5	0.0
18	31270195	C	T	18	33690231	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.45277156108894E-5	0.0
18	31270196	T	A	18	33690232	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.20484054425989E-5	0.0
18	31270196	T	C	18	33690232	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.20484054425989E-5	0.0
18	31270196	T	G	18	33690232	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.20484054425989E-5	0.0
18	31270197	C	A	18	33690233	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.10835425680824E-5	0.002
18	31270197	C	G	18	33690233	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.10835425680824E-5	0.002
18	31270197	C	T	18	33690233	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.10835425680824E-5	0.002
18	31270198	T	A	18	33690234	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.99263190704948E-5	0.0
18	31270198	T	C	18	33690234	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.99263190704948E-5	0.0
18	31270198	T	G	18	33690234	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.99263190704948E-5	0.0
18	31270199	G	A	18	33690235	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.19415310822882E-5	0.01
18	31270199	G	C	18	33690235	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.19415310822882E-5	0.006
18	31270199	G	T	18	33690235	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.19415310822882E-5	0.006
18	31270200	C	A	18	33690236	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.87972251271127E-5	0.0
18	31270200	C	G	18	33690236	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.85084382224889E-5	0.03
18	31270200	C	T	18	33690236	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.87972251271127E-5	0.0
18	31270201	C	A	18	33690237	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.7749166663215E-5	0.006
18	31270201	C	G	18	33690237	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.7749166663215E-5	0.0
18	31270201	C	T	18	33690237	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.57076726553018E-5	0.006
18	31270202	C	A	18	33690238	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.55948984093289E-5	0.014
18	31270202	C	G	18	33690238	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.55948984093289E-5	0.018
18	31270202	C	T	18	33690238	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.55948984093289E-5	0.014
18	31270203	C	A	18	33690239	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.19415310822882E-5	0.006
18	31270203	C	G	18	33690239	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.19415310822882E-5	0.006
18	31270203	C	T	18	33690239	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.19415310822882E-5	0.01
18	31270204	A	C	18	33690240	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.883-2A>C)	.	.	4.10529984002121E-5	0.034
18	31270204	A	G	18	33690240	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.883-2A>G)	.	.	4.10529984002121E-5	0.034
18	31270204	A	T	18	33690240	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.883-2A>T)	.	.	8.53292460361593E-5	0.042
18	31270205	G	A	18	33690241	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.883-1G>A)	.	.	6.07826059035764E-5	0.022
18	31270205	G	C	18	33690241	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.883-1G>C)	.	.	3.34420147489895E-5	0.024
18	31270205	G	T	18	33690241	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.883-1G>T)	.	.	3.34420147489895E-5	0.026
18	31270206	T	A	18	33690242	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon10:c.T883A:p.S295T;	3.78864525412067E-5	0.0
18	31270206	T	C	18	33690242	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon10:c.T883C:p.S295P;	3.78864525412067E-5	0.0
18	31270206	T	G	18	33690242	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon10:c.T883G:p.S295A;	3.78864525412067E-5	0.022
18	31270207	C	A	18	33690243	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon10:c.C884A:p.S295Y;	7.10138825602451E-5	0.0
18	31270207	C	G	18	33690243	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon10:c.C884G:p.S295C;	7.10138825602451E-5	0.0
18	31270207	C	T	18	33690243	n	y	intronic	ASXL3	.	.	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000592288:exon10:c.C884T:p.S295F;	7.10138825602451E-5	0.0
18	31270281	A	C	18	33690317	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	4.11713759611921E-5	0.0
18	31270281	A	G	18	33690317	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	4.11713759611921E-5	0.0
18	31270281	A	T	18	33690317	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	7.48306501328221E-5	0.0
18	31270282	A	C	18	33690318	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	2.455930068921E-5	0.006
18	31270282	A	G	18	33690318	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	2.455930068921E-5	0.006
18	31270282	A	T	18	33690318	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	2.455930068921E-5	0.006
18	31270283	G	A	18	33690319	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	3.78864525412067E-5	0.0
18	31270283	G	C	18	33690319	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	3.78864525412067E-5	0.0
18	31270283	G	T	18	33690319	n	y	intronic	ASXL3	.	.	UTR3	ENSG00000141431	.	.	3.78864525412067E-5	0.0
18	31270284	G	A	18	33690320	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.960+1G>A)	.	.	1.23990001900786E-4	0.0
18	31270284	G	C	18	33690320	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.960+1G>C)	.	.	2.86359644168464E-5	0.0
18	31270284	G	T	18	33690320	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.960+1G>T)	.	.	2.86359644168464E-5	0.0
18	31270285	T	A	18	33690321	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.960+2T>A)	.	.	9.49551173556722E-4	0.006
18	31270285	T	C	18	33690321	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.960+2T>C)	.	.	6.38118228050303E-4	0.006
18	31270285	T	G	18	33690321	n	y	intronic	ASXL3	.	.	splicing	ENSG00000141431(ENST00000592288:exon10:c.960+2T>G)	.	.	6.38118228050303E-4	0.006
18	31270286	G	A	18	33690322	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.94771332132184E-4	0.02
18	31270286	G	C	18	33690322	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.94771332132184E-4	0.02
18	31270286	G	T	18	33690322	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.94771332132184E-4	0.02
18	31270287	T	A	18	33690323	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.76357584838511E-5	0.02
18	31270287	T	C	18	33690323	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.76357584838511E-5	0.02
18	31270287	T	G	18	33690323	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.76357584838511E-5	0.02
18	31270288	G	A	18	33690324	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.57076726553018E-5	0.0
18	31270288	G	C	18	33690324	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.57076726553018E-5	0.006
18	31270288	G	T	18	33690324	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.57076726553018E-5	0.0
18	31270289	C	A	18	33690325	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.65388135286213E-5	0.0
18	31270289	C	G	18	33690325	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.65388135286213E-5	0.002
18	31270289	C	T	18	33690325	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.65388135286213E-5	0.0
18	31270290	T	A	18	33690326	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.38118228050303E-4	0.018
18	31270290	T	C	18	33690326	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.38118228050303E-4	0.018
18	31270290	T	G	18	33690326	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.38118228050303E-4	0.018
18	31270291	C	A	18	33690327	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.69256052846396E-4	0.102
18	31270291	C	G	18	33690327	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.69256052846396E-4	0.102
18	31270291	C	T	18	33690327	n	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.69256052846396E-4	0.1
18	31311920	T	A	18	33731956	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998798127161377	0.892
18	31311920	T	C	18	33731956	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.37350043939737	0.46
18	31311920	T	G	18	33731956	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.996921693476708	0.878
18	31311921	T	A	18	33731957	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998307650326298	0.916
18	31311921	T	C	18	33731957	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.980385283503381	0.598
18	31311921	T	G	18	33731957	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.995196472441093	0.852
18	31311922	A	C	18	33731958	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.93782598166042E-4	0.278
18	31311922	A	G	18	33731958	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.89276167130267E-4	0.198
18	31311922	A	T	18	33731958	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.94417741982185E-4	0.328
18	31311923	T	A	18	33731959	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.026863679464055	0.422
18	31311923	T	C	18	33731959	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.0682100137698E-4	0.064
18	31311923	T	G	18	33731959	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999944621773044	0.978
18	31311924	T	A	18	33731960	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.992423182049479	0.752
18	31311924	T	C	18	33731960	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0103200541855719	0.256
18	31311924	T	G	18	33731960	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.578653877760307	0.534
18	31311925	T	A	18	33731961	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.992799696470165	0.744
18	31311925	T	C	18	33731961	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0512212192075692	0.368
18	31311925	T	G	18	33731961	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.993334040267217	0.656
18	31311926	T	A	18	33731962	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.99505146224413	0.808
18	31311926	T	C	18	33731962	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00918160813902478	0.27
18	31311926	T	G	18	33731962	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.986508043709522	0.858
18	31311927	C	A	18	33731963	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00405361264425306	0.09
18	31311927	C	G	18	33731963	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0192589010418991	0.088
18	31311927	C	T	18	33731963	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.88121172101225E-4	0.006
18	31311928	C	A	18	33731964	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00131907903008387	0.068
18	31311928	C	G	18	33731964	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00237870040779001	0.054
18	31311928	C	T	18	33731964	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0011932923786299	0.07
18	31311929	T	A	18	33731965	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.922763305629818	0.776
18	31311929	T	C	18	33731965	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0153302877360791	0.112
18	31311929	T	G	18	33731965	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999492671503735	0.924
18	31311930	A	C	18	33731966	y	y	splicing	ASXL3(NM_030632:exon9:c.880-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.961-2A>C;ENST00000269197:exon9:c.880-2A>C)	.	.	0.999988247793601	0.93
18	31311930	A	G	18	33731966	y	y	splicing	ASXL3(NM_030632:exon9:c.880-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.961-2A>G;ENST00000269197:exon9:c.880-2A>G)	.	.	0.999988247793601	0.93
18	31311930	A	T	18	33731966	y	y	splicing	ASXL3(NM_030632:exon9:c.880-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.961-2A>T;ENST00000269197:exon9:c.880-2A>T)	.	.	0.999988247793601	0.93
18	31311931	G	A	18	33731967	y	y	splicing	ASXL3(NM_030632:exon9:c.880-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.961-1G>A;ENST00000269197:exon9:c.880-1G>A)	.	.	0.999989072007339	0.934
18	31311931	G	C	18	33731967	y	y	splicing	ASXL3(NM_030632:exon9:c.880-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.961-1G>C;ENST00000269197:exon9:c.880-1G>C)	.	.	0.999989072007339	0.934
18	31311931	G	T	18	33731967	y	y	splicing	ASXL3(NM_030632:exon9:c.880-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.961-1G>T;ENST00000269197:exon9:c.880-1G>T)	.	.	0.999989072007339	0.934
18	31311932	A	C	18	33731968	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.A880C:p.M294L;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A880C:p.M294L;	0.448270537424195	0.682
18	31311932	A	G	18	33731968	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.A880G:p.M294V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A880G:p.M294V;	0.0686101907330526	0.306
18	31311932	A	T	18	33731968	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.A880T:p.M294L;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A880T:p.M294L;	0.448270537424195	0.578
18	31311933	T	A	18	33731969	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.T881A:p.M294K;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.T881A:p.M294K;	0.743269458830556	0.554
18	31311933	T	C	18	33731969	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.T881C:p.M294T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.T881C:p.M294T;	0.507082891428214	0.488
18	31311933	T	G	18	33731969	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.T881G:p.M294R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.T881G:p.M294R;	0.720858771057887	0.526
18	31312026	A	C	18	33732062	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.A974C:p.E325A;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A974C:p.E325A;	0.0262558442071734	0.256
18	31312026	A	G	18	33732062	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.A974G:p.E325G;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A974G:p.E325G;	0.00350564143437391	0.11
18	31312026	A	T	18	33732062	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.A974T:p.E325V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A974T:p.E325V;	0.521381138390362	0.556
18	31312027	A	C	18	33732063	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.A975C:p.E325D;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A975C:p.E325D;	0.996135468872378	0.882
18	31312027	A	G	18	33732063	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon9:c.A975G:p.E325E;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A975G:p.E325E;	0.994644533832963	0.972
18	31312027	A	T	18	33732063	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.A975T:p.E325D;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.A975T:p.E325D;	0.999596394654792	0.992
18	31312028	G	A	18	33732064	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.G976A:p.G326R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.G976A:p.G326R;	0.999966415219118	0.982
18	31312028	G	C	18	33732064	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon9:c.G976C:p.G326R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon9:c.G976C:p.G326R;	0.999997849951826	0.964
18	31312028	G	T	18	33732064	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon9:c.G976T:p.G326X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon9:c.G976T:p.G326X;	0.999976930517097	0.97
18	31312029	G	A	18	33732065	y	y	splicing	ASXL3(NM_030632:exon9:c.976+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.1057+1G>A;ENST00000269197:exon9:c.976+1G>A)	.	.	0.999990361384395	0.938
18	31312029	G	C	18	33732065	y	y	splicing	ASXL3(NM_030632:exon9:c.976+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.1057+1G>C;ENST00000269197:exon9:c.976+1G>C)	.	.	0.999990361384395	0.938
18	31312029	G	T	18	33732065	y	y	splicing	ASXL3(NM_030632:exon9:c.976+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.1057+1G>T;ENST00000269197:exon9:c.976+1G>T)	.	.	0.999990361384395	0.938
18	31312030	T	A	18	33732066	y	y	splicing	ASXL3(NM_030632:exon9:c.976+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.1057+2T>A;ENST00000269197:exon9:c.976+2T>A)	.	.	0.999988247793601	0.932
18	31312030	T	C	18	33732066	y	y	splicing	ASXL3(NM_030632:exon9:c.976+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.1057+2T>C;ENST00000269197:exon9:c.976+2T>C)	.	.	0.996388929962285	0.726
18	31312030	T	G	18	33732066	y	y	splicing	ASXL3(NM_030632:exon9:c.976+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon11:c.1057+2T>G;ENST00000269197:exon9:c.976+2T>G)	.	.	0.999988247793601	0.932
18	31312031	A	C	18	33732067	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.997543598884544	0.926
18	31312031	A	G	18	33732067	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.906430499143859	0.798
18	31312031	A	T	18	33732067	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998830632693409	0.91
18	31312032	A	C	18	33732068	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.996447571156316	0.888
18	31312032	A	G	18	33732068	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999146470432108	0.888
18	31312032	A	T	18	33732068	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998915039461035	0.89
18	31312033	A	C	18	33732069	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.94529815883984E-5	0.044
18	31312033	A	G	18	33732069	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.4643795165601E-4	0.032
18	31312033	A	T	18	33732069	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.55813238031203E-4	0.028
18	31312034	T	A	18	33732070	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.248621144221853	0.392
18	31312034	T	C	18	33732070	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.190192222659137	0.488
18	31312034	T	G	18	33732070	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0370005661130661	0.35
18	31312035	T	A	18	33732071	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.41195228314262E-4	0.002
18	31312035	T	C	18	33732071	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.4733247970778E-4	0.002
18	31312035	T	G	18	33732071	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.73260790542667E-4	0.0
18	31312036	T	A	18	33732072	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.43949593129782E-5	0.0
18	31312036	T	C	18	33732072	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.07857247642173E-5	0.0
18	31312036	T	G	18	33732072	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.60676020071976E-5	0.0
18	31314262	T	A	18	33734298	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0174872232332805	0.256
18	31314262	T	C	18	33734298	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.85424285131604E-4	0.052
18	31314262	T	G	18	33734298	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999658282084747	0.94
18	31314263	T	A	18	33734299	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.970260191065414	0.674
18	31314263	T	C	18	33734299	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.500020974564071	0.44
18	31314263	T	G	18	33734299	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.96279461301465	0.67
18	31314264	T	A	18	33734300	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.873952941779544	0.564
18	31314264	T	C	18	33734300	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.268866725745686	0.378
18	31314264	T	G	18	33734300	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.476805948851277	0.476
18	31314265	T	A	18	33734301	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0402485380626041	0.22
18	31314265	T	C	18	33734301	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.88173434028168E-4	0.026
18	31314265	T	G	18	33734301	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0154042843375987	0.174
18	31314266	C	A	18	33734302	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00215139244190618	0.136
18	31314266	C	G	18	33734302	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00152892386092034	0.044
18	31314266	C	T	18	33734302	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.56106105630166E-4	0.002
18	31314267	T	A	18	33734303	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00720088129017176	0.05
18	31314267	T	C	18	33734303	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.46027288283747E-4	0.006
18	31314267	T	G	18	33734303	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00196909594623438	0.02
18	31314268	T	A	18	33734304	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0211124916886388	0.14
18	31314268	T	C	18	33734304	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.05951898616664E-4	0.014
18	31314268	T	G	18	33734304	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.023755486161014	0.168
18	31314269	T	A	18	33734305	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0863260415266123	0.37
18	31314269	T	C	18	33734305	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00405841482897817	0.106
18	31314269	T	G	18	33734305	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.211139050557991	0.384
18	31314270	T	A	18	33734306	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.47270317108041E-4	0.024
18	31314270	T	C	18	33734306	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.02768352884551E-4	0.0
18	31314270	T	G	18	33734306	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.22118110026108E-4	0.008
18	31314271	T	A	18	33734307	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00438234776285831	0.192
18	31314271	T	C	18	33734307	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.75928427995032E-5	0.002
18	31314271	T	G	18	33734307	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.865531272878792	0.652
18	31314272	A	C	18	33734308	y	y	splicing	ASXL3(NM_030632:exon10:c.977-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1058-2A>C;ENST00000269197:exon10:c.977-2A>C)	.	.	0.999992446697775	0.932
18	31314272	A	G	18	33734308	y	y	splicing	ASXL3(NM_030632:exon10:c.977-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1058-2A>G;ENST00000269197:exon10:c.977-2A>G)	.	.	0.999992446697775	0.932
18	31314272	A	T	18	33734308	y	y	splicing	ASXL3(NM_030632:exon10:c.977-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1058-2A>T;ENST00000269197:exon10:c.977-2A>T)	.	.	0.999992446697775	0.932
18	31314273	G	A	18	33734309	y	y	splicing	ASXL3(NM_030632:exon10:c.977-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1058-1G>A;ENST00000269197:exon10:c.977-1G>A)	.	.	0.999990361384395	0.926
18	31314273	G	C	18	33734309	y	y	splicing	ASXL3(NM_030632:exon10:c.977-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1058-1G>C;ENST00000269197:exon10:c.977-1G>C)	.	.	0.999990361384395	0.926
18	31314273	G	T	18	33734309	y	y	splicing	ASXL3(NM_030632:exon10:c.977-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1058-1G>T;ENST00000269197:exon10:c.977-1G>T)	.	.	0.999990361384395	0.926
18	31314274	G	A	18	33734310	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.G977A:p.G326E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.G977A:p.G326E;	0.995239968382026	0.846
18	31314274	G	C	18	33734310	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.G977C:p.G326A;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.G977C:p.G326A;	0.999375902734939	0.93
18	31314274	G	T	18	33734310	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.G977T:p.G326V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.G977T:p.G326V;	0.999624968518951	0.944
18	31314275	A	C	18	33734311	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon10:c.A978C:p.G326G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A978C:p.G326G;	7.20852087320414E-4	0.032
18	31314275	A	G	18	33734311	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon10:c.A978G:p.G326G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A978G:p.G326G;	1.69443255071501E-4	0.022
18	31314275	A	T	18	33734311	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon10:c.A978T:p.G326G;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A978T:p.G326G;	1.08173946598883E-4	0.024
18	31314377	A	C	18	33734413	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.A1080C:p.E360D;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A1080C:p.E360D;	0.00490408140431803	0.228
18	31314377	A	G	18	33734413	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon10:c.A1080G:p.E360E;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A1080G:p.E360E;	0.00147135599228141	0.024
18	31314377	A	T	18	33734413	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.A1080T:p.E360D;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A1080T:p.E360D;	0.053236091698864	0.324
18	31314378	A	C	18	33734414	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.A1081C:p.K361Q;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A1081C:p.K361Q;	0.991035015867699	0.91
18	31314378	A	G	18	33734414	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.A1081G:p.K361E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A1081G:p.K361E;	0.994339322172891	0.886
18	31314378	A	T	18	33734414	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon10:c.A1081T:p.K361X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon10:c.A1081T:p.K361X;	0.992587453122696	0.784
18	31314379	A	C	18	33734415	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.A1082C:p.K361T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A1082C:p.K361T;	0.0164666176237987	0.198
18	31314379	A	G	18	33734415	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.A1082G:p.K361R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A1082G:p.K361R;	8.5650042267889E-4	0.058
18	31314379	A	T	18	33734415	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon10:c.A1082T:p.K361M;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon10:c.A1082T:p.K361M;	0.0249359210194322	0.16
18	31314380	G	A	18	33734416	y	y	splicing	ASXL3(NM_030632:exon10:c.1082+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1163+1G>A;ENST00000269197:exon10:c.1082+1G>A)	.	.	0.999990361384395	0.926
18	31314380	G	C	18	33734416	y	y	splicing	ASXL3(NM_030632:exon10:c.1082+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1163+1G>C;ENST00000269197:exon10:c.1082+1G>C)	.	.	0.999990361384395	0.926
18	31314380	G	T	18	33734416	y	y	splicing	ASXL3(NM_030632:exon10:c.1082+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1163+1G>T;ENST00000269197:exon10:c.1082+1G>T)	.	.	0.999990361384395	0.926
18	31314381	T	A	18	33734417	y	y	splicing	ASXL3(NM_030632:exon10:c.1082+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1163+2T>A;ENST00000269197:exon10:c.1082+2T>A)	.	.	0.999992446697775	0.932
18	31314381	T	C	18	33734417	y	y	splicing	ASXL3(NM_030632:exon10:c.1082+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1163+2T>C;ENST00000269197:exon10:c.1082+2T>C)	.	.	0.993808943985639	0.66
18	31314381	T	G	18	33734417	y	y	splicing	ASXL3(NM_030632:exon10:c.1082+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon12:c.1163+2T>G;ENST00000269197:exon10:c.1082+2T>G)	.	.	0.999992446697775	0.932
18	31314382	A	C	18	33734418	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999790524469829	0.904
18	31314382	A	G	18	33734418	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.470275079836271	0.344
18	31314382	A	T	18	33734418	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.994245648417809	0.87
18	31314383	A	C	18	33734419	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.992632808638628	0.814
18	31314383	A	G	18	33734419	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998227976669372	0.872
18	31314383	A	T	18	33734419	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.996875317406522	0.826
18	31314384	G	A	18	33734420	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.996929802928834	0.856
18	31314384	G	C	18	33734420	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998574110393709	0.878
18	31314384	G	T	18	33734420	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999626618872011	0.804
18	31314385	T	A	18	33734421	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.899445024220207	0.62
18	31314385	T	C	18	33734421	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.683636388081445	0.646
18	31314385	T	G	18	33734421	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.816612980496453	0.61
18	31314386	A	C	18	33734422	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00165993440954938	0.004
18	31314386	A	G	18	33734422	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00165993440954938	0.004
18	31314386	A	T	18	33734422	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00115202640557102	0.006
18	31314387	C	A	18	33734423	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.67602041430492E-4	0.002
18	31314387	C	G	18	33734423	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.44222342985721E-4	0.0
18	31314387	C	T	18	33734423	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.28495847559298E-4	0.002
18	31318439	A	C	18	33738475	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.97219785777508E-5	0.0
18	31318439	A	G	18	33738475	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998353704829888	0.978
18	31318439	A	T	18	33738475	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.97219785777508E-5	0.002
18	31318440	T	A	18	33738476	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.798945956868235	0.51
18	31318440	T	C	18	33738476	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0553237767394173	0.218
18	31318440	T	G	18	33738476	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.99996062522319	0.948
18	31318441	T	A	18	33738477	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.77845663239256	0.472
18	31318441	T	C	18	33738477	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.67808927734151E-4	0.016
18	31318441	T	G	18	33738477	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0194994788515006	0.298
18	31318442	T	A	18	33738478	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.533518790971915	0.504
18	31318442	T	C	18	33738478	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.20986851269612E-4	0.008
18	31318442	T	G	18	33738478	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.445141766743779	0.48
18	31318443	C	A	18	33738479	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.63030134615819E-4	0.046
18	31318443	C	G	18	33738479	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.24096124044531E-4	0.05
18	31318443	C	T	18	33738479	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.3320199643857E-5	0.024
18	31318444	T	A	18	33738480	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999931937355083	0.958
18	31318444	T	C	18	33738480	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.56078780562631E-4	0.02
18	31318444	T	G	18	33738480	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.523838192669722	0.388
18	31318445	G	A	18	33738481	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.31702002061033E-5	0.014
18	31318445	G	C	18	33738481	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.06891156179159E-5	0.002
18	31318445	G	T	18	33738481	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.58793089101854E-5	0.002
18	31318446	T	A	18	33738482	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0654128705005541	0.524
18	31318446	T	C	18	33738482	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.83888248041738E-5	0.01
18	31318446	T	G	18	33738482	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.336106244735176	0.52
18	31318447	A	C	18	33738483	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.92776617882828E-5	0.0
18	31318447	A	G	18	33738483	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.26879423084274E-5	0.0
18	31318447	A	T	18	33738483	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.51983994814529E-5	0.0
18	31318448	C	A	18	33738484	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.972279879328769	0.654
18	31318448	C	G	18	33738484	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999918529362584	0.936
18	31318448	C	T	18	33738484	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00407887253638831	0.07
18	31318449	A	C	18	33738485	y	y	splicing	ASXL3(NM_030632:exon11:c.1083-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.1164-2A>C;ENST00000269197:exon11:c.1083-2A>C)	.	.	0.999966203349492	0.944
18	31318449	A	G	18	33738485	y	y	splicing	ASXL3(NM_030632:exon11:c.1083-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.1164-2A>G;ENST00000269197:exon11:c.1083-2A>G)	.	.	0.999966203349492	0.944
18	31318449	A	T	18	33738485	y	y	splicing	ASXL3(NM_030632:exon11:c.1083-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.1164-2A>T;ENST00000269197:exon11:c.1083-2A>T)	.	.	0.999966203349492	0.94
18	31318450	G	A	18	33738486	y	y	splicing	ASXL3(NM_030632:exon11:c.1083-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.1164-1G>A;ENST00000269197:exon11:c.1083-1G>A)	.	.	0.999938422912956	0.942
18	31318450	G	C	18	33738486	y	y	splicing	ASXL3(NM_030632:exon11:c.1083-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.1164-1G>C;ENST00000269197:exon11:c.1083-1G>C)	.	.	0.999938422912956	0.942
18	31318450	G	T	18	33738486	y	y	splicing	ASXL3(NM_030632:exon11:c.1083-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.1164-1G>T;ENST00000269197:exon11:c.1083-1G>T)	.	.	0.999938422912956	0.942
18	31318451	G	A	18	33738487	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon11:c.G1083A:p.K361K;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.G1083A:p.K361K;	2.93540731320852E-4	0.036
18	31318451	G	C	18	33738487	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.G1083C:p.K361N;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.G1083C:p.K361N;	0.0278100817599625	0.346
18	31318451	G	T	18	33738487	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.G1083T:p.K361N;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.G1083T:p.K361N;	0.46978972997846	0.504
18	31318452	C	A	18	33738488	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.C1084A:p.L362M;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.C1084A:p.L362M;	8.93223488053107E-5	0.01
18	31318452	C	G	18	33738488	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.C1084G:p.L362V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.C1084G:p.L362V;	4.35454310174485E-5	0.032
18	31318452	C	T	18	33738488	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon11:c.C1084T:p.L362L;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.C1084T:p.L362L;	8.71975530154653E-6	0.006
18	31320405	A	C	18	33740441	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.A3037C:p.K1013Q;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.A3037C:p.K1013Q;	0.497823235289583	0.556
18	31320405	A	G	18	33740441	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.A3037G:p.K1013E;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.A3037G:p.K1013E;	0.113789296886898	0.398
18	31320405	A	T	18	33740441	y	y	exonic	ASXL3	stopgain SNV	ASXL3:NM_030632:exon11:c.A3037T:p.K1013X;	exonic	ENSG00000141431	stopgain SNV	ENSG00000141431:ENST00000269197:exon11:c.A3037T:p.K1013X;	0.961563053235785	0.708
18	31320406	A	C	18	33740442	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.A3038C:p.K1013T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.A3038C:p.K1013T;	0.999434245306395	0.972
18	31320406	A	G	18	33740442	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.A3038G:p.K1013R;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.A3038G:p.K1013R;	0.999706724754517	0.99
18	31320406	A	T	18	33740442	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.A3038T:p.K1013M;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.A3038T:p.K1013M;	0.999745417843231	1.0
18	31320407	G	A	18	33740443	y	y	exonic	ASXL3	synonymous SNV	ASXL3:NM_030632:exon11:c.G3039A:p.K1013K;	exonic	ENSG00000141431	synonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.G3039A:p.K1013K;	0.999021175447641	0.972
18	31320407	G	C	18	33740443	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.G3039C:p.K1013N;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.G3039C:p.K1013N;	0.999997247587064	1.0
18	31320407	G	T	18	33740443	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.G3039T:p.K1013N;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon11:c.G3039T:p.K1013N;	0.9999815006363	0.99
18	31320408	G	A	18	33740444	y	y	splicing	ASXL3(NM_030632:exon11:c.3039+1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.3120+1G>A;ENST00000269197:exon11:c.3039+1G>A)	.	.	0.999985532734767	0.934
18	31320408	G	C	18	33740444	y	y	splicing	ASXL3(NM_030632:exon11:c.3039+1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.3120+1G>C;ENST00000269197:exon11:c.3039+1G>C)	.	.	0.999985532734767	0.934
18	31320408	G	T	18	33740444	y	y	splicing	ASXL3(NM_030632:exon11:c.3039+1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.3120+1G>T;ENST00000269197:exon11:c.3039+1G>T)	.	.	0.999985532734767	0.934
18	31320409	T	A	18	33740445	y	y	splicing	ASXL3(NM_030632:exon11:c.3039+2T>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.3120+2T>A;ENST00000269197:exon11:c.3039+2T>A)	.	.	0.999988247793601	0.926
18	31320409	T	C	18	33740445	y	y	splicing	ASXL3(NM_030632:exon11:c.3039+2T>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.3120+2T>C;ENST00000269197:exon11:c.3039+2T>C)	.	.	0.98918007292081	0.618
18	31320409	T	G	18	33740445	y	y	splicing	ASXL3(NM_030632:exon11:c.3039+2T>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon13:c.3120+2T>G;ENST00000269197:exon11:c.3039+2T>G)	.	.	0.999988247793601	0.926
18	31320410	A	C	18	33740446	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.998079797870786	0.94
18	31320410	A	G	18	33740446	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.997742800553216	0.776
18	31320410	A	T	18	33740446	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.999731387665298	0.93
18	31320411	T	A	18	33740447	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.52958327341551E-5	0.062
18	31320411	T	C	18	33740447	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	6.77295117012819E-5	0.0
18	31320411	T	G	18	33740447	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.07937664145995E-4	0.02
18	31320412	G	A	18	33740448	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.179187045728576	0.402
18	31320412	G	C	18	33740448	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.399078691250246	0.464
18	31320412	G	T	18	33740448	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.385745624677958	0.454
18	31320413	G	A	18	33740449	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.25322031542879E-5	0.01
18	31320413	G	C	18	33740449	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.03199287243913E-5	0.012
18	31320413	G	T	18	33740449	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.69595293648355E-5	0.028
18	31320414	T	A	18	33740450	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.28509288876342E-5	0.0
18	31320414	T	C	18	33740450	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.28509288876342E-5	0.0
18	31320414	T	G	18	33740450	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.28509288876342E-5	0.0
18	31320415	A	C	18	33740451	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.04829432612063E-5	0.0
18	31320415	A	G	18	33740451	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.27108323182196E-5	0.0
18	31320415	A	T	18	33740451	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.8268796721929E-5	0.004
18	31322840	T	A	18	33742876	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.04673558851681E-4	0.168
18	31322840	T	C	18	33742876	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.19114047474274E-5	0.02
18	31322840	T	G	18	33742876	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.04736470476058E-5	0.134
18	31322841	C	A	18	33742877	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.34567680454826E-4	0.07
18	31322841	C	G	18	33742877	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.76891927875947E-5	0.024
18	31322841	C	T	18	33742877	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.95112007251663E-5	0.002
18	31322842	C	A	18	33742878	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	4.30280689010406E-5	0.1
18	31322842	C	G	18	33742878	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.0733518571372E-5	0.104
18	31322842	C	T	18	33742878	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.14134548346686E-5	0.016
18	31322843	T	A	18	33742879	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.6240071264974E-4	0.1
18	31322843	T	C	18	33742879	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.52499606993364E-5	0.002
18	31322843	T	G	18	33742879	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.86419246842873E-5	0.066
18	31322844	C	A	18	33742880	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	7.53816808981117E-5	0.012
18	31322844	C	G	18	33742880	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.2201817066398E-5	0.006
18	31322844	C	T	18	33742880	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.11892150070521E-5	0.0
18	31322845	C	A	18	33742881	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.08468971387352E-5	0.046
18	31322845	C	G	18	33742881	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	5.08468971387352E-5	0.044
18	31322845	C	T	18	33742881	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	3.07650205600346E-5	0.014
18	31322846	T	A	18	33742882	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00113311702227818	0.084
18	31322846	T	C	18	33742882	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	9.84822538457086E-5	0.012
18	31322846	T	G	18	33742882	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00324927018790389	0.144
18	31322847	T	A	18	33742883	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0189788277436354	0.216
18	31322847	T	C	18	33742883	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	2.75311259841799E-4	0.026
18	31322847	T	G	18	33742883	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.0118052680924885	0.152
18	31322848	T	A	18	33742884	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.04331656960179E-4	0.006
18	31322848	T	C	18	33742884	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	8.72897149916972E-5	0.012
18	31322848	T	G	18	33742884	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.57481263067854E-4	0.008
18	31322849	T	A	18	33742885	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.00829085420918673	0.108
18	31322849	T	C	18	33742885	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	1.45277712802822E-4	0.008
18	31322849	T	G	18	33742885	y	y	intronic	ASXL3	.	.	intronic	ENSG00000141431	.	.	0.886554860252924	0.682
18	31322850	A	C	18	33742886	y	y	splicing	ASXL3(NM_030632:exon12:c.3040-2A>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon14:c.3121-2A>C;ENST00000269197:exon12:c.3040-2A>C)	.	.	0.999988247793601	0.926
18	31322850	A	G	18	33742886	y	y	splicing	ASXL3(NM_030632:exon12:c.3040-2A>G)	.	.	splicing	ENSG00000141431(ENST00000592288:exon14:c.3121-2A>G;ENST00000269197:exon12:c.3040-2A>G)	.	.	0.999988247793601	0.926
18	31322850	A	T	18	33742886	y	y	splicing	ASXL3(NM_030632:exon12:c.3040-2A>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon14:c.3121-2A>T;ENST00000269197:exon12:c.3040-2A>T)	.	.	0.999988247793601	0.926
18	31322851	G	A	18	33742887	y	y	splicing	ASXL3(NM_030632:exon12:c.3040-1G>A)	.	.	splicing	ENSG00000141431(ENST00000592288:exon14:c.3121-1G>A;ENST00000269197:exon12:c.3040-1G>A)	.	.	0.999989072007339	0.932
18	31322851	G	C	18	33742887	y	y	splicing	ASXL3(NM_030632:exon12:c.3040-1G>C)	.	.	splicing	ENSG00000141431(ENST00000592288:exon14:c.3121-1G>C;ENST00000269197:exon12:c.3040-1G>C)	.	.	0.999989072007339	0.922
18	31322851	G	T	18	33742887	y	y	splicing	ASXL3(NM_030632:exon12:c.3040-1G>T)	.	.	splicing	ENSG00000141431(ENST00000592288:exon14:c.3121-1G>T;ENST00000269197:exon12:c.3040-1G>T)	.	.	0.999989072007339	0.932
18	31322852	A	C	18	33742888	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.A3040C:p.I1014L;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon12:c.A3040C:p.I1014L;	0.308246519577001	0.688
18	31322852	A	G	18	33742888	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.A3040G:p.I1014V;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon12:c.A3040G:p.I1014V;	0.475922058748449	0.556
18	31322852	A	T	18	33742888	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.A3040T:p.I1014F;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon12:c.A3040T:p.I1014F;	0.236542758139148	0.508
18	31322853	T	A	18	33742889	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.T3041A:p.I1014N;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon12:c.T3041A:p.I1014N;	0.121137773821988	0.382
18	31322853	T	C	18	33742889	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.T3041C:p.I1014T;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon12:c.T3041C:p.I1014T;	0.192866780582603	0.426
18	31322853	T	G	18	33742889	y	y	exonic	ASXL3	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.T3041G:p.I1014S;	exonic	ENSG00000141431	nonsynonymous SNV	ENSG00000141431:ENST00000269197:exon12:c.T3041G:p.I1014S;	0.105658887913929	0.374
18	31432998	T	A	18	33853034	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon11:c.A1503T:p.G501G;NOL4:NM_003787:exon11:c.A1725T:p.G575G;NOL4:NM_001282527:exon11:c.A1068T:p.G356G;NOL4:NM_001198549:exon7:c.A870T:p.G290G;NOL4:NM_001198548:exon9:c.A1419T:p.G473G;NOL4:NM_001198546:exon10:c.A1533T:p.G511G;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon11:c.A1503T:p.G501G;ENSG00000101746:ENST00000535384:exon7:c.A870T:p.G290G;ENSG00000101746:ENST00000535475:exon11:c.A1068T:p.G356G;ENSG00000101746:ENST00000590712:exon10:c.A1485T:p.G495G;ENSG00000101746:ENST00000589544:exon9:c.A1419T:p.G473G;ENSG00000101746:ENST00000261592:exon11:c.A1725T:p.G575G;ENSG00000101746:ENST00000269185:exon9:c.A1077T:p.G359G;	1.72521371123297E-5	0.004
18	31432998	T	C	18	33853034	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon11:c.A1503G:p.G501G;NOL4:NM_003787:exon11:c.A1725G:p.G575G;NOL4:NM_001282527:exon11:c.A1068G:p.G356G;NOL4:NM_001198549:exon7:c.A870G:p.G290G;NOL4:NM_001198548:exon9:c.A1419G:p.G473G;NOL4:NM_001198546:exon10:c.A1533G:p.G511G;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon11:c.A1503G:p.G501G;ENSG00000101746:ENST00000535384:exon7:c.A870G:p.G290G;ENSG00000101746:ENST00000535475:exon11:c.A1068G:p.G356G;ENSG00000101746:ENST00000590712:exon10:c.A1485G:p.G495G;ENSG00000101746:ENST00000589544:exon9:c.A1419G:p.G473G;ENSG00000101746:ENST00000261592:exon11:c.A1725G:p.G575G;ENSG00000101746:ENST00000269185:exon9:c.A1077G:p.G359G;	1.74822535900403E-4	0.022
18	31432998	T	G	18	33853034	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon11:c.A1503C:p.G501G;NOL4:NM_003787:exon11:c.A1725C:p.G575G;NOL4:NM_001282527:exon11:c.A1068C:p.G356G;NOL4:NM_001198549:exon7:c.A870C:p.G290G;NOL4:NM_001198548:exon9:c.A1419C:p.G473G;NOL4:NM_001198546:exon10:c.A1533C:p.G511G;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon11:c.A1503C:p.G501G;ENSG00000101746:ENST00000535384:exon7:c.A870C:p.G290G;ENSG00000101746:ENST00000535475:exon11:c.A1068C:p.G356G;ENSG00000101746:ENST00000590712:exon10:c.A1485C:p.G495G;ENSG00000101746:ENST00000589544:exon9:c.A1419C:p.G473G;ENSG00000101746:ENST00000261592:exon11:c.A1725C:p.G575G;ENSG00000101746:ENST00000269185:exon9:c.A1077C:p.G359G;	9.58193556043371E-5	0.006
18	31432999	C	A	18	33853035	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon11:c.G1502T:p.G501V;NOL4:NM_003787:exon11:c.G1724T:p.G575V;NOL4:NM_001282527:exon11:c.G1067T:p.G356V;NOL4:NM_001198549:exon7:c.G869T:p.G290V;NOL4:NM_001198548:exon9:c.G1418T:p.G473V;NOL4:NM_001198546:exon10:c.G1532T:p.G511V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon11:c.G1502T:p.G501V;ENSG00000101746:ENST00000535384:exon7:c.G869T:p.G290V;ENSG00000101746:ENST00000535475:exon11:c.G1067T:p.G356V;ENSG00000101746:ENST00000590712:exon10:c.G1484T:p.G495V;ENSG00000101746:ENST00000589544:exon9:c.G1418T:p.G473V;ENSG00000101746:ENST00000261592:exon11:c.G1724T:p.G575V;ENSG00000101746:ENST00000269185:exon9:c.G1076T:p.G359V;	0.999916238074496	0.984
18	31432999	C	G	18	33853035	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon11:c.G1502C:p.G501A;NOL4:NM_003787:exon11:c.G1724C:p.G575A;NOL4:NM_001282527:exon11:c.G1067C:p.G356A;NOL4:NM_001198549:exon7:c.G869C:p.G290A;NOL4:NM_001198548:exon9:c.G1418C:p.G473A;NOL4:NM_001198546:exon10:c.G1532C:p.G511A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon11:c.G1502C:p.G501A;ENSG00000101746:ENST00000535384:exon7:c.G869C:p.G290A;ENSG00000101746:ENST00000535475:exon11:c.G1067C:p.G356A;ENSG00000101746:ENST00000590712:exon10:c.G1484C:p.G495A;ENSG00000101746:ENST00000589544:exon9:c.G1418C:p.G473A;ENSG00000101746:ENST00000261592:exon11:c.G1724C:p.G575A;ENSG00000101746:ENST00000269185:exon9:c.G1076C:p.G359A;	0.999811684868479	0.984
18	31432999	C	T	18	33853035	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon11:c.G1502A:p.G501E;NOL4:NM_003787:exon11:c.G1724A:p.G575E;NOL4:NM_001282527:exon11:c.G1067A:p.G356E;NOL4:NM_001198549:exon7:c.G869A:p.G290E;NOL4:NM_001198548:exon9:c.G1418A:p.G473E;NOL4:NM_001198546:exon10:c.G1532A:p.G511E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon11:c.G1502A:p.G501E;ENSG00000101746:ENST00000535384:exon7:c.G869A:p.G290E;ENSG00000101746:ENST00000535475:exon11:c.G1067A:p.G356E;ENSG00000101746:ENST00000590712:exon10:c.G1484A:p.G495E;ENSG00000101746:ENST00000589544:exon9:c.G1418A:p.G473E;ENSG00000101746:ENST00000261592:exon11:c.G1724A:p.G575E;ENSG00000101746:ENST00000269185:exon9:c.G1076A:p.G359E;	0.999190971009221	0.938
18	31433000	C	A	18	33853036	y	y	splicing	NOL4(NM_003787:exon12:c.1724-1G>T;NM_001282527:exon12:c.1067-1G>T;NM_001198548:exon10:c.1418-1G>T;NM_001198547:exon12:c.1502-1G>T;NM_001198546:exon11:c.1532-1G>T;NM_001198549:exon8:c.869-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon12:c.1724-1G>T;ENST00000269185:exon10:c.1076-1G>T;ENST00000535384:exon8:c.869-1G>T;ENST00000535475:exon12:c.1067-1G>T;ENST00000589544:exon10:c.1418-1G>T;ENST00000586314:exon12:c.1351-1G>T;ENST00000590712:exon11:c.1484-1G>T;ENST00000538587:exon12:c.1502-1G>T)	.	.	0.999982737877662	0.938
18	31433000	C	G	18	33853036	y	y	splicing	NOL4(NM_003787:exon12:c.1724-1G>C;NM_001282527:exon12:c.1067-1G>C;NM_001198548:exon10:c.1418-1G>C;NM_001198547:exon12:c.1502-1G>C;NM_001198546:exon11:c.1532-1G>C;NM_001198549:exon8:c.869-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon12:c.1724-1G>C;ENST00000269185:exon10:c.1076-1G>C;ENST00000535384:exon8:c.869-1G>C;ENST00000535475:exon12:c.1067-1G>C;ENST00000589544:exon10:c.1418-1G>C;ENST00000586314:exon12:c.1351-1G>C;ENST00000590712:exon11:c.1484-1G>C;ENST00000538587:exon12:c.1502-1G>C)	.	.	0.999982737877662	0.932
18	31433000	C	T	18	33853036	y	y	splicing	NOL4(NM_003787:exon12:c.1724-1G>A;NM_001282527:exon12:c.1067-1G>A;NM_001198548:exon10:c.1418-1G>A;NM_001198547:exon12:c.1502-1G>A;NM_001198546:exon11:c.1532-1G>A;NM_001198549:exon8:c.869-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon12:c.1724-1G>A;ENST00000269185:exon10:c.1076-1G>A;ENST00000535384:exon8:c.869-1G>A;ENST00000535475:exon12:c.1067-1G>A;ENST00000589544:exon10:c.1418-1G>A;ENST00000586314:exon12:c.1351-1G>A;ENST00000590712:exon11:c.1484-1G>A;ENST00000538587:exon12:c.1502-1G>A)	.	.	0.999986579024421	0.936
18	31433001	T	A	18	33853037	y	y	splicing	NOL4(NM_003787:exon12:c.1724-2A>T;NM_001282527:exon12:c.1067-2A>T;NM_001198548:exon10:c.1418-2A>T;NM_001198547:exon12:c.1502-2A>T;NM_001198546:exon11:c.1532-2A>T;NM_001198549:exon8:c.869-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon12:c.1724-2A>T;ENST00000269185:exon10:c.1076-2A>T;ENST00000535384:exon8:c.869-2A>T;ENST00000535475:exon12:c.1067-2A>T;ENST00000589544:exon10:c.1418-2A>T;ENST00000586314:exon12:c.1351-2A>T;ENST00000590712:exon11:c.1484-2A>T;ENST00000538587:exon12:c.1502-2A>T)	.	.	0.99994568797423	0.928
18	31433001	T	C	18	33853037	y	y	splicing	NOL4(NM_003787:exon12:c.1724-2A>G;NM_001282527:exon12:c.1067-2A>G;NM_001198548:exon10:c.1418-2A>G;NM_001198547:exon12:c.1502-2A>G;NM_001198546:exon11:c.1532-2A>G;NM_001198549:exon8:c.869-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon12:c.1724-2A>G;ENST00000269185:exon10:c.1076-2A>G;ENST00000535384:exon8:c.869-2A>G;ENST00000535475:exon12:c.1067-2A>G;ENST00000589544:exon10:c.1418-2A>G;ENST00000586314:exon12:c.1351-2A>G;ENST00000590712:exon11:c.1484-2A>G;ENST00000538587:exon12:c.1502-2A>G)	.	.	0.99994568797423	0.932
18	31433001	T	G	18	33853037	y	y	splicing	NOL4(NM_003787:exon12:c.1724-2A>C;NM_001282527:exon12:c.1067-2A>C;NM_001198548:exon10:c.1418-2A>C;NM_001198547:exon12:c.1502-2A>C;NM_001198546:exon11:c.1532-2A>C;NM_001198549:exon8:c.869-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon12:c.1724-2A>C;ENST00000269185:exon10:c.1076-2A>C;ENST00000535384:exon8:c.869-2A>C;ENST00000535475:exon12:c.1067-2A>C;ENST00000589544:exon10:c.1418-2A>C;ENST00000586314:exon12:c.1351-2A>C;ENST00000590712:exon11:c.1484-2A>C;ENST00000538587:exon12:c.1502-2A>C)	.	.	0.99994568797423	0.932
18	31433002	A	C	18	33853038	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.869168869844424	0.652
18	31433002	A	G	18	33853038	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.18671720799299E-5	0.038
18	31433002	A	T	18	33853038	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0124635678755836	0.27
18	31433003	G	A	18	33853039	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.44177727541807E-6	0.024
18	31433003	G	C	18	33853039	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.50909444767437E-4	0.092
18	31433003	G	T	18	33853039	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.57238649994619E-5	0.026
18	31433004	A	C	18	33853040	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0114418580119593	0.166
18	31433004	A	G	18	33853040	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.85856077812587E-5	0.0
18	31433004	A	T	18	33853040	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00608835111033569	0.168
18	31433005	A	C	18	33853041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00713334581725428	0.15
18	31433005	A	G	18	33853041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.93195911577594E-5	0.002
18	31433005	A	T	18	33853041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.58850983087415E-4	0.062
18	31433006	A	C	18	33853042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0510965598034056	0.338
18	31433006	A	G	18	33853042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.5739363374279E-4	0.032
18	31433006	A	T	18	33853042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0799300025911988	0.376
18	31433007	G	A	18	33853043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.40328622298533E-5	0.0
18	31433007	G	C	18	33853043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.47081244117758E-4	0.026
18	31433007	G	T	18	33853043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.19204070614265E-4	0.004
18	31433008	A	C	18	33853044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0388004063853772	0.388
18	31433008	A	G	18	33853044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.65678423770169E-5	0.008
18	31433008	A	T	18	33853044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.134211620129674	0.43
18	31433009	A	C	18	33853045	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0342157122551528	0.38
18	31433009	A	G	18	33853045	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.25907869759469E-5	0.06
18	31433009	A	T	18	33853045	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0747903883976734	0.356
18	31433010	A	C	18	33853046	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00698384707726181	0.27
18	31433010	A	G	18	33853046	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.86508209083315E-4	0.06
18	31433010	A	T	18	33853046	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0117100975898593	0.304
18	31433011	A	C	18	33853047	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99935035499622	0.946
18	31433011	A	G	18	33853047	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.48396839582811E-4	0.004
18	31433011	A	T	18	33853047	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0337067098829196	0.454
18	31463200	A	C	18	33883236	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.94347895423994E-5	0.0
18	31463200	A	G	18	33883236	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.67201611572943E-5	0.002
18	31463200	A	T	18	33883236	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.12067126487478E-5	0.002
18	31463201	T	A	18	33883237	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.03257246558187E-5	0.0
18	31463201	T	C	18	33883237	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.80637760320582E-5	0.002
18	31463201	T	G	18	33883237	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.53373032695655E-5	0.006
18	31463202	A	C	18	33883238	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.495967367531007	0.448
18	31463202	A	G	18	33883238	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.420142704597698	0.52
18	31463202	A	T	18	33883238	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.977075321256217	0.602
18	31463203	C	A	18	33883239	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999966450077018	0.98
18	31463203	C	G	18	33883239	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999948150718768	0.96
18	31463203	C	T	18	33883239	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999864010713881	0.944
18	31463204	T	A	18	33883240	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.980172283354954	0.738
18	31463204	T	C	18	33883240	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.97715955126035	0.708
18	31463204	T	G	18	33883240	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.981497805460726	0.772
18	31463205	C	A	18	33883241	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.97851787838123	0.626
18	31463205	C	G	18	33883241	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.980278346571549	0.696
18	31463205	C	T	18	33883241	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.31043811973265E-4	0.006
18	31463206	A	C	18	33883242	y	y	splicing	NOL4(NM_003787:exon11:c.1723+2T>G;NM_001282527:exon11:c.1066+2T>G;NM_001198548:exon9:c.1417+2T>G;NM_001198547:exon11:c.1501+2T>G;NM_001198546:exon10:c.1531+2T>G;NM_001198549:exon7:c.868+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1723+2T>G;ENST00000269185:exon9:c.1075+2T>G;ENST00000535384:exon7:c.868+2T>G;ENST00000535475:exon11:c.1066+2T>G;ENST00000589544:exon9:c.1417+2T>G;ENST00000586314:exon11:c.1350+2T>G;ENST00000590712:exon10:c.1483+2T>G;ENST00000538587:exon11:c.1501+2T>G)	.	.	0.999988247793601	0.926
18	31463206	A	G	18	33883242	y	y	splicing	NOL4(NM_003787:exon11:c.1723+2T>C;NM_001282527:exon11:c.1066+2T>C;NM_001198548:exon9:c.1417+2T>C;NM_001198547:exon11:c.1501+2T>C;NM_001198546:exon10:c.1531+2T>C;NM_001198549:exon7:c.868+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1723+2T>C;ENST00000269185:exon9:c.1075+2T>C;ENST00000535384:exon7:c.868+2T>C;ENST00000535475:exon11:c.1066+2T>C;ENST00000589544:exon9:c.1417+2T>C;ENST00000586314:exon11:c.1350+2T>C;ENST00000590712:exon10:c.1483+2T>C;ENST00000538587:exon11:c.1501+2T>C)	.	.	0.99991520749976	0.866
18	31463206	A	T	18	33883242	y	y	splicing	NOL4(NM_003787:exon11:c.1723+2T>A;NM_001282527:exon11:c.1066+2T>A;NM_001198548:exon9:c.1417+2T>A;NM_001198547:exon11:c.1501+2T>A;NM_001198546:exon10:c.1531+2T>A;NM_001198549:exon7:c.868+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1723+2T>A;ENST00000269185:exon9:c.1075+2T>A;ENST00000535384:exon7:c.868+2T>A;ENST00000535475:exon11:c.1066+2T>A;ENST00000589544:exon9:c.1417+2T>A;ENST00000586314:exon11:c.1350+2T>A;ENST00000590712:exon10:c.1483+2T>A;ENST00000538587:exon11:c.1501+2T>A)	.	.	0.999988247793601	0.926
18	31463207	C	A	18	33883243	y	y	splicing	NOL4(NM_003787:exon11:c.1723+1G>T;NM_001282527:exon11:c.1066+1G>T;NM_001198548:exon9:c.1417+1G>T;NM_001198547:exon11:c.1501+1G>T;NM_001198546:exon10:c.1531+1G>T;NM_001198549:exon7:c.868+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1723+1G>T;ENST00000269185:exon9:c.1075+1G>T;ENST00000535384:exon7:c.868+1G>T;ENST00000535475:exon11:c.1066+1G>T;ENST00000589544:exon9:c.1417+1G>T;ENST00000586314:exon11:c.1350+1G>T;ENST00000590712:exon10:c.1483+1G>T;ENST00000538587:exon11:c.1501+1G>T)	.	.	0.999986675681007	0.93
18	31463207	C	G	18	33883243	y	y	splicing	NOL4(NM_003787:exon11:c.1723+1G>C;NM_001282527:exon11:c.1066+1G>C;NM_001198548:exon9:c.1417+1G>C;NM_001198547:exon11:c.1501+1G>C;NM_001198546:exon10:c.1531+1G>C;NM_001198549:exon7:c.868+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1723+1G>C;ENST00000269185:exon9:c.1075+1G>C;ENST00000535384:exon7:c.868+1G>C;ENST00000535475:exon11:c.1066+1G>C;ENST00000589544:exon9:c.1417+1G>C;ENST00000586314:exon11:c.1350+1G>C;ENST00000590712:exon10:c.1483+1G>C;ENST00000538587:exon11:c.1501+1G>C)	.	.	0.999986675681007	0.93
18	31463207	C	T	18	33883243	y	y	splicing	NOL4(NM_003787:exon11:c.1723+1G>A;NM_001282527:exon11:c.1066+1G>A;NM_001198548:exon9:c.1417+1G>A;NM_001198547:exon11:c.1501+1G>A;NM_001198546:exon10:c.1531+1G>A;NM_001198549:exon7:c.868+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1723+1G>A;ENST00000269185:exon9:c.1075+1G>A;ENST00000535384:exon7:c.868+1G>A;ENST00000535475:exon11:c.1066+1G>A;ENST00000589544:exon9:c.1417+1G>A;ENST00000586314:exon11:c.1350+1G>A;ENST00000590712:exon10:c.1483+1G>A;ENST00000538587:exon11:c.1501+1G>A)	.	.	0.999986675681007	0.93
18	31463208	C	A	18	33883244	y	y	exonic	NOL4	stopgain SNV	NOL4:NM_001198547:exon10:c.G1501T:p.G501X;NOL4:NM_003787:exon10:c.G1723T:p.G575X;NOL4:NM_001282527:exon10:c.G1066T:p.G356X;NOL4:NM_001198549:exon6:c.G868T:p.G290X;NOL4:NM_001198548:exon8:c.G1417T:p.G473X;NOL4:NM_001198546:exon9:c.G1531T:p.G511X;	exonic	ENSG00000101746	stopgain SNV	ENSG00000101746:ENST00000538587:exon10:c.G1501T:p.G501X;ENSG00000101746:ENST00000535384:exon6:c.G868T:p.G290X;ENSG00000101746:ENST00000535475:exon10:c.G1066T:p.G356X;ENSG00000101746:ENST00000590712:exon9:c.G1483T:p.G495X;ENSG00000101746:ENST00000589544:exon8:c.G1417T:p.G473X;ENSG00000101746:ENST00000261592:exon10:c.G1723T:p.G575X;ENSG00000101746:ENST00000269185:exon8:c.G1075T:p.G359X;	0.999969767573256	0.99
18	31463208	C	G	18	33883244	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.G1501C:p.G501R;NOL4:NM_003787:exon10:c.G1723C:p.G575R;NOL4:NM_001282527:exon10:c.G1066C:p.G356R;NOL4:NM_001198549:exon6:c.G868C:p.G290R;NOL4:NM_001198548:exon8:c.G1417C:p.G473R;NOL4:NM_001198546:exon9:c.G1531C:p.G511R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.G1501C:p.G501R;ENSG00000101746:ENST00000535384:exon6:c.G868C:p.G290R;ENSG00000101746:ENST00000535475:exon10:c.G1066C:p.G356R;ENSG00000101746:ENST00000590712:exon9:c.G1483C:p.G495R;ENSG00000101746:ENST00000589544:exon8:c.G1417C:p.G473R;ENSG00000101746:ENST00000261592:exon10:c.G1723C:p.G575R;ENSG00000101746:ENST00000269185:exon8:c.G1075C:p.G359R;	0.99994726192734	0.974
18	31463208	C	T	18	33883244	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.G1501A:p.G501R;NOL4:NM_003787:exon10:c.G1723A:p.G575R;NOL4:NM_001282527:exon10:c.G1066A:p.G356R;NOL4:NM_001198549:exon6:c.G868A:p.G290R;NOL4:NM_001198548:exon8:c.G1417A:p.G473R;NOL4:NM_001198546:exon9:c.G1531A:p.G511R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.G1501A:p.G501R;ENSG00000101746:ENST00000535384:exon6:c.G868A:p.G290R;ENSG00000101746:ENST00000535475:exon10:c.G1066A:p.G356R;ENSG00000101746:ENST00000590712:exon9:c.G1483A:p.G495R;ENSG00000101746:ENST00000589544:exon8:c.G1417A:p.G473R;ENSG00000101746:ENST00000261592:exon10:c.G1723A:p.G575R;ENSG00000101746:ENST00000269185:exon8:c.G1075A:p.G359R;	0.999967490907853	0.954
18	31463209	A	C	18	33883245	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.T1500G:p.S500R;NOL4:NM_003787:exon10:c.T1722G:p.S574R;NOL4:NM_001282527:exon10:c.T1065G:p.S355R;NOL4:NM_001198549:exon6:c.T867G:p.S289R;NOL4:NM_001198548:exon8:c.T1416G:p.S472R;NOL4:NM_001198546:exon9:c.T1530G:p.S510R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.T1500G:p.S500R;ENSG00000101746:ENST00000535384:exon6:c.T867G:p.S289R;ENSG00000101746:ENST00000535475:exon10:c.T1065G:p.S355R;ENSG00000101746:ENST00000590712:exon9:c.T1482G:p.S494R;ENSG00000101746:ENST00000589544:exon8:c.T1416G:p.S472R;ENSG00000101746:ENST00000261592:exon10:c.T1722G:p.S574R;ENSG00000101746:ENST00000269185:exon8:c.T1074G:p.S358R;	0.00466938648054608	0.232
18	31463209	A	G	18	33883245	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon10:c.T1500C:p.S500S;NOL4:NM_003787:exon10:c.T1722C:p.S574S;NOL4:NM_001282527:exon10:c.T1065C:p.S355S;NOL4:NM_001198549:exon6:c.T867C:p.S289S;NOL4:NM_001198548:exon8:c.T1416C:p.S472S;NOL4:NM_001198546:exon9:c.T1530C:p.S510S;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.T1500C:p.S500S;ENSG00000101746:ENST00000535384:exon6:c.T867C:p.S289S;ENSG00000101746:ENST00000535475:exon10:c.T1065C:p.S355S;ENSG00000101746:ENST00000590712:exon9:c.T1482C:p.S494S;ENSG00000101746:ENST00000589544:exon8:c.T1416C:p.S472S;ENSG00000101746:ENST00000261592:exon10:c.T1722C:p.S574S;ENSG00000101746:ENST00000269185:exon8:c.T1074C:p.S358S;	6.55056869418528E-4	0.014
18	31463209	A	T	18	33883245	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.T1500A:p.S500R;NOL4:NM_003787:exon10:c.T1722A:p.S574R;NOL4:NM_001282527:exon10:c.T1065A:p.S355R;NOL4:NM_001198549:exon6:c.T867A:p.S289R;NOL4:NM_001198548:exon8:c.T1416A:p.S472R;NOL4:NM_001198546:exon9:c.T1530A:p.S510R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.T1500A:p.S500R;ENSG00000101746:ENST00000535384:exon6:c.T867A:p.S289R;ENSG00000101746:ENST00000535475:exon10:c.T1065A:p.S355R;ENSG00000101746:ENST00000590712:exon9:c.T1482A:p.S494R;ENSG00000101746:ENST00000589544:exon8:c.T1416A:p.S472R;ENSG00000101746:ENST00000261592:exon10:c.T1722A:p.S574R;ENSG00000101746:ENST00000269185:exon8:c.T1074A:p.S358R;	2.50224255444242E-4	0.358
18	31463210	C	A	18	33883246	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.G1499T:p.S500I;NOL4:NM_003787:exon10:c.G1721T:p.S574I;NOL4:NM_001282527:exon10:c.G1064T:p.S355I;NOL4:NM_001198549:exon6:c.G866T:p.S289I;NOL4:NM_001198548:exon8:c.G1415T:p.S472I;NOL4:NM_001198546:exon9:c.G1529T:p.S510I;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.G1499T:p.S500I;ENSG00000101746:ENST00000535384:exon6:c.G866T:p.S289I;ENSG00000101746:ENST00000535475:exon10:c.G1064T:p.S355I;ENSG00000101746:ENST00000590712:exon9:c.G1481T:p.S494I;ENSG00000101746:ENST00000589544:exon8:c.G1415T:p.S472I;ENSG00000101746:ENST00000261592:exon10:c.G1721T:p.S574I;ENSG00000101746:ENST00000269185:exon8:c.G1073T:p.S358I;	0.994783263203495	0.88
18	31463210	C	G	18	33883246	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.G1499C:p.S500T;NOL4:NM_003787:exon10:c.G1721C:p.S574T;NOL4:NM_001282527:exon10:c.G1064C:p.S355T;NOL4:NM_001198549:exon6:c.G866C:p.S289T;NOL4:NM_001198548:exon8:c.G1415C:p.S472T;NOL4:NM_001198546:exon9:c.G1529C:p.S510T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.G1499C:p.S500T;ENSG00000101746:ENST00000535384:exon6:c.G866C:p.S289T;ENSG00000101746:ENST00000535475:exon10:c.G1064C:p.S355T;ENSG00000101746:ENST00000590712:exon9:c.G1481C:p.S494T;ENSG00000101746:ENST00000589544:exon8:c.G1415C:p.S472T;ENSG00000101746:ENST00000261592:exon10:c.G1721C:p.S574T;ENSG00000101746:ENST00000269185:exon8:c.G1073C:p.S358T;	0.923915297918828	0.698
18	31463210	C	T	18	33883246	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.G1499A:p.S500N;NOL4:NM_003787:exon10:c.G1721A:p.S574N;NOL4:NM_001282527:exon10:c.G1064A:p.S355N;NOL4:NM_001198549:exon6:c.G866A:p.S289N;NOL4:NM_001198548:exon8:c.G1415A:p.S472N;NOL4:NM_001198546:exon9:c.G1529A:p.S510N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.G1499A:p.S500N;ENSG00000101746:ENST00000535384:exon6:c.G866A:p.S289N;ENSG00000101746:ENST00000535475:exon10:c.G1064A:p.S355N;ENSG00000101746:ENST00000590712:exon9:c.G1481A:p.S494N;ENSG00000101746:ENST00000589544:exon8:c.G1415A:p.S472N;ENSG00000101746:ENST00000261592:exon10:c.G1721A:p.S574N;ENSG00000101746:ENST00000269185:exon8:c.G1073A:p.S358N;	6.72420743063486E-4	0.022
18	31463387	T	A	18	33883423	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.A1322T:p.D441V;NOL4:NM_003787:exon10:c.A1544T:p.D515V;NOL4:NM_001282527:exon10:c.A887T:p.D296V;NOL4:NM_001198549:exon6:c.A689T:p.D230V;NOL4:NM_001198548:exon8:c.A1238T:p.D413V;NOL4:NM_001198546:exon9:c.A1352T:p.D451V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.A1322T:p.D441V;ENSG00000101746:ENST00000535384:exon6:c.A689T:p.D230V;ENSG00000101746:ENST00000535475:exon10:c.A887T:p.D296V;ENSG00000101746:ENST00000590712:exon9:c.A1304T:p.D435V;ENSG00000101746:ENST00000589544:exon8:c.A1238T:p.D413V;ENSG00000101746:ENST00000261592:exon10:c.A1544T:p.D515V;ENSG00000101746:ENST00000586553:exon5:c.A599T:p.D200V;ENSG00000101746:ENST00000269185:exon8:c.A896T:p.D299V;	0.756508754573935	0.744
18	31463387	T	C	18	33883423	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.A1322G:p.D441G;NOL4:NM_003787:exon10:c.A1544G:p.D515G;NOL4:NM_001282527:exon10:c.A887G:p.D296G;NOL4:NM_001198549:exon6:c.A689G:p.D230G;NOL4:NM_001198548:exon8:c.A1238G:p.D413G;NOL4:NM_001198546:exon9:c.A1352G:p.D451G;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.A1322G:p.D441G;ENSG00000101746:ENST00000535384:exon6:c.A689G:p.D230G;ENSG00000101746:ENST00000535475:exon10:c.A887G:p.D296G;ENSG00000101746:ENST00000590712:exon9:c.A1304G:p.D435G;ENSG00000101746:ENST00000589544:exon8:c.A1238G:p.D413G;ENSG00000101746:ENST00000261592:exon10:c.A1544G:p.D515G;ENSG00000101746:ENST00000586553:exon5:c.A599G:p.D200G;ENSG00000101746:ENST00000269185:exon8:c.A896G:p.D299G;	0.702675434311052	0.546
18	31463387	T	G	18	33883423	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.A1322C:p.D441A;NOL4:NM_003787:exon10:c.A1544C:p.D515A;NOL4:NM_001282527:exon10:c.A887C:p.D296A;NOL4:NM_001198549:exon6:c.A689C:p.D230A;NOL4:NM_001198548:exon8:c.A1238C:p.D413A;NOL4:NM_001198546:exon9:c.A1352C:p.D451A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.A1322C:p.D441A;ENSG00000101746:ENST00000535384:exon6:c.A689C:p.D230A;ENSG00000101746:ENST00000535475:exon10:c.A887C:p.D296A;ENSG00000101746:ENST00000590712:exon9:c.A1304C:p.D435A;ENSG00000101746:ENST00000589544:exon8:c.A1238C:p.D413A;ENSG00000101746:ENST00000261592:exon10:c.A1544C:p.D515A;ENSG00000101746:ENST00000586553:exon5:c.A599C:p.D200A;ENSG00000101746:ENST00000269185:exon8:c.A896C:p.D299A;	0.799642127461388	0.62
18	31463388	C	A	18	33883424	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.G1321T:p.D441Y;NOL4:NM_003787:exon10:c.G1543T:p.D515Y;NOL4:NM_001282527:exon10:c.G886T:p.D296Y;NOL4:NM_001198549:exon6:c.G688T:p.D230Y;NOL4:NM_001198548:exon8:c.G1237T:p.D413Y;NOL4:NM_001198546:exon9:c.G1351T:p.D451Y;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.G1321T:p.D441Y;ENSG00000101746:ENST00000535384:exon6:c.G688T:p.D230Y;ENSG00000101746:ENST00000535475:exon10:c.G886T:p.D296Y;ENSG00000101746:ENST00000590712:exon9:c.G1303T:p.D435Y;ENSG00000101746:ENST00000589544:exon8:c.G1237T:p.D413Y;ENSG00000101746:ENST00000261592:exon10:c.G1543T:p.D515Y;ENSG00000101746:ENST00000586553:exon5:c.G598T:p.D200Y;ENSG00000101746:ENST00000269185:exon8:c.G895T:p.D299Y;	0.999349706231224	0.968
18	31463388	C	G	18	33883424	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.G1321C:p.D441H;NOL4:NM_003787:exon10:c.G1543C:p.D515H;NOL4:NM_001282527:exon10:c.G886C:p.D296H;NOL4:NM_001198549:exon6:c.G688C:p.D230H;NOL4:NM_001198548:exon8:c.G1237C:p.D413H;NOL4:NM_001198546:exon9:c.G1351C:p.D451H;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.G1321C:p.D441H;ENSG00000101746:ENST00000535384:exon6:c.G688C:p.D230H;ENSG00000101746:ENST00000535475:exon10:c.G886C:p.D296H;ENSG00000101746:ENST00000590712:exon9:c.G1303C:p.D435H;ENSG00000101746:ENST00000589544:exon8:c.G1237C:p.D413H;ENSG00000101746:ENST00000261592:exon10:c.G1543C:p.D515H;ENSG00000101746:ENST00000586553:exon5:c.G598C:p.D200H;ENSG00000101746:ENST00000269185:exon8:c.G895C:p.D299H;	0.99978958807816	0.974
18	31463388	C	T	18	33883424	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon10:c.G1321A:p.D441N;NOL4:NM_003787:exon10:c.G1543A:p.D515N;NOL4:NM_001282527:exon10:c.G886A:p.D296N;NOL4:NM_001198549:exon6:c.G688A:p.D230N;NOL4:NM_001198548:exon8:c.G1237A:p.D413N;NOL4:NM_001198546:exon9:c.G1351A:p.D451N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon10:c.G1321A:p.D441N;ENSG00000101746:ENST00000535384:exon6:c.G688A:p.D230N;ENSG00000101746:ENST00000535475:exon10:c.G886A:p.D296N;ENSG00000101746:ENST00000590712:exon9:c.G1303A:p.D435N;ENSG00000101746:ENST00000589544:exon8:c.G1237A:p.D413N;ENSG00000101746:ENST00000261592:exon10:c.G1543A:p.D515N;ENSG00000101746:ENST00000586553:exon5:c.G598A:p.D200N;ENSG00000101746:ENST00000269185:exon8:c.G895A:p.D299N;	0.998728769411927	0.83
18	31463389	C	A	18	33883425	y	y	splicing	NOL4(NM_003787:exon11:c.1543-1G>T;NM_001282527:exon11:c.886-1G>T;NM_001198548:exon9:c.1237-1G>T;NM_001198547:exon11:c.1321-1G>T;NM_001198546:exon10:c.1351-1G>T;NM_001198549:exon7:c.688-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1543-1G>T;ENST00000269185:exon9:c.895-1G>T;ENST00000535384:exon7:c.688-1G>T;ENST00000535475:exon11:c.886-1G>T;ENST00000589544:exon9:c.1237-1G>T;ENST00000586314:exon11:c.1170-1G>T;ENST00000590712:exon10:c.1303-1G>T;ENST00000538587:exon11:c.1321-1G>T;ENST00000586553:exon6:c.598-1G>T)	.	.	0.999989072007339	0.934
18	31463389	C	G	18	33883425	y	y	splicing	NOL4(NM_003787:exon11:c.1543-1G>C;NM_001282527:exon11:c.886-1G>C;NM_001198548:exon9:c.1237-1G>C;NM_001198547:exon11:c.1321-1G>C;NM_001198546:exon10:c.1351-1G>C;NM_001198549:exon7:c.688-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1543-1G>C;ENST00000269185:exon9:c.895-1G>C;ENST00000535384:exon7:c.688-1G>C;ENST00000535475:exon11:c.886-1G>C;ENST00000589544:exon9:c.1237-1G>C;ENST00000586314:exon11:c.1170-1G>C;ENST00000590712:exon10:c.1303-1G>C;ENST00000538587:exon11:c.1321-1G>C;ENST00000586553:exon6:c.598-1G>C)	.	.	0.999989072007339	0.934
18	31463389	C	T	18	33883425	y	y	splicing	NOL4(NM_003787:exon11:c.1543-1G>A;NM_001282527:exon11:c.886-1G>A;NM_001198548:exon9:c.1237-1G>A;NM_001198547:exon11:c.1321-1G>A;NM_001198546:exon10:c.1351-1G>A;NM_001198549:exon7:c.688-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1543-1G>A;ENST00000269185:exon9:c.895-1G>A;ENST00000535384:exon7:c.688-1G>A;ENST00000535475:exon11:c.886-1G>A;ENST00000589544:exon9:c.1237-1G>A;ENST00000586314:exon11:c.1170-1G>A;ENST00000590712:exon10:c.1303-1G>A;ENST00000538587:exon11:c.1321-1G>A;ENST00000586553:exon6:c.598-1G>A)	.	.	0.999989072007339	0.934
18	31463390	T	A	18	33883426	y	y	splicing	NOL4(NM_003787:exon11:c.1543-2A>T;NM_001282527:exon11:c.886-2A>T;NM_001198548:exon9:c.1237-2A>T;NM_001198547:exon11:c.1321-2A>T;NM_001198546:exon10:c.1351-2A>T;NM_001198549:exon7:c.688-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1543-2A>T;ENST00000269185:exon9:c.895-2A>T;ENST00000535384:exon7:c.688-2A>T;ENST00000535475:exon11:c.886-2A>T;ENST00000589544:exon9:c.1237-2A>T;ENST00000586314:exon11:c.1170-2A>T;ENST00000590712:exon10:c.1303-2A>T;ENST00000538587:exon11:c.1321-2A>T;ENST00000586553:exon6:c.598-2A>T)	.	.	0.999988247793601	0.93
18	31463390	T	C	18	33883426	y	y	splicing	NOL4(NM_003787:exon11:c.1543-2A>G;NM_001282527:exon11:c.886-2A>G;NM_001198548:exon9:c.1237-2A>G;NM_001198547:exon11:c.1321-2A>G;NM_001198546:exon10:c.1351-2A>G;NM_001198549:exon7:c.688-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1543-2A>G;ENST00000269185:exon9:c.895-2A>G;ENST00000535384:exon7:c.688-2A>G;ENST00000535475:exon11:c.886-2A>G;ENST00000589544:exon9:c.1237-2A>G;ENST00000586314:exon11:c.1170-2A>G;ENST00000590712:exon10:c.1303-2A>G;ENST00000538587:exon11:c.1321-2A>G;ENST00000586553:exon6:c.598-2A>G)	.	.	0.999988247793601	0.93
18	31463390	T	G	18	33883426	y	y	splicing	NOL4(NM_003787:exon11:c.1543-2A>C;NM_001282527:exon11:c.886-2A>C;NM_001198548:exon9:c.1237-2A>C;NM_001198547:exon11:c.1321-2A>C;NM_001198546:exon10:c.1351-2A>C;NM_001198549:exon7:c.688-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon11:c.1543-2A>C;ENST00000269185:exon9:c.895-2A>C;ENST00000535384:exon7:c.688-2A>C;ENST00000535475:exon11:c.886-2A>C;ENST00000589544:exon9:c.1237-2A>C;ENST00000586314:exon11:c.1170-2A>C;ENST00000590712:exon10:c.1303-2A>C;ENST00000538587:exon11:c.1321-2A>C;ENST00000586553:exon6:c.598-2A>C)	.	.	0.999988247793601	0.93
18	31463391	G	A	18	33883427	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.137470634841284	0.174
18	31463391	G	C	18	33883427	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999601907679373	0.886
18	31463391	G	T	18	33883427	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.961521378641703	0.794
18	31463392	C	A	18	33883428	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0118561832002767	0.074
18	31463392	C	G	18	33883428	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0194361542806034	0.076
18	31463392	C	T	18	33883428	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0126588241132137	0.066
18	31463393	A	C	18	33883429	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.915777706376545	0.736
18	31463393	A	G	18	33883429	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0227805907544681	0.158
18	31463393	A	T	18	33883429	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998040346656688	0.884
18	31463394	A	C	18	33883430	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.943930050417882	0.668
18	31463394	A	G	18	33883430	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00163621489169155	0.028
18	31463394	A	T	18	33883430	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.853125839747319	0.658
18	31463395	G	A	18	33883431	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.76551190248896E-5	0.0
18	31463395	G	C	18	33883431	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.46156488398979E-4	0.016
18	31463395	G	T	18	33883431	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.29600170497237E-4	0.032
18	31463396	G	A	18	33883432	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.10733788186642E-4	0.01
18	31463396	G	C	18	33883432	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00461212975488928	0.134
18	31463396	G	T	18	33883432	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00959559129066613	0.132
18	31463397	A	C	18	33883433	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.991557582845264	0.866
18	31463397	A	G	18	33883433	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.118486900461463	0.342
18	31463397	A	T	18	33883433	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99523806321359	0.874
18	31463398	C	A	18	33883434	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.03898446218432E-5	0.0
18	31463398	C	G	18	33883434	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.21325972704485E-5	0.006
18	31463398	C	T	18	33883434	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.10873432286472E-4	0.02
18	31463399	A	C	18	33883435	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998772898927548	0.862
18	31463399	A	G	18	33883435	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.886365805081004	0.414
18	31463399	A	T	18	33883435	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999976508892037	0.958
18	31463400	G	A	18	33883436	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.22398755213212E-4	0.004
18	31463400	G	C	18	33883436	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.15274603874328E-4	0.032
18	31463400	G	T	18	33883436	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.002561442727467	0.068
18	31523021	C	A	18	33943057	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00605548829041096	0.076
18	31523021	C	G	18	33943057	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0150106248805826	0.08
18	31523021	C	T	18	33943057	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0425547803509898	0.082
18	31523022	T	A	18	33943058	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.40883411930397E-4	0.004
18	31523022	T	C	18	33943058	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.26275180672977E-4	0.004
18	31523022	T	G	18	33943058	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.26275180672977E-4	0.004
18	31523023	C	A	18	33943059	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.57267462290215E-5	0.032
18	31523023	C	G	18	33943059	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00192617260511515	0.086
18	31523023	C	T	18	33943059	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.3252933859358E-4	0.074
18	31523024	A	C	18	33943060	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.3483963663333E-5	0.062
18	31523024	A	G	18	33943060	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.08126929890604E-4	0.016
18	31523024	A	T	18	33943060	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.53131034802089E-4	0.012
18	31523025	G	A	18	33943061	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0269001390535257	0.164
18	31523025	G	C	18	33943061	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0122788062096616	0.124
18	31523025	G	T	18	33943061	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.84397361689054E-4	0.062
18	31523026	T	A	18	33943062	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999935575207215	0.976
18	31523026	T	C	18	33943062	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998764331011937	0.958
18	31523026	T	G	18	33943062	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999920419323974	0.938
18	31523027	A	C	18	33943063	y	y	splicing	NOL4(NM_003787:exon10:c.1542+2T>G;NM_001282527:exon10:c.885+2T>G;NM_001198547:exon10:c.1320+2T>G;NM_001198546:exon9:c.1350+2T>G;NM_001198549:exon6:c.687+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1542+2T>G;ENST00000535384:exon6:c.687+2T>G;ENST00000535475:exon10:c.885+2T>G;ENST00000586314:exon10:c.1169+2T>G;ENST00000590712:exon9:c.1302+2T>G;ENST00000538587:exon10:c.1320+2T>G;ENST00000586553:exon5:c.597+2T>G)	.	.	0.999988247793601	0.932
18	31523027	A	G	18	33943063	y	y	splicing	NOL4(NM_003787:exon10:c.1542+2T>C;NM_001282527:exon10:c.885+2T>C;NM_001198547:exon10:c.1320+2T>C;NM_001198546:exon9:c.1350+2T>C;NM_001198549:exon6:c.687+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1542+2T>C;ENST00000535384:exon6:c.687+2T>C;ENST00000535475:exon10:c.885+2T>C;ENST00000586314:exon10:c.1169+2T>C;ENST00000590712:exon9:c.1302+2T>C;ENST00000538587:exon10:c.1320+2T>C;ENST00000586553:exon5:c.597+2T>C)	.	.	0.98918007292081	0.68
18	31523027	A	T	18	33943063	y	y	splicing	NOL4(NM_003787:exon10:c.1542+2T>A;NM_001282527:exon10:c.885+2T>A;NM_001198547:exon10:c.1320+2T>A;NM_001198546:exon9:c.1350+2T>A;NM_001198549:exon6:c.687+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1542+2T>A;ENST00000535384:exon6:c.687+2T>A;ENST00000535475:exon10:c.885+2T>A;ENST00000586314:exon10:c.1169+2T>A;ENST00000590712:exon9:c.1302+2T>A;ENST00000538587:exon10:c.1320+2T>A;ENST00000586553:exon5:c.597+2T>A)	.	.	0.999988247793601	0.932
18	31523028	C	A	18	33943064	y	y	splicing	NOL4(NM_003787:exon10:c.1542+1G>T;NM_001282527:exon10:c.885+1G>T;NM_001198547:exon10:c.1320+1G>T;NM_001198546:exon9:c.1350+1G>T;NM_001198549:exon6:c.687+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1542+1G>T;ENST00000535384:exon6:c.687+1G>T;ENST00000535475:exon10:c.885+1G>T;ENST00000586314:exon10:c.1169+1G>T;ENST00000590712:exon9:c.1302+1G>T;ENST00000538587:exon10:c.1320+1G>T;ENST00000586553:exon5:c.597+1G>T)	.	.	0.999990361384395	0.938
18	31523028	C	G	18	33943064	y	y	splicing	NOL4(NM_003787:exon10:c.1542+1G>C;NM_001282527:exon10:c.885+1G>C;NM_001198547:exon10:c.1320+1G>C;NM_001198546:exon9:c.1350+1G>C;NM_001198549:exon6:c.687+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1542+1G>C;ENST00000535384:exon6:c.687+1G>C;ENST00000535475:exon10:c.885+1G>C;ENST00000586314:exon10:c.1169+1G>C;ENST00000590712:exon9:c.1302+1G>C;ENST00000538587:exon10:c.1320+1G>C;ENST00000586553:exon5:c.597+1G>C)	.	.	0.999990361384395	0.938
18	31523028	C	T	18	33943064	y	y	splicing	NOL4(NM_003787:exon10:c.1542+1G>A;NM_001282527:exon10:c.885+1G>A;NM_001198547:exon10:c.1320+1G>A;NM_001198546:exon9:c.1350+1G>A;NM_001198549:exon6:c.687+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1542+1G>A;ENST00000535384:exon6:c.687+1G>A;ENST00000535475:exon10:c.885+1G>A;ENST00000586314:exon10:c.1169+1G>A;ENST00000590712:exon9:c.1302+1G>A;ENST00000538587:exon10:c.1320+1G>A;ENST00000586553:exon5:c.597+1G>A)	.	.	0.999990361384395	0.938
18	31523029	C	A	18	33943065	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.G1320T:p.Q440H;NOL4:NM_003787:exon9:c.G1542T:p.Q514H;NOL4:NM_001282527:exon9:c.G885T:p.Q295H;NOL4:NM_001198549:exon5:c.G687T:p.Q229H;NOL4:NM_001198546:exon8:c.G1350T:p.Q450H;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.G1320T:p.Q440H;ENSG00000101746:ENST00000535384:exon5:c.G687T:p.Q229H;ENSG00000101746:ENST00000535475:exon9:c.G885T:p.Q295H;ENSG00000101746:ENST00000590712:exon8:c.G1302T:p.Q434H;ENSG00000101746:ENST00000261592:exon9:c.G1542T:p.Q514H;ENSG00000101746:ENST00000586553:exon4:c.G597T:p.Q199H;	0.999995009246243	1.0
18	31523029	C	G	18	33943065	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.G1320C:p.Q440H;NOL4:NM_003787:exon9:c.G1542C:p.Q514H;NOL4:NM_001282527:exon9:c.G885C:p.Q295H;NOL4:NM_001198549:exon5:c.G687C:p.Q229H;NOL4:NM_001198546:exon8:c.G1350C:p.Q450H;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.G1320C:p.Q440H;ENSG00000101746:ENST00000535384:exon5:c.G687C:p.Q229H;ENSG00000101746:ENST00000535475:exon9:c.G885C:p.Q295H;ENSG00000101746:ENST00000590712:exon8:c.G1302C:p.Q434H;ENSG00000101746:ENST00000261592:exon9:c.G1542C:p.Q514H;ENSG00000101746:ENST00000586553:exon4:c.G597C:p.Q199H;	0.999996687773079	1.0
18	31523029	C	T	18	33943065	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon9:c.G1320A:p.Q440Q;NOL4:NM_003787:exon9:c.G1542A:p.Q514Q;NOL4:NM_001282527:exon9:c.G885A:p.Q295Q;NOL4:NM_001198549:exon5:c.G687A:p.Q229Q;NOL4:NM_001198546:exon8:c.G1350A:p.Q450Q;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.G1320A:p.Q440Q;ENSG00000101746:ENST00000535384:exon5:c.G687A:p.Q229Q;ENSG00000101746:ENST00000535475:exon9:c.G885A:p.Q295Q;ENSG00000101746:ENST00000590712:exon8:c.G1302A:p.Q434Q;ENSG00000101746:ENST00000261592:exon9:c.G1542A:p.Q514Q;ENSG00000101746:ENST00000586553:exon4:c.G597A:p.Q199Q;	0.999982354055728	0.998
18	31523030	T	A	18	33943066	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.A1319T:p.Q440L;NOL4:NM_003787:exon9:c.A1541T:p.Q514L;NOL4:NM_001282527:exon9:c.A884T:p.Q295L;NOL4:NM_001198549:exon5:c.A686T:p.Q229L;NOL4:NM_001198546:exon8:c.A1349T:p.Q450L;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.A1319T:p.Q440L;ENSG00000101746:ENST00000535384:exon5:c.A686T:p.Q229L;ENSG00000101746:ENST00000535475:exon9:c.A884T:p.Q295L;ENSG00000101746:ENST00000590712:exon8:c.A1301T:p.Q434L;ENSG00000101746:ENST00000261592:exon9:c.A1541T:p.Q514L;ENSG00000101746:ENST00000586553:exon4:c.A596T:p.Q199L;	0.999950039244928	1.0
18	31523030	T	C	18	33943066	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.A1319G:p.Q440R;NOL4:NM_003787:exon9:c.A1541G:p.Q514R;NOL4:NM_001282527:exon9:c.A884G:p.Q295R;NOL4:NM_001198549:exon5:c.A686G:p.Q229R;NOL4:NM_001198546:exon8:c.A1349G:p.Q450R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.A1319G:p.Q440R;ENSG00000101746:ENST00000535384:exon5:c.A686G:p.Q229R;ENSG00000101746:ENST00000535475:exon9:c.A884G:p.Q295R;ENSG00000101746:ENST00000590712:exon8:c.A1301G:p.Q434R;ENSG00000101746:ENST00000261592:exon9:c.A1541G:p.Q514R;ENSG00000101746:ENST00000586553:exon4:c.A596G:p.Q199R;	0.999926607711389	0.996
18	31523030	T	G	18	33943066	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.A1319C:p.Q440P;NOL4:NM_003787:exon9:c.A1541C:p.Q514P;NOL4:NM_001282527:exon9:c.A884C:p.Q295P;NOL4:NM_001198549:exon5:c.A686C:p.Q229P;NOL4:NM_001198546:exon8:c.A1349C:p.Q450P;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.A1319C:p.Q440P;ENSG00000101746:ENST00000535384:exon5:c.A686C:p.Q229P;ENSG00000101746:ENST00000535475:exon9:c.A884C:p.Q295P;ENSG00000101746:ENST00000590712:exon8:c.A1301C:p.Q434P;ENSG00000101746:ENST00000261592:exon9:c.A1541C:p.Q514P;ENSG00000101746:ENST00000586553:exon4:c.A596C:p.Q199P;	0.999733518846487	0.994
18	31523031	G	A	18	33943067	y	y	exonic	NOL4	stopgain SNV	NOL4:NM_001198547:exon9:c.C1318T:p.Q440X;NOL4:NM_003787:exon9:c.C1540T:p.Q514X;NOL4:NM_001282527:exon9:c.C883T:p.Q295X;NOL4:NM_001198549:exon5:c.C685T:p.Q229X;NOL4:NM_001198546:exon8:c.C1348T:p.Q450X;	exonic	ENSG00000101746	stopgain SNV	ENSG00000101746:ENST00000538587:exon9:c.C1318T:p.Q440X;ENSG00000101746:ENST00000535384:exon5:c.C685T:p.Q229X;ENSG00000101746:ENST00000535475:exon9:c.C883T:p.Q295X;ENSG00000101746:ENST00000590712:exon8:c.C1300T:p.Q434X;ENSG00000101746:ENST00000261592:exon9:c.C1540T:p.Q514X;ENSG00000101746:ENST00000586553:exon4:c.C595T:p.Q199X;	0.999901430691206	0.986
18	31523031	G	C	18	33943067	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.C1318G:p.Q440E;NOL4:NM_003787:exon9:c.C1540G:p.Q514E;NOL4:NM_001282527:exon9:c.C883G:p.Q295E;NOL4:NM_001198549:exon5:c.C685G:p.Q229E;NOL4:NM_001198546:exon8:c.C1348G:p.Q450E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.C1318G:p.Q440E;ENSG00000101746:ENST00000535384:exon5:c.C685G:p.Q229E;ENSG00000101746:ENST00000535475:exon9:c.C883G:p.Q295E;ENSG00000101746:ENST00000590712:exon8:c.C1300G:p.Q434E;ENSG00000101746:ENST00000261592:exon9:c.C1540G:p.Q514E;ENSG00000101746:ENST00000586553:exon4:c.C595G:p.Q199E;	0.992385048936494	0.684
18	31523031	G	T	18	33943067	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.C1318A:p.Q440K;NOL4:NM_003787:exon9:c.C1540A:p.Q514K;NOL4:NM_001282527:exon9:c.C883A:p.Q295K;NOL4:NM_001198549:exon5:c.C685A:p.Q229K;NOL4:NM_001198546:exon8:c.C1348A:p.Q450K;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.C1318A:p.Q440K;ENSG00000101746:ENST00000535384:exon5:c.C685A:p.Q229K;ENSG00000101746:ENST00000535475:exon9:c.C883A:p.Q295K;ENSG00000101746:ENST00000590712:exon8:c.C1300A:p.Q434K;ENSG00000101746:ENST00000261592:exon9:c.C1540A:p.Q514K;ENSG00000101746:ENST00000586553:exon4:c.C595A:p.Q199K;	0.975138521057669	0.676
18	31523141	G	A	18	33943177	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.C1208T:p.S403F;NOL4:NM_003787:exon9:c.C1430T:p.S477F;NOL4:NM_001282527:exon9:c.C773T:p.S258F;NOL4:NM_001198549:exon5:c.C575T:p.S192F;NOL4:NM_001198546:exon8:c.C1238T:p.S413F;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.C1208T:p.S403F;ENSG00000101746:ENST00000535384:exon5:c.C575T:p.S192F;ENSG00000101746:ENST00000535475:exon9:c.C773T:p.S258F;ENSG00000101746:ENST00000590712:exon8:c.C1190T:p.S397F;ENSG00000101746:ENST00000261592:exon9:c.C1430T:p.S477F;ENSG00000101746:ENST00000586553:exon4:c.C485T:p.S162F;	0.980850544964001	0.818
18	31523141	G	C	18	33943177	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.C1208G:p.S403C;NOL4:NM_003787:exon9:c.C1430G:p.S477C;NOL4:NM_001282527:exon9:c.C773G:p.S258C;NOL4:NM_001198549:exon5:c.C575G:p.S192C;NOL4:NM_001198546:exon8:c.C1238G:p.S413C;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.C1208G:p.S403C;ENSG00000101746:ENST00000535384:exon5:c.C575G:p.S192C;ENSG00000101746:ENST00000535475:exon9:c.C773G:p.S258C;ENSG00000101746:ENST00000590712:exon8:c.C1190G:p.S397C;ENSG00000101746:ENST00000261592:exon9:c.C1430G:p.S477C;ENSG00000101746:ENST00000586553:exon4:c.C485G:p.S162C;	0.985402641659198	0.666
18	31523141	G	T	18	33943177	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.C1208A:p.S403Y;NOL4:NM_003787:exon9:c.C1430A:p.S477Y;NOL4:NM_001282527:exon9:c.C773A:p.S258Y;NOL4:NM_001198549:exon5:c.C575A:p.S192Y;NOL4:NM_001198546:exon8:c.C1238A:p.S413Y;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.C1208A:p.S403Y;ENSG00000101746:ENST00000535384:exon5:c.C575A:p.S192Y;ENSG00000101746:ENST00000535475:exon9:c.C773A:p.S258Y;ENSG00000101746:ENST00000590712:exon8:c.C1190A:p.S397Y;ENSG00000101746:ENST00000261592:exon9:c.C1430A:p.S477Y;ENSG00000101746:ENST00000586553:exon4:c.C485A:p.S162Y;	0.995876797705294	0.77
18	31523142	A	C	18	33943178	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.T1207G:p.S403A;NOL4:NM_003787:exon9:c.T1429G:p.S477A;NOL4:NM_001282527:exon9:c.T772G:p.S258A;NOL4:NM_001198549:exon5:c.T574G:p.S192A;NOL4:NM_001198546:exon8:c.T1237G:p.S413A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.T1207G:p.S403A;ENSG00000101746:ENST00000535384:exon5:c.T574G:p.S192A;ENSG00000101746:ENST00000535475:exon9:c.T772G:p.S258A;ENSG00000101746:ENST00000590712:exon8:c.T1189G:p.S397A;ENSG00000101746:ENST00000261592:exon9:c.T1429G:p.S477A;ENSG00000101746:ENST00000586553:exon4:c.T484G:p.S162A;	0.273305602668947	0.392
18	31523142	A	G	18	33943178	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.T1207C:p.S403P;NOL4:NM_003787:exon9:c.T1429C:p.S477P;NOL4:NM_001282527:exon9:c.T772C:p.S258P;NOL4:NM_001198549:exon5:c.T574C:p.S192P;NOL4:NM_001198546:exon8:c.T1237C:p.S413P;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.T1207C:p.S403P;ENSG00000101746:ENST00000535384:exon5:c.T574C:p.S192P;ENSG00000101746:ENST00000535475:exon9:c.T772C:p.S258P;ENSG00000101746:ENST00000590712:exon8:c.T1189C:p.S397P;ENSG00000101746:ENST00000261592:exon9:c.T1429C:p.S477P;ENSG00000101746:ENST00000586553:exon4:c.T484C:p.S162P;	0.926653880731966	0.68
18	31523142	A	T	18	33943178	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon9:c.T1207A:p.S403T;NOL4:NM_003787:exon9:c.T1429A:p.S477T;NOL4:NM_001282527:exon9:c.T772A:p.S258T;NOL4:NM_001198549:exon5:c.T574A:p.S192T;NOL4:NM_001198546:exon8:c.T1237A:p.S413T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon9:c.T1207A:p.S403T;ENSG00000101746:ENST00000535384:exon5:c.T574A:p.S192T;ENSG00000101746:ENST00000535475:exon9:c.T772A:p.S258T;ENSG00000101746:ENST00000590712:exon8:c.T1189A:p.S397T;ENSG00000101746:ENST00000261592:exon9:c.T1429A:p.S477T;ENSG00000101746:ENST00000586553:exon4:c.T484A:p.S162T;	3.76453557336334E-4	0.022
18	31523143	C	A	18	33943179	y	y	splicing	NOL4(NM_003787:exon10:c.1429-1G>T;NM_001282527:exon10:c.772-1G>T;NM_001198547:exon10:c.1207-1G>T;NM_001198546:exon9:c.1237-1G>T;NM_001198549:exon6:c.574-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1429-1G>T;ENST00000535384:exon6:c.574-1G>T;ENST00000535475:exon10:c.772-1G>T;ENST00000586314:exon10:c.1056-1G>T;ENST00000590712:exon9:c.1189-1G>T;ENST00000538587:exon10:c.1207-1G>T;ENST00000586553:exon5:c.484-1G>T)	.	.	0.999990361384395	0.938
18	31523143	C	G	18	33943179	y	y	splicing	NOL4(NM_003787:exon10:c.1429-1G>C;NM_001282527:exon10:c.772-1G>C;NM_001198547:exon10:c.1207-1G>C;NM_001198546:exon9:c.1237-1G>C;NM_001198549:exon6:c.574-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1429-1G>C;ENST00000535384:exon6:c.574-1G>C;ENST00000535475:exon10:c.772-1G>C;ENST00000586314:exon10:c.1056-1G>C;ENST00000590712:exon9:c.1189-1G>C;ENST00000538587:exon10:c.1207-1G>C;ENST00000586553:exon5:c.484-1G>C)	.	.	0.999990361384395	0.938
18	31523143	C	T	18	33943179	y	y	splicing	NOL4(NM_003787:exon10:c.1429-1G>A;NM_001282527:exon10:c.772-1G>A;NM_001198547:exon10:c.1207-1G>A;NM_001198546:exon9:c.1237-1G>A;NM_001198549:exon6:c.574-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1429-1G>A;ENST00000535384:exon6:c.574-1G>A;ENST00000535475:exon10:c.772-1G>A;ENST00000586314:exon10:c.1056-1G>A;ENST00000590712:exon9:c.1189-1G>A;ENST00000538587:exon10:c.1207-1G>A;ENST00000586553:exon5:c.484-1G>A)	.	.	0.999990361384395	0.938
18	31523144	T	A	18	33943180	y	y	splicing	NOL4(NM_003787:exon10:c.1429-2A>T;NM_001282527:exon10:c.772-2A>T;NM_001198547:exon10:c.1207-2A>T;NM_001198546:exon9:c.1237-2A>T;NM_001198549:exon6:c.574-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1429-2A>T;ENST00000535384:exon6:c.574-2A>T;ENST00000535475:exon10:c.772-2A>T;ENST00000586314:exon10:c.1056-2A>T;ENST00000590712:exon9:c.1189-2A>T;ENST00000538587:exon10:c.1207-2A>T;ENST00000586553:exon5:c.484-2A>T)	.	.	0.999988247793601	0.932
18	31523144	T	C	18	33943180	y	y	splicing	NOL4(NM_003787:exon10:c.1429-2A>G;NM_001282527:exon10:c.772-2A>G;NM_001198547:exon10:c.1207-2A>G;NM_001198546:exon9:c.1237-2A>G;NM_001198549:exon6:c.574-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1429-2A>G;ENST00000535384:exon6:c.574-2A>G;ENST00000535475:exon10:c.772-2A>G;ENST00000586314:exon10:c.1056-2A>G;ENST00000590712:exon9:c.1189-2A>G;ENST00000538587:exon10:c.1207-2A>G;ENST00000586553:exon5:c.484-2A>G)	.	.	0.999988247793601	0.932
18	31523144	T	G	18	33943180	y	y	splicing	NOL4(NM_003787:exon10:c.1429-2A>C;NM_001282527:exon10:c.772-2A>C;NM_001198547:exon10:c.1207-2A>C;NM_001198546:exon9:c.1237-2A>C;NM_001198549:exon6:c.574-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon10:c.1429-2A>C;ENST00000535384:exon6:c.574-2A>C;ENST00000535475:exon10:c.772-2A>C;ENST00000586314:exon10:c.1056-2A>C;ENST00000590712:exon9:c.1189-2A>C;ENST00000538587:exon10:c.1207-2A>C;ENST00000586553:exon5:c.484-2A>C)	.	.	0.999988247793601	0.932
18	31523145	A	C	18	33943181	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99267373124512	0.626
18	31523145	A	G	18	33943181	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.31446990942381E-4	0.006
18	31523145	A	T	18	33943181	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00132836066549562	0.074
18	31523146	A	C	18	33943182	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0281910466700166	0.086
18	31523146	A	G	18	33943182	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00453199432945216	0.02
18	31523146	A	T	18	33943182	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0414908205215543	0.084
18	31523147	A	C	18	33943183	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.43408971663347E-4	0.166
18	31523147	A	G	18	33943183	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.12948364886344E-4	0.004
18	31523147	A	T	18	33943183	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.38255510865569E-4	0.172
18	31523148	A	C	18	33943184	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0850994250600182	0.35
18	31523148	A	G	18	33943184	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00895524750174302	0.09
18	31523148	A	T	18	33943184	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0872800783817016	0.372
18	31523149	A	C	18	33943185	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.25218241699947E-4	0.028
18	31523149	A	G	18	33943185	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.1568703876303E-5	0.0
18	31523149	A	T	18	33943185	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.13276557863502E-4	0.018
18	31523150	A	C	18	33943186	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00143844815511482	0.092
18	31523150	A	G	18	33943186	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.39960611489177E-4	0.026
18	31523150	A	T	18	33943186	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00415831025955731	0.108
18	31523151	A	C	18	33943187	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.57010237611591E-4	0.098
18	31523151	A	G	18	33943187	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.18624751415014E-4	0.072
18	31523151	A	T	18	33943187	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.37008576578587E-5	0.084
18	31523152	A	C	18	33943188	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.9811465100281E-4	0.104
18	31523152	A	G	18	33943188	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.32188447016927E-4	0.008
18	31523152	A	T	18	33943188	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.09477177880761E-4	0.076
18	31523153	A	C	18	33943189	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.738633666742556	0.566
18	31523153	A	G	18	33943189	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.598562627767944	0.502
18	31523153	A	T	18	33943189	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.614421080731145	0.608
18	31523154	A	C	18	33943190	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.69043001544255E-4	0.096
18	31523154	A	G	18	33943190	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.90386775356927E-4	0.016
18	31523154	A	T	18	33943190	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00129815399028673	0.074
18	31537282	A	C	18	33957318	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.09007040325251E-4	0.002
18	31537282	A	G	18	33957318	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.16590608194614E-5	0.0
18	31537282	A	T	18	33957318	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.95048232548605E-4	0.024
18	31537283	A	C	18	33957319	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00963840441012031	0.022
18	31537283	A	G	18	33957319	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00963840441012031	0.022
18	31537283	A	T	18	33957319	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00982529486150466	0.026
18	31537284	A	C	18	33957320	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.922255998121099	0.674
18	31537284	A	G	18	33957320	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.949706245802646	0.654
18	31537284	A	T	18	33957320	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.992679198994738	0.806
18	31537285	C	A	18	33957321	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999944427944228	0.862
18	31537285	C	G	18	33957321	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99997631231343	0.894
18	31537285	C	T	18	33957321	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999926341319592	0.944
18	31537286	T	A	18	33957322	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.974676358410929	0.638
18	31537286	T	C	18	33957322	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.991446044723291	0.732
18	31537286	T	G	18	33957322	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.871019755460157	0.592
18	31537287	C	A	18	33957323	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.994037610768256	0.658
18	31537287	C	G	18	33957323	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999343473909152	0.742
18	31537287	C	T	18	33957323	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00355277783132456	0.04
18	31537288	A	C	18	33957324	y	y	splicing	NOL4(NM_003787:exon9:c.1428+2T>G;NM_001198547:exon9:c.1206+2T>G;NM_001198549:exon5:c.573+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1428+2T>G;ENST00000535384:exon5:c.573+2T>G;ENST00000538587:exon9:c.1206+2T>G)	.	.	0.999988247793601	0.928
18	31537288	A	G	18	33957324	y	y	splicing	NOL4(NM_003787:exon9:c.1428+2T>C;NM_001198547:exon9:c.1206+2T>C;NM_001198549:exon5:c.573+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1428+2T>C;ENST00000535384:exon5:c.573+2T>C;ENST00000538587:exon9:c.1206+2T>C)	.	.	0.999943260809542	0.866
18	31537288	A	T	18	33957324	y	y	splicing	NOL4(NM_003787:exon9:c.1428+2T>A;NM_001198547:exon9:c.1206+2T>A;NM_001198549:exon5:c.573+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1428+2T>A;ENST00000535384:exon5:c.573+2T>A;ENST00000538587:exon9:c.1206+2T>A)	.	.	0.999988247793601	0.928
18	31537289	C	A	18	33957325	y	y	splicing	NOL4(NM_003787:exon9:c.1428+1G>T;NM_001198547:exon9:c.1206+1G>T;NM_001198549:exon5:c.573+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1428+1G>T;ENST00000535384:exon5:c.573+1G>T;ENST00000538587:exon9:c.1206+1G>T)	.	.	0.999989072007339	0.922
18	31537289	C	G	18	33957325	y	y	splicing	NOL4(NM_003787:exon9:c.1428+1G>C;NM_001198547:exon9:c.1206+1G>C;NM_001198549:exon5:c.573+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1428+1G>C;ENST00000535384:exon5:c.573+1G>C;ENST00000538587:exon9:c.1206+1G>C)	.	.	0.999989072007339	0.934
18	31537289	C	T	18	33957325	y	y	splicing	NOL4(NM_003787:exon9:c.1428+1G>A;NM_001198547:exon9:c.1206+1G>A;NM_001198549:exon5:c.573+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1428+1G>A;ENST00000535384:exon5:c.573+1G>A;ENST00000538587:exon9:c.1206+1G>A)	.	.	0.999989072007339	0.932
18	31537290	C	A	18	33957326	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.G1206T:p.M402I;NOL4:NM_003787:exon8:c.G1428T:p.M476I;NOL4:NM_001198549:exon4:c.G573T:p.M191I;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.G1206T:p.M402I;ENSG00000101746:ENST00000535384:exon4:c.G573T:p.M191I;ENSG00000101746:ENST00000261592:exon8:c.G1428T:p.M476I;	0.999938698561886	0.962
18	31537290	C	G	18	33957326	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.G1206C:p.M402I;NOL4:NM_003787:exon8:c.G1428C:p.M476I;NOL4:NM_001198549:exon4:c.G573C:p.M191I;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.G1206C:p.M402I;ENSG00000101746:ENST00000535384:exon4:c.G573C:p.M191I;ENSG00000101746:ENST00000261592:exon8:c.G1428C:p.M476I;	0.999966810337047	0.946
18	31537290	C	T	18	33957326	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.G1206A:p.M402I;NOL4:NM_003787:exon8:c.G1428A:p.M476I;NOL4:NM_001198549:exon4:c.G573A:p.M191I;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.G1206A:p.M402I;ENSG00000101746:ENST00000535384:exon4:c.G573A:p.M191I;ENSG00000101746:ENST00000261592:exon8:c.G1428A:p.M476I;	0.999958855796422	0.984
18	31537291	A	C	18	33957327	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.T1205G:p.M402R;NOL4:NM_003787:exon8:c.T1427G:p.M476R;NOL4:NM_001198549:exon4:c.T572G:p.M191R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.T1205G:p.M402R;ENSG00000101746:ENST00000535384:exon4:c.T572G:p.M191R;ENSG00000101746:ENST00000261592:exon8:c.T1427G:p.M476R;	0.911255577971966	0.678
18	31537291	A	G	18	33957327	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.T1205C:p.M402T;NOL4:NM_003787:exon8:c.T1427C:p.M476T;NOL4:NM_001198549:exon4:c.T572C:p.M191T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.T1205C:p.M402T;ENSG00000101746:ENST00000535384:exon4:c.T572C:p.M191T;ENSG00000101746:ENST00000261592:exon8:c.T1427C:p.M476T;	0.0314572022467316	0.128
18	31537291	A	T	18	33957327	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.T1205A:p.M402K;NOL4:NM_003787:exon8:c.T1427A:p.M476K;NOL4:NM_001198549:exon4:c.T572A:p.M191K;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.T1205A:p.M402K;ENSG00000101746:ENST00000535384:exon4:c.T572A:p.M191K;ENSG00000101746:ENST00000261592:exon8:c.T1427A:p.M476K;	0.824315460492287	0.658
18	31537292	T	A	18	33957328	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.A1204T:p.M402L;NOL4:NM_003787:exon8:c.A1426T:p.M476L;NOL4:NM_001198549:exon4:c.A571T:p.M191L;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.A1204T:p.M402L;ENSG00000101746:ENST00000535384:exon4:c.A571T:p.M191L;ENSG00000101746:ENST00000261592:exon8:c.A1426T:p.M476L;	0.635289129255153	0.418
18	31537292	T	C	18	33957328	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.A1204G:p.M402V;NOL4:NM_003787:exon8:c.A1426G:p.M476V;NOL4:NM_001198549:exon4:c.A571G:p.M191V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.A1204G:p.M402V;ENSG00000101746:ENST00000535384:exon4:c.A571G:p.M191V;ENSG00000101746:ENST00000261592:exon8:c.A1426G:p.M476V;	0.0577449963266259	0.186
18	31537292	T	G	18	33957328	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.A1204C:p.M402L;NOL4:NM_003787:exon8:c.A1426C:p.M476L;NOL4:NM_001198549:exon4:c.A571C:p.M191L;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.A1204C:p.M402L;ENSG00000101746:ENST00000535384:exon4:c.A571C:p.M191L;ENSG00000101746:ENST00000261592:exon8:c.A1426C:p.M476L;	0.00663651989475377	0.05
18	31537480	A	C	18	33957516	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.T1016G:p.M339R;NOL4:NM_003787:exon8:c.T1238G:p.M413R;NOL4:NM_001198549:exon4:c.T383G:p.M128R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.T1016G:p.M339R;ENSG00000101746:ENST00000535384:exon4:c.T383G:p.M128R;ENSG00000101746:ENST00000261592:exon8:c.T1238G:p.M413R;	0.904846175847505	0.416
18	31537480	A	G	18	33957516	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.T1016C:p.M339T;NOL4:NM_003787:exon8:c.T1238C:p.M413T;NOL4:NM_001198549:exon4:c.T383C:p.M128T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.T1016C:p.M339T;ENSG00000101746:ENST00000535384:exon4:c.T383C:p.M128T;ENSG00000101746:ENST00000261592:exon8:c.T1238C:p.M413T;	0.871045270343369	0.39
18	31537480	A	T	18	33957516	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.T1016A:p.M339K;NOL4:NM_003787:exon8:c.T1238A:p.M413K;NOL4:NM_001198549:exon4:c.T383A:p.M128K;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.T1016A:p.M339K;ENSG00000101746:ENST00000535384:exon4:c.T383A:p.M128K;ENSG00000101746:ENST00000261592:exon8:c.T1238A:p.M413K;	0.903630302645699	0.488
18	31537481	T	A	18	33957517	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.A1015T:p.M339L;NOL4:NM_003787:exon8:c.A1237T:p.M413L;NOL4:NM_001198549:exon4:c.A382T:p.M128L;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.A1015T:p.M339L;ENSG00000101746:ENST00000535384:exon4:c.A382T:p.M128L;ENSG00000101746:ENST00000261592:exon8:c.A1237T:p.M413L;	0.937240749863475	0.582
18	31537481	T	C	18	33957517	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.A1015G:p.M339V;NOL4:NM_003787:exon8:c.A1237G:p.M413V;NOL4:NM_001198549:exon4:c.A382G:p.M128V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.A1015G:p.M339V;ENSG00000101746:ENST00000535384:exon4:c.A382G:p.M128V;ENSG00000101746:ENST00000261592:exon8:c.A1237G:p.M413V;	0.698501781543965	0.464
18	31537481	T	G	18	33957517	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon8:c.A1015C:p.M339L;NOL4:NM_003787:exon8:c.A1237C:p.M413L;NOL4:NM_001198549:exon4:c.A382C:p.M128L;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon8:c.A1015C:p.M339L;ENSG00000101746:ENST00000535384:exon4:c.A382C:p.M128L;ENSG00000101746:ENST00000261592:exon8:c.A1237C:p.M413L;	0.957751513569036	0.656
18	31537482	C	A	18	33957518	y	y	splicing	NOL4(NM_003787:exon9:c.1237-1G>T;NM_001198547:exon9:c.1015-1G>T;NM_001198549:exon5:c.382-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1237-1G>T;ENST00000535384:exon5:c.382-1G>T;ENST00000538587:exon9:c.1015-1G>T)	.	.	0.999989072007339	0.946
18	31537482	C	G	18	33957518	y	y	splicing	NOL4(NM_003787:exon9:c.1237-1G>C;NM_001198547:exon9:c.1015-1G>C;NM_001198549:exon5:c.382-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1237-1G>C;ENST00000535384:exon5:c.382-1G>C;ENST00000538587:exon9:c.1015-1G>C)	.	.	0.999989072007339	0.946
18	31537482	C	T	18	33957518	y	y	splicing	NOL4(NM_003787:exon9:c.1237-1G>A;NM_001198547:exon9:c.1015-1G>A;NM_001198549:exon5:c.382-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1237-1G>A;ENST00000535384:exon5:c.382-1G>A;ENST00000538587:exon9:c.1015-1G>A)	.	.	0.999989072007339	0.946
18	31537483	T	A	18	33957519	y	y	splicing	NOL4(NM_003787:exon9:c.1237-2A>T;NM_001198547:exon9:c.1015-2A>T;NM_001198549:exon5:c.382-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1237-2A>T;ENST00000535384:exon5:c.382-2A>T;ENST00000538587:exon9:c.1015-2A>T)	.	.	0.999988247793601	0.948
18	31537483	T	C	18	33957519	y	y	splicing	NOL4(NM_003787:exon9:c.1237-2A>G;NM_001198547:exon9:c.1015-2A>G;NM_001198549:exon5:c.382-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1237-2A>G;ENST00000535384:exon5:c.382-2A>G;ENST00000538587:exon9:c.1015-2A>G)	.	.	0.999988247793601	0.948
18	31537483	T	G	18	33957519	y	y	splicing	NOL4(NM_003787:exon9:c.1237-2A>C;NM_001198547:exon9:c.1015-2A>C;NM_001198549:exon5:c.382-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon9:c.1237-2A>C;ENST00000535384:exon5:c.382-2A>C;ENST00000538587:exon9:c.1015-2A>C)	.	.	0.999988247793601	0.948
18	31537484	G	A	18	33957520	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.247127771877122	0.14
18	31537484	G	C	18	33957520	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999905875552282	0.958
18	31537484	G	T	18	33957520	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999743094484708	0.922
18	31537485	T	A	18	33957521	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0372049433714475	0.224
18	31537485	T	C	18	33957521	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.984247514681858	0.62
18	31537485	T	G	18	33957521	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00759030015889577	0.06
18	31537486	T	A	18	33957522	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00164230339968162	0.014
18	31537486	T	C	18	33957522	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0114810302890814	0.044
18	31537486	T	G	18	33957522	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00948474122962008	0.036
18	31537487	G	A	18	33957523	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00333011469326327	0.092
18	31537487	G	C	18	33957523	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.866347139818127	0.622
18	31537487	G	T	18	33957523	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.713846925073282	0.646
18	31537488	G	A	18	33957524	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00302443764236381	0.07
18	31537488	G	C	18	33957524	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.901711054861788	0.508
18	31537488	G	T	18	33957524	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.919789840664043	0.512
18	31537489	C	A	18	33957525	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00225036788011454	0.046
18	31537489	C	G	18	33957525	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00337153097442721	0.062
18	31537489	C	T	18	33957525	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0426266941768999	0.224
18	31537490	A	C	18	33957526	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999568105560342	0.894
18	31537490	A	G	18	33957526	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.716671515284269	0.5
18	31537490	A	T	18	33957526	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999990331587768	0.982
18	31537491	A	C	18	33957527	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998485239777482	0.804
18	31537491	A	G	18	33957527	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.854690986742689	0.446
18	31537491	A	T	18	33957527	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999480556962917	0.906
18	31537492	G	A	18	33957528	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.944425490074987	0.648
18	31537492	G	C	18	33957528	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.971030435111301	0.656
18	31537492	G	T	18	33957528	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.972934006292846	0.704
18	31537493	A	C	18	33957529	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998876058645655	0.9
18	31537493	A	G	18	33957529	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.827361247447262	0.49
18	31537493	A	T	18	33957529	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998867822229617	0.91
18	31538195	G	A	18	33958231	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.52618072105622E-5	0.0
18	31538195	G	C	18	33958231	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.40365943194871E-5	0.0
18	31538195	G	T	18	33958231	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.76926247400981E-5	0.0
18	31538196	G	A	18	33958232	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00425558813127874	0.088
18	31538196	G	C	18	33958232	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00478271310847502	0.056
18	31538196	G	T	18	33958232	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0163655246686406	0.082
18	31538197	A	C	18	33958233	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.983699664520495	0.778
18	31538197	A	G	18	33958233	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.979124793366052	0.7
18	31538197	A	T	18	33958233	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.979281714982534	0.794
18	31538198	C	A	18	33958234	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999979678917543	0.994
18	31538198	C	G	18	33958234	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999266254690082	0.954
18	31538198	C	T	18	33958234	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99996596223829	0.992
18	31538199	T	A	18	33958235	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999070966662424	0.92
18	31538199	T	C	18	33958235	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.992691655348523	0.794
18	31538199	T	G	18	33958235	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.980042271171161	0.77
18	31538200	C	A	18	33958236	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999523571625585	0.682
18	31538200	C	G	18	33958236	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.997874488982227	0.756
18	31538200	C	T	18	33958236	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00121947219530868	0.018
18	31538201	A	C	18	33958237	y	y	splicing	NOL4(NM_003787:exon8:c.1236+2T>G;NM_001282527:exon9:c.771+2T>G;NM_001198548:exon8:c.1236+2T>G;NM_001198547:exon8:c.1014+2T>G;NM_001198546:exon8:c.1236+2T>G;NM_001198549:exon4:c.381+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1236+2T>G;ENST00000269185:exon8:c.894+2T>G;ENST00000535384:exon4:c.381+2T>G;ENST00000535475:exon9:c.771+2T>G;ENST00000589544:exon8:c.1236+2T>G;ENST00000586314:exon9:c.1055+2T>G;ENST00000590712:exon8:c.1188+2T>G;ENST00000538587:exon8:c.1014+2T>G;ENST00000586553:exon4:c.483+2T>G)	.	.	0.999988247793601	0.926
18	31538201	A	G	18	33958237	y	y	splicing	NOL4(NM_003787:exon8:c.1236+2T>C;NM_001282527:exon9:c.771+2T>C;NM_001198548:exon8:c.1236+2T>C;NM_001198547:exon8:c.1014+2T>C;NM_001198546:exon8:c.1236+2T>C;NM_001198549:exon4:c.381+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1236+2T>C;ENST00000269185:exon8:c.894+2T>C;ENST00000535384:exon4:c.381+2T>C;ENST00000535475:exon9:c.771+2T>C;ENST00000589544:exon8:c.1236+2T>C;ENST00000586314:exon9:c.1055+2T>C;ENST00000590712:exon8:c.1188+2T>C;ENST00000538587:exon8:c.1014+2T>C;ENST00000586553:exon4:c.483+2T>C)	.	.	0.99991520749976	0.862
18	31538201	A	T	18	33958237	y	y	splicing	NOL4(NM_003787:exon8:c.1236+2T>A;NM_001282527:exon9:c.771+2T>A;NM_001198548:exon8:c.1236+2T>A;NM_001198547:exon8:c.1014+2T>A;NM_001198546:exon8:c.1236+2T>A;NM_001198549:exon4:c.381+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1236+2T>A;ENST00000269185:exon8:c.894+2T>A;ENST00000535384:exon4:c.381+2T>A;ENST00000535475:exon9:c.771+2T>A;ENST00000589544:exon8:c.1236+2T>A;ENST00000586314:exon9:c.1055+2T>A;ENST00000590712:exon8:c.1188+2T>A;ENST00000538587:exon8:c.1014+2T>A;ENST00000586553:exon4:c.483+2T>A)	.	.	0.999988247793601	0.928
18	31538202	C	A	18	33958238	y	y	splicing	NOL4(NM_003787:exon8:c.1236+1G>T;NM_001282527:exon9:c.771+1G>T;NM_001198548:exon8:c.1236+1G>T;NM_001198547:exon8:c.1014+1G>T;NM_001198546:exon8:c.1236+1G>T;NM_001198549:exon4:c.381+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1236+1G>T;ENST00000269185:exon8:c.894+1G>T;ENST00000535384:exon4:c.381+1G>T;ENST00000535475:exon9:c.771+1G>T;ENST00000589544:exon8:c.1236+1G>T;ENST00000586314:exon9:c.1055+1G>T;ENST00000590712:exon8:c.1188+1G>T;ENST00000538587:exon8:c.1014+1G>T;ENST00000586553:exon4:c.483+1G>T)	.	.	0.999986675681007	0.934
18	31538202	C	G	18	33958238	y	y	splicing	NOL4(NM_003787:exon8:c.1236+1G>C;NM_001282527:exon9:c.771+1G>C;NM_001198548:exon8:c.1236+1G>C;NM_001198547:exon8:c.1014+1G>C;NM_001198546:exon8:c.1236+1G>C;NM_001198549:exon4:c.381+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1236+1G>C;ENST00000269185:exon8:c.894+1G>C;ENST00000535384:exon4:c.381+1G>C;ENST00000535475:exon9:c.771+1G>C;ENST00000589544:exon8:c.1236+1G>C;ENST00000586314:exon9:c.1055+1G>C;ENST00000590712:exon8:c.1188+1G>C;ENST00000538587:exon8:c.1014+1G>C;ENST00000586553:exon4:c.483+1G>C)	.	.	0.999986675681007	0.934
18	31538202	C	T	18	33958238	y	y	splicing	NOL4(NM_003787:exon8:c.1236+1G>A;NM_001282527:exon9:c.771+1G>A;NM_001198548:exon8:c.1236+1G>A;NM_001198547:exon8:c.1014+1G>A;NM_001198546:exon8:c.1236+1G>A;NM_001198549:exon4:c.381+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1236+1G>A;ENST00000269185:exon8:c.894+1G>A;ENST00000535384:exon4:c.381+1G>A;ENST00000535475:exon9:c.771+1G>A;ENST00000589544:exon8:c.1236+1G>A;ENST00000586314:exon9:c.1055+1G>A;ENST00000590712:exon8:c.1188+1G>A;ENST00000538587:exon8:c.1014+1G>A;ENST00000586553:exon4:c.483+1G>A)	.	.	0.999986675681007	0.934
18	31538203	A	C	18	33958239	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.T1014G:p.N338K;NOL4:NM_003787:exon7:c.T1236G:p.N412K;NOL4:NM_001282527:exon8:c.T771G:p.N257K;NOL4:NM_001198549:exon3:c.T381G:p.N127K;NOL4:NM_001198548:exon7:c.T1236G:p.N412K;NOL4:NM_001198546:exon7:c.T1236G:p.N412K;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.T1014G:p.N338K;ENSG00000101746:ENST00000535384:exon3:c.T381G:p.N127K;ENSG00000101746:ENST00000535475:exon8:c.T771G:p.N257K;ENSG00000101746:ENST00000590712:exon7:c.T1188G:p.N396K;ENSG00000101746:ENST00000589544:exon7:c.T1236G:p.N412K;ENSG00000101746:ENST00000261592:exon7:c.T1236G:p.N412K;ENSG00000101746:ENST00000586553:exon3:c.T483G:p.N161K;ENSG00000101746:ENST00000269185:exon7:c.T894G:p.N298K;	6.21032581032514E-5	0.15
18	31538203	A	G	18	33958239	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon7:c.T1014C:p.N338N;NOL4:NM_003787:exon7:c.T1236C:p.N412N;NOL4:NM_001282527:exon8:c.T771C:p.N257N;NOL4:NM_001198549:exon3:c.T381C:p.N127N;NOL4:NM_001198548:exon7:c.T1236C:p.N412N;NOL4:NM_001198546:exon7:c.T1236C:p.N412N;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.T1014C:p.N338N;ENSG00000101746:ENST00000535384:exon3:c.T381C:p.N127N;ENSG00000101746:ENST00000535475:exon8:c.T771C:p.N257N;ENSG00000101746:ENST00000590712:exon7:c.T1188C:p.N396N;ENSG00000101746:ENST00000589544:exon7:c.T1236C:p.N412N;ENSG00000101746:ENST00000261592:exon7:c.T1236C:p.N412N;ENSG00000101746:ENST00000586553:exon3:c.T483C:p.N161N;ENSG00000101746:ENST00000269185:exon7:c.T894C:p.N298N;	5.84341230427051E-4	0.074
18	31538203	A	T	18	33958239	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.T1014A:p.N338K;NOL4:NM_003787:exon7:c.T1236A:p.N412K;NOL4:NM_001282527:exon8:c.T771A:p.N257K;NOL4:NM_001198549:exon3:c.T381A:p.N127K;NOL4:NM_001198548:exon7:c.T1236A:p.N412K;NOL4:NM_001198546:exon7:c.T1236A:p.N412K;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.T1014A:p.N338K;ENSG00000101746:ENST00000535384:exon3:c.T381A:p.N127K;ENSG00000101746:ENST00000535475:exon8:c.T771A:p.N257K;ENSG00000101746:ENST00000590712:exon7:c.T1188A:p.N396K;ENSG00000101746:ENST00000589544:exon7:c.T1236A:p.N412K;ENSG00000101746:ENST00000261592:exon7:c.T1236A:p.N412K;ENSG00000101746:ENST00000586553:exon3:c.T483A:p.N161K;ENSG00000101746:ENST00000269185:exon7:c.T894A:p.N298K;	6.11105794825071E-5	0.1
18	31538204	T	A	18	33958240	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.A1013T:p.N338I;NOL4:NM_003787:exon7:c.A1235T:p.N412I;NOL4:NM_001282527:exon8:c.A770T:p.N257I;NOL4:NM_001198549:exon3:c.A380T:p.N127I;NOL4:NM_001198548:exon7:c.A1235T:p.N412I;NOL4:NM_001198546:exon7:c.A1235T:p.N412I;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.A1013T:p.N338I;ENSG00000101746:ENST00000535384:exon3:c.A380T:p.N127I;ENSG00000101746:ENST00000535475:exon8:c.A770T:p.N257I;ENSG00000101746:ENST00000590712:exon7:c.A1187T:p.N396I;ENSG00000101746:ENST00000589544:exon7:c.A1235T:p.N412I;ENSG00000101746:ENST00000261592:exon7:c.A1235T:p.N412I;ENSG00000101746:ENST00000586553:exon3:c.A482T:p.N161I;ENSG00000101746:ENST00000269185:exon7:c.A893T:p.N298I;	0.999273524362352	0.94
18	31538204	T	C	18	33958240	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.A1013G:p.N338S;NOL4:NM_003787:exon7:c.A1235G:p.N412S;NOL4:NM_001282527:exon8:c.A770G:p.N257S;NOL4:NM_001198549:exon3:c.A380G:p.N127S;NOL4:NM_001198548:exon7:c.A1235G:p.N412S;NOL4:NM_001198546:exon7:c.A1235G:p.N412S;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.A1013G:p.N338S;ENSG00000101746:ENST00000535384:exon3:c.A380G:p.N127S;ENSG00000101746:ENST00000535475:exon8:c.A770G:p.N257S;ENSG00000101746:ENST00000590712:exon7:c.A1187G:p.N396S;ENSG00000101746:ENST00000589544:exon7:c.A1235G:p.N412S;ENSG00000101746:ENST00000261592:exon7:c.A1235G:p.N412S;ENSG00000101746:ENST00000586553:exon3:c.A482G:p.N161S;ENSG00000101746:ENST00000269185:exon7:c.A893G:p.N298S;	0.995497656980496	0.852
18	31538204	T	G	18	33958240	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.A1013C:p.N338T;NOL4:NM_003787:exon7:c.A1235C:p.N412T;NOL4:NM_001282527:exon8:c.A770C:p.N257T;NOL4:NM_001198549:exon3:c.A380C:p.N127T;NOL4:NM_001198548:exon7:c.A1235C:p.N412T;NOL4:NM_001198546:exon7:c.A1235C:p.N412T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.A1013C:p.N338T;ENSG00000101746:ENST00000535384:exon3:c.A380C:p.N127T;ENSG00000101746:ENST00000535475:exon8:c.A770C:p.N257T;ENSG00000101746:ENST00000590712:exon7:c.A1187C:p.N396T;ENSG00000101746:ENST00000589544:exon7:c.A1235C:p.N412T;ENSG00000101746:ENST00000261592:exon7:c.A1235C:p.N412T;ENSG00000101746:ENST00000586553:exon3:c.A482C:p.N161T;ENSG00000101746:ENST00000269185:exon7:c.A893C:p.N298T;	0.998556138763011	0.956
18	31538205	T	A	18	33958241	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.A1012T:p.N338Y;NOL4:NM_003787:exon7:c.A1234T:p.N412Y;NOL4:NM_001282527:exon8:c.A769T:p.N257Y;NOL4:NM_001198549:exon3:c.A379T:p.N127Y;NOL4:NM_001198548:exon7:c.A1234T:p.N412Y;NOL4:NM_001198546:exon7:c.A1234T:p.N412Y;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.A1012T:p.N338Y;ENSG00000101746:ENST00000535384:exon3:c.A379T:p.N127Y;ENSG00000101746:ENST00000535475:exon8:c.A769T:p.N257Y;ENSG00000101746:ENST00000590712:exon7:c.A1186T:p.N396Y;ENSG00000101746:ENST00000589544:exon7:c.A1234T:p.N412Y;ENSG00000101746:ENST00000261592:exon7:c.A1234T:p.N412Y;ENSG00000101746:ENST00000586553:exon3:c.A481T:p.N161Y;ENSG00000101746:ENST00000269185:exon7:c.A892T:p.N298Y;	0.965365538171471	0.684
18	31538205	T	C	18	33958241	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.A1012G:p.N338D;NOL4:NM_003787:exon7:c.A1234G:p.N412D;NOL4:NM_001282527:exon8:c.A769G:p.N257D;NOL4:NM_001198549:exon3:c.A379G:p.N127D;NOL4:NM_001198548:exon7:c.A1234G:p.N412D;NOL4:NM_001198546:exon7:c.A1234G:p.N412D;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.A1012G:p.N338D;ENSG00000101746:ENST00000535384:exon3:c.A379G:p.N127D;ENSG00000101746:ENST00000535475:exon8:c.A769G:p.N257D;ENSG00000101746:ENST00000590712:exon7:c.A1186G:p.N396D;ENSG00000101746:ENST00000589544:exon7:c.A1234G:p.N412D;ENSG00000101746:ENST00000261592:exon7:c.A1234G:p.N412D;ENSG00000101746:ENST00000586553:exon3:c.A481G:p.N161D;ENSG00000101746:ENST00000269185:exon7:c.A892G:p.N298D;	0.209862207181019	0.374
18	31538205	T	G	18	33958241	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.A1012C:p.N338H;NOL4:NM_003787:exon7:c.A1234C:p.N412H;NOL4:NM_001282527:exon8:c.A769C:p.N257H;NOL4:NM_001198549:exon3:c.A379C:p.N127H;NOL4:NM_001198548:exon7:c.A1234C:p.N412H;NOL4:NM_001198546:exon7:c.A1234C:p.N412H;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.A1012C:p.N338H;ENSG00000101746:ENST00000535384:exon3:c.A379C:p.N127H;ENSG00000101746:ENST00000535475:exon8:c.A769C:p.N257H;ENSG00000101746:ENST00000590712:exon7:c.A1186C:p.N396H;ENSG00000101746:ENST00000589544:exon7:c.A1234C:p.N412H;ENSG00000101746:ENST00000261592:exon7:c.A1234C:p.N412H;ENSG00000101746:ENST00000586553:exon3:c.A481C:p.N161H;ENSG00000101746:ENST00000269185:exon7:c.A892C:p.N298H;	0.774952908993852	0.686
18	31538381	G	A	18	33958417	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.C836T:p.S279F;NOL4:NM_003787:exon7:c.C1058T:p.S353F;NOL4:NM_001282527:exon8:c.C593T:p.S198F;NOL4:NM_001198549:exon3:c.C203T:p.S68F;NOL4:NM_001198548:exon7:c.C1058T:p.S353F;NOL4:NM_001198546:exon7:c.C1058T:p.S353F;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.C836T:p.S279F;ENSG00000101746:ENST00000535384:exon3:c.C203T:p.S68F;ENSG00000101746:ENST00000535475:exon8:c.C593T:p.S198F;ENSG00000101746:ENST00000590712:exon7:c.C1010T:p.S337F;ENSG00000101746:ENST00000589544:exon7:c.C1058T:p.S353F;ENSG00000101746:ENST00000261592:exon7:c.C1058T:p.S353F;ENSG00000101746:ENST00000586553:exon3:c.C305T:p.S102F;ENSG00000101746:ENST00000269185:exon7:c.C716T:p.S239F;	0.978039503904839	0.792
18	31538381	G	C	18	33958417	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.C836G:p.S279C;NOL4:NM_003787:exon7:c.C1058G:p.S353C;NOL4:NM_001282527:exon8:c.C593G:p.S198C;NOL4:NM_001198549:exon3:c.C203G:p.S68C;NOL4:NM_001198548:exon7:c.C1058G:p.S353C;NOL4:NM_001198546:exon7:c.C1058G:p.S353C;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.C836G:p.S279C;ENSG00000101746:ENST00000535384:exon3:c.C203G:p.S68C;ENSG00000101746:ENST00000535475:exon8:c.C593G:p.S198C;ENSG00000101746:ENST00000590712:exon7:c.C1010G:p.S337C;ENSG00000101746:ENST00000589544:exon7:c.C1058G:p.S353C;ENSG00000101746:ENST00000261592:exon7:c.C1058G:p.S353C;ENSG00000101746:ENST00000586553:exon3:c.C305G:p.S102C;ENSG00000101746:ENST00000269185:exon7:c.C716G:p.S239C;	0.972224270160023	0.76
18	31538381	G	T	18	33958417	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.C836A:p.S279Y;NOL4:NM_003787:exon7:c.C1058A:p.S353Y;NOL4:NM_001282527:exon8:c.C593A:p.S198Y;NOL4:NM_001198549:exon3:c.C203A:p.S68Y;NOL4:NM_001198548:exon7:c.C1058A:p.S353Y;NOL4:NM_001198546:exon7:c.C1058A:p.S353Y;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.C836A:p.S279Y;ENSG00000101746:ENST00000535384:exon3:c.C203A:p.S68Y;ENSG00000101746:ENST00000535475:exon8:c.C593A:p.S198Y;ENSG00000101746:ENST00000590712:exon7:c.C1010A:p.S337Y;ENSG00000101746:ENST00000589544:exon7:c.C1058A:p.S353Y;ENSG00000101746:ENST00000261592:exon7:c.C1058A:p.S353Y;ENSG00000101746:ENST00000586553:exon3:c.C305A:p.S102Y;ENSG00000101746:ENST00000269185:exon7:c.C716A:p.S239Y;	0.988151465296188	0.858
18	31538382	A	C	18	33958418	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.T835G:p.S279A;NOL4:NM_003787:exon7:c.T1057G:p.S353A;NOL4:NM_001282527:exon8:c.T592G:p.S198A;NOL4:NM_001198549:exon3:c.T202G:p.S68A;NOL4:NM_001198548:exon7:c.T1057G:p.S353A;NOL4:NM_001198546:exon7:c.T1057G:p.S353A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.T835G:p.S279A;ENSG00000101746:ENST00000535384:exon3:c.T202G:p.S68A;ENSG00000101746:ENST00000535475:exon8:c.T592G:p.S198A;ENSG00000101746:ENST00000590712:exon7:c.T1009G:p.S337A;ENSG00000101746:ENST00000589544:exon7:c.T1057G:p.S353A;ENSG00000101746:ENST00000261592:exon7:c.T1057G:p.S353A;ENSG00000101746:ENST00000586553:exon3:c.T304G:p.S102A;ENSG00000101746:ENST00000269185:exon7:c.T715G:p.S239A;	0.587441745993272	0.564
18	31538382	A	G	18	33958418	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.T835C:p.S279P;NOL4:NM_003787:exon7:c.T1057C:p.S353P;NOL4:NM_001282527:exon8:c.T592C:p.S198P;NOL4:NM_001198549:exon3:c.T202C:p.S68P;NOL4:NM_001198548:exon7:c.T1057C:p.S353P;NOL4:NM_001198546:exon7:c.T1057C:p.S353P;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.T835C:p.S279P;ENSG00000101746:ENST00000535384:exon3:c.T202C:p.S68P;ENSG00000101746:ENST00000535475:exon8:c.T592C:p.S198P;ENSG00000101746:ENST00000590712:exon7:c.T1009C:p.S337P;ENSG00000101746:ENST00000589544:exon7:c.T1057C:p.S353P;ENSG00000101746:ENST00000261592:exon7:c.T1057C:p.S353P;ENSG00000101746:ENST00000586553:exon3:c.T304C:p.S102P;ENSG00000101746:ENST00000269185:exon7:c.T715C:p.S239P;	0.694682601810285	0.502
18	31538382	A	T	18	33958418	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon7:c.T835A:p.S279T;NOL4:NM_003787:exon7:c.T1057A:p.S353T;NOL4:NM_001282527:exon8:c.T592A:p.S198T;NOL4:NM_001198549:exon3:c.T202A:p.S68T;NOL4:NM_001198548:exon7:c.T1057A:p.S353T;NOL4:NM_001198546:exon7:c.T1057A:p.S353T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon7:c.T835A:p.S279T;ENSG00000101746:ENST00000535384:exon3:c.T202A:p.S68T;ENSG00000101746:ENST00000535475:exon8:c.T592A:p.S198T;ENSG00000101746:ENST00000590712:exon7:c.T1009A:p.S337T;ENSG00000101746:ENST00000589544:exon7:c.T1057A:p.S353T;ENSG00000101746:ENST00000261592:exon7:c.T1057A:p.S353T;ENSG00000101746:ENST00000586553:exon3:c.T304A:p.S102T;ENSG00000101746:ENST00000269185:exon7:c.T715A:p.S239T;	0.607356236934574	0.67
18	31538383	C	A	18	33958419	y	y	splicing	NOL4(NM_003787:exon8:c.1057-1G>T;NM_001282527:exon9:c.592-1G>T;NM_001198548:exon8:c.1057-1G>T;NM_001198547:exon8:c.835-1G>T;NM_001198546:exon8:c.1057-1G>T;NM_001198549:exon4:c.202-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1057-1G>T;ENST00000269185:exon8:c.715-1G>T;ENST00000535384:exon4:c.202-1G>T;ENST00000535475:exon9:c.592-1G>T;ENST00000589544:exon8:c.1057-1G>T;ENST00000586314:exon9:c.876-1G>T;ENST00000590712:exon8:c.1009-1G>T;ENST00000538587:exon8:c.835-1G>T;ENST00000586553:exon4:c.304-1G>T)	.	.	0.999986675681007	0.93
18	31538383	C	G	18	33958419	y	y	splicing	NOL4(NM_003787:exon8:c.1057-1G>C;NM_001282527:exon9:c.592-1G>C;NM_001198548:exon8:c.1057-1G>C;NM_001198547:exon8:c.835-1G>C;NM_001198546:exon8:c.1057-1G>C;NM_001198549:exon4:c.202-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1057-1G>C;ENST00000269185:exon8:c.715-1G>C;ENST00000535384:exon4:c.202-1G>C;ENST00000535475:exon9:c.592-1G>C;ENST00000589544:exon8:c.1057-1G>C;ENST00000586314:exon9:c.876-1G>C;ENST00000590712:exon8:c.1009-1G>C;ENST00000538587:exon8:c.835-1G>C;ENST00000586553:exon4:c.304-1G>C)	.	.	0.999986675681007	0.93
18	31538383	C	T	18	33958419	y	y	splicing	NOL4(NM_003787:exon8:c.1057-1G>A;NM_001282527:exon9:c.592-1G>A;NM_001198548:exon8:c.1057-1G>A;NM_001198547:exon8:c.835-1G>A;NM_001198546:exon8:c.1057-1G>A;NM_001198549:exon4:c.202-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1057-1G>A;ENST00000269185:exon8:c.715-1G>A;ENST00000535384:exon4:c.202-1G>A;ENST00000535475:exon9:c.592-1G>A;ENST00000589544:exon8:c.1057-1G>A;ENST00000586314:exon9:c.876-1G>A;ENST00000590712:exon8:c.1009-1G>A;ENST00000538587:exon8:c.835-1G>A;ENST00000586553:exon4:c.304-1G>A)	.	.	0.999986675681007	0.93
18	31538384	T	A	18	33958420	y	y	splicing	NOL4(NM_003787:exon8:c.1057-2A>T;NM_001282527:exon9:c.592-2A>T;NM_001198548:exon8:c.1057-2A>T;NM_001198547:exon8:c.835-2A>T;NM_001198546:exon8:c.1057-2A>T;NM_001198549:exon4:c.202-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1057-2A>T;ENST00000269185:exon8:c.715-2A>T;ENST00000535384:exon4:c.202-2A>T;ENST00000535475:exon9:c.592-2A>T;ENST00000589544:exon8:c.1057-2A>T;ENST00000586314:exon9:c.876-2A>T;ENST00000590712:exon8:c.1009-2A>T;ENST00000538587:exon8:c.835-2A>T;ENST00000586553:exon4:c.304-2A>T)	.	.	0.999988247793601	0.926
18	31538384	T	C	18	33958420	y	y	splicing	NOL4(NM_003787:exon8:c.1057-2A>G;NM_001282527:exon9:c.592-2A>G;NM_001198548:exon8:c.1057-2A>G;NM_001198547:exon8:c.835-2A>G;NM_001198546:exon8:c.1057-2A>G;NM_001198549:exon4:c.202-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1057-2A>G;ENST00000269185:exon8:c.715-2A>G;ENST00000535384:exon4:c.202-2A>G;ENST00000535475:exon9:c.592-2A>G;ENST00000589544:exon8:c.1057-2A>G;ENST00000586314:exon9:c.876-2A>G;ENST00000590712:exon8:c.1009-2A>G;ENST00000538587:exon8:c.835-2A>G;ENST00000586553:exon4:c.304-2A>G)	.	.	0.999988247793601	0.926
18	31538384	T	G	18	33958420	y	y	splicing	NOL4(NM_003787:exon8:c.1057-2A>C;NM_001282527:exon9:c.592-2A>C;NM_001198548:exon8:c.1057-2A>C;NM_001198547:exon8:c.835-2A>C;NM_001198546:exon8:c.1057-2A>C;NM_001198549:exon4:c.202-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon8:c.1057-2A>C;ENST00000269185:exon8:c.715-2A>C;ENST00000535384:exon4:c.202-2A>C;ENST00000535475:exon9:c.592-2A>C;ENST00000589544:exon8:c.1057-2A>C;ENST00000586314:exon9:c.876-2A>C;ENST00000590712:exon8:c.1009-2A>C;ENST00000538587:exon8:c.835-2A>C;ENST00000586553:exon4:c.304-2A>C)	.	.	0.999988247793601	0.926
18	31538385	G	A	18	33958421	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00582315168878268	0.062
18	31538385	G	C	18	33958421	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999453561243535	0.978
18	31538385	G	T	18	33958421	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.268555271494247	0.506
18	31538386	A	C	18	33958422	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.66383572812061E-5	0.0
18	31538386	A	G	18	33958422	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.92259817095581E-5	0.002
18	31538386	A	T	18	33958422	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.69950216973382E-5	0.0
18	31538387	A	C	18	33958423	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0804495719272277	0.438
18	31538387	A	G	18	33958423	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0103323323691859	0.112
18	31538387	A	T	18	33958423	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.153055450493592	0.424
18	31538388	A	C	18	33958424	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0377437469450958	0.228
18	31538388	A	G	18	33958424	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.78185617323294E-4	0.04
18	31538388	A	T	18	33958424	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0486890075739807	0.23
18	31538389	A	C	18	33958425	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.70212624716948E-4	0.036
18	31538389	A	G	18	33958425	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.80386904626372E-5	0.006
18	31538389	A	T	18	33958425	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.3146652330926E-4	0.052
18	31538390	G	A	18	33958426	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.07357362343274E-4	0.054
18	31538390	G	C	18	33958426	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00112765461150493	0.066
18	31538390	G	T	18	33958426	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00182545233757273	0.07
18	31538391	A	C	18	33958427	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00363467192798817	0.104
18	31538391	A	G	18	33958427	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.19272064279538E-4	0.014
18	31538391	A	T	18	33958427	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00406821869764183	0.098
18	31538392	G	A	18	33958428	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.54378489436712E-5	0.058
18	31538392	G	C	18	33958428	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00141377734762932	0.064
18	31538392	G	T	18	33958428	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00358122468610109	0.076
18	31538393	A	C	18	33958429	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00123223299180529	0.38
18	31538393	A	G	18	33958429	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.13093194926705E-4	0.132
18	31538393	A	T	18	33958429	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00302399679878755	0.428
18	31538394	A	C	18	33958430	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00101740531955815	0.048
18	31538394	A	G	18	33958430	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.997846791495E-5	0.016
18	31538394	A	T	18	33958430	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0027172791666176	0.09
18	31599274	G	A	18	34019310	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.16830651827433E-5	0.0
18	31599274	G	C	18	34019310	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.00504297320579E-4	0.0
18	31599274	G	T	18	34019310	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.00504297320579E-4	0.0
18	31599275	A	C	18	34019311	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.58268038511027E-5	0.0
18	31599275	A	G	18	34019311	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.49463031519016E-5	0.0
18	31599275	A	T	18	34019311	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.78063942311182E-5	0.002
18	31599276	T	A	18	34019312	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.57691420623645E-5	0.0
18	31599276	T	C	18	34019312	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.93809309342709E-6	0.004
18	31599276	T	G	18	34019312	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.90556481020161E-5	0.022
18	31599277	C	A	18	34019313	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.957354018829096	0.56
18	31599277	C	G	18	34019313	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.912830625201194	0.474
18	31599277	C	T	18	34019313	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.392113747633285	0.474
18	31599278	A	C	18	34019314	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.61720941682344E-5	0.0
18	31599278	A	G	18	34019314	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.36693690653045E-5	0.0
18	31599278	A	T	18	34019314	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.66972887472213E-4	0.056
18	31599279	T	A	18	34019315	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.997537785038036	0.858
18	31599279	T	C	18	34019315	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99368846155078	0.808
18	31599279	T	G	18	34019315	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999168933973389	0.868
18	31599280	A	C	18	34019316	y	y	splicing	NOL4(NM_003787:exon7:c.1056+2T>G;NM_001282527:exon8:c.591+2T>G;NM_001198548:exon7:c.1056+2T>G;NM_001198547:exon7:c.834+2T>G;NM_001198546:exon7:c.1056+2T>G;NM_001198549:exon3:c.201+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.1056+2T>G;ENST00000269185:exon7:c.714+2T>G;ENST00000535384:exon3:c.201+2T>G;ENST00000535475:exon8:c.591+2T>G;ENST00000589544:exon7:c.1056+2T>G;ENST00000586314:exon8:c.875+2T>G;ENST00000590712:exon7:c.1008+2T>G;ENST00000538587:exon7:c.834+2T>G;ENST00000586553:exon3:c.303+2T>G)	.	.	0.999988247793601	0.928
18	31599280	A	G	18	34019316	y	y	splicing	NOL4(NM_003787:exon7:c.1056+2T>C;NM_001282527:exon8:c.591+2T>C;NM_001198548:exon7:c.1056+2T>C;NM_001198547:exon7:c.834+2T>C;NM_001198546:exon7:c.1056+2T>C;NM_001198549:exon3:c.201+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.1056+2T>C;ENST00000269185:exon7:c.714+2T>C;ENST00000535384:exon3:c.201+2T>C;ENST00000535475:exon8:c.591+2T>C;ENST00000589544:exon7:c.1056+2T>C;ENST00000586314:exon8:c.875+2T>C;ENST00000590712:exon7:c.1008+2T>C;ENST00000538587:exon7:c.834+2T>C;ENST00000586553:exon3:c.303+2T>C)	.	.	0.989597641696455	0.63
18	31599280	A	T	18	34019316	y	y	splicing	NOL4(NM_003787:exon7:c.1056+2T>A;NM_001282527:exon8:c.591+2T>A;NM_001198548:exon7:c.1056+2T>A;NM_001198547:exon7:c.834+2T>A;NM_001198546:exon7:c.1056+2T>A;NM_001198549:exon3:c.201+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.1056+2T>A;ENST00000269185:exon7:c.714+2T>A;ENST00000535384:exon3:c.201+2T>A;ENST00000535475:exon8:c.591+2T>A;ENST00000589544:exon7:c.1056+2T>A;ENST00000586314:exon8:c.875+2T>A;ENST00000590712:exon7:c.1008+2T>A;ENST00000538587:exon7:c.834+2T>A;ENST00000586553:exon3:c.303+2T>A)	.	.	0.999988247793601	0.928
18	31599281	C	A	18	34019317	y	y	splicing	NOL4(NM_003787:exon7:c.1056+1G>T;NM_001282527:exon8:c.591+1G>T;NM_001198548:exon7:c.1056+1G>T;NM_001198547:exon7:c.834+1G>T;NM_001198546:exon7:c.1056+1G>T;NM_001198549:exon3:c.201+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.1056+1G>T;ENST00000269185:exon7:c.714+1G>T;ENST00000535384:exon3:c.201+1G>T;ENST00000535475:exon8:c.591+1G>T;ENST00000589544:exon7:c.1056+1G>T;ENST00000586314:exon8:c.875+1G>T;ENST00000590712:exon7:c.1008+1G>T;ENST00000538587:exon7:c.834+1G>T;ENST00000586553:exon3:c.303+1G>T)	.	.	0.999989072007339	0.928
18	31599281	C	G	18	34019317	y	y	splicing	NOL4(NM_003787:exon7:c.1056+1G>C;NM_001282527:exon8:c.591+1G>C;NM_001198548:exon7:c.1056+1G>C;NM_001198547:exon7:c.834+1G>C;NM_001198546:exon7:c.1056+1G>C;NM_001198549:exon3:c.201+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.1056+1G>C;ENST00000269185:exon7:c.714+1G>C;ENST00000535384:exon3:c.201+1G>C;ENST00000535475:exon8:c.591+1G>C;ENST00000589544:exon7:c.1056+1G>C;ENST00000586314:exon8:c.875+1G>C;ENST00000590712:exon7:c.1008+1G>C;ENST00000538587:exon7:c.834+1G>C;ENST00000586553:exon3:c.303+1G>C)	.	.	0.999989072007339	0.928
18	31599281	C	T	18	34019317	y	y	splicing	NOL4(NM_003787:exon7:c.1056+1G>A;NM_001282527:exon8:c.591+1G>A;NM_001198548:exon7:c.1056+1G>A;NM_001198547:exon7:c.834+1G>A;NM_001198546:exon7:c.1056+1G>A;NM_001198549:exon3:c.201+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.1056+1G>A;ENST00000269185:exon7:c.714+1G>A;ENST00000535384:exon3:c.201+1G>A;ENST00000535475:exon8:c.591+1G>A;ENST00000589544:exon7:c.1056+1G>A;ENST00000586314:exon8:c.875+1G>A;ENST00000590712:exon7:c.1008+1G>A;ENST00000538587:exon7:c.834+1G>A;ENST00000586553:exon3:c.303+1G>A)	.	.	0.999989072007339	0.93
18	31599282	C	A	18	34019318	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.G834T:p.K278N;NOL4:NM_003787:exon6:c.G1056T:p.K352N;NOL4:NM_001282527:exon7:c.G591T:p.K197N;NOL4:NM_001198549:exon2:c.G201T:p.K67N;NOL4:NM_001198548:exon6:c.G1056T:p.K352N;NOL4:NM_001198546:exon6:c.G1056T:p.K352N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.G834T:p.K278N;ENSG00000101746:ENST00000535384:exon2:c.G201T:p.K67N;ENSG00000101746:ENST00000535475:exon7:c.G591T:p.K197N;ENSG00000101746:ENST00000590712:exon6:c.G1008T:p.K336N;ENSG00000101746:ENST00000589544:exon6:c.G1056T:p.K352N;ENSG00000101746:ENST00000261592:exon6:c.G1056T:p.K352N;ENSG00000101746:ENST00000586553:exon2:c.G303T:p.K101N;ENSG00000101746:ENST00000269185:exon6:c.G714T:p.K238N;	0.999984397310502	0.998
18	31599282	C	G	18	34019318	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.G834C:p.K278N;NOL4:NM_003787:exon6:c.G1056C:p.K352N;NOL4:NM_001282527:exon7:c.G591C:p.K197N;NOL4:NM_001198549:exon2:c.G201C:p.K67N;NOL4:NM_001198548:exon6:c.G1056C:p.K352N;NOL4:NM_001198546:exon6:c.G1056C:p.K352N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.G834C:p.K278N;ENSG00000101746:ENST00000535384:exon2:c.G201C:p.K67N;ENSG00000101746:ENST00000535475:exon7:c.G591C:p.K197N;ENSG00000101746:ENST00000590712:exon6:c.G1008C:p.K336N;ENSG00000101746:ENST00000589544:exon6:c.G1056C:p.K352N;ENSG00000101746:ENST00000261592:exon6:c.G1056C:p.K352N;ENSG00000101746:ENST00000586553:exon2:c.G303C:p.K101N;ENSG00000101746:ENST00000269185:exon6:c.G714C:p.K238N;	0.999996025866693	0.998
18	31599282	C	T	18	34019318	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon6:c.G834A:p.K278K;NOL4:NM_003787:exon6:c.G1056A:p.K352K;NOL4:NM_001282527:exon7:c.G591A:p.K197K;NOL4:NM_001198549:exon2:c.G201A:p.K67K;NOL4:NM_001198548:exon6:c.G1056A:p.K352K;NOL4:NM_001198546:exon6:c.G1056A:p.K352K;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.G834A:p.K278K;ENSG00000101746:ENST00000535384:exon2:c.G201A:p.K67K;ENSG00000101746:ENST00000535475:exon7:c.G591A:p.K197K;ENSG00000101746:ENST00000590712:exon6:c.G1008A:p.K336K;ENSG00000101746:ENST00000589544:exon6:c.G1056A:p.K352K;ENSG00000101746:ENST00000261592:exon6:c.G1056A:p.K352K;ENSG00000101746:ENST00000586553:exon2:c.G303A:p.K101K;ENSG00000101746:ENST00000269185:exon6:c.G714A:p.K238K;	0.999918442877043	0.994
18	31599283	T	A	18	34019319	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.A833T:p.K278M;NOL4:NM_003787:exon6:c.A1055T:p.K352M;NOL4:NM_001282527:exon7:c.A590T:p.K197M;NOL4:NM_001198549:exon2:c.A200T:p.K67M;NOL4:NM_001198548:exon6:c.A1055T:p.K352M;NOL4:NM_001198546:exon6:c.A1055T:p.K352M;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.A833T:p.K278M;ENSG00000101746:ENST00000535384:exon2:c.A200T:p.K67M;ENSG00000101746:ENST00000535475:exon7:c.A590T:p.K197M;ENSG00000101746:ENST00000590712:exon6:c.A1007T:p.K336M;ENSG00000101746:ENST00000589544:exon6:c.A1055T:p.K352M;ENSG00000101746:ENST00000261592:exon6:c.A1055T:p.K352M;ENSG00000101746:ENST00000586553:exon2:c.A302T:p.K101M;ENSG00000101746:ENST00000269185:exon6:c.A713T:p.K238M;	0.999457429238302	0.976
18	31599283	T	C	18	34019319	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.A833G:p.K278R;NOL4:NM_003787:exon6:c.A1055G:p.K352R;NOL4:NM_001282527:exon7:c.A590G:p.K197R;NOL4:NM_001198549:exon2:c.A200G:p.K67R;NOL4:NM_001198548:exon6:c.A1055G:p.K352R;NOL4:NM_001198546:exon6:c.A1055G:p.K352R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.A833G:p.K278R;ENSG00000101746:ENST00000535384:exon2:c.A200G:p.K67R;ENSG00000101746:ENST00000535475:exon7:c.A590G:p.K197R;ENSG00000101746:ENST00000590712:exon6:c.A1007G:p.K336R;ENSG00000101746:ENST00000589544:exon6:c.A1055G:p.K352R;ENSG00000101746:ENST00000261592:exon6:c.A1055G:p.K352R;ENSG00000101746:ENST00000586553:exon2:c.A302G:p.K101R;ENSG00000101746:ENST00000269185:exon6:c.A713G:p.K238R;	0.999517993480265	0.982
18	31599283	T	G	18	34019319	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.A833C:p.K278T;NOL4:NM_003787:exon6:c.A1055C:p.K352T;NOL4:NM_001282527:exon7:c.A590C:p.K197T;NOL4:NM_001198549:exon2:c.A200C:p.K67T;NOL4:NM_001198548:exon6:c.A1055C:p.K352T;NOL4:NM_001198546:exon6:c.A1055C:p.K352T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.A833C:p.K278T;ENSG00000101746:ENST00000535384:exon2:c.A200C:p.K67T;ENSG00000101746:ENST00000535475:exon7:c.A590C:p.K197T;ENSG00000101746:ENST00000590712:exon6:c.A1007C:p.K336T;ENSG00000101746:ENST00000589544:exon6:c.A1055C:p.K352T;ENSG00000101746:ENST00000261592:exon6:c.A1055C:p.K352T;ENSG00000101746:ENST00000586553:exon2:c.A302C:p.K101T;ENSG00000101746:ENST00000269185:exon6:c.A713C:p.K238T;	0.993413671349466	0.94
18	31599284	T	A	18	34019320	y	y	exonic	NOL4	stopgain SNV	NOL4:NM_001198547:exon6:c.A832T:p.K278X;NOL4:NM_003787:exon6:c.A1054T:p.K352X;NOL4:NM_001282527:exon7:c.A589T:p.K197X;NOL4:NM_001198549:exon2:c.A199T:p.K67X;NOL4:NM_001198548:exon6:c.A1054T:p.K352X;NOL4:NM_001198546:exon6:c.A1054T:p.K352X;	exonic	ENSG00000101746	stopgain SNV	ENSG00000101746:ENST00000538587:exon6:c.A832T:p.K278X;ENSG00000101746:ENST00000535384:exon2:c.A199T:p.K67X;ENSG00000101746:ENST00000535475:exon7:c.A589T:p.K197X;ENSG00000101746:ENST00000590712:exon6:c.A1006T:p.K336X;ENSG00000101746:ENST00000589544:exon6:c.A1054T:p.K352X;ENSG00000101746:ENST00000261592:exon6:c.A1054T:p.K352X;ENSG00000101746:ENST00000586553:exon2:c.A301T:p.K101X;ENSG00000101746:ENST00000269185:exon6:c.A712T:p.K238X;	0.988103858672668	0.69
18	31599284	T	C	18	34019320	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.A832G:p.K278E;NOL4:NM_003787:exon6:c.A1054G:p.K352E;NOL4:NM_001282527:exon7:c.A589G:p.K197E;NOL4:NM_001198549:exon2:c.A199G:p.K67E;NOL4:NM_001198548:exon6:c.A1054G:p.K352E;NOL4:NM_001198546:exon6:c.A1054G:p.K352E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.A832G:p.K278E;ENSG00000101746:ENST00000535384:exon2:c.A199G:p.K67E;ENSG00000101746:ENST00000535475:exon7:c.A589G:p.K197E;ENSG00000101746:ENST00000590712:exon6:c.A1006G:p.K336E;ENSG00000101746:ENST00000589544:exon6:c.A1054G:p.K352E;ENSG00000101746:ENST00000261592:exon6:c.A1054G:p.K352E;ENSG00000101746:ENST00000586553:exon2:c.A301G:p.K101E;ENSG00000101746:ENST00000269185:exon6:c.A712G:p.K238E;	0.00597630973034566	0.08
18	31599284	T	G	18	34019320	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.A832C:p.K278Q;NOL4:NM_003787:exon6:c.A1054C:p.K352Q;NOL4:NM_001282527:exon7:c.A589C:p.K197Q;NOL4:NM_001198549:exon2:c.A199C:p.K67Q;NOL4:NM_001198548:exon6:c.A1054C:p.K352Q;NOL4:NM_001198546:exon6:c.A1054C:p.K352Q;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.A832C:p.K278Q;ENSG00000101746:ENST00000535384:exon2:c.A199C:p.K67Q;ENSG00000101746:ENST00000535475:exon7:c.A589C:p.K197Q;ENSG00000101746:ENST00000590712:exon6:c.A1006C:p.K336Q;ENSG00000101746:ENST00000589544:exon6:c.A1054C:p.K352Q;ENSG00000101746:ENST00000261592:exon6:c.A1054C:p.K352Q;ENSG00000101746:ENST00000586553:exon2:c.A301C:p.K101Q;ENSG00000101746:ENST00000269185:exon6:c.A712C:p.K238Q;	0.7044093102475	0.54
18	31599564	A	C	18	34019600	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.T552G:p.D184E;NOL4:NM_003787:exon6:c.T774G:p.D258E;NOL4:NM_001282527:exon7:c.T309G:p.D103E;NOL4:NM_001198548:exon6:c.T774G:p.D258E;NOL4:NM_001198546:exon6:c.T774G:p.D258E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.T552G:p.D184E;ENSG00000101746:ENST00000535475:exon7:c.T309G:p.D103E;ENSG00000101746:ENST00000590712:exon6:c.T726G:p.D242E;ENSG00000101746:ENST00000589544:exon6:c.T774G:p.D258E;ENSG00000101746:ENST00000261592:exon6:c.T774G:p.D258E;ENSG00000101746:ENST00000586553:exon2:c.T21G:p.D7E;ENSG00000101746:ENST00000269185:exon6:c.T432G:p.D144E;	0.377929752538068	0.35
18	31599564	A	G	18	34019600	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon6:c.T552C:p.D184D;NOL4:NM_003787:exon6:c.T774C:p.D258D;NOL4:NM_001282527:exon7:c.T309C:p.D103D;NOL4:NM_001198548:exon6:c.T774C:p.D258D;NOL4:NM_001198546:exon6:c.T774C:p.D258D;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.T552C:p.D184D;ENSG00000101746:ENST00000535475:exon7:c.T309C:p.D103D;ENSG00000101746:ENST00000590712:exon6:c.T726C:p.D242D;ENSG00000101746:ENST00000589544:exon6:c.T774C:p.D258D;ENSG00000101746:ENST00000261592:exon6:c.T774C:p.D258D;ENSG00000101746:ENST00000586553:exon2:c.T21C:p.D7D;ENSG00000101746:ENST00000269185:exon6:c.T432C:p.D144D;	0.0571744917726271	0.218
18	31599564	A	T	18	34019600	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.T552A:p.D184E;NOL4:NM_003787:exon6:c.T774A:p.D258E;NOL4:NM_001282527:exon7:c.T309A:p.D103E;NOL4:NM_001198548:exon6:c.T774A:p.D258E;NOL4:NM_001198546:exon6:c.T774A:p.D258E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.T552A:p.D184E;ENSG00000101746:ENST00000535475:exon7:c.T309A:p.D103E;ENSG00000101746:ENST00000590712:exon6:c.T726A:p.D242E;ENSG00000101746:ENST00000589544:exon6:c.T774A:p.D258E;ENSG00000101746:ENST00000261592:exon6:c.T774A:p.D258E;ENSG00000101746:ENST00000586553:exon2:c.T21A:p.D7E;ENSG00000101746:ENST00000269185:exon6:c.T432A:p.D144E;	0.708125936424942	0.352
18	31599565	T	A	18	34019601	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.A551T:p.D184V;NOL4:NM_003787:exon6:c.A773T:p.D258V;NOL4:NM_001282527:exon7:c.A308T:p.D103V;NOL4:NM_001198548:exon6:c.A773T:p.D258V;NOL4:NM_001198546:exon6:c.A773T:p.D258V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.A551T:p.D184V;ENSG00000101746:ENST00000535475:exon7:c.A308T:p.D103V;ENSG00000101746:ENST00000590712:exon6:c.A725T:p.D242V;ENSG00000101746:ENST00000589544:exon6:c.A773T:p.D258V;ENSG00000101746:ENST00000261592:exon6:c.A773T:p.D258V;ENSG00000101746:ENST00000586553:exon2:c.A20T:p.D7V;ENSG00000101746:ENST00000269185:exon6:c.A431T:p.D144V;	0.55833495712883	0.464
18	31599565	T	C	18	34019601	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.A551G:p.D184G;NOL4:NM_003787:exon6:c.A773G:p.D258G;NOL4:NM_001282527:exon7:c.A308G:p.D103G;NOL4:NM_001198548:exon6:c.A773G:p.D258G;NOL4:NM_001198546:exon6:c.A773G:p.D258G;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.A551G:p.D184G;ENSG00000101746:ENST00000535475:exon7:c.A308G:p.D103G;ENSG00000101746:ENST00000590712:exon6:c.A725G:p.D242G;ENSG00000101746:ENST00000589544:exon6:c.A773G:p.D258G;ENSG00000101746:ENST00000261592:exon6:c.A773G:p.D258G;ENSG00000101746:ENST00000586553:exon2:c.A20G:p.D7G;ENSG00000101746:ENST00000269185:exon6:c.A431G:p.D144G;	0.131697378945479	0.46
18	31599565	T	G	18	34019601	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon6:c.A551C:p.D184A;NOL4:NM_003787:exon6:c.A773C:p.D258A;NOL4:NM_001282527:exon7:c.A308C:p.D103A;NOL4:NM_001198548:exon6:c.A773C:p.D258A;NOL4:NM_001198546:exon6:c.A773C:p.D258A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon6:c.A551C:p.D184A;ENSG00000101746:ENST00000535475:exon7:c.A308C:p.D103A;ENSG00000101746:ENST00000590712:exon6:c.A725C:p.D242A;ENSG00000101746:ENST00000589544:exon6:c.A773C:p.D258A;ENSG00000101746:ENST00000261592:exon6:c.A773C:p.D258A;ENSG00000101746:ENST00000586553:exon2:c.A20C:p.D7A;ENSG00000101746:ENST00000269185:exon6:c.A431C:p.D144A;	0.732646517483529	0.494
18	31599566	C	A	18	34019602	y	y	splicing	NOL4(NM_003787:exon7:c.773-1G>T;NM_001282527:exon8:c.308-1G>T;NM_001198548:exon7:c.773-1G>T;NM_001198547:exon7:c.551-1G>T;NM_001198546:exon7:c.773-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.773-1G>T;ENST00000269185:exon7:c.431-1G>T;ENST00000535475:exon8:c.308-1G>T;ENST00000589544:exon7:c.773-1G>T;ENST00000586314:exon8:c.592-1G>T;ENST00000590712:exon7:c.725-1G>T;ENST00000538587:exon7:c.551-1G>T;ENST00000586553:exon3:c.20-1G>T)	.	.	0.999985532734767	0.936
18	31599566	C	G	18	34019602	y	y	splicing	NOL4(NM_003787:exon7:c.773-1G>C;NM_001282527:exon8:c.308-1G>C;NM_001198548:exon7:c.773-1G>C;NM_001198547:exon7:c.551-1G>C;NM_001198546:exon7:c.773-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.773-1G>C;ENST00000269185:exon7:c.431-1G>C;ENST00000535475:exon8:c.308-1G>C;ENST00000589544:exon7:c.773-1G>C;ENST00000586314:exon8:c.592-1G>C;ENST00000590712:exon7:c.725-1G>C;ENST00000538587:exon7:c.551-1G>C;ENST00000586553:exon3:c.20-1G>C)	.	.	0.999985532734767	0.936
18	31599566	C	T	18	34019602	y	y	splicing	NOL4(NM_003787:exon7:c.773-1G>A;NM_001282527:exon8:c.308-1G>A;NM_001198548:exon7:c.773-1G>A;NM_001198547:exon7:c.551-1G>A;NM_001198546:exon7:c.773-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.773-1G>A;ENST00000269185:exon7:c.431-1G>A;ENST00000535475:exon8:c.308-1G>A;ENST00000589544:exon7:c.773-1G>A;ENST00000586314:exon8:c.592-1G>A;ENST00000590712:exon7:c.725-1G>A;ENST00000538587:exon7:c.551-1G>A;ENST00000586553:exon3:c.20-1G>A)	.	.	0.999985532734767	0.936
18	31599567	T	A	18	34019603	y	y	splicing	NOL4(NM_003787:exon7:c.773-2A>T;NM_001282527:exon8:c.308-2A>T;NM_001198548:exon7:c.773-2A>T;NM_001198547:exon7:c.551-2A>T;NM_001198546:exon7:c.773-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.773-2A>T;ENST00000269185:exon7:c.431-2A>T;ENST00000535475:exon8:c.308-2A>T;ENST00000589544:exon7:c.773-2A>T;ENST00000586314:exon8:c.592-2A>T;ENST00000590712:exon7:c.725-2A>T;ENST00000538587:exon7:c.551-2A>T;ENST00000586553:exon3:c.20-2A>T)	.	.	0.999988247793601	0.928
18	31599567	T	C	18	34019603	y	y	splicing	NOL4(NM_003787:exon7:c.773-2A>G;NM_001282527:exon8:c.308-2A>G;NM_001198548:exon7:c.773-2A>G;NM_001198547:exon7:c.551-2A>G;NM_001198546:exon7:c.773-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.773-2A>G;ENST00000269185:exon7:c.431-2A>G;ENST00000535475:exon8:c.308-2A>G;ENST00000589544:exon7:c.773-2A>G;ENST00000586314:exon8:c.592-2A>G;ENST00000590712:exon7:c.725-2A>G;ENST00000538587:exon7:c.551-2A>G;ENST00000586553:exon3:c.20-2A>G)	.	.	0.999988247793601	0.928
18	31599567	T	G	18	34019603	y	y	splicing	NOL4(NM_003787:exon7:c.773-2A>C;NM_001282527:exon8:c.308-2A>C;NM_001198548:exon7:c.773-2A>C;NM_001198547:exon7:c.551-2A>C;NM_001198546:exon7:c.773-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon7:c.773-2A>C;ENST00000269185:exon7:c.431-2A>C;ENST00000535475:exon8:c.308-2A>C;ENST00000589544:exon7:c.773-2A>C;ENST00000586314:exon8:c.592-2A>C;ENST00000590712:exon7:c.725-2A>C;ENST00000538587:exon7:c.551-2A>C;ENST00000586553:exon3:c.20-2A>C)	.	.	0.999988247793601	0.928
18	31599568	G	A	18	34019604	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0758689363659097	0.084
18	31599568	G	C	18	34019604	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999850446787449	0.964
18	31599568	G	T	18	34019604	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999695091703485	0.9
18	31599569	T	A	18	34019605	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0377625648952642	0.188
18	31599569	T	C	18	34019605	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.94770122375928	0.572
18	31599569	T	G	18	34019605	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00351876342736341	0.04
18	31599570	T	A	18	34019606	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.94521743584437E-5	0.014
18	31599570	T	C	18	34019606	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.53972817361235E-4	0.0
18	31599570	T	G	18	34019606	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.73101750865232E-5	0.0
18	31599571	G	A	18	34019607	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.54215424234892E-4	0.006
18	31599571	G	C	18	34019607	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00126055341292838	0.142
18	31599571	G	T	18	34019607	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00151088045226492	0.102
18	31599572	G	A	18	34019608	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.10140932788585E-4	0.108
18	31599572	G	C	18	34019608	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0183497172878601	0.118
18	31599572	G	T	18	34019608	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0178131654511938	0.126
18	31599573	A	C	18	34019609	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.64307587170389E-4	0.07
18	31599573	A	G	18	34019609	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.09031948967764E-5	0.0
18	31599573	A	T	18	34019609	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.72011646574975E-4	0.026
18	31599574	A	C	18	34019610	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0729094909898641	0.18
18	31599574	A	G	18	34019610	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00451554616467067	0.042
18	31599574	A	T	18	34019610	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0524719650411459	0.268
18	31599575	A	C	18	34019611	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.618976674216432	0.554
18	31599575	A	G	18	34019611	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0526360847722959	0.364
18	31599575	A	T	18	34019611	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.904832010786122	0.606
18	31599576	G	A	18	34019612	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.65517939929484E-5	0.0
18	31599576	G	C	18	34019612	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.34892679922499E-4	0.06
18	31599576	G	T	18	34019612	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.12557577417923E-4	0.088
18	31599577	G	A	18	34019613	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.18288270988664E-4	0.024
18	31599577	G	C	18	34019613	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00158671844421631	0.114
18	31599577	G	T	18	34019613	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00305445696958925	0.122
18	31603396	T	A	18	34023432	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.49702646665041E-5	0.006
18	31603396	T	C	18	34023432	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.65795620549115E-5	0.006
18	31603396	T	G	18	34023432	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.49702646665041E-5	0.01
18	31603397	T	A	18	34023433	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.39826558468951E-5	0.014
18	31603397	T	C	18	34023433	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.39826558468951E-5	0.016
18	31603397	T	G	18	34023433	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.39826558468951E-5	0.014
18	31603398	C	A	18	34023434	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.00961143325455E-4	0.004
18	31603398	C	G	18	34023434	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.74088084155096E-5	0.004
18	31603398	C	T	18	34023434	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.51591174045998E-4	0.006
18	31603399	C	A	18	34023435	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0203041913402469	0.058
18	31603399	C	G	18	34023435	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0203041913402469	0.052
18	31603399	C	T	18	34023435	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0343998936554931	0.056
18	31603400	T	A	18	34023436	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0126869538811265	0.028
18	31603400	T	C	18	34023436	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0105600235457959	0.028
18	31603400	T	G	18	34023436	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0105600235457959	0.028
18	31603401	T	A	18	34023437	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0126869538811265	0.026
18	31603401	T	C	18	34023437	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.012179125450082	0.024
18	31603401	T	G	18	34023437	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.012179125450082	0.024
18	31603402	A	C	18	34023438	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586553:exon2:c.19+2T>G)	.	.	0.00712145416375606	0.032
18	31603402	A	G	18	34023438	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586553:exon2:c.19+2T>C)	.	.	0.00712145416375606	0.042
18	31603402	A	T	18	34023438	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586553:exon2:c.19+2T>A)	.	.	0.0105600235457959	0.024
18	31603403	C	A	18	34023439	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586553:exon2:c.19+1G>T)	.	.	0.0181969847446306	0.052
18	31603403	C	G	18	34023439	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586553:exon2:c.19+1G>C)	.	.	0.0181969847446306	0.044
18	31603403	C	T	18	34023439	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586553:exon2:c.19+1G>A)	.	.	0.0181969847446306	0.046
18	31603404	C	A	18	34023440	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586553:exon1:c.G19T:p.D7Y;	0.00167961607711839	0.068
18	31603404	C	G	18	34023440	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586553:exon1:c.G19C:p.D7H;	0.00122776261611814	0.082
18	31603404	C	T	18	34023440	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586553:exon1:c.G19A:p.D7N;	0.00165246715192003	0.066
18	31603405	C	A	18	34023441	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586553:exon1:c.G18T:p.L6F;	2.12967705479703E-5	0.0
18	31603405	C	G	18	34023441	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586553:exon1:c.G18C:p.L6F;	2.05567792764038E-5	0.0
18	31603405	C	T	18	34023441	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000586553:exon1:c.G18A:p.L6L;	2.12967705479703E-5	0.0
18	31603406	A	C	18	34023442	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586553:exon1:c.T17G:p.L6W;	8.35697579118787E-5	0.0
18	31603406	A	G	18	34023442	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586553:exon1:c.T17C:p.L6S;	8.35697579118787E-5	0.0
18	31603406	A	T	18	34023442	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	stopgain SNV	ENSG00000101746:ENST00000586553:exon1:c.T17A:p.L6X;	8.65778582306901E-5	0.0
18	31628395	A	C	18	34048431	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.63338486537357E-4	0.026
18	31628395	A	G	18	34048431	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.63338486537357E-4	0.026
18	31628395	A	T	18	34048431	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.28660734782273E-4	0.032
18	31628396	C	A	18	34048432	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00507812376669703	0.046
18	31628396	C	G	18	34048432	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00296047452933948	0.05
18	31628396	C	T	18	34048432	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00439883050586627	0.044
18	31628397	A	C	18	34048433	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0255974694697583	0.092
18	31628397	A	G	18	34048433	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0255974694697583	0.09
18	31628397	A	T	18	34048433	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0305896901318045	0.166
18	31628398	C	A	18	34048434	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.042740114834783	0.086
18	31628398	C	G	18	34048434	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.042740114834783	0.084
18	31628398	C	T	18	34048434	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.064779472259659	0.106
18	31628399	T	A	18	34048435	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0305896901318045	0.162
18	31628399	T	C	18	34048435	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0255974694697583	0.06
18	31628399	T	G	18	34048435	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0255974694697583	0.076
18	31628400	T	A	18	34048436	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0305896901318045	0.16
18	31628400	T	C	18	34048436	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0255974694697583	0.06
18	31628400	T	G	18	34048436	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0255974694697583	0.064
18	31628401	A	C	18	34048437	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746	.	.	0.92961721136914	0.802
18	31628401	A	G	18	34048437	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746	.	.	0.92961721136914	0.8
18	31628401	A	T	18	34048437	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746	.	.	0.92961721136914	0.804
18	31628402	C	A	18	34048438	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746	.	.	0.993733916693694	0.87
18	31628402	C	G	18	34048438	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746	.	.	0.993733916693694	0.874
18	31628402	C	T	18	34048438	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746	.	.	0.993733916693694	0.866
18	31628403	T	A	18	34048439	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	0.00133757912346677	0.008
18	31628403	T	C	18	34048439	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	7.15838005414123E-4	0.004
18	31628403	T	G	18	34048439	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	7.15838005414123E-4	0.004
18	31628404	G	A	18	34048440	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	0.042740114834783	0.064
18	31628404	G	C	18	34048440	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	0.0357573328857635	0.06
18	31628404	G	T	18	34048440	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	0.042740114834783	0.062
18	31628405	T	A	18	34048441	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	2.17503189594235E-4	0.004
18	31628405	T	C	18	34048441	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	2.40455273620508E-4	0.004
18	31628405	T	G	18	34048441	y	y	UTR5	NOL4	.	.	UTR5	ENSG00000101746	.	.	2.40455273620508E-4	0.004
18	31673421	A	C	18	34093457	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.23111026084495E-4	0.002
18	31673421	A	G	18	34093457	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00167735548594091	0.004
18	31673421	A	T	18	34093457	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.13516392517987E-4	0.006
18	31673422	G	A	18	34093458	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.92428497421039E-4	0.01
18	31673422	G	C	18	34093458	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.98884105207431E-4	0.02
18	31673422	G	T	18	34093458	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00135941915662159	0.028
18	31673423	G	A	18	34093459	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.13715844225153E-4	0.002
18	31673423	G	C	18	34093459	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.60137143560601E-4	0.03
18	31673423	G	T	18	34093459	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.14673959922667E-4	0.036
18	31673424	C	A	18	34093460	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.997882257101766	0.832
18	31673424	C	G	18	34093460	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999435141323771	0.974
18	31673424	C	T	18	34093460	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998823517392528	0.838
18	31673425	T	A	18	34093461	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99713298170742	0.906
18	31673425	T	C	18	34093461	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.995396100798254	0.844
18	31673425	T	G	18	34093461	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.997546713070078	0.878
18	31673426	T	A	18	34093462	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999133175171401	0.964
18	31673426	T	C	18	34093462	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.948456116488293	0.372
18	31673426	T	G	18	34093462	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998700165047946	0.968
18	31673427	A	C	18	34093463	y	y	splicing	NOL4(NM_003787:exon6:c.772+2T>G;NM_001282527:exon7:c.307+2T>G;NM_001198548:exon6:c.772+2T>G;NM_001198547:exon6:c.550+2T>G;NM_001198546:exon6:c.772+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.772+2T>G;ENST00000269185:exon6:c.430+2T>G;ENST00000535475:exon7:c.307+2T>G;ENST00000589544:exon6:c.772+2T>G;ENST00000586314:exon7:c.591+2T>G;ENST00000590712:exon6:c.724+2T>G;ENST00000538587:exon6:c.550+2T>G)	.	.	0.999992446697775	0.926
18	31673427	A	G	18	34093463	y	y	splicing	NOL4(NM_003787:exon6:c.772+2T>C;NM_001282527:exon7:c.307+2T>C;NM_001198548:exon6:c.772+2T>C;NM_001198547:exon6:c.550+2T>C;NM_001198546:exon6:c.772+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.772+2T>C;ENST00000269185:exon6:c.430+2T>C;ENST00000535475:exon7:c.307+2T>C;ENST00000589544:exon6:c.772+2T>C;ENST00000586314:exon7:c.591+2T>C;ENST00000590712:exon6:c.724+2T>C;ENST00000538587:exon6:c.550+2T>C)	.	.	0.999924967059161	0.872
18	31673427	A	T	18	34093463	y	y	splicing	NOL4(NM_003787:exon6:c.772+2T>A;NM_001282527:exon7:c.307+2T>A;NM_001198548:exon6:c.772+2T>A;NM_001198547:exon6:c.550+2T>A;NM_001198546:exon6:c.772+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.772+2T>A;ENST00000269185:exon6:c.430+2T>A;ENST00000535475:exon7:c.307+2T>A;ENST00000589544:exon6:c.772+2T>A;ENST00000586314:exon7:c.591+2T>A;ENST00000590712:exon6:c.724+2T>A;ENST00000538587:exon6:c.550+2T>A)	.	.	0.999992446697775	0.928
18	31673428	C	A	18	34093464	y	y	splicing	NOL4(NM_003787:exon6:c.772+1G>T;NM_001282527:exon7:c.307+1G>T;NM_001198548:exon6:c.772+1G>T;NM_001198547:exon6:c.550+1G>T;NM_001198546:exon6:c.772+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.772+1G>T;ENST00000269185:exon6:c.430+1G>T;ENST00000535475:exon7:c.307+1G>T;ENST00000589544:exon6:c.772+1G>T;ENST00000586314:exon7:c.591+1G>T;ENST00000590712:exon6:c.724+1G>T;ENST00000538587:exon6:c.550+1G>T)	.	.	0.999988247793601	0.926
18	31673428	C	G	18	34093464	y	y	splicing	NOL4(NM_003787:exon6:c.772+1G>C;NM_001282527:exon7:c.307+1G>C;NM_001198548:exon6:c.772+1G>C;NM_001198547:exon6:c.550+1G>C;NM_001198546:exon6:c.772+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.772+1G>C;ENST00000269185:exon6:c.430+1G>C;ENST00000535475:exon7:c.307+1G>C;ENST00000589544:exon6:c.772+1G>C;ENST00000586314:exon7:c.591+1G>C;ENST00000590712:exon6:c.724+1G>C;ENST00000538587:exon6:c.550+1G>C)	.	.	0.999988247793601	0.926
18	31673428	C	T	18	34093464	y	y	splicing	NOL4(NM_003787:exon6:c.772+1G>A;NM_001282527:exon7:c.307+1G>A;NM_001198548:exon6:c.772+1G>A;NM_001198547:exon6:c.550+1G>A;NM_001198546:exon6:c.772+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.772+1G>A;ENST00000269185:exon6:c.430+1G>A;ENST00000535475:exon7:c.307+1G>A;ENST00000589544:exon6:c.772+1G>A;ENST00000586314:exon7:c.591+1G>A;ENST00000590712:exon6:c.724+1G>A;ENST00000538587:exon6:c.550+1G>A)	.	.	0.999988247793601	0.926
18	31673429	C	A	18	34093465	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.G550T:p.D184Y;NOL4:NM_003787:exon5:c.G772T:p.D258Y;NOL4:NM_001282527:exon6:c.G307T:p.D103Y;NOL4:NM_001198548:exon5:c.G772T:p.D258Y;NOL4:NM_001198546:exon5:c.G772T:p.D258Y;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.G550T:p.D184Y;ENSG00000101746:ENST00000535475:exon6:c.G307T:p.D103Y;ENSG00000101746:ENST00000590712:exon5:c.G724T:p.D242Y;ENSG00000101746:ENST00000589544:exon5:c.G772T:p.D258Y;ENSG00000101746:ENST00000261592:exon5:c.G772T:p.D258Y;ENSG00000101746:ENST00000269185:exon5:c.G430T:p.D144Y;	0.9999845711442	0.998
18	31673429	C	G	18	34093465	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.G550C:p.D184H;NOL4:NM_003787:exon5:c.G772C:p.D258H;NOL4:NM_001282527:exon6:c.G307C:p.D103H;NOL4:NM_001198548:exon5:c.G772C:p.D258H;NOL4:NM_001198546:exon5:c.G772C:p.D258H;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.G550C:p.D184H;ENSG00000101746:ENST00000535475:exon6:c.G307C:p.D103H;ENSG00000101746:ENST00000590712:exon5:c.G724C:p.D242H;ENSG00000101746:ENST00000589544:exon5:c.G772C:p.D258H;ENSG00000101746:ENST00000261592:exon5:c.G772C:p.D258H;ENSG00000101746:ENST00000269185:exon5:c.G430C:p.D144H;	0.999991181877631	0.988
18	31673429	C	T	18	34093465	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.G550A:p.D184N;NOL4:NM_003787:exon5:c.G772A:p.D258N;NOL4:NM_001282527:exon6:c.G307A:p.D103N;NOL4:NM_001198548:exon5:c.G772A:p.D258N;NOL4:NM_001198546:exon5:c.G772A:p.D258N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.G550A:p.D184N;ENSG00000101746:ENST00000535475:exon6:c.G307A:p.D103N;ENSG00000101746:ENST00000590712:exon5:c.G724A:p.D242N;ENSG00000101746:ENST00000589544:exon5:c.G772A:p.D258N;ENSG00000101746:ENST00000261592:exon5:c.G772A:p.D258N;ENSG00000101746:ENST00000269185:exon5:c.G430A:p.D144N;	0.999973422898426	0.998
18	31673430	A	C	18	34093466	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.T549G:p.D183E;NOL4:NM_003787:exon5:c.T771G:p.D257E;NOL4:NM_001282527:exon6:c.T306G:p.D102E;NOL4:NM_001198548:exon5:c.T771G:p.D257E;NOL4:NM_001198546:exon5:c.T771G:p.D257E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.T549G:p.D183E;ENSG00000101746:ENST00000535475:exon6:c.T306G:p.D102E;ENSG00000101746:ENST00000590712:exon5:c.T723G:p.D241E;ENSG00000101746:ENST00000589544:exon5:c.T771G:p.D257E;ENSG00000101746:ENST00000261592:exon5:c.T771G:p.D257E;ENSG00000101746:ENST00000269185:exon5:c.T429G:p.D143E;	0.00104886447927342	0.05
18	31673430	A	G	18	34093466	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon5:c.T549C:p.D183D;NOL4:NM_003787:exon5:c.T771C:p.D257D;NOL4:NM_001282527:exon6:c.T306C:p.D102D;NOL4:NM_001198548:exon5:c.T771C:p.D257D;NOL4:NM_001198546:exon5:c.T771C:p.D257D;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.T549C:p.D183D;ENSG00000101746:ENST00000535475:exon6:c.T306C:p.D102D;ENSG00000101746:ENST00000590712:exon5:c.T723C:p.D241D;ENSG00000101746:ENST00000589544:exon5:c.T771C:p.D257D;ENSG00000101746:ENST00000261592:exon5:c.T771C:p.D257D;ENSG00000101746:ENST00000269185:exon5:c.T429C:p.D143D;	9.23747525231562E-5	0.018
18	31673430	A	T	18	34093466	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.T549A:p.D183E;NOL4:NM_003787:exon5:c.T771A:p.D257E;NOL4:NM_001282527:exon6:c.T306A:p.D102E;NOL4:NM_001198548:exon5:c.T771A:p.D257E;NOL4:NM_001198546:exon5:c.T771A:p.D257E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.T549A:p.D183E;ENSG00000101746:ENST00000535475:exon6:c.T306A:p.D102E;ENSG00000101746:ENST00000590712:exon5:c.T723A:p.D241E;ENSG00000101746:ENST00000589544:exon5:c.T771A:p.D257E;ENSG00000101746:ENST00000261592:exon5:c.T771A:p.D257E;ENSG00000101746:ENST00000269185:exon5:c.T429A:p.D143E;	3.2672276458912E-4	0.132
18	31673431	T	A	18	34093467	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.A548T:p.D183V;NOL4:NM_003787:exon5:c.A770T:p.D257V;NOL4:NM_001282527:exon6:c.A305T:p.D102V;NOL4:NM_001198548:exon5:c.A770T:p.D257V;NOL4:NM_001198546:exon5:c.A770T:p.D257V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.A548T:p.D183V;ENSG00000101746:ENST00000535475:exon6:c.A305T:p.D102V;ENSG00000101746:ENST00000590712:exon5:c.A722T:p.D241V;ENSG00000101746:ENST00000589544:exon5:c.A770T:p.D257V;ENSG00000101746:ENST00000261592:exon5:c.A770T:p.D257V;ENSG00000101746:ENST00000269185:exon5:c.A428T:p.D143V;	0.868129856769708	0.466
18	31673431	T	C	18	34093467	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.A548G:p.D183G;NOL4:NM_003787:exon5:c.A770G:p.D257G;NOL4:NM_001282527:exon6:c.A305G:p.D102G;NOL4:NM_001198548:exon5:c.A770G:p.D257G;NOL4:NM_001198546:exon5:c.A770G:p.D257G;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.A548G:p.D183G;ENSG00000101746:ENST00000535475:exon6:c.A305G:p.D102G;ENSG00000101746:ENST00000590712:exon5:c.A722G:p.D241G;ENSG00000101746:ENST00000589544:exon5:c.A770G:p.D257G;ENSG00000101746:ENST00000261592:exon5:c.A770G:p.D257G;ENSG00000101746:ENST00000269185:exon5:c.A428G:p.D143G;	0.12370056962486	0.376
18	31673431	T	G	18	34093467	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.A548C:p.D183A;NOL4:NM_003787:exon5:c.A770C:p.D257A;NOL4:NM_001282527:exon6:c.A305C:p.D102A;NOL4:NM_001198548:exon5:c.A770C:p.D257A;NOL4:NM_001198546:exon5:c.A770C:p.D257A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.A548C:p.D183A;ENSG00000101746:ENST00000535475:exon6:c.A305C:p.D102A;ENSG00000101746:ENST00000590712:exon5:c.A722C:p.D241A;ENSG00000101746:ENST00000589544:exon5:c.A770C:p.D257A;ENSG00000101746:ENST00000261592:exon5:c.A770C:p.D257A;ENSG00000101746:ENST00000269185:exon5:c.A428C:p.D143A;	0.62923030365513	0.466
18	31673560	T	A	18	34093596	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.A419T:p.D140V;NOL4:NM_003787:exon5:c.A641T:p.D214V;NOL4:NM_001282527:exon6:c.A176T:p.D59V;NOL4:NM_001198548:exon5:c.A641T:p.D214V;NOL4:NM_001198546:exon5:c.A641T:p.D214V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.A419T:p.D140V;ENSG00000101746:ENST00000535475:exon6:c.A176T:p.D59V;ENSG00000101746:ENST00000590712:exon5:c.A593T:p.D198V;ENSG00000101746:ENST00000589544:exon5:c.A641T:p.D214V;ENSG00000101746:ENST00000261592:exon5:c.A641T:p.D214V;ENSG00000101746:ENST00000269185:exon5:c.A299T:p.D100V;	0.732980321661096	0.696
18	31673560	T	C	18	34093596	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.A419G:p.D140G;NOL4:NM_003787:exon5:c.A641G:p.D214G;NOL4:NM_001282527:exon6:c.A176G:p.D59G;NOL4:NM_001198548:exon5:c.A641G:p.D214G;NOL4:NM_001198546:exon5:c.A641G:p.D214G;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.A419G:p.D140G;ENSG00000101746:ENST00000535475:exon6:c.A176G:p.D59G;ENSG00000101746:ENST00000590712:exon5:c.A593G:p.D198G;ENSG00000101746:ENST00000589544:exon5:c.A641G:p.D214G;ENSG00000101746:ENST00000261592:exon5:c.A641G:p.D214G;ENSG00000101746:ENST00000269185:exon5:c.A299G:p.D100G;	0.819577916569145	0.706
18	31673560	T	G	18	34093596	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.A419C:p.D140A;NOL4:NM_003787:exon5:c.A641C:p.D214A;NOL4:NM_001282527:exon6:c.A176C:p.D59A;NOL4:NM_001198548:exon5:c.A641C:p.D214A;NOL4:NM_001198546:exon5:c.A641C:p.D214A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.A419C:p.D140A;ENSG00000101746:ENST00000535475:exon6:c.A176C:p.D59A;ENSG00000101746:ENST00000590712:exon5:c.A593C:p.D198A;ENSG00000101746:ENST00000589544:exon5:c.A641C:p.D214A;ENSG00000101746:ENST00000261592:exon5:c.A641C:p.D214A;ENSG00000101746:ENST00000269185:exon5:c.A299C:p.D100A;	0.837005510612391	0.708
18	31673561	C	A	18	34093597	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.G418T:p.D140Y;NOL4:NM_003787:exon5:c.G640T:p.D214Y;NOL4:NM_001282527:exon6:c.G175T:p.D59Y;NOL4:NM_001198548:exon5:c.G640T:p.D214Y;NOL4:NM_001198546:exon5:c.G640T:p.D214Y;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.G418T:p.D140Y;ENSG00000101746:ENST00000535475:exon6:c.G175T:p.D59Y;ENSG00000101746:ENST00000590712:exon5:c.G592T:p.D198Y;ENSG00000101746:ENST00000589544:exon5:c.G640T:p.D214Y;ENSG00000101746:ENST00000261592:exon5:c.G640T:p.D214Y;ENSG00000101746:ENST00000269185:exon5:c.G298T:p.D100Y;	0.999920969396132	0.998
18	31673561	C	G	18	34093597	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.G418C:p.D140H;NOL4:NM_003787:exon5:c.G640C:p.D214H;NOL4:NM_001282527:exon6:c.G175C:p.D59H;NOL4:NM_001198548:exon5:c.G640C:p.D214H;NOL4:NM_001198546:exon5:c.G640C:p.D214H;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.G418C:p.D140H;ENSG00000101746:ENST00000535475:exon6:c.G175C:p.D59H;ENSG00000101746:ENST00000590712:exon5:c.G592C:p.D198H;ENSG00000101746:ENST00000589544:exon5:c.G640C:p.D214H;ENSG00000101746:ENST00000261592:exon5:c.G640C:p.D214H;ENSG00000101746:ENST00000269185:exon5:c.G298C:p.D100H;	0.999775389960679	0.982
18	31673561	C	T	18	34093597	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon5:c.G418A:p.D140N;NOL4:NM_003787:exon5:c.G640A:p.D214N;NOL4:NM_001282527:exon6:c.G175A:p.D59N;NOL4:NM_001198548:exon5:c.G640A:p.D214N;NOL4:NM_001198546:exon5:c.G640A:p.D214N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon5:c.G418A:p.D140N;ENSG00000101746:ENST00000535475:exon6:c.G175A:p.D59N;ENSG00000101746:ENST00000590712:exon5:c.G592A:p.D198N;ENSG00000101746:ENST00000589544:exon5:c.G640A:p.D214N;ENSG00000101746:ENST00000261592:exon5:c.G640A:p.D214N;ENSG00000101746:ENST00000269185:exon5:c.G298A:p.D100N;	0.999905906633755	0.942
18	31673562	C	A	18	34093598	y	y	splicing	NOL4(NM_003787:exon6:c.640-1G>T;NM_001282527:exon7:c.175-1G>T;NM_001198548:exon6:c.640-1G>T;NM_001198547:exon6:c.418-1G>T;NM_001198546:exon6:c.640-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.640-1G>T;ENST00000269185:exon6:c.298-1G>T;ENST00000535475:exon7:c.175-1G>T;ENST00000589544:exon6:c.640-1G>T;ENST00000586314:exon7:c.459-1G>T;ENST00000590712:exon6:c.592-1G>T;ENST00000538587:exon6:c.418-1G>T)	.	.	0.999990764389106	0.926
18	31673562	C	G	18	34093598	y	y	splicing	NOL4(NM_003787:exon6:c.640-1G>C;NM_001282527:exon7:c.175-1G>C;NM_001198548:exon6:c.640-1G>C;NM_001198547:exon6:c.418-1G>C;NM_001198546:exon6:c.640-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.640-1G>C;ENST00000269185:exon6:c.298-1G>C;ENST00000535475:exon7:c.175-1G>C;ENST00000589544:exon6:c.640-1G>C;ENST00000586314:exon7:c.459-1G>C;ENST00000590712:exon6:c.592-1G>C;ENST00000538587:exon6:c.418-1G>C)	.	.	0.999990764389106	0.926
18	31673562	C	T	18	34093598	y	y	splicing	NOL4(NM_003787:exon6:c.640-1G>A;NM_001282527:exon7:c.175-1G>A;NM_001198548:exon6:c.640-1G>A;NM_001198547:exon6:c.418-1G>A;NM_001198546:exon6:c.640-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.640-1G>A;ENST00000269185:exon6:c.298-1G>A;ENST00000535475:exon7:c.175-1G>A;ENST00000589544:exon6:c.640-1G>A;ENST00000586314:exon7:c.459-1G>A;ENST00000590712:exon6:c.592-1G>A;ENST00000538587:exon6:c.418-1G>A)	.	.	0.999990764389106	0.926
18	31673563	T	A	18	34093599	y	y	splicing	NOL4(NM_003787:exon6:c.640-2A>T;NM_001282527:exon7:c.175-2A>T;NM_001198548:exon6:c.640-2A>T;NM_001198547:exon6:c.418-2A>T;NM_001198546:exon6:c.640-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.640-2A>T;ENST00000269185:exon6:c.298-2A>T;ENST00000535475:exon7:c.175-2A>T;ENST00000589544:exon6:c.640-2A>T;ENST00000586314:exon7:c.459-2A>T;ENST00000590712:exon6:c.592-2A>T;ENST00000538587:exon6:c.418-2A>T)	.	.	0.999994064153128	0.93
18	31673563	T	C	18	34093599	y	y	splicing	NOL4(NM_003787:exon6:c.640-2A>G;NM_001282527:exon7:c.175-2A>G;NM_001198548:exon6:c.640-2A>G;NM_001198547:exon6:c.418-2A>G;NM_001198546:exon6:c.640-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.640-2A>G;ENST00000269185:exon6:c.298-2A>G;ENST00000535475:exon7:c.175-2A>G;ENST00000589544:exon6:c.640-2A>G;ENST00000586314:exon7:c.459-2A>G;ENST00000590712:exon6:c.592-2A>G;ENST00000538587:exon6:c.418-2A>G)	.	.	0.999994064153128	0.93
18	31673563	T	G	18	34093599	y	y	splicing	NOL4(NM_003787:exon6:c.640-2A>C;NM_001282527:exon7:c.175-2A>C;NM_001198548:exon6:c.640-2A>C;NM_001198547:exon6:c.418-2A>C;NM_001198546:exon6:c.640-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon6:c.640-2A>C;ENST00000269185:exon6:c.298-2A>C;ENST00000535475:exon7:c.175-2A>C;ENST00000589544:exon6:c.640-2A>C;ENST00000586314:exon7:c.459-2A>C;ENST00000590712:exon6:c.592-2A>C;ENST00000538587:exon6:c.418-2A>C)	.	.	0.999994064153128	0.93
18	31673564	G	A	18	34093600	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0480744627929495	0.3
18	31673564	G	C	18	34093600	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999906937166435	0.876
18	31673564	G	T	18	34093600	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.767145597957371	0.728
18	31673565	A	C	18	34093601	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00570913372122786	0.08
18	31673565	A	G	18	34093601	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.88090318654395E-4	0.032
18	31673565	A	T	18	34093601	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00293648861576108	0.038
18	31673566	A	C	18	34093602	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998599473637656	0.9
18	31673566	A	G	18	34093602	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.713808809949631	0.478
18	31673566	A	T	18	34093602	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999446751910536	0.924
18	31673567	A	C	18	34093603	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.997768370425619	0.882
18	31673567	A	G	18	34093603	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00928597995546957	0.126
18	31673567	A	T	18	34093603	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.996881768116972	0.854
18	31673568	A	C	18	34093604	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999956247314588	0.974
18	31673568	A	G	18	34093604	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00106146455323836	0.08
18	31673568	A	T	18	34093604	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0845883032399153	0.406
18	31673569	T	A	18	34093605	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.37850316264128E-5	0.008
18	31673569	T	C	18	34093605	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.81905827746698E-5	0.0
18	31673569	T	G	18	34093605	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.26859930610842E-5	0.002
18	31673570	A	C	18	34093606	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00807022504604101	0.19
18	31673570	A	G	18	34093606	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.72828401197182E-4	0.136
18	31673570	A	T	18	34093606	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00707667607534502	0.216
18	31673571	G	A	18	34093607	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0131613924064198	0.192
18	31673571	G	C	18	34093607	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999969044563818	0.968
18	31673571	G	T	18	34093607	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0355506316180868	0.164
18	31673572	T	A	18	34093608	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.811289944162622	0.542
18	31673572	T	C	18	34093608	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999743649024941	0.918
18	31673572	T	G	18	34093608	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.564772694847563	0.524
18	31673573	T	A	18	34093609	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.516977944461217	0.478
18	31673573	T	C	18	34093609	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999851525598517	0.928
18	31673573	T	G	18	34093609	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.479257595445817	0.468
18	31684003	T	A	18	34104039	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.43250246362343E-5	0.0
18	31684003	T	C	18	34104039	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.99201184829786E-4	0.0
18	31684003	T	G	18	34104039	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.01972570672624E-4	0.0
18	31684004	A	C	18	34104040	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.04829432612063E-5	0.0
18	31684004	A	G	18	34104040	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.51753233322841E-5	0.0
18	31684004	A	T	18	34104040	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.91204534018746E-5	0.0
18	31684005	T	A	18	34104041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.60822758383487E-5	0.0
18	31684005	T	C	18	34104041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.72497565030358E-5	0.0
18	31684005	T	G	18	34104041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.69895851675206E-5	0.012
18	31684006	T	A	18	34104042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.08279415497962E-5	0.006
18	31684006	T	C	18	34104042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.04443003324735E-4	0.052
18	31684006	T	G	18	34104042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.36617528447769E-5	0.014
18	31684007	T	A	18	34104043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.319013138837407	0.42
18	31684007	T	C	18	34104043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.891405625640721	0.696
18	31684007	T	G	18	34104043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.859214090086136	0.614
18	31684008	T	A	18	34104044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999855751484787	0.966
18	31684008	T	C	18	34104044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.990544388905595	0.89
18	31684008	T	G	18	34104044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999641957053825	0.958
18	31684009	A	C	18	34104045	y	y	splicing	NOL4(NM_003787:exon5:c.639+2T>G;NM_001282527:exon6:c.174+2T>G;NM_001198548:exon5:c.639+2T>G;NM_001198547:exon5:c.417+2T>G;NM_001198546:exon5:c.639+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.639+2T>G;ENST00000269185:exon5:c.297+2T>G;ENST00000535475:exon6:c.174+2T>G;ENST00000589544:exon5:c.639+2T>G;ENST00000586314:exon6:c.458+2T>G;ENST00000590712:exon5:c.591+2T>G;ENST00000538587:exon5:c.417+2T>G)	.	.	0.999988247793601	0.926
18	31684009	A	G	18	34104045	y	y	splicing	NOL4(NM_003787:exon5:c.639+2T>C;NM_001282527:exon6:c.174+2T>C;NM_001198548:exon5:c.639+2T>C;NM_001198547:exon5:c.417+2T>C;NM_001198546:exon5:c.639+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.639+2T>C;ENST00000269185:exon5:c.297+2T>C;ENST00000535475:exon6:c.174+2T>C;ENST00000589544:exon5:c.639+2T>C;ENST00000586314:exon6:c.458+2T>C;ENST00000590712:exon5:c.591+2T>C;ENST00000538587:exon5:c.417+2T>C)	.	.	0.98918007292081	0.642
18	31684009	A	T	18	34104045	y	y	splicing	NOL4(NM_003787:exon5:c.639+2T>A;NM_001282527:exon6:c.174+2T>A;NM_001198548:exon5:c.639+2T>A;NM_001198547:exon5:c.417+2T>A;NM_001198546:exon5:c.639+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.639+2T>A;ENST00000269185:exon5:c.297+2T>A;ENST00000535475:exon6:c.174+2T>A;ENST00000589544:exon5:c.639+2T>A;ENST00000586314:exon6:c.458+2T>A;ENST00000590712:exon5:c.591+2T>A;ENST00000538587:exon5:c.417+2T>A)	.	.	0.999988247793601	0.922
18	31684010	C	A	18	34104046	y	y	splicing	NOL4(NM_003787:exon5:c.639+1G>T;NM_001282527:exon6:c.174+1G>T;NM_001198548:exon5:c.639+1G>T;NM_001198547:exon5:c.417+1G>T;NM_001198546:exon5:c.639+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.639+1G>T;ENST00000269185:exon5:c.297+1G>T;ENST00000535475:exon6:c.174+1G>T;ENST00000589544:exon5:c.639+1G>T;ENST00000586314:exon6:c.458+1G>T;ENST00000590712:exon5:c.591+1G>T;ENST00000538587:exon5:c.417+1G>T)	.	.	0.999985532734767	0.934
18	31684010	C	G	18	34104046	y	y	splicing	NOL4(NM_003787:exon5:c.639+1G>C;NM_001282527:exon6:c.174+1G>C;NM_001198548:exon5:c.639+1G>C;NM_001198547:exon5:c.417+1G>C;NM_001198546:exon5:c.639+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.639+1G>C;ENST00000269185:exon5:c.297+1G>C;ENST00000535475:exon6:c.174+1G>C;ENST00000589544:exon5:c.639+1G>C;ENST00000586314:exon6:c.458+1G>C;ENST00000590712:exon5:c.591+1G>C;ENST00000538587:exon5:c.417+1G>C)	.	.	0.999985532734767	0.934
18	31684010	C	T	18	34104046	y	y	splicing	NOL4(NM_003787:exon5:c.639+1G>A;NM_001282527:exon6:c.174+1G>A;NM_001198548:exon5:c.639+1G>A;NM_001198547:exon5:c.417+1G>A;NM_001198546:exon5:c.639+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.639+1G>A;ENST00000269185:exon5:c.297+1G>A;ENST00000535475:exon6:c.174+1G>A;ENST00000589544:exon5:c.639+1G>A;ENST00000586314:exon6:c.458+1G>A;ENST00000590712:exon5:c.591+1G>A;ENST00000538587:exon5:c.417+1G>A)	.	.	0.999985532734767	0.934
18	31684011	C	A	18	34104047	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.G417T:p.E139D;NOL4:NM_003787:exon4:c.G639T:p.E213D;NOL4:NM_001282527:exon5:c.G174T:p.E58D;NOL4:NM_001198548:exon4:c.G639T:p.E213D;NOL4:NM_001198546:exon4:c.G639T:p.E213D;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.G417T:p.E139D;ENSG00000101746:ENST00000535475:exon5:c.G174T:p.E58D;ENSG00000101746:ENST00000590712:exon4:c.G591T:p.E197D;ENSG00000101746:ENST00000589544:exon4:c.G639T:p.E213D;ENSG00000101746:ENST00000261592:exon4:c.G639T:p.E213D;ENSG00000101746:ENST00000269185:exon4:c.G297T:p.E99D;	0.99999006121748	1.0
18	31684011	C	G	18	34104047	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.G417C:p.E139D;NOL4:NM_003787:exon4:c.G639C:p.E213D;NOL4:NM_001282527:exon5:c.G174C:p.E58D;NOL4:NM_001198548:exon4:c.G639C:p.E213D;NOL4:NM_001198546:exon4:c.G639C:p.E213D;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.G417C:p.E139D;ENSG00000101746:ENST00000535475:exon5:c.G174C:p.E58D;ENSG00000101746:ENST00000590712:exon4:c.G591C:p.E197D;ENSG00000101746:ENST00000589544:exon4:c.G639C:p.E213D;ENSG00000101746:ENST00000261592:exon4:c.G639C:p.E213D;ENSG00000101746:ENST00000269185:exon4:c.G297C:p.E99D;	0.999997668522844	1.0
18	31684011	C	T	18	34104047	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon4:c.G417A:p.E139E;NOL4:NM_003787:exon4:c.G639A:p.E213E;NOL4:NM_001282527:exon5:c.G174A:p.E58E;NOL4:NM_001198548:exon4:c.G639A:p.E213E;NOL4:NM_001198546:exon4:c.G639A:p.E213E;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.G417A:p.E139E;ENSG00000101746:ENST00000535475:exon5:c.G174A:p.E58E;ENSG00000101746:ENST00000590712:exon4:c.G591A:p.E197E;ENSG00000101746:ENST00000589544:exon4:c.G639A:p.E213E;ENSG00000101746:ENST00000261592:exon4:c.G639A:p.E213E;ENSG00000101746:ENST00000269185:exon4:c.G297A:p.E99E;	0.999980518243781	0.982
18	31684012	T	A	18	34104048	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.A416T:p.E139V;NOL4:NM_003787:exon4:c.A638T:p.E213V;NOL4:NM_001282527:exon5:c.A173T:p.E58V;NOL4:NM_001198548:exon4:c.A638T:p.E213V;NOL4:NM_001198546:exon4:c.A638T:p.E213V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.A416T:p.E139V;ENSG00000101746:ENST00000535475:exon5:c.A173T:p.E58V;ENSG00000101746:ENST00000590712:exon4:c.A590T:p.E197V;ENSG00000101746:ENST00000589544:exon4:c.A638T:p.E213V;ENSG00000101746:ENST00000261592:exon4:c.A638T:p.E213V;ENSG00000101746:ENST00000269185:exon4:c.A296T:p.E99V;	0.99995610008983	1.0
18	31684012	T	C	18	34104048	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.A416G:p.E139G;NOL4:NM_003787:exon4:c.A638G:p.E213G;NOL4:NM_001282527:exon5:c.A173G:p.E58G;NOL4:NM_001198548:exon4:c.A638G:p.E213G;NOL4:NM_001198546:exon4:c.A638G:p.E213G;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.A416G:p.E139G;ENSG00000101746:ENST00000535475:exon5:c.A173G:p.E58G;ENSG00000101746:ENST00000590712:exon4:c.A590G:p.E197G;ENSG00000101746:ENST00000589544:exon4:c.A638G:p.E213G;ENSG00000101746:ENST00000261592:exon4:c.A638G:p.E213G;ENSG00000101746:ENST00000269185:exon4:c.A296G:p.E99G;	0.999969826942849	0.996
18	31684012	T	G	18	34104048	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.A416C:p.E139A;NOL4:NM_003787:exon4:c.A638C:p.E213A;NOL4:NM_001282527:exon5:c.A173C:p.E58A;NOL4:NM_001198548:exon4:c.A638C:p.E213A;NOL4:NM_001198546:exon4:c.A638C:p.E213A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.A416C:p.E139A;ENSG00000101746:ENST00000535475:exon5:c.A173C:p.E58A;ENSG00000101746:ENST00000590712:exon4:c.A590C:p.E197A;ENSG00000101746:ENST00000589544:exon4:c.A638C:p.E213A;ENSG00000101746:ENST00000261592:exon4:c.A638C:p.E213A;ENSG00000101746:ENST00000269185:exon4:c.A296C:p.E99A;	0.999928376674392	0.996
18	31684013	C	A	18	34104049	y	y	exonic	NOL4	stopgain SNV	NOL4:NM_001198547:exon4:c.G415T:p.E139X;NOL4:NM_003787:exon4:c.G637T:p.E213X;NOL4:NM_001282527:exon5:c.G172T:p.E58X;NOL4:NM_001198548:exon4:c.G637T:p.E213X;NOL4:NM_001198546:exon4:c.G637T:p.E213X;	exonic	ENSG00000101746	stopgain SNV	ENSG00000101746:ENST00000538587:exon4:c.G415T:p.E139X;ENSG00000101746:ENST00000535475:exon5:c.G172T:p.E58X;ENSG00000101746:ENST00000590712:exon4:c.G589T:p.E197X;ENSG00000101746:ENST00000589544:exon4:c.G637T:p.E213X;ENSG00000101746:ENST00000261592:exon4:c.G637T:p.E213X;ENSG00000101746:ENST00000269185:exon4:c.G295T:p.E99X;	0.981755733949509	0.812
18	31684013	C	G	18	34104049	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.G415C:p.E139Q;NOL4:NM_003787:exon4:c.G637C:p.E213Q;NOL4:NM_001282527:exon5:c.G172C:p.E58Q;NOL4:NM_001198548:exon4:c.G637C:p.E213Q;NOL4:NM_001198546:exon4:c.G637C:p.E213Q;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.G415C:p.E139Q;ENSG00000101746:ENST00000535475:exon5:c.G172C:p.E58Q;ENSG00000101746:ENST00000590712:exon4:c.G589C:p.E197Q;ENSG00000101746:ENST00000589544:exon4:c.G637C:p.E213Q;ENSG00000101746:ENST00000261592:exon4:c.G637C:p.E213Q;ENSG00000101746:ENST00000269185:exon4:c.G295C:p.E99Q;	0.00211756699900943	0.028
18	31684013	C	T	18	34104049	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.G415A:p.E139K;NOL4:NM_003787:exon4:c.G637A:p.E213K;NOL4:NM_001282527:exon5:c.G172A:p.E58K;NOL4:NM_001198548:exon4:c.G637A:p.E213K;NOL4:NM_001198546:exon4:c.G637A:p.E213K;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.G415A:p.E139K;ENSG00000101746:ENST00000535475:exon5:c.G172A:p.E58K;ENSG00000101746:ENST00000590712:exon4:c.G589A:p.E197K;ENSG00000101746:ENST00000589544:exon4:c.G637A:p.E213K;ENSG00000101746:ENST00000261592:exon4:c.G637A:p.E213K;ENSG00000101746:ENST00000269185:exon4:c.G295A:p.E99K;	0.926447637408592	0.762
18	31684122	A	C	18	34104158	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.T306G:p.D102E;NOL4:NM_003787:exon4:c.T528G:p.D176E;NOL4:NM_001282527:exon5:c.T63G:p.D21E;NOL4:NM_001198548:exon4:c.T528G:p.D176E;NOL4:NM_001198546:exon4:c.T528G:p.D176E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.T306G:p.D102E;ENSG00000101746:ENST00000535475:exon5:c.T63G:p.D21E;ENSG00000101746:ENST00000590712:exon4:c.T480G:p.D160E;ENSG00000101746:ENST00000589544:exon4:c.T528G:p.D176E;ENSG00000101746:ENST00000261592:exon4:c.T528G:p.D176E;ENSG00000101746:ENST00000269185:exon4:c.T186G:p.D62E;	0.00347135262069432	0.138
18	31684122	A	G	18	34104158	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon4:c.T306C:p.D102D;NOL4:NM_003787:exon4:c.T528C:p.D176D;NOL4:NM_001282527:exon5:c.T63C:p.D21D;NOL4:NM_001198548:exon4:c.T528C:p.D176D;NOL4:NM_001198546:exon4:c.T528C:p.D176D;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.T306C:p.D102D;ENSG00000101746:ENST00000535475:exon5:c.T63C:p.D21D;ENSG00000101746:ENST00000590712:exon4:c.T480C:p.D160D;ENSG00000101746:ENST00000589544:exon4:c.T528C:p.D176D;ENSG00000101746:ENST00000261592:exon4:c.T528C:p.D176D;ENSG00000101746:ENST00000269185:exon4:c.T186C:p.D62D;	0.00269520073986184	0.192
18	31684122	A	T	18	34104158	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.T306A:p.D102E;NOL4:NM_003787:exon4:c.T528A:p.D176E;NOL4:NM_001282527:exon5:c.T63A:p.D21E;NOL4:NM_001198548:exon4:c.T528A:p.D176E;NOL4:NM_001198546:exon4:c.T528A:p.D176E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.T306A:p.D102E;ENSG00000101746:ENST00000535475:exon5:c.T63A:p.D21E;ENSG00000101746:ENST00000590712:exon4:c.T480A:p.D160E;ENSG00000101746:ENST00000589544:exon4:c.T528A:p.D176E;ENSG00000101746:ENST00000261592:exon4:c.T528A:p.D176E;ENSG00000101746:ENST00000269185:exon4:c.T186A:p.D62E;	0.00919386173569988	0.082
18	31684123	T	A	18	34104159	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.A305T:p.D102V;NOL4:NM_003787:exon4:c.A527T:p.D176V;NOL4:NM_001282527:exon5:c.A62T:p.D21V;NOL4:NM_001198548:exon4:c.A527T:p.D176V;NOL4:NM_001198546:exon4:c.A527T:p.D176V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.A305T:p.D102V;ENSG00000101746:ENST00000535475:exon5:c.A62T:p.D21V;ENSG00000101746:ENST00000590712:exon4:c.A479T:p.D160V;ENSG00000101746:ENST00000589544:exon4:c.A527T:p.D176V;ENSG00000101746:ENST00000261592:exon4:c.A527T:p.D176V;ENSG00000101746:ENST00000269185:exon4:c.A185T:p.D62V;	0.713015111007194	0.528
18	31684123	T	C	18	34104159	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.A305G:p.D102G;NOL4:NM_003787:exon4:c.A527G:p.D176G;NOL4:NM_001282527:exon5:c.A62G:p.D21G;NOL4:NM_001198548:exon4:c.A527G:p.D176G;NOL4:NM_001198546:exon4:c.A527G:p.D176G;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.A305G:p.D102G;ENSG00000101746:ENST00000535475:exon5:c.A62G:p.D21G;ENSG00000101746:ENST00000590712:exon4:c.A479G:p.D160G;ENSG00000101746:ENST00000589544:exon4:c.A527G:p.D176G;ENSG00000101746:ENST00000261592:exon4:c.A527G:p.D176G;ENSG00000101746:ENST00000269185:exon4:c.A185G:p.D62G;	0.626182679411447	0.652
18	31684123	T	G	18	34104159	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon4:c.A305C:p.D102A;NOL4:NM_003787:exon4:c.A527C:p.D176A;NOL4:NM_001282527:exon5:c.A62C:p.D21A;NOL4:NM_001198548:exon4:c.A527C:p.D176A;NOL4:NM_001198546:exon4:c.A527C:p.D176A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon4:c.A305C:p.D102A;ENSG00000101746:ENST00000535475:exon5:c.A62C:p.D21A;ENSG00000101746:ENST00000590712:exon4:c.A479C:p.D160A;ENSG00000101746:ENST00000589544:exon4:c.A527C:p.D176A;ENSG00000101746:ENST00000261592:exon4:c.A527C:p.D176A;ENSG00000101746:ENST00000269185:exon4:c.A185C:p.D62A;	0.557471241355598	0.536
18	31684124	C	A	18	34104160	y	y	splicing	NOL4(NM_003787:exon5:c.527-1G>T;NM_001282527:exon6:c.62-1G>T;NM_001198548:exon5:c.527-1G>T;NM_001198547:exon5:c.305-1G>T;NM_001198546:exon5:c.527-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.527-1G>T;ENST00000269185:exon5:c.185-1G>T;ENST00000535475:exon6:c.62-1G>T;ENST00000589544:exon5:c.527-1G>T;ENST00000586314:exon6:c.346-1G>T;ENST00000590712:exon5:c.479-1G>T;ENST00000538587:exon5:c.305-1G>T;ENST00000591917:exon6:c.388-1G>T)	.	.	0.999985532734767	0.938
18	31684124	C	G	18	34104160	y	y	splicing	NOL4(NM_003787:exon5:c.527-1G>C;NM_001282527:exon6:c.62-1G>C;NM_001198548:exon5:c.527-1G>C;NM_001198547:exon5:c.305-1G>C;NM_001198546:exon5:c.527-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.527-1G>C;ENST00000269185:exon5:c.185-1G>C;ENST00000535475:exon6:c.62-1G>C;ENST00000589544:exon5:c.527-1G>C;ENST00000586314:exon6:c.346-1G>C;ENST00000590712:exon5:c.479-1G>C;ENST00000538587:exon5:c.305-1G>C;ENST00000591917:exon6:c.388-1G>C)	.	.	0.999985532734767	0.938
18	31684124	C	T	18	34104160	y	y	splicing	NOL4(NM_003787:exon5:c.527-1G>A;NM_001282527:exon6:c.62-1G>A;NM_001198548:exon5:c.527-1G>A;NM_001198547:exon5:c.305-1G>A;NM_001198546:exon5:c.527-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.527-1G>A;ENST00000269185:exon5:c.185-1G>A;ENST00000535475:exon6:c.62-1G>A;ENST00000589544:exon5:c.527-1G>A;ENST00000586314:exon6:c.346-1G>A;ENST00000590712:exon5:c.479-1G>A;ENST00000538587:exon5:c.305-1G>A;ENST00000591917:exon6:c.388-1G>A)	.	.	0.999985532734767	0.938
18	31684125	T	A	18	34104161	y	y	splicing	NOL4(NM_003787:exon5:c.527-2A>T;NM_001282527:exon6:c.62-2A>T;NM_001198548:exon5:c.527-2A>T;NM_001198547:exon5:c.305-2A>T;NM_001198546:exon5:c.527-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.527-2A>T;ENST00000269185:exon5:c.185-2A>T;ENST00000535475:exon6:c.62-2A>T;ENST00000589544:exon5:c.527-2A>T;ENST00000586314:exon6:c.346-2A>T;ENST00000590712:exon5:c.479-2A>T;ENST00000538587:exon5:c.305-2A>T;ENST00000591917:exon6:c.388-2A>T)	.	.	0.999988247793601	0.928
18	31684125	T	C	18	34104161	y	y	splicing	NOL4(NM_003787:exon5:c.527-2A>G;NM_001282527:exon6:c.62-2A>G;NM_001198548:exon5:c.527-2A>G;NM_001198547:exon5:c.305-2A>G;NM_001198546:exon5:c.527-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.527-2A>G;ENST00000269185:exon5:c.185-2A>G;ENST00000535475:exon6:c.62-2A>G;ENST00000589544:exon5:c.527-2A>G;ENST00000586314:exon6:c.346-2A>G;ENST00000590712:exon5:c.479-2A>G;ENST00000538587:exon5:c.305-2A>G;ENST00000591917:exon6:c.388-2A>G)	.	.	0.999988247793601	0.928
18	31684125	T	G	18	34104161	y	y	splicing	NOL4(NM_003787:exon5:c.527-2A>C;NM_001282527:exon6:c.62-2A>C;NM_001198548:exon5:c.527-2A>C;NM_001198547:exon5:c.305-2A>C;NM_001198546:exon5:c.527-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon5:c.527-2A>C;ENST00000269185:exon5:c.185-2A>C;ENST00000535475:exon6:c.62-2A>C;ENST00000589544:exon5:c.527-2A>C;ENST00000586314:exon6:c.346-2A>C;ENST00000590712:exon5:c.479-2A>C;ENST00000538587:exon5:c.305-2A>C;ENST00000591917:exon6:c.388-2A>C)	.	.	0.999988247793601	0.928
18	31684126	G	A	18	34104162	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0207783822379745	0.052
18	31684126	G	C	18	34104162	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999896970941978	0.92
18	31684126	G	T	18	34104162	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.995992926168256	0.878
18	31684127	T	A	18	34104163	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.67760452492979E-4	0.064
18	31684127	T	C	18	34104163	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.42154421413759E-5	0.074
18	31684127	T	G	18	34104163	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.00732585947389E-5	0.012
18	31684128	A	C	18	34104164	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.740198332336867	0.728
18	31684128	A	G	18	34104164	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0939738508940398	0.196
18	31684128	A	T	18	34104164	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.93026769131329	0.81
18	31684129	A	C	18	34104165	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99994307354009	0.974
18	31684129	A	G	18	34104165	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00265382368593234	0.072
18	31684129	A	T	18	34104165	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.973824782163296	0.86
18	31684130	T	A	18	34104166	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.41656864408305E-4	0.034
18	31684130	T	C	18	34104166	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.52072202935187E-4	0.018
18	31684130	T	G	18	34104166	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.6104635140866E-4	0.01
18	31684131	A	C	18	34104167	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00381356056229813	0.224
18	31684131	A	G	18	34104167	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.52408738395995E-4	0.004
18	31684131	A	T	18	34104167	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0119773852699236	0.204
18	31684132	A	C	18	34104168	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.916261491231623	0.604
18	31684132	A	G	18	34104168	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0304810189302658	0.13
18	31684132	A	T	18	34104168	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.941984479280401	0.644
18	31684133	A	C	18	34104169	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.967549893503838	0.652
18	31684133	A	G	18	34104169	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00446689102823486	0.126
18	31684133	A	T	18	34104169	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.986339650667708	0.678
18	31684134	A	C	18	34104170	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.997096849179164	0.834
18	31684134	A	G	18	34104170	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.575966519522276	0.448
18	31684134	A	T	18	34104170	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.996605940304015	0.876
18	31684135	C	A	18	34104171	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.598904881760034	0.416
18	31684135	C	G	18	34104171	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.519583277437133	0.486
18	31684135	C	T	18	34104171	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.950767091447454	0.688
18	31685005	G	A	18	34105041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0055061519329587	0.036
18	31685005	G	C	18	34105041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0014522277742862	0.026
18	31685005	G	T	18	34105041	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00119463155738111	0.034
18	31685006	C	A	18	34105042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.11575790965158E-4	0.0
18	31685006	C	G	18	34105042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.31636336920299E-4	0.0
18	31685006	C	T	18	34105042	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.47226492317243E-5	0.0
18	31685007	A	C	18	34105043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.17208516547368E-4	0.072
18	31685007	A	G	18	34105043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.22750384387088E-4	0.178
18	31685007	A	T	18	34105043	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.92087312566728E-5	0.078
18	31685008	G	A	18	34105044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.28968435695948E-4	0.026
18	31685008	G	C	18	34105044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.4848114678824E-5	0.048
18	31685008	G	T	18	34105044	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.37575852539926E-5	0.036
18	31685009	C	A	18	34105045	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00455361766577718	0.096
18	31685009	C	G	18	34105045	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00226956466608245	0.192
18	31685009	C	T	18	34105045	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.3613557655465E-4	0.142
18	31685010	T	A	18	34105046	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999835631929102	0.938
18	31685010	T	C	18	34105046	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.941235962360332	0.678
18	31685010	T	G	18	34105046	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999722643933735	0.848
18	31685011	A	C	18	34105047	y	y	splicing	NOL4(NM_003787:exon4:c.526+2T>G;NM_001282527:exon5:c.61+2T>G;NM_001198548:exon4:c.526+2T>G;NM_001198547:exon4:c.304+2T>G;NM_001198546:exon4:c.526+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.526+2T>G;ENST00000269185:exon4:c.184+2T>G;ENST00000535475:exon5:c.61+2T>G;ENST00000589544:exon4:c.526+2T>G;ENST00000586314:exon5:c.345+2T>G;ENST00000590712:exon4:c.478+2T>G;ENST00000538587:exon4:c.304+2T>G;ENST00000591917:exon5:c.387+2T>G)	.	.	0.999639164250855	0.784
18	31685011	A	G	18	34105047	y	y	splicing	NOL4(NM_003787:exon4:c.526+2T>C;NM_001282527:exon5:c.61+2T>C;NM_001198548:exon4:c.526+2T>C;NM_001198547:exon4:c.304+2T>C;NM_001198546:exon4:c.526+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.526+2T>C;ENST00000269185:exon4:c.184+2T>C;ENST00000535475:exon5:c.61+2T>C;ENST00000589544:exon4:c.526+2T>C;ENST00000586314:exon5:c.345+2T>C;ENST00000590712:exon4:c.478+2T>C;ENST00000538587:exon4:c.304+2T>C;ENST00000591917:exon5:c.387+2T>C)	.	.	0.792532982691287	0.548
18	31685011	A	T	18	34105047	y	y	splicing	NOL4(NM_003787:exon4:c.526+2T>A;NM_001282527:exon5:c.61+2T>A;NM_001198548:exon4:c.526+2T>A;NM_001198547:exon4:c.304+2T>A;NM_001198546:exon4:c.526+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.526+2T>A;ENST00000269185:exon4:c.184+2T>A;ENST00000535475:exon5:c.61+2T>A;ENST00000589544:exon4:c.526+2T>A;ENST00000586314:exon5:c.345+2T>A;ENST00000590712:exon4:c.478+2T>A;ENST00000538587:exon4:c.304+2T>A;ENST00000591917:exon5:c.387+2T>A)	.	.	0.999639164250855	0.822
18	31685012	C	A	18	34105048	y	y	splicing	NOL4(NM_003787:exon4:c.526+1G>T;NM_001282527:exon5:c.61+1G>T;NM_001198548:exon4:c.526+1G>T;NM_001198547:exon4:c.304+1G>T;NM_001198546:exon4:c.526+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.526+1G>T;ENST00000269185:exon4:c.184+1G>T;ENST00000535475:exon5:c.61+1G>T;ENST00000589544:exon4:c.526+1G>T;ENST00000586314:exon5:c.345+1G>T;ENST00000590712:exon4:c.478+1G>T;ENST00000538587:exon4:c.304+1G>T;ENST00000591917:exon5:c.387+1G>T)	.	.	0.99995586615188	0.94
18	31685012	C	G	18	34105048	y	y	splicing	NOL4(NM_003787:exon4:c.526+1G>C;NM_001282527:exon5:c.61+1G>C;NM_001198548:exon4:c.526+1G>C;NM_001198547:exon4:c.304+1G>C;NM_001198546:exon4:c.526+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.526+1G>C;ENST00000269185:exon4:c.184+1G>C;ENST00000535475:exon5:c.61+1G>C;ENST00000589544:exon4:c.526+1G>C;ENST00000586314:exon5:c.345+1G>C;ENST00000590712:exon4:c.478+1G>C;ENST00000538587:exon4:c.304+1G>C;ENST00000591917:exon5:c.387+1G>C)	.	.	0.999971209564868	0.938
18	31685012	C	T	18	34105048	y	y	splicing	NOL4(NM_003787:exon4:c.526+1G>A;NM_001282527:exon5:c.61+1G>A;NM_001198548:exon4:c.526+1G>A;NM_001198547:exon4:c.304+1G>A;NM_001198546:exon4:c.526+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.526+1G>A;ENST00000269185:exon4:c.184+1G>A;ENST00000535475:exon5:c.61+1G>A;ENST00000589544:exon4:c.526+1G>A;ENST00000586314:exon5:c.345+1G>A;ENST00000590712:exon4:c.478+1G>A;ENST00000538587:exon4:c.304+1G>A;ENST00000591917:exon5:c.387+1G>A)	.	.	0.99995586615188	0.912
18	31685013	C	A	18	34105049	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.G304T:p.D102Y;NOL4:NM_003787:exon3:c.G526T:p.D176Y;NOL4:NM_001282527:exon4:c.G61T:p.D21Y;NOL4:NM_001198548:exon3:c.G526T:p.D176Y;NOL4:NM_001198546:exon3:c.G526T:p.D176Y;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.G304T:p.D102Y;ENSG00000101746:ENST00000535475:exon4:c.G61T:p.D21Y;ENSG00000101746:ENST00000590712:exon3:c.G478T:p.D160Y;ENSG00000101746:ENST00000589544:exon3:c.G526T:p.D176Y;ENSG00000101746:ENST00000261592:exon3:c.G526T:p.D176Y;ENSG00000101746:ENST00000269185:exon3:c.G184T:p.D62Y;	0.999983988100259	0.992
18	31685013	C	G	18	34105049	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.G304C:p.D102H;NOL4:NM_003787:exon3:c.G526C:p.D176H;NOL4:NM_001282527:exon4:c.G61C:p.D21H;NOL4:NM_001198548:exon3:c.G526C:p.D176H;NOL4:NM_001198546:exon3:c.G526C:p.D176H;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.G304C:p.D102H;ENSG00000101746:ENST00000535475:exon4:c.G61C:p.D21H;ENSG00000101746:ENST00000590712:exon3:c.G478C:p.D160H;ENSG00000101746:ENST00000589544:exon3:c.G526C:p.D176H;ENSG00000101746:ENST00000261592:exon3:c.G526C:p.D176H;ENSG00000101746:ENST00000269185:exon3:c.G184C:p.D62H;	0.999997201717428	1.0
18	31685013	C	T	18	34105049	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.G304A:p.D102N;NOL4:NM_003787:exon3:c.G526A:p.D176N;NOL4:NM_001282527:exon4:c.G61A:p.D21N;NOL4:NM_001198548:exon3:c.G526A:p.D176N;NOL4:NM_001198546:exon3:c.G526A:p.D176N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.G304A:p.D102N;ENSG00000101746:ENST00000535475:exon4:c.G61A:p.D21N;ENSG00000101746:ENST00000590712:exon3:c.G478A:p.D160N;ENSG00000101746:ENST00000589544:exon3:c.G526A:p.D176N;ENSG00000101746:ENST00000261592:exon3:c.G526A:p.D176N;ENSG00000101746:ENST00000269185:exon3:c.G184A:p.D62N;	0.999995395712861	0.998
18	31685014	T	A	18	34105050	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.A303T:p.K101N;NOL4:NM_003787:exon3:c.A525T:p.K175N;NOL4:NM_001282527:exon4:c.A60T:p.K20N;NOL4:NM_001198548:exon3:c.A525T:p.K175N;NOL4:NM_001198546:exon3:c.A525T:p.K175N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A303T:p.K101N;ENSG00000101746:ENST00000535475:exon4:c.A60T:p.K20N;ENSG00000101746:ENST00000590712:exon3:c.A477T:p.K159N;ENSG00000101746:ENST00000589544:exon3:c.A525T:p.K175N;ENSG00000101746:ENST00000261592:exon3:c.A525T:p.K175N;ENSG00000101746:ENST00000269185:exon3:c.A183T:p.K61N;	0.997484905358187	0.898
18	31685014	T	C	18	34105050	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon3:c.A303G:p.K101K;NOL4:NM_003787:exon3:c.A525G:p.K175K;NOL4:NM_001282527:exon4:c.A60G:p.K20K;NOL4:NM_001198548:exon3:c.A525G:p.K175K;NOL4:NM_001198546:exon3:c.A525G:p.K175K;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A303G:p.K101K;ENSG00000101746:ENST00000535475:exon4:c.A60G:p.K20K;ENSG00000101746:ENST00000590712:exon3:c.A477G:p.K159K;ENSG00000101746:ENST00000589544:exon3:c.A525G:p.K175K;ENSG00000101746:ENST00000261592:exon3:c.A525G:p.K175K;ENSG00000101746:ENST00000269185:exon3:c.A183G:p.K61K;	0.979855700242941	0.79
18	31685014	T	G	18	34105050	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.A303C:p.K101N;NOL4:NM_003787:exon3:c.A525C:p.K175N;NOL4:NM_001282527:exon4:c.A60C:p.K20N;NOL4:NM_001198548:exon3:c.A525C:p.K175N;NOL4:NM_001198546:exon3:c.A525C:p.K175N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A303C:p.K101N;ENSG00000101746:ENST00000535475:exon4:c.A60C:p.K20N;ENSG00000101746:ENST00000590712:exon3:c.A477C:p.K159N;ENSG00000101746:ENST00000589544:exon3:c.A525C:p.K175N;ENSG00000101746:ENST00000261592:exon3:c.A525C:p.K175N;ENSG00000101746:ENST00000269185:exon3:c.A183C:p.K61N;	0.996414312210395	0.85
18	31685015	T	A	18	34105051	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.A302T:p.K101I;NOL4:NM_003787:exon3:c.A524T:p.K175I;NOL4:NM_001282527:exon4:c.A59T:p.K20I;NOL4:NM_001198548:exon3:c.A524T:p.K175I;NOL4:NM_001198546:exon3:c.A524T:p.K175I;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A302T:p.K101I;ENSG00000101746:ENST00000535475:exon4:c.A59T:p.K20I;ENSG00000101746:ENST00000590712:exon3:c.A476T:p.K159I;ENSG00000101746:ENST00000589544:exon3:c.A524T:p.K175I;ENSG00000101746:ENST00000261592:exon3:c.A524T:p.K175I;ENSG00000101746:ENST00000269185:exon3:c.A182T:p.K61I;	0.76487660942697	0.636
18	31685015	T	C	18	34105051	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.A302G:p.K101R;NOL4:NM_003787:exon3:c.A524G:p.K175R;NOL4:NM_001282527:exon4:c.A59G:p.K20R;NOL4:NM_001198548:exon3:c.A524G:p.K175R;NOL4:NM_001198546:exon3:c.A524G:p.K175R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A302G:p.K101R;ENSG00000101746:ENST00000535475:exon4:c.A59G:p.K20R;ENSG00000101746:ENST00000590712:exon3:c.A476G:p.K159R;ENSG00000101746:ENST00000589544:exon3:c.A524G:p.K175R;ENSG00000101746:ENST00000261592:exon3:c.A524G:p.K175R;ENSG00000101746:ENST00000269185:exon3:c.A182G:p.K61R;	0.00107796553526887	0.028
18	31685015	T	G	18	34105051	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.A302C:p.K101T;NOL4:NM_003787:exon3:c.A524C:p.K175T;NOL4:NM_001282527:exon4:c.A59C:p.K20T;NOL4:NM_001198548:exon3:c.A524C:p.K175T;NOL4:NM_001198546:exon3:c.A524C:p.K175T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A302C:p.K101T;ENSG00000101746:ENST00000535475:exon4:c.A59C:p.K20T;ENSG00000101746:ENST00000590712:exon3:c.A476C:p.K159T;ENSG00000101746:ENST00000589544:exon3:c.A524C:p.K175T;ENSG00000101746:ENST00000261592:exon3:c.A524C:p.K175T;ENSG00000101746:ENST00000269185:exon3:c.A182C:p.K61T;	1.96066408857286E-4	0.046
18	31685123	A	C	18	34105159	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.T194G:p.I65S;NOL4:NM_003787:exon3:c.T416G:p.I139S;NOL4:NM_001198548:exon3:c.T416G:p.I139S;NOL4:NM_001198546:exon3:c.T416G:p.I139S;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.T194G:p.I65S;ENSG00000101746:ENST00000590712:exon3:c.T368G:p.I123S;ENSG00000101746:ENST00000589544:exon3:c.T416G:p.I139S;ENSG00000101746:ENST00000261592:exon3:c.T416G:p.I139S;ENSG00000101746:ENST00000269185:exon3:c.T74G:p.I25S;	0.761987738527551	0.338
18	31685123	A	G	18	34105159	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.T194C:p.I65T;NOL4:NM_003787:exon3:c.T416C:p.I139T;NOL4:NM_001198548:exon3:c.T416C:p.I139T;NOL4:NM_001198546:exon3:c.T416C:p.I139T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.T194C:p.I65T;ENSG00000101746:ENST00000590712:exon3:c.T368C:p.I123T;ENSG00000101746:ENST00000589544:exon3:c.T416C:p.I139T;ENSG00000101746:ENST00000261592:exon3:c.T416C:p.I139T;ENSG00000101746:ENST00000269185:exon3:c.T74C:p.I25T;	0.803310348872066	0.402
18	31685123	A	T	18	34105159	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.T194A:p.I65N;NOL4:NM_003787:exon3:c.T416A:p.I139N;NOL4:NM_001198548:exon3:c.T416A:p.I139N;NOL4:NM_001198546:exon3:c.T416A:p.I139N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.T194A:p.I65N;ENSG00000101746:ENST00000590712:exon3:c.T368A:p.I123N;ENSG00000101746:ENST00000589544:exon3:c.T416A:p.I139N;ENSG00000101746:ENST00000261592:exon3:c.T416A:p.I139N;ENSG00000101746:ENST00000269185:exon3:c.T74A:p.I25N;	0.771207432048416	0.37
18	31685124	T	A	18	34105160	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.A193T:p.I65F;NOL4:NM_003787:exon3:c.A415T:p.I139F;NOL4:NM_001198548:exon3:c.A415T:p.I139F;NOL4:NM_001198546:exon3:c.A415T:p.I139F;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A193T:p.I65F;ENSG00000101746:ENST00000590712:exon3:c.A367T:p.I123F;ENSG00000101746:ENST00000589544:exon3:c.A415T:p.I139F;ENSG00000101746:ENST00000261592:exon3:c.A415T:p.I139F;ENSG00000101746:ENST00000269185:exon3:c.A73T:p.I25F;	0.869895827693337	0.508
18	31685124	T	C	18	34105160	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.A193G:p.I65V;NOL4:NM_003787:exon3:c.A415G:p.I139V;NOL4:NM_001198548:exon3:c.A415G:p.I139V;NOL4:NM_001198546:exon3:c.A415G:p.I139V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A193G:p.I65V;ENSG00000101746:ENST00000590712:exon3:c.A367G:p.I123V;ENSG00000101746:ENST00000589544:exon3:c.A415G:p.I139V;ENSG00000101746:ENST00000261592:exon3:c.A415G:p.I139V;ENSG00000101746:ENST00000269185:exon3:c.A73G:p.I25V;	0.41131618634192	0.546
18	31685124	T	G	18	34105160	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon3:c.A193C:p.I65L;NOL4:NM_003787:exon3:c.A415C:p.I139L;NOL4:NM_001198548:exon3:c.A415C:p.I139L;NOL4:NM_001198546:exon3:c.A415C:p.I139L;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon3:c.A193C:p.I65L;ENSG00000101746:ENST00000590712:exon3:c.A367C:p.I123L;ENSG00000101746:ENST00000589544:exon3:c.A415C:p.I139L;ENSG00000101746:ENST00000261592:exon3:c.A415C:p.I139L;ENSG00000101746:ENST00000269185:exon3:c.A73C:p.I25L;	0.911515718574368	0.592
18	31685125	C	A	18	34105161	y	y	splicing	NOL4(NM_003787:exon4:c.415-1G>T;NM_001198548:exon4:c.415-1G>T;NM_001198547:exon4:c.193-1G>T;NM_001198546:exon4:c.415-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.415-1G>T;ENST00000269185:exon4:c.73-1G>T;ENST00000589544:exon4:c.415-1G>T;ENST00000586314:exon5:c.234-1G>T;ENST00000590712:exon4:c.367-1G>T;ENST00000538587:exon4:c.193-1G>T;ENST00000591917:exon5:c.276-1G>T;ENST00000586309:exon5:c.302-1G>T)	.	.	0.999984967332678	0.94
18	31685125	C	G	18	34105161	y	y	splicing	NOL4(NM_003787:exon4:c.415-1G>C;NM_001198548:exon4:c.415-1G>C;NM_001198547:exon4:c.193-1G>C;NM_001198546:exon4:c.415-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.415-1G>C;ENST00000269185:exon4:c.73-1G>C;ENST00000589544:exon4:c.415-1G>C;ENST00000586314:exon5:c.234-1G>C;ENST00000590712:exon4:c.367-1G>C;ENST00000538587:exon4:c.193-1G>C;ENST00000591917:exon5:c.276-1G>C;ENST00000586309:exon5:c.302-1G>C)	.	.	0.999984967332678	0.94
18	31685125	C	T	18	34105161	y	y	splicing	NOL4(NM_003787:exon4:c.415-1G>A;NM_001198548:exon4:c.415-1G>A;NM_001198547:exon4:c.193-1G>A;NM_001198546:exon4:c.415-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.415-1G>A;ENST00000269185:exon4:c.73-1G>A;ENST00000589544:exon4:c.415-1G>A;ENST00000586314:exon5:c.234-1G>A;ENST00000590712:exon4:c.367-1G>A;ENST00000538587:exon4:c.193-1G>A;ENST00000591917:exon5:c.276-1G>A;ENST00000586309:exon5:c.302-1G>A)	.	.	0.999984967332678	0.94
18	31685126	T	A	18	34105162	y	y	splicing	NOL4(NM_003787:exon4:c.415-2A>T;NM_001198548:exon4:c.415-2A>T;NM_001198547:exon4:c.193-2A>T;NM_001198546:exon4:c.415-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.415-2A>T;ENST00000269185:exon4:c.73-2A>T;ENST00000589544:exon4:c.415-2A>T;ENST00000586314:exon5:c.234-2A>T;ENST00000590712:exon4:c.367-2A>T;ENST00000538587:exon4:c.193-2A>T;ENST00000591917:exon5:c.276-2A>T;ENST00000586309:exon5:c.302-2A>T)	.	.	0.999986741007567	0.936
18	31685126	T	C	18	34105162	y	y	splicing	NOL4(NM_003787:exon4:c.415-2A>G;NM_001198548:exon4:c.415-2A>G;NM_001198547:exon4:c.193-2A>G;NM_001198546:exon4:c.415-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.415-2A>G;ENST00000269185:exon4:c.73-2A>G;ENST00000589544:exon4:c.415-2A>G;ENST00000586314:exon5:c.234-2A>G;ENST00000590712:exon4:c.367-2A>G;ENST00000538587:exon4:c.193-2A>G;ENST00000591917:exon5:c.276-2A>G;ENST00000586309:exon5:c.302-2A>G)	.	.	0.999986741007567	0.936
18	31685126	T	G	18	34105162	y	y	splicing	NOL4(NM_003787:exon4:c.415-2A>C;NM_001198548:exon4:c.415-2A>C;NM_001198547:exon4:c.193-2A>C;NM_001198546:exon4:c.415-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon4:c.415-2A>C;ENST00000269185:exon4:c.73-2A>C;ENST00000589544:exon4:c.415-2A>C;ENST00000586314:exon5:c.234-2A>C;ENST00000590712:exon4:c.367-2A>C;ENST00000538587:exon4:c.193-2A>C;ENST00000591917:exon5:c.276-2A>C;ENST00000586309:exon5:c.302-2A>C)	.	.	0.999986741007567	0.936
18	31685127	G	A	18	34105163	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.591445746653666	0.382
18	31685127	G	C	18	34105163	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999957129368253	0.946
18	31685127	G	T	18	34105163	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999539660716673	0.936
18	31685128	A	C	18	34105164	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00534247465228294	0.192
18	31685128	A	G	18	34105164	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.70204104310099E-4	0.158
18	31685128	A	T	18	34105164	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.48224518891582E-4	0.034
18	31685129	A	C	18	34105165	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.9945762418336	0.89
18	31685129	A	G	18	34105165	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.27361129245104	0.4
18	31685129	A	T	18	34105165	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.996804863150183	0.9
18	31685130	A	C	18	34105166	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999938203823561	0.966
18	31685130	A	G	18	34105166	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0140203116382367	0.28
18	31685130	A	T	18	34105166	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.99145584941238	0.856
18	31685131	T	A	18	34105167	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.6529265332776E-5	0.004
18	31685131	T	C	18	34105167	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.153510146797E-4	0.018
18	31685131	T	G	18	34105167	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.91429631195889E-5	0.016
18	31685132	G	A	18	34105168	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00146363733565199	0.056
18	31685132	G	C	18	34105168	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.845209831375442	0.488
18	31685132	G	T	18	34105168	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.72816091162204	0.522
18	31685133	A	C	18	34105169	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999978614176758	0.97
18	31685133	A	G	18	34105169	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00781684255925416	0.126
18	31685133	A	T	18	34105169	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.990205855272508	0.86
18	31685134	T	A	18	34105170	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.449623444726266	0.53
18	31685134	T	C	18	34105170	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999735906734428	0.916
18	31685134	T	G	18	34105170	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.374242893983682	0.474
18	31685135	T	A	18	34105171	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.25776941942508E-4	0.39
18	31685135	T	C	18	34105171	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.70494473537683E-4	0.174
18	31685135	T	G	18	34105171	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.63440732275194E-4	0.196
18	31685136	C	A	18	34105172	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.930773887395813	0.654
18	31685136	C	G	18	34105172	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.922905230345591	0.642
18	31685136	C	T	18	34105172	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.981851464016022	0.872
18	31701190	G	A	18	34121226	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.28852432169768E-5	0.002
18	31701190	G	C	18	34121226	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.84710548712625E-5	0.006
18	31701190	G	T	18	34121226	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.77993525610891E-5	0.012
18	31701191	T	A	18	34121227	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.92660318570302E-4	0.002
18	31701191	T	C	18	34121227	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.84677900533043E-4	0.002
18	31701191	T	G	18	34121227	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.84677900533043E-4	0.002
18	31701192	A	C	18	34121228	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.84677900533043E-4	0.002
18	31701192	A	G	18	34121228	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.84677900533043E-4	0.002
18	31701192	A	T	18	34121228	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.92660318570302E-4	0.002
18	31701193	C	A	18	34121229	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.71037690926497E-5	0.024
18	31701193	C	G	18	34121229	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.71037690926497E-5	0.002
18	31701193	C	T	18	34121229	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.51383879749987E-5	0.0
18	31701194	T	A	18	34121230	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.08802802279601E-5	0.0
18	31701194	T	C	18	34121230	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.78864525412067E-5	0.0
18	31701194	T	G	18	34121230	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.78864525412067E-5	0.0
18	31701195	T	A	18	34121231	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.15941453541388E-5	0.014
18	31701195	T	C	18	34121231	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.89925739660516E-5	0.006
18	31701195	T	G	18	34121231	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.89925739660516E-5	0.006
18	31701196	A	C	18	34121232	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.275+2T>G)	.	.	9.06619588578661E-5	0.008
18	31701196	A	G	18	34121232	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.275+2T>C)	.	.	9.06619588578661E-5	0.006
18	31701196	A	T	18	34121232	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.275+2T>A)	.	.	6.77993525610891E-5	0.002
18	31701197	C	A	18	34121233	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.275+1G>T)	.	.	3.4017424157928E-5	0.008
18	31701197	C	G	18	34121233	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.275+1G>C)	.	.	3.4017424157928E-5	0.006
18	31701197	C	T	18	34121233	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.275+1G>A)	.	.	3.4017424157928E-5	0.028
18	31701198	A	C	18	34121234	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	4.9036268812303E-5	0.0
18	31701198	A	G	18	34121234	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	4.9036268812303E-5	0.0
18	31701198	A	T	18	34121234	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	5.5872545787408E-5	0.01
18	31701199	T	A	18	34121235	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.48519371611462E-5	0.0
18	31701199	T	C	18	34121235	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.48519371611462E-5	0.0
18	31701199	T	G	18	34121235	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.48519371611462E-5	0.0
18	31701200	G	A	18	34121236	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	4.68952365742707E-5	0.044
18	31701200	G	C	18	34121236	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	4.68952365742707E-5	0.048
18	31701200	G	T	18	34121236	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	4.68952365742707E-5	0.046
18	31701279	C	A	18	34121315	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000591917:exon3:c.G194T:p.G65V;	4.87872098031522E-5	0.0
18	31701279	C	G	18	34121315	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000591917:exon3:c.G194C:p.G65A;	4.87872098031522E-5	0.028
18	31701279	C	T	18	34121315	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000591917:exon3:c.G194A:p.G65D;	4.87872098031522E-5	0.0
18	31701280	C	A	18	34121316	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000591917:exon3:c.G193T:p.G65C;	2.54157084608247E-5	0.0
18	31701280	C	G	18	34121316	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000591917:exon3:c.G193C:p.G65R;	2.54157084608247E-5	0.0
18	31701280	C	T	18	34121316	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000591917:exon3:c.G193A:p.G65S;	2.54157084608247E-5	0.0
18	31701281	C	A	18	34121317	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.193-1G>T)	.	.	4.08802802279601E-5	0.002
18	31701281	C	G	18	34121317	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.193-1G>C)	.	.	4.08802802279601E-5	0.0
18	31701281	C	T	18	34121317	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.193-1G>A)	.	.	8.49702646665041E-5	0.004
18	31701282	T	A	18	34121318	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.193-2A>T)	.	.	3.1877777554816E-5	0.0
18	31701282	T	C	18	34121318	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.193-2A>G)	.	.	3.1877777554816E-5	0.0
18	31701282	T	G	18	34121318	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000591917:exon4:c.193-2A>C)	.	.	3.1877777554816E-5	0.0
18	31701283	A	C	18	34121319	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.29409940438522E-5	0.0
18	31701283	A	G	18	34121319	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.29409940438522E-5	0.0
18	31701283	A	T	18	34121319	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.29409940438522E-5	0.0
18	31701284	G	A	18	34121320	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.78864525412067E-5	0.0
18	31701284	G	C	18	34121320	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.78864525412067E-5	0.0
18	31701284	G	T	18	34121320	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.78864525412067E-5	0.0
18	31701285	G	A	18	34121321	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.73477007530828E-5	0.006
18	31701285	G	C	18	34121321	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.24015432087519E-5	0.006
18	31701285	G	T	18	34121321	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.73477007530828E-5	0.006
18	31701286	G	A	18	34121322	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.03640525457558E-5	0.012
18	31701286	G	C	18	34121322	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.73477007530828E-5	0.006
18	31701286	G	T	18	34121322	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.73477007530828E-5	0.01
18	31701287	G	A	18	34121323	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.34150215537742E-5	0.0
18	31701287	G	C	18	34121323	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.38863475275964E-5	0.0
18	31701287	G	T	18	34121323	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.38863475275964E-5	0.0
18	31701288	A	C	18	34121324	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.54583771157E-5	0.002
18	31701288	A	G	18	34121324	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.54583771157E-5	0.002
18	31701288	A	T	18	34121324	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.25211152755068E-5	0.002
18	31701289	G	A	18	34121325	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.75289494538373E-5	0.002
18	31701289	G	C	18	34121325	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.52932449848953E-5	0.002
18	31701289	G	T	18	34121325	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.75289494538373E-5	0.002
18	31701290	A	C	18	34121326	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.06520082605731E-4	0.0
18	31701290	A	G	18	34121326	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.06520082605731E-4	0.0
18	31701290	A	T	18	34121326	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.17564447662592E-4	0.0
18	31701291	A	C	18	34121327	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.71108049909453E-5	0.02
18	31701291	A	G	18	34121327	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.71108049909453E-5	0.02
18	31701291	A	T	18	34121327	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.65602961808381E-4	0.02
18	31701292	C	A	18	34121328	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.70337218186484E-5	0.0
18	31701292	C	G	18	34121328	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.70337218186484E-5	0.0
18	31701292	C	T	18	34121328	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.70337218186484E-5	0.0
18	31708805	A	C	18	34128841	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00493089128035242	0.014
18	31708805	A	G	18	34128841	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00493089128035242	0.014
18	31708805	A	T	18	34128841	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00727968153200452	0.014
18	31708806	T	A	18	34128842	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00727968153200452	0.018
18	31708806	T	C	18	34128842	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00727968153200452	0.014
18	31708806	T	G	18	34128842	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00727968153200452	0.014
18	31708807	A	C	18	34128843	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0074211786276047	0.024
18	31708807	A	G	18	34128843	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0074211786276047	0.022
18	31708807	A	T	18	34128843	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0074211786276047	0.028
18	31708808	G	A	18	34128844	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.39826558468951E-5	0.01
18	31708808	G	C	18	34128844	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.45170072801036E-5	0.01
18	31708808	G	T	18	34128844	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.45170072801036E-5	0.01
18	31708809	G	A	18	34128845	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00720842856246748	0.022
18	31708809	G	C	18	34128845	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00720842856246748	0.026
18	31708809	G	T	18	34128845	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00720842856246748	0.03
18	31708810	T	A	18	34128846	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0074211786276047	0.028
18	31708810	T	C	18	34128846	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0074211786276047	0.018
18	31708810	T	G	18	34128846	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0074211786276047	0.02
18	31708811	A	C	18	34128847	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.233+2T>G)	.	.	0.46839655400052	0.608
18	31708811	A	G	18	34128847	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.233+2T>C)	.	.	0.46839655400052	0.604
18	31708811	A	T	18	34128847	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.233+2T>A)	.	.	0.63328944856031	0.666
18	31708812	C	A	18	34128848	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.233+1G>T)	.	.	0.988420376663552	0.87
18	31708812	C	G	18	34128848	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.233+1G>C)	.	.	0.988420376663552	0.86
18	31708812	C	T	18	34128848	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.233+1G>A)	.	.	0.988420376663552	0.866
18	31708813	C	A	18	34128849	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.0118721215473808	0.034
18	31708813	C	G	18	34128849	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.0118721215473808	0.028
18	31708813	C	T	18	34128849	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.0118721215473808	0.036
18	31708814	T	A	18	34128850	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.0074211786276047	0.028
18	31708814	T	C	18	34128850	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.0074211786276047	0.02
18	31708814	T	G	18	34128850	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.0074211786276047	0.022
18	31708815	G	A	18	34128851	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.0106305152589279	0.032
18	31708815	G	C	18	34128851	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.00720842856246748	0.052
18	31708815	G	T	18	34128851	y	y	UTR5	NOL4	.	.	UTR5;UTR3	ENSG00000101746;ENSG00000101746	.	.	0.0106305152589279	0.024
18	31708852	A	C	18	34128888	y	y	UTR5	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586314:exon3:c.T194G:p.I65R;	0.00712145416375606	0.02
18	31708852	A	G	18	34128888	y	y	UTR5	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586314:exon3:c.T194C:p.I65T;	0.00712145416375606	0.016
18	31708852	A	T	18	34128888	y	y	UTR5	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586314:exon3:c.T194A:p.I65K;	0.00712145416375606	0.026
18	31708853	T	A	18	34128889	y	y	UTR5	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586314:exon3:c.A193T:p.I65L;	0.0105600235457959	0.026
18	31708853	T	C	18	34128889	y	y	UTR5	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586314:exon3:c.A193G:p.I65V;	0.012179125450082	0.026
18	31708853	T	G	18	34128889	y	y	UTR5	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586314:exon3:c.A193C:p.I65L;	0.012179125450082	0.026
18	31708854	C	A	18	34128890	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.193-1G>T)	.	.	0.967365239243294	0.814
18	31708854	C	G	18	34128890	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.193-1G>C)	.	.	0.953078543516208	0.766
18	31708854	C	T	18	34128890	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.193-1G>A)	.	.	0.986501615825872	0.88
18	31708855	T	A	18	34128891	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.193-2A>T)	.	.	0.804647824592562	0.676
18	31708855	T	C	18	34128891	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.193-2A>G)	.	.	0.804647824592562	0.672
18	31708855	T	G	18	34128891	y	y	splicing	NOL4	.	.	splicing	ENSG00000101746(ENST00000586314:exon4:c.193-2A>C)	.	.	0.804647824592562	0.674
18	31708856	G	A	18	34128892	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0123696162114533	0.048
18	31708856	G	C	18	34128892	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00951124187736697	0.052
18	31708856	G	T	18	34128892	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0123696162114533	0.05
18	31708857	A	C	18	34128893	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0069856315932627	0.018
18	31708857	A	G	18	34128893	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0069856315932627	0.018
18	31708857	A	T	18	34128893	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00712145416375606	0.02
18	31708858	A	C	18	34128894	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00473126442337914	0.046
18	31708858	A	G	18	34128894	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00473126442337914	0.024
18	31708858	A	T	18	34128894	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0069856315932627	0.02
18	31708859	A	C	18	34128895	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00473126442337914	0.016
18	31708859	A	G	18	34128895	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00473126442337914	0.034
18	31708859	A	T	18	34128895	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00473126442337914	0.02
18	31708860	A	C	18	34128896	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0069856315932627	0.018
18	31708860	A	G	18	34128896	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0069856315932627	0.018
18	31708860	A	T	18	34128896	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00712145416375606	0.022
18	31708861	A	C	18	34128897	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0069856315932627	0.018
18	31708861	A	G	18	34128897	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0069856315932627	0.018
18	31708861	A	T	18	34128897	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00712145416375606	0.022
18	31708862	A	C	18	34128898	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.68
18	31708862	A	G	18	34128898	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.68
18	31708862	A	T	18	34128898	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.668
18	31708863	A	C	18	34128899	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.662
18	31708863	A	G	18	34128899	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.662
18	31708863	A	T	18	34128899	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.642
18	31708864	A	C	18	34128900	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.662
18	31708864	A	G	18	34128900	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.662
18	31708864	A	T	18	34128900	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.648
18	31708865	A	C	18	34128901	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.67
18	31708865	A	G	18	34128901	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.672
18	31708865	A	T	18	34128901	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.804647824592562	0.682
18	31709827	T	A	18	34129863	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.94963497436958E-4	0.0
18	31709827	T	C	18	34129863	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.29887100961042E-4	0.0
18	31709827	T	G	18	34129863	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.13826918948054E-4	0.0
18	31709828	A	C	18	34129864	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.2777345682912E-4	0.004
18	31709828	A	G	18	34129864	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.30775901788895E-4	0.014
18	31709828	A	T	18	34129864	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.54673513599754E-5	0.004
18	31709829	A	C	18	34129865	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998322523773746	0.952
18	31709829	A	G	18	34129865	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.997907097388179	0.972
18	31709829	A	T	18	34129865	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.997436460526485	0.832
18	31709830	C	A	18	34129866	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999944687615056	0.978
18	31709830	C	G	18	34129866	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999960318116965	0.994
18	31709830	C	T	18	34129866	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999958006845191	0.998
18	31709831	T	A	18	34129867	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998306023771298	0.952
18	31709831	T	C	18	34129867	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998584958900894	0.974
18	31709831	T	G	18	34129867	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998974991196687	0.934
18	31709832	T	A	18	34129868	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999807272635446	0.964
18	31709832	T	C	18	34129868	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.98907598846873	0.554
18	31709832	T	G	18	34129868	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.999807272635446	0.966
18	31709833	A	C	18	34129869	y	y	splicing	NOL4(NM_003787:exon3:c.414+2T>G;NM_001198548:exon3:c.414+2T>G;NM_001198547:exon3:c.192+2T>G;NM_001198546:exon3:c.414+2T>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.414+2T>G;ENST00000269185:exon3:c.72+2T>G;ENST00000589544:exon3:c.414+2T>G;ENST00000586314:exon3:c.192+2T>G;ENST00000590712:exon3:c.366+2T>G;ENST00000538587:exon3:c.192+2T>G;ENST00000591917:exon3:c.192+2T>G;ENST00000586309:exon4:c.301+2T>G)	.	.	0.999988247793601	0.93
18	31709833	A	G	18	34129869	y	y	splicing	NOL4(NM_003787:exon3:c.414+2T>C;NM_001198548:exon3:c.414+2T>C;NM_001198547:exon3:c.192+2T>C;NM_001198546:exon3:c.414+2T>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.414+2T>C;ENST00000269185:exon3:c.72+2T>C;ENST00000589544:exon3:c.414+2T>C;ENST00000586314:exon3:c.192+2T>C;ENST00000590712:exon3:c.366+2T>C;ENST00000538587:exon3:c.192+2T>C;ENST00000591917:exon3:c.192+2T>C;ENST00000586309:exon4:c.301+2T>C)	.	.	0.994669226766359	0.672
18	31709833	A	T	18	34129869	y	y	splicing	NOL4(NM_003787:exon3:c.414+2T>A;NM_001198548:exon3:c.414+2T>A;NM_001198547:exon3:c.192+2T>A;NM_001198546:exon3:c.414+2T>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.414+2T>A;ENST00000269185:exon3:c.72+2T>A;ENST00000589544:exon3:c.414+2T>A;ENST00000586314:exon3:c.192+2T>A;ENST00000590712:exon3:c.366+2T>A;ENST00000538587:exon3:c.192+2T>A;ENST00000591917:exon3:c.192+2T>A;ENST00000586309:exon4:c.301+2T>A)	.	.	0.999988247793601	0.93
18	31709834	C	A	18	34129870	y	y	splicing	NOL4(NM_003787:exon3:c.414+1G>T;NM_001198548:exon3:c.414+1G>T;NM_001198547:exon3:c.192+1G>T;NM_001198546:exon3:c.414+1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.414+1G>T;ENST00000269185:exon3:c.72+1G>T;ENST00000589544:exon3:c.414+1G>T;ENST00000586314:exon3:c.192+1G>T;ENST00000590712:exon3:c.366+1G>T;ENST00000538587:exon3:c.192+1G>T;ENST00000591917:exon3:c.192+1G>T;ENST00000586309:exon4:c.301+1G>T)	.	.	0.999989072007339	0.934
18	31709834	C	G	18	34129870	y	y	splicing	NOL4(NM_003787:exon3:c.414+1G>C;NM_001198548:exon3:c.414+1G>C;NM_001198547:exon3:c.192+1G>C;NM_001198546:exon3:c.414+1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.414+1G>C;ENST00000269185:exon3:c.72+1G>C;ENST00000589544:exon3:c.414+1G>C;ENST00000586314:exon3:c.192+1G>C;ENST00000590712:exon3:c.366+1G>C;ENST00000538587:exon3:c.192+1G>C;ENST00000591917:exon3:c.192+1G>C;ENST00000586309:exon4:c.301+1G>C)	.	.	0.999989072007339	0.934
18	31709834	C	T	18	34129870	y	y	splicing	NOL4(NM_003787:exon3:c.414+1G>A;NM_001198548:exon3:c.414+1G>A;NM_001198547:exon3:c.192+1G>A;NM_001198546:exon3:c.414+1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.414+1G>A;ENST00000269185:exon3:c.72+1G>A;ENST00000589544:exon3:c.414+1G>A;ENST00000586314:exon3:c.192+1G>A;ENST00000590712:exon3:c.366+1G>A;ENST00000538587:exon3:c.192+1G>A;ENST00000591917:exon3:c.192+1G>A;ENST00000586309:exon4:c.301+1G>A)	.	.	0.999989072007339	0.934
18	31709835	T	A	18	34129871	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon2:c.A192T:p.A64A;NOL4:NM_003787:exon2:c.A414T:p.A138A;NOL4:NM_001198548:exon2:c.A414T:p.A138A;NOL4:NM_001198546:exon2:c.A414T:p.A138A;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.A192T:p.A64A;ENSG00000101746:ENST00000591917:exon2:c.A192T:p.A64A;ENSG00000101746:ENST00000590712:exon2:c.A366T:p.A122A;ENSG00000101746:ENST00000589544:exon2:c.A414T:p.A138A;ENSG00000101746:ENST00000261592:exon2:c.A414T:p.A138A;ENSG00000101746:ENST00000586314:exon2:c.A192T:p.A64A;ENSG00000101746:ENST00000269185:exon2:c.A72T:p.A24A;	0.00124380368768377	0.088
18	31709835	T	C	18	34129871	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon2:c.A192G:p.A64A;NOL4:NM_003787:exon2:c.A414G:p.A138A;NOL4:NM_001198548:exon2:c.A414G:p.A138A;NOL4:NM_001198546:exon2:c.A414G:p.A138A;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.A192G:p.A64A;ENSG00000101746:ENST00000591917:exon2:c.A192G:p.A64A;ENSG00000101746:ENST00000590712:exon2:c.A366G:p.A122A;ENSG00000101746:ENST00000589544:exon2:c.A414G:p.A138A;ENSG00000101746:ENST00000261592:exon2:c.A414G:p.A138A;ENSG00000101746:ENST00000586314:exon2:c.A192G:p.A64A;ENSG00000101746:ENST00000269185:exon2:c.A72G:p.A24A;	2.86708000569341E-4	0.062
18	31709835	T	G	18	34129871	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon2:c.A192C:p.A64A;NOL4:NM_003787:exon2:c.A414C:p.A138A;NOL4:NM_001198548:exon2:c.A414C:p.A138A;NOL4:NM_001198546:exon2:c.A414C:p.A138A;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.A192C:p.A64A;ENSG00000101746:ENST00000591917:exon2:c.A192C:p.A64A;ENSG00000101746:ENST00000590712:exon2:c.A366C:p.A122A;ENSG00000101746:ENST00000589544:exon2:c.A414C:p.A138A;ENSG00000101746:ENST00000261592:exon2:c.A414C:p.A138A;ENSG00000101746:ENST00000586314:exon2:c.A192C:p.A64A;ENSG00000101746:ENST00000269185:exon2:c.A72C:p.A24A;	7.80906353361046E-4	0.02
18	31709836	G	A	18	34129872	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.C191T:p.A64V;NOL4:NM_003787:exon2:c.C413T:p.A138V;NOL4:NM_001198548:exon2:c.C413T:p.A138V;NOL4:NM_001198546:exon2:c.C413T:p.A138V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.C191T:p.A64V;ENSG00000101746:ENST00000591917:exon2:c.C191T:p.A64V;ENSG00000101746:ENST00000590712:exon2:c.C365T:p.A122V;ENSG00000101746:ENST00000589544:exon2:c.C413T:p.A138V;ENSG00000101746:ENST00000261592:exon2:c.C413T:p.A138V;ENSG00000101746:ENST00000586314:exon2:c.C191T:p.A64V;ENSG00000101746:ENST00000269185:exon2:c.C71T:p.A24V;	0.992972997373326	0.894
18	31709836	G	C	18	34129872	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.C191G:p.A64G;NOL4:NM_003787:exon2:c.C413G:p.A138G;NOL4:NM_001198548:exon2:c.C413G:p.A138G;NOL4:NM_001198546:exon2:c.C413G:p.A138G;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.C191G:p.A64G;ENSG00000101746:ENST00000591917:exon2:c.C191G:p.A64G;ENSG00000101746:ENST00000590712:exon2:c.C365G:p.A122G;ENSG00000101746:ENST00000589544:exon2:c.C413G:p.A138G;ENSG00000101746:ENST00000261592:exon2:c.C413G:p.A138G;ENSG00000101746:ENST00000586314:exon2:c.C191G:p.A64G;ENSG00000101746:ENST00000269185:exon2:c.C71G:p.A24G;	0.982914793524643	0.914
18	31709836	G	T	18	34129872	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.C191A:p.A64E;NOL4:NM_003787:exon2:c.C413A:p.A138E;NOL4:NM_001198548:exon2:c.C413A:p.A138E;NOL4:NM_001198546:exon2:c.C413A:p.A138E;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.C191A:p.A64E;ENSG00000101746:ENST00000591917:exon2:c.C191A:p.A64E;ENSG00000101746:ENST00000590712:exon2:c.C365A:p.A122E;ENSG00000101746:ENST00000589544:exon2:c.C413A:p.A138E;ENSG00000101746:ENST00000261592:exon2:c.C413A:p.A138E;ENSG00000101746:ENST00000586314:exon2:c.C191A:p.A64E;ENSG00000101746:ENST00000269185:exon2:c.C71A:p.A24E;	0.96383243913098	0.716
18	31709837	C	A	18	34129873	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.G190T:p.A64S;NOL4:NM_003787:exon2:c.G412T:p.A138S;NOL4:NM_001198548:exon2:c.G412T:p.A138S;NOL4:NM_001198546:exon2:c.G412T:p.A138S;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.G190T:p.A64S;ENSG00000101746:ENST00000591917:exon2:c.G190T:p.A64S;ENSG00000101746:ENST00000590712:exon2:c.G364T:p.A122S;ENSG00000101746:ENST00000589544:exon2:c.G412T:p.A138S;ENSG00000101746:ENST00000261592:exon2:c.G412T:p.A138S;ENSG00000101746:ENST00000586314:exon2:c.G190T:p.A64S;ENSG00000101746:ENST00000269185:exon2:c.G70T:p.A24S;	0.988190398953159	0.888
18	31709837	C	G	18	34129873	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.G190C:p.A64P;NOL4:NM_003787:exon2:c.G412C:p.A138P;NOL4:NM_001198548:exon2:c.G412C:p.A138P;NOL4:NM_001198546:exon2:c.G412C:p.A138P;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.G190C:p.A64P;ENSG00000101746:ENST00000591917:exon2:c.G190C:p.A64P;ENSG00000101746:ENST00000590712:exon2:c.G364C:p.A122P;ENSG00000101746:ENST00000589544:exon2:c.G412C:p.A138P;ENSG00000101746:ENST00000261592:exon2:c.G412C:p.A138P;ENSG00000101746:ENST00000586314:exon2:c.G190C:p.A64P;ENSG00000101746:ENST00000269185:exon2:c.G70C:p.A24P;	0.959916727167271	0.762
18	31709837	C	T	18	34129873	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.G190A:p.A64T;NOL4:NM_003787:exon2:c.G412A:p.A138T;NOL4:NM_001198548:exon2:c.G412A:p.A138T;NOL4:NM_001198546:exon2:c.G412A:p.A138T;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.G190A:p.A64T;ENSG00000101746:ENST00000591917:exon2:c.G190A:p.A64T;ENSG00000101746:ENST00000590712:exon2:c.G364A:p.A122T;ENSG00000101746:ENST00000589544:exon2:c.G412A:p.A138T;ENSG00000101746:ENST00000261592:exon2:c.G412A:p.A138T;ENSG00000101746:ENST00000586314:exon2:c.G190A:p.A64T;ENSG00000101746:ENST00000269185:exon2:c.G70A:p.A24T;	0.959916727167271	0.768
18	31709983	T	A	18	34130019	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.A44T:p.D15V;NOL4:NM_003787:exon2:c.A266T:p.D89V;NOL4:NM_001198548:exon2:c.A266T:p.D89V;NOL4:NM_001198546:exon2:c.A266T:p.D89V;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.A44T:p.D15V;ENSG00000101746:ENST00000591917:exon2:c.A44T:p.D15V;ENSG00000101746:ENST00000590712:exon2:c.A218T:p.D73V;ENSG00000101746:ENST00000589544:exon2:c.A266T:p.D89V;ENSG00000101746:ENST00000261592:exon2:c.A266T:p.D89V;ENSG00000101746:ENST00000586314:exon2:c.A44T:p.D15V;	0.709785300124568	0.662
18	31709983	T	C	18	34130019	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.A44G:p.D15G;NOL4:NM_003787:exon2:c.A266G:p.D89G;NOL4:NM_001198548:exon2:c.A266G:p.D89G;NOL4:NM_001198546:exon2:c.A266G:p.D89G;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.A44G:p.D15G;ENSG00000101746:ENST00000591917:exon2:c.A44G:p.D15G;ENSG00000101746:ENST00000590712:exon2:c.A218G:p.D73G;ENSG00000101746:ENST00000589544:exon2:c.A266G:p.D89G;ENSG00000101746:ENST00000261592:exon2:c.A266G:p.D89G;ENSG00000101746:ENST00000586314:exon2:c.A44G:p.D15G;	0.85655399819096	0.444
18	31709983	T	G	18	34130019	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.A44C:p.D15A;NOL4:NM_003787:exon2:c.A266C:p.D89A;NOL4:NM_001198548:exon2:c.A266C:p.D89A;NOL4:NM_001198546:exon2:c.A266C:p.D89A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.A44C:p.D15A;ENSG00000101746:ENST00000591917:exon2:c.A44C:p.D15A;ENSG00000101746:ENST00000590712:exon2:c.A218C:p.D73A;ENSG00000101746:ENST00000589544:exon2:c.A266C:p.D89A;ENSG00000101746:ENST00000261592:exon2:c.A266C:p.D89A;ENSG00000101746:ENST00000586314:exon2:c.A44C:p.D15A;	0.886609918825192	0.754
18	31709984	C	A	18	34130020	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.G43T:p.D15Y;NOL4:NM_003787:exon2:c.G265T:p.D89Y;NOL4:NM_001198548:exon2:c.G265T:p.D89Y;NOL4:NM_001198546:exon2:c.G265T:p.D89Y;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.G43T:p.D15Y;ENSG00000101746:ENST00000591917:exon2:c.G43T:p.D15Y;ENSG00000101746:ENST00000590712:exon2:c.G217T:p.D73Y;ENSG00000101746:ENST00000589544:exon2:c.G265T:p.D89Y;ENSG00000101746:ENST00000261592:exon2:c.G265T:p.D89Y;ENSG00000101746:ENST00000586314:exon2:c.G43T:p.D15Y;	0.999816999189914	0.934
18	31709984	C	G	18	34130020	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.G43C:p.D15H;NOL4:NM_003787:exon2:c.G265C:p.D89H;NOL4:NM_001198548:exon2:c.G265C:p.D89H;NOL4:NM_001198546:exon2:c.G265C:p.D89H;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.G43C:p.D15H;ENSG00000101746:ENST00000591917:exon2:c.G43C:p.D15H;ENSG00000101746:ENST00000590712:exon2:c.G217C:p.D73H;ENSG00000101746:ENST00000589544:exon2:c.G265C:p.D89H;ENSG00000101746:ENST00000261592:exon2:c.G265C:p.D89H;ENSG00000101746:ENST00000586314:exon2:c.G43C:p.D15H;	0.999833533111868	0.928
18	31709984	C	T	18	34130020	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon2:c.G43A:p.D15N;NOL4:NM_003787:exon2:c.G265A:p.D89N;NOL4:NM_001198548:exon2:c.G265A:p.D89N;NOL4:NM_001198546:exon2:c.G265A:p.D89N;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon2:c.G43A:p.D15N;ENSG00000101746:ENST00000591917:exon2:c.G43A:p.D15N;ENSG00000101746:ENST00000590712:exon2:c.G217A:p.D73N;ENSG00000101746:ENST00000589544:exon2:c.G265A:p.D89N;ENSG00000101746:ENST00000261592:exon2:c.G265A:p.D89N;ENSG00000101746:ENST00000586314:exon2:c.G43A:p.D15N;	0.99782194102906	0.862
18	31709985	C	A	18	34130021	y	y	splicing	NOL4(NM_003787:exon3:c.265-1G>T;NM_001198548:exon3:c.265-1G>T;NM_001198547:exon3:c.43-1G>T;NM_001198546:exon3:c.265-1G>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.265-1G>T;ENST00000589544:exon3:c.265-1G>T;ENST00000586314:exon3:c.43-1G>T;ENST00000590712:exon3:c.217-1G>T;ENST00000538587:exon3:c.43-1G>T;ENST00000591917:exon3:c.43-1G>T;ENST00000586309:exon4:c.152-1G>T)	.	.	0.999989072007339	0.934
18	31709985	C	G	18	34130021	y	y	splicing	NOL4(NM_003787:exon3:c.265-1G>C;NM_001198548:exon3:c.265-1G>C;NM_001198547:exon3:c.43-1G>C;NM_001198546:exon3:c.265-1G>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.265-1G>C;ENST00000589544:exon3:c.265-1G>C;ENST00000586314:exon3:c.43-1G>C;ENST00000590712:exon3:c.217-1G>C;ENST00000538587:exon3:c.43-1G>C;ENST00000591917:exon3:c.43-1G>C;ENST00000586309:exon4:c.152-1G>C)	.	.	0.999989072007339	0.934
18	31709985	C	T	18	34130021	y	y	splicing	NOL4(NM_003787:exon3:c.265-1G>A;NM_001198548:exon3:c.265-1G>A;NM_001198547:exon3:c.43-1G>A;NM_001198546:exon3:c.265-1G>A)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.265-1G>A;ENST00000589544:exon3:c.265-1G>A;ENST00000586314:exon3:c.43-1G>A;ENST00000590712:exon3:c.217-1G>A;ENST00000538587:exon3:c.43-1G>A;ENST00000591917:exon3:c.43-1G>A;ENST00000586309:exon4:c.152-1G>A)	.	.	0.999989072007339	0.934
18	31709986	T	A	18	34130022	y	y	splicing	NOL4(NM_003787:exon3:c.265-2A>T;NM_001198548:exon3:c.265-2A>T;NM_001198547:exon3:c.43-2A>T;NM_001198546:exon3:c.265-2A>T)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.265-2A>T;ENST00000589544:exon3:c.265-2A>T;ENST00000586314:exon3:c.43-2A>T;ENST00000590712:exon3:c.217-2A>T;ENST00000538587:exon3:c.43-2A>T;ENST00000591917:exon3:c.43-2A>T;ENST00000586309:exon4:c.152-2A>T)	.	.	0.999988247793601	0.93
18	31709986	T	C	18	34130022	y	y	splicing	NOL4(NM_003787:exon3:c.265-2A>G;NM_001198548:exon3:c.265-2A>G;NM_001198547:exon3:c.43-2A>G;NM_001198546:exon3:c.265-2A>G)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.265-2A>G;ENST00000589544:exon3:c.265-2A>G;ENST00000586314:exon3:c.43-2A>G;ENST00000590712:exon3:c.217-2A>G;ENST00000538587:exon3:c.43-2A>G;ENST00000591917:exon3:c.43-2A>G;ENST00000586309:exon4:c.152-2A>G)	.	.	0.999988247793601	0.93
18	31709986	T	G	18	34130022	y	y	splicing	NOL4(NM_003787:exon3:c.265-2A>C;NM_001198548:exon3:c.265-2A>C;NM_001198547:exon3:c.43-2A>C;NM_001198546:exon3:c.265-2A>C)	.	.	splicing	ENSG00000101746(ENST00000261592:exon3:c.265-2A>C;ENST00000589544:exon3:c.265-2A>C;ENST00000586314:exon3:c.43-2A>C;ENST00000590712:exon3:c.217-2A>C;ENST00000538587:exon3:c.43-2A>C;ENST00000591917:exon3:c.43-2A>C;ENST00000586309:exon4:c.152-2A>C)	.	.	0.999988247793601	0.93
18	31709987	G	A	18	34130023	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00104591195150373	0.05
18	31709987	G	C	18	34130023	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.957425242978472	0.666
18	31709987	G	T	18	34130023	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.513917954801533	0.36
18	31709988	G	A	18	34130024	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.57901147447649E-4	0.018
18	31709988	G	C	18	34130024	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.14828840227027E-5	0.008
18	31709988	G	T	18	34130024	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.56027440788646E-4	0.02
18	31709989	A	C	18	34130025	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.658191843629572	0.54
18	31709989	A	G	18	34130025	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.87046507205436E-4	0.042
18	31709989	A	T	18	34130025	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.120250256635693	0.456
18	31709990	A	C	18	34130026	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0607971030605797	0.264
18	31709990	A	G	18	34130026	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.38892161602811E-5	0.0
18	31709990	A	T	18	34130026	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0194370902256759	0.208
18	31709991	A	C	18	34130027	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00580532063123316	0.13
18	31709991	A	G	18	34130027	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.08394900548102E-5	0.004
18	31709991	A	T	18	34130027	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0154754742301444	0.196
18	31709992	C	A	18	34130028	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.59314570435588E-5	0.0
18	31709992	C	G	18	34130028	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.68652839425245E-5	0.02
18	31709992	C	T	18	34130028	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.43957922401896E-5	0.006
18	31709993	A	C	18	34130029	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00794282078931064	0.228
18	31709993	A	G	18	34130029	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.00363637965856E-4	0.006
18	31709993	A	T	18	34130029	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.998198067178336	0.948
18	31709994	A	C	18	34130030	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00367655403211432	0.192
18	31709994	A	G	18	34130030	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.3123897779159E-4	0.0
18	31709994	A	T	18	34130030	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0137005465845243	0.194
18	31709995	A	C	18	34130031	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0170213222037159	0.37
18	31709995	A	G	18	34130031	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.11922843140886E-4	0.068
18	31709995	A	T	18	34130031	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0640050480081521	0.346
18	31709996	A	C	18	34130032	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00116814844726573	0.072
18	31709996	A	G	18	34130032	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	6.53026578498516E-5	0.014
18	31709996	A	T	18	34130032	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00568593403702605	0.088
18	31763474	A	C	18	34183510	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.90066968634554E-5	0.008
18	31763474	A	G	18	34183510	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.90066968634554E-5	0.008
18	31763474	A	T	18	34183510	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.30513454744474E-5	0.002
18	31763475	A	C	18	34183511	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.72841159385093E-5	0.0
18	31763475	A	G	18	34183511	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.72841159385093E-5	0.0
18	31763475	A	T	18	34183511	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	5.65823046292135E-5	0.0
18	31763476	A	C	18	34183512	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00126098331752707	0.112
18	31763476	A	G	18	34183512	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00126098331752707	0.112
18	31763476	A	T	18	34183512	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0017733433396033	0.092
18	31763477	C	A	18	34183513	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	4.0665930348429E-4	0.004
18	31763477	C	G	18	34183513	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.51565364503696E-4	0.002
18	31763477	C	T	18	34183513	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.2547356595896E-4	0.002
18	31763478	T	A	18	34183514	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	7.5480235718294E-5	0.0
18	31763478	T	C	18	34183514	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.37184549953077E-4	0.0
18	31763478	T	G	18	34183514	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.37184549953077E-4	0.002
18	31763479	T	A	18	34183515	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00126098331752707	0.112
18	31763479	T	C	18	34183515	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.8432716504181E-4	0.112
18	31763479	T	G	18	34183515	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.8432716504181E-4	0.112
18	31763480	A	C	18	34183516	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.151+2T>G)	.	.	7.01315188657279E-5	0.0
18	31763480	A	G	18	34183516	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.151+2T>C)	.	.	7.01315188657279E-5	0.0
18	31763480	A	T	18	34183516	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.151+2T>A)	.	.	7.01315188657279E-5	0.0
18	31763481	C	A	18	34183517	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.151+1G>T)	.	.	8.50861351865397E-5	0.0
18	31763481	C	G	18	34183517	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.151+1G>C)	.	.	8.50861351865397E-5	0.002
18	31763481	C	T	18	34183517	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.151+1G>A)	.	.	9.39083642728588E-5	0.0
18	31763482	A	C	18	34183518	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.09202050356324E-4	0.004
18	31763482	A	G	18	34183518	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.09202050356324E-4	0.002
18	31763482	A	T	18	34183518	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	6.00832436904377E-5	0.0
18	31763483	T	A	18	34183519	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	7.5480235718294E-5	0.0
18	31763483	T	C	18	34183519	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.37184549953077E-4	0.0
18	31763483	T	G	18	34183519	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.37184549953077E-4	0.0
18	31763484	T	A	18	34183520	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	6.00832436904377E-5	0.0
18	31763484	T	C	18	34183520	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.09202050356324E-4	0.0
18	31763484	T	G	18	34183520	n	y	intronic	NOL4	.	.	UTR3	ENSG00000101746	.	.	1.09202050356324E-4	0.0
18	31763589	C	A	18	34183625	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586309:exon2:c.G44T:p.G15V;	8.67406312561927E-6	0.002
18	31763589	C	G	18	34183625	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586309:exon2:c.G44C:p.G15A;	8.67406312561927E-6	0.0
18	31763589	C	T	18	34183625	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586309:exon2:c.G44A:p.G15E;	8.67406312561927E-6	0.004
18	31763590	C	A	18	34183626	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	stopgain SNV	ENSG00000101746:ENST00000586309:exon2:c.G43T:p.G15X;	2.45277156108894E-5	0.002
18	31763590	C	G	18	34183626	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586309:exon2:c.G43C:p.G15R;	2.45277156108894E-5	0.002
18	31763590	C	T	18	34183626	n	y	intronic	NOL4	.	.	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000586309:exon2:c.G43A:p.G15R;	2.45277156108894E-5	0.002
18	31763591	C	A	18	34183627	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.43-1G>T)	.	.	1.46004206284423E-5	0.0
18	31763591	C	G	18	34183627	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.43-1G>C)	.	.	1.46004206284423E-5	0.0
18	31763591	C	T	18	34183627	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.43-1G>A)	.	.	1.46004206284423E-5	0.0
18	31763592	T	A	18	34183628	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.43-2A>T)	.	.	1.48367148474546E-5	0.004
18	31763592	T	C	18	34183628	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.43-2A>G)	.	.	1.37501361942679E-5	0.002
18	31763592	T	G	18	34183628	n	y	intronic	NOL4	.	.	splicing	ENSG00000101746(ENST00000586309:exon3:c.43-2A>C)	.	.	1.37501361942679E-5	0.002
18	31763593	A	C	18	34183629	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.48367148474546E-5	0.002
18	31763593	A	G	18	34183629	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.48367148474546E-5	0.002
18	31763593	A	T	18	34183629	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.52173701430229E-5	0.006
18	31763594	C	A	18	34183630	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.91754950667398E-5	0.0
18	31763594	C	G	18	34183630	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.91754950667398E-5	0.0
18	31763594	C	T	18	34183630	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.06907936306152E-5	0.0
18	31763595	A	C	18	34183631	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.38206837572038E-4	0.032
18	31763595	A	G	18	34183631	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.38206837572038E-4	0.036
18	31763595	A	T	18	34183631	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.38206837572038E-4	0.026
18	31763596	A	C	18	34183632	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.48367148474546E-5	0.004
18	31763596	A	G	18	34183632	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.48367148474546E-5	0.004
18	31763596	A	T	18	34183632	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.52173701430229E-5	0.006
18	31763597	A	C	18	34183633	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.48367148474546E-5	0.004
18	31763597	A	G	18	34183633	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.48367148474546E-5	0.004
18	31763597	A	T	18	34183633	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.52173701430229E-5	0.006
18	31763598	G	A	18	34183634	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.45277156108894E-5	0.0
18	31763598	G	C	18	34183634	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.45277156108894E-5	0.0
18	31763598	G	T	18	34183634	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	2.45277156108894E-5	0.0
18	31763599	A	C	18	34183635	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.95735775412773E-5	0.002
18	31763599	A	G	18	34183635	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.95735775412773E-5	0.002
18	31763599	A	T	18	34183635	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.95735775412773E-5	0.002
18	31763600	A	C	18	34183636	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.48367148474546E-5	0.0
18	31763600	A	G	18	34183636	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.48367148474546E-5	0.0
18	31763600	A	T	18	34183636	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	3.52173701430229E-5	0.008
18	31763601	A	C	18	34183637	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.58927937202005E-5	0.002
18	31763601	A	G	18	34183637	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.58927937202005E-5	0.002
18	31763601	A	T	18	34183637	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.58927937202005E-5	0.002
18	31763602	T	A	18	34183638	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.58927937202005E-5	0.002
18	31763602	T	C	18	34183638	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.58927937202005E-5	0.002
18	31763602	T	G	18	34183638	n	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.58927937202005E-5	0.002
18	31801976	G	A	18	34222012	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00108816074743402	0.024
18	31801976	G	C	18	34222012	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.17983391012012E-4	0.012
18	31801976	G	T	18	34222012	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	9.17983391012012E-4	0.012
18	31801977	T	A	18	34222013	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.91285012458584E-4	0.01
18	31801977	T	C	18	34222013	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.25679263643157E-4	0.002
18	31801977	T	G	18	34222013	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	1.25679263643157E-4	0.002
18	31801978	A	C	18	34222014	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0173156812338519	0.152
18	31801978	A	G	18	34222014	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0173156812338519	0.15
18	31801978	A	T	18	34222014	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0828263046075787	0.298
18	31801979	C	A	18	34222015	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0169741104462476	0.042
18	31801979	C	G	18	34222015	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.019557205456413	0.044
18	31801979	C	T	18	34222015	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.0203663321563806	0.048
18	31801980	C	A	18	34222016	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00211814652521417	0.04
18	31801980	C	G	18	34222016	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00211814652521417	0.028
18	31801980	C	T	18	34222016	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	0.00192196263159328	0.014
18	31801981	C	A	18	34222017	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.8551835119743E-4	0.01
18	31801981	C	G	18	34222017	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.8551835119743E-4	0.016
18	31801981	C	T	18	34222017	y	y	intronic	NOL4	.	.	intronic	ENSG00000101746	.	.	8.8551835119743E-4	0.01
18	31801982	A	C	18	34222018	y	y	splicing	NOL4(NM_001198547:exon2:c.42+2T>G)	.	.	splicing	ENSG00000101746(ENST00000586314:exon2:c.42+2T>G;ENST00000538587:exon2:c.42+2T>G;ENST00000591917:exon2:c.42+2T>G;ENST00000586309:exon2:c.42+2T>G)	.	.	3.95882241832219E-4	0.008
18	31801982	A	G	18	34222018	y	y	splicing	NOL4(NM_001198547:exon2:c.42+2T>C)	.	.	splicing	ENSG00000101746(ENST00000586314:exon2:c.42+2T>C;ENST00000538587:exon2:c.42+2T>C;ENST00000591917:exon2:c.42+2T>C;ENST00000586309:exon2:c.42+2T>C)	.	.	3.56644708667543E-4	0.004
18	31801982	A	T	18	34222018	y	y	splicing	NOL4(NM_001198547:exon2:c.42+2T>A)	.	.	splicing	ENSG00000101746(ENST00000586314:exon2:c.42+2T>A;ENST00000538587:exon2:c.42+2T>A;ENST00000591917:exon2:c.42+2T>A;ENST00000586309:exon2:c.42+2T>A)	.	.	5.48204592484763E-4	0.07
18	31801983	C	A	18	34222019	y	y	splicing	NOL4(NM_001198547:exon2:c.42+1G>T)	.	.	splicing	ENSG00000101746(ENST00000586314:exon2:c.42+1G>T;ENST00000538587:exon2:c.42+1G>T;ENST00000591917:exon2:c.42+1G>T;ENST00000586309:exon2:c.42+1G>T)	.	.	0.767085180236933	0.652
18	31801983	C	G	18	34222019	y	y	splicing	NOL4(NM_001198547:exon2:c.42+1G>C)	.	.	splicing	ENSG00000101746(ENST00000586314:exon2:c.42+1G>C;ENST00000538587:exon2:c.42+1G>C;ENST00000591917:exon2:c.42+1G>C;ENST00000586309:exon2:c.42+1G>C)	.	.	0.640944614863228	0.51
18	31801983	C	T	18	34222019	y	y	splicing	NOL4(NM_001198547:exon2:c.42+1G>A)	.	.	splicing	ENSG00000101746(ENST00000586314:exon2:c.42+1G>A;ENST00000538587:exon2:c.42+1G>A;ENST00000591917:exon2:c.42+1G>A;ENST00000586309:exon2:c.42+1G>A)	.	.	0.849231125831134	0.604
18	31801984	C	A	18	34222020	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon1:c.G42T:p.T14T;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.G42T:p.T14T;ENSG00000101746:ENST00000591917:exon1:c.G42T:p.T14T;ENSG00000101746:ENST00000586314:exon1:c.G42T:p.T14T;ENSG00000101746:ENST00000586309:exon1:c.G42T:p.T14T;	0.0312450068205507	0.05
18	31801984	C	G	18	34222020	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon1:c.G42C:p.T14T;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.G42C:p.T14T;ENSG00000101746:ENST00000591917:exon1:c.G42C:p.T14T;ENSG00000101746:ENST00000586314:exon1:c.G42C:p.T14T;ENSG00000101746:ENST00000586309:exon1:c.G42C:p.T14T;	0.0203663321563806	0.046
18	31801984	C	T	18	34222020	y	y	exonic	NOL4	synonymous SNV	NOL4:NM_001198547:exon1:c.G42A:p.T14T;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.G42A:p.T14T;ENSG00000101746:ENST00000591917:exon1:c.G42A:p.T14T;ENSG00000101746:ENST00000586314:exon1:c.G42A:p.T14T;ENSG00000101746:ENST00000586309:exon1:c.G42A:p.T14T;	0.0312450068205507	0.068
18	31801985	G	A	18	34222021	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon1:c.C41T:p.T14M;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.C41T:p.T14M;ENSG00000101746:ENST00000591917:exon1:c.C41T:p.T14M;ENSG00000101746:ENST00000586314:exon1:c.C41T:p.T14M;ENSG00000101746:ENST00000586309:exon1:c.C41T:p.T14M;	1.44890220172881E-4	0.016
18	31801985	G	C	18	34222021	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon1:c.C41G:p.T14R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.C41G:p.T14R;ENSG00000101746:ENST00000591917:exon1:c.C41G:p.T14R;ENSG00000101746:ENST00000586314:exon1:c.C41G:p.T14R;ENSG00000101746:ENST00000586309:exon1:c.C41G:p.T14R;	1.46413180592529E-4	0.012
18	31801985	G	T	18	34222021	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon1:c.C41A:p.T14K;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.C41A:p.T14K;ENSG00000101746:ENST00000591917:exon1:c.C41A:p.T14K;ENSG00000101746:ENST00000586314:exon1:c.C41A:p.T14K;ENSG00000101746:ENST00000586309:exon1:c.C41A:p.T14K;	1.04216853070732E-4	0.006
18	31801986	T	A	18	34222022	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon1:c.A40T:p.T14S;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.A40T:p.T14S;ENSG00000101746:ENST00000591917:exon1:c.A40T:p.T14S;ENSG00000101746:ENST00000586314:exon1:c.A40T:p.T14S;ENSG00000101746:ENST00000586309:exon1:c.A40T:p.T14S;	1.77978745885032E-4	0.002
18	31801986	T	C	18	34222022	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon1:c.A40G:p.T14A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.A40G:p.T14A;ENSG00000101746:ENST00000591917:exon1:c.A40G:p.T14A;ENSG00000101746:ENST00000586314:exon1:c.A40G:p.T14A;ENSG00000101746:ENST00000586309:exon1:c.A40G:p.T14A;	3.49910570311912E-5	0.048
18	31801986	T	G	18	34222022	y	y	exonic	NOL4	nonsynonymous SNV	NOL4:NM_001198547:exon1:c.A40C:p.T14P;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000538587:exon1:c.A40C:p.T14P;ENSG00000101746:ENST00000591917:exon1:c.A40C:p.T14P;ENSG00000101746:ENST00000586314:exon1:c.A40C:p.T14P;ENSG00000101746:ENST00000586309:exon1:c.A40C:p.T14P;	9.80257671126134E-4	0.008
18	31802946	T	A	18	34222982	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.00108632460492271	0.006
18	31802946	T	C	18	34222982	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	3.20898346137904E-4	0.004
18	31802946	T	G	18	34222982	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.00108632460492271	0.026
18	31802947	C	A	18	34222983	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.00127923335830091	0.012
18	31802947	C	G	18	34222983	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.00237438147761787	0.01
18	31802947	C	T	18	34222983	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.00127923335830091	0.008
18	31802948	A	C	18	34222984	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.0656969927633708	0.37
18	31802948	A	G	18	34222984	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.22242545386785	0.414
18	31802948	A	T	18	34222984	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.200519640245918	0.528
18	31802949	C	A	18	34222985	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999006304897693	0.882
18	31802949	C	G	18	34222985	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999713797202245	0.958
18	31802949	C	T	18	34222985	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999881346315339	0.968
18	31802950	T	A	18	34222986	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.993097041554083	0.882
18	31802950	T	C	18	34222986	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.991198341936087	0.836
18	31802950	T	G	18	34222986	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.963627440474383	0.728
18	31802951	C	A	18	34222987	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.700865687569161	0.52
18	31802951	C	G	18	34222987	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.786692480215003	0.514
18	31802951	C	T	18	34222987	y	n	intronic	NOL4	.	.	ncRNA_exonic	ENSG00000267746	.	.	6.2018230397591E-4	0.006
18	31802952	A	C	18	34222988	y	n	splicing	NOL4(NM_003787:exon2:c.264+2T>G;NM_001198548:exon2:c.264+2T>G;NM_001198546:exon2:c.264+2T>G)	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999981808176352	0.918
18	31802952	A	G	18	34222988	y	n	splicing	NOL4(NM_003787:exon2:c.264+2T>C;NM_001198548:exon2:c.264+2T>C;NM_001198546:exon2:c.264+2T>C)	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999942617743056	0.884
18	31802952	A	T	18	34222988	y	n	splicing	NOL4(NM_003787:exon2:c.264+2T>A;NM_001198548:exon2:c.264+2T>A;NM_001198546:exon2:c.264+2T>A)	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999981808176352	0.918
18	31802953	C	A	18	34222989	y	n	splicing	NOL4(NM_003787:exon2:c.264+1G>T;NM_001198548:exon2:c.264+1G>T;NM_001198546:exon2:c.264+1G>T)	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999989072007339	0.932
18	31802953	C	G	18	34222989	y	n	splicing	NOL4(NM_003787:exon2:c.264+1G>C;NM_001198548:exon2:c.264+1G>C;NM_001198546:exon2:c.264+1G>C)	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999989072007339	0.932
18	31802953	C	T	18	34222989	y	n	splicing	NOL4(NM_003787:exon2:c.264+1G>A;NM_001198548:exon2:c.264+1G>A;NM_001198546:exon2:c.264+1G>A)	.	.	ncRNA_exonic	ENSG00000267746	.	.	0.999989072007339	0.932
18	31802954	C	A	18	34222990	y	n	exonic	NOL4	synonymous SNV	NOL4:NM_003787:exon1:c.G264T:p.T88T;NOL4:NM_001198548:exon1:c.G264T:p.T88T;NOL4:NM_001198546:exon1:c.G264T:p.T88T;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.G216T:p.T72T;ENSG00000101746:ENST00000589544:exon1:c.G264T:p.T88T;ENSG00000101746:ENST00000261592:exon1:c.G264T:p.T88T;	0.999573673598486	0.948
18	31802954	C	G	18	34222990	y	n	exonic	NOL4	synonymous SNV	NOL4:NM_003787:exon1:c.G264C:p.T88T;NOL4:NM_001198548:exon1:c.G264C:p.T88T;NOL4:NM_001198546:exon1:c.G264C:p.T88T;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.G216C:p.T72T;ENSG00000101746:ENST00000589544:exon1:c.G264C:p.T88T;ENSG00000101746:ENST00000261592:exon1:c.G264C:p.T88T;	0.99986751540711	0.866
18	31802954	C	T	18	34222990	y	n	exonic	NOL4	synonymous SNV	NOL4:NM_003787:exon1:c.G264A:p.T88T;NOL4:NM_001198548:exon1:c.G264A:p.T88T;NOL4:NM_001198546:exon1:c.G264A:p.T88T;	exonic	ENSG00000101746	synonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.G216A:p.T72T;ENSG00000101746:ENST00000589544:exon1:c.G264A:p.T88T;ENSG00000101746:ENST00000261592:exon1:c.G264A:p.T88T;	0.999738190100503	0.96
18	31802955	G	A	18	34222991	y	n	exonic	NOL4	nonsynonymous SNV	NOL4:NM_003787:exon1:c.C263T:p.T88M;NOL4:NM_001198548:exon1:c.C263T:p.T88M;NOL4:NM_001198546:exon1:c.C263T:p.T88M;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.C215T:p.T72M;ENSG00000101746:ENST00000589544:exon1:c.C263T:p.T88M;ENSG00000101746:ENST00000261592:exon1:c.C263T:p.T88M;	0.99376343179608	0.822
18	31802955	G	C	18	34222991	y	n	exonic	NOL4	nonsynonymous SNV	NOL4:NM_003787:exon1:c.C263G:p.T88R;NOL4:NM_001198548:exon1:c.C263G:p.T88R;NOL4:NM_001198546:exon1:c.C263G:p.T88R;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.C215G:p.T72R;ENSG00000101746:ENST00000589544:exon1:c.C263G:p.T88R;ENSG00000101746:ENST00000261592:exon1:c.C263G:p.T88R;	0.98905737814172	0.772
18	31802955	G	T	18	34222991	y	n	exonic	NOL4	nonsynonymous SNV	NOL4:NM_003787:exon1:c.C263A:p.T88K;NOL4:NM_001198548:exon1:c.C263A:p.T88K;NOL4:NM_001198546:exon1:c.C263A:p.T88K;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.C215A:p.T72K;ENSG00000101746:ENST00000589544:exon1:c.C263A:p.T88K;ENSG00000101746:ENST00000261592:exon1:c.C263A:p.T88K;	0.964386820155837	0.732
18	31802956	T	A	18	34222992	y	n	exonic	NOL4	nonsynonymous SNV	NOL4:NM_003787:exon1:c.A262T:p.T88S;NOL4:NM_001198548:exon1:c.A262T:p.T88S;NOL4:NM_001198546:exon1:c.A262T:p.T88S;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.A214T:p.T72S;ENSG00000101746:ENST00000589544:exon1:c.A262T:p.T88S;ENSG00000101746:ENST00000261592:exon1:c.A262T:p.T88S;	0.0479961398149086	0.164
18	31802956	T	C	18	34222992	y	n	exonic	NOL4	nonsynonymous SNV	NOL4:NM_003787:exon1:c.A262G:p.T88A;NOL4:NM_001198548:exon1:c.A262G:p.T88A;NOL4:NM_001198546:exon1:c.A262G:p.T88A;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.A214G:p.T72A;ENSG00000101746:ENST00000589544:exon1:c.A262G:p.T88A;ENSG00000101746:ENST00000261592:exon1:c.A262G:p.T88A;	0.00121740731748723	0.084
18	31802956	T	G	18	34222992	y	n	exonic	NOL4	nonsynonymous SNV	NOL4:NM_003787:exon1:c.A262C:p.T88P;NOL4:NM_001198548:exon1:c.A262C:p.T88P;NOL4:NM_001198546:exon1:c.A262C:p.T88P;	exonic	ENSG00000101746	nonsynonymous SNV	ENSG00000101746:ENST00000590712:exon1:c.A214C:p.T72P;ENSG00000101746:ENST00000589544:exon1:c.A262C:p.T88P;ENSG00000101746:ENST00000261592:exon1:c.A262C:p.T88P;	0.561349523396363	0.404
18	32073476	A	C	18	34493512	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00974218638135133	0.162
18	32073476	A	G	18	34493512	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00974218638135133	0.152
18	32073476	A	T	18	34493512	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0262583842809432	0.41
18	32073477	A	C	18	34493513	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0104376638717155	0.188
18	32073477	A	G	18	34493513	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00974218638135133	0.18
18	32073477	A	T	18	34493513	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0262583842809432	0.376
18	32073478	G	A	18	34493514	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0364867877201535	0.156
18	32073478	G	C	18	34493514	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0305625055538626	0.05
18	32073478	G	T	18	34493514	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0305625055538626	0.094
18	32073479	G	A	18	34493515	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.923591012305772	0.776
18	32073479	G	C	18	34493515	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.887228860583156	0.792
18	32073479	G	T	18	34493515	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.864413240826572	0.776
18	32073480	T	A	18	34493516	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	3.89444294408541E-4	0.016
18	32073480	T	C	18	34493516	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	1.98681597815499E-4	0.0
18	32073480	T	G	18	34493516	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	1.98681597815499E-4	0.0
18	32073481	G	A	18	34493517	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00116065968722173	0.0
18	32073481	G	C	18	34493517	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00127923335830091	0.004
18	32073481	G	T	18	34493517	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00116065968722173	0.0
18	32073482	T	A	18	34493518	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.13260440238076E-4	0.024
18	32073482	T	C	18	34493518	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.77946598378408E-4	0.02
18	32073482	T	G	18	34493518	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.77946598378408E-4	0.02
18	32073483	G	A	18	34493519	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0226325096846809	0.03
18	32073483	G	C	18	34493519	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0147069526456636	0.028
18	32073483	G	T	18	34493519	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0147069526456636	0.026
18	32073484	T	A	18	34493520	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.45161108543588E-4	0.046
18	32073484	T	C	18	34493520	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.6591932203085E-4	0.046
18	32073484	T	G	18	34493520	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.6591932203085E-4	0.046
18	32073485	G	A	18	34493521	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00128267119030382	0.02
18	32073485	G	C	18	34493521	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00128267119030382	0.02
18	32073485	G	T	18	34493521	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00128267119030382	0.02
18	32073486	C	A	18	34493522	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.09828708177445E-5	0.0
18	32073486	C	G	18	34493522	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.79815302939872E-5	0.0
18	32073486	C	T	18	34493522	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.09828708177445E-5	0.0
18	32073983	C	A	18	34494019	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.21591503916934E-4	0.016
18	32073983	C	G	18	34494019	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.21591503916934E-4	0.016
18	32073983	C	T	18	34494019	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	6.05838053855041E-4	0.016
18	32073984	A	C	18	34494020	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.04832257751064E-5	0.0
18	32073984	A	G	18	34494020	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.04832257751064E-5	0.0
18	32073984	A	T	18	34494020	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	6.32164606488802E-5	0.0
18	32073985	G	A	18	34494021	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.21591503916934E-4	0.016
18	32073985	G	C	18	34494021	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.21591503916934E-4	0.016
18	32073985	G	T	18	34494021	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.21591503916934E-4	0.016
18	32073986	G	A	18	34494022	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.21591503916934E-4	0.016
18	32073986	G	C	18	34494022	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.21591503916934E-4	0.016
18	32073986	G	T	18	34494022	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.21591503916934E-4	0.016
18	32073987	T	A	18	34494023	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.02060739327312E-4	0.004
18	32073987	T	C	18	34494023	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.82017530859512E-4	0.004
18	32073987	T	G	18	34494023	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.82017530859512E-4	0.004
18	32073988	A	C	18	34494024	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.50742543612717E-5	0.0
18	32073988	A	G	18	34494024	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.50742543612717E-5	0.0
18	32073988	A	T	18	34494024	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.0301255924523E-5	0.0
18	32073989	A	C	18	34494025	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.20191449513257E-4	0.0
18	32073989	A	G	18	34494025	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.20191449513257E-4	0.0
18	32073989	A	T	18	34494025	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.00446929808203E-4	0.0
18	32073990	A	C	18	34494026	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.36920112969798E-5	0.018
18	32073990	A	G	18	34494026	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.36920112969798E-5	0.018
18	32073990	A	T	18	34494026	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.16136758576112E-4	0.026
18	32073991	T	A	18	34494027	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.56127364315565E-4	0.052
18	32073991	T	C	18	34494027	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.90952363780321E-4	0.0
18	32073991	T	G	18	34494027	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.02578530760903E-4	0.0
18	32073992	C	A	18	34494028	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.95279944443104E-5	0.006
18	32073992	C	G	18	34494028	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.95279944443104E-5	0.006
18	32073992	C	T	18	34494028	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.30199407269916E-4	0.006
18	32073993	T	A	18	34494029	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.98850905135249E-4	0.036
18	32073993	T	C	18	34494029	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.73830529789642E-4	0.0
18	32073993	T	G	18	34494029	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.73830529789642E-4	0.0
18	32138097	C	A	18	34558133	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138097	C	G	18	34558133	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138097	C	T	18	34558133	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138098	A	C	18	34558134	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138098	A	G	18	34558134	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138098	A	T	18	34558134	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138099	G	A	18	34558135	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138099	G	C	18	34558135	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138099	G	T	18	34558135	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138100	G	A	18	34558136	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138100	G	C	18	34558136	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138100	G	T	18	34558136	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138101	T	A	18	34558137	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138101	T	C	18	34558137	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138101	T	G	18	34558137	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138102	G	A	18	34558138	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138102	G	C	18	34558138	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138102	G	T	18	34558138	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138103	A	C	18	34558139	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138103	A	G	18	34558139	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138103	A	T	18	34558139	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138104	G	A	18	34558140	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138104	G	C	18	34558140	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138104	G	T	18	34558140	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138105	T	A	18	34558141	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138105	T	C	18	34558141	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138105	T	G	18	34558141	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138106	C	A	18	34558142	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138106	C	G	18	34558142	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138106	C	T	18	34558142	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.18551054981151E-5	0.0
18	32138107	T	A	18	34558143	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138107	T	C	18	34558143	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32138107	T	G	18	34558143	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.37582853480714E-5	0.0
18	32173500	A	C	18	34593536	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.32865970446788E-5	0.0
18	32173500	A	G	18	34593536	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.32865970446788E-5	0.0
18	32173500	A	T	18	34593536	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.58662744131228E-5	0.0
18	32173501	G	A	18	34593537	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00211814652521417	0.032
18	32173501	G	C	18	34593537	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00150263893839781	0.012
18	32173501	G	T	18	34593537	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00211814652521417	0.028
18	32173502	G	A	18	34593538	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0420627857621314	0.128
18	32173502	G	C	18	34593538	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0312450068205507	0.074
18	32173502	G	T	18	34593538	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0420627857621314	0.09
18	32173503	G	A	18	34593539	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.985952990863178	0.848
18	32173503	G	C	18	34593539	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.970725516157012	0.838
18	32173503	G	T	18	34593539	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.984343014727787	0.836
18	32173504	T	A	18	34593540	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.803605016897643	0.766
18	32173504	T	C	18	34593540	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.803605016897643	0.752
18	32173504	T	G	18	34593540	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.803605016897643	0.754
18	32173505	A	C	18	34593541	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0980333975144165	0.276
18	32173505	A	G	18	34593541	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0980333975144165	0.274
18	32173505	A	T	18	34593541	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0980333975144165	0.398
18	32173506	A	C	18	34593542	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0980333975144165	0.416
18	32173506	A	G	18	34593542	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0980333975144165	0.416
18	32173506	A	T	18	34593542	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.167031886271497	0.53
18	32173507	G	A	18	34593543	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.594810479771519	0.38
18	32173507	G	C	18	34593543	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.041571057170385	0.192
18	32173507	G	T	18	34593543	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0750138418289286	0.232
18	32173508	T	A	18	34593544	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.255374117213338	0.476
18	32173508	T	C	18	34593544	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0980333975144165	0.408
18	32173508	T	G	18	34593544	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0980333975144165	0.412
18	32173509	G	A	18	34593545	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.7057495309074E-4	0.002
18	32173509	G	C	18	34593545	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00112105296231836	0.01
18	32173509	G	T	18	34593545	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00112105296231836	0.006
18	32173510	A	C	18	34593546	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.16080636402324E-4	0.0
18	32173510	A	G	18	34593546	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.16080636402324E-4	0.0
18	32173510	A	T	18	34593546	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.05309614883202E-4	0.0
18	32242806	C	A	18	34662842	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.63360899965148E-5	0.008
18	32242806	C	G	18	34662842	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.52173701430229E-5	0.008
18	32242806	C	T	18	34662842	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.63360899965148E-5	0.0
18	32242807	C	A	18	34662843	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.13847195961614E-5	0.002
18	32242807	C	G	18	34662843	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.13847195961614E-5	0.002
18	32242807	C	T	18	34662843	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.33930376896499E-5	0.002
18	32242808	T	A	18	34662844	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.4076558401562E-4	0.01
18	32242808	T	C	18	34662844	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.4076558401562E-4	0.01
18	32242808	T	G	18	34662844	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.4076558401562E-4	0.01
18	32242809	T	A	18	34662845	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.4076558401562E-4	0.01
18	32242809	T	C	18	34662845	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.4076558401562E-4	0.01
18	32242809	T	G	18	34662845	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.4076558401562E-4	0.01
18	32242810	C	A	18	34662846	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.32880881212684E-4	0.022
18	32242810	C	G	18	34662846	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.32880881212684E-4	0.024
18	32242810	C	T	18	34662846	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.32880881212684E-4	0.022
18	32242811	C	A	18	34662847	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.54291542054858E-4	0.004
18	32242811	C	G	18	34662847	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.54291542054858E-4	0.006
18	32242811	C	T	18	34662847	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.54291542054858E-4	0.004
18	32242812	T	A	18	34662848	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.45170072801036E-5	0.02
18	32242812	T	C	18	34662848	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.3994564522384E-5	0.02
18	32242812	T	G	18	34662848	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.3994564522384E-5	0.02
18	32242813	T	A	18	34662849	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.5529151830241E-5	0.0
18	32242813	T	C	18	34662849	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.42544334184685E-5	0.022
18	32242813	T	G	18	34662849	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.5529151830241E-5	0.01
18	32242814	T	A	18	34662850	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.15941453541388E-5	0.002
18	32242814	T	C	18	34662850	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.89925739660516E-5	0.006
18	32242814	T	G	18	34662850	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.89925739660516E-5	0.006
18	32242815	T	A	18	34662851	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.24824353344448E-5	0.002
18	32242815	T	C	18	34662851	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.24824353344448E-5	0.0
18	32242815	T	G	18	34662851	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.24824353344448E-5	0.0
18	32242816	A	C	18	34662852	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.8042999492716E-5	0.0
18	32242816	A	G	18	34662852	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.8042999492716E-5	0.0
18	32242816	A	T	18	34662852	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	8.73196147837547E-5	0.0
18	32242817	G	A	18	34662853	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.78716126261033E-5	0.0
18	32242817	G	C	18	34662853	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.78716126261033E-5	0.0
18	32242817	G	T	18	34662853	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.78716126261033E-5	0.0
18	32242818	G	A	18	34662854	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.41069364790736E-5	0.008
18	32242818	G	C	18	34662854	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.41069364790736E-5	0.006
18	32242818	G	T	18	34662854	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.41069364790736E-5	0.006
18	32242819	A	C	18	34662855	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.08802802279601E-5	0.0
18	32242819	A	G	18	34662855	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.08802802279601E-5	0.0
18	32242819	A	T	18	34662855	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	8.49702646665041E-5	0.004
18	32242942	A	C	18	34662978	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.8042999492716E-5	0.004
18	32242942	A	G	18	34662978	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.8042999492716E-5	0.004
18	32242942	A	T	18	34662978	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	8.73196147837547E-5	0.004
18	32242943	T	A	18	34662979	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	5.15941453541388E-5	0.002
18	32242943	T	C	18	34662979	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	5.15941453541388E-5	0.004
18	32242943	T	G	18	34662979	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	5.15941453541388E-5	0.004
18	32242944	G	A	18	34662980	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.78205327723092E-5	0.006
18	32242944	G	C	18	34662980	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.78205327723092E-5	0.004
18	32242944	G	T	18	34662980	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.78205327723092E-5	0.004
18	32242945	G	A	18	34662981	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.1738525533333E-5	0.002
18	32242945	G	C	18	34662981	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.08788427788342E-5	0.0
18	32242945	G	T	18	34662981	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.1738525533333E-5	0.0
18	32242946	T	A	18	34662982	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.8042999492716E-5	0.0
18	32242946	T	C	18	34662982	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.8042999492716E-5	0.0
18	32242946	T	G	18	34662982	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.8042999492716E-5	0.0
18	32242947	A	C	18	34662983	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.05567792764038E-5	0.002
18	32242947	A	G	18	34662983	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.05567792764038E-5	0.002
18	32242947	A	T	18	34662983	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.05567792764038E-5	0.002
18	32242948	A	C	18	34662984	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.14505838604605E-5	0.006
18	32242948	A	G	18	34662984	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.14505838604605E-5	0.006
18	32242948	A	T	18	34662984	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.14505838604605E-5	0.008
18	32242949	G	A	18	34662985	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.59660858139777E-5	0.0
18	32242949	G	C	18	34662985	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.59660858139777E-5	0.0
18	32242949	G	T	18	34662985	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.59660858139777E-5	0.0
18	32242950	T	A	18	34662986	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.76020749564062E-5	0.0
18	32242950	T	C	18	34662986	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.24824353344448E-5	0.0
18	32242950	T	G	18	34662986	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.24824353344448E-5	0.0
18	32242951	A	C	18	34662987	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.42544334184685E-5	0.01
18	32242951	A	G	18	34662987	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.42544334184685E-5	0.01
18	32242951	A	T	18	34662987	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.5529151830241E-5	0.0
18	32242952	A	C	18	34662988	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00222044931597881	0.008
18	32242952	A	G	18	34662988	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00222044931597881	0.008
18	32242952	A	T	18	34662988	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00177780133235394	0.008
18	32259420	T	A	18	34679456	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0408845047853352	0.2
18	32259420	T	C	18	34679456	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0350208623408404	0.2
18	32259420	T	G	18	34679456	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0350208623408404	0.2
18	32259421	T	A	18	34679457	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.92961721136914	0.794
18	32259421	T	C	18	34679457	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.92961721136914	0.802
18	32259421	T	G	18	34679457	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.92961721136914	0.802
18	32259422	C	A	18	34679458	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.90554931797843E-4	0.068
18	32259422	C	G	18	34679458	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.90554931797843E-4	0.034
18	32259422	C	T	18	34679458	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.72053721565016E-5	0.032
18	32259423	T	A	18	34679459	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.4683308490371E-5	0.078
18	32259423	T	C	18	34679459	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.74722198376913E-5	0.034
18	32259423	T	G	18	34679459	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.74722198376913E-5	0.042
18	32259424	C	A	18	34679460	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.8551835119743E-4	0.016
18	32259424	C	G	18	34679460	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.8551835119743E-4	0.004
18	32259424	C	T	18	34679460	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.76314105744779E-4	0.002
18	32259425	G	A	18	34679461	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.29816625544176E-4	0.03
18	32259425	G	C	18	34679461	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.8981920609869E-4	0.04
18	32259425	G	T	18	34679461	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.29816625544176E-4	0.03
18	32259426	T	A	18	34679462	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0299920155689881	0.032
18	32259426	T	C	18	34679462	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0195407991256297	0.026
18	32259426	T	G	18	34679462	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0195407991256297	0.028
18	32259427	T	A	18	34679463	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0299920155689881	0.038
18	32259427	T	C	18	34679463	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0195407991256297	0.028
18	32259427	T	G	18	34679463	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0195407991256297	0.026
18	32259428	G	A	18	34679464	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.40189184171185E-5	0.0
18	32259428	G	C	18	34679464	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.13192503172253E-5	0.0
18	32259428	G	T	18	34679464	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.13192503172253E-5	0.0
18	32259429	C	A	18	34679465	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.22412960043836E-4	0.052
18	32259429	C	G	18	34679465	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.22412960043836E-4	0.05
18	32259429	C	T	18	34679465	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.14902849834174E-4	0.056
18	32259430	A	C	18	34679466	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.00137470024442694	0.068
18	32259430	A	G	18	34679466	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.00137470024442694	0.068
18	32259430	A	T	18	34679466	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.00137470024442694	0.074
18	32259431	G	A	18	34679467	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.99322353305357	0.858
18	32259431	G	C	18	34679467	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.993733916693694	0.858
18	32259431	G	T	18	34679467	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.99322353305357	0.856
18	32259432	A	C	18	34679468	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	5.4518697930878E-5	0.002
18	32259432	A	G	18	34679468	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	5.4518697930878E-5	0.016
18	32259432	A	T	18	34679468	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	5.4518697930878E-5	0.004
18	32259433	T	A	18	34679469	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00133414964176908	0.012
18	32259433	T	C	18	34679469	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00133414964176908	0.008
18	32259433	T	G	18	34679469	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00133414964176908	0.008
18	32259554	T	A	18	34679590	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.730490582542871	0.698
18	32259554	T	C	18	34679590	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.479127747079051	0.592
18	32259554	T	G	18	34679590	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.479127747079051	0.592
18	32259555	A	C	18	34679591	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.479127747079051	0.592
18	32259555	A	G	18	34679591	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.479127747079051	0.592
18	32259555	A	T	18	34679591	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.730490582542871	0.714
18	32259556	G	A	18	34679592	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.17477320534835	0.304
18	32259556	G	C	18	34679592	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0861748975146968	0.176
18	32259556	G	T	18	34679592	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.101747750884609	0.24
18	32259557	G	A	18	34679593	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.994463269283841	0.932
18	32259557	G	C	18	34679593	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.995030058536757	0.912
18	32259557	G	T	18	34679593	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.994463269283841	0.928
18	32259558	T	A	18	34679594	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.943420802424773	0.832
18	32259558	T	C	18	34679594	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.952641827265979	0.812
18	32259558	T	G	18	34679594	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.952641827265979	0.814
18	32259559	G	A	18	34679595	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00112105296231836	0.0
18	32259559	G	C	18	34679595	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00123558539255655	0.004
18	32259559	G	T	18	34679595	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00112105296231836	0.004
18	32259560	A	C	18	34679596	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0481294990811233	0.156
18	32259560	A	G	18	34679596	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0481294990811233	0.158
18	32259560	A	T	18	34679596	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.225717161231706	0.284
18	32259561	G	A	18	34679597	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0203663321563806	0.064
18	32259561	G	C	18	34679597	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.019557205456413	0.06
18	32259561	G	T	18	34679597	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0169741104462476	0.058
18	32259562	T	A	18	34679598	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0225415829961547	0.036
18	32259562	T	C	18	34679598	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.010800851317721	0.024
18	32259562	T	G	18	34679598	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.010800851317721	0.026
18	32259563	G	A	18	34679599	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.46413180592529E-4	0.006
18	32259563	G	C	18	34679599	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.47645184142865E-5	0.01
18	32259563	G	T	18	34679599	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.75123824698313E-5	0.006
18	32259564	T	A	18	34679600	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.24091207594648E-4	0.0
18	32259564	T	C	18	34679600	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.76074896990115E-5	0.0
18	32259564	T	G	18	34679600	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.76074896990115E-5	0.0
18	32263434	A	C	18	34683470	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.12138813625283E-5	0.036
18	32263434	A	G	18	34683470	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.12138813625283E-5	0.036
18	32263434	A	T	18	34683470	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.12138813625283E-5	0.006
18	32263435	T	A	18	34683471	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.59797615271383E-5	0.0
18	32263435	T	C	18	34683471	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.59797615271383E-5	0.0
18	32263435	T	G	18	34683471	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.59797615271383E-5	0.0
18	32263436	C	A	18	34683472	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.27456659313109E-5	0.006
18	32263436	C	G	18	34683472	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.72760553213487E-5	0.004
18	32263436	C	T	18	34683472	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.27456659313109E-5	0.0
18	32263437	T	A	18	34683473	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.455930068921E-5	0.002
18	32263437	T	C	18	34683473	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.38731564659595E-5	0.002
18	32263437	T	G	18	34683473	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.38731564659595E-5	0.002
18	32263438	T	A	18	34683474	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.77978745885032E-4	0.002
18	32263438	T	C	18	34683474	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.77978745885032E-4	0.002
18	32263438	T	G	18	34683474	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.77978745885032E-4	0.002
18	32263439	T	A	18	34683475	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.13921893900412E-5	0.01
18	32263439	T	C	18	34683475	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.92787671307724E-5	0.008
18	32263439	T	G	18	34683475	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.92787671307724E-5	0.008
18	32263440	T	A	18	34683476	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.36195737818257E-5	0.0
18	32263440	T	C	18	34683476	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.36195737818257E-5	0.0
18	32263440	T	G	18	34683476	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.36195737818257E-5	0.0
18	32263441	C	A	18	34683477	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.31929338280547E-5	0.0
18	32263441	C	G	18	34683477	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.07620641825897E-5	0.0
18	32263441	C	T	18	34683477	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.31929338280547E-5	0.004
18	32263442	T	A	18	34683478	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.77978745885032E-4	0.002
18	32263442	T	C	18	34683478	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.77978745885032E-4	0.002
18	32263442	T	G	18	34683478	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.77978745885032E-4	0.002
18	32263443	C	A	18	34683479	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.15042193520174E-5	0.006
18	32263443	C	G	18	34683479	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.15042193520174E-5	0.008
18	32263443	C	T	18	34683479	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.15042193520174E-5	0.008
18	32263444	A	C	18	34683480	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.03359245426808E-5	0.006
18	32263444	A	G	18	34683480	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.03359245426808E-5	0.006
18	32263444	A	T	18	34683480	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.03359245426808E-5	0.006
18	32263445	G	A	18	34683481	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	0.00118586876786916	0.028
18	32263445	G	C	18	34683481	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	0.0016918016095182	0.028
18	32263445	G	T	18	34683481	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	0.0016918016095182	0.034
18	32263446	A	C	18	34683482	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	8.89371736124219E-4	0.0
18	32263446	A	G	18	34683482	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	8.89371736124219E-4	0.0
18	32263446	A	T	18	34683482	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	7.91335385279169E-4	0.0
18	32263447	G	A	18	34683483	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0346199706893892	0.066
18	32263447	G	C	18	34683483	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0289237543202181	0.062
18	32263447	G	T	18	34683483	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0346199706893892	0.068
18	32263656	C	A	18	34683692	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.63102530313989E-5	0.0
18	32263656	C	G	18	34683692	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.470116607971E-5	0.0
18	32263656	C	T	18	34683692	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.63102530313989E-5	0.0
18	32263657	A	C	18	34683693	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.37565206783177E-5	0.01
18	32263657	A	G	18	34683693	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.37565206783177E-5	0.01
18	32263657	A	T	18	34683693	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.37565206783177E-5	0.01
18	32263658	G	A	18	34683694	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	7.52881759733747E-5	0.0
18	32263658	G	C	18	34683694	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.00675832680685E-4	0.002
18	32263658	G	T	18	34683694	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	7.52881759733747E-5	0.0
18	32263659	G	A	18	34683695	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	8.62415088955731E-5	0.016
18	32263659	G	C	18	34683695	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	6.00043844550976E-5	0.016
18	32263659	G	T	18	34683695	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	6.00043844550976E-5	0.016
18	32263660	T	A	18	34683696	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.70680711085847E-5	0.0
18	32263660	T	C	18	34683696	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.35855287285003E-5	0.0
18	32263660	T	G	18	34683696	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.35855287285003E-5	0.0
18	32263661	A	C	18	34683697	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.80994074047231E-5	0.0
18	32263661	A	G	18	34683697	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.80994074047231E-5	0.0
18	32263661	A	T	18	34683697	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.83708300348738E-5	0.0
18	32263662	T	A	18	34683698	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.44101454748109E-4	0.004
18	32263662	T	C	18	34683698	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.07902708129146E-4	0.002
18	32263662	T	G	18	34683698	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.07902708129146E-4	0.002
18	32263663	G	A	18	34683699	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.45170072801036E-5	0.008
18	32263663	G	C	18	34683699	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.45170072801036E-5	0.008
18	32263663	G	T	18	34683699	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.45170072801036E-5	0.008
18	32263664	A	C	18	34683700	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.33815804894828E-5	0.0
18	32263664	A	G	18	34683700	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.33815804894828E-5	0.0
18	32263664	A	T	18	34683700	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.36057955275112E-5	0.0
18	32263665	G	A	18	34683701	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.15380256934019E-5	0.0
18	32263665	G	C	18	34683701	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.03640525457558E-5	0.0
18	32263665	G	T	18	34683701	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.03640525457558E-5	0.0
18	32263666	G	A	18	34683702	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.69831625241199E-5	0.0
18	32263666	G	C	18	34683702	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.69831625241199E-5	0.004
18	32263666	G	T	18	34683702	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.69831625241199E-5	0.0
18	32288126	C	A	18	34708162	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.15849948155271E-5	0.0
18	32288126	C	G	18	34708162	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.15849948155271E-5	0.0
18	32288126	C	T	18	34708162	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.15849948155271E-5	0.0
18	32288127	T	A	18	34708163	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.65361214020652E-5	0.086
18	32288127	T	C	18	34708163	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.65361214020652E-5	0.006
18	32288127	T	G	18	34708163	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.65361214020652E-5	0.006
18	32288128	T	A	18	34708164	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.40148198700121E-5	0.008
18	32288128	T	C	18	34708164	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.69692329001126E-5	0.0
18	32288128	T	G	18	34708164	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.69692329001126E-5	0.0
18	32288129	T	A	18	34708165	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.89925739660516E-5	0.004
18	32288129	T	C	18	34708165	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.31929338280547E-5	0.002
18	32288129	T	G	18	34708165	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.31929338280547E-5	0.002
18	32288130	G	A	18	34708166	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.68952365742707E-5	0.002
18	32288130	G	C	18	34708166	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.270921211638E-5	0.024
18	32288130	G	T	18	34708166	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.68952365742707E-5	0.008
18	32288131	G	A	18	34708167	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.3525528897954E-5	0.002
18	32288131	G	C	18	34708167	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.3525528897954E-5	0.008
18	32288131	G	T	18	34708167	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.3525528897954E-5	0.002
18	32288132	T	A	18	34708168	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.6128894829304E-5	0.002
18	32288132	T	C	18	34708168	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.6128894829304E-5	0.004
18	32288132	T	G	18	34708168	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.6128894829304E-5	0.004
18	32288133	G	A	18	34708169	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.35115461238441E-4	0.0
18	32288133	G	C	18	34708169	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.35115461238441E-4	0.0
18	32288133	G	T	18	34708169	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.35115461238441E-4	0.0
18	32288134	T	A	18	34708170	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.09672030971394E-5	0.002
18	32288134	T	C	18	34708170	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.25395666728411E-5	0.002
18	32288134	T	G	18	34708170	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.25395666728411E-5	0.004
18	32288135	C	A	18	34708171	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.68952365742707E-5	0.006
18	32288135	C	G	18	34708171	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.68952365742707E-5	0.002
18	32288135	C	T	18	34708171	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.68952365742707E-5	0.002
18	32288136	A	C	18	34708172	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.27663100932972E-5	0.0
18	32288136	A	G	18	34708172	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.27663100932972E-5	0.0
18	32288136	A	T	18	34708172	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	3.39457982047225E-5	0.0
18	32288137	G	A	18	34708173	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.68952365742707E-5	0.002
18	32288137	G	C	18	34708173	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.68952365742707E-5	0.006
18	32288137	G	T	18	34708173	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.68952365742707E-5	0.004
18	32288138	G	A	18	34708174	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.32510510707312E-5	0.0
18	32288138	G	C	18	34708174	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.1548255067557E-5	0.0
18	32288138	G	T	18	34708174	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.1548255067557E-5	0.0
18	32288139	T	A	18	34708175	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00324533433619169	0.036
18	32288139	T	C	18	34708175	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00318320130771389	0.024
18	32288139	T	G	18	34708175	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00318320130771389	0.024
18	32288188	C	A	18	34708224	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.45277156108894E-5	0.002
18	32288188	C	G	18	34708224	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.45277156108894E-5	0.002
18	32288188	C	T	18	34708224	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.45277156108894E-5	0.002
18	32288189	T	A	18	34708225	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.12689098276539E-4	0.028
18	32288189	T	C	18	34708225	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.28931909661929E-4	0.028
18	32288189	T	G	18	34708225	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.28931909661929E-4	0.028
18	32288190	G	A	18	34708226	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.58662744131228E-5	0.0
18	32288190	G	C	18	34708226	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.58662744131228E-5	0.0
18	32288190	G	T	18	34708226	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.58662744131228E-5	0.0
18	32288191	G	A	18	34708227	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.51591174045998E-4	0.006
18	32288191	G	C	18	34708227	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.00961143325455E-4	0.006
18	32288191	G	T	18	34708227	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.51591174045998E-4	0.008
18	32288192	T	A	18	34708228	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	0.0057617472040776	0.054
18	32288192	T	C	18	34708228	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	0.0057617472040776	0.054
18	32288192	T	G	18	34708228	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	0.0057617472040776	0.054
18	32288193	G	A	18	34708229	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.34241895422928E-4	0.0
18	32288193	G	C	18	34708229	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0010327499008663	0.0
18	32288193	G	T	18	34708229	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.34241895422928E-4	0.0
18	32288194	A	C	18	34708230	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.24936584612823E-4	0.03
18	32288194	A	G	18	34708230	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.24936584612823E-4	0.028
18	32288194	A	T	18	34708230	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.65315153378838E-4	0.094
18	32288195	G	A	18	34708231	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00174534639763159	0.002
18	32288195	G	C	18	34708231	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.34241895422928E-4	0.0
18	32288195	G	T	18	34708231	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.34241895422928E-4	0.0
18	32288196	C	A	18	34708232	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.55453923326756E-5	0.0
18	32288196	C	G	18	34708232	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.45495379120052E-4	0.0
18	32288196	C	T	18	34708232	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.55453923326756E-5	0.002
18	32288197	A	C	18	34708233	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.71406022660188E-5	0.002
18	32288197	A	G	18	34708233	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.71406022660188E-5	0.002
18	32288197	A	T	18	34708233	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.71406022660188E-5	0.0
18	32288198	G	A	18	34708234	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.64454637883965E-5	0.006
18	32288198	G	C	18	34708234	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.06624260319159E-4	0.0
18	32288198	G	T	18	34708234	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.06624260319159E-4	0.0
18	32290407	C	A	18	34710443	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.923645538223766	0.7
18	32290407	C	G	18	34710443	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.923645538223766	0.668
18	32290407	C	T	18	34710443	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.965239447252702	0.78
18	32290408	A	C	18	34710444	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.649056138717094	0.696
18	32290408	A	G	18	34710444	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.649056138717094	0.694
18	32290408	A	T	18	34710444	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.787008450380762	0.742
18	32290409	G	A	18	34710445	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.965239447252702	0.784
18	32290409	G	C	18	34710445	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.923645538223766	0.68
18	32290409	G	T	18	34710445	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.923645538223766	0.7
18	32290410	G	A	18	34710446	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.99322353305357	0.852
18	32290410	G	C	18	34710446	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.993733916693694	0.852
18	32290410	G	T	18	34710446	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.99322353305357	0.85
18	32290411	T	A	18	34710447	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.894630942212885	0.752
18	32290411	T	C	18	34710447	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.901833099062358	0.754
18	32290411	T	G	18	34710447	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.901833099062358	0.756
18	32290412	A	C	18	34710448	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.385620847847778	0.51
18	32290412	A	G	18	34710448	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.385620847847778	0.51
18	32290412	A	T	18	34710448	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.558953769800887	0.566
18	32290413	A	C	18	34710449	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.385620847847778	0.51
18	32290413	A	G	18	34710449	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.385620847847778	0.51
18	32290413	A	T	18	34710449	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.558953769800887	0.568
18	32290414	G	A	18	34710450	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.876130190174501	0.702
18	32290414	G	C	18	34710450	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.793118250434253	0.556
18	32290414	G	T	18	34710450	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.793118250434253	0.564
18	32290415	G	A	18	34710451	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00445273769687348	0.058
18	32290415	G	C	18	34710451	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00327451117831367	0.038
18	32290415	G	T	18	34710451	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00327451117831367	0.038
18	32290416	T	A	18	34710452	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.65938700604379E-4	0.014
18	32290416	T	C	18	34710452	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.38729817861612E-4	0.014
18	32290416	T	G	18	34710452	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.65938700604379E-4	0.014
18	32290417	A	C	18	34710453	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.46814773625705E-5	0.036
18	32290417	A	G	18	34710453	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.46814773625705E-5	0.03
18	32290417	A	T	18	34710453	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.80594669444072E-5	0.052
18	32335928	T	A	18	34755964	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.892
18	32335928	T	C	18	34755964	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.892
18	32335928	T	G	18	34755964	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.892
18	32335929	T	A	18	34755965	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.894
18	32335929	T	C	18	34755965	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.892
18	32335929	T	G	18	34755965	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.892
18	32335930	T	A	18	34755966	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.894
18	32335930	T	C	18	34755966	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.894
18	32335930	T	G	18	34755966	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.941543839093938	0.894
18	32335931	G	A	18	34755967	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.0215003001198689	0.268
18	32335931	G	C	18	34755967	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.0215003001198689	0.276
18	32335931	G	T	18	34755967	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.0215003001198689	0.27
18	32335932	T	A	18	34755968	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.0069180409540431	0.058
18	32335932	T	C	18	34755968	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00405662573513608	0.096
18	32335932	T	G	18	34755968	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00405662573513608	0.1
18	32335933	C	A	18	34755969	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	2.57146667379223E-4	0.028
18	32335933	C	G	18	34755969	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	2.57146667379223E-4	0.024
18	32335933	C	T	18	34755969	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	2.33289305230551E-4	0.018
18	32335934	T	A	18	34755970	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	7.15838005414123E-4	0.002
18	32335934	T	C	18	34755970	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	7.15838005414123E-4	0.002
18	32335934	T	G	18	34755970	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	7.15838005414123E-4	0.002
18	32335935	C	A	18	34755971	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00544207674210157	0.084
18	32335935	C	G	18	34755971	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00544207674210157	0.064
18	32335935	C	T	18	34755971	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.0101271909930978	0.086
18	32335936	A	C	18	34755972	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.40773367033308E-4	0.0
18	32335936	A	G	18	34755972	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.40773367033308E-4	0.0
18	32335936	A	T	18	34755972	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.44682472353823E-4	0.0
18	32335937	T	A	18	34755973	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.65914997139377E-4	0.0
18	32335937	T	C	18	34755973	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.65914997139377E-4	0.0
18	32335937	T	G	18	34755973	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.65914997139377E-4	0.0
18	32335938	A	C	18	34755974	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.904509686249572	0.746
18	32335938	A	G	18	34755974	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.904509686249572	0.746
18	32335938	A	T	18	34755974	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.904509686249572	0.748
18	32335939	G	A	18	34755975	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.995030058536757	0.886
18	32335939	G	C	18	34755975	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.99322353305357	0.854
18	32335939	G	T	18	34755975	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.995876797705294	0.878
18	32335940	A	C	18	34755976	y	y	UTR5	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	0.911103709025019	0.772
18	32335940	A	G	18	34755976	y	y	UTR5	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	0.911103709025019	0.772
18	32335940	A	T	18	34755976	y	y	UTR5	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	0.911103709025019	0.764
18	32335941	A	C	18	34755977	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.A1C:p.M1L;DTNA:NM_001392:exon3:c.A1C:p.M1L;DTNA:NM_032978:exon2:c.A1C:p.M1L;DTNA:NM_001390:exon1:c.A1C:p.M1L;DTNA:NM_001198938:exon3:c.A1C:p.M1L;DTNA:NM_001198945:exon3:c.A1C:p.M1L;DTNA:NM_001391:exon1:c.A1C:p.M1L;DTNA:NM_001128175:exon3:c.A1C:p.M1L;DTNA:NM_001198940:exon3:c.A1C:p.M1L;DTNA:NM_001198939:exon3:c.A1C:p.M1L;DTNA:NM_001198941:exon2:c.A1C:p.M1L;DTNA:NM_032975:exon3:c.A1C:p.M1L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.A1C:p.M1L;ENSG00000134769:ENST00000598334:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000590412:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000595022:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000444659:exon1:c.A1C:p.M1L;ENSG00000134769:ENST00000269191:exon1:c.A1C:p.M1L;ENSG00000134769:ENST00000588125:exon4:c.A1C:p.M1L;ENSG00000134769:ENST00000283365:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000399113:exon1:c.A1C:p.M1L;ENSG00000134769:ENST00000269190:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000399121:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000590598:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000597599:exon2:c.A1C:p.M1L;ENSG00000134769:ENST00000554864:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000596745:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000588684:exon4:c.A1C:p.M1L;ENSG00000134769:ENST00000598774:exon2:c.A1C:p.M1L;ENSG00000134769:ENST00000315456:exon3:c.A1C:p.M1L;ENSG00000134769:ENST00000598142:exon2:c.A1C:p.M1L;	0.919391053439177	0.842
18	32335941	A	G	18	34755977	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.A1G:p.M1V;DTNA:NM_001392:exon3:c.A1G:p.M1V;DTNA:NM_032978:exon2:c.A1G:p.M1V;DTNA:NM_001390:exon1:c.A1G:p.M1V;DTNA:NM_001198938:exon3:c.A1G:p.M1V;DTNA:NM_001198945:exon3:c.A1G:p.M1V;DTNA:NM_001391:exon1:c.A1G:p.M1V;DTNA:NM_001128175:exon3:c.A1G:p.M1V;DTNA:NM_001198940:exon3:c.A1G:p.M1V;DTNA:NM_001198939:exon3:c.A1G:p.M1V;DTNA:NM_001198941:exon2:c.A1G:p.M1V;DTNA:NM_032975:exon3:c.A1G:p.M1V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.A1G:p.M1V;ENSG00000134769:ENST00000598334:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000590412:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000595022:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000444659:exon1:c.A1G:p.M1V;ENSG00000134769:ENST00000269191:exon1:c.A1G:p.M1V;ENSG00000134769:ENST00000588125:exon4:c.A1G:p.M1V;ENSG00000134769:ENST00000283365:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000399113:exon1:c.A1G:p.M1V;ENSG00000134769:ENST00000269190:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000399121:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000590598:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000597599:exon2:c.A1G:p.M1V;ENSG00000134769:ENST00000554864:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000596745:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000588684:exon4:c.A1G:p.M1V;ENSG00000134769:ENST00000598774:exon2:c.A1G:p.M1V;ENSG00000134769:ENST00000315456:exon3:c.A1G:p.M1V;ENSG00000134769:ENST00000598142:exon2:c.A1G:p.M1V;	0.927168985623823	0.838
18	32335941	A	T	18	34755977	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.A1T:p.M1L;DTNA:NM_001392:exon3:c.A1T:p.M1L;DTNA:NM_032978:exon2:c.A1T:p.M1L;DTNA:NM_001390:exon1:c.A1T:p.M1L;DTNA:NM_001198938:exon3:c.A1T:p.M1L;DTNA:NM_001198945:exon3:c.A1T:p.M1L;DTNA:NM_001391:exon1:c.A1T:p.M1L;DTNA:NM_001128175:exon3:c.A1T:p.M1L;DTNA:NM_001198940:exon3:c.A1T:p.M1L;DTNA:NM_001198939:exon3:c.A1T:p.M1L;DTNA:NM_001198941:exon2:c.A1T:p.M1L;DTNA:NM_032975:exon3:c.A1T:p.M1L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.A1T:p.M1L;ENSG00000134769:ENST00000598334:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000590412:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000595022:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000444659:exon1:c.A1T:p.M1L;ENSG00000134769:ENST00000269191:exon1:c.A1T:p.M1L;ENSG00000134769:ENST00000588125:exon4:c.A1T:p.M1L;ENSG00000134769:ENST00000283365:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000399113:exon1:c.A1T:p.M1L;ENSG00000134769:ENST00000269190:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000399121:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000590598:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000597599:exon2:c.A1T:p.M1L;ENSG00000134769:ENST00000554864:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000596745:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000588684:exon4:c.A1T:p.M1L;ENSG00000134769:ENST00000598774:exon2:c.A1T:p.M1L;ENSG00000134769:ENST00000315456:exon3:c.A1T:p.M1L;ENSG00000134769:ENST00000598142:exon2:c.A1T:p.M1L;	0.919391053439177	0.84
18	32336005	T	A	18	34756041	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.T65A:p.M22K;DTNA:NM_001392:exon3:c.T65A:p.M22K;DTNA:NM_032978:exon2:c.T65A:p.M22K;DTNA:NM_001390:exon1:c.T65A:p.M22K;DTNA:NM_001198938:exon3:c.T65A:p.M22K;DTNA:NM_001198945:exon3:c.T65A:p.M22K;DTNA:NM_001391:exon1:c.T65A:p.M22K;DTNA:NM_001128175:exon3:c.T65A:p.M22K;DTNA:NM_001198940:exon3:c.T65A:p.M22K;DTNA:NM_001198939:exon3:c.T65A:p.M22K;DTNA:NM_001198941:exon2:c.T65A:p.M22K;DTNA:NM_032975:exon3:c.T65A:p.M22K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.T65A:p.M22K;ENSG00000134769:ENST00000591816:exon4:c.T32A:p.M11K;ENSG00000134769:ENST00000598334:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000590412:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000595022:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000444659:exon1:c.T65A:p.M22K;ENSG00000134769:ENST00000269191:exon1:c.T65A:p.M22K;ENSG00000134769:ENST00000588125:exon4:c.T65A:p.M22K;ENSG00000134769:ENST00000283365:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000399113:exon1:c.T65A:p.M22K;ENSG00000134769:ENST00000269190:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000399121:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000590598:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000597599:exon2:c.T65A:p.M22K;ENSG00000134769:ENST00000554864:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000596745:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000598774:exon2:c.T65A:p.M22K;ENSG00000134769:ENST00000315456:exon3:c.T65A:p.M22K;ENSG00000134769:ENST00000598142:exon2:c.T65A:p.M22K;	0.755428657889518	0.696
18	32336005	T	C	18	34756041	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.T65C:p.M22T;DTNA:NM_001392:exon3:c.T65C:p.M22T;DTNA:NM_032978:exon2:c.T65C:p.M22T;DTNA:NM_001390:exon1:c.T65C:p.M22T;DTNA:NM_001198938:exon3:c.T65C:p.M22T;DTNA:NM_001198945:exon3:c.T65C:p.M22T;DTNA:NM_001391:exon1:c.T65C:p.M22T;DTNA:NM_001128175:exon3:c.T65C:p.M22T;DTNA:NM_001198940:exon3:c.T65C:p.M22T;DTNA:NM_001198939:exon3:c.T65C:p.M22T;DTNA:NM_001198941:exon2:c.T65C:p.M22T;DTNA:NM_032975:exon3:c.T65C:p.M22T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.T65C:p.M22T;ENSG00000134769:ENST00000591816:exon4:c.T32C:p.M11T;ENSG00000134769:ENST00000598334:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000590412:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000595022:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000444659:exon1:c.T65C:p.M22T;ENSG00000134769:ENST00000269191:exon1:c.T65C:p.M22T;ENSG00000134769:ENST00000588125:exon4:c.T65C:p.M22T;ENSG00000134769:ENST00000283365:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000399113:exon1:c.T65C:p.M22T;ENSG00000134769:ENST00000269190:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000399121:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000590598:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000597599:exon2:c.T65C:p.M22T;ENSG00000134769:ENST00000554864:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000596745:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000598774:exon2:c.T65C:p.M22T;ENSG00000134769:ENST00000315456:exon3:c.T65C:p.M22T;ENSG00000134769:ENST00000598142:exon2:c.T65C:p.M22T;	0.754271148223813	0.668
18	32336005	T	G	18	34756041	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.T65G:p.M22R;DTNA:NM_001392:exon3:c.T65G:p.M22R;DTNA:NM_032978:exon2:c.T65G:p.M22R;DTNA:NM_001390:exon1:c.T65G:p.M22R;DTNA:NM_001198938:exon3:c.T65G:p.M22R;DTNA:NM_001198945:exon3:c.T65G:p.M22R;DTNA:NM_001391:exon1:c.T65G:p.M22R;DTNA:NM_001128175:exon3:c.T65G:p.M22R;DTNA:NM_001198940:exon3:c.T65G:p.M22R;DTNA:NM_001198939:exon3:c.T65G:p.M22R;DTNA:NM_001198941:exon2:c.T65G:p.M22R;DTNA:NM_032975:exon3:c.T65G:p.M22R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.T65G:p.M22R;ENSG00000134769:ENST00000591816:exon4:c.T32G:p.M11R;ENSG00000134769:ENST00000598334:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000590412:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000595022:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000444659:exon1:c.T65G:p.M22R;ENSG00000134769:ENST00000269191:exon1:c.T65G:p.M22R;ENSG00000134769:ENST00000588125:exon4:c.T65G:p.M22R;ENSG00000134769:ENST00000283365:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000399113:exon1:c.T65G:p.M22R;ENSG00000134769:ENST00000269190:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000399121:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000590598:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000597599:exon2:c.T65G:p.M22R;ENSG00000134769:ENST00000554864:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000596745:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000598774:exon2:c.T65G:p.M22R;ENSG00000134769:ENST00000315456:exon3:c.T65G:p.M22R;ENSG00000134769:ENST00000598142:exon2:c.T65G:p.M22R;	0.761896590616169	0.764
18	32336006	G	A	18	34756042	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.G66A:p.M22I;DTNA:NM_001392:exon3:c.G66A:p.M22I;DTNA:NM_032978:exon2:c.G66A:p.M22I;DTNA:NM_001390:exon1:c.G66A:p.M22I;DTNA:NM_001198938:exon3:c.G66A:p.M22I;DTNA:NM_001198945:exon3:c.G66A:p.M22I;DTNA:NM_001391:exon1:c.G66A:p.M22I;DTNA:NM_001128175:exon3:c.G66A:p.M22I;DTNA:NM_001198940:exon3:c.G66A:p.M22I;DTNA:NM_001198939:exon3:c.G66A:p.M22I;DTNA:NM_001198941:exon2:c.G66A:p.M22I;DTNA:NM_032975:exon3:c.G66A:p.M22I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.G66A:p.M22I;ENSG00000134769:ENST00000591816:exon4:c.G33A:p.M11I;ENSG00000134769:ENST00000598334:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000590412:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000595022:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000444659:exon1:c.G66A:p.M22I;ENSG00000134769:ENST00000269191:exon1:c.G66A:p.M22I;ENSG00000134769:ENST00000588125:exon4:c.G66A:p.M22I;ENSG00000134769:ENST00000283365:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000399113:exon1:c.G66A:p.M22I;ENSG00000134769:ENST00000269190:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000399121:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000590598:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000597599:exon2:c.G66A:p.M22I;ENSG00000134769:ENST00000554864:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000596745:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000598774:exon2:c.G66A:p.M22I;ENSG00000134769:ENST00000315456:exon3:c.G66A:p.M22I;ENSG00000134769:ENST00000598142:exon2:c.G66A:p.M22I;	0.972789851651843	0.686
18	32336006	G	C	18	34756042	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.G66C:p.M22I;DTNA:NM_001392:exon3:c.G66C:p.M22I;DTNA:NM_032978:exon2:c.G66C:p.M22I;DTNA:NM_001390:exon1:c.G66C:p.M22I;DTNA:NM_001198938:exon3:c.G66C:p.M22I;DTNA:NM_001198945:exon3:c.G66C:p.M22I;DTNA:NM_001391:exon1:c.G66C:p.M22I;DTNA:NM_001128175:exon3:c.G66C:p.M22I;DTNA:NM_001198940:exon3:c.G66C:p.M22I;DTNA:NM_001198939:exon3:c.G66C:p.M22I;DTNA:NM_001198941:exon2:c.G66C:p.M22I;DTNA:NM_032975:exon3:c.G66C:p.M22I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.G66C:p.M22I;ENSG00000134769:ENST00000591816:exon4:c.G33C:p.M11I;ENSG00000134769:ENST00000598334:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000590412:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000595022:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000444659:exon1:c.G66C:p.M22I;ENSG00000134769:ENST00000269191:exon1:c.G66C:p.M22I;ENSG00000134769:ENST00000588125:exon4:c.G66C:p.M22I;ENSG00000134769:ENST00000283365:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000399113:exon1:c.G66C:p.M22I;ENSG00000134769:ENST00000269190:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000399121:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000590598:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000597599:exon2:c.G66C:p.M22I;ENSG00000134769:ENST00000554864:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000596745:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000598774:exon2:c.G66C:p.M22I;ENSG00000134769:ENST00000315456:exon3:c.G66C:p.M22I;ENSG00000134769:ENST00000598142:exon2:c.G66C:p.M22I;	0.992708558819609	0.87
18	32336006	G	T	18	34756042	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.G66T:p.M22I;DTNA:NM_001392:exon3:c.G66T:p.M22I;DTNA:NM_032978:exon2:c.G66T:p.M22I;DTNA:NM_001390:exon1:c.G66T:p.M22I;DTNA:NM_001198938:exon3:c.G66T:p.M22I;DTNA:NM_001198945:exon3:c.G66T:p.M22I;DTNA:NM_001391:exon1:c.G66T:p.M22I;DTNA:NM_001128175:exon3:c.G66T:p.M22I;DTNA:NM_001198940:exon3:c.G66T:p.M22I;DTNA:NM_001198939:exon3:c.G66T:p.M22I;DTNA:NM_001198941:exon2:c.G66T:p.M22I;DTNA:NM_032975:exon3:c.G66T:p.M22I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.G66T:p.M22I;ENSG00000134769:ENST00000591816:exon4:c.G33T:p.M11I;ENSG00000134769:ENST00000598334:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000590412:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000595022:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000444659:exon1:c.G66T:p.M22I;ENSG00000134769:ENST00000269191:exon1:c.G66T:p.M22I;ENSG00000134769:ENST00000588125:exon4:c.G66T:p.M22I;ENSG00000134769:ENST00000283365:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000399113:exon1:c.G66T:p.M22I;ENSG00000134769:ENST00000269190:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000399121:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000590598:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000597599:exon2:c.G66T:p.M22I;ENSG00000134769:ENST00000554864:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000596745:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000598774:exon2:c.G66T:p.M22I;ENSG00000134769:ENST00000315456:exon3:c.G66T:p.M22I;ENSG00000134769:ENST00000598142:exon2:c.G66T:p.M22I;	0.991027285774535	0.9
18	32336007	A	C	18	34756043	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon3:c.A67C:p.R23R;DTNA:NM_001392:exon3:c.A67C:p.R23R;DTNA:NM_032978:exon2:c.A67C:p.R23R;DTNA:NM_001390:exon1:c.A67C:p.R23R;DTNA:NM_001198938:exon3:c.A67C:p.R23R;DTNA:NM_001198945:exon3:c.A67C:p.R23R;DTNA:NM_001391:exon1:c.A67C:p.R23R;DTNA:NM_001128175:exon3:c.A67C:p.R23R;DTNA:NM_001198940:exon3:c.A67C:p.R23R;DTNA:NM_001198939:exon3:c.A67C:p.R23R;DTNA:NM_001198941:exon2:c.A67C:p.R23R;DTNA:NM_032975:exon3:c.A67C:p.R23R;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.A67C:p.R23R;ENSG00000134769:ENST00000591816:exon4:c.A34C:p.R12R;ENSG00000134769:ENST00000598334:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000590412:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000595022:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000444659:exon1:c.A67C:p.R23R;ENSG00000134769:ENST00000269191:exon1:c.A67C:p.R23R;ENSG00000134769:ENST00000588125:exon4:c.A67C:p.R23R;ENSG00000134769:ENST00000283365:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000399113:exon1:c.A67C:p.R23R;ENSG00000134769:ENST00000269190:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000399121:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000590598:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000597599:exon2:c.A67C:p.R23R;ENSG00000134769:ENST00000554864:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000596745:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000598774:exon2:c.A67C:p.R23R;ENSG00000134769:ENST00000315456:exon3:c.A67C:p.R23R;ENSG00000134769:ENST00000598142:exon2:c.A67C:p.R23R;	0.696722402591204	0.758
18	32336007	A	G	18	34756043	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.A67G:p.R23G;DTNA:NM_001392:exon3:c.A67G:p.R23G;DTNA:NM_032978:exon2:c.A67G:p.R23G;DTNA:NM_001390:exon1:c.A67G:p.R23G;DTNA:NM_001198938:exon3:c.A67G:p.R23G;DTNA:NM_001198945:exon3:c.A67G:p.R23G;DTNA:NM_001391:exon1:c.A67G:p.R23G;DTNA:NM_001128175:exon3:c.A67G:p.R23G;DTNA:NM_001198940:exon3:c.A67G:p.R23G;DTNA:NM_001198939:exon3:c.A67G:p.R23G;DTNA:NM_001198941:exon2:c.A67G:p.R23G;DTNA:NM_032975:exon3:c.A67G:p.R23G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.A67G:p.R23G;ENSG00000134769:ENST00000591816:exon4:c.A34G:p.R12G;ENSG00000134769:ENST00000598334:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000590412:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000595022:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000444659:exon1:c.A67G:p.R23G;ENSG00000134769:ENST00000269191:exon1:c.A67G:p.R23G;ENSG00000134769:ENST00000588125:exon4:c.A67G:p.R23G;ENSG00000134769:ENST00000283365:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000399113:exon1:c.A67G:p.R23G;ENSG00000134769:ENST00000269190:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000399121:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000590598:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000597599:exon2:c.A67G:p.R23G;ENSG00000134769:ENST00000554864:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000596745:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000598774:exon2:c.A67G:p.R23G;ENSG00000134769:ENST00000315456:exon3:c.A67G:p.R23G;ENSG00000134769:ENST00000598142:exon2:c.A67G:p.R23G;	0.37215783272418	0.314
18	32336007	A	T	18	34756043	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon3:c.A67T:p.R23W;DTNA:NM_001392:exon3:c.A67T:p.R23W;DTNA:NM_032978:exon2:c.A67T:p.R23W;DTNA:NM_001390:exon1:c.A67T:p.R23W;DTNA:NM_001198938:exon3:c.A67T:p.R23W;DTNA:NM_001198945:exon3:c.A67T:p.R23W;DTNA:NM_001391:exon1:c.A67T:p.R23W;DTNA:NM_001128175:exon3:c.A67T:p.R23W;DTNA:NM_001198940:exon3:c.A67T:p.R23W;DTNA:NM_001198939:exon3:c.A67T:p.R23W;DTNA:NM_001198941:exon2:c.A67T:p.R23W;DTNA:NM_032975:exon3:c.A67T:p.R23W;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon2:c.A67T:p.R23W;ENSG00000134769:ENST00000591816:exon4:c.A34T:p.R12W;ENSG00000134769:ENST00000598334:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000590412:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000595022:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000444659:exon1:c.A67T:p.R23W;ENSG00000134769:ENST00000269191:exon1:c.A67T:p.R23W;ENSG00000134769:ENST00000588125:exon4:c.A67T:p.R23W;ENSG00000134769:ENST00000283365:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000399113:exon1:c.A67T:p.R23W;ENSG00000134769:ENST00000269190:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000399121:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000590598:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000597599:exon2:c.A67T:p.R23W;ENSG00000134769:ENST00000554864:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000596745:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000598774:exon2:c.A67T:p.R23W;ENSG00000134769:ENST00000315456:exon3:c.A67T:p.R23W;ENSG00000134769:ENST00000598142:exon2:c.A67T:p.R23W;	0.831711603179558	0.72
18	32336008	G	A	18	34756044	y	y	splicing	DTNA(NM_001198945:exon3:c.67+1G>A;NM_001392:exon3:c.67+1G>A;NM_032975:exon3:c.67+1G>A;NM_032979:exon3:c.67+1G>A;NM_001198940:exon3:c.67+1G>A;NM_001198939:exon3:c.67+1G>A;NM_001198938:exon3:c.67+1G>A;NM_001128175:exon3:c.67+1G>A;NM_001198941:exon2:c.67+1G>A;NM_032978:exon2:c.67+1G>A;NM_001391:exon1:c.67+1G>A;NM_001390:exon1:c.67+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon3:c.67+1G>A;ENST00000596745:exon3:c.67+1G>A;ENST00000315456:exon3:c.67+1G>A;ENST00000590412:exon3:c.67+1G>A;ENST00000590598:exon3:c.67+1G>A;ENST00000591816:exon4:c.34+1G>A;ENST00000588125:exon4:c.67+1G>A;ENST00000598334:exon3:c.67+1G>A;ENST00000399121:exon3:c.67+1G>A;ENST00000554864:exon3:c.67+1G>A;ENST00000269190:exon3:c.67+1G>A;ENST00000595022:exon3:c.67+1G>A;ENST00000598142:exon2:c.67+1G>A;ENST00000598774:exon2:c.67+1G>A;ENST00000348997:exon2:c.67+1G>A;ENST00000597599:exon2:c.67+1G>A;ENST00000269191:exon1:c.67+1G>A;ENST00000444659:exon1:c.67+1G>A;ENST00000399113:exon1:c.67+1G>A)	.	.	0.999990361384395	0.938
18	32336008	G	C	18	34756044	y	y	splicing	DTNA(NM_001198945:exon3:c.67+1G>C;NM_001392:exon3:c.67+1G>C;NM_032975:exon3:c.67+1G>C;NM_032979:exon3:c.67+1G>C;NM_001198940:exon3:c.67+1G>C;NM_001198939:exon3:c.67+1G>C;NM_001198938:exon3:c.67+1G>C;NM_001128175:exon3:c.67+1G>C;NM_001198941:exon2:c.67+1G>C;NM_032978:exon2:c.67+1G>C;NM_001391:exon1:c.67+1G>C;NM_001390:exon1:c.67+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon3:c.67+1G>C;ENST00000596745:exon3:c.67+1G>C;ENST00000315456:exon3:c.67+1G>C;ENST00000590412:exon3:c.67+1G>C;ENST00000590598:exon3:c.67+1G>C;ENST00000591816:exon4:c.34+1G>C;ENST00000588125:exon4:c.67+1G>C;ENST00000598334:exon3:c.67+1G>C;ENST00000399121:exon3:c.67+1G>C;ENST00000554864:exon3:c.67+1G>C;ENST00000269190:exon3:c.67+1G>C;ENST00000595022:exon3:c.67+1G>C;ENST00000598142:exon2:c.67+1G>C;ENST00000598774:exon2:c.67+1G>C;ENST00000348997:exon2:c.67+1G>C;ENST00000597599:exon2:c.67+1G>C;ENST00000269191:exon1:c.67+1G>C;ENST00000444659:exon1:c.67+1G>C;ENST00000399113:exon1:c.67+1G>C)	.	.	0.999990361384395	0.938
18	32336008	G	T	18	34756044	y	y	splicing	DTNA(NM_001198945:exon3:c.67+1G>T;NM_001392:exon3:c.67+1G>T;NM_032975:exon3:c.67+1G>T;NM_032979:exon3:c.67+1G>T;NM_001198940:exon3:c.67+1G>T;NM_001198939:exon3:c.67+1G>T;NM_001198938:exon3:c.67+1G>T;NM_001128175:exon3:c.67+1G>T;NM_001198941:exon2:c.67+1G>T;NM_032978:exon2:c.67+1G>T;NM_001391:exon1:c.67+1G>T;NM_001390:exon1:c.67+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon3:c.67+1G>T;ENST00000596745:exon3:c.67+1G>T;ENST00000315456:exon3:c.67+1G>T;ENST00000590412:exon3:c.67+1G>T;ENST00000590598:exon3:c.67+1G>T;ENST00000591816:exon4:c.34+1G>T;ENST00000588125:exon4:c.67+1G>T;ENST00000598334:exon3:c.67+1G>T;ENST00000399121:exon3:c.67+1G>T;ENST00000554864:exon3:c.67+1G>T;ENST00000269190:exon3:c.67+1G>T;ENST00000595022:exon3:c.67+1G>T;ENST00000598142:exon2:c.67+1G>T;ENST00000598774:exon2:c.67+1G>T;ENST00000348997:exon2:c.67+1G>T;ENST00000597599:exon2:c.67+1G>T;ENST00000269191:exon1:c.67+1G>T;ENST00000444659:exon1:c.67+1G>T;ENST00000399113:exon1:c.67+1G>T)	.	.	0.999990361384395	0.938
18	32336009	T	A	18	34756045	y	y	splicing	DTNA(NM_001198945:exon3:c.67+2T>A;NM_001392:exon3:c.67+2T>A;NM_032975:exon3:c.67+2T>A;NM_032979:exon3:c.67+2T>A;NM_001198940:exon3:c.67+2T>A;NM_001198939:exon3:c.67+2T>A;NM_001198938:exon3:c.67+2T>A;NM_001128175:exon3:c.67+2T>A;NM_001198941:exon2:c.67+2T>A;NM_032978:exon2:c.67+2T>A;NM_001391:exon1:c.67+2T>A;NM_001390:exon1:c.67+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon3:c.67+2T>A;ENST00000596745:exon3:c.67+2T>A;ENST00000315456:exon3:c.67+2T>A;ENST00000590412:exon3:c.67+2T>A;ENST00000590598:exon3:c.67+2T>A;ENST00000591816:exon4:c.34+2T>A;ENST00000588125:exon4:c.67+2T>A;ENST00000598334:exon3:c.67+2T>A;ENST00000399121:exon3:c.67+2T>A;ENST00000554864:exon3:c.67+2T>A;ENST00000269190:exon3:c.67+2T>A;ENST00000595022:exon3:c.67+2T>A;ENST00000598142:exon2:c.67+2T>A;ENST00000598774:exon2:c.67+2T>A;ENST00000348997:exon2:c.67+2T>A;ENST00000597599:exon2:c.67+2T>A;ENST00000269191:exon1:c.67+2T>A;ENST00000444659:exon1:c.67+2T>A;ENST00000399113:exon1:c.67+2T>A)	.	.	0.999988247793601	0.932
18	32336009	T	C	18	34756045	y	y	splicing	DTNA(NM_001198945:exon3:c.67+2T>C;NM_001392:exon3:c.67+2T>C;NM_032975:exon3:c.67+2T>C;NM_032979:exon3:c.67+2T>C;NM_001198940:exon3:c.67+2T>C;NM_001198939:exon3:c.67+2T>C;NM_001198938:exon3:c.67+2T>C;NM_001128175:exon3:c.67+2T>C;NM_001198941:exon2:c.67+2T>C;NM_032978:exon2:c.67+2T>C;NM_001391:exon1:c.67+2T>C;NM_001390:exon1:c.67+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon3:c.67+2T>C;ENST00000596745:exon3:c.67+2T>C;ENST00000315456:exon3:c.67+2T>C;ENST00000590412:exon3:c.67+2T>C;ENST00000590598:exon3:c.67+2T>C;ENST00000591816:exon4:c.34+2T>C;ENST00000588125:exon4:c.67+2T>C;ENST00000598334:exon3:c.67+2T>C;ENST00000399121:exon3:c.67+2T>C;ENST00000554864:exon3:c.67+2T>C;ENST00000269190:exon3:c.67+2T>C;ENST00000595022:exon3:c.67+2T>C;ENST00000598142:exon2:c.67+2T>C;ENST00000598774:exon2:c.67+2T>C;ENST00000348997:exon2:c.67+2T>C;ENST00000597599:exon2:c.67+2T>C;ENST00000269191:exon1:c.67+2T>C;ENST00000444659:exon1:c.67+2T>C;ENST00000399113:exon1:c.67+2T>C)	.	.	0.998073660937629	0.83
18	32336009	T	G	18	34756045	y	y	splicing	DTNA(NM_001198945:exon3:c.67+2T>G;NM_001392:exon3:c.67+2T>G;NM_032975:exon3:c.67+2T>G;NM_032979:exon3:c.67+2T>G;NM_001198940:exon3:c.67+2T>G;NM_001198939:exon3:c.67+2T>G;NM_001198938:exon3:c.67+2T>G;NM_001128175:exon3:c.67+2T>G;NM_001198941:exon2:c.67+2T>G;NM_032978:exon2:c.67+2T>G;NM_001391:exon1:c.67+2T>G;NM_001390:exon1:c.67+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon3:c.67+2T>G;ENST00000596745:exon3:c.67+2T>G;ENST00000315456:exon3:c.67+2T>G;ENST00000590412:exon3:c.67+2T>G;ENST00000590598:exon3:c.67+2T>G;ENST00000591816:exon4:c.34+2T>G;ENST00000588125:exon4:c.67+2T>G;ENST00000598334:exon3:c.67+2T>G;ENST00000399121:exon3:c.67+2T>G;ENST00000554864:exon3:c.67+2T>G;ENST00000269190:exon3:c.67+2T>G;ENST00000595022:exon3:c.67+2T>G;ENST00000598142:exon2:c.67+2T>G;ENST00000598774:exon2:c.67+2T>G;ENST00000348997:exon2:c.67+2T>G;ENST00000597599:exon2:c.67+2T>G;ENST00000269191:exon1:c.67+2T>G;ENST00000444659:exon1:c.67+2T>G;ENST00000399113:exon1:c.67+2T>G)	.	.	0.999988247793601	0.932
18	32336010	A	C	18	34756046	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999887452593024	0.946
18	32336010	A	G	18	34756046	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.767424263622207	0.62
18	32336010	A	T	18	34756046	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999887452593024	0.964
18	32336011	A	C	18	34756047	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999305294725722	0.922
18	32336011	A	G	18	34756047	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.998764470468061	0.932
18	32336011	A	T	18	34756047	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999715795653764	0.946
18	32336012	G	A	18	34756048	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999987040453402	1.0
18	32336012	G	C	18	34756048	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999976008337081	0.99
18	32336012	G	T	18	34756048	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999987040453402	0.978
18	32336013	T	A	18	34756049	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999695057720694	0.83
18	32336013	T	C	18	34756049	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.998904299975118	0.94
18	32336013	T	G	18	34756049	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999439823143409	0.9
18	32336014	A	C	18	34756050	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.155397438648048	0.318
18	32336014	A	G	18	34756050	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.213331694143553	0.444
18	32336014	A	T	18	34756050	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.226484150869183	0.406
18	32336015	T	A	18	34756051	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	8.07749293624879E-5	0.0
18	32336015	T	C	18	34756051	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.78319243764964E-4	0.004
18	32336015	T	G	18	34756051	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.88400223887E-4	0.004
18	32337110	T	A	18	34757146	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.0123934927441747	0.022
18	32337110	T	C	18	34757146	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00724745347536928	0.022
18	32337110	T	G	18	34757146	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00724745347536928	0.036
18	32337111	T	A	18	34757147	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	7.75002676380762E-5	0.006
18	32337111	T	C	18	34757147	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.13324429737708E-4	0.008
18	32337111	T	G	18	34757147	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.13324429737708E-4	0.006
18	32337112	C	A	18	34757148	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.46413180592529E-4	0.006
18	32337112	C	G	18	34757148	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.46413180592529E-4	0.016
18	32337112	C	T	18	34757148	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.46413180592529E-4	0.014
18	32337113	C	A	18	34757149	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	2.66426746904339E-5	0.0
18	32337113	C	G	18	34757149	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	2.66426746904339E-5	0.0
18	32337113	C	T	18	34757149	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	2.66426746904339E-5	0.0
18	32337114	A	C	18	34757150	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	8.55472960422104E-5	0.0
18	32337114	A	G	18	34757150	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	8.55472960422104E-5	0.0
18	32337114	A	T	18	34757150	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.40053381145528E-4	0.002
18	32337115	C	A	18	34757151	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.97104693658708E-4	0.016
18	32337115	C	G	18	34757151	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.97104693658708E-4	0.016
18	32337115	C	T	18	34757151	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.97104693658708E-4	0.016
18	32337116	T	A	18	34757152	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.12708559664017E-4	0.0
18	32337116	T	C	18	34757152	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	9.68632724264029E-5	0.0
18	32337116	T	G	18	34757152	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	9.68632724264029E-5	0.0
18	32337117	T	A	18	34757153	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.60947442822834E-5	0.0
18	32337117	T	C	18	34757153	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.60947442822834E-5	0.0
18	32337117	T	G	18	34757153	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.60947442822834E-5	0.0
18	32337118	T	A	18	34757154	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00481517939330425	0.042
18	32337118	T	C	18	34757154	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00481517939330425	0.01
18	32337118	T	G	18	34757154	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.00481517939330425	0.01
18	32337119	T	A	18	34757155	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	7.80764939879926E-5	0.038
18	32337119	T	C	18	34757155	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	5.24358960865353E-5	0.036
18	32337119	T	G	18	34757155	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	5.24358960865353E-5	0.036
18	32337120	A	C	18	34757156	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.4188848540582E-4	0.0
18	32337120	A	G	18	34757156	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.4188848540582E-4	0.0
18	32337120	A	T	18	34757156	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	1.99631197343012E-4	0.004
18	32337121	G	A	18	34757157	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	5.69439264402225E-5	0.0
18	32337121	G	C	18	34757157	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	5.69439264402225E-5	0.0
18	32337121	G	T	18	34757157	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	5.69439264402225E-5	0.0
18	32337122	A	C	18	34757158	n	y	intronic	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	1.98074210530117E-4	0.008
18	32337122	A	G	18	34757158	n	y	intronic	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	1.98074210530117E-4	0.01
18	32337122	A	T	18	34757158	n	y	intronic	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	1.98074210530117E-4	0.026
18	32337123	G	A	18	34757159	n	y	intronic	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	1.42005417025298E-5	0.002
18	32337123	G	C	18	34757159	n	y	intronic	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	1.42005417025298E-5	0.002
18	32337123	G	T	18	34757159	n	y	intronic	DTNA	.	.	ncRNA_UTR5	ENSG00000134769	.	.	1.42005417025298E-5	0.002
18	32337250	C	A	18	34757286	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.C71A:p.P24H;	2.93008933363103E-5	0.0
18	32337250	C	G	18	34757286	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.C71G:p.P24R;	2.93008933363103E-5	0.0
18	32337250	C	T	18	34757286	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.C71T:p.P24L;	2.93008933363103E-5	0.0
18	32337251	T	A	18	34757287	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.T72A:p.P24P;	3.80963485180756E-4	0.008
18	32337251	T	C	18	34757287	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.T72C:p.P24P;	5.49974141094784E-4	0.004
18	32337251	T	G	18	34757287	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.T72G:p.P24P;	5.49974141094784E-4	0.004
18	32337252	A	C	18	34757288	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.A73C:p.R25R;	3.33132576485227E-5	0.0
18	32337252	A	G	18	34757288	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.A73G:p.R25G;	3.33132576485227E-5	0.0
18	32337252	A	T	18	34757288	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000588949:exon3:c.A73T:p.R25W;	3.33132576485227E-5	0.0
18	32337253	G	A	18	34757289	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000588949:exon3:c.73+1G>A)	.	.	5.7106675465155E-5	0.0
18	32337253	G	C	18	34757289	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000588949:exon3:c.73+1G>C)	.	.	5.7106675465155E-5	0.0
18	32337253	G	T	18	34757289	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000588949:exon3:c.73+1G>T)	.	.	5.7106675465155E-5	0.0
18	32337254	T	A	18	34757290	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000588949:exon3:c.73+2T>A)	.	.	4.54404724015672E-5	0.0
18	32337254	T	C	18	34757290	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000588949:exon3:c.73+2T>C)	.	.	4.54404724015672E-5	0.0
18	32337254	T	G	18	34757290	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000588949:exon3:c.73+2T>G)	.	.	4.54404724015672E-5	0.0
18	32337255	G	A	18	34757291	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.75289494538373E-5	0.002
18	32337255	G	C	18	34757291	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.75289494538373E-5	0.002
18	32337255	G	T	18	34757291	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.75289494538373E-5	0.002
18	32337256	A	C	18	34757292	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.85062238621114E-5	0.002
18	32337256	A	G	18	34757292	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.85062238621114E-5	0.002
18	32337256	A	T	18	34757292	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.03334260509943E-4	0.002
18	32337257	G	A	18	34757293	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	5.80793394726513E-5	0.014
18	32337257	G	C	18	34757293	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	4.04096031973704E-5	0.012
18	32337257	G	T	18	34757293	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	4.04096031973704E-5	0.012
18	32337258	T	A	18	34757294	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	5.69439264402225E-5	0.0
18	32337258	T	C	18	34757294	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	5.15941453541388E-5	0.002
18	32337258	T	G	18	34757294	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	5.15941453541388E-5	0.002
18	32337259	A	C	18	34757295	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.20590404879984E-5	0.0
18	32337259	A	G	18	34757295	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.20590404879984E-5	0.0
18	32337259	A	T	18	34757295	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.86269840649936E-5	0.0
18	32337260	C	A	18	34757296	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	8.35520562038957E-5	0.002
18	32337260	C	G	18	34757296	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	8.35520562038957E-5	0.002
18	32337260	C	T	18	34757296	n	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	8.35520562038957E-5	0.002
18	32345913	T	A	18	34765949	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.00437457496791402	0.19
18	32345913	T	C	18	34765949	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	7.53786792296076E-4	0.076
18	32345913	T	G	18	34765949	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.00239897140375786	0.2
18	32345914	C	A	18	34765950	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.0151545183250582	0.078
18	32345914	C	G	18	34765950	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	7.82554337358081E-4	0.084
18	32345914	C	T	18	34765950	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	7.91320489499667E-5	0.002
18	32345915	C	A	18	34765951	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.00176945661814285	0.044
18	32345915	C	G	18	34765951	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.00188935468417033	0.022
18	32345915	C	T	18	34765951	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	9.1773724961696E-5	0.014
18	32345916	C	A	18	34765952	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.0262748727580762	0.1
18	32345916	C	G	18	34765952	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	5.63670624818968E-4	0.064
18	32345916	C	T	18	34765952	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	9.02106414727205E-5	0.012
18	32345917	C	A	18	34765953	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.998924733569141	0.91
18	32345917	C	G	18	34765953	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	8.30484112093543E-4	0.068
18	32345917	C	T	18	34765953	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	2.17347484184677E-5	0.0
18	32345918	G	A	18	34765954	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	1.77547636659262E-5	0.002
18	32345918	G	C	18	34765954	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	1.93801695019932E-5	0.008
18	32345918	G	T	18	34765954	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	1.64165326478852E-5	0.002
18	32345919	C	A	18	34765955	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.0120877884592671	0.334
18	32345919	C	G	18	34765955	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.016219830170173	0.248
18	32345919	C	T	18	34765955	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	1.01423519185317E-4	0.0
18	32345920	A	C	18	34765956	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	2.62211351738659E-5	0.008
18	32345920	A	G	18	34765956	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	1.99078228179078E-5	0.0
18	32345920	A	T	18	34765956	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	2.64667378741121E-5	0.008
18	32345921	C	A	18	34765957	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	1.10654428825013E-4	0.002
18	32345921	C	G	18	34765957	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.999869597865597	0.938
18	32345921	C	T	18	34765957	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	1.47220613590711E-4	0.012
18	32345922	T	A	18	34765958	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.0564543940763006	0.362
18	32345922	T	C	18	34765958	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	1.10670801511454E-4	0.002
18	32345922	T	G	18	34765958	y	n	intronic	DTNA	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.94048922213714	0.71
18	32345923	A	C	18	34765959	y	n	splicing	DTNA(NM_001198945:exon4:c.68-2A>C;NM_001392:exon4:c.68-2A>C;NM_032975:exon4:c.68-2A>C;NM_032979:exon4:c.68-2A>C;NM_001198940:exon4:c.68-2A>C;NM_001198939:exon4:c.68-2A>C;NM_001198938:exon4:c.68-2A>C;NM_001128175:exon4:c.68-2A>C;NM_001198941:exon3:c.68-2A>C;NM_032978:exon3:c.68-2A>C;NM_001391:exon2:c.68-2A>C;NM_001390:exon2:c.68-2A>C)	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.999966203349492	0.938
18	32345923	A	G	18	34765959	y	n	splicing	DTNA(NM_001198945:exon4:c.68-2A>G;NM_001392:exon4:c.68-2A>G;NM_032975:exon4:c.68-2A>G;NM_032979:exon4:c.68-2A>G;NM_001198940:exon4:c.68-2A>G;NM_001198939:exon4:c.68-2A>G;NM_001198938:exon4:c.68-2A>G;NM_001128175:exon4:c.68-2A>G;NM_001198941:exon3:c.68-2A>G;NM_032978:exon3:c.68-2A>G;NM_001391:exon2:c.68-2A>G;NM_001390:exon2:c.68-2A>G)	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.999966203349492	0.938
18	32345923	A	T	18	34765959	y	n	splicing	DTNA(NM_001198945:exon4:c.68-2A>T;NM_001392:exon4:c.68-2A>T;NM_032975:exon4:c.68-2A>T;NM_032979:exon4:c.68-2A>T;NM_001198940:exon4:c.68-2A>T;NM_001198939:exon4:c.68-2A>T;NM_001198938:exon4:c.68-2A>T;NM_001128175:exon4:c.68-2A>T;NM_001198941:exon3:c.68-2A>T;NM_032978:exon3:c.68-2A>T;NM_001391:exon2:c.68-2A>T;NM_001390:exon2:c.68-2A>T)	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.999986903042585	0.94
18	32345924	G	A	18	34765960	y	n	splicing	DTNA(NM_001198945:exon4:c.68-1G>A;NM_001392:exon4:c.68-1G>A;NM_032975:exon4:c.68-1G>A;NM_032979:exon4:c.68-1G>A;NM_001198940:exon4:c.68-1G>A;NM_001198939:exon4:c.68-1G>A;NM_001198938:exon4:c.68-1G>A;NM_001128175:exon4:c.68-1G>A;NM_001198941:exon3:c.68-1G>A;NM_032978:exon3:c.68-1G>A;NM_001391:exon2:c.68-1G>A;NM_001390:exon2:c.68-1G>A)	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.999986675681007	0.912
18	32345924	G	C	18	34765960	y	n	splicing	DTNA(NM_001198945:exon4:c.68-1G>C;NM_001392:exon4:c.68-1G>C;NM_032975:exon4:c.68-1G>C;NM_032979:exon4:c.68-1G>C;NM_001198940:exon4:c.68-1G>C;NM_001198939:exon4:c.68-1G>C;NM_001198938:exon4:c.68-1G>C;NM_001128175:exon4:c.68-1G>C;NM_001198941:exon3:c.68-1G>C;NM_032978:exon3:c.68-1G>C;NM_001391:exon2:c.68-1G>C;NM_001390:exon2:c.68-1G>C)	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.999986675681007	0.954
18	32345924	G	T	18	34765960	y	n	splicing	DTNA(NM_001198945:exon4:c.68-1G>T;NM_001392:exon4:c.68-1G>T;NM_032975:exon4:c.68-1G>T;NM_032979:exon4:c.68-1G>T;NM_001198940:exon4:c.68-1G>T;NM_001198939:exon4:c.68-1G>T;NM_001198938:exon4:c.68-1G>T;NM_001128175:exon4:c.68-1G>T;NM_001198941:exon3:c.68-1G>T;NM_032978:exon3:c.68-1G>T;NM_001391:exon2:c.68-1G>T;NM_001390:exon2:c.68-1G>T)	.	.	ncRNA_exonic	ENSG00000268873	.	.	0.999986675681007	0.954
18	32345925	G	A	18	34765961	y	n	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.G68A:p.R23K;DTNA:NM_001392:exon4:c.G68A:p.R23K;DTNA:NM_032978:exon3:c.G68A:p.R23K;DTNA:NM_001390:exon2:c.G68A:p.R23K;DTNA:NM_001198938:exon4:c.G68A:p.R23K;DTNA:NM_001198945:exon4:c.G68A:p.R23K;DTNA:NM_001391:exon2:c.G68A:p.R23K;DTNA:NM_001128175:exon4:c.G68A:p.R23K;DTNA:NM_001198940:exon4:c.G68A:p.R23K;DTNA:NM_001198939:exon4:c.G68A:p.R23K;DTNA:NM_001198941:exon3:c.G68A:p.R23K;DTNA:NM_032975:exon4:c.G68A:p.R23K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.G68A:p.R23K;ENSG00000134769:ENST00000591816:exon5:c.G35A:p.R12K;ENSG00000134769:ENST00000598334:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000590412:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000595022:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000444659:exon2:c.G68A:p.R23K;ENSG00000134769:ENST00000269191:exon2:c.G68A:p.R23K;ENSG00000134769:ENST00000588125:exon5:c.G68A:p.R23K;ENSG00000134769:ENST00000283365:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000399113:exon2:c.G68A:p.R23K;ENSG00000134769:ENST00000269190:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000399121:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000590598:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000597599:exon3:c.G68A:p.R23K;ENSG00000134769:ENST00000554864:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000596745:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000588949:exon4:c.G74A:p.R25K;ENSG00000134769:ENST00000598774:exon3:c.G68A:p.R23K;ENSG00000134769:ENST00000315456:exon4:c.G68A:p.R23K;ENSG00000134769:ENST00000598142:exon3:c.G68A:p.R23K;	0.999878292413605	0.954
18	32345925	G	C	18	34765961	y	n	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.G68C:p.R23T;DTNA:NM_001392:exon4:c.G68C:p.R23T;DTNA:NM_032978:exon3:c.G68C:p.R23T;DTNA:NM_001390:exon2:c.G68C:p.R23T;DTNA:NM_001198938:exon4:c.G68C:p.R23T;DTNA:NM_001198945:exon4:c.G68C:p.R23T;DTNA:NM_001391:exon2:c.G68C:p.R23T;DTNA:NM_001128175:exon4:c.G68C:p.R23T;DTNA:NM_001198940:exon4:c.G68C:p.R23T;DTNA:NM_001198939:exon4:c.G68C:p.R23T;DTNA:NM_001198941:exon3:c.G68C:p.R23T;DTNA:NM_032975:exon4:c.G68C:p.R23T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.G68C:p.R23T;ENSG00000134769:ENST00000591816:exon5:c.G35C:p.R12T;ENSG00000134769:ENST00000598334:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000590412:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000595022:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000444659:exon2:c.G68C:p.R23T;ENSG00000134769:ENST00000269191:exon2:c.G68C:p.R23T;ENSG00000134769:ENST00000588125:exon5:c.G68C:p.R23T;ENSG00000134769:ENST00000283365:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000399113:exon2:c.G68C:p.R23T;ENSG00000134769:ENST00000269190:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000399121:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000590598:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000597599:exon3:c.G68C:p.R23T;ENSG00000134769:ENST00000554864:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000596745:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000588949:exon4:c.G74C:p.R25T;ENSG00000134769:ENST00000598774:exon3:c.G68C:p.R23T;ENSG00000134769:ENST00000315456:exon4:c.G68C:p.R23T;ENSG00000134769:ENST00000598142:exon3:c.G68C:p.R23T;	0.999767067193797	0.99
18	32345925	G	T	18	34765961	y	n	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.G68T:p.R23M;DTNA:NM_001392:exon4:c.G68T:p.R23M;DTNA:NM_032978:exon3:c.G68T:p.R23M;DTNA:NM_001390:exon2:c.G68T:p.R23M;DTNA:NM_001198938:exon4:c.G68T:p.R23M;DTNA:NM_001198945:exon4:c.G68T:p.R23M;DTNA:NM_001391:exon2:c.G68T:p.R23M;DTNA:NM_001128175:exon4:c.G68T:p.R23M;DTNA:NM_001198940:exon4:c.G68T:p.R23M;DTNA:NM_001198939:exon4:c.G68T:p.R23M;DTNA:NM_001198941:exon3:c.G68T:p.R23M;DTNA:NM_032975:exon4:c.G68T:p.R23M;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.G68T:p.R23M;ENSG00000134769:ENST00000591816:exon5:c.G35T:p.R12M;ENSG00000134769:ENST00000598334:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000590412:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000595022:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000444659:exon2:c.G68T:p.R23M;ENSG00000134769:ENST00000269191:exon2:c.G68T:p.R23M;ENSG00000134769:ENST00000588125:exon5:c.G68T:p.R23M;ENSG00000134769:ENST00000283365:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000399113:exon2:c.G68T:p.R23M;ENSG00000134769:ENST00000269190:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000399121:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000590598:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000597599:exon3:c.G68T:p.R23M;ENSG00000134769:ENST00000554864:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000596745:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000588949:exon4:c.G74T:p.R25M;ENSG00000134769:ENST00000598774:exon3:c.G68T:p.R23M;ENSG00000134769:ENST00000315456:exon4:c.G68T:p.R23M;ENSG00000134769:ENST00000598142:exon3:c.G68T:p.R23M;	0.999881740599278	0.996
18	32345926	G	A	18	34765962	y	n	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon4:c.G69A:p.R23R;DTNA:NM_001392:exon4:c.G69A:p.R23R;DTNA:NM_032978:exon3:c.G69A:p.R23R;DTNA:NM_001390:exon2:c.G69A:p.R23R;DTNA:NM_001198938:exon4:c.G69A:p.R23R;DTNA:NM_001198945:exon4:c.G69A:p.R23R;DTNA:NM_001391:exon2:c.G69A:p.R23R;DTNA:NM_001128175:exon4:c.G69A:p.R23R;DTNA:NM_001198940:exon4:c.G69A:p.R23R;DTNA:NM_001198939:exon4:c.G69A:p.R23R;DTNA:NM_001198941:exon3:c.G69A:p.R23R;DTNA:NM_032975:exon4:c.G69A:p.R23R;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.G69A:p.R23R;ENSG00000134769:ENST00000591816:exon5:c.G36A:p.R12R;ENSG00000134769:ENST00000598334:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000590412:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000595022:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000444659:exon2:c.G69A:p.R23R;ENSG00000134769:ENST00000269191:exon2:c.G69A:p.R23R;ENSG00000134769:ENST00000588125:exon5:c.G69A:p.R23R;ENSG00000134769:ENST00000283365:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000399113:exon2:c.G69A:p.R23R;ENSG00000134769:ENST00000269190:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000399121:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000590598:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000597599:exon3:c.G69A:p.R23R;ENSG00000134769:ENST00000554864:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000596745:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000588949:exon4:c.G75A:p.R25R;ENSG00000134769:ENST00000598774:exon3:c.G69A:p.R23R;ENSG00000134769:ENST00000315456:exon4:c.G69A:p.R23R;ENSG00000134769:ENST00000598142:exon3:c.G69A:p.R23R;	2.90379288195057E-4	0.046
18	32345926	G	C	18	34765962	y	n	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.G69C:p.R23S;DTNA:NM_001392:exon4:c.G69C:p.R23S;DTNA:NM_032978:exon3:c.G69C:p.R23S;DTNA:NM_001390:exon2:c.G69C:p.R23S;DTNA:NM_001198938:exon4:c.G69C:p.R23S;DTNA:NM_001198945:exon4:c.G69C:p.R23S;DTNA:NM_001391:exon2:c.G69C:p.R23S;DTNA:NM_001128175:exon4:c.G69C:p.R23S;DTNA:NM_001198940:exon4:c.G69C:p.R23S;DTNA:NM_001198939:exon4:c.G69C:p.R23S;DTNA:NM_001198941:exon3:c.G69C:p.R23S;DTNA:NM_032975:exon4:c.G69C:p.R23S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.G69C:p.R23S;ENSG00000134769:ENST00000591816:exon5:c.G36C:p.R12S;ENSG00000134769:ENST00000598334:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000590412:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000595022:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000444659:exon2:c.G69C:p.R23S;ENSG00000134769:ENST00000269191:exon2:c.G69C:p.R23S;ENSG00000134769:ENST00000588125:exon5:c.G69C:p.R23S;ENSG00000134769:ENST00000283365:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000399113:exon2:c.G69C:p.R23S;ENSG00000134769:ENST00000269190:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000399121:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000590598:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000597599:exon3:c.G69C:p.R23S;ENSG00000134769:ENST00000554864:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000596745:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000588949:exon4:c.G75C:p.R25S;ENSG00000134769:ENST00000598774:exon3:c.G69C:p.R23S;ENSG00000134769:ENST00000315456:exon4:c.G69C:p.R23S;ENSG00000134769:ENST00000598142:exon3:c.G69C:p.R23S;	0.0325731953361908	0.206
18	32345926	G	T	18	34765962	y	n	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.G69T:p.R23S;DTNA:NM_001392:exon4:c.G69T:p.R23S;DTNA:NM_032978:exon3:c.G69T:p.R23S;DTNA:NM_001390:exon2:c.G69T:p.R23S;DTNA:NM_001198938:exon4:c.G69T:p.R23S;DTNA:NM_001198945:exon4:c.G69T:p.R23S;DTNA:NM_001391:exon2:c.G69T:p.R23S;DTNA:NM_001128175:exon4:c.G69T:p.R23S;DTNA:NM_001198940:exon4:c.G69T:p.R23S;DTNA:NM_001198939:exon4:c.G69T:p.R23S;DTNA:NM_001198941:exon3:c.G69T:p.R23S;DTNA:NM_032975:exon4:c.G69T:p.R23S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.G69T:p.R23S;ENSG00000134769:ENST00000591816:exon5:c.G36T:p.R12S;ENSG00000134769:ENST00000598334:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000590412:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000595022:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000444659:exon2:c.G69T:p.R23S;ENSG00000134769:ENST00000269191:exon2:c.G69T:p.R23S;ENSG00000134769:ENST00000588125:exon5:c.G69T:p.R23S;ENSG00000134769:ENST00000283365:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000399113:exon2:c.G69T:p.R23S;ENSG00000134769:ENST00000269190:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000399121:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000590598:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000597599:exon3:c.G69T:p.R23S;ENSG00000134769:ENST00000554864:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000596745:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000588949:exon4:c.G75T:p.R25S;ENSG00000134769:ENST00000598774:exon3:c.G69T:p.R23S;ENSG00000134769:ENST00000315456:exon4:c.G69T:p.R23S;ENSG00000134769:ENST00000598142:exon3:c.G69T:p.R23S;	0.103532140144593	0.314
18	32346003	A	C	18	34766039	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.A146C:p.N49T;DTNA:NM_001392:exon4:c.A146C:p.N49T;DTNA:NM_032978:exon3:c.A146C:p.N49T;DTNA:NM_001390:exon2:c.A146C:p.N49T;DTNA:NM_001198938:exon4:c.A146C:p.N49T;DTNA:NM_001198945:exon4:c.A146C:p.N49T;DTNA:NM_001391:exon2:c.A146C:p.N49T;DTNA:NM_001128175:exon4:c.A146C:p.N49T;DTNA:NM_001198940:exon4:c.A146C:p.N49T;DTNA:NM_001198939:exon4:c.A146C:p.N49T;DTNA:NM_001198941:exon3:c.A146C:p.N49T;DTNA:NM_032975:exon4:c.A146C:p.N49T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.A146C:p.N49T;ENSG00000134769:ENST00000598334:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000590412:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000595022:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000444659:exon2:c.A146C:p.N49T;ENSG00000134769:ENST00000269191:exon2:c.A146C:p.N49T;ENSG00000134769:ENST00000283365:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000399113:exon2:c.A146C:p.N49T;ENSG00000134769:ENST00000269190:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000399121:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000590598:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000597599:exon3:c.A146C:p.N49T;ENSG00000134769:ENST00000554864:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000596745:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000588949:exon4:c.A152C:p.N51T;ENSG00000134769:ENST00000598774:exon3:c.A146C:p.N49T;ENSG00000134769:ENST00000315456:exon4:c.A146C:p.N49T;ENSG00000134769:ENST00000598142:exon3:c.A146C:p.N49T;	0.557956144290269	0.716
18	32346003	A	G	18	34766039	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.A146G:p.N49S;DTNA:NM_001392:exon4:c.A146G:p.N49S;DTNA:NM_032978:exon3:c.A146G:p.N49S;DTNA:NM_001390:exon2:c.A146G:p.N49S;DTNA:NM_001198938:exon4:c.A146G:p.N49S;DTNA:NM_001198945:exon4:c.A146G:p.N49S;DTNA:NM_001391:exon2:c.A146G:p.N49S;DTNA:NM_001128175:exon4:c.A146G:p.N49S;DTNA:NM_001198940:exon4:c.A146G:p.N49S;DTNA:NM_001198939:exon4:c.A146G:p.N49S;DTNA:NM_001198941:exon3:c.A146G:p.N49S;DTNA:NM_032975:exon4:c.A146G:p.N49S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.A146G:p.N49S;ENSG00000134769:ENST00000598334:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000590412:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000595022:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000444659:exon2:c.A146G:p.N49S;ENSG00000134769:ENST00000269191:exon2:c.A146G:p.N49S;ENSG00000134769:ENST00000283365:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000399113:exon2:c.A146G:p.N49S;ENSG00000134769:ENST00000269190:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000399121:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000590598:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000597599:exon3:c.A146G:p.N49S;ENSG00000134769:ENST00000554864:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000596745:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000588949:exon4:c.A152G:p.N51S;ENSG00000134769:ENST00000598774:exon3:c.A146G:p.N49S;ENSG00000134769:ENST00000315456:exon4:c.A146G:p.N49S;ENSG00000134769:ENST00000598142:exon3:c.A146G:p.N49S;	0.0924056647399145	0.366
18	32346003	A	T	18	34766039	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.A146T:p.N49I;DTNA:NM_001392:exon4:c.A146T:p.N49I;DTNA:NM_032978:exon3:c.A146T:p.N49I;DTNA:NM_001390:exon2:c.A146T:p.N49I;DTNA:NM_001198938:exon4:c.A146T:p.N49I;DTNA:NM_001198945:exon4:c.A146T:p.N49I;DTNA:NM_001391:exon2:c.A146T:p.N49I;DTNA:NM_001128175:exon4:c.A146T:p.N49I;DTNA:NM_001198940:exon4:c.A146T:p.N49I;DTNA:NM_001198939:exon4:c.A146T:p.N49I;DTNA:NM_001198941:exon3:c.A146T:p.N49I;DTNA:NM_032975:exon4:c.A146T:p.N49I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.A146T:p.N49I;ENSG00000134769:ENST00000598334:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000590412:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000595022:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000444659:exon2:c.A146T:p.N49I;ENSG00000134769:ENST00000269191:exon2:c.A146T:p.N49I;ENSG00000134769:ENST00000283365:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000399113:exon2:c.A146T:p.N49I;ENSG00000134769:ENST00000269190:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000399121:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000590598:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000597599:exon3:c.A146T:p.N49I;ENSG00000134769:ENST00000554864:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000596745:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000588949:exon4:c.A152T:p.N51I;ENSG00000134769:ENST00000598774:exon3:c.A146T:p.N49I;ENSG00000134769:ENST00000315456:exon4:c.A146T:p.N49I;ENSG00000134769:ENST00000598142:exon3:c.A146T:p.N49I;	0.933982777251346	0.628
18	32346004	T	A	18	34766040	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.T147A:p.N49K;DTNA:NM_001392:exon4:c.T147A:p.N49K;DTNA:NM_032978:exon3:c.T147A:p.N49K;DTNA:NM_001390:exon2:c.T147A:p.N49K;DTNA:NM_001198938:exon4:c.T147A:p.N49K;DTNA:NM_001198945:exon4:c.T147A:p.N49K;DTNA:NM_001391:exon2:c.T147A:p.N49K;DTNA:NM_001128175:exon4:c.T147A:p.N49K;DTNA:NM_001198940:exon4:c.T147A:p.N49K;DTNA:NM_001198939:exon4:c.T147A:p.N49K;DTNA:NM_001198941:exon3:c.T147A:p.N49K;DTNA:NM_032975:exon4:c.T147A:p.N49K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.T147A:p.N49K;ENSG00000134769:ENST00000598334:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000590412:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000595022:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000444659:exon2:c.T147A:p.N49K;ENSG00000134769:ENST00000269191:exon2:c.T147A:p.N49K;ENSG00000134769:ENST00000283365:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000399113:exon2:c.T147A:p.N49K;ENSG00000134769:ENST00000269190:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000399121:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000590598:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000597599:exon3:c.T147A:p.N49K;ENSG00000134769:ENST00000554864:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000596745:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000588949:exon4:c.T153A:p.N51K;ENSG00000134769:ENST00000598774:exon3:c.T147A:p.N49K;ENSG00000134769:ENST00000315456:exon4:c.T147A:p.N49K;ENSG00000134769:ENST00000598142:exon3:c.T147A:p.N49K;	9.80645711810308E-5	0.234
18	32346004	T	C	18	34766040	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon4:c.T147C:p.N49N;DTNA:NM_001392:exon4:c.T147C:p.N49N;DTNA:NM_032978:exon3:c.T147C:p.N49N;DTNA:NM_001390:exon2:c.T147C:p.N49N;DTNA:NM_001198938:exon4:c.T147C:p.N49N;DTNA:NM_001198945:exon4:c.T147C:p.N49N;DTNA:NM_001391:exon2:c.T147C:p.N49N;DTNA:NM_001128175:exon4:c.T147C:p.N49N;DTNA:NM_001198940:exon4:c.T147C:p.N49N;DTNA:NM_001198939:exon4:c.T147C:p.N49N;DTNA:NM_001198941:exon3:c.T147C:p.N49N;DTNA:NM_032975:exon4:c.T147C:p.N49N;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.T147C:p.N49N;ENSG00000134769:ENST00000598334:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000590412:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000595022:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000444659:exon2:c.T147C:p.N49N;ENSG00000134769:ENST00000269191:exon2:c.T147C:p.N49N;ENSG00000134769:ENST00000283365:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000399113:exon2:c.T147C:p.N49N;ENSG00000134769:ENST00000269190:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000399121:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000590598:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000597599:exon3:c.T147C:p.N49N;ENSG00000134769:ENST00000554864:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000596745:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000588949:exon4:c.T153C:p.N51N;ENSG00000134769:ENST00000598774:exon3:c.T147C:p.N49N;ENSG00000134769:ENST00000315456:exon4:c.T147C:p.N49N;ENSG00000134769:ENST00000598142:exon3:c.T147C:p.N49N;	4.19214700667117E-5	0.006
18	32346004	T	G	18	34766040	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.T147G:p.N49K;DTNA:NM_001392:exon4:c.T147G:p.N49K;DTNA:NM_032978:exon3:c.T147G:p.N49K;DTNA:NM_001390:exon2:c.T147G:p.N49K;DTNA:NM_001198938:exon4:c.T147G:p.N49K;DTNA:NM_001198945:exon4:c.T147G:p.N49K;DTNA:NM_001391:exon2:c.T147G:p.N49K;DTNA:NM_001128175:exon4:c.T147G:p.N49K;DTNA:NM_001198940:exon4:c.T147G:p.N49K;DTNA:NM_001198939:exon4:c.T147G:p.N49K;DTNA:NM_001198941:exon3:c.T147G:p.N49K;DTNA:NM_032975:exon4:c.T147G:p.N49K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.T147G:p.N49K;ENSG00000134769:ENST00000598334:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000590412:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000595022:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000444659:exon2:c.T147G:p.N49K;ENSG00000134769:ENST00000269191:exon2:c.T147G:p.N49K;ENSG00000134769:ENST00000283365:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000399113:exon2:c.T147G:p.N49K;ENSG00000134769:ENST00000269190:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000399121:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000590598:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000597599:exon3:c.T147G:p.N49K;ENSG00000134769:ENST00000554864:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000596745:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000588949:exon4:c.T153G:p.N51K;ENSG00000134769:ENST00000598774:exon3:c.T147G:p.N49K;ENSG00000134769:ENST00000315456:exon4:c.T147G:p.N49K;ENSG00000134769:ENST00000598142:exon3:c.T147G:p.N49K;	6.5861046042165E-4	0.144
18	32346005	T	A	18	34766041	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.T148A:p.L50M;DTNA:NM_001392:exon4:c.T148A:p.L50M;DTNA:NM_032978:exon3:c.T148A:p.L50M;DTNA:NM_001390:exon2:c.T148A:p.L50M;DTNA:NM_001198938:exon4:c.T148A:p.L50M;DTNA:NM_001198945:exon4:c.T148A:p.L50M;DTNA:NM_001391:exon2:c.T148A:p.L50M;DTNA:NM_001128175:exon4:c.T148A:p.L50M;DTNA:NM_001198940:exon4:c.T148A:p.L50M;DTNA:NM_001198939:exon4:c.T148A:p.L50M;DTNA:NM_001198941:exon3:c.T148A:p.L50M;DTNA:NM_032975:exon4:c.T148A:p.L50M;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.T148A:p.L50M;ENSG00000134769:ENST00000598334:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000590412:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000595022:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000444659:exon2:c.T148A:p.L50M;ENSG00000134769:ENST00000269191:exon2:c.T148A:p.L50M;ENSG00000134769:ENST00000283365:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000399113:exon2:c.T148A:p.L50M;ENSG00000134769:ENST00000269190:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000399121:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000590598:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000597599:exon3:c.T148A:p.L50M;ENSG00000134769:ENST00000554864:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000596745:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000588949:exon4:c.T154A:p.L52M;ENSG00000134769:ENST00000598774:exon3:c.T148A:p.L50M;ENSG00000134769:ENST00000315456:exon4:c.T148A:p.L50M;ENSG00000134769:ENST00000598142:exon3:c.T148A:p.L50M;	2.17619574833117E-5	0.006
18	32346005	T	C	18	34766041	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon4:c.T148C:p.L50L;DTNA:NM_001392:exon4:c.T148C:p.L50L;DTNA:NM_032978:exon3:c.T148C:p.L50L;DTNA:NM_001390:exon2:c.T148C:p.L50L;DTNA:NM_001198938:exon4:c.T148C:p.L50L;DTNA:NM_001198945:exon4:c.T148C:p.L50L;DTNA:NM_001391:exon2:c.T148C:p.L50L;DTNA:NM_001128175:exon4:c.T148C:p.L50L;DTNA:NM_001198940:exon4:c.T148C:p.L50L;DTNA:NM_001198939:exon4:c.T148C:p.L50L;DTNA:NM_001198941:exon3:c.T148C:p.L50L;DTNA:NM_032975:exon4:c.T148C:p.L50L;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.T148C:p.L50L;ENSG00000134769:ENST00000598334:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000590412:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000595022:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000444659:exon2:c.T148C:p.L50L;ENSG00000134769:ENST00000269191:exon2:c.T148C:p.L50L;ENSG00000134769:ENST00000283365:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000399113:exon2:c.T148C:p.L50L;ENSG00000134769:ENST00000269190:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000399121:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000590598:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000597599:exon3:c.T148C:p.L50L;ENSG00000134769:ENST00000554864:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000596745:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000588949:exon4:c.T154C:p.L52L;ENSG00000134769:ENST00000598774:exon3:c.T148C:p.L50L;ENSG00000134769:ENST00000315456:exon4:c.T148C:p.L50L;ENSG00000134769:ENST00000598142:exon3:c.T148C:p.L50L;	1.00397530973091E-4	0.074
18	32346005	T	G	18	34766041	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon4:c.T148G:p.L50V;DTNA:NM_001392:exon4:c.T148G:p.L50V;DTNA:NM_032978:exon3:c.T148G:p.L50V;DTNA:NM_001390:exon2:c.T148G:p.L50V;DTNA:NM_001198938:exon4:c.T148G:p.L50V;DTNA:NM_001198945:exon4:c.T148G:p.L50V;DTNA:NM_001391:exon2:c.T148G:p.L50V;DTNA:NM_001128175:exon4:c.T148G:p.L50V;DTNA:NM_001198940:exon4:c.T148G:p.L50V;DTNA:NM_001198939:exon4:c.T148G:p.L50V;DTNA:NM_001198941:exon3:c.T148G:p.L50V;DTNA:NM_032975:exon4:c.T148G:p.L50V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon3:c.T148G:p.L50V;ENSG00000134769:ENST00000598334:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000590412:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000595022:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000444659:exon2:c.T148G:p.L50V;ENSG00000134769:ENST00000269191:exon2:c.T148G:p.L50V;ENSG00000134769:ENST00000283365:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000399113:exon2:c.T148G:p.L50V;ENSG00000134769:ENST00000269190:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000399121:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000590598:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000597599:exon3:c.T148G:p.L50V;ENSG00000134769:ENST00000554864:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000596745:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000588949:exon4:c.T154G:p.L52V;ENSG00000134769:ENST00000598774:exon3:c.T148G:p.L50V;ENSG00000134769:ENST00000315456:exon4:c.T148G:p.L50V;ENSG00000134769:ENST00000598142:exon3:c.T148G:p.L50V;	1.58545543028383E-4	0.02
18	32346006	G	A	18	34766042	y	y	splicing	DTNA(NM_001198945:exon4:c.148+1G>A;NM_001392:exon4:c.148+1G>A;NM_032975:exon4:c.148+1G>A;NM_032979:exon4:c.148+1G>A;NM_001198940:exon4:c.148+1G>A;NM_001198939:exon4:c.148+1G>A;NM_001198938:exon4:c.148+1G>A;NM_001128175:exon4:c.148+1G>A;NM_001198941:exon3:c.148+1G>A;NM_032978:exon3:c.148+1G>A;NM_001391:exon2:c.148+1G>A;NM_001390:exon2:c.148+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon4:c.148+1G>A;ENST00000596745:exon4:c.148+1G>A;ENST00000315456:exon4:c.148+1G>A;ENST00000590412:exon4:c.148+1G>A;ENST00000590598:exon4:c.148+1G>A;ENST00000598334:exon4:c.148+1G>A;ENST00000399121:exon4:c.148+1G>A;ENST00000554864:exon4:c.148+1G>A;ENST00000269190:exon4:c.148+1G>A;ENST00000595022:exon4:c.148+1G>A;ENST00000598142:exon3:c.148+1G>A;ENST00000598774:exon3:c.148+1G>A;ENST00000348997:exon3:c.148+1G>A;ENST00000597599:exon3:c.148+1G>A;ENST00000588949:exon4:c.154+1G>A;ENST00000269191:exon2:c.148+1G>A;ENST00000444659:exon2:c.148+1G>A;ENST00000399113:exon2:c.148+1G>A)	.	.	0.999986675681007	0.94
18	32346006	G	C	18	34766042	y	y	splicing	DTNA(NM_001198945:exon4:c.148+1G>C;NM_001392:exon4:c.148+1G>C;NM_032975:exon4:c.148+1G>C;NM_032979:exon4:c.148+1G>C;NM_001198940:exon4:c.148+1G>C;NM_001198939:exon4:c.148+1G>C;NM_001198938:exon4:c.148+1G>C;NM_001128175:exon4:c.148+1G>C;NM_001198941:exon3:c.148+1G>C;NM_032978:exon3:c.148+1G>C;NM_001391:exon2:c.148+1G>C;NM_001390:exon2:c.148+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon4:c.148+1G>C;ENST00000596745:exon4:c.148+1G>C;ENST00000315456:exon4:c.148+1G>C;ENST00000590412:exon4:c.148+1G>C;ENST00000590598:exon4:c.148+1G>C;ENST00000598334:exon4:c.148+1G>C;ENST00000399121:exon4:c.148+1G>C;ENST00000554864:exon4:c.148+1G>C;ENST00000269190:exon4:c.148+1G>C;ENST00000595022:exon4:c.148+1G>C;ENST00000598142:exon3:c.148+1G>C;ENST00000598774:exon3:c.148+1G>C;ENST00000348997:exon3:c.148+1G>C;ENST00000597599:exon3:c.148+1G>C;ENST00000588949:exon4:c.154+1G>C;ENST00000269191:exon2:c.148+1G>C;ENST00000444659:exon2:c.148+1G>C;ENST00000399113:exon2:c.148+1G>C)	.	.	0.999976137096505	0.942
18	32346006	G	T	18	34766042	y	y	splicing	DTNA(NM_001198945:exon4:c.148+1G>T;NM_001392:exon4:c.148+1G>T;NM_032975:exon4:c.148+1G>T;NM_032979:exon4:c.148+1G>T;NM_001198940:exon4:c.148+1G>T;NM_001198939:exon4:c.148+1G>T;NM_001198938:exon4:c.148+1G>T;NM_001128175:exon4:c.148+1G>T;NM_001198941:exon3:c.148+1G>T;NM_032978:exon3:c.148+1G>T;NM_001391:exon2:c.148+1G>T;NM_001390:exon2:c.148+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon4:c.148+1G>T;ENST00000596745:exon4:c.148+1G>T;ENST00000315456:exon4:c.148+1G>T;ENST00000590412:exon4:c.148+1G>T;ENST00000590598:exon4:c.148+1G>T;ENST00000598334:exon4:c.148+1G>T;ENST00000399121:exon4:c.148+1G>T;ENST00000554864:exon4:c.148+1G>T;ENST00000269190:exon4:c.148+1G>T;ENST00000595022:exon4:c.148+1G>T;ENST00000598142:exon3:c.148+1G>T;ENST00000598774:exon3:c.148+1G>T;ENST00000348997:exon3:c.148+1G>T;ENST00000597599:exon3:c.148+1G>T;ENST00000588949:exon4:c.154+1G>T;ENST00000269191:exon2:c.148+1G>T;ENST00000444659:exon2:c.148+1G>T;ENST00000399113:exon2:c.148+1G>T)	.	.	0.999976137096505	0.94
18	32346007	T	A	18	34766043	y	y	splicing	DTNA(NM_001198945:exon4:c.148+2T>A;NM_001392:exon4:c.148+2T>A;NM_032975:exon4:c.148+2T>A;NM_032979:exon4:c.148+2T>A;NM_001198940:exon4:c.148+2T>A;NM_001198939:exon4:c.148+2T>A;NM_001198938:exon4:c.148+2T>A;NM_001128175:exon4:c.148+2T>A;NM_001198941:exon3:c.148+2T>A;NM_032978:exon3:c.148+2T>A;NM_001391:exon2:c.148+2T>A;NM_001390:exon2:c.148+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon4:c.148+2T>A;ENST00000596745:exon4:c.148+2T>A;ENST00000315456:exon4:c.148+2T>A;ENST00000590412:exon4:c.148+2T>A;ENST00000590598:exon4:c.148+2T>A;ENST00000598334:exon4:c.148+2T>A;ENST00000399121:exon4:c.148+2T>A;ENST00000554864:exon4:c.148+2T>A;ENST00000269190:exon4:c.148+2T>A;ENST00000595022:exon4:c.148+2T>A;ENST00000598142:exon3:c.148+2T>A;ENST00000598774:exon3:c.148+2T>A;ENST00000348997:exon3:c.148+2T>A;ENST00000597599:exon3:c.148+2T>A;ENST00000588949:exon4:c.154+2T>A;ENST00000269191:exon2:c.148+2T>A;ENST00000444659:exon2:c.148+2T>A;ENST00000399113:exon2:c.148+2T>A)	.	.	0.999966203349492	0.924
18	32346007	T	C	18	34766043	y	y	splicing	DTNA(NM_001198945:exon4:c.148+2T>C;NM_001392:exon4:c.148+2T>C;NM_032975:exon4:c.148+2T>C;NM_032979:exon4:c.148+2T>C;NM_001198940:exon4:c.148+2T>C;NM_001198939:exon4:c.148+2T>C;NM_001198938:exon4:c.148+2T>C;NM_001128175:exon4:c.148+2T>C;NM_001198941:exon3:c.148+2T>C;NM_032978:exon3:c.148+2T>C;NM_001391:exon2:c.148+2T>C;NM_001390:exon2:c.148+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon4:c.148+2T>C;ENST00000596745:exon4:c.148+2T>C;ENST00000315456:exon4:c.148+2T>C;ENST00000590412:exon4:c.148+2T>C;ENST00000590598:exon4:c.148+2T>C;ENST00000598334:exon4:c.148+2T>C;ENST00000399121:exon4:c.148+2T>C;ENST00000554864:exon4:c.148+2T>C;ENST00000269190:exon4:c.148+2T>C;ENST00000595022:exon4:c.148+2T>C;ENST00000598142:exon3:c.148+2T>C;ENST00000598774:exon3:c.148+2T>C;ENST00000348997:exon3:c.148+2T>C;ENST00000597599:exon3:c.148+2T>C;ENST00000588949:exon4:c.154+2T>C;ENST00000269191:exon2:c.148+2T>C;ENST00000444659:exon2:c.148+2T>C;ENST00000399113:exon2:c.148+2T>C)	.	.	0.986512175407759	0.642
18	32346007	T	G	18	34766043	y	y	splicing	DTNA(NM_001198945:exon4:c.148+2T>G;NM_001392:exon4:c.148+2T>G;NM_032975:exon4:c.148+2T>G;NM_032979:exon4:c.148+2T>G;NM_001198940:exon4:c.148+2T>G;NM_001198939:exon4:c.148+2T>G;NM_001198938:exon4:c.148+2T>G;NM_001128175:exon4:c.148+2T>G;NM_001198941:exon3:c.148+2T>G;NM_032978:exon3:c.148+2T>G;NM_001391:exon2:c.148+2T>G;NM_001390:exon2:c.148+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon4:c.148+2T>G;ENST00000596745:exon4:c.148+2T>G;ENST00000315456:exon4:c.148+2T>G;ENST00000590412:exon4:c.148+2T>G;ENST00000590598:exon4:c.148+2T>G;ENST00000598334:exon4:c.148+2T>G;ENST00000399121:exon4:c.148+2T>G;ENST00000554864:exon4:c.148+2T>G;ENST00000269190:exon4:c.148+2T>G;ENST00000595022:exon4:c.148+2T>G;ENST00000598142:exon3:c.148+2T>G;ENST00000598774:exon3:c.148+2T>G;ENST00000348997:exon3:c.148+2T>G;ENST00000597599:exon3:c.148+2T>G;ENST00000588949:exon4:c.154+2T>G;ENST00000269191:exon2:c.148+2T>G;ENST00000444659:exon2:c.148+2T>G;ENST00000399113:exon2:c.148+2T>G)	.	.	0.999966203349492	0.928
18	32346008	A	C	18	34766044	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999064219166282	0.776
18	32346008	A	G	18	34766044	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.97321811489063E-4	0.02
18	32346008	A	T	18	34766044	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999174484192812	0.786
18	32346009	A	C	18	34766045	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.951938618027186	0.7
18	32346009	A	G	18	34766045	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.917986689021844	0.878
18	32346009	A	T	18	34766045	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.965121486953208	0.8
18	32346010	G	A	18	34766046	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999971312246628	0.992
18	32346010	G	C	18	34766046	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.999995389614653	0.968
18	32346010	G	T	18	34766046	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.99997289121893	0.978
18	32346011	T	A	18	34766047	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.925900106681989	0.638
18	32346011	T	C	18	34766047	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.944640690512464	0.706
18	32346011	T	G	18	34766047	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	0.946504152199953	0.73
18	32346012	A	C	18	34766048	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.01174165683835E-5	0.0
18	32346012	A	G	18	34766048	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	1.01174165683835E-5	0.002
18	32346012	A	T	18	34766048	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	2.66788996267205E-5	0.0
18	32346013	T	A	18	34766049	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.00613123083814E-5	0.0
18	32346013	T	C	18	34766049	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	2.44944725075161E-5	0.0
18	32346013	T	G	18	34766049	y	y	intronic	DTNA	.	.	ncRNA_intronic	ENSG00000268873	.	.	3.22155479052501E-5	0.0
18	32373989	C	A	18	34794025	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.6717208966877E-4	0.046
18	32373989	C	G	18	34794025	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.50634286118502E-4	0.068
18	32373989	C	T	18	34794025	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.26711274272704E-5	0.0
18	32373990	T	A	18	34794026	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999596653416001	0.956
18	32373990	T	C	18	34794026	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99129300787308	0.714
18	32373990	T	G	18	34794026	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998969438317765	0.914
18	32373991	T	A	18	34794027	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.795562727953824	0.668
18	32373991	T	C	18	34794027	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0344496706044014	0.196
18	32373991	T	G	18	34794027	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.962994285013514	0.768
18	32373992	T	A	18	34794028	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.959904234621901	0.756
18	32373992	T	C	18	34794028	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0036493298211564	0.086
18	32373992	T	G	18	34794028	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.963589872144206	0.722
18	32373993	A	C	18	34794029	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.16533649699763E-5	0.0
18	32373993	A	G	18	34794029	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.48036787390076E-5	0.008
18	32373993	A	T	18	34794029	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.32609093453003E-5	0.006
18	32373994	A	C	18	34794030	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.04534463384281E-5	0.0
18	32373994	A	G	18	34794030	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997758416902008	0.98
18	32373994	A	T	18	34794030	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.94447652440795E-5	0.004
18	32373995	T	A	18	34794031	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0675511038755363	0.32
18	32373995	T	C	18	34794031	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.99475770582152E-4	0.012
18	32373995	T	G	18	34794031	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999946470257497	0.976
18	32373996	T	A	18	34794032	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999713333163426	0.946
18	32373996	T	C	18	34794032	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.1723668082411E-4	0.026
18	32373996	T	G	18	34794032	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.611917984016851	0.426
18	32373997	G	A	18	34794033	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.35545313923709E-5	0.008
18	32373997	G	C	18	34794033	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.4191404304149E-5	0.004
18	32373997	G	T	18	34794033	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.53156232868484E-5	0.008
18	32373998	T	A	18	34794034	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0236121494176637	0.276
18	32373998	T	C	18	34794034	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.71575533962769E-5	0.0
18	32373998	T	G	18	34794034	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.923851209295983	0.654
18	32373999	A	C	18	34794035	y	y	splicing	DTNA(NM_001198945:exon5:c.149-2A>C;NM_001392:exon5:c.149-2A>C;NM_032975:exon5:c.149-2A>C;NM_032979:exon5:c.149-2A>C;NM_001198940:exon5:c.149-2A>C;NM_001198939:exon5:c.149-2A>C;NM_001198938:exon5:c.149-2A>C;NM_001128175:exon5:c.149-2A>C;NM_001198941:exon4:c.149-2A>C;NM_032978:exon4:c.149-2A>C;NM_001391:exon3:c.149-2A>C;NM_001390:exon3:c.149-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.149-2A>C;ENST00000596745:exon5:c.149-2A>C;ENST00000315456:exon5:c.149-2A>C;ENST00000590412:exon5:c.149-2A>C;ENST00000590598:exon5:c.149-2A>C;ENST00000598334:exon5:c.149-2A>C;ENST00000399121:exon5:c.149-2A>C;ENST00000554864:exon5:c.149-2A>C;ENST00000269190:exon5:c.149-2A>C;ENST00000595022:exon5:c.149-2A>C;ENST00000598142:exon4:c.149-2A>C;ENST00000598774:exon4:c.149-2A>C;ENST00000348997:exon4:c.149-2A>C;ENST00000597599:exon4:c.149-2A>C;ENST00000588949:exon5:c.155-2A>C;ENST00000269191:exon3:c.149-2A>C;ENST00000444659:exon3:c.149-2A>C;ENST00000399113:exon3:c.149-2A>C)	.	.	0.999988247793601	0.936
18	32373999	A	G	18	34794035	y	y	splicing	DTNA(NM_001198945:exon5:c.149-2A>G;NM_001392:exon5:c.149-2A>G;NM_032975:exon5:c.149-2A>G;NM_032979:exon5:c.149-2A>G;NM_001198940:exon5:c.149-2A>G;NM_001198939:exon5:c.149-2A>G;NM_001198938:exon5:c.149-2A>G;NM_001128175:exon5:c.149-2A>G;NM_001198941:exon4:c.149-2A>G;NM_032978:exon4:c.149-2A>G;NM_001391:exon3:c.149-2A>G;NM_001390:exon3:c.149-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.149-2A>G;ENST00000596745:exon5:c.149-2A>G;ENST00000315456:exon5:c.149-2A>G;ENST00000590412:exon5:c.149-2A>G;ENST00000590598:exon5:c.149-2A>G;ENST00000598334:exon5:c.149-2A>G;ENST00000399121:exon5:c.149-2A>G;ENST00000554864:exon5:c.149-2A>G;ENST00000269190:exon5:c.149-2A>G;ENST00000595022:exon5:c.149-2A>G;ENST00000598142:exon4:c.149-2A>G;ENST00000598774:exon4:c.149-2A>G;ENST00000348997:exon4:c.149-2A>G;ENST00000597599:exon4:c.149-2A>G;ENST00000588949:exon5:c.155-2A>G;ENST00000269191:exon3:c.149-2A>G;ENST00000444659:exon3:c.149-2A>G;ENST00000399113:exon3:c.149-2A>G)	.	.	0.999988247793601	0.936
18	32373999	A	T	18	34794035	y	y	splicing	DTNA(NM_001198945:exon5:c.149-2A>T;NM_001392:exon5:c.149-2A>T;NM_032975:exon5:c.149-2A>T;NM_032979:exon5:c.149-2A>T;NM_001198940:exon5:c.149-2A>T;NM_001198939:exon5:c.149-2A>T;NM_001198938:exon5:c.149-2A>T;NM_001128175:exon5:c.149-2A>T;NM_001198941:exon4:c.149-2A>T;NM_032978:exon4:c.149-2A>T;NM_001391:exon3:c.149-2A>T;NM_001390:exon3:c.149-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.149-2A>T;ENST00000596745:exon5:c.149-2A>T;ENST00000315456:exon5:c.149-2A>T;ENST00000590412:exon5:c.149-2A>T;ENST00000590598:exon5:c.149-2A>T;ENST00000598334:exon5:c.149-2A>T;ENST00000399121:exon5:c.149-2A>T;ENST00000554864:exon5:c.149-2A>T;ENST00000269190:exon5:c.149-2A>T;ENST00000595022:exon5:c.149-2A>T;ENST00000598142:exon4:c.149-2A>T;ENST00000598774:exon4:c.149-2A>T;ENST00000348997:exon4:c.149-2A>T;ENST00000597599:exon4:c.149-2A>T;ENST00000588949:exon5:c.155-2A>T;ENST00000269191:exon3:c.149-2A>T;ENST00000444659:exon3:c.149-2A>T;ENST00000399113:exon3:c.149-2A>T)	.	.	0.999988247793601	0.936
18	32374000	G	A	18	34794036	y	y	splicing	DTNA(NM_001198945:exon5:c.149-1G>A;NM_001392:exon5:c.149-1G>A;NM_032975:exon5:c.149-1G>A;NM_032979:exon5:c.149-1G>A;NM_001198940:exon5:c.149-1G>A;NM_001198939:exon5:c.149-1G>A;NM_001198938:exon5:c.149-1G>A;NM_001128175:exon5:c.149-1G>A;NM_001198941:exon4:c.149-1G>A;NM_032978:exon4:c.149-1G>A;NM_001391:exon3:c.149-1G>A;NM_001390:exon3:c.149-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.149-1G>A;ENST00000596745:exon5:c.149-1G>A;ENST00000315456:exon5:c.149-1G>A;ENST00000590412:exon5:c.149-1G>A;ENST00000590598:exon5:c.149-1G>A;ENST00000598334:exon5:c.149-1G>A;ENST00000399121:exon5:c.149-1G>A;ENST00000554864:exon5:c.149-1G>A;ENST00000269190:exon5:c.149-1G>A;ENST00000595022:exon5:c.149-1G>A;ENST00000598142:exon4:c.149-1G>A;ENST00000598774:exon4:c.149-1G>A;ENST00000348997:exon4:c.149-1G>A;ENST00000597599:exon4:c.149-1G>A;ENST00000588949:exon5:c.155-1G>A;ENST00000269191:exon3:c.149-1G>A;ENST00000444659:exon3:c.149-1G>A;ENST00000399113:exon3:c.149-1G>A)	.	.	0.999989072007339	0.938
18	32374000	G	C	18	34794036	y	y	splicing	DTNA(NM_001198945:exon5:c.149-1G>C;NM_001392:exon5:c.149-1G>C;NM_032975:exon5:c.149-1G>C;NM_032979:exon5:c.149-1G>C;NM_001198940:exon5:c.149-1G>C;NM_001198939:exon5:c.149-1G>C;NM_001198938:exon5:c.149-1G>C;NM_001128175:exon5:c.149-1G>C;NM_001198941:exon4:c.149-1G>C;NM_032978:exon4:c.149-1G>C;NM_001391:exon3:c.149-1G>C;NM_001390:exon3:c.149-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.149-1G>C;ENST00000596745:exon5:c.149-1G>C;ENST00000315456:exon5:c.149-1G>C;ENST00000590412:exon5:c.149-1G>C;ENST00000590598:exon5:c.149-1G>C;ENST00000598334:exon5:c.149-1G>C;ENST00000399121:exon5:c.149-1G>C;ENST00000554864:exon5:c.149-1G>C;ENST00000269190:exon5:c.149-1G>C;ENST00000595022:exon5:c.149-1G>C;ENST00000598142:exon4:c.149-1G>C;ENST00000598774:exon4:c.149-1G>C;ENST00000348997:exon4:c.149-1G>C;ENST00000597599:exon4:c.149-1G>C;ENST00000588949:exon5:c.155-1G>C;ENST00000269191:exon3:c.149-1G>C;ENST00000444659:exon3:c.149-1G>C;ENST00000399113:exon3:c.149-1G>C)	.	.	0.999989072007339	0.938
18	32374000	G	T	18	34794036	y	y	splicing	DTNA(NM_001198945:exon5:c.149-1G>T;NM_001392:exon5:c.149-1G>T;NM_032975:exon5:c.149-1G>T;NM_032979:exon5:c.149-1G>T;NM_001198940:exon5:c.149-1G>T;NM_001198939:exon5:c.149-1G>T;NM_001198938:exon5:c.149-1G>T;NM_001128175:exon5:c.149-1G>T;NM_001198941:exon4:c.149-1G>T;NM_032978:exon4:c.149-1G>T;NM_001391:exon3:c.149-1G>T;NM_001390:exon3:c.149-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.149-1G>T;ENST00000596745:exon5:c.149-1G>T;ENST00000315456:exon5:c.149-1G>T;ENST00000590412:exon5:c.149-1G>T;ENST00000590598:exon5:c.149-1G>T;ENST00000598334:exon5:c.149-1G>T;ENST00000399121:exon5:c.149-1G>T;ENST00000554864:exon5:c.149-1G>T;ENST00000269190:exon5:c.149-1G>T;ENST00000595022:exon5:c.149-1G>T;ENST00000598142:exon4:c.149-1G>T;ENST00000598774:exon4:c.149-1G>T;ENST00000348997:exon4:c.149-1G>T;ENST00000597599:exon4:c.149-1G>T;ENST00000588949:exon5:c.155-1G>T;ENST00000269191:exon3:c.149-1G>T;ENST00000444659:exon3:c.149-1G>T;ENST00000399113:exon3:c.149-1G>T)	.	.	0.999989072007339	0.938
18	32374001	T	A	18	34794037	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon5:c.T149A:p.L50X;DTNA:NM_001392:exon5:c.T149A:p.L50X;DTNA:NM_032978:exon4:c.T149A:p.L50X;DTNA:NM_001390:exon3:c.T149A:p.L50X;DTNA:NM_001198938:exon5:c.T149A:p.L50X;DTNA:NM_001198945:exon5:c.T149A:p.L50X;DTNA:NM_001391:exon3:c.T149A:p.L50X;DTNA:NM_001128175:exon5:c.T149A:p.L50X;DTNA:NM_001198940:exon5:c.T149A:p.L50X;DTNA:NM_001198939:exon5:c.T149A:p.L50X;DTNA:NM_001198941:exon4:c.T149A:p.L50X;DTNA:NM_032975:exon5:c.T149A:p.L50X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon4:c.T149A:p.L50X;ENSG00000134769:ENST00000598334:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000590412:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000595022:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000444659:exon3:c.T149A:p.L50X;ENSG00000134769:ENST00000269191:exon3:c.T149A:p.L50X;ENSG00000134769:ENST00000283365:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000399113:exon3:c.T149A:p.L50X;ENSG00000134769:ENST00000269190:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000399121:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000590598:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000597599:exon4:c.T149A:p.L50X;ENSG00000134769:ENST00000554864:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000596745:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000588949:exon5:c.T155A:p.L52X;ENSG00000134769:ENST00000598774:exon4:c.T149A:p.L50X;ENSG00000134769:ENST00000315456:exon5:c.T149A:p.L50X;ENSG00000134769:ENST00000598142:exon4:c.T149A:p.L50X;	0.642655445294602	0.642
18	32374001	T	C	18	34794037	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.T149C:p.L50S;DTNA:NM_001392:exon5:c.T149C:p.L50S;DTNA:NM_032978:exon4:c.T149C:p.L50S;DTNA:NM_001390:exon3:c.T149C:p.L50S;DTNA:NM_001198938:exon5:c.T149C:p.L50S;DTNA:NM_001198945:exon5:c.T149C:p.L50S;DTNA:NM_001391:exon3:c.T149C:p.L50S;DTNA:NM_001128175:exon5:c.T149C:p.L50S;DTNA:NM_001198940:exon5:c.T149C:p.L50S;DTNA:NM_001198939:exon5:c.T149C:p.L50S;DTNA:NM_001198941:exon4:c.T149C:p.L50S;DTNA:NM_032975:exon5:c.T149C:p.L50S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.T149C:p.L50S;ENSG00000134769:ENST00000598334:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000590412:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000595022:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000444659:exon3:c.T149C:p.L50S;ENSG00000134769:ENST00000269191:exon3:c.T149C:p.L50S;ENSG00000134769:ENST00000283365:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000399113:exon3:c.T149C:p.L50S;ENSG00000134769:ENST00000269190:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000399121:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000590598:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000597599:exon4:c.T149C:p.L50S;ENSG00000134769:ENST00000554864:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000596745:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000588949:exon5:c.T155C:p.L52S;ENSG00000134769:ENST00000598774:exon4:c.T149C:p.L50S;ENSG00000134769:ENST00000315456:exon5:c.T149C:p.L50S;ENSG00000134769:ENST00000598142:exon4:c.T149C:p.L50S;	0.839952709944291	0.674
18	32374001	T	G	18	34794037	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.T149G:p.L50W;DTNA:NM_001392:exon5:c.T149G:p.L50W;DTNA:NM_032978:exon4:c.T149G:p.L50W;DTNA:NM_001390:exon3:c.T149G:p.L50W;DTNA:NM_001198938:exon5:c.T149G:p.L50W;DTNA:NM_001198945:exon5:c.T149G:p.L50W;DTNA:NM_001391:exon3:c.T149G:p.L50W;DTNA:NM_001128175:exon5:c.T149G:p.L50W;DTNA:NM_001198940:exon5:c.T149G:p.L50W;DTNA:NM_001198939:exon5:c.T149G:p.L50W;DTNA:NM_001198941:exon4:c.T149G:p.L50W;DTNA:NM_032975:exon5:c.T149G:p.L50W;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.T149G:p.L50W;ENSG00000134769:ENST00000598334:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000590412:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000595022:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000444659:exon3:c.T149G:p.L50W;ENSG00000134769:ENST00000269191:exon3:c.T149G:p.L50W;ENSG00000134769:ENST00000283365:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000399113:exon3:c.T149G:p.L50W;ENSG00000134769:ENST00000269190:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000399121:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000590598:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000597599:exon4:c.T149G:p.L50W;ENSG00000134769:ENST00000554864:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000596745:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000588949:exon5:c.T155G:p.L52W;ENSG00000134769:ENST00000598774:exon4:c.T149G:p.L50W;ENSG00000134769:ENST00000315456:exon5:c.T149G:p.L50W;ENSG00000134769:ENST00000598142:exon4:c.T149G:p.L50W;	0.687654481802772	0.548
18	32374002	G	A	18	34794038	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon5:c.G150A:p.L50L;DTNA:NM_001392:exon5:c.G150A:p.L50L;DTNA:NM_032978:exon4:c.G150A:p.L50L;DTNA:NM_001390:exon3:c.G150A:p.L50L;DTNA:NM_001198938:exon5:c.G150A:p.L50L;DTNA:NM_001198945:exon5:c.G150A:p.L50L;DTNA:NM_001391:exon3:c.G150A:p.L50L;DTNA:NM_001128175:exon5:c.G150A:p.L50L;DTNA:NM_001198940:exon5:c.G150A:p.L50L;DTNA:NM_001198939:exon5:c.G150A:p.L50L;DTNA:NM_001198941:exon4:c.G150A:p.L50L;DTNA:NM_032975:exon5:c.G150A:p.L50L;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.G150A:p.L50L;ENSG00000134769:ENST00000598334:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000590412:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000595022:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000444659:exon3:c.G150A:p.L50L;ENSG00000134769:ENST00000269191:exon3:c.G150A:p.L50L;ENSG00000134769:ENST00000283365:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000399113:exon3:c.G150A:p.L50L;ENSG00000134769:ENST00000269190:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000399121:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000590598:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000597599:exon4:c.G150A:p.L50L;ENSG00000134769:ENST00000554864:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000596745:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000588949:exon5:c.G156A:p.L52L;ENSG00000134769:ENST00000598774:exon4:c.G150A:p.L50L;ENSG00000134769:ENST00000315456:exon5:c.G150A:p.L50L;ENSG00000134769:ENST00000598142:exon4:c.G150A:p.L50L;	0.0027010809497438	0.226
18	32374002	G	C	18	34794038	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.G150C:p.L50F;DTNA:NM_001392:exon5:c.G150C:p.L50F;DTNA:NM_032978:exon4:c.G150C:p.L50F;DTNA:NM_001390:exon3:c.G150C:p.L50F;DTNA:NM_001198938:exon5:c.G150C:p.L50F;DTNA:NM_001198945:exon5:c.G150C:p.L50F;DTNA:NM_001391:exon3:c.G150C:p.L50F;DTNA:NM_001128175:exon5:c.G150C:p.L50F;DTNA:NM_001198940:exon5:c.G150C:p.L50F;DTNA:NM_001198939:exon5:c.G150C:p.L50F;DTNA:NM_001198941:exon4:c.G150C:p.L50F;DTNA:NM_032975:exon5:c.G150C:p.L50F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.G150C:p.L50F;ENSG00000134769:ENST00000598334:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000590412:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000595022:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000444659:exon3:c.G150C:p.L50F;ENSG00000134769:ENST00000269191:exon3:c.G150C:p.L50F;ENSG00000134769:ENST00000283365:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000399113:exon3:c.G150C:p.L50F;ENSG00000134769:ENST00000269190:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000399121:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000590598:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000597599:exon4:c.G150C:p.L50F;ENSG00000134769:ENST00000554864:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000596745:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000588949:exon5:c.G156C:p.L52F;ENSG00000134769:ENST00000598774:exon4:c.G150C:p.L50F;ENSG00000134769:ENST00000315456:exon5:c.G150C:p.L50F;ENSG00000134769:ENST00000598142:exon4:c.G150C:p.L50F;	0.138242739200904	0.46
18	32374002	G	T	18	34794038	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.G150T:p.L50F;DTNA:NM_001392:exon5:c.G150T:p.L50F;DTNA:NM_032978:exon4:c.G150T:p.L50F;DTNA:NM_001390:exon3:c.G150T:p.L50F;DTNA:NM_001198938:exon5:c.G150T:p.L50F;DTNA:NM_001198945:exon5:c.G150T:p.L50F;DTNA:NM_001391:exon3:c.G150T:p.L50F;DTNA:NM_001128175:exon5:c.G150T:p.L50F;DTNA:NM_001198940:exon5:c.G150T:p.L50F;DTNA:NM_001198939:exon5:c.G150T:p.L50F;DTNA:NM_001198941:exon4:c.G150T:p.L50F;DTNA:NM_032975:exon5:c.G150T:p.L50F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.G150T:p.L50F;ENSG00000134769:ENST00000598334:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000590412:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000595022:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000444659:exon3:c.G150T:p.L50F;ENSG00000134769:ENST00000269191:exon3:c.G150T:p.L50F;ENSG00000134769:ENST00000283365:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000399113:exon3:c.G150T:p.L50F;ENSG00000134769:ENST00000269190:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000399121:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000590598:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000597599:exon4:c.G150T:p.L50F;ENSG00000134769:ENST00000554864:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000596745:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000588949:exon5:c.G156T:p.L52F;ENSG00000134769:ENST00000598774:exon4:c.G150T:p.L50F;ENSG00000134769:ENST00000315456:exon5:c.G150T:p.L50F;ENSG00000134769:ENST00000598142:exon4:c.G150T:p.L50F;	0.237964207283391	0.416
18	32374212	T	A	18	34794248	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.T360A:p.D120E;DTNA:NM_001392:exon5:c.T360A:p.D120E;DTNA:NM_032978:exon4:c.T360A:p.D120E;DTNA:NM_001390:exon3:c.T360A:p.D120E;DTNA:NM_001198938:exon5:c.T360A:p.D120E;DTNA:NM_001198945:exon5:c.T360A:p.D120E;DTNA:NM_001391:exon3:c.T360A:p.D120E;DTNA:NM_001128175:exon5:c.T360A:p.D120E;DTNA:NM_001198940:exon5:c.T360A:p.D120E;DTNA:NM_001198939:exon5:c.T360A:p.D120E;DTNA:NM_001198941:exon4:c.T360A:p.D120E;DTNA:NM_032975:exon5:c.T360A:p.D120E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.T360A:p.D120E;ENSG00000134769:ENST00000598334:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000595022:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000444659:exon3:c.T360A:p.D120E;ENSG00000134769:ENST00000269191:exon3:c.T360A:p.D120E;ENSG00000134769:ENST00000283365:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000399113:exon3:c.T360A:p.D120E;ENSG00000134769:ENST00000269190:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000399121:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000590598:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000597599:exon4:c.T360A:p.D120E;ENSG00000134769:ENST00000554864:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000596745:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000598774:exon4:c.T360A:p.D120E;ENSG00000134769:ENST00000315456:exon5:c.T360A:p.D120E;ENSG00000134769:ENST00000598142:exon4:c.T360A:p.D120E;	2.10008079320121E-5	0.092
18	32374212	T	C	18	34794248	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon5:c.T360C:p.D120D;DTNA:NM_001392:exon5:c.T360C:p.D120D;DTNA:NM_032978:exon4:c.T360C:p.D120D;DTNA:NM_001390:exon3:c.T360C:p.D120D;DTNA:NM_001198938:exon5:c.T360C:p.D120D;DTNA:NM_001198945:exon5:c.T360C:p.D120D;DTNA:NM_001391:exon3:c.T360C:p.D120D;DTNA:NM_001128175:exon5:c.T360C:p.D120D;DTNA:NM_001198940:exon5:c.T360C:p.D120D;DTNA:NM_001198939:exon5:c.T360C:p.D120D;DTNA:NM_001198941:exon4:c.T360C:p.D120D;DTNA:NM_032975:exon5:c.T360C:p.D120D;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.T360C:p.D120D;ENSG00000134769:ENST00000598334:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000595022:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000444659:exon3:c.T360C:p.D120D;ENSG00000134769:ENST00000269191:exon3:c.T360C:p.D120D;ENSG00000134769:ENST00000283365:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000399113:exon3:c.T360C:p.D120D;ENSG00000134769:ENST00000269190:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000399121:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000590598:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000597599:exon4:c.T360C:p.D120D;ENSG00000134769:ENST00000554864:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000596745:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000598774:exon4:c.T360C:p.D120D;ENSG00000134769:ENST00000315456:exon5:c.T360C:p.D120D;ENSG00000134769:ENST00000598142:exon4:c.T360C:p.D120D;	1.00581034739381E-4	0.05
18	32374212	T	G	18	34794248	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.T360G:p.D120E;DTNA:NM_001392:exon5:c.T360G:p.D120E;DTNA:NM_032978:exon4:c.T360G:p.D120E;DTNA:NM_001390:exon3:c.T360G:p.D120E;DTNA:NM_001198938:exon5:c.T360G:p.D120E;DTNA:NM_001198945:exon5:c.T360G:p.D120E;DTNA:NM_001391:exon3:c.T360G:p.D120E;DTNA:NM_001128175:exon5:c.T360G:p.D120E;DTNA:NM_001198940:exon5:c.T360G:p.D120E;DTNA:NM_001198939:exon5:c.T360G:p.D120E;DTNA:NM_001198941:exon4:c.T360G:p.D120E;DTNA:NM_032975:exon5:c.T360G:p.D120E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.T360G:p.D120E;ENSG00000134769:ENST00000598334:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000595022:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000444659:exon3:c.T360G:p.D120E;ENSG00000134769:ENST00000269191:exon3:c.T360G:p.D120E;ENSG00000134769:ENST00000283365:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000399113:exon3:c.T360G:p.D120E;ENSG00000134769:ENST00000269190:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000399121:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000590598:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000597599:exon4:c.T360G:p.D120E;ENSG00000134769:ENST00000554864:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000596745:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000598774:exon4:c.T360G:p.D120E;ENSG00000134769:ENST00000315456:exon5:c.T360G:p.D120E;ENSG00000134769:ENST00000598142:exon4:c.T360G:p.D120E;	4.58577220252019E-5	0.054
18	32374213	C	A	18	34794249	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.C361A:p.P121T;DTNA:NM_001392:exon5:c.C361A:p.P121T;DTNA:NM_032978:exon4:c.C361A:p.P121T;DTNA:NM_001390:exon3:c.C361A:p.P121T;DTNA:NM_001198938:exon5:c.C361A:p.P121T;DTNA:NM_001198945:exon5:c.C361A:p.P121T;DTNA:NM_001391:exon3:c.C361A:p.P121T;DTNA:NM_001128175:exon5:c.C361A:p.P121T;DTNA:NM_001198940:exon5:c.C361A:p.P121T;DTNA:NM_001198939:exon5:c.C361A:p.P121T;DTNA:NM_001198941:exon4:c.C361A:p.P121T;DTNA:NM_032975:exon5:c.C361A:p.P121T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.C361A:p.P121T;ENSG00000134769:ENST00000598334:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000595022:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000444659:exon3:c.C361A:p.P121T;ENSG00000134769:ENST00000269191:exon3:c.C361A:p.P121T;ENSG00000134769:ENST00000283365:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000399113:exon3:c.C361A:p.P121T;ENSG00000134769:ENST00000269190:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000399121:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000590598:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000597599:exon4:c.C361A:p.P121T;ENSG00000134769:ENST00000554864:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000596745:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000598774:exon4:c.C361A:p.P121T;ENSG00000134769:ENST00000315456:exon5:c.C361A:p.P121T;ENSG00000134769:ENST00000598142:exon4:c.C361A:p.P121T;	0.00275406637078448	0.148
18	32374213	C	G	18	34794249	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.C361G:p.P121A;DTNA:NM_001392:exon5:c.C361G:p.P121A;DTNA:NM_032978:exon4:c.C361G:p.P121A;DTNA:NM_001390:exon3:c.C361G:p.P121A;DTNA:NM_001198938:exon5:c.C361G:p.P121A;DTNA:NM_001198945:exon5:c.C361G:p.P121A;DTNA:NM_001391:exon3:c.C361G:p.P121A;DTNA:NM_001128175:exon5:c.C361G:p.P121A;DTNA:NM_001198940:exon5:c.C361G:p.P121A;DTNA:NM_001198939:exon5:c.C361G:p.P121A;DTNA:NM_001198941:exon4:c.C361G:p.P121A;DTNA:NM_032975:exon5:c.C361G:p.P121A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.C361G:p.P121A;ENSG00000134769:ENST00000598334:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000595022:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000444659:exon3:c.C361G:p.P121A;ENSG00000134769:ENST00000269191:exon3:c.C361G:p.P121A;ENSG00000134769:ENST00000283365:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000399113:exon3:c.C361G:p.P121A;ENSG00000134769:ENST00000269190:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000399121:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000590598:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000597599:exon4:c.C361G:p.P121A;ENSG00000134769:ENST00000554864:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000596745:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000598774:exon4:c.C361G:p.P121A;ENSG00000134769:ENST00000315456:exon5:c.C361G:p.P121A;ENSG00000134769:ENST00000598142:exon4:c.C361G:p.P121A;	0.00681034685686268	0.102
18	32374213	C	T	18	34794249	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.C361T:p.P121S;DTNA:NM_001392:exon5:c.C361T:p.P121S;DTNA:NM_032978:exon4:c.C361T:p.P121S;DTNA:NM_001390:exon3:c.C361T:p.P121S;DTNA:NM_001198938:exon5:c.C361T:p.P121S;DTNA:NM_001198945:exon5:c.C361T:p.P121S;DTNA:NM_001391:exon3:c.C361T:p.P121S;DTNA:NM_001128175:exon5:c.C361T:p.P121S;DTNA:NM_001198940:exon5:c.C361T:p.P121S;DTNA:NM_001198939:exon5:c.C361T:p.P121S;DTNA:NM_001198941:exon4:c.C361T:p.P121S;DTNA:NM_032975:exon5:c.C361T:p.P121S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.C361T:p.P121S;ENSG00000134769:ENST00000598334:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000595022:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000444659:exon3:c.C361T:p.P121S;ENSG00000134769:ENST00000269191:exon3:c.C361T:p.P121S;ENSG00000134769:ENST00000283365:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000399113:exon3:c.C361T:p.P121S;ENSG00000134769:ENST00000269190:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000399121:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000590598:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000597599:exon4:c.C361T:p.P121S;ENSG00000134769:ENST00000554864:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000596745:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000598774:exon4:c.C361T:p.P121S;ENSG00000134769:ENST00000315456:exon5:c.C361T:p.P121S;ENSG00000134769:ENST00000598142:exon4:c.C361T:p.P121S;	6.73254271687963E-4	0.066
18	32374214	C	A	18	34794250	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.C362A:p.P121Q;DTNA:NM_001392:exon5:c.C362A:p.P121Q;DTNA:NM_032978:exon4:c.C362A:p.P121Q;DTNA:NM_001390:exon3:c.C362A:p.P121Q;DTNA:NM_001198938:exon5:c.C362A:p.P121Q;DTNA:NM_001198945:exon5:c.C362A:p.P121Q;DTNA:NM_001391:exon3:c.C362A:p.P121Q;DTNA:NM_001128175:exon5:c.C362A:p.P121Q;DTNA:NM_001198940:exon5:c.C362A:p.P121Q;DTNA:NM_001198939:exon5:c.C362A:p.P121Q;DTNA:NM_001198941:exon4:c.C362A:p.P121Q;DTNA:NM_032975:exon5:c.C362A:p.P121Q;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.C362A:p.P121Q;ENSG00000134769:ENST00000598334:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000595022:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000444659:exon3:c.C362A:p.P121Q;ENSG00000134769:ENST00000269191:exon3:c.C362A:p.P121Q;ENSG00000134769:ENST00000283365:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000399113:exon3:c.C362A:p.P121Q;ENSG00000134769:ENST00000269190:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000399121:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000590598:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000597599:exon4:c.C362A:p.P121Q;ENSG00000134769:ENST00000554864:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000596745:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000598774:exon4:c.C362A:p.P121Q;ENSG00000134769:ENST00000315456:exon5:c.C362A:p.P121Q;ENSG00000134769:ENST00000598142:exon4:c.C362A:p.P121Q;	0.00566227301810901	0.194
18	32374214	C	G	18	34794250	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.C362G:p.P121R;DTNA:NM_001392:exon5:c.C362G:p.P121R;DTNA:NM_032978:exon4:c.C362G:p.P121R;DTNA:NM_001390:exon3:c.C362G:p.P121R;DTNA:NM_001198938:exon5:c.C362G:p.P121R;DTNA:NM_001198945:exon5:c.C362G:p.P121R;DTNA:NM_001391:exon3:c.C362G:p.P121R;DTNA:NM_001128175:exon5:c.C362G:p.P121R;DTNA:NM_001198940:exon5:c.C362G:p.P121R;DTNA:NM_001198939:exon5:c.C362G:p.P121R;DTNA:NM_001198941:exon4:c.C362G:p.P121R;DTNA:NM_032975:exon5:c.C362G:p.P121R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.C362G:p.P121R;ENSG00000134769:ENST00000598334:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000595022:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000444659:exon3:c.C362G:p.P121R;ENSG00000134769:ENST00000269191:exon3:c.C362G:p.P121R;ENSG00000134769:ENST00000283365:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000399113:exon3:c.C362G:p.P121R;ENSG00000134769:ENST00000269190:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000399121:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000590598:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000597599:exon4:c.C362G:p.P121R;ENSG00000134769:ENST00000554864:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000596745:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000598774:exon4:c.C362G:p.P121R;ENSG00000134769:ENST00000315456:exon5:c.C362G:p.P121R;ENSG00000134769:ENST00000598142:exon4:c.C362G:p.P121R;	5.45118381542097E-4	0.118
18	32374214	C	T	18	34794250	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon5:c.C362T:p.P121L;DTNA:NM_001392:exon5:c.C362T:p.P121L;DTNA:NM_032978:exon4:c.C362T:p.P121L;DTNA:NM_001390:exon3:c.C362T:p.P121L;DTNA:NM_001198938:exon5:c.C362T:p.P121L;DTNA:NM_001198945:exon5:c.C362T:p.P121L;DTNA:NM_001391:exon3:c.C362T:p.P121L;DTNA:NM_001128175:exon5:c.C362T:p.P121L;DTNA:NM_001198940:exon5:c.C362T:p.P121L;DTNA:NM_001198939:exon5:c.C362T:p.P121L;DTNA:NM_001198941:exon4:c.C362T:p.P121L;DTNA:NM_032975:exon5:c.C362T:p.P121L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon4:c.C362T:p.P121L;ENSG00000134769:ENST00000598334:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000595022:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000444659:exon3:c.C362T:p.P121L;ENSG00000134769:ENST00000269191:exon3:c.C362T:p.P121L;ENSG00000134769:ENST00000283365:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000399113:exon3:c.C362T:p.P121L;ENSG00000134769:ENST00000269190:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000399121:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000590598:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000597599:exon4:c.C362T:p.P121L;ENSG00000134769:ENST00000554864:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000596745:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000598774:exon4:c.C362T:p.P121L;ENSG00000134769:ENST00000315456:exon5:c.C362T:p.P121L;ENSG00000134769:ENST00000598142:exon4:c.C362T:p.P121L;	0.170859076666813	0.372
18	32374215	G	A	18	34794251	y	y	splicing	DTNA(NM_001198945:exon5:c.362+1G>A;NM_001392:exon5:c.362+1G>A;NM_032975:exon5:c.362+1G>A;NM_032979:exon5:c.362+1G>A;NM_001198940:exon5:c.362+1G>A;NM_001198939:exon5:c.362+1G>A;NM_001198938:exon5:c.362+1G>A;NM_001128175:exon5:c.362+1G>A;NM_001198941:exon4:c.362+1G>A;NM_032978:exon4:c.362+1G>A;NM_001391:exon3:c.362+1G>A;NM_001390:exon3:c.362+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.362+1G>A;ENST00000596745:exon5:c.362+1G>A;ENST00000315456:exon5:c.362+1G>A;ENST00000590598:exon5:c.362+1G>A;ENST00000598334:exon5:c.362+1G>A;ENST00000399121:exon5:c.362+1G>A;ENST00000554864:exon5:c.362+1G>A;ENST00000269190:exon5:c.362+1G>A;ENST00000595022:exon5:c.362+1G>A;ENST00000598142:exon4:c.362+1G>A;ENST00000598774:exon4:c.362+1G>A;ENST00000348997:exon4:c.362+1G>A;ENST00000597599:exon4:c.362+1G>A;ENST00000269191:exon3:c.362+1G>A;ENST00000444659:exon3:c.362+1G>A;ENST00000399113:exon3:c.362+1G>A)	.	.	0.999989072007339	0.95
18	32374215	G	C	18	34794251	y	y	splicing	DTNA(NM_001198945:exon5:c.362+1G>C;NM_001392:exon5:c.362+1G>C;NM_032975:exon5:c.362+1G>C;NM_032979:exon5:c.362+1G>C;NM_001198940:exon5:c.362+1G>C;NM_001198939:exon5:c.362+1G>C;NM_001198938:exon5:c.362+1G>C;NM_001128175:exon5:c.362+1G>C;NM_001198941:exon4:c.362+1G>C;NM_032978:exon4:c.362+1G>C;NM_001391:exon3:c.362+1G>C;NM_001390:exon3:c.362+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.362+1G>C;ENST00000596745:exon5:c.362+1G>C;ENST00000315456:exon5:c.362+1G>C;ENST00000590598:exon5:c.362+1G>C;ENST00000598334:exon5:c.362+1G>C;ENST00000399121:exon5:c.362+1G>C;ENST00000554864:exon5:c.362+1G>C;ENST00000269190:exon5:c.362+1G>C;ENST00000595022:exon5:c.362+1G>C;ENST00000598142:exon4:c.362+1G>C;ENST00000598774:exon4:c.362+1G>C;ENST00000348997:exon4:c.362+1G>C;ENST00000597599:exon4:c.362+1G>C;ENST00000269191:exon3:c.362+1G>C;ENST00000444659:exon3:c.362+1G>C;ENST00000399113:exon3:c.362+1G>C)	.	.	0.999980428708689	0.95
18	32374215	G	T	18	34794251	y	y	splicing	DTNA(NM_001198945:exon5:c.362+1G>T;NM_001392:exon5:c.362+1G>T;NM_032975:exon5:c.362+1G>T;NM_032979:exon5:c.362+1G>T;NM_001198940:exon5:c.362+1G>T;NM_001198939:exon5:c.362+1G>T;NM_001198938:exon5:c.362+1G>T;NM_001128175:exon5:c.362+1G>T;NM_001198941:exon4:c.362+1G>T;NM_032978:exon4:c.362+1G>T;NM_001391:exon3:c.362+1G>T;NM_001390:exon3:c.362+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.362+1G>T;ENST00000596745:exon5:c.362+1G>T;ENST00000315456:exon5:c.362+1G>T;ENST00000590598:exon5:c.362+1G>T;ENST00000598334:exon5:c.362+1G>T;ENST00000399121:exon5:c.362+1G>T;ENST00000554864:exon5:c.362+1G>T;ENST00000269190:exon5:c.362+1G>T;ENST00000595022:exon5:c.362+1G>T;ENST00000598142:exon4:c.362+1G>T;ENST00000598774:exon4:c.362+1G>T;ENST00000348997:exon4:c.362+1G>T;ENST00000597599:exon4:c.362+1G>T;ENST00000269191:exon3:c.362+1G>T;ENST00000444659:exon3:c.362+1G>T;ENST00000399113:exon3:c.362+1G>T)	.	.	0.999980428708689	0.948
18	32374216	T	A	18	34794252	y	y	splicing	DTNA(NM_001198945:exon5:c.362+2T>A;NM_001392:exon5:c.362+2T>A;NM_032975:exon5:c.362+2T>A;NM_032979:exon5:c.362+2T>A;NM_001198940:exon5:c.362+2T>A;NM_001198939:exon5:c.362+2T>A;NM_001198938:exon5:c.362+2T>A;NM_001128175:exon5:c.362+2T>A;NM_001198941:exon4:c.362+2T>A;NM_032978:exon4:c.362+2T>A;NM_001391:exon3:c.362+2T>A;NM_001390:exon3:c.362+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.362+2T>A;ENST00000596745:exon5:c.362+2T>A;ENST00000315456:exon5:c.362+2T>A;ENST00000590598:exon5:c.362+2T>A;ENST00000598334:exon5:c.362+2T>A;ENST00000399121:exon5:c.362+2T>A;ENST00000554864:exon5:c.362+2T>A;ENST00000269190:exon5:c.362+2T>A;ENST00000595022:exon5:c.362+2T>A;ENST00000598142:exon4:c.362+2T>A;ENST00000598774:exon4:c.362+2T>A;ENST00000348997:exon4:c.362+2T>A;ENST00000597599:exon4:c.362+2T>A;ENST00000269191:exon3:c.362+2T>A;ENST00000444659:exon3:c.362+2T>A;ENST00000399113:exon3:c.362+2T>A)	.	.	0.999978952611685	0.942
18	32374216	T	C	18	34794252	y	y	splicing	DTNA(NM_001198945:exon5:c.362+2T>C;NM_001392:exon5:c.362+2T>C;NM_032975:exon5:c.362+2T>C;NM_032979:exon5:c.362+2T>C;NM_001198940:exon5:c.362+2T>C;NM_001198939:exon5:c.362+2T>C;NM_001198938:exon5:c.362+2T>C;NM_001128175:exon5:c.362+2T>C;NM_001198941:exon4:c.362+2T>C;NM_032978:exon4:c.362+2T>C;NM_001391:exon3:c.362+2T>C;NM_001390:exon3:c.362+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.362+2T>C;ENST00000596745:exon5:c.362+2T>C;ENST00000315456:exon5:c.362+2T>C;ENST00000590598:exon5:c.362+2T>C;ENST00000598334:exon5:c.362+2T>C;ENST00000399121:exon5:c.362+2T>C;ENST00000554864:exon5:c.362+2T>C;ENST00000269190:exon5:c.362+2T>C;ENST00000595022:exon5:c.362+2T>C;ENST00000598142:exon4:c.362+2T>C;ENST00000598774:exon4:c.362+2T>C;ENST00000348997:exon4:c.362+2T>C;ENST00000597599:exon4:c.362+2T>C;ENST00000269191:exon3:c.362+2T>C;ENST00000444659:exon3:c.362+2T>C;ENST00000399113:exon3:c.362+2T>C)	.	.	0.999408359588715	0.868
18	32374216	T	G	18	34794252	y	y	splicing	DTNA(NM_001198945:exon5:c.362+2T>G;NM_001392:exon5:c.362+2T>G;NM_032975:exon5:c.362+2T>G;NM_032979:exon5:c.362+2T>G;NM_001198940:exon5:c.362+2T>G;NM_001198939:exon5:c.362+2T>G;NM_001198938:exon5:c.362+2T>G;NM_001128175:exon5:c.362+2T>G;NM_001198941:exon4:c.362+2T>G;NM_032978:exon4:c.362+2T>G;NM_001391:exon3:c.362+2T>G;NM_001390:exon3:c.362+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon5:c.362+2T>G;ENST00000596745:exon5:c.362+2T>G;ENST00000315456:exon5:c.362+2T>G;ENST00000590598:exon5:c.362+2T>G;ENST00000598334:exon5:c.362+2T>G;ENST00000399121:exon5:c.362+2T>G;ENST00000554864:exon5:c.362+2T>G;ENST00000269190:exon5:c.362+2T>G;ENST00000595022:exon5:c.362+2T>G;ENST00000598142:exon4:c.362+2T>G;ENST00000598774:exon4:c.362+2T>G;ENST00000348997:exon4:c.362+2T>G;ENST00000597599:exon4:c.362+2T>G;ENST00000269191:exon3:c.362+2T>G;ENST00000444659:exon3:c.362+2T>G;ENST00000399113:exon3:c.362+2T>G)	.	.	0.99994568797423	0.94
18	32374217	A	C	18	34794253	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999951752332552	0.858
18	32374217	A	G	18	34794253	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00847283144420413	0.282
18	32374217	A	T	18	34794253	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99984431681987	0.876
18	32374218	A	C	18	34794254	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998520512061085	0.812
18	32374218	A	G	18	34794254	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999905994116125	0.9
18	32374218	A	T	18	34794254	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999611586542046	0.886
18	32374219	G	A	18	34794255	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999942811429554	0.982
18	32374219	G	C	18	34794255	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999981988179795	0.99
18	32374219	G	T	18	34794255	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999981988179795	0.982
18	32374220	C	A	18	34794256	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.06620714804819E-4	0.02
18	32374220	C	G	18	34794256	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.10119683312559E-5	0.05
18	32374220	C	T	18	34794256	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.98244838653286E-5	0.002
18	32374221	A	C	18	34794257	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.95416100750369E-5	0.0
18	32374221	A	G	18	34794257	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.95416100750369E-5	0.002
18	32374221	A	T	18	34794257	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00138009470374781	0.188
18	32374222	C	A	18	34794258	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.11896648384341E-5	0.028
18	32374222	C	G	18	34794258	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.39517788818806E-5	0.0
18	32374222	C	T	18	34794258	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.34602733508126E-5	0.0
18	32386171	A	C	18	34806207	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.67944982512943E-5	0.0
18	32386171	A	G	18	34806207	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.59653989491689E-5	0.02
18	32386171	A	T	18	34806207	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.67944982512943E-5	0.0
18	32386172	C	A	18	34806208	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.30380635278164E-4	0.014
18	32386172	C	G	18	34806208	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999178195163172	0.992
18	32386172	C	T	18	34806208	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.07347595564748E-5	0.0
18	32386173	C	A	18	34806209	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.21241346517292E-4	0.052
18	32386173	C	G	18	34806209	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.76828955012587E-4	0.036
18	32386173	C	T	18	34806209	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.48040621308233E-5	0.0
18	32386174	A	C	18	34806210	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.81122185803124E-5	0.0
18	32386174	A	G	18	34806210	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.89717857353376E-5	0.0
18	32386174	A	T	18	34806210	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.63756184029401E-5	0.004
18	32386175	T	A	18	34806211	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00793896964115557	0.176
18	32386175	T	C	18	34806211	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.71039691690421E-5	0.0
18	32386175	T	G	18	34806211	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998721372520375	0.962
18	32386176	T	A	18	34806212	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0406221475962082	0.356
18	32386176	T	C	18	34806212	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.61609301464538E-5	0.02
18	32386176	T	G	18	34806212	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0402761945495168	0.376
18	32386177	A	C	18	34806213	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.10929189024315E-5	0.0
18	32386177	A	G	18	34806213	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.28785307876182E-5	0.002
18	32386177	A	T	18	34806213	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.10929189024315E-5	0.0
18	32386178	A	C	18	34806214	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.67785652120541E-4	0.016
18	32386178	A	G	18	34806214	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999050940865775	0.99
18	32386178	A	T	18	34806214	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.67785652120541E-4	0.046
18	32386179	A	C	18	34806215	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.94944772894446E-4	0.052
18	32386179	A	G	18	34806215	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998945793114843	0.968
18	32386179	A	T	18	34806215	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00158499043848931	0.124
18	32386180	C	A	18	34806216	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.991551910360006	0.836
18	32386180	C	G	18	34806216	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999227141736473	0.718
18	32386180	C	T	18	34806216	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0150823750513175	0.288
18	32386181	A	C	18	34806217	y	y	splicing	DTNA(NM_001198945:exon6:c.363-2A>C;NM_001392:exon6:c.363-2A>C;NM_032975:exon6:c.363-2A>C;NM_032979:exon6:c.363-2A>C;NM_001198940:exon6:c.363-2A>C;NM_001198939:exon6:c.363-2A>C;NM_001198938:exon6:c.363-2A>C;NM_001128175:exon6:c.363-2A>C;NM_001198941:exon5:c.363-2A>C;NM_032978:exon5:c.363-2A>C;NM_001391:exon4:c.363-2A>C;NM_001390:exon4:c.363-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.363-2A>C;ENST00000596745:exon6:c.363-2A>C;ENST00000315456:exon6:c.363-2A>C;ENST00000590598:exon6:c.363-2A>C;ENST00000598334:exon6:c.363-2A>C;ENST00000399121:exon6:c.363-2A>C;ENST00000554864:exon6:c.363-2A>C;ENST00000269190:exon6:c.363-2A>C;ENST00000595022:exon6:c.363-2A>C;ENST00000598142:exon5:c.363-2A>C;ENST00000598774:exon5:c.363-2A>C;ENST00000348997:exon5:c.363-2A>C;ENST00000597599:exon5:c.363-2A>C;ENST00000269191:exon4:c.363-2A>C;ENST00000444659:exon4:c.363-2A>C;ENST00000399113:exon4:c.363-2A>C)	.	.	0.999982322733069	0.92
18	32386181	A	G	18	34806217	y	y	splicing	DTNA(NM_001198945:exon6:c.363-2A>G;NM_001392:exon6:c.363-2A>G;NM_032975:exon6:c.363-2A>G;NM_032979:exon6:c.363-2A>G;NM_001198940:exon6:c.363-2A>G;NM_001198939:exon6:c.363-2A>G;NM_001198938:exon6:c.363-2A>G;NM_001128175:exon6:c.363-2A>G;NM_001198941:exon5:c.363-2A>G;NM_032978:exon5:c.363-2A>G;NM_001391:exon4:c.363-2A>G;NM_001390:exon4:c.363-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.363-2A>G;ENST00000596745:exon6:c.363-2A>G;ENST00000315456:exon6:c.363-2A>G;ENST00000590598:exon6:c.363-2A>G;ENST00000598334:exon6:c.363-2A>G;ENST00000399121:exon6:c.363-2A>G;ENST00000554864:exon6:c.363-2A>G;ENST00000269190:exon6:c.363-2A>G;ENST00000595022:exon6:c.363-2A>G;ENST00000598142:exon5:c.363-2A>G;ENST00000598774:exon5:c.363-2A>G;ENST00000348997:exon5:c.363-2A>G;ENST00000597599:exon5:c.363-2A>G;ENST00000269191:exon4:c.363-2A>G;ENST00000444659:exon4:c.363-2A>G;ENST00000399113:exon4:c.363-2A>G)	.	.	0.999982322733069	0.92
18	32386181	A	T	18	34806217	y	y	splicing	DTNA(NM_001198945:exon6:c.363-2A>T;NM_001392:exon6:c.363-2A>T;NM_032975:exon6:c.363-2A>T;NM_032979:exon6:c.363-2A>T;NM_001198940:exon6:c.363-2A>T;NM_001198939:exon6:c.363-2A>T;NM_001198938:exon6:c.363-2A>T;NM_001128175:exon6:c.363-2A>T;NM_001198941:exon5:c.363-2A>T;NM_032978:exon5:c.363-2A>T;NM_001391:exon4:c.363-2A>T;NM_001390:exon4:c.363-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.363-2A>T;ENST00000596745:exon6:c.363-2A>T;ENST00000315456:exon6:c.363-2A>T;ENST00000590598:exon6:c.363-2A>T;ENST00000598334:exon6:c.363-2A>T;ENST00000399121:exon6:c.363-2A>T;ENST00000554864:exon6:c.363-2A>T;ENST00000269190:exon6:c.363-2A>T;ENST00000595022:exon6:c.363-2A>T;ENST00000598142:exon5:c.363-2A>T;ENST00000598774:exon5:c.363-2A>T;ENST00000348997:exon5:c.363-2A>T;ENST00000597599:exon5:c.363-2A>T;ENST00000269191:exon4:c.363-2A>T;ENST00000444659:exon4:c.363-2A>T;ENST00000399113:exon4:c.363-2A>T)	.	.	0.999982322733069	0.92
18	32386182	G	A	18	34806218	y	y	splicing	DTNA(NM_001198945:exon6:c.363-1G>A;NM_001392:exon6:c.363-1G>A;NM_032975:exon6:c.363-1G>A;NM_032979:exon6:c.363-1G>A;NM_001198940:exon6:c.363-1G>A;NM_001198939:exon6:c.363-1G>A;NM_001198938:exon6:c.363-1G>A;NM_001128175:exon6:c.363-1G>A;NM_001198941:exon5:c.363-1G>A;NM_032978:exon5:c.363-1G>A;NM_001391:exon4:c.363-1G>A;NM_001390:exon4:c.363-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.363-1G>A;ENST00000596745:exon6:c.363-1G>A;ENST00000315456:exon6:c.363-1G>A;ENST00000590598:exon6:c.363-1G>A;ENST00000598334:exon6:c.363-1G>A;ENST00000399121:exon6:c.363-1G>A;ENST00000554864:exon6:c.363-1G>A;ENST00000269190:exon6:c.363-1G>A;ENST00000595022:exon6:c.363-1G>A;ENST00000598142:exon5:c.363-1G>A;ENST00000598774:exon5:c.363-1G>A;ENST00000348997:exon5:c.363-1G>A;ENST00000597599:exon5:c.363-1G>A;ENST00000269191:exon4:c.363-1G>A;ENST00000444659:exon4:c.363-1G>A;ENST00000399113:exon4:c.363-1G>A)	.	.	0.999976638640456	0.926
18	32386182	G	C	18	34806218	y	y	splicing	DTNA(NM_001198945:exon6:c.363-1G>C;NM_001392:exon6:c.363-1G>C;NM_032975:exon6:c.363-1G>C;NM_032979:exon6:c.363-1G>C;NM_001198940:exon6:c.363-1G>C;NM_001198939:exon6:c.363-1G>C;NM_001198938:exon6:c.363-1G>C;NM_001128175:exon6:c.363-1G>C;NM_001198941:exon5:c.363-1G>C;NM_032978:exon5:c.363-1G>C;NM_001391:exon4:c.363-1G>C;NM_001390:exon4:c.363-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.363-1G>C;ENST00000596745:exon6:c.363-1G>C;ENST00000315456:exon6:c.363-1G>C;ENST00000590598:exon6:c.363-1G>C;ENST00000598334:exon6:c.363-1G>C;ENST00000399121:exon6:c.363-1G>C;ENST00000554864:exon6:c.363-1G>C;ENST00000269190:exon6:c.363-1G>C;ENST00000595022:exon6:c.363-1G>C;ENST00000598142:exon5:c.363-1G>C;ENST00000598774:exon5:c.363-1G>C;ENST00000348997:exon5:c.363-1G>C;ENST00000597599:exon5:c.363-1G>C;ENST00000269191:exon4:c.363-1G>C;ENST00000444659:exon4:c.363-1G>C;ENST00000399113:exon4:c.363-1G>C)	.	.	0.999976638640456	0.924
18	32386182	G	T	18	34806218	y	y	splicing	DTNA(NM_001198945:exon6:c.363-1G>T;NM_001392:exon6:c.363-1G>T;NM_032975:exon6:c.363-1G>T;NM_032979:exon6:c.363-1G>T;NM_001198940:exon6:c.363-1G>T;NM_001198939:exon6:c.363-1G>T;NM_001198938:exon6:c.363-1G>T;NM_001128175:exon6:c.363-1G>T;NM_001198941:exon5:c.363-1G>T;NM_032978:exon5:c.363-1G>T;NM_001391:exon4:c.363-1G>T;NM_001390:exon4:c.363-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.363-1G>T;ENST00000596745:exon6:c.363-1G>T;ENST00000315456:exon6:c.363-1G>T;ENST00000590598:exon6:c.363-1G>T;ENST00000598334:exon6:c.363-1G>T;ENST00000399121:exon6:c.363-1G>T;ENST00000554864:exon6:c.363-1G>T;ENST00000269190:exon6:c.363-1G>T;ENST00000595022:exon6:c.363-1G>T;ENST00000598142:exon5:c.363-1G>T;ENST00000598774:exon5:c.363-1G>T;ENST00000348997:exon5:c.363-1G>T;ENST00000597599:exon5:c.363-1G>T;ENST00000269191:exon4:c.363-1G>T;ENST00000444659:exon4:c.363-1G>T;ENST00000399113:exon4:c.363-1G>T)	.	.	0.999976638640456	0.926
18	32386183	G	A	18	34806219	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon6:c.G363A:p.P121P;DTNA:NM_001392:exon6:c.G363A:p.P121P;DTNA:NM_032978:exon5:c.G363A:p.P121P;DTNA:NM_001390:exon4:c.G363A:p.P121P;DTNA:NM_001198938:exon6:c.G363A:p.P121P;DTNA:NM_001198945:exon6:c.G363A:p.P121P;DTNA:NM_001391:exon4:c.G363A:p.P121P;DTNA:NM_001128175:exon6:c.G363A:p.P121P;DTNA:NM_001198940:exon6:c.G363A:p.P121P;DTNA:NM_001198939:exon6:c.G363A:p.P121P;DTNA:NM_001198941:exon5:c.G363A:p.P121P;DTNA:NM_032975:exon6:c.G363A:p.P121P;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.G363A:p.P121P;ENSG00000134769:ENST00000598334:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000595022:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000444659:exon4:c.G363A:p.P121P;ENSG00000134769:ENST00000269191:exon4:c.G363A:p.P121P;ENSG00000134769:ENST00000283365:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000399113:exon4:c.G363A:p.P121P;ENSG00000134769:ENST00000269190:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000399121:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000590598:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000597599:exon5:c.G363A:p.P121P;ENSG00000134769:ENST00000554864:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000596745:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000598774:exon5:c.G363A:p.P121P;ENSG00000134769:ENST00000315456:exon6:c.G363A:p.P121P;ENSG00000134769:ENST00000598142:exon5:c.G363A:p.P121P;	0.0197031182137814	0.248
18	32386183	G	C	18	34806219	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon6:c.G363C:p.P121P;DTNA:NM_001392:exon6:c.G363C:p.P121P;DTNA:NM_032978:exon5:c.G363C:p.P121P;DTNA:NM_001390:exon4:c.G363C:p.P121P;DTNA:NM_001198938:exon6:c.G363C:p.P121P;DTNA:NM_001198945:exon6:c.G363C:p.P121P;DTNA:NM_001391:exon4:c.G363C:p.P121P;DTNA:NM_001128175:exon6:c.G363C:p.P121P;DTNA:NM_001198940:exon6:c.G363C:p.P121P;DTNA:NM_001198939:exon6:c.G363C:p.P121P;DTNA:NM_001198941:exon5:c.G363C:p.P121P;DTNA:NM_032975:exon6:c.G363C:p.P121P;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.G363C:p.P121P;ENSG00000134769:ENST00000598334:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000595022:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000444659:exon4:c.G363C:p.P121P;ENSG00000134769:ENST00000269191:exon4:c.G363C:p.P121P;ENSG00000134769:ENST00000283365:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000399113:exon4:c.G363C:p.P121P;ENSG00000134769:ENST00000269190:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000399121:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000590598:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000597599:exon5:c.G363C:p.P121P;ENSG00000134769:ENST00000554864:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000596745:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000598774:exon5:c.G363C:p.P121P;ENSG00000134769:ENST00000315456:exon6:c.G363C:p.P121P;ENSG00000134769:ENST00000598142:exon5:c.G363C:p.P121P;	0.0289962829497601	0.27
18	32386183	G	T	18	34806219	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon6:c.G363T:p.P121P;DTNA:NM_001392:exon6:c.G363T:p.P121P;DTNA:NM_032978:exon5:c.G363T:p.P121P;DTNA:NM_001390:exon4:c.G363T:p.P121P;DTNA:NM_001198938:exon6:c.G363T:p.P121P;DTNA:NM_001198945:exon6:c.G363T:p.P121P;DTNA:NM_001391:exon4:c.G363T:p.P121P;DTNA:NM_001128175:exon6:c.G363T:p.P121P;DTNA:NM_001198940:exon6:c.G363T:p.P121P;DTNA:NM_001198939:exon6:c.G363T:p.P121P;DTNA:NM_001198941:exon5:c.G363T:p.P121P;DTNA:NM_032975:exon6:c.G363T:p.P121P;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.G363T:p.P121P;ENSG00000134769:ENST00000598334:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000595022:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000444659:exon4:c.G363T:p.P121P;ENSG00000134769:ENST00000269191:exon4:c.G363T:p.P121P;ENSG00000134769:ENST00000283365:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000399113:exon4:c.G363T:p.P121P;ENSG00000134769:ENST00000269190:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000399121:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000590598:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000597599:exon5:c.G363T:p.P121P;ENSG00000134769:ENST00000554864:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000596745:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000598774:exon5:c.G363T:p.P121P;ENSG00000134769:ENST00000315456:exon6:c.G363T:p.P121P;ENSG00000134769:ENST00000598142:exon5:c.G363T:p.P121P;	0.323734617678789	0.584
18	32386184	G	A	18	34806220	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.G364A:p.E122K;DTNA:NM_001392:exon6:c.G364A:p.E122K;DTNA:NM_032978:exon5:c.G364A:p.E122K;DTNA:NM_001390:exon4:c.G364A:p.E122K;DTNA:NM_001198938:exon6:c.G364A:p.E122K;DTNA:NM_001198945:exon6:c.G364A:p.E122K;DTNA:NM_001391:exon4:c.G364A:p.E122K;DTNA:NM_001128175:exon6:c.G364A:p.E122K;DTNA:NM_001198940:exon6:c.G364A:p.E122K;DTNA:NM_001198939:exon6:c.G364A:p.E122K;DTNA:NM_001198941:exon5:c.G364A:p.E122K;DTNA:NM_032975:exon6:c.G364A:p.E122K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.G364A:p.E122K;ENSG00000134769:ENST00000598334:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000595022:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000444659:exon4:c.G364A:p.E122K;ENSG00000134769:ENST00000269191:exon4:c.G364A:p.E122K;ENSG00000134769:ENST00000283365:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000399113:exon4:c.G364A:p.E122K;ENSG00000134769:ENST00000269190:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000399121:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000590598:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000597599:exon5:c.G364A:p.E122K;ENSG00000134769:ENST00000554864:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000596745:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000598774:exon5:c.G364A:p.E122K;ENSG00000134769:ENST00000315456:exon6:c.G364A:p.E122K;ENSG00000134769:ENST00000598142:exon5:c.G364A:p.E122K;	0.967377573997876	0.716
18	32386184	G	C	18	34806220	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.G364C:p.E122Q;DTNA:NM_001392:exon6:c.G364C:p.E122Q;DTNA:NM_032978:exon5:c.G364C:p.E122Q;DTNA:NM_001390:exon4:c.G364C:p.E122Q;DTNA:NM_001198938:exon6:c.G364C:p.E122Q;DTNA:NM_001198945:exon6:c.G364C:p.E122Q;DTNA:NM_001391:exon4:c.G364C:p.E122Q;DTNA:NM_001128175:exon6:c.G364C:p.E122Q;DTNA:NM_001198940:exon6:c.G364C:p.E122Q;DTNA:NM_001198939:exon6:c.G364C:p.E122Q;DTNA:NM_001198941:exon5:c.G364C:p.E122Q;DTNA:NM_032975:exon6:c.G364C:p.E122Q;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.G364C:p.E122Q;ENSG00000134769:ENST00000598334:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000595022:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000444659:exon4:c.G364C:p.E122Q;ENSG00000134769:ENST00000269191:exon4:c.G364C:p.E122Q;ENSG00000134769:ENST00000283365:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000399113:exon4:c.G364C:p.E122Q;ENSG00000134769:ENST00000269190:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000399121:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000590598:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000597599:exon5:c.G364C:p.E122Q;ENSG00000134769:ENST00000554864:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000596745:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000598774:exon5:c.G364C:p.E122Q;ENSG00000134769:ENST00000315456:exon6:c.G364C:p.E122Q;ENSG00000134769:ENST00000598142:exon5:c.G364C:p.E122Q;	0.905122909568664	0.824
18	32386184	G	T	18	34806220	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon6:c.G364T:p.E122X;DTNA:NM_001392:exon6:c.G364T:p.E122X;DTNA:NM_032978:exon5:c.G364T:p.E122X;DTNA:NM_001390:exon4:c.G364T:p.E122X;DTNA:NM_001198938:exon6:c.G364T:p.E122X;DTNA:NM_001198945:exon6:c.G364T:p.E122X;DTNA:NM_001391:exon4:c.G364T:p.E122X;DTNA:NM_001128175:exon6:c.G364T:p.E122X;DTNA:NM_001198940:exon6:c.G364T:p.E122X;DTNA:NM_001198939:exon6:c.G364T:p.E122X;DTNA:NM_001198941:exon5:c.G364T:p.E122X;DTNA:NM_032975:exon6:c.G364T:p.E122X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon5:c.G364T:p.E122X;ENSG00000134769:ENST00000598334:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000595022:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000444659:exon4:c.G364T:p.E122X;ENSG00000134769:ENST00000269191:exon4:c.G364T:p.E122X;ENSG00000134769:ENST00000283365:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000399113:exon4:c.G364T:p.E122X;ENSG00000134769:ENST00000269190:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000399121:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000590598:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000597599:exon5:c.G364T:p.E122X;ENSG00000134769:ENST00000554864:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000596745:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000598774:exon5:c.G364T:p.E122X;ENSG00000134769:ENST00000315456:exon6:c.G364T:p.E122X;ENSG00000134769:ENST00000598142:exon5:c.G364T:p.E122X;	0.939332319077204	0.842
18	32386266	G	A	18	34806302	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.G446A:p.R149K;DTNA:NM_001392:exon6:c.G446A:p.R149K;DTNA:NM_032978:exon5:c.G446A:p.R149K;DTNA:NM_001390:exon4:c.G446A:p.R149K;DTNA:NM_001198938:exon6:c.G446A:p.R149K;DTNA:NM_001198945:exon6:c.G446A:p.R149K;DTNA:NM_001391:exon4:c.G446A:p.R149K;DTNA:NM_001128175:exon6:c.G446A:p.R149K;DTNA:NM_001198940:exon6:c.G446A:p.R149K;DTNA:NM_001198939:exon6:c.G446A:p.R149K;DTNA:NM_001198941:exon5:c.G446A:p.R149K;DTNA:NM_032975:exon6:c.G446A:p.R149K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.G446A:p.R149K;ENSG00000134769:ENST00000598334:exon6:c.G446A:p.R149K;ENSG00000134769:ENST00000595022:exon6:c.G446A:p.R149K;ENSG00000134769:ENST00000444659:exon4:c.G446A:p.R149K;ENSG00000134769:ENST00000269191:exon4:c.G446A:p.R149K;ENSG00000134769:ENST00000283365:exon6:c.G446A:p.R149K;ENSG00000134769:ENST00000399113:exon4:c.G446A:p.R149K;ENSG00000134769:ENST00000269190:exon6:c.G446A:p.R149K;ENSG00000134769:ENST00000399121:exon6:c.G446A:p.R149K;ENSG00000134769:ENST00000597599:exon5:c.G446A:p.R149K;ENSG00000134769:ENST00000554864:exon6:c.G446A:p.R149K;ENSG00000134769:ENST00000596745:exon6:c.G446A:p.R149K;ENSG00000134769:ENST00000598774:exon5:c.G446A:p.R149K;ENSG00000134769:ENST00000315456:exon6:c.G446A:p.R149K;ENSG00000134769:ENST00000598142:exon5:c.G446A:p.R149K;	0.0266274180488912	0.296
18	32386266	G	C	18	34806302	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.G446C:p.R149T;DTNA:NM_001392:exon6:c.G446C:p.R149T;DTNA:NM_032978:exon5:c.G446C:p.R149T;DTNA:NM_001390:exon4:c.G446C:p.R149T;DTNA:NM_001198938:exon6:c.G446C:p.R149T;DTNA:NM_001198945:exon6:c.G446C:p.R149T;DTNA:NM_001391:exon4:c.G446C:p.R149T;DTNA:NM_001128175:exon6:c.G446C:p.R149T;DTNA:NM_001198940:exon6:c.G446C:p.R149T;DTNA:NM_001198939:exon6:c.G446C:p.R149T;DTNA:NM_001198941:exon5:c.G446C:p.R149T;DTNA:NM_032975:exon6:c.G446C:p.R149T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.G446C:p.R149T;ENSG00000134769:ENST00000598334:exon6:c.G446C:p.R149T;ENSG00000134769:ENST00000595022:exon6:c.G446C:p.R149T;ENSG00000134769:ENST00000444659:exon4:c.G446C:p.R149T;ENSG00000134769:ENST00000269191:exon4:c.G446C:p.R149T;ENSG00000134769:ENST00000283365:exon6:c.G446C:p.R149T;ENSG00000134769:ENST00000399113:exon4:c.G446C:p.R149T;ENSG00000134769:ENST00000269190:exon6:c.G446C:p.R149T;ENSG00000134769:ENST00000399121:exon6:c.G446C:p.R149T;ENSG00000134769:ENST00000597599:exon5:c.G446C:p.R149T;ENSG00000134769:ENST00000554864:exon6:c.G446C:p.R149T;ENSG00000134769:ENST00000596745:exon6:c.G446C:p.R149T;ENSG00000134769:ENST00000598774:exon5:c.G446C:p.R149T;ENSG00000134769:ENST00000315456:exon6:c.G446C:p.R149T;ENSG00000134769:ENST00000598142:exon5:c.G446C:p.R149T;	0.0607870027035795	0.414
18	32386266	G	T	18	34806302	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.G446T:p.R149I;DTNA:NM_001392:exon6:c.G446T:p.R149I;DTNA:NM_032978:exon5:c.G446T:p.R149I;DTNA:NM_001390:exon4:c.G446T:p.R149I;DTNA:NM_001198938:exon6:c.G446T:p.R149I;DTNA:NM_001198945:exon6:c.G446T:p.R149I;DTNA:NM_001391:exon4:c.G446T:p.R149I;DTNA:NM_001128175:exon6:c.G446T:p.R149I;DTNA:NM_001198940:exon6:c.G446T:p.R149I;DTNA:NM_001198939:exon6:c.G446T:p.R149I;DTNA:NM_001198941:exon5:c.G446T:p.R149I;DTNA:NM_032975:exon6:c.G446T:p.R149I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.G446T:p.R149I;ENSG00000134769:ENST00000598334:exon6:c.G446T:p.R149I;ENSG00000134769:ENST00000595022:exon6:c.G446T:p.R149I;ENSG00000134769:ENST00000444659:exon4:c.G446T:p.R149I;ENSG00000134769:ENST00000269191:exon4:c.G446T:p.R149I;ENSG00000134769:ENST00000283365:exon6:c.G446T:p.R149I;ENSG00000134769:ENST00000399113:exon4:c.G446T:p.R149I;ENSG00000134769:ENST00000269190:exon6:c.G446T:p.R149I;ENSG00000134769:ENST00000399121:exon6:c.G446T:p.R149I;ENSG00000134769:ENST00000597599:exon5:c.G446T:p.R149I;ENSG00000134769:ENST00000554864:exon6:c.G446T:p.R149I;ENSG00000134769:ENST00000596745:exon6:c.G446T:p.R149I;ENSG00000134769:ENST00000598774:exon5:c.G446T:p.R149I;ENSG00000134769:ENST00000315456:exon6:c.G446T:p.R149I;ENSG00000134769:ENST00000598142:exon5:c.G446T:p.R149I;	0.211566493579774	0.424
18	32386267	A	C	18	34806303	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.A447C:p.R149S;DTNA:NM_001392:exon6:c.A447C:p.R149S;DTNA:NM_032978:exon5:c.A447C:p.R149S;DTNA:NM_001390:exon4:c.A447C:p.R149S;DTNA:NM_001198938:exon6:c.A447C:p.R149S;DTNA:NM_001198945:exon6:c.A447C:p.R149S;DTNA:NM_001391:exon4:c.A447C:p.R149S;DTNA:NM_001128175:exon6:c.A447C:p.R149S;DTNA:NM_001198940:exon6:c.A447C:p.R149S;DTNA:NM_001198939:exon6:c.A447C:p.R149S;DTNA:NM_001198941:exon5:c.A447C:p.R149S;DTNA:NM_032975:exon6:c.A447C:p.R149S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.A447C:p.R149S;ENSG00000134769:ENST00000598334:exon6:c.A447C:p.R149S;ENSG00000134769:ENST00000595022:exon6:c.A447C:p.R149S;ENSG00000134769:ENST00000444659:exon4:c.A447C:p.R149S;ENSG00000134769:ENST00000269191:exon4:c.A447C:p.R149S;ENSG00000134769:ENST00000283365:exon6:c.A447C:p.R149S;ENSG00000134769:ENST00000399113:exon4:c.A447C:p.R149S;ENSG00000134769:ENST00000269190:exon6:c.A447C:p.R149S;ENSG00000134769:ENST00000399121:exon6:c.A447C:p.R149S;ENSG00000134769:ENST00000597599:exon5:c.A447C:p.R149S;ENSG00000134769:ENST00000554864:exon6:c.A447C:p.R149S;ENSG00000134769:ENST00000596745:exon6:c.A447C:p.R149S;ENSG00000134769:ENST00000598774:exon5:c.A447C:p.R149S;ENSG00000134769:ENST00000315456:exon6:c.A447C:p.R149S;ENSG00000134769:ENST00000598142:exon5:c.A447C:p.R149S;	0.679771700749218	0.644
18	32386267	A	G	18	34806303	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon6:c.A447G:p.R149R;DTNA:NM_001392:exon6:c.A447G:p.R149R;DTNA:NM_032978:exon5:c.A447G:p.R149R;DTNA:NM_001390:exon4:c.A447G:p.R149R;DTNA:NM_001198938:exon6:c.A447G:p.R149R;DTNA:NM_001198945:exon6:c.A447G:p.R149R;DTNA:NM_001391:exon4:c.A447G:p.R149R;DTNA:NM_001128175:exon6:c.A447G:p.R149R;DTNA:NM_001198940:exon6:c.A447G:p.R149R;DTNA:NM_001198939:exon6:c.A447G:p.R149R;DTNA:NM_001198941:exon5:c.A447G:p.R149R;DTNA:NM_032975:exon6:c.A447G:p.R149R;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.A447G:p.R149R;ENSG00000134769:ENST00000598334:exon6:c.A447G:p.R149R;ENSG00000134769:ENST00000595022:exon6:c.A447G:p.R149R;ENSG00000134769:ENST00000444659:exon4:c.A447G:p.R149R;ENSG00000134769:ENST00000269191:exon4:c.A447G:p.R149R;ENSG00000134769:ENST00000283365:exon6:c.A447G:p.R149R;ENSG00000134769:ENST00000399113:exon4:c.A447G:p.R149R;ENSG00000134769:ENST00000269190:exon6:c.A447G:p.R149R;ENSG00000134769:ENST00000399121:exon6:c.A447G:p.R149R;ENSG00000134769:ENST00000597599:exon5:c.A447G:p.R149R;ENSG00000134769:ENST00000554864:exon6:c.A447G:p.R149R;ENSG00000134769:ENST00000596745:exon6:c.A447G:p.R149R;ENSG00000134769:ENST00000598774:exon5:c.A447G:p.R149R;ENSG00000134769:ENST00000315456:exon6:c.A447G:p.R149R;ENSG00000134769:ENST00000598142:exon5:c.A447G:p.R149R;	0.554799617219187	0.392
18	32386267	A	T	18	34806303	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.A447T:p.R149S;DTNA:NM_001392:exon6:c.A447T:p.R149S;DTNA:NM_032978:exon5:c.A447T:p.R149S;DTNA:NM_001390:exon4:c.A447T:p.R149S;DTNA:NM_001198938:exon6:c.A447T:p.R149S;DTNA:NM_001198945:exon6:c.A447T:p.R149S;DTNA:NM_001391:exon4:c.A447T:p.R149S;DTNA:NM_001128175:exon6:c.A447T:p.R149S;DTNA:NM_001198940:exon6:c.A447T:p.R149S;DTNA:NM_001198939:exon6:c.A447T:p.R149S;DTNA:NM_001198941:exon5:c.A447T:p.R149S;DTNA:NM_032975:exon6:c.A447T:p.R149S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.A447T:p.R149S;ENSG00000134769:ENST00000598334:exon6:c.A447T:p.R149S;ENSG00000134769:ENST00000595022:exon6:c.A447T:p.R149S;ENSG00000134769:ENST00000444659:exon4:c.A447T:p.R149S;ENSG00000134769:ENST00000269191:exon4:c.A447T:p.R149S;ENSG00000134769:ENST00000283365:exon6:c.A447T:p.R149S;ENSG00000134769:ENST00000399113:exon4:c.A447T:p.R149S;ENSG00000134769:ENST00000269190:exon6:c.A447T:p.R149S;ENSG00000134769:ENST00000399121:exon6:c.A447T:p.R149S;ENSG00000134769:ENST00000597599:exon5:c.A447T:p.R149S;ENSG00000134769:ENST00000554864:exon6:c.A447T:p.R149S;ENSG00000134769:ENST00000596745:exon6:c.A447T:p.R149S;ENSG00000134769:ENST00000598774:exon5:c.A447T:p.R149S;ENSG00000134769:ENST00000315456:exon6:c.A447T:p.R149S;ENSG00000134769:ENST00000598142:exon5:c.A447T:p.R149S;	0.670348690569919	0.62
18	32386268	T	A	18	34806304	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.T448A:p.Y150N;DTNA:NM_001392:exon6:c.T448A:p.Y150N;DTNA:NM_032978:exon5:c.T448A:p.Y150N;DTNA:NM_001390:exon4:c.T448A:p.Y150N;DTNA:NM_001198938:exon6:c.T448A:p.Y150N;DTNA:NM_001198945:exon6:c.T448A:p.Y150N;DTNA:NM_001391:exon4:c.T448A:p.Y150N;DTNA:NM_001128175:exon6:c.T448A:p.Y150N;DTNA:NM_001198940:exon6:c.T448A:p.Y150N;DTNA:NM_001198939:exon6:c.T448A:p.Y150N;DTNA:NM_001198941:exon5:c.T448A:p.Y150N;DTNA:NM_032975:exon6:c.T448A:p.Y150N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.T448A:p.Y150N;ENSG00000134769:ENST00000598334:exon6:c.T448A:p.Y150N;ENSG00000134769:ENST00000595022:exon6:c.T448A:p.Y150N;ENSG00000134769:ENST00000444659:exon4:c.T448A:p.Y150N;ENSG00000134769:ENST00000269191:exon4:c.T448A:p.Y150N;ENSG00000134769:ENST00000283365:exon6:c.T448A:p.Y150N;ENSG00000134769:ENST00000399113:exon4:c.T448A:p.Y150N;ENSG00000134769:ENST00000269190:exon6:c.T448A:p.Y150N;ENSG00000134769:ENST00000399121:exon6:c.T448A:p.Y150N;ENSG00000134769:ENST00000597599:exon5:c.T448A:p.Y150N;ENSG00000134769:ENST00000554864:exon6:c.T448A:p.Y150N;ENSG00000134769:ENST00000596745:exon6:c.T448A:p.Y150N;ENSG00000134769:ENST00000598774:exon5:c.T448A:p.Y150N;ENSG00000134769:ENST00000315456:exon6:c.T448A:p.Y150N;ENSG00000134769:ENST00000598142:exon5:c.T448A:p.Y150N;	0.0430931187779261	0.306
18	32386268	T	C	18	34806304	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.T448C:p.Y150H;DTNA:NM_001392:exon6:c.T448C:p.Y150H;DTNA:NM_032978:exon5:c.T448C:p.Y150H;DTNA:NM_001390:exon4:c.T448C:p.Y150H;DTNA:NM_001198938:exon6:c.T448C:p.Y150H;DTNA:NM_001198945:exon6:c.T448C:p.Y150H;DTNA:NM_001391:exon4:c.T448C:p.Y150H;DTNA:NM_001128175:exon6:c.T448C:p.Y150H;DTNA:NM_001198940:exon6:c.T448C:p.Y150H;DTNA:NM_001198939:exon6:c.T448C:p.Y150H;DTNA:NM_001198941:exon5:c.T448C:p.Y150H;DTNA:NM_032975:exon6:c.T448C:p.Y150H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.T448C:p.Y150H;ENSG00000134769:ENST00000598334:exon6:c.T448C:p.Y150H;ENSG00000134769:ENST00000595022:exon6:c.T448C:p.Y150H;ENSG00000134769:ENST00000444659:exon4:c.T448C:p.Y150H;ENSG00000134769:ENST00000269191:exon4:c.T448C:p.Y150H;ENSG00000134769:ENST00000283365:exon6:c.T448C:p.Y150H;ENSG00000134769:ENST00000399113:exon4:c.T448C:p.Y150H;ENSG00000134769:ENST00000269190:exon6:c.T448C:p.Y150H;ENSG00000134769:ENST00000399121:exon6:c.T448C:p.Y150H;ENSG00000134769:ENST00000597599:exon5:c.T448C:p.Y150H;ENSG00000134769:ENST00000554864:exon6:c.T448C:p.Y150H;ENSG00000134769:ENST00000596745:exon6:c.T448C:p.Y150H;ENSG00000134769:ENST00000598774:exon5:c.T448C:p.Y150H;ENSG00000134769:ENST00000315456:exon6:c.T448C:p.Y150H;ENSG00000134769:ENST00000598142:exon5:c.T448C:p.Y150H;	0.144234582080144	0.302
18	32386268	T	G	18	34806304	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon6:c.T448G:p.Y150D;DTNA:NM_001392:exon6:c.T448G:p.Y150D;DTNA:NM_032978:exon5:c.T448G:p.Y150D;DTNA:NM_001390:exon4:c.T448G:p.Y150D;DTNA:NM_001198938:exon6:c.T448G:p.Y150D;DTNA:NM_001198945:exon6:c.T448G:p.Y150D;DTNA:NM_001391:exon4:c.T448G:p.Y150D;DTNA:NM_001128175:exon6:c.T448G:p.Y150D;DTNA:NM_001198940:exon6:c.T448G:p.Y150D;DTNA:NM_001198939:exon6:c.T448G:p.Y150D;DTNA:NM_001198941:exon5:c.T448G:p.Y150D;DTNA:NM_032975:exon6:c.T448G:p.Y150D;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon5:c.T448G:p.Y150D;ENSG00000134769:ENST00000598334:exon6:c.T448G:p.Y150D;ENSG00000134769:ENST00000595022:exon6:c.T448G:p.Y150D;ENSG00000134769:ENST00000444659:exon4:c.T448G:p.Y150D;ENSG00000134769:ENST00000269191:exon4:c.T448G:p.Y150D;ENSG00000134769:ENST00000283365:exon6:c.T448G:p.Y150D;ENSG00000134769:ENST00000399113:exon4:c.T448G:p.Y150D;ENSG00000134769:ENST00000269190:exon6:c.T448G:p.Y150D;ENSG00000134769:ENST00000399121:exon6:c.T448G:p.Y150D;ENSG00000134769:ENST00000597599:exon5:c.T448G:p.Y150D;ENSG00000134769:ENST00000554864:exon6:c.T448G:p.Y150D;ENSG00000134769:ENST00000596745:exon6:c.T448G:p.Y150D;ENSG00000134769:ENST00000598774:exon5:c.T448G:p.Y150D;ENSG00000134769:ENST00000315456:exon6:c.T448G:p.Y150D;ENSG00000134769:ENST00000598142:exon5:c.T448G:p.Y150D;	0.0192288367541823	0.354
18	32386269	G	A	18	34806305	y	y	splicing	DTNA(NM_001198945:exon6:c.448+1G>A;NM_001392:exon6:c.448+1G>A;NM_032975:exon6:c.448+1G>A;NM_032979:exon6:c.448+1G>A;NM_001198940:exon6:c.448+1G>A;NM_001198939:exon6:c.448+1G>A;NM_001198938:exon6:c.448+1G>A;NM_001128175:exon6:c.448+1G>A;NM_001198941:exon5:c.448+1G>A;NM_032978:exon5:c.448+1G>A;NM_001391:exon4:c.448+1G>A;NM_001390:exon4:c.448+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.448+1G>A;ENST00000596745:exon6:c.448+1G>A;ENST00000315456:exon6:c.448+1G>A;ENST00000598334:exon6:c.448+1G>A;ENST00000399121:exon6:c.448+1G>A;ENST00000554864:exon6:c.448+1G>A;ENST00000269190:exon6:c.448+1G>A;ENST00000595022:exon6:c.448+1G>A;ENST00000598142:exon5:c.448+1G>A;ENST00000598774:exon5:c.448+1G>A;ENST00000348997:exon5:c.448+1G>A;ENST00000597599:exon5:c.448+1G>A;ENST00000269191:exon4:c.448+1G>A;ENST00000444659:exon4:c.448+1G>A;ENST00000399113:exon4:c.448+1G>A)	.	.	0.999981760802075	0.944
18	32386269	G	C	18	34806305	y	y	splicing	DTNA(NM_001198945:exon6:c.448+1G>C;NM_001392:exon6:c.448+1G>C;NM_032975:exon6:c.448+1G>C;NM_032979:exon6:c.448+1G>C;NM_001198940:exon6:c.448+1G>C;NM_001198939:exon6:c.448+1G>C;NM_001198938:exon6:c.448+1G>C;NM_001128175:exon6:c.448+1G>C;NM_001198941:exon5:c.448+1G>C;NM_032978:exon5:c.448+1G>C;NM_001391:exon4:c.448+1G>C;NM_001390:exon4:c.448+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.448+1G>C;ENST00000596745:exon6:c.448+1G>C;ENST00000315456:exon6:c.448+1G>C;ENST00000598334:exon6:c.448+1G>C;ENST00000399121:exon6:c.448+1G>C;ENST00000554864:exon6:c.448+1G>C;ENST00000269190:exon6:c.448+1G>C;ENST00000595022:exon6:c.448+1G>C;ENST00000598142:exon5:c.448+1G>C;ENST00000598774:exon5:c.448+1G>C;ENST00000348997:exon5:c.448+1G>C;ENST00000597599:exon5:c.448+1G>C;ENST00000269191:exon4:c.448+1G>C;ENST00000444659:exon4:c.448+1G>C;ENST00000399113:exon4:c.448+1G>C)	.	.	0.999981760802075	0.944
18	32386269	G	T	18	34806305	y	y	splicing	DTNA(NM_001198945:exon6:c.448+1G>T;NM_001392:exon6:c.448+1G>T;NM_032975:exon6:c.448+1G>T;NM_032979:exon6:c.448+1G>T;NM_001198940:exon6:c.448+1G>T;NM_001198939:exon6:c.448+1G>T;NM_001198938:exon6:c.448+1G>T;NM_001128175:exon6:c.448+1G>T;NM_001198941:exon5:c.448+1G>T;NM_032978:exon5:c.448+1G>T;NM_001391:exon4:c.448+1G>T;NM_001390:exon4:c.448+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.448+1G>T;ENST00000596745:exon6:c.448+1G>T;ENST00000315456:exon6:c.448+1G>T;ENST00000598334:exon6:c.448+1G>T;ENST00000399121:exon6:c.448+1G>T;ENST00000554864:exon6:c.448+1G>T;ENST00000269190:exon6:c.448+1G>T;ENST00000595022:exon6:c.448+1G>T;ENST00000598142:exon5:c.448+1G>T;ENST00000598774:exon5:c.448+1G>T;ENST00000348997:exon5:c.448+1G>T;ENST00000597599:exon5:c.448+1G>T;ENST00000269191:exon4:c.448+1G>T;ENST00000444659:exon4:c.448+1G>T;ENST00000399113:exon4:c.448+1G>T)	.	.	0.999981760802075	0.944
18	32386270	T	A	18	34806306	y	y	splicing	DTNA(NM_001198945:exon6:c.448+2T>A;NM_001392:exon6:c.448+2T>A;NM_032975:exon6:c.448+2T>A;NM_032979:exon6:c.448+2T>A;NM_001198940:exon6:c.448+2T>A;NM_001198939:exon6:c.448+2T>A;NM_001198938:exon6:c.448+2T>A;NM_001128175:exon6:c.448+2T>A;NM_001198941:exon5:c.448+2T>A;NM_032978:exon5:c.448+2T>A;NM_001391:exon4:c.448+2T>A;NM_001390:exon4:c.448+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.448+2T>A;ENST00000596745:exon6:c.448+2T>A;ENST00000315456:exon6:c.448+2T>A;ENST00000598334:exon6:c.448+2T>A;ENST00000399121:exon6:c.448+2T>A;ENST00000554864:exon6:c.448+2T>A;ENST00000269190:exon6:c.448+2T>A;ENST00000595022:exon6:c.448+2T>A;ENST00000598142:exon5:c.448+2T>A;ENST00000598774:exon5:c.448+2T>A;ENST00000348997:exon5:c.448+2T>A;ENST00000597599:exon5:c.448+2T>A;ENST00000269191:exon4:c.448+2T>A;ENST00000444659:exon4:c.448+2T>A;ENST00000399113:exon4:c.448+2T>A)	.	.	0.999989917668626	0.926
18	32386270	T	C	18	34806306	y	y	splicing	DTNA(NM_001198945:exon6:c.448+2T>C;NM_001392:exon6:c.448+2T>C;NM_032975:exon6:c.448+2T>C;NM_032979:exon6:c.448+2T>C;NM_001198940:exon6:c.448+2T>C;NM_001198939:exon6:c.448+2T>C;NM_001198938:exon6:c.448+2T>C;NM_001128175:exon6:c.448+2T>C;NM_001198941:exon5:c.448+2T>C;NM_032978:exon5:c.448+2T>C;NM_001391:exon4:c.448+2T>C;NM_001390:exon4:c.448+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.448+2T>C;ENST00000596745:exon6:c.448+2T>C;ENST00000315456:exon6:c.448+2T>C;ENST00000598334:exon6:c.448+2T>C;ENST00000399121:exon6:c.448+2T>C;ENST00000554864:exon6:c.448+2T>C;ENST00000269190:exon6:c.448+2T>C;ENST00000595022:exon6:c.448+2T>C;ENST00000598142:exon5:c.448+2T>C;ENST00000598774:exon5:c.448+2T>C;ENST00000348997:exon5:c.448+2T>C;ENST00000597599:exon5:c.448+2T>C;ENST00000269191:exon4:c.448+2T>C;ENST00000444659:exon4:c.448+2T>C;ENST00000399113:exon4:c.448+2T>C)	.	.	0.992535761479193	0.652
18	32386270	T	G	18	34806306	y	y	splicing	DTNA(NM_001198945:exon6:c.448+2T>G;NM_001392:exon6:c.448+2T>G;NM_032975:exon6:c.448+2T>G;NM_032979:exon6:c.448+2T>G;NM_001198940:exon6:c.448+2T>G;NM_001198939:exon6:c.448+2T>G;NM_001198938:exon6:c.448+2T>G;NM_001128175:exon6:c.448+2T>G;NM_001198941:exon5:c.448+2T>G;NM_032978:exon5:c.448+2T>G;NM_001391:exon4:c.448+2T>G;NM_001390:exon4:c.448+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon6:c.448+2T>G;ENST00000596745:exon6:c.448+2T>G;ENST00000315456:exon6:c.448+2T>G;ENST00000598334:exon6:c.448+2T>G;ENST00000399121:exon6:c.448+2T>G;ENST00000554864:exon6:c.448+2T>G;ENST00000269190:exon6:c.448+2T>G;ENST00000595022:exon6:c.448+2T>G;ENST00000598142:exon5:c.448+2T>G;ENST00000598774:exon5:c.448+2T>G;ENST00000348997:exon5:c.448+2T>G;ENST00000597599:exon5:c.448+2T>G;ENST00000269191:exon4:c.448+2T>G;ENST00000444659:exon4:c.448+2T>G;ENST00000399113:exon4:c.448+2T>G)	.	.	0.999989917668626	0.926
18	32386271	A	C	18	34806307	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999497455173187	0.826
18	32386271	A	G	18	34806307	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.230984232588074	0.428
18	32386271	A	T	18	34806307	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999725480761432	0.882
18	32386272	A	C	18	34806308	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997973392274292	0.932
18	32386272	A	G	18	34806308	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997976821934102	0.986
18	32386272	A	T	18	34806308	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998143204167994	0.95
18	32386273	G	A	18	34806309	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999957655984881	0.98
18	32386273	G	C	18	34806309	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998770071619323	0.912
18	32386273	G	T	18	34806309	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999972169847784	0.996
18	32386274	T	A	18	34806310	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.995143923799815	0.758
18	32386274	T	C	18	34806310	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.950808123043097	0.644
18	32386274	T	G	18	34806310	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.846221454763449	0.58
18	32386275	T	A	18	34806311	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.68837067166931E-5	0.0
18	32386275	T	C	18	34806311	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.74303611891726E-5	0.01
18	32386275	T	G	18	34806311	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.74303611891726E-5	0.008
18	32386276	A	C	18	34806312	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.41691284278849E-5	0.0
18	32386276	A	G	18	34806312	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.41691284278849E-5	0.0
18	32386276	A	T	18	34806312	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.44312574922614E-5	0.0
18	32391911	T	A	18	34811947	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0254044306852747	0.216
18	32391911	T	C	18	34811947	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.44890633350916E-4	0.026
18	32391911	T	G	18	34811947	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0239314984612626	0.166
18	32391912	C	A	18	34811948	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0167129598475765	0.134
18	32391912	C	G	18	34811948	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.38106680564611E-4	0.02
18	32391912	C	T	18	34811948	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.58381954038957E-4	0.03
18	32391913	C	A	18	34811949	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.04932842141612E-4	0.05
18	32391913	C	G	18	34811949	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.56207697795923E-4	0.038
18	32391913	C	T	18	34811949	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.20293438716417E-5	0.01
18	32391914	T	A	18	34811950	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00708854829393067	0.242
18	32391914	T	C	18	34811950	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.97310180952419E-4	0.064
18	32391914	T	G	18	34811950	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00445635846691935	0.174
18	32391915	T	A	18	34811951	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00177809529411444	0.112
18	32391915	T	C	18	34811951	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.81678119140003E-5	0.016
18	32391915	T	G	18	34811951	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.12998302314823E-4	0.058
18	32391916	T	A	18	34811952	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00688055193292932	0.124
18	32391916	T	C	18	34811952	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.12533608470667E-5	0.002
18	32391916	T	G	18	34811952	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00499105697738745	0.15
18	32391917	C	A	18	34811953	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00178126015234098	0.128
18	32391917	C	G	18	34811953	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00177629676173311	0.1
18	32391917	C	T	18	34811953	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.99356005113437E-5	0.0
18	32391918	A	C	18	34811954	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.02801029907331E-5	0.006
18	32391918	A	G	18	34811954	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.53893069612392E-5	0.022
18	32391918	A	T	18	34811954	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.01271483788305E-5	0.004
18	32391919	T	A	18	34811955	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.18407458561784E-5	0.0
18	32391919	T	C	18	34811955	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.30191427822196E-5	0.0
18	32391919	T	G	18	34811955	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.344917813845312	0.516
18	32391920	C	A	18	34811956	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.549220116799444	0.462
18	32391920	C	G	18	34811956	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999420636949691	0.944
18	32391920	C	T	18	34811956	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.12322499388657E-4	0.026
18	32391921	A	C	18	34811957	y	y	splicing	DTNA(NM_001198945:exon7:c.449-2A>C;NM_001392:exon7:c.449-2A>C;NM_032975:exon7:c.449-2A>C;NM_032979:exon7:c.449-2A>C;NM_001198940:exon7:c.449-2A>C;NM_001198939:exon7:c.449-2A>C;NM_001198938:exon7:c.449-2A>C;NM_001128175:exon7:c.449-2A>C;NM_001198941:exon6:c.449-2A>C;NM_032978:exon6:c.449-2A>C;NM_001391:exon5:c.449-2A>C;NM_001390:exon5:c.449-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.449-2A>C;ENST00000596745:exon7:c.449-2A>C;ENST00000315456:exon7:c.449-2A>C;ENST00000598334:exon7:c.449-2A>C;ENST00000399121:exon7:c.449-2A>C;ENST00000554864:exon7:c.449-2A>C;ENST00000269190:exon7:c.449-2A>C;ENST00000595022:exon7:c.449-2A>C;ENST00000598142:exon6:c.449-2A>C;ENST00000598774:exon6:c.449-2A>C;ENST00000348997:exon6:c.449-2A>C;ENST00000597599:exon6:c.449-2A>C;ENST00000269191:exon5:c.449-2A>C;ENST00000444659:exon5:c.449-2A>C;ENST00000399113:exon5:c.449-2A>C)	.	.	0.999988247793601	0.93
18	32391921	A	G	18	34811957	y	y	splicing	DTNA(NM_001198945:exon7:c.449-2A>G;NM_001392:exon7:c.449-2A>G;NM_032975:exon7:c.449-2A>G;NM_032979:exon7:c.449-2A>G;NM_001198940:exon7:c.449-2A>G;NM_001198939:exon7:c.449-2A>G;NM_001198938:exon7:c.449-2A>G;NM_001128175:exon7:c.449-2A>G;NM_001198941:exon6:c.449-2A>G;NM_032978:exon6:c.449-2A>G;NM_001391:exon5:c.449-2A>G;NM_001390:exon5:c.449-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.449-2A>G;ENST00000596745:exon7:c.449-2A>G;ENST00000315456:exon7:c.449-2A>G;ENST00000598334:exon7:c.449-2A>G;ENST00000399121:exon7:c.449-2A>G;ENST00000554864:exon7:c.449-2A>G;ENST00000269190:exon7:c.449-2A>G;ENST00000595022:exon7:c.449-2A>G;ENST00000598142:exon6:c.449-2A>G;ENST00000598774:exon6:c.449-2A>G;ENST00000348997:exon6:c.449-2A>G;ENST00000597599:exon6:c.449-2A>G;ENST00000269191:exon5:c.449-2A>G;ENST00000444659:exon5:c.449-2A>G;ENST00000399113:exon5:c.449-2A>G)	.	.	0.999988247793601	0.93
18	32391921	A	T	18	34811957	y	y	splicing	DTNA(NM_001198945:exon7:c.449-2A>T;NM_001392:exon7:c.449-2A>T;NM_032975:exon7:c.449-2A>T;NM_032979:exon7:c.449-2A>T;NM_001198940:exon7:c.449-2A>T;NM_001198939:exon7:c.449-2A>T;NM_001198938:exon7:c.449-2A>T;NM_001128175:exon7:c.449-2A>T;NM_001198941:exon6:c.449-2A>T;NM_032978:exon6:c.449-2A>T;NM_001391:exon5:c.449-2A>T;NM_001390:exon5:c.449-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.449-2A>T;ENST00000596745:exon7:c.449-2A>T;ENST00000315456:exon7:c.449-2A>T;ENST00000598334:exon7:c.449-2A>T;ENST00000399121:exon7:c.449-2A>T;ENST00000554864:exon7:c.449-2A>T;ENST00000269190:exon7:c.449-2A>T;ENST00000595022:exon7:c.449-2A>T;ENST00000598142:exon6:c.449-2A>T;ENST00000598774:exon6:c.449-2A>T;ENST00000348997:exon6:c.449-2A>T;ENST00000597599:exon6:c.449-2A>T;ENST00000269191:exon5:c.449-2A>T;ENST00000444659:exon5:c.449-2A>T;ENST00000399113:exon5:c.449-2A>T)	.	.	0.999988247793601	0.93
18	32391922	G	A	18	34811958	y	y	splicing	DTNA(NM_001198945:exon7:c.449-1G>A;NM_001392:exon7:c.449-1G>A;NM_032975:exon7:c.449-1G>A;NM_032979:exon7:c.449-1G>A;NM_001198940:exon7:c.449-1G>A;NM_001198939:exon7:c.449-1G>A;NM_001198938:exon7:c.449-1G>A;NM_001128175:exon7:c.449-1G>A;NM_001198941:exon6:c.449-1G>A;NM_032978:exon6:c.449-1G>A;NM_001391:exon5:c.449-1G>A;NM_001390:exon5:c.449-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.449-1G>A;ENST00000596745:exon7:c.449-1G>A;ENST00000315456:exon7:c.449-1G>A;ENST00000598334:exon7:c.449-1G>A;ENST00000399121:exon7:c.449-1G>A;ENST00000554864:exon7:c.449-1G>A;ENST00000269190:exon7:c.449-1G>A;ENST00000595022:exon7:c.449-1G>A;ENST00000598142:exon6:c.449-1G>A;ENST00000598774:exon6:c.449-1G>A;ENST00000348997:exon6:c.449-1G>A;ENST00000597599:exon6:c.449-1G>A;ENST00000269191:exon5:c.449-1G>A;ENST00000444659:exon5:c.449-1G>A;ENST00000399113:exon5:c.449-1G>A)	.	.	0.999989072007339	0.934
18	32391922	G	C	18	34811958	y	y	splicing	DTNA(NM_001198945:exon7:c.449-1G>C;NM_001392:exon7:c.449-1G>C;NM_032975:exon7:c.449-1G>C;NM_032979:exon7:c.449-1G>C;NM_001198940:exon7:c.449-1G>C;NM_001198939:exon7:c.449-1G>C;NM_001198938:exon7:c.449-1G>C;NM_001128175:exon7:c.449-1G>C;NM_001198941:exon6:c.449-1G>C;NM_032978:exon6:c.449-1G>C;NM_001391:exon5:c.449-1G>C;NM_001390:exon5:c.449-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.449-1G>C;ENST00000596745:exon7:c.449-1G>C;ENST00000315456:exon7:c.449-1G>C;ENST00000598334:exon7:c.449-1G>C;ENST00000399121:exon7:c.449-1G>C;ENST00000554864:exon7:c.449-1G>C;ENST00000269190:exon7:c.449-1G>C;ENST00000595022:exon7:c.449-1G>C;ENST00000598142:exon6:c.449-1G>C;ENST00000598774:exon6:c.449-1G>C;ENST00000348997:exon6:c.449-1G>C;ENST00000597599:exon6:c.449-1G>C;ENST00000269191:exon5:c.449-1G>C;ENST00000444659:exon5:c.449-1G>C;ENST00000399113:exon5:c.449-1G>C)	.	.	0.999989072007339	0.934
18	32391922	G	T	18	34811958	y	y	splicing	DTNA(NM_001198945:exon7:c.449-1G>T;NM_001392:exon7:c.449-1G>T;NM_032975:exon7:c.449-1G>T;NM_032979:exon7:c.449-1G>T;NM_001198940:exon7:c.449-1G>T;NM_001198939:exon7:c.449-1G>T;NM_001198938:exon7:c.449-1G>T;NM_001128175:exon7:c.449-1G>T;NM_001198941:exon6:c.449-1G>T;NM_032978:exon6:c.449-1G>T;NM_001391:exon5:c.449-1G>T;NM_001390:exon5:c.449-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.449-1G>T;ENST00000596745:exon7:c.449-1G>T;ENST00000315456:exon7:c.449-1G>T;ENST00000598334:exon7:c.449-1G>T;ENST00000399121:exon7:c.449-1G>T;ENST00000554864:exon7:c.449-1G>T;ENST00000269190:exon7:c.449-1G>T;ENST00000595022:exon7:c.449-1G>T;ENST00000598142:exon6:c.449-1G>T;ENST00000598774:exon6:c.449-1G>T;ENST00000348997:exon6:c.449-1G>T;ENST00000597599:exon6:c.449-1G>T;ENST00000269191:exon5:c.449-1G>T;ENST00000444659:exon5:c.449-1G>T;ENST00000399113:exon5:c.449-1G>T)	.	.	0.999989072007339	0.934
18	32391923	A	C	18	34811959	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.A449C:p.Y150S;DTNA:NM_001392:exon7:c.A449C:p.Y150S;DTNA:NM_032978:exon6:c.A449C:p.Y150S;DTNA:NM_001390:exon5:c.A449C:p.Y150S;DTNA:NM_001198938:exon7:c.A449C:p.Y150S;DTNA:NM_001198945:exon7:c.A449C:p.Y150S;DTNA:NM_001391:exon5:c.A449C:p.Y150S;DTNA:NM_001128175:exon7:c.A449C:p.Y150S;DTNA:NM_001198940:exon7:c.A449C:p.Y150S;DTNA:NM_001198939:exon7:c.A449C:p.Y150S;DTNA:NM_001198941:exon6:c.A449C:p.Y150S;DTNA:NM_032975:exon7:c.A449C:p.Y150S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.A449C:p.Y150S;ENSG00000134769:ENST00000598334:exon7:c.A449C:p.Y150S;ENSG00000134769:ENST00000595022:exon7:c.A449C:p.Y150S;ENSG00000134769:ENST00000444659:exon5:c.A449C:p.Y150S;ENSG00000134769:ENST00000269191:exon5:c.A449C:p.Y150S;ENSG00000134769:ENST00000283365:exon7:c.A449C:p.Y150S;ENSG00000134769:ENST00000399113:exon5:c.A449C:p.Y150S;ENSG00000134769:ENST00000269190:exon7:c.A449C:p.Y150S;ENSG00000134769:ENST00000399121:exon7:c.A449C:p.Y150S;ENSG00000134769:ENST00000597599:exon6:c.A449C:p.Y150S;ENSG00000134769:ENST00000554864:exon7:c.A449C:p.Y150S;ENSG00000134769:ENST00000596745:exon7:c.A449C:p.Y150S;ENSG00000134769:ENST00000598774:exon6:c.A449C:p.Y150S;ENSG00000134769:ENST00000315456:exon7:c.A449C:p.Y150S;ENSG00000134769:ENST00000598142:exon6:c.A449C:p.Y150S;	0.314713702430552	0.64
18	32391923	A	G	18	34811959	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.A449G:p.Y150C;DTNA:NM_001392:exon7:c.A449G:p.Y150C;DTNA:NM_032978:exon6:c.A449G:p.Y150C;DTNA:NM_001390:exon5:c.A449G:p.Y150C;DTNA:NM_001198938:exon7:c.A449G:p.Y150C;DTNA:NM_001198945:exon7:c.A449G:p.Y150C;DTNA:NM_001391:exon5:c.A449G:p.Y150C;DTNA:NM_001128175:exon7:c.A449G:p.Y150C;DTNA:NM_001198940:exon7:c.A449G:p.Y150C;DTNA:NM_001198939:exon7:c.A449G:p.Y150C;DTNA:NM_001198941:exon6:c.A449G:p.Y150C;DTNA:NM_032975:exon7:c.A449G:p.Y150C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.A449G:p.Y150C;ENSG00000134769:ENST00000598334:exon7:c.A449G:p.Y150C;ENSG00000134769:ENST00000595022:exon7:c.A449G:p.Y150C;ENSG00000134769:ENST00000444659:exon5:c.A449G:p.Y150C;ENSG00000134769:ENST00000269191:exon5:c.A449G:p.Y150C;ENSG00000134769:ENST00000283365:exon7:c.A449G:p.Y150C;ENSG00000134769:ENST00000399113:exon5:c.A449G:p.Y150C;ENSG00000134769:ENST00000269190:exon7:c.A449G:p.Y150C;ENSG00000134769:ENST00000399121:exon7:c.A449G:p.Y150C;ENSG00000134769:ENST00000597599:exon6:c.A449G:p.Y150C;ENSG00000134769:ENST00000554864:exon7:c.A449G:p.Y150C;ENSG00000134769:ENST00000596745:exon7:c.A449G:p.Y150C;ENSG00000134769:ENST00000598774:exon6:c.A449G:p.Y150C;ENSG00000134769:ENST00000315456:exon7:c.A449G:p.Y150C;ENSG00000134769:ENST00000598142:exon6:c.A449G:p.Y150C;	0.682226800692629	0.666
18	32391923	A	T	18	34811959	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.A449T:p.Y150F;DTNA:NM_001392:exon7:c.A449T:p.Y150F;DTNA:NM_032978:exon6:c.A449T:p.Y150F;DTNA:NM_001390:exon5:c.A449T:p.Y150F;DTNA:NM_001198938:exon7:c.A449T:p.Y150F;DTNA:NM_001198945:exon7:c.A449T:p.Y150F;DTNA:NM_001391:exon5:c.A449T:p.Y150F;DTNA:NM_001128175:exon7:c.A449T:p.Y150F;DTNA:NM_001198940:exon7:c.A449T:p.Y150F;DTNA:NM_001198939:exon7:c.A449T:p.Y150F;DTNA:NM_001198941:exon6:c.A449T:p.Y150F;DTNA:NM_032975:exon7:c.A449T:p.Y150F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.A449T:p.Y150F;ENSG00000134769:ENST00000598334:exon7:c.A449T:p.Y150F;ENSG00000134769:ENST00000595022:exon7:c.A449T:p.Y150F;ENSG00000134769:ENST00000444659:exon5:c.A449T:p.Y150F;ENSG00000134769:ENST00000269191:exon5:c.A449T:p.Y150F;ENSG00000134769:ENST00000283365:exon7:c.A449T:p.Y150F;ENSG00000134769:ENST00000399113:exon5:c.A449T:p.Y150F;ENSG00000134769:ENST00000269190:exon7:c.A449T:p.Y150F;ENSG00000134769:ENST00000399121:exon7:c.A449T:p.Y150F;ENSG00000134769:ENST00000597599:exon6:c.A449T:p.Y150F;ENSG00000134769:ENST00000554864:exon7:c.A449T:p.Y150F;ENSG00000134769:ENST00000596745:exon7:c.A449T:p.Y150F;ENSG00000134769:ENST00000598774:exon6:c.A449T:p.Y150F;ENSG00000134769:ENST00000315456:exon7:c.A449T:p.Y150F;ENSG00000134769:ENST00000598142:exon6:c.A449T:p.Y150F;	0.395915145127354	0.542
18	32391924	T	A	18	34811960	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon7:c.T450A:p.Y150X;DTNA:NM_001392:exon7:c.T450A:p.Y150X;DTNA:NM_032978:exon6:c.T450A:p.Y150X;DTNA:NM_001390:exon5:c.T450A:p.Y150X;DTNA:NM_001198938:exon7:c.T450A:p.Y150X;DTNA:NM_001198945:exon7:c.T450A:p.Y150X;DTNA:NM_001391:exon5:c.T450A:p.Y150X;DTNA:NM_001128175:exon7:c.T450A:p.Y150X;DTNA:NM_001198940:exon7:c.T450A:p.Y150X;DTNA:NM_001198939:exon7:c.T450A:p.Y150X;DTNA:NM_001198941:exon6:c.T450A:p.Y150X;DTNA:NM_032975:exon7:c.T450A:p.Y150X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon6:c.T450A:p.Y150X;ENSG00000134769:ENST00000598334:exon7:c.T450A:p.Y150X;ENSG00000134769:ENST00000595022:exon7:c.T450A:p.Y150X;ENSG00000134769:ENST00000444659:exon5:c.T450A:p.Y150X;ENSG00000134769:ENST00000269191:exon5:c.T450A:p.Y150X;ENSG00000134769:ENST00000283365:exon7:c.T450A:p.Y150X;ENSG00000134769:ENST00000399113:exon5:c.T450A:p.Y150X;ENSG00000134769:ENST00000269190:exon7:c.T450A:p.Y150X;ENSG00000134769:ENST00000399121:exon7:c.T450A:p.Y150X;ENSG00000134769:ENST00000597599:exon6:c.T450A:p.Y150X;ENSG00000134769:ENST00000554864:exon7:c.T450A:p.Y150X;ENSG00000134769:ENST00000596745:exon7:c.T450A:p.Y150X;ENSG00000134769:ENST00000598774:exon6:c.T450A:p.Y150X;ENSG00000134769:ENST00000315456:exon7:c.T450A:p.Y150X;ENSG00000134769:ENST00000598142:exon6:c.T450A:p.Y150X;	0.294390899718973	0.546
18	32391924	T	C	18	34811960	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon7:c.T450C:p.Y150Y;DTNA:NM_001392:exon7:c.T450C:p.Y150Y;DTNA:NM_032978:exon6:c.T450C:p.Y150Y;DTNA:NM_001390:exon5:c.T450C:p.Y150Y;DTNA:NM_001198938:exon7:c.T450C:p.Y150Y;DTNA:NM_001198945:exon7:c.T450C:p.Y150Y;DTNA:NM_001391:exon5:c.T450C:p.Y150Y;DTNA:NM_001128175:exon7:c.T450C:p.Y150Y;DTNA:NM_001198940:exon7:c.T450C:p.Y150Y;DTNA:NM_001198939:exon7:c.T450C:p.Y150Y;DTNA:NM_001198941:exon6:c.T450C:p.Y150Y;DTNA:NM_032975:exon7:c.T450C:p.Y150Y;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.T450C:p.Y150Y;ENSG00000134769:ENST00000598334:exon7:c.T450C:p.Y150Y;ENSG00000134769:ENST00000595022:exon7:c.T450C:p.Y150Y;ENSG00000134769:ENST00000444659:exon5:c.T450C:p.Y150Y;ENSG00000134769:ENST00000269191:exon5:c.T450C:p.Y150Y;ENSG00000134769:ENST00000283365:exon7:c.T450C:p.Y150Y;ENSG00000134769:ENST00000399113:exon5:c.T450C:p.Y150Y;ENSG00000134769:ENST00000269190:exon7:c.T450C:p.Y150Y;ENSG00000134769:ENST00000399121:exon7:c.T450C:p.Y150Y;ENSG00000134769:ENST00000597599:exon6:c.T450C:p.Y150Y;ENSG00000134769:ENST00000554864:exon7:c.T450C:p.Y150Y;ENSG00000134769:ENST00000596745:exon7:c.T450C:p.Y150Y;ENSG00000134769:ENST00000598774:exon6:c.T450C:p.Y150Y;ENSG00000134769:ENST00000315456:exon7:c.T450C:p.Y150Y;ENSG00000134769:ENST00000598142:exon6:c.T450C:p.Y150Y;	0.0146498075513891	0.214
18	32391924	T	G	18	34811960	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon7:c.T450G:p.Y150X;DTNA:NM_001392:exon7:c.T450G:p.Y150X;DTNA:NM_032978:exon6:c.T450G:p.Y150X;DTNA:NM_001390:exon5:c.T450G:p.Y150X;DTNA:NM_001198938:exon7:c.T450G:p.Y150X;DTNA:NM_001198945:exon7:c.T450G:p.Y150X;DTNA:NM_001391:exon5:c.T450G:p.Y150X;DTNA:NM_001128175:exon7:c.T450G:p.Y150X;DTNA:NM_001198940:exon7:c.T450G:p.Y150X;DTNA:NM_001198939:exon7:c.T450G:p.Y150X;DTNA:NM_001198941:exon6:c.T450G:p.Y150X;DTNA:NM_032975:exon7:c.T450G:p.Y150X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon6:c.T450G:p.Y150X;ENSG00000134769:ENST00000598334:exon7:c.T450G:p.Y150X;ENSG00000134769:ENST00000595022:exon7:c.T450G:p.Y150X;ENSG00000134769:ENST00000444659:exon5:c.T450G:p.Y150X;ENSG00000134769:ENST00000269191:exon5:c.T450G:p.Y150X;ENSG00000134769:ENST00000283365:exon7:c.T450G:p.Y150X;ENSG00000134769:ENST00000399113:exon5:c.T450G:p.Y150X;ENSG00000134769:ENST00000269190:exon7:c.T450G:p.Y150X;ENSG00000134769:ENST00000399121:exon7:c.T450G:p.Y150X;ENSG00000134769:ENST00000597599:exon6:c.T450G:p.Y150X;ENSG00000134769:ENST00000554864:exon7:c.T450G:p.Y150X;ENSG00000134769:ENST00000596745:exon7:c.T450G:p.Y150X;ENSG00000134769:ENST00000598774:exon6:c.T450G:p.Y150X;ENSG00000134769:ENST00000315456:exon7:c.T450G:p.Y150X;ENSG00000134769:ENST00000598142:exon6:c.T450G:p.Y150X;	0.34517057470876	0.562
18	32392075	C	A	18	34812111	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.C601A:p.Q201K;DTNA:NM_001392:exon7:c.C601A:p.Q201K;DTNA:NM_032978:exon6:c.C601A:p.Q201K;DTNA:NM_001390:exon5:c.C601A:p.Q201K;DTNA:NM_001198938:exon7:c.C601A:p.Q201K;DTNA:NM_001198945:exon7:c.C601A:p.Q201K;DTNA:NM_001391:exon5:c.C601A:p.Q201K;DTNA:NM_001128175:exon7:c.C601A:p.Q201K;DTNA:NM_001198940:exon7:c.C601A:p.Q201K;DTNA:NM_001198939:exon7:c.C601A:p.Q201K;DTNA:NM_001198941:exon6:c.C601A:p.Q201K;DTNA:NM_032975:exon7:c.C601A:p.Q201K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.C601A:p.Q201K;ENSG00000134769:ENST00000598334:exon7:c.C601A:p.Q201K;ENSG00000134769:ENST00000595022:exon7:c.C601A:p.Q201K;ENSG00000134769:ENST00000444659:exon5:c.C601A:p.Q201K;ENSG00000134769:ENST00000269191:exon5:c.C601A:p.Q201K;ENSG00000134769:ENST00000283365:exon7:c.C601A:p.Q201K;ENSG00000134769:ENST00000399113:exon5:c.C601A:p.Q201K;ENSG00000134769:ENST00000269190:exon7:c.C601A:p.Q201K;ENSG00000134769:ENST00000399121:exon7:c.C601A:p.Q201K;ENSG00000134769:ENST00000597599:exon6:c.C601A:p.Q201K;ENSG00000134769:ENST00000554864:exon7:c.C601A:p.Q201K;ENSG00000134769:ENST00000596745:exon7:c.C601A:p.Q201K;ENSG00000134769:ENST00000598774:exon6:c.C601A:p.Q201K;ENSG00000134769:ENST00000315456:exon7:c.C601A:p.Q201K;ENSG00000134769:ENST00000598142:exon6:c.C601A:p.Q201K;	0.943749686478024	0.802
18	32392075	C	G	18	34812111	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.C601G:p.Q201E;DTNA:NM_001392:exon7:c.C601G:p.Q201E;DTNA:NM_032978:exon6:c.C601G:p.Q201E;DTNA:NM_001390:exon5:c.C601G:p.Q201E;DTNA:NM_001198938:exon7:c.C601G:p.Q201E;DTNA:NM_001198945:exon7:c.C601G:p.Q201E;DTNA:NM_001391:exon5:c.C601G:p.Q201E;DTNA:NM_001128175:exon7:c.C601G:p.Q201E;DTNA:NM_001198940:exon7:c.C601G:p.Q201E;DTNA:NM_001198939:exon7:c.C601G:p.Q201E;DTNA:NM_001198941:exon6:c.C601G:p.Q201E;DTNA:NM_032975:exon7:c.C601G:p.Q201E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.C601G:p.Q201E;ENSG00000134769:ENST00000598334:exon7:c.C601G:p.Q201E;ENSG00000134769:ENST00000595022:exon7:c.C601G:p.Q201E;ENSG00000134769:ENST00000444659:exon5:c.C601G:p.Q201E;ENSG00000134769:ENST00000269191:exon5:c.C601G:p.Q201E;ENSG00000134769:ENST00000283365:exon7:c.C601G:p.Q201E;ENSG00000134769:ENST00000399113:exon5:c.C601G:p.Q201E;ENSG00000134769:ENST00000269190:exon7:c.C601G:p.Q201E;ENSG00000134769:ENST00000399121:exon7:c.C601G:p.Q201E;ENSG00000134769:ENST00000597599:exon6:c.C601G:p.Q201E;ENSG00000134769:ENST00000554864:exon7:c.C601G:p.Q201E;ENSG00000134769:ENST00000596745:exon7:c.C601G:p.Q201E;ENSG00000134769:ENST00000598774:exon6:c.C601G:p.Q201E;ENSG00000134769:ENST00000315456:exon7:c.C601G:p.Q201E;ENSG00000134769:ENST00000598142:exon6:c.C601G:p.Q201E;	0.967114680913323	0.622
18	32392075	C	T	18	34812111	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon7:c.C601T:p.Q201X;DTNA:NM_001392:exon7:c.C601T:p.Q201X;DTNA:NM_032978:exon6:c.C601T:p.Q201X;DTNA:NM_001390:exon5:c.C601T:p.Q201X;DTNA:NM_001198938:exon7:c.C601T:p.Q201X;DTNA:NM_001198945:exon7:c.C601T:p.Q201X;DTNA:NM_001391:exon5:c.C601T:p.Q201X;DTNA:NM_001128175:exon7:c.C601T:p.Q201X;DTNA:NM_001198940:exon7:c.C601T:p.Q201X;DTNA:NM_001198939:exon7:c.C601T:p.Q201X;DTNA:NM_001198941:exon6:c.C601T:p.Q201X;DTNA:NM_032975:exon7:c.C601T:p.Q201X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon6:c.C601T:p.Q201X;ENSG00000134769:ENST00000598334:exon7:c.C601T:p.Q201X;ENSG00000134769:ENST00000595022:exon7:c.C601T:p.Q201X;ENSG00000134769:ENST00000444659:exon5:c.C601T:p.Q201X;ENSG00000134769:ENST00000269191:exon5:c.C601T:p.Q201X;ENSG00000134769:ENST00000283365:exon7:c.C601T:p.Q201X;ENSG00000134769:ENST00000399113:exon5:c.C601T:p.Q201X;ENSG00000134769:ENST00000269190:exon7:c.C601T:p.Q201X;ENSG00000134769:ENST00000399121:exon7:c.C601T:p.Q201X;ENSG00000134769:ENST00000597599:exon6:c.C601T:p.Q201X;ENSG00000134769:ENST00000554864:exon7:c.C601T:p.Q201X;ENSG00000134769:ENST00000596745:exon7:c.C601T:p.Q201X;ENSG00000134769:ENST00000598774:exon6:c.C601T:p.Q201X;ENSG00000134769:ENST00000315456:exon7:c.C601T:p.Q201X;ENSG00000134769:ENST00000598142:exon6:c.C601T:p.Q201X;	0.999441129994071	0.952
18	32392076	A	C	18	34812112	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.A602C:p.Q201P;DTNA:NM_001392:exon7:c.A602C:p.Q201P;DTNA:NM_032978:exon6:c.A602C:p.Q201P;DTNA:NM_001390:exon5:c.A602C:p.Q201P;DTNA:NM_001198938:exon7:c.A602C:p.Q201P;DTNA:NM_001198945:exon7:c.A602C:p.Q201P;DTNA:NM_001391:exon5:c.A602C:p.Q201P;DTNA:NM_001128175:exon7:c.A602C:p.Q201P;DTNA:NM_001198940:exon7:c.A602C:p.Q201P;DTNA:NM_001198939:exon7:c.A602C:p.Q201P;DTNA:NM_001198941:exon6:c.A602C:p.Q201P;DTNA:NM_032975:exon7:c.A602C:p.Q201P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.A602C:p.Q201P;ENSG00000134769:ENST00000598334:exon7:c.A602C:p.Q201P;ENSG00000134769:ENST00000595022:exon7:c.A602C:p.Q201P;ENSG00000134769:ENST00000444659:exon5:c.A602C:p.Q201P;ENSG00000134769:ENST00000269191:exon5:c.A602C:p.Q201P;ENSG00000134769:ENST00000283365:exon7:c.A602C:p.Q201P;ENSG00000134769:ENST00000399113:exon5:c.A602C:p.Q201P;ENSG00000134769:ENST00000269190:exon7:c.A602C:p.Q201P;ENSG00000134769:ENST00000399121:exon7:c.A602C:p.Q201P;ENSG00000134769:ENST00000597599:exon6:c.A602C:p.Q201P;ENSG00000134769:ENST00000554864:exon7:c.A602C:p.Q201P;ENSG00000134769:ENST00000596745:exon7:c.A602C:p.Q201P;ENSG00000134769:ENST00000598774:exon6:c.A602C:p.Q201P;ENSG00000134769:ENST00000315456:exon7:c.A602C:p.Q201P;ENSG00000134769:ENST00000598142:exon6:c.A602C:p.Q201P;	0.999721745707038	0.972
18	32392076	A	G	18	34812112	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.A602G:p.Q201R;DTNA:NM_001392:exon7:c.A602G:p.Q201R;DTNA:NM_032978:exon6:c.A602G:p.Q201R;DTNA:NM_001390:exon5:c.A602G:p.Q201R;DTNA:NM_001198938:exon7:c.A602G:p.Q201R;DTNA:NM_001198945:exon7:c.A602G:p.Q201R;DTNA:NM_001391:exon5:c.A602G:p.Q201R;DTNA:NM_001128175:exon7:c.A602G:p.Q201R;DTNA:NM_001198940:exon7:c.A602G:p.Q201R;DTNA:NM_001198939:exon7:c.A602G:p.Q201R;DTNA:NM_001198941:exon6:c.A602G:p.Q201R;DTNA:NM_032975:exon7:c.A602G:p.Q201R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.A602G:p.Q201R;ENSG00000134769:ENST00000598334:exon7:c.A602G:p.Q201R;ENSG00000134769:ENST00000595022:exon7:c.A602G:p.Q201R;ENSG00000134769:ENST00000444659:exon5:c.A602G:p.Q201R;ENSG00000134769:ENST00000269191:exon5:c.A602G:p.Q201R;ENSG00000134769:ENST00000283365:exon7:c.A602G:p.Q201R;ENSG00000134769:ENST00000399113:exon5:c.A602G:p.Q201R;ENSG00000134769:ENST00000269190:exon7:c.A602G:p.Q201R;ENSG00000134769:ENST00000399121:exon7:c.A602G:p.Q201R;ENSG00000134769:ENST00000597599:exon6:c.A602G:p.Q201R;ENSG00000134769:ENST00000554864:exon7:c.A602G:p.Q201R;ENSG00000134769:ENST00000596745:exon7:c.A602G:p.Q201R;ENSG00000134769:ENST00000598774:exon6:c.A602G:p.Q201R;ENSG00000134769:ENST00000315456:exon7:c.A602G:p.Q201R;ENSG00000134769:ENST00000598142:exon6:c.A602G:p.Q201R;	0.999795903168881	0.99
18	32392076	A	T	18	34812112	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.A602T:p.Q201L;DTNA:NM_001392:exon7:c.A602T:p.Q201L;DTNA:NM_032978:exon6:c.A602T:p.Q201L;DTNA:NM_001390:exon5:c.A602T:p.Q201L;DTNA:NM_001198938:exon7:c.A602T:p.Q201L;DTNA:NM_001198945:exon7:c.A602T:p.Q201L;DTNA:NM_001391:exon5:c.A602T:p.Q201L;DTNA:NM_001128175:exon7:c.A602T:p.Q201L;DTNA:NM_001198940:exon7:c.A602T:p.Q201L;DTNA:NM_001198939:exon7:c.A602T:p.Q201L;DTNA:NM_001198941:exon6:c.A602T:p.Q201L;DTNA:NM_032975:exon7:c.A602T:p.Q201L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.A602T:p.Q201L;ENSG00000134769:ENST00000598334:exon7:c.A602T:p.Q201L;ENSG00000134769:ENST00000595022:exon7:c.A602T:p.Q201L;ENSG00000134769:ENST00000444659:exon5:c.A602T:p.Q201L;ENSG00000134769:ENST00000269191:exon5:c.A602T:p.Q201L;ENSG00000134769:ENST00000283365:exon7:c.A602T:p.Q201L;ENSG00000134769:ENST00000399113:exon5:c.A602T:p.Q201L;ENSG00000134769:ENST00000269190:exon7:c.A602T:p.Q201L;ENSG00000134769:ENST00000399121:exon7:c.A602T:p.Q201L;ENSG00000134769:ENST00000597599:exon6:c.A602T:p.Q201L;ENSG00000134769:ENST00000554864:exon7:c.A602T:p.Q201L;ENSG00000134769:ENST00000596745:exon7:c.A602T:p.Q201L;ENSG00000134769:ENST00000598774:exon6:c.A602T:p.Q201L;ENSG00000134769:ENST00000315456:exon7:c.A602T:p.Q201L;ENSG00000134769:ENST00000598142:exon6:c.A602T:p.Q201L;	0.999880865264603	0.996
18	32392077	G	A	18	34812113	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon7:c.G603A:p.Q201Q;DTNA:NM_001392:exon7:c.G603A:p.Q201Q;DTNA:NM_032978:exon6:c.G603A:p.Q201Q;DTNA:NM_001390:exon5:c.G603A:p.Q201Q;DTNA:NM_001198938:exon7:c.G603A:p.Q201Q;DTNA:NM_001198945:exon7:c.G603A:p.Q201Q;DTNA:NM_001391:exon5:c.G603A:p.Q201Q;DTNA:NM_001128175:exon7:c.G603A:p.Q201Q;DTNA:NM_001198940:exon7:c.G603A:p.Q201Q;DTNA:NM_001198939:exon7:c.G603A:p.Q201Q;DTNA:NM_001198941:exon6:c.G603A:p.Q201Q;DTNA:NM_032975:exon7:c.G603A:p.Q201Q;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.G603A:p.Q201Q;ENSG00000134769:ENST00000598334:exon7:c.G603A:p.Q201Q;ENSG00000134769:ENST00000595022:exon7:c.G603A:p.Q201Q;ENSG00000134769:ENST00000444659:exon5:c.G603A:p.Q201Q;ENSG00000134769:ENST00000269191:exon5:c.G603A:p.Q201Q;ENSG00000134769:ENST00000283365:exon7:c.G603A:p.Q201Q;ENSG00000134769:ENST00000399113:exon5:c.G603A:p.Q201Q;ENSG00000134769:ENST00000269190:exon7:c.G603A:p.Q201Q;ENSG00000134769:ENST00000399121:exon7:c.G603A:p.Q201Q;ENSG00000134769:ENST00000597599:exon6:c.G603A:p.Q201Q;ENSG00000134769:ENST00000554864:exon7:c.G603A:p.Q201Q;ENSG00000134769:ENST00000596745:exon7:c.G603A:p.Q201Q;ENSG00000134769:ENST00000598774:exon6:c.G603A:p.Q201Q;ENSG00000134769:ENST00000315456:exon7:c.G603A:p.Q201Q;ENSG00000134769:ENST00000598142:exon6:c.G603A:p.Q201Q;	0.999920821336662	0.996
18	32392077	G	C	18	34812113	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.G603C:p.Q201H;DTNA:NM_001392:exon7:c.G603C:p.Q201H;DTNA:NM_032978:exon6:c.G603C:p.Q201H;DTNA:NM_001390:exon5:c.G603C:p.Q201H;DTNA:NM_001198938:exon7:c.G603C:p.Q201H;DTNA:NM_001198945:exon7:c.G603C:p.Q201H;DTNA:NM_001391:exon5:c.G603C:p.Q201H;DTNA:NM_001128175:exon7:c.G603C:p.Q201H;DTNA:NM_001198940:exon7:c.G603C:p.Q201H;DTNA:NM_001198939:exon7:c.G603C:p.Q201H;DTNA:NM_001198941:exon6:c.G603C:p.Q201H;DTNA:NM_032975:exon7:c.G603C:p.Q201H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.G603C:p.Q201H;ENSG00000134769:ENST00000598334:exon7:c.G603C:p.Q201H;ENSG00000134769:ENST00000595022:exon7:c.G603C:p.Q201H;ENSG00000134769:ENST00000444659:exon5:c.G603C:p.Q201H;ENSG00000134769:ENST00000269191:exon5:c.G603C:p.Q201H;ENSG00000134769:ENST00000283365:exon7:c.G603C:p.Q201H;ENSG00000134769:ENST00000399113:exon5:c.G603C:p.Q201H;ENSG00000134769:ENST00000269190:exon7:c.G603C:p.Q201H;ENSG00000134769:ENST00000399121:exon7:c.G603C:p.Q201H;ENSG00000134769:ENST00000597599:exon6:c.G603C:p.Q201H;ENSG00000134769:ENST00000554864:exon7:c.G603C:p.Q201H;ENSG00000134769:ENST00000596745:exon7:c.G603C:p.Q201H;ENSG00000134769:ENST00000598774:exon6:c.G603C:p.Q201H;ENSG00000134769:ENST00000315456:exon7:c.G603C:p.Q201H;ENSG00000134769:ENST00000598142:exon6:c.G603C:p.Q201H;	0.999997038030613	0.994
18	32392077	G	T	18	34812113	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon7:c.G603T:p.Q201H;DTNA:NM_001392:exon7:c.G603T:p.Q201H;DTNA:NM_032978:exon6:c.G603T:p.Q201H;DTNA:NM_001390:exon5:c.G603T:p.Q201H;DTNA:NM_001198938:exon7:c.G603T:p.Q201H;DTNA:NM_001198945:exon7:c.G603T:p.Q201H;DTNA:NM_001391:exon5:c.G603T:p.Q201H;DTNA:NM_001128175:exon7:c.G603T:p.Q201H;DTNA:NM_001198940:exon7:c.G603T:p.Q201H;DTNA:NM_001198939:exon7:c.G603T:p.Q201H;DTNA:NM_001198941:exon6:c.G603T:p.Q201H;DTNA:NM_032975:exon7:c.G603T:p.Q201H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon6:c.G603T:p.Q201H;ENSG00000134769:ENST00000598334:exon7:c.G603T:p.Q201H;ENSG00000134769:ENST00000595022:exon7:c.G603T:p.Q201H;ENSG00000134769:ENST00000444659:exon5:c.G603T:p.Q201H;ENSG00000134769:ENST00000269191:exon5:c.G603T:p.Q201H;ENSG00000134769:ENST00000283365:exon7:c.G603T:p.Q201H;ENSG00000134769:ENST00000399113:exon5:c.G603T:p.Q201H;ENSG00000134769:ENST00000269190:exon7:c.G603T:p.Q201H;ENSG00000134769:ENST00000399121:exon7:c.G603T:p.Q201H;ENSG00000134769:ENST00000597599:exon6:c.G603T:p.Q201H;ENSG00000134769:ENST00000554864:exon7:c.G603T:p.Q201H;ENSG00000134769:ENST00000596745:exon7:c.G603T:p.Q201H;ENSG00000134769:ENST00000598774:exon6:c.G603T:p.Q201H;ENSG00000134769:ENST00000315456:exon7:c.G603T:p.Q201H;ENSG00000134769:ENST00000598142:exon6:c.G603T:p.Q201H;	0.999990067529978	1.0
18	32392078	G	A	18	34812114	y	y	splicing	DTNA(NM_001198945:exon7:c.603+1G>A;NM_001392:exon7:c.603+1G>A;NM_032975:exon7:c.603+1G>A;NM_032979:exon7:c.603+1G>A;NM_001198940:exon7:c.603+1G>A;NM_001198939:exon7:c.603+1G>A;NM_001198938:exon7:c.603+1G>A;NM_001128175:exon7:c.603+1G>A;NM_001198941:exon6:c.603+1G>A;NM_032978:exon6:c.603+1G>A;NM_001391:exon5:c.603+1G>A;NM_001390:exon5:c.603+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.603+1G>A;ENST00000596745:exon7:c.603+1G>A;ENST00000315456:exon7:c.603+1G>A;ENST00000598334:exon7:c.603+1G>A;ENST00000399121:exon7:c.603+1G>A;ENST00000554864:exon7:c.603+1G>A;ENST00000269190:exon7:c.603+1G>A;ENST00000595022:exon7:c.603+1G>A;ENST00000598142:exon6:c.603+1G>A;ENST00000598774:exon6:c.603+1G>A;ENST00000348997:exon6:c.603+1G>A;ENST00000597599:exon6:c.603+1G>A;ENST00000269191:exon5:c.603+1G>A;ENST00000444659:exon5:c.603+1G>A;ENST00000399113:exon5:c.603+1G>A)	.	.	0.999989072007339	0.934
18	32392078	G	C	18	34812114	y	y	splicing	DTNA(NM_001198945:exon7:c.603+1G>C;NM_001392:exon7:c.603+1G>C;NM_032975:exon7:c.603+1G>C;NM_032979:exon7:c.603+1G>C;NM_001198940:exon7:c.603+1G>C;NM_001198939:exon7:c.603+1G>C;NM_001198938:exon7:c.603+1G>C;NM_001128175:exon7:c.603+1G>C;NM_001198941:exon6:c.603+1G>C;NM_032978:exon6:c.603+1G>C;NM_001391:exon5:c.603+1G>C;NM_001390:exon5:c.603+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.603+1G>C;ENST00000596745:exon7:c.603+1G>C;ENST00000315456:exon7:c.603+1G>C;ENST00000598334:exon7:c.603+1G>C;ENST00000399121:exon7:c.603+1G>C;ENST00000554864:exon7:c.603+1G>C;ENST00000269190:exon7:c.603+1G>C;ENST00000595022:exon7:c.603+1G>C;ENST00000598142:exon6:c.603+1G>C;ENST00000598774:exon6:c.603+1G>C;ENST00000348997:exon6:c.603+1G>C;ENST00000597599:exon6:c.603+1G>C;ENST00000269191:exon5:c.603+1G>C;ENST00000444659:exon5:c.603+1G>C;ENST00000399113:exon5:c.603+1G>C)	.	.	0.999989072007339	0.934
18	32392078	G	T	18	34812114	y	y	splicing	DTNA(NM_001198945:exon7:c.603+1G>T;NM_001392:exon7:c.603+1G>T;NM_032975:exon7:c.603+1G>T;NM_032979:exon7:c.603+1G>T;NM_001198940:exon7:c.603+1G>T;NM_001198939:exon7:c.603+1G>T;NM_001198938:exon7:c.603+1G>T;NM_001128175:exon7:c.603+1G>T;NM_001198941:exon6:c.603+1G>T;NM_032978:exon6:c.603+1G>T;NM_001391:exon5:c.603+1G>T;NM_001390:exon5:c.603+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.603+1G>T;ENST00000596745:exon7:c.603+1G>T;ENST00000315456:exon7:c.603+1G>T;ENST00000598334:exon7:c.603+1G>T;ENST00000399121:exon7:c.603+1G>T;ENST00000554864:exon7:c.603+1G>T;ENST00000269190:exon7:c.603+1G>T;ENST00000595022:exon7:c.603+1G>T;ENST00000598142:exon6:c.603+1G>T;ENST00000598774:exon6:c.603+1G>T;ENST00000348997:exon6:c.603+1G>T;ENST00000597599:exon6:c.603+1G>T;ENST00000269191:exon5:c.603+1G>T;ENST00000444659:exon5:c.603+1G>T;ENST00000399113:exon5:c.603+1G>T)	.	.	0.999989072007339	0.934
18	32392079	T	A	18	34812115	y	y	splicing	DTNA(NM_001198945:exon7:c.603+2T>A;NM_001392:exon7:c.603+2T>A;NM_032975:exon7:c.603+2T>A;NM_032979:exon7:c.603+2T>A;NM_001198940:exon7:c.603+2T>A;NM_001198939:exon7:c.603+2T>A;NM_001198938:exon7:c.603+2T>A;NM_001128175:exon7:c.603+2T>A;NM_001198941:exon6:c.603+2T>A;NM_032978:exon6:c.603+2T>A;NM_001391:exon5:c.603+2T>A;NM_001390:exon5:c.603+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.603+2T>A;ENST00000596745:exon7:c.603+2T>A;ENST00000315456:exon7:c.603+2T>A;ENST00000598334:exon7:c.603+2T>A;ENST00000399121:exon7:c.603+2T>A;ENST00000554864:exon7:c.603+2T>A;ENST00000269190:exon7:c.603+2T>A;ENST00000595022:exon7:c.603+2T>A;ENST00000598142:exon6:c.603+2T>A;ENST00000598774:exon6:c.603+2T>A;ENST00000348997:exon6:c.603+2T>A;ENST00000597599:exon6:c.603+2T>A;ENST00000269191:exon5:c.603+2T>A;ENST00000444659:exon5:c.603+2T>A;ENST00000399113:exon5:c.603+2T>A)	.	.	0.999988247793601	0.93
18	32392079	T	C	18	34812115	y	y	splicing	DTNA(NM_001198945:exon7:c.603+2T>C;NM_001392:exon7:c.603+2T>C;NM_032975:exon7:c.603+2T>C;NM_032979:exon7:c.603+2T>C;NM_001198940:exon7:c.603+2T>C;NM_001198939:exon7:c.603+2T>C;NM_001198938:exon7:c.603+2T>C;NM_001128175:exon7:c.603+2T>C;NM_001198941:exon6:c.603+2T>C;NM_032978:exon6:c.603+2T>C;NM_001391:exon5:c.603+2T>C;NM_001390:exon5:c.603+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.603+2T>C;ENST00000596745:exon7:c.603+2T>C;ENST00000315456:exon7:c.603+2T>C;ENST00000598334:exon7:c.603+2T>C;ENST00000399121:exon7:c.603+2T>C;ENST00000554864:exon7:c.603+2T>C;ENST00000269190:exon7:c.603+2T>C;ENST00000595022:exon7:c.603+2T>C;ENST00000598142:exon6:c.603+2T>C;ENST00000598774:exon6:c.603+2T>C;ENST00000348997:exon6:c.603+2T>C;ENST00000597599:exon6:c.603+2T>C;ENST00000269191:exon5:c.603+2T>C;ENST00000444659:exon5:c.603+2T>C;ENST00000399113:exon5:c.603+2T>C)	.	.	0.992054276455321	0.664
18	32392079	T	G	18	34812115	y	y	splicing	DTNA(NM_001198945:exon7:c.603+2T>G;NM_001392:exon7:c.603+2T>G;NM_032975:exon7:c.603+2T>G;NM_032979:exon7:c.603+2T>G;NM_001198940:exon7:c.603+2T>G;NM_001198939:exon7:c.603+2T>G;NM_001198938:exon7:c.603+2T>G;NM_001128175:exon7:c.603+2T>G;NM_001198941:exon6:c.603+2T>G;NM_032978:exon6:c.603+2T>G;NM_001391:exon5:c.603+2T>G;NM_001390:exon5:c.603+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon7:c.603+2T>G;ENST00000596745:exon7:c.603+2T>G;ENST00000315456:exon7:c.603+2T>G;ENST00000598334:exon7:c.603+2T>G;ENST00000399121:exon7:c.603+2T>G;ENST00000554864:exon7:c.603+2T>G;ENST00000269190:exon7:c.603+2T>G;ENST00000595022:exon7:c.603+2T>G;ENST00000598142:exon6:c.603+2T>G;ENST00000598774:exon6:c.603+2T>G;ENST00000348997:exon6:c.603+2T>G;ENST00000597599:exon6:c.603+2T>G;ENST00000269191:exon5:c.603+2T>G;ENST00000444659:exon5:c.603+2T>G;ENST00000399113:exon5:c.603+2T>G)	.	.	0.999988247793601	0.93
18	32392080	A	C	18	34812116	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.962951046227274	0.68
18	32392080	A	G	18	34812116	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.400133286862669	0.506
18	32392080	A	T	18	34812116	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.982822789457372	0.67
18	32392081	G	A	18	34812117	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.22159664050311E-4	0.038
18	32392081	G	C	18	34812117	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.58293274457326E-4	0.1
18	32392081	G	T	18	34812117	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.80664984696778E-4	0.038
18	32392082	G	A	18	34812118	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.853092002374352	0.632
18	32392082	G	C	18	34812118	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.996945194916206	0.772
18	32392082	G	T	18	34812118	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998611138656954	0.782
18	32392083	A	C	18	34812119	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.88298210700716E-5	0.012
18	32392083	A	G	18	34812119	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.59407252681189E-5	0.004
18	32392083	A	T	18	34812119	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.93431275401457E-5	0.008
18	32392084	G	A	18	34812120	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.54269874475575E-5	0.0
18	32392084	G	C	18	34812120	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.1849058063671E-4	0.004
18	32392084	G	T	18	34812120	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.46706626756971E-4	0.012
18	32392085	A	C	18	34812121	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.19256262104141E-4	0.0
18	32392085	A	G	18	34812121	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.25928568729471E-5	0.0
18	32392085	A	T	18	34812121	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.906811372167E-4	0.0
18	32395861	T	A	18	34815897	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.240047862055709	0.488
18	32395861	T	C	18	34815897	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00167957923183347	0.116
18	32395861	T	G	18	34815897	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0169399409281773	0.372
18	32395862	T	A	18	34815898	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.38168420210689	0.588
18	32395862	T	C	18	34815898	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00744245449980626	0.164
18	32395862	T	G	18	34815898	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0115211676078233	0.376
18	32395863	T	A	18	34815899	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0642610413230949	0.3
18	32395863	T	C	18	34815899	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.62667873949631E-4	0.19
18	32395863	T	G	18	34815899	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00692419937092415	0.23
18	32395864	T	A	18	34815900	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.152486377263346	0.46
18	32395864	T	C	18	34815900	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.64337192050384E-4	0.098
18	32395864	T	G	18	34815900	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0142914895421168	0.444
18	32395865	T	A	18	34815901	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00299267113353656	0.124
18	32395865	T	C	18	34815901	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.23976845188542E-5	0.0
18	32395865	T	G	18	34815901	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.98254184316327E-4	0.064
18	32395866	T	A	18	34815902	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0465872099608209	0.33
18	32395866	T	C	18	34815902	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.53107589954365E-4	0.038
18	32395866	T	G	18	34815902	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.119478437417766	0.266
18	32395867	A	C	18	34815903	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.67772949992902E-5	0.002
18	32395867	A	G	18	34815903	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.87680416612575E-5	0.0
18	32395867	A	T	18	34815903	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.07011217446975E-5	0.002
18	32395868	T	A	18	34815904	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.985454557952278	0.858
18	32395868	T	C	18	34815904	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00227183134395614	0.054
18	32395868	T	G	18	34815904	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998938289980352	0.89
18	32395869	G	A	18	34815905	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.3686972550152E-4	0.004
18	32395869	G	C	18	34815905	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.57029417099028E-4	0.004
18	32395869	G	T	18	34815905	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.35467174506495E-4	0.0
18	32395870	C	A	18	34815906	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997396260366075	0.796
18	32395870	C	G	18	34815906	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999787635393935	0.906
18	32395870	C	T	18	34815906	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0274556170217053	0.146
18	32395871	A	C	18	34815907	y	y	splicing	DTNA(NM_001392:exon8:c.604-2A>C;NM_032975:exon8:c.604-2A>C;NM_032979:exon8:c.604-2A>C;NM_001198940:exon8:c.604-2A>C;NM_001198939:exon8:c.604-2A>C;NM_001198938:exon8:c.604-2A>C;NM_001128175:exon8:c.604-2A>C;NM_001198941:exon7:c.604-2A>C;NM_032978:exon7:c.604-2A>C;NM_001391:exon6:c.604-2A>C;NM_001390:exon6:c.604-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.604-2A>C;ENST00000315456:exon8:c.604-2A>C;ENST00000598334:exon8:c.604-2A>C;ENST00000399121:exon8:c.604-2A>C;ENST00000554864:exon8:c.604-2A>C;ENST00000269190:exon8:c.604-2A>C;ENST00000595022:exon8:c.604-2A>C;ENST00000598142:exon7:c.604-2A>C;ENST00000598774:exon7:c.604-2A>C;ENST00000348997:exon7:c.604-2A>C;ENST00000597599:exon7:c.604-2A>C;ENST00000269191:exon6:c.604-2A>C;ENST00000444659:exon6:c.604-2A>C;ENST00000399113:exon6:c.604-2A>C)	.	.	0.999988247793601	0.946
18	32395871	A	G	18	34815907	y	y	splicing	DTNA(NM_001392:exon8:c.604-2A>G;NM_032975:exon8:c.604-2A>G;NM_032979:exon8:c.604-2A>G;NM_001198940:exon8:c.604-2A>G;NM_001198939:exon8:c.604-2A>G;NM_001198938:exon8:c.604-2A>G;NM_001128175:exon8:c.604-2A>G;NM_001198941:exon7:c.604-2A>G;NM_032978:exon7:c.604-2A>G;NM_001391:exon6:c.604-2A>G;NM_001390:exon6:c.604-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.604-2A>G;ENST00000315456:exon8:c.604-2A>G;ENST00000598334:exon8:c.604-2A>G;ENST00000399121:exon8:c.604-2A>G;ENST00000554864:exon8:c.604-2A>G;ENST00000269190:exon8:c.604-2A>G;ENST00000595022:exon8:c.604-2A>G;ENST00000598142:exon7:c.604-2A>G;ENST00000598774:exon7:c.604-2A>G;ENST00000348997:exon7:c.604-2A>G;ENST00000597599:exon7:c.604-2A>G;ENST00000269191:exon6:c.604-2A>G;ENST00000444659:exon6:c.604-2A>G;ENST00000399113:exon6:c.604-2A>G)	.	.	0.999988247793601	0.946
18	32395871	A	T	18	34815907	y	y	splicing	DTNA(NM_001392:exon8:c.604-2A>T;NM_032975:exon8:c.604-2A>T;NM_032979:exon8:c.604-2A>T;NM_001198940:exon8:c.604-2A>T;NM_001198939:exon8:c.604-2A>T;NM_001198938:exon8:c.604-2A>T;NM_001128175:exon8:c.604-2A>T;NM_001198941:exon7:c.604-2A>T;NM_032978:exon7:c.604-2A>T;NM_001391:exon6:c.604-2A>T;NM_001390:exon6:c.604-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.604-2A>T;ENST00000315456:exon8:c.604-2A>T;ENST00000598334:exon8:c.604-2A>T;ENST00000399121:exon8:c.604-2A>T;ENST00000554864:exon8:c.604-2A>T;ENST00000269190:exon8:c.604-2A>T;ENST00000595022:exon8:c.604-2A>T;ENST00000598142:exon7:c.604-2A>T;ENST00000598774:exon7:c.604-2A>T;ENST00000348997:exon7:c.604-2A>T;ENST00000597599:exon7:c.604-2A>T;ENST00000269191:exon6:c.604-2A>T;ENST00000444659:exon6:c.604-2A>T;ENST00000399113:exon6:c.604-2A>T)	.	.	0.999988247793601	0.946
18	32395872	G	A	18	34815908	y	y	splicing	DTNA(NM_001392:exon8:c.604-1G>A;NM_032975:exon8:c.604-1G>A;NM_032979:exon8:c.604-1G>A;NM_001198940:exon8:c.604-1G>A;NM_001198939:exon8:c.604-1G>A;NM_001198938:exon8:c.604-1G>A;NM_001128175:exon8:c.604-1G>A;NM_001198941:exon7:c.604-1G>A;NM_032978:exon7:c.604-1G>A;NM_001391:exon6:c.604-1G>A;NM_001390:exon6:c.604-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.604-1G>A;ENST00000315456:exon8:c.604-1G>A;ENST00000598334:exon8:c.604-1G>A;ENST00000399121:exon8:c.604-1G>A;ENST00000554864:exon8:c.604-1G>A;ENST00000269190:exon8:c.604-1G>A;ENST00000595022:exon8:c.604-1G>A;ENST00000598142:exon7:c.604-1G>A;ENST00000598774:exon7:c.604-1G>A;ENST00000348997:exon7:c.604-1G>A;ENST00000597599:exon7:c.604-1G>A;ENST00000269191:exon6:c.604-1G>A;ENST00000444659:exon6:c.604-1G>A;ENST00000399113:exon6:c.604-1G>A)	.	.	0.999989072007339	0.95
18	32395872	G	C	18	34815908	y	y	splicing	DTNA(NM_001392:exon8:c.604-1G>C;NM_032975:exon8:c.604-1G>C;NM_032979:exon8:c.604-1G>C;NM_001198940:exon8:c.604-1G>C;NM_001198939:exon8:c.604-1G>C;NM_001198938:exon8:c.604-1G>C;NM_001128175:exon8:c.604-1G>C;NM_001198941:exon7:c.604-1G>C;NM_032978:exon7:c.604-1G>C;NM_001391:exon6:c.604-1G>C;NM_001390:exon6:c.604-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.604-1G>C;ENST00000315456:exon8:c.604-1G>C;ENST00000598334:exon8:c.604-1G>C;ENST00000399121:exon8:c.604-1G>C;ENST00000554864:exon8:c.604-1G>C;ENST00000269190:exon8:c.604-1G>C;ENST00000595022:exon8:c.604-1G>C;ENST00000598142:exon7:c.604-1G>C;ENST00000598774:exon7:c.604-1G>C;ENST00000348997:exon7:c.604-1G>C;ENST00000597599:exon7:c.604-1G>C;ENST00000269191:exon6:c.604-1G>C;ENST00000444659:exon6:c.604-1G>C;ENST00000399113:exon6:c.604-1G>C)	.	.	0.999989072007339	0.95
18	32395872	G	T	18	34815908	y	y	splicing	DTNA(NM_001392:exon8:c.604-1G>T;NM_032975:exon8:c.604-1G>T;NM_032979:exon8:c.604-1G>T;NM_001198940:exon8:c.604-1G>T;NM_001198939:exon8:c.604-1G>T;NM_001198938:exon8:c.604-1G>T;NM_001128175:exon8:c.604-1G>T;NM_001198941:exon7:c.604-1G>T;NM_032978:exon7:c.604-1G>T;NM_001391:exon6:c.604-1G>T;NM_001390:exon6:c.604-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.604-1G>T;ENST00000315456:exon8:c.604-1G>T;ENST00000598334:exon8:c.604-1G>T;ENST00000399121:exon8:c.604-1G>T;ENST00000554864:exon8:c.604-1G>T;ENST00000269190:exon8:c.604-1G>T;ENST00000595022:exon8:c.604-1G>T;ENST00000598142:exon7:c.604-1G>T;ENST00000598774:exon7:c.604-1G>T;ENST00000348997:exon7:c.604-1G>T;ENST00000597599:exon7:c.604-1G>T;ENST00000269191:exon6:c.604-1G>T;ENST00000444659:exon6:c.604-1G>T;ENST00000399113:exon6:c.604-1G>T)	.	.	0.999989072007339	0.95
18	32395873	A	C	18	34815909	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.A604C:p.K202Q;DTNA:NM_001392:exon8:c.A604C:p.K202Q;DTNA:NM_032978:exon7:c.A604C:p.K202Q;DTNA:NM_001390:exon6:c.A604C:p.K202Q;DTNA:NM_001198938:exon8:c.A604C:p.K202Q;DTNA:NM_001391:exon6:c.A604C:p.K202Q;DTNA:NM_001128175:exon8:c.A604C:p.K202Q;DTNA:NM_001198940:exon8:c.A604C:p.K202Q;DTNA:NM_001198939:exon8:c.A604C:p.K202Q;DTNA:NM_001198941:exon7:c.A604C:p.K202Q;DTNA:NM_032975:exon8:c.A604C:p.K202Q;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.A604C:p.K202Q;ENSG00000134769:ENST00000598334:exon8:c.A604C:p.K202Q;ENSG00000134769:ENST00000595022:exon8:c.A604C:p.K202Q;ENSG00000134769:ENST00000444659:exon6:c.A604C:p.K202Q;ENSG00000134769:ENST00000269191:exon6:c.A604C:p.K202Q;ENSG00000134769:ENST00000283365:exon8:c.A604C:p.K202Q;ENSG00000134769:ENST00000399113:exon6:c.A604C:p.K202Q;ENSG00000134769:ENST00000269190:exon8:c.A604C:p.K202Q;ENSG00000134769:ENST00000399121:exon8:c.A604C:p.K202Q;ENSG00000134769:ENST00000597599:exon7:c.A604C:p.K202Q;ENSG00000134769:ENST00000554864:exon8:c.A604C:p.K202Q;ENSG00000134769:ENST00000598774:exon7:c.A604C:p.K202Q;ENSG00000134769:ENST00000315456:exon8:c.A604C:p.K202Q;ENSG00000134769:ENST00000598142:exon7:c.A604C:p.K202Q;	0.939782909720602	0.63
18	32395873	A	G	18	34815909	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.A604G:p.K202E;DTNA:NM_001392:exon8:c.A604G:p.K202E;DTNA:NM_032978:exon7:c.A604G:p.K202E;DTNA:NM_001390:exon6:c.A604G:p.K202E;DTNA:NM_001198938:exon8:c.A604G:p.K202E;DTNA:NM_001391:exon6:c.A604G:p.K202E;DTNA:NM_001128175:exon8:c.A604G:p.K202E;DTNA:NM_001198940:exon8:c.A604G:p.K202E;DTNA:NM_001198939:exon8:c.A604G:p.K202E;DTNA:NM_001198941:exon7:c.A604G:p.K202E;DTNA:NM_032975:exon8:c.A604G:p.K202E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.A604G:p.K202E;ENSG00000134769:ENST00000598334:exon8:c.A604G:p.K202E;ENSG00000134769:ENST00000595022:exon8:c.A604G:p.K202E;ENSG00000134769:ENST00000444659:exon6:c.A604G:p.K202E;ENSG00000134769:ENST00000269191:exon6:c.A604G:p.K202E;ENSG00000134769:ENST00000283365:exon8:c.A604G:p.K202E;ENSG00000134769:ENST00000399113:exon6:c.A604G:p.K202E;ENSG00000134769:ENST00000269190:exon8:c.A604G:p.K202E;ENSG00000134769:ENST00000399121:exon8:c.A604G:p.K202E;ENSG00000134769:ENST00000597599:exon7:c.A604G:p.K202E;ENSG00000134769:ENST00000554864:exon8:c.A604G:p.K202E;ENSG00000134769:ENST00000598774:exon7:c.A604G:p.K202E;ENSG00000134769:ENST00000315456:exon8:c.A604G:p.K202E;ENSG00000134769:ENST00000598142:exon7:c.A604G:p.K202E;	0.560148894107068	0.552
18	32395873	A	T	18	34815909	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon8:c.A604T:p.K202X;DTNA:NM_001392:exon8:c.A604T:p.K202X;DTNA:NM_032978:exon7:c.A604T:p.K202X;DTNA:NM_001390:exon6:c.A604T:p.K202X;DTNA:NM_001198938:exon8:c.A604T:p.K202X;DTNA:NM_001391:exon6:c.A604T:p.K202X;DTNA:NM_001128175:exon8:c.A604T:p.K202X;DTNA:NM_001198940:exon8:c.A604T:p.K202X;DTNA:NM_001198939:exon8:c.A604T:p.K202X;DTNA:NM_001198941:exon7:c.A604T:p.K202X;DTNA:NM_032975:exon8:c.A604T:p.K202X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon7:c.A604T:p.K202X;ENSG00000134769:ENST00000598334:exon8:c.A604T:p.K202X;ENSG00000134769:ENST00000595022:exon8:c.A604T:p.K202X;ENSG00000134769:ENST00000444659:exon6:c.A604T:p.K202X;ENSG00000134769:ENST00000269191:exon6:c.A604T:p.K202X;ENSG00000134769:ENST00000283365:exon8:c.A604T:p.K202X;ENSG00000134769:ENST00000399113:exon6:c.A604T:p.K202X;ENSG00000134769:ENST00000269190:exon8:c.A604T:p.K202X;ENSG00000134769:ENST00000399121:exon8:c.A604T:p.K202X;ENSG00000134769:ENST00000597599:exon7:c.A604T:p.K202X;ENSG00000134769:ENST00000554864:exon8:c.A604T:p.K202X;ENSG00000134769:ENST00000598774:exon7:c.A604T:p.K202X;ENSG00000134769:ENST00000315456:exon8:c.A604T:p.K202X;ENSG00000134769:ENST00000598142:exon7:c.A604T:p.K202X;	0.933339977584078	0.668
18	32395874	A	C	18	34815910	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.A605C:p.K202T;DTNA:NM_001392:exon8:c.A605C:p.K202T;DTNA:NM_032978:exon7:c.A605C:p.K202T;DTNA:NM_001390:exon6:c.A605C:p.K202T;DTNA:NM_001198938:exon8:c.A605C:p.K202T;DTNA:NM_001391:exon6:c.A605C:p.K202T;DTNA:NM_001128175:exon8:c.A605C:p.K202T;DTNA:NM_001198940:exon8:c.A605C:p.K202T;DTNA:NM_001198939:exon8:c.A605C:p.K202T;DTNA:NM_001198941:exon7:c.A605C:p.K202T;DTNA:NM_032975:exon8:c.A605C:p.K202T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.A605C:p.K202T;ENSG00000134769:ENST00000598334:exon8:c.A605C:p.K202T;ENSG00000134769:ENST00000595022:exon8:c.A605C:p.K202T;ENSG00000134769:ENST00000444659:exon6:c.A605C:p.K202T;ENSG00000134769:ENST00000269191:exon6:c.A605C:p.K202T;ENSG00000134769:ENST00000283365:exon8:c.A605C:p.K202T;ENSG00000134769:ENST00000399113:exon6:c.A605C:p.K202T;ENSG00000134769:ENST00000269190:exon8:c.A605C:p.K202T;ENSG00000134769:ENST00000399121:exon8:c.A605C:p.K202T;ENSG00000134769:ENST00000597599:exon7:c.A605C:p.K202T;ENSG00000134769:ENST00000554864:exon8:c.A605C:p.K202T;ENSG00000134769:ENST00000598774:exon7:c.A605C:p.K202T;ENSG00000134769:ENST00000315456:exon8:c.A605C:p.K202T;ENSG00000134769:ENST00000598142:exon7:c.A605C:p.K202T;	0.922004688674154	0.756
18	32395874	A	G	18	34815910	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.A605G:p.K202R;DTNA:NM_001392:exon8:c.A605G:p.K202R;DTNA:NM_032978:exon7:c.A605G:p.K202R;DTNA:NM_001390:exon6:c.A605G:p.K202R;DTNA:NM_001198938:exon8:c.A605G:p.K202R;DTNA:NM_001391:exon6:c.A605G:p.K202R;DTNA:NM_001128175:exon8:c.A605G:p.K202R;DTNA:NM_001198940:exon8:c.A605G:p.K202R;DTNA:NM_001198939:exon8:c.A605G:p.K202R;DTNA:NM_001198941:exon7:c.A605G:p.K202R;DTNA:NM_032975:exon8:c.A605G:p.K202R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.A605G:p.K202R;ENSG00000134769:ENST00000598334:exon8:c.A605G:p.K202R;ENSG00000134769:ENST00000595022:exon8:c.A605G:p.K202R;ENSG00000134769:ENST00000444659:exon6:c.A605G:p.K202R;ENSG00000134769:ENST00000269191:exon6:c.A605G:p.K202R;ENSG00000134769:ENST00000283365:exon8:c.A605G:p.K202R;ENSG00000134769:ENST00000399113:exon6:c.A605G:p.K202R;ENSG00000134769:ENST00000269190:exon8:c.A605G:p.K202R;ENSG00000134769:ENST00000399121:exon8:c.A605G:p.K202R;ENSG00000134769:ENST00000597599:exon7:c.A605G:p.K202R;ENSG00000134769:ENST00000554864:exon8:c.A605G:p.K202R;ENSG00000134769:ENST00000598774:exon7:c.A605G:p.K202R;ENSG00000134769:ENST00000315456:exon8:c.A605G:p.K202R;ENSG00000134769:ENST00000598142:exon7:c.A605G:p.K202R;	0.920866969939724	0.724
18	32395874	A	T	18	34815910	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.A605T:p.K202I;DTNA:NM_001392:exon8:c.A605T:p.K202I;DTNA:NM_032978:exon7:c.A605T:p.K202I;DTNA:NM_001390:exon6:c.A605T:p.K202I;DTNA:NM_001198938:exon8:c.A605T:p.K202I;DTNA:NM_001391:exon6:c.A605T:p.K202I;DTNA:NM_001128175:exon8:c.A605T:p.K202I;DTNA:NM_001198940:exon8:c.A605T:p.K202I;DTNA:NM_001198939:exon8:c.A605T:p.K202I;DTNA:NM_001198941:exon7:c.A605T:p.K202I;DTNA:NM_032975:exon8:c.A605T:p.K202I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.A605T:p.K202I;ENSG00000134769:ENST00000598334:exon8:c.A605T:p.K202I;ENSG00000134769:ENST00000595022:exon8:c.A605T:p.K202I;ENSG00000134769:ENST00000444659:exon6:c.A605T:p.K202I;ENSG00000134769:ENST00000269191:exon6:c.A605T:p.K202I;ENSG00000134769:ENST00000283365:exon8:c.A605T:p.K202I;ENSG00000134769:ENST00000399113:exon6:c.A605T:p.K202I;ENSG00000134769:ENST00000269190:exon8:c.A605T:p.K202I;ENSG00000134769:ENST00000399121:exon8:c.A605T:p.K202I;ENSG00000134769:ENST00000597599:exon7:c.A605T:p.K202I;ENSG00000134769:ENST00000554864:exon8:c.A605T:p.K202I;ENSG00000134769:ENST00000598774:exon7:c.A605T:p.K202I;ENSG00000134769:ENST00000315456:exon8:c.A605T:p.K202I;ENSG00000134769:ENST00000598142:exon7:c.A605T:p.K202I;	0.864022683131414	0.744
18	32395976	A	C	18	34816012	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.A707C:p.N236T;DTNA:NM_001392:exon8:c.A707C:p.N236T;DTNA:NM_032978:exon7:c.A707C:p.N236T;DTNA:NM_001390:exon6:c.A707C:p.N236T;DTNA:NM_001198938:exon8:c.A707C:p.N236T;DTNA:NM_001391:exon6:c.A707C:p.N236T;DTNA:NM_001128175:exon8:c.A707C:p.N236T;DTNA:NM_001198940:exon8:c.A707C:p.N236T;DTNA:NM_001198939:exon8:c.A707C:p.N236T;DTNA:NM_001198941:exon7:c.A707C:p.N236T;DTNA:NM_032975:exon8:c.A707C:p.N236T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.A707C:p.N236T;ENSG00000134769:ENST00000598334:exon8:c.A707C:p.N236T;ENSG00000134769:ENST00000595022:exon8:c.A707C:p.N236T;ENSG00000134769:ENST00000444659:exon6:c.A707C:p.N236T;ENSG00000134769:ENST00000269191:exon6:c.A707C:p.N236T;ENSG00000134769:ENST00000283365:exon8:c.A707C:p.N236T;ENSG00000134769:ENST00000399113:exon6:c.A707C:p.N236T;ENSG00000134769:ENST00000269190:exon8:c.A707C:p.N236T;ENSG00000134769:ENST00000399121:exon8:c.A707C:p.N236T;ENSG00000134769:ENST00000597599:exon7:c.A707C:p.N236T;ENSG00000134769:ENST00000554864:exon8:c.A707C:p.N236T;ENSG00000134769:ENST00000598774:exon7:c.A707C:p.N236T;ENSG00000134769:ENST00000315456:exon8:c.A707C:p.N236T;ENSG00000134769:ENST00000598142:exon7:c.A707C:p.N236T;	0.814167154792138	0.552
18	32395976	A	G	18	34816012	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.A707G:p.N236S;DTNA:NM_001392:exon8:c.A707G:p.N236S;DTNA:NM_032978:exon7:c.A707G:p.N236S;DTNA:NM_001390:exon6:c.A707G:p.N236S;DTNA:NM_001198938:exon8:c.A707G:p.N236S;DTNA:NM_001391:exon6:c.A707G:p.N236S;DTNA:NM_001128175:exon8:c.A707G:p.N236S;DTNA:NM_001198940:exon8:c.A707G:p.N236S;DTNA:NM_001198939:exon8:c.A707G:p.N236S;DTNA:NM_001198941:exon7:c.A707G:p.N236S;DTNA:NM_032975:exon8:c.A707G:p.N236S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.A707G:p.N236S;ENSG00000134769:ENST00000598334:exon8:c.A707G:p.N236S;ENSG00000134769:ENST00000595022:exon8:c.A707G:p.N236S;ENSG00000134769:ENST00000444659:exon6:c.A707G:p.N236S;ENSG00000134769:ENST00000269191:exon6:c.A707G:p.N236S;ENSG00000134769:ENST00000283365:exon8:c.A707G:p.N236S;ENSG00000134769:ENST00000399113:exon6:c.A707G:p.N236S;ENSG00000134769:ENST00000269190:exon8:c.A707G:p.N236S;ENSG00000134769:ENST00000399121:exon8:c.A707G:p.N236S;ENSG00000134769:ENST00000597599:exon7:c.A707G:p.N236S;ENSG00000134769:ENST00000554864:exon8:c.A707G:p.N236S;ENSG00000134769:ENST00000598774:exon7:c.A707G:p.N236S;ENSG00000134769:ENST00000315456:exon8:c.A707G:p.N236S;ENSG00000134769:ENST00000598142:exon7:c.A707G:p.N236S;	0.399295284302477	0.408
18	32395976	A	T	18	34816012	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.A707T:p.N236I;DTNA:NM_001392:exon8:c.A707T:p.N236I;DTNA:NM_032978:exon7:c.A707T:p.N236I;DTNA:NM_001390:exon6:c.A707T:p.N236I;DTNA:NM_001198938:exon8:c.A707T:p.N236I;DTNA:NM_001391:exon6:c.A707T:p.N236I;DTNA:NM_001128175:exon8:c.A707T:p.N236I;DTNA:NM_001198940:exon8:c.A707T:p.N236I;DTNA:NM_001198939:exon8:c.A707T:p.N236I;DTNA:NM_001198941:exon7:c.A707T:p.N236I;DTNA:NM_032975:exon8:c.A707T:p.N236I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.A707T:p.N236I;ENSG00000134769:ENST00000598334:exon8:c.A707T:p.N236I;ENSG00000134769:ENST00000595022:exon8:c.A707T:p.N236I;ENSG00000134769:ENST00000444659:exon6:c.A707T:p.N236I;ENSG00000134769:ENST00000269191:exon6:c.A707T:p.N236I;ENSG00000134769:ENST00000283365:exon8:c.A707T:p.N236I;ENSG00000134769:ENST00000399113:exon6:c.A707T:p.N236I;ENSG00000134769:ENST00000269190:exon8:c.A707T:p.N236I;ENSG00000134769:ENST00000399121:exon8:c.A707T:p.N236I;ENSG00000134769:ENST00000597599:exon7:c.A707T:p.N236I;ENSG00000134769:ENST00000554864:exon8:c.A707T:p.N236I;ENSG00000134769:ENST00000598774:exon7:c.A707T:p.N236I;ENSG00000134769:ENST00000315456:exon8:c.A707T:p.N236I;ENSG00000134769:ENST00000598142:exon7:c.A707T:p.N236I;	0.958444874498695	0.5
18	32395977	T	A	18	34816013	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.T708A:p.N236K;DTNA:NM_001392:exon8:c.T708A:p.N236K;DTNA:NM_032978:exon7:c.T708A:p.N236K;DTNA:NM_001390:exon6:c.T708A:p.N236K;DTNA:NM_001198938:exon8:c.T708A:p.N236K;DTNA:NM_001391:exon6:c.T708A:p.N236K;DTNA:NM_001128175:exon8:c.T708A:p.N236K;DTNA:NM_001198940:exon8:c.T708A:p.N236K;DTNA:NM_001198939:exon8:c.T708A:p.N236K;DTNA:NM_001198941:exon7:c.T708A:p.N236K;DTNA:NM_032975:exon8:c.T708A:p.N236K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.T708A:p.N236K;ENSG00000134769:ENST00000598334:exon8:c.T708A:p.N236K;ENSG00000134769:ENST00000595022:exon8:c.T708A:p.N236K;ENSG00000134769:ENST00000444659:exon6:c.T708A:p.N236K;ENSG00000134769:ENST00000269191:exon6:c.T708A:p.N236K;ENSG00000134769:ENST00000283365:exon8:c.T708A:p.N236K;ENSG00000134769:ENST00000399113:exon6:c.T708A:p.N236K;ENSG00000134769:ENST00000269190:exon8:c.T708A:p.N236K;ENSG00000134769:ENST00000399121:exon8:c.T708A:p.N236K;ENSG00000134769:ENST00000597599:exon7:c.T708A:p.N236K;ENSG00000134769:ENST00000554864:exon8:c.T708A:p.N236K;ENSG00000134769:ENST00000598774:exon7:c.T708A:p.N236K;ENSG00000134769:ENST00000315456:exon8:c.T708A:p.N236K;ENSG00000134769:ENST00000598142:exon7:c.T708A:p.N236K;	4.96145216834155E-5	0.208
18	32395977	T	C	18	34816013	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon8:c.T708C:p.N236N;DTNA:NM_001392:exon8:c.T708C:p.N236N;DTNA:NM_032978:exon7:c.T708C:p.N236N;DTNA:NM_001390:exon6:c.T708C:p.N236N;DTNA:NM_001198938:exon8:c.T708C:p.N236N;DTNA:NM_001391:exon6:c.T708C:p.N236N;DTNA:NM_001128175:exon8:c.T708C:p.N236N;DTNA:NM_001198940:exon8:c.T708C:p.N236N;DTNA:NM_001198939:exon8:c.T708C:p.N236N;DTNA:NM_001198941:exon7:c.T708C:p.N236N;DTNA:NM_032975:exon8:c.T708C:p.N236N;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.T708C:p.N236N;ENSG00000134769:ENST00000598334:exon8:c.T708C:p.N236N;ENSG00000134769:ENST00000595022:exon8:c.T708C:p.N236N;ENSG00000134769:ENST00000444659:exon6:c.T708C:p.N236N;ENSG00000134769:ENST00000269191:exon6:c.T708C:p.N236N;ENSG00000134769:ENST00000283365:exon8:c.T708C:p.N236N;ENSG00000134769:ENST00000399113:exon6:c.T708C:p.N236N;ENSG00000134769:ENST00000269190:exon8:c.T708C:p.N236N;ENSG00000134769:ENST00000399121:exon8:c.T708C:p.N236N;ENSG00000134769:ENST00000597599:exon7:c.T708C:p.N236N;ENSG00000134769:ENST00000554864:exon8:c.T708C:p.N236N;ENSG00000134769:ENST00000598774:exon7:c.T708C:p.N236N;ENSG00000134769:ENST00000315456:exon8:c.T708C:p.N236N;ENSG00000134769:ENST00000598142:exon7:c.T708C:p.N236N;	4.830518513259E-5	0.01
18	32395977	T	G	18	34816013	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.T708G:p.N236K;DTNA:NM_001392:exon8:c.T708G:p.N236K;DTNA:NM_032978:exon7:c.T708G:p.N236K;DTNA:NM_001390:exon6:c.T708G:p.N236K;DTNA:NM_001198938:exon8:c.T708G:p.N236K;DTNA:NM_001391:exon6:c.T708G:p.N236K;DTNA:NM_001128175:exon8:c.T708G:p.N236K;DTNA:NM_001198940:exon8:c.T708G:p.N236K;DTNA:NM_001198939:exon8:c.T708G:p.N236K;DTNA:NM_001198941:exon7:c.T708G:p.N236K;DTNA:NM_032975:exon8:c.T708G:p.N236K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.T708G:p.N236K;ENSG00000134769:ENST00000598334:exon8:c.T708G:p.N236K;ENSG00000134769:ENST00000595022:exon8:c.T708G:p.N236K;ENSG00000134769:ENST00000444659:exon6:c.T708G:p.N236K;ENSG00000134769:ENST00000269191:exon6:c.T708G:p.N236K;ENSG00000134769:ENST00000283365:exon8:c.T708G:p.N236K;ENSG00000134769:ENST00000399113:exon6:c.T708G:p.N236K;ENSG00000134769:ENST00000269190:exon8:c.T708G:p.N236K;ENSG00000134769:ENST00000399121:exon8:c.T708G:p.N236K;ENSG00000134769:ENST00000597599:exon7:c.T708G:p.N236K;ENSG00000134769:ENST00000554864:exon8:c.T708G:p.N236K;ENSG00000134769:ENST00000598774:exon7:c.T708G:p.N236K;ENSG00000134769:ENST00000315456:exon8:c.T708G:p.N236K;ENSG00000134769:ENST00000598142:exon7:c.T708G:p.N236K;	1.32188842663287E-4	0.12
18	32395978	G	A	18	34816014	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.G709A:p.V237I;DTNA:NM_001392:exon8:c.G709A:p.V237I;DTNA:NM_032978:exon7:c.G709A:p.V237I;DTNA:NM_001390:exon6:c.G709A:p.V237I;DTNA:NM_001198938:exon8:c.G709A:p.V237I;DTNA:NM_001391:exon6:c.G709A:p.V237I;DTNA:NM_001128175:exon8:c.G709A:p.V237I;DTNA:NM_001198940:exon8:c.G709A:p.V237I;DTNA:NM_001198939:exon8:c.G709A:p.V237I;DTNA:NM_001198941:exon7:c.G709A:p.V237I;DTNA:NM_032975:exon8:c.G709A:p.V237I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.G709A:p.V237I;ENSG00000134769:ENST00000598334:exon8:c.G709A:p.V237I;ENSG00000134769:ENST00000595022:exon8:c.G709A:p.V237I;ENSG00000134769:ENST00000444659:exon6:c.G709A:p.V237I;ENSG00000134769:ENST00000269191:exon6:c.G709A:p.V237I;ENSG00000134769:ENST00000283365:exon8:c.G709A:p.V237I;ENSG00000134769:ENST00000399113:exon6:c.G709A:p.V237I;ENSG00000134769:ENST00000269190:exon8:c.G709A:p.V237I;ENSG00000134769:ENST00000399121:exon8:c.G709A:p.V237I;ENSG00000134769:ENST00000597599:exon7:c.G709A:p.V237I;ENSG00000134769:ENST00000554864:exon8:c.G709A:p.V237I;ENSG00000134769:ENST00000598774:exon7:c.G709A:p.V237I;ENSG00000134769:ENST00000315456:exon8:c.G709A:p.V237I;ENSG00000134769:ENST00000598142:exon7:c.G709A:p.V237I;	0.99995454006824	0.984
18	32395978	G	C	18	34816014	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.G709C:p.V237L;DTNA:NM_001392:exon8:c.G709C:p.V237L;DTNA:NM_032978:exon7:c.G709C:p.V237L;DTNA:NM_001390:exon6:c.G709C:p.V237L;DTNA:NM_001198938:exon8:c.G709C:p.V237L;DTNA:NM_001391:exon6:c.G709C:p.V237L;DTNA:NM_001128175:exon8:c.G709C:p.V237L;DTNA:NM_001198940:exon8:c.G709C:p.V237L;DTNA:NM_001198939:exon8:c.G709C:p.V237L;DTNA:NM_001198941:exon7:c.G709C:p.V237L;DTNA:NM_032975:exon8:c.G709C:p.V237L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.G709C:p.V237L;ENSG00000134769:ENST00000598334:exon8:c.G709C:p.V237L;ENSG00000134769:ENST00000595022:exon8:c.G709C:p.V237L;ENSG00000134769:ENST00000444659:exon6:c.G709C:p.V237L;ENSG00000134769:ENST00000269191:exon6:c.G709C:p.V237L;ENSG00000134769:ENST00000283365:exon8:c.G709C:p.V237L;ENSG00000134769:ENST00000399113:exon6:c.G709C:p.V237L;ENSG00000134769:ENST00000269190:exon8:c.G709C:p.V237L;ENSG00000134769:ENST00000399121:exon8:c.G709C:p.V237L;ENSG00000134769:ENST00000597599:exon7:c.G709C:p.V237L;ENSG00000134769:ENST00000554864:exon8:c.G709C:p.V237L;ENSG00000134769:ENST00000598774:exon7:c.G709C:p.V237L;ENSG00000134769:ENST00000315456:exon8:c.G709C:p.V237L;ENSG00000134769:ENST00000598142:exon7:c.G709C:p.V237L;	0.999977876178182	0.986
18	32395978	G	T	18	34816014	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon8:c.G709T:p.V237F;DTNA:NM_001392:exon8:c.G709T:p.V237F;DTNA:NM_032978:exon7:c.G709T:p.V237F;DTNA:NM_001390:exon6:c.G709T:p.V237F;DTNA:NM_001198938:exon8:c.G709T:p.V237F;DTNA:NM_001391:exon6:c.G709T:p.V237F;DTNA:NM_001128175:exon8:c.G709T:p.V237F;DTNA:NM_001198940:exon8:c.G709T:p.V237F;DTNA:NM_001198939:exon8:c.G709T:p.V237F;DTNA:NM_001198941:exon7:c.G709T:p.V237F;DTNA:NM_032975:exon8:c.G709T:p.V237F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon7:c.G709T:p.V237F;ENSG00000134769:ENST00000598334:exon8:c.G709T:p.V237F;ENSG00000134769:ENST00000595022:exon8:c.G709T:p.V237F;ENSG00000134769:ENST00000444659:exon6:c.G709T:p.V237F;ENSG00000134769:ENST00000269191:exon6:c.G709T:p.V237F;ENSG00000134769:ENST00000283365:exon8:c.G709T:p.V237F;ENSG00000134769:ENST00000399113:exon6:c.G709T:p.V237F;ENSG00000134769:ENST00000269190:exon8:c.G709T:p.V237F;ENSG00000134769:ENST00000399121:exon8:c.G709T:p.V237F;ENSG00000134769:ENST00000597599:exon7:c.G709T:p.V237F;ENSG00000134769:ENST00000554864:exon8:c.G709T:p.V237F;ENSG00000134769:ENST00000598774:exon7:c.G709T:p.V237F;ENSG00000134769:ENST00000315456:exon8:c.G709T:p.V237F;ENSG00000134769:ENST00000598142:exon7:c.G709T:p.V237F;	0.999908780060863	0.91
18	32395979	G	A	18	34816015	y	y	splicing	DTNA(NM_001392:exon8:c.709+1G>A;NM_032975:exon8:c.709+1G>A;NM_032979:exon8:c.709+1G>A;NM_001198940:exon8:c.709+1G>A;NM_001198939:exon8:c.709+1G>A;NM_001198938:exon8:c.709+1G>A;NM_001128175:exon8:c.709+1G>A;NM_001198941:exon7:c.709+1G>A;NM_032978:exon7:c.709+1G>A;NM_001391:exon6:c.709+1G>A;NM_001390:exon6:c.709+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.709+1G>A;ENST00000315456:exon8:c.709+1G>A;ENST00000598334:exon8:c.709+1G>A;ENST00000399121:exon8:c.709+1G>A;ENST00000554864:exon8:c.709+1G>A;ENST00000269190:exon8:c.709+1G>A;ENST00000595022:exon8:c.709+1G>A;ENST00000598142:exon7:c.709+1G>A;ENST00000598774:exon7:c.709+1G>A;ENST00000348997:exon7:c.709+1G>A;ENST00000597599:exon7:c.709+1G>A;ENST00000269191:exon6:c.709+1G>A;ENST00000444659:exon6:c.709+1G>A;ENST00000399113:exon6:c.709+1G>A)	.	.	0.999989072007339	0.934
18	32395979	G	C	18	34816015	y	y	splicing	DTNA(NM_001392:exon8:c.709+1G>C;NM_032975:exon8:c.709+1G>C;NM_032979:exon8:c.709+1G>C;NM_001198940:exon8:c.709+1G>C;NM_001198939:exon8:c.709+1G>C;NM_001198938:exon8:c.709+1G>C;NM_001128175:exon8:c.709+1G>C;NM_001198941:exon7:c.709+1G>C;NM_032978:exon7:c.709+1G>C;NM_001391:exon6:c.709+1G>C;NM_001390:exon6:c.709+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.709+1G>C;ENST00000315456:exon8:c.709+1G>C;ENST00000598334:exon8:c.709+1G>C;ENST00000399121:exon8:c.709+1G>C;ENST00000554864:exon8:c.709+1G>C;ENST00000269190:exon8:c.709+1G>C;ENST00000595022:exon8:c.709+1G>C;ENST00000598142:exon7:c.709+1G>C;ENST00000598774:exon7:c.709+1G>C;ENST00000348997:exon7:c.709+1G>C;ENST00000597599:exon7:c.709+1G>C;ENST00000269191:exon6:c.709+1G>C;ENST00000444659:exon6:c.709+1G>C;ENST00000399113:exon6:c.709+1G>C)	.	.	0.999989072007339	0.934
18	32395979	G	T	18	34816015	y	y	splicing	DTNA(NM_001392:exon8:c.709+1G>T;NM_032975:exon8:c.709+1G>T;NM_032979:exon8:c.709+1G>T;NM_001198940:exon8:c.709+1G>T;NM_001198939:exon8:c.709+1G>T;NM_001198938:exon8:c.709+1G>T;NM_001128175:exon8:c.709+1G>T;NM_001198941:exon7:c.709+1G>T;NM_032978:exon7:c.709+1G>T;NM_001391:exon6:c.709+1G>T;NM_001390:exon6:c.709+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.709+1G>T;ENST00000315456:exon8:c.709+1G>T;ENST00000598334:exon8:c.709+1G>T;ENST00000399121:exon8:c.709+1G>T;ENST00000554864:exon8:c.709+1G>T;ENST00000269190:exon8:c.709+1G>T;ENST00000595022:exon8:c.709+1G>T;ENST00000598142:exon7:c.709+1G>T;ENST00000598774:exon7:c.709+1G>T;ENST00000348997:exon7:c.709+1G>T;ENST00000597599:exon7:c.709+1G>T;ENST00000269191:exon6:c.709+1G>T;ENST00000444659:exon6:c.709+1G>T;ENST00000399113:exon6:c.709+1G>T)	.	.	0.999989072007339	0.934
18	32395980	T	A	18	34816016	y	y	splicing	DTNA(NM_001392:exon8:c.709+2T>A;NM_032975:exon8:c.709+2T>A;NM_032979:exon8:c.709+2T>A;NM_001198940:exon8:c.709+2T>A;NM_001198939:exon8:c.709+2T>A;NM_001198938:exon8:c.709+2T>A;NM_001128175:exon8:c.709+2T>A;NM_001198941:exon7:c.709+2T>A;NM_032978:exon7:c.709+2T>A;NM_001391:exon6:c.709+2T>A;NM_001390:exon6:c.709+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.709+2T>A;ENST00000315456:exon8:c.709+2T>A;ENST00000598334:exon8:c.709+2T>A;ENST00000399121:exon8:c.709+2T>A;ENST00000554864:exon8:c.709+2T>A;ENST00000269190:exon8:c.709+2T>A;ENST00000595022:exon8:c.709+2T>A;ENST00000598142:exon7:c.709+2T>A;ENST00000598774:exon7:c.709+2T>A;ENST00000348997:exon7:c.709+2T>A;ENST00000597599:exon7:c.709+2T>A;ENST00000269191:exon6:c.709+2T>A;ENST00000444659:exon6:c.709+2T>A;ENST00000399113:exon6:c.709+2T>A)	.	.	0.999988247793601	0.932
18	32395980	T	C	18	34816016	y	y	splicing	DTNA(NM_001392:exon8:c.709+2T>C;NM_032975:exon8:c.709+2T>C;NM_032979:exon8:c.709+2T>C;NM_001198940:exon8:c.709+2T>C;NM_001198939:exon8:c.709+2T>C;NM_001198938:exon8:c.709+2T>C;NM_001128175:exon8:c.709+2T>C;NM_001198941:exon7:c.709+2T>C;NM_032978:exon7:c.709+2T>C;NM_001391:exon6:c.709+2T>C;NM_001390:exon6:c.709+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.709+2T>C;ENST00000315456:exon8:c.709+2T>C;ENST00000598334:exon8:c.709+2T>C;ENST00000399121:exon8:c.709+2T>C;ENST00000554864:exon8:c.709+2T>C;ENST00000269190:exon8:c.709+2T>C;ENST00000595022:exon8:c.709+2T>C;ENST00000598142:exon7:c.709+2T>C;ENST00000598774:exon7:c.709+2T>C;ENST00000348997:exon7:c.709+2T>C;ENST00000597599:exon7:c.709+2T>C;ENST00000269191:exon6:c.709+2T>C;ENST00000444659:exon6:c.709+2T>C;ENST00000399113:exon6:c.709+2T>C)	.	.	0.99991520749976	0.87
18	32395980	T	G	18	34816016	y	y	splicing	DTNA(NM_001392:exon8:c.709+2T>G;NM_032975:exon8:c.709+2T>G;NM_032979:exon8:c.709+2T>G;NM_001198940:exon8:c.709+2T>G;NM_001198939:exon8:c.709+2T>G;NM_001198938:exon8:c.709+2T>G;NM_001128175:exon8:c.709+2T>G;NM_001198941:exon7:c.709+2T>G;NM_032978:exon7:c.709+2T>G;NM_001391:exon6:c.709+2T>G;NM_001390:exon6:c.709+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon8:c.709+2T>G;ENST00000315456:exon8:c.709+2T>G;ENST00000598334:exon8:c.709+2T>G;ENST00000399121:exon8:c.709+2T>G;ENST00000554864:exon8:c.709+2T>G;ENST00000269190:exon8:c.709+2T>G;ENST00000595022:exon8:c.709+2T>G;ENST00000598142:exon7:c.709+2T>G;ENST00000598774:exon7:c.709+2T>G;ENST00000348997:exon7:c.709+2T>G;ENST00000597599:exon7:c.709+2T>G;ENST00000269191:exon6:c.709+2T>G;ENST00000444659:exon6:c.709+2T>G;ENST00000399113:exon6:c.709+2T>G)	.	.	0.999988247793601	0.932
18	32395981	G	A	18	34816017	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.3844613680509E-4	0.004
18	32395981	G	C	18	34816017	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.577574548660499	0.418
18	32395981	G	T	18	34816017	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.033397893951817	0.33
18	32395982	A	C	18	34816018	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.937121228434847	0.616
18	32395982	A	G	18	34816018	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.989441483642159	0.81
18	32395982	A	T	18	34816018	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.995481683443773	0.818
18	32395983	G	A	18	34816019	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999522359099395	0.96
18	32395983	G	C	18	34816019	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999919732554993	0.978
18	32395983	G	T	18	34816019	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999675846102355	0.88
18	32395984	T	A	18	34816020	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.518186577545115	0.516
18	32395984	T	C	18	34816020	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.131235349428012	0.35
18	32395984	T	G	18	34816020	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0506294421110872	0.354
18	32395985	A	C	18	34816021	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.69791999527781E-5	0.0
18	32395985	A	G	18	34816021	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.1140245746842E-5	0.0
18	32395985	A	T	18	34816021	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.1140245746842E-5	0.0
18	32395986	G	A	18	34816022	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.64715185626536E-5	0.0
18	32395986	G	C	18	34816022	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.64715185626536E-5	0.0
18	32395986	G	T	18	34816022	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.64715185626536E-5	0.0
18	32398116	C	A	18	34818152	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00131093440743681	0.12
18	32398116	C	G	18	34818152	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.994045603667086	0.946
18	32398116	C	T	18	34818152	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.20823384481016E-5	0.0
18	32398117	T	A	18	34818153	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00237927504610551	0.202
18	32398117	T	C	18	34818153	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.51435363544388E-4	0.148
18	32398117	T	G	18	34818153	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00108489096777405	0.196
18	32398118	T	A	18	34818154	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00254897606677837	0.194
18	32398118	T	C	18	34818154	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.92221814743587E-4	0.028
18	32398118	T	G	18	34818154	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00295155021518833	0.162
18	32398119	C	A	18	34818155	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.56415736599448E-4	0.052
18	32398119	C	G	18	34818155	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.06506933586664E-4	0.046
18	32398119	C	T	18	34818155	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.09099851843556E-5	0.0
18	32398120	C	A	18	34818156	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0452844113866177	0.276
18	32398120	C	G	18	34818156	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.0171417307680392	0.21
18	32398120	C	T	18	34818156	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00927127496088724	0.25
18	32398121	C	A	18	34818157	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00196129894668376	0.18
18	32398121	C	G	18	34818157	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00234067942007783	0.132
18	32398121	C	T	18	34818157	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.101635952878E-4	0.012
18	32398122	C	A	18	34818158	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00224685423998013	0.11
18	32398122	C	G	18	34818158	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00212057331295399	0.12
18	32398122	C	T	18	34818158	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	8.13214904818358E-5	0.002
18	32398123	C	A	18	34818159	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.241664980084109	0.25
18	32398123	C	G	18	34818159	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.162839127095565	0.25
18	32398123	C	T	18	34818159	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.00208656955858752	0.054
18	32398124	T	A	18	34818160	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	6.80785139072748E-5	0.072
18	32398124	T	C	18	34818160	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.15374191396795E-5	0.018
18	32398124	T	G	18	34818160	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.37707002518894E-5	0.024
18	32398125	T	A	18	34818161	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.072608482547353	0.412
18	32398125	T	C	18	34818161	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.01427876270443E-5	0.002
18	32398125	T	G	18	34818161	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	0.946158152593033	0.68
18	32398126	A	C	18	34818162	y	y	splicing	DTNA(NM_001392:exon9:c.710-2A>C;NM_032975:exon9:c.710-2A>C;NM_032979:exon9:c.710-2A>C;NM_001198940:exon9:c.710-2A>C;NM_001198939:exon9:c.710-2A>C;NM_001198938:exon9:c.710-2A>C;NM_001128175:exon9:c.710-2A>C;NM_001198941:exon8:c.710-2A>C;NM_032978:exon8:c.710-2A>C;NM_001391:exon7:c.710-2A>C;NM_001390:exon7:c.710-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.710-2A>C;ENST00000315456:exon9:c.710-2A>C;ENST00000598334:exon9:c.710-2A>C;ENST00000399121:exon9:c.710-2A>C;ENST00000554864:exon9:c.710-2A>C;ENST00000269190:exon9:c.710-2A>C;ENST00000595022:exon9:c.710-2A>C;ENST00000598142:exon8:c.710-2A>C;ENST00000598774:exon8:c.710-2A>C;ENST00000348997:exon8:c.710-2A>C;ENST00000597599:exon8:c.710-2A>C;ENST00000269191:exon7:c.710-2A>C;ENST00000444659:exon7:c.710-2A>C;ENST00000399113:exon7:c.710-2A>C)	.	.	0.999988247793601	0.93
18	32398126	A	G	18	34818162	y	y	splicing	DTNA(NM_001392:exon9:c.710-2A>G;NM_032975:exon9:c.710-2A>G;NM_032979:exon9:c.710-2A>G;NM_001198940:exon9:c.710-2A>G;NM_001198939:exon9:c.710-2A>G;NM_001198938:exon9:c.710-2A>G;NM_001128175:exon9:c.710-2A>G;NM_001198941:exon8:c.710-2A>G;NM_032978:exon8:c.710-2A>G;NM_001391:exon7:c.710-2A>G;NM_001390:exon7:c.710-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.710-2A>G;ENST00000315456:exon9:c.710-2A>G;ENST00000598334:exon9:c.710-2A>G;ENST00000399121:exon9:c.710-2A>G;ENST00000554864:exon9:c.710-2A>G;ENST00000269190:exon9:c.710-2A>G;ENST00000595022:exon9:c.710-2A>G;ENST00000598142:exon8:c.710-2A>G;ENST00000598774:exon8:c.710-2A>G;ENST00000348997:exon8:c.710-2A>G;ENST00000597599:exon8:c.710-2A>G;ENST00000269191:exon7:c.710-2A>G;ENST00000444659:exon7:c.710-2A>G;ENST00000399113:exon7:c.710-2A>G)	.	.	0.999988247793601	0.93
18	32398126	A	T	18	34818162	y	y	splicing	DTNA(NM_001392:exon9:c.710-2A>T;NM_032975:exon9:c.710-2A>T;NM_032979:exon9:c.710-2A>T;NM_001198940:exon9:c.710-2A>T;NM_001198939:exon9:c.710-2A>T;NM_001198938:exon9:c.710-2A>T;NM_001128175:exon9:c.710-2A>T;NM_001198941:exon8:c.710-2A>T;NM_032978:exon8:c.710-2A>T;NM_001391:exon7:c.710-2A>T;NM_001390:exon7:c.710-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.710-2A>T;ENST00000315456:exon9:c.710-2A>T;ENST00000598334:exon9:c.710-2A>T;ENST00000399121:exon9:c.710-2A>T;ENST00000554864:exon9:c.710-2A>T;ENST00000269190:exon9:c.710-2A>T;ENST00000595022:exon9:c.710-2A>T;ENST00000598142:exon8:c.710-2A>T;ENST00000598774:exon8:c.710-2A>T;ENST00000348997:exon8:c.710-2A>T;ENST00000597599:exon8:c.710-2A>T;ENST00000269191:exon7:c.710-2A>T;ENST00000444659:exon7:c.710-2A>T;ENST00000399113:exon7:c.710-2A>T)	.	.	0.999988247793601	0.93
18	32398127	G	A	18	34818163	y	y	splicing	DTNA(NM_001392:exon9:c.710-1G>A;NM_032975:exon9:c.710-1G>A;NM_032979:exon9:c.710-1G>A;NM_001198940:exon9:c.710-1G>A;NM_001198939:exon9:c.710-1G>A;NM_001198938:exon9:c.710-1G>A;NM_001128175:exon9:c.710-1G>A;NM_001198941:exon8:c.710-1G>A;NM_032978:exon8:c.710-1G>A;NM_001391:exon7:c.710-1G>A;NM_001390:exon7:c.710-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.710-1G>A;ENST00000315456:exon9:c.710-1G>A;ENST00000598334:exon9:c.710-1G>A;ENST00000399121:exon9:c.710-1G>A;ENST00000554864:exon9:c.710-1G>A;ENST00000269190:exon9:c.710-1G>A;ENST00000595022:exon9:c.710-1G>A;ENST00000598142:exon8:c.710-1G>A;ENST00000598774:exon8:c.710-1G>A;ENST00000348997:exon8:c.710-1G>A;ENST00000597599:exon8:c.710-1G>A;ENST00000269191:exon7:c.710-1G>A;ENST00000444659:exon7:c.710-1G>A;ENST00000399113:exon7:c.710-1G>A)	.	.	0.999990361384395	0.938
18	32398127	G	C	18	34818163	y	y	splicing	DTNA(NM_001392:exon9:c.710-1G>C;NM_032975:exon9:c.710-1G>C;NM_032979:exon9:c.710-1G>C;NM_001198940:exon9:c.710-1G>C;NM_001198939:exon9:c.710-1G>C;NM_001198938:exon9:c.710-1G>C;NM_001128175:exon9:c.710-1G>C;NM_001198941:exon8:c.710-1G>C;NM_032978:exon8:c.710-1G>C;NM_001391:exon7:c.710-1G>C;NM_001390:exon7:c.710-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.710-1G>C;ENST00000315456:exon9:c.710-1G>C;ENST00000598334:exon9:c.710-1G>C;ENST00000399121:exon9:c.710-1G>C;ENST00000554864:exon9:c.710-1G>C;ENST00000269190:exon9:c.710-1G>C;ENST00000595022:exon9:c.710-1G>C;ENST00000598142:exon8:c.710-1G>C;ENST00000598774:exon8:c.710-1G>C;ENST00000348997:exon8:c.710-1G>C;ENST00000597599:exon8:c.710-1G>C;ENST00000269191:exon7:c.710-1G>C;ENST00000444659:exon7:c.710-1G>C;ENST00000399113:exon7:c.710-1G>C)	.	.	0.999990361384395	0.938
18	32398127	G	T	18	34818163	y	y	splicing	DTNA(NM_001392:exon9:c.710-1G>T;NM_032975:exon9:c.710-1G>T;NM_032979:exon9:c.710-1G>T;NM_001198940:exon9:c.710-1G>T;NM_001198939:exon9:c.710-1G>T;NM_001198938:exon9:c.710-1G>T;NM_001128175:exon9:c.710-1G>T;NM_001198941:exon8:c.710-1G>T;NM_032978:exon8:c.710-1G>T;NM_001391:exon7:c.710-1G>T;NM_001390:exon7:c.710-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.710-1G>T;ENST00000315456:exon9:c.710-1G>T;ENST00000598334:exon9:c.710-1G>T;ENST00000399121:exon9:c.710-1G>T;ENST00000554864:exon9:c.710-1G>T;ENST00000269190:exon9:c.710-1G>T;ENST00000595022:exon9:c.710-1G>T;ENST00000598142:exon8:c.710-1G>T;ENST00000598774:exon8:c.710-1G>T;ENST00000348997:exon8:c.710-1G>T;ENST00000597599:exon8:c.710-1G>T;ENST00000269191:exon7:c.710-1G>T;ENST00000444659:exon7:c.710-1G>T;ENST00000399113:exon7:c.710-1G>T)	.	.	0.999990361384395	0.938
18	32398128	T	A	18	34818164	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.T710A:p.V237D;DTNA:NM_001392:exon9:c.T710A:p.V237D;DTNA:NM_032978:exon8:c.T710A:p.V237D;DTNA:NM_001390:exon7:c.T710A:p.V237D;DTNA:NM_001198938:exon9:c.T710A:p.V237D;DTNA:NM_001391:exon7:c.T710A:p.V237D;DTNA:NM_001128175:exon9:c.T710A:p.V237D;DTNA:NM_001198940:exon9:c.T710A:p.V237D;DTNA:NM_001198939:exon9:c.T710A:p.V237D;DTNA:NM_001198941:exon8:c.T710A:p.V237D;DTNA:NM_032975:exon9:c.T710A:p.V237D;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.T710A:p.V237D;ENSG00000134769:ENST00000598334:exon9:c.T710A:p.V237D;ENSG00000134769:ENST00000595022:exon9:c.T710A:p.V237D;ENSG00000134769:ENST00000444659:exon7:c.T710A:p.V237D;ENSG00000134769:ENST00000269191:exon7:c.T710A:p.V237D;ENSG00000134769:ENST00000283365:exon9:c.T710A:p.V237D;ENSG00000134769:ENST00000399113:exon7:c.T710A:p.V237D;ENSG00000134769:ENST00000269190:exon9:c.T710A:p.V237D;ENSG00000134769:ENST00000399121:exon9:c.T710A:p.V237D;ENSG00000134769:ENST00000597599:exon8:c.T710A:p.V237D;ENSG00000134769:ENST00000554864:exon9:c.T710A:p.V237D;ENSG00000134769:ENST00000598774:exon8:c.T710A:p.V237D;ENSG00000134769:ENST00000315456:exon9:c.T710A:p.V237D;ENSG00000134769:ENST00000598142:exon8:c.T710A:p.V237D;	0.676482151470728	0.74
18	32398128	T	C	18	34818164	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.T710C:p.V237A;DTNA:NM_001392:exon9:c.T710C:p.V237A;DTNA:NM_032978:exon8:c.T710C:p.V237A;DTNA:NM_001390:exon7:c.T710C:p.V237A;DTNA:NM_001198938:exon9:c.T710C:p.V237A;DTNA:NM_001391:exon7:c.T710C:p.V237A;DTNA:NM_001128175:exon9:c.T710C:p.V237A;DTNA:NM_001198940:exon9:c.T710C:p.V237A;DTNA:NM_001198939:exon9:c.T710C:p.V237A;DTNA:NM_001198941:exon8:c.T710C:p.V237A;DTNA:NM_032975:exon9:c.T710C:p.V237A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.T710C:p.V237A;ENSG00000134769:ENST00000598334:exon9:c.T710C:p.V237A;ENSG00000134769:ENST00000595022:exon9:c.T710C:p.V237A;ENSG00000134769:ENST00000444659:exon7:c.T710C:p.V237A;ENSG00000134769:ENST00000269191:exon7:c.T710C:p.V237A;ENSG00000134769:ENST00000283365:exon9:c.T710C:p.V237A;ENSG00000134769:ENST00000399113:exon7:c.T710C:p.V237A;ENSG00000134769:ENST00000269190:exon9:c.T710C:p.V237A;ENSG00000134769:ENST00000399121:exon9:c.T710C:p.V237A;ENSG00000134769:ENST00000597599:exon8:c.T710C:p.V237A;ENSG00000134769:ENST00000554864:exon9:c.T710C:p.V237A;ENSG00000134769:ENST00000598774:exon8:c.T710C:p.V237A;ENSG00000134769:ENST00000315456:exon9:c.T710C:p.V237A;ENSG00000134769:ENST00000598142:exon8:c.T710C:p.V237A;	0.897259467348393	0.58
18	32398128	T	G	18	34818164	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.T710G:p.V237G;DTNA:NM_001392:exon9:c.T710G:p.V237G;DTNA:NM_032978:exon8:c.T710G:p.V237G;DTNA:NM_001390:exon7:c.T710G:p.V237G;DTNA:NM_001198938:exon9:c.T710G:p.V237G;DTNA:NM_001391:exon7:c.T710G:p.V237G;DTNA:NM_001128175:exon9:c.T710G:p.V237G;DTNA:NM_001198940:exon9:c.T710G:p.V237G;DTNA:NM_001198939:exon9:c.T710G:p.V237G;DTNA:NM_001198941:exon8:c.T710G:p.V237G;DTNA:NM_032975:exon9:c.T710G:p.V237G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.T710G:p.V237G;ENSG00000134769:ENST00000598334:exon9:c.T710G:p.V237G;ENSG00000134769:ENST00000595022:exon9:c.T710G:p.V237G;ENSG00000134769:ENST00000444659:exon7:c.T710G:p.V237G;ENSG00000134769:ENST00000269191:exon7:c.T710G:p.V237G;ENSG00000134769:ENST00000283365:exon9:c.T710G:p.V237G;ENSG00000134769:ENST00000399113:exon7:c.T710G:p.V237G;ENSG00000134769:ENST00000269190:exon9:c.T710G:p.V237G;ENSG00000134769:ENST00000399121:exon9:c.T710G:p.V237G;ENSG00000134769:ENST00000597599:exon8:c.T710G:p.V237G;ENSG00000134769:ENST00000554864:exon9:c.T710G:p.V237G;ENSG00000134769:ENST00000598774:exon8:c.T710G:p.V237G;ENSG00000134769:ENST00000315456:exon9:c.T710G:p.V237G;ENSG00000134769:ENST00000598142:exon8:c.T710G:p.V237G;	0.805108478202844	0.664
18	32398129	C	A	18	34818165	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon9:c.C711A:p.V237V;DTNA:NM_001392:exon9:c.C711A:p.V237V;DTNA:NM_032978:exon8:c.C711A:p.V237V;DTNA:NM_001390:exon7:c.C711A:p.V237V;DTNA:NM_001198938:exon9:c.C711A:p.V237V;DTNA:NM_001391:exon7:c.C711A:p.V237V;DTNA:NM_001128175:exon9:c.C711A:p.V237V;DTNA:NM_001198940:exon9:c.C711A:p.V237V;DTNA:NM_001198939:exon9:c.C711A:p.V237V;DTNA:NM_001198941:exon8:c.C711A:p.V237V;DTNA:NM_032975:exon9:c.C711A:p.V237V;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.C711A:p.V237V;ENSG00000134769:ENST00000598334:exon9:c.C711A:p.V237V;ENSG00000134769:ENST00000595022:exon9:c.C711A:p.V237V;ENSG00000134769:ENST00000444659:exon7:c.C711A:p.V237V;ENSG00000134769:ENST00000269191:exon7:c.C711A:p.V237V;ENSG00000134769:ENST00000283365:exon9:c.C711A:p.V237V;ENSG00000134769:ENST00000399113:exon7:c.C711A:p.V237V;ENSG00000134769:ENST00000269190:exon9:c.C711A:p.V237V;ENSG00000134769:ENST00000399121:exon9:c.C711A:p.V237V;ENSG00000134769:ENST00000597599:exon8:c.C711A:p.V237V;ENSG00000134769:ENST00000554864:exon9:c.C711A:p.V237V;ENSG00000134769:ENST00000598774:exon8:c.C711A:p.V237V;ENSG00000134769:ENST00000315456:exon9:c.C711A:p.V237V;ENSG00000134769:ENST00000598142:exon8:c.C711A:p.V237V;	0.15360618340674	0.28
18	32398129	C	G	18	34818165	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon9:c.C711G:p.V237V;DTNA:NM_001392:exon9:c.C711G:p.V237V;DTNA:NM_032978:exon8:c.C711G:p.V237V;DTNA:NM_001390:exon7:c.C711G:p.V237V;DTNA:NM_001198938:exon9:c.C711G:p.V237V;DTNA:NM_001391:exon7:c.C711G:p.V237V;DTNA:NM_001128175:exon9:c.C711G:p.V237V;DTNA:NM_001198940:exon9:c.C711G:p.V237V;DTNA:NM_001198939:exon9:c.C711G:p.V237V;DTNA:NM_001198941:exon8:c.C711G:p.V237V;DTNA:NM_032975:exon9:c.C711G:p.V237V;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.C711G:p.V237V;ENSG00000134769:ENST00000598334:exon9:c.C711G:p.V237V;ENSG00000134769:ENST00000595022:exon9:c.C711G:p.V237V;ENSG00000134769:ENST00000444659:exon7:c.C711G:p.V237V;ENSG00000134769:ENST00000269191:exon7:c.C711G:p.V237V;ENSG00000134769:ENST00000283365:exon9:c.C711G:p.V237V;ENSG00000134769:ENST00000399113:exon7:c.C711G:p.V237V;ENSG00000134769:ENST00000269190:exon9:c.C711G:p.V237V;ENSG00000134769:ENST00000399121:exon9:c.C711G:p.V237V;ENSG00000134769:ENST00000597599:exon8:c.C711G:p.V237V;ENSG00000134769:ENST00000554864:exon9:c.C711G:p.V237V;ENSG00000134769:ENST00000598774:exon8:c.C711G:p.V237V;ENSG00000134769:ENST00000315456:exon9:c.C711G:p.V237V;ENSG00000134769:ENST00000598142:exon8:c.C711G:p.V237V;	0.0503023847445443	0.244
18	32398129	C	T	18	34818165	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon9:c.C711T:p.V237V;DTNA:NM_001392:exon9:c.C711T:p.V237V;DTNA:NM_032978:exon8:c.C711T:p.V237V;DTNA:NM_001390:exon7:c.C711T:p.V237V;DTNA:NM_001198938:exon9:c.C711T:p.V237V;DTNA:NM_001391:exon7:c.C711T:p.V237V;DTNA:NM_001128175:exon9:c.C711T:p.V237V;DTNA:NM_001198940:exon9:c.C711T:p.V237V;DTNA:NM_001198939:exon9:c.C711T:p.V237V;DTNA:NM_001198941:exon8:c.C711T:p.V237V;DTNA:NM_032975:exon9:c.C711T:p.V237V;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.C711T:p.V237V;ENSG00000134769:ENST00000598334:exon9:c.C711T:p.V237V;ENSG00000134769:ENST00000595022:exon9:c.C711T:p.V237V;ENSG00000134769:ENST00000444659:exon7:c.C711T:p.V237V;ENSG00000134769:ENST00000269191:exon7:c.C711T:p.V237V;ENSG00000134769:ENST00000283365:exon9:c.C711T:p.V237V;ENSG00000134769:ENST00000399113:exon7:c.C711T:p.V237V;ENSG00000134769:ENST00000269190:exon9:c.C711T:p.V237V;ENSG00000134769:ENST00000399121:exon9:c.C711T:p.V237V;ENSG00000134769:ENST00000597599:exon8:c.C711T:p.V237V;ENSG00000134769:ENST00000554864:exon9:c.C711T:p.V237V;ENSG00000134769:ENST00000598774:exon8:c.C711T:p.V237V;ENSG00000134769:ENST00000315456:exon9:c.C711T:p.V237V;ENSG00000134769:ENST00000598142:exon8:c.C711T:p.V237V;	0.11885258656214	0.414
18	32398292	T	A	18	34818328	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.T874A:p.W292R;DTNA:NM_001392:exon9:c.T874A:p.W292R;DTNA:NM_032978:exon8:c.T874A:p.W292R;DTNA:NM_001390:exon7:c.T874A:p.W292R;DTNA:NM_001198938:exon9:c.T874A:p.W292R;DTNA:NM_001198943:exon1:c.T124A:p.W42R;DTNA:NM_001391:exon7:c.T874A:p.W292R;DTNA:NM_001128175:exon9:c.T874A:p.W292R;DTNA:NM_001198940:exon9:c.T874A:p.W292R;DTNA:NM_001198939:exon9:c.T874A:p.W292R;DTNA:NM_001198941:exon8:c.T874A:p.W292R;DTNA:NM_032975:exon9:c.T874A:p.W292R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.T874A:p.W292R;ENSG00000134769:ENST00000598334:exon9:c.T874A:p.W292R;ENSG00000134769:ENST00000595022:exon9:c.T874A:p.W292R;ENSG00000134769:ENST00000444659:exon7:c.T874A:p.W292R;ENSG00000134769:ENST00000269191:exon7:c.T874A:p.W292R;ENSG00000134769:ENST00000283365:exon9:c.T874A:p.W292R;ENSG00000134769:ENST00000399113:exon7:c.T874A:p.W292R;ENSG00000134769:ENST00000269190:exon9:c.T874A:p.W292R;ENSG00000134769:ENST00000399121:exon9:c.T874A:p.W292R;ENSG00000134769:ENST00000597599:exon8:c.T874A:p.W292R;ENSG00000134769:ENST00000554864:exon9:c.T874A:p.W292R;ENSG00000134769:ENST00000590727:exon1:c.T124A:p.W42R;ENSG00000134769:ENST00000598774:exon8:c.T874A:p.W292R;ENSG00000134769:ENST00000315456:exon9:c.T874A:p.W292R;ENSG00000134769:ENST00000598142:exon8:c.T874A:p.W292R;	0.746024077595885	0.738
18	32398292	T	C	18	34818328	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.T874C:p.W292R;DTNA:NM_001392:exon9:c.T874C:p.W292R;DTNA:NM_032978:exon8:c.T874C:p.W292R;DTNA:NM_001390:exon7:c.T874C:p.W292R;DTNA:NM_001198938:exon9:c.T874C:p.W292R;DTNA:NM_001198943:exon1:c.T124C:p.W42R;DTNA:NM_001391:exon7:c.T874C:p.W292R;DTNA:NM_001128175:exon9:c.T874C:p.W292R;DTNA:NM_001198940:exon9:c.T874C:p.W292R;DTNA:NM_001198939:exon9:c.T874C:p.W292R;DTNA:NM_001198941:exon8:c.T874C:p.W292R;DTNA:NM_032975:exon9:c.T874C:p.W292R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.T874C:p.W292R;ENSG00000134769:ENST00000598334:exon9:c.T874C:p.W292R;ENSG00000134769:ENST00000595022:exon9:c.T874C:p.W292R;ENSG00000134769:ENST00000444659:exon7:c.T874C:p.W292R;ENSG00000134769:ENST00000269191:exon7:c.T874C:p.W292R;ENSG00000134769:ENST00000283365:exon9:c.T874C:p.W292R;ENSG00000134769:ENST00000399113:exon7:c.T874C:p.W292R;ENSG00000134769:ENST00000269190:exon9:c.T874C:p.W292R;ENSG00000134769:ENST00000399121:exon9:c.T874C:p.W292R;ENSG00000134769:ENST00000597599:exon8:c.T874C:p.W292R;ENSG00000134769:ENST00000554864:exon9:c.T874C:p.W292R;ENSG00000134769:ENST00000590727:exon1:c.T124C:p.W42R;ENSG00000134769:ENST00000598774:exon8:c.T874C:p.W292R;ENSG00000134769:ENST00000315456:exon9:c.T874C:p.W292R;ENSG00000134769:ENST00000598142:exon8:c.T874C:p.W292R;	0.723396275066965	0.71
18	32398292	T	G	18	34818328	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.T874G:p.W292G;DTNA:NM_001392:exon9:c.T874G:p.W292G;DTNA:NM_032978:exon8:c.T874G:p.W292G;DTNA:NM_001390:exon7:c.T874G:p.W292G;DTNA:NM_001198938:exon9:c.T874G:p.W292G;DTNA:NM_001198943:exon1:c.T124G:p.W42G;DTNA:NM_001391:exon7:c.T874G:p.W292G;DTNA:NM_001128175:exon9:c.T874G:p.W292G;DTNA:NM_001198940:exon9:c.T874G:p.W292G;DTNA:NM_001198939:exon9:c.T874G:p.W292G;DTNA:NM_001198941:exon8:c.T874G:p.W292G;DTNA:NM_032975:exon9:c.T874G:p.W292G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.T874G:p.W292G;ENSG00000134769:ENST00000598334:exon9:c.T874G:p.W292G;ENSG00000134769:ENST00000595022:exon9:c.T874G:p.W292G;ENSG00000134769:ENST00000444659:exon7:c.T874G:p.W292G;ENSG00000134769:ENST00000269191:exon7:c.T874G:p.W292G;ENSG00000134769:ENST00000283365:exon9:c.T874G:p.W292G;ENSG00000134769:ENST00000399113:exon7:c.T874G:p.W292G;ENSG00000134769:ENST00000269190:exon9:c.T874G:p.W292G;ENSG00000134769:ENST00000399121:exon9:c.T874G:p.W292G;ENSG00000134769:ENST00000597599:exon8:c.T874G:p.W292G;ENSG00000134769:ENST00000554864:exon9:c.T874G:p.W292G;ENSG00000134769:ENST00000590727:exon1:c.T124G:p.W42G;ENSG00000134769:ENST00000598774:exon8:c.T874G:p.W292G;ENSG00000134769:ENST00000315456:exon9:c.T874G:p.W292G;ENSG00000134769:ENST00000598142:exon8:c.T874G:p.W292G;	0.831297889619012	0.778
18	32398293	G	A	18	34818329	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon9:c.G875A:p.W292X;DTNA:NM_001392:exon9:c.G875A:p.W292X;DTNA:NM_032978:exon8:c.G875A:p.W292X;DTNA:NM_001390:exon7:c.G875A:p.W292X;DTNA:NM_001198938:exon9:c.G875A:p.W292X;DTNA:NM_001198943:exon1:c.G125A:p.W42X;DTNA:NM_001391:exon7:c.G875A:p.W292X;DTNA:NM_001128175:exon9:c.G875A:p.W292X;DTNA:NM_001198940:exon9:c.G875A:p.W292X;DTNA:NM_001198939:exon9:c.G875A:p.W292X;DTNA:NM_001198941:exon8:c.G875A:p.W292X;DTNA:NM_032975:exon9:c.G875A:p.W292X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon8:c.G875A:p.W292X;ENSG00000134769:ENST00000598334:exon9:c.G875A:p.W292X;ENSG00000134769:ENST00000595022:exon9:c.G875A:p.W292X;ENSG00000134769:ENST00000444659:exon7:c.G875A:p.W292X;ENSG00000134769:ENST00000269191:exon7:c.G875A:p.W292X;ENSG00000134769:ENST00000283365:exon9:c.G875A:p.W292X;ENSG00000134769:ENST00000399113:exon7:c.G875A:p.W292X;ENSG00000134769:ENST00000269190:exon9:c.G875A:p.W292X;ENSG00000134769:ENST00000399121:exon9:c.G875A:p.W292X;ENSG00000134769:ENST00000597599:exon8:c.G875A:p.W292X;ENSG00000134769:ENST00000554864:exon9:c.G875A:p.W292X;ENSG00000134769:ENST00000590727:exon1:c.G125A:p.W42X;ENSG00000134769:ENST00000598774:exon8:c.G875A:p.W292X;ENSG00000134769:ENST00000315456:exon9:c.G875A:p.W292X;ENSG00000134769:ENST00000598142:exon8:c.G875A:p.W292X;	0.978380249305597	0.72
18	32398293	G	C	18	34818329	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.G875C:p.W292S;DTNA:NM_001392:exon9:c.G875C:p.W292S;DTNA:NM_032978:exon8:c.G875C:p.W292S;DTNA:NM_001390:exon7:c.G875C:p.W292S;DTNA:NM_001198938:exon9:c.G875C:p.W292S;DTNA:NM_001198943:exon1:c.G125C:p.W42S;DTNA:NM_001391:exon7:c.G875C:p.W292S;DTNA:NM_001128175:exon9:c.G875C:p.W292S;DTNA:NM_001198940:exon9:c.G875C:p.W292S;DTNA:NM_001198939:exon9:c.G875C:p.W292S;DTNA:NM_001198941:exon8:c.G875C:p.W292S;DTNA:NM_032975:exon9:c.G875C:p.W292S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.G875C:p.W292S;ENSG00000134769:ENST00000598334:exon9:c.G875C:p.W292S;ENSG00000134769:ENST00000595022:exon9:c.G875C:p.W292S;ENSG00000134769:ENST00000444659:exon7:c.G875C:p.W292S;ENSG00000134769:ENST00000269191:exon7:c.G875C:p.W292S;ENSG00000134769:ENST00000283365:exon9:c.G875C:p.W292S;ENSG00000134769:ENST00000399113:exon7:c.G875C:p.W292S;ENSG00000134769:ENST00000269190:exon9:c.G875C:p.W292S;ENSG00000134769:ENST00000399121:exon9:c.G875C:p.W292S;ENSG00000134769:ENST00000597599:exon8:c.G875C:p.W292S;ENSG00000134769:ENST00000554864:exon9:c.G875C:p.W292S;ENSG00000134769:ENST00000590727:exon1:c.G125C:p.W42S;ENSG00000134769:ENST00000598774:exon8:c.G875C:p.W292S;ENSG00000134769:ENST00000315456:exon9:c.G875C:p.W292S;ENSG00000134769:ENST00000598142:exon8:c.G875C:p.W292S;	0.991161491225051	0.912
18	32398293	G	T	18	34818329	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.G875T:p.W292L;DTNA:NM_001392:exon9:c.G875T:p.W292L;DTNA:NM_032978:exon8:c.G875T:p.W292L;DTNA:NM_001390:exon7:c.G875T:p.W292L;DTNA:NM_001198938:exon9:c.G875T:p.W292L;DTNA:NM_001198943:exon1:c.G125T:p.W42L;DTNA:NM_001391:exon7:c.G875T:p.W292L;DTNA:NM_001128175:exon9:c.G875T:p.W292L;DTNA:NM_001198940:exon9:c.G875T:p.W292L;DTNA:NM_001198939:exon9:c.G875T:p.W292L;DTNA:NM_001198941:exon8:c.G875T:p.W292L;DTNA:NM_032975:exon9:c.G875T:p.W292L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.G875T:p.W292L;ENSG00000134769:ENST00000598334:exon9:c.G875T:p.W292L;ENSG00000134769:ENST00000595022:exon9:c.G875T:p.W292L;ENSG00000134769:ENST00000444659:exon7:c.G875T:p.W292L;ENSG00000134769:ENST00000269191:exon7:c.G875T:p.W292L;ENSG00000134769:ENST00000283365:exon9:c.G875T:p.W292L;ENSG00000134769:ENST00000399113:exon7:c.G875T:p.W292L;ENSG00000134769:ENST00000269190:exon9:c.G875T:p.W292L;ENSG00000134769:ENST00000399121:exon9:c.G875T:p.W292L;ENSG00000134769:ENST00000597599:exon8:c.G875T:p.W292L;ENSG00000134769:ENST00000554864:exon9:c.G875T:p.W292L;ENSG00000134769:ENST00000590727:exon1:c.G125T:p.W42L;ENSG00000134769:ENST00000598774:exon8:c.G875T:p.W292L;ENSG00000134769:ENST00000315456:exon9:c.G875T:p.W292L;ENSG00000134769:ENST00000598142:exon8:c.G875T:p.W292L;	0.994872428694494	0.93
18	32398294	G	A	18	34818330	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon9:c.G876A:p.W292X;DTNA:NM_001392:exon9:c.G876A:p.W292X;DTNA:NM_032978:exon8:c.G876A:p.W292X;DTNA:NM_001390:exon7:c.G876A:p.W292X;DTNA:NM_001198938:exon9:c.G876A:p.W292X;DTNA:NM_001198943:exon1:c.G126A:p.W42X;DTNA:NM_001391:exon7:c.G876A:p.W292X;DTNA:NM_001128175:exon9:c.G876A:p.W292X;DTNA:NM_001198940:exon9:c.G876A:p.W292X;DTNA:NM_001198939:exon9:c.G876A:p.W292X;DTNA:NM_001198941:exon8:c.G876A:p.W292X;DTNA:NM_032975:exon9:c.G876A:p.W292X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon8:c.G876A:p.W292X;ENSG00000134769:ENST00000598334:exon9:c.G876A:p.W292X;ENSG00000134769:ENST00000595022:exon9:c.G876A:p.W292X;ENSG00000134769:ENST00000444659:exon7:c.G876A:p.W292X;ENSG00000134769:ENST00000269191:exon7:c.G876A:p.W292X;ENSG00000134769:ENST00000283365:exon9:c.G876A:p.W292X;ENSG00000134769:ENST00000399113:exon7:c.G876A:p.W292X;ENSG00000134769:ENST00000269190:exon9:c.G876A:p.W292X;ENSG00000134769:ENST00000399121:exon9:c.G876A:p.W292X;ENSG00000134769:ENST00000597599:exon8:c.G876A:p.W292X;ENSG00000134769:ENST00000554864:exon9:c.G876A:p.W292X;ENSG00000134769:ENST00000590727:exon1:c.G126A:p.W42X;ENSG00000134769:ENST00000598774:exon8:c.G876A:p.W292X;ENSG00000134769:ENST00000315456:exon9:c.G876A:p.W292X;ENSG00000134769:ENST00000598142:exon8:c.G876A:p.W292X;	0.999991035940901	0.986
18	32398294	G	C	18	34818330	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.G876C:p.W292C;DTNA:NM_001392:exon9:c.G876C:p.W292C;DTNA:NM_032978:exon8:c.G876C:p.W292C;DTNA:NM_001390:exon7:c.G876C:p.W292C;DTNA:NM_001198938:exon9:c.G876C:p.W292C;DTNA:NM_001198943:exon1:c.G126C:p.W42C;DTNA:NM_001391:exon7:c.G876C:p.W292C;DTNA:NM_001128175:exon9:c.G876C:p.W292C;DTNA:NM_001198940:exon9:c.G876C:p.W292C;DTNA:NM_001198939:exon9:c.G876C:p.W292C;DTNA:NM_001198941:exon8:c.G876C:p.W292C;DTNA:NM_032975:exon9:c.G876C:p.W292C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.G876C:p.W292C;ENSG00000134769:ENST00000598334:exon9:c.G876C:p.W292C;ENSG00000134769:ENST00000595022:exon9:c.G876C:p.W292C;ENSG00000134769:ENST00000444659:exon7:c.G876C:p.W292C;ENSG00000134769:ENST00000269191:exon7:c.G876C:p.W292C;ENSG00000134769:ENST00000283365:exon9:c.G876C:p.W292C;ENSG00000134769:ENST00000399113:exon7:c.G876C:p.W292C;ENSG00000134769:ENST00000269190:exon9:c.G876C:p.W292C;ENSG00000134769:ENST00000399121:exon9:c.G876C:p.W292C;ENSG00000134769:ENST00000597599:exon8:c.G876C:p.W292C;ENSG00000134769:ENST00000554864:exon9:c.G876C:p.W292C;ENSG00000134769:ENST00000590727:exon1:c.G126C:p.W42C;ENSG00000134769:ENST00000598774:exon8:c.G876C:p.W292C;ENSG00000134769:ENST00000315456:exon9:c.G876C:p.W292C;ENSG00000134769:ENST00000598142:exon8:c.G876C:p.W292C;	0.99999721398396	0.998
18	32398294	G	T	18	34818330	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon9:c.G876T:p.W292C;DTNA:NM_001392:exon9:c.G876T:p.W292C;DTNA:NM_032978:exon8:c.G876T:p.W292C;DTNA:NM_001390:exon7:c.G876T:p.W292C;DTNA:NM_001198938:exon9:c.G876T:p.W292C;DTNA:NM_001198943:exon1:c.G126T:p.W42C;DTNA:NM_001391:exon7:c.G876T:p.W292C;DTNA:NM_001128175:exon9:c.G876T:p.W292C;DTNA:NM_001198940:exon9:c.G876T:p.W292C;DTNA:NM_001198939:exon9:c.G876T:p.W292C;DTNA:NM_001198941:exon8:c.G876T:p.W292C;DTNA:NM_032975:exon9:c.G876T:p.W292C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon8:c.G876T:p.W292C;ENSG00000134769:ENST00000598334:exon9:c.G876T:p.W292C;ENSG00000134769:ENST00000595022:exon9:c.G876T:p.W292C;ENSG00000134769:ENST00000444659:exon7:c.G876T:p.W292C;ENSG00000134769:ENST00000269191:exon7:c.G876T:p.W292C;ENSG00000134769:ENST00000283365:exon9:c.G876T:p.W292C;ENSG00000134769:ENST00000399113:exon7:c.G876T:p.W292C;ENSG00000134769:ENST00000269190:exon9:c.G876T:p.W292C;ENSG00000134769:ENST00000399121:exon9:c.G876T:p.W292C;ENSG00000134769:ENST00000597599:exon8:c.G876T:p.W292C;ENSG00000134769:ENST00000554864:exon9:c.G876T:p.W292C;ENSG00000134769:ENST00000590727:exon1:c.G126T:p.W42C;ENSG00000134769:ENST00000598774:exon8:c.G876T:p.W292C;ENSG00000134769:ENST00000315456:exon9:c.G876T:p.W292C;ENSG00000134769:ENST00000598142:exon8:c.G876T:p.W292C;	0.999980068865731	1.0
18	32398295	G	A	18	34818331	y	y	splicing	DTNA(NM_001392:exon9:c.876+1G>A;NM_032975:exon9:c.876+1G>A;NM_032979:exon9:c.876+1G>A;NM_001198940:exon9:c.876+1G>A;NM_001198939:exon9:c.876+1G>A;NM_001198938:exon9:c.876+1G>A;NM_001128175:exon9:c.876+1G>A;NM_001198941:exon8:c.876+1G>A;NM_032978:exon8:c.876+1G>A;NM_001391:exon7:c.876+1G>A;NM_001390:exon7:c.876+1G>A;NM_001198943:exon1:c.126+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.876+1G>A;ENST00000315456:exon9:c.876+1G>A;ENST00000598334:exon9:c.876+1G>A;ENST00000399121:exon9:c.876+1G>A;ENST00000554864:exon9:c.876+1G>A;ENST00000269190:exon9:c.876+1G>A;ENST00000595022:exon9:c.876+1G>A;ENST00000598142:exon8:c.876+1G>A;ENST00000598774:exon8:c.876+1G>A;ENST00000348997:exon8:c.876+1G>A;ENST00000597599:exon8:c.876+1G>A;ENST00000269191:exon7:c.876+1G>A;ENST00000444659:exon7:c.876+1G>A;ENST00000399113:exon7:c.876+1G>A;ENST00000590727:exon1:c.126+1G>A)	.	.	0.999990361384395	0.938
18	32398295	G	C	18	34818331	y	y	splicing	DTNA(NM_001392:exon9:c.876+1G>C;NM_032975:exon9:c.876+1G>C;NM_032979:exon9:c.876+1G>C;NM_001198940:exon9:c.876+1G>C;NM_001198939:exon9:c.876+1G>C;NM_001198938:exon9:c.876+1G>C;NM_001128175:exon9:c.876+1G>C;NM_001198941:exon8:c.876+1G>C;NM_032978:exon8:c.876+1G>C;NM_001391:exon7:c.876+1G>C;NM_001390:exon7:c.876+1G>C;NM_001198943:exon1:c.126+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.876+1G>C;ENST00000315456:exon9:c.876+1G>C;ENST00000598334:exon9:c.876+1G>C;ENST00000399121:exon9:c.876+1G>C;ENST00000554864:exon9:c.876+1G>C;ENST00000269190:exon9:c.876+1G>C;ENST00000595022:exon9:c.876+1G>C;ENST00000598142:exon8:c.876+1G>C;ENST00000598774:exon8:c.876+1G>C;ENST00000348997:exon8:c.876+1G>C;ENST00000597599:exon8:c.876+1G>C;ENST00000269191:exon7:c.876+1G>C;ENST00000444659:exon7:c.876+1G>C;ENST00000399113:exon7:c.876+1G>C;ENST00000590727:exon1:c.126+1G>C)	.	.	0.999990361384395	0.938
18	32398295	G	T	18	34818331	y	y	splicing	DTNA(NM_001392:exon9:c.876+1G>T;NM_032975:exon9:c.876+1G>T;NM_032979:exon9:c.876+1G>T;NM_001198940:exon9:c.876+1G>T;NM_001198939:exon9:c.876+1G>T;NM_001198938:exon9:c.876+1G>T;NM_001128175:exon9:c.876+1G>T;NM_001198941:exon8:c.876+1G>T;NM_032978:exon8:c.876+1G>T;NM_001391:exon7:c.876+1G>T;NM_001390:exon7:c.876+1G>T;NM_001198943:exon1:c.126+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.876+1G>T;ENST00000315456:exon9:c.876+1G>T;ENST00000598334:exon9:c.876+1G>T;ENST00000399121:exon9:c.876+1G>T;ENST00000554864:exon9:c.876+1G>T;ENST00000269190:exon9:c.876+1G>T;ENST00000595022:exon9:c.876+1G>T;ENST00000598142:exon8:c.876+1G>T;ENST00000598774:exon8:c.876+1G>T;ENST00000348997:exon8:c.876+1G>T;ENST00000597599:exon8:c.876+1G>T;ENST00000269191:exon7:c.876+1G>T;ENST00000444659:exon7:c.876+1G>T;ENST00000399113:exon7:c.876+1G>T;ENST00000590727:exon1:c.126+1G>T)	.	.	0.999990361384395	0.938
18	32398296	T	A	18	34818332	y	y	splicing	DTNA(NM_001392:exon9:c.876+2T>A;NM_032975:exon9:c.876+2T>A;NM_032979:exon9:c.876+2T>A;NM_001198940:exon9:c.876+2T>A;NM_001198939:exon9:c.876+2T>A;NM_001198938:exon9:c.876+2T>A;NM_001128175:exon9:c.876+2T>A;NM_001198941:exon8:c.876+2T>A;NM_032978:exon8:c.876+2T>A;NM_001391:exon7:c.876+2T>A;NM_001390:exon7:c.876+2T>A;NM_001198943:exon1:c.126+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.876+2T>A;ENST00000315456:exon9:c.876+2T>A;ENST00000598334:exon9:c.876+2T>A;ENST00000399121:exon9:c.876+2T>A;ENST00000554864:exon9:c.876+2T>A;ENST00000269190:exon9:c.876+2T>A;ENST00000595022:exon9:c.876+2T>A;ENST00000598142:exon8:c.876+2T>A;ENST00000598774:exon8:c.876+2T>A;ENST00000348997:exon8:c.876+2T>A;ENST00000597599:exon8:c.876+2T>A;ENST00000269191:exon7:c.876+2T>A;ENST00000444659:exon7:c.876+2T>A;ENST00000399113:exon7:c.876+2T>A;ENST00000590727:exon1:c.126+2T>A)	.	.	0.999988247793601	0.93
18	32398296	T	C	18	34818332	y	y	splicing	DTNA(NM_001392:exon9:c.876+2T>C;NM_032975:exon9:c.876+2T>C;NM_032979:exon9:c.876+2T>C;NM_001198940:exon9:c.876+2T>C;NM_001198939:exon9:c.876+2T>C;NM_001198938:exon9:c.876+2T>C;NM_001128175:exon9:c.876+2T>C;NM_001198941:exon8:c.876+2T>C;NM_032978:exon8:c.876+2T>C;NM_001391:exon7:c.876+2T>C;NM_001390:exon7:c.876+2T>C;NM_001198943:exon1:c.126+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.876+2T>C;ENST00000315456:exon9:c.876+2T>C;ENST00000598334:exon9:c.876+2T>C;ENST00000399121:exon9:c.876+2T>C;ENST00000554864:exon9:c.876+2T>C;ENST00000269190:exon9:c.876+2T>C;ENST00000595022:exon9:c.876+2T>C;ENST00000598142:exon8:c.876+2T>C;ENST00000598774:exon8:c.876+2T>C;ENST00000348997:exon8:c.876+2T>C;ENST00000597599:exon8:c.876+2T>C;ENST00000269191:exon7:c.876+2T>C;ENST00000444659:exon7:c.876+2T>C;ENST00000399113:exon7:c.876+2T>C;ENST00000590727:exon1:c.126+2T>C)	.	.	0.99991522016916	0.886
18	32398296	T	G	18	34818332	y	y	splicing	DTNA(NM_001392:exon9:c.876+2T>G;NM_032975:exon9:c.876+2T>G;NM_032979:exon9:c.876+2T>G;NM_001198940:exon9:c.876+2T>G;NM_001198939:exon9:c.876+2T>G;NM_001198938:exon9:c.876+2T>G;NM_001128175:exon9:c.876+2T>G;NM_001198941:exon8:c.876+2T>G;NM_032978:exon8:c.876+2T>G;NM_001391:exon7:c.876+2T>G;NM_001390:exon7:c.876+2T>G;NM_001198943:exon1:c.126+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon9:c.876+2T>G;ENST00000315456:exon9:c.876+2T>G;ENST00000598334:exon9:c.876+2T>G;ENST00000399121:exon9:c.876+2T>G;ENST00000554864:exon9:c.876+2T>G;ENST00000269190:exon9:c.876+2T>G;ENST00000595022:exon9:c.876+2T>G;ENST00000598142:exon8:c.876+2T>G;ENST00000598774:exon8:c.876+2T>G;ENST00000348997:exon8:c.876+2T>G;ENST00000597599:exon8:c.876+2T>G;ENST00000269191:exon7:c.876+2T>G;ENST00000444659:exon7:c.876+2T>G;ENST00000399113:exon7:c.876+2T>G;ENST00000590727:exon1:c.126+2T>G)	.	.	0.999988247793601	0.93
18	32398297	A	C	18	34818333	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999928721993148	0.93
18	32398297	A	G	18	34818333	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998013268347109	0.752
18	32398297	A	T	18	34818333	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999940399233724	0.966
18	32398298	A	C	18	34818334	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998477309850164	0.952
18	32398298	A	G	18	34818334	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998468914225679	0.968
18	32398298	A	T	18	34818334	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999203405203813	0.942
18	32398299	G	A	18	34818335	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999652528148858	0.964
18	32398299	G	C	18	34818335	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999763420047597	0.962
18	32398299	G	T	18	34818335	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999802551260335	0.948
18	32398300	G	A	18	34818336	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00112590160119414	0.192
18	32398300	G	C	18	34818336	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00289253425374725	0.262
18	32398300	G	T	18	34818336	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	3.57374921770344E-4	0.038
18	32398301	C	A	18	34818337	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	3.07679530106922E-4	0.014
18	32398301	C	G	18	34818337	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	3.1490811071684E-4	0.026
18	32398301	C	T	18	34818337	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	1.13120519343681E-4	0.016
18	32398302	A	C	18	34818338	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	5.07082155376563E-4	0.014
18	32398302	A	G	18	34818338	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	4.04234282771533E-4	0.014
18	32398302	A	T	18	34818338	y	y	UTR5	DTNA	.	.	intronic	ENSG00000134769	.	.	2.08568368696572E-4	0.052
18	32398609	A	C	18	34818645	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.68007268283184E-4	0.022
18	32398609	A	G	18	34818645	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.26265784421591E-4	0.022
18	32398609	A	T	18	34818645	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.45235216632395E-4	0.022
18	32398610	C	A	18	34818646	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.74480241737554E-4	0.0
18	32398610	C	G	18	34818646	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.74480241737554E-4	0.0
18	32398610	C	T	18	34818646	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.74480241737554E-4	0.0
18	32398611	A	C	18	34818647	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	5.50552619103442E-5	0.034
18	32398611	A	G	18	34818647	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	5.50552619103442E-5	0.016
18	32398611	A	T	18	34818647	y	y	UTR5	DTNA	.	.	UTR5	ENSG00000134769	.	.	4.11713759611921E-5	0.0
18	32398612	G	A	18	34818648	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.00696388467382607	0.03
18	32398612	G	C	18	34818648	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.00696388467382607	0.036
18	32398612	G	T	18	34818648	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	0.00696388467382607	0.03
18	32398613	T	A	18	34818649	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	5.42752065703449E-4	0.02
18	32398613	T	C	18	34818649	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	5.42752065703449E-4	0.02
18	32398613	T	G	18	34818649	y	y	splicing	DTNA	.	.	splicing	ENSG00000134769	.	.	5.42752065703449E-4	0.02
18	32398614	A	C	18	34818650	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.17825650598919E-5	0.002
18	32398614	A	G	18	34818650	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.17825650598919E-5	0.012
18	32398614	A	T	18	34818650	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.17825650598919E-5	0.0
18	32398615	A	C	18	34818651	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.24770439103886E-4	0.02
18	32398615	A	G	18	34818651	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.24770439103886E-4	0.02
18	32398615	A	T	18	34818651	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.24770439103886E-4	0.018
18	32398616	G	A	18	34818652	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.28503360684942E-5	0.03
18	32398616	G	C	18	34818652	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.28503360684942E-5	0.03
18	32398616	G	T	18	34818652	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.28503360684942E-5	0.03
18	32398617	T	A	18	34818653	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.41256482875619E-5	0.0
18	32398617	T	C	18	34818653	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.2358802390823E-5	0.0
18	32398617	T	G	18	34818653	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.2358802390823E-5	0.0
18	32398618	T	A	18	34818654	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.66982619474429E-5	0.006
18	32398618	T	C	18	34818654	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.66982619474429E-5	0.006
18	32398618	T	G	18	34818654	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.66982619474429E-5	0.006
18	32398619	A	C	18	34818655	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.66982619474429E-5	0.008
18	32398619	A	G	18	34818655	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.66982619474429E-5	0.008
18	32398619	A	T	18	34818655	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.66982619474429E-5	0.006
18	32400743	T	A	18	34820779	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.822868351229774	0.602
18	32400743	T	C	18	34820779	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.639330626785753	0.448
18	32400743	T	G	18	34820779	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.6574664243646	0.542
18	32400744	C	A	18	34820780	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.17656739816797E-4	0.098
18	32400744	C	G	18	34820780	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.36317223055868E-5	0.064
18	32400744	C	T	18	34820780	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.76672756117797E-4	0.258
18	32400745	T	A	18	34820781	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.265721456505E-5	0.142
18	32400745	T	C	18	34820781	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.18104597510541E-6	0.072
18	32400745	T	G	18	34820781	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.11155484824354E-5	0.116
18	32400746	T	A	18	34820782	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0143697495830364	0.224
18	32400746	T	C	18	34820782	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00168712768984592	0.092
18	32400746	T	G	18	34820782	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0103300269055204	0.13
18	32400747	C	A	18	34820783	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00411678400486283	0.09
18	32400747	C	G	18	34820783	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00408554725907883	0.118
18	32400747	C	T	18	34820783	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00708919853388093	0.036
18	32400748	T	A	18	34820784	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00275521441152708	0.084
18	32400748	T	C	18	34820784	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.45765167773943E-4	0.02
18	32400748	T	G	18	34820784	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00118692824491381	0.048
18	32400749	T	A	18	34820785	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.85480120281497E-4	0.138
18	32400749	T	C	18	34820785	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.0623876787845E-5	0.026
18	32400749	T	G	18	34820785	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00104102470247221	0.134
18	32400750	T	A	18	34820786	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.88265437109266E-5	0.086
18	32400750	T	C	18	34820786	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.42237591740209E-4	0.008
18	32400750	T	G	18	34820786	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.35024179665533E-4	0.166
18	32400751	C	A	18	34820787	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.85011851959082E-5	0.004
18	32400751	C	G	18	34820787	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.33571036527734E-5	0.0
18	32400751	C	T	18	34820787	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.85011851959082E-5	0.002
18	32400752	C	A	18	34820788	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.471922408050761	0.478
18	32400752	C	G	18	34820788	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.974674647645893	0.744
18	32400752	C	T	18	34820788	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.80372757921902E-4	0.154
18	32400753	A	C	18	34820789	y	y	splicing	DTNA(NM_001392:exon10:c.877-2A>C;NM_032975:exon10:c.877-2A>C;NM_032979:exon10:c.877-2A>C;NM_001198940:exon10:c.877-2A>C;NM_001198939:exon10:c.877-2A>C;NM_001198938:exon10:c.877-2A>C;NM_001128175:exon10:c.877-2A>C;NM_001198941:exon9:c.877-2A>C;NM_032978:exon9:c.877-2A>C;NM_001391:exon8:c.877-2A>C;NM_001390:exon8:c.877-2A>C;NM_001198943:exon2:c.127-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.877-2A>C;ENST00000315456:exon10:c.877-2A>C;ENST00000598334:exon10:c.877-2A>C;ENST00000399121:exon10:c.877-2A>C;ENST00000554864:exon10:c.877-2A>C;ENST00000269190:exon10:c.877-2A>C;ENST00000595022:exon10:c.877-2A>C;ENST00000598142:exon9:c.877-2A>C;ENST00000598774:exon9:c.877-2A>C;ENST00000348997:exon9:c.877-2A>C;ENST00000597599:exon9:c.877-2A>C;ENST00000269191:exon8:c.877-2A>C;ENST00000444659:exon8:c.877-2A>C;ENST00000399113:exon8:c.877-2A>C;ENST00000590727:exon2:c.127-2A>C)	.	.	0.999988247793601	0.93
18	32400753	A	G	18	34820789	y	y	splicing	DTNA(NM_001392:exon10:c.877-2A>G;NM_032975:exon10:c.877-2A>G;NM_032979:exon10:c.877-2A>G;NM_001198940:exon10:c.877-2A>G;NM_001198939:exon10:c.877-2A>G;NM_001198938:exon10:c.877-2A>G;NM_001128175:exon10:c.877-2A>G;NM_001198941:exon9:c.877-2A>G;NM_032978:exon9:c.877-2A>G;NM_001391:exon8:c.877-2A>G;NM_001390:exon8:c.877-2A>G;NM_001198943:exon2:c.127-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.877-2A>G;ENST00000315456:exon10:c.877-2A>G;ENST00000598334:exon10:c.877-2A>G;ENST00000399121:exon10:c.877-2A>G;ENST00000554864:exon10:c.877-2A>G;ENST00000269190:exon10:c.877-2A>G;ENST00000595022:exon10:c.877-2A>G;ENST00000598142:exon9:c.877-2A>G;ENST00000598774:exon9:c.877-2A>G;ENST00000348997:exon9:c.877-2A>G;ENST00000597599:exon9:c.877-2A>G;ENST00000269191:exon8:c.877-2A>G;ENST00000444659:exon8:c.877-2A>G;ENST00000399113:exon8:c.877-2A>G;ENST00000590727:exon2:c.127-2A>G)	.	.	0.999988247793601	0.93
18	32400753	A	T	18	34820789	y	y	splicing	DTNA(NM_001392:exon10:c.877-2A>T;NM_032975:exon10:c.877-2A>T;NM_032979:exon10:c.877-2A>T;NM_001198940:exon10:c.877-2A>T;NM_001198939:exon10:c.877-2A>T;NM_001198938:exon10:c.877-2A>T;NM_001128175:exon10:c.877-2A>T;NM_001198941:exon9:c.877-2A>T;NM_032978:exon9:c.877-2A>T;NM_001391:exon8:c.877-2A>T;NM_001390:exon8:c.877-2A>T;NM_001198943:exon2:c.127-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.877-2A>T;ENST00000315456:exon10:c.877-2A>T;ENST00000598334:exon10:c.877-2A>T;ENST00000399121:exon10:c.877-2A>T;ENST00000554864:exon10:c.877-2A>T;ENST00000269190:exon10:c.877-2A>T;ENST00000595022:exon10:c.877-2A>T;ENST00000598142:exon9:c.877-2A>T;ENST00000598774:exon9:c.877-2A>T;ENST00000348997:exon9:c.877-2A>T;ENST00000597599:exon9:c.877-2A>T;ENST00000269191:exon8:c.877-2A>T;ENST00000444659:exon8:c.877-2A>T;ENST00000399113:exon8:c.877-2A>T;ENST00000590727:exon2:c.127-2A>T)	.	.	0.999988247793601	0.93
18	32400754	G	A	18	34820790	y	y	splicing	DTNA(NM_001392:exon10:c.877-1G>A;NM_032975:exon10:c.877-1G>A;NM_032979:exon10:c.877-1G>A;NM_001198940:exon10:c.877-1G>A;NM_001198939:exon10:c.877-1G>A;NM_001198938:exon10:c.877-1G>A;NM_001128175:exon10:c.877-1G>A;NM_001198941:exon9:c.877-1G>A;NM_032978:exon9:c.877-1G>A;NM_001391:exon8:c.877-1G>A;NM_001390:exon8:c.877-1G>A;NM_001198943:exon2:c.127-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.877-1G>A;ENST00000315456:exon10:c.877-1G>A;ENST00000598334:exon10:c.877-1G>A;ENST00000399121:exon10:c.877-1G>A;ENST00000554864:exon10:c.877-1G>A;ENST00000269190:exon10:c.877-1G>A;ENST00000595022:exon10:c.877-1G>A;ENST00000598142:exon9:c.877-1G>A;ENST00000598774:exon9:c.877-1G>A;ENST00000348997:exon9:c.877-1G>A;ENST00000597599:exon9:c.877-1G>A;ENST00000269191:exon8:c.877-1G>A;ENST00000444659:exon8:c.877-1G>A;ENST00000399113:exon8:c.877-1G>A;ENST00000590727:exon2:c.127-1G>A)	.	.	0.999989072007339	0.934
18	32400754	G	C	18	34820790	y	y	splicing	DTNA(NM_001392:exon10:c.877-1G>C;NM_032975:exon10:c.877-1G>C;NM_032979:exon10:c.877-1G>C;NM_001198940:exon10:c.877-1G>C;NM_001198939:exon10:c.877-1G>C;NM_001198938:exon10:c.877-1G>C;NM_001128175:exon10:c.877-1G>C;NM_001198941:exon9:c.877-1G>C;NM_032978:exon9:c.877-1G>C;NM_001391:exon8:c.877-1G>C;NM_001390:exon8:c.877-1G>C;NM_001198943:exon2:c.127-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.877-1G>C;ENST00000315456:exon10:c.877-1G>C;ENST00000598334:exon10:c.877-1G>C;ENST00000399121:exon10:c.877-1G>C;ENST00000554864:exon10:c.877-1G>C;ENST00000269190:exon10:c.877-1G>C;ENST00000595022:exon10:c.877-1G>C;ENST00000598142:exon9:c.877-1G>C;ENST00000598774:exon9:c.877-1G>C;ENST00000348997:exon9:c.877-1G>C;ENST00000597599:exon9:c.877-1G>C;ENST00000269191:exon8:c.877-1G>C;ENST00000444659:exon8:c.877-1G>C;ENST00000399113:exon8:c.877-1G>C;ENST00000590727:exon2:c.127-1G>C)	.	.	0.999989072007339	0.934
18	32400754	G	T	18	34820790	y	y	splicing	DTNA(NM_001392:exon10:c.877-1G>T;NM_032975:exon10:c.877-1G>T;NM_032979:exon10:c.877-1G>T;NM_001198940:exon10:c.877-1G>T;NM_001198939:exon10:c.877-1G>T;NM_001198938:exon10:c.877-1G>T;NM_001128175:exon10:c.877-1G>T;NM_001198941:exon9:c.877-1G>T;NM_032978:exon9:c.877-1G>T;NM_001391:exon8:c.877-1G>T;NM_001390:exon8:c.877-1G>T;NM_001198943:exon2:c.127-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.877-1G>T;ENST00000315456:exon10:c.877-1G>T;ENST00000598334:exon10:c.877-1G>T;ENST00000399121:exon10:c.877-1G>T;ENST00000554864:exon10:c.877-1G>T;ENST00000269190:exon10:c.877-1G>T;ENST00000595022:exon10:c.877-1G>T;ENST00000598142:exon9:c.877-1G>T;ENST00000598774:exon9:c.877-1G>T;ENST00000348997:exon9:c.877-1G>T;ENST00000597599:exon9:c.877-1G>T;ENST00000269191:exon8:c.877-1G>T;ENST00000444659:exon8:c.877-1G>T;ENST00000399113:exon8:c.877-1G>T;ENST00000590727:exon2:c.127-1G>T)	.	.	0.999989072007339	0.934
18	32400755	A	C	18	34820791	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.A877C:p.K293Q;DTNA:NM_001392:exon10:c.A877C:p.K293Q;DTNA:NM_032978:exon9:c.A877C:p.K293Q;DTNA:NM_001390:exon8:c.A877C:p.K293Q;DTNA:NM_001198938:exon10:c.A877C:p.K293Q;DTNA:NM_001198943:exon2:c.A127C:p.K43Q;DTNA:NM_001391:exon8:c.A877C:p.K293Q;DTNA:NM_001128175:exon10:c.A877C:p.K293Q;DTNA:NM_001198940:exon10:c.A877C:p.K293Q;DTNA:NM_001198939:exon10:c.A877C:p.K293Q;DTNA:NM_001198941:exon9:c.A877C:p.K293Q;DTNA:NM_032975:exon10:c.A877C:p.K293Q;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.A877C:p.K293Q;ENSG00000134769:ENST00000598334:exon10:c.A877C:p.K293Q;ENSG00000134769:ENST00000595022:exon10:c.A877C:p.K293Q;ENSG00000134769:ENST00000444659:exon8:c.A877C:p.K293Q;ENSG00000134769:ENST00000269191:exon8:c.A877C:p.K293Q;ENSG00000134769:ENST00000283365:exon10:c.A877C:p.K293Q;ENSG00000134769:ENST00000399113:exon8:c.A877C:p.K293Q;ENSG00000134769:ENST00000269190:exon10:c.A877C:p.K293Q;ENSG00000134769:ENST00000399121:exon10:c.A877C:p.K293Q;ENSG00000134769:ENST00000597599:exon9:c.A877C:p.K293Q;ENSG00000134769:ENST00000554864:exon10:c.A877C:p.K293Q;ENSG00000134769:ENST00000590727:exon2:c.A127C:p.K43Q;ENSG00000134769:ENST00000598774:exon9:c.A877C:p.K293Q;ENSG00000134769:ENST00000315456:exon10:c.A877C:p.K293Q;ENSG00000134769:ENST00000598142:exon9:c.A877C:p.K293Q;	0.593915508354291	0.608
18	32400755	A	G	18	34820791	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.A877G:p.K293E;DTNA:NM_001392:exon10:c.A877G:p.K293E;DTNA:NM_032978:exon9:c.A877G:p.K293E;DTNA:NM_001390:exon8:c.A877G:p.K293E;DTNA:NM_001198938:exon10:c.A877G:p.K293E;DTNA:NM_001198943:exon2:c.A127G:p.K43E;DTNA:NM_001391:exon8:c.A877G:p.K293E;DTNA:NM_001128175:exon10:c.A877G:p.K293E;DTNA:NM_001198940:exon10:c.A877G:p.K293E;DTNA:NM_001198939:exon10:c.A877G:p.K293E;DTNA:NM_001198941:exon9:c.A877G:p.K293E;DTNA:NM_032975:exon10:c.A877G:p.K293E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.A877G:p.K293E;ENSG00000134769:ENST00000598334:exon10:c.A877G:p.K293E;ENSG00000134769:ENST00000595022:exon10:c.A877G:p.K293E;ENSG00000134769:ENST00000444659:exon8:c.A877G:p.K293E;ENSG00000134769:ENST00000269191:exon8:c.A877G:p.K293E;ENSG00000134769:ENST00000283365:exon10:c.A877G:p.K293E;ENSG00000134769:ENST00000399113:exon8:c.A877G:p.K293E;ENSG00000134769:ENST00000269190:exon10:c.A877G:p.K293E;ENSG00000134769:ENST00000399121:exon10:c.A877G:p.K293E;ENSG00000134769:ENST00000597599:exon9:c.A877G:p.K293E;ENSG00000134769:ENST00000554864:exon10:c.A877G:p.K293E;ENSG00000134769:ENST00000590727:exon2:c.A127G:p.K43E;ENSG00000134769:ENST00000598774:exon9:c.A877G:p.K293E;ENSG00000134769:ENST00000315456:exon10:c.A877G:p.K293E;ENSG00000134769:ENST00000598142:exon9:c.A877G:p.K293E;	0.756401985716327	0.674
18	32400755	A	T	18	34820791	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon10:c.A877T:p.K293X;DTNA:NM_001392:exon10:c.A877T:p.K293X;DTNA:NM_032978:exon9:c.A877T:p.K293X;DTNA:NM_001390:exon8:c.A877T:p.K293X;DTNA:NM_001198938:exon10:c.A877T:p.K293X;DTNA:NM_001198943:exon2:c.A127T:p.K43X;DTNA:NM_001391:exon8:c.A877T:p.K293X;DTNA:NM_001128175:exon10:c.A877T:p.K293X;DTNA:NM_001198940:exon10:c.A877T:p.K293X;DTNA:NM_001198939:exon10:c.A877T:p.K293X;DTNA:NM_001198941:exon9:c.A877T:p.K293X;DTNA:NM_032975:exon10:c.A877T:p.K293X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon9:c.A877T:p.K293X;ENSG00000134769:ENST00000598334:exon10:c.A877T:p.K293X;ENSG00000134769:ENST00000595022:exon10:c.A877T:p.K293X;ENSG00000134769:ENST00000444659:exon8:c.A877T:p.K293X;ENSG00000134769:ENST00000269191:exon8:c.A877T:p.K293X;ENSG00000134769:ENST00000283365:exon10:c.A877T:p.K293X;ENSG00000134769:ENST00000399113:exon8:c.A877T:p.K293X;ENSG00000134769:ENST00000269190:exon10:c.A877T:p.K293X;ENSG00000134769:ENST00000399121:exon10:c.A877T:p.K293X;ENSG00000134769:ENST00000597599:exon9:c.A877T:p.K293X;ENSG00000134769:ENST00000554864:exon10:c.A877T:p.K293X;ENSG00000134769:ENST00000590727:exon2:c.A127T:p.K43X;ENSG00000134769:ENST00000598774:exon9:c.A877T:p.K293X;ENSG00000134769:ENST00000315456:exon10:c.A877T:p.K293X;ENSG00000134769:ENST00000598142:exon9:c.A877T:p.K293X;	0.652843712025115	0.626
18	32400756	A	C	18	34820792	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.A878C:p.K293T;DTNA:NM_001392:exon10:c.A878C:p.K293T;DTNA:NM_032978:exon9:c.A878C:p.K293T;DTNA:NM_001390:exon8:c.A878C:p.K293T;DTNA:NM_001198938:exon10:c.A878C:p.K293T;DTNA:NM_001198943:exon2:c.A128C:p.K43T;DTNA:NM_001391:exon8:c.A878C:p.K293T;DTNA:NM_001128175:exon10:c.A878C:p.K293T;DTNA:NM_001198940:exon10:c.A878C:p.K293T;DTNA:NM_001198939:exon10:c.A878C:p.K293T;DTNA:NM_001198941:exon9:c.A878C:p.K293T;DTNA:NM_032975:exon10:c.A878C:p.K293T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.A878C:p.K293T;ENSG00000134769:ENST00000598334:exon10:c.A878C:p.K293T;ENSG00000134769:ENST00000595022:exon10:c.A878C:p.K293T;ENSG00000134769:ENST00000444659:exon8:c.A878C:p.K293T;ENSG00000134769:ENST00000269191:exon8:c.A878C:p.K293T;ENSG00000134769:ENST00000283365:exon10:c.A878C:p.K293T;ENSG00000134769:ENST00000399113:exon8:c.A878C:p.K293T;ENSG00000134769:ENST00000269190:exon10:c.A878C:p.K293T;ENSG00000134769:ENST00000399121:exon10:c.A878C:p.K293T;ENSG00000134769:ENST00000597599:exon9:c.A878C:p.K293T;ENSG00000134769:ENST00000554864:exon10:c.A878C:p.K293T;ENSG00000134769:ENST00000590727:exon2:c.A128C:p.K43T;ENSG00000134769:ENST00000598774:exon9:c.A878C:p.K293T;ENSG00000134769:ENST00000315456:exon10:c.A878C:p.K293T;ENSG00000134769:ENST00000598142:exon9:c.A878C:p.K293T;	0.938247862962556	0.726
18	32400756	A	G	18	34820792	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.A878G:p.K293R;DTNA:NM_001392:exon10:c.A878G:p.K293R;DTNA:NM_032978:exon9:c.A878G:p.K293R;DTNA:NM_001390:exon8:c.A878G:p.K293R;DTNA:NM_001198938:exon10:c.A878G:p.K293R;DTNA:NM_001198943:exon2:c.A128G:p.K43R;DTNA:NM_001391:exon8:c.A878G:p.K293R;DTNA:NM_001128175:exon10:c.A878G:p.K293R;DTNA:NM_001198940:exon10:c.A878G:p.K293R;DTNA:NM_001198939:exon10:c.A878G:p.K293R;DTNA:NM_001198941:exon9:c.A878G:p.K293R;DTNA:NM_032975:exon10:c.A878G:p.K293R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.A878G:p.K293R;ENSG00000134769:ENST00000598334:exon10:c.A878G:p.K293R;ENSG00000134769:ENST00000595022:exon10:c.A878G:p.K293R;ENSG00000134769:ENST00000444659:exon8:c.A878G:p.K293R;ENSG00000134769:ENST00000269191:exon8:c.A878G:p.K293R;ENSG00000134769:ENST00000283365:exon10:c.A878G:p.K293R;ENSG00000134769:ENST00000399113:exon8:c.A878G:p.K293R;ENSG00000134769:ENST00000269190:exon10:c.A878G:p.K293R;ENSG00000134769:ENST00000399121:exon10:c.A878G:p.K293R;ENSG00000134769:ENST00000597599:exon9:c.A878G:p.K293R;ENSG00000134769:ENST00000554864:exon10:c.A878G:p.K293R;ENSG00000134769:ENST00000590727:exon2:c.A128G:p.K43R;ENSG00000134769:ENST00000598774:exon9:c.A878G:p.K293R;ENSG00000134769:ENST00000315456:exon10:c.A878G:p.K293R;ENSG00000134769:ENST00000598142:exon9:c.A878G:p.K293R;	0.941740179483262	0.502
18	32400756	A	T	18	34820792	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.A878T:p.K293I;DTNA:NM_001392:exon10:c.A878T:p.K293I;DTNA:NM_032978:exon9:c.A878T:p.K293I;DTNA:NM_001390:exon8:c.A878T:p.K293I;DTNA:NM_001198938:exon10:c.A878T:p.K293I;DTNA:NM_001198943:exon2:c.A128T:p.K43I;DTNA:NM_001391:exon8:c.A878T:p.K293I;DTNA:NM_001128175:exon10:c.A878T:p.K293I;DTNA:NM_001198940:exon10:c.A878T:p.K293I;DTNA:NM_001198939:exon10:c.A878T:p.K293I;DTNA:NM_001198941:exon9:c.A878T:p.K293I;DTNA:NM_032975:exon10:c.A878T:p.K293I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.A878T:p.K293I;ENSG00000134769:ENST00000598334:exon10:c.A878T:p.K293I;ENSG00000134769:ENST00000595022:exon10:c.A878T:p.K293I;ENSG00000134769:ENST00000444659:exon8:c.A878T:p.K293I;ENSG00000134769:ENST00000269191:exon8:c.A878T:p.K293I;ENSG00000134769:ENST00000283365:exon10:c.A878T:p.K293I;ENSG00000134769:ENST00000399113:exon8:c.A878T:p.K293I;ENSG00000134769:ENST00000269190:exon10:c.A878T:p.K293I;ENSG00000134769:ENST00000399121:exon10:c.A878T:p.K293I;ENSG00000134769:ENST00000597599:exon9:c.A878T:p.K293I;ENSG00000134769:ENST00000554864:exon10:c.A878T:p.K293I;ENSG00000134769:ENST00000590727:exon2:c.A128T:p.K43I;ENSG00000134769:ENST00000598774:exon9:c.A878T:p.K293I;ENSG00000134769:ENST00000315456:exon10:c.A878T:p.K293I;ENSG00000134769:ENST00000598142:exon9:c.A878T:p.K293I;	0.874295020820356	0.708
18	32400877	C	A	18	34820913	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon10:c.C999A:p.I333I;DTNA:NM_001392:exon10:c.C999A:p.I333I;DTNA:NM_032978:exon9:c.C999A:p.I333I;DTNA:NM_001390:exon8:c.C999A:p.I333I;DTNA:NM_001198938:exon10:c.C999A:p.I333I;DTNA:NM_001198943:exon2:c.C249A:p.I83I;DTNA:NM_001198942:exon2:c.C45A:p.I15I;DTNA:NM_001198944:exon2:c.C45A:p.I15I;DTNA:NM_001391:exon8:c.C999A:p.I333I;DTNA:NM_032981:exon2:c.C45A:p.I15I;DTNA:NM_001128175:exon10:c.C999A:p.I333I;DTNA:NM_001198940:exon10:c.C999A:p.I333I;DTNA:NM_001198939:exon10:c.C999A:p.I333I;DTNA:NM_001198941:exon9:c.C999A:p.I333I;DTNA:NM_032980:exon2:c.C45A:p.I15I;DTNA:NM_032975:exon10:c.C999A:p.I333I;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.C999A:p.I333I;ENSG00000134769:ENST00000399097:exon10:c.C45A:p.I15I;ENSG00000134769:ENST00000598334:exon10:c.C999A:p.I333I;ENSG00000134769:ENST00000595022:exon10:c.C999A:p.I333I;ENSG00000134769:ENST00000444659:exon8:c.C999A:p.I333I;ENSG00000134769:ENST00000269191:exon8:c.C999A:p.I333I;ENSG00000134769:ENST00000283365:exon10:c.C999A:p.I333I;ENSG00000134769:ENST00000399113:exon8:c.C999A:p.I333I;ENSG00000134769:ENST00000599844:exon2:c.C45A:p.I15I;ENSG00000134769:ENST00000556414:exon2:c.C45A:p.I15I;ENSG00000134769:ENST00000269190:exon10:c.C999A:p.I333I;ENSG00000134769:ENST00000399121:exon10:c.C999A:p.I333I;ENSG00000134769:ENST00000269192:exon2:c.C45A:p.I15I;ENSG00000134769:ENST00000597599:exon9:c.C999A:p.I333I;ENSG00000134769:ENST00000554864:exon10:c.C999A:p.I333I;ENSG00000134769:ENST00000590727:exon2:c.C249A:p.I83I;ENSG00000134769:ENST00000597674:exon2:c.C45A:p.I15I;ENSG00000134769:ENST00000591182:exon2:c.C45A:p.I15I;ENSG00000134769:ENST00000598774:exon9:c.C999A:p.I333I;ENSG00000134769:ENST00000315456:exon10:c.C999A:p.I333I;ENSG00000134769:ENST00000598142:exon9:c.C999A:p.I333I;ENSG00000134769:ENST00000601125:exon2:c.C45A:p.I15I;	2.72236462580043E-4	0.044
18	32400877	C	G	18	34820913	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.C999G:p.I333M;DTNA:NM_001392:exon10:c.C999G:p.I333M;DTNA:NM_032978:exon9:c.C999G:p.I333M;DTNA:NM_001390:exon8:c.C999G:p.I333M;DTNA:NM_001198938:exon10:c.C999G:p.I333M;DTNA:NM_001198943:exon2:c.C249G:p.I83M;DTNA:NM_001198942:exon2:c.C45G:p.I15M;DTNA:NM_001198944:exon2:c.C45G:p.I15M;DTNA:NM_001391:exon8:c.C999G:p.I333M;DTNA:NM_032981:exon2:c.C45G:p.I15M;DTNA:NM_001128175:exon10:c.C999G:p.I333M;DTNA:NM_001198940:exon10:c.C999G:p.I333M;DTNA:NM_001198939:exon10:c.C999G:p.I333M;DTNA:NM_001198941:exon9:c.C999G:p.I333M;DTNA:NM_032980:exon2:c.C45G:p.I15M;DTNA:NM_032975:exon10:c.C999G:p.I333M;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.C999G:p.I333M;ENSG00000134769:ENST00000399097:exon10:c.C45G:p.I15M;ENSG00000134769:ENST00000598334:exon10:c.C999G:p.I333M;ENSG00000134769:ENST00000595022:exon10:c.C999G:p.I333M;ENSG00000134769:ENST00000444659:exon8:c.C999G:p.I333M;ENSG00000134769:ENST00000269191:exon8:c.C999G:p.I333M;ENSG00000134769:ENST00000283365:exon10:c.C999G:p.I333M;ENSG00000134769:ENST00000399113:exon8:c.C999G:p.I333M;ENSG00000134769:ENST00000599844:exon2:c.C45G:p.I15M;ENSG00000134769:ENST00000556414:exon2:c.C45G:p.I15M;ENSG00000134769:ENST00000269190:exon10:c.C999G:p.I333M;ENSG00000134769:ENST00000399121:exon10:c.C999G:p.I333M;ENSG00000134769:ENST00000269192:exon2:c.C45G:p.I15M;ENSG00000134769:ENST00000597599:exon9:c.C999G:p.I333M;ENSG00000134769:ENST00000554864:exon10:c.C999G:p.I333M;ENSG00000134769:ENST00000590727:exon2:c.C249G:p.I83M;ENSG00000134769:ENST00000597674:exon2:c.C45G:p.I15M;ENSG00000134769:ENST00000591182:exon2:c.C45G:p.I15M;ENSG00000134769:ENST00000598774:exon9:c.C999G:p.I333M;ENSG00000134769:ENST00000315456:exon10:c.C999G:p.I333M;ENSG00000134769:ENST00000598142:exon9:c.C999G:p.I333M;ENSG00000134769:ENST00000601125:exon2:c.C45G:p.I15M;	0.00121079083916581	0.232
18	32400877	C	T	18	34820913	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon10:c.C999T:p.I333I;DTNA:NM_001392:exon10:c.C999T:p.I333I;DTNA:NM_032978:exon9:c.C999T:p.I333I;DTNA:NM_001390:exon8:c.C999T:p.I333I;DTNA:NM_001198938:exon10:c.C999T:p.I333I;DTNA:NM_001198943:exon2:c.C249T:p.I83I;DTNA:NM_001198942:exon2:c.C45T:p.I15I;DTNA:NM_001198944:exon2:c.C45T:p.I15I;DTNA:NM_001391:exon8:c.C999T:p.I333I;DTNA:NM_032981:exon2:c.C45T:p.I15I;DTNA:NM_001128175:exon10:c.C999T:p.I333I;DTNA:NM_001198940:exon10:c.C999T:p.I333I;DTNA:NM_001198939:exon10:c.C999T:p.I333I;DTNA:NM_001198941:exon9:c.C999T:p.I333I;DTNA:NM_032980:exon2:c.C45T:p.I15I;DTNA:NM_032975:exon10:c.C999T:p.I333I;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.C999T:p.I333I;ENSG00000134769:ENST00000399097:exon10:c.C45T:p.I15I;ENSG00000134769:ENST00000598334:exon10:c.C999T:p.I333I;ENSG00000134769:ENST00000595022:exon10:c.C999T:p.I333I;ENSG00000134769:ENST00000444659:exon8:c.C999T:p.I333I;ENSG00000134769:ENST00000269191:exon8:c.C999T:p.I333I;ENSG00000134769:ENST00000283365:exon10:c.C999T:p.I333I;ENSG00000134769:ENST00000399113:exon8:c.C999T:p.I333I;ENSG00000134769:ENST00000599844:exon2:c.C45T:p.I15I;ENSG00000134769:ENST00000556414:exon2:c.C45T:p.I15I;ENSG00000134769:ENST00000269190:exon10:c.C999T:p.I333I;ENSG00000134769:ENST00000399121:exon10:c.C999T:p.I333I;ENSG00000134769:ENST00000269192:exon2:c.C45T:p.I15I;ENSG00000134769:ENST00000597599:exon9:c.C999T:p.I333I;ENSG00000134769:ENST00000554864:exon10:c.C999T:p.I333I;ENSG00000134769:ENST00000590727:exon2:c.C249T:p.I83I;ENSG00000134769:ENST00000597674:exon2:c.C45T:p.I15I;ENSG00000134769:ENST00000591182:exon2:c.C45T:p.I15I;ENSG00000134769:ENST00000598774:exon9:c.C999T:p.I333I;ENSG00000134769:ENST00000315456:exon10:c.C999T:p.I333I;ENSG00000134769:ENST00000598142:exon9:c.C999T:p.I333I;ENSG00000134769:ENST00000601125:exon2:c.C45T:p.I15I;	0.122628479050604	0.45
18	32400878	G	A	18	34820914	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.G1000A:p.V334I;DTNA:NM_001392:exon10:c.G1000A:p.V334I;DTNA:NM_032978:exon9:c.G1000A:p.V334M;DTNA:NM_001390:exon8:c.G1000A:p.V334I;DTNA:NM_001198938:exon10:c.G1000A:p.V334M;DTNA:NM_001198943:exon2:c.G250A:p.V84M;DTNA:NM_001198942:exon2:c.G46A:p.V16M;DTNA:NM_001198944:exon2:c.G46A:p.V16M;DTNA:NM_001391:exon8:c.G1000A:p.V334I;DTNA:NM_032981:exon2:c.G46A:p.V16M;DTNA:NM_001128175:exon10:c.G1000A:p.V334M;DTNA:NM_001198940:exon10:c.G1000A:p.V334M;DTNA:NM_001198939:exon10:c.G1000A:p.V334M;DTNA:NM_001198941:exon9:c.G1000A:p.V334M;DTNA:NM_032980:exon2:c.G46A:p.V16M;DTNA:NM_032975:exon10:c.G1000A:p.V334I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.G1000A:p.V334M;ENSG00000134769:ENST00000399097:exon10:c.G46A:p.V16M;ENSG00000134769:ENST00000598334:exon10:c.G1000A:p.V334M;ENSG00000134769:ENST00000595022:exon10:c.G1000A:p.V334M;ENSG00000134769:ENST00000444659:exon8:c.G1000A:p.V334I;ENSG00000134769:ENST00000269191:exon8:c.G1000A:p.V334I;ENSG00000134769:ENST00000283365:exon10:c.G1000A:p.V334I;ENSG00000134769:ENST00000399113:exon8:c.G1000A:p.V334I;ENSG00000134769:ENST00000599844:exon2:c.G46A:p.V16M;ENSG00000134769:ENST00000556414:exon2:c.G46A:p.V16M;ENSG00000134769:ENST00000269190:exon10:c.G1000A:p.V334M;ENSG00000134769:ENST00000399121:exon10:c.G1000A:p.V334M;ENSG00000134769:ENST00000269192:exon2:c.G46A:p.V16M;ENSG00000134769:ENST00000597599:exon9:c.G1000A:p.V334M;ENSG00000134769:ENST00000554864:exon10:c.G1000A:p.V334M;ENSG00000134769:ENST00000590727:exon2:c.G250A:p.V84M;ENSG00000134769:ENST00000597674:exon2:c.G46A:p.V16M;ENSG00000134769:ENST00000591182:exon2:c.G46A:p.V16M;ENSG00000134769:ENST00000598774:exon9:c.G1000A:p.V334I;ENSG00000134769:ENST00000315456:exon10:c.G1000A:p.V334I;ENSG00000134769:ENST00000598142:exon9:c.G1000A:p.V334I;ENSG00000134769:ENST00000601125:exon2:c.G46A:p.V16M;	0.973753222885329	0.642
18	32400878	G	C	18	34820914	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.G1000C:p.V334L;DTNA:NM_001392:exon10:c.G1000C:p.V334L;DTNA:NM_032978:exon9:c.G1000C:p.V334L;DTNA:NM_001390:exon8:c.G1000C:p.V334L;DTNA:NM_001198938:exon10:c.G1000C:p.V334L;DTNA:NM_001198943:exon2:c.G250C:p.V84L;DTNA:NM_001198942:exon2:c.G46C:p.V16L;DTNA:NM_001198944:exon2:c.G46C:p.V16L;DTNA:NM_001391:exon8:c.G1000C:p.V334L;DTNA:NM_032981:exon2:c.G46C:p.V16L;DTNA:NM_001128175:exon10:c.G1000C:p.V334L;DTNA:NM_001198940:exon10:c.G1000C:p.V334L;DTNA:NM_001198939:exon10:c.G1000C:p.V334L;DTNA:NM_001198941:exon9:c.G1000C:p.V334L;DTNA:NM_032980:exon2:c.G46C:p.V16L;DTNA:NM_032975:exon10:c.G1000C:p.V334L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.G1000C:p.V334L;ENSG00000134769:ENST00000399097:exon10:c.G46C:p.V16L;ENSG00000134769:ENST00000598334:exon10:c.G1000C:p.V334L;ENSG00000134769:ENST00000595022:exon10:c.G1000C:p.V334L;ENSG00000134769:ENST00000444659:exon8:c.G1000C:p.V334L;ENSG00000134769:ENST00000269191:exon8:c.G1000C:p.V334L;ENSG00000134769:ENST00000283365:exon10:c.G1000C:p.V334L;ENSG00000134769:ENST00000399113:exon8:c.G1000C:p.V334L;ENSG00000134769:ENST00000599844:exon2:c.G46C:p.V16L;ENSG00000134769:ENST00000556414:exon2:c.G46C:p.V16L;ENSG00000134769:ENST00000269190:exon10:c.G1000C:p.V334L;ENSG00000134769:ENST00000399121:exon10:c.G1000C:p.V334L;ENSG00000134769:ENST00000269192:exon2:c.G46C:p.V16L;ENSG00000134769:ENST00000597599:exon9:c.G1000C:p.V334L;ENSG00000134769:ENST00000554864:exon10:c.G1000C:p.V334L;ENSG00000134769:ENST00000590727:exon2:c.G250C:p.V84L;ENSG00000134769:ENST00000597674:exon2:c.G46C:p.V16L;ENSG00000134769:ENST00000591182:exon2:c.G46C:p.V16L;ENSG00000134769:ENST00000598774:exon9:c.G1000C:p.V334L;ENSG00000134769:ENST00000315456:exon10:c.G1000C:p.V334L;ENSG00000134769:ENST00000598142:exon9:c.G1000C:p.V334L;ENSG00000134769:ENST00000601125:exon2:c.G46C:p.V16L;	0.994189339164697	0.878
18	32400878	G	T	18	34820914	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.G1000T:p.V334F;DTNA:NM_001392:exon10:c.G1000T:p.V334F;DTNA:NM_032978:exon9:c.G1000T:p.V334L;DTNA:NM_001390:exon8:c.G1000T:p.V334F;DTNA:NM_001198938:exon10:c.G1000T:p.V334L;DTNA:NM_001198943:exon2:c.G250T:p.V84L;DTNA:NM_001198942:exon2:c.G46T:p.V16L;DTNA:NM_001198944:exon2:c.G46T:p.V16L;DTNA:NM_001391:exon8:c.G1000T:p.V334F;DTNA:NM_032981:exon2:c.G46T:p.V16L;DTNA:NM_001128175:exon10:c.G1000T:p.V334L;DTNA:NM_001198940:exon10:c.G1000T:p.V334L;DTNA:NM_001198939:exon10:c.G1000T:p.V334L;DTNA:NM_001198941:exon9:c.G1000T:p.V334L;DTNA:NM_032980:exon2:c.G46T:p.V16L;DTNA:NM_032975:exon10:c.G1000T:p.V334F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.G1000T:p.V334L;ENSG00000134769:ENST00000399097:exon10:c.G46T:p.V16L;ENSG00000134769:ENST00000598334:exon10:c.G1000T:p.V334L;ENSG00000134769:ENST00000595022:exon10:c.G1000T:p.V334L;ENSG00000134769:ENST00000444659:exon8:c.G1000T:p.V334F;ENSG00000134769:ENST00000269191:exon8:c.G1000T:p.V334F;ENSG00000134769:ENST00000283365:exon10:c.G1000T:p.V334F;ENSG00000134769:ENST00000399113:exon8:c.G1000T:p.V334F;ENSG00000134769:ENST00000599844:exon2:c.G46T:p.V16L;ENSG00000134769:ENST00000556414:exon2:c.G46T:p.V16L;ENSG00000134769:ENST00000269190:exon10:c.G1000T:p.V334L;ENSG00000134769:ENST00000399121:exon10:c.G1000T:p.V334L;ENSG00000134769:ENST00000269192:exon2:c.G46T:p.V16L;ENSG00000134769:ENST00000597599:exon9:c.G1000T:p.V334L;ENSG00000134769:ENST00000554864:exon10:c.G1000T:p.V334L;ENSG00000134769:ENST00000590727:exon2:c.G250T:p.V84L;ENSG00000134769:ENST00000597674:exon2:c.G46T:p.V16L;ENSG00000134769:ENST00000591182:exon2:c.G46T:p.V16L;ENSG00000134769:ENST00000598774:exon9:c.G1000T:p.V334F;ENSG00000134769:ENST00000315456:exon10:c.G1000T:p.V334F;ENSG00000134769:ENST00000598142:exon9:c.G1000T:p.V334F;ENSG00000134769:ENST00000601125:exon2:c.G46T:p.V16L;	0.995879653265882	0.898
18	32400879	T	A	18	34820915	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.T1001A:p.V334D;DTNA:NM_001392:exon10:c.T1001A:p.V334D;DTNA:NM_032978:exon9:c.T1001A:p.V334E;DTNA:NM_001390:exon8:c.T1001A:p.V334D;DTNA:NM_001198938:exon10:c.T1001A:p.V334E;DTNA:NM_001198943:exon2:c.T251A:p.V84E;DTNA:NM_001198942:exon2:c.T47A:p.V16E;DTNA:NM_001198944:exon2:c.T47A:p.V16E;DTNA:NM_001391:exon8:c.T1001A:p.V334D;DTNA:NM_032981:exon2:c.T47A:p.V16E;DTNA:NM_001128175:exon10:c.T1001A:p.V334E;DTNA:NM_001198940:exon10:c.T1001A:p.V334E;DTNA:NM_001198939:exon10:c.T1001A:p.V334E;DTNA:NM_001198941:exon9:c.T1001A:p.V334E;DTNA:NM_032980:exon2:c.T47A:p.V16E;DTNA:NM_032975:exon10:c.T1001A:p.V334D;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.T1001A:p.V334E;ENSG00000134769:ENST00000399097:exon10:c.T47A:p.V16E;ENSG00000134769:ENST00000598334:exon10:c.T1001A:p.V334E;ENSG00000134769:ENST00000595022:exon10:c.T1001A:p.V334E;ENSG00000134769:ENST00000444659:exon8:c.T1001A:p.V334D;ENSG00000134769:ENST00000269191:exon8:c.T1001A:p.V334D;ENSG00000134769:ENST00000283365:exon10:c.T1001A:p.V334D;ENSG00000134769:ENST00000399113:exon8:c.T1001A:p.V334D;ENSG00000134769:ENST00000599844:exon2:c.T47A:p.V16E;ENSG00000134769:ENST00000556414:exon2:c.T47A:p.V16E;ENSG00000134769:ENST00000269190:exon10:c.T1001A:p.V334E;ENSG00000134769:ENST00000399121:exon10:c.T1001A:p.V334E;ENSG00000134769:ENST00000269192:exon2:c.T47A:p.V16E;ENSG00000134769:ENST00000597599:exon9:c.T1001A:p.V334E;ENSG00000134769:ENST00000554864:exon10:c.T1001A:p.V334E;ENSG00000134769:ENST00000590727:exon2:c.T251A:p.V84E;ENSG00000134769:ENST00000597674:exon2:c.T47A:p.V16E;ENSG00000134769:ENST00000591182:exon2:c.T47A:p.V16E;ENSG00000134769:ENST00000598774:exon9:c.T1001A:p.V334D;ENSG00000134769:ENST00000315456:exon10:c.T1001A:p.V334D;ENSG00000134769:ENST00000598142:exon9:c.T1001A:p.V334D;ENSG00000134769:ENST00000601125:exon2:c.T47A:p.V16E;	0.892289920483955	0.722
18	32400879	T	C	18	34820915	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.T1001C:p.V334A;DTNA:NM_001392:exon10:c.T1001C:p.V334A;DTNA:NM_032978:exon9:c.T1001C:p.V334A;DTNA:NM_001390:exon8:c.T1001C:p.V334A;DTNA:NM_001198938:exon10:c.T1001C:p.V334A;DTNA:NM_001198943:exon2:c.T251C:p.V84A;DTNA:NM_001198942:exon2:c.T47C:p.V16A;DTNA:NM_001198944:exon2:c.T47C:p.V16A;DTNA:NM_001391:exon8:c.T1001C:p.V334A;DTNA:NM_032981:exon2:c.T47C:p.V16A;DTNA:NM_001128175:exon10:c.T1001C:p.V334A;DTNA:NM_001198940:exon10:c.T1001C:p.V334A;DTNA:NM_001198939:exon10:c.T1001C:p.V334A;DTNA:NM_001198941:exon9:c.T1001C:p.V334A;DTNA:NM_032980:exon2:c.T47C:p.V16A;DTNA:NM_032975:exon10:c.T1001C:p.V334A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.T1001C:p.V334A;ENSG00000134769:ENST00000399097:exon10:c.T47C:p.V16A;ENSG00000134769:ENST00000598334:exon10:c.T1001C:p.V334A;ENSG00000134769:ENST00000595022:exon10:c.T1001C:p.V334A;ENSG00000134769:ENST00000444659:exon8:c.T1001C:p.V334A;ENSG00000134769:ENST00000269191:exon8:c.T1001C:p.V334A;ENSG00000134769:ENST00000283365:exon10:c.T1001C:p.V334A;ENSG00000134769:ENST00000399113:exon8:c.T1001C:p.V334A;ENSG00000134769:ENST00000599844:exon2:c.T47C:p.V16A;ENSG00000134769:ENST00000556414:exon2:c.T47C:p.V16A;ENSG00000134769:ENST00000269190:exon10:c.T1001C:p.V334A;ENSG00000134769:ENST00000399121:exon10:c.T1001C:p.V334A;ENSG00000134769:ENST00000269192:exon2:c.T47C:p.V16A;ENSG00000134769:ENST00000597599:exon9:c.T1001C:p.V334A;ENSG00000134769:ENST00000554864:exon10:c.T1001C:p.V334A;ENSG00000134769:ENST00000590727:exon2:c.T251C:p.V84A;ENSG00000134769:ENST00000597674:exon2:c.T47C:p.V16A;ENSG00000134769:ENST00000591182:exon2:c.T47C:p.V16A;ENSG00000134769:ENST00000598774:exon9:c.T1001C:p.V334A;ENSG00000134769:ENST00000315456:exon10:c.T1001C:p.V334A;ENSG00000134769:ENST00000598142:exon9:c.T1001C:p.V334A;ENSG00000134769:ENST00000601125:exon2:c.T47C:p.V16A;	0.982146581685193	0.776
18	32400879	T	G	18	34820915	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon10:c.T1001G:p.V334G;DTNA:NM_001392:exon10:c.T1001G:p.V334G;DTNA:NM_032978:exon9:c.T1001G:p.V334G;DTNA:NM_001390:exon8:c.T1001G:p.V334G;DTNA:NM_001198938:exon10:c.T1001G:p.V334G;DTNA:NM_001198943:exon2:c.T251G:p.V84G;DTNA:NM_001198942:exon2:c.T47G:p.V16G;DTNA:NM_001198944:exon2:c.T47G:p.V16G;DTNA:NM_001391:exon8:c.T1001G:p.V334G;DTNA:NM_032981:exon2:c.T47G:p.V16G;DTNA:NM_001128175:exon10:c.T1001G:p.V334G;DTNA:NM_001198940:exon10:c.T1001G:p.V334G;DTNA:NM_001198939:exon10:c.T1001G:p.V334G;DTNA:NM_001198941:exon9:c.T1001G:p.V334G;DTNA:NM_032980:exon2:c.T47G:p.V16G;DTNA:NM_032975:exon10:c.T1001G:p.V334G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon9:c.T1001G:p.V334G;ENSG00000134769:ENST00000399097:exon10:c.T47G:p.V16G;ENSG00000134769:ENST00000598334:exon10:c.T1001G:p.V334G;ENSG00000134769:ENST00000595022:exon10:c.T1001G:p.V334G;ENSG00000134769:ENST00000444659:exon8:c.T1001G:p.V334G;ENSG00000134769:ENST00000269191:exon8:c.T1001G:p.V334G;ENSG00000134769:ENST00000283365:exon10:c.T1001G:p.V334G;ENSG00000134769:ENST00000399113:exon8:c.T1001G:p.V334G;ENSG00000134769:ENST00000599844:exon2:c.T47G:p.V16G;ENSG00000134769:ENST00000556414:exon2:c.T47G:p.V16G;ENSG00000134769:ENST00000269190:exon10:c.T1001G:p.V334G;ENSG00000134769:ENST00000399121:exon10:c.T1001G:p.V334G;ENSG00000134769:ENST00000269192:exon2:c.T47G:p.V16G;ENSG00000134769:ENST00000597599:exon9:c.T1001G:p.V334G;ENSG00000134769:ENST00000554864:exon10:c.T1001G:p.V334G;ENSG00000134769:ENST00000590727:exon2:c.T251G:p.V84G;ENSG00000134769:ENST00000597674:exon2:c.T47G:p.V16G;ENSG00000134769:ENST00000591182:exon2:c.T47G:p.V16G;ENSG00000134769:ENST00000598774:exon9:c.T1001G:p.V334G;ENSG00000134769:ENST00000315456:exon10:c.T1001G:p.V334G;ENSG00000134769:ENST00000598142:exon9:c.T1001G:p.V334G;ENSG00000134769:ENST00000601125:exon2:c.T47G:p.V16G;	0.449661122588634	0.274
18	32400880	G	A	18	34820916	y	y	splicing	DTNA(NM_001392:exon10:c.1001+1G>A;NM_032975:exon10:c.1001+1G>A;NM_032979:exon10:c.1001+1G>A;NM_001198940:exon10:c.1001+1G>A;NM_001198939:exon10:c.1001+1G>A;NM_001198938:exon10:c.1001+1G>A;NM_001128175:exon10:c.1001+1G>A;NM_001198941:exon9:c.1001+1G>A;NM_032978:exon9:c.1001+1G>A;NM_001391:exon8:c.1001+1G>A;NM_001390:exon8:c.1001+1G>A;NM_001198943:exon2:c.251+1G>A;NM_001198944:exon2:c.47+1G>A;NM_001198942:exon2:c.47+1G>A;NM_032981:exon2:c.47+1G>A;NM_032980:exon2:c.47+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.1001+1G>A;ENST00000315456:exon10:c.1001+1G>A;ENST00000598334:exon10:c.1001+1G>A;ENST00000399121:exon10:c.1001+1G>A;ENST00000554864:exon10:c.1001+1G>A;ENST00000399097:exon10:c.47+1G>A;ENST00000269190:exon10:c.1001+1G>A;ENST00000595022:exon10:c.1001+1G>A;ENST00000598142:exon9:c.1001+1G>A;ENST00000598774:exon9:c.1001+1G>A;ENST00000348997:exon9:c.1001+1G>A;ENST00000597599:exon9:c.1001+1G>A;ENST00000269191:exon8:c.1001+1G>A;ENST00000444659:exon8:c.1001+1G>A;ENST00000399113:exon8:c.1001+1G>A;ENST00000601125:exon2:c.47+1G>A;ENST00000590727:exon2:c.251+1G>A;ENST00000269192:exon2:c.47+1G>A;ENST00000591182:exon2:c.47+1G>A;ENST00000556414:exon2:c.47+1G>A;ENST00000597674:exon2:c.47+1G>A;ENST00000599844:exon2:c.47+1G>A)	.	.	0.999989072007339	0.926
18	32400880	G	C	18	34820916	y	y	splicing	DTNA(NM_001392:exon10:c.1001+1G>C;NM_032975:exon10:c.1001+1G>C;NM_032979:exon10:c.1001+1G>C;NM_001198940:exon10:c.1001+1G>C;NM_001198939:exon10:c.1001+1G>C;NM_001198938:exon10:c.1001+1G>C;NM_001128175:exon10:c.1001+1G>C;NM_001198941:exon9:c.1001+1G>C;NM_032978:exon9:c.1001+1G>C;NM_001391:exon8:c.1001+1G>C;NM_001390:exon8:c.1001+1G>C;NM_001198943:exon2:c.251+1G>C;NM_001198944:exon2:c.47+1G>C;NM_001198942:exon2:c.47+1G>C;NM_032981:exon2:c.47+1G>C;NM_032980:exon2:c.47+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.1001+1G>C;ENST00000315456:exon10:c.1001+1G>C;ENST00000598334:exon10:c.1001+1G>C;ENST00000399121:exon10:c.1001+1G>C;ENST00000554864:exon10:c.1001+1G>C;ENST00000399097:exon10:c.47+1G>C;ENST00000269190:exon10:c.1001+1G>C;ENST00000595022:exon10:c.1001+1G>C;ENST00000598142:exon9:c.1001+1G>C;ENST00000598774:exon9:c.1001+1G>C;ENST00000348997:exon9:c.1001+1G>C;ENST00000597599:exon9:c.1001+1G>C;ENST00000269191:exon8:c.1001+1G>C;ENST00000444659:exon8:c.1001+1G>C;ENST00000399113:exon8:c.1001+1G>C;ENST00000601125:exon2:c.47+1G>C;ENST00000590727:exon2:c.251+1G>C;ENST00000269192:exon2:c.47+1G>C;ENST00000591182:exon2:c.47+1G>C;ENST00000556414:exon2:c.47+1G>C;ENST00000597674:exon2:c.47+1G>C;ENST00000599844:exon2:c.47+1G>C)	.	.	0.999989072007339	0.926
18	32400880	G	T	18	34820916	y	y	splicing	DTNA(NM_001392:exon10:c.1001+1G>T;NM_032975:exon10:c.1001+1G>T;NM_032979:exon10:c.1001+1G>T;NM_001198940:exon10:c.1001+1G>T;NM_001198939:exon10:c.1001+1G>T;NM_001198938:exon10:c.1001+1G>T;NM_001128175:exon10:c.1001+1G>T;NM_001198941:exon9:c.1001+1G>T;NM_032978:exon9:c.1001+1G>T;NM_001391:exon8:c.1001+1G>T;NM_001390:exon8:c.1001+1G>T;NM_001198943:exon2:c.251+1G>T;NM_001198944:exon2:c.47+1G>T;NM_001198942:exon2:c.47+1G>T;NM_032981:exon2:c.47+1G>T;NM_032980:exon2:c.47+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.1001+1G>T;ENST00000315456:exon10:c.1001+1G>T;ENST00000598334:exon10:c.1001+1G>T;ENST00000399121:exon10:c.1001+1G>T;ENST00000554864:exon10:c.1001+1G>T;ENST00000399097:exon10:c.47+1G>T;ENST00000269190:exon10:c.1001+1G>T;ENST00000595022:exon10:c.1001+1G>T;ENST00000598142:exon9:c.1001+1G>T;ENST00000598774:exon9:c.1001+1G>T;ENST00000348997:exon9:c.1001+1G>T;ENST00000597599:exon9:c.1001+1G>T;ENST00000269191:exon8:c.1001+1G>T;ENST00000444659:exon8:c.1001+1G>T;ENST00000399113:exon8:c.1001+1G>T;ENST00000601125:exon2:c.47+1G>T;ENST00000590727:exon2:c.251+1G>T;ENST00000269192:exon2:c.47+1G>T;ENST00000591182:exon2:c.47+1G>T;ENST00000556414:exon2:c.47+1G>T;ENST00000597674:exon2:c.47+1G>T;ENST00000599844:exon2:c.47+1G>T)	.	.	0.999989072007339	0.926
18	32400881	T	A	18	34820917	y	y	splicing	DTNA(NM_001392:exon10:c.1001+2T>A;NM_032975:exon10:c.1001+2T>A;NM_032979:exon10:c.1001+2T>A;NM_001198940:exon10:c.1001+2T>A;NM_001198939:exon10:c.1001+2T>A;NM_001198938:exon10:c.1001+2T>A;NM_001128175:exon10:c.1001+2T>A;NM_001198941:exon9:c.1001+2T>A;NM_032978:exon9:c.1001+2T>A;NM_001391:exon8:c.1001+2T>A;NM_001390:exon8:c.1001+2T>A;NM_001198943:exon2:c.251+2T>A;NM_001198944:exon2:c.47+2T>A;NM_001198942:exon2:c.47+2T>A;NM_032981:exon2:c.47+2T>A;NM_032980:exon2:c.47+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.1001+2T>A;ENST00000315456:exon10:c.1001+2T>A;ENST00000598334:exon10:c.1001+2T>A;ENST00000399121:exon10:c.1001+2T>A;ENST00000554864:exon10:c.1001+2T>A;ENST00000399097:exon10:c.47+2T>A;ENST00000269190:exon10:c.1001+2T>A;ENST00000595022:exon10:c.1001+2T>A;ENST00000598142:exon9:c.1001+2T>A;ENST00000598774:exon9:c.1001+2T>A;ENST00000348997:exon9:c.1001+2T>A;ENST00000597599:exon9:c.1001+2T>A;ENST00000269191:exon8:c.1001+2T>A;ENST00000444659:exon8:c.1001+2T>A;ENST00000399113:exon8:c.1001+2T>A;ENST00000601125:exon2:c.47+2T>A;ENST00000590727:exon2:c.251+2T>A;ENST00000269192:exon2:c.47+2T>A;ENST00000591182:exon2:c.47+2T>A;ENST00000556414:exon2:c.47+2T>A;ENST00000597674:exon2:c.47+2T>A;ENST00000599844:exon2:c.47+2T>A)	.	.	0.999981808176352	0.914
18	32400881	T	C	18	34820917	y	y	splicing	DTNA(NM_001392:exon10:c.1001+2T>C;NM_032975:exon10:c.1001+2T>C;NM_032979:exon10:c.1001+2T>C;NM_001198940:exon10:c.1001+2T>C;NM_001198939:exon10:c.1001+2T>C;NM_001198938:exon10:c.1001+2T>C;NM_001128175:exon10:c.1001+2T>C;NM_001198941:exon9:c.1001+2T>C;NM_032978:exon9:c.1001+2T>C;NM_001391:exon8:c.1001+2T>C;NM_001390:exon8:c.1001+2T>C;NM_001198943:exon2:c.251+2T>C;NM_001198944:exon2:c.47+2T>C;NM_001198942:exon2:c.47+2T>C;NM_032981:exon2:c.47+2T>C;NM_032980:exon2:c.47+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.1001+2T>C;ENST00000315456:exon10:c.1001+2T>C;ENST00000598334:exon10:c.1001+2T>C;ENST00000399121:exon10:c.1001+2T>C;ENST00000554864:exon10:c.1001+2T>C;ENST00000399097:exon10:c.47+2T>C;ENST00000269190:exon10:c.1001+2T>C;ENST00000595022:exon10:c.1001+2T>C;ENST00000598142:exon9:c.1001+2T>C;ENST00000598774:exon9:c.1001+2T>C;ENST00000348997:exon9:c.1001+2T>C;ENST00000597599:exon9:c.1001+2T>C;ENST00000269191:exon8:c.1001+2T>C;ENST00000444659:exon8:c.1001+2T>C;ENST00000399113:exon8:c.1001+2T>C;ENST00000601125:exon2:c.47+2T>C;ENST00000590727:exon2:c.251+2T>C;ENST00000269192:exon2:c.47+2T>C;ENST00000591182:exon2:c.47+2T>C;ENST00000556414:exon2:c.47+2T>C;ENST00000597674:exon2:c.47+2T>C;ENST00000599844:exon2:c.47+2T>C)	.	.	0.999965547625421	0.876
18	32400881	T	G	18	34820917	y	y	splicing	DTNA(NM_001392:exon10:c.1001+2T>G;NM_032975:exon10:c.1001+2T>G;NM_032979:exon10:c.1001+2T>G;NM_001198940:exon10:c.1001+2T>G;NM_001198939:exon10:c.1001+2T>G;NM_001198938:exon10:c.1001+2T>G;NM_001128175:exon10:c.1001+2T>G;NM_001198941:exon9:c.1001+2T>G;NM_032978:exon9:c.1001+2T>G;NM_001391:exon8:c.1001+2T>G;NM_001390:exon8:c.1001+2T>G;NM_001198943:exon2:c.251+2T>G;NM_001198944:exon2:c.47+2T>G;NM_001198942:exon2:c.47+2T>G;NM_032981:exon2:c.47+2T>G;NM_032980:exon2:c.47+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon10:c.1001+2T>G;ENST00000315456:exon10:c.1001+2T>G;ENST00000598334:exon10:c.1001+2T>G;ENST00000399121:exon10:c.1001+2T>G;ENST00000554864:exon10:c.1001+2T>G;ENST00000399097:exon10:c.47+2T>G;ENST00000269190:exon10:c.1001+2T>G;ENST00000595022:exon10:c.1001+2T>G;ENST00000598142:exon9:c.1001+2T>G;ENST00000598774:exon9:c.1001+2T>G;ENST00000348997:exon9:c.1001+2T>G;ENST00000597599:exon9:c.1001+2T>G;ENST00000269191:exon8:c.1001+2T>G;ENST00000444659:exon8:c.1001+2T>G;ENST00000399113:exon8:c.1001+2T>G;ENST00000601125:exon2:c.47+2T>G;ENST00000590727:exon2:c.251+2T>G;ENST00000269192:exon2:c.47+2T>G;ENST00000591182:exon2:c.47+2T>G;ENST00000556414:exon2:c.47+2T>G;ENST00000597674:exon2:c.47+2T>G;ENST00000599844:exon2:c.47+2T>G)	.	.	0.999981808176352	0.912
18	32400882	G	A	18	34820918	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.1102338094747E-4	0.0
18	32400882	G	C	18	34820918	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998672684805681	0.784
18	32400882	G	T	18	34820918	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998638037969793	0.75
18	32400883	A	C	18	34820919	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99964757959754	0.948
18	32400883	A	G	18	34820919	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999766340724118	0.982
18	32400883	A	T	18	34820919	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999918247313483	0.946
18	32400884	G	A	18	34820920	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999990698959573	0.988
18	32400884	G	C	18	34820920	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999990698959573	0.966
18	32400884	G	T	18	34820920	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999990698959573	0.966
18	32400885	T	A	18	34820921	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999852057096288	0.848
18	32400885	T	C	18	34820921	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999423871168273	0.976
18	32400885	T	G	18	34820921	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999737436183156	0.894
18	32400886	A	C	18	34820922	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.65552530302362E-4	0.0
18	32400886	A	G	18	34820922	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.37463193734175E-4	0.002
18	32400886	A	T	18	34820922	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0012286603363371	0.076
18	32400887	T	A	18	34820923	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00120711687177017	0.092
18	32400887	T	C	18	34820923	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.43210880625186E-4	0.0
18	32400887	T	G	18	34820923	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00131474021555239	0.084
18	32401052	T	A	18	34821088	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.9469183429777E-5	0.0
18	32401052	T	C	18	34821088	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.9469183429777E-5	0.0
18	32401052	T	G	18	34821088	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.9469183429777E-5	0.0
18	32401053	A	C	18	34821089	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.04096031973704E-5	0.002
18	32401053	A	G	18	34821089	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.04096031973704E-5	0.002
18	32401053	A	T	18	34821089	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.04096031973704E-5	0.002
18	32401054	C	A	18	34821090	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.51383879749987E-5	0.0
18	32401054	C	G	18	34821090	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.51383879749987E-5	0.0
18	32401054	C	T	18	34821090	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.51383879749987E-5	0.0
18	32401055	T	A	18	34821091	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.53477837838108E-4	0.004
18	32401055	T	C	18	34821091	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.29052254582776E-4	0.002
18	32401055	T	G	18	34821091	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.29052254582776E-4	0.002
18	32401056	T	A	18	34821092	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.46393969796562E-4	0.002
18	32401056	T	C	18	34821092	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.41384292177285E-4	0.002
18	32401056	T	G	18	34821092	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.41384292177285E-4	0.002
18	32401057	C	A	18	34821093	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.01163773767764E-5	0.0
18	32401057	C	G	18	34821093	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.01163773767764E-5	0.0
18	32401057	C	T	18	34821093	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.7749166663215E-5	0.002
18	32401058	C	A	18	34821094	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.41256482875619E-5	0.004
18	32401058	C	G	18	34821094	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.41256482875619E-5	0.0
18	32401058	C	T	18	34821094	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.74891647094722E-5	0.004
18	32401059	A	C	18	34821095	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.31929338280547E-5	0.002
18	32401059	A	G	18	34821095	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.31929338280547E-5	0.002
18	32401059	A	T	18	34821095	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.89925739660516E-5	0.008
18	32401060	C	A	18	34821096	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.1548255067557E-5	0.002
18	32401060	C	G	18	34821096	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.39502748842236E-5	0.002
18	32401060	C	T	18	34821096	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.1548255067557E-5	0.002
18	32401061	C	A	18	34821097	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.72760553213487E-5	0.002
18	32401061	C	G	18	34821097	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.09828708177445E-5	0.0
18	32401061	C	T	18	34821097	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.72760553213487E-5	0.0
18	32401062	A	C	18	34821098	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1002-2A>C)	.	.	1.96232876013735E-5	0.002
18	32401062	A	G	18	34821098	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1002-2A>G)	.	.	1.96232876013735E-5	0.002
18	32401062	A	T	18	34821098	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1002-2A>T)	.	.	1.96232876013735E-5	0.002
18	32401063	G	A	18	34821099	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1002-1G>A)	.	.	1.19968344336854E-5	0.012
18	32401063	G	C	18	34821099	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1002-1G>C)	.	.	1.64197189902878E-5	0.022
18	32401063	G	T	18	34821099	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1002-1G>T)	.	.	1.64197189902878E-5	0.012
18	32401064	G	A	18	34821100	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.G1002A:p.V334V;	3.80465223468383E-5	0.034
18	32401064	G	C	18	34821100	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.G1002C:p.V334V;	3.80465223468383E-5	0.034
18	32401064	G	T	18	34821100	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.G1002T:p.V334V;	3.80465223468383E-5	0.034
18	32401065	C	A	18	34821101	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.C1003A:p.L335M;	8.30945796578933E-5	0.0
18	32401065	C	G	18	34821101	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.C1003G:p.L335V;	1.00675832680685E-4	0.002
18	32401065	C	T	18	34821101	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.C1003T:p.L335L;	2.1548255067557E-5	0.0
18	32401070	C	A	18	34821106	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.C1008A:p.D336E;	3.92214092678979E-5	0.044
18	32401070	C	G	18	34821106	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.C1008G:p.D336E;	3.92214092678979E-5	0.044
18	32401070	C	T	18	34821106	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.C1008T:p.D336D;	4.27337599036071E-5	0.006
18	32401071	A	C	18	34821107	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.A1009C:p.N337H;	5.14469246767614E-5	0.0
18	32401071	A	G	18	34821107	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.A1009G:p.N337D;	2.0086940530158E-5	0.002
18	32401071	A	T	18	34821107	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.A1009T:p.N337Y;	2.0086940530158E-5	0.0
18	32401072	A	C	18	34821108	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.A1010C:p.N337T;	1.66943293676814E-5	0.036
18	32401072	A	G	18	34821108	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.A1010G:p.N337S;	3.05219538602622E-5	0.036
18	32401072	A	T	18	34821108	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon11:c.A1010T:p.N337I;	4.57728055797438E-5	0.022
18	32401073	G	A	18	34821109	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1010+1G>A)	.	.	4.52932449848953E-5	0.002
18	32401073	G	C	18	34821109	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1010+1G>C)	.	.	4.52932449848953E-5	0.006
18	32401073	G	T	18	34821109	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1010+1G>T)	.	.	4.52932449848953E-5	0.004
18	32401074	T	A	18	34821110	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1010+2T>A)	.	.	8.06155505055908E-5	0.106
18	32401074	T	C	18	34821110	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1010+2T>C)	.	.	8.06155505055908E-5	0.11
18	32401074	T	G	18	34821110	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon11:c.1010+2T>G)	.	.	8.06155505055908E-5	0.11
18	32401075	A	C	18	34821111	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.78864525412067E-5	0.0
18	32401075	A	G	18	34821111	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.78864525412067E-5	0.0
18	32401075	A	T	18	34821111	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.08802802279601E-5	0.0
18	32401076	A	C	18	34821112	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.55427294637899E-5	0.016
18	32401076	A	G	18	34821112	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.55427294637899E-5	0.016
18	32401076	A	T	18	34821112	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.71108049909453E-5	0.016
18	32401077	A	C	18	34821113	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.36340088948343E-5	0.0
18	32401077	A	G	18	34821113	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.36340088948343E-5	0.0
18	32401077	A	T	18	34821113	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.36340088948343E-5	0.004
18	32401078	G	A	18	34821114	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.89925739660516E-5	0.004
18	32401078	G	C	18	34821114	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.31929338280547E-5	0.0
18	32401078	G	T	18	34821114	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.31929338280547E-5	0.002
18	32401079	T	A	18	34821115	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.15941453541388E-5	0.002
18	32401079	T	C	18	34821115	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.15941453541388E-5	0.002
18	32401079	T	G	18	34821115	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.15941453541388E-5	0.002
18	32401080	A	C	18	34821116	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.77993525610891E-5	0.012
18	32401080	A	G	18	34821116	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.77993525610891E-5	0.012
18	32401080	A	T	18	34821116	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.77993525610891E-5	0.0
18	32401425	T	A	18	34821461	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.25437117408849E-5	0.0
18	32401425	T	C	18	34821461	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.25437117408849E-5	0.0
18	32401425	T	G	18	34821461	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.25437117408849E-5	0.0
18	32401426	T	A	18	34821462	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.24975915077222E-5	0.0
18	32401426	T	C	18	34821462	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.1020973109669E-5	0.0
18	32401426	T	G	18	34821462	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.1020973109669E-5	0.0
18	32401427	T	A	18	34821463	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.49551173556722E-4	0.02
18	32401427	T	C	18	34821463	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.38118228050303E-4	0.02
18	32401427	T	G	18	34821463	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.38118228050303E-4	0.02
18	32401428	T	A	18	34821464	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.38113264713725E-5	0.006
18	32401428	T	C	18	34821464	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.53292460361593E-5	0.066
18	32401428	T	G	18	34821464	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.38113264713725E-5	0.018
18	32401429	C	A	18	34821465	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.04243866858565E-5	0.0
18	32401429	C	G	18	34821465	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.04243866858565E-5	0.0
18	32401429	C	T	18	34821465	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.04243866858565E-5	0.0
18	32401430	T	A	18	34821466	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.91761563972371E-5	0.0
18	32401430	T	C	18	34821466	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.35623326617809E-5	0.0
18	32401430	T	G	18	34821466	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.35623326617809E-5	0.0
18	32401431	T	A	18	34821467	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.17825650598919E-5	0.0
18	32401431	T	C	18	34821467	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.17825650598919E-5	0.002
18	32401431	T	G	18	34821467	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.17825650598919E-5	0.002
18	32401432	C	A	18	34821468	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.05670308788612E-5	0.016
18	32401432	C	G	18	34821468	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.05670308788612E-5	0.006
18	32401432	C	T	18	34821468	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.52932449848953E-5	0.01
18	32401433	A	C	18	34821469	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.0180149904064E-5	0.002
18	32401433	A	G	18	34821469	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.0180149904064E-5	0.0
18	32401433	A	T	18	34821469	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.256915070725E-5	0.0
18	32401434	A	C	18	34821470	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.84729574776877E-5	0.0
18	32401434	A	G	18	34821470	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.84729574776877E-5	0.0
18	32401434	A	T	18	34821470	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.99263190704948E-5	0.0
18	32401435	A	C	18	34821471	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1011-2A>C)	.	.	9.49551173556722E-4	0.024
18	32401435	A	G	18	34821471	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1011-2A>G)	.	.	9.49551173556722E-4	0.024
18	32401435	A	T	18	34821471	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1011-2A>T)	.	.	0.00140830567855165	0.026
18	32401436	G	A	18	34821472	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1011-1G>A)	.	.	4.87698428322107E-5	0.004
18	32401436	G	C	18	34821472	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1011-1G>C)	.	.	4.87698428322107E-5	0.002
18	32401436	G	T	18	34821472	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1011-1G>T)	.	.	4.87698428322107E-5	0.006
18	32401437	T	A	18	34821473	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.T1011A:p.N337K;	3.58043380837836E-5	0.04
18	32401437	T	C	18	34821473	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.T1011C:p.N337N;	1.78411830452304E-4	0.02
18	32401437	T	G	18	34821473	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.T1011G:p.N337K;	6.54594163828291E-5	0.04
18	32401438	A	C	18	34821474	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.A1012C:p.M338L;	1.36195737818257E-5	0.0
18	32401438	A	G	18	34821474	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.A1012G:p.M338V;	1.36195737818257E-5	0.0
18	32401438	A	T	18	34821474	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.A1012T:p.M338L;	1.36195737818257E-5	0.0
18	32401439	T	A	18	34821475	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.T1013A:p.M338K;	5.25211152755068E-5	0.0
18	32401439	T	C	18	34821475	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.T1013C:p.M338T;	1.46958351375406E-5	0.0
18	32401439	T	G	18	34821475	n	y	intronic	DTNA	.	.	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000269190:exon12:c.T1013G:p.M338R;	4.7586829694842E-5	0.0
18	32401440	G	A	18	34821476	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1013+1G>A)	.	.	3.69831625241199E-5	0.0
18	32401440	G	C	18	34821476	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1013+1G>C)	.	.	3.69831625241199E-5	0.0
18	32401440	G	T	18	34821476	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1013+1G>T)	.	.	3.69831625241199E-5	0.0
18	32401441	T	A	18	34821477	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1013+2T>A)	.	.	4.24975915077222E-5	0.0
18	32401441	T	C	18	34821477	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1013+2T>C)	.	.	4.1020973109669E-5	0.0
18	32401441	T	G	18	34821477	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769(ENST00000269190:exon12:c.1013+2T>G)	.	.	4.1020973109669E-5	0.0
18	32401442	G	A	18	34821478	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.65388135286213E-5	0.0
18	32401442	G	C	18	34821478	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.65388135286213E-5	0.0
18	32401442	G	T	18	34821478	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.65388135286213E-5	0.0
18	32401443	T	A	18	34821479	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.21557472225283E-5	0.0
18	32401443	T	C	18	34821479	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.21557472225283E-5	0.0
18	32401443	T	G	18	34821479	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.21557472225283E-5	0.004
18	32401444	G	A	18	34821480	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.58461283867531E-5	0.01
18	32401444	G	C	18	34821480	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.62279994356454E-5	0.012
18	32401444	G	T	18	34821480	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.58461283867531E-5	0.014
18	32401445	A	C	18	34821481	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.06619588578661E-5	0.006
18	32401445	A	G	18	34821481	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.06619588578661E-5	0.006
18	32401445	A	T	18	34821481	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.06619588578661E-5	0.008
18	32401446	G	A	18	34821482	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.71037690926497E-5	0.002
18	32401446	G	C	18	34821482	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.71037690926497E-5	0.002
18	32401446	G	T	18	34821482	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.71037690926497E-5	0.0
18	32401447	T	A	18	34821483	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.80109675654916E-5	0.0
18	32401447	T	C	18	34821483	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.08291490468438E-5	0.022
18	32401447	T	G	18	34821483	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.80109675654916E-5	0.01
18	32402528	A	C	18	34822564	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.46958351375406E-5	0.0
18	32402528	A	G	18	34822564	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.46958351375406E-5	0.0
18	32402528	A	T	18	34822564	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	3.06147959360663E-5	0.004
18	32402529	C	A	18	34822565	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.1548255067557E-5	0.0
18	32402529	C	G	18	34822565	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.1548255067557E-5	0.0
18	32402529	C	T	18	34822565	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	2.32510510707312E-5	0.0
18	32402530	A	C	18	34822566	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.70337218186484E-5	0.0
18	32402530	A	G	18	34822566	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.70337218186484E-5	0.0
18	32402530	A	T	18	34822566	n	y	intronic	DTNA	.	.	UTR5	ENSG00000134769	.	.	1.70337218186484E-5	0.0
18	32402531	G	A	18	34822567	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.68952365742707E-5	0.002
18	32402531	G	C	18	34822567	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.68952365742707E-5	0.006
18	32402531	G	T	18	34822567	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	4.68952365742707E-5	0.002
18	32402532	T	A	18	34822568	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	5.15941453541388E-5	0.004
18	32402532	T	C	18	34822568	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	6.89925739660516E-5	0.018
18	32402532	T	G	18	34822568	n	y	intronic	DTNA	.	.	splicing	ENSG00000134769	.	.	6.89925739660516E-5	0.02
18	32402533	G	A	18	34822569	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.84397551808994E-5	0.006
18	32402533	G	C	18	34822569	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.77382407657072E-5	0.002
18	32402533	G	T	18	34822569	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.84397551808994E-5	0.006
18	32402534	A	C	18	34822570	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.36340088948343E-5	0.006
18	32402534	A	G	18	34822570	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.36340088948343E-5	0.006
18	32402534	A	T	18	34822570	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.36340088948343E-5	0.008
18	32402535	G	A	18	34822571	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.08802802279601E-5	0.004
18	32402535	G	C	18	34822571	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.78864525412067E-5	0.0
18	32402535	G	T	18	34822571	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.08802802279601E-5	0.0
18	32402536	T	A	18	34822572	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.63225693782043E-5	0.006
18	32402536	T	C	18	34822572	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.63225693782043E-5	0.006
18	32402536	T	G	18	34822572	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.63225693782043E-5	0.006
18	32402537	C	A	18	34822573	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.51812775091856E-4	0.018
18	32402537	C	G	18	34822573	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.51812775091856E-4	0.018
18	32402537	C	T	18	34822573	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0012086562724153	0.018
18	32402538	C	A	18	34822574	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.87872098031522E-5	0.0
18	32402538	C	G	18	34822574	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.87872098031522E-5	0.0
18	32402538	C	T	18	34822574	n	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.87872098031522E-5	0.0
18	32405219	C	A	18	34825255	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.994838141857894	.
18	32405219	C	G	18	34825255	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00115879424427568	.
18	32405219	C	T	18	34825255	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.28945849049011E-5	.
18	32405220	G	A	18	34825256	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.973986547437279	.
18	32405220	G	C	18	34825256	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.968079381225586	.
18	32405220	G	T	18	34825256	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.977118417771099	.
18	32405221	C	A	18	34825257	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.966890777597084	.
18	32405221	C	G	18	34825257	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.97074155060408	.
18	32405221	C	T	18	34825257	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.956432711762751	.
18	32405222	T	A	18	34825258	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999054089939373	.
18	32405222	T	C	18	34825258	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00873828214021663	.
18	32405222	T	G	18	34825258	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.809404913095654	.
18	32405223	G	A	18	34825259	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0168412327666549	.
18	32405223	G	C	18	34825259	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0010825112382381	.
18	32405223	G	T	18	34825259	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.5314290217912E-4	.
18	32405224	C	A	18	34825260	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0182303013766604	.
18	32405224	C	G	18	34825260	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0671559585903182	.
18	32405224	C	T	18	34825260	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.20307241299668E-4	.
18	32405225	C	A	18	34825261	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.984553361957952	.
18	32405225	C	G	18	34825261	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.984553361957952	.
18	32405225	C	T	18	34825261	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0175945471004942	.
18	32405226	A	C	18	34825262	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.97516094644779E-4	.
18	32405226	A	G	18	34825262	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.57131946041814E-4	.
18	32405226	A	T	18	34825262	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.80925245379201E-4	.
18	32405227	A	C	18	34825263	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00126250069881121	.
18	32405227	A	G	18	34825263	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.990797556927475	.
18	32405227	A	T	18	34825263	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00354447605399541	.
18	32405228	A	C	18	34825264	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00987613392182093	.
18	32405228	A	G	18	34825264	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.349782416077457	.
18	32405228	A	T	18	34825264	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0596701097270952	.
18	32405229	A	C	18	34825265	y	y	splicing	DTNA(NM_001392:exon11:c.1002-2A>C;NM_032975:exon11:c.1002-2A>C;NM_032979:exon11:c.1002-2A>C;NM_001391:exon9:c.1002-2A>C;NM_001390:exon9:c.1002-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1002-2A>C;ENST00000315456:exon11:c.1002-2A>C;ENST00000598142:exon10:c.1002-2A>C;ENST00000598774:exon10:c.1002-2A>C;ENST00000269191:exon9:c.1002-2A>C;ENST00000444659:exon9:c.1002-2A>C;ENST00000399113:exon9:c.1002-2A>C)	.	.	0.99994515364607	.
18	32405229	A	G	18	34825265	y	y	splicing	DTNA(NM_001392:exon11:c.1002-2A>G;NM_032975:exon11:c.1002-2A>G;NM_032979:exon11:c.1002-2A>G;NM_001391:exon9:c.1002-2A>G;NM_001390:exon9:c.1002-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1002-2A>G;ENST00000315456:exon11:c.1002-2A>G;ENST00000598142:exon10:c.1002-2A>G;ENST00000598774:exon10:c.1002-2A>G;ENST00000269191:exon9:c.1002-2A>G;ENST00000444659:exon9:c.1002-2A>G;ENST00000399113:exon9:c.1002-2A>G)	.	.	0.99994515364607	.
18	32405229	A	T	18	34825265	y	y	splicing	DTNA(NM_001392:exon11:c.1002-2A>T;NM_032975:exon11:c.1002-2A>T;NM_032979:exon11:c.1002-2A>T;NM_001391:exon9:c.1002-2A>T;NM_001390:exon9:c.1002-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1002-2A>T;ENST00000315456:exon11:c.1002-2A>T;ENST00000598142:exon10:c.1002-2A>T;ENST00000598774:exon10:c.1002-2A>T;ENST00000269191:exon9:c.1002-2A>T;ENST00000444659:exon9:c.1002-2A>T;ENST00000399113:exon9:c.1002-2A>T)	.	.	0.999933834912627	.
18	32405230	G	A	18	34825266	y	y	splicing	DTNA(NM_001392:exon11:c.1002-1G>A;NM_032975:exon11:c.1002-1G>A;NM_032979:exon11:c.1002-1G>A;NM_001391:exon9:c.1002-1G>A;NM_001390:exon9:c.1002-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1002-1G>A;ENST00000315456:exon11:c.1002-1G>A;ENST00000598142:exon10:c.1002-1G>A;ENST00000598774:exon10:c.1002-1G>A;ENST00000269191:exon9:c.1002-1G>A;ENST00000444659:exon9:c.1002-1G>A;ENST00000399113:exon9:c.1002-1G>A)	.	.	0.99993751222706	.
18	32405230	G	C	18	34825266	y	y	splicing	DTNA(NM_001392:exon11:c.1002-1G>C;NM_032975:exon11:c.1002-1G>C;NM_032979:exon11:c.1002-1G>C;NM_001391:exon9:c.1002-1G>C;NM_001390:exon9:c.1002-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1002-1G>C;ENST00000315456:exon11:c.1002-1G>C;ENST00000598142:exon10:c.1002-1G>C;ENST00000598774:exon10:c.1002-1G>C;ENST00000269191:exon9:c.1002-1G>C;ENST00000444659:exon9:c.1002-1G>C;ENST00000399113:exon9:c.1002-1G>C)	.	.	0.99993751222706	.
18	32405230	G	T	18	34825266	y	y	splicing	DTNA(NM_001392:exon11:c.1002-1G>T;NM_032975:exon11:c.1002-1G>T;NM_032979:exon11:c.1002-1G>T;NM_001391:exon9:c.1002-1G>T;NM_001390:exon9:c.1002-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1002-1G>T;ENST00000315456:exon11:c.1002-1G>T;ENST00000598142:exon10:c.1002-1G>T;ENST00000598774:exon10:c.1002-1G>T;ENST00000269191:exon9:c.1002-1G>T;ENST00000444659:exon9:c.1002-1G>T;ENST00000399113:exon9:c.1002-1G>T)	.	.	0.99993751222706	.
18	32405231	T	A	18	34825267	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon11:c.T1002A:p.V334V;DTNA:NM_001392:exon11:c.T1002A:p.V334V;DTNA:NM_001390:exon9:c.T1002A:p.V334V;DTNA:NM_001391:exon9:c.T1002A:p.V334V;DTNA:NM_032975:exon11:c.T1002A:p.V334V;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1002A:p.V334V;ENSG00000134769:ENST00000269191:exon9:c.T1002A:p.V334V;ENSG00000134769:ENST00000283365:exon11:c.T1002A:p.V334V;ENSG00000134769:ENST00000399113:exon9:c.T1002A:p.V334V;ENSG00000134769:ENST00000598774:exon10:c.T1002A:p.V334V;ENSG00000134769:ENST00000315456:exon11:c.T1002A:p.V334V;ENSG00000134769:ENST00000598142:exon10:c.T1002A:p.V334V;	1.64679880948906E-4	.
18	32405231	T	C	18	34825267	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon11:c.T1002C:p.V334V;DTNA:NM_001392:exon11:c.T1002C:p.V334V;DTNA:NM_001390:exon9:c.T1002C:p.V334V;DTNA:NM_001391:exon9:c.T1002C:p.V334V;DTNA:NM_032975:exon11:c.T1002C:p.V334V;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1002C:p.V334V;ENSG00000134769:ENST00000269191:exon9:c.T1002C:p.V334V;ENSG00000134769:ENST00000283365:exon11:c.T1002C:p.V334V;ENSG00000134769:ENST00000399113:exon9:c.T1002C:p.V334V;ENSG00000134769:ENST00000598774:exon10:c.T1002C:p.V334V;ENSG00000134769:ENST00000315456:exon11:c.T1002C:p.V334V;ENSG00000134769:ENST00000598142:exon10:c.T1002C:p.V334V;	1.39106852296449E-4	.
18	32405231	T	G	18	34825267	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon11:c.T1002G:p.V334V;DTNA:NM_001392:exon11:c.T1002G:p.V334V;DTNA:NM_001390:exon9:c.T1002G:p.V334V;DTNA:NM_001391:exon9:c.T1002G:p.V334V;DTNA:NM_032975:exon11:c.T1002G:p.V334V;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1002G:p.V334V;ENSG00000134769:ENST00000269191:exon9:c.T1002G:p.V334V;ENSG00000134769:ENST00000283365:exon11:c.T1002G:p.V334V;ENSG00000134769:ENST00000399113:exon9:c.T1002G:p.V334V;ENSG00000134769:ENST00000598774:exon10:c.T1002G:p.V334V;ENSG00000134769:ENST00000315456:exon11:c.T1002G:p.V334V;ENSG00000134769:ENST00000598142:exon10:c.T1002G:p.V334V;	6.74652502348134E-4	.
18	32405232	G	A	18	34825268	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon11:c.G1003A:p.D335N;DTNA:NM_001392:exon11:c.G1003A:p.D335N;DTNA:NM_001390:exon9:c.G1003A:p.D335N;DTNA:NM_001391:exon9:c.G1003A:p.D335N;DTNA:NM_032975:exon11:c.G1003A:p.D335N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.G1003A:p.D335N;ENSG00000134769:ENST00000269191:exon9:c.G1003A:p.D335N;ENSG00000134769:ENST00000283365:exon11:c.G1003A:p.D335N;ENSG00000134769:ENST00000399113:exon9:c.G1003A:p.D335N;ENSG00000134769:ENST00000598774:exon10:c.G1003A:p.D335N;ENSG00000134769:ENST00000315456:exon11:c.G1003A:p.D335N;ENSG00000134769:ENST00000598142:exon10:c.G1003A:p.D335N;	0.00596248249129304	.
18	32405232	G	C	18	34825268	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon11:c.G1003C:p.D335H;DTNA:NM_001392:exon11:c.G1003C:p.D335H;DTNA:NM_001390:exon9:c.G1003C:p.D335H;DTNA:NM_001391:exon9:c.G1003C:p.D335H;DTNA:NM_032975:exon11:c.G1003C:p.D335H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.G1003C:p.D335H;ENSG00000134769:ENST00000269191:exon9:c.G1003C:p.D335H;ENSG00000134769:ENST00000283365:exon11:c.G1003C:p.D335H;ENSG00000134769:ENST00000399113:exon9:c.G1003C:p.D335H;ENSG00000134769:ENST00000598774:exon10:c.G1003C:p.D335H;ENSG00000134769:ENST00000315456:exon11:c.G1003C:p.D335H;ENSG00000134769:ENST00000598142:exon10:c.G1003C:p.D335H;	0.00881220458952697	.
18	32405232	G	T	18	34825268	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon11:c.G1003T:p.D335Y;DTNA:NM_001392:exon11:c.G1003T:p.D335Y;DTNA:NM_001390:exon9:c.G1003T:p.D335Y;DTNA:NM_001391:exon9:c.G1003T:p.D335Y;DTNA:NM_032975:exon11:c.G1003T:p.D335Y;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.G1003T:p.D335Y;ENSG00000134769:ENST00000269191:exon9:c.G1003T:p.D335Y;ENSG00000134769:ENST00000283365:exon11:c.G1003T:p.D335Y;ENSG00000134769:ENST00000399113:exon9:c.G1003T:p.D335Y;ENSG00000134769:ENST00000598774:exon10:c.G1003T:p.D335Y;ENSG00000134769:ENST00000315456:exon11:c.G1003T:p.D335Y;ENSG00000134769:ENST00000598142:exon10:c.G1003T:p.D335Y;	0.00206964680950602	.
18	32405237	T	A	18	34825273	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon11:c.T1008A:p.T336T;DTNA:NM_001392:exon11:c.T1008A:p.T336T;DTNA:NM_001390:exon9:c.T1008A:p.T336T;DTNA:NM_001391:exon9:c.T1008A:p.T336T;DTNA:NM_032975:exon11:c.T1008A:p.T336T;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1008A:p.T336T;ENSG00000134769:ENST00000269191:exon9:c.T1008A:p.T336T;ENSG00000134769:ENST00000283365:exon11:c.T1008A:p.T336T;ENSG00000134769:ENST00000399113:exon9:c.T1008A:p.T336T;ENSG00000134769:ENST00000598774:exon10:c.T1008A:p.T336T;ENSG00000134769:ENST00000315456:exon11:c.T1008A:p.T336T;ENSG00000134769:ENST00000598142:exon10:c.T1008A:p.T336T;	1.72569874917483E-5	0.0
18	32405237	T	C	18	34825273	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon11:c.T1008C:p.T336T;DTNA:NM_001392:exon11:c.T1008C:p.T336T;DTNA:NM_001390:exon9:c.T1008C:p.T336T;DTNA:NM_001391:exon9:c.T1008C:p.T336T;DTNA:NM_032975:exon11:c.T1008C:p.T336T;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1008C:p.T336T;ENSG00000134769:ENST00000269191:exon9:c.T1008C:p.T336T;ENSG00000134769:ENST00000283365:exon11:c.T1008C:p.T336T;ENSG00000134769:ENST00000399113:exon9:c.T1008C:p.T336T;ENSG00000134769:ENST00000598774:exon10:c.T1008C:p.T336T;ENSG00000134769:ENST00000315456:exon11:c.T1008C:p.T336T;ENSG00000134769:ENST00000598142:exon10:c.T1008C:p.T336T;	1.72569874917483E-5	0.0
18	32405237	T	G	18	34825273	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon11:c.T1008G:p.T336T;DTNA:NM_001392:exon11:c.T1008G:p.T336T;DTNA:NM_001390:exon9:c.T1008G:p.T336T;DTNA:NM_001391:exon9:c.T1008G:p.T336T;DTNA:NM_032975:exon11:c.T1008G:p.T336T;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1008G:p.T336T;ENSG00000134769:ENST00000269191:exon9:c.T1008G:p.T336T;ENSG00000134769:ENST00000283365:exon11:c.T1008G:p.T336T;ENSG00000134769:ENST00000399113:exon9:c.T1008G:p.T336T;ENSG00000134769:ENST00000598774:exon10:c.T1008G:p.T336T;ENSG00000134769:ENST00000315456:exon11:c.T1008G:p.T336T;ENSG00000134769:ENST00000598142:exon10:c.T1008G:p.T336T;	4.01166423202916E-5	0.022
18	32405238	T	A	18	34825274	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon11:c.T1009A:p.W337R;DTNA:NM_001392:exon11:c.T1009A:p.W337R;DTNA:NM_001390:exon9:c.T1009A:p.W337R;DTNA:NM_001391:exon9:c.T1009A:p.W337R;DTNA:NM_032975:exon11:c.T1009A:p.W337R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1009A:p.W337R;ENSG00000134769:ENST00000269191:exon9:c.T1009A:p.W337R;ENSG00000134769:ENST00000283365:exon11:c.T1009A:p.W337R;ENSG00000134769:ENST00000399113:exon9:c.T1009A:p.W337R;ENSG00000134769:ENST00000598774:exon10:c.T1009A:p.W337R;ENSG00000134769:ENST00000315456:exon11:c.T1009A:p.W337R;ENSG00000134769:ENST00000598142:exon10:c.T1009A:p.W337R;	4.76981966148334E-4	0.084
18	32405238	T	C	18	34825274	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon11:c.T1009C:p.W337R;DTNA:NM_001392:exon11:c.T1009C:p.W337R;DTNA:NM_001390:exon9:c.T1009C:p.W337R;DTNA:NM_001391:exon9:c.T1009C:p.W337R;DTNA:NM_032975:exon11:c.T1009C:p.W337R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1009C:p.W337R;ENSG00000134769:ENST00000269191:exon9:c.T1009C:p.W337R;ENSG00000134769:ENST00000283365:exon11:c.T1009C:p.W337R;ENSG00000134769:ENST00000399113:exon9:c.T1009C:p.W337R;ENSG00000134769:ENST00000598774:exon10:c.T1009C:p.W337R;ENSG00000134769:ENST00000315456:exon11:c.T1009C:p.W337R;ENSG00000134769:ENST00000598142:exon10:c.T1009C:p.W337R;	0.00222090664136428	0.08
18	32405238	T	G	18	34825274	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon11:c.T1009G:p.W337G;DTNA:NM_001392:exon11:c.T1009G:p.W337G;DTNA:NM_001390:exon9:c.T1009G:p.W337G;DTNA:NM_001391:exon9:c.T1009G:p.W337G;DTNA:NM_032975:exon11:c.T1009G:p.W337G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.T1009G:p.W337G;ENSG00000134769:ENST00000269191:exon9:c.T1009G:p.W337G;ENSG00000134769:ENST00000283365:exon11:c.T1009G:p.W337G;ENSG00000134769:ENST00000399113:exon9:c.T1009G:p.W337G;ENSG00000134769:ENST00000598774:exon10:c.T1009G:p.W337G;ENSG00000134769:ENST00000315456:exon11:c.T1009G:p.W337G;ENSG00000134769:ENST00000598142:exon10:c.T1009G:p.W337G;	0.0341040814889934	0.156
18	32405239	G	A	18	34825275	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon11:c.G1010A:p.W337X;DTNA:NM_001392:exon11:c.G1010A:p.W337X;DTNA:NM_001390:exon9:c.G1010A:p.W337X;DTNA:NM_001391:exon9:c.G1010A:p.W337X;DTNA:NM_032975:exon11:c.G1010A:p.W337X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000444659:exon9:c.G1010A:p.W337X;ENSG00000134769:ENST00000269191:exon9:c.G1010A:p.W337X;ENSG00000134769:ENST00000283365:exon11:c.G1010A:p.W337X;ENSG00000134769:ENST00000399113:exon9:c.G1010A:p.W337X;ENSG00000134769:ENST00000598774:exon10:c.G1010A:p.W337X;ENSG00000134769:ENST00000315456:exon11:c.G1010A:p.W337X;ENSG00000134769:ENST00000598142:exon10:c.G1010A:p.W337X;	0.999960454204918	0.994
18	32405239	G	C	18	34825275	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon11:c.G1010C:p.W337S;DTNA:NM_001392:exon11:c.G1010C:p.W337S;DTNA:NM_001390:exon9:c.G1010C:p.W337S;DTNA:NM_001391:exon9:c.G1010C:p.W337S;DTNA:NM_032975:exon11:c.G1010C:p.W337S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.G1010C:p.W337S;ENSG00000134769:ENST00000269191:exon9:c.G1010C:p.W337S;ENSG00000134769:ENST00000283365:exon11:c.G1010C:p.W337S;ENSG00000134769:ENST00000399113:exon9:c.G1010C:p.W337S;ENSG00000134769:ENST00000598774:exon10:c.G1010C:p.W337S;ENSG00000134769:ENST00000315456:exon11:c.G1010C:p.W337S;ENSG00000134769:ENST00000598142:exon10:c.G1010C:p.W337S;	0.99941701321676	0.852
18	32405239	G	T	18	34825275	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon11:c.G1010T:p.W337L;DTNA:NM_001392:exon11:c.G1010T:p.W337L;DTNA:NM_001390:exon9:c.G1010T:p.W337L;DTNA:NM_001391:exon9:c.G1010T:p.W337L;DTNA:NM_032975:exon11:c.G1010T:p.W337L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon9:c.G1010T:p.W337L;ENSG00000134769:ENST00000269191:exon9:c.G1010T:p.W337L;ENSG00000134769:ENST00000283365:exon11:c.G1010T:p.W337L;ENSG00000134769:ENST00000399113:exon9:c.G1010T:p.W337L;ENSG00000134769:ENST00000598774:exon10:c.G1010T:p.W337L;ENSG00000134769:ENST00000315456:exon11:c.G1010T:p.W337L;ENSG00000134769:ENST00000598142:exon10:c.G1010T:p.W337L;	0.998640406057336	0.734
18	32405240	G	A	18	34825276	y	y	splicing	DTNA(NM_001392:exon11:c.1010+1G>A;NM_032975:exon11:c.1010+1G>A;NM_032979:exon11:c.1010+1G>A;NM_001391:exon9:c.1010+1G>A;NM_001390:exon9:c.1010+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1010+1G>A;ENST00000315456:exon11:c.1010+1G>A;ENST00000598142:exon10:c.1010+1G>A;ENST00000598774:exon10:c.1010+1G>A;ENST00000269191:exon9:c.1010+1G>A;ENST00000444659:exon9:c.1010+1G>A;ENST00000399113:exon9:c.1010+1G>A)	.	.	0.999990361384395	0.938
18	32405240	G	C	18	34825276	y	y	splicing	DTNA(NM_001392:exon11:c.1010+1G>C;NM_032975:exon11:c.1010+1G>C;NM_032979:exon11:c.1010+1G>C;NM_001391:exon9:c.1010+1G>C;NM_001390:exon9:c.1010+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1010+1G>C;ENST00000315456:exon11:c.1010+1G>C;ENST00000598142:exon10:c.1010+1G>C;ENST00000598774:exon10:c.1010+1G>C;ENST00000269191:exon9:c.1010+1G>C;ENST00000444659:exon9:c.1010+1G>C;ENST00000399113:exon9:c.1010+1G>C)	.	.	0.999990361384395	0.938
18	32405240	G	T	18	34825276	y	y	splicing	DTNA(NM_001392:exon11:c.1010+1G>T;NM_032975:exon11:c.1010+1G>T;NM_032979:exon11:c.1010+1G>T;NM_001391:exon9:c.1010+1G>T;NM_001390:exon9:c.1010+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1010+1G>T;ENST00000315456:exon11:c.1010+1G>T;ENST00000598142:exon10:c.1010+1G>T;ENST00000598774:exon10:c.1010+1G>T;ENST00000269191:exon9:c.1010+1G>T;ENST00000444659:exon9:c.1010+1G>T;ENST00000399113:exon9:c.1010+1G>T)	.	.	0.999990361384395	0.938
18	32405241	T	A	18	34825277	y	y	splicing	DTNA(NM_001392:exon11:c.1010+2T>A;NM_032975:exon11:c.1010+2T>A;NM_032979:exon11:c.1010+2T>A;NM_001391:exon9:c.1010+2T>A;NM_001390:exon9:c.1010+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1010+2T>A;ENST00000315456:exon11:c.1010+2T>A;ENST00000598142:exon10:c.1010+2T>A;ENST00000598774:exon10:c.1010+2T>A;ENST00000269191:exon9:c.1010+2T>A;ENST00000444659:exon9:c.1010+2T>A;ENST00000399113:exon9:c.1010+2T>A)	.	.	0.999988247793601	0.932
18	32405241	T	C	18	34825277	y	y	splicing	DTNA(NM_001392:exon11:c.1010+2T>C;NM_032975:exon11:c.1010+2T>C;NM_032979:exon11:c.1010+2T>C;NM_001391:exon9:c.1010+2T>C;NM_001390:exon9:c.1010+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1010+2T>C;ENST00000315456:exon11:c.1010+2T>C;ENST00000598142:exon10:c.1010+2T>C;ENST00000598774:exon10:c.1010+2T>C;ENST00000269191:exon9:c.1010+2T>C;ENST00000444659:exon9:c.1010+2T>C;ENST00000399113:exon9:c.1010+2T>C)	.	.	0.99340600729494	0.676
18	32405241	T	G	18	34825277	y	y	splicing	DTNA(NM_001392:exon11:c.1010+2T>G;NM_032975:exon11:c.1010+2T>G;NM_032979:exon11:c.1010+2T>G;NM_001391:exon9:c.1010+2T>G;NM_001390:exon9:c.1010+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon11:c.1010+2T>G;ENST00000315456:exon11:c.1010+2T>G;ENST00000598142:exon10:c.1010+2T>G;ENST00000598774:exon10:c.1010+2T>G;ENST00000269191:exon9:c.1010+2T>G;ENST00000444659:exon9:c.1010+2T>G;ENST00000399113:exon9:c.1010+2T>G)	.	.	0.999988247793601	0.932
18	32405242	A	C	18	34825278	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999344578425052	0.968
18	32405242	A	G	18	34825278	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.906214250706447	0.504
18	32405242	A	T	18	34825278	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998254381830713	0.93
18	32405243	A	C	18	34825279	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997287283063509	0.824
18	32405243	A	G	18	34825279	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998630699516009	0.89
18	32405243	A	T	18	34825279	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999100654565043	0.88
18	32405244	G	A	18	34825280	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999264367617599	0.886
18	32405244	G	C	18	34825280	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99958154049967	0.906
18	32405244	G	T	18	34825280	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999866509888594	0.872
18	32405245	T	A	18	34825281	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.945598998815053	0.656
18	32405245	T	C	18	34825281	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.97025259495383	0.64
18	32405245	T	G	18	34825281	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.930478732388159	0.558
18	32405246	A	C	18	34825282	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.13115162891183E-4	0.002
18	32405246	A	G	18	34825282	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.04375917686578E-4	0.0
18	32405246	A	T	18	34825282	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.63490873950063E-4	0.004
18	32405247	G	A	18	34825283	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.30775901788895E-4	0.006
18	32405247	G	C	18	34825283	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.2777345682912E-4	0.0
18	32405247	G	T	18	34825283	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.2777345682912E-4	0.0
18	32407545	G	A	18	34827581	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.0323559620347E-5	0.008
18	32407545	G	C	18	34827581	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.56227402875007E-5	0.002
18	32407545	G	T	18	34827581	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.56227402875007E-5	0.002
18	32407546	T	A	18	34827582	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0589627509883925	0.384
18	32407546	T	C	18	34827582	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.25156913265147E-4	0.108
18	32407546	T	G	18	34827582	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.065697873347735	0.386
18	32407547	T	A	18	34827583	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.994338204347047	0.822
18	32407547	T	C	18	34827583	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.49907771514833	0.516
18	32407547	T	G	18	34827583	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.991311603407252	0.73
18	32407548	T	A	18	34827584	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.432219217867471	0.466
18	32407548	T	C	18	34827584	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00135360962587032	0.098
18	32407548	T	G	18	34827584	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.359332028990056	0.416
18	32407549	T	A	18	34827585	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999630724957199	0.992
18	32407549	T	C	18	34827585	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.60239438373516E-4	0.002
18	32407549	T	G	18	34827585	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00196429223701559	0.202
18	32407550	G	A	18	34827586	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.25867503857939E-4	0.028
18	32407550	G	C	18	34827586	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.76247428264295E-5	0.006
18	32407550	G	T	18	34827586	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.28749085381226E-5	0.002
18	32407551	T	A	18	34827587	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.921724073604402	0.732
18	32407551	T	C	18	34827587	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0108956538044879	0.11
18	32407551	T	G	18	34827587	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.913353584502481	0.722
18	32407552	T	A	18	34827588	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.537104642909489	0.636
18	32407552	T	C	18	34827588	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0074947379599182	0.044
18	32407552	T	G	18	34827588	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.78542073142601	0.632
18	32407553	T	A	18	34827589	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.92788161846705E-4	0.028
18	32407553	T	C	18	34827589	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.61931510300985E-4	0.002
18	32407553	T	G	18	34827589	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.97652450136201E-4	0.046
18	32407554	T	A	18	34827590	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0283068073278131	0.274
18	32407554	T	C	18	34827590	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.57589779035181E-5	0.004
18	32407554	T	G	18	34827590	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.974124240482562	0.714
18	32407555	A	C	18	34827591	y	y	splicing	DTNA(NM_001392:exon12:c.1011-2A>C;NM_032975:exon12:c.1011-2A>C;NM_032979:exon12:c.1011-2A>C;NM_001198940:exon11:c.1002-2A>C;NM_001198939:exon11:c.1002-2A>C;NM_001198938:exon11:c.1002-2A>C;NM_001128175:exon11:c.1002-2A>C;NM_001198941:exon10:c.1002-2A>C;NM_032978:exon10:c.1002-2A>C;NM_001391:exon10:c.1011-2A>C;NM_001390:exon10:c.1011-2A>C;NM_001198943:exon3:c.252-2A>C;NM_001198944:exon3:c.48-2A>C;NM_001198942:exon3:c.48-2A>C;NM_032981:exon3:c.48-2A>C;NM_032980:exon3:c.48-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1011-2A>C;ENST00000315456:exon12:c.1011-2A>C;ENST00000598334:exon11:c.1002-2A>C;ENST00000399121:exon11:c.1002-2A>C;ENST00000554864:exon11:c.1002-2A>C;ENST00000399097:exon11:c.48-2A>C;ENST00000269190:exon13:c.1014-2A>C;ENST00000595022:exon11:c.1002-2A>C;ENST00000598142:exon11:c.1011-2A>C;ENST00000598774:exon11:c.1011-2A>C;ENST00000348997:exon10:c.1002-2A>C;ENST00000597599:exon10:c.1002-2A>C;ENST00000269191:exon10:c.1011-2A>C;ENST00000444659:exon10:c.1011-2A>C;ENST00000399113:exon10:c.1011-2A>C;ENST00000601125:exon3:c.48-2A>C;ENST00000590727:exon3:c.252-2A>C;ENST00000269192:exon3:c.48-2A>C;ENST00000591182:exon3:c.48-2A>C;ENST00000556414:exon3:c.48-2A>C;ENST00000597674:exon3:c.48-2A>C;ENST00000599844:exon3:c.48-2A>C)	.	.	0.999988247793601	0.93
18	32407555	A	G	18	34827591	y	y	splicing	DTNA(NM_001392:exon12:c.1011-2A>G;NM_032975:exon12:c.1011-2A>G;NM_032979:exon12:c.1011-2A>G;NM_001198940:exon11:c.1002-2A>G;NM_001198939:exon11:c.1002-2A>G;NM_001198938:exon11:c.1002-2A>G;NM_001128175:exon11:c.1002-2A>G;NM_001198941:exon10:c.1002-2A>G;NM_032978:exon10:c.1002-2A>G;NM_001391:exon10:c.1011-2A>G;NM_001390:exon10:c.1011-2A>G;NM_001198943:exon3:c.252-2A>G;NM_001198944:exon3:c.48-2A>G;NM_001198942:exon3:c.48-2A>G;NM_032981:exon3:c.48-2A>G;NM_032980:exon3:c.48-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1011-2A>G;ENST00000315456:exon12:c.1011-2A>G;ENST00000598334:exon11:c.1002-2A>G;ENST00000399121:exon11:c.1002-2A>G;ENST00000554864:exon11:c.1002-2A>G;ENST00000399097:exon11:c.48-2A>G;ENST00000269190:exon13:c.1014-2A>G;ENST00000595022:exon11:c.1002-2A>G;ENST00000598142:exon11:c.1011-2A>G;ENST00000598774:exon11:c.1011-2A>G;ENST00000348997:exon10:c.1002-2A>G;ENST00000597599:exon10:c.1002-2A>G;ENST00000269191:exon10:c.1011-2A>G;ENST00000444659:exon10:c.1011-2A>G;ENST00000399113:exon10:c.1011-2A>G;ENST00000601125:exon3:c.48-2A>G;ENST00000590727:exon3:c.252-2A>G;ENST00000269192:exon3:c.48-2A>G;ENST00000591182:exon3:c.48-2A>G;ENST00000556414:exon3:c.48-2A>G;ENST00000597674:exon3:c.48-2A>G;ENST00000599844:exon3:c.48-2A>G)	.	.	0.999988247793601	0.93
18	32407555	A	T	18	34827591	y	y	splicing	DTNA(NM_001392:exon12:c.1011-2A>T;NM_032975:exon12:c.1011-2A>T;NM_032979:exon12:c.1011-2A>T;NM_001198940:exon11:c.1002-2A>T;NM_001198939:exon11:c.1002-2A>T;NM_001198938:exon11:c.1002-2A>T;NM_001128175:exon11:c.1002-2A>T;NM_001198941:exon10:c.1002-2A>T;NM_032978:exon10:c.1002-2A>T;NM_001391:exon10:c.1011-2A>T;NM_001390:exon10:c.1011-2A>T;NM_001198943:exon3:c.252-2A>T;NM_001198944:exon3:c.48-2A>T;NM_001198942:exon3:c.48-2A>T;NM_032981:exon3:c.48-2A>T;NM_032980:exon3:c.48-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1011-2A>T;ENST00000315456:exon12:c.1011-2A>T;ENST00000598334:exon11:c.1002-2A>T;ENST00000399121:exon11:c.1002-2A>T;ENST00000554864:exon11:c.1002-2A>T;ENST00000399097:exon11:c.48-2A>T;ENST00000269190:exon13:c.1014-2A>T;ENST00000595022:exon11:c.1002-2A>T;ENST00000598142:exon11:c.1011-2A>T;ENST00000598774:exon11:c.1011-2A>T;ENST00000348997:exon10:c.1002-2A>T;ENST00000597599:exon10:c.1002-2A>T;ENST00000269191:exon10:c.1011-2A>T;ENST00000444659:exon10:c.1011-2A>T;ENST00000399113:exon10:c.1011-2A>T;ENST00000601125:exon3:c.48-2A>T;ENST00000590727:exon3:c.252-2A>T;ENST00000269192:exon3:c.48-2A>T;ENST00000591182:exon3:c.48-2A>T;ENST00000556414:exon3:c.48-2A>T;ENST00000597674:exon3:c.48-2A>T;ENST00000599844:exon3:c.48-2A>T)	.	.	0.999988247793601	0.93
18	32407556	G	A	18	34827592	y	y	splicing	DTNA(NM_001392:exon12:c.1011-1G>A;NM_032975:exon12:c.1011-1G>A;NM_032979:exon12:c.1011-1G>A;NM_001198940:exon11:c.1002-1G>A;NM_001198939:exon11:c.1002-1G>A;NM_001198938:exon11:c.1002-1G>A;NM_001128175:exon11:c.1002-1G>A;NM_001198941:exon10:c.1002-1G>A;NM_032978:exon10:c.1002-1G>A;NM_001391:exon10:c.1011-1G>A;NM_001390:exon10:c.1011-1G>A;NM_001198943:exon3:c.252-1G>A;NM_001198944:exon3:c.48-1G>A;NM_001198942:exon3:c.48-1G>A;NM_032981:exon3:c.48-1G>A;NM_032980:exon3:c.48-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1011-1G>A;ENST00000315456:exon12:c.1011-1G>A;ENST00000598334:exon11:c.1002-1G>A;ENST00000399121:exon11:c.1002-1G>A;ENST00000554864:exon11:c.1002-1G>A;ENST00000399097:exon11:c.48-1G>A;ENST00000269190:exon13:c.1014-1G>A;ENST00000595022:exon11:c.1002-1G>A;ENST00000598142:exon11:c.1011-1G>A;ENST00000598774:exon11:c.1011-1G>A;ENST00000348997:exon10:c.1002-1G>A;ENST00000597599:exon10:c.1002-1G>A;ENST00000269191:exon10:c.1011-1G>A;ENST00000444659:exon10:c.1011-1G>A;ENST00000399113:exon10:c.1011-1G>A;ENST00000601125:exon3:c.48-1G>A;ENST00000590727:exon3:c.252-1G>A;ENST00000269192:exon3:c.48-1G>A;ENST00000591182:exon3:c.48-1G>A;ENST00000556414:exon3:c.48-1G>A;ENST00000597674:exon3:c.48-1G>A;ENST00000599844:exon3:c.48-1G>A)	.	.	0.999990361384395	0.938
18	32407556	G	C	18	34827592	y	y	splicing	DTNA(NM_001392:exon12:c.1011-1G>C;NM_032975:exon12:c.1011-1G>C;NM_032979:exon12:c.1011-1G>C;NM_001198940:exon11:c.1002-1G>C;NM_001198939:exon11:c.1002-1G>C;NM_001198938:exon11:c.1002-1G>C;NM_001128175:exon11:c.1002-1G>C;NM_001198941:exon10:c.1002-1G>C;NM_032978:exon10:c.1002-1G>C;NM_001391:exon10:c.1011-1G>C;NM_001390:exon10:c.1011-1G>C;NM_001198943:exon3:c.252-1G>C;NM_001198944:exon3:c.48-1G>C;NM_001198942:exon3:c.48-1G>C;NM_032981:exon3:c.48-1G>C;NM_032980:exon3:c.48-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1011-1G>C;ENST00000315456:exon12:c.1011-1G>C;ENST00000598334:exon11:c.1002-1G>C;ENST00000399121:exon11:c.1002-1G>C;ENST00000554864:exon11:c.1002-1G>C;ENST00000399097:exon11:c.48-1G>C;ENST00000269190:exon13:c.1014-1G>C;ENST00000595022:exon11:c.1002-1G>C;ENST00000598142:exon11:c.1011-1G>C;ENST00000598774:exon11:c.1011-1G>C;ENST00000348997:exon10:c.1002-1G>C;ENST00000597599:exon10:c.1002-1G>C;ENST00000269191:exon10:c.1011-1G>C;ENST00000444659:exon10:c.1011-1G>C;ENST00000399113:exon10:c.1011-1G>C;ENST00000601125:exon3:c.48-1G>C;ENST00000590727:exon3:c.252-1G>C;ENST00000269192:exon3:c.48-1G>C;ENST00000591182:exon3:c.48-1G>C;ENST00000556414:exon3:c.48-1G>C;ENST00000597674:exon3:c.48-1G>C;ENST00000599844:exon3:c.48-1G>C)	.	.	0.999990361384395	0.938
18	32407556	G	T	18	34827592	y	y	splicing	DTNA(NM_001392:exon12:c.1011-1G>T;NM_032975:exon12:c.1011-1G>T;NM_032979:exon12:c.1011-1G>T;NM_001198940:exon11:c.1002-1G>T;NM_001198939:exon11:c.1002-1G>T;NM_001198938:exon11:c.1002-1G>T;NM_001128175:exon11:c.1002-1G>T;NM_001198941:exon10:c.1002-1G>T;NM_032978:exon10:c.1002-1G>T;NM_001391:exon10:c.1011-1G>T;NM_001390:exon10:c.1011-1G>T;NM_001198943:exon3:c.252-1G>T;NM_001198944:exon3:c.48-1G>T;NM_001198942:exon3:c.48-1G>T;NM_032981:exon3:c.48-1G>T;NM_032980:exon3:c.48-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1011-1G>T;ENST00000315456:exon12:c.1011-1G>T;ENST00000598334:exon11:c.1002-1G>T;ENST00000399121:exon11:c.1002-1G>T;ENST00000554864:exon11:c.1002-1G>T;ENST00000399097:exon11:c.48-1G>T;ENST00000269190:exon13:c.1014-1G>T;ENST00000595022:exon11:c.1002-1G>T;ENST00000598142:exon11:c.1011-1G>T;ENST00000598774:exon11:c.1011-1G>T;ENST00000348997:exon10:c.1002-1G>T;ENST00000597599:exon10:c.1002-1G>T;ENST00000269191:exon10:c.1011-1G>T;ENST00000444659:exon10:c.1011-1G>T;ENST00000399113:exon10:c.1011-1G>T;ENST00000601125:exon3:c.48-1G>T;ENST00000590727:exon3:c.252-1G>T;ENST00000269192:exon3:c.48-1G>T;ENST00000591182:exon3:c.48-1G>T;ENST00000556414:exon3:c.48-1G>T;ENST00000597674:exon3:c.48-1G>T;ENST00000599844:exon3:c.48-1G>T)	.	.	0.999990361384395	0.938
18	32407557	G	A	18	34827593	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon12:c.G1011A:p.W337X;DTNA:NM_001392:exon12:c.G1011A:p.W337X;DTNA:NM_001390:exon10:c.G1011A:p.W337X;DTNA:NM_001391:exon10:c.G1011A:p.W337X;DTNA:NM_032975:exon12:c.G1011A:p.W337X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000444659:exon10:c.G1011A:p.W337X;ENSG00000134769:ENST00000269191:exon10:c.G1011A:p.W337X;ENSG00000134769:ENST00000283365:exon12:c.G1011A:p.W337X;ENSG00000134769:ENST00000399113:exon10:c.G1011A:p.W337X;ENSG00000134769:ENST00000598774:exon11:c.G1011A:p.W337X;ENSG00000134769:ENST00000315456:exon12:c.G1011A:p.W337X;ENSG00000134769:ENST00000598142:exon11:c.G1011A:p.W337X;	0.997390635963638	0.894
18	32407557	G	C	18	34827593	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.G1011C:p.W337C;DTNA:NM_001392:exon12:c.G1011C:p.W337C;DTNA:NM_001390:exon10:c.G1011C:p.W337C;DTNA:NM_001391:exon10:c.G1011C:p.W337C;DTNA:NM_032975:exon12:c.G1011C:p.W337C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon10:c.G1011C:p.W337C;ENSG00000134769:ENST00000269191:exon10:c.G1011C:p.W337C;ENSG00000134769:ENST00000283365:exon12:c.G1011C:p.W337C;ENSG00000134769:ENST00000399113:exon10:c.G1011C:p.W337C;ENSG00000134769:ENST00000269190:exon13:c.G1014C:p.M338I;ENSG00000134769:ENST00000598774:exon11:c.G1011C:p.W337C;ENSG00000134769:ENST00000315456:exon12:c.G1011C:p.W337C;ENSG00000134769:ENST00000598142:exon11:c.G1011C:p.W337C;	0.999873698788073	0.902
18	32407557	G	T	18	34827593	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.G1011T:p.W337C;DTNA:NM_001392:exon12:c.G1011T:p.W337C;DTNA:NM_001390:exon10:c.G1011T:p.W337C;DTNA:NM_001391:exon10:c.G1011T:p.W337C;DTNA:NM_032975:exon12:c.G1011T:p.W337C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000444659:exon10:c.G1011T:p.W337C;ENSG00000134769:ENST00000269191:exon10:c.G1011T:p.W337C;ENSG00000134769:ENST00000283365:exon12:c.G1011T:p.W337C;ENSG00000134769:ENST00000399113:exon10:c.G1011T:p.W337C;ENSG00000134769:ENST00000269190:exon13:c.G1014T:p.M338I;ENSG00000134769:ENST00000598774:exon11:c.G1011T:p.W337C;ENSG00000134769:ENST00000315456:exon12:c.G1011T:p.W337C;ENSG00000134769:ENST00000598142:exon11:c.G1011T:p.W337C;	0.999908482296886	0.952
18	32407558	C	A	18	34827594	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.C1012A:p.P338T;DTNA:NM_001392:exon12:c.C1012A:p.P338T;DTNA:NM_032978:exon10:c.C1003A:p.P335T;DTNA:NM_001390:exon10:c.C1012A:p.P338T;DTNA:NM_001198938:exon11:c.C1003A:p.P335T;DTNA:NM_001198943:exon3:c.C253A:p.P85T;DTNA:NM_001198942:exon3:c.C49A:p.P17T;DTNA:NM_001198944:exon3:c.C49A:p.P17T;DTNA:NM_001391:exon10:c.C1012A:p.P338T;DTNA:NM_032981:exon3:c.C49A:p.P17T;DTNA:NM_001128175:exon11:c.C1003A:p.P335T;DTNA:NM_001198940:exon11:c.C1003A:p.P335T;DTNA:NM_001198939:exon11:c.C1003A:p.P335T;DTNA:NM_001198941:exon10:c.C1003A:p.P335T;DTNA:NM_032980:exon3:c.C49A:p.P17T;DTNA:NM_032975:exon12:c.C1012A:p.P338T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.C1003A:p.P335T;ENSG00000134769:ENST00000399097:exon11:c.C49A:p.P17T;ENSG00000134769:ENST00000598334:exon11:c.C1003A:p.P335T;ENSG00000134769:ENST00000595022:exon11:c.C1003A:p.P335T;ENSG00000134769:ENST00000444659:exon10:c.C1012A:p.P338T;ENSG00000134769:ENST00000269191:exon10:c.C1012A:p.P338T;ENSG00000134769:ENST00000283365:exon12:c.C1012A:p.P338T;ENSG00000134769:ENST00000399113:exon10:c.C1012A:p.P338T;ENSG00000134769:ENST00000599844:exon3:c.C49A:p.P17T;ENSG00000134769:ENST00000556414:exon3:c.C49A:p.P17T;ENSG00000134769:ENST00000269190:exon13:c.C1015A:p.P339T;ENSG00000134769:ENST00000399121:exon11:c.C1003A:p.P335T;ENSG00000134769:ENST00000269192:exon3:c.C49A:p.P17T;ENSG00000134769:ENST00000597599:exon10:c.C1003A:p.P335T;ENSG00000134769:ENST00000554864:exon11:c.C1003A:p.P335T;ENSG00000134769:ENST00000590727:exon3:c.C253A:p.P85T;ENSG00000134769:ENST00000597674:exon3:c.C49A:p.P17T;ENSG00000134769:ENST00000591182:exon3:c.C49A:p.P17T;ENSG00000134769:ENST00000598774:exon11:c.C1012A:p.P338T;ENSG00000134769:ENST00000315456:exon12:c.C1012A:p.P338T;ENSG00000134769:ENST00000598142:exon11:c.C1012A:p.P338T;ENSG00000134769:ENST00000601125:exon3:c.C49A:p.P17T;	0.992708558819609	0.848
18	32407558	C	G	18	34827594	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.C1012G:p.P338A;DTNA:NM_001392:exon12:c.C1012G:p.P338A;DTNA:NM_032978:exon10:c.C1003G:p.P335A;DTNA:NM_001390:exon10:c.C1012G:p.P338A;DTNA:NM_001198938:exon11:c.C1003G:p.P335A;DTNA:NM_001198943:exon3:c.C253G:p.P85A;DTNA:NM_001198942:exon3:c.C49G:p.P17A;DTNA:NM_001198944:exon3:c.C49G:p.P17A;DTNA:NM_001391:exon10:c.C1012G:p.P338A;DTNA:NM_032981:exon3:c.C49G:p.P17A;DTNA:NM_001128175:exon11:c.C1003G:p.P335A;DTNA:NM_001198940:exon11:c.C1003G:p.P335A;DTNA:NM_001198939:exon11:c.C1003G:p.P335A;DTNA:NM_001198941:exon10:c.C1003G:p.P335A;DTNA:NM_032980:exon3:c.C49G:p.P17A;DTNA:NM_032975:exon12:c.C1012G:p.P338A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.C1003G:p.P335A;ENSG00000134769:ENST00000399097:exon11:c.C49G:p.P17A;ENSG00000134769:ENST00000598334:exon11:c.C1003G:p.P335A;ENSG00000134769:ENST00000595022:exon11:c.C1003G:p.P335A;ENSG00000134769:ENST00000444659:exon10:c.C1012G:p.P338A;ENSG00000134769:ENST00000269191:exon10:c.C1012G:p.P338A;ENSG00000134769:ENST00000283365:exon12:c.C1012G:p.P338A;ENSG00000134769:ENST00000399113:exon10:c.C1012G:p.P338A;ENSG00000134769:ENST00000599844:exon3:c.C49G:p.P17A;ENSG00000134769:ENST00000556414:exon3:c.C49G:p.P17A;ENSG00000134769:ENST00000269190:exon13:c.C1015G:p.P339A;ENSG00000134769:ENST00000399121:exon11:c.C1003G:p.P335A;ENSG00000134769:ENST00000269192:exon3:c.C49G:p.P17A;ENSG00000134769:ENST00000597599:exon10:c.C1003G:p.P335A;ENSG00000134769:ENST00000554864:exon11:c.C1003G:p.P335A;ENSG00000134769:ENST00000590727:exon3:c.C253G:p.P85A;ENSG00000134769:ENST00000597674:exon3:c.C49G:p.P17A;ENSG00000134769:ENST00000591182:exon3:c.C49G:p.P17A;ENSG00000134769:ENST00000598774:exon11:c.C1012G:p.P338A;ENSG00000134769:ENST00000315456:exon12:c.C1012G:p.P338A;ENSG00000134769:ENST00000598142:exon11:c.C1012G:p.P338A;ENSG00000134769:ENST00000601125:exon3:c.C49G:p.P17A;	0.984302715926447	0.814
18	32407558	C	T	18	34827594	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.C1012T:p.P338S;DTNA:NM_001392:exon12:c.C1012T:p.P338S;DTNA:NM_032978:exon10:c.C1003T:p.P335S;DTNA:NM_001390:exon10:c.C1012T:p.P338S;DTNA:NM_001198938:exon11:c.C1003T:p.P335S;DTNA:NM_001198943:exon3:c.C253T:p.P85S;DTNA:NM_001198942:exon3:c.C49T:p.P17S;DTNA:NM_001198944:exon3:c.C49T:p.P17S;DTNA:NM_001391:exon10:c.C1012T:p.P338S;DTNA:NM_032981:exon3:c.C49T:p.P17S;DTNA:NM_001128175:exon11:c.C1003T:p.P335S;DTNA:NM_001198940:exon11:c.C1003T:p.P335S;DTNA:NM_001198939:exon11:c.C1003T:p.P335S;DTNA:NM_001198941:exon10:c.C1003T:p.P335S;DTNA:NM_032980:exon3:c.C49T:p.P17S;DTNA:NM_032975:exon12:c.C1012T:p.P338S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.C1003T:p.P335S;ENSG00000134769:ENST00000399097:exon11:c.C49T:p.P17S;ENSG00000134769:ENST00000598334:exon11:c.C1003T:p.P335S;ENSG00000134769:ENST00000595022:exon11:c.C1003T:p.P335S;ENSG00000134769:ENST00000444659:exon10:c.C1012T:p.P338S;ENSG00000134769:ENST00000269191:exon10:c.C1012T:p.P338S;ENSG00000134769:ENST00000283365:exon12:c.C1012T:p.P338S;ENSG00000134769:ENST00000399113:exon10:c.C1012T:p.P338S;ENSG00000134769:ENST00000599844:exon3:c.C49T:p.P17S;ENSG00000134769:ENST00000556414:exon3:c.C49T:p.P17S;ENSG00000134769:ENST00000269190:exon13:c.C1015T:p.P339S;ENSG00000134769:ENST00000399121:exon11:c.C1003T:p.P335S;ENSG00000134769:ENST00000269192:exon3:c.C49T:p.P17S;ENSG00000134769:ENST00000597599:exon10:c.C1003T:p.P335S;ENSG00000134769:ENST00000554864:exon11:c.C1003T:p.P335S;ENSG00000134769:ENST00000590727:exon3:c.C253T:p.P85S;ENSG00000134769:ENST00000597674:exon3:c.C49T:p.P17S;ENSG00000134769:ENST00000591182:exon3:c.C49T:p.P17S;ENSG00000134769:ENST00000598774:exon11:c.C1012T:p.P338S;ENSG00000134769:ENST00000315456:exon12:c.C1012T:p.P338S;ENSG00000134769:ENST00000598142:exon11:c.C1012T:p.P338S;ENSG00000134769:ENST00000601125:exon3:c.C49T:p.P17S;	0.976285951047782	0.866
18	32407638	G	A	18	34827674	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon12:c.G1092A:p.R364R;DTNA:NM_001392:exon12:c.G1092A:p.R364R;DTNA:NM_032978:exon10:c.G1083A:p.R361R;DTNA:NM_001390:exon10:c.G1092A:p.R364R;DTNA:NM_001198938:exon11:c.G1083A:p.R361R;DTNA:NM_001198943:exon3:c.G333A:p.R111R;DTNA:NM_001198942:exon3:c.G129A:p.R43R;DTNA:NM_001198944:exon3:c.G129A:p.R43R;DTNA:NM_001391:exon10:c.G1092A:p.R364R;DTNA:NM_032981:exon3:c.G129A:p.R43R;DTNA:NM_001128175:exon11:c.G1083A:p.R361R;DTNA:NM_001198940:exon11:c.G1083A:p.R361R;DTNA:NM_001198939:exon11:c.G1083A:p.R361R;DTNA:NM_001198941:exon10:c.G1083A:p.R361R;DTNA:NM_032980:exon3:c.G129A:p.R43R;DTNA:NM_032975:exon12:c.G1092A:p.R364R;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.G1083A:p.R361R;ENSG00000134769:ENST00000399097:exon11:c.G129A:p.R43R;ENSG00000134769:ENST00000598334:exon11:c.G1083A:p.R361R;ENSG00000134769:ENST00000595022:exon11:c.G1083A:p.R361R;ENSG00000134769:ENST00000444659:exon10:c.G1092A:p.R364R;ENSG00000134769:ENST00000269191:exon10:c.G1092A:p.R364R;ENSG00000134769:ENST00000283365:exon12:c.G1092A:p.R364R;ENSG00000134769:ENST00000399113:exon10:c.G1092A:p.R364R;ENSG00000134769:ENST00000599844:exon3:c.G129A:p.R43R;ENSG00000134769:ENST00000556414:exon3:c.G129A:p.R43R;ENSG00000134769:ENST00000269190:exon13:c.G1095A:p.R365R;ENSG00000134769:ENST00000399121:exon11:c.G1083A:p.R361R;ENSG00000134769:ENST00000587723:exon2:c.G60A:p.R20R;ENSG00000134769:ENST00000269192:exon3:c.G129A:p.R43R;ENSG00000134769:ENST00000597599:exon10:c.G1083A:p.R361R;ENSG00000134769:ENST00000554864:exon11:c.G1083A:p.R361R;ENSG00000134769:ENST00000597674:exon3:c.G129A:p.R43R;ENSG00000134769:ENST00000591182:exon3:c.G129A:p.R43R;ENSG00000134769:ENST00000598774:exon11:c.G1092A:p.R364R;ENSG00000134769:ENST00000315456:exon12:c.G1092A:p.R364R;ENSG00000134769:ENST00000598142:exon11:c.G1092A:p.R364R;ENSG00000134769:ENST00000601125:exon3:c.G129A:p.R43R;	0.00971738227701853	0.156
18	32407638	G	C	18	34827674	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.G1092C:p.R364S;DTNA:NM_001392:exon12:c.G1092C:p.R364S;DTNA:NM_032978:exon10:c.G1083C:p.R361S;DTNA:NM_001390:exon10:c.G1092C:p.R364S;DTNA:NM_001198938:exon11:c.G1083C:p.R361S;DTNA:NM_001198943:exon3:c.G333C:p.R111S;DTNA:NM_001198942:exon3:c.G129C:p.R43S;DTNA:NM_001198944:exon3:c.G129C:p.R43S;DTNA:NM_001391:exon10:c.G1092C:p.R364S;DTNA:NM_032981:exon3:c.G129C:p.R43S;DTNA:NM_001128175:exon11:c.G1083C:p.R361S;DTNA:NM_001198940:exon11:c.G1083C:p.R361S;DTNA:NM_001198939:exon11:c.G1083C:p.R361S;DTNA:NM_001198941:exon10:c.G1083C:p.R361S;DTNA:NM_032980:exon3:c.G129C:p.R43S;DTNA:NM_032975:exon12:c.G1092C:p.R364S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.G1083C:p.R361S;ENSG00000134769:ENST00000399097:exon11:c.G129C:p.R43S;ENSG00000134769:ENST00000598334:exon11:c.G1083C:p.R361S;ENSG00000134769:ENST00000595022:exon11:c.G1083C:p.R361S;ENSG00000134769:ENST00000444659:exon10:c.G1092C:p.R364S;ENSG00000134769:ENST00000269191:exon10:c.G1092C:p.R364S;ENSG00000134769:ENST00000283365:exon12:c.G1092C:p.R364S;ENSG00000134769:ENST00000399113:exon10:c.G1092C:p.R364S;ENSG00000134769:ENST00000599844:exon3:c.G129C:p.R43S;ENSG00000134769:ENST00000556414:exon3:c.G129C:p.R43S;ENSG00000134769:ENST00000269190:exon13:c.G1095C:p.R365S;ENSG00000134769:ENST00000399121:exon11:c.G1083C:p.R361S;ENSG00000134769:ENST00000587723:exon2:c.G60C:p.R20S;ENSG00000134769:ENST00000269192:exon3:c.G129C:p.R43S;ENSG00000134769:ENST00000597599:exon10:c.G1083C:p.R361S;ENSG00000134769:ENST00000554864:exon11:c.G1083C:p.R361S;ENSG00000134769:ENST00000597674:exon3:c.G129C:p.R43S;ENSG00000134769:ENST00000591182:exon3:c.G129C:p.R43S;ENSG00000134769:ENST00000598774:exon11:c.G1092C:p.R364S;ENSG00000134769:ENST00000315456:exon12:c.G1092C:p.R364S;ENSG00000134769:ENST00000598142:exon11:c.G1092C:p.R364S;ENSG00000134769:ENST00000601125:exon3:c.G129C:p.R43S;	0.383297497720888	0.534
18	32407638	G	T	18	34827674	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.G1092T:p.R364S;DTNA:NM_001392:exon12:c.G1092T:p.R364S;DTNA:NM_032978:exon10:c.G1083T:p.R361S;DTNA:NM_001390:exon10:c.G1092T:p.R364S;DTNA:NM_001198938:exon11:c.G1083T:p.R361S;DTNA:NM_001198943:exon3:c.G333T:p.R111S;DTNA:NM_001198942:exon3:c.G129T:p.R43S;DTNA:NM_001198944:exon3:c.G129T:p.R43S;DTNA:NM_001391:exon10:c.G1092T:p.R364S;DTNA:NM_032981:exon3:c.G129T:p.R43S;DTNA:NM_001128175:exon11:c.G1083T:p.R361S;DTNA:NM_001198940:exon11:c.G1083T:p.R361S;DTNA:NM_001198939:exon11:c.G1083T:p.R361S;DTNA:NM_001198941:exon10:c.G1083T:p.R361S;DTNA:NM_032980:exon3:c.G129T:p.R43S;DTNA:NM_032975:exon12:c.G1092T:p.R364S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.G1083T:p.R361S;ENSG00000134769:ENST00000399097:exon11:c.G129T:p.R43S;ENSG00000134769:ENST00000598334:exon11:c.G1083T:p.R361S;ENSG00000134769:ENST00000595022:exon11:c.G1083T:p.R361S;ENSG00000134769:ENST00000444659:exon10:c.G1092T:p.R364S;ENSG00000134769:ENST00000269191:exon10:c.G1092T:p.R364S;ENSG00000134769:ENST00000283365:exon12:c.G1092T:p.R364S;ENSG00000134769:ENST00000399113:exon10:c.G1092T:p.R364S;ENSG00000134769:ENST00000599844:exon3:c.G129T:p.R43S;ENSG00000134769:ENST00000556414:exon3:c.G129T:p.R43S;ENSG00000134769:ENST00000269190:exon13:c.G1095T:p.R365S;ENSG00000134769:ENST00000399121:exon11:c.G1083T:p.R361S;ENSG00000134769:ENST00000587723:exon2:c.G60T:p.R20S;ENSG00000134769:ENST00000269192:exon3:c.G129T:p.R43S;ENSG00000134769:ENST00000597599:exon10:c.G1083T:p.R361S;ENSG00000134769:ENST00000554864:exon11:c.G1083T:p.R361S;ENSG00000134769:ENST00000597674:exon3:c.G129T:p.R43S;ENSG00000134769:ENST00000591182:exon3:c.G129T:p.R43S;ENSG00000134769:ENST00000598774:exon11:c.G1092T:p.R364S;ENSG00000134769:ENST00000315456:exon12:c.G1092T:p.R364S;ENSG00000134769:ENST00000598142:exon11:c.G1092T:p.R364S;ENSG00000134769:ENST00000601125:exon3:c.G129T:p.R43S;	0.50388752340904	0.54
18	32407639	A	C	18	34827675	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.A1093C:p.S365R;DTNA:NM_001392:exon12:c.A1093C:p.S365R;DTNA:NM_032978:exon10:c.A1084C:p.S362R;DTNA:NM_001390:exon10:c.A1093C:p.S365R;DTNA:NM_001198938:exon11:c.A1084C:p.S362R;DTNA:NM_001198943:exon3:c.A334C:p.S112R;DTNA:NM_001391:exon10:c.A1093C:p.S365R;DTNA:NM_032981:exon3:c.A130C:p.S44R;DTNA:NM_001128175:exon11:c.A1084C:p.S362R;DTNA:NM_001198940:exon11:c.A1084C:p.S362R;DTNA:NM_001198939:exon11:c.A1084C:p.S362R;DTNA:NM_001198941:exon10:c.A1084C:p.S362R;DTNA:NM_032980:exon3:c.A130C:p.S44R;DTNA:NM_032975:exon12:c.A1093C:p.S365R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.A1084C:p.S362R;ENSG00000134769:ENST00000399097:exon11:c.A130C:p.S44R;ENSG00000134769:ENST00000598334:exon11:c.A1084C:p.S362R;ENSG00000134769:ENST00000595022:exon11:c.A1084C:p.S362R;ENSG00000134769:ENST00000444659:exon10:c.A1093C:p.S365R;ENSG00000134769:ENST00000269191:exon10:c.A1093C:p.S365R;ENSG00000134769:ENST00000283365:exon12:c.A1093C:p.S365R;ENSG00000134769:ENST00000399113:exon10:c.A1093C:p.S365R;ENSG00000134769:ENST00000599844:exon3:c.A130C:p.S44R;ENSG00000134769:ENST00000269190:exon13:c.A1096C:p.S366R;ENSG00000134769:ENST00000399121:exon11:c.A1084C:p.S362R;ENSG00000134769:ENST00000587723:exon2:c.A61C:p.S21R;ENSG00000134769:ENST00000597599:exon10:c.A1084C:p.S362R;ENSG00000134769:ENST00000554864:exon11:c.A1084C:p.S362R;ENSG00000134769:ENST00000597674:exon3:c.A130C:p.S44R;ENSG00000134769:ENST00000591182:exon3:c.A130C:p.S44R;ENSG00000134769:ENST00000598774:exon11:c.A1093C:p.S365R;ENSG00000134769:ENST00000315456:exon12:c.A1093C:p.S365R;ENSG00000134769:ENST00000598142:exon11:c.A1093C:p.S365R;ENSG00000134769:ENST00000601125:exon3:c.A130C:p.S44R;	0.968138917359429	0.71
18	32407639	A	G	18	34827675	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.A1093G:p.S365G;DTNA:NM_001392:exon12:c.A1093G:p.S365G;DTNA:NM_032978:exon10:c.A1084G:p.S362G;DTNA:NM_001390:exon10:c.A1093G:p.S365G;DTNA:NM_001198938:exon11:c.A1084G:p.S362G;DTNA:NM_001198943:exon3:c.A334G:p.S112G;DTNA:NM_001198942:exon3:c.A130G:p.R44G;DTNA:NM_001198944:exon3:c.A130G:p.R44G;DTNA:NM_001391:exon10:c.A1093G:p.S365G;DTNA:NM_032981:exon3:c.A130G:p.S44G;DTNA:NM_001128175:exon11:c.A1084G:p.S362G;DTNA:NM_001198940:exon11:c.A1084G:p.S362G;DTNA:NM_001198939:exon11:c.A1084G:p.S362G;DTNA:NM_001198941:exon10:c.A1084G:p.S362G;DTNA:NM_032980:exon3:c.A130G:p.S44G;DTNA:NM_032975:exon12:c.A1093G:p.S365G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.A1084G:p.S362G;ENSG00000134769:ENST00000399097:exon11:c.A130G:p.S44G;ENSG00000134769:ENST00000598334:exon11:c.A1084G:p.S362G;ENSG00000134769:ENST00000595022:exon11:c.A1084G:p.S362G;ENSG00000134769:ENST00000444659:exon10:c.A1093G:p.S365G;ENSG00000134769:ENST00000269191:exon10:c.A1093G:p.S365G;ENSG00000134769:ENST00000283365:exon12:c.A1093G:p.S365G;ENSG00000134769:ENST00000399113:exon10:c.A1093G:p.S365G;ENSG00000134769:ENST00000599844:exon3:c.A130G:p.S44G;ENSG00000134769:ENST00000556414:exon3:c.A130G:p.R44G;ENSG00000134769:ENST00000269190:exon13:c.A1096G:p.S366G;ENSG00000134769:ENST00000399121:exon11:c.A1084G:p.S362G;ENSG00000134769:ENST00000587723:exon2:c.A61G:p.S21G;ENSG00000134769:ENST00000269192:exon3:c.A130G:p.R44G;ENSG00000134769:ENST00000597599:exon10:c.A1084G:p.S362G;ENSG00000134769:ENST00000554864:exon11:c.A1084G:p.S362G;ENSG00000134769:ENST00000597674:exon3:c.A130G:p.S44G;ENSG00000134769:ENST00000591182:exon3:c.A130G:p.S44G;ENSG00000134769:ENST00000598774:exon11:c.A1093G:p.S365G;ENSG00000134769:ENST00000315456:exon12:c.A1093G:p.S365G;ENSG00000134769:ENST00000598142:exon11:c.A1093G:p.S365G;ENSG00000134769:ENST00000601125:exon3:c.A130G:p.S44G;	0.972933727633989	0.856
18	32407639	A	T	18	34827675	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.A1093T:p.S365C;DTNA:NM_001392:exon12:c.A1093T:p.S365C;DTNA:NM_032978:exon10:c.A1084T:p.S362C;DTNA:NM_001390:exon10:c.A1093T:p.S365C;DTNA:NM_001198938:exon11:c.A1084T:p.S362C;DTNA:NM_001198943:exon3:c.A334T:p.S112C;DTNA:NM_001198942:exon3:c.A130T:p.R44W;DTNA:NM_001198944:exon3:c.A130T:p.R44W;DTNA:NM_001391:exon10:c.A1093T:p.S365C;DTNA:NM_032981:exon3:c.A130T:p.S44C;DTNA:NM_001128175:exon11:c.A1084T:p.S362C;DTNA:NM_001198940:exon11:c.A1084T:p.S362C;DTNA:NM_001198939:exon11:c.A1084T:p.S362C;DTNA:NM_001198941:exon10:c.A1084T:p.S362C;DTNA:NM_032980:exon3:c.A130T:p.S44C;DTNA:NM_032975:exon12:c.A1093T:p.S365C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.A1084T:p.S362C;ENSG00000134769:ENST00000399097:exon11:c.A130T:p.S44C;ENSG00000134769:ENST00000598334:exon11:c.A1084T:p.S362C;ENSG00000134769:ENST00000595022:exon11:c.A1084T:p.S362C;ENSG00000134769:ENST00000444659:exon10:c.A1093T:p.S365C;ENSG00000134769:ENST00000269191:exon10:c.A1093T:p.S365C;ENSG00000134769:ENST00000283365:exon12:c.A1093T:p.S365C;ENSG00000134769:ENST00000399113:exon10:c.A1093T:p.S365C;ENSG00000134769:ENST00000599844:exon3:c.A130T:p.S44C;ENSG00000134769:ENST00000556414:exon3:c.A130T:p.R44W;ENSG00000134769:ENST00000269190:exon13:c.A1096T:p.S366C;ENSG00000134769:ENST00000399121:exon11:c.A1084T:p.S362C;ENSG00000134769:ENST00000587723:exon2:c.A61T:p.S21C;ENSG00000134769:ENST00000269192:exon3:c.A130T:p.R44W;ENSG00000134769:ENST00000597599:exon10:c.A1084T:p.S362C;ENSG00000134769:ENST00000554864:exon11:c.A1084T:p.S362C;ENSG00000134769:ENST00000597674:exon3:c.A130T:p.S44C;ENSG00000134769:ENST00000591182:exon3:c.A130T:p.S44C;ENSG00000134769:ENST00000598774:exon11:c.A1093T:p.S365C;ENSG00000134769:ENST00000315456:exon12:c.A1093T:p.S365C;ENSG00000134769:ENST00000598142:exon11:c.A1093T:p.S365C;ENSG00000134769:ENST00000601125:exon3:c.A130T:p.S44C;	0.989947463778866	0.552
18	32407640	G	A	18	34827676	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.G1094A:p.S365N;DTNA:NM_001392:exon12:c.G1094A:p.S365N;DTNA:NM_032978:exon10:c.G1085A:p.S362N;DTNA:NM_001390:exon10:c.G1094A:p.S365N;DTNA:NM_001198938:exon11:c.G1085A:p.S362N;DTNA:NM_001198943:exon3:c.G335A:p.S112N;DTNA:NM_001198942:exon3:c.G131A:p.R44K;DTNA:NM_001198944:exon3:c.G131A:p.R44K;DTNA:NM_001391:exon10:c.G1094A:p.S365N;DTNA:NM_032981:exon3:c.G131A:p.S44N;DTNA:NM_001128175:exon11:c.G1085A:p.S362N;DTNA:NM_001198940:exon11:c.G1085A:p.S362N;DTNA:NM_001198939:exon11:c.G1085A:p.S362N;DTNA:NM_001198941:exon10:c.G1085A:p.S362N;DTNA:NM_032980:exon3:c.G131A:p.S44N;DTNA:NM_032975:exon12:c.G1094A:p.S365N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.G1085A:p.S362N;ENSG00000134769:ENST00000399097:exon11:c.G131A:p.S44N;ENSG00000134769:ENST00000598334:exon11:c.G1085A:p.S362N;ENSG00000134769:ENST00000595022:exon11:c.G1085A:p.S362N;ENSG00000134769:ENST00000444659:exon10:c.G1094A:p.S365N;ENSG00000134769:ENST00000269191:exon10:c.G1094A:p.S365N;ENSG00000134769:ENST00000283365:exon12:c.G1094A:p.S365N;ENSG00000134769:ENST00000399113:exon10:c.G1094A:p.S365N;ENSG00000134769:ENST00000599844:exon3:c.G131A:p.S44N;ENSG00000134769:ENST00000556414:exon3:c.G131A:p.R44K;ENSG00000134769:ENST00000269190:exon13:c.G1097A:p.S366N;ENSG00000134769:ENST00000399121:exon11:c.G1085A:p.S362N;ENSG00000134769:ENST00000587723:exon2:c.G62A:p.S21N;ENSG00000134769:ENST00000269192:exon3:c.G131A:p.R44K;ENSG00000134769:ENST00000597599:exon10:c.G1085A:p.S362N;ENSG00000134769:ENST00000554864:exon11:c.G1085A:p.S362N;ENSG00000134769:ENST00000597674:exon3:c.G131A:p.S44N;ENSG00000134769:ENST00000591182:exon3:c.G131A:p.S44N;ENSG00000134769:ENST00000598774:exon11:c.G1094A:p.S365N;ENSG00000134769:ENST00000315456:exon12:c.G1094A:p.S365N;ENSG00000134769:ENST00000598142:exon11:c.G1094A:p.S365N;ENSG00000134769:ENST00000601125:exon3:c.G131A:p.S44N;	0.999740645963382	0.88
18	32407640	G	C	18	34827676	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.G1094C:p.S365T;DTNA:NM_001392:exon12:c.G1094C:p.S365T;DTNA:NM_032978:exon10:c.G1085C:p.S362T;DTNA:NM_001390:exon10:c.G1094C:p.S365T;DTNA:NM_001198938:exon11:c.G1085C:p.S362T;DTNA:NM_001198943:exon3:c.G335C:p.S112T;DTNA:NM_001198942:exon3:c.G131C:p.R44T;DTNA:NM_001198944:exon3:c.G131C:p.R44T;DTNA:NM_001391:exon10:c.G1094C:p.S365T;DTNA:NM_032981:exon3:c.G131C:p.S44T;DTNA:NM_001128175:exon11:c.G1085C:p.S362T;DTNA:NM_001198940:exon11:c.G1085C:p.S362T;DTNA:NM_001198939:exon11:c.G1085C:p.S362T;DTNA:NM_001198941:exon10:c.G1085C:p.S362T;DTNA:NM_032980:exon3:c.G131C:p.S44T;DTNA:NM_032975:exon12:c.G1094C:p.S365T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.G1085C:p.S362T;ENSG00000134769:ENST00000399097:exon11:c.G131C:p.S44T;ENSG00000134769:ENST00000598334:exon11:c.G1085C:p.S362T;ENSG00000134769:ENST00000595022:exon11:c.G1085C:p.S362T;ENSG00000134769:ENST00000444659:exon10:c.G1094C:p.S365T;ENSG00000134769:ENST00000269191:exon10:c.G1094C:p.S365T;ENSG00000134769:ENST00000283365:exon12:c.G1094C:p.S365T;ENSG00000134769:ENST00000399113:exon10:c.G1094C:p.S365T;ENSG00000134769:ENST00000599844:exon3:c.G131C:p.S44T;ENSG00000134769:ENST00000556414:exon3:c.G131C:p.R44T;ENSG00000134769:ENST00000269190:exon13:c.G1097C:p.S366T;ENSG00000134769:ENST00000399121:exon11:c.G1085C:p.S362T;ENSG00000134769:ENST00000587723:exon2:c.G62C:p.S21T;ENSG00000134769:ENST00000269192:exon3:c.G131C:p.R44T;ENSG00000134769:ENST00000597599:exon10:c.G1085C:p.S362T;ENSG00000134769:ENST00000554864:exon11:c.G1085C:p.S362T;ENSG00000134769:ENST00000597674:exon3:c.G131C:p.S44T;ENSG00000134769:ENST00000591182:exon3:c.G131C:p.S44T;ENSG00000134769:ENST00000598774:exon11:c.G1094C:p.S365T;ENSG00000134769:ENST00000315456:exon12:c.G1094C:p.S365T;ENSG00000134769:ENST00000598142:exon11:c.G1094C:p.S365T;ENSG00000134769:ENST00000601125:exon3:c.G131C:p.S44T;	0.999005273229832	0.888
18	32407640	G	T	18	34827676	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon12:c.G1094T:p.S365I;DTNA:NM_001392:exon12:c.G1094T:p.S365I;DTNA:NM_032978:exon10:c.G1085T:p.S362I;DTNA:NM_001390:exon10:c.G1094T:p.S365I;DTNA:NM_001198938:exon11:c.G1085T:p.S362I;DTNA:NM_001198943:exon3:c.G335T:p.S112I;DTNA:NM_001198942:exon3:c.G131T:p.R44M;DTNA:NM_001198944:exon3:c.G131T:p.R44M;DTNA:NM_001391:exon10:c.G1094T:p.S365I;DTNA:NM_032981:exon3:c.G131T:p.S44I;DTNA:NM_001128175:exon11:c.G1085T:p.S362I;DTNA:NM_001198940:exon11:c.G1085T:p.S362I;DTNA:NM_001198939:exon11:c.G1085T:p.S362I;DTNA:NM_001198941:exon10:c.G1085T:p.S362I;DTNA:NM_032980:exon3:c.G131T:p.S44I;DTNA:NM_032975:exon12:c.G1094T:p.S365I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon10:c.G1085T:p.S362I;ENSG00000134769:ENST00000399097:exon11:c.G131T:p.S44I;ENSG00000134769:ENST00000598334:exon11:c.G1085T:p.S362I;ENSG00000134769:ENST00000595022:exon11:c.G1085T:p.S362I;ENSG00000134769:ENST00000444659:exon10:c.G1094T:p.S365I;ENSG00000134769:ENST00000269191:exon10:c.G1094T:p.S365I;ENSG00000134769:ENST00000283365:exon12:c.G1094T:p.S365I;ENSG00000134769:ENST00000399113:exon10:c.G1094T:p.S365I;ENSG00000134769:ENST00000599844:exon3:c.G131T:p.S44I;ENSG00000134769:ENST00000556414:exon3:c.G131T:p.R44M;ENSG00000134769:ENST00000269190:exon13:c.G1097T:p.S366I;ENSG00000134769:ENST00000399121:exon11:c.G1085T:p.S362I;ENSG00000134769:ENST00000587723:exon2:c.G62T:p.S21I;ENSG00000134769:ENST00000269192:exon3:c.G131T:p.R44M;ENSG00000134769:ENST00000597599:exon10:c.G1085T:p.S362I;ENSG00000134769:ENST00000554864:exon11:c.G1085T:p.S362I;ENSG00000134769:ENST00000597674:exon3:c.G131T:p.S44I;ENSG00000134769:ENST00000591182:exon3:c.G131T:p.S44I;ENSG00000134769:ENST00000598774:exon11:c.G1094T:p.S365I;ENSG00000134769:ENST00000315456:exon12:c.G1094T:p.S365I;ENSG00000134769:ENST00000598142:exon11:c.G1094T:p.S365I;ENSG00000134769:ENST00000601125:exon3:c.G131T:p.S44I;	0.99964399251799	0.85
18	32407641	G	A	18	34827677	y	y	splicing	DTNA(NM_001392:exon12:c.1094+1G>A;NM_032975:exon12:c.1094+1G>A;NM_032979:exon12:c.1094+1G>A;NM_001198940:exon11:c.1085+1G>A;NM_001198939:exon11:c.1085+1G>A;NM_001198938:exon11:c.1085+1G>A;NM_001128175:exon11:c.1085+1G>A;NM_001198941:exon10:c.1085+1G>A;NM_032978:exon10:c.1085+1G>A;NM_001391:exon10:c.1094+1G>A;NM_001390:exon10:c.1094+1G>A;NM_001198943:exon3:c.335+1G>A;NM_001198944:exon3:c.131+1G>A;NM_001198942:exon3:c.131+1G>A;NM_032981:exon3:c.131+1G>A;NM_032980:exon3:c.131+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1094+1G>A;ENST00000315456:exon12:c.1094+1G>A;ENST00000598334:exon11:c.1085+1G>A;ENST00000399121:exon11:c.1085+1G>A;ENST00000554864:exon11:c.1085+1G>A;ENST00000399097:exon11:c.131+1G>A;ENST00000269190:exon13:c.1097+1G>A;ENST00000595022:exon11:c.1085+1G>A;ENST00000598142:exon11:c.1094+1G>A;ENST00000598774:exon11:c.1094+1G>A;ENST00000348997:exon10:c.1085+1G>A;ENST00000597599:exon10:c.1085+1G>A;ENST00000269191:exon10:c.1094+1G>A;ENST00000444659:exon10:c.1094+1G>A;ENST00000399113:exon10:c.1094+1G>A;ENST00000601125:exon3:c.131+1G>A;ENST00000269192:exon3:c.131+1G>A;ENST00000591182:exon3:c.131+1G>A;ENST00000556414:exon3:c.131+1G>A;ENST00000597674:exon3:c.131+1G>A;ENST00000599844:exon3:c.131+1G>A;ENST00000587723:exon2:c.62+1G>A)	.	.	0.999990361384395	0.938
18	32407641	G	C	18	34827677	y	y	splicing	DTNA(NM_001392:exon12:c.1094+1G>C;NM_032975:exon12:c.1094+1G>C;NM_032979:exon12:c.1094+1G>C;NM_001198940:exon11:c.1085+1G>C;NM_001198939:exon11:c.1085+1G>C;NM_001198938:exon11:c.1085+1G>C;NM_001128175:exon11:c.1085+1G>C;NM_001198941:exon10:c.1085+1G>C;NM_032978:exon10:c.1085+1G>C;NM_001391:exon10:c.1094+1G>C;NM_001390:exon10:c.1094+1G>C;NM_001198943:exon3:c.335+1G>C;NM_001198944:exon3:c.131+1G>C;NM_001198942:exon3:c.131+1G>C;NM_032981:exon3:c.131+1G>C;NM_032980:exon3:c.131+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1094+1G>C;ENST00000315456:exon12:c.1094+1G>C;ENST00000598334:exon11:c.1085+1G>C;ENST00000399121:exon11:c.1085+1G>C;ENST00000554864:exon11:c.1085+1G>C;ENST00000399097:exon11:c.131+1G>C;ENST00000269190:exon13:c.1097+1G>C;ENST00000595022:exon11:c.1085+1G>C;ENST00000598142:exon11:c.1094+1G>C;ENST00000598774:exon11:c.1094+1G>C;ENST00000348997:exon10:c.1085+1G>C;ENST00000597599:exon10:c.1085+1G>C;ENST00000269191:exon10:c.1094+1G>C;ENST00000444659:exon10:c.1094+1G>C;ENST00000399113:exon10:c.1094+1G>C;ENST00000601125:exon3:c.131+1G>C;ENST00000269192:exon3:c.131+1G>C;ENST00000591182:exon3:c.131+1G>C;ENST00000556414:exon3:c.131+1G>C;ENST00000597674:exon3:c.131+1G>C;ENST00000599844:exon3:c.131+1G>C;ENST00000587723:exon2:c.62+1G>C)	.	.	0.999990361384395	0.938
18	32407641	G	T	18	34827677	y	y	splicing	DTNA(NM_001392:exon12:c.1094+1G>T;NM_032975:exon12:c.1094+1G>T;NM_032979:exon12:c.1094+1G>T;NM_001198940:exon11:c.1085+1G>T;NM_001198939:exon11:c.1085+1G>T;NM_001198938:exon11:c.1085+1G>T;NM_001128175:exon11:c.1085+1G>T;NM_001198941:exon10:c.1085+1G>T;NM_032978:exon10:c.1085+1G>T;NM_001391:exon10:c.1094+1G>T;NM_001390:exon10:c.1094+1G>T;NM_001198943:exon3:c.335+1G>T;NM_001198944:exon3:c.131+1G>T;NM_001198942:exon3:c.131+1G>T;NM_032981:exon3:c.131+1G>T;NM_032980:exon3:c.131+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1094+1G>T;ENST00000315456:exon12:c.1094+1G>T;ENST00000598334:exon11:c.1085+1G>T;ENST00000399121:exon11:c.1085+1G>T;ENST00000554864:exon11:c.1085+1G>T;ENST00000399097:exon11:c.131+1G>T;ENST00000269190:exon13:c.1097+1G>T;ENST00000595022:exon11:c.1085+1G>T;ENST00000598142:exon11:c.1094+1G>T;ENST00000598774:exon11:c.1094+1G>T;ENST00000348997:exon10:c.1085+1G>T;ENST00000597599:exon10:c.1085+1G>T;ENST00000269191:exon10:c.1094+1G>T;ENST00000444659:exon10:c.1094+1G>T;ENST00000399113:exon10:c.1094+1G>T;ENST00000601125:exon3:c.131+1G>T;ENST00000269192:exon3:c.131+1G>T;ENST00000591182:exon3:c.131+1G>T;ENST00000556414:exon3:c.131+1G>T;ENST00000597674:exon3:c.131+1G>T;ENST00000599844:exon3:c.131+1G>T;ENST00000587723:exon2:c.62+1G>T)	.	.	0.999990361384395	0.938
18	32407642	T	A	18	34827678	y	y	splicing	DTNA(NM_001392:exon12:c.1094+2T>A;NM_032975:exon12:c.1094+2T>A;NM_032979:exon12:c.1094+2T>A;NM_001198940:exon11:c.1085+2T>A;NM_001198939:exon11:c.1085+2T>A;NM_001198938:exon11:c.1085+2T>A;NM_001128175:exon11:c.1085+2T>A;NM_001198941:exon10:c.1085+2T>A;NM_032978:exon10:c.1085+2T>A;NM_001391:exon10:c.1094+2T>A;NM_001390:exon10:c.1094+2T>A;NM_001198943:exon3:c.335+2T>A;NM_001198944:exon3:c.131+2T>A;NM_001198942:exon3:c.131+2T>A;NM_032981:exon3:c.131+2T>A;NM_032980:exon3:c.131+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1094+2T>A;ENST00000315456:exon12:c.1094+2T>A;ENST00000598334:exon11:c.1085+2T>A;ENST00000399121:exon11:c.1085+2T>A;ENST00000554864:exon11:c.1085+2T>A;ENST00000399097:exon11:c.131+2T>A;ENST00000269190:exon13:c.1097+2T>A;ENST00000595022:exon11:c.1085+2T>A;ENST00000598142:exon11:c.1094+2T>A;ENST00000598774:exon11:c.1094+2T>A;ENST00000348997:exon10:c.1085+2T>A;ENST00000597599:exon10:c.1085+2T>A;ENST00000269191:exon10:c.1094+2T>A;ENST00000444659:exon10:c.1094+2T>A;ENST00000399113:exon10:c.1094+2T>A;ENST00000601125:exon3:c.131+2T>A;ENST00000269192:exon3:c.131+2T>A;ENST00000591182:exon3:c.131+2T>A;ENST00000556414:exon3:c.131+2T>A;ENST00000597674:exon3:c.131+2T>A;ENST00000599844:exon3:c.131+2T>A;ENST00000587723:exon2:c.62+2T>A)	.	.	0.999988247793601	0.93
18	32407642	T	C	18	34827678	y	y	splicing	DTNA(NM_001392:exon12:c.1094+2T>C;NM_032975:exon12:c.1094+2T>C;NM_032979:exon12:c.1094+2T>C;NM_001198940:exon11:c.1085+2T>C;NM_001198939:exon11:c.1085+2T>C;NM_001198938:exon11:c.1085+2T>C;NM_001128175:exon11:c.1085+2T>C;NM_001198941:exon10:c.1085+2T>C;NM_032978:exon10:c.1085+2T>C;NM_001391:exon10:c.1094+2T>C;NM_001390:exon10:c.1094+2T>C;NM_001198943:exon3:c.335+2T>C;NM_001198944:exon3:c.131+2T>C;NM_001198942:exon3:c.131+2T>C;NM_032981:exon3:c.131+2T>C;NM_032980:exon3:c.131+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1094+2T>C;ENST00000315456:exon12:c.1094+2T>C;ENST00000598334:exon11:c.1085+2T>C;ENST00000399121:exon11:c.1085+2T>C;ENST00000554864:exon11:c.1085+2T>C;ENST00000399097:exon11:c.131+2T>C;ENST00000269190:exon13:c.1097+2T>C;ENST00000595022:exon11:c.1085+2T>C;ENST00000598142:exon11:c.1094+2T>C;ENST00000598774:exon11:c.1094+2T>C;ENST00000348997:exon10:c.1085+2T>C;ENST00000597599:exon10:c.1085+2T>C;ENST00000269191:exon10:c.1094+2T>C;ENST00000444659:exon10:c.1094+2T>C;ENST00000399113:exon10:c.1094+2T>C;ENST00000601125:exon3:c.131+2T>C;ENST00000269192:exon3:c.131+2T>C;ENST00000591182:exon3:c.131+2T>C;ENST00000556414:exon3:c.131+2T>C;ENST00000597674:exon3:c.131+2T>C;ENST00000599844:exon3:c.131+2T>C;ENST00000587723:exon2:c.62+2T>C)	.	.	0.996046924575706	0.73
18	32407642	T	G	18	34827678	y	y	splicing	DTNA(NM_001392:exon12:c.1094+2T>G;NM_032975:exon12:c.1094+2T>G;NM_032979:exon12:c.1094+2T>G;NM_001198940:exon11:c.1085+2T>G;NM_001198939:exon11:c.1085+2T>G;NM_001198938:exon11:c.1085+2T>G;NM_001128175:exon11:c.1085+2T>G;NM_001198941:exon10:c.1085+2T>G;NM_032978:exon10:c.1085+2T>G;NM_001391:exon10:c.1094+2T>G;NM_001390:exon10:c.1094+2T>G;NM_001198943:exon3:c.335+2T>G;NM_001198944:exon3:c.131+2T>G;NM_001198942:exon3:c.131+2T>G;NM_032981:exon3:c.131+2T>G;NM_032980:exon3:c.131+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon12:c.1094+2T>G;ENST00000315456:exon12:c.1094+2T>G;ENST00000598334:exon11:c.1085+2T>G;ENST00000399121:exon11:c.1085+2T>G;ENST00000554864:exon11:c.1085+2T>G;ENST00000399097:exon11:c.131+2T>G;ENST00000269190:exon13:c.1097+2T>G;ENST00000595022:exon11:c.1085+2T>G;ENST00000598142:exon11:c.1094+2T>G;ENST00000598774:exon11:c.1094+2T>G;ENST00000348997:exon10:c.1085+2T>G;ENST00000597599:exon10:c.1085+2T>G;ENST00000269191:exon10:c.1094+2T>G;ENST00000444659:exon10:c.1094+2T>G;ENST00000399113:exon10:c.1094+2T>G;ENST00000601125:exon3:c.131+2T>G;ENST00000269192:exon3:c.131+2T>G;ENST00000591182:exon3:c.131+2T>G;ENST00000556414:exon3:c.131+2T>G;ENST00000597674:exon3:c.131+2T>G;ENST00000599844:exon3:c.131+2T>G;ENST00000587723:exon2:c.62+2T>G)	.	.	0.999988247793601	0.93
18	32407643	A	C	18	34827679	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.959922616237461	0.738
18	32407643	A	G	18	34827679	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0329955216489995	0.202
18	32407643	A	T	18	34827679	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.855250861302987	0.692
18	32407644	A	C	18	34827680	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.980949079619591	0.84
18	32407644	A	G	18	34827680	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.994704096522324	0.864
18	32407644	A	T	18	34827680	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.965336825828362	0.84
18	32407645	G	A	18	34827681	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999825512021573	0.876
18	32407645	G	C	18	34827681	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99935854236806	0.812
18	32407645	G	T	18	34827681	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999584847983761	0.782
18	32407646	T	A	18	34827682	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0578319077905259	0.404
18	32407646	T	C	18	34827682	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.100884971672567	0.352
18	32407646	T	G	18	34827682	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0360265999970735	0.234
18	32407647	T	A	18	34827683	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.4518697930878E-5	0.002
18	32407647	T	C	18	34827683	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.69226788282856E-4	0.006
18	32407647	T	G	18	34827683	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.05499324916919E-5	0.0
18	32407648	C	A	18	34827684	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.65406329447109E-4	0.038
18	32407648	C	G	18	34827684	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.54227438820315E-4	0.028
18	32407648	C	T	18	34827684	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.65406329447109E-4	0.026
18	32408993	A	C	18	34829029	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.939232025476621	0.846
18	32408993	A	G	18	34829029	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.939232025476621	0.846
18	32408993	A	T	18	34829029	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.939232025476621	0.848
18	32408994	T	A	18	34829030	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.945209598566082	0.834
18	32408994	T	C	18	34829030	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.946044548412779	0.812
18	32408994	T	G	18	34829030	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.946044548412779	0.82
18	32408995	A	C	18	34829031	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.945209598566082	0.838
18	32408995	A	G	18	34829031	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.945209598566082	0.838
18	32408995	A	T	18	34829031	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.930322189496884	0.84
18	32408996	T	A	18	34829032	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.945209598566082	0.838
18	32408996	T	C	18	34829032	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.945209598566082	0.822
18	32408996	T	G	18	34829032	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.945209598566082	0.824
18	32408997	C	A	18	34829033	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.042740114834783	0.088
18	32408997	C	G	18	34829033	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.042740114834783	0.084
18	32408997	C	T	18	34829033	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.064779472259659	0.106
18	32408998	A	C	18	34829034	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.231199432653511	0.426
18	32408998	A	G	18	34829034	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.231199432653511	0.426
18	32408998	A	T	18	34829034	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.475640668880823	0.522
18	32408999	T	A	18	34829035	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0166553619860984	0.092
18	32408999	T	C	18	34829035	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0122880875428738	0.036
18	32408999	T	G	18	34829035	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0122880875428738	0.036
18	32409000	T	A	18	34829036	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0268814067579567	0.094
18	32409000	T	C	18	34829036	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0198869452768489	0.042
18	32409000	T	G	18	34829036	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0198869452768489	0.044
18	32409001	T	A	18	34829037	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.231199432653511	0.324
18	32409001	T	C	18	34829037	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0321157778440958	0.162
18	32409001	T	G	18	34829037	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0321157778440958	0.166
18	32409002	C	A	18	34829038	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.042740114834783	0.086
18	32409002	C	G	18	34829038	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0410793819238282	0.078
18	32409002	C	T	18	34829038	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.042740114834783	0.084
18	32409003	A	C	18	34829039	y	y	splicing	DTNA(NM_001392:exon13:c.1095-2A>C;NM_001128175:exon12:c.1086-2A>C)	.	.	splicing	ENSG00000134769(ENST00000315456:exon13:c.1095-2A>C;ENST00000554864:exon12:c.1086-2A>C)	.	.	0.93283549970571	0.776
18	32409003	A	G	18	34829039	y	y	splicing	DTNA(NM_001392:exon13:c.1095-2A>G;NM_001128175:exon12:c.1086-2A>G)	.	.	splicing	ENSG00000134769(ENST00000315456:exon13:c.1095-2A>G;ENST00000554864:exon12:c.1086-2A>G)	.	.	0.93283549970571	0.78
18	32409003	A	T	18	34829039	y	y	splicing	DTNA(NM_001392:exon13:c.1095-2A>T;NM_001128175:exon12:c.1086-2A>T)	.	.	splicing	ENSG00000134769(ENST00000315456:exon13:c.1095-2A>T;ENST00000554864:exon12:c.1086-2A>T)	.	.	0.93283549970571	0.782
18	32409004	G	A	18	34829040	y	y	splicing	DTNA(NM_001392:exon13:c.1095-1G>A;NM_001128175:exon12:c.1086-1G>A)	.	.	splicing	ENSG00000134769(ENST00000315456:exon13:c.1095-1G>A;ENST00000554864:exon12:c.1086-1G>A)	.	.	0.993733916693694	0.862
18	32409004	G	C	18	34829040	y	y	splicing	DTNA(NM_001392:exon13:c.1095-1G>C;NM_001128175:exon12:c.1086-1G>C)	.	.	splicing	ENSG00000134769(ENST00000315456:exon13:c.1095-1G>C;ENST00000554864:exon12:c.1086-1G>C)	.	.	0.993733916693694	0.866
18	32409004	G	T	18	34829040	y	y	splicing	DTNA(NM_001392:exon13:c.1095-1G>T;NM_001128175:exon12:c.1086-1G>T)	.	.	splicing	ENSG00000134769(ENST00000315456:exon13:c.1095-1G>T;ENST00000554864:exon12:c.1086-1G>T)	.	.	0.993733916693694	0.864
18	32409005	C	A	18	34829041	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001392:exon13:c.C1095A:p.S365R;DTNA:NM_001128175:exon12:c.C1086A:p.S362R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000554864:exon12:c.C1086A:p.S362R;ENSG00000134769:ENST00000315456:exon13:c.C1095A:p.S365R;	0.923645538223766	0.684
18	32409005	C	G	18	34829041	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001392:exon13:c.C1095G:p.S365R;DTNA:NM_001128175:exon12:c.C1086G:p.S362R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000554864:exon12:c.C1086G:p.S362R;ENSG00000134769:ENST00000315456:exon13:c.C1095G:p.S365R;	0.793118250434253	0.7
18	32409005	C	T	18	34829041	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001392:exon13:c.C1095T:p.S365S;DTNA:NM_001128175:exon12:c.C1086T:p.S362S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000554864:exon12:c.C1086T:p.S362S;ENSG00000134769:ENST00000315456:exon13:c.C1095T:p.S365S;	0.042740114834783	0.084
18	32409006	T	A	18	34829042	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001392:exon13:c.T1096A:p.S366T;DTNA:NM_001128175:exon12:c.T1087A:p.S363T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000554864:exon12:c.T1087A:p.S363T;ENSG00000134769:ENST00000315456:exon13:c.T1096A:p.S366T;	0.0198869452768489	0.04
18	32409006	T	C	18	34829042	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001392:exon13:c.T1096C:p.S366P;DTNA:NM_001128175:exon12:c.T1087C:p.S363P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000554864:exon12:c.T1087C:p.S363P;ENSG00000134769:ENST00000315456:exon13:c.T1096C:p.S366P;	0.231199432653511	0.426
18	32409006	T	G	18	34829042	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001392:exon13:c.T1096G:p.S366A;DTNA:NM_001128175:exon12:c.T1087G:p.S363A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000554864:exon12:c.T1087G:p.S363A;ENSG00000134769:ENST00000315456:exon13:c.T1096G:p.S366A;	0.00481517939330425	0.028
18	32409352	T	A	18	34829388	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.936299306359579	0.864
18	32409352	T	C	18	34829388	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.926992897326703	0.856
18	32409352	T	G	18	34829388	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.926992897326703	0.856
18	32409353	G	A	18	34829389	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.45537279992041	0.582
18	32409353	G	C	18	34829389	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.45611331169849	0.59
18	32409353	G	T	18	34829389	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.45537279992041	0.586
18	32409354	A	C	18	34829390	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.00052188213206E-4	0.126
18	32409354	A	G	18	34829390	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.00052188213206E-4	0.126
18	32409354	A	T	18	34829390	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.10795487091317E-5	0.116
18	32409355	C	A	18	34829391	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.25690374419159E-4	0.09
18	32409355	C	G	18	34829391	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.25690374419159E-4	0.098
18	32409355	C	T	18	34829391	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.14418775914876E-4	0.086
18	32409356	T	A	18	34829392	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.43726074783461E-5	0.0
18	32409356	T	C	18	34829392	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.43726074783461E-5	0.0
18	32409356	T	G	18	34829392	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.43726074783461E-5	0.0
18	32409357	C	A	18	34829393	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00108816074743402	0.024
18	32409357	C	G	18	34829393	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00108816074743402	0.05
18	32409357	C	T	18	34829393	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.62608653902118E-4	0.032
18	32409358	C	A	18	34829394	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.13525427240629E-4	0.056
18	32409358	C	G	18	34829394	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.14672929555974E-4	0.054
18	32409358	C	T	18	34829394	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.13525427240629E-4	0.07
18	32409359	C	A	18	34829395	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0243156145864903	0.084
18	32409359	C	G	18	34829395	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0243156145864903	0.086
18	32409359	C	T	18	34829395	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0410793819238282	0.08
18	32409360	T	A	18	34829396	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.15838005414123E-4	0.002
18	32409360	T	C	18	34829396	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.15838005414123E-4	0.006
18	32409360	T	G	18	34829396	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.15838005414123E-4	0.006
18	32409361	C	A	18	34829397	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0055608710731827	0.042
18	32409361	C	G	18	34829397	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00409062928811631	0.038
18	32409361	C	T	18	34829397	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0055608710731827	0.07
18	32409362	A	C	18	34829398	y	y	splicing	DTNA(NM_001198944:exon4:c.132-2A>C;NM_001198942:exon4:c.132-2A>C)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.132-2A>C;ENST00000556414:exon4:c.132-2A>C)	.	.	0.0396071572689364	0.206
18	32409362	A	G	18	34829398	y	y	splicing	DTNA(NM_001198944:exon4:c.132-2A>G;NM_001198942:exon4:c.132-2A>G)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.132-2A>G;ENST00000556414:exon4:c.132-2A>G)	.	.	0.0396071572689364	0.206
18	32409362	A	T	18	34829398	y	y	splicing	DTNA(NM_001198944:exon4:c.132-2A>T;NM_001198942:exon4:c.132-2A>T)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.132-2A>T;ENST00000556414:exon4:c.132-2A>T)	.	.	0.0396071572689364	0.208
18	32409363	G	A	18	34829399	y	y	splicing	DTNA(NM_001198944:exon4:c.132-1G>A;NM_001198942:exon4:c.132-1G>A)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.132-1G>A;ENST00000556414:exon4:c.132-1G>A)	.	.	0.994463269283841	0.924
18	32409363	G	C	18	34829399	y	y	splicing	DTNA(NM_001198944:exon4:c.132-1G>C;NM_001198942:exon4:c.132-1G>C)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.132-1G>C;ENST00000556414:exon4:c.132-1G>C)	.	.	0.995030058536757	0.898
18	32409363	G	T	18	34829399	y	y	splicing	DTNA(NM_001198944:exon4:c.132-1G>T;NM_001198942:exon4:c.132-1G>T)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.132-1G>T;ENST00000556414:exon4:c.132-1G>T)	.	.	0.995030058536757	0.92
18	32409364	G	A	18	34829400	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001198942:exon4:c.G132A:p.R44R;DTNA:NM_001198944:exon4:c.G132A:p.R44R;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.G132A:p.R44R;ENSG00000134769:ENST00000269192:exon4:c.G132A:p.R44R;	0.0829303037423624	0.326
18	32409364	G	C	18	34829400	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.G132C:p.R44S;DTNA:NM_001198944:exon4:c.G132C:p.R44S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.G132C:p.R44S;ENSG00000134769:ENST00000269192:exon4:c.G132C:p.R44S;	3.95486020593059E-4	0.014
18	32409364	G	T	18	34829400	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.G132T:p.R44S;DTNA:NM_001198944:exon4:c.G132T:p.R44S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.G132T:p.R44S;ENSG00000134769:ENST00000269192:exon4:c.G132T:p.R44S;	7.33510361847212E-4	0.014
18	32409365	T	A	18	34829401	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.T133A:p.L45I;DTNA:NM_001198944:exon4:c.T133A:p.L45I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.T133A:p.L45I;ENSG00000134769:ENST00000269192:exon4:c.T133A:p.L45I;	0.92961721136914	0.814
18	32409365	T	C	18	34829401	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001198942:exon4:c.T133C:p.L45L;DTNA:NM_001198944:exon4:c.T133C:p.L45L;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.T133C:p.L45L;ENSG00000134769:ENST00000269192:exon4:c.T133C:p.L45L;	0.726702597113684	0.72
18	32409365	T	G	18	34829401	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.T133G:p.L45V;DTNA:NM_001198944:exon4:c.T133G:p.L45V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.T133G:p.L45V;ENSG00000134769:ENST00000269192:exon4:c.T133G:p.L45V;	0.0305896901318045	0.164
18	32409451	A	C	18	34829487	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001198942:exon4:c.A219C:p.A73A;DTNA:NM_001198944:exon4:c.A219C:p.A73A;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.A219C:p.A73A;ENSG00000134769:ENST00000269192:exon4:c.A219C:p.A73A;	0.0069180409540431	0.056
18	32409451	A	G	18	34829487	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001198942:exon4:c.A219G:p.A73A;DTNA:NM_001198944:exon4:c.A219G:p.A73A;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.A219G:p.A73A;ENSG00000134769:ENST00000269192:exon4:c.A219G:p.A73A;	0.0069180409540431	0.056
18	32409451	A	T	18	34829487	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001198942:exon4:c.A219T:p.A73A;DTNA:NM_001198944:exon4:c.A219T:p.A73A;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.A219T:p.A73A;ENSG00000134769:ENST00000269192:exon4:c.A219T:p.A73A;	0.0100637101069719	0.104
18	32409452	C	A	18	34829488	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.C220A:p.R74S;DTNA:NM_001198944:exon4:c.C220A:p.R74S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.C220A:p.R74S;ENSG00000134769:ENST00000269192:exon4:c.C220A:p.R74S;	3.71098141498868E-4	0.012
18	32409452	C	G	18	34829488	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.C220G:p.R74G;DTNA:NM_001198944:exon4:c.C220G:p.R74G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.C220G:p.R74G;ENSG00000134769:ENST00000269192:exon4:c.C220G:p.R74G;	1.66802757202875E-4	0.0
18	32409452	C	T	18	34829488	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.C220T:p.R74C;DTNA:NM_001198944:exon4:c.C220T:p.R74C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.C220T:p.R74C;ENSG00000134769:ENST00000269192:exon4:c.C220T:p.R74C;	2.55686670452683E-4	0.152
18	32409453	G	A	18	34829489	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.G221A:p.R74H;DTNA:NM_001198944:exon4:c.G221A:p.R74H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.G221A:p.R74H;ENSG00000134769:ENST00000269192:exon4:c.G221A:p.R74H;	0.478618530915245	0.636
18	32409453	G	C	18	34829489	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.G221C:p.R74P;DTNA:NM_001198944:exon4:c.G221C:p.R74P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.G221C:p.R74P;ENSG00000134769:ENST00000269192:exon4:c.G221C:p.R74P;	0.0278602158370864	0.184
18	32409453	G	T	18	34829489	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198942:exon4:c.G221T:p.R74L;DTNA:NM_001198944:exon4:c.G221T:p.R74L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000556414:exon4:c.G221T:p.R74L;ENSG00000134769:ENST00000269192:exon4:c.G221T:p.R74L;	0.45611331169849	0.608
18	32409454	G	A	18	34829490	y	y	splicing	DTNA(NM_001198944:exon4:c.221+1G>A;NM_001198942:exon4:c.221+1G>A)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.221+1G>A;ENST00000556414:exon4:c.221+1G>A)	.	.	0.579448161422323	0.596
18	32409454	G	C	18	34829490	y	y	splicing	DTNA(NM_001198944:exon4:c.221+1G>C;NM_001198942:exon4:c.221+1G>C)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.221+1G>C;ENST00000556414:exon4:c.221+1G>C)	.	.	0.45537279992041	0.59
18	32409454	G	T	18	34829490	y	y	splicing	DTNA(NM_001198944:exon4:c.221+1G>T;NM_001198942:exon4:c.221+1G>T)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.221+1G>T;ENST00000556414:exon4:c.221+1G>T)	.	.	0.45537279992041	0.586
18	32409455	T	A	18	34829491	y	y	splicing	DTNA(NM_001198944:exon4:c.221+2T>A;NM_001198942:exon4:c.221+2T>A)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.221+2T>A;ENST00000556414:exon4:c.221+2T>A)	.	.	0.0394937518615641	0.234
18	32409455	T	C	18	34829491	y	y	splicing	DTNA(NM_001198944:exon4:c.221+2T>C;NM_001198942:exon4:c.221+2T>C)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.221+2T>C;ENST00000556414:exon4:c.221+2T>C)	.	.	0.0396071572689364	0.246
18	32409455	T	G	18	34829491	y	y	splicing	DTNA(NM_001198944:exon4:c.221+2T>G;NM_001198942:exon4:c.221+2T>G)	.	.	splicing	ENSG00000134769(ENST00000269192:exon4:c.221+2T>G;ENST00000556414:exon4:c.221+2T>G)	.	.	0.0396071572689364	0.246
18	32409456	C	A	18	34829492	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.876130190174501	0.726
18	32409456	C	G	18	34829492	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.793118250434253	0.588
18	32409456	C	T	18	34829492	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.923645538223766	0.682
18	32409457	A	C	18	34829493	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0122880875428738	0.032
18	32409457	A	G	18	34829493	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0122880875428738	0.032
18	32409457	A	T	18	34829493	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0166553619860984	0.086
18	32409458	G	A	18	34829494	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00261102217652179	0.098
18	32409458	G	C	18	34829494	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00261102217652179	0.068
18	32409458	G	T	18	34829494	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00261102217652179	0.07
18	32409459	T	A	18	34829495	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0122880875428738	0.032
18	32409459	T	C	18	34829495	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00795550234021026	0.022
18	32409459	T	G	18	34829495	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00795550234021026	0.022
18	32409460	A	C	18	34829496	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00661647016076468	0.024
18	32409460	A	G	18	34829496	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00661647016076468	0.024
18	32409460	A	T	18	34829496	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00795550234021026	0.022
18	32409461	T	A	18	34829497	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.51591174045998E-4	0.012
18	32409461	T	C	18	34829497	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.51591174045998E-4	0.008
18	32409461	T	G	18	34829497	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.51591174045998E-4	0.008
18	32418046	C	A	18	34838082	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.978362922468793	0.68
18	32418046	C	G	18	34838082	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.987424362729841	0.706
18	32418046	C	T	18	34838082	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.965414115498749	0.698
18	32418047	T	A	18	34838083	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999954061946485	0.982
18	32418047	T	C	18	34838083	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.989691354014685	0.808
18	32418047	T	G	18	34838083	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999754626461299	0.938
18	32418048	T	A	18	34838084	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999891936377402	0.914
18	32418048	T	C	18	34838084	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.939902561849982	0.526
18	32418048	T	G	18	34838084	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999778827102172	0.944
18	32418049	A	C	18	34838085	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.742113238908388	0.638
18	32418049	A	G	18	34838085	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.939447483936926	0.76
18	32418049	A	T	18	34838085	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.742113238908388	0.596
18	32418050	T	A	18	34838086	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.928488359773202	0.694
18	32418050	T	C	18	34838086	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00798619219036215	0.13
18	32418050	T	G	18	34838086	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999952427576573	0.988
18	32418051	T	A	18	34838087	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997661124220725	0.742
18	32418051	T	C	18	34838087	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.224038989261828	0.302
18	32418051	T	G	18	34838087	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997773689399633	0.724
18	32418052	A	C	18	34838088	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0343776871782749	0.22
18	32418052	A	G	18	34838088	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.16972441584438	0.366
18	32418052	A	T	18	34838088	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0246606007657348	0.24
18	32418053	A	C	18	34838089	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00222557416558236	0.046
18	32418053	A	G	18	34838089	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999350963986442	0.888
18	32418053	A	T	18	34838089	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00420761145401144	0.098
18	32418054	C	A	18	34838090	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00349274605201308	0.12
18	32418054	C	G	18	34838090	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999916766994967	0.906
18	32418054	C	T	18	34838090	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00709994870421364	0.124
18	32418055	T	A	18	34838091	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.556039150004721	0.5
18	32418055	T	C	18	34838091	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.80218903053003E-5	0.006
18	32418055	T	G	18	34838091	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.996597981093403	0.74
18	32418056	A	C	18	34838092	y	y	splicing	DTNA(NM_032978:exon11:c.1086-2A>C;NM_001391:exon11:c.1095-2A>C;NM_001390:exon11:c.1095-2A>C;NM_001198942:exon5:c.222-2A>C;NM_032980:exon4:c.132-2A>C)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.132-2A>C;ENST00000269190:exon14:c.1098-2A>C;ENST00000348997:exon11:c.1086-2A>C;ENST00000269191:exon11:c.1095-2A>C;ENST00000444659:exon11:c.1095-2A>C;ENST00000399113:exon11:c.1095-2A>C;ENST00000269192:exon5:c.222-2A>C;ENST00000591182:exon4:c.132-2A>C)	.	.	0.999990764389106	0.942
18	32418056	A	G	18	34838092	y	y	splicing	DTNA(NM_032978:exon11:c.1086-2A>G;NM_001391:exon11:c.1095-2A>G;NM_001390:exon11:c.1095-2A>G;NM_001198942:exon5:c.222-2A>G;NM_032980:exon4:c.132-2A>G)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.132-2A>G;ENST00000269190:exon14:c.1098-2A>G;ENST00000348997:exon11:c.1086-2A>G;ENST00000269191:exon11:c.1095-2A>G;ENST00000444659:exon11:c.1095-2A>G;ENST00000399113:exon11:c.1095-2A>G;ENST00000269192:exon5:c.222-2A>G;ENST00000591182:exon4:c.132-2A>G)	.	.	0.999990764389106	0.942
18	32418056	A	T	18	34838092	y	y	splicing	DTNA(NM_032978:exon11:c.1086-2A>T;NM_001391:exon11:c.1095-2A>T;NM_001390:exon11:c.1095-2A>T;NM_001198942:exon5:c.222-2A>T;NM_032980:exon4:c.132-2A>T)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.132-2A>T;ENST00000269190:exon14:c.1098-2A>T;ENST00000348997:exon11:c.1086-2A>T;ENST00000269191:exon11:c.1095-2A>T;ENST00000444659:exon11:c.1095-2A>T;ENST00000399113:exon11:c.1095-2A>T;ENST00000269192:exon5:c.222-2A>T;ENST00000591182:exon4:c.132-2A>T)	.	.	0.999990764389106	0.942
18	32418057	G	A	18	34838093	y	y	splicing	DTNA(NM_032978:exon11:c.1086-1G>A;NM_001391:exon11:c.1095-1G>A;NM_001390:exon11:c.1095-1G>A;NM_001198942:exon5:c.222-1G>A;NM_032980:exon4:c.132-1G>A)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.132-1G>A;ENST00000269190:exon14:c.1098-1G>A;ENST00000348997:exon11:c.1086-1G>A;ENST00000269191:exon11:c.1095-1G>A;ENST00000444659:exon11:c.1095-1G>A;ENST00000399113:exon11:c.1095-1G>A;ENST00000269192:exon5:c.222-1G>A;ENST00000591182:exon4:c.132-1G>A)	.	.	0.999992425382947	0.94
18	32418057	G	C	18	34838093	y	y	splicing	DTNA(NM_032978:exon11:c.1086-1G>C;NM_001391:exon11:c.1095-1G>C;NM_001390:exon11:c.1095-1G>C;NM_001198942:exon5:c.222-1G>C;NM_032980:exon4:c.132-1G>C)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.132-1G>C;ENST00000269190:exon14:c.1098-1G>C;ENST00000348997:exon11:c.1086-1G>C;ENST00000269191:exon11:c.1095-1G>C;ENST00000444659:exon11:c.1095-1G>C;ENST00000399113:exon11:c.1095-1G>C;ENST00000269192:exon5:c.222-1G>C;ENST00000591182:exon4:c.132-1G>C)	.	.	0.999992425382947	0.94
18	32418057	G	T	18	34838093	y	y	splicing	DTNA(NM_032978:exon11:c.1086-1G>T;NM_001391:exon11:c.1095-1G>T;NM_001390:exon11:c.1095-1G>T;NM_001198942:exon5:c.222-1G>T;NM_032980:exon4:c.132-1G>T)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.132-1G>T;ENST00000269190:exon14:c.1098-1G>T;ENST00000348997:exon11:c.1086-1G>T;ENST00000269191:exon11:c.1095-1G>T;ENST00000444659:exon11:c.1095-1G>T;ENST00000399113:exon11:c.1095-1G>T;ENST00000269192:exon5:c.222-1G>T;ENST00000591182:exon4:c.132-1G>T)	.	.	0.999992425382947	0.94
18	32418058	C	A	18	34838094	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.C1086A:p.S362R;DTNA:NM_001390:exon11:c.C1095A:p.S365R;DTNA:NM_001391:exon11:c.C1095A:p.S365R;DTNA:NM_032980:exon4:c.C132A:p.S44R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.C1086A:p.S362R;ENSG00000134769:ENST00000399097:exon12:c.C132A:p.S44R;ENSG00000134769:ENST00000444659:exon11:c.C1095A:p.S365R;ENSG00000134769:ENST00000269191:exon11:c.C1095A:p.S365R;ENSG00000134769:ENST00000399113:exon11:c.C1095A:p.S365R;ENSG00000134769:ENST00000269190:exon14:c.C1098A:p.S366R;ENSG00000134769:ENST00000591182:exon4:c.C132A:p.S44R;	0.194397148539055	0.404
18	32418058	C	G	18	34838094	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.C1086G:p.S362R;DTNA:NM_001390:exon11:c.C1095G:p.S365R;DTNA:NM_001391:exon11:c.C1095G:p.S365R;DTNA:NM_032980:exon4:c.C132G:p.S44R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.C1086G:p.S362R;ENSG00000134769:ENST00000399097:exon12:c.C132G:p.S44R;ENSG00000134769:ENST00000444659:exon11:c.C1095G:p.S365R;ENSG00000134769:ENST00000269191:exon11:c.C1095G:p.S365R;ENSG00000134769:ENST00000399113:exon11:c.C1095G:p.S365R;ENSG00000134769:ENST00000269190:exon14:c.C1098G:p.S366R;ENSG00000134769:ENST00000591182:exon4:c.C132G:p.S44R;	0.136005664099034	0.204
18	32418058	C	T	18	34838094	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032978:exon11:c.C1086T:p.S362S;DTNA:NM_001390:exon11:c.C1095T:p.S365S;DTNA:NM_001198942:exon5:c.C222T:p.R74R;DTNA:NM_001391:exon11:c.C1095T:p.S365S;DTNA:NM_032980:exon4:c.C132T:p.S44S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.C1086T:p.S362S;ENSG00000134769:ENST00000399097:exon12:c.C132T:p.S44S;ENSG00000134769:ENST00000444659:exon11:c.C1095T:p.S365S;ENSG00000134769:ENST00000269191:exon11:c.C1095T:p.S365S;ENSG00000134769:ENST00000399113:exon11:c.C1095T:p.S365S;ENSG00000134769:ENST00000269190:exon14:c.C1098T:p.S366S;ENSG00000134769:ENST00000269192:exon5:c.C222T:p.R74R;ENSG00000134769:ENST00000591182:exon4:c.C132T:p.S44S;	0.872079551218082	0.756
18	32418059	T	A	18	34838095	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.T1087A:p.S363T;DTNA:NM_001390:exon11:c.T1096A:p.S366T;DTNA:NM_001198942:exon5:c.T223A:p.S75T;DTNA:NM_001391:exon11:c.T1096A:p.S366T;DTNA:NM_032980:exon4:c.T133A:p.S45T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.T1087A:p.S363T;ENSG00000134769:ENST00000399097:exon12:c.T133A:p.S45T;ENSG00000134769:ENST00000444659:exon11:c.T1096A:p.S366T;ENSG00000134769:ENST00000269191:exon11:c.T1096A:p.S366T;ENSG00000134769:ENST00000399113:exon11:c.T1096A:p.S366T;ENSG00000134769:ENST00000269190:exon14:c.T1099A:p.S367T;ENSG00000134769:ENST00000269192:exon5:c.T223A:p.S75T;ENSG00000134769:ENST00000591182:exon4:c.T133A:p.S45T;	0.00840142257636604	0.088
18	32418059	T	C	18	34838095	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.T1087C:p.S363P;DTNA:NM_001390:exon11:c.T1096C:p.S366P;DTNA:NM_001198942:exon5:c.T223C:p.S75P;DTNA:NM_001391:exon11:c.T1096C:p.S366P;DTNA:NM_032980:exon4:c.T133C:p.S45P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.T1087C:p.S363P;ENSG00000134769:ENST00000399097:exon12:c.T133C:p.S45P;ENSG00000134769:ENST00000444659:exon11:c.T1096C:p.S366P;ENSG00000134769:ENST00000269191:exon11:c.T1096C:p.S366P;ENSG00000134769:ENST00000399113:exon11:c.T1096C:p.S366P;ENSG00000134769:ENST00000269190:exon14:c.T1099C:p.S367P;ENSG00000134769:ENST00000269192:exon5:c.T223C:p.S75P;ENSG00000134769:ENST00000591182:exon4:c.T133C:p.S45P;	0.1043745126038	0.196
18	32418059	T	G	18	34838095	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.T1087G:p.S363A;DTNA:NM_001390:exon11:c.T1096G:p.S366A;DTNA:NM_001198942:exon5:c.T223G:p.S75A;DTNA:NM_001391:exon11:c.T1096G:p.S366A;DTNA:NM_032980:exon4:c.T133G:p.S45A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.T1087G:p.S363A;ENSG00000134769:ENST00000399097:exon12:c.T133G:p.S45A;ENSG00000134769:ENST00000444659:exon11:c.T1096G:p.S366A;ENSG00000134769:ENST00000269191:exon11:c.T1096G:p.S366A;ENSG00000134769:ENST00000399113:exon11:c.T1096G:p.S366A;ENSG00000134769:ENST00000269190:exon14:c.T1099G:p.S367A;ENSG00000134769:ENST00000269192:exon5:c.T223G:p.S75A;ENSG00000134769:ENST00000591182:exon4:c.T133G:p.S45A;	0.00131722690170128	0.084
18	32418133	A	C	18	34838169	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.A1161C:p.K387N;DTNA:NM_001390:exon11:c.A1170C:p.K390N;DTNA:NM_001198942:exon5:c.A297C:p.K99N;DTNA:NM_001391:exon11:c.A1170C:p.K390N;DTNA:NM_032980:exon4:c.A207C:p.K69N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.A1161C:p.K387N;ENSG00000134769:ENST00000399097:exon12:c.A207C:p.K69N;ENSG00000134769:ENST00000444659:exon11:c.A1170C:p.K390N;ENSG00000134769:ENST00000269191:exon11:c.A1170C:p.K390N;ENSG00000134769:ENST00000399113:exon11:c.A1170C:p.K390N;ENSG00000134769:ENST00000269190:exon14:c.A1173C:p.K391N;ENSG00000134769:ENST00000269192:exon5:c.A297C:p.K99N;ENSG00000134769:ENST00000591182:exon4:c.A207C:p.K69N;	0.0604231230746609	0.388
18	32418133	A	G	18	34838169	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032978:exon11:c.A1161G:p.K387K;DTNA:NM_001390:exon11:c.A1170G:p.K390K;DTNA:NM_001198942:exon5:c.A297G:p.K99K;DTNA:NM_001391:exon11:c.A1170G:p.K390K;DTNA:NM_032980:exon4:c.A207G:p.K69K;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.A1161G:p.K387K;ENSG00000134769:ENST00000399097:exon12:c.A207G:p.K69K;ENSG00000134769:ENST00000444659:exon11:c.A1170G:p.K390K;ENSG00000134769:ENST00000269191:exon11:c.A1170G:p.K390K;ENSG00000134769:ENST00000399113:exon11:c.A1170G:p.K390K;ENSG00000134769:ENST00000269190:exon14:c.A1173G:p.K391K;ENSG00000134769:ENST00000269192:exon5:c.A297G:p.K99K;ENSG00000134769:ENST00000591182:exon4:c.A207G:p.K69K;	0.0206873499410562	0.152
18	32418133	A	T	18	34838169	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.A1161T:p.K387N;DTNA:NM_001390:exon11:c.A1170T:p.K390N;DTNA:NM_001198942:exon5:c.A297T:p.K99N;DTNA:NM_001391:exon11:c.A1170T:p.K390N;DTNA:NM_032980:exon4:c.A207T:p.K69N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.A1161T:p.K387N;ENSG00000134769:ENST00000399097:exon12:c.A207T:p.K69N;ENSG00000134769:ENST00000444659:exon11:c.A1170T:p.K390N;ENSG00000134769:ENST00000269191:exon11:c.A1170T:p.K390N;ENSG00000134769:ENST00000399113:exon11:c.A1170T:p.K390N;ENSG00000134769:ENST00000269190:exon14:c.A1173T:p.K391N;ENSG00000134769:ENST00000269192:exon5:c.A297T:p.K99N;ENSG00000134769:ENST00000591182:exon4:c.A207T:p.K69N;	0.868092376407596	0.424
18	32418134	G	A	18	34838170	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.G1162A:p.G388R;DTNA:NM_001390:exon11:c.G1171A:p.G391R;DTNA:NM_001198942:exon5:c.G298A:p.G100R;DTNA:NM_001391:exon11:c.G1171A:p.G391R;DTNA:NM_032980:exon4:c.G208A:p.G70S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.G1162A:p.G388R;ENSG00000134769:ENST00000399097:exon12:c.G208A:p.G70S;ENSG00000134769:ENST00000444659:exon11:c.G1171A:p.G391R;ENSG00000134769:ENST00000269191:exon11:c.G1171A:p.G391R;ENSG00000134769:ENST00000399113:exon11:c.G1171A:p.G391R;ENSG00000134769:ENST00000269190:exon14:c.G1174A:p.G392R;ENSG00000134769:ENST00000269192:exon5:c.G298A:p.G100R;ENSG00000134769:ENST00000591182:exon4:c.G208A:p.G70S;	0.016735845719486	0.072
18	32418134	G	C	18	34838170	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.G1162C:p.G388R;DTNA:NM_001390:exon11:c.G1171C:p.G391R;DTNA:NM_001198942:exon5:c.G298C:p.G100R;DTNA:NM_001391:exon11:c.G1171C:p.G391R;DTNA:NM_032980:exon4:c.G208C:p.G70R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.G1162C:p.G388R;ENSG00000134769:ENST00000399097:exon12:c.G208C:p.G70R;ENSG00000134769:ENST00000444659:exon11:c.G1171C:p.G391R;ENSG00000134769:ENST00000269191:exon11:c.G1171C:p.G391R;ENSG00000134769:ENST00000399113:exon11:c.G1171C:p.G391R;ENSG00000134769:ENST00000269190:exon14:c.G1174C:p.G392R;ENSG00000134769:ENST00000269192:exon5:c.G298C:p.G100R;ENSG00000134769:ENST00000591182:exon4:c.G208C:p.G70R;	0.042740114834783	0.098
18	32418134	G	T	18	34838170	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.G1162T:p.G388W;DTNA:NM_001390:exon11:c.G1171T:p.G391W;DTNA:NM_001198942:exon5:c.G298T:p.G100W;DTNA:NM_001391:exon11:c.G1171T:p.G391W;DTNA:NM_032980:exon4:c.G208T:p.G70C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.G1162T:p.G388W;ENSG00000134769:ENST00000399097:exon12:c.G208T:p.G70C;ENSG00000134769:ENST00000444659:exon11:c.G1171T:p.G391W;ENSG00000134769:ENST00000269191:exon11:c.G1171T:p.G391W;ENSG00000134769:ENST00000399113:exon11:c.G1171T:p.G391W;ENSG00000134769:ENST00000269190:exon14:c.G1174T:p.G392W;ENSG00000134769:ENST00000269192:exon5:c.G298T:p.G100W;ENSG00000134769:ENST00000591182:exon4:c.G208T:p.G70C;	0.991570458026741	0.858
18	32418135	G	A	18	34838171	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.G1163A:p.G388E;DTNA:NM_001390:exon11:c.G1172A:p.G391E;DTNA:NM_001198942:exon5:c.G299A:p.G100E;DTNA:NM_001391:exon11:c.G1172A:p.G391E;DTNA:NM_032980:exon4:c.G209A:p.G70D;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.G1163A:p.G388E;ENSG00000134769:ENST00000399097:exon12:c.G209A:p.G70D;ENSG00000134769:ENST00000444659:exon11:c.G1172A:p.G391E;ENSG00000134769:ENST00000269191:exon11:c.G1172A:p.G391E;ENSG00000134769:ENST00000399113:exon11:c.G1172A:p.G391E;ENSG00000134769:ENST00000269190:exon14:c.G1175A:p.G392E;ENSG00000134769:ENST00000269192:exon5:c.G299A:p.G100E;ENSG00000134769:ENST00000591182:exon4:c.G209A:p.G70D;	0.939944415101376	0.852
18	32418135	G	C	18	34838171	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.G1163C:p.G388A;DTNA:NM_001390:exon11:c.G1172C:p.G391A;DTNA:NM_001198942:exon5:c.G299C:p.G100A;DTNA:NM_001391:exon11:c.G1172C:p.G391A;DTNA:NM_032980:exon4:c.G209C:p.G70A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.G1163C:p.G388A;ENSG00000134769:ENST00000399097:exon12:c.G209C:p.G70A;ENSG00000134769:ENST00000444659:exon11:c.G1172C:p.G391A;ENSG00000134769:ENST00000269191:exon11:c.G1172C:p.G391A;ENSG00000134769:ENST00000399113:exon11:c.G1172C:p.G391A;ENSG00000134769:ENST00000269190:exon14:c.G1175C:p.G392A;ENSG00000134769:ENST00000269192:exon5:c.G299C:p.G100A;ENSG00000134769:ENST00000591182:exon4:c.G209C:p.G70A;	0.628896388050405	0.62
18	32418135	G	T	18	34838171	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon11:c.G1163T:p.G388V;DTNA:NM_001390:exon11:c.G1172T:p.G391V;DTNA:NM_001198942:exon5:c.G299T:p.G100V;DTNA:NM_001391:exon11:c.G1172T:p.G391V;DTNA:NM_032980:exon4:c.G209T:p.G70V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon11:c.G1163T:p.G388V;ENSG00000134769:ENST00000399097:exon12:c.G209T:p.G70V;ENSG00000134769:ENST00000444659:exon11:c.G1172T:p.G391V;ENSG00000134769:ENST00000269191:exon11:c.G1172T:p.G391V;ENSG00000134769:ENST00000399113:exon11:c.G1172T:p.G391V;ENSG00000134769:ENST00000269190:exon14:c.G1175T:p.G392V;ENSG00000134769:ENST00000269192:exon5:c.G299T:p.G100V;ENSG00000134769:ENST00000591182:exon4:c.G209T:p.G70V;	0.994227635231499	0.916
18	32418136	G	A	18	34838172	y	y	splicing	DTNA(NM_032978:exon11:c.1163+1G>A;NM_001391:exon11:c.1172+1G>A;NM_001390:exon11:c.1172+1G>A;NM_001198942:exon5:c.299+1G>A;NM_032980:exon4:c.209+1G>A)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.209+1G>A;ENST00000269190:exon14:c.1175+1G>A;ENST00000348997:exon11:c.1163+1G>A;ENST00000269191:exon11:c.1172+1G>A;ENST00000444659:exon11:c.1172+1G>A;ENST00000399113:exon11:c.1172+1G>A;ENST00000269192:exon5:c.299+1G>A;ENST00000591182:exon4:c.209+1G>A)	.	.	0.999989263107695	0.936
18	32418136	G	C	18	34838172	y	y	splicing	DTNA(NM_032978:exon11:c.1163+1G>C;NM_001391:exon11:c.1172+1G>C;NM_001390:exon11:c.1172+1G>C;NM_001198942:exon5:c.299+1G>C;NM_032980:exon4:c.209+1G>C)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.209+1G>C;ENST00000269190:exon14:c.1175+1G>C;ENST00000348997:exon11:c.1163+1G>C;ENST00000269191:exon11:c.1172+1G>C;ENST00000444659:exon11:c.1172+1G>C;ENST00000399113:exon11:c.1172+1G>C;ENST00000269192:exon5:c.299+1G>C;ENST00000591182:exon4:c.209+1G>C)	.	.	0.999989263107695	0.936
18	32418136	G	T	18	34838172	y	y	splicing	DTNA(NM_032978:exon11:c.1163+1G>T;NM_001391:exon11:c.1172+1G>T;NM_001390:exon11:c.1172+1G>T;NM_001198942:exon5:c.299+1G>T;NM_032980:exon4:c.209+1G>T)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.209+1G>T;ENST00000269190:exon14:c.1175+1G>T;ENST00000348997:exon11:c.1163+1G>T;ENST00000269191:exon11:c.1172+1G>T;ENST00000444659:exon11:c.1172+1G>T;ENST00000399113:exon11:c.1172+1G>T;ENST00000269192:exon5:c.299+1G>T;ENST00000591182:exon4:c.209+1G>T)	.	.	0.999989263107695	0.936
18	32418137	T	A	18	34838173	y	y	splicing	DTNA(NM_032978:exon11:c.1163+2T>A;NM_001391:exon11:c.1172+2T>A;NM_001390:exon11:c.1172+2T>A;NM_001198942:exon5:c.299+2T>A;NM_032980:exon4:c.209+2T>A)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.209+2T>A;ENST00000269190:exon14:c.1175+2T>A;ENST00000348997:exon11:c.1163+2T>A;ENST00000269191:exon11:c.1172+2T>A;ENST00000444659:exon11:c.1172+2T>A;ENST00000399113:exon11:c.1172+2T>A;ENST00000269192:exon5:c.299+2T>A;ENST00000591182:exon4:c.209+2T>A)	.	.	0.999988247793601	0.932
18	32418137	T	C	18	34838173	y	y	splicing	DTNA(NM_032978:exon11:c.1163+2T>C;NM_001391:exon11:c.1172+2T>C;NM_001390:exon11:c.1172+2T>C;NM_001198942:exon5:c.299+2T>C;NM_032980:exon4:c.209+2T>C)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.209+2T>C;ENST00000269190:exon14:c.1175+2T>C;ENST00000348997:exon11:c.1163+2T>C;ENST00000269191:exon11:c.1172+2T>C;ENST00000444659:exon11:c.1172+2T>C;ENST00000399113:exon11:c.1172+2T>C;ENST00000269192:exon5:c.299+2T>C;ENST00000591182:exon4:c.209+2T>C)	.	.	0.99340600729494	0.678
18	32418137	T	G	18	34838173	y	y	splicing	DTNA(NM_032978:exon11:c.1163+2T>G;NM_001391:exon11:c.1172+2T>G;NM_001390:exon11:c.1172+2T>G;NM_001198942:exon5:c.299+2T>G;NM_032980:exon4:c.209+2T>G)	.	.	splicing	ENSG00000134769(ENST00000399097:exon12:c.209+2T>G;ENST00000269190:exon14:c.1175+2T>G;ENST00000348997:exon11:c.1163+2T>G;ENST00000269191:exon11:c.1172+2T>G;ENST00000444659:exon11:c.1172+2T>G;ENST00000399113:exon11:c.1172+2T>G;ENST00000269192:exon5:c.299+2T>G;ENST00000591182:exon4:c.209+2T>G)	.	.	0.999988247793601	0.932
18	32418138	A	C	18	34838174	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999501683733473	0.956
18	32418138	A	G	18	34838174	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.468969604171629	0.42
18	32418138	A	T	18	34838174	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999138599415998	0.956
18	32418139	A	C	18	34838175	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0801165550696964	0.21
18	32418139	A	G	18	34838175	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.499710607489152	0.38
18	32418139	A	T	18	34838175	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.325049430038944	0.182
18	32418140	G	A	18	34838176	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.995534433695407	0.918
18	32418140	G	C	18	34838176	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99300722562579	0.862
18	32418140	G	T	18	34838176	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.989883117388291	0.81
18	32418141	T	A	18	34838177	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0430496266982025	0.386
18	32418141	T	C	18	34838177	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0886464940224706	0.424
18	32418141	T	G	18	34838177	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0153378108008179	0.29
18	32418142	T	A	18	34838178	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.85892088628007E-5	0.038
18	32418142	T	C	18	34838178	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.85892088628007E-5	0.02
18	32418142	T	G	18	34838178	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.88951250399587E-5	0.024
18	32418143	A	C	18	34838179	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.42005417025298E-5	0.006
18	32418143	A	G	18	34838179	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.24487870456941E-5	0.002
18	32418143	A	T	18	34838179	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.19348260541807E-5	0.0
18	32418697	G	A	18	34838733	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.47008969088953E-4	0.092
18	32418697	G	C	18	34838733	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.2205721232942E-5	0.074
18	32418697	G	T	18	34838733	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.8202950747933E-5	0.12
18	32418698	C	A	18	34838734	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.917388881926654	0.706
18	32418698	C	G	18	34838734	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.91665216246757	0.664
18	32418698	C	T	18	34838734	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.918186259779155	0.686
18	32418699	C	A	18	34838735	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.948248670396191	0.662
18	32418699	C	G	18	34838735	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.964518199398176	0.654
18	32418699	C	T	18	34838735	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.959261855431996	0.82
18	32418700	C	A	18	34838736	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.242473806040533	0.376
18	32418700	C	G	18	34838736	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.104414408470746	0.3
18	32418700	C	T	18	34838736	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.299135210708002	0.598
18	32418701	T	A	18	34838737	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999902585223086	0.98
18	32418701	T	C	18	34838737	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.57866364963625E-4	0.004
18	32418701	T	G	18	34838737	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00233016937047307	0.162
18	32418702	G	A	18	34838738	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.82642395345043E-4	0.0
18	32418702	G	C	18	34838738	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.35133482633671E-5	0.0
18	32418702	G	T	18	34838738	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.73943351601243E-5	0.002
18	32418703	T	A	18	34838739	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.983940229601288	0.76
18	32418703	T	C	18	34838739	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0128896511988166	0.184
18	32418703	T	G	18	34838739	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.985396701394796	0.808
18	32418704	T	A	18	34838740	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997021643772194	0.898
18	32418704	T	C	18	34838740	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.250979729217009	0.414
18	32418704	T	G	18	34838740	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.995986989627887	0.902
18	32418705	T	A	18	34838741	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.63235695743395E-4	0.03
18	32418705	T	C	18	34838741	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.82905714826331E-4	0.008
18	32418705	T	G	18	34838741	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.97653540936117E-4	0.02
18	32418706	C	A	18	34838742	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.244673165014874	0.476
18	32418706	C	G	18	34838742	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998990375879408	0.902
18	32418706	C	T	18	34838742	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00312045223292479	0.038
18	32418707	A	C	18	34838743	y	y	splicing	DTNA(NM_032978:exon12:c.1164-2A>C;NM_001391:exon12:c.1173-2A>C;NM_001390:exon12:c.1173-2A>C;NM_001198942:exon6:c.300-2A>C)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1176-2A>C;ENST00000348997:exon12:c.1164-2A>C;ENST00000269191:exon12:c.1173-2A>C;ENST00000444659:exon12:c.1173-2A>C;ENST00000399113:exon12:c.1173-2A>C;ENST00000269192:exon6:c.300-2A>C)	.	.	0.999988247793601	0.93
18	32418707	A	G	18	34838743	y	y	splicing	DTNA(NM_032978:exon12:c.1164-2A>G;NM_001391:exon12:c.1173-2A>G;NM_001390:exon12:c.1173-2A>G;NM_001198942:exon6:c.300-2A>G)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1176-2A>G;ENST00000348997:exon12:c.1164-2A>G;ENST00000269191:exon12:c.1173-2A>G;ENST00000444659:exon12:c.1173-2A>G;ENST00000399113:exon12:c.1173-2A>G;ENST00000269192:exon6:c.300-2A>G)	.	.	0.999988247793601	0.93
18	32418707	A	T	18	34838743	y	y	splicing	DTNA(NM_032978:exon12:c.1164-2A>T;NM_001391:exon12:c.1173-2A>T;NM_001390:exon12:c.1173-2A>T;NM_001198942:exon6:c.300-2A>T)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1176-2A>T;ENST00000348997:exon12:c.1164-2A>T;ENST00000269191:exon12:c.1173-2A>T;ENST00000444659:exon12:c.1173-2A>T;ENST00000399113:exon12:c.1173-2A>T;ENST00000269192:exon6:c.300-2A>T)	.	.	0.999988247793601	0.93
18	32418708	G	A	18	34838744	y	y	splicing	DTNA(NM_032978:exon12:c.1164-1G>A;NM_001391:exon12:c.1173-1G>A;NM_001390:exon12:c.1173-1G>A;NM_001198942:exon6:c.300-1G>A)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1176-1G>A;ENST00000348997:exon12:c.1164-1G>A;ENST00000269191:exon12:c.1173-1G>A;ENST00000444659:exon12:c.1173-1G>A;ENST00000399113:exon12:c.1173-1G>A;ENST00000269192:exon6:c.300-1G>A)	.	.	0.999989072007339	0.934
18	32418708	G	C	18	34838744	y	y	splicing	DTNA(NM_032978:exon12:c.1164-1G>C;NM_001391:exon12:c.1173-1G>C;NM_001390:exon12:c.1173-1G>C;NM_001198942:exon6:c.300-1G>C)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1176-1G>C;ENST00000348997:exon12:c.1164-1G>C;ENST00000269191:exon12:c.1173-1G>C;ENST00000444659:exon12:c.1173-1G>C;ENST00000399113:exon12:c.1173-1G>C;ENST00000269192:exon6:c.300-1G>C)	.	.	0.999989072007339	0.934
18	32418708	G	T	18	34838744	y	y	splicing	DTNA(NM_032978:exon12:c.1164-1G>T;NM_001391:exon12:c.1173-1G>T;NM_001390:exon12:c.1173-1G>T;NM_001198942:exon6:c.300-1G>T)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1176-1G>T;ENST00000348997:exon12:c.1164-1G>T;ENST00000269191:exon12:c.1173-1G>T;ENST00000444659:exon12:c.1173-1G>T;ENST00000399113:exon12:c.1173-1G>T;ENST00000269192:exon6:c.300-1G>T)	.	.	0.999989072007339	0.934
18	32418709	G	A	18	34838745	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032978:exon12:c.G1164A:p.G388G;DTNA:NM_001390:exon12:c.G1173A:p.G391G;DTNA:NM_001198942:exon6:c.G300A:p.G100G;DTNA:NM_001391:exon12:c.G1173A:p.G391G;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.G1164A:p.G388G;ENSG00000134769:ENST00000444659:exon12:c.G1173A:p.G391G;ENSG00000134769:ENST00000269191:exon12:c.G1173A:p.G391G;ENSG00000134769:ENST00000399113:exon12:c.G1173A:p.G391G;ENSG00000134769:ENST00000269190:exon15:c.G1176A:p.G392G;ENSG00000134769:ENST00000269192:exon6:c.G300A:p.G100G;	0.994879224542788	0.684
18	32418709	G	C	18	34838745	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032978:exon12:c.G1164C:p.G388G;DTNA:NM_001390:exon12:c.G1173C:p.G391G;DTNA:NM_001198942:exon6:c.G300C:p.G100G;DTNA:NM_001391:exon12:c.G1173C:p.G391G;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.G1164C:p.G388G;ENSG00000134769:ENST00000444659:exon12:c.G1173C:p.G391G;ENSG00000134769:ENST00000269191:exon12:c.G1173C:p.G391G;ENSG00000134769:ENST00000399113:exon12:c.G1173C:p.G391G;ENSG00000134769:ENST00000269190:exon15:c.G1176C:p.G392G;ENSG00000134769:ENST00000269192:exon6:c.G300C:p.G100G;	0.996227489159954	0.872
18	32418709	G	T	18	34838745	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032978:exon12:c.G1164T:p.G388G;DTNA:NM_001390:exon12:c.G1173T:p.G391G;DTNA:NM_001198942:exon6:c.G300T:p.G100G;DTNA:NM_001391:exon12:c.G1173T:p.G391G;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.G1164T:p.G388G;ENSG00000134769:ENST00000444659:exon12:c.G1173T:p.G391G;ENSG00000134769:ENST00000269191:exon12:c.G1173T:p.G391G;ENSG00000134769:ENST00000399113:exon12:c.G1173T:p.G391G;ENSG00000134769:ENST00000269190:exon15:c.G1176T:p.G392G;ENSG00000134769:ENST00000269192:exon6:c.G300T:p.G100G;	0.995893500865347	0.89
18	32418710	A	C	18	34838746	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.A1165C:p.I389L;DTNA:NM_001390:exon12:c.A1174C:p.I392L;DTNA:NM_001198942:exon6:c.A301C:p.I101L;DTNA:NM_001391:exon12:c.A1174C:p.I392L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.A1165C:p.I389L;ENSG00000134769:ENST00000444659:exon12:c.A1174C:p.I392L;ENSG00000134769:ENST00000269191:exon12:c.A1174C:p.I392L;ENSG00000134769:ENST00000399113:exon12:c.A1174C:p.I392L;ENSG00000134769:ENST00000269190:exon15:c.A1177C:p.I393L;ENSG00000134769:ENST00000269192:exon6:c.A301C:p.I101L;	1.17618033423816E-4	0.116
18	32418710	A	G	18	34838746	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.A1165G:p.I389V;DTNA:NM_001390:exon12:c.A1174G:p.I392V;DTNA:NM_001198942:exon6:c.A301G:p.I101V;DTNA:NM_001391:exon12:c.A1174G:p.I392V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.A1165G:p.I389V;ENSG00000134769:ENST00000444659:exon12:c.A1174G:p.I392V;ENSG00000134769:ENST00000269191:exon12:c.A1174G:p.I392V;ENSG00000134769:ENST00000399113:exon12:c.A1174G:p.I392V;ENSG00000134769:ENST00000269190:exon15:c.A1177G:p.I393V;ENSG00000134769:ENST00000269192:exon6:c.A301G:p.I101V;	0.00137730198995212	0.036
18	32418710	A	T	18	34838746	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.A1165T:p.I389L;DTNA:NM_001390:exon12:c.A1174T:p.I392L;DTNA:NM_001198942:exon6:c.A301T:p.I101L;DTNA:NM_001391:exon12:c.A1174T:p.I392L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.A1165T:p.I389L;ENSG00000134769:ENST00000444659:exon12:c.A1174T:p.I392L;ENSG00000134769:ENST00000269191:exon12:c.A1174T:p.I392L;ENSG00000134769:ENST00000399113:exon12:c.A1174T:p.I392L;ENSG00000134769:ENST00000269190:exon15:c.A1177T:p.I393L;ENSG00000134769:ENST00000269192:exon6:c.A301T:p.I101L;	1.89890954793491E-4	0.004
18	32418799	A	C	18	34838835	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032978:exon12:c.A1254C:p.S418S;DTNA:NM_001390:exon12:c.A1263C:p.S421S;DTNA:NM_001198942:exon6:c.A390C:p.S130S;DTNA:NM_001391:exon12:c.A1263C:p.S421S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.A1254C:p.S418S;ENSG00000134769:ENST00000444659:exon12:c.A1263C:p.S421S;ENSG00000134769:ENST00000269191:exon12:c.A1263C:p.S421S;ENSG00000134769:ENST00000399113:exon12:c.A1263C:p.S421S;ENSG00000134769:ENST00000269190:exon15:c.A1266C:p.S422S;ENSG00000134769:ENST00000269192:exon6:c.A390C:p.S130S;	0.229630176911817	0.31
18	32418799	A	G	18	34838835	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032978:exon12:c.A1254G:p.S418S;DTNA:NM_001390:exon12:c.A1263G:p.S421S;DTNA:NM_001198942:exon6:c.A390G:p.S130S;DTNA:NM_001391:exon12:c.A1263G:p.S421S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.A1254G:p.S418S;ENSG00000134769:ENST00000444659:exon12:c.A1263G:p.S421S;ENSG00000134769:ENST00000269191:exon12:c.A1263G:p.S421S;ENSG00000134769:ENST00000399113:exon12:c.A1263G:p.S421S;ENSG00000134769:ENST00000269190:exon15:c.A1266G:p.S422S;ENSG00000134769:ENST00000269192:exon6:c.A390G:p.S130S;	0.317193419987893	0.468
18	32418799	A	T	18	34838835	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032978:exon12:c.A1254T:p.S418S;DTNA:NM_001390:exon12:c.A1263T:p.S421S;DTNA:NM_001198942:exon6:c.A390T:p.S130S;DTNA:NM_001391:exon12:c.A1263T:p.S421S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.A1254T:p.S418S;ENSG00000134769:ENST00000444659:exon12:c.A1263T:p.S421S;ENSG00000134769:ENST00000269191:exon12:c.A1263T:p.S421S;ENSG00000134769:ENST00000399113:exon12:c.A1263T:p.S421S;ENSG00000134769:ENST00000269190:exon15:c.A1266T:p.S422S;ENSG00000134769:ENST00000269192:exon6:c.A390T:p.S130S;	0.963845082540255	0.654
18	32418800	T	A	18	34838836	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.T1255A:p.C419S;DTNA:NM_001390:exon12:c.T1264A:p.C422S;DTNA:NM_001198942:exon6:c.T391A:p.C131S;DTNA:NM_001391:exon12:c.T1264A:p.C422S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.T1255A:p.C419S;ENSG00000134769:ENST00000444659:exon12:c.T1264A:p.C422S;ENSG00000134769:ENST00000269191:exon12:c.T1264A:p.C422S;ENSG00000134769:ENST00000399113:exon12:c.T1264A:p.C422S;ENSG00000134769:ENST00000269190:exon15:c.T1267A:p.C423S;ENSG00000134769:ENST00000269192:exon6:c.T391A:p.C131S;	0.00141582219497207	0.114
18	32418800	T	C	18	34838836	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.T1255C:p.C419R;DTNA:NM_001390:exon12:c.T1264C:p.C422R;DTNA:NM_001198942:exon6:c.T391C:p.C131R;DTNA:NM_001391:exon12:c.T1264C:p.C422R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.T1255C:p.C419R;ENSG00000134769:ENST00000444659:exon12:c.T1264C:p.C422R;ENSG00000134769:ENST00000269191:exon12:c.T1264C:p.C422R;ENSG00000134769:ENST00000399113:exon12:c.T1264C:p.C422R;ENSG00000134769:ENST00000269190:exon15:c.T1267C:p.C423R;ENSG00000134769:ENST00000269192:exon6:c.T391C:p.C131R;	0.00700984430405019	0.12
18	32418800	T	G	18	34838836	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.T1255G:p.C419G;DTNA:NM_001390:exon12:c.T1264G:p.C422G;DTNA:NM_001198942:exon6:c.T391G:p.C131G;DTNA:NM_001391:exon12:c.T1264G:p.C422G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.T1255G:p.C419G;ENSG00000134769:ENST00000444659:exon12:c.T1264G:p.C422G;ENSG00000134769:ENST00000269191:exon12:c.T1264G:p.C422G;ENSG00000134769:ENST00000399113:exon12:c.T1264G:p.C422G;ENSG00000134769:ENST00000269190:exon15:c.T1267G:p.C423G;ENSG00000134769:ENST00000269192:exon6:c.T391G:p.C131G;	0.0241283874501361	0.27
18	32418801	G	A	18	34838837	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.G1256A:p.C419Y;DTNA:NM_001390:exon12:c.G1265A:p.C422Y;DTNA:NM_001198942:exon6:c.G392A:p.C131Y;DTNA:NM_001391:exon12:c.G1265A:p.C422Y;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.G1256A:p.C419Y;ENSG00000134769:ENST00000444659:exon12:c.G1265A:p.C422Y;ENSG00000134769:ENST00000269191:exon12:c.G1265A:p.C422Y;ENSG00000134769:ENST00000399113:exon12:c.G1265A:p.C422Y;ENSG00000134769:ENST00000269190:exon15:c.G1268A:p.C423Y;ENSG00000134769:ENST00000269192:exon6:c.G392A:p.C131Y;	0.999980517993377	1.0
18	32418801	G	C	18	34838837	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.G1256C:p.C419S;DTNA:NM_001390:exon12:c.G1265C:p.C422S;DTNA:NM_001198942:exon6:c.G392C:p.C131S;DTNA:NM_001391:exon12:c.G1265C:p.C422S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.G1256C:p.C419S;ENSG00000134769:ENST00000444659:exon12:c.G1265C:p.C422S;ENSG00000134769:ENST00000269191:exon12:c.G1265C:p.C422S;ENSG00000134769:ENST00000399113:exon12:c.G1265C:p.C422S;ENSG00000134769:ENST00000269190:exon15:c.G1268C:p.C423S;ENSG00000134769:ENST00000269192:exon6:c.G392C:p.C131S;	0.999994918042455	0.992
18	32418801	G	T	18	34838837	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032978:exon12:c.G1256T:p.C419F;DTNA:NM_001390:exon12:c.G1265T:p.C422F;DTNA:NM_001198942:exon6:c.G392T:p.C131F;DTNA:NM_001391:exon12:c.G1265T:p.C422F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon12:c.G1256T:p.C419F;ENSG00000134769:ENST00000444659:exon12:c.G1265T:p.C422F;ENSG00000134769:ENST00000269191:exon12:c.G1265T:p.C422F;ENSG00000134769:ENST00000399113:exon12:c.G1265T:p.C422F;ENSG00000134769:ENST00000269190:exon15:c.G1268T:p.C423F;ENSG00000134769:ENST00000269192:exon6:c.G392T:p.C131F;	0.999972278818839	1.0
18	32418802	G	A	18	34838838	y	y	splicing	DTNA(NM_032978:exon12:c.1256+1G>A;NM_001391:exon12:c.1265+1G>A;NM_001390:exon12:c.1265+1G>A;NM_001198942:exon6:c.392+1G>A)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1268+1G>A;ENST00000348997:exon12:c.1256+1G>A;ENST00000269191:exon12:c.1265+1G>A;ENST00000444659:exon12:c.1265+1G>A;ENST00000399113:exon12:c.1265+1G>A;ENST00000269192:exon6:c.392+1G>A)	.	.	0.999991783345782	0.932
18	32418802	G	C	18	34838838	y	y	splicing	DTNA(NM_032978:exon12:c.1256+1G>C;NM_001391:exon12:c.1265+1G>C;NM_001390:exon12:c.1265+1G>C;NM_001198942:exon6:c.392+1G>C)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1268+1G>C;ENST00000348997:exon12:c.1256+1G>C;ENST00000269191:exon12:c.1265+1G>C;ENST00000444659:exon12:c.1265+1G>C;ENST00000399113:exon12:c.1265+1G>C;ENST00000269192:exon6:c.392+1G>C)	.	.	0.999991783345782	0.93
18	32418802	G	T	18	34838838	y	y	splicing	DTNA(NM_032978:exon12:c.1256+1G>T;NM_001391:exon12:c.1265+1G>T;NM_001390:exon12:c.1265+1G>T;NM_001198942:exon6:c.392+1G>T)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1268+1G>T;ENST00000348997:exon12:c.1256+1G>T;ENST00000269191:exon12:c.1265+1G>T;ENST00000444659:exon12:c.1265+1G>T;ENST00000399113:exon12:c.1265+1G>T;ENST00000269192:exon6:c.392+1G>T)	.	.	0.999991783345782	0.93
18	32418803	T	A	18	34838839	y	y	splicing	DTNA(NM_032978:exon12:c.1256+2T>A;NM_001391:exon12:c.1265+2T>A;NM_001390:exon12:c.1265+2T>A;NM_001198942:exon6:c.392+2T>A)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1268+2T>A;ENST00000348997:exon12:c.1256+2T>A;ENST00000269191:exon12:c.1265+2T>A;ENST00000444659:exon12:c.1265+2T>A;ENST00000399113:exon12:c.1265+2T>A;ENST00000269192:exon6:c.392+2T>A)	.	.	0.999988247793601	0.93
18	32418803	T	C	18	34838839	y	y	splicing	DTNA(NM_032978:exon12:c.1256+2T>C;NM_001391:exon12:c.1265+2T>C;NM_001390:exon12:c.1265+2T>C;NM_001198942:exon6:c.392+2T>C)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1268+2T>C;ENST00000348997:exon12:c.1256+2T>C;ENST00000269191:exon12:c.1265+2T>C;ENST00000444659:exon12:c.1265+2T>C;ENST00000399113:exon12:c.1265+2T>C;ENST00000269192:exon6:c.392+2T>C)	.	.	0.999897703382408	0.898
18	32418803	T	G	18	34838839	y	y	splicing	DTNA(NM_032978:exon12:c.1256+2T>G;NM_001391:exon12:c.1265+2T>G;NM_001390:exon12:c.1265+2T>G;NM_001198942:exon6:c.392+2T>G)	.	.	splicing	ENSG00000134769(ENST00000269190:exon15:c.1268+2T>G;ENST00000348997:exon12:c.1256+2T>G;ENST00000269191:exon12:c.1265+2T>G;ENST00000444659:exon12:c.1265+2T>G;ENST00000399113:exon12:c.1265+2T>G;ENST00000269192:exon6:c.392+2T>G)	.	.	0.999988247793601	0.93
18	32418804	T	A	18	34838840	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0822786084436545	0.144
18	32418804	T	C	18	34838840	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.659689371572911	0.328
18	32418804	T	G	18	34838840	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0519876944600781	0.2
18	32418805	A	C	18	34838841	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.996446773271517	0.888
18	32418805	A	G	18	34838841	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.996390458046426	0.926
18	32418805	A	T	18	34838841	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997475923462053	0.938
18	32418806	G	A	18	34838842	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999926405237805	1.0
18	32418806	G	C	18	34838842	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999946258404308	0.998
18	32418806	G	T	18	34838842	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999930455717404	0.982
18	32418807	T	A	18	34838843	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.992132635770234	0.788
18	32418807	T	C	18	34838843	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.985788841751893	0.814
18	32418807	T	G	18	34838843	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.994336611161946	0.888
18	32418808	G	A	18	34838844	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0616010554714426	0.216
18	32418808	G	C	18	34838844	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0228195427548534	0.106
18	32418808	G	T	18	34838844	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0723493710673185	0.148
18	32418809	C	A	18	34838845	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.55840564875375E-4	0.002
18	32418809	C	G	18	34838845	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.10302312992471E-4	0.042
18	32418809	C	T	18	34838845	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.44575318234205E-4	0.0
18	32428248	T	A	18	34848284	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999182818144854	0.948
18	32428248	T	C	18	34848284	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.00536180029845E-4	0.002
18	32428248	T	G	18	34848284	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00562076441592379	0.138
18	32428249	G	A	18	34848285	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.25578155580819E-5	0.002
18	32428249	G	C	18	34848285	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.06345044021037E-5	0.0
18	32428249	G	T	18	34848285	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.26456141503457E-5	0.052
18	32428250	T	A	18	34848286	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0120244723843439	0.162
18	32428250	T	C	18	34848286	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.2066874742991E-4	0.0
18	32428250	T	G	18	34848286	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0284376429438642	0.208
18	32428251	T	A	18	34848287	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0332689242566578	0.302
18	32428251	T	C	18	34848287	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.98233687069037E-4	0.058
18	32428251	T	G	18	34848287	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00940280517974128	0.256
18	32428252	C	A	18	34848288	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00370136034649671	0.104
18	32428252	C	G	18	34848288	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00793263725989009	0.096
18	32428252	C	T	18	34848288	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.73490129976718E-5	0.0
18	32428253	T	A	18	34848289	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0176375827519795	0.122
18	32428253	T	C	18	34848289	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.4731367705117E-5	0.006
18	32428253	T	G	18	34848289	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.010580334042073	0.148
18	32428254	T	A	18	34848290	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00365516877169558	0.088
18	32428254	T	C	18	34848290	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.23606343461219E-5	0.0
18	32428254	T	G	18	34848290	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00522396982311504	0.104
18	32428255	A	C	18	34848291	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.93014365101017E-5	0.0
18	32428255	A	G	18	34848291	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.26680800479787E-4	0.006
18	32428255	A	T	18	34848291	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.91845322223531E-5	0.06
18	32428256	A	C	18	34848292	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.74754936548761E-5	0.0
18	32428256	A	G	18	34848292	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.962178649912003	0.952
18	32428256	A	T	18	34848292	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.01070917092776E-4	0.002
18	32428257	T	A	18	34848293	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.3473535174285E-4	0.274
18	32428257	T	C	18	34848293	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.20893910840109E-5	0.012
18	32428257	T	G	18	34848293	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.984103765666503	0.65
18	32428258	A	C	18	34848294	y	y	splicing	DTNA(NM_032975:exon13:c.1095-2A>C;NM_032979:exon13:c.1095-2A>C;NM_001198940:exon12:c.1086-2A>C;NM_001198939:exon12:c.1086-2A>C;NM_001198938:exon12:c.1086-2A>C;NM_001198941:exon11:c.1086-2A>C;NM_032978:exon13:c.1257-2A>C;NM_001391:exon13:c.1266-2A>C;NM_001390:exon13:c.1266-2A>C;NM_001198943:exon4:c.336-2A>C;NM_001198944:exon5:c.222-2A>C;NM_001198942:exon7:c.393-2A>C;NM_032981:exon4:c.132-2A>C;NM_032980:exon5:c.210-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1095-2A>C;ENST00000598334:exon12:c.1086-2A>C;ENST00000399121:exon12:c.1086-2A>C;ENST00000399097:exon13:c.210-2A>C;ENST00000269190:exon16:c.1269-2A>C;ENST00000595022:exon12:c.1086-2A>C;ENST00000598142:exon12:c.1095-2A>C;ENST00000598774:exon12:c.1095-2A>C;ENST00000348997:exon13:c.1257-2A>C;ENST00000597599:exon11:c.1086-2A>C;ENST00000269191:exon13:c.1266-2A>C;ENST00000444659:exon13:c.1266-2A>C;ENST00000399113:exon13:c.1266-2A>C;ENST00000601125:exon4:c.132-2A>C;ENST00000269192:exon7:c.393-2A>C;ENST00000591182:exon5:c.210-2A>C;ENST00000556414:exon5:c.222-2A>C;ENST00000597674:exon4:c.132-2A>C;ENST00000599844:exon4:c.132-2A>C;ENST00000587723:exon3:c.63-2A>C)	.	.	0.999966203349492	0.928
18	32428258	A	G	18	34848294	y	y	splicing	DTNA(NM_032975:exon13:c.1095-2A>G;NM_032979:exon13:c.1095-2A>G;NM_001198940:exon12:c.1086-2A>G;NM_001198939:exon12:c.1086-2A>G;NM_001198938:exon12:c.1086-2A>G;NM_001198941:exon11:c.1086-2A>G;NM_032978:exon13:c.1257-2A>G;NM_001391:exon13:c.1266-2A>G;NM_001390:exon13:c.1266-2A>G;NM_001198943:exon4:c.336-2A>G;NM_001198944:exon5:c.222-2A>G;NM_001198942:exon7:c.393-2A>G;NM_032981:exon4:c.132-2A>G;NM_032980:exon5:c.210-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1095-2A>G;ENST00000598334:exon12:c.1086-2A>G;ENST00000399121:exon12:c.1086-2A>G;ENST00000399097:exon13:c.210-2A>G;ENST00000269190:exon16:c.1269-2A>G;ENST00000595022:exon12:c.1086-2A>G;ENST00000598142:exon12:c.1095-2A>G;ENST00000598774:exon12:c.1095-2A>G;ENST00000348997:exon13:c.1257-2A>G;ENST00000597599:exon11:c.1086-2A>G;ENST00000269191:exon13:c.1266-2A>G;ENST00000444659:exon13:c.1266-2A>G;ENST00000399113:exon13:c.1266-2A>G;ENST00000601125:exon4:c.132-2A>G;ENST00000269192:exon7:c.393-2A>G;ENST00000591182:exon5:c.210-2A>G;ENST00000556414:exon5:c.222-2A>G;ENST00000597674:exon4:c.132-2A>G;ENST00000599844:exon4:c.132-2A>G;ENST00000587723:exon3:c.63-2A>G)	.	.	0.999966203349492	0.92
18	32428258	A	T	18	34848294	y	y	splicing	DTNA(NM_032975:exon13:c.1095-2A>T;NM_032979:exon13:c.1095-2A>T;NM_001198940:exon12:c.1086-2A>T;NM_001198939:exon12:c.1086-2A>T;NM_001198938:exon12:c.1086-2A>T;NM_001198941:exon11:c.1086-2A>T;NM_032978:exon13:c.1257-2A>T;NM_001391:exon13:c.1266-2A>T;NM_001390:exon13:c.1266-2A>T;NM_001198943:exon4:c.336-2A>T;NM_001198944:exon5:c.222-2A>T;NM_001198942:exon7:c.393-2A>T;NM_032981:exon4:c.132-2A>T;NM_032980:exon5:c.210-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1095-2A>T;ENST00000598334:exon12:c.1086-2A>T;ENST00000399121:exon12:c.1086-2A>T;ENST00000399097:exon13:c.210-2A>T;ENST00000269190:exon16:c.1269-2A>T;ENST00000595022:exon12:c.1086-2A>T;ENST00000598142:exon12:c.1095-2A>T;ENST00000598774:exon12:c.1095-2A>T;ENST00000348997:exon13:c.1257-2A>T;ENST00000597599:exon11:c.1086-2A>T;ENST00000269191:exon13:c.1266-2A>T;ENST00000444659:exon13:c.1266-2A>T;ENST00000399113:exon13:c.1266-2A>T;ENST00000601125:exon4:c.132-2A>T;ENST00000269192:exon7:c.393-2A>T;ENST00000591182:exon5:c.210-2A>T;ENST00000556414:exon5:c.222-2A>T;ENST00000597674:exon4:c.132-2A>T;ENST00000599844:exon4:c.132-2A>T;ENST00000587723:exon3:c.63-2A>T)	.	.	0.99998174402319	0.926
18	32428259	G	A	18	34848295	y	y	splicing	DTNA(NM_032975:exon13:c.1095-1G>A;NM_032979:exon13:c.1095-1G>A;NM_001198940:exon12:c.1086-1G>A;NM_001198939:exon12:c.1086-1G>A;NM_001198938:exon12:c.1086-1G>A;NM_001198941:exon11:c.1086-1G>A;NM_032978:exon13:c.1257-1G>A;NM_001391:exon13:c.1266-1G>A;NM_001390:exon13:c.1266-1G>A;NM_001198943:exon4:c.336-1G>A;NM_001198944:exon5:c.222-1G>A;NM_001198942:exon7:c.393-1G>A;NM_032981:exon4:c.132-1G>A;NM_032980:exon5:c.210-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1095-1G>A;ENST00000598334:exon12:c.1086-1G>A;ENST00000399121:exon12:c.1086-1G>A;ENST00000399097:exon13:c.210-1G>A;ENST00000269190:exon16:c.1269-1G>A;ENST00000595022:exon12:c.1086-1G>A;ENST00000598142:exon12:c.1095-1G>A;ENST00000598774:exon12:c.1095-1G>A;ENST00000348997:exon13:c.1257-1G>A;ENST00000597599:exon11:c.1086-1G>A;ENST00000269191:exon13:c.1266-1G>A;ENST00000444659:exon13:c.1266-1G>A;ENST00000399113:exon13:c.1266-1G>A;ENST00000601125:exon4:c.132-1G>A;ENST00000269192:exon7:c.393-1G>A;ENST00000591182:exon5:c.210-1G>A;ENST00000556414:exon5:c.222-1G>A;ENST00000597674:exon4:c.132-1G>A;ENST00000599844:exon4:c.132-1G>A;ENST00000587723:exon3:c.63-1G>A)	.	.	0.999981760802075	0.938
18	32428259	G	C	18	34848295	y	y	splicing	DTNA(NM_032975:exon13:c.1095-1G>C;NM_032979:exon13:c.1095-1G>C;NM_001198940:exon12:c.1086-1G>C;NM_001198939:exon12:c.1086-1G>C;NM_001198938:exon12:c.1086-1G>C;NM_001198941:exon11:c.1086-1G>C;NM_032978:exon13:c.1257-1G>C;NM_001391:exon13:c.1266-1G>C;NM_001390:exon13:c.1266-1G>C;NM_001198943:exon4:c.336-1G>C;NM_001198944:exon5:c.222-1G>C;NM_001198942:exon7:c.393-1G>C;NM_032981:exon4:c.132-1G>C;NM_032980:exon5:c.210-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1095-1G>C;ENST00000598334:exon12:c.1086-1G>C;ENST00000399121:exon12:c.1086-1G>C;ENST00000399097:exon13:c.210-1G>C;ENST00000269190:exon16:c.1269-1G>C;ENST00000595022:exon12:c.1086-1G>C;ENST00000598142:exon12:c.1095-1G>C;ENST00000598774:exon12:c.1095-1G>C;ENST00000348997:exon13:c.1257-1G>C;ENST00000597599:exon11:c.1086-1G>C;ENST00000269191:exon13:c.1266-1G>C;ENST00000444659:exon13:c.1266-1G>C;ENST00000399113:exon13:c.1266-1G>C;ENST00000601125:exon4:c.132-1G>C;ENST00000269192:exon7:c.393-1G>C;ENST00000591182:exon5:c.210-1G>C;ENST00000556414:exon5:c.222-1G>C;ENST00000597674:exon4:c.132-1G>C;ENST00000599844:exon4:c.132-1G>C;ENST00000587723:exon3:c.63-1G>C)	.	.	0.999967335026411	0.938
18	32428259	G	T	18	34848295	y	y	splicing	DTNA(NM_032975:exon13:c.1095-1G>T;NM_032979:exon13:c.1095-1G>T;NM_001198940:exon12:c.1086-1G>T;NM_001198939:exon12:c.1086-1G>T;NM_001198938:exon12:c.1086-1G>T;NM_001198941:exon11:c.1086-1G>T;NM_032978:exon13:c.1257-1G>T;NM_001391:exon13:c.1266-1G>T;NM_001390:exon13:c.1266-1G>T;NM_001198943:exon4:c.336-1G>T;NM_001198944:exon5:c.222-1G>T;NM_001198942:exon7:c.393-1G>T;NM_032981:exon4:c.132-1G>T;NM_032980:exon5:c.210-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1095-1G>T;ENST00000598334:exon12:c.1086-1G>T;ENST00000399121:exon12:c.1086-1G>T;ENST00000399097:exon13:c.210-1G>T;ENST00000269190:exon16:c.1269-1G>T;ENST00000595022:exon12:c.1086-1G>T;ENST00000598142:exon12:c.1095-1G>T;ENST00000598774:exon12:c.1095-1G>T;ENST00000348997:exon13:c.1257-1G>T;ENST00000597599:exon11:c.1086-1G>T;ENST00000269191:exon13:c.1266-1G>T;ENST00000444659:exon13:c.1266-1G>T;ENST00000399113:exon13:c.1266-1G>T;ENST00000601125:exon4:c.132-1G>T;ENST00000269192:exon7:c.393-1G>T;ENST00000591182:exon5:c.210-1G>T;ENST00000556414:exon5:c.222-1G>T;ENST00000597674:exon4:c.132-1G>T;ENST00000599844:exon4:c.132-1G>T;ENST00000587723:exon3:c.63-1G>T)	.	.	0.999981760802075	0.938
18	32428260	C	A	18	34848296	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032978:exon13:c.C1257A:p.C419X;DTNA:NM_001390:exon13:c.C1266A:p.C422X;DTNA:NM_001198942:exon7:c.C393A:p.C131X;DTNA:NM_001391:exon13:c.C1266A:p.C422X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon13:c.C1257A:p.C419X;ENSG00000134769:ENST00000444659:exon13:c.C1266A:p.C422X;ENSG00000134769:ENST00000269191:exon13:c.C1266A:p.C422X;ENSG00000134769:ENST00000399113:exon13:c.C1266A:p.C422X;ENSG00000134769:ENST00000269190:exon16:c.C1269A:p.C423X;ENSG00000134769:ENST00000269192:exon7:c.C393A:p.C131X;	2.99297698079683E-5	0.176
18	32428260	C	G	18	34848296	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.C1095G:p.S365R;DTNA:NM_032978:exon13:c.C1257G:p.C419W;DTNA:NM_001390:exon13:c.C1266G:p.C422W;DTNA:NM_001198938:exon12:c.C1086G:p.S362R;DTNA:NM_001198943:exon4:c.C336G:p.S112R;DTNA:NM_001198942:exon7:c.C393G:p.C131W;DTNA:NM_001391:exon13:c.C1266G:p.C422W;DTNA:NM_032981:exon4:c.C132G:p.S44R;DTNA:NM_001198940:exon12:c.C1086G:p.S362R;DTNA:NM_001198939:exon12:c.C1086G:p.S362R;DTNA:NM_001198941:exon11:c.C1086G:p.S362R;DTNA:NM_032975:exon13:c.C1095G:p.S365R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.C1257G:p.C419W;ENSG00000134769:ENST00000598334:exon12:c.C1086G:p.S362R;ENSG00000134769:ENST00000595022:exon12:c.C1086G:p.S362R;ENSG00000134769:ENST00000444659:exon13:c.C1266G:p.C422W;ENSG00000134769:ENST00000269191:exon13:c.C1266G:p.C422W;ENSG00000134769:ENST00000283365:exon13:c.C1095G:p.S365R;ENSG00000134769:ENST00000399113:exon13:c.C1266G:p.C422W;ENSG00000134769:ENST00000599844:exon4:c.C132G:p.S44R;ENSG00000134769:ENST00000269190:exon16:c.C1269G:p.C423W;ENSG00000134769:ENST00000399121:exon12:c.C1086G:p.S362R;ENSG00000134769:ENST00000587723:exon3:c.C63G:p.S21R;ENSG00000134769:ENST00000269192:exon7:c.C393G:p.C131W;ENSG00000134769:ENST00000597599:exon11:c.C1086G:p.S362R;ENSG00000134769:ENST00000597674:exon4:c.C132G:p.S44R;ENSG00000134769:ENST00000598774:exon12:c.C1095G:p.S365R;ENSG00000134769:ENST00000598142:exon12:c.C1095G:p.S365R;ENSG00000134769:ENST00000601125:exon4:c.C132G:p.S44R;	4.5901896605512E-5	0.124
18	32428260	C	T	18	34848296	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon13:c.C1095T:p.S365S;DTNA:NM_032978:exon13:c.C1257T:p.C419C;DTNA:NM_001390:exon13:c.C1266T:p.C422C;DTNA:NM_001198938:exon12:c.C1086T:p.S362S;DTNA:NM_001198943:exon4:c.C336T:p.S112S;DTNA:NM_001198942:exon7:c.C393T:p.C131C;DTNA:NM_001198944:exon5:c.C222T:p.R74R;DTNA:NM_001391:exon13:c.C1266T:p.C422C;DTNA:NM_032981:exon4:c.C132T:p.S44S;DTNA:NM_001198940:exon12:c.C1086T:p.S362S;DTNA:NM_001198939:exon12:c.C1086T:p.S362S;DTNA:NM_001198941:exon11:c.C1086T:p.S362S;DTNA:NM_032980:exon5:c.C210T:p.G70G;DTNA:NM_032975:exon13:c.C1095T:p.S365S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.C1257T:p.C419C;ENSG00000134769:ENST00000399097:exon13:c.C210T:p.G70G;ENSG00000134769:ENST00000598334:exon12:c.C1086T:p.S362S;ENSG00000134769:ENST00000595022:exon12:c.C1086T:p.S362S;ENSG00000134769:ENST00000444659:exon13:c.C1266T:p.C422C;ENSG00000134769:ENST00000269191:exon13:c.C1266T:p.C422C;ENSG00000134769:ENST00000283365:exon13:c.C1095T:p.S365S;ENSG00000134769:ENST00000399113:exon13:c.C1266T:p.C422C;ENSG00000134769:ENST00000599844:exon4:c.C132T:p.S44S;ENSG00000134769:ENST00000556414:exon5:c.C222T:p.R74R;ENSG00000134769:ENST00000269190:exon16:c.C1269T:p.C423C;ENSG00000134769:ENST00000399121:exon12:c.C1086T:p.S362S;ENSG00000134769:ENST00000587723:exon3:c.C63T:p.S21S;ENSG00000134769:ENST00000269192:exon7:c.C393T:p.C131C;ENSG00000134769:ENST00000597599:exon11:c.C1086T:p.S362S;ENSG00000134769:ENST00000597674:exon4:c.C132T:p.S44S;ENSG00000134769:ENST00000591182:exon5:c.C210T:p.G70G;ENSG00000134769:ENST00000598774:exon12:c.C1095T:p.S365S;ENSG00000134769:ENST00000598142:exon12:c.C1095T:p.S365S;ENSG00000134769:ENST00000601125:exon4:c.C132T:p.S44S;	2.32552351343437E-5	0.012
18	32428261	A	C	18	34848297	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.A1096C:p.M366L;DTNA:NM_032978:exon13:c.A1258C:p.M420L;DTNA:NM_001390:exon13:c.A1267C:p.M423L;DTNA:NM_001198938:exon12:c.A1087C:p.M363L;DTNA:NM_001198943:exon4:c.A337C:p.M113L;DTNA:NM_001198942:exon7:c.A394C:p.M132L;DTNA:NM_001198944:exon5:c.A223C:p.M75L;DTNA:NM_001391:exon13:c.A1267C:p.M423L;DTNA:NM_032981:exon4:c.A133C:p.M45L;DTNA:NM_001198940:exon12:c.A1087C:p.M363L;DTNA:NM_001198939:exon12:c.A1087C:p.M363L;DTNA:NM_001198941:exon11:c.A1087C:p.M363L;DTNA:NM_032980:exon5:c.A211C:p.M71L;DTNA:NM_032975:exon13:c.A1096C:p.M366L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.A1258C:p.M420L;ENSG00000134769:ENST00000399097:exon13:c.A211C:p.M71L;ENSG00000134769:ENST00000598334:exon12:c.A1087C:p.M363L;ENSG00000134769:ENST00000595022:exon12:c.A1087C:p.M363L;ENSG00000134769:ENST00000444659:exon13:c.A1267C:p.M423L;ENSG00000134769:ENST00000269191:exon13:c.A1267C:p.M423L;ENSG00000134769:ENST00000283365:exon13:c.A1096C:p.M366L;ENSG00000134769:ENST00000399113:exon13:c.A1267C:p.M423L;ENSG00000134769:ENST00000599844:exon4:c.A133C:p.M45L;ENSG00000134769:ENST00000556414:exon5:c.A223C:p.M75L;ENSG00000134769:ENST00000269190:exon16:c.A1270C:p.M424L;ENSG00000134769:ENST00000399121:exon12:c.A1087C:p.M363L;ENSG00000134769:ENST00000587723:exon3:c.A64C:p.M22L;ENSG00000134769:ENST00000269192:exon7:c.A394C:p.M132L;ENSG00000134769:ENST00000597599:exon11:c.A1087C:p.M363L;ENSG00000134769:ENST00000597674:exon4:c.A133C:p.M45L;ENSG00000134769:ENST00000591182:exon5:c.A211C:p.M71L;ENSG00000134769:ENST00000598774:exon12:c.A1096C:p.M366L;ENSG00000134769:ENST00000598142:exon12:c.A1096C:p.M366L;ENSG00000134769:ENST00000601125:exon4:c.A133C:p.M45L;	5.96129558117715E-4	0.028
18	32428261	A	G	18	34848297	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.A1096G:p.M366V;DTNA:NM_032978:exon13:c.A1258G:p.M420V;DTNA:NM_001390:exon13:c.A1267G:p.M423V;DTNA:NM_001198938:exon12:c.A1087G:p.M363V;DTNA:NM_001198943:exon4:c.A337G:p.M113V;DTNA:NM_001198942:exon7:c.A394G:p.M132V;DTNA:NM_001198944:exon5:c.A223G:p.M75V;DTNA:NM_001391:exon13:c.A1267G:p.M423V;DTNA:NM_032981:exon4:c.A133G:p.M45V;DTNA:NM_001198940:exon12:c.A1087G:p.M363V;DTNA:NM_001198939:exon12:c.A1087G:p.M363V;DTNA:NM_001198941:exon11:c.A1087G:p.M363V;DTNA:NM_032980:exon5:c.A211G:p.M71V;DTNA:NM_032975:exon13:c.A1096G:p.M366V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.A1258G:p.M420V;ENSG00000134769:ENST00000399097:exon13:c.A211G:p.M71V;ENSG00000134769:ENST00000598334:exon12:c.A1087G:p.M363V;ENSG00000134769:ENST00000595022:exon12:c.A1087G:p.M363V;ENSG00000134769:ENST00000444659:exon13:c.A1267G:p.M423V;ENSG00000134769:ENST00000269191:exon13:c.A1267G:p.M423V;ENSG00000134769:ENST00000283365:exon13:c.A1096G:p.M366V;ENSG00000134769:ENST00000399113:exon13:c.A1267G:p.M423V;ENSG00000134769:ENST00000599844:exon4:c.A133G:p.M45V;ENSG00000134769:ENST00000556414:exon5:c.A223G:p.M75V;ENSG00000134769:ENST00000269190:exon16:c.A1270G:p.M424V;ENSG00000134769:ENST00000399121:exon12:c.A1087G:p.M363V;ENSG00000134769:ENST00000587723:exon3:c.A64G:p.M22V;ENSG00000134769:ENST00000269192:exon7:c.A394G:p.M132V;ENSG00000134769:ENST00000597599:exon11:c.A1087G:p.M363V;ENSG00000134769:ENST00000597674:exon4:c.A133G:p.M45V;ENSG00000134769:ENST00000591182:exon5:c.A211G:p.M71V;ENSG00000134769:ENST00000598774:exon12:c.A1096G:p.M366V;ENSG00000134769:ENST00000598142:exon12:c.A1096G:p.M366V;ENSG00000134769:ENST00000601125:exon4:c.A133G:p.M45V;	4.52895060606852E-4	0.022
18	32428261	A	T	18	34848297	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.A1096T:p.M366L;DTNA:NM_032978:exon13:c.A1258T:p.M420L;DTNA:NM_001390:exon13:c.A1267T:p.M423L;DTNA:NM_001198938:exon12:c.A1087T:p.M363L;DTNA:NM_001198943:exon4:c.A337T:p.M113L;DTNA:NM_001198942:exon7:c.A394T:p.M132L;DTNA:NM_001198944:exon5:c.A223T:p.M75L;DTNA:NM_001391:exon13:c.A1267T:p.M423L;DTNA:NM_032981:exon4:c.A133T:p.M45L;DTNA:NM_001198940:exon12:c.A1087T:p.M363L;DTNA:NM_001198939:exon12:c.A1087T:p.M363L;DTNA:NM_001198941:exon11:c.A1087T:p.M363L;DTNA:NM_032980:exon5:c.A211T:p.M71L;DTNA:NM_032975:exon13:c.A1096T:p.M366L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.A1258T:p.M420L;ENSG00000134769:ENST00000399097:exon13:c.A211T:p.M71L;ENSG00000134769:ENST00000598334:exon12:c.A1087T:p.M363L;ENSG00000134769:ENST00000595022:exon12:c.A1087T:p.M363L;ENSG00000134769:ENST00000444659:exon13:c.A1267T:p.M423L;ENSG00000134769:ENST00000269191:exon13:c.A1267T:p.M423L;ENSG00000134769:ENST00000283365:exon13:c.A1096T:p.M366L;ENSG00000134769:ENST00000399113:exon13:c.A1267T:p.M423L;ENSG00000134769:ENST00000599844:exon4:c.A133T:p.M45L;ENSG00000134769:ENST00000556414:exon5:c.A223T:p.M75L;ENSG00000134769:ENST00000269190:exon16:c.A1270T:p.M424L;ENSG00000134769:ENST00000399121:exon12:c.A1087T:p.M363L;ENSG00000134769:ENST00000587723:exon3:c.A64T:p.M22L;ENSG00000134769:ENST00000269192:exon7:c.A394T:p.M132L;ENSG00000134769:ENST00000597599:exon11:c.A1087T:p.M363L;ENSG00000134769:ENST00000597674:exon4:c.A133T:p.M45L;ENSG00000134769:ENST00000591182:exon5:c.A211T:p.M71L;ENSG00000134769:ENST00000598774:exon12:c.A1096T:p.M366L;ENSG00000134769:ENST00000598142:exon12:c.A1096T:p.M366L;ENSG00000134769:ENST00000601125:exon4:c.A133T:p.M45L;	5.07435973425873E-4	0.012
18	32428345	T	A	18	34848381	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.T1180A:p.S394T;DTNA:NM_032978:exon13:c.T1342A:p.S448T;DTNA:NM_001390:exon13:c.T1351A:p.S451T;DTNA:NM_001198938:exon12:c.T1171A:p.S391T;DTNA:NM_001198943:exon4:c.T421A:p.S141T;DTNA:NM_001198942:exon7:c.T478A:p.S160T;DTNA:NM_001198944:exon5:c.T307A:p.S103T;DTNA:NM_001391:exon13:c.T1351A:p.S451T;DTNA:NM_032981:exon4:c.T217A:p.S73T;DTNA:NM_001198940:exon12:c.T1171A:p.S391T;DTNA:NM_001198939:exon12:c.T1171A:p.S391T;DTNA:NM_001198941:exon11:c.T1171A:p.S391T;DTNA:NM_032980:exon5:c.T295A:p.S99T;DTNA:NM_032975:exon13:c.T1180A:p.S394T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.T1342A:p.S448T;ENSG00000134769:ENST00000399097:exon13:c.T295A:p.S99T;ENSG00000134769:ENST00000598334:exon12:c.T1171A:p.S391T;ENSG00000134769:ENST00000595022:exon12:c.T1171A:p.S391T;ENSG00000134769:ENST00000444659:exon13:c.T1351A:p.S451T;ENSG00000134769:ENST00000269191:exon13:c.T1351A:p.S451T;ENSG00000134769:ENST00000283365:exon13:c.T1180A:p.S394T;ENSG00000134769:ENST00000399113:exon13:c.T1351A:p.S451T;ENSG00000134769:ENST00000599844:exon4:c.T217A:p.S73T;ENSG00000134769:ENST00000556414:exon5:c.T307A:p.S103T;ENSG00000134769:ENST00000269190:exon16:c.T1354A:p.S452T;ENSG00000134769:ENST00000399121:exon12:c.T1171A:p.S391T;ENSG00000134769:ENST00000587723:exon3:c.T148A:p.S50T;ENSG00000134769:ENST00000269192:exon7:c.T478A:p.S160T;ENSG00000134769:ENST00000597599:exon11:c.T1171A:p.S391T;ENSG00000134769:ENST00000597674:exon4:c.T217A:p.S73T;ENSG00000134769:ENST00000591182:exon5:c.T295A:p.S99T;ENSG00000134769:ENST00000598774:exon12:c.T1180A:p.S394T;ENSG00000134769:ENST00000598142:exon12:c.T1180A:p.S394T;ENSG00000134769:ENST00000601125:exon4:c.T217A:p.S73T;	0.502918954853387	0.486
18	32428345	T	C	18	34848381	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.T1180C:p.S394P;DTNA:NM_032978:exon13:c.T1342C:p.S448P;DTNA:NM_001390:exon13:c.T1351C:p.S451P;DTNA:NM_001198938:exon12:c.T1171C:p.S391P;DTNA:NM_001198943:exon4:c.T421C:p.S141P;DTNA:NM_001198942:exon7:c.T478C:p.S160P;DTNA:NM_001198944:exon5:c.T307C:p.S103P;DTNA:NM_001391:exon13:c.T1351C:p.S451P;DTNA:NM_032981:exon4:c.T217C:p.S73P;DTNA:NM_001198940:exon12:c.T1171C:p.S391P;DTNA:NM_001198939:exon12:c.T1171C:p.S391P;DTNA:NM_001198941:exon11:c.T1171C:p.S391P;DTNA:NM_032980:exon5:c.T295C:p.S99P;DTNA:NM_032975:exon13:c.T1180C:p.S394P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.T1342C:p.S448P;ENSG00000134769:ENST00000399097:exon13:c.T295C:p.S99P;ENSG00000134769:ENST00000598334:exon12:c.T1171C:p.S391P;ENSG00000134769:ENST00000595022:exon12:c.T1171C:p.S391P;ENSG00000134769:ENST00000444659:exon13:c.T1351C:p.S451P;ENSG00000134769:ENST00000269191:exon13:c.T1351C:p.S451P;ENSG00000134769:ENST00000283365:exon13:c.T1180C:p.S394P;ENSG00000134769:ENST00000399113:exon13:c.T1351C:p.S451P;ENSG00000134769:ENST00000599844:exon4:c.T217C:p.S73P;ENSG00000134769:ENST00000556414:exon5:c.T307C:p.S103P;ENSG00000134769:ENST00000269190:exon16:c.T1354C:p.S452P;ENSG00000134769:ENST00000399121:exon12:c.T1171C:p.S391P;ENSG00000134769:ENST00000587723:exon3:c.T148C:p.S50P;ENSG00000134769:ENST00000269192:exon7:c.T478C:p.S160P;ENSG00000134769:ENST00000597599:exon11:c.T1171C:p.S391P;ENSG00000134769:ENST00000597674:exon4:c.T217C:p.S73P;ENSG00000134769:ENST00000591182:exon5:c.T295C:p.S99P;ENSG00000134769:ENST00000598774:exon12:c.T1180C:p.S394P;ENSG00000134769:ENST00000598142:exon12:c.T1180C:p.S394P;ENSG00000134769:ENST00000601125:exon4:c.T217C:p.S73P;	0.525970704128804	0.44
18	32428345	T	G	18	34848381	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.T1180G:p.S394A;DTNA:NM_032978:exon13:c.T1342G:p.S448A;DTNA:NM_001390:exon13:c.T1351G:p.S451A;DTNA:NM_001198938:exon12:c.T1171G:p.S391A;DTNA:NM_001198943:exon4:c.T421G:p.S141A;DTNA:NM_001198942:exon7:c.T478G:p.S160A;DTNA:NM_001198944:exon5:c.T307G:p.S103A;DTNA:NM_001391:exon13:c.T1351G:p.S451A;DTNA:NM_032981:exon4:c.T217G:p.S73A;DTNA:NM_001198940:exon12:c.T1171G:p.S391A;DTNA:NM_001198939:exon12:c.T1171G:p.S391A;DTNA:NM_001198941:exon11:c.T1171G:p.S391A;DTNA:NM_032980:exon5:c.T295G:p.S99A;DTNA:NM_032975:exon13:c.T1180G:p.S394A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.T1342G:p.S448A;ENSG00000134769:ENST00000399097:exon13:c.T295G:p.S99A;ENSG00000134769:ENST00000598334:exon12:c.T1171G:p.S391A;ENSG00000134769:ENST00000595022:exon12:c.T1171G:p.S391A;ENSG00000134769:ENST00000444659:exon13:c.T1351G:p.S451A;ENSG00000134769:ENST00000269191:exon13:c.T1351G:p.S451A;ENSG00000134769:ENST00000283365:exon13:c.T1180G:p.S394A;ENSG00000134769:ENST00000399113:exon13:c.T1351G:p.S451A;ENSG00000134769:ENST00000599844:exon4:c.T217G:p.S73A;ENSG00000134769:ENST00000556414:exon5:c.T307G:p.S103A;ENSG00000134769:ENST00000269190:exon16:c.T1354G:p.S452A;ENSG00000134769:ENST00000399121:exon12:c.T1171G:p.S391A;ENSG00000134769:ENST00000587723:exon3:c.T148G:p.S50A;ENSG00000134769:ENST00000269192:exon7:c.T478G:p.S160A;ENSG00000134769:ENST00000597599:exon11:c.T1171G:p.S391A;ENSG00000134769:ENST00000597674:exon4:c.T217G:p.S73A;ENSG00000134769:ENST00000591182:exon5:c.T295G:p.S99A;ENSG00000134769:ENST00000598774:exon12:c.T1180G:p.S394A;ENSG00000134769:ENST00000598142:exon12:c.T1180G:p.S394A;ENSG00000134769:ENST00000601125:exon4:c.T217G:p.S73A;	0.673916574761632	0.688
18	32428346	C	A	18	34848382	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.C1181A:p.S394Y;DTNA:NM_032978:exon13:c.C1343A:p.S448Y;DTNA:NM_001390:exon13:c.C1352A:p.S451Y;DTNA:NM_001198938:exon12:c.C1172A:p.S391Y;DTNA:NM_001198943:exon4:c.C422A:p.S141Y;DTNA:NM_001198942:exon7:c.C479A:p.S160Y;DTNA:NM_001198944:exon5:c.C308A:p.S103Y;DTNA:NM_001391:exon13:c.C1352A:p.S451Y;DTNA:NM_032981:exon4:c.C218A:p.S73Y;DTNA:NM_001198940:exon12:c.C1172A:p.S391Y;DTNA:NM_001198939:exon12:c.C1172A:p.S391Y;DTNA:NM_001198941:exon11:c.C1172A:p.S391Y;DTNA:NM_032980:exon5:c.C296A:p.S99Y;DTNA:NM_032975:exon13:c.C1181A:p.S394Y;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.C1343A:p.S448Y;ENSG00000134769:ENST00000399097:exon13:c.C296A:p.S99Y;ENSG00000134769:ENST00000598334:exon12:c.C1172A:p.S391Y;ENSG00000134769:ENST00000595022:exon12:c.C1172A:p.S391Y;ENSG00000134769:ENST00000444659:exon13:c.C1352A:p.S451Y;ENSG00000134769:ENST00000269191:exon13:c.C1352A:p.S451Y;ENSG00000134769:ENST00000283365:exon13:c.C1181A:p.S394Y;ENSG00000134769:ENST00000399113:exon13:c.C1352A:p.S451Y;ENSG00000134769:ENST00000599844:exon4:c.C218A:p.S73Y;ENSG00000134769:ENST00000556414:exon5:c.C308A:p.S103Y;ENSG00000134769:ENST00000269190:exon16:c.C1355A:p.S452Y;ENSG00000134769:ENST00000399121:exon12:c.C1172A:p.S391Y;ENSG00000134769:ENST00000587723:exon3:c.C149A:p.S50Y;ENSG00000134769:ENST00000269192:exon7:c.C479A:p.S160Y;ENSG00000134769:ENST00000597599:exon11:c.C1172A:p.S391Y;ENSG00000134769:ENST00000597674:exon4:c.C218A:p.S73Y;ENSG00000134769:ENST00000591182:exon5:c.C296A:p.S99Y;ENSG00000134769:ENST00000598774:exon12:c.C1181A:p.S394Y;ENSG00000134769:ENST00000598142:exon12:c.C1181A:p.S394Y;ENSG00000134769:ENST00000601125:exon4:c.C218A:p.S73Y;	0.956509932561154	0.71
18	32428346	C	G	18	34848382	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.C1181G:p.S394C;DTNA:NM_032978:exon13:c.C1343G:p.S448C;DTNA:NM_001390:exon13:c.C1352G:p.S451C;DTNA:NM_001198938:exon12:c.C1172G:p.S391C;DTNA:NM_001198943:exon4:c.C422G:p.S141C;DTNA:NM_001198942:exon7:c.C479G:p.S160C;DTNA:NM_001198944:exon5:c.C308G:p.S103C;DTNA:NM_001391:exon13:c.C1352G:p.S451C;DTNA:NM_032981:exon4:c.C218G:p.S73C;DTNA:NM_001198940:exon12:c.C1172G:p.S391C;DTNA:NM_001198939:exon12:c.C1172G:p.S391C;DTNA:NM_001198941:exon11:c.C1172G:p.S391C;DTNA:NM_032980:exon5:c.C296G:p.S99C;DTNA:NM_032975:exon13:c.C1181G:p.S394C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.C1343G:p.S448C;ENSG00000134769:ENST00000399097:exon13:c.C296G:p.S99C;ENSG00000134769:ENST00000598334:exon12:c.C1172G:p.S391C;ENSG00000134769:ENST00000595022:exon12:c.C1172G:p.S391C;ENSG00000134769:ENST00000444659:exon13:c.C1352G:p.S451C;ENSG00000134769:ENST00000269191:exon13:c.C1352G:p.S451C;ENSG00000134769:ENST00000283365:exon13:c.C1181G:p.S394C;ENSG00000134769:ENST00000399113:exon13:c.C1352G:p.S451C;ENSG00000134769:ENST00000599844:exon4:c.C218G:p.S73C;ENSG00000134769:ENST00000556414:exon5:c.C308G:p.S103C;ENSG00000134769:ENST00000269190:exon16:c.C1355G:p.S452C;ENSG00000134769:ENST00000399121:exon12:c.C1172G:p.S391C;ENSG00000134769:ENST00000587723:exon3:c.C149G:p.S50C;ENSG00000134769:ENST00000269192:exon7:c.C479G:p.S160C;ENSG00000134769:ENST00000597599:exon11:c.C1172G:p.S391C;ENSG00000134769:ENST00000597674:exon4:c.C218G:p.S73C;ENSG00000134769:ENST00000591182:exon5:c.C296G:p.S99C;ENSG00000134769:ENST00000598774:exon12:c.C1181G:p.S394C;ENSG00000134769:ENST00000598142:exon12:c.C1181G:p.S394C;ENSG00000134769:ENST00000601125:exon4:c.C218G:p.S73C;	0.985404490087198	0.87
18	32428346	C	T	18	34848382	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon13:c.C1181T:p.S394F;DTNA:NM_032978:exon13:c.C1343T:p.S448F;DTNA:NM_001390:exon13:c.C1352T:p.S451F;DTNA:NM_001198938:exon12:c.C1172T:p.S391F;DTNA:NM_001198943:exon4:c.C422T:p.S141F;DTNA:NM_001198942:exon7:c.C479T:p.S160F;DTNA:NM_001198944:exon5:c.C308T:p.S103F;DTNA:NM_001391:exon13:c.C1352T:p.S451F;DTNA:NM_032981:exon4:c.C218T:p.S73F;DTNA:NM_001198940:exon12:c.C1172T:p.S391F;DTNA:NM_001198939:exon12:c.C1172T:p.S391F;DTNA:NM_001198941:exon11:c.C1172T:p.S391F;DTNA:NM_032980:exon5:c.C296T:p.S99F;DTNA:NM_032975:exon13:c.C1181T:p.S394F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.C1343T:p.S448F;ENSG00000134769:ENST00000399097:exon13:c.C296T:p.S99F;ENSG00000134769:ENST00000598334:exon12:c.C1172T:p.S391F;ENSG00000134769:ENST00000595022:exon12:c.C1172T:p.S391F;ENSG00000134769:ENST00000444659:exon13:c.C1352T:p.S451F;ENSG00000134769:ENST00000269191:exon13:c.C1352T:p.S451F;ENSG00000134769:ENST00000283365:exon13:c.C1181T:p.S394F;ENSG00000134769:ENST00000399113:exon13:c.C1352T:p.S451F;ENSG00000134769:ENST00000599844:exon4:c.C218T:p.S73F;ENSG00000134769:ENST00000556414:exon5:c.C308T:p.S103F;ENSG00000134769:ENST00000269190:exon16:c.C1355T:p.S452F;ENSG00000134769:ENST00000399121:exon12:c.C1172T:p.S391F;ENSG00000134769:ENST00000587723:exon3:c.C149T:p.S50F;ENSG00000134769:ENST00000269192:exon7:c.C479T:p.S160F;ENSG00000134769:ENST00000597599:exon11:c.C1172T:p.S391F;ENSG00000134769:ENST00000597674:exon4:c.C218T:p.S73F;ENSG00000134769:ENST00000591182:exon5:c.C296T:p.S99F;ENSG00000134769:ENST00000598774:exon12:c.C1181T:p.S394F;ENSG00000134769:ENST00000598142:exon12:c.C1181T:p.S394F;ENSG00000134769:ENST00000601125:exon4:c.C218T:p.S73F;	0.986934661581024	0.91
18	32428347	T	A	18	34848383	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon13:c.T1182A:p.S394S;DTNA:NM_032978:exon13:c.T1344A:p.S448S;DTNA:NM_001390:exon13:c.T1353A:p.S451S;DTNA:NM_001198938:exon12:c.T1173A:p.S391S;DTNA:NM_001198943:exon4:c.T423A:p.S141S;DTNA:NM_001198942:exon7:c.T480A:p.S160S;DTNA:NM_001198944:exon5:c.T309A:p.S103S;DTNA:NM_001391:exon13:c.T1353A:p.S451S;DTNA:NM_032981:exon4:c.T219A:p.S73S;DTNA:NM_001198940:exon12:c.T1173A:p.S391S;DTNA:NM_001198939:exon12:c.T1173A:p.S391S;DTNA:NM_001198941:exon11:c.T1173A:p.S391S;DTNA:NM_032980:exon5:c.T297A:p.S99S;DTNA:NM_032975:exon13:c.T1182A:p.S394S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.T1344A:p.S448S;ENSG00000134769:ENST00000399097:exon13:c.T297A:p.S99S;ENSG00000134769:ENST00000598334:exon12:c.T1173A:p.S391S;ENSG00000134769:ENST00000595022:exon12:c.T1173A:p.S391S;ENSG00000134769:ENST00000444659:exon13:c.T1353A:p.S451S;ENSG00000134769:ENST00000269191:exon13:c.T1353A:p.S451S;ENSG00000134769:ENST00000283365:exon13:c.T1182A:p.S394S;ENSG00000134769:ENST00000399113:exon13:c.T1353A:p.S451S;ENSG00000134769:ENST00000599844:exon4:c.T219A:p.S73S;ENSG00000134769:ENST00000556414:exon5:c.T309A:p.S103S;ENSG00000134769:ENST00000269190:exon16:c.T1356A:p.S452S;ENSG00000134769:ENST00000399121:exon12:c.T1173A:p.S391S;ENSG00000134769:ENST00000587723:exon3:c.T150A:p.S50S;ENSG00000134769:ENST00000269192:exon7:c.T480A:p.S160S;ENSG00000134769:ENST00000597599:exon11:c.T1173A:p.S391S;ENSG00000134769:ENST00000597674:exon4:c.T219A:p.S73S;ENSG00000134769:ENST00000591182:exon5:c.T297A:p.S99S;ENSG00000134769:ENST00000598774:exon12:c.T1182A:p.S394S;ENSG00000134769:ENST00000598142:exon12:c.T1182A:p.S394S;ENSG00000134769:ENST00000601125:exon4:c.T219A:p.S73S;	2.72954374275343E-4	0.058
18	32428347	T	C	18	34848383	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon13:c.T1182C:p.S394S;DTNA:NM_032978:exon13:c.T1344C:p.S448S;DTNA:NM_001390:exon13:c.T1353C:p.S451S;DTNA:NM_001198938:exon12:c.T1173C:p.S391S;DTNA:NM_001198943:exon4:c.T423C:p.S141S;DTNA:NM_001198942:exon7:c.T480C:p.S160S;DTNA:NM_001198944:exon5:c.T309C:p.S103S;DTNA:NM_001391:exon13:c.T1353C:p.S451S;DTNA:NM_032981:exon4:c.T219C:p.S73S;DTNA:NM_001198940:exon12:c.T1173C:p.S391S;DTNA:NM_001198939:exon12:c.T1173C:p.S391S;DTNA:NM_001198941:exon11:c.T1173C:p.S391S;DTNA:NM_032980:exon5:c.T297C:p.S99S;DTNA:NM_032975:exon13:c.T1182C:p.S394S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.T1344C:p.S448S;ENSG00000134769:ENST00000399097:exon13:c.T297C:p.S99S;ENSG00000134769:ENST00000598334:exon12:c.T1173C:p.S391S;ENSG00000134769:ENST00000595022:exon12:c.T1173C:p.S391S;ENSG00000134769:ENST00000444659:exon13:c.T1353C:p.S451S;ENSG00000134769:ENST00000269191:exon13:c.T1353C:p.S451S;ENSG00000134769:ENST00000283365:exon13:c.T1182C:p.S394S;ENSG00000134769:ENST00000399113:exon13:c.T1353C:p.S451S;ENSG00000134769:ENST00000599844:exon4:c.T219C:p.S73S;ENSG00000134769:ENST00000556414:exon5:c.T309C:p.S103S;ENSG00000134769:ENST00000269190:exon16:c.T1356C:p.S452S;ENSG00000134769:ENST00000399121:exon12:c.T1173C:p.S391S;ENSG00000134769:ENST00000587723:exon3:c.T150C:p.S50S;ENSG00000134769:ENST00000269192:exon7:c.T480C:p.S160S;ENSG00000134769:ENST00000597599:exon11:c.T1173C:p.S391S;ENSG00000134769:ENST00000597674:exon4:c.T219C:p.S73S;ENSG00000134769:ENST00000591182:exon5:c.T297C:p.S99S;ENSG00000134769:ENST00000598774:exon12:c.T1182C:p.S394S;ENSG00000134769:ENST00000598142:exon12:c.T1182C:p.S394S;ENSG00000134769:ENST00000601125:exon4:c.T219C:p.S73S;	0.0123506731465702	0.32
18	32428347	T	G	18	34848383	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon13:c.T1182G:p.S394S;DTNA:NM_032978:exon13:c.T1344G:p.S448S;DTNA:NM_001390:exon13:c.T1353G:p.S451S;DTNA:NM_001198938:exon12:c.T1173G:p.S391S;DTNA:NM_001198943:exon4:c.T423G:p.S141S;DTNA:NM_001198942:exon7:c.T480G:p.S160S;DTNA:NM_001198944:exon5:c.T309G:p.S103S;DTNA:NM_001391:exon13:c.T1353G:p.S451S;DTNA:NM_032981:exon4:c.T219G:p.S73S;DTNA:NM_001198940:exon12:c.T1173G:p.S391S;DTNA:NM_001198939:exon12:c.T1173G:p.S391S;DTNA:NM_001198941:exon11:c.T1173G:p.S391S;DTNA:NM_032980:exon5:c.T297G:p.S99S;DTNA:NM_032975:exon13:c.T1182G:p.S394S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon13:c.T1344G:p.S448S;ENSG00000134769:ENST00000399097:exon13:c.T297G:p.S99S;ENSG00000134769:ENST00000598334:exon12:c.T1173G:p.S391S;ENSG00000134769:ENST00000595022:exon12:c.T1173G:p.S391S;ENSG00000134769:ENST00000444659:exon13:c.T1353G:p.S451S;ENSG00000134769:ENST00000269191:exon13:c.T1353G:p.S451S;ENSG00000134769:ENST00000283365:exon13:c.T1182G:p.S394S;ENSG00000134769:ENST00000399113:exon13:c.T1353G:p.S451S;ENSG00000134769:ENST00000599844:exon4:c.T219G:p.S73S;ENSG00000134769:ENST00000556414:exon5:c.T309G:p.S103S;ENSG00000134769:ENST00000269190:exon16:c.T1356G:p.S452S;ENSG00000134769:ENST00000399121:exon12:c.T1173G:p.S391S;ENSG00000134769:ENST00000587723:exon3:c.T150G:p.S50S;ENSG00000134769:ENST00000269192:exon7:c.T480G:p.S160S;ENSG00000134769:ENST00000597599:exon11:c.T1173G:p.S391S;ENSG00000134769:ENST00000597674:exon4:c.T219G:p.S73S;ENSG00000134769:ENST00000591182:exon5:c.T297G:p.S99S;ENSG00000134769:ENST00000598774:exon12:c.T1182G:p.S394S;ENSG00000134769:ENST00000598142:exon12:c.T1182G:p.S394S;ENSG00000134769:ENST00000601125:exon4:c.T219G:p.S73S;	7.37691115532512E-4	0.098
18	32428348	G	A	18	34848384	y	y	splicing	DTNA(NM_032975:exon13:c.1182+1G>A;NM_032979:exon13:c.1182+1G>A;NM_001198940:exon12:c.1173+1G>A;NM_001198939:exon12:c.1173+1G>A;NM_001198938:exon12:c.1173+1G>A;NM_001198941:exon11:c.1173+1G>A;NM_032978:exon13:c.1344+1G>A;NM_001391:exon13:c.1353+1G>A;NM_001390:exon13:c.1353+1G>A;NM_001198943:exon4:c.423+1G>A;NM_001198944:exon5:c.309+1G>A;NM_001198942:exon7:c.480+1G>A;NM_032981:exon4:c.219+1G>A;NM_032980:exon5:c.297+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1182+1G>A;ENST00000598334:exon12:c.1173+1G>A;ENST00000399121:exon12:c.1173+1G>A;ENST00000399097:exon13:c.297+1G>A;ENST00000269190:exon16:c.1356+1G>A;ENST00000595022:exon12:c.1173+1G>A;ENST00000598142:exon12:c.1182+1G>A;ENST00000598774:exon12:c.1182+1G>A;ENST00000348997:exon13:c.1344+1G>A;ENST00000597599:exon11:c.1173+1G>A;ENST00000269191:exon13:c.1353+1G>A;ENST00000444659:exon13:c.1353+1G>A;ENST00000399113:exon13:c.1353+1G>A;ENST00000601125:exon4:c.219+1G>A;ENST00000269192:exon7:c.480+1G>A;ENST00000591182:exon5:c.297+1G>A;ENST00000556414:exon5:c.309+1G>A;ENST00000597674:exon4:c.219+1G>A;ENST00000599844:exon4:c.219+1G>A;ENST00000587723:exon3:c.150+1G>A)	.	.	0.999981760802075	0.938
18	32428348	G	C	18	34848384	y	y	splicing	DTNA(NM_032975:exon13:c.1182+1G>C;NM_032979:exon13:c.1182+1G>C;NM_001198940:exon12:c.1173+1G>C;NM_001198939:exon12:c.1173+1G>C;NM_001198938:exon12:c.1173+1G>C;NM_001198941:exon11:c.1173+1G>C;NM_032978:exon13:c.1344+1G>C;NM_001391:exon13:c.1353+1G>C;NM_001390:exon13:c.1353+1G>C;NM_001198943:exon4:c.423+1G>C;NM_001198944:exon5:c.309+1G>C;NM_001198942:exon7:c.480+1G>C;NM_032981:exon4:c.219+1G>C;NM_032980:exon5:c.297+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1182+1G>C;ENST00000598334:exon12:c.1173+1G>C;ENST00000399121:exon12:c.1173+1G>C;ENST00000399097:exon13:c.297+1G>C;ENST00000269190:exon16:c.1356+1G>C;ENST00000595022:exon12:c.1173+1G>C;ENST00000598142:exon12:c.1182+1G>C;ENST00000598774:exon12:c.1182+1G>C;ENST00000348997:exon13:c.1344+1G>C;ENST00000597599:exon11:c.1173+1G>C;ENST00000269191:exon13:c.1353+1G>C;ENST00000444659:exon13:c.1353+1G>C;ENST00000399113:exon13:c.1353+1G>C;ENST00000601125:exon4:c.219+1G>C;ENST00000269192:exon7:c.480+1G>C;ENST00000591182:exon5:c.297+1G>C;ENST00000556414:exon5:c.309+1G>C;ENST00000597674:exon4:c.219+1G>C;ENST00000599844:exon4:c.219+1G>C;ENST00000587723:exon3:c.150+1G>C)	.	.	0.999981760802075	0.938
18	32428348	G	T	18	34848384	y	y	splicing	DTNA(NM_032975:exon13:c.1182+1G>T;NM_032979:exon13:c.1182+1G>T;NM_001198940:exon12:c.1173+1G>T;NM_001198939:exon12:c.1173+1G>T;NM_001198938:exon12:c.1173+1G>T;NM_001198941:exon11:c.1173+1G>T;NM_032978:exon13:c.1344+1G>T;NM_001391:exon13:c.1353+1G>T;NM_001390:exon13:c.1353+1G>T;NM_001198943:exon4:c.423+1G>T;NM_001198944:exon5:c.309+1G>T;NM_001198942:exon7:c.480+1G>T;NM_032981:exon4:c.219+1G>T;NM_032980:exon5:c.297+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1182+1G>T;ENST00000598334:exon12:c.1173+1G>T;ENST00000399121:exon12:c.1173+1G>T;ENST00000399097:exon13:c.297+1G>T;ENST00000269190:exon16:c.1356+1G>T;ENST00000595022:exon12:c.1173+1G>T;ENST00000598142:exon12:c.1182+1G>T;ENST00000598774:exon12:c.1182+1G>T;ENST00000348997:exon13:c.1344+1G>T;ENST00000597599:exon11:c.1173+1G>T;ENST00000269191:exon13:c.1353+1G>T;ENST00000444659:exon13:c.1353+1G>T;ENST00000399113:exon13:c.1353+1G>T;ENST00000601125:exon4:c.219+1G>T;ENST00000269192:exon7:c.480+1G>T;ENST00000591182:exon5:c.297+1G>T;ENST00000556414:exon5:c.309+1G>T;ENST00000597674:exon4:c.219+1G>T;ENST00000599844:exon4:c.219+1G>T;ENST00000587723:exon3:c.150+1G>T)	.	.	0.999981760802075	0.938
18	32428349	T	A	18	34848385	y	y	splicing	DTNA(NM_032975:exon13:c.1182+2T>A;NM_032979:exon13:c.1182+2T>A;NM_001198940:exon12:c.1173+2T>A;NM_001198939:exon12:c.1173+2T>A;NM_001198938:exon12:c.1173+2T>A;NM_001198941:exon11:c.1173+2T>A;NM_032978:exon13:c.1344+2T>A;NM_001391:exon13:c.1353+2T>A;NM_001390:exon13:c.1353+2T>A;NM_001198943:exon4:c.423+2T>A;NM_001198944:exon5:c.309+2T>A;NM_001198942:exon7:c.480+2T>A;NM_032981:exon4:c.219+2T>A;NM_032980:exon5:c.297+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1182+2T>A;ENST00000598334:exon12:c.1173+2T>A;ENST00000399121:exon12:c.1173+2T>A;ENST00000399097:exon13:c.297+2T>A;ENST00000269190:exon16:c.1356+2T>A;ENST00000595022:exon12:c.1173+2T>A;ENST00000598142:exon12:c.1182+2T>A;ENST00000598774:exon12:c.1182+2T>A;ENST00000348997:exon13:c.1344+2T>A;ENST00000597599:exon11:c.1173+2T>A;ENST00000269191:exon13:c.1353+2T>A;ENST00000444659:exon13:c.1353+2T>A;ENST00000399113:exon13:c.1353+2T>A;ENST00000601125:exon4:c.219+2T>A;ENST00000269192:exon7:c.480+2T>A;ENST00000591182:exon5:c.297+2T>A;ENST00000556414:exon5:c.309+2T>A;ENST00000597674:exon4:c.219+2T>A;ENST00000599844:exon4:c.219+2T>A;ENST00000587723:exon3:c.150+2T>A)	.	.	0.999989917668626	0.93
18	32428349	T	C	18	34848385	y	y	splicing	DTNA(NM_032975:exon13:c.1182+2T>C;NM_032979:exon13:c.1182+2T>C;NM_001198940:exon12:c.1173+2T>C;NM_001198939:exon12:c.1173+2T>C;NM_001198938:exon12:c.1173+2T>C;NM_001198941:exon11:c.1173+2T>C;NM_032978:exon13:c.1344+2T>C;NM_001391:exon13:c.1353+2T>C;NM_001390:exon13:c.1353+2T>C;NM_001198943:exon4:c.423+2T>C;NM_001198944:exon5:c.309+2T>C;NM_001198942:exon7:c.480+2T>C;NM_032981:exon4:c.219+2T>C;NM_032980:exon5:c.297+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1182+2T>C;ENST00000598334:exon12:c.1173+2T>C;ENST00000399121:exon12:c.1173+2T>C;ENST00000399097:exon13:c.297+2T>C;ENST00000269190:exon16:c.1356+2T>C;ENST00000595022:exon12:c.1173+2T>C;ENST00000598142:exon12:c.1182+2T>C;ENST00000598774:exon12:c.1182+2T>C;ENST00000348997:exon13:c.1344+2T>C;ENST00000597599:exon11:c.1173+2T>C;ENST00000269191:exon13:c.1353+2T>C;ENST00000444659:exon13:c.1353+2T>C;ENST00000399113:exon13:c.1353+2T>C;ENST00000601125:exon4:c.219+2T>C;ENST00000269192:exon7:c.480+2T>C;ENST00000591182:exon5:c.297+2T>C;ENST00000556414:exon5:c.309+2T>C;ENST00000597674:exon4:c.219+2T>C;ENST00000599844:exon4:c.219+2T>C;ENST00000587723:exon3:c.150+2T>C)	.	.	0.998346925398709	0.778
18	32428349	T	G	18	34848385	y	y	splicing	DTNA(NM_032975:exon13:c.1182+2T>G;NM_032979:exon13:c.1182+2T>G;NM_001198940:exon12:c.1173+2T>G;NM_001198939:exon12:c.1173+2T>G;NM_001198938:exon12:c.1173+2T>G;NM_001198941:exon11:c.1173+2T>G;NM_032978:exon13:c.1344+2T>G;NM_001391:exon13:c.1353+2T>G;NM_001390:exon13:c.1353+2T>G;NM_001198943:exon4:c.423+2T>G;NM_001198944:exon5:c.309+2T>G;NM_001198942:exon7:c.480+2T>G;NM_032981:exon4:c.219+2T>G;NM_032980:exon5:c.297+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon13:c.1182+2T>G;ENST00000598334:exon12:c.1173+2T>G;ENST00000399121:exon12:c.1173+2T>G;ENST00000399097:exon13:c.297+2T>G;ENST00000269190:exon16:c.1356+2T>G;ENST00000595022:exon12:c.1173+2T>G;ENST00000598142:exon12:c.1182+2T>G;ENST00000598774:exon12:c.1182+2T>G;ENST00000348997:exon13:c.1344+2T>G;ENST00000597599:exon11:c.1173+2T>G;ENST00000269191:exon13:c.1353+2T>G;ENST00000444659:exon13:c.1353+2T>G;ENST00000399113:exon13:c.1353+2T>G;ENST00000601125:exon4:c.219+2T>G;ENST00000269192:exon7:c.480+2T>G;ENST00000591182:exon5:c.297+2T>G;ENST00000556414:exon5:c.309+2T>G;ENST00000597674:exon4:c.219+2T>G;ENST00000599844:exon4:c.219+2T>G;ENST00000587723:exon3:c.150+2T>G)	.	.	0.999989917668626	0.93
18	32428350	A	C	18	34848386	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99978029734978	0.98
18	32428350	A	G	18	34848386	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.943354330283717	0.584
18	32428350	A	T	18	34848386	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999905201789056	0.986
18	32428351	A	C	18	34848387	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99909936143185	0.938
18	32428351	A	G	18	34848387	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999411997176854	0.99
18	32428351	A	T	18	34848387	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998022108563452	0.946
18	32428352	G	A	18	34848388	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999933099810108	1.0
18	32428352	G	C	18	34848388	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999951184657654	0.99
18	32428352	G	T	18	34848388	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999931956775077	0.982
18	32428353	T	A	18	34848389	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.994753779820111	0.826
18	32428353	T	C	18	34848389	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998388675032506	0.992
18	32428353	T	G	18	34848389	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.996481198503092	0.916
18	32428354	A	C	18	34848390	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00309057417519938	0.04
18	32428354	A	G	18	34848390	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00232129471141285	0.024
18	32428354	A	T	18	34848390	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00585636344511187	0.046
18	32428355	G	A	18	34848391	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.44424227647009E-4	0.072
18	32428355	G	C	18	34848391	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.44424227647009E-4	0.064
18	32428355	G	T	18	34848391	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.32960644208406E-5	0.002
18	32431783	C	A	18	34851819	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00140265271998813	0.066
18	32431783	C	G	18	34851819	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999939017766464	0.992
18	32431783	C	T	18	34851819	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.52334172433981E-5	0.03
18	32431784	A	C	18	34851820	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.78406055668568E-5	0.004
18	32431784	A	G	18	34851820	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.26227396556296E-6	0.0
18	32431784	A	T	18	34851820	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.88863356375749E-5	0.062
18	32431785	T	A	18	34851821	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.805098861203041	0.63
18	32431785	T	C	18	34851821	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0358975011643799	0.184
18	32431785	T	G	18	34851821	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999954685183527	0.968
18	32431786	A	C	18	34851822	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.26282657477284E-5	0.002
18	32431786	A	G	18	34851822	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.39900459175348E-5	0.002
18	32431786	A	T	18	34851822	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.26282657477284E-5	0.008
18	32431787	T	A	18	34851823	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.716699654014697	0.604
18	32431787	T	C	18	34851823	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.53349901277934E-4	0.092
18	32431787	T	G	18	34851823	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99994028094055	0.988
18	32431788	T	A	18	34851824	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.142468674627431	0.632
18	32431788	T	C	18	34851824	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00100384933696272	0.046
18	32431788	T	G	18	34851824	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.307419731740367	0.518
18	32431789	T	A	18	34851825	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.995496142993617	0.892
18	32431789	T	C	18	34851825	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0162027221538115	0.186
18	32431789	T	G	18	34851825	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.987491068797344	0.858
18	32431790	T	A	18	34851826	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.909413192575834	0.642
18	32431790	T	C	18	34851826	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.020141986634438	0.214
18	32431790	T	G	18	34851826	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.981063092587707	0.706
18	32431791	A	C	18	34851827	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00195455509658064	0.106
18	32431791	A	G	18	34851827	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00149772636056875	0.124
18	32431791	A	T	18	34851827	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.35778457174769E-4	0.024
18	32431792	C	A	18	34851828	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999528398581231	0.912
18	32431792	C	G	18	34851828	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999946047055218	0.902
18	32431792	C	T	18	34851828	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.681201326965568	0.368
18	32431793	A	C	18	34851829	y	y	splicing	DTNA(NM_001198945:exon8:c.604-2A>C;NM_032975:exon14:c.1183-2A>C;NM_032979:exon14:c.1183-2A>C;NM_001198940:exon13:c.1174-2A>C;NM_001198939:exon13:c.1174-2A>C;NM_001198938:exon13:c.1174-2A>C;NM_001198941:exon12:c.1174-2A>C;NM_032978:exon14:c.1345-2A>C;NM_001391:exon14:c.1354-2A>C;NM_001390:exon14:c.1354-2A>C;NM_001198943:exon5:c.424-2A>C;NM_001198944:exon6:c.310-2A>C;NM_001198942:exon8:c.481-2A>C;NM_032981:exon5:c.220-2A>C;NM_032980:exon6:c.298-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1183-2A>C;ENST00000596745:exon8:c.604-2A>C;ENST00000598334:exon13:c.1174-2A>C;ENST00000399121:exon13:c.1174-2A>C;ENST00000399097:exon14:c.298-2A>C;ENST00000269190:exon17:c.1357-2A>C;ENST00000595022:exon13:c.1174-2A>C;ENST00000598142:exon13:c.1183-2A>C;ENST00000598774:exon13:c.1183-2A>C;ENST00000348997:exon14:c.1345-2A>C;ENST00000597599:exon12:c.1174-2A>C;ENST00000269191:exon14:c.1354-2A>C;ENST00000444659:exon14:c.1354-2A>C;ENST00000399113:exon14:c.1354-2A>C;ENST00000601125:exon5:c.220-2A>C;ENST00000269192:exon8:c.481-2A>C;ENST00000591182:exon6:c.298-2A>C;ENST00000556414:exon6:c.310-2A>C;ENST00000597674:exon5:c.220-2A>C;ENST00000599844:exon5:c.220-2A>C;ENST00000587723:exon4:c.151-2A>C)	.	.	0.999986741007567	0.946
18	32431793	A	G	18	34851829	y	y	splicing	DTNA(NM_001198945:exon8:c.604-2A>G;NM_032975:exon14:c.1183-2A>G;NM_032979:exon14:c.1183-2A>G;NM_001198940:exon13:c.1174-2A>G;NM_001198939:exon13:c.1174-2A>G;NM_001198938:exon13:c.1174-2A>G;NM_001198941:exon12:c.1174-2A>G;NM_032978:exon14:c.1345-2A>G;NM_001391:exon14:c.1354-2A>G;NM_001390:exon14:c.1354-2A>G;NM_001198943:exon5:c.424-2A>G;NM_001198944:exon6:c.310-2A>G;NM_001198942:exon8:c.481-2A>G;NM_032981:exon5:c.220-2A>G;NM_032980:exon6:c.298-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1183-2A>G;ENST00000596745:exon8:c.604-2A>G;ENST00000598334:exon13:c.1174-2A>G;ENST00000399121:exon13:c.1174-2A>G;ENST00000399097:exon14:c.298-2A>G;ENST00000269190:exon17:c.1357-2A>G;ENST00000595022:exon13:c.1174-2A>G;ENST00000598142:exon13:c.1183-2A>G;ENST00000598774:exon13:c.1183-2A>G;ENST00000348997:exon14:c.1345-2A>G;ENST00000597599:exon12:c.1174-2A>G;ENST00000269191:exon14:c.1354-2A>G;ENST00000444659:exon14:c.1354-2A>G;ENST00000399113:exon14:c.1354-2A>G;ENST00000601125:exon5:c.220-2A>G;ENST00000269192:exon8:c.481-2A>G;ENST00000591182:exon6:c.298-2A>G;ENST00000556414:exon6:c.310-2A>G;ENST00000597674:exon5:c.220-2A>G;ENST00000599844:exon5:c.220-2A>G;ENST00000587723:exon4:c.151-2A>G)	.	.	0.999986741007567	0.946
18	32431793	A	T	18	34851829	y	y	splicing	DTNA(NM_001198945:exon8:c.604-2A>T;NM_032975:exon14:c.1183-2A>T;NM_032979:exon14:c.1183-2A>T;NM_001198940:exon13:c.1174-2A>T;NM_001198939:exon13:c.1174-2A>T;NM_001198938:exon13:c.1174-2A>T;NM_001198941:exon12:c.1174-2A>T;NM_032978:exon14:c.1345-2A>T;NM_001391:exon14:c.1354-2A>T;NM_001390:exon14:c.1354-2A>T;NM_001198943:exon5:c.424-2A>T;NM_001198944:exon6:c.310-2A>T;NM_001198942:exon8:c.481-2A>T;NM_032981:exon5:c.220-2A>T;NM_032980:exon6:c.298-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1183-2A>T;ENST00000596745:exon8:c.604-2A>T;ENST00000598334:exon13:c.1174-2A>T;ENST00000399121:exon13:c.1174-2A>T;ENST00000399097:exon14:c.298-2A>T;ENST00000269190:exon17:c.1357-2A>T;ENST00000595022:exon13:c.1174-2A>T;ENST00000598142:exon13:c.1183-2A>T;ENST00000598774:exon13:c.1183-2A>T;ENST00000348997:exon14:c.1345-2A>T;ENST00000597599:exon12:c.1174-2A>T;ENST00000269191:exon14:c.1354-2A>T;ENST00000444659:exon14:c.1354-2A>T;ENST00000399113:exon14:c.1354-2A>T;ENST00000601125:exon5:c.220-2A>T;ENST00000269192:exon8:c.481-2A>T;ENST00000591182:exon6:c.298-2A>T;ENST00000556414:exon6:c.310-2A>T;ENST00000597674:exon5:c.220-2A>T;ENST00000599844:exon5:c.220-2A>T;ENST00000587723:exon4:c.151-2A>T)	.	.	0.999986741007567	0.946
18	32431794	G	A	18	34851830	y	y	splicing	DTNA(NM_001198945:exon8:c.604-1G>A;NM_032975:exon14:c.1183-1G>A;NM_032979:exon14:c.1183-1G>A;NM_001198940:exon13:c.1174-1G>A;NM_001198939:exon13:c.1174-1G>A;NM_001198938:exon13:c.1174-1G>A;NM_001198941:exon12:c.1174-1G>A;NM_032978:exon14:c.1345-1G>A;NM_001391:exon14:c.1354-1G>A;NM_001390:exon14:c.1354-1G>A;NM_001198943:exon5:c.424-1G>A;NM_001198944:exon6:c.310-1G>A;NM_001198942:exon8:c.481-1G>A;NM_032981:exon5:c.220-1G>A;NM_032980:exon6:c.298-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1183-1G>A;ENST00000596745:exon8:c.604-1G>A;ENST00000598334:exon13:c.1174-1G>A;ENST00000399121:exon13:c.1174-1G>A;ENST00000399097:exon14:c.298-1G>A;ENST00000269190:exon17:c.1357-1G>A;ENST00000595022:exon13:c.1174-1G>A;ENST00000598142:exon13:c.1183-1G>A;ENST00000598774:exon13:c.1183-1G>A;ENST00000348997:exon14:c.1345-1G>A;ENST00000597599:exon12:c.1174-1G>A;ENST00000269191:exon14:c.1354-1G>A;ENST00000444659:exon14:c.1354-1G>A;ENST00000399113:exon14:c.1354-1G>A;ENST00000601125:exon5:c.220-1G>A;ENST00000269192:exon8:c.481-1G>A;ENST00000591182:exon6:c.298-1G>A;ENST00000556414:exon6:c.310-1G>A;ENST00000597674:exon5:c.220-1G>A;ENST00000599844:exon5:c.220-1G>A;ENST00000587723:exon4:c.151-1G>A)	.	.	0.999983677848485	0.944
18	32431794	G	C	18	34851830	y	y	splicing	DTNA(NM_001198945:exon8:c.604-1G>C;NM_032975:exon14:c.1183-1G>C;NM_032979:exon14:c.1183-1G>C;NM_001198940:exon13:c.1174-1G>C;NM_001198939:exon13:c.1174-1G>C;NM_001198938:exon13:c.1174-1G>C;NM_001198941:exon12:c.1174-1G>C;NM_032978:exon14:c.1345-1G>C;NM_001391:exon14:c.1354-1G>C;NM_001390:exon14:c.1354-1G>C;NM_001198943:exon5:c.424-1G>C;NM_001198944:exon6:c.310-1G>C;NM_001198942:exon8:c.481-1G>C;NM_032981:exon5:c.220-1G>C;NM_032980:exon6:c.298-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1183-1G>C;ENST00000596745:exon8:c.604-1G>C;ENST00000598334:exon13:c.1174-1G>C;ENST00000399121:exon13:c.1174-1G>C;ENST00000399097:exon14:c.298-1G>C;ENST00000269190:exon17:c.1357-1G>C;ENST00000595022:exon13:c.1174-1G>C;ENST00000598142:exon13:c.1183-1G>C;ENST00000598774:exon13:c.1183-1G>C;ENST00000348997:exon14:c.1345-1G>C;ENST00000597599:exon12:c.1174-1G>C;ENST00000269191:exon14:c.1354-1G>C;ENST00000444659:exon14:c.1354-1G>C;ENST00000399113:exon14:c.1354-1G>C;ENST00000601125:exon5:c.220-1G>C;ENST00000269192:exon8:c.481-1G>C;ENST00000591182:exon6:c.298-1G>C;ENST00000556414:exon6:c.310-1G>C;ENST00000597674:exon5:c.220-1G>C;ENST00000599844:exon5:c.220-1G>C;ENST00000587723:exon4:c.151-1G>C)	.	.	0.999983677848485	0.944
18	32431794	G	T	18	34851830	y	y	splicing	DTNA(NM_001198945:exon8:c.604-1G>T;NM_032975:exon14:c.1183-1G>T;NM_032979:exon14:c.1183-1G>T;NM_001198940:exon13:c.1174-1G>T;NM_001198939:exon13:c.1174-1G>T;NM_001198938:exon13:c.1174-1G>T;NM_001198941:exon12:c.1174-1G>T;NM_032978:exon14:c.1345-1G>T;NM_001391:exon14:c.1354-1G>T;NM_001390:exon14:c.1354-1G>T;NM_001198943:exon5:c.424-1G>T;NM_001198944:exon6:c.310-1G>T;NM_001198942:exon8:c.481-1G>T;NM_032981:exon5:c.220-1G>T;NM_032980:exon6:c.298-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1183-1G>T;ENST00000596745:exon8:c.604-1G>T;ENST00000598334:exon13:c.1174-1G>T;ENST00000399121:exon13:c.1174-1G>T;ENST00000399097:exon14:c.298-1G>T;ENST00000269190:exon17:c.1357-1G>T;ENST00000595022:exon13:c.1174-1G>T;ENST00000598142:exon13:c.1183-1G>T;ENST00000598774:exon13:c.1183-1G>T;ENST00000348997:exon14:c.1345-1G>T;ENST00000597599:exon12:c.1174-1G>T;ENST00000269191:exon14:c.1354-1G>T;ENST00000444659:exon14:c.1354-1G>T;ENST00000399113:exon14:c.1354-1G>T;ENST00000601125:exon5:c.220-1G>T;ENST00000269192:exon8:c.481-1G>T;ENST00000591182:exon6:c.298-1G>T;ENST00000556414:exon6:c.310-1G>T;ENST00000597674:exon5:c.220-1G>T;ENST00000599844:exon5:c.220-1G>T;ENST00000587723:exon4:c.151-1G>T)	.	.	0.999983677848485	0.944
18	32431795	C	A	18	34851831	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.C1183A:p.Q395K;DTNA:NM_032978:exon14:c.C1345A:p.Q449K;DTNA:NM_001390:exon14:c.C1354A:p.Q452K;DTNA:NM_001198938:exon13:c.C1174A:p.Q392K;DTNA:NM_001198945:exon8:c.C604A:p.Q202K;DTNA:NM_001198943:exon5:c.C424A:p.Q142K;DTNA:NM_001198942:exon8:c.C481A:p.Q161K;DTNA:NM_001198944:exon6:c.C310A:p.Q104K;DTNA:NM_001391:exon14:c.C1354A:p.Q452K;DTNA:NM_032981:exon5:c.C220A:p.Q74K;DTNA:NM_001198940:exon13:c.C1174A:p.Q392K;DTNA:NM_001198939:exon13:c.C1174A:p.Q392K;DTNA:NM_001198941:exon12:c.C1174A:p.Q392K;DTNA:NM_032980:exon6:c.C298A:p.Q100K;DTNA:NM_032975:exon14:c.C1183A:p.Q395K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.C1345A:p.Q449K;ENSG00000134769:ENST00000399097:exon14:c.C298A:p.Q100K;ENSG00000134769:ENST00000598334:exon13:c.C1174A:p.Q392K;ENSG00000134769:ENST00000595022:exon13:c.C1174A:p.Q392K;ENSG00000134769:ENST00000444659:exon14:c.C1354A:p.Q452K;ENSG00000134769:ENST00000269191:exon14:c.C1354A:p.Q452K;ENSG00000134769:ENST00000283365:exon14:c.C1183A:p.Q395K;ENSG00000134769:ENST00000399113:exon14:c.C1354A:p.Q452K;ENSG00000134769:ENST00000599844:exon5:c.C220A:p.Q74K;ENSG00000134769:ENST00000556414:exon6:c.C310A:p.Q104K;ENSG00000134769:ENST00000269190:exon17:c.C1357A:p.Q453K;ENSG00000134769:ENST00000399121:exon13:c.C1174A:p.Q392K;ENSG00000134769:ENST00000587723:exon4:c.C151A:p.Q51K;ENSG00000134769:ENST00000269192:exon8:c.C481A:p.Q161K;ENSG00000134769:ENST00000597599:exon12:c.C1174A:p.Q392K;ENSG00000134769:ENST00000596745:exon8:c.C604A:p.Q202K;ENSG00000134769:ENST00000597674:exon5:c.C220A:p.Q74K;ENSG00000134769:ENST00000591182:exon6:c.C298A:p.Q100K;ENSG00000134769:ENST00000598774:exon13:c.C1183A:p.Q395K;ENSG00000134769:ENST00000598142:exon13:c.C1183A:p.Q395K;ENSG00000134769:ENST00000601125:exon5:c.C220A:p.Q74K;	0.956168659757478	0.796
18	32431795	C	G	18	34851831	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.C1183G:p.Q395E;DTNA:NM_032978:exon14:c.C1345G:p.Q449E;DTNA:NM_001390:exon14:c.C1354G:p.Q452E;DTNA:NM_001198938:exon13:c.C1174G:p.Q392E;DTNA:NM_001198945:exon8:c.C604G:p.Q202E;DTNA:NM_001198943:exon5:c.C424G:p.Q142E;DTNA:NM_001198942:exon8:c.C481G:p.Q161E;DTNA:NM_001198944:exon6:c.C310G:p.Q104E;DTNA:NM_001391:exon14:c.C1354G:p.Q452E;DTNA:NM_032981:exon5:c.C220G:p.Q74E;DTNA:NM_001198940:exon13:c.C1174G:p.Q392E;DTNA:NM_001198939:exon13:c.C1174G:p.Q392E;DTNA:NM_001198941:exon12:c.C1174G:p.Q392E;DTNA:NM_032980:exon6:c.C298G:p.Q100E;DTNA:NM_032975:exon14:c.C1183G:p.Q395E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.C1345G:p.Q449E;ENSG00000134769:ENST00000399097:exon14:c.C298G:p.Q100E;ENSG00000134769:ENST00000598334:exon13:c.C1174G:p.Q392E;ENSG00000134769:ENST00000595022:exon13:c.C1174G:p.Q392E;ENSG00000134769:ENST00000444659:exon14:c.C1354G:p.Q452E;ENSG00000134769:ENST00000269191:exon14:c.C1354G:p.Q452E;ENSG00000134769:ENST00000283365:exon14:c.C1183G:p.Q395E;ENSG00000134769:ENST00000399113:exon14:c.C1354G:p.Q452E;ENSG00000134769:ENST00000599844:exon5:c.C220G:p.Q74E;ENSG00000134769:ENST00000556414:exon6:c.C310G:p.Q104E;ENSG00000134769:ENST00000269190:exon17:c.C1357G:p.Q453E;ENSG00000134769:ENST00000399121:exon13:c.C1174G:p.Q392E;ENSG00000134769:ENST00000587723:exon4:c.C151G:p.Q51E;ENSG00000134769:ENST00000269192:exon8:c.C481G:p.Q161E;ENSG00000134769:ENST00000597599:exon12:c.C1174G:p.Q392E;ENSG00000134769:ENST00000596745:exon8:c.C604G:p.Q202E;ENSG00000134769:ENST00000597674:exon5:c.C220G:p.Q74E;ENSG00000134769:ENST00000591182:exon6:c.C298G:p.Q100E;ENSG00000134769:ENST00000598774:exon13:c.C1183G:p.Q395E;ENSG00000134769:ENST00000598142:exon13:c.C1183G:p.Q395E;ENSG00000134769:ENST00000601125:exon5:c.C220G:p.Q74E;	0.951510854635269	0.708
18	32431795	C	T	18	34851831	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon14:c.C1183T:p.Q395X;DTNA:NM_032978:exon14:c.C1345T:p.Q449X;DTNA:NM_001390:exon14:c.C1354T:p.Q452X;DTNA:NM_001198938:exon13:c.C1174T:p.Q392X;DTNA:NM_001198945:exon8:c.C604T:p.Q202X;DTNA:NM_001198943:exon5:c.C424T:p.Q142X;DTNA:NM_001198942:exon8:c.C481T:p.Q161X;DTNA:NM_001198944:exon6:c.C310T:p.Q104X;DTNA:NM_001391:exon14:c.C1354T:p.Q452X;DTNA:NM_032981:exon5:c.C220T:p.Q74X;DTNA:NM_001198940:exon13:c.C1174T:p.Q392X;DTNA:NM_001198939:exon13:c.C1174T:p.Q392X;DTNA:NM_001198941:exon12:c.C1174T:p.Q392X;DTNA:NM_032980:exon6:c.C298T:p.Q100X;DTNA:NM_032975:exon14:c.C1183T:p.Q395X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon14:c.C1345T:p.Q449X;ENSG00000134769:ENST00000399097:exon14:c.C298T:p.Q100X;ENSG00000134769:ENST00000598334:exon13:c.C1174T:p.Q392X;ENSG00000134769:ENST00000595022:exon13:c.C1174T:p.Q392X;ENSG00000134769:ENST00000444659:exon14:c.C1354T:p.Q452X;ENSG00000134769:ENST00000269191:exon14:c.C1354T:p.Q452X;ENSG00000134769:ENST00000283365:exon14:c.C1183T:p.Q395X;ENSG00000134769:ENST00000399113:exon14:c.C1354T:p.Q452X;ENSG00000134769:ENST00000599844:exon5:c.C220T:p.Q74X;ENSG00000134769:ENST00000556414:exon6:c.C310T:p.Q104X;ENSG00000134769:ENST00000269190:exon17:c.C1357T:p.Q453X;ENSG00000134769:ENST00000399121:exon13:c.C1174T:p.Q392X;ENSG00000134769:ENST00000587723:exon4:c.C151T:p.Q51X;ENSG00000134769:ENST00000269192:exon8:c.C481T:p.Q161X;ENSG00000134769:ENST00000597599:exon12:c.C1174T:p.Q392X;ENSG00000134769:ENST00000596745:exon8:c.C604T:p.Q202X;ENSG00000134769:ENST00000597674:exon5:c.C220T:p.Q74X;ENSG00000134769:ENST00000591182:exon6:c.C298T:p.Q100X;ENSG00000134769:ENST00000598774:exon13:c.C1183T:p.Q395X;ENSG00000134769:ENST00000598142:exon13:c.C1183T:p.Q395X;ENSG00000134769:ENST00000601125:exon5:c.C220T:p.Q74X;	0.99351706504169	0.846
18	32431796	A	C	18	34851832	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.A1184C:p.Q395P;DTNA:NM_032978:exon14:c.A1346C:p.Q449P;DTNA:NM_001390:exon14:c.A1355C:p.Q452P;DTNA:NM_001198938:exon13:c.A1175C:p.Q392P;DTNA:NM_001198945:exon8:c.A605C:p.Q202P;DTNA:NM_001198943:exon5:c.A425C:p.Q142P;DTNA:NM_001198942:exon8:c.A482C:p.Q161P;DTNA:NM_001198944:exon6:c.A311C:p.Q104P;DTNA:NM_001391:exon14:c.A1355C:p.Q452P;DTNA:NM_032981:exon5:c.A221C:p.Q74P;DTNA:NM_001198940:exon13:c.A1175C:p.Q392P;DTNA:NM_001198939:exon13:c.A1175C:p.Q392P;DTNA:NM_001198941:exon12:c.A1175C:p.Q392P;DTNA:NM_032980:exon6:c.A299C:p.Q100P;DTNA:NM_032975:exon14:c.A1184C:p.Q395P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.A1346C:p.Q449P;ENSG00000134769:ENST00000399097:exon14:c.A299C:p.Q100P;ENSG00000134769:ENST00000598334:exon13:c.A1175C:p.Q392P;ENSG00000134769:ENST00000595022:exon13:c.A1175C:p.Q392P;ENSG00000134769:ENST00000444659:exon14:c.A1355C:p.Q452P;ENSG00000134769:ENST00000269191:exon14:c.A1355C:p.Q452P;ENSG00000134769:ENST00000283365:exon14:c.A1184C:p.Q395P;ENSG00000134769:ENST00000399113:exon14:c.A1355C:p.Q452P;ENSG00000134769:ENST00000599844:exon5:c.A221C:p.Q74P;ENSG00000134769:ENST00000556414:exon6:c.A311C:p.Q104P;ENSG00000134769:ENST00000269190:exon17:c.A1358C:p.Q453P;ENSG00000134769:ENST00000399121:exon13:c.A1175C:p.Q392P;ENSG00000134769:ENST00000587723:exon4:c.A152C:p.Q51P;ENSG00000134769:ENST00000269192:exon8:c.A482C:p.Q161P;ENSG00000134769:ENST00000597599:exon12:c.A1175C:p.Q392P;ENSG00000134769:ENST00000596745:exon8:c.A605C:p.Q202P;ENSG00000134769:ENST00000597674:exon5:c.A221C:p.Q74P;ENSG00000134769:ENST00000591182:exon6:c.A299C:p.Q100P;ENSG00000134769:ENST00000598774:exon13:c.A1184C:p.Q395P;ENSG00000134769:ENST00000598142:exon13:c.A1184C:p.Q395P;ENSG00000134769:ENST00000601125:exon5:c.A221C:p.Q74P;	0.697954391670701	0.586
18	32431796	A	G	18	34851832	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.A1184G:p.Q395R;DTNA:NM_032978:exon14:c.A1346G:p.Q449R;DTNA:NM_001390:exon14:c.A1355G:p.Q452R;DTNA:NM_001198938:exon13:c.A1175G:p.Q392R;DTNA:NM_001198945:exon8:c.A605G:p.Q202R;DTNA:NM_001198943:exon5:c.A425G:p.Q142R;DTNA:NM_001198942:exon8:c.A482G:p.Q161R;DTNA:NM_001198944:exon6:c.A311G:p.Q104R;DTNA:NM_001391:exon14:c.A1355G:p.Q452R;DTNA:NM_032981:exon5:c.A221G:p.Q74R;DTNA:NM_001198940:exon13:c.A1175G:p.Q392R;DTNA:NM_001198939:exon13:c.A1175G:p.Q392R;DTNA:NM_001198941:exon12:c.A1175G:p.Q392R;DTNA:NM_032980:exon6:c.A299G:p.Q100R;DTNA:NM_032975:exon14:c.A1184G:p.Q395R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.A1346G:p.Q449R;ENSG00000134769:ENST00000399097:exon14:c.A299G:p.Q100R;ENSG00000134769:ENST00000598334:exon13:c.A1175G:p.Q392R;ENSG00000134769:ENST00000595022:exon13:c.A1175G:p.Q392R;ENSG00000134769:ENST00000444659:exon14:c.A1355G:p.Q452R;ENSG00000134769:ENST00000269191:exon14:c.A1355G:p.Q452R;ENSG00000134769:ENST00000283365:exon14:c.A1184G:p.Q395R;ENSG00000134769:ENST00000399113:exon14:c.A1355G:p.Q452R;ENSG00000134769:ENST00000599844:exon5:c.A221G:p.Q74R;ENSG00000134769:ENST00000556414:exon6:c.A311G:p.Q104R;ENSG00000134769:ENST00000269190:exon17:c.A1358G:p.Q453R;ENSG00000134769:ENST00000399121:exon13:c.A1175G:p.Q392R;ENSG00000134769:ENST00000587723:exon4:c.A152G:p.Q51R;ENSG00000134769:ENST00000269192:exon8:c.A482G:p.Q161R;ENSG00000134769:ENST00000597599:exon12:c.A1175G:p.Q392R;ENSG00000134769:ENST00000596745:exon8:c.A605G:p.Q202R;ENSG00000134769:ENST00000597674:exon5:c.A221G:p.Q74R;ENSG00000134769:ENST00000591182:exon6:c.A299G:p.Q100R;ENSG00000134769:ENST00000598774:exon13:c.A1184G:p.Q395R;ENSG00000134769:ENST00000598142:exon13:c.A1184G:p.Q395R;ENSG00000134769:ENST00000601125:exon5:c.A221G:p.Q74R;	0.853043020719055	0.68
18	32431796	A	T	18	34851832	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.A1184T:p.Q395L;DTNA:NM_032978:exon14:c.A1346T:p.Q449L;DTNA:NM_001390:exon14:c.A1355T:p.Q452L;DTNA:NM_001198938:exon13:c.A1175T:p.Q392L;DTNA:NM_001198945:exon8:c.A605T:p.Q202L;DTNA:NM_001198943:exon5:c.A425T:p.Q142L;DTNA:NM_001198942:exon8:c.A482T:p.Q161L;DTNA:NM_001198944:exon6:c.A311T:p.Q104L;DTNA:NM_001391:exon14:c.A1355T:p.Q452L;DTNA:NM_032981:exon5:c.A221T:p.Q74L;DTNA:NM_001198940:exon13:c.A1175T:p.Q392L;DTNA:NM_001198939:exon13:c.A1175T:p.Q392L;DTNA:NM_001198941:exon12:c.A1175T:p.Q392L;DTNA:NM_032980:exon6:c.A299T:p.Q100L;DTNA:NM_032975:exon14:c.A1184T:p.Q395L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.A1346T:p.Q449L;ENSG00000134769:ENST00000399097:exon14:c.A299T:p.Q100L;ENSG00000134769:ENST00000598334:exon13:c.A1175T:p.Q392L;ENSG00000134769:ENST00000595022:exon13:c.A1175T:p.Q392L;ENSG00000134769:ENST00000444659:exon14:c.A1355T:p.Q452L;ENSG00000134769:ENST00000269191:exon14:c.A1355T:p.Q452L;ENSG00000134769:ENST00000283365:exon14:c.A1184T:p.Q395L;ENSG00000134769:ENST00000399113:exon14:c.A1355T:p.Q452L;ENSG00000134769:ENST00000599844:exon5:c.A221T:p.Q74L;ENSG00000134769:ENST00000556414:exon6:c.A311T:p.Q104L;ENSG00000134769:ENST00000269190:exon17:c.A1358T:p.Q453L;ENSG00000134769:ENST00000399121:exon13:c.A1175T:p.Q392L;ENSG00000134769:ENST00000587723:exon4:c.A152T:p.Q51L;ENSG00000134769:ENST00000269192:exon8:c.A482T:p.Q161L;ENSG00000134769:ENST00000597599:exon12:c.A1175T:p.Q392L;ENSG00000134769:ENST00000596745:exon8:c.A605T:p.Q202L;ENSG00000134769:ENST00000597674:exon5:c.A221T:p.Q74L;ENSG00000134769:ENST00000591182:exon6:c.A299T:p.Q100L;ENSG00000134769:ENST00000598774:exon13:c.A1184T:p.Q395L;ENSG00000134769:ENST00000598142:exon13:c.A1184T:p.Q395L;ENSG00000134769:ENST00000601125:exon5:c.A221T:p.Q74L;	0.782296931559779	0.682
18	32431890	C	A	18	34851926	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.C1278A:p.N426K;DTNA:NM_032978:exon14:c.C1440A:p.N480K;DTNA:NM_001390:exon14:c.C1449A:p.N483K;DTNA:NM_001198938:exon13:c.C1269A:p.N423K;DTNA:NM_001198945:exon8:c.C699A:p.N233K;DTNA:NM_001198943:exon5:c.C519A:p.N173K;DTNA:NM_001198942:exon8:c.C576A:p.N192K;DTNA:NM_001198944:exon6:c.C405A:p.N135K;DTNA:NM_001391:exon14:c.C1449A:p.N483K;DTNA:NM_032981:exon5:c.C315A:p.N105K;DTNA:NM_001198940:exon13:c.C1269A:p.N423K;DTNA:NM_001198939:exon13:c.C1269A:p.N423K;DTNA:NM_001198941:exon12:c.C1269A:p.N423K;DTNA:NM_032980:exon6:c.C393A:p.N131K;DTNA:NM_032975:exon14:c.C1278A:p.N426K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.C1440A:p.N480K;ENSG00000134769:ENST00000399097:exon14:c.C393A:p.N131K;ENSG00000134769:ENST00000598334:exon13:c.C1269A:p.N423K;ENSG00000134769:ENST00000595022:exon13:c.C1269A:p.N423K;ENSG00000134769:ENST00000444659:exon14:c.C1449A:p.N483K;ENSG00000134769:ENST00000269191:exon14:c.C1449A:p.N483K;ENSG00000134769:ENST00000283365:exon14:c.C1278A:p.N426K;ENSG00000134769:ENST00000399113:exon14:c.C1449A:p.N483K;ENSG00000134769:ENST00000599844:exon5:c.C315A:p.N105K;ENSG00000134769:ENST00000556414:exon6:c.C405A:p.N135K;ENSG00000134769:ENST00000269190:exon17:c.C1452A:p.N484K;ENSG00000134769:ENST00000399121:exon13:c.C1269A:p.N423K;ENSG00000134769:ENST00000587723:exon4:c.C246A:p.N82K;ENSG00000134769:ENST00000269192:exon8:c.C576A:p.N192K;ENSG00000134769:ENST00000597599:exon12:c.C1269A:p.N423K;ENSG00000134769:ENST00000596745:exon8:c.C699A:p.N233K;ENSG00000134769:ENST00000597674:exon5:c.C315A:p.N105K;ENSG00000134769:ENST00000591182:exon6:c.C393A:p.N131K;ENSG00000134769:ENST00000598774:exon13:c.C1278A:p.N426K;ENSG00000134769:ENST00000598142:exon13:c.C1278A:p.N426K;ENSG00000134769:ENST00000601125:exon5:c.C315A:p.N105K;	0.961738356536675	0.824
18	32431890	C	G	18	34851926	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.C1278G:p.N426K;DTNA:NM_032978:exon14:c.C1440G:p.N480K;DTNA:NM_001390:exon14:c.C1449G:p.N483K;DTNA:NM_001198938:exon13:c.C1269G:p.N423K;DTNA:NM_001198945:exon8:c.C699G:p.N233K;DTNA:NM_001198943:exon5:c.C519G:p.N173K;DTNA:NM_001198942:exon8:c.C576G:p.N192K;DTNA:NM_001198944:exon6:c.C405G:p.N135K;DTNA:NM_001391:exon14:c.C1449G:p.N483K;DTNA:NM_032981:exon5:c.C315G:p.N105K;DTNA:NM_001198940:exon13:c.C1269G:p.N423K;DTNA:NM_001198939:exon13:c.C1269G:p.N423K;DTNA:NM_001198941:exon12:c.C1269G:p.N423K;DTNA:NM_032980:exon6:c.C393G:p.N131K;DTNA:NM_032975:exon14:c.C1278G:p.N426K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.C1440G:p.N480K;ENSG00000134769:ENST00000399097:exon14:c.C393G:p.N131K;ENSG00000134769:ENST00000598334:exon13:c.C1269G:p.N423K;ENSG00000134769:ENST00000595022:exon13:c.C1269G:p.N423K;ENSG00000134769:ENST00000444659:exon14:c.C1449G:p.N483K;ENSG00000134769:ENST00000269191:exon14:c.C1449G:p.N483K;ENSG00000134769:ENST00000283365:exon14:c.C1278G:p.N426K;ENSG00000134769:ENST00000399113:exon14:c.C1449G:p.N483K;ENSG00000134769:ENST00000599844:exon5:c.C315G:p.N105K;ENSG00000134769:ENST00000556414:exon6:c.C405G:p.N135K;ENSG00000134769:ENST00000269190:exon17:c.C1452G:p.N484K;ENSG00000134769:ENST00000399121:exon13:c.C1269G:p.N423K;ENSG00000134769:ENST00000587723:exon4:c.C246G:p.N82K;ENSG00000134769:ENST00000269192:exon8:c.C576G:p.N192K;ENSG00000134769:ENST00000597599:exon12:c.C1269G:p.N423K;ENSG00000134769:ENST00000596745:exon8:c.C699G:p.N233K;ENSG00000134769:ENST00000597674:exon5:c.C315G:p.N105K;ENSG00000134769:ENST00000591182:exon6:c.C393G:p.N131K;ENSG00000134769:ENST00000598774:exon13:c.C1278G:p.N426K;ENSG00000134769:ENST00000598142:exon13:c.C1278G:p.N426K;ENSG00000134769:ENST00000601125:exon5:c.C315G:p.N105K;	0.890516801200286	0.704
18	32431890	C	T	18	34851926	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon14:c.C1278T:p.N426N;DTNA:NM_032978:exon14:c.C1440T:p.N480N;DTNA:NM_001390:exon14:c.C1449T:p.N483N;DTNA:NM_001198938:exon13:c.C1269T:p.N423N;DTNA:NM_001198945:exon8:c.C699T:p.N233N;DTNA:NM_001198943:exon5:c.C519T:p.N173N;DTNA:NM_001198942:exon8:c.C576T:p.N192N;DTNA:NM_001198944:exon6:c.C405T:p.N135N;DTNA:NM_001391:exon14:c.C1449T:p.N483N;DTNA:NM_032981:exon5:c.C315T:p.N105N;DTNA:NM_001198940:exon13:c.C1269T:p.N423N;DTNA:NM_001198939:exon13:c.C1269T:p.N423N;DTNA:NM_001198941:exon12:c.C1269T:p.N423N;DTNA:NM_032980:exon6:c.C393T:p.N131N;DTNA:NM_032975:exon14:c.C1278T:p.N426N;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.C1440T:p.N480N;ENSG00000134769:ENST00000399097:exon14:c.C393T:p.N131N;ENSG00000134769:ENST00000598334:exon13:c.C1269T:p.N423N;ENSG00000134769:ENST00000595022:exon13:c.C1269T:p.N423N;ENSG00000134769:ENST00000444659:exon14:c.C1449T:p.N483N;ENSG00000134769:ENST00000269191:exon14:c.C1449T:p.N483N;ENSG00000134769:ENST00000283365:exon14:c.C1278T:p.N426N;ENSG00000134769:ENST00000399113:exon14:c.C1449T:p.N483N;ENSG00000134769:ENST00000599844:exon5:c.C315T:p.N105N;ENSG00000134769:ENST00000556414:exon6:c.C405T:p.N135N;ENSG00000134769:ENST00000269190:exon17:c.C1452T:p.N484N;ENSG00000134769:ENST00000399121:exon13:c.C1269T:p.N423N;ENSG00000134769:ENST00000587723:exon4:c.C246T:p.N82N;ENSG00000134769:ENST00000269192:exon8:c.C576T:p.N192N;ENSG00000134769:ENST00000597599:exon12:c.C1269T:p.N423N;ENSG00000134769:ENST00000596745:exon8:c.C699T:p.N233N;ENSG00000134769:ENST00000597674:exon5:c.C315T:p.N105N;ENSG00000134769:ENST00000591182:exon6:c.C393T:p.N131N;ENSG00000134769:ENST00000598774:exon13:c.C1278T:p.N426N;ENSG00000134769:ENST00000598142:exon13:c.C1278T:p.N426N;ENSG00000134769:ENST00000601125:exon5:c.C315T:p.N105N;	0.997320432409821	0.81
18	32431891	A	C	18	34851927	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon14:c.A1279C:p.R427R;DTNA:NM_032978:exon14:c.A1441C:p.R481R;DTNA:NM_001390:exon14:c.A1450C:p.R484R;DTNA:NM_001198938:exon13:c.A1270C:p.R424R;DTNA:NM_001198945:exon8:c.A700C:p.R234R;DTNA:NM_001198943:exon5:c.A520C:p.R174R;DTNA:NM_001198942:exon8:c.A577C:p.R193R;DTNA:NM_001198944:exon6:c.A406C:p.R136R;DTNA:NM_001391:exon14:c.A1450C:p.R484R;DTNA:NM_032981:exon5:c.A316C:p.R106R;DTNA:NM_001198940:exon13:c.A1270C:p.R424R;DTNA:NM_001198939:exon13:c.A1270C:p.R424R;DTNA:NM_001198941:exon12:c.A1270C:p.R424R;DTNA:NM_032980:exon6:c.A394C:p.R132R;DTNA:NM_032975:exon14:c.A1279C:p.R427R;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.A1441C:p.R481R;ENSG00000134769:ENST00000399097:exon14:c.A394C:p.R132R;ENSG00000134769:ENST00000598334:exon13:c.A1270C:p.R424R;ENSG00000134769:ENST00000595022:exon13:c.A1270C:p.R424R;ENSG00000134769:ENST00000444659:exon14:c.A1450C:p.R484R;ENSG00000134769:ENST00000269191:exon14:c.A1450C:p.R484R;ENSG00000134769:ENST00000283365:exon14:c.A1279C:p.R427R;ENSG00000134769:ENST00000399113:exon14:c.A1450C:p.R484R;ENSG00000134769:ENST00000599844:exon5:c.A316C:p.R106R;ENSG00000134769:ENST00000556414:exon6:c.A406C:p.R136R;ENSG00000134769:ENST00000269190:exon17:c.A1453C:p.R485R;ENSG00000134769:ENST00000399121:exon13:c.A1270C:p.R424R;ENSG00000134769:ENST00000587723:exon4:c.A247C:p.R83R;ENSG00000134769:ENST00000269192:exon8:c.A577C:p.R193R;ENSG00000134769:ENST00000597599:exon12:c.A1270C:p.R424R;ENSG00000134769:ENST00000596745:exon8:c.A700C:p.R234R;ENSG00000134769:ENST00000597674:exon5:c.A316C:p.R106R;ENSG00000134769:ENST00000591182:exon6:c.A394C:p.R132R;ENSG00000134769:ENST00000598774:exon13:c.A1279C:p.R427R;ENSG00000134769:ENST00000598142:exon13:c.A1279C:p.R427R;ENSG00000134769:ENST00000601125:exon5:c.A316C:p.R106R;	0.421221830976404	0.632
18	32431891	A	G	18	34851927	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.A1279G:p.R427G;DTNA:NM_032978:exon14:c.A1441G:p.R481G;DTNA:NM_001390:exon14:c.A1450G:p.R484G;DTNA:NM_001198938:exon13:c.A1270G:p.R424G;DTNA:NM_001198945:exon8:c.A700G:p.R234G;DTNA:NM_001198943:exon5:c.A520G:p.R174G;DTNA:NM_001198942:exon8:c.A577G:p.R193G;DTNA:NM_001198944:exon6:c.A406G:p.R136G;DTNA:NM_001391:exon14:c.A1450G:p.R484G;DTNA:NM_032981:exon5:c.A316G:p.R106G;DTNA:NM_001198940:exon13:c.A1270G:p.R424G;DTNA:NM_001198939:exon13:c.A1270G:p.R424G;DTNA:NM_001198941:exon12:c.A1270G:p.R424G;DTNA:NM_032980:exon6:c.A394G:p.R132G;DTNA:NM_032975:exon14:c.A1279G:p.R427G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.A1441G:p.R481G;ENSG00000134769:ENST00000399097:exon14:c.A394G:p.R132G;ENSG00000134769:ENST00000598334:exon13:c.A1270G:p.R424G;ENSG00000134769:ENST00000595022:exon13:c.A1270G:p.R424G;ENSG00000134769:ENST00000444659:exon14:c.A1450G:p.R484G;ENSG00000134769:ENST00000269191:exon14:c.A1450G:p.R484G;ENSG00000134769:ENST00000283365:exon14:c.A1279G:p.R427G;ENSG00000134769:ENST00000399113:exon14:c.A1450G:p.R484G;ENSG00000134769:ENST00000599844:exon5:c.A316G:p.R106G;ENSG00000134769:ENST00000556414:exon6:c.A406G:p.R136G;ENSG00000134769:ENST00000269190:exon17:c.A1453G:p.R485G;ENSG00000134769:ENST00000399121:exon13:c.A1270G:p.R424G;ENSG00000134769:ENST00000587723:exon4:c.A247G:p.R83G;ENSG00000134769:ENST00000269192:exon8:c.A577G:p.R193G;ENSG00000134769:ENST00000597599:exon12:c.A1270G:p.R424G;ENSG00000134769:ENST00000596745:exon8:c.A700G:p.R234G;ENSG00000134769:ENST00000597674:exon5:c.A316G:p.R106G;ENSG00000134769:ENST00000591182:exon6:c.A394G:p.R132G;ENSG00000134769:ENST00000598774:exon13:c.A1279G:p.R427G;ENSG00000134769:ENST00000598142:exon13:c.A1279G:p.R427G;ENSG00000134769:ENST00000601125:exon5:c.A316G:p.R106G;	0.992331464317232	0.78
18	32431891	A	T	18	34851927	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon14:c.A1279T:p.R427X;DTNA:NM_032978:exon14:c.A1441T:p.R481X;DTNA:NM_001390:exon14:c.A1450T:p.R484X;DTNA:NM_001198938:exon13:c.A1270T:p.R424X;DTNA:NM_001198945:exon8:c.A700T:p.R234X;DTNA:NM_001198943:exon5:c.A520T:p.R174X;DTNA:NM_001198942:exon8:c.A577T:p.R193X;DTNA:NM_001198944:exon6:c.A406T:p.R136X;DTNA:NM_001391:exon14:c.A1450T:p.R484X;DTNA:NM_032981:exon5:c.A316T:p.R106X;DTNA:NM_001198940:exon13:c.A1270T:p.R424X;DTNA:NM_001198939:exon13:c.A1270T:p.R424X;DTNA:NM_001198941:exon12:c.A1270T:p.R424X;DTNA:NM_032980:exon6:c.A394T:p.R132X;DTNA:NM_032975:exon14:c.A1279T:p.R427X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon14:c.A1441T:p.R481X;ENSG00000134769:ENST00000399097:exon14:c.A394T:p.R132X;ENSG00000134769:ENST00000598334:exon13:c.A1270T:p.R424X;ENSG00000134769:ENST00000595022:exon13:c.A1270T:p.R424X;ENSG00000134769:ENST00000444659:exon14:c.A1450T:p.R484X;ENSG00000134769:ENST00000269191:exon14:c.A1450T:p.R484X;ENSG00000134769:ENST00000283365:exon14:c.A1279T:p.R427X;ENSG00000134769:ENST00000399113:exon14:c.A1450T:p.R484X;ENSG00000134769:ENST00000599844:exon5:c.A316T:p.R106X;ENSG00000134769:ENST00000556414:exon6:c.A406T:p.R136X;ENSG00000134769:ENST00000269190:exon17:c.A1453T:p.R485X;ENSG00000134769:ENST00000399121:exon13:c.A1270T:p.R424X;ENSG00000134769:ENST00000587723:exon4:c.A247T:p.R83X;ENSG00000134769:ENST00000269192:exon8:c.A577T:p.R193X;ENSG00000134769:ENST00000597599:exon12:c.A1270T:p.R424X;ENSG00000134769:ENST00000596745:exon8:c.A700T:p.R234X;ENSG00000134769:ENST00000597674:exon5:c.A316T:p.R106X;ENSG00000134769:ENST00000591182:exon6:c.A394T:p.R132X;ENSG00000134769:ENST00000598774:exon13:c.A1279T:p.R427X;ENSG00000134769:ENST00000598142:exon13:c.A1279T:p.R427X;ENSG00000134769:ENST00000601125:exon5:c.A316T:p.R106X;	0.995629042033899	0.762
18	32431892	G	A	18	34851928	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.G1280A:p.R427K;DTNA:NM_032978:exon14:c.G1442A:p.R481K;DTNA:NM_001390:exon14:c.G1451A:p.R484K;DTNA:NM_001198938:exon13:c.G1271A:p.R424K;DTNA:NM_001198945:exon8:c.G701A:p.R234K;DTNA:NM_001198943:exon5:c.G521A:p.R174K;DTNA:NM_001198942:exon8:c.G578A:p.R193K;DTNA:NM_001198944:exon6:c.G407A:p.R136K;DTNA:NM_001391:exon14:c.G1451A:p.R484K;DTNA:NM_032981:exon5:c.G317A:p.R106K;DTNA:NM_001198940:exon13:c.G1271A:p.R424K;DTNA:NM_001198939:exon13:c.G1271A:p.R424K;DTNA:NM_001198941:exon12:c.G1271A:p.R424K;DTNA:NM_032980:exon6:c.G395A:p.R132K;DTNA:NM_032975:exon14:c.G1280A:p.R427K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.G1442A:p.R481K;ENSG00000134769:ENST00000399097:exon14:c.G395A:p.R132K;ENSG00000134769:ENST00000598334:exon13:c.G1271A:p.R424K;ENSG00000134769:ENST00000595022:exon13:c.G1271A:p.R424K;ENSG00000134769:ENST00000444659:exon14:c.G1451A:p.R484K;ENSG00000134769:ENST00000269191:exon14:c.G1451A:p.R484K;ENSG00000134769:ENST00000283365:exon14:c.G1280A:p.R427K;ENSG00000134769:ENST00000399113:exon14:c.G1451A:p.R484K;ENSG00000134769:ENST00000599844:exon5:c.G317A:p.R106K;ENSG00000134769:ENST00000556414:exon6:c.G407A:p.R136K;ENSG00000134769:ENST00000269190:exon17:c.G1454A:p.R485K;ENSG00000134769:ENST00000399121:exon13:c.G1271A:p.R424K;ENSG00000134769:ENST00000587723:exon4:c.G248A:p.R83K;ENSG00000134769:ENST00000269192:exon8:c.G578A:p.R193K;ENSG00000134769:ENST00000597599:exon12:c.G1271A:p.R424K;ENSG00000134769:ENST00000596745:exon8:c.G701A:p.R234K;ENSG00000134769:ENST00000597674:exon5:c.G317A:p.R106K;ENSG00000134769:ENST00000591182:exon6:c.G395A:p.R132K;ENSG00000134769:ENST00000598774:exon13:c.G1280A:p.R427K;ENSG00000134769:ENST00000598142:exon13:c.G1280A:p.R427K;ENSG00000134769:ENST00000601125:exon5:c.G317A:p.R106K;	0.999979156883127	0.996
18	32431892	G	C	18	34851928	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.G1280C:p.R427T;DTNA:NM_032978:exon14:c.G1442C:p.R481T;DTNA:NM_001390:exon14:c.G1451C:p.R484T;DTNA:NM_001198938:exon13:c.G1271C:p.R424T;DTNA:NM_001198945:exon8:c.G701C:p.R234T;DTNA:NM_001198943:exon5:c.G521C:p.R174T;DTNA:NM_001198942:exon8:c.G578C:p.R193T;DTNA:NM_001198944:exon6:c.G407C:p.R136T;DTNA:NM_001391:exon14:c.G1451C:p.R484T;DTNA:NM_032981:exon5:c.G317C:p.R106T;DTNA:NM_001198940:exon13:c.G1271C:p.R424T;DTNA:NM_001198939:exon13:c.G1271C:p.R424T;DTNA:NM_001198941:exon12:c.G1271C:p.R424T;DTNA:NM_032980:exon6:c.G395C:p.R132T;DTNA:NM_032975:exon14:c.G1280C:p.R427T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.G1442C:p.R481T;ENSG00000134769:ENST00000399097:exon14:c.G395C:p.R132T;ENSG00000134769:ENST00000598334:exon13:c.G1271C:p.R424T;ENSG00000134769:ENST00000595022:exon13:c.G1271C:p.R424T;ENSG00000134769:ENST00000444659:exon14:c.G1451C:p.R484T;ENSG00000134769:ENST00000269191:exon14:c.G1451C:p.R484T;ENSG00000134769:ENST00000283365:exon14:c.G1280C:p.R427T;ENSG00000134769:ENST00000399113:exon14:c.G1451C:p.R484T;ENSG00000134769:ENST00000599844:exon5:c.G317C:p.R106T;ENSG00000134769:ENST00000556414:exon6:c.G407C:p.R136T;ENSG00000134769:ENST00000269190:exon17:c.G1454C:p.R485T;ENSG00000134769:ENST00000399121:exon13:c.G1271C:p.R424T;ENSG00000134769:ENST00000587723:exon4:c.G248C:p.R83T;ENSG00000134769:ENST00000269192:exon8:c.G578C:p.R193T;ENSG00000134769:ENST00000597599:exon12:c.G1271C:p.R424T;ENSG00000134769:ENST00000596745:exon8:c.G701C:p.R234T;ENSG00000134769:ENST00000597674:exon5:c.G317C:p.R106T;ENSG00000134769:ENST00000591182:exon6:c.G395C:p.R132T;ENSG00000134769:ENST00000598774:exon13:c.G1280C:p.R427T;ENSG00000134769:ENST00000598142:exon13:c.G1280C:p.R427T;ENSG00000134769:ENST00000601125:exon5:c.G317C:p.R106T;	0.999997218452106	0.994
18	32431892	G	T	18	34851928	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon14:c.G1280T:p.R427I;DTNA:NM_032978:exon14:c.G1442T:p.R481I;DTNA:NM_001390:exon14:c.G1451T:p.R484I;DTNA:NM_001198938:exon13:c.G1271T:p.R424I;DTNA:NM_001198945:exon8:c.G701T:p.R234I;DTNA:NM_001198943:exon5:c.G521T:p.R174I;DTNA:NM_001198942:exon8:c.G578T:p.R193I;DTNA:NM_001198944:exon6:c.G407T:p.R136I;DTNA:NM_001391:exon14:c.G1451T:p.R484I;DTNA:NM_032981:exon5:c.G317T:p.R106I;DTNA:NM_001198940:exon13:c.G1271T:p.R424I;DTNA:NM_001198939:exon13:c.G1271T:p.R424I;DTNA:NM_001198941:exon12:c.G1271T:p.R424I;DTNA:NM_032980:exon6:c.G395T:p.R132I;DTNA:NM_032975:exon14:c.G1280T:p.R427I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon14:c.G1442T:p.R481I;ENSG00000134769:ENST00000399097:exon14:c.G395T:p.R132I;ENSG00000134769:ENST00000598334:exon13:c.G1271T:p.R424I;ENSG00000134769:ENST00000595022:exon13:c.G1271T:p.R424I;ENSG00000134769:ENST00000444659:exon14:c.G1451T:p.R484I;ENSG00000134769:ENST00000269191:exon14:c.G1451T:p.R484I;ENSG00000134769:ENST00000283365:exon14:c.G1280T:p.R427I;ENSG00000134769:ENST00000399113:exon14:c.G1451T:p.R484I;ENSG00000134769:ENST00000599844:exon5:c.G317T:p.R106I;ENSG00000134769:ENST00000556414:exon6:c.G407T:p.R136I;ENSG00000134769:ENST00000269190:exon17:c.G1454T:p.R485I;ENSG00000134769:ENST00000399121:exon13:c.G1271T:p.R424I;ENSG00000134769:ENST00000587723:exon4:c.G248T:p.R83I;ENSG00000134769:ENST00000269192:exon8:c.G578T:p.R193I;ENSG00000134769:ENST00000597599:exon12:c.G1271T:p.R424I;ENSG00000134769:ENST00000596745:exon8:c.G701T:p.R234I;ENSG00000134769:ENST00000597674:exon5:c.G317T:p.R106I;ENSG00000134769:ENST00000591182:exon6:c.G395T:p.R132I;ENSG00000134769:ENST00000598774:exon13:c.G1280T:p.R427I;ENSG00000134769:ENST00000598142:exon13:c.G1280T:p.R427I;ENSG00000134769:ENST00000601125:exon5:c.G317T:p.R106I;	0.999973147473037	0.998
18	32431893	G	A	18	34851929	y	y	splicing	DTNA(NM_001198945:exon8:c.701+1G>A;NM_032975:exon14:c.1280+1G>A;NM_032979:exon14:c.1280+1G>A;NM_001198940:exon13:c.1271+1G>A;NM_001198939:exon13:c.1271+1G>A;NM_001198938:exon13:c.1271+1G>A;NM_001198941:exon12:c.1271+1G>A;NM_032978:exon14:c.1442+1G>A;NM_001391:exon14:c.1451+1G>A;NM_001390:exon14:c.1451+1G>A;NM_001198943:exon5:c.521+1G>A;NM_001198944:exon6:c.407+1G>A;NM_001198942:exon8:c.578+1G>A;NM_032981:exon5:c.317+1G>A;NM_032980:exon6:c.395+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1280+1G>A;ENST00000596745:exon8:c.701+1G>A;ENST00000598334:exon13:c.1271+1G>A;ENST00000399121:exon13:c.1271+1G>A;ENST00000399097:exon14:c.395+1G>A;ENST00000269190:exon17:c.1454+1G>A;ENST00000595022:exon13:c.1271+1G>A;ENST00000598142:exon13:c.1280+1G>A;ENST00000598774:exon13:c.1280+1G>A;ENST00000348997:exon14:c.1442+1G>A;ENST00000597599:exon12:c.1271+1G>A;ENST00000269191:exon14:c.1451+1G>A;ENST00000444659:exon14:c.1451+1G>A;ENST00000399113:exon14:c.1451+1G>A;ENST00000601125:exon5:c.317+1G>A;ENST00000269192:exon8:c.578+1G>A;ENST00000591182:exon6:c.395+1G>A;ENST00000556414:exon6:c.407+1G>A;ENST00000597674:exon5:c.317+1G>A;ENST00000599844:exon5:c.317+1G>A;ENST00000587723:exon4:c.248+1G>A)	.	.	0.999985532734767	0.938
18	32431893	G	C	18	34851929	y	y	splicing	DTNA(NM_001198945:exon8:c.701+1G>C;NM_032975:exon14:c.1280+1G>C;NM_032979:exon14:c.1280+1G>C;NM_001198940:exon13:c.1271+1G>C;NM_001198939:exon13:c.1271+1G>C;NM_001198938:exon13:c.1271+1G>C;NM_001198941:exon12:c.1271+1G>C;NM_032978:exon14:c.1442+1G>C;NM_001391:exon14:c.1451+1G>C;NM_001390:exon14:c.1451+1G>C;NM_001198943:exon5:c.521+1G>C;NM_001198944:exon6:c.407+1G>C;NM_001198942:exon8:c.578+1G>C;NM_032981:exon5:c.317+1G>C;NM_032980:exon6:c.395+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1280+1G>C;ENST00000596745:exon8:c.701+1G>C;ENST00000598334:exon13:c.1271+1G>C;ENST00000399121:exon13:c.1271+1G>C;ENST00000399097:exon14:c.395+1G>C;ENST00000269190:exon17:c.1454+1G>C;ENST00000595022:exon13:c.1271+1G>C;ENST00000598142:exon13:c.1280+1G>C;ENST00000598774:exon13:c.1280+1G>C;ENST00000348997:exon14:c.1442+1G>C;ENST00000597599:exon12:c.1271+1G>C;ENST00000269191:exon14:c.1451+1G>C;ENST00000444659:exon14:c.1451+1G>C;ENST00000399113:exon14:c.1451+1G>C;ENST00000601125:exon5:c.317+1G>C;ENST00000269192:exon8:c.578+1G>C;ENST00000591182:exon6:c.395+1G>C;ENST00000556414:exon6:c.407+1G>C;ENST00000597674:exon5:c.317+1G>C;ENST00000599844:exon5:c.317+1G>C;ENST00000587723:exon4:c.248+1G>C)	.	.	0.999985532734767	0.938
18	32431893	G	T	18	34851929	y	y	splicing	DTNA(NM_001198945:exon8:c.701+1G>T;NM_032975:exon14:c.1280+1G>T;NM_032979:exon14:c.1280+1G>T;NM_001198940:exon13:c.1271+1G>T;NM_001198939:exon13:c.1271+1G>T;NM_001198938:exon13:c.1271+1G>T;NM_001198941:exon12:c.1271+1G>T;NM_032978:exon14:c.1442+1G>T;NM_001391:exon14:c.1451+1G>T;NM_001390:exon14:c.1451+1G>T;NM_001198943:exon5:c.521+1G>T;NM_001198944:exon6:c.407+1G>T;NM_001198942:exon8:c.578+1G>T;NM_032981:exon5:c.317+1G>T;NM_032980:exon6:c.395+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1280+1G>T;ENST00000596745:exon8:c.701+1G>T;ENST00000598334:exon13:c.1271+1G>T;ENST00000399121:exon13:c.1271+1G>T;ENST00000399097:exon14:c.395+1G>T;ENST00000269190:exon17:c.1454+1G>T;ENST00000595022:exon13:c.1271+1G>T;ENST00000598142:exon13:c.1280+1G>T;ENST00000598774:exon13:c.1280+1G>T;ENST00000348997:exon14:c.1442+1G>T;ENST00000597599:exon12:c.1271+1G>T;ENST00000269191:exon14:c.1451+1G>T;ENST00000444659:exon14:c.1451+1G>T;ENST00000399113:exon14:c.1451+1G>T;ENST00000601125:exon5:c.317+1G>T;ENST00000269192:exon8:c.578+1G>T;ENST00000591182:exon6:c.395+1G>T;ENST00000556414:exon6:c.407+1G>T;ENST00000597674:exon5:c.317+1G>T;ENST00000599844:exon5:c.317+1G>T;ENST00000587723:exon4:c.248+1G>T)	.	.	0.999985532734767	0.938
18	32431894	T	A	18	34851930	y	y	splicing	DTNA(NM_001198945:exon8:c.701+2T>A;NM_032975:exon14:c.1280+2T>A;NM_032979:exon14:c.1280+2T>A;NM_001198940:exon13:c.1271+2T>A;NM_001198939:exon13:c.1271+2T>A;NM_001198938:exon13:c.1271+2T>A;NM_001198941:exon12:c.1271+2T>A;NM_032978:exon14:c.1442+2T>A;NM_001391:exon14:c.1451+2T>A;NM_001390:exon14:c.1451+2T>A;NM_001198943:exon5:c.521+2T>A;NM_001198944:exon6:c.407+2T>A;NM_001198942:exon8:c.578+2T>A;NM_032981:exon5:c.317+2T>A;NM_032980:exon6:c.395+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1280+2T>A;ENST00000596745:exon8:c.701+2T>A;ENST00000598334:exon13:c.1271+2T>A;ENST00000399121:exon13:c.1271+2T>A;ENST00000399097:exon14:c.395+2T>A;ENST00000269190:exon17:c.1454+2T>A;ENST00000595022:exon13:c.1271+2T>A;ENST00000598142:exon13:c.1280+2T>A;ENST00000598774:exon13:c.1280+2T>A;ENST00000348997:exon14:c.1442+2T>A;ENST00000597599:exon12:c.1271+2T>A;ENST00000269191:exon14:c.1451+2T>A;ENST00000444659:exon14:c.1451+2T>A;ENST00000399113:exon14:c.1451+2T>A;ENST00000601125:exon5:c.317+2T>A;ENST00000269192:exon8:c.578+2T>A;ENST00000591182:exon6:c.395+2T>A;ENST00000556414:exon6:c.407+2T>A;ENST00000597674:exon5:c.317+2T>A;ENST00000599844:exon5:c.317+2T>A;ENST00000587723:exon4:c.248+2T>A)	.	.	0.999988247793601	0.93
18	32431894	T	C	18	34851930	y	y	splicing	DTNA(NM_001198945:exon8:c.701+2T>C;NM_032975:exon14:c.1280+2T>C;NM_032979:exon14:c.1280+2T>C;NM_001198940:exon13:c.1271+2T>C;NM_001198939:exon13:c.1271+2T>C;NM_001198938:exon13:c.1271+2T>C;NM_001198941:exon12:c.1271+2T>C;NM_032978:exon14:c.1442+2T>C;NM_001391:exon14:c.1451+2T>C;NM_001390:exon14:c.1451+2T>C;NM_001198943:exon5:c.521+2T>C;NM_001198944:exon6:c.407+2T>C;NM_001198942:exon8:c.578+2T>C;NM_032981:exon5:c.317+2T>C;NM_032980:exon6:c.395+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1280+2T>C;ENST00000596745:exon8:c.701+2T>C;ENST00000598334:exon13:c.1271+2T>C;ENST00000399121:exon13:c.1271+2T>C;ENST00000399097:exon14:c.395+2T>C;ENST00000269190:exon17:c.1454+2T>C;ENST00000595022:exon13:c.1271+2T>C;ENST00000598142:exon13:c.1280+2T>C;ENST00000598774:exon13:c.1280+2T>C;ENST00000348997:exon14:c.1442+2T>C;ENST00000597599:exon12:c.1271+2T>C;ENST00000269191:exon14:c.1451+2T>C;ENST00000444659:exon14:c.1451+2T>C;ENST00000399113:exon14:c.1451+2T>C;ENST00000601125:exon5:c.317+2T>C;ENST00000269192:exon8:c.578+2T>C;ENST00000591182:exon6:c.395+2T>C;ENST00000556414:exon6:c.407+2T>C;ENST00000597674:exon5:c.317+2T>C;ENST00000599844:exon5:c.317+2T>C;ENST00000587723:exon4:c.248+2T>C)	.	.	0.999929727175276	0.862
18	32431894	T	G	18	34851930	y	y	splicing	DTNA(NM_001198945:exon8:c.701+2T>G;NM_032975:exon14:c.1280+2T>G;NM_032979:exon14:c.1280+2T>G;NM_001198940:exon13:c.1271+2T>G;NM_001198939:exon13:c.1271+2T>G;NM_001198938:exon13:c.1271+2T>G;NM_001198941:exon12:c.1271+2T>G;NM_032978:exon14:c.1442+2T>G;NM_001391:exon14:c.1451+2T>G;NM_001390:exon14:c.1451+2T>G;NM_001198943:exon5:c.521+2T>G;NM_001198944:exon6:c.407+2T>G;NM_001198942:exon8:c.578+2T>G;NM_032981:exon5:c.317+2T>G;NM_032980:exon6:c.395+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon14:c.1280+2T>G;ENST00000596745:exon8:c.701+2T>G;ENST00000598334:exon13:c.1271+2T>G;ENST00000399121:exon13:c.1271+2T>G;ENST00000399097:exon14:c.395+2T>G;ENST00000269190:exon17:c.1454+2T>G;ENST00000595022:exon13:c.1271+2T>G;ENST00000598142:exon13:c.1280+2T>G;ENST00000598774:exon13:c.1280+2T>G;ENST00000348997:exon14:c.1442+2T>G;ENST00000597599:exon12:c.1271+2T>G;ENST00000269191:exon14:c.1451+2T>G;ENST00000444659:exon14:c.1451+2T>G;ENST00000399113:exon14:c.1451+2T>G;ENST00000601125:exon5:c.317+2T>G;ENST00000269192:exon8:c.578+2T>G;ENST00000591182:exon6:c.395+2T>G;ENST00000556414:exon6:c.407+2T>G;ENST00000597674:exon5:c.317+2T>G;ENST00000599844:exon5:c.317+2T>G;ENST00000587723:exon4:c.248+2T>G)	.	.	0.999988247793601	0.93
18	32431895	G	A	18	34851931	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.95828306308774E-5	0.004
18	32431895	G	C	18	34851931	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.248747166320243	0.414
18	32431895	G	T	18	34851931	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.488685702006156	0.478
18	32431896	A	C	18	34851932	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0851422905960473	0.312
18	32431896	A	G	18	34851932	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.331446389935087	0.448
18	32431896	A	T	18	34851932	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.901523130523476	0.44
18	32431897	G	A	18	34851933	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997758706726254	0.848
18	32431897	G	C	18	34851933	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.992269880837616	0.754
18	32431897	G	T	18	34851933	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.988146564125735	0.736
18	32431898	A	C	18	34851934	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.49910541138755E-4	0.01
18	32431898	A	G	18	34851934	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.50513804940285E-5	0.0
18	32431898	A	T	18	34851934	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.05406922390373E-5	0.01
18	32431899	C	A	18	34851935	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.58258912836982E-4	0.01
18	32431899	C	G	18	34851935	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.88212289402807E-4	0.008
18	32431899	C	T	18	34851935	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0014912118957188	0.032
18	32431900	T	A	18	34851936	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.51735079748414E-4	0.012
18	32431900	T	C	18	34851936	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.02671535584796E-4	0.026
18	32431900	T	G	18	34851936	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.72207089348926E-4	0.01
18	32438237	C	A	18	34858273	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0987163371753307	0.312
18	32438237	C	G	18	34858273	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0533922807931414	0.222
18	32438237	C	T	18	34858273	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0322063226183688	0.154
18	32438238	T	A	18	34858274	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998605697103654	0.886
18	32438238	T	C	18	34858274	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.975569597133047	0.662
18	32438238	T	G	18	34858274	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997682636332848	0.878
18	32438239	C	A	18	34858275	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.994115423018929	0.668
18	32438239	C	G	18	34858275	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.992231061705982	0.628
18	32438239	C	T	18	34858275	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.958702211736296	0.754
18	32438240	T	A	18	34858276	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.991085866543035	0.648
18	32438240	T	C	18	34858276	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.694726816276559	0.47
18	32438240	T	G	18	34858276	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.988658352510067	0.604
18	32438241	C	A	18	34858277	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0805556358126104	0.218
18	32438241	C	G	18	34858277	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.166648445955699	0.182
18	32438241	C	T	18	34858277	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00210303971154173	0.164
18	32438242	T	A	18	34858278	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.733101044890117	0.276
18	32438242	T	C	18	34858278	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.55486370758261E-4	0.114
18	32438242	T	G	18	34858278	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.673698992954699	0.252
18	32438243	C	A	18	34858279	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.919659939364873	0.618
18	32438243	C	G	18	34858279	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.97014141054484	0.624
18	32438243	C	T	18	34858279	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.381975149403543	0.352
18	32438244	C	A	18	34858280	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.166576523204685	0.296
18	32438244	C	G	18	34858280	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.41833465305819	0.32
18	32438244	C	T	18	34858280	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0034233357742755	0.078
18	32438245	C	A	18	34858281	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.63275524512436E-4	0.006
18	32438245	C	G	18	34858281	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.29913863175742E-4	0.048
18	32438245	C	T	18	34858281	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.6849394074134E-4	0.008
18	32438246	A	C	18	34858282	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0142331578559897	0.152
18	32438246	A	G	18	34858282	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.977307468581419	0.706
18	32438246	A	T	18	34858282	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.100987277433736	0.352
18	32438247	A	C	18	34858283	y	y	splicing	DTNA(NM_001198945:exon9:c.702-2A>C;NM_032975:exon15:c.1281-2A>C;NM_032979:exon15:c.1281-2A>C;NM_001198940:exon14:c.1272-2A>C;NM_001198939:exon14:c.1272-2A>C;NM_001198938:exon14:c.1272-2A>C;NM_001198941:exon13:c.1272-2A>C;NM_032978:exon15:c.1443-2A>C;NM_001391:exon15:c.1452-2A>C;NM_001390:exon15:c.1452-2A>C;NM_001198943:exon6:c.522-2A>C;NM_001198944:exon7:c.408-2A>C;NM_001198942:exon9:c.579-2A>C;NM_032981:exon6:c.318-2A>C;NM_032980:exon7:c.396-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1281-2A>C;ENST00000596745:exon9:c.702-2A>C;ENST00000598334:exon14:c.1272-2A>C;ENST00000399121:exon14:c.1272-2A>C;ENST00000399097:exon15:c.396-2A>C;ENST00000269190:exon18:c.1455-2A>C;ENST00000595022:exon14:c.1272-2A>C;ENST00000598142:exon14:c.1281-2A>C;ENST00000598774:exon14:c.1281-2A>C;ENST00000348997:exon15:c.1443-2A>C;ENST00000597599:exon13:c.1272-2A>C;ENST00000269191:exon15:c.1452-2A>C;ENST00000444659:exon15:c.1452-2A>C;ENST00000399113:exon15:c.1452-2A>C;ENST00000601125:exon6:c.318-2A>C;ENST00000269192:exon9:c.579-2A>C;ENST00000591182:exon7:c.396-2A>C;ENST00000556414:exon7:c.408-2A>C;ENST00000597674:exon6:c.318-2A>C;ENST00000599844:exon6:c.318-2A>C;ENST00000587723:exon5:c.249-2A>C)	.	.	0.999988247793601	0.954
18	32438247	A	G	18	34858283	y	y	splicing	DTNA(NM_001198945:exon9:c.702-2A>G;NM_032975:exon15:c.1281-2A>G;NM_032979:exon15:c.1281-2A>G;NM_001198940:exon14:c.1272-2A>G;NM_001198939:exon14:c.1272-2A>G;NM_001198938:exon14:c.1272-2A>G;NM_001198941:exon13:c.1272-2A>G;NM_032978:exon15:c.1443-2A>G;NM_001391:exon15:c.1452-2A>G;NM_001390:exon15:c.1452-2A>G;NM_001198943:exon6:c.522-2A>G;NM_001198944:exon7:c.408-2A>G;NM_001198942:exon9:c.579-2A>G;NM_032981:exon6:c.318-2A>G;NM_032980:exon7:c.396-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1281-2A>G;ENST00000596745:exon9:c.702-2A>G;ENST00000598334:exon14:c.1272-2A>G;ENST00000399121:exon14:c.1272-2A>G;ENST00000399097:exon15:c.396-2A>G;ENST00000269190:exon18:c.1455-2A>G;ENST00000595022:exon14:c.1272-2A>G;ENST00000598142:exon14:c.1281-2A>G;ENST00000598774:exon14:c.1281-2A>G;ENST00000348997:exon15:c.1443-2A>G;ENST00000597599:exon13:c.1272-2A>G;ENST00000269191:exon15:c.1452-2A>G;ENST00000444659:exon15:c.1452-2A>G;ENST00000399113:exon15:c.1452-2A>G;ENST00000601125:exon6:c.318-2A>G;ENST00000269192:exon9:c.579-2A>G;ENST00000591182:exon7:c.396-2A>G;ENST00000556414:exon7:c.408-2A>G;ENST00000597674:exon6:c.318-2A>G;ENST00000599844:exon6:c.318-2A>G;ENST00000587723:exon5:c.249-2A>G)	.	.	0.999988247793601	0.954
18	32438247	A	T	18	34858283	y	y	splicing	DTNA(NM_001198945:exon9:c.702-2A>T;NM_032975:exon15:c.1281-2A>T;NM_032979:exon15:c.1281-2A>T;NM_001198940:exon14:c.1272-2A>T;NM_001198939:exon14:c.1272-2A>T;NM_001198938:exon14:c.1272-2A>T;NM_001198941:exon13:c.1272-2A>T;NM_032978:exon15:c.1443-2A>T;NM_001391:exon15:c.1452-2A>T;NM_001390:exon15:c.1452-2A>T;NM_001198943:exon6:c.522-2A>T;NM_001198944:exon7:c.408-2A>T;NM_001198942:exon9:c.579-2A>T;NM_032981:exon6:c.318-2A>T;NM_032980:exon7:c.396-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1281-2A>T;ENST00000596745:exon9:c.702-2A>T;ENST00000598334:exon14:c.1272-2A>T;ENST00000399121:exon14:c.1272-2A>T;ENST00000399097:exon15:c.396-2A>T;ENST00000269190:exon18:c.1455-2A>T;ENST00000595022:exon14:c.1272-2A>T;ENST00000598142:exon14:c.1281-2A>T;ENST00000598774:exon14:c.1281-2A>T;ENST00000348997:exon15:c.1443-2A>T;ENST00000597599:exon13:c.1272-2A>T;ENST00000269191:exon15:c.1452-2A>T;ENST00000444659:exon15:c.1452-2A>T;ENST00000399113:exon15:c.1452-2A>T;ENST00000601125:exon6:c.318-2A>T;ENST00000269192:exon9:c.579-2A>T;ENST00000591182:exon7:c.396-2A>T;ENST00000556414:exon7:c.408-2A>T;ENST00000597674:exon6:c.318-2A>T;ENST00000599844:exon6:c.318-2A>T;ENST00000587723:exon5:c.249-2A>T)	.	.	0.999988247793601	0.954
18	32438248	G	A	18	34858284	y	y	splicing	DTNA(NM_001198945:exon9:c.702-1G>A;NM_032975:exon15:c.1281-1G>A;NM_032979:exon15:c.1281-1G>A;NM_001198940:exon14:c.1272-1G>A;NM_001198939:exon14:c.1272-1G>A;NM_001198938:exon14:c.1272-1G>A;NM_001198941:exon13:c.1272-1G>A;NM_032978:exon15:c.1443-1G>A;NM_001391:exon15:c.1452-1G>A;NM_001390:exon15:c.1452-1G>A;NM_001198943:exon6:c.522-1G>A;NM_001198944:exon7:c.408-1G>A;NM_001198942:exon9:c.579-1G>A;NM_032981:exon6:c.318-1G>A;NM_032980:exon7:c.396-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1281-1G>A;ENST00000596745:exon9:c.702-1G>A;ENST00000598334:exon14:c.1272-1G>A;ENST00000399121:exon14:c.1272-1G>A;ENST00000399097:exon15:c.396-1G>A;ENST00000269190:exon18:c.1455-1G>A;ENST00000595022:exon14:c.1272-1G>A;ENST00000598142:exon14:c.1281-1G>A;ENST00000598774:exon14:c.1281-1G>A;ENST00000348997:exon15:c.1443-1G>A;ENST00000597599:exon13:c.1272-1G>A;ENST00000269191:exon15:c.1452-1G>A;ENST00000444659:exon15:c.1452-1G>A;ENST00000399113:exon15:c.1452-1G>A;ENST00000601125:exon6:c.318-1G>A;ENST00000269192:exon9:c.579-1G>A;ENST00000591182:exon7:c.396-1G>A;ENST00000556414:exon7:c.408-1G>A;ENST00000597674:exon6:c.318-1G>A;ENST00000599844:exon6:c.318-1G>A;ENST00000587723:exon5:c.249-1G>A)	.	.	0.999990361384395	0.952
18	32438248	G	C	18	34858284	y	y	splicing	DTNA(NM_001198945:exon9:c.702-1G>C;NM_032975:exon15:c.1281-1G>C;NM_032979:exon15:c.1281-1G>C;NM_001198940:exon14:c.1272-1G>C;NM_001198939:exon14:c.1272-1G>C;NM_001198938:exon14:c.1272-1G>C;NM_001198941:exon13:c.1272-1G>C;NM_032978:exon15:c.1443-1G>C;NM_001391:exon15:c.1452-1G>C;NM_001390:exon15:c.1452-1G>C;NM_001198943:exon6:c.522-1G>C;NM_001198944:exon7:c.408-1G>C;NM_001198942:exon9:c.579-1G>C;NM_032981:exon6:c.318-1G>C;NM_032980:exon7:c.396-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1281-1G>C;ENST00000596745:exon9:c.702-1G>C;ENST00000598334:exon14:c.1272-1G>C;ENST00000399121:exon14:c.1272-1G>C;ENST00000399097:exon15:c.396-1G>C;ENST00000269190:exon18:c.1455-1G>C;ENST00000595022:exon14:c.1272-1G>C;ENST00000598142:exon14:c.1281-1G>C;ENST00000598774:exon14:c.1281-1G>C;ENST00000348997:exon15:c.1443-1G>C;ENST00000597599:exon13:c.1272-1G>C;ENST00000269191:exon15:c.1452-1G>C;ENST00000444659:exon15:c.1452-1G>C;ENST00000399113:exon15:c.1452-1G>C;ENST00000601125:exon6:c.318-1G>C;ENST00000269192:exon9:c.579-1G>C;ENST00000591182:exon7:c.396-1G>C;ENST00000556414:exon7:c.408-1G>C;ENST00000597674:exon6:c.318-1G>C;ENST00000599844:exon6:c.318-1G>C;ENST00000587723:exon5:c.249-1G>C)	.	.	0.999990361384395	0.952
18	32438248	G	T	18	34858284	y	y	splicing	DTNA(NM_001198945:exon9:c.702-1G>T;NM_032975:exon15:c.1281-1G>T;NM_032979:exon15:c.1281-1G>T;NM_001198940:exon14:c.1272-1G>T;NM_001198939:exon14:c.1272-1G>T;NM_001198938:exon14:c.1272-1G>T;NM_001198941:exon13:c.1272-1G>T;NM_032978:exon15:c.1443-1G>T;NM_001391:exon15:c.1452-1G>T;NM_001390:exon15:c.1452-1G>T;NM_001198943:exon6:c.522-1G>T;NM_001198944:exon7:c.408-1G>T;NM_001198942:exon9:c.579-1G>T;NM_032981:exon6:c.318-1G>T;NM_032980:exon7:c.396-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1281-1G>T;ENST00000596745:exon9:c.702-1G>T;ENST00000598334:exon14:c.1272-1G>T;ENST00000399121:exon14:c.1272-1G>T;ENST00000399097:exon15:c.396-1G>T;ENST00000269190:exon18:c.1455-1G>T;ENST00000595022:exon14:c.1272-1G>T;ENST00000598142:exon14:c.1281-1G>T;ENST00000598774:exon14:c.1281-1G>T;ENST00000348997:exon15:c.1443-1G>T;ENST00000597599:exon13:c.1272-1G>T;ENST00000269191:exon15:c.1452-1G>T;ENST00000444659:exon15:c.1452-1G>T;ENST00000399113:exon15:c.1452-1G>T;ENST00000601125:exon6:c.318-1G>T;ENST00000269192:exon9:c.579-1G>T;ENST00000591182:exon7:c.396-1G>T;ENST00000556414:exon7:c.408-1G>T;ENST00000597674:exon6:c.318-1G>T;ENST00000599844:exon6:c.318-1G>T;ENST00000587723:exon5:c.249-1G>T)	.	.	0.999990361384395	0.952
18	32438249	A	C	18	34858285	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon15:c.A1281C:p.R427S;DTNA:NM_032978:exon15:c.A1443C:p.R481S;DTNA:NM_001390:exon15:c.A1452C:p.R484S;DTNA:NM_001198938:exon14:c.A1272C:p.R424S;DTNA:NM_001198945:exon9:c.A702C:p.R234S;DTNA:NM_001198943:exon6:c.A522C:p.R174S;DTNA:NM_001198942:exon9:c.A579C:p.R193S;DTNA:NM_001198944:exon7:c.A408C:p.R136S;DTNA:NM_001391:exon15:c.A1452C:p.R484S;DTNA:NM_032981:exon6:c.A318C:p.R106S;DTNA:NM_001198940:exon14:c.A1272C:p.R424S;DTNA:NM_001198939:exon14:c.A1272C:p.R424S;DTNA:NM_001198941:exon13:c.A1272C:p.R424S;DTNA:NM_032980:exon7:c.A396C:p.R132S;DTNA:NM_032975:exon15:c.A1281C:p.R427S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.A1443C:p.R481S;ENSG00000134769:ENST00000399097:exon15:c.A396C:p.R132S;ENSG00000134769:ENST00000598334:exon14:c.A1272C:p.R424S;ENSG00000134769:ENST00000595022:exon14:c.A1272C:p.R424S;ENSG00000134769:ENST00000444659:exon15:c.A1452C:p.R484S;ENSG00000134769:ENST00000269191:exon15:c.A1452C:p.R484S;ENSG00000134769:ENST00000283365:exon15:c.A1281C:p.R427S;ENSG00000134769:ENST00000399113:exon15:c.A1452C:p.R484S;ENSG00000134769:ENST00000599844:exon6:c.A318C:p.R106S;ENSG00000134769:ENST00000556414:exon7:c.A408C:p.R136S;ENSG00000134769:ENST00000269190:exon18:c.A1455C:p.R485S;ENSG00000134769:ENST00000399121:exon14:c.A1272C:p.R424S;ENSG00000134769:ENST00000587723:exon5:c.A249C:p.R83S;ENSG00000134769:ENST00000269192:exon9:c.A579C:p.R193S;ENSG00000134769:ENST00000597599:exon13:c.A1272C:p.R424S;ENSG00000134769:ENST00000596745:exon9:c.A702C:p.R234S;ENSG00000134769:ENST00000597674:exon6:c.A318C:p.R106S;ENSG00000134769:ENST00000591182:exon7:c.A396C:p.R132S;ENSG00000134769:ENST00000598774:exon14:c.A1281C:p.R427S;ENSG00000134769:ENST00000598142:exon14:c.A1281C:p.R427S;ENSG00000134769:ENST00000601125:exon6:c.A318C:p.R106S;	0.858973726566063	0.588
18	32438249	A	G	18	34858285	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon15:c.A1281G:p.R427R;DTNA:NM_032978:exon15:c.A1443G:p.R481R;DTNA:NM_001390:exon15:c.A1452G:p.R484R;DTNA:NM_001198938:exon14:c.A1272G:p.R424R;DTNA:NM_001198945:exon9:c.A702G:p.R234R;DTNA:NM_001198943:exon6:c.A522G:p.R174R;DTNA:NM_001198942:exon9:c.A579G:p.R193R;DTNA:NM_001198944:exon7:c.A408G:p.R136R;DTNA:NM_001391:exon15:c.A1452G:p.R484R;DTNA:NM_032981:exon6:c.A318G:p.R106R;DTNA:NM_001198940:exon14:c.A1272G:p.R424R;DTNA:NM_001198939:exon14:c.A1272G:p.R424R;DTNA:NM_001198941:exon13:c.A1272G:p.R424R;DTNA:NM_032980:exon7:c.A396G:p.R132R;DTNA:NM_032975:exon15:c.A1281G:p.R427R;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.A1443G:p.R481R;ENSG00000134769:ENST00000399097:exon15:c.A396G:p.R132R;ENSG00000134769:ENST00000598334:exon14:c.A1272G:p.R424R;ENSG00000134769:ENST00000595022:exon14:c.A1272G:p.R424R;ENSG00000134769:ENST00000444659:exon15:c.A1452G:p.R484R;ENSG00000134769:ENST00000269191:exon15:c.A1452G:p.R484R;ENSG00000134769:ENST00000283365:exon15:c.A1281G:p.R427R;ENSG00000134769:ENST00000399113:exon15:c.A1452G:p.R484R;ENSG00000134769:ENST00000599844:exon6:c.A318G:p.R106R;ENSG00000134769:ENST00000556414:exon7:c.A408G:p.R136R;ENSG00000134769:ENST00000269190:exon18:c.A1455G:p.R485R;ENSG00000134769:ENST00000399121:exon14:c.A1272G:p.R424R;ENSG00000134769:ENST00000587723:exon5:c.A249G:p.R83R;ENSG00000134769:ENST00000269192:exon9:c.A579G:p.R193R;ENSG00000134769:ENST00000597599:exon13:c.A1272G:p.R424R;ENSG00000134769:ENST00000596745:exon9:c.A702G:p.R234R;ENSG00000134769:ENST00000597674:exon6:c.A318G:p.R106R;ENSG00000134769:ENST00000591182:exon7:c.A396G:p.R132R;ENSG00000134769:ENST00000598774:exon14:c.A1281G:p.R427R;ENSG00000134769:ENST00000598142:exon14:c.A1281G:p.R427R;ENSG00000134769:ENST00000601125:exon6:c.A318G:p.R106R;	0.0244544664722665	0.268
18	32438249	A	T	18	34858285	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon15:c.A1281T:p.R427S;DTNA:NM_032978:exon15:c.A1443T:p.R481S;DTNA:NM_001390:exon15:c.A1452T:p.R484S;DTNA:NM_001198938:exon14:c.A1272T:p.R424S;DTNA:NM_001198945:exon9:c.A702T:p.R234S;DTNA:NM_001198943:exon6:c.A522T:p.R174S;DTNA:NM_001198942:exon9:c.A579T:p.R193S;DTNA:NM_001198944:exon7:c.A408T:p.R136S;DTNA:NM_001391:exon15:c.A1452T:p.R484S;DTNA:NM_032981:exon6:c.A318T:p.R106S;DTNA:NM_001198940:exon14:c.A1272T:p.R424S;DTNA:NM_001198939:exon14:c.A1272T:p.R424S;DTNA:NM_001198941:exon13:c.A1272T:p.R424S;DTNA:NM_032980:exon7:c.A396T:p.R132S;DTNA:NM_032975:exon15:c.A1281T:p.R427S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.A1443T:p.R481S;ENSG00000134769:ENST00000399097:exon15:c.A396T:p.R132S;ENSG00000134769:ENST00000598334:exon14:c.A1272T:p.R424S;ENSG00000134769:ENST00000595022:exon14:c.A1272T:p.R424S;ENSG00000134769:ENST00000444659:exon15:c.A1452T:p.R484S;ENSG00000134769:ENST00000269191:exon15:c.A1452T:p.R484S;ENSG00000134769:ENST00000283365:exon15:c.A1281T:p.R427S;ENSG00000134769:ENST00000399113:exon15:c.A1452T:p.R484S;ENSG00000134769:ENST00000599844:exon6:c.A318T:p.R106S;ENSG00000134769:ENST00000556414:exon7:c.A408T:p.R136S;ENSG00000134769:ENST00000269190:exon18:c.A1455T:p.R485S;ENSG00000134769:ENST00000399121:exon14:c.A1272T:p.R424S;ENSG00000134769:ENST00000587723:exon5:c.A249T:p.R83S;ENSG00000134769:ENST00000269192:exon9:c.A579T:p.R193S;ENSG00000134769:ENST00000597599:exon13:c.A1272T:p.R424S;ENSG00000134769:ENST00000596745:exon9:c.A702T:p.R234S;ENSG00000134769:ENST00000597674:exon6:c.A318T:p.R106S;ENSG00000134769:ENST00000591182:exon7:c.A396T:p.R132S;ENSG00000134769:ENST00000598774:exon14:c.A1281T:p.R427S;ENSG00000134769:ENST00000598142:exon14:c.A1281T:p.R427S;ENSG00000134769:ENST00000601125:exon6:c.A318T:p.R106S;	0.858973726566063	0.538
18	32438250	G	A	18	34858286	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon15:c.G1282A:p.E428K;DTNA:NM_032978:exon15:c.G1444A:p.E482K;DTNA:NM_001390:exon15:c.G1453A:p.E485K;DTNA:NM_001198938:exon14:c.G1273A:p.E425K;DTNA:NM_001198945:exon9:c.G703A:p.E235K;DTNA:NM_001198943:exon6:c.G523A:p.E175K;DTNA:NM_001198942:exon9:c.G580A:p.E194K;DTNA:NM_001198944:exon7:c.G409A:p.E137K;DTNA:NM_001391:exon15:c.G1453A:p.E485K;DTNA:NM_032981:exon6:c.G319A:p.E107K;DTNA:NM_001198940:exon14:c.G1273A:p.E425K;DTNA:NM_001198939:exon14:c.G1273A:p.E425K;DTNA:NM_001198941:exon13:c.G1273A:p.E425K;DTNA:NM_032980:exon7:c.G397A:p.E133K;DTNA:NM_032975:exon15:c.G1282A:p.E428K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.G1444A:p.E482K;ENSG00000134769:ENST00000399097:exon15:c.G397A:p.E133K;ENSG00000134769:ENST00000598334:exon14:c.G1273A:p.E425K;ENSG00000134769:ENST00000595022:exon14:c.G1273A:p.E425K;ENSG00000134769:ENST00000444659:exon15:c.G1453A:p.E485K;ENSG00000134769:ENST00000269191:exon15:c.G1453A:p.E485K;ENSG00000134769:ENST00000283365:exon15:c.G1282A:p.E428K;ENSG00000134769:ENST00000399113:exon15:c.G1453A:p.E485K;ENSG00000134769:ENST00000599844:exon6:c.G319A:p.E107K;ENSG00000134769:ENST00000556414:exon7:c.G409A:p.E137K;ENSG00000134769:ENST00000269190:exon18:c.G1456A:p.E486K;ENSG00000134769:ENST00000399121:exon14:c.G1273A:p.E425K;ENSG00000134769:ENST00000587723:exon5:c.G250A:p.E84K;ENSG00000134769:ENST00000269192:exon9:c.G580A:p.E194K;ENSG00000134769:ENST00000597599:exon13:c.G1273A:p.E425K;ENSG00000134769:ENST00000596745:exon9:c.G703A:p.E235K;ENSG00000134769:ENST00000597674:exon6:c.G319A:p.E107K;ENSG00000134769:ENST00000591182:exon7:c.G397A:p.E133K;ENSG00000134769:ENST00000598774:exon14:c.G1282A:p.E428K;ENSG00000134769:ENST00000598142:exon14:c.G1282A:p.E428K;ENSG00000134769:ENST00000601125:exon6:c.G319A:p.E107K;	0.997769499410307	0.906
18	32438250	G	C	18	34858286	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon15:c.G1282C:p.E428Q;DTNA:NM_032978:exon15:c.G1444C:p.E482Q;DTNA:NM_001390:exon15:c.G1453C:p.E485Q;DTNA:NM_001198938:exon14:c.G1273C:p.E425Q;DTNA:NM_001198945:exon9:c.G703C:p.E235Q;DTNA:NM_001198943:exon6:c.G523C:p.E175Q;DTNA:NM_001198942:exon9:c.G580C:p.E194Q;DTNA:NM_001198944:exon7:c.G409C:p.E137Q;DTNA:NM_001391:exon15:c.G1453C:p.E485Q;DTNA:NM_032981:exon6:c.G319C:p.E107Q;DTNA:NM_001198940:exon14:c.G1273C:p.E425Q;DTNA:NM_001198939:exon14:c.G1273C:p.E425Q;DTNA:NM_001198941:exon13:c.G1273C:p.E425Q;DTNA:NM_032980:exon7:c.G397C:p.E133Q;DTNA:NM_032975:exon15:c.G1282C:p.E428Q;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.G1444C:p.E482Q;ENSG00000134769:ENST00000399097:exon15:c.G397C:p.E133Q;ENSG00000134769:ENST00000598334:exon14:c.G1273C:p.E425Q;ENSG00000134769:ENST00000595022:exon14:c.G1273C:p.E425Q;ENSG00000134769:ENST00000444659:exon15:c.G1453C:p.E485Q;ENSG00000134769:ENST00000269191:exon15:c.G1453C:p.E485Q;ENSG00000134769:ENST00000283365:exon15:c.G1282C:p.E428Q;ENSG00000134769:ENST00000399113:exon15:c.G1453C:p.E485Q;ENSG00000134769:ENST00000599844:exon6:c.G319C:p.E107Q;ENSG00000134769:ENST00000556414:exon7:c.G409C:p.E137Q;ENSG00000134769:ENST00000269190:exon18:c.G1456C:p.E486Q;ENSG00000134769:ENST00000399121:exon14:c.G1273C:p.E425Q;ENSG00000134769:ENST00000587723:exon5:c.G250C:p.E84Q;ENSG00000134769:ENST00000269192:exon9:c.G580C:p.E194Q;ENSG00000134769:ENST00000597599:exon13:c.G1273C:p.E425Q;ENSG00000134769:ENST00000596745:exon9:c.G703C:p.E235Q;ENSG00000134769:ENST00000597674:exon6:c.G319C:p.E107Q;ENSG00000134769:ENST00000591182:exon7:c.G397C:p.E133Q;ENSG00000134769:ENST00000598774:exon14:c.G1282C:p.E428Q;ENSG00000134769:ENST00000598142:exon14:c.G1282C:p.E428Q;ENSG00000134769:ENST00000601125:exon6:c.G319C:p.E107Q;	0.992455260007446	0.9
18	32438250	G	T	18	34858286	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon15:c.G1282T:p.E428X;DTNA:NM_032978:exon15:c.G1444T:p.E482X;DTNA:NM_001390:exon15:c.G1453T:p.E485X;DTNA:NM_001198938:exon14:c.G1273T:p.E425X;DTNA:NM_001198945:exon9:c.G703T:p.E235X;DTNA:NM_001198943:exon6:c.G523T:p.E175X;DTNA:NM_001198942:exon9:c.G580T:p.E194X;DTNA:NM_001198944:exon7:c.G409T:p.E137X;DTNA:NM_001391:exon15:c.G1453T:p.E485X;DTNA:NM_032981:exon6:c.G319T:p.E107X;DTNA:NM_001198940:exon14:c.G1273T:p.E425X;DTNA:NM_001198939:exon14:c.G1273T:p.E425X;DTNA:NM_001198941:exon13:c.G1273T:p.E425X;DTNA:NM_032980:exon7:c.G397T:p.E133X;DTNA:NM_032975:exon15:c.G1282T:p.E428X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon15:c.G1444T:p.E482X;ENSG00000134769:ENST00000399097:exon15:c.G397T:p.E133X;ENSG00000134769:ENST00000598334:exon14:c.G1273T:p.E425X;ENSG00000134769:ENST00000595022:exon14:c.G1273T:p.E425X;ENSG00000134769:ENST00000444659:exon15:c.G1453T:p.E485X;ENSG00000134769:ENST00000269191:exon15:c.G1453T:p.E485X;ENSG00000134769:ENST00000283365:exon15:c.G1282T:p.E428X;ENSG00000134769:ENST00000399113:exon15:c.G1453T:p.E485X;ENSG00000134769:ENST00000599844:exon6:c.G319T:p.E107X;ENSG00000134769:ENST00000556414:exon7:c.G409T:p.E137X;ENSG00000134769:ENST00000269190:exon18:c.G1456T:p.E486X;ENSG00000134769:ENST00000399121:exon14:c.G1273T:p.E425X;ENSG00000134769:ENST00000587723:exon5:c.G250T:p.E84X;ENSG00000134769:ENST00000269192:exon9:c.G580T:p.E194X;ENSG00000134769:ENST00000597599:exon13:c.G1273T:p.E425X;ENSG00000134769:ENST00000596745:exon9:c.G703T:p.E235X;ENSG00000134769:ENST00000597674:exon6:c.G319T:p.E107X;ENSG00000134769:ENST00000591182:exon7:c.G397T:p.E133X;ENSG00000134769:ENST00000598774:exon14:c.G1282T:p.E428X;ENSG00000134769:ENST00000598142:exon14:c.G1282T:p.E428X;ENSG00000134769:ENST00000601125:exon6:c.G319T:p.E107X;	0.98628329272932	0.876
18	32438360	C	A	18	34858396	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon15:c.C1392A:p.L464L;DTNA:NM_032978:exon15:c.C1554A:p.L518L;DTNA:NM_001390:exon15:c.C1563A:p.L521L;DTNA:NM_001198938:exon14:c.C1383A:p.L461L;DTNA:NM_001198945:exon9:c.C813A:p.L271L;DTNA:NM_001198943:exon6:c.C633A:p.L211L;DTNA:NM_001198942:exon9:c.C690A:p.L230L;DTNA:NM_001198944:exon7:c.C519A:p.L173L;DTNA:NM_001391:exon15:c.C1563A:p.L521L;DTNA:NM_032981:exon6:c.C429A:p.L143L;DTNA:NM_001198940:exon14:c.C1383A:p.L461L;DTNA:NM_001198939:exon14:c.C1383A:p.L461L;DTNA:NM_001198941:exon13:c.C1383A:p.L461L;DTNA:NM_032980:exon7:c.C507A:p.L169L;DTNA:NM_032975:exon15:c.C1392A:p.L464L;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.C1554A:p.L518L;ENSG00000134769:ENST00000399097:exon15:c.C507A:p.L169L;ENSG00000134769:ENST00000598334:exon14:c.C1383A:p.L461L;ENSG00000134769:ENST00000595022:exon14:c.C1383A:p.L461L;ENSG00000134769:ENST00000444659:exon15:c.C1563A:p.L521L;ENSG00000134769:ENST00000269191:exon15:c.C1563A:p.L521L;ENSG00000134769:ENST00000283365:exon15:c.C1392A:p.L464L;ENSG00000134769:ENST00000399113:exon15:c.C1563A:p.L521L;ENSG00000134769:ENST00000599844:exon6:c.C429A:p.L143L;ENSG00000134769:ENST00000556414:exon7:c.C519A:p.L173L;ENSG00000134769:ENST00000269190:exon18:c.C1566A:p.L522L;ENSG00000134769:ENST00000399121:exon14:c.C1383A:p.L461L;ENSG00000134769:ENST00000269192:exon9:c.C690A:p.L230L;ENSG00000134769:ENST00000597599:exon13:c.C1383A:p.L461L;ENSG00000134769:ENST00000596745:exon9:c.C813A:p.L271L;ENSG00000134769:ENST00000597674:exon6:c.C429A:p.L143L;ENSG00000134769:ENST00000591182:exon7:c.C507A:p.L169L;ENSG00000134769:ENST00000598774:exon14:c.C1392A:p.L464L;ENSG00000134769:ENST00000598142:exon14:c.C1392A:p.L464L;ENSG00000134769:ENST00000601125:exon6:c.C429A:p.L143L;	0.0572168572025501	0.174
18	32438360	C	G	18	34858396	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon15:c.C1392G:p.L464L;DTNA:NM_032978:exon15:c.C1554G:p.L518L;DTNA:NM_001390:exon15:c.C1563G:p.L521L;DTNA:NM_001198938:exon14:c.C1383G:p.L461L;DTNA:NM_001198945:exon9:c.C813G:p.L271L;DTNA:NM_001198943:exon6:c.C633G:p.L211L;DTNA:NM_001198942:exon9:c.C690G:p.L230L;DTNA:NM_001198944:exon7:c.C519G:p.L173L;DTNA:NM_001391:exon15:c.C1563G:p.L521L;DTNA:NM_032981:exon6:c.C429G:p.L143L;DTNA:NM_001198940:exon14:c.C1383G:p.L461L;DTNA:NM_001198939:exon14:c.C1383G:p.L461L;DTNA:NM_001198941:exon13:c.C1383G:p.L461L;DTNA:NM_032980:exon7:c.C507G:p.L169L;DTNA:NM_032975:exon15:c.C1392G:p.L464L;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.C1554G:p.L518L;ENSG00000134769:ENST00000399097:exon15:c.C507G:p.L169L;ENSG00000134769:ENST00000598334:exon14:c.C1383G:p.L461L;ENSG00000134769:ENST00000595022:exon14:c.C1383G:p.L461L;ENSG00000134769:ENST00000444659:exon15:c.C1563G:p.L521L;ENSG00000134769:ENST00000269191:exon15:c.C1563G:p.L521L;ENSG00000134769:ENST00000283365:exon15:c.C1392G:p.L464L;ENSG00000134769:ENST00000399113:exon15:c.C1563G:p.L521L;ENSG00000134769:ENST00000599844:exon6:c.C429G:p.L143L;ENSG00000134769:ENST00000556414:exon7:c.C519G:p.L173L;ENSG00000134769:ENST00000269190:exon18:c.C1566G:p.L522L;ENSG00000134769:ENST00000399121:exon14:c.C1383G:p.L461L;ENSG00000134769:ENST00000269192:exon9:c.C690G:p.L230L;ENSG00000134769:ENST00000597599:exon13:c.C1383G:p.L461L;ENSG00000134769:ENST00000596745:exon9:c.C813G:p.L271L;ENSG00000134769:ENST00000597674:exon6:c.C429G:p.L143L;ENSG00000134769:ENST00000591182:exon7:c.C507G:p.L169L;ENSG00000134769:ENST00000598774:exon14:c.C1392G:p.L464L;ENSG00000134769:ENST00000598142:exon14:c.C1392G:p.L464L;ENSG00000134769:ENST00000601125:exon6:c.C429G:p.L143L;	0.0828608669605726	0.254
18	32438360	C	T	18	34858396	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon15:c.C1392T:p.L464L;DTNA:NM_032978:exon15:c.C1554T:p.L518L;DTNA:NM_001390:exon15:c.C1563T:p.L521L;DTNA:NM_001198938:exon14:c.C1383T:p.L461L;DTNA:NM_001198945:exon9:c.C813T:p.L271L;DTNA:NM_001198943:exon6:c.C633T:p.L211L;DTNA:NM_001198942:exon9:c.C690T:p.L230L;DTNA:NM_001198944:exon7:c.C519T:p.L173L;DTNA:NM_001391:exon15:c.C1563T:p.L521L;DTNA:NM_032981:exon6:c.C429T:p.L143L;DTNA:NM_001198940:exon14:c.C1383T:p.L461L;DTNA:NM_001198939:exon14:c.C1383T:p.L461L;DTNA:NM_001198941:exon13:c.C1383T:p.L461L;DTNA:NM_032980:exon7:c.C507T:p.L169L;DTNA:NM_032975:exon15:c.C1392T:p.L464L;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.C1554T:p.L518L;ENSG00000134769:ENST00000399097:exon15:c.C507T:p.L169L;ENSG00000134769:ENST00000598334:exon14:c.C1383T:p.L461L;ENSG00000134769:ENST00000595022:exon14:c.C1383T:p.L461L;ENSG00000134769:ENST00000444659:exon15:c.C1563T:p.L521L;ENSG00000134769:ENST00000269191:exon15:c.C1563T:p.L521L;ENSG00000134769:ENST00000283365:exon15:c.C1392T:p.L464L;ENSG00000134769:ENST00000399113:exon15:c.C1563T:p.L521L;ENSG00000134769:ENST00000599844:exon6:c.C429T:p.L143L;ENSG00000134769:ENST00000556414:exon7:c.C519T:p.L173L;ENSG00000134769:ENST00000269190:exon18:c.C1566T:p.L522L;ENSG00000134769:ENST00000399121:exon14:c.C1383T:p.L461L;ENSG00000134769:ENST00000269192:exon9:c.C690T:p.L230L;ENSG00000134769:ENST00000597599:exon13:c.C1383T:p.L461L;ENSG00000134769:ENST00000596745:exon9:c.C813T:p.L271L;ENSG00000134769:ENST00000597674:exon6:c.C429T:p.L143L;ENSG00000134769:ENST00000591182:exon7:c.C507T:p.L169L;ENSG00000134769:ENST00000598774:exon14:c.C1392T:p.L464L;ENSG00000134769:ENST00000598142:exon14:c.C1392T:p.L464L;ENSG00000134769:ENST00000601125:exon6:c.C429T:p.L143L;	0.950130467619061	0.854
18	32438361	A	C	18	34858397	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon15:c.A1393C:p.R465R;DTNA:NM_032978:exon15:c.A1555C:p.R519R;DTNA:NM_001390:exon15:c.A1564C:p.R522R;DTNA:NM_001198938:exon14:c.A1384C:p.R462R;DTNA:NM_001198945:exon9:c.A814C:p.R272R;DTNA:NM_001198943:exon6:c.A634C:p.R212R;DTNA:NM_001198942:exon9:c.A691C:p.R231R;DTNA:NM_001198944:exon7:c.A520C:p.R174R;DTNA:NM_001391:exon15:c.A1564C:p.R522R;DTNA:NM_032981:exon6:c.A430C:p.R144R;DTNA:NM_001198940:exon14:c.A1384C:p.R462R;DTNA:NM_001198939:exon14:c.A1384C:p.R462R;DTNA:NM_001198941:exon13:c.A1384C:p.R462R;DTNA:NM_032980:exon7:c.A508C:p.R170R;DTNA:NM_032975:exon15:c.A1393C:p.R465R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000599844:exon6:c.A430C:p.S144R;	0.997239840790337	0.98
18	32438361	A	G	18	34858397	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon15:c.A1393G:p.R465G;DTNA:NM_032978:exon15:c.A1555G:p.R519G;DTNA:NM_001390:exon15:c.A1564G:p.R522G;DTNA:NM_001198938:exon14:c.A1384G:p.R462G;DTNA:NM_001198945:exon9:c.A814G:p.R272G;DTNA:NM_001198943:exon6:c.A634G:p.R212G;DTNA:NM_001198942:exon9:c.A691G:p.R231G;DTNA:NM_001198944:exon7:c.A520G:p.R174G;DTNA:NM_001391:exon15:c.A1564G:p.R522G;DTNA:NM_032981:exon6:c.A430G:p.R144G;DTNA:NM_001198940:exon14:c.A1384G:p.R462G;DTNA:NM_001198939:exon14:c.A1384G:p.R462G;DTNA:NM_001198941:exon13:c.A1384G:p.R462G;DTNA:NM_032980:exon7:c.A508G:p.R170G;DTNA:NM_032975:exon15:c.A1393G:p.R465G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.A1555G:p.R519G;ENSG00000134769:ENST00000399097:exon15:c.A508G:p.R170G;ENSG00000134769:ENST00000598334:exon14:c.A1384G:p.R462G;ENSG00000134769:ENST00000595022:exon14:c.A1384G:p.R462G;ENSG00000134769:ENST00000444659:exon15:c.A1564G:p.R522G;ENSG00000134769:ENST00000269191:exon15:c.A1564G:p.R522G;ENSG00000134769:ENST00000283365:exon15:c.A1393G:p.R465G;ENSG00000134769:ENST00000399113:exon15:c.A1564G:p.R522G;ENSG00000134769:ENST00000599844:exon6:c.A430G:p.S144G;ENSG00000134769:ENST00000556414:exon7:c.A520G:p.R174G;ENSG00000134769:ENST00000269190:exon18:c.A1567G:p.R523G;ENSG00000134769:ENST00000399121:exon14:c.A1384G:p.R462G;ENSG00000134769:ENST00000269192:exon9:c.A691G:p.R231G;ENSG00000134769:ENST00000597599:exon13:c.A1384G:p.R462G;ENSG00000134769:ENST00000596745:exon9:c.A814G:p.R272G;ENSG00000134769:ENST00000597674:exon6:c.A430G:p.R144G;ENSG00000134769:ENST00000591182:exon7:c.A508G:p.R170G;ENSG00000134769:ENST00000598774:exon14:c.A1393G:p.R465G;ENSG00000134769:ENST00000598142:exon14:c.A1393G:p.R465G;ENSG00000134769:ENST00000601125:exon6:c.A430G:p.R144G;	0.999835207993754	0.998
18	32438361	A	T	18	34858397	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon15:c.A1393T:p.R465X;DTNA:NM_032978:exon15:c.A1555T:p.R519X;DTNA:NM_001390:exon15:c.A1564T:p.R522X;DTNA:NM_001198938:exon14:c.A1384T:p.R462X;DTNA:NM_001198945:exon9:c.A814T:p.R272X;DTNA:NM_001198943:exon6:c.A634T:p.R212X;DTNA:NM_001198942:exon9:c.A691T:p.R231X;DTNA:NM_001198944:exon7:c.A520T:p.R174X;DTNA:NM_001391:exon15:c.A1564T:p.R522X;DTNA:NM_032981:exon6:c.A430T:p.R144X;DTNA:NM_001198940:exon14:c.A1384T:p.R462X;DTNA:NM_001198939:exon14:c.A1384T:p.R462X;DTNA:NM_001198941:exon13:c.A1384T:p.R462X;DTNA:NM_032980:exon7:c.A508T:p.R170X;DTNA:NM_032975:exon15:c.A1393T:p.R465X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon15:c.A1555T:p.R519X;ENSG00000134769:ENST00000399097:exon15:c.A508T:p.R170X;ENSG00000134769:ENST00000598334:exon14:c.A1384T:p.R462X;ENSG00000134769:ENST00000595022:exon14:c.A1384T:p.R462X;ENSG00000134769:ENST00000444659:exon15:c.A1564T:p.R522X;ENSG00000134769:ENST00000269191:exon15:c.A1564T:p.R522X;ENSG00000134769:ENST00000283365:exon15:c.A1393T:p.R465X;ENSG00000134769:ENST00000399113:exon15:c.A1564T:p.R522X;ENSG00000134769:ENST00000556414:exon7:c.A520T:p.R174X;ENSG00000134769:ENST00000269190:exon18:c.A1567T:p.R523X;ENSG00000134769:ENST00000399121:exon14:c.A1384T:p.R462X;ENSG00000134769:ENST00000269192:exon9:c.A691T:p.R231X;ENSG00000134769:ENST00000597599:exon13:c.A1384T:p.R462X;ENSG00000134769:ENST00000596745:exon9:c.A814T:p.R272X;ENSG00000134769:ENST00000597674:exon6:c.A430T:p.R144X;ENSG00000134769:ENST00000591182:exon7:c.A508T:p.R170X;ENSG00000134769:ENST00000598774:exon14:c.A1393T:p.R465X;ENSG00000134769:ENST00000598142:exon14:c.A1393T:p.R465X;ENSG00000134769:ENST00000601125:exon6:c.A430T:p.R144X;	0.999930989238313	0.986
18	32438362	G	A	18	34858398	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon15:c.G1394A:p.R465K;DTNA:NM_032978:exon15:c.G1556A:p.R519K;DTNA:NM_001390:exon15:c.G1565A:p.R522K;DTNA:NM_001198938:exon14:c.G1385A:p.R462K;DTNA:NM_001198945:exon9:c.G815A:p.R272K;DTNA:NM_001198943:exon6:c.G635A:p.R212K;DTNA:NM_001198942:exon9:c.G692A:p.R231K;DTNA:NM_001198944:exon7:c.G521A:p.R174K;DTNA:NM_001391:exon15:c.G1565A:p.R522K;DTNA:NM_032981:exon6:c.G431A:p.R144K;DTNA:NM_001198940:exon14:c.G1385A:p.R462K;DTNA:NM_001198939:exon14:c.G1385A:p.R462K;DTNA:NM_001198941:exon13:c.G1385A:p.R462K;DTNA:NM_032980:exon7:c.G509A:p.R170K;DTNA:NM_032975:exon15:c.G1394A:p.R465K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.G1556A:p.R519K;ENSG00000134769:ENST00000399097:exon15:c.G509A:p.R170K;ENSG00000134769:ENST00000598334:exon14:c.G1385A:p.R462K;ENSG00000134769:ENST00000595022:exon14:c.G1385A:p.R462K;ENSG00000134769:ENST00000444659:exon15:c.G1565A:p.R522K;ENSG00000134769:ENST00000269191:exon15:c.G1565A:p.R522K;ENSG00000134769:ENST00000283365:exon15:c.G1394A:p.R465K;ENSG00000134769:ENST00000399113:exon15:c.G1565A:p.R522K;ENSG00000134769:ENST00000599844:exon6:c.G431A:p.S144N;ENSG00000134769:ENST00000556414:exon7:c.G521A:p.R174K;ENSG00000134769:ENST00000269190:exon18:c.G1568A:p.R523K;ENSG00000134769:ENST00000399121:exon14:c.G1385A:p.R462K;ENSG00000134769:ENST00000269192:exon9:c.G692A:p.R231K;ENSG00000134769:ENST00000597599:exon13:c.G1385A:p.R462K;ENSG00000134769:ENST00000596745:exon9:c.G815A:p.R272K;ENSG00000134769:ENST00000597674:exon6:c.G431A:p.R144K;ENSG00000134769:ENST00000591182:exon7:c.G509A:p.R170K;ENSG00000134769:ENST00000598774:exon14:c.G1394A:p.R465K;ENSG00000134769:ENST00000598142:exon14:c.G1394A:p.R465K;ENSG00000134769:ENST00000601125:exon6:c.G431A:p.R144K;	0.999978100449502	1.0
18	32438362	G	C	18	34858398	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon15:c.G1394C:p.R465T;DTNA:NM_032978:exon15:c.G1556C:p.R519T;DTNA:NM_001390:exon15:c.G1565C:p.R522T;DTNA:NM_001198938:exon14:c.G1385C:p.R462T;DTNA:NM_001198945:exon9:c.G815C:p.R272T;DTNA:NM_001198943:exon6:c.G635C:p.R212T;DTNA:NM_001198942:exon9:c.G692C:p.R231T;DTNA:NM_001198944:exon7:c.G521C:p.R174T;DTNA:NM_001391:exon15:c.G1565C:p.R522T;DTNA:NM_032981:exon6:c.G431C:p.R144T;DTNA:NM_001198940:exon14:c.G1385C:p.R462T;DTNA:NM_001198939:exon14:c.G1385C:p.R462T;DTNA:NM_001198941:exon13:c.G1385C:p.R462T;DTNA:NM_032980:exon7:c.G509C:p.R170T;DTNA:NM_032975:exon15:c.G1394C:p.R465T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.G1556C:p.R519T;ENSG00000134769:ENST00000399097:exon15:c.G509C:p.R170T;ENSG00000134769:ENST00000598334:exon14:c.G1385C:p.R462T;ENSG00000134769:ENST00000595022:exon14:c.G1385C:p.R462T;ENSG00000134769:ENST00000444659:exon15:c.G1565C:p.R522T;ENSG00000134769:ENST00000269191:exon15:c.G1565C:p.R522T;ENSG00000134769:ENST00000283365:exon15:c.G1394C:p.R465T;ENSG00000134769:ENST00000399113:exon15:c.G1565C:p.R522T;ENSG00000134769:ENST00000599844:exon6:c.G431C:p.S144T;ENSG00000134769:ENST00000556414:exon7:c.G521C:p.R174T;ENSG00000134769:ENST00000269190:exon18:c.G1568C:p.R523T;ENSG00000134769:ENST00000399121:exon14:c.G1385C:p.R462T;ENSG00000134769:ENST00000269192:exon9:c.G692C:p.R231T;ENSG00000134769:ENST00000597599:exon13:c.G1385C:p.R462T;ENSG00000134769:ENST00000596745:exon9:c.G815C:p.R272T;ENSG00000134769:ENST00000597674:exon6:c.G431C:p.R144T;ENSG00000134769:ENST00000591182:exon7:c.G509C:p.R170T;ENSG00000134769:ENST00000598774:exon14:c.G1394C:p.R465T;ENSG00000134769:ENST00000598142:exon14:c.G1394C:p.R465T;ENSG00000134769:ENST00000601125:exon6:c.G431C:p.R144T;	0.99999745064001	0.998
18	32438362	G	T	18	34858398	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon15:c.G1394T:p.R465I;DTNA:NM_032978:exon15:c.G1556T:p.R519I;DTNA:NM_001390:exon15:c.G1565T:p.R522I;DTNA:NM_001198938:exon14:c.G1385T:p.R462I;DTNA:NM_001198945:exon9:c.G815T:p.R272I;DTNA:NM_001198943:exon6:c.G635T:p.R212I;DTNA:NM_001198942:exon9:c.G692T:p.R231I;DTNA:NM_001198944:exon7:c.G521T:p.R174I;DTNA:NM_001391:exon15:c.G1565T:p.R522I;DTNA:NM_032981:exon6:c.G431T:p.R144I;DTNA:NM_001198940:exon14:c.G1385T:p.R462I;DTNA:NM_001198939:exon14:c.G1385T:p.R462I;DTNA:NM_001198941:exon13:c.G1385T:p.R462I;DTNA:NM_032980:exon7:c.G509T:p.R170I;DTNA:NM_032975:exon15:c.G1394T:p.R465I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon15:c.G1556T:p.R519I;ENSG00000134769:ENST00000399097:exon15:c.G509T:p.R170I;ENSG00000134769:ENST00000598334:exon14:c.G1385T:p.R462I;ENSG00000134769:ENST00000595022:exon14:c.G1385T:p.R462I;ENSG00000134769:ENST00000444659:exon15:c.G1565T:p.R522I;ENSG00000134769:ENST00000269191:exon15:c.G1565T:p.R522I;ENSG00000134769:ENST00000283365:exon15:c.G1394T:p.R465I;ENSG00000134769:ENST00000399113:exon15:c.G1565T:p.R522I;ENSG00000134769:ENST00000599844:exon6:c.G431T:p.S144I;ENSG00000134769:ENST00000556414:exon7:c.G521T:p.R174I;ENSG00000134769:ENST00000269190:exon18:c.G1568T:p.R523I;ENSG00000134769:ENST00000399121:exon14:c.G1385T:p.R462I;ENSG00000134769:ENST00000269192:exon9:c.G692T:p.R231I;ENSG00000134769:ENST00000597599:exon13:c.G1385T:p.R462I;ENSG00000134769:ENST00000596745:exon9:c.G815T:p.R272I;ENSG00000134769:ENST00000597674:exon6:c.G431T:p.R144I;ENSG00000134769:ENST00000591182:exon7:c.G509T:p.R170I;ENSG00000134769:ENST00000598774:exon14:c.G1394T:p.R465I;ENSG00000134769:ENST00000598142:exon14:c.G1394T:p.R465I;ENSG00000134769:ENST00000601125:exon6:c.G431T:p.R144I;	0.999987528490463	1.0
18	32438363	G	A	18	34858399	y	y	splicing	DTNA(NM_001198945:exon9:c.815+1G>A;NM_032975:exon15:c.1394+1G>A;NM_032979:exon15:c.1394+1G>A;NM_001198940:exon14:c.1385+1G>A;NM_001198939:exon14:c.1385+1G>A;NM_001198938:exon14:c.1385+1G>A;NM_001198941:exon13:c.1385+1G>A;NM_032978:exon15:c.1556+1G>A;NM_001391:exon15:c.1565+1G>A;NM_001390:exon15:c.1565+1G>A;NM_001198943:exon6:c.635+1G>A;NM_001198944:exon7:c.521+1G>A;NM_001198942:exon9:c.692+1G>A;NM_032981:exon6:c.431+1G>A;NM_032980:exon7:c.509+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1394+1G>A;ENST00000596745:exon9:c.815+1G>A;ENST00000598334:exon14:c.1385+1G>A;ENST00000399121:exon14:c.1385+1G>A;ENST00000399097:exon15:c.509+1G>A;ENST00000269190:exon18:c.1568+1G>A;ENST00000595022:exon14:c.1385+1G>A;ENST00000598142:exon14:c.1394+1G>A;ENST00000598774:exon14:c.1394+1G>A;ENST00000348997:exon15:c.1556+1G>A;ENST00000597599:exon13:c.1385+1G>A;ENST00000269191:exon15:c.1565+1G>A;ENST00000444659:exon15:c.1565+1G>A;ENST00000399113:exon15:c.1565+1G>A;ENST00000601125:exon6:c.431+1G>A;ENST00000269192:exon9:c.692+1G>A;ENST00000591182:exon7:c.509+1G>A;ENST00000556414:exon7:c.521+1G>A;ENST00000597674:exon6:c.431+1G>A;ENST00000599844:exon6:c.431+1G>A)	.	.	0.999985532734767	0.936
18	32438363	G	C	18	34858399	y	y	splicing	DTNA(NM_001198945:exon9:c.815+1G>C;NM_032975:exon15:c.1394+1G>C;NM_032979:exon15:c.1394+1G>C;NM_001198940:exon14:c.1385+1G>C;NM_001198939:exon14:c.1385+1G>C;NM_001198938:exon14:c.1385+1G>C;NM_001198941:exon13:c.1385+1G>C;NM_032978:exon15:c.1556+1G>C;NM_001391:exon15:c.1565+1G>C;NM_001390:exon15:c.1565+1G>C;NM_001198943:exon6:c.635+1G>C;NM_001198944:exon7:c.521+1G>C;NM_001198942:exon9:c.692+1G>C;NM_032981:exon6:c.431+1G>C;NM_032980:exon7:c.509+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1394+1G>C;ENST00000596745:exon9:c.815+1G>C;ENST00000598334:exon14:c.1385+1G>C;ENST00000399121:exon14:c.1385+1G>C;ENST00000399097:exon15:c.509+1G>C;ENST00000269190:exon18:c.1568+1G>C;ENST00000595022:exon14:c.1385+1G>C;ENST00000598142:exon14:c.1394+1G>C;ENST00000598774:exon14:c.1394+1G>C;ENST00000348997:exon15:c.1556+1G>C;ENST00000597599:exon13:c.1385+1G>C;ENST00000269191:exon15:c.1565+1G>C;ENST00000444659:exon15:c.1565+1G>C;ENST00000399113:exon15:c.1565+1G>C;ENST00000601125:exon6:c.431+1G>C;ENST00000269192:exon9:c.692+1G>C;ENST00000591182:exon7:c.509+1G>C;ENST00000556414:exon7:c.521+1G>C;ENST00000597674:exon6:c.431+1G>C;ENST00000599844:exon6:c.431+1G>C)	.	.	0.999985532734767	0.936
18	32438363	G	T	18	34858399	y	y	splicing	DTNA(NM_001198945:exon9:c.815+1G>T;NM_032975:exon15:c.1394+1G>T;NM_032979:exon15:c.1394+1G>T;NM_001198940:exon14:c.1385+1G>T;NM_001198939:exon14:c.1385+1G>T;NM_001198938:exon14:c.1385+1G>T;NM_001198941:exon13:c.1385+1G>T;NM_032978:exon15:c.1556+1G>T;NM_001391:exon15:c.1565+1G>T;NM_001390:exon15:c.1565+1G>T;NM_001198943:exon6:c.635+1G>T;NM_001198944:exon7:c.521+1G>T;NM_001198942:exon9:c.692+1G>T;NM_032981:exon6:c.431+1G>T;NM_032980:exon7:c.509+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1394+1G>T;ENST00000596745:exon9:c.815+1G>T;ENST00000598334:exon14:c.1385+1G>T;ENST00000399121:exon14:c.1385+1G>T;ENST00000399097:exon15:c.509+1G>T;ENST00000269190:exon18:c.1568+1G>T;ENST00000595022:exon14:c.1385+1G>T;ENST00000598142:exon14:c.1394+1G>T;ENST00000598774:exon14:c.1394+1G>T;ENST00000348997:exon15:c.1556+1G>T;ENST00000597599:exon13:c.1385+1G>T;ENST00000269191:exon15:c.1565+1G>T;ENST00000444659:exon15:c.1565+1G>T;ENST00000399113:exon15:c.1565+1G>T;ENST00000601125:exon6:c.431+1G>T;ENST00000269192:exon9:c.692+1G>T;ENST00000591182:exon7:c.509+1G>T;ENST00000556414:exon7:c.521+1G>T;ENST00000597674:exon6:c.431+1G>T;ENST00000599844:exon6:c.431+1G>T)	.	.	0.999985532734767	0.936
18	32438364	T	A	18	34858400	y	y	splicing	DTNA(NM_001198945:exon9:c.815+2T>A;NM_032975:exon15:c.1394+2T>A;NM_032979:exon15:c.1394+2T>A;NM_001198940:exon14:c.1385+2T>A;NM_001198939:exon14:c.1385+2T>A;NM_001198938:exon14:c.1385+2T>A;NM_001198941:exon13:c.1385+2T>A;NM_032978:exon15:c.1556+2T>A;NM_001391:exon15:c.1565+2T>A;NM_001390:exon15:c.1565+2T>A;NM_001198943:exon6:c.635+2T>A;NM_001198944:exon7:c.521+2T>A;NM_001198942:exon9:c.692+2T>A;NM_032981:exon6:c.431+2T>A;NM_032980:exon7:c.509+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1394+2T>A;ENST00000596745:exon9:c.815+2T>A;ENST00000598334:exon14:c.1385+2T>A;ENST00000399121:exon14:c.1385+2T>A;ENST00000399097:exon15:c.509+2T>A;ENST00000269190:exon18:c.1568+2T>A;ENST00000595022:exon14:c.1385+2T>A;ENST00000598142:exon14:c.1394+2T>A;ENST00000598774:exon14:c.1394+2T>A;ENST00000348997:exon15:c.1556+2T>A;ENST00000597599:exon13:c.1385+2T>A;ENST00000269191:exon15:c.1565+2T>A;ENST00000444659:exon15:c.1565+2T>A;ENST00000399113:exon15:c.1565+2T>A;ENST00000601125:exon6:c.431+2T>A;ENST00000269192:exon9:c.692+2T>A;ENST00000591182:exon7:c.509+2T>A;ENST00000556414:exon7:c.521+2T>A;ENST00000597674:exon6:c.431+2T>A;ENST00000599844:exon6:c.431+2T>A)	.	.	0.999988247793601	0.928
18	32438364	T	C	18	34858400	y	y	splicing	DTNA(NM_001198945:exon9:c.815+2T>C;NM_032975:exon15:c.1394+2T>C;NM_032979:exon15:c.1394+2T>C;NM_001198940:exon14:c.1385+2T>C;NM_001198939:exon14:c.1385+2T>C;NM_001198938:exon14:c.1385+2T>C;NM_001198941:exon13:c.1385+2T>C;NM_032978:exon15:c.1556+2T>C;NM_001391:exon15:c.1565+2T>C;NM_001390:exon15:c.1565+2T>C;NM_001198943:exon6:c.635+2T>C;NM_001198944:exon7:c.521+2T>C;NM_001198942:exon9:c.692+2T>C;NM_032981:exon6:c.431+2T>C;NM_032980:exon7:c.509+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1394+2T>C;ENST00000596745:exon9:c.815+2T>C;ENST00000598334:exon14:c.1385+2T>C;ENST00000399121:exon14:c.1385+2T>C;ENST00000399097:exon15:c.509+2T>C;ENST00000269190:exon18:c.1568+2T>C;ENST00000595022:exon14:c.1385+2T>C;ENST00000598142:exon14:c.1394+2T>C;ENST00000598774:exon14:c.1394+2T>C;ENST00000348997:exon15:c.1556+2T>C;ENST00000597599:exon13:c.1385+2T>C;ENST00000269191:exon15:c.1565+2T>C;ENST00000444659:exon15:c.1565+2T>C;ENST00000399113:exon15:c.1565+2T>C;ENST00000601125:exon6:c.431+2T>C;ENST00000269192:exon9:c.692+2T>C;ENST00000591182:exon7:c.509+2T>C;ENST00000556414:exon7:c.521+2T>C;ENST00000597674:exon6:c.431+2T>C;ENST00000599844:exon6:c.431+2T>C)	.	.	0.99340600729494	0.658
18	32438364	T	G	18	34858400	y	y	splicing	DTNA(NM_001198945:exon9:c.815+2T>G;NM_032975:exon15:c.1394+2T>G;NM_032979:exon15:c.1394+2T>G;NM_001198940:exon14:c.1385+2T>G;NM_001198939:exon14:c.1385+2T>G;NM_001198938:exon14:c.1385+2T>G;NM_001198941:exon13:c.1385+2T>G;NM_032978:exon15:c.1556+2T>G;NM_001391:exon15:c.1565+2T>G;NM_001390:exon15:c.1565+2T>G;NM_001198943:exon6:c.635+2T>G;NM_001198944:exon7:c.521+2T>G;NM_001198942:exon9:c.692+2T>G;NM_032981:exon6:c.431+2T>G;NM_032980:exon7:c.509+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon15:c.1394+2T>G;ENST00000596745:exon9:c.815+2T>G;ENST00000598334:exon14:c.1385+2T>G;ENST00000399121:exon14:c.1385+2T>G;ENST00000399097:exon15:c.509+2T>G;ENST00000269190:exon18:c.1568+2T>G;ENST00000595022:exon14:c.1385+2T>G;ENST00000598142:exon14:c.1394+2T>G;ENST00000598774:exon14:c.1394+2T>G;ENST00000348997:exon15:c.1556+2T>G;ENST00000597599:exon13:c.1385+2T>G;ENST00000269191:exon15:c.1565+2T>G;ENST00000444659:exon15:c.1565+2T>G;ENST00000399113:exon15:c.1565+2T>G;ENST00000601125:exon6:c.431+2T>G;ENST00000269192:exon9:c.692+2T>G;ENST00000591182:exon7:c.509+2T>G;ENST00000556414:exon7:c.521+2T>G;ENST00000597674:exon6:c.431+2T>G;ENST00000599844:exon6:c.431+2T>G)	.	.	0.999988247793601	0.928
18	32438365	A	C	18	34858401	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998238579130039	0.936
18	32438365	A	G	18	34858401	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.996567320688311	0.904
18	32438365	A	T	18	34858401	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999273487313545	0.978
18	32438366	G	A	18	34858402	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.28210671566458E-5	0.032
18	32438366	G	C	18	34858402	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.53011712322417E-4	0.036
18	32438366	G	T	18	34858402	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.03220383256596E-4	0.038
18	32438367	G	A	18	34858403	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.890572395390418	0.682
18	32438367	G	C	18	34858403	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998832312720003	0.872
18	32438367	G	T	18	34858403	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999504460265517	0.89
18	32438368	A	C	18	34858404	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.46168077317574E-4	0.022
18	32438368	A	G	18	34858404	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.80488895497716E-5	0.004
18	32438368	A	T	18	34858404	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.27171542737932E-5	0.012
18	32438369	G	A	18	34858405	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.26954946448503E-5	0.0
18	32438369	G	C	18	34858405	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.49265290979784E-5	0.0
18	32438369	G	T	18	34858405	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.61436470647564E-5	0.0
18	32438370	A	C	18	34858406	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.77963512005572E-4	0.002
18	32438370	A	G	18	34858406	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.00961776398356E-4	0.002
18	32438370	A	T	18	34858406	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.07353622726832E-4	0.004
18	32443918	C	A	18	34863954	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0471183669049171	0.12
18	32443918	C	G	18	34863954	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0123343738232967	0.138
18	32443918	C	T	18	34863954	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00104630468625399	0.05
18	32443919	T	A	18	34863955	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.159751429667208	0.438
18	32443919	T	C	18	34863955	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.013689779629976	0.204
18	32443919	T	G	18	34863955	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0128402701048761	0.354
18	32443920	T	A	18	34863956	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00828416043956654	0.192
18	32443920	T	C	18	34863956	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.42295562077532E-4	0.01
18	32443920	T	G	18	34863956	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.010906895957367	0.164
18	32443921	C	A	18	34863957	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.101413196720299	0.256
18	32443921	C	G	18	34863957	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0397491652132441	0.2
18	32443921	C	T	18	34863957	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0165460661224845	0.214
18	32443922	T	A	18	34863958	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0118816989945808	0.116
18	32443922	T	C	18	34863958	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.26621356851682E-4	0.01
18	32443922	T	G	18	34863958	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00118486094632157	0.124
18	32443923	T	A	18	34863959	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00473112690819871	0.054
18	32443923	T	C	18	34863959	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.72019443829137E-4	0.002
18	32443923	T	G	18	34863959	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0051669136928339	0.108
18	32443924	T	A	18	34863960	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.72627398370703	0.46
18	32443924	T	C	18	34863960	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0036140228934023	0.15
18	32443924	T	G	18	34863960	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.380924875866312	0.396
18	32443925	C	A	18	34863961	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.71990858725282	0.462
18	32443925	C	G	18	34863961	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.6488762167937	0.458
18	32443925	C	T	18	34863961	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0140227751857863	0.164
18	32443926	T	A	18	34863962	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.92580545013125E-4	0.002
18	32443926	T	C	18	34863962	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.31891641408914E-5	0.006
18	32443926	T	G	18	34863962	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.9321258365802E-5	0.002
18	32443927	T	A	18	34863963	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0192052344924601	0.286
18	32443927	T	C	18	34863963	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.56821073594317E-5	0.0
18	32443927	T	G	18	34863963	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.936495937164989	0.724
18	32443928	A	C	18	34863964	y	y	splicing	DTNA(NM_001198945:exon10:c.816-2A>C;NM_032975:exon16:c.1395-2A>C;NM_032979:exon16:c.1395-2A>C;NM_001198940:exon15:c.1386-2A>C;NM_001198939:exon15:c.1386-2A>C;NM_001198938:exon15:c.1386-2A>C;NM_001198941:exon14:c.1386-2A>C;NM_032978:exon16:c.1557-2A>C;NM_001391:exon16:c.1566-2A>C;NM_001390:exon16:c.1566-2A>C;NM_001198943:exon7:c.636-2A>C;NM_001198944:exon8:c.522-2A>C;NM_001198942:exon10:c.693-2A>C;NM_032981:exon7:c.432-2A>C;NM_032980:exon8:c.510-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1395-2A>C;ENST00000596745:exon10:c.816-2A>C;ENST00000598334:exon15:c.1386-2A>C;ENST00000399121:exon15:c.1386-2A>C;ENST00000399097:exon16:c.510-2A>C;ENST00000269190:exon19:c.1569-2A>C;ENST00000595022:exon15:c.1386-2A>C;ENST00000598142:exon15:c.1395-2A>C;ENST00000598774:exon15:c.1395-2A>C;ENST00000348997:exon16:c.1557-2A>C;ENST00000597599:exon14:c.1386-2A>C;ENST00000269191:exon16:c.1566-2A>C;ENST00000444659:exon16:c.1566-2A>C;ENST00000399113:exon16:c.1566-2A>C;ENST00000601125:exon7:c.432-2A>C;ENST00000269192:exon10:c.693-2A>C;ENST00000591182:exon8:c.510-2A>C;ENST00000556414:exon8:c.522-2A>C;ENST00000597674:exon7:c.432-2A>C)	.	.	0.999988247793601	0.932
18	32443928	A	G	18	34863964	y	y	splicing	DTNA(NM_001198945:exon10:c.816-2A>G;NM_032975:exon16:c.1395-2A>G;NM_032979:exon16:c.1395-2A>G;NM_001198940:exon15:c.1386-2A>G;NM_001198939:exon15:c.1386-2A>G;NM_001198938:exon15:c.1386-2A>G;NM_001198941:exon14:c.1386-2A>G;NM_032978:exon16:c.1557-2A>G;NM_001391:exon16:c.1566-2A>G;NM_001390:exon16:c.1566-2A>G;NM_001198943:exon7:c.636-2A>G;NM_001198944:exon8:c.522-2A>G;NM_001198942:exon10:c.693-2A>G;NM_032981:exon7:c.432-2A>G;NM_032980:exon8:c.510-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1395-2A>G;ENST00000596745:exon10:c.816-2A>G;ENST00000598334:exon15:c.1386-2A>G;ENST00000399121:exon15:c.1386-2A>G;ENST00000399097:exon16:c.510-2A>G;ENST00000269190:exon19:c.1569-2A>G;ENST00000595022:exon15:c.1386-2A>G;ENST00000598142:exon15:c.1395-2A>G;ENST00000598774:exon15:c.1395-2A>G;ENST00000348997:exon16:c.1557-2A>G;ENST00000597599:exon14:c.1386-2A>G;ENST00000269191:exon16:c.1566-2A>G;ENST00000444659:exon16:c.1566-2A>G;ENST00000399113:exon16:c.1566-2A>G;ENST00000601125:exon7:c.432-2A>G;ENST00000269192:exon10:c.693-2A>G;ENST00000591182:exon8:c.510-2A>G;ENST00000556414:exon8:c.522-2A>G;ENST00000597674:exon7:c.432-2A>G)	.	.	0.999988247793601	0.932
18	32443928	A	T	18	34863964	y	y	splicing	DTNA(NM_001198945:exon10:c.816-2A>T;NM_032975:exon16:c.1395-2A>T;NM_032979:exon16:c.1395-2A>T;NM_001198940:exon15:c.1386-2A>T;NM_001198939:exon15:c.1386-2A>T;NM_001198938:exon15:c.1386-2A>T;NM_001198941:exon14:c.1386-2A>T;NM_032978:exon16:c.1557-2A>T;NM_001391:exon16:c.1566-2A>T;NM_001390:exon16:c.1566-2A>T;NM_001198943:exon7:c.636-2A>T;NM_001198944:exon8:c.522-2A>T;NM_001198942:exon10:c.693-2A>T;NM_032981:exon7:c.432-2A>T;NM_032980:exon8:c.510-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1395-2A>T;ENST00000596745:exon10:c.816-2A>T;ENST00000598334:exon15:c.1386-2A>T;ENST00000399121:exon15:c.1386-2A>T;ENST00000399097:exon16:c.510-2A>T;ENST00000269190:exon19:c.1569-2A>T;ENST00000595022:exon15:c.1386-2A>T;ENST00000598142:exon15:c.1395-2A>T;ENST00000598774:exon15:c.1395-2A>T;ENST00000348997:exon16:c.1557-2A>T;ENST00000597599:exon14:c.1386-2A>T;ENST00000269191:exon16:c.1566-2A>T;ENST00000444659:exon16:c.1566-2A>T;ENST00000399113:exon16:c.1566-2A>T;ENST00000601125:exon7:c.432-2A>T;ENST00000269192:exon10:c.693-2A>T;ENST00000591182:exon8:c.510-2A>T;ENST00000556414:exon8:c.522-2A>T;ENST00000597674:exon7:c.432-2A>T)	.	.	0.999988247793601	0.932
18	32443929	G	A	18	34863965	y	y	splicing	DTNA(NM_001198945:exon10:c.816-1G>A;NM_032975:exon16:c.1395-1G>A;NM_032979:exon16:c.1395-1G>A;NM_001198940:exon15:c.1386-1G>A;NM_001198939:exon15:c.1386-1G>A;NM_001198938:exon15:c.1386-1G>A;NM_001198941:exon14:c.1386-1G>A;NM_032978:exon16:c.1557-1G>A;NM_001391:exon16:c.1566-1G>A;NM_001390:exon16:c.1566-1G>A;NM_001198943:exon7:c.636-1G>A;NM_001198944:exon8:c.522-1G>A;NM_001198942:exon10:c.693-1G>A;NM_032981:exon7:c.432-1G>A;NM_032980:exon8:c.510-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1395-1G>A;ENST00000596745:exon10:c.816-1G>A;ENST00000598334:exon15:c.1386-1G>A;ENST00000399121:exon15:c.1386-1G>A;ENST00000399097:exon16:c.510-1G>A;ENST00000269190:exon19:c.1569-1G>A;ENST00000595022:exon15:c.1386-1G>A;ENST00000598142:exon15:c.1395-1G>A;ENST00000598774:exon15:c.1395-1G>A;ENST00000348997:exon16:c.1557-1G>A;ENST00000597599:exon14:c.1386-1G>A;ENST00000269191:exon16:c.1566-1G>A;ENST00000444659:exon16:c.1566-1G>A;ENST00000399113:exon16:c.1566-1G>A;ENST00000601125:exon7:c.432-1G>A;ENST00000269192:exon10:c.693-1G>A;ENST00000591182:exon8:c.510-1G>A;ENST00000556414:exon8:c.522-1G>A;ENST00000597674:exon7:c.432-1G>A)	.	.	0.999990361384395	0.938
18	32443929	G	C	18	34863965	y	y	splicing	DTNA(NM_001198945:exon10:c.816-1G>C;NM_032975:exon16:c.1395-1G>C;NM_032979:exon16:c.1395-1G>C;NM_001198940:exon15:c.1386-1G>C;NM_001198939:exon15:c.1386-1G>C;NM_001198938:exon15:c.1386-1G>C;NM_001198941:exon14:c.1386-1G>C;NM_032978:exon16:c.1557-1G>C;NM_001391:exon16:c.1566-1G>C;NM_001390:exon16:c.1566-1G>C;NM_001198943:exon7:c.636-1G>C;NM_001198944:exon8:c.522-1G>C;NM_001198942:exon10:c.693-1G>C;NM_032981:exon7:c.432-1G>C;NM_032980:exon8:c.510-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1395-1G>C;ENST00000596745:exon10:c.816-1G>C;ENST00000598334:exon15:c.1386-1G>C;ENST00000399121:exon15:c.1386-1G>C;ENST00000399097:exon16:c.510-1G>C;ENST00000269190:exon19:c.1569-1G>C;ENST00000595022:exon15:c.1386-1G>C;ENST00000598142:exon15:c.1395-1G>C;ENST00000598774:exon15:c.1395-1G>C;ENST00000348997:exon16:c.1557-1G>C;ENST00000597599:exon14:c.1386-1G>C;ENST00000269191:exon16:c.1566-1G>C;ENST00000444659:exon16:c.1566-1G>C;ENST00000399113:exon16:c.1566-1G>C;ENST00000601125:exon7:c.432-1G>C;ENST00000269192:exon10:c.693-1G>C;ENST00000591182:exon8:c.510-1G>C;ENST00000556414:exon8:c.522-1G>C;ENST00000597674:exon7:c.432-1G>C)	.	.	0.999990361384395	0.938
18	32443929	G	T	18	34863965	y	y	splicing	DTNA(NM_001198945:exon10:c.816-1G>T;NM_032975:exon16:c.1395-1G>T;NM_032979:exon16:c.1395-1G>T;NM_001198940:exon15:c.1386-1G>T;NM_001198939:exon15:c.1386-1G>T;NM_001198938:exon15:c.1386-1G>T;NM_001198941:exon14:c.1386-1G>T;NM_032978:exon16:c.1557-1G>T;NM_001391:exon16:c.1566-1G>T;NM_001390:exon16:c.1566-1G>T;NM_001198943:exon7:c.636-1G>T;NM_001198944:exon8:c.522-1G>T;NM_001198942:exon10:c.693-1G>T;NM_032981:exon7:c.432-1G>T;NM_032980:exon8:c.510-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1395-1G>T;ENST00000596745:exon10:c.816-1G>T;ENST00000598334:exon15:c.1386-1G>T;ENST00000399121:exon15:c.1386-1G>T;ENST00000399097:exon16:c.510-1G>T;ENST00000269190:exon19:c.1569-1G>T;ENST00000595022:exon15:c.1386-1G>T;ENST00000598142:exon15:c.1395-1G>T;ENST00000598774:exon15:c.1395-1G>T;ENST00000348997:exon16:c.1557-1G>T;ENST00000597599:exon14:c.1386-1G>T;ENST00000269191:exon16:c.1566-1G>T;ENST00000444659:exon16:c.1566-1G>T;ENST00000399113:exon16:c.1566-1G>T;ENST00000601125:exon7:c.432-1G>T;ENST00000269192:exon10:c.693-1G>T;ENST00000591182:exon8:c.510-1G>T;ENST00000556414:exon8:c.522-1G>T;ENST00000597674:exon7:c.432-1G>T)	.	.	0.999990361384395	0.938
18	32443930	A	C	18	34863966	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.A1395C:p.R465S;DTNA:NM_032978:exon16:c.A1557C:p.R519S;DTNA:NM_001390:exon16:c.A1566C:p.R522S;DTNA:NM_001198938:exon15:c.A1386C:p.R462S;DTNA:NM_001198945:exon10:c.A816C:p.R272S;DTNA:NM_001198943:exon7:c.A636C:p.R212S;DTNA:NM_001198942:exon10:c.A693C:p.R231S;DTNA:NM_001198944:exon8:c.A522C:p.R174S;DTNA:NM_001391:exon16:c.A1566C:p.R522S;DTNA:NM_032981:exon7:c.A432C:p.R144S;DTNA:NM_001198940:exon15:c.A1386C:p.R462S;DTNA:NM_001198939:exon15:c.A1386C:p.R462S;DTNA:NM_001198941:exon14:c.A1386C:p.R462S;DTNA:NM_032980:exon8:c.A510C:p.R170S;DTNA:NM_032975:exon16:c.A1395C:p.R465S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.A1557C:p.R519S;ENSG00000134769:ENST00000399097:exon16:c.A510C:p.R170S;ENSG00000134769:ENST00000598334:exon15:c.A1386C:p.R462S;ENSG00000134769:ENST00000595022:exon15:c.A1386C:p.R462S;ENSG00000134769:ENST00000444659:exon16:c.A1566C:p.R522S;ENSG00000134769:ENST00000269191:exon16:c.A1566C:p.R522S;ENSG00000134769:ENST00000283365:exon16:c.A1395C:p.R465S;ENSG00000134769:ENST00000399113:exon16:c.A1566C:p.R522S;ENSG00000134769:ENST00000556414:exon8:c.A522C:p.R174S;ENSG00000134769:ENST00000269190:exon19:c.A1569C:p.R523S;ENSG00000134769:ENST00000399121:exon15:c.A1386C:p.R462S;ENSG00000134769:ENST00000269192:exon10:c.A693C:p.R231S;ENSG00000134769:ENST00000597599:exon14:c.A1386C:p.R462S;ENSG00000134769:ENST00000596745:exon10:c.A816C:p.R272S;ENSG00000134769:ENST00000597674:exon7:c.A432C:p.R144S;ENSG00000134769:ENST00000591182:exon8:c.A510C:p.R170S;ENSG00000134769:ENST00000598774:exon15:c.A1395C:p.R465S;ENSG00000134769:ENST00000598142:exon15:c.A1395C:p.R465S;ENSG00000134769:ENST00000601125:exon7:c.A432C:p.R144S;	0.0539955739641189	0.302
18	32443930	A	G	18	34863966	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon16:c.A1395G:p.R465R;DTNA:NM_032978:exon16:c.A1557G:p.R519R;DTNA:NM_001390:exon16:c.A1566G:p.R522R;DTNA:NM_001198938:exon15:c.A1386G:p.R462R;DTNA:NM_001198945:exon10:c.A816G:p.R272R;DTNA:NM_001198943:exon7:c.A636G:p.R212R;DTNA:NM_001198942:exon10:c.A693G:p.R231R;DTNA:NM_001198944:exon8:c.A522G:p.R174R;DTNA:NM_001391:exon16:c.A1566G:p.R522R;DTNA:NM_032981:exon7:c.A432G:p.R144R;DTNA:NM_001198940:exon15:c.A1386G:p.R462R;DTNA:NM_001198939:exon15:c.A1386G:p.R462R;DTNA:NM_001198941:exon14:c.A1386G:p.R462R;DTNA:NM_032980:exon8:c.A510G:p.R170R;DTNA:NM_032975:exon16:c.A1395G:p.R465R;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.A1557G:p.R519R;ENSG00000134769:ENST00000399097:exon16:c.A510G:p.R170R;ENSG00000134769:ENST00000598334:exon15:c.A1386G:p.R462R;ENSG00000134769:ENST00000595022:exon15:c.A1386G:p.R462R;ENSG00000134769:ENST00000444659:exon16:c.A1566G:p.R522R;ENSG00000134769:ENST00000269191:exon16:c.A1566G:p.R522R;ENSG00000134769:ENST00000283365:exon16:c.A1395G:p.R465R;ENSG00000134769:ENST00000399113:exon16:c.A1566G:p.R522R;ENSG00000134769:ENST00000556414:exon8:c.A522G:p.R174R;ENSG00000134769:ENST00000269190:exon19:c.A1569G:p.R523R;ENSG00000134769:ENST00000399121:exon15:c.A1386G:p.R462R;ENSG00000134769:ENST00000269192:exon10:c.A693G:p.R231R;ENSG00000134769:ENST00000597599:exon14:c.A1386G:p.R462R;ENSG00000134769:ENST00000596745:exon10:c.A816G:p.R272R;ENSG00000134769:ENST00000597674:exon7:c.A432G:p.R144R;ENSG00000134769:ENST00000591182:exon8:c.A510G:p.R170R;ENSG00000134769:ENST00000598774:exon15:c.A1395G:p.R465R;ENSG00000134769:ENST00000598142:exon15:c.A1395G:p.R465R;ENSG00000134769:ENST00000601125:exon7:c.A432G:p.R144R;	2.18944558672362E-4	0.076
18	32443930	A	T	18	34863966	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.A1395T:p.R465S;DTNA:NM_032978:exon16:c.A1557T:p.R519S;DTNA:NM_001390:exon16:c.A1566T:p.R522S;DTNA:NM_001198938:exon15:c.A1386T:p.R462S;DTNA:NM_001198945:exon10:c.A816T:p.R272S;DTNA:NM_001198943:exon7:c.A636T:p.R212S;DTNA:NM_001198942:exon10:c.A693T:p.R231S;DTNA:NM_001198944:exon8:c.A522T:p.R174S;DTNA:NM_001391:exon16:c.A1566T:p.R522S;DTNA:NM_032981:exon7:c.A432T:p.R144S;DTNA:NM_001198940:exon15:c.A1386T:p.R462S;DTNA:NM_001198939:exon15:c.A1386T:p.R462S;DTNA:NM_001198941:exon14:c.A1386T:p.R462S;DTNA:NM_032980:exon8:c.A510T:p.R170S;DTNA:NM_032975:exon16:c.A1395T:p.R465S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.A1557T:p.R519S;ENSG00000134769:ENST00000399097:exon16:c.A510T:p.R170S;ENSG00000134769:ENST00000598334:exon15:c.A1386T:p.R462S;ENSG00000134769:ENST00000595022:exon15:c.A1386T:p.R462S;ENSG00000134769:ENST00000444659:exon16:c.A1566T:p.R522S;ENSG00000134769:ENST00000269191:exon16:c.A1566T:p.R522S;ENSG00000134769:ENST00000283365:exon16:c.A1395T:p.R465S;ENSG00000134769:ENST00000399113:exon16:c.A1566T:p.R522S;ENSG00000134769:ENST00000556414:exon8:c.A522T:p.R174S;ENSG00000134769:ENST00000269190:exon19:c.A1569T:p.R523S;ENSG00000134769:ENST00000399121:exon15:c.A1386T:p.R462S;ENSG00000134769:ENST00000269192:exon10:c.A693T:p.R231S;ENSG00000134769:ENST00000597599:exon14:c.A1386T:p.R462S;ENSG00000134769:ENST00000596745:exon10:c.A816T:p.R272S;ENSG00000134769:ENST00000597674:exon7:c.A432T:p.R144S;ENSG00000134769:ENST00000591182:exon8:c.A510T:p.R170S;ENSG00000134769:ENST00000598774:exon15:c.A1395T:p.R465S;ENSG00000134769:ENST00000598142:exon15:c.A1395T:p.R465S;ENSG00000134769:ENST00000601125:exon7:c.A432T:p.R144S;	0.0280333216394788	0.206
18	32443931	C	A	18	34863967	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.C1396A:p.Q466K;DTNA:NM_032978:exon16:c.C1558A:p.Q520K;DTNA:NM_001390:exon16:c.C1567A:p.Q523K;DTNA:NM_001198938:exon15:c.C1387A:p.Q463K;DTNA:NM_001198945:exon10:c.C817A:p.Q273K;DTNA:NM_001198943:exon7:c.C637A:p.Q213K;DTNA:NM_001198942:exon10:c.C694A:p.Q232K;DTNA:NM_001198944:exon8:c.C523A:p.Q175K;DTNA:NM_001391:exon16:c.C1567A:p.Q523K;DTNA:NM_032981:exon7:c.C433A:p.Q145K;DTNA:NM_001198940:exon15:c.C1387A:p.Q463K;DTNA:NM_001198939:exon15:c.C1387A:p.Q463K;DTNA:NM_001198941:exon14:c.C1387A:p.Q463K;DTNA:NM_032980:exon8:c.C511A:p.Q171K;DTNA:NM_032975:exon16:c.C1396A:p.Q466K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.C1558A:p.Q520K;ENSG00000134769:ENST00000399097:exon16:c.C511A:p.Q171K;ENSG00000134769:ENST00000598334:exon15:c.C1387A:p.Q463K;ENSG00000134769:ENST00000595022:exon15:c.C1387A:p.Q463K;ENSG00000134769:ENST00000444659:exon16:c.C1567A:p.Q523K;ENSG00000134769:ENST00000269191:exon16:c.C1567A:p.Q523K;ENSG00000134769:ENST00000283365:exon16:c.C1396A:p.Q466K;ENSG00000134769:ENST00000399113:exon16:c.C1567A:p.Q523K;ENSG00000134769:ENST00000556414:exon8:c.C523A:p.Q175K;ENSG00000134769:ENST00000269190:exon19:c.C1570A:p.Q524K;ENSG00000134769:ENST00000399121:exon15:c.C1387A:p.Q463K;ENSG00000134769:ENST00000269192:exon10:c.C694A:p.Q232K;ENSG00000134769:ENST00000597599:exon14:c.C1387A:p.Q463K;ENSG00000134769:ENST00000596745:exon10:c.C817A:p.Q273K;ENSG00000134769:ENST00000597674:exon7:c.C433A:p.Q145K;ENSG00000134769:ENST00000591182:exon8:c.C511A:p.Q171K;ENSG00000134769:ENST00000598774:exon15:c.C1396A:p.Q466K;ENSG00000134769:ENST00000598142:exon15:c.C1396A:p.Q466K;ENSG00000134769:ENST00000601125:exon7:c.C433A:p.Q145K;	0.994825773803621	0.922
18	32443931	C	G	18	34863967	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.C1396G:p.Q466E;DTNA:NM_032978:exon16:c.C1558G:p.Q520E;DTNA:NM_001390:exon16:c.C1567G:p.Q523E;DTNA:NM_001198938:exon15:c.C1387G:p.Q463E;DTNA:NM_001198945:exon10:c.C817G:p.Q273E;DTNA:NM_001198943:exon7:c.C637G:p.Q213E;DTNA:NM_001198942:exon10:c.C694G:p.Q232E;DTNA:NM_001198944:exon8:c.C523G:p.Q175E;DTNA:NM_001391:exon16:c.C1567G:p.Q523E;DTNA:NM_032981:exon7:c.C433G:p.Q145E;DTNA:NM_001198940:exon15:c.C1387G:p.Q463E;DTNA:NM_001198939:exon15:c.C1387G:p.Q463E;DTNA:NM_001198941:exon14:c.C1387G:p.Q463E;DTNA:NM_032980:exon8:c.C511G:p.Q171E;DTNA:NM_032975:exon16:c.C1396G:p.Q466E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.C1558G:p.Q520E;ENSG00000134769:ENST00000399097:exon16:c.C511G:p.Q171E;ENSG00000134769:ENST00000598334:exon15:c.C1387G:p.Q463E;ENSG00000134769:ENST00000595022:exon15:c.C1387G:p.Q463E;ENSG00000134769:ENST00000444659:exon16:c.C1567G:p.Q523E;ENSG00000134769:ENST00000269191:exon16:c.C1567G:p.Q523E;ENSG00000134769:ENST00000283365:exon16:c.C1396G:p.Q466E;ENSG00000134769:ENST00000399113:exon16:c.C1567G:p.Q523E;ENSG00000134769:ENST00000556414:exon8:c.C523G:p.Q175E;ENSG00000134769:ENST00000269190:exon19:c.C1570G:p.Q524E;ENSG00000134769:ENST00000399121:exon15:c.C1387G:p.Q463E;ENSG00000134769:ENST00000269192:exon10:c.C694G:p.Q232E;ENSG00000134769:ENST00000597599:exon14:c.C1387G:p.Q463E;ENSG00000134769:ENST00000596745:exon10:c.C817G:p.Q273E;ENSG00000134769:ENST00000597674:exon7:c.C433G:p.Q145E;ENSG00000134769:ENST00000591182:exon8:c.C511G:p.Q171E;ENSG00000134769:ENST00000598774:exon15:c.C1396G:p.Q466E;ENSG00000134769:ENST00000598142:exon15:c.C1396G:p.Q466E;ENSG00000134769:ENST00000601125:exon7:c.C433G:p.Q145E;	0.988833278630549	0.858
18	32443931	C	T	18	34863967	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon16:c.C1396T:p.Q466X;DTNA:NM_032978:exon16:c.C1558T:p.Q520X;DTNA:NM_001390:exon16:c.C1567T:p.Q523X;DTNA:NM_001198938:exon15:c.C1387T:p.Q463X;DTNA:NM_001198945:exon10:c.C817T:p.Q273X;DTNA:NM_001198943:exon7:c.C637T:p.Q213X;DTNA:NM_001198942:exon10:c.C694T:p.Q232X;DTNA:NM_001198944:exon8:c.C523T:p.Q175X;DTNA:NM_001391:exon16:c.C1567T:p.Q523X;DTNA:NM_032981:exon7:c.C433T:p.Q145X;DTNA:NM_001198940:exon15:c.C1387T:p.Q463X;DTNA:NM_001198939:exon15:c.C1387T:p.Q463X;DTNA:NM_001198941:exon14:c.C1387T:p.Q463X;DTNA:NM_032980:exon8:c.C511T:p.Q171X;DTNA:NM_032975:exon16:c.C1396T:p.Q466X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon16:c.C1558T:p.Q520X;ENSG00000134769:ENST00000399097:exon16:c.C511T:p.Q171X;ENSG00000134769:ENST00000598334:exon15:c.C1387T:p.Q463X;ENSG00000134769:ENST00000595022:exon15:c.C1387T:p.Q463X;ENSG00000134769:ENST00000444659:exon16:c.C1567T:p.Q523X;ENSG00000134769:ENST00000269191:exon16:c.C1567T:p.Q523X;ENSG00000134769:ENST00000283365:exon16:c.C1396T:p.Q466X;ENSG00000134769:ENST00000399113:exon16:c.C1567T:p.Q523X;ENSG00000134769:ENST00000556414:exon8:c.C523T:p.Q175X;ENSG00000134769:ENST00000269190:exon19:c.C1570T:p.Q524X;ENSG00000134769:ENST00000399121:exon15:c.C1387T:p.Q463X;ENSG00000134769:ENST00000269192:exon10:c.C694T:p.Q232X;ENSG00000134769:ENST00000597599:exon14:c.C1387T:p.Q463X;ENSG00000134769:ENST00000596745:exon10:c.C817T:p.Q273X;ENSG00000134769:ENST00000597674:exon7:c.C433T:p.Q145X;ENSG00000134769:ENST00000591182:exon8:c.C511T:p.Q171X;ENSG00000134769:ENST00000598774:exon15:c.C1396T:p.Q466X;ENSG00000134769:ENST00000598142:exon15:c.C1396T:p.Q466X;ENSG00000134769:ENST00000601125:exon7:c.C433T:p.Q145X;	0.986475172586073	0.898
18	32444024	A	C	18	34864060	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.A1489C:p.K497Q;DTNA:NM_032978:exon16:c.A1651C:p.K551Q;DTNA:NM_001390:exon16:c.A1660C:p.K554Q;DTNA:NM_001198938:exon15:c.A1480C:p.K494Q;DTNA:NM_001198945:exon10:c.A910C:p.K304Q;DTNA:NM_001198943:exon7:c.A730C:p.K244Q;DTNA:NM_001198942:exon10:c.A787C:p.K263Q;DTNA:NM_001198944:exon8:c.A616C:p.K206Q;DTNA:NM_001391:exon16:c.A1660C:p.K554Q;DTNA:NM_032981:exon7:c.A526C:p.K176Q;DTNA:NM_001198940:exon15:c.A1480C:p.K494Q;DTNA:NM_001198939:exon15:c.A1480C:p.K494Q;DTNA:NM_001198941:exon14:c.A1480C:p.K494Q;DTNA:NM_032980:exon8:c.A604C:p.K202Q;DTNA:NM_032975:exon16:c.A1489C:p.K497Q;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.A1651C:p.K551Q;ENSG00000134769:ENST00000399097:exon16:c.A604C:p.K202Q;ENSG00000134769:ENST00000598334:exon15:c.A1480C:p.K494Q;ENSG00000134769:ENST00000595022:exon15:c.A1480C:p.K494Q;ENSG00000134769:ENST00000444659:exon16:c.A1660C:p.K554Q;ENSG00000134769:ENST00000269191:exon16:c.A1660C:p.K554Q;ENSG00000134769:ENST00000283365:exon16:c.A1489C:p.K497Q;ENSG00000134769:ENST00000399113:exon16:c.A1660C:p.K554Q;ENSG00000134769:ENST00000556414:exon8:c.A616C:p.K206Q;ENSG00000134769:ENST00000269190:exon19:c.A1663C:p.K555Q;ENSG00000134769:ENST00000399121:exon15:c.A1480C:p.K494Q;ENSG00000134769:ENST00000269192:exon10:c.A787C:p.K263Q;ENSG00000134769:ENST00000597599:exon14:c.A1480C:p.K494Q;ENSG00000134769:ENST00000596745:exon10:c.A910C:p.K304Q;ENSG00000134769:ENST00000597674:exon7:c.A526C:p.K176Q;ENSG00000134769:ENST00000591182:exon8:c.A604C:p.K202Q;ENSG00000134769:ENST00000598774:exon15:c.A1489C:p.K497Q;ENSG00000134769:ENST00000598142:exon15:c.A1489C:p.K497Q;ENSG00000134769:ENST00000601125:exon7:c.A526C:p.K176Q;	0.84007843456749	0.732
18	32444024	A	G	18	34864060	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.A1489G:p.K497E;DTNA:NM_032978:exon16:c.A1651G:p.K551E;DTNA:NM_001390:exon16:c.A1660G:p.K554E;DTNA:NM_001198938:exon15:c.A1480G:p.K494E;DTNA:NM_001198945:exon10:c.A910G:p.K304E;DTNA:NM_001198943:exon7:c.A730G:p.K244E;DTNA:NM_001198942:exon10:c.A787G:p.K263E;DTNA:NM_001198944:exon8:c.A616G:p.K206E;DTNA:NM_001391:exon16:c.A1660G:p.K554E;DTNA:NM_032981:exon7:c.A526G:p.K176E;DTNA:NM_001198940:exon15:c.A1480G:p.K494E;DTNA:NM_001198939:exon15:c.A1480G:p.K494E;DTNA:NM_001198941:exon14:c.A1480G:p.K494E;DTNA:NM_032980:exon8:c.A604G:p.K202E;DTNA:NM_032975:exon16:c.A1489G:p.K497E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.A1651G:p.K551E;ENSG00000134769:ENST00000399097:exon16:c.A604G:p.K202E;ENSG00000134769:ENST00000598334:exon15:c.A1480G:p.K494E;ENSG00000134769:ENST00000595022:exon15:c.A1480G:p.K494E;ENSG00000134769:ENST00000444659:exon16:c.A1660G:p.K554E;ENSG00000134769:ENST00000269191:exon16:c.A1660G:p.K554E;ENSG00000134769:ENST00000283365:exon16:c.A1489G:p.K497E;ENSG00000134769:ENST00000399113:exon16:c.A1660G:p.K554E;ENSG00000134769:ENST00000556414:exon8:c.A616G:p.K206E;ENSG00000134769:ENST00000269190:exon19:c.A1663G:p.K555E;ENSG00000134769:ENST00000399121:exon15:c.A1480G:p.K494E;ENSG00000134769:ENST00000269192:exon10:c.A787G:p.K263E;ENSG00000134769:ENST00000597599:exon14:c.A1480G:p.K494E;ENSG00000134769:ENST00000596745:exon10:c.A910G:p.K304E;ENSG00000134769:ENST00000597674:exon7:c.A526G:p.K176E;ENSG00000134769:ENST00000591182:exon8:c.A604G:p.K202E;ENSG00000134769:ENST00000598774:exon15:c.A1489G:p.K497E;ENSG00000134769:ENST00000598142:exon15:c.A1489G:p.K497E;ENSG00000134769:ENST00000601125:exon7:c.A526G:p.K176E;	0.509414958896	0.542
18	32444024	A	T	18	34864060	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon16:c.A1489T:p.K497X;DTNA:NM_032978:exon16:c.A1651T:p.K551X;DTNA:NM_001390:exon16:c.A1660T:p.K554X;DTNA:NM_001198938:exon15:c.A1480T:p.K494X;DTNA:NM_001198945:exon10:c.A910T:p.K304X;DTNA:NM_001198943:exon7:c.A730T:p.K244X;DTNA:NM_001198942:exon10:c.A787T:p.K263X;DTNA:NM_001198944:exon8:c.A616T:p.K206X;DTNA:NM_001391:exon16:c.A1660T:p.K554X;DTNA:NM_032981:exon7:c.A526T:p.K176X;DTNA:NM_001198940:exon15:c.A1480T:p.K494X;DTNA:NM_001198939:exon15:c.A1480T:p.K494X;DTNA:NM_001198941:exon14:c.A1480T:p.K494X;DTNA:NM_032980:exon8:c.A604T:p.K202X;DTNA:NM_032975:exon16:c.A1489T:p.K497X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon16:c.A1651T:p.K551X;ENSG00000134769:ENST00000399097:exon16:c.A604T:p.K202X;ENSG00000134769:ENST00000598334:exon15:c.A1480T:p.K494X;ENSG00000134769:ENST00000595022:exon15:c.A1480T:p.K494X;ENSG00000134769:ENST00000444659:exon16:c.A1660T:p.K554X;ENSG00000134769:ENST00000269191:exon16:c.A1660T:p.K554X;ENSG00000134769:ENST00000283365:exon16:c.A1489T:p.K497X;ENSG00000134769:ENST00000399113:exon16:c.A1660T:p.K554X;ENSG00000134769:ENST00000556414:exon8:c.A616T:p.K206X;ENSG00000134769:ENST00000269190:exon19:c.A1663T:p.K555X;ENSG00000134769:ENST00000399121:exon15:c.A1480T:p.K494X;ENSG00000134769:ENST00000269192:exon10:c.A787T:p.K263X;ENSG00000134769:ENST00000597599:exon14:c.A1480T:p.K494X;ENSG00000134769:ENST00000596745:exon10:c.A910T:p.K304X;ENSG00000134769:ENST00000597674:exon7:c.A526T:p.K176X;ENSG00000134769:ENST00000591182:exon8:c.A604T:p.K202X;ENSG00000134769:ENST00000598774:exon15:c.A1489T:p.K497X;ENSG00000134769:ENST00000598142:exon15:c.A1489T:p.K497X;ENSG00000134769:ENST00000601125:exon7:c.A526T:p.K176X;	0.978565748829525	0.648
18	32444025	A	C	18	34864061	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.A1490C:p.K497T;DTNA:NM_032978:exon16:c.A1652C:p.K551T;DTNA:NM_001390:exon16:c.A1661C:p.K554T;DTNA:NM_001198938:exon15:c.A1481C:p.K494T;DTNA:NM_001198945:exon10:c.A911C:p.K304T;DTNA:NM_001198943:exon7:c.A731C:p.K244T;DTNA:NM_001198942:exon10:c.A788C:p.K263T;DTNA:NM_001198944:exon8:c.A617C:p.K206T;DTNA:NM_001391:exon16:c.A1661C:p.K554T;DTNA:NM_032981:exon7:c.A527C:p.K176T;DTNA:NM_001198940:exon15:c.A1481C:p.K494T;DTNA:NM_001198939:exon15:c.A1481C:p.K494T;DTNA:NM_001198941:exon14:c.A1481C:p.K494T;DTNA:NM_032980:exon8:c.A605C:p.K202T;DTNA:NM_032975:exon16:c.A1490C:p.K497T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.A1652C:p.K551T;ENSG00000134769:ENST00000399097:exon16:c.A605C:p.K202T;ENSG00000134769:ENST00000598334:exon15:c.A1481C:p.K494T;ENSG00000134769:ENST00000595022:exon15:c.A1481C:p.K494T;ENSG00000134769:ENST00000444659:exon16:c.A1661C:p.K554T;ENSG00000134769:ENST00000269191:exon16:c.A1661C:p.K554T;ENSG00000134769:ENST00000283365:exon16:c.A1490C:p.K497T;ENSG00000134769:ENST00000399113:exon16:c.A1661C:p.K554T;ENSG00000134769:ENST00000556414:exon8:c.A617C:p.K206T;ENSG00000134769:ENST00000269190:exon19:c.A1664C:p.K555T;ENSG00000134769:ENST00000399121:exon15:c.A1481C:p.K494T;ENSG00000134769:ENST00000269192:exon10:c.A788C:p.K263T;ENSG00000134769:ENST00000597599:exon14:c.A1481C:p.K494T;ENSG00000134769:ENST00000596745:exon10:c.A911C:p.K304T;ENSG00000134769:ENST00000597674:exon7:c.A527C:p.K176T;ENSG00000134769:ENST00000591182:exon8:c.A605C:p.K202T;ENSG00000134769:ENST00000598774:exon15:c.A1490C:p.K497T;ENSG00000134769:ENST00000598142:exon15:c.A1490C:p.K497T;ENSG00000134769:ENST00000601125:exon7:c.A527C:p.K176T;	0.990878469206079	0.866
18	32444025	A	G	18	34864061	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.A1490G:p.K497R;DTNA:NM_032978:exon16:c.A1652G:p.K551R;DTNA:NM_001390:exon16:c.A1661G:p.K554R;DTNA:NM_001198938:exon15:c.A1481G:p.K494R;DTNA:NM_001198945:exon10:c.A911G:p.K304R;DTNA:NM_001198943:exon7:c.A731G:p.K244R;DTNA:NM_001198942:exon10:c.A788G:p.K263R;DTNA:NM_001198944:exon8:c.A617G:p.K206R;DTNA:NM_001391:exon16:c.A1661G:p.K554R;DTNA:NM_032981:exon7:c.A527G:p.K176R;DTNA:NM_001198940:exon15:c.A1481G:p.K494R;DTNA:NM_001198939:exon15:c.A1481G:p.K494R;DTNA:NM_001198941:exon14:c.A1481G:p.K494R;DTNA:NM_032980:exon8:c.A605G:p.K202R;DTNA:NM_032975:exon16:c.A1490G:p.K497R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.A1652G:p.K551R;ENSG00000134769:ENST00000399097:exon16:c.A605G:p.K202R;ENSG00000134769:ENST00000598334:exon15:c.A1481G:p.K494R;ENSG00000134769:ENST00000595022:exon15:c.A1481G:p.K494R;ENSG00000134769:ENST00000444659:exon16:c.A1661G:p.K554R;ENSG00000134769:ENST00000269191:exon16:c.A1661G:p.K554R;ENSG00000134769:ENST00000283365:exon16:c.A1490G:p.K497R;ENSG00000134769:ENST00000399113:exon16:c.A1661G:p.K554R;ENSG00000134769:ENST00000556414:exon8:c.A617G:p.K206R;ENSG00000134769:ENST00000269190:exon19:c.A1664G:p.K555R;ENSG00000134769:ENST00000399121:exon15:c.A1481G:p.K494R;ENSG00000134769:ENST00000269192:exon10:c.A788G:p.K263R;ENSG00000134769:ENST00000597599:exon14:c.A1481G:p.K494R;ENSG00000134769:ENST00000596745:exon10:c.A911G:p.K304R;ENSG00000134769:ENST00000597674:exon7:c.A527G:p.K176R;ENSG00000134769:ENST00000591182:exon8:c.A605G:p.K202R;ENSG00000134769:ENST00000598774:exon15:c.A1490G:p.K497R;ENSG00000134769:ENST00000598142:exon15:c.A1490G:p.K497R;ENSG00000134769:ENST00000601125:exon7:c.A527G:p.K176R;	0.995759146354004	0.92
18	32444025	A	T	18	34864061	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.A1490T:p.K497M;DTNA:NM_032978:exon16:c.A1652T:p.K551M;DTNA:NM_001390:exon16:c.A1661T:p.K554M;DTNA:NM_001198938:exon15:c.A1481T:p.K494M;DTNA:NM_001198945:exon10:c.A911T:p.K304M;DTNA:NM_001198943:exon7:c.A731T:p.K244M;DTNA:NM_001198942:exon10:c.A788T:p.K263M;DTNA:NM_001198944:exon8:c.A617T:p.K206M;DTNA:NM_001391:exon16:c.A1661T:p.K554M;DTNA:NM_032981:exon7:c.A527T:p.K176M;DTNA:NM_001198940:exon15:c.A1481T:p.K494M;DTNA:NM_001198939:exon15:c.A1481T:p.K494M;DTNA:NM_001198941:exon14:c.A1481T:p.K494M;DTNA:NM_032980:exon8:c.A605T:p.K202M;DTNA:NM_032975:exon16:c.A1490T:p.K497M;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.A1652T:p.K551M;ENSG00000134769:ENST00000399097:exon16:c.A605T:p.K202M;ENSG00000134769:ENST00000598334:exon15:c.A1481T:p.K494M;ENSG00000134769:ENST00000595022:exon15:c.A1481T:p.K494M;ENSG00000134769:ENST00000444659:exon16:c.A1661T:p.K554M;ENSG00000134769:ENST00000269191:exon16:c.A1661T:p.K554M;ENSG00000134769:ENST00000283365:exon16:c.A1490T:p.K497M;ENSG00000134769:ENST00000399113:exon16:c.A1661T:p.K554M;ENSG00000134769:ENST00000556414:exon8:c.A617T:p.K206M;ENSG00000134769:ENST00000269190:exon19:c.A1664T:p.K555M;ENSG00000134769:ENST00000399121:exon15:c.A1481T:p.K494M;ENSG00000134769:ENST00000269192:exon10:c.A788T:p.K263M;ENSG00000134769:ENST00000597599:exon14:c.A1481T:p.K494M;ENSG00000134769:ENST00000596745:exon10:c.A911T:p.K304M;ENSG00000134769:ENST00000597674:exon7:c.A527T:p.K176M;ENSG00000134769:ENST00000591182:exon8:c.A605T:p.K202M;ENSG00000134769:ENST00000598774:exon15:c.A1490T:p.K497M;ENSG00000134769:ENST00000598142:exon15:c.A1490T:p.K497M;ENSG00000134769:ENST00000601125:exon7:c.A527T:p.K176M;	0.988450073638324	0.654
18	32444026	G	A	18	34864062	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_032979:exon16:c.G1491A:p.K497K;DTNA:NM_032978:exon16:c.G1653A:p.K551K;DTNA:NM_001390:exon16:c.G1662A:p.K554K;DTNA:NM_001198938:exon15:c.G1482A:p.K494K;DTNA:NM_001198945:exon10:c.G912A:p.K304K;DTNA:NM_001198943:exon7:c.G732A:p.K244K;DTNA:NM_001198942:exon10:c.G789A:p.K263K;DTNA:NM_001198944:exon8:c.G618A:p.K206K;DTNA:NM_001391:exon16:c.G1662A:p.K554K;DTNA:NM_032981:exon7:c.G528A:p.K176K;DTNA:NM_001198940:exon15:c.G1482A:p.K494K;DTNA:NM_001198939:exon15:c.G1482A:p.K494K;DTNA:NM_001198941:exon14:c.G1482A:p.K494K;DTNA:NM_032980:exon8:c.G606A:p.K202K;DTNA:NM_032975:exon16:c.G1491A:p.K497K;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.G1653A:p.K551K;ENSG00000134769:ENST00000399097:exon16:c.G606A:p.K202K;ENSG00000134769:ENST00000598334:exon15:c.G1482A:p.K494K;ENSG00000134769:ENST00000595022:exon15:c.G1482A:p.K494K;ENSG00000134769:ENST00000444659:exon16:c.G1662A:p.K554K;ENSG00000134769:ENST00000269191:exon16:c.G1662A:p.K554K;ENSG00000134769:ENST00000283365:exon16:c.G1491A:p.K497K;ENSG00000134769:ENST00000399113:exon16:c.G1662A:p.K554K;ENSG00000134769:ENST00000556414:exon8:c.G618A:p.K206K;ENSG00000134769:ENST00000269190:exon19:c.G1665A:p.K555K;ENSG00000134769:ENST00000399121:exon15:c.G1482A:p.K494K;ENSG00000134769:ENST00000269192:exon10:c.G789A:p.K263K;ENSG00000134769:ENST00000597599:exon14:c.G1482A:p.K494K;ENSG00000134769:ENST00000596745:exon10:c.G912A:p.K304K;ENSG00000134769:ENST00000597674:exon7:c.G528A:p.K176K;ENSG00000134769:ENST00000591182:exon8:c.G606A:p.K202K;ENSG00000134769:ENST00000598774:exon15:c.G1491A:p.K497K;ENSG00000134769:ENST00000598142:exon15:c.G1491A:p.K497K;ENSG00000134769:ENST00000601125:exon7:c.G528A:p.K176K;	0.999735927105564	0.966
18	32444026	G	C	18	34864062	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.G1491C:p.K497N;DTNA:NM_032978:exon16:c.G1653C:p.K551N;DTNA:NM_001390:exon16:c.G1662C:p.K554N;DTNA:NM_001198938:exon15:c.G1482C:p.K494N;DTNA:NM_001198945:exon10:c.G912C:p.K304N;DTNA:NM_001198943:exon7:c.G732C:p.K244N;DTNA:NM_001198942:exon10:c.G789C:p.K263N;DTNA:NM_001198944:exon8:c.G618C:p.K206N;DTNA:NM_001391:exon16:c.G1662C:p.K554N;DTNA:NM_032981:exon7:c.G528C:p.K176N;DTNA:NM_001198940:exon15:c.G1482C:p.K494N;DTNA:NM_001198939:exon15:c.G1482C:p.K494N;DTNA:NM_001198941:exon14:c.G1482C:p.K494N;DTNA:NM_032980:exon8:c.G606C:p.K202N;DTNA:NM_032975:exon16:c.G1491C:p.K497N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.G1653C:p.K551N;ENSG00000134769:ENST00000399097:exon16:c.G606C:p.K202N;ENSG00000134769:ENST00000598334:exon15:c.G1482C:p.K494N;ENSG00000134769:ENST00000595022:exon15:c.G1482C:p.K494N;ENSG00000134769:ENST00000444659:exon16:c.G1662C:p.K554N;ENSG00000134769:ENST00000269191:exon16:c.G1662C:p.K554N;ENSG00000134769:ENST00000283365:exon16:c.G1491C:p.K497N;ENSG00000134769:ENST00000399113:exon16:c.G1662C:p.K554N;ENSG00000134769:ENST00000556414:exon8:c.G618C:p.K206N;ENSG00000134769:ENST00000269190:exon19:c.G1665C:p.K555N;ENSG00000134769:ENST00000399121:exon15:c.G1482C:p.K494N;ENSG00000134769:ENST00000269192:exon10:c.G789C:p.K263N;ENSG00000134769:ENST00000597599:exon14:c.G1482C:p.K494N;ENSG00000134769:ENST00000596745:exon10:c.G912C:p.K304N;ENSG00000134769:ENST00000597674:exon7:c.G528C:p.K176N;ENSG00000134769:ENST00000591182:exon8:c.G606C:p.K202N;ENSG00000134769:ENST00000598774:exon15:c.G1491C:p.K497N;ENSG00000134769:ENST00000598142:exon15:c.G1491C:p.K497N;ENSG00000134769:ENST00000601125:exon7:c.G528C:p.K176N;	0.999952238537358	0.918
18	32444026	G	T	18	34864062	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon16:c.G1491T:p.K497N;DTNA:NM_032978:exon16:c.G1653T:p.K551N;DTNA:NM_001390:exon16:c.G1662T:p.K554N;DTNA:NM_001198938:exon15:c.G1482T:p.K494N;DTNA:NM_001198945:exon10:c.G912T:p.K304N;DTNA:NM_001198943:exon7:c.G732T:p.K244N;DTNA:NM_001198942:exon10:c.G789T:p.K263N;DTNA:NM_001198944:exon8:c.G618T:p.K206N;DTNA:NM_001391:exon16:c.G1662T:p.K554N;DTNA:NM_032981:exon7:c.G528T:p.K176N;DTNA:NM_001198940:exon15:c.G1482T:p.K494N;DTNA:NM_001198939:exon15:c.G1482T:p.K494N;DTNA:NM_001198941:exon14:c.G1482T:p.K494N;DTNA:NM_032980:exon8:c.G606T:p.K202N;DTNA:NM_032975:exon16:c.G1491T:p.K497N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon16:c.G1653T:p.K551N;ENSG00000134769:ENST00000399097:exon16:c.G606T:p.K202N;ENSG00000134769:ENST00000598334:exon15:c.G1482T:p.K494N;ENSG00000134769:ENST00000595022:exon15:c.G1482T:p.K494N;ENSG00000134769:ENST00000444659:exon16:c.G1662T:p.K554N;ENSG00000134769:ENST00000269191:exon16:c.G1662T:p.K554N;ENSG00000134769:ENST00000283365:exon16:c.G1491T:p.K497N;ENSG00000134769:ENST00000399113:exon16:c.G1662T:p.K554N;ENSG00000134769:ENST00000556414:exon8:c.G618T:p.K206N;ENSG00000134769:ENST00000269190:exon19:c.G1665T:p.K555N;ENSG00000134769:ENST00000399121:exon15:c.G1482T:p.K494N;ENSG00000134769:ENST00000269192:exon10:c.G789T:p.K263N;ENSG00000134769:ENST00000597599:exon14:c.G1482T:p.K494N;ENSG00000134769:ENST00000596745:exon10:c.G912T:p.K304N;ENSG00000134769:ENST00000597674:exon7:c.G528T:p.K176N;ENSG00000134769:ENST00000591182:exon8:c.G606T:p.K202N;ENSG00000134769:ENST00000598774:exon15:c.G1491T:p.K497N;ENSG00000134769:ENST00000598142:exon15:c.G1491T:p.K497N;ENSG00000134769:ENST00000601125:exon7:c.G528T:p.K176N;	0.999774251777922	0.968
18	32444027	G	A	18	34864063	y	y	splicing	DTNA(NM_001198945:exon10:c.912+1G>A;NM_032975:exon16:c.1491+1G>A;NM_032979:exon16:c.1491+1G>A;NM_001198940:exon15:c.1482+1G>A;NM_001198939:exon15:c.1482+1G>A;NM_001198938:exon15:c.1482+1G>A;NM_001198941:exon14:c.1482+1G>A;NM_032978:exon16:c.1653+1G>A;NM_001391:exon16:c.1662+1G>A;NM_001390:exon16:c.1662+1G>A;NM_001198943:exon7:c.732+1G>A;NM_001198944:exon8:c.618+1G>A;NM_001198942:exon10:c.789+1G>A;NM_032981:exon7:c.528+1G>A;NM_032980:exon8:c.606+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1491+1G>A;ENST00000596745:exon10:c.912+1G>A;ENST00000598334:exon15:c.1482+1G>A;ENST00000399121:exon15:c.1482+1G>A;ENST00000399097:exon16:c.606+1G>A;ENST00000269190:exon19:c.1665+1G>A;ENST00000595022:exon15:c.1482+1G>A;ENST00000598142:exon15:c.1491+1G>A;ENST00000598774:exon15:c.1491+1G>A;ENST00000348997:exon16:c.1653+1G>A;ENST00000597599:exon14:c.1482+1G>A;ENST00000269191:exon16:c.1662+1G>A;ENST00000444659:exon16:c.1662+1G>A;ENST00000399113:exon16:c.1662+1G>A;ENST00000601125:exon7:c.528+1G>A;ENST00000269192:exon10:c.789+1G>A;ENST00000591182:exon8:c.606+1G>A;ENST00000556414:exon8:c.618+1G>A;ENST00000597674:exon7:c.528+1G>A;ENST00000599844:exon7:c.524+1G>A)	.	.	0.999990361384395	0.938
18	32444027	G	C	18	34864063	y	y	splicing	DTNA(NM_001198945:exon10:c.912+1G>C;NM_032975:exon16:c.1491+1G>C;NM_032979:exon16:c.1491+1G>C;NM_001198940:exon15:c.1482+1G>C;NM_001198939:exon15:c.1482+1G>C;NM_001198938:exon15:c.1482+1G>C;NM_001198941:exon14:c.1482+1G>C;NM_032978:exon16:c.1653+1G>C;NM_001391:exon16:c.1662+1G>C;NM_001390:exon16:c.1662+1G>C;NM_001198943:exon7:c.732+1G>C;NM_001198944:exon8:c.618+1G>C;NM_001198942:exon10:c.789+1G>C;NM_032981:exon7:c.528+1G>C;NM_032980:exon8:c.606+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1491+1G>C;ENST00000596745:exon10:c.912+1G>C;ENST00000598334:exon15:c.1482+1G>C;ENST00000399121:exon15:c.1482+1G>C;ENST00000399097:exon16:c.606+1G>C;ENST00000269190:exon19:c.1665+1G>C;ENST00000595022:exon15:c.1482+1G>C;ENST00000598142:exon15:c.1491+1G>C;ENST00000598774:exon15:c.1491+1G>C;ENST00000348997:exon16:c.1653+1G>C;ENST00000597599:exon14:c.1482+1G>C;ENST00000269191:exon16:c.1662+1G>C;ENST00000444659:exon16:c.1662+1G>C;ENST00000399113:exon16:c.1662+1G>C;ENST00000601125:exon7:c.528+1G>C;ENST00000269192:exon10:c.789+1G>C;ENST00000591182:exon8:c.606+1G>C;ENST00000556414:exon8:c.618+1G>C;ENST00000597674:exon7:c.528+1G>C;ENST00000599844:exon7:c.524+1G>C)	.	.	0.999990361384395	0.938
18	32444027	G	T	18	34864063	y	y	splicing	DTNA(NM_001198945:exon10:c.912+1G>T;NM_032975:exon16:c.1491+1G>T;NM_032979:exon16:c.1491+1G>T;NM_001198940:exon15:c.1482+1G>T;NM_001198939:exon15:c.1482+1G>T;NM_001198938:exon15:c.1482+1G>T;NM_001198941:exon14:c.1482+1G>T;NM_032978:exon16:c.1653+1G>T;NM_001391:exon16:c.1662+1G>T;NM_001390:exon16:c.1662+1G>T;NM_001198943:exon7:c.732+1G>T;NM_001198944:exon8:c.618+1G>T;NM_001198942:exon10:c.789+1G>T;NM_032981:exon7:c.528+1G>T;NM_032980:exon8:c.606+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1491+1G>T;ENST00000596745:exon10:c.912+1G>T;ENST00000598334:exon15:c.1482+1G>T;ENST00000399121:exon15:c.1482+1G>T;ENST00000399097:exon16:c.606+1G>T;ENST00000269190:exon19:c.1665+1G>T;ENST00000595022:exon15:c.1482+1G>T;ENST00000598142:exon15:c.1491+1G>T;ENST00000598774:exon15:c.1491+1G>T;ENST00000348997:exon16:c.1653+1G>T;ENST00000597599:exon14:c.1482+1G>T;ENST00000269191:exon16:c.1662+1G>T;ENST00000444659:exon16:c.1662+1G>T;ENST00000399113:exon16:c.1662+1G>T;ENST00000601125:exon7:c.528+1G>T;ENST00000269192:exon10:c.789+1G>T;ENST00000591182:exon8:c.606+1G>T;ENST00000556414:exon8:c.618+1G>T;ENST00000597674:exon7:c.528+1G>T;ENST00000599844:exon7:c.524+1G>T)	.	.	0.999990361384395	0.938
18	32444028	T	A	18	34864064	y	y	splicing	DTNA(NM_001198945:exon10:c.912+2T>A;NM_032975:exon16:c.1491+2T>A;NM_032979:exon16:c.1491+2T>A;NM_001198940:exon15:c.1482+2T>A;NM_001198939:exon15:c.1482+2T>A;NM_001198938:exon15:c.1482+2T>A;NM_001198941:exon14:c.1482+2T>A;NM_032978:exon16:c.1653+2T>A;NM_001391:exon16:c.1662+2T>A;NM_001390:exon16:c.1662+2T>A;NM_001198943:exon7:c.732+2T>A;NM_001198944:exon8:c.618+2T>A;NM_001198942:exon10:c.789+2T>A;NM_032981:exon7:c.528+2T>A;NM_032980:exon8:c.606+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1491+2T>A;ENST00000596745:exon10:c.912+2T>A;ENST00000598334:exon15:c.1482+2T>A;ENST00000399121:exon15:c.1482+2T>A;ENST00000399097:exon16:c.606+2T>A;ENST00000269190:exon19:c.1665+2T>A;ENST00000595022:exon15:c.1482+2T>A;ENST00000598142:exon15:c.1491+2T>A;ENST00000598774:exon15:c.1491+2T>A;ENST00000348997:exon16:c.1653+2T>A;ENST00000597599:exon14:c.1482+2T>A;ENST00000269191:exon16:c.1662+2T>A;ENST00000444659:exon16:c.1662+2T>A;ENST00000399113:exon16:c.1662+2T>A;ENST00000601125:exon7:c.528+2T>A;ENST00000269192:exon10:c.789+2T>A;ENST00000591182:exon8:c.606+2T>A;ENST00000556414:exon8:c.618+2T>A;ENST00000597674:exon7:c.528+2T>A;ENST00000599844:exon7:c.524+2T>A)	.	.	0.999988247793601	0.932
18	32444028	T	C	18	34864064	y	y	splicing	DTNA(NM_001198945:exon10:c.912+2T>C;NM_032975:exon16:c.1491+2T>C;NM_032979:exon16:c.1491+2T>C;NM_001198940:exon15:c.1482+2T>C;NM_001198939:exon15:c.1482+2T>C;NM_001198938:exon15:c.1482+2T>C;NM_001198941:exon14:c.1482+2T>C;NM_032978:exon16:c.1653+2T>C;NM_001391:exon16:c.1662+2T>C;NM_001390:exon16:c.1662+2T>C;NM_001198943:exon7:c.732+2T>C;NM_001198944:exon8:c.618+2T>C;NM_001198942:exon10:c.789+2T>C;NM_032981:exon7:c.528+2T>C;NM_032980:exon8:c.606+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1491+2T>C;ENST00000596745:exon10:c.912+2T>C;ENST00000598334:exon15:c.1482+2T>C;ENST00000399121:exon15:c.1482+2T>C;ENST00000399097:exon16:c.606+2T>C;ENST00000269190:exon19:c.1665+2T>C;ENST00000595022:exon15:c.1482+2T>C;ENST00000598142:exon15:c.1491+2T>C;ENST00000598774:exon15:c.1491+2T>C;ENST00000348997:exon16:c.1653+2T>C;ENST00000597599:exon14:c.1482+2T>C;ENST00000269191:exon16:c.1662+2T>C;ENST00000444659:exon16:c.1662+2T>C;ENST00000399113:exon16:c.1662+2T>C;ENST00000601125:exon7:c.528+2T>C;ENST00000269192:exon10:c.789+2T>C;ENST00000591182:exon8:c.606+2T>C;ENST00000556414:exon8:c.618+2T>C;ENST00000597674:exon7:c.528+2T>C;ENST00000599844:exon7:c.524+2T>C)	.	.	0.99340600729494	0.702
18	32444028	T	G	18	34864064	y	y	splicing	DTNA(NM_001198945:exon10:c.912+2T>G;NM_032975:exon16:c.1491+2T>G;NM_032979:exon16:c.1491+2T>G;NM_001198940:exon15:c.1482+2T>G;NM_001198939:exon15:c.1482+2T>G;NM_001198938:exon15:c.1482+2T>G;NM_001198941:exon14:c.1482+2T>G;NM_032978:exon16:c.1653+2T>G;NM_001391:exon16:c.1662+2T>G;NM_001390:exon16:c.1662+2T>G;NM_001198943:exon7:c.732+2T>G;NM_001198944:exon8:c.618+2T>G;NM_001198942:exon10:c.789+2T>G;NM_032981:exon7:c.528+2T>G;NM_032980:exon8:c.606+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon16:c.1491+2T>G;ENST00000596745:exon10:c.912+2T>G;ENST00000598334:exon15:c.1482+2T>G;ENST00000399121:exon15:c.1482+2T>G;ENST00000399097:exon16:c.606+2T>G;ENST00000269190:exon19:c.1665+2T>G;ENST00000595022:exon15:c.1482+2T>G;ENST00000598142:exon15:c.1491+2T>G;ENST00000598774:exon15:c.1491+2T>G;ENST00000348997:exon16:c.1653+2T>G;ENST00000597599:exon14:c.1482+2T>G;ENST00000269191:exon16:c.1662+2T>G;ENST00000444659:exon16:c.1662+2T>G;ENST00000399113:exon16:c.1662+2T>G;ENST00000601125:exon7:c.528+2T>G;ENST00000269192:exon10:c.789+2T>G;ENST00000591182:exon8:c.606+2T>G;ENST00000556414:exon8:c.618+2T>G;ENST00000597674:exon7:c.528+2T>G;ENST00000599844:exon7:c.524+2T>G)	.	.	0.999988247793601	0.932
18	32444029	A	C	18	34864065	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.805716273584061	0.676
18	32444029	A	G	18	34864065	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0921302154029008	0.328
18	32444029	A	T	18	34864065	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.846732249395609	0.704
18	32444030	A	C	18	34864066	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0499267489715635	0.312
18	32444030	A	G	18	34864066	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.102429686672056	0.368
18	32444030	A	T	18	34864066	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0614234278262866	0.27
18	32444031	G	A	18	34864067	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.885250060030885	0.596
18	32444031	G	C	18	34864067	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.910190107427632	0.618
18	32444031	G	T	18	34864067	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.972993629596511	0.602
18	32444032	A	C	18	34864068	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.98652582628458E-5	0.004
18	32444032	A	G	18	34864068	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.11698633046867E-5	0.0
18	32444032	A	T	18	34864068	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.34682583751131E-5	0.006
18	32444033	C	A	18	34864069	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.14785528412137E-4	0.01
18	32444033	C	G	18	34864069	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.14785528412137E-4	0.004
18	32444033	C	T	18	34864069	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.87192213223985E-4	0.01
18	32444034	C	A	18	34864070	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.11018359723679E-5	0.0
18	32444034	C	G	18	34864070	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.11018359723679E-5	0.0
18	32444034	C	T	18	34864070	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.11018359723679E-5	0.0
18	32446063	A	C	18	34866099	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.833166263982914	0.838
18	32446063	A	G	18	34866099	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.833166263982914	0.838
18	32446063	A	T	18	34866099	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.852530306309777	0.846
18	32446064	T	A	18	34866100	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.852530306309777	0.834
18	32446064	T	C	18	34866100	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.852530306309777	0.838
18	32446064	T	G	18	34866100	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.852530306309777	0.838
18	32446065	C	A	18	34866101	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.993819833547158	0.88
18	32446065	C	G	18	34866101	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99157712679808	0.854
18	32446065	C	T	18	34866101	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.993819833547158	0.888
18	32446066	T	A	18	34866102	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.852530306309777	0.84
18	32446066	T	C	18	34866102	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.852530306309777	0.846
18	32446066	T	G	18	34866102	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.852530306309777	0.846
18	32446067	T	A	18	34866103	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0700135444043503	0.23
18	32446067	T	C	18	34866103	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0199393090821167	0.144
18	32446067	T	G	18	34866103	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0199393090821167	0.144
18	32446068	T	A	18	34866104	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.91335385279169E-4	0.0
18	32446068	T	C	18	34866104	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.69968134076753E-4	0.0
18	32446068	T	G	18	34866104	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.69968134076753E-4	0.0
18	32446069	C	A	18	34866105	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00361888719624513	0.042
18	32446069	C	G	18	34866105	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00361888719624513	0.042
18	32446069	C	T	18	34866105	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00327451117831367	0.044
18	32446070	T	A	18	34866106	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0166553619860984	0.034
18	32446070	T	C	18	34866106	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00795550234021026	0.022
18	32446070	T	G	18	34866106	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00795550234021026	0.022
18	32446071	G	A	18	34866107	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00261102217652179	0.092
18	32446071	G	C	18	34866107	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00261102217652179	0.064
18	32446071	G	T	18	34866107	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00261102217652179	0.09
18	32446072	T	A	18	34866108	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.247557781323333	0.484
18	32446072	T	C	18	34866108	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0944221853156123	0.496
18	32446072	T	G	18	34866108	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0944221853156123	0.496
18	32446073	A	C	18	34866109	y	y	splicing	DTNA(NM_001198945:exon11:c.913-2A>C;NM_032979:exon17:c.1492-2A>C;NM_001198939:exon16:c.1483-2A>C;NM_001198941:exon15:c.1483-2A>C;NM_032978:exon17:c.1654-2A>C;NM_001391:exon17:c.1663-2A>C;NM_032981:exon8:c.529-2A>C)	.	.	splicing	ENSG00000134769(ENST00000596745:exon11:c.913-2A>C;ENST00000399121:exon16:c.1483-2A>C;ENST00000598774:exon16:c.1492-2A>C;ENST00000348997:exon17:c.1654-2A>C;ENST00000597599:exon15:c.1483-2A>C;ENST00000269191:exon17:c.1663-2A>C;ENST00000597674:exon8:c.529-2A>C;ENST00000599844:exon8:c.525-2A>C)	.	.	0.833166263982914	0.838
18	32446073	A	G	18	34866109	y	y	splicing	DTNA(NM_001198945:exon11:c.913-2A>G;NM_032979:exon17:c.1492-2A>G;NM_001198939:exon16:c.1483-2A>G;NM_001198941:exon15:c.1483-2A>G;NM_032978:exon17:c.1654-2A>G;NM_001391:exon17:c.1663-2A>G;NM_032981:exon8:c.529-2A>G)	.	.	splicing	ENSG00000134769(ENST00000596745:exon11:c.913-2A>G;ENST00000399121:exon16:c.1483-2A>G;ENST00000598774:exon16:c.1492-2A>G;ENST00000348997:exon17:c.1654-2A>G;ENST00000597599:exon15:c.1483-2A>G;ENST00000269191:exon17:c.1663-2A>G;ENST00000597674:exon8:c.529-2A>G;ENST00000599844:exon8:c.525-2A>G)	.	.	0.833166263982914	0.838
18	32446073	A	T	18	34866109	y	y	splicing	DTNA(NM_001198945:exon11:c.913-2A>T;NM_032979:exon17:c.1492-2A>T;NM_001198939:exon16:c.1483-2A>T;NM_001198941:exon15:c.1483-2A>T;NM_032978:exon17:c.1654-2A>T;NM_001391:exon17:c.1663-2A>T;NM_032981:exon8:c.529-2A>T)	.	.	splicing	ENSG00000134769(ENST00000596745:exon11:c.913-2A>T;ENST00000399121:exon16:c.1483-2A>T;ENST00000598774:exon16:c.1492-2A>T;ENST00000348997:exon17:c.1654-2A>T;ENST00000597599:exon15:c.1483-2A>T;ENST00000269191:exon17:c.1663-2A>T;ENST00000597674:exon8:c.529-2A>T;ENST00000599844:exon8:c.525-2A>T)	.	.	0.852530306309777	0.844
18	32446074	G	A	18	34866110	y	y	splicing	DTNA(NM_001198945:exon11:c.913-1G>A;NM_032979:exon17:c.1492-1G>A;NM_001198939:exon16:c.1483-1G>A;NM_001198941:exon15:c.1483-1G>A;NM_032978:exon17:c.1654-1G>A;NM_001391:exon17:c.1663-1G>A;NM_032981:exon8:c.529-1G>A)	.	.	splicing	ENSG00000134769(ENST00000596745:exon11:c.913-1G>A;ENST00000399121:exon16:c.1483-1G>A;ENST00000598774:exon16:c.1492-1G>A;ENST00000348997:exon17:c.1654-1G>A;ENST00000597599:exon15:c.1483-1G>A;ENST00000269191:exon17:c.1663-1G>A;ENST00000597674:exon8:c.529-1G>A;ENST00000599844:exon8:c.525-1G>A)	.	.	0.992322489175698	0.932
18	32446074	G	C	18	34866110	y	y	splicing	DTNA(NM_001198945:exon11:c.913-1G>C;NM_032979:exon17:c.1492-1G>C;NM_001198939:exon16:c.1483-1G>C;NM_001198941:exon15:c.1483-1G>C;NM_032978:exon17:c.1654-1G>C;NM_001391:exon17:c.1663-1G>C;NM_032981:exon8:c.529-1G>C)	.	.	splicing	ENSG00000134769(ENST00000596745:exon11:c.913-1G>C;ENST00000399121:exon16:c.1483-1G>C;ENST00000598774:exon16:c.1492-1G>C;ENST00000348997:exon17:c.1654-1G>C;ENST00000597599:exon15:c.1483-1G>C;ENST00000269191:exon17:c.1663-1G>C;ENST00000597674:exon8:c.529-1G>C;ENST00000599844:exon8:c.525-1G>C)	.	.	0.991123239346142	0.924
18	32446074	G	T	18	34866110	y	y	splicing	DTNA(NM_001198945:exon11:c.913-1G>T;NM_032979:exon17:c.1492-1G>T;NM_001198939:exon16:c.1483-1G>T;NM_001198941:exon15:c.1483-1G>T;NM_032978:exon17:c.1654-1G>T;NM_001391:exon17:c.1663-1G>T;NM_032981:exon8:c.529-1G>T)	.	.	splicing	ENSG00000134769(ENST00000596745:exon11:c.913-1G>T;ENST00000399121:exon16:c.1483-1G>T;ENST00000598774:exon16:c.1492-1G>T;ENST00000348997:exon17:c.1654-1G>T;ENST00000597599:exon15:c.1483-1G>T;ENST00000269191:exon17:c.1663-1G>T;ENST00000597674:exon8:c.529-1G>T;ENST00000599844:exon8:c.525-1G>T)	.	.	0.992322489175698	0.93
18	32446075	G	A	18	34866111	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon17:c.G1492A:p.E498K;DTNA:NM_032978:exon17:c.G1654A:p.E552K;DTNA:NM_001198945:exon11:c.G913A:p.E305K;DTNA:NM_001391:exon17:c.G1663A:p.E555K;DTNA:NM_032981:exon8:c.G529A:p.E177K;DTNA:NM_001198939:exon16:c.G1483A:p.E495K;DTNA:NM_001198941:exon15:c.G1483A:p.E495K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon17:c.G1654A:p.E552K;ENSG00000134769:ENST00000269191:exon17:c.G1663A:p.E555K;ENSG00000134769:ENST00000399121:exon16:c.G1483A:p.E495K;ENSG00000134769:ENST00000597599:exon15:c.G1483A:p.E495K;ENSG00000134769:ENST00000596745:exon11:c.G913A:p.E305K;ENSG00000134769:ENST00000597674:exon8:c.G529A:p.E177K;ENSG00000134769:ENST00000598774:exon16:c.G1492A:p.E498K;	0.99157712679808	0.854
18	32446075	G	C	18	34866111	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon17:c.G1492C:p.E498Q;DTNA:NM_032978:exon17:c.G1654C:p.E552Q;DTNA:NM_001198945:exon11:c.G913C:p.E305Q;DTNA:NM_001391:exon17:c.G1663C:p.E555Q;DTNA:NM_032981:exon8:c.G529C:p.E177Q;DTNA:NM_001198939:exon16:c.G1483C:p.E495Q;DTNA:NM_001198941:exon15:c.G1483C:p.E495Q;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon17:c.G1654C:p.E552Q;ENSG00000134769:ENST00000269191:exon17:c.G1663C:p.E555Q;ENSG00000134769:ENST00000399121:exon16:c.G1483C:p.E495Q;ENSG00000134769:ENST00000597599:exon15:c.G1483C:p.E495Q;ENSG00000134769:ENST00000596745:exon11:c.G913C:p.E305Q;ENSG00000134769:ENST00000597674:exon8:c.G529C:p.E177Q;ENSG00000134769:ENST00000598774:exon16:c.G1492C:p.E498Q;	0.992210540431992	0.852
18	32446075	G	T	18	34866111	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_032979:exon17:c.G1492T:p.E498X;DTNA:NM_032978:exon17:c.G1654T:p.E552X;DTNA:NM_001198945:exon11:c.G913T:p.E305X;DTNA:NM_001391:exon17:c.G1663T:p.E555X;DTNA:NM_032981:exon8:c.G529T:p.E177X;DTNA:NM_001198939:exon16:c.G1483T:p.E495X;DTNA:NM_001198941:exon15:c.G1483T:p.E495X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000348997:exon17:c.G1654T:p.E552X;ENSG00000134769:ENST00000269191:exon17:c.G1663T:p.E555X;ENSG00000134769:ENST00000399121:exon16:c.G1483T:p.E495X;ENSG00000134769:ENST00000597599:exon15:c.G1483T:p.E495X;ENSG00000134769:ENST00000596745:exon11:c.G913T:p.E305X;ENSG00000134769:ENST00000597674:exon8:c.G529T:p.E177X;ENSG00000134769:ENST00000598774:exon16:c.G1492T:p.E498X;	0.99455119184603	0.956
18	32446076	A	C	18	34866112	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon17:c.A1493C:p.E498A;DTNA:NM_032978:exon17:c.A1655C:p.E552A;DTNA:NM_001198945:exon11:c.A914C:p.E305A;DTNA:NM_001391:exon17:c.A1664C:p.E555A;DTNA:NM_032981:exon8:c.A530C:p.E177A;DTNA:NM_001198939:exon16:c.A1484C:p.E495A;DTNA:NM_001198941:exon15:c.A1484C:p.E495A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon17:c.A1655C:p.E552A;ENSG00000134769:ENST00000269191:exon17:c.A1664C:p.E555A;ENSG00000134769:ENST00000399121:exon16:c.A1484C:p.E495A;ENSG00000134769:ENST00000597599:exon15:c.A1484C:p.E495A;ENSG00000134769:ENST00000596745:exon11:c.A914C:p.E305A;ENSG00000134769:ENST00000597674:exon8:c.A530C:p.E177A;ENSG00000134769:ENST00000598774:exon16:c.A1493C:p.E498A;	0.247557781323333	0.48
18	32446076	A	G	18	34866112	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon17:c.A1493G:p.E498G;DTNA:NM_032978:exon17:c.A1655G:p.E552G;DTNA:NM_001198945:exon11:c.A914G:p.E305G;DTNA:NM_001391:exon17:c.A1664G:p.E555G;DTNA:NM_032981:exon8:c.A530G:p.E177G;DTNA:NM_001198939:exon16:c.A1484G:p.E495G;DTNA:NM_001198941:exon15:c.A1484G:p.E495G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon17:c.A1655G:p.E552G;ENSG00000134769:ENST00000269191:exon17:c.A1664G:p.E555G;ENSG00000134769:ENST00000399121:exon16:c.A1484G:p.E495G;ENSG00000134769:ENST00000597599:exon15:c.A1484G:p.E495G;ENSG00000134769:ENST00000596745:exon11:c.A914G:p.E305G;ENSG00000134769:ENST00000597674:exon8:c.A530G:p.E177G;ENSG00000134769:ENST00000598774:exon16:c.A1493G:p.E498G;	0.865818055659853	0.812
18	32446076	A	T	18	34866112	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_032979:exon17:c.A1493T:p.E498V;DTNA:NM_032978:exon17:c.A1655T:p.E552V;DTNA:NM_001198945:exon11:c.A914T:p.E305V;DTNA:NM_001391:exon17:c.A1664T:p.E555V;DTNA:NM_032981:exon8:c.A530T:p.E177V;DTNA:NM_001198939:exon16:c.A1484T:p.E495V;DTNA:NM_001198941:exon15:c.A1484T:p.E495V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000348997:exon17:c.A1655T:p.E552V;ENSG00000134769:ENST00000269191:exon17:c.A1664T:p.E555V;ENSG00000134769:ENST00000399121:exon16:c.A1484T:p.E495V;ENSG00000134769:ENST00000597599:exon15:c.A1484T:p.E495V;ENSG00000134769:ENST00000596745:exon11:c.A914T:p.E305V;ENSG00000134769:ENST00000597674:exon8:c.A530T:p.E177V;ENSG00000134769:ENST00000598774:exon16:c.A1493T:p.E498V;	0.887788286601204	0.78
18	32455191	T	A	18	34875227	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999341578144894	0.882
18	32455191	T	C	18	34875227	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.796493474572905	0.458
18	32455191	T	G	18	34875227	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999934484489144	0.966
18	32455192	T	A	18	34875228	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999985889219228	0.978
18	32455192	T	C	18	34875228	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.981222329214601	0.598
18	32455192	T	G	18	34875228	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999784327596779	0.936
18	32455193	G	A	18	34875229	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.996608659750792	0.84
18	32455193	G	C	18	34875229	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.984459528244975	0.726
18	32455193	G	T	18	34875229	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.965414115498749	0.682
18	32455194	T	A	18	34875230	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999908644620981	0.924
18	32455194	T	C	18	34875230	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.724349127716427	0.504
18	32455194	T	G	18	34875230	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999859895734342	0.926
18	32455195	C	A	18	34875231	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0373741907371478	0.194
18	32455195	C	G	18	34875231	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0297782690118302	0.13
18	32455195	C	T	18	34875231	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00150496204836893	0.092
18	32455196	T	A	18	34875232	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99833926782671	0.932
18	32455196	T	C	18	34875232	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00263630151438031	0.164
18	32455196	T	G	18	34875232	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.978166671863031	0.874
18	32455197	C	A	18	34875233	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.307651303924464	0.344
18	32455197	C	G	18	34875233	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.294617696801812	0.338
18	32455197	C	T	18	34875233	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.23276155984847E-4	0.048
18	32455198	T	A	18	34875234	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.646682107557741	0.618
18	32455198	T	C	18	34875234	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00157557356316462	0.134
18	32455198	T	G	18	34875234	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.680812435739867	0.658
18	32455199	C	A	18	34875235	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.055337601852E-4	0.026
18	32455199	C	G	18	34875235	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.00612010392931E-4	0.02
18	32455199	C	T	18	34875235	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.055337601852E-4	0.024
18	32455200	C	A	18	34875236	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999855936580135	0.966
18	32455200	C	G	18	34875236	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999836001942685	0.99
18	32455200	C	T	18	34875236	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.964479233084811	0.364
18	32455201	A	C	18	34875237	y	y	splicing	DTNA(NM_032975:exon17:c.1492-2A>C;NM_001198940:exon16:c.1483-2A>C;NM_001198939:exon17:c.1504-2A>C;NM_001198938:exon16:c.1483-2A>C;NM_001390:exon17:c.1663-2A>C;NM_001198943:exon8:c.733-2A>C;NM_001198944:exon9:c.619-2A>C;NM_001198942:exon11:c.790-2A>C;NM_032980:exon9:c.607-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1492-2A>C;ENST00000598334:exon16:c.1483-2A>C;ENST00000399121:exon17:c.1504-2A>C;ENST00000399097:exon17:c.607-2A>C;ENST00000269190:exon20:c.1666-2A>C;ENST00000595022:exon16:c.1483-2A>C;ENST00000598142:exon16:c.1492-2A>C;ENST00000444659:exon17:c.1663-2A>C;ENST00000399113:exon17:c.1663-2A>C;ENST00000601125:exon8:c.529-2A>C;ENST00000269192:exon11:c.790-2A>C;ENST00000591182:exon9:c.607-2A>C;ENST00000556414:exon9:c.619-2A>C)	.	.	0.999988247793601	0.95
18	32455201	A	G	18	34875237	y	y	splicing	DTNA(NM_032975:exon17:c.1492-2A>G;NM_001198940:exon16:c.1483-2A>G;NM_001198939:exon17:c.1504-2A>G;NM_001198938:exon16:c.1483-2A>G;NM_001390:exon17:c.1663-2A>G;NM_001198943:exon8:c.733-2A>G;NM_001198944:exon9:c.619-2A>G;NM_001198942:exon11:c.790-2A>G;NM_032980:exon9:c.607-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1492-2A>G;ENST00000598334:exon16:c.1483-2A>G;ENST00000399121:exon17:c.1504-2A>G;ENST00000399097:exon17:c.607-2A>G;ENST00000269190:exon20:c.1666-2A>G;ENST00000595022:exon16:c.1483-2A>G;ENST00000598142:exon16:c.1492-2A>G;ENST00000444659:exon17:c.1663-2A>G;ENST00000399113:exon17:c.1663-2A>G;ENST00000601125:exon8:c.529-2A>G;ENST00000269192:exon11:c.790-2A>G;ENST00000591182:exon9:c.607-2A>G;ENST00000556414:exon9:c.619-2A>G)	.	.	0.999988247793601	0.95
18	32455201	A	T	18	34875237	y	y	splicing	DTNA(NM_032975:exon17:c.1492-2A>T;NM_001198940:exon16:c.1483-2A>T;NM_001198939:exon17:c.1504-2A>T;NM_001198938:exon16:c.1483-2A>T;NM_001390:exon17:c.1663-2A>T;NM_001198943:exon8:c.733-2A>T;NM_001198944:exon9:c.619-2A>T;NM_001198942:exon11:c.790-2A>T;NM_032980:exon9:c.607-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1492-2A>T;ENST00000598334:exon16:c.1483-2A>T;ENST00000399121:exon17:c.1504-2A>T;ENST00000399097:exon17:c.607-2A>T;ENST00000269190:exon20:c.1666-2A>T;ENST00000595022:exon16:c.1483-2A>T;ENST00000598142:exon16:c.1492-2A>T;ENST00000444659:exon17:c.1663-2A>T;ENST00000399113:exon17:c.1663-2A>T;ENST00000601125:exon8:c.529-2A>T;ENST00000269192:exon11:c.790-2A>T;ENST00000591182:exon9:c.607-2A>T;ENST00000556414:exon9:c.619-2A>T)	.	.	0.999988247793601	0.95
18	32455202	G	A	18	34875238	y	y	splicing	DTNA(NM_032975:exon17:c.1492-1G>A;NM_001198940:exon16:c.1483-1G>A;NM_001198939:exon17:c.1504-1G>A;NM_001198938:exon16:c.1483-1G>A;NM_001390:exon17:c.1663-1G>A;NM_001198943:exon8:c.733-1G>A;NM_001198944:exon9:c.619-1G>A;NM_001198942:exon11:c.790-1G>A;NM_032980:exon9:c.607-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1492-1G>A;ENST00000598334:exon16:c.1483-1G>A;ENST00000399121:exon17:c.1504-1G>A;ENST00000399097:exon17:c.607-1G>A;ENST00000269190:exon20:c.1666-1G>A;ENST00000595022:exon16:c.1483-1G>A;ENST00000598142:exon16:c.1492-1G>A;ENST00000444659:exon17:c.1663-1G>A;ENST00000399113:exon17:c.1663-1G>A;ENST00000601125:exon8:c.529-1G>A;ENST00000269192:exon11:c.790-1G>A;ENST00000591182:exon9:c.607-1G>A;ENST00000556414:exon9:c.619-1G>A)	.	.	0.999990361384395	0.948
18	32455202	G	C	18	34875238	y	y	splicing	DTNA(NM_032975:exon17:c.1492-1G>C;NM_001198940:exon16:c.1483-1G>C;NM_001198939:exon17:c.1504-1G>C;NM_001198938:exon16:c.1483-1G>C;NM_001390:exon17:c.1663-1G>C;NM_001198943:exon8:c.733-1G>C;NM_001198944:exon9:c.619-1G>C;NM_001198942:exon11:c.790-1G>C;NM_032980:exon9:c.607-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1492-1G>C;ENST00000598334:exon16:c.1483-1G>C;ENST00000399121:exon17:c.1504-1G>C;ENST00000399097:exon17:c.607-1G>C;ENST00000269190:exon20:c.1666-1G>C;ENST00000595022:exon16:c.1483-1G>C;ENST00000598142:exon16:c.1492-1G>C;ENST00000444659:exon17:c.1663-1G>C;ENST00000399113:exon17:c.1663-1G>C;ENST00000601125:exon8:c.529-1G>C;ENST00000269192:exon11:c.790-1G>C;ENST00000591182:exon9:c.607-1G>C;ENST00000556414:exon9:c.619-1G>C)	.	.	0.999990361384395	0.948
18	32455202	G	T	18	34875238	y	y	splicing	DTNA(NM_032975:exon17:c.1492-1G>T;NM_001198940:exon16:c.1483-1G>T;NM_001198939:exon17:c.1504-1G>T;NM_001198938:exon16:c.1483-1G>T;NM_001390:exon17:c.1663-1G>T;NM_001198943:exon8:c.733-1G>T;NM_001198944:exon9:c.619-1G>T;NM_001198942:exon11:c.790-1G>T;NM_032980:exon9:c.607-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1492-1G>T;ENST00000598334:exon16:c.1483-1G>T;ENST00000399121:exon17:c.1504-1G>T;ENST00000399097:exon17:c.607-1G>T;ENST00000269190:exon20:c.1666-1G>T;ENST00000595022:exon16:c.1483-1G>T;ENST00000598142:exon16:c.1492-1G>T;ENST00000444659:exon17:c.1663-1G>T;ENST00000399113:exon17:c.1663-1G>T;ENST00000601125:exon8:c.529-1G>T;ENST00000269192:exon11:c.790-1G>T;ENST00000591182:exon9:c.607-1G>T;ENST00000556414:exon9:c.619-1G>T)	.	.	0.999990361384395	0.948
18	32455203	A	C	18	34875239	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1663C:p.T555P;DTNA:NM_001198938:exon16:c.A1483C:p.T495P;DTNA:NM_001198943:exon8:c.A733C:p.T245P;DTNA:NM_001198942:exon11:c.A790C:p.T264P;DTNA:NM_001198944:exon9:c.A619C:p.T207P;DTNA:NM_001198940:exon16:c.A1483C:p.T495P;DTNA:NM_001198939:exon17:c.A1504C:p.T502P;DTNA:NM_032980:exon9:c.A607C:p.T203P;DTNA:NM_032975:exon17:c.A1492C:p.T498P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A607C:p.T203P;ENSG00000134769:ENST00000598334:exon16:c.A1483C:p.T495P;ENSG00000134769:ENST00000595022:exon16:c.A1483C:p.T495P;ENSG00000134769:ENST00000444659:exon17:c.A1663C:p.T555P;ENSG00000134769:ENST00000283365:exon17:c.A1492C:p.T498P;ENSG00000134769:ENST00000399113:exon17:c.A1663C:p.T555P;ENSG00000134769:ENST00000556414:exon9:c.A619C:p.T207P;ENSG00000134769:ENST00000269190:exon20:c.A1666C:p.T556P;ENSG00000134769:ENST00000399121:exon17:c.A1504C:p.T502P;ENSG00000134769:ENST00000269192:exon11:c.A790C:p.T264P;ENSG00000134769:ENST00000591182:exon9:c.A607C:p.T203P;ENSG00000134769:ENST00000598142:exon16:c.A1492C:p.T498P;ENSG00000134769:ENST00000601125:exon8:c.A529C:p.T177P;	0.948116907442999	0.622
18	32455203	A	G	18	34875239	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1663G:p.T555A;DTNA:NM_001198938:exon16:c.A1483G:p.T495A;DTNA:NM_001198943:exon8:c.A733G:p.T245A;DTNA:NM_001198942:exon11:c.A790G:p.T264A;DTNA:NM_001198944:exon9:c.A619G:p.T207A;DTNA:NM_001198940:exon16:c.A1483G:p.T495A;DTNA:NM_001198939:exon17:c.A1504G:p.T502A;DTNA:NM_032980:exon9:c.A607G:p.T203A;DTNA:NM_032975:exon17:c.A1492G:p.T498A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A607G:p.T203A;ENSG00000134769:ENST00000598334:exon16:c.A1483G:p.T495A;ENSG00000134769:ENST00000595022:exon16:c.A1483G:p.T495A;ENSG00000134769:ENST00000444659:exon17:c.A1663G:p.T555A;ENSG00000134769:ENST00000283365:exon17:c.A1492G:p.T498A;ENSG00000134769:ENST00000399113:exon17:c.A1663G:p.T555A;ENSG00000134769:ENST00000556414:exon9:c.A619G:p.T207A;ENSG00000134769:ENST00000269190:exon20:c.A1666G:p.T556A;ENSG00000134769:ENST00000399121:exon17:c.A1504G:p.T502A;ENSG00000134769:ENST00000269192:exon11:c.A790G:p.T264A;ENSG00000134769:ENST00000591182:exon9:c.A607G:p.T203A;ENSG00000134769:ENST00000598142:exon16:c.A1492G:p.T498A;ENSG00000134769:ENST00000601125:exon8:c.A529G:p.T177A;	0.00164902413319158	0.018
18	32455203	A	T	18	34875239	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1663T:p.T555S;DTNA:NM_001198938:exon16:c.A1483T:p.T495S;DTNA:NM_001198943:exon8:c.A733T:p.T245S;DTNA:NM_001198942:exon11:c.A790T:p.T264S;DTNA:NM_001198944:exon9:c.A619T:p.T207S;DTNA:NM_001198940:exon16:c.A1483T:p.T495S;DTNA:NM_001198939:exon17:c.A1504T:p.T502S;DTNA:NM_032980:exon9:c.A607T:p.T203S;DTNA:NM_032975:exon17:c.A1492T:p.T498S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A607T:p.T203S;ENSG00000134769:ENST00000598334:exon16:c.A1483T:p.T495S;ENSG00000134769:ENST00000595022:exon16:c.A1483T:p.T495S;ENSG00000134769:ENST00000444659:exon17:c.A1663T:p.T555S;ENSG00000134769:ENST00000283365:exon17:c.A1492T:p.T498S;ENSG00000134769:ENST00000399113:exon17:c.A1663T:p.T555S;ENSG00000134769:ENST00000556414:exon9:c.A619T:p.T207S;ENSG00000134769:ENST00000269190:exon20:c.A1666T:p.T556S;ENSG00000134769:ENST00000399121:exon17:c.A1504T:p.T502S;ENSG00000134769:ENST00000269192:exon11:c.A790T:p.T264S;ENSG00000134769:ENST00000591182:exon9:c.A607T:p.T203S;ENSG00000134769:ENST00000598142:exon16:c.A1492T:p.T498S;ENSG00000134769:ENST00000601125:exon8:c.A529T:p.T177S;	0.884756421119635	0.53
18	32455204	C	A	18	34875240	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.C1664A:p.T555N;DTNA:NM_001198938:exon16:c.C1484A:p.T495N;DTNA:NM_001198943:exon8:c.C734A:p.T245N;DTNA:NM_001198942:exon11:c.C791A:p.T264N;DTNA:NM_001198944:exon9:c.C620A:p.T207N;DTNA:NM_001198940:exon16:c.C1484A:p.T495N;DTNA:NM_001198939:exon17:c.C1505A:p.T502N;DTNA:NM_032980:exon9:c.C608A:p.T203N;DTNA:NM_032975:exon17:c.C1493A:p.T498N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.C608A:p.T203N;ENSG00000134769:ENST00000598334:exon16:c.C1484A:p.T495N;ENSG00000134769:ENST00000595022:exon16:c.C1484A:p.T495N;ENSG00000134769:ENST00000444659:exon17:c.C1664A:p.T555N;ENSG00000134769:ENST00000283365:exon17:c.C1493A:p.T498N;ENSG00000134769:ENST00000399113:exon17:c.C1664A:p.T555N;ENSG00000134769:ENST00000556414:exon9:c.C620A:p.T207N;ENSG00000134769:ENST00000269190:exon20:c.C1667A:p.T556N;ENSG00000134769:ENST00000399121:exon17:c.C1505A:p.T502N;ENSG00000134769:ENST00000269192:exon11:c.C791A:p.T264N;ENSG00000134769:ENST00000591182:exon9:c.C608A:p.T203N;ENSG00000134769:ENST00000598142:exon16:c.C1493A:p.T498N;ENSG00000134769:ENST00000601125:exon8:c.C530A:p.T177N;	0.980247759385979	0.818
18	32455204	C	G	18	34875240	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.C1664G:p.T555S;DTNA:NM_001198938:exon16:c.C1484G:p.T495S;DTNA:NM_001198943:exon8:c.C734G:p.T245S;DTNA:NM_001198942:exon11:c.C791G:p.T264S;DTNA:NM_001198944:exon9:c.C620G:p.T207S;DTNA:NM_001198940:exon16:c.C1484G:p.T495S;DTNA:NM_001198939:exon17:c.C1505G:p.T502S;DTNA:NM_032980:exon9:c.C608G:p.T203S;DTNA:NM_032975:exon17:c.C1493G:p.T498S;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.C608G:p.T203S;ENSG00000134769:ENST00000598334:exon16:c.C1484G:p.T495S;ENSG00000134769:ENST00000595022:exon16:c.C1484G:p.T495S;ENSG00000134769:ENST00000444659:exon17:c.C1664G:p.T555S;ENSG00000134769:ENST00000283365:exon17:c.C1493G:p.T498S;ENSG00000134769:ENST00000399113:exon17:c.C1664G:p.T555S;ENSG00000134769:ENST00000556414:exon9:c.C620G:p.T207S;ENSG00000134769:ENST00000269190:exon20:c.C1667G:p.T556S;ENSG00000134769:ENST00000399121:exon17:c.C1505G:p.T502S;ENSG00000134769:ENST00000269192:exon11:c.C791G:p.T264S;ENSG00000134769:ENST00000591182:exon9:c.C608G:p.T203S;ENSG00000134769:ENST00000598142:exon16:c.C1493G:p.T498S;ENSG00000134769:ENST00000601125:exon8:c.C530G:p.T177S;	0.993771340232646	0.714
18	32455204	C	T	18	34875240	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.C1664T:p.T555I;DTNA:NM_001198938:exon16:c.C1484T:p.T495I;DTNA:NM_001198943:exon8:c.C734T:p.T245I;DTNA:NM_001198942:exon11:c.C791T:p.T264I;DTNA:NM_001198944:exon9:c.C620T:p.T207I;DTNA:NM_001198940:exon16:c.C1484T:p.T495I;DTNA:NM_001198939:exon17:c.C1505T:p.T502I;DTNA:NM_032980:exon9:c.C608T:p.T203I;DTNA:NM_032975:exon17:c.C1493T:p.T498I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.C608T:p.T203I;ENSG00000134769:ENST00000598334:exon16:c.C1484T:p.T495I;ENSG00000134769:ENST00000595022:exon16:c.C1484T:p.T495I;ENSG00000134769:ENST00000444659:exon17:c.C1664T:p.T555I;ENSG00000134769:ENST00000283365:exon17:c.C1493T:p.T498I;ENSG00000134769:ENST00000399113:exon17:c.C1664T:p.T555I;ENSG00000134769:ENST00000556414:exon9:c.C620T:p.T207I;ENSG00000134769:ENST00000269190:exon20:c.C1667T:p.T556I;ENSG00000134769:ENST00000399121:exon17:c.C1505T:p.T502I;ENSG00000134769:ENST00000269192:exon11:c.C791T:p.T264I;ENSG00000134769:ENST00000591182:exon9:c.C608T:p.T203I;ENSG00000134769:ENST00000598142:exon16:c.C1493T:p.T498I;ENSG00000134769:ENST00000601125:exon8:c.C530T:p.T177I;	0.977770104346795	0.79
18	32455360	A	C	18	34875396	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1820C:p.Q607P;DTNA:NM_001198938:exon16:c.A1640C:p.Q547P;DTNA:NM_001198943:exon8:c.A890C:p.Q297P;DTNA:NM_001198942:exon11:c.A947C:p.Q316P;DTNA:NM_001198944:exon9:c.A776C:p.Q259P;DTNA:NM_001198940:exon16:c.A1640C:p.Q547P;DTNA:NM_001198939:exon17:c.A1661C:p.Q554P;DTNA:NM_032980:exon9:c.A764C:p.Q255P;DTNA:NM_032975:exon17:c.A1649C:p.Q550P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A764C:p.Q255P;ENSG00000134769:ENST00000598334:exon16:c.A1640C:p.Q547P;ENSG00000134769:ENST00000595022:exon16:c.A1640C:p.Q547P;ENSG00000134769:ENST00000444659:exon17:c.A1820C:p.Q607P;ENSG00000134769:ENST00000283365:exon17:c.A1649C:p.Q550P;ENSG00000134769:ENST00000399113:exon17:c.A1820C:p.Q607P;ENSG00000134769:ENST00000556414:exon9:c.A776C:p.Q259P;ENSG00000134769:ENST00000269190:exon20:c.A1823C:p.Q608P;ENSG00000134769:ENST00000399121:exon17:c.A1661C:p.Q554P;ENSG00000134769:ENST00000590831:exon1:c.A98C:p.Q33P;ENSG00000134769:ENST00000269192:exon11:c.A947C:p.Q316P;ENSG00000134769:ENST00000591182:exon9:c.A764C:p.Q255P;ENSG00000134769:ENST00000598142:exon16:c.A1649C:p.Q550P;ENSG00000134769:ENST00000601125:exon8:c.A686C:p.Q229P;	0.84007843456749	0.78
18	32455360	A	G	18	34875396	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1820G:p.Q607R;DTNA:NM_001198938:exon16:c.A1640G:p.Q547R;DTNA:NM_001198943:exon8:c.A890G:p.Q297R;DTNA:NM_001198942:exon11:c.A947G:p.Q316R;DTNA:NM_001198944:exon9:c.A776G:p.Q259R;DTNA:NM_001198940:exon16:c.A1640G:p.Q547R;DTNA:NM_001198939:exon17:c.A1661G:p.Q554R;DTNA:NM_032980:exon9:c.A764G:p.Q255R;DTNA:NM_032975:exon17:c.A1649G:p.Q550R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A764G:p.Q255R;ENSG00000134769:ENST00000598334:exon16:c.A1640G:p.Q547R;ENSG00000134769:ENST00000595022:exon16:c.A1640G:p.Q547R;ENSG00000134769:ENST00000444659:exon17:c.A1820G:p.Q607R;ENSG00000134769:ENST00000283365:exon17:c.A1649G:p.Q550R;ENSG00000134769:ENST00000399113:exon17:c.A1820G:p.Q607R;ENSG00000134769:ENST00000556414:exon9:c.A776G:p.Q259R;ENSG00000134769:ENST00000269190:exon20:c.A1823G:p.Q608R;ENSG00000134769:ENST00000399121:exon17:c.A1661G:p.Q554R;ENSG00000134769:ENST00000590831:exon1:c.A98G:p.Q33R;ENSG00000134769:ENST00000269192:exon11:c.A947G:p.Q316R;ENSG00000134769:ENST00000591182:exon9:c.A764G:p.Q255R;ENSG00000134769:ENST00000598142:exon16:c.A1649G:p.Q550R;ENSG00000134769:ENST00000601125:exon8:c.A686G:p.Q229R;	0.800380682291977	0.568
18	32455360	A	T	18	34875396	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1820T:p.Q607L;DTNA:NM_001198938:exon16:c.A1640T:p.Q547L;DTNA:NM_001198943:exon8:c.A890T:p.Q297L;DTNA:NM_001198942:exon11:c.A947T:p.Q316L;DTNA:NM_001198944:exon9:c.A776T:p.Q259L;DTNA:NM_001198940:exon16:c.A1640T:p.Q547L;DTNA:NM_001198939:exon17:c.A1661T:p.Q554L;DTNA:NM_032980:exon9:c.A764T:p.Q255L;DTNA:NM_032975:exon17:c.A1649T:p.Q550L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A764T:p.Q255L;ENSG00000134769:ENST00000598334:exon16:c.A1640T:p.Q547L;ENSG00000134769:ENST00000595022:exon16:c.A1640T:p.Q547L;ENSG00000134769:ENST00000444659:exon17:c.A1820T:p.Q607L;ENSG00000134769:ENST00000283365:exon17:c.A1649T:p.Q550L;ENSG00000134769:ENST00000399113:exon17:c.A1820T:p.Q607L;ENSG00000134769:ENST00000556414:exon9:c.A776T:p.Q259L;ENSG00000134769:ENST00000269190:exon20:c.A1823T:p.Q608L;ENSG00000134769:ENST00000399121:exon17:c.A1661T:p.Q554L;ENSG00000134769:ENST00000590831:exon1:c.A98T:p.Q33L;ENSG00000134769:ENST00000269192:exon11:c.A947T:p.Q316L;ENSG00000134769:ENST00000591182:exon9:c.A764T:p.Q255L;ENSG00000134769:ENST00000598142:exon16:c.A1649T:p.Q550L;ENSG00000134769:ENST00000601125:exon8:c.A686T:p.Q229L;	0.980619495495848	0.704
18	32455361	A	C	18	34875397	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1821C:p.Q607H;DTNA:NM_001198938:exon16:c.A1641C:p.Q547H;DTNA:NM_001198943:exon8:c.A891C:p.Q297H;DTNA:NM_001198942:exon11:c.A948C:p.Q316H;DTNA:NM_001198944:exon9:c.A777C:p.Q259H;DTNA:NM_001198940:exon16:c.A1641C:p.Q547H;DTNA:NM_001198939:exon17:c.A1662C:p.Q554H;DTNA:NM_032980:exon9:c.A765C:p.Q255H;DTNA:NM_032975:exon17:c.A1650C:p.Q550H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A765C:p.Q255H;ENSG00000134769:ENST00000598334:exon16:c.A1641C:p.Q547H;ENSG00000134769:ENST00000595022:exon16:c.A1641C:p.Q547H;ENSG00000134769:ENST00000444659:exon17:c.A1821C:p.Q607H;ENSG00000134769:ENST00000283365:exon17:c.A1650C:p.Q550H;ENSG00000134769:ENST00000399113:exon17:c.A1821C:p.Q607H;ENSG00000134769:ENST00000556414:exon9:c.A777C:p.Q259H;ENSG00000134769:ENST00000269190:exon20:c.A1824C:p.Q608H;ENSG00000134769:ENST00000399121:exon17:c.A1662C:p.Q554H;ENSG00000134769:ENST00000590831:exon1:c.A99C:p.Q33H;ENSG00000134769:ENST00000269192:exon11:c.A948C:p.Q316H;ENSG00000134769:ENST00000591182:exon9:c.A765C:p.Q255H;ENSG00000134769:ENST00000598142:exon16:c.A1650C:p.Q550H;ENSG00000134769:ENST00000601125:exon8:c.A687C:p.Q229H;	0.932978714818881	0.716
18	32455361	A	G	18	34875397	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001390:exon17:c.A1821G:p.Q607Q;DTNA:NM_001198938:exon16:c.A1641G:p.Q547Q;DTNA:NM_001198943:exon8:c.A891G:p.Q297Q;DTNA:NM_001198942:exon11:c.A948G:p.Q316Q;DTNA:NM_001198944:exon9:c.A777G:p.Q259Q;DTNA:NM_001198940:exon16:c.A1641G:p.Q547Q;DTNA:NM_001198939:exon17:c.A1662G:p.Q554Q;DTNA:NM_032980:exon9:c.A765G:p.Q255Q;DTNA:NM_032975:exon17:c.A1650G:p.Q550Q;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A765G:p.Q255Q;ENSG00000134769:ENST00000598334:exon16:c.A1641G:p.Q547Q;ENSG00000134769:ENST00000595022:exon16:c.A1641G:p.Q547Q;ENSG00000134769:ENST00000444659:exon17:c.A1821G:p.Q607Q;ENSG00000134769:ENST00000283365:exon17:c.A1650G:p.Q550Q;ENSG00000134769:ENST00000399113:exon17:c.A1821G:p.Q607Q;ENSG00000134769:ENST00000556414:exon9:c.A777G:p.Q259Q;ENSG00000134769:ENST00000269190:exon20:c.A1824G:p.Q608Q;ENSG00000134769:ENST00000399121:exon17:c.A1662G:p.Q554Q;ENSG00000134769:ENST00000590831:exon1:c.A99G:p.Q33Q;ENSG00000134769:ENST00000269192:exon11:c.A948G:p.Q316Q;ENSG00000134769:ENST00000591182:exon9:c.A765G:p.Q255Q;ENSG00000134769:ENST00000598142:exon16:c.A1650G:p.Q550Q;ENSG00000134769:ENST00000601125:exon8:c.A687G:p.Q229Q;	0.178189982809649	0.388
18	32455361	A	T	18	34875397	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1821T:p.Q607H;DTNA:NM_001198938:exon16:c.A1641T:p.Q547H;DTNA:NM_001198943:exon8:c.A891T:p.Q297H;DTNA:NM_001198942:exon11:c.A948T:p.Q316H;DTNA:NM_001198944:exon9:c.A777T:p.Q259H;DTNA:NM_001198940:exon16:c.A1641T:p.Q547H;DTNA:NM_001198939:exon17:c.A1662T:p.Q554H;DTNA:NM_032980:exon9:c.A765T:p.Q255H;DTNA:NM_032975:exon17:c.A1650T:p.Q550H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A765T:p.Q255H;ENSG00000134769:ENST00000598334:exon16:c.A1641T:p.Q547H;ENSG00000134769:ENST00000595022:exon16:c.A1641T:p.Q547H;ENSG00000134769:ENST00000444659:exon17:c.A1821T:p.Q607H;ENSG00000134769:ENST00000283365:exon17:c.A1650T:p.Q550H;ENSG00000134769:ENST00000399113:exon17:c.A1821T:p.Q607H;ENSG00000134769:ENST00000556414:exon9:c.A777T:p.Q259H;ENSG00000134769:ENST00000269190:exon20:c.A1824T:p.Q608H;ENSG00000134769:ENST00000399121:exon17:c.A1662T:p.Q554H;ENSG00000134769:ENST00000590831:exon1:c.A99T:p.Q33H;ENSG00000134769:ENST00000269192:exon11:c.A948T:p.Q316H;ENSG00000134769:ENST00000591182:exon9:c.A765T:p.Q255H;ENSG00000134769:ENST00000598142:exon16:c.A1650T:p.Q550H;ENSG00000134769:ENST00000601125:exon8:c.A687T:p.Q229H;	0.973057219005805	0.778
18	32455362	A	C	18	34875398	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1822C:p.S608R;DTNA:NM_001198938:exon16:c.A1642C:p.S548R;DTNA:NM_001198943:exon8:c.A892C:p.S298R;DTNA:NM_001198942:exon11:c.A949C:p.S317R;DTNA:NM_001198944:exon9:c.A778C:p.S260R;DTNA:NM_001198940:exon16:c.A1642C:p.S548R;DTNA:NM_001198939:exon17:c.A1663C:p.S555R;DTNA:NM_032980:exon9:c.A766C:p.S256R;DTNA:NM_032975:exon17:c.A1651C:p.S551R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A766C:p.S256R;ENSG00000134769:ENST00000598334:exon16:c.A1642C:p.S548R;ENSG00000134769:ENST00000595022:exon16:c.A1642C:p.S548R;ENSG00000134769:ENST00000444659:exon17:c.A1822C:p.S608R;ENSG00000134769:ENST00000283365:exon17:c.A1651C:p.S551R;ENSG00000134769:ENST00000399113:exon17:c.A1822C:p.S608R;ENSG00000134769:ENST00000556414:exon9:c.A778C:p.S260R;ENSG00000134769:ENST00000269190:exon20:c.A1825C:p.S609R;ENSG00000134769:ENST00000399121:exon17:c.A1663C:p.S555R;ENSG00000134769:ENST00000590831:exon1:c.A100C:p.S34R;ENSG00000134769:ENST00000269192:exon11:c.A949C:p.S317R;ENSG00000134769:ENST00000591182:exon9:c.A766C:p.S256R;ENSG00000134769:ENST00000598142:exon16:c.A1651C:p.S551R;ENSG00000134769:ENST00000601125:exon8:c.A688C:p.S230R;	0.487298939219793	0.662
18	32455362	A	G	18	34875398	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1822G:p.S608G;DTNA:NM_001198938:exon16:c.A1642G:p.S548G;DTNA:NM_001198943:exon8:c.A892G:p.S298G;DTNA:NM_001198942:exon11:c.A949G:p.S317G;DTNA:NM_001198944:exon9:c.A778G:p.S260G;DTNA:NM_001198940:exon16:c.A1642G:p.S548G;DTNA:NM_001198939:exon17:c.A1663G:p.S555G;DTNA:NM_032980:exon9:c.A766G:p.S256G;DTNA:NM_032975:exon17:c.A1651G:p.S551G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A766G:p.S256G;ENSG00000134769:ENST00000598334:exon16:c.A1642G:p.S548G;ENSG00000134769:ENST00000595022:exon16:c.A1642G:p.S548G;ENSG00000134769:ENST00000444659:exon17:c.A1822G:p.S608G;ENSG00000134769:ENST00000283365:exon17:c.A1651G:p.S551G;ENSG00000134769:ENST00000399113:exon17:c.A1822G:p.S608G;ENSG00000134769:ENST00000556414:exon9:c.A778G:p.S260G;ENSG00000134769:ENST00000269190:exon20:c.A1825G:p.S609G;ENSG00000134769:ENST00000399121:exon17:c.A1663G:p.S555G;ENSG00000134769:ENST00000590831:exon1:c.A100G:p.S34G;ENSG00000134769:ENST00000269192:exon11:c.A949G:p.S317G;ENSG00000134769:ENST00000591182:exon9:c.A766G:p.S256G;ENSG00000134769:ENST00000598142:exon16:c.A1651G:p.S551G;ENSG00000134769:ENST00000601125:exon8:c.A688G:p.S230G;	5.78975627572505E-4	0.034
18	32455362	A	T	18	34875398	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon17:c.A1822T:p.S608C;DTNA:NM_001198938:exon16:c.A1642T:p.S548C;DTNA:NM_001198943:exon8:c.A892T:p.S298C;DTNA:NM_001198942:exon11:c.A949T:p.S317C;DTNA:NM_001198944:exon9:c.A778T:p.S260C;DTNA:NM_001198940:exon16:c.A1642T:p.S548C;DTNA:NM_001198939:exon17:c.A1663T:p.S555C;DTNA:NM_032980:exon9:c.A766T:p.S256C;DTNA:NM_032975:exon17:c.A1651T:p.S551C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon17:c.A766T:p.S256C;ENSG00000134769:ENST00000598334:exon16:c.A1642T:p.S548C;ENSG00000134769:ENST00000595022:exon16:c.A1642T:p.S548C;ENSG00000134769:ENST00000444659:exon17:c.A1822T:p.S608C;ENSG00000134769:ENST00000283365:exon17:c.A1651T:p.S551C;ENSG00000134769:ENST00000399113:exon17:c.A1822T:p.S608C;ENSG00000134769:ENST00000556414:exon9:c.A778T:p.S260C;ENSG00000134769:ENST00000269190:exon20:c.A1825T:p.S609C;ENSG00000134769:ENST00000399121:exon17:c.A1663T:p.S555C;ENSG00000134769:ENST00000590831:exon1:c.A100T:p.S34C;ENSG00000134769:ENST00000269192:exon11:c.A949T:p.S317C;ENSG00000134769:ENST00000591182:exon9:c.A766T:p.S256C;ENSG00000134769:ENST00000598142:exon16:c.A1651T:p.S551C;ENSG00000134769:ENST00000601125:exon8:c.A688T:p.S230C;	0.798653086432682	0.752
18	32455363	G	A	18	34875399	y	y	splicing	DTNA(NM_032975:exon17:c.1651+1G>A;NM_001198940:exon16:c.1642+1G>A;NM_001198939:exon17:c.1663+1G>A;NM_001198938:exon16:c.1642+1G>A;NM_001390:exon17:c.1822+1G>A;NM_001198943:exon8:c.892+1G>A;NM_001198944:exon9:c.778+1G>A;NM_001198942:exon11:c.949+1G>A;NM_032980:exon9:c.766+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1651+1G>A;ENST00000598334:exon16:c.1642+1G>A;ENST00000399121:exon17:c.1663+1G>A;ENST00000399097:exon17:c.766+1G>A;ENST00000269190:exon20:c.1825+1G>A;ENST00000595022:exon16:c.1642+1G>A;ENST00000598142:exon16:c.1651+1G>A;ENST00000444659:exon17:c.1822+1G>A;ENST00000399113:exon17:c.1822+1G>A;ENST00000601125:exon8:c.688+1G>A;ENST00000269192:exon11:c.949+1G>A;ENST00000591182:exon9:c.766+1G>A;ENST00000556414:exon9:c.778+1G>A;ENST00000590831:exon1:c.100+1G>A)	.	.	0.999990361384395	0.938
18	32455363	G	C	18	34875399	y	y	splicing	DTNA(NM_032975:exon17:c.1651+1G>C;NM_001198940:exon16:c.1642+1G>C;NM_001198939:exon17:c.1663+1G>C;NM_001198938:exon16:c.1642+1G>C;NM_001390:exon17:c.1822+1G>C;NM_001198943:exon8:c.892+1G>C;NM_001198944:exon9:c.778+1G>C;NM_001198942:exon11:c.949+1G>C;NM_032980:exon9:c.766+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1651+1G>C;ENST00000598334:exon16:c.1642+1G>C;ENST00000399121:exon17:c.1663+1G>C;ENST00000399097:exon17:c.766+1G>C;ENST00000269190:exon20:c.1825+1G>C;ENST00000595022:exon16:c.1642+1G>C;ENST00000598142:exon16:c.1651+1G>C;ENST00000444659:exon17:c.1822+1G>C;ENST00000399113:exon17:c.1822+1G>C;ENST00000601125:exon8:c.688+1G>C;ENST00000269192:exon11:c.949+1G>C;ENST00000591182:exon9:c.766+1G>C;ENST00000556414:exon9:c.778+1G>C;ENST00000590831:exon1:c.100+1G>C)	.	.	0.999990361384395	0.938
18	32455363	G	T	18	34875399	y	y	splicing	DTNA(NM_032975:exon17:c.1651+1G>T;NM_001198940:exon16:c.1642+1G>T;NM_001198939:exon17:c.1663+1G>T;NM_001198938:exon16:c.1642+1G>T;NM_001390:exon17:c.1822+1G>T;NM_001198943:exon8:c.892+1G>T;NM_001198944:exon9:c.778+1G>T;NM_001198942:exon11:c.949+1G>T;NM_032980:exon9:c.766+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1651+1G>T;ENST00000598334:exon16:c.1642+1G>T;ENST00000399121:exon17:c.1663+1G>T;ENST00000399097:exon17:c.766+1G>T;ENST00000269190:exon20:c.1825+1G>T;ENST00000595022:exon16:c.1642+1G>T;ENST00000598142:exon16:c.1651+1G>T;ENST00000444659:exon17:c.1822+1G>T;ENST00000399113:exon17:c.1822+1G>T;ENST00000601125:exon8:c.688+1G>T;ENST00000269192:exon11:c.949+1G>T;ENST00000591182:exon9:c.766+1G>T;ENST00000556414:exon9:c.778+1G>T;ENST00000590831:exon1:c.100+1G>T)	.	.	0.999990361384395	0.938
18	32455364	T	A	18	34875400	y	y	splicing	DTNA(NM_032975:exon17:c.1651+2T>A;NM_001198940:exon16:c.1642+2T>A;NM_001198939:exon17:c.1663+2T>A;NM_001198938:exon16:c.1642+2T>A;NM_001390:exon17:c.1822+2T>A;NM_001198943:exon8:c.892+2T>A;NM_001198944:exon9:c.778+2T>A;NM_001198942:exon11:c.949+2T>A;NM_032980:exon9:c.766+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1651+2T>A;ENST00000598334:exon16:c.1642+2T>A;ENST00000399121:exon17:c.1663+2T>A;ENST00000399097:exon17:c.766+2T>A;ENST00000269190:exon20:c.1825+2T>A;ENST00000595022:exon16:c.1642+2T>A;ENST00000598142:exon16:c.1651+2T>A;ENST00000444659:exon17:c.1822+2T>A;ENST00000399113:exon17:c.1822+2T>A;ENST00000601125:exon8:c.688+2T>A;ENST00000269192:exon11:c.949+2T>A;ENST00000591182:exon9:c.766+2T>A;ENST00000556414:exon9:c.778+2T>A;ENST00000590831:exon1:c.100+2T>A)	.	.	0.999988247793601	0.932
18	32455364	T	C	18	34875400	y	y	splicing	DTNA(NM_032975:exon17:c.1651+2T>C;NM_001198940:exon16:c.1642+2T>C;NM_001198939:exon17:c.1663+2T>C;NM_001198938:exon16:c.1642+2T>C;NM_001390:exon17:c.1822+2T>C;NM_001198943:exon8:c.892+2T>C;NM_001198944:exon9:c.778+2T>C;NM_001198942:exon11:c.949+2T>C;NM_032980:exon9:c.766+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1651+2T>C;ENST00000598334:exon16:c.1642+2T>C;ENST00000399121:exon17:c.1663+2T>C;ENST00000399097:exon17:c.766+2T>C;ENST00000269190:exon20:c.1825+2T>C;ENST00000595022:exon16:c.1642+2T>C;ENST00000598142:exon16:c.1651+2T>C;ENST00000444659:exon17:c.1822+2T>C;ENST00000399113:exon17:c.1822+2T>C;ENST00000601125:exon8:c.688+2T>C;ENST00000269192:exon11:c.949+2T>C;ENST00000591182:exon9:c.766+2T>C;ENST00000556414:exon9:c.778+2T>C;ENST00000590831:exon1:c.100+2T>C)	.	.	0.99340600729494	0.72
18	32455364	T	G	18	34875400	y	y	splicing	DTNA(NM_032975:exon17:c.1651+2T>G;NM_001198940:exon16:c.1642+2T>G;NM_001198939:exon17:c.1663+2T>G;NM_001198938:exon16:c.1642+2T>G;NM_001390:exon17:c.1822+2T>G;NM_001198943:exon8:c.892+2T>G;NM_001198944:exon9:c.778+2T>G;NM_001198942:exon11:c.949+2T>G;NM_032980:exon9:c.766+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon17:c.1651+2T>G;ENST00000598334:exon16:c.1642+2T>G;ENST00000399121:exon17:c.1663+2T>G;ENST00000399097:exon17:c.766+2T>G;ENST00000269190:exon20:c.1825+2T>G;ENST00000595022:exon16:c.1642+2T>G;ENST00000598142:exon16:c.1651+2T>G;ENST00000444659:exon17:c.1822+2T>G;ENST00000399113:exon17:c.1822+2T>G;ENST00000601125:exon8:c.688+2T>G;ENST00000269192:exon11:c.949+2T>G;ENST00000591182:exon9:c.766+2T>G;ENST00000556414:exon9:c.778+2T>G;ENST00000590831:exon1:c.100+2T>G)	.	.	0.999988247793601	0.932
18	32455365	A	C	18	34875401	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999856336291026	0.958
18	32455365	A	G	18	34875401	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.870683188390893	0.488
18	32455365	A	T	18	34875401	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997276540629589	0.926
18	32455366	A	C	18	34875402	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999506642109506	0.928
18	32455366	A	G	18	34875402	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999341473377895	0.924
18	32455366	A	T	18	34875402	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999577664191904	0.872
18	32455367	G	A	18	34875403	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998936239562724	0.726
18	32455367	G	C	18	34875403	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999363135714047	0.886
18	32455367	G	T	18	34875403	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999857222373362	0.75
18	32455368	T	A	18	34875404	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.989614078287416	0.768
18	32455368	T	C	18	34875404	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.980467808626585	0.772
18	32455368	T	G	18	34875404	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.971125270367558	0.778
18	32455369	G	A	18	34875405	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.757172515428248	0.422
18	32455369	G	C	18	34875405	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0490070664565638	0.22
18	32455369	G	T	18	34875405	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.41592194540048	0.326
18	32455370	G	A	18	34875406	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.00685211095907E-5	0.002
18	32455370	G	C	18	34875406	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.65022250432764E-4	0.008
18	32455370	G	T	18	34875406	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.69604603554214E-4	0.022
18	32457671	T	A	18	34877707	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.822983294746863	0.54
18	32457671	T	C	18	34877707	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.175792475943982	0.334
18	32457671	T	G	18	34877707	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.509309717755903	0.454
18	32457672	C	A	18	34877708	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.923537838952738	0.606
18	32457672	C	G	18	34877708	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.788056129917183	0.59
18	32457672	C	T	18	34877708	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.919601519192512	0.622
18	32457673	T	A	18	34877709	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.301626949374324	0.542
18	32457673	T	C	18	34877709	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0197715417370343	0.36
18	32457673	T	G	18	34877709	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.182775329264483	0.45
18	32457674	T	A	18	34877710	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0216154403143527	0.248
18	32457674	T	C	18	34877710	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00249517242281677	0.024
18	32457674	T	G	18	34877710	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0768662238654847	0.212
18	32457675	C	A	18	34877711	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00377150928501254	0.036
18	32457675	C	G	18	34877711	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00139527711860716	0.03
18	32457675	C	T	18	34877711	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.27284689537971E-5	0.0
18	32457676	C	A	18	34877712	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.16725652791065E-4	0.076
18	32457676	C	G	18	34877712	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.69723545363733E-4	0.082
18	32457676	C	T	18	34877712	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.59793323597462E-5	0.0
18	32457677	C	A	18	34877713	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00210631967314919	0.2
18	32457677	C	G	18	34877713	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0024807577517586	0.168
18	32457677	C	T	18	34877713	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.87177633272988E-4	0.008
18	32457678	T	A	18	34877714	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99986100456449	0.898
18	32457678	T	C	18	34877714	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.33101284326169E-4	0.014
18	32457678	T	G	18	34877714	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00571439691942507	0.118
18	32457679	G	A	18	34877715	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.85356220986668E-5	0.0
18	32457679	G	C	18	34877715	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.47848558888442E-5	0.0
18	32457679	G	T	18	34877715	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.17340461970751E-5	0.0
18	32457680	A	C	18	34877716	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.00233355918981E-4	0.078
18	32457680	A	G	18	34877716	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.51287040981765	0.318
18	32457680	A	T	18	34877716	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.56889844128211E-4	0.02
18	32457681	A	C	18	34877717	y	y	splicing	DTNA(NM_032975:exon18:c.1652-2A>C;NM_001198940:exon17:c.1643-2A>C;NM_001198939:exon18:c.1664-2A>C;NM_001198938:exon17:c.1643-2A>C;NM_001390:exon18:c.1823-2A>C;NM_001198943:exon9:c.893-2A>C;NM_001198944:exon10:c.779-2A>C;NM_001198942:exon12:c.950-2A>C;NM_032980:exon10:c.767-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1652-2A>C;ENST00000598334:exon17:c.1643-2A>C;ENST00000399121:exon18:c.1664-2A>C;ENST00000399097:exon18:c.767-2A>C;ENST00000269190:exon21:c.1826-2A>C;ENST00000595022:exon17:c.1643-2A>C;ENST00000598142:exon17:c.1652-2A>C;ENST00000444659:exon18:c.1823-2A>C;ENST00000399113:exon18:c.1823-2A>C;ENST00000601125:exon9:c.689-2A>C;ENST00000269192:exon12:c.950-2A>C;ENST00000591182:exon10:c.767-2A>C;ENST00000556414:exon10:c.779-2A>C;ENST00000590831:exon2:c.101-2A>C)	.	.	0.999988247793601	0.928
18	32457681	A	G	18	34877717	y	y	splicing	DTNA(NM_032975:exon18:c.1652-2A>G;NM_001198940:exon17:c.1643-2A>G;NM_001198939:exon18:c.1664-2A>G;NM_001198938:exon17:c.1643-2A>G;NM_001390:exon18:c.1823-2A>G;NM_001198943:exon9:c.893-2A>G;NM_001198944:exon10:c.779-2A>G;NM_001198942:exon12:c.950-2A>G;NM_032980:exon10:c.767-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1652-2A>G;ENST00000598334:exon17:c.1643-2A>G;ENST00000399121:exon18:c.1664-2A>G;ENST00000399097:exon18:c.767-2A>G;ENST00000269190:exon21:c.1826-2A>G;ENST00000595022:exon17:c.1643-2A>G;ENST00000598142:exon17:c.1652-2A>G;ENST00000444659:exon18:c.1823-2A>G;ENST00000399113:exon18:c.1823-2A>G;ENST00000601125:exon9:c.689-2A>G;ENST00000269192:exon12:c.950-2A>G;ENST00000591182:exon10:c.767-2A>G;ENST00000556414:exon10:c.779-2A>G;ENST00000590831:exon2:c.101-2A>G)	.	.	0.999988247793601	0.928
18	32457681	A	T	18	34877717	y	y	splicing	DTNA(NM_032975:exon18:c.1652-2A>T;NM_001198940:exon17:c.1643-2A>T;NM_001198939:exon18:c.1664-2A>T;NM_001198938:exon17:c.1643-2A>T;NM_001390:exon18:c.1823-2A>T;NM_001198943:exon9:c.893-2A>T;NM_001198944:exon10:c.779-2A>T;NM_001198942:exon12:c.950-2A>T;NM_032980:exon10:c.767-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1652-2A>T;ENST00000598334:exon17:c.1643-2A>T;ENST00000399121:exon18:c.1664-2A>T;ENST00000399097:exon18:c.767-2A>T;ENST00000269190:exon21:c.1826-2A>T;ENST00000595022:exon17:c.1643-2A>T;ENST00000598142:exon17:c.1652-2A>T;ENST00000444659:exon18:c.1823-2A>T;ENST00000399113:exon18:c.1823-2A>T;ENST00000601125:exon9:c.689-2A>T;ENST00000269192:exon12:c.950-2A>T;ENST00000591182:exon10:c.767-2A>T;ENST00000556414:exon10:c.779-2A>T;ENST00000590831:exon2:c.101-2A>T)	.	.	0.999988247793601	0.928
18	32457682	G	A	18	34877718	y	y	splicing	DTNA(NM_032975:exon18:c.1652-1G>A;NM_001198940:exon17:c.1643-1G>A;NM_001198939:exon18:c.1664-1G>A;NM_001198938:exon17:c.1643-1G>A;NM_001390:exon18:c.1823-1G>A;NM_001198943:exon9:c.893-1G>A;NM_001198944:exon10:c.779-1G>A;NM_001198942:exon12:c.950-1G>A;NM_032980:exon10:c.767-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1652-1G>A;ENST00000598334:exon17:c.1643-1G>A;ENST00000399121:exon18:c.1664-1G>A;ENST00000399097:exon18:c.767-1G>A;ENST00000269190:exon21:c.1826-1G>A;ENST00000595022:exon17:c.1643-1G>A;ENST00000598142:exon17:c.1652-1G>A;ENST00000444659:exon18:c.1823-1G>A;ENST00000399113:exon18:c.1823-1G>A;ENST00000601125:exon9:c.689-1G>A;ENST00000269192:exon12:c.950-1G>A;ENST00000591182:exon10:c.767-1G>A;ENST00000556414:exon10:c.779-1G>A;ENST00000590831:exon2:c.101-1G>A)	.	.	0.999986675681007	0.932
18	32457682	G	C	18	34877718	y	y	splicing	DTNA(NM_032975:exon18:c.1652-1G>C;NM_001198940:exon17:c.1643-1G>C;NM_001198939:exon18:c.1664-1G>C;NM_001198938:exon17:c.1643-1G>C;NM_001390:exon18:c.1823-1G>C;NM_001198943:exon9:c.893-1G>C;NM_001198944:exon10:c.779-1G>C;NM_001198942:exon12:c.950-1G>C;NM_032980:exon10:c.767-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1652-1G>C;ENST00000598334:exon17:c.1643-1G>C;ENST00000399121:exon18:c.1664-1G>C;ENST00000399097:exon18:c.767-1G>C;ENST00000269190:exon21:c.1826-1G>C;ENST00000595022:exon17:c.1643-1G>C;ENST00000598142:exon17:c.1652-1G>C;ENST00000444659:exon18:c.1823-1G>C;ENST00000399113:exon18:c.1823-1G>C;ENST00000601125:exon9:c.689-1G>C;ENST00000269192:exon12:c.950-1G>C;ENST00000591182:exon10:c.767-1G>C;ENST00000556414:exon10:c.779-1G>C;ENST00000590831:exon2:c.101-1G>C)	.	.	0.999986675681007	0.932
18	32457682	G	T	18	34877718	y	y	splicing	DTNA(NM_032975:exon18:c.1652-1G>T;NM_001198940:exon17:c.1643-1G>T;NM_001198939:exon18:c.1664-1G>T;NM_001198938:exon17:c.1643-1G>T;NM_001390:exon18:c.1823-1G>T;NM_001198943:exon9:c.893-1G>T;NM_001198944:exon10:c.779-1G>T;NM_001198942:exon12:c.950-1G>T;NM_032980:exon10:c.767-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1652-1G>T;ENST00000598334:exon17:c.1643-1G>T;ENST00000399121:exon18:c.1664-1G>T;ENST00000399097:exon18:c.767-1G>T;ENST00000269190:exon21:c.1826-1G>T;ENST00000595022:exon17:c.1643-1G>T;ENST00000598142:exon17:c.1652-1G>T;ENST00000444659:exon18:c.1823-1G>T;ENST00000399113:exon18:c.1823-1G>T;ENST00000601125:exon9:c.689-1G>T;ENST00000269192:exon12:c.950-1G>T;ENST00000591182:exon10:c.767-1G>T;ENST00000556414:exon10:c.779-1G>T;ENST00000590831:exon2:c.101-1G>T)	.	.	0.999986675681007	0.932
18	32457683	G	A	18	34877719	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.G1823A:p.S608N;DTNA:NM_001198938:exon17:c.G1643A:p.S548N;DTNA:NM_001198943:exon9:c.G893A:p.S298N;DTNA:NM_001198942:exon12:c.G950A:p.S317N;DTNA:NM_001198944:exon10:c.G779A:p.S260N;DTNA:NM_001198940:exon17:c.G1643A:p.S548N;DTNA:NM_001198939:exon18:c.G1664A:p.S555N;DTNA:NM_032980:exon10:c.G767A:p.S256N;DTNA:NM_032975:exon18:c.G1652A:p.S551N;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.G767A:p.S256N;ENSG00000134769:ENST00000598334:exon17:c.G1643A:p.S548N;ENSG00000134769:ENST00000595022:exon17:c.G1643A:p.S548N;ENSG00000134769:ENST00000444659:exon18:c.G1823A:p.S608N;ENSG00000134769:ENST00000283365:exon18:c.G1652A:p.S551N;ENSG00000134769:ENST00000399113:exon18:c.G1823A:p.S608N;ENSG00000134769:ENST00000556414:exon10:c.G779A:p.S260N;ENSG00000134769:ENST00000269190:exon21:c.G1826A:p.S609N;ENSG00000134769:ENST00000399121:exon18:c.G1664A:p.S555N;ENSG00000134769:ENST00000590831:exon2:c.G101A:p.S34N;ENSG00000134769:ENST00000269192:exon12:c.G950A:p.S317N;ENSG00000134769:ENST00000591182:exon10:c.G767A:p.S256N;ENSG00000134769:ENST00000598142:exon17:c.G1652A:p.S551N;ENSG00000134769:ENST00000601125:exon9:c.G689A:p.S230N;	0.999133033231386	0.942
18	32457683	G	C	18	34877719	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.G1823C:p.S608T;DTNA:NM_001198938:exon17:c.G1643C:p.S548T;DTNA:NM_001198943:exon9:c.G893C:p.S298T;DTNA:NM_001198942:exon12:c.G950C:p.S317T;DTNA:NM_001198944:exon10:c.G779C:p.S260T;DTNA:NM_001198940:exon17:c.G1643C:p.S548T;DTNA:NM_001198939:exon18:c.G1664C:p.S555T;DTNA:NM_032980:exon10:c.G767C:p.S256T;DTNA:NM_032975:exon18:c.G1652C:p.S551T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.G767C:p.S256T;ENSG00000134769:ENST00000598334:exon17:c.G1643C:p.S548T;ENSG00000134769:ENST00000595022:exon17:c.G1643C:p.S548T;ENSG00000134769:ENST00000444659:exon18:c.G1823C:p.S608T;ENSG00000134769:ENST00000283365:exon18:c.G1652C:p.S551T;ENSG00000134769:ENST00000399113:exon18:c.G1823C:p.S608T;ENSG00000134769:ENST00000556414:exon10:c.G779C:p.S260T;ENSG00000134769:ENST00000269190:exon21:c.G1826C:p.S609T;ENSG00000134769:ENST00000399121:exon18:c.G1664C:p.S555T;ENSG00000134769:ENST00000590831:exon2:c.G101C:p.S34T;ENSG00000134769:ENST00000269192:exon12:c.G950C:p.S317T;ENSG00000134769:ENST00000591182:exon10:c.G767C:p.S256T;ENSG00000134769:ENST00000598142:exon17:c.G1652C:p.S551T;ENSG00000134769:ENST00000601125:exon9:c.G689C:p.S230T;	0.99920121969334	0.968
18	32457683	G	T	18	34877719	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.G1823T:p.S608I;DTNA:NM_001198938:exon17:c.G1643T:p.S548I;DTNA:NM_001198943:exon9:c.G893T:p.S298I;DTNA:NM_001198942:exon12:c.G950T:p.S317I;DTNA:NM_001198944:exon10:c.G779T:p.S260I;DTNA:NM_001198940:exon17:c.G1643T:p.S548I;DTNA:NM_001198939:exon18:c.G1664T:p.S555I;DTNA:NM_032980:exon10:c.G767T:p.S256I;DTNA:NM_032975:exon18:c.G1652T:p.S551I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.G767T:p.S256I;ENSG00000134769:ENST00000598334:exon17:c.G1643T:p.S548I;ENSG00000134769:ENST00000595022:exon17:c.G1643T:p.S548I;ENSG00000134769:ENST00000444659:exon18:c.G1823T:p.S608I;ENSG00000134769:ENST00000283365:exon18:c.G1652T:p.S551I;ENSG00000134769:ENST00000399113:exon18:c.G1823T:p.S608I;ENSG00000134769:ENST00000556414:exon10:c.G779T:p.S260I;ENSG00000134769:ENST00000269190:exon21:c.G1826T:p.S609I;ENSG00000134769:ENST00000399121:exon18:c.G1664T:p.S555I;ENSG00000134769:ENST00000590831:exon2:c.G101T:p.S34I;ENSG00000134769:ENST00000269192:exon12:c.G950T:p.S317I;ENSG00000134769:ENST00000591182:exon10:c.G767T:p.S256I;ENSG00000134769:ENST00000598142:exon17:c.G1652T:p.S551I;ENSG00000134769:ENST00000601125:exon9:c.G689T:p.S230I;	0.999679451085022	0.984
18	32457684	T	A	18	34877720	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.T1824A:p.S608R;DTNA:NM_001198938:exon17:c.T1644A:p.S548R;DTNA:NM_001198943:exon9:c.T894A:p.S298R;DTNA:NM_001198942:exon12:c.T951A:p.S317R;DTNA:NM_001198944:exon10:c.T780A:p.S260R;DTNA:NM_001198940:exon17:c.T1644A:p.S548R;DTNA:NM_001198939:exon18:c.T1665A:p.S555R;DTNA:NM_032980:exon10:c.T768A:p.S256R;DTNA:NM_032975:exon18:c.T1653A:p.S551R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.T768A:p.S256R;ENSG00000134769:ENST00000598334:exon17:c.T1644A:p.S548R;ENSG00000134769:ENST00000595022:exon17:c.T1644A:p.S548R;ENSG00000134769:ENST00000444659:exon18:c.T1824A:p.S608R;ENSG00000134769:ENST00000283365:exon18:c.T1653A:p.S551R;ENSG00000134769:ENST00000399113:exon18:c.T1824A:p.S608R;ENSG00000134769:ENST00000556414:exon10:c.T780A:p.S260R;ENSG00000134769:ENST00000269190:exon21:c.T1827A:p.S609R;ENSG00000134769:ENST00000399121:exon18:c.T1665A:p.S555R;ENSG00000134769:ENST00000590831:exon2:c.T102A:p.S34R;ENSG00000134769:ENST00000269192:exon12:c.T951A:p.S317R;ENSG00000134769:ENST00000591182:exon10:c.T768A:p.S256R;ENSG00000134769:ENST00000598142:exon17:c.T1653A:p.S551R;ENSG00000134769:ENST00000601125:exon9:c.T690A:p.S230R;	7.33474438453836E-6	0.07
18	32457684	T	C	18	34877720	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001390:exon18:c.T1824C:p.S608S;DTNA:NM_001198938:exon17:c.T1644C:p.S548S;DTNA:NM_001198943:exon9:c.T894C:p.S298S;DTNA:NM_001198942:exon12:c.T951C:p.S317S;DTNA:NM_001198944:exon10:c.T780C:p.S260S;DTNA:NM_001198940:exon17:c.T1644C:p.S548S;DTNA:NM_001198939:exon18:c.T1665C:p.S555S;DTNA:NM_032980:exon10:c.T768C:p.S256S;DTNA:NM_032975:exon18:c.T1653C:p.S551S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.T768C:p.S256S;ENSG00000134769:ENST00000598334:exon17:c.T1644C:p.S548S;ENSG00000134769:ENST00000595022:exon17:c.T1644C:p.S548S;ENSG00000134769:ENST00000444659:exon18:c.T1824C:p.S608S;ENSG00000134769:ENST00000283365:exon18:c.T1653C:p.S551S;ENSG00000134769:ENST00000399113:exon18:c.T1824C:p.S608S;ENSG00000134769:ENST00000556414:exon10:c.T780C:p.S260S;ENSG00000134769:ENST00000269190:exon21:c.T1827C:p.S609S;ENSG00000134769:ENST00000399121:exon18:c.T1665C:p.S555S;ENSG00000134769:ENST00000590831:exon2:c.T102C:p.S34S;ENSG00000134769:ENST00000269192:exon12:c.T951C:p.S317S;ENSG00000134769:ENST00000591182:exon10:c.T768C:p.S256S;ENSG00000134769:ENST00000598142:exon17:c.T1653C:p.S551S;ENSG00000134769:ENST00000601125:exon9:c.T690C:p.S230S;	5.41388769185845E-4	0.03
18	32457684	T	G	18	34877720	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.T1824G:p.S608R;DTNA:NM_001198938:exon17:c.T1644G:p.S548R;DTNA:NM_001198943:exon9:c.T894G:p.S298R;DTNA:NM_001198942:exon12:c.T951G:p.S317R;DTNA:NM_001198944:exon10:c.T780G:p.S260R;DTNA:NM_001198940:exon17:c.T1644G:p.S548R;DTNA:NM_001198939:exon18:c.T1665G:p.S555R;DTNA:NM_032980:exon10:c.T768G:p.S256R;DTNA:NM_032975:exon18:c.T1653G:p.S551R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.T768G:p.S256R;ENSG00000134769:ENST00000598334:exon17:c.T1644G:p.S548R;ENSG00000134769:ENST00000595022:exon17:c.T1644G:p.S548R;ENSG00000134769:ENST00000444659:exon18:c.T1824G:p.S608R;ENSG00000134769:ENST00000283365:exon18:c.T1653G:p.S551R;ENSG00000134769:ENST00000399113:exon18:c.T1824G:p.S608R;ENSG00000134769:ENST00000556414:exon10:c.T780G:p.S260R;ENSG00000134769:ENST00000269190:exon21:c.T1827G:p.S609R;ENSG00000134769:ENST00000399121:exon18:c.T1665G:p.S555R;ENSG00000134769:ENST00000590831:exon2:c.T102G:p.S34R;ENSG00000134769:ENST00000269192:exon12:c.T951G:p.S317R;ENSG00000134769:ENST00000591182:exon10:c.T768G:p.S256R;ENSG00000134769:ENST00000598142:exon17:c.T1653G:p.S551R;ENSG00000134769:ENST00000601125:exon9:c.T690G:p.S230R;	8.2080561568929E-6	0.066
18	32457770	C	A	18	34877806	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.C1910A:p.S637Y;DTNA:NM_001198938:exon17:c.C1730A:p.S577Y;DTNA:NM_001198943:exon9:c.C980A:p.S327Y;DTNA:NM_001198942:exon12:c.C1037A:p.S346Y;DTNA:NM_001198944:exon10:c.C866A:p.S289Y;DTNA:NM_001198940:exon17:c.C1730A:p.S577Y;DTNA:NM_001198939:exon18:c.C1751A:p.S584Y;DTNA:NM_032980:exon10:c.C854A:p.S285Y;DTNA:NM_032975:exon18:c.C1739A:p.S580Y;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.C854A:p.S285Y;ENSG00000134769:ENST00000598334:exon17:c.C1730A:p.S577Y;ENSG00000134769:ENST00000595022:exon17:c.C1730A:p.S577Y;ENSG00000134769:ENST00000444659:exon18:c.C1910A:p.S637Y;ENSG00000134769:ENST00000283365:exon18:c.C1739A:p.S580Y;ENSG00000134769:ENST00000399113:exon18:c.C1910A:p.S637Y;ENSG00000134769:ENST00000556414:exon10:c.C866A:p.S289Y;ENSG00000134769:ENST00000269190:exon21:c.C1913A:p.S638Y;ENSG00000134769:ENST00000399121:exon18:c.C1751A:p.S584Y;ENSG00000134769:ENST00000590831:exon2:c.C188A:p.S63Y;ENSG00000134769:ENST00000269192:exon12:c.C1037A:p.S346Y;ENSG00000134769:ENST00000591182:exon10:c.C854A:p.S285Y;ENSG00000134769:ENST00000598142:exon17:c.C1739A:p.S580Y;ENSG00000134769:ENST00000601125:exon9:c.C776A:p.S259Y;	0.952046431358764	0.82
18	32457770	C	G	18	34877806	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.C1910G:p.S637C;DTNA:NM_001198938:exon17:c.C1730G:p.S577C;DTNA:NM_001198943:exon9:c.C980G:p.S327C;DTNA:NM_001198942:exon12:c.C1037G:p.S346C;DTNA:NM_001198944:exon10:c.C866G:p.S289C;DTNA:NM_001198940:exon17:c.C1730G:p.S577C;DTNA:NM_001198939:exon18:c.C1751G:p.S584C;DTNA:NM_032980:exon10:c.C854G:p.S285C;DTNA:NM_032975:exon18:c.C1739G:p.S580C;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.C854G:p.S285C;ENSG00000134769:ENST00000598334:exon17:c.C1730G:p.S577C;ENSG00000134769:ENST00000595022:exon17:c.C1730G:p.S577C;ENSG00000134769:ENST00000444659:exon18:c.C1910G:p.S637C;ENSG00000134769:ENST00000283365:exon18:c.C1739G:p.S580C;ENSG00000134769:ENST00000399113:exon18:c.C1910G:p.S637C;ENSG00000134769:ENST00000556414:exon10:c.C866G:p.S289C;ENSG00000134769:ENST00000269190:exon21:c.C1913G:p.S638C;ENSG00000134769:ENST00000399121:exon18:c.C1751G:p.S584C;ENSG00000134769:ENST00000590831:exon2:c.C188G:p.S63C;ENSG00000134769:ENST00000269192:exon12:c.C1037G:p.S346C;ENSG00000134769:ENST00000591182:exon10:c.C854G:p.S285C;ENSG00000134769:ENST00000598142:exon17:c.C1739G:p.S580C;ENSG00000134769:ENST00000601125:exon9:c.C776G:p.S259C;	0.877841686358957	0.612
18	32457770	C	T	18	34877806	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.C1910T:p.S637F;DTNA:NM_001198938:exon17:c.C1730T:p.S577F;DTNA:NM_001198943:exon9:c.C980T:p.S327F;DTNA:NM_001198942:exon12:c.C1037T:p.S346F;DTNA:NM_001198944:exon10:c.C866T:p.S289F;DTNA:NM_001198940:exon17:c.C1730T:p.S577F;DTNA:NM_001198939:exon18:c.C1751T:p.S584F;DTNA:NM_032980:exon10:c.C854T:p.S285F;DTNA:NM_032975:exon18:c.C1739T:p.S580F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.C854T:p.S285F;ENSG00000134769:ENST00000598334:exon17:c.C1730T:p.S577F;ENSG00000134769:ENST00000595022:exon17:c.C1730T:p.S577F;ENSG00000134769:ENST00000444659:exon18:c.C1910T:p.S637F;ENSG00000134769:ENST00000283365:exon18:c.C1739T:p.S580F;ENSG00000134769:ENST00000399113:exon18:c.C1910T:p.S637F;ENSG00000134769:ENST00000556414:exon10:c.C866T:p.S289F;ENSG00000134769:ENST00000269190:exon21:c.C1913T:p.S638F;ENSG00000134769:ENST00000399121:exon18:c.C1751T:p.S584F;ENSG00000134769:ENST00000590831:exon2:c.C188T:p.S63F;ENSG00000134769:ENST00000269192:exon12:c.C1037T:p.S346F;ENSG00000134769:ENST00000591182:exon10:c.C854T:p.S285F;ENSG00000134769:ENST00000598142:exon17:c.C1739T:p.S580F;ENSG00000134769:ENST00000601125:exon9:c.C776T:p.S259F;	0.994775099478532	0.726
18	32457771	T	A	18	34877807	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001390:exon18:c.T1911A:p.S637S;DTNA:NM_001198938:exon17:c.T1731A:p.S577S;DTNA:NM_001198943:exon9:c.T981A:p.S327S;DTNA:NM_001198942:exon12:c.T1038A:p.S346S;DTNA:NM_001198944:exon10:c.T867A:p.S289S;DTNA:NM_001198940:exon17:c.T1731A:p.S577S;DTNA:NM_001198939:exon18:c.T1752A:p.S584S;DTNA:NM_032980:exon10:c.T855A:p.S285S;DTNA:NM_032975:exon18:c.T1740A:p.S580S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.T855A:p.S285S;ENSG00000134769:ENST00000598334:exon17:c.T1731A:p.S577S;ENSG00000134769:ENST00000595022:exon17:c.T1731A:p.S577S;ENSG00000134769:ENST00000444659:exon18:c.T1911A:p.S637S;ENSG00000134769:ENST00000283365:exon18:c.T1740A:p.S580S;ENSG00000134769:ENST00000399113:exon18:c.T1911A:p.S637S;ENSG00000134769:ENST00000556414:exon10:c.T867A:p.S289S;ENSG00000134769:ENST00000269190:exon21:c.T1914A:p.S638S;ENSG00000134769:ENST00000399121:exon18:c.T1752A:p.S584S;ENSG00000134769:ENST00000590831:exon2:c.T189A:p.S63S;ENSG00000134769:ENST00000269192:exon12:c.T1038A:p.S346S;ENSG00000134769:ENST00000591182:exon10:c.T855A:p.S285S;ENSG00000134769:ENST00000598142:exon17:c.T1740A:p.S580S;ENSG00000134769:ENST00000601125:exon9:c.T777A:p.S259S;	1.61874564357005E-4	0.136
18	32457771	T	C	18	34877807	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001390:exon18:c.T1911C:p.S637S;DTNA:NM_001198938:exon17:c.T1731C:p.S577S;DTNA:NM_001198943:exon9:c.T981C:p.S327S;DTNA:NM_001198942:exon12:c.T1038C:p.S346S;DTNA:NM_001198944:exon10:c.T867C:p.S289S;DTNA:NM_001198940:exon17:c.T1731C:p.S577S;DTNA:NM_001198939:exon18:c.T1752C:p.S584S;DTNA:NM_032980:exon10:c.T855C:p.S285S;DTNA:NM_032975:exon18:c.T1740C:p.S580S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.T855C:p.S285S;ENSG00000134769:ENST00000598334:exon17:c.T1731C:p.S577S;ENSG00000134769:ENST00000595022:exon17:c.T1731C:p.S577S;ENSG00000134769:ENST00000444659:exon18:c.T1911C:p.S637S;ENSG00000134769:ENST00000283365:exon18:c.T1740C:p.S580S;ENSG00000134769:ENST00000399113:exon18:c.T1911C:p.S637S;ENSG00000134769:ENST00000556414:exon10:c.T867C:p.S289S;ENSG00000134769:ENST00000269190:exon21:c.T1914C:p.S638S;ENSG00000134769:ENST00000399121:exon18:c.T1752C:p.S584S;ENSG00000134769:ENST00000590831:exon2:c.T189C:p.S63S;ENSG00000134769:ENST00000269192:exon12:c.T1038C:p.S346S;ENSG00000134769:ENST00000591182:exon10:c.T855C:p.S285S;ENSG00000134769:ENST00000598142:exon17:c.T1740C:p.S580S;ENSG00000134769:ENST00000601125:exon9:c.T777C:p.S259S;	1.24285963740906E-4	0.01
18	32457771	T	G	18	34877807	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001390:exon18:c.T1911G:p.S637S;DTNA:NM_001198938:exon17:c.T1731G:p.S577S;DTNA:NM_001198943:exon9:c.T981G:p.S327S;DTNA:NM_001198942:exon12:c.T1038G:p.S346S;DTNA:NM_001198944:exon10:c.T867G:p.S289S;DTNA:NM_001198940:exon17:c.T1731G:p.S577S;DTNA:NM_001198939:exon18:c.T1752G:p.S584S;DTNA:NM_032980:exon10:c.T855G:p.S285S;DTNA:NM_032975:exon18:c.T1740G:p.S580S;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.T855G:p.S285S;ENSG00000134769:ENST00000598334:exon17:c.T1731G:p.S577S;ENSG00000134769:ENST00000595022:exon17:c.T1731G:p.S577S;ENSG00000134769:ENST00000444659:exon18:c.T1911G:p.S637S;ENSG00000134769:ENST00000283365:exon18:c.T1740G:p.S580S;ENSG00000134769:ENST00000399113:exon18:c.T1911G:p.S637S;ENSG00000134769:ENST00000556414:exon10:c.T867G:p.S289S;ENSG00000134769:ENST00000269190:exon21:c.T1914G:p.S638S;ENSG00000134769:ENST00000399121:exon18:c.T1752G:p.S584S;ENSG00000134769:ENST00000590831:exon2:c.T189G:p.S63S;ENSG00000134769:ENST00000269192:exon12:c.T1038G:p.S346S;ENSG00000134769:ENST00000591182:exon10:c.T855G:p.S285S;ENSG00000134769:ENST00000598142:exon17:c.T1740G:p.S580S;ENSG00000134769:ENST00000601125:exon9:c.T777G:p.S259S;	2.35410282986029E-4	0.01
18	32457772	G	A	18	34877808	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.G1912A:p.E638K;DTNA:NM_001198938:exon17:c.G1732A:p.E578K;DTNA:NM_001198943:exon9:c.G982A:p.E328K;DTNA:NM_001198942:exon12:c.G1039A:p.E347K;DTNA:NM_001198944:exon10:c.G868A:p.E290K;DTNA:NM_001198940:exon17:c.G1732A:p.E578K;DTNA:NM_001198939:exon18:c.G1753A:p.E585K;DTNA:NM_032980:exon10:c.G856A:p.E286K;DTNA:NM_032975:exon18:c.G1741A:p.E581K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.G856A:p.E286K;ENSG00000134769:ENST00000598334:exon17:c.G1732A:p.E578K;ENSG00000134769:ENST00000595022:exon17:c.G1732A:p.E578K;ENSG00000134769:ENST00000444659:exon18:c.G1912A:p.E638K;ENSG00000134769:ENST00000283365:exon18:c.G1741A:p.E581K;ENSG00000134769:ENST00000399113:exon18:c.G1912A:p.E638K;ENSG00000134769:ENST00000556414:exon10:c.G868A:p.E290K;ENSG00000134769:ENST00000269190:exon21:c.G1915A:p.E639K;ENSG00000134769:ENST00000399121:exon18:c.G1753A:p.E585K;ENSG00000134769:ENST00000590831:exon2:c.G190A:p.E64K;ENSG00000134769:ENST00000269192:exon12:c.G1039A:p.E347K;ENSG00000134769:ENST00000591182:exon10:c.G856A:p.E286K;ENSG00000134769:ENST00000598142:exon17:c.G1741A:p.E581K;ENSG00000134769:ENST00000601125:exon9:c.G778A:p.E260K;	0.999936122541221	0.988
18	32457772	G	C	18	34877808	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon18:c.G1912C:p.E638Q;DTNA:NM_001198938:exon17:c.G1732C:p.E578Q;DTNA:NM_001198943:exon9:c.G982C:p.E328Q;DTNA:NM_001198942:exon12:c.G1039C:p.E347Q;DTNA:NM_001198944:exon10:c.G868C:p.E290Q;DTNA:NM_001198940:exon17:c.G1732C:p.E578Q;DTNA:NM_001198939:exon18:c.G1753C:p.E585Q;DTNA:NM_032980:exon10:c.G856C:p.E286Q;DTNA:NM_032975:exon18:c.G1741C:p.E581Q;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon18:c.G856C:p.E286Q;ENSG00000134769:ENST00000598334:exon17:c.G1732C:p.E578Q;ENSG00000134769:ENST00000595022:exon17:c.G1732C:p.E578Q;ENSG00000134769:ENST00000444659:exon18:c.G1912C:p.E638Q;ENSG00000134769:ENST00000283365:exon18:c.G1741C:p.E581Q;ENSG00000134769:ENST00000399113:exon18:c.G1912C:p.E638Q;ENSG00000134769:ENST00000556414:exon10:c.G868C:p.E290Q;ENSG00000134769:ENST00000269190:exon21:c.G1915C:p.E639Q;ENSG00000134769:ENST00000399121:exon18:c.G1753C:p.E585Q;ENSG00000134769:ENST00000590831:exon2:c.G190C:p.E64Q;ENSG00000134769:ENST00000269192:exon12:c.G1039C:p.E347Q;ENSG00000134769:ENST00000591182:exon10:c.G856C:p.E286Q;ENSG00000134769:ENST00000598142:exon17:c.G1741C:p.E581Q;ENSG00000134769:ENST00000601125:exon9:c.G778C:p.E260Q;	0.999974135426941	0.98
18	32457772	G	T	18	34877808	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_001390:exon18:c.G1912T:p.E638X;DTNA:NM_001198938:exon17:c.G1732T:p.E578X;DTNA:NM_001198943:exon9:c.G982T:p.E328X;DTNA:NM_001198942:exon12:c.G1039T:p.E347X;DTNA:NM_001198944:exon10:c.G868T:p.E290X;DTNA:NM_001198940:exon17:c.G1732T:p.E578X;DTNA:NM_001198939:exon18:c.G1753T:p.E585X;DTNA:NM_032980:exon10:c.G856T:p.E286X;DTNA:NM_032975:exon18:c.G1741T:p.E581X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000399097:exon18:c.G856T:p.E286X;ENSG00000134769:ENST00000598334:exon17:c.G1732T:p.E578X;ENSG00000134769:ENST00000595022:exon17:c.G1732T:p.E578X;ENSG00000134769:ENST00000444659:exon18:c.G1912T:p.E638X;ENSG00000134769:ENST00000283365:exon18:c.G1741T:p.E581X;ENSG00000134769:ENST00000399113:exon18:c.G1912T:p.E638X;ENSG00000134769:ENST00000556414:exon10:c.G868T:p.E290X;ENSG00000134769:ENST00000269190:exon21:c.G1915T:p.E639X;ENSG00000134769:ENST00000399121:exon18:c.G1753T:p.E585X;ENSG00000134769:ENST00000590831:exon2:c.G190T:p.E64X;ENSG00000134769:ENST00000269192:exon12:c.G1039T:p.E347X;ENSG00000134769:ENST00000591182:exon10:c.G856T:p.E286X;ENSG00000134769:ENST00000598142:exon17:c.G1741T:p.E581X;ENSG00000134769:ENST00000601125:exon9:c.G778T:p.E260X;	0.999799951720819	0.886
18	32457773	G	A	18	34877809	y	y	splicing	DTNA(NM_032975:exon18:c.1741+1G>A;NM_001198940:exon17:c.1732+1G>A;NM_001198939:exon18:c.1753+1G>A;NM_001198938:exon17:c.1732+1G>A;NM_001390:exon18:c.1912+1G>A;NM_001198943:exon9:c.982+1G>A;NM_001198944:exon10:c.868+1G>A;NM_001198942:exon12:c.1039+1G>A;NM_032980:exon10:c.856+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1741+1G>A;ENST00000598334:exon17:c.1732+1G>A;ENST00000399121:exon18:c.1753+1G>A;ENST00000399097:exon18:c.856+1G>A;ENST00000269190:exon21:c.1915+1G>A;ENST00000595022:exon17:c.1732+1G>A;ENST00000598142:exon17:c.1741+1G>A;ENST00000444659:exon18:c.1912+1G>A;ENST00000399113:exon18:c.1912+1G>A;ENST00000601125:exon9:c.778+1G>A;ENST00000269192:exon12:c.1039+1G>A;ENST00000591182:exon10:c.856+1G>A;ENST00000556414:exon10:c.868+1G>A;ENST00000590831:exon2:c.190+1G>A)	.	.	0.999986675681007	0.932
18	32457773	G	C	18	34877809	y	y	splicing	DTNA(NM_032975:exon18:c.1741+1G>C;NM_001198940:exon17:c.1732+1G>C;NM_001198939:exon18:c.1753+1G>C;NM_001198938:exon17:c.1732+1G>C;NM_001390:exon18:c.1912+1G>C;NM_001198943:exon9:c.982+1G>C;NM_001198944:exon10:c.868+1G>C;NM_001198942:exon12:c.1039+1G>C;NM_032980:exon10:c.856+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1741+1G>C;ENST00000598334:exon17:c.1732+1G>C;ENST00000399121:exon18:c.1753+1G>C;ENST00000399097:exon18:c.856+1G>C;ENST00000269190:exon21:c.1915+1G>C;ENST00000595022:exon17:c.1732+1G>C;ENST00000598142:exon17:c.1741+1G>C;ENST00000444659:exon18:c.1912+1G>C;ENST00000399113:exon18:c.1912+1G>C;ENST00000601125:exon9:c.778+1G>C;ENST00000269192:exon12:c.1039+1G>C;ENST00000591182:exon10:c.856+1G>C;ENST00000556414:exon10:c.868+1G>C;ENST00000590831:exon2:c.190+1G>C)	.	.	0.999986675681007	0.932
18	32457773	G	T	18	34877809	y	y	splicing	DTNA(NM_032975:exon18:c.1741+1G>T;NM_001198940:exon17:c.1732+1G>T;NM_001198939:exon18:c.1753+1G>T;NM_001198938:exon17:c.1732+1G>T;NM_001390:exon18:c.1912+1G>T;NM_001198943:exon9:c.982+1G>T;NM_001198944:exon10:c.868+1G>T;NM_001198942:exon12:c.1039+1G>T;NM_032980:exon10:c.856+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1741+1G>T;ENST00000598334:exon17:c.1732+1G>T;ENST00000399121:exon18:c.1753+1G>T;ENST00000399097:exon18:c.856+1G>T;ENST00000269190:exon21:c.1915+1G>T;ENST00000595022:exon17:c.1732+1G>T;ENST00000598142:exon17:c.1741+1G>T;ENST00000444659:exon18:c.1912+1G>T;ENST00000399113:exon18:c.1912+1G>T;ENST00000601125:exon9:c.778+1G>T;ENST00000269192:exon12:c.1039+1G>T;ENST00000591182:exon10:c.856+1G>T;ENST00000556414:exon10:c.868+1G>T;ENST00000590831:exon2:c.190+1G>T)	.	.	0.999986675681007	0.932
18	32457774	T	A	18	34877810	y	y	splicing	DTNA(NM_032975:exon18:c.1741+2T>A;NM_001198940:exon17:c.1732+2T>A;NM_001198939:exon18:c.1753+2T>A;NM_001198938:exon17:c.1732+2T>A;NM_001390:exon18:c.1912+2T>A;NM_001198943:exon9:c.982+2T>A;NM_001198944:exon10:c.868+2T>A;NM_001198942:exon12:c.1039+2T>A;NM_032980:exon10:c.856+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1741+2T>A;ENST00000598334:exon17:c.1732+2T>A;ENST00000399121:exon18:c.1753+2T>A;ENST00000399097:exon18:c.856+2T>A;ENST00000269190:exon21:c.1915+2T>A;ENST00000595022:exon17:c.1732+2T>A;ENST00000598142:exon17:c.1741+2T>A;ENST00000444659:exon18:c.1912+2T>A;ENST00000399113:exon18:c.1912+2T>A;ENST00000601125:exon9:c.778+2T>A;ENST00000269192:exon12:c.1039+2T>A;ENST00000591182:exon10:c.856+2T>A;ENST00000556414:exon10:c.868+2T>A;ENST00000590831:exon2:c.190+2T>A)	.	.	0.999988247793601	0.928
18	32457774	T	C	18	34877810	y	y	splicing	DTNA(NM_032975:exon18:c.1741+2T>C;NM_001198940:exon17:c.1732+2T>C;NM_001198939:exon18:c.1753+2T>C;NM_001198938:exon17:c.1732+2T>C;NM_001390:exon18:c.1912+2T>C;NM_001198943:exon9:c.982+2T>C;NM_001198944:exon10:c.868+2T>C;NM_001198942:exon12:c.1039+2T>C;NM_032980:exon10:c.856+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1741+2T>C;ENST00000598334:exon17:c.1732+2T>C;ENST00000399121:exon18:c.1753+2T>C;ENST00000399097:exon18:c.856+2T>C;ENST00000269190:exon21:c.1915+2T>C;ENST00000595022:exon17:c.1732+2T>C;ENST00000598142:exon17:c.1741+2T>C;ENST00000444659:exon18:c.1912+2T>C;ENST00000399113:exon18:c.1912+2T>C;ENST00000601125:exon9:c.778+2T>C;ENST00000269192:exon12:c.1039+2T>C;ENST00000591182:exon10:c.856+2T>C;ENST00000556414:exon10:c.868+2T>C;ENST00000590831:exon2:c.190+2T>C)	.	.	0.99991520749976	0.868
18	32457774	T	G	18	34877810	y	y	splicing	DTNA(NM_032975:exon18:c.1741+2T>G;NM_001198940:exon17:c.1732+2T>G;NM_001198939:exon18:c.1753+2T>G;NM_001198938:exon17:c.1732+2T>G;NM_001390:exon18:c.1912+2T>G;NM_001198943:exon9:c.982+2T>G;NM_001198944:exon10:c.868+2T>G;NM_001198942:exon12:c.1039+2T>G;NM_032980:exon10:c.856+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon18:c.1741+2T>G;ENST00000598334:exon17:c.1732+2T>G;ENST00000399121:exon18:c.1753+2T>G;ENST00000399097:exon18:c.856+2T>G;ENST00000269190:exon21:c.1915+2T>G;ENST00000595022:exon17:c.1732+2T>G;ENST00000598142:exon17:c.1741+2T>G;ENST00000444659:exon18:c.1912+2T>G;ENST00000399113:exon18:c.1912+2T>G;ENST00000601125:exon9:c.778+2T>G;ENST00000269192:exon12:c.1039+2T>G;ENST00000591182:exon10:c.856+2T>G;ENST00000556414:exon10:c.868+2T>G;ENST00000590831:exon2:c.190+2T>G)	.	.	0.999988247793601	0.928
18	32457775	G	A	18	34877811	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.58293782291445E-5	0.0
18	32457775	G	C	18	34877811	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.900669105375818	0.65
18	32457775	G	T	18	34877811	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.880275661212974	0.556
18	32457776	A	C	18	34877812	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.631011084637259	0.352
18	32457776	A	G	18	34877812	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.847092076867713	0.55
18	32457776	A	T	18	34877812	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.916118560014484	0.55
18	32457777	G	A	18	34877813	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999794696225631	0.96
18	32457777	G	C	18	34877813	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999937751858473	0.854
18	32457777	G	T	18	34877813	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999806113608786	0.92
18	32457778	T	A	18	34877814	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00185948234805499	0.108
18	32457778	T	C	18	34877814	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00119217643183798	0.116
18	32457778	T	G	18	34877814	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.1302328379964E-4	0.072
18	32457779	T	A	18	34877815	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.49987850486752E-5	0.0
18	32457779	T	C	18	34877815	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.07256548728156E-5	0.0
18	32457779	T	G	18	34877815	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.64745399314608E-5	0.0
18	32457780	C	A	18	34877816	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.95448509927641E-5	0.0
18	32457780	C	G	18	34877816	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.10726374030421E-4	0.002
18	32457780	C	T	18	34877816	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.5795485938116E-5	0.0
18	32459503	T	A	18	34879539	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999911922973475	0.962
18	32459503	T	C	18	34879539	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00111168583490068	0.142
18	32459503	T	G	18	34879539	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.95896724097559	0.704
18	32459504	G	A	18	34879540	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00118060312206218	0.13
18	32459504	G	C	18	34879540	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.78193867941672E-5	0.006
18	32459504	G	T	18	34879540	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.8171693008674E-4	0.102
18	32459505	T	A	18	34879541	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.23006428660113	0.544
18	32459505	T	C	18	34879541	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0181731858340952	0.094
18	32459505	T	G	18	34879541	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.307551103464754	0.528
18	32459506	A	C	18	34879542	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.6559268555496E-5	0.022
18	32459506	A	G	18	34879542	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.20964988553978E-5	0.008
18	32459506	A	T	18	34879542	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.96795757222039E-5	0.038
18	32459507	T	A	18	34879543	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0424700931853693	0.408
18	32459507	T	C	18	34879543	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00108827604710403	0.062
18	32459507	T	G	18	34879543	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997615042858318	0.934
18	32459508	C	A	18	34879544	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00109695181174275	0.068
18	32459508	C	G	18	34879544	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00327754435475121	0.078
18	32459508	C	T	18	34879544	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.16860884747559E-5	0.0
18	32459509	T	A	18	34879545	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999961189889735	0.956
18	32459509	T	C	18	34879545	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.17155339779151E-4	0.038
18	32459509	T	G	18	34879545	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.940254142525926	0.728
18	32459510	G	A	18	34879546	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.04776132254453E-4	0.0
18	32459510	G	C	18	34879546	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.88753453131672E-5	0.0
18	32459510	G	T	18	34879546	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.47379903712073E-5	0.01
18	32459511	C	A	18	34879547	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.13255384786081E-5	0.002
18	32459511	C	G	18	34879547	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.95779898351333E-4	0.02
18	32459511	C	T	18	34879547	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.03990743765899E-4	0.034
18	32459512	T	A	18	34879548	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.913985878834924	0.584
18	32459512	T	C	18	34879548	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.84908947408232E-5	0.034
18	32459512	T	G	18	34879548	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.974914571148292	0.718
18	32459513	A	C	18	34879549	y	y	splicing	DTNA(NM_032975:exon19:c.1742-2A>C;NM_001198940:exon18:c.1733-2A>C;NM_001198939:exon19:c.1754-2A>C;NM_001198938:exon18:c.1733-2A>C;NM_001390:exon19:c.1913-2A>C;NM_001198943:exon10:c.983-2A>C;NM_001198944:exon11:c.869-2A>C;NM_001198942:exon13:c.1040-2A>C;NM_032980:exon11:c.857-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1742-2A>C;ENST00000598334:exon18:c.1733-2A>C;ENST00000399121:exon19:c.1754-2A>C;ENST00000399097:exon19:c.857-2A>C;ENST00000269190:exon22:c.1916-2A>C;ENST00000595022:exon18:c.1733-2A>C;ENST00000598142:exon18:c.1742-2A>C;ENST00000444659:exon19:c.1913-2A>C;ENST00000399113:exon19:c.1913-2A>C;ENST00000601125:exon10:c.779-2A>C;ENST00000269192:exon13:c.1040-2A>C;ENST00000591182:exon11:c.857-2A>C;ENST00000556414:exon11:c.869-2A>C;ENST00000590831:exon3:c.191-2A>C)	.	.	0.999977459371092	0.918
18	32459513	A	G	18	34879549	y	y	splicing	DTNA(NM_032975:exon19:c.1742-2A>G;NM_001198940:exon18:c.1733-2A>G;NM_001198939:exon19:c.1754-2A>G;NM_001198938:exon18:c.1733-2A>G;NM_001390:exon19:c.1913-2A>G;NM_001198943:exon10:c.983-2A>G;NM_001198944:exon11:c.869-2A>G;NM_001198942:exon13:c.1040-2A>G;NM_032980:exon11:c.857-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1742-2A>G;ENST00000598334:exon18:c.1733-2A>G;ENST00000399121:exon19:c.1754-2A>G;ENST00000399097:exon19:c.857-2A>G;ENST00000269190:exon22:c.1916-2A>G;ENST00000595022:exon18:c.1733-2A>G;ENST00000598142:exon18:c.1742-2A>G;ENST00000444659:exon19:c.1913-2A>G;ENST00000399113:exon19:c.1913-2A>G;ENST00000601125:exon10:c.779-2A>G;ENST00000269192:exon13:c.1040-2A>G;ENST00000591182:exon11:c.857-2A>G;ENST00000556414:exon11:c.869-2A>G;ENST00000590831:exon3:c.191-2A>G)	.	.	0.999977459371092	0.918
18	32459513	A	T	18	34879549	y	y	splicing	DTNA(NM_032975:exon19:c.1742-2A>T;NM_001198940:exon18:c.1733-2A>T;NM_001198939:exon19:c.1754-2A>T;NM_001198938:exon18:c.1733-2A>T;NM_001390:exon19:c.1913-2A>T;NM_001198943:exon10:c.983-2A>T;NM_001198944:exon11:c.869-2A>T;NM_001198942:exon13:c.1040-2A>T;NM_032980:exon11:c.857-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1742-2A>T;ENST00000598334:exon18:c.1733-2A>T;ENST00000399121:exon19:c.1754-2A>T;ENST00000399097:exon19:c.857-2A>T;ENST00000269190:exon22:c.1916-2A>T;ENST00000595022:exon18:c.1733-2A>T;ENST00000598142:exon18:c.1742-2A>T;ENST00000444659:exon19:c.1913-2A>T;ENST00000399113:exon19:c.1913-2A>T;ENST00000601125:exon10:c.779-2A>T;ENST00000269192:exon13:c.1040-2A>T;ENST00000591182:exon11:c.857-2A>T;ENST00000556414:exon11:c.869-2A>T;ENST00000590831:exon3:c.191-2A>T)	.	.	0.999977459371092	0.918
18	32459514	G	A	18	34879550	y	y	splicing	DTNA(NM_032975:exon19:c.1742-1G>A;NM_001198940:exon18:c.1733-1G>A;NM_001198939:exon19:c.1754-1G>A;NM_001198938:exon18:c.1733-1G>A;NM_001390:exon19:c.1913-1G>A;NM_001198943:exon10:c.983-1G>A;NM_001198944:exon11:c.869-1G>A;NM_001198942:exon13:c.1040-1G>A;NM_032980:exon11:c.857-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1742-1G>A;ENST00000598334:exon18:c.1733-1G>A;ENST00000399121:exon19:c.1754-1G>A;ENST00000399097:exon19:c.857-1G>A;ENST00000269190:exon22:c.1916-1G>A;ENST00000595022:exon18:c.1733-1G>A;ENST00000598142:exon18:c.1742-1G>A;ENST00000444659:exon19:c.1913-1G>A;ENST00000399113:exon19:c.1913-1G>A;ENST00000601125:exon10:c.779-1G>A;ENST00000269192:exon13:c.1040-1G>A;ENST00000591182:exon11:c.857-1G>A;ENST00000556414:exon11:c.869-1G>A;ENST00000590831:exon3:c.191-1G>A)	.	.	0.999969034591369	0.898
18	32459514	G	C	18	34879550	y	y	splicing	DTNA(NM_032975:exon19:c.1742-1G>C;NM_001198940:exon18:c.1733-1G>C;NM_001198939:exon19:c.1754-1G>C;NM_001198938:exon18:c.1733-1G>C;NM_001390:exon19:c.1913-1G>C;NM_001198943:exon10:c.983-1G>C;NM_001198944:exon11:c.869-1G>C;NM_001198942:exon13:c.1040-1G>C;NM_032980:exon11:c.857-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1742-1G>C;ENST00000598334:exon18:c.1733-1G>C;ENST00000399121:exon19:c.1754-1G>C;ENST00000399097:exon19:c.857-1G>C;ENST00000269190:exon22:c.1916-1G>C;ENST00000595022:exon18:c.1733-1G>C;ENST00000598142:exon18:c.1742-1G>C;ENST00000444659:exon19:c.1913-1G>C;ENST00000399113:exon19:c.1913-1G>C;ENST00000601125:exon10:c.779-1G>C;ENST00000269192:exon13:c.1040-1G>C;ENST00000591182:exon11:c.857-1G>C;ENST00000556414:exon11:c.869-1G>C;ENST00000590831:exon3:c.191-1G>C)	.	.	0.999981513183847	0.918
18	32459514	G	T	18	34879550	y	y	splicing	DTNA(NM_032975:exon19:c.1742-1G>T;NM_001198940:exon18:c.1733-1G>T;NM_001198939:exon19:c.1754-1G>T;NM_001198938:exon18:c.1733-1G>T;NM_001390:exon19:c.1913-1G>T;NM_001198943:exon10:c.983-1G>T;NM_001198944:exon11:c.869-1G>T;NM_001198942:exon13:c.1040-1G>T;NM_032980:exon11:c.857-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1742-1G>T;ENST00000598334:exon18:c.1733-1G>T;ENST00000399121:exon19:c.1754-1G>T;ENST00000399097:exon19:c.857-1G>T;ENST00000269190:exon22:c.1916-1G>T;ENST00000595022:exon18:c.1733-1G>T;ENST00000598142:exon18:c.1742-1G>T;ENST00000444659:exon19:c.1913-1G>T;ENST00000399113:exon19:c.1913-1G>T;ENST00000601125:exon10:c.779-1G>T;ENST00000269192:exon13:c.1040-1G>T;ENST00000591182:exon11:c.857-1G>T;ENST00000556414:exon11:c.869-1G>T;ENST00000590831:exon3:c.191-1G>T)	.	.	0.999981513183847	0.916
18	32459515	A	C	18	34879551	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.A1913C:p.E638A;DTNA:NM_001198938:exon18:c.A1733C:p.E578A;DTNA:NM_001198943:exon10:c.A983C:p.E328A;DTNA:NM_001198942:exon13:c.A1040C:p.E347A;DTNA:NM_001198944:exon11:c.A869C:p.E290A;DTNA:NM_001198940:exon18:c.A1733C:p.E578A;DTNA:NM_001198939:exon19:c.A1754C:p.E585A;DTNA:NM_032980:exon11:c.A857C:p.E286A;DTNA:NM_032975:exon19:c.A1742C:p.E581A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.A857C:p.E286A;ENSG00000134769:ENST00000598334:exon18:c.A1733C:p.E578A;ENSG00000134769:ENST00000595022:exon18:c.A1733C:p.E578A;ENSG00000134769:ENST00000444659:exon19:c.A1913C:p.E638A;ENSG00000134769:ENST00000283365:exon19:c.A1742C:p.E581A;ENSG00000134769:ENST00000399113:exon19:c.A1913C:p.E638A;ENSG00000134769:ENST00000556414:exon11:c.A869C:p.E290A;ENSG00000134769:ENST00000269190:exon22:c.A1916C:p.E639A;ENSG00000134769:ENST00000399121:exon19:c.A1754C:p.E585A;ENSG00000134769:ENST00000590831:exon3:c.A191C:p.E64A;ENSG00000134769:ENST00000269192:exon13:c.A1040C:p.E347A;ENSG00000134769:ENST00000591182:exon11:c.A857C:p.E286A;ENSG00000134769:ENST00000598142:exon18:c.A1742C:p.E581A;ENSG00000134769:ENST00000601125:exon10:c.A779C:p.E260A;	0.84591017329162	0.58
18	32459515	A	G	18	34879551	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.A1913G:p.E638G;DTNA:NM_001198938:exon18:c.A1733G:p.E578G;DTNA:NM_001198943:exon10:c.A983G:p.E328G;DTNA:NM_001198942:exon13:c.A1040G:p.E347G;DTNA:NM_001198944:exon11:c.A869G:p.E290G;DTNA:NM_001198940:exon18:c.A1733G:p.E578G;DTNA:NM_001198939:exon19:c.A1754G:p.E585G;DTNA:NM_032980:exon11:c.A857G:p.E286G;DTNA:NM_032975:exon19:c.A1742G:p.E581G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.A857G:p.E286G;ENSG00000134769:ENST00000598334:exon18:c.A1733G:p.E578G;ENSG00000134769:ENST00000595022:exon18:c.A1733G:p.E578G;ENSG00000134769:ENST00000444659:exon19:c.A1913G:p.E638G;ENSG00000134769:ENST00000283365:exon19:c.A1742G:p.E581G;ENSG00000134769:ENST00000399113:exon19:c.A1913G:p.E638G;ENSG00000134769:ENST00000556414:exon11:c.A869G:p.E290G;ENSG00000134769:ENST00000269190:exon22:c.A1916G:p.E639G;ENSG00000134769:ENST00000399121:exon19:c.A1754G:p.E585G;ENSG00000134769:ENST00000590831:exon3:c.A191G:p.E64G;ENSG00000134769:ENST00000269192:exon13:c.A1040G:p.E347G;ENSG00000134769:ENST00000591182:exon11:c.A857G:p.E286G;ENSG00000134769:ENST00000598142:exon18:c.A1742G:p.E581G;ENSG00000134769:ENST00000601125:exon10:c.A779G:p.E260G;	0.126021508998599	0.338
18	32459515	A	T	18	34879551	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.A1913T:p.E638V;DTNA:NM_001198938:exon18:c.A1733T:p.E578V;DTNA:NM_001198943:exon10:c.A983T:p.E328V;DTNA:NM_001198942:exon13:c.A1040T:p.E347V;DTNA:NM_001198944:exon11:c.A869T:p.E290V;DTNA:NM_001198940:exon18:c.A1733T:p.E578V;DTNA:NM_001198939:exon19:c.A1754T:p.E585V;DTNA:NM_032980:exon11:c.A857T:p.E286V;DTNA:NM_032975:exon19:c.A1742T:p.E581V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.A857T:p.E286V;ENSG00000134769:ENST00000598334:exon18:c.A1733T:p.E578V;ENSG00000134769:ENST00000595022:exon18:c.A1733T:p.E578V;ENSG00000134769:ENST00000444659:exon19:c.A1913T:p.E638V;ENSG00000134769:ENST00000283365:exon19:c.A1742T:p.E581V;ENSG00000134769:ENST00000399113:exon19:c.A1913T:p.E638V;ENSG00000134769:ENST00000556414:exon11:c.A869T:p.E290V;ENSG00000134769:ENST00000269190:exon22:c.A1916T:p.E639V;ENSG00000134769:ENST00000399121:exon19:c.A1754T:p.E585V;ENSG00000134769:ENST00000590831:exon3:c.A191T:p.E64V;ENSG00000134769:ENST00000269192:exon13:c.A1040T:p.E347V;ENSG00000134769:ENST00000591182:exon11:c.A857T:p.E286V;ENSG00000134769:ENST00000598142:exon18:c.A1742T:p.E581V;ENSG00000134769:ENST00000601125:exon10:c.A779T:p.E260V;	0.834426668228435	0.488
18	32459516	G	A	18	34879552	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001390:exon19:c.G1914A:p.E638E;DTNA:NM_001198938:exon18:c.G1734A:p.E578E;DTNA:NM_001198943:exon10:c.G984A:p.E328E;DTNA:NM_001198942:exon13:c.G1041A:p.E347E;DTNA:NM_001198944:exon11:c.G870A:p.E290E;DTNA:NM_001198940:exon18:c.G1734A:p.E578E;DTNA:NM_001198939:exon19:c.G1755A:p.E585E;DTNA:NM_032980:exon11:c.G858A:p.E286E;DTNA:NM_032975:exon19:c.G1743A:p.E581E;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.G858A:p.E286E;ENSG00000134769:ENST00000598334:exon18:c.G1734A:p.E578E;ENSG00000134769:ENST00000595022:exon18:c.G1734A:p.E578E;ENSG00000134769:ENST00000444659:exon19:c.G1914A:p.E638E;ENSG00000134769:ENST00000283365:exon19:c.G1743A:p.E581E;ENSG00000134769:ENST00000399113:exon19:c.G1914A:p.E638E;ENSG00000134769:ENST00000556414:exon11:c.G870A:p.E290E;ENSG00000134769:ENST00000269190:exon22:c.G1917A:p.E639E;ENSG00000134769:ENST00000399121:exon19:c.G1755A:p.E585E;ENSG00000134769:ENST00000590831:exon3:c.G192A:p.E64E;ENSG00000134769:ENST00000269192:exon13:c.G1041A:p.E347E;ENSG00000134769:ENST00000591182:exon11:c.G858A:p.E286E;ENSG00000134769:ENST00000598142:exon18:c.G1743A:p.E581E;ENSG00000134769:ENST00000601125:exon10:c.G780A:p.E260E;	6.57205036459846E-5	0.028
18	32459516	G	C	18	34879552	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.G1914C:p.E638D;DTNA:NM_001198938:exon18:c.G1734C:p.E578D;DTNA:NM_001198943:exon10:c.G984C:p.E328D;DTNA:NM_001198942:exon13:c.G1041C:p.E347D;DTNA:NM_001198944:exon11:c.G870C:p.E290D;DTNA:NM_001198940:exon18:c.G1734C:p.E578D;DTNA:NM_001198939:exon19:c.G1755C:p.E585D;DTNA:NM_032980:exon11:c.G858C:p.E286D;DTNA:NM_032975:exon19:c.G1743C:p.E581D;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.G858C:p.E286D;ENSG00000134769:ENST00000598334:exon18:c.G1734C:p.E578D;ENSG00000134769:ENST00000595022:exon18:c.G1734C:p.E578D;ENSG00000134769:ENST00000444659:exon19:c.G1914C:p.E638D;ENSG00000134769:ENST00000283365:exon19:c.G1743C:p.E581D;ENSG00000134769:ENST00000399113:exon19:c.G1914C:p.E638D;ENSG00000134769:ENST00000556414:exon11:c.G870C:p.E290D;ENSG00000134769:ENST00000269190:exon22:c.G1917C:p.E639D;ENSG00000134769:ENST00000399121:exon19:c.G1755C:p.E585D;ENSG00000134769:ENST00000590831:exon3:c.G192C:p.E64D;ENSG00000134769:ENST00000269192:exon13:c.G1041C:p.E347D;ENSG00000134769:ENST00000591182:exon11:c.G858C:p.E286D;ENSG00000134769:ENST00000598142:exon18:c.G1743C:p.E581D;ENSG00000134769:ENST00000601125:exon10:c.G780C:p.E260D;	6.31443476182878E-5	0.004
18	32459516	G	T	18	34879552	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.G1914T:p.E638D;DTNA:NM_001198938:exon18:c.G1734T:p.E578D;DTNA:NM_001198943:exon10:c.G984T:p.E328D;DTNA:NM_001198942:exon13:c.G1041T:p.E347D;DTNA:NM_001198944:exon11:c.G870T:p.E290D;DTNA:NM_001198940:exon18:c.G1734T:p.E578D;DTNA:NM_001198939:exon19:c.G1755T:p.E585D;DTNA:NM_032980:exon11:c.G858T:p.E286D;DTNA:NM_032975:exon19:c.G1743T:p.E581D;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.G858T:p.E286D;ENSG00000134769:ENST00000598334:exon18:c.G1734T:p.E578D;ENSG00000134769:ENST00000595022:exon18:c.G1734T:p.E578D;ENSG00000134769:ENST00000444659:exon19:c.G1914T:p.E638D;ENSG00000134769:ENST00000283365:exon19:c.G1743T:p.E581D;ENSG00000134769:ENST00000399113:exon19:c.G1914T:p.E638D;ENSG00000134769:ENST00000556414:exon11:c.G870T:p.E290D;ENSG00000134769:ENST00000269190:exon22:c.G1917T:p.E639D;ENSG00000134769:ENST00000399121:exon19:c.G1755T:p.E585D;ENSG00000134769:ENST00000590831:exon3:c.G192T:p.E64D;ENSG00000134769:ENST00000269192:exon13:c.G1041T:p.E347D;ENSG00000134769:ENST00000591182:exon11:c.G858T:p.E286D;ENSG00000134769:ENST00000598142:exon18:c.G1743T:p.E581D;ENSG00000134769:ENST00000601125:exon10:c.G780T:p.E260D;	4.82970958210443E-4	0.026
18	32459681	C	A	18	34879717	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.C2079A:p.D693E;DTNA:NM_001198938:exon18:c.C1899A:p.D633E;DTNA:NM_001198943:exon10:c.C1149A:p.D383E;DTNA:NM_001198942:exon13:c.C1206A:p.D402E;DTNA:NM_001198944:exon11:c.C1035A:p.D345E;DTNA:NM_001198940:exon18:c.C1899A:p.D633E;DTNA:NM_001198939:exon19:c.C1920A:p.D640E;DTNA:NM_032980:exon11:c.C1023A:p.D341E;DTNA:NM_032975:exon19:c.C1908A:p.D636E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.C1023A:p.D341E;ENSG00000134769:ENST00000598334:exon18:c.C1899A:p.D633E;ENSG00000134769:ENST00000595022:exon18:c.C1899A:p.D633E;ENSG00000134769:ENST00000444659:exon19:c.C2079A:p.D693E;ENSG00000134769:ENST00000283365:exon19:c.C1908A:p.D636E;ENSG00000134769:ENST00000399113:exon19:c.C2079A:p.D693E;ENSG00000134769:ENST00000556414:exon11:c.C1035A:p.D345E;ENSG00000134769:ENST00000269190:exon22:c.C2082A:p.D694E;ENSG00000134769:ENST00000399121:exon19:c.C1920A:p.D640E;ENSG00000134769:ENST00000590831:exon3:c.C357A:p.D119E;ENSG00000134769:ENST00000269192:exon13:c.C1206A:p.D402E;ENSG00000134769:ENST00000591182:exon11:c.C1023A:p.D341E;ENSG00000134769:ENST00000598142:exon18:c.C1908A:p.D636E;ENSG00000134769:ENST00000601125:exon10:c.C945A:p.D315E;	2.04339186083725E-4	0.024
18	32459681	C	G	18	34879717	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.C2079G:p.D693E;DTNA:NM_001198938:exon18:c.C1899G:p.D633E;DTNA:NM_001198943:exon10:c.C1149G:p.D383E;DTNA:NM_001198942:exon13:c.C1206G:p.D402E;DTNA:NM_001198944:exon11:c.C1035G:p.D345E;DTNA:NM_001198940:exon18:c.C1899G:p.D633E;DTNA:NM_001198939:exon19:c.C1920G:p.D640E;DTNA:NM_032980:exon11:c.C1023G:p.D341E;DTNA:NM_032975:exon19:c.C1908G:p.D636E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.C1023G:p.D341E;ENSG00000134769:ENST00000598334:exon18:c.C1899G:p.D633E;ENSG00000134769:ENST00000595022:exon18:c.C1899G:p.D633E;ENSG00000134769:ENST00000444659:exon19:c.C2079G:p.D693E;ENSG00000134769:ENST00000283365:exon19:c.C1908G:p.D636E;ENSG00000134769:ENST00000399113:exon19:c.C2079G:p.D693E;ENSG00000134769:ENST00000556414:exon11:c.C1035G:p.D345E;ENSG00000134769:ENST00000269190:exon22:c.C2082G:p.D694E;ENSG00000134769:ENST00000399121:exon19:c.C1920G:p.D640E;ENSG00000134769:ENST00000590831:exon3:c.C357G:p.D119E;ENSG00000134769:ENST00000269192:exon13:c.C1206G:p.D402E;ENSG00000134769:ENST00000591182:exon11:c.C1023G:p.D341E;ENSG00000134769:ENST00000598142:exon18:c.C1908G:p.D636E;ENSG00000134769:ENST00000601125:exon10:c.C945G:p.D315E;	3.12165783982735E-4	0.028
18	32459681	C	T	18	34879717	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001390:exon19:c.C2079T:p.D693D;DTNA:NM_001198938:exon18:c.C1899T:p.D633D;DTNA:NM_001198943:exon10:c.C1149T:p.D383D;DTNA:NM_001198942:exon13:c.C1206T:p.D402D;DTNA:NM_001198944:exon11:c.C1035T:p.D345D;DTNA:NM_001198940:exon18:c.C1899T:p.D633D;DTNA:NM_001198939:exon19:c.C1920T:p.D640D;DTNA:NM_032980:exon11:c.C1023T:p.D341D;DTNA:NM_032975:exon19:c.C1908T:p.D636D;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.C1023T:p.D341D;ENSG00000134769:ENST00000598334:exon18:c.C1899T:p.D633D;ENSG00000134769:ENST00000595022:exon18:c.C1899T:p.D633D;ENSG00000134769:ENST00000444659:exon19:c.C2079T:p.D693D;ENSG00000134769:ENST00000283365:exon19:c.C1908T:p.D636D;ENSG00000134769:ENST00000399113:exon19:c.C2079T:p.D693D;ENSG00000134769:ENST00000556414:exon11:c.C1035T:p.D345D;ENSG00000134769:ENST00000269190:exon22:c.C2082T:p.D694D;ENSG00000134769:ENST00000399121:exon19:c.C1920T:p.D640D;ENSG00000134769:ENST00000590831:exon3:c.C357T:p.D119D;ENSG00000134769:ENST00000269192:exon13:c.C1206T:p.D402D;ENSG00000134769:ENST00000591182:exon11:c.C1023T:p.D341D;ENSG00000134769:ENST00000598142:exon18:c.C1908T:p.D636D;ENSG00000134769:ENST00000601125:exon10:c.C945T:p.D315D;	0.0171093120184094	0.406
18	32459682	A	C	18	34879718	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.A2080C:p.M694L;DTNA:NM_001198938:exon18:c.A1900C:p.M634L;DTNA:NM_001198943:exon10:c.A1150C:p.M384L;DTNA:NM_001198942:exon13:c.A1207C:p.M403L;DTNA:NM_001198944:exon11:c.A1036C:p.M346L;DTNA:NM_001198940:exon18:c.A1900C:p.M634L;DTNA:NM_001198939:exon19:c.A1921C:p.M641L;DTNA:NM_032980:exon11:c.A1024C:p.M342L;DTNA:NM_032975:exon19:c.A1909C:p.M637L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.A1024C:p.M342L;ENSG00000134769:ENST00000598334:exon18:c.A1900C:p.M634L;ENSG00000134769:ENST00000595022:exon18:c.A1900C:p.M634L;ENSG00000134769:ENST00000444659:exon19:c.A2080C:p.M694L;ENSG00000134769:ENST00000283365:exon19:c.A1909C:p.M637L;ENSG00000134769:ENST00000399113:exon19:c.A2080C:p.M694L;ENSG00000134769:ENST00000556414:exon11:c.A1036C:p.M346L;ENSG00000134769:ENST00000269190:exon22:c.A2083C:p.M695L;ENSG00000134769:ENST00000399121:exon19:c.A1921C:p.M641L;ENSG00000134769:ENST00000590831:exon3:c.A358C:p.M120L;ENSG00000134769:ENST00000269192:exon13:c.A1207C:p.M403L;ENSG00000134769:ENST00000591182:exon11:c.A1024C:p.M342L;ENSG00000134769:ENST00000598142:exon18:c.A1909C:p.M637L;ENSG00000134769:ENST00000601125:exon10:c.A946C:p.M316L;	0.0897221573723977	0.624
18	32459682	A	G	18	34879718	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.A2080G:p.M694V;DTNA:NM_001198938:exon18:c.A1900G:p.M634V;DTNA:NM_001198943:exon10:c.A1150G:p.M384V;DTNA:NM_001198942:exon13:c.A1207G:p.M403V;DTNA:NM_001198944:exon11:c.A1036G:p.M346V;DTNA:NM_001198940:exon18:c.A1900G:p.M634V;DTNA:NM_001198939:exon19:c.A1921G:p.M641V;DTNA:NM_032980:exon11:c.A1024G:p.M342V;DTNA:NM_032975:exon19:c.A1909G:p.M637V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.A1024G:p.M342V;ENSG00000134769:ENST00000598334:exon18:c.A1900G:p.M634V;ENSG00000134769:ENST00000595022:exon18:c.A1900G:p.M634V;ENSG00000134769:ENST00000444659:exon19:c.A2080G:p.M694V;ENSG00000134769:ENST00000283365:exon19:c.A1909G:p.M637V;ENSG00000134769:ENST00000399113:exon19:c.A2080G:p.M694V;ENSG00000134769:ENST00000556414:exon11:c.A1036G:p.M346V;ENSG00000134769:ENST00000269190:exon22:c.A2083G:p.M695V;ENSG00000134769:ENST00000399121:exon19:c.A1921G:p.M641V;ENSG00000134769:ENST00000590831:exon3:c.A358G:p.M120V;ENSG00000134769:ENST00000269192:exon13:c.A1207G:p.M403V;ENSG00000134769:ENST00000591182:exon11:c.A1024G:p.M342V;ENSG00000134769:ENST00000598142:exon18:c.A1909G:p.M637V;ENSG00000134769:ENST00000601125:exon10:c.A946G:p.M316V;	0.134247668355122	0.536
18	32459682	A	T	18	34879718	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.A2080T:p.M694L;DTNA:NM_001198938:exon18:c.A1900T:p.M634L;DTNA:NM_001198943:exon10:c.A1150T:p.M384L;DTNA:NM_001198942:exon13:c.A1207T:p.M403L;DTNA:NM_001198944:exon11:c.A1036T:p.M346L;DTNA:NM_001198940:exon18:c.A1900T:p.M634L;DTNA:NM_001198939:exon19:c.A1921T:p.M641L;DTNA:NM_032980:exon11:c.A1024T:p.M342L;DTNA:NM_032975:exon19:c.A1909T:p.M637L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.A1024T:p.M342L;ENSG00000134769:ENST00000598334:exon18:c.A1900T:p.M634L;ENSG00000134769:ENST00000595022:exon18:c.A1900T:p.M634L;ENSG00000134769:ENST00000444659:exon19:c.A2080T:p.M694L;ENSG00000134769:ENST00000283365:exon19:c.A1909T:p.M637L;ENSG00000134769:ENST00000399113:exon19:c.A2080T:p.M694L;ENSG00000134769:ENST00000556414:exon11:c.A1036T:p.M346L;ENSG00000134769:ENST00000269190:exon22:c.A2083T:p.M695L;ENSG00000134769:ENST00000399121:exon19:c.A1921T:p.M641L;ENSG00000134769:ENST00000590831:exon3:c.A358T:p.M120L;ENSG00000134769:ENST00000269192:exon13:c.A1207T:p.M403L;ENSG00000134769:ENST00000591182:exon11:c.A1024T:p.M342L;ENSG00000134769:ENST00000598142:exon18:c.A1909T:p.M637L;ENSG00000134769:ENST00000601125:exon10:c.A946T:p.M316L;	0.0631967149568664	0.606
18	32459683	T	A	18	34879719	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.T2081A:p.M694K;DTNA:NM_001198938:exon18:c.T1901A:p.M634K;DTNA:NM_001198943:exon10:c.T1151A:p.M384K;DTNA:NM_001198942:exon13:c.T1208A:p.M403K;DTNA:NM_001198944:exon11:c.T1037A:p.M346K;DTNA:NM_001198940:exon18:c.T1901A:p.M634K;DTNA:NM_001198939:exon19:c.T1922A:p.M641K;DTNA:NM_032980:exon11:c.T1025A:p.M342K;DTNA:NM_032975:exon19:c.T1910A:p.M637K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.T1025A:p.M342K;ENSG00000134769:ENST00000598334:exon18:c.T1901A:p.M634K;ENSG00000134769:ENST00000595022:exon18:c.T1901A:p.M634K;ENSG00000134769:ENST00000444659:exon19:c.T2081A:p.M694K;ENSG00000134769:ENST00000283365:exon19:c.T1910A:p.M637K;ENSG00000134769:ENST00000399113:exon19:c.T2081A:p.M694K;ENSG00000134769:ENST00000556414:exon11:c.T1037A:p.M346K;ENSG00000134769:ENST00000269190:exon22:c.T2084A:p.M695K;ENSG00000134769:ENST00000399121:exon19:c.T1922A:p.M641K;ENSG00000134769:ENST00000590831:exon3:c.T359A:p.M120K;ENSG00000134769:ENST00000269192:exon13:c.T1208A:p.M403K;ENSG00000134769:ENST00000591182:exon11:c.T1025A:p.M342K;ENSG00000134769:ENST00000598142:exon18:c.T1910A:p.M637K;ENSG00000134769:ENST00000601125:exon10:c.T947A:p.M316K;	1.9073000010013E-5	0.0
18	32459683	T	C	18	34879719	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.T2081C:p.M694T;DTNA:NM_001198938:exon18:c.T1901C:p.M634T;DTNA:NM_001198943:exon10:c.T1151C:p.M384T;DTNA:NM_001198942:exon13:c.T1208C:p.M403T;DTNA:NM_001198944:exon11:c.T1037C:p.M346T;DTNA:NM_001198940:exon18:c.T1901C:p.M634T;DTNA:NM_001198939:exon19:c.T1922C:p.M641T;DTNA:NM_032980:exon11:c.T1025C:p.M342T;DTNA:NM_032975:exon19:c.T1910C:p.M637T;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.T1025C:p.M342T;ENSG00000134769:ENST00000598334:exon18:c.T1901C:p.M634T;ENSG00000134769:ENST00000595022:exon18:c.T1901C:p.M634T;ENSG00000134769:ENST00000444659:exon19:c.T2081C:p.M694T;ENSG00000134769:ENST00000283365:exon19:c.T1910C:p.M637T;ENSG00000134769:ENST00000399113:exon19:c.T2081C:p.M694T;ENSG00000134769:ENST00000556414:exon11:c.T1037C:p.M346T;ENSG00000134769:ENST00000269190:exon22:c.T2084C:p.M695T;ENSG00000134769:ENST00000399121:exon19:c.T1922C:p.M641T;ENSG00000134769:ENST00000590831:exon3:c.T359C:p.M120T;ENSG00000134769:ENST00000269192:exon13:c.T1208C:p.M403T;ENSG00000134769:ENST00000591182:exon11:c.T1025C:p.M342T;ENSG00000134769:ENST00000598142:exon18:c.T1910C:p.M637T;ENSG00000134769:ENST00000601125:exon10:c.T947C:p.M316T;	8.33784870668679E-5	0.008
18	32459683	T	G	18	34879719	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon19:c.T2081G:p.M694R;DTNA:NM_001198938:exon18:c.T1901G:p.M634R;DTNA:NM_001198943:exon10:c.T1151G:p.M384R;DTNA:NM_001198942:exon13:c.T1208G:p.M403R;DTNA:NM_001198944:exon11:c.T1037G:p.M346R;DTNA:NM_001198940:exon18:c.T1901G:p.M634R;DTNA:NM_001198939:exon19:c.T1922G:p.M641R;DTNA:NM_032980:exon11:c.T1025G:p.M342R;DTNA:NM_032975:exon19:c.T1910G:p.M637R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon19:c.T1025G:p.M342R;ENSG00000134769:ENST00000598334:exon18:c.T1901G:p.M634R;ENSG00000134769:ENST00000595022:exon18:c.T1901G:p.M634R;ENSG00000134769:ENST00000444659:exon19:c.T2081G:p.M694R;ENSG00000134769:ENST00000283365:exon19:c.T1910G:p.M637R;ENSG00000134769:ENST00000399113:exon19:c.T2081G:p.M694R;ENSG00000134769:ENST00000556414:exon11:c.T1037G:p.M346R;ENSG00000134769:ENST00000269190:exon22:c.T2084G:p.M695R;ENSG00000134769:ENST00000399121:exon19:c.T1922G:p.M641R;ENSG00000134769:ENST00000590831:exon3:c.T359G:p.M120R;ENSG00000134769:ENST00000269192:exon13:c.T1208G:p.M403R;ENSG00000134769:ENST00000591182:exon11:c.T1025G:p.M342R;ENSG00000134769:ENST00000598142:exon18:c.T1910G:p.M637R;ENSG00000134769:ENST00000601125:exon10:c.T947G:p.M316R;	4.01778091949892E-5	0.048
18	32459684	G	A	18	34879720	y	y	splicing	DTNA(NM_032975:exon19:c.1910+1G>A;NM_001198940:exon18:c.1901+1G>A;NM_001198939:exon19:c.1922+1G>A;NM_001198938:exon18:c.1901+1G>A;NM_001390:exon19:c.2081+1G>A;NM_001198943:exon10:c.1151+1G>A;NM_001198944:exon11:c.1037+1G>A;NM_001198942:exon13:c.1208+1G>A;NM_032980:exon11:c.1025+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1910+1G>A;ENST00000598334:exon18:c.1901+1G>A;ENST00000399121:exon19:c.1922+1G>A;ENST00000399097:exon19:c.1025+1G>A;ENST00000269190:exon22:c.2084+1G>A;ENST00000595022:exon18:c.1901+1G>A;ENST00000598142:exon18:c.1910+1G>A;ENST00000444659:exon19:c.2081+1G>A;ENST00000399113:exon19:c.2081+1G>A;ENST00000601125:exon10:c.947+1G>A;ENST00000269192:exon13:c.1208+1G>A;ENST00000591182:exon11:c.1025+1G>A;ENST00000556414:exon11:c.1037+1G>A;ENST00000590831:exon3:c.359+1G>A)	.	.	0.999957897063701	0.896
18	32459684	G	C	18	34879720	y	y	splicing	DTNA(NM_032975:exon19:c.1910+1G>C;NM_001198940:exon18:c.1901+1G>C;NM_001198939:exon19:c.1922+1G>C;NM_001198938:exon18:c.1901+1G>C;NM_001390:exon19:c.2081+1G>C;NM_001198943:exon10:c.1151+1G>C;NM_001198944:exon11:c.1037+1G>C;NM_001198942:exon13:c.1208+1G>C;NM_032980:exon11:c.1025+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1910+1G>C;ENST00000598334:exon18:c.1901+1G>C;ENST00000399121:exon19:c.1922+1G>C;ENST00000399097:exon19:c.1025+1G>C;ENST00000269190:exon22:c.2084+1G>C;ENST00000595022:exon18:c.1901+1G>C;ENST00000598142:exon18:c.1910+1G>C;ENST00000444659:exon19:c.2081+1G>C;ENST00000399113:exon19:c.2081+1G>C;ENST00000601125:exon10:c.947+1G>C;ENST00000269192:exon13:c.1208+1G>C;ENST00000591182:exon11:c.1025+1G>C;ENST00000556414:exon11:c.1037+1G>C;ENST00000590831:exon3:c.359+1G>C)	.	.	0.999952286258862	0.88
18	32459684	G	T	18	34879720	y	y	splicing	DTNA(NM_032975:exon19:c.1910+1G>T;NM_001198940:exon18:c.1901+1G>T;NM_001198939:exon19:c.1922+1G>T;NM_001198938:exon18:c.1901+1G>T;NM_001390:exon19:c.2081+1G>T;NM_001198943:exon10:c.1151+1G>T;NM_001198944:exon11:c.1037+1G>T;NM_001198942:exon13:c.1208+1G>T;NM_032980:exon11:c.1025+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1910+1G>T;ENST00000598334:exon18:c.1901+1G>T;ENST00000399121:exon19:c.1922+1G>T;ENST00000399097:exon19:c.1025+1G>T;ENST00000269190:exon22:c.2084+1G>T;ENST00000595022:exon18:c.1901+1G>T;ENST00000598142:exon18:c.1910+1G>T;ENST00000444659:exon19:c.2081+1G>T;ENST00000399113:exon19:c.2081+1G>T;ENST00000601125:exon10:c.947+1G>T;ENST00000269192:exon13:c.1208+1G>T;ENST00000591182:exon11:c.1025+1G>T;ENST00000556414:exon11:c.1037+1G>T;ENST00000590831:exon3:c.359+1G>T)	.	.	0.999956785519844	0.872
18	32459685	T	A	18	34879721	y	y	splicing	DTNA(NM_032975:exon19:c.1910+2T>A;NM_001198940:exon18:c.1901+2T>A;NM_001198939:exon19:c.1922+2T>A;NM_001198938:exon18:c.1901+2T>A;NM_001390:exon19:c.2081+2T>A;NM_001198943:exon10:c.1151+2T>A;NM_001198944:exon11:c.1037+2T>A;NM_001198942:exon13:c.1208+2T>A;NM_032980:exon11:c.1025+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1910+2T>A;ENST00000598334:exon18:c.1901+2T>A;ENST00000399121:exon19:c.1922+2T>A;ENST00000399097:exon19:c.1025+2T>A;ENST00000269190:exon22:c.2084+2T>A;ENST00000595022:exon18:c.1901+2T>A;ENST00000598142:exon18:c.1910+2T>A;ENST00000444659:exon19:c.2081+2T>A;ENST00000399113:exon19:c.2081+2T>A;ENST00000601125:exon10:c.947+2T>A;ENST00000269192:exon13:c.1208+2T>A;ENST00000591182:exon11:c.1025+2T>A;ENST00000556414:exon11:c.1037+2T>A;ENST00000590831:exon3:c.359+2T>A)	.	.	0.999982151912279	0.888
18	32459685	T	C	18	34879721	y	y	splicing	DTNA(NM_032975:exon19:c.1910+2T>C;NM_001198940:exon18:c.1901+2T>C;NM_001198939:exon19:c.1922+2T>C;NM_001198938:exon18:c.1901+2T>C;NM_001390:exon19:c.2081+2T>C;NM_001198943:exon10:c.1151+2T>C;NM_001198944:exon11:c.1037+2T>C;NM_001198942:exon13:c.1208+2T>C;NM_032980:exon11:c.1025+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1910+2T>C;ENST00000598334:exon18:c.1901+2T>C;ENST00000399121:exon19:c.1922+2T>C;ENST00000399097:exon19:c.1025+2T>C;ENST00000269190:exon22:c.2084+2T>C;ENST00000595022:exon18:c.1901+2T>C;ENST00000598142:exon18:c.1910+2T>C;ENST00000444659:exon19:c.2081+2T>C;ENST00000399113:exon19:c.2081+2T>C;ENST00000601125:exon10:c.947+2T>C;ENST00000269192:exon13:c.1208+2T>C;ENST00000591182:exon11:c.1025+2T>C;ENST00000556414:exon11:c.1037+2T>C;ENST00000590831:exon3:c.359+2T>C)	.	.	0.999778102150765	0.818
18	32459685	T	G	18	34879721	y	y	splicing	DTNA(NM_032975:exon19:c.1910+2T>G;NM_001198940:exon18:c.1901+2T>G;NM_001198939:exon19:c.1922+2T>G;NM_001198938:exon18:c.1901+2T>G;NM_001390:exon19:c.2081+2T>G;NM_001198943:exon10:c.1151+2T>G;NM_001198944:exon11:c.1037+2T>G;NM_001198942:exon13:c.1208+2T>G;NM_032980:exon11:c.1025+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon19:c.1910+2T>G;ENST00000598334:exon18:c.1901+2T>G;ENST00000399121:exon19:c.1922+2T>G;ENST00000399097:exon19:c.1025+2T>G;ENST00000269190:exon22:c.2084+2T>G;ENST00000595022:exon18:c.1901+2T>G;ENST00000598142:exon18:c.1910+2T>G;ENST00000444659:exon19:c.2081+2T>G;ENST00000399113:exon19:c.2081+2T>G;ENST00000601125:exon10:c.947+2T>G;ENST00000269192:exon13:c.1208+2T>G;ENST00000591182:exon11:c.1025+2T>G;ENST00000556414:exon11:c.1037+2T>G;ENST00000590831:exon3:c.359+2T>G)	.	.	0.999972155025474	0.85
18	32459686	G	A	18	34879722	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.48528553975668E-5	0.0
18	32459686	G	C	18	34879722	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.93088000975693	0.566
18	32459686	G	T	18	34879722	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.982782240967118	0.506
18	32459687	A	C	18	34879723	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.957007130868841	0.766
18	32459687	A	G	18	34879723	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.972951874511779	0.834
18	32459687	A	T	18	34879723	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.995952562514738	0.892
18	32459688	G	A	18	34879724	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999930055710478	0.972
18	32459688	G	C	18	34879724	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999775387387993	0.882
18	32459688	G	T	18	34879724	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999980038161626	0.982
18	32459689	T	A	18	34879725	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.926330822192538	0.71
18	32459689	T	C	18	34879725	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.948957174343166	0.662
18	32459689	T	G	18	34879725	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.411854299958385	0.558
18	32459690	A	C	18	34879726	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.38731564659595E-5	0.0
18	32459690	A	G	18	34879726	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.21775140396569E-5	0.0
18	32459690	A	T	18	34879726	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.17720520140758E-5	0.0
18	32459691	T	A	18	34879727	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.34733883516708E-5	0.0
18	32459691	T	C	18	34879727	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.59797615271383E-5	0.002
18	32459691	T	G	18	34879727	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.09626596798527E-5	0.002
18	32462021	G	A	18	34882057	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.16453153906221E-5	0.0
18	32462021	G	C	18	34882057	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.03272425293411E-5	0.0
18	32462021	G	T	18	34882057	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.65047354028333E-5	0.0
18	32462022	T	A	18	34882058	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.615400048844566	0.404
18	32462022	T	C	18	34882058	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00201323697626208	0.086
18	32462022	T	G	18	34882058	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.262644259652175	0.424
18	32462023	T	A	18	34882059	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00784839728896685	0.308
18	32462023	T	C	18	34882059	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	5.11568760798593E-4	0.006
18	32462023	T	G	18	34882059	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0270301458260363	0.388
18	32462024	T	A	18	34882060	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.012711657334768	0.244
18	32462024	T	C	18	34882060	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.46087530342112E-4	0.036
18	32462024	T	G	18	34882060	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0195405423137204	0.242
18	32462025	A	C	18	34882061	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.07269276461887E-5	0.0
18	32462025	A	G	18	34882061	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.50556582317016E-5	0.0
18	32462025	A	T	18	34882061	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.07269276461887E-5	0.0
18	32462026	T	A	18	34882062	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0585905175238045	0.312
18	32462026	T	C	18	34882062	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.76792732012208E-4	0.012
18	32462026	T	G	18	34882062	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999841152095002	0.986
18	32462027	T	A	18	34882063	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.116598749106396	0.278
18	32462027	T	C	18	34882063	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.12920908033146E-5	0.014
18	32462027	T	G	18	34882063	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.230812550521766	0.342
18	32462028	T	A	18	34882064	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0255531656613845	0.178
18	32462028	T	C	18	34882064	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.76044297698119E-4	0.038
18	32462028	T	G	18	34882064	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.128736612657248	0.26
18	32462029	T	A	18	34882065	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.71861728628923E-5	0.0
18	32462029	T	C	18	34882065	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.14576464096684E-4	0.0
18	32462029	T	G	18	34882065	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.05921043718478E-4	0.0
18	32462030	C	A	18	34882066	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.894775659958868	0.41
18	32462030	C	G	18	34882066	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99982997946859	0.856
18	32462030	C	T	18	34882066	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0174765307704796	0.17
18	32462031	A	C	18	34882067	y	y	splicing	DTNA(NM_032975:exon20:c.1911-2A>C;NM_001198940:exon19:c.1902-2A>C;NM_001198939:exon20:c.1923-2A>C;NM_001198938:exon19:c.1902-2A>C;NM_001390:exon20:c.2082-2A>C;NM_001198943:exon11:c.1152-2A>C;NM_001198944:exon12:c.1038-2A>C;NM_001198942:exon14:c.1209-2A>C;NM_032980:exon12:c.1026-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.1911-2A>C;ENST00000598334:exon19:c.1902-2A>C;ENST00000399121:exon20:c.1923-2A>C;ENST00000399097:exon20:c.1026-2A>C;ENST00000269190:exon23:c.2085-2A>C;ENST00000595022:exon19:c.1902-2A>C;ENST00000598142:exon19:c.1911-2A>C;ENST00000444659:exon20:c.2082-2A>C;ENST00000399113:exon20:c.2082-2A>C;ENST00000601125:exon11:c.948-2A>C;ENST00000269192:exon14:c.1209-2A>C;ENST00000591182:exon12:c.1026-2A>C;ENST00000556414:exon12:c.1038-2A>C;ENST00000590831:exon4:c.360-2A>C)	.	.	0.999969255906173	0.848
18	32462031	A	G	18	34882067	y	y	splicing	DTNA(NM_032975:exon20:c.1911-2A>G;NM_001198940:exon19:c.1902-2A>G;NM_001198939:exon20:c.1923-2A>G;NM_001198938:exon19:c.1902-2A>G;NM_001390:exon20:c.2082-2A>G;NM_001198943:exon11:c.1152-2A>G;NM_001198944:exon12:c.1038-2A>G;NM_001198942:exon14:c.1209-2A>G;NM_032980:exon12:c.1026-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.1911-2A>G;ENST00000598334:exon19:c.1902-2A>G;ENST00000399121:exon20:c.1923-2A>G;ENST00000399097:exon20:c.1026-2A>G;ENST00000269190:exon23:c.2085-2A>G;ENST00000595022:exon19:c.1902-2A>G;ENST00000598142:exon19:c.1911-2A>G;ENST00000444659:exon20:c.2082-2A>G;ENST00000399113:exon20:c.2082-2A>G;ENST00000601125:exon11:c.948-2A>G;ENST00000269192:exon14:c.1209-2A>G;ENST00000591182:exon12:c.1026-2A>G;ENST00000556414:exon12:c.1038-2A>G;ENST00000590831:exon4:c.360-2A>G)	.	.	0.999969255906173	0.848
18	32462031	A	T	18	34882067	y	y	splicing	DTNA(NM_032975:exon20:c.1911-2A>T;NM_001198940:exon19:c.1902-2A>T;NM_001198939:exon20:c.1923-2A>T;NM_001198938:exon19:c.1902-2A>T;NM_001390:exon20:c.2082-2A>T;NM_001198943:exon11:c.1152-2A>T;NM_001198944:exon12:c.1038-2A>T;NM_001198942:exon14:c.1209-2A>T;NM_032980:exon12:c.1026-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.1911-2A>T;ENST00000598334:exon19:c.1902-2A>T;ENST00000399121:exon20:c.1923-2A>T;ENST00000399097:exon20:c.1026-2A>T;ENST00000269190:exon23:c.2085-2A>T;ENST00000595022:exon19:c.1902-2A>T;ENST00000598142:exon19:c.1911-2A>T;ENST00000444659:exon20:c.2082-2A>T;ENST00000399113:exon20:c.2082-2A>T;ENST00000601125:exon11:c.948-2A>T;ENST00000269192:exon14:c.1209-2A>T;ENST00000591182:exon12:c.1026-2A>T;ENST00000556414:exon12:c.1038-2A>T;ENST00000590831:exon4:c.360-2A>T)	.	.	0.999969255906173	0.864
18	32462032	G	A	18	34882068	y	y	splicing	DTNA(NM_032975:exon20:c.1911-1G>A;NM_001198940:exon19:c.1902-1G>A;NM_001198939:exon20:c.1923-1G>A;NM_001198938:exon19:c.1902-1G>A;NM_001390:exon20:c.2082-1G>A;NM_001198943:exon11:c.1152-1G>A;NM_001198944:exon12:c.1038-1G>A;NM_001198942:exon14:c.1209-1G>A;NM_032980:exon12:c.1026-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.1911-1G>A;ENST00000598334:exon19:c.1902-1G>A;ENST00000399121:exon20:c.1923-1G>A;ENST00000399097:exon20:c.1026-1G>A;ENST00000269190:exon23:c.2085-1G>A;ENST00000595022:exon19:c.1902-1G>A;ENST00000598142:exon19:c.1911-1G>A;ENST00000444659:exon20:c.2082-1G>A;ENST00000399113:exon20:c.2082-1G>A;ENST00000601125:exon11:c.948-1G>A;ENST00000269192:exon14:c.1209-1G>A;ENST00000591182:exon12:c.1026-1G>A;ENST00000556414:exon12:c.1038-1G>A;ENST00000590831:exon4:c.360-1G>A)	.	.	0.999971209564868	0.938
18	32462032	G	C	18	34882068	y	y	splicing	DTNA(NM_032975:exon20:c.1911-1G>C;NM_001198940:exon19:c.1902-1G>C;NM_001198939:exon20:c.1923-1G>C;NM_001198938:exon19:c.1902-1G>C;NM_001390:exon20:c.2082-1G>C;NM_001198943:exon11:c.1152-1G>C;NM_001198944:exon12:c.1038-1G>C;NM_001198942:exon14:c.1209-1G>C;NM_032980:exon12:c.1026-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.1911-1G>C;ENST00000598334:exon19:c.1902-1G>C;ENST00000399121:exon20:c.1923-1G>C;ENST00000399097:exon20:c.1026-1G>C;ENST00000269190:exon23:c.2085-1G>C;ENST00000595022:exon19:c.1902-1G>C;ENST00000598142:exon19:c.1911-1G>C;ENST00000444659:exon20:c.2082-1G>C;ENST00000399113:exon20:c.2082-1G>C;ENST00000601125:exon11:c.948-1G>C;ENST00000269192:exon14:c.1209-1G>C;ENST00000591182:exon12:c.1026-1G>C;ENST00000556414:exon12:c.1038-1G>C;ENST00000590831:exon4:c.360-1G>C)	.	.	0.999970205305079	0.936
18	32462032	G	T	18	34882068	y	y	splicing	DTNA(NM_032975:exon20:c.1911-1G>T;NM_001198940:exon19:c.1902-1G>T;NM_001198939:exon20:c.1923-1G>T;NM_001198938:exon19:c.1902-1G>T;NM_001390:exon20:c.2082-1G>T;NM_001198943:exon11:c.1152-1G>T;NM_001198944:exon12:c.1038-1G>T;NM_001198942:exon14:c.1209-1G>T;NM_032980:exon12:c.1026-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.1911-1G>T;ENST00000598334:exon19:c.1902-1G>T;ENST00000399121:exon20:c.1923-1G>T;ENST00000399097:exon20:c.1026-1G>T;ENST00000269190:exon23:c.2085-1G>T;ENST00000595022:exon19:c.1902-1G>T;ENST00000598142:exon19:c.1911-1G>T;ENST00000444659:exon20:c.2082-1G>T;ENST00000399113:exon20:c.2082-1G>T;ENST00000601125:exon11:c.948-1G>T;ENST00000269192:exon14:c.1209-1G>T;ENST00000591182:exon12:c.1026-1G>T;ENST00000556414:exon12:c.1038-1G>T;ENST00000590831:exon4:c.360-1G>T)	.	.	0.999971209564868	0.938
18	32462033	G	A	18	34882069	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.G2082A:p.M694I;DTNA:NM_001198938:exon19:c.G1902A:p.M634I;DTNA:NM_001198943:exon11:c.G1152A:p.M384I;DTNA:NM_001198942:exon14:c.G1209A:p.M403I;DTNA:NM_001198944:exon12:c.G1038A:p.M346I;DTNA:NM_001198940:exon19:c.G1902A:p.M634I;DTNA:NM_001198939:exon20:c.G1923A:p.M641I;DTNA:NM_032980:exon12:c.G1026A:p.M342I;DTNA:NM_032975:exon20:c.G1911A:p.M637I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1026A:p.M342I;ENSG00000134769:ENST00000598334:exon19:c.G1902A:p.M634I;ENSG00000134769:ENST00000595022:exon19:c.G1902A:p.M634I;ENSG00000134769:ENST00000444659:exon20:c.G2082A:p.M694I;ENSG00000134769:ENST00000283365:exon20:c.G1911A:p.M637I;ENSG00000134769:ENST00000399113:exon20:c.G2082A:p.M694I;ENSG00000134769:ENST00000556414:exon12:c.G1038A:p.M346I;ENSG00000134769:ENST00000269190:exon23:c.G2085A:p.M695I;ENSG00000134769:ENST00000399121:exon20:c.G1923A:p.M641I;ENSG00000134769:ENST00000590831:exon4:c.G360A:p.M120I;ENSG00000134769:ENST00000269192:exon14:c.G1209A:p.M403I;ENSG00000134769:ENST00000591182:exon12:c.G1026A:p.M342I;ENSG00000134769:ENST00000598142:exon19:c.G1911A:p.M637I;ENSG00000134769:ENST00000601125:exon11:c.G948A:p.M316I;	6.17807979817604E-4	0.224
18	32462033	G	C	18	34882069	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.G2082C:p.M694I;DTNA:NM_001198938:exon19:c.G1902C:p.M634I;DTNA:NM_001198943:exon11:c.G1152C:p.M384I;DTNA:NM_001198942:exon14:c.G1209C:p.M403I;DTNA:NM_001198944:exon12:c.G1038C:p.M346I;DTNA:NM_001198940:exon19:c.G1902C:p.M634I;DTNA:NM_001198939:exon20:c.G1923C:p.M641I;DTNA:NM_032980:exon12:c.G1026C:p.M342I;DTNA:NM_032975:exon20:c.G1911C:p.M637I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1026C:p.M342I;ENSG00000134769:ENST00000598334:exon19:c.G1902C:p.M634I;ENSG00000134769:ENST00000595022:exon19:c.G1902C:p.M634I;ENSG00000134769:ENST00000444659:exon20:c.G2082C:p.M694I;ENSG00000134769:ENST00000283365:exon20:c.G1911C:p.M637I;ENSG00000134769:ENST00000399113:exon20:c.G2082C:p.M694I;ENSG00000134769:ENST00000556414:exon12:c.G1038C:p.M346I;ENSG00000134769:ENST00000269190:exon23:c.G2085C:p.M695I;ENSG00000134769:ENST00000399121:exon20:c.G1923C:p.M641I;ENSG00000134769:ENST00000590831:exon4:c.G360C:p.M120I;ENSG00000134769:ENST00000269192:exon14:c.G1209C:p.M403I;ENSG00000134769:ENST00000591182:exon12:c.G1026C:p.M342I;ENSG00000134769:ENST00000598142:exon19:c.G1911C:p.M637I;ENSG00000134769:ENST00000601125:exon11:c.G948C:p.M316I;	0.00346475304368354	0.366
18	32462033	G	T	18	34882069	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.G2082T:p.M694I;DTNA:NM_001198938:exon19:c.G1902T:p.M634I;DTNA:NM_001198943:exon11:c.G1152T:p.M384I;DTNA:NM_001198942:exon14:c.G1209T:p.M403I;DTNA:NM_001198944:exon12:c.G1038T:p.M346I;DTNA:NM_001198940:exon19:c.G1902T:p.M634I;DTNA:NM_001198939:exon20:c.G1923T:p.M641I;DTNA:NM_032980:exon12:c.G1026T:p.M342I;DTNA:NM_032975:exon20:c.G1911T:p.M637I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1026T:p.M342I;ENSG00000134769:ENST00000598334:exon19:c.G1902T:p.M634I;ENSG00000134769:ENST00000595022:exon19:c.G1902T:p.M634I;ENSG00000134769:ENST00000444659:exon20:c.G2082T:p.M694I;ENSG00000134769:ENST00000283365:exon20:c.G1911T:p.M637I;ENSG00000134769:ENST00000399113:exon20:c.G2082T:p.M694I;ENSG00000134769:ENST00000556414:exon12:c.G1038T:p.M346I;ENSG00000134769:ENST00000269190:exon23:c.G2085T:p.M695I;ENSG00000134769:ENST00000399121:exon20:c.G1923T:p.M641I;ENSG00000134769:ENST00000590831:exon4:c.G360T:p.M120I;ENSG00000134769:ENST00000269192:exon14:c.G1209T:p.M403I;ENSG00000134769:ENST00000591182:exon12:c.G1026T:p.M342I;ENSG00000134769:ENST00000598142:exon19:c.G1911T:p.M637I;ENSG00000134769:ENST00000601125:exon11:c.G948T:p.M316I;	0.0235266458914467	0.466
18	32462034	G	A	18	34882070	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.G2083A:p.V695I;DTNA:NM_001198938:exon19:c.G1903A:p.V635I;DTNA:NM_001198943:exon11:c.G1153A:p.V385I;DTNA:NM_001198942:exon14:c.G1210A:p.V404I;DTNA:NM_001198944:exon12:c.G1039A:p.V347I;DTNA:NM_001198940:exon19:c.G1903A:p.V635I;DTNA:NM_001198939:exon20:c.G1924A:p.V642I;DTNA:NM_032980:exon12:c.G1027A:p.V343I;DTNA:NM_032975:exon20:c.G1912A:p.V638I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1027A:p.V343I;ENSG00000134769:ENST00000598334:exon19:c.G1903A:p.V635I;ENSG00000134769:ENST00000595022:exon19:c.G1903A:p.V635I;ENSG00000134769:ENST00000444659:exon20:c.G2083A:p.V695I;ENSG00000134769:ENST00000283365:exon20:c.G1912A:p.V638I;ENSG00000134769:ENST00000399113:exon20:c.G2083A:p.V695I;ENSG00000134769:ENST00000556414:exon12:c.G1039A:p.V347I;ENSG00000134769:ENST00000269190:exon23:c.G2086A:p.V696I;ENSG00000134769:ENST00000399121:exon20:c.G1924A:p.V642I;ENSG00000134769:ENST00000590831:exon4:c.G361A:p.V121I;ENSG00000134769:ENST00000269192:exon14:c.G1210A:p.V404I;ENSG00000134769:ENST00000591182:exon12:c.G1027A:p.V343I;ENSG00000134769:ENST00000598142:exon19:c.G1912A:p.V638I;ENSG00000134769:ENST00000601125:exon11:c.G949A:p.V317I;	0.025689910873218	0.11
18	32462034	G	C	18	34882070	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.G2083C:p.V695L;DTNA:NM_001198938:exon19:c.G1903C:p.V635L;DTNA:NM_001198943:exon11:c.G1153C:p.V385L;DTNA:NM_001198942:exon14:c.G1210C:p.V404L;DTNA:NM_001198944:exon12:c.G1039C:p.V347L;DTNA:NM_001198940:exon19:c.G1903C:p.V635L;DTNA:NM_001198939:exon20:c.G1924C:p.V642L;DTNA:NM_032980:exon12:c.G1027C:p.V343L;DTNA:NM_032975:exon20:c.G1912C:p.V638L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1027C:p.V343L;ENSG00000134769:ENST00000598334:exon19:c.G1903C:p.V635L;ENSG00000134769:ENST00000595022:exon19:c.G1903C:p.V635L;ENSG00000134769:ENST00000444659:exon20:c.G2083C:p.V695L;ENSG00000134769:ENST00000283365:exon20:c.G1912C:p.V638L;ENSG00000134769:ENST00000399113:exon20:c.G2083C:p.V695L;ENSG00000134769:ENST00000556414:exon12:c.G1039C:p.V347L;ENSG00000134769:ENST00000269190:exon23:c.G2086C:p.V696L;ENSG00000134769:ENST00000399121:exon20:c.G1924C:p.V642L;ENSG00000134769:ENST00000590831:exon4:c.G361C:p.V121L;ENSG00000134769:ENST00000269192:exon14:c.G1210C:p.V404L;ENSG00000134769:ENST00000591182:exon12:c.G1027C:p.V343L;ENSG00000134769:ENST00000598142:exon19:c.G1912C:p.V638L;ENSG00000134769:ENST00000601125:exon11:c.G949C:p.V317L;	0.0078975967333829	0.194
18	32462034	G	T	18	34882070	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.G2083T:p.V695F;DTNA:NM_001198938:exon19:c.G1903T:p.V635F;DTNA:NM_001198943:exon11:c.G1153T:p.V385F;DTNA:NM_001198942:exon14:c.G1210T:p.V404F;DTNA:NM_001198944:exon12:c.G1039T:p.V347F;DTNA:NM_001198940:exon19:c.G1903T:p.V635F;DTNA:NM_001198939:exon20:c.G1924T:p.V642F;DTNA:NM_032980:exon12:c.G1027T:p.V343F;DTNA:NM_032975:exon20:c.G1912T:p.V638F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1027T:p.V343F;ENSG00000134769:ENST00000598334:exon19:c.G1903T:p.V635F;ENSG00000134769:ENST00000595022:exon19:c.G1903T:p.V635F;ENSG00000134769:ENST00000444659:exon20:c.G2083T:p.V695F;ENSG00000134769:ENST00000283365:exon20:c.G1912T:p.V638F;ENSG00000134769:ENST00000399113:exon20:c.G2083T:p.V695F;ENSG00000134769:ENST00000556414:exon12:c.G1039T:p.V347F;ENSG00000134769:ENST00000269190:exon23:c.G2086T:p.V696F;ENSG00000134769:ENST00000399121:exon20:c.G1924T:p.V642F;ENSG00000134769:ENST00000590831:exon4:c.G361T:p.V121F;ENSG00000134769:ENST00000269192:exon14:c.G1210T:p.V404F;ENSG00000134769:ENST00000591182:exon12:c.G1027T:p.V343F;ENSG00000134769:ENST00000598142:exon19:c.G1912T:p.V638F;ENSG00000134769:ENST00000601125:exon11:c.G949T:p.V317F;	0.85015450131464	0.704
18	32462163	C	A	18	34882199	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.C2212A:p.Q738K;DTNA:NM_001198938:exon19:c.C2032A:p.Q678K;DTNA:NM_001198943:exon11:c.C1282A:p.Q428K;DTNA:NM_001198942:exon14:c.C1339A:p.Q447K;DTNA:NM_001198944:exon12:c.C1168A:p.Q390K;DTNA:NM_001198940:exon19:c.C2032A:p.Q678K;DTNA:NM_001198939:exon20:c.C2053A:p.Q685K;DTNA:NM_032980:exon12:c.C1156A:p.Q386K;DTNA:NM_032975:exon20:c.C2041A:p.Q681K;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.C1156A:p.Q386K;ENSG00000134769:ENST00000598334:exon19:c.C2032A:p.Q678K;ENSG00000134769:ENST00000595022:exon19:c.C2032A:p.Q678K;ENSG00000134769:ENST00000444659:exon20:c.C2212A:p.Q738K;ENSG00000134769:ENST00000283365:exon20:c.C2041A:p.Q681K;ENSG00000134769:ENST00000399113:exon20:c.C2212A:p.Q738K;ENSG00000134769:ENST00000556414:exon12:c.C1168A:p.Q390K;ENSG00000134769:ENST00000269190:exon23:c.C2215A:p.Q739K;ENSG00000134769:ENST00000399121:exon20:c.C2053A:p.Q685K;ENSG00000134769:ENST00000590831:exon4:c.C490A:p.Q164K;ENSG00000134769:ENST00000269192:exon14:c.C1339A:p.Q447K;ENSG00000134769:ENST00000591182:exon12:c.C1156A:p.Q386K;ENSG00000134769:ENST00000598142:exon19:c.C2041A:p.Q681K;ENSG00000134769:ENST00000601125:exon11:c.C1078A:p.Q360K;	0.962507696427294	0.772
18	32462163	C	G	18	34882199	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.C2212G:p.Q738E;DTNA:NM_001198938:exon19:c.C2032G:p.Q678E;DTNA:NM_001198943:exon11:c.C1282G:p.Q428E;DTNA:NM_001198942:exon14:c.C1339G:p.Q447E;DTNA:NM_001198944:exon12:c.C1168G:p.Q390E;DTNA:NM_001198940:exon19:c.C2032G:p.Q678E;DTNA:NM_001198939:exon20:c.C2053G:p.Q685E;DTNA:NM_032980:exon12:c.C1156G:p.Q386E;DTNA:NM_032975:exon20:c.C2041G:p.Q681E;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.C1156G:p.Q386E;ENSG00000134769:ENST00000598334:exon19:c.C2032G:p.Q678E;ENSG00000134769:ENST00000595022:exon19:c.C2032G:p.Q678E;ENSG00000134769:ENST00000444659:exon20:c.C2212G:p.Q738E;ENSG00000134769:ENST00000283365:exon20:c.C2041G:p.Q681E;ENSG00000134769:ENST00000399113:exon20:c.C2212G:p.Q738E;ENSG00000134769:ENST00000556414:exon12:c.C1168G:p.Q390E;ENSG00000134769:ENST00000269190:exon23:c.C2215G:p.Q739E;ENSG00000134769:ENST00000399121:exon20:c.C2053G:p.Q685E;ENSG00000134769:ENST00000590831:exon4:c.C490G:p.Q164E;ENSG00000134769:ENST00000269192:exon14:c.C1339G:p.Q447E;ENSG00000134769:ENST00000591182:exon12:c.C1156G:p.Q386E;ENSG00000134769:ENST00000598142:exon19:c.C2041G:p.Q681E;ENSG00000134769:ENST00000601125:exon11:c.C1078G:p.Q360E;	0.978576289464434	0.696
18	32462163	C	T	18	34882199	y	y	exonic	DTNA	stopgain SNV	DTNA:NM_001390:exon20:c.C2212T:p.Q738X;DTNA:NM_001198938:exon19:c.C2032T:p.Q678X;DTNA:NM_001198943:exon11:c.C1282T:p.Q428X;DTNA:NM_001198942:exon14:c.C1339T:p.Q447X;DTNA:NM_001198944:exon12:c.C1168T:p.Q390X;DTNA:NM_001198940:exon19:c.C2032T:p.Q678X;DTNA:NM_001198939:exon20:c.C2053T:p.Q685X;DTNA:NM_032980:exon12:c.C1156T:p.Q386X;DTNA:NM_032975:exon20:c.C2041T:p.Q681X;	exonic	ENSG00000134769	stopgain SNV	ENSG00000134769:ENST00000399097:exon20:c.C1156T:p.Q386X;ENSG00000134769:ENST00000598334:exon19:c.C2032T:p.Q678X;ENSG00000134769:ENST00000595022:exon19:c.C2032T:p.Q678X;ENSG00000134769:ENST00000444659:exon20:c.C2212T:p.Q738X;ENSG00000134769:ENST00000283365:exon20:c.C2041T:p.Q681X;ENSG00000134769:ENST00000399113:exon20:c.C2212T:p.Q738X;ENSG00000134769:ENST00000556414:exon12:c.C1168T:p.Q390X;ENSG00000134769:ENST00000269190:exon23:c.C2215T:p.Q739X;ENSG00000134769:ENST00000399121:exon20:c.C2053T:p.Q685X;ENSG00000134769:ENST00000590831:exon4:c.C490T:p.Q164X;ENSG00000134769:ENST00000269192:exon14:c.C1339T:p.Q447X;ENSG00000134769:ENST00000591182:exon12:c.C1156T:p.Q386X;ENSG00000134769:ENST00000598142:exon19:c.C2041T:p.Q681X;ENSG00000134769:ENST00000601125:exon11:c.C1078T:p.Q360X;	0.99990419825549	0.978
18	32462164	A	C	18	34882200	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.A2213C:p.Q738P;DTNA:NM_001198938:exon19:c.A2033C:p.Q678P;DTNA:NM_001198943:exon11:c.A1283C:p.Q428P;DTNA:NM_001198942:exon14:c.A1340C:p.Q447P;DTNA:NM_001198944:exon12:c.A1169C:p.Q390P;DTNA:NM_001198940:exon19:c.A2033C:p.Q678P;DTNA:NM_001198939:exon20:c.A2054C:p.Q685P;DTNA:NM_032980:exon12:c.A1157C:p.Q386P;DTNA:NM_032975:exon20:c.A2042C:p.Q681P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.A1157C:p.Q386P;ENSG00000134769:ENST00000598334:exon19:c.A2033C:p.Q678P;ENSG00000134769:ENST00000595022:exon19:c.A2033C:p.Q678P;ENSG00000134769:ENST00000444659:exon20:c.A2213C:p.Q738P;ENSG00000134769:ENST00000283365:exon20:c.A2042C:p.Q681P;ENSG00000134769:ENST00000399113:exon20:c.A2213C:p.Q738P;ENSG00000134769:ENST00000556414:exon12:c.A1169C:p.Q390P;ENSG00000134769:ENST00000269190:exon23:c.A2216C:p.Q739P;ENSG00000134769:ENST00000399121:exon20:c.A2054C:p.Q685P;ENSG00000134769:ENST00000590831:exon4:c.A491C:p.Q164P;ENSG00000134769:ENST00000269192:exon14:c.A1340C:p.Q447P;ENSG00000134769:ENST00000591182:exon12:c.A1157C:p.Q386P;ENSG00000134769:ENST00000598142:exon19:c.A2042C:p.Q681P;ENSG00000134769:ENST00000601125:exon11:c.A1079C:p.Q360P;	0.999866260909457	1.0
18	32462164	A	G	18	34882200	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.A2213G:p.Q738R;DTNA:NM_001198938:exon19:c.A2033G:p.Q678R;DTNA:NM_001198943:exon11:c.A1283G:p.Q428R;DTNA:NM_001198942:exon14:c.A1340G:p.Q447R;DTNA:NM_001198944:exon12:c.A1169G:p.Q390R;DTNA:NM_001198940:exon19:c.A2033G:p.Q678R;DTNA:NM_001198939:exon20:c.A2054G:p.Q685R;DTNA:NM_032980:exon12:c.A1157G:p.Q386R;DTNA:NM_032975:exon20:c.A2042G:p.Q681R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.A1157G:p.Q386R;ENSG00000134769:ENST00000598334:exon19:c.A2033G:p.Q678R;ENSG00000134769:ENST00000595022:exon19:c.A2033G:p.Q678R;ENSG00000134769:ENST00000444659:exon20:c.A2213G:p.Q738R;ENSG00000134769:ENST00000283365:exon20:c.A2042G:p.Q681R;ENSG00000134769:ENST00000399113:exon20:c.A2213G:p.Q738R;ENSG00000134769:ENST00000556414:exon12:c.A1169G:p.Q390R;ENSG00000134769:ENST00000269190:exon23:c.A2216G:p.Q739R;ENSG00000134769:ENST00000399121:exon20:c.A2054G:p.Q685R;ENSG00000134769:ENST00000590831:exon4:c.A491G:p.Q164R;ENSG00000134769:ENST00000269192:exon14:c.A1340G:p.Q447R;ENSG00000134769:ENST00000591182:exon12:c.A1157G:p.Q386R;ENSG00000134769:ENST00000598142:exon19:c.A2042G:p.Q681R;ENSG00000134769:ENST00000601125:exon11:c.A1079G:p.Q360R;	0.999882125362262	1.0
18	32462164	A	T	18	34882200	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.A2213T:p.Q738L;DTNA:NM_001198938:exon19:c.A2033T:p.Q678L;DTNA:NM_001198943:exon11:c.A1283T:p.Q428L;DTNA:NM_001198942:exon14:c.A1340T:p.Q447L;DTNA:NM_001198944:exon12:c.A1169T:p.Q390L;DTNA:NM_001198940:exon19:c.A2033T:p.Q678L;DTNA:NM_001198939:exon20:c.A2054T:p.Q685L;DTNA:NM_032980:exon12:c.A1157T:p.Q386L;DTNA:NM_032975:exon20:c.A2042T:p.Q681L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.A1157T:p.Q386L;ENSG00000134769:ENST00000598334:exon19:c.A2033T:p.Q678L;ENSG00000134769:ENST00000595022:exon19:c.A2033T:p.Q678L;ENSG00000134769:ENST00000444659:exon20:c.A2213T:p.Q738L;ENSG00000134769:ENST00000283365:exon20:c.A2042T:p.Q681L;ENSG00000134769:ENST00000399113:exon20:c.A2213T:p.Q738L;ENSG00000134769:ENST00000556414:exon12:c.A1169T:p.Q390L;ENSG00000134769:ENST00000269190:exon23:c.A2216T:p.Q739L;ENSG00000134769:ENST00000399121:exon20:c.A2054T:p.Q685L;ENSG00000134769:ENST00000590831:exon4:c.A491T:p.Q164L;ENSG00000134769:ENST00000269192:exon14:c.A1340T:p.Q447L;ENSG00000134769:ENST00000591182:exon12:c.A1157T:p.Q386L;ENSG00000134769:ENST00000598142:exon19:c.A2042T:p.Q681L;ENSG00000134769:ENST00000601125:exon11:c.A1079T:p.Q360L;	0.999909915161114	0.988
18	32462165	G	A	18	34882201	y	y	exonic	DTNA	synonymous SNV	DTNA:NM_001390:exon20:c.G2214A:p.Q738Q;DTNA:NM_001198938:exon19:c.G2034A:p.Q678Q;DTNA:NM_001198943:exon11:c.G1284A:p.Q428Q;DTNA:NM_001198942:exon14:c.G1341A:p.Q447Q;DTNA:NM_001198944:exon12:c.G1170A:p.Q390Q;DTNA:NM_001198940:exon19:c.G2034A:p.Q678Q;DTNA:NM_001198939:exon20:c.G2055A:p.Q685Q;DTNA:NM_032980:exon12:c.G1158A:p.Q386Q;DTNA:NM_032975:exon20:c.G2043A:p.Q681Q;	exonic	ENSG00000134769	synonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1158A:p.Q386Q;ENSG00000134769:ENST00000598334:exon19:c.G2034A:p.Q678Q;ENSG00000134769:ENST00000595022:exon19:c.G2034A:p.Q678Q;ENSG00000134769:ENST00000444659:exon20:c.G2214A:p.Q738Q;ENSG00000134769:ENST00000283365:exon20:c.G2043A:p.Q681Q;ENSG00000134769:ENST00000399113:exon20:c.G2214A:p.Q738Q;ENSG00000134769:ENST00000556414:exon12:c.G1170A:p.Q390Q;ENSG00000134769:ENST00000269190:exon23:c.G2217A:p.Q739Q;ENSG00000134769:ENST00000399121:exon20:c.G2055A:p.Q685Q;ENSG00000134769:ENST00000590831:exon4:c.G492A:p.Q164Q;ENSG00000134769:ENST00000269192:exon14:c.G1341A:p.Q447Q;ENSG00000134769:ENST00000591182:exon12:c.G1158A:p.Q386Q;ENSG00000134769:ENST00000598142:exon19:c.G2043A:p.Q681Q;ENSG00000134769:ENST00000601125:exon11:c.G1080A:p.Q360Q;	0.999985066432126	0.986
18	32462165	G	C	18	34882201	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.G2214C:p.Q738H;DTNA:NM_001198938:exon19:c.G2034C:p.Q678H;DTNA:NM_001198943:exon11:c.G1284C:p.Q428H;DTNA:NM_001198942:exon14:c.G1341C:p.Q447H;DTNA:NM_001198944:exon12:c.G1170C:p.Q390H;DTNA:NM_001198940:exon19:c.G2034C:p.Q678H;DTNA:NM_001198939:exon20:c.G2055C:p.Q685H;DTNA:NM_032980:exon12:c.G1158C:p.Q386H;DTNA:NM_032975:exon20:c.G2043C:p.Q681H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1158C:p.Q386H;ENSG00000134769:ENST00000598334:exon19:c.G2034C:p.Q678H;ENSG00000134769:ENST00000595022:exon19:c.G2034C:p.Q678H;ENSG00000134769:ENST00000444659:exon20:c.G2214C:p.Q738H;ENSG00000134769:ENST00000283365:exon20:c.G2043C:p.Q681H;ENSG00000134769:ENST00000399113:exon20:c.G2214C:p.Q738H;ENSG00000134769:ENST00000556414:exon12:c.G1170C:p.Q390H;ENSG00000134769:ENST00000269190:exon23:c.G2217C:p.Q739H;ENSG00000134769:ENST00000399121:exon20:c.G2055C:p.Q685H;ENSG00000134769:ENST00000590831:exon4:c.G492C:p.Q164H;ENSG00000134769:ENST00000269192:exon14:c.G1341C:p.Q447H;ENSG00000134769:ENST00000591182:exon12:c.G1158C:p.Q386H;ENSG00000134769:ENST00000598142:exon19:c.G2043C:p.Q681H;ENSG00000134769:ENST00000601125:exon11:c.G1080C:p.Q360H;	0.999997360428448	1.0
18	32462165	G	T	18	34882201	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon20:c.G2214T:p.Q738H;DTNA:NM_001198938:exon19:c.G2034T:p.Q678H;DTNA:NM_001198943:exon11:c.G1284T:p.Q428H;DTNA:NM_001198942:exon14:c.G1341T:p.Q447H;DTNA:NM_001198944:exon12:c.G1170T:p.Q390H;DTNA:NM_001198940:exon19:c.G2034T:p.Q678H;DTNA:NM_001198939:exon20:c.G2055T:p.Q685H;DTNA:NM_032980:exon12:c.G1158T:p.Q386H;DTNA:NM_032975:exon20:c.G2043T:p.Q681H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon20:c.G1158T:p.Q386H;ENSG00000134769:ENST00000598334:exon19:c.G2034T:p.Q678H;ENSG00000134769:ENST00000595022:exon19:c.G2034T:p.Q678H;ENSG00000134769:ENST00000444659:exon20:c.G2214T:p.Q738H;ENSG00000134769:ENST00000283365:exon20:c.G2043T:p.Q681H;ENSG00000134769:ENST00000399113:exon20:c.G2214T:p.Q738H;ENSG00000134769:ENST00000556414:exon12:c.G1170T:p.Q390H;ENSG00000134769:ENST00000269190:exon23:c.G2217T:p.Q739H;ENSG00000134769:ENST00000399121:exon20:c.G2055T:p.Q685H;ENSG00000134769:ENST00000590831:exon4:c.G492T:p.Q164H;ENSG00000134769:ENST00000269192:exon14:c.G1341T:p.Q447H;ENSG00000134769:ENST00000591182:exon12:c.G1158T:p.Q386H;ENSG00000134769:ENST00000598142:exon19:c.G2043T:p.Q681H;ENSG00000134769:ENST00000601125:exon11:c.G1080T:p.Q360H;	0.999995009246243	1.0
18	32462166	G	A	18	34882202	y	y	splicing	DTNA(NM_032975:exon20:c.2043+1G>A;NM_001198940:exon19:c.2034+1G>A;NM_001198939:exon20:c.2055+1G>A;NM_001198938:exon19:c.2034+1G>A;NM_001390:exon20:c.2214+1G>A;NM_001198943:exon11:c.1284+1G>A;NM_001198944:exon12:c.1170+1G>A;NM_001198942:exon14:c.1341+1G>A;NM_032980:exon12:c.1158+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.2043+1G>A;ENST00000598334:exon19:c.2034+1G>A;ENST00000399121:exon20:c.2055+1G>A;ENST00000399097:exon20:c.1158+1G>A;ENST00000269190:exon23:c.2217+1G>A;ENST00000595022:exon19:c.2034+1G>A;ENST00000598142:exon19:c.2043+1G>A;ENST00000444659:exon20:c.2214+1G>A;ENST00000399113:exon20:c.2214+1G>A;ENST00000601125:exon11:c.1080+1G>A;ENST00000269192:exon14:c.1341+1G>A;ENST00000591182:exon12:c.1158+1G>A;ENST00000556414:exon12:c.1170+1G>A;ENST00000590831:exon4:c.492+1G>A)	.	.	0.999990361384395	0.936
18	32462166	G	C	18	34882202	y	y	splicing	DTNA(NM_032975:exon20:c.2043+1G>C;NM_001198940:exon19:c.2034+1G>C;NM_001198939:exon20:c.2055+1G>C;NM_001198938:exon19:c.2034+1G>C;NM_001390:exon20:c.2214+1G>C;NM_001198943:exon11:c.1284+1G>C;NM_001198944:exon12:c.1170+1G>C;NM_001198942:exon14:c.1341+1G>C;NM_032980:exon12:c.1158+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.2043+1G>C;ENST00000598334:exon19:c.2034+1G>C;ENST00000399121:exon20:c.2055+1G>C;ENST00000399097:exon20:c.1158+1G>C;ENST00000269190:exon23:c.2217+1G>C;ENST00000595022:exon19:c.2034+1G>C;ENST00000598142:exon19:c.2043+1G>C;ENST00000444659:exon20:c.2214+1G>C;ENST00000399113:exon20:c.2214+1G>C;ENST00000601125:exon11:c.1080+1G>C;ENST00000269192:exon14:c.1341+1G>C;ENST00000591182:exon12:c.1158+1G>C;ENST00000556414:exon12:c.1170+1G>C;ENST00000590831:exon4:c.492+1G>C)	.	.	0.999990361384395	0.938
18	32462166	G	T	18	34882202	y	y	splicing	DTNA(NM_032975:exon20:c.2043+1G>T;NM_001198940:exon19:c.2034+1G>T;NM_001198939:exon20:c.2055+1G>T;NM_001198938:exon19:c.2034+1G>T;NM_001390:exon20:c.2214+1G>T;NM_001198943:exon11:c.1284+1G>T;NM_001198944:exon12:c.1170+1G>T;NM_001198942:exon14:c.1341+1G>T;NM_032980:exon12:c.1158+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.2043+1G>T;ENST00000598334:exon19:c.2034+1G>T;ENST00000399121:exon20:c.2055+1G>T;ENST00000399097:exon20:c.1158+1G>T;ENST00000269190:exon23:c.2217+1G>T;ENST00000595022:exon19:c.2034+1G>T;ENST00000598142:exon19:c.2043+1G>T;ENST00000444659:exon20:c.2214+1G>T;ENST00000399113:exon20:c.2214+1G>T;ENST00000601125:exon11:c.1080+1G>T;ENST00000269192:exon14:c.1341+1G>T;ENST00000591182:exon12:c.1158+1G>T;ENST00000556414:exon12:c.1170+1G>T;ENST00000590831:exon4:c.492+1G>T)	.	.	0.999990361384395	0.928
18	32462167	T	A	18	34882203	y	y	splicing	DTNA(NM_032975:exon20:c.2043+2T>A;NM_001198940:exon19:c.2034+2T>A;NM_001198939:exon20:c.2055+2T>A;NM_001198938:exon19:c.2034+2T>A;NM_001390:exon20:c.2214+2T>A;NM_001198943:exon11:c.1284+2T>A;NM_001198944:exon12:c.1170+2T>A;NM_001198942:exon14:c.1341+2T>A;NM_032980:exon12:c.1158+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.2043+2T>A;ENST00000598334:exon19:c.2034+2T>A;ENST00000399121:exon20:c.2055+2T>A;ENST00000399097:exon20:c.1158+2T>A;ENST00000269190:exon23:c.2217+2T>A;ENST00000595022:exon19:c.2034+2T>A;ENST00000598142:exon19:c.2043+2T>A;ENST00000444659:exon20:c.2214+2T>A;ENST00000399113:exon20:c.2214+2T>A;ENST00000601125:exon11:c.1080+2T>A;ENST00000269192:exon14:c.1341+2T>A;ENST00000591182:exon12:c.1158+2T>A;ENST00000556414:exon12:c.1170+2T>A;ENST00000590831:exon4:c.492+2T>A)	.	.	0.999988247793601	0.916
18	32462167	T	C	18	34882203	y	y	splicing	DTNA(NM_032975:exon20:c.2043+2T>C;NM_001198940:exon19:c.2034+2T>C;NM_001198939:exon20:c.2055+2T>C;NM_001198938:exon19:c.2034+2T>C;NM_001390:exon20:c.2214+2T>C;NM_001198943:exon11:c.1284+2T>C;NM_001198944:exon12:c.1170+2T>C;NM_001198942:exon14:c.1341+2T>C;NM_032980:exon12:c.1158+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.2043+2T>C;ENST00000598334:exon19:c.2034+2T>C;ENST00000399121:exon20:c.2055+2T>C;ENST00000399097:exon20:c.1158+2T>C;ENST00000269190:exon23:c.2217+2T>C;ENST00000595022:exon19:c.2034+2T>C;ENST00000598142:exon19:c.2043+2T>C;ENST00000444659:exon20:c.2214+2T>C;ENST00000399113:exon20:c.2214+2T>C;ENST00000601125:exon11:c.1080+2T>C;ENST00000269192:exon14:c.1341+2T>C;ENST00000591182:exon12:c.1158+2T>C;ENST00000556414:exon12:c.1170+2T>C;ENST00000590831:exon4:c.492+2T>C)	.	.	0.994731650058242	0.702
18	32462167	T	G	18	34882203	y	y	splicing	DTNA(NM_032975:exon20:c.2043+2T>G;NM_001198940:exon19:c.2034+2T>G;NM_001198939:exon20:c.2055+2T>G;NM_001198938:exon19:c.2034+2T>G;NM_001390:exon20:c.2214+2T>G;NM_001198943:exon11:c.1284+2T>G;NM_001198944:exon12:c.1170+2T>G;NM_001198942:exon14:c.1341+2T>G;NM_032980:exon12:c.1158+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon20:c.2043+2T>G;ENST00000598334:exon19:c.2034+2T>G;ENST00000399121:exon20:c.2055+2T>G;ENST00000399097:exon20:c.1158+2T>G;ENST00000269190:exon23:c.2217+2T>G;ENST00000595022:exon19:c.2034+2T>G;ENST00000598142:exon19:c.2043+2T>G;ENST00000444659:exon20:c.2214+2T>G;ENST00000399113:exon20:c.2214+2T>G;ENST00000601125:exon11:c.1080+2T>G;ENST00000269192:exon14:c.1341+2T>G;ENST00000591182:exon12:c.1158+2T>G;ENST00000556414:exon12:c.1170+2T>G;ENST00000590831:exon4:c.492+2T>G)	.	.	0.999988247793601	0.928
18	32462168	A	C	18	34882204	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999833851334296	0.924
18	32462168	A	G	18	34882204	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.996131742035625	0.844
18	32462168	A	T	18	34882204	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999846204708678	0.956
18	32462169	C	A	18	34882205	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.95894694934443E-4	0.016
18	32462169	C	G	18	34882205	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.85938791899592E-4	0.024
18	32462169	C	T	18	34882205	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.4852689830179E-4	0.078
18	32462170	A	C	18	34882206	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	6.48519804945089E-5	0.014
18	32462170	A	G	18	34882206	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.30931361576931E-5	0.02
18	32462170	A	T	18	34882206	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.07433412690272E-5	0.006
18	32462171	G	A	18	34882207	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	7.40089354930033E-4	0.068
18	32462171	G	C	18	34882207	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	3.63267348486861E-4	0.034
18	32462171	G	T	18	34882207	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.50378384150108E-4	0.04
18	32462172	G	A	18	34882208	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	2.39038443697797E-4	0.058
18	32462172	G	C	18	34882208	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.73752450445156E-4	0.004
18	32462172	G	T	18	34882208	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.13408409378064E-4	0.004
18	32462173	G	A	18	34882209	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.07769740642319E-4	0.0
18	32462173	G	C	18	34882209	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.23309308962258E-5	0.0
18	32462173	G	T	18	34882209	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.3683796645191E-4	0.002
18	32464680	T	A	18	34884716	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999968363689676	0.956
18	32464680	T	C	18	34884716	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.500438856592335	0.516
18	32464680	T	G	18	34884716	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998392650251516	0.898
18	32464681	G	A	18	34884717	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.549703008998238	0.612
18	32464681	G	C	18	34884717	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.66573073049026	0.594
18	32464681	G	T	18	34884717	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.554416053125906	0.582
18	32464682	T	A	18	34884718	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997558310236429	0.89
18	32464682	T	C	18	34884718	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.575742909314842	0.544
18	32464682	T	G	18	34884718	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997532429870385	0.908
18	32464683	C	A	18	34884719	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0871321941049647	0.326
18	32464683	C	G	18	34884719	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.108704483349333	0.326
18	32464683	C	T	18	34884719	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.372268934085669	0.572
18	32464684	A	C	18	34884720	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.502438238025637	0.554
18	32464684	A	G	18	34884720	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.760519307267132	0.674
18	32464684	A	T	18	34884720	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.439233714023971	0.58
18	32464685	C	A	18	34884721	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0996706415706437	0.282
18	32464685	C	G	18	34884721	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999811014072403	0.94
18	32464685	C	T	18	34884721	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0132653609991309	0.144
18	32464686	C	A	18	34884722	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.986877279076144	0.722
18	32464686	C	G	18	34884722	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.972707098298428	0.678
18	32464686	C	T	18	34884722	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.404226945671342	0.444
18	32464687	C	A	18	34884723	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.017789672631031	0.138
18	32464687	C	G	18	34884723	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0125830713323874	0.136
18	32464687	C	T	18	34884723	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00191103327268331	0.038
18	32464688	A	C	18	34884724	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	8.82362215158851E-5	0.002
18	32464688	A	G	18	34884724	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.29896318257461E-5	0.008
18	32464688	A	T	18	34884724	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.73360763056117E-4	0.016
18	32464689	C	A	18	34884725	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999770772470223	0.948
18	32464689	C	G	18	34884725	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999959131443684	0.982
18	32464689	C	T	18	34884725	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.964479233084811	0.384
18	32464690	A	C	18	34884726	y	y	splicing	DTNA(NM_032975:exon21:c.2044-2A>C;NM_001198940:exon20:c.2035-2A>C;NM_001198939:exon21:c.2056-2A>C;NM_001390:exon21:c.2215-2A>C;NM_001198943:exon12:c.1285-2A>C;NM_001198944:exon13:c.1171-2A>C;NM_001198942:exon15:c.1342-2A>C;NM_032980:exon13:c.1159-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2044-2A>C;ENST00000399121:exon21:c.2056-2A>C;ENST00000399097:exon21:c.1159-2A>C;ENST00000269190:exon24:c.2218-2A>C;ENST00000595022:exon20:c.2035-2A>C;ENST00000598142:exon20:c.2044-2A>C;ENST00000444659:exon21:c.2215-2A>C;ENST00000399113:exon21:c.2215-2A>C;ENST00000601125:exon12:c.1081-2A>C;ENST00000269192:exon15:c.1342-2A>C;ENST00000591182:exon13:c.1159-2A>C;ENST00000556414:exon13:c.1171-2A>C;ENST00000590831:exon5:c.493-2A>C)	.	.	0.999988247793601	0.93
18	32464690	A	G	18	34884726	y	y	splicing	DTNA(NM_032975:exon21:c.2044-2A>G;NM_001198940:exon20:c.2035-2A>G;NM_001198939:exon21:c.2056-2A>G;NM_001390:exon21:c.2215-2A>G;NM_001198943:exon12:c.1285-2A>G;NM_001198944:exon13:c.1171-2A>G;NM_001198942:exon15:c.1342-2A>G;NM_032980:exon13:c.1159-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2044-2A>G;ENST00000399121:exon21:c.2056-2A>G;ENST00000399097:exon21:c.1159-2A>G;ENST00000269190:exon24:c.2218-2A>G;ENST00000595022:exon20:c.2035-2A>G;ENST00000598142:exon20:c.2044-2A>G;ENST00000444659:exon21:c.2215-2A>G;ENST00000399113:exon21:c.2215-2A>G;ENST00000601125:exon12:c.1081-2A>G;ENST00000269192:exon15:c.1342-2A>G;ENST00000591182:exon13:c.1159-2A>G;ENST00000556414:exon13:c.1171-2A>G;ENST00000590831:exon5:c.493-2A>G)	.	.	0.999988247793601	0.93
18	32464690	A	T	18	34884726	y	y	splicing	DTNA(NM_032975:exon21:c.2044-2A>T;NM_001198940:exon20:c.2035-2A>T;NM_001198939:exon21:c.2056-2A>T;NM_001390:exon21:c.2215-2A>T;NM_001198943:exon12:c.1285-2A>T;NM_001198944:exon13:c.1171-2A>T;NM_001198942:exon15:c.1342-2A>T;NM_032980:exon13:c.1159-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2044-2A>T;ENST00000399121:exon21:c.2056-2A>T;ENST00000399097:exon21:c.1159-2A>T;ENST00000269190:exon24:c.2218-2A>T;ENST00000595022:exon20:c.2035-2A>T;ENST00000598142:exon20:c.2044-2A>T;ENST00000444659:exon21:c.2215-2A>T;ENST00000399113:exon21:c.2215-2A>T;ENST00000601125:exon12:c.1081-2A>T;ENST00000269192:exon15:c.1342-2A>T;ENST00000591182:exon13:c.1159-2A>T;ENST00000556414:exon13:c.1171-2A>T;ENST00000590831:exon5:c.493-2A>T)	.	.	0.999988247793601	0.93
18	32464691	G	A	18	34884727	y	y	splicing	DTNA(NM_032975:exon21:c.2044-1G>A;NM_001198940:exon20:c.2035-1G>A;NM_001198939:exon21:c.2056-1G>A;NM_001390:exon21:c.2215-1G>A;NM_001198943:exon12:c.1285-1G>A;NM_001198944:exon13:c.1171-1G>A;NM_001198942:exon15:c.1342-1G>A;NM_032980:exon13:c.1159-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2044-1G>A;ENST00000399121:exon21:c.2056-1G>A;ENST00000399097:exon21:c.1159-1G>A;ENST00000269190:exon24:c.2218-1G>A;ENST00000595022:exon20:c.2035-1G>A;ENST00000598142:exon20:c.2044-1G>A;ENST00000444659:exon21:c.2215-1G>A;ENST00000399113:exon21:c.2215-1G>A;ENST00000601125:exon12:c.1081-1G>A;ENST00000269192:exon15:c.1342-1G>A;ENST00000591182:exon13:c.1159-1G>A;ENST00000556414:exon13:c.1171-1G>A;ENST00000590831:exon5:c.493-1G>A)	.	.	0.999989072007339	0.934
18	32464691	G	C	18	34884727	y	y	splicing	DTNA(NM_032975:exon21:c.2044-1G>C;NM_001198940:exon20:c.2035-1G>C;NM_001198939:exon21:c.2056-1G>C;NM_001390:exon21:c.2215-1G>C;NM_001198943:exon12:c.1285-1G>C;NM_001198944:exon13:c.1171-1G>C;NM_001198942:exon15:c.1342-1G>C;NM_032980:exon13:c.1159-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2044-1G>C;ENST00000399121:exon21:c.2056-1G>C;ENST00000399097:exon21:c.1159-1G>C;ENST00000269190:exon24:c.2218-1G>C;ENST00000595022:exon20:c.2035-1G>C;ENST00000598142:exon20:c.2044-1G>C;ENST00000444659:exon21:c.2215-1G>C;ENST00000399113:exon21:c.2215-1G>C;ENST00000601125:exon12:c.1081-1G>C;ENST00000269192:exon15:c.1342-1G>C;ENST00000591182:exon13:c.1159-1G>C;ENST00000556414:exon13:c.1171-1G>C;ENST00000590831:exon5:c.493-1G>C)	.	.	0.999989072007339	0.934
18	32464691	G	T	18	34884727	y	y	splicing	DTNA(NM_032975:exon21:c.2044-1G>T;NM_001198940:exon20:c.2035-1G>T;NM_001198939:exon21:c.2056-1G>T;NM_001390:exon21:c.2215-1G>T;NM_001198943:exon12:c.1285-1G>T;NM_001198944:exon13:c.1171-1G>T;NM_001198942:exon15:c.1342-1G>T;NM_032980:exon13:c.1159-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2044-1G>T;ENST00000399121:exon21:c.2056-1G>T;ENST00000399097:exon21:c.1159-1G>T;ENST00000269190:exon24:c.2218-1G>T;ENST00000595022:exon20:c.2035-1G>T;ENST00000598142:exon20:c.2044-1G>T;ENST00000444659:exon21:c.2215-1G>T;ENST00000399113:exon21:c.2215-1G>T;ENST00000601125:exon12:c.1081-1G>T;ENST00000269192:exon15:c.1342-1G>T;ENST00000591182:exon13:c.1159-1G>T;ENST00000556414:exon13:c.1171-1G>T;ENST00000590831:exon5:c.493-1G>T)	.	.	0.999989072007339	0.934
18	32464692	G	A	18	34884728	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon21:c.G2215A:p.V739I;DTNA:NM_001198943:exon12:c.G1285A:p.V429I;DTNA:NM_001198942:exon15:c.G1342A:p.V448I;DTNA:NM_001198944:exon13:c.G1171A:p.V391I;DTNA:NM_001198940:exon20:c.G2035A:p.V679I;DTNA:NM_001198939:exon21:c.G2056A:p.V686I;DTNA:NM_032980:exon13:c.G1159A:p.V387I;DTNA:NM_032975:exon21:c.G2044A:p.V682I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon21:c.G1159A:p.V387I;ENSG00000134769:ENST00000595022:exon20:c.G2035A:p.V679I;ENSG00000134769:ENST00000444659:exon21:c.G2215A:p.V739I;ENSG00000134769:ENST00000283365:exon21:c.G2044A:p.V682I;ENSG00000134769:ENST00000399113:exon21:c.G2215A:p.V739I;ENSG00000134769:ENST00000556414:exon13:c.G1171A:p.V391I;ENSG00000134769:ENST00000269190:exon24:c.G2218A:p.V740I;ENSG00000134769:ENST00000399121:exon21:c.G2056A:p.V686I;ENSG00000134769:ENST00000590831:exon5:c.G493A:p.V165I;ENSG00000134769:ENST00000269192:exon15:c.G1342A:p.V448I;ENSG00000134769:ENST00000591182:exon13:c.G1159A:p.V387I;ENSG00000134769:ENST00000598142:exon20:c.G2044A:p.V682I;ENSG00000134769:ENST00000601125:exon12:c.G1081A:p.V361I;	0.998802402569257	0.816
18	32464692	G	C	18	34884728	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon21:c.G2215C:p.V739L;DTNA:NM_001198943:exon12:c.G1285C:p.V429L;DTNA:NM_001198942:exon15:c.G1342C:p.V448L;DTNA:NM_001198944:exon13:c.G1171C:p.V391L;DTNA:NM_001198940:exon20:c.G2035C:p.V679L;DTNA:NM_001198939:exon21:c.G2056C:p.V686L;DTNA:NM_032980:exon13:c.G1159C:p.V387L;DTNA:NM_032975:exon21:c.G2044C:p.V682L;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon21:c.G1159C:p.V387L;ENSG00000134769:ENST00000595022:exon20:c.G2035C:p.V679L;ENSG00000134769:ENST00000444659:exon21:c.G2215C:p.V739L;ENSG00000134769:ENST00000283365:exon21:c.G2044C:p.V682L;ENSG00000134769:ENST00000399113:exon21:c.G2215C:p.V739L;ENSG00000134769:ENST00000556414:exon13:c.G1171C:p.V391L;ENSG00000134769:ENST00000269190:exon24:c.G2218C:p.V740L;ENSG00000134769:ENST00000399121:exon21:c.G2056C:p.V686L;ENSG00000134769:ENST00000590831:exon5:c.G493C:p.V165L;ENSG00000134769:ENST00000269192:exon15:c.G1342C:p.V448L;ENSG00000134769:ENST00000591182:exon13:c.G1159C:p.V387L;ENSG00000134769:ENST00000598142:exon20:c.G2044C:p.V682L;ENSG00000134769:ENST00000601125:exon12:c.G1081C:p.V361L;	0.999690687693713	0.984
18	32464692	G	T	18	34884728	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon21:c.G2215T:p.V739F;DTNA:NM_001198943:exon12:c.G1285T:p.V429F;DTNA:NM_001198942:exon15:c.G1342T:p.V448F;DTNA:NM_001198944:exon13:c.G1171T:p.V391F;DTNA:NM_001198940:exon20:c.G2035T:p.V679F;DTNA:NM_001198939:exon21:c.G2056T:p.V686F;DTNA:NM_032980:exon13:c.G1159T:p.V387F;DTNA:NM_032975:exon21:c.G2044T:p.V682F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon21:c.G1159T:p.V387F;ENSG00000134769:ENST00000595022:exon20:c.G2035T:p.V679F;ENSG00000134769:ENST00000444659:exon21:c.G2215T:p.V739F;ENSG00000134769:ENST00000283365:exon21:c.G2044T:p.V682F;ENSG00000134769:ENST00000399113:exon21:c.G2215T:p.V739F;ENSG00000134769:ENST00000556414:exon13:c.G1171T:p.V391F;ENSG00000134769:ENST00000269190:exon24:c.G2218T:p.V740F;ENSG00000134769:ENST00000399121:exon21:c.G2056T:p.V686F;ENSG00000134769:ENST00000590831:exon5:c.G493T:p.V165F;ENSG00000134769:ENST00000269192:exon15:c.G1342T:p.V448F;ENSG00000134769:ENST00000591182:exon13:c.G1159T:p.V387F;ENSG00000134769:ENST00000598142:exon20:c.G2044T:p.V682F;ENSG00000134769:ENST00000601125:exon12:c.G1081T:p.V361F;	0.999768363635099	0.986
18	32464693	T	A	18	34884729	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon21:c.T2216A:p.V739D;DTNA:NM_001198943:exon12:c.T1286A:p.V429D;DTNA:NM_001198942:exon15:c.T1343A:p.V448D;DTNA:NM_001198944:exon13:c.T1172A:p.V391D;DTNA:NM_001198940:exon20:c.T2036A:p.V679D;DTNA:NM_001198939:exon21:c.T2057A:p.V686D;DTNA:NM_032980:exon13:c.T1160A:p.V387D;DTNA:NM_032975:exon21:c.T2045A:p.V682D;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon21:c.T1160A:p.V387D;ENSG00000134769:ENST00000595022:exon20:c.T2036A:p.V679D;ENSG00000134769:ENST00000444659:exon21:c.T2216A:p.V739D;ENSG00000134769:ENST00000283365:exon21:c.T2045A:p.V682D;ENSG00000134769:ENST00000399113:exon21:c.T2216A:p.V739D;ENSG00000134769:ENST00000556414:exon13:c.T1172A:p.V391D;ENSG00000134769:ENST00000269190:exon24:c.T2219A:p.V740D;ENSG00000134769:ENST00000399121:exon21:c.T2057A:p.V686D;ENSG00000134769:ENST00000590831:exon5:c.T494A:p.V165D;ENSG00000134769:ENST00000269192:exon15:c.T1343A:p.V448D;ENSG00000134769:ENST00000591182:exon13:c.T1160A:p.V387D;ENSG00000134769:ENST00000598142:exon20:c.T2045A:p.V682D;ENSG00000134769:ENST00000601125:exon12:c.T1082A:p.V361D;	0.450234386207612	0.602
18	32464693	T	C	18	34884729	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon21:c.T2216C:p.V739A;DTNA:NM_001198943:exon12:c.T1286C:p.V429A;DTNA:NM_001198942:exon15:c.T1343C:p.V448A;DTNA:NM_001198944:exon13:c.T1172C:p.V391A;DTNA:NM_001198940:exon20:c.T2036C:p.V679A;DTNA:NM_001198939:exon21:c.T2057C:p.V686A;DTNA:NM_032980:exon13:c.T1160C:p.V387A;DTNA:NM_032975:exon21:c.T2045C:p.V682A;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon21:c.T1160C:p.V387A;ENSG00000134769:ENST00000595022:exon20:c.T2036C:p.V679A;ENSG00000134769:ENST00000444659:exon21:c.T2216C:p.V739A;ENSG00000134769:ENST00000283365:exon21:c.T2045C:p.V682A;ENSG00000134769:ENST00000399113:exon21:c.T2216C:p.V739A;ENSG00000134769:ENST00000556414:exon13:c.T1172C:p.V391A;ENSG00000134769:ENST00000269190:exon24:c.T2219C:p.V740A;ENSG00000134769:ENST00000399121:exon21:c.T2057C:p.V686A;ENSG00000134769:ENST00000590831:exon5:c.T494C:p.V165A;ENSG00000134769:ENST00000269192:exon15:c.T1343C:p.V448A;ENSG00000134769:ENST00000591182:exon13:c.T1160C:p.V387A;ENSG00000134769:ENST00000598142:exon20:c.T2045C:p.V682A;ENSG00000134769:ENST00000601125:exon12:c.T1082C:p.V361A;	0.423935253110104	0.516
18	32464693	T	G	18	34884729	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001390:exon21:c.T2216G:p.V739G;DTNA:NM_001198943:exon12:c.T1286G:p.V429G;DTNA:NM_001198942:exon15:c.T1343G:p.V448G;DTNA:NM_001198944:exon13:c.T1172G:p.V391G;DTNA:NM_001198940:exon20:c.T2036G:p.V679G;DTNA:NM_001198939:exon21:c.T2057G:p.V686G;DTNA:NM_032980:exon13:c.T1160G:p.V387G;DTNA:NM_032975:exon21:c.T2045G:p.V682G;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000399097:exon21:c.T1160G:p.V387G;ENSG00000134769:ENST00000595022:exon20:c.T2036G:p.V679G;ENSG00000134769:ENST00000444659:exon21:c.T2216G:p.V739G;ENSG00000134769:ENST00000283365:exon21:c.T2045G:p.V682G;ENSG00000134769:ENST00000399113:exon21:c.T2216G:p.V739G;ENSG00000134769:ENST00000556414:exon13:c.T1172G:p.V391G;ENSG00000134769:ENST00000269190:exon24:c.T2219G:p.V740G;ENSG00000134769:ENST00000399121:exon21:c.T2057G:p.V686G;ENSG00000134769:ENST00000590831:exon5:c.T494G:p.V165G;ENSG00000134769:ENST00000269192:exon15:c.T1343G:p.V448G;ENSG00000134769:ENST00000591182:exon13:c.T1160G:p.V387G;ENSG00000134769:ENST00000598142:exon20:c.T2045G:p.V682G;ENSG00000134769:ENST00000601125:exon12:c.T1082G:p.V361G;	0.484187744203593	0.528
18	32464738	C	A	18	34884774	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.968454197342085	0.684
18	32464738	C	G	18	34884774	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.931842506043333	0.622
18	32464738	C	T	18	34884774	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.997823069952257	0.866
18	32464739	A	C	18	34884775	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.995703902246127	0.958
18	32464739	A	G	18	34884775	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.985774870393953	0.89
18	32464739	A	T	18	34884775	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.99786363881441	0.928
18	32464740	A	C	18	34884776	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.397769693124896	0.738
18	32464740	A	G	18	34884776	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.283577410543103	0.274
18	32464740	A	T	18	34884776	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.859994309019827	0.63
18	32464741	G	A	18	34884777	y	y	splicing	DTNA(NM_032975:exon21:c.2092+1G>A;NM_001198940:exon20:c.2083+1G>A;NM_001198939:exon21:c.2104+1G>A;NM_001390:exon21:c.2263+1G>A;NM_001198943:exon12:c.1333+1G>A;NM_001198944:exon13:c.1219+1G>A;NM_001198942:exon15:c.1390+1G>A;NM_032980:exon13:c.1207+1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2092+1G>A;ENST00000399121:exon21:c.2104+1G>A;ENST00000399097:exon21:c.1207+1G>A;ENST00000269190:exon24:c.2266+1G>A;ENST00000595022:exon20:c.2083+1G>A;ENST00000598142:exon20:c.2092+1G>A;ENST00000444659:exon21:c.2263+1G>A;ENST00000601125:exon12:c.1129+1G>A;ENST00000269192:exon15:c.1390+1G>A;ENST00000591182:exon13:c.1207+1G>A;ENST00000556414:exon13:c.1219+1G>A;ENST00000590831:exon5:c.541+1G>A)	.	.	0.999990361384395	0.938
18	32464741	G	C	18	34884777	y	y	splicing	DTNA(NM_032975:exon21:c.2092+1G>C;NM_001198940:exon20:c.2083+1G>C;NM_001198939:exon21:c.2104+1G>C;NM_001390:exon21:c.2263+1G>C;NM_001198943:exon12:c.1333+1G>C;NM_001198944:exon13:c.1219+1G>C;NM_001198942:exon15:c.1390+1G>C;NM_032980:exon13:c.1207+1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2092+1G>C;ENST00000399121:exon21:c.2104+1G>C;ENST00000399097:exon21:c.1207+1G>C;ENST00000269190:exon24:c.2266+1G>C;ENST00000595022:exon20:c.2083+1G>C;ENST00000598142:exon20:c.2092+1G>C;ENST00000444659:exon21:c.2263+1G>C;ENST00000601125:exon12:c.1129+1G>C;ENST00000269192:exon15:c.1390+1G>C;ENST00000591182:exon13:c.1207+1G>C;ENST00000556414:exon13:c.1219+1G>C;ENST00000590831:exon5:c.541+1G>C)	.	.	0.999990361384395	0.938
18	32464741	G	T	18	34884777	y	y	splicing	DTNA(NM_032975:exon21:c.2092+1G>T;NM_001198940:exon20:c.2083+1G>T;NM_001198939:exon21:c.2104+1G>T;NM_001390:exon21:c.2263+1G>T;NM_001198943:exon12:c.1333+1G>T;NM_001198944:exon13:c.1219+1G>T;NM_001198942:exon15:c.1390+1G>T;NM_032980:exon13:c.1207+1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2092+1G>T;ENST00000399121:exon21:c.2104+1G>T;ENST00000399097:exon21:c.1207+1G>T;ENST00000269190:exon24:c.2266+1G>T;ENST00000595022:exon20:c.2083+1G>T;ENST00000598142:exon20:c.2092+1G>T;ENST00000444659:exon21:c.2263+1G>T;ENST00000601125:exon12:c.1129+1G>T;ENST00000269192:exon15:c.1390+1G>T;ENST00000591182:exon13:c.1207+1G>T;ENST00000556414:exon13:c.1219+1G>T;ENST00000590831:exon5:c.541+1G>T)	.	.	0.999990361384395	0.938
18	32464742	T	A	18	34884778	y	y	splicing	DTNA(NM_032975:exon21:c.2092+2T>A;NM_001198940:exon20:c.2083+2T>A;NM_001198939:exon21:c.2104+2T>A;NM_001390:exon21:c.2263+2T>A;NM_001198943:exon12:c.1333+2T>A;NM_001198944:exon13:c.1219+2T>A;NM_001198942:exon15:c.1390+2T>A;NM_032980:exon13:c.1207+2T>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2092+2T>A;ENST00000399121:exon21:c.2104+2T>A;ENST00000399097:exon21:c.1207+2T>A;ENST00000269190:exon24:c.2266+2T>A;ENST00000595022:exon20:c.2083+2T>A;ENST00000598142:exon20:c.2092+2T>A;ENST00000444659:exon21:c.2263+2T>A;ENST00000601125:exon12:c.1129+2T>A;ENST00000269192:exon15:c.1390+2T>A;ENST00000591182:exon13:c.1207+2T>A;ENST00000556414:exon13:c.1219+2T>A;ENST00000590831:exon5:c.541+2T>A)	.	.	0.999988247793601	0.932
18	32464742	T	C	18	34884778	y	y	splicing	DTNA(NM_032975:exon21:c.2092+2T>C;NM_001198940:exon20:c.2083+2T>C;NM_001198939:exon21:c.2104+2T>C;NM_001390:exon21:c.2263+2T>C;NM_001198943:exon12:c.1333+2T>C;NM_001198944:exon13:c.1219+2T>C;NM_001198942:exon15:c.1390+2T>C;NM_032980:exon13:c.1207+2T>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2092+2T>C;ENST00000399121:exon21:c.2104+2T>C;ENST00000399097:exon21:c.1207+2T>C;ENST00000269190:exon24:c.2266+2T>C;ENST00000595022:exon20:c.2083+2T>C;ENST00000598142:exon20:c.2092+2T>C;ENST00000444659:exon21:c.2263+2T>C;ENST00000601125:exon12:c.1129+2T>C;ENST00000269192:exon15:c.1390+2T>C;ENST00000591182:exon13:c.1207+2T>C;ENST00000556414:exon13:c.1219+2T>C;ENST00000590831:exon5:c.541+2T>C)	.	.	0.995320650369382	0.73
18	32464742	T	G	18	34884778	y	y	splicing	DTNA(NM_032975:exon21:c.2092+2T>G;NM_001198940:exon20:c.2083+2T>G;NM_001198939:exon21:c.2104+2T>G;NM_001390:exon21:c.2263+2T>G;NM_001198943:exon12:c.1333+2T>G;NM_001198944:exon13:c.1219+2T>G;NM_001198942:exon15:c.1390+2T>G;NM_032980:exon13:c.1207+2T>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon21:c.2092+2T>G;ENST00000399121:exon21:c.2104+2T>G;ENST00000399097:exon21:c.1207+2T>G;ENST00000269190:exon24:c.2266+2T>G;ENST00000595022:exon20:c.2083+2T>G;ENST00000598142:exon20:c.2092+2T>G;ENST00000444659:exon21:c.2263+2T>G;ENST00000601125:exon12:c.1129+2T>G;ENST00000269192:exon15:c.1390+2T>G;ENST00000591182:exon13:c.1207+2T>G;ENST00000556414:exon13:c.1219+2T>G;ENST00000590831:exon5:c.541+2T>G)	.	.	0.999988247793601	0.932
18	32464743	A	C	18	34884779	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999654652722339	0.938
18	32464743	A	G	18	34884779	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0801323880304357	0.3
18	32464743	A	T	18	34884779	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.989811723208376	0.84
18	32464744	A	C	18	34884780	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998154872352241	0.91
18	32464744	A	G	18	34884780	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.99774519637279	0.898
18	32464744	A	T	18	34884780	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999182303927059	0.86
18	32464745	G	A	18	34884781	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.994331162597833	0.958
18	32464745	G	C	18	34884781	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.995589431431209	0.918
18	32464745	G	T	18	34884781	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.998015022188349	0.89
18	32464746	T	A	18	34884782	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.986306563704644	0.81
18	32464746	T	C	18	34884782	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.962918061641826	0.83
18	32464746	T	G	18	34884782	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.964540614091013	0.794
18	32464747	A	C	18	34884783	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00189142985166135	0.008
18	32464747	A	G	18	34884783	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00189142985166135	0.002
18	32464747	A	T	18	34884783	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00189142985166135	0.0
18	32464748	C	A	18	34884784	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00164255952503734	0.032
18	32464748	C	G	18	34884784	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00162212127959324	0.016
18	32464748	C	T	18	34884784	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00351483983087598	0.014
18	32467718	C	A	18	34887754	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.210884476455315	0.374
18	32467718	C	G	18	34887754	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.195663839404745	0.378
18	32467718	C	T	18	34887754	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.275194754603294	0.562
18	32467719	C	A	18	34887755	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.958080880775933	0.71
18	32467719	C	G	18	34887755	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.975240298643877	0.72
18	32467719	C	T	18	34887755	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.951597239349184	0.798
18	32467720	T	A	18	34887756	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.993380215255336	0.676
18	32467720	T	C	18	34887756	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.424673371166174	0.502
18	32467720	T	G	18	34887756	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.987595318846548	0.686
18	32467721	T	A	18	34887757	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.977559144537916	0.594
18	32467721	T	C	18	34887757	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.786854180585851	0.506
18	32467721	T	G	18	34887757	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.971800886952363	0.618
18	32467722	A	C	18	34887758	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	9.25323756853676E-4	0.012
18	32467722	A	G	18	34887758	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00148705226861024	0.006
18	32467722	A	T	18	34887758	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	4.26139669432075E-4	0.004
18	32467723	T	A	18	34887759	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.191305115536924	0.264
18	32467723	T	C	18	34887759	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00356210749506261	0.026
18	32467723	T	G	18	34887759	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999863650281955	0.968
18	32467724	T	A	18	34887760	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00153174769252708	0.082
18	32467724	T	C	18	34887760	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	1.43528595576126E-4	0.048
18	32467724	T	G	18	34887760	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00546818107300748	0.112
18	32467725	C	A	18	34887761	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.105200904169999	0.28
18	32467725	C	G	18	34887761	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.162553827214792	0.356
18	32467725	C	T	18	34887761	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00381956432785211	0.058
18	32467726	C	A	18	34887762	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0027293020914965	0.112
18	32467726	C	G	18	34887762	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00491618461066485	0.092
18	32467726	C	T	18	34887762	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.00646683315120977	0.082
18	32467727	C	A	18	34887763	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.997109322008625	0.722
18	32467727	C	G	18	34887763	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.999661419683401	0.96
18	32467727	C	T	18	34887763	y	y	intronic	DTNA	.	.	intronic	ENSG00000134769	.	.	0.0239967199495645	0.182
18	32467728	A	C	18	34887764	y	y	splicing	DTNA(NM_032975:exon22:c.2093-2A>C;NM_001198940:exon21:c.2084-2A>C;NM_001198939:exon22:c.2105-2A>C;NM_001390:exon22:c.2264-2A>C;NM_001198943:exon13:c.1334-2A>C;NM_001198944:exon14:c.1220-2A>C;NM_001198942:exon16:c.1391-2A>C;NM_032980:exon14:c.1208-2A>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon22:c.2093-2A>C;ENST00000399121:exon22:c.2105-2A>C;ENST00000399097:exon22:c.1208-2A>C;ENST00000269190:exon25:c.2267-2A>C;ENST00000595022:exon21:c.2084-2A>C;ENST00000598142:exon21:c.2093-2A>C;ENST00000444659:exon22:c.2264-2A>C;ENST00000601125:exon13:c.1130-2A>C;ENST00000269192:exon16:c.1391-2A>C;ENST00000591182:exon14:c.1208-2A>C;ENST00000556414:exon14:c.1220-2A>C)	.	.	0.999988247793601	0.93
18	32467728	A	G	18	34887764	y	y	splicing	DTNA(NM_032975:exon22:c.2093-2A>G;NM_001198940:exon21:c.2084-2A>G;NM_001198939:exon22:c.2105-2A>G;NM_001390:exon22:c.2264-2A>G;NM_001198943:exon13:c.1334-2A>G;NM_001198944:exon14:c.1220-2A>G;NM_001198942:exon16:c.1391-2A>G;NM_032980:exon14:c.1208-2A>G)	.	.	splicing	ENSG00000134769(ENST00000283365:exon22:c.2093-2A>G;ENST00000399121:exon22:c.2105-2A>G;ENST00000399097:exon22:c.1208-2A>G;ENST00000269190:exon25:c.2267-2A>G;ENST00000595022:exon21:c.2084-2A>G;ENST00000598142:exon21:c.2093-2A>G;ENST00000444659:exon22:c.2264-2A>G;ENST00000601125:exon13:c.1130-2A>G;ENST00000269192:exon16:c.1391-2A>G;ENST00000591182:exon14:c.1208-2A>G;ENST00000556414:exon14:c.1220-2A>G)	.	.	0.999988247793601	0.93
18	32467728	A	T	18	34887764	y	y	splicing	DTNA(NM_032975:exon22:c.2093-2A>T;NM_001198940:exon21:c.2084-2A>T;NM_001198939:exon22:c.2105-2A>T;NM_001390:exon22:c.2264-2A>T;NM_001198943:exon13:c.1334-2A>T;NM_001198944:exon14:c.1220-2A>T;NM_001198942:exon16:c.1391-2A>T;NM_032980:exon14:c.1208-2A>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon22:c.2093-2A>T;ENST00000399121:exon22:c.2105-2A>T;ENST00000399097:exon22:c.1208-2A>T;ENST00000269190:exon25:c.2267-2A>T;ENST00000595022:exon21:c.2084-2A>T;ENST00000598142:exon21:c.2093-2A>T;ENST00000444659:exon22:c.2264-2A>T;ENST00000601125:exon13:c.1130-2A>T;ENST00000269192:exon16:c.1391-2A>T;ENST00000591182:exon14:c.1208-2A>T;ENST00000556414:exon14:c.1220-2A>T)	.	.	0.999988247793601	0.93
18	32467729	G	A	18	34887765	y	y	splicing	DTNA(NM_032975:exon22:c.2093-1G>A;NM_001198940:exon21:c.2084-1G>A;NM_001198939:exon22:c.2105-1G>A;NM_001390:exon22:c.2264-1G>A;NM_001198943:exon13:c.1334-1G>A;NM_001198944:exon14:c.1220-1G>A;NM_001198942:exon16:c.1391-1G>A;NM_032980:exon14:c.1208-1G>A)	.	.	splicing	ENSG00000134769(ENST00000283365:exon22:c.2093-1G>A;ENST00000399121:exon22:c.2105-1G>A;ENST00000399097:exon22:c.1208-1G>A;ENST00000269190:exon25:c.2267-1G>A;ENST00000595022:exon21:c.2084-1G>A;ENST00000598142:exon21:c.2093-1G>A;ENST00000444659:exon22:c.2264-1G>A;ENST00000601125:exon13:c.1130-1G>A;ENST00000269192:exon16:c.1391-1G>A;ENST00000591182:exon14:c.1208-1G>A;ENST00000556414:exon14:c.1220-1G>A)	.	.	0.999990361384395	0.936
18	32467729	G	C	18	34887765	y	y	splicing	DTNA(NM_032975:exon22:c.2093-1G>C;NM_001198940:exon21:c.2084-1G>C;NM_001198939:exon22:c.2105-1G>C;NM_001390:exon22:c.2264-1G>C;NM_001198943:exon13:c.1334-1G>C;NM_001198944:exon14:c.1220-1G>C;NM_001198942:exon16:c.1391-1G>C;NM_032980:exon14:c.1208-1G>C)	.	.	splicing	ENSG00000134769(ENST00000283365:exon22:c.2093-1G>C;ENST00000399121:exon22:c.2105-1G>C;ENST00000399097:exon22:c.1208-1G>C;ENST00000269190:exon25:c.2267-1G>C;ENST00000595022:exon21:c.2084-1G>C;ENST00000598142:exon21:c.2093-1G>C;ENST00000444659:exon22:c.2264-1G>C;ENST00000601125:exon13:c.1130-1G>C;ENST00000269192:exon16:c.1391-1G>C;ENST00000591182:exon14:c.1208-1G>C;ENST00000556414:exon14:c.1220-1G>C)	.	.	0.999990361384395	0.936
18	32467729	G	T	18	34887765	y	y	splicing	DTNA(NM_032975:exon22:c.2093-1G>T;NM_001198940:exon21:c.2084-1G>T;NM_001198939:exon22:c.2105-1G>T;NM_001390:exon22:c.2264-1G>T;NM_001198943:exon13:c.1334-1G>T;NM_001198944:exon14:c.1220-1G>T;NM_001198942:exon16:c.1391-1G>T;NM_032980:exon14:c.1208-1G>T)	.	.	splicing	ENSG00000134769(ENST00000283365:exon22:c.2093-1G>T;ENST00000399121:exon22:c.2105-1G>T;ENST00000399097:exon22:c.1208-1G>T;ENST00000269190:exon25:c.2267-1G>T;ENST00000595022:exon21:c.2084-1G>T;ENST00000598142:exon21:c.2093-1G>T;ENST00000444659:exon22:c.2264-1G>T;ENST00000601125:exon13:c.1130-1G>T;ENST00000269192:exon16:c.1391-1G>T;ENST00000591182:exon14:c.1208-1G>T;ENST00000556414:exon14:c.1220-1G>T)	.	.	0.999990361384395	0.936
18	32467730	G	A	18	34887766	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.812391692869668	0.59
18	32467730	G	C	18	34887766	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.991980599030838	0.768
18	32467730	G	T	18	34887766	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.976604009703524	0.778
18	32467731	C	A	18	34887767	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0237544030330514	0.09
18	32467731	C	G	18	34887767	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0122483879014837	0.074
18	32467731	C	T	18	34887767	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0086264490048924	0.05
18	32470252	T	A	18	34890288	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0117931559103126	0.03
18	32470252	T	C	18	34890288	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.006894648927926	0.03
18	32470252	T	G	18	34890288	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.006894648927926	0.03
18	32470253	C	A	18	34890289	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0218013593461534	0.07
18	32470253	C	G	18	34890289	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0218013593461534	0.074
18	32470253	C	T	18	34890289	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0243156145864903	0.076
18	32470254	T	A	18	34890290	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0305896901318045	0.164
18	32470254	T	C	18	34890290	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0255974694697583	0.058
18	32470254	T	G	18	34890290	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0255974694697583	0.06
18	32470255	C	A	18	34890291	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	2.88624898711671E-4	0.05
18	32470255	C	G	18	34890291	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	2.88624898711671E-4	0.062
18	32470255	C	T	18	34890291	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	3.64041427978551E-4	0.068
18	32470256	T	A	18	34890292	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0305896901318045	0.162
18	32470256	T	C	18	34890292	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0255974694697583	0.046
18	32470256	T	G	18	34890292	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0255974694697583	0.046
18	32470257	C	A	18	34890293	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.00496959060776242	0.04
18	32470257	C	G	18	34890293	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.00319246876455367	0.07
18	32470257	C	T	18	34890293	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.00430475285361103	0.036
18	32470258	T	A	18	34890294	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	7.91335385279169E-4	0.002
18	32470258	T	C	18	34890294	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	7.69968134076753E-4	0.002
18	32470258	T	G	18	34890294	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	7.69968134076753E-4	0.002
18	32470259	C	A	18	34890295	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0218013593461534	0.07
18	32470259	C	G	18	34890295	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0218013593461534	0.074
18	32470259	C	T	18	34890295	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0243156145864903	0.076
18	32470260	T	A	18	34890296	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0305896901318045	0.162
18	32470260	T	C	18	34890296	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0255974694697583	0.046
18	32470260	T	G	18	34890296	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.0255974694697583	0.048
18	32470261	T	A	18	34890297	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.006894648927926	0.03
18	32470261	T	C	18	34890297	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.006894648927926	0.022
18	32470261	T	G	18	34890297	y	y	UTR3	DTNA	.	.	UTR3	ENSG00000134769	.	.	0.006894648927926	0.02
18	32470262	A	C	18	34890298	y	y	splicing	DTNA(NM_001198938:exon20:c.2035-2A>C)	.	.	splicing	ENSG00000134769(ENST00000598334:exon20:c.2035-2A>C;ENST00000590831:exon6:c.542-2A>C)	.	.	0.006894648927926	0.03
18	32470262	A	G	18	34890298	y	y	splicing	DTNA(NM_001198938:exon20:c.2035-2A>G)	.	.	splicing	ENSG00000134769(ENST00000598334:exon20:c.2035-2A>G;ENST00000590831:exon6:c.542-2A>G)	.	.	0.006894648927926	0.028
18	32470262	A	T	18	34890298	y	y	splicing	DTNA(NM_001198938:exon20:c.2035-2A>T)	.	.	splicing	ENSG00000134769(ENST00000598334:exon20:c.2035-2A>T;ENST00000590831:exon6:c.542-2A>T)	.	.	0.0117931559103126	0.032
18	32470263	G	A	18	34890299	y	y	splicing	DTNA(NM_001198938:exon20:c.2035-1G>A)	.	.	splicing	ENSG00000134769(ENST00000598334:exon20:c.2035-1G>A;ENST00000590831:exon6:c.542-1G>A)	.	.	0.0410793819238282	0.082
18	32470263	G	C	18	34890299	y	y	splicing	DTNA(NM_001198938:exon20:c.2035-1G>C)	.	.	splicing	ENSG00000134769(ENST00000598334:exon20:c.2035-1G>C;ENST00000590831:exon6:c.542-1G>C)	.	.	0.0243156145864903	0.084
18	32470263	G	T	18	34890299	y	y	splicing	DTNA(NM_001198938:exon20:c.2035-1G>T)	.	.	splicing	ENSG00000134769(ENST00000598334:exon20:c.2035-1G>T;ENST00000590831:exon6:c.542-1G>T)	.	.	0.0243156145864903	0.096
18	32470264	C	A	18	34890300	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198938:exon20:c.C2035A:p.L679I;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000598334:exon20:c.C2035A:p.L679I;	0.0243156145864903	0.088
18	32470264	C	G	18	34890300	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198938:exon20:c.C2035G:p.L679V;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000598334:exon20:c.C2035G:p.L679V;	0.0243156145864903	0.082
18	32470264	C	T	18	34890300	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198938:exon20:c.C2035T:p.L679F;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000598334:exon20:c.C2035T:p.L679F;	0.0410793819238282	0.082
18	32470265	T	A	18	34890301	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198938:exon20:c.T2036A:p.L679H;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000598334:exon20:c.T2036A:p.L679H;	1.32658667526046E-4	0.002
18	32470265	T	C	18	34890301	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198938:exon20:c.T2036C:p.L679P;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000598334:exon20:c.T2036C:p.L679P;	1.46226529156369E-4	0.002
18	32470265	T	G	18	34890301	y	y	exonic	DTNA	nonsynonymous SNV	DTNA:NM_001198938:exon20:c.T2036G:p.L679R;	exonic	ENSG00000134769	nonsynonymous SNV	ENSG00000134769:ENST00000598334:exon20:c.T2036G:p.L679R;	1.46226529156369E-4	0.002
18	32557041	C	A	18	34977077	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.99322353305357	0.854
18	32557041	C	G	18	34977077	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.993733916693694	0.856
18	32557041	C	T	18	34977077	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.99322353305357	0.856
18	32557042	A	C	18	34977078	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.943420802424773	0.818
18	32557042	A	G	18	34977078	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.943420802424773	0.818
18	32557042	A	T	18	34977078	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.943420802424773	0.828
18	32557043	G	A	18	34977079	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.995876797705294	0.864
18	32557043	G	C	18	34977079	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.99322353305357	0.856
18	32557043	G	T	18	34977079	y	y	UTR5	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.99322353305357	0.854
18	32557044	G	A	18	34977080	y	y	splicing	MAPRE2	.	.	splicing	ENSG00000166974	.	.	0.993824108016147	0.926
18	32557044	G	C	18	34977080	y	y	splicing	MAPRE2	.	.	splicing	ENSG00000166974	.	.	0.993824108016147	0.934
18	32557044	G	T	18	34977080	y	y	splicing	MAPRE2	.	.	splicing	ENSG00000166974	.	.	0.993824108016147	0.928
18	32557045	T	A	18	34977081	y	y	splicing	MAPRE2	.	.	splicing	ENSG00000166974	.	.	0.936299306359579	0.856
18	32557045	T	C	18	34977081	y	y	splicing	MAPRE2	.	.	splicing	ENSG00000166974	.	.	0.936299306359579	0.86
18	32557045	T	G	18	34977081	y	y	splicing	MAPRE2	.	.	splicing	ENSG00000166974	.	.	0.936299306359579	0.86
18	32557046	G	A	18	34977082	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.866
18	32557046	G	C	18	34977082	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.866
18	32557046	G	T	18	34977082	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.866
18	32557047	A	C	18	34977083	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.92961721136914	0.77
18	32557047	A	G	18	34977083	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.92961721136914	0.77
18	32557047	A	T	18	34977083	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.924282330812132	0.77
18	32557048	G	A	18	34977084	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.864
18	32557048	G	C	18	34977084	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.864
18	32557048	G	T	18	34977084	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.866
18	32557049	T	A	18	34977085	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0396071572689364	0.228
18	32557049	T	C	18	34977085	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0396071572689364	0.23
18	32557049	T	G	18	34977085	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0396071572689364	0.23
18	32557050	C	A	18	34977086	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.866
18	32557050	C	G	18	34977086	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.864
18	32557050	C	T	18	34977086	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993733916693694	0.864
18	32557051	A	C	18	34977087	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00465319829198118	0.126
18	32557051	A	G	18	34977087	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00465319829198118	0.126
18	32557051	A	T	18	34977087	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00712630166791992	0.136
18	32558503	A	C	18	34978539	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon1:c.A22C:p.K8Q;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon1:c.A22C:p.K8Q;	9.80257671126134E-4	0.002
18	32558503	A	G	18	34978539	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon1:c.A22G:p.K8E;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon1:c.A22G:p.K8E;	7.15838005414123E-4	0.002
18	32558503	A	T	18	34978539	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_001143827:exon1:c.A22T:p.K8X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000436190:exon1:c.A22T:p.K8X;	0.0828530037404391	0.432
18	32558504	A	C	18	34978540	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon1:c.A23C:p.K8T;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon1:c.A23C:p.K8T;	7.91335385279169E-4	0.008
18	32558504	A	G	18	34978540	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon1:c.A23G:p.K8R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon1:c.A23G:p.K8R;	3.821824429032E-4	0.008
18	32558504	A	T	18	34978540	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon1:c.A23T:p.K8M;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon1:c.A23T:p.K8M;	7.15838005414123E-4	0.01
18	32558505	G	A	18	34978541	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143827:exon1:c.G24A:p.K8K;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000436190:exon1:c.G24A:p.K8K;	0.793118250434253	0.698
18	32558505	G	C	18	34978541	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon1:c.G24C:p.K8N;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon1:c.G24C:p.K8N;	0.151148779284611	0.26
18	32558505	G	T	18	34978541	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon1:c.G24T:p.K8N;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon1:c.G24T:p.K8N;	0.610175718888826	0.364
18	32558506	G	A	18	34978542	y	y	splicing	MAPRE2(NM_001143827:exon1:c.24+1G>A)	.	.	splicing	ENSG00000166974(ENST00000436190:exon1:c.24+1G>A)	.	.	0.993733916693694	0.87
18	32558506	G	C	18	34978542	y	y	splicing	MAPRE2(NM_001143827:exon1:c.24+1G>C)	.	.	splicing	ENSG00000166974(ENST00000436190:exon1:c.24+1G>C)	.	.	0.993733916693694	0.866
18	32558506	G	T	18	34978542	y	y	splicing	MAPRE2(NM_001143827:exon1:c.24+1G>T)	.	.	splicing	ENSG00000166974(ENST00000436190:exon1:c.24+1G>T)	.	.	0.993733916693694	0.872
18	32558507	T	A	18	34978543	y	y	splicing	MAPRE2(NM_001143827:exon1:c.24+2T>A)	.	.	splicing	ENSG00000166974(ENST00000436190:exon1:c.24+2T>A)	.	.	0.00785745390433112	0.096
18	32558507	T	C	18	34978543	y	y	splicing	MAPRE2(NM_001143827:exon1:c.24+2T>C)	.	.	splicing	ENSG00000166974(ENST00000436190:exon1:c.24+2T>C)	.	.	0.0069180409540431	0.064
18	32558507	T	G	18	34978543	y	y	splicing	MAPRE2(NM_001143827:exon1:c.24+2T>G)	.	.	splicing	ENSG00000166974(ENST00000436190:exon1:c.24+2T>G)	.	.	0.0069180409540431	0.064
18	32558508	A	C	18	34978544	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.91335385279169E-4	0.006
18	32558508	A	G	18	34978544	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.91335385279169E-4	0.006
18	32558508	A	T	18	34978544	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.91335385279169E-4	0.006
18	32558509	A	C	18	34978545	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.80257671126134E-4	0.012
18	32558509	A	G	18	34978545	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.80257671126134E-4	0.012
18	32558509	A	T	18	34978545	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.89371736124219E-4	0.008
18	32558510	T	A	18	34978546	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.32453383485143E-5	0.0
18	32558510	T	C	18	34978546	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.32453383485143E-5	0.0
18	32558510	T	G	18	34978546	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.32453383485143E-5	0.0
18	32558511	C	A	18	34978547	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.7357792130175E-4	0.0
18	32558511	C	G	18	34978547	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.7357792130175E-4	0.0
18	32558511	C	T	18	34978547	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.98561944552076E-4	0.058
18	32558512	T	A	18	34978548	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.18429645671592E-5	0.0
18	32558512	T	C	18	34978548	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.69439264402225E-5	0.0
18	32558512	T	G	18	34978548	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.69439264402225E-5	0.0
18	32558513	G	A	18	34978549	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.2194139863653E-4	0.004
18	32558513	G	C	18	34978549	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.18924664478357E-5	0.004
18	32558513	G	T	18	34978549	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.42334554293701E-5	0.004
18	32568545	T	A	18	34988581	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.15267776820636E-5	0.0
18	32568545	T	C	18	34988581	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.15267776820636E-5	0.0
18	32568545	T	G	18	34988581	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.15267776820636E-5	0.0
18	32568546	G	A	18	34988582	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.45204556660269E-4	0.02
18	32568546	G	C	18	34988582	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.82685551969961E-5	0.024
18	32568546	G	T	18	34988582	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.45204556660269E-4	0.02
18	32568547	C	A	18	34988583	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.69930370103191E-5	0.0
18	32568547	C	G	18	34988583	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.57076726553018E-5	0.0
18	32568547	C	T	18	34988583	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.69930370103191E-5	0.0
18	32568548	T	A	18	34988584	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.86764315709017E-5	0.0
18	32568548	T	C	18	34988584	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.39457982047225E-5	0.004
18	32568548	T	G	18	34988584	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.39457982047225E-5	0.002
18	32568549	T	A	18	34988585	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.11159464097565E-5	0.008
18	32568549	T	C	18	34988585	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.87995666562217E-5	0.008
18	32568549	T	G	18	34988585	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.87995666562217E-5	0.008
18	32568550	C	A	18	34988586	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.35115461238441E-4	0.0
18	32568550	C	G	18	34988586	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.35115461238441E-4	0.0
18	32568550	C	T	18	34988586	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.35115461238441E-4	0.0
18	32568551	A	C	18	34988587	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.39529611572298E-5	0.008
18	32568551	A	G	18	34988587	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.39529611572298E-5	0.008
18	32568551	A	T	18	34988587	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.87995666562217E-5	0.008
18	32568552	T	A	18	34988588	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.90028566392549E-5	0.002
18	32568552	T	C	18	34988588	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.90028566392549E-5	0.004
18	32568552	T	G	18	34988588	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.90028566392549E-5	0.004
18	32568553	A	C	18	34988589	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.59660858139777E-5	0.0
18	32568553	A	G	18	34988589	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.59660858139777E-5	0.0
18	32568553	A	T	18	34988589	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.59660858139777E-5	0.0
18	32568554	T	A	18	34988590	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.49702646665041E-5	0.01
18	32568554	T	C	18	34988590	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.78864525412067E-5	0.002
18	32568554	T	G	18	34988590	n	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.08802802279601E-5	0.002
18	32568555	A	C	18	34988591	n	y	intronic	MAPRE2	.	.	splicing	ENSG00000166974	.	.	9.11159464097565E-5	0.008
18	32568555	A	G	18	34988591	n	y	intronic	MAPRE2	.	.	splicing	ENSG00000166974	.	.	9.11159464097565E-5	0.008
18	32568555	A	T	18	34988591	n	y	intronic	MAPRE2	.	.	splicing	ENSG00000166974	.	.	9.11159464097565E-5	0.008
18	32568556	G	A	18	34988592	n	y	intronic	MAPRE2	.	.	splicing	ENSG00000166974	.	.	6.24453633365032E-5	0.0
18	32568556	G	C	18	34988592	n	y	intronic	MAPRE2	.	.	splicing	ENSG00000166974	.	.	6.24453633365032E-5	0.0
18	32568556	G	T	18	34988592	n	y	intronic	MAPRE2	.	.	splicing	ENSG00000166974	.	.	6.24453633365032E-5	0.0
18	32568557	G	A	18	34988593	n	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	6.81050447486223E-4	0.026
18	32568557	G	C	18	34988593	n	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	8.28677872108501E-4	0.01
18	32568557	G	T	18	34988593	n	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	9.71819796559124E-4	0.002
18	32568558	G	A	18	34988594	n	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	6.56533051481905E-4	0.006
18	32568558	G	C	18	34988594	n	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	5.17644197011376E-4	0.004
18	32568558	G	T	18	34988594	n	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	6.75051730827634E-4	0.006
18	32585444	T	A	18	35005480	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.7357792130175E-4	0.0
18	32585444	T	C	18	35005480	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.7357792130175E-4	0.0
18	32585444	T	G	18	35005480	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.7357792130175E-4	0.0
18	32585445	T	A	18	35005481	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0115627085403644	0.032
18	32585445	T	C	18	35005481	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0115627085403644	0.028
18	32585445	T	G	18	35005481	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0115627085403644	0.028
18	32585446	A	C	18	35005482	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.86075475573093E-5	0.002
18	32585446	A	G	18	35005482	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.86075475573093E-5	0.002
18	32585446	A	T	18	35005482	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.86075475573093E-5	0.004
18	32585447	C	A	18	35005483	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.35188905718869E-4	0.004
18	32585447	C	G	18	35005483	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.37660782053663E-4	0.016
18	32585447	C	T	18	35005483	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.81753152719574E-4	0.004
18	32585448	T	A	18	35005484	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.9940397521754E-4	0.002
18	32585448	T	C	18	35005484	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.84596560644911E-4	0.002
18	32585448	T	G	18	35005484	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.84596560644911E-4	0.002
18	32585449	A	C	18	35005485	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.64905445396362E-5	0.0
18	32585449	A	G	18	35005485	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.64905445396362E-5	0.0
18	32585449	A	T	18	35005485	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.54583771157E-5	0.0
18	32585450	T	A	18	35005486	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.9096691494675E-4	0.006
18	32585450	T	C	18	35005486	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.75175917497495E-5	0.002
18	32585450	T	G	18	35005486	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.75175917497495E-5	0.002
18	32585451	C	A	18	35005487	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.63709697066248E-5	0.0
18	32585451	C	G	18	35005487	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.63709697066248E-5	0.0
18	32585451	C	T	18	35005487	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.52873415590811E-5	0.0
18	32585452	C	A	18	35005488	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.1377241730735E-4	0.008
18	32585452	C	G	18	35005488	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.22626046193861E-4	0.008
18	32585452	C	T	18	35005488	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.1377241730735E-4	0.004
18	32585453	C	A	18	35005489	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.83354364937545E-4	0.01
18	32585453	C	G	18	35005489	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.4536437166225E-4	0.01
18	32585453	C	T	18	35005489	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.83354364937545E-4	0.008
18	32585454	A	C	18	35005490	y	y	splicing	MAPRE2(NM_001143827:exon2:c.25-2A>C)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.25-2A>C)	.	.	0.912597335213623	0.642
18	32585454	A	G	18	35005490	y	y	splicing	MAPRE2(NM_001143827:exon2:c.25-2A>G)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.25-2A>G)	.	.	0.912597335213623	0.642
18	32585454	A	T	18	35005490	y	y	splicing	MAPRE2(NM_001143827:exon2:c.25-2A>T)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.25-2A>T)	.	.	0.945073279748749	0.688
18	32585455	G	A	18	35005491	y	y	splicing	MAPRE2(NM_001143827:exon2:c.25-1G>A)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.25-1G>A)	.	.	0.994029703713196	0.89
18	32585455	G	C	18	35005491	y	y	splicing	MAPRE2(NM_001143827:exon2:c.25-1G>C)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.25-1G>C)	.	.	0.991862532680307	0.86
18	32585455	G	T	18	35005491	y	y	splicing	MAPRE2(NM_001143827:exon2:c.25-1G>T)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.25-1G>T)	.	.	0.995046026859171	0.882
18	32585456	T	A	18	35005492	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.T25A:p.C9S;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.T25A:p.C9S;	5.20782955996528E-5	0.018
18	32585456	T	C	18	35005492	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.T25C:p.C9R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.T25C:p.C9R;	8.24560157743002E-5	0.056
18	32585456	T	G	18	35005492	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.T25G:p.C9G;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.T25G:p.C9G;	7.41199724659565E-5	0.032
18	32585457	G	A	18	35005493	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.G26A:p.C9Y;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.G26A:p.C9Y;	0.00108031835154204	0.014
18	32585457	G	C	18	35005493	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.G26C:p.C9S;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.G26C:p.C9S;	2.09450276291873E-4	0.01
18	32585457	G	T	18	35005493	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.G26T:p.C9F;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.G26T:p.C9F;	0.00112660670329902	0.01
18	32585515	A	C	18	35005551	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143827:exon2:c.A84C:p.S28S;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.A84C:p.S28S;	0.00188752003930919	0.04
18	32585515	A	G	18	35005551	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143827:exon2:c.A84G:p.S28S;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.A84G:p.S28S;	0.00188752003930919	0.042
18	32585515	A	T	18	35005551	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143827:exon2:c.A84T:p.S28S;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.A84T:p.S28S;	0.00261227525547131	0.106
18	32585516	A	C	18	35005552	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.A85C:p.S29R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.A85C:p.S29R;	0.934479950710637	0.696
18	32585516	A	G	18	35005552	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.A85G:p.S29G;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.A85G:p.S29G;	0.819625637894055	0.668
18	32585516	A	T	18	35005552	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.A85T:p.S29C;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.A85T:p.S29C;	0.73127889870302	0.674
18	32585517	G	A	18	35005553	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.G86A:p.S29N;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.G86A:p.S29N;	0.00139958160495982	0.104
18	32585517	G	C	18	35005553	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.G86C:p.S29T;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.G86C:p.S29T;	4.54560704112813E-4	0.002
18	32585517	G	T	18	35005553	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143827:exon2:c.G86T:p.S29I;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000436190:exon2:c.G86T:p.S29I;	0.0255131647487048	0.19
18	32585518	G	A	18	35005554	y	y	splicing	MAPRE2(NM_001143827:exon2:c.86+1G>A)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.86+1G>A)	.	.	0.995046026859171	0.87
18	32585518	G	C	18	35005554	y	y	splicing	MAPRE2(NM_001143827:exon2:c.86+1G>C)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.86+1G>C)	.	.	0.991862532680307	0.862
18	32585518	G	T	18	35005554	y	y	splicing	MAPRE2(NM_001143827:exon2:c.86+1G>T)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.86+1G>T)	.	.	0.991862532680307	0.86
18	32585519	T	A	18	35005555	y	y	splicing	MAPRE2(NM_001143827:exon2:c.86+2T>A)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.86+2T>A)	.	.	0.912597335213623	0.646
18	32585519	T	C	18	35005555	y	y	splicing	MAPRE2(NM_001143827:exon2:c.86+2T>C)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.86+2T>C)	.	.	0.912597335213623	0.644
18	32585519	T	G	18	35005555	y	y	splicing	MAPRE2(NM_001143827:exon2:c.86+2T>G)	.	.	splicing	ENSG00000166974(ENST00000436190:exon2:c.86+2T>G)	.	.	0.912597335213623	0.644
18	32585520	A	C	18	35005556	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0567281735269875	0.162
18	32585520	A	G	18	35005556	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0481294990811233	0.162
18	32585520	A	T	18	35005556	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.225717161231706	0.408
18	32585521	A	C	18	35005557	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00147476233483463	0.002
18	32585521	A	G	18	35005557	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00147476233483463	0.002
18	32585521	A	T	18	35005557	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00133414964176908	0.002
18	32585522	G	A	18	35005558	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00445633766814011	0.03
18	32585522	G	C	18	35005558	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00330501632645371	0.066
18	32585522	G	T	18	35005558	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00514446563520427	0.032
18	32585523	G	A	18	35005559	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.08219094650856E-4	0.004
18	32585523	G	C	18	35005559	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.2872901672339E-4	0.004
18	32585523	G	T	18	35005559	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.08219094650856E-4	0.004
18	32585524	T	A	18	35005560	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.02056512274483E-4	0.086
18	32585524	T	C	18	35005560	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.49229997755661E-4	0.112
18	32585524	T	G	18	35005560	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.49229997755661E-4	0.112
18	32585525	T	A	18	35005561	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.18871335092337E-4	0.004
18	32585525	T	C	18	35005561	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.18871335092337E-4	0.004
18	32585525	T	G	18	35005561	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.18871335092337E-4	0.004
18	32621623	C	A	18	35041659	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_014268:exon1:c.C120A:p.Y40X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000300249:exon1:c.C120A:p.Y40X;ENSG00000166974:ENST00000588910:exon1:c.C120A:p.Y40X;	0.953417204287069	0.832
18	32621623	C	G	18	35041659	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_014268:exon1:c.C120G:p.Y40X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000300249:exon1:c.C120G:p.Y40X;ENSG00000166974:ENST00000588910:exon1:c.C120G:p.Y40X;	0.883302691475093	0.706
18	32621623	C	T	18	35041659	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001256420:exon1:c.C89T:p.T30I;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000538170:exon1:c.C89T:p.T30I;	0.998630507298978	0.958
18	32621624	A	C	18	35041660	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon1:c.A121C:p.S41R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon1:c.A121C:p.S41R;ENSG00000166974:ENST00000588910:exon1:c.A121C:p.S41R;	0.999748792007709	0.986
18	32621624	A	G	18	35041660	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon1:c.A121G:p.S41G;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon1:c.A121G:p.S41G;ENSG00000166974:ENST00000588910:exon1:c.A121G:p.S41G;	0.99987802492367	0.998
18	32621624	A	T	18	35041660	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon1:c.A121T:p.S41C;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon1:c.A121T:p.S41C;ENSG00000166974:ENST00000588910:exon1:c.A121T:p.S41C;	0.999826826566632	0.996
18	32621625	G	A	18	35041661	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon1:c.G122A:p.S41N;MAPRE2:NM_001256420:exon1:c.G91A:p.G31R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon1:c.G122A:p.S41N;ENSG00000166974:ENST00000538170:exon1:c.G91A:p.G31R;ENSG00000166974:ENST00000588910:exon1:c.G122A:p.S41N;	0.999993746928746	1.0
18	32621625	G	C	18	35041661	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon1:c.G122C:p.S41T;MAPRE2:NM_001256420:exon1:c.G91C:p.G31R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon1:c.G122C:p.S41T;ENSG00000166974:ENST00000538170:exon1:c.G91C:p.G31R;ENSG00000166974:ENST00000588910:exon1:c.G122C:p.S41T;	0.999998057617954	1.0
18	32621625	G	T	18	35041661	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_001256420:exon1:c.G91T:p.G31X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000538170:exon1:c.G91T:p.G31X;	0.99999006121748	0.976
18	32621626	G	A	18	35041662	y	y	splicing	MAPRE2(NM_014268:exon1:c.122+1G>A;NM_001256420:exon1:c.91+1G>A)	.	.	splicing	ENSG00000166974(ENST00000300249:exon1:c.122+1G>A;ENST00000538170:exon1:c.91+1G>A;ENST00000588910:exon1:c.122+1G>A)	.	.	0.999985532734767	0.936
18	32621626	G	C	18	35041662	y	y	splicing	MAPRE2(NM_014268:exon1:c.122+1G>C;NM_001256420:exon1:c.91+1G>C)	.	.	splicing	ENSG00000166974(ENST00000300249:exon1:c.122+1G>C;ENST00000538170:exon1:c.91+1G>C;ENST00000588910:exon1:c.122+1G>C)	.	.	0.999985532734767	0.936
18	32621626	G	T	18	35041662	y	y	splicing	MAPRE2(NM_014268:exon1:c.122+1G>T;NM_001256420:exon1:c.91+1G>T)	.	.	splicing	ENSG00000166974(ENST00000300249:exon1:c.122+1G>T;ENST00000538170:exon1:c.91+1G>T;ENST00000588910:exon1:c.122+1G>T)	.	.	0.999985532734767	0.936
18	32621627	T	A	18	35041663	y	y	splicing	MAPRE2(NM_014268:exon1:c.122+2T>A;NM_001256420:exon1:c.91+2T>A)	.	.	splicing	ENSG00000166974(ENST00000300249:exon1:c.122+2T>A;ENST00000538170:exon1:c.91+2T>A;ENST00000588910:exon1:c.122+2T>A)	.	.	0.999988247793601	0.928
18	32621627	T	C	18	35041663	y	y	splicing	MAPRE2(NM_014268:exon1:c.122+2T>C;NM_001256420:exon1:c.91+2T>C)	.	.	splicing	ENSG00000166974(ENST00000300249:exon1:c.122+2T>C;ENST00000538170:exon1:c.91+2T>C;ENST00000588910:exon1:c.122+2T>C)	.	.	0.99340600729494	0.644
18	32621627	T	G	18	35041663	y	y	splicing	MAPRE2(NM_014268:exon1:c.122+2T>G;NM_001256420:exon1:c.91+2T>G)	.	.	splicing	ENSG00000166974(ENST00000300249:exon1:c.122+2T>G;ENST00000538170:exon1:c.91+2T>G;ENST00000588910:exon1:c.122+2T>G)	.	.	0.999988247793601	0.928
18	32621628	A	C	18	35041664	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.99978063664935	0.882
18	32621628	A	G	18	35041664	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.999020484533201	0.894
18	32621628	A	T	18	35041664	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.999907993612591	0.808
18	32621629	A	C	18	35041665	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.313911155353676	0.334
18	32621629	A	G	18	35041665	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.954863249624594	0.582
18	32621629	A	T	18	35041665	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.910633608073526	0.44
18	32621630	T	A	18	35041666	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.0296067657683454	0.088
18	32621630	T	C	18	35041666	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.00352521254326715	0.088
18	32621630	T	G	18	35041666	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	6.23727502711146E-4	0.036
18	32621631	G	A	18	35041667	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.0293422944820488	0.16
18	32621631	G	C	18	35041667	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.0523643804460542	0.288
18	32621631	G	T	18	35041667	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.00399644643776678	0.056
18	32621632	G	A	18	35041668	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.012044368948047	0.046
18	32621632	G	C	18	35041668	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.0115619604473377	0.046
18	32621632	G	T	18	35041668	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.0139057331534267	0.044
18	32621633	G	A	18	35041669	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.0164296203250284	0.042
18	32621633	G	C	18	35041669	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.0115619604473377	0.04
18	32621633	G	T	18	35041669	y	y	intronic	MAPRE2	.	.	UTR5	ENSG00000166974	.	.	0.0100240723340795	0.044
18	32650147	T	A	18	35070183	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.20069495949018E-4	0.082
18	32650147	T	C	18	35070183	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.8668233290699E-5	0.006
18	32650147	T	G	18	35070183	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.91297296183662E-5	0.038
18	32650148	T	A	18	35070184	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00496574836775508	0.306
18	32650148	T	C	18	35070184	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00320847597175304	0.036
18	32650148	T	G	18	35070184	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00347144574946688	0.266
18	32650149	T	A	18	35070185	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00290351184043424	0.114
18	32650149	T	C	18	35070185	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.31286965316952E-4	0.01
18	32650149	T	G	18	35070185	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00259690381122812	0.156
18	32650150	T	A	18	35070186	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.89260301372992E-4	0.032
18	32650150	T	C	18	35070186	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.36754009506594E-5	0.026
18	32650150	T	G	18	35070186	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.72365184880856E-4	0.088
18	32650151	T	A	18	35070187	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00786482015701301	0.1
18	32650151	T	C	18	35070187	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.05129276351099E-4	0.008
18	32650151	T	G	18	35070187	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00285699304103979	0.096
18	32650152	T	A	18	35070188	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.13658533908752E-4	0.06
18	32650152	T	C	18	35070188	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.37301886105345E-5	0.0
18	32650152	T	G	18	35070188	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.91673224780512E-4	0.064
18	32650153	T	A	18	35070189	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.119858930904644	0.222
18	32650153	T	C	18	35070189	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0028315124129736	0.05
18	32650153	T	G	18	35070189	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0552355346269445	0.222
18	32650154	T	A	18	35070190	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00242605646254637	0.138
18	32650154	T	C	18	35070190	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.65421350946799E-4	0.012
18	32650154	T	G	18	35070190	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00267169514985615	0.176
18	32650155	C	A	18	35070191	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0012359671157876	0.092
18	32650155	C	G	18	35070191	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00257974052375648	0.124
18	32650155	C	T	18	35070191	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00107891043627736	0.02
18	32650156	T	A	18	35070192	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0275442571081201	0.338
18	32650156	T	C	18	35070192	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.16930694028026E-5	0.006
18	32650156	T	G	18	35070192	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.994834844268977	0.722
18	32650157	A	C	18	35070193	y	y	splicing	MAPRE2(NM_001143827:exon3:c.87-2A>C;NM_014268:exon2:c.123-2A>C)	.	.	splicing	ENSG00000166974(ENST00000436190:exon3:c.87-2A>C;ENST00000300249:exon2:c.123-2A>C;ENST00000588910:exon2:c.123-2A>C)	.	.	0.999989917668626	0.928
18	32650157	A	G	18	35070193	y	y	splicing	MAPRE2(NM_001143827:exon3:c.87-2A>G;NM_014268:exon2:c.123-2A>G)	.	.	splicing	ENSG00000166974(ENST00000436190:exon3:c.87-2A>G;ENST00000300249:exon2:c.123-2A>G;ENST00000588910:exon2:c.123-2A>G)	.	.	0.999989917668626	0.928
18	32650157	A	T	18	35070193	y	y	splicing	MAPRE2(NM_001143827:exon3:c.87-2A>T;NM_014268:exon2:c.123-2A>T)	.	.	splicing	ENSG00000166974(ENST00000436190:exon3:c.87-2A>T;ENST00000300249:exon2:c.123-2A>T;ENST00000588910:exon2:c.123-2A>T)	.	.	0.999989917668626	0.928
18	32650158	G	A	18	35070194	y	y	splicing	MAPRE2(NM_001143827:exon3:c.87-1G>A;NM_014268:exon2:c.123-1G>A)	.	.	splicing	ENSG00000166974(ENST00000436190:exon3:c.87-1G>A;ENST00000300249:exon2:c.123-1G>A;ENST00000588910:exon2:c.123-1G>A)	.	.	0.999981760802075	0.938
18	32650158	G	C	18	35070194	y	y	splicing	MAPRE2(NM_001143827:exon3:c.87-1G>C;NM_014268:exon2:c.123-1G>C)	.	.	splicing	ENSG00000166974(ENST00000436190:exon3:c.87-1G>C;ENST00000300249:exon2:c.123-1G>C;ENST00000588910:exon2:c.123-1G>C)	.	.	0.999981760802075	0.938
18	32650158	G	T	18	35070194	y	y	splicing	MAPRE2(NM_001143827:exon3:c.87-1G>T;NM_014268:exon2:c.123-1G>T)	.	.	splicing	ENSG00000166974(ENST00000436190:exon3:c.87-1G>T;ENST00000300249:exon2:c.123-1G>T;ENST00000588910:exon2:c.123-1G>T)	.	.	0.999981760802075	0.938
18	32650159	T	A	18	35070195	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon2:c.T123A:p.S41R;MAPRE2:NM_001143827:exon3:c.T87A:p.S29R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon2:c.T123A:p.S41R;ENSG00000166974:ENST00000588910:exon2:c.T123A:p.S41R;ENSG00000166974:ENST00000436190:exon3:c.T87A:p.S29R;	2.26499636505775E-5	0.158
18	32650159	T	C	18	35070195	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_014268:exon2:c.T123C:p.S41S;MAPRE2:NM_001143827:exon3:c.T87C:p.S29S;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000300249:exon2:c.T123C:p.S41S;ENSG00000166974:ENST00000588910:exon2:c.T123C:p.S41S;ENSG00000166974:ENST00000436190:exon3:c.T87C:p.S29S;	4.95054681953925E-5	0.024
18	32650159	T	G	18	35070195	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon2:c.T123G:p.S41R;MAPRE2:NM_001143827:exon3:c.T87G:p.S29R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon2:c.T123G:p.S41R;ENSG00000166974:ENST00000588910:exon2:c.T123G:p.S41R;ENSG00000166974:ENST00000436190:exon3:c.T87G:p.S29R;	8.06431753324774E-5	0.23
18	32650160	T	A	18	35070196	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon2:c.T124A:p.W42R;MAPRE2:NM_001143827:exon3:c.T88A:p.W30R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon2:c.T124A:p.W42R;ENSG00000166974:ENST00000588910:exon2:c.T124A:p.W42R;ENSG00000166974:ENST00000436190:exon3:c.T88A:p.W30R;	0.260617693863559	0.534
18	32650160	T	C	18	35070196	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon2:c.T124C:p.W42R;MAPRE2:NM_001143827:exon3:c.T88C:p.W30R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon2:c.T124C:p.W42R;ENSG00000166974:ENST00000588910:exon2:c.T124C:p.W42R;ENSG00000166974:ENST00000436190:exon3:c.T88C:p.W30R;	0.245295818100845	0.576
18	32650160	T	G	18	35070196	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_014268:exon2:c.T124G:p.W42G;MAPRE2:NM_001143827:exon3:c.T88G:p.W30G;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000300249:exon2:c.T124G:p.W42G;ENSG00000166974:ENST00000588910:exon2:c.T124G:p.W42G;ENSG00000166974:ENST00000436190:exon3:c.T88G:p.W30G;	0.229720553913761	0.516
18	32650284	C	A	18	35070320	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_001143826:exon3:c.C119A:p.S40X;MAPRE2:NM_014268:exon2:c.C248A:p.S83X;MAPRE2:NM_001143827:exon3:c.C212A:p.S71X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000413393:exon3:c.C119A:p.S40X;ENSG00000166974:ENST00000300249:exon2:c.C248A:p.S83X;ENSG00000166974:ENST00000588910:exon2:c.C248A:p.S83X;ENSG00000166974:ENST00000591734:exon3:c.C119A:p.S40X;ENSG00000166974:ENST00000587359:exon4:c.C119A:p.S40X;ENSG00000166974:ENST00000589699:exon2:c.C119A:p.S40X;ENSG00000166974:ENST00000436190:exon3:c.C212A:p.S71X;ENSG00000166974:ENST00000588349:exon3:c.C119A:p.S40X;	0.933185394762834	0.824
18	32650284	C	G	18	35070320	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_001143826:exon3:c.C119G:p.S40X;MAPRE2:NM_014268:exon2:c.C248G:p.S83X;MAPRE2:NM_001143827:exon3:c.C212G:p.S71X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000413393:exon3:c.C119G:p.S40X;ENSG00000166974:ENST00000300249:exon2:c.C248G:p.S83X;ENSG00000166974:ENST00000588910:exon2:c.C248G:p.S83X;ENSG00000166974:ENST00000591734:exon3:c.C119G:p.S40X;ENSG00000166974:ENST00000587359:exon4:c.C119G:p.S40X;ENSG00000166974:ENST00000589699:exon2:c.C119G:p.S40X;ENSG00000166974:ENST00000436190:exon3:c.C212G:p.S71X;ENSG00000166974:ENST00000588349:exon3:c.C119G:p.S40X;	0.890096266494016	0.644
18	32650284	C	T	18	35070320	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon3:c.C119T:p.S40L;MAPRE2:NM_014268:exon2:c.C248T:p.S83L;MAPRE2:NM_001143827:exon3:c.C212T:p.S71L;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon3:c.C119T:p.S40L;ENSG00000166974:ENST00000300249:exon2:c.C248T:p.S83L;ENSG00000166974:ENST00000588910:exon2:c.C248T:p.S83L;ENSG00000166974:ENST00000591734:exon3:c.C119T:p.S40L;ENSG00000166974:ENST00000587359:exon4:c.C119T:p.S40L;ENSG00000166974:ENST00000589699:exon2:c.C119T:p.S40L;ENSG00000166974:ENST00000436190:exon3:c.C212T:p.S71L;ENSG00000166974:ENST00000588349:exon3:c.C119T:p.S40L;	0.995738366634143	0.738
18	32650285	A	C	18	35070321	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon3:c.A120C:p.S40S;MAPRE2:NM_014268:exon2:c.A249C:p.S83S;MAPRE2:NM_001143827:exon3:c.A213C:p.S71S;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon3:c.A120C:p.S40S;ENSG00000166974:ENST00000300249:exon2:c.A249C:p.S83S;ENSG00000166974:ENST00000588910:exon2:c.A249C:p.S83S;ENSG00000166974:ENST00000591734:exon3:c.A120C:p.S40S;ENSG00000166974:ENST00000587359:exon4:c.A120C:p.S40S;ENSG00000166974:ENST00000589699:exon2:c.A120C:p.S40S;ENSG00000166974:ENST00000436190:exon3:c.A213C:p.S71S;ENSG00000166974:ENST00000588349:exon3:c.A120C:p.S40S;	0.984406793449834	0.85
18	32650285	A	G	18	35070321	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon3:c.A120G:p.S40S;MAPRE2:NM_014268:exon2:c.A249G:p.S83S;MAPRE2:NM_001143827:exon3:c.A213G:p.S71S;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon3:c.A120G:p.S40S;ENSG00000166974:ENST00000300249:exon2:c.A249G:p.S83S;ENSG00000166974:ENST00000588910:exon2:c.A249G:p.S83S;ENSG00000166974:ENST00000591734:exon3:c.A120G:p.S40S;ENSG00000166974:ENST00000587359:exon4:c.A120G:p.S40S;ENSG00000166974:ENST00000589699:exon2:c.A120G:p.S40S;ENSG00000166974:ENST00000436190:exon3:c.A213G:p.S71S;ENSG00000166974:ENST00000588349:exon3:c.A120G:p.S40S;	0.989658396454892	0.958
18	32650285	A	T	18	35070321	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon3:c.A120T:p.S40S;MAPRE2:NM_014268:exon2:c.A249T:p.S83S;MAPRE2:NM_001143827:exon3:c.A213T:p.S71S;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon3:c.A120T:p.S40S;ENSG00000166974:ENST00000300249:exon2:c.A249T:p.S83S;ENSG00000166974:ENST00000588910:exon2:c.A249T:p.S83S;ENSG00000166974:ENST00000591734:exon3:c.A120T:p.S40S;ENSG00000166974:ENST00000587359:exon4:c.A120T:p.S40S;ENSG00000166974:ENST00000589699:exon2:c.A120T:p.S40S;ENSG00000166974:ENST00000436190:exon3:c.A213T:p.S71S;ENSG00000166974:ENST00000588349:exon3:c.A120T:p.S40S;	0.982734382502516	0.674
18	32650286	G	A	18	35070322	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon3:c.G121A:p.G41R;MAPRE2:NM_014268:exon2:c.G250A:p.G84R;MAPRE2:NM_001143827:exon3:c.G214A:p.G72R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon3:c.G121A:p.G41R;ENSG00000166974:ENST00000300249:exon2:c.G250A:p.G84R;ENSG00000166974:ENST00000588910:exon2:c.G250A:p.G84R;ENSG00000166974:ENST00000591734:exon3:c.G121A:p.G41R;ENSG00000166974:ENST00000587359:exon4:c.G121A:p.G41R;ENSG00000166974:ENST00000589699:exon2:c.G121A:p.G41R;ENSG00000166974:ENST00000436190:exon3:c.G214A:p.G72R;ENSG00000166974:ENST00000588349:exon3:c.G121A:p.G41R;	0.999799860052546	0.982
18	32650286	G	C	18	35070322	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon3:c.G121C:p.G41R;MAPRE2:NM_014268:exon2:c.G250C:p.G84R;MAPRE2:NM_001143827:exon3:c.G214C:p.G72R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon3:c.G121C:p.G41R;ENSG00000166974:ENST00000300249:exon2:c.G250C:p.G84R;ENSG00000166974:ENST00000588910:exon2:c.G250C:p.G84R;ENSG00000166974:ENST00000591734:exon3:c.G121C:p.G41R;ENSG00000166974:ENST00000587359:exon4:c.G121C:p.G41R;ENSG00000166974:ENST00000589699:exon2:c.G121C:p.G41R;ENSG00000166974:ENST00000436190:exon3:c.G214C:p.G72R;ENSG00000166974:ENST00000588349:exon3:c.G121C:p.G41R;	0.999904822476366	0.972
18	32650286	G	T	18	35070322	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_001143826:exon3:c.G121T:p.G41X;MAPRE2:NM_014268:exon2:c.G250T:p.G84X;MAPRE2:NM_001143827:exon3:c.G214T:p.G72X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000413393:exon3:c.G121T:p.G41X;ENSG00000166974:ENST00000300249:exon2:c.G250T:p.G84X;ENSG00000166974:ENST00000588910:exon2:c.G250T:p.G84X;ENSG00000166974:ENST00000591734:exon3:c.G121T:p.G41X;ENSG00000166974:ENST00000587359:exon4:c.G121T:p.G41X;ENSG00000166974:ENST00000589699:exon2:c.G121T:p.G41X;ENSG00000166974:ENST00000436190:exon3:c.G214T:p.G72X;ENSG00000166974:ENST00000588349:exon3:c.G121T:p.G41X;	0.999851028244908	0.944
18	32650287	G	A	18	35070323	y	y	splicing	MAPRE2(NM_001143826:exon3:c.121+1G>A;NM_001143827:exon3:c.214+1G>A;NM_014268:exon2:c.250+1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon3:c.121+1G>A;ENST00000591734:exon3:c.121+1G>A;ENST00000587359:exon4:c.121+1G>A;ENST00000436190:exon3:c.214+1G>A;ENST00000588349:exon3:c.121+1G>A;ENST00000300249:exon2:c.250+1G>A;ENST00000588910:exon2:c.250+1G>A;ENST00000589699:exon2:c.121+1G>A)	.	.	0.999981760802075	0.944
18	32650287	G	C	18	35070323	y	y	splicing	MAPRE2(NM_001143826:exon3:c.121+1G>C;NM_001143827:exon3:c.214+1G>C;NM_014268:exon2:c.250+1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon3:c.121+1G>C;ENST00000591734:exon3:c.121+1G>C;ENST00000587359:exon4:c.121+1G>C;ENST00000436190:exon3:c.214+1G>C;ENST00000588349:exon3:c.121+1G>C;ENST00000300249:exon2:c.250+1G>C;ENST00000588910:exon2:c.250+1G>C;ENST00000589699:exon2:c.121+1G>C)	.	.	0.999981760802075	0.944
18	32650287	G	T	18	35070323	y	y	splicing	MAPRE2(NM_001143826:exon3:c.121+1G>T;NM_001143827:exon3:c.214+1G>T;NM_014268:exon2:c.250+1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon3:c.121+1G>T;ENST00000591734:exon3:c.121+1G>T;ENST00000587359:exon4:c.121+1G>T;ENST00000436190:exon3:c.214+1G>T;ENST00000588349:exon3:c.121+1G>T;ENST00000300249:exon2:c.250+1G>T;ENST00000588910:exon2:c.250+1G>T;ENST00000589699:exon2:c.121+1G>T)	.	.	0.999981760802075	0.944
18	32650288	T	A	18	35070324	y	y	splicing	MAPRE2(NM_001143826:exon3:c.121+2T>A;NM_001143827:exon3:c.214+2T>A;NM_014268:exon2:c.250+2T>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon3:c.121+2T>A;ENST00000591734:exon3:c.121+2T>A;ENST00000587359:exon4:c.121+2T>A;ENST00000436190:exon3:c.214+2T>A;ENST00000588349:exon3:c.121+2T>A;ENST00000300249:exon2:c.250+2T>A;ENST00000588910:exon2:c.250+2T>A;ENST00000589699:exon2:c.121+2T>A)	.	.	0.999989917668626	0.928
18	32650288	T	C	18	35070324	y	y	splicing	MAPRE2(NM_001143826:exon3:c.121+2T>C;NM_001143827:exon3:c.214+2T>C;NM_014268:exon2:c.250+2T>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon3:c.121+2T>C;ENST00000591734:exon3:c.121+2T>C;ENST00000587359:exon4:c.121+2T>C;ENST00000436190:exon3:c.214+2T>C;ENST00000588349:exon3:c.121+2T>C;ENST00000300249:exon2:c.250+2T>C;ENST00000588910:exon2:c.250+2T>C;ENST00000589699:exon2:c.121+2T>C)	.	.	0.993179459523591	0.644
18	32650288	T	G	18	35070324	y	y	splicing	MAPRE2(NM_001143826:exon3:c.121+2T>G;NM_001143827:exon3:c.214+2T>G;NM_014268:exon2:c.250+2T>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon3:c.121+2T>G;ENST00000591734:exon3:c.121+2T>G;ENST00000587359:exon4:c.121+2T>G;ENST00000436190:exon3:c.214+2T>G;ENST00000588349:exon3:c.121+2T>G;ENST00000300249:exon2:c.250+2T>G;ENST00000588910:exon2:c.250+2T>G;ENST00000589699:exon2:c.121+2T>G)	.	.	0.999989917668626	0.928
18	32650289	A	C	18	35070325	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.993954130415386	0.912
18	32650289	A	G	18	35070325	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.232231161369461	0.284
18	32650289	A	T	18	35070325	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.996558728814589	0.888
18	32650290	A	C	18	35070326	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.979098568487599	0.792
18	32650290	A	G	18	35070326	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.984552721072369	0.762
18	32650290	A	T	18	35070326	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.976923581018165	0.818
18	32650291	G	A	18	35070327	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.994652698913343	0.798
18	32650291	G	C	18	35070327	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.977557810137176	0.784
18	32650291	G	T	18	35070327	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.987967494075583	0.712
18	32650292	A	C	18	35070328	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0226808173280724	0.166
18	32650292	A	G	18	35070328	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00328741721980149	0.032
18	32650292	A	T	18	35070328	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00248801565758502	0.054
18	32650293	C	A	18	35070329	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.80631153661865E-4	0.024
18	32650293	C	G	18	35070329	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.97428738204306E-4	0.002
18	32650293	C	T	18	35070329	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.90126792174194E-4	0.008
18	32650294	A	C	18	35070330	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.86867110297081E-4	0.008
18	32650294	A	G	18	35070330	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.86867110297081E-4	0.006
18	32650294	A	T	18	35070330	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.71068638037575E-4	0.008
18	32677398	G	A	18	35097434	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.57067444011606E-5	0.016
18	32677398	G	C	18	35097434	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.04951984052605E-5	0.002
18	32677398	G	T	18	35097434	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.16529253967812E-4	0.004
18	32677399	T	A	18	35097435	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00154967208392654	0.214
18	32677399	T	C	18	35097435	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00172436033500773	0.024
18	32677399	T	G	18	35097435	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.80722878102574E-4	0.154
18	32677400	T	A	18	35097436	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.57630933983266E-4	0.04
18	32677400	T	C	18	35097436	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.90986162043232E-5	0.014
18	32677400	T	G	18	35097436	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.84431145054293E-5	0.068
18	32677401	T	A	18	35097437	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.49978385116608E-4	0.064
18	32677401	T	C	18	35097437	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.98657405456821E-4	0.016
18	32677401	T	G	18	35097437	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.15624122180626E-4	0.046
18	32677402	C	A	18	35097438	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00320470613560115	0.084
18	32677402	C	G	18	35097438	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00215511337941046	0.058
18	32677402	C	T	18	35097438	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0011102669400014	0.01
18	32677403	T	A	18	35097439	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00112179892295633	0.054
18	32677403	T	C	18	35097439	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.58802240648223E-4	0.002
18	32677403	T	G	18	35097439	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00120395209721205	0.062
18	32677404	T	A	18	35097440	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.71213267624704E-4	0.066
18	32677404	T	C	18	35097440	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.94929565533261E-4	0.002
18	32677404	T	G	18	35097440	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00149157383447815	0.204
18	32677405	T	A	18	35097441	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.31844494053948E-4	0.096
18	32677405	T	C	18	35097441	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.71998781770726E-4	0.066
18	32677405	T	G	18	35097441	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.8589040843748E-4	0.176
18	32677406	C	A	18	35097442	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.40444313752333E-4	0.02
18	32677406	C	G	18	35097442	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.89956139381531E-4	0.006
18	32677406	C	T	18	35097442	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.44233569096576E-4	0.022
18	32677407	C	A	18	35097443	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0576602181725907	0.328
18	32677407	C	G	18	35097443	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.912235972064635	0.656
18	32677407	C	T	18	35097443	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00124113772290848	0.168
18	32677408	A	C	18	35097444	y	y	splicing	MAPRE2(NM_001143826:exon4:c.122-2A>C;NM_001143827:exon4:c.215-2A>C;NM_014268:exon3:c.251-2A>C;NM_001256420:exon2:c.92-2A>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.122-2A>C;ENST00000591734:exon4:c.122-2A>C;ENST00000587359:exon5:c.122-2A>C;ENST00000436190:exon4:c.215-2A>C;ENST00000588349:exon4:c.122-2A>C;ENST00000300249:exon3:c.251-2A>C;ENST00000538170:exon2:c.92-2A>C;ENST00000588910:exon3:c.251-2A>C;ENST00000589699:exon3:c.122-2A>C)	.	.	0.999988247793601	0.928
18	32677408	A	G	18	35097444	y	y	splicing	MAPRE2(NM_001143826:exon4:c.122-2A>G;NM_001143827:exon4:c.215-2A>G;NM_014268:exon3:c.251-2A>G;NM_001256420:exon2:c.92-2A>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.122-2A>G;ENST00000591734:exon4:c.122-2A>G;ENST00000587359:exon5:c.122-2A>G;ENST00000436190:exon4:c.215-2A>G;ENST00000588349:exon4:c.122-2A>G;ENST00000300249:exon3:c.251-2A>G;ENST00000538170:exon2:c.92-2A>G;ENST00000588910:exon3:c.251-2A>G;ENST00000589699:exon3:c.122-2A>G)	.	.	0.999988247793601	0.928
18	32677408	A	T	18	35097444	y	y	splicing	MAPRE2(NM_001143826:exon4:c.122-2A>T;NM_001143827:exon4:c.215-2A>T;NM_014268:exon3:c.251-2A>T;NM_001256420:exon2:c.92-2A>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.122-2A>T;ENST00000591734:exon4:c.122-2A>T;ENST00000587359:exon5:c.122-2A>T;ENST00000436190:exon4:c.215-2A>T;ENST00000588349:exon4:c.122-2A>T;ENST00000300249:exon3:c.251-2A>T;ENST00000538170:exon2:c.92-2A>T;ENST00000588910:exon3:c.251-2A>T;ENST00000589699:exon3:c.122-2A>T)	.	.	0.999988247793601	0.928
18	32677409	G	A	18	35097445	y	y	splicing	MAPRE2(NM_001143826:exon4:c.122-1G>A;NM_001143827:exon4:c.215-1G>A;NM_014268:exon3:c.251-1G>A;NM_001256420:exon2:c.92-1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.122-1G>A;ENST00000591734:exon4:c.122-1G>A;ENST00000587359:exon5:c.122-1G>A;ENST00000436190:exon4:c.215-1G>A;ENST00000588349:exon4:c.122-1G>A;ENST00000300249:exon3:c.251-1G>A;ENST00000538170:exon2:c.92-1G>A;ENST00000588910:exon3:c.251-1G>A;ENST00000589699:exon3:c.122-1G>A)	.	.	0.999986675681007	0.934
18	32677409	G	C	18	35097445	y	y	splicing	MAPRE2(NM_001143826:exon4:c.122-1G>C;NM_001143827:exon4:c.215-1G>C;NM_014268:exon3:c.251-1G>C;NM_001256420:exon2:c.92-1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.122-1G>C;ENST00000591734:exon4:c.122-1G>C;ENST00000587359:exon5:c.122-1G>C;ENST00000436190:exon4:c.215-1G>C;ENST00000588349:exon4:c.122-1G>C;ENST00000300249:exon3:c.251-1G>C;ENST00000538170:exon2:c.92-1G>C;ENST00000588910:exon3:c.251-1G>C;ENST00000589699:exon3:c.122-1G>C)	.	.	0.999986675681007	0.934
18	32677409	G	T	18	35097445	y	y	splicing	MAPRE2(NM_001143826:exon4:c.122-1G>T;NM_001143827:exon4:c.215-1G>T;NM_014268:exon3:c.251-1G>T;NM_001256420:exon2:c.92-1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.122-1G>T;ENST00000591734:exon4:c.122-1G>T;ENST00000587359:exon5:c.122-1G>T;ENST00000436190:exon4:c.215-1G>T;ENST00000588349:exon4:c.122-1G>T;ENST00000300249:exon3:c.251-1G>T;ENST00000538170:exon2:c.92-1G>T;ENST00000588910:exon3:c.251-1G>T;ENST00000589699:exon3:c.122-1G>T)	.	.	0.999986675681007	0.934
18	32677410	G	A	18	35097446	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.G122A:p.G41E;MAPRE2:NM_014268:exon3:c.G251A:p.G84E;MAPRE2:NM_001143827:exon4:c.G215A:p.G72E;MAPRE2:NM_001256420:exon2:c.G92A:p.G31E;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.G122A:p.G41E;ENSG00000166974:ENST00000300249:exon3:c.G251A:p.G84E;ENSG00000166974:ENST00000538170:exon2:c.G92A:p.G31E;ENSG00000166974:ENST00000588910:exon3:c.G251A:p.G84E;ENSG00000166974:ENST00000591734:exon4:c.G122A:p.G41E;ENSG00000166974:ENST00000587359:exon5:c.G122A:p.G41E;ENSG00000166974:ENST00000589699:exon3:c.G122A:p.G41E;ENSG00000166974:ENST00000436190:exon4:c.G215A:p.G72E;ENSG00000166974:ENST00000588349:exon4:c.G122A:p.G41E;	0.998794598996623	0.804
18	32677410	G	C	18	35097446	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.G122C:p.G41A;MAPRE2:NM_014268:exon3:c.G251C:p.G84A;MAPRE2:NM_001143827:exon4:c.G215C:p.G72A;MAPRE2:NM_001256420:exon2:c.G92C:p.G31A;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.G122C:p.G41A;ENSG00000166974:ENST00000300249:exon3:c.G251C:p.G84A;ENSG00000166974:ENST00000538170:exon2:c.G92C:p.G31A;ENSG00000166974:ENST00000588910:exon3:c.G251C:p.G84A;ENSG00000166974:ENST00000591734:exon4:c.G122C:p.G41A;ENSG00000166974:ENST00000587359:exon5:c.G122C:p.G41A;ENSG00000166974:ENST00000589699:exon3:c.G122C:p.G41A;ENSG00000166974:ENST00000436190:exon4:c.G215C:p.G72A;ENSG00000166974:ENST00000588349:exon4:c.G122C:p.G41A;	0.998347523446862	0.886
18	32677410	G	T	18	35097446	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.G122T:p.G41V;MAPRE2:NM_014268:exon3:c.G251T:p.G84V;MAPRE2:NM_001143827:exon4:c.G215T:p.G72V;MAPRE2:NM_001256420:exon2:c.G92T:p.G31V;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.G122T:p.G41V;ENSG00000166974:ENST00000300249:exon3:c.G251T:p.G84V;ENSG00000166974:ENST00000538170:exon2:c.G92T:p.G31V;ENSG00000166974:ENST00000588910:exon3:c.G251T:p.G84V;ENSG00000166974:ENST00000591734:exon4:c.G122T:p.G41V;ENSG00000166974:ENST00000587359:exon5:c.G122T:p.G41V;ENSG00000166974:ENST00000589699:exon3:c.G122T:p.G41V;ENSG00000166974:ENST00000436190:exon4:c.G215T:p.G72V;ENSG00000166974:ENST00000588349:exon4:c.G122T:p.G41V;	0.998402511319613	0.81
18	32677411	A	C	18	35097447	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon4:c.A123C:p.G41G;MAPRE2:NM_014268:exon3:c.A252C:p.G84G;MAPRE2:NM_001143827:exon4:c.A216C:p.G72G;MAPRE2:NM_001256420:exon2:c.A93C:p.G31G;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.A123C:p.G41G;ENSG00000166974:ENST00000300249:exon3:c.A252C:p.G84G;ENSG00000166974:ENST00000538170:exon2:c.A93C:p.G31G;ENSG00000166974:ENST00000588910:exon3:c.A252C:p.G84G;ENSG00000166974:ENST00000591734:exon4:c.A123C:p.G41G;ENSG00000166974:ENST00000587359:exon5:c.A123C:p.G41G;ENSG00000166974:ENST00000589699:exon3:c.A123C:p.G41G;ENSG00000166974:ENST00000436190:exon4:c.A216C:p.G72G;ENSG00000166974:ENST00000588349:exon4:c.A123C:p.G41G;	0.0203256456639082	0.076
18	32677411	A	G	18	35097447	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon4:c.A123G:p.G41G;MAPRE2:NM_014268:exon3:c.A252G:p.G84G;MAPRE2:NM_001143827:exon4:c.A216G:p.G72G;MAPRE2:NM_001256420:exon2:c.A93G:p.G31G;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.A123G:p.G41G;ENSG00000166974:ENST00000300249:exon3:c.A252G:p.G84G;ENSG00000166974:ENST00000538170:exon2:c.A93G:p.G31G;ENSG00000166974:ENST00000588910:exon3:c.A252G:p.G84G;ENSG00000166974:ENST00000591734:exon4:c.A123G:p.G41G;ENSG00000166974:ENST00000587359:exon5:c.A123G:p.G41G;ENSG00000166974:ENST00000589699:exon3:c.A123G:p.G41G;ENSG00000166974:ENST00000436190:exon4:c.A216G:p.G72G;ENSG00000166974:ENST00000588349:exon4:c.A123G:p.G41G;	0.00293882812589494	0.062
18	32677411	A	T	18	35097447	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon4:c.A123T:p.G41G;MAPRE2:NM_014268:exon3:c.A252T:p.G84G;MAPRE2:NM_001143827:exon4:c.A216T:p.G72G;MAPRE2:NM_001256420:exon2:c.A93T:p.G31G;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.A123T:p.G41G;ENSG00000166974:ENST00000300249:exon3:c.A252T:p.G84G;ENSG00000166974:ENST00000538170:exon2:c.A93T:p.G31G;ENSG00000166974:ENST00000588910:exon3:c.A252T:p.G84G;ENSG00000166974:ENST00000591734:exon4:c.A123T:p.G41G;ENSG00000166974:ENST00000587359:exon5:c.A123T:p.G41G;ENSG00000166974:ENST00000589699:exon3:c.A123T:p.G41G;ENSG00000166974:ENST00000436190:exon4:c.A216T:p.G72G;ENSG00000166974:ENST00000588349:exon4:c.A123T:p.G41G;	0.00228075677892976	0.07
18	32677553	A	C	18	35097589	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.A265C:p.K89Q;MAPRE2:NM_014268:exon3:c.A394C:p.K132Q;MAPRE2:NM_001143827:exon4:c.A358C:p.K120Q;MAPRE2:NM_001256420:exon2:c.A235C:p.K79Q;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.A265C:p.K89Q;ENSG00000166974:ENST00000300249:exon3:c.A394C:p.K132Q;ENSG00000166974:ENST00000538170:exon2:c.A235C:p.K79Q;ENSG00000166974:ENST00000588910:exon3:c.A394C:p.K132Q;ENSG00000166974:ENST00000589180:exon4:c.A112C:p.K38Q;ENSG00000166974:ENST00000591734:exon4:c.A265C:p.K89Q;ENSG00000166974:ENST00000589699:exon3:c.A265C:p.K89Q;ENSG00000166974:ENST00000436190:exon4:c.A358C:p.K120Q;ENSG00000166974:ENST00000588349:exon4:c.A265C:p.K89Q;	0.84007843456749	0.584
18	32677553	A	G	18	35097589	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.A265G:p.K89E;MAPRE2:NM_014268:exon3:c.A394G:p.K132E;MAPRE2:NM_001143827:exon4:c.A358G:p.K120E;MAPRE2:NM_001256420:exon2:c.A235G:p.K79E;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.A265G:p.K89E;ENSG00000166974:ENST00000300249:exon3:c.A394G:p.K132E;ENSG00000166974:ENST00000538170:exon2:c.A235G:p.K79E;ENSG00000166974:ENST00000588910:exon3:c.A394G:p.K132E;ENSG00000166974:ENST00000589180:exon4:c.A112G:p.K38E;ENSG00000166974:ENST00000591734:exon4:c.A265G:p.K89E;ENSG00000166974:ENST00000589699:exon3:c.A265G:p.K89E;ENSG00000166974:ENST00000436190:exon4:c.A358G:p.K120E;ENSG00000166974:ENST00000588349:exon4:c.A265G:p.K89E;	0.843814813183945	0.518
18	32677553	A	T	18	35097589	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_001143826:exon4:c.A265T:p.K89X;MAPRE2:NM_014268:exon3:c.A394T:p.K132X;MAPRE2:NM_001143827:exon4:c.A358T:p.K120X;MAPRE2:NM_001256420:exon2:c.A235T:p.K79X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000413393:exon4:c.A265T:p.K89X;ENSG00000166974:ENST00000300249:exon3:c.A394T:p.K132X;ENSG00000166974:ENST00000538170:exon2:c.A235T:p.K79X;ENSG00000166974:ENST00000588910:exon3:c.A394T:p.K132X;ENSG00000166974:ENST00000589180:exon4:c.A112T:p.K38X;ENSG00000166974:ENST00000591734:exon4:c.A265T:p.K89X;ENSG00000166974:ENST00000589699:exon3:c.A265T:p.K89X;ENSG00000166974:ENST00000436190:exon4:c.A358T:p.K120X;ENSG00000166974:ENST00000588349:exon4:c.A265T:p.K89X;	0.997034856638536	0.786
18	32677554	A	C	18	35097590	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.A266C:p.K89T;MAPRE2:NM_014268:exon3:c.A395C:p.K132T;MAPRE2:NM_001143827:exon4:c.A359C:p.K120T;MAPRE2:NM_001256420:exon2:c.A236C:p.K79T;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.A266C:p.K89T;ENSG00000166974:ENST00000300249:exon3:c.A395C:p.K132T;ENSG00000166974:ENST00000538170:exon2:c.A236C:p.K79T;ENSG00000166974:ENST00000588910:exon3:c.A395C:p.K132T;ENSG00000166974:ENST00000589180:exon4:c.A113C:p.K38T;ENSG00000166974:ENST00000591734:exon4:c.A266C:p.K89T;ENSG00000166974:ENST00000589699:exon3:c.A266C:p.K89T;ENSG00000166974:ENST00000436190:exon4:c.A359C:p.K120T;ENSG00000166974:ENST00000588349:exon4:c.A266C:p.K89T;	0.99968670753681	0.956
18	32677554	A	G	18	35097590	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.A266G:p.K89R;MAPRE2:NM_014268:exon3:c.A395G:p.K132R;MAPRE2:NM_001143827:exon4:c.A359G:p.K120R;MAPRE2:NM_001256420:exon2:c.A236G:p.K79R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.A266G:p.K89R;ENSG00000166974:ENST00000300249:exon3:c.A395G:p.K132R;ENSG00000166974:ENST00000538170:exon2:c.A236G:p.K79R;ENSG00000166974:ENST00000588910:exon3:c.A395G:p.K132R;ENSG00000166974:ENST00000589180:exon4:c.A113G:p.K38R;ENSG00000166974:ENST00000591734:exon4:c.A266G:p.K89R;ENSG00000166974:ENST00000589699:exon3:c.A266G:p.K89R;ENSG00000166974:ENST00000436190:exon4:c.A359G:p.K120R;ENSG00000166974:ENST00000588349:exon4:c.A266G:p.K89R;	0.999933780639345	0.998
18	32677554	A	T	18	35097590	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.A266T:p.K89M;MAPRE2:NM_014268:exon3:c.A395T:p.K132M;MAPRE2:NM_001143827:exon4:c.A359T:p.K120M;MAPRE2:NM_001256420:exon2:c.A236T:p.K79M;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.A266T:p.K89M;ENSG00000166974:ENST00000300249:exon3:c.A395T:p.K132M;ENSG00000166974:ENST00000538170:exon2:c.A236T:p.K79M;ENSG00000166974:ENST00000588910:exon3:c.A395T:p.K132M;ENSG00000166974:ENST00000589180:exon4:c.A113T:p.K38M;ENSG00000166974:ENST00000591734:exon4:c.A266T:p.K89M;ENSG00000166974:ENST00000589699:exon3:c.A266T:p.K89M;ENSG00000166974:ENST00000436190:exon4:c.A359T:p.K120M;ENSG00000166974:ENST00000588349:exon4:c.A266T:p.K89M;	0.999898443425547	0.998
18	32677555	G	A	18	35097591	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon4:c.G267A:p.K89K;MAPRE2:NM_014268:exon3:c.G396A:p.K132K;MAPRE2:NM_001143827:exon4:c.G360A:p.K120K;MAPRE2:NM_001256420:exon2:c.G237A:p.K79K;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.G267A:p.K89K;ENSG00000166974:ENST00000300249:exon3:c.G396A:p.K132K;ENSG00000166974:ENST00000538170:exon2:c.G237A:p.K79K;ENSG00000166974:ENST00000588910:exon3:c.G396A:p.K132K;ENSG00000166974:ENST00000589180:exon4:c.G114A:p.K38K;ENSG00000166974:ENST00000591734:exon4:c.G267A:p.K89K;ENSG00000166974:ENST00000589699:exon3:c.G267A:p.K89K;ENSG00000166974:ENST00000436190:exon4:c.G360A:p.K120K;ENSG00000166974:ENST00000588349:exon4:c.G267A:p.K89K;	0.99993524255199	0.992
18	32677555	G	C	18	35097591	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.G267C:p.K89N;MAPRE2:NM_014268:exon3:c.G396C:p.K132N;MAPRE2:NM_001143827:exon4:c.G360C:p.K120N;MAPRE2:NM_001256420:exon2:c.G237C:p.K79N;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.G267C:p.K89N;ENSG00000166974:ENST00000300249:exon3:c.G396C:p.K132N;ENSG00000166974:ENST00000538170:exon2:c.G237C:p.K79N;ENSG00000166974:ENST00000588910:exon3:c.G396C:p.K132N;ENSG00000166974:ENST00000589180:exon4:c.G114C:p.K38N;ENSG00000166974:ENST00000591734:exon4:c.G267C:p.K89N;ENSG00000166974:ENST00000589699:exon3:c.G267C:p.K89N;ENSG00000166974:ENST00000436190:exon4:c.G360C:p.K120N;ENSG00000166974:ENST00000588349:exon4:c.G267C:p.K89N;	0.999993905243291	1.0
18	32677555	G	T	18	35097591	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon4:c.G267T:p.K89N;MAPRE2:NM_014268:exon3:c.G396T:p.K132N;MAPRE2:NM_001143827:exon4:c.G360T:p.K120N;MAPRE2:NM_001256420:exon2:c.G237T:p.K79N;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon4:c.G267T:p.K89N;ENSG00000166974:ENST00000300249:exon3:c.G396T:p.K132N;ENSG00000166974:ENST00000538170:exon2:c.G237T:p.K79N;ENSG00000166974:ENST00000588910:exon3:c.G396T:p.K132N;ENSG00000166974:ENST00000589180:exon4:c.G114T:p.K38N;ENSG00000166974:ENST00000591734:exon4:c.G267T:p.K89N;ENSG00000166974:ENST00000589699:exon3:c.G267T:p.K89N;ENSG00000166974:ENST00000436190:exon4:c.G360T:p.K120N;ENSG00000166974:ENST00000588349:exon4:c.G267T:p.K89N;	0.999987199464052	0.984
18	32677556	G	A	18	35097592	y	y	splicing	MAPRE2(NM_001143826:exon4:c.267+1G>A;NM_001143827:exon4:c.360+1G>A;NM_014268:exon3:c.396+1G>A;NM_001256420:exon2:c.237+1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.267+1G>A;ENST00000591734:exon4:c.267+1G>A;ENST00000589180:exon4:c.114+1G>A;ENST00000436190:exon4:c.360+1G>A;ENST00000588349:exon4:c.267+1G>A;ENST00000300249:exon3:c.396+1G>A;ENST00000538170:exon2:c.237+1G>A;ENST00000588910:exon3:c.396+1G>A;ENST00000589699:exon3:c.267+1G>A)	.	.	0.999993148181228	0.93
18	32677556	G	C	18	35097592	y	y	splicing	MAPRE2(NM_001143826:exon4:c.267+1G>C;NM_001143827:exon4:c.360+1G>C;NM_014268:exon3:c.396+1G>C;NM_001256420:exon2:c.237+1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.267+1G>C;ENST00000591734:exon4:c.267+1G>C;ENST00000589180:exon4:c.114+1G>C;ENST00000436190:exon4:c.360+1G>C;ENST00000588349:exon4:c.267+1G>C;ENST00000300249:exon3:c.396+1G>C;ENST00000538170:exon2:c.237+1G>C;ENST00000588910:exon3:c.396+1G>C;ENST00000589699:exon3:c.267+1G>C)	.	.	0.999993148181228	0.93
18	32677556	G	T	18	35097592	y	y	splicing	MAPRE2(NM_001143826:exon4:c.267+1G>T;NM_001143827:exon4:c.360+1G>T;NM_014268:exon3:c.396+1G>T;NM_001256420:exon2:c.237+1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.267+1G>T;ENST00000591734:exon4:c.267+1G>T;ENST00000589180:exon4:c.114+1G>T;ENST00000436190:exon4:c.360+1G>T;ENST00000588349:exon4:c.267+1G>T;ENST00000300249:exon3:c.396+1G>T;ENST00000538170:exon2:c.237+1G>T;ENST00000588910:exon3:c.396+1G>T;ENST00000589699:exon3:c.267+1G>T)	.	.	0.999993148181228	0.93
18	32677557	T	A	18	35097593	y	y	splicing	MAPRE2(NM_001143826:exon4:c.267+2T>A;NM_001143827:exon4:c.360+2T>A;NM_014268:exon3:c.396+2T>A;NM_001256420:exon2:c.237+2T>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.267+2T>A;ENST00000591734:exon4:c.267+2T>A;ENST00000589180:exon4:c.114+2T>A;ENST00000436190:exon4:c.360+2T>A;ENST00000588349:exon4:c.267+2T>A;ENST00000300249:exon3:c.396+2T>A;ENST00000538170:exon2:c.237+2T>A;ENST00000588910:exon3:c.396+2T>A;ENST00000589699:exon3:c.267+2T>A)	.	.	0.999981808176352	0.92
18	32677557	T	C	18	35097593	y	y	splicing	MAPRE2(NM_001143826:exon4:c.267+2T>C;NM_001143827:exon4:c.360+2T>C;NM_014268:exon3:c.396+2T>C;NM_001256420:exon2:c.237+2T>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.267+2T>C;ENST00000591734:exon4:c.267+2T>C;ENST00000589180:exon4:c.114+2T>C;ENST00000436190:exon4:c.360+2T>C;ENST00000588349:exon4:c.267+2T>C;ENST00000300249:exon3:c.396+2T>C;ENST00000538170:exon2:c.237+2T>C;ENST00000588910:exon3:c.396+2T>C;ENST00000589699:exon3:c.267+2T>C)	.	.	0.993058197519409	0.572
18	32677557	T	G	18	35097593	y	y	splicing	MAPRE2(NM_001143826:exon4:c.267+2T>G;NM_001143827:exon4:c.360+2T>G;NM_014268:exon3:c.396+2T>G;NM_001256420:exon2:c.237+2T>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon4:c.267+2T>G;ENST00000591734:exon4:c.267+2T>G;ENST00000589180:exon4:c.114+2T>G;ENST00000436190:exon4:c.360+2T>G;ENST00000588349:exon4:c.267+2T>G;ENST00000300249:exon3:c.396+2T>G;ENST00000538170:exon2:c.237+2T>G;ENST00000588910:exon3:c.396+2T>G;ENST00000589699:exon3:c.267+2T>G)	.	.	0.999981808176352	0.92
18	32677558	A	C	18	35097594	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.982790808281466	0.802
18	32677558	A	G	18	35097594	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.790013486991245	0.64
18	32677558	A	T	18	35097594	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.99289865940872	0.85
18	32677559	G	A	18	35097595	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.68123424167864E-4	0.074
18	32677559	G	C	18	35097595	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.61330711028752E-4	0.108
18	32677559	G	T	18	35097595	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.93698453626993E-4	0.042
18	32677560	G	A	18	35097596	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999103119965512	0.682
18	32677560	G	C	18	35097596	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999778949730782	0.83
18	32677560	G	T	18	35097596	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999975018449492	0.842
18	32677561	A	C	18	35097597	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0624667458681487	0.122
18	32677561	A	G	18	35097597	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00313716609882584	0.046
18	32677561	A	T	18	35097597	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.003403451213944	0.042
18	32677562	G	A	18	35097598	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.84724510942406E-4	0.004
18	32677562	G	C	18	35097598	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.25315164214029E-4	0.004
18	32677562	G	T	18	35097598	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.24790850387361E-4	0.01
18	32677563	A	C	18	35097599	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.16531782303164E-4	0.066
18	32677563	A	G	18	35097599	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.11739800217622E-4	0.07
18	32677563	A	T	18	35097599	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.09074809232065E-4	0.08
18	32681898	T	A	18	35101934	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00702367529428998	0.22
18	32681898	T	C	18	35101934	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.23876053307997E-4	0.012
18	32681898	T	G	18	35101934	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00625969234879325	0.192
18	32681899	T	A	18	35101935	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.898706426332448	0.546
18	32681899	T	C	18	35101935	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00987029594498183	0.134
18	32681899	T	G	18	35101935	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.576513996390361	0.444
18	32681900	T	A	18	35101936	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0202560476050022	0.218
18	32681900	T	C	18	35101936	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.20890358624779E-4	0.006
18	32681900	T	G	18	35101936	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0469996910168003	0.28
18	32681901	T	A	18	35101937	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.9134722262809E-4	0.034
18	32681901	T	C	18	35101937	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.85578920320881E-5	0.008
18	32681901	T	G	18	35101937	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.9384947317113E-4	0.038
18	32681902	T	A	18	35101938	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00272423545924726	0.05
18	32681902	T	C	18	35101938	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.93756525560797E-5	0.0
18	32681902	T	G	18	35101938	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00288007957024575	0.092
18	32681903	A	C	18	35101939	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.61323391510118E-6	0.0
18	32681903	A	G	18	35101939	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.04860152160254E-5	0.0
18	32681903	A	T	18	35101939	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.61323391510118E-6	0.0
18	32681904	T	A	18	35101940	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.176626855971618	0.316
18	32681904	T	C	18	35101940	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.17077416783272E-4	0.03
18	32681904	T	G	18	35101940	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.998954268855714	0.962
18	32681905	T	A	18	35101941	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999161379930923	0.918
18	32681905	T	C	18	35101941	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00276655095486552	0.118
18	32681905	T	G	18	35101941	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.475638453452721	0.436
18	32681906	G	A	18	35101942	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.08641107572524E-4	0.008
18	32681906	G	C	18	35101942	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.97267152410045E-5	0.0
18	32681906	G	T	18	35101942	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.95152939494555E-5	0.0
18	32681907	C	A	18	35101943	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.346765432255515	0.47
18	32681907	C	G	18	35101943	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999595723214486	0.884
18	32681907	C	T	18	35101943	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00127843717843004	0.04
18	32681908	A	C	18	35101944	y	y	splicing	MAPRE2(NM_001143826:exon5:c.268-2A>C;NM_001143827:exon5:c.361-2A>C;NM_014268:exon4:c.397-2A>C;NM_001256420:exon3:c.238-2A>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.268-2A>C;ENST00000591734:exon5:c.268-2A>C;ENST00000589180:exon5:c.115-2A>C;ENST00000436190:exon5:c.361-2A>C;ENST00000588349:exon5:c.268-2A>C;ENST00000300249:exon4:c.397-2A>C;ENST00000538170:exon3:c.238-2A>C;ENST00000588910:exon4:c.397-2A>C;ENST00000589699:exon4:c.268-2A>C)	.	.	0.999989917668626	0.926
18	32681908	A	G	18	35101944	y	y	splicing	MAPRE2(NM_001143826:exon5:c.268-2A>G;NM_001143827:exon5:c.361-2A>G;NM_014268:exon4:c.397-2A>G;NM_001256420:exon3:c.238-2A>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.268-2A>G;ENST00000591734:exon5:c.268-2A>G;ENST00000589180:exon5:c.115-2A>G;ENST00000436190:exon5:c.361-2A>G;ENST00000588349:exon5:c.268-2A>G;ENST00000300249:exon4:c.397-2A>G;ENST00000538170:exon3:c.238-2A>G;ENST00000588910:exon4:c.397-2A>G;ENST00000589699:exon4:c.268-2A>G)	.	.	0.999989917668626	0.926
18	32681908	A	T	18	35101944	y	y	splicing	MAPRE2(NM_001143826:exon5:c.268-2A>T;NM_001143827:exon5:c.361-2A>T;NM_014268:exon4:c.397-2A>T;NM_001256420:exon3:c.238-2A>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.268-2A>T;ENST00000591734:exon5:c.268-2A>T;ENST00000589180:exon5:c.115-2A>T;ENST00000436190:exon5:c.361-2A>T;ENST00000588349:exon5:c.268-2A>T;ENST00000300249:exon4:c.397-2A>T;ENST00000538170:exon3:c.238-2A>T;ENST00000588910:exon4:c.397-2A>T;ENST00000589699:exon4:c.268-2A>T)	.	.	0.999989917668626	0.926
18	32681909	G	A	18	35101945	y	y	splicing	MAPRE2(NM_001143826:exon5:c.268-1G>A;NM_001143827:exon5:c.361-1G>A;NM_014268:exon4:c.397-1G>A;NM_001256420:exon3:c.238-1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.268-1G>A;ENST00000591734:exon5:c.268-1G>A;ENST00000589180:exon5:c.115-1G>A;ENST00000436190:exon5:c.361-1G>A;ENST00000588349:exon5:c.268-1G>A;ENST00000300249:exon4:c.397-1G>A;ENST00000538170:exon3:c.238-1G>A;ENST00000588910:exon4:c.397-1G>A;ENST00000589699:exon4:c.268-1G>A)	.	.	0.999986675681007	0.938
18	32681909	G	C	18	35101945	y	y	splicing	MAPRE2(NM_001143826:exon5:c.268-1G>C;NM_001143827:exon5:c.361-1G>C;NM_014268:exon4:c.397-1G>C;NM_001256420:exon3:c.238-1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.268-1G>C;ENST00000591734:exon5:c.268-1G>C;ENST00000589180:exon5:c.115-1G>C;ENST00000436190:exon5:c.361-1G>C;ENST00000588349:exon5:c.268-1G>C;ENST00000300249:exon4:c.397-1G>C;ENST00000538170:exon3:c.238-1G>C;ENST00000588910:exon4:c.397-1G>C;ENST00000589699:exon4:c.268-1G>C)	.	.	0.999986675681007	0.938
18	32681909	G	T	18	35101945	y	y	splicing	MAPRE2(NM_001143826:exon5:c.268-1G>T;NM_001143827:exon5:c.361-1G>T;NM_014268:exon4:c.397-1G>T;NM_001256420:exon3:c.238-1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.268-1G>T;ENST00000591734:exon5:c.268-1G>T;ENST00000589180:exon5:c.115-1G>T;ENST00000436190:exon5:c.361-1G>T;ENST00000588349:exon5:c.268-1G>T;ENST00000300249:exon4:c.397-1G>T;ENST00000538170:exon3:c.238-1G>T;ENST00000588910:exon4:c.397-1G>T;ENST00000589699:exon4:c.268-1G>T)	.	.	0.999986675681007	0.938
18	32681910	G	A	18	35101946	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.G268A:p.V90I;MAPRE2:NM_014268:exon4:c.G397A:p.V133I;MAPRE2:NM_001143827:exon5:c.G361A:p.V121I;MAPRE2:NM_001256420:exon3:c.G238A:p.V80I;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.G268A:p.V90I;ENSG00000166974:ENST00000300249:exon4:c.G397A:p.V133I;ENSG00000166974:ENST00000538170:exon3:c.G238A:p.V80I;ENSG00000166974:ENST00000588910:exon4:c.G397A:p.V133I;ENSG00000166974:ENST00000589180:exon5:c.G115A:p.V39I;ENSG00000166974:ENST00000591734:exon5:c.G268A:p.V90I;ENSG00000166974:ENST00000589699:exon4:c.G268A:p.V90I;ENSG00000166974:ENST00000436190:exon5:c.G361A:p.V121I;ENSG00000166974:ENST00000588349:exon5:c.G268A:p.V90I;	0.0316854080555262	0.39
18	32681910	G	C	18	35101946	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.G268C:p.V90L;MAPRE2:NM_014268:exon4:c.G397C:p.V133L;MAPRE2:NM_001143827:exon5:c.G361C:p.V121L;MAPRE2:NM_001256420:exon3:c.G238C:p.V80L;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.G268C:p.V90L;ENSG00000166974:ENST00000300249:exon4:c.G397C:p.V133L;ENSG00000166974:ENST00000538170:exon3:c.G238C:p.V80L;ENSG00000166974:ENST00000588910:exon4:c.G397C:p.V133L;ENSG00000166974:ENST00000589180:exon5:c.G115C:p.V39L;ENSG00000166974:ENST00000591734:exon5:c.G268C:p.V90L;ENSG00000166974:ENST00000589699:exon4:c.G268C:p.V90L;ENSG00000166974:ENST00000436190:exon5:c.G361C:p.V121L;ENSG00000166974:ENST00000588349:exon5:c.G268C:p.V90L;	0.999242557887196	0.892
18	32681910	G	T	18	35101946	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.G268T:p.V90L;MAPRE2:NM_014268:exon4:c.G397T:p.V133L;MAPRE2:NM_001143827:exon5:c.G361T:p.V121L;MAPRE2:NM_001256420:exon3:c.G238T:p.V80L;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.G268T:p.V90L;ENSG00000166974:ENST00000300249:exon4:c.G397T:p.V133L;ENSG00000166974:ENST00000538170:exon3:c.G238T:p.V80L;ENSG00000166974:ENST00000588910:exon4:c.G397T:p.V133L;ENSG00000166974:ENST00000589180:exon5:c.G115T:p.V39L;ENSG00000166974:ENST00000591734:exon5:c.G268T:p.V90L;ENSG00000166974:ENST00000589699:exon4:c.G268T:p.V90L;ENSG00000166974:ENST00000436190:exon5:c.G361T:p.V121L;ENSG00000166974:ENST00000588349:exon5:c.G268T:p.V90L;	0.998974139330737	0.932
18	32681911	T	A	18	35101947	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.T269A:p.V90E;MAPRE2:NM_014268:exon4:c.T398A:p.V133E;MAPRE2:NM_001143827:exon5:c.T362A:p.V121E;MAPRE2:NM_001256420:exon3:c.T239A:p.V80E;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.T269A:p.V90E;ENSG00000166974:ENST00000300249:exon4:c.T398A:p.V133E;ENSG00000166974:ENST00000538170:exon3:c.T239A:p.V80E;ENSG00000166974:ENST00000588910:exon4:c.T398A:p.V133E;ENSG00000166974:ENST00000589180:exon5:c.T116A:p.V39E;ENSG00000166974:ENST00000591734:exon5:c.T269A:p.V90E;ENSG00000166974:ENST00000589699:exon4:c.T269A:p.V90E;ENSG00000166974:ENST00000436190:exon5:c.T362A:p.V121E;ENSG00000166974:ENST00000588349:exon5:c.T269A:p.V90E;	0.0749474652741579	0.38
18	32681911	T	C	18	35101947	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.T269C:p.V90A;MAPRE2:NM_014268:exon4:c.T398C:p.V133A;MAPRE2:NM_001143827:exon5:c.T362C:p.V121A;MAPRE2:NM_001256420:exon3:c.T239C:p.V80A;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.T269C:p.V90A;ENSG00000166974:ENST00000300249:exon4:c.T398C:p.V133A;ENSG00000166974:ENST00000538170:exon3:c.T239C:p.V80A;ENSG00000166974:ENST00000588910:exon4:c.T398C:p.V133A;ENSG00000166974:ENST00000589180:exon5:c.T116C:p.V39A;ENSG00000166974:ENST00000591734:exon5:c.T269C:p.V90A;ENSG00000166974:ENST00000589699:exon4:c.T269C:p.V90A;ENSG00000166974:ENST00000436190:exon5:c.T362C:p.V121A;ENSG00000166974:ENST00000588349:exon5:c.T269C:p.V90A;	0.172320406154801	0.442
18	32681911	T	G	18	35101947	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.T269G:p.V90G;MAPRE2:NM_014268:exon4:c.T398G:p.V133G;MAPRE2:NM_001143827:exon5:c.T362G:p.V121G;MAPRE2:NM_001256420:exon3:c.T239G:p.V80G;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.T269G:p.V90G;ENSG00000166974:ENST00000300249:exon4:c.T398G:p.V133G;ENSG00000166974:ENST00000538170:exon3:c.T239G:p.V80G;ENSG00000166974:ENST00000588910:exon4:c.T398G:p.V133G;ENSG00000166974:ENST00000589180:exon5:c.T116G:p.V39G;ENSG00000166974:ENST00000591734:exon5:c.T269G:p.V90G;ENSG00000166974:ENST00000589699:exon4:c.T269G:p.V90G;ENSG00000166974:ENST00000436190:exon5:c.T362G:p.V121G;ENSG00000166974:ENST00000588349:exon5:c.T269G:p.V90G;	0.137028828952051	0.418
18	32682121	C	A	18	35102157	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.C479A:p.A160E;MAPRE2:NM_014268:exon4:c.C608A:p.A203E;MAPRE2:NM_001143827:exon5:c.C572A:p.A191E;MAPRE2:NM_001256420:exon3:c.C449A:p.A150E;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.C479A:p.A160E;ENSG00000166974:ENST00000300249:exon4:c.C608A:p.A203E;ENSG00000166974:ENST00000538170:exon3:c.C449A:p.A150E;ENSG00000166974:ENST00000588910:exon4:c.C608A:p.A203E;ENSG00000166974:ENST00000589180:exon5:c.C326A:p.A109E;ENSG00000166974:ENST00000591734:exon5:c.C479A:p.A160E;ENSG00000166974:ENST00000589699:exon4:c.C479A:p.A160E;ENSG00000166974:ENST00000436190:exon5:c.C572A:p.A191E;	0.933349924098513	0.724
18	32682121	C	G	18	35102157	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.C479G:p.A160G;MAPRE2:NM_014268:exon4:c.C608G:p.A203G;MAPRE2:NM_001143827:exon5:c.C572G:p.A191G;MAPRE2:NM_001256420:exon3:c.C449G:p.A150G;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.C479G:p.A160G;ENSG00000166974:ENST00000300249:exon4:c.C608G:p.A203G;ENSG00000166974:ENST00000538170:exon3:c.C449G:p.A150G;ENSG00000166974:ENST00000588910:exon4:c.C608G:p.A203G;ENSG00000166974:ENST00000589180:exon5:c.C326G:p.A109G;ENSG00000166974:ENST00000591734:exon5:c.C479G:p.A160G;ENSG00000166974:ENST00000589699:exon4:c.C479G:p.A160G;ENSG00000166974:ENST00000436190:exon5:c.C572G:p.A191G;	0.97647547787373	0.7
18	32682121	C	T	18	35102157	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.C479T:p.A160V;MAPRE2:NM_014268:exon4:c.C608T:p.A203V;MAPRE2:NM_001143827:exon5:c.C572T:p.A191V;MAPRE2:NM_001256420:exon3:c.C449T:p.A150V;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.C479T:p.A160V;ENSG00000166974:ENST00000300249:exon4:c.C608T:p.A203V;ENSG00000166974:ENST00000538170:exon3:c.C449T:p.A150V;ENSG00000166974:ENST00000588910:exon4:c.C608T:p.A203V;ENSG00000166974:ENST00000589180:exon5:c.C326T:p.A109V;ENSG00000166974:ENST00000591734:exon5:c.C479T:p.A160V;ENSG00000166974:ENST00000589699:exon4:c.C479T:p.A160V;ENSG00000166974:ENST00000436190:exon5:c.C572T:p.A191V;	0.999797824198994	0.984
18	32682122	A	C	18	35102158	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon5:c.A480C:p.A160A;MAPRE2:NM_014268:exon4:c.A609C:p.A203A;MAPRE2:NM_001143827:exon5:c.A573C:p.A191A;MAPRE2:NM_001256420:exon3:c.A450C:p.A150A;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.A480C:p.A160A;ENSG00000166974:ENST00000300249:exon4:c.A609C:p.A203A;ENSG00000166974:ENST00000538170:exon3:c.A450C:p.A150A;ENSG00000166974:ENST00000588910:exon4:c.A609C:p.A203A;ENSG00000166974:ENST00000589180:exon5:c.A327C:p.A109A;ENSG00000166974:ENST00000591734:exon5:c.A480C:p.A160A;ENSG00000166974:ENST00000589699:exon4:c.A480C:p.A160A;ENSG00000166974:ENST00000436190:exon5:c.A573C:p.A191A;	0.999709869224217	0.996
18	32682122	A	G	18	35102158	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon5:c.A480G:p.A160A;MAPRE2:NM_014268:exon4:c.A609G:p.A203A;MAPRE2:NM_001143827:exon5:c.A573G:p.A191A;MAPRE2:NM_001256420:exon3:c.A450G:p.A150A;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.A480G:p.A160A;ENSG00000166974:ENST00000300249:exon4:c.A609G:p.A203A;ENSG00000166974:ENST00000538170:exon3:c.A450G:p.A150A;ENSG00000166974:ENST00000588910:exon4:c.A609G:p.A203A;ENSG00000166974:ENST00000589180:exon5:c.A327G:p.A109A;ENSG00000166974:ENST00000591734:exon5:c.A480G:p.A160A;ENSG00000166974:ENST00000589699:exon4:c.A480G:p.A160A;ENSG00000166974:ENST00000436190:exon5:c.A573G:p.A191A;	0.999649573772722	0.998
18	32682122	A	T	18	35102158	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon5:c.A480T:p.A160A;MAPRE2:NM_014268:exon4:c.A609T:p.A203A;MAPRE2:NM_001143827:exon5:c.A573T:p.A191A;MAPRE2:NM_001256420:exon3:c.A450T:p.A150A;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.A480T:p.A160A;ENSG00000166974:ENST00000300249:exon4:c.A609T:p.A203A;ENSG00000166974:ENST00000538170:exon3:c.A450T:p.A150A;ENSG00000166974:ENST00000588910:exon4:c.A609T:p.A203A;ENSG00000166974:ENST00000589180:exon5:c.A327T:p.A109A;ENSG00000166974:ENST00000591734:exon5:c.A480T:p.A160A;ENSG00000166974:ENST00000589699:exon4:c.A480T:p.A160A;ENSG00000166974:ENST00000436190:exon5:c.A573T:p.A191A;	0.999900013770173	0.998
18	32682123	G	A	18	35102159	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.G481A:p.G161S;MAPRE2:NM_014268:exon4:c.G610A:p.G204S;MAPRE2:NM_001143827:exon5:c.G574A:p.G192S;MAPRE2:NM_001256420:exon3:c.G451A:p.G151S;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.G481A:p.G161S;ENSG00000166974:ENST00000300249:exon4:c.G610A:p.G204S;ENSG00000166974:ENST00000538170:exon3:c.G451A:p.G151S;ENSG00000166974:ENST00000588910:exon4:c.G610A:p.G204S;ENSG00000166974:ENST00000589180:exon5:c.G328A:p.G110S;ENSG00000166974:ENST00000591734:exon5:c.G481A:p.G161S;ENSG00000166974:ENST00000589699:exon4:c.G481A:p.G161S;ENSG00000166974:ENST00000436190:exon5:c.G574A:p.G192S;	0.999986219041403	0.974
18	32682123	G	C	18	35102159	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.G481C:p.G161R;MAPRE2:NM_014268:exon4:c.G610C:p.G204R;MAPRE2:NM_001143827:exon5:c.G574C:p.G192R;MAPRE2:NM_001256420:exon3:c.G451C:p.G151R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.G481C:p.G161R;ENSG00000166974:ENST00000300249:exon4:c.G610C:p.G204R;ENSG00000166974:ENST00000538170:exon3:c.G451C:p.G151R;ENSG00000166974:ENST00000588910:exon4:c.G610C:p.G204R;ENSG00000166974:ENST00000589180:exon5:c.G328C:p.G110R;ENSG00000166974:ENST00000591734:exon5:c.G481C:p.G161R;ENSG00000166974:ENST00000589699:exon4:c.G481C:p.G161R;ENSG00000166974:ENST00000436190:exon5:c.G574C:p.G192R;	0.999995846283445	0.982
18	32682123	G	T	18	35102159	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon5:c.G481T:p.G161C;MAPRE2:NM_014268:exon4:c.G610T:p.G204C;MAPRE2:NM_001143827:exon5:c.G574T:p.G192C;MAPRE2:NM_001256420:exon3:c.G451T:p.G151C;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon5:c.G481T:p.G161C;ENSG00000166974:ENST00000300249:exon4:c.G610T:p.G204C;ENSG00000166974:ENST00000538170:exon3:c.G451T:p.G151C;ENSG00000166974:ENST00000588910:exon4:c.G610T:p.G204C;ENSG00000166974:ENST00000589180:exon5:c.G328T:p.G110C;ENSG00000166974:ENST00000591734:exon5:c.G481T:p.G161C;ENSG00000166974:ENST00000589699:exon4:c.G481T:p.G161C;ENSG00000166974:ENST00000436190:exon5:c.G574T:p.G192C;	0.999992581621154	0.996
18	32682124	G	A	18	35102160	y	y	splicing	MAPRE2(NM_001143826:exon5:c.481+1G>A;NM_001143827:exon5:c.574+1G>A;NM_014268:exon4:c.610+1G>A;NM_001256420:exon3:c.451+1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.481+1G>A;ENST00000591734:exon5:c.481+1G>A;ENST00000589180:exon5:c.328+1G>A;ENST00000436190:exon5:c.574+1G>A;ENST00000300249:exon4:c.610+1G>A;ENST00000538170:exon3:c.451+1G>A;ENST00000588910:exon4:c.610+1G>A;ENST00000589699:exon4:c.481+1G>A)	.	.	0.999986675681007	0.94
18	32682124	G	C	18	35102160	y	y	splicing	MAPRE2(NM_001143826:exon5:c.481+1G>C;NM_001143827:exon5:c.574+1G>C;NM_014268:exon4:c.610+1G>C;NM_001256420:exon3:c.451+1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.481+1G>C;ENST00000591734:exon5:c.481+1G>C;ENST00000589180:exon5:c.328+1G>C;ENST00000436190:exon5:c.574+1G>C;ENST00000300249:exon4:c.610+1G>C;ENST00000538170:exon3:c.451+1G>C;ENST00000588910:exon4:c.610+1G>C;ENST00000589699:exon4:c.481+1G>C)	.	.	0.999986675681007	0.94
18	32682124	G	T	18	35102160	y	y	splicing	MAPRE2(NM_001143826:exon5:c.481+1G>T;NM_001143827:exon5:c.574+1G>T;NM_014268:exon4:c.610+1G>T;NM_001256420:exon3:c.451+1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.481+1G>T;ENST00000591734:exon5:c.481+1G>T;ENST00000589180:exon5:c.328+1G>T;ENST00000436190:exon5:c.574+1G>T;ENST00000300249:exon4:c.610+1G>T;ENST00000538170:exon3:c.451+1G>T;ENST00000588910:exon4:c.610+1G>T;ENST00000589699:exon4:c.481+1G>T)	.	.	0.999986675681007	0.94
18	32682125	T	A	18	35102161	y	y	splicing	MAPRE2(NM_001143826:exon5:c.481+2T>A;NM_001143827:exon5:c.574+2T>A;NM_014268:exon4:c.610+2T>A;NM_001256420:exon3:c.451+2T>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.481+2T>A;ENST00000591734:exon5:c.481+2T>A;ENST00000589180:exon5:c.328+2T>A;ENST00000436190:exon5:c.574+2T>A;ENST00000300249:exon4:c.610+2T>A;ENST00000538170:exon3:c.451+2T>A;ENST00000588910:exon4:c.610+2T>A;ENST00000589699:exon4:c.481+2T>A)	.	.	0.999989917668626	0.94
18	32682125	T	C	18	35102161	y	y	splicing	MAPRE2(NM_001143826:exon5:c.481+2T>C;NM_001143827:exon5:c.574+2T>C;NM_014268:exon4:c.610+2T>C;NM_001256420:exon3:c.451+2T>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.481+2T>C;ENST00000591734:exon5:c.481+2T>C;ENST00000589180:exon5:c.328+2T>C;ENST00000436190:exon5:c.574+2T>C;ENST00000300249:exon4:c.610+2T>C;ENST00000538170:exon3:c.451+2T>C;ENST00000588910:exon4:c.610+2T>C;ENST00000589699:exon4:c.481+2T>C)	.	.	0.991794813028895	0.622
18	32682125	T	G	18	35102161	y	y	splicing	MAPRE2(NM_001143826:exon5:c.481+2T>G;NM_001143827:exon5:c.574+2T>G;NM_014268:exon4:c.610+2T>G;NM_001256420:exon3:c.451+2T>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon5:c.481+2T>G;ENST00000591734:exon5:c.481+2T>G;ENST00000589180:exon5:c.328+2T>G;ENST00000436190:exon5:c.574+2T>G;ENST00000300249:exon4:c.610+2T>G;ENST00000538170:exon3:c.451+2T>G;ENST00000588910:exon4:c.610+2T>G;ENST00000589699:exon4:c.481+2T>G)	.	.	0.999989917668626	0.94
18	32682126	A	C	18	35102162	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999951822167949	0.988
18	32682126	A	G	18	35102162	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999813862462795	0.98
18	32682126	A	T	18	35102162	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999935674180122	0.982
18	32682127	T	A	18	35102163	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.54022081301525E-4	0.098
18	32682127	T	C	18	35102163	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.8292476085382E-4	0.08
18	32682127	T	G	18	35102163	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.62606315661915E-4	0.032
18	32682128	T	A	18	35102164	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.48545326246283E-4	0.03
18	32682128	T	C	18	35102164	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.4833359945121E-5	0.02
18	32682128	T	G	18	35102164	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.54818545064466E-4	0.098
18	32682129	G	A	18	35102165	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00162998431144854	0.046
18	32682129	G	C	18	35102165	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00367824425961705	0.114
18	32682129	G	T	18	35102165	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.80888646186311E-4	0.018
18	32682130	T	A	18	35102166	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.19143039998836E-4	0.008
18	32682130	T	C	18	35102166	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.61943129966913E-4	0.008
18	32682130	T	G	18	35102166	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.31126299143063E-4	0.008
18	32682131	C	A	18	35102167	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00114573563474748	0.234
18	32682131	C	G	18	35102167	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.87776092815945E-4	0.082
18	32682131	C	T	18	35102167	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.53376793894433E-4	0.046
18	32706900	G	A	18	35126936	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.78981885606411E-5	0.0
18	32706900	G	C	18	35126936	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.53768745617258E-5	0.0
18	32706900	G	T	18	35126936	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.53441348548233E-5	0.024
18	32706901	A	C	18	35126937	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.68636615045185E-5	0.042
18	32706901	A	G	18	35126937	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.31861131053702E-5	0.004
18	32706901	A	T	18	35126937	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.54901206175974E-5	0.014
18	32706902	T	A	18	35126938	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.470349684998567	0.57
18	32706902	T	C	18	35126938	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.52752949912485E-4	0.05
18	32706902	T	G	18	35126938	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999676157012081	0.92
18	32706903	T	A	18	35126939	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.99990467401174	0.97
18	32706903	T	C	18	35126939	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00213248656906476	0.116
18	32706903	T	G	18	35126939	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.352427917395612	0.592
18	32706904	G	A	18	35126940	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.4251398643453E-4	0.004
18	32706904	G	C	18	35126940	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.65047354028333E-5	0.0
18	32706904	G	T	18	35126940	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.65047354028333E-5	0.0
18	32706905	C	A	18	35126941	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00175482273025984	0.106
18	32706905	C	G	18	35126941	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00236015202055562	0.088
18	32706905	C	T	18	35126941	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.2211472915816E-5	0.0
18	32706906	T	A	18	35126942	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.414242441902111	0.47
18	32706906	T	C	18	35126942	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.8394420544332E-4	0.014
18	32706906	T	G	18	35126942	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.345774176723113	0.542
18	32706907	T	A	18	35126943	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.825377265242455	0.52
18	32706907	T	C	18	35126943	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0263772738085052	0.202
18	32706907	T	G	18	35126943	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.903074125136026	0.534
18	32706908	T	A	18	35126944	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.80167720896168E-5	0.0
18	32706908	T	C	18	35126944	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.87266657525781E-5	0.0
18	32706908	T	G	18	35126944	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.38657333226504E-4	0.0
18	32706909	C	A	18	35126945	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.824900138194525	0.604
18	32706909	C	G	18	35126945	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999862585550825	0.974
18	32706909	C	T	18	35126945	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.6687989605716E-4	0.01
18	32706910	A	C	18	35126946	y	y	splicing	MAPRE2(NM_001143826:exon6:c.482-2A>C;NM_001143827:exon6:c.575-2A>C;NM_014268:exon5:c.611-2A>C;NM_001256420:exon4:c.452-2A>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon6:c.482-2A>C;ENST00000591734:exon6:c.482-2A>C;ENST00000589180:exon6:c.329-2A>C;ENST00000436190:exon6:c.575-2A>C;ENST00000300249:exon5:c.611-2A>C;ENST00000538170:exon4:c.452-2A>C;ENST00000588910:exon5:c.611-2A>C;ENST00000589699:exon5:c.482-2A>C)	.	.	0.999988247793601	0.926
18	32706910	A	G	18	35126946	y	y	splicing	MAPRE2(NM_001143826:exon6:c.482-2A>G;NM_001143827:exon6:c.575-2A>G;NM_014268:exon5:c.611-2A>G;NM_001256420:exon4:c.452-2A>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon6:c.482-2A>G;ENST00000591734:exon6:c.482-2A>G;ENST00000589180:exon6:c.329-2A>G;ENST00000436190:exon6:c.575-2A>G;ENST00000300249:exon5:c.611-2A>G;ENST00000538170:exon4:c.452-2A>G;ENST00000588910:exon5:c.611-2A>G;ENST00000589699:exon5:c.482-2A>G)	.	.	0.999988247793601	0.926
18	32706910	A	T	18	35126946	y	y	splicing	MAPRE2(NM_001143826:exon6:c.482-2A>T;NM_001143827:exon6:c.575-2A>T;NM_014268:exon5:c.611-2A>T;NM_001256420:exon4:c.452-2A>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon6:c.482-2A>T;ENST00000591734:exon6:c.482-2A>T;ENST00000589180:exon6:c.329-2A>T;ENST00000436190:exon6:c.575-2A>T;ENST00000300249:exon5:c.611-2A>T;ENST00000538170:exon4:c.452-2A>T;ENST00000588910:exon5:c.611-2A>T;ENST00000589699:exon5:c.482-2A>T)	.	.	0.999988247793601	0.876
18	32706911	G	A	18	35126947	y	y	splicing	MAPRE2(NM_001143826:exon6:c.482-1G>A;NM_001143827:exon6:c.575-1G>A;NM_014268:exon5:c.611-1G>A;NM_001256420:exon4:c.452-1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon6:c.482-1G>A;ENST00000591734:exon6:c.482-1G>A;ENST00000589180:exon6:c.329-1G>A;ENST00000436190:exon6:c.575-1G>A;ENST00000300249:exon5:c.611-1G>A;ENST00000538170:exon4:c.452-1G>A;ENST00000588910:exon5:c.611-1G>A;ENST00000589699:exon5:c.482-1G>A)	.	.	0.999990361384395	0.936
18	32706911	G	C	18	35126947	y	y	splicing	MAPRE2(NM_001143826:exon6:c.482-1G>C;NM_001143827:exon6:c.575-1G>C;NM_014268:exon5:c.611-1G>C;NM_001256420:exon4:c.452-1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon6:c.482-1G>C;ENST00000591734:exon6:c.482-1G>C;ENST00000589180:exon6:c.329-1G>C;ENST00000436190:exon6:c.575-1G>C;ENST00000300249:exon5:c.611-1G>C;ENST00000538170:exon4:c.452-1G>C;ENST00000588910:exon5:c.611-1G>C;ENST00000589699:exon5:c.482-1G>C)	.	.	0.999990361384395	0.936
18	32706911	G	T	18	35126947	y	y	splicing	MAPRE2(NM_001143826:exon6:c.482-1G>T;NM_001143827:exon6:c.575-1G>T;NM_014268:exon5:c.611-1G>T;NM_001256420:exon4:c.452-1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon6:c.482-1G>T;ENST00000591734:exon6:c.482-1G>T;ENST00000589180:exon6:c.329-1G>T;ENST00000436190:exon6:c.575-1G>T;ENST00000300249:exon5:c.611-1G>T;ENST00000538170:exon4:c.452-1G>T;ENST00000588910:exon5:c.611-1G>T;ENST00000589699:exon5:c.482-1G>T)	.	.	0.999990361384395	0.936
18	32706912	G	A	18	35126948	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.G482A:p.G161D;MAPRE2:NM_014268:exon5:c.G611A:p.G204D;MAPRE2:NM_001143827:exon6:c.G575A:p.G192D;MAPRE2:NM_001256420:exon4:c.G452A:p.G151D;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.G482A:p.G161D;ENSG00000166974:ENST00000300249:exon5:c.G611A:p.G204D;ENSG00000166974:ENST00000538170:exon4:c.G452A:p.G151D;ENSG00000166974:ENST00000588910:exon5:c.G611A:p.G204D;ENSG00000166974:ENST00000589180:exon6:c.G329A:p.G110D;ENSG00000166974:ENST00000591734:exon6:c.G482A:p.G161D;ENSG00000166974:ENST00000589699:exon5:c.G482A:p.G161D;ENSG00000166974:ENST00000436190:exon6:c.G575A:p.G192D;	0.736303069532526	0.54
18	32706912	G	C	18	35126948	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.G482C:p.G161A;MAPRE2:NM_014268:exon5:c.G611C:p.G204A;MAPRE2:NM_001143827:exon6:c.G575C:p.G192A;MAPRE2:NM_001256420:exon4:c.G452C:p.G151A;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.G482C:p.G161A;ENSG00000166974:ENST00000300249:exon5:c.G611C:p.G204A;ENSG00000166974:ENST00000538170:exon4:c.G452C:p.G151A;ENSG00000166974:ENST00000588910:exon5:c.G611C:p.G204A;ENSG00000166974:ENST00000589180:exon6:c.G329C:p.G110A;ENSG00000166974:ENST00000591734:exon6:c.G482C:p.G161A;ENSG00000166974:ENST00000589699:exon5:c.G482C:p.G161A;ENSG00000166974:ENST00000436190:exon6:c.G575C:p.G192A;	0.956474903983356	0.588
18	32706912	G	T	18	35126948	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.G482T:p.G161V;MAPRE2:NM_014268:exon5:c.G611T:p.G204V;MAPRE2:NM_001143827:exon6:c.G575T:p.G192V;MAPRE2:NM_001256420:exon4:c.G452T:p.G151V;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.G482T:p.G161V;ENSG00000166974:ENST00000300249:exon5:c.G611T:p.G204V;ENSG00000166974:ENST00000538170:exon4:c.G452T:p.G151V;ENSG00000166974:ENST00000588910:exon5:c.G611T:p.G204V;ENSG00000166974:ENST00000589180:exon6:c.G329T:p.G110V;ENSG00000166974:ENST00000591734:exon6:c.G482T:p.G161V;ENSG00000166974:ENST00000589699:exon5:c.G482T:p.G161V;ENSG00000166974:ENST00000436190:exon6:c.G575T:p.G192V;	0.995481769924817	0.876
18	32706913	T	A	18	35126949	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon6:c.T483A:p.G161G;MAPRE2:NM_014268:exon5:c.T612A:p.G204G;MAPRE2:NM_001143827:exon6:c.T576A:p.G192G;MAPRE2:NM_001256420:exon4:c.T453A:p.G151G;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.T483A:p.G161G;ENSG00000166974:ENST00000300249:exon5:c.T612A:p.G204G;ENSG00000166974:ENST00000538170:exon4:c.T453A:p.G151G;ENSG00000166974:ENST00000588910:exon5:c.T612A:p.G204G;ENSG00000166974:ENST00000589180:exon6:c.T330A:p.G110G;ENSG00000166974:ENST00000591734:exon6:c.T483A:p.G161G;ENSG00000166974:ENST00000589699:exon5:c.T483A:p.G161G;ENSG00000166974:ENST00000436190:exon6:c.T576A:p.G192G;	0.00126591747174762	0.068
18	32706913	T	C	18	35126949	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon6:c.T483C:p.G161G;MAPRE2:NM_014268:exon5:c.T612C:p.G204G;MAPRE2:NM_001143827:exon6:c.T576C:p.G192G;MAPRE2:NM_001256420:exon4:c.T453C:p.G151G;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.T483C:p.G161G;ENSG00000166974:ENST00000300249:exon5:c.T612C:p.G204G;ENSG00000166974:ENST00000538170:exon4:c.T453C:p.G151G;ENSG00000166974:ENST00000588910:exon5:c.T612C:p.G204G;ENSG00000166974:ENST00000589180:exon6:c.T330C:p.G110G;ENSG00000166974:ENST00000591734:exon6:c.T483C:p.G161G;ENSG00000166974:ENST00000589699:exon5:c.T483C:p.G161G;ENSG00000166974:ENST00000436190:exon6:c.T576C:p.G192G;	0.00266948800252791	0.072
18	32706913	T	G	18	35126949	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon6:c.T483G:p.G161G;MAPRE2:NM_014268:exon5:c.T612G:p.G204G;MAPRE2:NM_001143827:exon6:c.T576G:p.G192G;MAPRE2:NM_001256420:exon4:c.T453G:p.G151G;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.T483G:p.G161G;ENSG00000166974:ENST00000300249:exon5:c.T612G:p.G204G;ENSG00000166974:ENST00000538170:exon4:c.T453G:p.G151G;ENSG00000166974:ENST00000588910:exon5:c.T612G:p.G204G;ENSG00000166974:ENST00000589180:exon6:c.T330G:p.G110G;ENSG00000166974:ENST00000591734:exon6:c.T483G:p.G161G;ENSG00000166974:ENST00000589699:exon5:c.T483G:p.G161G;ENSG00000166974:ENST00000436190:exon6:c.T576G:p.G192G;	7.38977379819765E-4	0.014
18	32707049	C	A	18	35127085	y	n	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.C619A:p.Q207K;MAPRE2:NM_014268:exon5:c.C748A:p.Q250K;MAPRE2:NM_001143827:exon6:c.C712A:p.Q238K;MAPRE2:NM_001256420:exon4:c.C589A:p.Q197K;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.C619A:p.Q207K;ENSG00000166974:ENST00000300249:exon5:c.C748A:p.Q250K;ENSG00000166974:ENST00000538170:exon4:c.C589A:p.Q197K;ENSG00000166974:ENST00000588910:exon5:c.C748A:p.Q250K;ENSG00000166974:ENST00000589699:exon5:c.C619A:p.Q207K;ENSG00000166974:ENST00000436190:exon6:c.C712A:p.Q238K;	0.942936275682635	0.786
18	32707049	C	G	18	35127085	y	n	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.C619G:p.Q207E;MAPRE2:NM_014268:exon5:c.C748G:p.Q250E;MAPRE2:NM_001143827:exon6:c.C712G:p.Q238E;MAPRE2:NM_001256420:exon4:c.C589G:p.Q197E;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.C619G:p.Q207E;ENSG00000166974:ENST00000300249:exon5:c.C748G:p.Q250E;ENSG00000166974:ENST00000538170:exon4:c.C589G:p.Q197E;ENSG00000166974:ENST00000588910:exon5:c.C748G:p.Q250E;ENSG00000166974:ENST00000589699:exon5:c.C619G:p.Q207E;ENSG00000166974:ENST00000436190:exon6:c.C712G:p.Q238E;	0.923519217320751	0.634
18	32707049	C	T	18	35127085	y	n	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_001143826:exon6:c.C619T:p.Q207X;MAPRE2:NM_014268:exon5:c.C748T:p.Q250X;MAPRE2:NM_001143827:exon6:c.C712T:p.Q238X;MAPRE2:NM_001256420:exon4:c.C589T:p.Q197X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000413393:exon6:c.C619T:p.Q207X;ENSG00000166974:ENST00000300249:exon5:c.C748T:p.Q250X;ENSG00000166974:ENST00000538170:exon4:c.C589T:p.Q197X;ENSG00000166974:ENST00000588910:exon5:c.C748T:p.Q250X;ENSG00000166974:ENST00000589699:exon5:c.C619T:p.Q207X;ENSG00000166974:ENST00000436190:exon6:c.C712T:p.Q238X;	0.999795181404769	0.956
18	32707050	A	C	18	35127086	y	n	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.A620C:p.Q207P;MAPRE2:NM_014268:exon5:c.A749C:p.Q250P;MAPRE2:NM_001143827:exon6:c.A713C:p.Q238P;MAPRE2:NM_001256420:exon4:c.A590C:p.Q197P;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.A620C:p.Q207P;ENSG00000166974:ENST00000300249:exon5:c.A749C:p.Q250P;ENSG00000166974:ENST00000538170:exon4:c.A590C:p.Q197P;ENSG00000166974:ENST00000588910:exon5:c.A749C:p.Q250P;ENSG00000166974:ENST00000589699:exon5:c.A620C:p.Q207P;ENSG00000166974:ENST00000436190:exon6:c.A713C:p.Q238P;	0.999782964127863	0.994
18	32707050	A	G	18	35127086	y	n	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.A620G:p.Q207R;MAPRE2:NM_014268:exon5:c.A749G:p.Q250R;MAPRE2:NM_001143827:exon6:c.A713G:p.Q238R;MAPRE2:NM_001256420:exon4:c.A590G:p.Q197R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.A620G:p.Q207R;ENSG00000166974:ENST00000300249:exon5:c.A749G:p.Q250R;ENSG00000166974:ENST00000538170:exon4:c.A590G:p.Q197R;ENSG00000166974:ENST00000588910:exon5:c.A749G:p.Q250R;ENSG00000166974:ENST00000589699:exon5:c.A620G:p.Q207R;ENSG00000166974:ENST00000436190:exon6:c.A713G:p.Q238R;	0.999960230914646	0.97
18	32707050	A	T	18	35127086	y	n	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.A620T:p.Q207L;MAPRE2:NM_014268:exon5:c.A749T:p.Q250L;MAPRE2:NM_001143827:exon6:c.A713T:p.Q238L;MAPRE2:NM_001256420:exon4:c.A590T:p.Q197L;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.A620T:p.Q207L;ENSG00000166974:ENST00000300249:exon5:c.A749T:p.Q250L;ENSG00000166974:ENST00000538170:exon4:c.A590T:p.Q197L;ENSG00000166974:ENST00000588910:exon5:c.A749T:p.Q250L;ENSG00000166974:ENST00000589699:exon5:c.A620T:p.Q207L;ENSG00000166974:ENST00000436190:exon6:c.A713T:p.Q238L;	0.999835444167217	0.994
18	32707051	G	A	18	35127087	y	n	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon6:c.G621A:p.Q207Q;MAPRE2:NM_014268:exon5:c.G750A:p.Q250Q;MAPRE2:NM_001143827:exon6:c.G714A:p.Q238Q;MAPRE2:NM_001256420:exon4:c.G591A:p.Q197Q;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.G621A:p.Q207Q;ENSG00000166974:ENST00000300249:exon5:c.G750A:p.Q250Q;ENSG00000166974:ENST00000538170:exon4:c.G591A:p.Q197Q;ENSG00000166974:ENST00000588910:exon5:c.G750A:p.Q250Q;ENSG00000166974:ENST00000589699:exon5:c.G621A:p.Q207Q;ENSG00000166974:ENST00000436190:exon6:c.G714A:p.Q238Q;	0.999977450243163	0.992
18	32707051	G	C	18	35127087	y	n	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.G621C:p.Q207H;MAPRE2:NM_014268:exon5:c.G750C:p.Q250H;MAPRE2:NM_001143827:exon6:c.G714C:p.Q238H;MAPRE2:NM_001256420:exon4:c.G591C:p.Q197H;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.G621C:p.Q207H;ENSG00000166974:ENST00000300249:exon5:c.G750C:p.Q250H;ENSG00000166974:ENST00000538170:exon4:c.G591C:p.Q197H;ENSG00000166974:ENST00000588910:exon5:c.G750C:p.Q250H;ENSG00000166974:ENST00000589699:exon5:c.G621C:p.Q207H;ENSG00000166974:ENST00000436190:exon6:c.G714C:p.Q238H;	0.999997467131986	1.0
18	32707051	G	T	18	35127087	y	n	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon6:c.G621T:p.Q207H;MAPRE2:NM_014268:exon5:c.G750T:p.Q250H;MAPRE2:NM_001143827:exon6:c.G714T:p.Q238H;MAPRE2:NM_001256420:exon4:c.G591T:p.Q197H;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon6:c.G621T:p.Q207H;ENSG00000166974:ENST00000300249:exon5:c.G750T:p.Q250H;ENSG00000166974:ENST00000538170:exon4:c.G591T:p.Q197H;ENSG00000166974:ENST00000588910:exon5:c.G750T:p.Q250H;ENSG00000166974:ENST00000589699:exon5:c.G621T:p.Q207H;ENSG00000166974:ENST00000436190:exon6:c.G714T:p.Q238H;	0.999993018555097	1.0
18	32707052	G	A	18	35127088	y	n	splicing	MAPRE2(NM_001143826:exon6:c.621+1G>A;NM_001143827:exon6:c.714+1G>A;NM_014268:exon5:c.750+1G>A;NM_001256420:exon4:c.591+1G>A)	.	.	exonic;splicing	ENSG00000166974;ENSG00000166974(ENST00000413393:exon6:c.621+1G>A;ENST00000436190:exon6:c.714+1G>A;ENST00000300249:exon5:c.750+1G>A;ENST00000538170:exon4:c.591+1G>A;ENST00000589699:exon5:c.621+1G>A)	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.G751A:p.V251I;	0.999990361384395	0.938
18	32707052	G	C	18	35127088	y	n	splicing	MAPRE2(NM_001143826:exon6:c.621+1G>C;NM_001143827:exon6:c.714+1G>C;NM_014268:exon5:c.750+1G>C;NM_001256420:exon4:c.591+1G>C)	.	.	exonic;splicing	ENSG00000166974;ENSG00000166974(ENST00000413393:exon6:c.621+1G>C;ENST00000436190:exon6:c.714+1G>C;ENST00000300249:exon5:c.750+1G>C;ENST00000538170:exon4:c.591+1G>C;ENST00000589699:exon5:c.621+1G>C)	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.G751C:p.V251L;	0.999990361384395	0.938
18	32707052	G	T	18	35127088	y	n	splicing	MAPRE2(NM_001143826:exon6:c.621+1G>T;NM_001143827:exon6:c.714+1G>T;NM_014268:exon5:c.750+1G>T;NM_001256420:exon4:c.591+1G>T)	.	.	exonic;splicing	ENSG00000166974;ENSG00000166974(ENST00000413393:exon6:c.621+1G>T;ENST00000436190:exon6:c.714+1G>T;ENST00000300249:exon5:c.750+1G>T;ENST00000538170:exon4:c.591+1G>T;ENST00000589699:exon5:c.621+1G>T)	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.G751T:p.V251L;	0.999990361384395	0.938
18	32707053	T	A	18	35127089	y	n	splicing	MAPRE2(NM_001143826:exon6:c.621+2T>A;NM_001143827:exon6:c.714+2T>A;NM_014268:exon5:c.750+2T>A;NM_001256420:exon4:c.591+2T>A)	.	.	exonic;splicing	ENSG00000166974;ENSG00000166974(ENST00000413393:exon6:c.621+2T>A;ENST00000436190:exon6:c.714+2T>A;ENST00000300249:exon5:c.750+2T>A;ENST00000538170:exon4:c.591+2T>A;ENST00000589699:exon5:c.621+2T>A)	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.T752A:p.V251E;	0.999988247793601	0.93
18	32707053	T	C	18	35127089	y	n	splicing	MAPRE2(NM_001143826:exon6:c.621+2T>C;NM_001143827:exon6:c.714+2T>C;NM_014268:exon5:c.750+2T>C;NM_001256420:exon4:c.591+2T>C)	.	.	exonic;splicing	ENSG00000166974;ENSG00000166974(ENST00000413393:exon6:c.621+2T>C;ENST00000436190:exon6:c.714+2T>C;ENST00000300249:exon5:c.750+2T>C;ENST00000538170:exon4:c.591+2T>C;ENST00000589699:exon5:c.621+2T>C)	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.T752C:p.V251A;	0.996388929962285	0.688
18	32707053	T	G	18	35127089	y	n	splicing	MAPRE2(NM_001143826:exon6:c.621+2T>G;NM_001143827:exon6:c.714+2T>G;NM_014268:exon5:c.750+2T>G;NM_001256420:exon4:c.591+2T>G)	.	.	exonic;splicing	ENSG00000166974;ENSG00000166974(ENST00000413393:exon6:c.621+2T>G;ENST00000436190:exon6:c.714+2T>G;ENST00000300249:exon5:c.750+2T>G;ENST00000538170:exon4:c.591+2T>G;ENST00000589699:exon5:c.621+2T>G)	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.T752G:p.V251G;	0.999988247793601	0.93
18	32707054	A	C	18	35127090	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A753C:p.V251V;	0.99992977146589	0.938
18	32707054	A	G	18	35127090	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A753G:p.V251V;	0.999825422367791	0.886
18	32707054	A	T	18	35127090	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A753T:p.V251V;	0.99990011844183	0.948
18	32707055	A	C	18	35127091	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A754C:p.M252L;	0.0631066687094432	0.414
18	32707055	A	G	18	35127091	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A754G:p.M252V;	0.783779429834319	0.54
18	32707055	A	T	18	35127091	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A754T:p.M252L;	0.25867200521429	0.396
18	32707056	T	A	18	35127092	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.T755A:p.M252K;	3.36477868278299E-5	0.004
18	32707056	T	C	18	35127092	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.T755C:p.M252T;	1.87828311662335E-5	0.002
18	32707056	T	G	18	35127092	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.T755G:p.M252R;	2.82244069018299E-5	0.002
18	32707057	G	A	18	35127093	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.G756A:p.M252I;	9.85988094207005E-5	0.0
18	32707057	G	C	18	35127093	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.G756C:p.M252I;	3.97378001674724E-4	0.028
18	32707057	G	T	18	35127093	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.G756T:p.M252I;	1.85361027105293E-5	0.0
18	32707058	C	A	18	35127094	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.C757A:p.H253N;	4.26954946448503E-5	0.0
18	32707058	C	G	18	35127094	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.C757G:p.H253D;	6.34097550599923E-5	0.006
18	32707058	C	T	18	35127094	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.C757T:p.H253Y;	1.62090682422895E-4	0.076
18	32707059	A	C	18	35127095	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A758C:p.H253P;	4.71350558211553E-5	0.002
18	32707059	A	G	18	35127095	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A758G:p.H253R;	2.24448830120472E-5	0.002
18	32707059	A	T	18	35127095	y	n	intronic	MAPRE2	.	.	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000588910:exon5:c.A758T:p.H253L;	4.79314207206413E-5	0.0
18	32711984	A	C	18	35132020	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.24972722544093E-5	0.0
18	32711984	A	G	18	35132020	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.63799985205573E-5	0.022
18	32711984	A	T	18	35132020	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.81996256546166E-5	0.006
18	32711985	C	A	18	35132021	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.42730436842329E-4	0.03
18	32711985	C	G	18	35132021	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.998818667112513	0.958
18	32711985	C	T	18	35132021	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.16082603961528E-5	0.0
18	32711986	T	A	18	35132022	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.17150264256023E-4	0.046
18	32711986	T	C	18	35132022	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.4956972670629E-5	0.0
18	32711986	T	G	18	35132022	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.95311390963259E-4	0.084
18	32711987	C	A	18	35132023	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00124187445684548	0.076
18	32711987	C	G	18	35132023	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.37108754637715E-4	0.02
18	32711987	C	T	18	35132023	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.47603594770338E-5	0.0
18	32711988	C	A	18	35132024	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.36833948307139E-4	0.03
18	32711988	C	G	18	35132024	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.76736709253165E-5	0.03
18	32711988	C	T	18	35132024	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.99213373975045E-5	0.004
18	32711989	C	A	18	35132025	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.17555056783501E-4	0.022
18	32711989	C	G	18	35132025	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.42453929881236E-5	0.004
18	32711989	C	T	18	35132025	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.59011681283607E-5	0.0
18	32711990	T	A	18	35132026	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0019115445704083	0.13
18	32711990	T	C	18	35132026	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.99742344202675E-5	0.0
18	32711990	T	G	18	35132026	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.70561040185039E-4	0.108
18	32711991	T	A	18	35132027	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999181002839531	0.886
18	32711991	T	C	18	35132027	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.6940400867838E-4	0.032
18	32711991	T	G	18	35132027	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0120073724380539	0.302
18	32711992	G	A	18	35132028	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.21391205607995E-4	0.002
18	32711992	G	C	18	35132028	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	6.38255006031639E-5	0.0
18	32711992	G	T	18	35132028	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.63265715660849E-5	0.022
18	32711993	C	A	18	35132029	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.799531391120451	0.694
18	32711993	C	G	18	35132029	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999569738512212	0.954
18	32711993	C	T	18	35132029	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0166955271392025	0.076
18	32711994	A	C	18	35132030	y	y	splicing	MAPRE2(NM_001143826:exon7:c.622-2A>C;NM_001143827:exon7:c.715-2A>C;NM_014268:exon6:c.751-2A>C;NM_001256420:exon5:c.592-2A>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.622-2A>C;ENST00000436190:exon7:c.715-2A>C;ENST00000300249:exon6:c.751-2A>C;ENST00000538170:exon5:c.592-2A>C;ENST00000589699:exon6:c.622-2A>C)	.	.	0.999988247793601	0.932
18	32711994	A	G	18	35132030	y	y	splicing	MAPRE2(NM_001143826:exon7:c.622-2A>G;NM_001143827:exon7:c.715-2A>G;NM_014268:exon6:c.751-2A>G;NM_001256420:exon5:c.592-2A>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.622-2A>G;ENST00000436190:exon7:c.715-2A>G;ENST00000300249:exon6:c.751-2A>G;ENST00000538170:exon5:c.592-2A>G;ENST00000589699:exon6:c.622-2A>G)	.	.	0.999988247793601	0.932
18	32711994	A	T	18	35132030	y	y	splicing	MAPRE2(NM_001143826:exon7:c.622-2A>T;NM_001143827:exon7:c.715-2A>T;NM_014268:exon6:c.751-2A>T;NM_001256420:exon5:c.592-2A>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.622-2A>T;ENST00000436190:exon7:c.715-2A>T;ENST00000300249:exon6:c.751-2A>T;ENST00000538170:exon5:c.592-2A>T;ENST00000589699:exon6:c.622-2A>T)	.	.	0.999988247793601	0.932
18	32711995	G	A	18	35132031	y	y	splicing	MAPRE2(NM_001143826:exon7:c.622-1G>A;NM_001143827:exon7:c.715-1G>A;NM_014268:exon6:c.751-1G>A;NM_001256420:exon5:c.592-1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.622-1G>A;ENST00000436190:exon7:c.715-1G>A;ENST00000300249:exon6:c.751-1G>A;ENST00000538170:exon5:c.592-1G>A;ENST00000589699:exon6:c.622-1G>A)	.	.	0.999990361384395	0.938
18	32711995	G	C	18	35132031	y	y	splicing	MAPRE2(NM_001143826:exon7:c.622-1G>C;NM_001143827:exon7:c.715-1G>C;NM_014268:exon6:c.751-1G>C;NM_001256420:exon5:c.592-1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.622-1G>C;ENST00000436190:exon7:c.715-1G>C;ENST00000300249:exon6:c.751-1G>C;ENST00000538170:exon5:c.592-1G>C;ENST00000589699:exon6:c.622-1G>C)	.	.	0.999990361384395	0.938
18	32711995	G	T	18	35132031	y	y	splicing	MAPRE2(NM_001143826:exon7:c.622-1G>T;NM_001143827:exon7:c.715-1G>T;NM_014268:exon6:c.751-1G>T;NM_001256420:exon5:c.592-1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.622-1G>T;ENST00000436190:exon7:c.715-1G>T;ENST00000300249:exon6:c.751-1G>T;ENST00000538170:exon5:c.592-1G>T;ENST00000589699:exon6:c.622-1G>T)	.	.	0.999990361384395	0.938
18	32711996	G	A	18	35132032	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.G622A:p.V208I;MAPRE2:NM_014268:exon6:c.G751A:p.V251I;MAPRE2:NM_001143827:exon7:c.G715A:p.V239I;MAPRE2:NM_001256420:exon5:c.G592A:p.V198I;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.G622A:p.V208I;ENSG00000166974:ENST00000300249:exon6:c.G751A:p.V251I;ENSG00000166974:ENST00000538170:exon5:c.G592A:p.V198I;ENSG00000166974:ENST00000589699:exon6:c.G622A:p.V208I;ENSG00000166974:ENST00000436190:exon7:c.G715A:p.V239I;	0.474087552786772	0.514
18	32711996	G	C	18	35132032	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.G622C:p.V208L;MAPRE2:NM_014268:exon6:c.G751C:p.V251L;MAPRE2:NM_001143827:exon7:c.G715C:p.V239L;MAPRE2:NM_001256420:exon5:c.G592C:p.V198L;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.G622C:p.V208L;ENSG00000166974:ENST00000300249:exon6:c.G751C:p.V251L;ENSG00000166974:ENST00000538170:exon5:c.G592C:p.V198L;ENSG00000166974:ENST00000589699:exon6:c.G622C:p.V208L;ENSG00000166974:ENST00000436190:exon7:c.G715C:p.V239L;	0.588869310987333	0.496
18	32711996	G	T	18	35132032	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.G622T:p.V208L;MAPRE2:NM_014268:exon6:c.G751T:p.V251L;MAPRE2:NM_001143827:exon7:c.G715T:p.V239L;MAPRE2:NM_001256420:exon5:c.G592T:p.V198L;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.G622T:p.V208L;ENSG00000166974:ENST00000300249:exon6:c.G751T:p.V251L;ENSG00000166974:ENST00000538170:exon5:c.G592T:p.V198L;ENSG00000166974:ENST00000589699:exon6:c.G622T:p.V208L;ENSG00000166974:ENST00000436190:exon7:c.G715T:p.V239L;	0.922054148660998	0.456
18	32711997	T	A	18	35132033	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.T623A:p.V208E;MAPRE2:NM_014268:exon6:c.T752A:p.V251E;MAPRE2:NM_001143827:exon7:c.T716A:p.V239E;MAPRE2:NM_001256420:exon5:c.T593A:p.V198E;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.T623A:p.V208E;ENSG00000166974:ENST00000300249:exon6:c.T752A:p.V251E;ENSG00000166974:ENST00000538170:exon5:c.T593A:p.V198E;ENSG00000166974:ENST00000589699:exon6:c.T623A:p.V208E;ENSG00000166974:ENST00000436190:exon7:c.T716A:p.V239E;	0.696467322836408	0.596
18	32711997	T	C	18	35132033	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.T623C:p.V208A;MAPRE2:NM_014268:exon6:c.T752C:p.V251A;MAPRE2:NM_001143827:exon7:c.T716C:p.V239A;MAPRE2:NM_001256420:exon5:c.T593C:p.V198A;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.T623C:p.V208A;ENSG00000166974:ENST00000300249:exon6:c.T752C:p.V251A;ENSG00000166974:ENST00000538170:exon5:c.T593C:p.V198A;ENSG00000166974:ENST00000589699:exon6:c.T623C:p.V208A;ENSG00000166974:ENST00000436190:exon7:c.T716C:p.V239A;	0.427226105208919	0.474
18	32711997	T	G	18	35132033	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.T623G:p.V208G;MAPRE2:NM_014268:exon6:c.T752G:p.V251G;MAPRE2:NM_001143827:exon7:c.T716G:p.V239G;MAPRE2:NM_001256420:exon5:c.T593G:p.V198G;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.T623G:p.V208G;ENSG00000166974:ENST00000300249:exon6:c.T752G:p.V251G;ENSG00000166974:ENST00000538170:exon5:c.T593G:p.V198G;ENSG00000166974:ENST00000589699:exon6:c.T623G:p.V208G;ENSG00000166974:ENST00000436190:exon7:c.T716G:p.V239G;	0.453568649449214	0.614
18	32712152	C	A	18	35132188	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.C778A:p.H260N;MAPRE2:NM_014268:exon6:c.C907A:p.H303N;MAPRE2:NM_001143827:exon7:c.C871A:p.H291N;MAPRE2:NM_001256420:exon5:c.C748A:p.H250N;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.C778A:p.H260N;ENSG00000166974:ENST00000300249:exon6:c.C907A:p.H303N;ENSG00000166974:ENST00000538170:exon5:c.C748A:p.H250N;ENSG00000166974:ENST00000589699:exon6:c.C778A:p.H260N;ENSG00000166974:ENST00000436190:exon7:c.C871A:p.H291N;	0.945694663324673	0.732
18	32712152	C	G	18	35132188	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.C778G:p.H260D;MAPRE2:NM_014268:exon6:c.C907G:p.H303D;MAPRE2:NM_001143827:exon7:c.C871G:p.H291D;MAPRE2:NM_001256420:exon5:c.C748G:p.H250D;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.C778G:p.H260D;ENSG00000166974:ENST00000300249:exon6:c.C907G:p.H303D;ENSG00000166974:ENST00000538170:exon5:c.C748G:p.H250D;ENSG00000166974:ENST00000589699:exon6:c.C778G:p.H260D;ENSG00000166974:ENST00000436190:exon7:c.C871G:p.H291D;	0.941102689674544	0.616
18	32712152	C	T	18	35132188	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.C778T:p.H260Y;MAPRE2:NM_014268:exon6:c.C907T:p.H303Y;MAPRE2:NM_001143827:exon7:c.C871T:p.H291Y;MAPRE2:NM_001256420:exon5:c.C748T:p.H250Y;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.C778T:p.H260Y;ENSG00000166974:ENST00000300249:exon6:c.C907T:p.H303Y;ENSG00000166974:ENST00000538170:exon5:c.C748T:p.H250Y;ENSG00000166974:ENST00000589699:exon6:c.C778T:p.H260Y;ENSG00000166974:ENST00000436190:exon7:c.C871T:p.H291Y;	0.998935407510882	0.722
18	32712153	A	C	18	35132189	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.A779C:p.H260P;MAPRE2:NM_014268:exon6:c.A908C:p.H303P;MAPRE2:NM_001143827:exon7:c.A872C:p.H291P;MAPRE2:NM_001256420:exon5:c.A749C:p.H250P;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.A779C:p.H260P;ENSG00000166974:ENST00000300249:exon6:c.A908C:p.H303P;ENSG00000166974:ENST00000538170:exon5:c.A749C:p.H250P;ENSG00000166974:ENST00000589699:exon6:c.A779C:p.H260P;ENSG00000166974:ENST00000436190:exon7:c.A872C:p.H291P;	0.295953179077716	0.584
18	32712153	A	G	18	35132189	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.A779G:p.H260R;MAPRE2:NM_014268:exon6:c.A908G:p.H303R;MAPRE2:NM_001143827:exon7:c.A872G:p.H291R;MAPRE2:NM_001256420:exon5:c.A749G:p.H250R;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.A779G:p.H260R;ENSG00000166974:ENST00000300249:exon6:c.A908G:p.H303R;ENSG00000166974:ENST00000538170:exon5:c.A749G:p.H250R;ENSG00000166974:ENST00000589699:exon6:c.A779G:p.H260R;ENSG00000166974:ENST00000436190:exon7:c.A872G:p.H291R;	0.291167244776251	0.536
18	32712153	A	T	18	35132189	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.A779T:p.H260L;MAPRE2:NM_014268:exon6:c.A908T:p.H303L;MAPRE2:NM_001143827:exon7:c.A872T:p.H291L;MAPRE2:NM_001256420:exon5:c.A749T:p.H250L;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.A779T:p.H260L;ENSG00000166974:ENST00000300249:exon6:c.A908T:p.H303L;ENSG00000166974:ENST00000538170:exon5:c.A749T:p.H250L;ENSG00000166974:ENST00000589699:exon6:c.A779T:p.H260L;ENSG00000166974:ENST00000436190:exon7:c.A872T:p.H291L;	0.568080482847136	0.574
18	32712154	C	A	18	35132190	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.C780A:p.H260Q;MAPRE2:NM_014268:exon6:c.C909A:p.H303Q;MAPRE2:NM_001143827:exon7:c.C873A:p.H291Q;MAPRE2:NM_001256420:exon5:c.C750A:p.H250Q;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.C780A:p.H260Q;ENSG00000166974:ENST00000300249:exon6:c.C909A:p.H303Q;ENSG00000166974:ENST00000538170:exon5:c.C750A:p.H250Q;ENSG00000166974:ENST00000589699:exon6:c.C780A:p.H260Q;ENSG00000166974:ENST00000436190:exon7:c.C873A:p.H291Q;	1.05521404375232E-4	0.006
18	32712154	C	G	18	35132190	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon7:c.C780G:p.H260Q;MAPRE2:NM_014268:exon6:c.C909G:p.H303Q;MAPRE2:NM_001143827:exon7:c.C873G:p.H291Q;MAPRE2:NM_001256420:exon5:c.C750G:p.H250Q;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.C780G:p.H260Q;ENSG00000166974:ENST00000300249:exon6:c.C909G:p.H303Q;ENSG00000166974:ENST00000538170:exon5:c.C750G:p.H250Q;ENSG00000166974:ENST00000589699:exon6:c.C780G:p.H260Q;ENSG00000166974:ENST00000436190:exon7:c.C873G:p.H291Q;	3.55788523116209E-5	0.206
18	32712154	C	T	18	35132190	y	y	exonic	MAPRE2	synonymous SNV	MAPRE2:NM_001143826:exon7:c.C780T:p.H260H;MAPRE2:NM_014268:exon6:c.C909T:p.H303H;MAPRE2:NM_001143827:exon7:c.C873T:p.H291H;MAPRE2:NM_001256420:exon5:c.C750T:p.H250H;	exonic	ENSG00000166974	synonymous SNV	ENSG00000166974:ENST00000413393:exon7:c.C780T:p.H260H;ENSG00000166974:ENST00000300249:exon6:c.C909T:p.H303H;ENSG00000166974:ENST00000538170:exon5:c.C750T:p.H250H;ENSG00000166974:ENST00000589699:exon6:c.C780T:p.H260H;ENSG00000166974:ENST00000436190:exon7:c.C873T:p.H291H;	3.44786460324562E-4	0.05
18	32712155	G	A	18	35132191	y	y	splicing	MAPRE2(NM_001143826:exon7:c.780+1G>A;NM_001143827:exon7:c.873+1G>A;NM_014268:exon6:c.909+1G>A;NM_001256420:exon5:c.750+1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.780+1G>A;ENST00000436190:exon7:c.873+1G>A;ENST00000300249:exon6:c.909+1G>A;ENST00000538170:exon5:c.750+1G>A;ENST00000589699:exon6:c.780+1G>A)	.	.	0.999990361384395	0.936
18	32712155	G	C	18	35132191	y	y	splicing	MAPRE2(NM_001143826:exon7:c.780+1G>C;NM_001143827:exon7:c.873+1G>C;NM_014268:exon6:c.909+1G>C;NM_001256420:exon5:c.750+1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.780+1G>C;ENST00000436190:exon7:c.873+1G>C;ENST00000300249:exon6:c.909+1G>C;ENST00000538170:exon5:c.750+1G>C;ENST00000589699:exon6:c.780+1G>C)	.	.	0.999990361384395	0.936
18	32712155	G	T	18	35132191	y	y	splicing	MAPRE2(NM_001143826:exon7:c.780+1G>T;NM_001143827:exon7:c.873+1G>T;NM_014268:exon6:c.909+1G>T;NM_001256420:exon5:c.750+1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.780+1G>T;ENST00000436190:exon7:c.873+1G>T;ENST00000300249:exon6:c.909+1G>T;ENST00000538170:exon5:c.750+1G>T;ENST00000589699:exon6:c.780+1G>T)	.	.	0.999990361384395	0.936
18	32712156	T	A	18	35132192	y	y	splicing	MAPRE2(NM_001143826:exon7:c.780+2T>A;NM_001143827:exon7:c.873+2T>A;NM_014268:exon6:c.909+2T>A;NM_001256420:exon5:c.750+2T>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.780+2T>A;ENST00000436190:exon7:c.873+2T>A;ENST00000300249:exon6:c.909+2T>A;ENST00000538170:exon5:c.750+2T>A;ENST00000589699:exon6:c.780+2T>A)	.	.	0.999988247793601	0.93
18	32712156	T	C	18	35132192	y	y	splicing	MAPRE2(NM_001143826:exon7:c.780+2T>C;NM_001143827:exon7:c.873+2T>C;NM_014268:exon6:c.909+2T>C;NM_001256420:exon5:c.750+2T>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.780+2T>C;ENST00000436190:exon7:c.873+2T>C;ENST00000300249:exon6:c.909+2T>C;ENST00000538170:exon5:c.750+2T>C;ENST00000589699:exon6:c.780+2T>C)	.	.	0.99416530160294	0.67
18	32712156	T	G	18	35132192	y	y	splicing	MAPRE2(NM_001143826:exon7:c.780+2T>G;NM_001143827:exon7:c.873+2T>G;NM_014268:exon6:c.909+2T>G;NM_001256420:exon5:c.750+2T>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon7:c.780+2T>G;ENST00000436190:exon7:c.873+2T>G;ENST00000300249:exon6:c.909+2T>G;ENST00000538170:exon5:c.750+2T>G;ENST00000589699:exon6:c.780+2T>G)	.	.	0.999988247793601	0.928
18	32712157	A	C	18	35132193	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.107290615220571	0.266
18	32712157	A	G	18	35132193	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.39349019309207E-4	0.044
18	32712157	A	T	18	35132193	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.730823014413616	0.31
18	32712158	A	C	18	35132194	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.618394079598925	0.318
18	32712158	A	G	18	35132194	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.801802174069298	0.604
18	32712158	A	T	18	35132194	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.662633479417806	0.422
18	32712159	G	A	18	35132195	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.99984627861612	0.92
18	32712159	G	C	18	35132195	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999827655802219	0.936
18	32712159	G	T	18	35132195	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.995461848440111	0.914
18	32712160	T	A	18	35132196	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.69763992979744	0.474
18	32712160	T	C	18	35132196	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.82797211145442	0.558
18	32712160	T	G	18	35132196	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.226780568501689	0.442
18	32712161	G	A	18	35132197	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.25510867150845E-4	0.012
18	32712161	G	C	18	35132197	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.24384742510424E-5	0.01
18	32712161	G	T	18	35132197	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.36620926512012E-4	0.02
18	32712162	T	A	18	35132198	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.24642133493272E-4	0.0
18	32712162	T	C	18	35132198	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.7460863297066E-4	0.008
18	32712162	T	G	18	35132198	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.36920715347956E-4	0.002
18	32720247	C	A	18	35140283	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.10678217564648E-4	0.026
18	32720247	C	G	18	35140283	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.87103352441057E-4	0.032
18	32720247	C	T	18	35140283	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.23279447236286E-5	0.0
18	32720248	C	A	18	35140284	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	4.02359396449141E-4	0.072
18	32720248	C	G	18	35140284	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.25423222841473E-4	0.182
18	32720248	C	T	18	35140284	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.83808458307489E-5	0.004
18	32720249	C	A	18	35140285	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	1.3077135977379E-4	0.014
18	32720249	C	G	18	35140285	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	7.46715440911973E-5	0.01
18	32720249	C	T	18	35140285	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	9.9840370570771E-6	0.026
18	32720250	T	A	18	35140286	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999656487550676	0.934
18	32720250	T	C	18	35140286	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.55695675966767E-5	0.014
18	32720250	T	G	18	35140286	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00103169895133372	0.156
18	32720251	G	A	18	35140287	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.77630067958798E-5	0.024
18	32720251	G	C	18	35140287	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.8491680930283E-5	0.074
18	32720251	G	T	18	35140287	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.08968436393553E-5	0.006
18	32720252	C	A	18	35140288	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.025932221083683	0.286
18	32720252	C	G	18	35140288	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00896070297533629	0.28
18	32720252	C	T	18	35140288	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.84722904217043E-4	0.038
18	32720253	C	A	18	35140289	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0378728861625018	0.354
18	32720253	C	G	18	35140289	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0916177815176546	0.374
18	32720253	C	T	18	35140289	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	5.81128074112173E-4	0.156
18	32720254	C	A	18	35140290	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00119752008907103	0.128
18	32720254	C	G	18	35140290	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.00211794116976333	0.066
18	32720254	C	T	18	35140290	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.46868035265955E-5	0.016
18	32720255	A	C	18	35140291	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	2.88012218456742E-5	0.0
18	32720255	A	G	18	35140291	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	3.62294275228033E-5	0.0
18	32720255	A	T	18	35140291	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	8.15540246155546E-5	0.002
18	32720256	C	A	18	35140292	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.998944015920805	0.896
18	32720256	C	G	18	35140292	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.999844557606753	0.96
18	32720256	C	T	18	35140292	y	y	intronic	MAPRE2	.	.	intronic	ENSG00000166974	.	.	0.0635158836915949	0.124
18	32720257	A	C	18	35140293	y	y	splicing	MAPRE2(NM_001143826:exon8:c.781-2A>C;NM_001143827:exon8:c.874-2A>C;NM_014268:exon7:c.910-2A>C;NM_001256420:exon6:c.751-2A>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon8:c.781-2A>C;ENST00000436190:exon8:c.874-2A>C;ENST00000300249:exon7:c.910-2A>C;ENST00000538170:exon6:c.751-2A>C;ENST00000589699:exon7:c.781-2A>C)	.	.	0.999989917668626	0.876
18	32720257	A	G	18	35140293	y	y	splicing	MAPRE2(NM_001143826:exon8:c.781-2A>G;NM_001143827:exon8:c.874-2A>G;NM_014268:exon7:c.910-2A>G;NM_001256420:exon6:c.751-2A>G)	.	.	splicing	ENSG00000166974(ENST00000413393:exon8:c.781-2A>G;ENST00000436190:exon8:c.874-2A>G;ENST00000300249:exon7:c.910-2A>G;ENST00000538170:exon6:c.751-2A>G;ENST00000589699:exon7:c.781-2A>G)	.	.	0.999989917668626	0.912
18	32720257	A	T	18	35140293	y	y	splicing	MAPRE2(NM_001143826:exon8:c.781-2A>T;NM_001143827:exon8:c.874-2A>T;NM_014268:exon7:c.910-2A>T;NM_001256420:exon6:c.751-2A>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon8:c.781-2A>T;ENST00000436190:exon8:c.874-2A>T;ENST00000300249:exon7:c.910-2A>T;ENST00000538170:exon6:c.751-2A>T;ENST00000589699:exon7:c.781-2A>T)	.	.	0.999989917668626	0.926
18	32720258	G	A	18	35140294	y	y	splicing	MAPRE2(NM_001143826:exon8:c.781-1G>A;NM_001143827:exon8:c.874-1G>A;NM_014268:exon7:c.910-1G>A;NM_001256420:exon6:c.751-1G>A)	.	.	splicing	ENSG00000166974(ENST00000413393:exon8:c.781-1G>A;ENST00000436190:exon8:c.874-1G>A;ENST00000300249:exon7:c.910-1G>A;ENST00000538170:exon6:c.751-1G>A;ENST00000589699:exon7:c.781-1G>A)	.	.	0.999986675681007	0.932
18	32720258	G	C	18	35140294	y	y	splicing	MAPRE2(NM_001143826:exon8:c.781-1G>C;NM_001143827:exon8:c.874-1G>C;NM_014268:exon7:c.910-1G>C;NM_001256420:exon6:c.751-1G>C)	.	.	splicing	ENSG00000166974(ENST00000413393:exon8:c.781-1G>C;ENST00000436190:exon8:c.874-1G>C;ENST00000300249:exon7:c.910-1G>C;ENST00000538170:exon6:c.751-1G>C;ENST00000589699:exon7:c.781-1G>C)	.	.	0.999986675681007	0.932
18	32720258	G	T	18	35140294	y	y	splicing	MAPRE2(NM_001143826:exon8:c.781-1G>T;NM_001143827:exon8:c.874-1G>T;NM_014268:exon7:c.910-1G>T;NM_001256420:exon6:c.751-1G>T)	.	.	splicing	ENSG00000166974(ENST00000413393:exon8:c.781-1G>T;ENST00000436190:exon8:c.874-1G>T;ENST00000300249:exon7:c.910-1G>T;ENST00000538170:exon6:c.751-1G>T;ENST00000589699:exon7:c.781-1G>T)	.	.	0.999986675681007	0.932
18	32720259	G	A	18	35140295	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon8:c.G781A:p.E261K;MAPRE2:NM_014268:exon7:c.G910A:p.E304K;MAPRE2:NM_001143827:exon8:c.G874A:p.E292K;MAPRE2:NM_001256420:exon6:c.G751A:p.E251K;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon8:c.G781A:p.E261K;ENSG00000166974:ENST00000300249:exon7:c.G910A:p.E304K;ENSG00000166974:ENST00000538170:exon6:c.G751A:p.E251K;ENSG00000166974:ENST00000589699:exon7:c.G781A:p.E261K;ENSG00000166974:ENST00000436190:exon8:c.G874A:p.E292K;	0.998945842433534	0.848
18	32720259	G	C	18	35140295	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon8:c.G781C:p.E261Q;MAPRE2:NM_014268:exon7:c.G910C:p.E304Q;MAPRE2:NM_001143827:exon8:c.G874C:p.E292Q;MAPRE2:NM_001256420:exon6:c.G751C:p.E251Q;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon8:c.G781C:p.E261Q;ENSG00000166974:ENST00000300249:exon7:c.G910C:p.E304Q;ENSG00000166974:ENST00000538170:exon6:c.G751C:p.E251Q;ENSG00000166974:ENST00000589699:exon7:c.G781C:p.E261Q;ENSG00000166974:ENST00000436190:exon8:c.G874C:p.E292Q;	0.995807590583119	0.862
18	32720259	G	T	18	35140295	y	y	exonic	MAPRE2	stopgain SNV	MAPRE2:NM_001143826:exon8:c.G781T:p.E261X;MAPRE2:NM_014268:exon7:c.G910T:p.E304X;MAPRE2:NM_001143827:exon8:c.G874T:p.E292X;MAPRE2:NM_001256420:exon6:c.G751T:p.E251X;	exonic	ENSG00000166974	stopgain SNV	ENSG00000166974:ENST00000413393:exon8:c.G781T:p.E261X;ENSG00000166974:ENST00000300249:exon7:c.G910T:p.E304X;ENSG00000166974:ENST00000538170:exon6:c.G751T:p.E251X;ENSG00000166974:ENST00000589699:exon7:c.G781T:p.E261X;ENSG00000166974:ENST00000436190:exon8:c.G874T:p.E292X;	0.999813690931026	0.98
18	32720260	A	C	18	35140296	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon8:c.A782C:p.E261A;MAPRE2:NM_014268:exon7:c.A911C:p.E304A;MAPRE2:NM_001143827:exon8:c.A875C:p.E292A;MAPRE2:NM_001256420:exon6:c.A752C:p.E251A;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon8:c.A782C:p.E261A;ENSG00000166974:ENST00000300249:exon7:c.A911C:p.E304A;ENSG00000166974:ENST00000538170:exon6:c.A752C:p.E251A;ENSG00000166974:ENST00000589699:exon7:c.A782C:p.E261A;ENSG00000166974:ENST00000436190:exon8:c.A875C:p.E292A;	0.0239846133601072	0.184
18	32720260	A	G	18	35140296	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon8:c.A782G:p.E261G;MAPRE2:NM_014268:exon7:c.A911G:p.E304G;MAPRE2:NM_001143827:exon8:c.A875G:p.E292G;MAPRE2:NM_001256420:exon6:c.A752G:p.E251G;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon8:c.A782G:p.E261G;ENSG00000166974:ENST00000300249:exon7:c.A911G:p.E304G;ENSG00000166974:ENST00000538170:exon6:c.A752G:p.E251G;ENSG00000166974:ENST00000589699:exon7:c.A782G:p.E261G;ENSG00000166974:ENST00000436190:exon8:c.A875G:p.E292G;	0.123248957341555	0.446
18	32720260	A	T	18	35140296	y	y	exonic	MAPRE2	nonsynonymous SNV	MAPRE2:NM_001143826:exon8:c.A782T:p.E261V;MAPRE2:NM_014268:exon7:c.A911T:p.E304V;MAPRE2:NM_001143827:exon8:c.A875T:p.E292V;MAPRE2:NM_001256420:exon6:c.A752T:p.E251V;	exonic	ENSG00000166974	nonsynonymous SNV	ENSG00000166974:ENST00000413393:exon8:c.A782T:p.E261V;ENSG00000166974:ENST00000300249:exon7:c.A911T:p.E304V;ENSG00000166974:ENST00000538170:exon6:c.A752T:p.E251V;ENSG00000166974:ENST00000589699:exon7:c.A782T:p.E261V;ENSG00000166974:ENST00000436190:exon8:c.A875T:p.E292V;	0.19907823135588	0.494
18	32821033	G	A	18	35241069	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.94615721382208E-5	0.014
18	32821033	G	C	18	35241069	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.94615721382208E-5	0.004
18	32821033	G	T	18	35241069	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.94615721382208E-5	0.004
18	32821034	G	A	18	35241070	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.51591174045998E-4	0.006
18	32821034	G	C	18	35241070	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.00961143325455E-4	0.006
18	32821034	G	T	18	35241070	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.51591174045998E-4	0.008
18	32821035	G	A	18	35241071	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.51591174045998E-4	0.008
18	32821035	G	C	18	35241071	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.00961143325455E-4	0.008
18	32821035	G	T	18	35241071	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.51591174045998E-4	0.006
18	32821036	G	A	18	35241072	n	y	UTR5	ZNF397	.	.	splicing	ENSG00000186812	.	.	9.16811292047004E-4	0.004
18	32821036	G	C	18	35241072	n	y	UTR5	ZNF397	.	.	splicing	ENSG00000186812	.	.	5.22244873056314E-4	0.002
18	32821036	G	T	18	35241072	n	y	UTR5	ZNF397	.	.	splicing	ENSG00000186812	.	.	6.81050447486223E-4	0.006
18	32821037	T	A	18	35241073	n	y	UTR5	ZNF397	.	.	splicing	ENSG00000186812	.	.	1.14958399381003E-4	0.0
18	32821037	T	C	18	35241073	n	y	UTR5	ZNF397	.	.	splicing	ENSG00000186812	.	.	1.60324765012921E-4	0.006
18	32821037	T	G	18	35241073	n	y	UTR5	ZNF397	.	.	splicing	ENSG00000186812	.	.	1.60324765012921E-4	0.008
18	32821038	G	A	18	35241074	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.61210102631624E-4	0.0
18	32821038	G	C	18	35241074	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	9.30495912515022E-5	0.0
18	32821038	G	T	18	35241074	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.61210102631624E-4	0.02
18	32821039	G	A	18	35241075	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.07548002777155E-4	0.0
18	32821039	G	C	18	35241075	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.07548002777155E-4	0.0
18	32821039	G	T	18	35241075	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.07548002777155E-4	0.0
18	32821040	G	A	18	35241076	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	9.07282077208958E-4	0.01
18	32821040	G	C	18	35241076	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	9.16811292047004E-4	0.012
18	32821040	G	T	18	35241076	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	9.16811292047004E-4	0.006
18	32821041	T	A	18	35241077	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	9.80513762034862E-5	0.002
18	32821041	T	C	18	35241077	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.30197097858482E-4	0.0
18	32821041	T	G	18	35241077	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.30197097858482E-4	0.0
18	32821042	G	A	18	35241078	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.01222157793641E-4	0.036
18	32821042	G	C	18	35241078	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.01222157793641E-4	0.038
18	32821042	G	T	18	35241078	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.01222157793641E-4	0.036
18	32821043	G	A	18	35241079	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.0118721215473808	0.04
18	32821043	G	C	18	35241079	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.0118721215473808	0.046
18	32821043	G	T	18	35241079	n	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.0118721215473808	0.036
18	32821071	G	A	18	35241107	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.21528245188078E-4	0.082
18	32821071	G	C	18	35241107	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.58963156656184E-4	0.024
18	32821071	G	T	18	35241107	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	5.15238780238948E-4	0.126
18	32821072	C	A	18	35241108	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	3.9959065713255E-5	0.084
18	32821072	C	G	18	35241108	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.00194957925442167	0.054
18	32821072	C	T	18	35241108	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.00247098807421216	0.062
18	32821073	G	A	18	35241109	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.999953655291509	0.99
18	32821073	G	C	18	35241109	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.999792749551599	0.948
18	32821073	G	T	18	35241109	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.999657993481024	0.912
18	32821074	G	A	18	35241110	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.99997771086178	0.948
18	32821074	G	C	18	35241110	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.99997771086178	0.94
18	32821074	G	T	18	35241110	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.99997771086178	0.946
18	32821075	T	A	18	35241111	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.99994568797423	0.942
18	32821075	T	C	18	35241111	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.999924590525143	0.97
18	32821075	T	G	18	35241111	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.999946188727699	0.942
18	32821076	G	A	18	35241112	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	7.99541332171742E-4	0.04
18	32821076	G	C	18	35241112	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.995706319269247	0.79
18	32821076	G	T	18	35241112	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.999390661926823	0.67
18	32821077	A	C	18	35241113	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.351494380336358	0.63
18	32821077	A	G	18	35241113	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.984599647006198	0.81
18	32821077	A	T	18	35241113	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.982747135692057	0.78
18	32821078	G	A	18	35241114	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.999975570345036	0.942
18	32821078	G	C	18	35241114	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.999643300484074	0.838
18	32821078	G	T	18	35241114	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.999954475176874	0.978
18	32821079	G	A	18	35241115	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.76662765113208E-4	0.032
18	32821079	G	C	18	35241115	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.86720777951186E-4	0.032
18	32821079	G	T	18	35241115	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	7.20900924229465E-5	0.008
18	32821080	G	A	18	35241116	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	5.57952925887426E-4	0.006
18	32821080	G	C	18	35241116	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	9.07202986057142E-4	0.004
18	32821080	G	T	18	35241116	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.0012926121112295	0.006
18	32821081	A	C	18	35241117	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.11682967704576E-4	0.0
18	32821081	A	G	18	35241117	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	8.90239614768391E-5	0.0
18	32821081	A	T	18	35241117	y	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	7.67064143948644E-5	0.0
18	32821652	A	C	18	35241688	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.94615721382208E-5	0.002
18	32821652	A	G	18	35241688	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.94615721382208E-5	0.002
18	32821652	A	T	18	35241688	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.94615721382208E-5	0.01
18	32821653	T	A	18	35241689	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	1.86918043364164E-4	0.0
18	32821653	T	C	18	35241689	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.66777610808291E-4	0.004
18	32821653	T	G	18	35241689	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	2.66777610808291E-4	0.0
18	32821654	G	A	18	35241690	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	6.27477746119029E-5	0.0
18	32821654	G	C	18	35241690	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	3.69930370103191E-5	0.0
18	32821654	G	T	18	35241690	n	y	intronic	ZNF397	.	.	UTR5	ENSG00000186812	.	.	5.31689052743192E-5	0.0
18	32821655	G	A	18	35241691	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812	.	.	1.05918261028706E-4	0.0
18	32821655	G	C	18	35241691	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812	.	.	6.24453633365032E-5	0.0
18	32821655	G	T	18	35241691	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812	.	.	8.18508521125715E-5	0.0
18	32821656	T	A	18	35241692	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812	.	.	6.46844991217429E-5	0.0
18	32821656	T	C	18	35241692	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812	.	.	6.46844991217429E-5	0.0
18	32821656	T	G	18	35241692	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812	.	.	6.46844991217429E-5	0.0
18	32821657	A	C	18	35241693	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.67378569920084E-5	0.004
18	32821657	A	G	18	35241693	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.67378569920084E-5	0.004
18	32821657	A	T	18	35241693	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.67378569920084E-5	0.004
18	32821658	A	C	18	35241694	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	9.1664329175526E-4	0.002
18	32821658	A	G	18	35241694	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	9.1664329175526E-4	0.002
18	32821658	A	T	18	35241694	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.0012338591716885	0.022
18	32821659	G	A	18	35241695	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.68256441675417E-5	0.0
18	32821659	G	C	18	35241695	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	3.93972165730067E-5	0.0
18	32821659	G	T	18	35241695	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.68256441675417E-5	0.0
18	32821660	C	A	18	35241696	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	7.66901453745597E-5	0.006
18	32821660	C	G	18	35241696	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.5908222467397E-5	0.006
18	32821660	C	T	18	35241696	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.07902708129146E-4	0.008
18	32821661	A	C	18	35241697	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.67378569920084E-5	0.004
18	32821661	A	G	18	35241697	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.67378569920084E-5	0.004
18	32821661	A	T	18	35241697	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.67378569920084E-5	0.004
18	32821662	T	A	18	35241698	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	7.88901258699267E-5	0.002
18	32821662	T	C	18	35241698	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	5.48893788513386E-5	0.002
18	32821662	T	G	18	35241698	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	5.48893788513386E-5	0.002
18	32822343	T	A	18	35242379	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.266626773723946	0.542
18	32822343	T	C	18	35242379	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	3.14236391918139E-4	0.014
18	32822343	T	G	18	35242379	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.321639455748533	0.428
18	32822344	A	C	18	35242380	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.10863625434813E-4	0.0
18	32822344	A	G	18	35242380	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.93337628228841E-5	0.004
18	32822344	A	T	18	35242380	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.51635674289002E-4	0.04
18	32822345	T	A	18	35242381	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.523714738148175	0.588
18	32822345	T	C	18	35242381	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00217850252161829	0.03
18	32822345	T	G	18	35242381	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.999874953235028	0.97
18	32822346	A	C	18	35242382	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.55771187291181E-4	0.0
18	32822346	A	G	18	35242382	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	9.19949970162696E-5	0.002
18	32822346	A	T	18	35242382	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.25235674985247E-5	0.002
18	32822347	T	A	18	35242383	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.100332513150837	0.204
18	32822347	T	C	18	35242383	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00185464744367444	0.014
18	32822347	T	G	18	35242383	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.999882961608375	0.956
18	32822348	C	A	18	35242384	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.49864712963101E-4	0.076
18	32822348	C	G	18	35242384	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	7.74934670421716E-4	0.044
18	32822348	C	T	18	35242384	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	3.68619228751147E-5	0.002
18	32822349	C	A	18	35242385	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00896548316841017	0.158
18	32822349	C	G	18	35242385	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00621393174994328	0.186
18	32822349	C	T	18	35242385	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	7.0113480998367E-5	0.004
18	32822350	T	A	18	35242386	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.603212689479844	0.356
18	32822350	T	C	18	35242386	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.4700991848651E-4	0.042
18	32822350	T	G	18	35242386	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.833965761921386	0.388
18	32822351	T	A	18	35242387	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.03708750028483E-5	0.0
18	32822351	T	C	18	35242387	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.22053970359787E-5	0.0
18	32822351	T	G	18	35242387	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.09897244789423E-4	0.0
18	32822352	C	A	18	35242388	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.646099976913602	0.418
18	32822352	C	G	18	35242388	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.99625143233806	0.79
18	32822352	C	T	18	35242388	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.61992501958164E-4	0.014
18	32822353	A	C	18	35242389	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.999967001206676	0.93
18	32822353	A	G	18	35242389	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.999967001206676	0.934
18	32822353	A	T	18	35242389	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.999967001206676	0.928
18	32822354	G	A	18	35242390	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.999938422912956	0.934
18	32822354	G	C	18	35242390	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.999938422912956	0.928
18	32822354	G	T	18	35242390	y	y	splicing	ZNF397	.	.	splicing	ENSG00000186812	.	.	0.999938422912956	0.934
18	32822355	G	A	18	35242391	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.990958328626595	0.716
18	32822355	G	C	18	35242391	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.995908437782285	0.944
18	32822355	G	T	18	35242391	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.997411908801601	0.982
18	32822356	A	C	18	35242392	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.021789201013302	0.098
18	32822356	A	G	18	35242392	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.00179720434399375	0.066
18	32822356	A	T	18	35242392	y	y	UTR5	ZNF397	.	.	UTR5	ENSG00000186812	.	.	0.00225426052647113	0.07
18	32822846	C	A	18	35242882	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon2:c.C412A:p.Q138K;ZNF397:NM_001135178:exon2:c.C412A:p.Q138K;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon2:c.C412A:p.Q138K;ENSG00000186812:ENST00000355632:exon2:c.C412A:p.Q138K;ENSG00000186812:ENST00000585800:exon2:c.C412A:p.Q138K;ENSG00000186812:ENST00000261333:exon2:c.C412A:p.Q138K;ENSG00000186812:ENST00000330501:exon2:c.C412A:p.Q138K;ENSG00000186812:ENST00000601719:exon2:c.C412A:p.Q138K;ENSG00000186812:ENST00000592264:exon1:c.C412A:p.Q138K;	0.942278568970799	0.704
18	32822846	C	G	18	35242882	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon2:c.C412G:p.Q138E;ZNF397:NM_001135178:exon2:c.C412G:p.Q138E;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon2:c.C412G:p.Q138E;ENSG00000186812:ENST00000355632:exon2:c.C412G:p.Q138E;ENSG00000186812:ENST00000585800:exon2:c.C412G:p.Q138E;ENSG00000186812:ENST00000261333:exon2:c.C412G:p.Q138E;ENSG00000186812:ENST00000330501:exon2:c.C412G:p.Q138E;ENSG00000186812:ENST00000601719:exon2:c.C412G:p.Q138E;ENSG00000186812:ENST00000592264:exon1:c.C412G:p.Q138E;	0.983337489009231	0.698
18	32822846	C	T	18	35242882	y	n	exonic	ZNF397	stopgain SNV	ZNF397:NM_032347:exon2:c.C412T:p.Q138X;ZNF397:NM_001135178:exon2:c.C412T:p.Q138X;	exonic	ENSG00000186812	stopgain SNV	ENSG00000186812:ENST00000591206:exon2:c.C412T:p.Q138X;ENSG00000186812:ENST00000355632:exon2:c.C412T:p.Q138X;ENSG00000186812:ENST00000585800:exon2:c.C412T:p.Q138X;ENSG00000186812:ENST00000261333:exon2:c.C412T:p.Q138X;ENSG00000186812:ENST00000330501:exon2:c.C412T:p.Q138X;ENSG00000186812:ENST00000601719:exon2:c.C412T:p.Q138X;ENSG00000186812:ENST00000592264:exon1:c.C412T:p.Q138X;	0.999866357561276	0.992
18	32822847	A	C	18	35242883	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon2:c.A413C:p.Q138P;ZNF397:NM_001135178:exon2:c.A413C:p.Q138P;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon2:c.A413C:p.Q138P;ENSG00000186812:ENST00000355632:exon2:c.A413C:p.Q138P;ENSG00000186812:ENST00000585800:exon2:c.A413C:p.Q138P;ENSG00000186812:ENST00000261333:exon2:c.A413C:p.Q138P;ENSG00000186812:ENST00000330501:exon2:c.A413C:p.Q138P;ENSG00000186812:ENST00000601719:exon2:c.A413C:p.Q138P;ENSG00000186812:ENST00000592264:exon1:c.A413C:p.Q138P;	0.999636552713407	0.982
18	32822847	A	G	18	35242883	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon2:c.A413G:p.Q138R;ZNF397:NM_001135178:exon2:c.A413G:p.Q138R;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon2:c.A413G:p.Q138R;ENSG00000186812:ENST00000355632:exon2:c.A413G:p.Q138R;ENSG00000186812:ENST00000585800:exon2:c.A413G:p.Q138R;ENSG00000186812:ENST00000261333:exon2:c.A413G:p.Q138R;ENSG00000186812:ENST00000330501:exon2:c.A413G:p.Q138R;ENSG00000186812:ENST00000601719:exon2:c.A413G:p.Q138R;ENSG00000186812:ENST00000592264:exon1:c.A413G:p.Q138R;	0.999960884766855	0.998
18	32822847	A	T	18	35242883	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon2:c.A413T:p.Q138L;ZNF397:NM_001135178:exon2:c.A413T:p.Q138L;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon2:c.A413T:p.Q138L;ENSG00000186812:ENST00000355632:exon2:c.A413T:p.Q138L;ENSG00000186812:ENST00000585800:exon2:c.A413T:p.Q138L;ENSG00000186812:ENST00000261333:exon2:c.A413T:p.Q138L;ENSG00000186812:ENST00000330501:exon2:c.A413T:p.Q138L;ENSG00000186812:ENST00000601719:exon2:c.A413T:p.Q138L;ENSG00000186812:ENST00000592264:exon1:c.A413T:p.Q138L;	0.99993532800037	1.0
18	32822848	G	A	18	35242884	y	n	exonic	ZNF397	synonymous SNV	ZNF397:NM_032347:exon2:c.G414A:p.Q138Q;ZNF397:NM_001135178:exon2:c.G414A:p.Q138Q;	exonic	ENSG00000186812	synonymous SNV	ENSG00000186812:ENST00000591206:exon2:c.G414A:p.Q138Q;ENSG00000186812:ENST00000355632:exon2:c.G414A:p.Q138Q;ENSG00000186812:ENST00000585800:exon2:c.G414A:p.Q138Q;ENSG00000186812:ENST00000261333:exon2:c.G414A:p.Q138Q;ENSG00000186812:ENST00000330501:exon2:c.G414A:p.Q138Q;ENSG00000186812:ENST00000601719:exon2:c.G414A:p.Q138Q;ENSG00000186812:ENST00000592264:exon1:c.G414A:p.Q138Q;	0.999991687874145	0.984
18	32822848	G	C	18	35242884	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon2:c.G414C:p.Q138H;ZNF397:NM_001135178:exon2:c.G414C:p.Q138H;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon2:c.G414C:p.Q138H;ENSG00000186812:ENST00000355632:exon2:c.G414C:p.Q138H;ENSG00000186812:ENST00000585800:exon2:c.G414C:p.Q138H;ENSG00000186812:ENST00000261333:exon2:c.G414C:p.Q138H;ENSG00000186812:ENST00000330501:exon2:c.G414C:p.Q138H;ENSG00000186812:ENST00000601719:exon2:c.G414C:p.Q138H;ENSG00000186812:ENST00000592264:exon1:c.G414C:p.Q138H;	0.999997871243653	1.0
18	32822848	G	T	18	35242884	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon2:c.G414T:p.Q138H;ZNF397:NM_001135178:exon2:c.G414T:p.Q138H;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon2:c.G414T:p.Q138H;ENSG00000186812:ENST00000355632:exon2:c.G414T:p.Q138H;ENSG00000186812:ENST00000585800:exon2:c.G414T:p.Q138H;ENSG00000186812:ENST00000261333:exon2:c.G414T:p.Q138H;ENSG00000186812:ENST00000330501:exon2:c.G414T:p.Q138H;ENSG00000186812:ENST00000601719:exon2:c.G414T:p.Q138H;ENSG00000186812:ENST00000592264:exon1:c.G414T:p.Q138H;	0.9999909253838	1.0
18	32822849	G	A	18	35242885	y	n	splicing	ZNF397(NM_001135178:exon2:c.414+1G>A;NM_032347:exon2:c.414+1G>A)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon2:c.414+1G>A;ENST00000591206:exon2:c.414+1G>A;ENST00000355632:exon2:c.414+1G>A;ENST00000261333:exon2:c.414+1G>A;ENST00000585800:exon2:c.414+1G>A;ENST00000592264:exon1:c.414+1G>A)	unknown	UNKNOWN	0.999977919436194	0.936
18	32822849	G	C	18	35242885	y	n	splicing	ZNF397(NM_001135178:exon2:c.414+1G>C;NM_032347:exon2:c.414+1G>C)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon2:c.414+1G>C;ENST00000591206:exon2:c.414+1G>C;ENST00000355632:exon2:c.414+1G>C;ENST00000261333:exon2:c.414+1G>C;ENST00000585800:exon2:c.414+1G>C;ENST00000592264:exon1:c.414+1G>C)	unknown	UNKNOWN	0.999943021995213	0.93
18	32822849	G	T	18	35242885	y	n	splicing	ZNF397(NM_001135178:exon2:c.414+1G>T;NM_032347:exon2:c.414+1G>T)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon2:c.414+1G>T;ENST00000591206:exon2:c.414+1G>T;ENST00000355632:exon2:c.414+1G>T;ENST00000261333:exon2:c.414+1G>T;ENST00000585800:exon2:c.414+1G>T;ENST00000592264:exon1:c.414+1G>T)	unknown	UNKNOWN	0.999977919436194	0.93
18	32822850	T	A	18	35242886	y	n	splicing	ZNF397(NM_001135178:exon2:c.414+2T>A;NM_032347:exon2:c.414+2T>A)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon2:c.414+2T>A;ENST00000591206:exon2:c.414+2T>A;ENST00000355632:exon2:c.414+2T>A;ENST00000261333:exon2:c.414+2T>A;ENST00000585800:exon2:c.414+2T>A;ENST00000592264:exon1:c.414+2T>A)	unknown	UNKNOWN	0.99993872479901	0.934
18	32822850	T	C	18	35242886	y	n	splicing	ZNF397(NM_001135178:exon2:c.414+2T>C;NM_032347:exon2:c.414+2T>C)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon2:c.414+2T>C;ENST00000591206:exon2:c.414+2T>C;ENST00000355632:exon2:c.414+2T>C;ENST00000261333:exon2:c.414+2T>C;ENST00000585800:exon2:c.414+2T>C;ENST00000592264:exon1:c.414+2T>C)	unknown	UNKNOWN	0.999583439591389	0.906
18	32822850	T	G	18	35242886	y	n	splicing	ZNF397(NM_001135178:exon2:c.414+2T>G;NM_032347:exon2:c.414+2T>G)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon2:c.414+2T>G;ENST00000591206:exon2:c.414+2T>G;ENST00000355632:exon2:c.414+2T>G;ENST00000261333:exon2:c.414+2T>G;ENST00000585800:exon2:c.414+2T>G;ENST00000592264:exon1:c.414+2T>G)	unknown	UNKNOWN	0.99993872479901	0.936
18	32822851	G	A	18	35242887	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	1.26009780300797E-4	0.042
18	32822851	G	C	18	35242887	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	0.00238952409205512	0.212
18	32822851	G	T	18	35242887	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	0.00273234156892633	0.192
18	32822852	G	A	18	35242888	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	0.0010650605198342	0.174
18	32822852	G	C	18	35242888	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	0.00143535307438937	0.222
18	32822852	G	T	18	35242888	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	0.00445742782368486	0.124
18	32822853	G	A	18	35242889	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	0.999857289495702	0.994
18	32822853	G	C	18	35242889	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	0.999967014643325	0.98
18	32822853	G	T	18	35242889	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	0.999969415580091	0.99
18	32822854	A	C	18	35242890	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	2.9217067594507E-4	0.032
18	32822854	A	G	18	35242890	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	9.62576583957313E-5	0.016
18	32822854	A	T	18	35242890	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	5.54785853515482E-5	0.01
18	32822855	A	C	18	35242891	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	3.81655185707969E-5	0.014
18	32822855	A	G	18	35242891	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	2.17211501490746E-5	0.014
18	32822855	A	T	18	35242891	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	4.5083929789612E-5	0.014
18	32822856	C	A	18	35242892	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	3.83710984512741E-4	0.02
18	32822856	C	G	18	35242892	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	8.94152959870587E-5	0.002
18	32822856	C	T	18	35242892	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	4.13074006339082E-4	0.028
18	32822903	A	C	18	35242939	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	8.75207953111884E-5	0.0
18	32822903	A	G	18	35242939	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	8.75207953111884E-5	0.0
18	32822903	A	T	18	35242939	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	7.9399606226418E-5	0.0
18	32822904	T	A	18	35242940	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	1.5230933723647E-4	0.0
18	32822904	T	C	18	35242940	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	1.68382980684563E-4	0.0
18	32822904	T	G	18	35242940	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	1.68382980684563E-4	0.0
18	32822905	G	A	18	35242941	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	1.17564447662592E-4	0.0
18	32822905	G	C	18	35242941	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	1.17564447662592E-4	0.0
18	32822905	G	T	18	35242941	n	y	intronic	ZNF397	.	.	exonic	ENSG00000186812	unknown	UNKNOWN	1.17564447662592E-4	0.0
18	32822906	G	A	18	35242942	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812(ENST00000588119:exon1:c.469+1G>A)	.	.	6.46844991217429E-5	0.0
18	32822906	G	C	18	35242942	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812(ENST00000588119:exon1:c.469+1G>C)	.	.	1.17564447662592E-4	0.0
18	32822906	G	T	18	35242942	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812(ENST00000588119:exon1:c.469+1G>T)	.	.	6.46844991217429E-5	0.0
18	32822907	T	A	18	35242943	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812(ENST00000588119:exon1:c.469+2T>A)	.	.	1.80018259252686E-4	0.0
18	32822907	T	C	18	35242943	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812(ENST00000588119:exon1:c.469+2T>C)	.	.	1.09960321947569E-4	0.0
18	32822907	T	G	18	35242943	n	y	intronic	ZNF397	.	.	splicing	ENSG00000186812(ENST00000588119:exon1:c.469+2T>G)	.	.	1.27947803551497E-4	0.0
18	32822908	A	C	18	35242944	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.03510451072954E-4	0.01
18	32822908	A	G	18	35242944	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.03510451072954E-4	0.006
18	32822908	A	T	18	35242944	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	9.42277051898926E-5	0.0
18	32822909	T	A	18	35242945	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.29075920238517E-4	0.012
18	32822909	T	C	18	35242945	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.35684985412546E-4	0.014
18	32822909	T	G	18	35242945	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.35684985412546E-4	0.02
18	32822910	C	A	18	35242946	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.07770017689499E-4	0.0
18	32822910	C	G	18	35242946	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.32818761034699E-5	0.0
18	32822910	C	T	18	35242946	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.07770017689499E-4	0.0
18	32822911	A	C	18	35242947	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.552751562108E-5	0.004
18	32822911	A	G	18	35242947	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.552751562108E-5	0.004
18	32822911	A	T	18	35242947	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.552751562108E-5	0.006
18	32822912	T	A	18	35242948	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.82939670392646E-5	0.0
18	32822912	T	C	18	35242948	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.82939670392646E-5	0.0
18	32822912	T	G	18	35242948	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.82939670392646E-5	0.002
18	32822913	A	C	18	35242949	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.93008933363103E-5	0.0
18	32822913	A	G	18	35242949	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.93008933363103E-5	0.0
18	32822913	A	T	18	35242949	n	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.93008933363103E-5	0.0
18	32823104	T	A	18	35243140	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00856630708059337	0.158
18	32823104	T	C	18	35243140	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.96521679792114E-5	0.002
18	32823104	T	G	18	35243140	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00491598418380178	0.17
18	32823105	A	C	18	35243141	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.46798659997687E-5	0.002
18	32823105	A	G	18	35243141	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.09402054515615E-5	0.002
18	32823105	A	T	18	35243141	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.71361979259657E-5	0.032
18	32823106	C	A	18	35243142	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	5.04817357999957E-4	0.048
18	32823106	C	G	18	35243142	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.998284244450672	0.964
18	32823106	C	T	18	35243142	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	3.1604453078383E-5	0.0
18	32823107	T	A	18	35243143	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.999824116022101	0.962
18	32823107	T	C	18	35243143	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	9.29307553018779E-5	0.002
18	32823107	T	G	18	35243143	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.020469584378577	0.16
18	32823108	G	A	18	35243144	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.35450907864636E-4	0.084
18	32823108	G	C	18	35243144	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.45375032784008E-4	0.048
18	32823108	G	T	18	35243144	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.2959103267603E-4	0.048
18	32823109	A	C	18	35243145	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	5.10854056583963E-5	0.006
18	32823109	A	G	18	35243145	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	4.4397131142504E-5	0.008
18	32823109	A	T	18	35243145	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	5.73080821299517E-5	0.006
18	32823110	T	A	18	35243146	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.910932432986022	0.716
18	32823110	T	C	18	35243146	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00104268686239526	0.018
18	32823110	T	G	18	35243146	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.999967916745541	0.96
18	32823111	T	A	18	35243147	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.987803071458853	0.796
18	32823111	T	C	18	35243147	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.0218592235488446	0.106
18	32823111	T	G	18	35243147	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.976150540770291	0.726
18	32823112	T	A	18	35243148	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00223250402235535	0.046
18	32823112	T	C	18	35243148	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.84753824787855E-4	0.012
18	32823112	T	G	18	35243148	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	3.63780744690425E-4	0.02
18	32823113	C	A	18	35243149	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.99686733480994	0.842
18	32823113	C	G	18	35243149	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.99991575034346	0.964
18	32823113	C	T	18	35243149	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.115707464226186	0.166
18	32823114	A	C	18	35243150	y	y	splicing	ZNF397(NM_001135178:exon3:c.415-2A>C;NM_032347:exon3:c.415-2A>C)	.	.	splicing	ENSG00000186812(ENST00000330501:exon3:c.415-2A>C;ENST00000591206:exon3:c.415-2A>C;ENST00000355632:exon3:c.415-2A>C;ENST00000261333:exon3:c.415-2A>C;ENST00000585800:exon3:c.415-2A>C;ENST00000592264:exon2:c.415-2A>C;ENST00000588119:exon2:c.470-2A>C)	.	.	0.999988247793601	0.926
18	32823114	A	G	18	35243150	y	y	splicing	ZNF397(NM_001135178:exon3:c.415-2A>G;NM_032347:exon3:c.415-2A>G)	.	.	splicing	ENSG00000186812(ENST00000330501:exon3:c.415-2A>G;ENST00000591206:exon3:c.415-2A>G;ENST00000355632:exon3:c.415-2A>G;ENST00000261333:exon3:c.415-2A>G;ENST00000585800:exon3:c.415-2A>G;ENST00000592264:exon2:c.415-2A>G;ENST00000588119:exon2:c.470-2A>G)	.	.	0.999988247793601	0.926
18	32823114	A	T	18	35243150	y	y	splicing	ZNF397(NM_001135178:exon3:c.415-2A>T;NM_032347:exon3:c.415-2A>T)	.	.	splicing	ENSG00000186812(ENST00000330501:exon3:c.415-2A>T;ENST00000591206:exon3:c.415-2A>T;ENST00000355632:exon3:c.415-2A>T;ENST00000261333:exon3:c.415-2A>T;ENST00000585800:exon3:c.415-2A>T;ENST00000592264:exon2:c.415-2A>T;ENST00000588119:exon2:c.470-2A>T)	.	.	0.999988247793601	0.926
18	32823115	G	A	18	35243151	y	y	splicing	ZNF397(NM_001135178:exon3:c.415-1G>A;NM_032347:exon3:c.415-1G>A)	.	.	splicing	ENSG00000186812(ENST00000330501:exon3:c.415-1G>A;ENST00000591206:exon3:c.415-1G>A;ENST00000355632:exon3:c.415-1G>A;ENST00000261333:exon3:c.415-1G>A;ENST00000585800:exon3:c.415-1G>A;ENST00000592264:exon2:c.415-1G>A;ENST00000588119:exon2:c.470-1G>A)	.	.	0.999986675681007	0.934
18	32823115	G	C	18	35243151	y	y	splicing	ZNF397(NM_001135178:exon3:c.415-1G>C;NM_032347:exon3:c.415-1G>C)	.	.	splicing	ENSG00000186812(ENST00000330501:exon3:c.415-1G>C;ENST00000591206:exon3:c.415-1G>C;ENST00000355632:exon3:c.415-1G>C;ENST00000261333:exon3:c.415-1G>C;ENST00000585800:exon3:c.415-1G>C;ENST00000592264:exon2:c.415-1G>C;ENST00000588119:exon2:c.470-1G>C)	.	.	0.999976137096505	0.936
18	32823115	G	T	18	35243151	y	y	splicing	ZNF397(NM_001135178:exon3:c.415-1G>T;NM_032347:exon3:c.415-1G>T)	.	.	splicing	ENSG00000186812(ENST00000330501:exon3:c.415-1G>T;ENST00000591206:exon3:c.415-1G>T;ENST00000355632:exon3:c.415-1G>T;ENST00000261333:exon3:c.415-1G>T;ENST00000585800:exon3:c.415-1G>T;ENST00000592264:exon2:c.415-1G>T;ENST00000588119:exon2:c.470-1G>T)	.	.	0.999981447013919	0.934
18	32823116	G	A	18	35243152	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G415A:p.V139I;ZNF397:NM_001135178:exon3:c.G415A:p.V139I;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G415A:p.V139I;ENSG00000186812:ENST00000355632:exon3:c.G415A:p.V139I;ENSG00000186812:ENST00000585800:exon3:c.G415A:p.V139I;ENSG00000186812:ENST00000261333:exon3:c.G415A:p.V139I;ENSG00000186812:ENST00000330501:exon3:c.G415A:p.V139I;ENSG00000186812:ENST00000592264:exon2:c.G415A:p.V139I;	0.00682467563941524	0.152
18	32823116	G	C	18	35243152	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G415C:p.V139L;ZNF397:NM_001135178:exon3:c.G415C:p.V139L;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G415C:p.V139L;ENSG00000186812:ENST00000355632:exon3:c.G415C:p.V139L;ENSG00000186812:ENST00000585800:exon3:c.G415C:p.V139L;ENSG00000186812:ENST00000261333:exon3:c.G415C:p.V139L;ENSG00000186812:ENST00000330501:exon3:c.G415C:p.V139L;ENSG00000186812:ENST00000592264:exon2:c.G415C:p.V139L;	0.673627946528724	0.734
18	32823116	G	T	18	35243152	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G415T:p.V139F;ZNF397:NM_001135178:exon3:c.G415T:p.V139F;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G415T:p.V139F;ENSG00000186812:ENST00000355632:exon3:c.G415T:p.V139F;ENSG00000186812:ENST00000585800:exon3:c.G415T:p.V139F;ENSG00000186812:ENST00000261333:exon3:c.G415T:p.V139F;ENSG00000186812:ENST00000330501:exon3:c.G415T:p.V139F;ENSG00000186812:ENST00000592264:exon2:c.G415T:p.V139F;	0.992035162846588	0.79
18	32823117	T	A	18	35243153	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.T416A:p.V139D;ZNF397:NM_001135178:exon3:c.T416A:p.V139D;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T416A:p.V139D;ENSG00000186812:ENST00000355632:exon3:c.T416A:p.V139D;ENSG00000186812:ENST00000585800:exon3:c.T416A:p.V139D;ENSG00000186812:ENST00000261333:exon3:c.T416A:p.V139D;ENSG00000186812:ENST00000330501:exon3:c.T416A:p.V139D;ENSG00000186812:ENST00000592264:exon2:c.T416A:p.V139D;	6.42466136076938E-5	0.044
18	32823117	T	C	18	35243153	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.T416C:p.V139A;ZNF397:NM_001135178:exon3:c.T416C:p.V139A;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T416C:p.V139A;ENSG00000186812:ENST00000355632:exon3:c.T416C:p.V139A;ENSG00000186812:ENST00000585800:exon3:c.T416C:p.V139A;ENSG00000186812:ENST00000261333:exon3:c.T416C:p.V139A;ENSG00000186812:ENST00000330501:exon3:c.T416C:p.V139A;ENSG00000186812:ENST00000592264:exon2:c.T416C:p.V139A;	0.00257820916968073	0.072
18	32823117	T	G	18	35243153	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.T416G:p.V139G;ZNF397:NM_001135178:exon3:c.T416G:p.V139G;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T416G:p.V139G;ENSG00000186812:ENST00000355632:exon3:c.T416G:p.V139G;ENSG00000186812:ENST00000585800:exon3:c.T416G:p.V139G;ENSG00000186812:ENST00000261333:exon3:c.T416G:p.V139G;ENSG00000186812:ENST00000330501:exon3:c.T416G:p.V139G;ENSG00000186812:ENST00000592264:exon2:c.T416G:p.V139G;	9.65048322431263E-5	0.012
18	32823255	G	A	18	35243291	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G554A:p.S185N;ZNF397:NM_001135178:exon3:c.G554A:p.S185N;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G554A:p.S185N;ENSG00000186812:ENST00000355632:exon3:c.G554A:p.S185N;ENSG00000186812:ENST00000585800:exon3:c.G554A:p.S185N;ENSG00000186812:ENST00000261333:exon3:c.G554A:p.S185N;ENSG00000186812:ENST00000330501:exon3:c.G554A:p.S185N;ENSG00000186812:ENST00000592264:exon2:c.G554A:p.S185N;	4.96444536867253E-4	0.054
18	32823255	G	C	18	35243291	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G554C:p.S185T;ZNF397:NM_001135178:exon3:c.G554C:p.S185T;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G554C:p.S185T;ENSG00000186812:ENST00000355632:exon3:c.G554C:p.S185T;ENSG00000186812:ENST00000585800:exon3:c.G554C:p.S185T;ENSG00000186812:ENST00000261333:exon3:c.G554C:p.S185T;ENSG00000186812:ENST00000330501:exon3:c.G554C:p.S185T;ENSG00000186812:ENST00000592264:exon2:c.G554C:p.S185T;	5.97801309257387E-4	0.034
18	32823255	G	T	18	35243291	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G554T:p.S185I;ZNF397:NM_001135178:exon3:c.G554T:p.S185I;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G554T:p.S185I;ENSG00000186812:ENST00000355632:exon3:c.G554T:p.S185I;ENSG00000186812:ENST00000585800:exon3:c.G554T:p.S185I;ENSG00000186812:ENST00000261333:exon3:c.G554T:p.S185I;ENSG00000186812:ENST00000330501:exon3:c.G554T:p.S185I;ENSG00000186812:ENST00000592264:exon2:c.G554T:p.S185I;	0.00196167435721837	0.122
18	32823256	T	A	18	35243292	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.T555A:p.S185R;ZNF397:NM_001135178:exon3:c.T555A:p.S185R;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T555A:p.S185R;ENSG00000186812:ENST00000355632:exon3:c.T555A:p.S185R;ENSG00000186812:ENST00000585800:exon3:c.T555A:p.S185R;ENSG00000186812:ENST00000261333:exon3:c.T555A:p.S185R;ENSG00000186812:ENST00000330501:exon3:c.T555A:p.S185R;ENSG00000186812:ENST00000592264:exon2:c.T555A:p.S185R;	6.93314718313264E-4	0.234
18	32823256	T	C	18	35243292	y	n	exonic	ZNF397	synonymous SNV	ZNF397:NM_032347:exon3:c.T555C:p.S185S;ZNF397:NM_001135178:exon3:c.T555C:p.S185S;	exonic	ENSG00000186812	synonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T555C:p.S185S;ENSG00000186812:ENST00000355632:exon3:c.T555C:p.S185S;ENSG00000186812:ENST00000585800:exon3:c.T555C:p.S185S;ENSG00000186812:ENST00000261333:exon3:c.T555C:p.S185S;ENSG00000186812:ENST00000330501:exon3:c.T555C:p.S185S;ENSG00000186812:ENST00000592264:exon2:c.T555C:p.S185S;	3.9481466052064E-4	0.014
18	32823256	T	G	18	35243292	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.T555G:p.S185R;ZNF397:NM_001135178:exon3:c.T555G:p.S185R;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T555G:p.S185R;ENSG00000186812:ENST00000355632:exon3:c.T555G:p.S185R;ENSG00000186812:ENST00000585800:exon3:c.T555G:p.S185R;ENSG00000186812:ENST00000261333:exon3:c.T555G:p.S185R;ENSG00000186812:ENST00000330501:exon3:c.T555G:p.S185R;ENSG00000186812:ENST00000592264:exon2:c.T555G:p.S185R;	9.22065600441575E-4	0.048
18	32823257	G	A	18	35243293	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G556A:p.D186N;ZNF397:NM_001135178:exon3:c.G556A:p.D186N;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G556A:p.G186S;ENSG00000186812:ENST00000355632:exon3:c.G556A:p.E186K;ENSG00000186812:ENST00000585800:exon3:c.G556A:p.G186S;ENSG00000186812:ENST00000261333:exon3:c.G556A:p.D186N;ENSG00000186812:ENST00000330501:exon3:c.G556A:p.D186N;ENSG00000186812:ENST00000592264:exon2:c.G556A:p.D186N;	0.999979282001628	1.0
18	32823257	G	C	18	35243293	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G556C:p.D186H;ZNF397:NM_001135178:exon3:c.G556C:p.D186H;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G556C:p.G186R;ENSG00000186812:ENST00000355632:exon3:c.G556C:p.E186Q;ENSG00000186812:ENST00000585800:exon3:c.G556C:p.G186R;ENSG00000186812:ENST00000261333:exon3:c.G556C:p.D186H;ENSG00000186812:ENST00000330501:exon3:c.G556C:p.D186H;ENSG00000186812:ENST00000592264:exon2:c.G556C:p.D186H;	0.999994466467545	0.988
18	32823257	G	T	18	35243293	y	n	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon3:c.G556T:p.D186Y;ZNF397:NM_001135178:exon3:c.G556T:p.D186Y;	exonic	ENSG00000186812	stopgain SNV	ENSG00000186812:ENST00000355632:exon3:c.G556T:p.E186X;	0.999986634639173	0.998
18	32823258	G	A	18	35243294	y	n	splicing	ZNF397(NM_001135178:exon3:c.556+1G>A;NM_032347:exon3:c.556+1G>A)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon3:c.556+1G>A;ENST00000355632:exon3:c.556+1G>A;ENST00000261333:exon3:c.556+1G>A;ENST00000592264:exon2:c.556+1G>A)	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G557A:p.G186D;ENSG00000186812:ENST00000585800:exon3:c.G557A:p.G186D;	0.999945530492988	0.904
18	32823258	G	C	18	35243294	y	n	splicing	ZNF397(NM_001135178:exon3:c.556+1G>C;NM_032347:exon3:c.556+1G>C)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon3:c.556+1G>C;ENST00000355632:exon3:c.556+1G>C;ENST00000261333:exon3:c.556+1G>C;ENST00000592264:exon2:c.556+1G>C)	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G557C:p.G186A;ENSG00000186812:ENST00000585800:exon3:c.G557C:p.G186A;	0.99996748057446	0.904
18	32823258	G	T	18	35243294	y	n	splicing	ZNF397(NM_001135178:exon3:c.556+1G>T;NM_032347:exon3:c.556+1G>T)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon3:c.556+1G>T;ENST00000355632:exon3:c.556+1G>T;ENST00000261333:exon3:c.556+1G>T;ENST00000592264:exon2:c.556+1G>T)	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G557T:p.G186V;ENSG00000186812:ENST00000585800:exon3:c.G557T:p.G186V;	0.99996748057446	0.904
18	32823259	T	A	18	35243295	y	n	splicing	ZNF397(NM_001135178:exon3:c.556+2T>A;NM_032347:exon3:c.556+2T>A)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon3:c.556+2T>A;ENST00000355632:exon3:c.556+2T>A;ENST00000261333:exon3:c.556+2T>A;ENST00000592264:exon2:c.556+2T>A)	synonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T558A:p.G186G;ENSG00000186812:ENST00000585800:exon3:c.T558A:p.G186G;	0.9999784785434	0.942
18	32823259	T	C	18	35243295	y	n	splicing	ZNF397(NM_001135178:exon3:c.556+2T>C;NM_032347:exon3:c.556+2T>C)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon3:c.556+2T>C;ENST00000355632:exon3:c.556+2T>C;ENST00000261333:exon3:c.556+2T>C;ENST00000592264:exon2:c.556+2T>C)	synonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T558C:p.G186G;ENSG00000186812:ENST00000585800:exon3:c.T558C:p.G186G;	0.999969840096588	0.966
18	32823259	T	G	18	35243295	y	n	splicing	ZNF397(NM_001135178:exon3:c.556+2T>G;NM_032347:exon3:c.556+2T>G)	.	.	exonic;splicing	ENSG00000186812;ENSG00000186812(ENST00000330501:exon3:c.556+2T>G;ENST00000355632:exon3:c.556+2T>G;ENST00000261333:exon3:c.556+2T>G;ENST00000592264:exon2:c.556+2T>G)	synonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.T558G:p.G186G;ENSG00000186812:ENST00000585800:exon3:c.T558G:p.G186G;	0.9999784785434	0.936
18	32823260	G	A	18	35243296	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G559A:p.E187K;ENSG00000186812:ENST00000585800:exon3:c.G559A:p.E187K;	2.45122321499339E-5	0.008
18	32823260	G	C	18	35243296	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G559C:p.E187Q;ENSG00000186812:ENST00000585800:exon3:c.G559C:p.E187Q;	0.951325691473087	0.556
18	32823260	G	T	18	35243296	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	stopgain SNV	ENSG00000186812:ENST00000591206:exon3:c.G559T:p.E187X;ENSG00000186812:ENST00000585800:exon3:c.G559T:p.E187X;	0.905824490477559	0.46
18	32823261	A	C	18	35243297	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A560C:p.E187A;ENSG00000186812:ENST00000585800:exon3:c.A560C:p.E187A;	0.987629846437454	0.788
18	32823261	A	G	18	35243297	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A560G:p.E187G;ENSG00000186812:ENST00000585800:exon3:c.A560G:p.E187G;	0.998668875013894	0.85
18	32823261	A	T	18	35243297	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A560T:p.E187V;ENSG00000186812:ENST00000585800:exon3:c.A560T:p.E187V;	0.998668875013894	0.848
18	32823262	G	A	18	35243298	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	synonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G561A:p.E187E;ENSG00000186812:ENST00000585800:exon3:c.G561A:p.E187E;	0.999982598871644	0.994
18	32823262	G	C	18	35243298	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G561C:p.E187D;ENSG00000186812:ENST00000585800:exon3:c.G561C:p.E187D;	0.99998928037365	0.982
18	32823262	G	T	18	35243298	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G561T:p.E187D;ENSG00000186812:ENST00000585800:exon3:c.G561T:p.E187D;	0.999986128097871	0.996
18	32823263	G	A	18	35243299	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G562A:p.E188K;ENSG00000186812:ENST00000585800:exon3:c.G562A:p.E188K;	3.64906334206248E-4	0.06
18	32823263	G	C	18	35243299	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.G562C:p.E188Q;ENSG00000186812:ENST00000585800:exon3:c.G562C:p.E188Q;	9.13588451071528E-4	0.096
18	32823263	G	T	18	35243299	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	stopgain SNV	ENSG00000186812:ENST00000591206:exon3:c.G562T:p.E188X;ENSG00000186812:ENST00000585800:exon3:c.G562T:p.E188X;	2.69039589040813E-4	0.076
18	32823264	A	C	18	35243300	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A563C:p.E188A;ENSG00000186812:ENST00000585800:exon3:c.A563C:p.E188A;	7.45534738411532E-4	0.004
18	32823264	A	G	18	35243300	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A563G:p.E188G;ENSG00000186812:ENST00000585800:exon3:c.A563G:p.E188G;	7.45534738411532E-4	0.004
18	32823264	A	T	18	35243300	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A563T:p.E188V;ENSG00000186812:ENST00000585800:exon3:c.A563T:p.E188V;	0.00259244648913389	0.04
18	32823265	A	C	18	35243301	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A564C:p.E188D;ENSG00000186812:ENST00000585800:exon3:c.A564C:p.E188D;	4.81104073624731E-4	0.004
18	32823265	A	G	18	35243301	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	synonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A564G:p.E188E;ENSG00000186812:ENST00000585800:exon3:c.A564G:p.E188E;	4.74041315931876E-4	0.004
18	32823265	A	T	18	35243301	y	n	intronic	ZNF397	.	.	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000591206:exon3:c.A564T:p.E188D;ENSG00000186812:ENST00000585800:exon3:c.A564T:p.E188D;	4.93962948185526E-4	0.008
18	32825214	T	A	18	35245250	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00462024712266229	0.372
18	32825214	T	C	18	35245250	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.7388491234116E-5	0.0
18	32825214	T	G	18	35245250	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00851439408647565	0.37
18	32825215	T	A	18	35245251	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.934830046122197	0.574
18	32825215	T	C	18	35245251	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00330473454846326	0.178
18	32825215	T	G	18	35245251	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.511690421177693	0.474
18	32825216	A	C	18	35245252	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.18374705958675E-4	0.004
18	32825216	A	G	18	35245252	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.02058771073258E-4	0.002
18	32825216	A	T	18	35245252	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	1.70498701214604E-4	0.016
18	32825217	T	A	18	35245253	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.018987677533121	0.226
18	32825217	T	C	18	35245253	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	5.40535934722172E-5	0.034
18	32825217	T	G	18	35245253	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.99984545021033	0.986
18	32825218	T	A	18	35245254	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.999936304296539	0.988
18	32825218	T	C	18	35245254	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	6.84878250964694E-5	0.0
18	32825218	T	G	18	35245254	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00196687112512835	0.104
18	32825219	G	A	18	35245255	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.42970265257975E-4	0.008
18	32825219	G	C	18	35245255	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.31503157799977E-4	0.004
18	32825219	G	T	18	35245255	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	2.63770920074875E-4	0.002
18	32825220	T	A	18	35245256	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.878956208638099	0.508
18	32825220	T	C	18	35245256	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00199247604393079	0.108
18	32825220	T	G	18	35245256	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.937359781334584	0.56
18	32825221	T	A	18	35245257	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.960587497423046	0.634
18	32825221	T	C	18	35245257	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.0228279704687762	0.14
18	32825221	T	G	18	35245257	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.933802584103753	0.612
18	32825222	T	A	18	35245258	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00199680869482043	0.036
18	32825222	T	C	18	35245258	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	8.99480991656719E-4	0.02
18	32825222	T	G	18	35245258	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.00542434987586055	0.062
18	32825223	C	A	18	35245259	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.974237728054428	0.78
18	32825223	C	G	18	35245259	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.999651656316664	0.95
18	32825223	C	T	18	35245259	y	y	intronic	ZNF397	.	.	intronic	ENSG00000186812	.	.	0.0169420246346562	0.334
18	32825224	A	C	18	35245260	y	y	splicing	ZNF397(NM_001135178:exon4:c.557-2A>C;NM_032347:exon4:c.557-2A>C)	.	.	splicing	ENSG00000186812(ENST00000330501:exon4:c.557-2A>C;ENST00000261333:exon4:c.557-2A>C)	.	.	0.99998382861657	0.854
18	32825224	A	G	18	35245260	y	y	splicing	ZNF397(NM_001135178:exon4:c.557-2A>G;NM_032347:exon4:c.557-2A>G)	.	.	splicing	ENSG00000186812(ENST00000330501:exon4:c.557-2A>G;ENST00000261333:exon4:c.557-2A>G)	.	.	0.99998382861657	0.844
18	32825224	A	T	18	35245260	y	y	splicing	ZNF397(NM_001135178:exon4:c.557-2A>T;NM_032347:exon4:c.557-2A>T)	.	.	splicing	ENSG00000186812(ENST00000330501:exon4:c.557-2A>T;ENST00000261333:exon4:c.557-2A>T)	.	.	0.999985353572514	0.872
18	32825225	G	A	18	35245261	y	y	splicing	ZNF397(NM_001135178:exon4:c.557-1G>A;NM_032347:exon4:c.557-1G>A)	.	.	splicing	ENSG00000186812(ENST00000330501:exon4:c.557-1G>A;ENST00000261333:exon4:c.557-1G>A)	.	.	0.999990611969007	0.894
18	32825225	G	C	18	35245261	y	y	splicing	ZNF397(NM_001135178:exon4:c.557-1G>C;NM_032347:exon4:c.557-1G>C)	.	.	splicing	ENSG00000186812(ENST00000330501:exon4:c.557-1G>C;ENST00000261333:exon4:c.557-1G>C)	.	.	0.999990611969007	0.882
18	32825225	G	T	18	35245261	y	y	splicing	ZNF397(NM_001135178:exon4:c.557-1G>T;NM_032347:exon4:c.557-1G>T)	.	.	splicing	ENSG00000186812(ENST00000330501:exon4:c.557-1G>T;ENST00000261333:exon4:c.557-1G>T)	.	.	0.999990611969007	0.89
18	32825226	A	C	18	35245262	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon4:c.A557C:p.D186A;ZNF397:NM_001135178:exon4:c.A557C:p.D186A;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000261333:exon4:c.A557C:p.D186A;ENSG00000186812:ENST00000330501:exon4:c.A557C:p.D186A;	0.00108172335972687	0.118
18	32825226	A	G	18	35245262	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon4:c.A557G:p.D186G;ZNF397:NM_001135178:exon4:c.A557G:p.D186G;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000261333:exon4:c.A557G:p.D186G;ENSG00000186812:ENST00000330501:exon4:c.A557G:p.D186G;	3.28246183263271E-5	0.002
18	32825226	A	T	18	35245262	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon4:c.A557T:p.D186V;ZNF397:NM_001135178:exon4:c.A557T:p.D186V;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000261333:exon4:c.A557T:p.D186V;ENSG00000186812:ENST00000330501:exon4:c.A557T:p.D186V;	0.00223028289845524	0.166
18	32825227	T	A	18	35245263	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon4:c.T558A:p.D186E;ZNF397:NM_001135178:exon4:c.T558A:p.D186E;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000261333:exon4:c.T558A:p.D186E;ENSG00000186812:ENST00000330501:exon4:c.T558A:p.D186E;	4.67407324111286E-4	0.038
18	32825227	T	C	18	35245263	y	y	exonic	ZNF397	synonymous SNV	ZNF397:NM_032347:exon4:c.T558C:p.D186D;ZNF397:NM_001135178:exon4:c.T558C:p.D186D;	exonic	ENSG00000186812	synonymous SNV	ENSG00000186812:ENST00000261333:exon4:c.T558C:p.D186D;ENSG00000186812:ENST00000330501:exon4:c.T558C:p.D186D;	0.0011861953611591	0.142
18	32825227	T	G	18	35245263	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon4:c.T558G:p.D186E;ZNF397:NM_001135178:exon4:c.T558G:p.D186E;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000261333:exon4:c.T558G:p.D186E;ENSG00000186812:ENST00000330501:exon4:c.T558G:p.D186E;	0.00517121447991882	0.034
18	32834364	A	C	18	35254400	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon5:c.A815C:p.K272T;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.A725C:p.K242T;ENSG00000186812:ENST00000261333:exon5:c.A815C:p.K272T;	7.67881388299718E-5	0.008
18	32834364	A	G	18	35254400	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon5:c.A815G:p.K272R;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.A725G:p.K242R;ENSG00000186812:ENST00000261333:exon5:c.A815G:p.K272R;	1.70320569360741E-4	0.008
18	32834364	A	T	18	35254400	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon5:c.A815T:p.K272M;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.A725T:p.K242M;ENSG00000186812:ENST00000261333:exon5:c.A815T:p.K272M;	3.94360406267401E-4	0.01
18	32834365	G	A	18	35254401	y	y	exonic	ZNF397	synonymous SNV	ZNF397:NM_032347:exon5:c.G816A:p.K272K;	exonic	ENSG00000186812	synonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.G726A:p.K242K;ENSG00000186812:ENST00000261333:exon5:c.G816A:p.K272K;	2.49412917599232E-5	0.004
18	32834365	G	C	18	35254401	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon5:c.G816C:p.K272N;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.G726C:p.K242N;ENSG00000186812:ENST00000261333:exon5:c.G816C:p.K272N;	1.11729349776244E-4	0.006
18	32834365	G	T	18	35254401	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon5:c.G816T:p.K272N;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.G726T:p.K242N;ENSG00000186812:ENST00000261333:exon5:c.G816T:p.K272N;	1.03465150322834E-4	0.008
18	32834366	T	A	18	35254402	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon5:c.T817A:p.Y273N;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.T727A:p.Y243N;ENSG00000186812:ENST00000261333:exon5:c.T817A:p.Y273N;	1.38603341338827E-4	0.004
18	32834366	T	C	18	35254402	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon5:c.T817C:p.Y273H;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.T727C:p.Y243H;ENSG00000186812:ENST00000261333:exon5:c.T817C:p.Y273H;	1.38603341338827E-4	0.002
18	32834366	T	G	18	35254402	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon5:c.T817G:p.Y273D;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon4:c.T727G:p.Y243D;ENSG00000186812:ENST00000261333:exon5:c.T817G:p.Y273D;	1.08068143624481E-4	0.0
18	32834367	G	A	18	35254403	y	y	splicing	ZNF397(NM_032347:exon5:c.817+1G>A)	.	.	splicing	ENSG00000186812(ENST00000355632:exon4:c.727+1G>A;ENST00000261333:exon5:c.817+1G>A)	.	.	7.52881759733747E-5	0.0
18	32834367	G	C	18	35254403	y	y	splicing	ZNF397(NM_032347:exon5:c.817+1G>C)	.	.	splicing	ENSG00000186812(ENST00000355632:exon4:c.727+1G>C;ENST00000261333:exon5:c.817+1G>C)	.	.	7.52881759733747E-5	0.006
18	32834367	G	T	18	35254403	y	y	splicing	ZNF397(NM_032347:exon5:c.817+1G>T)	.	.	splicing	ENSG00000186812(ENST00000355632:exon4:c.727+1G>T;ENST00000261333:exon5:c.817+1G>T)	.	.	7.52881759733747E-5	0.0
18	32834368	T	A	18	35254404	y	y	splicing	ZNF397(NM_032347:exon5:c.817+2T>A)	.	.	splicing	ENSG00000186812(ENST00000355632:exon4:c.727+2T>A;ENST00000261333:exon5:c.817+2T>A)	.	.	6.89925739660516E-5	0.004
18	32834368	T	C	18	35254404	y	y	splicing	ZNF397(NM_032347:exon5:c.817+2T>C)	.	.	splicing	ENSG00000186812(ENST00000355632:exon4:c.727+2T>C;ENST00000261333:exon5:c.817+2T>C)	.	.	3.31929338280547E-5	0.004
18	32834368	T	G	18	35254404	y	y	splicing	ZNF397(NM_032347:exon5:c.817+2T>G)	.	.	splicing	ENSG00000186812(ENST00000355632:exon4:c.727+2T>G;ENST00000261333:exon5:c.817+2T>G)	.	.	3.31929338280547E-5	0.004
18	32834369	A	C	18	35254405	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	1.46958351375406E-5	0.0
18	32834369	A	G	18	35254405	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	1.46958351375406E-5	0.0
18	32834369	A	T	18	35254405	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	6.36340088948343E-5	0.0
18	32834370	A	C	18	35254406	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.78205327723092E-5	0.004
18	32834370	A	G	18	35254406	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.78205327723092E-5	0.004
18	32834370	A	T	18	35254406	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.78205327723092E-5	0.03
18	32834371	G	A	18	35254407	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.20862408805592E-5	0.16
18	32834371	G	C	18	35254407	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.20862408805592E-5	0.034
18	32834371	G	T	18	35254407	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.20862408805592E-5	0.038
18	32834372	T	A	18	35254408	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	5.51166692036535E-4	0.016
18	32834372	T	C	18	35254408	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	9.88268727426181E-4	0.016
18	32834372	T	G	18	35254408	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	9.88268727426181E-4	0.016
18	32834373	A	C	18	35254409	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.78205327723092E-5	0.004
18	32834373	A	G	18	35254409	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.78205327723092E-5	0.004
18	32834373	A	T	18	35254409	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.78205327723092E-5	0.006
18	32834374	T	A	18	35254410	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.59209916280968E-5	0.028
18	32834374	T	C	18	35254410	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.59209916280968E-5	0.004
18	32834374	T	G	18	35254410	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.59209916280968E-5	0.004
18	32837880	T	A	18	35257916	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.93008933363103E-5	0.0
18	32837880	T	C	18	35257916	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.93008933363103E-5	0.0
18	32837880	T	G	18	35257916	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.93008933363103E-5	0.0
18	32837881	C	A	18	35257917	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	0.00102211620560074	0.008
18	32837881	C	G	18	35257917	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	5.51166692036535E-4	0.008
18	32837881	C	T	18	35257917	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	0.00102211620560074	0.008
18	32837882	T	A	18	35257918	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	0.00160442271623211	0.004
18	32837882	T	C	18	35257918	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	7.74276875048101E-4	0.004
18	32837882	T	G	18	35257918	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	7.74276875048101E-4	0.004
18	32837883	C	A	18	35257919	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.3994564522384E-5	0.016
18	32837883	C	G	18	35257919	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.3994564522384E-5	0.022
18	32837883	C	T	18	35257919	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.3994564522384E-5	0.016
18	32837884	C	A	18	35257920	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	1.20590404879984E-5	0.0
18	32837884	C	G	18	35257920	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	1.20590404879984E-5	0.0
18	32837884	C	T	18	35257920	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	1.20590404879984E-5	0.0
18	32837885	A	C	18	35257921	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	7.58542435370787E-4	0.006
18	32837885	A	G	18	35257921	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	7.58542435370787E-4	0.006
18	32837885	A	T	18	35257921	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	7.58542435370787E-4	0.006
18	32837886	T	A	18	35257922	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.08739841361144E-4	0.004
18	32837886	T	C	18	35257922	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	1.69884688945688E-4	0.008
18	32837886	T	G	18	35257922	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	1.69884688945688E-4	0.008
18	32837887	T	A	18	35257923	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.63360899965148E-5	0.004
18	32837887	T	C	18	35257923	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.63360899965148E-5	0.0
18	32837887	T	G	18	35257923	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	2.63360899965148E-5	0.0
18	32837888	A	C	18	35257924	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	7.58542435370787E-4	0.006
18	32837888	A	G	18	35257924	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	7.58542435370787E-4	0.006
18	32837888	A	T	18	35257924	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	7.74276875048101E-4	0.004
18	32837889	C	A	18	35257925	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.73406751144135E-5	0.002
18	32837889	C	G	18	35257925	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.73406751144135E-5	0.012
18	32837889	C	T	18	35257925	y	y	intronic	ZNF397;ZSCAN30	.	.	intronic	ENSG00000186812;ENSG00000186814	.	.	3.73406751144135E-5	0.002
18	32837890	A	C	18	35257926	y	y	splicing	ZNF397(NM_032347:exon6:c.818-2A>C)	.	.	splicing	ENSG00000186812(ENST00000355632:exon5:c.728-2A>C;ENST00000261333:exon6:c.818-2A>C;ENST00000592264:exon3:c.557-2A>C)	.	.	0.00274158875105077	0.01
18	32837890	A	G	18	35257926	y	y	splicing	ZNF397(NM_032347:exon6:c.818-2A>G)	.	.	splicing	ENSG00000186812(ENST00000355632:exon5:c.728-2A>G;ENST00000261333:exon6:c.818-2A>G;ENST00000592264:exon3:c.557-2A>G)	.	.	0.00274158875105077	0.01
18	32837890	A	T	18	35257926	y	y	splicing	ZNF397(NM_032347:exon6:c.818-2A>T)	.	.	splicing	ENSG00000186812(ENST00000355632:exon5:c.728-2A>T;ENST00000261333:exon6:c.818-2A>T;ENST00000592264:exon3:c.557-2A>T)	.	.	0.00262912105236813	0.014
18	32837891	G	A	18	35257927	y	y	splicing	ZNF397(NM_032347:exon6:c.818-1G>A)	.	.	splicing	ENSG00000186812(ENST00000355632:exon5:c.728-1G>A;ENST00000261333:exon6:c.818-1G>A;ENST00000592264:exon3:c.557-1G>A)	.	.	0.00267205389289002	0.014
18	32837891	G	C	18	35257927	y	y	splicing	ZNF397(NM_032347:exon6:c.818-1G>C)	.	.	splicing	ENSG00000186812(ENST00000355632:exon5:c.728-1G>C;ENST00000261333:exon6:c.818-1G>C;ENST00000592264:exon3:c.557-1G>C)	.	.	0.00225473075344595	0.012
18	32837891	G	T	18	35257927	y	y	splicing	ZNF397(NM_032347:exon6:c.818-1G>T)	.	.	splicing	ENSG00000186812(ENST00000355632:exon5:c.728-1G>T;ENST00000261333:exon6:c.818-1G>T;ENST00000592264:exon3:c.557-1G>T)	.	.	0.00267205389289002	0.014
18	32837892	A	C	18	35257928	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon6:c.A818C:p.Y273S;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon5:c.A728C:p.Y243S;ENSG00000186812:ENST00000261333:exon6:c.A818C:p.Y273S;ENSG00000186812:ENST00000592264:exon3:c.A557C:p.D186A;	9.26351819982407E-5	0.0
18	32837892	A	G	18	35257928	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon6:c.A818G:p.Y273C;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon5:c.A728G:p.Y243C;ENSG00000186812:ENST00000261333:exon6:c.A818G:p.Y273C;ENSG00000186812:ENST00000592264:exon3:c.A557G:p.D186G;	9.26351819982407E-5	0.002
18	32837892	A	T	18	35257928	y	y	exonic	ZNF397	nonsynonymous SNV	ZNF397:NM_032347:exon6:c.A818T:p.Y273F;	exonic	ENSG00000186812	nonsynonymous SNV	ENSG00000186812:ENST00000355632:exon5:c.A728T:p.Y243F;ENSG00000186812:ENST00000261333:exon6:c.A818T:p.Y273F;ENSG00000186812:ENST00000592264:exon3:c.A557T:p.D186V;	1.40583297660189E-4	0.068
18	32837893	T	A	18	35257929	y	y	exonic	ZNF397	stopgain SNV	ZNF397:NM_032347:exon6:c.T819A:p.Y273X;	exonic	ENSG00000186812	stopgain SNV	ENSG00000186812:ENST00000355632:exon5:c.T729A:p.Y243X;ENSG00000186812:ENST00000261333:exon6:c.T819A:p.Y273X;	2.94718607375682E-4	0.056
18	32837893	T	C	18	35257929	y	y	exonic	ZNF397	synonymous SNV	ZNF397:NM_032347:exon6:c.T819C:p.Y273Y;	exonic	ENSG00000186812	synonymous SNV	ENSG00000186812:ENST00000355632:exon5:c.T729C:p.Y243Y;ENSG00000186812:ENST00000261333:exon6:c.T819C:p.Y273Y;ENSG00000186812:ENST00000592264:exon3:c.T558C:p.D186D;	1.58927937202005E-5	0.0
18	32837893	T	G	18	35257929	y	y	exonic	ZNF397	stopgain SNV	ZNF397:NM_032347:exon6:c.T819G:p.Y273X;	exonic	ENSG00000186812	stopgain SNV	ENSG00000186812:ENST00000355632:exon5:c.T729G:p.Y243X;ENSG00000186812:ENST00000261333:exon6:c.T819G:p.Y273X;	2.12814053371139E-4	0.004
18	32843203	A	C	18	35263239	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000589178:exon4:c.T555G:p.D185E;ENSG00000186814:ENST00000383091:exon5:c.T555G:p.D185E;	3.63055045914417E-5	0.002
18	32843203	A	G	18	35263239	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	synonymous SNV	ENSG00000186814:ENST00000589178:exon4:c.T555C:p.D185D;ENSG00000186814:ENST00000383091:exon5:c.T555C:p.D185D;	2.24360011717064E-5	0.002
18	32843203	A	T	18	35263239	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000589178:exon4:c.T555A:p.D185E;ENSG00000186814:ENST00000383091:exon5:c.T555A:p.D185E;	3.63055045914417E-5	0.002
18	32843204	T	A	18	35263240	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000589178:exon4:c.A554T:p.D185V;ENSG00000186814:ENST00000383091:exon5:c.A554T:p.D185V;	6.23841440294259E-5	0.002
18	32843204	T	C	18	35263240	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000589178:exon4:c.A554G:p.D185G;ENSG00000186814:ENST00000383091:exon5:c.A554G:p.D185G;	4.3235832240333E-5	0.002
18	32843204	T	G	18	35263240	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000589178:exon4:c.A554C:p.D185A;ENSG00000186814:ENST00000383091:exon5:c.A554C:p.D185A;	6.59869935472987E-5	0.002
18	32843205	C	A	18	35263241	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000589178:exon5:c.554-1G>T;ENST00000383091:exon6:c.554-1G>T)	.	.	7.60815764102212E-5	0.006
18	32843205	C	G	18	35263241	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000589178:exon5:c.554-1G>C;ENST00000383091:exon6:c.554-1G>C)	.	.	7.60815764102212E-5	0.006
18	32843205	C	T	18	35263241	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000589178:exon5:c.554-1G>A;ENST00000383091:exon6:c.554-1G>A)	.	.	7.60815764102212E-5	0.006
18	32843206	T	A	18	35263242	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000589178:exon5:c.554-2A>T;ENST00000383091:exon6:c.554-2A>T)	.	.	2.04531790384734E-5	0.002
18	32843206	T	C	18	35263242	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000589178:exon5:c.554-2A>G;ENST00000383091:exon6:c.554-2A>G)	.	.	1.89552819446206E-5	0.002
18	32843206	T	G	18	35263242	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000589178:exon5:c.554-2A>C;ENST00000383091:exon6:c.554-2A>C)	.	.	1.89552819446206E-5	0.002
18	32843207	A	C	18	35263243	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.35379928190213E-5	0.006
18	32843207	A	G	18	35263243	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.35379928190213E-5	0.004
18	32843207	A	T	18	35263243	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.42005417025298E-5	0.002
18	32843208	A	C	18	35263244	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.03
18	32843208	A	G	18	35263244	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.03
18	32843208	A	T	18	35263244	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.028
18	32843209	A	C	18	35263245	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.03
18	32843209	A	G	18	35263245	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.03
18	32843209	A	T	18	35263245	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.028
18	32843210	A	C	18	35263246	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.03
18	32843210	A	G	18	35263246	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.03
18	32843210	A	T	18	35263246	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.37814120173621E-5	0.034
18	32843211	A	C	18	35263247	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.2694790039333E-6	0.002
18	32843211	A	G	18	35263247	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.2694790039333E-6	0.002
18	32843211	A	T	18	35263247	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.2694790039333E-6	0.002
18	32843212	A	C	18	35263248	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.99153316237132E-5	0.0
18	32843212	A	G	18	35263248	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.99153316237132E-5	0.0
18	32843212	A	T	18	35263248	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.99153316237132E-5	0.0
18	32843213	A	C	18	35263249	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843213	A	G	18	35263249	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843213	A	T	18	35263249	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843214	A	C	18	35263250	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843214	A	G	18	35263250	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843214	A	T	18	35263250	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843215	A	C	18	35263251	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843215	A	G	18	35263251	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843215	A	T	18	35263251	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.7625743089426E-5	0.028
18	32843216	A	C	18	35263252	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.2694790039333E-6	0.002
18	32843216	A	G	18	35263252	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.2694790039333E-6	0.002
18	32843216	A	T	18	35263252	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.12288223045236E-5	0.002
18	32843469	C	A	18	35263505	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G255T:p.K85N;	3.79749735172323E-5	0.0
18	32843469	C	G	18	35263505	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G255C:p.K85N;	7.50790637909342E-5	0.0
18	32843469	C	T	18	35263505	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	synonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G255A:p.K85K;	3.53667826110253E-5	0.0
18	32843470	T	A	18	35263506	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.A254T:p.K85M;	0.00109579080503601	0.044
18	32843470	T	C	18	35263506	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.A254G:p.K85R;	3.41970322801904E-4	0.034
18	32843470	T	G	18	35263506	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.A254C:p.K85T;	4.43636831410078E-4	0.016
18	32843471	T	A	18	35263507	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	stopgain SNV	ENSG00000186814:ENST00000588448:exon2:c.A253T:p.K85X;	8.00439850376463E-5	0.036
18	32843471	T	C	18	35263507	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.A253G:p.K85E;	3.62080460249659E-5	0.034
18	32843471	T	G	18	35263507	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.A253C:p.K85Q;	3.02827485318925E-4	0.098
18	32843472	C	A	18	35263508	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G252T:p.E84D;	0.994922401462544	0.884
18	32843472	C	G	18	35263508	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G252C:p.E84D;	0.992667466150625	0.69
18	32843472	C	T	18	35263508	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	synonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G252A:p.E84E;	0.997907937899081	0.922
18	32843473	T	A	18	35263509	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.A251T:p.E84V;	0.993645768810901	0.53
18	32843473	T	C	18	35263509	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.A251G:p.E84G;	0.994756968882682	0.682
18	32843473	T	G	18	35263509	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.A251C:p.E84A;	0.993064616031124	0.744
18	32843474	C	A	18	35263510	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	stopgain SNV	ENSG00000186814:ENST00000588448:exon2:c.G250T:p.E84X;	0.740735151106496	0.492
18	32843474	C	G	18	35263510	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G250C:p.E84Q;	0.435039808689159	0.402
18	32843474	C	T	18	35263510	y	n	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G250A:p.E84K;	3.03560171258813E-4	0.028
18	32843475	A	C	18	35263511	y	n	splicing	ZSCAN30(NM_001166012:exon5:c.553+2T>G;NM_001112734:exon4:c.553+2T>G)	.	.	exonic;splicing	ENSG00000186814;ENSG00000186814(ENST00000420878:exon5:c.553+2T>G;ENST00000333206:exon4:c.553+2T>G;ENST00000589178:exon4:c.553+2T>G;ENST00000383091:exon5:c.553+2T>G)	synonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.T249G:p.G83G;	0.999960807249974	0.938
18	32843475	A	G	18	35263511	y	n	splicing	ZSCAN30(NM_001166012:exon5:c.553+2T>C;NM_001112734:exon4:c.553+2T>C)	.	.	exonic;splicing	ENSG00000186814;ENSG00000186814(ENST00000420878:exon5:c.553+2T>C;ENST00000333206:exon4:c.553+2T>C;ENST00000589178:exon4:c.553+2T>C;ENST00000383091:exon5:c.553+2T>C)	synonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.T249C:p.G83G;	0.999877348108008	0.922
18	32843475	A	T	18	35263511	y	n	splicing	ZSCAN30(NM_001166012:exon5:c.553+2T>A;NM_001112734:exon4:c.553+2T>A)	.	.	exonic;splicing	ENSG00000186814;ENSG00000186814(ENST00000420878:exon5:c.553+2T>A;ENST00000333206:exon4:c.553+2T>A;ENST00000589178:exon4:c.553+2T>A;ENST00000383091:exon5:c.553+2T>A)	synonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.T249A:p.G83G;	0.999960807249974	0.932
18	32843476	C	A	18	35263512	y	n	splicing	ZSCAN30(NM_001166012:exon5:c.553+1G>T;NM_001112734:exon4:c.553+1G>T)	.	.	exonic;splicing	ENSG00000186814;ENSG00000186814(ENST00000420878:exon5:c.553+1G>T;ENST00000333206:exon4:c.553+1G>T;ENST00000589178:exon4:c.553+1G>T;ENST00000383091:exon5:c.553+1G>T)	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G248T:p.G83V;	0.999939020951004	0.932
18	32843476	C	G	18	35263512	y	n	splicing	ZSCAN30(NM_001166012:exon5:c.553+1G>C;NM_001112734:exon4:c.553+1G>C)	.	.	exonic;splicing	ENSG00000186814;ENSG00000186814(ENST00000420878:exon5:c.553+1G>C;ENST00000333206:exon4:c.553+1G>C;ENST00000589178:exon4:c.553+1G>C;ENST00000383091:exon5:c.553+1G>C)	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G248C:p.G83A;	0.999939020951004	0.936
18	32843476	C	T	18	35263512	y	n	splicing	ZSCAN30(NM_001166012:exon5:c.553+1G>A;NM_001112734:exon4:c.553+1G>A)	.	.	exonic;splicing	ENSG00000186814;ENSG00000186814(ENST00000420878:exon5:c.553+1G>A;ENST00000333206:exon4:c.553+1G>A;ENST00000589178:exon4:c.553+1G>A;ENST00000383091:exon5:c.553+1G>A)	nonsynonymous SNV	ENSG00000186814:ENST00000588448:exon2:c.G248A:p.G83D;	0.999939020951004	0.932
18	32843477	C	A	18	35263513	y	n	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G553T:p.D185Y;ZSCAN30:NM_001112734:exon3:c.G553T:p.D185Y;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G553T:p.D185Y;ENSG00000186814:ENST00000588448:exon2:c.G247T:p.G83C;ENSG00000186814:ENST00000589178:exon3:c.G553T:p.D185Y;ENSG00000186814:ENST00000383091:exon4:c.G553T:p.D185Y;ENSG00000186814:ENST00000333206:exon3:c.G553T:p.D185Y;	0.999928318013835	0.948
18	32843477	C	G	18	35263513	y	n	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G553C:p.D185H;ZSCAN30:NM_001112734:exon3:c.G553C:p.D185H;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G553C:p.D185H;ENSG00000186814:ENST00000588448:exon2:c.G247C:p.G83R;ENSG00000186814:ENST00000589178:exon3:c.G553C:p.D185H;ENSG00000186814:ENST00000383091:exon4:c.G553C:p.D185H;ENSG00000186814:ENST00000333206:exon3:c.G553C:p.D185H;	0.999991599711104	0.994
18	32843477	C	T	18	35263513	y	n	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G553A:p.D185N;ZSCAN30:NM_001112734:exon3:c.G553A:p.D185N;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G553A:p.D185N;ENSG00000186814:ENST00000588448:exon2:c.G247A:p.G83S;ENSG00000186814:ENST00000589178:exon3:c.G553A:p.D185N;ENSG00000186814:ENST00000383091:exon4:c.G553A:p.D185N;ENSG00000186814:ENST00000333206:exon3:c.G553A:p.D185N;	0.999458410132175	1.0
18	32843478	T	A	18	35263514	y	n	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.A552T:p.R184S;ZSCAN30:NM_001112734:exon3:c.A552T:p.R184S;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.A552T:p.R184S;ENSG00000186814:ENST00000588448:exon2:c.A246T:p.R82S;ENSG00000186814:ENST00000589178:exon3:c.A552T:p.R184S;ENSG00000186814:ENST00000383091:exon4:c.A552T:p.R184S;ENSG00000186814:ENST00000333206:exon3:c.A552T:p.R184S;	0.93669678071854	0.622
18	32843478	T	C	18	35263514	y	n	exonic	ZSCAN30	synonymous SNV	ZSCAN30:NM_001166012:exon4:c.A552G:p.R184R;ZSCAN30:NM_001112734:exon3:c.A552G:p.R184R;	exonic	ENSG00000186814	synonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.A552G:p.R184R;ENSG00000186814:ENST00000588448:exon2:c.A246G:p.R82R;ENSG00000186814:ENST00000589178:exon3:c.A552G:p.R184R;ENSG00000186814:ENST00000383091:exon4:c.A552G:p.R184R;ENSG00000186814:ENST00000333206:exon3:c.A552G:p.R184R;	0.998491381238107	0.748
18	32843478	T	G	18	35263514	y	n	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.A552C:p.R184S;ZSCAN30:NM_001112734:exon3:c.A552C:p.R184S;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.A552C:p.R184S;ENSG00000186814:ENST00000588448:exon2:c.A246C:p.R82S;ENSG00000186814:ENST00000589178:exon3:c.A552C:p.R184S;ENSG00000186814:ENST00000383091:exon4:c.A552C:p.R184S;ENSG00000186814:ENST00000333206:exon3:c.A552C:p.R184S;	0.370488086403894	0.54
18	32843479	C	A	18	35263515	y	n	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G551T:p.R184I;ZSCAN30:NM_001112734:exon3:c.G551T:p.R184I;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G551T:p.R184I;ENSG00000186814:ENST00000588448:exon2:c.G245T:p.R82I;ENSG00000186814:ENST00000589178:exon3:c.G551T:p.R184I;ENSG00000186814:ENST00000383091:exon4:c.G551T:p.R184I;ENSG00000186814:ENST00000333206:exon3:c.G551T:p.R184I;	8.09606501889485E-5	0.006
18	32843479	C	G	18	35263515	y	n	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G551C:p.R184T;ZSCAN30:NM_001112734:exon3:c.G551C:p.R184T;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G551C:p.R184T;ENSG00000186814:ENST00000588448:exon2:c.G245C:p.R82T;ENSG00000186814:ENST00000589178:exon3:c.G551C:p.R184T;ENSG00000186814:ENST00000383091:exon4:c.G551C:p.R184T;ENSG00000186814:ENST00000333206:exon3:c.G551C:p.R184T;	1.34284278289794E-5	0.0
18	32843479	C	T	18	35263515	y	n	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G551A:p.R184K;ZSCAN30:NM_001112734:exon3:c.G551A:p.R184K;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G551A:p.R184K;ENSG00000186814:ENST00000588448:exon2:c.G245A:p.R82K;ENSG00000186814:ENST00000589178:exon3:c.G551A:p.R184K;ENSG00000186814:ENST00000383091:exon4:c.G551A:p.R184K;ENSG00000186814:ENST00000333206:exon3:c.G551A:p.R184K;	1.34284278289794E-5	0.0
18	32843620	T	A	18	35263656	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.A410T:p.D137V;ZSCAN30:NM_001112734:exon3:c.A410T:p.D137V;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.A410T:p.D137V;ENSG00000186814:ENST00000588448:exon2:c.A104T:p.D35V;ENSG00000186814:ENST00000589178:exon3:c.A410T:p.D137V;ENSG00000186814:ENST00000383091:exon4:c.A410T:p.D137V;ENSG00000186814:ENST00000333206:exon3:c.A410T:p.D137V;	1.52305841230355E-5	0.002
18	32843620	T	C	18	35263656	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.A410G:p.D137G;ZSCAN30:NM_001112734:exon3:c.A410G:p.D137G;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.A410G:p.D137G;ENSG00000186814:ENST00000588448:exon2:c.A104G:p.D35G;ENSG00000186814:ENST00000589178:exon3:c.A410G:p.D137G;ENSG00000186814:ENST00000383091:exon4:c.A410G:p.D137G;ENSG00000186814:ENST00000333206:exon3:c.A410G:p.D137G;	4.1108874970661E-5	0.014
18	32843620	T	G	18	35263656	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.A410C:p.D137A;ZSCAN30:NM_001112734:exon3:c.A410C:p.D137A;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.A410C:p.D137A;ENSG00000186814:ENST00000588448:exon2:c.A104C:p.D35A;ENSG00000186814:ENST00000589178:exon3:c.A410C:p.D137A;ENSG00000186814:ENST00000383091:exon4:c.A410C:p.D137A;ENSG00000186814:ENST00000333206:exon3:c.A410C:p.D137A;	5.07826668859078E-5	0.074
18	32843621	C	A	18	35263657	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G409T:p.D137Y;ZSCAN30:NM_001112734:exon3:c.G409T:p.D137Y;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G409T:p.D137Y;ENSG00000186814:ENST00000588448:exon2:c.G103T:p.D35Y;ENSG00000186814:ENST00000589178:exon3:c.G409T:p.D137Y;ENSG00000186814:ENST00000383091:exon4:c.G409T:p.D137Y;ENSG00000186814:ENST00000333206:exon3:c.G409T:p.D137Y;	0.979075247470985	0.752
18	32843621	C	G	18	35263657	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G409C:p.D137H;ZSCAN30:NM_001112734:exon3:c.G409C:p.D137H;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G409C:p.D137H;ENSG00000186814:ENST00000588448:exon2:c.G103C:p.D35H;ENSG00000186814:ENST00000589178:exon3:c.G409C:p.D137H;ENSG00000186814:ENST00000383091:exon4:c.G409C:p.D137H;ENSG00000186814:ENST00000333206:exon3:c.G409C:p.D137H;	0.908341395003534	0.672
18	32843621	C	T	18	35263657	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon4:c.G409A:p.D137N;ZSCAN30:NM_001112734:exon3:c.G409A:p.D137N;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon4:c.G409A:p.D137N;ENSG00000186814:ENST00000588448:exon2:c.G103A:p.D35N;ENSG00000186814:ENST00000589178:exon3:c.G409A:p.D137N;ENSG00000186814:ENST00000383091:exon4:c.G409A:p.D137N;ENSG00000186814:ENST00000333206:exon3:c.G409A:p.D137N;	0.0165525779300962	0.346
18	32843622	C	A	18	35263658	y	y	splicing	ZSCAN30(NM_001166012:exon5:c.409-1G>T;NM_001112734:exon4:c.409-1G>T)	.	.	splicing	ENSG00000186814(ENST00000420878:exon5:c.409-1G>T;ENST00000333206:exon4:c.409-1G>T;ENST00000589178:exon4:c.409-1G>T;ENST00000383091:exon5:c.409-1G>T;ENST00000588448:exon3:c.103-1G>T)	.	.	0.999937877140512	0.742
18	32843622	C	G	18	35263658	y	y	splicing	ZSCAN30(NM_001166012:exon5:c.409-1G>C;NM_001112734:exon4:c.409-1G>C)	.	.	splicing	ENSG00000186814(ENST00000420878:exon5:c.409-1G>C;ENST00000333206:exon4:c.409-1G>C;ENST00000589178:exon4:c.409-1G>C;ENST00000383091:exon5:c.409-1G>C;ENST00000588448:exon3:c.103-1G>C)	.	.	0.999937877140512	0.742
18	32843622	C	T	18	35263658	y	y	splicing	ZSCAN30(NM_001166012:exon5:c.409-1G>A;NM_001112734:exon4:c.409-1G>A)	.	.	splicing	ENSG00000186814(ENST00000420878:exon5:c.409-1G>A;ENST00000333206:exon4:c.409-1G>A;ENST00000589178:exon4:c.409-1G>A;ENST00000383091:exon5:c.409-1G>A;ENST00000588448:exon3:c.103-1G>A)	.	.	0.999937877140512	0.742
18	32843623	T	A	18	35263659	y	y	splicing	ZSCAN30(NM_001166012:exon5:c.409-2A>T;NM_001112734:exon4:c.409-2A>T)	.	.	splicing	ENSG00000186814(ENST00000420878:exon5:c.409-2A>T;ENST00000333206:exon4:c.409-2A>T;ENST00000589178:exon4:c.409-2A>T;ENST00000383091:exon5:c.409-2A>T;ENST00000588448:exon3:c.103-2A>T)	.	.	0.999989378869813	0.75
18	32843623	T	C	18	35263659	y	y	splicing	ZSCAN30(NM_001166012:exon5:c.409-2A>G;NM_001112734:exon4:c.409-2A>G)	.	.	splicing	ENSG00000186814(ENST00000420878:exon5:c.409-2A>G;ENST00000333206:exon4:c.409-2A>G;ENST00000589178:exon4:c.409-2A>G;ENST00000383091:exon5:c.409-2A>G;ENST00000588448:exon3:c.103-2A>G)	.	.	0.999989378869813	0.752
18	32843623	T	G	18	35263659	y	y	splicing	ZSCAN30(NM_001166012:exon5:c.409-2A>C;NM_001112734:exon4:c.409-2A>C)	.	.	splicing	ENSG00000186814(ENST00000420878:exon5:c.409-2A>C;ENST00000333206:exon4:c.409-2A>C;ENST00000589178:exon4:c.409-2A>C;ENST00000383091:exon5:c.409-2A>C;ENST00000588448:exon3:c.103-2A>C)	.	.	0.999989378869813	0.75
18	32843624	A	C	18	35263660	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.988079082417615	0.718
18	32843624	A	G	18	35263660	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	1.13772208756991E-4	0.072
18	32843624	A	T	18	35263660	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.136571861989481	0.402
18	32843625	G	A	18	35263661	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	8.43815306947257E-6	0.0
18	32843625	G	C	18	35263661	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	6.42220710768759E-6	0.0
18	32843625	G	T	18	35263661	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	6.42220710768759E-6	0.004
18	32843626	G	A	18	35263662	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	8.35679617756044E-6	0.0
18	32843626	G	C	18	35263662	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	6.08905200488835E-4	0.068
18	32843626	G	T	18	35263662	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	3.4257561737461E-4	0.038
18	32843627	A	C	18	35263663	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.0952421710570493	0.432
18	32843627	A	G	18	35263663	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	1.95681196546788E-5	0.056
18	32843627	A	T	18	35263663	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.00574752895475585	0.19
18	32843628	G	A	18	35263664	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	3.17916500440182E-5	0.006
18	32843628	G	C	18	35263664	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.999888558387693	0.954
18	32843628	G	T	18	35263664	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.00617747942493446	0.124
18	32843629	T	A	18	35263665	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	1.65142774395936E-5	0.004
18	32843629	T	C	18	35263665	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	3.51597696029433E-5	0.004
18	32843629	T	G	18	35263665	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	1.65142774395936E-5	0.004
18	32843630	A	C	18	35263666	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.1633945909997	0.394
18	32843630	A	G	18	35263666	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.00233600963898225	0.08
18	32843630	A	T	18	35263666	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.120424971941436	0.434
18	32843631	A	C	18	35263667	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.99996607569147	0.956
18	32843631	A	G	18	35263667	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.00205282412102425	0.14
18	32843631	A	T	18	35263667	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	0.687081286583523	0.496
18	32843632	T	A	18	35263668	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	5.97391098975125E-5	0.156
18	32843632	T	C	18	35263668	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	1.51668889476848E-5	0.0
18	32843632	T	G	18	35263668	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	2.04907752581127E-5	0.004
18	32843633	C	A	18	35263669	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	2.72927267416608E-5	0.008
18	32843633	C	G	18	35263669	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	2.34687303176628E-5	0.002
18	32843633	C	T	18	35263669	y	y	intronic	ZSCAN30	.	.	UTR3	ENSG00000186814	.	.	8.58572014173573E-5	0.002
18	32843676	T	A	18	35263712	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000592278:exon3:c.A410T:p.E137V;	2.93008933363103E-5	0.0
18	32843676	T	C	18	35263712	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000592278:exon3:c.A410G:p.E137G;	2.82827935381688E-5	0.0
18	32843676	T	G	18	35263712	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000592278:exon3:c.A410C:p.E137A;	2.82827935381688E-5	0.0
18	32843677	C	A	18	35263713	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	stopgain SNV	ENSG00000186814:ENST00000592278:exon3:c.G409T:p.E137X;	9.37966511774992E-5	0.016
18	32843677	C	G	18	35263713	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000592278:exon3:c.G409C:p.E137Q;	9.37966511774992E-5	0.016
18	32843677	C	T	18	35263713	n	y	intronic	ZSCAN30	.	.	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000592278:exon3:c.G409A:p.E137K;	9.37966511774992E-5	0.016
18	32843678	C	A	18	35263714	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000592278:exon4:c.409-1G>T)	.	.	3.23670744562471E-4	0.0
18	32843678	C	G	18	35263714	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000592278:exon4:c.409-1G>C)	.	.	3.23670744562471E-4	0.0
18	32843678	C	T	18	35263714	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000592278:exon4:c.409-1G>A)	.	.	3.23670744562471E-4	0.0
18	32843679	T	A	18	35263715	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000592278:exon4:c.409-2A>T)	.	.	3.13536747317882E-5	0.006
18	32843679	T	C	18	35263715	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000592278:exon4:c.409-2A>G)	.	.	3.13536747317882E-5	0.004
18	32843679	T	G	18	35263715	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814(ENST00000592278:exon4:c.409-2A>C)	.	.	3.13536747317882E-5	0.004
18	32843680	A	C	18	35263716	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.26872967149703E-4	0.04
18	32843680	A	G	18	35263716	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.26872967149703E-4	0.04
18	32843680	A	T	18	35263716	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.45933605625061E-4	0.04
18	32843681	G	A	18	35263717	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.75289494538373E-5	0.004
18	32843681	G	C	18	35263717	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.52932449848953E-5	0.006
18	32843681	G	T	18	35263717	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.75289494538373E-5	0.004
18	32843682	A	C	18	35263718	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.59905258682134E-4	0.016
18	32843682	A	G	18	35263718	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.59905258682134E-4	0.016
18	32843682	A	T	18	35263718	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.65602961808381E-4	0.016
18	32843683	G	A	18	35263719	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.88014054966508E-5	0.0
18	32843683	G	C	18	35263719	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.88014054966508E-5	0.0
18	32843683	G	T	18	35263719	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.88014054966508E-5	0.0
18	32843684	C	A	18	35263720	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.72863585454216E-5	0.006
18	32843684	C	G	18	35263720	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.31929338280547E-5	0.006
18	32843684	C	T	18	35263720	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.72863585454216E-5	0.006
18	32843685	A	C	18	35263721	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.04434950096152E-4	0.026
18	32843685	A	G	18	35263721	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.04434950096152E-4	0.026
18	32843685	A	T	18	35263721	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.06602690930623E-4	0.024
18	32843686	A	C	18	35263722	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.16581026635165E-5	0.006
18	32843686	A	G	18	35263722	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.16581026635165E-5	0.006
18	32843686	A	T	18	35263722	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.16581026635165E-5	0.006
18	32843687	C	A	18	35263723	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.28877913676269E-5	0.006
18	32843687	C	G	18	35263723	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.28877913676269E-5	0.008
18	32843687	C	T	18	35263723	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.28877913676269E-5	0.008
18	32843688	A	C	18	35263724	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.29994972594758E-5	0.12
18	32843688	A	G	18	35263724	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.29994972594758E-5	0.044
18	32843688	A	T	18	35263724	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.21557472225283E-5	0.0
18	32843689	G	A	18	35263725	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.24015432087519E-5	0.0
18	32843689	G	C	18	35263725	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.00286289604843E-5	0.0
18	32843689	G	T	18	35263725	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.00286289604843E-5	0.0
18	32843901	C	A	18	35263937	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00622786257598514	0.014
18	32843901	C	G	18	35263937	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00622786257598514	0.016
18	32843901	C	T	18	35263937	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00622786257598514	0.034
18	32843902	T	A	18	35263938	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	8.40889635265456E-5	0.0
18	32843902	T	C	18	35263938	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.01946629659265E-4	0.002
18	32843902	T	G	18	35263938	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.14460769398578E-4	0.004
18	32843903	T	A	18	35263939	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00110668469734898	0.03
18	32843903	T	C	18	35263939	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00199059837528771	0.026
18	32843903	T	G	18	35263939	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00488262556483036	0.184
18	32843904	C	A	18	35263940	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.962230379133996	0.6
18	32843904	C	G	18	35263940	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.885161534758848	0.638
18	32843904	C	T	18	35263940	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.938896813301479	0.638
18	32843905	T	A	18	35263941	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.2689358726077	0.278
18	32843905	T	C	18	35263941	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.493998931104851	0.386
18	32843905	T	G	18	35263941	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.071278020066987	0.32
18	32843906	T	A	18	35263942	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.883626284994772	0.57
18	32843906	T	C	18	35263942	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00301429268616573	0.116
18	32843906	T	G	18	35263942	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.880898084447745	0.684
18	32843907	A	C	18	35263943	y	y	splicing	ZSCAN30(NM_001166012:exon4:c.408+2T>G;NM_001112734:exon3:c.408+2T>G)	.	.	splicing	ENSG00000186814(ENST00000420878:exon4:c.408+2T>G;ENST00000333206:exon3:c.408+2T>G;ENST00000589178:exon3:c.408+2T>G;ENST00000383091:exon4:c.408+2T>G;ENST00000588448:exon2:c.102+2T>G;ENST00000592278:exon3:c.408+2T>G)	.	.	0.999986607513753	0.92
18	32843907	A	G	18	35263943	y	y	splicing	ZSCAN30(NM_001166012:exon4:c.408+2T>C;NM_001112734:exon3:c.408+2T>C)	.	.	splicing	ENSG00000186814(ENST00000420878:exon4:c.408+2T>C;ENST00000333206:exon3:c.408+2T>C;ENST00000589178:exon3:c.408+2T>C;ENST00000383091:exon4:c.408+2T>C;ENST00000588448:exon2:c.102+2T>C;ENST00000592278:exon3:c.408+2T>C)	.	.	0.988442841961622	0.564
18	32843907	A	T	18	35263943	y	y	splicing	ZSCAN30(NM_001166012:exon4:c.408+2T>A;NM_001112734:exon3:c.408+2T>A)	.	.	splicing	ENSG00000186814(ENST00000420878:exon4:c.408+2T>A;ENST00000333206:exon3:c.408+2T>A;ENST00000589178:exon3:c.408+2T>A;ENST00000383091:exon4:c.408+2T>A;ENST00000588448:exon2:c.102+2T>A;ENST00000592278:exon3:c.408+2T>A)	.	.	0.999986607513753	0.92
18	32843908	C	A	18	35263944	y	y	splicing	ZSCAN30(NM_001166012:exon4:c.408+1G>T;NM_001112734:exon3:c.408+1G>T)	.	.	splicing	ENSG00000186814(ENST00000420878:exon4:c.408+1G>T;ENST00000333206:exon3:c.408+1G>T;ENST00000589178:exon3:c.408+1G>T;ENST00000383091:exon4:c.408+1G>T;ENST00000588448:exon2:c.102+1G>T;ENST00000592278:exon3:c.408+1G>T)	.	.	0.999985532734767	0.936
18	32843908	C	G	18	35263944	y	y	splicing	ZSCAN30(NM_001166012:exon4:c.408+1G>C;NM_001112734:exon3:c.408+1G>C)	.	.	splicing	ENSG00000186814(ENST00000420878:exon4:c.408+1G>C;ENST00000333206:exon3:c.408+1G>C;ENST00000589178:exon3:c.408+1G>C;ENST00000383091:exon4:c.408+1G>C;ENST00000588448:exon2:c.102+1G>C;ENST00000592278:exon3:c.408+1G>C)	.	.	0.999985532734767	0.936
18	32843908	C	T	18	35263944	y	y	splicing	ZSCAN30(NM_001166012:exon4:c.408+1G>A;NM_001112734:exon3:c.408+1G>A)	.	.	splicing	ENSG00000186814(ENST00000420878:exon4:c.408+1G>A;ENST00000333206:exon3:c.408+1G>A;ENST00000589178:exon3:c.408+1G>A;ENST00000383091:exon4:c.408+1G>A;ENST00000588448:exon2:c.102+1G>A;ENST00000592278:exon3:c.408+1G>A)	.	.	0.999985532734767	0.936
18	32843909	C	A	18	35263945	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon3:c.G408T:p.Q136H;ZSCAN30:NM_001112734:exon2:c.G408T:p.Q136H;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon3:c.G408T:p.Q136H;ENSG00000186814:ENST00000588448:exon1:c.G102T:p.Q34H;ENSG00000186814:ENST00000589178:exon2:c.G408T:p.Q136H;ENSG00000186814:ENST00000383091:exon3:c.G408T:p.Q136H;ENSG00000186814:ENST00000333206:exon2:c.G408T:p.Q136H;ENSG00000186814:ENST00000592278:exon2:c.G408T:p.Q136H;	0.999884621857427	0.972
18	32843909	C	G	18	35263945	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon3:c.G408C:p.Q136H;ZSCAN30:NM_001112734:exon2:c.G408C:p.Q136H;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon3:c.G408C:p.Q136H;ENSG00000186814:ENST00000588448:exon1:c.G102C:p.Q34H;ENSG00000186814:ENST00000589178:exon2:c.G408C:p.Q136H;ENSG00000186814:ENST00000383091:exon3:c.G408C:p.Q136H;ENSG00000186814:ENST00000333206:exon2:c.G408C:p.Q136H;ENSG00000186814:ENST00000592278:exon2:c.G408C:p.Q136H;	0.999953567831803	0.966
18	32843909	C	T	18	35263945	y	y	exonic	ZSCAN30	synonymous SNV	ZSCAN30:NM_001166012:exon3:c.G408A:p.Q136Q;ZSCAN30:NM_001112734:exon2:c.G408A:p.Q136Q;	exonic	ENSG00000186814	synonymous SNV	ENSG00000186814:ENST00000420878:exon3:c.G408A:p.Q136Q;ENSG00000186814:ENST00000588448:exon1:c.G102A:p.Q34Q;ENSG00000186814:ENST00000589178:exon2:c.G408A:p.Q136Q;ENSG00000186814:ENST00000383091:exon3:c.G408A:p.Q136Q;ENSG00000186814:ENST00000333206:exon2:c.G408A:p.Q136Q;ENSG00000186814:ENST00000592278:exon2:c.G408A:p.Q136Q;	0.98273986682141	0.842
18	32843910	T	A	18	35263946	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon3:c.A407T:p.Q136L;ZSCAN30:NM_001112734:exon2:c.A407T:p.Q136L;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon3:c.A407T:p.Q136L;ENSG00000186814:ENST00000588448:exon1:c.A101T:p.Q34L;ENSG00000186814:ENST00000589178:exon2:c.A407T:p.Q136L;ENSG00000186814:ENST00000383091:exon3:c.A407T:p.Q136L;ENSG00000186814:ENST00000333206:exon2:c.A407T:p.Q136L;ENSG00000186814:ENST00000592278:exon2:c.A407T:p.Q136L;	0.996031318736849	0.664
18	32843910	T	C	18	35263946	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon3:c.A407G:p.Q136R;ZSCAN30:NM_001112734:exon2:c.A407G:p.Q136R;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon3:c.A407G:p.Q136R;ENSG00000186814:ENST00000588448:exon1:c.A101G:p.Q34R;ENSG00000186814:ENST00000589178:exon2:c.A407G:p.Q136R;ENSG00000186814:ENST00000383091:exon3:c.A407G:p.Q136R;ENSG00000186814:ENST00000333206:exon2:c.A407G:p.Q136R;ENSG00000186814:ENST00000592278:exon2:c.A407G:p.Q136R;	0.990378902104541	0.912
18	32843910	T	G	18	35263946	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon3:c.A407C:p.Q136P;ZSCAN30:NM_001112734:exon2:c.A407C:p.Q136P;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon3:c.A407C:p.Q136P;ENSG00000186814:ENST00000588448:exon1:c.A101C:p.Q34P;ENSG00000186814:ENST00000589178:exon2:c.A407C:p.Q136P;ENSG00000186814:ENST00000383091:exon3:c.A407C:p.Q136P;ENSG00000186814:ENST00000333206:exon2:c.A407C:p.Q136P;ENSG00000186814:ENST00000592278:exon2:c.A407C:p.Q136P;	0.983792230225338	0.844
18	32843911	G	A	18	35263947	y	y	exonic	ZSCAN30	stopgain SNV	ZSCAN30:NM_001166012:exon3:c.C406T:p.Q136X;ZSCAN30:NM_001112734:exon2:c.C406T:p.Q136X;	exonic	ENSG00000186814	stopgain SNV	ENSG00000186814:ENST00000420878:exon3:c.C406T:p.Q136X;ENSG00000186814:ENST00000588448:exon1:c.C100T:p.Q34X;ENSG00000186814:ENST00000589178:exon2:c.C406T:p.Q136X;ENSG00000186814:ENST00000383091:exon3:c.C406T:p.Q136X;ENSG00000186814:ENST00000333206:exon2:c.C406T:p.Q136X;ENSG00000186814:ENST00000592278:exon2:c.C406T:p.Q136X;	0.11389867608431	0.398
18	32843911	G	C	18	35263947	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon3:c.C406G:p.Q136E;ZSCAN30:NM_001112734:exon2:c.C406G:p.Q136E;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon3:c.C406G:p.Q136E;ENSG00000186814:ENST00000588448:exon1:c.C100G:p.Q34E;ENSG00000186814:ENST00000589178:exon2:c.C406G:p.Q136E;ENSG00000186814:ENST00000383091:exon3:c.C406G:p.Q136E;ENSG00000186814:ENST00000333206:exon2:c.C406G:p.Q136E;ENSG00000186814:ENST00000592278:exon2:c.C406G:p.Q136E;	6.34515321226835E-4	0.026
18	32843911	G	T	18	35263947	y	y	exonic	ZSCAN30	nonsynonymous SNV	ZSCAN30:NM_001166012:exon3:c.C406A:p.Q136K;ZSCAN30:NM_001112734:exon2:c.C406A:p.Q136K;	exonic	ENSG00000186814	nonsynonymous SNV	ENSG00000186814:ENST00000420878:exon3:c.C406A:p.Q136K;ENSG00000186814:ENST00000588448:exon1:c.C100A:p.Q34K;ENSG00000186814:ENST00000589178:exon2:c.C406A:p.Q136K;ENSG00000186814:ENST00000383091:exon3:c.C406A:p.Q136K;ENSG00000186814:ENST00000333206:exon2:c.C406A:p.Q136K;ENSG00000186814:ENST00000592278:exon2:c.C406A:p.Q136K;	0.00133293456750581	0.016
18	32844418	T	A	18	35264454	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	3.04011843831035E-4	0.032
18	32844418	T	C	18	35264454	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.78153851613994E-4	0.04
18	32844418	T	G	18	35264454	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.83576158989596E-4	0.05
18	32844419	C	A	18	35264455	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	0.921243880943533	0.56
18	32844419	C	G	18	35264455	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	0.739491944216005	0.578
18	32844419	C	T	18	35264455	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	0.0104645983497978	0.256
18	32844420	C	A	18	35264456	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999944853213407	0.936
18	32844420	C	G	18	35264456	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999964025206753	0.934
18	32844420	C	T	18	35264456	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999944853213407	0.936
18	32844421	T	A	18	35264457	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999954785339841	0.914
18	32844421	T	C	18	35264457	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999954785339841	0.93
18	32844421	T	G	18	35264457	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999954785339841	0.93
18	32844422	G	A	18	35264458	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.01225937576832E-4	0.074
18	32844422	G	C	18	35264458	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.992778562775934	0.824
18	32844422	G	T	18	35264458	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.889057842835155	0.73
18	32844423	A	C	18	35264459	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.18296707479367E-4	0.03
18	32844423	A	G	18	35264459	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.56339402090503E-5	0.054
18	32844423	A	T	18	35264459	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.15822877674115E-5	0.028
18	32844424	G	A	18	35264460	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	8.90811620020825E-5	0.02
18	32844424	G	C	18	35264460	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00804652651520933	0.166
18	32844424	G	T	18	35264460	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00105114498027764	0.082
18	32844425	G	A	18	35264461	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.00204351456815E-5	0.03
18	32844425	G	C	18	35264461	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.0192692737795823	0.294
18	32844425	G	T	18	35264461	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.0547196433317574	0.306
18	32844426	G	A	18	35264462	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.83378594546792E-5	0.012
18	32844426	G	C	18	35264462	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.999787991516284	0.974
18	32844426	G	T	18	35264462	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00648949907079683	0.108
18	32844427	T	A	18	35264463	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	8.72167299666662E-5	0.012
18	32844427	T	C	18	35264463	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.10252609724313E-4	0.026
18	32844427	T	G	18	35264463	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	9.42007868568693E-5	0.016
18	32844428	G	A	18	35264464	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.81216475309008E-5	0.0
18	32844428	G	C	18	35264464	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.66642257319938E-4	0.042
18	32844428	G	T	18	35264464	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.94823113674184E-4	0.022
18	32844429	G	A	18	35264465	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.0291873933743E-5	0.0
18	32844429	G	C	18	35264465	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.95001540990772E-4	0.084
18	32844429	G	T	18	35264465	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	8.31854733292554E-4	0.042
18	32844430	A	C	18	35264466	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.786467627766302	0.514
18	32844430	A	G	18	35264466	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00424725048017914	0.178
18	32844430	A	T	18	35264466	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.91201000192099	0.51
18	32844431	C	A	18	35264467	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.45370103598945E-5	0.028
18	32844431	C	G	18	35264467	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.29460259310865E-5	0.034
18	32844431	C	T	18	35264467	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	8.95479860185852E-5	0.014
18	32847432	C	A	18	35267468	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.4916954340738E-4	0.018
18	32847432	C	G	18	35267468	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	9.11159464097565E-5	0.004
18	32847432	C	T	18	35267468	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.4916954340738E-4	0.012
18	32847433	C	A	18	35267469	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	5.67891142965171E-5	0.002
18	32847433	C	G	18	35267469	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	5.67891142965171E-5	0.002
18	32847433	C	T	18	35267469	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	5.67891142965171E-5	0.002
18	32847434	A	C	18	35267470	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00226868641549906	0.112
18	32847434	A	G	18	35267470	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00226868641549906	0.11
18	32847434	A	T	18	35267470	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.0033536307527682	0.118
18	32847435	C	A	18	35267471	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00161685595845287	0.018
18	32847435	C	G	18	35267471	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00230623835732895	0.014
18	32847435	C	T	18	35267471	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00217586145985526	0.04
18	32847436	T	A	18	35267472	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.0033536307527682	0.118
18	32847436	T	C	18	35267472	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00226868641549906	0.114
18	32847436	T	G	18	35267472	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00226868641549906	0.122
18	32847437	C	A	18	35267473	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00161685595845287	0.018
18	32847437	C	G	18	35267473	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00230623835732895	0.014
18	32847437	C	T	18	35267473	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	0.00221159035294238	0.024
18	32847438	A	C	18	35267474	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.61273443728377E-4	0.034
18	32847438	A	G	18	35267474	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.61273443728377E-4	0.016
18	32847438	A	T	18	35267474	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.61273443728377E-4	0.01
18	32847439	C	A	18	35267475	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.00692000194525311	0.032
18	32847439	C	G	18	35267475	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.00764482882370293	0.03
18	32847439	C	T	18	35267475	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.00939757254004931	0.038
18	32847440	C	A	18	35267476	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.3957358345244E-4	0.034
18	32847440	C	G	18	35267476	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.9920955617261E-4	0.006
18	32847440	C	T	18	35267476	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.91017441597401E-4	0.01
18	32847441	C	A	18	35267477	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.53826237697495E-4	0.018
18	32847441	C	G	18	35267477	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.10853470952722E-4	0.018
18	32847441	C	T	18	35267477	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	8.26331655378463E-5	0.018
18	32847442	T	A	18	35267478	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	0.0033188576971014	0.128
18	32847442	T	C	18	35267478	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	0.00226868641549906	0.12
18	32847442	T	G	18	35267478	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	0.0033536307527682	0.118
18	32847642	C	A	18	35267678	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	3.53501532012125E-5	0.002
18	32847642	C	G	18	35267678	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	3.27613057368345E-5	0.0
18	32847642	C	T	18	35267678	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	4.02784891650442E-5	0.004
18	32847643	G	A	18	35267679	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	8.59124223434785E-5	0.018
18	32847643	G	C	18	35267679	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	8.59124223434785E-5	0.012
18	32847643	G	T	18	35267679	y	y	UTR5	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	8.59124223434785E-5	0.012
18	32847644	C	A	18	35267680	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.46004206284423E-5	0.002
18	32847644	C	G	18	35267680	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.46004206284423E-5	0.002
18	32847644	C	T	18	35267680	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.46004206284423E-5	0.002
18	32847645	T	A	18	35267681	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	3.8255501566349E-5	0.008
18	32847645	T	C	18	35267681	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	3.8255501566349E-5	0.006
18	32847645	T	G	18	35267681	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	3.8255501566349E-5	0.006
18	32847646	G	A	18	35267682	y	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	2.45277156108894E-5	0.002
18	32847646	G	C	18	35267682	y	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	2.45277156108894E-5	0.002
18	32847646	G	T	18	35267682	y	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	2.45277156108894E-5	0.002
18	32847647	C	A	18	35267683	y	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.00238715200698E-5	0.0
18	32847647	C	G	18	35267683	y	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.00238715200698E-5	0.0
18	32847647	C	T	18	35267683	y	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.00238715200698E-5	0.0
18	32847648	T	A	18	35267684	y	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	6.06850435703539E-5	0.01
18	32847648	T	C	18	35267684	y	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	2.55663598370402E-5	0.008
18	32847648	T	G	18	35267684	y	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	5.32599655124467E-5	0.008
18	32847649	G	A	18	35267685	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.00238715200698E-5	0.0
18	32847649	G	C	18	35267685	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.00238715200698E-5	0.002
18	32847649	G	T	18	35267685	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.00238715200698E-5	0.0
18	32847650	A	C	18	35267686	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.26718658278921E-5	0.008
18	32847650	A	G	18	35267686	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.26718658278921E-5	0.008
18	32847650	A	T	18	35267686	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.95735775412773E-5	0.006
18	32847651	A	C	18	35267687	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.89484418870929E-5	0.008
18	32847651	A	G	18	35267687	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.89484418870929E-5	0.008
18	32847651	A	T	18	35267687	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.87125311119806E-5	0.01
18	32847652	A	C	18	35267688	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.95853904142978E-5	0.004
18	32847652	A	G	18	35267688	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.95853904142978E-5	0.004
18	32847652	A	T	18	35267688	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.95853904142978E-5	0.004
18	32847653	G	A	18	35267689	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.79478485860224E-4	0.006
18	32847653	G	C	18	35267689	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.29000382898679E-4	0.002
18	32847653	G	T	18	35267689	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.29000382898679E-4	0.004
18	32847654	G	A	18	35267690	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.41069364790736E-5	0.01
18	32847654	G	C	18	35267690	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.41069364790736E-5	0.006
18	32847654	G	T	18	35267690	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.41069364790736E-5	0.006
18	32847655	G	A	18	35267691	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.41069364790736E-5	0.006
18	32847655	G	C	18	35267691	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.01559384236425E-5	0.002
18	32847655	G	T	18	35267691	y	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	2.41069364790736E-5	0.008
18	32847656	T	A	18	35267692	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.14301101535901E-5	0.004
18	32847656	T	C	18	35267692	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.14301101535901E-5	0.004
18	32847656	T	G	18	35267692	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.14301101535901E-5	0.004
18	32847657	G	A	18	35267693	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.01578748569253E-5	0.0
18	32847657	G	C	18	35267693	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.95241758590049E-5	0.0
18	32847657	G	T	18	35267693	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.95241758590049E-5	0.0
18	32847658	G	A	18	35267694	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.1738525533333E-5	0.004
18	32847658	G	C	18	35267694	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.08788427788342E-5	0.0
18	32847658	G	T	18	35267694	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	1.1738525533333E-5	0.0
18	32847834	A	C	18	35267870	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.67864951622834E-4	0.0
18	32847834	A	G	18	35267870	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.67864951622834E-4	0.0
18	32847834	A	T	18	35267870	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	6.67864951622834E-4	0.0
18	32847835	C	A	18	35267871	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.44782069694124E-5	0.002
18	32847835	C	G	18	35267871	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.44782069694124E-5	0.004
18	32847835	C	T	18	35267871	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.44782069694124E-5	0.002
18	32847836	G	A	18	35267872	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.08802802279601E-5	0.002
18	32847836	G	C	18	35267872	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.78864525412067E-5	0.002
18	32847836	G	T	18	35267872	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	3.78864525412067E-5	0.002
18	32847837	C	A	18	35267873	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	5.08291490468438E-5	0.006
18	32847837	C	G	18	35267873	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	5.08291490468438E-5	0.006
18	32847837	C	T	18	35267873	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	5.08291490468438E-5	0.014
18	32847838	T	A	18	35267874	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.27960844981443E-5	0.006
18	32847838	T	C	18	35267874	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.27960844981443E-5	0.008
18	32847838	T	G	18	35267874	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.27960844981443E-5	0.006
18	32847839	C	A	18	35267875	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.79478485860224E-4	0.026
18	32847839	C	G	18	35267875	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	7.79478485860224E-4	0.026
18	32847839	C	T	18	35267875	n	y	intronic	ZSCAN30	.	.	intronic	ENSG00000186814	.	.	4.3468224497129E-4	0.026
18	32847840	A	C	18	35267876	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	9.14505838604605E-5	0.008
18	32847840	A	G	18	35267876	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	9.14505838604605E-5	0.008
18	32847840	A	T	18	35267876	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	6.83891202920338E-5	0.0
18	32847841	C	A	18	35267877	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.16770149425671E-4	0.006
18	32847841	C	G	18	35267877	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	6.42474496267833E-5	0.006
18	32847841	C	T	18	35267877	n	y	intronic	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.16770149425671E-4	0.004
18	32847842	C	A	18	35267878	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.80274866394675E-5	0.0
18	32847842	C	G	18	35267878	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.80274866394675E-5	0.0
18	32847842	C	T	18	35267878	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.80274866394675E-5	0.0
18	32847843	G	A	18	35267879	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	2.46619449921589E-5	0.0
18	32847843	G	C	18	35267879	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.59660858139777E-5	0.0
18	32847843	G	T	18	35267879	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	1.59660858139777E-5	0.0
18	32847844	C	A	18	35267880	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	4.09774573448081E-5	0.004
18	32847844	C	G	18	35267880	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	4.09774573448081E-5	0.002
18	32847844	C	T	18	35267880	n	y	intronic	ZSCAN30	.	.	UTR5	ENSG00000186814	.	.	7.44782069694124E-5	0.006
18	32870040	A	C	18	35290076	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	8.0030884079177E-4	0.108
18	32870040	A	G	18	35290076	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	6.49478075473308E-4	0.0
18	32870040	A	T	18	35290076	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.00264907308322132	0.032
18	32870041	A	C	18	35290077	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.00104456468549317	0.002
18	32870041	A	G	18	35290077	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	6.49478075473308E-4	0.002
18	32870041	A	T	18	35290077	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.00132791081181593	0.024
18	32870042	A	C	18	35290078	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.763249059017495	0.624
18	32870042	A	G	18	35290078	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.197574387961127	0.404
18	32870042	A	T	18	35290078	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.540526480661008	0.48
18	32870043	C	A	18	35290079	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.999819579083798	0.818
18	32870043	C	G	18	35290079	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.999939722451076	0.854
18	32870043	C	T	18	35290079	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.999970731033333	0.854
18	32870044	C	A	18	35290080	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	5.46793162357912E-5	0.046
18	32870044	C	G	18	35290080	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	9.64546674141692E-5	0.114
18	32870044	C	T	18	35290080	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	8.9364779413158E-5	0.028
18	32870045	T	A	18	35290081	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.991681736267814	0.854
18	32870045	T	C	18	35290081	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.790541881822018	0.758
18	32870045	T	G	18	35290081	y	y	intronic	ZSCAN30	.	.	ncRNA_intronic	ENSG00000268573	.	.	0.998466088175384	0.858
18	32870046	A	C	18	35290082	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999990155693597	0.93
18	32870046	A	G	18	35290082	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.980894216593405	0.604
18	32870046	A	T	18	35290082	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999990155693597	0.934
18	32870047	C	A	18	35290083	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999966807092583	0.818
18	32870047	C	G	18	35290083	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999966807092583	0.822
18	32870047	C	T	18	35290083	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.999966807092583	0.812
18	32870048	C	A	18	35290084	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.999829312442403	0.986
18	32870048	C	G	18	35290084	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.999912848932598	0.932
18	32870048	C	T	18	35290084	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.999788023156026	0.978
18	32870049	C	A	18	35290085	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	2.03198335963634E-4	0.02
18	32870049	C	G	18	35290085	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	6.55381222926092E-4	0.01
18	32870049	C	T	18	35290085	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.00161752998903328	0.13
18	32870050	T	A	18	35290086	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.00312056586714722	0.282
18	32870050	T	C	18	35290086	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	8.32738328239005E-4	0.156
18	32870050	T	G	18	35290086	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	7.39471823132825E-6	0.038
18	32870087	A	C	18	35290123	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	1.94210475084878E-4	0.138
18	32870087	A	G	18	35290123	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	1.94210475084878E-4	0.14
18	32870087	A	T	18	35290123	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	1.94210475084878E-4	0.138
18	32870088	C	A	18	35290124	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.00940319692440329	0.198
18	32870088	C	G	18	35290124	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.00940319692440329	0.154
18	32870088	C	T	18	35290124	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.00940319692440329	0.22
18	32870089	A	C	18	35290125	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.0190548550552831	0.182
18	32870089	A	G	18	35290125	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.0190548550552831	0.184
18	32870089	A	T	18	35290125	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.0190548550552831	0.206
18	32870090	T	A	18	35290126	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.437720675555576	0.68
18	32870090	T	C	18	35290126	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.438455591420921	0.68
18	32870090	T	G	18	35290126	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.438455591420921	0.68
18	32870091	T	A	18	35290127	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.0113856197503114	0.202
18	32870091	T	C	18	35290127	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.0113856197503114	0.176
18	32870091	T	G	18	35290127	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	0.0113856197503114	0.176
18	32870092	C	A	18	35290128	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	1.13726597090133E-4	0.108
18	32870092	C	G	18	35290128	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	1.13726597090133E-4	0.108
18	32870092	C	T	18	35290128	y	y	UTR5	ZSCAN30	.	.	ncRNA_UTR5	ENSG00000186814	.	.	1.28051689324516E-4	0.122
18	32870093	A	C	18	35290129	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.438455591420921	0.65
18	32870093	A	G	18	35290129	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.438455591420921	0.65
18	32870093	A	T	18	35290129	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	0.437720675555576	0.646
18	32870094	C	A	18	35290130	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	8.19137445237104E-5	0.11
18	32870094	C	G	18	35290130	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	8.19137445237104E-5	0.118
18	32870094	C	T	18	35290130	y	y	splicing	ZSCAN30	.	.	splicing	ENSG00000186814	.	.	1.11727784104008E-4	0.11
18	32870095	C	A	18	35290131	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	6.91633623003265E-4	0.064
18	32870095	C	G	18	35290131	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	5.77036911590194E-4	0.07
18	32870095	C	T	18	35290131	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	9.40953140267353E-4	0.07
18	32870096	T	A	18	35290132	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	1.57783960850857E-4	0.162
18	32870096	T	C	18	35290132	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	1.57783960850857E-4	0.11
18	32870096	T	G	18	35290132	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	1.57783960850857E-4	0.12
18	32870097	C	A	18	35290133	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	0.0456301098052828	0.164
18	32870097	C	G	18	35290133	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	0.0456301098052828	0.156
18	32870097	C	T	18	35290133	y	y	UTR5	ZSCAN30	.	.	ncRNA_exonic	ENSG00000268573	.	.	0.0510847978272511	0.206
18	32917733	A	C	18	35337769	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon4:c.T570G:p.D190E;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000399061:exon4:c.T570G:p.D190E;ENSG00000172466:ENST00000261332:exon4:c.T570G:p.D190E;	0.0077322854275266	0.148
18	32917733	A	G	18	35337769	y	y	exonic	ZNF24	synonymous SNV	ZNF24:NM_006965:exon4:c.T570C:p.D190D;	exonic	ENSG00000172466	synonymous SNV	ENSG00000172466:ENST00000399061:exon4:c.T570C:p.D190D;ENSG00000172466:ENST00000261332:exon4:c.T570C:p.D190D;	0.00134264737990961	0.16
18	32917733	A	T	18	35337769	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon4:c.T570A:p.D190E;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000399061:exon4:c.T570A:p.D190E;ENSG00000172466:ENST00000261332:exon4:c.T570A:p.D190E;	0.0174729453932458	0.244
18	32917734	T	A	18	35337770	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon4:c.A569T:p.D190V;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000399061:exon4:c.A569T:p.D190V;ENSG00000172466:ENST00000261332:exon4:c.A569T:p.D190V;	0.920977087963342	0.596
18	32917734	T	C	18	35337770	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon4:c.A569G:p.D190G;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000399061:exon4:c.A569G:p.D190G;ENSG00000172466:ENST00000261332:exon4:c.A569G:p.D190G;	0.00152380335658503	0.016
18	32917734	T	G	18	35337770	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon4:c.A569C:p.D190A;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000399061:exon4:c.A569C:p.D190A;ENSG00000172466:ENST00000261332:exon4:c.A569C:p.D190A;	0.831132796802931	0.518
18	32917735	C	A	18	35337771	y	y	splicing	ZNF24(NM_006965:exon5:c.569-1G>T)	.	.	splicing	ENSG00000172466(ENST00000261332:exon5:c.569-1G>T;ENST00000399061:exon5:c.569-1G>T)	.	.	0.99995586615188	0.948
18	32917735	C	G	18	35337771	y	y	splicing	ZNF24(NM_006965:exon5:c.569-1G>C)	.	.	splicing	ENSG00000172466(ENST00000261332:exon5:c.569-1G>C;ENST00000399061:exon5:c.569-1G>C)	.	.	0.99995586615188	0.946
18	32917735	C	T	18	35337771	y	y	splicing	ZNF24(NM_006965:exon5:c.569-1G>A)	.	.	splicing	ENSG00000172466(ENST00000261332:exon5:c.569-1G>A;ENST00000399061:exon5:c.569-1G>A)	.	.	0.99995586615188	0.948
18	32917736	T	A	18	35337772	y	y	splicing	ZNF24(NM_006965:exon5:c.569-2A>T)	.	.	splicing	ENSG00000172466(ENST00000261332:exon5:c.569-2A>T;ENST00000399061:exon5:c.569-2A>T)	.	.	0.99994568797423	0.93
18	32917736	T	C	18	35337772	y	y	splicing	ZNF24(NM_006965:exon5:c.569-2A>G)	.	.	splicing	ENSG00000172466(ENST00000261332:exon5:c.569-2A>G;ENST00000399061:exon5:c.569-2A>G)	.	.	0.99994568797423	0.94
18	32917736	T	G	18	35337772	y	y	splicing	ZNF24(NM_006965:exon5:c.569-2A>C)	.	.	splicing	ENSG00000172466(ENST00000261332:exon5:c.569-2A>C;ENST00000399061:exon5:c.569-2A>C)	.	.	0.99994568797423	0.94
18	32917737	G	A	18	35337773	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.0129763333592416	0.18
18	32917737	G	C	18	35337773	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.989705067091051	0.876
18	32917737	G	T	18	35337773	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.965445295719409	0.64
18	32917738	A	C	18	35337774	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	3.68171189580515E-4	0.006
18	32917738	A	G	18	35337774	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	2.50875967476181E-4	0.008
18	32917738	A	T	18	35337774	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	7.40805659282795E-4	0.006
18	32917739	A	C	18	35337775	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.461570128732345	0.408
18	32917739	A	G	18	35337775	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.0500889544142875	0.136
18	32917739	A	T	18	35337775	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.565631223670929	0.422
18	32917740	A	C	18	35337776	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.999813450448091	0.954
18	32917740	A	G	18	35337776	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.00189147265671974	0.074
18	32917740	A	T	18	35337776	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.3836209673501	0.444
18	32917741	T	A	18	35337777	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	1.2410383844873E-5	0.0
18	32917741	T	C	18	35337777	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	1.02266754760562E-5	0.0
18	32917741	T	G	18	35337777	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	1.24758497573036E-5	0.004
18	32917742	A	C	18	35337778	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.108020308242415	0.358
18	32917742	A	G	18	35337778	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	3.30892019155554E-4	0.022
18	32917742	A	T	18	35337778	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.229328097821547	0.382
18	32917743	A	C	18	35337779	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.0100692551590108	0.384
18	32917743	A	G	18	35337779	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	2.47130043326427E-4	0.02
18	32917743	A	T	18	35337779	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.0716577259252625	0.41
18	32917744	A	C	18	35337780	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.940139910436838	0.698
18	32917744	A	G	18	35337780	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.00938517584172009	0.112
18	32917744	A	T	18	35337780	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.931720924736869	0.778
18	32917745	C	A	18	35337781	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	5.51638551499673E-5	0.0
18	32917745	C	G	18	35337781	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	5.91471637307043E-5	0.002
18	32917745	C	T	18	35337781	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	2.22326532633226E-4	0.004
18	32917746	A	C	18	35337782	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.987867712271773	0.82
18	32917746	A	G	18	35337782	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.0653557304267664	0.248
18	32917746	A	T	18	35337782	y	y	intronic	ZNF24	.	.	UTR3	ENSG00000172466	.	.	0.99977826499705	0.952
18	32919036	T	A	18	35339072	n	y	intronic	ZNF24	.	.	exonic	ENSG00000172466	synonymous SNV	ENSG00000172466:ENST00000589881:exon3:c.A570T:p.V190V;	4.24975915077222E-5	0.0
18	32919036	T	C	18	35339072	n	y	intronic	ZNF24	.	.	exonic	ENSG00000172466	synonymous SNV	ENSG00000172466:ENST00000589881:exon3:c.A570G:p.V190V;	4.1020973109669E-5	0.0
18	32919036	T	G	18	35339072	n	y	intronic	ZNF24	.	.	exonic	ENSG00000172466	synonymous SNV	ENSG00000172466:ENST00000589881:exon3:c.A570C:p.V190V;	4.1020973109669E-5	0.0
18	32919037	A	C	18	35339073	n	y	intronic	ZNF24	.	.	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon3:c.T569G:p.V190G;	6.89925739660516E-5	0.008
18	32919037	A	G	18	35339073	n	y	intronic	ZNF24	.	.	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon3:c.T569C:p.V190A;	3.78205327723092E-5	0.004
18	32919037	A	T	18	35339073	n	y	intronic	ZNF24	.	.	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon3:c.T569A:p.V190E;	6.89925739660516E-5	0.004
18	32919038	C	A	18	35339074	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466(ENST00000589881:exon4:c.569-1G>T)	.	.	4.52932449848953E-5	0.004
18	32919038	C	G	18	35339074	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466(ENST00000589881:exon4:c.569-1G>C)	.	.	4.52932449848953E-5	0.006
18	32919038	C	T	18	35339074	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466(ENST00000589881:exon4:c.569-1G>A)	.	.	4.52932449848953E-5	0.002
18	32919039	T	A	18	35339075	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466(ENST00000589881:exon4:c.569-2A>T)	.	.	5.15941453541388E-5	0.014
18	32919039	T	C	18	35339075	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466(ENST00000589881:exon4:c.569-2A>G)	.	.	6.89925739660516E-5	0.004
18	32919039	T	G	18	35339075	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466(ENST00000589881:exon4:c.569-2A>C)	.	.	6.89925739660516E-5	0.004
18	32919040	A	C	18	35339076	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.99263190704948E-5	0.0
18	32919040	A	G	18	35339076	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.99263190704948E-5	0.0
18	32919040	A	T	18	35339076	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.1877777554816E-5	0.0
18	32919041	A	C	18	35339077	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.79263055397885E-5	0.016
18	32919041	A	G	18	35339077	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.79263055397885E-5	0.016
18	32919041	A	T	18	35339077	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.79263055397885E-5	0.016
18	32919042	A	C	18	35339078	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.79263055397885E-5	0.016
18	32919042	A	G	18	35339078	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.79263055397885E-5	0.016
18	32919042	A	T	18	35339078	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.79263055397885E-5	0.016
18	32919043	G	A	18	35339079	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.22311398176536E-5	0.012
18	32919043	G	C	18	35339079	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.31003130927308E-5	0.018
18	32919043	G	T	18	35339079	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.22311398176536E-5	0.026
18	32919044	C	A	18	35339080	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.57076726553018E-5	0.0
18	32919044	C	G	18	35339080	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.57076726553018E-5	0.0
18	32919044	C	T	18	35339080	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.57076726553018E-5	0.0
18	32919045	A	C	18	35339081	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.99263190704948E-5	0.0
18	32919045	A	G	18	35339081	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.99263190704948E-5	0.0
18	32919045	A	T	18	35339081	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.1877777554816E-5	0.0
18	32919046	G	A	18	35339082	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.10375415512646E-5	0.0
18	32919046	G	C	18	35339082	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.15042193520174E-5	0.018
18	32919046	G	T	18	35339082	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.10375415512646E-5	0.0
18	32919047	A	C	18	35339083	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.21557472225283E-5	0.0
18	32919047	A	G	18	35339083	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.21557472225283E-5	0.0
18	32919047	A	T	18	35339083	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.21557472225283E-5	0.0
18	32919048	G	A	18	35339084	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.47039489069415E-5	0.004
18	32919048	G	C	18	35339084	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.14301101535901E-5	0.0
18	32919048	G	T	18	35339084	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.47039489069415E-5	0.0
18	32919049	T	A	18	35339085	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.93008933363103E-5	0.0
18	32919049	T	C	18	35339085	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.82827935381688E-5	0.002
18	32919049	T	G	18	35339085	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.82827935381688E-5	0.002
18	32919785	G	A	18	35339821	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.11844337639936E-4	0.1
18	32919785	G	C	18	35339821	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.70468354515916E-4	0.0
18	32919785	G	T	18	35339821	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.43024250190556E-4	0.004
18	32919786	T	A	18	35339822	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00215668062274115	0.062
18	32919786	T	C	18	35339822	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.0185427091745E-4	0.01
18	32919786	T	G	18	35339822	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.40960925182419E-4	0.008
18	32919787	C	A	18	35339823	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.3380457414758E-4	0.082
18	32919787	C	G	18	35339823	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.02663590761507E-4	0.074
18	32919787	C	T	18	35339823	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.99018500044974E-4	0.042
18	32919788	C	A	18	35339824	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999960354405644	0.99
18	32919788	C	G	18	35339824	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999964055980978	0.98
18	32919788	C	T	18	35339824	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999979021550989	1.0
18	32919789	T	A	18	35339825	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999756377513226	0.926
18	32919789	T	C	18	35339825	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999695065337295	0.9
18	32919789	T	G	18	35339825	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999043020033447	0.938
18	32919790	C	A	18	35339826	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.995895506763602	0.586
18	32919790	C	G	18	35339826	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.992843628577914	0.648
18	32919790	C	T	18	35339826	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.30055629871492E-4	0.03
18	32919791	A	C	18	35339827	y	y	splicing	ZNF24(NM_006965:exon4:c.568+2T>G)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.568+2T>G;ENST00000399061:exon4:c.568+2T>G;ENST00000589881:exon3:c.568+2T>G)	.	.	0.999988247793601	0.93
18	32919791	A	G	18	35339827	y	y	splicing	ZNF24(NM_006965:exon4:c.568+2T>C)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.568+2T>C;ENST00000399061:exon4:c.568+2T>C;ENST00000589881:exon3:c.568+2T>C)	.	.	0.999983530538551	0.956
18	32919791	A	T	18	35339827	y	y	splicing	ZNF24(NM_006965:exon4:c.568+2T>A)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.568+2T>A;ENST00000399061:exon4:c.568+2T>A;ENST00000589881:exon3:c.568+2T>A)	.	.	0.999988247793601	0.932
18	32919792	C	A	18	35339828	y	y	splicing	ZNF24(NM_006965:exon4:c.568+1G>T)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.568+1G>T;ENST00000399061:exon4:c.568+1G>T;ENST00000589881:exon3:c.568+1G>T)	.	.	0.999990361384395	0.938
18	32919792	C	G	18	35339828	y	y	splicing	ZNF24(NM_006965:exon4:c.568+1G>C)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.568+1G>C;ENST00000399061:exon4:c.568+1G>C;ENST00000589881:exon3:c.568+1G>C)	.	.	0.999990361384395	0.938
18	32919792	C	T	18	35339828	y	y	splicing	ZNF24(NM_006965:exon4:c.568+1G>A)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.568+1G>A;ENST00000399061:exon4:c.568+1G>A;ENST00000589881:exon3:c.568+1G>A)	.	.	0.999990361384395	0.934
18	32919793	C	A	18	35339829	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G568T:p.D190Y;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G568T:p.V190L;ENSG00000172466:ENST00000399061:exon3:c.G568T:p.D190Y;ENSG00000172466:ENST00000261332:exon3:c.G568T:p.D190Y;	0.999992639538021	0.984
18	32919793	C	G	18	35339829	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G568C:p.D190H;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G568C:p.V190L;ENSG00000172466:ENST00000399061:exon3:c.G568C:p.D190H;ENSG00000172466:ENST00000261332:exon3:c.G568C:p.D190H;	0.999998009519537	1.0
18	32919793	C	T	18	35339829	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G568A:p.D190N;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G568A:p.V190I;ENSG00000172466:ENST00000399061:exon3:c.G568A:p.D190N;ENSG00000172466:ENST00000261332:exon3:c.G568A:p.D190N;	0.99999684130258	1.0
18	32919794	A	C	18	35339830	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.T567G:p.C189W;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.T567G:p.C189W;ENSG00000172466:ENST00000399061:exon3:c.T567G:p.C189W;ENSG00000172466:ENST00000261332:exon3:c.T567G:p.C189W;	0.0375410393129394	0.194
18	32919794	A	G	18	35339830	y	y	exonic	ZNF24	synonymous SNV	ZNF24:NM_006965:exon3:c.T567C:p.C189C;	exonic	ENSG00000172466	synonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.T567C:p.C189C;ENSG00000172466:ENST00000399061:exon3:c.T567C:p.C189C;ENSG00000172466:ENST00000261332:exon3:c.T567C:p.C189C;	0.00787939692647643	0.088
18	32919794	A	T	18	35339830	y	y	exonic	ZNF24	stopgain SNV	ZNF24:NM_006965:exon3:c.T567A:p.C189X;	exonic	ENSG00000172466	stopgain SNV	ENSG00000172466:ENST00000589881:exon2:c.T567A:p.C189X;ENSG00000172466:ENST00000399061:exon3:c.T567A:p.C189X;ENSG00000172466:ENST00000261332:exon3:c.T567A:p.C189X;	0.080377835409245	0.498
18	32919795	C	A	18	35339831	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G566T:p.C189F;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G566T:p.C189F;ENSG00000172466:ENST00000399061:exon3:c.G566T:p.C189F;ENSG00000172466:ENST00000261332:exon3:c.G566T:p.C189F;	0.420564956296425	0.402
18	32919795	C	G	18	35339831	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G566C:p.C189S;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G566C:p.C189S;ENSG00000172466:ENST00000399061:exon3:c.G566C:p.C189S;ENSG00000172466:ENST00000261332:exon3:c.G566C:p.C189S;	7.5772651489752E-4	0.06
18	32919795	C	T	18	35339831	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G566A:p.C189Y;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G566A:p.C189Y;ENSG00000172466:ENST00000399061:exon3:c.G566A:p.C189Y;ENSG00000172466:ENST00000261332:exon3:c.G566A:p.C189Y;	0.598520784130628	0.55
18	32919939	A	C	18	35339975	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.T422G:p.V141G;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.T422G:p.V141G;ENSG00000172466:ENST00000399061:exon3:c.T422G:p.V141G;ENSG00000172466:ENST00000261332:exon3:c.T422G:p.V141G;	0.484971838824751	0.564
18	32919939	A	G	18	35339975	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.T422C:p.V141A;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.T422C:p.V141A;ENSG00000172466:ENST00000399061:exon3:c.T422C:p.V141A;ENSG00000172466:ENST00000261332:exon3:c.T422C:p.V141A;	0.53243798663536	0.514
18	32919939	A	T	18	35339975	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.T422A:p.V141D;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.T422A:p.V141D;ENSG00000172466:ENST00000399061:exon3:c.T422A:p.V141D;ENSG00000172466:ENST00000261332:exon3:c.T422A:p.V141D;	0.382612740433851	0.608
18	32919940	C	A	18	35339976	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G421T:p.V141F;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G421T:p.V141F;ENSG00000172466:ENST00000399061:exon3:c.G421T:p.V141F;ENSG00000172466:ENST00000261332:exon3:c.G421T:p.V141F;	0.999710535692594	0.99
18	32919940	C	G	18	35339976	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G421C:p.V141L;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G421C:p.V141L;ENSG00000172466:ENST00000399061:exon3:c.G421C:p.V141L;ENSG00000172466:ENST00000261332:exon3:c.G421C:p.V141L;	0.999655251370599	0.97
18	32919940	C	T	18	35339976	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon3:c.G421A:p.V141I;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon2:c.G421A:p.V141I;ENSG00000172466:ENST00000399061:exon3:c.G421A:p.V141I;ENSG00000172466:ENST00000261332:exon3:c.G421A:p.V141I;	0.999106471531522	0.85
18	32919941	C	A	18	35339977	y	y	splicing	ZNF24(NM_006965:exon4:c.421-1G>T)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.421-1G>T;ENST00000399061:exon4:c.421-1G>T;ENST00000589881:exon3:c.421-1G>T)	.	.	0.999990361384395	0.936
18	32919941	C	G	18	35339977	y	y	splicing	ZNF24(NM_006965:exon4:c.421-1G>C)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.421-1G>C;ENST00000399061:exon4:c.421-1G>C;ENST00000589881:exon3:c.421-1G>C)	.	.	0.999990361384395	0.936
18	32919941	C	T	18	35339977	y	y	splicing	ZNF24(NM_006965:exon4:c.421-1G>A)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.421-1G>A;ENST00000399061:exon4:c.421-1G>A;ENST00000589881:exon3:c.421-1G>A)	.	.	0.999990361384395	0.936
18	32919942	T	A	18	35339978	y	y	splicing	ZNF24(NM_006965:exon4:c.421-2A>T)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.421-2A>T;ENST00000399061:exon4:c.421-2A>T;ENST00000589881:exon3:c.421-2A>T)	.	.	0.999988247793601	0.926
18	32919942	T	C	18	35339978	y	y	splicing	ZNF24(NM_006965:exon4:c.421-2A>G)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.421-2A>G;ENST00000399061:exon4:c.421-2A>G;ENST00000589881:exon3:c.421-2A>G)	.	.	0.999988247793601	0.922
18	32919942	T	G	18	35339978	y	y	splicing	ZNF24(NM_006965:exon4:c.421-2A>C)	.	.	splicing	ENSG00000172466(ENST00000261332:exon4:c.421-2A>C;ENST00000399061:exon4:c.421-2A>C;ENST00000589881:exon3:c.421-2A>C)	.	.	0.999988247793601	0.92
18	32919943	G	A	18	35339979	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.029584240709682	0.114
18	32919943	G	C	18	35339979	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.992819181616495	0.894
18	32919943	G	T	18	35339979	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.896439238823751	0.642
18	32919944	G	A	18	35339980	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.92380692462283E-5	0.004
18	32919944	G	C	18	35339980	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.74187744091375E-5	0.006
18	32919944	G	T	18	35339980	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.79977633119509E-5	0.006
18	32919945	A	C	18	35339981	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.0393593725140908	0.268
18	32919945	A	G	18	35339981	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00173651396043862	0.042
18	32919945	A	T	18	35339981	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.0350837455677236	0.284
18	32919946	A	C	18	35339982	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00100984915525279	0.154
18	32919946	A	G	18	35339982	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.47797639980944E-5	0.002
18	32919946	A	T	18	35339982	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.61465352674607E-4	0.116
18	32919947	A	C	18	35339983	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00760845480191167	0.184
18	32919947	A	G	18	35339983	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.75278237179066E-4	0.022
18	32919947	A	T	18	35339983	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00698937247516215	0.12
18	32919948	C	A	18	35339984	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.91320489499667E-5	0.004
18	32919948	C	G	18	35339984	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.85825445276553E-5	0.008
18	32919948	C	T	18	35339984	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.4013395978501E-4	0.008
18	32919949	A	C	18	35339985	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00787055956235134	0.068
18	32919949	A	G	18	35339985	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.9597365106493E-4	0.004
18	32919949	A	T	18	35339985	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999795799583619	0.966
18	32919950	G	A	18	35339986	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.5844227746635E-5	0.052
18	32919950	G	C	18	35339986	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.67707778369396E-4	0.068
18	32919950	G	T	18	35339986	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00351557393246855	0.184
18	32919951	A	C	18	35339987	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.38026849676503E-4	0.062
18	32919951	A	G	18	35339987	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.64245892161496E-5	0.022
18	32919951	A	T	18	35339987	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.14118293727531E-4	0.062
18	32919952	A	C	18	35339988	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.04895126258149E-5	0.07
18	32919952	A	G	18	35339988	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.89459834504232E-5	0.008
18	32919952	A	T	18	35339988	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.71129528006353E-4	0.044
18	32920187	A	C	18	35340223	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.55472960422104E-5	0.0
18	32920187	A	G	18	35340223	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.35831543610088E-5	0.0
18	32920187	A	T	18	35340223	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.40053381145528E-4	0.002
18	32920188	G	A	18	35340224	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.33141600191487E-5	0.0
18	32920188	G	C	18	35340224	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.33141600191487E-5	0.0
18	32920188	G	T	18	35340224	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.64745399314608E-5	0.006
18	32920189	G	A	18	35340225	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.52475673418906E-5	0.008
18	32920189	G	C	18	35340225	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.63573376603889E-4	0.038
18	32920189	G	T	18	35340225	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.0948237180458E-4	0.01
18	32920190	C	A	18	35340226	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999968839784165	0.982
18	32920190	C	G	18	35340226	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999682556402074	0.912
18	32920190	C	T	18	35340226	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999905442373212	0.968
18	32920191	T	A	18	35340227	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.996560483722342	0.828
18	32920191	T	C	18	35340227	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.870655384411023	0.722
18	32920191	T	G	18	35340227	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.716340256107484	0.62
18	32920192	C	A	18	35340228	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.996256362265818	0.57
18	32920192	C	G	18	35340228	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.982410209724208	0.64
18	32920192	C	T	18	35340228	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.24496319853231E-4	0.006
18	32920193	A	C	18	35340229	y	y	splicing	ZNF24(NM_006965:exon3:c.420+2T>G)	.	.	splicing	ENSG00000172466(ENST00000261332:exon3:c.420+2T>G;ENST00000399061:exon3:c.420+2T>G;ENST00000589881:exon2:c.420+2T>G)	.	.	0.999989917668626	0.926
18	32920193	A	G	18	35340229	y	y	splicing	ZNF24(NM_006965:exon3:c.420+2T>C)	.	.	splicing	ENSG00000172466(ENST00000261332:exon3:c.420+2T>C;ENST00000399061:exon3:c.420+2T>C;ENST00000589881:exon2:c.420+2T>C)	.	.	0.999980522010335	0.946
18	32920193	A	T	18	35340229	y	y	splicing	ZNF24(NM_006965:exon3:c.420+2T>A)	.	.	splicing	ENSG00000172466(ENST00000261332:exon3:c.420+2T>A;ENST00000399061:exon3:c.420+2T>A;ENST00000589881:exon2:c.420+2T>A)	.	.	0.999989917668626	0.876
18	32920194	C	A	18	35340230	y	y	splicing	ZNF24(NM_006965:exon3:c.420+1G>T)	.	.	splicing	ENSG00000172466(ENST00000261332:exon3:c.420+1G>T;ENST00000399061:exon3:c.420+1G>T;ENST00000589881:exon2:c.420+1G>T)	.	.	0.999981760802075	0.944
18	32920194	C	G	18	35340230	y	y	splicing	ZNF24(NM_006965:exon3:c.420+1G>C)	.	.	splicing	ENSG00000172466(ENST00000261332:exon3:c.420+1G>C;ENST00000399061:exon3:c.420+1G>C;ENST00000589881:exon2:c.420+1G>C)	.	.	0.999981760802075	0.944
18	32920194	C	T	18	35340230	y	y	splicing	ZNF24(NM_006965:exon3:c.420+1G>A)	.	.	splicing	ENSG00000172466(ENST00000261332:exon3:c.420+1G>A;ENST00000399061:exon3:c.420+1G>A;ENST00000589881:exon2:c.420+1G>A)	.	.	0.999981760802075	0.932
18	32920195	C	A	18	35340231	y	y	exonic	ZNF24	synonymous SNV	ZNF24:NM_006965:exon2:c.G420T:p.P140P;	exonic	ENSG00000172466	synonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.G420T:p.P140P;ENSG00000172466:ENST00000399061:exon2:c.G420T:p.P140P;ENSG00000172466:ENST00000261332:exon2:c.G420T:p.P140P;	0.999102486875758	0.922
18	32920195	C	G	18	35340231	y	y	exonic	ZNF24	synonymous SNV	ZNF24:NM_006965:exon2:c.G420C:p.P140P;	exonic	ENSG00000172466	synonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.G420C:p.P140P;ENSG00000172466:ENST00000399061:exon2:c.G420C:p.P140P;ENSG00000172466:ENST00000261332:exon2:c.G420C:p.P140P;	0.999928667301984	0.908
18	32920195	C	T	18	35340231	y	y	exonic	ZNF24	synonymous SNV	ZNF24:NM_006965:exon2:c.G420A:p.P140P;	exonic	ENSG00000172466	synonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.G420A:p.P140P;ENSG00000172466:ENST00000399061:exon2:c.G420A:p.P140P;ENSG00000172466:ENST00000261332:exon2:c.G420A:p.P140P;	0.999759349806327	0.96
18	32920196	G	A	18	35340232	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon2:c.C419T:p.P140L;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.C419T:p.P140L;ENSG00000172466:ENST00000399061:exon2:c.C419T:p.P140L;ENSG00000172466:ENST00000261332:exon2:c.C419T:p.P140L;	0.879380284591117	0.52
18	32920196	G	C	18	35340232	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon2:c.C419G:p.P140R;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.C419G:p.P140R;ENSG00000172466:ENST00000399061:exon2:c.C419G:p.P140R;ENSG00000172466:ENST00000261332:exon2:c.C419G:p.P140R;	0.483466981911935	0.426
18	32920196	G	T	18	35340232	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon2:c.C419A:p.P140Q;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.C419A:p.P140Q;ENSG00000172466:ENST00000399061:exon2:c.C419A:p.P140Q;ENSG00000172466:ENST00000261332:exon2:c.C419A:p.P140Q;	9.01658783634648E-4	0.082
18	32920197	G	A	18	35340233	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon2:c.C418T:p.P140S;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.C418T:p.P140S;ENSG00000172466:ENST00000399061:exon2:c.C418T:p.P140S;ENSG00000172466:ENST00000261332:exon2:c.C418T:p.P140S;	0.438726768028444	0.39
18	32920197	G	C	18	35340233	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon2:c.C418G:p.P140A;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.C418G:p.P140A;ENSG00000172466:ENST00000399061:exon2:c.C418G:p.P140A;ENSG00000172466:ENST00000261332:exon2:c.C418G:p.P140A;	5.19038758018462E-4	0.046
18	32920197	G	T	18	35340233	y	y	exonic	ZNF24	nonsynonymous SNV	ZNF24:NM_006965:exon2:c.C418A:p.P140T;	exonic	ENSG00000172466	nonsynonymous SNV	ENSG00000172466:ENST00000589881:exon1:c.C418A:p.P140T;ENSG00000172466:ENST00000399061:exon2:c.C418A:p.P140T;ENSG00000172466:ENST00000261332:exon2:c.C418A:p.P140T;	0.00106964860241484	0.068
18	32920693	C	A	18	35340729	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.60128637838242E-4	0.002
18	32920693	C	G	18	35340729	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.91903555887557E-4	0.006
18	32920693	C	T	18	35340729	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.91903555887557E-4	0.008
18	32920694	A	C	18	35340730	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.30269809663752E-4	0.0
18	32920694	A	G	18	35340730	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	9.01287625058852E-5	0.0
18	32920694	A	T	18	35340730	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.16854158175536E-4	0.0
18	32920695	C	A	18	35340731	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	7.40958008362104E-5	0.0
18	32920695	C	G	18	35340731	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	7.40958008362104E-5	0.086
18	32920695	C	T	18	35340731	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	7.40958008362104E-5	0.006
18	32920696	T	A	18	35340732	y	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	2.631633626196E-5	0.002
18	32920696	T	C	18	35340732	y	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	5.97812262481974E-5	0.034
18	32920696	T	G	18	35340732	y	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.06959180299495E-4	0.012
18	32920697	C	A	18	35340733	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.987331156184577	0.73
18	32920697	C	G	18	35340733	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.93703371598278	0.712
18	32920697	C	T	18	35340733	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.683785867491395	0.56
18	32920698	C	A	18	35340734	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999938422912956	0.934
18	32920698	C	G	18	35340734	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999938422912956	0.938
18	32920698	C	T	18	35340734	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999966737406901	0.934
18	32920699	T	A	18	35340735	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999939020951004	0.938
18	32920699	T	C	18	35340735	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999939583170295	0.94
18	32920699	T	G	18	35340735	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999939583170295	0.94
18	32920700	G	A	18	35340736	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.4468890292224E-4	0.068
18	32920700	G	C	18	35340736	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999840757882638	0.982
18	32920700	G	T	18	35340736	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.988382660879578	0.57
18	32920701	A	C	18	35340737	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.88983274755051E-4	0.002
18	32920701	A	G	18	35340737	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.60669077866738E-4	0.0
18	32920701	A	T	18	35340737	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.70787649378643E-4	0.012
18	32920702	G	A	18	35340738	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.25315374893956E-5	0.004
18	32920702	G	C	18	35340738	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.040230204946676	0.176
18	32920702	G	T	18	35340738	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00227419025054628	0.042
18	32920703	G	A	18	35340739	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.49996135836589E-5	0.0
18	32920703	G	C	18	35340739	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00857576629110396	0.234
18	32920703	G	T	18	35340739	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00641673967390065	0.234
18	32920704	C	A	18	35340740	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.85961602871582E-5	0.008
18	32920704	C	G	18	35340740	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.07896993956904E-5	0.01
18	32920704	C	T	18	35340740	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.49358923694025E-4	0.014
18	32920705	A	C	18	35340741	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999829120789658	0.986
18	32920705	A	G	18	35340741	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.79753953704409E-4	0.014
18	32920705	A	T	18	35340741	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.999829243325467	0.986
18	32920706	T	A	18	35340742	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.27684350558858E-5	0.0
18	32920706	T	C	18	35340742	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.40664298118812E-5	0.006
18	32920706	T	G	18	35340742	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.55152378420082E-5	0.0
18	32920707	A	C	18	35340743	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.978256598555475	0.892
18	32920707	A	G	18	35340743	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.0227032230099519	0.284
18	32920707	A	T	18	35340743	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.990311694592139	0.782
18	32920708	A	C	18	35340744	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.748658699871651	0.582
18	32920708	A	G	18	35340744	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00498735212652362	0.17
18	32920708	A	T	18	35340744	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.471249762376467	0.588
18	32920709	G	A	18	35340745	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.94796864096851E-5	0.0
18	32920709	G	C	18	35340745	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.36279734119136E-4	0.01
18	32920709	G	T	18	35340745	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.77037313719726E-4	0.006
18	32922431	T	A	18	35342467	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.07620641825897E-5	0.0
18	32922431	T	C	18	35342467	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.99153316237132E-5	0.0
18	32922431	T	G	18	35342467	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.99153316237132E-5	0.0
18	32922432	C	A	18	35342468	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.64191646885158E-5	0.008
18	32922432	C	G	18	35342468	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.64191646885158E-5	0.008
18	32922432	C	T	18	35342468	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.64191646885158E-5	0.008
18	32922433	A	C	18	35342469	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.99153316237132E-5	0.0
18	32922433	A	G	18	35342469	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.99153316237132E-5	0.0
18	32922433	A	T	18	35342469	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.07620641825897E-5	0.0
18	32922434	C	A	18	35342470	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.99153316237132E-5	0.002
18	32922434	C	G	18	35342470	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.99153316237132E-5	0.002
18	32922434	C	T	18	35342470	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.99153316237132E-5	0.002
18	32922435	T	A	18	35342471	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.7317653019178E-5	0.014
18	32922435	T	C	18	35342471	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.83607598453576E-5	0.008
18	32922435	T	G	18	35342471	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.83607598453576E-5	0.008
18	32922436	C	A	18	35342472	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.45277156108894E-5	0.0
18	32922436	C	G	18	35342472	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.45277156108894E-5	0.0
18	32922436	C	T	18	35342472	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.45277156108894E-5	0.0
18	32922437	A	C	18	35342473	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.99153316237132E-5	0.0
18	32922437	A	G	18	35342473	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.99153316237132E-5	0.0
18	32922437	A	T	18	35342473	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	3.07620641825897E-5	0.0
18	32922438	C	A	18	35342474	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.71037163550947E-5	0.02
18	32922438	C	G	18	35342474	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.71037163550947E-5	0.028
18	32922438	C	T	18	35342474	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	2.64191646885158E-5	0.012
18	32922439	T	A	18	35342475	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.07620641825897E-5	0.004
18	32922439	T	C	18	35342475	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.99153316237132E-5	0.0
18	32922439	T	G	18	35342475	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.99153316237132E-5	0.0
18	32922440	G	A	18	35342476	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.30338091304305E-5	0.002
18	32922440	G	C	18	35342476	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.30338091304305E-5	0.002
18	32922440	G	T	18	35342476	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.30338091304305E-5	0.002
18	32922441	A	C	18	35342477	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	2.83607598453576E-5	0.008
18	32922441	A	G	18	35342477	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	2.83607598453576E-5	0.008
18	32922441	A	T	18	35342477	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.90810944018671E-5	0.014
18	32923700	G	A	18	35343736	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.39158555084616E-5	0.006
18	32923700	G	C	18	35343736	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.39158555084616E-5	0.012
18	32923700	G	T	18	35343736	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.39158555084616E-5	0.008
18	32923701	A	C	18	35343737	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.82035599739421E-5	0.004
18	32923701	A	G	18	35343737	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.82035599739421E-5	0.004
18	32923701	A	T	18	35343737	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.82035599739421E-5	0.004
18	32923702	G	A	18	35343738	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.7829240274771E-5	0.0
18	32923702	G	C	18	35343738	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.7829240274771E-5	0.0
18	32923702	G	T	18	35343738	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.7829240274771E-5	0.0
18	32923703	C	A	18	35343739	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.36567682305367E-5	0.002
18	32923703	C	G	18	35343739	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.36567682305367E-5	0.002
18	32923703	C	T	18	35343739	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.36567682305367E-5	0.002
18	32923704	A	C	18	35343740	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.65783318905253E-4	0.006
18	32923704	A	G	18	35343740	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.65783318905253E-4	0.006
18	32923704	A	T	18	35343740	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.42036712876231E-4	0.008
18	32923705	T	A	18	35343741	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.29559784397415E-5	0.0
18	32923705	T	C	18	35343741	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.78801534976706E-5	0.0
18	32923705	T	G	18	35343741	n	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.78801534976706E-5	0.0
18	32923706	A	C	18	35343742	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	6.46844991217429E-5	0.0
18	32923706	A	G	18	35343742	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	6.46844991217429E-5	0.0
18	32923706	A	T	18	35343742	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	6.46844991217429E-5	0.0
18	32923707	C	A	18	35343743	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	6.27477746119029E-5	0.0
18	32923707	C	G	18	35343743	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	4.92238065260132E-5	0.0
18	32923707	C	T	18	35343743	n	y	intronic	ZNF24	.	.	splicing	ENSG00000172466	.	.	6.27477746119029E-5	0.0
18	32923708	C	A	18	35343744	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	9.21585938585243E-5	0.0
18	32923708	C	G	18	35343744	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	9.21585938585243E-5	0.0
18	32923708	C	T	18	35343744	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	9.21585938585243E-5	0.0
18	32923709	G	A	18	35343745	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	6.39826558468951E-5	0.042
18	32923709	G	C	18	35343745	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	4.45170072801036E-5	0.042
18	32923709	G	T	18	35343745	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	6.39826558468951E-5	0.042
18	32923710	C	A	18	35343746	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.5857813890148E-4	0.006
18	32923710	C	G	18	35343746	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.5857813890148E-4	0.008
18	32923710	C	T	18	35343746	n	y	intronic	ZNF24	.	.	UTR5	ENSG00000172466	.	.	2.11773665242992E-4	0.008
18	32924316	C	A	18	35344352	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00471152314199616	0.002
18	32924316	C	G	18	35344352	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00347509054056031	0.012
18	32924316	C	T	18	35344352	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00153803445626527	0.028
18	32924317	C	A	18	35344353	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.07667356427189E-4	0.054
18	32924317	C	G	18	35344353	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.13565117142889E-4	0.014
18	32924317	C	T	18	35344353	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.58321980716488E-4	0.018
18	32924318	G	A	18	35344354	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.75799532531497E-5	0.01
18	32924318	G	C	18	35344354	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.21070569665081E-5	0.062
18	32924318	G	T	18	35344354	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.72273324603268E-4	0.05
18	32924319	C	A	18	35344355	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.996634233098554	0.646
18	32924319	C	G	18	35344355	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.998145400490131	0.65
18	32924319	C	T	18	35344355	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.995413394782614	0.652
18	32924320	A	C	18	35344356	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.86453958044705E-4	0.014
18	32924320	A	G	18	35344356	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00363398218938116	0.308
18	32924320	A	T	18	35344356	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00266916377509187	0.054
18	32924321	C	A	18	35344357	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.357786742952962	0.458
18	32924321	C	G	18	35344357	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.239260360103968	0.464
18	32924321	C	T	18	35344357	y	y	intronic	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.02759279227249E-4	0.076
18	32924322	A	C	18	35344358	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999105951503355	0.524
18	32924322	A	G	18	35344358	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.992762457942627	0.54
18	32924322	A	T	18	35344358	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.99842924637197	0.536
18	32924323	C	A	18	35344359	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999946320003381	0.774
18	32924323	C	G	18	35344359	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999967951938738	0.798
18	32924323	C	T	18	35344359	y	y	splicing	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.999961703524576	0.802
18	32924324	C	A	18	35344360	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.999438142190616	0.832
18	32924324	C	G	18	35344360	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.999871656428243	0.788
18	32924324	C	T	18	35344360	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.999924430050491	0.87
18	32924325	G	A	18	35344361	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.0126095792386883	0.068
18	32924325	G	C	18	35344361	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.00260041457572765	0.062
18	32924325	G	T	18	35344361	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.00132983450714728	0.176
18	32924326	G	A	18	35344362	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.060605414858265	0.352
18	32924326	G	C	18	35344362	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.0129006209857669	0.192
18	32924326	G	T	18	35344362	y	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.68070746339386E-4	0.038
18	32924327	C	A	18	35344363	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.0171879137150706	0.14
18	32924327	C	G	18	35344363	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.0711429346291944	0.26
18	32924327	C	T	18	35344363	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.149531090478845	0.332
18	32924328	G	A	18	35344364	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.00365143860138414	0.082
18	32924328	G	C	18	35344364	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.00630338208374186	0.086
18	32924328	G	T	18	35344364	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.0113905872358806	0.104
18	32924329	C	A	18	35344365	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.985450760537651	0.734
18	32924329	C	G	18	35344365	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.956488164091613	0.622
18	32924329	C	T	18	35344365	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.985450760537651	0.766
18	32924330	A	C	18	35344366	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.4177889146874E-4	0.12
18	32924330	A	G	18	35344366	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.58417613989154E-4	0.05
18	32924330	A	T	18	35344366	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.07855759160902E-4	0.066
18	32924331	A	C	18	35344367	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.64906404345629E-4	0.004
18	32924331	A	G	18	35344367	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	2.6350126630193E-4	0.002
18	32924331	A	T	18	35344367	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.64906404345629E-4	0.054
18	32924332	A	C	18	35344368	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.75081565026199	0.728
18	32924332	A	G	18	35344368	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.75081565026199	0.73
18	32924332	A	T	18	35344368	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.75081565026199	0.702
18	32924333	C	A	18	35344369	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.978948852770858	0.746
18	32924333	C	G	18	35344369	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.978948852770858	0.76
18	32924333	C	T	18	35344369	n	y	UTR5	ZNF24	.	.	splicing	ENSG00000172466	.	.	0.977261755001191	0.746
18	32924334	C	A	18	35344370	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.949249512619917	0.746
18	32924334	C	G	18	35344370	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.959231004404301	0.768
18	32924334	C	T	18	35344370	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.975364485989513	0.772
18	32924335	T	A	18	35344371	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.591499839765263	0.66
18	32924335	T	C	18	35344371	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.388116976961309	0.618
18	32924335	T	G	18	35344371	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.388116976961309	0.618
18	32924336	C	A	18	35344372	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.013096792592944	0.16
18	32924336	C	G	18	35344372	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.0102324701629131	0.13
18	32924336	C	T	18	35344372	n	y	UTR5	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.0316821255296289	0.226
18	32924625	G	A	18	35344661	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.16811292047004E-4	0.004
18	32924625	G	C	18	35344661	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.22244873056314E-4	0.004
18	32924625	G	T	18	35344661	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.81050447486223E-4	0.006
18	32924626	T	A	18	35344662	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.05214370486973E-5	0.004
18	32924626	T	C	18	35344662	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.75684941161229E-5	0.0
18	32924626	T	G	18	35344662	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.75684941161229E-5	0.0
18	32924627	C	A	18	35344663	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.22244873056314E-4	0.008
18	32924627	C	G	18	35344663	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.71819796559124E-4	0.006
18	32924627	C	T	18	35344663	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.31885167388248E-4	0.006
18	32924628	C	A	18	35344664	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.13536747317882E-5	0.002
18	32924628	C	G	18	35344664	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.13536747317882E-5	0.002
18	32924628	C	T	18	35344664	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.13536747317882E-5	0.002
18	32924629	T	A	18	35344665	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	7.29649089108586E-5	0.002
18	32924629	T	C	18	35344665	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.21133756078422E-5	0.002
18	32924629	T	G	18	35344665	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	4.21133756078422E-5	0.002
18	32924630	T	A	18	35344666	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.12581597765867E-4	0.0
18	32924630	T	C	18	35344666	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.12581597765867E-4	0.0
18	32924630	T	G	18	35344666	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.12581597765867E-4	0.0
18	32924631	A	C	18	35344667	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.53906294760088E-4	0.0
18	32924631	A	G	18	35344667	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.53906294760088E-4	0.0
18	32924631	A	T	18	35344667	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	2.05534958721258E-4	0.0
18	32924632	C	A	18	35344668	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.21364670957993E-4	0.002
18	32924632	C	G	18	35344668	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	2.25919551743448E-4	0.002
18	32924632	C	T	18	35344668	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.5828886023085E-4	0.004
18	32924633	A	C	18	35344669	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.00130773304317029	0.002
18	32924633	A	G	18	35344669	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.00130773304317029	0.002
18	32924633	A	T	18	35344669	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	0.00129414590274096	0.0
18	32924634	A	C	18	35344670	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.25211721530026E-4	0.028
18	32924634	A	G	18	35344670	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	9.02785913285404E-5	0.004
18	32924634	A	T	18	35344670	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	6.72609824252977E-5	0.0
18	32924635	T	A	18	35344671	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.30934304505168E-4	0.0
18	32924635	T	C	18	35344671	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.86879639678869E-4	0.0
18	32924635	T	G	18	35344671	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	1.86879639678869E-4	0.0
18	32924684	C	A	18	35344720	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.69439264402225E-5	0.002
18	32924684	C	G	18	35344720	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.69439264402225E-5	0.002
18	32924684	C	T	18	35344720	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.69439264402225E-5	0.002
18	32924685	C	A	18	35344721	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.05808194911997E-5	0.002
18	32924685	C	G	18	35344721	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.05808194911997E-5	0.004
18	32924685	C	T	18	35344721	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	5.58255349957421E-5	0.002
18	32924686	C	A	18	35344722	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	4.80924373634625E-5	0.0
18	32924686	C	G	18	35344722	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	4.80924373634625E-5	0.0
18	32924686	C	T	18	35344722	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	9.97327582115784E-5	0.0
18	32924687	T	A	18	35344723	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	2.37660782053663E-4	0.008
18	32924687	T	C	18	35344723	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.5828886023085E-4	0.008
18	32924687	T	G	18	35344723	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.5828886023085E-4	0.008
18	32924688	G	A	18	35344724	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.97961276409738E-5	0.0
18	32924688	G	C	18	35344724	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.97961276409738E-5	0.0
18	32924688	G	T	18	35344724	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.97961276409738E-5	0.0
18	32924689	C	A	18	35344725	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.69439264402225E-5	0.0
18	32924689	C	G	18	35344725	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.69439264402225E-5	0.0
18	32924689	C	T	18	35344725	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.69439264402225E-5	0.0
18	32924690	A	C	18	35344726	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.46844991217429E-5	0.01
18	32924690	A	G	18	35344726	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.46844991217429E-5	0.01
18	32924690	A	T	18	35344726	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.7357792130175E-4	0.01
18	32924691	A	C	18	35344727	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.69336657131178E-4	0.004
18	32924691	A	G	18	35344727	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.69336657131178E-4	0.004
18	32924691	A	T	18	35344727	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.58261443677931E-4	0.004
18	32924692	G	A	18	35344728	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	9.75123824698313E-5	0.018
18	32924692	G	C	18	35344728	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.39179256655471E-4	0.046
18	32924692	G	T	18	35344728	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.39179256655471E-4	0.01
18	32924693	A	C	18	35344729	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.61228075999277E-4	0.002
18	32924693	A	G	18	35344729	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.61228075999277E-4	0.002
18	32924693	A	T	18	35344729	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.175271902372E-4	0.004
18	32924694	A	C	18	35344730	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00220702260956754	0.02
18	32924694	A	G	18	35344730	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00220702260956754	0.02
18	32924694	A	T	18	35344730	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	0.00225014457990107	0.026
18	32924695	G	A	18	35344731	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.8551835119743E-4	0.012
18	32924695	G	C	18	35344731	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	6.5779928443876E-4	0.014
18	32924695	G	T	18	35344731	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.8551835119743E-4	0.01
18	32924696	G	A	18	35344732	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.75764508142209E-5	0.002
18	32924696	G	C	18	35344732	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.75764508142209E-5	0.002
18	32924696	G	T	18	35344732	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	8.75764508142209E-5	0.002
18	32924697	A	C	18	35344733	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.61228075999277E-4	0.002
18	32924697	A	G	18	35344733	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.61228075999277E-4	0.002
18	32924697	A	T	18	35344733	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.175271902372E-4	0.008
18	32925235	C	A	18	35345271	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.30852315876377E-5	0.008
18	32925235	C	G	18	35345271	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.30852315876377E-5	0.008
18	32925235	C	T	18	35345271	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.30852315876377E-5	0.008
18	32925236	C	A	18	35345272	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.78864525412067E-5	0.0
18	32925236	C	G	18	35345272	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.45277156108894E-5	0.0
18	32925236	C	T	18	35345272	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.78864525412067E-5	0.0
18	32925237	A	C	18	35345273	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.52873415590811E-5	0.0
18	32925237	A	G	18	35345273	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.52873415590811E-5	0.0
18	32925237	A	T	18	35345273	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.72856012916778E-5	0.0
18	32925238	G	A	18	35345274	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.42005417025298E-5	0.0
18	32925238	G	C	18	35345274	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.42005417025298E-5	0.0
18	32925238	G	T	18	35345274	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.42005417025298E-5	0.0
18	32925239	T	A	18	35345275	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	1.00925306948278E-4	0.0
18	32925239	T	C	18	35345275	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.5529151830241E-5	0.0
18	32925239	T	G	18	35345275	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	5.5529151830241E-5	0.0
18	32925240	C	A	18	35345276	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.78205327723092E-5	0.104
18	32925240	C	G	18	35345276	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	3.78205327723092E-5	0.006
18	32925240	C	T	18	35345276	n	y	upstream	ZNF24	.	.	intronic	ENSG00000172466	.	.	2.82827935381688E-5	0.004
18	32925241	A	C	18	35345277	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	7.62500938860321E-5	0.0
18	32925241	A	G	18	35345277	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	7.62500938860321E-5	0.0
18	32925241	A	T	18	35345277	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	4.19523722086209E-5	0.0
18	32925242	C	A	18	35345278	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.02337758398172E-4	0.0
18	32925242	C	G	18	35345278	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.02337758398172E-4	0.0
18	32925242	C	T	18	35345278	n	y	upstream	ZNF24	.	.	splicing	ENSG00000172466	.	.	1.02337758398172E-4	0.0
18	32925243	C	A	18	35345279	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	4.68952365742707E-5	0.006
18	32925243	C	G	18	35345279	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	4.68952365742707E-5	0.006
18	32925243	C	T	18	35345279	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	4.68952365742707E-5	0.006
18	32925244	T	A	18	35345280	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.39529611572298E-5	0.004
18	32925244	T	C	18	35345280	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.39529611572298E-5	0.004
18	32925244	T	G	18	35345280	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	3.39529611572298E-5	0.004
18	32925245	C	A	18	35345281	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	4.68952365742707E-5	0.006
18	32925245	C	G	18	35345281	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	4.68952365742707E-5	0.006
18	32925245	C	T	18	35345281	n	y	upstream	ZNF24	.	.	UTR5	ENSG00000172466	.	.	4.68952365742707E-5	0.008
18	32948408	A	C	18	35368444	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon5:c.T909G:p.D303E;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000306346:exon5:c.T909G:p.D303E;	0.043917976853272	0.114
18	32948408	A	G	18	35368444	y	y	exonic	ZNF396	synonymous SNV	ZNF396:NM_145756:exon5:c.T909C:p.D303D;	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000306346:exon5:c.T909C:p.D303D;	0.00701892009076545	0.038
18	32948408	A	T	18	35368444	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon5:c.T909A:p.D303E;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000306346:exon5:c.T909A:p.D303E;	0.0260601796093618	0.122
18	32948409	T	A	18	35368445	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon5:c.A908T:p.D303V;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000306346:exon5:c.A908T:p.D303V;	0.00177573400600571	0.136
18	32948409	T	C	18	35368445	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon5:c.A908G:p.D303G;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000306346:exon5:c.A908G:p.D303G;	7.70669825510808E-4	0.02
18	32948409	T	G	18	35368445	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon5:c.A908C:p.D303A;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000306346:exon5:c.A908C:p.D303A;	0.0038329924197782	0.16
18	32948410	C	A	18	35368446	y	y	splicing	ZNF396(NM_145756:exon6:c.908-1G>T)	.	.	splicing	ENSG00000186496(ENST00000306346:exon6:c.908-1G>T)	.	.	0.99989656323917	0.766
18	32948410	C	G	18	35368446	y	y	splicing	ZNF396(NM_145756:exon6:c.908-1G>C)	.	.	splicing	ENSG00000186496(ENST00000306346:exon6:c.908-1G>C)	.	.	0.999929575678921	0.766
18	32948410	C	T	18	35368446	y	y	splicing	ZNF396(NM_145756:exon6:c.908-1G>A)	.	.	splicing	ENSG00000186496(ENST00000306346:exon6:c.908-1G>A)	.	.	0.999931658812138	0.754
18	32948411	T	A	18	35368447	y	y	splicing	ZNF396(NM_145756:exon6:c.908-2A>T)	.	.	splicing	ENSG00000186496(ENST00000306346:exon6:c.908-2A>T)	.	.	0.999963044777912	0.78
18	32948411	T	C	18	35368447	y	y	splicing	ZNF396(NM_145756:exon6:c.908-2A>G)	.	.	splicing	ENSG00000186496(ENST00000306346:exon6:c.908-2A>G)	.	.	0.999963044777912	0.74
18	32948411	T	G	18	35368447	y	y	splicing	ZNF396(NM_145756:exon6:c.908-2A>C)	.	.	splicing	ENSG00000186496(ENST00000306346:exon6:c.908-2A>C)	.	.	0.999963044777912	0.742
18	32948412	A	C	18	35368448	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.953336207014202	0.726
18	32948412	A	G	18	35368448	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.68885550855314E-5	0.006
18	32948412	A	T	18	35368448	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00548176438816666	0.24
18	32948413	G	A	18	35368449	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.45134951365184E-5	0.0
18	32948413	G	C	18	35368449	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.982391663747355	0.818
18	32948413	G	T	18	35368449	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.45134951365184E-5	0.0
18	32948414	T	A	18	35368450	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.07514609656215E-4	0.012
18	32948414	T	C	18	35368450	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.57112940918954E-4	0.004
18	32948414	T	G	18	35368450	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.77861822821749E-4	0.014
18	32948415	A	C	18	35368451	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.60612643113621	0.51
18	32948415	A	G	18	35368451	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.84274665421904E-4	0.028
18	32948415	A	T	18	35368451	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.224880081188136	0.462
18	32948416	A	C	18	35368452	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.761603208641788	0.472
18	32948416	A	G	18	35368452	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00162977665150273	0.04
18	32948416	A	T	18	35368452	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.860193129735416	0.504
18	32948417	C	A	18	35368453	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.19099796412306E-5	0.0
18	32948417	C	G	18	35368453	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.24044559563054E-5	0.002
18	32948417	C	T	18	35368453	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.81434072916424E-5	0.0
18	32948418	A	C	18	35368454	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0358256581939254	0.274
18	32948418	A	G	18	35368454	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.34796672881078E-5	0.022
18	32948418	A	T	18	35368454	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.999982914897311	0.982
18	32948419	G	A	18	35368455	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.35176480286442E-5	0.0
18	32948419	G	C	18	35368455	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.07986248605591E-4	0.034
18	32948419	G	T	18	35368455	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.12011598235063E-4	0.044
18	32948420	A	C	18	35368456	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.639408351505885	0.618
18	32948420	A	G	18	35368456	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0010226156046572	0.118
18	32948420	A	T	18	35368456	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.986758919014635	0.648
18	32948421	A	C	18	35368457	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.096739086790368	0.362
18	32948421	A	G	18	35368457	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.49412324597309E-4	0.028
18	32948421	A	T	18	35368457	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.208389556560675	0.368
18	32949272	C	A	18	35369308	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G915T:p.K305N;	1.47348756796826E-5	0.0
18	32949272	C	G	18	35369308	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G915C:p.K305N;	1.81104709051921E-5	0.0
18	32949272	C	T	18	35369308	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G915A:p.K305K;	1.47348756796826E-5	0.0
18	32949273	T	A	18	35369309	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A914T:p.K305M;	9.83154117867373E-4	0.044
18	32949273	T	C	18	35369309	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A914G:p.K305R;	7.58050027459995E-4	0.134
18	32949273	T	G	18	35369309	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A914C:p.K305T;	1.69599778147043E-4	0.0
18	32949274	T	A	18	35369310	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	stopgain SNV	ENSG00000186496:ENST00000589332:exon4:c.A913T:p.K305X;	3.87756443238989E-4	0.026
18	32949274	T	C	18	35369310	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A913G:p.K305E;	4.64959529217623E-4	0.006
18	32949274	T	G	18	35369310	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A913C:p.K305Q;	0.00741229141219205	0.104
18	32949275	C	A	18	35369311	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G912T:p.E304D;	0.998652754715827	0.602
18	32949275	C	G	18	35369311	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G912C:p.E304D;	0.998846305248552	0.674
18	32949275	C	T	18	35369311	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G912A:p.E304E;	0.996274160689255	0.568
18	32949276	T	A	18	35369312	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A911T:p.E304V;	0.997075662112477	0.834
18	32949276	T	C	18	35369312	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A911G:p.E304G;	0.982386275206259	0.742
18	32949276	T	G	18	35369312	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A911C:p.E304A;	0.90540073233942	0.586
18	32949277	C	A	18	35369313	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	stopgain SNV	ENSG00000186496:ENST00000589332:exon4:c.G910T:p.E304X;	0.965803596127975	0.55
18	32949277	C	G	18	35369313	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G910C:p.E304Q;	0.901577162271304	0.54
18	32949277	C	T	18	35369313	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G910A:p.E304K;	6.09983377714484E-5	0.006
18	32949278	A	C	18	35369314	y	n	splicing	ZNF396(NM_145756:exon5:c.907+2T>G)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon5:c.907+2T>G)	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T909G:p.G303G;	0.992629011747148	0.278
18	32949278	A	G	18	35369314	y	n	splicing	ZNF396(NM_145756:exon5:c.907+2T>C)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon5:c.907+2T>C)	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T909C:p.G303G;	0.992241414369485	0.294
18	32949278	A	T	18	35369314	y	n	splicing	ZNF396(NM_145756:exon5:c.907+2T>A)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon5:c.907+2T>A)	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T909A:p.G303G;	0.992629011747148	0.278
18	32949279	C	A	18	35369315	y	n	splicing	ZNF396(NM_145756:exon5:c.907+1G>T)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon5:c.907+1G>T)	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G908T:p.G303V;	0.999952286258862	0.852
18	32949279	C	G	18	35369315	y	n	splicing	ZNF396(NM_145756:exon5:c.907+1G>C)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon5:c.907+1G>C)	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G908C:p.G303A;	0.999942513266374	0.844
18	32949279	C	T	18	35369315	y	n	splicing	ZNF396(NM_145756:exon5:c.907+1G>A)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon5:c.907+1G>A)	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G908A:p.G303D;	0.999952286258862	0.852
18	32949280	C	A	18	35369316	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.G907T:p.D303Y;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G907T:p.G303C;ENSG00000186496:ENST00000306346:exon4:c.G907T:p.D303Y;	0.999773399856926	0.96
18	32949280	C	G	18	35369316	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.G907C:p.D303H;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G907C:p.G303R;ENSG00000186496:ENST00000306346:exon4:c.G907C:p.D303H;	0.999893088395872	0.99
18	32949280	C	T	18	35369316	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.G907A:p.D303N;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.G907A:p.G303S;ENSG00000186496:ENST00000306346:exon4:c.G907A:p.D303N;	0.999859744182256	1.0
18	32949281	A	C	18	35369317	y	n	exonic	ZNF396	synonymous SNV	ZNF396:NM_145756:exon4:c.T906G:p.T302T;	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T906G:p.T302T;ENSG00000186496:ENST00000306346:exon4:c.T906G:p.T302T;	1.45777764184693E-5	0.0
18	32949281	A	G	18	35369317	y	n	exonic	ZNF396	synonymous SNV	ZNF396:NM_145756:exon4:c.T906C:p.T302T;	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T906C:p.T302T;ENSG00000186496:ENST00000306346:exon4:c.T906C:p.T302T;	1.24118963901726E-5	0.0
18	32949281	A	T	18	35369317	y	n	exonic	ZNF396	synonymous SNV	ZNF396:NM_145756:exon4:c.T906A:p.T302T;	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T906A:p.T302T;ENSG00000186496:ENST00000306346:exon4:c.T906A:p.T302T;	3.07504083789188E-5	0.058
18	32949282	G	A	18	35369318	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.C905T:p.T302I;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.C905T:p.T302I;ENSG00000186496:ENST00000306346:exon4:c.C905T:p.T302I;	0.180110396472484	0.438
18	32949282	G	C	18	35369318	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.C905G:p.T302S;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.C905G:p.T302S;ENSG00000186496:ENST00000306346:exon4:c.C905G:p.T302S;	0.00146319147939264	0.096
18	32949282	G	T	18	35369318	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.C905A:p.T302N;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.C905A:p.T302N;ENSG00000186496:ENST00000306346:exon4:c.C905A:p.T302N;	6.77135058571492E-4	0.06
18	32949623	A	C	18	35369659	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.T564G:p.D188E;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T564G:p.D188E;ENSG00000186496:ENST00000306346:exon4:c.T564G:p.D188E;	1.97355212747936E-4	0.004
18	32949623	A	G	18	35369659	y	y	exonic	ZNF396	synonymous SNV	ZNF396:NM_145756:exon4:c.T564C:p.D188D;	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T564C:p.D188D;ENSG00000186496:ENST00000306346:exon4:c.T564C:p.D188D;	3.91340303254292E-5	0.006
18	32949623	A	T	18	35369659	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.T564A:p.D188E;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.T564A:p.D188E;ENSG00000186496:ENST00000306346:exon4:c.T564A:p.D188E;	2.23910731961124E-4	0.028
18	32949624	T	A	18	35369660	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.A563T:p.D188V;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A563T:p.D188V;ENSG00000186496:ENST00000306346:exon4:c.A563T:p.D188V;	3.91169806272329E-4	0.012
18	32949624	T	C	18	35369660	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.A563G:p.D188G;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A563G:p.D188G;ENSG00000186496:ENST00000306346:exon4:c.A563G:p.D188G;	5.6548630530522E-5	0.0
18	32949624	T	G	18	35369660	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon4:c.A563C:p.D188A;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon4:c.A563C:p.D188A;ENSG00000186496:ENST00000306346:exon4:c.A563C:p.D188A;	7.65919114008463E-5	0.006
18	32949625	C	A	18	35369661	y	y	splicing	ZNF396(NM_145756:exon5:c.563-1G>T)	.	.	splicing	ENSG00000186496(ENST00000306346:exon5:c.563-1G>T;ENST00000589332:exon5:c.563-1G>T)	.	.	0.999991289042512	0.774
18	32949625	C	G	18	35369661	y	y	splicing	ZNF396(NM_145756:exon5:c.563-1G>C)	.	.	splicing	ENSG00000186496(ENST00000306346:exon5:c.563-1G>C;ENST00000589332:exon5:c.563-1G>C)	.	.	0.999991289042512	0.774
18	32949625	C	T	18	35369661	y	y	splicing	ZNF396(NM_145756:exon5:c.563-1G>A)	.	.	splicing	ENSG00000186496(ENST00000306346:exon5:c.563-1G>A;ENST00000589332:exon5:c.563-1G>A)	.	.	0.999991289042512	0.774
18	32949626	T	A	18	35369662	y	y	splicing	ZNF396(NM_145756:exon5:c.563-2A>T)	.	.	splicing	ENSG00000186496(ENST00000306346:exon5:c.563-2A>T;ENST00000589332:exon5:c.563-2A>T)	.	.	0.999984399620937	0.752
18	32949626	T	C	18	35369662	y	y	splicing	ZNF396(NM_145756:exon5:c.563-2A>G)	.	.	splicing	ENSG00000186496(ENST00000306346:exon5:c.563-2A>G;ENST00000589332:exon5:c.563-2A>G)	.	.	0.999989378869813	0.756
18	32949626	T	G	18	35369662	y	y	splicing	ZNF396(NM_145756:exon5:c.563-2A>C)	.	.	splicing	ENSG00000186496(ENST00000306346:exon5:c.563-2A>C;ENST00000589332:exon5:c.563-2A>C)	.	.	0.999989378869813	0.754
18	32949627	G	A	18	35369663	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0160729969645208	0.2
18	32949627	G	C	18	35369663	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.998758857139312	0.806
18	32949627	G	T	18	35369663	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.895474848299053	0.312
18	32949628	A	C	18	35369664	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.0379516306111E-4	0.004
18	32949628	A	G	18	35369664	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.40332798533768E-5	0.008
18	32949628	A	T	18	35369664	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.27842830712798E-5	0.058
18	32949629	A	C	18	35369665	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0125083232656614	0.284
18	32949629	A	G	18	35369665	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00655537745882002	0.154
18	32949629	A	T	18	35369665	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0119680524224352	0.288
18	32949630	A	C	18	35369666	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.999671294812133	0.932
18	32949630	A	G	18	35369666	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.06314964066527E-4	0.114
18	32949630	A	T	18	35369666	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00493057879190313	0.166
18	32949631	T	A	18	35369667	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.28986255162975E-5	0.0
18	32949631	T	C	18	35369667	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.98493788762376E-5	0.0
18	32949631	T	G	18	35369667	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.21050492325583E-5	0.0
18	32949632	G	A	18	35369668	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.56658053192541E-5	0.02
18	32949632	G	C	18	35369668	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.30994310877554E-5	0.03
18	32949632	G	T	18	35369668	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.38326623770641E-5	0.052
18	32949633	G	A	18	35369669	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.22007186104552E-5	0.08
18	32949633	G	C	18	35369669	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.29885286851696E-5	0.04
18	32949633	G	T	18	35369669	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.3940596284366E-5	0.234
18	32949634	A	C	18	35369670	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.81537161547107E-4	0.15
18	32949634	A	G	18	35369670	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.03147356079883E-5	0.098
18	32949634	A	T	18	35369670	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.90782892319687E-4	0.206
18	32949635	A	C	18	35369671	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.74898624243761E-4	0.11
18	32949635	A	G	18	35369671	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.41558653987097E-5	0.034
18	32949635	A	T	18	35369671	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.52474937788659E-4	0.154
18	32949636	A	C	18	35369672	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.53497154787716E-4	0.096
18	32949636	A	G	18	35369672	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.83480545150331E-5	0.012
18	32949636	A	T	18	35369672	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.66473810447872E-4	0.116
18	32953412	C	A	18	35373448	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G570T:p.G190G;	3.79641626898212E-5	0.0
18	32953412	C	G	18	35373448	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G570C:p.G190G;	1.12292977359083E-4	0.0
18	32953412	C	T	18	35373448	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G570A:p.G190G;	3.79641626898212E-5	0.0
18	32953413	C	A	18	35373449	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G569T:p.G190V;	1.66991244534814E-4	0.004
18	32953413	C	G	18	35373449	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G569C:p.G190A;	3.45016355604485E-5	0.002
18	32953413	C	T	18	35373449	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G569A:p.G190E;	3.45016355604485E-5	0.002
18	32953414	C	A	18	35373450	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G568T:p.G190W;	6.03979901298614E-5	0.01
18	32953414	C	G	18	35373450	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G568C:p.G190R;	9.09792551214046E-5	0.006
18	32953414	C	T	18	35373450	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G568A:p.G190R;	1.43121161180077E-4	0.0
18	32953415	C	A	18	35373451	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G567T:p.E189D;	0.999973389992183	0.956
18	32953415	C	G	18	35373451	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G567C:p.E189D;	0.999954556480251	0.95
18	32953415	C	T	18	35373451	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G567A:p.E189E;	0.999974000202749	0.906
18	32953416	T	A	18	35373452	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.A566T:p.E189V;	0.99730618099342	0.852
18	32953416	T	C	18	35373452	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.A566G:p.E189G;	0.996536329359555	0.838
18	32953416	T	G	18	35373452	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.A566C:p.E189A;	0.613955257085549	0.566
18	32953417	C	A	18	35373453	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	stopgain SNV	ENSG00000186496:ENST00000586687:exon3:c.G565T:p.E189X;	0.988390325533172	0.628
18	32953417	C	G	18	35373453	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G565C:p.E189Q;	0.992311824531153	0.7
18	32953417	C	T	18	35373453	y	n	intronic	ZNF396	.	.	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G565A:p.E189K;	3.43973224796595E-4	0.022
18	32953418	A	C	18	35373454	y	n	splicing	ZNF396(NM_145756:exon4:c.562+2T>G)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon4:c.562+2T>G;ENST00000589332:exon4:c.562+2T>G)	synonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.T564G:p.G188G;	0.999962958601995	0.8
18	32953418	A	G	18	35373454	y	n	splicing	ZNF396(NM_145756:exon4:c.562+2T>C)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon4:c.562+2T>C;ENST00000589332:exon4:c.562+2T>C)	synonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.T564C:p.G188G;	0.999928441764609	0.812
18	32953418	A	T	18	35373454	y	n	splicing	ZNF396(NM_145756:exon4:c.562+2T>A)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon4:c.562+2T>A;ENST00000589332:exon4:c.562+2T>A)	synonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.T564A:p.G188G;	0.999962958601995	0.834
18	32953419	C	A	18	35373455	y	n	splicing	ZNF396(NM_145756:exon4:c.562+1G>T)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon4:c.562+1G>T;ENST00000589332:exon4:c.562+1G>T)	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G563T:p.G188V;	0.99992954197075	0.746
18	32953419	C	G	18	35373455	y	n	splicing	ZNF396(NM_145756:exon4:c.562+1G>C)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon4:c.562+1G>C;ENST00000589332:exon4:c.562+1G>C)	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G563C:p.G188A;	0.99992954197075	0.75
18	32953419	C	T	18	35373455	y	n	splicing	ZNF396(NM_145756:exon4:c.562+1G>A)	.	.	exonic;splicing	ENSG00000186496;ENSG00000186496(ENST00000306346:exon4:c.562+1G>A;ENST00000589332:exon4:c.562+1G>A)	nonsynonymous SNV	ENSG00000186496:ENST00000586687:exon3:c.G563A:p.G188D;	0.99992954197075	0.746
18	32953420	C	A	18	35373456	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.G562T:p.D188Y;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.G562T:p.D188Y;ENSG00000186496:ENST00000306346:exon3:c.G562T:p.D188Y;ENSG00000186496:ENST00000586687:exon3:c.G562T:p.G188C;	0.999792105790466	0.92
18	32953420	C	G	18	35373456	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.G562C:p.D188H;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.G562C:p.D188H;ENSG00000186496:ENST00000306346:exon3:c.G562C:p.D188H;ENSG00000186496:ENST00000586687:exon3:c.G562C:p.G188R;	0.999885521950055	0.968
18	32953420	C	T	18	35373456	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.G562A:p.D188N;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.G562A:p.D188N;ENSG00000186496:ENST00000306346:exon3:c.G562A:p.D188N;ENSG00000186496:ENST00000586687:exon3:c.G562A:p.G188S;	0.99995118879999	1.0
18	32953421	A	C	18	35373457	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.T561G:p.H187Q;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.T561G:p.H187Q;ENSG00000186496:ENST00000306346:exon3:c.T561G:p.H187Q;ENSG00000186496:ENST00000586687:exon3:c.T561G:p.H187Q;	4.17897508485994E-5	0.004
18	32953421	A	G	18	35373457	y	n	exonic	ZNF396	synonymous SNV	ZNF396:NM_145756:exon3:c.T561C:p.H187H;	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.T561C:p.H187H;ENSG00000186496:ENST00000306346:exon3:c.T561C:p.H187H;ENSG00000186496:ENST00000586687:exon3:c.T561C:p.H187H;	2.94707337415805E-5	0.0
18	32953421	A	T	18	35373457	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.T561A:p.H187Q;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.T561A:p.H187Q;ENSG00000186496:ENST00000306346:exon3:c.T561A:p.H187Q;ENSG00000186496:ENST00000586687:exon3:c.T561A:p.H187Q;	4.5360838205396E-5	0.082
18	32953422	T	A	18	35373458	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.A560T:p.H187L;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.A560T:p.H187L;ENSG00000186496:ENST00000306346:exon3:c.A560T:p.H187L;ENSG00000186496:ENST00000586687:exon3:c.A560T:p.H187L;	0.00115044915080164	0.068
18	32953422	T	C	18	35373458	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.A560G:p.H187R;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.A560G:p.H187R;ENSG00000186496:ENST00000306346:exon3:c.A560G:p.H187R;ENSG00000186496:ENST00000586687:exon3:c.A560G:p.H187R;	9.54596709948702E-4	0.044
18	32953422	T	G	18	35373458	y	n	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.A560C:p.H187P;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.A560C:p.H187P;ENSG00000186496:ENST00000306346:exon3:c.A560C:p.H187P;ENSG00000186496:ENST00000586687:exon3:c.A560C:p.H187P;	9.35055856359392E-5	0.004
18	32953563	A	C	18	35373599	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.T419G:p.I140S;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.T419G:p.I140S;ENSG00000186496:ENST00000306346:exon3:c.T419G:p.I140S;ENSG00000186496:ENST00000586687:exon3:c.T419G:p.I140S;	0.0107484762740507	0.112
18	32953563	A	G	18	35373599	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.T419C:p.I140T;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.T419C:p.I140T;ENSG00000186496:ENST00000306346:exon3:c.T419C:p.I140T;ENSG00000186496:ENST00000586687:exon3:c.T419C:p.I140T;	0.00203112233755448	0.07
18	32953563	A	T	18	35373599	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.T419A:p.I140N;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.T419A:p.I140N;ENSG00000186496:ENST00000306346:exon3:c.T419A:p.I140N;ENSG00000186496:ENST00000586687:exon3:c.T419A:p.I140N;	0.00685493591104282	0.082
18	32953564	T	A	18	35373600	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.A418T:p.I140F;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.A418T:p.I140F;ENSG00000186496:ENST00000306346:exon3:c.A418T:p.I140F;ENSG00000186496:ENST00000586687:exon3:c.A418T:p.I140F;	0.00215794820501953	0.146
18	32953564	T	C	18	35373600	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.A418G:p.I140V;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.A418G:p.I140V;ENSG00000186496:ENST00000306346:exon3:c.A418G:p.I140V;ENSG00000186496:ENST00000586687:exon3:c.A418G:p.I140V;	1.8270797707606E-5	0.006
18	32953564	T	G	18	35373600	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon3:c.A418C:p.I140L;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon3:c.A418C:p.I140L;ENSG00000186496:ENST00000306346:exon3:c.A418C:p.I140L;ENSG00000186496:ENST00000586687:exon3:c.A418C:p.I140L;	4.38531785495488E-4	0.07
18	32953565	C	A	18	35373601	y	y	splicing	ZNF396(NM_145756:exon4:c.418-1G>T)	.	.	splicing	ENSG00000186496(ENST00000306346:exon4:c.418-1G>T;ENST00000589332:exon4:c.418-1G>T;ENST00000586687:exon4:c.418-1G>T)	.	.	0.999938990645747	0.944
18	32953565	C	G	18	35373601	y	y	splicing	ZNF396(NM_145756:exon4:c.418-1G>C)	.	.	splicing	ENSG00000186496(ENST00000306346:exon4:c.418-1G>C;ENST00000589332:exon4:c.418-1G>C;ENST00000586687:exon4:c.418-1G>C)	.	.	0.999960200702261	0.942
18	32953565	C	T	18	35373601	y	y	splicing	ZNF396(NM_145756:exon4:c.418-1G>A)	.	.	splicing	ENSG00000186496(ENST00000306346:exon4:c.418-1G>A;ENST00000589332:exon4:c.418-1G>A;ENST00000586687:exon4:c.418-1G>A)	.	.	0.999938990645747	0.936
18	32953566	T	A	18	35373602	y	y	splicing	ZNF396(NM_145756:exon4:c.418-2A>T)	.	.	splicing	ENSG00000186496(ENST00000306346:exon4:c.418-2A>T;ENST00000589332:exon4:c.418-2A>T;ENST00000586687:exon4:c.418-2A>T)	.	.	0.9999784785434	0.938
18	32953566	T	C	18	35373602	y	y	splicing	ZNF396(NM_145756:exon4:c.418-2A>G)	.	.	splicing	ENSG00000186496(ENST00000306346:exon4:c.418-2A>G;ENST00000589332:exon4:c.418-2A>G;ENST00000586687:exon4:c.418-2A>G)	.	.	0.999988510283643	0.934
18	32953566	T	G	18	35373602	y	y	splicing	ZNF396(NM_145756:exon4:c.418-2A>C)	.	.	splicing	ENSG00000186496(ENST00000306346:exon4:c.418-2A>C;ENST00000589332:exon4:c.418-2A>C;ENST00000586687:exon4:c.418-2A>C)	.	.	0.999988510283643	0.934
18	32953567	A	C	18	35373603	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.903485393426693	0.662
18	32953567	A	G	18	35373603	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.81229975096671E-5	0.002
18	32953567	A	T	18	35373603	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00127739922235587	0.066
18	32953568	A	C	18	35373604	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.90240018920961E-4	0.004
18	32953568	A	G	18	35373604	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.17065600764061E-5	0.006
18	32953568	A	T	18	35373604	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.79389000165085E-4	0.022
18	32953569	A	C	18	35373605	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.863746002183348	0.576
18	32953569	A	G	18	35373605	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.86840184567028E-4	0.024
18	32953569	A	T	18	35373605	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.762527311260579	0.558
18	32953570	A	C	18	35373606	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0695500894238631	0.278
18	32953570	A	G	18	35373606	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.3291458683567E-4	0.002
18	32953570	A	T	18	35373606	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.130451050137173	0.252
18	32953571	A	C	18	35373607	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.78272856878735E-4	0.068
18	32953571	A	G	18	35373607	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.39509891956768E-5	0.002
18	32953571	A	T	18	35373607	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.54924553259102E-4	0.082
18	32953572	C	A	18	35373608	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.05156065868424E-5	0.01
18	32953572	C	G	18	35373608	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.16205174742858E-5	0.006
18	32953572	C	T	18	35373608	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.81190412049665E-5	0.0
18	32953573	A	C	18	35373609	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00342765381041139	0.18
18	32953573	A	G	18	35373609	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.33458589403825E-5	0.0
18	32953573	A	T	18	35373609	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.99969833203683	0.972
18	32953574	G	A	18	35373610	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.7409621592869E-5	0.004
18	32953574	G	C	18	35373610	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.0249659730533E-4	0.026
18	32953574	G	T	18	35373610	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.85494066816989E-4	0.03
18	32953575	G	A	18	35373611	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.30325435910722E-5	0.004
18	32953575	G	C	18	35373611	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.3178835471556E-5	0.028
18	32953575	G	T	18	35373611	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.74550564930619E-4	0.074
18	32953576	A	C	18	35373612	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.31563342197982E-4	0.102
18	32953576	A	G	18	35373612	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.19250750921839E-5	0.0
18	32953576	A	T	18	35373612	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00118080367198408	0.088
18	32953832	C	A	18	35373868	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.73698570755108E-4	0.034
18	32953832	C	G	18	35373868	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.67052698537628E-4	0.03
18	32953832	C	T	18	35373868	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00159768776626643	0.03
18	32953833	T	A	18	35373869	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.20995906802735E-5	0.024
18	32953833	T	C	18	35373869	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.77457243820827E-5	0.0
18	32953833	T	G	18	35373869	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.77457243820827E-5	0.0
18	32953834	T	A	18	35373870	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.33967212747601E-5	0.012
18	32953834	T	C	18	35373870	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.26648013658177E-5	0.002
18	32953834	T	G	18	35373870	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.05460838499611E-4	0.01
18	32953835	C	A	18	35373871	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.245529475543905	0.42
18	32953835	C	G	18	35373871	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.392519564035821	0.442
18	32953835	C	T	18	35373871	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.760964424621215	0.468
18	32953836	T	A	18	35373872	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.141330382357625	0.396
18	32953836	T	C	18	35373872	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.15812867531994	0.444
18	32953836	T	G	18	35373872	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.105822022618786	0.368
18	32953837	T	A	18	35373873	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.504377454602905	0.552
18	32953837	T	C	18	35373873	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.6084711569147E-4	0.092
18	32953837	T	G	18	35373873	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.521462571464535	0.594
18	32953838	A	C	18	35373874	y	y	splicing	ZNF396(NM_145756:exon3:c.417+2T>G)	.	.	splicing	ENSG00000186496(ENST00000306346:exon3:c.417+2T>G;ENST00000589332:exon3:c.417+2T>G;ENST00000586687:exon3:c.417+2T>G)	.	.	0.999989378869813	0.76
18	32953838	A	G	18	35373874	y	y	splicing	ZNF396(NM_145756:exon3:c.417+2T>C)	.	.	splicing	ENSG00000186496(ENST00000306346:exon3:c.417+2T>C;ENST00000589332:exon3:c.417+2T>C;ENST00000586687:exon3:c.417+2T>C)	.	.	0.900075261276279	0.462
18	32953838	A	T	18	35373874	y	y	splicing	ZNF396(NM_145756:exon3:c.417+2T>A)	.	.	splicing	ENSG00000186496(ENST00000306346:exon3:c.417+2T>A;ENST00000589332:exon3:c.417+2T>A;ENST00000586687:exon3:c.417+2T>A)	.	.	0.999984399620937	0.758
18	32953839	C	A	18	35373875	y	y	splicing	ZNF396(NM_145756:exon3:c.417+1G>T)	.	.	splicing	ENSG00000186496(ENST00000306346:exon3:c.417+1G>T;ENST00000589332:exon3:c.417+1G>T;ENST00000586687:exon3:c.417+1G>T)	.	.	0.999855606898996	0.73
18	32953839	C	G	18	35373875	y	y	splicing	ZNF396(NM_145756:exon3:c.417+1G>C)	.	.	splicing	ENSG00000186496(ENST00000306346:exon3:c.417+1G>C;ENST00000589332:exon3:c.417+1G>C;ENST00000586687:exon3:c.417+1G>C)	.	.	0.999855606898996	0.73
18	32953839	C	T	18	35373875	y	y	splicing	ZNF396(NM_145756:exon3:c.417+1G>A)	.	.	splicing	ENSG00000186496(ENST00000306346:exon3:c.417+1G>A;ENST00000589332:exon3:c.417+1G>A;ENST00000586687:exon3:c.417+1G>A)	.	.	0.999855606898996	0.732
18	32953840	C	A	18	35373876	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon2:c.G417T:p.Q139H;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon2:c.G417T:p.Q139H;ENSG00000186496:ENST00000306346:exon2:c.G417T:p.Q139H;ENSG00000186496:ENST00000586687:exon2:c.G417T:p.Q139H;	0.982529781584368	0.752
18	32953840	C	G	18	35373876	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon2:c.G417C:p.Q139H;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon2:c.G417C:p.Q139H;ENSG00000186496:ENST00000306346:exon2:c.G417C:p.Q139H;ENSG00000186496:ENST00000586687:exon2:c.G417C:p.Q139H;	0.971803502879688	0.618
18	32953840	C	T	18	35373876	y	y	exonic	ZNF396	synonymous SNV	ZNF396:NM_145756:exon2:c.G417A:p.Q139Q;	exonic	ENSG00000186496	synonymous SNV	ENSG00000186496:ENST00000589332:exon2:c.G417A:p.Q139Q;ENSG00000186496:ENST00000306346:exon2:c.G417A:p.Q139Q;ENSG00000186496:ENST00000586687:exon2:c.G417A:p.Q139Q;	0.615662008631648	0.548
18	32953841	T	A	18	35373877	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon2:c.A416T:p.Q139L;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon2:c.A416T:p.Q139L;ENSG00000186496:ENST00000306346:exon2:c.A416T:p.Q139L;ENSG00000186496:ENST00000586687:exon2:c.A416T:p.Q139L;	0.471036022570782	0.372
18	32953841	T	C	18	35373877	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon2:c.A416G:p.Q139R;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon2:c.A416G:p.Q139R;ENSG00000186496:ENST00000306346:exon2:c.A416G:p.Q139R;ENSG00000186496:ENST00000586687:exon2:c.A416G:p.Q139R;	0.23024877763789	0.33
18	32953841	T	G	18	35373877	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon2:c.A416C:p.Q139P;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon2:c.A416C:p.Q139P;ENSG00000186496:ENST00000306346:exon2:c.A416C:p.Q139P;ENSG00000186496:ENST00000586687:exon2:c.A416C:p.Q139P;	0.643811108926992	0.618
18	32953842	G	A	18	35373878	y	y	exonic	ZNF396	stopgain SNV	ZNF396:NM_145756:exon2:c.C415T:p.Q139X;	exonic	ENSG00000186496	stopgain SNV	ENSG00000186496:ENST00000589332:exon2:c.C415T:p.Q139X;ENSG00000186496:ENST00000306346:exon2:c.C415T:p.Q139X;ENSG00000186496:ENST00000586687:exon2:c.C415T:p.Q139X;	0.915939997257993	0.572
18	32953842	G	C	18	35373878	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon2:c.C415G:p.Q139E;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon2:c.C415G:p.Q139E;ENSG00000186496:ENST00000306346:exon2:c.C415G:p.Q139E;ENSG00000186496:ENST00000586687:exon2:c.C415G:p.Q139E;	8.14764936634938E-4	0.092
18	32953842	G	T	18	35373878	y	y	exonic	ZNF396	nonsynonymous SNV	ZNF396:NM_145756:exon2:c.C415A:p.Q139K;	exonic	ENSG00000186496	nonsynonymous SNV	ENSG00000186496:ENST00000589332:exon2:c.C415A:p.Q139K;ENSG00000186496:ENST00000306346:exon2:c.C415A:p.Q139K;ENSG00000186496:ENST00000586687:exon2:c.C415A:p.Q139K;	6.02857922981949E-4	0.094
18	32954327	T	A	18	35374363	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	4.72157260881482E-5	0.038
18	32954327	T	C	18	35374363	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	6.69020799245575E-5	0.03
18	32954327	T	G	18	35374363	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	9.07995974021236E-5	0.026
18	32954328	C	A	18	35374364	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.953621204326273	0.762
18	32954328	C	G	18	35374364	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.682232456493874	0.738
18	32954328	C	T	18	35374364	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.751130471839731	0.632
18	32954329	C	A	18	35374365	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999970049525196	0.688
18	32954329	C	G	18	35374365	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999970049525196	0.682
18	32954329	C	T	18	35374365	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999970049525196	0.712
18	32954330	T	A	18	35374366	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.998832515384292	0.682
18	32954330	T	C	18	35374366	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.998754256600127	0.654
18	32954330	T	G	18	35374366	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.998754256600127	0.654
18	32954331	T	A	18	35374367	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.40075394191218E-4	0.046
18	32954331	T	C	18	35374367	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.002357119016105	0.176
18	32954331	T	G	18	35374367	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.52488505972835E-4	0.098
18	32954332	A	C	18	35374368	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00360307440604778	0.076
18	32954332	A	G	18	35374368	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.74974920695614E-4	0.084
18	32954332	A	T	18	35374368	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00465320475013437	0.044
18	32954333	A	C	18	35374369	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.9964500670935	0.772
18	32954333	A	G	18	35374369	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0551824154895735	0.302
18	32954333	A	T	18	35374369	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.985436139388792	0.768
18	32954334	A	C	18	35374370	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.999965072496091	0.97
18	32954334	A	G	18	35374370	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00131257911914623	0.12
18	32954334	A	T	18	35374370	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.67245140747361	0.668
18	32954335	T	A	18	35374371	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.80799955852729E-4	0.042
18	32954335	T	C	18	35374371	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.10145512824468E-4	0.044
18	32954335	T	G	18	35374371	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.37850316264128E-5	0.022
18	32954336	A	C	18	35374372	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.99994481648249	0.982
18	32954336	A	G	18	35374372	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.39816990328212E-4	0.036
18	32954336	A	T	18	35374372	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.179669625957465	0.354
18	32954337	T	A	18	35374373	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.10725041400541E-5	0.052
18	32954337	T	C	18	35374373	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.43817141914101E-5	0.036
18	32954337	T	G	18	35374373	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.19637252472497E-5	0.038
18	32954338	G	A	18	35374374	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.56120247739928E-5	0.032
18	32954338	G	C	18	35374374	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00301106880858162	0.124
18	32954338	G	T	18	35374374	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0012118321475532	0.052
18	32954339	A	C	18	35374375	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.999961126216994	0.98
18	32954339	A	G	18	35374375	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.927778995159779	0.616
18	32954339	A	T	18	35374375	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.999470415590617	0.944
18	32954340	T	A	18	35374376	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.97581046337011E-5	0.13
18	32954340	T	C	18	35374376	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.991005220486598	0.896
18	32954340	T	G	18	35374376	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.14218275299787E-5	0.104
18	32954426	C	A	18	35374462	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.89925739660516E-5	0.006
18	32954426	C	G	18	35374462	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.31929338280547E-5	0.006
18	32954426	C	T	18	35374462	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.89925739660516E-5	0.006
18	32954427	T	A	18	35374463	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.0
18	32954427	T	C	18	35374463	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.002
18	32954427	T	G	18	35374463	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.002
18	32954428	A	C	18	35374464	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.98902375906994E-5	0.0
18	32954428	A	G	18	35374464	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.98902375906994E-5	0.0
18	32954428	A	T	18	35374464	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.98902375906994E-5	0.0
18	32954429	C	A	18	35374465	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.6128894829304E-5	0.002
18	32954429	C	G	18	35374465	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.6128894829304E-5	0.002
18	32954429	C	T	18	35374465	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.6128894829304E-5	0.002
18	32954430	T	A	18	35374466	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.004
18	32954430	T	C	18	35374466	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.006
18	32954430	T	G	18	35374466	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.006
18	32954431	G	A	18	35374467	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.05089878083976E-4	0.006
18	32954431	G	C	18	35374467	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.05606112543448E-5	0.0
18	32954431	G	T	18	35374467	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.05606112543448E-5	0.006
18	32954432	A	C	18	35374468	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	6.90457231521222E-6	0.004
18	32954432	A	G	18	35374468	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	6.90457231521222E-6	0.004
18	32954432	A	T	18	35374468	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	6.90457231521222E-6	0.008
18	32954433	C	A	18	35374469	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	4.68952365742707E-5	0.004
18	32954433	C	G	18	35374469	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	4.68952365742707E-5	0.004
18	32954433	C	T	18	35374469	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	3.88563338073588E-5	0.004
18	32954434	C	A	18	35374470	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	3.02642503822698E-5	0.002
18	32954434	C	G	18	35374470	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	3.02642503822698E-5	0.004
18	32954434	C	T	18	35374470	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	3.02642503822698E-5	0.002
18	32954435	T	A	18	35374471	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	1.95242954520313E-5	0.0
18	32954435	T	C	18	35374471	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	1.95242954520313E-5	0.002
18	32954435	T	G	18	35374471	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	1.95242954520313E-5	0.002
18	32954436	T	A	18	35374472	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.00388565165388103	0.024
18	32954436	T	C	18	35374472	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.00268390561266376	0.024
18	32954436	T	G	18	35374472	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.00268390561266376	0.022
18	32954786	T	A	18	35374822	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	6.44366834656947E-5	0.0
18	32954786	T	C	18	35374822	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	6.21978182991299E-5	0.0
18	32954786	T	G	18	35374822	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	6.21978182991299E-5	0.0
18	32954787	T	A	18	35374823	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	8.24824353344448E-5	0.004
18	32954787	T	C	18	35374823	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	8.24824353344448E-5	0.0
18	32954787	T	G	18	35374823	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	8.24824353344448E-5	0.0
18	32954788	C	A	18	35374824	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	9.0277112571666E-4	0.016
18	32954788	C	G	18	35374824	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	4.86784168332526E-4	0.016
18	32954788	C	T	18	35374824	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	9.0277112571666E-4	0.016
18	32954789	T	A	18	35374825	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	2.6128894829304E-5	0.0
18	32954789	T	C	18	35374825	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	2.6128894829304E-5	0.0
18	32954789	T	G	18	35374825	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	2.6128894829304E-5	0.0
18	32954790	T	A	18	35374826	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.49702646665041E-5	0.004
18	32954790	T	C	18	35374826	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.08802802279601E-5	0.004
18	32954790	T	G	18	35374826	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.08802802279601E-5	0.004
18	32954791	T	A	18	35374827	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.4076558401562E-4	0.002
18	32954791	T	C	18	35374827	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.08739841361144E-4	0.002
18	32954791	T	G	18	35374827	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.08739841361144E-4	0.002
18	32954792	A	C	18	35374828	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00177780133235394	0.008
18	32954792	A	G	18	35374828	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00177780133235394	0.008
18	32954792	A	T	18	35374828	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00227696397200993	0.008
18	32954793	A	C	18	35374829	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.72841159385093E-5	0.0
18	32954793	A	G	18	35374829	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.72841159385093E-5	0.0
18	32954793	A	T	18	35374829	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.72841159385093E-5	0.0
18	32954794	G	A	18	35374830	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.38047987314901E-5	0.002
18	32954794	G	C	18	35374830	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.36106780005268E-5	0.004
18	32954794	G	T	18	35374830	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.38047987314901E-5	0.002
18	32954795	A	C	18	35374831	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0022969856576972	0.036
18	32954795	A	G	18	35374831	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.0022969856576972	0.036
18	32954795	A	T	18	35374831	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00159196206365334	0.04
18	32954796	G	A	18	35374832	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.4916954340738E-4	0.006
18	32954796	G	C	18	35374832	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.11159464097565E-5	0.004
18	32954796	G	T	18	35374832	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.06021162418853E-4	0.004
18	32954797	A	C	18	35374833	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00435466241603455	0.022
18	32954797	A	G	18	35374833	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00435466241603455	0.022
18	32954797	A	T	18	35374833	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00430955476585136	0.026
18	32954798	A	C	18	35374834	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.58387015427962E-5	0.0
18	32954798	A	G	18	35374834	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.58387015427962E-5	0.0
18	32954798	A	T	18	35374834	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.26351819982407E-5	0.0
18	32954799	C	A	18	35374835	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00112860188305749	0.0
18	32954799	C	G	18	35374835	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00112860188305749	0.014
18	32954799	C	T	18	35374835	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.90960333523333E-4	0.002
18	32956083	A	C	18	35376119	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.02156764115319E-4	0.004
18	32956083	A	G	18	35376119	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.02156764115319E-4	0.004
18	32956083	A	T	18	35376119	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.02156764115319E-4	0.004
18	32956084	A	C	18	35376120	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.46958351375406E-5	0.0
18	32956084	A	G	18	35376120	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.46958351375406E-5	0.0
18	32956084	A	T	18	35376120	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.36340088948343E-5	0.0
18	32956085	T	A	18	35376121	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.06619588578661E-5	0.006
18	32956085	T	C	18	35376121	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.36187558740154E-5	0.004
18	32956085	T	G	18	35376121	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.36187558740154E-5	0.004
18	32956086	C	A	18	35376122	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.72760553213487E-5	0.0
18	32956086	C	G	18	35376122	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.72760553213487E-5	0.0
18	32956086	C	T	18	35376122	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	9.72760553213487E-5	0.01
18	32956087	T	A	18	35376123	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.53292460361593E-5	0.008
18	32956087	T	C	18	35376123	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.10529984002121E-5	0.0
18	32956087	T	G	18	35376123	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.10529984002121E-5	0.0
18	32956088	T	A	18	35376124	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.78864525412067E-5	0.0
18	32956088	T	C	18	35376124	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.78864525412067E-5	0.0
18	32956088	T	G	18	35376124	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.78864525412067E-5	0.0
18	32956089	A	C	18	35376125	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	3.07620641825897E-5	0.0
18	32956089	A	G	18	35376125	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	3.07620641825897E-5	0.0
18	32956089	A	T	18	35376125	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	3.31929338280547E-5	0.0
18	32956090	C	A	18	35376126	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	1.08788427788342E-5	0.0
18	32956090	C	G	18	35376126	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	1.08788427788342E-5	0.0
18	32956090	C	T	18	35376126	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	1.08788427788342E-5	0.0
18	32956091	G	A	18	35376127	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	2.45277156108894E-5	0.0
18	32956091	G	C	18	35376127	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	2.45277156108894E-5	0.0
18	32956091	G	T	18	35376127	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	2.45277156108894E-5	0.0
18	32956092	T	A	18	35376128	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	6.4243997895107E-5	0.006
18	32956092	T	C	18	35376128	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	6.4243997895107E-5	0.006
18	32956092	T	G	18	35376128	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	6.4243997895107E-5	0.008
18	32956093	G	A	18	35376129	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	1.46004206284423E-5	0.0
18	32956093	G	C	18	35376129	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	1.46004206284423E-5	0.0
18	32956093	G	T	18	35376129	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	1.46004206284423E-5	0.0
18	32956233	T	A	18	35376269	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	5.15941453541388E-5	0.002
18	32956233	T	C	18	35376269	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	5.15941453541388E-5	0.002
18	32956233	T	G	18	35376269	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	5.15941453541388E-5	0.002
18	32956234	G	A	18	35376270	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	5.65959444057763E-5	0.012
18	32956234	G	C	18	35376270	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	5.65959444057763E-5	0.012
18	32956234	G	T	18	35376270	n	y	intronic	ZNF396	.	.	UTR5	ENSG00000186496	.	.	5.65959444057763E-5	0.012
18	32956235	C	A	18	35376271	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	6.08692400722682E-5	0.0
18	32956235	C	G	18	35376271	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	6.08692400722682E-5	0.0
18	32956235	C	T	18	35376271	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	6.08692400722682E-5	0.0
18	32956236	T	A	18	35376272	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	3.39529611572298E-5	0.004
18	32956236	T	C	18	35376272	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	3.39529611572298E-5	0.004
18	32956236	T	G	18	35376272	n	y	intronic	ZNF396	.	.	splicing	ENSG00000186496	.	.	3.39529611572298E-5	0.004
18	32956237	A	C	18	35376273	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.12967705479703E-5	0.002
18	32956237	A	G	18	35376273	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.12967705479703E-5	0.002
18	32956237	A	T	18	35376273	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.12967705479703E-5	0.002
18	32956238	T	A	18	35376274	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.60578370355274E-6	0.0
18	32956238	T	C	18	35376274	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.97552862615456E-6	0.0
18	32956238	T	G	18	35376274	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.97552862615456E-6	0.0
18	32956239	G	A	18	35376275	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.57076726553018E-5	0.0
18	32956239	G	C	18	35376275	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.57076726553018E-5	0.0
18	32956239	G	T	18	35376275	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.57076726553018E-5	0.0
18	32956240	A	C	18	35376276	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.91564032431422E-5	0.0
18	32956240	A	G	18	35376276	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	6.91564032431422E-5	0.0
18	32956240	A	T	18	35376276	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.15267776820636E-5	0.0
18	32956241	A	C	18	35376277	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.49702646665041E-5	0.004
18	32956241	A	G	18	35376277	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.49702646665041E-5	0.004
18	32956241	A	T	18	35376277	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	8.49702646665041E-5	0.006
18	32956242	A	C	18	35376278	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.004
18	32956242	A	G	18	35376278	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.004
18	32956242	A	T	18	35376278	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.15941453541388E-5	0.004
18	32956243	C	A	18	35376279	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.52881759733747E-5	0.0
18	32956243	C	G	18	35376279	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.00675832680685E-4	0.05
18	32956243	C	T	18	35376279	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	7.52881759733747E-5	0.0
18	32956244	A	C	18	35376280	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.15267776820636E-5	0.0
18	32956244	A	G	18	35376280	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.15267776820636E-5	0.0
18	32956244	A	T	18	35376280	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.15267776820636E-5	0.0
18	32956245	A	C	18	35376281	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00131227968434435	0.01
18	32956245	A	G	18	35376281	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00131227968434435	0.01
18	32956245	A	T	18	35376281	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00168095546394821	0.01
18	32956246	A	C	18	35376282	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.12967705479703E-5	0.004
18	32956246	A	G	18	35376282	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	2.12967705479703E-5	0.002
18	32956246	A	T	18	35376282	n	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.951189346585E-5	0.002
18	32957234	G	A	18	35377270	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	4.84110125997409E-4	0.034
18	32957234	G	C	18	35377270	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.11647364051884E-4	0.008
18	32957234	G	T	18	35377270	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.69465403357523E-4	0.046
18	32957235	G	A	18	35377271	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.43937525001439E-4	0.012
18	32957235	G	C	18	35377271	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	1.70727468404504E-4	0.0
18	32957235	G	T	18	35377271	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	3.07256548728156E-5	0.0
18	32957236	T	A	18	35377272	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00216249655112347	0.048
18	32957236	T	C	18	35377272	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.81864536300649E-4	0.014
18	32957236	T	G	18	35377272	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.00423146177940458	0.118
18	32957237	C	A	18	35377273	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.998607264970509	0.872
18	32957237	C	G	18	35377273	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.982455102679097	0.706
18	32957237	C	T	18	35377273	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.999600525028332	0.912
18	32957238	T	A	18	35377274	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.992643042963468	0.792
18	32957238	T	C	18	35377274	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.994058667647973	0.824
18	32957238	T	G	18	35377274	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.99339261173788	0.828
18	32957239	C	A	18	35377275	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.885773417569913	0.7
18	32957239	C	G	18	35377275	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	0.820002088004297	0.736
18	32957239	C	T	18	35377275	y	y	intronic	ZNF396	.	.	intronic	ENSG00000186496	.	.	5.06945832979871E-4	0.008
18	32957240	A	C	18	35377276	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999982676930816	0.938
18	32957240	A	G	18	35377276	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999908817867984	0.902
18	32957240	A	T	18	35377276	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999982676930816	0.928
18	32957241	C	A	18	35377277	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999967001206676	0.94
18	32957241	C	G	18	35377277	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999967001206676	0.944
18	32957241	C	T	18	35377277	y	y	splicing	ZNF396	.	.	splicing	ENSG00000186496	.	.	0.999967001206676	0.94
18	32957242	C	A	18	35377278	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.998716619647145	0.928
18	32957242	C	G	18	35377278	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.999749579019631	0.946
18	32957242	C	T	18	35377278	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.998725212236651	0.98
18	32957243	T	A	18	35377279	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.999249655322856	0.962
18	32957243	T	C	18	35377279	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.999026984510448	0.96
18	32957243	T	G	18	35377279	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.990959095083133	0.874
18	32957244	C	A	18	35377280	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	0.0229895367038947	0.222
18	32957244	C	G	18	35377280	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	4.52983029010874E-4	0.012
18	32957244	C	T	18	35377280	y	y	UTR5	ZNF396	.	.	UTR5	ENSG00000186496	.	.	2.29191137784788E-4	0.0
18	33048705	G	A	18	35468741	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon7:c.C557T:p.A186V;INO80C:NM_194281:exon5:c.C449T:p.A150V;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon7:c.C557T:p.A186V;ENSG00000153391:ENST00000334598:exon5:c.C449T:p.A150V;ENSG00000153391:ENST00000587450:exon3:c.C226T:p.P76S;ENSG00000153391:ENST00000590757:exon2:c.C158T:p.A53V;ENSG00000153391:ENST00000586489:exon5:c.C284T:p.A95V;	0.985511146849317	0.872
18	33048705	G	C	18	35468741	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon7:c.C557G:p.A186G;INO80C:NM_194281:exon5:c.C449G:p.A150G;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon7:c.C557G:p.A186G;ENSG00000153391:ENST00000334598:exon5:c.C449G:p.A150G;ENSG00000153391:ENST00000587450:exon3:c.C226G:p.P76A;ENSG00000153391:ENST00000590757:exon2:c.C158G:p.A53G;ENSG00000153391:ENST00000586489:exon5:c.C284G:p.A95G;	0.977763640090667	0.68
18	33048705	G	T	18	35468741	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon7:c.C557A:p.A186D;INO80C:NM_194281:exon5:c.C449A:p.A150D;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon7:c.C557A:p.A186D;ENSG00000153391:ENST00000334598:exon5:c.C449A:p.A150D;ENSG00000153391:ENST00000587450:exon3:c.C226A:p.P76T;ENSG00000153391:ENST00000590757:exon2:c.C158A:p.A53D;ENSG00000153391:ENST00000586489:exon5:c.C284A:p.A95D;	0.983676649171651	0.854
18	33048706	C	A	18	35468742	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon7:c.G556T:p.A186S;INO80C:NM_194281:exon5:c.G448T:p.A150S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon7:c.G556T:p.A186S;ENSG00000153391:ENST00000334598:exon5:c.G448T:p.A150S;ENSG00000153391:ENST00000587450:exon3:c.G225T:p.L75F;ENSG00000153391:ENST00000590757:exon2:c.G157T:p.A53S;ENSG00000153391:ENST00000586489:exon5:c.G283T:p.A95S;	0.998177996803212	0.984
18	33048706	C	G	18	35468742	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon7:c.G556C:p.A186P;INO80C:NM_194281:exon5:c.G448C:p.A150P;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon7:c.G556C:p.A186P;ENSG00000153391:ENST00000334598:exon5:c.G448C:p.A150P;ENSG00000153391:ENST00000587450:exon3:c.G225C:p.L75F;ENSG00000153391:ENST00000590757:exon2:c.G157C:p.A53P;ENSG00000153391:ENST00000586489:exon5:c.G283C:p.A95P;	0.999280483064962	0.978
18	33048706	C	T	18	35468742	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon7:c.G556A:p.A186T;INO80C:NM_194281:exon5:c.G448A:p.A150T;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon7:c.G556A:p.A186T;ENSG00000153391:ENST00000334598:exon5:c.G448A:p.A150T;ENSG00000153391:ENST00000590757:exon2:c.G157A:p.A53T;ENSG00000153391:ENST00000586489:exon5:c.G283A:p.A95T;	0.990806990359794	0.794
18	33048707	C	A	18	35468743	y	y	splicing	INO80C(NM_194281:exon6:c.448-1G>T;NM_001098817:exon8:c.556-1G>T)	.	.	splicing	ENSG00000153391(ENST00000334598:exon6:c.448-1G>T;ENST00000590757:exon3:c.157-1G>T;ENST00000441607:exon8:c.556-1G>T;ENST00000586489:exon6:c.283-1G>T;ENST00000587450:exon4:c.225-1G>T;ENST00000591139:exon6:c.377-1G>T)	.	.	0.999986675681007	0.934
18	33048707	C	G	18	35468743	y	y	splicing	INO80C(NM_194281:exon6:c.448-1G>C;NM_001098817:exon8:c.556-1G>C)	.	.	splicing	ENSG00000153391(ENST00000334598:exon6:c.448-1G>C;ENST00000590757:exon3:c.157-1G>C;ENST00000441607:exon8:c.556-1G>C;ENST00000586489:exon6:c.283-1G>C;ENST00000587450:exon4:c.225-1G>C;ENST00000591139:exon6:c.377-1G>C)	.	.	0.999986675681007	0.934
18	33048707	C	T	18	35468743	y	y	splicing	INO80C(NM_194281:exon6:c.448-1G>A;NM_001098817:exon8:c.556-1G>A)	.	.	splicing	ENSG00000153391(ENST00000334598:exon6:c.448-1G>A;ENST00000590757:exon3:c.157-1G>A;ENST00000441607:exon8:c.556-1G>A;ENST00000586489:exon6:c.283-1G>A;ENST00000587450:exon4:c.225-1G>A;ENST00000591139:exon6:c.377-1G>A)	.	.	0.999986675681007	0.934
18	33048708	T	A	18	35468744	y	y	splicing	INO80C(NM_194281:exon6:c.448-2A>T;NM_001098817:exon8:c.556-2A>T)	.	.	splicing	ENSG00000153391(ENST00000334598:exon6:c.448-2A>T;ENST00000590757:exon3:c.157-2A>T;ENST00000441607:exon8:c.556-2A>T;ENST00000586489:exon6:c.283-2A>T;ENST00000587450:exon4:c.225-2A>T;ENST00000591139:exon6:c.377-2A>T)	.	.	0.999990155693597	0.926
18	33048708	T	C	18	35468744	y	y	splicing	INO80C(NM_194281:exon6:c.448-2A>G;NM_001098817:exon8:c.556-2A>G)	.	.	splicing	ENSG00000153391(ENST00000334598:exon6:c.448-2A>G;ENST00000590757:exon3:c.157-2A>G;ENST00000441607:exon8:c.556-2A>G;ENST00000586489:exon6:c.283-2A>G;ENST00000587450:exon4:c.225-2A>G;ENST00000591139:exon6:c.377-2A>G)	.	.	0.999990155693597	0.926
18	33048708	T	G	18	35468744	y	y	splicing	INO80C(NM_194281:exon6:c.448-2A>C;NM_001098817:exon8:c.556-2A>C)	.	.	splicing	ENSG00000153391(ENST00000334598:exon6:c.448-2A>C;ENST00000590757:exon3:c.157-2A>C;ENST00000441607:exon8:c.556-2A>C;ENST00000586489:exon6:c.283-2A>C;ENST00000587450:exon4:c.225-2A>C;ENST00000591139:exon6:c.377-2A>C)	.	.	0.999990155693597	0.926
18	33048709	G	A	18	35468745	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00959344553243153	0.22
18	33048709	G	C	18	35468745	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999168251945415	0.95
18	33048709	G	T	18	35468745	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.960924195748119	0.722
18	33048710	G	A	18	35468746	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.65801973821186E-5	0.014
18	33048710	G	C	18	35468746	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.09086877212449E-5	0.012
18	33048710	G	T	18	35468746	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.30723567324787E-5	0.014
18	33048711	G	A	18	35468747	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.01950455917293E-4	0.004
18	33048711	G	C	18	35468747	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999540139262413	0.97
18	33048711	G	T	18	35468747	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00141809463894874	0.092
18	33048712	T	A	18	35468748	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.21490477094371E-5	0.0
18	33048712	T	C	18	35468748	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.1795858602789E-5	0.002
18	33048712	T	G	18	35468748	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.45651510496788E-5	0.01
18	33048713	G	A	18	35468749	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.99844342946969E-4	0.028
18	33048713	G	C	18	35468749	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00378244366078435	0.138
18	33048713	G	T	18	35468749	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0058754818973882	0.18
18	33048714	A	C	18	35468750	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.58252484506423E-4	0.068
18	33048714	A	G	18	35468750	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.23134296695635E-5	0.0
18	33048714	A	T	18	35468750	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.50068877620394E-4	0.04
18	33048715	A	C	18	35468751	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00846773337153013	0.154
18	33048715	A	G	18	35468751	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.29297904666001E-4	0.03
18	33048715	A	T	18	35468751	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00471673128666603	0.206
18	33048716	A	C	18	35468752	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00111213973762518	0.142
18	33048716	A	G	18	35468752	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.42565227681147E-4	0.036
18	33048716	A	T	18	35468752	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00835479498341706	0.13
18	33048717	A	C	18	35468753	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00117682659418481	0.082
18	33048717	A	G	18	35468753	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.33912120459536E-4	0.032
18	33048717	A	T	18	35468753	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0017323355059853	0.114
18	33048718	G	A	18	35468754	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.34184647009742E-5	0.0
18	33048718	G	C	18	35468754	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	8.70517494419617E-5	0.008
18	33048718	G	T	18	35468754	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.39579109984764E-4	0.058
18	33058238	A	C	18	35478274	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.84812495074393E-4	0.056
18	33058238	A	G	18	35478274	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.29000698370475E-4	0.0
18	33058238	A	T	18	35478274	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.94970511935343E-4	0.02
18	33058239	T	A	18	35478275	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00537308794537478	0.104
18	33058239	T	C	18	35478275	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00419157138581488	0.11
18	33058239	T	G	18	35478275	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00190727981759279	0.01
18	33058240	A	C	18	35478276	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.991810268563474	0.838
18	33058240	A	G	18	35478276	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.994113357006226	0.91
18	33058240	A	T	18	35478276	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.998766337535046	0.814
18	33058241	C	A	18	35478277	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999970535582097	0.916
18	33058241	C	G	18	35478277	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999978303897212	0.962
18	33058241	C	T	18	35478277	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999977651250761	0.994
18	33058242	T	A	18	35478278	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999603914037455	0.938
18	33058242	T	C	18	35478278	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999452991044664	0.926
18	33058242	T	G	18	35478278	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.997903815884252	0.862
18	33058243	C	A	18	35478279	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.993175716435602	0.49
18	33058243	C	G	18	35478279	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.996526502084835	0.572
18	33058243	C	T	18	35478279	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	8.92217283392507E-5	0.002
18	33058244	A	C	18	35478280	y	y	splicing	INO80C(NM_194281:exon5:c.447+2T>G;NM_001098817:exon7:c.555+2T>G)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.447+2T>G;ENST00000334598:exon5:c.447+2T>G;ENST00000441607:exon7:c.555+2T>G;ENST00000586489:exon5:c.282+2T>G;ENST00000587450:exon3:c.224+2T>G;ENST00000591139:exon5:c.376+2T>G)	.	.	0.999988247793601	0.936
18	33058244	A	G	18	35478280	y	y	splicing	INO80C(NM_194281:exon5:c.447+2T>C;NM_001098817:exon7:c.555+2T>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.447+2T>C;ENST00000334598:exon5:c.447+2T>C;ENST00000441607:exon7:c.555+2T>C;ENST00000586489:exon5:c.282+2T>C;ENST00000587450:exon3:c.224+2T>C;ENST00000591139:exon5:c.376+2T>C)	.	.	0.999929727175276	0.878
18	33058244	A	T	18	35478280	y	y	splicing	INO80C(NM_194281:exon5:c.447+2T>A;NM_001098817:exon7:c.555+2T>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.447+2T>A;ENST00000334598:exon5:c.447+2T>A;ENST00000441607:exon7:c.555+2T>A;ENST00000586489:exon5:c.282+2T>A;ENST00000587450:exon3:c.224+2T>A;ENST00000591139:exon5:c.376+2T>A)	.	.	0.999988247793601	0.936
18	33058245	C	A	18	35478281	y	y	splicing	INO80C(NM_194281:exon5:c.447+1G>T;NM_001098817:exon7:c.555+1G>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.447+1G>T;ENST00000334598:exon5:c.447+1G>T;ENST00000441607:exon7:c.555+1G>T;ENST00000586489:exon5:c.282+1G>T;ENST00000587450:exon3:c.224+1G>T;ENST00000591139:exon5:c.376+1G>T)	.	.	0.999990361384395	0.942
18	33058245	C	G	18	35478281	y	y	splicing	INO80C(NM_194281:exon5:c.447+1G>C;NM_001098817:exon7:c.555+1G>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.447+1G>C;ENST00000334598:exon5:c.447+1G>C;ENST00000441607:exon7:c.555+1G>C;ENST00000586489:exon5:c.282+1G>C;ENST00000587450:exon3:c.224+1G>C;ENST00000591139:exon5:c.376+1G>C)	.	.	0.999990361384395	0.942
18	33058245	C	T	18	35478281	y	y	splicing	INO80C(NM_194281:exon5:c.447+1G>A;NM_001098817:exon7:c.555+1G>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.447+1G>A;ENST00000334598:exon5:c.447+1G>A;ENST00000441607:exon7:c.555+1G>A;ENST00000586489:exon5:c.282+1G>A;ENST00000587450:exon3:c.224+1G>A;ENST00000591139:exon5:c.376+1G>A)	.	.	0.999990361384395	0.942
18	33058246	A	C	18	35478282	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon6:c.T555G:p.L185L;INO80C:NM_194281:exon4:c.T447G:p.L149L;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000587450:exon2:c.T224G:p.L75W;	1.08765243043691E-4	0.024
18	33058246	A	G	18	35478282	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon6:c.T555C:p.L185L;INO80C:NM_194281:exon4:c.T447C:p.L149L;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000587450:exon2:c.T224C:p.L75S;	9.26924733408034E-5	0.152
18	33058246	A	T	18	35478282	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon6:c.T555A:p.L185L;INO80C:NM_194281:exon4:c.T447A:p.L149L;	exonic	ENSG00000153391	stopgain SNV	ENSG00000153391:ENST00000587450:exon2:c.T224A:p.L75X;	5.94256614627127E-5	0.026
18	33058247	A	C	18	35478283	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.T554G:p.L185R;INO80C:NM_194281:exon4:c.T446G:p.L149R;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon6:c.T554G:p.L185R;ENSG00000153391:ENST00000334598:exon4:c.T446G:p.L149R;ENSG00000153391:ENST00000587450:exon2:c.T223G:p.L75V;ENSG00000153391:ENST00000586489:exon4:c.T281G:p.L94R;ENSG00000153391:ENST00000592173:exon4:c.T446G:p.L149R;	0.984581586014525	0.862
18	33058247	A	G	18	35478283	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.T554C:p.L185P;INO80C:NM_194281:exon4:c.T446C:p.L149P;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon6:c.T554C:p.L185P;ENSG00000153391:ENST00000334598:exon4:c.T446C:p.L149P;ENSG00000153391:ENST00000586489:exon4:c.T281C:p.L94P;ENSG00000153391:ENST00000592173:exon4:c.T446C:p.L149P;	0.0402324261280542	0.16
18	33058247	A	T	18	35478283	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.T554A:p.L185H;INO80C:NM_194281:exon4:c.T446A:p.L149H;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon6:c.T554A:p.L185H;ENSG00000153391:ENST00000334598:exon4:c.T446A:p.L149H;ENSG00000153391:ENST00000587450:exon2:c.T223A:p.L75M;ENSG00000153391:ENST00000586489:exon4:c.T281A:p.L94H;ENSG00000153391:ENST00000592173:exon4:c.T446A:p.L149H;	0.765376761291227	0.5
18	33058248	G	A	18	35478284	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.C553T:p.L185F;INO80C:NM_194281:exon4:c.C445T:p.L149F;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon6:c.C553T:p.L185F;ENSG00000153391:ENST00000334598:exon4:c.C445T:p.L149F;ENSG00000153391:ENST00000586489:exon4:c.C280T:p.L94F;ENSG00000153391:ENST00000592173:exon4:c.C445T:p.L149F;	0.99978602343547	0.942
18	33058248	G	C	18	35478284	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.C553G:p.L185V;INO80C:NM_194281:exon4:c.C445G:p.L149V;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon6:c.C553G:p.L185V;ENSG00000153391:ENST00000334598:exon4:c.C445G:p.L149V;ENSG00000153391:ENST00000587450:exon2:c.C222G:p.C74W;ENSG00000153391:ENST00000586489:exon4:c.C280G:p.L94V;ENSG00000153391:ENST00000592173:exon4:c.C445G:p.L149V;	0.0158650147015642	0.276
18	33058248	G	T	18	35478284	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.C553A:p.L185I;INO80C:NM_194281:exon4:c.C445A:p.L149I;	exonic	ENSG00000153391	stopgain SNV	ENSG00000153391:ENST00000587450:exon2:c.C222A:p.C74X;	0.00887585511606847	0.156
18	33058312	G	A	18	35478348	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon6:c.C489T:p.Y163Y;INO80C:NM_194281:exon4:c.C381T:p.Y127Y;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000587450:exon2:c.C158T:p.T53I;	0.00245097231350239	0.056
18	33058312	G	C	18	35478348	y	y	exonic	INO80C	stopgain SNV	INO80C:NM_001098817:exon6:c.C489G:p.Y163X;INO80C:NM_194281:exon4:c.C381G:p.Y127X;	exonic	ENSG00000153391	stopgain SNV	ENSG00000153391:ENST00000441607:exon6:c.C489G:p.Y163X;ENSG00000153391:ENST00000334598:exon4:c.C381G:p.Y127X;ENSG00000153391:ENST00000586489:exon4:c.C216G:p.Y72X;ENSG00000153391:ENST00000592173:exon4:c.C381G:p.Y127X;	0.572755538286931	0.504
18	33058312	G	T	18	35478348	y	y	exonic	INO80C	stopgain SNV	INO80C:NM_001098817:exon6:c.C489A:p.Y163X;INO80C:NM_194281:exon4:c.C381A:p.Y127X;	exonic	ENSG00000153391	stopgain SNV	ENSG00000153391:ENST00000441607:exon6:c.C489A:p.Y163X;ENSG00000153391:ENST00000334598:exon4:c.C381A:p.Y127X;ENSG00000153391:ENST00000586489:exon4:c.C216A:p.Y72X;ENSG00000153391:ENST00000592173:exon4:c.C381A:p.Y127X;	0.564529072693918	0.584
18	33058313	T	A	18	35478349	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.A488T:p.Y163F;INO80C:NM_194281:exon4:c.A380T:p.Y127F;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon6:c.A488T:p.Y163F;ENSG00000153391:ENST00000334598:exon4:c.A380T:p.Y127F;ENSG00000153391:ENST00000587450:exon2:c.A157T:p.T53S;ENSG00000153391:ENST00000586489:exon4:c.A215T:p.Y72F;ENSG00000153391:ENST00000592173:exon4:c.A380T:p.Y127F;	0.631216109046349	0.56
18	33058313	T	C	18	35478349	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.A488G:p.Y163C;INO80C:NM_194281:exon4:c.A380G:p.Y127C;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon6:c.A488G:p.Y163C;ENSG00000153391:ENST00000334598:exon4:c.A380G:p.Y127C;ENSG00000153391:ENST00000587450:exon2:c.A157G:p.T53A;ENSG00000153391:ENST00000586489:exon4:c.A215G:p.Y72C;ENSG00000153391:ENST00000592173:exon4:c.A380G:p.Y127C;	0.736952744862507	0.694
18	33058313	T	G	18	35478349	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon6:c.A488C:p.Y163S;INO80C:NM_194281:exon4:c.A380C:p.Y127S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon6:c.A488C:p.Y163S;ENSG00000153391:ENST00000334598:exon4:c.A380C:p.Y127S;ENSG00000153391:ENST00000587450:exon2:c.A157C:p.T53P;ENSG00000153391:ENST00000586489:exon4:c.A215C:p.Y72S;ENSG00000153391:ENST00000592173:exon4:c.A380C:p.Y127S;	0.714270861300539	0.666
18	33058314	C	A	18	35478350	y	y	splicing	INO80C(NM_194281:exon5:c.380-1G>T;NM_001098817:exon7:c.488-1G>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.380-1G>T;ENST00000334598:exon5:c.380-1G>T;ENST00000441607:exon7:c.488-1G>T;ENST00000586489:exon5:c.215-1G>T;ENST00000587450:exon3:c.157-1G>T;ENST00000591139:exon5:c.309-1G>T)	.	.	0.999990361384395	0.936
18	33058314	C	G	18	35478350	y	y	splicing	INO80C(NM_194281:exon5:c.380-1G>C;NM_001098817:exon7:c.488-1G>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.380-1G>C;ENST00000334598:exon5:c.380-1G>C;ENST00000441607:exon7:c.488-1G>C;ENST00000586489:exon5:c.215-1G>C;ENST00000587450:exon3:c.157-1G>C;ENST00000591139:exon5:c.309-1G>C)	.	.	0.999990361384395	0.936
18	33058314	C	T	18	35478350	y	y	splicing	INO80C(NM_194281:exon5:c.380-1G>A;NM_001098817:exon7:c.488-1G>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.380-1G>A;ENST00000334598:exon5:c.380-1G>A;ENST00000441607:exon7:c.488-1G>A;ENST00000586489:exon5:c.215-1G>A;ENST00000587450:exon3:c.157-1G>A;ENST00000591139:exon5:c.309-1G>A)	.	.	0.999990361384395	0.936
18	33058315	T	A	18	35478351	y	y	splicing	INO80C(NM_194281:exon5:c.380-2A>T;NM_001098817:exon7:c.488-2A>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.380-2A>T;ENST00000334598:exon5:c.380-2A>T;ENST00000441607:exon7:c.488-2A>T;ENST00000586489:exon5:c.215-2A>T;ENST00000587450:exon3:c.157-2A>T;ENST00000591139:exon5:c.309-2A>T)	.	.	0.999988247793601	0.93
18	33058315	T	C	18	35478351	y	y	splicing	INO80C(NM_194281:exon5:c.380-2A>G;NM_001098817:exon7:c.488-2A>G)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.380-2A>G;ENST00000334598:exon5:c.380-2A>G;ENST00000441607:exon7:c.488-2A>G;ENST00000586489:exon5:c.215-2A>G;ENST00000587450:exon3:c.157-2A>G;ENST00000591139:exon5:c.309-2A>G)	.	.	0.999988247793601	0.93
18	33058315	T	G	18	35478351	y	y	splicing	INO80C(NM_194281:exon5:c.380-2A>C;NM_001098817:exon7:c.488-2A>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon5:c.380-2A>C;ENST00000334598:exon5:c.380-2A>C;ENST00000441607:exon7:c.488-2A>C;ENST00000586489:exon5:c.215-2A>C;ENST00000587450:exon3:c.157-2A>C;ENST00000591139:exon5:c.309-2A>C)	.	.	0.999988247793601	0.93
18	33058316	G	A	18	35478352	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00142516559238073	0.112
18	33058316	G	C	18	35478352	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.9890527478216	0.652
18	33058316	G	T	18	35478352	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.483113417534915	0.372
18	33058317	G	A	18	35478353	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.16367449508973E-5	0.006
18	33058317	G	C	18	35478353	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.04023003330063E-4	0.002
18	33058317	G	T	18	35478353	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.16367449508973E-5	0.016
18	33058318	G	A	18	35478354	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.17811283385769E-5	0.002
18	33058318	G	C	18	35478354	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.23106018141792E-5	0.148
18	33058318	G	T	18	35478354	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.6930698628939E-6	0.0
18	33058319	A	C	18	35478355	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.86532092382297E-5	0.13
18	33058319	A	G	18	35478355	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.67407616301091E-6	0.0
18	33058319	A	T	18	35478355	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.64461324163895E-5	0.176
18	33058320	A	C	18	35478356	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.7846101232401E-5	0.024
18	33058320	A	G	18	35478356	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.55290809950388E-5	0.0
18	33058320	A	T	18	35478356	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.07930975071066E-4	0.076
18	33058321	A	C	18	35478357	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.02197181506583E-5	0.01
18	33058321	A	G	18	35478357	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.15695704729251E-5	0.0
18	33058321	A	T	18	35478357	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	8.02935402897534E-5	0.032
18	33058322	A	C	18	35478358	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.65270561856354E-5	0.092
18	33058322	A	G	18	35478358	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.1748120673192E-5	0.016
18	33058322	A	T	18	35478358	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.78521785875575E-4	0.09
18	33058323	A	C	18	35478359	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00159373514788516	0.094
18	33058323	A	G	18	35478359	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.65056171081512E-4	0.01
18	33058323	A	T	18	35478359	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00136371502478911	0.062
18	33058324	A	C	18	35478360	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.52920471174756E-4	0.136
18	33058324	A	G	18	35478360	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.84625549515813E-5	0.03
18	33058324	A	T	18	35478360	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.19142765828595E-4	0.076
18	33058325	A	C	18	35478361	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.48184132339937E-4	0.1
18	33058325	A	G	18	35478361	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.63265315249984E-4	0.006
18	33058325	A	T	18	35478361	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.57418203359526E-4	0.102
18	33059256	C	A	18	35479292	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.85333513968298E-4	0.034
18	33059256	C	G	18	35479292	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.19174692929266E-4	0.0
18	33059256	C	T	18	35479292	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.8590907846528E-4	0.032
18	33059257	A	C	18	35479293	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.20866375215709E-4	0.176
18	33059257	A	G	18	35479293	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.4919163553804E-4	0.176
18	33059257	A	T	18	35479293	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.4919163553804E-4	0.17
18	33059258	G	A	18	35479294	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00113015303959268	0.062
18	33059258	G	C	18	35479294	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00241537516129468	0.098
18	33059258	G	T	18	35479294	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00736383226338674	0.162
18	33059259	C	A	18	35479295	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999933449459327	0.936
18	33059259	C	G	18	35479295	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999933449459327	0.974
18	33059259	C	T	18	35479295	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999933449459327	0.99
18	33059260	T	A	18	35479296	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999974647242598	0.908
18	33059260	T	C	18	35479296	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999959802493115	0.964
18	33059260	T	G	18	35479296	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999828415561372	0.868
18	33059261	C	A	18	35479297	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999107785154227	0.846
18	33059261	C	G	18	35479297	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999023721879707	0.838
18	33059261	C	T	18	35479297	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	8.35348317150433E-4	0.054
18	33059262	A	C	18	35479298	y	y	splicing	INO80C(NM_194281:exon4:c.379+2T>G;NM_001098817:exon6:c.487+2T>G)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.379+2T>G;ENST00000334598:exon4:c.379+2T>G;ENST00000441607:exon6:c.487+2T>G;ENST00000586489:exon4:c.214+2T>G;ENST00000591139:exon4:c.308+2T>G)	.	.	0.999986741007567	0.944
18	33059262	A	G	18	35479298	y	y	splicing	INO80C(NM_194281:exon4:c.379+2T>C;NM_001098817:exon6:c.487+2T>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.379+2T>C;ENST00000334598:exon4:c.379+2T>C;ENST00000441607:exon6:c.487+2T>C;ENST00000586489:exon4:c.214+2T>C;ENST00000591139:exon4:c.308+2T>C)	.	.	0.999974385115558	0.954
18	33059262	A	T	18	35479298	y	y	splicing	INO80C(NM_194281:exon4:c.379+2T>A;NM_001098817:exon6:c.487+2T>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.379+2T>A;ENST00000334598:exon4:c.379+2T>A;ENST00000441607:exon6:c.487+2T>A;ENST00000586489:exon4:c.214+2T>A;ENST00000591139:exon4:c.308+2T>A)	.	.	0.999986741007567	0.944
18	33059263	C	A	18	35479299	y	y	splicing	INO80C(NM_194281:exon4:c.379+1G>T;NM_001098817:exon6:c.487+1G>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.379+1G>T;ENST00000334598:exon4:c.379+1G>T;ENST00000441607:exon6:c.487+1G>T;ENST00000586489:exon4:c.214+1G>T;ENST00000591139:exon4:c.308+1G>T)	.	.	0.999989125585301	0.944
18	33059263	C	G	18	35479299	y	y	splicing	INO80C(NM_194281:exon4:c.379+1G>C;NM_001098817:exon6:c.487+1G>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.379+1G>C;ENST00000334598:exon4:c.379+1G>C;ENST00000441607:exon6:c.487+1G>C;ENST00000586489:exon4:c.214+1G>C;ENST00000591139:exon4:c.308+1G>C)	.	.	0.999989125585301	0.944
18	33059263	C	T	18	35479299	y	y	splicing	INO80C(NM_194281:exon4:c.379+1G>A;NM_001098817:exon6:c.487+1G>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.379+1G>A;ENST00000334598:exon4:c.379+1G>A;ENST00000441607:exon6:c.487+1G>A;ENST00000586489:exon4:c.214+1G>A;ENST00000591139:exon4:c.308+1G>A)	.	.	0.999989125585301	0.944
18	33059264	A	C	18	35479300	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.T487G:p.Y163D;INO80C:NM_194281:exon3:c.T379G:p.Y127D;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.T487G:p.Y163D;ENSG00000153391:ENST00000334598:exon3:c.T379G:p.Y127D;ENSG00000153391:ENST00000586489:exon3:c.T214G:p.Y72D;ENSG00000153391:ENST00000592173:exon3:c.T379G:p.Y127D;	0.532722363008072	0.392
18	33059264	A	G	18	35479300	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.T487C:p.Y163H;INO80C:NM_194281:exon3:c.T379C:p.Y127H;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.T487C:p.Y163H;ENSG00000153391:ENST00000334598:exon3:c.T379C:p.Y127H;ENSG00000153391:ENST00000586489:exon3:c.T214C:p.Y72H;ENSG00000153391:ENST00000592173:exon3:c.T379C:p.Y127H;	0.987850590400162	0.876
18	33059264	A	T	18	35479300	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.T487A:p.Y163N;INO80C:NM_194281:exon3:c.T379A:p.Y127N;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.T487A:p.Y163N;ENSG00000153391:ENST00000334598:exon3:c.T379A:p.Y127N;ENSG00000153391:ENST00000586489:exon3:c.T214A:p.Y72N;ENSG00000153391:ENST00000592173:exon3:c.T379A:p.Y127N;	0.912711883530077	0.766
18	33059265	G	A	18	35479301	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon5:c.C486T:p.N162N;INO80C:NM_194281:exon3:c.C378T:p.N126N;	exonic	ENSG00000153391	synonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.C486T:p.N162N;ENSG00000153391:ENST00000334598:exon3:c.C378T:p.N126N;ENSG00000153391:ENST00000586489:exon3:c.C213T:p.N71N;ENSG00000153391:ENST00000592173:exon3:c.C378T:p.N126N;	0.0811582823569091	0.312
18	33059265	G	C	18	35479301	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.C486G:p.N162K;INO80C:NM_194281:exon3:c.C378G:p.N126K;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.C486G:p.N162K;ENSG00000153391:ENST00000334598:exon3:c.C378G:p.N126K;ENSG00000153391:ENST00000586489:exon3:c.C213G:p.N71K;ENSG00000153391:ENST00000592173:exon3:c.C378G:p.N126K;	0.24051626830343	0.364
18	33059265	G	T	18	35479301	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.C486A:p.N162K;INO80C:NM_194281:exon3:c.C378A:p.N126K;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.C486A:p.N162K;ENSG00000153391:ENST00000334598:exon3:c.C378A:p.N126K;ENSG00000153391:ENST00000586489:exon3:c.C213A:p.N71K;ENSG00000153391:ENST00000592173:exon3:c.C378A:p.N126K;	0.466051924233206	0.44
18	33059266	T	A	18	35479302	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.A485T:p.N162I;INO80C:NM_194281:exon3:c.A377T:p.N126I;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.A485T:p.N162I;ENSG00000153391:ENST00000334598:exon3:c.A377T:p.N126I;ENSG00000153391:ENST00000586489:exon3:c.A212T:p.N71I;ENSG00000153391:ENST00000592173:exon3:c.A377T:p.N126I;	0.999361500183457	0.828
18	33059266	T	C	18	35479302	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.A485G:p.N162S;INO80C:NM_194281:exon3:c.A377G:p.N126S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.A485G:p.N162S;ENSG00000153391:ENST00000334598:exon3:c.A377G:p.N126S;ENSG00000153391:ENST00000586489:exon3:c.A212G:p.N71S;ENSG00000153391:ENST00000592173:exon3:c.A377G:p.N126S;	0.525990871739168	0.346
18	33059266	T	G	18	35479302	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.A485C:p.N162T;INO80C:NM_194281:exon3:c.A377C:p.N126T;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.A485C:p.N162T;ENSG00000153391:ENST00000334598:exon3:c.A377C:p.N126T;ENSG00000153391:ENST00000586489:exon3:c.A212C:p.N71T;ENSG00000153391:ENST00000592173:exon3:c.A377C:p.N126T;	0.0021152446258677	0.136
18	33059374	T	A	18	35479410	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.A377T:p.H126L;INO80C:NM_194281:exon3:c.A269T:p.H90L;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.A377T:p.H126L;ENSG00000153391:ENST00000334598:exon3:c.A269T:p.H90L;ENSG00000153391:ENST00000586489:exon3:c.A104T:p.H35L;ENSG00000153391:ENST00000592173:exon3:c.A269T:p.H90L;	0.853623808143288	0.704
18	33059374	T	C	18	35479410	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.A377G:p.H126R;INO80C:NM_194281:exon3:c.A269G:p.H90R;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.A377G:p.H126R;ENSG00000153391:ENST00000334598:exon3:c.A269G:p.H90R;ENSG00000153391:ENST00000586489:exon3:c.A104G:p.H35R;ENSG00000153391:ENST00000592173:exon3:c.A269G:p.H90R;	0.87917687268375	0.708
18	33059374	T	G	18	35479410	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.A377C:p.H126P;INO80C:NM_194281:exon3:c.A269C:p.H90P;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.A377C:p.H126P;ENSG00000153391:ENST00000334598:exon3:c.A269C:p.H90P;ENSG00000153391:ENST00000586489:exon3:c.A104C:p.H35P;ENSG00000153391:ENST00000592173:exon3:c.A269C:p.H90P;	0.832495287132807	0.6
18	33059375	G	A	18	35479411	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.C376T:p.H126Y;INO80C:NM_194281:exon3:c.C268T:p.H90Y;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.C376T:p.H126Y;ENSG00000153391:ENST00000334598:exon3:c.C268T:p.H90Y;ENSG00000153391:ENST00000586489:exon3:c.C103T:p.H35Y;ENSG00000153391:ENST00000592173:exon3:c.C268T:p.H90Y;	0.991114161053361	0.758
18	33059375	G	C	18	35479411	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.C376G:p.H126D;INO80C:NM_194281:exon3:c.C268G:p.H90D;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.C376G:p.H126D;ENSG00000153391:ENST00000334598:exon3:c.C268G:p.H90D;ENSG00000153391:ENST00000586489:exon3:c.C103G:p.H35D;ENSG00000153391:ENST00000592173:exon3:c.C268G:p.H90D;	0.977474574640859	0.724
18	33059375	G	T	18	35479411	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon5:c.C376A:p.H126N;INO80C:NM_194281:exon3:c.C268A:p.H90N;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon5:c.C376A:p.H126N;ENSG00000153391:ENST00000334598:exon3:c.C268A:p.H90N;ENSG00000153391:ENST00000586489:exon3:c.C103A:p.H35N;ENSG00000153391:ENST00000592173:exon3:c.C268A:p.H90N;	0.951706370401403	0.83
18	33059376	C	A	18	35479412	y	y	splicing	INO80C(NM_194281:exon4:c.268-1G>T;NM_001098817:exon6:c.376-1G>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.268-1G>T;ENST00000334598:exon4:c.268-1G>T;ENST00000441607:exon6:c.376-1G>T;ENST00000586489:exon4:c.103-1G>T;ENST00000591139:exon4:c.197-1G>T;ENST00000586449:exon6:c.757-1G>T)	.	.	0.999985960103954	0.888
18	33059376	C	G	18	35479412	y	y	splicing	INO80C(NM_194281:exon4:c.268-1G>C;NM_001098817:exon6:c.376-1G>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.268-1G>C;ENST00000334598:exon4:c.268-1G>C;ENST00000441607:exon6:c.376-1G>C;ENST00000586489:exon4:c.103-1G>C;ENST00000591139:exon4:c.197-1G>C;ENST00000586449:exon6:c.757-1G>C)	.	.	0.999985960103954	0.88
18	33059376	C	T	18	35479412	y	y	splicing	INO80C(NM_194281:exon4:c.268-1G>A;NM_001098817:exon6:c.376-1G>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.268-1G>A;ENST00000334598:exon4:c.268-1G>A;ENST00000441607:exon6:c.376-1G>A;ENST00000586489:exon4:c.103-1G>A;ENST00000591139:exon4:c.197-1G>A;ENST00000586449:exon6:c.757-1G>A)	.	.	0.999985960103954	0.888
18	33059377	T	A	18	35479413	y	y	splicing	INO80C(NM_194281:exon4:c.268-2A>T;NM_001098817:exon6:c.376-2A>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.268-2A>T;ENST00000334598:exon4:c.268-2A>T;ENST00000441607:exon6:c.376-2A>T;ENST00000586489:exon4:c.103-2A>T;ENST00000591139:exon4:c.197-2A>T;ENST00000586449:exon6:c.757-2A>T)	.	.	0.999891083642352	0.874
18	33059377	T	C	18	35479413	y	y	splicing	INO80C(NM_194281:exon4:c.268-2A>G;NM_001098817:exon6:c.376-2A>G)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.268-2A>G;ENST00000334598:exon4:c.268-2A>G;ENST00000441607:exon6:c.376-2A>G;ENST00000586489:exon4:c.103-2A>G;ENST00000591139:exon4:c.197-2A>G;ENST00000586449:exon6:c.757-2A>G)	.	.	0.9998780249771	0.864
18	33059377	T	G	18	35479413	y	y	splicing	INO80C(NM_194281:exon4:c.268-2A>C;NM_001098817:exon6:c.376-2A>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon4:c.268-2A>C;ENST00000334598:exon4:c.268-2A>C;ENST00000441607:exon6:c.376-2A>C;ENST00000586489:exon4:c.103-2A>C;ENST00000591139:exon4:c.197-2A>C;ENST00000586449:exon6:c.757-2A>C)	.	.	0.9998780249771	0.864
18	33059378	T	A	18	35479414	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.29551396262525E-5	0.0
18	33059378	T	C	18	35479414	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.9476123647865E-4	0.12
18	33059378	T	G	18	35479414	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.49311888815231E-5	0.03
18	33059379	G	A	18	35479415	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.46515573748776E-4	0.196
18	33059379	G	C	18	35479415	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.98045034632735E-5	0.018
18	33059379	G	T	18	35479415	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.49897156651184E-5	0.202
18	33059380	A	C	18	35479416	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.961019221951218	0.688
18	33059380	A	G	18	35479416	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0264745846810243	0.308
18	33059380	A	T	18	35479416	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.963639675543108	0.738
18	33059381	A	C	18	35479417	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999635062717133	0.942
18	33059381	A	G	18	35479417	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00179874437564081	0.126
18	33059381	A	T	18	35479417	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.651644543410801	0.61
18	33059382	T	A	18	35479418	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.21628131492685E-4	0.036
18	33059382	T	C	18	35479418	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999184378331605	0.95
18	33059382	T	G	18	35479418	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.67656603910531E-5	0.022
18	33059383	T	A	18	35479419	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.11791818305432E-4	0.094
18	33059383	T	C	18	35479419	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.57123675513476E-4	0.22
18	33059383	T	G	18	35479419	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.47382476390186E-4	0.056
18	33059384	G	A	18	35479420	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.61650210949298E-4	0.156
18	33059384	G	C	18	35479420	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00593848977154295	0.166
18	33059384	G	T	18	35479420	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00389575140634854	0.172
18	33059385	A	C	18	35479421	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.819093381885165	0.644
18	33059385	A	G	18	35479421	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.73615390301781E-4	0.128
18	33059385	A	T	18	35479421	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.564626363141429	0.632
18	33059386	A	C	18	35479422	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.996720163666999	0.766
18	33059386	A	G	18	35479422	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.984568838229862	0.542
18	33059386	A	T	18	35479422	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.998513616128513	0.882
18	33059387	G	A	18	35479423	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.31102717419281E-4	0.07
18	33059387	G	C	18	35479423	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00510049847678991	0.098
18	33059387	G	T	18	35479423	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00510049847678991	0.08
18	33060409	A	C	18	35480445	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00771273684986176	0.014
18	33060409	A	G	18	35480445	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00771273684986176	0.026
18	33060409	A	T	18	35480445	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00771273684986176	0.026
18	33060410	T	A	18	35480446	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.62357959790831E-4	0.016
18	33060410	T	C	18	35480446	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.69321170892383E-4	0.0
18	33060410	T	G	18	35480446	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.44723860357282E-4	0.002
18	33060411	G	A	18	35480447	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.2663280452109E-4	0.022
18	33060411	G	C	18	35480447	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.8813874620454E-4	0.038
18	33060411	G	T	18	35480447	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.43232340693608E-4	0.032
18	33060412	C	A	18	35480448	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999923222600512	0.912
18	33060412	C	G	18	35480448	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999847533155072	0.988
18	33060412	C	T	18	35480448	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999923222600512	0.99
18	33060413	T	A	18	35480449	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.994395449344101	0.906
18	33060413	T	C	18	35480449	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.99816993965226	0.96
18	33060413	T	G	18	35480449	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.995878190926224	0.894
18	33060414	T	A	18	35480450	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999869233805327	0.958
18	33060414	T	C	18	35480450	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.344241488026526	0.416
18	33060414	T	G	18	35480450	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999862645160775	0.928
18	33060415	A	C	18	35480451	y	y	splicing	INO80C(NM_194281:exon3:c.267+2T>G;NM_001098817:exon5:c.375+2T>G)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.267+2T>G;ENST00000334598:exon3:c.267+2T>G;ENST00000441607:exon5:c.375+2T>G;ENST00000586489:exon3:c.102+2T>G;ENST00000591139:exon3:c.196+2T>G)	.	.	0.999988247793601	0.93
18	33060415	A	G	18	35480451	y	y	splicing	INO80C(NM_194281:exon3:c.267+2T>C;NM_001098817:exon5:c.375+2T>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.267+2T>C;ENST00000334598:exon3:c.267+2T>C;ENST00000441607:exon5:c.375+2T>C;ENST00000586489:exon3:c.102+2T>C;ENST00000591139:exon3:c.196+2T>C)	.	.	0.999909339234421	0.904
18	33060415	A	T	18	35480451	y	y	splicing	INO80C(NM_194281:exon3:c.267+2T>A;NM_001098817:exon5:c.375+2T>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.267+2T>A;ENST00000334598:exon3:c.267+2T>A;ENST00000441607:exon5:c.375+2T>A;ENST00000586489:exon3:c.102+2T>A;ENST00000591139:exon3:c.196+2T>A)	.	.	0.999988247793601	0.93
18	33060416	C	A	18	35480452	y	y	splicing	INO80C(NM_194281:exon3:c.267+1G>T;NM_001098817:exon5:c.375+1G>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.267+1G>T;ENST00000334598:exon3:c.267+1G>T;ENST00000441607:exon5:c.375+1G>T;ENST00000586489:exon3:c.102+1G>T;ENST00000591139:exon3:c.196+1G>T)	.	.	0.999989072007339	0.928
18	33060416	C	G	18	35480452	y	y	splicing	INO80C(NM_194281:exon3:c.267+1G>C;NM_001098817:exon5:c.375+1G>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.267+1G>C;ENST00000334598:exon3:c.267+1G>C;ENST00000441607:exon5:c.375+1G>C;ENST00000586489:exon3:c.102+1G>C;ENST00000591139:exon3:c.196+1G>C)	.	.	0.999989072007339	0.928
18	33060416	C	T	18	35480452	y	y	splicing	INO80C(NM_194281:exon3:c.267+1G>A;NM_001098817:exon5:c.375+1G>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.267+1G>A;ENST00000334598:exon3:c.267+1G>A;ENST00000441607:exon5:c.375+1G>A;ENST00000586489:exon3:c.102+1G>A;ENST00000591139:exon3:c.196+1G>A)	.	.	0.999989072007339	0.928
18	33060417	C	A	18	35480453	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon4:c.G375T:p.V125V;INO80C:NM_194281:exon2:c.G267T:p.V89V;	exonic	ENSG00000153391	synonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G375T:p.V125V;ENSG00000153391:ENST00000334598:exon2:c.G267T:p.V89V;ENSG00000153391:ENST00000586489:exon2:c.G102T:p.V34V;ENSG00000153391:ENST00000592173:exon2:c.G267T:p.V89V;	0.999993642418574	0.994
18	33060417	C	G	18	35480453	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon4:c.G375C:p.V125V;INO80C:NM_194281:exon2:c.G267C:p.V89V;	exonic	ENSG00000153391	synonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G375C:p.V125V;ENSG00000153391:ENST00000334598:exon2:c.G267C:p.V89V;ENSG00000153391:ENST00000586489:exon2:c.G102C:p.V34V;ENSG00000153391:ENST00000592173:exon2:c.G267C:p.V89V;	0.999984590466598	0.964
18	33060417	C	T	18	35480453	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon4:c.G375A:p.V125V;INO80C:NM_194281:exon2:c.G267A:p.V89V;	exonic	ENSG00000153391	synonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G375A:p.V125V;ENSG00000153391:ENST00000334598:exon2:c.G267A:p.V89V;ENSG00000153391:ENST00000586489:exon2:c.G102A:p.V34V;ENSG00000153391:ENST00000592173:exon2:c.G267A:p.V89V;	0.999988413391903	0.998
18	33060418	A	C	18	35480454	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.T374G:p.V125G;INO80C:NM_194281:exon2:c.T266G:p.V89G;	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000586449:exon5:c.756+2T>G)	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.T374G:p.V125G;ENSG00000153391:ENST00000334598:exon2:c.T266G:p.V89G;ENSG00000153391:ENST00000586489:exon2:c.T101G:p.V34G;ENSG00000153391:ENST00000592173:exon2:c.T266G:p.V89G;	0.709095826251183	0.588
18	33060418	A	G	18	35480454	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.T374C:p.V125A;INO80C:NM_194281:exon2:c.T266C:p.V89A;	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000586449:exon5:c.756+2T>C)	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.T374C:p.V125A;ENSG00000153391:ENST00000334598:exon2:c.T266C:p.V89A;ENSG00000153391:ENST00000586489:exon2:c.T101C:p.V34A;ENSG00000153391:ENST00000592173:exon2:c.T266C:p.V89A;	0.159038532704619	0.532
18	33060418	A	T	18	35480454	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.T374A:p.V125E;INO80C:NM_194281:exon2:c.T266A:p.V89E;	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000586449:exon5:c.756+2T>A)	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.T374A:p.V125E;ENSG00000153391:ENST00000334598:exon2:c.T266A:p.V89E;ENSG00000153391:ENST00000586489:exon2:c.T101A:p.V34E;ENSG00000153391:ENST00000592173:exon2:c.T266A:p.V89E;	0.0280639958635758	0.226
18	33060419	C	A	18	35480455	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G373T:p.V125L;INO80C:NM_194281:exon2:c.G265T:p.V89L;	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000586449:exon5:c.756+1G>T)	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G373T:p.V125L;ENSG00000153391:ENST00000334598:exon2:c.G265T:p.V89L;ENSG00000153391:ENST00000586489:exon2:c.G100T:p.V34L;ENSG00000153391:ENST00000592173:exon2:c.G265T:p.V89L;	0.639989697281615	0.512
18	33060419	C	G	18	35480455	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G373C:p.V125L;INO80C:NM_194281:exon2:c.G265C:p.V89L;	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000586449:exon5:c.756+1G>C)	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G373C:p.V125L;ENSG00000153391:ENST00000334598:exon2:c.G265C:p.V89L;ENSG00000153391:ENST00000586489:exon2:c.G100C:p.V34L;ENSG00000153391:ENST00000592173:exon2:c.G265C:p.V89L;	0.122255822510122	0.198
18	33060419	C	T	18	35480455	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G373A:p.V125M;INO80C:NM_194281:exon2:c.G265A:p.V89M;	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000586449:exon5:c.756+1G>A)	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G373A:p.V125M;ENSG00000153391:ENST00000334598:exon2:c.G265A:p.V89M;ENSG00000153391:ENST00000586489:exon2:c.G100A:p.V34M;ENSG00000153391:ENST00000592173:exon2:c.G265A:p.V89M;	0.507142268090786	0.532
18	33060526	C	A	18	35480562	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G266T:p.G89V;INO80C:NM_194281:exon2:c.G158T:p.G53V;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G266T:p.G89V;ENSG00000153391:ENST00000334598:exon2:c.G158T:p.G53V;ENSG00000153391:ENST00000592173:exon2:c.G158T:p.G53V;	0.00308833172554221	0.076
18	33060526	C	G	18	35480562	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G266C:p.G89A;INO80C:NM_194281:exon2:c.G158C:p.G53A;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G266C:p.G89A;ENSG00000153391:ENST00000334598:exon2:c.G158C:p.G53A;ENSG00000153391:ENST00000592173:exon2:c.G158C:p.G53A;	0.00139781942042698	0.13
18	33060526	C	T	18	35480562	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G266A:p.G89D;INO80C:NM_194281:exon2:c.G158A:p.G53D;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G266A:p.G89D;ENSG00000153391:ENST00000334598:exon2:c.G158A:p.G53D;ENSG00000153391:ENST00000592173:exon2:c.G158A:p.G53D;	0.0118087562412561	0.124
18	33060527	C	A	18	35480563	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G265T:p.G89C;INO80C:NM_194281:exon2:c.G157T:p.G53C;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G265T:p.G89C;ENSG00000153391:ENST00000334598:exon2:c.G157T:p.G53C;ENSG00000153391:ENST00000592173:exon2:c.G157T:p.G53C;	0.995066856121205	0.952
18	33060527	C	G	18	35480563	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G265C:p.G89R;INO80C:NM_194281:exon2:c.G157C:p.G53R;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G265C:p.G89R;ENSG00000153391:ENST00000334598:exon2:c.G157C:p.G53R;ENSG00000153391:ENST00000592173:exon2:c.G157C:p.G53R;	0.760004273943857	0.744
18	33060527	C	T	18	35480563	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon4:c.G265A:p.G89S;INO80C:NM_194281:exon2:c.G157A:p.G53S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon4:c.G265A:p.G89S;ENSG00000153391:ENST00000334598:exon2:c.G157A:p.G53S;ENSG00000153391:ENST00000592173:exon2:c.G157A:p.G53S;	0.578491656554204	0.444
18	33060528	C	A	18	35480564	y	y	splicing	INO80C(NM_194281:exon3:c.157-1G>T;NM_001098817:exon5:c.265-1G>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.157-1G>T;ENST00000334598:exon3:c.157-1G>T;ENST00000441607:exon5:c.265-1G>T;ENST00000591139:exon3:c.86-1G>T;ENST00000586449:exon5:c.649-1G>T)	.	.	0.999971412033808	0.868
18	33060528	C	G	18	35480564	y	y	splicing	INO80C(NM_194281:exon3:c.157-1G>C;NM_001098817:exon5:c.265-1G>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.157-1G>C;ENST00000334598:exon3:c.157-1G>C;ENST00000441607:exon5:c.265-1G>C;ENST00000591139:exon3:c.86-1G>C;ENST00000586449:exon5:c.649-1G>C)	.	.	0.999971412033808	0.846
18	33060528	C	T	18	35480564	y	y	splicing	INO80C(NM_194281:exon3:c.157-1G>A;NM_001098817:exon5:c.265-1G>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.157-1G>A;ENST00000334598:exon3:c.157-1G>A;ENST00000441607:exon5:c.265-1G>A;ENST00000591139:exon3:c.86-1G>A;ENST00000586449:exon5:c.649-1G>A)	.	.	0.999974107838956	0.874
18	33060529	T	A	18	35480565	y	y	splicing	INO80C(NM_194281:exon3:c.157-2A>T;NM_001098817:exon5:c.265-2A>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.157-2A>T;ENST00000334598:exon3:c.157-2A>T;ENST00000441607:exon5:c.265-2A>T;ENST00000591139:exon3:c.86-2A>T;ENST00000586449:exon5:c.649-2A>T)	.	.	0.999931658812138	0.786
18	33060529	T	C	18	35480565	y	y	splicing	INO80C(NM_194281:exon3:c.157-2A>G;NM_001098817:exon5:c.265-2A>G)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.157-2A>G;ENST00000334598:exon3:c.157-2A>G;ENST00000441607:exon5:c.265-2A>G;ENST00000591139:exon3:c.86-2A>G;ENST00000586449:exon5:c.649-2A>G)	.	.	0.999931658812138	0.748
18	33060529	T	G	18	35480565	y	y	splicing	INO80C(NM_194281:exon3:c.157-2A>C;NM_001098817:exon5:c.265-2A>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon3:c.157-2A>C;ENST00000334598:exon3:c.157-2A>C;ENST00000441607:exon5:c.265-2A>C;ENST00000591139:exon3:c.86-2A>C;ENST00000586449:exon5:c.649-2A>C)	.	.	0.999931658812138	0.748
18	33060530	T	A	18	35480566	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.60446672036411E-5	0.004
18	33060530	T	C	18	35480566	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.785345056791832	0.592
18	33060530	T	G	18	35480566	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.89549438083091E-4	0.084
18	33060531	A	C	18	35480567	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.60651923719413E-4	0.174
18	33060531	A	G	18	35480567	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.42531112471452E-4	0.258
18	33060531	A	T	18	35480567	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.76956890769875E-4	0.258
18	33060532	A	C	18	35480568	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.971506305302467	0.646
18	33060532	A	G	18	35480568	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0133359217872357	0.152
18	33060532	A	T	18	35480568	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.937402900738649	0.604
18	33060533	A	C	18	35480569	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.523488892632329	0.506
18	33060533	A	G	18	35480569	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.14604316952382E-4	0.076
18	33060533	A	T	18	35480569	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.523488892632329	0.51
18	33060534	A	C	18	35480570	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0330505732720344	0.27
18	33060534	A	G	18	35480570	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.63092794256615E-4	0.138
18	33060534	A	T	18	35480570	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.115905669923041	0.398
18	33060535	C	A	18	35480571	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.73376365199146E-5	0.004
18	33060535	C	G	18	35480571	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.67549112424481E-5	0.01
18	33060535	C	T	18	35480571	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.49795856161994E-4	0.15
18	33060536	A	C	18	35480572	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.998727290479877	0.958
18	33060536	A	G	18	35480572	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.14396390849361E-5	0.018
18	33060536	A	T	18	35480572	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.998804005873802	0.944
18	33060537	T	A	18	35480573	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.1030209040341E-5	0.004
18	33060537	T	C	18	35480573	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.21357508586396E-5	0.0
18	33060537	T	G	18	35480573	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.1030209040341E-5	0.002
18	33060538	A	C	18	35480574	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.292478799744006	0.426
18	33060538	A	G	18	35480574	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00153349901039243	0.136
18	33060538	A	T	18	35480574	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.225064931138162	0.43
18	33060539	A	C	18	35480575	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999848930328631	0.874
18	33060539	A	G	18	35480575	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0011785316809646	0.1
18	33060539	A	T	18	35480575	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0113353728933654	0.262
18	33067342	G	A	18	35487378	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00109591621800032	0.006
18	33067342	G	C	18	35487378	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.07488159599185E-4	0.004
18	33067342	G	T	18	35487378	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.07488159599185E-4	0.004
18	33067343	G	A	18	35487379	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00108874050503962	0.044
18	33067343	G	C	18	35487379	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.93460228012163E-4	0.002
18	33067343	G	T	18	35487379	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.79830777837614E-4	0.004
18	33067344	A	C	18	35487380	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.700144876852019	0.598
18	33067344	A	G	18	35487380	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.679852071203955	0.404
18	33067344	A	T	18	35487380	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.778494945569547	0.628
18	33067345	C	A	18	35487381	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999980730955833	0.936
18	33067345	C	G	18	35487381	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999524545897639	0.902
18	33067345	C	T	18	35487381	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999946262562461	0.924
18	33067346	T	A	18	35487382	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.995983354978036	0.746
18	33067346	T	C	18	35487382	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.99002962380143	0.782
18	33067346	T	G	18	35487382	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.958116053833803	0.586
18	33067347	C	A	18	35487383	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.996600833385547	0.568
18	33067347	C	G	18	35487383	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.988372166522453	0.652
18	33067347	C	T	18	35487383	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.4115779600602E-4	0.002
18	33067348	A	C	18	35487384	y	y	splicing	INO80C(NM_001098817:exon4:c.264+2T>G)	.	.	splicing	ENSG00000153391(ENST00000441607:exon4:c.264+2T>G;ENST00000591139:exon2:c.85+2T>G;ENST00000586449:exon4:c.648+2T>G)	.	.	0.999968048334071	0.854
18	33067348	A	G	18	35487384	y	y	splicing	INO80C(NM_001098817:exon4:c.264+2T>C)	.	.	splicing	ENSG00000153391(ENST00000441607:exon4:c.264+2T>C;ENST00000591139:exon2:c.85+2T>C;ENST00000586449:exon4:c.648+2T>C)	.	.	0.999804661257875	0.848
18	33067348	A	T	18	35487384	y	y	splicing	INO80C(NM_001098817:exon4:c.264+2T>A)	.	.	splicing	ENSG00000153391(ENST00000441607:exon4:c.264+2T>A;ENST00000591139:exon2:c.85+2T>A;ENST00000586449:exon4:c.648+2T>A)	.	.	0.999973955503114	0.882
18	33067349	C	A	18	35487385	y	y	splicing	INO80C(NM_001098817:exon4:c.264+1G>T)	.	.	splicing	ENSG00000153391(ENST00000441607:exon4:c.264+1G>T;ENST00000591139:exon2:c.85+1G>T;ENST00000586449:exon4:c.648+1G>T)	.	.	0.999943134403732	0.846
18	33067349	C	G	18	35487385	y	y	splicing	INO80C(NM_001098817:exon4:c.264+1G>C)	.	.	splicing	ENSG00000153391(ENST00000441607:exon4:c.264+1G>C;ENST00000591139:exon2:c.85+1G>C;ENST00000586449:exon4:c.648+1G>C)	.	.	0.999931487006069	0.84
18	33067349	C	T	18	35487385	y	y	splicing	INO80C(NM_001098817:exon4:c.264+1G>A)	.	.	splicing	ENSG00000153391(ENST00000441607:exon4:c.264+1G>A;ENST00000591139:exon2:c.85+1G>A;ENST00000586449:exon4:c.648+1G>A)	.	.	0.999943134403732	0.85
18	33067350	A	C	18	35487386	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.T264G:p.N88K;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.T264G:p.N88K;	1.56573388792204E-4	0.19
18	33067350	A	G	18	35487386	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon3:c.T264C:p.N88N;	exonic	ENSG00000153391	synonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.T264C:p.N88N;	1.80057338132606E-4	0.064
18	33067350	A	T	18	35487386	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.T264A:p.N88K;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.T264A:p.N88K;	2.0813312085048E-5	0.006
18	33067351	T	A	18	35487387	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A263T:p.N88I;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A263T:p.N88I;	0.0293075050426993	0.376
18	33067351	T	C	18	35487387	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A263G:p.N88S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A263G:p.N88S;	0.0247821137978482	0.38
18	33067351	T	G	18	35487387	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A263C:p.N88T;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A263C:p.N88T;	0.0329108910662348	0.452
18	33067352	T	A	18	35487388	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A262T:p.N88Y;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A262T:p.N88Y;	0.0519017521155046	0.262
18	33067352	T	C	18	35487388	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A262G:p.N88D;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A262G:p.N88D;	1.52226722725441E-4	0.0
18	33067352	T	G	18	35487388	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A262C:p.N88H;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A262C:p.N88H;	2.80520009538704E-5	0.0
18	33067402	G	A	18	35487438	y	n	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.C212T:p.T71M;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.C212T:p.T71M;	2.71356964118986E-4	.
18	33067402	G	C	18	35487438	y	n	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.C212G:p.T71R;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.C212G:p.T71R;	3.70376598208078E-4	.
18	33067402	G	T	18	35487438	y	n	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.C212A:p.T71K;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.C212A:p.T71K;	5.43121688922488E-4	.
18	33067403	T	A	18	35487439	y	n	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A211T:p.T71S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A211T:p.T71S;	0.00132333753314499	.
18	33067403	T	C	18	35487439	y	n	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A211G:p.T71A;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A211G:p.T71A;	4.27149672398531E-5	.
18	33067403	T	G	18	35487439	y	n	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon3:c.A211C:p.T71P;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon3:c.A211C:p.T71P;	6.03690461145359E-4	.
18	33067404	C	A	18	35487440	y	n	splicing	INO80C(NM_001098817:exon4:c.211-1G>T)	.	.	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000441607:exon4:c.211-1G>T)	unknown	UNKNOWN	0.953910428395807	.
18	33067404	C	G	18	35487440	y	n	splicing	INO80C(NM_001098817:exon4:c.211-1G>C)	.	.	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000441607:exon4:c.211-1G>C)	unknown	UNKNOWN	0.953910428395807	.
18	33067404	C	T	18	35487440	y	n	splicing	INO80C(NM_001098817:exon4:c.211-1G>A)	.	.	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000441607:exon4:c.211-1G>A)	unknown	UNKNOWN	0.953910428395807	.
18	33067405	T	A	18	35487441	y	n	splicing	INO80C(NM_001098817:exon4:c.211-2A>T)	.	.	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000441607:exon4:c.211-2A>T)	unknown	UNKNOWN	0.999717699398252	.
18	33067405	T	C	18	35487441	y	n	splicing	INO80C(NM_001098817:exon4:c.211-2A>G)	.	.	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000441607:exon4:c.211-2A>G)	unknown	UNKNOWN	0.999767403525902	.
18	33067405	T	G	18	35487441	y	n	splicing	INO80C(NM_001098817:exon4:c.211-2A>C)	.	.	exonic;splicing	ENSG00000153391;ENSG00000153391(ENST00000441607:exon4:c.211-2A>C)	unknown	UNKNOWN	0.999767403525902	.
18	33067406	T	A	18	35487442	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	5.9617115492041E-5	.
18	33067406	T	C	18	35487442	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.00274852623657961	.
18	33067406	T	G	18	35487442	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	3.1710103438763E-4	.
18	33067407	A	C	18	35487443	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	1.93474910916074E-4	.
18	33067407	A	G	18	35487443	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	1.53476592830467E-4	.
18	33067407	A	T	18	35487443	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	2.15028573619618E-4	.
18	33067408	C	A	18	35487444	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	2.28120715783803E-4	.
18	33067408	C	G	18	35487444	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	1.58881183081361E-4	.
18	33067408	C	T	18	35487444	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	6.55418579041511E-4	.
18	33067409	G	A	18	35487445	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	3.72745368037091E-5	.
18	33067409	G	C	18	35487445	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.736755733943814	.
18	33067409	G	T	18	35487445	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.774520304212967	.
18	33067410	T	A	18	35487446	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	2.9467845557573E-5	.
18	33067410	T	C	18	35487446	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	2.15028573619618E-4	.
18	33067410	T	G	18	35487446	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	5.23720260650274E-5	.
18	33067411	G	A	18	35487447	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	3.68775916602143E-4	.
18	33067411	G	C	18	35487447	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.00882749283600521	.
18	33067411	G	T	18	35487447	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.0168739119009253	.
18	33067412	G	A	18	35487448	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	6.83863896683839E-4	.
18	33067412	G	C	18	35487448	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.00160679456627704	.
18	33067412	G	T	18	35487448	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.00148385207213104	.
18	33067413	C	A	18	35487449	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	4.97497638314714E-4	.
18	33067413	C	G	18	35487449	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	4.45218380958466E-4	.
18	33067413	C	T	18	35487449	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.00279796190052711	.
18	33067414	A	C	18	35487450	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.851014046069492	.
18	33067414	A	G	18	35487450	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.0483562852727215	.
18	33067414	A	T	18	35487450	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.999416987862959	.
18	33067415	G	A	18	35487451	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	4.62900905864126E-4	.
18	33067415	G	C	18	35487451	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.00328398662387816	.
18	33067415	G	T	18	35487451	y	n	intronic	INO80C	.	.	exonic	ENSG00000153391	unknown	UNKNOWN	0.00433600233345064	.
18	33067786	G	A	18	35487822	n	y	intronic	INO80C	.	.	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000586449:exon3:c.C212T:p.A71V;	2.74330512880062E-4	.
18	33067786	G	C	18	35487822	n	y	intronic	INO80C	.	.	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000586449:exon3:c.C212G:p.A71G;	1.1558861132519E-4	.
18	33067786	G	T	18	35487822	n	y	intronic	INO80C	.	.	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000586449:exon3:c.C212A:p.A71D;	1.1558861132519E-4	.
18	33067787	C	A	18	35487823	n	y	intronic	INO80C	.	.	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000586449:exon3:c.G211T:p.A71S;	4.08802802279601E-5	.
18	33067787	C	G	18	35487823	n	y	intronic	INO80C	.	.	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000586449:exon3:c.G211C:p.A71P;	3.78864525412067E-5	.
18	33067787	C	T	18	35487823	n	y	intronic	INO80C	.	.	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000586449:exon3:c.G211A:p.A71T;	4.08802802279601E-5	.
18	33067788	C	A	18	35487824	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391(ENST00000586449:exon4:c.211-1G>T)	.	.	2.05160940413621E-4	.
18	33067788	C	G	18	35487824	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391(ENST00000586449:exon4:c.211-1G>C)	.	.	2.05160940413621E-4	.
18	33067788	C	T	18	35487824	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391(ENST00000586449:exon4:c.211-1G>A)	.	.	2.05160940413621E-4	.
18	33067789	T	A	18	35487825	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391(ENST00000586449:exon4:c.211-2A>T)	.	.	4.57036302202396E-5	.
18	33067789	T	C	18	35487825	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391(ENST00000586449:exon4:c.211-2A>G)	.	.	4.57036302202396E-5	.
18	33067789	T	G	18	35487825	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391(ENST00000586449:exon4:c.211-2A>C)	.	.	4.57036302202396E-5	.
18	33067790	G	A	18	35487826	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.69996333547411E-4	.
18	33067790	G	C	18	35487826	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.69996333547411E-4	.
18	33067790	G	T	18	35487826	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.69996333547411E-4	.
18	33067791	T	A	18	35487827	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.55166373310362E-4	.
18	33067791	T	C	18	35487827	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.10283556759765E-4	.
18	33067791	T	G	18	35487827	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.10283556759765E-4	.
18	33067792	A	C	18	35487828	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.17722233272875E-4	.
18	33067792	A	G	18	35487828	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.17722233272875E-4	.
18	33067792	A	T	18	35487828	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.12579906640914E-4	.
18	33067793	A	C	18	35487829	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.01881022775984E-4	.
18	33067793	A	G	18	35487829	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.01881022775984E-4	.
18	33067793	A	T	18	35487829	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.06462586245614E-4	.
18	33067794	A	C	18	35487830	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.06462586245614E-4	.
18	33067794	A	G	18	35487830	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.06462586245614E-4	.
18	33067794	A	T	18	35487830	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.04315131639569E-4	.
18	33067795	A	C	18	35487831	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.04315131639569E-4	.
18	33067795	A	G	18	35487831	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.04315131639569E-4	.
18	33067795	A	T	18	35487831	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.57707535557379E-4	.
18	33067796	T	A	18	35487832	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.33798149767253E-4	.
18	33067796	T	C	18	35487832	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.57707535557379E-4	.
18	33067796	T	G	18	35487832	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.57707535557379E-4	.
18	33067797	C	A	18	35487833	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.5962996546289E-4	.
18	33067797	C	G	18	35487833	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.5962996546289E-4	.
18	33067797	C	T	18	35487833	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.58000294153284E-4	.
18	33067798	A	C	18	35487834	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.33798149767253E-4	.
18	33067798	A	G	18	35487834	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.33798149767253E-4	.
18	33067798	A	T	18	35487834	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.73798724073793E-4	.
18	33067799	A	C	18	35487835	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.73798724073793E-4	.
18	33067799	A	G	18	35487835	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.73798724073793E-4	.
18	33067799	A	T	18	35487835	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.38122964016374E-4	.
18	33069288	G	A	18	35489324	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00106811401797567	0.014
18	33069288	G	C	18	35489324	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00147214636586788	0.024
18	33069288	G	T	18	35489324	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00131566385872319	0.018
18	33069289	G	A	18	35489325	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00274763811678166	0.162
18	33069289	G	C	18	35489325	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00143397696035901	0.022
18	33069289	G	T	18	35489325	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.2990932150656E-4	0.018
18	33069290	A	C	18	35489326	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.813183964279054	0.718
18	33069290	A	G	18	35489326	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.931521648029064	0.796
18	33069290	A	T	18	35489326	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.964500813544809	0.67
18	33069291	C	A	18	35489327	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999964740825659	0.95
18	33069291	C	G	18	35489327	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999972071053613	0.94
18	33069291	C	T	18	35489327	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999984906224506	0.956
18	33069292	T	A	18	35489328	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.998507317431037	0.732
18	33069292	T	C	18	35489328	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999025411401674	0.83
18	33069292	T	G	18	35489328	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.990662653712397	0.668
18	33069293	C	A	18	35489329	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.998536808560123	0.718
18	33069293	C	G	18	35489329	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.998580874373401	0.72
18	33069293	C	T	18	35489329	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.31442781758994E-4	0.014
18	33069294	A	C	18	35489330	y	y	splicing	INO80C(NM_001098817:exon3:c.210+2T>G)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.210+2T>G;ENST00000586449:exon3:c.210+2T>G)	.	.	0.999987827144185	0.902
18	33069294	A	G	18	35489330	y	y	splicing	INO80C(NM_001098817:exon3:c.210+2T>C)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.210+2T>C;ENST00000586449:exon3:c.210+2T>C)	.	.	0.999938144315504	0.882
18	33069294	A	T	18	35489330	y	y	splicing	INO80C(NM_001098817:exon3:c.210+2T>A)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.210+2T>A;ENST00000586449:exon3:c.210+2T>A)	.	.	0.999990629064744	0.9
18	33069295	C	A	18	35489331	y	y	splicing	INO80C(NM_001098817:exon3:c.210+1G>T)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.210+1G>T;ENST00000586449:exon3:c.210+1G>T)	.	.	0.999949366401994	0.902
18	33069295	C	G	18	35489331	y	y	splicing	INO80C(NM_001098817:exon3:c.210+1G>C)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.210+1G>C;ENST00000586449:exon3:c.210+1G>C)	.	.	0.999949366401994	0.904
18	33069295	C	T	18	35489331	y	y	splicing	INO80C(NM_001098817:exon3:c.210+1G>A)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.210+1G>A;ENST00000586449:exon3:c.210+1G>A)	.	.	0.999980378146777	0.902
18	33069296	A	C	18	35489332	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon2:c.T210G:p.T70T;	exonic	ENSG00000153391	synonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.T210G:p.T70T;ENSG00000153391:ENST00000586449:exon2:c.T210G:p.T70T;	0.00216233810933868	0.148
18	33069296	A	G	18	35489332	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon2:c.T210C:p.T70T;	exonic	ENSG00000153391	synonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.T210C:p.T70T;ENSG00000153391:ENST00000586449:exon2:c.T210C:p.T70T;	0.00388416228153372	0.286
18	33069296	A	T	18	35489332	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon2:c.T210A:p.T70T;	exonic	ENSG00000153391	synonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.T210A:p.T70T;ENSG00000153391:ENST00000586449:exon2:c.T210A:p.T70T;	2.31268419801649E-4	0.016
18	33069297	G	A	18	35489333	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.C209T:p.T70I;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.C209T:p.T70I;ENSG00000153391:ENST00000586449:exon2:c.C209T:p.T70I;	0.00180103132911053	0.028
18	33069297	G	C	18	35489333	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.C209G:p.T70S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.C209G:p.T70S;ENSG00000153391:ENST00000586449:exon2:c.C209G:p.T70S;	0.00251029533140428	0.064
18	33069297	G	T	18	35489333	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.C209A:p.T70N;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.C209A:p.T70N;ENSG00000153391:ENST00000586449:exon2:c.C209A:p.T70N;	0.00301787746006698	0.172
18	33069298	T	A	18	35489334	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.A208T:p.T70S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.A208T:p.T70S;ENSG00000153391:ENST00000586449:exon2:c.A208T:p.T70S;	0.00506159625910808	0.268
18	33069298	T	C	18	35489334	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.A208G:p.T70A;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.A208G:p.T70A;ENSG00000153391:ENST00000586449:exon2:c.A208G:p.T70A;	0.00406560430668561	0.134
18	33069298	T	G	18	35489334	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.A208C:p.T70P;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.A208C:p.T70P;ENSG00000153391:ENST00000586449:exon2:c.A208C:p.T70P;	3.49544816432591E-4	0.018
18	33069348	G	A	18	35489384	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.C158T:p.T53M;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.C158T:p.T53M;ENSG00000153391:ENST00000586449:exon2:c.C158T:p.T53M;	2.1524785681781E-4	.
18	33069348	G	C	18	35489384	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.C158G:p.T53R;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.C158G:p.T53R;ENSG00000153391:ENST00000586449:exon2:c.C158G:p.T53R;	7.86191479403671E-4	.
18	33069348	G	T	18	35489384	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.C158A:p.T53K;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.C158A:p.T53K;ENSG00000153391:ENST00000586449:exon2:c.C158A:p.T53K;	0.00298021130514555	.
18	33069349	T	A	18	35489385	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.A157T:p.T53S;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.A157T:p.T53S;ENSG00000153391:ENST00000586449:exon2:c.A157T:p.T53S;	7.52678210129898E-5	.
18	33069349	T	C	18	35489385	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.A157G:p.T53A;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.A157G:p.T53A;ENSG00000153391:ENST00000586449:exon2:c.A157G:p.T53A;	1.02306446399019E-5	.
18	33069349	T	G	18	35489385	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon2:c.A157C:p.T53P;	exonic	ENSG00000153391	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon2:c.A157C:p.T53P;ENSG00000153391:ENST00000586449:exon2:c.A157C:p.T53P;	1.06138268261535E-4	.
18	33069350	C	A	18	35489386	y	y	splicing	INO80C(NM_001098817:exon3:c.157-1G>T)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.157-1G>T;ENST00000586449:exon3:c.157-1G>T)	.	.	0.999635909388647	.
18	33069350	C	G	18	35489386	y	y	splicing	INO80C(NM_001098817:exon3:c.157-1G>C)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.157-1G>C;ENST00000586449:exon3:c.157-1G>C)	.	.	0.99956670997412	.
18	33069350	C	T	18	35489386	y	y	splicing	INO80C(NM_001098817:exon3:c.157-1G>A)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.157-1G>A;ENST00000586449:exon3:c.157-1G>A)	.	.	0.999635909388647	.
18	33069351	T	A	18	35489387	y	y	splicing	INO80C(NM_001098817:exon3:c.157-2A>T)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.157-2A>T;ENST00000586449:exon3:c.157-2A>T)	.	.	0.999774098698674	.
18	33069351	T	C	18	35489387	y	y	splicing	INO80C(NM_001098817:exon3:c.157-2A>G)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.157-2A>G;ENST00000586449:exon3:c.157-2A>G)	.	.	0.999774098698674	.
18	33069351	T	G	18	35489387	y	y	splicing	INO80C(NM_001098817:exon3:c.157-2A>C)	.	.	splicing	ENSG00000153391(ENST00000441607:exon3:c.157-2A>C;ENST00000586449:exon3:c.157-2A>C)	.	.	0.999774098698674	.
18	33069352	T	A	18	35489388	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.08354995685128E-4	.
18	33069352	T	C	18	35489388	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00765182185013852	.
18	33069352	T	G	18	35489388	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00100884146964117	.
18	33069353	A	C	18	35489389	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00222679169302279	.
18	33069353	A	G	18	35489389	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.90051980008093E-4	.
18	33069353	A	T	18	35489389	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.82018852893979E-4	.
18	33069354	C	A	18	35489390	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.68598656888746E-4	.
18	33069354	C	G	18	35489390	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.79035150477241E-4	.
18	33069354	C	T	18	35489390	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0033107704818564	.
18	33069355	A	C	18	35489391	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999651449968883	.
18	33069355	A	G	18	35489391	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.59946590564347E-4	.
18	33069355	A	T	18	35489391	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999450884957348	.
18	33069356	T	A	18	35489392	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.49808415684225E-4	.
18	33069356	T	C	18	35489392	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00187394889479052	.
18	33069356	T	G	18	35489392	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.61124513478383E-4	.
18	33069357	G	A	18	35489393	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.3511180664838E-4	.
18	33069357	G	C	18	35489393	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.017794123927826	.
18	33069357	G	T	18	35489393	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0106323670320517	.
18	33069358	G	A	18	35489394	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.58474948441486E-4	.
18	33069358	G	C	18	35489394	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.35809376733988E-4	.
18	33069358	G	T	18	35489394	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.77183793454985E-4	.
18	33069359	C	A	18	35489395	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.50286355001101E-4	.
18	33069359	C	G	18	35489395	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.44098829003431E-4	.
18	33069359	C	T	18	35489395	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00229419409004719	.
18	33069360	A	C	18	35489396	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.985042889259489	.
18	33069360	A	G	18	35489396	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.511289591822482	.
18	33069360	A	T	18	35489396	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.999619966255612	.
18	33069361	G	A	18	35489397	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.66602463864358E-4	.
18	33069361	G	C	18	35489397	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	5.35809376733988E-4	.
18	33069361	G	T	18	35489397	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.43446797628949E-4	.
18	33076731	C	A	18	35496767	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.57123356397867E-5	0.016
18	33076731	C	G	18	35496767	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.57123356397867E-5	0.018
18	33076731	C	T	18	35496767	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.57123356397867E-5	0.02
18	33076732	C	A	18	35496768	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.37501361942679E-5	0.002
18	33076732	C	G	18	35496768	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.37501361942679E-5	0.002
18	33076732	C	T	18	35496768	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.37501361942679E-5	0.002
18	33076733	T	A	18	35496769	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076733	T	C	18	35496769	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076733	T	G	18	35496769	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076734	C	A	18	35496770	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.95241758590049E-5	0.0
18	33076734	C	G	18	35496770	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.95241758590049E-5	0.0
18	33076734	C	T	18	35496770	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.01578748569253E-5	0.0
18	33076735	T	A	18	35496771	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076735	T	C	18	35496771	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076735	T	G	18	35496771	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076736	C	A	18	35496772	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.57123356397867E-5	0.018
18	33076736	C	G	18	35496772	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.57123356397867E-5	0.018
18	33076736	C	T	18	35496772	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	9.57123356397867E-5	0.018
18	33076737	A	C	18	35496773	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	3.78864525412067E-5	0.0
18	33076737	A	G	18	35496773	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	3.78864525412067E-5	0.0
18	33076737	A	T	18	35496773	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	3.78864525412067E-5	0.0
18	33076738	C	A	18	35496774	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	9.57123356397867E-5	0.01
18	33076738	C	G	18	35496774	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	9.57123356397867E-5	0.01
18	33076738	C	T	18	35496774	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	9.57123356397867E-5	0.01
18	33076739	C	A	18	35496775	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	1.67406935090243E-5	0.0
18	33076739	C	G	18	35496775	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	1.67406935090243E-5	0.0
18	33076739	C	T	18	35496775	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	1.67406935090243E-5	0.0
18	33076740	T	A	18	35496776	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	6.7395485643605E-5	0.006
18	33076740	T	C	18	35496776	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	2.83935518155002E-5	0.004
18	33076740	T	G	18	35496776	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	5.9149404486172E-5	0.004
18	33076741	T	A	18	35496777	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	6.7395485643605E-5	0.008
18	33076741	T	C	18	35496777	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	6.7395485643605E-5	0.008
18	33076741	T	G	18	35496777	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	6.7395485643605E-5	0.008
18	33076845	T	A	18	35496881	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	5.10250552304391E-5	0.0
18	33076845	T	C	18	35496881	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	3.30338091304305E-5	0.0
18	33076845	T	G	18	35496881	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	3.30338091304305E-5	0.0
18	33076846	A	C	18	35496882	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	2.41036740142694E-4	0.008
18	33076846	A	G	18	35496882	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	2.41036740142694E-4	0.008
18	33076846	A	T	18	35496882	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	2.41036740142694E-4	0.002
18	33076847	C	A	18	35496883	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	7.687767965882E-5	0.07
18	33076847	C	G	18	35496883	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	7.687767965882E-5	0.07
18	33076847	C	T	18	35496883	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	7.687767965882E-5	0.092
18	33076848	T	A	18	35496884	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	4.08802802279601E-5	0.004
18	33076848	T	C	18	35496884	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	3.78864525412067E-5	0.002
18	33076848	T	G	18	35496884	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	3.78864525412067E-5	0.002
18	33076849	A	C	18	35496885	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.07620641825897E-5	0.0
18	33076849	A	G	18	35496885	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.07620641825897E-5	0.0
18	33076849	A	T	18	35496885	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.31929338280547E-5	0.0
18	33076850	T	A	18	35496886	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.08802802279601E-5	0.0
18	33076850	T	C	18	35496886	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076850	T	G	18	35496886	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076851	A	C	18	35496887	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.78716126261033E-5	0.0
18	33076851	A	G	18	35496887	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.78716126261033E-5	0.0
18	33076851	A	T	18	35496887	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	8.70081261255395E-5	0.0
18	33076852	G	A	18	35496888	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.03359245426808E-5	0.008
18	33076852	G	C	18	35496888	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.03359245426808E-5	0.008
18	33076852	G	T	18	35496888	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.03359245426808E-5	0.008
18	33076853	C	A	18	35496889	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.004
18	33076853	C	G	18	35496889	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.45277156108894E-5	0.002
18	33076853	C	T	18	35496889	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.78864525412067E-5	0.0
18	33076854	A	C	18	35496890	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.82827935381688E-5	0.014
18	33076854	A	G	18	35496890	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.82827935381688E-5	0.014
18	33076854	A	T	18	35496890	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.82827935381688E-5	0.004
18	33076855	A	C	18	35496891	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.41036740142694E-4	0.002
18	33076855	A	G	18	35496891	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.41036740142694E-4	0.002
18	33076855	A	T	18	35496891	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.46039206459424E-4	0.0
18	33076856	A	C	18	35496892	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.68433810549259E-5	0.0
18	33076856	A	G	18	35496892	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.68433810549259E-5	0.0
18	33076856	A	T	18	35496892	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.68433810549259E-5	0.0
18	33076857	G	A	18	35496893	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.80283194928756E-5	0.0
18	33076857	G	C	18	35496893	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.80283194928756E-5	0.0
18	33076857	G	T	18	35496893	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.80283194928756E-5	0.0
18	33076858	T	A	18	35496894	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.7395485643605E-5	0.006
18	33076858	T	C	18	35496894	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.83935518155002E-5	0.0
18	33076858	T	G	18	35496894	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.83935518155002E-5	0.0
18	33077462	C	A	18	35497498	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.88711186747635E-4	0.002
18	33077462	C	G	18	35497498	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.44691380130809E-4	0.0
18	33077462	C	T	18	35497498	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.89358768570465E-4	0.016
18	33077463	T	A	18	35497499	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.05195466099654E-4	0.016
18	33077463	T	C	18	35497499	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.13995499723005E-4	0.012
18	33077463	T	G	18	35497499	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.13995499723005E-4	0.012
18	33077464	C	A	18	35497500	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.38603341338827E-4	0.002
18	33077464	C	G	18	35497500	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.03839229791523E-4	0.006
18	33077464	C	T	18	35497500	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.44551275265223E-5	0.002
18	33077465	C	A	18	35497501	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	8.67378569920084E-5	0.004
18	33077465	C	G	18	35497501	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	8.67378569920084E-5	0.004
18	33077465	C	T	18	35497501	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	8.67378569920084E-5	0.004
18	33077466	C	A	18	35497502	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00198618773692183	0.026
18	33077466	C	G	18	35497502	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00167580363470115	0.022
18	33077466	C	T	18	35497502	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.00106785622096292	0.026
18	33077467	T	A	18	35497503	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.04278140930798E-5	0.002
18	33077467	T	C	18	35497503	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.04278140930798E-5	0.002
18	33077467	T	G	18	35497503	n	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.04278140930798E-5	0.002
18	33077468	A	C	18	35497504	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	8.46054017672216E-5	0.0
18	33077468	A	G	18	35497504	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	8.46054017672216E-5	0.0
18	33077468	A	T	18	35497504	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	9.84456941936662E-5	0.0
18	33077469	C	A	18	35497505	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	9.47687204948838E-5	0.04
18	33077469	C	G	18	35497505	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	9.47687204948838E-5	0.04
18	33077469	C	T	18	35497505	n	y	intronic	INO80C	.	.	splicing	ENSG00000153391	.	.	9.47687204948838E-5	0.04
18	33077470	T	A	18	35497506	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	5.15941453541388E-5	0.0
18	33077470	T	C	18	35497506	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	5.15941453541388E-5	0.002
18	33077470	T	G	18	35497506	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	5.15941453541388E-5	0.002
18	33077471	T	A	18	35497507	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	1.1193638191297E-4	0.002
18	33077471	T	C	18	35497507	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	4.17119222840784E-5	0.002
18	33077471	T	G	18	35497507	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	4.17119222840784E-5	0.002
18	33077472	C	A	18	35497508	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	2.12967705479703E-5	0.002
18	33077472	C	G	18	35497508	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	2.12967705479703E-5	0.002
18	33077472	C	T	18	35497508	n	y	intronic	INO80C	.	.	UTR5	ENSG00000153391	.	.	2.12967705479703E-5	0.004
18	33077675	C	A	18	35497711	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.98708518767451E-5	0.02
18	33077675	C	G	18	35497711	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.69248895243238E-5	0.0
18	33077675	C	T	18	35497711	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.06261776455139E-5	0.024
18	33077676	T	A	18	35497712	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.98981479510398E-4	0.002
18	33077676	T	C	18	35497712	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.98981479510398E-4	0.0
18	33077676	T	G	18	35497712	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	6.76763023902623E-5	0.0
18	33077677	G	A	18	35497713	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.16092894884843E-4	0.006
18	33077677	G	C	18	35497713	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	1.07213144070808E-4	0.026
18	33077677	G	T	18	35497713	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	3.11038511498278E-4	0.028
18	33077678	C	A	18	35497714	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.904737190176065	0.604
18	33077678	C	G	18	35497714	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.774550976999277	0.592
18	33077678	C	T	18	35497714	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.908840946583417	0.572
18	33077679	G	A	18	35497715	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	4.62064308231417E-5	0.012
18	33077679	G	C	18	35497715	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	2.67529027676403E-4	0.002
18	33077679	G	T	18	35497715	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	7.42520255961793E-5	0.044
18	33077680	T	A	18	35497716	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.994387340443811	0.668
18	33077680	T	C	18	35497716	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.0345729430473988	0.178
18	33077680	T	G	18	35497716	y	y	intronic	INO80C	.	.	intronic	ENSG00000153391;ENSG00000267140	.	.	0.98682417988827	0.62
18	33077681	A	C	18	35497717	y	y	splicing	INO80C(NM_194281:exon2:c.156+2T>G;NM_001098817:exon2:c.156+2T>G)	.	.	splicing	ENSG00000153391(ENST00000592173:exon2:c.156+2T>G;ENST00000334598:exon2:c.156+2T>G;ENST00000590757:exon2:c.156+2T>G;ENST00000441607:exon2:c.156+2T>G;ENST00000587450:exon2:c.156+2T>G;ENST00000586449:exon2:c.156+2T>G);ENSG00000267140(ENST00000589258:exon2:c.156+2T>G)	.	.	0.999962958601995	0.83
18	33077681	A	G	18	35497717	y	y	splicing	INO80C(NM_194281:exon2:c.156+2T>C;NM_001098817:exon2:c.156+2T>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon2:c.156+2T>C;ENST00000334598:exon2:c.156+2T>C;ENST00000590757:exon2:c.156+2T>C;ENST00000441607:exon2:c.156+2T>C;ENST00000587450:exon2:c.156+2T>C;ENST00000586449:exon2:c.156+2T>C);ENSG00000267140(ENST00000589258:exon2:c.156+2T>C)	.	.	0.90010953686883	0.542
18	33077681	A	T	18	35497717	y	y	splicing	INO80C(NM_194281:exon2:c.156+2T>A;NM_001098817:exon2:c.156+2T>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon2:c.156+2T>A;ENST00000334598:exon2:c.156+2T>A;ENST00000590757:exon2:c.156+2T>A;ENST00000441607:exon2:c.156+2T>A;ENST00000587450:exon2:c.156+2T>A;ENST00000586449:exon2:c.156+2T>A);ENSG00000267140(ENST00000589258:exon2:c.156+2T>A)	.	.	0.999969255906173	0.846
18	33077682	C	A	18	35497718	y	y	splicing	INO80C(NM_194281:exon2:c.156+1G>T;NM_001098817:exon2:c.156+1G>T)	.	.	splicing	ENSG00000153391(ENST00000592173:exon2:c.156+1G>T;ENST00000334598:exon2:c.156+1G>T;ENST00000590757:exon2:c.156+1G>T;ENST00000441607:exon2:c.156+1G>T;ENST00000587450:exon2:c.156+1G>T;ENST00000586449:exon2:c.156+1G>T);ENSG00000267140(ENST00000589258:exon2:c.156+1G>T)	.	.	0.999960200702261	0.938
18	33077682	C	G	18	35497718	y	y	splicing	INO80C(NM_194281:exon2:c.156+1G>C;NM_001098817:exon2:c.156+1G>C)	.	.	splicing	ENSG00000153391(ENST00000592173:exon2:c.156+1G>C;ENST00000334598:exon2:c.156+1G>C;ENST00000590757:exon2:c.156+1G>C;ENST00000441607:exon2:c.156+1G>C;ENST00000587450:exon2:c.156+1G>C;ENST00000586449:exon2:c.156+1G>C);ENSG00000267140(ENST00000589258:exon2:c.156+1G>C)	.	.	0.999958812450268	0.936
18	33077682	C	T	18	35497718	y	y	splicing	INO80C(NM_194281:exon2:c.156+1G>A;NM_001098817:exon2:c.156+1G>A)	.	.	splicing	ENSG00000153391(ENST00000592173:exon2:c.156+1G>A;ENST00000334598:exon2:c.156+1G>A;ENST00000590757:exon2:c.156+1G>A;ENST00000441607:exon2:c.156+1G>A;ENST00000587450:exon2:c.156+1G>A;ENST00000586449:exon2:c.156+1G>A);ENSG00000267140(ENST00000589258:exon2:c.156+1G>A)	.	.	0.999960200702261	0.938
18	33077683	C	A	18	35497719	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.G156T:p.Q52H;INO80C:NM_194281:exon1:c.G156T:p.Q52H;	exonic	ENSG00000153391;ENSG00000267140	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon1:c.G156T:p.Q52H;ENSG00000153391:ENST00000334598:exon1:c.G156T:p.Q52H;ENSG00000153391:ENST00000587450:exon1:c.G156T:p.Q52H;ENSG00000153391:ENST00000586449:exon1:c.G156T:p.Q52H;ENSG00000267140:ENST00000589258:exon1:c.G156T:p.Q52H;ENSG00000153391:ENST00000590757:exon1:c.G156T:p.Q52H;ENSG00000153391:ENST00000592173:exon1:c.G156T:p.Q52H;	0.999981098862585	0.994
18	33077683	C	G	18	35497719	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.G156C:p.Q52H;INO80C:NM_194281:exon1:c.G156C:p.Q52H;	exonic	ENSG00000153391;ENSG00000267140	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon1:c.G156C:p.Q52H;ENSG00000153391:ENST00000334598:exon1:c.G156C:p.Q52H;ENSG00000153391:ENST00000587450:exon1:c.G156C:p.Q52H;ENSG00000153391:ENST00000586449:exon1:c.G156C:p.Q52H;ENSG00000267140:ENST00000589258:exon1:c.G156C:p.Q52H;ENSG00000153391:ENST00000590757:exon1:c.G156C:p.Q52H;ENSG00000153391:ENST00000592173:exon1:c.G156C:p.Q52H;	0.999990475985932	0.994
18	33077683	C	T	18	35497719	y	y	exonic	INO80C	synonymous SNV	INO80C:NM_001098817:exon1:c.G156A:p.Q52Q;INO80C:NM_194281:exon1:c.G156A:p.Q52Q;	exonic	ENSG00000153391;ENSG00000267140	synonymous SNV	ENSG00000153391:ENST00000441607:exon1:c.G156A:p.Q52Q;ENSG00000153391:ENST00000334598:exon1:c.G156A:p.Q52Q;ENSG00000153391:ENST00000587450:exon1:c.G156A:p.Q52Q;ENSG00000153391:ENST00000586449:exon1:c.G156A:p.Q52Q;ENSG00000267140:ENST00000589258:exon1:c.G156A:p.Q52Q;ENSG00000153391:ENST00000590757:exon1:c.G156A:p.Q52Q;ENSG00000153391:ENST00000592173:exon1:c.G156A:p.Q52Q;	0.999774283041984	0.934
18	33077684	T	A	18	35497720	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.A155T:p.Q52L;INO80C:NM_194281:exon1:c.A155T:p.Q52L;	exonic	ENSG00000153391;ENSG00000267140	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon1:c.A155T:p.Q52L;ENSG00000153391:ENST00000334598:exon1:c.A155T:p.Q52L;ENSG00000153391:ENST00000587450:exon1:c.A155T:p.Q52L;ENSG00000153391:ENST00000586449:exon1:c.A155T:p.Q52L;ENSG00000267140:ENST00000589258:exon1:c.A155T:p.Q52L;ENSG00000153391:ENST00000590757:exon1:c.A155T:p.Q52L;ENSG00000153391:ENST00000592173:exon1:c.A155T:p.Q52L;	0.999564960187624	0.972
18	33077684	T	C	18	35497720	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.A155G:p.Q52R;INO80C:NM_194281:exon1:c.A155G:p.Q52R;	exonic	ENSG00000153391;ENSG00000267140	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon1:c.A155G:p.Q52R;ENSG00000153391:ENST00000334598:exon1:c.A155G:p.Q52R;ENSG00000153391:ENST00000587450:exon1:c.A155G:p.Q52R;ENSG00000153391:ENST00000586449:exon1:c.A155G:p.Q52R;ENSG00000267140:ENST00000589258:exon1:c.A155G:p.Q52R;ENSG00000153391:ENST00000590757:exon1:c.A155G:p.Q52R;ENSG00000153391:ENST00000592173:exon1:c.A155G:p.Q52R;	0.999526550116117	0.982
18	33077684	T	G	18	35497720	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.A155C:p.Q52P;INO80C:NM_194281:exon1:c.A155C:p.Q52P;	exonic	ENSG00000153391;ENSG00000267140	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon1:c.A155C:p.Q52P;ENSG00000153391:ENST00000334598:exon1:c.A155C:p.Q52P;ENSG00000153391:ENST00000587450:exon1:c.A155C:p.Q52P;ENSG00000153391:ENST00000586449:exon1:c.A155C:p.Q52P;ENSG00000267140:ENST00000589258:exon1:c.A155C:p.Q52P;ENSG00000153391:ENST00000590757:exon1:c.A155C:p.Q52P;ENSG00000153391:ENST00000592173:exon1:c.A155C:p.Q52P;	0.997069107012639	0.944
18	33077685	G	A	18	35497721	y	y	exonic	INO80C	stopgain SNV	INO80C:NM_001098817:exon1:c.C154T:p.Q52X;INO80C:NM_194281:exon1:c.C154T:p.Q52X;	exonic	ENSG00000153391;ENSG00000267140	stopgain SNV	ENSG00000153391:ENST00000441607:exon1:c.C154T:p.Q52X;ENSG00000153391:ENST00000334598:exon1:c.C154T:p.Q52X;ENSG00000153391:ENST00000587450:exon1:c.C154T:p.Q52X;ENSG00000153391:ENST00000586449:exon1:c.C154T:p.Q52X;ENSG00000267140:ENST00000589258:exon1:c.C154T:p.Q52X;ENSG00000153391:ENST00000590757:exon1:c.C154T:p.Q52X;ENSG00000153391:ENST00000592173:exon1:c.C154T:p.Q52X;	0.998311321564974	0.932
18	33077685	G	C	18	35497721	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.C154G:p.Q52E;INO80C:NM_194281:exon1:c.C154G:p.Q52E;	exonic	ENSG00000153391;ENSG00000267140	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon1:c.C154G:p.Q52E;ENSG00000153391:ENST00000334598:exon1:c.C154G:p.Q52E;ENSG00000153391:ENST00000587450:exon1:c.C154G:p.Q52E;ENSG00000153391:ENST00000586449:exon1:c.C154G:p.Q52E;ENSG00000267140:ENST00000589258:exon1:c.C154G:p.Q52E;ENSG00000153391:ENST00000590757:exon1:c.C154G:p.Q52E;ENSG00000153391:ENST00000592173:exon1:c.C154G:p.Q52E;	0.797662791086692	0.564
18	33077685	G	T	18	35497721	y	y	exonic	INO80C	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.C154A:p.Q52K;INO80C:NM_194281:exon1:c.C154A:p.Q52K;	exonic	ENSG00000153391;ENSG00000267140	nonsynonymous SNV	ENSG00000153391:ENST00000441607:exon1:c.C154A:p.Q52K;ENSG00000153391:ENST00000334598:exon1:c.C154A:p.Q52K;ENSG00000153391:ENST00000587450:exon1:c.C154A:p.Q52K;ENSG00000153391:ENST00000586449:exon1:c.C154A:p.Q52K;ENSG00000267140:ENST00000589258:exon1:c.C154A:p.Q52K;ENSG00000153391:ENST00000590757:exon1:c.C154A:p.Q52K;ENSG00000153391:ENST00000592173:exon1:c.C154A:p.Q52K;	0.945902241914032	0.738
18	33234512	C	A	18	35654548	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.05445749623684E-5	0.008
18	33234512	C	G	18	35654548	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.05445749623684E-5	0.008
18	33234512	C	T	18	35654548	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.08200219723916E-5	0.008
18	33234513	T	A	18	35654549	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.43190807654434E-4	0.0
18	33234513	T	C	18	35654549	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.57835689468231E-4	0.002
18	33234513	T	G	18	35654549	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.57835689468231E-4	0.002
18	33234514	T	A	18	35654550	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.41066847823695E-4	0.036
18	33234514	T	C	18	35654550	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.01340723066347E-4	0.004
18	33234514	T	G	18	35654550	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.01340723066347E-4	0.006
18	33234515	T	A	18	35654551	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00356054814926976	0.09
18	33234515	T	C	18	35654551	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00303296796623934	0.086
18	33234515	T	G	18	35654551	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00303296796623934	0.086
18	33234516	C	A	18	35654552	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.15913973382954E-5	0.026
18	33234516	C	G	18	35654552	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.10804595655125E-5	0.026
18	33234516	C	T	18	35654552	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.15913973382954E-5	0.024
18	33234517	T	A	18	35654553	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.901833099062358	0.754
18	33234517	T	C	18	35654553	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.901833099062358	0.77
18	33234517	T	G	18	35654553	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.901833099062358	0.768
18	33234518	C	A	18	35654554	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.39572927897336E-4	0.036
18	33234518	C	G	18	35654554	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.39572927897336E-4	0.044
18	33234518	C	T	18	35654554	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.67303408890281E-5	0.018
18	33234519	T	A	18	35654555	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0523669217765858	0.258
18	33234519	T	C	18	35654555	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0523669217765858	0.252
18	33234519	T	G	18	35654555	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0523669217765858	0.252
18	33234520	A	C	18	35654556	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.11129302034047E-4	0.108
18	33234520	A	G	18	35654556	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.11129302034047E-4	0.108
18	33234520	A	T	18	35654556	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.25127277867221E-4	0.118
18	33234521	T	A	18	35654557	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00940319692440329	0.168
18	33234521	T	C	18	35654557	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00940319692440329	0.196
18	33234521	T	G	18	35654557	n	y	upstream	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00940319692440329	0.182
18	33234522	A	C	18	35654558	n	y	upstream	GALNT1	.	.	splicing	ENSG00000141429	.	.	0.898286168217306	0.852
18	33234522	A	G	18	35654558	n	y	upstream	GALNT1	.	.	splicing	ENSG00000141429	.	.	0.898286168217306	0.852
18	33234522	A	T	18	35654558	n	y	upstream	GALNT1	.	.	splicing	ENSG00000141429	.	.	0.910900176831149	0.858
18	33234523	G	A	18	35654559	n	y	upstream	GALNT1	.	.	splicing	ENSG00000141429	.	.	0.992857727243738	0.922
18	33234523	G	C	18	35654559	n	y	upstream	GALNT1	.	.	splicing	ENSG00000141429	.	.	0.994463269283841	0.92
18	33234523	G	T	18	35654559	n	y	upstream	GALNT1	.	.	splicing	ENSG00000141429	.	.	0.994463269283841	0.926
18	33234524	G	A	18	35654560	n	y	upstream	GALNT1	.	.	UTR5	ENSG00000141429	.	.	0.995030058536757	0.894
18	33234524	G	C	18	35654560	n	y	upstream	GALNT1	.	.	UTR5	ENSG00000141429	.	.	0.995030058536757	0.874
18	33234524	G	T	18	35654560	n	y	upstream	GALNT1	.	.	UTR5	ENSG00000141429	.	.	0.995030058536757	0.886
18	33234525	G	A	18	35654561	n	y	upstream	GALNT1	.	.	UTR5	ENSG00000141429	.	.	1.28051689324516E-4	0.138
18	33234525	G	C	18	35654561	n	y	upstream	GALNT1	.	.	UTR5	ENSG00000141429	.	.	1.28051689324516E-4	0.14
18	33234525	G	T	18	35654561	n	y	upstream	GALNT1	.	.	UTR5	ENSG00000141429	.	.	1.28051689324516E-4	0.138
18	33234763	A	C	18	35654799	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon1:c.A137C:p.D46A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.A137C:p.D46A;ENSG00000141429:ENST00000590654:exon1:c.A137C:p.D46A;ENSG00000141429:ENST00000591081:exon1:c.A137C:p.D46A;ENSG00000141429:ENST00000591924:exon2:c.A137C:p.D46A;ENSG00000141429:ENST00000269195:exon1:c.A137C:p.D46A;	0.0017297611168702	0.012
18	33234763	A	G	18	35654799	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon1:c.A137G:p.D46G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.A137G:p.D46G;ENSG00000141429:ENST00000590654:exon1:c.A137G:p.D46G;ENSG00000141429:ENST00000591081:exon1:c.A137G:p.D46G;ENSG00000141429:ENST00000591924:exon2:c.A137G:p.D46G;ENSG00000141429:ENST00000269195:exon1:c.A137G:p.D46G;	0.0250425937119007	0.132
18	33234763	A	T	18	35654799	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon1:c.A137T:p.D46V;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.A137T:p.D46V;ENSG00000141429:ENST00000590654:exon1:c.A137T:p.D46V;ENSG00000141429:ENST00000591081:exon1:c.A137T:p.D46V;ENSG00000141429:ENST00000591924:exon2:c.A137T:p.D46V;ENSG00000141429:ENST00000269195:exon1:c.A137T:p.D46V;	0.103717202258099	0.26
18	33234764	T	A	18	35654800	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon1:c.T138A:p.D46E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.T138A:p.D46E;ENSG00000141429:ENST00000590654:exon1:c.T138A:p.D46E;ENSG00000141429:ENST00000591081:exon1:c.T138A:p.D46E;ENSG00000141429:ENST00000591924:exon2:c.T138A:p.D46E;ENSG00000141429:ENST00000269195:exon1:c.T138A:p.D46E;	1.81154805185333E-4	0.14
18	33234764	T	C	18	35654800	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon1:c.T138C:p.D46D;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.T138C:p.D46D;ENSG00000141429:ENST00000590654:exon1:c.T138C:p.D46D;ENSG00000141429:ENST00000591081:exon1:c.T138C:p.D46D;ENSG00000141429:ENST00000591924:exon2:c.T138C:p.D46D;ENSG00000141429:ENST00000269195:exon1:c.T138C:p.D46D;	7.99149199236396E-4	0.012
18	33234764	T	G	18	35654800	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon1:c.T138G:p.D46E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.T138G:p.D46E;ENSG00000141429:ENST00000590654:exon1:c.T138G:p.D46E;ENSG00000141429:ENST00000591081:exon1:c.T138G:p.D46E;ENSG00000141429:ENST00000591924:exon2:c.T138G:p.D46E;ENSG00000141429:ENST00000269195:exon1:c.T138G:p.D46E;	6.92208949073187E-4	0.012
18	33234765	G	A	18	35654801	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon1:c.G139A:p.V47I;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.G139A:p.V47I;ENSG00000141429:ENST00000590654:exon1:c.G139A:p.A47T;ENSG00000141429:ENST00000591081:exon1:c.G139A:p.V47I;ENSG00000141429:ENST00000591924:exon2:c.G139A:p.V47I;ENSG00000141429:ENST00000269195:exon1:c.G139A:p.V47I;	0.997808037233634	0.874
18	33234765	G	C	18	35654801	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon1:c.G139C:p.V47L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.G139C:p.V47L;ENSG00000141429:ENST00000590654:exon1:c.G139C:p.A47P;ENSG00000141429:ENST00000591081:exon1:c.G139C:p.V47L;ENSG00000141429:ENST00000591924:exon2:c.G139C:p.V47L;ENSG00000141429:ENST00000269195:exon1:c.G139C:p.V47L;	0.98021992185809	0.564
18	33234765	G	T	18	35654801	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon1:c.G139T:p.V47F;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon2:c.G139T:p.V47F;ENSG00000141429:ENST00000590654:exon1:c.G139T:p.A47S;ENSG00000141429:ENST00000591081:exon1:c.G139T:p.V47F;ENSG00000141429:ENST00000591924:exon2:c.G139T:p.V47F;ENSG00000141429:ENST00000269195:exon1:c.G139T:p.V47F;	0.98635586999225	0.658
18	33234766	G	A	18	35654802	y	y	splicing	GALNT1(NM_020474:exon1:c.139+1G>A)	.	.	splicing	ENSG00000141429(ENST00000591924:exon2:c.139+1G>A;ENST00000589189:exon2:c.139+1G>A;ENST00000269195:exon1:c.139+1G>A;ENST00000591081:exon1:c.139+1G>A;ENST00000590654:exon1:c.139+1G>A)	.	.	0.999985532734767	0.936
18	33234766	G	C	18	35654802	y	y	splicing	GALNT1(NM_020474:exon1:c.139+1G>C)	.	.	splicing	ENSG00000141429(ENST00000591924:exon2:c.139+1G>C;ENST00000589189:exon2:c.139+1G>C;ENST00000269195:exon1:c.139+1G>C;ENST00000591081:exon1:c.139+1G>C;ENST00000590654:exon1:c.139+1G>C)	.	.	0.999985532734767	0.936
18	33234766	G	T	18	35654802	y	y	splicing	GALNT1(NM_020474:exon1:c.139+1G>T)	.	.	splicing	ENSG00000141429(ENST00000591924:exon2:c.139+1G>T;ENST00000589189:exon2:c.139+1G>T;ENST00000269195:exon1:c.139+1G>T;ENST00000591081:exon1:c.139+1G>T;ENST00000590654:exon1:c.139+1G>T)	.	.	0.999985532734767	0.936
18	33234767	T	A	18	35654803	y	y	splicing	GALNT1(NM_020474:exon1:c.139+2T>A)	.	.	splicing	ENSG00000141429(ENST00000591924:exon2:c.139+2T>A;ENST00000589189:exon2:c.139+2T>A;ENST00000269195:exon1:c.139+2T>A;ENST00000591081:exon1:c.139+2T>A;ENST00000590654:exon1:c.139+2T>A)	.	.	0.999978952611685	0.928
18	33234767	T	C	18	35654803	y	y	splicing	GALNT1(NM_020474:exon1:c.139+2T>C)	.	.	splicing	ENSG00000141429(ENST00000591924:exon2:c.139+2T>C;ENST00000589189:exon2:c.139+2T>C;ENST00000269195:exon1:c.139+2T>C;ENST00000591081:exon1:c.139+2T>C;ENST00000590654:exon1:c.139+2T>C)	.	.	0.999874152059392	0.858
18	33234767	T	G	18	35654803	y	y	splicing	GALNT1(NM_020474:exon1:c.139+2T>G)	.	.	splicing	ENSG00000141429(ENST00000591924:exon2:c.139+2T>G;ENST00000589189:exon2:c.139+2T>G;ENST00000269195:exon1:c.139+2T>G;ENST00000591081:exon1:c.139+2T>G;ENST00000590654:exon1:c.139+2T>G)	.	.	0.999978952611685	0.926
18	33234768	G	A	18	35654804	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.2414841234027E-5	0.002
18	33234768	G	C	18	35654804	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.793168538203896	0.646
18	33234768	G	T	18	35654804	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.597429884971994	0.55
18	33234769	A	C	18	35654805	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.892830919089287	0.676
18	33234769	A	G	18	35654805	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.99688045736081	0.79
18	33234769	A	T	18	35654805	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.991345604603703	0.814
18	33234770	G	A	18	35654806	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999840285486931	0.938
18	33234770	G	C	18	35654806	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999962011804775	0.952
18	33234770	G	T	18	35654806	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999901602012158	0.922
18	33234771	T	A	18	35654807	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.985764120141389	0.672
18	33234771	T	C	18	35654807	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.724842647122827	0.558
18	33234771	T	G	18	35654807	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.745443478850925	0.568
18	33234772	G	A	18	35654808	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.77945513937545E-4	0.022
18	33234772	G	C	18	35654808	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.63153874326714E-4	0.01
18	33234772	G	T	18	35654808	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.91864077974413E-4	0.02
18	33234773	A	C	18	35654809	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.0094338723489E-5	0.002
18	33234773	A	G	18	35654809	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.31565571583935E-5	0.004
18	33234773	A	T	18	35654809	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.48737295778322E-5	0.002
18	33239810	T	A	18	35659846	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00191884604567912	0.03
18	33239810	T	C	18	35659846	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00191884604567912	0.018
18	33239810	T	G	18	35659846	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00191884604567912	0.018
18	33239811	T	A	18	35659847	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.09562936375766E-4	0.004
18	33239811	T	C	18	35659847	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.3957358345244E-4	0.004
18	33239811	T	G	18	35659847	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.3957358345244E-4	0.004
18	33239812	A	C	18	35659848	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.9920955617261E-4	0.002
18	33239812	A	G	18	35659848	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.9920955617261E-4	0.002
18	33239812	A	T	18	35659848	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.91017441597401E-4	0.006
18	33239813	T	A	18	35659849	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.19523722086209E-5	0.0
18	33239813	T	C	18	35659849	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.19523722086209E-5	0.0
18	33239813	T	G	18	35659849	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.19523722086209E-5	0.0
18	33239814	A	C	18	35659850	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.80274866394675E-5	0.0
18	33239814	A	G	18	35659850	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.80274866394675E-5	0.0
18	33239814	A	T	18	35659850	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.80274866394675E-5	0.0
18	33239815	T	A	18	35659851	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.82827935381688E-5	0.004
18	33239815	T	C	18	35659851	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.82827935381688E-5	0.016
18	33239815	T	G	18	35659851	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.82827935381688E-5	0.014
18	33239816	A	C	18	35659852	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.80274866394675E-5	0.0
18	33239816	A	G	18	35659852	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.80274866394675E-5	0.008
18	33239816	A	T	18	35659852	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.80274866394675E-5	0.0
18	33239817	T	A	18	35659853	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.2886448328189E-5	0.0
18	33239817	T	C	18	35659853	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.39765988491657E-5	0.06
18	33239817	T	G	18	35659853	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.2886448328189E-5	0.01
18	33239818	G	A	18	35659854	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.00675832680685E-4	0.002
18	33239818	G	C	18	35659854	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.32510510707312E-5	0.0
18	33239818	G	T	18	35659854	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.32510510707312E-5	0.0
18	33239819	C	A	18	35659855	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.64191646885158E-5	0.006
18	33239819	C	G	18	35659855	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.64191646885158E-5	0.006
18	33239819	C	T	18	35659855	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.64191646885158E-5	0.006
18	33239820	A	C	18	35659856	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.140-2A>C)	.	.	2.41036740142694E-4	0.002
18	33239820	A	G	18	35659856	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.140-2A>G)	.	.	2.41036740142694E-4	0.002
18	33239820	A	T	18	35659856	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.140-2A>T)	.	.	2.46039206459424E-4	0.0
18	33239821	G	A	18	35659857	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.140-1G>A)	.	.	3.07620641825897E-5	0.002
18	33239821	G	C	18	35659857	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.140-1G>C)	.	.	3.07620641825897E-5	0.002
18	33239821	G	T	18	35659857	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.140-1G>T)	.	.	3.07620641825897E-5	0.002
18	33239822	C	A	18	35659858	n	y	intronic	GALNT1	.	.	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000590654:exon2:c.C140A:p.A47E;	3.21788430707588E-5	0.004
18	33239822	C	G	18	35659858	n	y	intronic	GALNT1	.	.	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000590654:exon2:c.C140G:p.A47G;	3.21788430707588E-5	0.004
18	33239822	C	T	18	35659858	n	y	intronic	GALNT1	.	.	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000590654:exon2:c.C140T:p.A47V;	3.21788430707588E-5	0.004
18	33239823	G	A	18	35659859	n	y	intronic	GALNT1	.	.	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000590654:exon2:c.G141A:p.A47A;	3.07620641825897E-5	0.002
18	33239823	G	C	18	35659859	n	y	intronic	GALNT1	.	.	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000590654:exon2:c.G141C:p.A47A;	3.07620641825897E-5	0.002
18	33239823	G	T	18	35659859	n	y	intronic	GALNT1	.	.	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000590654:exon2:c.G141T:p.A47A;	3.07620641825897E-5	0.002
18	33239892	A	C	18	35659928	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	1.80274866394675E-5	0.0
18	33239892	A	G	18	35659928	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	1.80274866394675E-5	0.0
18	33239892	A	T	18	35659928	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	3.27663100932972E-5	0.0
18	33239893	A	C	18	35659929	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	7.44782069694124E-5	0.002
18	33239893	A	G	18	35659929	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	7.44782069694124E-5	0.002
18	33239893	A	T	18	35659929	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	7.44782069694124E-5	0.002
18	33239894	G	A	18	35659930	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	7.24182447672544E-5	0.022
18	33239894	G	C	18	35659930	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	7.24182447672544E-5	0.022
18	33239894	G	T	18	35659930	n	y	intronic	GALNT1	.	.	UTR5;UTR3	ENSG00000141429;ENSG00000141429	.	.	7.24182447672544E-5	0.026
18	33239895	G	A	18	35659931	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.212+1G>A)	.	.	2.55329374163361E-4	0.04
18	33239895	G	C	18	35659931	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.212+1G>C)	.	.	1.82309039396057E-5	0.022
18	33239895	G	T	18	35659931	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.212+1G>T)	.	.	4.45170072801036E-5	0.01
18	33239896	T	A	18	35659932	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.212+2T>A)	.	.	9.5249215656426E-4	0.004
18	33239896	T	C	18	35659932	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.212+2T>C)	.	.	0.00118989449899221	0.004
18	33239896	T	G	18	35659932	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000590654:exon2:c.212+2T>G)	.	.	9.5249215656426E-4	0.004
18	33239897	A	C	18	35659933	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.02784891650442E-5	0.004
18	33239897	A	G	18	35659933	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.02784891650442E-5	0.004
18	33239897	A	T	18	35659933	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.02784891650442E-5	0.006
18	33239898	T	A	18	35659934	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.95241758590049E-5	0.004
18	33239898	T	C	18	35659934	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.95241758590049E-5	0.004
18	33239898	T	G	18	35659934	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.95241758590049E-5	0.004
18	33239899	A	C	18	35659935	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.09562936375766E-4	0.002
18	33239899	A	G	18	35659935	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.09562936375766E-4	0.002
18	33239899	A	T	18	35659935	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.07383241157634E-4	0.004
18	33239900	G	A	18	35659936	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.72609824252977E-5	0.0
18	33239900	G	C	18	35659936	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.02785913285404E-5	0.002
18	33239900	G	T	18	35659936	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.25211721530026E-4	0.0
18	33239901	A	C	18	35659937	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.07383241157634E-4	0.014
18	33239901	A	G	18	35659937	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.07383241157634E-4	0.022
18	33239901	A	T	18	35659937	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.02147149369138E-4	0.002
18	33239902	T	A	18	35659938	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.16912054493768E-4	0.006
18	33239902	T	C	18	35659938	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.16912054493768E-4	0.006
18	33239902	T	G	18	35659938	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.16912054493768E-4	0.006
18	33243580	T	A	18	35663616	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0250232910133629	0.29
18	33243580	T	C	18	35663616	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.33476362749194E-4	0.012
18	33243580	T	G	18	35663616	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00960066812355286	0.234
18	33243581	C	A	18	35663617	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0147467998946599	0.14
18	33243581	C	G	18	35663617	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00190660760846405	0.048
18	33243581	C	T	18	35663617	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.68261540108812E-5	0.002
18	33243582	C	A	18	35663618	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.108329454383524	0.106
18	33243582	C	G	18	35663618	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00522061642333446	0.16
18	33243582	C	T	18	35663618	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.53258919634879E-4	0.042
18	33243583	T	A	18	35663619	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00614845629338919	0.242
18	33243583	T	C	18	35663619	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.08982268825679E-4	0.008
18	33243583	T	G	18	35663619	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00746273241215753	0.244
18	33243584	A	C	18	35663620	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.27477213328182E-5	0.002
18	33243584	A	G	18	35663620	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.16558280993259E-5	0.01
18	33243584	A	T	18	35663620	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.5056383824666E-5	0.0
18	33243585	T	A	18	35663621	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0359314151672579	0.196
18	33243585	T	C	18	35663621	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.35845962640897E-4	0.02
18	33243585	T	G	18	35663621	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.99992470336656	0.952
18	33243586	T	A	18	35663622	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.238127380534091	0.344
18	33243586	T	C	18	35663622	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00118417729744269	0.08
18	33243586	T	G	18	35663622	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.216870896211288	0.342
18	33243587	C	A	18	35663623	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00109931181772536	0.1
18	33243587	C	G	18	35663623	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00129141763885465	0.108
18	33243587	C	T	18	35663623	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.72582444437194E-5	0.0
18	33243588	T	A	18	35663624	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00761448065951378	0.05
18	33243588	T	C	18	35663624	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00252400223687245	0.028
18	33243588	T	G	18	35663624	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00944477249182483	0.094
18	33243589	T	A	18	35663625	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.135052568913139	0.378
18	33243589	T	C	18	35663625	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.42863109801791E-4	0.01
18	33243589	T	G	18	35663625	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.998367938324358	0.768
18	33243590	A	C	18	35663626	y	y	splicing	GALNT1(NM_020474:exon2:c.140-2A>C)	.	.	splicing	ENSG00000141429(ENST00000591924:exon3:c.140-2A>C;ENST00000589189:exon3:c.140-2A>C;ENST00000269195:exon2:c.140-2A>C;ENST00000591081:exon2:c.140-2A>C;ENST00000590654:exon3:c.213-2A>C)	.	.	0.999966203349492	0.928
18	33243590	A	G	18	35663626	y	y	splicing	GALNT1(NM_020474:exon2:c.140-2A>G)	.	.	splicing	ENSG00000141429(ENST00000591924:exon3:c.140-2A>G;ENST00000589189:exon3:c.140-2A>G;ENST00000269195:exon2:c.140-2A>G;ENST00000591081:exon2:c.140-2A>G;ENST00000590654:exon3:c.213-2A>G)	.	.	0.999966203349492	0.928
18	33243590	A	T	18	35663626	y	y	splicing	GALNT1(NM_020474:exon2:c.140-2A>T)	.	.	splicing	ENSG00000141429(ENST00000591924:exon3:c.140-2A>T;ENST00000589189:exon3:c.140-2A>T;ENST00000269195:exon2:c.140-2A>T;ENST00000591081:exon2:c.140-2A>T;ENST00000590654:exon3:c.213-2A>T)	.	.	0.999966203349492	0.924
18	33243591	G	A	18	35663627	y	y	splicing	GALNT1(NM_020474:exon2:c.140-1G>A)	.	.	splicing	ENSG00000141429(ENST00000591924:exon3:c.140-1G>A;ENST00000589189:exon3:c.140-1G>A;ENST00000269195:exon2:c.140-1G>A;ENST00000591081:exon2:c.140-1G>A;ENST00000590654:exon3:c.213-1G>A)	.	.	0.999986675681007	0.93
18	33243591	G	C	18	35663627	y	y	splicing	GALNT1(NM_020474:exon2:c.140-1G>C)	.	.	splicing	ENSG00000141429(ENST00000591924:exon3:c.140-1G>C;ENST00000589189:exon3:c.140-1G>C;ENST00000269195:exon2:c.140-1G>C;ENST00000591081:exon2:c.140-1G>C;ENST00000590654:exon3:c.213-1G>C)	.	.	0.999986675681007	0.936
18	33243591	G	T	18	35663627	y	y	splicing	GALNT1(NM_020474:exon2:c.140-1G>T)	.	.	splicing	ENSG00000141429(ENST00000591924:exon3:c.140-1G>T;ENST00000589189:exon3:c.140-1G>T;ENST00000269195:exon2:c.140-1G>T;ENST00000591081:exon2:c.140-1G>T;ENST00000590654:exon3:c.213-1G>T)	.	.	0.999986675681007	0.936
18	33243592	T	A	18	35663628	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.T140A:p.V47D;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.T140A:p.V47D;ENSG00000141429:ENST00000591081:exon2:c.T140A:p.V47D;ENSG00000141429:ENST00000591924:exon3:c.T140A:p.V47D;ENSG00000141429:ENST00000269195:exon2:c.T140A:p.V47D;	0.0018383930356426	0.04
18	33243592	T	C	18	35663628	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.T140C:p.V47A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.T140C:p.V47A;ENSG00000141429:ENST00000591081:exon2:c.T140C:p.V47A;ENSG00000141429:ENST00000591924:exon3:c.T140C:p.V47A;ENSG00000141429:ENST00000269195:exon2:c.T140C:p.V47A;	6.99589830091455E-4	0.024
18	33243592	T	G	18	35663628	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.T140G:p.V47G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.T140G:p.V47G;ENSG00000141429:ENST00000591081:exon2:c.T140G:p.V47G;ENSG00000141429:ENST00000591924:exon3:c.T140G:p.V47G;ENSG00000141429:ENST00000269195:exon2:c.T140G:p.V47G;	0.00181394560794039	0.096
18	33243593	T	A	18	35663629	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon2:c.T141A:p.V47V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.T141A:p.V47V;ENSG00000141429:ENST00000591081:exon2:c.T141A:p.V47V;ENSG00000141429:ENST00000591924:exon3:c.T141A:p.V47V;ENSG00000141429:ENST00000269195:exon2:c.T141A:p.V47V;	0.00283385646472887	0.108
18	33243593	T	C	18	35663629	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon2:c.T141C:p.V47V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.T141C:p.V47V;ENSG00000141429:ENST00000591081:exon2:c.T141C:p.V47V;ENSG00000141429:ENST00000591924:exon3:c.T141C:p.V47V;ENSG00000141429:ENST00000269195:exon2:c.T141C:p.V47V;	7.71347561052075E-4	0.014
18	33243593	T	G	18	35663629	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon2:c.T141G:p.V47V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.T141G:p.V47V;ENSG00000141429:ENST00000591081:exon2:c.T141G:p.V47V;ENSG00000141429:ENST00000591924:exon3:c.T141G:p.V47V;ENSG00000141429:ENST00000269195:exon2:c.T141G:p.V47V;	1.57670710612741E-4	0.002
18	33243764	A	C	18	35663800	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.A312C:p.E104D;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.A312C:p.E104D;ENSG00000141429:ENST00000591081:exon2:c.A312C:p.E104D;ENSG00000141429:ENST00000591924:exon3:c.A312C:p.E104D;ENSG00000141429:ENST00000537549:exon3:c.A132C:p.E44D;ENSG00000141429:ENST00000269195:exon2:c.A312C:p.E104D;	6.32078031785572E-5	0.0
18	33243764	A	G	18	35663800	y	n	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon2:c.A312G:p.E104E;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.A312G:p.E104E;ENSG00000141429:ENST00000591081:exon2:c.A312G:p.E104E;ENSG00000141429:ENST00000591924:exon3:c.A312G:p.E104E;ENSG00000141429:ENST00000537549:exon3:c.A132G:p.E44E;ENSG00000141429:ENST00000269195:exon2:c.A312G:p.E104E;	3.10125257494474E-4	0.028
18	33243764	A	T	18	35663800	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.A312T:p.E104D;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.A312T:p.E104D;ENSG00000141429:ENST00000591081:exon2:c.A312T:p.E104D;ENSG00000141429:ENST00000591924:exon3:c.A312T:p.E104D;ENSG00000141429:ENST00000537549:exon3:c.A132T:p.E44D;ENSG00000141429:ENST00000269195:exon2:c.A312T:p.E104D;	0.00124510633726661	0.148
18	33243765	G	A	18	35663801	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.G313A:p.G105R;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.G313A:p.G105R;ENSG00000141429:ENST00000591081:exon2:c.G313A:p.G105R;ENSG00000141429:ENST00000591924:exon3:c.G313A:p.G105R;ENSG00000141429:ENST00000537549:exon3:c.G133A:p.G45R;ENSG00000141429:ENST00000269195:exon2:c.G313A:p.G105R;	0.950859202287077	0.59
18	33243765	G	C	18	35663801	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.G313C:p.G105R;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.G313C:p.G105R;ENSG00000141429:ENST00000591081:exon2:c.G313C:p.G105R;ENSG00000141429:ENST00000591924:exon3:c.G313C:p.G105R;ENSG00000141429:ENST00000537549:exon3:c.G133C:p.G45R;ENSG00000141429:ENST00000269195:exon2:c.G313C:p.G105R;	0.986358203827784	0.772
18	33243765	G	T	18	35663801	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.G313T:p.G105W;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.G313T:p.G105W;ENSG00000141429:ENST00000591081:exon2:c.G313T:p.G105W;ENSG00000141429:ENST00000591924:exon3:c.G313T:p.G105W;ENSG00000141429:ENST00000537549:exon3:c.G133T:p.G45W;ENSG00000141429:ENST00000269195:exon2:c.G313T:p.G105W;	0.991127627229683	0.7
18	33243766	G	A	18	35663802	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.G314A:p.G105E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.G314A:p.G105E;ENSG00000141429:ENST00000591081:exon2:c.G314A:p.G105E;ENSG00000141429:ENST00000591924:exon3:c.G314A:p.G105E;ENSG00000141429:ENST00000537549:exon3:c.G134A:p.G45E;ENSG00000141429:ENST00000269195:exon2:c.G314A:p.G105E;	0.989722960269882	0.802
18	33243766	G	C	18	35663802	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.G314C:p.G105A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.G314C:p.G105A;ENSG00000141429:ENST00000591081:exon2:c.G314C:p.G105A;ENSG00000141429:ENST00000591924:exon3:c.G314C:p.G105A;ENSG00000141429:ENST00000537549:exon3:c.G134C:p.G45A;ENSG00000141429:ENST00000269195:exon2:c.G314C:p.G105A;	0.981398449061506	0.716
18	33243766	G	T	18	35663802	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon2:c.G314T:p.G105V;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon3:c.G314T:p.G105V;ENSG00000141429:ENST00000591081:exon2:c.G314T:p.G105V;ENSG00000141429:ENST00000591924:exon3:c.G314T:p.G105V;ENSG00000141429:ENST00000537549:exon3:c.G134T:p.G45V;ENSG00000141429:ENST00000269195:exon2:c.G314T:p.G105V;	0.99955871802376	0.882
18	33243767	G	A	18	35663803	y	n	splicing	GALNT1(NM_020474:exon2:c.314+1G>A)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000589189:exon3:c.314+1G>A;ENST00000269195:exon2:c.314+1G>A;ENST00000537549:exon3:c.134+1G>A;ENST00000590654:exon3:c.387+1G>A)	synonymous SNV	ENSG00000141429:ENST00000591081:exon2:c.G315A:p.G105G;ENSG00000141429:ENST00000591924:exon3:c.G315A:p.G105G;	0.999981760802075	0.944
18	33243767	G	C	18	35663803	y	n	splicing	GALNT1(NM_020474:exon2:c.314+1G>C)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000589189:exon3:c.314+1G>C;ENST00000269195:exon2:c.314+1G>C;ENST00000537549:exon3:c.134+1G>C;ENST00000590654:exon3:c.387+1G>C)	synonymous SNV	ENSG00000141429:ENST00000591081:exon2:c.G315C:p.G105G;ENSG00000141429:ENST00000591924:exon3:c.G315C:p.G105G;	0.999981760802075	0.944
18	33243767	G	T	18	35663803	y	n	splicing	GALNT1(NM_020474:exon2:c.314+1G>T)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000589189:exon3:c.314+1G>T;ENST00000269195:exon2:c.314+1G>T;ENST00000537549:exon3:c.134+1G>T;ENST00000590654:exon3:c.387+1G>T)	synonymous SNV	ENSG00000141429:ENST00000591081:exon2:c.G315T:p.G105G;ENSG00000141429:ENST00000591924:exon3:c.G315T:p.G105G;	0.999981760802075	0.944
18	33243768	T	A	18	35663804	y	n	splicing	GALNT1(NM_020474:exon2:c.314+2T>A)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000589189:exon3:c.314+2T>A;ENST00000269195:exon2:c.314+2T>A;ENST00000537549:exon3:c.134+2T>A;ENST00000590654:exon3:c.387+2T>A)	stoploss SNV	ENSG00000141429:ENST00000591081:exon2:c.T316A:p.X106K;	0.999989917668626	0.928
18	33243768	T	C	18	35663804	y	n	splicing	GALNT1(NM_020474:exon2:c.314+2T>C)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000589189:exon3:c.314+2T>C;ENST00000269195:exon2:c.314+2T>C;ENST00000537549:exon3:c.134+2T>C;ENST00000590654:exon3:c.387+2T>C)	stoploss SNV	ENSG00000141429:ENST00000591081:exon2:c.T316C:p.X106Q;	0.993179459523591	0.63
18	33243768	T	G	18	35663804	y	n	splicing	GALNT1(NM_020474:exon2:c.314+2T>G)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000589189:exon3:c.314+2T>G;ENST00000269195:exon2:c.314+2T>G;ENST00000537549:exon3:c.134+2T>G;ENST00000590654:exon3:c.387+2T>G)	stoploss SNV	ENSG00000141429:ENST00000591081:exon2:c.T316G:p.X106E;	0.999989917668626	0.928
18	33243769	A	C	18	35663805	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000591081:exon2:c.A317C:p.X106S;	0.993619769670543	0.792
18	33243769	A	G	18	35663805	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000591081:exon2:c.A317G:p.X106X;	0.292751896499025	0.222
18	33243769	A	T	18	35663805	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000591081:exon2:c.A317T:p.X106L;	0.986438365245078	0.772
18	33243770	A	C	18	35663806	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000591081:exon2:c.A318C:p.X106Y;	0.662375987278399	0.474
18	33243770	A	G	18	35663806	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000591081:exon2:c.A318G:p.X106X;	0.790200728774763	0.484
18	33243770	A	T	18	35663806	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000591081:exon2:c.A318T:p.X106Y;	0.458743970185376	0.426
18	33243771	G	A	18	35663807	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.996016233874703	0.93
18	33243771	G	C	18	35663807	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.996132642726766	0.898
18	33243771	G	T	18	35663807	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.994964803181008	0.876
18	33243772	T	A	18	35663808	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.447828451982401	0.418
18	33243772	T	C	18	35663808	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.340756378330538	0.39
18	33243772	T	G	18	35663808	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0911521107846917	0.302
18	33243773	A	C	18	35663809	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.00209602540928427	0.026
18	33243773	A	G	18	35663809	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.00209602540928427	0.022
18	33243773	A	T	18	35663809	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.00206215964332001	0.02
18	33243774	C	A	18	35663810	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	9.72760553213487E-5	0.0
18	33243774	C	G	18	35663810	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	9.72760553213487E-5	0.0
18	33243774	C	T	18	35663810	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	9.72760553213487E-5	0.0
18	33257543	C	A	18	35677579	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.955478137067344	0.656
18	33257543	C	G	18	35677579	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.917338872685292	0.608
18	33257543	C	T	18	35677579	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.949114543337164	0.742
18	33257544	T	A	18	35677580	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999243204041231	0.916
18	33257544	T	C	18	35677580	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.963179966137104	0.6
18	33257544	T	G	18	35677580	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.998616037324977	0.826
18	33257545	T	A	18	35677581	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.941229565989708	0.704
18	33257545	T	C	18	35677581	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00201897331617645	0.058
18	33257545	T	G	18	35677581	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.929572476294195	0.706
18	33257546	T	A	18	35677582	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999967052362707	0.974
18	33257546	T	C	18	35677582	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0187053894178049	0.15
18	33257546	T	G	18	35677582	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.941771851765746	0.84
18	33257547	G	A	18	35677583	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00268185123097455	0.072
18	33257547	G	C	18	35677583	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00354016560436361	0.03
18	33257547	G	T	18	35677583	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00117907369698435	0.018
18	33257548	T	A	18	35677584	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.941153672040718	0.75
18	33257548	T	C	18	35677584	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.73323496903406E-4	0.016
18	33257548	T	G	18	35677584	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.681160257629899	0.492
18	33257549	C	A	18	35677585	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0315997598249292	0.238
18	33257549	C	G	18	35677585	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0196467307633927	0.198
18	33257549	C	T	18	35677585	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.31362307066755E-4	0.02
18	33257550	T	A	18	35677586	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.997390972544866	0.89
18	33257550	T	C	18	35677586	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.449792032461018	0.376
18	33257550	T	G	18	35677586	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.997985340357227	0.908
18	33257551	C	A	18	35677587	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00265102527541828	0.17
18	33257551	C	G	18	35677587	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00829668915866769	0.19
18	33257551	C	T	18	35677587	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0029197122116685	0.094
18	33257552	T	A	18	35677588	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0234713384131465	0.244
18	33257552	T	C	18	35677588	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.41003917101185E-5	0.004
18	33257552	T	G	18	35677588	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.987484169336413	0.624
18	33257553	A	C	18	35677589	y	y	splicing	GALNT1(NM_020474:exon3:c.315-2A>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.315-2A>C;ENST00000269195:exon3:c.315-2A>C;ENST00000537549:exon4:c.135-2A>C;ENST00000590654:exon4:c.388-2A>C)	.	.	0.999988247793601	0.932
18	33257553	A	G	18	35677589	y	y	splicing	GALNT1(NM_020474:exon3:c.315-2A>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.315-2A>G;ENST00000269195:exon3:c.315-2A>G;ENST00000537549:exon4:c.135-2A>G;ENST00000590654:exon4:c.388-2A>G)	.	.	0.999988247793601	0.932
18	33257553	A	T	18	35677589	y	y	splicing	GALNT1(NM_020474:exon3:c.315-2A>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.315-2A>T;ENST00000269195:exon3:c.315-2A>T;ENST00000537549:exon4:c.135-2A>T;ENST00000590654:exon4:c.388-2A>T)	.	.	0.999988247793601	0.932
18	33257554	G	A	18	35677590	y	y	splicing	GALNT1(NM_020474:exon3:c.315-1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.315-1G>A;ENST00000269195:exon3:c.315-1G>A;ENST00000537549:exon4:c.135-1G>A;ENST00000590654:exon4:c.388-1G>A)	.	.	0.999989072007339	0.934
18	33257554	G	C	18	35677590	y	y	splicing	GALNT1(NM_020474:exon3:c.315-1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.315-1G>C;ENST00000269195:exon3:c.315-1G>C;ENST00000537549:exon4:c.135-1G>C;ENST00000590654:exon4:c.388-1G>C)	.	.	0.999989072007339	0.934
18	33257554	G	T	18	35677590	y	y	splicing	GALNT1(NM_020474:exon3:c.315-1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.315-1G>T;ENST00000269195:exon3:c.315-1G>T;ENST00000537549:exon4:c.135-1G>T;ENST00000590654:exon4:c.388-1G>T)	.	.	0.999989072007339	0.934
18	33257555	G	A	18	35677591	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon3:c.G315A:p.G105G;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G315A:p.G105G;ENSG00000141429:ENST00000537549:exon4:c.G135A:p.G45G;ENSG00000141429:ENST00000269195:exon3:c.G315A:p.G105G;	0.971603895179516	0.65
18	33257555	G	C	18	35677591	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon3:c.G315C:p.G105G;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G315C:p.G105G;ENSG00000141429:ENST00000537549:exon4:c.G135C:p.G45G;ENSG00000141429:ENST00000269195:exon3:c.G315C:p.G105G;	0.995181237376598	0.878
18	33257555	G	T	18	35677591	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon3:c.G315T:p.G105G;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G315T:p.G105G;ENSG00000141429:ENST00000537549:exon4:c.G135T:p.G45G;ENSG00000141429:ENST00000269195:exon3:c.G315T:p.G105G;	0.998015609027757	0.934
18	33257556	T	A	18	35677592	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.T316A:p.C106S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.T316A:p.C106S;ENSG00000141429:ENST00000537549:exon4:c.T136A:p.C46S;ENSG00000141429:ENST00000269195:exon3:c.T316A:p.C106S;	0.742924088245514	0.536
18	33257556	T	C	18	35677592	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.T316C:p.C106R;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.T316C:p.C106R;ENSG00000141429:ENST00000537549:exon4:c.T136C:p.C46R;ENSG00000141429:ENST00000269195:exon3:c.T316C:p.C106R;	0.417182990651569	0.54
18	33257556	T	G	18	35677592	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.T316G:p.C106G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.T316G:p.C106G;ENSG00000141429:ENST00000537549:exon4:c.T136G:p.C46G;ENSG00000141429:ENST00000269195:exon3:c.T316G:p.C106G;	0.726046646742357	0.54
18	33257719	G	A	18	35677755	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.G479A:p.R160K;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G479A:p.R160K;ENSG00000141429:ENST00000537549:exon4:c.G299A:p.R100K;ENSG00000141429:ENST00000269195:exon3:c.G479A:p.R160K;	0.945109846958642	0.774
18	33257719	G	C	18	35677755	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.G479C:p.R160T;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G479C:p.R160T;ENSG00000141429:ENST00000537549:exon4:c.G299C:p.R100T;ENSG00000141429:ENST00000269195:exon3:c.G479C:p.R160T;	0.932611178542827	0.782
18	33257719	G	T	18	35677755	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.G479T:p.R160I;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G479T:p.R160I;ENSG00000141429:ENST00000537549:exon4:c.G299T:p.R100I;ENSG00000141429:ENST00000269195:exon3:c.G479T:p.R160I;	0.991093298888636	0.764
18	33257720	A	C	18	35677756	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.A480C:p.R160S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.A480C:p.R160S;ENSG00000141429:ENST00000537549:exon4:c.A300C:p.R100S;ENSG00000141429:ENST00000269195:exon3:c.A480C:p.R160S;	0.992977328218183	0.852
18	33257720	A	G	18	35677756	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon3:c.A480G:p.R160R;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.A480G:p.R160R;ENSG00000141429:ENST00000537549:exon4:c.A300G:p.R100R;ENSG00000141429:ENST00000269195:exon3:c.A480G:p.R160R;	0.999427554214795	0.94
18	33257720	A	T	18	35677756	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.A480T:p.R160S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.A480T:p.R160S;ENSG00000141429:ENST00000537549:exon4:c.A300T:p.R100S;ENSG00000141429:ENST00000269195:exon3:c.A480T:p.R160S;	0.999802665343705	0.998
18	33257721	G	A	18	35677757	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.G481A:p.D161N;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G481A:p.D161N;ENSG00000141429:ENST00000537549:exon4:c.G301A:p.D101N;ENSG00000141429:ENST00000269195:exon3:c.G481A:p.D161N;	0.999976384498587	1.0
18	33257721	G	C	18	35677757	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.G481C:p.D161H;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G481C:p.D161H;ENSG00000141429:ENST00000537549:exon4:c.G301C:p.D101H;ENSG00000141429:ENST00000269195:exon3:c.G481C:p.D161H;	0.999998312535482	1.0
18	33257721	G	T	18	35677757	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon3:c.G481T:p.D161Y;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon4:c.G481T:p.D161Y;ENSG00000141429:ENST00000537549:exon4:c.G301T:p.D101Y;ENSG00000141429:ENST00000269195:exon3:c.G481T:p.D161Y;	0.999986908974587	0.998
18	33257722	G	A	18	35677758	y	y	splicing	GALNT1(NM_020474:exon3:c.481+1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.481+1G>A;ENST00000269195:exon3:c.481+1G>A;ENST00000537549:exon4:c.301+1G>A;ENST00000590654:exon4:c.554+1G>A)	.	.	0.999986675681007	0.932
18	33257722	G	C	18	35677758	y	y	splicing	GALNT1(NM_020474:exon3:c.481+1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.481+1G>C;ENST00000269195:exon3:c.481+1G>C;ENST00000537549:exon4:c.301+1G>C;ENST00000590654:exon4:c.554+1G>C)	.	.	0.999986675681007	0.932
18	33257722	G	T	18	35677758	y	y	splicing	GALNT1(NM_020474:exon3:c.481+1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.481+1G>T;ENST00000269195:exon3:c.481+1G>T;ENST00000537549:exon4:c.301+1G>T;ENST00000590654:exon4:c.554+1G>T)	.	.	0.999986675681007	0.932
18	33257723	T	A	18	35677759	y	y	splicing	GALNT1(NM_020474:exon3:c.481+2T>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.481+2T>A;ENST00000269195:exon3:c.481+2T>A;ENST00000537549:exon4:c.301+2T>A;ENST00000590654:exon4:c.554+2T>A)	.	.	0.999988247793601	0.928
18	33257723	T	C	18	35677759	y	y	splicing	GALNT1(NM_020474:exon3:c.481+2T>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.481+2T>C;ENST00000269195:exon3:c.481+2T>C;ENST00000537549:exon4:c.301+2T>C;ENST00000590654:exon4:c.554+2T>C)	.	.	0.99416530160294	0.66
18	33257723	T	G	18	35677759	y	y	splicing	GALNT1(NM_020474:exon3:c.481+2T>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon4:c.481+2T>G;ENST00000269195:exon3:c.481+2T>G;ENST00000537549:exon4:c.301+2T>G;ENST00000590654:exon4:c.554+2T>G)	.	.	0.999988247793601	0.928
18	33257724	A	C	18	35677760	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999966531638642	0.976
18	33257724	A	G	18	35677760	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999104791670658	0.922
18	33257724	A	T	18	35677760	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999779199887102	0.954
18	33257725	A	C	18	35677761	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.100713564045179	0.238
18	33257725	A	G	18	35677761	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.738827040135766	0.348
18	33257725	A	T	18	35677761	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.463754960085649	0.326
18	33257726	A	C	18	35677762	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.15029435628517E-4	0.044
18	33257726	A	G	18	35677762	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.73871129745943E-4	0.046
18	33257726	A	T	18	35677762	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.37895205033642E-4	0.028
18	33257727	T	A	18	35677763	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.254273197381664	0.312
18	33257727	T	C	18	35677763	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.413268151901787	0.334
18	33257727	T	G	18	35677763	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.176225378781485	0.268
18	33257728	T	A	18	35677764	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00139500897254195	0.084
18	33257728	T	C	18	35677764	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00113318170969598	0.026
18	33257728	T	G	18	35677764	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00112635743604637	0.03
18	33257729	T	A	18	35677765	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.80052847216479E-4	0.0
18	33257729	T	C	18	35677765	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.09603457098334E-4	0.0
18	33257729	T	G	18	35677765	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.60055886815195E-4	0.002
18	33263343	T	A	18	35683379	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.792039428277466	0.628
18	33263343	T	C	18	35683379	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.76793363092551E-4	0.022
18	33263343	T	G	18	35683379	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.630090221672233	0.614
18	33263344	T	A	18	35683380	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.886584975181002	0.706
18	33263344	T	C	18	35683380	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0165803429902997	0.13
18	33263344	T	G	18	35683380	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.361977411707178	0.494
18	33263345	C	A	18	35683381	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.73613881036795E-4	0.09
18	33263345	C	G	18	35683381	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.6115802889383E-4	0.04
18	33263345	C	T	18	35683381	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.31685972065949E-5	0.0
18	33263346	A	C	18	35683382	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.55192413633958E-5	0.014
18	33263346	A	G	18	35683382	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.53146313075456E-5	0.02
18	33263346	A	T	18	35683382	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.60571479541217E-5	0.01
18	33263347	T	A	18	35683383	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0670721592688272	0.248
18	33263347	T	C	18	35683383	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.73508913236676E-4	0.034
18	33263347	T	G	18	35683383	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.99975774142233	0.978
18	33263348	T	A	18	35683384	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0329253099461024	0.2
18	33263348	T	C	18	35683384	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.2566615428325E-5	0.018
18	33263348	T	G	18	35683384	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0188079131513069	0.156
18	33263349	T	A	18	35683385	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.865497330703021	0.522
18	33263349	T	C	18	35683385	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00237581466120057	0.058
18	33263349	T	G	18	35683385	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.948696025495179	0.614
18	33263350	T	A	18	35683386	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.492822676356752	0.464
18	33263350	T	C	18	35683386	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0027937566259544	0.032
18	33263350	T	G	18	35683386	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.959795278520355	0.536
18	33263351	C	A	18	35683387	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.28003903217262E-5	0.004
18	33263351	C	G	18	35683387	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.12435740482261E-5	0.004
18	33263351	C	T	18	35683387	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.22829253583266E-5	0.004
18	33263352	C	A	18	35683388	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.971526706161942	0.662
18	33263352	C	G	18	35683388	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.984950067129861	0.888
18	33263352	C	T	18	35683388	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00358136366386434	0.048
18	33263353	A	C	18	35683389	y	y	splicing	GALNT1(NM_020474:exon4:c.482-2A>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.482-2A>C;ENST00000269195:exon4:c.482-2A>C;ENST00000537549:exon5:c.302-2A>C;ENST00000590654:exon5:c.555-2A>C)	.	.	0.999988247793601	0.932
18	33263353	A	G	18	35683389	y	y	splicing	GALNT1(NM_020474:exon4:c.482-2A>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.482-2A>G;ENST00000269195:exon4:c.482-2A>G;ENST00000537549:exon5:c.302-2A>G;ENST00000590654:exon5:c.555-2A>G)	.	.	0.999988247793601	0.932
18	33263353	A	T	18	35683389	y	y	splicing	GALNT1(NM_020474:exon4:c.482-2A>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.482-2A>T;ENST00000269195:exon4:c.482-2A>T;ENST00000537549:exon5:c.302-2A>T;ENST00000590654:exon5:c.555-2A>T)	.	.	0.999988247793601	0.932
18	33263354	G	A	18	35683390	y	y	splicing	GALNT1(NM_020474:exon4:c.482-1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.482-1G>A;ENST00000269195:exon4:c.482-1G>A;ENST00000537549:exon5:c.302-1G>A;ENST00000590654:exon5:c.555-1G>A)	.	.	0.999990361384395	0.938
18	33263354	G	C	18	35683390	y	y	splicing	GALNT1(NM_020474:exon4:c.482-1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.482-1G>C;ENST00000269195:exon4:c.482-1G>C;ENST00000537549:exon5:c.302-1G>C;ENST00000590654:exon5:c.555-1G>C)	.	.	0.999990361384395	0.938
18	33263354	G	T	18	35683390	y	y	splicing	GALNT1(NM_020474:exon4:c.482-1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.482-1G>T;ENST00000269195:exon4:c.482-1G>T;ENST00000537549:exon5:c.302-1G>T;ENST00000590654:exon5:c.555-1G>T)	.	.	0.999990361384395	0.938
18	33263355	A	C	18	35683391	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.A482C:p.D161A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.A482C:p.D161A;ENSG00000141429:ENST00000537549:exon5:c.A302C:p.D101A;ENSG00000141429:ENST00000269195:exon4:c.A482C:p.D161A;	0.578592353334074	0.614
18	33263355	A	G	18	35683391	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.A482G:p.D161G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.A482G:p.D161G;ENSG00000141429:ENST00000537549:exon5:c.A302G:p.D101G;ENSG00000141429:ENST00000269195:exon4:c.A482G:p.D161G;	0.735140607834191	0.638
18	33263355	A	T	18	35683391	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.A482T:p.D161V;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.A482T:p.D161V;ENSG00000141429:ENST00000537549:exon5:c.A302T:p.D101V;ENSG00000141429:ENST00000269195:exon4:c.A482T:p.D161V;	0.752713761063104	0.564
18	33263356	C	A	18	35683392	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.C483A:p.D161E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.C483A:p.D161E;ENSG00000141429:ENST00000537549:exon5:c.C303A:p.D101E;ENSG00000141429:ENST00000269195:exon4:c.C483A:p.D161E;	1.27839134960484E-4	0.004
18	33263356	C	G	18	35683392	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.C483G:p.D161E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.C483G:p.D161E;ENSG00000141429:ENST00000537549:exon5:c.C303G:p.D101E;ENSG00000141429:ENST00000269195:exon4:c.C483G:p.D161E;	2.18478516946451E-4	0.046
18	33263356	C	T	18	35683392	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon4:c.C483T:p.D161D;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.C483T:p.D161D;ENSG00000141429:ENST00000537549:exon5:c.C303T:p.D101D;ENSG00000141429:ENST00000269195:exon4:c.C483T:p.D161D;	3.94284909509381E-4	0.004
18	33263560	C	A	18	35683596	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.C687A:p.D229E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.C687A:p.D229E;ENSG00000141429:ENST00000537549:exon5:c.C507A:p.D169E;ENSG00000141429:ENST00000269195:exon4:c.C687A:p.D229E;	0.766992750873424	0.794
18	33263560	C	G	18	35683596	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.C687G:p.D229E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.C687G:p.D229E;ENSG00000141429:ENST00000537549:exon5:c.C507G:p.D169E;ENSG00000141429:ENST00000269195:exon4:c.C687G:p.D229E;	0.578232620852129	0.594
18	33263560	C	T	18	35683596	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon4:c.C687T:p.D229D;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.C687T:p.D229D;ENSG00000141429:ENST00000537549:exon5:c.C507T:p.D169D;ENSG00000141429:ENST00000269195:exon4:c.C687T:p.D229D;	0.993484812400413	0.824
18	33263561	A	C	18	35683597	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon4:c.A688C:p.R230R;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.A688C:p.R230R;ENSG00000141429:ENST00000537549:exon5:c.A508C:p.R170R;ENSG00000141429:ENST00000269195:exon4:c.A688C:p.R230R;	0.996426633876012	0.956
18	33263561	A	G	18	35683597	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.A688G:p.R230G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.A688G:p.R230G;ENSG00000141429:ENST00000537549:exon5:c.A508G:p.R170G;ENSG00000141429:ENST00000269195:exon4:c.A688G:p.R230G;	0.999774948627634	0.986
18	33263561	A	T	18	35683597	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.A688T:p.R230W;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.A688T:p.R230W;ENSG00000141429:ENST00000537549:exon5:c.A508T:p.R170W;ENSG00000141429:ENST00000269195:exon4:c.A688T:p.R230W;	0.999862646473045	0.98
18	33263562	G	A	18	35683598	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.G689A:p.R230K;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.G689A:p.R230K;ENSG00000141429:ENST00000537549:exon5:c.G509A:p.R170K;ENSG00000141429:ENST00000269195:exon4:c.G689A:p.R230K;	0.999955036987123	1.0
18	33263562	G	C	18	35683598	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.G689C:p.R230T;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.G689C:p.R230T;ENSG00000141429:ENST00000537549:exon5:c.G509C:p.R170T;ENSG00000141429:ENST00000269195:exon4:c.G689C:p.R230T;	0.999995095699202	1.0
18	33263562	G	T	18	35683598	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon4:c.G689T:p.R230M;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon5:c.G689T:p.R230M;ENSG00000141429:ENST00000537549:exon5:c.G509T:p.R170M;ENSG00000141429:ENST00000269195:exon4:c.G689T:p.R230M;	0.999977144067382	0.996
18	33263563	G	A	18	35683599	y	y	splicing	GALNT1(NM_020474:exon4:c.689+1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.689+1G>A;ENST00000269195:exon4:c.689+1G>A;ENST00000537549:exon5:c.509+1G>A;ENST00000590654:exon5:c.762+1G>A)	.	.	0.999986675681007	0.936
18	33263563	G	C	18	35683599	y	y	splicing	GALNT1(NM_020474:exon4:c.689+1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.689+1G>C;ENST00000269195:exon4:c.689+1G>C;ENST00000537549:exon5:c.509+1G>C;ENST00000590654:exon5:c.762+1G>C)	.	.	0.999986675681007	0.936
18	33263563	G	T	18	35683599	y	y	splicing	GALNT1(NM_020474:exon4:c.689+1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.689+1G>T;ENST00000269195:exon4:c.689+1G>T;ENST00000537549:exon5:c.509+1G>T;ENST00000590654:exon5:c.762+1G>T)	.	.	0.999986675681007	0.936
18	33263564	T	A	18	35683600	y	y	splicing	GALNT1(NM_020474:exon4:c.689+2T>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.689+2T>A;ENST00000269195:exon4:c.689+2T>A;ENST00000537549:exon5:c.509+2T>A;ENST00000590654:exon5:c.762+2T>A)	.	.	0.999990155693597	0.928
18	33263564	T	C	18	35683600	y	y	splicing	GALNT1(NM_020474:exon4:c.689+2T>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.689+2T>C;ENST00000269195:exon4:c.689+2T>C;ENST00000537549:exon5:c.509+2T>C;ENST00000590654:exon5:c.762+2T>C)	.	.	0.991154604827462	0.618
18	33263564	T	G	18	35683600	y	y	splicing	GALNT1(NM_020474:exon4:c.689+2T>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon5:c.689+2T>G;ENST00000269195:exon4:c.689+2T>G;ENST00000537549:exon5:c.509+2T>G;ENST00000590654:exon5:c.762+2T>G)	.	.	0.999990155693597	0.928
18	33263565	A	C	18	35683601	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999812234709433	0.952
18	33263565	A	G	18	35683601	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.997525413958294	0.85
18	33263565	A	T	18	35683601	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999637622751662	0.98
18	33263566	A	C	18	35683602	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.118426079001614	0.282
18	33263566	A	G	18	35683602	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.438947672763244	0.394
18	33263566	A	T	18	35683602	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.66905739987947	0.418
18	33263567	T	A	18	35683603	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00103526466218718	0.022
18	33263567	T	C	18	35683603	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.64364242322222E-4	0.026
18	33263567	T	G	18	35683603	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.61655185521429E-4	0.026
18	33263568	T	A	18	35683604	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00811568871319425	0.238
18	33263568	T	C	18	35683604	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.273919056820196	0.354
18	33263568	T	G	18	35683604	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.35570875023542E-4	0.278
18	33263569	T	A	18	35683605	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00290338693491101	0.034
18	33263569	T	C	18	35683605	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0024388747280327	0.03
18	33263569	T	G	18	35683605	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0024388747280327	0.03
18	33263570	T	A	18	35683606	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.01218347215081E-4	0.008
18	33263570	T	C	18	35683606	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.56376730556305E-4	0.004
18	33263570	T	G	18	35683606	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.60308701244506E-4	0.002
18	33266968	T	A	18	35687004	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.590392445839224	0.536
18	33266968	T	C	18	35687004	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0118624223062202	0.152
18	33266968	T	G	18	35687004	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.386074581526227	0.512
18	33266969	T	A	18	35687005	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.797779207330437	0.426
18	33266969	T	C	18	35687005	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0046584482070895	0.104
18	33266969	T	G	18	35687005	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.261717372094525	0.34
18	33266970	A	C	18	35687006	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.1209596210458E-5	0.0
18	33266970	A	G	18	35687006	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.66736970862975E-5	0.002
18	33266970	A	T	18	35687006	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.1209596210458E-5	0.0
18	33266971	T	A	18	35687007	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999874146766185	0.978
18	33266971	T	C	18	35687007	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00486294978701719	0.058
18	33266971	T	G	18	35687007	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999887656440407	0.978
18	33266972	G	A	18	35687008	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.79791611266925E-4	0.074
18	33266972	G	C	18	35687008	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.07204441907535E-4	0.036
18	33266972	G	T	18	35687008	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.9301754427923E-4	0.008
18	33266973	A	C	18	35687009	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00121718150515116	0.062
18	33266973	A	G	18	35687009	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00449254820062583	0.068
18	33266973	A	T	18	35687009	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00121718150515116	0.056
18	33266974	C	A	18	35687010	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.81573490119579E-4	0.17
18	33266974	C	G	18	35687010	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.994099774404759	0.85
18	33266974	C	T	18	35687010	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.81013911909816E-5	0.0
18	33266975	A	C	18	35687011	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.12045736040035E-5	0.002
18	33266975	A	G	18	35687011	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.15402537463912E-5	0.056
18	33266975	A	T	18	35687011	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.12045736040035E-5	0.0
18	33266976	T	A	18	35687012	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.00648434179687E-5	0.01
18	33266976	T	C	18	35687012	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.90082880446175E-4	0.054
18	33266976	T	G	18	35687012	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.967444299197007	0.696
18	33266977	C	A	18	35687013	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.834449487394193	0.548
18	33266977	C	G	18	35687013	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.991953428385852	0.73
18	33266977	C	T	18	35687013	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.12155849958086E-4	0.054
18	33266978	A	C	18	35687014	y	y	splicing	GALNT1(NM_020474:exon5:c.690-2A>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.690-2A>C;ENST00000269195:exon5:c.690-2A>C;ENST00000537549:exon6:c.510-2A>C;ENST00000590654:exon6:c.763-2A>C)	.	.	0.999922897140544	0.798
18	33266978	A	G	18	35687014	y	y	splicing	GALNT1(NM_020474:exon5:c.690-2A>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.690-2A>G;ENST00000269195:exon5:c.690-2A>G;ENST00000537549:exon6:c.510-2A>G;ENST00000590654:exon6:c.763-2A>G)	.	.	0.999922897140544	0.798
18	33266978	A	T	18	35687014	y	y	splicing	GALNT1(NM_020474:exon5:c.690-2A>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.690-2A>T;ENST00000269195:exon5:c.690-2A>T;ENST00000537549:exon6:c.510-2A>T;ENST00000590654:exon6:c.763-2A>T)	.	.	0.999855358188354	0.812
18	33266979	G	A	18	35687015	y	y	splicing	GALNT1(NM_020474:exon5:c.690-1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.690-1G>A;ENST00000269195:exon5:c.690-1G>A;ENST00000537549:exon6:c.510-1G>A;ENST00000590654:exon6:c.763-1G>A)	.	.	0.99993928974862	0.946
18	33266979	G	C	18	35687015	y	y	splicing	GALNT1(NM_020474:exon5:c.690-1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.690-1G>C;ENST00000269195:exon5:c.690-1G>C;ENST00000537549:exon6:c.510-1G>C;ENST00000590654:exon6:c.763-1G>C)	.	.	0.999960395825381	0.944
18	33266979	G	T	18	35687015	y	y	splicing	GALNT1(NM_020474:exon5:c.690-1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.690-1G>T;ENST00000269195:exon5:c.690-1G>T;ENST00000537549:exon6:c.510-1G>T;ENST00000590654:exon6:c.763-1G>T)	.	.	0.999960395825381	0.944
18	33266980	G	A	18	35687016	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon5:c.G690A:p.R230R;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.G690A:p.R230R;ENSG00000141429:ENST00000537549:exon6:c.G510A:p.R170R;ENSG00000141429:ENST00000269195:exon5:c.G690A:p.R230R;	0.725507965485474	0.602
18	33266980	G	C	18	35687016	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon5:c.G690C:p.R230S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.G690C:p.R230S;ENSG00000141429:ENST00000537549:exon6:c.G510C:p.R170S;ENSG00000141429:ENST00000269195:exon5:c.G690C:p.R230S;	0.999907546391054	0.96
18	33266980	G	T	18	35687016	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon5:c.G690T:p.R230S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.G690T:p.R230S;ENSG00000141429:ENST00000537549:exon6:c.G510T:p.R170S;ENSG00000141429:ENST00000269195:exon5:c.G690T:p.R230S;	0.999960876786715	0.98
18	33266981	A	C	18	35687017	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon5:c.A691C:p.R231R;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.A691C:p.R231R;ENSG00000141429:ENST00000537549:exon6:c.A511C:p.R171R;ENSG00000141429:ENST00000269195:exon5:c.A691C:p.R231R;	8.20742430369496E-4	0.018
18	33266981	A	G	18	35687017	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon5:c.A691G:p.R231G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.A691G:p.R231G;ENSG00000141429:ENST00000537549:exon6:c.A511G:p.R171G;ENSG00000141429:ENST00000269195:exon5:c.A691G:p.R231G;	0.00183873350880775	0.016
18	33266981	A	T	18	35687017	y	y	exonic	GALNT1	stopgain SNV	GALNT1:NM_020474:exon5:c.A691T:p.R231X;	exonic	ENSG00000141429	stopgain SNV	ENSG00000141429:ENST00000589189:exon6:c.A691T:p.R231X;ENSG00000141429:ENST00000537549:exon6:c.A511T:p.R171X;ENSG00000141429:ENST00000269195:exon5:c.A691T:p.R231X;	0.169634819517912	0.486
18	33267148	C	A	18	35687184	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon5:c.C858A:p.V286V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.C858A:p.V286V;ENSG00000141429:ENST00000537549:exon6:c.C678A:p.V226V;ENSG00000141429:ENST00000269195:exon5:c.C858A:p.V286V;	2.52634875470129E-4	0.02
18	33267148	C	G	18	35687184	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon5:c.C858G:p.V286V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.C858G:p.V286V;ENSG00000141429:ENST00000537549:exon6:c.C678G:p.V226V;ENSG00000141429:ENST00000269195:exon5:c.C858G:p.V286V;	3.50514678303284E-4	0.024
18	33267148	C	T	18	35687184	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon5:c.C858T:p.V286V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.C858T:p.V286V;ENSG00000141429:ENST00000537549:exon6:c.C678T:p.V226V;ENSG00000141429:ENST00000269195:exon5:c.C858T:p.V286V;	0.00470208282279706	0.32
18	33267149	A	C	18	35687185	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon5:c.A859C:p.R287R;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.A859C:p.R287R;ENSG00000141429:ENST00000537549:exon6:c.A679C:p.R227R;ENSG00000141429:ENST00000269195:exon5:c.A859C:p.R287R;	0.996415034504806	0.96
18	33267149	A	G	18	35687185	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon5:c.A859G:p.R287G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.A859G:p.R287G;ENSG00000141429:ENST00000537549:exon6:c.A679G:p.R227G;ENSG00000141429:ENST00000269195:exon5:c.A859G:p.R287G;	0.999443850777742	0.954
18	33267149	A	T	18	35687185	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon5:c.A859T:p.R287W;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.A859T:p.R287W;ENSG00000141429:ENST00000537549:exon6:c.A679T:p.R227W;ENSG00000141429:ENST00000269195:exon5:c.A859T:p.R287W;	0.999846633768182	0.982
18	33267150	G	A	18	35687186	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon5:c.G860A:p.R287K;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.G860A:p.R287K;ENSG00000141429:ENST00000537549:exon6:c.G680A:p.R227K;ENSG00000141429:ENST00000269195:exon5:c.G860A:p.R287K;	0.99998801562052	0.998
18	33267150	G	C	18	35687186	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon5:c.G860C:p.R287T;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.G860C:p.R287T;ENSG00000141429:ENST00000537549:exon6:c.G680C:p.R227T;ENSG00000141429:ENST00000269195:exon5:c.G860C:p.R287T;	0.999997465036175	1.0
18	33267150	G	T	18	35687186	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon5:c.G860T:p.R287M;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon6:c.G860T:p.R287M;ENSG00000141429:ENST00000537549:exon6:c.G680T:p.R227M;ENSG00000141429:ENST00000269195:exon5:c.G860T:p.R287M;	0.999977144067382	0.988
18	33267151	G	A	18	35687187	y	y	splicing	GALNT1(NM_020474:exon5:c.860+1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.860+1G>A;ENST00000269195:exon5:c.860+1G>A;ENST00000537549:exon6:c.680+1G>A;ENST00000590654:exon6:c.933+1G>A)	.	.	0.999986675681007	0.932
18	33267151	G	C	18	35687187	y	y	splicing	GALNT1(NM_020474:exon5:c.860+1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.860+1G>C;ENST00000269195:exon5:c.860+1G>C;ENST00000537549:exon6:c.680+1G>C;ENST00000590654:exon6:c.933+1G>C)	.	.	0.999986675681007	0.932
18	33267151	G	T	18	35687187	y	y	splicing	GALNT1(NM_020474:exon5:c.860+1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.860+1G>T;ENST00000269195:exon5:c.860+1G>T;ENST00000537549:exon6:c.680+1G>T;ENST00000590654:exon6:c.933+1G>T)	.	.	0.999986675681007	0.932
18	33267152	T	A	18	35687188	y	y	splicing	GALNT1(NM_020474:exon5:c.860+2T>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.860+2T>A;ENST00000269195:exon5:c.860+2T>A;ENST00000537549:exon6:c.680+2T>A;ENST00000590654:exon6:c.933+2T>A)	.	.	0.999988247793601	0.928
18	33267152	T	C	18	35687188	y	y	splicing	GALNT1(NM_020474:exon5:c.860+2T>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.860+2T>C;ENST00000269195:exon5:c.860+2T>C;ENST00000537549:exon6:c.680+2T>C;ENST00000590654:exon6:c.933+2T>C)	.	.	0.994669226766359	0.656
18	33267152	T	G	18	35687188	y	y	splicing	GALNT1(NM_020474:exon5:c.860+2T>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon6:c.860+2T>G;ENST00000269195:exon5:c.860+2T>G;ENST00000537549:exon6:c.680+2T>G;ENST00000590654:exon6:c.933+2T>G)	.	.	0.999988247793601	0.928
18	33267153	A	C	18	35687189	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999725144009444	0.952
18	33267153	A	G	18	35687189	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.996634128586218	0.796
18	33267153	A	T	18	35687189	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999808233618225	0.954
18	33267154	A	C	18	35687190	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.520828078381712	0.432
18	33267154	A	G	18	35687190	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.551200529143373	0.564
18	33267154	A	T	18	35687190	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.142172812708921	0.356
18	33267155	T	A	18	35687191	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.01088060368062E-5	0.002
18	33267155	T	C	18	35687191	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.57455491046874E-5	0.0
18	33267155	T	G	18	35687191	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.00382869022987E-5	0.0
18	33267156	T	A	18	35687192	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00359744518079983	0.166
18	33267156	T	C	18	35687192	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0465070991139869	0.216
18	33267156	T	G	18	35687192	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.47743867498761E-4	0.144
18	33267157	A	C	18	35687193	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.64513006006548E-5	0.0
18	33267157	A	G	18	35687193	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.54871169359151E-4	0.002
18	33267157	A	T	18	35687193	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.32015530289597E-4	0.014
18	33267158	A	C	18	35687194	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.47348756796826E-5	0.0
18	33267158	A	G	18	35687194	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.14668474105321E-5	0.0
18	33267158	A	T	18	35687194	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.58992702814738E-5	0.0
18	33269125	A	C	18	35689161	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00106808952536031	0.018
18	33269125	A	G	18	35689161	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0103937266045798	0.036
18	33269125	A	T	18	35689161	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00252462767839257	0.042
18	33269126	T	A	18	35689162	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.997122312360844	0.922
18	33269126	T	C	18	35689162	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.675816549953875	0.602
18	33269126	T	G	18	35689162	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999952590502812	0.98
18	33269127	T	A	18	35689163	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999953899455795	0.98
18	33269127	T	C	18	35689163	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00206890192185174	0.072
18	33269127	T	G	18	35689163	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.991250375839392	0.864
18	33269128	G	A	18	35689164	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0103213806953854	0.118
18	33269128	G	C	18	35689164	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00147607517667652	0.022
18	33269128	G	T	18	35689164	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.71522075757751E-4	0.03
18	33269129	A	C	18	35689165	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.80730948382228E-5	0.0
18	33269129	A	G	18	35689165	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.02578421496553E-4	0.064
18	33269129	A	T	18	35689165	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.7485469169334E-4	0.002
18	33269130	A	C	18	35689166	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.74640379793217E-4	0.002
18	33269130	A	G	18	35689166	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999504851715918	0.944
18	33269130	A	T	18	35689166	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.74640379793217E-4	0.008
18	33269131	T	A	18	35689167	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.996462906213955	0.926
18	33269131	T	C	18	35689167	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00322079280255202	0.116
18	33269131	T	G	18	35689167	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999934058607801	0.972
18	33269132	T	A	18	35689168	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.997838929411993	0.894
18	33269132	T	C	18	35689168	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.865384475592663	0.378
18	33269132	T	G	18	35689168	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.998686286538808	0.878
18	33269133	T	A	18	35689169	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.013233969480925	0.092
18	33269133	T	C	18	35689169	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.41239034123506E-4	0.048
18	33269133	T	G	18	35689169	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00564804814332912	0.056
18	33269134	C	A	18	35689170	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999755578106665	0.954
18	33269134	C	G	18	35689170	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999951954698961	0.924
18	33269134	C	T	18	35689170	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.262993982895939	0.24
18	33269135	A	C	18	35689171	y	y	splicing	GALNT1(NM_020474:exon6:c.861-2A>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.861-2A>C;ENST00000269195:exon6:c.861-2A>C;ENST00000537549:exon7:c.681-2A>C;ENST00000590654:exon7:c.934-2A>C)	.	.	0.999990764389106	0.94
18	33269135	A	G	18	35689171	y	y	splicing	GALNT1(NM_020474:exon6:c.861-2A>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.861-2A>G;ENST00000269195:exon6:c.861-2A>G;ENST00000537549:exon7:c.681-2A>G;ENST00000590654:exon7:c.934-2A>G)	.	.	0.999990764389106	0.94
18	33269135	A	T	18	35689171	y	y	splicing	GALNT1(NM_020474:exon6:c.861-2A>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.861-2A>T;ENST00000269195:exon6:c.861-2A>T;ENST00000537549:exon7:c.681-2A>T;ENST00000590654:exon7:c.934-2A>T)	.	.	0.999990764389106	0.94
18	33269136	G	A	18	35689172	y	y	splicing	GALNT1(NM_020474:exon6:c.861-1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.861-1G>A;ENST00000269195:exon6:c.861-1G>A;ENST00000537549:exon7:c.681-1G>A;ENST00000590654:exon7:c.934-1G>A)	.	.	0.999989528922238	0.936
18	33269136	G	C	18	35689172	y	y	splicing	GALNT1(NM_020474:exon6:c.861-1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.861-1G>C;ENST00000269195:exon6:c.861-1G>C;ENST00000537549:exon7:c.681-1G>C;ENST00000590654:exon7:c.934-1G>C)	.	.	0.999989528922238	0.936
18	33269136	G	T	18	35689172	y	y	splicing	GALNT1(NM_020474:exon6:c.861-1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.861-1G>T;ENST00000269195:exon6:c.861-1G>T;ENST00000537549:exon7:c.681-1G>T;ENST00000590654:exon7:c.934-1G>T)	.	.	0.999989528922238	0.936
18	33269137	G	A	18	35689173	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon6:c.G861A:p.R287R;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G861A:p.R287R;ENSG00000141429:ENST00000537549:exon7:c.G681A:p.R227R;ENSG00000141429:ENST00000269195:exon6:c.G861A:p.R287R;	0.00931674967195902	0.182
18	33269137	G	C	18	35689173	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.G861C:p.R287S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G861C:p.R287S;ENSG00000141429:ENST00000537549:exon7:c.G681C:p.R227S;ENSG00000141429:ENST00000269195:exon6:c.G861C:p.R287S;	0.981554304666907	0.706
18	33269137	G	T	18	35689173	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.G861T:p.R287S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G861T:p.R287S;ENSG00000141429:ENST00000537549:exon7:c.G681T:p.R227S;ENSG00000141429:ENST00000269195:exon6:c.G861T:p.R287S;	0.996527194841484	0.788
18	33269138	A	C	18	35689174	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.A862C:p.T288P;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.A862C:p.T288P;ENSG00000141429:ENST00000537549:exon7:c.A682C:p.T228P;ENSG00000141429:ENST00000269195:exon6:c.A862C:p.T288P;	0.893027627447125	0.718
18	33269138	A	G	18	35689174	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.A862G:p.T288A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.A862G:p.T288A;ENSG00000141429:ENST00000537549:exon7:c.A682G:p.T228A;ENSG00000141429:ENST00000269195:exon6:c.A862G:p.T288A;	0.859431362621231	0.62
18	33269138	A	T	18	35689174	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.A862T:p.T288S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.A862T:p.T288S;ENSG00000141429:ENST00000537549:exon7:c.A682T:p.T228S;ENSG00000141429:ENST00000269195:exon6:c.A862T:p.T288S;	0.00371465378972178	0.022
18	33269252	A	C	18	35689288	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon6:c.A976C:p.R326R;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.A976C:p.R326R;ENSG00000141429:ENST00000537549:exon7:c.A796C:p.R266R;ENSG00000141429:ENST00000269195:exon6:c.A976C:p.R326R;	0.00935876303335356	0.076
18	33269252	A	G	18	35689288	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.A976G:p.R326G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.A976G:p.R326G;ENSG00000141429:ENST00000537549:exon7:c.A796G:p.R266G;ENSG00000141429:ENST00000269195:exon6:c.A976G:p.R326G;	0.348640123843583	0.386
18	33269252	A	T	18	35689288	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.A976T:p.R326W;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.A976T:p.R326W;ENSG00000141429:ENST00000537549:exon7:c.A796T:p.R266W;ENSG00000141429:ENST00000269195:exon6:c.A976T:p.R326W;	0.923361757874952	0.444
18	33269253	G	A	18	35689289	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.G977A:p.R326K;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G977A:p.R326K;ENSG00000141429:ENST00000537549:exon7:c.G797A:p.R266K;ENSG00000141429:ENST00000269195:exon6:c.G977A:p.R326K;	0.960387068864833	0.644
18	33269253	G	C	18	35689289	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.G977C:p.R326T;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G977C:p.R326T;ENSG00000141429:ENST00000537549:exon7:c.G797C:p.R266T;ENSG00000141429:ENST00000269195:exon6:c.G977C:p.R326T;	0.992681485626264	0.886
18	33269253	G	T	18	35689289	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.G977T:p.R326M;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G977T:p.R326M;ENSG00000141429:ENST00000537549:exon7:c.G797T:p.R266M;ENSG00000141429:ENST00000269195:exon6:c.G977T:p.R326M;	0.992302564567943	0.856
18	33269254	G	A	18	35689290	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon6:c.G978A:p.R326R;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G978A:p.R326R;ENSG00000141429:ENST00000537549:exon7:c.G798A:p.R266R;ENSG00000141429:ENST00000269195:exon6:c.G978A:p.R326R;	0.939880237348308	0.676
18	33269254	G	C	18	35689290	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.G978C:p.R326S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G978C:p.R326S;ENSG00000141429:ENST00000537549:exon7:c.G798C:p.R266S;ENSG00000141429:ENST00000269195:exon6:c.G978C:p.R326S;	0.999775096380796	0.918
18	33269254	G	T	18	35689290	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon6:c.G978T:p.R326S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon7:c.G978T:p.R326S;ENSG00000141429:ENST00000537549:exon7:c.G798T:p.R266S;ENSG00000141429:ENST00000269195:exon6:c.G978T:p.R326S;	0.999601979673868	0.91
18	33269255	G	A	18	35689291	y	y	splicing	GALNT1(NM_020474:exon6:c.978+1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.978+1G>A;ENST00000269195:exon6:c.978+1G>A;ENST00000537549:exon7:c.798+1G>A;ENST00000590654:exon7:c.1051+1G>A)	.	.	0.999986675681007	0.932
18	33269255	G	C	18	35689291	y	y	splicing	GALNT1(NM_020474:exon6:c.978+1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.978+1G>C;ENST00000269195:exon6:c.978+1G>C;ENST00000537549:exon7:c.798+1G>C;ENST00000590654:exon7:c.1051+1G>C)	.	.	0.999986675681007	0.932
18	33269255	G	T	18	35689291	y	y	splicing	GALNT1(NM_020474:exon6:c.978+1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.978+1G>T;ENST00000269195:exon6:c.978+1G>T;ENST00000537549:exon7:c.798+1G>T;ENST00000590654:exon7:c.1051+1G>T)	.	.	0.999986675681007	0.932
18	33269256	T	A	18	35689292	y	y	splicing	GALNT1(NM_020474:exon6:c.978+2T>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.978+2T>A;ENST00000269195:exon6:c.978+2T>A;ENST00000537549:exon7:c.798+2T>A;ENST00000590654:exon7:c.1051+2T>A)	.	.	0.999988247793601	0.928
18	33269256	T	C	18	35689292	y	y	splicing	GALNT1(NM_020474:exon6:c.978+2T>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.978+2T>C;ENST00000269195:exon6:c.978+2T>C;ENST00000537549:exon7:c.798+2T>C;ENST00000590654:exon7:c.1051+2T>C)	.	.	0.994669226766359	0.632
18	33269256	T	G	18	35689292	y	y	splicing	GALNT1(NM_020474:exon6:c.978+2T>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon7:c.978+2T>G;ENST00000269195:exon6:c.978+2T>G;ENST00000537549:exon7:c.798+2T>G;ENST00000590654:exon7:c.1051+2T>G)	.	.	0.999988247793601	0.928
18	33269257	A	C	18	35689293	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.965966105534589	0.648
18	33269257	A	G	18	35689293	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00214418041680623	0.026
18	33269257	A	T	18	35689293	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.862210769354226	0.56
18	33269258	A	C	18	35689294	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.849092917054814	0.53
18	33269258	A	G	18	35689294	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.958779219345109	0.644
18	33269258	A	T	18	35689294	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.903269822864226	0.516
18	33269259	G	A	18	35689295	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.998962965998219	0.934
18	33269259	G	C	18	35689295	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.994527351753854	0.88
18	33269259	G	T	18	35689295	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.992076959914882	0.826
18	33269260	T	A	18	35689296	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.160003758797676	0.308
18	33269260	T	C	18	35689296	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0657922900662394	0.29
18	33269260	T	G	18	35689296	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.014638045244122	0.214
18	33269261	T	A	18	35689297	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.5908222467397E-5	0.0
18	33269261	T	C	18	35689297	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.09316813601654E-5	0.002
18	33269261	T	G	18	35689297	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.5908222467397E-5	0.0
18	33269262	C	A	18	35689298	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.29450598183642E-5	0.01
18	33269262	C	G	18	35689298	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.02101460108743E-4	0.01
18	33269262	C	T	18	35689298	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.45497458489766E-5	0.006
18	33270964	T	A	18	35691000	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999366753652127	0.964
18	33270964	T	C	18	35691000	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.48170672237424E-4	0.008
18	33270964	T	G	18	35691000	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0353724379714279	0.342
18	33270965	G	A	18	35691001	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.00819195750788E-4	0.012
18	33270965	G	C	18	35691001	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.93909660076267E-5	0.002
18	33270965	G	T	18	35691001	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.25315374893956E-5	0.002
18	33270966	C	A	18	35691002	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.82773627419244E-4	0.058
18	33270966	C	G	18	35691002	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.58278572877551E-4	0.026
18	33270966	C	T	18	35691002	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.98868283655284E-5	0.006
18	33270967	T	A	18	35691003	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999845563561291	0.952
18	33270967	T	C	18	35691003	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.00496977911312E-5	0.026
18	33270967	T	G	18	35691003	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.234228743356508	0.456
18	33270968	G	A	18	35691004	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.54409384837634E-4	0.016
18	33270968	G	C	18	35691004	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.38141687102701E-4	0.006
18	33270968	G	T	18	35691004	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.11329394918007E-5	0.006
18	33270969	T	A	18	35691005	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0164899879605484	0.154
18	33270969	T	C	18	35691005	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.06068843526005E-4	0.006
18	33270969	T	G	18	35691005	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.016256575222823	0.122
18	33270970	T	A	18	35691006	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.610759107165752	0.462
18	33270970	T	C	18	35691006	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.14427400711004E-4	0.014
18	33270970	T	G	18	35691006	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.58022666314102	0.52
18	33270971	T	A	18	35691007	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.951256414565013	0.704
18	33270971	T	C	18	35691007	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00101946199013344	0.042
18	33270971	T	G	18	35691007	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.965156825757615	0.708
18	33270972	T	A	18	35691008	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.83780783215248E-5	0.01
18	33270972	T	C	18	35691008	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.73969486884687E-5	0.006
18	33270972	T	G	18	35691008	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.78636545638481E-5	0.0
18	33270973	C	A	18	35691009	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.998829398886086	0.846
18	33270973	C	G	18	35691009	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999922834276165	0.968
18	33270973	C	T	18	35691009	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.472387186736184	0.226
18	33270974	A	C	18	35691010	y	y	splicing	GALNT1(NM_020474:exon7:c.979-2A>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.979-2A>C;ENST00000269195:exon7:c.979-2A>C;ENST00000537549:exon8:c.799-2A>C;ENST00000590654:exon8:c.1052-2A>C)	.	.	0.999988247793601	0.932
18	33270974	A	G	18	35691010	y	y	splicing	GALNT1(NM_020474:exon7:c.979-2A>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.979-2A>G;ENST00000269195:exon7:c.979-2A>G;ENST00000537549:exon8:c.799-2A>G;ENST00000590654:exon8:c.1052-2A>G)	.	.	0.999988247793601	0.932
18	33270974	A	T	18	35691010	y	y	splicing	GALNT1(NM_020474:exon7:c.979-2A>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.979-2A>T;ENST00000269195:exon7:c.979-2A>T;ENST00000537549:exon8:c.799-2A>T;ENST00000590654:exon8:c.1052-2A>T)	.	.	0.999988247793601	0.932
18	33270975	G	A	18	35691011	y	y	splicing	GALNT1(NM_020474:exon7:c.979-1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.979-1G>A;ENST00000269195:exon7:c.979-1G>A;ENST00000537549:exon8:c.799-1G>A;ENST00000590654:exon8:c.1052-1G>A)	.	.	0.999993148181228	0.932
18	33270975	G	C	18	35691011	y	y	splicing	GALNT1(NM_020474:exon7:c.979-1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.979-1G>C;ENST00000269195:exon7:c.979-1G>C;ENST00000537549:exon8:c.799-1G>C;ENST00000590654:exon8:c.1052-1G>C)	.	.	0.999993148181228	0.932
18	33270975	G	T	18	35691011	y	y	splicing	GALNT1(NM_020474:exon7:c.979-1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.979-1G>T;ENST00000269195:exon7:c.979-1G>T;ENST00000537549:exon8:c.799-1G>T;ENST00000590654:exon8:c.1052-1G>T)	.	.	0.999993148181228	0.932
18	33270976	A	C	18	35691012	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.A979C:p.I327L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.A979C:p.I327L;ENSG00000141429:ENST00000537549:exon8:c.A799C:p.I267L;ENSG00000141429:ENST00000269195:exon7:c.A979C:p.I327L;	0.435162231259409	0.616
18	33270976	A	G	18	35691012	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.A979G:p.I327V;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.A979G:p.I327V;ENSG00000141429:ENST00000537549:exon8:c.A799G:p.I267V;ENSG00000141429:ENST00000269195:exon7:c.A979G:p.I327V;	0.00459710934961424	0.032
18	33270976	A	T	18	35691012	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.A979T:p.I327F;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.A979T:p.I327F;ENSG00000141429:ENST00000537549:exon8:c.A799T:p.I267F;ENSG00000141429:ENST00000269195:exon7:c.A979T:p.I327F;	0.395915145127354	0.532
18	33270977	T	A	18	35691013	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.T980A:p.I327N;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.T980A:p.I327N;ENSG00000141429:ENST00000537549:exon8:c.T800A:p.I267N;ENSG00000141429:ENST00000269195:exon7:c.T980A:p.I327N;	0.301584809657522	0.478
18	33270977	T	C	18	35691013	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.T980C:p.I327T;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.T980C:p.I327T;ENSG00000141429:ENST00000537549:exon8:c.T800C:p.I267T;ENSG00000141429:ENST00000269195:exon7:c.T980C:p.I327T;	0.264115073462965	0.33
18	33270977	T	G	18	35691013	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.T980G:p.I327S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.T980G:p.I327S;ENSG00000141429:ENST00000537549:exon8:c.T800G:p.I267S;ENSG00000141429:ENST00000269195:exon7:c.T980G:p.I327S;	0.301584809657522	0.508
18	33271154	C	A	18	35691190	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.C1157A:p.P386Q;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.C1157A:p.P386Q;ENSG00000141429:ENST00000537549:exon8:c.C977A:p.P326Q;ENSG00000141429:ENST00000269195:exon7:c.C1157A:p.P386Q;	0.91665163389149	0.818
18	33271154	C	G	18	35691190	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.C1157G:p.P386R;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.C1157G:p.P386R;ENSG00000141429:ENST00000537549:exon8:c.C977G:p.P326R;ENSG00000141429:ENST00000269195:exon7:c.C1157G:p.P386R;	0.80994274555526	0.68
18	33271154	C	T	18	35691190	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.C1157T:p.P386L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.C1157T:p.P386L;ENSG00000141429:ENST00000537549:exon8:c.C977T:p.P326L;ENSG00000141429:ENST00000269195:exon7:c.C1157T:p.P386L;	0.998533623365131	0.884
18	33271155	A	C	18	35691191	y	n	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon7:c.A1158C:p.P386P;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.A1158C:p.P386P;ENSG00000141429:ENST00000537549:exon8:c.A978C:p.P326P;ENSG00000141429:ENST00000269195:exon7:c.A1158C:p.P386P;	0.938047574281788	0.742
18	33271155	A	G	18	35691191	y	n	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon7:c.A1158G:p.P386P;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.A1158G:p.P386P;ENSG00000141429:ENST00000537549:exon8:c.A978G:p.P326P;ENSG00000141429:ENST00000269195:exon7:c.A1158G:p.P386P;	0.996206905509723	0.794
18	33271155	A	T	18	35691191	y	n	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon7:c.A1158T:p.P386P;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.A1158T:p.P386P;ENSG00000141429:ENST00000537549:exon8:c.A978T:p.P326P;ENSG00000141429:ENST00000269195:exon7:c.A1158T:p.P386P;	0.971699637167186	0.786
18	33271156	G	A	18	35691192	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.G1159A:p.G387S;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.G1159A:p.G387S;ENSG00000141429:ENST00000537549:exon8:c.G979A:p.G327S;ENSG00000141429:ENST00000269195:exon7:c.G1159A:p.G387S;	0.999991879668467	0.998
18	33271156	G	C	18	35691192	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.G1159C:p.G387R;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.G1159C:p.G387R;ENSG00000141429:ENST00000537549:exon8:c.G979C:p.G327R;ENSG00000141429:ENST00000269195:exon7:c.G1159C:p.G387R;	0.999998312535482	1.0
18	33271156	G	T	18	35691192	y	n	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon7:c.G1159T:p.G387C;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.G1159T:p.G387C;ENSG00000141429:ENST00000537549:exon8:c.G979T:p.G327C;ENSG00000141429:ENST00000269195:exon7:c.G1159T:p.G387C;	0.999990896815231	0.994
18	33271157	G	A	18	35691193	y	n	splicing	GALNT1(NM_020474:exon7:c.1159+1G>A)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000269195:exon7:c.1159+1G>A;ENST00000537549:exon8:c.979+1G>A;ENST00000590654:exon8:c.1232+1G>A)	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.G1160A:p.G387D;	0.999986675681007	0.932
18	33271157	G	C	18	35691193	y	n	splicing	GALNT1(NM_020474:exon7:c.1159+1G>C)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000269195:exon7:c.1159+1G>C;ENST00000537549:exon8:c.979+1G>C;ENST00000590654:exon8:c.1232+1G>C)	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.G1160C:p.G387A;	0.999986675681007	0.932
18	33271157	G	T	18	35691193	y	n	splicing	GALNT1(NM_020474:exon7:c.1159+1G>T)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000269195:exon7:c.1159+1G>T;ENST00000537549:exon8:c.979+1G>T;ENST00000590654:exon8:c.1232+1G>T)	nonsynonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.G1160T:p.G387V;	0.999986675681007	0.932
18	33271158	T	A	18	35691194	y	n	splicing	GALNT1(NM_020474:exon7:c.1159+2T>A)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000269195:exon7:c.1159+2T>A;ENST00000537549:exon8:c.979+2T>A;ENST00000590654:exon8:c.1232+2T>A)	synonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.T1161A:p.G387G;	0.999981808176352	0.922
18	33271158	T	C	18	35691194	y	n	splicing	GALNT1(NM_020474:exon7:c.1159+2T>C)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000269195:exon7:c.1159+2T>C;ENST00000537549:exon8:c.979+2T>C;ENST00000590654:exon8:c.1232+2T>C)	synonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.T1161C:p.G387G;	0.999923863203113	0.904
18	33271158	T	G	18	35691194	y	n	splicing	GALNT1(NM_020474:exon7:c.1159+2T>G)	.	.	exonic;splicing	ENSG00000141429;ENSG00000141429(ENST00000269195:exon7:c.1159+2T>G;ENST00000537549:exon8:c.979+2T>G;ENST00000590654:exon8:c.1232+2T>G)	synonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.T1161G:p.G387G;	0.999981808176352	0.922
18	33271159	T	A	18	35691195	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000589189:exon8:c.T1162A:p.X388K;	0.00125889747850513	0.112
18	33271159	T	C	18	35691195	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000589189:exon8:c.T1162C:p.X388Q;	2.82762100422436E-4	0.142
18	33271159	T	G	18	35691195	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000589189:exon8:c.T1162G:p.X388E;	0.00137061747625497	0.072
18	33271160	A	C	18	35691196	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000589189:exon8:c.A1163C:p.X388S;	0.194322282359531	0.45
18	33271160	A	G	18	35691196	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000589189:exon8:c.A1163G:p.X388W;	0.316037094536713	0.472
18	33271160	A	T	18	35691196	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000589189:exon8:c.A1163T:p.X388L;	0.600164726235236	0.482
18	33271161	G	A	18	35691197	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000589189:exon8:c.G1164A:p.X388X;	0.999888276702134	0.968
18	33271161	G	C	18	35691197	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000589189:exon8:c.G1164C:p.X388Y;	0.999981672374813	0.994
18	33271161	G	T	18	35691197	y	n	intronic	GALNT1	.	.	exonic	ENSG00000141429	stoploss SNV	ENSG00000141429:ENST00000589189:exon8:c.G1164T:p.X388Y;	0.999968408814216	0.974
18	33271162	C	A	18	35691198	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.91119873963817E-4	0.04
18	33271162	C	G	18	35691198	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	2.46205332684216E-4	0.042
18	33271162	C	T	18	35691198	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	8.28705304508861E-5	0.06
18	33271163	G	A	18	35691199	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.24352167067539E-5	0.002
18	33271163	G	C	18	35691199	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.01174165683835E-5	0.0
18	33271163	G	T	18	35691199	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	2.93359067446576E-5	0.0
18	33271164	T	A	18	35691200	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	3.31733714878342E-5	0.0
18	33271164	T	C	18	35691200	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	4.1617483511911E-5	0.0
18	33271164	T	G	18	35691200	y	n	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	3.66383572812061E-5	0.0
18	33271187	G	A	18	35691223	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	6.35428655471156E-5	0.012
18	33271187	G	C	18	35691223	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	8.49702646665041E-5	0.004
18	33271187	G	T	18	35691223	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	8.49702646665041E-5	0.006
18	33271188	C	A	18	35691224	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	3.93972165730067E-5	0.0
18	33271188	C	G	18	35691224	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	3.93972165730067E-5	0.0
18	33271188	C	T	18	35691224	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	3.93972165730067E-5	0.002
18	33271189	T	A	18	35691225	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	5.69439264402225E-5	0.0
18	33271189	T	C	18	35691225	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	5.69439264402225E-5	0.0
18	33271189	T	G	18	35691225	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	5.69439264402225E-5	0.0
18	33271190	G	A	18	35691226	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.1192+1G>A)	.	.	7.52881759733747E-5	0.0
18	33271190	G	C	18	35691226	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.1192+1G>C)	.	.	7.52881759733747E-5	0.0
18	33271190	G	T	18	35691226	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.1192+1G>T)	.	.	7.52881759733747E-5	0.0
18	33271191	T	A	18	35691227	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.1192+2T>A)	.	.	1.05918261028706E-4	0.0
18	33271191	T	C	18	35691227	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.1192+2T>C)	.	.	8.18508521125715E-5	0.0
18	33271191	T	G	18	35691227	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon8:c.1192+2T>G)	.	.	8.18508521125715E-5	0.0
18	33271192	A	C	18	35691228	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00295790569149578	0.01
18	33271192	A	G	18	35691228	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00295790569149578	0.01
18	33271192	A	T	18	35691228	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00437100848571084	0.01
18	33271193	C	A	18	35691229	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.09069146030101E-5	0.002
18	33271193	C	G	18	35691229	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.09069146030101E-5	0.002
18	33271193	C	T	18	35691229	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.09069146030101E-5	0.002
18	33271194	C	A	18	35691230	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.04349982970396E-5	0.0
18	33271194	C	G	18	35691230	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.04349982970396E-5	0.0
18	33271194	C	T	18	35691230	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.04349982970396E-5	0.0
18	33271195	T	A	18	35691231	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.62965044666173E-5	0.004
18	33271195	T	C	18	35691231	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.59706358747764E-5	0.004
18	33271195	T	G	18	35691231	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.59706358747764E-5	0.004
18	33271196	T	A	18	35691232	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.46054017672216E-5	0.0
18	33271196	T	C	18	35691232	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.46054017672216E-5	0.0
18	33271196	T	G	18	35691232	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.46054017672216E-5	0.0
18	33271197	T	A	18	35691233	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.47959532904733E-5	0.022
18	33271197	T	C	18	35691233	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.30852315876377E-5	0.018
18	33271197	T	G	18	35691233	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.30852315876377E-5	0.018
18	33272133	T	A	18	35692169	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.761597278049982	0.518
18	33272133	T	C	18	35692169	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.63109947401316E-4	0.07
18	33272133	T	G	18	35692169	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.651130137008128	0.478
18	33272134	T	A	18	35692170	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999466679467115	0.93
18	33272134	T	C	18	35692170	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.93320790629471	0.45
18	33272134	T	G	18	35692170	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999239640173012	0.908
18	33272135	C	A	18	35692171	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.023563850238397	0.09
18	33272135	C	G	18	35692171	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0141574242209476	0.086
18	33272135	C	T	18	35692171	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00133469665640583	0.054
18	33272136	T	A	18	35692172	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.974253457989507	0.8
18	33272136	T	C	18	35692172	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0180013417589226	0.134
18	33272136	T	G	18	35692172	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.952802532064787	0.74
18	33272137	T	A	18	35692173	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.267199465272513	0.286
18	33272137	T	C	18	35692173	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00202140297659204	0.012
18	33272137	T	G	18	35692173	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.234672621041559	0.336
18	33272138	T	A	18	35692174	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.921146279337325	0.812
18	33272138	T	C	18	35692174	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.29512902629749E-4	0.01
18	33272138	T	G	18	35692174	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.839670178572461	0.748
18	33272139	C	A	18	35692175	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0217556686432369	0.194
18	33272139	C	G	18	35692175	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0203933059149585	0.23
18	33272139	C	T	18	35692175	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.80544477503069E-5	0.008
18	33272140	A	C	18	35692176	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.85433631414752E-5	0.006
18	33272140	A	G	18	35692176	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.60517579748258E-4	0.006
18	33272140	A	T	18	35692176	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.15003843895668E-5	0.002
18	33272141	A	C	18	35692177	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.35774883974917E-4	0.012
18	33272141	A	G	18	35692177	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.991582631923313	0.73
18	33272141	A	T	18	35692177	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00171078547696268	0.086
18	33272142	C	A	18	35692178	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999217682153501	0.902
18	33272142	C	G	18	35692178	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999965906106328	0.94
18	33272142	C	T	18	35692178	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.938599338613944	0.308
18	33272143	A	C	18	35692179	y	y	splicing	GALNT1(NM_020474:exon8:c.1160-2A>C)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1160-2A>C;ENST00000537549:exon9:c.980-2A>C;ENST00000590654:exon9:c.1233-2A>C)	.	.	0.999988247793601	0.928
18	33272143	A	G	18	35692179	y	y	splicing	GALNT1(NM_020474:exon8:c.1160-2A>G)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1160-2A>G;ENST00000537549:exon9:c.980-2A>G;ENST00000590654:exon9:c.1233-2A>G)	.	.	0.999988247793601	0.928
18	33272143	A	T	18	35692179	y	y	splicing	GALNT1(NM_020474:exon8:c.1160-2A>T)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1160-2A>T;ENST00000537549:exon9:c.980-2A>T;ENST00000590654:exon9:c.1233-2A>T)	.	.	0.999988247793601	0.928
18	33272144	G	A	18	35692180	y	y	splicing	GALNT1(NM_020474:exon8:c.1160-1G>A)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1160-1G>A;ENST00000537549:exon9:c.980-1G>A;ENST00000590654:exon9:c.1233-1G>A)	.	.	0.999985532734767	0.936
18	33272144	G	C	18	35692180	y	y	splicing	GALNT1(NM_020474:exon8:c.1160-1G>C)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1160-1G>C;ENST00000537549:exon9:c.980-1G>C;ENST00000590654:exon9:c.1233-1G>C)	.	.	0.999985532734767	0.936
18	33272144	G	T	18	35692180	y	y	splicing	GALNT1(NM_020474:exon8:c.1160-1G>T)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1160-1G>T;ENST00000537549:exon9:c.980-1G>T;ENST00000590654:exon9:c.1233-1G>T)	.	.	0.999985532734767	0.936
18	33272145	G	A	18	35692181	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.G1160A:p.G387D;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.G980A:p.G327D;ENSG00000141429:ENST00000269195:exon8:c.G1160A:p.G387D;	0.998635675951811	0.94
18	33272145	G	C	18	35692181	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.G1160C:p.G387A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.G980C:p.G327A;ENSG00000141429:ENST00000269195:exon8:c.G1160C:p.G387A;	0.999362771055007	0.984
18	33272145	G	T	18	35692181	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.G1160T:p.G387V;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.G980T:p.G327V;ENSG00000141429:ENST00000269195:exon8:c.G1160T:p.G387V;	0.999888027304256	0.994
18	33272146	T	A	18	35692182	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon8:c.T1161A:p.G387G;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.T981A:p.G327G;ENSG00000141429:ENST00000269195:exon8:c.T1161A:p.G387G;	0.0166547232143383	0.132
18	33272146	T	C	18	35692182	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon8:c.T1161C:p.G387G;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.T981C:p.G327G;ENSG00000141429:ENST00000269195:exon8:c.T1161C:p.G387G;	0.00759752995254258	0.108
18	33272146	T	G	18	35692182	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon8:c.T1161G:p.G387G;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.T981G:p.G327G;ENSG00000141429:ENST00000269195:exon8:c.T1161G:p.G387G;	0.00989288445308119	0.206
18	33272282	G	A	18	35692318	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.G1297A:p.E433K;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.G1117A:p.E373K;ENSG00000141429:ENST00000269195:exon8:c.G1297A:p.E433K;	0.916611319444115	0.8
18	33272282	G	C	18	35692318	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.G1297C:p.E433Q;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.G1117C:p.E373Q;ENSG00000141429:ENST00000269195:exon8:c.G1297C:p.E433Q;	0.916611319444115	0.782
18	33272282	G	T	18	35692318	y	y	exonic	GALNT1	stopgain SNV	GALNT1:NM_020474:exon8:c.G1297T:p.E433X;	exonic	ENSG00000141429	stopgain SNV	ENSG00000141429:ENST00000537549:exon9:c.G1117T:p.E373X;ENSG00000141429:ENST00000269195:exon8:c.G1297T:p.E433X;	0.976062443986914	0.88
18	33272283	A	C	18	35692319	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.A1298C:p.E433A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.A1118C:p.E373A;ENSG00000141429:ENST00000269195:exon8:c.A1298C:p.E433A;	0.994368653000878	0.956
18	33272283	A	G	18	35692319	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.A1298G:p.E433G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.A1118G:p.E373G;ENSG00000141429:ENST00000269195:exon8:c.A1298G:p.E433G;	0.999755235035738	0.998
18	33272283	A	T	18	35692319	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.A1298T:p.E433V;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.A1118T:p.E373V;ENSG00000141429:ENST00000269195:exon8:c.A1298T:p.E433V;	0.999486142847443	0.968
18	33272284	G	A	18	35692320	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon8:c.G1299A:p.E433E;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.G1119A:p.E373E;ENSG00000141429:ENST00000269195:exon8:c.G1299A:p.E433E;	0.996422702422824	0.914
18	33272284	G	C	18	35692320	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.G1299C:p.E433D;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.G1119C:p.E373D;ENSG00000141429:ENST00000269195:exon8:c.G1299C:p.E433D;	0.999925587159514	0.938
18	33272284	G	T	18	35692320	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon8:c.G1299T:p.E433D;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon9:c.G1119T:p.E373D;ENSG00000141429:ENST00000269195:exon8:c.G1299T:p.E433D;	0.999972758806489	0.986
18	33272285	G	A	18	35692321	y	y	splicing	GALNT1(NM_020474:exon8:c.1299+1G>A)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1299+1G>A;ENST00000537549:exon9:c.1119+1G>A;ENST00000590654:exon9:c.1372+1G>A)	.	.	0.999981760802075	0.938
18	33272285	G	C	18	35692321	y	y	splicing	GALNT1(NM_020474:exon8:c.1299+1G>C)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1299+1G>C;ENST00000537549:exon9:c.1119+1G>C;ENST00000590654:exon9:c.1372+1G>C)	.	.	0.999981760802075	0.938
18	33272285	G	T	18	35692321	y	y	splicing	GALNT1(NM_020474:exon8:c.1299+1G>T)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1299+1G>T;ENST00000537549:exon9:c.1119+1G>T;ENST00000590654:exon9:c.1372+1G>T)	.	.	0.999981760802075	0.938
18	33272286	T	A	18	35692322	y	y	splicing	GALNT1(NM_020474:exon8:c.1299+2T>A)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1299+2T>A;ENST00000537549:exon9:c.1119+2T>A;ENST00000590654:exon9:c.1372+2T>A)	.	.	0.999988247793601	0.928
18	33272286	T	C	18	35692322	y	y	splicing	GALNT1(NM_020474:exon8:c.1299+2T>C)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1299+2T>C;ENST00000537549:exon9:c.1119+2T>C;ENST00000590654:exon9:c.1372+2T>C)	.	.	0.99340600729494	0.638
18	33272286	T	G	18	35692322	y	y	splicing	GALNT1(NM_020474:exon8:c.1299+2T>G)	.	.	splicing	ENSG00000141429(ENST00000269195:exon8:c.1299+2T>G;ENST00000537549:exon9:c.1119+2T>G;ENST00000590654:exon9:c.1372+2T>G)	.	.	0.999988247793601	0.928
18	33272287	A	C	18	35692323	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.979481546534592	0.738
18	33272287	A	G	18	35692323	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.212809981191026	0.334
18	33272287	A	T	18	35692323	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.994410866018386	0.758
18	33272288	A	C	18	35692324	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.5985695518759	0.452
18	33272288	A	G	18	35692324	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.354843222046413	0.288
18	33272288	A	T	18	35692324	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.72025516525527	0.47
18	33272289	G	A	18	35692325	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.697220789687042	0.496
18	33272289	G	C	18	35692325	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.10589496205044	0.432
18	33272289	G	T	18	35692325	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.106366830879981	0.384
18	33272290	A	C	18	35692326	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.04912161697496E-4	0.004
18	33272290	A	G	18	35692326	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.49099996914444E-5	0.018
18	33272290	A	T	18	35692326	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.22304872827328E-5	0.008
18	33272291	A	C	18	35692327	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.43165207983103E-4	0.0
18	33272291	A	G	18	35692327	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.43165207983103E-4	0.012
18	33272291	A	T	18	35692327	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.0919544924523E-4	0.0
18	33272292	A	C	18	35692328	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.72974467393449E-4	0.028
18	33272292	A	G	18	35692328	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.60081151915995E-4	0.032
18	33272292	A	T	18	35692328	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.81456590373184E-4	0.07
18	33282757	G	A	18	35702793	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.67378569920084E-5	0.002
18	33282757	G	C	18	35702793	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.85892088628007E-5	0.002
18	33282757	G	T	18	35702793	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.67378569920084E-5	0.002
18	33282758	G	A	18	35702794	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.38113264713725E-5	0.052
18	33282758	G	C	18	35702794	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.53292460361593E-5	0.042
18	33282758	G	T	18	35702794	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.53292460361593E-5	0.044
18	33282759	C	A	18	35702795	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.27456659313109E-5	0.0
18	33282759	C	G	18	35702795	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.27456659313109E-5	0.0
18	33282759	C	T	18	35702795	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.27456659313109E-5	0.0
18	33282760	C	A	18	35702796	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.59802355779309E-5	0.0
18	33282760	C	G	18	35702796	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.59802355779309E-5	0.0
18	33282760	C	T	18	35702796	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.80332477406426E-5	0.0
18	33282761	A	C	18	35702797	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.05089878083976E-4	0.014
18	33282761	A	G	18	35702797	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.05089878083976E-4	0.014
18	33282761	A	T	18	35702797	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.05089878083976E-4	0.04
18	33282762	G	A	18	35702798	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.38863475275964E-5	0.0
18	33282762	G	C	18	35702798	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.19415310822882E-5	0.026
18	33282762	G	T	18	35702798	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.38863475275964E-5	0.0
18	33282763	G	A	18	35702799	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.02337758398172E-4	0.0
18	33282763	G	C	18	35702799	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.27237026149931E-5	0.0
18	33282763	G	T	18	35702799	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.27237026149931E-5	0.0
18	33282764	G	A	18	35702800	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.69439264402225E-5	0.0
18	33282764	G	C	18	35702800	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.15941453541388E-5	0.002
18	33282764	G	T	18	35702800	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.15941453541388E-5	0.0
18	33282765	A	C	18	35702801	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.04278140930798E-5	0.004
18	33282765	A	G	18	35702801	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.04278140930798E-5	0.006
18	33282765	A	T	18	35702801	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.04278140930798E-5	0.004
18	33282766	A	C	18	35702802	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.04278140930798E-5	0.004
18	33282766	A	G	18	35702802	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.04278140930798E-5	0.004
18	33282766	A	T	18	35702802	n	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.04278140930798E-5	0.004
18	33282767	A	C	18	35702803	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1193-2A>C)	.	.	1.71203364201335E-4	0.058
18	33282767	A	G	18	35702803	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1193-2A>G)	.	.	1.71203364201335E-4	0.058
18	33282767	A	T	18	35702803	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1193-2A>T)	.	.	1.71203364201335E-4	0.058
18	33282768	G	A	18	35702804	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1193-1G>A)	.	.	2.81980434129717E-4	0.06
18	33282768	G	C	18	35702804	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1193-1G>C)	.	.	1.5641450458675E-4	0.066
18	33282768	G	T	18	35702804	n	y	intronic	GALNT1	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1193-1G>T)	.	.	2.00423232749726E-4	0.066
18	33282769	T	A	18	35702805	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.02728736892418E-4	0.002
18	33282769	T	C	18	35702805	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	7.30127177594752E-5	0.008
18	33282769	T	G	18	35702805	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.02728736892418E-4	0.024
18	33282770	T	A	18	35702806	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	2.71068638037575E-4	0.022
18	33282770	T	C	18	35702806	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	3.86867110297081E-4	0.02
18	33282770	T	G	18	35702806	n	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	3.86867110297081E-4	0.02
18	33282849	A	C	18	35702885	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	7.43696130988308E-6	0.0
18	33282849	A	G	18	35702885	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.90428413925386E-5	0.028
18	33282849	A	T	18	35702885	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.60498925271271E-5	0.004
18	33282850	T	A	18	35702886	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.900222610406404	0.67
18	33282850	T	C	18	35702886	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0172271026655687	0.2
18	33282850	T	G	18	35702886	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.999825226533601	0.924
18	33282851	T	A	18	35702887	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.999937298077434	0.966
18	33282851	T	C	18	35702887	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.00392482209774422	0.068
18	33282851	T	G	18	35702887	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.631046766640956	0.636
18	33282852	G	A	18	35702888	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	2.14838250161596E-4	0.01
18	33282852	G	C	18	35702888	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.09165861852373E-4	0.004
18	33282852	G	T	18	35702888	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	8.60685517319993E-5	0.0
18	33282853	T	A	18	35702889	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.136168621805256	0.404
18	33282853	T	C	18	35702889	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	6.29306004690163E-5	0.006
18	33282853	T	G	18	35702889	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0140234732757991	0.38
18	33282854	C	A	18	35702890	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0213637380207272	0.18
18	33282854	C	G	18	35702890	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0167091492656208	0.16
18	33282854	C	T	18	35702890	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	8.69254303261388E-5	0.004
18	33282855	C	A	18	35702891	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0142807401163521	0.182
18	33282855	C	G	18	35702891	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0475737434062286	0.226
18	33282855	C	T	18	35702891	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	5.27878178151841E-5	0.012
18	33282856	C	A	18	35702892	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0129888834953657	0.088
18	33282856	C	G	18	35702892	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.0131357786324836	0.18
18	33282856	C	T	18	35702892	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	5.02654362249105E-5	0.008
18	33282857	A	C	18	35702893	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	9.61494748605793E-5	0.0
18	33282857	A	G	18	35702893	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	1.54993184343973E-4	0.008
18	33282857	A	T	18	35702893	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	8.87396613535945E-5	0.03
18	33282858	T	A	18	35702894	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.274399111689458	0.324
18	33282858	T	C	18	35702894	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	2.41359887721133E-5	0.008
18	33282858	T	G	18	35702894	y	y	intronic	GALNT1	.	.	UTR3	ENSG00000141429	.	.	0.987651449042518	0.71
18	33282859	A	C	18	35702895	y	y	splicing	GALNT1(NM_020474:exon9:c.1300-2A>C)	.	.	splicing	ENSG00000141429(ENST00000269195:exon9:c.1300-2A>C;ENST00000537549:exon10:c.1120-2A>C;ENST00000590654:exon10:c.1373-2A>C)	.	.	0.999988247793601	0.93
18	33282859	A	G	18	35702895	y	y	splicing	GALNT1(NM_020474:exon9:c.1300-2A>G)	.	.	splicing	ENSG00000141429(ENST00000269195:exon9:c.1300-2A>G;ENST00000537549:exon10:c.1120-2A>G;ENST00000590654:exon10:c.1373-2A>G)	.	.	0.999988247793601	0.93
18	33282859	A	T	18	35702895	y	y	splicing	GALNT1(NM_020474:exon9:c.1300-2A>T)	.	.	splicing	ENSG00000141429(ENST00000269195:exon9:c.1300-2A>T;ENST00000537549:exon10:c.1120-2A>T;ENST00000590654:exon10:c.1373-2A>T)	.	.	0.999988247793601	0.93
18	33282860	G	A	18	35702896	y	y	splicing	GALNT1(NM_020474:exon9:c.1300-1G>A)	.	.	splicing	ENSG00000141429(ENST00000269195:exon9:c.1300-1G>A;ENST00000537549:exon10:c.1120-1G>A;ENST00000590654:exon10:c.1373-1G>A)	.	.	0.999990361384395	0.938
18	33282860	G	C	18	35702896	y	y	splicing	GALNT1(NM_020474:exon9:c.1300-1G>C)	.	.	splicing	ENSG00000141429(ENST00000269195:exon9:c.1300-1G>C;ENST00000537549:exon10:c.1120-1G>C;ENST00000590654:exon10:c.1373-1G>C)	.	.	0.999990361384395	0.938
18	33282860	G	T	18	35702896	y	y	splicing	GALNT1(NM_020474:exon9:c.1300-1G>T)	.	.	splicing	ENSG00000141429(ENST00000269195:exon9:c.1300-1G>T;ENST00000537549:exon10:c.1120-1G>T;ENST00000590654:exon10:c.1373-1G>T)	.	.	0.999990361384395	0.938
18	33282861	A	C	18	35702897	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.A1300C:p.I434L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.A1120C:p.I374L;ENSG00000141429:ENST00000269195:exon9:c.A1300C:p.I434L;	0.662277294069517	0.722
18	33282861	A	G	18	35702897	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.A1300G:p.I434V;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.A1120G:p.I374V;ENSG00000141429:ENST00000269195:exon9:c.A1300G:p.I434V;	0.0031434373051132	0.028
18	33282861	A	T	18	35702897	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.A1300T:p.I434L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.A1120T:p.I374L;ENSG00000141429:ENST00000269195:exon9:c.A1300T:p.I434L;	0.583319081318758	0.598
18	33282862	T	A	18	35702898	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.T1301A:p.I434K;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.T1121A:p.I374K;ENSG00000141429:ENST00000269195:exon9:c.T1301A:p.I434K;	0.818383190019522	0.646
18	33282862	T	C	18	35702898	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.T1301C:p.I434T;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.T1121C:p.I374T;ENSG00000141429:ENST00000269195:exon9:c.T1301C:p.I434T;	0.510909637493739	0.632
18	33282862	T	G	18	35702898	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.T1301G:p.I434R;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.T1121G:p.I374R;ENSG00000141429:ENST00000269195:exon9:c.T1301G:p.I434R;	0.841395300544424	0.62
18	33282957	C	A	18	35702993	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.C1396A:p.Q466K;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.C1216A:p.Q406K;ENSG00000141429:ENST00000269195:exon9:c.C1396A:p.Q466K;	0.970138450969	0.824
18	33282957	C	G	18	35702993	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.C1396G:p.Q466E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.C1216G:p.Q406E;ENSG00000141429:ENST00000269195:exon9:c.C1396G:p.Q466E;	0.929521433875397	0.588
18	33282957	C	T	18	35702993	y	y	exonic	GALNT1	stopgain SNV	GALNT1:NM_020474:exon9:c.C1396T:p.Q466X;	exonic	ENSG00000141429	stopgain SNV	ENSG00000141429:ENST00000537549:exon10:c.C1216T:p.Q406X;ENSG00000141429:ENST00000269195:exon9:c.C1396T:p.Q466X;	0.998012884132283	0.786
18	33282958	A	C	18	35702994	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.A1397C:p.Q466P;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.A1217C:p.Q406P;ENSG00000141429:ENST00000269195:exon9:c.A1397C:p.Q466P;	0.983617213775442	0.774
18	33282958	A	G	18	35702994	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.A1397G:p.Q466R;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.A1217G:p.Q406R;ENSG00000141429:ENST00000269195:exon9:c.A1397G:p.Q466R;	0.993032790389658	0.878
18	33282958	A	T	18	35702994	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.A1397T:p.Q466L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.A1217T:p.Q406L;ENSG00000141429:ENST00000269195:exon9:c.A1397T:p.Q466L;	0.986457469967986	0.558
18	33282959	G	A	18	35702995	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon9:c.G1398A:p.Q466Q;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.G1218A:p.Q406Q;ENSG00000141429:ENST00000269195:exon9:c.G1398A:p.Q466Q;	0.999539049246489	0.88
18	33282959	G	C	18	35702995	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.G1398C:p.Q466H;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.G1218C:p.Q406H;ENSG00000141429:ENST00000269195:exon9:c.G1398C:p.Q466H;	0.999900858332805	0.91
18	33282959	G	T	18	35702995	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon9:c.G1398T:p.Q466H;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon10:c.G1218T:p.Q406H;ENSG00000141429:ENST00000269195:exon9:c.G1398T:p.Q466H;	0.999910872543646	0.918
18	33282960	G	A	18	35702996	y	y	splicing	GALNT1(NM_020474:exon9:c.1398+1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1383+1G>A;ENST00000269195:exon9:c.1398+1G>A;ENST00000537549:exon10:c.1218+1G>A;ENST00000590654:exon10:c.1471+1G>A)	.	.	0.999990361384395	0.938
18	33282960	G	C	18	35702996	y	y	splicing	GALNT1(NM_020474:exon9:c.1398+1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1383+1G>C;ENST00000269195:exon9:c.1398+1G>C;ENST00000537549:exon10:c.1218+1G>C;ENST00000590654:exon10:c.1471+1G>C)	.	.	0.999990361384395	0.938
18	33282960	G	T	18	35702996	y	y	splicing	GALNT1(NM_020474:exon9:c.1398+1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1383+1G>T;ENST00000269195:exon9:c.1398+1G>T;ENST00000537549:exon10:c.1218+1G>T;ENST00000590654:exon10:c.1471+1G>T)	.	.	0.999990361384395	0.938
18	33282961	T	A	18	35702997	y	y	splicing	GALNT1(NM_020474:exon9:c.1398+2T>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1383+2T>A;ENST00000269195:exon9:c.1398+2T>A;ENST00000537549:exon10:c.1218+2T>A;ENST00000590654:exon10:c.1471+2T>A)	.	.	0.999988247793601	0.93
18	33282961	T	C	18	35702997	y	y	splicing	GALNT1(NM_020474:exon9:c.1398+2T>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1383+2T>C;ENST00000269195:exon9:c.1398+2T>C;ENST00000537549:exon10:c.1218+2T>C;ENST00000590654:exon10:c.1471+2T>C)	.	.	0.999945827492243	0.868
18	33282961	T	G	18	35702997	y	y	splicing	GALNT1(NM_020474:exon9:c.1398+2T>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon9:c.1383+2T>G;ENST00000269195:exon9:c.1398+2T>G;ENST00000537549:exon10:c.1218+2T>G;ENST00000590654:exon10:c.1471+2T>G)	.	.	0.999988247793601	0.93
18	33282962	G	A	18	35702998	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.10261755594663E-5	0.0
18	33282962	G	C	18	35702998	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00185627655420507	0.27
18	33282962	G	T	18	35702998	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0154598651822067	0.408
18	33282963	A	C	18	35702999	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.267528814140273	0.514
18	33282963	A	G	18	35702999	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.836339410730229	0.572
18	33282963	A	T	18	35702999	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.620200673789569	0.628
18	33282964	G	A	18	35703000	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999871259346933	0.916
18	33282964	G	C	18	35703000	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.998351240862963	0.854
18	33282964	G	T	18	35703000	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999596862718359	0.868
18	33282965	T	A	18	35703001	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.622258705063418	0.59
18	33282965	T	C	18	35703001	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.575355517317833	0.42
18	33282965	T	G	18	35703001	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.343192780980193	0.29
18	33282966	A	C	18	35703002	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.07902708129146E-4	0.002
18	33282966	A	G	18	35703002	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.07902708129146E-4	0.002
18	33282966	A	T	18	35703002	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.96987804535067E-5	0.002
18	33282967	T	A	18	35703003	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.91675664413849E-5	0.004
18	33282967	T	C	18	35703003	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.86010840910668E-5	0.006
18	33282967	T	G	18	35703003	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.82139635789385E-5	0.014
18	33283461	T	A	18	35703497	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00491406518479377	0.3
18	33283461	T	C	18	35703497	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.31163094896425E-4	0.03
18	33283461	T	G	18	35703497	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0116854354603666	0.3
18	33283462	T	A	18	35703498	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.980347033218493	0.79
18	33283462	T	C	18	35703498	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0322095738731143	0.156
18	33283462	T	G	18	35703498	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.54484905444731	0.576
18	33283463	T	A	18	35703499	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.354203408842912	0.574
18	33283463	T	C	18	35703499	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.79532293267686E-4	0.016
18	33283463	T	G	18	35703499	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.352091992770481	0.556
18	33283464	T	A	18	35703500	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.019993286060306	0.416
18	33283464	T	C	18	35703500	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.25039385356077E-4	0.014
18	33283464	T	G	18	35703500	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0809180538977872	0.41
18	33283465	A	C	18	35703501	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.75351380398327E-5	0.0
18	33283465	A	G	18	35703501	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.41660416073757E-5	0.0
18	33283465	A	T	18	35703501	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.73744602368935E-5	0.0
18	33283466	T	A	18	35703502	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0422255711536854	0.314
18	33283466	T	C	18	35703502	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.81188509480426E-5	0.0
18	33283466	T	G	18	35703502	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999176892249789	0.978
18	33283467	T	A	18	35703503	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.55973893546602	0.606
18	33283467	T	C	18	35703503	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.86316451647917E-4	0.0
18	33283467	T	G	18	35703503	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.491904789909258	0.738
18	33283468	T	A	18	35703504	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.624011347522924	0.41
18	33283468	T	C	18	35703504	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.80223823944858E-4	0.032
18	33283468	T	G	18	35703504	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.613073414562917	0.386
18	33283469	C	A	18	35703505	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.2461150636194E-5	0.004
18	33283469	C	G	18	35703505	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.74187744091375E-5	0.004
18	33283469	C	T	18	35703505	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.22940106047891E-5	0.014
18	33283470	C	A	18	35703506	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.292142337418653	0.33
18	33283470	C	G	18	35703506	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.984733960237865	0.786
18	33283470	C	T	18	35703506	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00138000498891127	0.082
18	33283471	A	C	18	35703507	y	y	splicing	GALNT1(NM_020474:exon10:c.1399-2A>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1384-2A>C;ENST00000269195:exon10:c.1399-2A>C;ENST00000537549:exon11:c.1219-2A>C;ENST00000590654:exon11:c.1472-2A>C)	.	.	0.999988247793601	0.93
18	33283471	A	G	18	35703507	y	y	splicing	GALNT1(NM_020474:exon10:c.1399-2A>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1384-2A>G;ENST00000269195:exon10:c.1399-2A>G;ENST00000537549:exon11:c.1219-2A>G;ENST00000590654:exon11:c.1472-2A>G)	.	.	0.999988247793601	0.93
18	33283471	A	T	18	35703507	y	y	splicing	GALNT1(NM_020474:exon10:c.1399-2A>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1384-2A>T;ENST00000269195:exon10:c.1399-2A>T;ENST00000537549:exon11:c.1219-2A>T;ENST00000590654:exon11:c.1472-2A>T)	.	.	0.999988247793601	0.93
18	33283472	G	A	18	35703508	y	y	splicing	GALNT1(NM_020474:exon10:c.1399-1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1384-1G>A;ENST00000269195:exon10:c.1399-1G>A;ENST00000537549:exon11:c.1219-1G>A;ENST00000590654:exon11:c.1472-1G>A)	.	.	0.999990361384395	0.938
18	33283472	G	C	18	35703508	y	y	splicing	GALNT1(NM_020474:exon10:c.1399-1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1384-1G>C;ENST00000269195:exon10:c.1399-1G>C;ENST00000537549:exon11:c.1219-1G>C;ENST00000590654:exon11:c.1472-1G>C)	.	.	0.999990361384395	0.938
18	33283472	G	T	18	35703508	y	y	splicing	GALNT1(NM_020474:exon10:c.1399-1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1384-1G>T;ENST00000269195:exon10:c.1399-1G>T;ENST00000537549:exon11:c.1219-1G>T;ENST00000590654:exon11:c.1472-1G>T)	.	.	0.999990361384395	0.938
18	33283473	G	A	18	35703509	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.G1399A:p.V467I;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1219A:p.V407I;ENSG00000141429:ENST00000269195:exon10:c.G1399A:p.V467I;	0.998693498411255	0.822
18	33283473	G	C	18	35703509	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.G1399C:p.V467L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1219C:p.V407L;ENSG00000141429:ENST00000269195:exon10:c.G1399C:p.V467L;	0.999565779634274	0.974
18	33283473	G	T	18	35703509	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.G1399T:p.V467F;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1219T:p.V407F;ENSG00000141429:ENST00000269195:exon10:c.G1399T:p.V467F;	0.99958139328077	0.978
18	33283474	T	A	18	35703510	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.T1400A:p.V467D;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.T1220A:p.V407D;ENSG00000141429:ENST00000269195:exon10:c.T1400A:p.V467D;	0.00495014429254428	0.136
18	33283474	T	C	18	35703510	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.T1400C:p.V467A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.T1220C:p.V407A;ENSG00000141429:ENST00000269195:exon10:c.T1400C:p.V467A;	0.00674139690551601	0.148
18	33283474	T	G	18	35703510	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.T1400G:p.V467G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.T1220G:p.V407G;ENSG00000141429:ENST00000269195:exon10:c.T1400G:p.V467G;	0.00661903242359511	0.112
18	33283605	G	A	18	35703641	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.G1531A:p.V511M;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1351A:p.V451M;ENSG00000141429:ENST00000269195:exon10:c.G1531A:p.V511M;	0.0341651426986432	0.272
18	33283605	G	C	18	35703641	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.G1531C:p.V511L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1351C:p.V451L;ENSG00000141429:ENST00000269195:exon10:c.G1531C:p.V511L;	0.0151761444593061	0.186
18	33283605	G	T	18	35703641	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.G1531T:p.V511L;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1351T:p.V451L;ENSG00000141429:ENST00000269195:exon10:c.G1531T:p.V511L;	0.054463610790885	0.312
18	33283606	T	A	18	35703642	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.T1532A:p.V511E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.T1352A:p.V451E;ENSG00000141429:ENST00000269195:exon10:c.T1532A:p.V511E;	0.00115256956653672	0.074
18	33283606	T	C	18	35703642	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.T1532C:p.V511A;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.T1352C:p.V451A;ENSG00000141429:ENST00000269195:exon10:c.T1532C:p.V511A;	0.0167338017534595	0.118
18	33283606	T	G	18	35703642	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon10:c.T1532G:p.V511G;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.T1352G:p.V451G;ENSG00000141429:ENST00000269195:exon10:c.T1532G:p.V511G;	0.0459341052202183	0.214
18	33283607	G	A	18	35703643	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon10:c.G1533A:p.V511V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1353A:p.V451V;ENSG00000141429:ENST00000269195:exon10:c.G1533A:p.V511V;	0.999851203057315	0.966
18	33283607	G	C	18	35703643	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon10:c.G1533C:p.V511V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1353C:p.V451V;ENSG00000141429:ENST00000269195:exon10:c.G1533C:p.V511V;	0.999743702088147	0.962
18	33283607	G	T	18	35703643	y	y	exonic	GALNT1	synonymous SNV	GALNT1:NM_020474:exon10:c.G1533T:p.V511V;	exonic	ENSG00000141429	synonymous SNV	ENSG00000141429:ENST00000537549:exon11:c.G1353T:p.V451V;ENSG00000141429:ENST00000269195:exon10:c.G1533T:p.V511V;	0.999156166371296	0.968
18	33283608	G	A	18	35703644	y	y	splicing	GALNT1(NM_020474:exon10:c.1533+1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1518+1G>A;ENST00000269195:exon10:c.1533+1G>A;ENST00000537549:exon11:c.1353+1G>A;ENST00000590654:exon11:c.1606+1G>A)	.	.	0.999989072007339	0.934
18	33283608	G	C	18	35703644	y	y	splicing	GALNT1(NM_020474:exon10:c.1533+1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1518+1G>C;ENST00000269195:exon10:c.1533+1G>C;ENST00000537549:exon11:c.1353+1G>C;ENST00000590654:exon11:c.1606+1G>C)	.	.	0.999989072007339	0.934
18	33283608	G	T	18	35703644	y	y	splicing	GALNT1(NM_020474:exon10:c.1533+1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1518+1G>T;ENST00000269195:exon10:c.1533+1G>T;ENST00000537549:exon11:c.1353+1G>T;ENST00000590654:exon11:c.1606+1G>T)	.	.	0.999989072007339	0.934
18	33283609	T	A	18	35703645	y	y	splicing	GALNT1(NM_020474:exon10:c.1533+2T>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1518+2T>A;ENST00000269195:exon10:c.1533+2T>A;ENST00000537549:exon11:c.1353+2T>A;ENST00000590654:exon11:c.1606+2T>A)	.	.	0.999988247793601	0.93
18	33283609	T	C	18	35703645	y	y	splicing	GALNT1(NM_020474:exon10:c.1533+2T>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1518+2T>C;ENST00000269195:exon10:c.1533+2T>C;ENST00000537549:exon11:c.1353+2T>C;ENST00000590654:exon11:c.1606+2T>C)	.	.	0.994669226766359	0.68
18	33283609	T	G	18	35703645	y	y	splicing	GALNT1(NM_020474:exon10:c.1533+2T>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon10:c.1518+2T>G;ENST00000269195:exon10:c.1533+2T>G;ENST00000537549:exon11:c.1353+2T>G;ENST00000590654:exon11:c.1606+2T>G)	.	.	0.999988247793601	0.93
18	33283610	A	C	18	35703646	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.996066454382006	0.932
18	33283610	A	G	18	35703646	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00500196121001095	0.182
18	33283610	A	T	18	35703646	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.996265079812071	0.86
18	33283611	A	C	18	35703647	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.68166983542096	0.326
18	33283611	A	G	18	35703647	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.880215832226265	0.584
18	33283611	A	T	18	35703647	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.77030917375067	0.494
18	33283612	G	A	18	35703648	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.99972822172903	0.888
18	33283612	G	C	18	35703648	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999326379263341	0.9
18	33283612	G	T	18	35703648	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999428070114365	0.8
18	33283613	T	A	18	35703649	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.74582394768439	0.576
18	33283613	T	C	18	35703649	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.508361459507521	0.594
18	33283613	T	G	18	35703649	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.369564967715203	0.452
18	33283614	T	A	18	35703650	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.35931931987447E-4	0.002
18	33283614	T	C	18	35703650	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.43940908248419E-5	0.0
18	33283614	T	G	18	35703650	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	9.66122568896318E-5	0.0
18	33283615	A	C	18	35703651	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.98211163296563E-4	0.002
18	33283615	A	G	18	35703651	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.06578374543387E-4	0.002
18	33283615	A	T	18	35703651	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00110336656407202	0.004
18	33289576	T	A	18	35709612	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	6.75008902558198E-4	0.088
18	33289576	T	C	18	35709612	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.59001307502313E-5	0.008
18	33289576	T	G	18	35709612	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.00332534039925E-4	0.052
18	33289577	T	A	18	35709613	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00143535792812424	0.102
18	33289577	T	C	18	35709613	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	8.53705179324363E-5	0.014
18	33289577	T	G	18	35709613	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.81124517683338E-4	0.17
18	33289578	T	A	18	35709614	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00247506211131946	0.13
18	33289578	T	C	18	35709614	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.51424491177765E-4	0.026
18	33289578	T	G	18	35709614	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00187795254231823	0.12
18	33289579	C	A	18	35709615	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	4.07418499295578E-4	0.072
18	33289579	C	G	18	35709615	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.97323933011868E-4	0.016
18	33289579	C	T	18	35709615	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	5.54198841824174E-5	0.056
18	33289580	T	A	18	35709616	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0103538957806044	0.11
18	33289580	T	C	18	35709616	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	3.57933331965096E-4	0.034
18	33289580	T	G	18	35709616	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00182123226619203	0.132
18	33289581	A	C	18	35709617	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.82921115014725E-5	0.0
18	33289581	A	G	18	35709617	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	2.13120986917194E-5	0.0
18	33289581	A	T	18	35709617	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.82921115014725E-5	0.0
18	33289582	T	A	18	35709618	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0615605261909733	0.23
18	33289582	T	C	18	35709618	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0019925422568861	0.076
18	33289582	T	G	18	35709618	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999950093644408	0.972
18	33289583	T	A	18	35709619	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00420590471561482	0.198
18	33289583	T	C	18	35709619	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	7.43460146323418E-4	0.076
18	33289583	T	G	18	35709619	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.00801619565758159	0.23
18	33289584	T	A	18	35709620	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.98603603235871E-4	0.006
18	33289584	T	C	18	35709620	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.48718409915975E-4	0.006
18	33289584	T	G	18	35709620	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	1.37624971820458E-4	0.004
18	33289585	C	A	18	35709621	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.995262075024327	0.682
18	33289585	C	G	18	35709621	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.999368839235542	0.916
18	33289585	C	T	18	35709621	y	y	intronic	GALNT1	.	.	intronic	ENSG00000141429	.	.	0.0191733343996565	0.198
18	33289586	A	C	18	35709622	y	y	splicing	GALNT1(NM_020474:exon11:c.1534-2A>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon11:c.1519-2A>C;ENST00000269195:exon11:c.1534-2A>C;ENST00000537549:exon12:c.1354-2A>C;ENST00000590654:exon12:c.1607-2A>C)	.	.	0.998546023726818	0.64
18	33289586	A	G	18	35709622	y	y	splicing	GALNT1(NM_020474:exon11:c.1534-2A>G)	.	.	splicing	ENSG00000141429(ENST00000589189:exon11:c.1519-2A>G;ENST00000269195:exon11:c.1534-2A>G;ENST00000537549:exon12:c.1354-2A>G;ENST00000590654:exon12:c.1607-2A>G)	.	.	0.998546023726818	0.64
18	33289586	A	T	18	35709622	y	y	splicing	GALNT1(NM_020474:exon11:c.1534-2A>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon11:c.1519-2A>T;ENST00000269195:exon11:c.1534-2A>T;ENST00000537549:exon12:c.1354-2A>T;ENST00000590654:exon12:c.1607-2A>T)	.	.	0.998546023726818	0.652
18	33289587	G	A	18	35709623	y	y	splicing	GALNT1(NM_020474:exon11:c.1534-1G>A)	.	.	splicing	ENSG00000141429(ENST00000589189:exon11:c.1519-1G>A;ENST00000269195:exon11:c.1534-1G>A;ENST00000537549:exon12:c.1354-1G>A;ENST00000590654:exon12:c.1607-1G>A)	.	.	0.999901903252463	0.86
18	33289587	G	C	18	35709623	y	y	splicing	GALNT1(NM_020474:exon11:c.1534-1G>C)	.	.	splicing	ENSG00000141429(ENST00000589189:exon11:c.1519-1G>C;ENST00000269195:exon11:c.1534-1G>C;ENST00000537549:exon12:c.1354-1G>C;ENST00000590654:exon12:c.1607-1G>C)	.	.	0.99986759938962	0.848
18	33289587	G	T	18	35709623	y	y	splicing	GALNT1(NM_020474:exon11:c.1534-1G>T)	.	.	splicing	ENSG00000141429(ENST00000589189:exon11:c.1519-1G>T;ENST00000269195:exon11:c.1534-1G>T;ENST00000537549:exon12:c.1354-1G>T;ENST00000590654:exon12:c.1607-1G>T)	.	.	0.999880083407687	0.834
18	33289588	A	C	18	35709624	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon11:c.A1534C:p.K512Q;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon12:c.A1354C:p.K452Q;ENSG00000141429:ENST00000269195:exon11:c.A1534C:p.K512Q;	7.1069367023299E-5	0.024
18	33289588	A	G	18	35709624	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon11:c.A1534G:p.K512E;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon12:c.A1354G:p.K452E;ENSG00000141429:ENST00000269195:exon11:c.A1534G:p.K512E;	1.71960409142485E-5	0.012
18	33289588	A	T	18	35709624	y	y	exonic	GALNT1	stopgain SNV	GALNT1:NM_020474:exon11:c.A1534T:p.K512X;	exonic	ENSG00000141429	stopgain SNV	ENSG00000141429:ENST00000537549:exon12:c.A1354T:p.K452X;ENSG00000141429:ENST00000269195:exon11:c.A1534T:p.K512X;	0.0125916961750783	0.176
18	33289589	A	C	18	35709625	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon11:c.A1535C:p.K512T;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon12:c.A1355C:p.K452T;ENSG00000141429:ENST00000269195:exon11:c.A1535C:p.K512T;	2.03959536714823E-4	0.058
18	33289589	A	G	18	35709625	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon11:c.A1535G:p.K512R;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon12:c.A1355G:p.K452R;ENSG00000141429:ENST00000269195:exon11:c.A1535G:p.K512R;	6.63561237000079E-4	0.016
18	33289589	A	T	18	35709625	y	y	exonic	GALNT1	nonsynonymous SNV	GALNT1:NM_020474:exon11:c.A1535T:p.K512I;	exonic	ENSG00000141429	nonsynonymous SNV	ENSG00000141429:ENST00000537549:exon12:c.A1355T:p.K452I;ENSG00000141429:ENST00000269195:exon11:c.A1535T:p.K512I;	0.00310237998182307	0.02
18	33552766	C	A	18	35972803	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon1:c.C75A:p.L25L;C18orf21:NM_001201476:exon1:c.C75A:p.L25L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.C75A:p.L25L;	1.11900857404607E-4	0.04
18	33552766	C	G	18	35972803	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon1:c.C75G:p.L25L;C18orf21:NM_001201476:exon1:c.C75G:p.L25L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.C75G:p.L25L;	0.00119301845247136	0.132
18	33552766	C	T	18	35972803	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon1:c.C75T:p.L25L;C18orf21:NM_001201476:exon1:c.C75T:p.L25L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.C75T:p.L25L;	0.0104143170455913	0.214
18	33552767	C	A	18	35972804	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon1:c.C76A:p.L26I;C18orf21:NM_001201476:exon1:c.C76A:p.L26I;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.C76A:p.L26I;	0.961588821838724	0.618
18	33552767	C	G	18	35972804	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon1:c.C76G:p.L26V;C18orf21:NM_001201476:exon1:c.C76G:p.L26V;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.C76G:p.L26V;	0.968632279919141	0.71
18	33552767	C	T	18	35972804	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon1:c.C76T:p.L26F;C18orf21:NM_001201476:exon1:c.C76T:p.L26F;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.C76T:p.L26F;	0.996170219728159	0.716
18	33552768	T	A	18	35972805	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon1:c.T77A:p.L26H;C18orf21:NM_001201476:exon1:c.T77A:p.L26H;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.T77A:p.L26H;	0.818726239936489	0.77
18	33552768	T	C	18	35972805	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon1:c.T77C:p.L26P;C18orf21:NM_001201476:exon1:c.T77C:p.L26P;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.T77C:p.L26P;	0.952066159006514	0.844
18	33552768	T	G	18	35972805	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon1:c.T77G:p.L26R;C18orf21:NM_001201476:exon1:c.T77G:p.L26R;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon1:c.T77G:p.L26R;	0.322307370458715	0.316
18	33552769	G	A	18	35972806	y	y	splicing	C18orf21(NM_001201476:exon1:c.77+1G>A;NM_031446:exon1:c.77+1G>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon1:c.77+1G>A)	.	.	0.999979023971766	0.956
18	33552769	G	C	18	35972806	y	y	splicing	C18orf21(NM_001201476:exon1:c.77+1G>C;NM_031446:exon1:c.77+1G>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon1:c.77+1G>C)	.	.	0.999979023971766	0.954
18	33552769	G	T	18	35972806	y	y	splicing	C18orf21(NM_001201476:exon1:c.77+1G>T;NM_031446:exon1:c.77+1G>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon1:c.77+1G>T)	.	.	0.999979023971766	0.956
18	33552770	T	A	18	35972807	y	y	splicing	C18orf21(NM_001201476:exon1:c.77+2T>A;NM_031446:exon1:c.77+2T>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon1:c.77+2T>A)	.	.	0.999989917668626	0.952
18	33552770	T	C	18	35972807	y	y	splicing	C18orf21(NM_001201476:exon1:c.77+2T>C;NM_031446:exon1:c.77+2T>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon1:c.77+2T>C)	.	.	0.999927265809569	0.912
18	33552770	T	G	18	35972807	y	y	splicing	C18orf21(NM_001201476:exon1:c.77+2T>G;NM_031446:exon1:c.77+2T>G)	.	.	splicing	ENSG00000141428(ENST00000592875:exon1:c.77+2T>G)	.	.	0.999989917668626	0.952
18	33552771	A	C	18	35972808	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999909537215332	0.962
18	33552771	A	G	18	35972808	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.991677255610034	0.686
18	33552771	A	T	18	35972808	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999908695423725	0.97
18	33552772	A	C	18	35972809	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999637682782963	0.822
18	33552772	A	G	18	35972809	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999767832814421	0.818
18	33552772	A	T	18	35972809	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999652100597414	0.77
18	33552773	G	A	18	35972810	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999940124335741	0.826
18	33552773	G	C	18	35972810	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999957044300798	0.828
18	33552773	G	T	18	35972810	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999940124335741	0.828
18	33552774	A	C	18	35972811	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.00121738033269875	0.138
18	33552774	A	G	18	35972811	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.78227752389695E-5	0.068
18	33552774	A	T	18	35972811	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	6.37333671715493E-5	0.072
18	33552775	G	A	18	35972812	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	2.14593392625791E-4	0.0
18	33552775	G	C	18	35972812	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	2.37238492386641E-4	0.0
18	33552775	G	T	18	35972812	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	2.67662871470966E-4	0.082
18	33552776	G	A	18	35972813	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	8.17637124582968E-4	0.06
18	33552776	G	C	18	35972813	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	3.4550514014091E-4	0.008
18	33552776	G	T	18	35972813	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	9.20834623062166E-5	0.0
18	33552801	C	A	18	35972838	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	6.96737020304725E-5	0.0
18	33552801	C	G	18	35972838	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	6.96737020304725E-5	0.0
18	33552801	C	T	18	35972838	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	6.96737020304725E-5	0.0
18	33552802	G	A	18	35972839	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	8.8551835119743E-4	0.01
18	33552802	G	C	18	35972839	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	6.5779928443876E-4	0.014
18	33552802	G	T	18	35972839	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	8.8551835119743E-4	0.01
18	33552803	G	A	18	35972840	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	3.43189514765741E-4	0.022
18	33552803	G	C	18	35972840	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	2.43933130591801E-4	0.018
18	33552803	G	T	18	35972840	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	3.43189514765741E-4	0.022
18	33552804	G	A	18	35972841	y	y	splicing	C18orf21	.	.	splicing	ENSG00000141428	.	.	5.69439264402225E-5	0.0
18	33552804	G	C	18	35972841	y	y	splicing	C18orf21	.	.	splicing	ENSG00000141428	.	.	5.69439264402225E-5	0.0
18	33552804	G	T	18	35972841	y	y	splicing	C18orf21	.	.	splicing	ENSG00000141428	.	.	5.69439264402225E-5	0.0
18	33552805	T	A	18	35972842	y	y	splicing	C18orf21	.	.	splicing	ENSG00000141428	.	.	4.21649339220785E-5	0.0
18	33552805	T	C	18	35972842	y	y	splicing	C18orf21	.	.	splicing	ENSG00000141428	.	.	4.21649339220785E-5	0.0
18	33552805	T	G	18	35972842	y	y	splicing	C18orf21	.	.	splicing	ENSG00000141428	.	.	4.21649339220785E-5	0.0
18	33552806	A	C	18	35972843	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.33596820440618E-5	0.0
18	33552806	A	G	18	35972843	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.33596820440618E-5	0.0
18	33552806	A	T	18	35972843	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.33596820440618E-5	0.0
18	33552807	G	A	18	35972844	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.46413180592529E-4	0.008
18	33552807	G	C	18	35972844	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.47645184142865E-5	0.012
18	33552807	G	T	18	35972844	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	9.75123824698313E-5	0.008
18	33552808	G	A	18	35972845	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.31043779912406E-4	0.012
18	33552808	G	C	18	35972845	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.8703588275862E-4	0.012
18	33552808	G	T	18	35972845	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.8703588275862E-4	0.01
18	33552809	T	A	18	35972846	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.91285012458584E-4	0.008
18	33552809	T	C	18	35972846	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	2.243298286616E-4	0.03
18	33552809	T	G	18	35972846	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	2.4775666424858E-4	0.064
18	33552810	G	A	18	35972847	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.00474437136189E-4	0.008
18	33552810	G	C	18	35972847	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.41567294599268E-4	0.012
18	33552810	G	T	18	35972847	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.8703588275862E-4	0.008
18	33552811	T	A	18	35972848	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.00796321454825E-4	0.0
18	33552811	T	C	18	35972848	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.01315188657279E-5	0.0
18	33552811	T	G	18	35972848	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.01315188657279E-5	0.0
18	33552836	T	A	18	35972873	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.80526528508803E-4	0.126
18	33552836	T	C	18	35972873	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.82892264969549E-4	0.012
18	33552836	T	G	18	35972873	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	5.33873398557563E-4	0.09
18	33552837	C	A	18	35972874	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	3.32320170097973E-4	0.046
18	33552837	C	G	18	35972874	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.50938664492635E-4	0.014
18	33552837	C	T	18	35972874	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	8.67321930006535E-5	0.008
18	33552838	T	A	18	35972875	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.696093747162678	0.464
18	33552838	T	C	18	35972875	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.159783761986152	0.326
18	33552838	T	G	18	35972875	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.407047034693669	0.424
18	33552839	C	A	18	35972876	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.00183659871661643	0.144
18	33552839	C	G	18	35972876	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.06786152628312E-4	0.022
18	33552839	C	T	18	35972876	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.59428215205018E-4	0.022
18	33552840	T	A	18	35972877	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.0139475737847071	0.088
18	33552840	T	C	18	35972877	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	5.26783735830876E-4	0.03
18	33552840	T	G	18	35972877	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.00370678929505701	0.042
18	33552841	T	A	18	35972878	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	5.5344512849394E-4	0.08
18	33552841	T	C	18	35972878	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	8.32956719602346E-5	0.006
18	33552841	T	G	18	35972878	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	8.05088241452491E-4	0.058
18	33552842	T	A	18	35972879	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.278870925947342	0.386
18	33552842	T	C	18	35972879	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.0274100520058273	0.344
18	33552842	T	G	18	35972879	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.196176763436194	0.364
18	33552843	T	A	18	35972880	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.00635178690122279	0.128
18	33552843	T	C	18	35972880	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	7.27330407292837E-4	0.03
18	33552843	T	G	18	35972880	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.0176483877497343	0.154
18	33552844	A	C	18	35972881	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	1.98909597820511E-4	0.04
18	33552844	A	G	18	35972881	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	3.02519217964972E-4	0.04
18	33552844	A	T	18	35972881	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	4.57914862955903E-4	0.052
18	33552845	C	A	18	35972882	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.897701794197486	0.622
18	33552845	C	G	18	35972882	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.999614732616195	0.966
18	33552845	C	T	18	35972882	y	y	UTR5	C18orf21	.	.	UTR5	ENSG00000141428	.	.	0.0586535013237076	0.194
18	33552846	A	C	18	35972883	y	y	splicing	C18orf21(NM_001201476:exon2:c.78-2A>C;NM_031446:exon2:c.78-2A>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.78-2A>C)	.	.	0.999966203349492	0.944
18	33552846	A	G	18	35972883	y	y	splicing	C18orf21(NM_001201476:exon2:c.78-2A>G;NM_031446:exon2:c.78-2A>G)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.78-2A>G)	.	.	0.999966203349492	0.944
18	33552846	A	T	18	35972883	y	y	splicing	C18orf21(NM_001201476:exon2:c.78-2A>T;NM_031446:exon2:c.78-2A>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.78-2A>T)	.	.	0.999966203349492	0.94
18	33552847	G	A	18	35972884	y	y	splicing	C18orf21(NM_001201476:exon2:c.78-1G>A;NM_031446:exon2:c.78-1G>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.78-1G>A)	.	.	0.999915710762489	0.952
18	33552847	G	C	18	35972884	y	y	splicing	C18orf21(NM_001201476:exon2:c.78-1G>C;NM_031446:exon2:c.78-1G>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.78-1G>C)	.	.	0.999916487880886	0.952
18	33552847	G	T	18	35972884	y	y	splicing	C18orf21(NM_001201476:exon2:c.78-1G>T;NM_031446:exon2:c.78-1G>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.78-1G>T)	.	.	0.999916487880886	0.946
18	33552848	C	A	18	35972885	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon2:c.C78A:p.L26L;C18orf21:NM_001201476:exon2:c.C78A:p.L26L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.C78A:p.L26L;	3.21976578731464E-5	0.0
18	33552848	C	G	18	35972885	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon2:c.C78G:p.L26L;C18orf21:NM_001201476:exon2:c.C78G:p.L26L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.C78G:p.L26L;	3.02715870620356E-5	0.128
18	33552848	C	T	18	35972885	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon2:c.C78T:p.L26L;C18orf21:NM_001201476:exon2:c.C78T:p.L26L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.C78T:p.L26L;	1.05711202168604E-4	0.016
18	33552849	T	A	18	35972886	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.T79A:p.W27R;C18orf21:NM_001201476:exon2:c.T79A:p.W27R;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.T79A:p.W27R;	0.00751231928784383	0.124
18	33552849	T	C	18	35972886	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.T79C:p.W27R;C18orf21:NM_001201476:exon2:c.T79C:p.W27R;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.T79C:p.W27R;	0.00912580295777717	0.106
18	33552849	T	G	18	35972886	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.T79G:p.W27G;C18orf21:NM_001201476:exon2:c.T79G:p.W27G;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.T79G:p.W27G;	0.139367375022799	0.408
18	33552868	A	C	18	35972905	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.A98C:p.H33P;C18orf21:NM_001201476:exon2:c.A98C:p.H33P;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.A98C:p.H33P;	0.0196414072167119	0.236
18	33552868	A	G	18	35972905	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.A98G:p.H33R;C18orf21:NM_001201476:exon2:c.A98G:p.H33R;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.A98G:p.H33R;	4.85747943642327E-4	0.064
18	33552868	A	T	18	35972905	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.A98T:p.H33L;C18orf21:NM_001201476:exon2:c.A98T:p.H33L;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.A98T:p.H33L;	0.0116261304925763	0.122
18	33552869	C	A	18	35972906	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.C99A:p.H33Q;C18orf21:NM_001201476:exon2:c.C99A:p.H33Q;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.C99A:p.H33Q;	1.94120837988783E-4	0.126
18	33552869	C	G	18	35972906	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.C99G:p.H33Q;C18orf21:NM_001201476:exon2:c.C99G:p.H33Q;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.C99G:p.H33Q;	1.04342217246681E-4	0.052
18	33552869	C	T	18	35972906	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon2:c.C99T:p.H33H;C18orf21:NM_001201476:exon2:c.C99T:p.H33H;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.C99T:p.H33H;	1.29511499721659E-4	0.05
18	33552870	G	A	18	35972907	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.G100A:p.D34N;C18orf21:NM_001201476:exon2:c.G100A:p.D34N;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.G100A:p.D34N;	0.998723565647848	0.958
18	33552870	G	C	18	35972907	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.G100C:p.D34H;C18orf21:NM_001201476:exon2:c.G100C:p.D34H;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.G100C:p.D34H;	0.999970157299007	0.966
18	33552870	G	T	18	35972907	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon2:c.G100T:p.D34Y;C18orf21:NM_001201476:exon2:c.G100T:p.D34Y;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon2:c.G100T:p.D34Y;	0.999937427414786	0.896
18	33552871	G	A	18	35972908	y	y	splicing	C18orf21(NM_001201476:exon2:c.100+1G>A;NM_031446:exon2:c.100+1G>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.100+1G>A)	.	.	0.999952286258862	0.864
18	33552871	G	C	18	35972908	y	y	splicing	C18orf21(NM_001201476:exon2:c.100+1G>C;NM_031446:exon2:c.100+1G>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.100+1G>C)	.	.	0.999942513266374	0.842
18	33552871	G	T	18	35972908	y	y	splicing	C18orf21(NM_001201476:exon2:c.100+1G>T;NM_031446:exon2:c.100+1G>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.100+1G>T)	.	.	0.999942513266374	0.862
18	33552872	T	A	18	35972909	y	y	splicing	C18orf21(NM_001201476:exon2:c.100+2T>A;NM_031446:exon2:c.100+2T>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.100+2T>A)	.	.	0.999969255906173	0.858
18	33552872	T	C	18	35972909	y	y	splicing	C18orf21(NM_001201476:exon2:c.100+2T>C;NM_031446:exon2:c.100+2T>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.100+2T>C)	.	.	0.998828960818383	0.824
18	33552872	T	G	18	35972909	y	y	splicing	C18orf21(NM_001201476:exon2:c.100+2T>G;NM_031446:exon2:c.100+2T>G)	.	.	splicing	ENSG00000141428(ENST00000592875:exon2:c.100+2T>G)	.	.	0.999962958601995	0.838
18	33552873	A	C	18	35972910	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.9893984340654	0.846
18	33552873	A	G	18	35972910	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0374649164789722	0.254
18	33552873	A	T	18	35972910	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.987471978230472	0.792
18	33552874	A	C	18	35972911	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.110769411175139	0.224
18	33552874	A	G	18	35972911	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0114355151732416	0.176
18	33552874	A	T	18	35972911	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0261896656764951	0.174
18	33552875	G	A	18	35972912	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.998251347153731	0.838
18	33552875	G	C	18	35972912	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999356940493099	0.92
18	33552875	G	T	18	35972912	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.998603690835847	0.806
18	33552876	A	C	18	35972913	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	6.28015601512496E-5	0.012
18	33552876	A	G	18	35972913	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.63379966941639E-5	0.0
18	33552876	A	T	18	35972913	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.28566457679748E-5	0.0
18	33552877	A	C	18	35972914	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00134022327080876	0.044
18	33552877	A	G	18	35972914	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.38801286061798E-4	0.004
18	33552877	A	T	18	35972914	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	7.70373002829532E-4	0.006
18	33552878	G	A	18	35972915	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	6.36567682305367E-5	0.002
18	33552878	G	C	18	35972915	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	6.21951956042082E-5	0.0
18	33552878	G	T	18	35972915	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	6.36567682305367E-5	0.0
18	33554847	G	A	18	35974884	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.48527424184547E-4	0.136
18	33554847	G	C	18	35974884	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	9.88592278409319E-5	0.236
18	33554847	G	T	18	35974884	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	8.48504584534899E-5	0.284
18	33554848	T	A	18	35974885	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999526076186612	0.954
18	33554848	T	C	18	35974885	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.951720517414627	0.63
18	33554848	T	G	18	35974885	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.998805514480515	0.966
18	33554849	A	C	18	35974886	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.48836703026317E-5	0.136
18	33554849	A	G	18	35974886	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.40811429126032E-4	0.05
18	33554849	A	T	18	35974886	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.48836703026317E-5	0.266
18	33554850	T	A	18	35974887	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.998190820704573	0.846
18	33554850	T	C	18	35974887	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.219466281531114	0.35
18	33554850	T	G	18	35974887	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999989412178159	0.97
18	33554851	A	C	18	35974888	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0010829508792387	0.064
18	33554851	A	G	18	35974888	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00513612074831443	0.038
18	33554851	A	T	18	35974888	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0010829508792387	0.05
18	33554852	A	C	18	35974889	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.63551914534624E-4	0.026
18	33554852	A	G	18	35974889	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.997809586854261	0.942
18	33554852	A	T	18	35974889	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.45043897948867E-4	0.016
18	33554853	T	A	18	35974890	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.914782226715391	0.77
18	33554853	T	C	18	35974890	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00172200843721051	0.1
18	33554853	T	G	18	35974890	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999960961823882	0.966
18	33554854	T	A	18	35974891	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.973176847215536	0.858
18	33554854	T	C	18	35974891	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.040261195420206	0.242
18	33554854	T	G	18	35974891	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.960784781908221	0.842
18	33554855	T	A	18	35974892	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00418447113186874	0.052
18	33554855	T	C	18	35974892	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.22329473393843E-4	0.052
18	33554855	T	G	18	35974892	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00144426410444618	0.064
18	33554856	T	A	18	35974893	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.568492578419556	0.454
18	33554856	T	C	18	35974893	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.80733372691602E-5	0.0
18	33554856	T	G	18	35974893	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.975528035637948	0.748
18	33554857	A	C	18	35974894	y	y	splicing	C18orf21(NM_001201476:exon3:c.101-2A>C;NM_031446:exon3:c.101-2A>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.101-2A>C)	.	.	0.999993143195943	0.934
18	33554857	A	G	18	35974894	y	y	splicing	C18orf21(NM_001201476:exon3:c.101-2A>G;NM_031446:exon3:c.101-2A>G)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.101-2A>G)	.	.	0.999993143195943	0.934
18	33554857	A	T	18	35974894	y	y	splicing	C18orf21(NM_001201476:exon3:c.101-2A>T;NM_031446:exon3:c.101-2A>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.101-2A>T)	.	.	0.999993143195943	0.934
18	33554858	G	A	18	35974895	y	y	splicing	C18orf21(NM_001201476:exon3:c.101-1G>A;NM_031446:exon3:c.101-1G>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.101-1G>A)	.	.	0.999990938371702	0.918
18	33554858	G	C	18	35974895	y	y	splicing	C18orf21(NM_001201476:exon3:c.101-1G>C;NM_031446:exon3:c.101-1G>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.101-1G>C)	.	.	0.999990938371702	0.926
18	33554858	G	T	18	35974895	y	y	splicing	C18orf21(NM_001201476:exon3:c.101-1G>T;NM_031446:exon3:c.101-1G>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.101-1G>T)	.	.	0.999990938371702	0.926
18	33554859	A	C	18	35974896	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.A101C:p.D34A;C18orf21:NM_001201476:exon3:c.A101C:p.D34A;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon3:c.A101C:p.D34A;	0.00199181259698971	0.144
18	33554859	A	G	18	35974896	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.A101G:p.D34G;C18orf21:NM_001201476:exon3:c.A101G:p.D34G;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon3:c.A101G:p.D34G;	8.27560352770965E-4	0.084
18	33554859	A	T	18	35974896	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.A101T:p.D34V;C18orf21:NM_001201476:exon3:c.A101T:p.D34V;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon3:c.A101T:p.D34V;	0.0410013918994671	0.23
18	33554860	T	A	18	35974897	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.T102A:p.D34E;C18orf21:NM_001201476:exon3:c.T102A:p.D34E;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon3:c.T102A:p.D34E;	0.0014709278198049	0.1
18	33554860	T	C	18	35974897	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon3:c.T102C:p.D34D;C18orf21:NM_001201476:exon3:c.T102C:p.D34D;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000592875:exon3:c.T102C:p.D34D;	0.00741413622673733	0.106
18	33554860	T	G	18	35974897	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.T102G:p.D34E;C18orf21:NM_001201476:exon3:c.T102G:p.D34E;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000592875:exon3:c.T102G:p.D34E;	0.00104223336087616	0.106
18	33555056	T	A	18	35975093	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.T298A:p.L100M;C18orf21:NM_001201475:exon2:c.T34A:p.L12M;C18orf21:NM_001201476:exon3:c.T298A:p.L100M;C18orf21:NM_001201474:exon2:c.T34A:p.L12M;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon2:c.T34A:p.L12M;ENSG00000141428:ENST00000592875:exon3:c.T298A:p.L100M;ENSG00000141428:ENST00000587873:exon2:c.T34A:p.L12M;ENSG00000141428:ENST00000333234:exon2:c.T34A:p.L12M;	1.27163106017613E-4	0.23
18	33555056	T	C	18	35975093	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon3:c.T298C:p.L100L;C18orf21:NM_001201475:exon2:c.T34C:p.L12L;C18orf21:NM_001201476:exon3:c.T298C:p.L100L;C18orf21:NM_001201474:exon2:c.T34C:p.L12L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000269194:exon2:c.T34C:p.L12L;ENSG00000141428:ENST00000592875:exon3:c.T298C:p.L100L;ENSG00000141428:ENST00000587873:exon2:c.T34C:p.L12L;ENSG00000141428:ENST00000333234:exon2:c.T34C:p.L12L;	5.82115603612096E-5	0.0
18	33555056	T	G	18	35975093	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.T298G:p.L100V;C18orf21:NM_001201475:exon2:c.T34G:p.L12V;C18orf21:NM_001201476:exon3:c.T298G:p.L100V;C18orf21:NM_001201474:exon2:c.T34G:p.L12V;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon2:c.T34G:p.L12V;ENSG00000141428:ENST00000592875:exon3:c.T298G:p.L100V;ENSG00000141428:ENST00000587873:exon2:c.T34G:p.L12V;ENSG00000141428:ENST00000333234:exon2:c.T34G:p.L12V;	2.23769600404199E-4	0.242
18	33555057	T	A	18	35975094	y	y	exonic	C18orf21	stopgain SNV	C18orf21:NM_031446:exon3:c.T299A:p.L100X;C18orf21:NM_001201475:exon2:c.T35A:p.L12X;C18orf21:NM_001201476:exon3:c.T299A:p.L100X;C18orf21:NM_001201474:exon2:c.T35A:p.L12X;	exonic	ENSG00000141428	stopgain SNV	ENSG00000141428:ENST00000269194:exon2:c.T35A:p.L12X;ENSG00000141428:ENST00000592875:exon3:c.T299A:p.L100X;ENSG00000141428:ENST00000587873:exon2:c.T35A:p.L12X;ENSG00000141428:ENST00000333234:exon2:c.T35A:p.L12X;	0.746907466967948	0.708
18	33555057	T	C	18	35975094	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.T299C:p.L100S;C18orf21:NM_001201475:exon2:c.T35C:p.L12S;C18orf21:NM_001201476:exon3:c.T299C:p.L100S;C18orf21:NM_001201474:exon2:c.T35C:p.L12S;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon2:c.T35C:p.L12S;ENSG00000141428:ENST00000592875:exon3:c.T299C:p.L100S;ENSG00000141428:ENST00000587873:exon2:c.T35C:p.L12S;ENSG00000141428:ENST00000333234:exon2:c.T35C:p.L12S;	0.954773319124488	0.894
18	33555057	T	G	18	35975094	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.T299G:p.L100W;C18orf21:NM_001201475:exon2:c.T35G:p.L12W;C18orf21:NM_001201476:exon3:c.T299G:p.L100W;C18orf21:NM_001201474:exon2:c.T35G:p.L12W;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon2:c.T35G:p.L12W;ENSG00000141428:ENST00000592875:exon3:c.T299G:p.L100W;ENSG00000141428:ENST00000587873:exon2:c.T35G:p.L12W;ENSG00000141428:ENST00000333234:exon2:c.T35G:p.L12W;	0.750379268292007	0.718
18	33555058	G	A	18	35975095	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon3:c.G300A:p.L100L;C18orf21:NM_001201475:exon2:c.G36A:p.L12L;C18orf21:NM_001201476:exon3:c.G300A:p.L100L;C18orf21:NM_001201474:exon2:c.G36A:p.L12L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000269194:exon2:c.G36A:p.L12L;ENSG00000141428:ENST00000592875:exon3:c.G300A:p.L100L;ENSG00000141428:ENST00000587873:exon2:c.G36A:p.L12L;ENSG00000141428:ENST00000333234:exon2:c.G36A:p.L12L;	0.999749898830771	0.998
18	33555058	G	C	18	35975095	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.G300C:p.L100F;C18orf21:NM_001201475:exon2:c.G36C:p.L12F;C18orf21:NM_001201476:exon3:c.G300C:p.L100F;C18orf21:NM_001201474:exon2:c.G36C:p.L12F;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon2:c.G36C:p.L12F;ENSG00000141428:ENST00000592875:exon3:c.G300C:p.L100F;ENSG00000141428:ENST00000587873:exon2:c.G36C:p.L12F;ENSG00000141428:ENST00000333234:exon2:c.G36C:p.L12F;	0.999991457337592	0.994
18	33555058	G	T	18	35975095	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon3:c.G300T:p.L100F;C18orf21:NM_001201475:exon2:c.G36T:p.L12F;C18orf21:NM_001201476:exon3:c.G300T:p.L100F;C18orf21:NM_001201474:exon2:c.G36T:p.L12F;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon2:c.G36T:p.L12F;ENSG00000141428:ENST00000592875:exon3:c.G300T:p.L100F;ENSG00000141428:ENST00000587873:exon2:c.G36T:p.L12F;ENSG00000141428:ENST00000333234:exon2:c.G36T:p.L12F;	0.99998233077675	0.98
18	33555059	G	A	18	35975096	y	y	splicing	C18orf21(NM_001201476:exon3:c.300+1G>A;NM_031446:exon3:c.300+1G>A;NM_001201475:exon2:c.36+1G>A;NM_001201474:exon2:c.36+1G>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.300+1G>A;ENST00000269194:exon2:c.36+1G>A;ENST00000587873:exon2:c.36+1G>A;ENST00000333234:exon2:c.36+1G>A)	.	.	0.999981760802075	0.936
18	33555059	G	C	18	35975096	y	y	splicing	C18orf21(NM_001201476:exon3:c.300+1G>C;NM_031446:exon3:c.300+1G>C;NM_001201475:exon2:c.36+1G>C;NM_001201474:exon2:c.36+1G>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.300+1G>C;ENST00000269194:exon2:c.36+1G>C;ENST00000587873:exon2:c.36+1G>C;ENST00000333234:exon2:c.36+1G>C)	.	.	0.999981760802075	0.934
18	33555059	G	T	18	35975096	y	y	splicing	C18orf21(NM_001201476:exon3:c.300+1G>T;NM_031446:exon3:c.300+1G>T;NM_001201475:exon2:c.36+1G>T;NM_001201474:exon2:c.36+1G>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.300+1G>T;ENST00000269194:exon2:c.36+1G>T;ENST00000587873:exon2:c.36+1G>T;ENST00000333234:exon2:c.36+1G>T)	.	.	0.999981760802075	0.936
18	33555060	T	A	18	35975097	y	y	splicing	C18orf21(NM_001201476:exon3:c.300+2T>A;NM_031446:exon3:c.300+2T>A;NM_001201475:exon2:c.36+2T>A;NM_001201474:exon2:c.36+2T>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.300+2T>A;ENST00000269194:exon2:c.36+2T>A;ENST00000587873:exon2:c.36+2T>A;ENST00000333234:exon2:c.36+2T>A)	.	.	0.999988247793601	0.926
18	33555060	T	C	18	35975097	y	y	splicing	C18orf21(NM_001201476:exon3:c.300+2T>C;NM_031446:exon3:c.300+2T>C;NM_001201475:exon2:c.36+2T>C;NM_001201474:exon2:c.36+2T>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.300+2T>C;ENST00000269194:exon2:c.36+2T>C;ENST00000587873:exon2:c.36+2T>C;ENST00000333234:exon2:c.36+2T>C)	.	.	0.99991522016916	0.876
18	33555060	T	G	18	35975097	y	y	splicing	C18orf21(NM_001201476:exon3:c.300+2T>G;NM_031446:exon3:c.300+2T>G;NM_001201475:exon2:c.36+2T>G;NM_001201474:exon2:c.36+2T>G)	.	.	splicing	ENSG00000141428(ENST00000592875:exon3:c.300+2T>G;ENST00000269194:exon2:c.36+2T>G;ENST00000587873:exon2:c.36+2T>G;ENST00000333234:exon2:c.36+2T>G)	.	.	0.999988247793601	0.926
18	33555061	A	C	18	35975098	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999779434855079	0.942
18	33555061	A	G	18	35975098	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.992312603943457	0.732
18	33555061	A	T	18	35975098	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.99964232794908	0.94
18	33555062	A	C	18	35975099	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.998475539239496	0.924
18	33555062	A	G	18	35975099	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999216068954252	0.974
18	33555062	A	T	18	35975099	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.998801523339278	0.956
18	33555063	G	A	18	35975100	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999724945105643	0.964
18	33555063	G	C	18	35975100	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999945578924857	0.988
18	33555063	G	T	18	35975100	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.998784406750233	0.956
18	33555064	A	C	18	35975101	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00116332539225596	0.084
18	33555064	A	G	18	35975101	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	9.76332695815218E-5	0.006
18	33555064	A	T	18	35975101	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.42174892330077E-5	0.006
18	33555065	T	A	18	35975102	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0012535857078485	0.006
18	33555065	T	C	18	35975102	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0012535857078485	0.004
18	33555065	T	G	18	35975102	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0012535857078485	0.006
18	33555066	T	A	18	35975103	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	7.21918841731471E-4	0.018
18	33555066	T	C	18	35975103	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00102112097124694	0.018
18	33555066	T	G	18	35975103	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	6.36724389894395E-4	0.012
18	33557361	T	A	18	35977398	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0723501491078796	0.476
18	33557361	T	C	18	35977398	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.34637187698591E-4	0.058
18	33557361	T	G	18	35977398	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999923399152675	0.956
18	33557362	T	A	18	35977399	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.291991804883956	0.554
18	33557362	T	C	18	35977399	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.006189182135017	0.312
18	33557362	T	G	18	35977399	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.108890514459279	0.534
18	33557363	T	A	18	35977400	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.578977355882349	0.526
18	33557363	T	C	18	35977400	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00138829306278838	0.104
18	33557363	T	G	18	35977400	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.707971074966067	0.528
18	33557364	T	A	18	35977401	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00257875393411059	0.128
18	33557364	T	C	18	35977401	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.064189927873E-4	0.042
18	33557364	T	G	18	35977401	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00207584208793395	0.168
18	33557365	T	A	18	35977402	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0121851532875545	0.23
18	33557365	T	C	18	35977402	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.64010794026259E-5	0.004
18	33557365	T	G	18	35977402	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0276668085747004	0.376
18	33557366	A	C	18	35977403	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.67944982512943E-5	0.0
18	33557366	A	G	18	35977403	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.24118963901726E-5	0.0
18	33557366	A	T	18	35977403	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.58645906776164E-5	0.0
18	33557367	T	A	18	35977404	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999962960481538	0.948
18	33557367	T	C	18	35977404	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	7.2267637586889E-4	0.032
18	33557367	T	G	18	35977404	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999980256681996	0.948
18	33557368	G	A	18	35977405	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999089168532	0.894
18	33557368	G	C	18	35977405	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0014627061263933	0.058
18	33557368	G	T	18	35977405	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00172170590325474	0.104
18	33557369	G	A	18	35977406	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.59099785574297E-4	0.002
18	33557369	G	C	18	35977406	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.99657214088384E-5	0.002
18	33557369	G	T	18	35977406	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.66819877842074E-4	0.0
18	33557370	T	A	18	35977407	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0275259960130826	0.298
18	33557370	T	C	18	35977407	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.24762645661323E-5	0.07
18	33557370	T	G	18	35977407	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.864363006314054	0.658
18	33557371	A	C	18	35977408	y	y	splicing	C18orf21(NM_031446:exon4:c.301-2A>C;NM_001201475:exon3:c.37-2A>C;NM_001201474:exon3:c.37-2A>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.301-2A>C;ENST00000269194:exon3:c.37-2A>C;ENST00000587873:exon3:c.37-2A>C;ENST00000333234:exon3:c.37-2A>C)	.	.	0.999988247793601	0.948
18	33557371	A	G	18	35977408	y	y	splicing	C18orf21(NM_031446:exon4:c.301-2A>G;NM_001201475:exon3:c.37-2A>G;NM_001201474:exon3:c.37-2A>G)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.301-2A>G;ENST00000269194:exon3:c.37-2A>G;ENST00000587873:exon3:c.37-2A>G;ENST00000333234:exon3:c.37-2A>G)	.	.	0.999988247793601	0.948
18	33557371	A	T	18	35977408	y	y	splicing	C18orf21(NM_031446:exon4:c.301-2A>T;NM_001201475:exon3:c.37-2A>T;NM_001201474:exon3:c.37-2A>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.301-2A>T;ENST00000269194:exon3:c.37-2A>T;ENST00000587873:exon3:c.37-2A>T;ENST00000333234:exon3:c.37-2A>T)	.	.	0.999988247793601	0.948
18	33557372	G	A	18	35977409	y	y	splicing	C18orf21(NM_031446:exon4:c.301-1G>A;NM_001201475:exon3:c.37-1G>A;NM_001201474:exon3:c.37-1G>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.301-1G>A;ENST00000269194:exon3:c.37-1G>A;ENST00000587873:exon3:c.37-1G>A;ENST00000333234:exon3:c.37-1G>A)	.	.	0.999990361384395	0.942
18	33557372	G	C	18	35977409	y	y	splicing	C18orf21(NM_031446:exon4:c.301-1G>C;NM_001201475:exon3:c.37-1G>C;NM_001201474:exon3:c.37-1G>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.301-1G>C;ENST00000269194:exon3:c.37-1G>C;ENST00000587873:exon3:c.37-1G>C;ENST00000333234:exon3:c.37-1G>C)	.	.	0.999990361384395	0.948
18	33557372	G	T	18	35977409	y	y	splicing	C18orf21(NM_031446:exon4:c.301-1G>T;NM_001201475:exon3:c.37-1G>T;NM_001201474:exon3:c.37-1G>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.301-1G>T;ENST00000269194:exon3:c.37-1G>T;ENST00000587873:exon3:c.37-1G>T;ENST00000333234:exon3:c.37-1G>T)	.	.	0.999990361384395	0.948
18	33557373	T	A	18	35977410	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.T301A:p.L101M;C18orf21:NM_001201475:exon3:c.T37A:p.L13M;C18orf21:NM_001201474:exon3:c.T37A:p.L13M;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.T37A:p.L13M;ENSG00000141428:ENST00000592875:exon4:c.T301A:p.L101M;ENSG00000141428:ENST00000587873:exon3:c.T37A:p.L13M;ENSG00000141428:ENST00000333234:exon3:c.T37A:p.L13M;	1.17176987501976E-4	0.208
18	33557373	T	C	18	35977410	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon4:c.T301C:p.L101L;C18orf21:NM_001201475:exon3:c.T37C:p.L13L;C18orf21:NM_001201474:exon3:c.T37C:p.L13L;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.T37C:p.L13L;ENSG00000141428:ENST00000592875:exon4:c.T301C:p.L101L;ENSG00000141428:ENST00000587873:exon3:c.T37C:p.L13L;ENSG00000141428:ENST00000333234:exon3:c.T37C:p.L13L;	8.76316064560559E-5	0.016
18	33557373	T	G	18	35977410	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.T301G:p.L101V;C18orf21:NM_001201475:exon3:c.T37G:p.L13V;C18orf21:NM_001201474:exon3:c.T37G:p.L13V;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.T37G:p.L13V;ENSG00000141428:ENST00000592875:exon4:c.T301G:p.L101V;ENSG00000141428:ENST00000587873:exon3:c.T37G:p.L13V;ENSG00000141428:ENST00000333234:exon3:c.T37G:p.L13V;	3.89506115089484E-4	0.242
18	33557374	T	A	18	35977411	y	y	exonic	C18orf21	stopgain SNV	C18orf21:NM_031446:exon4:c.T302A:p.L101X;C18orf21:NM_001201475:exon3:c.T38A:p.L13X;C18orf21:NM_001201474:exon3:c.T38A:p.L13X;	exonic	ENSG00000141428	stopgain SNV	ENSG00000141428:ENST00000269194:exon3:c.T38A:p.L13X;ENSG00000141428:ENST00000592875:exon4:c.T302A:p.L101X;ENSG00000141428:ENST00000587873:exon3:c.T38A:p.L13X;ENSG00000141428:ENST00000333234:exon3:c.T38A:p.L13X;	0.390757487773654	0.476
18	33557374	T	C	18	35977411	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.T302C:p.L101S;C18orf21:NM_001201475:exon3:c.T38C:p.L13S;C18orf21:NM_001201474:exon3:c.T38C:p.L13S;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.T38C:p.L13S;ENSG00000141428:ENST00000592875:exon4:c.T302C:p.L101S;ENSG00000141428:ENST00000587873:exon3:c.T38C:p.L13S;ENSG00000141428:ENST00000333234:exon3:c.T38C:p.L13S;	0.00441888328595549	0.104
18	33557374	T	G	18	35977411	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.T302G:p.L101W;C18orf21:NM_001201475:exon3:c.T38G:p.L13W;C18orf21:NM_001201474:exon3:c.T38G:p.L13W;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.T38G:p.L13W;ENSG00000141428:ENST00000592875:exon4:c.T302G:p.L101W;ENSG00000141428:ENST00000587873:exon3:c.T38G:p.L13W;ENSG00000141428:ENST00000333234:exon3:c.T38G:p.L13W;	0.049866370510201	0.248
18	33557561	C	A	18	35977598	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.C489A:p.F163L;C18orf21:NM_001201475:exon3:c.C225A:p.F75L;C18orf21:NM_001201474:exon3:c.C225A:p.F75L;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.C225A:p.F75L;ENSG00000141428:ENST00000592875:exon4:c.C489A:p.F163L;ENSG00000141428:ENST00000587873:exon3:c.C225A:p.F75L;ENSG00000141428:ENST00000333234:exon3:c.C225A:p.F75L;	8.81090427372462E-4	0.018
18	33557561	C	G	18	35977598	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.C489G:p.F163L;C18orf21:NM_001201475:exon3:c.C225G:p.F75L;C18orf21:NM_001201474:exon3:c.C225G:p.F75L;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.C225G:p.F75L;ENSG00000141428:ENST00000592875:exon4:c.C489G:p.F163L;ENSG00000141428:ENST00000587873:exon3:c.C225G:p.F75L;ENSG00000141428:ENST00000333234:exon3:c.C225G:p.F75L;	0.00115561262191845	0.136
18	33557561	C	T	18	35977598	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon4:c.C489T:p.F163F;C18orf21:NM_001201475:exon3:c.C225T:p.F75F;C18orf21:NM_001201474:exon3:c.C225T:p.F75F;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.C225T:p.F75F;ENSG00000141428:ENST00000592875:exon4:c.C489T:p.F163F;ENSG00000141428:ENST00000587873:exon3:c.C225T:p.F75F;ENSG00000141428:ENST00000333234:exon3:c.C225T:p.F75F;	0.989062729532589	0.844
18	33557562	A	C	18	35977599	y	y	exonic	C18orf21	synonymous SNV	C18orf21:NM_031446:exon4:c.A490C:p.R164R;C18orf21:NM_001201475:exon3:c.A226C:p.R76R;C18orf21:NM_001201474:exon3:c.A226C:p.R76R;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.A226C:p.R76R;ENSG00000141428:ENST00000592875:exon4:c.A490C:p.R164R;ENSG00000141428:ENST00000587873:exon3:c.A226C:p.R76R;ENSG00000141428:ENST00000333234:exon3:c.A226C:p.R76R;	0.999661141885794	0.996
18	33557562	A	G	18	35977599	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.A490G:p.R164G;C18orf21:NM_001201475:exon3:c.A226G:p.R76G;C18orf21:NM_001201474:exon3:c.A226G:p.R76G;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.A226G:p.R76G;ENSG00000141428:ENST00000592875:exon4:c.A490G:p.R164G;ENSG00000141428:ENST00000587873:exon3:c.A226G:p.R76G;ENSG00000141428:ENST00000333234:exon3:c.A226G:p.R76G;	0.999932900114818	1.0
18	33557562	A	T	18	35977599	y	y	exonic	C18orf21	stopgain SNV	C18orf21:NM_031446:exon4:c.A490T:p.R164X;C18orf21:NM_001201475:exon3:c.A226T:p.R76X;C18orf21:NM_001201474:exon3:c.A226T:p.R76X;	exonic	ENSG00000141428	stopgain SNV	ENSG00000141428:ENST00000269194:exon3:c.A226T:p.R76X;ENSG00000141428:ENST00000592875:exon4:c.A490T:p.R164X;ENSG00000141428:ENST00000587873:exon3:c.A226T:p.R76X;ENSG00000141428:ENST00000333234:exon3:c.A226T:p.R76X;	0.999961818180719	0.994
18	33557563	G	A	18	35977600	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.G491A:p.R164K;C18orf21:NM_001201475:exon3:c.G227A:p.R76K;C18orf21:NM_001201474:exon3:c.G227A:p.R76K;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.G227A:p.R76K;ENSG00000141428:ENST00000592875:exon4:c.G491A:p.R164K;ENSG00000141428:ENST00000587873:exon3:c.G227A:p.R76K;ENSG00000141428:ENST00000333234:exon3:c.G227A:p.R76K;	0.999995251296178	1.0
18	33557563	G	C	18	35977600	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.G491C:p.R164T;C18orf21:NM_001201475:exon3:c.G227C:p.R76T;C18orf21:NM_001201474:exon3:c.G227C:p.R76T;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.G227C:p.R76T;ENSG00000141428:ENST00000592875:exon4:c.G491C:p.R164T;ENSG00000141428:ENST00000587873:exon3:c.G227C:p.R76T;ENSG00000141428:ENST00000333234:exon3:c.G227C:p.R76T;	0.999995891092916	0.984
18	33557563	G	T	18	35977600	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon4:c.G491T:p.R164I;C18orf21:NM_001201475:exon3:c.G227T:p.R76I;C18orf21:NM_001201474:exon3:c.G227T:p.R76I;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon3:c.G227T:p.R76I;ENSG00000141428:ENST00000592875:exon4:c.G491T:p.R164I;ENSG00000141428:ENST00000587873:exon3:c.G227T:p.R76I;ENSG00000141428:ENST00000333234:exon3:c.G227T:p.R76I;	0.999981033622093	0.942
18	33557564	G	A	18	35977601	y	y	splicing	C18orf21(NM_031446:exon4:c.491+1G>A;NM_001201475:exon3:c.227+1G>A;NM_001201474:exon3:c.227+1G>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.491+1G>A;ENST00000269194:exon3:c.227+1G>A;ENST00000587873:exon3:c.227+1G>A;ENST00000333234:exon3:c.227+1G>A)	.	.	0.999989125585301	0.944
18	33557564	G	C	18	35977601	y	y	splicing	C18orf21(NM_031446:exon4:c.491+1G>C;NM_001201475:exon3:c.227+1G>C;NM_001201474:exon3:c.227+1G>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.491+1G>C;ENST00000269194:exon3:c.227+1G>C;ENST00000587873:exon3:c.227+1G>C;ENST00000333234:exon3:c.227+1G>C)	.	.	0.999989125585301	0.944
18	33557564	G	T	18	35977601	y	y	splicing	C18orf21(NM_031446:exon4:c.491+1G>T;NM_001201475:exon3:c.227+1G>T;NM_001201474:exon3:c.227+1G>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.491+1G>T;ENST00000269194:exon3:c.227+1G>T;ENST00000587873:exon3:c.227+1G>T;ENST00000333234:exon3:c.227+1G>T)	.	.	0.999989125585301	0.944
18	33557565	T	A	18	35977602	y	y	splicing	C18orf21(NM_031446:exon4:c.491+2T>A;NM_001201475:exon3:c.227+2T>A;NM_001201474:exon3:c.227+2T>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.491+2T>A;ENST00000269194:exon3:c.227+2T>A;ENST00000587873:exon3:c.227+2T>A;ENST00000333234:exon3:c.227+2T>A)	.	.	0.999984890425641	0.934
18	33557565	T	C	18	35977602	y	y	splicing	C18orf21(NM_031446:exon4:c.491+2T>C;NM_001201475:exon3:c.227+2T>C;NM_001201474:exon3:c.227+2T>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.491+2T>C;ENST00000269194:exon3:c.227+2T>C;ENST00000587873:exon3:c.227+2T>C;ENST00000333234:exon3:c.227+2T>C)	.	.	0.984991470730694	0.58
18	33557565	T	G	18	35977602	y	y	splicing	C18orf21(NM_031446:exon4:c.491+2T>G;NM_001201475:exon3:c.227+2T>G;NM_001201474:exon3:c.227+2T>G)	.	.	splicing	ENSG00000141428(ENST00000592875:exon4:c.491+2T>G;ENST00000269194:exon3:c.227+2T>G;ENST00000587873:exon3:c.227+2T>G;ENST00000333234:exon3:c.227+2T>G)	.	.	0.999984890425641	0.934
18	33557566	A	C	18	35977603	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999830312452686	0.988
18	33557566	A	G	18	35977603	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.998871313044771	0.98
18	33557566	A	T	18	35977603	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999850320618045	0.98
18	33557567	T	A	18	35977604	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.90771606127281E-5	0.056
18	33557567	T	C	18	35977604	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.50272966618021E-4	0.158
18	33557567	T	G	18	35977604	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.88314819169767E-5	0.034
18	33557568	C	A	18	35977605	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.71689797912867E-5	0.038
18	33557568	C	G	18	35977605	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.09213993921915E-4	0.062
18	33557568	C	T	18	35977605	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	6.69069652862471E-5	0.004
18	33557569	T	A	18	35977606	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00204523470284736	0.194
18	33557569	T	C	18	35977606	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	8.94193784657346E-4	0.206
18	33557569	T	G	18	35977606	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00196676477453971	0.274
18	33557570	T	A	18	35977607	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.76795727772365E-4	0.01
18	33557570	T	C	18	35977607	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.51308459201429E-4	0.024
18	33557570	T	G	18	35977607	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.9344080434109E-4	0.014
18	33557571	A	C	18	35977608	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.61967067318931E-4	0.148
18	33557571	A	G	18	35977608	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	7.62544971813665E-4	0.188
18	33557571	A	T	18	35977608	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.35189434739737E-5	0.08
18	33558786	G	A	18	35978823	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.4672915834046E-4	0.014
18	33558786	G	C	18	35978823	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.74559481374047E-5	0.004
18	33558786	G	T	18	35978823	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.42197737931549E-5	0.006
18	33558787	T	A	18	35978824	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	1.24958700050715E-4	0.168
18	33558787	T	C	18	35978824	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.89480739832797E-5	0.032
18	33558787	T	G	18	35978824	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.81079507047463E-4	0.106
18	33558788	T	A	18	35978825	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	6.31963952154206E-5	0.046
18	33558788	T	C	18	35978825	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	7.56239810628174E-6	0.018
18	33558788	T	G	18	35978825	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.20389455115139E-5	0.064
18	33558789	T	A	18	35978826	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.566469834542087	0.506
18	33558789	T	C	18	35978826	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0893160418829999	0.322
18	33558789	T	G	18	35978826	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.315283417944504	0.414
18	33558790	C	A	18	35978827	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.64713518634452E-4	0.004
18	33558790	C	G	18	35978827	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	8.03326838535602E-5	0.034
18	33558790	C	T	18	35978827	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	3.21358660892703E-5	0.0
18	33558791	T	A	18	35978828	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00504066894712002	0.116
18	33558791	T	C	18	35978828	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.07421396125669E-4	0.006
18	33558791	T	G	18	35978828	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0011448037173384	0.074
18	33558792	T	A	18	35978829	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00552284497099013	0.13
18	33558792	T	C	18	35978829	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	2.59006285771951E-4	0.022
18	33558792	T	G	18	35978829	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00821481989358878	0.122
18	33558793	T	A	18	35978830	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.111751879841769	0.35
18	33558793	T	C	18	35978830	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00758233930935005	0.16
18	33558793	T	G	18	35978830	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.0306545048371262	0.38
18	33558794	T	A	18	35978831	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.00301944796942485	0.004
18	33558794	T	C	18	35978831	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	9.99214284471492E-4	0.054
18	33558794	T	G	18	35978831	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	4.24172876642731E-4	0.006
18	33558795	C	A	18	35978832	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.983701106182727	0.654
18	33558795	C	G	18	35978832	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.999785639101172	0.952
18	33558795	C	T	18	35978832	y	y	intronic	C18orf21	.	.	intronic	ENSG00000141428	.	.	0.293662845604535	0.178
18	33558796	A	C	18	35978833	y	y	splicing	C18orf21(NM_001201476:exon4:c.301-2A>C;NM_031446:exon5:c.492-2A>C;NM_001201475:exon4:c.228-2A>C;NM_001201474:exon4:c.228-2A>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon5:c.492-2A>C;ENST00000269194:exon4:c.228-2A>C;ENST00000587873:exon4:c.228-2A>C;ENST00000333234:exon4:c.228-2A>C)	.	.	0.999988247793601	0.93
18	33558796	A	G	18	35978833	y	y	splicing	C18orf21(NM_001201476:exon4:c.301-2A>G;NM_031446:exon5:c.492-2A>G;NM_001201475:exon4:c.228-2A>G;NM_001201474:exon4:c.228-2A>G)	.	.	splicing	ENSG00000141428(ENST00000592875:exon5:c.492-2A>G;ENST00000269194:exon4:c.228-2A>G;ENST00000587873:exon4:c.228-2A>G;ENST00000333234:exon4:c.228-2A>G)	.	.	0.999988247793601	0.93
18	33558796	A	T	18	35978833	y	y	splicing	C18orf21(NM_001201476:exon4:c.301-2A>T;NM_031446:exon5:c.492-2A>T;NM_001201475:exon4:c.228-2A>T;NM_001201474:exon4:c.228-2A>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon5:c.492-2A>T;ENST00000269194:exon4:c.228-2A>T;ENST00000587873:exon4:c.228-2A>T;ENST00000333234:exon4:c.228-2A>T)	.	.	0.999988247793601	0.93
18	33558797	G	A	18	35978834	y	y	splicing	C18orf21(NM_001201476:exon4:c.301-1G>A;NM_031446:exon5:c.492-1G>A;NM_001201475:exon4:c.228-1G>A;NM_001201474:exon4:c.228-1G>A)	.	.	splicing	ENSG00000141428(ENST00000592875:exon5:c.492-1G>A;ENST00000269194:exon4:c.228-1G>A;ENST00000587873:exon4:c.228-1G>A;ENST00000333234:exon4:c.228-1G>A)	.	.	0.999989072007339	0.932
18	33558797	G	C	18	35978834	y	y	splicing	C18orf21(NM_001201476:exon4:c.301-1G>C;NM_031446:exon5:c.492-1G>C;NM_001201475:exon4:c.228-1G>C;NM_001201474:exon4:c.228-1G>C)	.	.	splicing	ENSG00000141428(ENST00000592875:exon5:c.492-1G>C;ENST00000269194:exon4:c.228-1G>C;ENST00000587873:exon4:c.228-1G>C;ENST00000333234:exon4:c.228-1G>C)	.	.	0.999989072007339	0.932
18	33558797	G	T	18	35978834	y	y	splicing	C18orf21(NM_001201476:exon4:c.301-1G>T;NM_031446:exon5:c.492-1G>T;NM_001201475:exon4:c.228-1G>T;NM_001201474:exon4:c.228-1G>T)	.	.	splicing	ENSG00000141428(ENST00000592875:exon5:c.492-1G>T;ENST00000269194:exon4:c.228-1G>T;ENST00000587873:exon4:c.228-1G>T;ENST00000333234:exon4:c.228-1G>T)	.	.	0.999989072007339	0.932
18	33558798	A	C	18	35978835	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon5:c.A492C:p.R164S;C18orf21:NM_001201475:exon4:c.A228C:p.R76S;C18orf21:NM_001201476:exon4:c.A301C:p.N101H;C18orf21:NM_001201474:exon4:c.A228C:p.R76S;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon4:c.A228C:p.R76S;ENSG00000141428:ENST00000592875:exon5:c.A492C:p.R164S;ENSG00000141428:ENST00000587873:exon4:c.A228C:p.R76S;ENSG00000141428:ENST00000333234:exon4:c.A228C:p.R76S;	0.0075853051245891	0.068
18	33558798	A	G	18	35978835	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_001201476:exon4:c.A301G:p.N101D;	exonic	ENSG00000141428	synonymous SNV	ENSG00000141428:ENST00000269194:exon4:c.A228G:p.R76R;ENSG00000141428:ENST00000592875:exon5:c.A492G:p.R164R;ENSG00000141428:ENST00000587873:exon4:c.A228G:p.R76R;ENSG00000141428:ENST00000333234:exon4:c.A228G:p.R76R;	1.71614252376205E-4	0.0
18	33558798	A	T	18	35978835	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon5:c.A492T:p.R164S;C18orf21:NM_001201475:exon4:c.A228T:p.R76S;C18orf21:NM_001201476:exon4:c.A301T:p.N101Y;C18orf21:NM_001201474:exon4:c.A228T:p.R76S;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon4:c.A228T:p.R76S;ENSG00000141428:ENST00000592875:exon5:c.A492T:p.R164S;ENSG00000141428:ENST00000587873:exon4:c.A228T:p.R76S;ENSG00000141428:ENST00000333234:exon4:c.A228T:p.R76S;	0.003037735002985	0.094
18	33558799	A	C	18	35978836	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon5:c.A493C:p.T165P;C18orf21:NM_001201475:exon4:c.A229C:p.T77P;C18orf21:NM_001201476:exon4:c.A302C:p.N101T;C18orf21:NM_001201474:exon4:c.A229C:p.T77P;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon4:c.A229C:p.T77P;ENSG00000141428:ENST00000592875:exon5:c.A493C:p.T165P;ENSG00000141428:ENST00000587873:exon4:c.A229C:p.T77P;ENSG00000141428:ENST00000333234:exon4:c.A229C:p.T77P;	0.812069527480625	0.714
18	33558799	A	G	18	35978836	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon5:c.A493G:p.T165A;C18orf21:NM_001201475:exon4:c.A229G:p.T77A;C18orf21:NM_001201476:exon4:c.A302G:p.N101S;C18orf21:NM_001201474:exon4:c.A229G:p.T77A;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon4:c.A229G:p.T77A;ENSG00000141428:ENST00000592875:exon5:c.A493G:p.T165A;ENSG00000141428:ENST00000587873:exon4:c.A229G:p.T77A;ENSG00000141428:ENST00000333234:exon4:c.A229G:p.T77A;	0.831127729186008	0.594
18	33558799	A	T	18	35978836	y	y	exonic	C18orf21	nonsynonymous SNV	C18orf21:NM_031446:exon5:c.A493T:p.T165S;C18orf21:NM_001201475:exon4:c.A229T:p.T77S;C18orf21:NM_001201476:exon4:c.A302T:p.N101I;C18orf21:NM_001201474:exon4:c.A229T:p.T77S;	exonic	ENSG00000141428	nonsynonymous SNV	ENSG00000141428:ENST00000269194:exon4:c.A229T:p.T77S;ENSG00000141428:ENST00000592875:exon5:c.A493T:p.T165S;ENSG00000141428:ENST00000587873:exon4:c.A229T:p.T77S;ENSG00000141428:ENST00000333234:exon4:c.A229T:p.T77S;	0.642906192306354	0.592
18	33568687	T	A	18	35988724	n	y	intergenic	C18orf21(dist=9437);RPRD1A(dist=1105)	.	.	intronic	ENSG00000141425	.	.	8.18429645671592E-5	0.002
18	33568687	T	C	18	35988724	n	y	intergenic	C18orf21(dist=9437);RPRD1A(dist=1105)	.	.	intronic	ENSG00000141425	.	.	5.69439264402225E-5	0.002
18	33568687	T	G	18	35988724	n	y	intergenic	C18orf21(dist=9437);RPRD1A(dist=1105)	.	.	intronic	ENSG00000141425	.	.	5.69439264402225E-5	0.002
18	33568688	G	A	18	35988725	n	y	intergenic	C18orf21(dist=9438);RPRD1A(dist=1104)	.	.	intronic	ENSG00000141425	.	.	1.37184549953077E-4	0.0
18	33568688	G	C	18	35988725	n	y	intergenic	C18orf21(dist=9438);RPRD1A(dist=1104)	.	.	intronic	ENSG00000141425	.	.	1.37184549953077E-4	0.0
18	33568688	G	T	18	35988725	n	y	intergenic	C18orf21(dist=9438);RPRD1A(dist=1104)	.	.	intronic	ENSG00000141425	.	.	1.37184549953077E-4	0.0
18	33568689	A	C	18	35988726	n	y	intergenic	C18orf21(dist=9439);RPRD1A(dist=1103)	.	.	intronic	ENSG00000141425	.	.	8.77536005455013E-4	0.006
18	33568689	A	G	18	35988726	n	y	intergenic	C18orf21(dist=9439);RPRD1A(dist=1103)	.	.	intronic	ENSG00000141425	.	.	8.77536005455013E-4	0.006
18	33568689	A	T	18	35988726	n	y	intergenic	C18orf21(dist=9439);RPRD1A(dist=1103)	.	.	intronic	ENSG00000141425	.	.	6.14959085947539E-4	0.008
18	33568690	A	C	18	35988727	n	y	intergenic	C18orf21(dist=9440);RPRD1A(dist=1102)	.	.	intronic	ENSG00000141425	.	.	4.77798218238944E-4	0.008
18	33568690	A	G	18	35988727	n	y	intergenic	C18orf21(dist=9440);RPRD1A(dist=1102)	.	.	intronic	ENSG00000141425	.	.	4.77798218238944E-4	0.008
18	33568690	A	T	18	35988727	n	y	intergenic	C18orf21(dist=9440);RPRD1A(dist=1102)	.	.	intronic	ENSG00000141425	.	.	4.71557251412777E-4	0.006
18	33568691	T	A	18	35988728	n	y	intergenic	C18orf21(dist=9441);RPRD1A(dist=1101)	.	.	intronic	ENSG00000141425	.	.	5.69439264402225E-5	0.002
18	33568691	T	C	18	35988728	n	y	intergenic	C18orf21(dist=9441);RPRD1A(dist=1101)	.	.	intronic	ENSG00000141425	.	.	5.69439264402225E-5	0.002
18	33568691	T	G	18	35988728	n	y	intergenic	C18orf21(dist=9441);RPRD1A(dist=1101)	.	.	intronic	ENSG00000141425	.	.	5.69439264402225E-5	0.002
18	33568692	T	A	18	35988729	n	y	intergenic	C18orf21(dist=9442);RPRD1A(dist=1100)	.	.	intronic	ENSG00000141425	.	.	1.11389651227104E-4	0.002
18	33568692	T	C	18	35988729	n	y	intergenic	C18orf21(dist=9442);RPRD1A(dist=1100)	.	.	intronic	ENSG00000141425	.	.	1.11389651227104E-4	0.002
18	33568692	T	G	18	35988729	n	y	intergenic	C18orf21(dist=9442);RPRD1A(dist=1100)	.	.	intronic	ENSG00000141425	.	.	1.11389651227104E-4	0.002
18	33568693	A	C	18	35988730	n	y	intergenic	C18orf21(dist=9443);RPRD1A(dist=1099)	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.236+2T>G)	.	.	2.72841159385093E-5	0.002
18	33568693	A	G	18	35988730	n	y	intergenic	C18orf21(dist=9443);RPRD1A(dist=1099)	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.236+2T>C)	.	.	2.72841159385093E-5	0.002
18	33568693	A	T	18	35988730	n	y	intergenic	C18orf21(dist=9443);RPRD1A(dist=1099)	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.236+2T>A)	.	.	2.72841159385093E-5	0.002
18	33568694	C	A	18	35988731	n	y	intergenic	C18orf21(dist=9444);RPRD1A(dist=1098)	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.236+1G>T)	.	.	5.15941453541388E-5	0.002
18	33568694	C	G	18	35988731	n	y	intergenic	C18orf21(dist=9444);RPRD1A(dist=1098)	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.236+1G>C)	.	.	5.15941453541388E-5	0.004
18	33568694	C	T	18	35988731	n	y	intergenic	C18orf21(dist=9444);RPRD1A(dist=1098)	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.236+1G>A)	.	.	5.69439264402225E-5	0.002
18	33568695	C	A	18	35988732	n	y	intergenic	C18orf21(dist=9445);RPRD1A(dist=1097)	.	.	UTR3	ENSG00000141425	.	.	2.72841159385093E-5	0.0
18	33568695	C	G	18	35988732	n	y	intergenic	C18orf21(dist=9445);RPRD1A(dist=1097)	.	.	UTR3	ENSG00000141425	.	.	4.95905533305893E-5	0.0
18	33568695	C	T	18	35988732	n	y	intergenic	C18orf21(dist=9445);RPRD1A(dist=1097)	.	.	UTR3	ENSG00000141425	.	.	2.72841159385093E-5	0.0
18	33568696	T	A	18	35988733	n	y	intergenic	C18orf21(dist=9446);RPRD1A(dist=1096)	.	.	UTR3	ENSG00000141425	.	.	1.02737596553535E-4	0.002
18	33568696	T	C	18	35988733	n	y	intergenic	C18orf21(dist=9446);RPRD1A(dist=1096)	.	.	UTR3	ENSG00000141425	.	.	8.82939670392646E-5	0.002
18	33568696	T	G	18	35988733	n	y	intergenic	C18orf21(dist=9446);RPRD1A(dist=1096)	.	.	UTR3	ENSG00000141425	.	.	8.82939670392646E-5	0.002
18	33568697	G	A	18	35988734	n	y	intergenic	C18orf21(dist=9447);RPRD1A(dist=1095)	.	.	UTR3	ENSG00000141425	.	.	3.63419814120846E-5	0.0
18	33568697	G	C	18	35988734	n	y	intergenic	C18orf21(dist=9447);RPRD1A(dist=1095)	.	.	UTR3	ENSG00000141425	.	.	3.63419814120846E-5	0.0
18	33568697	G	T	18	35988734	n	y	intergenic	C18orf21(dist=9447);RPRD1A(dist=1095)	.	.	UTR3	ENSG00000141425	.	.	3.63419814120846E-5	0.0
18	33568797	A	C	18	35988834	n	y	downstream	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	6.07710370919652E-5	0.018
18	33568797	A	G	18	35988834	n	y	downstream	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	6.07710370919652E-5	0.018
18	33568797	A	T	18	35988834	n	y	downstream	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	6.07710370919652E-5	0.018
18	33568798	C	A	18	35988835	n	y	downstream	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	5.10250552304391E-5	0.0
18	33568798	C	G	18	35988835	n	y	downstream	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.30338091304305E-5	0.0
18	33568798	C	T	18	35988835	n	y	downstream	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	5.10250552304391E-5	0.0
18	33568799	C	A	18	35988836	n	y	downstream	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.133-1G>T)	.	.	3.07620641825897E-5	0.0
18	33568799	C	G	18	35988836	n	y	downstream	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.133-1G>C)	.	.	3.07620641825897E-5	0.0
18	33568799	C	T	18	35988836	n	y	downstream	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.133-1G>A)	.	.	3.07620641825897E-5	0.0
18	33568800	T	A	18	35988837	n	y	downstream	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.133-2A>T)	.	.	8.53292460361593E-5	0.01
18	33568800	T	C	18	35988837	n	y	downstream	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.133-2A>G)	.	.	4.10529984002121E-5	0.004
18	33568800	T	G	18	35988837	n	y	downstream	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000585879:exon4:c.133-2A>C)	.	.	4.10529984002121E-5	0.004
18	33568801	A	C	18	35988838	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.12073509907113E-6	0.004
18	33568801	A	G	18	35988838	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.12073509907113E-6	0.004
18	33568801	A	T	18	35988838	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.25437117408849E-5	0.0
18	33568802	T	A	18	35988839	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.47039489069415E-5	0.006
18	33568802	T	C	18	35988839	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.14301101535901E-5	0.002
18	33568802	T	G	18	35988839	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.14301101535901E-5	0.002
18	33568803	T	A	18	35988840	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.8091518663914E-5	0.0
18	33568803	T	C	18	35988840	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.8091518663914E-5	0.0
18	33568803	T	G	18	35988840	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.8091518663914E-5	0.0
18	33568804	G	A	18	35988841	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.3525528897954E-5	0.004
18	33568804	G	C	18	35988841	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.83188681281962E-5	0.012
18	33568804	G	T	18	35988841	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.83188681281962E-5	0.052
18	33568805	C	A	18	35988842	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.68952365742707E-5	0.006
18	33568805	C	G	18	35988842	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.68952365742707E-5	0.002
18	33568805	C	T	18	35988842	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.68952365742707E-5	0.004
18	33568806	A	C	18	35988843	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00102211620560074	0.03
18	33568806	A	G	18	35988843	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00102211620560074	0.03
18	33568806	A	T	18	35988843	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00102211620560074	0.03
18	33568807	G	A	18	35988844	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.97864243205666E-5	0.002
18	33568807	G	C	18	35988844	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.22319008290309E-5	0.002
18	33568807	G	T	18	35988844	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.22319008290309E-5	0.002
18	33568808	A	C	18	35988845	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	6.89925739660516E-5	0.006
18	33568808	A	G	18	35988845	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.72863585454216E-5	0.006
18	33568808	A	T	18	35988845	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	6.89925739660516E-5	0.004
18	33568809	A	C	18	35988846	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.35513354136389E-5	0.002
18	33568809	A	G	18	35988846	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.35513354136389E-5	0.002
18	33568809	A	T	18	35988846	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.69927871199353E-5	0.002
18	33568810	G	A	18	35988847	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.45277156108894E-5	0.002
18	33568810	G	C	18	35988847	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.45277156108894E-5	0.002
18	33568810	G	T	18	35988847	n	y	downstream	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.45277156108894E-5	0.002
18	33570481	T	A	18	35990518	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.181614284968627	0.446
18	33570481	T	C	18	35990518	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0437772068331588	0.166
18	33570481	T	G	18	35990518	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0437772068331588	0.176
18	33570482	T	A	18	35990519	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	7.15838005414123E-4	0.008
18	33570482	T	C	18	35990519	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	7.15838005414123E-4	0.008
18	33570482	T	G	18	35990519	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	7.15838005414123E-4	0.008
18	33570483	A	C	18	35990520	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.104557125287749	0.258
18	33570483	A	G	18	35990520	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0594917922776698	0.216
18	33570483	A	T	18	35990520	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.222386838235996	0.432
18	33570484	C	A	18	35990521	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	9.97503651702036E-4	0.002
18	33570484	C	G	18	35990521	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	9.7057495309074E-4	0.002
18	33570484	C	T	18	35990521	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	9.97503651702036E-4	0.002
18	33570485	T	A	18	35990522	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	7.15838005414123E-4	0.002
18	33570485	T	C	18	35990522	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	7.15838005414123E-4	0.002
18	33570485	T	G	18	35990522	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	7.15838005414123E-4	0.002
18	33570486	T	A	18	35990523	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0255974694697583	0.1
18	33570486	T	C	18	35990523	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.018930585655634	0.044
18	33570486	T	G	18	35990523	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.018930585655634	0.044
18	33570487	A	C	18	35990524	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.269+2T>G;ENST00000585879:exon3:c.132+2T>G)	.	.	0.018930585655634	0.042
18	33570487	A	G	18	35990524	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.269+2T>C;ENST00000585879:exon3:c.132+2T>C)	.	.	0.018930585655634	0.042
18	33570487	A	T	18	35990524	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.269+2T>A;ENST00000585879:exon3:c.132+2T>A)	.	.	0.0255974694697583	0.094
18	33570488	C	A	18	35990525	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.269+1G>T;ENST00000585879:exon3:c.132+1G>T)	.	.	0.042740114834783	0.084
18	33570488	C	G	18	35990525	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.269+1G>C;ENST00000585879:exon3:c.132+1G>C)	.	.	0.0357573328857635	0.084
18	33570488	C	T	18	35990525	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.269+1G>A;ENST00000585879:exon3:c.132+1G>A)	.	.	0.042740114834783	0.086
18	33570489	T	A	18	35990526	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.09333326667097E-4	0.034
18	33570489	T	C	18	35990526	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.41972496645175E-4	0.034
18	33570489	T	G	18	35990526	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.41972496645175E-4	0.034
18	33570490	G	A	18	35990527	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.44890220172881E-4	0.002
18	33570490	G	C	18	35990527	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.46413180592529E-4	0.004
18	33570490	G	T	18	35990527	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.44890220172881E-4	0.008
18	33570491	T	A	18	35990528	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.92924058340623E-4	0.004
18	33570491	T	C	18	35990528	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.92924058340623E-4	0.002
18	33570491	T	G	18	35990528	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.92924058340623E-4	0.002
18	33570557	C	A	18	35990594	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00102657369250914	0.028
18	33570557	C	G	18	35990594	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00102657369250914	0.02
18	33570557	C	T	18	35990594	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00151841170347799	0.022
18	33570558	A	C	18	35990595	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.36814517409626E-4	0.024
18	33570558	A	G	18	35990595	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.36814517409626E-4	0.024
18	33570558	A	T	18	35990595	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.72570449881162E-4	0.018
18	33570559	C	A	18	35990596	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.200-1G>T;ENST00000585879:exon3:c.63-1G>T;ENST00000590898:exon10:c.881-1G>T;ENST00000337059:exon9:c.881-1G>T;ENST00000357384:exon9:c.989-1G>T)	.	.	0.0829303037423624	0.316
18	33570559	C	G	18	35990596	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.200-1G>C;ENST00000585879:exon3:c.63-1G>C;ENST00000590898:exon10:c.881-1G>C;ENST00000337059:exon9:c.881-1G>C;ENST00000357384:exon9:c.989-1G>C)	.	.	0.0829303037423624	0.29
18	33570559	C	T	18	35990596	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.200-1G>A;ENST00000585879:exon3:c.63-1G>A;ENST00000590898:exon10:c.881-1G>A;ENST00000337059:exon9:c.881-1G>A;ENST00000357384:exon9:c.989-1G>A)	.	.	0.171898457223472	0.4
18	33570560	T	A	18	35990597	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.200-2A>T;ENST00000585879:exon3:c.63-2A>T;ENST00000590898:exon10:c.881-2A>T;ENST00000337059:exon9:c.881-2A>T;ENST00000357384:exon9:c.989-2A>T)	.	.	2.73451959703779E-4	0.038
18	33570560	T	C	18	35990597	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.200-2A>G;ENST00000585879:exon3:c.63-2A>G;ENST00000590898:exon10:c.881-2A>G;ENST00000337059:exon9:c.881-2A>G;ENST00000357384:exon9:c.989-2A>G)	.	.	1.77882178449774E-4	0.0
18	33570560	T	G	18	35990597	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon3:c.200-2A>C;ENST00000585879:exon3:c.63-2A>C;ENST00000590898:exon10:c.881-2A>C;ENST00000337059:exon9:c.881-2A>C;ENST00000357384:exon9:c.989-2A>C)	.	.	1.97456402319169E-4	0.002
18	33570561	G	A	18	35990598	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0218013593461534	0.068
18	33570561	G	C	18	35990598	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0148371759462779	0.066
18	33570561	G	T	18	35990598	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0148371759462779	0.076
18	33570562	T	A	18	35990599	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0122850908633762	0.034
18	33570562	T	C	18	35990599	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0117931559103126	0.032
18	33570562	T	G	18	35990599	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0117931559103126	0.032
18	33570563	A	C	18	35990600	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.61821323901995E-4	0.034
18	33570563	A	G	18	35990600	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.61821323901995E-4	0.022
18	33570563	A	T	18	35990600	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.61821323901995E-4	0.016
18	33570564	T	A	18	35990601	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	9.80257671126134E-4	0.002
18	33570564	T	C	18	35990601	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	7.77282158008052E-4	0.002
18	33570564	T	G	18	35990601	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	7.77282158008052E-4	0.004
18	33570565	G	A	18	35990602	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.39179256655471E-4	0.016
18	33570565	G	C	18	35990602	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.04216853070732E-4	0.01
18	33570565	G	T	18	35990602	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.39179256655471E-4	0.012
18	33570566	T	A	18	35990603	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.50014361262222E-4	0.002
18	33570566	T	C	18	35990603	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.51591174045998E-4	0.004
18	33570566	T	G	18	35990603	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.51591174045998E-4	0.004
18	33570567	G	A	18	35990604	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.83724334551024E-4	0.008
18	33570567	G	C	18	35990604	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	4.22959446752711E-4	0.014
18	33570567	G	T	18	35990604	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.83724334551024E-4	0.01
18	33570568	G	A	18	35990605	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.042740114834783	0.084
18	33570568	G	C	18	35990605	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0410793819238282	0.078
18	33570568	G	T	18	35990605	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.042740114834783	0.086
18	33570569	A	C	18	35990606	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	2.40455273620508E-4	0.002
18	33570569	A	G	18	35990606	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	2.40455273620508E-4	0.002
18	33570569	A	T	18	35990606	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	2.17503189594235E-4	0.004
18	33570570	G	A	18	35990607	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00430475285361103	0.036
18	33570570	G	C	18	35990607	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00319246876455367	0.042
18	33570570	G	T	18	35990607	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00496959060776242	0.038
18	33573057	C	A	18	35993094	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0121845153080787	0.054
18	33573057	C	G	18	35993094	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0121845153080787	0.066
18	33573057	C	T	18	35993094	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0121845153080787	0.048
18	33573058	A	C	18	35993095	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.07902708129146E-4	0.002
18	33573058	A	G	18	35993095	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.07902708129146E-4	0.002
18	33573058	A	T	18	35993095	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	1.44101454748109E-4	0.004
18	33573059	C	A	18	35993096	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00159610464863394	0.05
18	33573059	C	G	18	35993096	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00159610464863394	0.044
18	33573059	C	T	18	35993096	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00236016390716474	0.048
18	33573060	C	A	18	35993097	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00843785599150517	0.054
18	33573060	C	G	18	35993097	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00639251460375416	0.05
18	33573060	C	T	18	35993097	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00936850840229416	0.056
18	33573061	T	A	18	35993098	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00295790569149578	0.04
18	33573061	T	C	18	35993098	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00295790569149578	0.012
18	33573061	T	G	18	35993098	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00295790569149578	0.012
18	33573062	A	C	18	35993099	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00295790569149578	0.022
18	33573062	A	G	18	35993099	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00295790569149578	0.018
18	33573062	A	T	18	35993099	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00437100848571084	0.014
18	33573063	A	C	18	35993100	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon2:c.199+2T>G;ENST00000585879:exon2:c.62+2T>G;ENST00000590898:exon9:c.880+2T>G;ENST00000337059:exon8:c.880+2T>G;ENST00000357384:exon8:c.988+2T>G)	.	.	0.430275035116703	0.626
18	33573063	A	G	18	35993100	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon2:c.199+2T>C;ENST00000585879:exon2:c.62+2T>C;ENST00000590898:exon9:c.880+2T>C;ENST00000337059:exon8:c.880+2T>C;ENST00000357384:exon8:c.988+2T>C)	.	.	0.399150606717926	0.606
18	33573063	A	T	18	35993100	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon2:c.199+2T>A;ENST00000585879:exon2:c.62+2T>A;ENST00000590898:exon9:c.880+2T>A;ENST00000337059:exon8:c.880+2T>A;ENST00000357384:exon8:c.988+2T>A)	.	.	0.532258952000143	0.728
18	33573064	C	A	18	35993101	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon2:c.199+1G>T;ENST00000585879:exon2:c.62+1G>T;ENST00000590898:exon9:c.880+1G>T;ENST00000337059:exon8:c.880+1G>T;ENST00000357384:exon8:c.988+1G>T)	.	.	0.0674502453221801	0.28
18	33573064	C	G	18	35993101	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon2:c.199+1G>C;ENST00000585879:exon2:c.62+1G>C;ENST00000590898:exon9:c.880+1G>C;ENST00000337059:exon8:c.880+1G>C;ENST00000357384:exon8:c.988+1G>C)	.	.	0.0674502453221801	0.254
18	33573064	C	T	18	35993101	n	y	UTR3	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000587563:exon2:c.199+1G>A;ENST00000585879:exon2:c.62+1G>A;ENST00000590898:exon9:c.880+1G>A;ENST00000337059:exon8:c.880+1G>A;ENST00000357384:exon8:c.988+1G>A)	.	.	0.127432011360708	0.312
18	33573065	C	A	18	35993102	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	2.38927251982123E-4	0.03
18	33573065	C	G	18	35993102	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	4.4471649152377E-4	0.026
18	33573065	C	T	18	35993102	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.08042231235821E-4	0.028
18	33573066	T	A	18	35993103	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00437100848571084	0.016
18	33573066	T	C	18	35993103	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00437100848571084	0.012
18	33573066	T	G	18	35993103	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00437100848571084	0.012
18	33573067	G	A	18	35993104	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00936850840229416	0.056
18	33573067	G	C	18	35993104	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00639251460375416	0.05
18	33573067	G	T	18	35993104	n	y	UTR3	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00843785599150517	0.054
18	33573262	T	A	18	35993299	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon7:c.A791T:p.E264V;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon7:c.A683T:p.E228V;ENSG00000141425:ENST00000587563:exon1:c.A2T:p.E1V;ENSG00000141425:ENST00000590898:exon8:c.A683T:p.E228V;ENSG00000141425:ENST00000399022:exon7:c.A791T:p.E264V;ENSG00000141425:ENST00000357384:exon7:c.A791T:p.E264V;ENSG00000141425:ENST00000588737:exon8:c.A683T:p.E228V;	0.876789930063029	0.784
18	33573262	T	C	18	35993299	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon7:c.A791G:p.E264G;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon7:c.A683G:p.E228G;ENSG00000141425:ENST00000587563:exon1:c.A2G:p.E1G;ENSG00000141425:ENST00000590898:exon8:c.A683G:p.E228G;ENSG00000141425:ENST00000399022:exon7:c.A791G:p.E264G;ENSG00000141425:ENST00000357384:exon7:c.A791G:p.E264G;ENSG00000141425:ENST00000588737:exon8:c.A683G:p.E228G;	0.885453693318298	0.766
18	33573262	T	G	18	35993299	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon7:c.A791C:p.E264A;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon7:c.A683C:p.E228A;ENSG00000141425:ENST00000587563:exon1:c.A2C:p.E1A;ENSG00000141425:ENST00000590898:exon8:c.A683C:p.E228A;ENSG00000141425:ENST00000399022:exon7:c.A791C:p.E264A;ENSG00000141425:ENST00000357384:exon7:c.A791C:p.E264A;ENSG00000141425:ENST00000588737:exon8:c.A683C:p.E228A;	0.860460952446081	0.802
18	33573263	C	A	18	35993300	y	y	exonic	RPRD1A	stopgain SNV	RPRD1A:NM_018170:exon7:c.G790T:p.E264X;	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000337059:exon7:c.G682T:p.E228X;ENSG00000141425:ENST00000587563:exon1:c.G1T:p.E1X;ENSG00000141425:ENST00000590898:exon8:c.G682T:p.E228X;ENSG00000141425:ENST00000399022:exon7:c.G790T:p.E264X;ENSG00000141425:ENST00000357384:exon7:c.G790T:p.E264X;ENSG00000141425:ENST00000588737:exon8:c.G682T:p.E228X;	0.999901302926862	0.956
18	33573263	C	G	18	35993300	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon7:c.G790C:p.E264Q;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon7:c.G682C:p.E228Q;ENSG00000141425:ENST00000587563:exon1:c.G1C:p.E1Q;ENSG00000141425:ENST00000590898:exon8:c.G682C:p.E228Q;ENSG00000141425:ENST00000399022:exon7:c.G790C:p.E264Q;ENSG00000141425:ENST00000357384:exon7:c.G790C:p.E264Q;ENSG00000141425:ENST00000588737:exon8:c.G682C:p.E228Q;	0.999775305166823	0.976
18	33573263	C	T	18	35993300	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon7:c.G790A:p.E264K;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon7:c.G682A:p.E228K;ENSG00000141425:ENST00000587563:exon1:c.G1A:p.E1K;ENSG00000141425:ENST00000590898:exon8:c.G682A:p.E228K;ENSG00000141425:ENST00000399022:exon7:c.G790A:p.E264K;ENSG00000141425:ENST00000357384:exon7:c.G790A:p.E264K;ENSG00000141425:ENST00000588737:exon8:c.G682A:p.E228K;	0.999645265286656	0.888
18	33573264	C	A	18	35993301	y	y	splicing	RPRD1A(NM_018170:exon8:c.790-1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon8:c.790-1G>T;ENST00000590898:exon9:c.682-1G>T;ENST00000337059:exon8:c.682-1G>T;ENST00000357384:exon8:c.790-1G>T;ENST00000588737:exon9:c.682-1G>T)	.	.	0.999983677848485	0.944
18	33573264	C	G	18	35993301	y	y	splicing	RPRD1A(NM_018170:exon8:c.790-1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon8:c.790-1G>C;ENST00000590898:exon9:c.682-1G>C;ENST00000337059:exon8:c.682-1G>C;ENST00000357384:exon8:c.790-1G>C;ENST00000588737:exon9:c.682-1G>C)	.	.	0.999983677848485	0.944
18	33573264	C	T	18	35993301	y	y	splicing	RPRD1A(NM_018170:exon8:c.790-1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon8:c.790-1G>A;ENST00000590898:exon9:c.682-1G>A;ENST00000337059:exon8:c.682-1G>A;ENST00000357384:exon8:c.790-1G>A;ENST00000588737:exon9:c.682-1G>A)	.	.	0.999983677848485	0.944
18	33573265	T	A	18	35993302	y	y	splicing	RPRD1A(NM_018170:exon8:c.790-2A>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon8:c.790-2A>T;ENST00000590898:exon9:c.682-2A>T;ENST00000337059:exon8:c.682-2A>T;ENST00000357384:exon8:c.790-2A>T;ENST00000588737:exon9:c.682-2A>T)	.	.	0.999986741007567	0.946
18	33573265	T	C	18	35993302	y	y	splicing	RPRD1A(NM_018170:exon8:c.790-2A>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon8:c.790-2A>G;ENST00000590898:exon9:c.682-2A>G;ENST00000337059:exon8:c.682-2A>G;ENST00000357384:exon8:c.790-2A>G;ENST00000588737:exon9:c.682-2A>G)	.	.	0.999986741007567	0.946
18	33573265	T	G	18	35993302	y	y	splicing	RPRD1A(NM_018170:exon8:c.790-2A>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon8:c.790-2A>C;ENST00000590898:exon9:c.682-2A>C;ENST00000337059:exon8:c.682-2A>C;ENST00000357384:exon8:c.790-2A>C;ENST00000588737:exon9:c.682-2A>C)	.	.	0.999986741007567	0.946
18	33573266	G	A	18	35993303	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.068930946327248	0.1
18	33573266	G	C	18	35993303	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.99989742031701	0.88
18	33573266	G	T	18	35993303	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999837781596406	0.882
18	33573267	T	A	18	35993304	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.12329525362265E-4	0.016
18	33573267	T	C	18	35993304	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.36123300666089E-4	0.03
18	33573267	T	G	18	35993304	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.74343152461059E-5	0.028
18	33573268	A	C	18	35993305	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.92671023272063	0.608
18	33573268	A	G	18	35993305	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0243018981114699	0.164
18	33573268	A	T	18	35993305	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.94931577398709	0.614
18	33573269	A	C	18	35993306	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.884248773555046	0.698
18	33573269	A	G	18	35993306	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.54256500232379E-4	0.054
18	33573269	A	T	18	35993306	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.94727361473685	0.712
18	33573270	C	A	18	35993307	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.06968951651139E-4	0.03
18	33573270	C	G	18	35993307	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.06968951651139E-4	0.044
18	33573270	C	T	18	35993307	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.89985039382809E-4	0.018
18	33573271	A	C	18	35993308	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999942252891406	0.988
18	33573271	A	G	18	35993308	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00195422656548434	0.082
18	33573271	A	T	18	35993308	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999937423846765	0.982
18	33573272	T	A	18	35993309	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.71274805815602E-5	0.016
18	33573272	T	C	18	35993309	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.72720651735036E-5	0.008
18	33573272	T	G	18	35993309	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.64822404808203E-5	0.004
18	33573273	C	A	18	35993310	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.84200416557192E-4	0.014
18	33573273	C	G	18	35993310	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	6.67637053276442E-5	0.0
18	33573273	C	T	18	35993310	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.41639732637284E-4	0.024
18	33573274	A	C	18	35993311	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.997798597085123	0.914
18	33573274	A	G	18	35993311	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.865101620683998	0.518
18	33573274	A	T	18	35993311	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999969443859103	0.962
18	33573275	A	C	18	35993312	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.733279782783478	0.602
18	33573275	A	G	18	35993312	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0094349444695791	0.124
18	33573275	A	T	18	35993312	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.784290468305538	0.772
18	33605640	A	C	18	36025677	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000319040:exon7:c.T791G:p.I264R;ENSG00000141425:ENST00000589050:exon7:c.T791G:p.I264R;	0.222914695171659	0.422
18	33605640	A	G	18	36025677	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000319040:exon7:c.T791C:p.I264T;ENSG00000141425:ENST00000589050:exon7:c.T791C:p.I264T;	0.222914695171659	0.422
18	33605640	A	T	18	36025677	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000319040:exon7:c.T791A:p.I264K;ENSG00000141425:ENST00000589050:exon7:c.T791A:p.I264K;	0.778112146900153	0.666
18	33605641	T	A	18	36025678	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000319040:exon7:c.A790T:p.I264L;ENSG00000141425:ENST00000589050:exon7:c.A790T:p.I264L;	6.17229595467088E-4	0.06
18	33605641	T	C	18	36025678	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000319040:exon7:c.A790G:p.I264V;ENSG00000141425:ENST00000589050:exon7:c.A790G:p.I264V;	3.96501559766559E-5	0.052
18	33605641	T	G	18	36025678	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000319040:exon7:c.A790C:p.I264L;ENSG00000141425:ENST00000589050:exon7:c.A790C:p.I264L;	3.34643284565275E-4	0.074
18	33605642	C	A	18	36025679	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000319040:exon8:c.790-1G>T;ENST00000589050:exon8:c.790-1G>T)	.	.	0.994751797357394	0.892
18	33605642	C	G	18	36025679	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000319040:exon8:c.790-1G>C;ENST00000589050:exon8:c.790-1G>C)	.	.	0.995645736998816	0.88
18	33605642	C	T	18	36025679	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000319040:exon8:c.790-1G>A;ENST00000589050:exon8:c.790-1G>A)	.	.	0.994751797357394	0.894
18	33605643	T	A	18	36025680	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000319040:exon8:c.790-2A>T;ENST00000589050:exon8:c.790-2A>T)	.	.	0.848705028267784	0.71
18	33605643	T	C	18	36025680	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000319040:exon8:c.790-2A>G;ENST00000589050:exon8:c.790-2A>G)	.	.	0.871255881559155	0.696
18	33605643	T	G	18	36025680	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000319040:exon8:c.790-2A>C;ENST00000589050:exon8:c.790-2A>C)	.	.	0.871255881559155	0.698
18	33605644	G	A	18	36025681	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0876355002493067	0.21
18	33605644	G	C	18	36025681	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0740445299217736	0.124
18	33605644	G	T	18	36025681	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0876355002493067	0.198
18	33605645	C	A	18	36025682	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	5.28560746661526E-4	0.072
18	33605645	C	G	18	36025682	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	5.34114364837482E-4	0.07
18	33605645	C	T	18	36025682	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	5.28560746661526E-4	0.078
18	33605646	A	C	18	36025683	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0373276068063508	0.152
18	33605646	A	G	18	36025683	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0373276068063508	0.148
18	33605646	A	T	18	36025683	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0960729496332651	0.254
18	33605647	A	C	18	36025684	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0373276068063508	0.148
18	33605647	A	G	18	36025684	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0373276068063508	0.142
18	33605647	A	T	18	36025684	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0712711620934987	0.212
18	33605648	C	A	18	36025685	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00270312695873101	0.1
18	33605648	C	G	18	36025685	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00270312695873101	0.104
18	33605648	C	T	18	36025685	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.00420900165087253	0.082
18	33605649	A	C	18	36025686	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0315711839617418	0.136
18	33605649	A	G	18	36025686	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0315711839617418	0.136
18	33605649	A	T	18	36025686	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0960729496332651	0.264
18	33605650	G	A	18	36025687	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0180806011847457	0.194
18	33605650	G	C	18	36025687	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0180806011847457	0.192
18	33605650	G	T	18	36025687	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.0180806011847457	0.188
18	33605651	A	C	18	36025688	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.848705028267784	0.706
18	33605651	A	G	18	36025688	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.848705028267784	0.706
18	33605651	A	T	18	36025688	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.846608002350032	0.728
18	33605652	A	C	18	36025689	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.848705028267784	0.71
18	33605652	A	G	18	36025689	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.848705028267784	0.706
18	33605652	A	T	18	36025689	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.848705028267784	0.706
18	33605653	G	A	18	36025690	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.992844853960042	0.86
18	33605653	G	C	18	36025690	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.993383568605494	0.862
18	33605653	G	T	18	36025690	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	0.993383568605494	0.858
18	33606855	T	A	18	36026892	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.0106018511225497	0.04
18	33606855	T	C	18	36026892	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.00442035325027483	0.038
18	33606855	T	G	18	36026892	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.00442035325027483	0.094
18	33606856	T	A	18	36026893	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.157709910242987	0.286
18	33606856	T	C	18	36026893	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.0520038238223305	0.168
18	33606856	T	G	18	36026893	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.040643077801278	0.126
18	33606857	A	C	18	36026894	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.998341131265734	0.94
18	33606857	A	G	18	36026894	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.995301166447181	0.94
18	33606857	A	T	18	36026894	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.999574930821444	0.884
18	33606858	C	A	18	36026895	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.999960643633654	0.978
18	33606858	C	G	18	36026895	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.999960643633654	0.998
18	33606858	C	T	18	36026895	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.999960705847094	1.0
18	33606859	G	A	18	36026896	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.907007291577186	0.576
18	33606859	G	C	18	36026896	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.218121481614569	0.468
18	33606859	G	T	18	36026896	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.00171941997549215	0.122
18	33606860	C	A	18	36026897	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.999788669159438	0.858
18	33606860	C	G	18	36026897	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.999788669159438	0.854
18	33606860	C	T	18	36026897	y	n	intronic	RPRD1A	.	.	exonic	ENSG00000141425	unknown	UNKNOWN	0.00417592817473681	0.07
18	33606861	A	C	18	36026898	y	n	splicing	RPRD1A(NM_018170:exon7:c.789+2T>G)	.	.	exonic;splicing	ENSG00000141425;ENSG00000141425(ENST00000399022:exon7:c.789+2T>G;ENST00000590898:exon8:c.681+2T>G;ENST00000337059:exon7:c.681+2T>G;ENST00000357384:exon7:c.789+2T>G;ENST00000588737:exon8:c.681+2T>G;ENST00000319040:exon7:c.789+2T>G;ENST00000589050:exon7:c.789+2T>G)	unknown	UNKNOWN	0.999988624979899	0.934
18	33606861	A	G	18	36026898	y	n	splicing	RPRD1A(NM_018170:exon7:c.789+2T>C)	.	.	exonic;splicing	ENSG00000141425;ENSG00000141425(ENST00000399022:exon7:c.789+2T>C;ENST00000590898:exon8:c.681+2T>C;ENST00000337059:exon7:c.681+2T>C;ENST00000357384:exon7:c.789+2T>C;ENST00000588737:exon8:c.681+2T>C;ENST00000319040:exon7:c.789+2T>C;ENST00000589050:exon7:c.789+2T>C)	unknown	UNKNOWN	0.999907671238156	0.882
18	33606861	A	T	18	36026898	y	n	splicing	RPRD1A(NM_018170:exon7:c.789+2T>A)	.	.	exonic;splicing	ENSG00000141425;ENSG00000141425(ENST00000399022:exon7:c.789+2T>A;ENST00000590898:exon8:c.681+2T>A;ENST00000337059:exon7:c.681+2T>A;ENST00000357384:exon7:c.789+2T>A;ENST00000588737:exon8:c.681+2T>A;ENST00000319040:exon7:c.789+2T>A;ENST00000589050:exon7:c.789+2T>A)	unknown	UNKNOWN	0.999988624979899	0.934
18	33606862	C	A	18	36026899	y	n	splicing	RPRD1A(NM_018170:exon7:c.789+1G>T)	.	.	exonic;splicing	ENSG00000141425;ENSG00000141425(ENST00000399022:exon7:c.789+1G>T;ENST00000590898:exon8:c.681+1G>T;ENST00000337059:exon7:c.681+1G>T;ENST00000357384:exon7:c.789+1G>T;ENST00000588737:exon8:c.681+1G>T;ENST00000319040:exon7:c.789+1G>T;ENST00000589050:exon7:c.789+1G>T)	unknown	UNKNOWN	0.999983677848485	0.944
18	33606862	C	G	18	36026899	y	n	splicing	RPRD1A(NM_018170:exon7:c.789+1G>C)	.	.	exonic;splicing	ENSG00000141425;ENSG00000141425(ENST00000399022:exon7:c.789+1G>C;ENST00000590898:exon8:c.681+1G>C;ENST00000337059:exon7:c.681+1G>C;ENST00000357384:exon7:c.789+1G>C;ENST00000588737:exon8:c.681+1G>C;ENST00000319040:exon7:c.789+1G>C;ENST00000589050:exon7:c.789+1G>C)	unknown	UNKNOWN	0.999983677848485	0.944
18	33606862	C	T	18	36026899	y	n	splicing	RPRD1A(NM_018170:exon7:c.789+1G>A)	.	.	exonic;splicing	ENSG00000141425;ENSG00000141425(ENST00000399022:exon7:c.789+1G>A;ENST00000590898:exon8:c.681+1G>A;ENST00000337059:exon7:c.681+1G>A;ENST00000357384:exon7:c.789+1G>A;ENST00000588737:exon8:c.681+1G>A;ENST00000319040:exon7:c.789+1G>A;ENST00000589050:exon7:c.789+1G>A)	unknown	UNKNOWN	0.999983677848485	0.944
18	33606863	T	A	18	36026900	y	n	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.A789T:p.E263D;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A681T:p.E227D;ENSG00000141425:ENST00000590898:exon7:c.A681T:p.E227D;ENSG00000141425:ENST00000319040:exon6:c.A789T:p.E263D;ENSG00000141425:ENST00000589050:exon6:c.A789T:p.E263D;ENSG00000141425:ENST00000399022:exon6:c.A789T:p.E263D;ENSG00000141425:ENST00000357384:exon6:c.A789T:p.E263D;ENSG00000141425:ENST00000588737:exon7:c.A681T:p.E227D;	0.00172957636505034	0.078
18	33606863	T	C	18	36026900	y	n	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon6:c.A789G:p.E263E;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A681G:p.E227E;ENSG00000141425:ENST00000590898:exon7:c.A681G:p.E227E;ENSG00000141425:ENST00000319040:exon6:c.A789G:p.E263E;ENSG00000141425:ENST00000589050:exon6:c.A789G:p.E263E;ENSG00000141425:ENST00000399022:exon6:c.A789G:p.E263E;ENSG00000141425:ENST00000357384:exon6:c.A789G:p.E263E;ENSG00000141425:ENST00000588737:exon7:c.A681G:p.E227E;	1.61563994755391E-4	0.004
18	33606863	T	G	18	36026900	y	n	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.A789C:p.E263D;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A681C:p.E227D;ENSG00000141425:ENST00000590898:exon7:c.A681C:p.E227D;ENSG00000141425:ENST00000319040:exon6:c.A789C:p.E263D;ENSG00000141425:ENST00000589050:exon6:c.A789C:p.E263D;ENSG00000141425:ENST00000399022:exon6:c.A789C:p.E263D;ENSG00000141425:ENST00000357384:exon6:c.A789C:p.E263D;ENSG00000141425:ENST00000588737:exon7:c.A681C:p.E227D;	0.00163000042091972	0.242
18	33606864	T	A	18	36026901	y	n	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.A788T:p.E263V;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A680T:p.E227V;ENSG00000141425:ENST00000590898:exon7:c.A680T:p.E227V;ENSG00000141425:ENST00000319040:exon6:c.A788T:p.E263V;ENSG00000141425:ENST00000589050:exon6:c.A788T:p.E263V;ENSG00000141425:ENST00000399022:exon6:c.A788T:p.E263V;ENSG00000141425:ENST00000357384:exon6:c.A788T:p.E263V;ENSG00000141425:ENST00000588737:exon7:c.A680T:p.E227V;	0.999953396150131	0.996
18	33606864	T	C	18	36026901	y	n	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.A788G:p.E263G;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A680G:p.E227G;ENSG00000141425:ENST00000590898:exon7:c.A680G:p.E227G;ENSG00000141425:ENST00000319040:exon6:c.A788G:p.E263G;ENSG00000141425:ENST00000589050:exon6:c.A788G:p.E263G;ENSG00000141425:ENST00000399022:exon6:c.A788G:p.E263G;ENSG00000141425:ENST00000357384:exon6:c.A788G:p.E263G;ENSG00000141425:ENST00000588737:exon7:c.A680G:p.E227G;	0.999954523346316	0.99
18	33606864	T	G	18	36026901	y	n	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.A788C:p.E263A;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A680C:p.E227A;ENSG00000141425:ENST00000590898:exon7:c.A680C:p.E227A;ENSG00000141425:ENST00000319040:exon6:c.A788C:p.E263A;ENSG00000141425:ENST00000589050:exon6:c.A788C:p.E263A;ENSG00000141425:ENST00000399022:exon6:c.A788C:p.E263A;ENSG00000141425:ENST00000357384:exon6:c.A788C:p.E263A;ENSG00000141425:ENST00000588737:exon7:c.A680C:p.E227A;	0.999785997250063	0.982
18	33606865	C	A	18	36026902	y	n	exonic	RPRD1A	stopgain SNV	RPRD1A:NM_018170:exon6:c.G787T:p.E263X;	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000337059:exon6:c.G679T:p.E227X;ENSG00000141425:ENST00000590898:exon7:c.G679T:p.E227X;ENSG00000141425:ENST00000319040:exon6:c.G787T:p.E263X;ENSG00000141425:ENST00000589050:exon6:c.G787T:p.E263X;ENSG00000141425:ENST00000399022:exon6:c.G787T:p.E263X;ENSG00000141425:ENST00000357384:exon6:c.G787T:p.E263X;ENSG00000141425:ENST00000588737:exon7:c.G679T:p.E227X;	0.98856864952244	0.744
18	33606865	C	G	18	36026902	y	n	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.G787C:p.E263Q;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.G679C:p.E227Q;ENSG00000141425:ENST00000590898:exon7:c.G679C:p.E227Q;ENSG00000141425:ENST00000319040:exon6:c.G787C:p.E263Q;ENSG00000141425:ENST00000589050:exon6:c.G787C:p.E263Q;ENSG00000141425:ENST00000399022:exon6:c.G787C:p.E263Q;ENSG00000141425:ENST00000357384:exon6:c.G787C:p.E263Q;ENSG00000141425:ENST00000588737:exon7:c.G679C:p.E227Q;	0.910974148570452	0.736
18	33606865	C	T	18	36026902	y	n	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.G787A:p.E263K;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.G679A:p.E227K;ENSG00000141425:ENST00000590898:exon7:c.G679A:p.E227K;ENSG00000141425:ENST00000319040:exon6:c.G787A:p.E263K;ENSG00000141425:ENST00000589050:exon6:c.G787A:p.E263K;ENSG00000141425:ENST00000399022:exon6:c.G787A:p.E263K;ENSG00000141425:ENST00000357384:exon6:c.G787A:p.E263K;ENSG00000141425:ENST00000588737:exon7:c.G679A:p.E227K;	0.920817604180404	0.766
18	33607037	A	C	18	36027074	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.T615G:p.D205E;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.T507G:p.D169E;ENSG00000141425:ENST00000590898:exon7:c.T507G:p.D169E;ENSG00000141425:ENST00000319040:exon6:c.T615G:p.D205E;ENSG00000141425:ENST00000589050:exon6:c.T615G:p.D205E;ENSG00000141425:ENST00000399022:exon6:c.T615G:p.D205E;ENSG00000141425:ENST00000357384:exon6:c.T615G:p.D205E;ENSG00000141425:ENST00000588737:exon7:c.T507G:p.D169E;	0.00672666908477492	0.084
18	33607037	A	G	18	36027074	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon6:c.T615C:p.D205D;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.T507C:p.D169D;ENSG00000141425:ENST00000590898:exon7:c.T507C:p.D169D;ENSG00000141425:ENST00000319040:exon6:c.T615C:p.D205D;ENSG00000141425:ENST00000589050:exon6:c.T615C:p.D205D;ENSG00000141425:ENST00000399022:exon6:c.T615C:p.D205D;ENSG00000141425:ENST00000357384:exon6:c.T615C:p.D205D;ENSG00000141425:ENST00000588737:exon7:c.T507C:p.D169D;	0.00143487500378661	0.038
18	33607037	A	T	18	36027074	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.T615A:p.D205E;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.T507A:p.D169E;ENSG00000141425:ENST00000590898:exon7:c.T507A:p.D169E;ENSG00000141425:ENST00000319040:exon6:c.T615A:p.D205E;ENSG00000141425:ENST00000589050:exon6:c.T615A:p.D205E;ENSG00000141425:ENST00000399022:exon6:c.T615A:p.D205E;ENSG00000141425:ENST00000357384:exon6:c.T615A:p.D205E;ENSG00000141425:ENST00000588737:exon7:c.T507A:p.D169E;	0.00672666908477492	0.104
18	33607038	T	A	18	36027075	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.A614T:p.D205V;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A506T:p.D169V;ENSG00000141425:ENST00000590898:exon7:c.A506T:p.D169V;ENSG00000141425:ENST00000319040:exon6:c.A614T:p.D205V;ENSG00000141425:ENST00000589050:exon6:c.A614T:p.D205V;ENSG00000141425:ENST00000399022:exon6:c.A614T:p.D205V;ENSG00000141425:ENST00000357384:exon6:c.A614T:p.D205V;ENSG00000141425:ENST00000588737:exon7:c.A506T:p.D169V;	0.498198497190781	0.494
18	33607038	T	C	18	36027075	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.A614G:p.D205G;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A506G:p.D169G;ENSG00000141425:ENST00000590898:exon7:c.A506G:p.D169G;ENSG00000141425:ENST00000319040:exon6:c.A614G:p.D205G;ENSG00000141425:ENST00000589050:exon6:c.A614G:p.D205G;ENSG00000141425:ENST00000399022:exon6:c.A614G:p.D205G;ENSG00000141425:ENST00000357384:exon6:c.A614G:p.D205G;ENSG00000141425:ENST00000588737:exon7:c.A506G:p.D169G;	0.573311799271632	0.646
18	33607038	T	G	18	36027075	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon6:c.A614C:p.D205A;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon6:c.A506C:p.D169A;ENSG00000141425:ENST00000590898:exon7:c.A506C:p.D169A;ENSG00000141425:ENST00000319040:exon6:c.A614C:p.D205A;ENSG00000141425:ENST00000589050:exon6:c.A614C:p.D205A;ENSG00000141425:ENST00000399022:exon6:c.A614C:p.D205A;ENSG00000141425:ENST00000357384:exon6:c.A614C:p.D205A;ENSG00000141425:ENST00000588737:exon7:c.A506C:p.D169A;	0.502851711471084	0.604
18	33607039	C	A	18	36027076	y	y	splicing	RPRD1A(NM_018170:exon7:c.614-1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon7:c.614-1G>T;ENST00000590898:exon8:c.506-1G>T;ENST00000337059:exon7:c.506-1G>T;ENST00000357384:exon7:c.614-1G>T;ENST00000588737:exon8:c.506-1G>T;ENST00000319040:exon7:c.614-1G>T;ENST00000585953:exon4:c.171-1G>T;ENST00000589050:exon7:c.614-1G>T)	.	.	0.999981760802075	0.944
18	33607039	C	G	18	36027076	y	y	splicing	RPRD1A(NM_018170:exon7:c.614-1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon7:c.614-1G>C;ENST00000590898:exon8:c.506-1G>C;ENST00000337059:exon7:c.506-1G>C;ENST00000357384:exon7:c.614-1G>C;ENST00000588737:exon8:c.506-1G>C;ENST00000319040:exon7:c.614-1G>C;ENST00000585953:exon4:c.171-1G>C;ENST00000589050:exon7:c.614-1G>C)	.	.	0.999981760802075	0.944
18	33607039	C	T	18	36027076	y	y	splicing	RPRD1A(NM_018170:exon7:c.614-1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon7:c.614-1G>A;ENST00000590898:exon8:c.506-1G>A;ENST00000337059:exon7:c.506-1G>A;ENST00000357384:exon7:c.614-1G>A;ENST00000588737:exon8:c.506-1G>A;ENST00000319040:exon7:c.614-1G>A;ENST00000585953:exon4:c.171-1G>A;ENST00000589050:exon7:c.614-1G>A)	.	.	0.999981760802075	0.944
18	33607040	T	A	18	36027077	y	y	splicing	RPRD1A(NM_018170:exon7:c.614-2A>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon7:c.614-2A>T;ENST00000590898:exon8:c.506-2A>T;ENST00000337059:exon7:c.506-2A>T;ENST00000357384:exon7:c.614-2A>T;ENST00000588737:exon8:c.506-2A>T;ENST00000319040:exon7:c.614-2A>T;ENST00000585953:exon4:c.171-2A>T;ENST00000589050:exon7:c.614-2A>T)	.	.	0.999989917668626	0.928
18	33607040	T	C	18	36027077	y	y	splicing	RPRD1A(NM_018170:exon7:c.614-2A>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon7:c.614-2A>G;ENST00000590898:exon8:c.506-2A>G;ENST00000337059:exon7:c.506-2A>G;ENST00000357384:exon7:c.614-2A>G;ENST00000588737:exon8:c.506-2A>G;ENST00000319040:exon7:c.614-2A>G;ENST00000585953:exon4:c.171-2A>G;ENST00000589050:exon7:c.614-2A>G)	.	.	0.999989917668626	0.928
18	33607040	T	G	18	36027077	y	y	splicing	RPRD1A(NM_018170:exon7:c.614-2A>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon7:c.614-2A>C;ENST00000590898:exon8:c.506-2A>C;ENST00000337059:exon7:c.506-2A>C;ENST00000357384:exon7:c.614-2A>C;ENST00000588737:exon8:c.506-2A>C;ENST00000319040:exon7:c.614-2A>C;ENST00000585953:exon4:c.171-2A>C;ENST00000589050:exon7:c.614-2A>C)	.	.	0.999989917668626	0.928
18	33607041	A	C	18	36027078	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999634377510953	0.932
18	33607041	A	G	18	36027078	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00188192481504247	0.042
18	33607041	A	T	18	36027078	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.86699688563019	0.648
18	33607042	A	C	18	36027079	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.6011819837113E-4	0.008
18	33607042	A	G	18	36027079	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.84750162329057E-5	0.01
18	33607042	A	T	18	36027079	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.53921535495669E-4	0.014
18	33607043	G	A	18	36027080	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.23603440839623E-4	0.01
18	33607043	G	C	18	36027080	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0177245479010682	0.11
18	33607043	G	T	18	36027080	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00942564168555902	0.116
18	33607044	A	C	18	36027081	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.906374629974806	0.73
18	33607044	A	G	18	36027081	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00316117982444647	0.024
18	33607044	A	T	18	36027081	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.943181629500534	0.724
18	33607045	A	C	18	36027082	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00492377215679161	0.122
18	33607045	A	G	18	36027082	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.51899358205175E-4	0.082
18	33607045	A	T	18	36027082	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00837519077292701	0.124
18	33607046	A	C	18	36027083	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.269765121389874	0.344
18	33607046	A	G	18	36027083	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0027508200934701	0.068
18	33607046	A	T	18	36027083	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.746987326098007	0.62
18	33607047	A	C	18	36027084	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.697608438098628	0.476
18	33607047	A	G	18	36027084	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00137066934911346	0.044
18	33607047	A	T	18	36027084	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.83767998537435	0.666
18	33607048	G	A	18	36027085	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00172941955696585	0.05
18	33607048	G	C	18	36027085	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0039293282127065	0.098
18	33607048	G	T	18	36027085	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00835683733294366	0.192
18	33607049	C	A	18	36027086	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0171463632006278	0.332
18	33607049	C	G	18	36027086	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0145972365763761	0.254
18	33607049	C	T	18	36027086	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.144704975735545	0.242
18	33607050	A	C	18	36027087	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.998188280281654	0.824
18	33607050	A	G	18	36027087	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.214237454100258	0.376
18	33607050	A	T	18	36027087	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999971825715	0.964
18	33607139	T	A	18	36027176	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.7586829694842E-5	0.0
18	33607139	T	C	18	36027176	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.7586829694842E-5	0.0
18	33607139	T	G	18	36027176	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.7586829694842E-5	0.0
18	33607140	T	A	18	36027177	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.75178917897608E-5	0.0
18	33607140	T	C	18	36027177	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.75178917897608E-5	0.0
18	33607140	T	G	18	36027177	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.11713759611921E-5	0.0
18	33607141	T	A	18	36027178	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.32426929095678E-5	0.004
18	33607141	T	C	18	36027178	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.57717451481632E-5	0.0
18	33607141	T	G	18	36027178	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.65100207355479E-5	0.012
18	33607142	C	A	18	36027179	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.707310264361592	0.478
18	33607142	C	G	18	36027179	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.766078509073909	0.532
18	33607142	C	T	18	36027179	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.747730138337098	0.56
18	33607143	T	A	18	36027180	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.408174899431037	0.508
18	33607143	T	C	18	36027180	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.516324842727085	0.408
18	33607143	T	G	18	36027180	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.405792238608923	0.504
18	33607144	T	A	18	36027181	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.876303620430223	0.45
18	33607144	T	C	18	36027181	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.01040090563497E-4	0.094
18	33607144	T	G	18	36027181	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.663548435701277	0.496
18	33607145	A	C	18	36027182	y	y	splicing	RPRD1A(NM_018170:exon6:c.613+2T>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.613+2T>G;ENST00000590898:exon7:c.505+2T>G;ENST00000337059:exon6:c.505+2T>G;ENST00000357384:exon6:c.613+2T>G;ENST00000588737:exon7:c.505+2T>G;ENST00000319040:exon6:c.613+2T>G;ENST00000585953:exon3:c.170+2T>G;ENST00000589050:exon6:c.613+2T>G)	.	.	0.999989917668626	0.924
18	33607145	A	G	18	36027182	y	y	splicing	RPRD1A(NM_018170:exon6:c.613+2T>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.613+2T>C;ENST00000590898:exon7:c.505+2T>C;ENST00000337059:exon6:c.505+2T>C;ENST00000357384:exon6:c.613+2T>C;ENST00000588737:exon7:c.505+2T>C;ENST00000319040:exon6:c.613+2T>C;ENST00000585953:exon3:c.170+2T>C;ENST00000589050:exon6:c.613+2T>C)	.	.	0.988809971481602	0.62
18	33607145	A	T	18	36027182	y	y	splicing	RPRD1A(NM_018170:exon6:c.613+2T>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.613+2T>A;ENST00000590898:exon7:c.505+2T>A;ENST00000337059:exon6:c.505+2T>A;ENST00000357384:exon6:c.613+2T>A;ENST00000588737:exon7:c.505+2T>A;ENST00000319040:exon6:c.613+2T>A;ENST00000585953:exon3:c.170+2T>A;ENST00000589050:exon6:c.613+2T>A)	.	.	0.999989917668626	0.926
18	33607146	C	A	18	36027183	y	y	splicing	RPRD1A(NM_018170:exon6:c.613+1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.613+1G>T;ENST00000590898:exon7:c.505+1G>T;ENST00000337059:exon6:c.505+1G>T;ENST00000357384:exon6:c.613+1G>T;ENST00000588737:exon7:c.505+1G>T;ENST00000319040:exon6:c.613+1G>T;ENST00000585953:exon3:c.170+1G>T;ENST00000589050:exon6:c.613+1G>T)	.	.	0.999981760802075	0.942
18	33607146	C	G	18	36027183	y	y	splicing	RPRD1A(NM_018170:exon6:c.613+1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.613+1G>C;ENST00000590898:exon7:c.505+1G>C;ENST00000337059:exon6:c.505+1G>C;ENST00000357384:exon6:c.613+1G>C;ENST00000588737:exon7:c.505+1G>C;ENST00000319040:exon6:c.613+1G>C;ENST00000585953:exon3:c.170+1G>C;ENST00000589050:exon6:c.613+1G>C)	.	.	0.999981760802075	0.942
18	33607146	C	T	18	36027183	y	y	splicing	RPRD1A(NM_018170:exon6:c.613+1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.613+1G>A;ENST00000590898:exon7:c.505+1G>A;ENST00000337059:exon6:c.505+1G>A;ENST00000357384:exon6:c.613+1G>A;ENST00000588737:exon7:c.505+1G>A;ENST00000319040:exon6:c.613+1G>A;ENST00000585953:exon3:c.170+1G>A;ENST00000589050:exon6:c.613+1G>A)	.	.	0.999981760802075	0.942
18	33607147	C	A	18	36027184	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.G613T:p.D205Y;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.G505T:p.D169Y;ENSG00000141425:ENST00000590898:exon6:c.G505T:p.D169Y;ENSG00000141425:ENST00000319040:exon5:c.G613T:p.D205Y;ENSG00000141425:ENST00000589050:exon5:c.G613T:p.D205Y;ENSG00000141425:ENST00000399022:exon5:c.G613T:p.D205Y;ENSG00000141425:ENST00000357384:exon5:c.G613T:p.D205Y;ENSG00000141425:ENST00000588737:exon6:c.G505T:p.D169Y;	0.999771496665339	0.972
18	33607147	C	G	18	36027184	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.G613C:p.D205H;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.G505C:p.D169H;ENSG00000141425:ENST00000590898:exon6:c.G505C:p.D169H;ENSG00000141425:ENST00000319040:exon5:c.G613C:p.D205H;ENSG00000141425:ENST00000589050:exon5:c.G613C:p.D205H;ENSG00000141425:ENST00000399022:exon5:c.G613C:p.D205H;ENSG00000141425:ENST00000357384:exon5:c.G613C:p.D205H;ENSG00000141425:ENST00000588737:exon6:c.G505C:p.D169H;	0.999953567831803	0.96
18	33607147	C	T	18	36027184	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.G613A:p.D205N;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.G505A:p.D169N;ENSG00000141425:ENST00000590898:exon6:c.G505A:p.D169N;ENSG00000141425:ENST00000319040:exon5:c.G613A:p.D205N;ENSG00000141425:ENST00000589050:exon5:c.G613A:p.D205N;ENSG00000141425:ENST00000399022:exon5:c.G613A:p.D205N;ENSG00000141425:ENST00000357384:exon5:c.G613A:p.D205N;ENSG00000141425:ENST00000588737:exon6:c.G505A:p.D169N;	0.99989025949321	0.99
18	33607148	T	A	18	36027185	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon5:c.A612T:p.T204T;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.A504T:p.T168T;ENSG00000141425:ENST00000590898:exon6:c.A504T:p.T168T;ENSG00000141425:ENST00000319040:exon5:c.A612T:p.T204T;ENSG00000141425:ENST00000589050:exon5:c.A612T:p.T204T;ENSG00000141425:ENST00000399022:exon5:c.A612T:p.T204T;ENSG00000141425:ENST00000357384:exon5:c.A612T:p.T204T;ENSG00000141425:ENST00000588737:exon6:c.A504T:p.T168T;	0.144178887308483	0.43
18	33607148	T	C	18	36027185	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon5:c.A612G:p.T204T;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.A504G:p.T168T;ENSG00000141425:ENST00000590898:exon6:c.A504G:p.T168T;ENSG00000141425:ENST00000319040:exon5:c.A612G:p.T204T;ENSG00000141425:ENST00000589050:exon5:c.A612G:p.T204T;ENSG00000141425:ENST00000399022:exon5:c.A612G:p.T204T;ENSG00000141425:ENST00000357384:exon5:c.A612G:p.T204T;ENSG00000141425:ENST00000588737:exon6:c.A504G:p.T168T;	0.159421317219905	0.286
18	33607148	T	G	18	36027185	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon5:c.A612C:p.T204T;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.A504C:p.T168T;ENSG00000141425:ENST00000590898:exon6:c.A504C:p.T168T;ENSG00000141425:ENST00000319040:exon5:c.A612C:p.T204T;ENSG00000141425:ENST00000589050:exon5:c.A612C:p.T204T;ENSG00000141425:ENST00000399022:exon5:c.A612C:p.T204T;ENSG00000141425:ENST00000357384:exon5:c.A612C:p.T204T;ENSG00000141425:ENST00000588737:exon6:c.A504C:p.T168T;	0.106757595505723	0.45
18	33607149	G	A	18	36027186	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.C611T:p.T204I;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.C503T:p.T168I;ENSG00000141425:ENST00000590898:exon6:c.C503T:p.T168I;ENSG00000141425:ENST00000319040:exon5:c.C611T:p.T204I;ENSG00000141425:ENST00000589050:exon5:c.C611T:p.T204I;ENSG00000141425:ENST00000399022:exon5:c.C611T:p.T204I;ENSG00000141425:ENST00000357384:exon5:c.C611T:p.T204I;ENSG00000141425:ENST00000588737:exon6:c.C503T:p.T168I;	0.993115203887796	0.61
18	33607149	G	C	18	36027186	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.C611G:p.T204R;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.C503G:p.T168R;ENSG00000141425:ENST00000590898:exon6:c.C503G:p.T168R;ENSG00000141425:ENST00000319040:exon5:c.C611G:p.T204R;ENSG00000141425:ENST00000589050:exon5:c.C611G:p.T204R;ENSG00000141425:ENST00000399022:exon5:c.C611G:p.T204R;ENSG00000141425:ENST00000357384:exon5:c.C611G:p.T204R;ENSG00000141425:ENST00000588737:exon6:c.C503G:p.T168R;	0.510168957697671	0.492
18	33607149	G	T	18	36027186	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.C611A:p.T204K;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.C503A:p.T168K;ENSG00000141425:ENST00000590898:exon6:c.C503A:p.T168K;ENSG00000141425:ENST00000319040:exon5:c.C611A:p.T204K;ENSG00000141425:ENST00000589050:exon5:c.C611A:p.T204K;ENSG00000141425:ENST00000399022:exon5:c.C611A:p.T204K;ENSG00000141425:ENST00000357384:exon5:c.C611A:p.T204K;ENSG00000141425:ENST00000588737:exon6:c.C503A:p.T168K;	0.0150878754544348	0.108
18	33607272	G	A	18	36027309	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.C488T:p.T163I;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.C380T:p.T127I;ENSG00000141425:ENST00000590898:exon6:c.C380T:p.T127I;ENSG00000141425:ENST00000319040:exon5:c.C488T:p.T163I;ENSG00000141425:ENST00000589050:exon5:c.C488T:p.T163I;ENSG00000141425:ENST00000399022:exon5:c.C488T:p.T163I;ENSG00000141425:ENST00000357384:exon5:c.C488T:p.T163I;ENSG00000141425:ENST00000588737:exon6:c.C380T:p.T127I;	0.471397692171956	0.542
18	33607272	G	C	18	36027309	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.C488G:p.T163S;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.C380G:p.T127S;ENSG00000141425:ENST00000590898:exon6:c.C380G:p.T127S;ENSG00000141425:ENST00000319040:exon5:c.C488G:p.T163S;ENSG00000141425:ENST00000589050:exon5:c.C488G:p.T163S;ENSG00000141425:ENST00000399022:exon5:c.C488G:p.T163S;ENSG00000141425:ENST00000357384:exon5:c.C488G:p.T163S;ENSG00000141425:ENST00000588737:exon6:c.C380G:p.T127S;	0.744089768732695	0.544
18	33607272	G	T	18	36027309	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.C488A:p.T163N;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.C380A:p.T127N;ENSG00000141425:ENST00000590898:exon6:c.C380A:p.T127N;ENSG00000141425:ENST00000319040:exon5:c.C488A:p.T163N;ENSG00000141425:ENST00000589050:exon5:c.C488A:p.T163N;ENSG00000141425:ENST00000399022:exon5:c.C488A:p.T163N;ENSG00000141425:ENST00000357384:exon5:c.C488A:p.T163N;ENSG00000141425:ENST00000588737:exon6:c.C380A:p.T127N;	0.98337940660512	0.718
18	33607273	T	A	18	36027310	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.A487T:p.T163S;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.A379T:p.T127S;ENSG00000141425:ENST00000590898:exon6:c.A379T:p.T127S;ENSG00000141425:ENST00000319040:exon5:c.A487T:p.T163S;ENSG00000141425:ENST00000589050:exon5:c.A487T:p.T163S;ENSG00000141425:ENST00000399022:exon5:c.A487T:p.T163S;ENSG00000141425:ENST00000357384:exon5:c.A487T:p.T163S;ENSG00000141425:ENST00000588737:exon6:c.A379T:p.T127S;	0.210255493272115	0.472
18	33607273	T	C	18	36027310	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.A487G:p.T163A;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.A379G:p.T127A;ENSG00000141425:ENST00000590898:exon6:c.A379G:p.T127A;ENSG00000141425:ENST00000319040:exon5:c.A487G:p.T163A;ENSG00000141425:ENST00000589050:exon5:c.A487G:p.T163A;ENSG00000141425:ENST00000399022:exon5:c.A487G:p.T163A;ENSG00000141425:ENST00000357384:exon5:c.A487G:p.T163A;ENSG00000141425:ENST00000588737:exon6:c.A379G:p.T127A;	0.00369662256583575	0.062
18	33607273	T	G	18	36027310	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon5:c.A487C:p.T163P;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon5:c.A379C:p.T127P;ENSG00000141425:ENST00000590898:exon6:c.A379C:p.T127P;ENSG00000141425:ENST00000319040:exon5:c.A487C:p.T163P;ENSG00000141425:ENST00000589050:exon5:c.A487C:p.T163P;ENSG00000141425:ENST00000399022:exon5:c.A487C:p.T163P;ENSG00000141425:ENST00000357384:exon5:c.A487C:p.T163P;ENSG00000141425:ENST00000588737:exon6:c.A379C:p.T127P;	0.149952846079302	0.256
18	33607274	C	A	18	36027311	y	y	splicing	RPRD1A(NM_018170:exon6:c.487-1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.487-1G>T;ENST00000590898:exon7:c.379-1G>T;ENST00000337059:exon6:c.379-1G>T;ENST00000357384:exon6:c.487-1G>T;ENST00000588737:exon7:c.379-1G>T;ENST00000319040:exon6:c.487-1G>T;ENST00000585953:exon3:c.44-1G>T;ENST00000589050:exon6:c.487-1G>T)	.	.	0.999981760802075	0.944
18	33607274	C	G	18	36027311	y	y	splicing	RPRD1A(NM_018170:exon6:c.487-1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.487-1G>C;ENST00000590898:exon7:c.379-1G>C;ENST00000337059:exon6:c.379-1G>C;ENST00000357384:exon6:c.487-1G>C;ENST00000588737:exon7:c.379-1G>C;ENST00000319040:exon6:c.487-1G>C;ENST00000585953:exon3:c.44-1G>C;ENST00000589050:exon6:c.487-1G>C)	.	.	0.999981760802075	0.944
18	33607274	C	T	18	36027311	y	y	splicing	RPRD1A(NM_018170:exon6:c.487-1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.487-1G>A;ENST00000590898:exon7:c.379-1G>A;ENST00000337059:exon6:c.379-1G>A;ENST00000357384:exon6:c.487-1G>A;ENST00000588737:exon7:c.379-1G>A;ENST00000319040:exon6:c.487-1G>A;ENST00000585953:exon3:c.44-1G>A;ENST00000589050:exon6:c.487-1G>A)	.	.	0.999981760802075	0.944
18	33607275	T	A	18	36027312	y	y	splicing	RPRD1A(NM_018170:exon6:c.487-2A>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.487-2A>T;ENST00000590898:exon7:c.379-2A>T;ENST00000337059:exon6:c.379-2A>T;ENST00000357384:exon6:c.487-2A>T;ENST00000588737:exon7:c.379-2A>T;ENST00000319040:exon6:c.487-2A>T;ENST00000585953:exon3:c.44-2A>T;ENST00000589050:exon6:c.487-2A>T)	.	.	0.999989917668626	0.928
18	33607275	T	C	18	36027312	y	y	splicing	RPRD1A(NM_018170:exon6:c.487-2A>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.487-2A>G;ENST00000590898:exon7:c.379-2A>G;ENST00000337059:exon6:c.379-2A>G;ENST00000357384:exon6:c.487-2A>G;ENST00000588737:exon7:c.379-2A>G;ENST00000319040:exon6:c.487-2A>G;ENST00000585953:exon3:c.44-2A>G;ENST00000589050:exon6:c.487-2A>G)	.	.	0.999989917668626	0.928
18	33607275	T	G	18	36027312	y	y	splicing	RPRD1A(NM_018170:exon6:c.487-2A>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon6:c.487-2A>C;ENST00000590898:exon7:c.379-2A>C;ENST00000337059:exon6:c.379-2A>C;ENST00000357384:exon6:c.487-2A>C;ENST00000588737:exon7:c.379-2A>C;ENST00000319040:exon6:c.487-2A>C;ENST00000585953:exon3:c.44-2A>C;ENST00000589050:exon6:c.487-2A>C)	.	.	0.999989917668626	0.928
18	33607276	A	C	18	36027313	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999065616328089	0.772
18	33607276	A	G	18	36027313	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.04771956824342E-4	0.03
18	33607276	A	T	18	36027313	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.431699489443562	0.502
18	33607277	A	C	18	36027314	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00669440776967451	0.062
18	33607277	A	G	18	36027314	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00352110228744519	0.044
18	33607277	A	T	18	36027314	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00508400623205114	0.134
18	33607278	A	C	18	36027315	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.99962574213175	0.812
18	33607278	A	G	18	36027315	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0235261768289133	0.214
18	33607278	A	T	18	36027315	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999263843298257	0.88
18	33607279	A	C	18	36027316	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.995209760763873	0.824
18	33607279	A	G	18	36027316	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.96759309980575E-4	0.058
18	33607279	A	T	18	36027316	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.993665552114997	0.818
18	33607280	A	C	18	36027317	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0110166319901274	0.202
18	33607280	A	G	18	36027317	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.66455579767474E-4	0.014
18	33607280	A	T	18	36027317	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0117768380503066	0.216
18	33607281	G	A	18	36027318	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.24794004733102E-4	0.04
18	33607281	G	C	18	36027318	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999882186805567	0.97
18	33607281	G	T	18	36027318	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0133769018775281	0.092
18	33607282	T	A	18	36027319	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0483301141136157	0.266
18	33607282	T	C	18	36027319	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0295598469211787	0.204
18	33607282	T	G	18	36027319	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0483301141136157	0.314
18	33607283	A	C	18	36027320	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.998105359741061	0.866
18	33607283	A	G	18	36027320	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0326061419282862	0.252
18	33607283	A	T	18	36027320	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.99676610959539	0.84
18	33607284	C	A	18	36027321	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.24399265333855E-5	0.09
18	33607284	C	G	18	36027321	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.37342498560505E-4	0.098
18	33607284	C	T	18	36027321	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.47437029760505E-5	0.146
18	33607285	A	C	18	36027322	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.997796438741416	0.86
18	33607285	A	G	18	36027322	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0152963688740083	0.122
18	33607285	A	T	18	36027322	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999987345408084	0.964
18	33610763	A	C	18	36030800	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.87776092815945E-4	0.016
18	33610763	A	G	18	36030800	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.6276220982096E-4	0.024
18	33610763	A	T	18	36030800	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00171851997282737	0.016
18	33610764	T	A	18	36030801	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.01357016463687E-5	0.002
18	33610764	T	C	18	36030801	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.71597926780483E-5	0.0
18	33610764	T	G	18	36030801	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.71597926780483E-5	0.0
18	33610765	T	A	18	36030802	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.13802331258246E-5	0.008
18	33610765	T	C	18	36030802	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.81021003845908E-5	0.004
18	33610765	T	G	18	36030802	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.01311890466558E-4	0.058
18	33610766	T	A	18	36030803	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.65796902488585E-4	0.006
18	33610766	T	C	18	36030803	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.66530681289588E-4	0.124
18	33610766	T	G	18	36030803	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.68878400462979E-4	0.01
18	33610767	C	A	18	36030804	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.53714480985358E-4	0.02
18	33610767	C	G	18	36030804	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.36857651452679E-4	0.046
18	33610767	C	T	18	36030804	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.59462412162976E-4	0.04
18	33610768	T	A	18	36030805	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999952610094528	0.958
18	33610768	T	C	18	36030805	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.998347111194786	0.892
18	33610768	T	G	18	36030805	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999970732260253	0.946
18	33610769	A	C	18	36030806	y	y	splicing	RPRD1A(NM_018170:exon5:c.486+2T>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.486+2T>G;ENST00000590898:exon6:c.378+2T>G;ENST00000337059:exon5:c.378+2T>G;ENST00000357384:exon5:c.486+2T>G;ENST00000588737:exon6:c.378+2T>G;ENST00000319040:exon5:c.486+2T>G;ENST00000585953:exon2:c.43+2T>G;ENST00000589050:exon5:c.486+2T>G)	.	.	0.999988247793601	0.928
18	33610769	A	G	18	36030806	y	y	splicing	RPRD1A(NM_018170:exon5:c.486+2T>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.486+2T>C;ENST00000590898:exon6:c.378+2T>C;ENST00000337059:exon5:c.378+2T>C;ENST00000357384:exon5:c.486+2T>C;ENST00000588737:exon6:c.378+2T>C;ENST00000319040:exon5:c.486+2T>C;ENST00000585953:exon2:c.43+2T>C;ENST00000589050:exon5:c.486+2T>C)	.	.	0.992577803696025	0.634
18	33610769	A	T	18	36030806	y	y	splicing	RPRD1A(NM_018170:exon5:c.486+2T>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.486+2T>A;ENST00000590898:exon6:c.378+2T>A;ENST00000337059:exon5:c.378+2T>A;ENST00000357384:exon5:c.486+2T>A;ENST00000588737:exon6:c.378+2T>A;ENST00000319040:exon5:c.486+2T>A;ENST00000585953:exon2:c.43+2T>A;ENST00000589050:exon5:c.486+2T>A)	.	.	0.999988247793601	0.928
18	33610770	C	A	18	36030807	y	y	splicing	RPRD1A(NM_018170:exon5:c.486+1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.486+1G>T;ENST00000590898:exon6:c.378+1G>T;ENST00000337059:exon5:c.378+1G>T;ENST00000357384:exon5:c.486+1G>T;ENST00000588737:exon6:c.378+1G>T;ENST00000319040:exon5:c.486+1G>T;ENST00000585953:exon2:c.43+1G>T;ENST00000589050:exon5:c.486+1G>T)	.	.	0.999981760802075	0.938
18	33610770	C	G	18	36030807	y	y	splicing	RPRD1A(NM_018170:exon5:c.486+1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.486+1G>C;ENST00000590898:exon6:c.378+1G>C;ENST00000337059:exon5:c.378+1G>C;ENST00000357384:exon5:c.486+1G>C;ENST00000588737:exon6:c.378+1G>C;ENST00000319040:exon5:c.486+1G>C;ENST00000585953:exon2:c.43+1G>C;ENST00000589050:exon5:c.486+1G>C)	.	.	0.999981760802075	0.936
18	33610770	C	T	18	36030807	y	y	splicing	RPRD1A(NM_018170:exon5:c.486+1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.486+1G>A;ENST00000590898:exon6:c.378+1G>A;ENST00000337059:exon5:c.378+1G>A;ENST00000357384:exon5:c.486+1G>A;ENST00000588737:exon6:c.378+1G>A;ENST00000319040:exon5:c.486+1G>A;ENST00000585953:exon2:c.43+1G>A;ENST00000589050:exon5:c.486+1G>A)	.	.	0.999981760802075	0.938
18	33610771	C	A	18	36030808	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.G486T:p.Q162H;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.G378T:p.Q126H;ENSG00000141425:ENST00000590898:exon5:c.G378T:p.Q126H;ENSG00000141425:ENST00000319040:exon4:c.G486T:p.Q162H;ENSG00000141425:ENST00000589050:exon4:c.G486T:p.Q162H;ENSG00000141425:ENST00000399022:exon4:c.G486T:p.Q162H;ENSG00000141425:ENST00000357384:exon4:c.G486T:p.Q162H;ENSG00000141425:ENST00000588737:exon5:c.G378T:p.Q126H;	0.999991042753884	0.998
18	33610771	C	G	18	36030808	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.G486C:p.Q162H;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.G378C:p.Q126H;ENSG00000141425:ENST00000590898:exon5:c.G378C:p.Q126H;ENSG00000141425:ENST00000319040:exon4:c.G486C:p.Q162H;ENSG00000141425:ENST00000589050:exon4:c.G486C:p.Q162H;ENSG00000141425:ENST00000399022:exon4:c.G486C:p.Q162H;ENSG00000141425:ENST00000357384:exon4:c.G486C:p.Q162H;ENSG00000141425:ENST00000588737:exon5:c.G378C:p.Q126H;	0.99999675263713	0.998
18	33610771	C	T	18	36030808	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon4:c.G486A:p.Q162Q;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.G378A:p.Q126Q;ENSG00000141425:ENST00000590898:exon5:c.G378A:p.Q126Q;ENSG00000141425:ENST00000319040:exon4:c.G486A:p.Q162Q;ENSG00000141425:ENST00000589050:exon4:c.G486A:p.Q162Q;ENSG00000141425:ENST00000399022:exon4:c.G486A:p.Q162Q;ENSG00000141425:ENST00000357384:exon4:c.G486A:p.Q162Q;ENSG00000141425:ENST00000588737:exon5:c.G378A:p.Q126Q;	0.999958355002688	0.996
18	33610772	T	A	18	36030809	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.A485T:p.Q162L;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.A377T:p.Q126L;ENSG00000141425:ENST00000590898:exon5:c.A377T:p.Q126L;ENSG00000141425:ENST00000319040:exon4:c.A485T:p.Q162L;ENSG00000141425:ENST00000589050:exon4:c.A485T:p.Q162L;ENSG00000141425:ENST00000399022:exon4:c.A485T:p.Q162L;ENSG00000141425:ENST00000357384:exon4:c.A485T:p.Q162L;ENSG00000141425:ENST00000588737:exon5:c.A377T:p.Q126L;	0.999822038599288	0.978
18	33610772	T	C	18	36030809	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.A485G:p.Q162R;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.A377G:p.Q126R;ENSG00000141425:ENST00000590898:exon5:c.A377G:p.Q126R;ENSG00000141425:ENST00000319040:exon4:c.A485G:p.Q162R;ENSG00000141425:ENST00000589050:exon4:c.A485G:p.Q162R;ENSG00000141425:ENST00000399022:exon4:c.A485G:p.Q162R;ENSG00000141425:ENST00000357384:exon4:c.A485G:p.Q162R;ENSG00000141425:ENST00000588737:exon5:c.A377G:p.Q126R;	0.999697344043583	0.996
18	33610772	T	G	18	36030809	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.A485C:p.Q162P;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.A377C:p.Q126P;ENSG00000141425:ENST00000590898:exon5:c.A377C:p.Q126P;ENSG00000141425:ENST00000319040:exon4:c.A485C:p.Q162P;ENSG00000141425:ENST00000589050:exon4:c.A485C:p.Q162P;ENSG00000141425:ENST00000399022:exon4:c.A485C:p.Q162P;ENSG00000141425:ENST00000357384:exon4:c.A485C:p.Q162P;ENSG00000141425:ENST00000588737:exon5:c.A377C:p.Q126P;	0.999917460616648	1.0
18	33610773	G	A	18	36030810	y	y	exonic	RPRD1A	stopgain SNV	RPRD1A:NM_018170:exon4:c.C484T:p.Q162X;	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000337059:exon4:c.C376T:p.Q126X;ENSG00000141425:ENST00000590898:exon5:c.C376T:p.Q126X;ENSG00000141425:ENST00000319040:exon4:c.C484T:p.Q162X;ENSG00000141425:ENST00000589050:exon4:c.C484T:p.Q162X;ENSG00000141425:ENST00000399022:exon4:c.C484T:p.Q162X;ENSG00000141425:ENST00000357384:exon4:c.C484T:p.Q162X;ENSG00000141425:ENST00000588737:exon5:c.C376T:p.Q126X;	0.99982404544547	0.982
18	33610773	G	C	18	36030810	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.C484G:p.Q162E;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.C376G:p.Q126E;ENSG00000141425:ENST00000590898:exon5:c.C376G:p.Q126E;ENSG00000141425:ENST00000319040:exon4:c.C484G:p.Q162E;ENSG00000141425:ENST00000589050:exon4:c.C484G:p.Q162E;ENSG00000141425:ENST00000399022:exon4:c.C484G:p.Q162E;ENSG00000141425:ENST00000357384:exon4:c.C484G:p.Q162E;ENSG00000141425:ENST00000588737:exon5:c.C376G:p.Q126E;	0.0761676534514528	0.412
18	33610773	G	T	18	36030810	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.C484A:p.Q162K;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.C376A:p.Q126K;ENSG00000141425:ENST00000590898:exon5:c.C376A:p.Q126K;ENSG00000141425:ENST00000319040:exon4:c.C484A:p.Q162K;ENSG00000141425:ENST00000589050:exon4:c.C484A:p.Q162K;ENSG00000141425:ENST00000399022:exon4:c.C484A:p.Q162K;ENSG00000141425:ENST00000357384:exon4:c.C484A:p.Q162K;ENSG00000141425:ENST00000588737:exon5:c.C376A:p.Q126K;	0.0144274527997323	0.132
18	33610867	A	C	18	36030904	y	y	exonic	RPRD1A	stopgain SNV	RPRD1A:NM_018170:exon4:c.T390G:p.Y130X;	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000337059:exon4:c.T282G:p.Y94X;ENSG00000141425:ENST00000590898:exon5:c.T282G:p.Y94X;ENSG00000141425:ENST00000319040:exon4:c.T390G:p.Y130X;ENSG00000141425:ENST00000589050:exon4:c.T390G:p.Y130X;ENSG00000141425:ENST00000399022:exon4:c.T390G:p.Y130X;ENSG00000141425:ENST00000357384:exon4:c.T390G:p.Y130X;ENSG00000141425:ENST00000588737:exon5:c.T282G:p.Y94X;	0.0109735699206583	0.24
18	33610867	A	G	18	36030904	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon4:c.T390C:p.Y130Y;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.T282C:p.Y94Y;ENSG00000141425:ENST00000590898:exon5:c.T282C:p.Y94Y;ENSG00000141425:ENST00000319040:exon4:c.T390C:p.Y130Y;ENSG00000141425:ENST00000589050:exon4:c.T390C:p.Y130Y;ENSG00000141425:ENST00000399022:exon4:c.T390C:p.Y130Y;ENSG00000141425:ENST00000357384:exon4:c.T390C:p.Y130Y;ENSG00000141425:ENST00000588737:exon5:c.T282C:p.Y94Y;	0.00363169690810527	0.076
18	33610867	A	T	18	36030904	y	y	exonic	RPRD1A	stopgain SNV	RPRD1A:NM_018170:exon4:c.T390A:p.Y130X;	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000337059:exon4:c.T282A:p.Y94X;ENSG00000141425:ENST00000590898:exon5:c.T282A:p.Y94X;ENSG00000141425:ENST00000319040:exon4:c.T390A:p.Y130X;ENSG00000141425:ENST00000589050:exon4:c.T390A:p.Y130X;ENSG00000141425:ENST00000399022:exon4:c.T390A:p.Y130X;ENSG00000141425:ENST00000357384:exon4:c.T390A:p.Y130X;ENSG00000141425:ENST00000588737:exon5:c.T282A:p.Y94X;	0.0172444403984462	0.282
18	33610868	T	A	18	36030905	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.A389T:p.Y130F;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.A281T:p.Y94F;ENSG00000141425:ENST00000590898:exon5:c.A281T:p.Y94F;ENSG00000141425:ENST00000319040:exon4:c.A389T:p.Y130F;ENSG00000141425:ENST00000589050:exon4:c.A389T:p.Y130F;ENSG00000141425:ENST00000399022:exon4:c.A389T:p.Y130F;ENSG00000141425:ENST00000357384:exon4:c.A389T:p.Y130F;ENSG00000141425:ENST00000588737:exon5:c.A281T:p.Y94F;	0.00318251934209128	0.122
18	33610868	T	C	18	36030905	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.A389G:p.Y130C;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.A281G:p.Y94C;ENSG00000141425:ENST00000590898:exon5:c.A281G:p.Y94C;ENSG00000141425:ENST00000319040:exon4:c.A389G:p.Y130C;ENSG00000141425:ENST00000589050:exon4:c.A389G:p.Y130C;ENSG00000141425:ENST00000399022:exon4:c.A389G:p.Y130C;ENSG00000141425:ENST00000357384:exon4:c.A389G:p.Y130C;ENSG00000141425:ENST00000588737:exon5:c.A281G:p.Y94C;	0.476125962145169	0.508
18	33610868	T	G	18	36030905	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon4:c.A389C:p.Y130S;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon4:c.A281C:p.Y94S;ENSG00000141425:ENST00000590898:exon5:c.A281C:p.Y94S;ENSG00000141425:ENST00000319040:exon4:c.A389C:p.Y130S;ENSG00000141425:ENST00000589050:exon4:c.A389C:p.Y130S;ENSG00000141425:ENST00000399022:exon4:c.A389C:p.Y130S;ENSG00000141425:ENST00000357384:exon4:c.A389C:p.Y130S;ENSG00000141425:ENST00000588737:exon5:c.A281C:p.Y94S;	0.00606922148422884	0.098
18	33610869	C	A	18	36030906	y	y	splicing	RPRD1A(NM_018170:exon5:c.389-1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.389-1G>T;ENST00000590898:exon6:c.281-1G>T;ENST00000337059:exon5:c.281-1G>T;ENST00000357384:exon5:c.389-1G>T;ENST00000588737:exon6:c.281-1G>T;ENST00000319040:exon5:c.389-1G>T;ENST00000589050:exon5:c.389-1G>T)	.	.	0.999981760802075	0.936
18	33610869	C	G	18	36030906	y	y	splicing	RPRD1A(NM_018170:exon5:c.389-1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.389-1G>C;ENST00000590898:exon6:c.281-1G>C;ENST00000337059:exon5:c.281-1G>C;ENST00000357384:exon5:c.389-1G>C;ENST00000588737:exon6:c.281-1G>C;ENST00000319040:exon5:c.389-1G>C;ENST00000589050:exon5:c.389-1G>C)	.	.	0.999981760802075	0.936
18	33610869	C	T	18	36030906	y	y	splicing	RPRD1A(NM_018170:exon5:c.389-1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.389-1G>A;ENST00000590898:exon6:c.281-1G>A;ENST00000337059:exon5:c.281-1G>A;ENST00000357384:exon5:c.389-1G>A;ENST00000588737:exon6:c.281-1G>A;ENST00000319040:exon5:c.389-1G>A;ENST00000589050:exon5:c.389-1G>A)	.	.	0.999981760802075	0.936
18	33610870	T	A	18	36030907	y	y	splicing	RPRD1A(NM_018170:exon5:c.389-2A>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.389-2A>T;ENST00000590898:exon6:c.281-2A>T;ENST00000337059:exon5:c.281-2A>T;ENST00000357384:exon5:c.389-2A>T;ENST00000588737:exon6:c.281-2A>T;ENST00000319040:exon5:c.389-2A>T;ENST00000589050:exon5:c.389-2A>T)	.	.	0.999988247793601	0.928
18	33610870	T	C	18	36030907	y	y	splicing	RPRD1A(NM_018170:exon5:c.389-2A>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.389-2A>G;ENST00000590898:exon6:c.281-2A>G;ENST00000337059:exon5:c.281-2A>G;ENST00000357384:exon5:c.389-2A>G;ENST00000588737:exon6:c.281-2A>G;ENST00000319040:exon5:c.389-2A>G;ENST00000589050:exon5:c.389-2A>G)	.	.	0.999988247793601	0.928
18	33610870	T	G	18	36030907	y	y	splicing	RPRD1A(NM_018170:exon5:c.389-2A>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon5:c.389-2A>C;ENST00000590898:exon6:c.281-2A>C;ENST00000337059:exon5:c.281-2A>C;ENST00000357384:exon5:c.389-2A>C;ENST00000588737:exon6:c.281-2A>C;ENST00000319040:exon5:c.389-2A>C;ENST00000589050:exon5:c.389-2A>C)	.	.	0.999988247793601	0.928
18	33610871	G	A	18	36030908	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.82058266997364E-4	0.076
18	33610871	G	C	18	36030908	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.984486529073419	0.87
18	33610871	G	T	18	36030908	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.536798417711014	0.45
18	33610872	A	C	18	36030909	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.91338685425772E-5	0.0
18	33610872	A	G	18	36030909	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.05577768977931E-5	0.0
18	33610872	A	T	18	36030909	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.57583001460679E-5	0.0
18	33610873	A	C	18	36030910	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00242814552317305	0.2
18	33610873	A	G	18	36030910	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.7643705211588E-4	0.074
18	33610873	A	T	18	36030910	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00196168520359407	0.228
18	33610874	A	C	18	36030911	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.927885128354463	0.552
18	33610874	A	G	18	36030911	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.27463912903608E-5	0.01
18	33610874	A	T	18	36030911	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.84838251829284E-4	0.076
18	33610875	T	A	18	36030912	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.29355189380826E-5	0.0
18	33610875	T	C	18	36030912	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.9129047323238E-5	0.01
18	33610875	T	G	18	36030912	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.96199293002215E-5	0.02
18	33610876	G	A	18	36030913	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.20992524700175E-5	0.012
18	33610876	G	C	18	36030913	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.65793697648592E-4	0.082
18	33610876	G	T	18	36030913	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.04938154397217E-5	0.028
18	33610877	A	C	18	36030914	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00516523734567337	0.156
18	33610877	A	G	18	36030914	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.4033395467658E-4	0.012
18	33610877	A	T	18	36030914	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00356181544199891	0.13
18	33610878	A	C	18	36030915	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0430809193187537	0.208
18	33610878	A	G	18	36030915	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00161304587660966	0.03
18	33610878	A	T	18	36030915	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0417997754719896	0.176
18	33610879	A	C	18	36030916	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00655299438522673	0.182
18	33610879	A	G	18	36030916	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.52190762487663E-4	0.068
18	33610879	A	T	18	36030916	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00663138630650424	0.18
18	33610880	G	A	18	36030917	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.76159386221088E-5	0.01
18	33610880	G	C	18	36030917	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.08414892884796E-4	0.032
18	33610880	G	T	18	36030917	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00163806460793715	0.1
18	33610946	A	C	18	36030983	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.13553750130627E-5	0.0
18	33610946	A	G	18	36030983	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.42459067572575E-5	0.002
18	33610946	A	T	18	36030983	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.77363113901219E-5	0.0
18	33610947	C	A	18	36030984	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.34593929488511E-5	0.004
18	33610947	C	G	18	36030984	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.82524559021363E-5	0.002
18	33610947	C	T	18	36030984	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.82524559021363E-5	0.002
18	33610948	A	C	18	36030985	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.997115449023017	0.914
18	33610948	A	G	18	36030985	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.997889763115851	0.98
18	33610948	A	T	18	36030985	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.99402017247122	0.832
18	33610949	C	A	18	36030986	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999940533966178	0.964
18	33610949	C	G	18	36030986	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999957338180753	0.986
18	33610949	C	T	18	36030986	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999941532924313	0.996
18	33610950	T	A	18	36030987	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.998000732557098	0.934
18	33610950	T	C	18	36030987	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999620040175442	0.956
18	33610950	T	G	18	36030987	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.997593292188142	0.928
18	33610951	T	A	18	36030988	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.99983409018718	0.884
18	33610951	T	C	18	36030988	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0299670007923375	0.362
18	33610951	T	G	18	36030988	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999680336542516	0.906
18	33610952	A	C	18	36030989	y	y	splicing	RPRD1A(NM_018170:exon4:c.388+2T>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.388+2T>G;ENST00000590898:exon5:c.280+2T>G;ENST00000337059:exon4:c.280+2T>G;ENST00000357384:exon4:c.388+2T>G;ENST00000588737:exon5:c.280+2T>G;ENST00000319040:exon4:c.388+2T>G;ENST00000589050:exon4:c.388+2T>G)	.	.	0.999988247793601	0.928
18	33610952	A	G	18	36030989	y	y	splicing	RPRD1A(NM_018170:exon4:c.388+2T>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.388+2T>C;ENST00000590898:exon5:c.280+2T>C;ENST00000337059:exon4:c.280+2T>C;ENST00000357384:exon4:c.388+2T>C;ENST00000588737:exon5:c.280+2T>C;ENST00000319040:exon4:c.388+2T>C;ENST00000589050:exon4:c.388+2T>C)	.	.	0.997244204344036	0.72
18	33610952	A	T	18	36030989	y	y	splicing	RPRD1A(NM_018170:exon4:c.388+2T>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.388+2T>A;ENST00000590898:exon5:c.280+2T>A;ENST00000337059:exon4:c.280+2T>A;ENST00000357384:exon4:c.388+2T>A;ENST00000588737:exon5:c.280+2T>A;ENST00000319040:exon4:c.388+2T>A;ENST00000589050:exon4:c.388+2T>A)	.	.	0.999988247793601	0.928
18	33610953	C	A	18	36030990	y	y	splicing	RPRD1A(NM_018170:exon4:c.388+1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.388+1G>T;ENST00000590898:exon5:c.280+1G>T;ENST00000337059:exon4:c.280+1G>T;ENST00000357384:exon4:c.388+1G>T;ENST00000588737:exon5:c.280+1G>T;ENST00000319040:exon4:c.388+1G>T;ENST00000589050:exon4:c.388+1G>T)	.	.	0.999981760802075	0.938
18	33610953	C	G	18	36030990	y	y	splicing	RPRD1A(NM_018170:exon4:c.388+1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.388+1G>C;ENST00000590898:exon5:c.280+1G>C;ENST00000337059:exon4:c.280+1G>C;ENST00000357384:exon4:c.388+1G>C;ENST00000588737:exon5:c.280+1G>C;ENST00000319040:exon4:c.388+1G>C;ENST00000589050:exon4:c.388+1G>C)	.	.	0.999981760802075	0.938
18	33610953	C	T	18	36030990	y	y	splicing	RPRD1A(NM_018170:exon4:c.388+1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.388+1G>A;ENST00000590898:exon5:c.280+1G>A;ENST00000337059:exon4:c.280+1G>A;ENST00000357384:exon4:c.388+1G>A;ENST00000588737:exon5:c.280+1G>A;ENST00000319040:exon4:c.388+1G>A;ENST00000589050:exon4:c.388+1G>A)	.	.	0.999981760802075	0.938
18	33610954	A	C	18	36030991	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.T388G:p.Y130D;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T280G:p.Y94D;ENSG00000141425:ENST00000590898:exon4:c.T280G:p.Y94D;ENSG00000141425:ENST00000319040:exon3:c.T388G:p.Y130D;ENSG00000141425:ENST00000589050:exon3:c.T388G:p.Y130D;ENSG00000141425:ENST00000399022:exon3:c.T388G:p.Y130D;ENSG00000141425:ENST00000357384:exon3:c.T388G:p.Y130D;ENSG00000141425:ENST00000588737:exon4:c.T280G:p.Y94D;	6.23783886988461E-4	0.066
18	33610954	A	G	18	36030991	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.T388C:p.Y130H;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T280C:p.Y94H;ENSG00000141425:ENST00000590898:exon4:c.T280C:p.Y94H;ENSG00000141425:ENST00000319040:exon3:c.T388C:p.Y130H;ENSG00000141425:ENST00000589050:exon3:c.T388C:p.Y130H;ENSG00000141425:ENST00000399022:exon3:c.T388C:p.Y130H;ENSG00000141425:ENST00000357384:exon3:c.T388C:p.Y130H;ENSG00000141425:ENST00000588737:exon4:c.T280C:p.Y94H;	0.0104124350732011	0.264
18	33610954	A	T	18	36030991	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.T388A:p.Y130N;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T280A:p.Y94N;ENSG00000141425:ENST00000590898:exon4:c.T280A:p.Y94N;ENSG00000141425:ENST00000319040:exon3:c.T388A:p.Y130N;ENSG00000141425:ENST00000589050:exon3:c.T388A:p.Y130N;ENSG00000141425:ENST00000399022:exon3:c.T388A:p.Y130N;ENSG00000141425:ENST00000357384:exon3:c.T388A:p.Y130N;ENSG00000141425:ENST00000588737:exon4:c.T280A:p.Y94N;	0.00300244643456707	0.024
18	33610955	C	A	18	36030992	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon3:c.G387T:p.L129L;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.G279T:p.L93L;ENSG00000141425:ENST00000590898:exon4:c.G279T:p.L93L;ENSG00000141425:ENST00000319040:exon3:c.G387T:p.L129L;ENSG00000141425:ENST00000589050:exon3:c.G387T:p.L129L;ENSG00000141425:ENST00000399022:exon3:c.G387T:p.L129L;ENSG00000141425:ENST00000357384:exon3:c.G387T:p.L129L;ENSG00000141425:ENST00000588737:exon4:c.G279T:p.L93L;	1.01119714517813E-4	0.01
18	33610955	C	G	18	36030992	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon3:c.G387C:p.L129L;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.G279C:p.L93L;ENSG00000141425:ENST00000590898:exon4:c.G279C:p.L93L;ENSG00000141425:ENST00000319040:exon3:c.G387C:p.L129L;ENSG00000141425:ENST00000589050:exon3:c.G387C:p.L129L;ENSG00000141425:ENST00000399022:exon3:c.G387C:p.L129L;ENSG00000141425:ENST00000357384:exon3:c.G387C:p.L129L;ENSG00000141425:ENST00000588737:exon4:c.G279C:p.L93L;	7.71264281634427E-5	0.0
18	33610955	C	T	18	36030992	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon3:c.G387A:p.L129L;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.G279A:p.L93L;ENSG00000141425:ENST00000590898:exon4:c.G279A:p.L93L;ENSG00000141425:ENST00000319040:exon3:c.G387A:p.L129L;ENSG00000141425:ENST00000589050:exon3:c.G387A:p.L129L;ENSG00000141425:ENST00000399022:exon3:c.G387A:p.L129L;ENSG00000141425:ENST00000357384:exon3:c.G387A:p.L129L;ENSG00000141425:ENST00000588737:exon4:c.G279A:p.L93L;	3.10606251092171E-4	0.08
18	33610956	A	C	18	36030993	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.T386G:p.L129R;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T278G:p.L93R;ENSG00000141425:ENST00000590898:exon4:c.T278G:p.L93R;ENSG00000141425:ENST00000319040:exon3:c.T386G:p.L129R;ENSG00000141425:ENST00000589050:exon3:c.T386G:p.L129R;ENSG00000141425:ENST00000399022:exon3:c.T386G:p.L129R;ENSG00000141425:ENST00000357384:exon3:c.T386G:p.L129R;ENSG00000141425:ENST00000588737:exon4:c.T278G:p.L93R;	0.635643581551355	0.622
18	33610956	A	G	18	36030993	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.T386C:p.L129P;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T278C:p.L93P;ENSG00000141425:ENST00000590898:exon4:c.T278C:p.L93P;ENSG00000141425:ENST00000319040:exon3:c.T386C:p.L129P;ENSG00000141425:ENST00000589050:exon3:c.T386C:p.L129P;ENSG00000141425:ENST00000399022:exon3:c.T386C:p.L129P;ENSG00000141425:ENST00000357384:exon3:c.T386C:p.L129P;ENSG00000141425:ENST00000588737:exon4:c.T278C:p.L93P;	0.653737431286866	0.638
18	33610956	A	T	18	36030993	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.T386A:p.L129Q;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T278A:p.L93Q;ENSG00000141425:ENST00000590898:exon4:c.T278A:p.L93Q;ENSG00000141425:ENST00000319040:exon3:c.T386A:p.L129Q;ENSG00000141425:ENST00000589050:exon3:c.T386A:p.L129Q;ENSG00000141425:ENST00000399022:exon3:c.T386A:p.L129Q;ENSG00000141425:ENST00000357384:exon3:c.T386A:p.L129Q;ENSG00000141425:ENST00000588737:exon4:c.T278A:p.L93Q;	0.650052318433104	0.702
18	33611059	C	A	18	36031096	y	y	exonic	RPRD1A	stopgain SNV	RPRD1A:NM_018170:exon3:c.G283T:p.E95X;	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000337059:exon3:c.G175T:p.E59X;ENSG00000141425:ENST00000590898:exon4:c.G175T:p.E59X;ENSG00000141425:ENST00000319040:exon3:c.G283T:p.E95X;ENSG00000141425:ENST00000589050:exon3:c.G283T:p.E95X;ENSG00000141425:ENST00000399022:exon3:c.G283T:p.E95X;ENSG00000141425:ENST00000357384:exon3:c.G283T:p.E95X;ENSG00000141425:ENST00000588737:exon4:c.G175T:p.E59X;	0.557779717654208	0.636
18	33611059	C	G	18	36031096	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.G283C:p.E95Q;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.G175C:p.E59Q;ENSG00000141425:ENST00000590898:exon4:c.G175C:p.E59Q;ENSG00000141425:ENST00000319040:exon3:c.G283C:p.E95Q;ENSG00000141425:ENST00000589050:exon3:c.G283C:p.E95Q;ENSG00000141425:ENST00000399022:exon3:c.G283C:p.E95Q;ENSG00000141425:ENST00000357384:exon3:c.G283C:p.E95Q;ENSG00000141425:ENST00000588737:exon4:c.G175C:p.E59Q;	0.384803424345582	0.572
18	33611059	C	T	18	36031096	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.G283A:p.E95K;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.G175A:p.E59K;ENSG00000141425:ENST00000590898:exon4:c.G175A:p.E59K;ENSG00000141425:ENST00000319040:exon3:c.G283A:p.E95K;ENSG00000141425:ENST00000589050:exon3:c.G283A:p.E95K;ENSG00000141425:ENST00000399022:exon3:c.G283A:p.E95K;ENSG00000141425:ENST00000357384:exon3:c.G283A:p.E95K;ENSG00000141425:ENST00000588737:exon4:c.G175A:p.E59K;	0.144791345776755	0.35
18	33611060	A	C	18	36031097	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.T282G:p.S94R;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T174G:p.S58R;ENSG00000141425:ENST00000590898:exon4:c.T174G:p.S58R;ENSG00000141425:ENST00000319040:exon3:c.T282G:p.S94R;ENSG00000141425:ENST00000589050:exon3:c.T282G:p.S94R;ENSG00000141425:ENST00000399022:exon3:c.T282G:p.S94R;ENSG00000141425:ENST00000357384:exon3:c.T282G:p.S94R;ENSG00000141425:ENST00000588737:exon4:c.T174G:p.S58R;	4.27181274127835E-4	0.072
18	33611060	A	G	18	36031097	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon3:c.T282C:p.S94S;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T174C:p.S58S;ENSG00000141425:ENST00000590898:exon4:c.T174C:p.S58S;ENSG00000141425:ENST00000319040:exon3:c.T282C:p.S94S;ENSG00000141425:ENST00000589050:exon3:c.T282C:p.S94S;ENSG00000141425:ENST00000399022:exon3:c.T282C:p.S94S;ENSG00000141425:ENST00000357384:exon3:c.T282C:p.S94S;ENSG00000141425:ENST00000588737:exon4:c.T174C:p.S58S;	0.0160583143238044	0.036
18	33611060	A	T	18	36031097	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon3:c.T282A:p.S94R;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon3:c.T174A:p.S58R;ENSG00000141425:ENST00000590898:exon4:c.T174A:p.S58R;ENSG00000141425:ENST00000319040:exon3:c.T282A:p.S94R;ENSG00000141425:ENST00000589050:exon3:c.T282A:p.S94R;ENSG00000141425:ENST00000399022:exon3:c.T282A:p.S94R;ENSG00000141425:ENST00000357384:exon3:c.T282A:p.S94R;ENSG00000141425:ENST00000588737:exon4:c.T174A:p.S58R;	3.54712208707475E-4	0.012
18	33611061	C	A	18	36031098	y	y	splicing	RPRD1A(NM_018170:exon4:c.282-1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.282-1G>T;ENST00000590898:exon5:c.174-1G>T;ENST00000337059:exon4:c.174-1G>T;ENST00000357384:exon4:c.282-1G>T;ENST00000588737:exon5:c.174-1G>T;ENST00000319040:exon4:c.282-1G>T;ENST00000589050:exon4:c.282-1G>T)	.	.	0.999985532734767	0.938
18	33611061	C	G	18	36031098	y	y	splicing	RPRD1A(NM_018170:exon4:c.282-1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.282-1G>C;ENST00000590898:exon5:c.174-1G>C;ENST00000337059:exon4:c.174-1G>C;ENST00000357384:exon4:c.282-1G>C;ENST00000588737:exon5:c.174-1G>C;ENST00000319040:exon4:c.282-1G>C;ENST00000589050:exon4:c.282-1G>C)	.	.	0.999985532734767	0.938
18	33611061	C	T	18	36031098	y	y	splicing	RPRD1A(NM_018170:exon4:c.282-1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.282-1G>A;ENST00000590898:exon5:c.174-1G>A;ENST00000337059:exon4:c.174-1G>A;ENST00000357384:exon4:c.282-1G>A;ENST00000588737:exon5:c.174-1G>A;ENST00000319040:exon4:c.282-1G>A;ENST00000589050:exon4:c.282-1G>A)	.	.	0.999985532734767	0.938
18	33611062	T	A	18	36031099	y	y	splicing	RPRD1A(NM_018170:exon4:c.282-2A>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.282-2A>T;ENST00000590898:exon5:c.174-2A>T;ENST00000337059:exon4:c.174-2A>T;ENST00000357384:exon4:c.282-2A>T;ENST00000588737:exon5:c.174-2A>T;ENST00000319040:exon4:c.282-2A>T;ENST00000589050:exon4:c.282-2A>T)	.	.	0.999988247793601	0.926
18	33611062	T	C	18	36031099	y	y	splicing	RPRD1A(NM_018170:exon4:c.282-2A>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.282-2A>G;ENST00000590898:exon5:c.174-2A>G;ENST00000337059:exon4:c.174-2A>G;ENST00000357384:exon4:c.282-2A>G;ENST00000588737:exon5:c.174-2A>G;ENST00000319040:exon4:c.282-2A>G;ENST00000589050:exon4:c.282-2A>G)	.	.	0.999988247793601	0.926
18	33611062	T	G	18	36031099	y	y	splicing	RPRD1A(NM_018170:exon4:c.282-2A>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon4:c.282-2A>C;ENST00000590898:exon5:c.174-2A>C;ENST00000337059:exon4:c.174-2A>C;ENST00000357384:exon4:c.282-2A>C;ENST00000588737:exon5:c.174-2A>C;ENST00000319040:exon4:c.282-2A>C;ENST00000589050:exon4:c.282-2A>C)	.	.	0.999988247793601	0.926
18	33611063	A	C	18	36031100	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.997827189575725	0.632
18	33611063	A	G	18	36031100	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.0513747104139E-4	0.0
18	33611063	A	T	18	36031100	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00483503998345204	0.142
18	33611064	A	C	18	36031101	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.27939443136393E-4	0.012
18	33611064	A	G	18	36031101	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.7970444447714E-5	0.0
18	33611064	A	T	18	36031101	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.09522053931821E-4	0.018
18	33611065	A	C	18	36031102	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00446189171100244	0.228
18	33611065	A	G	18	36031102	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.84438139093101E-4	0.01
18	33611065	A	T	18	36031102	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00239533432282219	0.158
18	33611066	A	C	18	36031103	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00232291413769743	0.132
18	33611066	A	G	18	36031103	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.34164238405733E-5	0.004
18	33611066	A	T	18	36031103	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00288917513026967	0.166
18	33611067	A	C	18	36031104	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.18492653933345E-4	0.03
18	33611067	A	G	18	36031104	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.50432106430944E-5	0.0
18	33611067	A	T	18	36031104	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.94492940279352E-4	0.014
18	33611068	A	C	18	36031105	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.10814544443333E-5	0.058
18	33611068	A	G	18	36031105	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.55223477687718E-5	0.0
18	33611068	A	T	18	36031105	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.31328931577816E-4	0.074
18	33611069	A	C	18	36031106	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.85033552736962E-4	0.212
18	33611069	A	G	18	36031106	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.45063708535795E-4	0.008
18	33611069	A	T	18	36031106	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.8887395084824E-4	0.19
18	33611070	A	C	18	36031107	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.42750856401973E-4	0.212
18	33611070	A	G	18	36031107	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.65961720811247E-4	0.004
18	33611070	A	T	18	36031107	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.12162923918842E-4	0.158
18	33611071	A	C	18	36031108	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.61755685774975E-5	0.066
18	33611071	A	G	18	36031108	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.14715528276767E-5	0.002
18	33611071	A	T	18	36031108	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.41369040349159E-5	0.036
18	33611072	A	C	18	36031109	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.70887303514876E-5	0.062
18	33611072	A	G	18	36031109	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.98543238960782E-5	0.002
18	33611072	A	T	18	36031109	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.13018028838895E-4	0.044
18	33613663	G	A	18	36033700	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.95145951409719E-5	0.0
18	33613663	G	C	18	36033700	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.95145951409719E-5	0.0
18	33613663	G	T	18	36033700	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.95145951409719E-5	0.0
18	33613664	A	C	18	36033701	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00483651128075953	0.002
18	33613664	A	G	18	36033701	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00483651128075953	0.0
18	33613664	A	T	18	36033701	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00500708513296116	0.0
18	33613665	T	A	18	36033702	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.97994374756174E-5	0.014
18	33613665	T	C	18	36033702	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.00256879587806E-4	0.0
18	33613665	T	G	18	36033702	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.96199988943832E-4	0.07
18	33613666	C	A	18	36033703	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.882036096076651	0.71
18	33613666	C	G	18	36033703	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.916676893105559	0.592
18	33613666	C	T	18	36033703	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.382742729014355	0.622
18	33613667	A	C	18	36033704	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.75366865164071E-5	0.07
18	33613667	A	G	18	36033704	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.22862472190899E-5	0.102
18	33613667	A	T	18	36033704	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.64619894237426E-5	0.054
18	33613668	T	A	18	36033705	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999267077249883	0.93
18	33613668	T	C	18	36033705	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.984498463592427	0.808
18	33613668	T	G	18	36033705	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.995706610904911	0.948
18	33613669	A	C	18	36033706	y	y	splicing	RPRD1A(NM_018170:exon3:c.281+2T>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.281+2T>G;ENST00000590898:exon4:c.173+2T>G;ENST00000337059:exon3:c.173+2T>G;ENST00000357384:exon3:c.281+2T>G;ENST00000588737:exon4:c.173+2T>G;ENST00000319040:exon3:c.281+2T>G;ENST00000589050:exon3:c.281+2T>G)	.	.	0.999989917668626	0.926
18	33613669	A	G	18	36033706	y	y	splicing	RPRD1A(NM_018170:exon3:c.281+2T>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.281+2T>C;ENST00000590898:exon4:c.173+2T>C;ENST00000337059:exon3:c.173+2T>C;ENST00000357384:exon3:c.281+2T>C;ENST00000588737:exon4:c.173+2T>C;ENST00000319040:exon3:c.281+2T>C;ENST00000589050:exon3:c.281+2T>C)	.	.	0.990945634311904	0.606
18	33613669	A	T	18	36033706	y	y	splicing	RPRD1A(NM_018170:exon3:c.281+2T>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.281+2T>A;ENST00000590898:exon4:c.173+2T>A;ENST00000337059:exon3:c.173+2T>A;ENST00000357384:exon3:c.281+2T>A;ENST00000588737:exon4:c.173+2T>A;ENST00000319040:exon3:c.281+2T>A;ENST00000589050:exon3:c.281+2T>A)	.	.	0.999989917668626	0.926
18	33613670	C	A	18	36033707	y	y	splicing	RPRD1A(NM_018170:exon3:c.281+1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.281+1G>T;ENST00000590898:exon4:c.173+1G>T;ENST00000337059:exon3:c.173+1G>T;ENST00000357384:exon3:c.281+1G>T;ENST00000588737:exon4:c.173+1G>T;ENST00000319040:exon3:c.281+1G>T;ENST00000589050:exon3:c.281+1G>T)	.	.	0.999986675681007	0.934
18	33613670	C	G	18	36033707	y	y	splicing	RPRD1A(NM_018170:exon3:c.281+1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.281+1G>C;ENST00000590898:exon4:c.173+1G>C;ENST00000337059:exon3:c.173+1G>C;ENST00000357384:exon3:c.281+1G>C;ENST00000588737:exon4:c.173+1G>C;ENST00000319040:exon3:c.281+1G>C;ENST00000589050:exon3:c.281+1G>C)	.	.	0.999986675681007	0.934
18	33613670	C	T	18	36033707	y	y	splicing	RPRD1A(NM_018170:exon3:c.281+1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.281+1G>A;ENST00000590898:exon4:c.173+1G>A;ENST00000337059:exon3:c.173+1G>A;ENST00000357384:exon3:c.281+1G>A;ENST00000588737:exon4:c.173+1G>A;ENST00000319040:exon3:c.281+1G>A;ENST00000589050:exon3:c.281+1G>A)	.	.	0.999986675681007	0.934
18	33613671	C	A	18	36033708	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.G281T:p.S94I;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.G173T:p.S58I;ENSG00000141425:ENST00000590898:exon3:c.G173T:p.S58I;ENSG00000141425:ENST00000319040:exon2:c.G281T:p.S94I;ENSG00000141425:ENST00000589050:exon2:c.G281T:p.S94I;ENSG00000141425:ENST00000399022:exon2:c.G281T:p.S94I;ENSG00000141425:ENST00000357384:exon2:c.G281T:p.S94I;ENSG00000141425:ENST00000588737:exon3:c.G173T:p.S58I;	0.999979320226127	0.992
18	33613671	C	G	18	36033708	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.G281C:p.S94T;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.G173C:p.S58T;ENSG00000141425:ENST00000590898:exon3:c.G173C:p.S58T;ENSG00000141425:ENST00000319040:exon2:c.G281C:p.S94T;ENSG00000141425:ENST00000589050:exon2:c.G281C:p.S94T;ENSG00000141425:ENST00000399022:exon2:c.G281C:p.S94T;ENSG00000141425:ENST00000357384:exon2:c.G281C:p.S94T;ENSG00000141425:ENST00000588737:exon3:c.G173C:p.S58T;	0.999937321980015	0.994
18	33613671	C	T	18	36033708	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.G281A:p.S94N;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.G173A:p.S58N;ENSG00000141425:ENST00000590898:exon3:c.G173A:p.S58N;ENSG00000141425:ENST00000319040:exon2:c.G281A:p.S94N;ENSG00000141425:ENST00000589050:exon2:c.G281A:p.S94N;ENSG00000141425:ENST00000399022:exon2:c.G281A:p.S94N;ENSG00000141425:ENST00000357384:exon2:c.G281A:p.S94N;ENSG00000141425:ENST00000588737:exon3:c.G173A:p.S58N;	0.999929592971583	0.998
18	33613672	T	A	18	36033709	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.A280T:p.S94C;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.A172T:p.S58C;ENSG00000141425:ENST00000590898:exon3:c.A172T:p.S58C;ENSG00000141425:ENST00000319040:exon2:c.A280T:p.S94C;ENSG00000141425:ENST00000589050:exon2:c.A280T:p.S94C;ENSG00000141425:ENST00000399022:exon2:c.A280T:p.S94C;ENSG00000141425:ENST00000357384:exon2:c.A280T:p.S94C;ENSG00000141425:ENST00000588737:exon3:c.A172T:p.S58C;	0.999574914712339	0.982
18	33613672	T	C	18	36033709	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.A280G:p.S94G;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.A172G:p.S58G;ENSG00000141425:ENST00000590898:exon3:c.A172G:p.S58G;ENSG00000141425:ENST00000319040:exon2:c.A280G:p.S94G;ENSG00000141425:ENST00000589050:exon2:c.A280G:p.S94G;ENSG00000141425:ENST00000399022:exon2:c.A280G:p.S94G;ENSG00000141425:ENST00000357384:exon2:c.A280G:p.S94G;ENSG00000141425:ENST00000588737:exon3:c.A172G:p.S58G;	0.977502999914901	0.774
18	33613672	T	G	18	36033709	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.A280C:p.S94R;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.A172C:p.S58R;ENSG00000141425:ENST00000590898:exon3:c.A172C:p.S58R;ENSG00000141425:ENST00000319040:exon2:c.A280C:p.S94R;ENSG00000141425:ENST00000589050:exon2:c.A280C:p.S94R;ENSG00000141425:ENST00000399022:exon2:c.A280C:p.S94R;ENSG00000141425:ENST00000357384:exon2:c.A280C:p.S94R;ENSG00000141425:ENST00000588737:exon3:c.A172C:p.S58R;	0.605586723567702	0.458
18	33613673	T	A	18	36033710	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon2:c.A279T:p.S93S;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.A171T:p.S57S;ENSG00000141425:ENST00000590898:exon3:c.A171T:p.S57S;ENSG00000141425:ENST00000319040:exon2:c.A279T:p.S93S;ENSG00000141425:ENST00000589050:exon2:c.A279T:p.S93S;ENSG00000141425:ENST00000399022:exon2:c.A279T:p.S93S;ENSG00000141425:ENST00000357384:exon2:c.A279T:p.S93S;ENSG00000141425:ENST00000588737:exon3:c.A171T:p.S57S;	0.16296118224566	0.496
18	33613673	T	C	18	36033710	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon2:c.A279G:p.S93S;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.A171G:p.S57S;ENSG00000141425:ENST00000590898:exon3:c.A171G:p.S57S;ENSG00000141425:ENST00000319040:exon2:c.A279G:p.S93S;ENSG00000141425:ENST00000589050:exon2:c.A279G:p.S93S;ENSG00000141425:ENST00000399022:exon2:c.A279G:p.S93S;ENSG00000141425:ENST00000357384:exon2:c.A279G:p.S93S;ENSG00000141425:ENST00000588737:exon3:c.A171G:p.S57S;	4.16563445000084E-4	0.01
18	33613673	T	G	18	36033710	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon2:c.A279C:p.S93S;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.A171C:p.S57S;ENSG00000141425:ENST00000590898:exon3:c.A171C:p.S57S;ENSG00000141425:ENST00000319040:exon2:c.A279C:p.S93S;ENSG00000141425:ENST00000589050:exon2:c.A279C:p.S93S;ENSG00000141425:ENST00000399022:exon2:c.A279C:p.S93S;ENSG00000141425:ENST00000357384:exon2:c.A279C:p.S93S;ENSG00000141425:ENST00000588737:exon3:c.A171C:p.S57S;	1.08806510571926E-4	0.002
18	33613799	G	A	18	36033836	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon2:c.C153T:p.A51A;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.C45T:p.S15S;ENSG00000141425:ENST00000590898:exon3:c.C45T:p.S15S;ENSG00000141425:ENST00000319040:exon2:c.C153T:p.A51A;ENSG00000141425:ENST00000589050:exon2:c.C153T:p.A51A;ENSG00000141425:ENST00000399022:exon2:c.C153T:p.A51A;ENSG00000141425:ENST00000357384:exon2:c.C153T:p.A51A;ENSG00000141425:ENST00000588737:exon3:c.C45T:p.S15S;	6.82707771613892E-5	0.0
18	33613799	G	C	18	36033836	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon2:c.C153G:p.A51A;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.C45G:p.S15S;ENSG00000141425:ENST00000590898:exon3:c.C45G:p.S15S;ENSG00000141425:ENST00000319040:exon2:c.C153G:p.A51A;ENSG00000141425:ENST00000589050:exon2:c.C153G:p.A51A;ENSG00000141425:ENST00000399022:exon2:c.C153G:p.A51A;ENSG00000141425:ENST00000357384:exon2:c.C153G:p.A51A;ENSG00000141425:ENST00000588737:exon3:c.C45G:p.S15S;	2.742431155072E-5	0.006
18	33613799	G	T	18	36033836	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon2:c.C153A:p.A51A;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.C45A:p.S15S;ENSG00000141425:ENST00000590898:exon3:c.C45A:p.S15S;ENSG00000141425:ENST00000319040:exon2:c.C153A:p.A51A;ENSG00000141425:ENST00000589050:exon2:c.C153A:p.A51A;ENSG00000141425:ENST00000399022:exon2:c.C153A:p.A51A;ENSG00000141425:ENST00000357384:exon2:c.C153A:p.A51A;ENSG00000141425:ENST00000588737:exon3:c.C45A:p.S15S;	1.857750975204E-5	0.002
18	33613800	G	A	18	36033837	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.C152T:p.A51V;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.C44T:p.S15F;ENSG00000141425:ENST00000590898:exon3:c.C44T:p.S15F;ENSG00000141425:ENST00000319040:exon2:c.C152T:p.A51V;ENSG00000141425:ENST00000589050:exon2:c.C152T:p.A51V;ENSG00000141425:ENST00000399022:exon2:c.C152T:p.A51V;ENSG00000141425:ENST00000357384:exon2:c.C152T:p.A51V;ENSG00000141425:ENST00000588737:exon3:c.C44T:p.S15F;	0.975608599233205	0.772
18	33613800	G	C	18	36033837	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.C152G:p.A51G;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.C44G:p.S15C;ENSG00000141425:ENST00000590898:exon3:c.C44G:p.S15C;ENSG00000141425:ENST00000319040:exon2:c.C152G:p.A51G;ENSG00000141425:ENST00000589050:exon2:c.C152G:p.A51G;ENSG00000141425:ENST00000399022:exon2:c.C152G:p.A51G;ENSG00000141425:ENST00000357384:exon2:c.C152G:p.A51G;ENSG00000141425:ENST00000588737:exon3:c.C44G:p.S15C;	0.946882646044982	0.628
18	33613800	G	T	18	36033837	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon2:c.C152A:p.A51D;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon2:c.C44A:p.S15Y;ENSG00000141425:ENST00000590898:exon3:c.C44A:p.S15Y;ENSG00000141425:ENST00000319040:exon2:c.C152A:p.A51D;ENSG00000141425:ENST00000589050:exon2:c.C152A:p.A51D;ENSG00000141425:ENST00000399022:exon2:c.C152A:p.A51D;ENSG00000141425:ENST00000357384:exon2:c.C152A:p.A51D;ENSG00000141425:ENST00000588737:exon3:c.C44A:p.S15Y;	0.947929752740774	0.812
18	33613801	C	A	18	36033838	y	y	splicing	RPRD1A(NM_018170:exon3:c.152-1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.152-1G>T;ENST00000590898:exon4:c.44-1G>T;ENST00000337059:exon3:c.44-1G>T;ENST00000357384:exon3:c.152-1G>T;ENST00000588737:exon4:c.44-1G>T;ENST00000319040:exon3:c.152-1G>T;ENST00000589050:exon3:c.152-1G>T;ENST00000592674:exon5:c.309-1G>T)	.	.	0.999986675681007	0.94
18	33613801	C	G	18	36033838	y	y	splicing	RPRD1A(NM_018170:exon3:c.152-1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.152-1G>C;ENST00000590898:exon4:c.44-1G>C;ENST00000337059:exon3:c.44-1G>C;ENST00000357384:exon3:c.152-1G>C;ENST00000588737:exon4:c.44-1G>C;ENST00000319040:exon3:c.152-1G>C;ENST00000589050:exon3:c.152-1G>C;ENST00000592674:exon5:c.309-1G>C)	.	.	0.999986675681007	0.94
18	33613801	C	T	18	36033838	y	y	splicing	RPRD1A(NM_018170:exon3:c.152-1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.152-1G>A;ENST00000590898:exon4:c.44-1G>A;ENST00000337059:exon3:c.44-1G>A;ENST00000357384:exon3:c.152-1G>A;ENST00000588737:exon4:c.44-1G>A;ENST00000319040:exon3:c.152-1G>A;ENST00000589050:exon3:c.152-1G>A;ENST00000592674:exon5:c.309-1G>A)	.	.	0.999986675681007	0.94
18	33613802	T	A	18	36033839	y	y	splicing	RPRD1A(NM_018170:exon3:c.152-2A>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.152-2A>T;ENST00000590898:exon4:c.44-2A>T;ENST00000337059:exon3:c.44-2A>T;ENST00000357384:exon3:c.152-2A>T;ENST00000588737:exon4:c.44-2A>T;ENST00000319040:exon3:c.152-2A>T;ENST00000589050:exon3:c.152-2A>T;ENST00000592674:exon5:c.309-2A>T)	.	.	0.999989917668626	0.928
18	33613802	T	C	18	36033839	y	y	splicing	RPRD1A(NM_018170:exon3:c.152-2A>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.152-2A>G;ENST00000590898:exon4:c.44-2A>G;ENST00000337059:exon3:c.44-2A>G;ENST00000357384:exon3:c.152-2A>G;ENST00000588737:exon4:c.44-2A>G;ENST00000319040:exon3:c.152-2A>G;ENST00000589050:exon3:c.152-2A>G;ENST00000592674:exon5:c.309-2A>G)	.	.	0.999989917668626	0.926
18	33613802	T	G	18	36033839	y	y	splicing	RPRD1A(NM_018170:exon3:c.152-2A>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon3:c.152-2A>C;ENST00000590898:exon4:c.44-2A>C;ENST00000337059:exon3:c.44-2A>C;ENST00000357384:exon3:c.152-2A>C;ENST00000588737:exon4:c.44-2A>C;ENST00000319040:exon3:c.152-2A>C;ENST00000589050:exon3:c.152-2A>C;ENST00000592674:exon5:c.309-2A>C)	.	.	0.999989917668626	0.926
18	33613803	G	A	18	36033840	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0447370560974837	0.118
18	33613803	G	C	18	36033840	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.99983353686564	0.97
18	33613803	G	T	18	36033840	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.488166334706219	0.674
18	33613804	A	C	18	36033841	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.47393916538942E-5	0.034
18	33613804	A	G	18	36033841	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	6.77411717238022E-5	0.054
18	33613804	A	T	18	36033841	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	6.28123704405012E-5	0.048
18	33613805	A	C	18	36033842	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.394800479600489	0.458
18	33613805	A	G	18	36033842	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0117167731155488	0.176
18	33613805	A	T	18	36033842	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.734814988101036	0.41
18	33613806	A	C	18	36033843	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.132584892920808	0.316
18	33613806	A	G	18	36033843	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00506288770817636	0.134
18	33613806	A	T	18	36033843	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.464359312213963	0.32
18	33613807	A	C	18	36033844	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.012067124199505	0.08
18	33613807	A	G	18	36033844	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.82307422768858E-4	0.03
18	33613807	A	T	18	36033844	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0252914328875225	0.128
18	33613808	A	C	18	36033845	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999773902185266	0.988
18	33613808	A	G	18	36033845	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.65897682407476E-5	0.01
18	33613808	A	T	18	36033845	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	6.97912412562209E-4	0.058
18	33613809	T	A	18	36033846	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.38324273652714E-5	0.002
18	33613809	T	C	18	36033846	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.8442597556991E-5	0.0
18	33613809	T	G	18	36033846	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.68513435237246E-5	0.004
18	33613810	A	C	18	36033847	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00170594143025489	0.15
18	33613810	A	G	18	36033847	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.52901166754565E-4	0.004
18	33613810	A	T	18	36033847	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00174596548797184	0.128
18	33613811	A	C	18	36033848	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0106460200345726	0.32
18	33613811	A	G	18	36033848	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0152298879884744	0.19
18	33613811	A	T	18	36033848	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0836111623314402	0.328
18	33613812	G	A	18	36033849	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.24181934846302E-5	0.0
18	33613812	G	C	18	36033849	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.86966777801393E-4	0.012
18	33613812	G	T	18	36033849	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.81764705303408E-4	0.036
18	33620762	T	A	18	36040799	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.81456590373184E-4	0.102
18	33620762	T	C	18	36040799	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.81456590373184E-4	0.054
18	33620762	T	G	18	36040799	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.81456590373184E-4	0.06
18	33620763	C	A	18	36040800	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.15849948155271E-5	0.0
18	33620763	C	G	18	36040800	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.15849948155271E-5	0.0
18	33620763	C	T	18	36040800	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.15849948155271E-5	0.0
18	33620764	A	C	18	36040801	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.84193600056129E-5	0.0
18	33620764	A	G	18	36040801	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.84193600056129E-5	0.0
18	33620764	A	T	18	36040801	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.06651109346937E-5	0.0
18	33620765	C	A	18	36040802	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.87710572064966E-5	0.0
18	33620765	C	G	18	36040802	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.87710572064966E-5	0.008
18	33620765	C	T	18	36040802	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.87710572064966E-5	0.0
18	33620766	T	A	18	36040803	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.92786444512075E-5	0.006
18	33620766	T	C	18	36040803	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.78667633506325E-5	0.006
18	33620766	T	G	18	36040803	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.78667633506325E-5	0.006
18	33620767	T	A	18	36040804	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.26718658278921E-5	0.006
18	33620767	T	C	18	36040804	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.26718658278921E-5	0.006
18	33620767	T	G	18	36040804	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.26718658278921E-5	0.006
18	33620768	A	C	18	36040805	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000590898:exon3:c.43+2T>G;ENST00000337059:exon2:c.43+2T>G;ENST00000588737:exon3:c.43+2T>G;ENST00000592674:exon4:c.308+2T>G)	.	.	4.22570046749174E-4	0.05
18	33620768	A	G	18	36040805	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000590898:exon3:c.43+2T>C;ENST00000337059:exon2:c.43+2T>C;ENST00000588737:exon3:c.43+2T>C;ENST00000592674:exon4:c.308+2T>C)	.	.	4.22570046749174E-4	0.05
18	33620768	A	T	18	36040805	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000590898:exon3:c.43+2T>A;ENST00000337059:exon2:c.43+2T>A;ENST00000588737:exon3:c.43+2T>A;ENST00000592674:exon4:c.308+2T>A)	.	.	4.81456590373184E-4	0.066
18	33620769	C	A	18	36040806	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000590898:exon3:c.43+1G>T;ENST00000337059:exon2:c.43+1G>T;ENST00000588737:exon3:c.43+1G>T;ENST00000592674:exon4:c.308+1G>T)	.	.	2.45277156108894E-5	0.0
18	33620769	C	G	18	36040806	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000590898:exon3:c.43+1G>C;ENST00000337059:exon2:c.43+1G>C;ENST00000588737:exon3:c.43+1G>C;ENST00000592674:exon4:c.308+1G>C)	.	.	2.45277156108894E-5	0.002
18	33620769	C	T	18	36040806	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000590898:exon3:c.43+1G>A;ENST00000337059:exon2:c.43+1G>A;ENST00000588737:exon3:c.43+1G>A;ENST00000592674:exon4:c.308+1G>A)	.	.	2.45277156108894E-5	0.0
18	33620770	A	C	18	36040807	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon1:c.T43G:p.S15A;ENSG00000141425:ENST00000590898:exon2:c.T43G:p.S15A;ENSG00000141425:ENST00000588737:exon2:c.T43G:p.S15A;	2.19548668036553E-5	0.006
18	33620770	A	G	18	36040807	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon1:c.T43C:p.S15P;ENSG00000141425:ENST00000590898:exon2:c.T43C:p.S15P;ENSG00000141425:ENST00000588737:exon2:c.T43C:p.S15P;	3.951189346585E-5	0.0
18	33620770	A	T	18	36040807	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon1:c.T43A:p.S15T;ENSG00000141425:ENST00000590898:exon2:c.T43A:p.S15T;ENSG00000141425:ENST00000588737:exon2:c.T43A:p.S15T;	3.951189346585E-5	0.0
18	33620771	G	A	18	36040808	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000337059:exon1:c.C42T:p.Y14Y;ENSG00000141425:ENST00000590898:exon2:c.C42T:p.Y14Y;ENSG00000141425:ENST00000588737:exon2:c.C42T:p.Y14Y;	7.4720228130805E-5	0.04
18	33620771	G	C	18	36040808	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000337059:exon1:c.C42G:p.Y14X;ENSG00000141425:ENST00000590898:exon2:c.C42G:p.Y14X;ENSG00000141425:ENST00000588737:exon2:c.C42G:p.Y14X;	0.00135470015719765	0.004
18	33620771	G	T	18	36040808	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000337059:exon1:c.C42A:p.Y14X;ENSG00000141425:ENST00000590898:exon2:c.C42A:p.Y14X;ENSG00000141425:ENST00000588737:exon2:c.C42A:p.Y14X;	0.00122913998718321	0.0
18	33620772	T	A	18	36040809	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon1:c.A41T:p.Y14F;ENSG00000141425:ENST00000590898:exon2:c.A41T:p.Y14F;ENSG00000141425:ENST00000588737:exon2:c.A41T:p.Y14F;	4.78674951653264E-5	0.004
18	33620772	T	C	18	36040809	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon1:c.A41G:p.Y14C;ENSG00000141425:ENST00000590898:exon2:c.A41G:p.Y14C;ENSG00000141425:ENST00000588737:exon2:c.A41G:p.Y14C;	3.52173701430229E-5	0.01
18	33620772	T	G	18	36040809	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000337059:exon1:c.A41C:p.Y14S;ENSG00000141425:ENST00000590898:exon2:c.A41C:p.Y14S;ENSG00000141425:ENST00000588737:exon2:c.A41C:p.Y14S;	1.37501361942679E-5	0.006
18	33620827	C	A	18	36040864	n	y	intronic	RPRD1A	.	.	UTR5;UTR3	ENSG00000141425;ENSG00000141425	.	.	2.68219155180855E-5	0.002
18	33620827	C	G	18	36040864	n	y	intronic	RPRD1A	.	.	UTR5;UTR3	ENSG00000141425;ENSG00000141425	.	.	2.68219155180855E-5	0.002
18	33620827	C	T	18	36040864	n	y	intronic	RPRD1A	.	.	UTR5;UTR3	ENSG00000141425;ENSG00000141425	.	.	2.68219155180855E-5	0.002
18	33620828	T	A	18	36040865	n	y	intronic	RPRD1A	.	.	UTR5;UTR3	ENSG00000141425;ENSG00000141425	.	.	1.47800409892608E-4	0.04
18	33620828	T	C	18	36040865	n	y	intronic	RPRD1A	.	.	UTR5;UTR3	ENSG00000141425;ENSG00000141425	.	.	1.47800409892608E-4	0.04
18	33620828	T	G	18	36040865	n	y	intronic	RPRD1A	.	.	UTR5;UTR3	ENSG00000141425;ENSG00000141425	.	.	1.47800409892608E-4	0.04
18	33620829	C	A	18	36040866	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon4:c.250-1G>T)	.	.	1.99153316237132E-5	0.0
18	33620829	C	G	18	36040866	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon4:c.250-1G>C)	.	.	1.99153316237132E-5	0.0
18	33620829	C	T	18	36040866	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon4:c.250-1G>A)	.	.	1.99153316237132E-5	0.0
18	33620830	T	A	18	36040867	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon4:c.250-2A>T)	.	.	2.62327869165243E-4	0.03
18	33620830	T	C	18	36040867	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon4:c.250-2A>G)	.	.	3.50764387530968E-4	0.058
18	33620830	T	G	18	36040867	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon4:c.250-2A>C)	.	.	3.50764387530968E-4	0.058
18	33620831	A	C	18	36040868	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.50764387530968E-4	0.104
18	33620831	A	G	18	36040868	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.50764387530968E-4	0.084
18	33620831	A	T	18	36040868	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.62327869165243E-4	0.026
18	33620832	A	C	18	36040869	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.62327869165243E-4	0.03
18	33620832	A	G	18	36040869	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.62327869165243E-4	0.03
18	33620832	A	T	18	36040869	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.62327869165243E-4	0.026
18	33620833	A	C	18	36040870	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.78864525412067E-5	0.0
18	33620833	A	G	18	36040870	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.78864525412067E-5	0.0
18	33620833	A	T	18	36040870	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.08802802279601E-5	0.0
18	33620834	A	C	18	36040871	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.62327869165243E-4	0.03
18	33620834	A	G	18	36040871	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.62327869165243E-4	0.03
18	33620834	A	T	18	36040871	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.76705376348799E-4	0.024
18	33620835	G	A	18	36040872	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.74602498755167E-5	0.032
18	33620835	G	C	18	36040872	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.74602498755167E-5	0.062
18	33620835	G	T	18	36040872	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.74602498755167E-5	0.032
18	33620836	G	A	18	36040873	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.80274866394675E-5	0.0
18	33620836	G	C	18	36040873	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.41069364790736E-5	0.01
18	33620836	G	T	18	36040873	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.80274866394675E-5	0.0
18	33620837	A	C	18	36040874	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.76705376348799E-4	0.022
18	33620837	A	G	18	36040874	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.76705376348799E-4	0.022
18	33620837	A	T	18	36040874	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.95016413390146E-4	0.022
18	33620838	A	C	18	36040875	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.76705376348799E-4	0.022
18	33620838	A	G	18	36040875	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.76705376348799E-4	0.022
18	33620838	A	T	18	36040875	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.17366974959638E-4	0.022
18	33620839	G	A	18	36040876	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.13979659272119E-4	0.12
18	33620839	G	C	18	36040876	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.72768316056673E-4	0.124
18	33620839	G	T	18	36040876	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.72768316056673E-4	0.126
18	33620840	C	A	18	36040877	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.57076726553018E-5	0.0
18	33620840	C	G	18	36040877	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.57076726553018E-5	0.0
18	33620840	C	T	18	36040877	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.57076726553018E-5	0.0
18	33642933	T	A	18	36062970	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.32626888200385E-4	0.002
18	33642933	T	C	18	36062970	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.77346097862455E-4	0.104
18	33642933	T	G	18	36062970	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.77346097862455E-4	0.124
18	33642934	C	A	18	36062971	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.29172098833992E-5	0.034
18	33642934	C	G	18	36062971	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.29172098833992E-5	0.034
18	33642934	C	T	18	36062971	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.29172098833992E-5	0.034
18	33642935	A	C	18	36062972	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.64084767037613E-5	0.006
18	33642935	A	G	18	36062972	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.64084767037613E-5	0.006
18	33642935	A	T	18	36062972	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.64084767037613E-5	0.014
18	33642936	C	A	18	36062973	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.4631346304159E-5	0.034
18	33642936	C	G	18	36062973	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.4631346304159E-5	0.034
18	33642936	C	T	18	36062973	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.80465223468383E-5	0.038
18	33642937	T	A	18	36062974	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.39765988491657E-5	0.006
18	33642937	T	C	18	36062974	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.01559384236425E-5	0.004
18	33642937	T	G	18	36062974	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.01559384236425E-5	0.004
18	33642938	T	A	18	36062975	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.6128894829304E-5	0.004
18	33642938	T	C	18	36062975	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.49403053016175E-5	0.076
18	33642938	T	G	18	36062975	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.49403053016175E-5	0.092
18	33642939	A	C	18	36062976	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.249+2T>G)	.	.	3.67272766448078E-5	0.0
18	33642939	A	G	18	36062976	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.249+2T>C)	.	.	3.67272766448078E-5	0.0
18	33642939	A	T	18	36062976	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.249+2T>A)	.	.	6.67535614375061E-5	0.0
18	33642940	C	A	18	36062977	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.249+1G>T)	.	.	7.27456659313109E-5	0.0
18	33642940	C	G	18	36062977	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.249+1G>C)	.	.	7.27456659313109E-5	0.0
18	33642940	C	T	18	36062977	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.249+1G>A)	.	.	7.27456659313109E-5	0.0
18	33642941	A	C	18	36062978	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	6.91564032431422E-5	0.0
18	33642941	A	G	18	36062978	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	6.91564032431422E-5	0.0
18	33642941	A	T	18	36062978	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.15267776820636E-5	0.0
18	33642942	T	A	18	36062979	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	6.76859584735311E-4	0.0
18	33642942	T	C	18	36062979	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	5.28290728823224E-4	0.0
18	33642942	T	G	18	36062979	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	5.28290728823224E-4	0.0
18	33642943	T	A	18	36062980	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	9.40094287361931E-5	0.0
18	33642943	T	C	18	36062980	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.50312366030491E-5	0.0
18	33642943	T	G	18	36062980	n	y	intronic	RPRD1A	.	.	UTR3	ENSG00000141425	.	.	3.50312366030491E-5	0.0
18	33643037	T	A	18	36063074	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon2:c.A153T:p.E51D;	7.68433810549259E-5	0.0
18	33643037	T	C	18	36063074	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000592674:exon2:c.A153G:p.E51E;	7.68433810549259E-5	0.0
18	33643037	T	G	18	36063074	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon2:c.A153C:p.E51D;	7.68433810549259E-5	0.0
18	33643038	T	A	18	36063075	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon2:c.A152T:p.E51V;	2.46039206459424E-4	0.0
18	33643038	T	C	18	36063075	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon2:c.A152G:p.E51G;	2.46039206459424E-4	0.0
18	33643038	T	G	18	36063075	n	y	intronic	RPRD1A	.	.	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon2:c.A152C:p.E51A;	2.46039206459424E-4	0.0
18	33643039	C	A	18	36063076	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.152-1G>T)	.	.	4.59011002566824E-5	0.006
18	33643039	C	G	18	36063076	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.152-1G>C)	.	.	4.59011002566824E-5	0.01
18	33643039	C	T	18	36063076	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.152-1G>A)	.	.	4.59011002566824E-5	0.008
18	33643040	T	A	18	36063077	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.152-2A>T)	.	.	4.90028566392549E-5	0.002
18	33643040	T	C	18	36063077	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.152-2A>G)	.	.	4.90028566392549E-5	0.002
18	33643040	T	G	18	36063077	n	y	intronic	RPRD1A	.	.	splicing	ENSG00000141425(ENST00000592674:exon3:c.152-2A>C)	.	.	4.90028566392549E-5	0.002
18	33643041	T	A	18	36063078	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643041	T	C	18	36063078	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643041	T	G	18	36063078	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643042	T	A	18	36063079	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643042	T	C	18	36063079	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643042	T	G	18	36063079	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643043	A	C	18	36063080	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.68433810549259E-5	0.0
18	33643043	A	G	18	36063080	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	7.68433810549259E-5	0.0
18	33643043	A	T	18	36063080	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.50312366030491E-5	0.0
18	33643044	A	C	18	36063081	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643044	A	G	18	36063081	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643044	A	T	18	36063081	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643045	A	C	18	36063082	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.2886448328189E-5	0.004
18	33643045	A	G	18	36063082	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.2886448328189E-5	0.004
18	33643045	A	T	18	36063082	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.97728621093963E-5	0.004
18	33643046	G	A	18	36063083	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	6.89925739660516E-5	0.004
18	33643046	G	C	18	36063083	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.31929338280547E-5	0.004
18	33643046	G	T	18	36063083	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	6.89925739660516E-5	0.004
18	33643047	G	A	18	36063084	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.09892542286794E-4	0.066
18	33643047	G	C	18	36063084	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.09892542286794E-4	0.066
18	33643047	G	T	18	36063084	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.09892542286794E-4	0.066
18	33643048	A	C	18	36063085	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643048	A	G	18	36063085	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643048	A	T	18	36063085	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.46039206459424E-4	0.0
18	33643049	G	A	18	36063086	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.68952365742707E-5	0.002
18	33643049	G	C	18	36063086	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.68952365742707E-5	0.004
18	33643049	G	T	18	36063086	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	4.68952365742707E-5	0.006
18	33643050	A	C	18	36063087	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.2886448328189E-5	0.0
18	33643050	A	G	18	36063087	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	3.2886448328189E-5	0.0
18	33643050	A	T	18	36063087	n	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	5.97728621093963E-5	0.0
18	33647209	T	A	18	36067246	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.05242181345162E-4	0.128
18	33647209	T	C	18	36067246	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.23437364750753E-5	0.084
18	33647209	T	G	18	36067246	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.39299675260255E-5	0.1
18	33647210	G	A	18	36067247	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	1.04988694308302E-4	0.002
18	33647210	G	C	18	36067247	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	9.42231609740691E-5	0.002
18	33647210	G	T	18	36067247	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.22552038296253E-5	0.0
18	33647211	A	C	18	36067248	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	8.13295913725264E-4	0.08
18	33647211	A	G	18	36067248	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.00224762230250228	0.06
18	33647211	A	T	18	36067248	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.0088763953568393	0.088
18	33647212	C	A	18	36067249	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.996265164912482	0.834
18	33647212	C	G	18	36067249	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.991649114941175	0.802
18	33647212	C	T	18	36067249	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.997078877189149	0.876
18	33647213	T	A	18	36067250	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.997471615293227	0.828
18	33647213	T	C	18	36067250	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.999180866356111	0.882
18	33647213	T	G	18	36067250	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.993775036703292	0.834
18	33647214	C	A	18	36067251	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.27764547575579	0.438
18	33647214	C	G	18	36067251	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	0.28129291409665	0.508
18	33647214	C	T	18	36067251	y	y	intronic	RPRD1A	.	.	intronic	ENSG00000141425	.	.	2.36818182923291E-4	0.008
18	33647215	A	C	18	36067252	y	y	splicing	RPRD1A(NM_018170:exon2:c.151+2T>G)	.	.	splicing	ENSG00000141425(ENST00000399022:exon2:c.151+2T>G;ENST00000357384:exon2:c.151+2T>G;ENST00000319040:exon2:c.151+2T>G;ENST00000589050:exon2:c.151+2T>G;ENST00000592674:exon2:c.151+2T>G)	.	.	0.999981808176352	0.924
18	33647215	A	G	18	36067252	y	y	splicing	RPRD1A(NM_018170:exon2:c.151+2T>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon2:c.151+2T>C;ENST00000357384:exon2:c.151+2T>C;ENST00000319040:exon2:c.151+2T>C;ENST00000589050:exon2:c.151+2T>C;ENST00000592674:exon2:c.151+2T>C)	.	.	0.999949037476571	0.88
18	33647215	A	T	18	36067252	y	y	splicing	RPRD1A(NM_018170:exon2:c.151+2T>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon2:c.151+2T>A;ENST00000357384:exon2:c.151+2T>A;ENST00000319040:exon2:c.151+2T>A;ENST00000589050:exon2:c.151+2T>A;ENST00000592674:exon2:c.151+2T>A)	.	.	0.999981808176352	0.924
18	33647216	C	A	18	36067253	y	y	splicing	RPRD1A(NM_018170:exon2:c.151+1G>T)	.	.	splicing	ENSG00000141425(ENST00000399022:exon2:c.151+1G>T;ENST00000357384:exon2:c.151+1G>T;ENST00000319040:exon2:c.151+1G>T;ENST00000589050:exon2:c.151+1G>T;ENST00000592674:exon2:c.151+1G>T)	.	.	0.99999160924781	0.932
18	33647216	C	G	18	36067253	y	y	splicing	RPRD1A(NM_018170:exon2:c.151+1G>C)	.	.	splicing	ENSG00000141425(ENST00000399022:exon2:c.151+1G>C;ENST00000357384:exon2:c.151+1G>C;ENST00000319040:exon2:c.151+1G>C;ENST00000589050:exon2:c.151+1G>C;ENST00000592674:exon2:c.151+1G>C)	.	.	0.99999160924781	0.932
18	33647216	C	T	18	36067253	y	y	splicing	RPRD1A(NM_018170:exon2:c.151+1G>A)	.	.	splicing	ENSG00000141425(ENST00000399022:exon2:c.151+1G>A;ENST00000357384:exon2:c.151+1G>A;ENST00000319040:exon2:c.151+1G>A;ENST00000589050:exon2:c.151+1G>A;ENST00000592674:exon2:c.151+1G>A)	.	.	0.99999160924781	0.932
18	33647217	C	A	18	36067254	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon1:c.G151T:p.A51S;	exonic	ENSG00000141425	stopgain SNV	ENSG00000141425:ENST00000592674:exon1:c.G151T:p.E51X;	0.999465747628025	0.948
18	33647217	C	G	18	36067254	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon1:c.G151C:p.A51P;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon1:c.G151C:p.E51Q;ENSG00000141425:ENST00000319040:exon1:c.G151C:p.A51P;ENSG00000141425:ENST00000589050:exon1:c.G151C:p.A51P;ENSG00000141425:ENST00000399022:exon1:c.G151C:p.A51P;ENSG00000141425:ENST00000357384:exon1:c.G151C:p.A51P;	0.999746707351868	0.924
18	33647217	C	T	18	36067254	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon1:c.G151A:p.A51T;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon1:c.G151A:p.E51K;ENSG00000141425:ENST00000319040:exon1:c.G151A:p.A51T;ENSG00000141425:ENST00000589050:exon1:c.G151A:p.A51T;ENSG00000141425:ENST00000399022:exon1:c.G151A:p.A51T;ENSG00000141425:ENST00000357384:exon1:c.G151A:p.A51T;	0.999659863694429	0.864
18	33647218	T	A	18	36067255	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon1:c.A150T:p.K50N;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon1:c.A150T:p.K50N;ENSG00000141425:ENST00000319040:exon1:c.A150T:p.K50N;ENSG00000141425:ENST00000589050:exon1:c.A150T:p.K50N;ENSG00000141425:ENST00000399022:exon1:c.A150T:p.K50N;ENSG00000141425:ENST00000357384:exon1:c.A150T:p.K50N;	0.525006043574428	0.474
18	33647218	T	C	18	36067255	y	y	exonic	RPRD1A	synonymous SNV	RPRD1A:NM_018170:exon1:c.A150G:p.K50K;	exonic	ENSG00000141425	synonymous SNV	ENSG00000141425:ENST00000592674:exon1:c.A150G:p.K50K;ENSG00000141425:ENST00000319040:exon1:c.A150G:p.K50K;ENSG00000141425:ENST00000589050:exon1:c.A150G:p.K50K;ENSG00000141425:ENST00000399022:exon1:c.A150G:p.K50K;ENSG00000141425:ENST00000357384:exon1:c.A150G:p.K50K;	0.535678292179271	0.58
18	33647218	T	G	18	36067255	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon1:c.A150C:p.K50N;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon1:c.A150C:p.K50N;ENSG00000141425:ENST00000319040:exon1:c.A150C:p.K50N;ENSG00000141425:ENST00000589050:exon1:c.A150C:p.K50N;ENSG00000141425:ENST00000399022:exon1:c.A150C:p.K50N;ENSG00000141425:ENST00000357384:exon1:c.A150C:p.K50N;	0.516032601730448	0.614
18	33647219	T	A	18	36067256	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon1:c.A149T:p.K50I;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon1:c.A149T:p.K50I;ENSG00000141425:ENST00000319040:exon1:c.A149T:p.K50I;ENSG00000141425:ENST00000589050:exon1:c.A149T:p.K50I;ENSG00000141425:ENST00000399022:exon1:c.A149T:p.K50I;ENSG00000141425:ENST00000357384:exon1:c.A149T:p.K50I;	0.873667730630852	0.508
18	33647219	T	C	18	36067256	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon1:c.A149G:p.K50R;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon1:c.A149G:p.K50R;ENSG00000141425:ENST00000319040:exon1:c.A149G:p.K50R;ENSG00000141425:ENST00000589050:exon1:c.A149G:p.K50R;ENSG00000141425:ENST00000399022:exon1:c.A149G:p.K50R;ENSG00000141425:ENST00000357384:exon1:c.A149G:p.K50R;	0.120611589624907	0.302
18	33647219	T	G	18	36067256	y	y	exonic	RPRD1A	nonsynonymous SNV	RPRD1A:NM_018170:exon1:c.A149C:p.K50T;	exonic	ENSG00000141425	nonsynonymous SNV	ENSG00000141425:ENST00000592674:exon1:c.A149C:p.K50T;ENSG00000141425:ENST00000319040:exon1:c.A149C:p.K50T;ENSG00000141425:ENST00000589050:exon1:c.A149C:p.K50T;ENSG00000141425:ENST00000399022:exon1:c.A149C:p.K50T;ENSG00000141425:ENST00000357384:exon1:c.A149C:p.K50T;	0.552225716033607	0.578
18	33689707	A	C	18	36109744	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon10:c.T2117G:p.V706G;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon10:c.T2117G:p.V706G;ENSG00000141424:ENST00000269187:exon10:c.T2117G:p.V706G;	0.355845237965253	0.47
18	33689707	A	G	18	36109744	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon10:c.T2117C:p.V706A;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon10:c.T2117C:p.V706A;ENSG00000141424:ENST00000269187:exon10:c.T2117C:p.V706A;	0.280460992696891	0.52
18	33689707	A	T	18	36109744	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon10:c.T2117A:p.V706E;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon10:c.T2117A:p.V706E;ENSG00000141424:ENST00000269187:exon10:c.T2117A:p.V706E;	0.174675823917027	0.516
18	33689708	C	A	18	36109745	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon10:c.G2116T:p.V706L;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon10:c.G2116T:p.V706L;ENSG00000141424:ENST00000269187:exon10:c.G2116T:p.V706L;	0.949128253061428	0.48
18	33689708	C	G	18	36109745	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon10:c.G2116C:p.V706L;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon10:c.G2116C:p.V706L;ENSG00000141424:ENST00000269187:exon10:c.G2116C:p.V706L;	0.606900594415728	0.506
18	33689708	C	T	18	36109745	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon10:c.G2116A:p.V706I;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon10:c.G2116A:p.V706I;ENSG00000141424:ENST00000269187:exon10:c.G2116A:p.V706I;	0.999265859530004	0.9
18	33689709	C	A	18	36109746	y	y	splicing	SLC39A6(NM_012319:exon11:c.2116-1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon11:c.2116-1G>T;ENST00000590986:exon11:c.2116-1G>T)	.	.	0.999993288802665	0.928
18	33689709	C	G	18	36109746	y	y	splicing	SLC39A6(NM_012319:exon11:c.2116-1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon11:c.2116-1G>C;ENST00000590986:exon11:c.2116-1G>C)	.	.	0.999993288802665	0.928
18	33689709	C	T	18	36109746	y	y	splicing	SLC39A6(NM_012319:exon11:c.2116-1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon11:c.2116-1G>A;ENST00000590986:exon11:c.2116-1G>A)	.	.	0.999993288802665	0.928
18	33689710	T	A	18	36109747	y	y	splicing	SLC39A6(NM_012319:exon11:c.2116-2A>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon11:c.2116-2A>T;ENST00000590986:exon11:c.2116-2A>T)	.	.	0.999988247793601	0.926
18	33689710	T	C	18	36109747	y	y	splicing	SLC39A6(NM_012319:exon11:c.2116-2A>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon11:c.2116-2A>G;ENST00000590986:exon11:c.2116-2A>G)	.	.	0.999988247793601	0.926
18	33689710	T	G	18	36109747	y	y	splicing	SLC39A6(NM_012319:exon11:c.2116-2A>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon11:c.2116-2A>C;ENST00000590986:exon11:c.2116-2A>C)	.	.	0.999988247793601	0.926
18	33689711	T	A	18	36109748	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.60854826975696E-6	0.0
18	33689711	T	C	18	36109748	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0085702570668273	0.232
18	33689711	T	G	18	36109748	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.54155500050567E-5	0.008
18	33689712	T	A	18	36109749	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.1596240617924E-4	0.07
18	33689712	T	C	18	36109749	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.25576153265281E-4	0.028
18	33689712	T	G	18	36109749	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.71103898855293E-5	0.134
18	33689713	A	C	18	36109750	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0040640475209795	0.214
18	33689713	A	G	18	36109750	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.93328683244445E-5	0.034
18	33689713	A	T	18	36109750	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00115765874395748	0.182
18	33689714	A	C	18	36109751	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00159530859187057	0.134
18	33689714	A	G	18	36109751	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.89100929339568E-6	0.006
18	33689714	A	T	18	36109751	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00150299190271903	0.154
18	33689715	A	C	18	36109752	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.3438239608214E-4	0.038
18	33689715	A	G	18	36109752	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.2758111614451E-5	0.008
18	33689715	A	T	18	36109752	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.49830735734141E-4	0.028
18	33689716	A	C	18	36109753	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.30561129282072E-4	0.056
18	33689716	A	G	18	36109753	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.68133215594726E-5	0.0
18	33689716	A	T	18	36109753	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00199444551401651	0.052
18	33689717	A	C	18	36109754	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.522506329283E-4	0.124
18	33689717	A	G	18	36109754	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.87708809748002E-5	0.004
18	33689717	A	T	18	36109754	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.14730512214403E-4	0.222
18	33689718	A	C	18	36109755	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.31964776616389E-4	0.126
18	33689718	A	G	18	36109755	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.43758035409107E-4	0.004
18	33689718	A	T	18	36109755	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.05530316650312E-4	0.094
18	33689719	A	C	18	36109756	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.00319138390178E-4	0.074
18	33689719	A	G	18	36109756	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.38552045820583E-5	0.01
18	33689719	A	T	18	36109756	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.56462090688927E-4	0.098
18	33689720	A	C	18	36109757	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.44032929734184E-4	0.106
18	33689720	A	G	18	36109757	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.78970329072019E-5	0.0
18	33689720	A	T	18	36109757	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.09675221294709E-4	0.082
18	33691211	A	C	18	36111248	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon9:c.T1926G:p.G642G;SLC39A6:NM_001099406:exon8:c.T1101G:p.G367G;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon8:c.T1101G:p.G367G;ENSG00000141424:ENST00000586829:exon5:c.T627G:p.G209G;ENSG00000141424:ENST00000590986:exon9:c.T1926G:p.G642G;ENSG00000141424:ENST00000269187:exon9:c.T1926G:p.G642G;	0.0436253920163747	0.212
18	33691211	A	G	18	36111248	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon9:c.T1926C:p.G642G;SLC39A6:NM_001099406:exon8:c.T1101C:p.G367G;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon8:c.T1101C:p.G367G;ENSG00000141424:ENST00000586829:exon5:c.T627C:p.G209G;ENSG00000141424:ENST00000590986:exon9:c.T1926C:p.G642G;ENSG00000141424:ENST00000269187:exon9:c.T1926C:p.G642G;	0.0598713817882675	0.222
18	33691211	A	T	18	36111248	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon9:c.T1926A:p.G642G;SLC39A6:NM_001099406:exon8:c.T1101A:p.G367G;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon8:c.T1101A:p.G367G;ENSG00000141424:ENST00000586829:exon5:c.T627A:p.G209G;ENSG00000141424:ENST00000590986:exon9:c.T1926A:p.G642G;ENSG00000141424:ENST00000269187:exon9:c.T1926A:p.G642G;	0.0761152153472377	0.3
18	33691212	C	A	18	36111249	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon9:c.G1925T:p.G642V;SLC39A6:NM_001099406:exon8:c.G1100T:p.G367V;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon8:c.G1100T:p.G367V;ENSG00000141424:ENST00000586829:exon5:c.G626T:p.G209V;ENSG00000141424:ENST00000590986:exon9:c.G1925T:p.G642V;ENSG00000141424:ENST00000269187:exon9:c.G1925T:p.G642V;	0.999874979447259	0.992
18	33691212	C	G	18	36111249	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon9:c.G1925C:p.G642A;SLC39A6:NM_001099406:exon8:c.G1100C:p.G367A;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon8:c.G1100C:p.G367A;ENSG00000141424:ENST00000586829:exon5:c.G626C:p.G209A;ENSG00000141424:ENST00000590986:exon9:c.G1925C:p.G642A;ENSG00000141424:ENST00000269187:exon9:c.G1925C:p.G642A;	0.999830652945606	0.972
18	33691212	C	T	18	36111249	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon9:c.G1925A:p.G642D;SLC39A6:NM_001099406:exon8:c.G1100A:p.G367D;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon8:c.G1100A:p.G367D;ENSG00000141424:ENST00000586829:exon5:c.G626A:p.G209D;ENSG00000141424:ENST00000590986:exon9:c.G1925A:p.G642D;ENSG00000141424:ENST00000269187:exon9:c.G1925A:p.G642D;	0.998808392763978	0.954
18	33691213	C	A	18	36111250	y	y	splicing	SLC39A6(NM_012319:exon10:c.1925-1G>T;NM_001099406:exon9:c.1100-1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon10:c.1925-1G>T;ENST00000590986:exon10:c.1925-1G>T;ENST00000440549:exon9:c.1100-1G>T;ENST00000586829:exon6:c.626-1G>T)	.	.	0.999989072007339	0.934
18	33691213	C	G	18	36111250	y	y	splicing	SLC39A6(NM_012319:exon10:c.1925-1G>C;NM_001099406:exon9:c.1100-1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon10:c.1925-1G>C;ENST00000590986:exon10:c.1925-1G>C;ENST00000440549:exon9:c.1100-1G>C;ENST00000586829:exon6:c.626-1G>C)	.	.	0.999989072007339	0.934
18	33691213	C	T	18	36111250	y	y	splicing	SLC39A6(NM_012319:exon10:c.1925-1G>A;NM_001099406:exon9:c.1100-1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon10:c.1925-1G>A;ENST00000590986:exon10:c.1925-1G>A;ENST00000440549:exon9:c.1100-1G>A;ENST00000586829:exon6:c.626-1G>A)	.	.	0.999989072007339	0.934
18	33691214	T	A	18	36111251	y	y	splicing	SLC39A6(NM_012319:exon10:c.1925-2A>T;NM_001099406:exon9:c.1100-2A>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon10:c.1925-2A>T;ENST00000590986:exon10:c.1925-2A>T;ENST00000440549:exon9:c.1100-2A>T;ENST00000586829:exon6:c.626-2A>T)	.	.	0.999988247793601	0.932
18	33691214	T	C	18	36111251	y	y	splicing	SLC39A6(NM_012319:exon10:c.1925-2A>G;NM_001099406:exon9:c.1100-2A>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon10:c.1925-2A>G;ENST00000590986:exon10:c.1925-2A>G;ENST00000440549:exon9:c.1100-2A>G;ENST00000586829:exon6:c.626-2A>G)	.	.	0.999988247793601	0.93
18	33691214	T	G	18	36111251	y	y	splicing	SLC39A6(NM_012319:exon10:c.1925-2A>C;NM_001099406:exon9:c.1100-2A>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon10:c.1925-2A>C;ENST00000590986:exon10:c.1925-2A>C;ENST00000440549:exon9:c.1100-2A>C;ENST00000586829:exon6:c.626-2A>C)	.	.	0.999988247793601	0.932
18	33691215	T	A	18	36111252	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00118656336962732	0.008
18	33691215	T	C	18	36111252	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0534448586851404	0.282
18	33691215	T	G	18	36111252	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00138181426427378	0.054
18	33691216	T	A	18	36111253	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00456744116710776	0.066
18	33691216	T	C	18	36111253	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00379287247423424	0.04
18	33691216	T	G	18	36111253	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00386925072619745	0.018
18	33691217	A	C	18	36111254	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0216068497492126	0.23
18	33691217	A	G	18	36111254	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.77867762117772E-4	0.01
18	33691217	A	T	18	36111254	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0271330807466128	0.224
18	33691218	A	C	18	36111255	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.605443403885246	0.478
18	33691218	A	G	18	36111255	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00237857484115195	0.054
18	33691218	A	T	18	36111255	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.377935191638439	0.446
18	33691219	C	A	18	36111256	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.08826861766256E-4	0.0
18	33691219	C	G	18	36111256	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.46478331815331E-4	0.002
18	33691219	C	T	18	36111256	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.84835082825123E-4	0.002
18	33691220	A	C	18	36111257	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.367984938545293	0.394
18	33691220	A	G	18	36111257	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.31283638305606E-4	0.016
18	33691220	A	T	18	36111257	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999580727854527	0.986
18	33691221	G	A	18	36111258	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.1821454852524E-5	0.002
18	33691221	G	C	18	36111258	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.18767395968832E-4	0.054
18	33691221	G	T	18	36111258	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.19175650642224E-4	0.042
18	33691222	A	C	18	36111259	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.363366337645457	0.434
18	33691222	A	G	18	36111259	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00188804888716932	0.028
18	33691222	A	T	18	36111259	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.38799708166056	0.486
18	33691223	A	C	18	36111260	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.111063224500851	0.378
18	33691223	A	G	18	36111260	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00899922738994874	0.166
18	33691223	A	T	18	36111260	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.304181196576427	0.436
18	33691224	A	C	18	36111261	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00203546043035917	0.096
18	33691224	A	G	18	36111261	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.03594373154322E-5	0.0
18	33691224	A	T	18	36111261	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00177818048295093	0.122
18	33692456	T	A	18	36112493	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.09316813601654E-5	0.004
18	33692456	T	C	18	36112493	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.83451585927357E-5	0.0
18	33692456	T	G	18	36112493	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.3995392500311E-5	0.0
18	33692457	C	A	18	36112494	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.73659410988803E-5	0.004
18	33692457	C	G	18	36112494	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.30477579161392E-5	0.0
18	33692457	C	T	18	36112494	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.30477579161392E-5	0.0
18	33692458	T	A	18	36112495	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.82562401434539E-5	0.01
18	33692458	T	C	18	36112495	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.21230776286119E-4	0.074
18	33692458	T	G	18	36112495	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.78821221564018E-4	0.082
18	33692459	C	A	18	36112496	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.996247803439939	0.754
18	33692459	C	G	18	36112496	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.993439917948955	0.824
18	33692459	C	T	18	36112496	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.99975329574294	0.898
18	33692460	T	A	18	36112497	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.965326996205133	0.682
18	33692460	T	C	18	36112497	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.945855892555049	0.662
18	33692460	T	G	18	36112497	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.875371344299965	0.652
18	33692461	T	A	18	36112498	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.987594065916859	0.694
18	33692461	T	C	18	36112498	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0333518403469024	0.156
18	33692461	T	G	18	36112498	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.973230048859228	0.688
18	33692462	A	C	18	36112499	y	y	splicing	SLC39A6(NM_012319:exon9:c.1924+2T>G;NM_001099406:exon8:c.1099+2T>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1924+2T>G;ENST00000590986:exon9:c.1924+2T>G;ENST00000440549:exon8:c.1099+2T>G;ENST00000586829:exon5:c.625+2T>G)	.	.	0.999988247793601	0.932
18	33692462	A	G	18	36112499	y	y	splicing	SLC39A6(NM_012319:exon9:c.1924+2T>C;NM_001099406:exon8:c.1099+2T>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1924+2T>C;ENST00000590986:exon9:c.1924+2T>C;ENST00000440549:exon8:c.1099+2T>C;ENST00000586829:exon5:c.625+2T>C)	.	.	0.9980302609493	0.722
18	33692462	A	T	18	36112499	y	y	splicing	SLC39A6(NM_012319:exon9:c.1924+2T>A;NM_001099406:exon8:c.1099+2T>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1924+2T>A;ENST00000590986:exon9:c.1924+2T>A;ENST00000440549:exon8:c.1099+2T>A;ENST00000586829:exon5:c.625+2T>A)	.	.	0.999988247793601	0.932
18	33692463	C	A	18	36112500	y	y	splicing	SLC39A6(NM_012319:exon9:c.1924+1G>T;NM_001099406:exon8:c.1099+1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1924+1G>T;ENST00000590986:exon9:c.1924+1G>T;ENST00000440549:exon8:c.1099+1G>T;ENST00000586829:exon5:c.625+1G>T)	.	.	0.999990361384395	0.938
18	33692463	C	G	18	36112500	y	y	splicing	SLC39A6(NM_012319:exon9:c.1924+1G>C;NM_001099406:exon8:c.1099+1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1924+1G>C;ENST00000590986:exon9:c.1924+1G>C;ENST00000440549:exon8:c.1099+1G>C;ENST00000586829:exon5:c.625+1G>C)	.	.	0.999990361384395	0.938
18	33692463	C	T	18	36112500	y	y	splicing	SLC39A6(NM_012319:exon9:c.1924+1G>A;NM_001099406:exon8:c.1099+1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1924+1G>A;ENST00000590986:exon9:c.1924+1G>A;ENST00000440549:exon8:c.1099+1G>A;ENST00000586829:exon5:c.625+1G>A)	.	.	0.999990361384395	0.938
18	33692464	C	A	18	36112501	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.G1924T:p.G642C;SLC39A6:NM_001099406:exon7:c.G1099T:p.G367C;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.G1099T:p.G367C;ENSG00000141424:ENST00000586829:exon4:c.G625T:p.G209C;ENSG00000141424:ENST00000590986:exon8:c.G1924T:p.G642C;ENSG00000141424:ENST00000269187:exon8:c.G1924T:p.G642C;	0.999985941491231	0.992
18	33692464	C	G	18	36112501	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.G1924C:p.G642R;SLC39A6:NM_001099406:exon7:c.G1099C:p.G367R;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.G1099C:p.G367R;ENSG00000141424:ENST00000586829:exon4:c.G625C:p.G209R;ENSG00000141424:ENST00000590986:exon8:c.G1924C:p.G642R;ENSG00000141424:ENST00000269187:exon8:c.G1924C:p.G642R;	0.999983248627313	0.978
18	33692464	C	T	18	36112501	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.G1924A:p.G642S;SLC39A6:NM_001099406:exon7:c.G1099A:p.G367S;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.G1099A:p.G367S;ENSG00000141424:ENST00000586829:exon4:c.G625A:p.G209S;ENSG00000141424:ENST00000590986:exon8:c.G1924A:p.G642S;ENSG00000141424:ENST00000269187:exon8:c.G1924A:p.G642S;	0.999980805457807	0.974
18	33692465	T	A	18	36112502	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.A1923T:p.L641F;SLC39A6:NM_001099406:exon7:c.A1098T:p.L366F;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.A1098T:p.L366F;ENSG00000141424:ENST00000586829:exon4:c.A624T:p.L208F;ENSG00000141424:ENST00000590986:exon8:c.A1923T:p.L641F;ENSG00000141424:ENST00000269187:exon8:c.A1923T:p.L641F;	0.623744903602058	0.706
18	33692465	T	C	18	36112502	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon8:c.A1923G:p.L641L;SLC39A6:NM_001099406:exon7:c.A1098G:p.L366L;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.A1098G:p.L366L;ENSG00000141424:ENST00000586829:exon4:c.A624G:p.L208L;ENSG00000141424:ENST00000590986:exon8:c.A1923G:p.L641L;ENSG00000141424:ENST00000269187:exon8:c.A1923G:p.L641L;	0.202913159974768	0.552
18	33692465	T	G	18	36112502	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.A1923C:p.L641F;SLC39A6:NM_001099406:exon7:c.A1098C:p.L366F;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.A1098C:p.L366F;ENSG00000141424:ENST00000586829:exon4:c.A624C:p.L208F;ENSG00000141424:ENST00000590986:exon8:c.A1923C:p.L641F;ENSG00000141424:ENST00000269187:exon8:c.A1923C:p.L641F;	0.479863693748774	0.728
18	33692466	A	C	18	36112503	y	y	exonic	SLC39A6	stopgain SNV	SLC39A6:NM_012319:exon8:c.T1922G:p.L641X;SLC39A6:NM_001099406:exon7:c.T1097G:p.L366X;	exonic	ENSG00000141424	stopgain SNV	ENSG00000141424:ENST00000440549:exon7:c.T1097G:p.L366X;ENSG00000141424:ENST00000586829:exon4:c.T623G:p.L208X;ENSG00000141424:ENST00000590986:exon8:c.T1922G:p.L641X;ENSG00000141424:ENST00000269187:exon8:c.T1922G:p.L641X;	0.823789168205076	0.84
18	33692466	A	G	18	36112503	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.T1922C:p.L641S;SLC39A6:NM_001099406:exon7:c.T1097C:p.L366S;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.T1097C:p.L366S;ENSG00000141424:ENST00000586829:exon4:c.T623C:p.L208S;ENSG00000141424:ENST00000590986:exon8:c.T1922C:p.L641S;ENSG00000141424:ENST00000269187:exon8:c.T1922C:p.L641S;	0.676482151470728	0.714
18	33692466	A	T	18	36112503	y	y	exonic	SLC39A6	stopgain SNV	SLC39A6:NM_012319:exon8:c.T1922A:p.L641X;SLC39A6:NM_001099406:exon7:c.T1097A:p.L366X;	exonic	ENSG00000141424	stopgain SNV	ENSG00000141424:ENST00000440549:exon7:c.T1097A:p.L366X;ENSG00000141424:ENST00000586829:exon4:c.T623A:p.L208X;ENSG00000141424:ENST00000590986:exon8:c.T1922A:p.L641X;ENSG00000141424:ENST00000269187:exon8:c.T1922A:p.L641X;	0.74702229933833	0.794
18	33692543	A	C	18	36112580	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon8:c.T1845G:p.G615G;SLC39A6:NM_001099406:exon7:c.T1020G:p.G340G;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.T1020G:p.G340G;ENSG00000141424:ENST00000586829:exon4:c.T546G:p.G182G;ENSG00000141424:ENST00000590986:exon8:c.T1845G:p.G615G;ENSG00000141424:ENST00000269187:exon8:c.T1845G:p.G615G;	0.0037872158396557	0.226
18	33692543	A	G	18	36112580	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon8:c.T1845C:p.G615G;SLC39A6:NM_001099406:exon7:c.T1020C:p.G340G;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.T1020C:p.G340G;ENSG00000141424:ENST00000586829:exon4:c.T546C:p.G182G;ENSG00000141424:ENST00000590986:exon8:c.T1845C:p.G615G;ENSG00000141424:ENST00000269187:exon8:c.T1845C:p.G615G;	0.00150523882148017	0.116
18	33692543	A	T	18	36112580	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon8:c.T1845A:p.G615G;SLC39A6:NM_001099406:exon7:c.T1020A:p.G340G;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.T1020A:p.G340G;ENSG00000141424:ENST00000586829:exon4:c.T546A:p.G182G;ENSG00000141424:ENST00000590986:exon8:c.T1845A:p.G615G;ENSG00000141424:ENST00000269187:exon8:c.T1845A:p.G615G;	0.00433245319939272	0.152
18	33692544	C	A	18	36112581	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.G1844T:p.G615V;SLC39A6:NM_001099406:exon7:c.G1019T:p.G340V;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.G1019T:p.G340V;ENSG00000141424:ENST00000586829:exon4:c.G545T:p.G182V;ENSG00000141424:ENST00000590986:exon8:c.G1844T:p.G615V;ENSG00000141424:ENST00000269187:exon8:c.G1844T:p.G615V;	0.999943803476757	0.996
18	33692544	C	G	18	36112581	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.G1844C:p.G615A;SLC39A6:NM_001099406:exon7:c.G1019C:p.G340A;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.G1019C:p.G340A;ENSG00000141424:ENST00000586829:exon4:c.G545C:p.G182A;ENSG00000141424:ENST00000590986:exon8:c.G1844C:p.G615A;ENSG00000141424:ENST00000269187:exon8:c.G1844C:p.G615A;	0.9998425385386	0.984
18	33692544	C	T	18	36112581	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon8:c.G1844A:p.G615D;SLC39A6:NM_001099406:exon7:c.G1019A:p.G340D;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon7:c.G1019A:p.G340D;ENSG00000141424:ENST00000586829:exon4:c.G545A:p.G182D;ENSG00000141424:ENST00000590986:exon8:c.G1844A:p.G615D;ENSG00000141424:ENST00000269187:exon8:c.G1844A:p.G615D;	0.999164982656586	0.95
18	33692545	C	A	18	36112582	y	y	splicing	SLC39A6(NM_012319:exon9:c.1844-1G>T;NM_001099406:exon8:c.1019-1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1844-1G>T;ENST00000590986:exon9:c.1844-1G>T;ENST00000440549:exon8:c.1019-1G>T;ENST00000586829:exon5:c.545-1G>T)	.	.	0.999990361384395	0.938
18	33692545	C	G	18	36112582	y	y	splicing	SLC39A6(NM_012319:exon9:c.1844-1G>C;NM_001099406:exon8:c.1019-1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1844-1G>C;ENST00000590986:exon9:c.1844-1G>C;ENST00000440549:exon8:c.1019-1G>C;ENST00000586829:exon5:c.545-1G>C)	.	.	0.999990361384395	0.938
18	33692545	C	T	18	36112582	y	y	splicing	SLC39A6(NM_012319:exon9:c.1844-1G>A;NM_001099406:exon8:c.1019-1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1844-1G>A;ENST00000590986:exon9:c.1844-1G>A;ENST00000440549:exon8:c.1019-1G>A;ENST00000586829:exon5:c.545-1G>A)	.	.	0.999990361384395	0.938
18	33692546	T	A	18	36112583	y	y	splicing	SLC39A6(NM_012319:exon9:c.1844-2A>T;NM_001099406:exon8:c.1019-2A>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1844-2A>T;ENST00000590986:exon9:c.1844-2A>T;ENST00000440549:exon8:c.1019-2A>T;ENST00000586829:exon5:c.545-2A>T)	.	.	0.999988247793601	0.932
18	33692546	T	C	18	36112583	y	y	splicing	SLC39A6(NM_012319:exon9:c.1844-2A>G;NM_001099406:exon8:c.1019-2A>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1844-2A>G;ENST00000590986:exon9:c.1844-2A>G;ENST00000440549:exon8:c.1019-2A>G;ENST00000586829:exon5:c.545-2A>G)	.	.	0.999988247793601	0.932
18	33692546	T	G	18	36112583	y	y	splicing	SLC39A6(NM_012319:exon9:c.1844-2A>C;NM_001099406:exon8:c.1019-2A>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon9:c.1844-2A>C;ENST00000590986:exon9:c.1844-2A>C;ENST00000440549:exon8:c.1019-2A>C;ENST00000586829:exon5:c.545-2A>C)	.	.	0.999988247793601	0.932
18	33692547	G	A	18	36112584	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.061871179752575	0.13
18	33692547	G	C	18	36112584	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999879204865394	0.966
18	33692547	G	T	18	36112584	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.996186374734895	0.888
18	33692548	T	A	18	36112585	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.04607562268602E-4	0.028
18	33692548	T	C	18	36112585	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.06794345807586E-4	0.042
18	33692548	T	G	18	36112585	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.12229511110557E-4	0.014
18	33692549	G	A	18	36112586	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.10261755594663E-5	0.002
18	33692549	G	C	18	36112586	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999715817961961	0.96
18	33692549	G	T	18	36112586	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00106184003405483	0.104
18	33692550	T	A	18	36112587	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.894930922846E-5	0.02
18	33692550	T	C	18	36112587	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.02924237569613E-4	0.048
18	33692550	T	G	18	36112587	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.54199766101786E-4	0.032
18	33692551	A	C	18	36112588	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0297829592065867	0.152
18	33692551	A	G	18	36112588	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.18984961392836E-5	0.018
18	33692551	A	T	18	36112588	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.438363005512822	0.386
18	33692552	A	C	18	36112589	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.789922541931878	0.446
18	33692552	A	G	18	36112589	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00469664274803421	0.052
18	33692552	A	T	18	36112589	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.632423068122144	0.61
18	33692553	A	C	18	36112590	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.928653697519861	0.724
18	33692553	A	G	18	36112590	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00209087359641101	0.05
18	33692553	A	T	18	36112590	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.977701936698637	0.802
18	33692554	A	C	18	36112591	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.569146873469223	0.444
18	33692554	A	G	18	36112591	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.28898617213435E-5	0.156
18	33692554	A	T	18	36112591	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.965252034284402	0.544
18	33692555	A	C	18	36112592	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999957506114657	0.922
18	33692555	A	G	18	36112592	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.98995830017902E-4	0.178
18	33692555	A	T	18	36112592	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.972013233984845	0.684
18	33692556	T	A	18	36112593	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.67097440825556E-4	0.142
18	33692556	T	C	18	36112593	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.12762566370652E-5	0.056
18	33692556	T	G	18	36112593	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.90328786816187E-5	0.088
18	33694052	A	C	18	36114089	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.82827935381688E-5	0.006
18	33694052	A	G	18	36114089	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.22660495981372E-5	0.004
18	33694052	A	T	18	36114089	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.42509871343545E-5	0.004
18	33694053	T	A	18	36114090	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.65895351694164E-5	0.006
18	33694053	T	C	18	36114090	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.36210014750516E-5	0.016
18	33694053	T	G	18	36114090	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.19310584675344E-5	0.002
18	33694054	A	C	18	36114091	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0642731963408609	0.478
18	33694054	A	G	18	36114091	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.120875433800593	0.516
18	33694054	A	T	18	36114091	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.15703083577258	0.512
18	33694055	T	A	18	36114092	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.89276397329036E-4	0.1
18	33694055	T	C	18	36114092	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.57534651715922E-4	0.138
18	33694055	T	G	18	36114092	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00537521037428429	0.072
18	33694056	A	C	18	36114093	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00892214403493252	0.086
18	33694056	A	G	18	36114093	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0016601528457857	0.114
18	33694056	A	T	18	36114093	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.45755597167031E-4	0.2
18	33694057	T	A	18	36114094	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999959686260528	0.928
18	33694057	T	C	18	36114094	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999020015929216	0.806
18	33694057	T	G	18	36114094	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999959686260528	0.928
18	33694058	A	C	18	36114095	y	y	splicing	SLC39A6(NM_012319:exon8:c.1843+2T>G;NM_001099406:exon7:c.1018+2T>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1843+2T>G;ENST00000590986:exon8:c.1843+2T>G;ENST00000440549:exon7:c.1018+2T>G;ENST00000586829:exon4:c.544+2T>G)	.	.	0.999961358093054	0.904
18	33694058	A	G	18	36114095	y	y	splicing	SLC39A6(NM_012319:exon8:c.1843+2T>C;NM_001099406:exon7:c.1018+2T>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1843+2T>C;ENST00000590986:exon8:c.1843+2T>C;ENST00000440549:exon7:c.1018+2T>C;ENST00000586829:exon4:c.544+2T>C)	.	.	0.996401185043412	0.758
18	33694058	A	T	18	36114095	y	y	splicing	SLC39A6(NM_012319:exon8:c.1843+2T>A;NM_001099406:exon7:c.1018+2T>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1843+2T>A;ENST00000590986:exon8:c.1843+2T>A;ENST00000440549:exon7:c.1018+2T>A;ENST00000586829:exon4:c.544+2T>A)	.	.	0.999961358093054	0.906
18	33694059	C	A	18	36114096	y	y	splicing	SLC39A6(NM_012319:exon8:c.1843+1G>T;NM_001099406:exon7:c.1018+1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1843+1G>T;ENST00000590986:exon8:c.1843+1G>T;ENST00000440549:exon7:c.1018+1G>T;ENST00000586829:exon4:c.544+1G>T)	.	.	0.999990108333982	0.906
18	33694059	C	G	18	36114096	y	y	splicing	SLC39A6(NM_012319:exon8:c.1843+1G>C;NM_001099406:exon7:c.1018+1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1843+1G>C;ENST00000590986:exon8:c.1843+1G>C;ENST00000440549:exon7:c.1018+1G>C;ENST00000586829:exon4:c.544+1G>C)	.	.	0.999990108333982	0.906
18	33694059	C	T	18	36114096	y	y	splicing	SLC39A6(NM_012319:exon8:c.1843+1G>A;NM_001099406:exon7:c.1018+1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1843+1G>A;ENST00000590986:exon8:c.1843+1G>A;ENST00000440549:exon7:c.1018+1G>A;ENST00000586829:exon4:c.544+1G>A)	.	.	0.999990108333982	0.904
18	33694060	C	A	18	36114097	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.G1843T:p.G615C;SLC39A6:NM_001099406:exon6:c.G1018T:p.G340C;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.G1018T:p.G340C;ENSG00000141424:ENST00000586829:exon3:c.G544T:p.G182C;ENSG00000141424:ENST00000590986:exon7:c.G1843T:p.G615C;ENSG00000141424:ENST00000269187:exon7:c.G1843T:p.G615C;	0.999991579361104	0.998
18	33694060	C	G	18	36114097	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.G1843C:p.G615R;SLC39A6:NM_001099406:exon6:c.G1018C:p.G340R;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.G1018C:p.G340R;ENSG00000141424:ENST00000586829:exon3:c.G544C:p.G182R;ENSG00000141424:ENST00000590986:exon7:c.G1843C:p.G615R;ENSG00000141424:ENST00000269187:exon7:c.G1843C:p.G615R;	0.999993508169691	0.986
18	33694060	C	T	18	36114097	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.G1843A:p.G615S;SLC39A6:NM_001099406:exon6:c.G1018A:p.G340S;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.G1018A:p.G340S;ENSG00000141424:ENST00000586829:exon3:c.G544A:p.G182S;ENSG00000141424:ENST00000590986:exon7:c.G1843A:p.G615S;ENSG00000141424:ENST00000269187:exon7:c.G1843A:p.G615S;	0.999995620776269	0.996
18	33694061	A	C	18	36114098	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.T1842G:p.I614M;SLC39A6:NM_001099406:exon6:c.T1017G:p.I339M;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.T1017G:p.I339M;ENSG00000141424:ENST00000586829:exon3:c.T543G:p.I181M;ENSG00000141424:ENST00000590986:exon7:c.T1842G:p.I614M;ENSG00000141424:ENST00000269187:exon7:c.T1842G:p.I614M;	4.4026648303286E-4	0.248
18	33694061	A	G	18	36114098	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon7:c.T1842C:p.I614I;SLC39A6:NM_001099406:exon6:c.T1017C:p.I339I;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.T1017C:p.I339I;ENSG00000141424:ENST00000586829:exon3:c.T543C:p.I181I;ENSG00000141424:ENST00000590986:exon7:c.T1842C:p.I614I;ENSG00000141424:ENST00000269187:exon7:c.T1842C:p.I614I;	0.00242017543496432	0.274
18	33694061	A	T	18	36114098	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon7:c.T1842A:p.I614I;SLC39A6:NM_001099406:exon6:c.T1017A:p.I339I;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.T1017A:p.I339I;ENSG00000141424:ENST00000586829:exon3:c.T543A:p.I181I;ENSG00000141424:ENST00000590986:exon7:c.T1842A:p.I614I;ENSG00000141424:ENST00000269187:exon7:c.T1842A:p.I614I;	0.00162760144818431	0.176
18	33694062	A	C	18	36114099	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.T1841G:p.I614S;SLC39A6:NM_001099406:exon6:c.T1016G:p.I339S;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.T1016G:p.I339S;ENSG00000141424:ENST00000586829:exon3:c.T542G:p.I181S;ENSG00000141424:ENST00000590986:exon7:c.T1841G:p.I614S;ENSG00000141424:ENST00000269187:exon7:c.T1841G:p.I614S;	0.628582604134396	0.624
18	33694062	A	G	18	36114099	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.T1841C:p.I614T;SLC39A6:NM_001099406:exon6:c.T1016C:p.I339T;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.T1016C:p.I339T;ENSG00000141424:ENST00000586829:exon3:c.T542C:p.I181T;ENSG00000141424:ENST00000590986:exon7:c.T1841C:p.I614T;ENSG00000141424:ENST00000269187:exon7:c.T1841C:p.I614T;	0.619488689311809	0.626
18	33694062	A	T	18	36114099	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.T1841A:p.I614N;SLC39A6:NM_001099406:exon6:c.T1016A:p.I339N;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.T1016A:p.I339N;ENSG00000141424:ENST00000586829:exon3:c.T542A:p.I181N;ENSG00000141424:ENST00000590986:exon7:c.T1841A:p.I614N;ENSG00000141424:ENST00000269187:exon7:c.T1841A:p.I614N;	0.653334546298194	0.66
18	33694436	T	A	18	36114473	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon7:c.A1467T:p.R489R;SLC39A6:NM_001099406:exon6:c.A642T:p.R214R;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.A642T:p.R214R;ENSG00000141424:ENST00000586829:exon3:c.A168T:p.R56R;ENSG00000141424:ENST00000590986:exon7:c.A1467T:p.R489R;ENSG00000141424:ENST00000269187:exon7:c.A1467T:p.R489R;	2.30461884816975E-4	0.006
18	33694436	T	C	18	36114473	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon7:c.A1467G:p.R489R;SLC39A6:NM_001099406:exon6:c.A642G:p.R214R;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.A642G:p.R214R;ENSG00000141424:ENST00000586829:exon3:c.A168G:p.R56R;ENSG00000141424:ENST00000590986:exon7:c.A1467G:p.R489R;ENSG00000141424:ENST00000269187:exon7:c.A1467G:p.R489R;	9.81978355992095E-4	0.018
18	33694436	T	G	18	36114473	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon7:c.A1467C:p.R489R;SLC39A6:NM_001099406:exon6:c.A642C:p.R214R;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.A642C:p.R214R;ENSG00000141424:ENST00000586829:exon3:c.A168C:p.R56R;ENSG00000141424:ENST00000590986:exon7:c.A1467C:p.R489R;ENSG00000141424:ENST00000269187:exon7:c.A1467C:p.R489R;	0.00188929745934073	0.048
18	33694437	C	A	18	36114474	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.G1466T:p.R489L;SLC39A6:NM_001099406:exon6:c.G641T:p.R214L;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.G641T:p.R214L;ENSG00000141424:ENST00000586829:exon3:c.G167T:p.R56L;ENSG00000141424:ENST00000590986:exon7:c.G1466T:p.R489L;ENSG00000141424:ENST00000269187:exon7:c.G1466T:p.R489L;	0.997738112575563	0.982
18	33694437	C	G	18	36114474	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.G1466C:p.R489P;SLC39A6:NM_001099406:exon6:c.G641C:p.R214P;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.G641C:p.R214P;ENSG00000141424:ENST00000586829:exon3:c.G167C:p.R56P;ENSG00000141424:ENST00000590986:exon7:c.G1466C:p.R489P;ENSG00000141424:ENST00000269187:exon7:c.G1466C:p.R489P;	0.998991967164195	0.972
18	33694437	C	T	18	36114474	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon7:c.G1466A:p.R489Q;SLC39A6:NM_001099406:exon6:c.G641A:p.R214Q;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon6:c.G641A:p.R214Q;ENSG00000141424:ENST00000586829:exon3:c.G167A:p.R56Q;ENSG00000141424:ENST00000590986:exon7:c.G1466A:p.R489Q;ENSG00000141424:ENST00000269187:exon7:c.G1466A:p.R489Q;	0.953591709360177	0.698
18	33694438	C	A	18	36114475	y	y	splicing	SLC39A6(NM_012319:exon8:c.1466-1G>T;NM_001099406:exon7:c.641-1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1466-1G>T;ENST00000590986:exon8:c.1466-1G>T;ENST00000440549:exon7:c.641-1G>T;ENST00000586829:exon4:c.167-1G>T)	.	.	0.999985532734767	0.946
18	33694438	C	G	18	36114475	y	y	splicing	SLC39A6(NM_012319:exon8:c.1466-1G>C;NM_001099406:exon7:c.641-1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1466-1G>C;ENST00000590986:exon8:c.1466-1G>C;ENST00000440549:exon7:c.641-1G>C;ENST00000586829:exon4:c.167-1G>C)	.	.	0.999985532734767	0.946
18	33694438	C	T	18	36114475	y	y	splicing	SLC39A6(NM_012319:exon8:c.1466-1G>A;NM_001099406:exon7:c.641-1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1466-1G>A;ENST00000590986:exon8:c.1466-1G>A;ENST00000440549:exon7:c.641-1G>A;ENST00000586829:exon4:c.167-1G>A)	.	.	0.999985532734767	0.946
18	33694439	T	A	18	36114476	y	y	splicing	SLC39A6(NM_012319:exon8:c.1466-2A>T;NM_001099406:exon7:c.641-2A>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1466-2A>T;ENST00000590986:exon8:c.1466-2A>T;ENST00000440549:exon7:c.641-2A>T;ENST00000586829:exon4:c.167-2A>T)	.	.	0.999988247793601	0.948
18	33694439	T	C	18	36114476	y	y	splicing	SLC39A6(NM_012319:exon8:c.1466-2A>G;NM_001099406:exon7:c.641-2A>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1466-2A>G;ENST00000590986:exon8:c.1466-2A>G;ENST00000440549:exon7:c.641-2A>G;ENST00000586829:exon4:c.167-2A>G)	.	.	0.999988247793601	0.948
18	33694439	T	G	18	36114476	y	y	splicing	SLC39A6(NM_012319:exon8:c.1466-2A>C;NM_001099406:exon7:c.641-2A>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon8:c.1466-2A>C;ENST00000590986:exon8:c.1466-2A>C;ENST00000440549:exon7:c.641-2A>C;ENST00000586829:exon4:c.167-2A>C)	.	.	0.999988247793601	0.948
18	33694440	A	C	18	36114477	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.977841544199556	0.702
18	33694440	A	G	18	36114477	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.65992196809764E-4	0.164
18	33694440	A	T	18	36114477	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0441002744861219	0.274
18	33694441	G	A	18	36114478	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00106200929523615	0.044
18	33694441	G	C	18	36114478	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00117228118653186	0.034
18	33694441	G	T	18	36114478	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00106200929523615	0.04
18	33694442	G	A	18	36114479	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.63344705150082E-4	0.006
18	33694442	G	C	18	36114479	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00260848740576944	0.104
18	33694442	G	T	18	36114479	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.011506258670718	0.096
18	33694443	A	C	18	36114480	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00362394636719675	0.146
18	33694443	A	G	18	36114480	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.76736188379814E-6	0.012
18	33694443	A	T	18	36114480	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0032469272689727	0.136
18	33694444	A	C	18	36114481	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999899633461971	0.99
18	33694444	A	G	18	36114481	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.61858435219881E-4	0.058
18	33694444	A	T	18	36114481	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00624848422210132	0.13
18	33694445	T	A	18	36114482	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.02503677709659E-4	0.016
18	33694445	T	C	18	36114482	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00222840071145516	0.03
18	33694445	T	G	18	36114482	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.40300506111146E-4	0.016
18	33694446	A	C	18	36114483	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.620856360044038	0.598
18	33694446	A	G	18	36114483	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.42704244572467E-4	0.058
18	33694446	A	T	18	36114483	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.607830865102347	0.582
18	33694447	A	C	18	36114484	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.995561139163589	0.756
18	33694447	A	G	18	36114484	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.18965891968694	0.338
18	33694447	A	T	18	36114484	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.997893712089696	0.878
18	33694448	A	C	18	36114485	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.997630034957591	0.918
18	33694448	A	G	18	36114485	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.929181805283905	0.7
18	33694448	A	T	18	36114485	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998962291210139	0.964
18	33694449	C	A	18	36114486	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.56566215634748E-5	0.028
18	33694449	C	G	18	36114486	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.65804559603222E-4	0.002
18	33694449	C	T	18	36114486	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00100047849667427	0.088
18	33696629	G	A	18	36116666	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.51940182702631E-4	0.016
18	33696629	G	C	18	36116666	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.50374092361667E-4	0.012
18	33696629	G	T	18	36116666	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.13992857284533E-4	0.016
18	33696630	A	C	18	36116667	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.19845069813638E-5	0.0
18	33696630	A	G	18	36116667	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.19845069813638E-5	0.0
18	33696630	A	T	18	36116667	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.44720347083094E-5	0.002
18	33696631	A	C	18	36116668	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.996807459577538	0.956
18	33696631	A	G	18	36116668	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.993403038786337	0.888
18	33696631	A	T	18	36116668	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.996959387252213	0.778
18	33696632	C	A	18	36116669	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999977984120426	0.992
18	33696632	C	G	18	36116669	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999989400587572	0.976
18	33696632	C	T	18	36116669	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999964189643015	1.0
18	33696633	T	A	18	36116670	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998360797093482	0.964
18	33696633	T	C	18	36116670	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998764629314436	0.964
18	33696633	T	G	18	36116670	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.99556190062455	0.798
18	33696634	T	A	18	36116671	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999918126707469	0.942
18	33696634	T	C	18	36116671	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.212892512549422	0.38
18	33696634	T	G	18	36116671	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.99933707419211	0.89
18	33696635	A	C	18	36116672	y	y	splicing	SLC39A6(NM_012319:exon7:c.1465+2T>G;NM_001099406:exon6:c.640+2T>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1465+2T>G;ENST00000590986:exon7:c.1465+2T>G;ENST00000440549:exon6:c.640+2T>G;ENST00000586829:exon3:c.166+2T>G)	.	.	0.999988247793601	0.928
18	33696635	A	G	18	36116672	y	y	splicing	SLC39A6(NM_012319:exon7:c.1465+2T>C;NM_001099406:exon6:c.640+2T>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1465+2T>C;ENST00000590986:exon7:c.1465+2T>C;ENST00000440549:exon6:c.640+2T>C;ENST00000586829:exon3:c.166+2T>C)	.	.	0.99340600729494	0.64
18	33696635	A	T	18	36116672	y	y	splicing	SLC39A6(NM_012319:exon7:c.1465+2T>A;NM_001099406:exon6:c.640+2T>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1465+2T>A;ENST00000590986:exon7:c.1465+2T>A;ENST00000440549:exon6:c.640+2T>A;ENST00000586829:exon3:c.166+2T>A)	.	.	0.999988247793601	0.928
18	33696636	C	A	18	36116673	y	y	splicing	SLC39A6(NM_012319:exon7:c.1465+1G>T;NM_001099406:exon6:c.640+1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1465+1G>T;ENST00000590986:exon7:c.1465+1G>T;ENST00000440549:exon6:c.640+1G>T;ENST00000586829:exon3:c.166+1G>T)	.	.	0.999985532734767	0.936
18	33696636	C	G	18	36116673	y	y	splicing	SLC39A6(NM_012319:exon7:c.1465+1G>C;NM_001099406:exon6:c.640+1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1465+1G>C;ENST00000590986:exon7:c.1465+1G>C;ENST00000440549:exon6:c.640+1G>C;ENST00000586829:exon3:c.166+1G>C)	.	.	0.999985532734767	0.936
18	33696636	C	T	18	36116673	y	y	splicing	SLC39A6(NM_012319:exon7:c.1465+1G>A;NM_001099406:exon6:c.640+1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1465+1G>A;ENST00000590986:exon7:c.1465+1G>A;ENST00000440549:exon6:c.640+1G>A;ENST00000586829:exon3:c.166+1G>A)	.	.	0.999985532734767	0.936
18	33696637	G	A	18	36116674	y	y	exonic	SLC39A6	stopgain SNV	SLC39A6:NM_012319:exon6:c.C1465T:p.R489X;SLC39A6:NM_001099406:exon5:c.C640T:p.R214X;	exonic	ENSG00000141424	stopgain SNV	ENSG00000141424:ENST00000440549:exon5:c.C640T:p.R214X;ENSG00000141424:ENST00000586829:exon2:c.C166T:p.R56X;ENSG00000141424:ENST00000590986:exon6:c.C1465T:p.R489X;ENSG00000141424:ENST00000269187:exon6:c.C1465T:p.R489X;	0.988363220245636	0.824
18	33696637	G	C	18	36116674	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.C1465G:p.R489G;SLC39A6:NM_001099406:exon5:c.C640G:p.R214G;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.C640G:p.R214G;ENSG00000141424:ENST00000586829:exon2:c.C166G:p.R56G;ENSG00000141424:ENST00000590986:exon6:c.C1465G:p.R489G;ENSG00000141424:ENST00000269187:exon6:c.C1465G:p.R489G;	0.784378513002717	0.48
18	33696637	G	T	18	36116674	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon6:c.C1465A:p.R489R;SLC39A6:NM_001099406:exon5:c.C640A:p.R214R;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.C640A:p.R214R;ENSG00000141424:ENST00000586829:exon2:c.C166A:p.R56R;ENSG00000141424:ENST00000590986:exon6:c.C1465A:p.R489R;ENSG00000141424:ENST00000269187:exon6:c.C1465A:p.R489R;	0.0249854735542737	0.252
18	33696638	A	C	18	36116675	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.T1464G:p.D488E;SLC39A6:NM_001099406:exon5:c.T639G:p.D213E;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.T639G:p.D213E;ENSG00000141424:ENST00000586829:exon2:c.T165G:p.D55E;ENSG00000141424:ENST00000590986:exon6:c.T1464G:p.D488E;ENSG00000141424:ENST00000269187:exon6:c.T1464G:p.D488E;	0.00224896678710764	0.04
18	33696638	A	G	18	36116675	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon6:c.T1464C:p.D488D;SLC39A6:NM_001099406:exon5:c.T639C:p.D213D;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.T639C:p.D213D;ENSG00000141424:ENST00000586829:exon2:c.T165C:p.D55D;ENSG00000141424:ENST00000590986:exon6:c.T1464C:p.D488D;ENSG00000141424:ENST00000269187:exon6:c.T1464C:p.D488D;	4.97331280415926E-4	0.01
18	33696638	A	T	18	36116675	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.T1464A:p.D488E;SLC39A6:NM_001099406:exon5:c.T639A:p.D213E;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.T639A:p.D213E;ENSG00000141424:ENST00000586829:exon2:c.T165A:p.D55E;ENSG00000141424:ENST00000590986:exon6:c.T1464A:p.D488E;ENSG00000141424:ENST00000269187:exon6:c.T1464A:p.D488E;	1.72254334289963E-4	0.16
18	33696639	T	A	18	36116676	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1463T:p.D488V;SLC39A6:NM_001099406:exon5:c.A638T:p.D213V;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A638T:p.D213V;ENSG00000141424:ENST00000586829:exon2:c.A164T:p.D55V;ENSG00000141424:ENST00000590986:exon6:c.A1463T:p.D488V;ENSG00000141424:ENST00000269187:exon6:c.A1463T:p.D488V;	0.895890900602547	0.466
18	33696639	T	C	18	36116676	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1463G:p.D488G;SLC39A6:NM_001099406:exon5:c.A638G:p.D213G;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A638G:p.D213G;ENSG00000141424:ENST00000586829:exon2:c.A164G:p.D55G;ENSG00000141424:ENST00000590986:exon6:c.A1463G:p.D488G;ENSG00000141424:ENST00000269187:exon6:c.A1463G:p.D488G;	0.123168430396254	0.372
18	33696639	T	G	18	36116676	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1463C:p.D488A;SLC39A6:NM_001099406:exon5:c.A638C:p.D213A;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A638C:p.D213A;ENSG00000141424:ENST00000586829:exon2:c.A164C:p.D55A;ENSG00000141424:ENST00000590986:exon6:c.A1463C:p.D488A;ENSG00000141424:ENST00000269187:exon6:c.A1463C:p.D488A;	0.298657973552179	0.484
18	33696741	T	A	18	36116778	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1361T:p.N454I;SLC39A6:NM_001099406:exon5:c.A536T:p.N179I;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A536T:p.N179I;ENSG00000141424:ENST00000586829:exon2:c.A62T:p.N21I;ENSG00000141424:ENST00000590986:exon6:c.A1361T:p.N454I;ENSG00000141424:ENST00000269187:exon6:c.A1361T:p.N454I;	0.00211019006306834	0.016
18	33696741	T	C	18	36116778	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1361G:p.N454S;SLC39A6:NM_001099406:exon5:c.A536G:p.N179S;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A536G:p.N179S;ENSG00000141424:ENST00000586829:exon2:c.A62G:p.N21S;ENSG00000141424:ENST00000590986:exon6:c.A1361G:p.N454S;ENSG00000141424:ENST00000269187:exon6:c.A1361G:p.N454S;	6.15499896757752E-4	0.028
18	33696741	T	G	18	36116778	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1361C:p.N454T;SLC39A6:NM_001099406:exon5:c.A536C:p.N179T;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A536C:p.N179T;ENSG00000141424:ENST00000586829:exon2:c.A62C:p.N21T;ENSG00000141424:ENST00000590986:exon6:c.A1361C:p.N454T;ENSG00000141424:ENST00000269187:exon6:c.A1361C:p.N454T;	2.3029223462732E-4	0.066
18	33696742	T	A	18	36116779	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1360T:p.N454Y;SLC39A6:NM_001099406:exon5:c.A535T:p.N179Y;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A535T:p.N179Y;ENSG00000141424:ENST00000586829:exon2:c.A61T:p.N21Y;ENSG00000141424:ENST00000590986:exon6:c.A1360T:p.N454Y;ENSG00000141424:ENST00000269187:exon6:c.A1360T:p.N454Y;	0.202339161292945	0.348
18	33696742	T	C	18	36116779	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1360G:p.N454D;SLC39A6:NM_001099406:exon5:c.A535G:p.N179D;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A535G:p.N179D;ENSG00000141424:ENST00000586829:exon2:c.A61G:p.N21D;ENSG00000141424:ENST00000590986:exon6:c.A1360G:p.N454D;ENSG00000141424:ENST00000269187:exon6:c.A1360G:p.N454D;	0.00244256132478693	0.012
18	33696742	T	G	18	36116779	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon6:c.A1360C:p.N454H;SLC39A6:NM_001099406:exon5:c.A535C:p.N179H;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon5:c.A535C:p.N179H;ENSG00000141424:ENST00000586829:exon2:c.A61C:p.N21H;ENSG00000141424:ENST00000590986:exon6:c.A1360C:p.N454H;ENSG00000141424:ENST00000269187:exon6:c.A1360C:p.N454H;	0.586376750317489	0.53
18	33696743	C	A	18	36116780	y	y	splicing	SLC39A6(NM_012319:exon7:c.1360-1G>T;NM_001099406:exon6:c.535-1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1360-1G>T;ENST00000590986:exon7:c.1360-1G>T;ENST00000440549:exon6:c.535-1G>T;ENST00000586829:exon3:c.61-1G>T)	.	.	0.999985532734767	0.946
18	33696743	C	G	18	36116780	y	y	splicing	SLC39A6(NM_012319:exon7:c.1360-1G>C;NM_001099406:exon6:c.535-1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1360-1G>C;ENST00000590986:exon7:c.1360-1G>C;ENST00000440549:exon6:c.535-1G>C;ENST00000586829:exon3:c.61-1G>C)	.	.	0.999985532734767	0.946
18	33696743	C	T	18	36116780	y	y	splicing	SLC39A6(NM_012319:exon7:c.1360-1G>A;NM_001099406:exon6:c.535-1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1360-1G>A;ENST00000590986:exon7:c.1360-1G>A;ENST00000440549:exon6:c.535-1G>A;ENST00000586829:exon3:c.61-1G>A)	.	.	0.999985532734767	0.946
18	33696744	T	A	18	36116781	y	y	splicing	SLC39A6(NM_012319:exon7:c.1360-2A>T;NM_001099406:exon6:c.535-2A>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1360-2A>T;ENST00000590986:exon7:c.1360-2A>T;ENST00000440549:exon6:c.535-2A>T;ENST00000586829:exon3:c.61-2A>T)	.	.	0.999978952611685	0.942
18	33696744	T	C	18	36116781	y	y	splicing	SLC39A6(NM_012319:exon7:c.1360-2A>G;NM_001099406:exon6:c.535-2A>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1360-2A>G;ENST00000590986:exon7:c.1360-2A>G;ENST00000440549:exon6:c.535-2A>G;ENST00000586829:exon3:c.61-2A>G)	.	.	0.999978952611685	0.944
18	33696744	T	G	18	36116781	y	y	splicing	SLC39A6(NM_012319:exon7:c.1360-2A>C;NM_001099406:exon6:c.535-2A>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon7:c.1360-2A>C;ENST00000590986:exon7:c.1360-2A>C;ENST00000440549:exon6:c.535-2A>C;ENST00000586829:exon3:c.61-2A>C)	.	.	0.999978952611685	0.944
18	33696745	A	C	18	36116782	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.958739786688356	0.634
18	33696745	A	G	18	36116782	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.5376796514447E-4	0.054
18	33696745	A	T	18	36116782	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0942820329706037	0.398
18	33696746	A	C	18	36116783	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.77026406887313E-4	0.014
18	33696746	A	G	18	36116783	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.79105764589722E-5	0.006
18	33696746	A	T	18	36116783	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.310310695622E-4	0.042
18	33696747	A	C	18	36116784	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.988793098338233	0.62
18	33696747	A	G	18	36116784	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0559874540540042	0.282
18	33696747	A	T	18	36116784	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.962161836913725	0.59
18	33696748	A	C	18	36116785	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.995799596472868	0.936
18	33696748	A	G	18	36116785	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.42880290043007E-4	0.058
18	33696748	A	T	18	36116785	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0783204458313635	0.314
18	33696749	T	A	18	36116786	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.42954537825878E-5	0.0
18	33696749	T	C	18	36116786	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.658318015934E-5	0.0
18	33696749	T	G	18	36116786	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.28970967593291E-5	0.0
18	33696750	A	C	18	36116787	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00106091988311445	0.198
18	33696750	A	G	18	36116787	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.80349003269487E-5	0.0
18	33696750	A	T	18	36116787	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0108954981160593	0.22
18	33696751	G	A	18	36116788	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.15626850174336E-4	0.004
18	33696751	G	C	18	36116788	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.99969624093378	0.98
18	33696751	G	T	18	36116788	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.33405809881781E-4	0.07
18	33696752	T	A	18	36116789	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.03488284773683E-5	0.0
18	33696752	T	C	18	36116789	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.99039103434372E-5	0.004
18	33696752	T	G	18	36116789	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.48141076548495E-5	0.006
18	33696753	G	A	18	36116790	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.95048459408849E-5	0.0
18	33696753	G	C	18	36116790	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.35569448389485E-4	0.042
18	33696753	G	T	18	36116790	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.6508173997888E-4	0.014
18	33696754	A	C	18	36116791	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.313549136699465	0.58
18	33696754	A	G	18	36116791	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0274191684788372	0.174
18	33696754	A	T	18	36116791	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.242536387448949	0.584
18	33702007	T	A	18	36122044	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.49266100236065E-5	0.0
18	33702007	T	C	18	36122044	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.31943206015039E-5	0.004
18	33702007	T	G	18	36122044	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.49266100236065E-5	0.0
18	33702008	T	A	18	36122045	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.49302493830456E-5	0.0
18	33702008	T	C	18	36122045	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.45039730331126E-5	0.0
18	33702008	T	G	18	36122045	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.04096031973704E-5	0.0
18	33702009	T	A	18	36122046	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.59076740349542E-5	0.016
18	33702009	T	C	18	36122046	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.78511989114878E-5	0.0
18	33702009	T	G	18	36122046	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.49897512838697E-4	0.004
18	33702010	C	A	18	36122047	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.622532962383592	0.52
18	33702010	C	G	18	36122047	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.564055968000036	0.542
18	33702010	C	T	18	36122047	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.577440313848234	0.572
18	33702011	T	A	18	36122048	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.643523782819073	0.55
18	33702011	T	C	18	36122048	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.797528056477812	0.502
18	33702011	T	G	18	36122048	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.552316534662381	0.626
18	33702012	T	A	18	36122049	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.960913417574436	0.666
18	33702012	T	C	18	36122049	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.247739941507712	0.286
18	33702012	T	G	18	36122049	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.987784561651972	0.752
18	33702013	A	C	18	36122050	y	y	splicing	SLC39A6(NM_012319:exon6:c.1359+2T>G;NM_001099406:exon5:c.534+2T>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1359+2T>G;ENST00000590986:exon6:c.1359+2T>G;ENST00000440549:exon5:c.534+2T>G;ENST00000586829:exon2:c.60+2T>G)	.	.	0.999988247793601	0.926
18	33702013	A	G	18	36122050	y	y	splicing	SLC39A6(NM_012319:exon6:c.1359+2T>C;NM_001099406:exon5:c.534+2T>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1359+2T>C;ENST00000590986:exon6:c.1359+2T>C;ENST00000440549:exon5:c.534+2T>C;ENST00000586829:exon2:c.60+2T>C)	.	.	0.98918007292081	0.622
18	33702013	A	T	18	36122050	y	y	splicing	SLC39A6(NM_012319:exon6:c.1359+2T>A;NM_001099406:exon5:c.534+2T>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1359+2T>A;ENST00000590986:exon6:c.1359+2T>A;ENST00000440549:exon5:c.534+2T>A;ENST00000586829:exon2:c.60+2T>A)	.	.	0.999988247793601	0.926
18	33702014	C	A	18	36122051	y	y	splicing	SLC39A6(NM_012319:exon6:c.1359+1G>T;NM_001099406:exon5:c.534+1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1359+1G>T;ENST00000590986:exon6:c.1359+1G>T;ENST00000440549:exon5:c.534+1G>T;ENST00000586829:exon2:c.60+1G>T)	.	.	0.999981760802075	0.936
18	33702014	C	G	18	36122051	y	y	splicing	SLC39A6(NM_012319:exon6:c.1359+1G>C;NM_001099406:exon5:c.534+1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1359+1G>C;ENST00000590986:exon6:c.1359+1G>C;ENST00000440549:exon5:c.534+1G>C;ENST00000586829:exon2:c.60+1G>C)	.	.	0.999981760802075	0.936
18	33702014	C	T	18	36122051	y	y	splicing	SLC39A6(NM_012319:exon6:c.1359+1G>A;NM_001099406:exon5:c.534+1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1359+1G>A;ENST00000590986:exon6:c.1359+1G>A;ENST00000440549:exon5:c.534+1G>A;ENST00000586829:exon2:c.60+1G>A)	.	.	0.999981760802075	0.936
18	33702015	C	A	18	36122052	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.G1359T:p.K453N;SLC39A6:NM_001099406:exon4:c.G534T:p.K178N;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.G534T:p.K178N;ENSG00000141424:ENST00000586829:exon1:c.G60T:p.K20N;ENSG00000141424:ENST00000590986:exon5:c.G1359T:p.K453N;ENSG00000141424:ENST00000269187:exon5:c.G1359T:p.K453N;	0.999741079542746	0.99
18	33702015	C	G	18	36122052	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.G1359C:p.K453N;SLC39A6:NM_001099406:exon4:c.G534C:p.K178N;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.G534C:p.K178N;ENSG00000141424:ENST00000586829:exon1:c.G60C:p.K20N;ENSG00000141424:ENST00000590986:exon5:c.G1359C:p.K453N;ENSG00000141424:ENST00000269187:exon5:c.G1359C:p.K453N;	0.999938659561281	0.982
18	33702015	C	T	18	36122052	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon5:c.G1359A:p.K453K;SLC39A6:NM_001099406:exon4:c.G534A:p.K178K;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.G534A:p.K178K;ENSG00000141424:ENST00000586829:exon1:c.G60A:p.K20K;ENSG00000141424:ENST00000590986:exon5:c.G1359A:p.K453K;ENSG00000141424:ENST00000269187:exon5:c.G1359A:p.K453K;	0.99642522462896	0.95
18	33702016	T	A	18	36122053	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.A1358T:p.K453M;SLC39A6:NM_001099406:exon4:c.A533T:p.K178M;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.A533T:p.K178M;ENSG00000141424:ENST00000586829:exon1:c.A59T:p.K20M;ENSG00000141424:ENST00000590986:exon5:c.A1358T:p.K453M;ENSG00000141424:ENST00000269187:exon5:c.A1358T:p.K453M;	0.994799550112165	0.724
18	33702016	T	C	18	36122053	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.A1358G:p.K453R;SLC39A6:NM_001099406:exon4:c.A533G:p.K178R;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.A533G:p.K178R;ENSG00000141424:ENST00000586829:exon1:c.A59G:p.K20R;ENSG00000141424:ENST00000590986:exon5:c.A1358G:p.K453R;ENSG00000141424:ENST00000269187:exon5:c.A1358G:p.K453R;	0.996447206576452	0.948
18	33702016	T	G	18	36122053	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.A1358C:p.K453T;SLC39A6:NM_001099406:exon4:c.A533C:p.K178T;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.A533C:p.K178T;ENSG00000141424:ENST00000586829:exon1:c.A59C:p.K20T;ENSG00000141424:ENST00000590986:exon5:c.A1358C:p.K453T;ENSG00000141424:ENST00000269187:exon5:c.A1358C:p.K453T;	0.990949290733609	0.936
18	33702017	T	A	18	36122054	y	y	exonic	SLC39A6	stopgain SNV	SLC39A6:NM_012319:exon5:c.A1357T:p.K453X;SLC39A6:NM_001099406:exon4:c.A532T:p.K178X;	exonic	ENSG00000141424	stopgain SNV	ENSG00000141424:ENST00000440549:exon4:c.A532T:p.K178X;ENSG00000141424:ENST00000586829:exon1:c.A58T:p.K20X;ENSG00000141424:ENST00000590986:exon5:c.A1357T:p.K453X;ENSG00000141424:ENST00000269187:exon5:c.A1357T:p.K453X;	0.963030505266301	0.616
18	33702017	T	C	18	36122054	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.A1357G:p.K453E;SLC39A6:NM_001099406:exon4:c.A532G:p.K178E;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.A532G:p.K178E;ENSG00000141424:ENST00000586829:exon1:c.A58G:p.K20E;ENSG00000141424:ENST00000590986:exon5:c.A1357G:p.K453E;ENSG00000141424:ENST00000269187:exon5:c.A1357G:p.K453E;	0.257420703659978	0.388
18	33702017	T	G	18	36122054	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.A1357C:p.K453Q;SLC39A6:NM_001099406:exon4:c.A532C:p.K178Q;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.A532C:p.K178Q;ENSG00000141424:ENST00000586829:exon1:c.A58C:p.K20Q;ENSG00000141424:ENST00000590986:exon5:c.A1357C:p.K453Q;ENSG00000141424:ENST00000269187:exon5:c.A1357C:p.K453Q;	0.697016524828505	0.584
18	33702232	G	A	18	36122269	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.C1142T:p.S381F;SLC39A6:NM_001099406:exon4:c.C317T:p.S106F;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.C317T:p.S106F;ENSG00000141424:ENST00000590986:exon5:c.C1142T:p.S381F;ENSG00000141424:ENST00000269187:exon5:c.C1142T:p.S381F;	0.971500200628247	0.808
18	33702232	G	C	18	36122269	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.C1142G:p.S381C;SLC39A6:NM_001099406:exon4:c.C317G:p.S106C;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.C317G:p.S106C;ENSG00000141424:ENST00000590986:exon5:c.C1142G:p.S381C;ENSG00000141424:ENST00000269187:exon5:c.C1142G:p.S381C;	0.973402596200286	0.832
18	33702232	G	T	18	36122269	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.C1142A:p.S381Y;SLC39A6:NM_001099406:exon4:c.C317A:p.S106Y;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.C317A:p.S106Y;ENSG00000141424:ENST00000590986:exon5:c.C1142A:p.S381Y;ENSG00000141424:ENST00000269187:exon5:c.C1142A:p.S381Y;	0.987684263259024	0.872
18	33702233	A	C	18	36122270	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.T1141G:p.S381A;SLC39A6:NM_001099406:exon4:c.T316G:p.S106A;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.T316G:p.S106A;ENSG00000141424:ENST00000590986:exon5:c.T1141G:p.S381A;ENSG00000141424:ENST00000269187:exon5:c.T1141G:p.S381A;	0.701946894878545	0.614
18	33702233	A	G	18	36122270	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.T1141C:p.S381P;SLC39A6:NM_001099406:exon4:c.T316C:p.S106P;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.T316C:p.S106P;ENSG00000141424:ENST00000590986:exon5:c.T1141C:p.S381P;ENSG00000141424:ENST00000269187:exon5:c.T1141C:p.S381P;	0.785735089039362	0.742
18	33702233	A	T	18	36122270	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon5:c.T1141A:p.S381T;SLC39A6:NM_001099406:exon4:c.T316A:p.S106T;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon4:c.T316A:p.S106T;ENSG00000141424:ENST00000590986:exon5:c.T1141A:p.S381T;ENSG00000141424:ENST00000269187:exon5:c.T1141A:p.S381T;	0.598549128180165	0.696
18	33702234	C	A	18	36122271	y	y	splicing	SLC39A6(NM_012319:exon6:c.1141-1G>T;NM_001099406:exon5:c.316-1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1141-1G>T;ENST00000590986:exon6:c.1141-1G>T;ENST00000440549:exon5:c.316-1G>T)	.	.	0.999985666489905	0.944
18	33702234	C	G	18	36122271	y	y	splicing	SLC39A6(NM_012319:exon6:c.1141-1G>C;NM_001099406:exon5:c.316-1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1141-1G>C;ENST00000590986:exon6:c.1141-1G>C;ENST00000440549:exon5:c.316-1G>C)	.	.	0.999985666489905	0.944
18	33702234	C	T	18	36122271	y	y	splicing	SLC39A6(NM_012319:exon6:c.1141-1G>A;NM_001099406:exon5:c.316-1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1141-1G>A;ENST00000590986:exon6:c.1141-1G>A;ENST00000440549:exon5:c.316-1G>A)	.	.	0.999985666489905	0.944
18	33702235	T	A	18	36122272	y	y	splicing	SLC39A6(NM_012319:exon6:c.1141-2A>T;NM_001099406:exon5:c.316-2A>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1141-2A>T;ENST00000590986:exon6:c.1141-2A>T;ENST00000440549:exon5:c.316-2A>T)	.	.	0.999990764389106	0.944
18	33702235	T	C	18	36122272	y	y	splicing	SLC39A6(NM_012319:exon6:c.1141-2A>G;NM_001099406:exon5:c.316-2A>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1141-2A>G;ENST00000590986:exon6:c.1141-2A>G;ENST00000440549:exon5:c.316-2A>G)	.	.	0.999990764389106	0.944
18	33702235	T	G	18	36122272	y	y	splicing	SLC39A6(NM_012319:exon6:c.1141-2A>C;NM_001099406:exon5:c.316-2A>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon6:c.1141-2A>C;ENST00000590986:exon6:c.1141-2A>C;ENST00000440549:exon5:c.316-2A>C)	.	.	0.999990764389106	0.944
18	33702236	G	A	18	36122273	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.45352198719475E-4	0.056
18	33702236	G	C	18	36122273	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.997620472719863	0.722
18	33702236	G	T	18	36122273	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.931211943797788	0.534
18	33702237	A	C	18	36122274	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.64889663805018E-4	0.002
18	33702237	A	G	18	36122274	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.8704921529329E-4	0.044
18	33702237	A	T	18	36122274	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00237464384199458	0.016
18	33702238	A	C	18	36122275	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.973915262648531	0.626
18	33702238	A	G	18	36122275	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0108444396015032	0.208
18	33702238	A	T	18	36122275	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.907329783004318	0.62
18	33702239	G	A	18	36122276	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.54366473135079E-5	0.014
18	33702239	G	C	18	36122276	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00285597002771145	0.29
18	33702239	G	T	18	36122276	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00274228633563852	0.27
18	33702240	G	A	18	36122277	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.81190113208125E-5	0.0
18	33702240	G	C	18	36122277	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00215670604458709	0.05
18	33702240	G	T	18	36122277	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00519497170618939	0.122
18	33702241	C	A	18	36122278	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.67851292118974E-5	0.008
18	33702241	C	G	18	36122278	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.67947119575295E-5	0.008
18	33702241	C	T	18	36122278	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.13701901775825E-4	0.07
18	33702242	A	C	18	36122279	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.6248735672636	0.698
18	33702242	A	G	18	36122279	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0225240542708226	0.12
18	33702242	A	T	18	36122279	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999971014749146	0.972
18	33702243	A	C	18	36122280	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998491640730357	0.878
18	33702243	A	G	18	36122280	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.439911629114549	0.358
18	33702243	A	T	18	36122280	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999678757150638	0.896
18	33702244	A	C	18	36122281	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999466377777854	0.874
18	33702244	A	G	18	36122281	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.961476275265531	0.57
18	33702244	A	T	18	36122281	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999578537033293	0.952
18	33702245	A	C	18	36122282	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999974558764692	0.968
18	33702245	A	G	18	36122282	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.304398220244103	0.394
18	33702245	A	T	18	36122282	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.997483665517334	0.868
18	33703450	A	C	18	36123487	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.08454055578116E-4	0.0
18	33703450	A	G	18	36123487	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.08454055578116E-4	0.0
18	33703450	A	T	18	36123487	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.52204790408492E-5	0.0
18	33703451	T	A	18	36123488	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.42095014750824E-5	0.0
18	33703451	T	C	18	36123488	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.89598363400388E-5	0.0
18	33703451	T	G	18	36123488	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.89598363400388E-5	0.0
18	33703452	A	C	18	36123489	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.392088673870113	0.516
18	33703452	A	G	18	36123489	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.897524680943601	0.664
18	33703452	A	T	18	36123489	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.923295966899389	0.604
18	33703453	C	A	18	36123490	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999899928748931	0.904
18	33703453	C	G	18	36123490	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999375223435971	0.856
18	33703453	C	T	18	36123490	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999828628988454	0.968
18	33703454	T	A	18	36123491	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.967474670759541	0.774
18	33703454	T	C	18	36123491	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.992852919051708	0.708
18	33703454	T	G	18	36123491	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.943294790255151	0.662
18	33703455	T	A	18	36123492	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998584838487499	0.742
18	33703455	T	C	18	36123492	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.18162283976522E-4	0.044
18	33703455	T	G	18	36123492	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.992255649490887	0.778
18	33703456	A	C	18	36123493	y	y	splicing	SLC39A6(NM_012319:exon5:c.1140+2T>G;NM_001099406:exon4:c.315+2T>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.1140+2T>G;ENST00000590986:exon5:c.1140+2T>G;ENST00000440549:exon4:c.315+2T>G)	.	.	0.999988247793601	0.928
18	33703456	A	G	18	36123493	y	y	splicing	SLC39A6(NM_012319:exon5:c.1140+2T>C;NM_001099406:exon4:c.315+2T>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.1140+2T>C;ENST00000590986:exon5:c.1140+2T>C;ENST00000440549:exon4:c.315+2T>C)	.	.	0.99231226973403	0.69
18	33703456	A	T	18	36123493	y	y	splicing	SLC39A6(NM_012319:exon5:c.1140+2T>A;NM_001099406:exon4:c.315+2T>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.1140+2T>A;ENST00000590986:exon5:c.1140+2T>A;ENST00000440549:exon4:c.315+2T>A)	.	.	0.999988247793601	0.928
18	33703457	C	A	18	36123494	y	y	splicing	SLC39A6(NM_012319:exon5:c.1140+1G>T;NM_001099406:exon4:c.315+1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.1140+1G>T;ENST00000590986:exon5:c.1140+1G>T;ENST00000440549:exon4:c.315+1G>T)	.	.	0.999990361384395	0.938
18	33703457	C	G	18	36123494	y	y	splicing	SLC39A6(NM_012319:exon5:c.1140+1G>C;NM_001099406:exon4:c.315+1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.1140+1G>C;ENST00000590986:exon5:c.1140+1G>C;ENST00000440549:exon4:c.315+1G>C)	.	.	0.999990361384395	0.938
18	33703457	C	T	18	36123494	y	y	splicing	SLC39A6(NM_012319:exon5:c.1140+1G>A;NM_001099406:exon4:c.315+1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.1140+1G>A;ENST00000590986:exon5:c.1140+1G>A;ENST00000440549:exon4:c.315+1G>A)	.	.	0.999990361384395	0.938
18	33703458	A	C	18	36123495	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.T1140G:p.H380Q;SLC39A6:NM_001099406:exon3:c.T315G:p.H105Q;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.T315G:p.H105Q;ENSG00000141424:ENST00000590986:exon4:c.T1140G:p.H380Q;ENSG00000141424:ENST00000269187:exon4:c.T1140G:p.H380Q;	5.10904545158469E-5	0.252
18	33703458	A	G	18	36123495	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon4:c.T1140C:p.H380H;SLC39A6:NM_001099406:exon3:c.T315C:p.H105H;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.T315C:p.H105H;ENSG00000141424:ENST00000590986:exon4:c.T1140C:p.H380H;ENSG00000141424:ENST00000269187:exon4:c.T1140C:p.H380H;	1.07792581692811E-4	0.06
18	33703458	A	T	18	36123495	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.T1140A:p.H380Q;SLC39A6:NM_001099406:exon3:c.T315A:p.H105Q;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.T315A:p.H105Q;ENSG00000141424:ENST00000590986:exon4:c.T1140A:p.H380Q;ENSG00000141424:ENST00000269187:exon4:c.T1140A:p.H380Q;	4.37075201549152E-5	0.16
18	33703459	T	A	18	36123496	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.A1139T:p.H380L;SLC39A6:NM_001099406:exon3:c.A314T:p.H105L;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.A314T:p.H105L;ENSG00000141424:ENST00000590986:exon4:c.A1139T:p.H380L;ENSG00000141424:ENST00000269187:exon4:c.A1139T:p.H380L;	0.993469341988317	0.88
18	33703459	T	C	18	36123496	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.A1139G:p.H380R;SLC39A6:NM_001099406:exon3:c.A314G:p.H105R;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.A314G:p.H105R;ENSG00000141424:ENST00000590986:exon4:c.A1139G:p.H380R;ENSG00000141424:ENST00000269187:exon4:c.A1139G:p.H380R;	0.989319568727073	0.888
18	33703459	T	G	18	36123496	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.A1139C:p.H380P;SLC39A6:NM_001099406:exon3:c.A314C:p.H105P;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.A314C:p.H105P;ENSG00000141424:ENST00000590986:exon4:c.A1139C:p.H380P;ENSG00000141424:ENST00000269187:exon4:c.A1139C:p.H380P;	0.992446123003402	0.948
18	33703460	G	A	18	36123497	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.C1138T:p.H380Y;SLC39A6:NM_001099406:exon3:c.C313T:p.H105Y;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C313T:p.H105Y;ENSG00000141424:ENST00000590986:exon4:c.C1138T:p.H380Y;ENSG00000141424:ENST00000269187:exon4:c.C1138T:p.H380Y;	0.997549069453957	0.928
18	33703460	G	C	18	36123497	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.C1138G:p.H380D;SLC39A6:NM_001099406:exon3:c.C313G:p.H105D;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C313G:p.H105D;ENSG00000141424:ENST00000590986:exon4:c.C1138G:p.H380D;ENSG00000141424:ENST00000269187:exon4:c.C1138G:p.H380D;	0.926539208504767	0.634
18	33703460	G	T	18	36123497	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.C1138A:p.H380N;SLC39A6:NM_001099406:exon3:c.C313A:p.H105N;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C313A:p.H105N;ENSG00000141424:ENST00000590986:exon4:c.C1138A:p.H380N;ENSG00000141424:ENST00000269187:exon4:c.C1138A:p.H380N;	0.956260194549831	0.766
18	33703626	G	A	18	36123663	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon4:c.C972T:p.A324A;SLC39A6:NM_001099406:exon3:c.C147T:p.A49A;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C147T:p.A49A;ENSG00000141424:ENST00000590986:exon4:c.C972T:p.A324A;ENSG00000141424:ENST00000269187:exon4:c.C972T:p.A324A;	1.55842014993077E-4	0.004
18	33703626	G	C	18	36123663	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon4:c.C972G:p.A324A;SLC39A6:NM_001099406:exon3:c.C147G:p.A49A;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C147G:p.A49A;ENSG00000141424:ENST00000590986:exon4:c.C972G:p.A324A;ENSG00000141424:ENST00000269187:exon4:c.C972G:p.A324A;	9.25458969885781E-5	0.084
18	33703626	G	T	18	36123663	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon4:c.C972A:p.A324A;SLC39A6:NM_001099406:exon3:c.C147A:p.A49A;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C147A:p.A49A;ENSG00000141424:ENST00000590986:exon4:c.C972A:p.A324A;ENSG00000141424:ENST00000269187:exon4:c.C972A:p.A324A;	0.00122938414690714	0.134
18	33703627	G	A	18	36123664	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.C971T:p.A324V;SLC39A6:NM_001099406:exon3:c.C146T:p.A49V;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C146T:p.A49V;ENSG00000141424:ENST00000590986:exon4:c.C971T:p.A324V;ENSG00000141424:ENST00000269187:exon4:c.C971T:p.A324V;	0.996511722185987	0.966
18	33703627	G	C	18	36123664	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.C971G:p.A324G;SLC39A6:NM_001099406:exon3:c.C146G:p.A49G;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C146G:p.A49G;ENSG00000141424:ENST00000590986:exon4:c.C971G:p.A324G;ENSG00000141424:ENST00000269187:exon4:c.C971G:p.A324G;	0.936558196080834	0.656
18	33703627	G	T	18	36123664	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon4:c.C971A:p.A324D;SLC39A6:NM_001099406:exon3:c.C146A:p.A49D;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon3:c.C146A:p.A49D;ENSG00000141424:ENST00000590986:exon4:c.C971A:p.A324D;ENSG00000141424:ENST00000269187:exon4:c.C971A:p.A324D;	0.94641539263139	0.736
18	33703628	C	A	18	36123665	y	y	splicing	SLC39A6(NM_012319:exon5:c.971-1G>T;NM_001099406:exon4:c.146-1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.971-1G>T;ENST00000590986:exon5:c.971-1G>T;ENST00000440549:exon4:c.146-1G>T)	.	.	0.999981760802075	0.956
18	33703628	C	G	18	36123665	y	y	splicing	SLC39A6(NM_012319:exon5:c.971-1G>C;NM_001099406:exon4:c.146-1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.971-1G>C;ENST00000590986:exon5:c.971-1G>C;ENST00000440549:exon4:c.146-1G>C)	.	.	0.999981760802075	0.956
18	33703628	C	T	18	36123665	y	y	splicing	SLC39A6(NM_012319:exon5:c.971-1G>A;NM_001099406:exon4:c.146-1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.971-1G>A;ENST00000590986:exon5:c.971-1G>A;ENST00000440549:exon4:c.146-1G>A)	.	.	0.999981760802075	0.956
18	33703629	T	A	18	36123666	y	y	splicing	SLC39A6(NM_012319:exon5:c.971-2A>T;NM_001099406:exon4:c.146-2A>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.971-2A>T;ENST00000590986:exon5:c.971-2A>T;ENST00000440549:exon4:c.146-2A>T)	.	.	0.999989917668626	0.948
18	33703629	T	C	18	36123666	y	y	splicing	SLC39A6(NM_012319:exon5:c.971-2A>G;NM_001099406:exon4:c.146-2A>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.971-2A>G;ENST00000590986:exon5:c.971-2A>G;ENST00000440549:exon4:c.146-2A>G)	.	.	0.999989917668626	0.948
18	33703629	T	G	18	36123666	y	y	splicing	SLC39A6(NM_012319:exon5:c.971-2A>C;NM_001099406:exon4:c.146-2A>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon5:c.971-2A>C;ENST00000590986:exon5:c.971-2A>C;ENST00000440549:exon4:c.146-2A>C)	.	.	0.999989917668626	0.948
18	33703630	G	A	18	36123667	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.970812250672872	0.274
18	33703630	G	C	18	36123667	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999793202400338	0.992
18	33703630	G	T	18	36123667	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998445423926844	0.894
18	33703631	T	A	18	36123668	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00108479089038171	0.038
18	33703631	T	C	18	36123668	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.55585455389312E-4	0.214
18	33703631	T	G	18	36123668	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00113772141430516	0.072
18	33703632	C	A	18	36123669	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.0118196969851E-4	0.02
18	33703632	C	G	18	36123669	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.55016472681578E-4	0.058
18	33703632	C	T	18	36123669	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.10217130627034E-4	0.018
18	33703633	A	C	18	36123670	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.445734118303126	0.596
18	33703633	A	G	18	36123670	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00102660020986604	0.124
18	33703633	A	T	18	36123670	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999957162090988	0.976
18	33703634	A	C	18	36123671	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.715384538783608	0.468
18	33703634	A	G	18	36123671	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0023804994112959	0.032
18	33703634	A	T	18	36123671	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.781440906434664	0.628
18	33703635	A	C	18	36123672	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.882098923975952	0.756
18	33703635	A	G	18	36123672	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.87923475841751E-4	0.036
18	33703635	A	T	18	36123672	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.963782563609318	0.708
18	33703636	C	A	18	36123673	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.56065018706739E-4	0.154
18	33703636	C	G	18	36123673	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.3986980995232E-4	0.134
18	33703636	C	T	18	36123673	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.51003913400842E-4	0.094
18	33703637	A	C	18	36123674	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.83748287473856	0.406
18	33703637	A	G	18	36123674	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.93576533117158E-5	0.094
18	33703637	A	T	18	36123674	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999964691022022	0.92
18	33703638	A	C	18	36123675	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.987544080573035	0.69
18	33703638	A	G	18	36123675	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.257239859169559	0.326
18	33703638	A	T	18	36123675	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.997134228815479	0.816
18	33703639	A	C	18	36123676	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.902388868669102	0.496
18	33703639	A	G	18	36123676	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0298972820839839	0.146
18	33703639	A	T	18	36123676	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.93642961974009	0.542
18	33704475	A	C	18	36124512	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.80470011310062E-4	0.02
18	33704475	A	G	18	36124512	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.4015472977322E-4	0.046
18	33704475	A	T	18	36124512	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.67192203483671E-4	0.006
18	33704476	A	C	18	36124513	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0126748857641958	0.042
18	33704476	A	G	18	36124513	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00545567321958512	0.058
18	33704476	A	T	18	36124513	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0126748857641958	0.106
18	33704477	T	A	18	36124514	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.91787005443595E-5	0.002
18	33704477	T	C	18	36124514	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.88089478630936E-5	0.004
18	33704477	T	G	18	36124514	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.58950264853367E-4	0.06
18	33704478	T	A	18	36124515	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.44585720786494E-4	0.12
18	33704478	T	C	18	36124515	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.58742344684944E-4	0.026
18	33704478	T	G	18	36124515	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00227491553345361	0.118
18	33704479	T	A	18	36124516	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.927390105927603	0.43
18	33704479	T	C	18	36124516	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.877315289196049	0.486
18	33704479	T	G	18	36124516	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.891509236501943	0.488
18	33704480	T	A	18	36124517	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999825722825142	0.988
18	33704480	T	C	18	36124517	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999646866361283	0.97
18	33704480	T	G	18	36124517	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999869468772436	0.992
18	33704481	A	C	18	36124518	y	y	splicing	SLC39A6(NM_012319:exon4:c.970+2T>G;NM_001099406:exon3:c.145+2T>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.970+2T>G;ENST00000590986:exon4:c.970+2T>G;ENST00000440549:exon3:c.145+2T>G)	.	.	0.999986741007567	0.936
18	33704481	A	G	18	36124518	y	y	splicing	SLC39A6(NM_012319:exon4:c.970+2T>C;NM_001099406:exon3:c.145+2T>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.970+2T>C;ENST00000590986:exon4:c.970+2T>C;ENST00000440549:exon3:c.145+2T>C)	.	.	0.999789305117188	0.888
18	33704481	A	T	18	36124518	y	y	splicing	SLC39A6(NM_012319:exon4:c.970+2T>A;NM_001099406:exon3:c.145+2T>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.970+2T>A;ENST00000590986:exon4:c.970+2T>A;ENST00000440549:exon3:c.145+2T>A)	.	.	0.999986741007567	0.938
18	33704482	C	A	18	36124519	y	y	splicing	SLC39A6(NM_012319:exon4:c.970+1G>T;NM_001099406:exon3:c.145+1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.970+1G>T;ENST00000590986:exon4:c.970+1G>T;ENST00000440549:exon3:c.145+1G>T)	.	.	0.999987670894945	0.94
18	33704482	C	G	18	36124519	y	y	splicing	SLC39A6(NM_012319:exon4:c.970+1G>C;NM_001099406:exon3:c.145+1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.970+1G>C;ENST00000590986:exon4:c.970+1G>C;ENST00000440549:exon3:c.145+1G>C)	.	.	0.999987670894945	0.94
18	33704482	C	T	18	36124519	y	y	splicing	SLC39A6(NM_012319:exon4:c.970+1G>A;NM_001099406:exon3:c.145+1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.970+1G>A;ENST00000590986:exon4:c.970+1G>A;ENST00000440549:exon3:c.145+1G>A)	.	.	0.999987670894945	0.94
18	33704483	C	A	18	36124520	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.G970T:p.A324S;SLC39A6:NM_001099406:exon2:c.G145T:p.A49S;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.G145T:p.A49S;ENSG00000141424:ENST00000590986:exon3:c.G970T:p.A324S;ENSG00000141424:ENST00000269187:exon3:c.G970T:p.A324S;	0.9999909253838	1.0
18	33704483	C	G	18	36124520	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.G970C:p.A324P;SLC39A6:NM_001099406:exon2:c.G145C:p.A49P;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.G145C:p.A49P;ENSG00000141424:ENST00000590986:exon3:c.G970C:p.A324P;ENSG00000141424:ENST00000269187:exon3:c.G970C:p.A324P;	0.999996943867383	1.0
18	33704483	C	T	18	36124520	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.G970A:p.A324T;SLC39A6:NM_001099406:exon2:c.G145A:p.A49T;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.G145A:p.A49T;ENSG00000141424:ENST00000590986:exon3:c.G970A:p.A324T;ENSG00000141424:ENST00000269187:exon3:c.G970A:p.A324T;	0.999997011394692	1.0
18	33704484	T	A	18	36124521	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon3:c.A969T:p.I323I;SLC39A6:NM_001099406:exon2:c.A144T:p.I48I;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.A144T:p.I48I;ENSG00000141424:ENST00000590986:exon3:c.A969T:p.I323I;ENSG00000141424:ENST00000269187:exon3:c.A969T:p.I323I;	0.971968438643944	0.858
18	33704484	T	C	18	36124521	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.A969G:p.I323M;SLC39A6:NM_001099406:exon2:c.A144G:p.I48M;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.A144G:p.I48M;ENSG00000141424:ENST00000590986:exon3:c.A969G:p.I323M;ENSG00000141424:ENST00000269187:exon3:c.A969G:p.I323M;	0.995730416055809	0.882
18	33704484	T	G	18	36124521	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon3:c.A969C:p.I323I;SLC39A6:NM_001099406:exon2:c.A144C:p.I48I;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.A144C:p.I48I;ENSG00000141424:ENST00000590986:exon3:c.A969C:p.I323I;ENSG00000141424:ENST00000269187:exon3:c.A969C:p.I323I;	0.280958291693145	0.456
18	33704485	A	C	18	36124522	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.T968G:p.I323R;SLC39A6:NM_001099406:exon2:c.T143G:p.I48R;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.T143G:p.I48R;ENSG00000141424:ENST00000590986:exon3:c.T968G:p.I323R;ENSG00000141424:ENST00000269187:exon3:c.T968G:p.I323R;	0.0284618653310002	0.392
18	33704485	A	G	18	36124522	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.T968C:p.I323T;SLC39A6:NM_001099406:exon2:c.T143C:p.I48T;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.T143C:p.I48T;ENSG00000141424:ENST00000590986:exon3:c.T968C:p.I323T;ENSG00000141424:ENST00000269187:exon3:c.T968C:p.I323T;	5.83039390560596E-4	0.02
18	33704485	A	T	18	36124522	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.T968A:p.I323K;SLC39A6:NM_001099406:exon2:c.T143A:p.I48K;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000440549:exon2:c.T143A:p.I48K;ENSG00000141424:ENST00000590986:exon3:c.T968A:p.I323K;ENSG00000141424:ENST00000269187:exon3:c.T968A:p.I323K;	0.0317176199811164	0.424
18	33704662	C	A	18	36124699	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.G791T:p.C264F;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon3:c.G791T:p.C264F;ENSG00000141424:ENST00000269187:exon3:c.G791T:p.C264F;	0.96051274361174	0.706
18	33704662	C	G	18	36124699	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.G791C:p.C264S;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon3:c.G791C:p.C264S;ENSG00000141424:ENST00000269187:exon3:c.G791C:p.C264S;	0.96480139287234	0.73
18	33704662	C	T	18	36124699	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.G791A:p.C264Y;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon3:c.G791A:p.C264Y;ENSG00000141424:ENST00000269187:exon3:c.G791A:p.C264Y;	0.948150065808407	0.572
18	33704663	A	C	18	36124700	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.T790G:p.C264G;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon3:c.T790G:p.C264G;ENSG00000141424:ENST00000269187:exon3:c.T790G:p.C264G;	0.765867423807345	0.558
18	33704663	A	G	18	36124700	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.T790C:p.C264R;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon3:c.T790C:p.C264R;ENSG00000141424:ENST00000269187:exon3:c.T790C:p.C264R;	0.738373498106229	0.524
18	33704663	A	T	18	36124700	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon3:c.T790A:p.C264S;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon3:c.T790A:p.C264S;ENSG00000141424:ENST00000269187:exon3:c.T790A:p.C264S;	0.657973121649373	0.71
18	33704664	C	A	18	36124701	y	y	splicing	SLC39A6(NM_012319:exon4:c.790-1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.790-1G>T;ENST00000590986:exon4:c.790-1G>T)	.	.	0.999978952611685	0.922
18	33704664	C	G	18	36124701	y	y	splicing	SLC39A6(NM_012319:exon4:c.790-1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.790-1G>C;ENST00000590986:exon4:c.790-1G>C)	.	.	0.999978952611685	0.916
18	33704664	C	T	18	36124701	y	y	splicing	SLC39A6(NM_012319:exon4:c.790-1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.790-1G>A;ENST00000590986:exon4:c.790-1G>A)	.	.	0.999978952611685	0.92
18	33704665	T	A	18	36124702	y	y	splicing	SLC39A6(NM_012319:exon4:c.790-2A>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.790-2A>T;ENST00000590986:exon4:c.790-2A>T)	.	.	0.99996509239462	0.926
18	33704665	T	C	18	36124702	y	y	splicing	SLC39A6(NM_012319:exon4:c.790-2A>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.790-2A>G;ENST00000590986:exon4:c.790-2A>G)	.	.	0.99996509239462	0.93
18	33704665	T	G	18	36124702	y	y	splicing	SLC39A6(NM_012319:exon4:c.790-2A>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon4:c.790-2A>C;ENST00000590986:exon4:c.790-2A>C)	.	.	0.99996509239462	0.93
18	33704666	G	A	18	36124703	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.1236148233398E-4	0.004
18	33704666	G	C	18	36124703	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.996281630280558	0.812
18	33704666	G	T	18	36124703	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.520201509173079	0.47
18	33704667	A	C	18	36124704	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.48586220988443E-4	0.016
18	33704667	A	G	18	36124704	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.06749683581614E-5	0.002
18	33704667	A	T	18	36124704	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.59570454343637E-5	0.0
18	33704668	A	C	18	36124705	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0272976932309794	0.142
18	33704668	A	G	18	36124705	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.61754874135948E-4	0.004
18	33704668	A	T	18	36124705	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00952244897185029	0.106
18	33704669	A	C	18	36124706	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00130660232238553	0.126
18	33704669	A	G	18	36124706	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.67514129589334E-5	0.002
18	33704669	A	T	18	36124706	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00291836543309978	0.084
18	33704670	G	A	18	36124707	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.28184793583722E-4	0.004
18	33704670	G	C	18	36124707	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.56525418522251E-4	0.018
18	33704670	G	T	18	36124707	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00226110790503135	0.042
18	33704671	A	C	18	36124708	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.39188377346297E-4	0.12
18	33704671	A	G	18	36124708	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.95652240882968E-4	0.008
18	33704671	A	T	18	36124708	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00166741592501877	0.092
18	33704672	A	C	18	36124709	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00605426497228189	0.3
18	33704672	A	G	18	36124709	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00521239244273483	0.078
18	33704672	A	T	18	36124709	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0680296625208476	0.27
18	33704673	A	C	18	36124710	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0578376556019247	0.298
18	33704673	A	G	18	36124710	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0107672473584106	0.15
18	33704673	A	T	18	36124710	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.0851489955250778	0.292
18	33704674	C	A	18	36124711	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.65219727851746E-5	0.0
18	33704674	C	G	18	36124711	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.23446996518909E-5	0.0
18	33704674	C	T	18	36124711	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.29804378110234E-5	0.0
18	33704675	A	C	18	36124712	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00139278279897066	0.152
18	33704675	A	G	18	36124712	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.56104868111434E-4	0.012
18	33704675	A	T	18	36124712	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.999941937251629	0.954
18	33706174	C	A	18	36126211	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.85794004200395E-5	0.002
18	33706174	C	G	18	36126211	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.85794004200395E-5	0.004
18	33706174	C	T	18	36126211	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.03599896349453E-5	0.0
18	33706175	A	C	18	36126212	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.28914150840534E-5	0.0
18	33706175	A	G	18	36126212	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.38090722851431E-5	0.0
18	33706175	A	T	18	36126212	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.26118197382907E-5	0.0
18	33706176	T	A	18	36126213	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.21664202471507E-5	0.004
18	33706176	T	C	18	36126213	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.21101076023637E-5	0.008
18	33706176	T	G	18	36126213	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.76508468723586E-4	0.04
18	33706177	C	A	18	36126214	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.995806359122373	0.552
18	33706177	C	G	18	36126214	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.969565939846162	0.616
18	33706177	C	T	18	36126214	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998747803132278	0.678
18	33706178	T	A	18	36126215	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.987017611047676	0.718
18	33706178	T	C	18	36126215	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.990797320904023	0.69
18	33706178	T	G	18	36126215	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.980968340593649	0.744
18	33706179	T	A	18	36126216	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998245445493588	0.704
18	33706179	T	C	18	36126216	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.211411173667481	0.44
18	33706179	T	G	18	36126216	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.992993847494791	0.728
18	33706180	A	C	18	36126217	y	y	splicing	SLC39A6(NM_012319:exon3:c.789+2T>G)	.	.	splicing	ENSG00000141424(ENST00000269187:exon3:c.789+2T>G;ENST00000590986:exon3:c.789+2T>G)	.	.	0.999992446697775	0.93
18	33706180	A	G	18	36126217	y	y	splicing	SLC39A6(NM_012319:exon3:c.789+2T>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon3:c.789+2T>C;ENST00000590986:exon3:c.789+2T>C)	.	.	0.989838600809155	0.654
18	33706180	A	T	18	36126217	y	y	splicing	SLC39A6(NM_012319:exon3:c.789+2T>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon3:c.789+2T>A;ENST00000590986:exon3:c.789+2T>A)	.	.	0.999992446697775	0.93
18	33706181	C	A	18	36126218	y	y	splicing	SLC39A6(NM_012319:exon3:c.789+1G>T)	.	.	splicing	ENSG00000141424(ENST00000269187:exon3:c.789+1G>T;ENST00000590986:exon3:c.789+1G>T)	.	.	0.999990361384395	0.926
18	33706181	C	G	18	36126218	y	y	splicing	SLC39A6(NM_012319:exon3:c.789+1G>C)	.	.	splicing	ENSG00000141424(ENST00000269187:exon3:c.789+1G>C;ENST00000590986:exon3:c.789+1G>C)	.	.	0.999990361384395	0.926
18	33706181	C	T	18	36126218	y	y	splicing	SLC39A6(NM_012319:exon3:c.789+1G>A)	.	.	splicing	ENSG00000141424(ENST00000269187:exon3:c.789+1G>A;ENST00000590986:exon3:c.789+1G>A)	.	.	0.999990361384395	0.926
18	33706182	C	A	18	36126219	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.G789T:p.E263D;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon2:c.G789T:p.E263D;ENSG00000141424:ENST00000269187:exon2:c.G789T:p.E263D;	0.999987936048158	0.988
18	33706182	C	G	18	36126219	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.G789C:p.E263D;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon2:c.G789C:p.E263D;ENSG00000141424:ENST00000269187:exon2:c.G789C:p.E263D;	0.999946175694708	0.896
18	33706182	C	T	18	36126219	y	y	exonic	SLC39A6	synonymous SNV	SLC39A6:NM_012319:exon2:c.G789A:p.E263E;	exonic	ENSG00000141424	synonymous SNV	ENSG00000141424:ENST00000590986:exon2:c.G789A:p.E263E;ENSG00000141424:ENST00000269187:exon2:c.G789A:p.E263E;	0.999851979272323	0.958
18	33706183	T	A	18	36126220	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.A788T:p.E263V;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon2:c.A788T:p.E263V;ENSG00000141424:ENST00000269187:exon2:c.A788T:p.E263V;	0.998357504918274	0.94
18	33706183	T	C	18	36126220	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.A788G:p.E263G;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon2:c.A788G:p.E263G;ENSG00000141424:ENST00000269187:exon2:c.A788G:p.E263G;	0.99964634614771	0.988
18	33706183	T	G	18	36126220	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.A788C:p.E263A;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon2:c.A788C:p.E263A;ENSG00000141424:ENST00000269187:exon2:c.A788C:p.E263A;	0.993874559474421	0.9
18	33706184	C	A	18	36126221	y	y	exonic	SLC39A6	stopgain SNV	SLC39A6:NM_012319:exon2:c.G787T:p.E263X;	exonic	ENSG00000141424	stopgain SNV	ENSG00000141424:ENST00000590986:exon2:c.G787T:p.E263X;ENSG00000141424:ENST00000269187:exon2:c.G787T:p.E263X;	0.982788361986401	0.834
18	33706184	C	G	18	36126221	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.G787C:p.E263Q;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon2:c.G787C:p.E263Q;ENSG00000141424:ENST00000269187:exon2:c.G787C:p.E263Q;	0.165293849755347	0.384
18	33706184	C	T	18	36126221	y	y	exonic	SLC39A6	nonsynonymous SNV	SLC39A6:NM_012319:exon2:c.G787A:p.E263K;	exonic	ENSG00000141424	nonsynonymous SNV	ENSG00000141424:ENST00000590986:exon2:c.G787A:p.E263K;ENSG00000141424:ENST00000269187:exon2:c.G787A:p.E263K;	0.938368662842713	0.754
18	33706978	T	A	18	36127015	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	2.84433848423321E-4	0.01
18	33706978	T	C	18	36127015	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	7.97464691154185E-4	0.008
18	33706978	T	G	18	36127015	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	4.09573264927593E-4	0.052
18	33706979	C	A	18	36127016	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.148862359381068	0.402
18	33706979	C	G	18	36127016	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.0427597530138513	0.284
18	33706979	C	T	18	36127016	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00132324438800164	0.19
18	33706980	C	A	18	36127017	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999987958061382	0.772
18	33706980	C	G	18	36127017	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999987958061382	0.772
18	33706980	C	T	18	36127017	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999987958061382	0.77
18	33706981	T	A	18	36127018	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999322499065183	0.586
18	33706981	T	C	18	36127018	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999322499065183	0.57
18	33706981	T	G	18	36127018	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999322499065183	0.572
18	33706982	A	C	18	36127019	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.107456500978183	0.404
18	33706982	A	G	18	36127019	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.30812471599434E-5	0.0
18	33706982	A	T	18	36127019	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.52370192146889E-4	0.062
18	33706983	G	A	18	36127020	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.66411484726977E-5	0.014
18	33706983	G	C	18	36127020	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.6230997490028E-5	0.02
18	33706983	G	T	18	36127020	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.48038794618342E-5	0.01
18	33706984	A	C	18	36127021	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.00232472214909126	0.196
18	33706984	A	G	18	36127021	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	7.40670157114436E-5	0.0
18	33706984	A	T	18	36127021	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.92491541398705E-4	0.122
18	33706985	A	C	18	36127022	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.34526942127884E-5	0.064
18	33706985	A	G	18	36127022	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.66333378001466E-5	0.022
18	33706985	A	T	18	36127022	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.27535843484357E-5	0.052
18	33706986	A	C	18	36127023	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.8550765476009E-5	0.002
18	33706986	A	G	18	36127023	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.13139191527313E-5	0.094
18	33706986	A	T	18	36127023	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.65616627752171E-5	0.002
18	33706987	A	C	18	36127024	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.1646035895148E-5	0.072
18	33706987	A	G	18	36127024	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.26378964678079E-5	0.022
18	33706987	A	T	18	36127024	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.08403346567821E-5	0.08
18	33706988	G	A	18	36127025	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.35113062486365E-5	0.016
18	33706988	G	C	18	36127025	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	4.86763573858658E-5	0.026
18	33706988	G	T	18	36127025	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.47482022882172E-5	0.018
18	33706989	A	C	18	36127026	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.14081293193437E-4	0.232
18	33706989	A	G	18	36127026	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.70509622590688E-5	0.01
18	33706989	A	T	18	36127026	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.41906121283999E-4	0.186
18	33706990	C	A	18	36127027	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.31583490056235E-5	0.002
18	33706990	C	G	18	36127027	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.20216290008404E-5	0.0
18	33706990	C	T	18	36127027	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	8.48778292564701E-5	0.018
18	33706991	A	C	18	36127028	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	5.77866181833626E-4	0.144
18	33706991	A	G	18	36127028	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	3.03837790647339E-4	0.022
18	33706991	A	T	18	36127028	y	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	0.998631231564072	0.882
18	33709056	T	A	18	36129093	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.49229997755661E-4	0.058
18	33709056	T	C	18	36129093	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.33190275480203E-4	0.04
18	33709056	T	G	18	36129093	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.73186234223837E-5	0.044
18	33709057	C	A	18	36129094	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.35684985412546E-4	0.01
18	33709057	C	G	18	36129094	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	9.29287816877174E-4	0.012
18	33709057	C	T	18	36129094	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	6.29075920238517E-4	0.026
18	33709058	C	A	18	36129095	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.98270416570594E-4	0.018
18	33709058	C	G	18	36129095	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.98270416570594E-4	0.002
18	33709058	C	T	18	36129095	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.80491196291995E-4	0.004
18	33709059	C	A	18	36129096	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.45494533938285E-4	0.016
18	33709059	C	G	18	36129096	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.45494533938285E-4	0.016
18	33709059	C	T	18	36129096	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.23481599293639E-4	0.014
18	33709060	G	A	18	36129097	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.89903870182886E-4	0.018
18	33709060	G	C	18	36129097	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.89066721672276E-4	0.014
18	33709060	G	T	18	36129097	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.89903870182886E-4	0.016
18	33709061	G	A	18	36129098	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.54636443065537E-4	0.002
18	33709061	G	C	18	36129098	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	2.48380015150858E-4	0.068
18	33709061	G	T	18	36129098	n	y	intronic	SLC39A6	.	.	intronic	ENSG00000141424	.	.	1.69869282893757E-4	0.008
18	33709062	A	C	18	36129099	n	y	intronic	SLC39A6	.	.	splicing	ENSG00000141424	.	.	1.82509587071013E-4	0.008
18	33709062	A	G	18	36129099	n	y	intronic	SLC39A6	.	.	splicing	ENSG00000141424	.	.	1.82509587071013E-4	0.008
18	33709062	A	T	18	36129099	n	y	intronic	SLC39A6	.	.	splicing	ENSG00000141424	.	.	1.38862223340533E-4	0.008
18	33709063	C	A	18	36129100	n	y	intronic	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.00115202640557102	0.01
18	33709063	C	G	18	36129100	n	y	intronic	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.00115202640557102	0.008
18	33709063	C	T	18	36129100	n	y	intronic	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.00115202640557102	0.012
18	33709064	C	A	18	36129101	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	9.13516392517987E-4	0.01
18	33709064	C	G	18	36129101	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	9.23111026084495E-4	0.008
18	33709064	C	T	18	36129101	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00115202640557102	0.008
18	33709065	T	A	18	36129102	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	1.72533168684849E-4	0.004
18	33709065	T	C	18	36129102	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	2.52274793601984E-4	0.016
18	33709065	T	G	18	36129102	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	2.52274793601984E-4	0.016
18	33709066	G	A	18	36129103	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	1.61821323901995E-4	0.032
18	33709066	G	C	18	36129103	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	1.61821323901995E-4	0.036
18	33709066	G	T	18	36129103	n	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	1.61821323901995E-4	0.032
18	33709069	A	C	18	36129106	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	6.45601791189925E-4	0.01
18	33709069	A	G	18	36129106	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00117336864154088	0.01
18	33709069	A	T	18	36129106	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00147962300689192	0.01
18	33709070	G	A	18	36129107	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	1.7905403730535E-4	0.014
18	33709070	G	C	18	36129107	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	1.64473123680481E-4	0.0
18	33709070	G	T	18	36129107	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	1.82127296638167E-4	0.004
18	33709071	A	C	18	36129108	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.860256365252493	0.636
18	33709071	A	G	18	36129108	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.931684483804414	0.672
18	33709071	A	T	18	36129108	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.881055254019405	0.644
18	33709072	C	A	18	36129109	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.999984514245269	0.98
18	33709072	C	G	18	36129109	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.999992304748988	0.972
18	33709072	C	T	18	36129109	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.999983612254194	0.986
18	33709073	T	A	18	36129110	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.989299077357375	0.742
18	33709073	T	C	18	36129110	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.986946075028794	0.798
18	33709073	T	G	18	36129110	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.88066387551788	0.574
18	33709074	C	A	18	36129111	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.99960657777533	0.694
18	33709074	C	G	18	36129111	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.993786403609986	0.692
18	33709074	C	T	18	36129111	y	y	intronic	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.0148453434984573	0.036
18	33709075	A	C	18	36129112	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999967504297517	0.896
18	33709075	A	G	18	36129112	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999882138124175	0.844
18	33709075	A	T	18	36129112	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999945570227849	0.908
18	33709076	C	A	18	36129113	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999965414246739	0.948
18	33709076	C	G	18	36129113	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999965414246739	0.946
18	33709076	C	T	18	36129113	y	y	splicing	SLC39A6	.	.	splicing	ENSG00000141424	.	.	0.999965414246739	0.936
18	33709077	G	A	18	36129114	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00115202640557102	0.05
18	33709077	G	C	18	36129114	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00160248286670858	0.27
18	33709077	G	T	18	36129114	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00115202640557102	0.032
18	33709078	T	A	18	36129115	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.961994586857178	0.786
18	33709078	T	C	18	36129115	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.984205973089799	0.838
18	33709078	T	G	18	36129115	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.721806348445077	0.688
18	33709079	C	A	18	36129116	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00332109733170452	0.046
18	33709079	C	G	18	36129116	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00115202640557102	0.012
18	33709079	C	T	18	36129116	y	y	UTR5	SLC39A6	.	.	UTR5	ENSG00000141424	.	.	0.00139677819534496	0.006
18	33709458	A	C	18	36129495	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	9.97339794177905E-5	0.002
18	33709458	A	G	18	36129495	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	9.97339794177905E-5	0.002
18	33709458	A	T	18	36129495	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	1.8511678204642E-4	0.02
18	33709459	T	A	18	36129496	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	1.77393242279274E-4	0.006
18	33709459	T	C	18	36129496	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	1.17360650904784E-4	0.002
18	33709459	T	G	18	36129496	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	1.17360650904784E-4	0.002
18	33709460	T	A	18	36129497	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	6.00832436904377E-5	0.0
18	33709460	T	C	18	36129497	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	1.09202050356324E-4	0.0
18	33709460	T	G	18	36129497	n	y	upstream	ELP2;SLC39A6	.	.	UTR5	ENSG00000134759	.	.	1.09202050356324E-4	0.0
18	33709461	G	A	18	36129498	n	y	upstream	ELP2;SLC39A6	.	.	splicing	ENSG00000134759	.	.	2.93008933363103E-5	0.002
18	33709461	G	C	18	36129498	n	y	upstream	ELP2;SLC39A6	.	.	splicing	ENSG00000134759	.	.	2.93008933363103E-5	0.002
18	33709461	G	T	18	36129498	n	y	upstream	ELP2;SLC39A6	.	.	splicing	ENSG00000134759	.	.	2.93008933363103E-5	0.002
18	33709462	T	A	18	36129499	n	y	upstream	ELP2;SLC39A6	.	.	splicing	ENSG00000134759	.	.	5.05808194911997E-5	0.0
18	33709462	T	C	18	36129499	n	y	upstream	ELP2;SLC39A6	.	.	splicing	ENSG00000134759	.	.	2.43346443961288E-5	0.0
18	33709462	T	G	18	36129499	n	y	upstream	ELP2;SLC39A6	.	.	splicing	ENSG00000134759	.	.	2.43346443961288E-5	0.0
18	33709463	A	C	18	36129500	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.90066968634554E-5	0.002
18	33709463	A	G	18	36129500	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.90066968634554E-5	0.002
18	33709463	A	T	18	36129500	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.90066968634554E-5	0.002
18	33709464	A	C	18	36129501	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.39623879363549E-4	0.002
18	33709464	A	G	18	36129501	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.39623879363549E-4	0.002
18	33709464	A	T	18	36129501	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	4.77798218238944E-4	0.002
18	33709465	G	A	18	36129502	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	1.06444635118673E-4	0.0
18	33709465	G	C	18	36129502	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.96653435898131E-5	0.0
18	33709465	G	T	18	36129502	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	5.70096591683183E-5	0.0
18	33709466	C	A	18	36129503	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.12051756480288E-5	0.0
18	33709466	C	G	18	36129503	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.12051756480288E-5	0.0
18	33709466	C	T	18	36129503	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	3.12051756480288E-5	0.0
18	33709467	A	C	18	36129504	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	6.09184747739173E-5	0.0
18	33709467	A	G	18	36129504	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	6.09184747739173E-5	0.0
18	33709467	A	T	18	36129504	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	7.08841829632718E-5	0.0
18	33709468	G	A	18	36129505	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	4.12689098276539E-4	0.034
18	33709468	G	C	18	36129505	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	2.28931909661929E-4	0.038
18	33709468	G	T	18	36129505	n	y	upstream	ELP2;SLC39A6	.	.	intronic	ENSG00000134759	.	.	2.93338122508907E-4	0.038
18	33710032	C	A	18	36130069	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon1:c.C136A:p.L46M;ELP2:NM_001242875:exon1:c.C136A:p.L46M;ELP2:NM_001242878:exon1:c.C136A:p.L46M;ELP2:NM_018255:exon1:c.C136A:p.L46M;ELP2:NM_001242876:exon1:c.C136A:p.L46M;ELP2:NM_001242877:exon1:c.C136A:p.L46M;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000540799:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000542824:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000351393:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000442325:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000350494:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000423854:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000544267:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000358232:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000539560:exon1:c.C136A:p.L46M;ENSG00000134759:ENST00000545632:exon1:c.C136A:p.L46M;	1.30917082355978E-4	0.132
18	33710032	C	G	18	36130069	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon1:c.C136G:p.L46V;ELP2:NM_001242875:exon1:c.C136G:p.L46V;ELP2:NM_001242878:exon1:c.C136G:p.L46V;ELP2:NM_018255:exon1:c.C136G:p.L46V;ELP2:NM_001242876:exon1:c.C136G:p.L46V;ELP2:NM_001242877:exon1:c.C136G:p.L46V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000540799:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000542824:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000351393:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000442325:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000350494:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000423854:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000544267:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000358232:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000539560:exon1:c.C136G:p.L46V;ENSG00000134759:ENST00000545632:exon1:c.C136G:p.L46V;	1.59767818943364E-4	0.178
18	33710032	C	T	18	36130069	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon1:c.C136T:p.L46L;ELP2:NM_001242875:exon1:c.C136T:p.L46L;ELP2:NM_001242878:exon1:c.C136T:p.L46L;ELP2:NM_018255:exon1:c.C136T:p.L46L;ELP2:NM_001242876:exon1:c.C136T:p.L46L;ELP2:NM_001242877:exon1:c.C136T:p.L46L;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000540799:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000542824:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000351393:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000442325:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000350494:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000423854:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000544267:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000358232:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000539560:exon1:c.C136T:p.L46L;ENSG00000134759:ENST00000545632:exon1:c.C136T:p.L46L;	0.00151156498259564	0.128
18	33710033	T	A	18	36130070	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon1:c.T137A:p.L46Q;ELP2:NM_001242875:exon1:c.T137A:p.L46Q;ELP2:NM_001242878:exon1:c.T137A:p.L46Q;ELP2:NM_018255:exon1:c.T137A:p.L46Q;ELP2:NM_001242876:exon1:c.T137A:p.L46Q;ELP2:NM_001242877:exon1:c.T137A:p.L46Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000540799:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000542824:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000351393:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000442325:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000350494:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000423854:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000544267:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000358232:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000539560:exon1:c.T137A:p.L46Q;ENSG00000134759:ENST00000545632:exon1:c.T137A:p.L46Q;	3.16254309832108E-4	0.122
18	33710033	T	C	18	36130070	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon1:c.T137C:p.L46P;ELP2:NM_001242875:exon1:c.T137C:p.L46P;ELP2:NM_001242878:exon1:c.T137C:p.L46P;ELP2:NM_018255:exon1:c.T137C:p.L46P;ELP2:NM_001242876:exon1:c.T137C:p.L46P;ELP2:NM_001242877:exon1:c.T137C:p.L46P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000540799:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000542824:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000351393:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000442325:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000350494:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000423854:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000544267:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000358232:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000539560:exon1:c.T137C:p.L46P;ENSG00000134759:ENST00000545632:exon1:c.T137C:p.L46P;	1.99595264263399E-4	0.002
18	33710033	T	G	18	36130070	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon1:c.T137G:p.L46R;ELP2:NM_001242875:exon1:c.T137G:p.L46R;ELP2:NM_001242878:exon1:c.T137G:p.L46R;ELP2:NM_018255:exon1:c.T137G:p.L46R;ELP2:NM_001242876:exon1:c.T137G:p.L46R;ELP2:NM_001242877:exon1:c.T137G:p.L46R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000540799:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000542824:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000351393:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000442325:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000350494:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000423854:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000544267:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000358232:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000539560:exon1:c.T137G:p.L46R;ENSG00000134759:ENST00000545632:exon1:c.T137G:p.L46R;	2.3958646881116E-4	0.02
18	33710034	G	A	18	36130071	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon1:c.G138A:p.L46L;ELP2:NM_001242875:exon1:c.G138A:p.L46L;ELP2:NM_001242878:exon1:c.G138A:p.L46L;ELP2:NM_018255:exon1:c.G138A:p.L46L;ELP2:NM_001242876:exon1:c.G138A:p.L46L;ELP2:NM_001242877:exon1:c.G138A:p.L46L;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000540799:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000542824:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000351393:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000442325:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000350494:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000423854:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000544267:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000358232:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000539560:exon1:c.G138A:p.L46L;ENSG00000134759:ENST00000545632:exon1:c.G138A:p.L46L;	0.999829418750317	1.0
18	33710034	G	C	18	36130071	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon1:c.G138C:p.L46L;ELP2:NM_001242875:exon1:c.G138C:p.L46L;ELP2:NM_001242878:exon1:c.G138C:p.L46L;ELP2:NM_018255:exon1:c.G138C:p.L46L;ELP2:NM_001242876:exon1:c.G138C:p.L46L;ELP2:NM_001242877:exon1:c.G138C:p.L46L;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000540799:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000542824:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000351393:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000442325:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000350494:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000423854:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000544267:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000358232:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000539560:exon1:c.G138C:p.L46L;ENSG00000134759:ENST00000545632:exon1:c.G138C:p.L46L;	0.999979451502376	0.984
18	33710034	G	T	18	36130071	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon1:c.G138T:p.L46L;ELP2:NM_001242875:exon1:c.G138T:p.L46L;ELP2:NM_001242878:exon1:c.G138T:p.L46L;ELP2:NM_018255:exon1:c.G138T:p.L46L;ELP2:NM_001242876:exon1:c.G138T:p.L46L;ELP2:NM_001242877:exon1:c.G138T:p.L46L;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542430:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000540799:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000542824:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000351393:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000442325:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000350494:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000423854:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000544267:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000358232:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000539560:exon1:c.G138T:p.L46L;ENSG00000134759:ENST00000545632:exon1:c.G138T:p.L46L;	0.999544873488646	0.994
18	33710035	G	A	18	36130072	y	y	splicing	ELP2(NM_001242875:exon1:c.138+1G>A;NM_001242876:exon1:c.138+1G>A;NM_018255:exon1:c.138+1G>A;NM_001242878:exon1:c.138+1G>A;NM_001242877:exon1:c.138+1G>A;NM_001242879:exon1:c.138+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon1:c.138+1G>A;ENST00000544267:exon1:c.138+1G>A;ENST00000351393:exon1:c.138+1G>A;ENST00000545632:exon1:c.138+1G>A;ENST00000442325:exon1:c.138+1G>A;ENST00000423854:exon1:c.138+1G>A;ENST00000539560:exon1:c.138+1G>A;ENST00000542430:exon1:c.138+1G>A;ENST00000350494:exon1:c.138+1G>A;ENST00000542824:exon1:c.138+1G>A;ENST00000540799:exon1:c.138+1G>A)	.	.	0.999938422912956	0.928
18	33710035	G	C	18	36130072	y	y	splicing	ELP2(NM_001242875:exon1:c.138+1G>C;NM_001242876:exon1:c.138+1G>C;NM_018255:exon1:c.138+1G>C;NM_001242878:exon1:c.138+1G>C;NM_001242877:exon1:c.138+1G>C;NM_001242879:exon1:c.138+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon1:c.138+1G>C;ENST00000544267:exon1:c.138+1G>C;ENST00000351393:exon1:c.138+1G>C;ENST00000545632:exon1:c.138+1G>C;ENST00000442325:exon1:c.138+1G>C;ENST00000423854:exon1:c.138+1G>C;ENST00000539560:exon1:c.138+1G>C;ENST00000542430:exon1:c.138+1G>C;ENST00000350494:exon1:c.138+1G>C;ENST00000542824:exon1:c.138+1G>C;ENST00000540799:exon1:c.138+1G>C)	.	.	0.999938422912956	0.93
18	33710035	G	T	18	36130072	y	y	splicing	ELP2(NM_001242875:exon1:c.138+1G>T;NM_001242876:exon1:c.138+1G>T;NM_018255:exon1:c.138+1G>T;NM_001242878:exon1:c.138+1G>T;NM_001242877:exon1:c.138+1G>T;NM_001242879:exon1:c.138+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon1:c.138+1G>T;ENST00000544267:exon1:c.138+1G>T;ENST00000351393:exon1:c.138+1G>T;ENST00000545632:exon1:c.138+1G>T;ENST00000442325:exon1:c.138+1G>T;ENST00000423854:exon1:c.138+1G>T;ENST00000539560:exon1:c.138+1G>T;ENST00000542430:exon1:c.138+1G>T;ENST00000350494:exon1:c.138+1G>T;ENST00000542824:exon1:c.138+1G>T;ENST00000540799:exon1:c.138+1G>T)	.	.	0.999938422912956	0.93
18	33710036	T	A	18	36130073	y	y	splicing	ELP2(NM_001242875:exon1:c.138+2T>A;NM_001242876:exon1:c.138+2T>A;NM_018255:exon1:c.138+2T>A;NM_001242878:exon1:c.138+2T>A;NM_001242877:exon1:c.138+2T>A;NM_001242879:exon1:c.138+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon1:c.138+2T>A;ENST00000544267:exon1:c.138+2T>A;ENST00000351393:exon1:c.138+2T>A;ENST00000545632:exon1:c.138+2T>A;ENST00000442325:exon1:c.138+2T>A;ENST00000423854:exon1:c.138+2T>A;ENST00000539560:exon1:c.138+2T>A;ENST00000542430:exon1:c.138+2T>A;ENST00000350494:exon1:c.138+2T>A;ENST00000542824:exon1:c.138+2T>A;ENST00000540799:exon1:c.138+2T>A)	.	.	0.99994568797423	0.928
18	33710036	T	C	18	36130073	y	y	splicing	ELP2(NM_001242875:exon1:c.138+2T>C;NM_001242876:exon1:c.138+2T>C;NM_018255:exon1:c.138+2T>C;NM_001242878:exon1:c.138+2T>C;NM_001242877:exon1:c.138+2T>C;NM_001242879:exon1:c.138+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon1:c.138+2T>C;ENST00000544267:exon1:c.138+2T>C;ENST00000351393:exon1:c.138+2T>C;ENST00000545632:exon1:c.138+2T>C;ENST00000442325:exon1:c.138+2T>C;ENST00000423854:exon1:c.138+2T>C;ENST00000539560:exon1:c.138+2T>C;ENST00000542430:exon1:c.138+2T>C;ENST00000350494:exon1:c.138+2T>C;ENST00000542824:exon1:c.138+2T>C;ENST00000540799:exon1:c.138+2T>C)	.	.	0.999604035398332	0.904
18	33710036	T	G	18	36130073	y	y	splicing	ELP2(NM_001242875:exon1:c.138+2T>G;NM_001242876:exon1:c.138+2T>G;NM_018255:exon1:c.138+2T>G;NM_001242878:exon1:c.138+2T>G;NM_001242877:exon1:c.138+2T>G;NM_001242879:exon1:c.138+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon1:c.138+2T>G;ENST00000544267:exon1:c.138+2T>G;ENST00000351393:exon1:c.138+2T>G;ENST00000545632:exon1:c.138+2T>G;ENST00000442325:exon1:c.138+2T>G;ENST00000423854:exon1:c.138+2T>G;ENST00000539560:exon1:c.138+2T>G;ENST00000542430:exon1:c.138+2T>G;ENST00000350494:exon1:c.138+2T>G;ENST00000542824:exon1:c.138+2T>G;ENST00000540799:exon1:c.138+2T>G)	.	.	0.99994568797423	0.93
18	33710037	A	C	18	36130074	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.977303082200621	0.804
18	33710037	A	G	18	36130074	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.010877442787336	0.194
18	33710037	A	T	18	36130074	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.992499046911385	0.804
18	33710038	A	C	18	36130075	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.52241311147242	0.338
18	33710038	A	G	18	36130075	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.562387070330345	0.556
18	33710038	A	T	18	36130075	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.544517162908732	0.52
18	33710039	G	A	18	36130076	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99919244424129	0.79
18	33710039	G	C	18	36130076	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998726533025147	0.838
18	33710039	G	T	18	36130076	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997298298193943	0.618
18	33710040	A	C	18	36130077	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.52314028971092E-5	0.01
18	33710040	A	G	18	36130077	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.52314028971092E-5	0.002
18	33710040	A	T	18	36130077	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.41795582985821E-4	0.002
18	33710041	G	A	18	36130078	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00427853097876465	0.018
18	33710041	G	C	18	36130078	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00244072175420483	0.014
18	33710041	G	T	18	36130078	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00308233977336722	0.024
18	33710042	A	C	18	36130079	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.03514948879293E-5	0.004
18	33710042	A	G	18	36130079	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.70317586460434E-5	0.004
18	33710042	A	T	18	36130079	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.03514948879293E-5	0.01
18	33713189	T	A	18	36133226	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.982933263756694	0.64
18	33713189	T	C	18	36133226	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.537157172712992	0.472
18	33713189	T	G	18	36133226	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.979313511715554	0.588
18	33713190	C	A	18	36133227	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.185020737310532	0.344
18	33713190	C	G	18	36133227	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0457477927219614	0.252
18	33713190	C	T	18	36133227	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0385800479279303	0.362
18	33713191	T	A	18	36133228	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.145181371798851	0.206
18	33713191	T	C	18	36133228	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00403724533875498	0.102
18	33713191	T	G	18	36133228	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.149432524413909	0.186
18	33713192	T	A	18	36133229	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.849646221674867	0.438
18	33713192	T	C	18	36133229	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.033673304017306	0.162
18	33713192	T	G	18	36133229	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.537711184010014	0.396
18	33713193	C	A	18	36133230	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.907609210641E-4	0.084
18	33713193	C	G	18	36133230	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00139642392818946	0.146
18	33713193	C	T	18	36133230	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.82718895488407E-5	0.002
18	33713194	T	A	18	36133231	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.371145626217106	0.134
18	33713194	T	C	18	36133231	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.39947971832412E-4	0.044
18	33713194	T	G	18	36133231	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.422568935008734	0.17
18	33713195	C	A	18	36133232	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.86664767349487E-4	0.106
18	33713195	C	G	18	36133232	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.51746190054226E-4	0.134
18	33713195	C	T	18	36133232	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.77799744437468E-5	0.0
18	33713196	T	A	18	36133233	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.886437945375661	0.568
18	33713196	T	C	18	36133233	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0507561261656397	0.212
18	33713196	T	G	18	36133233	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.804742508423218	0.578
18	33713197	A	C	18	36133234	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.12340125674042E-4	0.0
18	33713197	A	G	18	36133234	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.49822832816519E-5	0.014
18	33713197	A	T	18	36133234	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.46315075931949E-5	0.01
18	33713198	A	C	18	36133235	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.11550629419215E-4	0.048
18	33713198	A	G	18	36133235	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.87264864447525	0.522
18	33713198	A	T	18	36133235	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.62591877357273E-4	0.024
18	33713199	A	C	18	36133236	y	y	splicing	ELP2(NM_001242875:exon2:c.139-2A>C;NM_001242876:exon2:c.139-2A>C;NM_018255:exon2:c.139-2A>C;NM_001242878:exon2:c.139-2A>C;NM_001242877:exon2:c.139-2A>C;NM_001242879:exon2:c.139-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.139-2A>C;ENST00000351393:exon2:c.139-2A>C;ENST00000442325:exon2:c.139-2A>C;ENST00000423854:exon2:c.139-2A>C;ENST00000539560:exon2:c.139-2A>C;ENST00000542430:exon2:c.139-2A>C;ENST00000350494:exon2:c.139-2A>C;ENST00000542824:exon2:c.139-2A>C;ENST00000540799:exon2:c.139-2A>C)	.	.	0.999988247793601	0.93
18	33713199	A	G	18	36133236	y	y	splicing	ELP2(NM_001242875:exon2:c.139-2A>G;NM_001242876:exon2:c.139-2A>G;NM_018255:exon2:c.139-2A>G;NM_001242878:exon2:c.139-2A>G;NM_001242877:exon2:c.139-2A>G;NM_001242879:exon2:c.139-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.139-2A>G;ENST00000351393:exon2:c.139-2A>G;ENST00000442325:exon2:c.139-2A>G;ENST00000423854:exon2:c.139-2A>G;ENST00000539560:exon2:c.139-2A>G;ENST00000542430:exon2:c.139-2A>G;ENST00000350494:exon2:c.139-2A>G;ENST00000542824:exon2:c.139-2A>G;ENST00000540799:exon2:c.139-2A>G)	.	.	0.999988247793601	0.93
18	33713199	A	T	18	36133236	y	y	splicing	ELP2(NM_001242875:exon2:c.139-2A>T;NM_001242876:exon2:c.139-2A>T;NM_018255:exon2:c.139-2A>T;NM_001242878:exon2:c.139-2A>T;NM_001242877:exon2:c.139-2A>T;NM_001242879:exon2:c.139-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.139-2A>T;ENST00000351393:exon2:c.139-2A>T;ENST00000442325:exon2:c.139-2A>T;ENST00000423854:exon2:c.139-2A>T;ENST00000539560:exon2:c.139-2A>T;ENST00000542430:exon2:c.139-2A>T;ENST00000350494:exon2:c.139-2A>T;ENST00000542824:exon2:c.139-2A>T;ENST00000540799:exon2:c.139-2A>T)	.	.	0.999988247793601	0.932
18	33713200	G	A	18	36133237	y	y	splicing	ELP2(NM_001242875:exon2:c.139-1G>A;NM_001242876:exon2:c.139-1G>A;NM_018255:exon2:c.139-1G>A;NM_001242878:exon2:c.139-1G>A;NM_001242877:exon2:c.139-1G>A;NM_001242879:exon2:c.139-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.139-1G>A;ENST00000351393:exon2:c.139-1G>A;ENST00000442325:exon2:c.139-1G>A;ENST00000423854:exon2:c.139-1G>A;ENST00000539560:exon2:c.139-1G>A;ENST00000542430:exon2:c.139-1G>A;ENST00000350494:exon2:c.139-1G>A;ENST00000542824:exon2:c.139-1G>A;ENST00000540799:exon2:c.139-1G>A)	.	.	0.999990361384395	0.938
18	33713200	G	C	18	36133237	y	y	splicing	ELP2(NM_001242875:exon2:c.139-1G>C;NM_001242876:exon2:c.139-1G>C;NM_018255:exon2:c.139-1G>C;NM_001242878:exon2:c.139-1G>C;NM_001242877:exon2:c.139-1G>C;NM_001242879:exon2:c.139-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.139-1G>C;ENST00000351393:exon2:c.139-1G>C;ENST00000442325:exon2:c.139-1G>C;ENST00000423854:exon2:c.139-1G>C;ENST00000539560:exon2:c.139-1G>C;ENST00000542430:exon2:c.139-1G>C;ENST00000350494:exon2:c.139-1G>C;ENST00000542824:exon2:c.139-1G>C;ENST00000540799:exon2:c.139-1G>C)	.	.	0.999990361384395	0.936
18	33713200	G	T	18	36133237	y	y	splicing	ELP2(NM_001242875:exon2:c.139-1G>T;NM_001242876:exon2:c.139-1G>T;NM_018255:exon2:c.139-1G>T;NM_001242878:exon2:c.139-1G>T;NM_001242877:exon2:c.139-1G>T;NM_001242879:exon2:c.139-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.139-1G>T;ENST00000351393:exon2:c.139-1G>T;ENST00000442325:exon2:c.139-1G>T;ENST00000423854:exon2:c.139-1G>T;ENST00000539560:exon2:c.139-1G>T;ENST00000542430:exon2:c.139-1G>T;ENST00000350494:exon2:c.139-1G>T;ENST00000542824:exon2:c.139-1G>T;ENST00000540799:exon2:c.139-1G>T)	.	.	0.999990361384395	0.938
18	33713201	A	C	18	36133238	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.A139C:p.K47Q;ELP2:NM_001242875:exon2:c.A139C:p.K47Q;ELP2:NM_001242878:exon2:c.A139C:p.K47Q;ELP2:NM_018255:exon2:c.A139C:p.K47Q;ELP2:NM_001242876:exon2:c.A139C:p.K47Q;ELP2:NM_001242877:exon2:c.A139C:p.K47Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.A139C:p.K47Q;ENSG00000134759:ENST00000540799:exon2:c.A139C:p.K47Q;ENSG00000134759:ENST00000542824:exon2:c.A139C:p.K47Q;ENSG00000134759:ENST00000351393:exon2:c.A139C:p.K47Q;ENSG00000134759:ENST00000442325:exon2:c.A139C:p.K47Q;ENSG00000134759:ENST00000350494:exon2:c.A139C:p.K47Q;ENSG00000134759:ENST00000423854:exon2:c.A139C:p.K47Q;ENSG00000134759:ENST00000358232:exon2:c.A139C:p.K47Q;ENSG00000134759:ENST00000539560:exon2:c.A139C:p.K47Q;	0.00373799394970796	0.122
18	33713201	A	G	18	36133238	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.A139G:p.K47E;ELP2:NM_001242875:exon2:c.A139G:p.K47E;ELP2:NM_001242878:exon2:c.A139G:p.K47E;ELP2:NM_018255:exon2:c.A139G:p.K47E;ELP2:NM_001242876:exon2:c.A139G:p.K47E;ELP2:NM_001242877:exon2:c.A139G:p.K47E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.A139G:p.K47E;ENSG00000134759:ENST00000540799:exon2:c.A139G:p.K47E;ENSG00000134759:ENST00000542824:exon2:c.A139G:p.K47E;ENSG00000134759:ENST00000351393:exon2:c.A139G:p.K47E;ENSG00000134759:ENST00000442325:exon2:c.A139G:p.K47E;ENSG00000134759:ENST00000350494:exon2:c.A139G:p.K47E;ENSG00000134759:ENST00000423854:exon2:c.A139G:p.K47E;ENSG00000134759:ENST00000358232:exon2:c.A139G:p.K47E;ENSG00000134759:ENST00000539560:exon2:c.A139G:p.K47E;	6.24428090487207E-5	0.046
18	33713201	A	T	18	36133238	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon2:c.A139T:p.K47X;ELP2:NM_001242875:exon2:c.A139T:p.K47X;ELP2:NM_001242878:exon2:c.A139T:p.K47X;ELP2:NM_018255:exon2:c.A139T:p.K47X;ELP2:NM_001242876:exon2:c.A139T:p.K47X;ELP2:NM_001242877:exon2:c.A139T:p.K47X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542430:exon2:c.A139T:p.K47X;ENSG00000134759:ENST00000540799:exon2:c.A139T:p.K47X;ENSG00000134759:ENST00000542824:exon2:c.A139T:p.K47X;ENSG00000134759:ENST00000351393:exon2:c.A139T:p.K47X;ENSG00000134759:ENST00000442325:exon2:c.A139T:p.K47X;ENSG00000134759:ENST00000350494:exon2:c.A139T:p.K47X;ENSG00000134759:ENST00000423854:exon2:c.A139T:p.K47X;ENSG00000134759:ENST00000358232:exon2:c.A139T:p.K47X;ENSG00000134759:ENST00000539560:exon2:c.A139T:p.K47X;	0.146173156499879	0.272
18	33713202	A	C	18	36133239	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.A140C:p.K47T;ELP2:NM_001242875:exon2:c.A140C:p.K47T;ELP2:NM_001242878:exon2:c.A140C:p.K47T;ELP2:NM_018255:exon2:c.A140C:p.K47T;ELP2:NM_001242876:exon2:c.A140C:p.K47T;ELP2:NM_001242877:exon2:c.A140C:p.K47T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.A140C:p.K47T;ENSG00000134759:ENST00000540799:exon2:c.A140C:p.K47T;ENSG00000134759:ENST00000542824:exon2:c.A140C:p.K47T;ENSG00000134759:ENST00000351393:exon2:c.A140C:p.K47T;ENSG00000134759:ENST00000442325:exon2:c.A140C:p.K47T;ENSG00000134759:ENST00000350494:exon2:c.A140C:p.K47T;ENSG00000134759:ENST00000423854:exon2:c.A140C:p.K47T;ENSG00000134759:ENST00000358232:exon2:c.A140C:p.K47T;ENSG00000134759:ENST00000539560:exon2:c.A140C:p.K47T;	0.00512368997818441	0.054
18	33713202	A	G	18	36133239	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.A140G:p.K47R;ELP2:NM_001242875:exon2:c.A140G:p.K47R;ELP2:NM_001242878:exon2:c.A140G:p.K47R;ELP2:NM_018255:exon2:c.A140G:p.K47R;ELP2:NM_001242876:exon2:c.A140G:p.K47R;ELP2:NM_001242877:exon2:c.A140G:p.K47R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.A140G:p.K47R;ENSG00000134759:ENST00000540799:exon2:c.A140G:p.K47R;ENSG00000134759:ENST00000542824:exon2:c.A140G:p.K47R;ENSG00000134759:ENST00000351393:exon2:c.A140G:p.K47R;ENSG00000134759:ENST00000442325:exon2:c.A140G:p.K47R;ENSG00000134759:ENST00000350494:exon2:c.A140G:p.K47R;ENSG00000134759:ENST00000423854:exon2:c.A140G:p.K47R;ENSG00000134759:ENST00000358232:exon2:c.A140G:p.K47R;ENSG00000134759:ENST00000539560:exon2:c.A140G:p.K47R;	0.0143477020406687	0.068
18	33713202	A	T	18	36133239	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.A140T:p.K47I;ELP2:NM_001242875:exon2:c.A140T:p.K47I;ELP2:NM_001242878:exon2:c.A140T:p.K47I;ELP2:NM_018255:exon2:c.A140T:p.K47I;ELP2:NM_001242876:exon2:c.A140T:p.K47I;ELP2:NM_001242877:exon2:c.A140T:p.K47I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.A140T:p.K47I;ENSG00000134759:ENST00000540799:exon2:c.A140T:p.K47I;ENSG00000134759:ENST00000542824:exon2:c.A140T:p.K47I;ENSG00000134759:ENST00000351393:exon2:c.A140T:p.K47I;ENSG00000134759:ENST00000442325:exon2:c.A140T:p.K47I;ENSG00000134759:ENST00000350494:exon2:c.A140T:p.K47I;ENSG00000134759:ENST00000423854:exon2:c.A140T:p.K47I;ENSG00000134759:ENST00000358232:exon2:c.A140T:p.K47I;ENSG00000134759:ENST00000539560:exon2:c.A140T:p.K47I;	0.00839016197832136	0.048
18	33713277	G	A	18	36133314	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.G215A:p.G72D;ELP2:NM_001242875:exon2:c.G215A:p.G72D;ELP2:NM_001242878:exon2:c.G215A:p.G72D;ELP2:NM_018255:exon2:c.G215A:p.G72D;ELP2:NM_001242876:exon2:c.G215A:p.G72D;ELP2:NM_001242877:exon2:c.G215A:p.G72D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.G215A:p.G72D;ENSG00000134759:ENST00000540799:exon2:c.G215A:p.G72D;ENSG00000134759:ENST00000542824:exon2:c.G215A:p.G72D;ENSG00000134759:ENST00000351393:exon2:c.G215A:p.G72D;ENSG00000134759:ENST00000442325:exon2:c.G215A:p.G72D;ENSG00000134759:ENST00000350494:exon2:c.G215A:p.G72D;ENSG00000134759:ENST00000423854:exon2:c.G215A:p.G72D;ENSG00000134759:ENST00000358232:exon2:c.G215A:p.G72D;ENSG00000134759:ENST00000539560:exon2:c.G215A:p.G72D;	0.00459402811679446	0.09
18	33713277	G	C	18	36133314	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.G215C:p.G72A;ELP2:NM_001242875:exon2:c.G215C:p.G72A;ELP2:NM_001242878:exon2:c.G215C:p.G72A;ELP2:NM_018255:exon2:c.G215C:p.G72A;ELP2:NM_001242876:exon2:c.G215C:p.G72A;ELP2:NM_001242877:exon2:c.G215C:p.G72A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.G215C:p.G72A;ENSG00000134759:ENST00000540799:exon2:c.G215C:p.G72A;ENSG00000134759:ENST00000542824:exon2:c.G215C:p.G72A;ENSG00000134759:ENST00000351393:exon2:c.G215C:p.G72A;ENSG00000134759:ENST00000442325:exon2:c.G215C:p.G72A;ENSG00000134759:ENST00000350494:exon2:c.G215C:p.G72A;ENSG00000134759:ENST00000423854:exon2:c.G215C:p.G72A;ENSG00000134759:ENST00000358232:exon2:c.G215C:p.G72A;ENSG00000134759:ENST00000539560:exon2:c.G215C:p.G72A;	7.2014257769989E-4	0.08
18	33713277	G	T	18	36133314	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.G215T:p.G72V;ELP2:NM_001242875:exon2:c.G215T:p.G72V;ELP2:NM_001242878:exon2:c.G215T:p.G72V;ELP2:NM_018255:exon2:c.G215T:p.G72V;ELP2:NM_001242876:exon2:c.G215T:p.G72V;ELP2:NM_001242877:exon2:c.G215T:p.G72V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.G215T:p.G72V;ENSG00000134759:ENST00000540799:exon2:c.G215T:p.G72V;ENSG00000134759:ENST00000542824:exon2:c.G215T:p.G72V;ENSG00000134759:ENST00000351393:exon2:c.G215T:p.G72V;ENSG00000134759:ENST00000442325:exon2:c.G215T:p.G72V;ENSG00000134759:ENST00000350494:exon2:c.G215T:p.G72V;ENSG00000134759:ENST00000423854:exon2:c.G215T:p.G72V;ENSG00000134759:ENST00000358232:exon2:c.G215T:p.G72V;ENSG00000134759:ENST00000539560:exon2:c.G215T:p.G72V;	0.947672307210456	0.72
18	33713278	C	A	18	36133315	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon2:c.C216A:p.G72G;ELP2:NM_001242875:exon2:c.C216A:p.G72G;ELP2:NM_001242878:exon2:c.C216A:p.G72G;ELP2:NM_018255:exon2:c.C216A:p.G72G;ELP2:NM_001242876:exon2:c.C216A:p.G72G;ELP2:NM_001242877:exon2:c.C216A:p.G72G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.C216A:p.G72G;ENSG00000134759:ENST00000540799:exon2:c.C216A:p.G72G;ENSG00000134759:ENST00000542824:exon2:c.C216A:p.G72G;ENSG00000134759:ENST00000351393:exon2:c.C216A:p.G72G;ENSG00000134759:ENST00000442325:exon2:c.C216A:p.G72G;ENSG00000134759:ENST00000350494:exon2:c.C216A:p.G72G;ENSG00000134759:ENST00000423854:exon2:c.C216A:p.G72G;ENSG00000134759:ENST00000358232:exon2:c.C216A:p.G72G;ENSG00000134759:ENST00000539560:exon2:c.C216A:p.G72G;	5.87865157096133E-4	0.146
18	33713278	C	G	18	36133315	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon2:c.C216G:p.G72G;ELP2:NM_001242875:exon2:c.C216G:p.G72G;ELP2:NM_001242878:exon2:c.C216G:p.G72G;ELP2:NM_018255:exon2:c.C216G:p.G72G;ELP2:NM_001242876:exon2:c.C216G:p.G72G;ELP2:NM_001242877:exon2:c.C216G:p.G72G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.C216G:p.G72G;ENSG00000134759:ENST00000540799:exon2:c.C216G:p.G72G;ENSG00000134759:ENST00000542824:exon2:c.C216G:p.G72G;ENSG00000134759:ENST00000351393:exon2:c.C216G:p.G72G;ENSG00000134759:ENST00000442325:exon2:c.C216G:p.G72G;ENSG00000134759:ENST00000350494:exon2:c.C216G:p.G72G;ENSG00000134759:ENST00000423854:exon2:c.C216G:p.G72G;ENSG00000134759:ENST00000358232:exon2:c.C216G:p.G72G;ENSG00000134759:ENST00000539560:exon2:c.C216G:p.G72G;	0.00204305821281352	0.058
18	33713278	C	T	18	36133315	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon2:c.C216T:p.G72G;ELP2:NM_001242875:exon2:c.C216T:p.G72G;ELP2:NM_001242878:exon2:c.C216T:p.G72G;ELP2:NM_018255:exon2:c.C216T:p.G72G;ELP2:NM_001242876:exon2:c.C216T:p.G72G;ELP2:NM_001242877:exon2:c.C216T:p.G72G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.C216T:p.G72G;ENSG00000134759:ENST00000540799:exon2:c.C216T:p.G72G;ENSG00000134759:ENST00000542824:exon2:c.C216T:p.G72G;ENSG00000134759:ENST00000351393:exon2:c.C216T:p.G72G;ENSG00000134759:ENST00000442325:exon2:c.C216T:p.G72G;ENSG00000134759:ENST00000350494:exon2:c.C216T:p.G72G;ENSG00000134759:ENST00000423854:exon2:c.C216T:p.G72G;ENSG00000134759:ENST00000358232:exon2:c.C216T:p.G72G;ENSG00000134759:ENST00000539560:exon2:c.C216T:p.G72G;	0.00435292039356831	0.056
18	33713279	T	A	18	36133316	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.T217A:p.S73T;ELP2:NM_001242875:exon2:c.T217A:p.S73T;ELP2:NM_001242878:exon2:c.T217A:p.S73T;ELP2:NM_018255:exon2:c.T217A:p.S73T;ELP2:NM_001242876:exon2:c.T217A:p.S73T;ELP2:NM_001242877:exon2:c.T217A:p.S73T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.T217A:p.S73T;ENSG00000134759:ENST00000540799:exon2:c.T217A:p.S73T;ENSG00000134759:ENST00000542824:exon2:c.T217A:p.S73T;ENSG00000134759:ENST00000351393:exon2:c.T217A:p.S73T;ENSG00000134759:ENST00000442325:exon2:c.T217A:p.S73T;ENSG00000134759:ENST00000350494:exon2:c.T217A:p.S73T;ENSG00000134759:ENST00000423854:exon2:c.T217A:p.S73T;ENSG00000134759:ENST00000358232:exon2:c.T217A:p.S73T;ENSG00000134759:ENST00000539560:exon2:c.T217A:p.S73T;	0.307810755783297	0.526
18	33713279	T	C	18	36133316	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.T217C:p.S73P;ELP2:NM_001242875:exon2:c.T217C:p.S73P;ELP2:NM_001242878:exon2:c.T217C:p.S73P;ELP2:NM_018255:exon2:c.T217C:p.S73P;ELP2:NM_001242876:exon2:c.T217C:p.S73P;ELP2:NM_001242877:exon2:c.T217C:p.S73P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.T217C:p.S73P;ENSG00000134759:ENST00000540799:exon2:c.T217C:p.S73P;ENSG00000134759:ENST00000542824:exon2:c.T217C:p.S73P;ENSG00000134759:ENST00000351393:exon2:c.T217C:p.S73P;ENSG00000134759:ENST00000442325:exon2:c.T217C:p.S73P;ENSG00000134759:ENST00000350494:exon2:c.T217C:p.S73P;ENSG00000134759:ENST00000423854:exon2:c.T217C:p.S73P;ENSG00000134759:ENST00000358232:exon2:c.T217C:p.S73P;ENSG00000134759:ENST00000539560:exon2:c.T217C:p.S73P;	0.972327080605544	0.864
18	33713279	T	G	18	36133316	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon2:c.T217G:p.S73A;ELP2:NM_001242875:exon2:c.T217G:p.S73A;ELP2:NM_001242878:exon2:c.T217G:p.S73A;ELP2:NM_018255:exon2:c.T217G:p.S73A;ELP2:NM_001242876:exon2:c.T217G:p.S73A;ELP2:NM_001242877:exon2:c.T217G:p.S73A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon2:c.T217G:p.S73A;ENSG00000134759:ENST00000540799:exon2:c.T217G:p.S73A;ENSG00000134759:ENST00000542824:exon2:c.T217G:p.S73A;ENSG00000134759:ENST00000351393:exon2:c.T217G:p.S73A;ENSG00000134759:ENST00000442325:exon2:c.T217G:p.S73A;ENSG00000134759:ENST00000350494:exon2:c.T217G:p.S73A;ENSG00000134759:ENST00000423854:exon2:c.T217G:p.S73A;ENSG00000134759:ENST00000358232:exon2:c.T217G:p.S73A;ENSG00000134759:ENST00000539560:exon2:c.T217G:p.S73A;	0.00697744160039144	0.084
18	33713280	G	A	18	36133317	y	y	splicing	ELP2(NM_001242875:exon2:c.217+1G>A;NM_001242876:exon2:c.217+1G>A;NM_018255:exon2:c.217+1G>A;NM_001242878:exon2:c.217+1G>A;NM_001242877:exon2:c.217+1G>A;NM_001242879:exon2:c.217+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.217+1G>A;ENST00000351393:exon2:c.217+1G>A;ENST00000442325:exon2:c.217+1G>A;ENST00000423854:exon2:c.217+1G>A;ENST00000539560:exon2:c.217+1G>A;ENST00000542430:exon2:c.217+1G>A;ENST00000350494:exon2:c.217+1G>A;ENST00000542824:exon2:c.217+1G>A;ENST00000540799:exon2:c.217+1G>A)	.	.	0.999985532734767	0.936
18	33713280	G	C	18	36133317	y	y	splicing	ELP2(NM_001242875:exon2:c.217+1G>C;NM_001242876:exon2:c.217+1G>C;NM_018255:exon2:c.217+1G>C;NM_001242878:exon2:c.217+1G>C;NM_001242877:exon2:c.217+1G>C;NM_001242879:exon2:c.217+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.217+1G>C;ENST00000351393:exon2:c.217+1G>C;ENST00000442325:exon2:c.217+1G>C;ENST00000423854:exon2:c.217+1G>C;ENST00000539560:exon2:c.217+1G>C;ENST00000542430:exon2:c.217+1G>C;ENST00000350494:exon2:c.217+1G>C;ENST00000542824:exon2:c.217+1G>C;ENST00000540799:exon2:c.217+1G>C)	.	.	0.999985532734767	0.936
18	33713280	G	T	18	36133317	y	y	splicing	ELP2(NM_001242875:exon2:c.217+1G>T;NM_001242876:exon2:c.217+1G>T;NM_018255:exon2:c.217+1G>T;NM_001242878:exon2:c.217+1G>T;NM_001242877:exon2:c.217+1G>T;NM_001242879:exon2:c.217+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.217+1G>T;ENST00000351393:exon2:c.217+1G>T;ENST00000442325:exon2:c.217+1G>T;ENST00000423854:exon2:c.217+1G>T;ENST00000539560:exon2:c.217+1G>T;ENST00000542430:exon2:c.217+1G>T;ENST00000350494:exon2:c.217+1G>T;ENST00000542824:exon2:c.217+1G>T;ENST00000540799:exon2:c.217+1G>T)	.	.	0.999985532734767	0.936
18	33713281	T	A	18	36133318	y	y	splicing	ELP2(NM_001242875:exon2:c.217+2T>A;NM_001242876:exon2:c.217+2T>A;NM_018255:exon2:c.217+2T>A;NM_001242878:exon2:c.217+2T>A;NM_001242877:exon2:c.217+2T>A;NM_001242879:exon2:c.217+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.217+2T>A;ENST00000351393:exon2:c.217+2T>A;ENST00000442325:exon2:c.217+2T>A;ENST00000423854:exon2:c.217+2T>A;ENST00000539560:exon2:c.217+2T>A;ENST00000542430:exon2:c.217+2T>A;ENST00000350494:exon2:c.217+2T>A;ENST00000542824:exon2:c.217+2T>A;ENST00000540799:exon2:c.217+2T>A)	.	.	0.999988247793601	0.928
18	33713281	T	C	18	36133318	y	y	splicing	ELP2(NM_001242875:exon2:c.217+2T>C;NM_001242876:exon2:c.217+2T>C;NM_018255:exon2:c.217+2T>C;NM_001242878:exon2:c.217+2T>C;NM_001242877:exon2:c.217+2T>C;NM_001242879:exon2:c.217+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.217+2T>C;ENST00000351393:exon2:c.217+2T>C;ENST00000442325:exon2:c.217+2T>C;ENST00000423854:exon2:c.217+2T>C;ENST00000539560:exon2:c.217+2T>C;ENST00000542430:exon2:c.217+2T>C;ENST00000350494:exon2:c.217+2T>C;ENST00000542824:exon2:c.217+2T>C;ENST00000540799:exon2:c.217+2T>C)	.	.	0.99340600729494	0.624
18	33713281	T	G	18	36133318	y	y	splicing	ELP2(NM_001242875:exon2:c.217+2T>G;NM_001242876:exon2:c.217+2T>G;NM_018255:exon2:c.217+2T>G;NM_001242878:exon2:c.217+2T>G;NM_001242877:exon2:c.217+2T>G;NM_001242879:exon2:c.217+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon2:c.217+2T>G;ENST00000351393:exon2:c.217+2T>G;ENST00000442325:exon2:c.217+2T>G;ENST00000423854:exon2:c.217+2T>G;ENST00000539560:exon2:c.217+2T>G;ENST00000542430:exon2:c.217+2T>G;ENST00000350494:exon2:c.217+2T>G;ENST00000542824:exon2:c.217+2T>G;ENST00000540799:exon2:c.217+2T>G)	.	.	0.999988247793601	0.928
18	33713282	A	C	18	36133319	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999900515034895	0.936
18	33713282	A	G	18	36133319	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.391996510994343	0.356
18	33713282	A	T	18	36133319	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99991224621344	0.966
18	33713283	A	C	18	36133320	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999053944816852	0.916
18	33713283	A	G	18	36133320	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998134952490495	0.918
18	33713283	A	T	18	36133320	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997671216343133	0.952
18	33713284	G	A	18	36133321	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999965845723167	1.0
18	33713284	G	C	18	36133321	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999836036418038	0.882
18	33713284	G	T	18	36133321	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999946525426805	0.98
18	33713285	T	A	18	36133322	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995173865627665	0.822
18	33713285	T	C	18	36133322	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999001354756192	0.986
18	33713285	T	G	18	36133322	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998590447751273	0.946
18	33713286	A	C	18	36133323	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0244632364584291	0.048
18	33713286	A	G	18	36133323	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0106702264344397	0.04
18	33713286	A	T	18	36133323	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0244632364584291	0.102
18	33713287	T	A	18	36133324	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00338194015849531	0.02
18	33713287	T	C	18	36133324	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00658354527176926	0.042
18	33713287	T	G	18	36133324	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00658354527176926	0.042
18	33716258	A	C	18	36136295	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.28500301026007E-5	0.002
18	33716258	A	G	18	36136295	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.82028948203469E-4	0.008
18	33716258	A	T	18	36136295	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.81102572456894E-5	0.03
18	33716259	A	C	18	36136296	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.96144542049161E-4	0.0
18	33716259	A	G	18	36136296	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998545206111544	0.966
18	33716259	A	T	18	36136296	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00110198524067368	0.122
18	33716260	T	A	18	36136297	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.970179494365107	0.586
18	33716260	T	C	18	36136297	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0250824912748227	0.188
18	33716260	T	G	18	36136297	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999773176018769	0.964
18	33716261	T	A	18	36136298	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.659534394506679	0.498
18	33716261	T	C	18	36136298	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.82148271216588E-4	0.086
18	33716261	T	G	18	36136298	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.261351536096382	0.448
18	33716262	T	A	18	36136299	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.327976778735064	0.688
18	33716262	T	C	18	36136299	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.02834888094394E-4	0.136
18	33716262	T	G	18	36136299	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0375251907213167	0.504
18	33716263	T	A	18	36136300	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.014706016237474	0.2
18	33716263	T	C	18	36136300	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.5731545008615E-4	0.136
18	33716263	T	G	18	36136300	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0358729112078573	0.198
18	33716264	T	A	18	36136301	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.992886896959015	0.702
18	33716264	T	C	18	36136301	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0115666069826812	0.128
18	33716264	T	G	18	36136301	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.973172285899555	0.684
18	33716265	T	A	18	36136302	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.990043793960717	0.858
18	33716265	T	C	18	36136302	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.231306061797174	0.212
18	33716265	T	G	18	36136302	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999707687385905	0.866
18	33716266	T	A	18	36136303	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00119718180599538	0.004
18	33716266	T	C	18	36136303	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.01088553521807E-4	0.078
18	33716266	T	G	18	36136303	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.57105642299557E-4	0.024
18	33716267	C	A	18	36136304	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.984625457529805	0.842
18	33716267	C	G	18	36136304	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999756117146974	0.918
18	33716267	C	T	18	36136304	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00825428681782373	0.058
18	33716268	A	C	18	36136305	y	y	splicing	ELP2(NM_001242875:exon3:c.218-2A>C;NM_001242876:exon3:c.218-2A>C;NM_018255:exon3:c.218-2A>C;NM_001242878:exon3:c.218-2A>C;NM_001242877:exon3:c.218-2A>C;NM_001242879:exon3:c.218-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.218-2A>C;ENST00000544267:exon2:c.139-2A>C;ENST00000351393:exon3:c.218-2A>C;ENST00000545632:exon2:c.139-2A>C;ENST00000442325:exon3:c.218-2A>C;ENST00000423854:exon3:c.218-2A>C;ENST00000539560:exon3:c.218-2A>C;ENST00000542430:exon3:c.218-2A>C;ENST00000350494:exon3:c.218-2A>C;ENST00000542824:exon3:c.218-2A>C;ENST00000540799:exon3:c.218-2A>C)	.	.	0.999988624979899	0.944
18	33716268	A	G	18	36136305	y	y	splicing	ELP2(NM_001242875:exon3:c.218-2A>G;NM_001242876:exon3:c.218-2A>G;NM_018255:exon3:c.218-2A>G;NM_001242878:exon3:c.218-2A>G;NM_001242877:exon3:c.218-2A>G;NM_001242879:exon3:c.218-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.218-2A>G;ENST00000544267:exon2:c.139-2A>G;ENST00000351393:exon3:c.218-2A>G;ENST00000545632:exon2:c.139-2A>G;ENST00000442325:exon3:c.218-2A>G;ENST00000423854:exon3:c.218-2A>G;ENST00000539560:exon3:c.218-2A>G;ENST00000542430:exon3:c.218-2A>G;ENST00000350494:exon3:c.218-2A>G;ENST00000542824:exon3:c.218-2A>G;ENST00000540799:exon3:c.218-2A>G)	.	.	0.999988624979899	0.944
18	33716268	A	T	18	36136305	y	y	splicing	ELP2(NM_001242875:exon3:c.218-2A>T;NM_001242876:exon3:c.218-2A>T;NM_018255:exon3:c.218-2A>T;NM_001242878:exon3:c.218-2A>T;NM_001242877:exon3:c.218-2A>T;NM_001242879:exon3:c.218-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.218-2A>T;ENST00000544267:exon2:c.139-2A>T;ENST00000351393:exon3:c.218-2A>T;ENST00000545632:exon2:c.139-2A>T;ENST00000442325:exon3:c.218-2A>T;ENST00000423854:exon3:c.218-2A>T;ENST00000539560:exon3:c.218-2A>T;ENST00000542430:exon3:c.218-2A>T;ENST00000350494:exon3:c.218-2A>T;ENST00000542824:exon3:c.218-2A>T;ENST00000540799:exon3:c.218-2A>T)	.	.	0.999988624979899	0.944
18	33716269	G	A	18	36136306	y	y	splicing	ELP2(NM_001242875:exon3:c.218-1G>A;NM_001242876:exon3:c.218-1G>A;NM_018255:exon3:c.218-1G>A;NM_001242878:exon3:c.218-1G>A;NM_001242877:exon3:c.218-1G>A;NM_001242879:exon3:c.218-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.218-1G>A;ENST00000544267:exon2:c.139-1G>A;ENST00000351393:exon3:c.218-1G>A;ENST00000545632:exon2:c.139-1G>A;ENST00000442325:exon3:c.218-1G>A;ENST00000423854:exon3:c.218-1G>A;ENST00000539560:exon3:c.218-1G>A;ENST00000542430:exon3:c.218-1G>A;ENST00000350494:exon3:c.218-1G>A;ENST00000542824:exon3:c.218-1G>A;ENST00000540799:exon3:c.218-1G>A)	.	.	0.999979422316293	0.95
18	33716269	G	C	18	36136306	y	y	splicing	ELP2(NM_001242875:exon3:c.218-1G>C;NM_001242876:exon3:c.218-1G>C;NM_018255:exon3:c.218-1G>C;NM_001242878:exon3:c.218-1G>C;NM_001242877:exon3:c.218-1G>C;NM_001242879:exon3:c.218-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.218-1G>C;ENST00000544267:exon2:c.139-1G>C;ENST00000351393:exon3:c.218-1G>C;ENST00000545632:exon2:c.139-1G>C;ENST00000442325:exon3:c.218-1G>C;ENST00000423854:exon3:c.218-1G>C;ENST00000539560:exon3:c.218-1G>C;ENST00000542430:exon3:c.218-1G>C;ENST00000350494:exon3:c.218-1G>C;ENST00000542824:exon3:c.218-1G>C;ENST00000540799:exon3:c.218-1G>C)	.	.	0.999979422316293	0.95
18	33716269	G	T	18	36136306	y	y	splicing	ELP2(NM_001242875:exon3:c.218-1G>T;NM_001242876:exon3:c.218-1G>T;NM_018255:exon3:c.218-1G>T;NM_001242878:exon3:c.218-1G>T;NM_001242877:exon3:c.218-1G>T;NM_001242879:exon3:c.218-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.218-1G>T;ENST00000544267:exon2:c.139-1G>T;ENST00000351393:exon3:c.218-1G>T;ENST00000545632:exon2:c.139-1G>T;ENST00000442325:exon3:c.218-1G>T;ENST00000423854:exon3:c.218-1G>T;ENST00000539560:exon3:c.218-1G>T;ENST00000542430:exon3:c.218-1G>T;ENST00000350494:exon3:c.218-1G>T;ENST00000542824:exon3:c.218-1G>T;ENST00000540799:exon3:c.218-1G>T)	.	.	0.999979422316293	0.95
18	33716270	C	A	18	36136307	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.C218A:p.S73Y;ELP2:NM_001242875:exon3:c.C218A:p.S73Y;ELP2:NM_001242878:exon3:c.C218A:p.S73Y;ELP2:NM_018255:exon3:c.C218A:p.S73Y;ELP2:NM_001242876:exon3:c.C218A:p.S73Y;ELP2:NM_001242877:exon3:c.C218A:p.S73Y;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000540799:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000542824:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000351393:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000442325:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000350494:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000423854:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000544267:exon2:c.C139A:p.P47T;ENSG00000134759:ENST00000358232:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000539560:exon3:c.C218A:p.S73Y;ENSG00000134759:ENST00000545632:exon2:c.C139A:p.P47T;	0.00389887509865939	0.152
18	33716270	C	G	18	36136307	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.C218G:p.S73C;ELP2:NM_001242875:exon3:c.C218G:p.S73C;ELP2:NM_001242878:exon3:c.C218G:p.S73C;ELP2:NM_018255:exon3:c.C218G:p.S73C;ELP2:NM_001242876:exon3:c.C218G:p.S73C;ELP2:NM_001242877:exon3:c.C218G:p.S73C;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000540799:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000542824:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000351393:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000442325:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000350494:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000423854:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000544267:exon2:c.C139G:p.P47A;ENSG00000134759:ENST00000358232:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000539560:exon3:c.C218G:p.S73C;ENSG00000134759:ENST00000545632:exon2:c.C139G:p.P47A;	0.00222925902326611	0.2
18	33716270	C	T	18	36136307	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.C218T:p.S73F;ELP2:NM_001242875:exon3:c.C218T:p.S73F;ELP2:NM_001242878:exon3:c.C218T:p.S73F;ELP2:NM_018255:exon3:c.C218T:p.S73F;ELP2:NM_001242876:exon3:c.C218T:p.S73F;ELP2:NM_001242877:exon3:c.C218T:p.S73F;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000540799:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000542824:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000351393:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000442325:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000350494:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000423854:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000544267:exon2:c.C139T:p.P47S;ENSG00000134759:ENST00000358232:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000539560:exon3:c.C218T:p.S73F;ENSG00000134759:ENST00000545632:exon2:c.C139T:p.P47S;	0.0886787088189426	0.254
18	33716271	C	A	18	36136308	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon3:c.C219A:p.S73S;ELP2:NM_001242875:exon3:c.C219A:p.S73S;ELP2:NM_001242878:exon3:c.C219A:p.S73S;ELP2:NM_018255:exon3:c.C219A:p.S73S;ELP2:NM_001242876:exon3:c.C219A:p.S73S;ELP2:NM_001242877:exon3:c.C219A:p.S73S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000544267:exon2:c.C140A:p.P47H;ENSG00000134759:ENST00000545632:exon2:c.C140A:p.P47H;	1.31340648401545E-4	0.0
18	33716271	C	G	18	36136308	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon3:c.C219G:p.S73S;ELP2:NM_001242875:exon3:c.C219G:p.S73S;ELP2:NM_001242878:exon3:c.C219G:p.S73S;ELP2:NM_018255:exon3:c.C219G:p.S73S;ELP2:NM_001242876:exon3:c.C219G:p.S73S;ELP2:NM_001242877:exon3:c.C219G:p.S73S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000544267:exon2:c.C140G:p.P47R;ENSG00000134759:ENST00000545632:exon2:c.C140G:p.P47R;	1.54338074986118E-5	0.008
18	33716271	C	T	18	36136308	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon3:c.C219T:p.S73S;ELP2:NM_001242875:exon3:c.C219T:p.S73S;ELP2:NM_001242878:exon3:c.C219T:p.S73S;ELP2:NM_018255:exon3:c.C219T:p.S73S;ELP2:NM_001242876:exon3:c.C219T:p.S73S;ELP2:NM_001242877:exon3:c.C219T:p.S73S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000544267:exon2:c.C140T:p.P47L;ENSG00000134759:ENST00000545632:exon2:c.C140T:p.P47L;	2.92504967504465E-5	0.028
18	33716338	C	A	18	36136375	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.C286A:p.Q96K;ELP2:NM_001242875:exon3:c.C286A:p.Q96K;ELP2:NM_001242878:exon3:c.C286A:p.Q96K;ELP2:NM_018255:exon3:c.C286A:p.Q96K;ELP2:NM_001242876:exon3:c.C286A:p.Q96K;ELP2:NM_001242877:exon3:c.C286A:p.Q96K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.C286A:p.Q96K;ENSG00000134759:ENST00000540799:exon3:c.C286A:p.Q96K;ENSG00000134759:ENST00000542824:exon3:c.C286A:p.Q96K;ENSG00000134759:ENST00000351393:exon3:c.C286A:p.Q96K;ENSG00000134759:ENST00000442325:exon3:c.C286A:p.Q96K;ENSG00000134759:ENST00000350494:exon3:c.C286A:p.Q96K;ENSG00000134759:ENST00000423854:exon3:c.C286A:p.Q96K;ENSG00000134759:ENST00000358232:exon3:c.C286A:p.Q96K;ENSG00000134759:ENST00000539560:exon3:c.C286A:p.Q96K;	0.00152417995394433	0.094
18	33716338	C	G	18	36136375	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.C286G:p.Q96E;ELP2:NM_001242875:exon3:c.C286G:p.Q96E;ELP2:NM_001242878:exon3:c.C286G:p.Q96E;ELP2:NM_018255:exon3:c.C286G:p.Q96E;ELP2:NM_001242876:exon3:c.C286G:p.Q96E;ELP2:NM_001242877:exon3:c.C286G:p.Q96E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.C286G:p.Q96E;ENSG00000134759:ENST00000540799:exon3:c.C286G:p.Q96E;ENSG00000134759:ENST00000542824:exon3:c.C286G:p.Q96E;ENSG00000134759:ENST00000351393:exon3:c.C286G:p.Q96E;ENSG00000134759:ENST00000442325:exon3:c.C286G:p.Q96E;ENSG00000134759:ENST00000350494:exon3:c.C286G:p.Q96E;ENSG00000134759:ENST00000423854:exon3:c.C286G:p.Q96E;ENSG00000134759:ENST00000358232:exon3:c.C286G:p.Q96E;ENSG00000134759:ENST00000539560:exon3:c.C286G:p.Q96E;	0.00118159020550618	0.086
18	33716338	C	T	18	36136375	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon3:c.C286T:p.Q96X;ELP2:NM_001242875:exon3:c.C286T:p.Q96X;ELP2:NM_001242878:exon3:c.C286T:p.Q96X;ELP2:NM_018255:exon3:c.C286T:p.Q96X;ELP2:NM_001242876:exon3:c.C286T:p.Q96X;ELP2:NM_001242877:exon3:c.C286T:p.Q96X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542430:exon3:c.C286T:p.Q96X;ENSG00000134759:ENST00000540799:exon3:c.C286T:p.Q96X;ENSG00000134759:ENST00000542824:exon3:c.C286T:p.Q96X;ENSG00000134759:ENST00000351393:exon3:c.C286T:p.Q96X;ENSG00000134759:ENST00000442325:exon3:c.C286T:p.Q96X;ENSG00000134759:ENST00000350494:exon3:c.C286T:p.Q96X;ENSG00000134759:ENST00000423854:exon3:c.C286T:p.Q96X;ENSG00000134759:ENST00000358232:exon3:c.C286T:p.Q96X;ENSG00000134759:ENST00000539560:exon3:c.C286T:p.Q96X;	0.990911559756719	0.734
18	33716339	A	C	18	36136376	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.A287C:p.Q96P;ELP2:NM_001242875:exon3:c.A287C:p.Q96P;ELP2:NM_001242878:exon3:c.A287C:p.Q96P;ELP2:NM_018255:exon3:c.A287C:p.Q96P;ELP2:NM_001242876:exon3:c.A287C:p.Q96P;ELP2:NM_001242877:exon3:c.A287C:p.Q96P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.A287C:p.Q96P;ENSG00000134759:ENST00000540799:exon3:c.A287C:p.Q96P;ENSG00000134759:ENST00000542824:exon3:c.A287C:p.Q96P;ENSG00000134759:ENST00000351393:exon3:c.A287C:p.Q96P;ENSG00000134759:ENST00000442325:exon3:c.A287C:p.Q96P;ENSG00000134759:ENST00000350494:exon3:c.A287C:p.Q96P;ENSG00000134759:ENST00000423854:exon3:c.A287C:p.Q96P;ENSG00000134759:ENST00000358232:exon3:c.A287C:p.Q96P;ENSG00000134759:ENST00000539560:exon3:c.A287C:p.Q96P;	0.879484247493147	0.658
18	33716339	A	G	18	36136376	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.A287G:p.Q96R;ELP2:NM_001242875:exon3:c.A287G:p.Q96R;ELP2:NM_001242878:exon3:c.A287G:p.Q96R;ELP2:NM_018255:exon3:c.A287G:p.Q96R;ELP2:NM_001242876:exon3:c.A287G:p.Q96R;ELP2:NM_001242877:exon3:c.A287G:p.Q96R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.A287G:p.Q96R;ENSG00000134759:ENST00000540799:exon3:c.A287G:p.Q96R;ENSG00000134759:ENST00000542824:exon3:c.A287G:p.Q96R;ENSG00000134759:ENST00000351393:exon3:c.A287G:p.Q96R;ENSG00000134759:ENST00000442325:exon3:c.A287G:p.Q96R;ENSG00000134759:ENST00000350494:exon3:c.A287G:p.Q96R;ENSG00000134759:ENST00000423854:exon3:c.A287G:p.Q96R;ENSG00000134759:ENST00000358232:exon3:c.A287G:p.Q96R;ENSG00000134759:ENST00000539560:exon3:c.A287G:p.Q96R;	0.563344325887722	0.526
18	33716339	A	T	18	36136376	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.A287T:p.Q96L;ELP2:NM_001242875:exon3:c.A287T:p.Q96L;ELP2:NM_001242878:exon3:c.A287T:p.Q96L;ELP2:NM_018255:exon3:c.A287T:p.Q96L;ELP2:NM_001242876:exon3:c.A287T:p.Q96L;ELP2:NM_001242877:exon3:c.A287T:p.Q96L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.A287T:p.Q96L;ENSG00000134759:ENST00000540799:exon3:c.A287T:p.Q96L;ENSG00000134759:ENST00000542824:exon3:c.A287T:p.Q96L;ENSG00000134759:ENST00000351393:exon3:c.A287T:p.Q96L;ENSG00000134759:ENST00000442325:exon3:c.A287T:p.Q96L;ENSG00000134759:ENST00000350494:exon3:c.A287T:p.Q96L;ENSG00000134759:ENST00000423854:exon3:c.A287T:p.Q96L;ENSG00000134759:ENST00000358232:exon3:c.A287T:p.Q96L;ENSG00000134759:ENST00000539560:exon3:c.A287T:p.Q96L;	0.972318088025885	0.774
18	33716340	G	A	18	36136377	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon3:c.G288A:p.Q96Q;ELP2:NM_001242875:exon3:c.G288A:p.Q96Q;ELP2:NM_001242878:exon3:c.G288A:p.Q96Q;ELP2:NM_018255:exon3:c.G288A:p.Q96Q;ELP2:NM_001242876:exon3:c.G288A:p.Q96Q;ELP2:NM_001242877:exon3:c.G288A:p.Q96Q;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.G288A:p.Q96Q;ENSG00000134759:ENST00000540799:exon3:c.G288A:p.Q96Q;ENSG00000134759:ENST00000542824:exon3:c.G288A:p.Q96Q;ENSG00000134759:ENST00000351393:exon3:c.G288A:p.Q96Q;ENSG00000134759:ENST00000442325:exon3:c.G288A:p.Q96Q;ENSG00000134759:ENST00000350494:exon3:c.G288A:p.Q96Q;ENSG00000134759:ENST00000423854:exon3:c.G288A:p.Q96Q;ENSG00000134759:ENST00000358232:exon3:c.G288A:p.Q96Q;ENSG00000134759:ENST00000539560:exon3:c.G288A:p.Q96Q;	0.637481744942138	0.666
18	33716340	G	C	18	36136377	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.G288C:p.Q96H;ELP2:NM_001242875:exon3:c.G288C:p.Q96H;ELP2:NM_001242878:exon3:c.G288C:p.Q96H;ELP2:NM_018255:exon3:c.G288C:p.Q96H;ELP2:NM_001242876:exon3:c.G288C:p.Q96H;ELP2:NM_001242877:exon3:c.G288C:p.Q96H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.G288C:p.Q96H;ENSG00000134759:ENST00000540799:exon3:c.G288C:p.Q96H;ENSG00000134759:ENST00000542824:exon3:c.G288C:p.Q96H;ENSG00000134759:ENST00000351393:exon3:c.G288C:p.Q96H;ENSG00000134759:ENST00000442325:exon3:c.G288C:p.Q96H;ENSG00000134759:ENST00000350494:exon3:c.G288C:p.Q96H;ENSG00000134759:ENST00000423854:exon3:c.G288C:p.Q96H;ENSG00000134759:ENST00000358232:exon3:c.G288C:p.Q96H;ENSG00000134759:ENST00000539560:exon3:c.G288C:p.Q96H;	0.890640172387845	0.714
18	33716340	G	T	18	36136377	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon3:c.G288T:p.Q96H;ELP2:NM_001242875:exon3:c.G288T:p.Q96H;ELP2:NM_001242878:exon3:c.G288T:p.Q96H;ELP2:NM_018255:exon3:c.G288T:p.Q96H;ELP2:NM_001242876:exon3:c.G288T:p.Q96H;ELP2:NM_001242877:exon3:c.G288T:p.Q96H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542430:exon3:c.G288T:p.Q96H;ENSG00000134759:ENST00000540799:exon3:c.G288T:p.Q96H;ENSG00000134759:ENST00000542824:exon3:c.G288T:p.Q96H;ENSG00000134759:ENST00000351393:exon3:c.G288T:p.Q96H;ENSG00000134759:ENST00000442325:exon3:c.G288T:p.Q96H;ENSG00000134759:ENST00000350494:exon3:c.G288T:p.Q96H;ENSG00000134759:ENST00000423854:exon3:c.G288T:p.Q96H;ENSG00000134759:ENST00000358232:exon3:c.G288T:p.Q96H;ENSG00000134759:ENST00000539560:exon3:c.G288T:p.Q96H;	0.833999350992744	0.814
18	33716341	G	A	18	36136378	y	y	splicing	ELP2(NM_001242875:exon3:c.288+1G>A;NM_001242876:exon3:c.288+1G>A;NM_018255:exon3:c.288+1G>A;NM_001242878:exon3:c.288+1G>A;NM_001242877:exon3:c.288+1G>A;NM_001242879:exon3:c.288+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.288+1G>A;ENST00000544267:exon2:c.209+1G>A;ENST00000351393:exon3:c.288+1G>A;ENST00000545632:exon2:c.209+1G>A;ENST00000442325:exon3:c.288+1G>A;ENST00000423854:exon3:c.288+1G>A;ENST00000539560:exon3:c.288+1G>A;ENST00000542430:exon3:c.288+1G>A;ENST00000350494:exon3:c.288+1G>A;ENST00000542824:exon3:c.288+1G>A;ENST00000540799:exon3:c.288+1G>A)	.	.	0.999981760802075	0.936
18	33716341	G	C	18	36136378	y	y	splicing	ELP2(NM_001242875:exon3:c.288+1G>C;NM_001242876:exon3:c.288+1G>C;NM_018255:exon3:c.288+1G>C;NM_001242878:exon3:c.288+1G>C;NM_001242877:exon3:c.288+1G>C;NM_001242879:exon3:c.288+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.288+1G>C;ENST00000544267:exon2:c.209+1G>C;ENST00000351393:exon3:c.288+1G>C;ENST00000545632:exon2:c.209+1G>C;ENST00000442325:exon3:c.288+1G>C;ENST00000423854:exon3:c.288+1G>C;ENST00000539560:exon3:c.288+1G>C;ENST00000542430:exon3:c.288+1G>C;ENST00000350494:exon3:c.288+1G>C;ENST00000542824:exon3:c.288+1G>C;ENST00000540799:exon3:c.288+1G>C)	.	.	0.999981760802075	0.934
18	33716341	G	T	18	36136378	y	y	splicing	ELP2(NM_001242875:exon3:c.288+1G>T;NM_001242876:exon3:c.288+1G>T;NM_018255:exon3:c.288+1G>T;NM_001242878:exon3:c.288+1G>T;NM_001242877:exon3:c.288+1G>T;NM_001242879:exon3:c.288+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.288+1G>T;ENST00000544267:exon2:c.209+1G>T;ENST00000351393:exon3:c.288+1G>T;ENST00000545632:exon2:c.209+1G>T;ENST00000442325:exon3:c.288+1G>T;ENST00000423854:exon3:c.288+1G>T;ENST00000539560:exon3:c.288+1G>T;ENST00000542430:exon3:c.288+1G>T;ENST00000350494:exon3:c.288+1G>T;ENST00000542824:exon3:c.288+1G>T;ENST00000540799:exon3:c.288+1G>T)	.	.	0.999981760802075	0.936
18	33716342	T	A	18	36136379	y	y	splicing	ELP2(NM_001242875:exon3:c.288+2T>A;NM_001242876:exon3:c.288+2T>A;NM_018255:exon3:c.288+2T>A;NM_001242878:exon3:c.288+2T>A;NM_001242877:exon3:c.288+2T>A;NM_001242879:exon3:c.288+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.288+2T>A;ENST00000544267:exon2:c.209+2T>A;ENST00000351393:exon3:c.288+2T>A;ENST00000545632:exon2:c.209+2T>A;ENST00000442325:exon3:c.288+2T>A;ENST00000423854:exon3:c.288+2T>A;ENST00000539560:exon3:c.288+2T>A;ENST00000542430:exon3:c.288+2T>A;ENST00000350494:exon3:c.288+2T>A;ENST00000542824:exon3:c.288+2T>A;ENST00000540799:exon3:c.288+2T>A)	.	.	0.999989917668626	0.926
18	33716342	T	C	18	36136379	y	y	splicing	ELP2(NM_001242875:exon3:c.288+2T>C;NM_001242876:exon3:c.288+2T>C;NM_018255:exon3:c.288+2T>C;NM_001242878:exon3:c.288+2T>C;NM_001242877:exon3:c.288+2T>C;NM_001242879:exon3:c.288+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.288+2T>C;ENST00000544267:exon2:c.209+2T>C;ENST00000351393:exon3:c.288+2T>C;ENST00000545632:exon2:c.209+2T>C;ENST00000442325:exon3:c.288+2T>C;ENST00000423854:exon3:c.288+2T>C;ENST00000539560:exon3:c.288+2T>C;ENST00000542430:exon3:c.288+2T>C;ENST00000350494:exon3:c.288+2T>C;ENST00000542824:exon3:c.288+2T>C;ENST00000540799:exon3:c.288+2T>C)	.	.	0.999939711763648	0.856
18	33716342	T	G	18	36136379	y	y	splicing	ELP2(NM_001242875:exon3:c.288+2T>G;NM_001242876:exon3:c.288+2T>G;NM_018255:exon3:c.288+2T>G;NM_001242878:exon3:c.288+2T>G;NM_001242877:exon3:c.288+2T>G;NM_001242879:exon3:c.288+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon3:c.288+2T>G;ENST00000544267:exon2:c.209+2T>G;ENST00000351393:exon3:c.288+2T>G;ENST00000545632:exon2:c.209+2T>G;ENST00000442325:exon3:c.288+2T>G;ENST00000423854:exon3:c.288+2T>G;ENST00000539560:exon3:c.288+2T>G;ENST00000542430:exon3:c.288+2T>G;ENST00000350494:exon3:c.288+2T>G;ENST00000542824:exon3:c.288+2T>G;ENST00000540799:exon3:c.288+2T>G)	.	.	0.999989917668626	0.926
18	33716343	G	A	18	36136380	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.85727313929289E-5	0.016
18	33716343	G	C	18	36136380	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0126647900105291	0.162
18	33716343	G	T	18	36136380	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00915206163874209	0.206
18	33716344	A	C	18	36136381	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.125275740806078	0.216
18	33716344	A	G	18	36136381	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.413015504564824	0.368
18	33716344	A	T	18	36136381	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.236236439863427	0.3
18	33716345	G	A	18	36136382	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998867272580935	0.964
18	33716345	G	C	18	36136382	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996450291154675	0.886
18	33716345	G	T	18	36136382	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99915114562853	0.902
18	33716346	T	A	18	36136383	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0728960908585345	0.43
18	33716346	T	C	18	36136383	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0120816347372142	0.364
18	33716346	T	G	18	36136383	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0078120151196499	0.214
18	33716347	G	A	18	36136384	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.50653677819676E-4	0.002
18	33716347	G	C	18	36136384	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.33979073727563E-5	0.0
18	33716347	G	T	18	36136384	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.59655864539208E-4	0.0
18	33716348	G	A	18	36136385	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0377581666167758	0.066
18	33716348	G	C	18	36136385	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0182398060985266	0.04
18	33716348	G	T	18	36136385	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.028015080484361	0.06
18	33718221	T	A	18	36138258	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00356100511457579	0.166
18	33718221	T	C	18	36138258	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.18127530423328E-5	0.016
18	33718221	T	G	18	36138258	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00276980804246831	0.15
18	33718222	T	A	18	36138259	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00948181232109717	0.236
18	33718222	T	C	18	36138259	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.51941654703518E-4	0.026
18	33718222	T	G	18	36138259	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0354331155767853	0.292
18	33718223	T	A	18	36138260	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0747187422277493	0.45
18	33718223	T	C	18	36138260	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00312049017129169	0.076
18	33718223	T	G	18	36138260	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.103832637554215	0.436
18	33718224	C	A	18	36138261	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00346682555707689	0.09
18	33718224	C	G	18	36138261	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00109345503274277	0.098
18	33718224	C	T	18	36138261	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.2524602194466E-4	0.01
18	33718225	T	A	18	36138262	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999911472591001	0.98
18	33718225	T	C	18	36138262	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.76324796582144E-4	0.036
18	33718225	T	G	18	36138262	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0442749785172056	0.306
18	33718226	G	A	18	36138263	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.32061763243074E-4	0.026
18	33718226	G	C	18	36138263	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.28476087749528E-4	0.016
18	33718226	G	T	18	36138263	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.47852196268151E-4	0.008
18	33718227	A	C	18	36138264	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.11595480444053E-4	0.006
18	33718227	A	G	18	36138264	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.12900403571897E-5	0.004
18	33718227	A	T	18	36138264	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.25048635357399E-4	0.016
18	33718228	T	A	18	36138265	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.698820252820139	0.444
18	33718228	T	C	18	36138265	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00773242498508201	0.148
18	33718228	T	G	18	36138265	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999972896380662	0.968
18	33718229	T	A	18	36138266	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.20896670787425E-5	0.0
18	33718229	T	C	18	36138266	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.13937525565465E-4	0.024
18	33718229	T	G	18	36138266	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.09831937566626E-4	0.038
18	33718230	C	A	18	36138267	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.657824535532567	0.622
18	33718230	C	G	18	36138267	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999857400498626	0.956
18	33718230	C	T	18	36138267	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00142651703690519	0.054
18	33718231	A	C	18	36138268	y	y	splicing	ELP2(NM_001242875:exon4:c.289-2A>C;NM_001242876:exon4:c.289-2A>C;NM_018255:exon4:c.289-2A>C;NM_001242878:exon4:c.289-2A>C;NM_001242877:exon4:c.289-2A>C;NM_001242879:exon4:c.289-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.289-2A>C;ENST00000544267:exon3:c.210-2A>C;ENST00000351393:exon4:c.289-2A>C;ENST00000545632:exon3:c.210-2A>C;ENST00000442325:exon4:c.289-2A>C;ENST00000423854:exon4:c.289-2A>C;ENST00000539560:exon4:c.289-2A>C;ENST00000350494:exon4:c.289-2A>C;ENST00000542824:exon4:c.289-2A>C)	.	.	0.999972413313263	0.952
18	33718231	A	G	18	36138268	y	y	splicing	ELP2(NM_001242875:exon4:c.289-2A>G;NM_001242876:exon4:c.289-2A>G;NM_018255:exon4:c.289-2A>G;NM_001242878:exon4:c.289-2A>G;NM_001242877:exon4:c.289-2A>G;NM_001242879:exon4:c.289-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.289-2A>G;ENST00000544267:exon3:c.210-2A>G;ENST00000351393:exon4:c.289-2A>G;ENST00000545632:exon3:c.210-2A>G;ENST00000442325:exon4:c.289-2A>G;ENST00000423854:exon4:c.289-2A>G;ENST00000539560:exon4:c.289-2A>G;ENST00000350494:exon4:c.289-2A>G;ENST00000542824:exon4:c.289-2A>G)	.	.	0.999972413313263	0.952
18	33718231	A	T	18	36138268	y	y	splicing	ELP2(NM_001242875:exon4:c.289-2A>T;NM_001242876:exon4:c.289-2A>T;NM_018255:exon4:c.289-2A>T;NM_001242878:exon4:c.289-2A>T;NM_001242877:exon4:c.289-2A>T;NM_001242879:exon4:c.289-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.289-2A>T;ENST00000544267:exon3:c.210-2A>T;ENST00000351393:exon4:c.289-2A>T;ENST00000545632:exon3:c.210-2A>T;ENST00000442325:exon4:c.289-2A>T;ENST00000423854:exon4:c.289-2A>T;ENST00000539560:exon4:c.289-2A>T;ENST00000350494:exon4:c.289-2A>T;ENST00000542824:exon4:c.289-2A>T)	.	.	0.999972413313263	0.952
18	33718232	G	A	18	36138269	y	y	splicing	ELP2(NM_001242875:exon4:c.289-1G>A;NM_001242876:exon4:c.289-1G>A;NM_018255:exon4:c.289-1G>A;NM_001242878:exon4:c.289-1G>A;NM_001242877:exon4:c.289-1G>A;NM_001242879:exon4:c.289-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.289-1G>A;ENST00000544267:exon3:c.210-1G>A;ENST00000351393:exon4:c.289-1G>A;ENST00000545632:exon3:c.210-1G>A;ENST00000442325:exon4:c.289-1G>A;ENST00000423854:exon4:c.289-1G>A;ENST00000539560:exon4:c.289-1G>A;ENST00000350494:exon4:c.289-1G>A;ENST00000542824:exon4:c.289-1G>A)	.	.	0.999975670602714	0.922
18	33718232	G	C	18	36138269	y	y	splicing	ELP2(NM_001242875:exon4:c.289-1G>C;NM_001242876:exon4:c.289-1G>C;NM_018255:exon4:c.289-1G>C;NM_001242878:exon4:c.289-1G>C;NM_001242877:exon4:c.289-1G>C;NM_001242879:exon4:c.289-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.289-1G>C;ENST00000544267:exon3:c.210-1G>C;ENST00000351393:exon4:c.289-1G>C;ENST00000545632:exon3:c.210-1G>C;ENST00000442325:exon4:c.289-1G>C;ENST00000423854:exon4:c.289-1G>C;ENST00000539560:exon4:c.289-1G>C;ENST00000350494:exon4:c.289-1G>C;ENST00000542824:exon4:c.289-1G>C)	.	.	0.999962043609439	0.898
18	33718232	G	T	18	36138269	y	y	splicing	ELP2(NM_001242875:exon4:c.289-1G>T;NM_001242876:exon4:c.289-1G>T;NM_018255:exon4:c.289-1G>T;NM_001242878:exon4:c.289-1G>T;NM_001242877:exon4:c.289-1G>T;NM_001242879:exon4:c.289-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.289-1G>T;ENST00000544267:exon3:c.210-1G>T;ENST00000351393:exon4:c.289-1G>T;ENST00000545632:exon3:c.210-1G>T;ENST00000442325:exon4:c.289-1G>T;ENST00000423854:exon4:c.289-1G>T;ENST00000539560:exon4:c.289-1G>T;ENST00000350494:exon4:c.289-1G>T;ENST00000542824:exon4:c.289-1G>T)	.	.	0.999963019912029	0.892
18	33718233	C	A	18	36138270	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.C289A:p.L97I;ELP2:NM_001242875:exon4:c.C289A:p.L97I;ELP2:NM_001242878:exon4:c.C289A:p.L97I;ELP2:NM_018255:exon4:c.C289A:p.L97I;ELP2:NM_001242876:exon4:c.C289A:p.L97I;ELP2:NM_001242877:exon4:c.C289A:p.L97I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.C289A:p.L97I;ENSG00000134759:ENST00000351393:exon4:c.C289A:p.L97I;ENSG00000134759:ENST00000442325:exon4:c.C289A:p.L97I;ENSG00000134759:ENST00000350494:exon4:c.C289A:p.L97I;ENSG00000134759:ENST00000423854:exon4:c.C289A:p.L97I;ENSG00000134759:ENST00000358232:exon4:c.C289A:p.L97I;ENSG00000134759:ENST00000539560:exon4:c.C289A:p.L97I;	1.37886101117005E-4	0.0
18	33718233	C	G	18	36138270	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.C289G:p.L97V;ELP2:NM_001242875:exon4:c.C289G:p.L97V;ELP2:NM_001242878:exon4:c.C289G:p.L97V;ELP2:NM_018255:exon4:c.C289G:p.L97V;ELP2:NM_001242876:exon4:c.C289G:p.L97V;ELP2:NM_001242877:exon4:c.C289G:p.L97V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.C289G:p.L97V;ENSG00000134759:ENST00000351393:exon4:c.C289G:p.L97V;ENSG00000134759:ENST00000442325:exon4:c.C289G:p.L97V;ENSG00000134759:ENST00000350494:exon4:c.C289G:p.L97V;ENSG00000134759:ENST00000423854:exon4:c.C289G:p.L97V;ENSG00000134759:ENST00000358232:exon4:c.C289G:p.L97V;ENSG00000134759:ENST00000539560:exon4:c.C289G:p.L97V;	7.76824451234399E-4	0.282
18	33718233	C	T	18	36138270	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.C289T:p.L97F;ELP2:NM_001242875:exon4:c.C289T:p.L97F;ELP2:NM_001242878:exon4:c.C289T:p.L97F;ELP2:NM_018255:exon4:c.C289T:p.L97F;ELP2:NM_001242876:exon4:c.C289T:p.L97F;ELP2:NM_001242877:exon4:c.C289T:p.L97F;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.C289T:p.L97F;ENSG00000134759:ENST00000351393:exon4:c.C289T:p.L97F;ENSG00000134759:ENST00000442325:exon4:c.C289T:p.L97F;ENSG00000134759:ENST00000350494:exon4:c.C289T:p.L97F;ENSG00000134759:ENST00000423854:exon4:c.C289T:p.L97F;ENSG00000134759:ENST00000358232:exon4:c.C289T:p.L97F;ENSG00000134759:ENST00000539560:exon4:c.C289T:p.L97F;	6.68626646027701E-4	0.062
18	33718234	T	A	18	36138271	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.T290A:p.L97H;ELP2:NM_001242875:exon4:c.T290A:p.L97H;ELP2:NM_001242878:exon4:c.T290A:p.L97H;ELP2:NM_018255:exon4:c.T290A:p.L97H;ELP2:NM_001242876:exon4:c.T290A:p.L97H;ELP2:NM_001242877:exon4:c.T290A:p.L97H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.T290A:p.L97H;ENSG00000134759:ENST00000351393:exon4:c.T290A:p.L97H;ENSG00000134759:ENST00000442325:exon4:c.T290A:p.L97H;ENSG00000134759:ENST00000350494:exon4:c.T290A:p.L97H;ENSG00000134759:ENST00000423854:exon4:c.T290A:p.L97H;ENSG00000134759:ENST00000358232:exon4:c.T290A:p.L97H;ENSG00000134759:ENST00000539560:exon4:c.T290A:p.L97H;	0.00211588230694366	0.114
18	33718234	T	C	18	36138271	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.T290C:p.L97P;ELP2:NM_001242875:exon4:c.T290C:p.L97P;ELP2:NM_001242878:exon4:c.T290C:p.L97P;ELP2:NM_018255:exon4:c.T290C:p.L97P;ELP2:NM_001242876:exon4:c.T290C:p.L97P;ELP2:NM_001242877:exon4:c.T290C:p.L97P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.T290C:p.L97P;ENSG00000134759:ENST00000351393:exon4:c.T290C:p.L97P;ENSG00000134759:ENST00000442325:exon4:c.T290C:p.L97P;ENSG00000134759:ENST00000350494:exon4:c.T290C:p.L97P;ENSG00000134759:ENST00000423854:exon4:c.T290C:p.L97P;ENSG00000134759:ENST00000358232:exon4:c.T290C:p.L97P;ENSG00000134759:ENST00000539560:exon4:c.T290C:p.L97P;	7.09824818143235E-4	0.122
18	33718234	T	G	18	36138271	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.T290G:p.L97R;ELP2:NM_001242875:exon4:c.T290G:p.L97R;ELP2:NM_001242878:exon4:c.T290G:p.L97R;ELP2:NM_018255:exon4:c.T290G:p.L97R;ELP2:NM_001242876:exon4:c.T290G:p.L97R;ELP2:NM_001242877:exon4:c.T290G:p.L97R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.T290G:p.L97R;ENSG00000134759:ENST00000351393:exon4:c.T290G:p.L97R;ENSG00000134759:ENST00000442325:exon4:c.T290G:p.L97R;ENSG00000134759:ENST00000350494:exon4:c.T290G:p.L97R;ENSG00000134759:ENST00000423854:exon4:c.T290G:p.L97R;ENSG00000134759:ENST00000358232:exon4:c.T290G:p.L97R;ENSG00000134759:ENST00000539560:exon4:c.T290G:p.L97R;	2.27101513321133E-4	0.032
18	33718387	A	C	18	36138424	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.A443C:p.E148A;ELP2:NM_001242875:exon4:c.A443C:p.E148A;ELP2:NM_001242878:exon4:c.A443C:p.E148A;ELP2:NM_018255:exon4:c.A443C:p.E148A;ELP2:NM_001242876:exon4:c.A443C:p.E148A;ELP2:NM_001242877:exon4:c.A443C:p.E148A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.A443C:p.E148A;ENSG00000134759:ENST00000351393:exon4:c.A443C:p.E148A;ENSG00000134759:ENST00000442325:exon4:c.A443C:p.E148A;ENSG00000134759:ENST00000350494:exon4:c.A443C:p.E148A;ENSG00000134759:ENST00000423854:exon4:c.A443C:p.E148A;ENSG00000134759:ENST00000358232:exon4:c.A443C:p.E148A;ENSG00000134759:ENST00000539560:exon4:c.A443C:p.E148A;	0.00207962135488061	0.032
18	33718387	A	G	18	36138424	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.A443G:p.E148G;ELP2:NM_001242875:exon4:c.A443G:p.E148G;ELP2:NM_001242878:exon4:c.A443G:p.E148G;ELP2:NM_018255:exon4:c.A443G:p.E148G;ELP2:NM_001242876:exon4:c.A443G:p.E148G;ELP2:NM_001242877:exon4:c.A443G:p.E148G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.A443G:p.E148G;ENSG00000134759:ENST00000351393:exon4:c.A443G:p.E148G;ENSG00000134759:ENST00000442325:exon4:c.A443G:p.E148G;ENSG00000134759:ENST00000350494:exon4:c.A443G:p.E148G;ENSG00000134759:ENST00000423854:exon4:c.A443G:p.E148G;ENSG00000134759:ENST00000358232:exon4:c.A443G:p.E148G;ENSG00000134759:ENST00000539560:exon4:c.A443G:p.E148G;	0.00301000991876437	0.032
18	33718387	A	T	18	36138424	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.A443T:p.E148V;ELP2:NM_001242875:exon4:c.A443T:p.E148V;ELP2:NM_001242878:exon4:c.A443T:p.E148V;ELP2:NM_018255:exon4:c.A443T:p.E148V;ELP2:NM_001242876:exon4:c.A443T:p.E148V;ELP2:NM_001242877:exon4:c.A443T:p.E148V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.A443T:p.E148V;ENSG00000134759:ENST00000351393:exon4:c.A443T:p.E148V;ENSG00000134759:ENST00000442325:exon4:c.A443T:p.E148V;ENSG00000134759:ENST00000350494:exon4:c.A443T:p.E148V;ENSG00000134759:ENST00000423854:exon4:c.A443T:p.E148V;ENSG00000134759:ENST00000358232:exon4:c.A443T:p.E148V;ENSG00000134759:ENST00000539560:exon4:c.A443T:p.E148V;	0.418340530570115	0.474
18	33718388	A	C	18	36138425	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.A444C:p.E148D;ELP2:NM_001242875:exon4:c.A444C:p.E148D;ELP2:NM_001242878:exon4:c.A444C:p.E148D;ELP2:NM_018255:exon4:c.A444C:p.E148D;ELP2:NM_001242876:exon4:c.A444C:p.E148D;ELP2:NM_001242877:exon4:c.A444C:p.E148D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.A444C:p.E148D;ENSG00000134759:ENST00000351393:exon4:c.A444C:p.E148D;ENSG00000134759:ENST00000442325:exon4:c.A444C:p.E148D;ENSG00000134759:ENST00000350494:exon4:c.A444C:p.E148D;ENSG00000134759:ENST00000423854:exon4:c.A444C:p.E148D;ENSG00000134759:ENST00000358232:exon4:c.A444C:p.E148D;ENSG00000134759:ENST00000539560:exon4:c.A444C:p.E148D;	0.994109774674384	0.95
18	33718388	A	G	18	36138425	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon4:c.A444G:p.E148E;ELP2:NM_001242875:exon4:c.A444G:p.E148E;ELP2:NM_001242878:exon4:c.A444G:p.E148E;ELP2:NM_018255:exon4:c.A444G:p.E148E;ELP2:NM_001242876:exon4:c.A444G:p.E148E;ELP2:NM_001242877:exon4:c.A444G:p.E148E;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.A444G:p.E148E;ENSG00000134759:ENST00000351393:exon4:c.A444G:p.E148E;ENSG00000134759:ENST00000442325:exon4:c.A444G:p.E148E;ENSG00000134759:ENST00000350494:exon4:c.A444G:p.E148E;ENSG00000134759:ENST00000423854:exon4:c.A444G:p.E148E;ENSG00000134759:ENST00000358232:exon4:c.A444G:p.E148E;ENSG00000134759:ENST00000539560:exon4:c.A444G:p.E148E;	0.998939276969565	0.96
18	33718388	A	T	18	36138425	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.A444T:p.E148D;ELP2:NM_001242875:exon4:c.A444T:p.E148D;ELP2:NM_001242878:exon4:c.A444T:p.E148D;ELP2:NM_018255:exon4:c.A444T:p.E148D;ELP2:NM_001242876:exon4:c.A444T:p.E148D;ELP2:NM_001242877:exon4:c.A444T:p.E148D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.A444T:p.E148D;ENSG00000134759:ENST00000351393:exon4:c.A444T:p.E148D;ENSG00000134759:ENST00000442325:exon4:c.A444T:p.E148D;ENSG00000134759:ENST00000350494:exon4:c.A444T:p.E148D;ENSG00000134759:ENST00000423854:exon4:c.A444T:p.E148D;ENSG00000134759:ENST00000358232:exon4:c.A444T:p.E148D;ENSG00000134759:ENST00000539560:exon4:c.A444T:p.E148D;	0.999284108384262	0.97
18	33718389	G	A	18	36138426	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.G445A:p.G149S;ELP2:NM_001242875:exon4:c.G445A:p.V149I;ELP2:NM_001242878:exon4:c.G445A:p.V149I;ELP2:NM_018255:exon4:c.G445A:p.V149I;ELP2:NM_001242876:exon4:c.G445A:p.V149I;ELP2:NM_001242877:exon4:c.G445A:p.V149I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.G445A:p.V149I;ENSG00000134759:ENST00000351393:exon4:c.G445A:p.V149I;ENSG00000134759:ENST00000442325:exon4:c.G445A:p.V149I;ENSG00000134759:ENST00000350494:exon4:c.G445A:p.V149I;ENSG00000134759:ENST00000423854:exon4:c.G445A:p.G149S;ENSG00000134759:ENST00000358232:exon4:c.G445A:p.V149I;ENSG00000134759:ENST00000539560:exon4:c.G445A:p.V149I;	0.999302962346474	0.984
18	33718389	G	C	18	36138426	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.G445C:p.G149R;ELP2:NM_001242875:exon4:c.G445C:p.V149L;ELP2:NM_001242878:exon4:c.G445C:p.V149L;ELP2:NM_018255:exon4:c.G445C:p.V149L;ELP2:NM_001242876:exon4:c.G445C:p.V149L;ELP2:NM_001242877:exon4:c.G445C:p.V149L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.G445C:p.V149L;ENSG00000134759:ENST00000351393:exon4:c.G445C:p.V149L;ENSG00000134759:ENST00000442325:exon4:c.G445C:p.V149L;ENSG00000134759:ENST00000350494:exon4:c.G445C:p.V149L;ENSG00000134759:ENST00000423854:exon4:c.G445C:p.G149R;ENSG00000134759:ENST00000358232:exon4:c.G445C:p.V149L;ENSG00000134759:ENST00000539560:exon4:c.G445C:p.V149L;	0.999921256961808	0.988
18	33718389	G	T	18	36138426	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon4:c.G445T:p.G149C;ELP2:NM_001242875:exon4:c.G445T:p.V149L;ELP2:NM_001242878:exon4:c.G445T:p.V149L;ELP2:NM_018255:exon4:c.G445T:p.V149L;ELP2:NM_001242876:exon4:c.G445T:p.V149F;ELP2:NM_001242877:exon4:c.G445T:p.V149L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon4:c.G445T:p.V149L;ENSG00000134759:ENST00000351393:exon4:c.G445T:p.V149L;ENSG00000134759:ENST00000442325:exon4:c.G445T:p.V149L;ENSG00000134759:ENST00000350494:exon4:c.G445T:p.V149F;ENSG00000134759:ENST00000423854:exon4:c.G445T:p.G149C;ENSG00000134759:ENST00000358232:exon4:c.G445T:p.V149L;ENSG00000134759:ENST00000539560:exon4:c.G445T:p.V149L;	0.999882274800909	0.99
18	33718390	G	A	18	36138427	y	y	splicing	ELP2(NM_001242875:exon4:c.445+1G>A;NM_001242876:exon4:c.445+1G>A;NM_018255:exon4:c.445+1G>A;NM_001242878:exon4:c.445+1G>A;NM_001242877:exon4:c.445+1G>A;NM_001242879:exon4:c.445+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.445+1G>A;ENST00000544267:exon3:c.366+1G>A;ENST00000351393:exon4:c.445+1G>A;ENST00000545632:exon3:c.366+1G>A;ENST00000442325:exon4:c.445+1G>A;ENST00000423854:exon4:c.445+1G>A;ENST00000539560:exon4:c.445+1G>A;ENST00000542430:exon4:c.420+1G>A;ENST00000350494:exon4:c.445+1G>A;ENST00000542824:exon4:c.445+1G>A)	.	.	0.999989072007339	0.932
18	33718390	G	C	18	36138427	y	y	splicing	ELP2(NM_001242875:exon4:c.445+1G>C;NM_001242876:exon4:c.445+1G>C;NM_018255:exon4:c.445+1G>C;NM_001242878:exon4:c.445+1G>C;NM_001242877:exon4:c.445+1G>C;NM_001242879:exon4:c.445+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.445+1G>C;ENST00000544267:exon3:c.366+1G>C;ENST00000351393:exon4:c.445+1G>C;ENST00000545632:exon3:c.366+1G>C;ENST00000442325:exon4:c.445+1G>C;ENST00000423854:exon4:c.445+1G>C;ENST00000539560:exon4:c.445+1G>C;ENST00000542430:exon4:c.420+1G>C;ENST00000350494:exon4:c.445+1G>C;ENST00000542824:exon4:c.445+1G>C)	.	.	0.999989072007339	0.932
18	33718390	G	T	18	36138427	y	y	splicing	ELP2(NM_001242875:exon4:c.445+1G>T;NM_001242876:exon4:c.445+1G>T;NM_018255:exon4:c.445+1G>T;NM_001242878:exon4:c.445+1G>T;NM_001242877:exon4:c.445+1G>T;NM_001242879:exon4:c.445+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.445+1G>T;ENST00000544267:exon3:c.366+1G>T;ENST00000351393:exon4:c.445+1G>T;ENST00000545632:exon3:c.366+1G>T;ENST00000442325:exon4:c.445+1G>T;ENST00000423854:exon4:c.445+1G>T;ENST00000539560:exon4:c.445+1G>T;ENST00000542430:exon4:c.420+1G>T;ENST00000350494:exon4:c.445+1G>T;ENST00000542824:exon4:c.445+1G>T)	.	.	0.999989072007339	0.932
18	33718391	T	A	18	36138428	y	y	splicing	ELP2(NM_001242875:exon4:c.445+2T>A;NM_001242876:exon4:c.445+2T>A;NM_018255:exon4:c.445+2T>A;NM_001242878:exon4:c.445+2T>A;NM_001242877:exon4:c.445+2T>A;NM_001242879:exon4:c.445+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.445+2T>A;ENST00000544267:exon3:c.366+2T>A;ENST00000351393:exon4:c.445+2T>A;ENST00000545632:exon3:c.366+2T>A;ENST00000442325:exon4:c.445+2T>A;ENST00000423854:exon4:c.445+2T>A;ENST00000539560:exon4:c.445+2T>A;ENST00000542430:exon4:c.420+2T>A;ENST00000350494:exon4:c.445+2T>A;ENST00000542824:exon4:c.445+2T>A)	.	.	0.999988247793601	0.928
18	33718391	T	C	18	36138428	y	y	splicing	ELP2(NM_001242875:exon4:c.445+2T>C;NM_001242876:exon4:c.445+2T>C;NM_018255:exon4:c.445+2T>C;NM_001242878:exon4:c.445+2T>C;NM_001242877:exon4:c.445+2T>C;NM_001242879:exon4:c.445+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.445+2T>C;ENST00000544267:exon3:c.366+2T>C;ENST00000351393:exon4:c.445+2T>C;ENST00000545632:exon3:c.366+2T>C;ENST00000442325:exon4:c.445+2T>C;ENST00000423854:exon4:c.445+2T>C;ENST00000539560:exon4:c.445+2T>C;ENST00000542430:exon4:c.420+2T>C;ENST00000350494:exon4:c.445+2T>C;ENST00000542824:exon4:c.445+2T>C)	.	.	0.985752408902503	0.632
18	33718391	T	G	18	36138428	y	y	splicing	ELP2(NM_001242875:exon4:c.445+2T>G;NM_001242876:exon4:c.445+2T>G;NM_018255:exon4:c.445+2T>G;NM_001242878:exon4:c.445+2T>G;NM_001242877:exon4:c.445+2T>G;NM_001242879:exon4:c.445+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon4:c.445+2T>G;ENST00000544267:exon3:c.366+2T>G;ENST00000351393:exon4:c.445+2T>G;ENST00000545632:exon3:c.366+2T>G;ENST00000442325:exon4:c.445+2T>G;ENST00000423854:exon4:c.445+2T>G;ENST00000539560:exon4:c.445+2T>G;ENST00000542430:exon4:c.420+2T>G;ENST00000350494:exon4:c.445+2T>G;ENST00000542824:exon4:c.445+2T>G)	.	.	0.999988247793601	0.928
18	33718392	A	C	18	36138429	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.984835591463079	0.774
18	33718392	A	G	18	36138429	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.571284731024674	0.54
18	33718392	A	T	18	36138429	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.955060980202019	0.608
18	33718393	G	A	18	36138430	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.97433706789407E-5	0.062
18	33718393	G	C	18	36138430	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.40934115377552E-4	0.094
18	33718393	G	T	18	36138430	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.6531943261451E-4	0.044
18	33718394	G	A	18	36138431	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995686003857714	0.68
18	33718394	G	C	18	36138431	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999551725234504	0.76
18	33718394	G	T	18	36138431	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998660596707058	0.646
18	33718395	T	A	18	36138432	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0380710167659493	0.182
18	33718395	T	C	18	36138432	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0141600607290811	0.146
18	33718395	T	G	18	36138432	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0687549925634537	0.204
18	33718396	T	A	18	36138433	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.19000686544811E-5	0.008
18	33718396	T	C	18	36138433	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.0159919564668E-4	0.008
18	33718396	T	G	18	36138433	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.13133876254574E-4	0.014
18	33718397	T	A	18	36138434	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.5389047224637E-4	0.026
18	33718397	T	C	18	36138434	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.10846998552877E-4	0.098
18	33718397	T	G	18	36138434	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.73514344837293E-5	0.03
18	33718746	A	C	18	36138783	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.95684834572656E-5	0.0
18	33718746	A	G	18	36138783	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.18801258792692E-5	0.026
18	33718746	A	T	18	36138783	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.98501777021816E-5	0.0
18	33718747	T	A	18	36138784	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.959803736279442	0.75
18	33718747	T	C	18	36138784	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0946377148490282	0.372
18	33718747	T	G	18	36138784	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999425581062467	0.966
18	33718748	T	A	18	36138785	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.918652667942519	0.728
18	33718748	T	C	18	36138785	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00431428774048184	0.096
18	33718748	T	G	18	36138785	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.716952795374663	0.682
18	33718749	A	C	18	36138786	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.69189804607573E-5	0.028
18	33718749	A	G	18	36138786	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.89748781071896E-5	0.02
18	33718749	A	T	18	36138786	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.87266620538778E-5	0.076
18	33718750	T	A	18	36138787	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.05358083162875	0.334
18	33718750	T	C	18	36138787	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.73459124456233E-4	0.102
18	33718750	T	G	18	36138787	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999894832266331	0.988
18	33718751	T	A	18	36138788	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.234367701500829	0.39
18	33718751	T	C	18	36138788	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.95410963128621E-5	0.044
18	33718751	T	G	18	36138788	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.33590622276333	0.332
18	33718752	T	A	18	36138789	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997598824356545	0.862
18	33718752	T	C	18	36138789	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0035528165288556	0.146
18	33718752	T	G	18	36138789	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.993535731198571	0.814
18	33718753	C	A	18	36138790	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00194703100318896	0.086
18	33718753	C	G	18	36138790	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0897673834974175	0.214
18	33718753	C	T	18	36138790	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.85279969054347E-4	0.024
18	33718754	T	A	18	36138791	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00412468449731059	0.008
18	33718754	T	C	18	36138791	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.29901841488409E-4	0.004
18	33718754	T	G	18	36138791	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0030353767695415	0.044
18	33718755	T	A	18	36138792	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0278984176682012	0.28
18	33718755	T	C	18	36138792	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.68784876544472E-5	0.07
18	33718755	T	G	18	36138792	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.992456997616685	0.786
18	33718756	A	C	18	36138793	y	y	splicing	ELP2(NM_001242875:exon5:c.446-2A>C;NM_018255:exon5:c.446-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon5:c.446-2A>C;ENST00000544267:exon4:c.367-2A>C;ENST00000442325:exon5:c.446-2A>C;ENST00000539560:exon5:c.446-2A>C;ENST00000542430:exon5:c.421-2A>C)	.	.	0.999978952611685	0.946
18	33718756	A	G	18	36138793	y	y	splicing	ELP2(NM_001242875:exon5:c.446-2A>G;NM_018255:exon5:c.446-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon5:c.446-2A>G;ENST00000544267:exon4:c.367-2A>G;ENST00000442325:exon5:c.446-2A>G;ENST00000539560:exon5:c.446-2A>G;ENST00000542430:exon5:c.421-2A>G)	.	.	0.999978952611685	0.946
18	33718756	A	T	18	36138793	y	y	splicing	ELP2(NM_001242875:exon5:c.446-2A>T;NM_018255:exon5:c.446-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon5:c.446-2A>T;ENST00000544267:exon4:c.367-2A>T;ENST00000442325:exon5:c.446-2A>T;ENST00000539560:exon5:c.446-2A>T;ENST00000542430:exon5:c.421-2A>T)	.	.	0.999988247793601	0.946
18	33718757	G	A	18	36138794	y	y	splicing	ELP2(NM_001242875:exon5:c.446-1G>A;NM_018255:exon5:c.446-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon5:c.446-1G>A;ENST00000544267:exon4:c.367-1G>A;ENST00000442325:exon5:c.446-1G>A;ENST00000539560:exon5:c.446-1G>A;ENST00000542430:exon5:c.421-1G>A)	.	.	0.999985532734767	0.948
18	33718757	G	C	18	36138794	y	y	splicing	ELP2(NM_001242875:exon5:c.446-1G>C;NM_018255:exon5:c.446-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon5:c.446-1G>C;ENST00000544267:exon4:c.367-1G>C;ENST00000442325:exon5:c.446-1G>C;ENST00000539560:exon5:c.446-1G>C;ENST00000542430:exon5:c.421-1G>C)	.	.	0.999974090184857	0.948
18	33718757	G	T	18	36138794	y	y	splicing	ELP2(NM_001242875:exon5:c.446-1G>T;NM_018255:exon5:c.446-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon5:c.446-1G>T;ENST00000544267:exon4:c.367-1G>T;ENST00000442325:exon5:c.446-1G>T;ENST00000539560:exon5:c.446-1G>T;ENST00000542430:exon5:c.421-1G>T)	.	.	0.999985532734767	0.948
18	33718758	T	A	18	36138795	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.T446A:p.V149E;ELP2:NM_018255:exon5:c.T446A:p.V149E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon5:c.T446A:p.V149E;ENSG00000134759:ENST00000358232:exon5:c.T446A:p.V149E;ENSG00000134759:ENST00000539560:exon5:c.T446A:p.V149E;	0.0124758033553664	0.252
18	33718758	T	C	18	36138795	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.T446C:p.V149A;ELP2:NM_018255:exon5:c.T446C:p.V149A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon5:c.T446C:p.V149A;ENSG00000134759:ENST00000358232:exon5:c.T446C:p.V149A;ENSG00000134759:ENST00000539560:exon5:c.T446C:p.V149A;	0.00238510604957768	0.022
18	33718758	T	G	18	36138795	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.T446G:p.V149G;ELP2:NM_018255:exon5:c.T446G:p.V149G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon5:c.T446G:p.V149G;ENSG00000134759:ENST00000358232:exon5:c.T446G:p.V149G;ENSG00000134759:ENST00000539560:exon5:c.T446G:p.V149G;	0.00154942024735892	0.074
18	33718759	A	C	18	36138796	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon5:c.A447C:p.V149V;ELP2:NM_018255:exon5:c.A447C:p.V149V;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon5:c.A447C:p.V149V;ENSG00000134759:ENST00000358232:exon5:c.A447C:p.V149V;ENSG00000134759:ENST00000539560:exon5:c.A447C:p.V149V;	2.25278282253021E-4	0.0
18	33718759	A	G	18	36138796	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon5:c.A447G:p.V149V;ELP2:NM_018255:exon5:c.A447G:p.V149V;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon5:c.A447G:p.V149V;ENSG00000134759:ENST00000358232:exon5:c.A447G:p.V149V;ENSG00000134759:ENST00000539560:exon5:c.A447G:p.V149V;	1.72412556857331E-4	0.008
18	33718759	A	T	18	36138796	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon5:c.A447T:p.V149V;ELP2:NM_018255:exon5:c.A447T:p.V149V;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon5:c.A447T:p.V149V;ENSG00000134759:ENST00000358232:exon5:c.A447T:p.V149V;ENSG00000134759:ENST00000539560:exon5:c.A447T:p.V149V;	1.46443857772111E-4	0.004
18	33718833	A	C	18	36138870	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.A521C:p.D174A;ELP2:NM_018255:exon5:c.A521C:p.D174A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.A74C:p.D25A;ENSG00000134759:ENST00000442325:exon5:c.A521C:p.D174A;ENSG00000134759:ENST00000358232:exon5:c.A521C:p.D174A;ENSG00000134759:ENST00000539560:exon5:c.A521C:p.D174A;	0.00116954381437899	0.016
18	33718833	A	G	18	36138870	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.A521G:p.D174G;ELP2:NM_018255:exon5:c.A521G:p.D174G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.A74G:p.D25G;ENSG00000134759:ENST00000442325:exon5:c.A521G:p.D174G;ENSG00000134759:ENST00000358232:exon5:c.A521G:p.D174G;ENSG00000134759:ENST00000539560:exon5:c.A521G:p.D174G;	0.00852195645636253	0.124
18	33718833	A	T	18	36138870	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.A521T:p.D174V;ELP2:NM_018255:exon5:c.A521T:p.D174V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.A74T:p.D25V;ENSG00000134759:ENST00000442325:exon5:c.A521T:p.D174V;ENSG00000134759:ENST00000358232:exon5:c.A521T:p.D174V;ENSG00000134759:ENST00000539560:exon5:c.A521T:p.D174V;	0.13561145810403	0.25
18	33718834	T	A	18	36138871	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.T522A:p.D174E;ELP2:NM_018255:exon5:c.T522A:p.D174E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.T75A:p.D25E;ENSG00000134759:ENST00000442325:exon5:c.T522A:p.D174E;ENSG00000134759:ENST00000358232:exon5:c.T522A:p.D174E;ENSG00000134759:ENST00000539560:exon5:c.T522A:p.D174E;	2.00670081147338E-4	0.13
18	33718834	T	C	18	36138871	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon5:c.T522C:p.D174D;ELP2:NM_018255:exon5:c.T522C:p.D174D;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.T75C:p.D25D;ENSG00000134759:ENST00000442325:exon5:c.T522C:p.D174D;ENSG00000134759:ENST00000358232:exon5:c.T522C:p.D174D;ENSG00000134759:ENST00000539560:exon5:c.T522C:p.D174D;	0.00175203115687743	0.116
18	33718834	T	G	18	36138871	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.T522G:p.D174E;ELP2:NM_018255:exon5:c.T522G:p.D174E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.T75G:p.D25E;ENSG00000134759:ENST00000442325:exon5:c.T522G:p.D174E;ENSG00000134759:ENST00000358232:exon5:c.T522G:p.D174E;ENSG00000134759:ENST00000539560:exon5:c.T522G:p.D174E;	4.13516148902316E-4	0.016
18	33718835	G	A	18	36138872	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.G523A:p.V175I;ELP2:NM_018255:exon5:c.G523A:p.V175I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.G76A:p.V26I;ENSG00000134759:ENST00000442325:exon5:c.G523A:p.V175I;ENSG00000134759:ENST00000358232:exon5:c.G523A:p.V175I;ENSG00000134759:ENST00000539560:exon5:c.G523A:p.V175I;	0.995423736125687	0.946
18	33718835	G	C	18	36138872	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.G523C:p.V175L;ELP2:NM_018255:exon5:c.G523C:p.V175L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.G76C:p.V26L;ENSG00000134759:ENST00000442325:exon5:c.G523C:p.V175L;ENSG00000134759:ENST00000358232:exon5:c.G523C:p.V175L;ENSG00000134759:ENST00000539560:exon5:c.G523C:p.V175L;	0.996231548401929	0.716
18	33718835	G	T	18	36138872	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon5:c.G523T:p.V175F;ELP2:NM_018255:exon5:c.G523T:p.V175L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000543127:exon5:c.G76T:p.V26L;ENSG00000134759:ENST00000442325:exon5:c.G523T:p.V175F;ENSG00000134759:ENST00000358232:exon5:c.G523T:p.V175L;ENSG00000134759:ENST00000539560:exon5:c.G523T:p.V175L;	0.984846531005465	0.796
18	33718836	G	A	18	36138873	y	y	splicing	ELP2(NM_001242875:exon5:c.523+1G>A;NM_018255:exon5:c.523+1G>A)	.	.	splicing	ENSG00000134759(ENST00000543127:exon5:c.76+1G>A;ENST00000358232:exon5:c.523+1G>A;ENST00000544267:exon4:c.444+1G>A;ENST00000442325:exon5:c.523+1G>A;ENST00000539560:exon5:c.523+1G>A;ENST00000542430:exon5:c.498+1G>A)	.	.	0.999985532734767	0.936
18	33718836	G	C	18	36138873	y	y	splicing	ELP2(NM_001242875:exon5:c.523+1G>C;NM_018255:exon5:c.523+1G>C)	.	.	splicing	ENSG00000134759(ENST00000543127:exon5:c.76+1G>C;ENST00000358232:exon5:c.523+1G>C;ENST00000544267:exon4:c.444+1G>C;ENST00000442325:exon5:c.523+1G>C;ENST00000539560:exon5:c.523+1G>C;ENST00000542430:exon5:c.498+1G>C)	.	.	0.999985532734767	0.936
18	33718836	G	T	18	36138873	y	y	splicing	ELP2(NM_001242875:exon5:c.523+1G>T;NM_018255:exon5:c.523+1G>T)	.	.	splicing	ENSG00000134759(ENST00000543127:exon5:c.76+1G>T;ENST00000358232:exon5:c.523+1G>T;ENST00000544267:exon4:c.444+1G>T;ENST00000442325:exon5:c.523+1G>T;ENST00000539560:exon5:c.523+1G>T;ENST00000542430:exon5:c.498+1G>T)	.	.	0.999985532734767	0.936
18	33718837	T	A	18	36138874	y	y	splicing	ELP2(NM_001242875:exon5:c.523+2T>A;NM_018255:exon5:c.523+2T>A)	.	.	splicing	ENSG00000134759(ENST00000543127:exon5:c.76+2T>A;ENST00000358232:exon5:c.523+2T>A;ENST00000544267:exon4:c.444+2T>A;ENST00000442325:exon5:c.523+2T>A;ENST00000539560:exon5:c.523+2T>A;ENST00000542430:exon5:c.498+2T>A)	.	.	0.999988247793601	0.926
18	33718837	T	C	18	36138874	y	y	splicing	ELP2(NM_001242875:exon5:c.523+2T>C;NM_018255:exon5:c.523+2T>C)	.	.	splicing	ENSG00000134759(ENST00000543127:exon5:c.76+2T>C;ENST00000358232:exon5:c.523+2T>C;ENST00000544267:exon4:c.444+2T>C;ENST00000442325:exon5:c.523+2T>C;ENST00000539560:exon5:c.523+2T>C;ENST00000542430:exon5:c.498+2T>C)	.	.	0.999929727175276	0.866
18	33718837	T	G	18	36138874	y	y	splicing	ELP2(NM_001242875:exon5:c.523+2T>G;NM_018255:exon5:c.523+2T>G)	.	.	splicing	ENSG00000134759(ENST00000543127:exon5:c.76+2T>G;ENST00000358232:exon5:c.523+2T>G;ENST00000544267:exon4:c.444+2T>G;ENST00000442325:exon5:c.523+2T>G;ENST00000539560:exon5:c.523+2T>G;ENST00000542430:exon5:c.498+2T>G)	.	.	0.999988247793601	0.926
18	33718838	G	A	18	36138875	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00231835446681598	0.118
18	33718838	G	C	18	36138875	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.993421721271818	0.852
18	33718838	G	T	18	36138875	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.711014084168565	0.698
18	33718839	A	C	18	36138876	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995950909793853	0.902
18	33718839	A	G	18	36138876	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997862314243657	0.952
18	33718839	A	T	18	36138876	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998436855831128	0.924
18	33718840	G	A	18	36138877	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999764589700532	0.97
18	33718840	G	C	18	36138877	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999940724286051	0.978
18	33718840	G	T	18	36138877	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99970046161931	0.918
18	33718841	T	A	18	36138878	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.993398115756689	0.798
18	33718841	T	C	18	36138878	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.97332083763805	0.708
18	33718841	T	G	18	36138878	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.994879463975606	0.792
18	33718842	A	C	18	36138879	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.08694755968719E-4	0.012
18	33718842	A	G	18	36138879	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.01953387074891E-5	0.012
18	33718842	A	T	18	36138879	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.00493100906919E-4	0.056
18	33718843	T	A	18	36138880	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.05446895406687E-5	0.002
18	33718843	T	C	18	36138880	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.05446895406687E-5	0.0
18	33718843	T	G	18	36138880	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.34184528897689E-5	0.0
18	33719370	T	A	18	36139407	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.33815804894828E-5	0.0
18	33719370	T	C	18	36139407	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.24975915077222E-5	0.0
18	33719370	T	G	18	36139407	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.33815804894828E-5	0.0
18	33719371	T	A	18	36139408	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00227905126559508	0.028
18	33719371	T	C	18	36139408	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00225473075344595	0.044
18	33719371	T	G	18	36139408	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00225473075344595	0.028
18	33719372	G	A	18	36139409	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.69930370103191E-5	0.0
18	33719372	G	C	18	36139409	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.57076726553018E-5	0.0
18	33719372	G	T	18	36139409	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.57076726553018E-5	0.0
18	33719373	C	A	18	36139410	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.21557472225283E-5	0.0
18	33719373	C	G	18	36139410	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.21557472225283E-5	0.0
18	33719373	C	T	18	36139410	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.21557472225283E-5	0.0
18	33719374	C	A	18	36139411	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.7749166663215E-5	0.002
18	33719374	C	G	18	36139411	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.7749166663215E-5	0.0
18	33719374	C	T	18	36139411	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.7749166663215E-5	0.014
18	33719375	T	A	18	36139412	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.67738868662274E-5	0.0
18	33719375	T	C	18	36139412	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.08593451297961E-5	0.012
18	33719375	T	G	18	36139412	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.08593451297961E-5	0.016
18	33719376	C	A	18	36139413	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.80650664972837E-4	0.008
18	33719376	C	G	18	36139413	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.80650664972837E-4	0.004
18	33719376	C	T	18	36139413	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.80650664972837E-4	0.002
18	33719377	C	A	18	36139414	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.29994972594758E-5	0.008
18	33719377	C	G	18	36139414	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.29994972594758E-5	0.006
18	33719377	C	T	18	36139414	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.29994972594758E-5	0.026
18	33719378	A	C	18	36139415	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.552751562108E-5	0.006
18	33719378	A	G	18	36139415	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.552751562108E-5	0.006
18	33719378	A	T	18	36139415	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.552751562108E-5	0.008
18	33719379	C	A	18	36139416	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.06619588578661E-5	0.01
18	33719379	C	G	18	36139416	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.36187558740154E-5	0.004
18	33719379	C	T	18	36139416	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.06619588578661E-5	0.008
18	33719380	A	C	18	36139417	y	y	splicing	ELP2(NM_001242875:exon6:c.524-2A>C;NM_001242876:exon5:c.446-2A>C)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.524-2A>C;ENST00000350494:exon5:c.446-2A>C)	.	.	4.54717026264154E-5	0.0
18	33719380	A	G	18	36139417	y	y	splicing	ELP2(NM_001242875:exon6:c.524-2A>G;NM_001242876:exon5:c.446-2A>G)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.524-2A>G;ENST00000350494:exon5:c.446-2A>G)	.	.	4.54717026264154E-5	0.0
18	33719380	A	T	18	36139417	y	y	splicing	ELP2(NM_001242875:exon6:c.524-2A>T;NM_001242876:exon5:c.446-2A>T)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.524-2A>T;ENST00000350494:exon5:c.446-2A>T)	.	.	4.54717026264154E-5	0.0
18	33719381	G	A	18	36139418	y	y	splicing	ELP2(NM_001242875:exon6:c.524-1G>A;NM_001242876:exon5:c.446-1G>A)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.524-1G>A;ENST00000350494:exon5:c.446-1G>A)	.	.	6.08692400722682E-5	0.0
18	33719381	G	C	18	36139418	y	y	splicing	ELP2(NM_001242875:exon6:c.524-1G>C;NM_001242876:exon5:c.446-1G>C)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.524-1G>C;ENST00000350494:exon5:c.446-1G>C)	.	.	6.08692400722682E-5	0.0
18	33719381	G	T	18	36139418	y	y	splicing	ELP2(NM_001242875:exon6:c.524-1G>T;NM_001242876:exon5:c.446-1G>T)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.524-1G>T;ENST00000350494:exon5:c.446-1G>T)	.	.	6.08692400722682E-5	0.0
18	33719382	T	A	18	36139419	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.T524A:p.V175D;ELP2:NM_001242876:exon5:c.T446A:p.V149D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.T524A:p.V175D;ENSG00000134759:ENST00000350494:exon5:c.T446A:p.V149D;	5.04912830756687E-4	0.01
18	33719382	T	C	18	36139419	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.T524C:p.V175A;ELP2:NM_001242876:exon5:c.T446C:p.V149A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.T524C:p.V175A;ENSG00000134759:ENST00000350494:exon5:c.T446C:p.V149A;	6.65984055367514E-5	0.022
18	33719382	T	G	18	36139419	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.T524G:p.V175G;ELP2:NM_001242876:exon5:c.T446G:p.V149G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.T524G:p.V175G;ENSG00000134759:ENST00000350494:exon5:c.T446G:p.V149G;	1.23555218938291E-4	0.016
18	33719383	T	A	18	36139420	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon6:c.T525A:p.V175V;ELP2:NM_001242876:exon5:c.T447A:p.V149V;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.T525A:p.V175V;ENSG00000134759:ENST00000350494:exon5:c.T447A:p.V149V;	5.86075475573093E-5	0.0
18	33719383	T	C	18	36139420	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon6:c.T525C:p.V175V;ELP2:NM_001242876:exon5:c.T447C:p.V149V;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.T525C:p.V175V;ENSG00000134759:ENST00000350494:exon5:c.T447C:p.V149V;	5.86075475573093E-5	0.0
18	33719383	T	G	18	36139420	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon6:c.T525G:p.V175V;ELP2:NM_001242876:exon5:c.T447G:p.V149V;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.T525G:p.V175V;ENSG00000134759:ENST00000350494:exon5:c.T447G:p.V149V;	5.86075475573093E-5	0.0
18	33719574	C	A	18	36139611	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.C716A:p.P239Q;ELP2:NM_001242876:exon5:c.C638A:p.P213Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.C716A:p.P239Q;ENSG00000134759:ENST00000350494:exon5:c.C638A:p.P213Q;	1.11393156722139E-4	0.082
18	33719574	C	G	18	36139611	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.C716G:p.P239R;ELP2:NM_001242876:exon5:c.C638G:p.P213R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.C716G:p.P239R;ENSG00000134759:ENST00000350494:exon5:c.C638G:p.P213R;	1.11393156722139E-4	0.082
18	33719574	C	T	18	36139611	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.C716T:p.P239L;ELP2:NM_001242876:exon5:c.C638T:p.P213L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.C716T:p.P239L;ENSG00000134759:ENST00000350494:exon5:c.C638T:p.P213L;	1.97714972400462E-4	0.044
18	33719575	A	C	18	36139612	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon6:c.A717C:p.P239P;ELP2:NM_001242876:exon5:c.A639C:p.P213P;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.A717C:p.P239P;ENSG00000134759:ENST00000350494:exon5:c.A639C:p.P213P;	6.78684081159298E-5	0.002
18	33719575	A	G	18	36139612	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon6:c.A717G:p.P239P;ELP2:NM_001242876:exon5:c.A639G:p.P213P;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.A717G:p.P239P;ENSG00000134759:ENST00000350494:exon5:c.A639G:p.P213P;	6.78684081159298E-5	0.002
18	33719575	A	T	18	36139612	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon6:c.A717T:p.P239P;ELP2:NM_001242876:exon5:c.A639T:p.P213P;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.A717T:p.P239P;ENSG00000134759:ENST00000350494:exon5:c.A639T:p.P213P;	3.09395893123295E-5	0.002
18	33719576	A	C	18	36139613	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.A718C:p.I240L;ELP2:NM_001242876:exon5:c.A640C:p.I214L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.A718C:p.I240L;ENSG00000134759:ENST00000350494:exon5:c.A640C:p.I214L;	1.63995423123284E-4	0.0
18	33719576	A	G	18	36139613	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.A718G:p.I240V;ELP2:NM_001242876:exon5:c.A640G:p.I214V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.A718G:p.I240V;ENSG00000134759:ENST00000350494:exon5:c.A640G:p.I214V;	1.61205237472919E-5	0.028
18	33719576	A	T	18	36139613	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon6:c.A718T:p.I240L;ELP2:NM_001242876:exon5:c.A640T:p.I214L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon6:c.A718T:p.I240L;ENSG00000134759:ENST00000350494:exon5:c.A640T:p.I214L;	1.61228075999277E-4	0.0
18	33719577	G	A	18	36139614	y	y	splicing	ELP2(NM_001242875:exon6:c.718+1G>A;NM_001242876:exon5:c.640+1G>A)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.718+1G>A;ENST00000350494:exon5:c.640+1G>A)	.	.	6.89210916601576E-5	0.0
18	33719577	G	C	18	36139614	y	y	splicing	ELP2(NM_001242875:exon6:c.718+1G>C;NM_001242876:exon5:c.640+1G>C)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.718+1G>C;ENST00000350494:exon5:c.640+1G>C)	.	.	6.89210916601576E-5	0.0
18	33719577	G	T	18	36139614	y	y	splicing	ELP2(NM_001242875:exon6:c.718+1G>T;NM_001242876:exon5:c.640+1G>T)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.718+1G>T;ENST00000350494:exon5:c.640+1G>T)	.	.	6.89210916601576E-5	0.0
18	33719578	T	A	18	36139615	y	y	splicing	ELP2(NM_001242875:exon6:c.718+2T>A;NM_001242876:exon5:c.640+2T>A)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.718+2T>A;ENST00000350494:exon5:c.640+2T>A)	.	.	2.256915070725E-5	0.0
18	33719578	T	C	18	36139615	y	y	splicing	ELP2(NM_001242875:exon6:c.718+2T>C;NM_001242876:exon5:c.640+2T>C)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.718+2T>C;ENST00000350494:exon5:c.640+2T>C)	.	.	2.256915070725E-5	0.0
18	33719578	T	G	18	36139615	y	y	splicing	ELP2(NM_001242875:exon6:c.718+2T>G;NM_001242876:exon5:c.640+2T>G)	.	.	splicing	ENSG00000134759(ENST00000442325:exon6:c.718+2T>G;ENST00000350494:exon5:c.640+2T>G)	.	.	2.256915070725E-5	0.0
18	33719579	G	A	18	36139616	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.88014054966508E-5	0.0
18	33719579	G	C	18	36139616	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.88014054966508E-5	0.0
18	33719579	G	T	18	36139616	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.88014054966508E-5	0.0
18	33719580	A	C	18	36139617	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.3994564522384E-5	0.02
18	33719580	A	G	18	36139617	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.3994564522384E-5	0.02
18	33719580	A	T	18	36139617	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.3994564522384E-5	0.014
18	33719581	C	A	18	36139618	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.68952365742707E-5	0.002
18	33719581	C	G	18	36139618	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.68952365742707E-5	0.014
18	33719581	C	T	18	36139618	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.68952365742707E-5	0.002
18	33719582	T	A	18	36139619	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.78684081159298E-5	0.002
18	33719582	T	C	18	36139619	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.78684081159298E-5	0.004
18	33719582	T	G	18	36139619	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.78684081159298E-5	0.004
18	33719583	G	A	18	36139620	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.78205327723092E-5	0.004
18	33719583	G	C	18	36139620	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.31929338280547E-5	0.0
18	33719583	G	T	18	36139620	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.31929338280547E-5	0.004
18	33719584	G	A	18	36139621	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.82685551969961E-5	0.026
18	33719584	G	C	18	36139621	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.82685551969961E-5	0.06
18	33719584	G	T	18	36139621	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.82685551969961E-5	0.026
18	33721088	T	A	18	36141125	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.87510978498332E-4	0.1
18	33721088	T	C	18	36141125	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.93521493586329E-5	0.006
18	33721088	T	G	18	36141125	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.7475441574941E-4	0.134
18	33721089	T	A	18	36141126	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00187994058711234	0.168
18	33721089	T	C	18	36141126	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.94146160108661E-5	0.036
18	33721089	T	G	18	36141126	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0014207832983307	0.17
18	33721090	C	A	18	36141127	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.38822532294569E-4	0.026
18	33721090	C	G	18	36141127	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.95061056545724E-4	0.008
18	33721090	C	T	18	36141127	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.35151944711536E-6	0.01
18	33721091	T	A	18	36141128	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0286219367418277	0.124
18	33721091	T	C	18	36141128	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00109801435540535	0.016
18	33721091	T	G	18	36141128	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0154112509156858	0.104
18	33721092	T	A	18	36141129	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00221049870018412	0.086
18	33721092	T	C	18	36141129	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.01753469768418E-4	0.016
18	33721092	T	G	18	36141129	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00217583277264586	0.086
18	33721093	C	A	18	36141130	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.46811616542437E-4	0.044
18	33721093	C	G	18	36141130	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.61132023005184E-4	0.042
18	33721093	C	T	18	36141130	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.13268427859257E-5	0.0
18	33721094	C	A	18	36141131	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00170897571923643	0.102
18	33721094	C	G	18	36141131	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0137517922201923	0.142
18	33721094	C	T	18	36141131	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.27334427452127E-5	0.014
18	33721095	C	A	18	36141132	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00263185776509715	0.128
18	33721095	C	G	18	36141132	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00441333619684266	0.228
18	33721095	C	T	18	36141132	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.17682385863891E-4	0.01
18	33721096	C	A	18	36141133	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.89686207423632E-5	0.002
18	33721096	C	G	18	36141133	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.19981500912203E-5	0.01
18	33721096	C	T	18	36141133	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.57946885854745E-4	0.014
18	33721097	C	A	18	36141134	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.983390675819517	0.602
18	33721097	C	G	18	36141134	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999741309363045	0.966
18	33721097	C	T	18	36141134	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00228324830949668	0.026
18	33721098	A	C	18	36141135	y	y	splicing	ELP2(NM_001242875:exon7:c.719-2A>C;NM_001242876:exon6:c.641-2A>C;NM_018255:exon6:c.524-2A>C;NM_001242878:exon5:c.446-2A>C;NM_001242877:exon5:c.446-2A>C)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.77-2A>C;ENST00000358232:exon6:c.524-2A>C;ENST00000544267:exon5:c.445-2A>C;ENST00000351393:exon5:c.446-2A>C;ENST00000545632:exon4:c.367-2A>C;ENST00000442325:exon7:c.719-2A>C;ENST00000539560:exon6:c.524-2A>C;ENST00000542430:exon6:c.499-2A>C;ENST00000350494:exon6:c.641-2A>C;ENST00000542824:exon5:c.446-2A>C)	.	.	0.999978952611685	0.926
18	33721098	A	G	18	36141135	y	y	splicing	ELP2(NM_001242875:exon7:c.719-2A>G;NM_001242876:exon6:c.641-2A>G;NM_018255:exon6:c.524-2A>G;NM_001242878:exon5:c.446-2A>G;NM_001242877:exon5:c.446-2A>G)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.77-2A>G;ENST00000358232:exon6:c.524-2A>G;ENST00000544267:exon5:c.445-2A>G;ENST00000351393:exon5:c.446-2A>G;ENST00000545632:exon4:c.367-2A>G;ENST00000442325:exon7:c.719-2A>G;ENST00000539560:exon6:c.524-2A>G;ENST00000542430:exon6:c.499-2A>G;ENST00000350494:exon6:c.641-2A>G;ENST00000542824:exon5:c.446-2A>G)	.	.	0.999970661931818	0.926
18	33721098	A	T	18	36141135	y	y	splicing	ELP2(NM_001242875:exon7:c.719-2A>T;NM_001242876:exon6:c.641-2A>T;NM_018255:exon6:c.524-2A>T;NM_001242878:exon5:c.446-2A>T;NM_001242877:exon5:c.446-2A>T)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.77-2A>T;ENST00000358232:exon6:c.524-2A>T;ENST00000544267:exon5:c.445-2A>T;ENST00000351393:exon5:c.446-2A>T;ENST00000545632:exon4:c.367-2A>T;ENST00000442325:exon7:c.719-2A>T;ENST00000539560:exon6:c.524-2A>T;ENST00000542430:exon6:c.499-2A>T;ENST00000350494:exon6:c.641-2A>T;ENST00000542824:exon5:c.446-2A>T)	.	.	0.999978952611685	0.928
18	33721099	G	A	18	36141136	y	y	splicing	ELP2(NM_001242875:exon7:c.719-1G>A;NM_001242876:exon6:c.641-1G>A;NM_018255:exon6:c.524-1G>A;NM_001242878:exon5:c.446-1G>A;NM_001242877:exon5:c.446-1G>A)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.77-1G>A;ENST00000358232:exon6:c.524-1G>A;ENST00000544267:exon5:c.445-1G>A;ENST00000351393:exon5:c.446-1G>A;ENST00000545632:exon4:c.367-1G>A;ENST00000442325:exon7:c.719-1G>A;ENST00000539560:exon6:c.524-1G>A;ENST00000542430:exon6:c.499-1G>A;ENST00000350494:exon6:c.641-1G>A;ENST00000542824:exon5:c.446-1G>A)	.	.	0.999985532734767	0.938
18	33721099	G	C	18	36141136	y	y	splicing	ELP2(NM_001242875:exon7:c.719-1G>C;NM_001242876:exon6:c.641-1G>C;NM_018255:exon6:c.524-1G>C;NM_001242878:exon5:c.446-1G>C;NM_001242877:exon5:c.446-1G>C)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.77-1G>C;ENST00000358232:exon6:c.524-1G>C;ENST00000544267:exon5:c.445-1G>C;ENST00000351393:exon5:c.446-1G>C;ENST00000545632:exon4:c.367-1G>C;ENST00000442325:exon7:c.719-1G>C;ENST00000539560:exon6:c.524-1G>C;ENST00000542430:exon6:c.499-1G>C;ENST00000350494:exon6:c.641-1G>C;ENST00000542824:exon5:c.446-1G>C)	.	.	0.999974090184857	0.936
18	33721099	G	T	18	36141136	y	y	splicing	ELP2(NM_001242875:exon7:c.719-1G>T;NM_001242876:exon6:c.641-1G>T;NM_018255:exon6:c.524-1G>T;NM_001242878:exon5:c.446-1G>T;NM_001242877:exon5:c.446-1G>T)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.77-1G>T;ENST00000358232:exon6:c.524-1G>T;ENST00000544267:exon5:c.445-1G>T;ENST00000351393:exon5:c.446-1G>T;ENST00000545632:exon4:c.367-1G>T;ENST00000442325:exon7:c.719-1G>T;ENST00000539560:exon6:c.524-1G>T;ENST00000542430:exon6:c.499-1G>T;ENST00000350494:exon6:c.641-1G>T;ENST00000542824:exon5:c.446-1G>T)	.	.	0.999985532734767	0.938
18	33721100	T	A	18	36141137	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.T719A:p.I240K;ELP2:NM_001242878:exon5:c.T446A:p.V149E;ELP2:NM_018255:exon6:c.T524A:p.V175E;ELP2:NM_001242876:exon6:c.T641A:p.I214K;ELP2:NM_001242877:exon5:c.T446A:p.V149E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.T446A:p.V149E;ENSG00000134759:ENST00000543127:exon6:c.T77A:p.V26E;ENSG00000134759:ENST00000351393:exon5:c.T446A:p.V149E;ENSG00000134759:ENST00000442325:exon7:c.T719A:p.I240K;ENSG00000134759:ENST00000350494:exon6:c.T641A:p.I214K;ENSG00000134759:ENST00000358232:exon6:c.T524A:p.V175E;ENSG00000134759:ENST00000539560:exon6:c.T524A:p.V175E;	0.00105576049395006	0.088
18	33721100	T	C	18	36141137	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.T719C:p.I240T;ELP2:NM_001242878:exon5:c.T446C:p.V149A;ELP2:NM_018255:exon6:c.T524C:p.V175A;ELP2:NM_001242876:exon6:c.T641C:p.I214T;ELP2:NM_001242877:exon5:c.T446C:p.V149A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.T446C:p.V149A;ENSG00000134759:ENST00000543127:exon6:c.T77C:p.V26A;ENSG00000134759:ENST00000351393:exon5:c.T446C:p.V149A;ENSG00000134759:ENST00000442325:exon7:c.T719C:p.I240T;ENSG00000134759:ENST00000350494:exon6:c.T641C:p.I214T;ENSG00000134759:ENST00000358232:exon6:c.T524C:p.V175A;ENSG00000134759:ENST00000539560:exon6:c.T524C:p.V175A;	0.00190490108038677	0.076
18	33721100	T	G	18	36141137	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.T719G:p.I240R;ELP2:NM_001242878:exon5:c.T446G:p.V149G;ELP2:NM_018255:exon6:c.T524G:p.V175G;ELP2:NM_001242876:exon6:c.T641G:p.I214R;ELP2:NM_001242877:exon5:c.T446G:p.V149G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.T446G:p.V149G;ENSG00000134759:ENST00000543127:exon6:c.T77G:p.V26G;ENSG00000134759:ENST00000351393:exon5:c.T446G:p.V149G;ENSG00000134759:ENST00000442325:exon7:c.T719G:p.I240R;ENSG00000134759:ENST00000350494:exon6:c.T641G:p.I214R;ENSG00000134759:ENST00000358232:exon6:c.T524G:p.V175G;ENSG00000134759:ENST00000539560:exon6:c.T524G:p.V175G;	6.87517230918052E-4	0.1
18	33721101	A	C	18	36141138	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon7:c.A720C:p.I240I;ELP2:NM_001242878:exon5:c.A447C:p.V149V;ELP2:NM_018255:exon6:c.A525C:p.V175V;ELP2:NM_001242876:exon6:c.A642C:p.I214I;ELP2:NM_001242877:exon5:c.A447C:p.V149V;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.A447C:p.V149V;ENSG00000134759:ENST00000543127:exon6:c.A78C:p.V26V;ENSG00000134759:ENST00000351393:exon5:c.A447C:p.V149V;ENSG00000134759:ENST00000442325:exon7:c.A720C:p.I240I;ENSG00000134759:ENST00000350494:exon6:c.A642C:p.I214I;ENSG00000134759:ENST00000358232:exon6:c.A525C:p.V175V;ENSG00000134759:ENST00000539560:exon6:c.A525C:p.V175V;	1.17897256424835E-4	0.014
18	33721101	A	G	18	36141138	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.A720G:p.I240M;ELP2:NM_001242876:exon6:c.A642G:p.I214M;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000442325:exon7:c.A720G:p.I240M;ENSG00000134759:ENST00000350494:exon6:c.A642G:p.I214M;	2.48262887517945E-5	0.022
18	33721101	A	T	18	36141138	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon7:c.A720T:p.I240I;ELP2:NM_001242878:exon5:c.A447T:p.V149V;ELP2:NM_018255:exon6:c.A525T:p.V175V;ELP2:NM_001242876:exon6:c.A642T:p.I214I;ELP2:NM_001242877:exon5:c.A447T:p.V149V;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.A447T:p.V149V;ENSG00000134759:ENST00000543127:exon6:c.A78T:p.V26V;ENSG00000134759:ENST00000351393:exon5:c.A447T:p.V149V;ENSG00000134759:ENST00000442325:exon7:c.A720T:p.I240I;ENSG00000134759:ENST00000350494:exon6:c.A642T:p.I214I;ENSG00000134759:ENST00000358232:exon6:c.A525T:p.V175V;ENSG00000134759:ENST00000539560:exon6:c.A525T:p.V175V;	6.49511143612207E-5	0.002
18	33721162	C	A	18	36141199	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.C781A:p.Q261K;ELP2:NM_001242878:exon5:c.C508A:p.Q170K;ELP2:NM_018255:exon6:c.C586A:p.Q196K;ELP2:NM_001242876:exon6:c.C703A:p.Q235K;ELP2:NM_001242877:exon5:c.C508A:p.Q170K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.C508A:p.Q170K;ENSG00000134759:ENST00000543127:exon6:c.C139A:p.Q47K;ENSG00000134759:ENST00000351393:exon5:c.C508A:p.Q170K;ENSG00000134759:ENST00000442325:exon7:c.C781A:p.Q261K;ENSG00000134759:ENST00000350494:exon6:c.C703A:p.Q235K;ENSG00000134759:ENST00000358232:exon6:c.C586A:p.Q196K;ENSG00000134759:ENST00000539560:exon6:c.C586A:p.Q196K;	0.0010729460414641	0.018
18	33721162	C	G	18	36141199	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.C781G:p.Q261E;ELP2:NM_001242878:exon5:c.C508G:p.Q170E;ELP2:NM_018255:exon6:c.C586G:p.Q196E;ELP2:NM_001242876:exon6:c.C703G:p.Q235E;ELP2:NM_001242877:exon5:c.C508G:p.Q170E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.C508G:p.Q170E;ENSG00000134759:ENST00000543127:exon6:c.C139G:p.Q47E;ENSG00000134759:ENST00000351393:exon5:c.C508G:p.Q170E;ENSG00000134759:ENST00000442325:exon7:c.C781G:p.Q261E;ENSG00000134759:ENST00000350494:exon6:c.C703G:p.Q235E;ENSG00000134759:ENST00000358232:exon6:c.C586G:p.Q196E;ENSG00000134759:ENST00000539560:exon6:c.C586G:p.Q196E;	0.00363312592903873	0.052
18	33721162	C	T	18	36141199	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242875:exon7:c.C781T:p.Q261X;ELP2:NM_001242878:exon5:c.C508T:p.Q170X;ELP2:NM_018255:exon6:c.C586T:p.Q196X;ELP2:NM_001242876:exon6:c.C703T:p.Q235X;ELP2:NM_001242877:exon5:c.C508T:p.Q170X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon5:c.C508T:p.Q170X;ENSG00000134759:ENST00000543127:exon6:c.C139T:p.Q47X;ENSG00000134759:ENST00000351393:exon5:c.C508T:p.Q170X;ENSG00000134759:ENST00000442325:exon7:c.C781T:p.Q261X;ENSG00000134759:ENST00000350494:exon6:c.C703T:p.Q235X;ENSG00000134759:ENST00000358232:exon6:c.C586T:p.Q196X;ENSG00000134759:ENST00000539560:exon6:c.C586T:p.Q196X;	0.89843361129182	0.636
18	33721163	A	C	18	36141200	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.A782C:p.Q261P;ELP2:NM_001242878:exon5:c.A509C:p.Q170P;ELP2:NM_018255:exon6:c.A587C:p.Q196P;ELP2:NM_001242876:exon6:c.A704C:p.Q235P;ELP2:NM_001242877:exon5:c.A509C:p.Q170P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.A509C:p.Q170P;ENSG00000134759:ENST00000543127:exon6:c.A140C:p.Q47P;ENSG00000134759:ENST00000351393:exon5:c.A509C:p.Q170P;ENSG00000134759:ENST00000442325:exon7:c.A782C:p.Q261P;ENSG00000134759:ENST00000350494:exon6:c.A704C:p.Q235P;ENSG00000134759:ENST00000358232:exon6:c.A587C:p.Q196P;ENSG00000134759:ENST00000539560:exon6:c.A587C:p.Q196P;	0.995424888425708	0.852
18	33721163	A	G	18	36141200	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.A782G:p.Q261R;ELP2:NM_001242878:exon5:c.A509G:p.Q170R;ELP2:NM_018255:exon6:c.A587G:p.Q196R;ELP2:NM_001242876:exon6:c.A704G:p.Q235R;ELP2:NM_001242877:exon5:c.A509G:p.Q170R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.A509G:p.Q170R;ENSG00000134759:ENST00000543127:exon6:c.A140G:p.Q47R;ENSG00000134759:ENST00000351393:exon5:c.A509G:p.Q170R;ENSG00000134759:ENST00000442325:exon7:c.A782G:p.Q261R;ENSG00000134759:ENST00000350494:exon6:c.A704G:p.Q235R;ENSG00000134759:ENST00000358232:exon6:c.A587G:p.Q196R;ENSG00000134759:ENST00000539560:exon6:c.A587G:p.Q196R;	0.994329243158522	0.882
18	33721163	A	T	18	36141200	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.A782T:p.Q261L;ELP2:NM_001242878:exon5:c.A509T:p.Q170L;ELP2:NM_018255:exon6:c.A587T:p.Q196L;ELP2:NM_001242876:exon6:c.A704T:p.Q235L;ELP2:NM_001242877:exon5:c.A509T:p.Q170L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.A509T:p.Q170L;ENSG00000134759:ENST00000543127:exon6:c.A140T:p.Q47L;ENSG00000134759:ENST00000351393:exon5:c.A509T:p.Q170L;ENSG00000134759:ENST00000442325:exon7:c.A782T:p.Q261L;ENSG00000134759:ENST00000350494:exon6:c.A704T:p.Q235L;ENSG00000134759:ENST00000358232:exon6:c.A587T:p.Q196L;ENSG00000134759:ENST00000539560:exon6:c.A587T:p.Q196L;	0.999524093877639	0.948
18	33721164	G	A	18	36141201	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon7:c.G783A:p.Q261Q;ELP2:NM_001242878:exon5:c.G510A:p.Q170Q;ELP2:NM_018255:exon6:c.G588A:p.Q196Q;ELP2:NM_001242876:exon6:c.G705A:p.Q235Q;ELP2:NM_001242877:exon5:c.G510A:p.Q170Q;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.G510A:p.Q170Q;ENSG00000134759:ENST00000543127:exon6:c.G141A:p.Q47Q;ENSG00000134759:ENST00000351393:exon5:c.G510A:p.Q170Q;ENSG00000134759:ENST00000442325:exon7:c.G783A:p.Q261Q;ENSG00000134759:ENST00000350494:exon6:c.G705A:p.Q235Q;ENSG00000134759:ENST00000358232:exon6:c.G588A:p.Q196Q;ENSG00000134759:ENST00000539560:exon6:c.G588A:p.Q196Q;	0.999980254478702	0.998
18	33721164	G	C	18	36141201	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.G783C:p.Q261H;ELP2:NM_001242878:exon5:c.G510C:p.Q170H;ELP2:NM_018255:exon6:c.G588C:p.Q196H;ELP2:NM_001242876:exon6:c.G705C:p.Q235H;ELP2:NM_001242877:exon5:c.G510C:p.Q170H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.G510C:p.Q170H;ENSG00000134759:ENST00000543127:exon6:c.G141C:p.Q47H;ENSG00000134759:ENST00000351393:exon5:c.G510C:p.Q170H;ENSG00000134759:ENST00000442325:exon7:c.G783C:p.Q261H;ENSG00000134759:ENST00000350494:exon6:c.G705C:p.Q235H;ENSG00000134759:ENST00000358232:exon6:c.G588C:p.Q196H;ENSG00000134759:ENST00000539560:exon6:c.G588C:p.Q196H;	0.999997700871535	1.0
18	33721164	G	T	18	36141201	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon7:c.G783T:p.Q261H;ELP2:NM_001242878:exon5:c.G510T:p.Q170H;ELP2:NM_018255:exon6:c.G588T:p.Q196H;ELP2:NM_001242876:exon6:c.G705T:p.Q235H;ELP2:NM_001242877:exon5:c.G510T:p.Q170H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon5:c.G510T:p.Q170H;ENSG00000134759:ENST00000543127:exon6:c.G141T:p.Q47H;ENSG00000134759:ENST00000351393:exon5:c.G510T:p.Q170H;ENSG00000134759:ENST00000442325:exon7:c.G783T:p.Q261H;ENSG00000134759:ENST00000350494:exon6:c.G705T:p.Q235H;ENSG00000134759:ENST00000358232:exon6:c.G588T:p.Q196H;ENSG00000134759:ENST00000539560:exon6:c.G588T:p.Q196H;	0.99999006121748	1.0
18	33721165	G	A	18	36141202	y	y	splicing	ELP2(NM_001242875:exon7:c.783+1G>A;NM_001242876:exon6:c.705+1G>A;NM_018255:exon6:c.588+1G>A;NM_001242878:exon5:c.510+1G>A;NM_001242877:exon5:c.510+1G>A)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.141+1G>A;ENST00000358232:exon6:c.588+1G>A;ENST00000351393:exon5:c.510+1G>A;ENST00000545632:exon4:c.431+1G>A;ENST00000442325:exon7:c.783+1G>A;ENST00000539560:exon6:c.588+1G>A;ENST00000542430:exon6:c.563+1G>A;ENST00000350494:exon6:c.705+1G>A;ENST00000542824:exon5:c.510+1G>A)	.	.	0.999985532734767	0.936
18	33721165	G	C	18	36141202	y	y	splicing	ELP2(NM_001242875:exon7:c.783+1G>C;NM_001242876:exon6:c.705+1G>C;NM_018255:exon6:c.588+1G>C;NM_001242878:exon5:c.510+1G>C;NM_001242877:exon5:c.510+1G>C)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.141+1G>C;ENST00000358232:exon6:c.588+1G>C;ENST00000351393:exon5:c.510+1G>C;ENST00000545632:exon4:c.431+1G>C;ENST00000442325:exon7:c.783+1G>C;ENST00000539560:exon6:c.588+1G>C;ENST00000542430:exon6:c.563+1G>C;ENST00000350494:exon6:c.705+1G>C;ENST00000542824:exon5:c.510+1G>C)	.	.	0.999985532734767	0.936
18	33721165	G	T	18	36141202	y	y	splicing	ELP2(NM_001242875:exon7:c.783+1G>T;NM_001242876:exon6:c.705+1G>T;NM_018255:exon6:c.588+1G>T;NM_001242878:exon5:c.510+1G>T;NM_001242877:exon5:c.510+1G>T)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.141+1G>T;ENST00000358232:exon6:c.588+1G>T;ENST00000351393:exon5:c.510+1G>T;ENST00000545632:exon4:c.431+1G>T;ENST00000442325:exon7:c.783+1G>T;ENST00000539560:exon6:c.588+1G>T;ENST00000542430:exon6:c.563+1G>T;ENST00000350494:exon6:c.705+1G>T;ENST00000542824:exon5:c.510+1G>T)	.	.	0.999985532734767	0.936
18	33721166	T	A	18	36141203	y	y	splicing	ELP2(NM_001242875:exon7:c.783+2T>A;NM_001242876:exon6:c.705+2T>A;NM_018255:exon6:c.588+2T>A;NM_001242878:exon5:c.510+2T>A;NM_001242877:exon5:c.510+2T>A)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.141+2T>A;ENST00000358232:exon6:c.588+2T>A;ENST00000351393:exon5:c.510+2T>A;ENST00000545632:exon4:c.431+2T>A;ENST00000442325:exon7:c.783+2T>A;ENST00000539560:exon6:c.588+2T>A;ENST00000542430:exon6:c.563+2T>A;ENST00000350494:exon6:c.705+2T>A;ENST00000542824:exon5:c.510+2T>A)	.	.	0.999923602592422	0.908
18	33721166	T	C	18	36141203	y	y	splicing	ELP2(NM_001242875:exon7:c.783+2T>C;NM_001242876:exon6:c.705+2T>C;NM_018255:exon6:c.588+2T>C;NM_001242878:exon5:c.510+2T>C;NM_001242877:exon5:c.510+2T>C)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.141+2T>C;ENST00000358232:exon6:c.588+2T>C;ENST00000351393:exon5:c.510+2T>C;ENST00000545632:exon4:c.431+2T>C;ENST00000442325:exon7:c.783+2T>C;ENST00000539560:exon6:c.588+2T>C;ENST00000542430:exon6:c.563+2T>C;ENST00000350494:exon6:c.705+2T>C;ENST00000542824:exon5:c.510+2T>C)	.	.	0.953250594387345	0.576
18	33721166	T	G	18	36141203	y	y	splicing	ELP2(NM_001242875:exon7:c.783+2T>G;NM_001242876:exon6:c.705+2T>G;NM_018255:exon6:c.588+2T>G;NM_001242878:exon5:c.510+2T>G;NM_001242877:exon5:c.510+2T>G)	.	.	splicing	ENSG00000134759(ENST00000543127:exon6:c.141+2T>G;ENST00000358232:exon6:c.588+2T>G;ENST00000351393:exon5:c.510+2T>G;ENST00000545632:exon4:c.431+2T>G;ENST00000442325:exon7:c.783+2T>G;ENST00000539560:exon6:c.588+2T>G;ENST00000542430:exon6:c.563+2T>G;ENST00000350494:exon6:c.705+2T>G;ENST00000542824:exon5:c.510+2T>G)	.	.	0.999938221968836	0.896
18	33721167	A	C	18	36141204	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999658185814661	0.916
18	33721167	A	G	18	36141204	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.82003135635255	0.538
18	33721167	A	T	18	36141204	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999767001130584	0.894
18	33721168	A	C	18	36141205	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.485938683788474	0.294
18	33721168	A	G	18	36141205	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.726908227714745	0.482
18	33721168	A	T	18	36141205	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.666611708344334	0.276
18	33721169	T	A	18	36141206	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.14114931930822E-4	0.022
18	33721169	T	C	18	36141206	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.25929429701353E-4	0.01
18	33721169	T	G	18	36141206	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.69501682020067E-4	0.092
18	33721170	A	C	18	36141207	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.57560098508492E-4	0.094
18	33721170	A	G	18	36141207	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.37798766552988E-5	0.0
18	33721170	A	T	18	36141207	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.52580562424367E-5	0.0
18	33721171	A	C	18	36141208	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.4397131142504E-5	0.0
18	33721171	A	G	18	36141208	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.78890319855431E-5	0.0
18	33721171	A	T	18	36141208	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.09007040325251E-4	0.012
18	33721172	T	A	18	36141209	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.92246816991052E-4	0.014
18	33721172	T	C	18	36141209	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.8939934389717E-4	0.056
18	33721172	T	G	18	36141209	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.92246816991052E-4	0.068
18	33722232	T	A	18	36142269	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997602552812108	0.832
18	33722232	T	C	18	36142269	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00145325174216323	0.074
18	33722232	T	G	18	36142269	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.970239655347121	0.664
18	33722233	T	A	18	36142270	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.595439478107585	0.702
18	33722233	T	C	18	36142270	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.023047137987791	0.21
18	33722233	T	G	18	36142270	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.451012934863565	0.664
18	33722234	A	C	18	36142271	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.93790732553491E-4	0.016
18	33722234	A	G	18	36142271	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.68628318277988E-4	0.008
18	33722234	A	T	18	36142271	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.25603123352402E-5	0.006
18	33722235	T	A	18	36142272	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999195557274974	0.882
18	33722235	T	C	18	36142272	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.794403580114081	0.47
18	33722235	T	G	18	36142272	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999962107805285	0.968
18	33722236	C	A	18	36142273	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00534074214499097	0.214
18	33722236	C	G	18	36142273	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00489890939861242	0.218
18	33722236	C	T	18	36142273	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.56868414311394E-5	0.064
18	33722237	T	A	18	36142274	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.965083436764924	0.804
18	33722237	T	C	18	36142274	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00529535736446486	0.15
18	33722237	T	G	18	36142274	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.916131959153448	0.704
18	33722238	T	A	18	36142275	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0490069949465502	0.388
18	33722238	T	C	18	36142275	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.28002360062963E-4	0.124
18	33722238	T	G	18	36142275	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0129514135415988	0.39
18	33722239	A	C	18	36142276	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.32977227249622E-5	0.0
18	33722239	A	G	18	36142276	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.78416112795009E-5	0.0
18	33722239	A	T	18	36142276	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.60342987069694E-5	0.012
18	33722240	C	A	18	36142277	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.12660983575039E-5	0.0
18	33722240	C	G	18	36142277	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.994690163003483	0.98
18	33722240	C	T	18	36142277	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.22357042736335E-5	0.006
18	33722241	T	A	18	36142278	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.414953359169228	0.45
18	33722241	T	C	18	36142278	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00214365608321717	0.084
18	33722241	T	G	18	36142278	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999028357631992	0.844
18	33722242	A	C	18	36142279	y	y	splicing	ELP2(NM_001242875:exon8:c.784-2A>C;NM_001242876:exon7:c.706-2A>C;NM_018255:exon7:c.589-2A>C;NM_001242878:exon6:c.511-2A>C;NM_001242877:exon6:c.511-2A>C)	.	.	splicing	ENSG00000134759(ENST00000543127:exon7:c.142-2A>C;ENST00000358232:exon7:c.589-2A>C;ENST00000351393:exon6:c.511-2A>C;ENST00000545632:exon5:c.432-2A>C;ENST00000442325:exon8:c.784-2A>C;ENST00000539560:exon7:c.589-2A>C;ENST00000542430:exon7:c.564-2A>C;ENST00000350494:exon7:c.706-2A>C;ENST00000542824:exon6:c.511-2A>C)	.	.	0.999988247793601	0.946
18	33722242	A	G	18	36142279	y	y	splicing	ELP2(NM_001242875:exon8:c.784-2A>G;NM_001242876:exon7:c.706-2A>G;NM_018255:exon7:c.589-2A>G;NM_001242878:exon6:c.511-2A>G;NM_001242877:exon6:c.511-2A>G)	.	.	splicing	ENSG00000134759(ENST00000543127:exon7:c.142-2A>G;ENST00000358232:exon7:c.589-2A>G;ENST00000351393:exon6:c.511-2A>G;ENST00000545632:exon5:c.432-2A>G;ENST00000442325:exon8:c.784-2A>G;ENST00000539560:exon7:c.589-2A>G;ENST00000542430:exon7:c.564-2A>G;ENST00000350494:exon7:c.706-2A>G;ENST00000542824:exon6:c.511-2A>G)	.	.	0.999988247793601	0.946
18	33722242	A	T	18	36142279	y	y	splicing	ELP2(NM_001242875:exon8:c.784-2A>T;NM_001242876:exon7:c.706-2A>T;NM_018255:exon7:c.589-2A>T;NM_001242878:exon6:c.511-2A>T;NM_001242877:exon6:c.511-2A>T)	.	.	splicing	ENSG00000134759(ENST00000543127:exon7:c.142-2A>T;ENST00000358232:exon7:c.589-2A>T;ENST00000351393:exon6:c.511-2A>T;ENST00000545632:exon5:c.432-2A>T;ENST00000442325:exon8:c.784-2A>T;ENST00000539560:exon7:c.589-2A>T;ENST00000542430:exon7:c.564-2A>T;ENST00000350494:exon7:c.706-2A>T;ENST00000542824:exon6:c.511-2A>T)	.	.	0.999988247793601	0.946
18	33722243	G	A	18	36142280	y	y	splicing	ELP2(NM_001242875:exon8:c.784-1G>A;NM_001242876:exon7:c.706-1G>A;NM_018255:exon7:c.589-1G>A;NM_001242878:exon6:c.511-1G>A;NM_001242877:exon6:c.511-1G>A)	.	.	splicing	ENSG00000134759(ENST00000543127:exon7:c.142-1G>A;ENST00000358232:exon7:c.589-1G>A;ENST00000351393:exon6:c.511-1G>A;ENST00000545632:exon5:c.432-1G>A;ENST00000442325:exon8:c.784-1G>A;ENST00000539560:exon7:c.589-1G>A;ENST00000542430:exon7:c.564-1G>A;ENST00000350494:exon7:c.706-1G>A;ENST00000542824:exon6:c.511-1G>A)	.	.	0.999986675681007	0.95
18	33722243	G	C	18	36142280	y	y	splicing	ELP2(NM_001242875:exon8:c.784-1G>C;NM_001242876:exon7:c.706-1G>C;NM_018255:exon7:c.589-1G>C;NM_001242878:exon6:c.511-1G>C;NM_001242877:exon6:c.511-1G>C)	.	.	splicing	ENSG00000134759(ENST00000543127:exon7:c.142-1G>C;ENST00000358232:exon7:c.589-1G>C;ENST00000351393:exon6:c.511-1G>C;ENST00000545632:exon5:c.432-1G>C;ENST00000442325:exon8:c.784-1G>C;ENST00000539560:exon7:c.589-1G>C;ENST00000542430:exon7:c.564-1G>C;ENST00000350494:exon7:c.706-1G>C;ENST00000542824:exon6:c.511-1G>C)	.	.	0.999986675681007	0.95
18	33722243	G	T	18	36142280	y	y	splicing	ELP2(NM_001242875:exon8:c.784-1G>T;NM_001242876:exon7:c.706-1G>T;NM_018255:exon7:c.589-1G>T;NM_001242878:exon6:c.511-1G>T;NM_001242877:exon6:c.511-1G>T)	.	.	splicing	ENSG00000134759(ENST00000543127:exon7:c.142-1G>T;ENST00000358232:exon7:c.589-1G>T;ENST00000351393:exon6:c.511-1G>T;ENST00000545632:exon5:c.432-1G>T;ENST00000442325:exon8:c.784-1G>T;ENST00000539560:exon7:c.589-1G>T;ENST00000542430:exon7:c.564-1G>T;ENST00000350494:exon7:c.706-1G>T;ENST00000542824:exon6:c.511-1G>T)	.	.	0.999986675681007	0.95
18	33722244	T	A	18	36142281	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T784A:p.F262I;ELP2:NM_001242878:exon6:c.T511A:p.F171I;ELP2:NM_018255:exon7:c.T589A:p.F197I;ELP2:NM_001242876:exon7:c.T706A:p.F236I;ELP2:NM_001242877:exon6:c.T511A:p.F171I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T511A:p.F171I;ENSG00000134759:ENST00000543127:exon7:c.T142A:p.F48I;ENSG00000134759:ENST00000351393:exon6:c.T511A:p.F171I;ENSG00000134759:ENST00000442325:exon8:c.T784A:p.F262I;ENSG00000134759:ENST00000350494:exon7:c.T706A:p.F236I;ENSG00000134759:ENST00000358232:exon7:c.T589A:p.F197I;ENSG00000134759:ENST00000539560:exon7:c.T589A:p.F197I;	0.418648587772659	0.612
18	33722244	T	C	18	36142281	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T784C:p.F262L;ELP2:NM_001242878:exon6:c.T511C:p.F171L;ELP2:NM_018255:exon7:c.T589C:p.F197L;ELP2:NM_001242876:exon7:c.T706C:p.F236L;ELP2:NM_001242877:exon6:c.T511C:p.F171L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T511C:p.F171L;ENSG00000134759:ENST00000543127:exon7:c.T142C:p.F48L;ENSG00000134759:ENST00000351393:exon6:c.T511C:p.F171L;ENSG00000134759:ENST00000442325:exon8:c.T784C:p.F262L;ENSG00000134759:ENST00000350494:exon7:c.T706C:p.F236L;ENSG00000134759:ENST00000358232:exon7:c.T589C:p.F197L;ENSG00000134759:ENST00000539560:exon7:c.T589C:p.F197L;	0.921308342655896	0.6
18	33722244	T	G	18	36142281	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T784G:p.F262V;ELP2:NM_001242878:exon6:c.T511G:p.F171V;ELP2:NM_018255:exon7:c.T589G:p.F197V;ELP2:NM_001242876:exon7:c.T706G:p.F236V;ELP2:NM_001242877:exon6:c.T511G:p.F171V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T511G:p.F171V;ENSG00000134759:ENST00000543127:exon7:c.T142G:p.F48V;ENSG00000134759:ENST00000351393:exon6:c.T511G:p.F171V;ENSG00000134759:ENST00000442325:exon8:c.T784G:p.F262V;ENSG00000134759:ENST00000350494:exon7:c.T706G:p.F236V;ENSG00000134759:ENST00000358232:exon7:c.T589G:p.F197V;ENSG00000134759:ENST00000539560:exon7:c.T589G:p.F197V;	0.581510846022586	0.558
18	33722245	T	A	18	36142282	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T785A:p.F262Y;ELP2:NM_001242878:exon6:c.T512A:p.F171Y;ELP2:NM_018255:exon7:c.T590A:p.F197Y;ELP2:NM_001242876:exon7:c.T707A:p.F236Y;ELP2:NM_001242877:exon6:c.T512A:p.F171Y;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T512A:p.F171Y;ENSG00000134759:ENST00000543127:exon7:c.T143A:p.F48Y;ENSG00000134759:ENST00000351393:exon6:c.T512A:p.F171Y;ENSG00000134759:ENST00000442325:exon8:c.T785A:p.F262Y;ENSG00000134759:ENST00000350494:exon7:c.T707A:p.F236Y;ENSG00000134759:ENST00000358232:exon7:c.T590A:p.F197Y;ENSG00000134759:ENST00000539560:exon7:c.T590A:p.F197Y;	0.830657409828156	0.378
18	33722245	T	C	18	36142282	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T785C:p.F262S;ELP2:NM_001242878:exon6:c.T512C:p.F171S;ELP2:NM_018255:exon7:c.T590C:p.F197S;ELP2:NM_001242876:exon7:c.T707C:p.F236S;ELP2:NM_001242877:exon6:c.T512C:p.F171S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T512C:p.F171S;ENSG00000134759:ENST00000543127:exon7:c.T143C:p.F48S;ENSG00000134759:ENST00000351393:exon6:c.T512C:p.F171S;ENSG00000134759:ENST00000442325:exon8:c.T785C:p.F262S;ENSG00000134759:ENST00000350494:exon7:c.T707C:p.F236S;ENSG00000134759:ENST00000358232:exon7:c.T590C:p.F197S;ENSG00000134759:ENST00000539560:exon7:c.T590C:p.F197S;	0.833527884764031	0.402
18	33722245	T	G	18	36142282	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T785G:p.F262C;ELP2:NM_001242878:exon6:c.T512G:p.F171C;ELP2:NM_018255:exon7:c.T590G:p.F197C;ELP2:NM_001242876:exon7:c.T707G:p.F236C;ELP2:NM_001242877:exon6:c.T512G:p.F171C;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T512G:p.F171C;ENSG00000134759:ENST00000543127:exon7:c.T143G:p.F48C;ENSG00000134759:ENST00000351393:exon6:c.T512G:p.F171C;ENSG00000134759:ENST00000442325:exon8:c.T785G:p.F262C;ENSG00000134759:ENST00000350494:exon7:c.T707G:p.F236C;ENSG00000134759:ENST00000358232:exon7:c.T590G:p.F197C;ENSG00000134759:ENST00000539560:exon7:c.T590G:p.F197C;	0.809258357383803	0.332
18	33722308	T	A	18	36142345	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T848A:p.F283Y;ELP2:NM_001242878:exon6:c.T575A:p.F192Y;ELP2:NM_018255:exon7:c.T653A:p.F218Y;ELP2:NM_001242876:exon7:c.T770A:p.F257Y;ELP2:NM_001242877:exon6:c.T575A:p.F192Y;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T575A:p.F192Y;ENSG00000134759:ENST00000351393:exon6:c.T575A:p.F192Y;ENSG00000134759:ENST00000442325:exon8:c.T848A:p.F283Y;ENSG00000134759:ENST00000350494:exon7:c.T770A:p.F257Y;ENSG00000134759:ENST00000358232:exon7:c.T653A:p.F218Y;ENSG00000134759:ENST00000539560:exon7:c.T653A:p.F218Y;	0.00352381443017931	0.078
18	33722308	T	C	18	36142345	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T848C:p.F283S;ELP2:NM_001242878:exon6:c.T575C:p.F192S;ELP2:NM_018255:exon7:c.T653C:p.F218S;ELP2:NM_001242876:exon7:c.T770C:p.F257S;ELP2:NM_001242877:exon6:c.T575C:p.F192S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T575C:p.F192S;ENSG00000134759:ENST00000351393:exon6:c.T575C:p.F192S;ENSG00000134759:ENST00000442325:exon8:c.T848C:p.F283S;ENSG00000134759:ENST00000350494:exon7:c.T770C:p.F257S;ENSG00000134759:ENST00000358232:exon7:c.T653C:p.F218S;ENSG00000134759:ENST00000539560:exon7:c.T653C:p.F218S;	4.67865180227385E-4	0.018
18	33722308	T	G	18	36142345	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T848G:p.F283C;ELP2:NM_001242878:exon6:c.T575G:p.F192C;ELP2:NM_018255:exon7:c.T653G:p.F218C;ELP2:NM_001242876:exon7:c.T770G:p.F257C;ELP2:NM_001242877:exon6:c.T575G:p.F192C;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T575G:p.F192C;ENSG00000134759:ENST00000351393:exon6:c.T575G:p.F192C;ENSG00000134759:ENST00000442325:exon8:c.T848G:p.F283C;ENSG00000134759:ENST00000350494:exon7:c.T770G:p.F257C;ENSG00000134759:ENST00000358232:exon7:c.T653G:p.F218C;ENSG00000134759:ENST00000539560:exon7:c.T653G:p.F218C;	0.0325969494188618	0.152
18	33722309	T	A	18	36142346	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T849A:p.F283L;ELP2:NM_001242878:exon6:c.T576A:p.F192L;ELP2:NM_018255:exon7:c.T654A:p.F218L;ELP2:NM_001242876:exon7:c.T771A:p.F257L;ELP2:NM_001242877:exon6:c.T576A:p.F192L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T576A:p.F192L;ENSG00000134759:ENST00000351393:exon6:c.T576A:p.F192L;ENSG00000134759:ENST00000442325:exon8:c.T849A:p.F283L;ENSG00000134759:ENST00000350494:exon7:c.T771A:p.F257L;ENSG00000134759:ENST00000358232:exon7:c.T654A:p.F218L;ENSG00000134759:ENST00000539560:exon7:c.T654A:p.F218L;	0.00110713719308638	0.2
18	33722309	T	C	18	36142346	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242875:exon8:c.T849C:p.F283F;ELP2:NM_001242878:exon6:c.T576C:p.F192F;ELP2:NM_018255:exon7:c.T654C:p.F218F;ELP2:NM_001242876:exon7:c.T771C:p.F257F;ELP2:NM_001242877:exon6:c.T576C:p.F192F;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T576C:p.F192F;ENSG00000134759:ENST00000351393:exon6:c.T576C:p.F192F;ENSG00000134759:ENST00000442325:exon8:c.T849C:p.F283F;ENSG00000134759:ENST00000350494:exon7:c.T771C:p.F257F;ENSG00000134759:ENST00000358232:exon7:c.T654C:p.F218F;ENSG00000134759:ENST00000539560:exon7:c.T654C:p.F218F;	0.0329177947730816	0.298
18	33722309	T	G	18	36142346	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.T849G:p.F283L;ELP2:NM_001242878:exon6:c.T576G:p.F192L;ELP2:NM_018255:exon7:c.T654G:p.F218L;ELP2:NM_001242876:exon7:c.T771G:p.F257L;ELP2:NM_001242877:exon6:c.T576G:p.F192L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.T576G:p.F192L;ENSG00000134759:ENST00000351393:exon6:c.T576G:p.F192L;ENSG00000134759:ENST00000442325:exon8:c.T849G:p.F283L;ENSG00000134759:ENST00000350494:exon7:c.T771G:p.F257L;ENSG00000134759:ENST00000358232:exon7:c.T654G:p.F218L;ENSG00000134759:ENST00000539560:exon7:c.T654G:p.F218L;	0.0211019917199214	0.192
18	33722310	G	A	18	36142347	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.G850A:p.G284S;ELP2:NM_001242878:exon6:c.G577A:p.G193S;ELP2:NM_018255:exon7:c.G655A:p.G219S;ELP2:NM_001242876:exon7:c.G772A:p.G258S;ELP2:NM_001242877:exon6:c.G577A:p.G193S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.G577A:p.G193S;ENSG00000134759:ENST00000351393:exon6:c.G577A:p.G193S;ENSG00000134759:ENST00000442325:exon8:c.G850A:p.G284S;ENSG00000134759:ENST00000350494:exon7:c.G772A:p.G258S;ENSG00000134759:ENST00000358232:exon7:c.G655A:p.G219S;ENSG00000134759:ENST00000539560:exon7:c.G655A:p.G219S;	0.999998157450163	1.0
18	33722310	G	C	18	36142347	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.G850C:p.G284R;ELP2:NM_001242878:exon6:c.G577C:p.G193R;ELP2:NM_018255:exon7:c.G655C:p.G219R;ELP2:NM_001242876:exon7:c.G772C:p.G258R;ELP2:NM_001242877:exon6:c.G577C:p.G193R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.G577C:p.G193R;ENSG00000134759:ENST00000351393:exon6:c.G577C:p.G193R;ENSG00000134759:ENST00000442325:exon8:c.G850C:p.G284R;ENSG00000134759:ENST00000350494:exon7:c.G772C:p.G258R;ENSG00000134759:ENST00000358232:exon7:c.G655C:p.G219R;ENSG00000134759:ENST00000539560:exon7:c.G655C:p.G219R;	0.999998211072241	0.928
18	33722310	G	T	18	36142347	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242875:exon8:c.G850T:p.G284C;ELP2:NM_001242878:exon6:c.G577T:p.G193C;ELP2:NM_018255:exon7:c.G655T:p.G219C;ELP2:NM_001242876:exon7:c.G772T:p.G258C;ELP2:NM_001242877:exon6:c.G577T:p.G193C;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon6:c.G577T:p.G193C;ENSG00000134759:ENST00000351393:exon6:c.G577T:p.G193C;ENSG00000134759:ENST00000442325:exon8:c.G850T:p.G284C;ENSG00000134759:ENST00000350494:exon7:c.G772T:p.G258C;ENSG00000134759:ENST00000358232:exon7:c.G655T:p.G219C;ENSG00000134759:ENST00000539560:exon7:c.G655T:p.G219C;	0.999991844814394	0.99
18	33722311	G	A	18	36142348	y	y	splicing	ELP2(NM_001242875:exon8:c.850+1G>A;NM_001242876:exon7:c.772+1G>A;NM_018255:exon7:c.655+1G>A;NM_001242878:exon6:c.577+1G>A;NM_001242877:exon6:c.577+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon7:c.655+1G>A;ENST00000351393:exon6:c.577+1G>A;ENST00000545632:exon5:c.498+1G>A;ENST00000442325:exon8:c.850+1G>A;ENST00000539560:exon7:c.655+1G>A;ENST00000350494:exon7:c.772+1G>A;ENST00000542824:exon6:c.577+1G>A)	.	.	0.999984967332678	0.94
18	33722311	G	C	18	36142348	y	y	splicing	ELP2(NM_001242875:exon8:c.850+1G>C;NM_001242876:exon7:c.772+1G>C;NM_018255:exon7:c.655+1G>C;NM_001242878:exon6:c.577+1G>C;NM_001242877:exon6:c.577+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon7:c.655+1G>C;ENST00000351393:exon6:c.577+1G>C;ENST00000545632:exon5:c.498+1G>C;ENST00000442325:exon8:c.850+1G>C;ENST00000539560:exon7:c.655+1G>C;ENST00000350494:exon7:c.772+1G>C;ENST00000542824:exon6:c.577+1G>C)	.	.	0.999984967332678	0.94
18	33722311	G	T	18	36142348	y	y	splicing	ELP2(NM_001242875:exon8:c.850+1G>T;NM_001242876:exon7:c.772+1G>T;NM_018255:exon7:c.655+1G>T;NM_001242878:exon6:c.577+1G>T;NM_001242877:exon6:c.577+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon7:c.655+1G>T;ENST00000351393:exon6:c.577+1G>T;ENST00000545632:exon5:c.498+1G>T;ENST00000442325:exon8:c.850+1G>T;ENST00000539560:exon7:c.655+1G>T;ENST00000350494:exon7:c.772+1G>T;ENST00000542824:exon6:c.577+1G>T)	.	.	0.999984967332678	0.94
18	33722312	T	A	18	36142349	y	y	splicing	ELP2(NM_001242875:exon8:c.850+2T>A;NM_001242876:exon7:c.772+2T>A;NM_018255:exon7:c.655+2T>A;NM_001242878:exon6:c.577+2T>A;NM_001242877:exon6:c.577+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon7:c.655+2T>A;ENST00000351393:exon6:c.577+2T>A;ENST00000545632:exon5:c.498+2T>A;ENST00000442325:exon8:c.850+2T>A;ENST00000539560:exon7:c.655+2T>A;ENST00000350494:exon7:c.772+2T>A;ENST00000542824:exon6:c.577+2T>A)	.	.	0.999986741007567	0.936
18	33722312	T	C	18	36142349	y	y	splicing	ELP2(NM_001242875:exon8:c.850+2T>C;NM_001242876:exon7:c.772+2T>C;NM_018255:exon7:c.655+2T>C;NM_001242878:exon6:c.577+2T>C;NM_001242877:exon6:c.577+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon7:c.655+2T>C;ENST00000351393:exon6:c.577+2T>C;ENST00000545632:exon5:c.498+2T>C;ENST00000442325:exon8:c.850+2T>C;ENST00000539560:exon7:c.655+2T>C;ENST00000350494:exon7:c.772+2T>C;ENST00000542824:exon6:c.577+2T>C)	.	.	0.999870165136786	0.87
18	33722312	T	G	18	36142349	y	y	splicing	ELP2(NM_001242875:exon8:c.850+2T>G;NM_001242876:exon7:c.772+2T>G;NM_018255:exon7:c.655+2T>G;NM_001242878:exon6:c.577+2T>G;NM_001242877:exon6:c.577+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon7:c.655+2T>G;ENST00000351393:exon6:c.577+2T>G;ENST00000545632:exon5:c.498+2T>G;ENST00000442325:exon8:c.850+2T>G;ENST00000539560:exon7:c.655+2T>G;ENST00000350494:exon7:c.772+2T>G;ENST00000542824:exon6:c.577+2T>G)	.	.	0.999986741007567	0.936
18	33722313	C	A	18	36142350	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.03020215885671E-5	0.022
18	33722313	C	G	18	36142350	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.23128040762522E-5	0.02
18	33722313	C	T	18	36142350	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.71042305855406E-4	0.108
18	33722314	A	C	18	36142351	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999793442826203	0.938
18	33722314	A	G	18	36142351	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999574361681235	0.98
18	33722314	A	T	18	36142351	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999649715323848	0.952
18	33722315	G	A	18	36142352	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999897137670948	0.998
18	33722315	G	C	18	36142352	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999897137670948	0.994
18	33722315	G	T	18	36142352	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999959766391626	0.95
18	33722316	T	A	18	36142353	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997792694623737	0.814
18	33722316	T	C	18	36142353	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996011245228946	0.952
18	33722316	T	G	18	36142353	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996760105864635	0.93
18	33722317	A	C	18	36142354	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.15994203348245E-4	0.046
18	33722317	A	G	18	36142354	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.22904976437766E-4	0.052
18	33722317	A	T	18	36142354	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00255929210548596	0.074
18	33722318	T	A	18	36142355	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.121418582023772	0.222
18	33722318	T	C	18	36142355	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0882526861786393	0.474
18	33722318	T	G	18	36142355	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.125793320152398	0.486
18	33722777	T	A	18	36142814	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996520817622384	0.87
18	33722777	T	C	18	36142814	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0409890374511544	0.184
18	33722777	T	G	18	36142814	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999935396005556	0.916
18	33722778	T	A	18	36142815	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999608281093162	0.918
18	33722778	T	C	18	36142815	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.907000415855865	0.466
18	33722778	T	G	18	36142815	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998909541318975	0.882
18	33722779	T	A	18	36142816	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.982264803689168	0.65
18	33722779	T	C	18	36142816	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.07604319579999E-4	0.05
18	33722779	T	G	18	36142816	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.5323270682276	0.506
18	33722780	T	A	18	36142817	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.840702361274098	0.622
18	33722780	T	C	18	36142817	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.85583694647284E-4	0.018
18	33722780	T	G	18	36142817	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.791272868821327	0.606
18	33722781	T	A	18	36142818	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00589366000876086	0.09
18	33722781	T	C	18	36142818	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.04360592299595E-5	0.004
18	33722781	T	G	18	36142818	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00200039408080165	0.104
18	33722782	T	A	18	36142819	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0197129605035978	0.092
18	33722782	T	C	18	36142819	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.62914553193489E-4	0.004
18	33722782	T	G	18	36142819	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0345209476408696	0.088
18	33722783	A	C	18	36142820	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.95020263151868E-5	0.004
18	33722783	A	G	18	36142820	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.86950963617354E-5	0.012
18	33722783	A	T	18	36142820	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.19060601378112E-5	0.012
18	33722784	A	C	18	36142821	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.06522249347203E-4	0.0
18	33722784	A	G	18	36142821	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99879486583087	0.958
18	33722784	A	T	18	36142821	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00107055142607524	0.014
18	33722785	T	A	18	36142822	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.28633814158887E-5	0.004
18	33722785	T	C	18	36142822	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.08219361360536E-5	0.0
18	33722785	T	G	18	36142822	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995930545437252	0.916
18	33722786	T	A	18	36142823	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.581582500588882	0.406
18	33722786	T	C	18	36142823	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0081336789196431	0.03
18	33722786	T	G	18	36142823	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998787257980551	0.838
18	33722787	A	C	18	36142824	y	y	splicing	ELP2(NM_001242875:exon9:c.851-2A>C;NM_001242876:exon8:c.773-2A>C;NM_018255:exon8:c.656-2A>C;NM_001242878:exon7:c.578-2A>C;NM_001242877:exon7:c.578-2A>C;NM_001242879:exon5:c.446-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.656-2A>C;ENST00000351393:exon7:c.578-2A>C;ENST00000545632:exon6:c.499-2A>C;ENST00000442325:exon9:c.851-2A>C;ENST00000423854:exon5:c.446-2A>C;ENST00000539560:exon8:c.656-2A>C;ENST00000350494:exon8:c.773-2A>C;ENST00000542824:exon7:c.578-2A>C)	.	.	0.999992446697775	0.914
18	33722787	A	G	18	36142824	y	y	splicing	ELP2(NM_001242875:exon9:c.851-2A>G;NM_001242876:exon8:c.773-2A>G;NM_018255:exon8:c.656-2A>G;NM_001242878:exon7:c.578-2A>G;NM_001242877:exon7:c.578-2A>G;NM_001242879:exon5:c.446-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.656-2A>G;ENST00000351393:exon7:c.578-2A>G;ENST00000545632:exon6:c.499-2A>G;ENST00000442325:exon9:c.851-2A>G;ENST00000423854:exon5:c.446-2A>G;ENST00000539560:exon8:c.656-2A>G;ENST00000350494:exon8:c.773-2A>G;ENST00000542824:exon7:c.578-2A>G)	.	.	0.999992446697775	0.876
18	33722787	A	T	18	36142824	y	y	splicing	ELP2(NM_001242875:exon9:c.851-2A>T;NM_001242876:exon8:c.773-2A>T;NM_018255:exon8:c.656-2A>T;NM_001242878:exon7:c.578-2A>T;NM_001242877:exon7:c.578-2A>T;NM_001242879:exon5:c.446-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.656-2A>T;ENST00000351393:exon7:c.578-2A>T;ENST00000545632:exon6:c.499-2A>T;ENST00000442325:exon9:c.851-2A>T;ENST00000423854:exon5:c.446-2A>T;ENST00000539560:exon8:c.656-2A>T;ENST00000350494:exon8:c.773-2A>T;ENST00000542824:exon7:c.578-2A>T)	.	.	0.999992446697775	0.926
18	33722788	G	A	18	36142825	y	y	splicing	ELP2(NM_001242875:exon9:c.851-1G>A;NM_001242876:exon8:c.773-1G>A;NM_018255:exon8:c.656-1G>A;NM_001242878:exon7:c.578-1G>A;NM_001242877:exon7:c.578-1G>A;NM_001242879:exon5:c.446-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.656-1G>A;ENST00000351393:exon7:c.578-1G>A;ENST00000545632:exon6:c.499-1G>A;ENST00000442325:exon9:c.851-1G>A;ENST00000423854:exon5:c.446-1G>A;ENST00000539560:exon8:c.656-1G>A;ENST00000350494:exon8:c.773-1G>A;ENST00000542824:exon7:c.578-1G>A)	.	.	0.999988247793601	0.926
18	33722788	G	C	18	36142825	y	y	splicing	ELP2(NM_001242875:exon9:c.851-1G>C;NM_001242876:exon8:c.773-1G>C;NM_018255:exon8:c.656-1G>C;NM_001242878:exon7:c.578-1G>C;NM_001242877:exon7:c.578-1G>C;NM_001242879:exon5:c.446-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.656-1G>C;ENST00000351393:exon7:c.578-1G>C;ENST00000545632:exon6:c.499-1G>C;ENST00000442325:exon9:c.851-1G>C;ENST00000423854:exon5:c.446-1G>C;ENST00000539560:exon8:c.656-1G>C;ENST00000350494:exon8:c.773-1G>C;ENST00000542824:exon7:c.578-1G>C)	.	.	0.999988247793601	0.926
18	33722788	G	T	18	36142825	y	y	splicing	ELP2(NM_001242875:exon9:c.851-1G>T;NM_001242876:exon8:c.773-1G>T;NM_018255:exon8:c.656-1G>T;NM_001242878:exon7:c.578-1G>T;NM_001242877:exon7:c.578-1G>T;NM_001242879:exon5:c.446-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.656-1G>T;ENST00000351393:exon7:c.578-1G>T;ENST00000545632:exon6:c.499-1G>T;ENST00000442325:exon9:c.851-1G>T;ENST00000423854:exon5:c.446-1G>T;ENST00000539560:exon8:c.656-1G>T;ENST00000350494:exon8:c.773-1G>T;ENST00000542824:exon7:c.578-1G>T)	.	.	0.999988247793601	0.926
18	33722789	G	A	18	36142826	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.G446A:p.G149D;ELP2:NM_001242875:exon9:c.G851A:p.G284D;ELP2:NM_001242878:exon7:c.G578A:p.G193D;ELP2:NM_018255:exon8:c.G656A:p.G219D;ELP2:NM_001242876:exon8:c.G773A:p.G258D;ELP2:NM_001242877:exon7:c.G578A:p.G193D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.G578A:p.G193D;ENSG00000134759:ENST00000351393:exon7:c.G578A:p.G193D;ENSG00000134759:ENST00000442325:exon9:c.G851A:p.G284D;ENSG00000134759:ENST00000350494:exon8:c.G773A:p.G258D;ENSG00000134759:ENST00000423854:exon5:c.G446A:p.G149D;ENSG00000134759:ENST00000358232:exon8:c.G656A:p.G219D;ENSG00000134759:ENST00000539560:exon8:c.G656A:p.G219D;	0.971029154005497	0.674
18	33722789	G	C	18	36142826	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.G446C:p.G149A;ELP2:NM_001242875:exon9:c.G851C:p.G284A;ELP2:NM_001242878:exon7:c.G578C:p.G193A;ELP2:NM_018255:exon8:c.G656C:p.G219A;ELP2:NM_001242876:exon8:c.G773C:p.G258A;ELP2:NM_001242877:exon7:c.G578C:p.G193A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.G578C:p.G193A;ENSG00000134759:ENST00000351393:exon7:c.G578C:p.G193A;ENSG00000134759:ENST00000442325:exon9:c.G851C:p.G284A;ENSG00000134759:ENST00000350494:exon8:c.G773C:p.G258A;ENSG00000134759:ENST00000423854:exon5:c.G446C:p.G149A;ENSG00000134759:ENST00000358232:exon8:c.G656C:p.G219A;ENSG00000134759:ENST00000539560:exon8:c.G656C:p.G219A;	0.998841218974911	0.956
18	33722789	G	T	18	36142826	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.G446T:p.G149V;ELP2:NM_001242875:exon9:c.G851T:p.G284V;ELP2:NM_001242878:exon7:c.G578T:p.G193V;ELP2:NM_018255:exon8:c.G656T:p.G219V;ELP2:NM_001242876:exon8:c.G773T:p.G258V;ELP2:NM_001242877:exon7:c.G578T:p.G193V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.G578T:p.G193V;ENSG00000134759:ENST00000351393:exon7:c.G578T:p.G193V;ENSG00000134759:ENST00000442325:exon9:c.G851T:p.G284V;ENSG00000134759:ENST00000350494:exon8:c.G773T:p.G258V;ENSG00000134759:ENST00000423854:exon5:c.G446T:p.G149V;ENSG00000134759:ENST00000358232:exon8:c.G656T:p.G219V;ENSG00000134759:ENST00000539560:exon8:c.G656T:p.G219V;	0.998554693369798	0.972
18	33722790	T	A	18	36142827	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon5:c.T447A:p.G149G;ELP2:NM_001242875:exon9:c.T852A:p.G284G;ELP2:NM_001242878:exon7:c.T579A:p.G193G;ELP2:NM_018255:exon8:c.T657A:p.G219G;ELP2:NM_001242876:exon8:c.T774A:p.G258G;ELP2:NM_001242877:exon7:c.T579A:p.G193G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.T579A:p.G193G;ENSG00000134759:ENST00000351393:exon7:c.T579A:p.G193G;ENSG00000134759:ENST00000442325:exon9:c.T852A:p.G284G;ENSG00000134759:ENST00000350494:exon8:c.T774A:p.G258G;ENSG00000134759:ENST00000423854:exon5:c.T447A:p.G149G;ENSG00000134759:ENST00000358232:exon8:c.T657A:p.G219G;ENSG00000134759:ENST00000539560:exon8:c.T657A:p.G219G;	0.0310974733254514	0.232
18	33722790	T	C	18	36142827	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon5:c.T447C:p.G149G;ELP2:NM_001242875:exon9:c.T852C:p.G284G;ELP2:NM_001242878:exon7:c.T579C:p.G193G;ELP2:NM_018255:exon8:c.T657C:p.G219G;ELP2:NM_001242876:exon8:c.T774C:p.G258G;ELP2:NM_001242877:exon7:c.T579C:p.G193G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.T579C:p.G193G;ENSG00000134759:ENST00000351393:exon7:c.T579C:p.G193G;ENSG00000134759:ENST00000442325:exon9:c.T852C:p.G284G;ENSG00000134759:ENST00000350494:exon8:c.T774C:p.G258G;ENSG00000134759:ENST00000423854:exon5:c.T447C:p.G149G;ENSG00000134759:ENST00000358232:exon8:c.T657C:p.G219G;ENSG00000134759:ENST00000539560:exon8:c.T657C:p.G219G;	0.00968241623389711	0.258
18	33722790	T	G	18	36142827	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon5:c.T447G:p.G149G;ELP2:NM_001242875:exon9:c.T852G:p.G284G;ELP2:NM_001242878:exon7:c.T579G:p.G193G;ELP2:NM_018255:exon8:c.T657G:p.G219G;ELP2:NM_001242876:exon8:c.T774G:p.G258G;ELP2:NM_001242877:exon7:c.T579G:p.G193G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.T579G:p.G193G;ENSG00000134759:ENST00000351393:exon7:c.T579G:p.G193G;ENSG00000134759:ENST00000442325:exon9:c.T852G:p.G284G;ENSG00000134759:ENST00000350494:exon8:c.T774G:p.G258G;ENSG00000134759:ENST00000423854:exon5:c.T447G:p.G149G;ENSG00000134759:ENST00000358232:exon8:c.T657G:p.G219G;ENSG00000134759:ENST00000539560:exon8:c.T657G:p.G219G;	0.00944971502615252	0.284
18	33722927	A	C	18	36142964	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.A584C:p.E195A;ELP2:NM_001242875:exon9:c.A989C:p.E330A;ELP2:NM_001242878:exon7:c.A716C:p.E239A;ELP2:NM_018255:exon8:c.A794C:p.E265A;ELP2:NM_001242876:exon8:c.A911C:p.E304A;ELP2:NM_001242877:exon7:c.A716C:p.E239A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A716C:p.E239A;ENSG00000134759:ENST00000351393:exon7:c.A716C:p.E239A;ENSG00000134759:ENST00000442325:exon9:c.A989C:p.E330A;ENSG00000134759:ENST00000350494:exon8:c.A911C:p.E304A;ENSG00000134759:ENST00000423854:exon5:c.A584C:p.E195A;ENSG00000134759:ENST00000358232:exon8:c.A794C:p.E265A;ENSG00000134759:ENST00000539560:exon8:c.A794C:p.E265A;	5.95723026013678E-5	0.008
18	33722927	A	G	18	36142964	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.A584G:p.E195G;ELP2:NM_001242875:exon9:c.A989G:p.E330G;ELP2:NM_001242878:exon7:c.A716G:p.E239G;ELP2:NM_018255:exon8:c.A794G:p.E265G;ELP2:NM_001242876:exon8:c.A911G:p.E304G;ELP2:NM_001242877:exon7:c.A716G:p.E239G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A716G:p.E239G;ENSG00000134759:ENST00000351393:exon7:c.A716G:p.E239G;ENSG00000134759:ENST00000442325:exon9:c.A989G:p.E330G;ENSG00000134759:ENST00000350494:exon8:c.A911G:p.E304G;ENSG00000134759:ENST00000423854:exon5:c.A584G:p.E195G;ENSG00000134759:ENST00000358232:exon8:c.A794G:p.E265G;ENSG00000134759:ENST00000539560:exon8:c.A794G:p.E265G;	1.4214734560886E-4	0.01
18	33722927	A	T	18	36142964	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.A584T:p.E195V;ELP2:NM_001242875:exon9:c.A989T:p.E330V;ELP2:NM_001242878:exon7:c.A716T:p.E239V;ELP2:NM_018255:exon8:c.A794T:p.E265V;ELP2:NM_001242876:exon8:c.A911T:p.E304V;ELP2:NM_001242877:exon7:c.A716T:p.E239V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A716T:p.E239V;ENSG00000134759:ENST00000351393:exon7:c.A716T:p.E239V;ENSG00000134759:ENST00000442325:exon9:c.A989T:p.E330V;ENSG00000134759:ENST00000350494:exon8:c.A911T:p.E304V;ENSG00000134759:ENST00000423854:exon5:c.A584T:p.E195V;ENSG00000134759:ENST00000358232:exon8:c.A794T:p.E265V;ENSG00000134759:ENST00000539560:exon8:c.A794T:p.E265V;	0.0270966482639037	0.426
18	33722928	A	C	18	36142965	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.A585C:p.E195D;ELP2:NM_001242875:exon9:c.A990C:p.E330D;ELP2:NM_001242878:exon7:c.A717C:p.E239D;ELP2:NM_018255:exon8:c.A795C:p.E265D;ELP2:NM_001242876:exon8:c.A912C:p.E304D;ELP2:NM_001242877:exon7:c.A717C:p.E239D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A717C:p.E239D;ENSG00000134759:ENST00000351393:exon7:c.A717C:p.E239D;ENSG00000134759:ENST00000442325:exon9:c.A990C:p.E330D;ENSG00000134759:ENST00000350494:exon8:c.A912C:p.E304D;ENSG00000134759:ENST00000423854:exon5:c.A585C:p.E195D;ENSG00000134759:ENST00000358232:exon8:c.A795C:p.E265D;ENSG00000134759:ENST00000539560:exon8:c.A795C:p.E265D;	0.520462757099148	0.556
18	33722928	A	G	18	36142965	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon5:c.A585G:p.E195E;ELP2:NM_001242875:exon9:c.A990G:p.E330E;ELP2:NM_001242878:exon7:c.A717G:p.E239E;ELP2:NM_018255:exon8:c.A795G:p.E265E;ELP2:NM_001242876:exon8:c.A912G:p.E304E;ELP2:NM_001242877:exon7:c.A717G:p.E239E;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A717G:p.E239E;ENSG00000134759:ENST00000351393:exon7:c.A717G:p.E239E;ENSG00000134759:ENST00000442325:exon9:c.A990G:p.E330E;ENSG00000134759:ENST00000350494:exon8:c.A912G:p.E304E;ENSG00000134759:ENST00000423854:exon5:c.A585G:p.E195E;ENSG00000134759:ENST00000358232:exon8:c.A795G:p.E265E;ENSG00000134759:ENST00000539560:exon8:c.A795G:p.E265E;	0.744976261643002	0.366
18	33722928	A	T	18	36142965	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.A585T:p.E195D;ELP2:NM_001242875:exon9:c.A990T:p.E330D;ELP2:NM_001242878:exon7:c.A717T:p.E239D;ELP2:NM_018255:exon8:c.A795T:p.E265D;ELP2:NM_001242876:exon8:c.A912T:p.E304D;ELP2:NM_001242877:exon7:c.A717T:p.E239D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A717T:p.E239D;ENSG00000134759:ENST00000351393:exon7:c.A717T:p.E239D;ENSG00000134759:ENST00000442325:exon9:c.A990T:p.E330D;ENSG00000134759:ENST00000350494:exon8:c.A912T:p.E304D;ENSG00000134759:ENST00000423854:exon5:c.A585T:p.E195D;ENSG00000134759:ENST00000358232:exon8:c.A795T:p.E265D;ENSG00000134759:ENST00000539560:exon8:c.A795T:p.E265D;	0.963891664682805	0.67
18	33722929	A	C	18	36142966	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.A586C:p.S196R;ELP2:NM_001242875:exon9:c.A991C:p.S331R;ELP2:NM_001242878:exon7:c.A718C:p.S240R;ELP2:NM_018255:exon8:c.A796C:p.S266R;ELP2:NM_001242876:exon8:c.A913C:p.S305R;ELP2:NM_001242877:exon7:c.A718C:p.S240R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A718C:p.S240R;ENSG00000134759:ENST00000351393:exon7:c.A718C:p.S240R;ENSG00000134759:ENST00000442325:exon9:c.A991C:p.S331R;ENSG00000134759:ENST00000350494:exon8:c.A913C:p.S305R;ENSG00000134759:ENST00000423854:exon5:c.A586C:p.S196R;ENSG00000134759:ENST00000358232:exon8:c.A796C:p.S266R;ENSG00000134759:ENST00000539560:exon8:c.A796C:p.S266R;	1.40212794829765E-4	0.114
18	33722929	A	G	18	36142966	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.A586G:p.S196G;ELP2:NM_001242875:exon9:c.A991G:p.S331G;ELP2:NM_001242878:exon7:c.A718G:p.S240G;ELP2:NM_018255:exon8:c.A796G:p.S266G;ELP2:NM_001242876:exon8:c.A913G:p.S305G;ELP2:NM_001242877:exon7:c.A718G:p.S240G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A718G:p.S240G;ENSG00000134759:ENST00000351393:exon7:c.A718G:p.S240G;ENSG00000134759:ENST00000442325:exon9:c.A991G:p.S331G;ENSG00000134759:ENST00000350494:exon8:c.A913G:p.S305G;ENSG00000134759:ENST00000423854:exon5:c.A586G:p.S196G;ENSG00000134759:ENST00000358232:exon8:c.A796G:p.S266G;ENSG00000134759:ENST00000539560:exon8:c.A796G:p.S266G;	2.78433856401654E-4	0.112
18	33722929	A	T	18	36142966	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon5:c.A586T:p.S196C;ELP2:NM_001242875:exon9:c.A991T:p.S331C;ELP2:NM_001242878:exon7:c.A718T:p.S240C;ELP2:NM_018255:exon8:c.A796T:p.S266C;ELP2:NM_001242876:exon8:c.A913T:p.S305C;ELP2:NM_001242877:exon7:c.A718T:p.S240C;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon7:c.A718T:p.S240C;ENSG00000134759:ENST00000351393:exon7:c.A718T:p.S240C;ENSG00000134759:ENST00000442325:exon9:c.A991T:p.S331C;ENSG00000134759:ENST00000350494:exon8:c.A913T:p.S305C;ENSG00000134759:ENST00000423854:exon5:c.A586T:p.S196C;ENSG00000134759:ENST00000358232:exon8:c.A796T:p.S266C;ENSG00000134759:ENST00000539560:exon8:c.A796T:p.S266C;	1.99426723500098E-4	0.102
18	33722930	G	A	18	36142967	y	y	splicing	ELP2(NM_001242875:exon9:c.991+1G>A;NM_001242876:exon8:c.913+1G>A;NM_018255:exon8:c.796+1G>A;NM_001242878:exon7:c.718+1G>A;NM_001242877:exon7:c.718+1G>A;NM_001242879:exon5:c.586+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.796+1G>A;ENST00000351393:exon7:c.718+1G>A;ENST00000442325:exon9:c.991+1G>A;ENST00000423854:exon5:c.586+1G>A;ENST00000539560:exon8:c.796+1G>A;ENST00000350494:exon8:c.913+1G>A;ENST00000542824:exon7:c.718+1G>A)	.	.	0.999988247793601	0.934
18	33722930	G	C	18	36142967	y	y	splicing	ELP2(NM_001242875:exon9:c.991+1G>C;NM_001242876:exon8:c.913+1G>C;NM_018255:exon8:c.796+1G>C;NM_001242878:exon7:c.718+1G>C;NM_001242877:exon7:c.718+1G>C;NM_001242879:exon5:c.586+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.796+1G>C;ENST00000351393:exon7:c.718+1G>C;ENST00000442325:exon9:c.991+1G>C;ENST00000423854:exon5:c.586+1G>C;ENST00000539560:exon8:c.796+1G>C;ENST00000350494:exon8:c.913+1G>C;ENST00000542824:exon7:c.718+1G>C)	.	.	0.999988247793601	0.934
18	33722930	G	T	18	36142967	y	y	splicing	ELP2(NM_001242875:exon9:c.991+1G>T;NM_001242876:exon8:c.913+1G>T;NM_018255:exon8:c.796+1G>T;NM_001242878:exon7:c.718+1G>T;NM_001242877:exon7:c.718+1G>T;NM_001242879:exon5:c.586+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.796+1G>T;ENST00000351393:exon7:c.718+1G>T;ENST00000442325:exon9:c.991+1G>T;ENST00000423854:exon5:c.586+1G>T;ENST00000539560:exon8:c.796+1G>T;ENST00000350494:exon8:c.913+1G>T;ENST00000542824:exon7:c.718+1G>T)	.	.	0.999988247793601	0.934
18	33722931	T	A	18	36142968	y	y	splicing	ELP2(NM_001242875:exon9:c.991+2T>A;NM_001242876:exon8:c.913+2T>A;NM_018255:exon8:c.796+2T>A;NM_001242878:exon7:c.718+2T>A;NM_001242877:exon7:c.718+2T>A;NM_001242879:exon5:c.586+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.796+2T>A;ENST00000351393:exon7:c.718+2T>A;ENST00000442325:exon9:c.991+2T>A;ENST00000423854:exon5:c.586+2T>A;ENST00000539560:exon8:c.796+2T>A;ENST00000350494:exon8:c.913+2T>A;ENST00000542824:exon7:c.718+2T>A)	.	.	0.999993519952936	0.926
18	33722931	T	C	18	36142968	y	y	splicing	ELP2(NM_001242875:exon9:c.991+2T>C;NM_001242876:exon8:c.913+2T>C;NM_018255:exon8:c.796+2T>C;NM_001242878:exon7:c.718+2T>C;NM_001242877:exon7:c.718+2T>C;NM_001242879:exon5:c.586+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.796+2T>C;ENST00000351393:exon7:c.718+2T>C;ENST00000442325:exon9:c.991+2T>C;ENST00000423854:exon5:c.586+2T>C;ENST00000539560:exon8:c.796+2T>C;ENST00000350494:exon8:c.913+2T>C;ENST00000542824:exon7:c.718+2T>C)	.	.	0.999958563240378	0.862
18	33722931	T	G	18	36142968	y	y	splicing	ELP2(NM_001242875:exon9:c.991+2T>G;NM_001242876:exon8:c.913+2T>G;NM_018255:exon8:c.796+2T>G;NM_001242878:exon7:c.718+2T>G;NM_001242877:exon7:c.718+2T>G;NM_001242879:exon5:c.586+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon8:c.796+2T>G;ENST00000351393:exon7:c.718+2T>G;ENST00000442325:exon9:c.991+2T>G;ENST00000423854:exon5:c.586+2T>G;ENST00000539560:exon8:c.796+2T>G;ENST00000350494:exon8:c.913+2T>G;ENST00000542824:exon7:c.718+2T>G)	.	.	0.999993519952936	0.926
18	33722932	G	A	18	36142969	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.02645512213369E-4	0.0
18	33722932	G	C	18	36142969	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.987793436165998	0.69
18	33722932	G	T	18	36142969	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.870505732462405	0.59
18	33722933	A	C	18	36142970	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996945215565541	0.884
18	33722933	A	G	18	36142970	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.9946321016709	0.914
18	33722933	A	T	18	36142970	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998900536663042	0.918
18	33722934	G	A	18	36142971	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999980713476716	0.996
18	33722934	G	C	18	36142971	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999935058346935	0.946
18	33722934	G	T	18	36142971	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999981246616971	1.0
18	33722935	T	A	18	36142972	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.992800786733642	0.872
18	33722935	T	C	18	36142972	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.976634412062932	0.832
18	33722935	T	G	18	36142972	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99047742747098	0.89
18	33722936	A	C	18	36142973	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.97741940679768E-5	0.0
18	33722936	A	G	18	36142973	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.32308053105298E-5	0.008
18	33722936	A	T	18	36142973	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.73520777537214E-4	0.034
18	33722937	A	C	18	36142974	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.58095411265808E-4	0.0
18	33722937	A	G	18	36142974	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.09014217409248E-4	0.002
18	33722937	A	T	18	36142974	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.63682045548067E-4	0.006
18	33724890	C	A	18	36144927	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.20554722831287E-4	0.044
18	33724890	C	G	18	36144927	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.89258636132464E-4	0.042
18	33724890	C	T	18	36144927	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.93696475059529E-5	0.006
18	33724891	T	A	18	36144928	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0805416316437446	0.288
18	33724891	T	C	18	36144928	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.25790713883338E-4	0.024
18	33724891	T	G	18	36144928	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00612197295225567	0.27
18	33724892	T	A	18	36144929	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0737510592910447	0.428
18	33724892	T	C	18	36144929	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.62634691205708E-4	0.004
18	33724892	T	G	18	36144929	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.256548354410408	0.554
18	33724893	T	A	18	36144930	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.122110771679248	0.406
18	33724893	T	C	18	36144930	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.79178733000647E-4	0.004
18	33724893	T	G	18	36144930	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0464584935616394	0.39
18	33724894	T	A	18	36144931	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999834889844073	0.96
18	33724894	T	C	18	36144931	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.8422247618937E-4	0.004
18	33724894	T	G	18	36144931	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.174151303531707	0.47
18	33724895	G	A	18	36144932	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00121718195815827	0.046
18	33724895	G	C	18	36144932	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.25742757451883E-4	0.07
18	33724895	G	T	18	36144932	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.71031268467739E-4	0.002
18	33724896	T	A	18	36144933	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.78915415861267	0.684
18	33724896	T	C	18	36144933	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00170304535836233	0.068
18	33724896	T	G	18	36144933	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.901947611138886	0.688
18	33724897	T	A	18	36144934	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.614593989804494	0.516
18	33724897	T	C	18	36144934	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.14929812758229E-4	0.022
18	33724897	T	G	18	36144934	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.408285521226003	0.458
18	33724898	A	C	18	36144935	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.32789747092644E-5	0.008
18	33724898	A	G	18	36144935	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.73689680444613E-4	0.006
18	33724898	A	T	18	36144935	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.40935014598908E-5	0.01
18	33724899	T	A	18	36144936	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00169223510041291	0.118
18	33724899	T	C	18	36144936	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.8398795410109E-5	0.006
18	33724899	T	G	18	36144936	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.830956631382748	0.634
18	33724900	A	C	18	36144937	y	y	splicing	ELP2(NM_001242875:exon10:c.992-2A>C;NM_001242876:exon9:c.914-2A>C;NM_018255:exon9:c.797-2A>C;NM_001242878:exon8:c.719-2A>C;NM_001242877:exon8:c.719-2A>C;NM_001242879:exon6:c.587-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.797-2A>C;ENST00000351393:exon8:c.719-2A>C;ENST00000442325:exon10:c.992-2A>C;ENST00000423854:exon6:c.587-2A>C;ENST00000539560:exon9:c.797-2A>C;ENST00000350494:exon9:c.914-2A>C;ENST00000542824:exon8:c.719-2A>C)	.	.	0.999978952611685	0.928
18	33724900	A	G	18	36144937	y	y	splicing	ELP2(NM_001242875:exon10:c.992-2A>G;NM_001242876:exon9:c.914-2A>G;NM_018255:exon9:c.797-2A>G;NM_001242878:exon8:c.719-2A>G;NM_001242877:exon8:c.719-2A>G;NM_001242879:exon6:c.587-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.797-2A>G;ENST00000351393:exon8:c.719-2A>G;ENST00000442325:exon10:c.992-2A>G;ENST00000423854:exon6:c.587-2A>G;ENST00000539560:exon9:c.797-2A>G;ENST00000350494:exon9:c.914-2A>G;ENST00000542824:exon8:c.719-2A>G)	.	.	0.999978952611685	0.928
18	33724900	A	T	18	36144937	y	y	splicing	ELP2(NM_001242875:exon10:c.992-2A>T;NM_001242876:exon9:c.914-2A>T;NM_018255:exon9:c.797-2A>T;NM_001242878:exon8:c.719-2A>T;NM_001242877:exon8:c.719-2A>T;NM_001242879:exon6:c.587-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.797-2A>T;ENST00000351393:exon8:c.719-2A>T;ENST00000442325:exon10:c.992-2A>T;ENST00000423854:exon6:c.587-2A>T;ENST00000539560:exon9:c.797-2A>T;ENST00000350494:exon9:c.914-2A>T;ENST00000542824:exon8:c.719-2A>T)	.	.	0.999978952611685	0.93
18	33724901	G	A	18	36144938	y	y	splicing	ELP2(NM_001242875:exon10:c.992-1G>A;NM_001242876:exon9:c.914-1G>A;NM_018255:exon9:c.797-1G>A;NM_001242878:exon8:c.719-1G>A;NM_001242877:exon8:c.719-1G>A;NM_001242879:exon6:c.587-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.797-1G>A;ENST00000351393:exon8:c.719-1G>A;ENST00000442325:exon10:c.992-1G>A;ENST00000423854:exon6:c.587-1G>A;ENST00000539560:exon9:c.797-1G>A;ENST00000350494:exon9:c.914-1G>A;ENST00000542824:exon8:c.719-1G>A)	.	.	0.999949496871441	0.936
18	33724901	G	C	18	36144938	y	y	splicing	ELP2(NM_001242875:exon10:c.992-1G>C;NM_001242876:exon9:c.914-1G>C;NM_018255:exon9:c.797-1G>C;NM_001242878:exon8:c.719-1G>C;NM_001242877:exon8:c.719-1G>C;NM_001242879:exon6:c.587-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.797-1G>C;ENST00000351393:exon8:c.719-1G>C;ENST00000442325:exon10:c.992-1G>C;ENST00000423854:exon6:c.587-1G>C;ENST00000539560:exon9:c.797-1G>C;ENST00000350494:exon9:c.914-1G>C;ENST00000542824:exon8:c.719-1G>C)	.	.	0.999949496871441	0.94
18	33724901	G	T	18	36144938	y	y	splicing	ELP2(NM_001242875:exon10:c.992-1G>T;NM_001242876:exon9:c.914-1G>T;NM_018255:exon9:c.797-1G>T;NM_001242878:exon8:c.719-1G>T;NM_001242877:exon8:c.719-1G>T;NM_001242879:exon6:c.587-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.797-1G>T;ENST00000351393:exon8:c.719-1G>T;ENST00000442325:exon10:c.992-1G>T;ENST00000423854:exon6:c.587-1G>T;ENST00000539560:exon9:c.797-1G>T;ENST00000350494:exon9:c.914-1G>T;ENST00000542824:exon8:c.719-1G>T)	.	.	0.999949496871441	0.94
18	33724902	G	A	18	36144939	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.G587A:p.S196N;ELP2:NM_001242875:exon10:c.G992A:p.S331N;ELP2:NM_001242878:exon8:c.G719A:p.S240N;ELP2:NM_018255:exon9:c.G797A:p.S266N;ELP2:NM_001242876:exon9:c.G914A:p.S305N;ELP2:NM_001242877:exon8:c.G719A:p.S240N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.G719A:p.S240N;ENSG00000134759:ENST00000351393:exon8:c.G719A:p.S240N;ENSG00000134759:ENST00000442325:exon10:c.G992A:p.S331N;ENSG00000134759:ENST00000350494:exon9:c.G914A:p.S305N;ENSG00000134759:ENST00000423854:exon6:c.G587A:p.S196N;ENSG00000134759:ENST00000358232:exon9:c.G797A:p.S266N;ENSG00000134759:ENST00000539560:exon9:c.G797A:p.S266N;	0.0609219384830392	0.314
18	33724902	G	C	18	36144939	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.G587C:p.S196T;ELP2:NM_001242875:exon10:c.G992C:p.S331T;ELP2:NM_001242878:exon8:c.G719C:p.S240T;ELP2:NM_018255:exon9:c.G797C:p.S266T;ELP2:NM_001242876:exon9:c.G914C:p.S305T;ELP2:NM_001242877:exon8:c.G719C:p.S240T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.G719C:p.S240T;ENSG00000134759:ENST00000351393:exon8:c.G719C:p.S240T;ENSG00000134759:ENST00000442325:exon10:c.G992C:p.S331T;ENSG00000134759:ENST00000350494:exon9:c.G914C:p.S305T;ENSG00000134759:ENST00000423854:exon6:c.G587C:p.S196T;ENSG00000134759:ENST00000358232:exon9:c.G797C:p.S266T;ENSG00000134759:ENST00000539560:exon9:c.G797C:p.S266T;	0.596715718335434	0.48
18	33724902	G	T	18	36144939	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.G587T:p.S196I;ELP2:NM_001242875:exon10:c.G992T:p.S331I;ELP2:NM_001242878:exon8:c.G719T:p.S240I;ELP2:NM_018255:exon9:c.G797T:p.S266I;ELP2:NM_001242876:exon9:c.G914T:p.S305I;ELP2:NM_001242877:exon8:c.G719T:p.S240I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.G719T:p.S240I;ENSG00000134759:ENST00000351393:exon8:c.G719T:p.S240I;ENSG00000134759:ENST00000442325:exon10:c.G992T:p.S331I;ENSG00000134759:ENST00000350494:exon9:c.G914T:p.S305I;ENSG00000134759:ENST00000423854:exon6:c.G587T:p.S196I;ENSG00000134759:ENST00000358232:exon9:c.G797T:p.S266I;ENSG00000134759:ENST00000539560:exon9:c.G797T:p.S266I;	0.972078392501772	0.87
18	33724903	T	A	18	36144940	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.T588A:p.S196R;ELP2:NM_001242875:exon10:c.T993A:p.S331R;ELP2:NM_001242878:exon8:c.T720A:p.S240R;ELP2:NM_018255:exon9:c.T798A:p.S266R;ELP2:NM_001242876:exon9:c.T915A:p.S305R;ELP2:NM_001242877:exon8:c.T720A:p.S240R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.T720A:p.S240R;ENSG00000134759:ENST00000351393:exon8:c.T720A:p.S240R;ENSG00000134759:ENST00000442325:exon10:c.T993A:p.S331R;ENSG00000134759:ENST00000350494:exon9:c.T915A:p.S305R;ENSG00000134759:ENST00000423854:exon6:c.T588A:p.S196R;ENSG00000134759:ENST00000358232:exon9:c.T798A:p.S266R;ENSG00000134759:ENST00000539560:exon9:c.T798A:p.S266R;	6.62080228940743E-4	0.036
18	33724903	T	C	18	36144940	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon6:c.T588C:p.S196S;ELP2:NM_001242875:exon10:c.T993C:p.S331S;ELP2:NM_001242878:exon8:c.T720C:p.S240S;ELP2:NM_018255:exon9:c.T798C:p.S266S;ELP2:NM_001242876:exon9:c.T915C:p.S305S;ELP2:NM_001242877:exon8:c.T720C:p.S240S;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.T720C:p.S240S;ENSG00000134759:ENST00000351393:exon8:c.T720C:p.S240S;ENSG00000134759:ENST00000442325:exon10:c.T993C:p.S331S;ENSG00000134759:ENST00000350494:exon9:c.T915C:p.S305S;ENSG00000134759:ENST00000423854:exon6:c.T588C:p.S196S;ENSG00000134759:ENST00000358232:exon9:c.T798C:p.S266S;ENSG00000134759:ENST00000539560:exon9:c.T798C:p.S266S;	0.00110008144722894	0.028
18	33724903	T	G	18	36144940	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.T588G:p.S196R;ELP2:NM_001242875:exon10:c.T993G:p.S331R;ELP2:NM_001242878:exon8:c.T720G:p.S240R;ELP2:NM_018255:exon9:c.T798G:p.S266R;ELP2:NM_001242876:exon9:c.T915G:p.S305R;ELP2:NM_001242877:exon8:c.T720G:p.S240R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.T720G:p.S240R;ENSG00000134759:ENST00000351393:exon8:c.T720G:p.S240R;ENSG00000134759:ENST00000442325:exon10:c.T993G:p.S331R;ENSG00000134759:ENST00000350494:exon9:c.T915G:p.S305R;ENSG00000134759:ENST00000423854:exon6:c.T588G:p.S196R;ENSG00000134759:ENST00000358232:exon9:c.T798G:p.S266R;ENSG00000134759:ENST00000539560:exon9:c.T798G:p.S266R;	0.00240270548058015	0.058
18	33724995	A	C	18	36145032	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.A680C:p.K227T;ELP2:NM_001242875:exon10:c.A1085C:p.K362T;ELP2:NM_001242878:exon8:c.A812C:p.K271T;ELP2:NM_018255:exon9:c.A890C:p.K297T;ELP2:NM_001242876:exon9:c.A1007C:p.K336T;ELP2:NM_001242877:exon8:c.A812C:p.K271T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.A812C:p.K271T;ENSG00000134759:ENST00000351393:exon8:c.A812C:p.K271T;ENSG00000134759:ENST00000442325:exon10:c.A1085C:p.K362T;ENSG00000134759:ENST00000350494:exon9:c.A1007C:p.K336T;ENSG00000134759:ENST00000423854:exon6:c.A680C:p.K227T;ENSG00000134759:ENST00000358232:exon9:c.A890C:p.K297T;ENSG00000134759:ENST00000539560:exon9:c.A890C:p.K297T;	2.2107273669893E-5	0.004
18	33724995	A	G	18	36145032	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.A680G:p.K227R;ELP2:NM_001242875:exon10:c.A1085G:p.K362R;ELP2:NM_001242878:exon8:c.A812G:p.K271R;ELP2:NM_018255:exon9:c.A890G:p.K297R;ELP2:NM_001242876:exon9:c.A1007G:p.K336R;ELP2:NM_001242877:exon8:c.A812G:p.K271R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.A812G:p.K271R;ENSG00000134759:ENST00000351393:exon8:c.A812G:p.K271R;ENSG00000134759:ENST00000442325:exon10:c.A1085G:p.K362R;ENSG00000134759:ENST00000350494:exon9:c.A1007G:p.K336R;ENSG00000134759:ENST00000423854:exon6:c.A680G:p.K227R;ENSG00000134759:ENST00000358232:exon9:c.A890G:p.K297R;ENSG00000134759:ENST00000539560:exon9:c.A890G:p.K297R;	3.04248829742508E-4	0.074
18	33724995	A	T	18	36145032	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.A680T:p.K227I;ELP2:NM_001242875:exon10:c.A1085T:p.K362I;ELP2:NM_001242878:exon8:c.A812T:p.K271I;ELP2:NM_018255:exon9:c.A890T:p.K297I;ELP2:NM_001242876:exon9:c.A1007T:p.K336I;ELP2:NM_001242877:exon8:c.A812T:p.K271I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.A812T:p.K271I;ENSG00000134759:ENST00000351393:exon8:c.A812T:p.K271I;ENSG00000134759:ENST00000442325:exon10:c.A1085T:p.K362I;ENSG00000134759:ENST00000350494:exon9:c.A1007T:p.K336I;ENSG00000134759:ENST00000423854:exon6:c.A680T:p.K227I;ENSG00000134759:ENST00000358232:exon9:c.A890T:p.K297I;ENSG00000134759:ENST00000539560:exon9:c.A890T:p.K297I;	0.00864421700939791	0.462
18	33724996	A	C	18	36145033	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.A681C:p.K227N;ELP2:NM_001242875:exon10:c.A1086C:p.K362N;ELP2:NM_001242878:exon8:c.A813C:p.K271N;ELP2:NM_018255:exon9:c.A891C:p.K297N;ELP2:NM_001242876:exon9:c.A1008C:p.K336N;ELP2:NM_001242877:exon8:c.A813C:p.K271N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.A813C:p.K271N;ENSG00000134759:ENST00000351393:exon8:c.A813C:p.K271N;ENSG00000134759:ENST00000442325:exon10:c.A1086C:p.K362N;ENSG00000134759:ENST00000350494:exon9:c.A1008C:p.K336N;ENSG00000134759:ENST00000423854:exon6:c.A681C:p.K227N;ENSG00000134759:ENST00000358232:exon9:c.A891C:p.K297N;ENSG00000134759:ENST00000539560:exon9:c.A891C:p.K297N;	0.999052632155652	0.956
18	33724996	A	G	18	36145033	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon6:c.A681G:p.K227K;ELP2:NM_001242875:exon10:c.A1086G:p.K362K;ELP2:NM_001242878:exon8:c.A813G:p.K271K;ELP2:NM_018255:exon9:c.A891G:p.K297K;ELP2:NM_001242876:exon9:c.A1008G:p.K336K;ELP2:NM_001242877:exon8:c.A813G:p.K271K;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.A813G:p.K271K;ENSG00000134759:ENST00000351393:exon8:c.A813G:p.K271K;ENSG00000134759:ENST00000442325:exon10:c.A1086G:p.K362K;ENSG00000134759:ENST00000350494:exon9:c.A1008G:p.K336K;ENSG00000134759:ENST00000423854:exon6:c.A681G:p.K227K;ENSG00000134759:ENST00000358232:exon9:c.A891G:p.K297K;ENSG00000134759:ENST00000539560:exon9:c.A891G:p.K297K;	0.999505393212534	0.974
18	33724996	A	T	18	36145033	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.A681T:p.K227N;ELP2:NM_001242875:exon10:c.A1086T:p.K362N;ELP2:NM_001242878:exon8:c.A813T:p.K271N;ELP2:NM_018255:exon9:c.A891T:p.K297N;ELP2:NM_001242876:exon9:c.A1008T:p.K336N;ELP2:NM_001242877:exon8:c.A813T:p.K271N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.A813T:p.K271N;ENSG00000134759:ENST00000351393:exon8:c.A813T:p.K271N;ENSG00000134759:ENST00000442325:exon10:c.A1086T:p.K362N;ENSG00000134759:ENST00000350494:exon9:c.A1008T:p.K336N;ENSG00000134759:ENST00000423854:exon6:c.A681T:p.K227N;ENSG00000134759:ENST00000358232:exon9:c.A891T:p.K297N;ENSG00000134759:ENST00000539560:exon9:c.A891T:p.K297N;	0.999612444296526	0.966
18	33724997	G	A	18	36145034	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.G682A:p.D228N;ELP2:NM_001242875:exon10:c.G1087A:p.D363N;ELP2:NM_001242878:exon8:c.G814A:p.D272N;ELP2:NM_018255:exon9:c.G892A:p.D298N;ELP2:NM_001242876:exon9:c.G1009A:p.D337N;ELP2:NM_001242877:exon8:c.G814A:p.D272N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.G814A:p.D272N;ENSG00000134759:ENST00000351393:exon8:c.G814A:p.D272N;ENSG00000134759:ENST00000442325:exon10:c.G1087A:p.D363N;ENSG00000134759:ENST00000350494:exon9:c.G1009A:p.D337N;ENSG00000134759:ENST00000423854:exon6:c.G682A:p.D228N;ENSG00000134759:ENST00000358232:exon9:c.G892A:p.D298N;ENSG00000134759:ENST00000539560:exon9:c.G892A:p.D298N;	0.99998879807578	0.994
18	33724997	G	C	18	36145034	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.G682C:p.D228H;ELP2:NM_001242875:exon10:c.G1087C:p.D363H;ELP2:NM_001242878:exon8:c.G814C:p.D272H;ELP2:NM_018255:exon9:c.G892C:p.D298H;ELP2:NM_001242876:exon9:c.G1009C:p.D337H;ELP2:NM_001242877:exon8:c.G814C:p.D272H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.G814C:p.D272H;ENSG00000134759:ENST00000351393:exon8:c.G814C:p.D272H;ENSG00000134759:ENST00000442325:exon10:c.G1087C:p.D363H;ENSG00000134759:ENST00000350494:exon9:c.G1009C:p.D337H;ENSG00000134759:ENST00000423854:exon6:c.G682C:p.D228H;ENSG00000134759:ENST00000358232:exon9:c.G892C:p.D298H;ENSG00000134759:ENST00000539560:exon9:c.G892C:p.D298H;	0.999996841290077	0.998
18	33724997	G	T	18	36145034	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon6:c.G682T:p.D228Y;ELP2:NM_001242875:exon10:c.G1087T:p.D363Y;ELP2:NM_001242878:exon8:c.G814T:p.D272Y;ELP2:NM_018255:exon9:c.G892T:p.D298Y;ELP2:NM_001242876:exon9:c.G1009T:p.D337Y;ELP2:NM_001242877:exon8:c.G814T:p.D272Y;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon8:c.G814T:p.D272Y;ENSG00000134759:ENST00000351393:exon8:c.G814T:p.D272Y;ENSG00000134759:ENST00000442325:exon10:c.G1087T:p.D363Y;ENSG00000134759:ENST00000350494:exon9:c.G1009T:p.D337Y;ENSG00000134759:ENST00000423854:exon6:c.G682T:p.D228Y;ENSG00000134759:ENST00000358232:exon9:c.G892T:p.D298Y;ENSG00000134759:ENST00000539560:exon9:c.G892T:p.D298Y;	0.999990067529978	0.998
18	33724998	G	A	18	36145035	y	y	splicing	ELP2(NM_001242875:exon10:c.1087+1G>A;NM_001242876:exon9:c.1009+1G>A;NM_018255:exon9:c.892+1G>A;NM_001242878:exon8:c.814+1G>A;NM_001242877:exon8:c.814+1G>A;NM_001242879:exon6:c.682+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.892+1G>A;ENST00000351393:exon8:c.814+1G>A;ENST00000442325:exon10:c.1087+1G>A;ENST00000423854:exon6:c.682+1G>A;ENST00000539560:exon9:c.892+1G>A;ENST00000350494:exon9:c.1009+1G>A;ENST00000542824:exon8:c.814+1G>A)	.	.	0.999989072007339	0.928
18	33724998	G	C	18	36145035	y	y	splicing	ELP2(NM_001242875:exon10:c.1087+1G>C;NM_001242876:exon9:c.1009+1G>C;NM_018255:exon9:c.892+1G>C;NM_001242878:exon8:c.814+1G>C;NM_001242877:exon8:c.814+1G>C;NM_001242879:exon6:c.682+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.892+1G>C;ENST00000351393:exon8:c.814+1G>C;ENST00000442325:exon10:c.1087+1G>C;ENST00000423854:exon6:c.682+1G>C;ENST00000539560:exon9:c.892+1G>C;ENST00000350494:exon9:c.1009+1G>C;ENST00000542824:exon8:c.814+1G>C)	.	.	0.999989072007339	0.926
18	33724998	G	T	18	36145035	y	y	splicing	ELP2(NM_001242875:exon10:c.1087+1G>T;NM_001242876:exon9:c.1009+1G>T;NM_018255:exon9:c.892+1G>T;NM_001242878:exon8:c.814+1G>T;NM_001242877:exon8:c.814+1G>T;NM_001242879:exon6:c.682+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.892+1G>T;ENST00000351393:exon8:c.814+1G>T;ENST00000442325:exon10:c.1087+1G>T;ENST00000423854:exon6:c.682+1G>T;ENST00000539560:exon9:c.892+1G>T;ENST00000350494:exon9:c.1009+1G>T;ENST00000542824:exon8:c.814+1G>T)	.	.	0.999989072007339	0.928
18	33724999	T	A	18	36145036	y	y	splicing	ELP2(NM_001242875:exon10:c.1087+2T>A;NM_001242876:exon9:c.1009+2T>A;NM_018255:exon9:c.892+2T>A;NM_001242878:exon8:c.814+2T>A;NM_001242877:exon8:c.814+2T>A;NM_001242879:exon6:c.682+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.892+2T>A;ENST00000351393:exon8:c.814+2T>A;ENST00000442325:exon10:c.1087+2T>A;ENST00000423854:exon6:c.682+2T>A;ENST00000539560:exon9:c.892+2T>A;ENST00000350494:exon9:c.1009+2T>A;ENST00000542824:exon8:c.814+2T>A)	.	.	0.999988247793601	0.932
18	33724999	T	C	18	36145036	y	y	splicing	ELP2(NM_001242875:exon10:c.1087+2T>C;NM_001242876:exon9:c.1009+2T>C;NM_018255:exon9:c.892+2T>C;NM_001242878:exon8:c.814+2T>C;NM_001242877:exon8:c.814+2T>C;NM_001242879:exon6:c.682+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.892+2T>C;ENST00000351393:exon8:c.814+2T>C;ENST00000442325:exon10:c.1087+2T>C;ENST00000423854:exon6:c.682+2T>C;ENST00000539560:exon9:c.892+2T>C;ENST00000350494:exon9:c.1009+2T>C;ENST00000542824:exon8:c.814+2T>C)	.	.	0.99295178357233	0.646
18	33724999	T	G	18	36145036	y	y	splicing	ELP2(NM_001242875:exon10:c.1087+2T>G;NM_001242876:exon9:c.1009+2T>G;NM_018255:exon9:c.892+2T>G;NM_001242878:exon8:c.814+2T>G;NM_001242877:exon8:c.814+2T>G;NM_001242879:exon6:c.682+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon9:c.892+2T>G;ENST00000351393:exon8:c.814+2T>G;ENST00000442325:exon10:c.1087+2T>G;ENST00000423854:exon6:c.682+2T>G;ENST00000539560:exon9:c.892+2T>G;ENST00000350494:exon9:c.1009+2T>G;ENST00000542824:exon8:c.814+2T>G)	.	.	0.999988247793601	0.932
18	33725000	A	C	18	36145037	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998262676780147	0.94
18	33725000	A	G	18	36145037	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99567308826896	0.884
18	33725000	A	T	18	36145037	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996530205544743	0.928
18	33725001	G	A	18	36145038	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.52473041621998E-4	0.038
18	33725001	G	C	18	36145038	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.2956674688988E-4	0.104
18	33725001	G	T	18	36145038	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.23188255652248E-4	0.038
18	33725002	G	A	18	36145039	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.964737814368405	0.724
18	33725002	G	C	18	36145039	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.981035092457098	0.782
18	33725002	G	T	18	36145039	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999907933093051	0.916
18	33725003	A	C	18	36145040	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00117275095354304	0.074
18	33725003	A	G	18	36145040	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.69355594739772E-4	0.03
18	33725003	A	T	18	36145040	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.14924408617613E-4	0.004
18	33725004	A	C	18	36145041	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.74610351848636E-4	0.0
18	33725004	A	G	18	36145041	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.15058302784602E-4	0.004
18	33725004	A	T	18	36145041	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.03069013336588E-4	0.0
18	33725005	G	A	18	36145042	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.59620847629695E-4	0.004
18	33725005	G	C	18	36145042	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.35281833407758E-4	0.0
18	33725005	G	T	18	36145042	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.35281833407758E-4	0.0
18	33725899	T	A	18	36145936	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995872534426175	0.748
18	33725899	T	C	18	36145936	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.172145989900961	0.252
18	33725899	T	G	18	36145936	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.989448618543171	0.692
18	33725900	T	A	18	36145937	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.957476720340561	0.674
18	33725900	T	C	18	36145937	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.103407791835282	0.262
18	33725900	T	G	18	36145937	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.76508799756992	0.544
18	33725901	T	A	18	36145938	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999017482057796	0.816
18	33725901	T	C	18	36145938	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.110844596606542	0.312
18	33725901	T	G	18	36145938	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997622858577523	0.77
18	33725902	A	C	18	36145939	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.08097372698272E-5	0.078
18	33725902	A	G	18	36145939	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.98085876546555E-5	0.016
18	33725902	A	T	18	36145939	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.90252330120278E-4	0.072
18	33725903	T	A	18	36145940	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.129018908548835	0.36
18	33725903	T	C	18	36145940	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00119701886279025	0.052
18	33725903	T	G	18	36145940	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99961705805578	0.958
18	33725904	T	A	18	36145941	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.224438758595524	0.402
18	33725904	T	C	18	36145941	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00360097917392445	0.048
18	33725904	T	G	18	36145941	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.107531305907634	0.328
18	33725905	T	A	18	36145942	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.217867482558984	0.336
18	33725905	T	C	18	36145942	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.62989443680948E-4	0.044
18	33725905	T	G	18	36145942	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.259211448068593	0.38
18	33725906	T	A	18	36145943	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.916470542402213	0.566
18	33725906	T	C	18	36145943	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00810426609847425	0.102
18	33725906	T	G	18	36145943	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.930513200258627	0.55
18	33725907	T	A	18	36145944	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0183651166328092	0.132
18	33725907	T	C	18	36145944	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00408679433754794	0.022
18	33725907	T	G	18	36145944	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0222630547459626	0.136
18	33725908	T	A	18	36145945	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0426450179580663	0.27
18	33725908	T	C	18	36145945	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.85962728133242E-4	0.04
18	33725908	T	G	18	36145945	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.98711327551388	0.656
18	33725909	A	C	18	36145946	y	y	splicing	ELP2(NM_001242875:exon11:c.1088-2A>C;NM_001242876:exon10:c.1010-2A>C;NM_018255:exon10:c.893-2A>C;NM_001242878:exon9:c.815-2A>C;NM_001242877:exon9:c.815-2A>C;NM_001242879:exon7:c.683-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.893-2A>C;ENST00000351393:exon9:c.815-2A>C;ENST00000442325:exon11:c.1088-2A>C;ENST00000423854:exon7:c.683-2A>C;ENST00000539560:exon10:c.893-2A>C;ENST00000350494:exon10:c.1010-2A>C;ENST00000542824:exon9:c.815-2A>C)	.	.	0.999992446697775	0.926
18	33725909	A	G	18	36145946	y	y	splicing	ELP2(NM_001242875:exon11:c.1088-2A>G;NM_001242876:exon10:c.1010-2A>G;NM_018255:exon10:c.893-2A>G;NM_001242878:exon9:c.815-2A>G;NM_001242877:exon9:c.815-2A>G;NM_001242879:exon7:c.683-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.893-2A>G;ENST00000351393:exon9:c.815-2A>G;ENST00000442325:exon11:c.1088-2A>G;ENST00000423854:exon7:c.683-2A>G;ENST00000539560:exon10:c.893-2A>G;ENST00000350494:exon10:c.1010-2A>G;ENST00000542824:exon9:c.815-2A>G)	.	.	0.999992446697775	0.926
18	33725909	A	T	18	36145946	y	y	splicing	ELP2(NM_001242875:exon11:c.1088-2A>T;NM_001242876:exon10:c.1010-2A>T;NM_018255:exon10:c.893-2A>T;NM_001242878:exon9:c.815-2A>T;NM_001242877:exon9:c.815-2A>T;NM_001242879:exon7:c.683-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.893-2A>T;ENST00000351393:exon9:c.815-2A>T;ENST00000442325:exon11:c.1088-2A>T;ENST00000423854:exon7:c.683-2A>T;ENST00000539560:exon10:c.893-2A>T;ENST00000350494:exon10:c.1010-2A>T;ENST00000542824:exon9:c.815-2A>T)	.	.	0.999992446697775	0.928
18	33725910	G	A	18	36145947	y	y	splicing	ELP2(NM_001242875:exon11:c.1088-1G>A;NM_001242876:exon10:c.1010-1G>A;NM_018255:exon10:c.893-1G>A;NM_001242878:exon9:c.815-1G>A;NM_001242877:exon9:c.815-1G>A;NM_001242879:exon7:c.683-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.893-1G>A;ENST00000351393:exon9:c.815-1G>A;ENST00000442325:exon11:c.1088-1G>A;ENST00000423854:exon7:c.683-1G>A;ENST00000539560:exon10:c.893-1G>A;ENST00000350494:exon10:c.1010-1G>A;ENST00000542824:exon9:c.815-1G>A)	.	.	0.999992446697775	0.924
18	33725910	G	C	18	36145947	y	y	splicing	ELP2(NM_001242875:exon11:c.1088-1G>C;NM_001242876:exon10:c.1010-1G>C;NM_018255:exon10:c.893-1G>C;NM_001242878:exon9:c.815-1G>C;NM_001242877:exon9:c.815-1G>C;NM_001242879:exon7:c.683-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.893-1G>C;ENST00000351393:exon9:c.815-1G>C;ENST00000442325:exon11:c.1088-1G>C;ENST00000423854:exon7:c.683-1G>C;ENST00000539560:exon10:c.893-1G>C;ENST00000350494:exon10:c.1010-1G>C;ENST00000542824:exon9:c.815-1G>C)	.	.	0.999992446697775	0.924
18	33725910	G	T	18	36145947	y	y	splicing	ELP2(NM_001242875:exon11:c.1088-1G>T;NM_001242876:exon10:c.1010-1G>T;NM_018255:exon10:c.893-1G>T;NM_001242878:exon9:c.815-1G>T;NM_001242877:exon9:c.815-1G>T;NM_001242879:exon7:c.683-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.893-1G>T;ENST00000351393:exon9:c.815-1G>T;ENST00000442325:exon11:c.1088-1G>T;ENST00000423854:exon7:c.683-1G>T;ENST00000539560:exon10:c.893-1G>T;ENST00000350494:exon10:c.1010-1G>T;ENST00000542824:exon9:c.815-1G>T)	.	.	0.999992446697775	0.924
18	33725911	A	C	18	36145948	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.A683C:p.D228A;ELP2:NM_001242875:exon11:c.A1088C:p.D363A;ELP2:NM_001242878:exon9:c.A815C:p.D272A;ELP2:NM_018255:exon10:c.A893C:p.D298A;ELP2:NM_001242876:exon10:c.A1010C:p.D337A;ELP2:NM_001242877:exon9:c.A815C:p.D272A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.A815C:p.D272A;ENSG00000134759:ENST00000351393:exon9:c.A815C:p.D272A;ENSG00000134759:ENST00000442325:exon11:c.A1088C:p.D363A;ENSG00000134759:ENST00000350494:exon10:c.A1010C:p.D337A;ENSG00000134759:ENST00000423854:exon7:c.A683C:p.D228A;ENSG00000134759:ENST00000358232:exon10:c.A893C:p.D298A;ENSG00000134759:ENST00000539560:exon10:c.A893C:p.D298A;	0.00238617516780849	0.112
18	33725911	A	G	18	36145948	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.A683G:p.D228G;ELP2:NM_001242875:exon11:c.A1088G:p.D363G;ELP2:NM_001242878:exon9:c.A815G:p.D272G;ELP2:NM_018255:exon10:c.A893G:p.D298G;ELP2:NM_001242876:exon10:c.A1010G:p.D337G;ELP2:NM_001242877:exon9:c.A815G:p.D272G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.A815G:p.D272G;ENSG00000134759:ENST00000351393:exon9:c.A815G:p.D272G;ENSG00000134759:ENST00000442325:exon11:c.A1088G:p.D363G;ENSG00000134759:ENST00000350494:exon10:c.A1010G:p.D337G;ENSG00000134759:ENST00000423854:exon7:c.A683G:p.D228G;ENSG00000134759:ENST00000358232:exon10:c.A893G:p.D298G;ENSG00000134759:ENST00000539560:exon10:c.A893G:p.D298G;	6.60314203749053E-4	0.012
18	33725911	A	T	18	36145948	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.A683T:p.D228V;ELP2:NM_001242875:exon11:c.A1088T:p.D363V;ELP2:NM_001242878:exon9:c.A815T:p.D272V;ELP2:NM_018255:exon10:c.A893T:p.D298V;ELP2:NM_001242876:exon10:c.A1010T:p.D337V;ELP2:NM_001242877:exon9:c.A815T:p.D272V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.A815T:p.D272V;ENSG00000134759:ENST00000351393:exon9:c.A815T:p.D272V;ENSG00000134759:ENST00000442325:exon11:c.A1088T:p.D363V;ENSG00000134759:ENST00000350494:exon10:c.A1010T:p.D337V;ENSG00000134759:ENST00000423854:exon7:c.A683T:p.D228V;ENSG00000134759:ENST00000358232:exon10:c.A893T:p.D298V;ENSG00000134759:ENST00000539560:exon10:c.A893T:p.D298V;	0.00673752847017503	0.22
18	33725912	T	A	18	36145949	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.T684A:p.D228E;ELP2:NM_001242875:exon11:c.T1089A:p.D363E;ELP2:NM_001242878:exon9:c.T816A:p.D272E;ELP2:NM_018255:exon10:c.T894A:p.D298E;ELP2:NM_001242876:exon10:c.T1011A:p.D337E;ELP2:NM_001242877:exon9:c.T816A:p.D272E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.T816A:p.D272E;ENSG00000134759:ENST00000351393:exon9:c.T816A:p.D272E;ENSG00000134759:ENST00000442325:exon11:c.T1089A:p.D363E;ENSG00000134759:ENST00000350494:exon10:c.T1011A:p.D337E;ENSG00000134759:ENST00000423854:exon7:c.T684A:p.D228E;ENSG00000134759:ENST00000358232:exon10:c.T894A:p.D298E;ENSG00000134759:ENST00000539560:exon10:c.T894A:p.D298E;	0.357388112243416	0.33
18	33725912	T	C	18	36145949	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon7:c.T684C:p.D228D;ELP2:NM_001242875:exon11:c.T1089C:p.D363D;ELP2:NM_001242878:exon9:c.T816C:p.D272D;ELP2:NM_018255:exon10:c.T894C:p.D298D;ELP2:NM_001242876:exon10:c.T1011C:p.D337D;ELP2:NM_001242877:exon9:c.T816C:p.D272D;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.T816C:p.D272D;ENSG00000134759:ENST00000351393:exon9:c.T816C:p.D272D;ENSG00000134759:ENST00000442325:exon11:c.T1089C:p.D363D;ENSG00000134759:ENST00000350494:exon10:c.T1011C:p.D337D;ENSG00000134759:ENST00000423854:exon7:c.T684C:p.D228D;ENSG00000134759:ENST00000358232:exon10:c.T894C:p.D298D;ENSG00000134759:ENST00000539560:exon10:c.T894C:p.D298D;	0.0479834618201031	0.108
18	33725912	T	G	18	36145949	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.T684G:p.D228E;ELP2:NM_001242875:exon11:c.T1089G:p.D363E;ELP2:NM_001242878:exon9:c.T816G:p.D272E;ELP2:NM_018255:exon10:c.T894G:p.D298E;ELP2:NM_001242876:exon10:c.T1011G:p.D337E;ELP2:NM_001242877:exon9:c.T816G:p.D272E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.T816G:p.D272E;ENSG00000134759:ENST00000351393:exon9:c.T816G:p.D272E;ENSG00000134759:ENST00000442325:exon11:c.T1089G:p.D363E;ENSG00000134759:ENST00000350494:exon10:c.T1011G:p.D337E;ENSG00000134759:ENST00000423854:exon7:c.T684G:p.D228E;ENSG00000134759:ENST00000358232:exon10:c.T894G:p.D298E;ENSG00000134759:ENST00000539560:exon10:c.T894G:p.D298E;	0.272585776754888	0.352
18	33726009	C	A	18	36146046	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.C781A:p.Q261K;ELP2:NM_001242875:exon11:c.C1186A:p.Q396K;ELP2:NM_001242878:exon9:c.C913A:p.Q305K;ELP2:NM_018255:exon10:c.C991A:p.Q331K;ELP2:NM_001242876:exon10:c.C1108A:p.Q370K;ELP2:NM_001242877:exon9:c.C913A:p.Q305K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.C913A:p.Q305K;ENSG00000134759:ENST00000351393:exon9:c.C913A:p.Q305K;ENSG00000134759:ENST00000442325:exon11:c.C1186A:p.Q396K;ENSG00000134759:ENST00000350494:exon10:c.C1108A:p.Q370K;ENSG00000134759:ENST00000423854:exon7:c.C781A:p.Q261K;ENSG00000134759:ENST00000358232:exon10:c.C991A:p.Q331K;ENSG00000134759:ENST00000539560:exon10:c.C991A:p.Q331K;	8.25741759228275E-5	0.154
18	33726009	C	G	18	36146046	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.C781G:p.Q261E;ELP2:NM_001242875:exon11:c.C1186G:p.Q396E;ELP2:NM_001242878:exon9:c.C913G:p.Q305E;ELP2:NM_018255:exon10:c.C991G:p.Q331E;ELP2:NM_001242876:exon10:c.C1108G:p.Q370E;ELP2:NM_001242877:exon9:c.C913G:p.Q305E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.C913G:p.Q305E;ENSG00000134759:ENST00000351393:exon9:c.C913G:p.Q305E;ENSG00000134759:ENST00000442325:exon11:c.C1186G:p.Q396E;ENSG00000134759:ENST00000350494:exon10:c.C1108G:p.Q370E;ENSG00000134759:ENST00000423854:exon7:c.C781G:p.Q261E;ENSG00000134759:ENST00000358232:exon10:c.C991G:p.Q331E;ENSG00000134759:ENST00000539560:exon10:c.C991G:p.Q331E;	2.43055008209321E-4	0.112
18	33726009	C	T	18	36146046	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon7:c.C781T:p.Q261X;ELP2:NM_001242875:exon11:c.C1186T:p.Q396X;ELP2:NM_001242878:exon9:c.C913T:p.Q305X;ELP2:NM_018255:exon10:c.C991T:p.Q331X;ELP2:NM_001242876:exon10:c.C1108T:p.Q370X;ELP2:NM_001242877:exon9:c.C913T:p.Q305X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon9:c.C913T:p.Q305X;ENSG00000134759:ENST00000351393:exon9:c.C913T:p.Q305X;ENSG00000134759:ENST00000442325:exon11:c.C1186T:p.Q396X;ENSG00000134759:ENST00000350494:exon10:c.C1108T:p.Q370X;ENSG00000134759:ENST00000423854:exon7:c.C781T:p.Q261X;ENSG00000134759:ENST00000358232:exon10:c.C991T:p.Q331X;ENSG00000134759:ENST00000539560:exon10:c.C991T:p.Q331X;	0.957378467988329	0.666
18	33726010	A	C	18	36146047	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.A782C:p.Q261P;ELP2:NM_001242875:exon11:c.A1187C:p.Q396P;ELP2:NM_001242878:exon9:c.A914C:p.Q305P;ELP2:NM_018255:exon10:c.A992C:p.Q331P;ELP2:NM_001242876:exon10:c.A1109C:p.Q370P;ELP2:NM_001242877:exon9:c.A914C:p.Q305P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.A914C:p.Q305P;ENSG00000134759:ENST00000351393:exon9:c.A914C:p.Q305P;ENSG00000134759:ENST00000442325:exon11:c.A1187C:p.Q396P;ENSG00000134759:ENST00000350494:exon10:c.A1109C:p.Q370P;ENSG00000134759:ENST00000423854:exon7:c.A782C:p.Q261P;ENSG00000134759:ENST00000358232:exon10:c.A992C:p.Q331P;ENSG00000134759:ENST00000539560:exon10:c.A992C:p.Q331P;	0.938176756847524	0.746
18	33726010	A	G	18	36146047	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.A782G:p.Q261R;ELP2:NM_001242875:exon11:c.A1187G:p.Q396R;ELP2:NM_001242878:exon9:c.A914G:p.Q305R;ELP2:NM_018255:exon10:c.A992G:p.Q331R;ELP2:NM_001242876:exon10:c.A1109G:p.Q370R;ELP2:NM_001242877:exon9:c.A914G:p.Q305R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.A914G:p.Q305R;ENSG00000134759:ENST00000351393:exon9:c.A914G:p.Q305R;ENSG00000134759:ENST00000442325:exon11:c.A1187G:p.Q396R;ENSG00000134759:ENST00000350494:exon10:c.A1109G:p.Q370R;ENSG00000134759:ENST00000423854:exon7:c.A782G:p.Q261R;ENSG00000134759:ENST00000358232:exon10:c.A992G:p.Q331R;ENSG00000134759:ENST00000539560:exon10:c.A992G:p.Q331R;	0.987369714835173	0.724
18	33726010	A	T	18	36146047	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.A782T:p.Q261L;ELP2:NM_001242875:exon11:c.A1187T:p.Q396L;ELP2:NM_001242878:exon9:c.A914T:p.Q305L;ELP2:NM_018255:exon10:c.A992T:p.Q331L;ELP2:NM_001242876:exon10:c.A1109T:p.Q370L;ELP2:NM_001242877:exon9:c.A914T:p.Q305L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.A914T:p.Q305L;ENSG00000134759:ENST00000351393:exon9:c.A914T:p.Q305L;ENSG00000134759:ENST00000442325:exon11:c.A1187T:p.Q396L;ENSG00000134759:ENST00000350494:exon10:c.A1109T:p.Q370L;ENSG00000134759:ENST00000423854:exon7:c.A782T:p.Q261L;ENSG00000134759:ENST00000358232:exon10:c.A992T:p.Q331L;ENSG00000134759:ENST00000539560:exon10:c.A992T:p.Q331L;	0.993025850110407	0.94
18	33726011	G	A	18	36146048	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon7:c.G783A:p.Q261Q;ELP2:NM_001242875:exon11:c.G1188A:p.Q396Q;ELP2:NM_001242878:exon9:c.G915A:p.Q305Q;ELP2:NM_018255:exon10:c.G993A:p.Q331Q;ELP2:NM_001242876:exon10:c.G1110A:p.Q370Q;ELP2:NM_001242877:exon9:c.G915A:p.Q305Q;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.G915A:p.Q305Q;ENSG00000134759:ENST00000351393:exon9:c.G915A:p.Q305Q;ENSG00000134759:ENST00000442325:exon11:c.G1188A:p.Q396Q;ENSG00000134759:ENST00000350494:exon10:c.G1110A:p.Q370Q;ENSG00000134759:ENST00000423854:exon7:c.G783A:p.Q261Q;ENSG00000134759:ENST00000358232:exon10:c.G993A:p.Q331Q;ENSG00000134759:ENST00000539560:exon10:c.G993A:p.Q331Q;	0.999974206447751	0.982
18	33726011	G	C	18	36146048	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.G783C:p.Q261H;ELP2:NM_001242875:exon11:c.G1188C:p.Q396H;ELP2:NM_001242878:exon9:c.G915C:p.Q305H;ELP2:NM_018255:exon10:c.G993C:p.Q331H;ELP2:NM_001242876:exon10:c.G1110C:p.Q370H;ELP2:NM_001242877:exon9:c.G915C:p.Q305H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.G915C:p.Q305H;ENSG00000134759:ENST00000351393:exon9:c.G915C:p.Q305H;ENSG00000134759:ENST00000442325:exon11:c.G1188C:p.Q396H;ENSG00000134759:ENST00000350494:exon10:c.G1110C:p.Q370H;ENSG00000134759:ENST00000423854:exon7:c.G783C:p.Q261H;ENSG00000134759:ENST00000358232:exon10:c.G993C:p.Q331H;ENSG00000134759:ENST00000539560:exon10:c.G993C:p.Q331H;	0.999998045536781	0.994
18	33726011	G	T	18	36146048	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon7:c.G783T:p.Q261H;ELP2:NM_001242875:exon11:c.G1188T:p.Q396H;ELP2:NM_001242878:exon9:c.G915T:p.Q305H;ELP2:NM_018255:exon10:c.G993T:p.Q331H;ELP2:NM_001242876:exon10:c.G1110T:p.Q370H;ELP2:NM_001242877:exon9:c.G915T:p.Q305H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon9:c.G915T:p.Q305H;ENSG00000134759:ENST00000351393:exon9:c.G915T:p.Q305H;ENSG00000134759:ENST00000442325:exon11:c.G1188T:p.Q396H;ENSG00000134759:ENST00000350494:exon10:c.G1110T:p.Q370H;ENSG00000134759:ENST00000423854:exon7:c.G783T:p.Q261H;ENSG00000134759:ENST00000358232:exon10:c.G993T:p.Q331H;ENSG00000134759:ENST00000539560:exon10:c.G993T:p.Q331H;	0.999989398094008	1.0
18	33726012	G	A	18	36146049	y	y	splicing	ELP2(NM_001242875:exon11:c.1188+1G>A;NM_001242876:exon10:c.1110+1G>A;NM_018255:exon10:c.993+1G>A;NM_001242878:exon9:c.915+1G>A;NM_001242877:exon9:c.915+1G>A;NM_001242879:exon7:c.783+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.993+1G>A;ENST00000351393:exon9:c.915+1G>A;ENST00000442325:exon11:c.1188+1G>A;ENST00000423854:exon7:c.783+1G>A;ENST00000539560:exon10:c.993+1G>A;ENST00000350494:exon10:c.1110+1G>A;ENST00000542824:exon9:c.915+1G>A)	.	.	0.999965414246739	0.94
18	33726012	G	C	18	36146049	y	y	splicing	ELP2(NM_001242875:exon11:c.1188+1G>C;NM_001242876:exon10:c.1110+1G>C;NM_018255:exon10:c.993+1G>C;NM_001242878:exon9:c.915+1G>C;NM_001242877:exon9:c.915+1G>C;NM_001242879:exon7:c.783+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.993+1G>C;ENST00000351393:exon9:c.915+1G>C;ENST00000442325:exon11:c.1188+1G>C;ENST00000423854:exon7:c.783+1G>C;ENST00000539560:exon10:c.993+1G>C;ENST00000350494:exon10:c.1110+1G>C;ENST00000542824:exon9:c.915+1G>C)	.	.	0.999965414246739	0.934
18	33726012	G	T	18	36146049	y	y	splicing	ELP2(NM_001242875:exon11:c.1188+1G>T;NM_001242876:exon10:c.1110+1G>T;NM_018255:exon10:c.993+1G>T;NM_001242878:exon9:c.915+1G>T;NM_001242877:exon9:c.915+1G>T;NM_001242879:exon7:c.783+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.993+1G>T;ENST00000351393:exon9:c.915+1G>T;ENST00000442325:exon11:c.1188+1G>T;ENST00000423854:exon7:c.783+1G>T;ENST00000539560:exon10:c.993+1G>T;ENST00000350494:exon10:c.1110+1G>T;ENST00000542824:exon9:c.915+1G>T)	.	.	0.999965414246739	0.938
18	33726013	T	A	18	36146050	y	y	splicing	ELP2(NM_001242875:exon11:c.1188+2T>A;NM_001242876:exon10:c.1110+2T>A;NM_018255:exon10:c.993+2T>A;NM_001242878:exon9:c.915+2T>A;NM_001242877:exon9:c.915+2T>A;NM_001242879:exon7:c.783+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.993+2T>A;ENST00000351393:exon9:c.915+2T>A;ENST00000442325:exon11:c.1188+2T>A;ENST00000423854:exon7:c.783+2T>A;ENST00000539560:exon10:c.993+2T>A;ENST00000350494:exon10:c.1110+2T>A;ENST00000542824:exon9:c.915+2T>A)	.	.	0.999981535500952	0.934
18	33726013	T	C	18	36146050	y	y	splicing	ELP2(NM_001242875:exon11:c.1188+2T>C;NM_001242876:exon10:c.1110+2T>C;NM_018255:exon10:c.993+2T>C;NM_001242878:exon9:c.915+2T>C;NM_001242877:exon9:c.915+2T>C;NM_001242879:exon7:c.783+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.993+2T>C;ENST00000351393:exon9:c.915+2T>C;ENST00000442325:exon11:c.1188+2T>C;ENST00000423854:exon7:c.783+2T>C;ENST00000539560:exon10:c.993+2T>C;ENST00000350494:exon10:c.1110+2T>C;ENST00000542824:exon9:c.915+2T>C)	.	.	0.992911530517329	0.6
18	33726013	T	G	18	36146050	y	y	splicing	ELP2(NM_001242875:exon11:c.1188+2T>G;NM_001242876:exon10:c.1110+2T>G;NM_018255:exon10:c.993+2T>G;NM_001242878:exon9:c.915+2T>G;NM_001242877:exon9:c.915+2T>G;NM_001242879:exon7:c.783+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon10:c.993+2T>G;ENST00000351393:exon9:c.915+2T>G;ENST00000442325:exon11:c.1188+2T>G;ENST00000423854:exon7:c.783+2T>G;ENST00000539560:exon10:c.993+2T>G;ENST00000350494:exon10:c.1110+2T>G;ENST00000542824:exon9:c.915+2T>G)	.	.	0.999981535500952	0.932
18	33726014	A	C	18	36146051	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999517101306612	0.79
18	33726014	A	G	18	36146051	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.937250616416293	0.588
18	33726014	A	T	18	36146051	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998936643958108	0.76
18	33726015	A	C	18	36146052	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.740581654336429	0.448
18	33726015	A	G	18	36146052	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.774808373889901	0.52
18	33726015	A	T	18	36146052	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.757674202952466	0.506
18	33726016	A	C	18	36146053	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.45366875333836E-5	0.008
18	33726016	A	G	18	36146053	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.8014848644685E-5	0.01
18	33726016	A	T	18	36146053	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.93144732870255E-5	0.006
18	33726017	A	C	18	36146054	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.41057621119526E-4	0.034
18	33726017	A	G	18	36146054	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.43704242579754E-5	0.006
18	33726017	A	T	18	36146054	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.39568041165979E-5	0.016
18	33726018	A	C	18	36146055	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.61563551587489E-5	0.0
18	33726018	A	G	18	36146055	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.56742465316469E-5	0.0
18	33726018	A	T	18	36146055	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.22016711542009E-5	0.0
18	33726019	T	A	18	36146056	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.94061455097376E-5	0.03
18	33726019	T	C	18	36146056	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.26125093991882E-5	0.018
18	33726019	T	G	18	36146056	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.16595428443146E-4	0.04
18	33726201	G	A	18	36146238	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.16931646061314E-4	0.032
18	33726201	G	C	18	36146238	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.25030533899025E-5	0.0
18	33726201	G	T	18	36146238	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.31118908374291E-5	0.008
18	33726202	T	A	18	36146239	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.970212829257457	0.66
18	33726202	T	C	18	36146239	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0591246867114857	0.248
18	33726202	T	G	18	36146239	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.95390037618559	0.598
18	33726203	T	A	18	36146240	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.112815786179921	0.28
18	33726203	T	C	18	36146240	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.81605514231987E-4	0.046
18	33726203	T	G	18	36146240	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00742284062994525	0.278
18	33726204	A	C	18	36146241	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.11769047727035E-5	0.022
18	33726204	A	G	18	36146241	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.54467115503168E-4	0.02
18	33726204	A	T	18	36146241	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.56475894918536E-5	0.056
18	33726205	T	A	18	36146242	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00927094902172646	0.082
18	33726205	T	C	18	36146242	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.26794642846611E-5	0.006
18	33726205	T	G	18	36146242	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999840874615098	0.968
18	33726206	T	A	18	36146243	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999608953918012	0.964
18	33726206	T	C	18	36146243	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.3980421080741E-4	0.01
18	33726206	T	G	18	36146243	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0357040009783524	0.188
18	33726207	G	A	18	36146244	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.21273182934119E-4	0.004
18	33726207	G	C	18	36146244	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.99561692099257E-4	0.012
18	33726207	G	T	18	36146244	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.85436392717527E-4	0.016
18	33726208	T	A	18	36146245	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.437512001863694	0.454
18	33726208	T	C	18	36146245	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.56850323170974E-4	0.054
18	33726208	T	G	18	36146245	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.418871754103436	0.42
18	33726209	A	C	18	36146246	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.98337614140271E-5	0.004
18	33726209	A	G	18	36146246	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.93356572533667E-5	0.002
18	33726209	A	T	18	36146246	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.66835524625001E-5	0.004
18	33726210	C	A	18	36146247	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.361558396281327	0.514
18	33726210	C	G	18	36146247	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99962957269398	0.932
18	33726210	C	T	18	36146247	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00110590671658374	0.036
18	33726211	A	C	18	36146248	y	y	splicing	ELP2(NM_001242875:exon12:c.1189-2A>C;NM_018255:exon11:c.994-2A>C;NM_001242877:exon10:c.916-2A>C;NM_001242879:exon8:c.784-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.994-2A>C;ENST00000351393:exon10:c.916-2A>C;ENST00000442325:exon12:c.1189-2A>C;ENST00000423854:exon8:c.784-2A>C;ENST00000539560:exon11:c.994-2A>C)	.	.	0.999993519952936	0.93
18	33726211	A	G	18	36146248	y	y	splicing	ELP2(NM_001242875:exon12:c.1189-2A>G;NM_018255:exon11:c.994-2A>G;NM_001242877:exon10:c.916-2A>G;NM_001242879:exon8:c.784-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.994-2A>G;ENST00000351393:exon10:c.916-2A>G;ENST00000442325:exon12:c.1189-2A>G;ENST00000423854:exon8:c.784-2A>G;ENST00000539560:exon11:c.994-2A>G)	.	.	0.999993519952936	0.93
18	33726211	A	T	18	36146248	y	y	splicing	ELP2(NM_001242875:exon12:c.1189-2A>T;NM_018255:exon11:c.994-2A>T;NM_001242877:exon10:c.916-2A>T;NM_001242879:exon8:c.784-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.994-2A>T;ENST00000351393:exon10:c.916-2A>T;ENST00000442325:exon12:c.1189-2A>T;ENST00000423854:exon8:c.784-2A>T;ENST00000539560:exon11:c.994-2A>T)	.	.	0.999993519952936	0.93
18	33726212	G	A	18	36146249	y	y	splicing	ELP2(NM_001242875:exon12:c.1189-1G>A;NM_018255:exon11:c.994-1G>A;NM_001242877:exon10:c.916-1G>A;NM_001242879:exon8:c.784-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.994-1G>A;ENST00000351393:exon10:c.916-1G>A;ENST00000442325:exon12:c.1189-1G>A;ENST00000423854:exon8:c.784-1G>A;ENST00000539560:exon11:c.994-1G>A)	.	.	0.999992446697775	0.938
18	33726212	G	C	18	36146249	y	y	splicing	ELP2(NM_001242875:exon12:c.1189-1G>C;NM_018255:exon11:c.994-1G>C;NM_001242877:exon10:c.916-1G>C;NM_001242879:exon8:c.784-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.994-1G>C;ENST00000351393:exon10:c.916-1G>C;ENST00000442325:exon12:c.1189-1G>C;ENST00000423854:exon8:c.784-1G>C;ENST00000539560:exon11:c.994-1G>C)	.	.	0.999992446697775	0.938
18	33726212	G	T	18	36146249	y	y	splicing	ELP2(NM_001242875:exon12:c.1189-1G>T;NM_018255:exon11:c.994-1G>T;NM_001242877:exon10:c.916-1G>T;NM_001242879:exon8:c.784-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.994-1G>T;ENST00000351393:exon10:c.916-1G>T;ENST00000442325:exon12:c.1189-1G>T;ENST00000423854:exon8:c.784-1G>T;ENST00000539560:exon11:c.994-1G>T)	.	.	0.999992446697775	0.938
18	33726213	G	A	18	36146250	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.G784A:p.V262I;ELP2:NM_001242875:exon12:c.G1189A:p.V397I;ELP2:NM_018255:exon11:c.G994A:p.V332I;ELP2:NM_001242877:exon10:c.G916A:p.V306I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.G916A:p.V306I;ENSG00000134759:ENST00000442325:exon12:c.G1189A:p.V397I;ENSG00000134759:ENST00000423854:exon8:c.G784A:p.V262I;ENSG00000134759:ENST00000358232:exon11:c.G994A:p.V332I;ENSG00000134759:ENST00000539560:exon11:c.G994A:p.V332I;	0.996441632711182	0.832
18	33726213	G	C	18	36146250	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.G784C:p.V262L;ELP2:NM_001242875:exon12:c.G1189C:p.V397L;ELP2:NM_018255:exon11:c.G994C:p.V332L;ELP2:NM_001242877:exon10:c.G916C:p.V306L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.G916C:p.V306L;ENSG00000134759:ENST00000442325:exon12:c.G1189C:p.V397L;ENSG00000134759:ENST00000423854:exon8:c.G784C:p.V262L;ENSG00000134759:ENST00000358232:exon11:c.G994C:p.V332L;ENSG00000134759:ENST00000539560:exon11:c.G994C:p.V332L;	0.999279718367487	0.916
18	33726213	G	T	18	36146250	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.G784T:p.V262F;ELP2:NM_001242875:exon12:c.G1189T:p.V397F;ELP2:NM_018255:exon11:c.G994T:p.V332F;ELP2:NM_001242877:exon10:c.G916T:p.V306F;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.G916T:p.V306F;ENSG00000134759:ENST00000442325:exon12:c.G1189T:p.V397F;ENSG00000134759:ENST00000423854:exon8:c.G784T:p.V262F;ENSG00000134759:ENST00000358232:exon11:c.G994T:p.V332F;ENSG00000134759:ENST00000539560:exon11:c.G994T:p.V332F;	0.998656840631041	0.942
18	33726214	T	A	18	36146251	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.T785A:p.V262D;ELP2:NM_001242875:exon12:c.T1190A:p.V397D;ELP2:NM_018255:exon11:c.T995A:p.V332D;ELP2:NM_001242877:exon10:c.T917A:p.V306D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.T917A:p.V306D;ENSG00000134759:ENST00000442325:exon12:c.T1190A:p.V397D;ENSG00000134759:ENST00000423854:exon8:c.T785A:p.V262D;ENSG00000134759:ENST00000358232:exon11:c.T995A:p.V332D;ENSG00000134759:ENST00000539560:exon11:c.T995A:p.V332D;	0.1781811259076	0.434
18	33726214	T	C	18	36146251	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.T785C:p.V262A;ELP2:NM_001242875:exon12:c.T1190C:p.V397A;ELP2:NM_018255:exon11:c.T995C:p.V332A;ELP2:NM_001242877:exon10:c.T917C:p.V306A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.T917C:p.V306A;ENSG00000134759:ENST00000442325:exon12:c.T1190C:p.V397A;ENSG00000134759:ENST00000423854:exon8:c.T785C:p.V262A;ENSG00000134759:ENST00000358232:exon11:c.T995C:p.V332A;ENSG00000134759:ENST00000539560:exon11:c.T995C:p.V332A;	0.175003893842428	0.494
18	33726214	T	G	18	36146251	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.T785G:p.V262G;ELP2:NM_001242875:exon12:c.T1190G:p.V397G;ELP2:NM_018255:exon11:c.T995G:p.V332G;ELP2:NM_001242877:exon10:c.T917G:p.V306G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.T917G:p.V306G;ENSG00000134759:ENST00000442325:exon12:c.T1190G:p.V397G;ENSG00000134759:ENST00000423854:exon8:c.T785G:p.V262G;ENSG00000134759:ENST00000358232:exon11:c.T995G:p.V332G;ENSG00000134759:ENST00000539560:exon11:c.T995G:p.V332G;	0.183938596259496	0.462
18	33726342	C	A	18	36146379	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.C913A:p.P305T;ELP2:NM_001242875:exon12:c.C1318A:p.P440T;ELP2:NM_018255:exon11:c.C1123A:p.P375T;ELP2:NM_001242877:exon10:c.C1045A:p.P349T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.C1045A:p.P349T;ENSG00000134759:ENST00000442325:exon12:c.C1318A:p.P440T;ENSG00000134759:ENST00000423854:exon8:c.C913A:p.P305T;ENSG00000134759:ENST00000358232:exon11:c.C1123A:p.P375T;ENSG00000134759:ENST00000539560:exon11:c.C1123A:p.P375T;	1.30789876987114E-4	0.058
18	33726342	C	G	18	36146379	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.C913G:p.P305A;ELP2:NM_001242875:exon12:c.C1318G:p.P440A;ELP2:NM_018255:exon11:c.C1123G:p.P375A;ELP2:NM_001242877:exon10:c.C1045G:p.P349A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.C1045G:p.P349A;ENSG00000134759:ENST00000442325:exon12:c.C1318G:p.P440A;ENSG00000134759:ENST00000423854:exon8:c.C913G:p.P305A;ENSG00000134759:ENST00000358232:exon11:c.C1123G:p.P375A;ENSG00000134759:ENST00000539560:exon11:c.C1123G:p.P375A;	0.00124468796775085	0.184
18	33726342	C	T	18	36146379	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.C913T:p.P305S;ELP2:NM_001242875:exon12:c.C1318T:p.P440S;ELP2:NM_018255:exon11:c.C1123T:p.P375S;ELP2:NM_001242877:exon10:c.C1045T:p.P349S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.C1045T:p.P349S;ENSG00000134759:ENST00000442325:exon12:c.C1318T:p.P440S;ENSG00000134759:ENST00000423854:exon8:c.C913T:p.P305S;ENSG00000134759:ENST00000358232:exon11:c.C1123T:p.P375S;ENSG00000134759:ENST00000539560:exon11:c.C1123T:p.P375S;	0.00311082307462379	0.114
18	33726343	C	A	18	36146380	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.C914A:p.P305Q;ELP2:NM_001242875:exon12:c.C1319A:p.P440Q;ELP2:NM_018255:exon11:c.C1124A:p.P375Q;ELP2:NM_001242877:exon10:c.C1046A:p.P349Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.C1046A:p.P349Q;ENSG00000134759:ENST00000442325:exon12:c.C1319A:p.P440Q;ENSG00000134759:ENST00000423854:exon8:c.C914A:p.P305Q;ENSG00000134759:ENST00000358232:exon11:c.C1124A:p.P375Q;ENSG00000134759:ENST00000539560:exon11:c.C1124A:p.P375Q;	0.00601269242627276	0.246
18	33726343	C	G	18	36146380	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.C914G:p.P305R;ELP2:NM_001242875:exon12:c.C1319G:p.P440R;ELP2:NM_018255:exon11:c.C1124G:p.P375R;ELP2:NM_001242877:exon10:c.C1046G:p.P349R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.C1046G:p.P349R;ENSG00000134759:ENST00000442325:exon12:c.C1319G:p.P440R;ENSG00000134759:ENST00000423854:exon8:c.C914G:p.P305R;ENSG00000134759:ENST00000358232:exon11:c.C1124G:p.P375R;ENSG00000134759:ENST00000539560:exon11:c.C1124G:p.P375R;	0.00669244730374161	0.174
18	33726343	C	T	18	36146380	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon8:c.C914T:p.P305L;ELP2:NM_001242875:exon12:c.C1319T:p.P440L;ELP2:NM_018255:exon11:c.C1124T:p.P375L;ELP2:NM_001242877:exon10:c.C1046T:p.P349L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.C1046T:p.P349L;ENSG00000134759:ENST00000442325:exon12:c.C1319T:p.P440L;ENSG00000134759:ENST00000423854:exon8:c.C914T:p.P305L;ENSG00000134759:ENST00000358232:exon11:c.C1124T:p.P375L;ENSG00000134759:ENST00000539560:exon11:c.C1124T:p.P375L;	0.00441022171285371	0.266
18	33726344	A	C	18	36146381	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon8:c.A915C:p.P305P;ELP2:NM_001242875:exon12:c.A1320C:p.P440P;ELP2:NM_018255:exon11:c.A1125C:p.P375P;ELP2:NM_001242877:exon10:c.A1047C:p.P349P;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.A1047C:p.P349P;ENSG00000134759:ENST00000442325:exon12:c.A1320C:p.P440P;ENSG00000134759:ENST00000423854:exon8:c.A915C:p.P305P;ENSG00000134759:ENST00000358232:exon11:c.A1125C:p.P375P;ENSG00000134759:ENST00000539560:exon11:c.A1125C:p.P375P;	1.39119491271077E-4	0.03
18	33726344	A	G	18	36146381	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon8:c.A915G:p.P305P;ELP2:NM_001242875:exon12:c.A1320G:p.P440P;ELP2:NM_018255:exon11:c.A1125G:p.P375P;ELP2:NM_001242877:exon10:c.A1047G:p.P349P;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.A1047G:p.P349P;ENSG00000134759:ENST00000442325:exon12:c.A1320G:p.P440P;ENSG00000134759:ENST00000423854:exon8:c.A915G:p.P305P;ENSG00000134759:ENST00000358232:exon11:c.A1125G:p.P375P;ENSG00000134759:ENST00000539560:exon11:c.A1125G:p.P375P;	5.11518683770002E-4	0.176
18	33726344	A	T	18	36146381	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon8:c.A915T:p.P305P;ELP2:NM_001242875:exon12:c.A1320T:p.P440P;ELP2:NM_018255:exon11:c.A1125T:p.P375P;ELP2:NM_001242877:exon10:c.A1047T:p.P349P;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000351393:exon10:c.A1047T:p.P349P;ENSG00000134759:ENST00000442325:exon12:c.A1320T:p.P440P;ENSG00000134759:ENST00000423854:exon8:c.A915T:p.P305P;ENSG00000134759:ENST00000358232:exon11:c.A1125T:p.P375P;ENSG00000134759:ENST00000539560:exon11:c.A1125T:p.P375P;	0.00250044217075199	0.04
18	33726345	G	A	18	36146382	y	y	splicing	ELP2(NM_001242875:exon12:c.1320+1G>A;NM_018255:exon11:c.1125+1G>A;NM_001242877:exon10:c.1047+1G>A;NM_001242879:exon8:c.915+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.1125+1G>A;ENST00000351393:exon10:c.1047+1G>A;ENST00000442325:exon12:c.1320+1G>A;ENST00000423854:exon8:c.915+1G>A;ENST00000539560:exon11:c.1125+1G>A)	.	.	0.999986472513537	0.924
18	33726345	G	C	18	36146382	y	y	splicing	ELP2(NM_001242875:exon12:c.1320+1G>C;NM_018255:exon11:c.1125+1G>C;NM_001242877:exon10:c.1047+1G>C;NM_001242879:exon8:c.915+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.1125+1G>C;ENST00000351393:exon10:c.1047+1G>C;ENST00000442325:exon12:c.1320+1G>C;ENST00000423854:exon8:c.915+1G>C;ENST00000539560:exon11:c.1125+1G>C)	.	.	0.999981143907746	0.918
18	33726345	G	T	18	36146382	y	y	splicing	ELP2(NM_001242875:exon12:c.1320+1G>T;NM_018255:exon11:c.1125+1G>T;NM_001242877:exon10:c.1047+1G>T;NM_001242879:exon8:c.915+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.1125+1G>T;ENST00000351393:exon10:c.1047+1G>T;ENST00000442325:exon12:c.1320+1G>T;ENST00000423854:exon8:c.915+1G>T;ENST00000539560:exon11:c.1125+1G>T)	.	.	0.999986472513537	0.918
18	33726346	T	A	18	36146383	y	y	splicing	ELP2(NM_001242875:exon12:c.1320+2T>A;NM_018255:exon11:c.1125+2T>A;NM_001242877:exon10:c.1047+2T>A;NM_001242879:exon8:c.915+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.1125+2T>A;ENST00000351393:exon10:c.1047+2T>A;ENST00000442325:exon12:c.1320+2T>A;ENST00000423854:exon8:c.915+2T>A;ENST00000539560:exon11:c.1125+2T>A)	.	.	0.999986472513537	0.928
18	33726346	T	C	18	36146383	y	y	splicing	ELP2(NM_001242875:exon12:c.1320+2T>C;NM_018255:exon11:c.1125+2T>C;NM_001242877:exon10:c.1047+2T>C;NM_001242879:exon8:c.915+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.1125+2T>C;ENST00000351393:exon10:c.1047+2T>C;ENST00000442325:exon12:c.1320+2T>C;ENST00000423854:exon8:c.915+2T>C;ENST00000539560:exon11:c.1125+2T>C)	.	.	0.999684487860455	0.834
18	33726346	T	G	18	36146383	y	y	splicing	ELP2(NM_001242875:exon12:c.1320+2T>G;NM_018255:exon11:c.1125+2T>G;NM_001242877:exon10:c.1047+2T>G;NM_001242879:exon8:c.915+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon11:c.1125+2T>G;ENST00000351393:exon10:c.1047+2T>G;ENST00000442325:exon12:c.1320+2T>G;ENST00000423854:exon8:c.915+2T>G;ENST00000539560:exon11:c.1125+2T>G)	.	.	0.99996509239462	0.926
18	33726347	A	C	18	36146384	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999698246433765	0.882
18	33726347	A	G	18	36146384	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.949644182032455	0.584
18	33726347	A	T	18	36146384	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999673384417753	0.85
18	33726348	A	C	18	36146385	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996510880632788	0.696
18	33726348	A	G	18	36146385	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997292793112206	0.844
18	33726348	A	T	18	36146385	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.985985395008802	0.754
18	33726349	G	A	18	36146386	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999983612254194	0.996
18	33726349	G	C	18	36146386	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999984514245269	0.99
18	33726349	G	T	18	36146386	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999975528417405	0.992
18	33726350	A	C	18	36146387	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.12140417069216E-4	0.052
18	33726350	A	G	18	36146387	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.43414648871438E-4	0.002
18	33726350	A	T	18	36146387	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.66955769190185E-5	0.108
18	33726351	A	C	18	36146388	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.44007093881591E-5	0.002
18	33726351	A	G	18	36146388	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.27823948432613E-5	0.002
18	33726351	A	T	18	36146388	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.90471498291852E-4	0.028
18	33726352	A	C	18	36146389	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.07292238495418E-4	0.004
18	33726352	A	G	18	36146389	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.86621998596164E-5	0.002
18	33726352	A	T	18	36146389	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.24793535708689E-4	0.002
18	33734801	C	A	18	36154838	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00103005378102132	0.03
18	33734801	C	G	18	36154838	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999490994001904	0.976
18	33734801	C	T	18	36154838	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.11574954701794E-5	0.006
18	33734802	T	A	18	36154839	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.621516820658732	0.446
18	33734802	T	C	18	36154839	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0665325629716417	0.258
18	33734802	T	G	18	36154839	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.310219135164011	0.412
18	33734803	T	A	18	36154840	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.690689506204775	0.6
18	33734803	T	C	18	36154840	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.05377166172476E-4	0.04
18	33734803	T	G	18	36154840	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.98491986842124	0.72
18	33734804	C	A	18	36154841	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00204551436174615	0.074
18	33734804	C	G	18	36154841	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.64937602573148E-4	0.072
18	33734804	C	T	18	36154841	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.32764103776405E-5	0.002
18	33734805	C	A	18	36154842	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.64703610377925E-4	0.048
18	33734805	C	G	18	36154842	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00432827850037384	0.082
18	33734805	C	T	18	36154842	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.61010857913896E-4	0.012
18	33734806	A	C	18	36154843	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.87804348396121E-5	0.004
18	33734806	A	G	18	36154843	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.38067689797264E-5	0.0
18	33734806	A	T	18	36154843	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.97769277305195E-5	0.0
18	33734807	T	A	18	36154844	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.873995007482792	0.616
18	33734807	T	C	18	36154844	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.47627828409365E-4	0.046
18	33734807	T	G	18	36154844	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999918578996784	0.984
18	33734808	T	A	18	36154845	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999917453112862	0.962
18	33734808	T	C	18	36154845	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0567943675326658	0.224
18	33734808	T	G	18	36154845	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.949640761591726	0.622
18	33734809	G	A	18	36154846	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00138725308610614	0.068
18	33734809	G	C	18	36154846	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.68116421327271E-4	0.034
18	33734809	G	T	18	36154846	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.82049777746779E-4	0.008
18	33734810	C	A	18	36154847	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998041030609004	0.934
18	33734810	C	G	18	36154847	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99991903788317	0.992
18	33734810	C	T	18	36154847	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0157905102179847	0.066
18	33734811	A	C	18	36154848	y	y	splicing	ELP2(NM_001242875:exon13:c.1321-2A>C;NM_001242876:exon11:c.1111-2A>C;NM_018255:exon12:c.1126-2A>C;NM_001242878:exon10:c.916-2A>C;NM_001242877:exon11:c.1048-2A>C;NM_001242879:exon9:c.916-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1126-2A>C;ENST00000351393:exon11:c.1048-2A>C;ENST00000442325:exon13:c.1321-2A>C;ENST00000423854:exon9:c.916-2A>C;ENST00000539560:exon12:c.1126-2A>C;ENST00000350494:exon11:c.1111-2A>C;ENST00000542824:exon10:c.916-2A>C)	.	.	0.999986741007567	0.946
18	33734811	A	G	18	36154848	y	y	splicing	ELP2(NM_001242875:exon13:c.1321-2A>G;NM_001242876:exon11:c.1111-2A>G;NM_018255:exon12:c.1126-2A>G;NM_001242878:exon10:c.916-2A>G;NM_001242877:exon11:c.1048-2A>G;NM_001242879:exon9:c.916-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1126-2A>G;ENST00000351393:exon11:c.1048-2A>G;ENST00000442325:exon13:c.1321-2A>G;ENST00000423854:exon9:c.916-2A>G;ENST00000539560:exon12:c.1126-2A>G;ENST00000350494:exon11:c.1111-2A>G;ENST00000542824:exon10:c.916-2A>G)	.	.	0.999986741007567	0.946
18	33734811	A	T	18	36154848	y	y	splicing	ELP2(NM_001242875:exon13:c.1321-2A>T;NM_001242876:exon11:c.1111-2A>T;NM_018255:exon12:c.1126-2A>T;NM_001242878:exon10:c.916-2A>T;NM_001242877:exon11:c.1048-2A>T;NM_001242879:exon9:c.916-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1126-2A>T;ENST00000351393:exon11:c.1048-2A>T;ENST00000442325:exon13:c.1321-2A>T;ENST00000423854:exon9:c.916-2A>T;ENST00000539560:exon12:c.1126-2A>T;ENST00000350494:exon11:c.1111-2A>T;ENST00000542824:exon10:c.916-2A>T)	.	.	0.999986741007567	0.946
18	33734812	G	A	18	36154849	y	y	splicing	ELP2(NM_001242875:exon13:c.1321-1G>A;NM_001242876:exon11:c.1111-1G>A;NM_018255:exon12:c.1126-1G>A;NM_001242878:exon10:c.916-1G>A;NM_001242877:exon11:c.1048-1G>A;NM_001242879:exon9:c.916-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1126-1G>A;ENST00000351393:exon11:c.1048-1G>A;ENST00000442325:exon13:c.1321-1G>A;ENST00000423854:exon9:c.916-1G>A;ENST00000539560:exon12:c.1126-1G>A;ENST00000350494:exon11:c.1111-1G>A;ENST00000542824:exon10:c.916-1G>A)	.	.	0.999989125585301	0.944
18	33734812	G	C	18	36154849	y	y	splicing	ELP2(NM_001242875:exon13:c.1321-1G>C;NM_001242876:exon11:c.1111-1G>C;NM_018255:exon12:c.1126-1G>C;NM_001242878:exon10:c.916-1G>C;NM_001242877:exon11:c.1048-1G>C;NM_001242879:exon9:c.916-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1126-1G>C;ENST00000351393:exon11:c.1048-1G>C;ENST00000442325:exon13:c.1321-1G>C;ENST00000423854:exon9:c.916-1G>C;ENST00000539560:exon12:c.1126-1G>C;ENST00000350494:exon11:c.1111-1G>C;ENST00000542824:exon10:c.916-1G>C)	.	.	0.999989125585301	0.944
18	33734812	G	T	18	36154849	y	y	splicing	ELP2(NM_001242875:exon13:c.1321-1G>T;NM_001242876:exon11:c.1111-1G>T;NM_018255:exon12:c.1126-1G>T;NM_001242878:exon10:c.916-1G>T;NM_001242877:exon11:c.1048-1G>T;NM_001242879:exon9:c.916-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1126-1G>T;ENST00000351393:exon11:c.1048-1G>T;ENST00000442325:exon13:c.1321-1G>T;ENST00000423854:exon9:c.916-1G>T;ENST00000539560:exon12:c.1126-1G>T;ENST00000350494:exon11:c.1111-1G>T;ENST00000542824:exon10:c.916-1G>T)	.	.	0.999989125585301	0.944
18	33734813	A	C	18	36154850	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon9:c.A916C:p.R306R;ELP2:NM_001242875:exon13:c.A1321C:p.R441R;ELP2:NM_001242878:exon10:c.A916C:p.R306R;ELP2:NM_018255:exon12:c.A1126C:p.R376R;ELP2:NM_001242876:exon11:c.A1111C:p.R371R;ELP2:NM_001242877:exon11:c.A1048C:p.R350R;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.A916C:p.R306R;ENSG00000134759:ENST00000351393:exon11:c.A1048C:p.R350R;ENSG00000134759:ENST00000442325:exon13:c.A1321C:p.R441R;ENSG00000134759:ENST00000350494:exon11:c.A1111C:p.R371R;ENSG00000134759:ENST00000423854:exon9:c.A916C:p.R306R;ENSG00000134759:ENST00000358232:exon12:c.A1126C:p.R376R;ENSG00000134759:ENST00000539560:exon12:c.A1126C:p.R376R;	0.103327570617479	0.208
18	33734813	A	G	18	36154850	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.A916G:p.R306G;ELP2:NM_001242875:exon13:c.A1321G:p.R441G;ELP2:NM_001242878:exon10:c.A916G:p.R306G;ELP2:NM_018255:exon12:c.A1126G:p.R376G;ELP2:NM_001242876:exon11:c.A1111G:p.R371G;ELP2:NM_001242877:exon11:c.A1048G:p.R350G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.A916G:p.R306G;ENSG00000134759:ENST00000351393:exon11:c.A1048G:p.R350G;ENSG00000134759:ENST00000442325:exon13:c.A1321G:p.R441G;ENSG00000134759:ENST00000350494:exon11:c.A1111G:p.R371G;ENSG00000134759:ENST00000423854:exon9:c.A916G:p.R306G;ENSG00000134759:ENST00000358232:exon12:c.A1126G:p.R376G;ENSG00000134759:ENST00000539560:exon12:c.A1126G:p.R376G;	2.72197921780802E-4	0.002
18	33734813	A	T	18	36154850	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon9:c.A916T:p.R306X;ELP2:NM_001242875:exon13:c.A1321T:p.R441X;ELP2:NM_001242878:exon10:c.A916T:p.R306X;ELP2:NM_018255:exon12:c.A1126T:p.R376X;ELP2:NM_001242876:exon11:c.A1111T:p.R371X;ELP2:NM_001242877:exon11:c.A1048T:p.R350X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon10:c.A916T:p.R306X;ENSG00000134759:ENST00000351393:exon11:c.A1048T:p.R350X;ENSG00000134759:ENST00000442325:exon13:c.A1321T:p.R441X;ENSG00000134759:ENST00000350494:exon11:c.A1111T:p.R371X;ENSG00000134759:ENST00000423854:exon9:c.A916T:p.R306X;ENSG00000134759:ENST00000358232:exon12:c.A1126T:p.R376X;ENSG00000134759:ENST00000539560:exon12:c.A1126T:p.R376X;	0.124110683400005	0.376
18	33734814	G	A	18	36154851	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.G917A:p.R306K;ELP2:NM_001242875:exon13:c.G1322A:p.R441K;ELP2:NM_001242878:exon10:c.G917A:p.R306K;ELP2:NM_018255:exon12:c.G1127A:p.R376K;ELP2:NM_001242876:exon11:c.G1112A:p.R371K;ELP2:NM_001242877:exon11:c.G1049A:p.R350K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.G917A:p.R306K;ENSG00000134759:ENST00000351393:exon11:c.G1049A:p.R350K;ENSG00000134759:ENST00000442325:exon13:c.G1322A:p.R441K;ENSG00000134759:ENST00000350494:exon11:c.G1112A:p.R371K;ENSG00000134759:ENST00000423854:exon9:c.G917A:p.R306K;ENSG00000134759:ENST00000358232:exon12:c.G1127A:p.R376K;ENSG00000134759:ENST00000539560:exon12:c.G1127A:p.R376K;	1.3977867775786E-4	0.006
18	33734814	G	C	18	36154851	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.G917C:p.R306T;ELP2:NM_001242875:exon13:c.G1322C:p.R441T;ELP2:NM_001242878:exon10:c.G917C:p.R306T;ELP2:NM_018255:exon12:c.G1127C:p.R376T;ELP2:NM_001242876:exon11:c.G1112C:p.R371T;ELP2:NM_001242877:exon11:c.G1049C:p.R350T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.G917C:p.R306T;ENSG00000134759:ENST00000351393:exon11:c.G1049C:p.R350T;ENSG00000134759:ENST00000442325:exon13:c.G1322C:p.R441T;ENSG00000134759:ENST00000350494:exon11:c.G1112C:p.R371T;ENSG00000134759:ENST00000423854:exon9:c.G917C:p.R306T;ENSG00000134759:ENST00000358232:exon12:c.G1127C:p.R376T;ENSG00000134759:ENST00000539560:exon12:c.G1127C:p.R376T;	3.86346157266705E-5	0.014
18	33734814	G	T	18	36154851	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.G917T:p.R306I;ELP2:NM_001242875:exon13:c.G1322T:p.R441I;ELP2:NM_001242878:exon10:c.G917T:p.R306I;ELP2:NM_018255:exon12:c.G1127T:p.R376I;ELP2:NM_001242876:exon11:c.G1112T:p.R371I;ELP2:NM_001242877:exon11:c.G1049T:p.R350I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.G917T:p.R306I;ENSG00000134759:ENST00000351393:exon11:c.G1049T:p.R350I;ENSG00000134759:ENST00000442325:exon13:c.G1322T:p.R441I;ENSG00000134759:ENST00000350494:exon11:c.G1112T:p.R371I;ENSG00000134759:ENST00000423854:exon9:c.G917T:p.R306I;ENSG00000134759:ENST00000358232:exon12:c.G1127T:p.R376I;ENSG00000134759:ENST00000539560:exon12:c.G1127T:p.R376I;	1.59165839563233E-4	0.108
18	33734960	C	A	18	36154997	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.C1063A:p.Q355K;ELP2:NM_001242875:exon13:c.C1468A:p.Q490K;ELP2:NM_001242878:exon10:c.C1063A:p.Q355K;ELP2:NM_018255:exon12:c.C1273A:p.Q425K;ELP2:NM_001242876:exon11:c.C1258A:p.Q420K;ELP2:NM_001242877:exon11:c.C1195A:p.Q399K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.C1063A:p.Q355K;ENSG00000134759:ENST00000351393:exon11:c.C1195A:p.Q399K;ENSG00000134759:ENST00000442325:exon13:c.C1468A:p.Q490K;ENSG00000134759:ENST00000350494:exon11:c.C1258A:p.Q420K;ENSG00000134759:ENST00000423854:exon9:c.C1063A:p.Q355K;ENSG00000134759:ENST00000358232:exon12:c.C1273A:p.Q425K;ENSG00000134759:ENST00000539560:exon12:c.C1273A:p.Q425K;	0.975230578775759	0.686
18	33734960	C	G	18	36154997	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.C1063G:p.Q355E;ELP2:NM_001242875:exon13:c.C1468G:p.Q490E;ELP2:NM_001242878:exon10:c.C1063G:p.Q355E;ELP2:NM_018255:exon12:c.C1273G:p.Q425E;ELP2:NM_001242876:exon11:c.C1258G:p.Q420E;ELP2:NM_001242877:exon11:c.C1195G:p.Q399E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.C1063G:p.Q355E;ENSG00000134759:ENST00000351393:exon11:c.C1195G:p.Q399E;ENSG00000134759:ENST00000442325:exon13:c.C1468G:p.Q490E;ENSG00000134759:ENST00000350494:exon11:c.C1258G:p.Q420E;ENSG00000134759:ENST00000423854:exon9:c.C1063G:p.Q355E;ENSG00000134759:ENST00000358232:exon12:c.C1273G:p.Q425E;ENSG00000134759:ENST00000539560:exon12:c.C1273G:p.Q425E;	0.785921372502517	0.48
18	33734960	C	T	18	36154997	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon9:c.C1063T:p.Q355X;ELP2:NM_001242875:exon13:c.C1468T:p.Q490X;ELP2:NM_001242878:exon10:c.C1063T:p.Q355X;ELP2:NM_018255:exon12:c.C1273T:p.Q425X;ELP2:NM_001242876:exon11:c.C1258T:p.Q420X;ELP2:NM_001242877:exon11:c.C1195T:p.Q399X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon10:c.C1063T:p.Q355X;ENSG00000134759:ENST00000351393:exon11:c.C1195T:p.Q399X;ENSG00000134759:ENST00000442325:exon13:c.C1468T:p.Q490X;ENSG00000134759:ENST00000350494:exon11:c.C1258T:p.Q420X;ENSG00000134759:ENST00000423854:exon9:c.C1063T:p.Q355X;ENSG00000134759:ENST00000358232:exon12:c.C1273T:p.Q425X;ENSG00000134759:ENST00000539560:exon12:c.C1273T:p.Q425X;	0.999794816590538	0.982
18	33734961	A	C	18	36154998	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.A1064C:p.Q355P;ELP2:NM_001242875:exon13:c.A1469C:p.Q490P;ELP2:NM_001242878:exon10:c.A1064C:p.Q355P;ELP2:NM_018255:exon12:c.A1274C:p.Q425P;ELP2:NM_001242876:exon11:c.A1259C:p.Q420P;ELP2:NM_001242877:exon11:c.A1196C:p.Q399P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.A1064C:p.Q355P;ENSG00000134759:ENST00000351393:exon11:c.A1196C:p.Q399P;ENSG00000134759:ENST00000442325:exon13:c.A1469C:p.Q490P;ENSG00000134759:ENST00000350494:exon11:c.A1259C:p.Q420P;ENSG00000134759:ENST00000423854:exon9:c.A1064C:p.Q355P;ENSG00000134759:ENST00000358232:exon12:c.A1274C:p.Q425P;ENSG00000134759:ENST00000539560:exon12:c.A1274C:p.Q425P;	0.921138655963304	0.676
18	33734961	A	G	18	36154998	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.A1064G:p.Q355R;ELP2:NM_001242875:exon13:c.A1469G:p.Q490R;ELP2:NM_001242878:exon10:c.A1064G:p.Q355R;ELP2:NM_018255:exon12:c.A1274G:p.Q425R;ELP2:NM_001242876:exon11:c.A1259G:p.Q420R;ELP2:NM_001242877:exon11:c.A1196G:p.Q399R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.A1064G:p.Q355R;ENSG00000134759:ENST00000351393:exon11:c.A1196G:p.Q399R;ENSG00000134759:ENST00000442325:exon13:c.A1469G:p.Q490R;ENSG00000134759:ENST00000350494:exon11:c.A1259G:p.Q420R;ENSG00000134759:ENST00000423854:exon9:c.A1064G:p.Q355R;ENSG00000134759:ENST00000358232:exon12:c.A1274G:p.Q425R;ENSG00000134759:ENST00000539560:exon12:c.A1274G:p.Q425R;	0.988031886199366	0.816
18	33734961	A	T	18	36154998	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.A1064T:p.Q355L;ELP2:NM_001242875:exon13:c.A1469T:p.Q490L;ELP2:NM_001242878:exon10:c.A1064T:p.Q355L;ELP2:NM_018255:exon12:c.A1274T:p.Q425L;ELP2:NM_001242876:exon11:c.A1259T:p.Q420L;ELP2:NM_001242877:exon11:c.A1196T:p.Q399L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.A1064T:p.Q355L;ENSG00000134759:ENST00000351393:exon11:c.A1196T:p.Q399L;ENSG00000134759:ENST00000442325:exon13:c.A1469T:p.Q490L;ENSG00000134759:ENST00000350494:exon11:c.A1259T:p.Q420L;ENSG00000134759:ENST00000423854:exon9:c.A1064T:p.Q355L;ENSG00000134759:ENST00000358232:exon12:c.A1274T:p.Q425L;ENSG00000134759:ENST00000539560:exon12:c.A1274T:p.Q425L;	0.999178126800519	0.94
18	33734962	G	A	18	36154999	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon9:c.G1065A:p.Q355Q;ELP2:NM_001242875:exon13:c.G1470A:p.Q490Q;ELP2:NM_001242878:exon10:c.G1065A:p.Q355Q;ELP2:NM_018255:exon12:c.G1275A:p.Q425Q;ELP2:NM_001242876:exon11:c.G1260A:p.Q420Q;ELP2:NM_001242877:exon11:c.G1197A:p.Q399Q;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.G1065A:p.Q355Q;ENSG00000134759:ENST00000351393:exon11:c.G1197A:p.Q399Q;ENSG00000134759:ENST00000442325:exon13:c.G1470A:p.Q490Q;ENSG00000134759:ENST00000350494:exon11:c.G1260A:p.Q420Q;ENSG00000134759:ENST00000423854:exon9:c.G1065A:p.Q355Q;ENSG00000134759:ENST00000358232:exon12:c.G1275A:p.Q425Q;ENSG00000134759:ENST00000539560:exon12:c.G1275A:p.Q425Q;	0.999976451503592	1.0
18	33734962	G	C	18	36154999	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.G1065C:p.Q355H;ELP2:NM_001242875:exon13:c.G1470C:p.Q490H;ELP2:NM_001242878:exon10:c.G1065C:p.Q355H;ELP2:NM_018255:exon12:c.G1275C:p.Q425H;ELP2:NM_001242876:exon11:c.G1260C:p.Q420H;ELP2:NM_001242877:exon11:c.G1197C:p.Q399H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.G1065C:p.Q355H;ENSG00000134759:ENST00000351393:exon11:c.G1197C:p.Q399H;ENSG00000134759:ENST00000442325:exon13:c.G1470C:p.Q490H;ENSG00000134759:ENST00000350494:exon11:c.G1260C:p.Q420H;ENSG00000134759:ENST00000423854:exon9:c.G1065C:p.Q355H;ENSG00000134759:ENST00000358232:exon12:c.G1275C:p.Q425H;ENSG00000134759:ENST00000539560:exon12:c.G1275C:p.Q425H;	0.999992170680885	0.996
18	33734962	G	T	18	36154999	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon9:c.G1065T:p.Q355H;ELP2:NM_001242875:exon13:c.G1470T:p.Q490H;ELP2:NM_001242878:exon10:c.G1065T:p.Q355H;ELP2:NM_018255:exon12:c.G1275T:p.Q425H;ELP2:NM_001242876:exon11:c.G1260T:p.Q420H;ELP2:NM_001242877:exon11:c.G1197T:p.Q399H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon10:c.G1065T:p.Q355H;ENSG00000134759:ENST00000351393:exon11:c.G1197T:p.Q399H;ENSG00000134759:ENST00000442325:exon13:c.G1470T:p.Q490H;ENSG00000134759:ENST00000350494:exon11:c.G1260T:p.Q420H;ENSG00000134759:ENST00000423854:exon9:c.G1065T:p.Q355H;ENSG00000134759:ENST00000358232:exon12:c.G1275T:p.Q425H;ENSG00000134759:ENST00000539560:exon12:c.G1275T:p.Q425H;	0.999948049278298	0.996
18	33734963	G	A	18	36155000	y	y	splicing	ELP2(NM_001242875:exon13:c.1470+1G>A;NM_001242876:exon11:c.1260+1G>A;NM_018255:exon12:c.1275+1G>A;NM_001242878:exon10:c.1065+1G>A;NM_001242877:exon11:c.1197+1G>A;NM_001242879:exon9:c.1065+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1275+1G>A;ENST00000351393:exon11:c.1197+1G>A;ENST00000442325:exon13:c.1470+1G>A;ENST00000423854:exon9:c.1065+1G>A;ENST00000539560:exon12:c.1275+1G>A;ENST00000350494:exon11:c.1260+1G>A;ENST00000542824:exon10:c.1065+1G>A)	.	.	0.999986675681007	0.932
18	33734963	G	C	18	36155000	y	y	splicing	ELP2(NM_001242875:exon13:c.1470+1G>C;NM_001242876:exon11:c.1260+1G>C;NM_018255:exon12:c.1275+1G>C;NM_001242878:exon10:c.1065+1G>C;NM_001242877:exon11:c.1197+1G>C;NM_001242879:exon9:c.1065+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1275+1G>C;ENST00000351393:exon11:c.1197+1G>C;ENST00000442325:exon13:c.1470+1G>C;ENST00000423854:exon9:c.1065+1G>C;ENST00000539560:exon12:c.1275+1G>C;ENST00000350494:exon11:c.1260+1G>C;ENST00000542824:exon10:c.1065+1G>C)	.	.	0.999986675681007	0.922
18	33734963	G	T	18	36155000	y	y	splicing	ELP2(NM_001242875:exon13:c.1470+1G>T;NM_001242876:exon11:c.1260+1G>T;NM_018255:exon12:c.1275+1G>T;NM_001242878:exon10:c.1065+1G>T;NM_001242877:exon11:c.1197+1G>T;NM_001242879:exon9:c.1065+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1275+1G>T;ENST00000351393:exon11:c.1197+1G>T;ENST00000442325:exon13:c.1470+1G>T;ENST00000423854:exon9:c.1065+1G>T;ENST00000539560:exon12:c.1275+1G>T;ENST00000350494:exon11:c.1260+1G>T;ENST00000542824:exon10:c.1065+1G>T)	.	.	0.999986675681007	0.932
18	33734964	T	A	18	36155001	y	y	splicing	ELP2(NM_001242875:exon13:c.1470+2T>A;NM_001242876:exon11:c.1260+2T>A;NM_018255:exon12:c.1275+2T>A;NM_001242878:exon10:c.1065+2T>A;NM_001242877:exon11:c.1197+2T>A;NM_001242879:exon9:c.1065+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1275+2T>A;ENST00000351393:exon11:c.1197+2T>A;ENST00000442325:exon13:c.1470+2T>A;ENST00000423854:exon9:c.1065+2T>A;ENST00000539560:exon12:c.1275+2T>A;ENST00000350494:exon11:c.1260+2T>A;ENST00000542824:exon10:c.1065+2T>A)	.	.	0.999988247793601	0.926
18	33734964	T	C	18	36155001	y	y	splicing	ELP2(NM_001242875:exon13:c.1470+2T>C;NM_001242876:exon11:c.1260+2T>C;NM_018255:exon12:c.1275+2T>C;NM_001242878:exon10:c.1065+2T>C;NM_001242877:exon11:c.1197+2T>C;NM_001242879:exon9:c.1065+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1275+2T>C;ENST00000351393:exon11:c.1197+2T>C;ENST00000442325:exon13:c.1470+2T>C;ENST00000423854:exon9:c.1065+2T>C;ENST00000539560:exon12:c.1275+2T>C;ENST00000350494:exon11:c.1260+2T>C;ENST00000542824:exon10:c.1065+2T>C)	.	.	0.99511039872326	0.638
18	33734964	T	G	18	36155001	y	y	splicing	ELP2(NM_001242875:exon13:c.1470+2T>G;NM_001242876:exon11:c.1260+2T>G;NM_018255:exon12:c.1275+2T>G;NM_001242878:exon10:c.1065+2T>G;NM_001242877:exon11:c.1197+2T>G;NM_001242879:exon9:c.1065+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon12:c.1275+2T>G;ENST00000351393:exon11:c.1197+2T>G;ENST00000442325:exon13:c.1470+2T>G;ENST00000423854:exon9:c.1065+2T>G;ENST00000539560:exon12:c.1275+2T>G;ENST00000350494:exon11:c.1260+2T>G;ENST00000542824:exon10:c.1065+2T>G)	.	.	0.999988247793601	0.926
18	33734965	A	C	18	36155002	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998190293680135	0.88
18	33734965	A	G	18	36155002	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.804414392221651	0.714
18	33734965	A	T	18	36155002	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999042737368004	0.808
18	33734966	A	C	18	36155003	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.890257245313366	0.534
18	33734966	A	G	18	36155003	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.943897209774925	0.626
18	33734966	A	T	18	36155003	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.980775907701304	0.77
18	33734967	A	C	18	36155004	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.39853056664352E-4	0.034
18	33734967	A	G	18	36155004	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.46288893649311E-4	0.018
18	33734967	A	T	18	36155004	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.92064521913391E-5	0.03
18	33734968	A	C	18	36155005	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00467181773347239	0.084
18	33734968	A	G	18	36155005	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00228494769538257	0.01
18	33734968	A	T	18	36155005	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00112816092949522	0.028
18	33734969	T	A	18	36155006	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.14524880281804E-4	0.0
18	33734969	T	C	18	36155006	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.46686928632532E-4	0.0
18	33734969	T	G	18	36155006	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.79865203918993E-4	0.0
18	33734970	G	A	18	36155007	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.82392675285952E-5	0.012
18	33734970	G	C	18	36155007	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.55181911050166E-4	0.054
18	33734970	G	T	18	36155007	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.35277504482604E-4	0.006
18	33736417	C	A	18	36156454	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998266580896009	0.972
18	33736417	C	G	18	36156454	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00103038326017317	0.072
18	33736417	C	T	18	36156454	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.35883985641676E-5	0.04
18	33736418	G	A	18	36156455	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.07903024845006E-5	0.008
18	33736418	G	C	18	36156455	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.01580427706557E-5	0.008
18	33736418	G	T	18	36156455	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.42040651215671E-5	0.0
18	33736419	T	A	18	36156456	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.245607792937296	0.5
18	33736419	T	C	18	36156456	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.4409590610027E-4	0.004
18	33736419	T	G	18	36156456	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.27418076454032	0.478
18	33736420	T	A	18	36156457	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0134100994011426	0.25
18	33736420	T	C	18	36156457	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.54063107301978E-4	0.016
18	33736420	T	G	18	36156457	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00773179333079567	0.29
18	33736421	T	A	18	36156458	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.122556478900624	0.37
18	33736421	T	C	18	36156458	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00165407396968178	0.09
18	33736421	T	G	18	36156458	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0283642767766895	0.314
18	33736422	T	A	18	36156459	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.115076395650888	0.362
18	33736422	T	C	18	36156459	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.59255906709829E-4	0.042
18	33736422	T	G	18	36156459	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0876543196402135	0.258
18	33736423	A	C	18	36156460	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.97731776693249E-4	0.028
18	33736423	A	G	18	36156460	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.6036004784859E-4	0.01
18	33736423	A	T	18	36156460	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.80713675533745E-5	0.006
18	33736424	C	A	18	36156461	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.09820103396505E-4	0.06
18	33736424	C	G	18	36156461	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999009440391495	0.966
18	33736424	C	T	18	36156461	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.09620824457462E-4	0.008
18	33736425	C	A	18	36156462	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.79230003951499E-5	0.012
18	33736425	C	G	18	36156462	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.37708350905071E-4	0.012
18	33736425	C	T	18	36156462	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.35625810282639E-4	0.014
18	33736426	C	A	18	36156463	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.571644147491866	0.43
18	33736426	C	G	18	36156463	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99934185947064	0.888
18	33736426	C	T	18	36156463	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.00746602898731E-4	0.03
18	33736427	A	C	18	36156464	y	y	splicing	ELP2(NM_001242875:exon14:c.1471-2A>C;NM_001242876:exon12:c.1261-2A>C;NM_018255:exon13:c.1276-2A>C;NM_001242878:exon11:c.1066-2A>C;NM_001242877:exon12:c.1198-2A>C;NM_001242879:exon10:c.1066-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1276-2A>C;ENST00000351393:exon12:c.1198-2A>C;ENST00000442325:exon14:c.1471-2A>C;ENST00000423854:exon10:c.1066-2A>C;ENST00000539560:exon13:c.1276-2A>C;ENST00000350494:exon12:c.1261-2A>C;ENST00000542824:exon11:c.1066-2A>C)	.	.	0.999988247793601	0.944
18	33736427	A	G	18	36156464	y	y	splicing	ELP2(NM_001242875:exon14:c.1471-2A>G;NM_001242876:exon12:c.1261-2A>G;NM_018255:exon13:c.1276-2A>G;NM_001242878:exon11:c.1066-2A>G;NM_001242877:exon12:c.1198-2A>G;NM_001242879:exon10:c.1066-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1276-2A>G;ENST00000351393:exon12:c.1198-2A>G;ENST00000442325:exon14:c.1471-2A>G;ENST00000423854:exon10:c.1066-2A>G;ENST00000539560:exon13:c.1276-2A>G;ENST00000350494:exon12:c.1261-2A>G;ENST00000542824:exon11:c.1066-2A>G)	.	.	0.999988247793601	0.944
18	33736427	A	T	18	36156464	y	y	splicing	ELP2(NM_001242875:exon14:c.1471-2A>T;NM_001242876:exon12:c.1261-2A>T;NM_018255:exon13:c.1276-2A>T;NM_001242878:exon11:c.1066-2A>T;NM_001242877:exon12:c.1198-2A>T;NM_001242879:exon10:c.1066-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1276-2A>T;ENST00000351393:exon12:c.1198-2A>T;ENST00000442325:exon14:c.1471-2A>T;ENST00000423854:exon10:c.1066-2A>T;ENST00000539560:exon13:c.1276-2A>T;ENST00000350494:exon12:c.1261-2A>T;ENST00000542824:exon11:c.1066-2A>T)	.	.	0.999988247793601	0.944
18	33736428	G	A	18	36156465	y	y	splicing	ELP2(NM_001242875:exon14:c.1471-1G>A;NM_001242876:exon12:c.1261-1G>A;NM_018255:exon13:c.1276-1G>A;NM_001242878:exon11:c.1066-1G>A;NM_001242877:exon12:c.1198-1G>A;NM_001242879:exon10:c.1066-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1276-1G>A;ENST00000351393:exon12:c.1198-1G>A;ENST00000442325:exon14:c.1471-1G>A;ENST00000423854:exon10:c.1066-1G>A;ENST00000539560:exon13:c.1276-1G>A;ENST00000350494:exon12:c.1261-1G>A;ENST00000542824:exon11:c.1066-1G>A)	.	.	0.999986675681007	0.942
18	33736428	G	C	18	36156465	y	y	splicing	ELP2(NM_001242875:exon14:c.1471-1G>C;NM_001242876:exon12:c.1261-1G>C;NM_018255:exon13:c.1276-1G>C;NM_001242878:exon11:c.1066-1G>C;NM_001242877:exon12:c.1198-1G>C;NM_001242879:exon10:c.1066-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1276-1G>C;ENST00000351393:exon12:c.1198-1G>C;ENST00000442325:exon14:c.1471-1G>C;ENST00000423854:exon10:c.1066-1G>C;ENST00000539560:exon13:c.1276-1G>C;ENST00000350494:exon12:c.1261-1G>C;ENST00000542824:exon11:c.1066-1G>C)	.	.	0.999986675681007	0.942
18	33736428	G	T	18	36156465	y	y	splicing	ELP2(NM_001242875:exon14:c.1471-1G>T;NM_001242876:exon12:c.1261-1G>T;NM_018255:exon13:c.1276-1G>T;NM_001242878:exon11:c.1066-1G>T;NM_001242877:exon12:c.1198-1G>T;NM_001242879:exon10:c.1066-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1276-1G>T;ENST00000351393:exon12:c.1198-1G>T;ENST00000442325:exon14:c.1471-1G>T;ENST00000423854:exon10:c.1066-1G>T;ENST00000539560:exon13:c.1276-1G>T;ENST00000350494:exon12:c.1261-1G>T;ENST00000542824:exon11:c.1066-1G>T)	.	.	0.999986675681007	0.942
18	33736429	G	A	18	36156466	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.G1066A:p.V356M;ELP2:NM_001242875:exon14:c.G1471A:p.V491M;ELP2:NM_001242878:exon11:c.G1066A:p.V356M;ELP2:NM_018255:exon13:c.G1276A:p.V426M;ELP2:NM_001242876:exon12:c.G1261A:p.V421M;ELP2:NM_001242877:exon12:c.G1198A:p.V400M;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.G1066A:p.V356M;ENSG00000134759:ENST00000351393:exon12:c.G1198A:p.V400M;ENSG00000134759:ENST00000442325:exon14:c.G1471A:p.V491M;ENSG00000134759:ENST00000350494:exon12:c.G1261A:p.V421M;ENSG00000134759:ENST00000423854:exon10:c.G1066A:p.V356M;ENSG00000134759:ENST00000358232:exon13:c.G1276A:p.V426M;ENSG00000134759:ENST00000539560:exon13:c.G1276A:p.V426M;	0.997214615991927	0.784
18	33736429	G	C	18	36156466	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.G1066C:p.V356L;ELP2:NM_001242875:exon14:c.G1471C:p.V491L;ELP2:NM_001242878:exon11:c.G1066C:p.V356L;ELP2:NM_018255:exon13:c.G1276C:p.V426L;ELP2:NM_001242876:exon12:c.G1261C:p.V421L;ELP2:NM_001242877:exon12:c.G1198C:p.V400L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.G1066C:p.V356L;ENSG00000134759:ENST00000351393:exon12:c.G1198C:p.V400L;ENSG00000134759:ENST00000442325:exon14:c.G1471C:p.V491L;ENSG00000134759:ENST00000350494:exon12:c.G1261C:p.V421L;ENSG00000134759:ENST00000423854:exon10:c.G1066C:p.V356L;ENSG00000134759:ENST00000358232:exon13:c.G1276C:p.V426L;ENSG00000134759:ENST00000539560:exon13:c.G1276C:p.V426L;	0.999100081154024	0.952
18	33736429	G	T	18	36156466	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.G1066T:p.V356L;ELP2:NM_001242875:exon14:c.G1471T:p.V491L;ELP2:NM_001242878:exon11:c.G1066T:p.V356L;ELP2:NM_018255:exon13:c.G1276T:p.V426L;ELP2:NM_001242876:exon12:c.G1261T:p.V421L;ELP2:NM_001242877:exon12:c.G1198T:p.V400L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.G1066T:p.V356L;ENSG00000134759:ENST00000351393:exon12:c.G1198T:p.V400L;ENSG00000134759:ENST00000442325:exon14:c.G1471T:p.V491L;ENSG00000134759:ENST00000350494:exon12:c.G1261T:p.V421L;ENSG00000134759:ENST00000423854:exon10:c.G1066T:p.V356L;ENSG00000134759:ENST00000358232:exon13:c.G1276T:p.V426L;ENSG00000134759:ENST00000539560:exon13:c.G1276T:p.V426L;	0.999359575745085	0.996
18	33736430	T	A	18	36156467	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.T1067A:p.V356E;ELP2:NM_001242875:exon14:c.T1472A:p.V491E;ELP2:NM_001242878:exon11:c.T1067A:p.V356E;ELP2:NM_018255:exon13:c.T1277A:p.V426E;ELP2:NM_001242876:exon12:c.T1262A:p.V421E;ELP2:NM_001242877:exon12:c.T1199A:p.V400E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.T1067A:p.V356E;ENSG00000134759:ENST00000351393:exon12:c.T1199A:p.V400E;ENSG00000134759:ENST00000442325:exon14:c.T1472A:p.V491E;ENSG00000134759:ENST00000350494:exon12:c.T1262A:p.V421E;ENSG00000134759:ENST00000423854:exon10:c.T1067A:p.V356E;ENSG00000134759:ENST00000358232:exon13:c.T1277A:p.V426E;ENSG00000134759:ENST00000539560:exon13:c.T1277A:p.V426E;	0.615978762798869	0.318
18	33736430	T	C	18	36156467	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.T1067C:p.V356A;ELP2:NM_001242875:exon14:c.T1472C:p.V491A;ELP2:NM_001242878:exon11:c.T1067C:p.V356A;ELP2:NM_018255:exon13:c.T1277C:p.V426A;ELP2:NM_001242876:exon12:c.T1262C:p.V421A;ELP2:NM_001242877:exon12:c.T1199C:p.V400A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.T1067C:p.V356A;ENSG00000134759:ENST00000351393:exon12:c.T1199C:p.V400A;ENSG00000134759:ENST00000442325:exon14:c.T1472C:p.V491A;ENSG00000134759:ENST00000350494:exon12:c.T1262C:p.V421A;ENSG00000134759:ENST00000423854:exon10:c.T1067C:p.V356A;ENSG00000134759:ENST00000358232:exon13:c.T1277C:p.V426A;ENSG00000134759:ENST00000539560:exon13:c.T1277C:p.V426A;	0.0453955867558614	0.196
18	33736430	T	G	18	36156467	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.T1067G:p.V356G;ELP2:NM_001242875:exon14:c.T1472G:p.V491G;ELP2:NM_001242878:exon11:c.T1067G:p.V356G;ELP2:NM_018255:exon13:c.T1277G:p.V426G;ELP2:NM_001242876:exon12:c.T1262G:p.V421G;ELP2:NM_001242877:exon12:c.T1199G:p.V400G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.T1067G:p.V356G;ENSG00000134759:ENST00000351393:exon12:c.T1199G:p.V400G;ENSG00000134759:ENST00000442325:exon14:c.T1472G:p.V491G;ENSG00000134759:ENST00000350494:exon12:c.T1262G:p.V421G;ENSG00000134759:ENST00000423854:exon10:c.T1067G:p.V356G;ENSG00000134759:ENST00000358232:exon13:c.T1277G:p.V426G;ENSG00000134759:ENST00000539560:exon13:c.T1277G:p.V426G;	0.106285558437434	0.224
18	33736615	A	C	18	36156652	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.A1252C:p.N418H;ELP2:NM_001242875:exon14:c.A1657C:p.N553H;ELP2:NM_001242878:exon11:c.A1252C:p.N418H;ELP2:NM_018255:exon13:c.A1462C:p.N488H;ELP2:NM_001242876:exon12:c.A1447C:p.N483H;ELP2:NM_001242877:exon12:c.A1384C:p.N462H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.A1252C:p.N418H;ENSG00000134759:ENST00000351393:exon12:c.A1384C:p.N462H;ENSG00000134759:ENST00000442325:exon14:c.A1657C:p.N553H;ENSG00000134759:ENST00000350494:exon12:c.A1447C:p.N483H;ENSG00000134759:ENST00000423854:exon10:c.A1252C:p.N418H;ENSG00000134759:ENST00000358232:exon13:c.A1462C:p.N488H;ENSG00000134759:ENST00000539560:exon13:c.A1462C:p.N488H;	7.76634266833237E-5	0.008
18	33736615	A	G	18	36156652	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.A1252G:p.N418D;ELP2:NM_001242875:exon14:c.A1657G:p.N553D;ELP2:NM_001242878:exon11:c.A1252G:p.N418D;ELP2:NM_018255:exon13:c.A1462G:p.N488D;ELP2:NM_001242876:exon12:c.A1447G:p.N483D;ELP2:NM_001242877:exon12:c.A1384G:p.N462D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.A1252G:p.N418D;ENSG00000134759:ENST00000351393:exon12:c.A1384G:p.N462D;ENSG00000134759:ENST00000442325:exon14:c.A1657G:p.N553D;ENSG00000134759:ENST00000350494:exon12:c.A1447G:p.N483D;ENSG00000134759:ENST00000423854:exon10:c.A1252G:p.N418D;ENSG00000134759:ENST00000358232:exon13:c.A1462G:p.N488D;ENSG00000134759:ENST00000539560:exon13:c.A1462G:p.N488D;	4.90772255437827E-5	0.002
18	33736615	A	T	18	36156652	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.A1252T:p.N418Y;ELP2:NM_001242875:exon14:c.A1657T:p.N553Y;ELP2:NM_001242878:exon11:c.A1252T:p.N418Y;ELP2:NM_018255:exon13:c.A1462T:p.N488Y;ELP2:NM_001242876:exon12:c.A1447T:p.N483Y;ELP2:NM_001242877:exon12:c.A1384T:p.N462Y;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.A1252T:p.N418Y;ENSG00000134759:ENST00000351393:exon12:c.A1384T:p.N462Y;ENSG00000134759:ENST00000442325:exon14:c.A1657T:p.N553Y;ENSG00000134759:ENST00000350494:exon12:c.A1447T:p.N483Y;ENSG00000134759:ENST00000423854:exon10:c.A1252T:p.N418Y;ENSG00000134759:ENST00000358232:exon13:c.A1462T:p.N488Y;ENSG00000134759:ENST00000539560:exon13:c.A1462T:p.N488Y;	0.0298878570683122	0.486
18	33736616	A	C	18	36156653	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.A1253C:p.N418T;ELP2:NM_001242875:exon14:c.A1658C:p.N553T;ELP2:NM_001242878:exon11:c.A1253C:p.N418T;ELP2:NM_018255:exon13:c.A1463C:p.N488T;ELP2:NM_001242876:exon12:c.A1448C:p.N483T;ELP2:NM_001242877:exon12:c.A1385C:p.N462T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.A1253C:p.N418T;ENSG00000134759:ENST00000351393:exon12:c.A1385C:p.N462T;ENSG00000134759:ENST00000442325:exon14:c.A1658C:p.N553T;ENSG00000134759:ENST00000350494:exon12:c.A1448C:p.N483T;ENSG00000134759:ENST00000423854:exon10:c.A1253C:p.N418T;ENSG00000134759:ENST00000358232:exon13:c.A1463C:p.N488T;ENSG00000134759:ENST00000539560:exon13:c.A1463C:p.N488T;	0.243122481063482	0.508
18	33736616	A	G	18	36156653	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.A1253G:p.N418S;ELP2:NM_001242875:exon14:c.A1658G:p.N553S;ELP2:NM_001242878:exon11:c.A1253G:p.N418S;ELP2:NM_018255:exon13:c.A1463G:p.N488S;ELP2:NM_001242876:exon12:c.A1448G:p.N483S;ELP2:NM_001242877:exon12:c.A1385G:p.N462S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.A1253G:p.N418S;ENSG00000134759:ENST00000351393:exon12:c.A1385G:p.N462S;ENSG00000134759:ENST00000442325:exon14:c.A1658G:p.N553S;ENSG00000134759:ENST00000350494:exon12:c.A1448G:p.N483S;ENSG00000134759:ENST00000423854:exon10:c.A1253G:p.N418S;ENSG00000134759:ENST00000358232:exon13:c.A1463G:p.N488S;ENSG00000134759:ENST00000539560:exon13:c.A1463G:p.N488S;	0.478707043458739	0.39
18	33736616	A	T	18	36156653	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.A1253T:p.N418I;ELP2:NM_001242875:exon14:c.A1658T:p.N553I;ELP2:NM_001242878:exon11:c.A1253T:p.N418I;ELP2:NM_018255:exon13:c.A1463T:p.N488I;ELP2:NM_001242876:exon12:c.A1448T:p.N483I;ELP2:NM_001242877:exon12:c.A1385T:p.N462I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.A1253T:p.N418I;ENSG00000134759:ENST00000351393:exon12:c.A1385T:p.N462I;ENSG00000134759:ENST00000442325:exon14:c.A1658T:p.N553I;ENSG00000134759:ENST00000350494:exon12:c.A1448T:p.N483I;ENSG00000134759:ENST00000423854:exon10:c.A1253T:p.N418I;ENSG00000134759:ENST00000358232:exon13:c.A1463T:p.N488I;ENSG00000134759:ENST00000539560:exon13:c.A1463T:p.N488I;	0.988922442919592	0.888
18	33736617	T	A	18	36156654	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.T1254A:p.N418K;ELP2:NM_001242875:exon14:c.T1659A:p.N553K;ELP2:NM_001242878:exon11:c.T1254A:p.N418K;ELP2:NM_018255:exon13:c.T1464A:p.N488K;ELP2:NM_001242876:exon12:c.T1449A:p.N483K;ELP2:NM_001242877:exon12:c.T1386A:p.N462K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.T1254A:p.N418K;ENSG00000134759:ENST00000351393:exon12:c.T1386A:p.N462K;ENSG00000134759:ENST00000442325:exon14:c.T1659A:p.N553K;ENSG00000134759:ENST00000350494:exon12:c.T1449A:p.N483K;ENSG00000134759:ENST00000423854:exon10:c.T1254A:p.N418K;ENSG00000134759:ENST00000358232:exon13:c.T1464A:p.N488K;ENSG00000134759:ENST00000539560:exon13:c.T1464A:p.N488K;	1.75098936479119E-5	0.01
18	33736617	T	C	18	36156654	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon10:c.T1254C:p.N418N;ELP2:NM_001242875:exon14:c.T1659C:p.N553N;ELP2:NM_001242878:exon11:c.T1254C:p.N418N;ELP2:NM_018255:exon13:c.T1464C:p.N488N;ELP2:NM_001242876:exon12:c.T1449C:p.N483N;ELP2:NM_001242877:exon12:c.T1386C:p.N462N;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.T1254C:p.N418N;ENSG00000134759:ENST00000351393:exon12:c.T1386C:p.N462N;ENSG00000134759:ENST00000442325:exon14:c.T1659C:p.N553N;ENSG00000134759:ENST00000350494:exon12:c.T1449C:p.N483N;ENSG00000134759:ENST00000423854:exon10:c.T1254C:p.N418N;ENSG00000134759:ENST00000358232:exon13:c.T1464C:p.N488N;ENSG00000134759:ENST00000539560:exon13:c.T1464C:p.N488N;	0.00109340516477817	0.236
18	33736617	T	G	18	36156654	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon10:c.T1254G:p.N418K;ELP2:NM_001242875:exon14:c.T1659G:p.N553K;ELP2:NM_001242878:exon11:c.T1254G:p.N418K;ELP2:NM_018255:exon13:c.T1464G:p.N488K;ELP2:NM_001242876:exon12:c.T1449G:p.N483K;ELP2:NM_001242877:exon12:c.T1386G:p.N462K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon11:c.T1254G:p.N418K;ENSG00000134759:ENST00000351393:exon12:c.T1386G:p.N462K;ENSG00000134759:ENST00000442325:exon14:c.T1659G:p.N553K;ENSG00000134759:ENST00000350494:exon12:c.T1449G:p.N483K;ENSG00000134759:ENST00000423854:exon10:c.T1254G:p.N418K;ENSG00000134759:ENST00000358232:exon13:c.T1464G:p.N488K;ENSG00000134759:ENST00000539560:exon13:c.T1464G:p.N488K;	4.49385080085283E-5	0.084
18	33736618	G	A	18	36156655	y	y	splicing	ELP2(NM_001242875:exon14:c.1659+1G>A;NM_001242876:exon12:c.1449+1G>A;NM_018255:exon13:c.1464+1G>A;NM_001242878:exon11:c.1254+1G>A;NM_001242877:exon12:c.1386+1G>A;NM_001242879:exon10:c.1254+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1464+1G>A;ENST00000351393:exon12:c.1386+1G>A;ENST00000442325:exon14:c.1659+1G>A;ENST00000423854:exon10:c.1254+1G>A;ENST00000539560:exon13:c.1464+1G>A;ENST00000350494:exon12:c.1449+1G>A;ENST00000542824:exon11:c.1254+1G>A)	.	.	0.999986675681007	0.93
18	33736618	G	C	18	36156655	y	y	splicing	ELP2(NM_001242875:exon14:c.1659+1G>C;NM_001242876:exon12:c.1449+1G>C;NM_018255:exon13:c.1464+1G>C;NM_001242878:exon11:c.1254+1G>C;NM_001242877:exon12:c.1386+1G>C;NM_001242879:exon10:c.1254+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1464+1G>C;ENST00000351393:exon12:c.1386+1G>C;ENST00000442325:exon14:c.1659+1G>C;ENST00000423854:exon10:c.1254+1G>C;ENST00000539560:exon13:c.1464+1G>C;ENST00000350494:exon12:c.1449+1G>C;ENST00000542824:exon11:c.1254+1G>C)	.	.	0.999986675681007	0.93
18	33736618	G	T	18	36156655	y	y	splicing	ELP2(NM_001242875:exon14:c.1659+1G>T;NM_001242876:exon12:c.1449+1G>T;NM_018255:exon13:c.1464+1G>T;NM_001242878:exon11:c.1254+1G>T;NM_001242877:exon12:c.1386+1G>T;NM_001242879:exon10:c.1254+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1464+1G>T;ENST00000351393:exon12:c.1386+1G>T;ENST00000442325:exon14:c.1659+1G>T;ENST00000423854:exon10:c.1254+1G>T;ENST00000539560:exon13:c.1464+1G>T;ENST00000350494:exon12:c.1449+1G>T;ENST00000542824:exon11:c.1254+1G>T)	.	.	0.999986675681007	0.93
18	33736619	T	A	18	36156656	y	y	splicing	ELP2(NM_001242875:exon14:c.1659+2T>A;NM_001242876:exon12:c.1449+2T>A;NM_018255:exon13:c.1464+2T>A;NM_001242878:exon11:c.1254+2T>A;NM_001242877:exon12:c.1386+2T>A;NM_001242879:exon10:c.1254+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1464+2T>A;ENST00000351393:exon12:c.1386+2T>A;ENST00000442325:exon14:c.1659+2T>A;ENST00000423854:exon10:c.1254+2T>A;ENST00000539560:exon13:c.1464+2T>A;ENST00000350494:exon12:c.1449+2T>A;ENST00000542824:exon11:c.1254+2T>A)	.	.	0.999988247793601	0.928
18	33736619	T	C	18	36156656	y	y	splicing	ELP2(NM_001242875:exon14:c.1659+2T>C;NM_001242876:exon12:c.1449+2T>C;NM_018255:exon13:c.1464+2T>C;NM_001242878:exon11:c.1254+2T>C;NM_001242877:exon12:c.1386+2T>C;NM_001242879:exon10:c.1254+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1464+2T>C;ENST00000351393:exon12:c.1386+2T>C;ENST00000442325:exon14:c.1659+2T>C;ENST00000423854:exon10:c.1254+2T>C;ENST00000539560:exon13:c.1464+2T>C;ENST00000350494:exon12:c.1449+2T>C;ENST00000542824:exon11:c.1254+2T>C)	.	.	0.999943260809542	0.862
18	33736619	T	G	18	36156656	y	y	splicing	ELP2(NM_001242875:exon14:c.1659+2T>G;NM_001242876:exon12:c.1449+2T>G;NM_018255:exon13:c.1464+2T>G;NM_001242878:exon11:c.1254+2T>G;NM_001242877:exon12:c.1386+2T>G;NM_001242879:exon10:c.1254+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon13:c.1464+2T>G;ENST00000351393:exon12:c.1386+2T>G;ENST00000442325:exon14:c.1659+2T>G;ENST00000423854:exon10:c.1254+2T>G;ENST00000539560:exon13:c.1464+2T>G;ENST00000350494:exon12:c.1449+2T>G;ENST00000542824:exon11:c.1254+2T>G)	.	.	0.999988247793601	0.928
18	33736620	G	A	18	36156657	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.38580140704177E-4	0.02
18	33736620	G	C	18	36156657	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998290541581813	0.758
18	33736620	G	T	18	36156657	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999721133933268	0.696
18	33736621	A	C	18	36156658	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.980448967107558	0.758
18	33736621	A	G	18	36156658	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998680090795151	0.926
18	33736621	A	T	18	36156658	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999397854558125	0.9
18	33736622	G	A	18	36156659	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999961520639365	0.996
18	33736622	G	C	18	36156659	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999366589957223	0.96
18	33736622	G	T	18	36156659	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999961875422221	0.984
18	33736623	T	A	18	36156660	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998730388566549	0.864
18	33736623	T	C	18	36156660	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996104324073934	0.902
18	33736623	T	G	18	36156660	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99876674654407	0.948
18	33736624	A	C	18	36156661	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.110761595832164	0.302
18	33736624	A	G	18	36156661	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0828302955216034	0.222
18	33736624	A	T	18	36156661	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.170859251442512	0.258
18	33736625	T	A	18	36156662	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00235536947232072	0.012
18	33736625	T	C	18	36156662	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00205844860504525	0.014
18	33736625	T	G	18	36156662	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00204756857667023	0.01
18	33738786	T	A	18	36158823	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0417997842116783	0.35
18	33738786	T	C	18	36158823	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.59758555318694E-4	0.004
18	33738786	T	G	18	36158823	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0607986024041793	0.35
18	33738787	T	A	18	36158824	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.840152932714762	0.546
18	33738787	T	C	18	36158824	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0196403938889256	0.242
18	33738787	T	G	18	36158824	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.322864008852462	0.53
18	33738788	T	A	18	36158825	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00566572033908552	0.122
18	33738788	T	C	18	36158825	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.39807946907905E-4	0.002
18	33738788	T	G	18	36158825	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.061032533738824	0.196
18	33738789	C	A	18	36158826	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.25933873111508E-4	0.048
18	33738789	C	G	18	36158826	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.10845513253817E-4	0.078
18	33738789	C	T	18	36158826	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.81052410722944E-5	0.016
18	33738790	T	A	18	36158827	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0087048019146511	0.04
18	33738790	T	C	18	36158827	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.87213178825424E-6	0.0
18	33738790	T	G	18	36158827	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00256110645695174	0.066
18	33738791	A	C	18	36158828	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00126806794202653	0.018
18	33738791	A	G	18	36158828	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.63235953342838E-4	0.028
18	33738791	A	T	18	36158828	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.79880475847251E-4	0.014
18	33738792	T	A	18	36158829	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.235954819682051	0.472
18	33738792	T	C	18	36158829	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.60794304159809E-4	0.022
18	33738792	T	G	18	36158829	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999860524133451	0.962
18	33738793	T	A	18	36158830	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.887313748502371	0.572
18	33738793	T	C	18	36158830	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.162101204959836	0.296
18	33738793	T	G	18	36158830	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.876206556168595	0.588
18	33738794	C	A	18	36158831	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.84247965837338E-5	0.008
18	33738794	C	G	18	36158831	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.49785480624649E-5	0.008
18	33738794	C	T	18	36158831	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.97328883578698E-5	0.004
18	33738795	T	A	18	36158832	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00563416186607306	0.228
18	33738795	T	C	18	36158832	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.64180061091903E-4	0.008
18	33738795	T	G	18	36158832	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.319943068804233	0.604
18	33738796	A	C	18	36158833	y	y	splicing	ELP2(NM_001242875:exon15:c.1660-2A>C;NM_001242876:exon13:c.1450-2A>C;NM_018255:exon14:c.1465-2A>C;NM_001242878:exon12:c.1255-2A>C;NM_001242877:exon13:c.1387-2A>C;NM_001242879:exon11:c.1255-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1465-2A>C;ENST00000351393:exon13:c.1387-2A>C;ENST00000442325:exon15:c.1660-2A>C;ENST00000423854:exon11:c.1255-2A>C;ENST00000539560:exon14:c.1465-2A>C;ENST00000350494:exon13:c.1450-2A>C;ENST00000542824:exon12:c.1255-2A>C)	.	.	0.999938221968836	0.896
18	33738796	A	G	18	36158833	y	y	splicing	ELP2(NM_001242875:exon15:c.1660-2A>G;NM_001242876:exon13:c.1450-2A>G;NM_018255:exon14:c.1465-2A>G;NM_001242878:exon12:c.1255-2A>G;NM_001242877:exon13:c.1387-2A>G;NM_001242879:exon11:c.1255-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1465-2A>G;ENST00000351393:exon13:c.1387-2A>G;ENST00000442325:exon15:c.1660-2A>G;ENST00000423854:exon11:c.1255-2A>G;ENST00000539560:exon14:c.1465-2A>G;ENST00000350494:exon13:c.1450-2A>G;ENST00000542824:exon12:c.1255-2A>G)	.	.	0.999938221968836	0.896
18	33738796	A	T	18	36158833	y	y	splicing	ELP2(NM_001242875:exon15:c.1660-2A>T;NM_001242876:exon13:c.1450-2A>T;NM_018255:exon14:c.1465-2A>T;NM_001242878:exon12:c.1255-2A>T;NM_001242877:exon13:c.1387-2A>T;NM_001242879:exon11:c.1255-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1465-2A>T;ENST00000351393:exon13:c.1387-2A>T;ENST00000442325:exon15:c.1660-2A>T;ENST00000423854:exon11:c.1255-2A>T;ENST00000539560:exon14:c.1465-2A>T;ENST00000350494:exon13:c.1450-2A>T;ENST00000542824:exon12:c.1255-2A>T)	.	.	0.999896524849718	0.886
18	33738797	G	A	18	36158834	y	y	splicing	ELP2(NM_001242875:exon15:c.1660-1G>A;NM_001242876:exon13:c.1450-1G>A;NM_018255:exon14:c.1465-1G>A;NM_001242878:exon12:c.1255-1G>A;NM_001242877:exon13:c.1387-1G>A;NM_001242879:exon11:c.1255-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1465-1G>A;ENST00000351393:exon13:c.1387-1G>A;ENST00000442325:exon15:c.1660-1G>A;ENST00000423854:exon11:c.1255-1G>A;ENST00000539560:exon14:c.1465-1G>A;ENST00000350494:exon13:c.1450-1G>A;ENST00000542824:exon12:c.1255-1G>A)	.	.	0.999949496871441	0.942
18	33738797	G	C	18	36158834	y	y	splicing	ELP2(NM_001242875:exon15:c.1660-1G>C;NM_001242876:exon13:c.1450-1G>C;NM_018255:exon14:c.1465-1G>C;NM_001242878:exon12:c.1255-1G>C;NM_001242877:exon13:c.1387-1G>C;NM_001242879:exon11:c.1255-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1465-1G>C;ENST00000351393:exon13:c.1387-1G>C;ENST00000442325:exon15:c.1660-1G>C;ENST00000423854:exon11:c.1255-1G>C;ENST00000539560:exon14:c.1465-1G>C;ENST00000350494:exon13:c.1450-1G>C;ENST00000542824:exon12:c.1255-1G>C)	.	.	0.999949496871441	0.946
18	33738797	G	T	18	36158834	y	y	splicing	ELP2(NM_001242875:exon15:c.1660-1G>T;NM_001242876:exon13:c.1450-1G>T;NM_018255:exon14:c.1465-1G>T;NM_001242878:exon12:c.1255-1G>T;NM_001242877:exon13:c.1387-1G>T;NM_001242879:exon11:c.1255-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1465-1G>T;ENST00000351393:exon13:c.1387-1G>T;ENST00000442325:exon15:c.1660-1G>T;ENST00000423854:exon11:c.1255-1G>T;ENST00000539560:exon14:c.1465-1G>T;ENST00000350494:exon13:c.1450-1G>T;ENST00000542824:exon12:c.1255-1G>T)	.	.	0.999949496871441	0.942
18	33738798	C	A	18	36158835	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.C1255A:p.Q419K;ELP2:NM_001242875:exon15:c.C1660A:p.Q554K;ELP2:NM_001242878:exon12:c.C1255A:p.Q419K;ELP2:NM_018255:exon14:c.C1465A:p.Q489K;ELP2:NM_001242876:exon13:c.C1450A:p.Q484K;ELP2:NM_001242877:exon13:c.C1387A:p.Q463K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.C1255A:p.Q419K;ENSG00000134759:ENST00000351393:exon13:c.C1387A:p.Q463K;ENSG00000134759:ENST00000442325:exon15:c.C1660A:p.Q554K;ENSG00000134759:ENST00000350494:exon13:c.C1450A:p.Q484K;ENSG00000134759:ENST00000423854:exon11:c.C1255A:p.Q419K;ENSG00000134759:ENST00000358232:exon14:c.C1465A:p.Q489K;ENSG00000134759:ENST00000539560:exon14:c.C1465A:p.Q489K;	1.70756135002409E-4	0.002
18	33738798	C	G	18	36158835	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.C1255G:p.Q419E;ELP2:NM_001242875:exon15:c.C1660G:p.Q554E;ELP2:NM_001242878:exon12:c.C1255G:p.Q419E;ELP2:NM_018255:exon14:c.C1465G:p.Q489E;ELP2:NM_001242876:exon13:c.C1450G:p.Q484E;ELP2:NM_001242877:exon13:c.C1387G:p.Q463E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.C1255G:p.Q419E;ENSG00000134759:ENST00000351393:exon13:c.C1387G:p.Q463E;ENSG00000134759:ENST00000442325:exon15:c.C1660G:p.Q554E;ENSG00000134759:ENST00000350494:exon13:c.C1450G:p.Q484E;ENSG00000134759:ENST00000423854:exon11:c.C1255G:p.Q419E;ENSG00000134759:ENST00000358232:exon14:c.C1465G:p.Q489E;ENSG00000134759:ENST00000539560:exon14:c.C1465G:p.Q489E;	2.79204859221914E-4	0.132
18	33738798	C	T	18	36158835	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon11:c.C1255T:p.Q419X;ELP2:NM_001242875:exon15:c.C1660T:p.Q554X;ELP2:NM_001242878:exon12:c.C1255T:p.Q419X;ELP2:NM_018255:exon14:c.C1465T:p.Q489X;ELP2:NM_001242876:exon13:c.C1450T:p.Q484X;ELP2:NM_001242877:exon13:c.C1387T:p.Q463X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon12:c.C1255T:p.Q419X;ENSG00000134759:ENST00000351393:exon13:c.C1387T:p.Q463X;ENSG00000134759:ENST00000442325:exon15:c.C1660T:p.Q554X;ENSG00000134759:ENST00000350494:exon13:c.C1450T:p.Q484X;ENSG00000134759:ENST00000423854:exon11:c.C1255T:p.Q419X;ENSG00000134759:ENST00000358232:exon14:c.C1465T:p.Q489X;ENSG00000134759:ENST00000539560:exon14:c.C1465T:p.Q489X;	0.899383061159101	0.718
18	33738799	A	C	18	36158836	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.A1256C:p.Q419P;ELP2:NM_001242875:exon15:c.A1661C:p.Q554P;ELP2:NM_001242878:exon12:c.A1256C:p.Q419P;ELP2:NM_018255:exon14:c.A1466C:p.Q489P;ELP2:NM_001242876:exon13:c.A1451C:p.Q484P;ELP2:NM_001242877:exon13:c.A1388C:p.Q463P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.A1256C:p.Q419P;ENSG00000134759:ENST00000351393:exon13:c.A1388C:p.Q463P;ENSG00000134759:ENST00000442325:exon15:c.A1661C:p.Q554P;ENSG00000134759:ENST00000350494:exon13:c.A1451C:p.Q484P;ENSG00000134759:ENST00000423854:exon11:c.A1256C:p.Q419P;ENSG00000134759:ENST00000358232:exon14:c.A1466C:p.Q489P;ENSG00000134759:ENST00000539560:exon14:c.A1466C:p.Q489P;	0.00190090672209183	0.024
18	33738799	A	G	18	36158836	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.A1256G:p.Q419R;ELP2:NM_001242875:exon15:c.A1661G:p.Q554R;ELP2:NM_001242878:exon12:c.A1256G:p.Q419R;ELP2:NM_018255:exon14:c.A1466G:p.Q489R;ELP2:NM_001242876:exon13:c.A1451G:p.Q484R;ELP2:NM_001242877:exon13:c.A1388G:p.Q463R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.A1256G:p.Q419R;ENSG00000134759:ENST00000351393:exon13:c.A1388G:p.Q463R;ENSG00000134759:ENST00000442325:exon15:c.A1661G:p.Q554R;ENSG00000134759:ENST00000350494:exon13:c.A1451G:p.Q484R;ENSG00000134759:ENST00000423854:exon11:c.A1256G:p.Q419R;ENSG00000134759:ENST00000358232:exon14:c.A1466G:p.Q489R;ENSG00000134759:ENST00000539560:exon14:c.A1466G:p.Q489R;	0.00149397970440073	0.018
18	33738799	A	T	18	36158836	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.A1256T:p.Q419L;ELP2:NM_001242875:exon15:c.A1661T:p.Q554L;ELP2:NM_001242878:exon12:c.A1256T:p.Q419L;ELP2:NM_018255:exon14:c.A1466T:p.Q489L;ELP2:NM_001242876:exon13:c.A1451T:p.Q484L;ELP2:NM_001242877:exon13:c.A1388T:p.Q463L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.A1256T:p.Q419L;ENSG00000134759:ENST00000351393:exon13:c.A1388T:p.Q463L;ENSG00000134759:ENST00000442325:exon15:c.A1661T:p.Q554L;ENSG00000134759:ENST00000350494:exon13:c.A1451T:p.Q484L;ENSG00000134759:ENST00000423854:exon11:c.A1256T:p.Q419L;ENSG00000134759:ENST00000358232:exon14:c.A1466T:p.Q489L;ENSG00000134759:ENST00000539560:exon14:c.A1466T:p.Q489L;	0.00393899704610751	0.02
18	33738865	A	C	18	36158902	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.A1322C:p.Q441P;ELP2:NM_001242875:exon15:c.A1727C:p.Q576P;ELP2:NM_001242878:exon12:c.A1322C:p.Q441P;ELP2:NM_018255:exon14:c.A1532C:p.Q511P;ELP2:NM_001242876:exon13:c.A1517C:p.Q506P;ELP2:NM_001242877:exon13:c.A1454C:p.Q485P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.A1322C:p.Q441P;ENSG00000134759:ENST00000351393:exon13:c.A1454C:p.Q485P;ENSG00000134759:ENST00000442325:exon15:c.A1727C:p.Q576P;ENSG00000134759:ENST00000350494:exon13:c.A1517C:p.Q506P;ENSG00000134759:ENST00000423854:exon11:c.A1322C:p.Q441P;ENSG00000134759:ENST00000358232:exon14:c.A1532C:p.Q511P;ENSG00000134759:ENST00000539560:exon14:c.A1532C:p.Q511P;	0.366741898498493	0.39
18	33738865	A	G	18	36158902	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.A1322G:p.Q441R;ELP2:NM_001242875:exon15:c.A1727G:p.Q576R;ELP2:NM_001242878:exon12:c.A1322G:p.Q441R;ELP2:NM_018255:exon14:c.A1532G:p.Q511R;ELP2:NM_001242876:exon13:c.A1517G:p.Q506R;ELP2:NM_001242877:exon13:c.A1454G:p.Q485R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.A1322G:p.Q441R;ENSG00000134759:ENST00000351393:exon13:c.A1454G:p.Q485R;ENSG00000134759:ENST00000442325:exon15:c.A1727G:p.Q576R;ENSG00000134759:ENST00000350494:exon13:c.A1517G:p.Q506R;ENSG00000134759:ENST00000423854:exon11:c.A1322G:p.Q441R;ENSG00000134759:ENST00000358232:exon14:c.A1532G:p.Q511R;ENSG00000134759:ENST00000539560:exon14:c.A1532G:p.Q511R;	0.631967768334717	0.384
18	33738865	A	T	18	36158902	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.A1322T:p.Q441L;ELP2:NM_001242875:exon15:c.A1727T:p.Q576L;ELP2:NM_001242878:exon12:c.A1322T:p.Q441L;ELP2:NM_018255:exon14:c.A1532T:p.Q511L;ELP2:NM_001242876:exon13:c.A1517T:p.Q506L;ELP2:NM_001242877:exon13:c.A1454T:p.Q485L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.A1322T:p.Q441L;ENSG00000134759:ENST00000351393:exon13:c.A1454T:p.Q485L;ENSG00000134759:ENST00000442325:exon15:c.A1727T:p.Q576L;ENSG00000134759:ENST00000350494:exon13:c.A1517T:p.Q506L;ENSG00000134759:ENST00000423854:exon11:c.A1322T:p.Q441L;ENSG00000134759:ENST00000358232:exon14:c.A1532T:p.Q511L;ENSG00000134759:ENST00000539560:exon14:c.A1532T:p.Q511L;	0.955624562887194	0.462
18	33738866	G	A	18	36158903	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon11:c.G1323A:p.Q441Q;ELP2:NM_001242875:exon15:c.G1728A:p.Q576Q;ELP2:NM_001242878:exon12:c.G1323A:p.Q441Q;ELP2:NM_018255:exon14:c.G1533A:p.Q511Q;ELP2:NM_001242876:exon13:c.G1518A:p.Q506Q;ELP2:NM_001242877:exon13:c.G1455A:p.Q485Q;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.G1323A:p.Q441Q;ENSG00000134759:ENST00000351393:exon13:c.G1455A:p.Q485Q;ENSG00000134759:ENST00000442325:exon15:c.G1728A:p.Q576Q;ENSG00000134759:ENST00000350494:exon13:c.G1518A:p.Q506Q;ENSG00000134759:ENST00000423854:exon11:c.G1323A:p.Q441Q;ENSG00000134759:ENST00000358232:exon14:c.G1533A:p.Q511Q;ENSG00000134759:ENST00000539560:exon14:c.G1533A:p.Q511Q;	4.61900480051942E-5	0.038
18	33738866	G	C	18	36158903	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.G1323C:p.Q441H;ELP2:NM_001242875:exon15:c.G1728C:p.Q576H;ELP2:NM_001242878:exon12:c.G1323C:p.Q441H;ELP2:NM_018255:exon14:c.G1533C:p.Q511H;ELP2:NM_001242876:exon13:c.G1518C:p.Q506H;ELP2:NM_001242877:exon13:c.G1455C:p.Q485H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.G1323C:p.Q441H;ENSG00000134759:ENST00000351393:exon13:c.G1455C:p.Q485H;ENSG00000134759:ENST00000442325:exon15:c.G1728C:p.Q576H;ENSG00000134759:ENST00000350494:exon13:c.G1518C:p.Q506H;ENSG00000134759:ENST00000423854:exon11:c.G1323C:p.Q441H;ENSG00000134759:ENST00000358232:exon14:c.G1533C:p.Q511H;ENSG00000134759:ENST00000539560:exon14:c.G1533C:p.Q511H;	4.85237657542186E-5	0.002
18	33738866	G	T	18	36158903	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.G1323T:p.Q441H;ELP2:NM_001242875:exon15:c.G1728T:p.Q576H;ELP2:NM_001242878:exon12:c.G1323T:p.Q441H;ELP2:NM_018255:exon14:c.G1533T:p.Q511H;ELP2:NM_001242876:exon13:c.G1518T:p.Q506H;ELP2:NM_001242877:exon13:c.G1455T:p.Q485H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.G1323T:p.Q441H;ENSG00000134759:ENST00000351393:exon13:c.G1455T:p.Q485H;ENSG00000134759:ENST00000442325:exon15:c.G1728T:p.Q576H;ENSG00000134759:ENST00000350494:exon13:c.G1518T:p.Q506H;ENSG00000134759:ENST00000423854:exon11:c.G1323T:p.Q441H;ENSG00000134759:ENST00000358232:exon14:c.G1533T:p.Q511H;ENSG00000134759:ENST00000539560:exon14:c.G1533T:p.Q511H;	8.28941371211361E-5	0.006
18	33738867	G	A	18	36158904	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.G1324A:p.G442R;ELP2:NM_001242875:exon15:c.G1729A:p.G577R;ELP2:NM_001242878:exon12:c.G1324A:p.G442R;ELP2:NM_018255:exon14:c.G1534A:p.G512R;ELP2:NM_001242876:exon13:c.G1519A:p.G507R;ELP2:NM_001242877:exon13:c.G1456A:p.G486R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.G1324A:p.G442R;ENSG00000134759:ENST00000351393:exon13:c.G1456A:p.G486R;ENSG00000134759:ENST00000442325:exon15:c.G1729A:p.G577R;ENSG00000134759:ENST00000350494:exon13:c.G1519A:p.G507R;ENSG00000134759:ENST00000423854:exon11:c.G1324A:p.G442R;ENSG00000134759:ENST00000358232:exon14:c.G1534A:p.G512R;ENSG00000134759:ENST00000539560:exon14:c.G1534A:p.G512R;	0.999977413167231	0.99
18	33738867	G	C	18	36158904	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon11:c.G1324C:p.G442R;ELP2:NM_001242875:exon15:c.G1729C:p.G577R;ELP2:NM_001242878:exon12:c.G1324C:p.G442R;ELP2:NM_018255:exon14:c.G1534C:p.G512R;ELP2:NM_001242876:exon13:c.G1519C:p.G507R;ELP2:NM_001242877:exon13:c.G1456C:p.G486R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon12:c.G1324C:p.G442R;ENSG00000134759:ENST00000351393:exon13:c.G1456C:p.G486R;ENSG00000134759:ENST00000442325:exon15:c.G1729C:p.G577R;ENSG00000134759:ENST00000350494:exon13:c.G1519C:p.G507R;ENSG00000134759:ENST00000423854:exon11:c.G1324C:p.G442R;ENSG00000134759:ENST00000358232:exon14:c.G1534C:p.G512R;ENSG00000134759:ENST00000539560:exon14:c.G1534C:p.G512R;	0.999995565727608	0.986
18	33738867	G	T	18	36158904	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon11:c.G1324T:p.G442X;ELP2:NM_001242875:exon15:c.G1729T:p.G577X;ELP2:NM_001242878:exon12:c.G1324T:p.G442X;ELP2:NM_018255:exon14:c.G1534T:p.G512X;ELP2:NM_001242876:exon13:c.G1519T:p.G507X;ELP2:NM_001242877:exon13:c.G1456T:p.G486X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon12:c.G1324T:p.G442X;ENSG00000134759:ENST00000351393:exon13:c.G1456T:p.G486X;ENSG00000134759:ENST00000442325:exon15:c.G1729T:p.G577X;ENSG00000134759:ENST00000350494:exon13:c.G1519T:p.G507X;ENSG00000134759:ENST00000423854:exon11:c.G1324T:p.G442X;ENSG00000134759:ENST00000358232:exon14:c.G1534T:p.G512X;ENSG00000134759:ENST00000539560:exon14:c.G1534T:p.G512X;	0.999994850797926	0.97
18	33738868	G	A	18	36158905	y	y	splicing	ELP2(NM_001242875:exon15:c.1729+1G>A;NM_001242876:exon13:c.1519+1G>A;NM_018255:exon14:c.1534+1G>A;NM_001242878:exon12:c.1324+1G>A;NM_001242877:exon13:c.1456+1G>A;NM_001242879:exon11:c.1324+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1534+1G>A;ENST00000351393:exon13:c.1456+1G>A;ENST00000442325:exon15:c.1729+1G>A;ENST00000423854:exon11:c.1324+1G>A;ENST00000539560:exon14:c.1534+1G>A;ENST00000350494:exon13:c.1519+1G>A;ENST00000542824:exon12:c.1324+1G>A)	.	.	0.999989072007339	0.934
18	33738868	G	C	18	36158905	y	y	splicing	ELP2(NM_001242875:exon15:c.1729+1G>C;NM_001242876:exon13:c.1519+1G>C;NM_018255:exon14:c.1534+1G>C;NM_001242878:exon12:c.1324+1G>C;NM_001242877:exon13:c.1456+1G>C;NM_001242879:exon11:c.1324+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1534+1G>C;ENST00000351393:exon13:c.1456+1G>C;ENST00000442325:exon15:c.1729+1G>C;ENST00000423854:exon11:c.1324+1G>C;ENST00000539560:exon14:c.1534+1G>C;ENST00000350494:exon13:c.1519+1G>C;ENST00000542824:exon12:c.1324+1G>C)	.	.	0.999989072007339	0.934
18	33738868	G	T	18	36158905	y	y	splicing	ELP2(NM_001242875:exon15:c.1729+1G>T;NM_001242876:exon13:c.1519+1G>T;NM_018255:exon14:c.1534+1G>T;NM_001242878:exon12:c.1324+1G>T;NM_001242877:exon13:c.1456+1G>T;NM_001242879:exon11:c.1324+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1534+1G>T;ENST00000351393:exon13:c.1456+1G>T;ENST00000442325:exon15:c.1729+1G>T;ENST00000423854:exon11:c.1324+1G>T;ENST00000539560:exon14:c.1534+1G>T;ENST00000350494:exon13:c.1519+1G>T;ENST00000542824:exon12:c.1324+1G>T)	.	.	0.999989072007339	0.934
18	33738869	T	A	18	36158906	y	y	splicing	ELP2(NM_001242875:exon15:c.1729+2T>A;NM_001242876:exon13:c.1519+2T>A;NM_018255:exon14:c.1534+2T>A;NM_001242878:exon12:c.1324+2T>A;NM_001242877:exon13:c.1456+2T>A;NM_001242879:exon11:c.1324+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1534+2T>A;ENST00000351393:exon13:c.1456+2T>A;ENST00000442325:exon15:c.1729+2T>A;ENST00000423854:exon11:c.1324+2T>A;ENST00000539560:exon14:c.1534+2T>A;ENST00000350494:exon13:c.1519+2T>A;ENST00000542824:exon12:c.1324+2T>A)	.	.	0.999988247793601	0.932
18	33738869	T	C	18	36158906	y	y	splicing	ELP2(NM_001242875:exon15:c.1729+2T>C;NM_001242876:exon13:c.1519+2T>C;NM_018255:exon14:c.1534+2T>C;NM_001242878:exon12:c.1324+2T>C;NM_001242877:exon13:c.1456+2T>C;NM_001242879:exon11:c.1324+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1534+2T>C;ENST00000351393:exon13:c.1456+2T>C;ENST00000442325:exon15:c.1729+2T>C;ENST00000423854:exon11:c.1324+2T>C;ENST00000539560:exon14:c.1534+2T>C;ENST00000350494:exon13:c.1519+2T>C;ENST00000542824:exon12:c.1324+2T>C)	.	.	0.999931547473318	0.888
18	33738869	T	G	18	36158906	y	y	splicing	ELP2(NM_001242875:exon15:c.1729+2T>G;NM_001242876:exon13:c.1519+2T>G;NM_018255:exon14:c.1534+2T>G;NM_001242878:exon12:c.1324+2T>G;NM_001242877:exon13:c.1456+2T>G;NM_001242879:exon11:c.1324+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon14:c.1534+2T>G;ENST00000351393:exon13:c.1456+2T>G;ENST00000442325:exon15:c.1729+2T>G;ENST00000423854:exon11:c.1324+2T>G;ENST00000539560:exon14:c.1534+2T>G;ENST00000350494:exon13:c.1519+2T>G;ENST00000542824:exon12:c.1324+2T>G)	.	.	0.999988247793601	0.932
18	33738870	A	C	18	36158907	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999797251236821	0.978
18	33738870	A	G	18	36158907	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.958088166325404	0.626
18	33738870	A	T	18	36158907	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99968847473808	0.962
18	33738871	A	C	18	36158908	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995328726909359	0.854
18	33738871	A	G	18	36158908	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997712446020072	0.924
18	33738871	A	T	18	36158908	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997949858227586	0.858
18	33738872	G	A	18	36158909	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999848571684358	0.892
18	33738872	G	C	18	36158909	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999550477567411	0.92
18	33738872	G	T	18	36158909	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999764895100703	0.782
18	33738873	G	A	18	36158910	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.9404001812268E-4	0.028
18	33738873	G	C	18	36158910	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.27437633712814E-4	0.028
18	33738873	G	T	18	36158910	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.07110607494029E-5	0.016
18	33738874	C	A	18	36158911	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.79030461701892E-4	0.0
18	33738874	C	G	18	36158911	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.08077837989861E-4	0.0
18	33738874	C	T	18	36158911	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.43964651472959E-4	0.0
18	33738875	T	A	18	36158912	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0198184408777868	0.112
18	33738875	T	C	18	36158912	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0102106360961895	0.086
18	33738875	T	G	18	36158912	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0102106360961895	0.072
18	33739686	T	A	18	36159723	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.756069776474369	0.686
18	33739686	T	C	18	36159723	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.42436822346097E-4	0.052
18	33739686	T	G	18	36159723	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.173619521230044	0.47
18	33739687	C	A	18	36159724	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0128299923447326	0.086
18	33739687	C	G	18	36159724	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00486248267238056	0.112
18	33739687	C	T	18	36159724	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.36454480466742E-4	0.034
18	33739688	T	A	18	36159725	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.649778655563986	0.624
18	33739688	T	C	18	36159725	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00104677718956021	0.048
18	33739688	T	G	18	36159725	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.15645021798556	0.478
18	33739689	T	A	18	36159726	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.791440026566815	0.64
18	33739689	T	C	18	36159726	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00189883720026357	0.026
18	33739689	T	G	18	36159726	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.411623968420635	0.588
18	33739690	C	A	18	36159727	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.2346434727221E-4	0.038
18	33739690	C	G	18	36159727	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0011835736695415	0.052
18	33739690	C	T	18	36159727	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.63588039363189E-5	0.0
18	33739691	A	C	18	36159728	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.43826876344699E-4	0.01
18	33739691	A	G	18	36159728	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0024601507045572	0.188
18	33739691	A	T	18	36159728	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.05436251382367E-4	0.012
18	33739692	A	C	18	36159729	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.87006423138084E-5	0.072
18	33739692	A	G	18	36159729	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998912853114382	0.964
18	33739692	A	T	18	36159729	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.62804384368189E-5	0.06
18	33739693	A	C	18	36159730	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.86669121074044E-4	0.042
18	33739693	A	G	18	36159730	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998458358211493	0.948
18	33739693	A	T	18	36159730	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.29628764994392E-4	0.038
18	33739694	C	A	18	36159731	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00145602697358451	0.052
18	33739694	C	G	18	36159731	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.993277765928919	0.846
18	33739694	C	T	18	36159731	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00429171000050248	0.08
18	33739695	T	A	18	36159732	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.492439434155568	0.358
18	33739695	T	C	18	36159732	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00174288830665932	0.032
18	33739695	T	G	18	36159732	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997310205246655	0.748
18	33739696	A	C	18	36159733	y	y	splicing	ELP2(NM_001242875:exon16:c.1730-2A>C;NM_001242876:exon14:c.1520-2A>C;NM_018255:exon15:c.1535-2A>C;NM_001242878:exon13:c.1325-2A>C;NM_001242877:exon14:c.1457-2A>C;NM_001242879:exon12:c.1325-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1535-2A>C;ENST00000351393:exon14:c.1457-2A>C;ENST00000442325:exon16:c.1730-2A>C;ENST00000423854:exon12:c.1325-2A>C;ENST00000539560:exon15:c.1535-2A>C;ENST00000350494:exon14:c.1520-2A>C;ENST00000542824:exon13:c.1325-2A>C)	.	.	0.999986756833409	0.906
18	33739696	A	G	18	36159733	y	y	splicing	ELP2(NM_001242875:exon16:c.1730-2A>G;NM_001242876:exon14:c.1520-2A>G;NM_018255:exon15:c.1535-2A>G;NM_001242878:exon13:c.1325-2A>G;NM_001242877:exon14:c.1457-2A>G;NM_001242879:exon12:c.1325-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1535-2A>G;ENST00000351393:exon14:c.1457-2A>G;ENST00000442325:exon16:c.1730-2A>G;ENST00000423854:exon12:c.1325-2A>G;ENST00000539560:exon15:c.1535-2A>G;ENST00000350494:exon14:c.1520-2A>G;ENST00000542824:exon13:c.1325-2A>G)	.	.	0.999986756833409	0.906
18	33739696	A	T	18	36159733	y	y	splicing	ELP2(NM_001242875:exon16:c.1730-2A>T;NM_001242876:exon14:c.1520-2A>T;NM_018255:exon15:c.1535-2A>T;NM_001242878:exon13:c.1325-2A>T;NM_001242877:exon14:c.1457-2A>T;NM_001242879:exon12:c.1325-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1535-2A>T;ENST00000351393:exon14:c.1457-2A>T;ENST00000442325:exon16:c.1730-2A>T;ENST00000423854:exon12:c.1325-2A>T;ENST00000539560:exon15:c.1535-2A>T;ENST00000350494:exon14:c.1520-2A>T;ENST00000542824:exon13:c.1325-2A>T)	.	.	0.999986756833409	0.906
18	33739697	G	A	18	36159734	y	y	splicing	ELP2(NM_001242875:exon16:c.1730-1G>A;NM_001242876:exon14:c.1520-1G>A;NM_018255:exon15:c.1535-1G>A;NM_001242878:exon13:c.1325-1G>A;NM_001242877:exon14:c.1457-1G>A;NM_001242879:exon12:c.1325-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1535-1G>A;ENST00000351393:exon14:c.1457-1G>A;ENST00000442325:exon16:c.1730-1G>A;ENST00000423854:exon12:c.1325-1G>A;ENST00000539560:exon15:c.1535-1G>A;ENST00000350494:exon14:c.1520-1G>A;ENST00000542824:exon13:c.1325-1G>A)	.	.	0.999979394981131	0.904
18	33739697	G	C	18	36159734	y	y	splicing	ELP2(NM_001242875:exon16:c.1730-1G>C;NM_001242876:exon14:c.1520-1G>C;NM_018255:exon15:c.1535-1G>C;NM_001242878:exon13:c.1325-1G>C;NM_001242877:exon14:c.1457-1G>C;NM_001242879:exon12:c.1325-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1535-1G>C;ENST00000351393:exon14:c.1457-1G>C;ENST00000442325:exon16:c.1730-1G>C;ENST00000423854:exon12:c.1325-1G>C;ENST00000539560:exon15:c.1535-1G>C;ENST00000350494:exon14:c.1520-1G>C;ENST00000542824:exon13:c.1325-1G>C)	.	.	0.999959626360342	0.898
18	33739697	G	T	18	36159734	y	y	splicing	ELP2(NM_001242875:exon16:c.1730-1G>T;NM_001242876:exon14:c.1520-1G>T;NM_018255:exon15:c.1535-1G>T;NM_001242878:exon13:c.1325-1G>T;NM_001242877:exon14:c.1457-1G>T;NM_001242879:exon12:c.1325-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1535-1G>T;ENST00000351393:exon14:c.1457-1G>T;ENST00000442325:exon16:c.1730-1G>T;ENST00000423854:exon12:c.1325-1G>T;ENST00000539560:exon15:c.1535-1G>T;ENST00000350494:exon14:c.1520-1G>T;ENST00000542824:exon13:c.1325-1G>T)	.	.	0.999979394981131	0.904
18	33739698	G	A	18	36159735	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon12:c.G1325A:p.G442E;ELP2:NM_001242875:exon16:c.G1730A:p.G577E;ELP2:NM_001242878:exon13:c.G1325A:p.G442E;ELP2:NM_018255:exon15:c.G1535A:p.G512E;ELP2:NM_001242876:exon14:c.G1520A:p.G507E;ELP2:NM_001242877:exon14:c.G1457A:p.G486E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon13:c.G1325A:p.G442E;ENSG00000134759:ENST00000351393:exon14:c.G1457A:p.G486E;ENSG00000134759:ENST00000442325:exon16:c.G1730A:p.G577E;ENSG00000134759:ENST00000350494:exon14:c.G1520A:p.G507E;ENSG00000134759:ENST00000423854:exon12:c.G1325A:p.G442E;ENSG00000134759:ENST00000358232:exon15:c.G1535A:p.G512E;ENSG00000134759:ENST00000539560:exon15:c.G1535A:p.G512E;	0.943279525325758	0.726
18	33739698	G	C	18	36159735	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon12:c.G1325C:p.G442A;ELP2:NM_001242875:exon16:c.G1730C:p.G577A;ELP2:NM_001242878:exon13:c.G1325C:p.G442A;ELP2:NM_018255:exon15:c.G1535C:p.G512A;ELP2:NM_001242876:exon14:c.G1520C:p.G507A;ELP2:NM_001242877:exon14:c.G1457C:p.G486A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon13:c.G1325C:p.G442A;ENSG00000134759:ENST00000351393:exon14:c.G1457C:p.G486A;ENSG00000134759:ENST00000442325:exon16:c.G1730C:p.G577A;ENSG00000134759:ENST00000350494:exon14:c.G1520C:p.G507A;ENSG00000134759:ENST00000423854:exon12:c.G1325C:p.G442A;ENSG00000134759:ENST00000358232:exon15:c.G1535C:p.G512A;ENSG00000134759:ENST00000539560:exon15:c.G1535C:p.G512A;	0.959467320382553	0.678
18	33739698	G	T	18	36159735	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon12:c.G1325T:p.G442V;ELP2:NM_001242875:exon16:c.G1730T:p.G577V;ELP2:NM_001242878:exon13:c.G1325T:p.G442V;ELP2:NM_018255:exon15:c.G1535T:p.G512V;ELP2:NM_001242876:exon14:c.G1520T:p.G507V;ELP2:NM_001242877:exon14:c.G1457T:p.G486V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon13:c.G1325T:p.G442V;ENSG00000134759:ENST00000351393:exon14:c.G1457T:p.G486V;ENSG00000134759:ENST00000442325:exon16:c.G1730T:p.G577V;ENSG00000134759:ENST00000350494:exon14:c.G1520T:p.G507V;ENSG00000134759:ENST00000423854:exon12:c.G1325T:p.G442V;ENSG00000134759:ENST00000358232:exon15:c.G1535T:p.G512V;ENSG00000134759:ENST00000539560:exon15:c.G1535T:p.G512V;	0.998969415826343	0.954
18	33739699	A	C	18	36159736	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon12:c.A1326C:p.G442G;ELP2:NM_001242875:exon16:c.A1731C:p.G577G;ELP2:NM_001242878:exon13:c.A1326C:p.G442G;ELP2:NM_018255:exon15:c.A1536C:p.G512G;ELP2:NM_001242876:exon14:c.A1521C:p.G507G;ELP2:NM_001242877:exon14:c.A1458C:p.G486G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon13:c.A1326C:p.G442G;ENSG00000134759:ENST00000351393:exon14:c.A1458C:p.G486G;ENSG00000134759:ENST00000442325:exon16:c.A1731C:p.G577G;ENSG00000134759:ENST00000350494:exon14:c.A1521C:p.G507G;ENSG00000134759:ENST00000423854:exon12:c.A1326C:p.G442G;ENSG00000134759:ENST00000358232:exon15:c.A1536C:p.G512G;ENSG00000134759:ENST00000539560:exon15:c.A1536C:p.G512G;	0.0895691354638364	0.436
18	33739699	A	G	18	36159736	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon12:c.A1326G:p.G442G;ELP2:NM_001242875:exon16:c.A1731G:p.G577G;ELP2:NM_001242878:exon13:c.A1326G:p.G442G;ELP2:NM_018255:exon15:c.A1536G:p.G512G;ELP2:NM_001242876:exon14:c.A1521G:p.G507G;ELP2:NM_001242877:exon14:c.A1458G:p.G486G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon13:c.A1326G:p.G442G;ENSG00000134759:ENST00000351393:exon14:c.A1458G:p.G486G;ENSG00000134759:ENST00000442325:exon16:c.A1731G:p.G577G;ENSG00000134759:ENST00000350494:exon14:c.A1521G:p.G507G;ENSG00000134759:ENST00000423854:exon12:c.A1326G:p.G442G;ENSG00000134759:ENST00000358232:exon15:c.A1536G:p.G512G;ENSG00000134759:ENST00000539560:exon15:c.A1536G:p.G512G;	0.0593037765651433	0.376
18	33739699	A	T	18	36159736	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon12:c.A1326T:p.G442G;ELP2:NM_001242875:exon16:c.A1731T:p.G577G;ELP2:NM_001242878:exon13:c.A1326T:p.G442G;ELP2:NM_018255:exon15:c.A1536T:p.G512G;ELP2:NM_001242876:exon14:c.A1521T:p.G507G;ELP2:NM_001242877:exon14:c.A1458T:p.G486G;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon13:c.A1326T:p.G442G;ENSG00000134759:ENST00000351393:exon14:c.A1458T:p.G486G;ENSG00000134759:ENST00000442325:exon16:c.A1731T:p.G577G;ENSG00000134759:ENST00000350494:exon14:c.A1521T:p.G507G;ENSG00000134759:ENST00000423854:exon12:c.A1326T:p.G442G;ENSG00000134759:ENST00000358232:exon15:c.A1536T:p.G512G;ENSG00000134759:ENST00000539560:exon15:c.A1536T:p.G512G;	0.0547012199648644	0.464
18	33739791	C	A	18	36159828	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon12:c.C1418A:p.T473N;ELP2:NM_001242875:exon16:c.C1823A:p.T608N;ELP2:NM_001242878:exon13:c.C1418A:p.T473N;ELP2:NM_018255:exon15:c.C1628A:p.T543N;ELP2:NM_001242876:exon14:c.C1613A:p.T538N;ELP2:NM_001242877:exon14:c.C1550A:p.T517N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon1:c.C71A:p.T24N;ENSG00000134759:ENST00000542824:exon13:c.C1418A:p.T473N;ENSG00000134759:ENST00000351393:exon14:c.C1550A:p.T517N;ENSG00000134759:ENST00000442325:exon16:c.C1823A:p.T608N;ENSG00000134759:ENST00000350494:exon14:c.C1613A:p.T538N;ENSG00000134759:ENST00000423854:exon12:c.C1418A:p.T473N;ENSG00000134759:ENST00000358232:exon15:c.C1628A:p.T543N;ENSG00000134759:ENST00000539560:exon15:c.C1628A:p.T543N;	3.14632562874409E-4	0.034
18	33739791	C	G	18	36159828	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon12:c.C1418G:p.T473S;ELP2:NM_001242875:exon16:c.C1823G:p.T608S;ELP2:NM_001242878:exon13:c.C1418G:p.T473S;ELP2:NM_018255:exon15:c.C1628G:p.T543S;ELP2:NM_001242876:exon14:c.C1613G:p.T538S;ELP2:NM_001242877:exon14:c.C1550G:p.T517S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon1:c.C71G:p.T24S;ENSG00000134759:ENST00000542824:exon13:c.C1418G:p.T473S;ENSG00000134759:ENST00000351393:exon14:c.C1550G:p.T517S;ENSG00000134759:ENST00000442325:exon16:c.C1823G:p.T608S;ENSG00000134759:ENST00000350494:exon14:c.C1613G:p.T538S;ENSG00000134759:ENST00000423854:exon12:c.C1418G:p.T473S;ENSG00000134759:ENST00000358232:exon15:c.C1628G:p.T543S;ENSG00000134759:ENST00000539560:exon15:c.C1628G:p.T543S;	1.2294482075654E-4	0.012
18	33739791	C	T	18	36159828	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon12:c.C1418T:p.T473I;ELP2:NM_001242875:exon16:c.C1823T:p.T608I;ELP2:NM_001242878:exon13:c.C1418T:p.T473I;ELP2:NM_018255:exon15:c.C1628T:p.T543I;ELP2:NM_001242876:exon14:c.C1613T:p.T538I;ELP2:NM_001242877:exon14:c.C1550T:p.T517I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon1:c.C71T:p.T24I;ENSG00000134759:ENST00000542824:exon13:c.C1418T:p.T473I;ENSG00000134759:ENST00000351393:exon14:c.C1550T:p.T517I;ENSG00000134759:ENST00000442325:exon16:c.C1823T:p.T608I;ENSG00000134759:ENST00000350494:exon14:c.C1613T:p.T538I;ENSG00000134759:ENST00000423854:exon12:c.C1418T:p.T473I;ENSG00000134759:ENST00000358232:exon15:c.C1628T:p.T543I;ENSG00000134759:ENST00000539560:exon15:c.C1628T:p.T543I;	0.00278371384896049	0.114
18	33739792	T	A	18	36159829	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon12:c.T1419A:p.T473T;ELP2:NM_001242875:exon16:c.T1824A:p.T608T;ELP2:NM_001242878:exon13:c.T1419A:p.T473T;ELP2:NM_018255:exon15:c.T1629A:p.T543T;ELP2:NM_001242876:exon14:c.T1614A:p.T538T;ELP2:NM_001242877:exon14:c.T1551A:p.T517T;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000540766:exon1:c.T72A:p.T24T;ENSG00000134759:ENST00000542824:exon13:c.T1419A:p.T473T;ENSG00000134759:ENST00000351393:exon14:c.T1551A:p.T517T;ENSG00000134759:ENST00000442325:exon16:c.T1824A:p.T608T;ENSG00000134759:ENST00000350494:exon14:c.T1614A:p.T538T;ENSG00000134759:ENST00000423854:exon12:c.T1419A:p.T473T;ENSG00000134759:ENST00000358232:exon15:c.T1629A:p.T543T;ENSG00000134759:ENST00000539560:exon15:c.T1629A:p.T543T;	0.00148149733783475	0.138
18	33739792	T	C	18	36159829	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon12:c.T1419C:p.T473T;ELP2:NM_001242875:exon16:c.T1824C:p.T608T;ELP2:NM_001242878:exon13:c.T1419C:p.T473T;ELP2:NM_018255:exon15:c.T1629C:p.T543T;ELP2:NM_001242876:exon14:c.T1614C:p.T538T;ELP2:NM_001242877:exon14:c.T1551C:p.T517T;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000540766:exon1:c.T72C:p.T24T;ENSG00000134759:ENST00000542824:exon13:c.T1419C:p.T473T;ENSG00000134759:ENST00000351393:exon14:c.T1551C:p.T517T;ENSG00000134759:ENST00000442325:exon16:c.T1824C:p.T608T;ENSG00000134759:ENST00000350494:exon14:c.T1614C:p.T538T;ENSG00000134759:ENST00000423854:exon12:c.T1419C:p.T473T;ENSG00000134759:ENST00000358232:exon15:c.T1629C:p.T543T;ENSG00000134759:ENST00000539560:exon15:c.T1629C:p.T543T;	0.00383106332338443	0.042
18	33739792	T	G	18	36159829	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon12:c.T1419G:p.T473T;ELP2:NM_001242875:exon16:c.T1824G:p.T608T;ELP2:NM_001242878:exon13:c.T1419G:p.T473T;ELP2:NM_018255:exon15:c.T1629G:p.T543T;ELP2:NM_001242876:exon14:c.T1614G:p.T538T;ELP2:NM_001242877:exon14:c.T1551G:p.T517T;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000540766:exon1:c.T72G:p.T24T;ENSG00000134759:ENST00000542824:exon13:c.T1419G:p.T473T;ENSG00000134759:ENST00000351393:exon14:c.T1551G:p.T517T;ENSG00000134759:ENST00000442325:exon16:c.T1824G:p.T608T;ENSG00000134759:ENST00000350494:exon14:c.T1614G:p.T538T;ENSG00000134759:ENST00000423854:exon12:c.T1419G:p.T473T;ENSG00000134759:ENST00000358232:exon15:c.T1629G:p.T543T;ENSG00000134759:ENST00000539560:exon15:c.T1629G:p.T543T;	0.00485391029853719	0.032
18	33739793	G	A	18	36159830	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon12:c.G1420A:p.E474K;ELP2:NM_001242875:exon16:c.G1825A:p.E609K;ELP2:NM_001242878:exon13:c.G1420A:p.E474K;ELP2:NM_018255:exon15:c.G1630A:p.E544K;ELP2:NM_001242876:exon14:c.G1615A:p.E539K;ELP2:NM_001242877:exon14:c.G1552A:p.E518K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon1:c.G73A:p.E25K;ENSG00000134759:ENST00000542824:exon13:c.G1420A:p.E474K;ENSG00000134759:ENST00000351393:exon14:c.G1552A:p.E518K;ENSG00000134759:ENST00000442325:exon16:c.G1825A:p.E609K;ENSG00000134759:ENST00000350494:exon14:c.G1615A:p.E539K;ENSG00000134759:ENST00000423854:exon12:c.G1420A:p.E474K;ENSG00000134759:ENST00000358232:exon15:c.G1630A:p.E544K;ENSG00000134759:ENST00000539560:exon15:c.G1630A:p.E544K;	0.999931073183433	0.982
18	33739793	G	C	18	36159830	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon12:c.G1420C:p.E474Q;ELP2:NM_001242875:exon16:c.G1825C:p.E609Q;ELP2:NM_001242878:exon13:c.G1420C:p.E474Q;ELP2:NM_018255:exon15:c.G1630C:p.E544Q;ELP2:NM_001242876:exon14:c.G1615C:p.E539Q;ELP2:NM_001242877:exon14:c.G1552C:p.E518Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon1:c.G73C:p.E25Q;ENSG00000134759:ENST00000542824:exon13:c.G1420C:p.E474Q;ENSG00000134759:ENST00000351393:exon14:c.G1552C:p.E518Q;ENSG00000134759:ENST00000442325:exon16:c.G1825C:p.E609Q;ENSG00000134759:ENST00000350494:exon14:c.G1615C:p.E539Q;ENSG00000134759:ENST00000423854:exon12:c.G1420C:p.E474Q;ENSG00000134759:ENST00000358232:exon15:c.G1630C:p.E544Q;ENSG00000134759:ENST00000539560:exon15:c.G1630C:p.E544Q;	0.999984774390755	0.988
18	33739793	G	T	18	36159830	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon12:c.G1420T:p.E474X;ELP2:NM_001242875:exon16:c.G1825T:p.E609X;ELP2:NM_001242878:exon13:c.G1420T:p.E474X;ELP2:NM_018255:exon15:c.G1630T:p.E544X;ELP2:NM_001242876:exon14:c.G1615T:p.E539X;ELP2:NM_001242877:exon14:c.G1552T:p.E518X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000540766:exon1:c.G73T:p.E25X;ENSG00000134759:ENST00000542824:exon13:c.G1420T:p.E474X;ENSG00000134759:ENST00000351393:exon14:c.G1552T:p.E518X;ENSG00000134759:ENST00000442325:exon16:c.G1825T:p.E609X;ENSG00000134759:ENST00000350494:exon14:c.G1615T:p.E539X;ENSG00000134759:ENST00000423854:exon12:c.G1420T:p.E474X;ENSG00000134759:ENST00000358232:exon15:c.G1630T:p.E544X;ENSG00000134759:ENST00000539560:exon15:c.G1630T:p.E544X;	0.999989037805647	0.984
18	33739794	G	A	18	36159831	y	y	splicing	ELP2(NM_001242875:exon16:c.1825+1G>A;NM_001242876:exon14:c.1615+1G>A;NM_018255:exon15:c.1630+1G>A;NM_001242878:exon13:c.1420+1G>A;NM_001242877:exon14:c.1552+1G>A;NM_001242879:exon12:c.1420+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1630+1G>A;ENST00000351393:exon14:c.1552+1G>A;ENST00000442325:exon16:c.1825+1G>A;ENST00000423854:exon12:c.1420+1G>A;ENST00000539560:exon15:c.1630+1G>A;ENST00000350494:exon14:c.1615+1G>A;ENST00000542824:exon13:c.1420+1G>A;ENST00000540766:exon1:c.73+1G>A)	.	.	0.999986675681007	0.926
18	33739794	G	C	18	36159831	y	y	splicing	ELP2(NM_001242875:exon16:c.1825+1G>C;NM_001242876:exon14:c.1615+1G>C;NM_018255:exon15:c.1630+1G>C;NM_001242878:exon13:c.1420+1G>C;NM_001242877:exon14:c.1552+1G>C;NM_001242879:exon12:c.1420+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1630+1G>C;ENST00000351393:exon14:c.1552+1G>C;ENST00000442325:exon16:c.1825+1G>C;ENST00000423854:exon12:c.1420+1G>C;ENST00000539560:exon15:c.1630+1G>C;ENST00000350494:exon14:c.1615+1G>C;ENST00000542824:exon13:c.1420+1G>C;ENST00000540766:exon1:c.73+1G>C)	.	.	0.999986675681007	0.924
18	33739794	G	T	18	36159831	y	y	splicing	ELP2(NM_001242875:exon16:c.1825+1G>T;NM_001242876:exon14:c.1615+1G>T;NM_018255:exon15:c.1630+1G>T;NM_001242878:exon13:c.1420+1G>T;NM_001242877:exon14:c.1552+1G>T;NM_001242879:exon12:c.1420+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1630+1G>T;ENST00000351393:exon14:c.1552+1G>T;ENST00000442325:exon16:c.1825+1G>T;ENST00000423854:exon12:c.1420+1G>T;ENST00000539560:exon15:c.1630+1G>T;ENST00000350494:exon14:c.1615+1G>T;ENST00000542824:exon13:c.1420+1G>T;ENST00000540766:exon1:c.73+1G>T)	.	.	0.999986675681007	0.926
18	33739795	T	A	18	36159832	y	y	splicing	ELP2(NM_001242875:exon16:c.1825+2T>A;NM_001242876:exon14:c.1615+2T>A;NM_018255:exon15:c.1630+2T>A;NM_001242878:exon13:c.1420+2T>A;NM_001242877:exon14:c.1552+2T>A;NM_001242879:exon12:c.1420+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1630+2T>A;ENST00000351393:exon14:c.1552+2T>A;ENST00000442325:exon16:c.1825+2T>A;ENST00000423854:exon12:c.1420+2T>A;ENST00000539560:exon15:c.1630+2T>A;ENST00000350494:exon14:c.1615+2T>A;ENST00000542824:exon13:c.1420+2T>A;ENST00000540766:exon1:c.73+2T>A)	.	.	0.999988247793601	0.926
18	33739795	T	C	18	36159832	y	y	splicing	ELP2(NM_001242875:exon16:c.1825+2T>C;NM_001242876:exon14:c.1615+2T>C;NM_018255:exon15:c.1630+2T>C;NM_001242878:exon13:c.1420+2T>C;NM_001242877:exon14:c.1552+2T>C;NM_001242879:exon12:c.1420+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1630+2T>C;ENST00000351393:exon14:c.1552+2T>C;ENST00000442325:exon16:c.1825+2T>C;ENST00000423854:exon12:c.1420+2T>C;ENST00000539560:exon15:c.1630+2T>C;ENST00000350494:exon14:c.1615+2T>C;ENST00000542824:exon13:c.1420+2T>C;ENST00000540766:exon1:c.73+2T>C)	.	.	0.999909339234421	0.876
18	33739795	T	G	18	36159832	y	y	splicing	ELP2(NM_001242875:exon16:c.1825+2T>G;NM_001242876:exon14:c.1615+2T>G;NM_018255:exon15:c.1630+2T>G;NM_001242878:exon13:c.1420+2T>G;NM_001242877:exon14:c.1552+2T>G;NM_001242879:exon12:c.1420+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon15:c.1630+2T>G;ENST00000351393:exon14:c.1552+2T>G;ENST00000442325:exon16:c.1825+2T>G;ENST00000423854:exon12:c.1420+2T>G;ENST00000539560:exon15:c.1630+2T>G;ENST00000350494:exon14:c.1615+2T>G;ENST00000542824:exon13:c.1420+2T>G;ENST00000540766:exon1:c.73+2T>G)	.	.	0.999988247793601	0.926
18	33739796	A	C	18	36159833	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998325814068054	0.95
18	33739796	A	G	18	36159833	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.991322147413148	0.578
18	33739796	A	T	18	36159833	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999028948649035	0.94
18	33739797	A	C	18	36159834	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.912697965686232	0.626
18	33739797	A	G	18	36159834	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.947053513899255	0.696
18	33739797	A	T	18	36159834	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.966831546577819	0.694
18	33739798	G	A	18	36159835	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999787615286362	0.938
18	33739798	G	C	18	36159835	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999307711293567	0.904
18	33739798	G	T	18	36159835	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999537738075329	0.88
18	33739799	A	C	18	36159836	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.21630496287228E-4	0.012
18	33739799	A	G	18	36159836	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.20658070602989E-5	0.0
18	33739799	A	T	18	36159836	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.90226283777675E-5	0.006
18	33739800	T	A	18	36159837	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.67661742432517E-5	0.0
18	33739800	T	C	18	36159837	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.6183603433844E-5	0.0
18	33739800	T	G	18	36159837	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.31671506638536E-5	0.0
18	33739801	G	A	18	36159838	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.58992702814738E-5	0.0
18	33739801	G	C	18	36159838	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.81104709051921E-5	0.0
18	33739801	G	T	18	36159838	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.47348756796826E-5	0.0
18	33739909	A	C	18	36159946	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.12970661540002E-4	0.058
18	33739909	A	G	18	36159946	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.49722958481387E-4	0.034
18	33739909	A	T	18	36159946	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.00996757115144E-4	0.062
18	33739910	A	C	18	36159947	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00398251597179231	0.17
18	33739910	A	G	18	36159947	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999518947022294	0.952
18	33739910	A	T	18	36159947	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0097513085160251	0.452
18	33739911	T	A	18	36159948	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999767100971877	0.91
18	33739911	T	C	18	36159948	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.38237693280086	0.4
18	33739911	T	G	18	36159948	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999983559438489	0.966
18	33739912	T	A	18	36159949	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.973131757067627	0.652
18	33739912	T	C	18	36159949	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00946586177241195	0.188
18	33739912	T	G	18	36159949	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.962773966228793	0.602
18	33739913	T	A	18	36159950	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.861023368099043	0.704
18	33739913	T	C	18	36159950	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00362884718945921	0.074
18	33739913	T	G	18	36159950	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.971026734533907	0.748
18	33739914	A	C	18	36159951	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.45992075648852E-5	0.028
18	33739914	A	G	18	36159951	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.31700916372025E-4	0.016
18	33739914	A	T	18	36159951	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.21298243802815E-5	0.03
18	33739915	T	A	18	36159952	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.996262377149579	0.774
18	33739915	T	C	18	36159952	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.152615744140885	0.296
18	33739915	T	G	18	36159952	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99993097375818	0.958
18	33739916	T	A	18	36159953	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998084644597228	0.92
18	33739916	T	C	18	36159953	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.137086764151041	0.25
18	33739916	T	G	18	36159953	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998565011470815	0.912
18	33739917	C	A	18	36159954	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.00589281868466E-4	0.018
18	33739917	C	G	18	36159954	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.18543039604023E-4	0.008
18	33739917	C	T	18	36159954	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.24111680889084E-5	0.006
18	33739918	T	A	18	36159955	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.960125907629381	0.582
18	33739918	T	C	18	36159955	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00287034040217762	0.032
18	33739918	T	G	18	36159955	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997905993838807	0.792
18	33739919	A	C	18	36159956	y	y	splicing	ELP2(NM_001242875:exon17:c.1826-2A>C;NM_001242876:exon15:c.1616-2A>C;NM_018255:exon16:c.1631-2A>C;NM_001242878:exon14:c.1421-2A>C;NM_001242877:exon15:c.1553-2A>C;NM_001242879:exon13:c.1421-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1631-2A>C;ENST00000351393:exon15:c.1553-2A>C;ENST00000442325:exon17:c.1826-2A>C;ENST00000423854:exon13:c.1421-2A>C;ENST00000539560:exon16:c.1631-2A>C;ENST00000350494:exon15:c.1616-2A>C;ENST00000542824:exon14:c.1421-2A>C;ENST00000540766:exon2:c.74-2A>C)	.	.	0.999960616901561	0.944
18	33739919	A	G	18	36159956	y	y	splicing	ELP2(NM_001242875:exon17:c.1826-2A>G;NM_001242876:exon15:c.1616-2A>G;NM_018255:exon16:c.1631-2A>G;NM_001242878:exon14:c.1421-2A>G;NM_001242877:exon15:c.1553-2A>G;NM_001242879:exon13:c.1421-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1631-2A>G;ENST00000351393:exon15:c.1553-2A>G;ENST00000442325:exon17:c.1826-2A>G;ENST00000423854:exon13:c.1421-2A>G;ENST00000539560:exon16:c.1631-2A>G;ENST00000350494:exon15:c.1616-2A>G;ENST00000542824:exon14:c.1421-2A>G;ENST00000540766:exon2:c.74-2A>G)	.	.	0.999960616901561	0.944
18	33739919	A	T	18	36159956	y	y	splicing	ELP2(NM_001242875:exon17:c.1826-2A>T;NM_001242876:exon15:c.1616-2A>T;NM_018255:exon16:c.1631-2A>T;NM_001242878:exon14:c.1421-2A>T;NM_001242877:exon15:c.1553-2A>T;NM_001242879:exon13:c.1421-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1631-2A>T;ENST00000351393:exon15:c.1553-2A>T;ENST00000442325:exon17:c.1826-2A>T;ENST00000423854:exon13:c.1421-2A>T;ENST00000539560:exon16:c.1631-2A>T;ENST00000350494:exon15:c.1616-2A>T;ENST00000542824:exon14:c.1421-2A>T;ENST00000540766:exon2:c.74-2A>T)	.	.	0.999960616901561	0.918
18	33739920	G	A	18	36159957	y	y	splicing	ELP2(NM_001242875:exon17:c.1826-1G>A;NM_001242876:exon15:c.1616-1G>A;NM_018255:exon16:c.1631-1G>A;NM_001242878:exon14:c.1421-1G>A;NM_001242877:exon15:c.1553-1G>A;NM_001242879:exon13:c.1421-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1631-1G>A;ENST00000351393:exon15:c.1553-1G>A;ENST00000442325:exon17:c.1826-1G>A;ENST00000423854:exon13:c.1421-1G>A;ENST00000539560:exon16:c.1631-1G>A;ENST00000350494:exon15:c.1616-1G>A;ENST00000542824:exon14:c.1421-1G>A;ENST00000540766:exon2:c.74-1G>A)	.	.	0.999949744469354	0.92
18	33739920	G	C	18	36159957	y	y	splicing	ELP2(NM_001242875:exon17:c.1826-1G>C;NM_001242876:exon15:c.1616-1G>C;NM_018255:exon16:c.1631-1G>C;NM_001242878:exon14:c.1421-1G>C;NM_001242877:exon15:c.1553-1G>C;NM_001242879:exon13:c.1421-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1631-1G>C;ENST00000351393:exon15:c.1553-1G>C;ENST00000442325:exon17:c.1826-1G>C;ENST00000423854:exon13:c.1421-1G>C;ENST00000539560:exon16:c.1631-1G>C;ENST00000350494:exon15:c.1616-1G>C;ENST00000542824:exon14:c.1421-1G>C;ENST00000540766:exon2:c.74-1G>C)	.	.	0.999949744469354	0.922
18	33739920	G	T	18	36159957	y	y	splicing	ELP2(NM_001242875:exon17:c.1826-1G>T;NM_001242876:exon15:c.1616-1G>T;NM_018255:exon16:c.1631-1G>T;NM_001242878:exon14:c.1421-1G>T;NM_001242877:exon15:c.1553-1G>T;NM_001242879:exon13:c.1421-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1631-1G>T;ENST00000351393:exon15:c.1553-1G>T;ENST00000442325:exon17:c.1826-1G>T;ENST00000423854:exon13:c.1421-1G>T;ENST00000539560:exon16:c.1631-1G>T;ENST00000350494:exon15:c.1616-1G>T;ENST00000542824:exon14:c.1421-1G>T;ENST00000540766:exon2:c.74-1G>T)	.	.	0.999949744469354	0.92
18	33739921	A	C	18	36159958	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.A1421C:p.E474A;ELP2:NM_001242875:exon17:c.A1826C:p.E609A;ELP2:NM_001242878:exon14:c.A1421C:p.E474A;ELP2:NM_018255:exon16:c.A1631C:p.E544A;ELP2:NM_001242876:exon15:c.A1616C:p.E539A;ELP2:NM_001242877:exon15:c.A1553C:p.E518A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.A74C:p.E25A;ENSG00000134759:ENST00000542824:exon14:c.A1421C:p.E474A;ENSG00000134759:ENST00000351393:exon15:c.A1553C:p.E518A;ENSG00000134759:ENST00000442325:exon17:c.A1826C:p.E609A;ENSG00000134759:ENST00000350494:exon15:c.A1616C:p.E539A;ENSG00000134759:ENST00000423854:exon13:c.A1421C:p.E474A;ENSG00000134759:ENST00000358232:exon16:c.A1631C:p.E544A;ENSG00000134759:ENST00000539560:exon16:c.A1631C:p.E544A;	0.00285712606960288	0.172
18	33739921	A	G	18	36159958	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.A1421G:p.E474G;ELP2:NM_001242875:exon17:c.A1826G:p.E609G;ELP2:NM_001242878:exon14:c.A1421G:p.E474G;ELP2:NM_018255:exon16:c.A1631G:p.E544G;ELP2:NM_001242876:exon15:c.A1616G:p.E539G;ELP2:NM_001242877:exon15:c.A1553G:p.E518G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.A74G:p.E25G;ENSG00000134759:ENST00000542824:exon14:c.A1421G:p.E474G;ENSG00000134759:ENST00000351393:exon15:c.A1553G:p.E518G;ENSG00000134759:ENST00000442325:exon17:c.A1826G:p.E609G;ENSG00000134759:ENST00000350494:exon15:c.A1616G:p.E539G;ENSG00000134759:ENST00000423854:exon13:c.A1421G:p.E474G;ENSG00000134759:ENST00000358232:exon16:c.A1631G:p.E544G;ENSG00000134759:ENST00000539560:exon16:c.A1631G:p.E544G;	3.92766020672491E-5	0.004
18	33739921	A	T	18	36159958	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.A1421T:p.E474V;ELP2:NM_001242875:exon17:c.A1826T:p.E609V;ELP2:NM_001242878:exon14:c.A1421T:p.E474V;ELP2:NM_018255:exon16:c.A1631T:p.E544V;ELP2:NM_001242876:exon15:c.A1616T:p.E539V;ELP2:NM_001242877:exon15:c.A1553T:p.E518V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.A74T:p.E25V;ENSG00000134759:ENST00000542824:exon14:c.A1421T:p.E474V;ENSG00000134759:ENST00000351393:exon15:c.A1553T:p.E518V;ENSG00000134759:ENST00000442325:exon17:c.A1826T:p.E609V;ENSG00000134759:ENST00000350494:exon15:c.A1616T:p.E539V;ENSG00000134759:ENST00000423854:exon13:c.A1421T:p.E474V;ENSG00000134759:ENST00000358232:exon16:c.A1631T:p.E544V;ENSG00000134759:ENST00000539560:exon16:c.A1631T:p.E544V;	0.00207049899800217	0.074
18	33739922	G	A	18	36159959	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon13:c.G1422A:p.E474E;ELP2:NM_001242875:exon17:c.G1827A:p.E609E;ELP2:NM_001242878:exon14:c.G1422A:p.E474E;ELP2:NM_018255:exon16:c.G1632A:p.E544E;ELP2:NM_001242876:exon15:c.G1617A:p.E539E;ELP2:NM_001242877:exon15:c.G1554A:p.E518E;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.G75A:p.E25E;ENSG00000134759:ENST00000542824:exon14:c.G1422A:p.E474E;ENSG00000134759:ENST00000351393:exon15:c.G1554A:p.E518E;ENSG00000134759:ENST00000442325:exon17:c.G1827A:p.E609E;ENSG00000134759:ENST00000350494:exon15:c.G1617A:p.E539E;ENSG00000134759:ENST00000423854:exon13:c.G1422A:p.E474E;ENSG00000134759:ENST00000358232:exon16:c.G1632A:p.E544E;ENSG00000134759:ENST00000539560:exon16:c.G1632A:p.E544E;	1.15092368585461E-4	0.04
18	33739922	G	C	18	36159959	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.G1422C:p.E474D;ELP2:NM_001242875:exon17:c.G1827C:p.E609D;ELP2:NM_001242878:exon14:c.G1422C:p.E474D;ELP2:NM_018255:exon16:c.G1632C:p.E544D;ELP2:NM_001242876:exon15:c.G1617C:p.E539D;ELP2:NM_001242877:exon15:c.G1554C:p.E518D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.G75C:p.E25D;ENSG00000134759:ENST00000542824:exon14:c.G1422C:p.E474D;ENSG00000134759:ENST00000351393:exon15:c.G1554C:p.E518D;ENSG00000134759:ENST00000442325:exon17:c.G1827C:p.E609D;ENSG00000134759:ENST00000350494:exon15:c.G1617C:p.E539D;ENSG00000134759:ENST00000423854:exon13:c.G1422C:p.E474D;ENSG00000134759:ENST00000358232:exon16:c.G1632C:p.E544D;ENSG00000134759:ENST00000539560:exon16:c.G1632C:p.E544D;	1.21986118653611E-4	0.016
18	33739922	G	T	18	36159959	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.G1422T:p.E474D;ELP2:NM_001242875:exon17:c.G1827T:p.E609D;ELP2:NM_001242878:exon14:c.G1422T:p.E474D;ELP2:NM_018255:exon16:c.G1632T:p.E544D;ELP2:NM_001242876:exon15:c.G1617T:p.E539D;ELP2:NM_001242877:exon15:c.G1554T:p.E518D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.G75T:p.E25D;ENSG00000134759:ENST00000542824:exon14:c.G1422T:p.E474D;ENSG00000134759:ENST00000351393:exon15:c.G1554T:p.E518D;ENSG00000134759:ENST00000442325:exon17:c.G1827T:p.E609D;ENSG00000134759:ENST00000350494:exon15:c.G1617T:p.E539D;ENSG00000134759:ENST00000423854:exon13:c.G1422T:p.E474D;ENSG00000134759:ENST00000358232:exon16:c.G1632T:p.E544D;ENSG00000134759:ENST00000539560:exon16:c.G1632T:p.E544D;	5.65418709065846E-5	0.02
18	33739976	A	C	18	36160013	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.A1476C:p.K492N;ELP2:NM_001242875:exon17:c.A1881C:p.K627N;ELP2:NM_001242878:exon14:c.A1476C:p.K492N;ELP2:NM_018255:exon16:c.A1686C:p.K562N;ELP2:NM_001242876:exon15:c.A1671C:p.K557N;ELP2:NM_001242877:exon15:c.A1608C:p.K536N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.A129C:p.K43N;ENSG00000134759:ENST00000542824:exon14:c.A1476C:p.K492N;ENSG00000134759:ENST00000351393:exon15:c.A1608C:p.K536N;ENSG00000134759:ENST00000442325:exon17:c.A1881C:p.K627N;ENSG00000134759:ENST00000350494:exon15:c.A1671C:p.K557N;ENSG00000134759:ENST00000423854:exon13:c.A1476C:p.K492N;ENSG00000134759:ENST00000358232:exon16:c.A1686C:p.K562N;ENSG00000134759:ENST00000539560:exon16:c.A1686C:p.K562N;	0.072557606859581	0.262
18	33739976	A	G	18	36160013	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon13:c.A1476G:p.K492K;ELP2:NM_001242875:exon17:c.A1881G:p.K627K;ELP2:NM_001242878:exon14:c.A1476G:p.K492K;ELP2:NM_018255:exon16:c.A1686G:p.K562K;ELP2:NM_001242876:exon15:c.A1671G:p.K557K;ELP2:NM_001242877:exon15:c.A1608G:p.K536K;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.A129G:p.K43K;ENSG00000134759:ENST00000542824:exon14:c.A1476G:p.K492K;ENSG00000134759:ENST00000351393:exon15:c.A1608G:p.K536K;ENSG00000134759:ENST00000442325:exon17:c.A1881G:p.K627K;ENSG00000134759:ENST00000350494:exon15:c.A1671G:p.K557K;ENSG00000134759:ENST00000423854:exon13:c.A1476G:p.K492K;ENSG00000134759:ENST00000358232:exon16:c.A1686G:p.K562K;ENSG00000134759:ENST00000539560:exon16:c.A1686G:p.K562K;	0.00477733274871964	0.036
18	33739976	A	T	18	36160013	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.A1476T:p.K492N;ELP2:NM_001242875:exon17:c.A1881T:p.K627N;ELP2:NM_001242878:exon14:c.A1476T:p.K492N;ELP2:NM_018255:exon16:c.A1686T:p.K562N;ELP2:NM_001242876:exon15:c.A1671T:p.K557N;ELP2:NM_001242877:exon15:c.A1608T:p.K536N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.A129T:p.K43N;ENSG00000134759:ENST00000542824:exon14:c.A1476T:p.K492N;ENSG00000134759:ENST00000351393:exon15:c.A1608T:p.K536N;ENSG00000134759:ENST00000442325:exon17:c.A1881T:p.K627N;ENSG00000134759:ENST00000350494:exon15:c.A1671T:p.K557N;ENSG00000134759:ENST00000423854:exon13:c.A1476T:p.K492N;ENSG00000134759:ENST00000358232:exon16:c.A1686T:p.K562N;ENSG00000134759:ENST00000539560:exon16:c.A1686T:p.K562N;	0.139869537531015	0.318
18	33739977	C	A	18	36160014	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.C1477A:p.L493I;ELP2:NM_001242875:exon17:c.C1882A:p.L628I;ELP2:NM_001242878:exon14:c.C1477A:p.L493I;ELP2:NM_018255:exon16:c.C1687A:p.L563I;ELP2:NM_001242876:exon15:c.C1672A:p.L558I;ELP2:NM_001242877:exon15:c.C1609A:p.L537I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.C130A:p.L44I;ENSG00000134759:ENST00000542824:exon14:c.C1477A:p.L493I;ENSG00000134759:ENST00000351393:exon15:c.C1609A:p.L537I;ENSG00000134759:ENST00000442325:exon17:c.C1882A:p.L628I;ENSG00000134759:ENST00000350494:exon15:c.C1672A:p.L558I;ENSG00000134759:ENST00000423854:exon13:c.C1477A:p.L493I;ENSG00000134759:ENST00000358232:exon16:c.C1687A:p.L563I;ENSG00000134759:ENST00000539560:exon16:c.C1687A:p.L563I;	0.0596847615403707	0.38
18	33739977	C	G	18	36160014	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.C1477G:p.L493V;ELP2:NM_001242875:exon17:c.C1882G:p.L628V;ELP2:NM_001242878:exon14:c.C1477G:p.L493V;ELP2:NM_018255:exon16:c.C1687G:p.L563V;ELP2:NM_001242876:exon15:c.C1672G:p.L558V;ELP2:NM_001242877:exon15:c.C1609G:p.L537V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.C130G:p.L44V;ENSG00000134759:ENST00000542824:exon14:c.C1477G:p.L493V;ENSG00000134759:ENST00000351393:exon15:c.C1609G:p.L537V;ENSG00000134759:ENST00000442325:exon17:c.C1882G:p.L628V;ENSG00000134759:ENST00000350494:exon15:c.C1672G:p.L558V;ENSG00000134759:ENST00000423854:exon13:c.C1477G:p.L493V;ENSG00000134759:ENST00000358232:exon16:c.C1687G:p.L563V;ENSG00000134759:ENST00000539560:exon16:c.C1687G:p.L563V;	0.146475399350354	0.266
18	33739977	C	T	18	36160014	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon13:c.C1477T:p.L493L;ELP2:NM_001242875:exon17:c.C1882T:p.L628L;ELP2:NM_001242878:exon14:c.C1477T:p.L493L;ELP2:NM_018255:exon16:c.C1687T:p.L563L;ELP2:NM_001242876:exon15:c.C1672T:p.L558L;ELP2:NM_001242877:exon15:c.C1609T:p.L537L;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.C130T:p.L44L;ENSG00000134759:ENST00000542824:exon14:c.C1477T:p.L493L;ENSG00000134759:ENST00000351393:exon15:c.C1609T:p.L537L;ENSG00000134759:ENST00000442325:exon17:c.C1882T:p.L628L;ENSG00000134759:ENST00000350494:exon15:c.C1672T:p.L558L;ENSG00000134759:ENST00000423854:exon13:c.C1477T:p.L493L;ENSG00000134759:ENST00000358232:exon16:c.C1687T:p.L563L;ENSG00000134759:ENST00000539560:exon16:c.C1687T:p.L563L;	0.0031510109619096	0.026
18	33739978	T	A	18	36160015	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.T1478A:p.L493Q;ELP2:NM_001242875:exon17:c.T1883A:p.L628Q;ELP2:NM_001242878:exon14:c.T1478A:p.L493Q;ELP2:NM_018255:exon16:c.T1688A:p.L563Q;ELP2:NM_001242876:exon15:c.T1673A:p.L558Q;ELP2:NM_001242877:exon15:c.T1610A:p.L537Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.T131A:p.L44Q;ENSG00000134759:ENST00000542824:exon14:c.T1478A:p.L493Q;ENSG00000134759:ENST00000351393:exon15:c.T1610A:p.L537Q;ENSG00000134759:ENST00000442325:exon17:c.T1883A:p.L628Q;ENSG00000134759:ENST00000350494:exon15:c.T1673A:p.L558Q;ENSG00000134759:ENST00000423854:exon13:c.T1478A:p.L493Q;ENSG00000134759:ENST00000358232:exon16:c.T1688A:p.L563Q;ENSG00000134759:ENST00000539560:exon16:c.T1688A:p.L563Q;	0.877706567372901	0.76
18	33739978	T	C	18	36160015	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.T1478C:p.L493P;ELP2:NM_001242875:exon17:c.T1883C:p.L628P;ELP2:NM_001242878:exon14:c.T1478C:p.L493P;ELP2:NM_018255:exon16:c.T1688C:p.L563P;ELP2:NM_001242876:exon15:c.T1673C:p.L558P;ELP2:NM_001242877:exon15:c.T1610C:p.L537P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.T131C:p.L44P;ENSG00000134759:ENST00000542824:exon14:c.T1478C:p.L493P;ENSG00000134759:ENST00000351393:exon15:c.T1610C:p.L537P;ENSG00000134759:ENST00000442325:exon17:c.T1883C:p.L628P;ENSG00000134759:ENST00000350494:exon15:c.T1673C:p.L558P;ENSG00000134759:ENST00000423854:exon13:c.T1478C:p.L493P;ENSG00000134759:ENST00000358232:exon16:c.T1688C:p.L563P;ENSG00000134759:ENST00000539560:exon16:c.T1688C:p.L563P;	0.970201859161362	0.828
18	33739978	T	G	18	36160015	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon13:c.T1478G:p.L493R;ELP2:NM_001242875:exon17:c.T1883G:p.L628R;ELP2:NM_001242878:exon14:c.T1478G:p.L493R;ELP2:NM_018255:exon16:c.T1688G:p.L563R;ELP2:NM_001242876:exon15:c.T1673G:p.L558R;ELP2:NM_001242877:exon15:c.T1610G:p.L537R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon2:c.T131G:p.L44R;ENSG00000134759:ENST00000542824:exon14:c.T1478G:p.L493R;ENSG00000134759:ENST00000351393:exon15:c.T1610G:p.L537R;ENSG00000134759:ENST00000442325:exon17:c.T1883G:p.L628R;ENSG00000134759:ENST00000350494:exon15:c.T1673G:p.L558R;ENSG00000134759:ENST00000423854:exon13:c.T1478G:p.L493R;ENSG00000134759:ENST00000358232:exon16:c.T1688G:p.L563R;ENSG00000134759:ENST00000539560:exon16:c.T1688G:p.L563R;	0.790755850053793	0.348
18	33739979	G	A	18	36160016	y	y	splicing	ELP2(NM_001242875:exon17:c.1883+1G>A;NM_001242876:exon15:c.1673+1G>A;NM_018255:exon16:c.1688+1G>A;NM_001242878:exon14:c.1478+1G>A;NM_001242877:exon15:c.1610+1G>A;NM_001242879:exon13:c.1478+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1688+1G>A;ENST00000351393:exon15:c.1610+1G>A;ENST00000442325:exon17:c.1883+1G>A;ENST00000423854:exon13:c.1478+1G>A;ENST00000539560:exon16:c.1688+1G>A;ENST00000350494:exon15:c.1673+1G>A;ENST00000542824:exon14:c.1478+1G>A;ENST00000540766:exon2:c.131+1G>A)	.	.	0.999990361384395	0.928
18	33739979	G	C	18	36160016	y	y	splicing	ELP2(NM_001242875:exon17:c.1883+1G>C;NM_001242876:exon15:c.1673+1G>C;NM_018255:exon16:c.1688+1G>C;NM_001242878:exon14:c.1478+1G>C;NM_001242877:exon15:c.1610+1G>C;NM_001242879:exon13:c.1478+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1688+1G>C;ENST00000351393:exon15:c.1610+1G>C;ENST00000442325:exon17:c.1883+1G>C;ENST00000423854:exon13:c.1478+1G>C;ENST00000539560:exon16:c.1688+1G>C;ENST00000350494:exon15:c.1673+1G>C;ENST00000542824:exon14:c.1478+1G>C;ENST00000540766:exon2:c.131+1G>C)	.	.	0.999990361384395	0.928
18	33739979	G	T	18	36160016	y	y	splicing	ELP2(NM_001242875:exon17:c.1883+1G>T;NM_001242876:exon15:c.1673+1G>T;NM_018255:exon16:c.1688+1G>T;NM_001242878:exon14:c.1478+1G>T;NM_001242877:exon15:c.1610+1G>T;NM_001242879:exon13:c.1478+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1688+1G>T;ENST00000351393:exon15:c.1610+1G>T;ENST00000442325:exon17:c.1883+1G>T;ENST00000423854:exon13:c.1478+1G>T;ENST00000539560:exon16:c.1688+1G>T;ENST00000350494:exon15:c.1673+1G>T;ENST00000542824:exon14:c.1478+1G>T;ENST00000540766:exon2:c.131+1G>T)	.	.	0.999990361384395	0.928
18	33739980	T	A	18	36160017	y	y	splicing	ELP2(NM_001242875:exon17:c.1883+2T>A;NM_001242876:exon15:c.1673+2T>A;NM_018255:exon16:c.1688+2T>A;NM_001242878:exon14:c.1478+2T>A;NM_001242877:exon15:c.1610+2T>A;NM_001242879:exon13:c.1478+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1688+2T>A;ENST00000351393:exon15:c.1610+2T>A;ENST00000442325:exon17:c.1883+2T>A;ENST00000423854:exon13:c.1478+2T>A;ENST00000539560:exon16:c.1688+2T>A;ENST00000350494:exon15:c.1673+2T>A;ENST00000542824:exon14:c.1478+2T>A;ENST00000540766:exon2:c.131+2T>A)	.	.	0.999992446697775	0.932
18	33739980	T	C	18	36160017	y	y	splicing	ELP2(NM_001242875:exon17:c.1883+2T>C;NM_001242876:exon15:c.1673+2T>C;NM_018255:exon16:c.1688+2T>C;NM_001242878:exon14:c.1478+2T>C;NM_001242877:exon15:c.1610+2T>C;NM_001242879:exon13:c.1478+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1688+2T>C;ENST00000351393:exon15:c.1610+2T>C;ENST00000442325:exon17:c.1883+2T>C;ENST00000423854:exon13:c.1478+2T>C;ENST00000539560:exon16:c.1688+2T>C;ENST00000350494:exon15:c.1673+2T>C;ENST00000542824:exon14:c.1478+2T>C;ENST00000540766:exon2:c.131+2T>C)	.	.	0.993808943985639	0.652
18	33739980	T	G	18	36160017	y	y	splicing	ELP2(NM_001242875:exon17:c.1883+2T>G;NM_001242876:exon15:c.1673+2T>G;NM_018255:exon16:c.1688+2T>G;NM_001242878:exon14:c.1478+2T>G;NM_001242877:exon15:c.1610+2T>G;NM_001242879:exon13:c.1478+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon16:c.1688+2T>G;ENST00000351393:exon15:c.1610+2T>G;ENST00000442325:exon17:c.1883+2T>G;ENST00000423854:exon13:c.1478+2T>G;ENST00000539560:exon16:c.1688+2T>G;ENST00000350494:exon15:c.1673+2T>G;ENST00000542824:exon14:c.1478+2T>G;ENST00000540766:exon2:c.131+2T>G)	.	.	0.999992446697775	0.932
18	33739981	A	C	18	36160018	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999775915592648	0.878
18	33739981	A	G	18	36160018	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00576015418658167	0.178
18	33739981	A	T	18	36160018	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999794339360863	0.892
18	33739982	A	C	18	36160019	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999693399666899	0.894
18	33739982	A	G	18	36160019	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999654016666517	0.976
18	33739982	A	T	18	36160019	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999693585064793	0.906
18	33739983	G	A	18	36160020	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999985013166878	0.992
18	33739983	G	C	18	36160020	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999959888040975	0.962
18	33739983	G	T	18	36160020	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999985013166878	0.982
18	33739984	T	A	18	36160021	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997954190449256	0.698
18	33739984	T	C	18	36160021	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.993884016806943	0.752
18	33739984	T	G	18	36160021	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.994278943785715	0.778
18	33739985	T	A	18	36160022	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00151094603602739	0.048
18	33739985	T	C	18	36160022	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00265389022169568	0.016
18	33739985	T	G	18	36160022	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00146117706022665	0.014
18	33739986	A	C	18	36160023	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00143778305090262	0.004
18	33739986	A	G	18	36160023	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00114638423471564	0.004
18	33739986	A	T	18	36160023	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00133926090437326	0.0
18	33740883	T	A	18	36160920	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0239888616610931	0.374
18	33740883	T	C	18	36160920	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.37079166058456E-4	0.016
18	33740883	T	G	18	36160920	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0126872524444722	0.314
18	33740884	T	A	18	36160921	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.988622505769336	0.83
18	33740884	T	C	18	36160921	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.183474934128266	0.294
18	33740884	T	G	18	36160921	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.932174742499086	0.73
18	33740885	T	A	18	36160922	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.994055825060892	0.778
18	33740885	T	C	18	36160922	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0344922673099165	0.296
18	33740885	T	G	18	36160922	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.987453587734621	0.822
18	33740886	A	C	18	36160923	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.25279927330413E-5	0.0
18	33740886	A	G	18	36160923	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.3384582341727E-5	0.004
18	33740886	A	T	18	36160923	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.45454373326204E-5	0.0
18	33740887	A	C	18	36160924	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.69523942706158E-5	0.0
18	33740887	A	G	18	36160924	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.992166765417945	0.98
18	33740887	A	T	18	36160924	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.69523942706158E-5	0.0
18	33740888	A	C	18	36160925	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.70211433813828E-5	0.0
18	33740888	A	G	18	36160925	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99930825413428	0.964
18	33740888	A	T	18	36160925	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.06159168850585E-4	0.002
18	33740889	T	A	18	36160926	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.77565488335624	0.486
18	33740889	T	C	18	36160926	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00210498080360171	0.084
18	33740889	T	G	18	36160926	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999790651268454	0.958
18	33740890	T	A	18	36160927	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.948095020775187	0.628
18	33740890	T	C	18	36160927	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00971225974101366	0.116
18	33740890	T	G	18	36160927	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.776302019711844	0.542
18	33740891	T	A	18	36160928	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.97959129762856E-4	0.024
18	33740891	T	C	18	36160928	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.243283023099E-4	0.004
18	33740891	T	G	18	36160928	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.09278446277498E-4	0.0
18	33740892	T	A	18	36160929	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.259753311554787	0.294
18	33740892	T	C	18	36160929	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.27626630832323E-5	0.006
18	33740892	T	G	18	36160929	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995015758166254	0.76
18	33740893	A	C	18	36160930	y	y	splicing	ELP2(NM_001242875:exon18:c.1884-2A>C;NM_001242876:exon16:c.1674-2A>C;NM_018255:exon17:c.1689-2A>C;NM_001242878:exon15:c.1479-2A>C;NM_001242877:exon16:c.1611-2A>C;NM_001242879:exon14:c.1479-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1689-2A>C;ENST00000351393:exon16:c.1611-2A>C;ENST00000442325:exon18:c.1884-2A>C;ENST00000423854:exon14:c.1479-2A>C;ENST00000539560:exon17:c.1689-2A>C;ENST00000350494:exon16:c.1674-2A>C;ENST00000542824:exon15:c.1479-2A>C;ENST00000540799:exon4:c.289-2A>C)	.	.	0.999988247793601	0.93
18	33740893	A	G	18	36160930	y	y	splicing	ELP2(NM_001242875:exon18:c.1884-2A>G;NM_001242876:exon16:c.1674-2A>G;NM_018255:exon17:c.1689-2A>G;NM_001242878:exon15:c.1479-2A>G;NM_001242877:exon16:c.1611-2A>G;NM_001242879:exon14:c.1479-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1689-2A>G;ENST00000351393:exon16:c.1611-2A>G;ENST00000442325:exon18:c.1884-2A>G;ENST00000423854:exon14:c.1479-2A>G;ENST00000539560:exon17:c.1689-2A>G;ENST00000350494:exon16:c.1674-2A>G;ENST00000542824:exon15:c.1479-2A>G;ENST00000540799:exon4:c.289-2A>G)	.	.	0.999988247793601	0.93
18	33740893	A	T	18	36160930	y	y	splicing	ELP2(NM_001242875:exon18:c.1884-2A>T;NM_001242876:exon16:c.1674-2A>T;NM_018255:exon17:c.1689-2A>T;NM_001242878:exon15:c.1479-2A>T;NM_001242877:exon16:c.1611-2A>T;NM_001242879:exon14:c.1479-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1689-2A>T;ENST00000351393:exon16:c.1611-2A>T;ENST00000442325:exon18:c.1884-2A>T;ENST00000423854:exon14:c.1479-2A>T;ENST00000539560:exon17:c.1689-2A>T;ENST00000350494:exon16:c.1674-2A>T;ENST00000542824:exon15:c.1479-2A>T;ENST00000540799:exon4:c.289-2A>T)	.	.	0.999988247793601	0.93
18	33740894	G	A	18	36160931	y	y	splicing	ELP2(NM_001242875:exon18:c.1884-1G>A;NM_001242876:exon16:c.1674-1G>A;NM_018255:exon17:c.1689-1G>A;NM_001242878:exon15:c.1479-1G>A;NM_001242877:exon16:c.1611-1G>A;NM_001242879:exon14:c.1479-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1689-1G>A;ENST00000351393:exon16:c.1611-1G>A;ENST00000442325:exon18:c.1884-1G>A;ENST00000423854:exon14:c.1479-1G>A;ENST00000539560:exon17:c.1689-1G>A;ENST00000350494:exon16:c.1674-1G>A;ENST00000542824:exon15:c.1479-1G>A;ENST00000540799:exon4:c.289-1G>A)	.	.	0.999990361384395	0.936
18	33740894	G	C	18	36160931	y	y	splicing	ELP2(NM_001242875:exon18:c.1884-1G>C;NM_001242876:exon16:c.1674-1G>C;NM_018255:exon17:c.1689-1G>C;NM_001242878:exon15:c.1479-1G>C;NM_001242877:exon16:c.1611-1G>C;NM_001242879:exon14:c.1479-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1689-1G>C;ENST00000351393:exon16:c.1611-1G>C;ENST00000442325:exon18:c.1884-1G>C;ENST00000423854:exon14:c.1479-1G>C;ENST00000539560:exon17:c.1689-1G>C;ENST00000350494:exon16:c.1674-1G>C;ENST00000542824:exon15:c.1479-1G>C;ENST00000540799:exon4:c.289-1G>C)	.	.	0.999990361384395	0.938
18	33740894	G	T	18	36160931	y	y	splicing	ELP2(NM_001242875:exon18:c.1884-1G>T;NM_001242876:exon16:c.1674-1G>T;NM_018255:exon17:c.1689-1G>T;NM_001242878:exon15:c.1479-1G>T;NM_001242877:exon16:c.1611-1G>T;NM_001242879:exon14:c.1479-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1689-1G>T;ENST00000351393:exon16:c.1611-1G>T;ENST00000442325:exon18:c.1884-1G>T;ENST00000423854:exon14:c.1479-1G>T;ENST00000539560:exon17:c.1689-1G>T;ENST00000350494:exon16:c.1674-1G>T;ENST00000542824:exon15:c.1479-1G>T;ENST00000540799:exon4:c.289-1G>T)	.	.	0.999990361384395	0.934
18	33740895	A	C	18	36160932	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon14:c.A1479C:p.L493L;ELP2:NM_001242875:exon18:c.A1884C:p.L628L;ELP2:NM_001242878:exon15:c.A1479C:p.L493L;ELP2:NM_018255:exon17:c.A1689C:p.L563L;ELP2:NM_001242876:exon16:c.A1674C:p.L558L;ELP2:NM_001242877:exon16:c.A1611C:p.L537L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540799:exon4:c.A289C:p.I97L;	3.18082161557275E-4	0.016
18	33740895	A	G	18	36160932	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon14:c.A1479G:p.L493L;ELP2:NM_001242875:exon18:c.A1884G:p.L628L;ELP2:NM_001242878:exon15:c.A1479G:p.L493L;ELP2:NM_018255:exon17:c.A1689G:p.L563L;ELP2:NM_001242876:exon16:c.A1674G:p.L558L;ELP2:NM_001242877:exon16:c.A1611G:p.L537L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540799:exon4:c.A289G:p.I97V;	1.89326527092015E-5	0.0
18	33740895	A	T	18	36160932	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon14:c.A1479T:p.L493L;ELP2:NM_001242875:exon18:c.A1884T:p.L628L;ELP2:NM_001242878:exon15:c.A1479T:p.L493L;ELP2:NM_018255:exon17:c.A1689T:p.L563L;ELP2:NM_001242876:exon16:c.A1674T:p.L558L;ELP2:NM_001242877:exon16:c.A1611T:p.L537L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540799:exon4:c.A289T:p.I97L;	4.70536268869775E-4	0.016
18	33740896	T	A	18	36160933	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.T1480A:p.Y494N;ELP2:NM_001242875:exon18:c.T1885A:p.Y629N;ELP2:NM_001242878:exon15:c.T1480A:p.Y494N;ELP2:NM_018255:exon17:c.T1690A:p.Y564N;ELP2:NM_001242876:exon16:c.T1675A:p.Y559N;ELP2:NM_001242877:exon16:c.T1612A:p.Y538N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540799:exon4:c.T290A:p.I97K;ENSG00000134759:ENST00000542824:exon15:c.T1480A:p.Y494N;ENSG00000134759:ENST00000351393:exon16:c.T1612A:p.Y538N;ENSG00000134759:ENST00000442325:exon18:c.T1885A:p.Y629N;ENSG00000134759:ENST00000350494:exon16:c.T1675A:p.Y559N;ENSG00000134759:ENST00000423854:exon14:c.T1480A:p.Y494N;ENSG00000134759:ENST00000358232:exon17:c.T1690A:p.Y564N;ENSG00000134759:ENST00000539560:exon17:c.T1690A:p.Y564N;	0.357883613212021	0.478
18	33740896	T	C	18	36160933	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.T1480C:p.Y494H;ELP2:NM_001242875:exon18:c.T1885C:p.Y629H;ELP2:NM_001242878:exon15:c.T1480C:p.Y494H;ELP2:NM_018255:exon17:c.T1690C:p.Y564H;ELP2:NM_001242876:exon16:c.T1675C:p.Y559H;ELP2:NM_001242877:exon16:c.T1612C:p.Y538H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540799:exon4:c.T290C:p.I97T;ENSG00000134759:ENST00000542824:exon15:c.T1480C:p.Y494H;ENSG00000134759:ENST00000351393:exon16:c.T1612C:p.Y538H;ENSG00000134759:ENST00000442325:exon18:c.T1885C:p.Y629H;ENSG00000134759:ENST00000350494:exon16:c.T1675C:p.Y559H;ENSG00000134759:ENST00000423854:exon14:c.T1480C:p.Y494H;ENSG00000134759:ENST00000358232:exon17:c.T1690C:p.Y564H;ENSG00000134759:ENST00000539560:exon17:c.T1690C:p.Y564H;	0.464119877129944	0.544
18	33740896	T	G	18	36160933	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.T1480G:p.Y494D;ELP2:NM_001242875:exon18:c.T1885G:p.Y629D;ELP2:NM_001242878:exon15:c.T1480G:p.Y494D;ELP2:NM_018255:exon17:c.T1690G:p.Y564D;ELP2:NM_001242876:exon16:c.T1675G:p.Y559D;ELP2:NM_001242877:exon16:c.T1612G:p.Y538D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540799:exon4:c.T290G:p.I97R;ENSG00000134759:ENST00000542824:exon15:c.T1480G:p.Y494D;ENSG00000134759:ENST00000351393:exon16:c.T1612G:p.Y538D;ENSG00000134759:ENST00000442325:exon18:c.T1885G:p.Y629D;ENSG00000134759:ENST00000350494:exon16:c.T1675G:p.Y559D;ENSG00000134759:ENST00000423854:exon14:c.T1480G:p.Y494D;ENSG00000134759:ENST00000358232:exon17:c.T1690G:p.Y564D;ENSG00000134759:ENST00000539560:exon17:c.T1690G:p.Y564D;	0.493858576847803	0.496
18	33740965	A	C	18	36161002	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.A1549C:p.K517Q;ELP2:NM_001242875:exon18:c.A1954C:p.K652Q;ELP2:NM_001242878:exon15:c.A1549C:p.K517Q;ELP2:NM_018255:exon17:c.A1759C:p.K587Q;ELP2:NM_001242876:exon16:c.A1744C:p.K582Q;ELP2:NM_001242877:exon16:c.A1681C:p.K561Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon15:c.A1549C:p.K517Q;ENSG00000134759:ENST00000351393:exon16:c.A1681C:p.K561Q;ENSG00000134759:ENST00000442325:exon18:c.A1954C:p.K652Q;ENSG00000134759:ENST00000350494:exon16:c.A1744C:p.K582Q;ENSG00000134759:ENST00000423854:exon14:c.A1549C:p.K517Q;ENSG00000134759:ENST00000358232:exon17:c.A1759C:p.K587Q;ENSG00000134759:ENST00000539560:exon17:c.A1759C:p.K587Q;	0.803453957979987	0.694
18	33740965	A	G	18	36161002	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.A1549G:p.K517E;ELP2:NM_001242875:exon18:c.A1954G:p.K652E;ELP2:NM_001242878:exon15:c.A1549G:p.K517E;ELP2:NM_018255:exon17:c.A1759G:p.K587E;ELP2:NM_001242876:exon16:c.A1744G:p.K582E;ELP2:NM_001242877:exon16:c.A1681G:p.K561E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon15:c.A1549G:p.K517E;ENSG00000134759:ENST00000351393:exon16:c.A1681G:p.K561E;ENSG00000134759:ENST00000442325:exon18:c.A1954G:p.K652E;ENSG00000134759:ENST00000350494:exon16:c.A1744G:p.K582E;ENSG00000134759:ENST00000423854:exon14:c.A1549G:p.K517E;ENSG00000134759:ENST00000358232:exon17:c.A1759G:p.K587E;ENSG00000134759:ENST00000539560:exon17:c.A1759G:p.K587E;	0.812855747261949	0.496
18	33740965	A	T	18	36161002	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon14:c.A1549T:p.K517X;ELP2:NM_001242875:exon18:c.A1954T:p.K652X;ELP2:NM_001242878:exon15:c.A1549T:p.K517X;ELP2:NM_018255:exon17:c.A1759T:p.K587X;ELP2:NM_001242876:exon16:c.A1744T:p.K582X;ELP2:NM_001242877:exon16:c.A1681T:p.K561X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon15:c.A1549T:p.K517X;ENSG00000134759:ENST00000351393:exon16:c.A1681T:p.K561X;ENSG00000134759:ENST00000442325:exon18:c.A1954T:p.K652X;ENSG00000134759:ENST00000350494:exon16:c.A1744T:p.K582X;ENSG00000134759:ENST00000423854:exon14:c.A1549T:p.K517X;ENSG00000134759:ENST00000358232:exon17:c.A1759T:p.K587X;ENSG00000134759:ENST00000539560:exon17:c.A1759T:p.K587X;	0.996742461225895	0.784
18	33740966	A	C	18	36161003	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.A1550C:p.K517T;ELP2:NM_001242875:exon18:c.A1955C:p.K652T;ELP2:NM_001242878:exon15:c.A1550C:p.K517T;ELP2:NM_018255:exon17:c.A1760C:p.K587T;ELP2:NM_001242876:exon16:c.A1745C:p.K582T;ELP2:NM_001242877:exon16:c.A1682C:p.K561T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon15:c.A1550C:p.K517T;ENSG00000134759:ENST00000351393:exon16:c.A1682C:p.K561T;ENSG00000134759:ENST00000442325:exon18:c.A1955C:p.K652T;ENSG00000134759:ENST00000350494:exon16:c.A1745C:p.K582T;ENSG00000134759:ENST00000423854:exon14:c.A1550C:p.K517T;ENSG00000134759:ENST00000358232:exon17:c.A1760C:p.K587T;ENSG00000134759:ENST00000539560:exon17:c.A1760C:p.K587T;	0.999841288445232	0.952
18	33740966	A	G	18	36161003	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.A1550G:p.K517R;ELP2:NM_001242875:exon18:c.A1955G:p.K652R;ELP2:NM_001242878:exon15:c.A1550G:p.K517R;ELP2:NM_018255:exon17:c.A1760G:p.K587R;ELP2:NM_001242876:exon16:c.A1745G:p.K582R;ELP2:NM_001242877:exon16:c.A1682G:p.K561R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon15:c.A1550G:p.K517R;ENSG00000134759:ENST00000351393:exon16:c.A1682G:p.K561R;ENSG00000134759:ENST00000442325:exon18:c.A1955G:p.K652R;ENSG00000134759:ENST00000350494:exon16:c.A1745G:p.K582R;ENSG00000134759:ENST00000423854:exon14:c.A1550G:p.K517R;ENSG00000134759:ENST00000358232:exon17:c.A1760G:p.K587R;ENSG00000134759:ENST00000539560:exon17:c.A1760G:p.K587R;	0.999950958515785	0.996
18	33740966	A	T	18	36161003	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.A1550T:p.K517M;ELP2:NM_001242875:exon18:c.A1955T:p.K652M;ELP2:NM_001242878:exon15:c.A1550T:p.K517M;ELP2:NM_018255:exon17:c.A1760T:p.K587M;ELP2:NM_001242876:exon16:c.A1745T:p.K582M;ELP2:NM_001242877:exon16:c.A1682T:p.K561M;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon15:c.A1550T:p.K517M;ENSG00000134759:ENST00000351393:exon16:c.A1682T:p.K561M;ENSG00000134759:ENST00000442325:exon18:c.A1955T:p.K652M;ENSG00000134759:ENST00000350494:exon16:c.A1745T:p.K582M;ENSG00000134759:ENST00000423854:exon14:c.A1550T:p.K517M;ENSG00000134759:ENST00000358232:exon17:c.A1760T:p.K587M;ENSG00000134759:ENST00000539560:exon17:c.A1760T:p.K587M;	0.99994848182646	0.996
18	33740967	G	A	18	36161004	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon14:c.G1551A:p.K517K;ELP2:NM_001242875:exon18:c.G1956A:p.K652K;ELP2:NM_001242878:exon15:c.G1551A:p.K517K;ELP2:NM_018255:exon17:c.G1761A:p.K587K;ELP2:NM_001242876:exon16:c.G1746A:p.K582K;ELP2:NM_001242877:exon16:c.G1683A:p.K561K;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon15:c.G1551A:p.K517K;ENSG00000134759:ENST00000351393:exon16:c.G1683A:p.K561K;ENSG00000134759:ENST00000442325:exon18:c.G1956A:p.K652K;ENSG00000134759:ENST00000350494:exon16:c.G1746A:p.K582K;ENSG00000134759:ENST00000423854:exon14:c.G1551A:p.K517K;ENSG00000134759:ENST00000358232:exon17:c.G1761A:p.K587K;ENSG00000134759:ENST00000539560:exon17:c.G1761A:p.K587K;	0.999885019364525	0.996
18	33740967	G	C	18	36161004	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.G1551C:p.K517N;ELP2:NM_001242875:exon18:c.G1956C:p.K652N;ELP2:NM_001242878:exon15:c.G1551C:p.K517N;ELP2:NM_018255:exon17:c.G1761C:p.K587N;ELP2:NM_001242876:exon16:c.G1746C:p.K582N;ELP2:NM_001242877:exon16:c.G1683C:p.K561N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon15:c.G1551C:p.K517N;ENSG00000134759:ENST00000351393:exon16:c.G1683C:p.K561N;ENSG00000134759:ENST00000442325:exon18:c.G1956C:p.K652N;ENSG00000134759:ENST00000350494:exon16:c.G1746C:p.K582N;ENSG00000134759:ENST00000423854:exon14:c.G1551C:p.K517N;ENSG00000134759:ENST00000358232:exon17:c.G1761C:p.K587N;ENSG00000134759:ENST00000539560:exon17:c.G1761C:p.K587N;	0.999996852309056	0.99
18	33740967	G	T	18	36161004	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon14:c.G1551T:p.K517N;ELP2:NM_001242875:exon18:c.G1956T:p.K652N;ELP2:NM_001242878:exon15:c.G1551T:p.K517N;ELP2:NM_018255:exon17:c.G1761T:p.K587N;ELP2:NM_001242876:exon16:c.G1746T:p.K582N;ELP2:NM_001242877:exon16:c.G1683T:p.K561N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon15:c.G1551T:p.K517N;ENSG00000134759:ENST00000351393:exon16:c.G1683T:p.K561N;ENSG00000134759:ENST00000442325:exon18:c.G1956T:p.K652N;ENSG00000134759:ENST00000350494:exon16:c.G1746T:p.K582N;ENSG00000134759:ENST00000423854:exon14:c.G1551T:p.K517N;ENSG00000134759:ENST00000358232:exon17:c.G1761T:p.K587N;ENSG00000134759:ENST00000539560:exon17:c.G1761T:p.K587N;	0.999985847373154	0.998
18	33740968	G	A	18	36161005	y	y	splicing	ELP2(NM_001242875:exon18:c.1956+1G>A;NM_001242876:exon16:c.1746+1G>A;NM_018255:exon17:c.1761+1G>A;NM_001242878:exon15:c.1551+1G>A;NM_001242877:exon16:c.1683+1G>A;NM_001242879:exon14:c.1551+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1761+1G>A;ENST00000351393:exon16:c.1683+1G>A;ENST00000442325:exon18:c.1956+1G>A;ENST00000423854:exon14:c.1551+1G>A;ENST00000539560:exon17:c.1761+1G>A;ENST00000350494:exon16:c.1746+1G>A;ENST00000542824:exon15:c.1551+1G>A;ENST00000540799:exon4:c.361+1G>A)	.	.	0.999990361384395	0.938
18	33740968	G	C	18	36161005	y	y	splicing	ELP2(NM_001242875:exon18:c.1956+1G>C;NM_001242876:exon16:c.1746+1G>C;NM_018255:exon17:c.1761+1G>C;NM_001242878:exon15:c.1551+1G>C;NM_001242877:exon16:c.1683+1G>C;NM_001242879:exon14:c.1551+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1761+1G>C;ENST00000351393:exon16:c.1683+1G>C;ENST00000442325:exon18:c.1956+1G>C;ENST00000423854:exon14:c.1551+1G>C;ENST00000539560:exon17:c.1761+1G>C;ENST00000350494:exon16:c.1746+1G>C;ENST00000542824:exon15:c.1551+1G>C;ENST00000540799:exon4:c.361+1G>C)	.	.	0.999990361384395	0.938
18	33740968	G	T	18	36161005	y	y	splicing	ELP2(NM_001242875:exon18:c.1956+1G>T;NM_001242876:exon16:c.1746+1G>T;NM_018255:exon17:c.1761+1G>T;NM_001242878:exon15:c.1551+1G>T;NM_001242877:exon16:c.1683+1G>T;NM_001242879:exon14:c.1551+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1761+1G>T;ENST00000351393:exon16:c.1683+1G>T;ENST00000442325:exon18:c.1956+1G>T;ENST00000423854:exon14:c.1551+1G>T;ENST00000539560:exon17:c.1761+1G>T;ENST00000350494:exon16:c.1746+1G>T;ENST00000542824:exon15:c.1551+1G>T;ENST00000540799:exon4:c.361+1G>T)	.	.	0.999990361384395	0.938
18	33740969	T	A	18	36161006	y	y	splicing	ELP2(NM_001242875:exon18:c.1956+2T>A;NM_001242876:exon16:c.1746+2T>A;NM_018255:exon17:c.1761+2T>A;NM_001242878:exon15:c.1551+2T>A;NM_001242877:exon16:c.1683+2T>A;NM_001242879:exon14:c.1551+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1761+2T>A;ENST00000351393:exon16:c.1683+2T>A;ENST00000442325:exon18:c.1956+2T>A;ENST00000423854:exon14:c.1551+2T>A;ENST00000539560:exon17:c.1761+2T>A;ENST00000350494:exon16:c.1746+2T>A;ENST00000542824:exon15:c.1551+2T>A;ENST00000540799:exon4:c.361+2T>A)	.	.	0.999988247793601	0.932
18	33740969	T	C	18	36161006	y	y	splicing	ELP2(NM_001242875:exon18:c.1956+2T>C;NM_001242876:exon16:c.1746+2T>C;NM_018255:exon17:c.1761+2T>C;NM_001242878:exon15:c.1551+2T>C;NM_001242877:exon16:c.1683+2T>C;NM_001242879:exon14:c.1551+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1761+2T>C;ENST00000351393:exon16:c.1683+2T>C;ENST00000442325:exon18:c.1956+2T>C;ENST00000423854:exon14:c.1551+2T>C;ENST00000539560:exon17:c.1761+2T>C;ENST00000350494:exon16:c.1746+2T>C;ENST00000542824:exon15:c.1551+2T>C;ENST00000540799:exon4:c.361+2T>C)	.	.	0.99340600729494	0.688
18	33740969	T	G	18	36161006	y	y	splicing	ELP2(NM_001242875:exon18:c.1956+2T>G;NM_001242876:exon16:c.1746+2T>G;NM_018255:exon17:c.1761+2T>G;NM_001242878:exon15:c.1551+2T>G;NM_001242877:exon16:c.1683+2T>G;NM_001242879:exon14:c.1551+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon17:c.1761+2T>G;ENST00000351393:exon16:c.1683+2T>G;ENST00000442325:exon18:c.1956+2T>G;ENST00000423854:exon14:c.1551+2T>G;ENST00000539560:exon17:c.1761+2T>G;ENST00000350494:exon16:c.1746+2T>G;ENST00000542824:exon15:c.1551+2T>G;ENST00000540799:exon4:c.361+2T>G)	.	.	0.999988247793601	0.932
18	33740970	A	C	18	36161007	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998729507265314	0.904
18	33740970	A	G	18	36161007	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998837218205292	0.964
18	33740970	A	T	18	36161007	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999050687988642	0.942
18	33740971	G	A	18	36161008	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.33022152379092E-4	0.072
18	33740971	G	C	18	36161008	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00121202525750249	0.166
18	33740971	G	T	18	36161008	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.6350029114287E-4	0.068
18	33740972	G	A	18	36161009	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.994974291167106	0.726
18	33740972	G	C	18	36161009	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.970282474135292	0.654
18	33740972	G	T	18	36161009	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999792719419158	0.89
18	33740973	G	A	18	36161010	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.43702592375146E-5	0.002
18	33740973	G	C	18	36161010	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.24623408721426E-5	0.004
18	33740973	G	T	18	36161010	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.23900548684356E-5	0.0
18	33740974	A	C	18	36161011	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.06578423544062E-4	0.004
18	33740974	A	G	18	36161011	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.6556376943748E-4	0.004
18	33740974	A	T	18	36161011	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.61996082422776E-4	0.004
18	33740975	A	C	18	36161012	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.91450504090576E-4	0.016
18	33740975	A	G	18	36161012	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.63153874326714E-4	0.01
18	33740975	A	T	18	36161012	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.80237894650322E-4	0.016
18	33744426	T	A	18	36164463	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00361018497286934	0.252
18	33744426	T	C	18	36164463	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.23462175023547E-5	0.02
18	33744426	T	G	18	36164463	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00153904977931926	0.21
18	33744427	C	A	18	36164464	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.45563131361003E-4	0.058
18	33744427	C	G	18	36164464	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.09600126531242E-4	0.002
18	33744427	C	T	18	36164464	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.40479391897402E-5	0.0
18	33744428	T	A	18	36164465	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999453674300167	0.972
18	33744428	T	C	18	36164465	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.44062343553082E-4	0.002
18	33744428	T	G	18	36164465	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00618384747697348	0.33
18	33744429	G	A	18	36164466	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.79109468166013E-4	0.004
18	33744429	G	C	18	36164466	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.79882363689001E-5	0.0
18	33744429	G	T	18	36164466	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.94961258191646E-5	0.002
18	33744430	T	A	18	36164467	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00170630206795965	0.074
18	33744430	T	C	18	36164467	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.36776825818465E-5	0.002
18	33744430	T	G	18	36164467	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.5297273004054E-4	0.086
18	33744431	C	A	18	36164468	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.22619570231149E-4	0.1
18	33744431	C	G	18	36164468	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.18103314839252E-5	0.01
18	33744431	C	T	18	36164468	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.43407570778284E-5	0.0
18	33744432	C	A	18	36164469	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.02272387564799E-4	0.064
18	33744432	C	G	18	36164469	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.51202573786181E-4	0.088
18	33744432	C	T	18	36164469	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.67235409203197E-5	0.0
18	33744433	T	A	18	36164470	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.33761572548649E-4	0.092
18	33744433	T	C	18	36164470	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.62934595325055E-5	0.008
18	33744433	T	G	18	36164470	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.87280783708698E-4	0.09
18	33744434	A	C	18	36164471	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.99394854774239E-5	0.0
18	33744434	A	G	18	36164471	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.34428570290872E-5	0.0
18	33744434	A	T	18	36164471	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.7523920095872E-5	0.002
18	33744435	T	A	18	36164472	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.26506103793529E-4	0.13
18	33744435	T	C	18	36164472	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.81885804507246E-5	0.002
18	33744435	T	G	18	36164472	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.470349957747668	0.634
18	33744436	A	C	18	36164473	y	y	splicing	ELP2(NM_001242875:exon19:c.1957-2A>C;NM_001242876:exon17:c.1747-2A>C;NM_018255:exon18:c.1762-2A>C;NM_001242878:exon16:c.1552-2A>C;NM_001242877:exon17:c.1684-2A>C;NM_001242879:exon15:c.1552-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1762-2A>C;ENST00000351393:exon17:c.1684-2A>C;ENST00000442325:exon19:c.1957-2A>C;ENST00000423854:exon15:c.1552-2A>C;ENST00000539560:exon18:c.1762-2A>C;ENST00000350494:exon17:c.1747-2A>C;ENST00000542824:exon16:c.1552-2A>C;ENST00000540799:exon5:c.362-2A>C)	.	.	0.999978952611685	0.928
18	33744436	A	G	18	36164473	y	y	splicing	ELP2(NM_001242875:exon19:c.1957-2A>G;NM_001242876:exon17:c.1747-2A>G;NM_018255:exon18:c.1762-2A>G;NM_001242878:exon16:c.1552-2A>G;NM_001242877:exon17:c.1684-2A>G;NM_001242879:exon15:c.1552-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1762-2A>G;ENST00000351393:exon17:c.1684-2A>G;ENST00000442325:exon19:c.1957-2A>G;ENST00000423854:exon15:c.1552-2A>G;ENST00000539560:exon18:c.1762-2A>G;ENST00000350494:exon17:c.1747-2A>G;ENST00000542824:exon16:c.1552-2A>G;ENST00000540799:exon5:c.362-2A>G)	.	.	0.999978952611685	0.928
18	33744436	A	T	18	36164473	y	y	splicing	ELP2(NM_001242875:exon19:c.1957-2A>T;NM_001242876:exon17:c.1747-2A>T;NM_018255:exon18:c.1762-2A>T;NM_001242878:exon16:c.1552-2A>T;NM_001242877:exon17:c.1684-2A>T;NM_001242879:exon15:c.1552-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1762-2A>T;ENST00000351393:exon17:c.1684-2A>T;ENST00000442325:exon19:c.1957-2A>T;ENST00000423854:exon15:c.1552-2A>T;ENST00000539560:exon18:c.1762-2A>T;ENST00000350494:exon17:c.1747-2A>T;ENST00000542824:exon16:c.1552-2A>T;ENST00000540799:exon5:c.362-2A>T)	.	.	0.999983636037506	0.928
18	33744437	G	A	18	36164474	y	y	splicing	ELP2(NM_001242875:exon19:c.1957-1G>A;NM_001242876:exon17:c.1747-1G>A;NM_018255:exon18:c.1762-1G>A;NM_001242878:exon16:c.1552-1G>A;NM_001242877:exon17:c.1684-1G>A;NM_001242879:exon15:c.1552-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1762-1G>A;ENST00000351393:exon17:c.1684-1G>A;ENST00000442325:exon19:c.1957-1G>A;ENST00000423854:exon15:c.1552-1G>A;ENST00000539560:exon18:c.1762-1G>A;ENST00000350494:exon17:c.1747-1G>A;ENST00000542824:exon16:c.1552-1G>A;ENST00000540799:exon5:c.362-1G>A)	.	.	0.999990361384395	0.936
18	33744437	G	C	18	36164474	y	y	splicing	ELP2(NM_001242875:exon19:c.1957-1G>C;NM_001242876:exon17:c.1747-1G>C;NM_018255:exon18:c.1762-1G>C;NM_001242878:exon16:c.1552-1G>C;NM_001242877:exon17:c.1684-1G>C;NM_001242879:exon15:c.1552-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1762-1G>C;ENST00000351393:exon17:c.1684-1G>C;ENST00000442325:exon19:c.1957-1G>C;ENST00000423854:exon15:c.1552-1G>C;ENST00000539560:exon18:c.1762-1G>C;ENST00000350494:exon17:c.1747-1G>C;ENST00000542824:exon16:c.1552-1G>C;ENST00000540799:exon5:c.362-1G>C)	.	.	0.999990361384395	0.936
18	33744437	G	T	18	36164474	y	y	splicing	ELP2(NM_001242875:exon19:c.1957-1G>T;NM_001242876:exon17:c.1747-1G>T;NM_018255:exon18:c.1762-1G>T;NM_001242878:exon16:c.1552-1G>T;NM_001242877:exon17:c.1684-1G>T;NM_001242879:exon15:c.1552-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1762-1G>T;ENST00000351393:exon17:c.1684-1G>T;ENST00000442325:exon19:c.1957-1G>T;ENST00000423854:exon15:c.1552-1G>T;ENST00000539560:exon18:c.1762-1G>T;ENST00000350494:exon17:c.1747-1G>T;ENST00000542824:exon16:c.1552-1G>T;ENST00000540799:exon5:c.362-1G>T)	.	.	0.999990361384395	0.936
18	33744438	G	A	18	36164475	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.G1552A:p.A518T;ELP2:NM_001242875:exon19:c.G1957A:p.A653T;ELP2:NM_001242878:exon16:c.G1552A:p.A518T;ELP2:NM_018255:exon18:c.G1762A:p.A588T;ELP2:NM_001242876:exon17:c.G1747A:p.A583T;ELP2:NM_001242877:exon17:c.G1684A:p.A562T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.G1552A:p.A518T;ENSG00000134759:ENST00000351393:exon17:c.G1684A:p.A562T;ENSG00000134759:ENST00000442325:exon19:c.G1957A:p.A653T;ENSG00000134759:ENST00000350494:exon17:c.G1747A:p.A583T;ENSG00000134759:ENST00000423854:exon15:c.G1552A:p.A518T;ENSG00000134759:ENST00000358232:exon18:c.G1762A:p.A588T;ENSG00000134759:ENST00000539560:exon18:c.G1762A:p.A588T;	0.996009248063954	0.864
18	33744438	G	C	18	36164475	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.G1552C:p.A518P;ELP2:NM_001242875:exon19:c.G1957C:p.A653P;ELP2:NM_001242878:exon16:c.G1552C:p.A518P;ELP2:NM_018255:exon18:c.G1762C:p.A588P;ELP2:NM_001242876:exon17:c.G1747C:p.A583P;ELP2:NM_001242877:exon17:c.G1684C:p.A562P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.G1552C:p.A518P;ENSG00000134759:ENST00000351393:exon17:c.G1684C:p.A562P;ENSG00000134759:ENST00000442325:exon19:c.G1957C:p.A653P;ENSG00000134759:ENST00000350494:exon17:c.G1747C:p.A583P;ENSG00000134759:ENST00000423854:exon15:c.G1552C:p.A518P;ENSG00000134759:ENST00000358232:exon18:c.G1762C:p.A588P;ENSG00000134759:ENST00000539560:exon18:c.G1762C:p.A588P;	0.999688486148583	0.922
18	33744438	G	T	18	36164475	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.G1552T:p.A518S;ELP2:NM_001242875:exon19:c.G1957T:p.A653S;ELP2:NM_001242878:exon16:c.G1552T:p.A518S;ELP2:NM_018255:exon18:c.G1762T:p.A588S;ELP2:NM_001242876:exon17:c.G1747T:p.A583S;ELP2:NM_001242877:exon17:c.G1684T:p.A562S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.G1552T:p.A518S;ENSG00000134759:ENST00000351393:exon17:c.G1684T:p.A562S;ENSG00000134759:ENST00000442325:exon19:c.G1957T:p.A653S;ENSG00000134759:ENST00000350494:exon17:c.G1747T:p.A583S;ENSG00000134759:ENST00000423854:exon15:c.G1552T:p.A518S;ENSG00000134759:ENST00000358232:exon18:c.G1762T:p.A588S;ENSG00000134759:ENST00000539560:exon18:c.G1762T:p.A588S;	0.999817466549665	0.952
18	33744439	C	A	18	36164476	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.C1553A:p.A518E;ELP2:NM_001242875:exon19:c.C1958A:p.A653E;ELP2:NM_001242878:exon16:c.C1553A:p.A518E;ELP2:NM_018255:exon18:c.C1763A:p.A588E;ELP2:NM_001242876:exon17:c.C1748A:p.A583E;ELP2:NM_001242877:exon17:c.C1685A:p.A562E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.C1553A:p.A518E;ENSG00000134759:ENST00000351393:exon17:c.C1685A:p.A562E;ENSG00000134759:ENST00000442325:exon19:c.C1958A:p.A653E;ENSG00000134759:ENST00000350494:exon17:c.C1748A:p.A583E;ENSG00000134759:ENST00000423854:exon15:c.C1553A:p.A518E;ENSG00000134759:ENST00000358232:exon18:c.C1763A:p.A588E;ENSG00000134759:ENST00000539560:exon18:c.C1763A:p.A588E;	0.992708558819609	0.844
18	33744439	C	G	18	36164476	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.C1553G:p.A518G;ELP2:NM_001242875:exon19:c.C1958G:p.A653G;ELP2:NM_001242878:exon16:c.C1553G:p.A518G;ELP2:NM_018255:exon18:c.C1763G:p.A588G;ELP2:NM_001242876:exon17:c.C1748G:p.A583G;ELP2:NM_001242877:exon17:c.C1685G:p.A562G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.C1553G:p.A518G;ENSG00000134759:ENST00000351393:exon17:c.C1685G:p.A562G;ENSG00000134759:ENST00000442325:exon19:c.C1958G:p.A653G;ENSG00000134759:ENST00000350494:exon17:c.C1748G:p.A583G;ENSG00000134759:ENST00000423854:exon15:c.C1553G:p.A518G;ENSG00000134759:ENST00000358232:exon18:c.C1763G:p.A588G;ENSG00000134759:ENST00000539560:exon18:c.C1763G:p.A588G;	0.984302715926447	0.806
18	33744439	C	T	18	36164476	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.C1553T:p.A518V;ELP2:NM_001242875:exon19:c.C1958T:p.A653V;ELP2:NM_001242878:exon16:c.C1553T:p.A518V;ELP2:NM_018255:exon18:c.C1763T:p.A588V;ELP2:NM_001242876:exon17:c.C1748T:p.A583V;ELP2:NM_001242877:exon17:c.C1685T:p.A562V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.C1553T:p.A518V;ENSG00000134759:ENST00000351393:exon17:c.C1685T:p.A562V;ENSG00000134759:ENST00000442325:exon19:c.C1958T:p.A653V;ENSG00000134759:ENST00000350494:exon17:c.C1748T:p.A583V;ENSG00000134759:ENST00000423854:exon15:c.C1553T:p.A518V;ENSG00000134759:ENST00000358232:exon18:c.C1763T:p.A588V;ENSG00000134759:ENST00000539560:exon18:c.C1763T:p.A588V;	0.976285951047782	0.862
18	33744628	T	A	18	36164665	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.T1742A:p.F581Y;ELP2:NM_001242875:exon19:c.T2147A:p.F716Y;ELP2:NM_001242878:exon16:c.T1742A:p.F581Y;ELP2:NM_018255:exon18:c.T1952A:p.F651Y;ELP2:NM_001242876:exon17:c.T1937A:p.F646Y;ELP2:NM_001242877:exon17:c.T1874A:p.F625Y;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.T1742A:p.F581Y;ENSG00000134759:ENST00000351393:exon17:c.T1874A:p.F625Y;ENSG00000134759:ENST00000442325:exon19:c.T2147A:p.F716Y;ENSG00000134759:ENST00000350494:exon17:c.T1937A:p.F646Y;ENSG00000134759:ENST00000423854:exon15:c.T1742A:p.F581Y;ENSG00000134759:ENST00000358232:exon18:c.T1952A:p.F651Y;ENSG00000134759:ENST00000539560:exon18:c.T1952A:p.F651Y;	3.02801955228422E-4	0.04
18	33744628	T	C	18	36164665	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.T1742C:p.F581S;ELP2:NM_001242875:exon19:c.T2147C:p.F716S;ELP2:NM_001242878:exon16:c.T1742C:p.F581S;ELP2:NM_018255:exon18:c.T1952C:p.F651S;ELP2:NM_001242876:exon17:c.T1937C:p.F646S;ELP2:NM_001242877:exon17:c.T1874C:p.F625S;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.T1742C:p.F581S;ENSG00000134759:ENST00000351393:exon17:c.T1874C:p.F625S;ENSG00000134759:ENST00000442325:exon19:c.T2147C:p.F716S;ENSG00000134759:ENST00000350494:exon17:c.T1937C:p.F646S;ENSG00000134759:ENST00000423854:exon15:c.T1742C:p.F581S;ENSG00000134759:ENST00000358232:exon18:c.T1952C:p.F651S;ENSG00000134759:ENST00000539560:exon18:c.T1952C:p.F651S;	7.01526705229027E-4	0.036
18	33744628	T	G	18	36164665	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.T1742G:p.F581C;ELP2:NM_001242875:exon19:c.T2147G:p.F716C;ELP2:NM_001242878:exon16:c.T1742G:p.F581C;ELP2:NM_018255:exon18:c.T1952G:p.F651C;ELP2:NM_001242876:exon17:c.T1937G:p.F646C;ELP2:NM_001242877:exon17:c.T1874G:p.F625C;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.T1742G:p.F581C;ENSG00000134759:ENST00000351393:exon17:c.T1874G:p.F625C;ENSG00000134759:ENST00000442325:exon19:c.T2147G:p.F716C;ENSG00000134759:ENST00000350494:exon17:c.T1937G:p.F646C;ENSG00000134759:ENST00000423854:exon15:c.T1742G:p.F581C;ENSG00000134759:ENST00000358232:exon18:c.T1952G:p.F651C;ENSG00000134759:ENST00000539560:exon18:c.T1952G:p.F651C;	0.0427437720615243	0.372
18	33744629	C	A	18	36164666	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.C1743A:p.F581L;ELP2:NM_001242875:exon19:c.C2148A:p.F716L;ELP2:NM_001242878:exon16:c.C1743A:p.F581L;ELP2:NM_018255:exon18:c.C1953A:p.F651L;ELP2:NM_001242876:exon17:c.C1938A:p.F646L;ELP2:NM_001242877:exon17:c.C1875A:p.F625L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.C1743A:p.F581L;ENSG00000134759:ENST00000351393:exon17:c.C1875A:p.F625L;ENSG00000134759:ENST00000442325:exon19:c.C2148A:p.F716L;ENSG00000134759:ENST00000350494:exon17:c.C1938A:p.F646L;ENSG00000134759:ENST00000423854:exon15:c.C1743A:p.F581L;ENSG00000134759:ENST00000358232:exon18:c.C1953A:p.F651L;ENSG00000134759:ENST00000539560:exon18:c.C1953A:p.F651L;	1.68035075059138E-4	0.122
18	33744629	C	G	18	36164666	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.C1743G:p.F581L;ELP2:NM_001242875:exon19:c.C2148G:p.F716L;ELP2:NM_001242878:exon16:c.C1743G:p.F581L;ELP2:NM_018255:exon18:c.C1953G:p.F651L;ELP2:NM_001242876:exon17:c.C1938G:p.F646L;ELP2:NM_001242877:exon17:c.C1875G:p.F625L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.C1743G:p.F581L;ENSG00000134759:ENST00000351393:exon17:c.C1875G:p.F625L;ENSG00000134759:ENST00000442325:exon19:c.C2148G:p.F716L;ENSG00000134759:ENST00000350494:exon17:c.C1938G:p.F646L;ENSG00000134759:ENST00000423854:exon15:c.C1743G:p.F581L;ENSG00000134759:ENST00000358232:exon18:c.C1953G:p.F651L;ENSG00000134759:ENST00000539560:exon18:c.C1953G:p.F651L;	0.00779622002750202	0.086
18	33744629	C	T	18	36164666	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon15:c.C1743T:p.F581F;ELP2:NM_001242875:exon19:c.C2148T:p.F716F;ELP2:NM_001242878:exon16:c.C1743T:p.F581F;ELP2:NM_018255:exon18:c.C1953T:p.F651F;ELP2:NM_001242876:exon17:c.C1938T:p.F646F;ELP2:NM_001242877:exon17:c.C1875T:p.F625F;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.C1743T:p.F581F;ENSG00000134759:ENST00000351393:exon17:c.C1875T:p.F625F;ENSG00000134759:ENST00000442325:exon19:c.C2148T:p.F716F;ENSG00000134759:ENST00000350494:exon17:c.C1938T:p.F646F;ENSG00000134759:ENST00000423854:exon15:c.C1743T:p.F581F;ENSG00000134759:ENST00000358232:exon18:c.C1953T:p.F651F;ENSG00000134759:ENST00000539560:exon18:c.C1953T:p.F651F;	0.00762448596686435	0.146
18	33744630	G	A	18	36164667	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.G1744A:p.E582K;ELP2:NM_001242875:exon19:c.G2149A:p.E717K;ELP2:NM_001242878:exon16:c.G1744A:p.E582K;ELP2:NM_018255:exon18:c.G1954A:p.E652K;ELP2:NM_001242876:exon17:c.G1939A:p.E647K;ELP2:NM_001242877:exon17:c.G1876A:p.E626K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.G1744A:p.E582K;ENSG00000134759:ENST00000351393:exon17:c.G1876A:p.E626K;ENSG00000134759:ENST00000442325:exon19:c.G2149A:p.E717K;ENSG00000134759:ENST00000350494:exon17:c.G1939A:p.E647K;ENSG00000134759:ENST00000423854:exon15:c.G1744A:p.E582K;ENSG00000134759:ENST00000358232:exon18:c.G1954A:p.E652K;ENSG00000134759:ENST00000539560:exon18:c.G1954A:p.V652I;	0.99999771883435	0.994
18	33744630	G	C	18	36164667	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon15:c.G1744C:p.E582Q;ELP2:NM_001242875:exon19:c.G2149C:p.E717Q;ELP2:NM_001242878:exon16:c.G1744C:p.E582Q;ELP2:NM_018255:exon18:c.G1954C:p.E652Q;ELP2:NM_001242876:exon17:c.G1939C:p.E647Q;ELP2:NM_001242877:exon17:c.G1876C:p.E626Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon16:c.G1744C:p.E582Q;ENSG00000134759:ENST00000351393:exon17:c.G1876C:p.E626Q;ENSG00000134759:ENST00000442325:exon19:c.G2149C:p.E717Q;ENSG00000134759:ENST00000350494:exon17:c.G1939C:p.E647Q;ENSG00000134759:ENST00000423854:exon15:c.G1744C:p.E582Q;ENSG00000134759:ENST00000358232:exon18:c.G1954C:p.E652Q;ENSG00000134759:ENST00000539560:exon18:c.G1954C:p.V652L;	0.999998204881276	0.994
18	33744630	G	T	18	36164667	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon15:c.G1744T:p.E582X;ELP2:NM_001242875:exon19:c.G2149T:p.E717X;ELP2:NM_001242878:exon16:c.G1744T:p.E582X;ELP2:NM_018255:exon18:c.G1954T:p.E652X;ELP2:NM_001242876:exon17:c.G1939T:p.E647X;ELP2:NM_001242877:exon17:c.G1876T:p.E626X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon16:c.G1744T:p.E582X;ENSG00000134759:ENST00000351393:exon17:c.G1876T:p.E626X;ENSG00000134759:ENST00000442325:exon19:c.G2149T:p.E717X;ENSG00000134759:ENST00000350494:exon17:c.G1939T:p.E647X;ENSG00000134759:ENST00000423854:exon15:c.G1744T:p.E582X;ENSG00000134759:ENST00000358232:exon18:c.G1954T:p.E652X;	0.999990161822346	0.992
18	33744631	G	A	18	36164668	y	y	splicing	ELP2(NM_001242875:exon19:c.2149+1G>A;NM_001242876:exon17:c.1939+1G>A;NM_018255:exon18:c.1954+1G>A;NM_001242878:exon16:c.1744+1G>A;NM_001242877:exon17:c.1876+1G>A;NM_001242879:exon15:c.1744+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1954+1G>A;ENST00000351393:exon17:c.1876+1G>A;ENST00000442325:exon19:c.2149+1G>A;ENST00000423854:exon15:c.1744+1G>A;ENST00000539560:exon18:c.1954+1G>A;ENST00000350494:exon17:c.1939+1G>A;ENST00000542824:exon16:c.1744+1G>A)	.	.	0.999990161071044	0.928
18	33744631	G	C	18	36164668	y	y	splicing	ELP2(NM_001242875:exon19:c.2149+1G>C;NM_001242876:exon17:c.1939+1G>C;NM_018255:exon18:c.1954+1G>C;NM_001242878:exon16:c.1744+1G>C;NM_001242877:exon17:c.1876+1G>C;NM_001242879:exon15:c.1744+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1954+1G>C;ENST00000351393:exon17:c.1876+1G>C;ENST00000442325:exon19:c.2149+1G>C;ENST00000423854:exon15:c.1744+1G>C;ENST00000539560:exon18:c.1954+1G>C;ENST00000350494:exon17:c.1939+1G>C;ENST00000542824:exon16:c.1744+1G>C)	.	.	0.999990161071044	0.928
18	33744631	G	T	18	36164668	y	y	splicing	ELP2(NM_001242875:exon19:c.2149+1G>T;NM_001242876:exon17:c.1939+1G>T;NM_018255:exon18:c.1954+1G>T;NM_001242878:exon16:c.1744+1G>T;NM_001242877:exon17:c.1876+1G>T;NM_001242879:exon15:c.1744+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1954+1G>T;ENST00000351393:exon17:c.1876+1G>T;ENST00000442325:exon19:c.2149+1G>T;ENST00000423854:exon15:c.1744+1G>T;ENST00000539560:exon18:c.1954+1G>T;ENST00000350494:exon17:c.1939+1G>T;ENST00000542824:exon16:c.1744+1G>T)	.	.	0.999990161071044	0.928
18	33744632	T	A	18	36164669	y	y	splicing	ELP2(NM_001242875:exon19:c.2149+2T>A;NM_001242876:exon17:c.1939+2T>A;NM_018255:exon18:c.1954+2T>A;NM_001242878:exon16:c.1744+2T>A;NM_001242877:exon17:c.1876+2T>A;NM_001242879:exon15:c.1744+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1954+2T>A;ENST00000351393:exon17:c.1876+2T>A;ENST00000442325:exon19:c.2149+2T>A;ENST00000423854:exon15:c.1744+2T>A;ENST00000539560:exon18:c.1954+2T>A;ENST00000350494:exon17:c.1939+2T>A;ENST00000542824:exon16:c.1744+2T>A)	.	.	0.999992007541056	0.934
18	33744632	T	C	18	36164669	y	y	splicing	ELP2(NM_001242875:exon19:c.2149+2T>C;NM_001242876:exon17:c.1939+2T>C;NM_018255:exon18:c.1954+2T>C;NM_001242878:exon16:c.1744+2T>C;NM_001242877:exon17:c.1876+2T>C;NM_001242879:exon15:c.1744+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1954+2T>C;ENST00000351393:exon17:c.1876+2T>C;ENST00000442325:exon19:c.2149+2T>C;ENST00000423854:exon15:c.1744+2T>C;ENST00000539560:exon18:c.1954+2T>C;ENST00000350494:exon17:c.1939+2T>C;ENST00000542824:exon16:c.1744+2T>C)	.	.	0.999882061111065	0.87
18	33744632	T	G	18	36164669	y	y	splicing	ELP2(NM_001242875:exon19:c.2149+2T>G;NM_001242876:exon17:c.1939+2T>G;NM_018255:exon18:c.1954+2T>G;NM_001242878:exon16:c.1744+2T>G;NM_001242877:exon17:c.1876+2T>G;NM_001242879:exon15:c.1744+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon18:c.1954+2T>G;ENST00000351393:exon17:c.1876+2T>G;ENST00000442325:exon19:c.2149+2T>G;ENST00000423854:exon15:c.1744+2T>G;ENST00000539560:exon18:c.1954+2T>G;ENST00000350494:exon17:c.1939+2T>G;ENST00000542824:exon16:c.1744+2T>G)	.	.	0.999992007541056	0.932
18	33744633	A	C	18	36164670	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999508599911373	0.908
18	33744633	A	G	18	36164670	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995591884972113	0.788
18	33744633	A	T	18	36164670	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999306678579518	0.908
18	33744634	A	C	18	36164671	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997391239638956	0.772
18	33744634	A	G	18	36164671	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.992396366053327	0.826
18	33744634	A	T	18	36164671	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.995744167880725	0.756
18	33744635	A	C	18	36164672	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.66849286834947E-4	0.024
18	33744635	A	G	18	36164672	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.16218864219097E-4	0.006
18	33744635	A	T	18	36164672	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.02520016151671E-4	0.03
18	33744636	A	C	18	36164673	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.89804290190365E-5	0.042
18	33744636	A	G	18	36164673	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.92308607451242E-5	0.01
18	33744636	A	T	18	36164673	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.98501777021816E-5	0.026
18	33744637	C	A	18	36164674	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.75028752860306E-5	0.008
18	33744637	C	G	18	36164674	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.46021932002716E-5	0.008
18	33744637	C	T	18	36164674	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.23091954882892E-4	0.032
18	33744638	A	C	18	36164675	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.43235024857693E-5	0.006
18	33744638	A	G	18	36164675	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.05971502732592E-4	0.006
18	33744638	A	T	18	36164675	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.83103935799618E-4	0.038
18	33747052	T	A	18	36167089	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0454802109113783	0.368
18	33747052	T	C	18	36167089	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00175052427006201	0.132
18	33747052	T	G	18	36167089	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.992132109784418	0.926
18	33747053	A	C	18	36167090	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.96288560341914E-5	0.008
18	33747053	A	G	18	36167090	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.24228662236578E-5	0.006
18	33747053	A	T	18	36167090	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.13057276958053E-5	0.1
18	33747054	T	A	18	36167091	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.118625002085199	0.496
18	33747054	T	C	18	36167091	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00667427420551682	0.138
18	33747054	T	G	18	36167091	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999927213429692	0.982
18	33747055	T	A	18	36167092	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.649682128259505	0.694
18	33747055	T	C	18	36167092	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0101109460678124	0.192
18	33747055	T	G	18	36167092	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.862217637344182	0.686
18	33747056	T	A	18	36167093	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0494861741416844	0.368
18	33747056	T	C	18	36167093	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.00547478627048E-4	0.012
18	33747056	T	G	18	36167093	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00888287702344088	0.368
18	33747057	C	A	18	36167094	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.04425885191842E-4	0.022
18	33747057	C	G	18	36167094	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.76421183477229E-4	0.044
18	33747057	C	T	18	36167094	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.16860884747559E-5	0.002
18	33747058	T	A	18	36167095	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.917298366665099	0.542
18	33747058	T	C	18	36167095	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00478062378321543	0.15
18	33747058	T	G	18	36167095	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.979163206844697	0.698
18	33747059	T	A	18	36167096	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.677532739353988	0.52
18	33747059	T	C	18	36167096	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0550873751320515	0.222
18	33747059	T	G	18	36167096	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.974068363846836	0.62
18	33747060	T	A	18	36167097	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.77534834966187E-4	0.012
18	33747060	T	C	18	36167097	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.52090502660769E-4	0.024
18	33747060	T	G	18	36167097	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0020674006343612	0.028
18	33747061	C	A	18	36167098	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99970850527653	0.802
18	33747061	C	G	18	36167098	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999749062174024	0.764
18	33747061	C	T	18	36167098	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.10106485295294	0.164
18	33747062	A	C	18	36167099	y	y	splicing	ELP2(NM_001242875:exon20:c.2150-2A>C;NM_001242876:exon18:c.1940-2A>C;NM_018255:exon19:c.1955-2A>C;NM_001242878:exon17:c.1745-2A>C;NM_001242877:exon18:c.1877-2A>C;NM_001242879:exon16:c.1745-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.1955-2A>C;ENST00000351393:exon18:c.1877-2A>C;ENST00000442325:exon20:c.2150-2A>C;ENST00000423854:exon16:c.1745-2A>C;ENST00000350494:exon18:c.1940-2A>C;ENST00000542824:exon17:c.1745-2A>C;ENST00000540766:exon3:c.132-2A>C)	.	.	0.99993872479901	0.958
18	33747062	A	G	18	36167099	y	y	splicing	ELP2(NM_001242875:exon20:c.2150-2A>G;NM_001242876:exon18:c.1940-2A>G;NM_018255:exon19:c.1955-2A>G;NM_001242878:exon17:c.1745-2A>G;NM_001242877:exon18:c.1877-2A>G;NM_001242879:exon16:c.1745-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.1955-2A>G;ENST00000351393:exon18:c.1877-2A>G;ENST00000442325:exon20:c.2150-2A>G;ENST00000423854:exon16:c.1745-2A>G;ENST00000350494:exon18:c.1940-2A>G;ENST00000542824:exon17:c.1745-2A>G;ENST00000540766:exon3:c.132-2A>G)	.	.	0.99993872479901	0.958
18	33747062	A	T	18	36167099	y	y	splicing	ELP2(NM_001242875:exon20:c.2150-2A>T;NM_001242876:exon18:c.1940-2A>T;NM_018255:exon19:c.1955-2A>T;NM_001242878:exon17:c.1745-2A>T;NM_001242877:exon18:c.1877-2A>T;NM_001242879:exon16:c.1745-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.1955-2A>T;ENST00000351393:exon18:c.1877-2A>T;ENST00000442325:exon20:c.2150-2A>T;ENST00000423854:exon16:c.1745-2A>T;ENST00000350494:exon18:c.1940-2A>T;ENST00000542824:exon17:c.1745-2A>T;ENST00000540766:exon3:c.132-2A>T)	.	.	0.99993872479901	0.954
18	33747063	G	A	18	36167100	y	y	splicing	ELP2(NM_001242875:exon20:c.2150-1G>A;NM_001242876:exon18:c.1940-1G>A;NM_018255:exon19:c.1955-1G>A;NM_001242878:exon17:c.1745-1G>A;NM_001242877:exon18:c.1877-1G>A;NM_001242879:exon16:c.1745-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.1955-1G>A;ENST00000351393:exon18:c.1877-1G>A;ENST00000442325:exon20:c.2150-1G>A;ENST00000423854:exon16:c.1745-1G>A;ENST00000350494:exon18:c.1940-1G>A;ENST00000542824:exon17:c.1745-1G>A;ENST00000540766:exon3:c.132-1G>A)	.	.	0.999949744469354	0.934
18	33747063	G	C	18	36167100	y	y	splicing	ELP2(NM_001242875:exon20:c.2150-1G>C;NM_001242876:exon18:c.1940-1G>C;NM_018255:exon19:c.1955-1G>C;NM_001242878:exon17:c.1745-1G>C;NM_001242877:exon18:c.1877-1G>C;NM_001242879:exon16:c.1745-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.1955-1G>C;ENST00000351393:exon18:c.1877-1G>C;ENST00000442325:exon20:c.2150-1G>C;ENST00000423854:exon16:c.1745-1G>C;ENST00000350494:exon18:c.1940-1G>C;ENST00000542824:exon17:c.1745-1G>C;ENST00000540766:exon3:c.132-1G>C)	.	.	0.999949744469354	0.946
18	33747063	G	T	18	36167100	y	y	splicing	ELP2(NM_001242875:exon20:c.2150-1G>T;NM_001242876:exon18:c.1940-1G>T;NM_018255:exon19:c.1955-1G>T;NM_001242878:exon17:c.1745-1G>T;NM_001242877:exon18:c.1877-1G>T;NM_001242879:exon16:c.1745-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.1955-1G>T;ENST00000351393:exon18:c.1877-1G>T;ENST00000442325:exon20:c.2150-1G>T;ENST00000423854:exon16:c.1745-1G>T;ENST00000350494:exon18:c.1940-1G>T;ENST00000542824:exon17:c.1745-1G>T;ENST00000540766:exon3:c.132-1G>T)	.	.	0.999949744469354	0.946
18	33747064	A	C	18	36167101	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.A1745C:p.E582A;ELP2:NM_001242875:exon20:c.A2150C:p.E717A;ELP2:NM_001242878:exon17:c.A1745C:p.E582A;ELP2:NM_018255:exon19:c.A1955C:p.E652A;ELP2:NM_001242876:exon18:c.A1940C:p.E647A;ELP2:NM_001242877:exon18:c.A1877C:p.E626A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.A1745C:p.E582A;ENSG00000134759:ENST00000351393:exon18:c.A1877C:p.E626A;ENSG00000134759:ENST00000442325:exon20:c.A2150C:p.E717A;ENSG00000134759:ENST00000350494:exon18:c.A1940C:p.E647A;ENSG00000134759:ENST00000423854:exon16:c.A1745C:p.E582A;ENSG00000134759:ENST00000358232:exon19:c.A1955C:p.E652A;	0.0120291259388286	0.248
18	33747064	A	G	18	36167101	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.A1745G:p.E582G;ELP2:NM_001242875:exon20:c.A2150G:p.E717G;ELP2:NM_001242878:exon17:c.A1745G:p.E582G;ELP2:NM_018255:exon19:c.A1955G:p.E652G;ELP2:NM_001242876:exon18:c.A1940G:p.E647G;ELP2:NM_001242877:exon18:c.A1877G:p.E626G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.A1745G:p.E582G;ENSG00000134759:ENST00000351393:exon18:c.A1877G:p.E626G;ENSG00000134759:ENST00000442325:exon20:c.A2150G:p.E717G;ENSG00000134759:ENST00000350494:exon18:c.A1940G:p.E647G;ENSG00000134759:ENST00000423854:exon16:c.A1745G:p.E582G;ENSG00000134759:ENST00000358232:exon19:c.A1955G:p.E652G;	9.29686405348411E-4	0.03
18	33747064	A	T	18	36167101	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.A1745T:p.E582V;ELP2:NM_001242875:exon20:c.A2150T:p.E717V;ELP2:NM_001242878:exon17:c.A1745T:p.E582V;ELP2:NM_018255:exon19:c.A1955T:p.E652V;ELP2:NM_001242876:exon18:c.A1940T:p.E647V;ELP2:NM_001242877:exon18:c.A1877T:p.E626V;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.A1745T:p.E582V;ENSG00000134759:ENST00000351393:exon18:c.A1877T:p.E626V;ENSG00000134759:ENST00000442325:exon20:c.A2150T:p.E717V;ENSG00000134759:ENST00000350494:exon18:c.A1940T:p.E647V;ENSG00000134759:ENST00000423854:exon16:c.A1745T:p.E582V;ENSG00000134759:ENST00000358232:exon19:c.A1955T:p.E652V;	0.0768548952044068	0.258
18	33747065	G	A	18	36167102	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon16:c.G1746A:p.E582E;ELP2:NM_001242875:exon20:c.G2151A:p.E717E;ELP2:NM_001242878:exon17:c.G1746A:p.E582E;ELP2:NM_018255:exon19:c.G1956A:p.E652E;ELP2:NM_001242876:exon18:c.G1941A:p.E647E;ELP2:NM_001242877:exon18:c.G1878A:p.E626E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon3:c.G133A:p.A45T;	5.36147885328481E-4	0.04
18	33747065	G	C	18	36167102	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.G1746C:p.E582D;ELP2:NM_001242875:exon20:c.G2151C:p.E717D;ELP2:NM_001242878:exon17:c.G1746C:p.E582D;ELP2:NM_018255:exon19:c.G1956C:p.E652D;ELP2:NM_001242876:exon18:c.G1941C:p.E647D;ELP2:NM_001242877:exon18:c.G1878C:p.E626D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon3:c.G133C:p.A45P;ENSG00000134759:ENST00000542824:exon17:c.G1746C:p.E582D;ENSG00000134759:ENST00000351393:exon18:c.G1878C:p.E626D;ENSG00000134759:ENST00000442325:exon20:c.G2151C:p.E717D;ENSG00000134759:ENST00000350494:exon18:c.G1941C:p.E647D;ENSG00000134759:ENST00000423854:exon16:c.G1746C:p.E582D;ENSG00000134759:ENST00000358232:exon19:c.G1956C:p.E652D;	2.89184576581388E-5	0.0
18	33747065	G	T	18	36167102	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.G1746T:p.E582D;ELP2:NM_001242875:exon20:c.G2151T:p.E717D;ELP2:NM_001242878:exon17:c.G1746T:p.E582D;ELP2:NM_018255:exon19:c.G1956T:p.E652D;ELP2:NM_001242876:exon18:c.G1941T:p.E647D;ELP2:NM_001242877:exon18:c.G1878T:p.E626D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000540766:exon3:c.G133T:p.A45S;ENSG00000134759:ENST00000542824:exon17:c.G1746T:p.E582D;ENSG00000134759:ENST00000351393:exon18:c.G1878T:p.E626D;ENSG00000134759:ENST00000442325:exon20:c.G2151T:p.E717D;ENSG00000134759:ENST00000350494:exon18:c.G1941T:p.E647D;ENSG00000134759:ENST00000423854:exon16:c.G1746T:p.E582D;ENSG00000134759:ENST00000358232:exon19:c.G1956T:p.E652D;	1.20483758077956E-5	0.0
18	33747183	A	C	18	36167220	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.A1864C:p.K622Q;ELP2:NM_001242875:exon20:c.A2269C:p.K757Q;ELP2:NM_001242878:exon17:c.A1864C:p.K622Q;ELP2:NM_018255:exon19:c.A2074C:p.K692Q;ELP2:NM_001242876:exon18:c.A2059C:p.K687Q;ELP2:NM_001242877:exon18:c.A1996C:p.K666Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.A1864C:p.K622Q;ENSG00000134759:ENST00000351393:exon18:c.A1996C:p.K666Q;ENSG00000134759:ENST00000442325:exon20:c.A2269C:p.K757Q;ENSG00000134759:ENST00000350494:exon18:c.A2059C:p.K687Q;ENSG00000134759:ENST00000423854:exon16:c.A1864C:p.K622Q;ENSG00000134759:ENST00000358232:exon19:c.A2074C:p.K692Q;ENSG00000134759:ENST00000539560:exon19:c.A2022C:p.K674N;	0.827037196448626	0.688
18	33747183	A	G	18	36167220	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.A1864G:p.K622E;ELP2:NM_001242875:exon20:c.A2269G:p.K757E;ELP2:NM_001242878:exon17:c.A1864G:p.K622E;ELP2:NM_018255:exon19:c.A2074G:p.K692E;ELP2:NM_001242876:exon18:c.A2059G:p.K687E;ELP2:NM_001242877:exon18:c.A1996G:p.K666E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.A1864G:p.K622E;ENSG00000134759:ENST00000351393:exon18:c.A1996G:p.K666E;ENSG00000134759:ENST00000442325:exon20:c.A2269G:p.K757E;ENSG00000134759:ENST00000350494:exon18:c.A2059G:p.K687E;ENSG00000134759:ENST00000423854:exon16:c.A1864G:p.K622E;ENSG00000134759:ENST00000358232:exon19:c.A2074G:p.K692E;	0.499711960663189	0.508
18	33747183	A	T	18	36167220	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon16:c.A1864T:p.K622X;ELP2:NM_001242875:exon20:c.A2269T:p.K757X;ELP2:NM_001242878:exon17:c.A1864T:p.K622X;ELP2:NM_018255:exon19:c.A2074T:p.K692X;ELP2:NM_001242876:exon18:c.A2059T:p.K687X;ELP2:NM_001242877:exon18:c.A1996T:p.K666X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon17:c.A1864T:p.K622X;ENSG00000134759:ENST00000351393:exon18:c.A1996T:p.K666X;ENSG00000134759:ENST00000442325:exon20:c.A2269T:p.K757X;ENSG00000134759:ENST00000350494:exon18:c.A2059T:p.K687X;ENSG00000134759:ENST00000423854:exon16:c.A1864T:p.K622X;ENSG00000134759:ENST00000358232:exon19:c.A2074T:p.K692X;	0.980697990350981	0.756
18	33747184	A	C	18	36167221	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.A1865C:p.K622T;ELP2:NM_001242875:exon20:c.A2270C:p.K757T;ELP2:NM_001242878:exon17:c.A1865C:p.K622T;ELP2:NM_018255:exon19:c.A2075C:p.K692T;ELP2:NM_001242876:exon18:c.A2060C:p.K687T;ELP2:NM_001242877:exon18:c.A1997C:p.K666T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.A1865C:p.K622T;ENSG00000134759:ENST00000351393:exon18:c.A1997C:p.K666T;ENSG00000134759:ENST00000442325:exon20:c.A2270C:p.K757T;ENSG00000134759:ENST00000350494:exon18:c.A2060C:p.K687T;ENSG00000134759:ENST00000423854:exon16:c.A1865C:p.K622T;ENSG00000134759:ENST00000358232:exon19:c.A2075C:p.K692T;	0.99359540341067	0.89
18	33747184	A	G	18	36167221	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.A1865G:p.K622R;ELP2:NM_001242875:exon20:c.A2270G:p.K757R;ELP2:NM_001242878:exon17:c.A1865G:p.K622R;ELP2:NM_018255:exon19:c.A2075G:p.K692R;ELP2:NM_001242876:exon18:c.A2060G:p.K687R;ELP2:NM_001242877:exon18:c.A1997G:p.K666R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.A1865G:p.K622R;ENSG00000134759:ENST00000351393:exon18:c.A1997G:p.K666R;ENSG00000134759:ENST00000442325:exon20:c.A2270G:p.K757R;ENSG00000134759:ENST00000350494:exon18:c.A2060G:p.K687R;ENSG00000134759:ENST00000423854:exon16:c.A1865G:p.K622R;ENSG00000134759:ENST00000358232:exon19:c.A2075G:p.K692R;ENSG00000134759:ENST00000539560:exon19:c.A2023G:p.R675G;	0.995963177984342	0.882
18	33747184	A	T	18	36167221	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.A1865T:p.K622M;ELP2:NM_001242875:exon20:c.A2270T:p.K757M;ELP2:NM_001242878:exon17:c.A1865T:p.K622M;ELP2:NM_018255:exon19:c.A2075T:p.K692M;ELP2:NM_001242876:exon18:c.A2060T:p.K687M;ELP2:NM_001242877:exon18:c.A1997T:p.K666M;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.A1865T:p.K622M;ENSG00000134759:ENST00000351393:exon18:c.A1997T:p.K666M;ENSG00000134759:ENST00000442325:exon20:c.A2270T:p.K757M;ENSG00000134759:ENST00000350494:exon18:c.A2060T:p.K687M;ENSG00000134759:ENST00000423854:exon16:c.A1865T:p.K622M;ENSG00000134759:ENST00000358232:exon19:c.A2075T:p.K692M;ENSG00000134759:ENST00000539560:exon19:c.A2023T:p.R675W;	0.996593333541018	0.864
18	33747185	G	A	18	36167222	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon16:c.G1866A:p.K622K;ELP2:NM_001242875:exon20:c.G2271A:p.K757K;ELP2:NM_001242878:exon17:c.G1866A:p.K622K;ELP2:NM_018255:exon19:c.G2076A:p.K692K;ELP2:NM_001242876:exon18:c.G2061A:p.K687K;ELP2:NM_001242877:exon18:c.G1998A:p.K666K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000539560:exon19:c.G2024A:p.R675K;	0.999985201753921	0.998
18	33747185	G	C	18	36167222	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.G1866C:p.K622N;ELP2:NM_001242875:exon20:c.G2271C:p.K757N;ELP2:NM_001242878:exon17:c.G1866C:p.K622N;ELP2:NM_018255:exon19:c.G2076C:p.K692N;ELP2:NM_001242876:exon18:c.G2061C:p.K687N;ELP2:NM_001242877:exon18:c.G1998C:p.K666N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.G1866C:p.K622N;ENSG00000134759:ENST00000351393:exon18:c.G1998C:p.K666N;ENSG00000134759:ENST00000442325:exon20:c.G2271C:p.K757N;ENSG00000134759:ENST00000350494:exon18:c.G2061C:p.K687N;ENSG00000134759:ENST00000423854:exon16:c.G1866C:p.K622N;ENSG00000134759:ENST00000358232:exon19:c.G2076C:p.K692N;ENSG00000134759:ENST00000539560:exon19:c.G2024C:p.R675T;	0.99999721398396	0.996
18	33747185	G	T	18	36167222	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon16:c.G1866T:p.K622N;ELP2:NM_001242875:exon20:c.G2271T:p.K757N;ELP2:NM_001242878:exon17:c.G1866T:p.K622N;ELP2:NM_018255:exon19:c.G2076T:p.K692N;ELP2:NM_001242876:exon18:c.G2061T:p.K687N;ELP2:NM_001242877:exon18:c.G1998T:p.K666N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon17:c.G1866T:p.K622N;ENSG00000134759:ENST00000351393:exon18:c.G1998T:p.K666N;ENSG00000134759:ENST00000442325:exon20:c.G2271T:p.K757N;ENSG00000134759:ENST00000350494:exon18:c.G2061T:p.K687N;ENSG00000134759:ENST00000423854:exon16:c.G1866T:p.K622N;ENSG00000134759:ENST00000358232:exon19:c.G2076T:p.K692N;ENSG00000134759:ENST00000539560:exon19:c.G2024T:p.R675M;	0.999982567725171	0.972
18	33747186	G	A	18	36167223	y	y	splicing	ELP2(NM_001242875:exon20:c.2271+1G>A;NM_001242876:exon18:c.2061+1G>A;NM_018255:exon19:c.2076+1G>A;NM_001242878:exon17:c.1866+1G>A;NM_001242877:exon18:c.1998+1G>A;NM_001242879:exon16:c.1866+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.2076+1G>A;ENST00000351393:exon18:c.1998+1G>A;ENST00000442325:exon20:c.2271+1G>A;ENST00000423854:exon16:c.1866+1G>A;ENST00000539560:exon19:c.2024+1G>A;ENST00000350494:exon18:c.2061+1G>A;ENST00000542824:exon17:c.1866+1G>A;ENST00000540766:exon3:c.253+1G>A)	.	.	0.999990361384395	0.938
18	33747186	G	C	18	36167223	y	y	splicing	ELP2(NM_001242875:exon20:c.2271+1G>C;NM_001242876:exon18:c.2061+1G>C;NM_018255:exon19:c.2076+1G>C;NM_001242878:exon17:c.1866+1G>C;NM_001242877:exon18:c.1998+1G>C;NM_001242879:exon16:c.1866+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.2076+1G>C;ENST00000351393:exon18:c.1998+1G>C;ENST00000442325:exon20:c.2271+1G>C;ENST00000423854:exon16:c.1866+1G>C;ENST00000539560:exon19:c.2024+1G>C;ENST00000350494:exon18:c.2061+1G>C;ENST00000542824:exon17:c.1866+1G>C;ENST00000540766:exon3:c.253+1G>C)	.	.	0.999990361384395	0.938
18	33747186	G	T	18	36167223	y	y	splicing	ELP2(NM_001242875:exon20:c.2271+1G>T;NM_001242876:exon18:c.2061+1G>T;NM_018255:exon19:c.2076+1G>T;NM_001242878:exon17:c.1866+1G>T;NM_001242877:exon18:c.1998+1G>T;NM_001242879:exon16:c.1866+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.2076+1G>T;ENST00000351393:exon18:c.1998+1G>T;ENST00000442325:exon20:c.2271+1G>T;ENST00000423854:exon16:c.1866+1G>T;ENST00000539560:exon19:c.2024+1G>T;ENST00000350494:exon18:c.2061+1G>T;ENST00000542824:exon17:c.1866+1G>T;ENST00000540766:exon3:c.253+1G>T)	.	.	0.999990361384395	0.938
18	33747187	T	A	18	36167224	y	y	splicing	ELP2(NM_001242875:exon20:c.2271+2T>A;NM_001242876:exon18:c.2061+2T>A;NM_018255:exon19:c.2076+2T>A;NM_001242878:exon17:c.1866+2T>A;NM_001242877:exon18:c.1998+2T>A;NM_001242879:exon16:c.1866+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.2076+2T>A;ENST00000351393:exon18:c.1998+2T>A;ENST00000442325:exon20:c.2271+2T>A;ENST00000423854:exon16:c.1866+2T>A;ENST00000539560:exon19:c.2024+2T>A;ENST00000350494:exon18:c.2061+2T>A;ENST00000542824:exon17:c.1866+2T>A;ENST00000540766:exon3:c.253+2T>A)	.	.	0.999963838970064	0.89
18	33747187	T	C	18	36167224	y	y	splicing	ELP2(NM_001242875:exon20:c.2271+2T>C;NM_001242876:exon18:c.2061+2T>C;NM_018255:exon19:c.2076+2T>C;NM_001242878:exon17:c.1866+2T>C;NM_001242877:exon18:c.1998+2T>C;NM_001242879:exon16:c.1866+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.2076+2T>C;ENST00000351393:exon18:c.1998+2T>C;ENST00000442325:exon20:c.2271+2T>C;ENST00000423854:exon16:c.1866+2T>C;ENST00000539560:exon19:c.2024+2T>C;ENST00000350494:exon18:c.2061+2T>C;ENST00000542824:exon17:c.1866+2T>C;ENST00000540766:exon3:c.253+2T>C)	.	.	0.961312633460095	0.544
18	33747187	T	G	18	36167224	y	y	splicing	ELP2(NM_001242875:exon20:c.2271+2T>G;NM_001242876:exon18:c.2061+2T>G;NM_018255:exon19:c.2076+2T>G;NM_001242878:exon17:c.1866+2T>G;NM_001242877:exon18:c.1998+2T>G;NM_001242879:exon16:c.1866+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon19:c.2076+2T>G;ENST00000351393:exon18:c.1998+2T>G;ENST00000442325:exon20:c.2271+2T>G;ENST00000423854:exon16:c.1866+2T>G;ENST00000539560:exon19:c.2024+2T>G;ENST00000350494:exon18:c.2061+2T>G;ENST00000542824:exon17:c.1866+2T>G;ENST00000540766:exon3:c.253+2T>G)	.	.	0.999963838970064	0.89
18	33747188	A	C	18	36167225	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99963856801629	0.948
18	33747188	A	G	18	36167225	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.994499475432802	0.824
18	33747188	A	T	18	36167225	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998755679264987	0.932
18	33747189	A	C	18	36167226	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.665226642238493	0.454
18	33747189	A	G	18	36167226	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.767120791464008	0.512
18	33747189	A	T	18	36167226	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.620407051252397	0.412
18	33747190	T	A	18	36167227	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00100881268122065	0.004
18	33747190	T	C	18	36167227	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.05129276351099E-4	0.01
18	33747190	T	G	18	36167227	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.13153222482733E-4	0.02
18	33747191	T	A	18	36167228	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.213587308984712	0.38
18	33747191	T	C	18	36167228	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.471569308870187	0.57
18	33747191	T	G	18	36167228	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0409338165789792	0.362
18	33747192	A	C	18	36167229	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.44578379836037E-5	0.0
18	33747192	A	G	18	36167229	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.39396104446096E-5	0.0
18	33747192	A	T	18	36167229	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.06173559615109E-4	0.004
18	33747193	T	A	18	36167230	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.2487763432406E-4	0.06
18	33747193	T	C	18	36167230	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.02820719163394E-4	0.018
18	33747193	T	G	18	36167230	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.67493746633189E-4	0.026
18	33750014	T	A	18	36170051	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999972629394005	0.988
18	33750014	T	C	18	36170051	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.336097036569626	0.382
18	33750014	T	G	18	36170051	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99756620353818	0.898
18	33750015	G	A	18	36170052	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00335127811889255	0.036
18	33750015	G	C	18	36170052	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.57770866166215E-4	0.004
18	33750015	G	T	18	36170052	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.0559471477719E-4	0.11
18	33750016	T	A	18	36170053	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.994982795447834	0.872
18	33750016	T	C	18	36170053	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0354270250574367	0.206
18	33750016	T	G	18	36170053	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.973942106291051	0.834
18	33750017	C	A	18	36170054	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00981560558742352	0.13
18	33750017	C	G	18	36170054	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00711289500423347	0.124
18	33750017	C	T	18	36170054	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.67829754805953E-4	0.014
18	33750018	T	A	18	36170055	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999979926534665	0.99
18	33750018	T	C	18	36170055	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00202623666065433	0.114
18	33750018	T	G	18	36170055	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.125474138140928	0.368
18	33750019	G	A	18	36170056	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.43309049440796E-4	0.0
18	33750019	G	C	18	36170056	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.95048459408849E-5	0.0
18	33750019	G	T	18	36170056	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.95048459408849E-5	0.0
18	33750020	T	A	18	36170057	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.043924719565629	0.402
18	33750020	T	C	18	36170057	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.44658308856929E-4	0.086
18	33750020	T	G	18	36170057	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.014311627118111	0.39
18	33750021	A	C	18	36170058	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.06481237244302E-5	0.0
18	33750021	A	G	18	36170058	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.78958691012223E-5	0.0
18	33750021	A	T	18	36170058	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.23376980759573E-5	0.046
18	33750022	T	A	18	36170059	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.35303072612634E-5	0.002
18	33750022	T	C	18	36170059	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.3532954940013E-5	0.094
18	33750022	T	G	18	36170059	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.985784390821284	0.85
18	33750023	T	A	18	36170060	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.151951933366364	0.396
18	33750023	T	C	18	36170060	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.26447090770222E-5	0.146
18	33750023	T	G	18	36170060	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998712378561061	0.762
18	33750024	A	C	18	36170061	y	y	splicing	ELP2(NM_001242875:exon21:c.2272-2A>C;NM_001242876:exon19:c.2062-2A>C;NM_018255:exon20:c.2077-2A>C;NM_001242878:exon18:c.1867-2A>C;NM_001242877:exon19:c.1999-2A>C;NM_001242879:exon17:c.1867-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2077-2A>C;ENST00000351393:exon19:c.1999-2A>C;ENST00000442325:exon21:c.2272-2A>C;ENST00000423854:exon17:c.1867-2A>C;ENST00000539560:exon20:c.2025-2A>C;ENST00000350494:exon19:c.2062-2A>C;ENST00000542824:exon18:c.1867-2A>C;ENST00000540766:exon4:c.254-2A>C)	.	.	0.999989917668626	0.952
18	33750024	A	G	18	36170061	y	y	splicing	ELP2(NM_001242875:exon21:c.2272-2A>G;NM_001242876:exon19:c.2062-2A>G;NM_018255:exon20:c.2077-2A>G;NM_001242878:exon18:c.1867-2A>G;NM_001242877:exon19:c.1999-2A>G;NM_001242879:exon17:c.1867-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2077-2A>G;ENST00000351393:exon19:c.1999-2A>G;ENST00000442325:exon21:c.2272-2A>G;ENST00000423854:exon17:c.1867-2A>G;ENST00000539560:exon20:c.2025-2A>G;ENST00000350494:exon19:c.2062-2A>G;ENST00000542824:exon18:c.1867-2A>G;ENST00000540766:exon4:c.254-2A>G)	.	.	0.999989917668626	0.952
18	33750024	A	T	18	36170061	y	y	splicing	ELP2(NM_001242875:exon21:c.2272-2A>T;NM_001242876:exon19:c.2062-2A>T;NM_018255:exon20:c.2077-2A>T;NM_001242878:exon18:c.1867-2A>T;NM_001242877:exon19:c.1999-2A>T;NM_001242879:exon17:c.1867-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2077-2A>T;ENST00000351393:exon19:c.1999-2A>T;ENST00000442325:exon21:c.2272-2A>T;ENST00000423854:exon17:c.1867-2A>T;ENST00000539560:exon20:c.2025-2A>T;ENST00000350494:exon19:c.2062-2A>T;ENST00000542824:exon18:c.1867-2A>T;ENST00000540766:exon4:c.254-2A>T)	.	.	0.999989917668626	0.952
18	33750025	G	A	18	36170062	y	y	splicing	ELP2(NM_001242875:exon21:c.2272-1G>A;NM_001242876:exon19:c.2062-1G>A;NM_018255:exon20:c.2077-1G>A;NM_001242878:exon18:c.1867-1G>A;NM_001242877:exon19:c.1999-1G>A;NM_001242879:exon17:c.1867-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2077-1G>A;ENST00000351393:exon19:c.1999-1G>A;ENST00000442325:exon21:c.2272-1G>A;ENST00000423854:exon17:c.1867-1G>A;ENST00000539560:exon20:c.2025-1G>A;ENST00000350494:exon19:c.2062-1G>A;ENST00000542824:exon18:c.1867-1G>A;ENST00000540766:exon4:c.254-1G>A)	.	.	0.999986675681007	0.956
18	33750025	G	C	18	36170062	y	y	splicing	ELP2(NM_001242875:exon21:c.2272-1G>C;NM_001242876:exon19:c.2062-1G>C;NM_018255:exon20:c.2077-1G>C;NM_001242878:exon18:c.1867-1G>C;NM_001242877:exon19:c.1999-1G>C;NM_001242879:exon17:c.1867-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2077-1G>C;ENST00000351393:exon19:c.1999-1G>C;ENST00000442325:exon21:c.2272-1G>C;ENST00000423854:exon17:c.1867-1G>C;ENST00000539560:exon20:c.2025-1G>C;ENST00000350494:exon19:c.2062-1G>C;ENST00000542824:exon18:c.1867-1G>C;ENST00000540766:exon4:c.254-1G>C)	.	.	0.999986675681007	0.956
18	33750025	G	T	18	36170062	y	y	splicing	ELP2(NM_001242875:exon21:c.2272-1G>T;NM_001242876:exon19:c.2062-1G>T;NM_018255:exon20:c.2077-1G>T;NM_001242878:exon18:c.1867-1G>T;NM_001242877:exon19:c.1999-1G>T;NM_001242879:exon17:c.1867-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2077-1G>T;ENST00000351393:exon19:c.1999-1G>T;ENST00000442325:exon21:c.2272-1G>T;ENST00000423854:exon17:c.1867-1G>T;ENST00000539560:exon20:c.2025-1G>T;ENST00000350494:exon19:c.2062-1G>T;ENST00000542824:exon18:c.1867-1G>T;ENST00000540766:exon4:c.254-1G>T)	.	.	0.999986675681007	0.956
18	33750026	G	A	18	36170063	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.G1867A:p.V623M;ELP2:NM_001242875:exon21:c.G2272A:p.V758M;ELP2:NM_001242878:exon18:c.G1867A:p.V623M;ELP2:NM_018255:exon20:c.G2077A:p.V693M;ELP2:NM_001242876:exon19:c.G2062A:p.V688M;ELP2:NM_001242877:exon19:c.G1999A:p.V667M;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.G1867A:p.V623M;ENSG00000134759:ENST00000351393:exon19:c.G1999A:p.V667M;ENSG00000134759:ENST00000442325:exon21:c.G2272A:p.V758M;ENSG00000134759:ENST00000350494:exon19:c.G2062A:p.V688M;ENSG00000134759:ENST00000423854:exon17:c.G1867A:p.V623M;ENSG00000134759:ENST00000358232:exon20:c.G2077A:p.V693M;	0.999850992581651	0.96
18	33750026	G	C	18	36170063	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.G1867C:p.V623L;ELP2:NM_001242875:exon21:c.G2272C:p.V758L;ELP2:NM_001242878:exon18:c.G1867C:p.V623L;ELP2:NM_018255:exon20:c.G2077C:p.V693L;ELP2:NM_001242876:exon19:c.G2062C:p.V688L;ELP2:NM_001242877:exon19:c.G1999C:p.V667L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.G1867C:p.V623L;ENSG00000134759:ENST00000351393:exon19:c.G1999C:p.V667L;ENSG00000134759:ENST00000442325:exon21:c.G2272C:p.V758L;ENSG00000134759:ENST00000350494:exon19:c.G2062C:p.V688L;ENSG00000134759:ENST00000423854:exon17:c.G1867C:p.V623L;ENSG00000134759:ENST00000358232:exon20:c.G2077C:p.V693L;ENSG00000134759:ENST00000539560:exon20:c.G2025C:p.R675S;	0.999915351488436	0.99
18	33750026	G	T	18	36170063	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.G1867T:p.V623L;ELP2:NM_001242875:exon21:c.G2272T:p.V758L;ELP2:NM_001242878:exon18:c.G1867T:p.V623L;ELP2:NM_018255:exon20:c.G2077T:p.V693L;ELP2:NM_001242876:exon19:c.G2062T:p.V688L;ELP2:NM_001242877:exon19:c.G1999T:p.V667L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.G1867T:p.V623L;ENSG00000134759:ENST00000351393:exon19:c.G1999T:p.V667L;ENSG00000134759:ENST00000442325:exon21:c.G2272T:p.V758L;ENSG00000134759:ENST00000350494:exon19:c.G2062T:p.V688L;ENSG00000134759:ENST00000423854:exon17:c.G1867T:p.V623L;ENSG00000134759:ENST00000358232:exon20:c.G2077T:p.V693L;ENSG00000134759:ENST00000539560:exon20:c.G2025T:p.R675S;	0.999954382899472	0.996
18	33750027	T	A	18	36170064	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.T1868A:p.V623E;ELP2:NM_001242875:exon21:c.T2273A:p.V758E;ELP2:NM_001242878:exon18:c.T1868A:p.V623E;ELP2:NM_018255:exon20:c.T2078A:p.V693E;ELP2:NM_001242876:exon19:c.T2063A:p.V688E;ELP2:NM_001242877:exon19:c.T2000A:p.V667E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.T1868A:p.V623E;ENSG00000134759:ENST00000351393:exon19:c.T2000A:p.V667E;ENSG00000134759:ENST00000442325:exon21:c.T2273A:p.V758E;ENSG00000134759:ENST00000350494:exon19:c.T2063A:p.V688E;ENSG00000134759:ENST00000423854:exon17:c.T1868A:p.V623E;ENSG00000134759:ENST00000358232:exon20:c.T2078A:p.V693E;ENSG00000134759:ENST00000539560:exon20:c.T2026A:p.W676R;	0.42383111072295	0.464
18	33750027	T	C	18	36170064	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.T1868C:p.V623A;ELP2:NM_001242875:exon21:c.T2273C:p.V758A;ELP2:NM_001242878:exon18:c.T1868C:p.V623A;ELP2:NM_018255:exon20:c.T2078C:p.V693A;ELP2:NM_001242876:exon19:c.T2063C:p.V688A;ELP2:NM_001242877:exon19:c.T2000C:p.V667A;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.T1868C:p.V623A;ENSG00000134759:ENST00000351393:exon19:c.T2000C:p.V667A;ENSG00000134759:ENST00000442325:exon21:c.T2273C:p.V758A;ENSG00000134759:ENST00000350494:exon19:c.T2063C:p.V688A;ENSG00000134759:ENST00000423854:exon17:c.T1868C:p.V623A;ENSG00000134759:ENST00000358232:exon20:c.T2078C:p.V693A;ENSG00000134759:ENST00000539560:exon20:c.T2026C:p.W676R;	0.674749379289676	0.476
18	33750027	T	G	18	36170064	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.T1868G:p.V623G;ELP2:NM_001242875:exon21:c.T2273G:p.V758G;ELP2:NM_001242878:exon18:c.T1868G:p.V623G;ELP2:NM_018255:exon20:c.T2078G:p.V693G;ELP2:NM_001242876:exon19:c.T2063G:p.V688G;ELP2:NM_001242877:exon19:c.T2000G:p.V667G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.T1868G:p.V623G;ENSG00000134759:ENST00000351393:exon19:c.T2000G:p.V667G;ENSG00000134759:ENST00000442325:exon21:c.T2273G:p.V758G;ENSG00000134759:ENST00000350494:exon19:c.T2063G:p.V688G;ENSG00000134759:ENST00000423854:exon17:c.T1868G:p.V623G;ENSG00000134759:ENST00000358232:exon20:c.T2078G:p.V693G;ENSG00000134759:ENST00000539560:exon20:c.T2026G:p.W676G;	0.296917478078489	0.274
18	33750157	A	C	18	36170194	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.A1998C:p.Q666H;ELP2:NM_001242875:exon21:c.A2403C:p.Q801H;ELP2:NM_001242878:exon18:c.A1998C:p.Q666H;ELP2:NM_018255:exon20:c.A2208C:p.Q736H;ELP2:NM_001242876:exon19:c.A2193C:p.Q731H;ELP2:NM_001242877:exon19:c.A2130C:p.Q710H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.A1998C:p.Q666H;ENSG00000134759:ENST00000351393:exon19:c.A2130C:p.Q710H;ENSG00000134759:ENST00000442325:exon21:c.A2403C:p.Q801H;ENSG00000134759:ENST00000350494:exon19:c.A2193C:p.Q731H;ENSG00000134759:ENST00000423854:exon17:c.A1998C:p.Q666H;ENSG00000134759:ENST00000358232:exon20:c.A2208C:p.Q736H;	1.97191695480045E-4	0.008
18	33750157	A	G	18	36170194	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon17:c.A1998G:p.Q666Q;ELP2:NM_001242875:exon21:c.A2403G:p.Q801Q;ELP2:NM_001242878:exon18:c.A1998G:p.Q666Q;ELP2:NM_018255:exon20:c.A2208G:p.Q736Q;ELP2:NM_001242876:exon19:c.A2193G:p.Q731Q;ELP2:NM_001242877:exon19:c.A2130G:p.Q710Q;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.A1998G:p.Q666Q;ENSG00000134759:ENST00000351393:exon19:c.A2130G:p.Q710Q;ENSG00000134759:ENST00000442325:exon21:c.A2403G:p.Q801Q;ENSG00000134759:ENST00000350494:exon19:c.A2193G:p.Q731Q;ENSG00000134759:ENST00000423854:exon17:c.A1998G:p.Q666Q;ENSG00000134759:ENST00000358232:exon20:c.A2208G:p.Q736Q;	2.2472780542651E-4	0.052
18	33750157	A	T	18	36170194	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.A1998T:p.Q666H;ELP2:NM_001242875:exon21:c.A2403T:p.Q801H;ELP2:NM_001242878:exon18:c.A1998T:p.Q666H;ELP2:NM_018255:exon20:c.A2208T:p.Q736H;ELP2:NM_001242876:exon19:c.A2193T:p.Q731H;ELP2:NM_001242877:exon19:c.A2130T:p.Q710H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.A1998T:p.Q666H;ENSG00000134759:ENST00000351393:exon19:c.A2130T:p.Q710H;ENSG00000134759:ENST00000442325:exon21:c.A2403T:p.Q801H;ENSG00000134759:ENST00000350494:exon19:c.A2193T:p.Q731H;ENSG00000134759:ENST00000423854:exon17:c.A1998T:p.Q666H;ENSG00000134759:ENST00000358232:exon20:c.A2208T:p.Q736H;	0.00597421177446742	0.14
18	33750158	C	A	18	36170195	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon17:c.C1999A:p.R667R;ELP2:NM_001242875:exon21:c.C2404A:p.R802R;ELP2:NM_001242878:exon18:c.C1999A:p.R667R;ELP2:NM_018255:exon20:c.C2209A:p.R737R;ELP2:NM_001242876:exon19:c.C2194A:p.R732R;ELP2:NM_001242877:exon19:c.C2131A:p.R711R;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.C1999A:p.R667R;ENSG00000134759:ENST00000351393:exon19:c.C2131A:p.R711R;ENSG00000134759:ENST00000442325:exon21:c.C2404A:p.R802R;ENSG00000134759:ENST00000350494:exon19:c.C2194A:p.R732R;ENSG00000134759:ENST00000423854:exon17:c.C1999A:p.R667R;ENSG00000134759:ENST00000358232:exon20:c.C2209A:p.R737R;	4.44614964871315E-5	0.144
18	33750158	C	G	18	36170195	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.C1999G:p.R667G;ELP2:NM_001242875:exon21:c.C2404G:p.R802G;ELP2:NM_001242878:exon18:c.C1999G:p.R667G;ELP2:NM_018255:exon20:c.C2209G:p.R737G;ELP2:NM_001242876:exon19:c.C2194G:p.R732G;ELP2:NM_001242877:exon19:c.C2131G:p.R711G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.C1999G:p.R667G;ENSG00000134759:ENST00000351393:exon19:c.C2131G:p.R711G;ENSG00000134759:ENST00000442325:exon21:c.C2404G:p.R802G;ENSG00000134759:ENST00000350494:exon19:c.C2194G:p.R732G;ENSG00000134759:ENST00000423854:exon17:c.C1999G:p.R667G;ENSG00000134759:ENST00000358232:exon20:c.C2209G:p.R737G;	0.00117142375022207	0.016
18	33750158	C	T	18	36170195	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon17:c.C1999T:p.R667X;ELP2:NM_001242875:exon21:c.C2404T:p.R802X;ELP2:NM_001242878:exon18:c.C1999T:p.R667X;ELP2:NM_018255:exon20:c.C2209T:p.R737X;ELP2:NM_001242876:exon19:c.C2194T:p.R732X;ELP2:NM_001242877:exon19:c.C2131T:p.R711X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon18:c.C1999T:p.R667X;ENSG00000134759:ENST00000351393:exon19:c.C2131T:p.R711X;ENSG00000134759:ENST00000442325:exon21:c.C2404T:p.R802X;ENSG00000134759:ENST00000350494:exon19:c.C2194T:p.R732X;ENSG00000134759:ENST00000423854:exon17:c.C1999T:p.R667X;ENSG00000134759:ENST00000358232:exon20:c.C2209T:p.R737X;	0.00222878578089674	0.39
18	33750159	G	A	18	36170196	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.G2000A:p.R667Q;ELP2:NM_001242875:exon21:c.G2405A:p.R802Q;ELP2:NM_001242878:exon18:c.G2000A:p.R667Q;ELP2:NM_018255:exon20:c.G2210A:p.R737Q;ELP2:NM_001242876:exon19:c.G2195A:p.R732Q;ELP2:NM_001242877:exon19:c.G2132A:p.R711Q;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.G2000A:p.R667Q;ENSG00000134759:ENST00000351393:exon19:c.G2132A:p.R711Q;ENSG00000134759:ENST00000442325:exon21:c.G2405A:p.R802Q;ENSG00000134759:ENST00000350494:exon19:c.G2195A:p.R732Q;ENSG00000134759:ENST00000423854:exon17:c.G2000A:p.R667Q;ENSG00000134759:ENST00000358232:exon20:c.G2210A:p.R737Q;	0.999985720240575	0.996
18	33750159	G	C	18	36170196	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.G2000C:p.R667P;ELP2:NM_001242875:exon21:c.G2405C:p.R802P;ELP2:NM_001242878:exon18:c.G2000C:p.R667P;ELP2:NM_018255:exon20:c.G2210C:p.R737P;ELP2:NM_001242876:exon19:c.G2195C:p.R732P;ELP2:NM_001242877:exon19:c.G2132C:p.R711P;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.G2000C:p.R667P;ENSG00000134759:ENST00000351393:exon19:c.G2132C:p.R711P;ENSG00000134759:ENST00000442325:exon21:c.G2405C:p.R802P;ENSG00000134759:ENST00000350494:exon19:c.G2195C:p.R732P;ENSG00000134759:ENST00000423854:exon17:c.G2000C:p.R667P;ENSG00000134759:ENST00000358232:exon20:c.G2210C:p.R737P;	0.999919817378461	0.976
18	33750159	G	T	18	36170196	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.G2000T:p.R667L;ELP2:NM_001242875:exon21:c.G2405T:p.R802L;ELP2:NM_001242878:exon18:c.G2000T:p.R667L;ELP2:NM_018255:exon20:c.G2210T:p.R737L;ELP2:NM_001242876:exon19:c.G2195T:p.R732L;ELP2:NM_001242877:exon19:c.G2132T:p.R711L;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon18:c.G2000T:p.R667L;ENSG00000134759:ENST00000351393:exon19:c.G2132T:p.R711L;ENSG00000134759:ENST00000442325:exon21:c.G2405T:p.R802L;ENSG00000134759:ENST00000350494:exon19:c.G2195T:p.R732L;ENSG00000134759:ENST00000423854:exon17:c.G2000T:p.R667L;ENSG00000134759:ENST00000358232:exon20:c.G2210T:p.R737L;	0.999929586993387	0.984
18	33750160	G	A	18	36170197	y	y	splicing	ELP2(NM_001242875:exon21:c.2405+1G>A;NM_001242876:exon19:c.2195+1G>A;NM_018255:exon20:c.2210+1G>A;NM_001242878:exon18:c.2000+1G>A;NM_001242877:exon19:c.2132+1G>A;NM_001242879:exon17:c.2000+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2210+1G>A;ENST00000351393:exon19:c.2132+1G>A;ENST00000442325:exon21:c.2405+1G>A;ENST00000423854:exon17:c.2000+1G>A;ENST00000539560:exon20:c.2158+1G>A;ENST00000350494:exon19:c.2195+1G>A;ENST00000542824:exon18:c.2000+1G>A;ENST00000540766:exon4:c.387+1G>A)	.	.	0.999969242257053	0.874
18	33750160	G	C	18	36170197	y	y	splicing	ELP2(NM_001242875:exon21:c.2405+1G>C;NM_001242876:exon19:c.2195+1G>C;NM_018255:exon20:c.2210+1G>C;NM_001242878:exon18:c.2000+1G>C;NM_001242877:exon19:c.2132+1G>C;NM_001242879:exon17:c.2000+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2210+1G>C;ENST00000351393:exon19:c.2132+1G>C;ENST00000442325:exon21:c.2405+1G>C;ENST00000423854:exon17:c.2000+1G>C;ENST00000539560:exon20:c.2158+1G>C;ENST00000350494:exon19:c.2195+1G>C;ENST00000542824:exon18:c.2000+1G>C;ENST00000540766:exon4:c.387+1G>C)	.	.	0.999965143305126	0.872
18	33750160	G	T	18	36170197	y	y	splicing	ELP2(NM_001242875:exon21:c.2405+1G>T;NM_001242876:exon19:c.2195+1G>T;NM_018255:exon20:c.2210+1G>T;NM_001242878:exon18:c.2000+1G>T;NM_001242877:exon19:c.2132+1G>T;NM_001242879:exon17:c.2000+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2210+1G>T;ENST00000351393:exon19:c.2132+1G>T;ENST00000442325:exon21:c.2405+1G>T;ENST00000423854:exon17:c.2000+1G>T;ENST00000539560:exon20:c.2158+1G>T;ENST00000350494:exon19:c.2195+1G>T;ENST00000542824:exon18:c.2000+1G>T;ENST00000540766:exon4:c.387+1G>T)	.	.	0.999968430223941	0.882
18	33750161	T	A	18	36170198	y	y	splicing	ELP2(NM_001242875:exon21:c.2405+2T>A;NM_001242876:exon19:c.2195+2T>A;NM_018255:exon20:c.2210+2T>A;NM_001242878:exon18:c.2000+2T>A;NM_001242877:exon19:c.2132+2T>A;NM_001242879:exon17:c.2000+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2210+2T>A;ENST00000351393:exon19:c.2132+2T>A;ENST00000442325:exon21:c.2405+2T>A;ENST00000423854:exon17:c.2000+2T>A;ENST00000539560:exon20:c.2158+2T>A;ENST00000350494:exon19:c.2195+2T>A;ENST00000542824:exon18:c.2000+2T>A;ENST00000540766:exon4:c.387+2T>A)	.	.	0.999969255906173	0.866
18	33750161	T	C	18	36170198	y	y	splicing	ELP2(NM_001242875:exon21:c.2405+2T>C;NM_001242876:exon19:c.2195+2T>C;NM_018255:exon20:c.2210+2T>C;NM_001242878:exon18:c.2000+2T>C;NM_001242877:exon19:c.2132+2T>C;NM_001242879:exon17:c.2000+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2210+2T>C;ENST00000351393:exon19:c.2132+2T>C;ENST00000442325:exon21:c.2405+2T>C;ENST00000423854:exon17:c.2000+2T>C;ENST00000539560:exon20:c.2158+2T>C;ENST00000350494:exon19:c.2195+2T>C;ENST00000542824:exon18:c.2000+2T>C;ENST00000540766:exon4:c.387+2T>C)	.	.	0.999618857004548	0.85
18	33750161	T	G	18	36170198	y	y	splicing	ELP2(NM_001242875:exon21:c.2405+2T>G;NM_001242876:exon19:c.2195+2T>G;NM_018255:exon20:c.2210+2T>G;NM_001242878:exon18:c.2000+2T>G;NM_001242877:exon19:c.2132+2T>G;NM_001242879:exon17:c.2000+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon20:c.2210+2T>G;ENST00000351393:exon19:c.2132+2T>G;ENST00000442325:exon21:c.2405+2T>G;ENST00000423854:exon17:c.2000+2T>G;ENST00000539560:exon20:c.2158+2T>G;ENST00000350494:exon19:c.2195+2T>G;ENST00000542824:exon18:c.2000+2T>G;ENST00000540766:exon4:c.387+2T>G)	.	.	0.999969255906173	0.842
18	33750162	C	A	18	36170199	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.37816129175048E-4	0.08
18	33750162	C	G	18	36170199	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.12258117786447E-4	0.054
18	33750162	C	T	18	36170199	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.9718009650076E-5	0.002
18	33750163	A	C	18	36170200	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.834994936372041	0.64
18	33750163	A	G	18	36170200	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.862176231558394	0.668
18	33750163	A	T	18	36170200	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.883200030774091	0.682
18	33750164	G	A	18	36170201	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999954391302732	0.968
18	33750164	G	C	18	36170201	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999987846389363	0.964
18	33750164	G	T	18	36170201	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999980760821276	0.962
18	33750165	T	A	18	36170202	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.818546838475621	0.514
18	33750165	T	C	18	36170202	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.930746824833294	0.634
18	33750165	T	G	18	36170202	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.952233858568218	0.668
18	33750166	C	A	18	36170203	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.94716658651354E-5	0.0
18	33750166	C	G	18	36170203	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00105204801349902	0.002
18	33750166	C	T	18	36170203	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.001069401579551	0.074
18	33750167	T	A	18	36170204	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00118566155025353	0.014
18	33750167	T	C	18	36170204	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.7550787912848E-4	0.02
18	33750167	T	G	18	36170204	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0016162491928591	0.074
18	33750998	C	A	18	36171035	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00754814906810379	0.134
18	33750998	C	G	18	36171035	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00289809731301667	0.124
18	33750998	C	T	18	36171035	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.50260996679104E-5	0.02
18	33750999	C	A	18	36171036	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00112144802898504	0.126
18	33750999	C	G	18	36171036	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00140138104790233	0.122
18	33750999	C	T	18	36171036	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.50039710039953E-4	0.288
18	33751000	T	A	18	36171037	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.983630113420521	0.654
18	33751000	T	C	18	36171037	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.92138215810103E-5	0.106
18	33751000	T	G	18	36171037	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.527680964948552	0.548
18	33751001	T	A	18	36171038	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.979494316658587	0.816
18	33751001	T	C	18	36171038	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00103927435267893	0.14
18	33751001	T	G	18	36171038	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.980906923743217	0.792
18	33751002	A	C	18	36171039	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.40562009074537E-5	0.038
18	33751002	A	G	18	36171039	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	6.86186750418056E-5	0.058
18	33751002	A	T	18	36171039	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.16973163498198E-5	0.05
18	33751003	A	C	18	36171040	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00131262574659227	0.044
18	33751003	A	G	18	36171040	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.997427491019015	0.898
18	33751003	A	T	18	36171040	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00181433928758245	0.054
18	33751004	A	C	18	36171041	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.53858124732945E-4	0.058
18	33751004	A	G	18	36171041	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99839300045717	0.908
18	33751004	A	T	18	36171041	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00295493204644536	0.066
18	33751005	A	C	18	36171042	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00274473818779653	0.074
18	33751005	A	G	18	36171042	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998745604614847	0.896
18	33751005	A	T	18	36171042	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	8.1564488928812E-4	0.068
18	33751006	A	C	18	36171043	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.25499202090935E-4	0.024
18	33751006	A	G	18	36171043	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.973059882846642	0.726
18	33751006	A	T	18	36171043	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00277844932954609	0.11
18	33751007	C	A	18	36171044	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.980002846497158	0.846
18	33751007	C	G	18	36171044	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99995586409897	0.888
18	33751007	C	T	18	36171044	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00444254100059819	0.184
18	33751008	A	C	18	36171045	y	y	splicing	ELP2(NM_001242875:exon22:c.2406-2A>C;NM_001242876:exon20:c.2196-2A>C;NM_018255:exon21:c.2211-2A>C;NM_001242878:exon19:c.2001-2A>C;NM_001242877:exon20:c.2133-2A>C;NM_001242879:exon18:c.2001-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2211-2A>C;ENST00000351393:exon20:c.2133-2A>C;ENST00000442325:exon22:c.2406-2A>C;ENST00000423854:exon18:c.2001-2A>C;ENST00000539560:exon21:c.2159-2A>C;ENST00000350494:exon20:c.2196-2A>C;ENST00000542824:exon19:c.2001-2A>C;ENST00000540766:exon5:c.388-2A>C)	.	.	0.999988624979899	0.936
18	33751008	A	G	18	36171045	y	y	splicing	ELP2(NM_001242875:exon22:c.2406-2A>G;NM_001242876:exon20:c.2196-2A>G;NM_018255:exon21:c.2211-2A>G;NM_001242878:exon19:c.2001-2A>G;NM_001242877:exon20:c.2133-2A>G;NM_001242879:exon18:c.2001-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2211-2A>G;ENST00000351393:exon20:c.2133-2A>G;ENST00000442325:exon22:c.2406-2A>G;ENST00000423854:exon18:c.2001-2A>G;ENST00000539560:exon21:c.2159-2A>G;ENST00000350494:exon20:c.2196-2A>G;ENST00000542824:exon19:c.2001-2A>G;ENST00000540766:exon5:c.388-2A>G)	.	.	0.999988624979899	0.936
18	33751008	A	T	18	36171045	y	y	splicing	ELP2(NM_001242875:exon22:c.2406-2A>T;NM_001242876:exon20:c.2196-2A>T;NM_018255:exon21:c.2211-2A>T;NM_001242878:exon19:c.2001-2A>T;NM_001242877:exon20:c.2133-2A>T;NM_001242879:exon18:c.2001-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2211-2A>T;ENST00000351393:exon20:c.2133-2A>T;ENST00000442325:exon22:c.2406-2A>T;ENST00000423854:exon18:c.2001-2A>T;ENST00000539560:exon21:c.2159-2A>T;ENST00000350494:exon20:c.2196-2A>T;ENST00000542824:exon19:c.2001-2A>T;ENST00000540766:exon5:c.388-2A>T)	.	.	0.999988624979899	0.936
18	33751009	G	A	18	36171046	y	y	splicing	ELP2(NM_001242875:exon22:c.2406-1G>A;NM_001242876:exon20:c.2196-1G>A;NM_018255:exon21:c.2211-1G>A;NM_001242878:exon19:c.2001-1G>A;NM_001242877:exon20:c.2133-1G>A;NM_001242879:exon18:c.2001-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2211-1G>A;ENST00000351393:exon20:c.2133-1G>A;ENST00000442325:exon22:c.2406-1G>A;ENST00000423854:exon18:c.2001-1G>A;ENST00000539560:exon21:c.2159-1G>A;ENST00000350494:exon20:c.2196-1G>A;ENST00000542824:exon19:c.2001-1G>A;ENST00000540766:exon5:c.388-1G>A)	.	.	0.999984967332678	0.94
18	33751009	G	C	18	36171046	y	y	splicing	ELP2(NM_001242875:exon22:c.2406-1G>C;NM_001242876:exon20:c.2196-1G>C;NM_018255:exon21:c.2211-1G>C;NM_001242878:exon19:c.2001-1G>C;NM_001242877:exon20:c.2133-1G>C;NM_001242879:exon18:c.2001-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2211-1G>C;ENST00000351393:exon20:c.2133-1G>C;ENST00000442325:exon22:c.2406-1G>C;ENST00000423854:exon18:c.2001-1G>C;ENST00000539560:exon21:c.2159-1G>C;ENST00000350494:exon20:c.2196-1G>C;ENST00000542824:exon19:c.2001-1G>C;ENST00000540766:exon5:c.388-1G>C)	.	.	0.999984967332678	0.94
18	33751009	G	T	18	36171046	y	y	splicing	ELP2(NM_001242875:exon22:c.2406-1G>T;NM_001242876:exon20:c.2196-1G>T;NM_018255:exon21:c.2211-1G>T;NM_001242878:exon19:c.2001-1G>T;NM_001242877:exon20:c.2133-1G>T;NM_001242879:exon18:c.2001-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2211-1G>T;ENST00000351393:exon20:c.2133-1G>T;ENST00000442325:exon22:c.2406-1G>T;ENST00000423854:exon18:c.2001-1G>T;ENST00000539560:exon21:c.2159-1G>T;ENST00000350494:exon20:c.2196-1G>T;ENST00000542824:exon19:c.2001-1G>T;ENST00000540766:exon5:c.388-1G>T)	.	.	0.999984967332678	0.94
18	33751010	A	C	18	36171047	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon18:c.A2001C:p.R667R;ELP2:NM_001242875:exon22:c.A2406C:p.R802R;ELP2:NM_001242878:exon19:c.A2001C:p.R667R;ELP2:NM_018255:exon21:c.A2211C:p.R737R;ELP2:NM_001242876:exon20:c.A2196C:p.R732R;ELP2:NM_001242877:exon20:c.A2133C:p.R711R;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2001C:p.R667R;ENSG00000134759:ENST00000351393:exon20:c.A2133C:p.R711R;ENSG00000134759:ENST00000442325:exon22:c.A2406C:p.R802R;ENSG00000134759:ENST00000350494:exon20:c.A2196C:p.R732R;ENSG00000134759:ENST00000423854:exon18:c.A2001C:p.R667R;ENSG00000134759:ENST00000358232:exon21:c.A2211C:p.R737R;	2.00264317153215E-4	0.13
18	33751010	A	G	18	36171047	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon18:c.A2001G:p.R667R;ELP2:NM_001242875:exon22:c.A2406G:p.R802R;ELP2:NM_001242878:exon19:c.A2001G:p.R667R;ELP2:NM_018255:exon21:c.A2211G:p.R737R;ELP2:NM_001242876:exon20:c.A2196G:p.R732R;ELP2:NM_001242877:exon20:c.A2133G:p.R711R;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2001G:p.R667R;ENSG00000134759:ENST00000351393:exon20:c.A2133G:p.R711R;ENSG00000134759:ENST00000442325:exon22:c.A2406G:p.R802R;ENSG00000134759:ENST00000350494:exon20:c.A2196G:p.R732R;ENSG00000134759:ENST00000423854:exon18:c.A2001G:p.R667R;ENSG00000134759:ENST00000358232:exon21:c.A2211G:p.R737R;	3.75243452381329E-5	0.068
18	33751010	A	T	18	36171047	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon18:c.A2001T:p.R667R;ELP2:NM_001242875:exon22:c.A2406T:p.R802R;ELP2:NM_001242878:exon19:c.A2001T:p.R667R;ELP2:NM_018255:exon21:c.A2211T:p.R737R;ELP2:NM_001242876:exon20:c.A2196T:p.R732R;ELP2:NM_001242877:exon20:c.A2133T:p.R711R;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2001T:p.R667R;ENSG00000134759:ENST00000351393:exon20:c.A2133T:p.R711R;ENSG00000134759:ENST00000442325:exon22:c.A2406T:p.R802R;ENSG00000134759:ENST00000350494:exon20:c.A2196T:p.R732R;ENSG00000134759:ENST00000423854:exon18:c.A2001T:p.R667R;ENSG00000134759:ENST00000358232:exon21:c.A2211T:p.R737R;	3.64897666383428E-4	0.128
18	33751011	T	A	18	36171048	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.T2002A:p.Y668N;ELP2:NM_001242875:exon22:c.T2407A:p.Y803N;ELP2:NM_001242878:exon19:c.T2002A:p.Y668N;ELP2:NM_018255:exon21:c.T2212A:p.Y738N;ELP2:NM_001242876:exon20:c.T2197A:p.Y733N;ELP2:NM_001242877:exon20:c.T2134A:p.Y712N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.T2002A:p.Y668N;ENSG00000134759:ENST00000351393:exon20:c.T2134A:p.Y712N;ENSG00000134759:ENST00000442325:exon22:c.T2407A:p.Y803N;ENSG00000134759:ENST00000350494:exon20:c.T2197A:p.Y733N;ENSG00000134759:ENST00000423854:exon18:c.T2002A:p.Y668N;ENSG00000134759:ENST00000358232:exon21:c.T2212A:p.Y738N;	0.0158356515281012	0.16
18	33751011	T	C	18	36171048	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.T2002C:p.Y668H;ELP2:NM_001242875:exon22:c.T2407C:p.Y803H;ELP2:NM_001242878:exon19:c.T2002C:p.Y668H;ELP2:NM_018255:exon21:c.T2212C:p.Y738H;ELP2:NM_001242876:exon20:c.T2197C:p.Y733H;ELP2:NM_001242877:exon20:c.T2134C:p.Y712H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.T2002C:p.Y668H;ENSG00000134759:ENST00000351393:exon20:c.T2134C:p.Y712H;ENSG00000134759:ENST00000442325:exon22:c.T2407C:p.Y803H;ENSG00000134759:ENST00000350494:exon20:c.T2197C:p.Y733H;ENSG00000134759:ENST00000423854:exon18:c.T2002C:p.Y668H;ENSG00000134759:ENST00000358232:exon21:c.T2212C:p.Y738H;	0.00331534744544651	0.118
18	33751011	T	G	18	36171048	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.T2002G:p.Y668D;ELP2:NM_001242875:exon22:c.T2407G:p.Y803D;ELP2:NM_001242878:exon19:c.T2002G:p.Y668D;ELP2:NM_018255:exon21:c.T2212G:p.Y738D;ELP2:NM_001242876:exon20:c.T2197G:p.Y733D;ELP2:NM_001242877:exon20:c.T2134G:p.Y712D;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.T2002G:p.Y668D;ENSG00000134759:ENST00000351393:exon20:c.T2134G:p.Y712D;ENSG00000134759:ENST00000442325:exon22:c.T2407G:p.Y803D;ENSG00000134759:ENST00000350494:exon20:c.T2197G:p.Y733D;ENSG00000134759:ENST00000423854:exon18:c.T2002G:p.Y668D;ENSG00000134759:ENST00000358232:exon21:c.T2212G:p.Y738D;	0.00327060877873772	0.12
18	33751121	A	C	18	36171158	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.A2112C:p.Q704H;ELP2:NM_001242875:exon22:c.A2517C:p.Q839H;ELP2:NM_001242878:exon19:c.A2112C:p.Q704H;ELP2:NM_018255:exon21:c.A2322C:p.Q774H;ELP2:NM_001242876:exon20:c.A2307C:p.Q769H;ELP2:NM_001242877:exon20:c.A2244C:p.Q748H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2112C:p.Q704H;ENSG00000134759:ENST00000351393:exon20:c.A2244C:p.Q748H;ENSG00000134759:ENST00000442325:exon22:c.A2517C:p.Q839H;ENSG00000134759:ENST00000350494:exon20:c.A2307C:p.Q769H;ENSG00000134759:ENST00000423854:exon18:c.A2112C:p.Q704H;ENSG00000134759:ENST00000358232:exon21:c.A2322C:p.Q774H;	0.00546012094817896	0.038
18	33751121	A	G	18	36171158	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon18:c.A2112G:p.Q704Q;ELP2:NM_001242875:exon22:c.A2517G:p.Q839Q;ELP2:NM_001242878:exon19:c.A2112G:p.Q704Q;ELP2:NM_018255:exon21:c.A2322G:p.Q774Q;ELP2:NM_001242876:exon20:c.A2307G:p.Q769Q;ELP2:NM_001242877:exon20:c.A2244G:p.Q748Q;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2112G:p.Q704Q;ENSG00000134759:ENST00000351393:exon20:c.A2244G:p.Q748Q;ENSG00000134759:ENST00000442325:exon22:c.A2517G:p.Q839Q;ENSG00000134759:ENST00000350494:exon20:c.A2307G:p.Q769Q;ENSG00000134759:ENST00000423854:exon18:c.A2112G:p.Q704Q;ENSG00000134759:ENST00000358232:exon21:c.A2322G:p.Q774Q;	0.00117112222636543	0.036
18	33751121	A	T	18	36171158	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.A2112T:p.Q704H;ELP2:NM_001242875:exon22:c.A2517T:p.Q839H;ELP2:NM_001242878:exon19:c.A2112T:p.Q704H;ELP2:NM_018255:exon21:c.A2322T:p.Q774H;ELP2:NM_001242876:exon20:c.A2307T:p.Q769H;ELP2:NM_001242877:exon20:c.A2244T:p.Q748H;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2112T:p.Q704H;ENSG00000134759:ENST00000351393:exon20:c.A2244T:p.Q748H;ENSG00000134759:ENST00000442325:exon22:c.A2517T:p.Q839H;ENSG00000134759:ENST00000350494:exon20:c.A2307T:p.Q769H;ENSG00000134759:ENST00000423854:exon18:c.A2112T:p.Q704H;ENSG00000134759:ENST00000358232:exon21:c.A2322T:p.Q774H;	0.960801576215435	0.608
18	33751122	A	C	18	36171159	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.A2113C:p.S705R;ELP2:NM_001242875:exon22:c.A2518C:p.S840R;ELP2:NM_001242878:exon19:c.A2113C:p.S705R;ELP2:NM_018255:exon21:c.A2323C:p.S775R;ELP2:NM_001242876:exon20:c.A2308C:p.S770R;ELP2:NM_001242877:exon20:c.A2245C:p.S749R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2113C:p.S705R;ENSG00000134759:ENST00000351393:exon20:c.A2245C:p.S749R;ENSG00000134759:ENST00000442325:exon22:c.A2518C:p.S840R;ENSG00000134759:ENST00000350494:exon20:c.A2308C:p.S770R;ENSG00000134759:ENST00000423854:exon18:c.A2113C:p.S705R;ENSG00000134759:ENST00000358232:exon21:c.A2323C:p.S775R;	0.998734046780109	0.994
18	33751122	A	G	18	36171159	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.A2113G:p.S705G;ELP2:NM_001242875:exon22:c.A2518G:p.S840G;ELP2:NM_001242878:exon19:c.A2113G:p.S705G;ELP2:NM_018255:exon21:c.A2323G:p.S775G;ELP2:NM_001242876:exon20:c.A2308G:p.S770G;ELP2:NM_001242877:exon20:c.A2245G:p.S749G;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2113G:p.S705G;ENSG00000134759:ENST00000351393:exon20:c.A2245G:p.S749G;ENSG00000134759:ENST00000442325:exon22:c.A2518G:p.S840G;ENSG00000134759:ENST00000350494:exon20:c.A2308G:p.S770G;ENSG00000134759:ENST00000423854:exon18:c.A2113G:p.S705G;ENSG00000134759:ENST00000358232:exon21:c.A2323G:p.S775G;	0.999174955495431	0.988
18	33751122	A	T	18	36171159	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.A2113T:p.S705C;ELP2:NM_001242875:exon22:c.A2518T:p.S840C;ELP2:NM_001242878:exon19:c.A2113T:p.S705C;ELP2:NM_018255:exon21:c.A2323T:p.S775C;ELP2:NM_001242876:exon20:c.A2308T:p.S770C;ELP2:NM_001242877:exon20:c.A2245T:p.S749C;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.A2113T:p.S705C;ENSG00000134759:ENST00000351393:exon20:c.A2245T:p.S749C;ENSG00000134759:ENST00000442325:exon22:c.A2518T:p.S840C;ENSG00000134759:ENST00000350494:exon20:c.A2308T:p.S770C;ENSG00000134759:ENST00000423854:exon18:c.A2113T:p.S705C;ENSG00000134759:ENST00000358232:exon21:c.A2323T:p.S775C;	0.998140395230575	0.956
18	33751123	G	A	18	36171160	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.G2114A:p.S705N;ELP2:NM_001242875:exon22:c.G2519A:p.S840N;ELP2:NM_001242878:exon19:c.G2114A:p.S705N;ELP2:NM_018255:exon21:c.G2324A:p.S775N;ELP2:NM_001242876:exon20:c.G2309A:p.S770N;ELP2:NM_001242877:exon20:c.G2246A:p.S749N;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.G2114A:p.S705N;ENSG00000134759:ENST00000351393:exon20:c.G2246A:p.S749N;ENSG00000134759:ENST00000442325:exon22:c.G2519A:p.S840N;ENSG00000134759:ENST00000350494:exon20:c.G2309A:p.S770N;ENSG00000134759:ENST00000423854:exon18:c.G2114A:p.S705N;ENSG00000134759:ENST00000358232:exon21:c.G2324A:p.S775N;	0.999980770198682	0.992
18	33751123	G	C	18	36171160	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.G2114C:p.S705T;ELP2:NM_001242875:exon22:c.G2519C:p.S840T;ELP2:NM_001242878:exon19:c.G2114C:p.S705T;ELP2:NM_018255:exon21:c.G2324C:p.S775T;ELP2:NM_001242876:exon20:c.G2309C:p.S770T;ELP2:NM_001242877:exon20:c.G2246C:p.S749T;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.G2114C:p.S705T;ENSG00000134759:ENST00000351393:exon20:c.G2246C:p.S749T;ENSG00000134759:ENST00000442325:exon22:c.G2519C:p.S840T;ENSG00000134759:ENST00000350494:exon20:c.G2309C:p.S770T;ENSG00000134759:ENST00000423854:exon18:c.G2114C:p.S705T;ENSG00000134759:ENST00000358232:exon21:c.G2324C:p.S775T;	0.999988972713866	0.984
18	33751123	G	T	18	36171160	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon18:c.G2114T:p.S705I;ELP2:NM_001242875:exon22:c.G2519T:p.S840I;ELP2:NM_001242878:exon19:c.G2114T:p.S705I;ELP2:NM_018255:exon21:c.G2324T:p.S775I;ELP2:NM_001242876:exon20:c.G2309T:p.S770I;ELP2:NM_001242877:exon20:c.G2246T:p.S749I;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon19:c.G2114T:p.S705I;ENSG00000134759:ENST00000351393:exon20:c.G2246T:p.S749I;ENSG00000134759:ENST00000442325:exon22:c.G2519T:p.S840I;ENSG00000134759:ENST00000350494:exon20:c.G2309T:p.S770I;ENSG00000134759:ENST00000423854:exon18:c.G2114T:p.S705I;ENSG00000134759:ENST00000358232:exon21:c.G2324T:p.S775I;	0.999993456460832	0.97
18	33751124	G	A	18	36171161	y	y	splicing	ELP2(NM_001242875:exon22:c.2519+1G>A;NM_001242876:exon20:c.2309+1G>A;NM_018255:exon21:c.2324+1G>A;NM_001242878:exon19:c.2114+1G>A;NM_001242877:exon20:c.2246+1G>A;NM_001242879:exon18:c.2114+1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2324+1G>A;ENST00000351393:exon20:c.2246+1G>A;ENST00000442325:exon22:c.2519+1G>A;ENST00000423854:exon18:c.2114+1G>A;ENST00000539560:exon21:c.2272+1G>A;ENST00000350494:exon20:c.2309+1G>A;ENST00000542824:exon19:c.2114+1G>A;ENST00000540766:exon5:c.501+1G>A)	.	.	0.999986675681007	0.928
18	33751124	G	C	18	36171161	y	y	splicing	ELP2(NM_001242875:exon22:c.2519+1G>C;NM_001242876:exon20:c.2309+1G>C;NM_018255:exon21:c.2324+1G>C;NM_001242878:exon19:c.2114+1G>C;NM_001242877:exon20:c.2246+1G>C;NM_001242879:exon18:c.2114+1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2324+1G>C;ENST00000351393:exon20:c.2246+1G>C;ENST00000442325:exon22:c.2519+1G>C;ENST00000423854:exon18:c.2114+1G>C;ENST00000539560:exon21:c.2272+1G>C;ENST00000350494:exon20:c.2309+1G>C;ENST00000542824:exon19:c.2114+1G>C;ENST00000540766:exon5:c.501+1G>C)	.	.	0.999986675681007	0.926
18	33751124	G	T	18	36171161	y	y	splicing	ELP2(NM_001242875:exon22:c.2519+1G>T;NM_001242876:exon20:c.2309+1G>T;NM_018255:exon21:c.2324+1G>T;NM_001242878:exon19:c.2114+1G>T;NM_001242877:exon20:c.2246+1G>T;NM_001242879:exon18:c.2114+1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2324+1G>T;ENST00000351393:exon20:c.2246+1G>T;ENST00000442325:exon22:c.2519+1G>T;ENST00000423854:exon18:c.2114+1G>T;ENST00000539560:exon21:c.2272+1G>T;ENST00000350494:exon20:c.2309+1G>T;ENST00000542824:exon19:c.2114+1G>T;ENST00000540766:exon5:c.501+1G>T)	.	.	0.999986675681007	0.926
18	33751125	T	A	18	36171162	y	y	splicing	ELP2(NM_001242875:exon22:c.2519+2T>A;NM_001242876:exon20:c.2309+2T>A;NM_018255:exon21:c.2324+2T>A;NM_001242878:exon19:c.2114+2T>A;NM_001242877:exon20:c.2246+2T>A;NM_001242879:exon18:c.2114+2T>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2324+2T>A;ENST00000351393:exon20:c.2246+2T>A;ENST00000442325:exon22:c.2519+2T>A;ENST00000423854:exon18:c.2114+2T>A;ENST00000539560:exon21:c.2272+2T>A;ENST00000350494:exon20:c.2309+2T>A;ENST00000542824:exon19:c.2114+2T>A;ENST00000540766:exon5:c.501+2T>A)	.	.	0.999989917668626	0.922
18	33751125	T	C	18	36171162	y	y	splicing	ELP2(NM_001242875:exon22:c.2519+2T>C;NM_001242876:exon20:c.2309+2T>C;NM_018255:exon21:c.2324+2T>C;NM_001242878:exon19:c.2114+2T>C;NM_001242877:exon20:c.2246+2T>C;NM_001242879:exon18:c.2114+2T>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2324+2T>C;ENST00000351393:exon20:c.2246+2T>C;ENST00000442325:exon22:c.2519+2T>C;ENST00000423854:exon18:c.2114+2T>C;ENST00000539560:exon21:c.2272+2T>C;ENST00000350494:exon20:c.2309+2T>C;ENST00000542824:exon19:c.2114+2T>C;ENST00000540766:exon5:c.501+2T>C)	.	.	0.988042962918841	0.604
18	33751125	T	G	18	36171162	y	y	splicing	ELP2(NM_001242875:exon22:c.2519+2T>G;NM_001242876:exon20:c.2309+2T>G;NM_018255:exon21:c.2324+2T>G;NM_001242878:exon19:c.2114+2T>G;NM_001242877:exon20:c.2246+2T>G;NM_001242879:exon18:c.2114+2T>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon21:c.2324+2T>G;ENST00000351393:exon20:c.2246+2T>G;ENST00000442325:exon22:c.2519+2T>G;ENST00000423854:exon18:c.2114+2T>G;ENST00000539560:exon21:c.2272+2T>G;ENST00000350494:exon20:c.2309+2T>G;ENST00000542824:exon19:c.2114+2T>G;ENST00000540766:exon5:c.501+2T>G)	.	.	0.999989917668626	0.908
18	33751126	A	C	18	36171163	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99994891246274	0.962
18	33751126	A	G	18	36171163	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999718208717745	0.892
18	33751126	A	T	18	36171163	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.99936108483754	0.922
18	33751127	T	A	18	36171164	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.66150994967303E-5	0.014
18	33751127	T	C	18	36171164	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.92357872056649E-5	0.02
18	33751127	T	G	18	36171164	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.34325594113894E-5	0.0
18	33751128	T	A	18	36171165	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00438504148049319	0.024
18	33751128	T	C	18	36171165	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00384940009661062	0.074
18	33751128	T	G	18	36171165	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	5.10858918985403E-4	0.062
18	33751129	T	A	18	36171166	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.038116068981755	0.142
18	33751129	T	C	18	36171166	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0418814634877719	0.238
18	33751129	T	G	18	36171166	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00108838400095841	0.136
18	33751130	C	A	18	36171167	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.94013747355318E-4	0.0
18	33751130	C	G	18	36171167	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.50644441913227E-5	0.002
18	33751130	C	T	18	36171167	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.02604050547302E-4	0.008
18	33751131	T	A	18	36171168	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	3.9243603833315E-4	0.156
18	33751131	T	C	18	36171168	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.09211618299554E-4	0.012
18	33751131	T	G	18	36171168	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00116154349368919	0.202
18	33754436	T	A	18	36174473	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.961388647058149	0.708
18	33754436	T	C	18	36174473	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00796921573655794	0.056
18	33754436	T	G	18	36174473	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999861189993805	0.96
18	33754437	C	A	18	36174474	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0298169197983708	0.212
18	33754437	C	G	18	36174474	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0538377536510331	0.106
18	33754437	C	T	18	36174474	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0123347816127285	0.114
18	33754438	T	A	18	36174475	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.873901750697937	0.558
18	33754438	T	C	18	36174475	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00378672776405778	0.052
18	33754438	T	G	18	36174475	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.779147532444796	0.538
18	33754439	T	A	18	36174476	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.845998493018227	0.534
18	33754439	T	C	18	36174476	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.3232130105272E-4	0.084
18	33754439	T	G	18	36174476	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.796764038243475	0.484
18	33754440	T	A	18	36174477	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999873784970907	0.99
18	33754440	T	C	18	36174477	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0028885873711693	0.05
18	33754440	T	G	18	36174477	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.865808808555427	0.58
18	33754441	G	A	18	36174478	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.61889609313707E-4	0.006
18	33754441	G	C	18	36174478	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	9.5041162428214E-5	0.002
18	33754441	G	T	18	36174478	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	7.30891609700523E-5	0.012
18	33754442	T	A	18	36174479	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.992503461654274	0.794
18	33754442	T	C	18	36174479	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.00762570565391671	0.24
18	33754442	T	G	18	36174479	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.974536863292057	0.818
18	33754443	T	A	18	36174480	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.999228416435038	0.938
18	33754443	T	C	18	36174480	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.495851624215612	0.38
18	33754443	T	G	18	36174480	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.998687293680194	0.946
18	33754444	T	A	18	36174481	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	4.84103681910635E-4	0.01
18	33754444	T	C	18	36174481	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.70960105660354E-4	0.004
18	33754444	T	G	18	36174481	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	2.02897816581431E-4	0.004
18	33754445	T	A	18	36174482	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.0400346450937104	0.296
18	33754445	T	C	18	36174482	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	1.13356254610956E-4	0.006
18	33754445	T	G	18	36174482	y	y	intronic	ELP2	.	.	intronic	ENSG00000134759	.	.	0.994770456993352	0.744
18	33754446	A	C	18	36174483	y	y	splicing	ELP2(NM_001242875:exon23:c.2520-2A>C;NM_001242876:exon21:c.2310-2A>C;NM_018255:exon22:c.2325-2A>C;NM_001242878:exon20:c.2115-2A>C;NM_001242877:exon21:c.2247-2A>C;NM_001242879:exon19:c.2115-2A>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon22:c.2325-2A>C;ENST00000351393:exon21:c.2247-2A>C;ENST00000442325:exon23:c.2520-2A>C;ENST00000423854:exon19:c.2115-2A>C;ENST00000539560:exon22:c.2273-2A>C;ENST00000350494:exon21:c.2310-2A>C;ENST00000542824:exon20:c.2115-2A>C;ENST00000540766:exon6:c.502-2A>C)	.	.	0.999988247793601	0.93
18	33754446	A	G	18	36174483	y	y	splicing	ELP2(NM_001242875:exon23:c.2520-2A>G;NM_001242876:exon21:c.2310-2A>G;NM_018255:exon22:c.2325-2A>G;NM_001242878:exon20:c.2115-2A>G;NM_001242877:exon21:c.2247-2A>G;NM_001242879:exon19:c.2115-2A>G)	.	.	splicing	ENSG00000134759(ENST00000358232:exon22:c.2325-2A>G;ENST00000351393:exon21:c.2247-2A>G;ENST00000442325:exon23:c.2520-2A>G;ENST00000423854:exon19:c.2115-2A>G;ENST00000539560:exon22:c.2273-2A>G;ENST00000350494:exon21:c.2310-2A>G;ENST00000542824:exon20:c.2115-2A>G;ENST00000540766:exon6:c.502-2A>G)	.	.	0.999988247793601	0.93
18	33754446	A	T	18	36174483	y	y	splicing	ELP2(NM_001242875:exon23:c.2520-2A>T;NM_001242876:exon21:c.2310-2A>T;NM_018255:exon22:c.2325-2A>T;NM_001242878:exon20:c.2115-2A>T;NM_001242877:exon21:c.2247-2A>T;NM_001242879:exon19:c.2115-2A>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon22:c.2325-2A>T;ENST00000351393:exon21:c.2247-2A>T;ENST00000442325:exon23:c.2520-2A>T;ENST00000423854:exon19:c.2115-2A>T;ENST00000539560:exon22:c.2273-2A>T;ENST00000350494:exon21:c.2310-2A>T;ENST00000542824:exon20:c.2115-2A>T;ENST00000540766:exon6:c.502-2A>T)	.	.	0.999988247793601	0.93
18	33754447	G	A	18	36174484	y	y	splicing	ELP2(NM_001242875:exon23:c.2520-1G>A;NM_001242876:exon21:c.2310-1G>A;NM_018255:exon22:c.2325-1G>A;NM_001242878:exon20:c.2115-1G>A;NM_001242877:exon21:c.2247-1G>A;NM_001242879:exon19:c.2115-1G>A)	.	.	splicing	ENSG00000134759(ENST00000358232:exon22:c.2325-1G>A;ENST00000351393:exon21:c.2247-1G>A;ENST00000442325:exon23:c.2520-1G>A;ENST00000423854:exon19:c.2115-1G>A;ENST00000539560:exon22:c.2273-1G>A;ENST00000350494:exon21:c.2310-1G>A;ENST00000542824:exon20:c.2115-1G>A;ENST00000540766:exon6:c.502-1G>A)	.	.	0.999989072007339	0.932
18	33754447	G	C	18	36174484	y	y	splicing	ELP2(NM_001242875:exon23:c.2520-1G>C;NM_001242876:exon21:c.2310-1G>C;NM_018255:exon22:c.2325-1G>C;NM_001242878:exon20:c.2115-1G>C;NM_001242877:exon21:c.2247-1G>C;NM_001242879:exon19:c.2115-1G>C)	.	.	splicing	ENSG00000134759(ENST00000358232:exon22:c.2325-1G>C;ENST00000351393:exon21:c.2247-1G>C;ENST00000442325:exon23:c.2520-1G>C;ENST00000423854:exon19:c.2115-1G>C;ENST00000539560:exon22:c.2273-1G>C;ENST00000350494:exon21:c.2310-1G>C;ENST00000542824:exon20:c.2115-1G>C;ENST00000540766:exon6:c.502-1G>C)	.	.	0.999989072007339	0.934
18	33754447	G	T	18	36174484	y	y	splicing	ELP2(NM_001242875:exon23:c.2520-1G>T;NM_001242876:exon21:c.2310-1G>T;NM_018255:exon22:c.2325-1G>T;NM_001242878:exon20:c.2115-1G>T;NM_001242877:exon21:c.2247-1G>T;NM_001242879:exon19:c.2115-1G>T)	.	.	splicing	ENSG00000134759(ENST00000358232:exon22:c.2325-1G>T;ENST00000351393:exon21:c.2247-1G>T;ENST00000442325:exon23:c.2520-1G>T;ENST00000423854:exon19:c.2115-1G>T;ENST00000539560:exon22:c.2273-1G>T;ENST00000350494:exon21:c.2310-1G>T;ENST00000542824:exon20:c.2115-1G>T;ENST00000540766:exon6:c.502-1G>T)	.	.	0.999989072007339	0.934
18	33754448	C	A	18	36174485	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon19:c.C2115A:p.S705R;ELP2:NM_001242875:exon23:c.C2520A:p.S840R;ELP2:NM_001242878:exon20:c.C2115A:p.S705R;ELP2:NM_018255:exon22:c.C2325A:p.S775R;ELP2:NM_001242876:exon21:c.C2310A:p.S770R;ELP2:NM_001242877:exon21:c.C2247A:p.S749R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon20:c.C2115A:p.S705R;ENSG00000134759:ENST00000351393:exon21:c.C2247A:p.S749R;ENSG00000134759:ENST00000442325:exon23:c.C2520A:p.S840R;ENSG00000134759:ENST00000350494:exon21:c.C2310A:p.S770R;ENSG00000134759:ENST00000423854:exon19:c.C2115A:p.S705R;ENSG00000134759:ENST00000358232:exon22:c.C2325A:p.S775R;	0.532413620679503	0.558
18	33754448	C	G	18	36174485	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon19:c.C2115G:p.S705R;ELP2:NM_001242875:exon23:c.C2520G:p.S840R;ELP2:NM_001242878:exon20:c.C2115G:p.S705R;ELP2:NM_018255:exon22:c.C2325G:p.S775R;ELP2:NM_001242876:exon21:c.C2310G:p.S770R;ELP2:NM_001242877:exon21:c.C2247G:p.S749R;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon20:c.C2115G:p.S705R;ENSG00000134759:ENST00000351393:exon21:c.C2247G:p.S749R;ENSG00000134759:ENST00000442325:exon23:c.C2520G:p.S840R;ENSG00000134759:ENST00000350494:exon21:c.C2310G:p.S770R;ENSG00000134759:ENST00000423854:exon19:c.C2115G:p.S705R;ENSG00000134759:ENST00000358232:exon22:c.C2325G:p.S775R;	0.463676614219933	0.392
18	33754448	C	T	18	36174485	y	y	exonic	ELP2	synonymous SNV	ELP2:NM_001242879:exon19:c.C2115T:p.S705S;ELP2:NM_001242875:exon23:c.C2520T:p.S840S;ELP2:NM_001242878:exon20:c.C2115T:p.S705S;ELP2:NM_018255:exon22:c.C2325T:p.S775S;ELP2:NM_001242876:exon21:c.C2310T:p.S770S;ELP2:NM_001242877:exon21:c.C2247T:p.S749S;	exonic	ENSG00000134759	synonymous SNV	ENSG00000134759:ENST00000542824:exon20:c.C2115T:p.S705S;ENSG00000134759:ENST00000351393:exon21:c.C2247T:p.S749S;ENSG00000134759:ENST00000442325:exon23:c.C2520T:p.S840S;ENSG00000134759:ENST00000350494:exon21:c.C2310T:p.S770S;ENSG00000134759:ENST00000423854:exon19:c.C2115T:p.S705S;ENSG00000134759:ENST00000358232:exon22:c.C2325T:p.S775S;	0.047098669517064	0.254
18	33754449	C	A	18	36174486	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon19:c.C2116A:p.Q706K;ELP2:NM_001242875:exon23:c.C2521A:p.Q841K;ELP2:NM_001242878:exon20:c.C2116A:p.Q706K;ELP2:NM_018255:exon22:c.C2326A:p.Q776K;ELP2:NM_001242876:exon21:c.C2311A:p.Q771K;ELP2:NM_001242877:exon21:c.C2248A:p.Q750K;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon20:c.C2116A:p.Q706K;ENSG00000134759:ENST00000351393:exon21:c.C2248A:p.Q750K;ENSG00000134759:ENST00000442325:exon23:c.C2521A:p.Q841K;ENSG00000134759:ENST00000350494:exon21:c.C2311A:p.Q771K;ENSG00000134759:ENST00000423854:exon19:c.C2116A:p.Q706K;ENSG00000134759:ENST00000358232:exon22:c.C2326A:p.Q776K;	9.0801206024192E-4	0.098
18	33754449	C	G	18	36174486	y	y	exonic	ELP2	nonsynonymous SNV	ELP2:NM_001242879:exon19:c.C2116G:p.Q706E;ELP2:NM_001242875:exon23:c.C2521G:p.Q841E;ELP2:NM_001242878:exon20:c.C2116G:p.Q706E;ELP2:NM_018255:exon22:c.C2326G:p.Q776E;ELP2:NM_001242876:exon21:c.C2311G:p.Q771E;ELP2:NM_001242877:exon21:c.C2248G:p.Q750E;	exonic	ENSG00000134759	nonsynonymous SNV	ENSG00000134759:ENST00000542824:exon20:c.C2116G:p.Q706E;ENSG00000134759:ENST00000351393:exon21:c.C2248G:p.Q750E;ENSG00000134759:ENST00000442325:exon23:c.C2521G:p.Q841E;ENSG00000134759:ENST00000350494:exon21:c.C2311G:p.Q771E;ENSG00000134759:ENST00000423854:exon19:c.C2116G:p.Q706E;ENSG00000134759:ENST00000358232:exon22:c.C2326G:p.Q776E;	4.83488145879691E-4	0.066
18	33754449	C	T	18	36174486	y	y	exonic	ELP2	stopgain SNV	ELP2:NM_001242879:exon19:c.C2116T:p.Q706X;ELP2:NM_001242875:exon23:c.C2521T:p.Q841X;ELP2:NM_001242878:exon20:c.C2116T:p.Q706X;ELP2:NM_018255:exon22:c.C2326T:p.Q776X;ELP2:NM_001242876:exon21:c.C2311T:p.Q771X;ELP2:NM_001242877:exon21:c.C2248T:p.Q750X;	exonic	ENSG00000134759	stopgain SNV	ENSG00000134759:ENST00000542824:exon20:c.C2116T:p.Q706X;ENSG00000134759:ENST00000351393:exon21:c.C2248T:p.Q750X;ENSG00000134759:ENST00000442325:exon23:c.C2521T:p.Q841X;ENSG00000134759:ENST00000350494:exon21:c.C2311T:p.Q771X;ENSG00000134759:ENST00000423854:exon19:c.C2116T:p.Q706X;ENSG00000134759:ENST00000358232:exon22:c.C2326T:p.Q776X;	0.104107393826049	0.522
18	33767642	C	A	18	36187679	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon1:c.C140A:p.A47E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon1:c.C140A:p.A47E;	9.78533579219204E-4	0.06
18	33767642	C	G	18	36187679	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon1:c.C140G:p.A47G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon1:c.C140G:p.A47G;	0.00286418103528713	0.204
18	33767642	C	T	18	36187679	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon1:c.C140T:p.A47V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon1:c.C140T:p.A47V;	0.0682867542856151	0.49
18	33767643	A	C	18	36187680	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon1:c.A141C:p.A47A;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon1:c.A141C:p.A47A;	0.995882347574106	0.924
18	33767643	A	G	18	36187680	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon1:c.A141G:p.A47A;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon1:c.A141G:p.A47A;	0.999766281826535	0.994
18	33767643	A	T	18	36187680	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon1:c.A141T:p.A47A;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon1:c.A141T:p.A47A;	0.999700870359586	0.968
18	33767644	G	A	18	36187681	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon1:c.G142A:p.G48R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon1:c.G142A:p.G48R;	0.999966376716587	0.998
18	33767644	G	C	18	36187681	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon1:c.G142C:p.G48R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon1:c.G142C:p.G48R;	0.999996251562226	1.0
18	33767644	G	T	18	36187681	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon1:c.G142T:p.G48X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon1:c.G142T:p.G48X;	0.999946300959379	1.0
18	33767645	G	A	18	36187682	y	y	splicing	MOCOS(NM_017947:exon1:c.142+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon1:c.142+1G>A)	.	.	0.999988247793601	0.924
18	33767645	G	C	18	36187682	y	y	splicing	MOCOS(NM_017947:exon1:c.142+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon1:c.142+1G>C)	.	.	0.999988247793601	0.924
18	33767645	G	T	18	36187682	y	y	splicing	MOCOS(NM_017947:exon1:c.142+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon1:c.142+1G>T)	.	.	0.999988247793601	0.924
18	33767646	T	A	18	36187683	y	y	splicing	MOCOS(NM_017947:exon1:c.142+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon1:c.142+2T>A)	.	.	0.999992446697775	0.926
18	33767646	T	C	18	36187683	y	y	splicing	MOCOS(NM_017947:exon1:c.142+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon1:c.142+2T>C)	.	.	0.999951700573546	0.852
18	33767646	T	G	18	36187683	y	y	splicing	MOCOS(NM_017947:exon1:c.142+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon1:c.142+2T>G)	.	.	0.999992446697775	0.924
18	33767647	G	A	18	36187684	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.48153903087373E-5	0.012
18	33767647	G	C	18	36187684	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.62966798553822	0.592
18	33767647	G	T	18	36187684	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.71465411704588	0.58
18	33767648	A	C	18	36187685	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.939530297330911	0.464
18	33767648	A	G	18	36187685	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.994120987851936	0.76
18	33767648	A	T	18	36187685	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.995232097759948	0.708
18	33767649	G	A	18	36187686	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.997100753063539	0.878
18	33767649	G	C	18	36187686	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.989809552952267	0.81
18	33767649	G	T	18	36187686	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99885875796161	0.852
18	33767650	G	A	18	36187687	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.0820322655232E-4	0.028
18	33767650	G	C	18	36187687	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.89985007632334E-4	0.1
18	33767650	G	T	18	36187687	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.33209438050801E-5	0.0
18	33767651	C	A	18	36187688	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.68484665643623E-5	0.002
18	33767651	C	G	18	36187688	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.47510065212051E-4	0.028
18	33767651	C	T	18	36187688	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.05999328048398E-4	0.178
18	33767652	G	A	18	36187689	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.65510246418592E-4	0.012
18	33767652	G	C	18	36187689	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.05605111500793E-4	0.008
18	33767652	G	T	18	36187689	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.85353709924517E-4	0.004
18	33775208	G	A	18	36195245	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.41948642117649E-5	0.0
18	33775208	G	C	18	36195245	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.98664471577337E-6	0.004
18	33775208	G	T	18	36195245	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.36872976877809E-5	0.0
18	33775209	T	A	18	36195246	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00943815279740895	0.174
18	33775209	T	C	18	36195246	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.32724107116672E-4	0.06
18	33775209	T	G	18	36195246	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00578394788102325	0.192
18	33775210	T	A	18	36195247	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0730092613140922	0.18
18	33775210	T	C	18	36195247	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.97432836187103E-4	0.002
18	33775210	T	G	18	36195247	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00688826774375075	0.14
18	33775211	T	A	18	36195248	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00440333828109179	0.162
18	33775211	T	C	18	36195248	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.26757760890611E-4	0.004
18	33775211	T	G	18	36195248	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00440333828109179	0.182
18	33775212	T	A	18	36195249	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00339280288393172	0.034
18	33775212	T	C	18	36195249	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.07698071706586E-5	0.0
18	33775212	T	G	18	36195249	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.30696291948252E-4	0.02
18	33775213	C	A	18	36195250	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.39863810437348E-4	0.016
18	33775213	C	G	18	36195250	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.77261719669373E-5	0.016
18	33775213	C	T	18	36195250	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.55349111283438E-5	0.004
18	33775214	T	A	18	36195251	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0510710423896738	0.166
18	33775214	T	C	18	36195251	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.37738602307306E-5	0.004
18	33775214	T	G	18	36195251	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0403418449313246	0.236
18	33775215	T	A	18	36195252	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0670602338042561	0.392
18	33775215	T	C	18	36195252	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.01380723909303E-4	0.014
18	33775215	T	G	18	36195252	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.276547587366366	0.494
18	33775216	T	A	18	36195253	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.78988599225076E-5	0.0
18	33775216	T	C	18	36195253	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.70594139795477E-5	0.0
18	33775216	T	G	18	36195253	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.48072551729731E-5	0.0
18	33775217	C	A	18	36195254	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.217109758900811	0.366
18	33775217	C	G	18	36195254	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99441389170765	0.902
18	33775217	C	T	18	36195254	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00154824127272537	0.04
18	33775218	A	C	18	36195255	y	y	splicing	MOCOS(NM_017947:exon2:c.143-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.143-2A>C)	.	.	0.999989917668626	0.926
18	33775218	A	G	18	36195255	y	y	splicing	MOCOS(NM_017947:exon2:c.143-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.143-2A>G)	.	.	0.999989917668626	0.926
18	33775218	A	T	18	36195255	y	y	splicing	MOCOS(NM_017947:exon2:c.143-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.143-2A>T)	.	.	0.999989917668626	0.926
18	33775219	G	A	18	36195256	y	y	splicing	MOCOS(NM_017947:exon2:c.143-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.143-1G>A)	.	.	0.999986675681007	0.934
18	33775219	G	C	18	36195256	y	y	splicing	MOCOS(NM_017947:exon2:c.143-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.143-1G>C)	.	.	0.999986675681007	0.932
18	33775219	G	T	18	36195256	y	y	splicing	MOCOS(NM_017947:exon2:c.143-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.143-1G>T)	.	.	0.999986675681007	0.934
18	33775220	G	A	18	36195257	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.G143A:p.G48E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.G143A:p.G48E;	0.403226909429145	0.25
18	33775220	G	C	18	36195257	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.G143C:p.G48A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.G143C:p.G48A;	0.904731294609366	0.734
18	33775220	G	T	18	36195257	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.G143T:p.G48V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.G143T:p.G48V;	0.961961050732514	0.902
18	33775221	A	C	18	36195258	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon2:c.A144C:p.G48G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.A144C:p.G48G;	4.39353965089128E-4	0.024
18	33775221	A	G	18	36195258	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon2:c.A144G:p.G48G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.A144G:p.G48G;	1.52725697124616E-4	0.05
18	33775221	A	T	18	36195258	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon2:c.A144T:p.G48G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.A144T:p.G48G;	1.26710439065344E-5	0.0
18	33775307	A	C	18	36195344	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.A230C:p.Y77S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.A230C:p.Y77S;	0.117759022992147	0.36
18	33775307	A	G	18	36195344	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.A230G:p.Y77C;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.A230G:p.Y77C;	0.373863430299748	0.52
18	33775307	A	T	18	36195344	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.A230T:p.Y77F;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.A230T:p.Y77F;	0.976111243512521	0.77
18	33775308	T	A	18	36195345	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon2:c.T231A:p.Y77X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon2:c.T231A:p.Y77X;	1.75145038881462E-5	0.116
18	33775308	T	C	18	36195345	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon2:c.T231C:p.Y77Y;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.T231C:p.Y77Y;	2.11479248747718E-5	0.0
18	33775308	T	G	18	36195345	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon2:c.T231G:p.Y77X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon2:c.T231G:p.Y77X;	2.51628839555089E-4	0.136
18	33775309	G	A	18	36195346	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.G232A:p.G78S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.G232A:p.G78S;	0.999993350067863	0.998
18	33775309	G	C	18	36195346	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.G232C:p.G78R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.G232C:p.G78R;	0.999995792955118	0.998
18	33775309	G	T	18	36195346	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon2:c.G232T:p.G78C;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon2:c.G232T:p.G78C;	0.999939875608465	1.0
18	33775310	G	A	18	36195347	y	y	splicing	MOCOS(NM_017947:exon2:c.232+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.232+1G>A)	.	.	0.99996748057446	0.926
18	33775310	G	C	18	36195347	y	y	splicing	MOCOS(NM_017947:exon2:c.232+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.232+1G>C)	.	.	0.99996748057446	0.922
18	33775310	G	T	18	36195347	y	y	splicing	MOCOS(NM_017947:exon2:c.232+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.232+1G>T)	.	.	0.99996748057446	0.924
18	33775311	T	A	18	36195348	y	y	splicing	MOCOS(NM_017947:exon2:c.232+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.232+2T>A)	.	.	0.999982151912279	0.918
18	33775311	T	C	18	36195348	y	y	splicing	MOCOS(NM_017947:exon2:c.232+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.232+2T>C)	.	.	0.999737412274624	0.852
18	33775311	T	G	18	36195348	y	y	splicing	MOCOS(NM_017947:exon2:c.232+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon2:c.232+2T>G)	.	.	0.999972871252391	0.91
18	33775312	A	C	18	36195349	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999860303485085	0.862
18	33775312	A	G	18	36195349	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.997543011692592	0.774
18	33775312	A	T	18	36195349	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999860303485085	0.926
18	33775313	A	C	18	36195350	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.968117497973462	0.67
18	33775313	A	G	18	36195350	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999732480149152	0.836
18	33775313	A	T	18	36195350	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.967354666561037	0.704
18	33775314	A	C	18	36195351	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.15734718519238E-4	0.172
18	33775314	A	G	18	36195351	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.64020027839555E-5	0.012
18	33775314	A	T	18	36195351	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.89100937327933E-4	0.034
18	33775315	G	A	18	36195352	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.23508465380333E-4	0.074
18	33775315	G	C	18	36195352	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.61491494992869E-4	0.134
18	33775315	G	T	18	36195352	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.89292420648591E-5	0.014
18	33775316	A	C	18	36195353	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.78885840373946E-4	0.064
18	33775316	A	G	18	36195353	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.47747585319425E-4	0.022
18	33775316	A	T	18	36195353	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.17754707333177E-4	0.046
18	33775317	A	C	18	36195354	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.41294572283424E-5	0.0
18	33775317	A	G	18	36195354	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.93195566533785E-5	0.0
18	33775317	A	T	18	36195354	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.37131441147884E-5	0.0
18	33778641	G	A	18	36198678	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00116738083942412	0.038
18	33778641	G	C	18	36198678	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.94030036210744E-5	0.0
18	33778641	G	T	18	36198678	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.82970747119421E-5	0.002
18	33778642	T	A	18	36198679	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.998885119075185	0.89
18	33778642	T	C	18	36198679	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.79196838209673	0.444
18	33778642	T	G	18	36198679	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999409878342543	0.896
18	33778643	A	C	18	36198680	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.8483058740413E-6	0.024
18	33778643	A	G	18	36198680	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.25598093651028E-5	0.036
18	33778643	A	T	18	36198680	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.36113756725893E-5	0.082
18	33778644	A	C	18	36198681	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.3942473665179	0.558
18	33778644	A	G	18	36198681	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999405118937615	0.922
18	33778644	A	T	18	36198681	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.440154299540254	0.554
18	33778645	C	A	18	36198682	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00465751958734837	0.09
18	33778645	C	G	18	36198682	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999851204642152	0.944
18	33778645	C	T	18	36198682	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.67700047165136E-5	0.0
18	33778646	C	A	18	36198683	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.162705582400856	0.248
18	33778646	C	G	18	36198683	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.11228842972014	0.252
18	33778646	C	T	18	36198683	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00598310673694237	0.084
18	33778647	T	A	18	36198684	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999968288524119	0.954
18	33778647	T	C	18	36198684	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.46581545123138E-5	0.004
18	33778647	T	G	18	36198684	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.137167431502976	0.548
18	33778648	G	A	18	36198685	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.6198223971082E-4	0.012
18	33778648	G	C	18	36198685	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.95569986123514E-5	0.008
18	33778648	G	T	18	36198685	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.79982844842857E-5	0.022
18	33778649	C	A	18	36198686	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.05092282896445E-4	0.082
18	33778649	C	G	18	36198686	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00151901176302683	0.028
18	33778649	C	T	18	36198686	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00155047217226977	0.09
18	33778650	C	A	18	36198687	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.995304108509665	0.896
18	33778650	C	G	18	36198687	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999935241396866	0.982
18	33778650	C	T	18	36198687	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0475572671603559	0.068
18	33778651	A	C	18	36198688	y	y	splicing	MOCOS(NM_017947:exon3:c.233-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.233-2A>C)	.	.	0.999988247793601	0.94
18	33778651	A	G	18	36198688	y	y	splicing	MOCOS(NM_017947:exon3:c.233-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.233-2A>G)	.	.	0.999988247793601	0.94
18	33778651	A	T	18	36198688	y	y	splicing	MOCOS(NM_017947:exon3:c.233-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.233-2A>T)	.	.	0.999988247793601	0.94
18	33778652	G	A	18	36198689	y	y	splicing	MOCOS(NM_017947:exon3:c.233-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.233-1G>A)	.	.	0.999986675681007	0.944
18	33778652	G	C	18	36198689	y	y	splicing	MOCOS(NM_017947:exon3:c.233-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.233-1G>C)	.	.	0.999986675681007	0.944
18	33778652	G	T	18	36198689	y	y	splicing	MOCOS(NM_017947:exon3:c.233-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.233-1G>T)	.	.	0.999986675681007	0.944
18	33778653	G	A	18	36198690	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon3:c.G233A:p.G78D;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.G233A:p.G78D;	0.999760012194456	0.96
18	33778653	G	C	18	36198690	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon3:c.G233C:p.G78A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.G233C:p.G78A;	0.999730173366052	0.988
18	33778653	G	T	18	36198690	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon3:c.G233T:p.G78V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.G233T:p.G78V;	0.999806531252296	0.988
18	33778654	T	A	18	36198691	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon3:c.T234A:p.G78G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.T234A:p.G78G;	0.00346534494325027	0.144
18	33778654	T	C	18	36198691	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon3:c.T234C:p.G78G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.T234C:p.G78G;	0.00575351433198344	0.228
18	33778654	T	G	18	36198691	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon3:c.T234G:p.G78G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.T234G:p.G78G;	0.00630391503529434	0.172
18	33778717	C	A	18	36198754	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon3:c.C297A:p.Y99X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon3:c.C297A:p.Y99X;	0.947851600004971	0.844
18	33778717	C	G	18	36198754	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon3:c.C297G:p.Y99X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon3:c.C297G:p.Y99X;	0.908863175215295	0.664
18	33778717	C	T	18	36198754	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon3:c.C297T:p.Y99Y;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.C297T:p.Y99Y;	0.520053067083802	0.334
18	33778718	A	C	18	36198755	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon3:c.A298C:p.R100R;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.A298C:p.R100R;	0.976407184507623	0.804
18	33778718	A	G	18	36198755	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon3:c.A298G:p.R100G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.A298G:p.R100G;	0.994794220228447	0.896
18	33778718	A	T	18	36198755	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon3:c.A298T:p.R100X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon3:c.A298T:p.R100X;	0.986619712218929	0.554
18	33778719	G	A	18	36198756	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon3:c.G299A:p.R100K;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.G299A:p.R100K;	0.999459310739675	0.888
18	33778719	G	C	18	36198756	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon3:c.G299C:p.R100T;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.G299C:p.R100T;	0.99990080463912	0.952
18	33778719	G	T	18	36198756	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon3:c.G299T:p.R100I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon3:c.G299T:p.R100I;	0.999580066580087	0.94
18	33778720	G	A	18	36198757	y	y	splicing	MOCOS(NM_017947:exon3:c.299+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.299+1G>A)	.	.	0.999986675681007	0.932
18	33778720	G	C	18	36198757	y	y	splicing	MOCOS(NM_017947:exon3:c.299+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.299+1G>C)	.	.	0.999986675681007	0.93
18	33778720	G	T	18	36198757	y	y	splicing	MOCOS(NM_017947:exon3:c.299+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.299+1G>T)	.	.	0.999986675681007	0.93
18	33778721	T	A	18	36198758	y	y	splicing	MOCOS(NM_017947:exon3:c.299+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.299+2T>A)	.	.	0.999988247793601	0.926
18	33778721	T	C	18	36198758	y	y	splicing	MOCOS(NM_017947:exon3:c.299+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.299+2T>C)	.	.	0.986973409415639	0.628
18	33778721	T	G	18	36198758	y	y	splicing	MOCOS(NM_017947:exon3:c.299+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon3:c.299+2T>G)	.	.	0.999988247793601	0.926
18	33778722	A	C	18	36198759	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.474730705949747	0.524
18	33778722	A	G	18	36198759	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.78705413407552E-4	0.016
18	33778722	A	T	18	36198759	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.519908375538991	0.476
18	33778723	A	C	18	36198760	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.133174465009495	0.444
18	33778723	A	G	18	36198760	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.187613175292484	0.424
18	33778723	A	T	18	36198760	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.223888063117964	0.414
18	33778724	G	A	18	36198761	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.745796138787299	0.538
18	33778724	G	C	18	36198761	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.73761302674325	0.576
18	33778724	G	T	18	36198761	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.905394290885141	0.746
18	33778725	C	A	18	36198762	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.05699369244236E-4	0.012
18	33778725	C	G	18	36198762	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.96155066392828E-5	0.032
18	33778725	C	T	18	36198762	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.03035498691877E-5	0.002
18	33778726	A	C	18	36198763	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.0616401152612E-5	0.006
18	33778726	A	G	18	36198763	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.56061470589712E-5	0.006
18	33778726	A	T	18	36198763	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.54083264039039E-5	0.01
18	33778727	T	A	18	36198764	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.57046648625621E-5	0.002
18	33778727	T	C	18	36198764	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.35428655471156E-5	0.0
18	33778727	T	G	18	36198764	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.44891277280084E-5	0.0
18	33779634	T	A	18	36199671	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999415892563064	0.954
18	33779634	T	C	18	36199671	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.12151653248231E-4	0.054
18	33779634	T	G	18	36199671	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.171621977369902	0.362
18	33779635	G	A	18	36199672	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.27770449495859E-4	0.052
18	33779635	G	C	18	36199672	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.46237321652817E-4	0.006
18	33779635	G	T	18	36199672	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.91831314204224E-5	0.016
18	33779636	C	A	18	36199673	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00168578991613728	0.056
18	33779636	C	G	18	36199673	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00394946535753255	0.084
18	33779636	C	T	18	36199673	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.49198333602483E-4	0.004
18	33779637	T	A	18	36199674	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0220093085370524	0.158
18	33779637	T	C	18	36199674	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.65126282913724E-4	0.088
18	33779637	T	G	18	36199674	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00918033240808811	0.164
18	33779638	T	A	18	36199675	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0840149085052516	0.208
18	33779638	T	C	18	36199675	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.93343284337317E-5	0.0
18	33779638	T	G	18	36199675	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00546181420626812	0.146
18	33779639	C	A	18	36199676	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00850253802066277	0.114
18	33779639	C	G	18	36199676	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00709866120513734	0.068
18	33779639	C	T	18	36199676	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.75502449509697E-5	0.0
18	33779640	T	A	18	36199677	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.626293728278793	0.4
18	33779640	T	C	18	36199677	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.79732445351543E-4	0.004
18	33779640	T	G	18	36199677	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.892661440832425	0.626
18	33779641	T	A	18	36199678	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.580404438897985	0.376
18	33779641	T	C	18	36199678	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00565208904761753	0.134
18	33779641	T	G	18	36199678	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.884365660797201	0.438
18	33779642	C	A	18	36199679	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.236411048378E-5	0.0
18	33779642	C	G	18	36199679	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.51965981708353E-5	0.0
18	33779642	C	T	18	36199679	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.236411048378E-5	0.0
18	33779643	C	A	18	36199680	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.994101937580287	0.776
18	33779643	C	G	18	36199680	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999347484484683	0.944
18	33779643	C	T	18	36199680	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0145719176461548	0.224
18	33779644	A	C	18	36199681	y	y	splicing	MOCOS(NM_017947:exon4:c.300-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.300-2A>C)	.	.	0.99996509239462	0.934
18	33779644	A	G	18	36199681	y	y	splicing	MOCOS(NM_017947:exon4:c.300-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.300-2A>G)	.	.	0.99996509239462	0.934
18	33779644	A	T	18	36199681	y	y	splicing	MOCOS(NM_017947:exon4:c.300-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.300-2A>T)	.	.	0.99996509239462	0.924
18	33779645	G	A	18	36199682	y	y	splicing	MOCOS(NM_017947:exon4:c.300-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.300-1G>A)	.	.	0.999970661931818	0.916
18	33779645	G	C	18	36199682	y	y	splicing	MOCOS(NM_017947:exon4:c.300-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.300-1G>C)	.	.	0.99994568797423	0.91
18	33779645	G	T	18	36199682	y	y	splicing	MOCOS(NM_017947:exon4:c.300-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.300-1G>T)	.	.	0.99994568797423	0.916
18	33779646	A	C	18	36199683	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.A300C:p.R100S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A300C:p.R100S;	0.0103874603362504	0.174
18	33779646	A	G	18	36199683	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon4:c.A300G:p.R100R;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A300G:p.R100R;	3.78688108374339E-5	0.002
18	33779646	A	T	18	36199683	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.A300T:p.R100S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A300T:p.R100S;	0.0161810645915245	0.18
18	33779647	A	C	18	36199684	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.A301C:p.I101L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A301C:p.I101L;	5.33417364088202E-4	0.124
18	33779647	A	G	18	36199684	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.A301G:p.I101V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A301G:p.I101V;	5.82346018219687E-5	0.006
18	33779647	A	T	18	36199684	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.A301T:p.I101F;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A301T:p.I101F;	1.2766637261621E-4	0.066
18	33780285	G	A	18	36200322	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon4:c.G939A:p.Q313Q;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.G939A:p.Q313Q;	2.51715955169506E-5	0.0
18	33780285	G	C	18	36200322	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.G939C:p.Q313H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.G939C:p.Q313H;	2.00011056818043E-5	0.0
18	33780285	G	T	18	36200322	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.G939T:p.Q313H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.G939T:p.Q313H;	6.08148198099822E-4	0.12
18	33780286	A	C	18	36200323	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon4:c.A940C:p.R314R;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A940C:p.R314R;	0.934779016290007	0.702
18	33780286	A	G	18	36200323	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.A940G:p.R314G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A940G:p.R314G;	0.999125957305498	0.96
18	33780286	A	T	18	36200323	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.A940T:p.R314W;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.A940T:p.R314W;	0.999820348806432	0.962
18	33780287	G	A	18	36200324	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.G941A:p.R314K;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.G941A:p.R314K;	0.999995607086947	1.0
18	33780287	G	C	18	36200324	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.G941C:p.R314T;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.G941C:p.R314T;	0.999934899901889	0.998
18	33780287	G	T	18	36200324	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.G941T:p.R314M;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon4:c.G941T:p.R314M;	0.999870667807483	1.0
18	33780288	G	A	18	36200325	y	y	splicing	MOCOS(NM_017947:exon4:c.941+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.941+1G>A)	.	.	0.999960200702261	0.964
18	33780288	G	C	18	36200325	y	y	splicing	MOCOS(NM_017947:exon4:c.941+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.941+1G>C)	.	.	0.999958812450268	0.964
18	33780288	G	T	18	36200325	y	y	splicing	MOCOS(NM_017947:exon4:c.941+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.941+1G>T)	.	.	0.999960200702261	0.964
18	33780289	T	A	18	36200326	y	y	splicing	MOCOS(NM_017947:exon4:c.941+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.941+2T>A)	.	.	0.999966203349492	0.946
18	33780289	T	C	18	36200326	y	y	splicing	MOCOS(NM_017947:exon4:c.941+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.941+2T>C)	.	.	0.95682097519285	0.65
18	33780289	T	G	18	36200326	y	y	splicing	MOCOS(NM_017947:exon4:c.941+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon4:c.941+2T>G)	.	.	0.999966203349492	0.952
18	33780290	A	C	18	36200327	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999754128740644	0.926
18	33780290	A	G	18	36200327	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.903856296476122	0.73
18	33780290	A	T	18	36200327	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999752574330922	0.946
18	33780291	A	C	18	36200328	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.429968406454173	0.502
18	33780291	A	G	18	36200328	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.643416154586301	0.616
18	33780291	A	T	18	36200328	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.624232906634006	0.474
18	33780292	C	A	18	36200329	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.7269197844009E-4	0.014
18	33780292	C	G	18	36200329	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.72389319886111E-4	0.122
18	33780292	C	T	18	36200329	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00399698141920422	0.152
18	33780293	C	A	18	36200330	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.15913516520012E-4	0.002
18	33780293	C	G	18	36200330	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.15608560139667E-5	0.02
18	33780293	C	T	18	36200330	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.25636239864534E-5	0.028
18	33780294	T	A	18	36200331	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.01005136231726E-4	0.0
18	33780294	T	C	18	36200331	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.01005136231726E-4	0.0
18	33780294	T	G	18	36200331	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.40762183897444E-4	0.004
18	33780295	T	A	18	36200332	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.1951649367366E-5	0.0
18	33780295	T	C	18	36200332	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.62940734831161E-4	0.178
18	33780295	T	G	18	36200332	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.19365061767189E-5	0.0
18	33783064	C	A	18	36203101	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.06977584278312E-5	0.034
18	33783064	C	G	18	36203101	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.57426542370521E-5	0.036
18	33783064	C	T	18	36203101	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.06194902975875E-5	0.0
18	33783065	C	A	18	36203102	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.971621157979479	0.856
18	33783065	C	G	18	36203102	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.96964118440405E-4	0.08
18	33783065	C	T	18	36203102	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.31646792527514E-5	0.0
18	33783066	G	A	18	36203103	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.61817365226017E-5	0.016
18	33783066	G	C	18	36203103	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.25279927330413E-5	0.0
18	33783066	G	T	18	36203103	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.25279927330413E-5	0.0
18	33783067	T	A	18	36203104	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999832903694875	0.892
18	33783067	T	C	18	36203104	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.08091269154347E-5	0.002
18	33783067	T	G	18	36203104	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0120481914379122	0.288
18	33783068	G	A	18	36203105	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.997232856192174	0.95
18	33783068	G	C	18	36203105	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.45412636785681E-5	0.004
18	33783068	G	T	18	36203105	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.45412636785681E-5	0.01
18	33783069	G	A	18	36203106	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.23188490288227E-4	0.038
18	33783069	G	C	18	36203106	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.58716764222823E-5	0.0
18	33783069	G	T	18	36203106	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.58716764222823E-5	0.002
18	33783070	T	A	18	36203107	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.368959164497829	0.576
18	33783070	T	C	18	36203107	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.81837015073305E-4	0.006
18	33783070	T	G	18	36203107	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.342781290824087	0.534
18	33783071	T	A	18	36203108	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.786302976306988	0.61
18	33783071	T	C	18	36203108	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.27247790734121E-4	0.056
18	33783071	T	G	18	36203108	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.509369478962977	0.602
18	33783072	A	C	18	36203109	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.20046505034522E-5	0.0
18	33783072	A	G	18	36203109	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.9614875698206E-5	0.006
18	33783072	A	T	18	36203109	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.84945865171408E-4	0.064
18	33783073	T	A	18	36203110	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0251297158638969	0.214
18	33783073	T	C	18	36203110	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.42700851000769E-5	0.002
18	33783073	T	G	18	36203110	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99627368205635	0.688
18	33783074	A	C	18	36203111	y	y	splicing	MOCOS(NM_017947:exon5:c.942-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.942-2A>C)	.	.	0.999988247793601	0.926
18	33783074	A	G	18	36203111	y	y	splicing	MOCOS(NM_017947:exon5:c.942-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.942-2A>G)	.	.	0.999988247793601	0.926
18	33783074	A	T	18	36203111	y	y	splicing	MOCOS(NM_017947:exon5:c.942-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.942-2A>T)	.	.	0.999988247793601	0.926
18	33783075	G	A	18	36203112	y	y	splicing	MOCOS(NM_017947:exon5:c.942-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.942-1G>A)	.	.	0.999986675681007	0.932
18	33783075	G	C	18	36203112	y	y	splicing	MOCOS(NM_017947:exon5:c.942-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.942-1G>C)	.	.	0.999986675681007	0.932
18	33783075	G	T	18	36203112	y	y	splicing	MOCOS(NM_017947:exon5:c.942-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.942-1G>T)	.	.	0.999986675681007	0.932
18	33783076	G	A	18	36203113	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon5:c.G942A:p.R314R;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.G942A:p.R314R;	0.00794538209187272	0.176
18	33783076	G	C	18	36203113	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.G942C:p.R314S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.G942C:p.R314S;	0.880760419093827	0.604
18	33783076	G	T	18	36203113	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.G942T:p.R314S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.G942T:p.R314S;	0.993935878208288	0.726
18	33783077	T	A	18	36203114	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.T943A:p.F315I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.T943A:p.F315I;	0.15419595833561	0.478
18	33783077	T	C	18	36203114	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.T943C:p.F315L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.T943C:p.F315L;	0.197546234691233	0.516
18	33783077	T	G	18	36203114	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.T943G:p.F315V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.T943G:p.F315V;	0.205626283014065	0.45
18	33783150	C	A	18	36203187	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.C1016A:p.T339K;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.C1016A:p.T339K;	0.0656127450788187	0.472
18	33783150	C	G	18	36203187	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.C1016G:p.T339R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.C1016G:p.T339R;	0.0905670267039067	0.374
18	33783150	C	T	18	36203187	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.C1016T:p.T339I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.C1016T:p.T339I;	0.873491544218759	0.66
18	33783151	A	C	18	36203188	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon5:c.A1017C:p.T339T;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.A1017C:p.T339T;	0.971157402267417	0.868
18	33783151	A	G	18	36203188	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon5:c.A1017G:p.T339T;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.A1017G:p.T339T;	0.994298183410617	0.928
18	33783151	A	T	18	36203188	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon5:c.A1017T:p.T339T;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.A1017T:p.T339T;	0.998166326393752	0.954
18	33783152	G	A	18	36203189	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.G1018A:p.G340S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.G1018A:p.G340S;	0.999980737533753	1.0
18	33783152	G	C	18	36203189	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.G1018C:p.G340R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.G1018C:p.G340R;	0.99999177793286	1.0
18	33783152	G	T	18	36203189	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon5:c.G1018T:p.G340C;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon5:c.G1018T:p.G340C;	0.999982050749664	0.998
18	33783153	G	A	18	36203190	y	y	splicing	MOCOS(NM_017947:exon5:c.1018+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.1018+1G>A)	.	.	0.999986675681007	0.938
18	33783153	G	C	18	36203190	y	y	splicing	MOCOS(NM_017947:exon5:c.1018+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.1018+1G>C)	.	.	0.999986675681007	0.938
18	33783153	G	T	18	36203190	y	y	splicing	MOCOS(NM_017947:exon5:c.1018+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.1018+1G>T)	.	.	0.999986675681007	0.938
18	33783154	T	A	18	36203191	y	y	splicing	MOCOS(NM_017947:exon5:c.1018+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.1018+2T>A)	.	.	0.999981808176352	0.924
18	33783154	T	C	18	36203191	y	y	splicing	MOCOS(NM_017947:exon5:c.1018+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.1018+2T>C)	.	.	0.989661189356891	0.566
18	33783154	T	G	18	36203191	y	y	splicing	MOCOS(NM_017947:exon5:c.1018+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon5:c.1018+2T>G)	.	.	0.999981808176352	0.924
18	33783155	C	A	18	36203192	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.5568245590667E-4	0.132
18	33783155	C	G	18	36203192	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.9536951029622E-4	0.126
18	33783155	C	T	18	36203192	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.70425856994918E-4	0.022
18	33783156	A	C	18	36203193	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.982752939346731	0.738
18	33783156	A	G	18	36203193	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.933031310771205	0.582
18	33783156	A	T	18	36203193	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.985173436094439	0.678
18	33783157	G	A	18	36203194	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.998539828820496	0.954
18	33783157	G	C	18	36203194	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99712499258414	0.768
18	33783157	G	T	18	36203194	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.998560126844475	0.928
18	33783158	T	A	18	36203195	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.430594088641859	0.454
18	33783158	T	C	18	36203195	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.468773783995374	0.552
18	33783158	T	G	18	36203195	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.407979673606302	0.412
18	33783159	G	A	18	36203196	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.03958328974598E-4	0.022
18	33783159	G	C	18	36203196	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.07294623807447E-4	0.01
18	33783159	G	T	18	36203196	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.00061375586991E-4	0.006
18	33783160	G	A	18	36203197	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.9003436666565E-4	0.004
18	33783160	G	C	18	36203197	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.63413875743846E-4	0.006
18	33783160	G	T	18	36203197	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.63413875743846E-4	0.004
18	33785028	G	A	18	36205065	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.47300155174741E-5	0.002
18	33785028	G	C	18	36205065	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.86054084189382E-6	0.016
18	33785028	G	T	18	36205065	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.86054084189382E-6	0.016
18	33785029	A	C	18	36205066	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.29194667231083E-5	0.018
18	33785029	A	G	18	36205066	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.23104096157568E-5	0.01
18	33785029	A	T	18	36205066	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.18047108171455E-5	0.038
18	33785030	T	A	18	36205067	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.457148199980563	0.562
18	33785030	T	C	18	36205067	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00258248625901776	0.128
18	33785030	T	G	18	36205067	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999538414868848	0.946
18	33785031	T	A	18	36205068	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999026690629211	0.904
18	33785031	T	C	18	36205068	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.56930636017443E-5	0.074
18	33785031	T	G	18	36205068	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.149007138123857	0.49
18	33785032	G	A	18	36205069	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.73959716636233E-4	0.056
18	33785032	G	C	18	36205069	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.51240729855456E-5	0.074
18	33785032	G	T	18	36205069	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.33704105210701E-5	0.1
18	33785033	A	C	18	36205070	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.86807457911641E-4	0.104
18	33785033	A	G	18	36205070	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.35112137338825E-4	0.048
18	33785033	A	T	18	36205070	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.28666180221364E-4	0.102
18	33785034	T	A	18	36205071	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.167974921705605	0.512
18	33785034	T	C	18	36205071	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.21502689552109E-4	0.078
18	33785034	T	G	18	36205071	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.984360877495746	0.87
18	33785035	T	A	18	36205072	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.951289242449903	0.498
18	33785035	T	C	18	36205072	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0673080959962993	0.264
18	33785035	T	G	18	36205072	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.901869436549515	0.486
18	33785036	T	A	18	36205073	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0515183269297082	0.13
18	33785036	T	C	18	36205073	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.88834015851185E-5	0.062
18	33785036	T	G	18	36205073	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0223111710098678	0.132
18	33785037	G	A	18	36205074	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.43883496895706E-4	0.058
18	33785037	G	C	18	36205074	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.22008920292058E-4	0.134
18	33785037	G	T	18	36205074	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.27648770156754E-4	0.052
18	33785038	A	C	18	36205075	y	y	splicing	MOCOS(NM_017947:exon6:c.1019-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1019-2A>C)	.	.	0.999561546518707	0.804
18	33785038	A	G	18	36205075	y	y	splicing	MOCOS(NM_017947:exon6:c.1019-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1019-2A>G)	.	.	0.999561546518707	0.812
18	33785038	A	T	18	36205075	y	y	splicing	MOCOS(NM_017947:exon6:c.1019-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1019-2A>T)	.	.	0.999561546518707	0.81
18	33785039	G	A	18	36205076	y	y	splicing	MOCOS(NM_017947:exon6:c.1019-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1019-1G>A)	.	.	0.99998761664516	0.862
18	33785039	G	C	18	36205076	y	y	splicing	MOCOS(NM_017947:exon6:c.1019-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1019-1G>C)	.	.	0.99998761664516	0.862
18	33785039	G	T	18	36205076	y	y	splicing	MOCOS(NM_017947:exon6:c.1019-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1019-1G>T)	.	.	0.99998761664516	0.862
18	33785040	G	A	18	36205077	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.G1019A:p.G340D;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.G1019A:p.G340D;	0.999881923625678	0.806
18	33785040	G	C	18	36205077	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.G1019C:p.G340A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.G1019C:p.G340A;	0.999955696469347	0.832
18	33785040	G	T	18	36205077	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.G1019T:p.G340V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.G1019T:p.G340V;	0.99995852715825	0.892
18	33785041	T	A	18	36205078	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon6:c.T1020A:p.G340G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.T1020A:p.G340G;	8.70253178039076E-5	0.072
18	33785041	T	C	18	36205078	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon6:c.T1020C:p.G340G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.T1020C:p.G340G;	0.00101267581144221	0.056
18	33785041	T	G	18	36205078	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon6:c.T1020G:p.G340G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.T1020G:p.G340G;	0.00948846433588859	0.148
18	33785237	C	A	18	36205274	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.C1216A:p.Q406K;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.C1216A:p.Q406K;	0.00755933318229363	0.108
18	33785237	C	G	18	36205274	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.C1216G:p.Q406E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.C1216G:p.Q406E;	2.27109000825442E-4	0.074
18	33785237	C	T	18	36205274	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon6:c.C1216T:p.Q406X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon6:c.C1216T:p.Q406X;	0.913688350369828	0.746
18	33785238	A	C	18	36205275	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.A1217C:p.Q406P;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.A1217C:p.Q406P;	0.999705995804532	0.976
18	33785238	A	G	18	36205275	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.A1217G:p.Q406R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.A1217G:p.Q406R;	0.999910067242398	1.0
18	33785238	A	T	18	36205275	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.A1217T:p.Q406L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.A1217T:p.Q406L;	0.999925238597953	0.996
18	33785239	G	A	18	36205276	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon6:c.G1218A:p.Q406Q;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.G1218A:p.Q406Q;	0.999915488940058	0.996
18	33785239	G	C	18	36205276	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.G1218C:p.Q406H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.G1218C:p.Q406H;	0.999996494771449	0.996
18	33785239	G	T	18	36205276	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon6:c.G1218T:p.Q406H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon6:c.G1218T:p.Q406H;	0.999990240889605	1.0
18	33785240	G	A	18	36205277	y	y	splicing	MOCOS(NM_017947:exon6:c.1218+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1218+1G>A)	.	.	0.999990361384395	0.93
18	33785240	G	C	18	36205277	y	y	splicing	MOCOS(NM_017947:exon6:c.1218+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1218+1G>C)	.	.	0.999990361384395	0.93
18	33785240	G	T	18	36205277	y	y	splicing	MOCOS(NM_017947:exon6:c.1218+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1218+1G>T)	.	.	0.999990361384395	0.93
18	33785241	T	A	18	36205278	y	y	splicing	MOCOS(NM_017947:exon6:c.1218+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1218+2T>A)	.	.	0.999988247793601	0.916
18	33785241	T	C	18	36205278	y	y	splicing	MOCOS(NM_017947:exon6:c.1218+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1218+2T>C)	.	.	0.999943260809542	0.87
18	33785241	T	G	18	36205278	y	y	splicing	MOCOS(NM_017947:exon6:c.1218+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon6:c.1218+2T>G)	.	.	0.999988247793601	0.916
18	33785242	G	A	18	36205279	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.32895823587468E-4	0.072
18	33785242	G	C	18	36205279	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0288388551350531	0.526
18	33785242	G	T	18	36205279	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.063663068035496	0.406
18	33785243	G	A	18	36205280	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.90452135640413E-4	0.124
18	33785243	G	C	18	36205280	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.84797891372194E-4	0.096
18	33785243	G	T	18	36205280	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00144641709308117	0.104
18	33785244	G	A	18	36205281	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.997792672584067	0.914
18	33785244	G	C	18	36205281	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999381225467225	0.936
18	33785244	G	T	18	36205281	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.997993283513556	0.852
18	33785245	T	A	18	36205282	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00454411654066297	0.276
18	33785245	T	C	18	36205282	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00483340461938448	0.288
18	33785245	T	G	18	36205282	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00296813252756514	0.262
18	33785246	T	A	18	36205283	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00587245464343183	0.006
18	33785246	T	C	18	36205283	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00659293872741134	0.008
18	33785246	T	G	18	36205283	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00532860873364576	0.006
18	33785247	T	A	18	36205284	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00266159851509917	0.002
18	33785247	T	C	18	36205284	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.50374826848519E-4	0.0
18	33785247	T	G	18	36205284	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00260571185495511	0.038
18	33793317	T	A	18	36213354	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0525393468536562	0.468
18	33793317	T	C	18	36213354	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.49275536728236E-4	0.09
18	33793317	T	G	18	36213354	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999690189472467	0.968
18	33793318	T	A	18	36213355	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.393618417385975	0.546
18	33793318	T	C	18	36213355	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0226116412820098	0.264
18	33793318	T	G	18	36213355	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.818981390330511	0.626
18	33793319	A	C	18	36213356	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.47408483585621E-5	0.0
18	33793319	A	G	18	36213356	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.44876233256251E-5	0.0
18	33793319	A	T	18	36213356	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.20543378537447E-5	0.0
18	33793320	A	C	18	36213357	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.08280576944273E-5	0.0
18	33793320	A	G	18	36213357	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.983864645617592	0.968
18	33793320	A	T	18	36213357	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.07033581510362E-5	0.0
18	33793321	A	C	18	36213358	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.07787443080673E-5	0.006
18	33793321	A	G	18	36213358	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999122226945996	0.958
18	33793321	A	T	18	36213358	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.07787443080673E-5	0.014
18	33793322	T	A	18	36213359	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0412486797614845	0.21
18	33793322	T	C	18	36213359	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.60041184269298E-4	0.044
18	33793322	T	G	18	36213359	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99765358270444	0.908
18	33793323	C	A	18	36213360	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.2037740128498	0.426
18	33793323	C	G	18	36213360	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0645043169833255	0.41
18	33793323	C	T	18	36213360	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.06701215849519E-4	0.016
18	33793324	C	A	18	36213361	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.992412353240803	0.9
18	33793324	C	G	18	36213361	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00259558932011886	0.12
18	33793324	C	T	18	36213361	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.62677976224232E-5	0.0
18	33793325	G	A	18	36213362	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.38833972825439E-5	0.0
18	33793325	G	C	18	36213362	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.17191298891299E-6	0.004
18	33793325	G	T	18	36213362	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.75299104305492E-5	0.212
18	33793326	C	A	18	36213363	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.979106027378948	0.746
18	33793326	C	G	18	36213363	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999676433403315	0.76
18	33793326	C	T	18	36213363	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00204910312404459	0.186
18	33793327	A	C	18	36213364	y	y	splicing	MOCOS(NM_017947:exon7:c.1219-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1219-2A>C)	.	.	0.999960395825381	0.952
18	33793327	A	G	18	36213364	y	y	splicing	MOCOS(NM_017947:exon7:c.1219-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1219-2A>G)	.	.	0.999960395825381	0.952
18	33793327	A	T	18	36213364	y	y	splicing	MOCOS(NM_017947:exon7:c.1219-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1219-2A>T)	.	.	0.99993928974862	0.954
18	33793328	G	A	18	36213365	y	y	splicing	MOCOS(NM_017947:exon7:c.1219-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1219-1G>A)	.	.	0.999931168886061	0.946
18	33793328	G	C	18	36213365	y	y	splicing	MOCOS(NM_017947:exon7:c.1219-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1219-1G>C)	.	.	0.999931168886061	0.94
18	33793328	G	T	18	36213365	y	y	splicing	MOCOS(NM_017947:exon7:c.1219-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1219-1G>T)	.	.	0.999931168886061	0.942
18	33793329	G	A	18	36213366	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.G1219A:p.V407M;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.G1219A:p.V407M;	0.394795064893133	0.468
18	33793329	G	C	18	36213366	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.G1219C:p.V407L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.G1219C:p.V407L;	0.988141772550274	0.792
18	33793329	G	T	18	36213366	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.G1219T:p.V407L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.G1219T:p.V407L;	0.998701130981337	0.898
18	33793330	T	A	18	36213367	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.T1220A:p.V407E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.T1220A:p.V407E;	0.823572705803969	0.404
18	33793330	T	C	18	36213367	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.T1220C:p.V407A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.T1220C:p.V407A;	0.648561441868665	0.308
18	33793330	T	G	18	36213367	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.T1220G:p.V407G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.T1220G:p.V407G;	0.790229887194342	0.396
18	33793443	C	A	18	36213480	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.C1333A:p.Q445K;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.C1333A:p.Q445K;	5.85053473228647E-5	0.03
18	33793443	C	G	18	36213480	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.C1333G:p.Q445E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.C1333G:p.Q445E;	0.00162849421603044	0.05
18	33793443	C	T	18	36213480	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon7:c.C1333T:p.Q445X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon7:c.C1333T:p.Q445X;	0.814745788841043	0.624
18	33793444	A	C	18	36213481	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.A1334C:p.Q445P;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.A1334C:p.Q445P;	0.999814801272568	0.99
18	33793444	A	G	18	36213481	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.A1334G:p.Q445R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.A1334G:p.Q445R;	0.999868365883012	0.988
18	33793444	A	T	18	36213481	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.A1334T:p.Q445L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.A1334T:p.Q445L;	0.999879546721698	0.998
18	33793445	G	A	18	36213482	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon7:c.G1335A:p.Q445Q;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.G1335A:p.Q445Q;	0.999954448859082	0.978
18	33793445	G	C	18	36213482	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.G1335C:p.Q445H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.G1335C:p.Q445H;	0.999994977441711	0.944
18	33793445	G	T	18	36213482	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon7:c.G1335T:p.Q445H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon7:c.G1335T:p.Q445H;	0.999955004593816	0.976
18	33793446	G	A	18	36213483	y	y	splicing	MOCOS(NM_017947:exon7:c.1335+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1335+1G>A)	.	.	0.999938422912956	0.948
18	33793446	G	C	18	36213483	y	y	splicing	MOCOS(NM_017947:exon7:c.1335+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1335+1G>C)	.	.	0.999938990645747	0.948
18	33793446	G	T	18	36213483	y	y	splicing	MOCOS(NM_017947:exon7:c.1335+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1335+1G>T)	.	.	0.999938422912956	0.948
18	33793447	T	A	18	36213484	y	y	splicing	MOCOS(NM_017947:exon7:c.1335+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1335+2T>A)	.	.	0.999946188727699	0.952
18	33793447	T	C	18	36213484	y	y	splicing	MOCOS(NM_017947:exon7:c.1335+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1335+2T>C)	.	.	0.961956094029623	0.622
18	33793447	T	G	18	36213484	y	y	splicing	MOCOS(NM_017947:exon7:c.1335+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon7:c.1335+2T>G)	.	.	0.999946188727699	0.956
18	33793448	T	A	18	36213485	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.26855093080805E-4	0.154
18	33793448	T	C	18	36213485	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.75980720863004E-4	0.13
18	33793448	T	G	18	36213485	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.21989330278592E-5	0.446
18	33793449	G	A	18	36213486	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.97649310658515E-4	0.284
18	33793449	G	C	18	36213486	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.61357331104508E-4	0.086
18	33793449	G	T	18	36213486	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.90244109031173E-4	0.048
18	33793450	G	A	18	36213487	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999683908547758	0.948
18	33793450	G	C	18	36213487	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999984272434442	0.984
18	33793450	G	T	18	36213487	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999995997967053	0.982
18	33793451	T	A	18	36213488	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.699246723017689	0.458
18	33793451	T	C	18	36213488	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.848506284691207	0.592
18	33793451	T	G	18	36213488	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.590965131835819	0.566
18	33793452	A	C	18	36213489	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.81104709051921E-5	0.0
18	33793452	A	G	18	36213489	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.3616446104652E-5	0.004
18	33793452	A	T	18	36213489	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.50505404364141E-4	0.01
18	33793453	C	A	18	36213490	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.74562909073384E-4	0.002
18	33793453	C	G	18	36213490	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.19261605280884E-4	0.028
18	33793453	C	T	18	36213490	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.23730670469557E-5	0.0
18	33795467	C	A	18	36215504	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.42472975494718E-4	0.0
18	33795467	C	G	18	36215504	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.2128773767393E-4	0.012
18	33795467	C	T	18	36215504	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.09980957267372E-5	0.0
18	33795468	T	A	18	36215505	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0106513765181962	0.238
18	33795468	T	C	18	36215505	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.42599455248846E-4	0.024
18	33795468	T	G	18	36215505	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00257327141087406	0.134
18	33795469	C	A	18	36215506	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.46447809781433E-4	0.04
18	33795469	C	G	18	36215506	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.26904924245005E-4	0.062
18	33795469	C	T	18	36215506	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.55418098763069E-5	0.002
18	33795470	T	A	18	36215507	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00362733059512983	0.14
18	33795470	T	C	18	36215507	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.71881454526493E-5	0.0
18	33795470	T	G	18	36215507	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00265200624562524	0.12
18	33795471	T	A	18	36215508	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.88358869907123E-5	0.098
18	33795471	T	C	18	36215508	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.75344580932068E-6	0.008
18	33795471	T	G	18	36215508	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.17893887108307E-5	0.056
18	33795472	A	C	18	36215509	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.65734943086502E-5	0.0
18	33795472	A	G	18	36215509	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.92112074020235E-5	0.0
18	33795472	A	T	18	36215509	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.88028381501361E-5	0.0
18	33795473	T	A	18	36215510	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00867216898823906	0.066
18	33795473	T	C	18	36215510	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.00376512364052E-4	0.0
18	33795473	T	G	18	36215510	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999880996274792	0.984
18	33795474	C	A	18	36215511	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.67716408983894E-4	0.04
18	33795474	C	G	18	36215511	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.94014597392039E-4	0.058
18	33795474	C	T	18	36215511	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.06441503866704E-5	0.002
18	33795475	C	A	18	36215512	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.34874268735978E-5	0.0
18	33795475	C	G	18	36215512	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.34874268735978E-5	0.0
18	33795475	C	T	18	36215512	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.99145741039419E-5	0.0
18	33795476	T	A	18	36215513	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0271278634707723	0.188
18	33795476	T	C	18	36215513	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.71036968370012E-4	0.0
18	33795476	T	G	18	36215513	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.22087420683925	0.548
18	33795477	A	C	18	36215514	y	y	splicing	MOCOS(NM_017947:exon8:c.1336-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1336-2A>C)	.	.	0.999964896440643	0.934
18	33795477	A	G	18	36215514	y	y	splicing	MOCOS(NM_017947:exon8:c.1336-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1336-2A>G)	.	.	0.999964896440643	0.934
18	33795477	A	T	18	36215514	y	y	splicing	MOCOS(NM_017947:exon8:c.1336-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1336-2A>T)	.	.	0.999946188727699	0.936
18	33795478	G	A	18	36215515	y	y	splicing	MOCOS(NM_017947:exon8:c.1336-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1336-1G>A)	.	.	0.999938990645747	0.946
18	33795478	G	C	18	36215515	y	y	splicing	MOCOS(NM_017947:exon8:c.1336-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1336-1G>C)	.	.	0.999938990645747	0.944
18	33795478	G	T	18	36215515	y	y	splicing	MOCOS(NM_017947:exon8:c.1336-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1336-1G>T)	.	.	0.999938990645747	0.946
18	33795479	G	A	18	36215516	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1336A:p.A446T;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.G1336A:p.A446T;	0.999351138025937	0.916
18	33795479	G	C	18	36215516	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1336C:p.A446P;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.G1336C:p.A446P;	0.999450366611669	0.966
18	33795479	G	T	18	36215516	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1336T:p.A446S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.G1336T:p.A446S;	0.999581600128737	0.974
18	33795480	C	A	18	36215517	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.C1337A:p.A446D;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.C1337A:p.A446D;	0.984685813748715	0.746
18	33795480	C	G	18	36215517	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.C1337G:p.A446G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.C1337G:p.A446G;	0.8894589637753	0.656
18	33795480	C	T	18	36215517	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.C1337T:p.A446V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.C1337T:p.A446V;	0.977223272099246	0.808
18	33795938	G	A	18	36215975	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1795A:p.E599K;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.G1795A:p.E599K;	0.103867328847886	0.274
18	33795938	G	C	18	36215975	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1795C:p.E599Q;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.G1795C:p.E599Q;	0.259045080598291	0.372
18	33795938	G	T	18	36215975	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon8:c.G1795T:p.E599X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon8:c.G1795T:p.E599X;	0.975307999188959	0.752
18	33795939	A	C	18	36215976	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.A1796C:p.E599A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.A1796C:p.E599A;	0.996700144222837	0.918
18	33795939	A	G	18	36215976	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.A1796G:p.E599G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.A1796G:p.E599G;	0.995538882566846	0.88
18	33795939	A	T	18	36215976	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.A1796T:p.E599V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.A1796T:p.E599V;	0.995814149764961	0.8
18	33795940	G	A	18	36215977	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon8:c.G1797A:p.E599E;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.G1797A:p.E599E;	0.954031174293428	0.858
18	33795940	G	C	18	36215977	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1797C:p.E599D;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.G1797C:p.E599D;	0.999952995002648	0.954
18	33795940	G	T	18	36215977	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon8:c.G1797T:p.E599D;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon8:c.G1797T:p.E599D;	0.99984510303658	0.994
18	33795941	G	A	18	36215978	y	y	splicing	MOCOS(NM_017947:exon8:c.1797+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1797+1G>A)	.	.	0.99994568797423	0.948
18	33795941	G	C	18	36215978	y	y	splicing	MOCOS(NM_017947:exon8:c.1797+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1797+1G>C)	.	.	0.99994568797423	0.952
18	33795941	G	T	18	36215978	y	y	splicing	MOCOS(NM_017947:exon8:c.1797+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1797+1G>T)	.	.	0.99994568797423	0.952
18	33795942	T	A	18	36215979	y	y	splicing	MOCOS(NM_017947:exon8:c.1797+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1797+2T>A)	.	.	0.999978278263889	0.944
18	33795942	T	C	18	36215979	y	y	splicing	MOCOS(NM_017947:exon8:c.1797+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1797+2T>C)	.	.	0.973402496610476	0.586
18	33795942	T	G	18	36215979	y	y	splicing	MOCOS(NM_017947:exon8:c.1797+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon8:c.1797+2T>G)	.	.	0.9999784785434	0.946
18	33795943	A	C	18	36215980	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.991833919393465	0.682
18	33795943	A	G	18	36215980	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00129699132247195	0.074
18	33795943	A	T	18	36215980	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.943970022592531	0.57
18	33795944	A	C	18	36215981	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.252558961152855	0.33
18	33795944	A	G	18	36215981	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.597186098357883	0.554
18	33795944	A	T	18	36215981	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.243825616364237	0.406
18	33795945	G	A	18	36215982	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.668253298896665	0.616
18	33795945	G	C	18	36215982	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.730068299045192	0.64
18	33795945	G	T	18	36215982	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.926965479428833	0.61
18	33795946	G	A	18	36215983	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.54796594511012E-5	0.008
18	33795946	G	C	18	36215983	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.32645962753449E-5	0.006
18	33795946	G	T	18	36215983	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.12297457574481E-5	0.002
18	33795947	A	C	18	36215984	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.93008933363103E-5	0.0
18	33795947	A	G	18	36215984	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.56864328490633E-5	0.0
18	33795947	A	T	18	36215984	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.22697460874762E-5	0.0
18	33795948	A	C	18	36215985	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.40839623268995E-5	0.0
18	33795948	A	G	18	36215985	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.78834437259813E-5	0.102
18	33795948	A	T	18	36215985	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.00577976857613E-5	0.002
18	33800006	C	A	18	36220043	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.96600594969911E-4	0.036
18	33800006	C	G	18	36220043	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.9476434247457E-4	0.024
18	33800006	C	T	18	36220043	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.27866702591957E-5	0.0
18	33800007	T	A	18	36220044	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.170935382573525	0.408
18	33800007	T	C	18	36220044	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00132016432010306	0.048
18	33800007	T	G	18	36220044	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.222496556679015	0.414
18	33800008	T	A	18	36220045	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.889465093941119	0.664
18	33800008	T	C	18	36220045	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00468374772478498	0.054
18	33800008	T	G	18	36220045	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.494602529367028	0.51
18	33800009	T	A	18	36220046	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00917239040267051	0.38
18	33800009	T	C	18	36220046	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.42298591142605E-4	0.014
18	33800009	T	G	18	36220046	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0579076569331751	0.462
18	33800010	T	A	18	36220047	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00610028350994428	0.266
18	33800010	T	C	18	36220047	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.99500638813732E-5	0.0
18	33800010	T	G	18	36220047	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.07368395534104E-4	0.198
18	33800011	T	A	18	36220048	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999842851034586	0.994
18	33800011	T	C	18	36220048	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.12048972019067E-4	0.002
18	33800011	T	G	18	36220048	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00132736914383743	0.17
18	33800012	G	A	18	36220049	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.6705705649202E-5	0.0
18	33800012	G	C	18	36220049	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.65203905436409E-5	0.004
18	33800012	G	T	18	36220049	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.66401231053052E-5	0.004
18	33800013	T	A	18	36220050	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.391254463850413	0.478
18	33800013	T	C	18	36220050	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0102508491961171	0.12
18	33800013	T	G	18	36220050	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.317212718461093	0.454
18	33800014	T	A	18	36220051	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.47279745794601E-5	0.0
18	33800014	T	C	18	36220051	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.4097798460229E-5	0.0
18	33800014	T	G	18	36220051	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.97076161435129E-5	0.004
18	33800015	T	A	18	36220052	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00100478972894066	0.094
18	33800015	T	C	18	36220052	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.75561759278916E-5	0.008
18	33800015	T	G	18	36220052	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.806812699755595	0.618
18	33800016	A	C	18	36220053	y	y	splicing	MOCOS(NM_017947:exon9:c.1798-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1798-2A>C)	.	.	0.999988247793601	0.932
18	33800016	A	G	18	36220053	y	y	splicing	MOCOS(NM_017947:exon9:c.1798-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1798-2A>G)	.	.	0.999988247793601	0.932
18	33800016	A	T	18	36220053	y	y	splicing	MOCOS(NM_017947:exon9:c.1798-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1798-2A>T)	.	.	0.999988247793601	0.932
18	33800017	G	A	18	36220054	y	y	splicing	MOCOS(NM_017947:exon9:c.1798-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1798-1G>A)	.	.	0.999990361384395	0.938
18	33800017	G	C	18	36220054	y	y	splicing	MOCOS(NM_017947:exon9:c.1798-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1798-1G>C)	.	.	0.999990361384395	0.938
18	33800017	G	T	18	36220054	y	y	splicing	MOCOS(NM_017947:exon9:c.1798-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1798-1G>T)	.	.	0.999990361384395	0.938
18	33800018	G	A	18	36220055	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.G1798A:p.V600M;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.G1798A:p.V600M;	0.995436833658676	0.94
18	33800018	G	C	18	36220055	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.G1798C:p.V600L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.G1798C:p.V600L;	0.999914609116948	0.954
18	33800018	G	T	18	36220055	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.G1798T:p.V600L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.G1798T:p.V600L;	0.99990354946404	0.962
18	33800019	T	A	18	36220056	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.T1799A:p.V600E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.T1799A:p.V600E;	0.565864349176663	0.624
18	33800019	T	C	18	36220056	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.T1799C:p.V600A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.T1799C:p.V600A;	0.419584787232611	0.622
18	33800019	T	G	18	36220056	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.T1799G:p.V600G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.T1799G:p.V600G;	0.565864349176663	0.622
18	33800178	A	C	18	36220215	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.A1958C:p.K653T;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.A1958C:p.K653T;	2.78506223605267E-4	0.008
18	33800178	A	G	18	36220215	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.A1958G:p.K653R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.A1958G:p.K653R;	0.0106232226174488	0.138
18	33800178	A	T	18	36220215	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.A1958T:p.K653I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.A1958T:p.K653I;	0.950578395214195	0.686
18	33800179	A	C	18	36220216	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.A1959C:p.K653N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.A1959C:p.K653N;	0.987325026718911	0.838
18	33800179	A	G	18	36220216	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon9:c.A1959G:p.K653K;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.A1959G:p.K653K;	0.998133941728865	0.766
18	33800179	A	T	18	36220216	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.A1959T:p.K653N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.A1959T:p.K653N;	0.999429364946948	0.974
18	33800180	G	A	18	36220217	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.G1960A:p.G654R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.G1960A:p.G654R;	0.999997011598461	0.998
18	33800180	G	C	18	36220217	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.G1960C:p.G654R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.G1960C:p.G654R;	0.999998122414291	0.994
18	33800180	G	T	18	36220217	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon9:c.G1960T:p.G654W;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon9:c.G1960T:p.G654W;	0.999993780042005	0.996
18	33800181	G	A	18	36220218	y	y	splicing	MOCOS(NM_017947:exon9:c.1960+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1960+1G>A)	.	.	0.999992425382947	0.942
18	33800181	G	C	18	36220218	y	y	splicing	MOCOS(NM_017947:exon9:c.1960+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1960+1G>C)	.	.	0.999992425382947	0.942
18	33800181	G	T	18	36220218	y	y	splicing	MOCOS(NM_017947:exon9:c.1960+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1960+1G>T)	.	.	0.999992425382947	0.942
18	33800182	T	A	18	36220219	y	y	splicing	MOCOS(NM_017947:exon9:c.1960+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1960+2T>A)	.	.	0.999990764389106	0.942
18	33800182	T	C	18	36220219	y	y	splicing	MOCOS(NM_017947:exon9:c.1960+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1960+2T>C)	.	.	0.999936210417551	0.884
18	33800182	T	G	18	36220219	y	y	splicing	MOCOS(NM_017947:exon9:c.1960+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon9:c.1960+2T>G)	.	.	0.999990764389106	0.942
18	33800183	G	A	18	36220220	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.64439801883764E-4	0.11
18	33800183	G	C	18	36220220	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0161056722175764	0.21
18	33800183	G	T	18	36220220	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00803195913215674	0.248
18	33800184	G	A	18	36220221	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.82643590355445E-4	0.134
18	33800184	G	C	18	36220221	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.17357965543613E-4	0.066
18	33800184	G	T	18	36220221	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.9531383833852E-4	0.092
18	33800185	G	A	18	36220222	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999980854607611	0.99
18	33800185	G	C	18	36220222	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999941371679111	0.982
18	33800185	G	T	18	36220222	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99997706871514	0.982
18	33800186	A	C	18	36220223	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.00594851311846E-4	0.08
18	33800186	A	G	18	36220223	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.001111633142315	0.18
18	33800186	A	T	18	36220223	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.00763498679011E-5	0.012
18	33800187	A	C	18	36220224	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00768656518878843	0.042
18	33800187	A	G	18	36220224	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00892634758609188	0.038
18	33800187	A	T	18	36220224	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00929982304221827	0.042
18	33800188	A	C	18	36220225	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.94803501924639E-5	0.0
18	33800188	A	G	18	36220225	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.94803501924639E-5	0.0
18	33800188	A	T	18	36220225	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.03765417231877E-5	0.0
18	33828873	T	A	18	36248910	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.808400235686481	0.536
18	33828873	T	C	18	36248910	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00136302238355451	0.116
18	33828873	T	G	18	36248910	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.594438353050644	0.55
18	33828874	T	A	18	36248911	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.667721594821661	0.442
18	33828874	T	C	18	36248911	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00132727046511524	0.072
18	33828874	T	G	18	36248911	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.576339517450932	0.516
18	33828875	T	A	18	36248912	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999936521094124	0.966
18	33828875	T	C	18	36248912	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.09115915336981E-4	0.12
18	33828875	T	G	18	36248912	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0217736682718884	0.38
18	33828876	G	A	18	36248913	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.60181186055987E-4	0.006
18	33828876	G	C	18	36248913	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.40029959298658E-5	0.0
18	33828876	G	T	18	36248913	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.74213353921879E-5	0.0
18	33828877	T	A	18	36248914	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0321599202579602	0.11
18	33828877	T	C	18	36248914	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.97578693663439E-5	0.01
18	33828877	T	G	18	36248914	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.013890346008338	0.166
18	33828878	T	A	18	36248915	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.34327071289212	0.344
18	33828878	T	C	18	36248915	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.68797820507902E-4	0.034
18	33828878	T	G	18	36248915	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.194602451253607	0.334
18	33828879	C	A	18	36248916	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00260002686894551	0.106
18	33828879	C	G	18	36248916	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00199088704711356	0.132
18	33828879	C	T	18	36248916	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.95776998704843E-5	0.004
18	33828880	A	C	18	36248917	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.13482987793317E-4	0.024
18	33828880	A	G	18	36248917	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.39320334930497E-4	0.016
18	33828880	A	T	18	36248917	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.1046083375632E-4	0.012
18	33828881	T	A	18	36248918	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.09389379062907E-5	0.0
18	33828881	T	C	18	36248918	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.01822916072354E-5	0.0
18	33828881	T	G	18	36248918	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.657765009392412	0.766
18	33828882	T	A	18	36248919	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.12847870463224	0.386
18	33828882	T	C	18	36248919	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.52899589931529E-5	0.002
18	33828882	T	G	18	36248919	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99810751017311	0.69
18	33828883	A	C	18	36248920	y	y	splicing	MOCOS(NM_017947:exon10:c.1961-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.1961-2A>C)	.	.	0.999989917668626	0.924
18	33828883	A	G	18	36248920	y	y	splicing	MOCOS(NM_017947:exon10:c.1961-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.1961-2A>G)	.	.	0.999989917668626	0.924
18	33828883	A	T	18	36248920	y	y	splicing	MOCOS(NM_017947:exon10:c.1961-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.1961-2A>T)	.	.	0.999989917668626	0.924
18	33828884	G	A	18	36248921	y	y	splicing	MOCOS(NM_017947:exon10:c.1961-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.1961-1G>A)	.	.	0.999986675681007	0.938
18	33828884	G	C	18	36248921	y	y	splicing	MOCOS(NM_017947:exon10:c.1961-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.1961-1G>C)	.	.	0.999986675681007	0.938
18	33828884	G	T	18	36248921	y	y	splicing	MOCOS(NM_017947:exon10:c.1961-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.1961-1G>T)	.	.	0.999986675681007	0.938
18	33828885	G	A	18	36248922	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.G1961A:p.G654E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G1961A:p.G654E;	0.999664289884412	0.902
18	33828885	G	C	18	36248922	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.G1961C:p.G654A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G1961C:p.G654A;	0.999816436228066	0.974
18	33828885	G	T	18	36248922	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.G1961T:p.G654V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G1961T:p.G654V;	0.999862374624895	0.994
18	33828886	G	A	18	36248923	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon10:c.G1962A:p.G654G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G1962A:p.G654G;	1.10114894107945E-4	0.02
18	33828886	G	C	18	36248923	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon10:c.G1962C:p.G654G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G1962C:p.G654G;	3.59577105642955E-4	0.016
18	33828886	G	T	18	36248923	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon10:c.G1962T:p.G654G;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G1962T:p.G654G;	2.16803334898387E-4	0.0
18	33828961	C	A	18	36248998	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.C2037A:p.D679E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.C2037A:p.D679E;	0.948405118049512	0.768
18	33828961	C	G	18	36248998	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.C2037G:p.D679E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.C2037G:p.D679E;	0.848595402994642	0.642
18	33828961	C	T	18	36248998	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon10:c.C2037T:p.D679D;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.C2037T:p.D679D;	0.898548092582861	0.698
18	33828962	A	C	18	36248999	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon10:c.A2038C:p.R680R;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.A2038C:p.R680R;	0.960882162263895	0.824
18	33828962	A	G	18	36248999	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.A2038G:p.R680G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.A2038G:p.R680G;	0.999518974173247	0.978
18	33828962	A	T	18	36248999	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon10:c.A2038T:p.R680X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon10:c.A2038T:p.R680X;	0.998559722708982	0.924
18	33828963	G	A	18	36249000	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.G2039A:p.R680K;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G2039A:p.R680K;	0.999950887127264	0.998
18	33828963	G	C	18	36249000	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.G2039C:p.R680T;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G2039C:p.R680T;	0.999994018449243	1.0
18	33828963	G	T	18	36249000	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon10:c.G2039T:p.R680I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon10:c.G2039T:p.R680I;	0.999914312575442	1.0
18	33828964	G	A	18	36249001	y	y	splicing	MOCOS(NM_017947:exon10:c.2039+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.2039+1G>A)	.	.	0.999986675681007	0.94
18	33828964	G	C	18	36249001	y	y	splicing	MOCOS(NM_017947:exon10:c.2039+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.2039+1G>C)	.	.	0.999986675681007	0.94
18	33828964	G	T	18	36249001	y	y	splicing	MOCOS(NM_017947:exon10:c.2039+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.2039+1G>T)	.	.	0.999986675681007	0.94
18	33828965	T	A	18	36249002	y	y	splicing	MOCOS(NM_017947:exon10:c.2039+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.2039+2T>A)	.	.	0.999989917668626	0.928
18	33828965	T	C	18	36249002	y	y	splicing	MOCOS(NM_017947:exon10:c.2039+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.2039+2T>C)	.	.	0.999927254940125	0.854
18	33828965	T	G	18	36249002	y	y	splicing	MOCOS(NM_017947:exon10:c.2039+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon10:c.2039+2T>G)	.	.	0.999989917668626	0.928
18	33828966	G	A	18	36249003	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.99529150191543E-4	0.0
18	33828966	G	C	18	36249003	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.423594604563263	0.572
18	33828966	G	T	18	36249003	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.617746713335007	0.566
18	33828967	A	C	18	36249004	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.996163635236682	0.876
18	33828967	A	G	18	36249004	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.994801715068456	0.884
18	33828967	A	T	18	36249004	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.993991721308627	0.82
18	33828968	G	A	18	36249005	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999465745310651	0.982
18	33828968	G	C	18	36249005	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999554929755963	0.922
18	33828968	G	T	18	36249005	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99855621618273	0.884
18	33828969	A	C	18	36249006	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.07599191973506E-4	0.05
18	33828969	A	G	18	36249006	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.04314332193049E-4	0.002
18	33828969	A	T	18	36249006	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.81474066388813E-5	0.004
18	33828970	C	A	18	36249007	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0101091846720573	0.04
18	33828970	C	G	18	36249007	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.018865027140524	0.044
18	33828970	C	T	18	36249007	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.017923636422606	0.094
18	33828971	T	A	18	36249008	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.018528648203886	0.162
18	33828971	T	C	18	36249008	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0237381951787056	0.102
18	33828971	T	G	18	36249008	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00756692659841391	0.088
18	33831110	C	A	18	36251147	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.88163627163044E-4	0.108
18	33831110	C	G	18	36251147	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.09707136274501E-5	0.012
18	33831110	C	T	18	36251147	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.46143133879751E-5	0.0
18	33831111	T	A	18	36251148	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0189052468134195	0.24
18	33831111	T	C	18	36251148	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00395021945370015	0.088
18	33831111	T	G	18	36251148	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00980068667172049	0.166
18	33831112	C	A	18	36251149	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00201107223812502	0.064
18	33831112	C	G	18	36251149	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.63272689723223E-4	0.024
18	33831112	C	T	18	36251149	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.45888849174248E-5	0.042
18	33831113	T	A	18	36251150	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00112840548599482	0.08
18	33831113	T	C	18	36251150	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.22834635008132E-4	0.016
18	33831113	T	G	18	36251150	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00102042325390635	0.112
18	33831114	T	A	18	36251151	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00247185289970365	0.058
18	33831114	T	C	18	36251151	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.85283205173609E-5	0.0
18	33831114	T	G	18	36251151	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00183148933851898	0.114
18	33831115	T	A	18	36251152	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00696597687555229	0.19
18	33831115	T	C	18	36251152	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.7827888271947E-4	0.07
18	33831115	T	G	18	36251152	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.010163189361335	0.134
18	33831116	T	A	18	36251153	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999942949446832	0.988
18	33831116	T	C	18	36251153	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.72627960107291E-5	0.0
18	33831116	T	G	18	36251153	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00207965867032921	0.078
18	33831117	G	A	18	36251154	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.42429764779522E-5	0.004
18	33831117	G	C	18	36251154	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.12279649357459E-5	0.016
18	33831117	G	T	18	36251154	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.47297026572104E-5	0.004
18	33831118	C	A	18	36251155	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.49520125433248E-5	0.0
18	33831118	C	G	18	36251155	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.27277111368566E-4	0.0
18	33831118	C	T	18	36251155	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.69913368335751E-5	0.002
18	33831119	C	A	18	36251156	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.998782713760372	0.734
18	33831119	C	G	18	36251156	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999787198852034	0.9
18	33831119	C	T	18	36251156	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0121983921789658	0.152
18	33831120	A	C	18	36251157	y	y	splicing	MOCOS(NM_017947:exon11:c.2040-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2040-2A>C)	.	.	0.999962958601995	0.838
18	33831120	A	G	18	36251157	y	y	splicing	MOCOS(NM_017947:exon11:c.2040-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2040-2A>G)	.	.	0.999962958601995	0.838
18	33831120	A	T	18	36251157	y	y	splicing	MOCOS(NM_017947:exon11:c.2040-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2040-2A>T)	.	.	0.999969255906173	0.85
18	33831121	G	A	18	36251158	y	y	splicing	MOCOS(NM_017947:exon11:c.2040-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2040-1G>A)	.	.	0.999962153403958	0.854
18	33831121	G	C	18	36251158	y	y	splicing	MOCOS(NM_017947:exon11:c.2040-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2040-1G>C)	.	.	0.999954401362567	0.86
18	33831121	G	T	18	36251158	y	y	splicing	MOCOS(NM_017947:exon11:c.2040-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2040-1G>T)	.	.	0.999962153403958	0.862
18	33831122	A	C	18	36251159	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.A2040C:p.R680S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2040C:p.R680S;	9.23186272401433E-4	0.088
18	33831122	A	G	18	36251159	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon11:c.A2040G:p.R680R;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2040G:p.R680R;	6.46127964958518E-5	0.006
18	33831122	A	T	18	36251159	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.A2040T:p.R680S;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2040T:p.R680S;	1.54952922668698E-4	0.042
18	33831123	G	A	18	36251160	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.G2041A:p.V681I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.G2041A:p.V681I;	0.0124402832164587	0.096
18	33831123	G	C	18	36251160	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.G2041C:p.V681L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.G2041C:p.V681L;	0.623487892412743	0.656
18	33831123	G	T	18	36251160	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.G2041T:p.V681L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.G2041T:p.V681L;	0.793329853835404	0.59
18	33831244	A	C	18	36251281	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.A2162C:p.K721T;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2162C:p.K721T;	0.784224657566168	0.688
18	33831244	A	G	18	36251281	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.A2162G:p.K721R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2162G:p.K721R;	0.590627701328647	0.428
18	33831244	A	T	18	36251281	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.A2162T:p.K721I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2162T:p.K721I;	0.99678287129457	0.854
18	33831245	A	C	18	36251282	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.A2163C:p.K721N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2163C:p.K721N;	0.999916530997262	0.998
18	33831245	A	G	18	36251282	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon11:c.A2163G:p.K721K;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2163G:p.K721K;	0.997332428217116	0.97
18	33831245	A	T	18	36251282	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.A2163T:p.K721N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.A2163T:p.K721N;	0.999973476808384	0.998
18	33831246	G	A	18	36251283	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.G2164A:p.D722N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.G2164A:p.D722N;	0.999994739750241	1.0
18	33831246	G	C	18	36251283	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.G2164C:p.D722H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.G2164C:p.D722H;	0.99999710683781	1.0
18	33831246	G	T	18	36251283	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon11:c.G2164T:p.D722Y;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon11:c.G2164T:p.D722Y;	0.999992019745572	1.0
18	33831247	G	A	18	36251284	y	y	splicing	MOCOS(NM_017947:exon11:c.2164+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2164+1G>A)	.	.	0.999985666489905	0.946
18	33831247	G	C	18	36251284	y	y	splicing	MOCOS(NM_017947:exon11:c.2164+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2164+1G>C)	.	.	0.999985666489905	0.946
18	33831247	G	T	18	36251284	y	y	splicing	MOCOS(NM_017947:exon11:c.2164+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2164+1G>T)	.	.	0.999985666489905	0.946
18	33831248	T	A	18	36251285	y	y	splicing	MOCOS(NM_017947:exon11:c.2164+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2164+2T>A)	.	.	0.999992076683048	0.94
18	33831248	T	C	18	36251285	y	y	splicing	MOCOS(NM_017947:exon11:c.2164+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2164+2T>C)	.	.	0.993026391190478	0.648
18	33831248	T	G	18	36251285	y	y	splicing	MOCOS(NM_017947:exon11:c.2164+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon11:c.2164+2T>G)	.	.	0.999992076683048	0.94
18	33831249	A	C	18	36251286	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999945396598876	0.976
18	33831249	A	G	18	36251286	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999828759295235	0.982
18	33831249	A	T	18	36251286	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999951387430904	0.988
18	33831250	T	A	18	36251287	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.04885337459963E-4	0.052
18	33831250	T	C	18	36251287	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.43082664443217E-5	0.036
18	33831250	T	G	18	36251287	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.23518239160257E-4	0.022
18	33831251	T	A	18	36251288	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.55815460790079E-4	0.042
18	33831251	T	C	18	36251288	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.41460469494336E-4	0.048
18	33831251	T	G	18	36251288	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.44402771520169E-4	0.058
18	33831252	A	C	18	36251289	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.61835679050015E-4	0.066
18	33831252	A	G	18	36251289	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.36795445822893E-4	0.132
18	33831252	A	T	18	36251289	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.95971644023648E-5	0.032
18	33831253	C	A	18	36251290	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.43468024588452E-4	0.09
18	33831253	C	G	18	36251290	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.9743867821295E-4	0.004
18	33831253	C	T	18	36251290	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.57803615889298E-4	0.002
18	33831254	A	C	18	36251291	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.8349469005702E-4	0.014
18	33831254	A	G	18	36251291	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.24917807852169E-4	0.006
18	33831254	A	T	18	36251291	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00206673474225579	0.038
18	33836919	C	A	18	36256956	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.13394291440643E-4	0.068
18	33836919	C	G	18	36256956	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.73039056743168E-4	0.068
18	33836919	C	T	18	36256956	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.54359325244071E-5	0.004
18	33836920	A	C	18	36256957	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.58218091221223E-5	0.0
18	33836920	A	G	18	36256957	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.7484814119914E-5	0.002
18	33836920	A	T	18	36256957	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.74199698323117E-5	0.082
18	33836921	T	A	18	36256958	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.336477827618227	0.47
18	33836921	T	C	18	36256958	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00126612474275312	0.074
18	33836921	T	G	18	36256958	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999969180760151	0.98
18	33836922	C	A	18	36256959	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.7831790703432E-4	0.006
18	33836922	C	G	18	36256959	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00267320035348469	0.03
18	33836922	C	T	18	36256959	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.5416267496394E-5	0.002
18	33836923	A	C	18	36256960	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.45301829050205E-5	0.008
18	33836923	A	G	18	36256960	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.42630805535328E-5	0.01
18	33836923	A	T	18	36256960	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.28518497629985E-5	0.0
18	33836924	T	A	18	36256961	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0308191274718795	0.152
18	33836924	T	C	18	36256961	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.49631219515143E-4	0.052
18	33836924	T	G	18	36256961	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999911551750157	0.998
18	33836925	T	A	18	36256962	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.133206934356757	0.37
18	33836925	T	C	18	36256962	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.42151246268961E-5	0.0
18	33836925	T	G	18	36256962	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.125125967473715	0.386
18	33836926	T	A	18	36256963	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.938195310075897	0.554
18	33836926	T	C	18	36256963	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0311699206369931	0.326
18	33836926	T	G	18	36256963	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.981881580816521	0.572
18	33836927	T	A	18	36256964	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.20632834721869E-5	0.0
18	33836927	T	C	18	36256964	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.08609590739114E-5	0.0
18	33836927	T	G	18	36256964	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.64947733228376E-5	0.002
18	33836928	C	A	18	36256965	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.552829281262058	0.63
18	33836928	C	G	18	36256965	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999851005849472	0.886
18	33836928	C	T	18	36256965	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00106387553493447	0.042
18	33836929	A	C	18	36256966	y	y	splicing	MOCOS(NM_017947:exon12:c.2165-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2165-2A>C)	.	.	0.99994568797423	0.96
18	33836929	A	G	18	36256966	y	y	splicing	MOCOS(NM_017947:exon12:c.2165-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2165-2A>G)	.	.	0.99994568797423	0.96
18	33836929	A	T	18	36256966	y	y	splicing	MOCOS(NM_017947:exon12:c.2165-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2165-2A>T)	.	.	0.99994568797423	0.948
18	33836930	G	A	18	36256967	y	y	splicing	MOCOS(NM_017947:exon12:c.2165-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2165-1G>A)	.	.	0.999961853837431	0.964
18	33836930	G	C	18	36256967	y	y	splicing	MOCOS(NM_017947:exon12:c.2165-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2165-1G>C)	.	.	0.99995338951104	0.964
18	33836930	G	T	18	36256967	y	y	splicing	MOCOS(NM_017947:exon12:c.2165-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2165-1G>T)	.	.	0.999961853837431	0.966
18	33836931	A	C	18	36256968	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.A2165C:p.D722A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.A2165C:p.D722A;	2.58980919767603E-4	0.14
18	33836931	A	G	18	36256968	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.A2165G:p.D722G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.A2165G:p.D722G;	3.94340278546822E-5	0.002
18	33836931	A	T	18	36256968	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.A2165T:p.D722V;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.A2165T:p.D722V;	0.00155848031044699	0.18
18	33836932	T	A	18	36256969	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.T2166A:p.D722E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.T2166A:p.D722E;	0.00262278354420059	0.182
18	33836932	T	C	18	36256969	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon12:c.T2166C:p.D722D;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.T2166C:p.D722D;	7.56019838948434E-4	0.096
18	33836932	T	G	18	36256969	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.T2166G:p.D722E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.T2166G:p.D722E;	0.00251570954229798	0.19
18	33837034	C	A	18	36257071	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon12:c.C2268A:p.T756T;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.C2268A:p.T756T;	3.21686890477109E-5	0.008
18	33837034	C	G	18	36257071	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon12:c.C2268G:p.T756T;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.C2268G:p.T756T;	3.97587400975576E-5	0.008
18	33837034	C	T	18	36257071	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon12:c.C2268T:p.T756T;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.C2268T:p.T756T;	2.28605656695482E-4	0.162
18	33837035	A	C	18	36257072	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.A2269C:p.S757R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.A2269C:p.S757R;	0.173873832093765	0.398
18	33837035	A	G	18	36257072	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.A2269G:p.S757G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.A2269G:p.S757G;	0.242957282751491	0.384
18	33837035	A	T	18	36257072	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.A2269T:p.S757C;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.A2269T:p.S757C;	0.34921589999035	0.406
18	33837036	G	A	18	36257073	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.G2270A:p.S757N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.G2270A:p.S757N;	0.99815803298898	0.922
18	33837036	G	C	18	36257073	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.G2270C:p.S757T;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.G2270C:p.S757T;	0.999576922886428	0.914
18	33837036	G	T	18	36257073	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon12:c.G2270T:p.S757I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon12:c.G2270T:p.S757I;	0.999410882123234	0.936
18	33837037	G	A	18	36257074	y	y	splicing	MOCOS(NM_017947:exon12:c.2270+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2270+1G>A)	.	.	0.999945520654368	0.942
18	33837037	G	C	18	36257074	y	y	splicing	MOCOS(NM_017947:exon12:c.2270+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2270+1G>C)	.	.	0.999925439713521	0.904
18	33837037	G	T	18	36257074	y	y	splicing	MOCOS(NM_017947:exon12:c.2270+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2270+1G>T)	.	.	0.999943620371814	0.94
18	33837038	T	A	18	36257075	y	y	splicing	MOCOS(NM_017947:exon12:c.2270+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2270+2T>A)	.	.	0.999978156327223	0.932
18	33837038	T	C	18	36257075	y	y	splicing	MOCOS(NM_017947:exon12:c.2270+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2270+2T>C)	.	.	0.973677198722573	0.56
18	33837038	T	G	18	36257075	y	y	splicing	MOCOS(NM_017947:exon12:c.2270+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon12:c.2270+2T>G)	.	.	0.999970104448312	0.87
18	33837039	A	C	18	36257076	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.790319174917108	0.574
18	33837039	A	G	18	36257076	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00207105839196213	0.134
18	33837039	A	T	18	36257076	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.896468887225028	0.588
18	33837040	A	C	18	36257077	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0418401259831246	0.296
18	33837040	A	G	18	36257077	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.110490195280214	0.396
18	33837040	A	T	18	36257077	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0455540294167729	0.284
18	33837041	G	A	18	36257078	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.468415193276183	0.502
18	33837041	G	C	18	36257078	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.55045023535753	0.54
18	33837041	G	T	18	36257078	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.664102678248073	0.546
18	33837042	A	C	18	36257079	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.66084013164852E-5	0.06
18	33837042	A	G	18	36257079	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.15766814959143E-5	0.03
18	33837042	A	T	18	36257079	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.09434580664128E-5	0.0
18	33837043	C	A	18	36257080	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.72381571200634E-5	0.0
18	33837043	C	G	18	36257080	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.72381571200634E-5	0.0
18	33837043	C	T	18	36257080	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.72381571200634E-5	0.0
18	33837044	C	A	18	36257081	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.5364181533214E-5	0.0
18	33837044	C	G	18	36257081	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.5364181533214E-5	0.0
18	33837044	C	T	18	36257081	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.5364181533214E-5	0.0
18	33839988	T	A	18	36260025	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999905011514461	0.972
18	33839988	T	C	18	36260025	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.684123309018E-4	0.096
18	33839988	T	G	18	36260025	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0809950882666369	0.54
18	33839989	G	A	18	36260026	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00358856986328358	0.116
18	33839989	G	C	18	36260026	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.94577226866018E-4	0.018
18	33839989	G	T	18	36260026	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.73954858352344E-4	0.072
18	33839990	C	A	18	36260027	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00201835823427139	0.094
18	33839990	C	G	18	36260027	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.30892745608346E-4	0.086
18	33839990	C	T	18	36260027	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.32536739571095E-5	0.004
18	33839991	T	A	18	36260028	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.29495277047177	0.464
18	33839991	T	C	18	36260028	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.91918182951655E-4	0.022
18	33839991	T	G	18	36260028	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0567901516569845	0.292
18	33839992	T	A	18	36260029	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0843943346766511	0.356
18	33839992	T	C	18	36260029	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.03284056150071E-5	0.016
18	33839992	T	G	18	36260029	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00183635291334441	0.276
18	33839993	T	A	18	36260030	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.067431614875357	0.422
18	33839993	T	C	18	36260030	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.19519459801297E-5	0.068
18	33839993	T	G	18	36260030	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.036708572389083	0.33
18	33839994	A	C	18	36260031	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.67944982512943E-5	0.0
18	33839994	A	G	18	36260031	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.92353893029425E-6	0.002
18	33839994	A	T	18	36260031	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.67944982512943E-5	0.0
18	33839995	A	C	18	36260032	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.4216018876138E-5	0.008
18	33839995	A	G	18	36260032	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.99965518518639	0.978
18	33839995	A	T	18	36260032	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.8115442526152E-5	0.022
18	33839996	T	A	18	36260033	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.50722075186259E-5	0.002
18	33839996	T	C	18	36260033	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.76413994935168E-5	0.0
18	33839996	T	G	18	36260033	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.93063547811448	0.6
18	33839997	C	A	18	36260034	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.995371227610515	0.888
18	33839997	C	G	18	36260034	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999675577794757	0.73
18	33839997	C	T	18	36260034	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00185897342875039	0.204
18	33839998	A	C	18	36260035	y	y	splicing	MOCOS(NM_017947:exon13:c.2271-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2271-2A>C)	.	.	0.99995820954749	0.868
18	33839998	A	G	18	36260035	y	y	splicing	MOCOS(NM_017947:exon13:c.2271-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2271-2A>G)	.	.	0.99995820954749	0.866
18	33839998	A	T	18	36260035	y	y	splicing	MOCOS(NM_017947:exon13:c.2271-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2271-2A>T)	.	.	0.999965314197099	0.874
18	33839999	G	A	18	36260036	y	y	splicing	MOCOS(NM_017947:exon13:c.2271-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2271-1G>A)	.	.	0.999967746753559	0.884
18	33839999	G	C	18	36260036	y	y	splicing	MOCOS(NM_017947:exon13:c.2271-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2271-1G>C)	.	.	0.999961140342083	0.874
18	33839999	G	T	18	36260036	y	y	splicing	MOCOS(NM_017947:exon13:c.2271-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2271-1G>T)	.	.	0.999968226231568	0.882
18	33840000	T	A	18	36260037	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.T2271A:p.S757R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.T2271A:p.S757R;	1.88918377482644E-5	0.02
18	33840000	T	C	18	36260037	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon13:c.T2271C:p.S757S;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.T2271C:p.S757S;	6.51518502647976E-5	0.004
18	33840000	T	G	18	36260037	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.T2271G:p.S757R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.T2271G:p.S757R;	1.00196196572069E-4	0.076
18	33840001	G	A	18	36260038	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.G2272A:p.D758N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.G2272A:p.D758N;	0.0011574515973734	0.084
18	33840001	G	C	18	36260038	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.G2272C:p.D758H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.G2272C:p.D758H;	1.9850514537201E-4	0.018
18	33840001	G	T	18	36260038	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.G2272T:p.D758Y;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.G2272T:p.D758Y;	2.70743365086007E-4	0.116
18	33840136	C	A	18	36260173	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.C2407A:p.Q803K;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.C2407A:p.Q803K;	0.00371400866479658	0.1
18	33840136	C	G	18	36260173	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.C2407G:p.Q803E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.C2407G:p.Q803E;	0.00945355859173438	0.082
18	33840136	C	T	18	36260173	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon13:c.C2407T:p.Q803X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon13:c.C2407T:p.Q803X;	0.99870556498749	0.778
18	33840137	A	C	18	36260174	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.A2408C:p.Q803P;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.A2408C:p.Q803P;	0.960804385703732	0.644
18	33840137	A	G	18	36260174	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.A2408G:p.Q803R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.A2408G:p.Q803R;	0.86971175297424	0.51
18	33840137	A	T	18	36260174	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.A2408T:p.Q803L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.A2408T:p.Q803L;	0.111372323021312	0.38
18	33840138	G	A	18	36260175	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon13:c.G2409A:p.Q803Q;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.G2409A:p.Q803Q;	0.734842164485417	0.516
18	33840138	G	C	18	36260175	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.G2409C:p.Q803H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.G2409C:p.Q803H;	0.99963083324105	0.89
18	33840138	G	T	18	36260175	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon13:c.G2409T:p.Q803H;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon13:c.G2409T:p.Q803H;	0.999703430473337	0.924
18	33840139	G	A	18	36260176	y	y	splicing	MOCOS(NM_017947:exon13:c.2409+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2409+1G>A)	.	.	0.999949962508874	0.946
18	33840139	G	C	18	36260176	y	y	splicing	MOCOS(NM_017947:exon13:c.2409+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2409+1G>C)	.	.	0.999949962508874	0.938
18	33840139	G	T	18	36260176	y	y	splicing	MOCOS(NM_017947:exon13:c.2409+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2409+1G>T)	.	.	0.999949962508874	0.944
18	33840140	T	A	18	36260177	y	y	splicing	MOCOS(NM_017947:exon13:c.2409+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2409+2T>A)	.	.	0.999946188727699	0.946
18	33840140	T	C	18	36260177	y	y	splicing	MOCOS(NM_017947:exon13:c.2409+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2409+2T>C)	.	.	0.953408765322961	0.64
18	33840140	T	G	18	36260177	y	y	splicing	MOCOS(NM_017947:exon13:c.2409+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon13:c.2409+2T>G)	.	.	0.999946188727699	0.936
18	33840141	A	C	18	36260178	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.58990206275069	0.512
18	33840141	A	G	18	36260178	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.1027803906146E-4	0.032
18	33840141	A	T	18	36260178	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.206984588033803	0.572
18	33840142	A	C	18	36260179	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00951833315664348	0.282
18	33840142	A	G	18	36260179	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0452434531262968	0.38
18	33840142	A	T	18	36260179	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0194304305655505	0.246
18	33840143	G	A	18	36260180	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.940755655099825	0.638
18	33840143	G	C	18	36260180	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.902406702306885	0.53
18	33840143	G	T	18	36260180	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.947095845768838	0.572
18	33840144	T	A	18	36260181	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00900141271596539	0.244
18	33840144	T	C	18	36260181	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0240367879007196	0.224
18	33840144	T	G	18	36260181	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00117136078029743	0.146
18	33840145	T	A	18	36260182	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.86764315709017E-5	0.0
18	33840145	T	C	18	36260182	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.86764315709017E-5	0.0
18	33840145	T	G	18	36260182	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.86764315709017E-5	0.0
18	33840146	T	A	18	36260183	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.52297880296295E-5	0.0
18	33840146	T	C	18	36260183	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.52297880296295E-5	0.0
18	33840146	T	G	18	36260183	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.52297880296295E-5	0.0
18	33846700	C	A	18	36266737	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.906102858823693	0.642
18	33846700	C	G	18	36266737	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.871458196485198	0.63
18	33846700	C	T	18	36266737	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.935260945661313	0.69
18	33846701	T	A	18	36266738	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.982168031971846	0.746
18	33846701	T	C	18	36266738	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0359766256143862	0.208
18	33846701	T	G	18	36266738	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.875803551769288	0.634
18	33846702	C	A	18	36266739	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.905311795568485	0.646
18	33846702	C	G	18	36266739	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.988579353149826	0.646
18	33846702	C	T	18	36266739	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.918133905749729	0.682
18	33846703	A	C	18	36266740	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.25488673393978E-4	0.02
18	33846703	A	G	18	36266740	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	8.37372318321856E-5	0.03
18	33846703	A	T	18	36266740	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.06879980113877E-4	0.036
18	33846704	C	A	18	36266741	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00955253828885756	0.084
18	33846704	C	G	18	36266741	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999716022029792	0.94
18	33846704	C	T	18	36266741	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.87764701394418E-4	0.01
18	33846705	C	A	18	36266742	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.08623196652535E-4	0.098
18	33846705	C	G	18	36266742	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.75814111929065E-4	0.044
18	33846705	C	T	18	36266742	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.63176463573252E-5	0.0
18	33846706	T	A	18	36266743	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.999875791535246	0.91
18	33846706	T	C	18	36266743	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.49161763346653E-4	0.002
18	33846706	T	G	18	36266743	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.018787372066675	0.4
18	33846707	G	A	18	36266744	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.86233648587742E-4	0.026
18	33846707	G	C	18	36266744	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.87650343569516E-4	0.022
18	33846707	G	T	18	36266744	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.14595018044317E-5	0.022
18	33846708	C	A	18	36266745	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.96467122971344E-5	0.0
18	33846708	C	G	18	36266745	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.49358535769675E-5	0.002
18	33846708	C	T	18	36266745	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.57818487085502E-5	0.0
18	33846709	C	A	18	36266746	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.84595232252275	0.638
18	33846709	C	G	18	36266746	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.997099979784622	0.878
18	33846709	C	T	18	36266746	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00979036202699604	0.022
18	33846710	A	C	18	36266747	y	y	splicing	MOCOS(NM_017947:exon14:c.2410-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2410-2A>C)	.	.	0.999988247793601	0.93
18	33846710	A	G	18	36266747	y	y	splicing	MOCOS(NM_017947:exon14:c.2410-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2410-2A>G)	.	.	0.999988247793601	0.93
18	33846710	A	T	18	36266747	y	y	splicing	MOCOS(NM_017947:exon14:c.2410-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2410-2A>T)	.	.	0.999988247793601	0.932
18	33846711	G	A	18	36266748	y	y	splicing	MOCOS(NM_017947:exon14:c.2410-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2410-1G>A)	.	.	0.999990361384395	0.938
18	33846711	G	C	18	36266748	y	y	splicing	MOCOS(NM_017947:exon14:c.2410-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2410-1G>C)	.	.	0.999990361384395	0.936
18	33846711	G	T	18	36266748	y	y	splicing	MOCOS(NM_017947:exon14:c.2410-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2410-1G>T)	.	.	0.999990361384395	0.938
18	33846712	G	A	18	36266749	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.G2410A:p.V804I;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.G2410A:p.V804I;	0.999093321842533	0.896
18	33846712	G	C	18	36266749	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.G2410C:p.V804L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.G2410C:p.V804L;	0.999848740077317	0.986
18	33846712	G	T	18	36266749	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.G2410T:p.V804F;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.G2410T:p.V804F;	0.999882491394801	0.968
18	33846713	T	A	18	36266750	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.T2411A:p.V804D;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.T2411A:p.V804D;	0.484971838824751	0.534
18	33846713	T	C	18	36266750	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.T2411C:p.V804A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.T2411C:p.V804A;	0.60868771966783	0.544
18	33846713	T	G	18	36266750	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.T2411G:p.V804G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.T2411G:p.V804G;	0.619094915198088	0.488
18	33846814	A	C	18	36266851	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.A2512C:p.K838Q;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.A2512C:p.K838Q;	0.00118338083033968	0.078
18	33846814	A	G	18	36266851	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.A2512G:p.K838E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.A2512G:p.K838E;	0.00547637391573845	0.032
18	33846814	A	T	18	36266851	y	y	exonic	MOCOS	stopgain SNV	MOCOS:NM_017947:exon14:c.A2512T:p.K838X;	exonic	ENSG00000075643	stopgain SNV	ENSG00000075643:ENST00000261326:exon14:c.A2512T:p.K838X;	0.17855871717844	0.334
18	33846815	A	C	18	36266852	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.A2513C:p.K838T;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.A2513C:p.K838T;	0.972617243935695	0.838
18	33846815	A	G	18	36266852	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.A2513G:p.K838R;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.A2513G:p.K838R;	0.955799236767478	0.71
18	33846815	A	T	18	36266852	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.A2513T:p.K838M;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.A2513T:p.K838M;	0.978722611915875	0.612
18	33846816	G	A	18	36266853	y	y	exonic	MOCOS	synonymous SNV	MOCOS:NM_017947:exon14:c.G2514A:p.K838K;	exonic	ENSG00000075643	synonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.G2514A:p.K838K;	0.338971982987207	0.512
18	33846816	G	C	18	36266853	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.G2514C:p.K838N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.G2514C:p.K838N;	0.958951094055748	0.66
18	33846816	G	T	18	36266853	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon14:c.G2514T:p.K838N;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon14:c.G2514T:p.K838N;	0.96518315719443	0.798
18	33846817	G	A	18	36266854	y	y	splicing	MOCOS(NM_017947:exon14:c.2514+1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2514+1G>A)	.	.	0.999970205305079	0.926
18	33846817	G	C	18	36266854	y	y	splicing	MOCOS(NM_017947:exon14:c.2514+1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2514+1G>C)	.	.	0.999976475802857	0.91
18	33846817	G	T	18	36266854	y	y	splicing	MOCOS(NM_017947:exon14:c.2514+1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2514+1G>T)	.	.	0.999960597114489	0.908
18	33846818	T	A	18	36266855	y	y	splicing	MOCOS(NM_017947:exon14:c.2514+2T>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2514+2T>A)	.	.	0.999951957019574	0.918
18	33846818	T	C	18	36266855	y	y	splicing	MOCOS(NM_017947:exon14:c.2514+2T>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2514+2T>C)	.	.	0.967788928859094	0.6
18	33846818	T	G	18	36266855	y	y	splicing	MOCOS(NM_017947:exon14:c.2514+2T>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon14:c.2514+2T>G)	.	.	0.999971317418422	0.896
18	33846819	A	C	18	36266856	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.397781617380945	0.486
18	33846819	A	G	18	36266856	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.47806908000565E-4	0.012
18	33846819	A	T	18	36266856	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.611197852557092	0.442
18	33846820	A	C	18	36266857	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0204813854722578	0.338
18	33846820	A	G	18	36266857	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0254476183210668	0.362
18	33846820	A	T	18	36266857	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0241901934087396	0.364
18	33846821	G	A	18	36266858	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.958830565288453	0.582
18	33846821	G	C	18	36266858	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.914979142922846	0.572
18	33846821	G	T	18	36266858	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.995098613381255	0.61
18	33846822	C	A	18	36266859	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.79190259972615E-5	0.004
18	33846822	C	G	18	36266859	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	7.34232368865125E-5	0.028
18	33846822	C	T	18	36266859	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.27548350319013E-5	0.0
18	33846823	G	A	18	36266860	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.83320898566216E-5	0.0
18	33846823	G	C	18	36266860	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.83320898566216E-5	0.0
18	33846823	G	T	18	36266860	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.32129412785724E-5	0.0
18	33846824	T	A	18	36266861	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.34169129164581E-5	0.034
18	33846824	T	C	18	36266861	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.09332237519757E-5	0.022
18	33846824	T	G	18	36266861	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.34169129164581E-5	0.026
18	33848484	T	A	18	36268521	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00349489927700023	0.09
18	33848484	T	C	18	36268521	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	6.98743902443893E-5	0.0
18	33848484	T	G	18	36268521	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00247225002405358	0.082
18	33848485	T	A	18	36268522	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.355727725620421	0.408
18	33848485	T	C	18	36268522	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	5.55829803342408E-4	0.068
18	33848485	T	G	18	36268522	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.147816648574228	0.436
18	33848486	T	A	18	36268523	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.342859718669103	0.51
18	33848486	T	C	18	36268523	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.12220839043903E-4	0.036
18	33848486	T	G	18	36268523	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.077662754225955	0.398
18	33848487	T	A	18	36268524	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.992307993679891	0.958
18	33848487	T	C	18	36268524	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.53640504198769E-5	0.0
18	33848487	T	G	18	36268524	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.00117490654474939	0.05
18	33848488	G	A	18	36268525	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.67810707131059E-5	0.006
18	33848488	G	C	18	36268525	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.52692622179733E-5	0.004
18	33848488	G	T	18	36268525	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.05296130933989E-5	0.0
18	33848489	T	A	18	36268526	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.247427508962046	0.494
18	33848489	T	C	18	36268526	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.1407609183636E-4	0.008
18	33848489	T	G	18	36268526	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.144087468400745	0.41
18	33848490	T	A	18	36268527	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0307057441982565	0.27
18	33848490	T	C	18	36268527	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	9.22318452804233E-5	0.002
18	33848490	T	G	18	36268527	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0316378389327082	0.3
18	33848491	C	A	18	36268528	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.61822470738058E-4	0.126
18	33848491	C	G	18	36268528	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	4.82551733221393E-4	0.132
18	33848491	C	T	18	36268528	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.82547497879499E-4	0.018
18	33848492	A	C	18	36268529	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	1.58067932214739E-5	0.002
18	33848492	A	G	18	36268529	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	2.74364292996766E-5	0.002
18	33848492	A	T	18	36268529	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	3.03265030618804E-5	0.008
18	33848493	C	A	18	36268530	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.606837389929014	0.386
18	33848493	C	G	18	36268530	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.998631825177091	0.938
18	33848493	C	T	18	36268530	y	y	intronic	MOCOS	.	.	intronic	ENSG00000075643	.	.	0.0246796733873599	0.184
18	33848494	A	C	18	36268531	y	y	splicing	MOCOS(NM_017947:exon15:c.2515-2A>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon15:c.2515-2A>C)	.	.	0.999988247793601	0.926
18	33848494	A	G	18	36268531	y	y	splicing	MOCOS(NM_017947:exon15:c.2515-2A>G)	.	.	splicing	ENSG00000075643(ENST00000261326:exon15:c.2515-2A>G)	.	.	0.999988247793601	0.926
18	33848494	A	T	18	36268531	y	y	splicing	MOCOS(NM_017947:exon15:c.2515-2A>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon15:c.2515-2A>T)	.	.	0.999988247793601	0.926
18	33848495	G	A	18	36268532	y	y	splicing	MOCOS(NM_017947:exon15:c.2515-1G>A)	.	.	splicing	ENSG00000075643(ENST00000261326:exon15:c.2515-1G>A)	.	.	0.999990361384395	0.936
18	33848495	G	C	18	36268532	y	y	splicing	MOCOS(NM_017947:exon15:c.2515-1G>C)	.	.	splicing	ENSG00000075643(ENST00000261326:exon15:c.2515-1G>C)	.	.	0.999990361384395	0.936
18	33848495	G	T	18	36268532	y	y	splicing	MOCOS(NM_017947:exon15:c.2515-1G>T)	.	.	splicing	ENSG00000075643(ENST00000261326:exon15:c.2515-1G>T)	.	.	0.999990361384395	0.936
18	33848496	G	A	18	36268533	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon15:c.G2515A:p.V839M;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon15:c.G2515A:p.V839M;	0.998887621821441	0.75
18	33848496	G	C	18	36268533	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon15:c.G2515C:p.V839L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon15:c.G2515C:p.V839L;	0.999713797495573	0.948
18	33848496	G	T	18	36268533	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon15:c.G2515T:p.V839L;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon15:c.G2515T:p.V839L;	0.999818785284649	0.96
18	33848497	T	A	18	36268534	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon15:c.T2516A:p.V839E;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon15:c.T2516A:p.V839E;	0.707706899877611	0.6
18	33848497	T	C	18	36268534	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon15:c.T2516C:p.V839A;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon15:c.T2516C:p.V839A;	0.586328236488263	0.62
18	33848497	T	G	18	36268534	y	y	exonic	MOCOS	nonsynonymous SNV	MOCOS:NM_017947:exon15:c.T2516G:p.V839G;	exonic	ENSG00000075643	nonsynonymous SNV	ENSG00000075643:ENST00000261326:exon15:c.T2516G:p.V839G;	0.619242543329602	0.618
18	33877961	A	C	18	36297998	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon1:c.A163C:p.K55Q;FHOD3:NM_001281740:exon1:c.A163C:p.K55Q;FHOD3:NM_001281739:exon1:c.A163C:p.K55Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon1:c.A163C:p.K55Q;ENSG00000134775:ENST00000257209:exon1:c.A163C:p.K55Q;ENSG00000134775:ENST00000590592:exon1:c.A163C:p.K55Q;ENSG00000134775:ENST00000445677:exon1:c.A163C:p.K55Q;	0.00227551799848023	0.064
18	33877961	A	G	18	36297998	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon1:c.A163G:p.K55E;FHOD3:NM_001281740:exon1:c.A163G:p.K55E;FHOD3:NM_001281739:exon1:c.A163G:p.K55E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon1:c.A163G:p.K55E;ENSG00000134775:ENST00000257209:exon1:c.A163G:p.K55E;ENSG00000134775:ENST00000590592:exon1:c.A163G:p.K55E;ENSG00000134775:ENST00000445677:exon1:c.A163G:p.K55E;	0.00571783391848691	0.172
18	33877961	A	T	18	36297998	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon1:c.A163T:p.K55X;FHOD3:NM_001281740:exon1:c.A163T:p.K55X;FHOD3:NM_001281739:exon1:c.A163T:p.K55X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon1:c.A163T:p.K55X;ENSG00000134775:ENST00000257209:exon1:c.A163T:p.K55X;ENSG00000134775:ENST00000590592:exon1:c.A163T:p.K55X;ENSG00000134775:ENST00000445677:exon1:c.A163T:p.K55X;	0.861178101281921	0.66
18	33877962	A	C	18	36297999	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon1:c.A164C:p.K55T;FHOD3:NM_001281740:exon1:c.A164C:p.K55T;FHOD3:NM_001281739:exon1:c.A164C:p.K55T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon1:c.A164C:p.K55T;ENSG00000134775:ENST00000257209:exon1:c.A164C:p.K55T;ENSG00000134775:ENST00000590592:exon1:c.A164C:p.K55T;ENSG00000134775:ENST00000445677:exon1:c.A164C:p.K55T;	0.836350488546258	0.852
18	33877962	A	G	18	36297999	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon1:c.A164G:p.K55R;FHOD3:NM_001281740:exon1:c.A164G:p.K55R;FHOD3:NM_001281739:exon1:c.A164G:p.K55R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon1:c.A164G:p.K55R;ENSG00000134775:ENST00000257209:exon1:c.A164G:p.K55R;ENSG00000134775:ENST00000590592:exon1:c.A164G:p.K55R;ENSG00000134775:ENST00000445677:exon1:c.A164G:p.K55R;	0.921534932035401	0.754
18	33877962	A	T	18	36297999	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon1:c.A164T:p.K55M;FHOD3:NM_001281740:exon1:c.A164T:p.K55M;FHOD3:NM_001281739:exon1:c.A164T:p.K55M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon1:c.A164T:p.K55M;ENSG00000134775:ENST00000257209:exon1:c.A164T:p.K55M;ENSG00000134775:ENST00000590592:exon1:c.A164T:p.K55M;ENSG00000134775:ENST00000445677:exon1:c.A164T:p.K55M;	0.967030541756758	0.876
18	33877963	G	A	18	36298000	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon1:c.G165A:p.K55K;FHOD3:NM_001281740:exon1:c.G165A:p.K55K;FHOD3:NM_001281739:exon1:c.G165A:p.K55K;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon1:c.G165A:p.K55K;ENSG00000134775:ENST00000257209:exon1:c.G165A:p.K55K;ENSG00000134775:ENST00000590592:exon1:c.G165A:p.K55K;ENSG00000134775:ENST00000445677:exon1:c.G165A:p.K55K;	0.999647750297311	0.974
18	33877963	G	C	18	36298000	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon1:c.G165C:p.K55N;FHOD3:NM_001281740:exon1:c.G165C:p.K55N;FHOD3:NM_001281739:exon1:c.G165C:p.K55N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon1:c.G165C:p.K55N;ENSG00000134775:ENST00000257209:exon1:c.G165C:p.K55N;ENSG00000134775:ENST00000590592:exon1:c.G165C:p.K55N;ENSG00000134775:ENST00000445677:exon1:c.G165C:p.K55N;	0.999993721651909	0.954
18	33877963	G	T	18	36298000	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon1:c.G165T:p.K55N;FHOD3:NM_001281740:exon1:c.G165T:p.K55N;FHOD3:NM_001281739:exon1:c.G165T:p.K55N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon1:c.G165T:p.K55N;ENSG00000134775:ENST00000257209:exon1:c.G165T:p.K55N;ENSG00000134775:ENST00000590592:exon1:c.G165T:p.K55N;ENSG00000134775:ENST00000445677:exon1:c.G165T:p.K55N;	0.999979938917149	0.996
18	33877964	G	A	18	36298001	y	y	splicing	FHOD3(NM_025135:exon1:c.165+1G>A;NM_001281740:exon1:c.165+1G>A;NM_001281739:exon1:c.165+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon1:c.165+1G>A;ENST00000445677:exon1:c.165+1G>A;ENST00000359247:exon1:c.165+1G>A;ENST00000590592:exon1:c.165+1G>A)	.	.	0.999972457103498	0.942
18	33877964	G	C	18	36298001	y	y	splicing	FHOD3(NM_025135:exon1:c.165+1G>C;NM_001281740:exon1:c.165+1G>C;NM_001281739:exon1:c.165+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon1:c.165+1G>C;ENST00000445677:exon1:c.165+1G>C;ENST00000359247:exon1:c.165+1G>C;ENST00000590592:exon1:c.165+1G>C)	.	.	0.999972457103498	0.94
18	33877964	G	T	18	36298001	y	y	splicing	FHOD3(NM_025135:exon1:c.165+1G>T;NM_001281740:exon1:c.165+1G>T;NM_001281739:exon1:c.165+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon1:c.165+1G>T;ENST00000445677:exon1:c.165+1G>T;ENST00000359247:exon1:c.165+1G>T;ENST00000590592:exon1:c.165+1G>T)	.	.	0.999972457103498	0.942
18	33877965	T	A	18	36298002	y	y	splicing	FHOD3(NM_025135:exon1:c.165+2T>A;NM_001281740:exon1:c.165+2T>A;NM_001281739:exon1:c.165+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon1:c.165+2T>A;ENST00000445677:exon1:c.165+2T>A;ENST00000359247:exon1:c.165+2T>A;ENST00000590592:exon1:c.165+2T>A)	.	.	0.999972482390482	0.944
18	33877965	T	C	18	36298002	y	y	splicing	FHOD3(NM_025135:exon1:c.165+2T>C;NM_001281740:exon1:c.165+2T>C;NM_001281739:exon1:c.165+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon1:c.165+2T>C;ENST00000445677:exon1:c.165+2T>C;ENST00000359247:exon1:c.165+2T>C;ENST00000590592:exon1:c.165+2T>C)	.	.	0.938290889610805	0.546
18	33877965	T	G	18	36298002	y	y	splicing	FHOD3(NM_025135:exon1:c.165+2T>G;NM_001281740:exon1:c.165+2T>G;NM_001281739:exon1:c.165+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon1:c.165+2T>G;ENST00000445677:exon1:c.165+2T>G;ENST00000359247:exon1:c.165+2T>G;ENST00000590592:exon1:c.165+2T>G)	.	.	0.999972736107851	0.944
18	33877966	A	C	18	36298003	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.973637073978729	0.832
18	33877966	A	G	18	36298003	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.297275822979947	0.456
18	33877966	A	T	18	36298003	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.988044575201281	0.722
18	33877967	C	A	18	36298004	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.66489342709984E-4	0.08
18	33877967	C	G	18	36298004	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.32570216900636E-4	0.004
18	33877967	C	T	18	36298004	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.72127740030336E-5	0.006
18	33877968	G	A	18	36298005	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.238729604392862	0.362
18	33877968	G	C	18	36298005	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0797147153474463	0.326
18	33877968	G	T	18	36298005	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.093660000088952	0.284
18	33877969	A	C	18	36298006	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.50372234353654E-5	0.012
18	33877969	A	G	18	36298006	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.42320830991243E-5	0.002
18	33877969	A	T	18	36298006	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.65384719650273E-5	0.002
18	33877970	C	A	18	36298007	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.70467166229842E-6	0.006
18	33877970	C	G	18	36298007	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.1720466914484E-6	0.002
18	33877970	C	T	18	36298007	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.1720466914484E-6	0.022
18	33877971	C	A	18	36298008	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.92133118385712E-5	0.022
18	33877971	C	G	18	36298008	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.92133118385712E-5	0.024
18	33877971	C	T	18	36298008	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.92133118385712E-5	0.022
18	33935490	T	A	18	36355527	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0252130474617645	0.108
18	33935490	T	C	18	36355527	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00302606526049506	0.006
18	33935490	T	G	18	36355527	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0167032175198347	0.102
18	33935491	T	A	18	36355528	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00584893931084062	0.126
18	33935491	T	C	18	36355528	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.94634636013283E-4	0.068
18	33935491	T	G	18	36355528	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00972004550105519	0.15
18	33935492	T	A	18	36355529	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.962887826317973	0.668
18	33935492	T	C	18	36355529	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.64506021441731	0.434
18	33935492	T	G	18	36355529	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.929755903846018	0.588
18	33935493	C	A	18	36355530	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00498369654614949	0.2
18	33935493	C	G	18	36355530	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00360836217765097	0.086
18	33935493	C	T	18	36355530	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.60948949170437E-4	0.044
18	33935494	T	A	18	36355531	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.93103370815049	0.63
18	33935494	T	C	18	36355531	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0519594095100596	0.498
18	33935494	T	G	18	36355531	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.711307823557499	0.544
18	33935495	C	A	18	36355532	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.357351433645382	0.316
18	33935495	C	G	18	36355532	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.328168847935621	0.296
18	33935495	C	T	18	36355532	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00389166526150411	0.088
18	33935496	T	A	18	36355533	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.403804789078342	0.508
18	33935496	T	C	18	36355533	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0122334754189554	0.178
18	33935496	T	G	18	36355533	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.34475354077465	0.448
18	33935497	T	A	18	36355534	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999718230270215	0.962
18	33935497	T	C	18	36355534	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00173782846012726	0.026
18	33935497	T	G	18	36355534	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0356924888951243	0.242
18	33935498	G	A	18	36355535	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00301885407956978	0.006
18	33935498	G	C	18	36355535	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.22444796867323E-4	0.024
18	33935498	G	T	18	36355535	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00277239755661306	0.032
18	33935499	C	A	18	36355536	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.995609426878091	0.908
18	33935499	C	G	18	36355536	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999894000807705	0.962
18	33935499	C	T	18	36355536	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.420003505667072	0.296
18	33935500	A	C	18	36355537	y	y	splicing	FHOD3(NM_025135:exon2:c.166-2A>C;NM_001281740:exon2:c.166-2A>C;NM_001281739:exon2:c.166-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.166-2A>C;ENST00000445677:exon2:c.166-2A>C;ENST00000359247:exon2:c.166-2A>C;ENST00000590592:exon2:c.166-2A>C)	.	.	0.999988247793601	0.93
18	33935500	A	G	18	36355537	y	y	splicing	FHOD3(NM_025135:exon2:c.166-2A>G;NM_001281740:exon2:c.166-2A>G;NM_001281739:exon2:c.166-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.166-2A>G;ENST00000445677:exon2:c.166-2A>G;ENST00000359247:exon2:c.166-2A>G;ENST00000590592:exon2:c.166-2A>G)	.	.	0.999988247793601	0.93
18	33935500	A	T	18	36355537	y	y	splicing	FHOD3(NM_025135:exon2:c.166-2A>T;NM_001281740:exon2:c.166-2A>T;NM_001281739:exon2:c.166-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.166-2A>T;ENST00000445677:exon2:c.166-2A>T;ENST00000359247:exon2:c.166-2A>T;ENST00000590592:exon2:c.166-2A>T)	.	.	0.999988247793601	0.93
18	33935501	G	A	18	36355538	y	y	splicing	FHOD3(NM_025135:exon2:c.166-1G>A;NM_001281740:exon2:c.166-1G>A;NM_001281739:exon2:c.166-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.166-1G>A;ENST00000445677:exon2:c.166-1G>A;ENST00000359247:exon2:c.166-1G>A;ENST00000590592:exon2:c.166-1G>A)	.	.	0.999990361384395	0.938
18	33935501	G	C	18	36355538	y	y	splicing	FHOD3(NM_025135:exon2:c.166-1G>C;NM_001281740:exon2:c.166-1G>C;NM_001281739:exon2:c.166-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.166-1G>C;ENST00000445677:exon2:c.166-1G>C;ENST00000359247:exon2:c.166-1G>C;ENST00000590592:exon2:c.166-1G>C)	.	.	0.999990361384395	0.938
18	33935501	G	T	18	36355538	y	y	splicing	FHOD3(NM_025135:exon2:c.166-1G>T;NM_001281740:exon2:c.166-1G>T;NM_001281739:exon2:c.166-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.166-1G>T;ENST00000445677:exon2:c.166-1G>T;ENST00000359247:exon2:c.166-1G>T;ENST00000590592:exon2:c.166-1G>T)	.	.	0.999990361384395	0.938
18	33935502	C	A	18	36355539	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.C166A:p.L56M;FHOD3:NM_001281740:exon2:c.C166A:p.L56M;FHOD3:NM_001281739:exon2:c.C166A:p.L56M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.C166A:p.L56M;ENSG00000134775:ENST00000257209:exon2:c.C166A:p.L56M;ENSG00000134775:ENST00000590592:exon2:c.C166A:p.L56M;ENSG00000134775:ENST00000445677:exon2:c.C166A:p.L56M;	0.975801838366084	0.816
18	33935502	C	G	18	36355539	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.C166G:p.L56V;FHOD3:NM_001281740:exon2:c.C166G:p.L56V;FHOD3:NM_001281739:exon2:c.C166G:p.L56V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.C166G:p.L56V;ENSG00000134775:ENST00000257209:exon2:c.C166G:p.L56V;ENSG00000134775:ENST00000590592:exon2:c.C166G:p.L56V;ENSG00000134775:ENST00000445677:exon2:c.C166G:p.L56V;	0.970951733376464	0.63
18	33935502	C	T	18	36355539	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon2:c.C166T:p.L56L;FHOD3:NM_001281740:exon2:c.C166T:p.L56L;FHOD3:NM_001281739:exon2:c.C166T:p.L56L;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.C166T:p.L56L;ENSG00000134775:ENST00000257209:exon2:c.C166T:p.L56L;ENSG00000134775:ENST00000590592:exon2:c.C166T:p.L56L;ENSG00000134775:ENST00000445677:exon2:c.C166T:p.L56L;	0.988445416707404	0.77
18	33935503	T	A	18	36355540	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.T167A:p.L56Q;FHOD3:NM_001281740:exon2:c.T167A:p.L56Q;FHOD3:NM_001281739:exon2:c.T167A:p.L56Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.T167A:p.L56Q;ENSG00000134775:ENST00000257209:exon2:c.T167A:p.L56Q;ENSG00000134775:ENST00000590592:exon2:c.T167A:p.L56Q;ENSG00000134775:ENST00000445677:exon2:c.T167A:p.L56Q;	0.866916270616788	0.534
18	33935503	T	C	18	36355540	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.T167C:p.L56P;FHOD3:NM_001281740:exon2:c.T167C:p.L56P;FHOD3:NM_001281739:exon2:c.T167C:p.L56P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.T167C:p.L56P;ENSG00000134775:ENST00000257209:exon2:c.T167C:p.L56P;ENSG00000134775:ENST00000590592:exon2:c.T167C:p.L56P;ENSG00000134775:ENST00000445677:exon2:c.T167C:p.L56P;	0.80999912634933	0.498
18	33935503	T	G	18	36355540	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.T167G:p.L56R;FHOD3:NM_001281740:exon2:c.T167G:p.L56R;FHOD3:NM_001281739:exon2:c.T167G:p.L56R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.T167G:p.L56R;ENSG00000134775:ENST00000257209:exon2:c.T167G:p.L56R;ENSG00000134775:ENST00000590592:exon2:c.T167G:p.L56R;ENSG00000134775:ENST00000445677:exon2:c.T167G:p.L56R;	0.853397434631959	0.57
18	33935606	C	A	18	36355643	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon2:c.C270A:p.A90A;FHOD3:NM_001281740:exon2:c.C270A:p.A90A;FHOD3:NM_001281739:exon2:c.C270A:p.A90A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.C270A:p.A90A;ENSG00000134775:ENST00000257209:exon2:c.C270A:p.A90A;ENSG00000134775:ENST00000590592:exon2:c.C270A:p.A90A;ENSG00000134775:ENST00000445677:exon2:c.C270A:p.A90A;	4.64097734253286E-5	0.014
18	33935606	C	G	18	36355643	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon2:c.C270G:p.A90A;FHOD3:NM_001281740:exon2:c.C270G:p.A90A;FHOD3:NM_001281739:exon2:c.C270G:p.A90A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.C270G:p.A90A;ENSG00000134775:ENST00000257209:exon2:c.C270G:p.A90A;ENSG00000134775:ENST00000590592:exon2:c.C270G:p.A90A;ENSG00000134775:ENST00000445677:exon2:c.C270G:p.A90A;	3.14391080612624E-4	0.034
18	33935606	C	T	18	36355643	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon2:c.C270T:p.A90A;FHOD3:NM_001281740:exon2:c.C270T:p.A90A;FHOD3:NM_001281739:exon2:c.C270T:p.A90A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.C270T:p.A90A;ENSG00000134775:ENST00000257209:exon2:c.C270T:p.A90A;ENSG00000134775:ENST00000590592:exon2:c.C270T:p.A90A;ENSG00000134775:ENST00000445677:exon2:c.C270T:p.A90A;	5.22305336471293E-4	0.014
18	33935607	G	A	18	36355644	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.G271A:p.G91R;FHOD3:NM_001281740:exon2:c.G271A:p.G91R;FHOD3:NM_001281739:exon2:c.G271A:p.G91R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.G271A:p.G91R;ENSG00000134775:ENST00000257209:exon2:c.G271A:p.G91R;ENSG00000134775:ENST00000590592:exon2:c.G271A:p.G91R;ENSG00000134775:ENST00000445677:exon2:c.G271A:p.G91R;	0.969307402085628	0.626
18	33935607	G	C	18	36355644	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.G271C:p.G91R;FHOD3:NM_001281740:exon2:c.G271C:p.G91R;FHOD3:NM_001281739:exon2:c.G271C:p.G91R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.G271C:p.G91R;ENSG00000134775:ENST00000257209:exon2:c.G271C:p.G91R;ENSG00000134775:ENST00000590592:exon2:c.G271C:p.G91R;ENSG00000134775:ENST00000445677:exon2:c.G271C:p.G91R;	0.988775729263383	0.858
18	33935607	G	T	18	36355644	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.G271T:p.G91W;FHOD3:NM_001281740:exon2:c.G271T:p.G91W;FHOD3:NM_001281739:exon2:c.G271T:p.G91W;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.G271T:p.G91W;ENSG00000134775:ENST00000257209:exon2:c.G271T:p.G91W;ENSG00000134775:ENST00000590592:exon2:c.G271T:p.G91W;ENSG00000134775:ENST00000445677:exon2:c.G271T:p.G91W;	0.993880324945703	0.854
18	33935608	G	A	18	36355645	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.G272A:p.G91E;FHOD3:NM_001281740:exon2:c.G272A:p.G91E;FHOD3:NM_001281739:exon2:c.G272A:p.G91E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.G272A:p.G91E;ENSG00000134775:ENST00000257209:exon2:c.G272A:p.G91E;ENSG00000134775:ENST00000590592:exon2:c.G272A:p.G91E;ENSG00000134775:ENST00000445677:exon2:c.G272A:p.G91E;	0.999405687271091	0.902
18	33935608	G	C	18	36355645	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.G272C:p.G91A;FHOD3:NM_001281740:exon2:c.G272C:p.G91A;FHOD3:NM_001281739:exon2:c.G272C:p.G91A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.G272C:p.G91A;ENSG00000134775:ENST00000257209:exon2:c.G272C:p.G91A;ENSG00000134775:ENST00000590592:exon2:c.G272C:p.G91A;ENSG00000134775:ENST00000445677:exon2:c.G272C:p.G91A;	0.99992466670575	0.902
18	33935608	G	T	18	36355645	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon2:c.G272T:p.G91V;FHOD3:NM_001281740:exon2:c.G272T:p.G91V;FHOD3:NM_001281739:exon2:c.G272T:p.G91V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon2:c.G272T:p.G91V;ENSG00000134775:ENST00000257209:exon2:c.G272T:p.G91V;ENSG00000134775:ENST00000590592:exon2:c.G272T:p.G91V;ENSG00000134775:ENST00000445677:exon2:c.G272T:p.G91V;	0.999958125667013	0.958
18	33935609	G	A	18	36355646	y	y	splicing	FHOD3(NM_025135:exon2:c.272+1G>A;NM_001281740:exon2:c.272+1G>A;NM_001281739:exon2:c.272+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.272+1G>A;ENST00000445677:exon2:c.272+1G>A;ENST00000359247:exon2:c.272+1G>A;ENST00000590592:exon2:c.272+1G>A)	.	.	0.999990361384395	0.938
18	33935609	G	C	18	36355646	y	y	splicing	FHOD3(NM_025135:exon2:c.272+1G>C;NM_001281740:exon2:c.272+1G>C;NM_001281739:exon2:c.272+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.272+1G>C;ENST00000445677:exon2:c.272+1G>C;ENST00000359247:exon2:c.272+1G>C;ENST00000590592:exon2:c.272+1G>C)	.	.	0.999990361384395	0.936
18	33935609	G	T	18	36355646	y	y	splicing	FHOD3(NM_025135:exon2:c.272+1G>T;NM_001281740:exon2:c.272+1G>T;NM_001281739:exon2:c.272+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.272+1G>T;ENST00000445677:exon2:c.272+1G>T;ENST00000359247:exon2:c.272+1G>T;ENST00000590592:exon2:c.272+1G>T)	.	.	0.999990361384395	0.936
18	33935610	T	A	18	36355647	y	y	splicing	FHOD3(NM_025135:exon2:c.272+2T>A;NM_001281740:exon2:c.272+2T>A;NM_001281739:exon2:c.272+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.272+2T>A;ENST00000445677:exon2:c.272+2T>A;ENST00000359247:exon2:c.272+2T>A;ENST00000590592:exon2:c.272+2T>A)	.	.	0.999988247793601	0.928
18	33935610	T	C	18	36355647	y	y	splicing	FHOD3(NM_025135:exon2:c.272+2T>C;NM_001281740:exon2:c.272+2T>C;NM_001281739:exon2:c.272+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.272+2T>C;ENST00000445677:exon2:c.272+2T>C;ENST00000359247:exon2:c.272+2T>C;ENST00000590592:exon2:c.272+2T>C)	.	.	0.999934643991786	0.894
18	33935610	T	G	18	36355647	y	y	splicing	FHOD3(NM_025135:exon2:c.272+2T>G;NM_001281740:exon2:c.272+2T>G;NM_001281739:exon2:c.272+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon2:c.272+2T>G;ENST00000445677:exon2:c.272+2T>G;ENST00000359247:exon2:c.272+2T>G;ENST00000590592:exon2:c.272+2T>G)	.	.	0.999988247793601	0.928
18	33935611	A	C	18	36355648	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996264396531522	0.74
18	33935611	A	G	18	36355648	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.579492450881713	0.5
18	33935611	A	T	18	36355648	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99968940540632	0.836
18	33935612	A	C	18	36355649	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.962859063668111	0.75
18	33935612	A	G	18	36355649	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.964493827840384	0.788
18	33935612	A	T	18	36355649	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.912622370681305	0.812
18	33935613	G	A	18	36355650	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999968913928619	0.97
18	33935613	G	C	18	36355650	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999950689297145	0.954
18	33935613	G	T	18	36355650	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999696313578669	0.838
18	33935614	A	C	18	36355651	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.34800941927428E-5	0.006
18	33935614	A	G	18	36355651	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.71010889922263E-5	0.0
18	33935614	A	T	18	36355651	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.44670295625986E-5	0.006
18	33935615	G	A	18	36355652	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.76926247400981E-5	0.0
18	33935615	G	C	18	36355652	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.43042139815059E-5	0.0
18	33935615	G	T	18	36355652	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.15335508978106E-5	0.002
18	33935616	C	A	18	36355653	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.62664281804568E-4	0.0
18	33935616	C	G	18	36355653	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.25704308595726E-4	0.0
18	33935616	C	T	18	36355653	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.62664281804568E-4	0.0
18	33952631	C	A	18	36372668	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.74020531875782E-5	0.0
18	33952631	C	G	18	36372668	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.83187529254254E-5	0.028
18	33952631	C	T	18	36372668	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.59299244381415E-5	0.008
18	33952632	T	A	18	36372669	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999904859709648	0.934
18	33952632	T	C	18	36372669	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00123950493302401	0.234
18	33952632	T	G	18	36372669	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.341357406357506	0.546
18	33952633	G	A	18	36372670	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.10203167016184E-4	0.002
18	33952633	G	C	18	36372670	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.6033258920625E-5	0.0
18	33952633	G	T	18	36372670	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.73387256312691E-5	0.0
18	33952634	T	A	18	36372671	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.941844445543395	0.624
18	33952634	T	C	18	36372671	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00346390082755732	0.114
18	33952634	T	G	18	36372671	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.795021628556112	0.486
18	33952635	C	A	18	36372672	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00336437736684478	0.158
18	33952635	C	G	18	36372672	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00205771607019112	0.18
18	33952635	C	T	18	36372672	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.90847786831153E-5	0.058
18	33952636	T	A	18	36372673	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.360284320772179	0.496
18	33952636	T	C	18	36372673	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.27314885514228E-4	0.006
18	33952636	T	G	18	36372673	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.146875080001996	0.29
18	33952637	C	A	18	36372674	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.985538782437558	0.936
18	33952637	C	G	18	36372674	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.91062925291046E-4	0.082
18	33952637	C	T	18	36372674	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.88255577410765E-5	0.0
18	33952638	G	A	18	36372675	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.61752559043233E-5	0.002
18	33952638	G	C	18	36372675	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.85432167568299E-6	0.0
18	33952638	G	T	18	36372675	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.69597282619581E-5	0.002
18	33952639	T	A	18	36372676	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.72615468880564E-4	0.01
18	33952639	T	C	18	36372676	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.48927686961647E-4	0.004
18	33952639	T	G	18	36372676	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00110632249424255	0.024
18	33952640	T	A	18	36372677	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0218485619523752	0.338
18	33952640	T	C	18	36372677	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.0949237252079E-5	0.002
18	33952640	T	G	18	36372677	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.952587072716004	0.664
18	33952641	A	C	18	36372678	y	y	splicing	FHOD3(NM_025135:exon3:c.273-2A>C;NM_001281740:exon3:c.273-2A>C;NM_001281739:exon3:c.273-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.273-2A>C;ENST00000445677:exon3:c.273-2A>C;ENST00000359247:exon3:c.273-2A>C;ENST00000590592:exon3:c.273-2A>C)	.	.	0.999978952611685	0.928
18	33952641	A	G	18	36372678	y	y	splicing	FHOD3(NM_025135:exon3:c.273-2A>G;NM_001281740:exon3:c.273-2A>G;NM_001281739:exon3:c.273-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.273-2A>G;ENST00000445677:exon3:c.273-2A>G;ENST00000359247:exon3:c.273-2A>G;ENST00000590592:exon3:c.273-2A>G)	.	.	0.999978952611685	0.928
18	33952641	A	T	18	36372678	y	y	splicing	FHOD3(NM_025135:exon3:c.273-2A>T;NM_001281740:exon3:c.273-2A>T;NM_001281739:exon3:c.273-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.273-2A>T;ENST00000445677:exon3:c.273-2A>T;ENST00000359247:exon3:c.273-2A>T;ENST00000590592:exon3:c.273-2A>T)	.	.	0.999988247793601	0.926
18	33952642	G	A	18	36372679	y	y	splicing	FHOD3(NM_025135:exon3:c.273-1G>A;NM_001281740:exon3:c.273-1G>A;NM_001281739:exon3:c.273-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.273-1G>A;ENST00000445677:exon3:c.273-1G>A;ENST00000359247:exon3:c.273-1G>A;ENST00000590592:exon3:c.273-1G>A)	.	.	0.999985532734767	0.936
18	33952642	G	C	18	36372679	y	y	splicing	FHOD3(NM_025135:exon3:c.273-1G>C;NM_001281740:exon3:c.273-1G>C;NM_001281739:exon3:c.273-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.273-1G>C;ENST00000445677:exon3:c.273-1G>C;ENST00000359247:exon3:c.273-1G>C;ENST00000590592:exon3:c.273-1G>C)	.	.	0.999985532734767	0.936
18	33952642	G	T	18	36372679	y	y	splicing	FHOD3(NM_025135:exon3:c.273-1G>T;NM_001281740:exon3:c.273-1G>T;NM_001281739:exon3:c.273-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.273-1G>T;ENST00000445677:exon3:c.273-1G>T;ENST00000359247:exon3:c.273-1G>T;ENST00000590592:exon3:c.273-1G>T)	.	.	0.999985532734767	0.936
18	33952643	G	A	18	36372680	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon3:c.G273A:p.G91G;FHOD3:NM_001281740:exon3:c.G273A:p.G91G;FHOD3:NM_001281739:exon3:c.G273A:p.G91G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.G273A:p.G91G;ENSG00000134775:ENST00000257209:exon3:c.G273A:p.G91G;ENSG00000134775:ENST00000590592:exon3:c.G273A:p.G91G;ENSG00000134775:ENST00000445677:exon3:c.G273A:p.G91G;	0.336920133690602	0.416
18	33952643	G	C	18	36372680	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon3:c.G273C:p.G91G;FHOD3:NM_001281740:exon3:c.G273C:p.G91G;FHOD3:NM_001281739:exon3:c.G273C:p.G91G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.G273C:p.G91G;ENSG00000134775:ENST00000257209:exon3:c.G273C:p.G91G;ENSG00000134775:ENST00000590592:exon3:c.G273C:p.G91G;ENSG00000134775:ENST00000445677:exon3:c.G273C:p.G91G;	0.941328844138851	0.734
18	33952643	G	T	18	36372680	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon3:c.G273T:p.G91G;FHOD3:NM_001281740:exon3:c.G273T:p.G91G;FHOD3:NM_001281739:exon3:c.G273T:p.G91G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.G273T:p.G91G;ENSG00000134775:ENST00000257209:exon3:c.G273T:p.G91G;ENSG00000134775:ENST00000590592:exon3:c.G273T:p.G91G;ENSG00000134775:ENST00000445677:exon3:c.G273T:p.G91G;	0.987277417910508	0.898
18	33952644	C	A	18	36372681	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon3:c.C274A:p.R92R;FHOD3:NM_001281740:exon3:c.C274A:p.R92R;FHOD3:NM_001281739:exon3:c.C274A:p.R92R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.C274A:p.R92R;ENSG00000134775:ENST00000257209:exon3:c.C274A:p.R92R;ENSG00000134775:ENST00000590592:exon3:c.C274A:p.R92R;ENSG00000134775:ENST00000445677:exon3:c.C274A:p.R92R;	6.18759656483428E-5	0.002
18	33952644	C	G	18	36372681	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon3:c.C274G:p.R92G;FHOD3:NM_001281740:exon3:c.C274G:p.R92G;FHOD3:NM_001281739:exon3:c.C274G:p.R92G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.C274G:p.R92G;ENSG00000134775:ENST00000257209:exon3:c.C274G:p.R92G;ENSG00000134775:ENST00000590592:exon3:c.C274G:p.R92G;ENSG00000134775:ENST00000445677:exon3:c.C274G:p.R92G;	4.01664181333477E-5	0.058
18	33952644	C	T	18	36372681	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon3:c.C274T:p.R92W;FHOD3:NM_001281740:exon3:c.C274T:p.R92W;FHOD3:NM_001281739:exon3:c.C274T:p.R92W;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.C274T:p.R92W;ENSG00000134775:ENST00000257209:exon3:c.C274T:p.R92W;ENSG00000134775:ENST00000590592:exon3:c.C274T:p.R92W;ENSG00000134775:ENST00000445677:exon3:c.C274T:p.R92W;	6.13351474730872E-4	0.236
18	33952705	T	A	18	36372742	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon3:c.T335A:p.I112N;FHOD3:NM_001281740:exon3:c.T335A:p.I112N;FHOD3:NM_001281739:exon3:c.T335A:p.I112N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.T335A:p.I112N;ENSG00000134775:ENST00000257209:exon3:c.T335A:p.I112N;ENSG00000134775:ENST00000590592:exon3:c.T335A:p.I112N;ENSG00000134775:ENST00000445677:exon3:c.T335A:p.I112N;	0.0757965089751788	0.398
18	33952705	T	C	18	36372742	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon3:c.T335C:p.I112T;FHOD3:NM_001281740:exon3:c.T335C:p.I112T;FHOD3:NM_001281739:exon3:c.T335C:p.I112T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.T335C:p.I112T;ENSG00000134775:ENST00000257209:exon3:c.T335C:p.I112T;ENSG00000134775:ENST00000590592:exon3:c.T335C:p.I112T;ENSG00000134775:ENST00000445677:exon3:c.T335C:p.I112T;	0.510686541785004	0.6
18	33952705	T	G	18	36372742	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon3:c.T335G:p.I112S;FHOD3:NM_001281740:exon3:c.T335G:p.I112S;FHOD3:NM_001281739:exon3:c.T335G:p.I112S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.T335G:p.I112S;ENSG00000134775:ENST00000257209:exon3:c.T335G:p.I112S;ENSG00000134775:ENST00000590592:exon3:c.T335G:p.I112S;ENSG00000134775:ENST00000445677:exon3:c.T335G:p.I112S;	0.587306027117308	0.552
18	33952706	C	A	18	36372743	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon3:c.C336A:p.I112I;FHOD3:NM_001281740:exon3:c.C336A:p.I112I;FHOD3:NM_001281739:exon3:c.C336A:p.I112I;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.C336A:p.I112I;ENSG00000134775:ENST00000257209:exon3:c.C336A:p.I112I;ENSG00000134775:ENST00000590592:exon3:c.C336A:p.I112I;ENSG00000134775:ENST00000445677:exon3:c.C336A:p.I112I;	2.20185024685485E-4	0.182
18	33952706	C	G	18	36372743	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon3:c.C336G:p.I112M;FHOD3:NM_001281740:exon3:c.C336G:p.I112M;FHOD3:NM_001281739:exon3:c.C336G:p.I112M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.C336G:p.I112M;ENSG00000134775:ENST00000257209:exon3:c.C336G:p.I112M;ENSG00000134775:ENST00000590592:exon3:c.C336G:p.I112M;ENSG00000134775:ENST00000445677:exon3:c.C336G:p.I112M;	2.00443086748237E-4	0.148
18	33952706	C	T	18	36372743	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon3:c.C336T:p.I112I;FHOD3:NM_001281740:exon3:c.C336T:p.I112I;FHOD3:NM_001281739:exon3:c.C336T:p.I112I;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.C336T:p.I112I;ENSG00000134775:ENST00000257209:exon3:c.C336T:p.I112I;ENSG00000134775:ENST00000590592:exon3:c.C336T:p.I112I;ENSG00000134775:ENST00000445677:exon3:c.C336T:p.I112I;	9.2486322876699E-4	0.33
18	33952707	G	A	18	36372744	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon3:c.G337A:p.E113K;FHOD3:NM_001281740:exon3:c.G337A:p.E113K;FHOD3:NM_001281739:exon3:c.G337A:p.E113K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.G337A:p.E113K;ENSG00000134775:ENST00000257209:exon3:c.G337A:p.E113K;ENSG00000134775:ENST00000590592:exon3:c.G337A:p.E113K;ENSG00000134775:ENST00000445677:exon3:c.G337A:p.E113K;	0.999983623321901	0.982
18	33952707	G	C	18	36372744	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon3:c.G337C:p.E113Q;FHOD3:NM_001281740:exon3:c.G337C:p.E113Q;FHOD3:NM_001281739:exon3:c.G337C:p.E113Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon3:c.G337C:p.E113Q;ENSG00000134775:ENST00000257209:exon3:c.G337C:p.E113Q;ENSG00000134775:ENST00000590592:exon3:c.G337C:p.E113Q;ENSG00000134775:ENST00000445677:exon3:c.G337C:p.E113Q;	0.999966822182104	0.996
18	33952707	G	T	18	36372744	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon3:c.G337T:p.E113X;FHOD3:NM_001281740:exon3:c.G337T:p.E113X;FHOD3:NM_001281739:exon3:c.G337T:p.E113X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon3:c.G337T:p.E113X;ENSG00000134775:ENST00000257209:exon3:c.G337T:p.E113X;ENSG00000134775:ENST00000590592:exon3:c.G337T:p.E113X;ENSG00000134775:ENST00000445677:exon3:c.G337T:p.E113X;	0.999989996763008	0.97
18	33952708	G	A	18	36372745	y	y	splicing	FHOD3(NM_025135:exon3:c.337+1G>A;NM_001281740:exon3:c.337+1G>A;NM_001281739:exon3:c.337+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.337+1G>A;ENST00000445677:exon3:c.337+1G>A;ENST00000359247:exon3:c.337+1G>A;ENST00000590592:exon3:c.337+1G>A)	.	.	0.999985532734767	0.936
18	33952708	G	C	18	36372745	y	y	splicing	FHOD3(NM_025135:exon3:c.337+1G>C;NM_001281740:exon3:c.337+1G>C;NM_001281739:exon3:c.337+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.337+1G>C;ENST00000445677:exon3:c.337+1G>C;ENST00000359247:exon3:c.337+1G>C;ENST00000590592:exon3:c.337+1G>C)	.	.	0.999985532734767	0.936
18	33952708	G	T	18	36372745	y	y	splicing	FHOD3(NM_025135:exon3:c.337+1G>T;NM_001281740:exon3:c.337+1G>T;NM_001281739:exon3:c.337+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.337+1G>T;ENST00000445677:exon3:c.337+1G>T;ENST00000359247:exon3:c.337+1G>T;ENST00000590592:exon3:c.337+1G>T)	.	.	0.999985532734767	0.936
18	33952709	T	A	18	36372746	y	y	splicing	FHOD3(NM_025135:exon3:c.337+2T>A;NM_001281740:exon3:c.337+2T>A;NM_001281739:exon3:c.337+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.337+2T>A;ENST00000445677:exon3:c.337+2T>A;ENST00000359247:exon3:c.337+2T>A;ENST00000590592:exon3:c.337+2T>A)	.	.	0.999988247793601	0.928
18	33952709	T	C	18	36372746	y	y	splicing	FHOD3(NM_025135:exon3:c.337+2T>C;NM_001281740:exon3:c.337+2T>C;NM_001281739:exon3:c.337+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.337+2T>C;ENST00000445677:exon3:c.337+2T>C;ENST00000359247:exon3:c.337+2T>C;ENST00000590592:exon3:c.337+2T>C)	.	.	0.999929727175276	0.856
18	33952709	T	G	18	36372746	y	y	splicing	FHOD3(NM_025135:exon3:c.337+2T>G;NM_001281740:exon3:c.337+2T>G;NM_001281739:exon3:c.337+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon3:c.337+2T>G;ENST00000445677:exon3:c.337+2T>G;ENST00000359247:exon3:c.337+2T>G;ENST00000590592:exon3:c.337+2T>G)	.	.	0.999988247793601	0.928
18	33952710	G	A	18	36372747	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0052745540332282	0.03
18	33952710	G	C	18	36372747	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999382057366677	0.816
18	33952710	G	T	18	36372747	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.989563553675504	0.642
18	33952711	A	C	18	36372748	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998451874099133	0.922
18	33952711	A	G	18	36372748	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998101086081303	0.938
18	33952711	A	T	18	36372748	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998335441102703	0.926
18	33952712	G	A	18	36372749	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999684989975184	0.978
18	33952712	G	C	18	36372749	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999956833078794	0.962
18	33952712	G	T	18	36372749	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999900066406265	0.962
18	33952713	T	A	18	36372750	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.995558219749023	0.836
18	33952713	T	C	18	36372750	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.975415865564537	0.69
18	33952713	T	G	18	36372750	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.993055763812805	0.726
18	33952714	G	A	18	36372751	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0199079977144839	0.06
18	33952714	G	C	18	36372751	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0191167246856805	0.058
18	33952714	G	T	18	36372751	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0168589276994686	0.072
18	33952715	A	C	18	36372752	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.80257671126134E-4	0.006
18	33952715	A	G	18	36372752	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.78380969718112E-4	0.008
18	33952715	A	T	18	36372752	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.89371736124219E-4	0.002
18	34081883	T	A	18	36501920	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.324427435058736	0.622
18	34081883	T	C	18	36501920	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00149924971363882	0.034
18	34081883	T	G	18	36501920	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.238195327097798	0.612
18	34081884	C	A	18	36501921	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.15469701207201E-4	0.006
18	34081884	C	G	18	36501921	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.06347675483882E-5	0.03
18	34081884	C	T	18	36501921	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.96718281934743E-5	0.0
18	34081885	T	A	18	36501922	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.357480112225116	0.596
18	34081885	T	C	18	36501922	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00111979827938394	0.054
18	34081885	T	G	18	36501922	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.546899058364962	0.584
18	34081886	T	A	18	36501923	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0110722578799191	0.14
18	34081886	T	C	18	36501923	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.04168891878845E-5	0.0
18	34081886	T	G	18	36501923	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00133492136329806	0.144
18	34081887	T	A	18	36501924	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0323764682643124	0.136
18	34081887	T	C	18	36501924	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.12394532289455E-5	0.014
18	34081887	T	G	18	36501924	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00305500254318507	0.146
18	34081888	A	C	18	36501925	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.63808077088268E-5	0.004
18	34081888	A	G	18	36501925	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.63864123619929E-5	0.0
18	34081888	A	T	18	36501925	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.59218903055333E-4	0.002
18	34081889	T	A	18	36501926	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.195536214601366	0.306
18	34081889	T	C	18	36501926	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.40967863507351E-5	0.012
18	34081889	T	G	18	36501926	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998652315006834	0.956
18	34081890	T	A	18	36501927	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.470258059342445	0.472
18	34081890	T	C	18	36501927	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0201283728073813	0.128
18	34081890	T	G	18	36501927	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.966196725032338	0.538
18	34081891	T	A	18	36501928	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.43523841270588E-4	0.004
18	34081891	T	C	18	36501928	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.09757625285857E-5	0.004
18	34081891	T	G	18	36501928	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.7522789168401E-4	0.0
18	34081892	C	A	18	36501929	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998894601143195	0.698
18	34081892	C	G	18	36501929	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999682296524888	0.9
18	34081892	C	T	18	36501929	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0140855588183539	0.18
18	34081893	A	C	18	36501930	y	y	splicing	FHOD3(NM_025135:exon4:c.338-2A>C;NM_001281740:exon4:c.338-2A>C;NM_001281739:exon4:c.338-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.338-2A>C;ENST00000445677:exon4:c.338-2A>C;ENST00000359247:exon4:c.338-2A>C;ENST00000590592:exon4:c.338-2A>C)	.	.	0.999971317418422	0.884
18	34081893	A	G	18	36501930	y	y	splicing	FHOD3(NM_025135:exon4:c.338-2A>G;NM_001281740:exon4:c.338-2A>G;NM_001281739:exon4:c.338-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.338-2A>G;ENST00000445677:exon4:c.338-2A>G;ENST00000359247:exon4:c.338-2A>G;ENST00000590592:exon4:c.338-2A>G)	.	.	0.999972871252391	0.878
18	34081893	A	T	18	36501930	y	y	splicing	FHOD3(NM_025135:exon4:c.338-2A>T;NM_001281740:exon4:c.338-2A>T;NM_001281739:exon4:c.338-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.338-2A>T;ENST00000445677:exon4:c.338-2A>T;ENST00000359247:exon4:c.338-2A>T;ENST00000590592:exon4:c.338-2A>T)	.	.	0.999971317418422	0.892
18	34081894	G	A	18	36501931	y	y	splicing	FHOD3(NM_025135:exon4:c.338-1G>A;NM_001281740:exon4:c.338-1G>A;NM_001281739:exon4:c.338-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.338-1G>A;ENST00000445677:exon4:c.338-1G>A;ENST00000359247:exon4:c.338-1G>A;ENST00000590592:exon4:c.338-1G>A)	.	.	0.999976475802857	0.91
18	34081894	G	C	18	36501931	y	y	splicing	FHOD3(NM_025135:exon4:c.338-1G>C;NM_001281740:exon4:c.338-1G>C;NM_001281739:exon4:c.338-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.338-1G>C;ENST00000445677:exon4:c.338-1G>C;ENST00000359247:exon4:c.338-1G>C;ENST00000590592:exon4:c.338-1G>C)	.	.	0.999976475802857	0.904
18	34081894	G	T	18	36501931	y	y	splicing	FHOD3(NM_025135:exon4:c.338-1G>T;NM_001281740:exon4:c.338-1G>T;NM_001281739:exon4:c.338-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.338-1G>T;ENST00000445677:exon4:c.338-1G>T;ENST00000359247:exon4:c.338-1G>T;ENST00000590592:exon4:c.338-1G>T)	.	.	0.999976475802857	0.908
18	34081895	A	C	18	36501932	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.A338C:p.E113A;FHOD3:NM_001281740:exon4:c.A338C:p.E113A;FHOD3:NM_001281739:exon4:c.A338C:p.E113A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A338C:p.E113A;ENSG00000134775:ENST00000257209:exon4:c.A338C:p.E113A;ENSG00000134775:ENST00000590592:exon4:c.A338C:p.E113A;ENSG00000134775:ENST00000445677:exon4:c.A338C:p.E113A;	0.0638278366528407	0.192
18	34081895	A	G	18	36501932	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.A338G:p.E113G;FHOD3:NM_001281740:exon4:c.A338G:p.E113G;FHOD3:NM_001281739:exon4:c.A338G:p.E113G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A338G:p.E113G;ENSG00000134775:ENST00000257209:exon4:c.A338G:p.E113G;ENSG00000134775:ENST00000590592:exon4:c.A338G:p.E113G;ENSG00000134775:ENST00000445677:exon4:c.A338G:p.E113G;	0.0480696698018976	0.384
18	34081895	A	T	18	36501932	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.A338T:p.E113V;FHOD3:NM_001281740:exon4:c.A338T:p.E113V;FHOD3:NM_001281739:exon4:c.A338T:p.E113V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A338T:p.E113V;ENSG00000134775:ENST00000257209:exon4:c.A338T:p.E113V;ENSG00000134775:ENST00000590592:exon4:c.A338T:p.E113V;ENSG00000134775:ENST00000445677:exon4:c.A338T:p.E113V;	0.65106989710082	0.474
18	34081896	A	C	18	36501933	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.A339C:p.E113D;FHOD3:NM_001281740:exon4:c.A339C:p.E113D;FHOD3:NM_001281739:exon4:c.A339C:p.E113D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A339C:p.E113D;ENSG00000134775:ENST00000257209:exon4:c.A339C:p.E113D;ENSG00000134775:ENST00000590592:exon4:c.A339C:p.E113D;ENSG00000134775:ENST00000445677:exon4:c.A339C:p.E113D;	1.64464523949364E-4	0.008
18	34081896	A	G	18	36501933	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon4:c.A339G:p.E113E;FHOD3:NM_001281740:exon4:c.A339G:p.E113E;FHOD3:NM_001281739:exon4:c.A339G:p.E113E;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A339G:p.E113E;ENSG00000134775:ENST00000257209:exon4:c.A339G:p.E113E;ENSG00000134775:ENST00000590592:exon4:c.A339G:p.E113E;ENSG00000134775:ENST00000445677:exon4:c.A339G:p.E113E;	3.28212963034225E-5	0.016
18	34081896	A	T	18	36501933	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.A339T:p.E113D;FHOD3:NM_001281740:exon4:c.A339T:p.E113D;FHOD3:NM_001281739:exon4:c.A339T:p.E113D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A339T:p.E113D;ENSG00000134775:ENST00000257209:exon4:c.A339T:p.E113D;ENSG00000134775:ENST00000590592:exon4:c.A339T:p.E113D;ENSG00000134775:ENST00000445677:exon4:c.A339T:p.E113D;	3.22805915355933E-5	0.004
18	34081960	C	A	18	36501997	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.C403A:p.Q135K;FHOD3:NM_001281740:exon4:c.C403A:p.Q135K;FHOD3:NM_001281739:exon4:c.C403A:p.Q135K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.C403A:p.Q135K;ENSG00000134775:ENST00000257209:exon4:c.C403A:p.Q135K;ENSG00000134775:ENST00000590592:exon4:c.C403A:p.Q135K;ENSG00000134775:ENST00000445677:exon4:c.C403A:p.Q135K;	0.947195940381539	0.748
18	34081960	C	G	18	36501997	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.C403G:p.Q135E;FHOD3:NM_001281740:exon4:c.C403G:p.Q135E;FHOD3:NM_001281739:exon4:c.C403G:p.Q135E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.C403G:p.Q135E;ENSG00000134775:ENST00000257209:exon4:c.C403G:p.Q135E;ENSG00000134775:ENST00000590592:exon4:c.C403G:p.Q135E;ENSG00000134775:ENST00000445677:exon4:c.C403G:p.Q135E;	0.916536199065717	0.616
18	34081960	C	T	18	36501997	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon4:c.C403T:p.Q135X;FHOD3:NM_001281740:exon4:c.C403T:p.Q135X;FHOD3:NM_001281739:exon4:c.C403T:p.Q135X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon4:c.C403T:p.Q135X;ENSG00000134775:ENST00000257209:exon4:c.C403T:p.Q135X;ENSG00000134775:ENST00000590592:exon4:c.C403T:p.Q135X;ENSG00000134775:ENST00000445677:exon4:c.C403T:p.Q135X;	0.99828975083829	0.902
18	34081961	A	C	18	36501998	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.A404C:p.Q135P;FHOD3:NM_001281740:exon4:c.A404C:p.Q135P;FHOD3:NM_001281739:exon4:c.A404C:p.Q135P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A404C:p.Q135P;ENSG00000134775:ENST00000257209:exon4:c.A404C:p.Q135P;ENSG00000134775:ENST00000590592:exon4:c.A404C:p.Q135P;ENSG00000134775:ENST00000445677:exon4:c.A404C:p.Q135P;	0.998566018906268	0.988
18	34081961	A	G	18	36501998	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.A404G:p.Q135R;FHOD3:NM_001281740:exon4:c.A404G:p.Q135R;FHOD3:NM_001281739:exon4:c.A404G:p.Q135R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A404G:p.Q135R;ENSG00000134775:ENST00000257209:exon4:c.A404G:p.Q135R;ENSG00000134775:ENST00000590592:exon4:c.A404G:p.Q135R;ENSG00000134775:ENST00000445677:exon4:c.A404G:p.Q135R;	0.999852243613825	0.988
18	34081961	A	T	18	36501998	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.A404T:p.Q135L;FHOD3:NM_001281740:exon4:c.A404T:p.Q135L;FHOD3:NM_001281739:exon4:c.A404T:p.Q135L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.A404T:p.Q135L;ENSG00000134775:ENST00000257209:exon4:c.A404T:p.Q135L;ENSG00000134775:ENST00000590592:exon4:c.A404T:p.Q135L;ENSG00000134775:ENST00000445677:exon4:c.A404T:p.Q135L;	0.999854699641792	0.984
18	34081962	G	A	18	36501999	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon4:c.G405A:p.Q135Q;FHOD3:NM_001281740:exon4:c.G405A:p.Q135Q;FHOD3:NM_001281739:exon4:c.G405A:p.Q135Q;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.G405A:p.Q135Q;ENSG00000134775:ENST00000257209:exon4:c.G405A:p.Q135Q;ENSG00000134775:ENST00000590592:exon4:c.G405A:p.Q135Q;ENSG00000134775:ENST00000445677:exon4:c.G405A:p.Q135Q;	0.999961054925819	0.996
18	34081962	G	C	18	36501999	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.G405C:p.Q135H;FHOD3:NM_001281740:exon4:c.G405C:p.Q135H;FHOD3:NM_001281739:exon4:c.G405C:p.Q135H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.G405C:p.Q135H;ENSG00000134775:ENST00000257209:exon4:c.G405C:p.Q135H;ENSG00000134775:ENST00000590592:exon4:c.G405C:p.Q135H;ENSG00000134775:ENST00000445677:exon4:c.G405C:p.Q135H;	0.999998122414291	0.986
18	34081962	G	T	18	36501999	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon4:c.G405T:p.Q135H;FHOD3:NM_001281740:exon4:c.G405T:p.Q135H;FHOD3:NM_001281739:exon4:c.G405T:p.Q135H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon4:c.G405T:p.Q135H;ENSG00000134775:ENST00000257209:exon4:c.G405T:p.Q135H;ENSG00000134775:ENST00000590592:exon4:c.G405T:p.Q135H;ENSG00000134775:ENST00000445677:exon4:c.G405T:p.Q135H;	0.999967712952207	0.986
18	34081963	G	A	18	36502000	y	y	splicing	FHOD3(NM_025135:exon4:c.405+1G>A;NM_001281740:exon4:c.405+1G>A;NM_001281739:exon4:c.405+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.405+1G>A;ENST00000445677:exon4:c.405+1G>A;ENST00000359247:exon4:c.405+1G>A;ENST00000590592:exon4:c.405+1G>A)	.	.	0.999990361384395	0.938
18	34081963	G	C	18	36502000	y	y	splicing	FHOD3(NM_025135:exon4:c.405+1G>C;NM_001281740:exon4:c.405+1G>C;NM_001281739:exon4:c.405+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.405+1G>C;ENST00000445677:exon4:c.405+1G>C;ENST00000359247:exon4:c.405+1G>C;ENST00000590592:exon4:c.405+1G>C)	.	.	0.999990361384395	0.936
18	34081963	G	T	18	36502000	y	y	splicing	FHOD3(NM_025135:exon4:c.405+1G>T;NM_001281740:exon4:c.405+1G>T;NM_001281739:exon4:c.405+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.405+1G>T;ENST00000445677:exon4:c.405+1G>T;ENST00000359247:exon4:c.405+1G>T;ENST00000590592:exon4:c.405+1G>T)	.	.	0.999990361384395	0.938
18	34081964	T	A	18	36502001	y	y	splicing	FHOD3(NM_025135:exon4:c.405+2T>A;NM_001281740:exon4:c.405+2T>A;NM_001281739:exon4:c.405+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.405+2T>A;ENST00000445677:exon4:c.405+2T>A;ENST00000359247:exon4:c.405+2T>A;ENST00000590592:exon4:c.405+2T>A)	.	.	0.999988247793601	0.928
18	34081964	T	C	18	36502001	y	y	splicing	FHOD3(NM_025135:exon4:c.405+2T>C;NM_001281740:exon4:c.405+2T>C;NM_001281739:exon4:c.405+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.405+2T>C;ENST00000445677:exon4:c.405+2T>C;ENST00000359247:exon4:c.405+2T>C;ENST00000590592:exon4:c.405+2T>C)	.	.	0.98918007292081	0.674
18	34081964	T	G	18	36502001	y	y	splicing	FHOD3(NM_025135:exon4:c.405+2T>G;NM_001281740:exon4:c.405+2T>G;NM_001281739:exon4:c.405+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon4:c.405+2T>G;ENST00000445677:exon4:c.405+2T>G;ENST00000359247:exon4:c.405+2T>G;ENST00000590592:exon4:c.405+2T>G)	.	.	0.999988247793601	0.928
18	34081965	A	C	18	36502002	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996341709451556	0.888
18	34081965	A	G	18	36502002	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.78744475650073	0.608
18	34081965	A	T	18	36502002	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999374842765606	0.886
18	34081966	A	C	18	36502003	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.440481365550307	0.494
18	34081966	A	G	18	36502003	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.201643153951296	0.472
18	34081966	A	T	18	36502003	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.534557453532818	0.484
18	34081967	A	C	18	36502004	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.0140464453258E-5	0.018
18	34081967	A	G	18	36502004	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.44966615935405E-5	0.006
18	34081967	A	T	18	36502004	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.82053867019692E-5	0.004
18	34081968	T	A	18	36502005	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.55779962379098E-4	0.056
18	34081968	T	C	18	36502005	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.60787711400218E-4	0.078
18	34081968	T	G	18	36502005	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.30112498995381E-4	0.078
18	34081969	A	C	18	36502006	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.57835743868844E-5	0.002
18	34081969	A	G	18	36502006	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.25859085301083E-4	0.002
18	34081969	A	T	18	36502006	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.97479714752878E-4	0.014
18	34081970	G	A	18	36502007	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.73386572137077E-5	0.006
18	34081970	G	C	18	36502007	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.73386572137077E-5	0.002
18	34081970	G	T	18	36502007	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.73386572137077E-5	0.002
18	34092389	C	A	18	36512426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.74777910589745E-4	0.028
18	34092389	C	G	18	36512426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.84324193325919E-4	0.012
18	34092389	C	T	18	36512426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.86884072062138E-5	0.0
18	34092390	T	A	18	36512427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.33617400003629E-5	0.162
18	34092390	T	C	18	36512427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.14926591432903E-4	0.08
18	34092390	T	G	18	36512427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.29170374760921E-4	0.144
18	34092391	T	A	18	36512428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0231689292096802	0.072
18	34092391	T	C	18	36512428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00126883867415537	0.028
18	34092391	T	G	18	36512428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0134468127600483	0.066
18	34092392	T	A	18	36512429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00666840292568092	0.166
18	34092392	T	C	18	36512429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.87951442059978E-4	0.01
18	34092392	T	G	18	36512429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00346411251184684	0.054
18	34092393	C	A	18	36512430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0236776538487884	0.164
18	34092393	C	G	18	36512430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0101629983893424	0.172
18	34092393	C	T	18	36512430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00397492468195974	0.038
18	34092394	C	A	18	36512431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00137491953884109	0.09
18	34092394	C	G	18	36512431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00132405761967185	0.072
18	34092394	C	T	18	36512431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.30348673967899E-4	0.024
18	34092395	T	A	18	36512432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999661446245864	0.934
18	34092395	T	C	18	36512432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.68806004725838E-5	0.006
18	34092395	T	G	18	36512432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0054482088856659	0.094
18	34092396	G	A	18	36512433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.00606085231024E-4	0.002
18	34092396	G	C	18	36512433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.32237616149917E-5	0.004
18	34092396	G	T	18	36512433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.05584022878514E-4	0.002
18	34092397	C	A	18	36512434	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.30780308426978E-5	0.006
18	34092397	C	G	18	36512434	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.10544355747861E-4	0.014
18	34092397	C	T	18	36512434	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.46851533731265E-4	0.008
18	34092398	C	A	18	36512435	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.744871021523454	0.544
18	34092398	C	G	18	36512435	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.957890966384542	0.71
18	34092398	C	T	18	36512435	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00397538361937251	0.128
18	34092399	A	C	18	36512436	y	y	splicing	FHOD3(NM_025135:exon5:c.406-2A>C;NM_001281740:exon5:c.406-2A>C;NM_001281739:exon5:c.406-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.406-2A>C;ENST00000445677:exon5:c.406-2A>C;ENST00000359247:exon5:c.406-2A>C;ENST00000590592:exon5:c.406-2A>C)	.	.	0.999988247793601	0.932
18	34092399	A	G	18	36512436	y	y	splicing	FHOD3(NM_025135:exon5:c.406-2A>G;NM_001281740:exon5:c.406-2A>G;NM_001281739:exon5:c.406-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.406-2A>G;ENST00000445677:exon5:c.406-2A>G;ENST00000359247:exon5:c.406-2A>G;ENST00000590592:exon5:c.406-2A>G)	.	.	0.999988247793601	0.932
18	34092399	A	T	18	36512436	y	y	splicing	FHOD3(NM_025135:exon5:c.406-2A>T;NM_001281740:exon5:c.406-2A>T;NM_001281739:exon5:c.406-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.406-2A>T;ENST00000445677:exon5:c.406-2A>T;ENST00000359247:exon5:c.406-2A>T;ENST00000590592:exon5:c.406-2A>T)	.	.	0.999988247793601	0.932
18	34092400	G	A	18	36512437	y	y	splicing	FHOD3(NM_025135:exon5:c.406-1G>A;NM_001281740:exon5:c.406-1G>A;NM_001281739:exon5:c.406-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.406-1G>A;ENST00000445677:exon5:c.406-1G>A;ENST00000359247:exon5:c.406-1G>A;ENST00000590592:exon5:c.406-1G>A)	.	.	0.999990361384395	0.938
18	34092400	G	C	18	36512437	y	y	splicing	FHOD3(NM_025135:exon5:c.406-1G>C;NM_001281740:exon5:c.406-1G>C;NM_001281739:exon5:c.406-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.406-1G>C;ENST00000445677:exon5:c.406-1G>C;ENST00000359247:exon5:c.406-1G>C;ENST00000590592:exon5:c.406-1G>C)	.	.	0.999990361384395	0.938
18	34092400	G	T	18	36512437	y	y	splicing	FHOD3(NM_025135:exon5:c.406-1G>T;NM_001281740:exon5:c.406-1G>T;NM_001281739:exon5:c.406-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.406-1G>T;ENST00000445677:exon5:c.406-1G>T;ENST00000359247:exon5:c.406-1G>T;ENST00000590592:exon5:c.406-1G>T)	.	.	0.999990361384395	0.938
18	34092401	G	A	18	36512438	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G406A:p.D136N;FHOD3:NM_001281740:exon5:c.G406A:p.D136N;FHOD3:NM_001281739:exon5:c.G406A:p.D136N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G406A:p.D136N;ENSG00000134775:ENST00000257209:exon5:c.G406A:p.D136N;ENSG00000134775:ENST00000590592:exon5:c.G406A:p.D136N;ENSG00000134775:ENST00000445677:exon5:c.G406A:p.D136N;	0.998979198020767	0.916
18	34092401	G	C	18	36512438	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G406C:p.D136H;FHOD3:NM_001281740:exon5:c.G406C:p.D136H;FHOD3:NM_001281739:exon5:c.G406C:p.D136H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G406C:p.D136H;ENSG00000134775:ENST00000257209:exon5:c.G406C:p.D136H;ENSG00000134775:ENST00000590592:exon5:c.G406C:p.D136H;ENSG00000134775:ENST00000445677:exon5:c.G406C:p.D136H;	0.99962144531678	0.932
18	34092401	G	T	18	36512438	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G406T:p.D136Y;FHOD3:NM_001281740:exon5:c.G406T:p.D136Y;FHOD3:NM_001281739:exon5:c.G406T:p.D136Y;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G406T:p.D136Y;ENSG00000134775:ENST00000257209:exon5:c.G406T:p.D136Y;ENSG00000134775:ENST00000590592:exon5:c.G406T:p.D136Y;ENSG00000134775:ENST00000445677:exon5:c.G406T:p.D136Y;	0.999700715122477	0.964
18	34092402	A	C	18	36512439	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.A407C:p.D136A;FHOD3:NM_001281740:exon5:c.A407C:p.D136A;FHOD3:NM_001281739:exon5:c.A407C:p.D136A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.A407C:p.D136A;ENSG00000134775:ENST00000257209:exon5:c.A407C:p.D136A;ENSG00000134775:ENST00000590592:exon5:c.A407C:p.D136A;ENSG00000134775:ENST00000445677:exon5:c.A407C:p.D136A;	0.94596179658999	0.858
18	34092402	A	G	18	36512439	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.A407G:p.D136G;FHOD3:NM_001281740:exon5:c.A407G:p.D136G;FHOD3:NM_001281739:exon5:c.A407G:p.D136G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.A407G:p.D136G;ENSG00000134775:ENST00000257209:exon5:c.A407G:p.D136G;ENSG00000134775:ENST00000590592:exon5:c.A407G:p.D136G;ENSG00000134775:ENST00000445677:exon5:c.A407G:p.D136G;	0.936482047245602	0.702
18	34092402	A	T	18	36512439	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.A407T:p.D136V;FHOD3:NM_001281740:exon5:c.A407T:p.D136V;FHOD3:NM_001281739:exon5:c.A407T:p.D136V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.A407T:p.D136V;ENSG00000134775:ENST00000257209:exon5:c.A407T:p.D136V;ENSG00000134775:ENST00000590592:exon5:c.A407T:p.D136V;ENSG00000134775:ENST00000445677:exon5:c.A407T:p.D136V;	0.868666599350842	0.83
18	34092504	G	A	18	36512541	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G509A:p.R170K;FHOD3:NM_001281740:exon5:c.G509A:p.R170K;FHOD3:NM_001281739:exon5:c.G509A:p.R170K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G509A:p.R170K;ENSG00000134775:ENST00000257209:exon5:c.G509A:p.R170K;ENSG00000134775:ENST00000590592:exon5:c.G509A:p.R170K;ENSG00000134775:ENST00000445677:exon5:c.G509A:p.R170K;	0.97145887165085	0.818
18	34092504	G	C	18	36512541	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G509C:p.R170T;FHOD3:NM_001281740:exon5:c.G509C:p.R170T;FHOD3:NM_001281739:exon5:c.G509C:p.R170T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G509C:p.R170T;ENSG00000134775:ENST00000257209:exon5:c.G509C:p.R170T;ENSG00000134775:ENST00000590592:exon5:c.G509C:p.R170T;ENSG00000134775:ENST00000445677:exon5:c.G509C:p.R170T;	0.97145887165085	0.782
18	34092504	G	T	18	36512541	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G509T:p.R170M;FHOD3:NM_001281740:exon5:c.G509T:p.R170M;FHOD3:NM_001281739:exon5:c.G509T:p.R170M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G509T:p.R170M;ENSG00000134775:ENST00000257209:exon5:c.G509T:p.R170M;ENSG00000134775:ENST00000590592:exon5:c.G509T:p.R170M;ENSG00000134775:ENST00000445677:exon5:c.G509T:p.R170M;	0.987099190914191	0.836
18	34092505	G	A	18	36512542	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon5:c.G510A:p.R170R;FHOD3:NM_001281740:exon5:c.G510A:p.R170R;FHOD3:NM_001281739:exon5:c.G510A:p.R170R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G510A:p.R170R;ENSG00000134775:ENST00000257209:exon5:c.G510A:p.R170R;ENSG00000134775:ENST00000590592:exon5:c.G510A:p.R170R;ENSG00000134775:ENST00000445677:exon5:c.G510A:p.R170R;	2.58647410130355E-4	0.042
18	34092505	G	C	18	36512542	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G510C:p.R170S;FHOD3:NM_001281740:exon5:c.G510C:p.R170S;FHOD3:NM_001281739:exon5:c.G510C:p.R170S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G510C:p.R170S;ENSG00000134775:ENST00000257209:exon5:c.G510C:p.R170S;ENSG00000134775:ENST00000590592:exon5:c.G510C:p.R170S;ENSG00000134775:ENST00000445677:exon5:c.G510C:p.R170S;	0.0125277520085179	0.118
18	34092505	G	T	18	36512542	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G510T:p.R170S;FHOD3:NM_001281740:exon5:c.G510T:p.R170S;FHOD3:NM_001281739:exon5:c.G510T:p.R170S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G510T:p.R170S;ENSG00000134775:ENST00000257209:exon5:c.G510T:p.R170S;ENSG00000134775:ENST00000590592:exon5:c.G510T:p.R170S;ENSG00000134775:ENST00000445677:exon5:c.G510T:p.R170S;	0.024844293721443	0.11
18	34092506	G	A	18	36512543	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G511A:p.A171T;FHOD3:NM_001281740:exon5:c.G511A:p.A171T;FHOD3:NM_001281739:exon5:c.G511A:p.A171T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G511A:p.A171T;ENSG00000134775:ENST00000257209:exon5:c.G511A:p.A171T;ENSG00000134775:ENST00000590592:exon5:c.G511A:p.A171T;ENSG00000134775:ENST00000445677:exon5:c.G511A:p.A171T;	0.999875365579837	0.938
18	34092506	G	C	18	36512543	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G511C:p.A171P;FHOD3:NM_001281740:exon5:c.G511C:p.A171P;FHOD3:NM_001281739:exon5:c.G511C:p.A171P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G511C:p.A171P;ENSG00000134775:ENST00000257209:exon5:c.G511C:p.A171P;ENSG00000134775:ENST00000590592:exon5:c.G511C:p.A171P;ENSG00000134775:ENST00000445677:exon5:c.G511C:p.A171P;	0.999902740538874	0.902
18	34092506	G	T	18	36512543	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon5:c.G511T:p.A171S;FHOD3:NM_001281740:exon5:c.G511T:p.A171S;FHOD3:NM_001281739:exon5:c.G511T:p.A171S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon5:c.G511T:p.A171S;ENSG00000134775:ENST00000257209:exon5:c.G511T:p.A171S;ENSG00000134775:ENST00000590592:exon5:c.G511T:p.A171S;ENSG00000134775:ENST00000445677:exon5:c.G511T:p.A171S;	0.999932978882837	0.942
18	34092507	G	A	18	36512544	y	y	splicing	FHOD3(NM_025135:exon5:c.511+1G>A;NM_001281740:exon5:c.511+1G>A;NM_001281739:exon5:c.511+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.511+1G>A;ENST00000445677:exon5:c.511+1G>A;ENST00000359247:exon5:c.511+1G>A;ENST00000590592:exon5:c.511+1G>A)	.	.	0.999990361384395	0.938
18	34092507	G	C	18	36512544	y	y	splicing	FHOD3(NM_025135:exon5:c.511+1G>C;NM_001281740:exon5:c.511+1G>C;NM_001281739:exon5:c.511+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.511+1G>C;ENST00000445677:exon5:c.511+1G>C;ENST00000359247:exon5:c.511+1G>C;ENST00000590592:exon5:c.511+1G>C)	.	.	0.999990361384395	0.938
18	34092507	G	T	18	36512544	y	y	splicing	FHOD3(NM_025135:exon5:c.511+1G>T;NM_001281740:exon5:c.511+1G>T;NM_001281739:exon5:c.511+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.511+1G>T;ENST00000445677:exon5:c.511+1G>T;ENST00000359247:exon5:c.511+1G>T;ENST00000590592:exon5:c.511+1G>T)	.	.	0.999990361384395	0.938
18	34092508	T	A	18	36512545	y	y	splicing	FHOD3(NM_025135:exon5:c.511+2T>A;NM_001281740:exon5:c.511+2T>A;NM_001281739:exon5:c.511+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.511+2T>A;ENST00000445677:exon5:c.511+2T>A;ENST00000359247:exon5:c.511+2T>A;ENST00000590592:exon5:c.511+2T>A)	.	.	0.999988247793601	0.932
18	34092508	T	C	18	36512545	y	y	splicing	FHOD3(NM_025135:exon5:c.511+2T>C;NM_001281740:exon5:c.511+2T>C;NM_001281739:exon5:c.511+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.511+2T>C;ENST00000445677:exon5:c.511+2T>C;ENST00000359247:exon5:c.511+2T>C;ENST00000590592:exon5:c.511+2T>C)	.	.	0.996388929962285	0.718
18	34092508	T	G	18	36512545	y	y	splicing	FHOD3(NM_025135:exon5:c.511+2T>G;NM_001281740:exon5:c.511+2T>G;NM_001281739:exon5:c.511+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon5:c.511+2T>G;ENST00000445677:exon5:c.511+2T>G;ENST00000359247:exon5:c.511+2T>G;ENST00000590592:exon5:c.511+2T>G)	.	.	0.999988247793601	0.932
18	34092509	A	C	18	36512546	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.96970111753812	0.686
18	34092509	A	G	18	36512546	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00994888160175594	0.196
18	34092509	A	T	18	36512546	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.905146754235547	0.62
18	34092510	A	C	18	36512547	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.656406769181723	0.488
18	34092510	A	G	18	36512547	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.932097154140109	0.624
18	34092510	A	T	18	36512547	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.83190663485967	0.49
18	34092511	G	A	18	36512548	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999513000338287	0.92
18	34092511	G	C	18	36512548	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999748338787892	0.898
18	34092511	G	T	18	36512548	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999523876419667	0.848
18	34092512	T	A	18	36512549	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.180292452909933	0.4
18	34092512	T	C	18	36512549	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.25541362479136	0.498
18	34092512	T	G	18	36512549	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0209027000218282	0.346
18	34092513	C	A	18	36512550	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.16047393101999E-4	0.0
18	34092513	C	G	18	36512550	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.25291422347531E-4	0.0
18	34092513	C	T	18	36512550	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.05115108973647E-4	0.0
18	34092514	A	C	18	36512551	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.01315188657279E-5	0.0
18	34092514	A	G	18	36512551	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.14806382485061E-5	0.0
18	34092514	A	T	18	36512551	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.01315188657279E-5	0.002
18	34124648	C	A	18	36544685	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	2.43933130591801E-4	0.028
18	34124648	C	G	18	36544685	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	1.90372362781104E-4	0.02
18	34124648	C	T	18	36544685	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	3.43189514765741E-4	0.024
18	34124649	A	C	18	36544686	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	3.75274067003406E-5	0.0
18	34124649	A	G	18	36544686	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	3.75274067003406E-5	0.0
18	34124649	A	T	18	36544686	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	5.39369250824794E-5	0.0
18	34124650	G	A	18	36544687	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	0.00159610464863394	0.022
18	34124650	G	C	18	36544687	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	0.0016918016095182	0.032
18	34124650	G	T	18	36544687	n	y	intronic	FHOD3	.	.	UTR5	ENSG00000134775	.	.	0.00118586876786916	0.026
18	34124651	G	A	18	36544688	n	y	intronic	FHOD3	.	.	splicing	ENSG00000134775	.	.	0.0148371759462779	0.048
18	34124651	G	C	18	36544688	n	y	intronic	FHOD3	.	.	splicing	ENSG00000134775	.	.	0.0148371759462779	0.042
18	34124651	G	T	18	36544688	n	y	intronic	FHOD3	.	.	splicing	ENSG00000134775	.	.	0.0148371759462779	0.044
18	34124652	T	A	18	36544689	n	y	intronic	FHOD3	.	.	splicing	ENSG00000134775	.	.	0.00480560598733217	0.014
18	34124652	T	C	18	36544689	n	y	intronic	FHOD3	.	.	splicing	ENSG00000134775	.	.	0.00471374229502938	0.018
18	34124652	T	G	18	36544689	n	y	intronic	FHOD3	.	.	splicing	ENSG00000134775	.	.	0.00471374229502938	0.016
18	34124653	G	A	18	36544690	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.39179256655471E-4	0.01
18	34124653	G	C	18	36544690	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.04216853070732E-4	0.008
18	34124653	G	T	18	36544690	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.39179256655471E-4	0.032
18	34124654	A	C	18	36544691	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.70373002829532E-4	0.006
18	34124654	A	G	18	36544691	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.70373002829532E-4	0.006
18	34124654	A	T	18	36544691	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.70373002829532E-4	0.002
18	34124655	G	A	18	36544692	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0148371759462779	0.046
18	34124655	G	C	18	36544692	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0148371759462779	0.042
18	34124655	G	T	18	36544692	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0148371759462779	0.042
18	34124656	T	A	18	36544693	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.90163009811314E-5	0.0
18	34124656	T	C	18	36544693	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.64994534318164E-5	0.0
18	34124656	T	G	18	36544693	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.64994534318164E-5	0.0
18	34124657	G	A	18	36544694	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.83014417619686E-5	0.016
18	34124657	G	C	18	36544694	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.59646426109411E-5	0.016
18	34124657	G	T	18	36544694	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.83014417619686E-5	0.016
18	34124658	T	A	18	36544695	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.46844991217429E-5	0.004
18	34124658	T	C	18	36544695	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.17564447662592E-4	0.004
18	34124658	T	G	18	36544695	n	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.17564447662592E-4	0.004
18	34156402	T	A	18	36576439	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.940236391976674	0.846
18	34156402	T	C	18	36576439	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.82022789108751E-5	0.008
18	34156402	T	G	18	36576439	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.52958431234984E-4	0.046
18	34156403	G	A	18	36576440	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.35735905828037E-5	0.0
18	34156403	G	C	18	36576440	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.22710557693487E-5	0.0
18	34156403	G	T	18	36576440	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.28573566970639E-5	0.0
18	34156404	T	A	18	36576441	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.58394458281824E-4	0.066
18	34156404	T	C	18	36576441	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.81961045700796E-5	0.002
18	34156404	T	G	18	36576441	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.44534604362106E-5	0.042
18	34156405	T	A	18	36576442	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.29035631916454E-5	0.044
18	34156405	T	C	18	36576442	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.21159323945206E-5	0.002
18	34156405	T	G	18	36576442	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.03068353747602E-4	0.068
18	34156406	T	A	18	36576443	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.65230751505643E-5	0.006
18	34156406	T	C	18	36576443	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.20836907638719E-5	0.0
18	34156406	T	G	18	36576443	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.21567063377527E-5	0.03
18	34156407	T	A	18	36576444	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.1241483044611E-4	0.084
18	34156407	T	C	18	36576444	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.67408537782336E-5	0.014
18	34156407	T	G	18	36576444	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.61512491046759E-4	0.088
18	34156408	C	A	18	36576445	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.85250602133046E-4	0.17
18	34156408	C	G	18	36576445	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.28854939957196E-4	0.176
18	34156408	C	T	18	36576445	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.16930573349043E-5	0.024
18	34156409	T	A	18	36576446	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.989348821932165	0.896
18	34156409	T	C	18	36576446	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.7985209687435E-4	0.042
18	34156409	T	G	18	36576446	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0029071905921338	0.238
18	34156410	G	A	18	36576447	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.1583907502259E-5	0.0
18	34156410	G	C	18	36576447	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.40173270250616E-6	0.0
18	34156410	G	T	18	36576447	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.53929084429736E-6	0.0
18	34156411	T	A	18	36576448	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00477019596713809	0.12
18	34156411	T	C	18	36576448	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.78689969009188E-5	0.01
18	34156411	T	G	18	36576448	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996214160471735	0.716
18	34156412	A	C	18	36576449	y	y	splicing	FHOD3(NM_025135:exon6:c.512-2A>C;NM_001281740:exon6:c.512-2A>C;NM_001281739:exon6:c.512-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.512-2A>C;ENST00000445677:exon6:c.512-2A>C;ENST00000359247:exon6:c.512-2A>C;ENST00000590592:exon6:c.512-2A>C)	.	.	0.999955107838025	0.918
18	34156412	A	G	18	36576449	y	y	splicing	FHOD3(NM_025135:exon6:c.512-2A>G;NM_001281740:exon6:c.512-2A>G;NM_001281739:exon6:c.512-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.512-2A>G;ENST00000445677:exon6:c.512-2A>G;ENST00000359247:exon6:c.512-2A>G;ENST00000590592:exon6:c.512-2A>G)	.	.	0.999955107838025	0.918
18	34156412	A	T	18	36576449	y	y	splicing	FHOD3(NM_025135:exon6:c.512-2A>T;NM_001281740:exon6:c.512-2A>T;NM_001281739:exon6:c.512-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.512-2A>T;ENST00000445677:exon6:c.512-2A>T;ENST00000359247:exon6:c.512-2A>T;ENST00000590592:exon6:c.512-2A>T)	.	.	0.999982603165682	0.918
18	34156413	G	A	18	36576450	y	y	splicing	FHOD3(NM_025135:exon6:c.512-1G>A;NM_001281740:exon6:c.512-1G>A;NM_001281739:exon6:c.512-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.512-1G>A;ENST00000445677:exon6:c.512-1G>A;ENST00000359247:exon6:c.512-1G>A;ENST00000590592:exon6:c.512-1G>A)	.	.	0.999985532734767	0.938
18	34156413	G	C	18	36576450	y	y	splicing	FHOD3(NM_025135:exon6:c.512-1G>C;NM_001281740:exon6:c.512-1G>C;NM_001281739:exon6:c.512-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.512-1G>C;ENST00000445677:exon6:c.512-1G>C;ENST00000359247:exon6:c.512-1G>C;ENST00000590592:exon6:c.512-1G>C)	.	.	0.999985532734767	0.936
18	34156413	G	T	18	36576450	y	y	splicing	FHOD3(NM_025135:exon6:c.512-1G>T;NM_001281740:exon6:c.512-1G>T;NM_001281739:exon6:c.512-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.512-1G>T;ENST00000445677:exon6:c.512-1G>T;ENST00000359247:exon6:c.512-1G>T;ENST00000590592:exon6:c.512-1G>T)	.	.	0.999985532734767	0.936
18	34156414	C	A	18	36576451	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.C512A:p.A171D;FHOD3:NM_001281740:exon6:c.C512A:p.A171D;FHOD3:NM_001281739:exon6:c.C512A:p.A171D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.C512A:p.A171D;ENSG00000134775:ENST00000257209:exon6:c.C512A:p.A171D;ENSG00000134775:ENST00000590592:exon6:c.C512A:p.A171D;ENSG00000134775:ENST00000445677:exon6:c.C512A:p.A171D;	0.940602148592563	0.824
18	34156414	C	G	18	36576451	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.C512G:p.A171G;FHOD3:NM_001281740:exon6:c.C512G:p.A171G;FHOD3:NM_001281739:exon6:c.C512G:p.A171G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.C512G:p.A171G;ENSG00000134775:ENST00000257209:exon6:c.C512G:p.A171G;ENSG00000134775:ENST00000590592:exon6:c.C512G:p.A171G;ENSG00000134775:ENST00000445677:exon6:c.C512G:p.A171G;	0.943684171053751	0.776
18	34156414	C	T	18	36576451	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.C512T:p.A171V;FHOD3:NM_001281740:exon6:c.C512T:p.A171V;FHOD3:NM_001281739:exon6:c.C512T:p.A171V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.C512T:p.A171V;ENSG00000134775:ENST00000257209:exon6:c.C512T:p.A171V;ENSG00000134775:ENST00000590592:exon6:c.C512T:p.A171V;ENSG00000134775:ENST00000445677:exon6:c.C512T:p.A171V;	0.989200091043547	0.858
18	34156415	T	A	18	36576452	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon6:c.T513A:p.A171A;FHOD3:NM_001281740:exon6:c.T513A:p.A171A;FHOD3:NM_001281739:exon6:c.T513A:p.A171A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.T513A:p.A171A;ENSG00000134775:ENST00000257209:exon6:c.T513A:p.A171A;ENSG00000134775:ENST00000590592:exon6:c.T513A:p.A171A;ENSG00000134775:ENST00000445677:exon6:c.T513A:p.A171A;	1.91677195286669E-4	0.01
18	34156415	T	C	18	36576452	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon6:c.T513C:p.A171A;FHOD3:NM_001281740:exon6:c.T513C:p.A171A;FHOD3:NM_001281739:exon6:c.T513C:p.A171A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.T513C:p.A171A;ENSG00000134775:ENST00000257209:exon6:c.T513C:p.A171A;ENSG00000134775:ENST00000590592:exon6:c.T513C:p.A171A;ENSG00000134775:ENST00000445677:exon6:c.T513C:p.A171A;	1.99254076616357E-4	0.02
18	34156415	T	G	18	36576452	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon6:c.T513G:p.A171A;FHOD3:NM_001281740:exon6:c.T513G:p.A171A;FHOD3:NM_001281739:exon6:c.T513G:p.A171A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.T513G:p.A171A;ENSG00000134775:ENST00000257209:exon6:c.T513G:p.A171A;ENSG00000134775:ENST00000590592:exon6:c.T513G:p.A171A;ENSG00000134775:ENST00000445677:exon6:c.T513G:p.A171A;	7.11831282611197E-5	0.004
18	34156506	A	C	18	36576543	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.A604C:p.K202Q;FHOD3:NM_001281740:exon6:c.A604C:p.K202Q;FHOD3:NM_001281739:exon6:c.A604C:p.K202Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.A604C:p.K202Q;ENSG00000134775:ENST00000257209:exon6:c.A604C:p.K202Q;ENSG00000134775:ENST00000590592:exon6:c.A604C:p.K202Q;ENSG00000134775:ENST00000445677:exon6:c.A604C:p.K202Q;	0.182104939983451	0.434
18	34156506	A	G	18	36576543	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.A604G:p.K202E;FHOD3:NM_001281740:exon6:c.A604G:p.K202E;FHOD3:NM_001281739:exon6:c.A604G:p.K202E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.A604G:p.K202E;ENSG00000134775:ENST00000257209:exon6:c.A604G:p.K202E;ENSG00000134775:ENST00000590592:exon6:c.A604G:p.K202E;ENSG00000134775:ENST00000445677:exon6:c.A604G:p.K202E;	0.080408309969319	0.334
18	34156506	A	T	18	36576543	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon6:c.A604T:p.K202X;FHOD3:NM_001281740:exon6:c.A604T:p.K202X;FHOD3:NM_001281739:exon6:c.A604T:p.K202X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon6:c.A604T:p.K202X;ENSG00000134775:ENST00000257209:exon6:c.A604T:p.K202X;ENSG00000134775:ENST00000590592:exon6:c.A604T:p.K202X;ENSG00000134775:ENST00000445677:exon6:c.A604T:p.K202X;	0.936040274526555	0.664
18	34156507	A	C	18	36576544	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.A605C:p.K202T;FHOD3:NM_001281740:exon6:c.A605C:p.K202T;FHOD3:NM_001281739:exon6:c.A605C:p.K202T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.A605C:p.K202T;ENSG00000134775:ENST00000257209:exon6:c.A605C:p.K202T;ENSG00000134775:ENST00000590592:exon6:c.A605C:p.K202T;ENSG00000134775:ENST00000445677:exon6:c.A605C:p.K202T;	0.991793054878628	0.87
18	34156507	A	G	18	36576544	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.A605G:p.K202R;FHOD3:NM_001281740:exon6:c.A605G:p.K202R;FHOD3:NM_001281739:exon6:c.A605G:p.K202R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.A605G:p.K202R;ENSG00000134775:ENST00000257209:exon6:c.A605G:p.K202R;ENSG00000134775:ENST00000590592:exon6:c.A605G:p.K202R;ENSG00000134775:ENST00000445677:exon6:c.A605G:p.K202R;	0.988047375093427	0.96
18	34156507	A	T	18	36576544	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.A605T:p.K202M;FHOD3:NM_001281740:exon6:c.A605T:p.K202M;FHOD3:NM_001281739:exon6:c.A605T:p.K202M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.A605T:p.K202M;ENSG00000134775:ENST00000257209:exon6:c.A605T:p.K202M;ENSG00000134775:ENST00000590592:exon6:c.A605T:p.K202M;ENSG00000134775:ENST00000445677:exon6:c.A605T:p.K202M;	0.990919212049377	0.614
18	34156508	G	A	18	36576545	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon6:c.G606A:p.K202K;FHOD3:NM_001281740:exon6:c.G606A:p.K202K;FHOD3:NM_001281739:exon6:c.G606A:p.K202K;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.G606A:p.K202K;ENSG00000134775:ENST00000257209:exon6:c.G606A:p.K202K;ENSG00000134775:ENST00000590592:exon6:c.G606A:p.K202K;ENSG00000134775:ENST00000445677:exon6:c.G606A:p.K202K;	0.999581280893102	0.96
18	34156508	G	C	18	36576545	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.G606C:p.K202N;FHOD3:NM_001281740:exon6:c.G606C:p.K202N;FHOD3:NM_001281739:exon6:c.G606C:p.K202N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.G606C:p.K202N;ENSG00000134775:ENST00000257209:exon6:c.G606C:p.K202N;ENSG00000134775:ENST00000590592:exon6:c.G606C:p.K202N;ENSG00000134775:ENST00000445677:exon6:c.G606C:p.K202N;	0.999970221734324	0.946
18	34156508	G	T	18	36576545	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon6:c.G606T:p.K202N;FHOD3:NM_001281740:exon6:c.G606T:p.K202N;FHOD3:NM_001281739:exon6:c.G606T:p.K202N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon6:c.G606T:p.K202N;ENSG00000134775:ENST00000257209:exon6:c.G606T:p.K202N;ENSG00000134775:ENST00000590592:exon6:c.G606T:p.K202N;ENSG00000134775:ENST00000445677:exon6:c.G606T:p.K202N;	0.999900130733464	0.964
18	34156509	G	A	18	36576546	y	y	splicing	FHOD3(NM_025135:exon6:c.606+1G>A;NM_001281740:exon6:c.606+1G>A;NM_001281739:exon6:c.606+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.606+1G>A;ENST00000445677:exon6:c.606+1G>A;ENST00000359247:exon6:c.606+1G>A;ENST00000590592:exon6:c.606+1G>A)	.	.	0.999985532734767	0.938
18	34156509	G	C	18	36576546	y	y	splicing	FHOD3(NM_025135:exon6:c.606+1G>C;NM_001281740:exon6:c.606+1G>C;NM_001281739:exon6:c.606+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.606+1G>C;ENST00000445677:exon6:c.606+1G>C;ENST00000359247:exon6:c.606+1G>C;ENST00000590592:exon6:c.606+1G>C)	.	.	0.999985532734767	0.938
18	34156509	G	T	18	36576546	y	y	splicing	FHOD3(NM_025135:exon6:c.606+1G>T;NM_001281740:exon6:c.606+1G>T;NM_001281739:exon6:c.606+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.606+1G>T;ENST00000445677:exon6:c.606+1G>T;ENST00000359247:exon6:c.606+1G>T;ENST00000590592:exon6:c.606+1G>T)	.	.	0.999985532734767	0.938
18	34156510	T	A	18	36576547	y	y	splicing	FHOD3(NM_025135:exon6:c.606+2T>A;NM_001281740:exon6:c.606+2T>A;NM_001281739:exon6:c.606+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.606+2T>A;ENST00000445677:exon6:c.606+2T>A;ENST00000359247:exon6:c.606+2T>A;ENST00000590592:exon6:c.606+2T>A)	.	.	0.999988247793601	0.93
18	34156510	T	C	18	36576547	y	y	splicing	FHOD3(NM_025135:exon6:c.606+2T>C;NM_001281740:exon6:c.606+2T>C;NM_001281739:exon6:c.606+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.606+2T>C;ENST00000445677:exon6:c.606+2T>C;ENST00000359247:exon6:c.606+2T>C;ENST00000590592:exon6:c.606+2T>C)	.	.	0.99340600729494	0.676
18	34156510	T	G	18	36576547	y	y	splicing	FHOD3(NM_025135:exon6:c.606+2T>G;NM_001281740:exon6:c.606+2T>G;NM_001281739:exon6:c.606+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon6:c.606+2T>G;ENST00000445677:exon6:c.606+2T>G;ENST00000359247:exon6:c.606+2T>G;ENST00000590592:exon6:c.606+2T>G)	.	.	0.999988247793601	0.93
18	34156511	A	C	18	36576548	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998984632651487	0.902
18	34156511	A	G	18	36576548	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.284368842952927	0.374
18	34156511	A	T	18	36576548	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998164912543915	0.96
18	34156512	A	C	18	36576549	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.898791407644955	0.648
18	34156512	A	G	18	36576549	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99062338775674	0.672
18	34156512	A	T	18	36576549	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.923052345624157	0.662
18	34156513	G	A	18	36576550	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.880246131762684	0.57
18	34156513	G	C	18	36576550	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.573698066522544	0.52
18	34156513	G	T	18	36576550	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.917281185980139	0.494
18	34156514	G	A	18	36576551	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.79640797136124E-4	0.002
18	34156514	G	C	18	36576551	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.1056258699573E-4	0.018
18	34156514	G	T	18	36576551	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.24612677156366E-5	0.0
18	34156515	G	A	18	36576552	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.10138825602451E-5	0.0
18	34156515	G	C	18	36576552	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.9383400781163E-5	0.006
18	34156515	G	T	18	36576552	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.10138825602451E-5	0.008
18	34156516	G	A	18	36576553	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.05808194911997E-5	0.0
18	34156516	G	C	18	36576553	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.23986773567894E-5	0.0
18	34156516	G	T	18	36576553	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.05808194911997E-5	0.0
18	34174738	C	A	18	36594775	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00115034149038892	0.07
18	34174738	C	G	18	36594775	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.64517661683272E-4	0.066
18	34174738	C	T	18	36594775	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.62873212352212E-4	0.012
18	34174739	T	A	18	36594776	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.95459330656329	0.63
18	34174739	T	C	18	36594776	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0414714305569754	0.202
18	34174739	T	G	18	36594776	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.67720327278624	0.506
18	34174740	C	A	18	36594777	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.13344961941169E-4	0.04
18	34174740	C	G	18	36594777	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.93489558022183E-4	0.042
18	34174740	C	T	18	36594777	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.84275610127688E-5	0.0
18	34174741	T	A	18	36594778	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0135606238529082	0.274
18	34174741	T	C	18	36594778	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.45023301565316E-5	0.004
18	34174741	T	G	18	36594778	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0154671683519522	0.292
18	34174742	T	A	18	36594779	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0185743700951113	0.258
18	34174742	T	C	18	36594779	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.28927447856576E-5	0.016
18	34174742	T	G	18	36594779	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0216733920178378	0.258
18	34174743	C	A	18	36594780	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0025064217525027	0.11
18	34174743	C	G	18	36594780	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.26059761143878E-4	0.056
18	34174743	C	T	18	36594780	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.43074862928517E-5	0.002
18	34174744	T	A	18	36594781	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999922213853221	0.984
18	34174744	T	C	18	36594781	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.49479902982875E-4	0.01
18	34174744	T	G	18	36594781	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.26748206449493	0.474
18	34174745	G	A	18	36594782	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.20371154089634E-5	0.0
18	34174745	G	C	18	36594782	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.09740216807318E-6	0.012
18	34174745	G	T	18	36594782	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.65047354028333E-5	0.0
18	34174746	C	A	18	36594783	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.91148138991495E-6	0.006
18	34174746	C	G	18	36594783	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.62200522233939E-5	0.142
18	34174746	C	T	18	36594783	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.14852206220102E-5	0.014
18	34174747	C	A	18	36594784	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.954516173986474	0.77
18	34174747	C	G	18	36594784	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999808849310616	0.912
18	34174747	C	T	18	36594784	y	n	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00715067971362894	0.214
18	34174748	A	C	18	36594785	y	n	splicing	FHOD3(NM_025135:exon7:c.607-2A>C;NM_001281740:exon7:c.607-2A>C;NM_001281739:exon7:c.607-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.607-2A>C;ENST00000445677:exon7:c.607-2A>C;ENST00000359247:exon7:c.607-2A>C;ENST00000590592:exon7:c.607-2A>C)	.	.	0.999728728649773	0.856
18	34174748	A	G	18	36594785	y	n	splicing	FHOD3(NM_025135:exon7:c.607-2A>G;NM_001281740:exon7:c.607-2A>G;NM_001281739:exon7:c.607-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.607-2A>G;ENST00000445677:exon7:c.607-2A>G;ENST00000359247:exon7:c.607-2A>G;ENST00000590592:exon7:c.607-2A>G)	.	.	0.999728728649773	0.854
18	34174748	A	T	18	36594785	y	n	splicing	FHOD3(NM_025135:exon7:c.607-2A>T;NM_001281740:exon7:c.607-2A>T;NM_001281739:exon7:c.607-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.607-2A>T;ENST00000445677:exon7:c.607-2A>T;ENST00000359247:exon7:c.607-2A>T;ENST00000590592:exon7:c.607-2A>T)	.	.	0.999778082668778	0.866
18	34174749	G	A	18	36594786	y	n	splicing	FHOD3(NM_025135:exon7:c.607-1G>A;NM_001281740:exon7:c.607-1G>A;NM_001281739:exon7:c.607-1G>A)	.	.	exonic;splicing	ENSG00000134775;ENSG00000134775(ENST00000257209:exon7:c.607-1G>A;ENST00000445677:exon7:c.607-1G>A;ENST00000359247:exon7:c.607-1G>A;ENST00000590592:exon7:c.607-1G>A)	unknown	UNKNOWN	0.999970979872167	0.896
18	34174749	G	C	18	36594786	y	n	splicing	FHOD3(NM_025135:exon7:c.607-1G>C;NM_001281740:exon7:c.607-1G>C;NM_001281739:exon7:c.607-1G>C)	.	.	exonic;splicing	ENSG00000134775;ENSG00000134775(ENST00000257209:exon7:c.607-1G>C;ENST00000445677:exon7:c.607-1G>C;ENST00000359247:exon7:c.607-1G>C;ENST00000590592:exon7:c.607-1G>C)	unknown	UNKNOWN	0.999982674559415	0.896
18	34174749	G	T	18	36594786	y	n	splicing	FHOD3(NM_025135:exon7:c.607-1G>T;NM_001281740:exon7:c.607-1G>T;NM_001281739:exon7:c.607-1G>T)	.	.	exonic;splicing	ENSG00000134775;ENSG00000134775(ENST00000257209:exon7:c.607-1G>T;ENST00000445677:exon7:c.607-1G>T;ENST00000359247:exon7:c.607-1G>T;ENST00000590592:exon7:c.607-1G>T)	unknown	UNKNOWN	0.999982674559415	0.898
18	34174750	T	A	18	36594787	y	n	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.T607A:p.F203I;FHOD3:NM_001281740:exon7:c.T607A:p.F203I;FHOD3:NM_001281739:exon7:c.T607A:p.F203I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.T607A:p.F203I;ENSG00000134775:ENST00000257209:exon7:c.T607A:p.F203I;ENSG00000134775:ENST00000590592:exon7:c.T607A:p.F203I;ENSG00000134775:ENST00000445677:exon7:c.T607A:p.F203I;	0.523220732019928	0.644
18	34174750	T	C	18	36594787	y	n	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.T607C:p.F203L;FHOD3:NM_001281740:exon7:c.T607C:p.F203L;FHOD3:NM_001281739:exon7:c.T607C:p.F203L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.T607C:p.F203L;ENSG00000134775:ENST00000257209:exon7:c.T607C:p.F203L;ENSG00000134775:ENST00000590592:exon7:c.T607C:p.F203L;ENSG00000134775:ENST00000445677:exon7:c.T607C:p.F203L;	0.715979469122029	0.576
18	34174750	T	G	18	36594787	y	n	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.T607G:p.F203V;FHOD3:NM_001281740:exon7:c.T607G:p.F203V;FHOD3:NM_001281739:exon7:c.T607G:p.F203V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.T607G:p.F203V;ENSG00000134775:ENST00000257209:exon7:c.T607G:p.F203V;ENSG00000134775:ENST00000590592:exon7:c.T607G:p.F203V;ENSG00000134775:ENST00000445677:exon7:c.T607G:p.F203V;	0.609365665560362	0.512
18	34174751	T	A	18	36594788	y	n	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.T608A:p.F203Y;FHOD3:NM_001281740:exon7:c.T608A:p.F203Y;FHOD3:NM_001281739:exon7:c.T608A:p.F203Y;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.T608A:p.F203Y;ENSG00000134775:ENST00000257209:exon7:c.T608A:p.F203Y;ENSG00000134775:ENST00000590592:exon7:c.T608A:p.F203Y;ENSG00000134775:ENST00000445677:exon7:c.T608A:p.F203Y;	0.149668163460408	0.26
18	34174751	T	C	18	36594788	y	n	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.T608C:p.F203S;FHOD3:NM_001281740:exon7:c.T608C:p.F203S;FHOD3:NM_001281739:exon7:c.T608C:p.F203S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.T608C:p.F203S;ENSG00000134775:ENST00000257209:exon7:c.T608C:p.F203S;ENSG00000134775:ENST00000590592:exon7:c.T608C:p.F203S;ENSG00000134775:ENST00000445677:exon7:c.T608C:p.F203S;	0.0556931786901278	0.276
18	34174751	T	G	18	36594788	y	n	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.T608G:p.F203C;FHOD3:NM_001281740:exon7:c.T608G:p.F203C;FHOD3:NM_001281739:exon7:c.T608G:p.F203C;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.T608G:p.F203C;ENSG00000134775:ENST00000257209:exon7:c.T608G:p.F203C;ENSG00000134775:ENST00000590592:exon7:c.T608G:p.F203C;ENSG00000134775:ENST00000445677:exon7:c.T608G:p.F203C;	0.522316339195531	0.39
18	34174859	G	A	18	36594896	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.G716A:p.R239K;FHOD3:NM_001281740:exon7:c.G716A:p.R239K;FHOD3:NM_001281739:exon7:c.G716A:p.R239K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.G716A:p.R239K;ENSG00000134775:ENST00000257209:exon7:c.G716A:p.R239K;ENSG00000134775:ENST00000590592:exon7:c.G716A:p.R239K;ENSG00000134775:ENST00000445677:exon7:c.G716A:p.R239K;	8.77206524590706E-5	0.012
18	34174859	G	C	18	36594896	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.G716C:p.R239T;FHOD3:NM_001281740:exon7:c.G716C:p.R239T;FHOD3:NM_001281739:exon7:c.G716C:p.R239T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.G716C:p.R239T;ENSG00000134775:ENST00000257209:exon7:c.G716C:p.R239T;ENSG00000134775:ENST00000590592:exon7:c.G716C:p.R239T;ENSG00000134775:ENST00000445677:exon7:c.G716C:p.R239T;	8.86427492058149E-5	0.012
18	34174859	G	T	18	36594896	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.G716T:p.R239I;FHOD3:NM_001281740:exon7:c.G716T:p.R239I;FHOD3:NM_001281739:exon7:c.G716T:p.R239I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.G716T:p.R239I;ENSG00000134775:ENST00000257209:exon7:c.G716T:p.R239I;ENSG00000134775:ENST00000590592:exon7:c.G716T:p.R239I;ENSG00000134775:ENST00000445677:exon7:c.G716T:p.R239I;	0.00311031415988057	0.064
18	34174860	A	C	18	36594897	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.A717C:p.R239S;FHOD3:NM_001281740:exon7:c.A717C:p.R239S;FHOD3:NM_001281739:exon7:c.A717C:p.R239S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.A717C:p.R239S;ENSG00000134775:ENST00000257209:exon7:c.A717C:p.R239S;ENSG00000134775:ENST00000590592:exon7:c.A717C:p.R239S;ENSG00000134775:ENST00000445677:exon7:c.A717C:p.R239S;	0.221054356424424	0.556
18	34174860	A	G	18	36594897	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon7:c.A717G:p.R239R;FHOD3:NM_001281740:exon7:c.A717G:p.R239R;FHOD3:NM_001281739:exon7:c.A717G:p.R239R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.A717G:p.R239R;ENSG00000134775:ENST00000257209:exon7:c.A717G:p.R239R;ENSG00000134775:ENST00000590592:exon7:c.A717G:p.R239R;ENSG00000134775:ENST00000445677:exon7:c.A717G:p.R239R;	0.0556057392967878	0.278
18	34174860	A	T	18	36594897	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.A717T:p.R239S;FHOD3:NM_001281740:exon7:c.A717T:p.R239S;FHOD3:NM_001281739:exon7:c.A717T:p.R239S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.A717T:p.R239S;ENSG00000134775:ENST00000257209:exon7:c.A717T:p.R239S;ENSG00000134775:ENST00000590592:exon7:c.A717T:p.R239S;ENSG00000134775:ENST00000445677:exon7:c.A717T:p.R239S;	0.31421784800211	0.44
18	34174861	G	A	18	36594898	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.G718A:p.G240R;FHOD3:NM_001281740:exon7:c.G718A:p.G240R;FHOD3:NM_001281739:exon7:c.G718A:p.G240R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.G718A:p.G240R;ENSG00000134775:ENST00000257209:exon7:c.G718A:p.G240R;ENSG00000134775:ENST00000590592:exon7:c.G718A:p.G240R;ENSG00000134775:ENST00000445677:exon7:c.G718A:p.G240R;	0.995785409237112	0.846
18	34174861	G	C	18	36594898	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.G718C:p.G240R;FHOD3:NM_001281740:exon7:c.G718C:p.G240R;FHOD3:NM_001281739:exon7:c.G718C:p.G240R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.G718C:p.G240R;ENSG00000134775:ENST00000257209:exon7:c.G718C:p.G240R;ENSG00000134775:ENST00000590592:exon7:c.G718C:p.G240R;ENSG00000134775:ENST00000445677:exon7:c.G718C:p.G240R;	0.997732888323135	0.872
18	34174861	G	T	18	36594898	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon7:c.G718T:p.G240W;FHOD3:NM_001281740:exon7:c.G718T:p.G240W;FHOD3:NM_001281739:exon7:c.G718T:p.G240W;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon7:c.G718T:p.G240W;ENSG00000134775:ENST00000257209:exon7:c.G718T:p.G240W;ENSG00000134775:ENST00000590592:exon7:c.G718T:p.G240W;ENSG00000134775:ENST00000445677:exon7:c.G718T:p.G240W;	0.994717937155298	0.93
18	34174862	G	A	18	36594899	y	y	splicing	FHOD3(NM_025135:exon7:c.718+1G>A;NM_001281740:exon7:c.718+1G>A;NM_001281739:exon7:c.718+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.718+1G>A;ENST00000445677:exon7:c.718+1G>A;ENST00000359247:exon7:c.718+1G>A;ENST00000590592:exon7:c.718+1G>A;ENST00000592930:exon1:c.113+1G>A)	.	.	0.999985532734767	0.936
18	34174862	G	C	18	36594899	y	y	splicing	FHOD3(NM_025135:exon7:c.718+1G>C;NM_001281740:exon7:c.718+1G>C;NM_001281739:exon7:c.718+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.718+1G>C;ENST00000445677:exon7:c.718+1G>C;ENST00000359247:exon7:c.718+1G>C;ENST00000590592:exon7:c.718+1G>C;ENST00000592930:exon1:c.113+1G>C)	.	.	0.999974090184857	0.93
18	34174862	G	T	18	36594899	y	y	splicing	FHOD3(NM_025135:exon7:c.718+1G>T;NM_001281740:exon7:c.718+1G>T;NM_001281739:exon7:c.718+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.718+1G>T;ENST00000445677:exon7:c.718+1G>T;ENST00000359247:exon7:c.718+1G>T;ENST00000590592:exon7:c.718+1G>T;ENST00000592930:exon1:c.113+1G>T)	.	.	0.999974090184857	0.936
18	34174863	T	A	18	36594900	y	y	splicing	FHOD3(NM_025135:exon7:c.718+2T>A;NM_001281740:exon7:c.718+2T>A;NM_001281739:exon7:c.718+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.718+2T>A;ENST00000445677:exon7:c.718+2T>A;ENST00000359247:exon7:c.718+2T>A;ENST00000590592:exon7:c.718+2T>A;ENST00000592930:exon1:c.113+2T>A)	.	.	0.999978952611685	0.924
18	34174863	T	C	18	36594900	y	y	splicing	FHOD3(NM_025135:exon7:c.718+2T>C;NM_001281740:exon7:c.718+2T>C;NM_001281739:exon7:c.718+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.718+2T>C;ENST00000445677:exon7:c.718+2T>C;ENST00000359247:exon7:c.718+2T>C;ENST00000590592:exon7:c.718+2T>C;ENST00000592930:exon1:c.113+2T>C)	.	.	0.999874152059392	0.842
18	34174863	T	G	18	36594900	y	y	splicing	FHOD3(NM_025135:exon7:c.718+2T>G;NM_001281740:exon7:c.718+2T>G;NM_001281739:exon7:c.718+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon7:c.718+2T>G;ENST00000445677:exon7:c.718+2T>G;ENST00000359247:exon7:c.718+2T>G;ENST00000590592:exon7:c.718+2T>G;ENST00000592930:exon1:c.113+2T>G)	.	.	0.999978952611685	0.926
18	34174864	G	A	18	36594901	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.23908828087516E-5	0.002
18	34174864	G	C	18	36594901	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0307819746080753	0.36
18	34174864	G	T	18	36594901	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0414597958927705	0.402
18	34174865	A	C	18	36594902	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.42950909306478	0.524
18	34174865	A	G	18	36594902	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.948045821301823	0.614
18	34174865	A	T	18	36594902	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.928991684273002	0.668
18	34174866	G	A	18	36594903	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.995085028087307	0.864
18	34174866	G	C	18	36594903	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996333254405353	0.9
18	34174866	G	T	18	36594903	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996398266412202	0.88
18	34174867	T	A	18	36594904	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.187254129431642	0.516
18	34174867	T	C	18	36594904	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0505017136599349	0.38
18	34174867	T	G	18	36594904	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00795724481525429	0.298
18	34174868	A	C	18	36594905	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.77978745885032E-4	0.002
18	34174868	A	G	18	36594905	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.05409613745848E-4	0.01
18	34174868	A	T	18	36594905	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.41072199311665E-4	0.002
18	34174869	G	A	18	36594906	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.79545962655506E-5	0.004
18	34174869	G	C	18	36594906	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.99444208245176E-5	0.002
18	34174869	G	T	18	36594906	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.99444208245176E-5	0.002
18	34182625	C	A	18	36602662	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.00430069032828E-4	0.074
18	34182625	C	G	18	36602662	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.29606024683695E-4	0.048
18	34182625	C	T	18	36602662	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.38502100525614E-5	0.066
18	34182626	T	A	18	36602663	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.980013364298181	0.79
18	34182626	T	C	18	36602663	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.205861015634481	0.27
18	34182626	T	G	18	36602663	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.96993925314451	0.702
18	34182627	T	A	18	36602664	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.959673227358117	0.814
18	34182627	T	C	18	36602664	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00466983148528327	0.082
18	34182627	T	G	18	36602664	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.963058857233697	0.8
18	34182628	T	A	18	36602665	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.323834116423439	0.484
18	34182628	T	C	18	36602665	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.48692050782507E-5	0.068
18	34182628	T	G	18	36602665	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.535459915861557	0.55
18	34182629	A	C	18	36602666	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.99913849519662E-4	0.012
18	34182629	A	G	18	36602666	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.03064645077878E-5	0.006
18	34182629	A	T	18	36602666	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.36511894014512E-4	0.018
18	34182630	C	A	18	36602667	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00219572634500092	0.092
18	34182630	C	G	18	36602667	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99952050068477	0.928
18	34182630	C	T	18	36602667	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.88141887488727E-5	0.0
18	34182631	T	A	18	36602668	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.823412449553035	0.52
18	34182631	T	C	18	36602668	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00120960765609606	0.088
18	34182631	T	G	18	36602668	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.826372550152566	0.496
18	34182632	C	A	18	36602669	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.42651490247053E-4	0.054
18	34182632	C	G	18	36602669	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00139293188004963	0.116
18	34182632	C	T	18	36602669	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.41701428669515E-5	0.0
18	34182633	A	C	18	36602670	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.79683737776284E-5	0.002
18	34182633	A	G	18	36602670	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.03633264214505E-5	0.01
18	34182633	A	T	18	36602670	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.05102320890048E-5	0.002
18	34182634	T	A	18	36602671	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00462100691703312	0.168
18	34182634	T	C	18	36602671	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.19009359129889E-5	0.0
18	34182634	T	G	18	36602671	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.920677013739776	0.694
18	34182635	A	C	18	36602672	y	y	splicing	FHOD3(NM_025135:exon8:c.719-2A>C;NM_001281740:exon8:c.719-2A>C;NM_001281739:exon8:c.719-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.719-2A>C;ENST00000445677:exon8:c.719-2A>C;ENST00000359247:exon8:c.719-2A>C;ENST00000590592:exon8:c.719-2A>C;ENST00000592930:exon2:c.114-2A>C)	.	.	0.999988247793601	0.926
18	34182635	A	G	18	36602672	y	y	splicing	FHOD3(NM_025135:exon8:c.719-2A>G;NM_001281740:exon8:c.719-2A>G;NM_001281739:exon8:c.719-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.719-2A>G;ENST00000445677:exon8:c.719-2A>G;ENST00000359247:exon8:c.719-2A>G;ENST00000590592:exon8:c.719-2A>G;ENST00000592930:exon2:c.114-2A>G)	.	.	0.999988247793601	0.926
18	34182635	A	T	18	36602672	y	y	splicing	FHOD3(NM_025135:exon8:c.719-2A>T;NM_001281740:exon8:c.719-2A>T;NM_001281739:exon8:c.719-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.719-2A>T;ENST00000445677:exon8:c.719-2A>T;ENST00000359247:exon8:c.719-2A>T;ENST00000590592:exon8:c.719-2A>T;ENST00000592930:exon2:c.114-2A>T)	.	.	0.999988247793601	0.926
18	34182636	G	A	18	36602673	y	y	splicing	FHOD3(NM_025135:exon8:c.719-1G>A;NM_001281740:exon8:c.719-1G>A;NM_001281739:exon8:c.719-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.719-1G>A;ENST00000445677:exon8:c.719-1G>A;ENST00000359247:exon8:c.719-1G>A;ENST00000590592:exon8:c.719-1G>A;ENST00000592930:exon2:c.114-1G>A)	.	.	0.999986851589775	0.936
18	34182636	G	C	18	36602673	y	y	splicing	FHOD3(NM_025135:exon8:c.719-1G>C;NM_001281740:exon8:c.719-1G>C;NM_001281739:exon8:c.719-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.719-1G>C;ENST00000445677:exon8:c.719-1G>C;ENST00000359247:exon8:c.719-1G>C;ENST00000590592:exon8:c.719-1G>C;ENST00000592930:exon2:c.114-1G>C)	.	.	0.999985079902336	0.936
18	34182636	G	T	18	36602673	y	y	splicing	FHOD3(NM_025135:exon8:c.719-1G>T;NM_001281740:exon8:c.719-1G>T;NM_001281739:exon8:c.719-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.719-1G>T;ENST00000445677:exon8:c.719-1G>T;ENST00000359247:exon8:c.719-1G>T;ENST00000590592:exon8:c.719-1G>T;ENST00000592930:exon2:c.114-1G>T)	.	.	0.999986851589775	0.936
18	34182637	G	A	18	36602674	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.G719A:p.G240E;FHOD3:NM_001281740:exon8:c.G719A:p.G240E;FHOD3:NM_001281739:exon8:c.G719A:p.G240E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G719A:p.G240E;ENSG00000134775:ENST00000257209:exon8:c.G719A:p.G240E;ENSG00000134775:ENST00000590592:exon8:c.G719A:p.G240E;ENSG00000134775:ENST00000445677:exon8:c.G719A:p.G240E;	0.99938626720662	0.922
18	34182637	G	C	18	36602674	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.G719C:p.G240A;FHOD3:NM_001281740:exon8:c.G719C:p.G240A;FHOD3:NM_001281739:exon8:c.G719C:p.G240A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G719C:p.G240A;ENSG00000134775:ENST00000257209:exon8:c.G719C:p.G240A;ENSG00000134775:ENST00000590592:exon8:c.G719C:p.G240A;ENSG00000134775:ENST00000445677:exon8:c.G719C:p.G240A;	0.999603782758494	0.964
18	34182637	G	T	18	36602674	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.G719T:p.G240V;FHOD3:NM_001281740:exon8:c.G719T:p.G240V;FHOD3:NM_001281739:exon8:c.G719T:p.G240V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G719T:p.G240V;ENSG00000134775:ENST00000257209:exon8:c.G719T:p.G240V;ENSG00000134775:ENST00000590592:exon8:c.G719T:p.G240V;ENSG00000134775:ENST00000445677:exon8:c.G719T:p.G240V;	0.999817869181326	0.998
18	34182638	G	A	18	36602675	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon8:c.G720A:p.G240G;FHOD3:NM_001281740:exon8:c.G720A:p.G240G;FHOD3:NM_001281739:exon8:c.G720A:p.G240G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G720A:p.G240G;ENSG00000134775:ENST00000257209:exon8:c.G720A:p.G240G;ENSG00000134775:ENST00000590592:exon8:c.G720A:p.G240G;ENSG00000134775:ENST00000445677:exon8:c.G720A:p.G240G;	2.37736553204051E-5	0.0
18	34182638	G	C	18	36602675	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon8:c.G720C:p.G240G;FHOD3:NM_001281740:exon8:c.G720C:p.G240G;FHOD3:NM_001281739:exon8:c.G720C:p.G240G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G720C:p.G240G;ENSG00000134775:ENST00000257209:exon8:c.G720C:p.G240G;ENSG00000134775:ENST00000590592:exon8:c.G720C:p.G240G;ENSG00000134775:ENST00000445677:exon8:c.G720C:p.G240G;	1.52276608712576E-5	0.0
18	34182638	G	T	18	36602675	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon8:c.G720T:p.G240G;FHOD3:NM_001281740:exon8:c.G720T:p.G240G;FHOD3:NM_001281739:exon8:c.G720T:p.G240G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G720T:p.G240G;ENSG00000134775:ENST00000257209:exon8:c.G720T:p.G240G;ENSG00000134775:ENST00000590592:exon8:c.G720T:p.G240G;ENSG00000134775:ENST00000445677:exon8:c.G720T:p.G240G;	9.65033855432448E-6	0.0
18	34182729	A	C	18	36602766	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.A811C:p.K271Q;FHOD3:NM_001281740:exon8:c.A811C:p.K271Q;FHOD3:NM_001281739:exon8:c.A811C:p.K271Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.A811C:p.K271Q;ENSG00000134775:ENST00000257209:exon8:c.A811C:p.K271Q;ENSG00000134775:ENST00000590592:exon8:c.A811C:p.K271Q;ENSG00000134775:ENST00000445677:exon8:c.A811C:p.K271Q;	0.847217930416712	0.686
18	34182729	A	G	18	36602766	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.A811G:p.K271E;FHOD3:NM_001281740:exon8:c.A811G:p.K271E;FHOD3:NM_001281739:exon8:c.A811G:p.K271E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.A811G:p.K271E;ENSG00000134775:ENST00000257209:exon8:c.A811G:p.K271E;ENSG00000134775:ENST00000590592:exon8:c.A811G:p.K271E;ENSG00000134775:ENST00000445677:exon8:c.A811G:p.K271E;	0.725800372280265	0.492
18	34182729	A	T	18	36602766	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon8:c.A811T:p.K271X;FHOD3:NM_001281740:exon8:c.A811T:p.K271X;FHOD3:NM_001281739:exon8:c.A811T:p.K271X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon8:c.A811T:p.K271X;ENSG00000134775:ENST00000257209:exon8:c.A811T:p.K271X;ENSG00000134775:ENST00000590592:exon8:c.A811T:p.K271X;ENSG00000134775:ENST00000445677:exon8:c.A811T:p.K271X;	0.980615433678192	0.756
18	34182730	A	C	18	36602767	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.A812C:p.K271T;FHOD3:NM_001281740:exon8:c.A812C:p.K271T;FHOD3:NM_001281739:exon8:c.A812C:p.K271T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.A812C:p.K271T;ENSG00000134775:ENST00000257209:exon8:c.A812C:p.K271T;ENSG00000134775:ENST00000590592:exon8:c.A812C:p.K271T;ENSG00000134775:ENST00000445677:exon8:c.A812C:p.K271T;	0.999901504364591	0.992
18	34182730	A	G	18	36602767	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.A812G:p.K271R;FHOD3:NM_001281740:exon8:c.A812G:p.K271R;FHOD3:NM_001281739:exon8:c.A812G:p.K271R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.A812G:p.K271R;ENSG00000134775:ENST00000257209:exon8:c.A812G:p.K271R;ENSG00000134775:ENST00000590592:exon8:c.A812G:p.K271R;ENSG00000134775:ENST00000445677:exon8:c.A812G:p.K271R;	0.999967016399173	0.99
18	34182730	A	T	18	36602767	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.A812T:p.K271M;FHOD3:NM_001281740:exon8:c.A812T:p.K271M;FHOD3:NM_001281739:exon8:c.A812T:p.K271M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.A812T:p.K271M;ENSG00000134775:ENST00000257209:exon8:c.A812T:p.K271M;ENSG00000134775:ENST00000590592:exon8:c.A812T:p.K271M;ENSG00000134775:ENST00000445677:exon8:c.A812T:p.K271M;	0.999952803401226	0.998
18	34182731	G	A	18	36602768	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon8:c.G813A:p.K271K;FHOD3:NM_001281740:exon8:c.G813A:p.K271K;FHOD3:NM_001281739:exon8:c.G813A:p.K271K;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G813A:p.K271K;ENSG00000134775:ENST00000257209:exon8:c.G813A:p.K271K;ENSG00000134775:ENST00000590592:exon8:c.G813A:p.K271K;ENSG00000134775:ENST00000445677:exon8:c.G813A:p.K271K;	0.999992721747088	1.0
18	34182731	G	C	18	36602768	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.G813C:p.K271N;FHOD3:NM_001281740:exon8:c.G813C:p.K271N;FHOD3:NM_001281739:exon8:c.G813C:p.K271N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G813C:p.K271N;ENSG00000134775:ENST00000257209:exon8:c.G813C:p.K271N;ENSG00000134775:ENST00000590592:exon8:c.G813C:p.K271N;ENSG00000134775:ENST00000445677:exon8:c.G813C:p.K271N;	0.9999981677847	1.0
18	34182731	G	T	18	36602768	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon8:c.G813T:p.K271N;FHOD3:NM_001281740:exon8:c.G813T:p.K271N;FHOD3:NM_001281739:exon8:c.G813T:p.K271N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon8:c.G813T:p.K271N;ENSG00000134775:ENST00000257209:exon8:c.G813T:p.K271N;ENSG00000134775:ENST00000590592:exon8:c.G813T:p.K271N;ENSG00000134775:ENST00000445677:exon8:c.G813T:p.K271N;	0.999992189492819	1.0
18	34182732	G	A	18	36602769	y	y	splicing	FHOD3(NM_025135:exon8:c.813+1G>A;NM_001281740:exon8:c.813+1G>A;NM_001281739:exon8:c.813+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.813+1G>A;ENST00000445677:exon8:c.813+1G>A;ENST00000359247:exon8:c.813+1G>A;ENST00000590592:exon8:c.813+1G>A;ENST00000592930:exon2:c.208+1G>A)	.	.	0.999988630721284	0.938
18	34182732	G	C	18	36602769	y	y	splicing	FHOD3(NM_025135:exon8:c.813+1G>C;NM_001281740:exon8:c.813+1G>C;NM_001281739:exon8:c.813+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.813+1G>C;ENST00000445677:exon8:c.813+1G>C;ENST00000359247:exon8:c.813+1G>C;ENST00000590592:exon8:c.813+1G>C;ENST00000592930:exon2:c.208+1G>C)	.	.	0.999988630721284	0.938
18	34182732	G	T	18	36602769	y	y	splicing	FHOD3(NM_025135:exon8:c.813+1G>T;NM_001281740:exon8:c.813+1G>T;NM_001281739:exon8:c.813+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.813+1G>T;ENST00000445677:exon8:c.813+1G>T;ENST00000359247:exon8:c.813+1G>T;ENST00000590592:exon8:c.813+1G>T;ENST00000592930:exon2:c.208+1G>T)	.	.	0.999988630721284	0.938
18	34182733	T	A	18	36602770	y	y	splicing	FHOD3(NM_025135:exon8:c.813+2T>A;NM_001281740:exon8:c.813+2T>A;NM_001281739:exon8:c.813+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.813+2T>A;ENST00000445677:exon8:c.813+2T>A;ENST00000359247:exon8:c.813+2T>A;ENST00000590592:exon8:c.813+2T>A;ENST00000592930:exon2:c.208+2T>A)	.	.	0.999990764389106	0.94
18	34182733	T	C	18	36602770	y	y	splicing	FHOD3(NM_025135:exon8:c.813+2T>C;NM_001281740:exon8:c.813+2T>C;NM_001281739:exon8:c.813+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.813+2T>C;ENST00000445677:exon8:c.813+2T>C;ENST00000359247:exon8:c.813+2T>C;ENST00000590592:exon8:c.813+2T>C;ENST00000592930:exon2:c.208+2T>C)	.	.	0.994010752020144	0.69
18	34182733	T	G	18	36602770	y	y	splicing	FHOD3(NM_025135:exon8:c.813+2T>G;NM_001281740:exon8:c.813+2T>G;NM_001281739:exon8:c.813+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon8:c.813+2T>G;ENST00000445677:exon8:c.813+2T>G;ENST00000359247:exon8:c.813+2T>G;ENST00000590592:exon8:c.813+2T>G;ENST00000592930:exon2:c.208+2T>G)	.	.	0.999990764389106	0.94
18	34182734	T	A	18	36602771	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.10248313825681E-5	0.026
18	34182734	T	C	18	36602771	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.63959444868634E-4	0.09
18	34182734	T	G	18	36602771	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.79935767357336E-5	0.126
18	34182735	G	A	18	36602772	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.04298092496936E-4	0.07
18	34182735	G	C	18	36602772	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0143512053893577	0.23
18	34182735	G	T	18	36602772	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0419698491856095	0.126
18	34182736	G	A	18	36602773	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999754125159866	0.998
18	34182736	G	C	18	36602773	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999961822089546	0.996
18	34182736	G	T	18	36602773	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999942427765762	0.97
18	34182737	T	A	18	36602774	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.913926456269637	0.65
18	34182737	T	C	18	36602774	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.883723533846198	0.684
18	34182737	T	G	18	36602774	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.993406360440229	0.872
18	34182738	T	A	18	36602775	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.42603666372916E-4	0.002
18	34182738	T	C	18	36602775	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.4510694445898E-4	0.0
18	34182738	T	G	18	36602775	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.00893668090683E-5	0.0
18	34182739	G	A	18	36602776	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.21137001441611E-4	0.012
18	34182739	G	C	18	36602776	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.41887575937587E-4	0.02
18	34182739	G	T	18	36602776	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.1546828517929E-4	0.02
18	34191903	C	A	18	36611940	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.81047418432035E-4	0.044
18	34191903	C	G	18	36611940	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.46766831943848E-4	0.018
18	34191903	C	T	18	36611940	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.80072051154408E-4	0.006
18	34191904	T	A	18	36611941	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00343196368891945	0.298
18	34191904	T	C	18	36611941	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00127961979189418	0.052
18	34191904	T	G	18	36611941	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00157850422912215	0.238
18	34191905	C	A	18	36611942	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00214145755154235	0.066
18	34191905	C	G	18	36611942	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00236100201343304	0.046
18	34191905	C	T	18	36611942	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.18791549350052E-4	0.02
18	34191906	T	A	18	36611943	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.11735391747543E-4	0.078
18	34191906	T	C	18	36611943	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.20229483419598E-5	0.012
18	34191906	T	G	18	36611943	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.02899927075699E-4	0.08
18	34191907	T	A	18	36611944	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.18322805244034E-4	0.06
18	34191907	T	C	18	36611944	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.72356416274097E-5	0.002
18	34191907	T	G	18	36611944	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.68018515326576E-4	0.046
18	34191908	C	A	18	36611945	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.66782737069614E-4	0.118
18	34191908	C	G	18	36611945	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.19527434125575E-4	0.032
18	34191908	C	T	18	36611945	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.79562064258916E-4	0.0
18	34191909	T	A	18	36611946	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00221837729703322	0.08
18	34191909	T	C	18	36611946	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.67770654224046E-5	0.008
18	34191909	T	G	18	36611946	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00733000799628366	0.118
18	34191910	T	A	18	36611947	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.03824309819746E-4	0.176
18	34191910	T	C	18	36611947	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.99065482961127E-4	0.01
18	34191910	T	G	18	36611947	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00213972371078426	0.228
18	34191911	C	A	18	36611948	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.93354319540902E-5	0.0
18	34191911	C	G	18	36611948	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.07298048815215E-5	0.0
18	34191911	C	T	18	36611948	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.93354319540902E-5	0.0
18	34191912	C	A	18	36611949	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.959574694786644	0.504
18	34191912	C	G	18	36611949	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.995862303079169	0.87
18	34191912	C	T	18	36611949	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00388487176952668	0.062
18	34191913	A	C	18	36611950	y	y	splicing	FHOD3(NM_025135:exon9:c.814-2A>C;NM_001281740:exon9:c.814-2A>C;NM_001281739:exon9:c.814-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.814-2A>C;ENST00000445677:exon9:c.814-2A>C;ENST00000359247:exon9:c.814-2A>C;ENST00000590592:exon9:c.814-2A>C;ENST00000592930:exon3:c.209-2A>C)	.	.	0.999988247793601	0.932
18	34191913	A	G	18	36611950	y	y	splicing	FHOD3(NM_025135:exon9:c.814-2A>G;NM_001281740:exon9:c.814-2A>G;NM_001281739:exon9:c.814-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.814-2A>G;ENST00000445677:exon9:c.814-2A>G;ENST00000359247:exon9:c.814-2A>G;ENST00000590592:exon9:c.814-2A>G;ENST00000592930:exon3:c.209-2A>G)	.	.	0.999988247793601	0.932
18	34191913	A	T	18	36611950	y	y	splicing	FHOD3(NM_025135:exon9:c.814-2A>T;NM_001281740:exon9:c.814-2A>T;NM_001281739:exon9:c.814-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.814-2A>T;ENST00000445677:exon9:c.814-2A>T;ENST00000359247:exon9:c.814-2A>T;ENST00000590592:exon9:c.814-2A>T;ENST00000592930:exon3:c.209-2A>T)	.	.	0.999988247793601	0.932
18	34191914	G	A	18	36611951	y	y	splicing	FHOD3(NM_025135:exon9:c.814-1G>A;NM_001281740:exon9:c.814-1G>A;NM_001281739:exon9:c.814-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.814-1G>A;ENST00000445677:exon9:c.814-1G>A;ENST00000359247:exon9:c.814-1G>A;ENST00000590592:exon9:c.814-1G>A;ENST00000592930:exon3:c.209-1G>A)	.	.	0.999990361384395	0.938
18	34191914	G	C	18	36611951	y	y	splicing	FHOD3(NM_025135:exon9:c.814-1G>C;NM_001281740:exon9:c.814-1G>C;NM_001281739:exon9:c.814-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.814-1G>C;ENST00000445677:exon9:c.814-1G>C;ENST00000359247:exon9:c.814-1G>C;ENST00000590592:exon9:c.814-1G>C;ENST00000592930:exon3:c.209-1G>C)	.	.	0.999990361384395	0.938
18	34191914	G	T	18	36611951	y	y	splicing	FHOD3(NM_025135:exon9:c.814-1G>T;NM_001281740:exon9:c.814-1G>T;NM_001281739:exon9:c.814-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.814-1G>T;ENST00000445677:exon9:c.814-1G>T;ENST00000359247:exon9:c.814-1G>T;ENST00000590592:exon9:c.814-1G>T;ENST00000592930:exon3:c.209-1G>T)	.	.	0.999990361384395	0.938
18	34191915	A	C	18	36611952	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.A814C:p.T272P;FHOD3:NM_001281740:exon9:c.A814C:p.T272P;FHOD3:NM_001281739:exon9:c.A814C:p.T272P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.A814C:p.T272P;ENSG00000134775:ENST00000257209:exon9:c.A814C:p.T272P;ENSG00000134775:ENST00000590592:exon9:c.A814C:p.T272P;ENSG00000134775:ENST00000445677:exon9:c.A814C:p.T272P;	0.406056588500929	0.664
18	34191915	A	G	18	36611952	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.A814G:p.T272A;FHOD3:NM_001281740:exon9:c.A814G:p.T272A;FHOD3:NM_001281739:exon9:c.A814G:p.T272A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.A814G:p.T272A;ENSG00000134775:ENST00000257209:exon9:c.A814G:p.T272A;ENSG00000134775:ENST00000590592:exon9:c.A814G:p.T272A;ENSG00000134775:ENST00000445677:exon9:c.A814G:p.T272A;	0.680855954990441	0.724
18	34191915	A	T	18	36611952	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.A814T:p.T272S;FHOD3:NM_001281740:exon9:c.A814T:p.T272S;FHOD3:NM_001281739:exon9:c.A814T:p.T272S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.A814T:p.T272S;ENSG00000134775:ENST00000257209:exon9:c.A814T:p.T272S;ENSG00000134775:ENST00000590592:exon9:c.A814T:p.T272S;ENSG00000134775:ENST00000445677:exon9:c.A814T:p.T272S;	0.458166641661877	0.604
18	34191916	C	A	18	36611953	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.C815A:p.T272K;FHOD3:NM_001281740:exon9:c.C815A:p.T272K;FHOD3:NM_001281739:exon9:c.C815A:p.T272K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.C815A:p.T272K;ENSG00000134775:ENST00000257209:exon9:c.C815A:p.T272K;ENSG00000134775:ENST00000590592:exon9:c.C815A:p.T272K;ENSG00000134775:ENST00000445677:exon9:c.C815A:p.T272K;	0.99421810158031	0.846
18	34191916	C	G	18	36611953	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.C815G:p.T272R;FHOD3:NM_001281740:exon9:c.C815G:p.T272R;FHOD3:NM_001281739:exon9:c.C815G:p.T272R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.C815G:p.T272R;ENSG00000134775:ENST00000257209:exon9:c.C815G:p.T272R;ENSG00000134775:ENST00000590592:exon9:c.C815G:p.T272R;ENSG00000134775:ENST00000445677:exon9:c.C815G:p.T272R;	0.985116225658208	0.8
18	34191916	C	T	18	36611953	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.C815T:p.T272M;FHOD3:NM_001281740:exon9:c.C815T:p.T272M;FHOD3:NM_001281739:exon9:c.C815T:p.T272M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.C815T:p.T272M;ENSG00000134775:ENST00000257209:exon9:c.C815T:p.T272M;ENSG00000134775:ENST00000590592:exon9:c.C815T:p.T272M;ENSG00000134775:ENST00000445677:exon9:c.C815T:p.T272M;	0.976285951047782	0.86
18	34192056	G	A	18	36612093	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.G955A:p.E319K;FHOD3:NM_001281740:exon9:c.G955A:p.E319K;FHOD3:NM_001281739:exon9:c.G955A:p.E319K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.G955A:p.E319K;ENSG00000134775:ENST00000257209:exon9:c.G955A:p.E319K;ENSG00000134775:ENST00000590592:exon9:c.G955A:p.E319K;ENSG00000134775:ENST00000445677:exon9:c.G955A:p.E319K;	0.965856427024607	0.786
18	34192056	G	C	18	36612093	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.G955C:p.E319Q;FHOD3:NM_001281740:exon9:c.G955C:p.E319Q;FHOD3:NM_001281739:exon9:c.G955C:p.E319Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.G955C:p.E319Q;ENSG00000134775:ENST00000257209:exon9:c.G955C:p.E319Q;ENSG00000134775:ENST00000590592:exon9:c.G955C:p.E319Q;ENSG00000134775:ENST00000445677:exon9:c.G955C:p.E319Q;	0.952451951549688	0.704
18	34192056	G	T	18	36612093	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon9:c.G955T:p.E319X;FHOD3:NM_001281740:exon9:c.G955T:p.E319X;FHOD3:NM_001281739:exon9:c.G955T:p.E319X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon9:c.G955T:p.E319X;ENSG00000134775:ENST00000257209:exon9:c.G955T:p.E319X;ENSG00000134775:ENST00000590592:exon9:c.G955T:p.E319X;ENSG00000134775:ENST00000445677:exon9:c.G955T:p.E319X;	0.994820357201376	0.748
18	34192057	A	C	18	36612094	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.A956C:p.E319A;FHOD3:NM_001281740:exon9:c.A956C:p.E319A;FHOD3:NM_001281739:exon9:c.A956C:p.E319A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.A956C:p.E319A;ENSG00000134775:ENST00000257209:exon9:c.A956C:p.E319A;ENSG00000134775:ENST00000590592:exon9:c.A956C:p.E319A;ENSG00000134775:ENST00000445677:exon9:c.A956C:p.E319A;	0.9999002993938	0.988
18	34192057	A	G	18	36612094	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.A956G:p.E319G;FHOD3:NM_001281740:exon9:c.A956G:p.E319G;FHOD3:NM_001281739:exon9:c.A956G:p.E319G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.A956G:p.E319G;ENSG00000134775:ENST00000257209:exon9:c.A956G:p.E319G;ENSG00000134775:ENST00000590592:exon9:c.A956G:p.E319G;ENSG00000134775:ENST00000445677:exon9:c.A956G:p.E319G;	0.999959556848925	0.996
18	34192057	A	T	18	36612094	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.A956T:p.E319V;FHOD3:NM_001281740:exon9:c.A956T:p.E319V;FHOD3:NM_001281739:exon9:c.A956T:p.E319V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.A956T:p.E319V;ENSG00000134775:ENST00000257209:exon9:c.A956T:p.E319V;ENSG00000134775:ENST00000590592:exon9:c.A956T:p.E319V;ENSG00000134775:ENST00000445677:exon9:c.A956T:p.E319V;	0.999966441914707	1.0
18	34192058	G	A	18	36612095	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon9:c.G957A:p.E319E;FHOD3:NM_001281740:exon9:c.G957A:p.E319E;FHOD3:NM_001281739:exon9:c.G957A:p.E319E;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.G957A:p.E319E;ENSG00000134775:ENST00000257209:exon9:c.G957A:p.E319E;ENSG00000134775:ENST00000590592:exon9:c.G957A:p.E319E;ENSG00000134775:ENST00000445677:exon9:c.G957A:p.E319E;	0.999978322197301	0.996
18	34192058	G	C	18	36612095	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.G957C:p.E319D;FHOD3:NM_001281740:exon9:c.G957C:p.E319D;FHOD3:NM_001281739:exon9:c.G957C:p.E319D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.G957C:p.E319D;ENSG00000134775:ENST00000257209:exon9:c.G957C:p.E319D;ENSG00000134775:ENST00000590592:exon9:c.G957C:p.E319D;ENSG00000134775:ENST00000445677:exon9:c.G957C:p.E319D;	0.999994638276567	0.998
18	34192058	G	T	18	36612095	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon9:c.G957T:p.E319D;FHOD3:NM_001281740:exon9:c.G957T:p.E319D;FHOD3:NM_001281739:exon9:c.G957T:p.E319D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon9:c.G957T:p.E319D;ENSG00000134775:ENST00000257209:exon9:c.G957T:p.E319D;ENSG00000134775:ENST00000590592:exon9:c.G957T:p.E319D;ENSG00000134775:ENST00000445677:exon9:c.G957T:p.E319D;	0.999993585120544	0.98
18	34192059	G	A	18	36612096	y	y	splicing	FHOD3(NM_025135:exon9:c.957+1G>A;NM_001281740:exon9:c.957+1G>A;NM_001281739:exon9:c.957+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.957+1G>A;ENST00000445677:exon9:c.957+1G>A;ENST00000359247:exon9:c.957+1G>A;ENST00000590592:exon9:c.957+1G>A;ENST00000592930:exon3:c.352+1G>A)	.	.	0.999989072007339	0.932
18	34192059	G	C	18	36612096	y	y	splicing	FHOD3(NM_025135:exon9:c.957+1G>C;NM_001281740:exon9:c.957+1G>C;NM_001281739:exon9:c.957+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.957+1G>C;ENST00000445677:exon9:c.957+1G>C;ENST00000359247:exon9:c.957+1G>C;ENST00000590592:exon9:c.957+1G>C;ENST00000592930:exon3:c.352+1G>C)	.	.	0.999989072007339	0.932
18	34192059	G	T	18	36612096	y	y	splicing	FHOD3(NM_025135:exon9:c.957+1G>T;NM_001281740:exon9:c.957+1G>T;NM_001281739:exon9:c.957+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.957+1G>T;ENST00000445677:exon9:c.957+1G>T;ENST00000359247:exon9:c.957+1G>T;ENST00000590592:exon9:c.957+1G>T;ENST00000592930:exon3:c.352+1G>T)	.	.	0.999989072007339	0.932
18	34192060	T	A	18	36612097	y	y	splicing	FHOD3(NM_025135:exon9:c.957+2T>A;NM_001281740:exon9:c.957+2T>A;NM_001281739:exon9:c.957+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.957+2T>A;ENST00000445677:exon9:c.957+2T>A;ENST00000359247:exon9:c.957+2T>A;ENST00000590592:exon9:c.957+2T>A;ENST00000592930:exon3:c.352+2T>A)	.	.	0.999988247793601	0.934
18	34192060	T	C	18	36612097	y	y	splicing	FHOD3(NM_025135:exon9:c.957+2T>C;NM_001281740:exon9:c.957+2T>C;NM_001281739:exon9:c.957+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.957+2T>C;ENST00000445677:exon9:c.957+2T>C;ENST00000359247:exon9:c.957+2T>C;ENST00000590592:exon9:c.957+2T>C;ENST00000592930:exon3:c.352+2T>C)	.	.	0.99295178357233	0.652
18	34192060	T	G	18	36612097	y	y	splicing	FHOD3(NM_025135:exon9:c.957+2T>G;NM_001281740:exon9:c.957+2T>G;NM_001281739:exon9:c.957+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon9:c.957+2T>G;ENST00000445677:exon9:c.957+2T>G;ENST00000359247:exon9:c.957+2T>G;ENST00000590592:exon9:c.957+2T>G;ENST00000592930:exon3:c.352+2T>G)	.	.	0.999988247793601	0.932
18	34192061	A	C	18	36612098	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999922593693626	0.918
18	34192061	A	G	18	36612098	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999844556910227	0.904
18	34192061	A	T	18	36612098	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999971858169493	0.988
18	34192062	C	A	18	36612099	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.70303445668693E-5	0.038
18	34192062	C	G	18	36612099	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.85031504276587E-4	0.092
18	34192062	C	T	18	36612099	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.76677825237636E-4	0.034
18	34192063	C	A	18	36612100	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.15731606698164E-4	0.05
18	34192063	C	G	18	36612100	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.95410092965773E-4	0.08
18	34192063	C	T	18	36612100	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.05119926261286E-4	0.054
18	34192064	A	C	18	36612101	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.0792061151729E-4	0.118
18	34192064	A	G	18	36612101	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.99015039126175E-4	0.08
18	34192064	A	T	18	36612101	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.18382341986772E-4	0.016
18	34192065	G	A	18	36612102	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.68582256302429E-5	0.008
18	34192065	G	C	18	36612102	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.91308516869176E-5	0.0
18	34192065	G	T	18	36612102	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.49860533689402E-5	0.0
18	34192066	A	C	18	36612103	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.15392528342733E-4	0.0
18	34192066	A	G	18	36612103	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.92767104089649E-4	0.002
18	34192066	A	T	18	36612103	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.87113800000169E-4	0.0
18	34205462	C	A	18	36625499	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.34580190682459E-4	0.056
18	34205462	C	G	18	36625499	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.2752983180929E-4	0.034
18	34205462	C	T	18	36625499	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.30709466355402E-5	0.0
18	34205463	T	A	18	36625500	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999960269175967	0.948
18	34205463	T	C	18	36625500	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.326917087493234	0.352
18	34205463	T	G	18	36625500	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.863398732148528	0.642
18	34205464	G	A	18	36625501	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00176307608953707	0.086
18	34205464	G	C	18	36625501	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.3871530516591E-4	0.028
18	34205464	G	T	18	36625501	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.56342786952548E-4	0.078
18	34205465	C	A	18	36625502	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0405640158577336	0.286
18	34205465	C	G	18	36625502	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0369332493003068	0.294
18	34205465	C	T	18	36625502	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0355572346554952	0.484
18	34205466	T	A	18	36625503	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0500001256886964	0.204
18	34205466	T	C	18	36625503	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00426109802093455	0.06
18	34205466	T	G	18	36625503	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0063386337183602	0.078
18	34205467	T	A	18	36625504	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0211130000132195	0.16
18	34205467	T	C	18	36625504	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.11526229840554E-4	0.004
18	34205467	T	G	18	36625504	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00302416982321956	0.08
18	34205468	T	A	18	36625505	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0798360920000107	0.248
18	34205468	T	C	18	36625505	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00179826888516374	0.044
18	34205468	T	G	18	36625505	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0561656416120803	0.228
18	34205469	T	A	18	36625506	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.615010722502983	0.508
18	34205469	T	C	18	36625506	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0255426370000381	0.184
18	34205469	T	G	18	36625506	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.411739187686355	0.494
18	34205470	C	A	18	36625507	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.5884103616323E-5	0.0
18	34205470	C	G	18	36625507	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.60551948275447E-5	0.0
18	34205470	C	T	18	36625507	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.17509995497566E-5	0.0
18	34205471	C	A	18	36625508	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.912180300139259	0.542
18	34205471	C	G	18	36625508	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999065048348609	0.894
18	34205471	C	T	18	36625508	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.117242007655434	0.142
18	34205472	A	C	18	36625509	y	y	splicing	FHOD3(NM_025135:exon10:c.958-2A>C;NM_001281740:exon10:c.958-2A>C;NM_001281739:exon10:c.958-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.958-2A>C;ENST00000445677:exon10:c.958-2A>C;ENST00000359247:exon10:c.958-2A>C;ENST00000590592:exon10:c.958-2A>C;ENST00000592930:exon4:c.353-2A>C)	.	.	0.999988247793601	0.928
18	34205472	A	G	18	36625509	y	y	splicing	FHOD3(NM_025135:exon10:c.958-2A>G;NM_001281740:exon10:c.958-2A>G;NM_001281739:exon10:c.958-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.958-2A>G;ENST00000445677:exon10:c.958-2A>G;ENST00000359247:exon10:c.958-2A>G;ENST00000590592:exon10:c.958-2A>G;ENST00000592930:exon4:c.353-2A>G)	.	.	0.999988247793601	0.928
18	34205472	A	T	18	36625509	y	y	splicing	FHOD3(NM_025135:exon10:c.958-2A>T;NM_001281740:exon10:c.958-2A>T;NM_001281739:exon10:c.958-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.958-2A>T;ENST00000445677:exon10:c.958-2A>T;ENST00000359247:exon10:c.958-2A>T;ENST00000590592:exon10:c.958-2A>T;ENST00000592930:exon4:c.353-2A>T)	.	.	0.999988247793601	0.928
18	34205473	G	A	18	36625510	y	y	splicing	FHOD3(NM_025135:exon10:c.958-1G>A;NM_001281740:exon10:c.958-1G>A;NM_001281739:exon10:c.958-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.958-1G>A;ENST00000445677:exon10:c.958-1G>A;ENST00000359247:exon10:c.958-1G>A;ENST00000590592:exon10:c.958-1G>A;ENST00000592930:exon4:c.353-1G>A)	.	.	0.999985532734767	0.936
18	34205473	G	C	18	36625510	y	y	splicing	FHOD3(NM_025135:exon10:c.958-1G>C;NM_001281740:exon10:c.958-1G>C;NM_001281739:exon10:c.958-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.958-1G>C;ENST00000445677:exon10:c.958-1G>C;ENST00000359247:exon10:c.958-1G>C;ENST00000590592:exon10:c.958-1G>C;ENST00000592930:exon4:c.353-1G>C)	.	.	0.999985532734767	0.936
18	34205473	G	T	18	36625510	y	y	splicing	FHOD3(NM_025135:exon10:c.958-1G>T;NM_001281740:exon10:c.958-1G>T;NM_001281739:exon10:c.958-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.958-1G>T;ENST00000445677:exon10:c.958-1G>T;ENST00000359247:exon10:c.958-1G>T;ENST00000590592:exon10:c.958-1G>T;ENST00000592930:exon4:c.353-1G>T)	.	.	0.999985532734767	0.936
18	34205474	G	A	18	36625511	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.G958A:p.V320M;FHOD3:NM_001281740:exon10:c.G958A:p.V320M;FHOD3:NM_001281739:exon10:c.G958A:p.V320M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.G958A:p.V320M;ENSG00000134775:ENST00000257209:exon10:c.G958A:p.V320M;ENSG00000134775:ENST00000590592:exon10:c.G958A:p.V320M;ENSG00000134775:ENST00000445677:exon10:c.G958A:p.V320M;	0.0528733641385502	0.264
18	34205474	G	C	18	36625511	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.G958C:p.V320L;FHOD3:NM_001281740:exon10:c.G958C:p.V320L;FHOD3:NM_001281739:exon10:c.G958C:p.V320L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.G958C:p.V320L;ENSG00000134775:ENST00000257209:exon10:c.G958C:p.V320L;ENSG00000134775:ENST00000590592:exon10:c.G958C:p.V320L;ENSG00000134775:ENST00000445677:exon10:c.G958C:p.V320L;	0.344206662312486	0.512
18	34205474	G	T	18	36625511	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.G958T:p.V320L;FHOD3:NM_001281740:exon10:c.G958T:p.V320L;FHOD3:NM_001281739:exon10:c.G958T:p.V320L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.G958T:p.V320L;ENSG00000134775:ENST00000257209:exon10:c.G958T:p.V320L;ENSG00000134775:ENST00000590592:exon10:c.G958T:p.V320L;ENSG00000134775:ENST00000445677:exon10:c.G958T:p.V320L;	0.69412979013153	0.664
18	34205475	T	A	18	36625512	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.T959A:p.V320E;FHOD3:NM_001281740:exon10:c.T959A:p.V320E;FHOD3:NM_001281739:exon10:c.T959A:p.V320E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.T959A:p.V320E;ENSG00000134775:ENST00000257209:exon10:c.T959A:p.V320E;ENSG00000134775:ENST00000590592:exon10:c.T959A:p.V320E;ENSG00000134775:ENST00000445677:exon10:c.T959A:p.V320E;	9.35551804142924E-4	0.028
18	34205475	T	C	18	36625512	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.T959C:p.V320A;FHOD3:NM_001281740:exon10:c.T959C:p.V320A;FHOD3:NM_001281739:exon10:c.T959C:p.V320A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.T959C:p.V320A;ENSG00000134775:ENST00000257209:exon10:c.T959C:p.V320A;ENSG00000134775:ENST00000590592:exon10:c.T959C:p.V320A;ENSG00000134775:ENST00000445677:exon10:c.T959C:p.V320A;	1.54940682640133E-4	0.006
18	34205475	T	G	18	36625512	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.T959G:p.V320G;FHOD3:NM_001281740:exon10:c.T959G:p.V320G;FHOD3:NM_001281739:exon10:c.T959G:p.V320G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.T959G:p.V320G;ENSG00000134775:ENST00000257209:exon10:c.T959G:p.V320G;ENSG00000134775:ENST00000590592:exon10:c.T959G:p.V320G;ENSG00000134775:ENST00000445677:exon10:c.T959G:p.V320G;	6.15823472565684E-4	0.092
18	34205710	A	C	18	36625747	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.A1194C:p.E398D;FHOD3:NM_001281740:exon10:c.A1194C:p.E398D;FHOD3:NM_001281739:exon10:c.A1194C:p.E398D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.A1194C:p.E398D;ENSG00000134775:ENST00000257209:exon10:c.A1194C:p.E398D;ENSG00000134775:ENST00000591635:exon6:c.A218C:p.K73T;ENSG00000134775:ENST00000590592:exon10:c.A1194C:p.E398D;ENSG00000134775:ENST00000445677:exon10:c.A1194C:p.E398D;	4.01262290660919E-5	0.0
18	34205710	A	G	18	36625747	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon10:c.A1194G:p.E398E;FHOD3:NM_001281740:exon10:c.A1194G:p.E398E;FHOD3:NM_001281739:exon10:c.A1194G:p.E398E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000591635:exon6:c.A218G:p.K73R;	0.00103018313650422	0.06
18	34205710	A	T	18	36625747	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.A1194T:p.E398D;FHOD3:NM_001281740:exon10:c.A1194T:p.E398D;FHOD3:NM_001281739:exon10:c.A1194T:p.E398D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.A1194T:p.E398D;ENSG00000134775:ENST00000257209:exon10:c.A1194T:p.E398D;ENSG00000134775:ENST00000591635:exon6:c.A218T:p.K73I;ENSG00000134775:ENST00000590592:exon10:c.A1194T:p.E398D;ENSG00000134775:ENST00000445677:exon10:c.A1194T:p.E398D;	0.0320171839314591	0.298
18	34205711	A	C	18	36625748	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.A1195C:p.K399Q;FHOD3:NM_001281740:exon10:c.A1195C:p.K399Q;FHOD3:NM_001281739:exon10:c.A1195C:p.K399Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.A1195C:p.K399Q;ENSG00000134775:ENST00000257209:exon10:c.A1195C:p.K399Q;ENSG00000134775:ENST00000591635:exon6:c.A219C:p.K73N;ENSG00000134775:ENST00000590592:exon10:c.A1195C:p.K399Q;ENSG00000134775:ENST00000445677:exon10:c.A1195C:p.K399Q;	0.663804169929157	0.566
18	34205711	A	G	18	36625748	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.A1195G:p.K399E;FHOD3:NM_001281740:exon10:c.A1195G:p.K399E;FHOD3:NM_001281739:exon10:c.A1195G:p.K399E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.A1195G:p.K399E;ENSG00000134775:ENST00000257209:exon10:c.A1195G:p.K399E;ENSG00000134775:ENST00000590592:exon10:c.A1195G:p.K399E;ENSG00000134775:ENST00000445677:exon10:c.A1195G:p.K399E;	0.572069300252409	0.536
18	34205711	A	T	18	36625748	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon10:c.A1195T:p.K399X;FHOD3:NM_001281740:exon10:c.A1195T:p.K399X;FHOD3:NM_001281739:exon10:c.A1195T:p.K399X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon10:c.A1195T:p.K399X;ENSG00000134775:ENST00000257209:exon10:c.A1195T:p.K399X;ENSG00000134775:ENST00000590592:exon10:c.A1195T:p.K399X;ENSG00000134775:ENST00000445677:exon10:c.A1195T:p.K399X;	0.998897256685506	0.868
18	34205712	A	C	18	36625749	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.A1196C:p.K399T;FHOD3:NM_001281740:exon10:c.A1196C:p.K399T;FHOD3:NM_001281739:exon10:c.A1196C:p.K399T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.A1196C:p.K399T;ENSG00000134775:ENST00000257209:exon10:c.A1196C:p.K399T;ENSG00000134775:ENST00000591635:exon6:c.A220C:p.N74H;ENSG00000134775:ENST00000590592:exon10:c.A1196C:p.K399T;ENSG00000134775:ENST00000445677:exon10:c.A1196C:p.K399T;	3.08349495967662E-5	0.01
18	34205712	A	G	18	36625749	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.A1196G:p.K399R;FHOD3:NM_001281740:exon10:c.A1196G:p.K399R;FHOD3:NM_001281739:exon10:c.A1196G:p.K399R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.A1196G:p.K399R;ENSG00000134775:ENST00000257209:exon10:c.A1196G:p.K399R;ENSG00000134775:ENST00000591635:exon6:c.A220G:p.N74D;ENSG00000134775:ENST00000590592:exon10:c.A1196G:p.K399R;ENSG00000134775:ENST00000445677:exon10:c.A1196G:p.K399R;	2.46318515192622E-5	0.09
18	34205712	A	T	18	36625749	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon10:c.A1196T:p.K399I;FHOD3:NM_001281740:exon10:c.A1196T:p.K399M;FHOD3:NM_001281739:exon10:c.A1196T:p.K399I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon10:c.A1196T:p.K399I;ENSG00000134775:ENST00000257209:exon10:c.A1196T:p.K399I;ENSG00000134775:ENST00000591635:exon6:c.A220T:p.N74Y;ENSG00000134775:ENST00000590592:exon10:c.A1196T:p.K399M;ENSG00000134775:ENST00000445677:exon10:c.A1196T:p.K399M;	0.00255711921820045	0.064
18	34205713	G	A	18	36625750	y	y	splicing	FHOD3(NM_025135:exon10:c.1196+1G>A;NM_001281740:exon10:c.1196+1G>A;NM_001281739:exon10:c.1196+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.1196+1G>A;ENST00000445677:exon10:c.1196+1G>A;ENST00000359247:exon10:c.1196+1G>A;ENST00000590592:exon10:c.1196+1G>A;ENST00000591635:exon6:c.220+1G>A;ENST00000592930:exon4:c.591+1G>A)	.	.	0.999955485601963	0.904
18	34205713	G	C	18	36625750	y	y	splicing	FHOD3(NM_025135:exon10:c.1196+1G>C;NM_001281740:exon10:c.1196+1G>C;NM_001281739:exon10:c.1196+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.1196+1G>C;ENST00000445677:exon10:c.1196+1G>C;ENST00000359247:exon10:c.1196+1G>C;ENST00000590592:exon10:c.1196+1G>C;ENST00000591635:exon6:c.220+1G>C;ENST00000592930:exon4:c.591+1G>C)	.	.	0.999956785519844	0.87
18	34205713	G	T	18	36625750	y	y	splicing	FHOD3(NM_025135:exon10:c.1196+1G>T;NM_001281740:exon10:c.1196+1G>T;NM_001281739:exon10:c.1196+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.1196+1G>T;ENST00000445677:exon10:c.1196+1G>T;ENST00000359247:exon10:c.1196+1G>T;ENST00000590592:exon10:c.1196+1G>T;ENST00000591635:exon6:c.220+1G>T;ENST00000592930:exon4:c.591+1G>T)	.	.	0.999957897063701	0.892
18	34205714	T	A	18	36625751	y	y	splicing	FHOD3(NM_025135:exon10:c.1196+2T>A;NM_001281740:exon10:c.1196+2T>A;NM_001281739:exon10:c.1196+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.1196+2T>A;ENST00000445677:exon10:c.1196+2T>A;ENST00000359247:exon10:c.1196+2T>A;ENST00000590592:exon10:c.1196+2T>A;ENST00000591635:exon6:c.220+2T>A;ENST00000592930:exon4:c.591+2T>A)	.	.	0.999962958601995	0.798
18	34205714	T	C	18	36625751	y	y	splicing	FHOD3(NM_025135:exon10:c.1196+2T>C;NM_001281740:exon10:c.1196+2T>C;NM_001281739:exon10:c.1196+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.1196+2T>C;ENST00000445677:exon10:c.1196+2T>C;ENST00000359247:exon10:c.1196+2T>C;ENST00000590592:exon10:c.1196+2T>C;ENST00000591635:exon6:c.220+2T>C;ENST00000592930:exon4:c.591+2T>C)	.	.	0.829885016029984	0.532
18	34205714	T	G	18	36625751	y	y	splicing	FHOD3(NM_025135:exon10:c.1196+2T>G;NM_001281740:exon10:c.1196+2T>G;NM_001281739:exon10:c.1196+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon10:c.1196+2T>G;ENST00000445677:exon10:c.1196+2T>G;ENST00000359247:exon10:c.1196+2T>G;ENST00000590592:exon10:c.1196+2T>G;ENST00000591635:exon6:c.220+2T>G;ENST00000592930:exon4:c.591+2T>G)	.	.	0.999980255680118	0.778
18	34205715	A	C	18	36625752	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999116289034067	0.864
18	34205715	A	G	18	36625752	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00212066306599479	0.204
18	34205715	A	T	18	36625752	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999116289034067	0.88
18	34205716	A	C	18	36625753	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.164098484292539	0.382
18	34205716	A	G	18	36625753	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.77520765601637	0.622
18	34205716	A	T	18	36625753	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.846268918133801	0.69
18	34205717	G	A	18	36625754	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999985116126894	0.91
18	34205717	G	C	18	36625754	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999759610164253	0.874
18	34205717	G	T	18	36625754	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999969734117261	0.928
18	34205718	C	A	18	36625755	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.39875088135719E-5	0.036
18	34205718	C	G	18	36625755	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.27785539005593E-5	0.088
18	34205718	C	T	18	36625755	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.52394671363507E-5	0.026
18	34205719	A	C	18	36625756	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.07583359907336E-5	0.008
18	34205719	A	G	18	36625756	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.1913290652272E-5	0.008
18	34205719	A	T	18	36625756	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.59407464325214E-5	0.032
18	34205720	T	A	18	36625757	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.0375392285959E-5	0.0
18	34205720	T	C	18	36625757	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.89889814691283E-5	0.0
18	34205720	T	G	18	36625757	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.02076149340531E-5	0.0
18	34229267	G	A	18	36649304	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00851373124604499	0.094
18	34229267	G	C	18	36649304	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00473912517218743	0.088
18	34229267	G	T	18	36649304	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00725756437046287	0.094
18	34229268	C	A	18	36649305	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00649127929946501	0.126
18	34229268	C	G	18	36649305	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00325962958053956	0.094
18	34229268	C	T	18	36649305	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00778772627673823	0.124
18	34229269	T	A	18	36649306	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.23017154979204E-4	0.032
18	34229269	T	C	18	36649306	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.50979884763213E-4	0.034
18	34229269	T	G	18	36649306	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.50979884763213E-4	0.028
18	34229270	T	A	18	36649307	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.8797781069171E-5	0.112
18	34229270	T	C	18	36649307	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.80594669444072E-5	0.054
18	34229270	T	G	18	36649307	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.80594669444072E-5	0.054
18	34229271	T	A	18	36649308	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.28952865759023E-4	0.03
18	34229271	T	C	18	36649308	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.34483591289536E-4	0.002
18	34229271	T	G	18	36649308	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.34483591289536E-4	0.002
18	34229272	G	A	18	36649309	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.14418775914876E-4	0.048
18	34229272	G	C	18	36649309	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.25690374419159E-4	0.05
18	34229272	G	T	18	36649309	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.25690374419159E-4	0.05
18	34229273	T	A	18	36649310	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.892737271948E-4	0.154
18	34229273	T	C	18	36649310	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.892737271948E-4	0.192
18	34229273	T	G	18	36649310	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.892737271948E-4	0.182
18	34229274	C	A	18	36649311	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.114729214907001	0.428
18	34229274	C	G	18	36649311	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.114729214907001	0.428
18	34229274	C	T	18	36649311	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.114426343268805	0.42
18	34229275	T	A	18	36649312	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.857675228670556	0.844
18	34229275	T	C	18	36649312	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.857675228670556	0.844
18	34229275	T	G	18	36649312	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.857675228670556	0.844
18	34229276	C	A	18	36649313	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.6363175467496E-4	0.192
18	34229276	C	G	18	36649313	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.42108928093126E-4	0.186
18	34229276	C	T	18	36649313	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.6725212733572E-4	0.198
18	34229277	A	C	18	36649314	y	y	splicing	FHOD3(NM_001281740:exon11:c.1197-2A>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1197-2A>C)	.	.	0.857675228670556	0.844
18	34229277	A	G	18	36649314	y	y	splicing	FHOD3(NM_001281740:exon11:c.1197-2A>G)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1197-2A>G)	.	.	0.857675228670556	0.844
18	34229277	A	T	18	36649314	y	y	splicing	FHOD3(NM_001281740:exon11:c.1197-2A>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1197-2A>T)	.	.	0.857675228670556	0.84
18	34229278	G	A	18	36649315	y	y	splicing	FHOD3(NM_001281740:exon11:c.1197-1G>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1197-1G>A)	.	.	0.983451310503366	0.912
18	34229278	G	C	18	36649315	y	y	splicing	FHOD3(NM_001281740:exon11:c.1197-1G>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1197-1G>C)	.	.	0.98714398147765	0.914
18	34229278	G	T	18	36649315	y	y	splicing	FHOD3(NM_001281740:exon11:c.1197-1G>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1197-1G>T)	.	.	0.983451310503366	0.912
18	34229279	G	A	18	36649316	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_001281740:exon11:c.G1197A:p.K399K;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.G1197A:p.K399K;	0.988451337246128	0.884
18	34229279	G	C	18	36649316	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.G1197C:p.K399N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.G1197C:p.K399N;	0.990408102129605	0.852
18	34229279	G	T	18	36649316	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.G1197T:p.K399N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.G1197T:p.K399N;	0.988451337246128	0.876
18	34229280	G	A	18	36649317	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.G1198A:p.E400K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.G1198A:p.E400K;	0.0525769940009334	0.298
18	34229280	G	C	18	36649317	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.G1198C:p.E400Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.G1198C:p.E400Q;	0.0582551925319956	0.272
18	34229280	G	T	18	36649317	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_001281740:exon11:c.G1198T:p.E400X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000590592:exon11:c.G1198T:p.E400X;	0.0525769940009334	0.28
18	34229366	C	A	18	36649403	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.C1284A:p.D428E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.C1284A:p.D428E;	0.640944614863228	0.444
18	34229366	C	G	18	36649403	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.C1284G:p.D428E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.C1284G:p.D428E;	0.421575862709801	0.316
18	34229366	C	T	18	36649403	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_001281740:exon11:c.C1284T:p.D428D;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.C1284T:p.D428D;	0.640944614863228	0.532
18	34229367	A	C	18	36649404	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.A1285C:p.S429R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.A1285C:p.S429R;	0.390886620765127	0.638
18	34229367	A	G	18	36649404	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.A1285G:p.S429G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.A1285G:p.S429G;	0.390886620765127	0.634
18	34229367	A	T	18	36649404	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.A1285T:p.S429C;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.A1285T:p.S429C;	0.670071718772625	0.758
18	34229368	G	A	18	36649405	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.G1286A:p.S429N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.G1286A:p.S429N;	0.849231125831134	0.668
18	34229368	G	C	18	36649405	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.G1286C:p.S429T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.G1286C:p.S429T;	0.750603701749835	0.656
18	34229368	G	T	18	36649405	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon11:c.G1286T:p.S429I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon11:c.G1286T:p.S429I;	0.849231125831134	0.636
18	34229369	G	A	18	36649406	y	y	splicing	FHOD3(NM_001281740:exon11:c.1286+1G>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1286+1G>A)	.	.	0.849231125831134	0.664
18	34229369	G	C	18	36649406	y	y	splicing	FHOD3(NM_001281740:exon11:c.1286+1G>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1286+1G>C)	.	.	0.750603701749835	0.664
18	34229369	G	T	18	36649406	y	y	splicing	FHOD3(NM_001281740:exon11:c.1286+1G>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1286+1G>T)	.	.	0.849231125831134	0.632
18	34229370	T	A	18	36649407	y	y	splicing	FHOD3(NM_001281740:exon11:c.1286+2T>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1286+2T>A)	.	.	0.491590174283257	0.742
18	34229370	T	C	18	36649407	y	y	splicing	FHOD3(NM_001281740:exon11:c.1286+2T>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1286+2T>C)	.	.	0.390886620765127	0.626
18	34229370	T	G	18	36649407	y	y	splicing	FHOD3(NM_001281740:exon11:c.1286+2T>G)	.	.	splicing	ENSG00000134775(ENST00000590592:exon11:c.1286+2T>G)	.	.	0.390886620765127	0.638
18	34229371	A	C	18	36649408	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.360806995051621	0.57
18	34229371	A	G	18	36649408	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.360806995051621	0.56
18	34229371	A	T	18	36649408	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.451679428510185	0.706
18	34229372	C	A	18	36649409	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.640944614863228	0.402
18	34229372	C	G	18	36649409	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0897633671900128	0.242
18	34229372	C	T	18	36649409	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.640944614863228	0.524
18	34229373	C	A	18	36649410	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.40753978894495E-5	0.006
18	34229373	C	G	18	36649410	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.40753978894495E-5	0.01
18	34229373	C	T	18	36649410	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.40753978894495E-5	0.01
18	34229374	T	A	18	36649411	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.19855434655202E-4	0.01
18	34229374	T	C	18	36649411	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.71067823441584E-4	0.006
18	34229374	T	G	18	36649411	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.71067823441584E-4	0.006
18	34229375	A	C	18	36649412	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00115128744468825	0.0
18	34229375	A	G	18	36649412	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00115128744468825	0.0
18	34229375	A	T	18	36649412	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00115128744468825	0.0
18	34229376	G	A	18	36649413	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0010327499008663	0.002
18	34229376	G	C	18	36649413	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00116065968722173	0.004
18	34229376	G	T	18	36649413	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00100487064843151	0.002
18	34232521	C	A	18	36652558	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.56624021450067E-5	0.006
18	34232521	C	G	18	36652558	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.5129711405034E-5	0.004
18	34232521	C	T	18	36652558	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.56624021450067E-5	0.004
18	34232522	T	A	18	36652559	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.14992400490621E-4	0.0
18	34232522	T	C	18	36652559	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.14992400490621E-4	0.0
18	34232522	T	G	18	36652559	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.14992400490621E-4	0.0
18	34232523	G	A	18	36652560	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00156982018578896	0.024
18	34232523	G	C	18	36652560	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00122103863073255	0.036
18	34232523	G	T	18	36652560	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00122103863073255	0.018
18	34232524	G	A	18	36652561	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.43033388138958E-4	0.004
18	34232524	G	C	18	36652561	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.92680619839682E-4	0.004
18	34232524	G	T	18	36652561	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.43033388138958E-4	0.006
18	34232525	C	A	18	36652562	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.6714355815838E-5	0.01
18	34232525	C	G	18	36652562	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.6714355815838E-5	0.002
18	34232525	C	T	18	36652562	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.6714355815838E-5	0.002
18	34232526	C	A	18	36652563	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.08581954909107E-4	0.004
18	34232526	C	G	18	36652563	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.52408431330711E-4	0.026
18	34232526	C	T	18	36652563	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.33698758487849E-4	0.014
18	34232527	C	A	18	36652564	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.78684081159298E-5	0.002
18	34232527	C	G	18	36652564	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.78684081159298E-5	0.002
18	34232527	C	T	18	36652564	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.09395893123295E-5	0.002
18	34232528	A	C	18	36652565	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.72841159385093E-5	0.002
18	34232528	A	G	18	36652565	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.72841159385093E-5	0.002
18	34232528	A	T	18	36652565	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.72841159385093E-5	0.002
18	34232529	A	C	18	36652566	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.78674951653264E-5	0.0
18	34232529	A	G	18	36652566	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.78674951653264E-5	0.0
18	34232529	A	T	18	36652566	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.95905533305893E-5	0.0
18	34232530	C	A	18	36652567	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0013078655870363	0.006
18	34232530	C	G	18	36652567	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00110336656407202	0.006
18	34232530	C	T	18	36652567	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.02941432165824E-4	0.006
18	34232531	A	C	18	36652568	y	y	splicing	FHOD3(NM_001281740:exon12:c.1287-2A>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1287-2A>C)	.	.	0.00119963348105878	0.018
18	34232531	A	G	18	36652568	y	y	splicing	FHOD3(NM_001281740:exon12:c.1287-2A>G)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1287-2A>G)	.	.	0.00119963348105878	0.02
18	34232531	A	T	18	36652568	y	y	splicing	FHOD3(NM_001281740:exon12:c.1287-2A>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1287-2A>T)	.	.	0.00116674076377048	0.016
18	34232532	G	A	18	36652569	y	y	splicing	FHOD3(NM_001281740:exon12:c.1287-1G>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1287-1G>A)	.	.	0.00110336656407202	0.004
18	34232532	G	C	18	36652569	y	y	splicing	FHOD3(NM_001281740:exon12:c.1287-1G>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1287-1G>C)	.	.	7.84426259441964E-4	0.0
18	34232532	G	T	18	36652569	y	y	splicing	FHOD3(NM_001281740:exon12:c.1287-1G>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1287-1G>T)	.	.	0.00110336656407202	0.006
18	34232533	C	A	18	36652570	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.C1287A:p.S429R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.C1287A:p.S429R;	1.8057869992506E-5	0.004
18	34232533	C	G	18	36652570	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.C1287G:p.S429R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.C1287G:p.S429R;	1.8057869992506E-5	0.004
18	34232533	C	T	18	36652570	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_001281740:exon12:c.C1287T:p.S429S;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.C1287T:p.S429S;	1.8057869992506E-5	0.004
18	34232534	A	C	18	36652571	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.A1288C:p.K430Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.A1288C:p.K430Q;	5.5529151830241E-5	0.002
18	34232534	A	G	18	36652571	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.A1288G:p.K430E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.A1288G:p.K430E;	5.5529151830241E-5	0.0
18	34232534	A	T	18	36652571	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_001281740:exon12:c.A1288T:p.K430X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000590592:exon12:c.A1288T:p.K430X;	1.00925306948278E-4	0.0
18	34232890	C	A	18	36652927	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.C1644A:p.N548K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.C1644A:p.N548K;	0.98858617036457	0.928
18	34232890	C	G	18	36652927	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.C1644G:p.N548K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.C1644G:p.N548K;	0.98858617036457	0.934
18	34232890	C	T	18	36652927	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_001281740:exon12:c.C1644T:p.N548N;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.C1644T:p.N548N;	0.98858617036457	0.926
18	34232891	A	C	18	36652928	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.A1645C:p.S549R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.A1645C:p.S549R;	0.807755473126616	0.766
18	34232891	A	G	18	36652928	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.A1645G:p.S549G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.A1645G:p.S549G;	0.807755473126616	0.766
18	34232891	A	T	18	36652928	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.A1645T:p.S549C;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.A1645T:p.S549C;	0.807755473126616	0.762
18	34232892	G	A	18	36652929	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.G1646A:p.S549N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.G1646A:p.S549N;	0.143939362767889	0.498
18	34232892	G	C	18	36652929	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.G1646C:p.S549T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.G1646C:p.S549T;	0.143939362767889	0.498
18	34232892	G	T	18	36652929	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon12:c.G1646T:p.S549I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon12:c.G1646T:p.S549I;	0.143939362767889	0.5
18	34232893	G	A	18	36652930	y	y	splicing	FHOD3(NM_001281740:exon12:c.1646+1G>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1646+1G>A)	.	.	0.98858617036457	0.926
18	34232893	G	C	18	36652930	y	y	splicing	FHOD3(NM_001281740:exon12:c.1646+1G>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1646+1G>C)	.	.	0.98858617036457	0.934
18	34232893	G	T	18	36652930	y	y	splicing	FHOD3(NM_001281740:exon12:c.1646+1G>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1646+1G>T)	.	.	0.98858617036457	0.928
18	34232894	T	A	18	36652931	y	y	splicing	FHOD3(NM_001281740:exon12:c.1646+2T>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1646+2T>A)	.	.	0.807755473126616	0.762
18	34232894	T	C	18	36652931	y	y	splicing	FHOD3(NM_001281740:exon12:c.1646+2T>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1646+2T>C)	.	.	0.807755473126616	0.766
18	34232894	T	G	18	36652931	y	y	splicing	FHOD3(NM_001281740:exon12:c.1646+2T>G)	.	.	splicing	ENSG00000134775(ENST00000590592:exon12:c.1646+2T>G)	.	.	0.807755473126616	0.766
18	34232895	A	C	18	36652932	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.807755473126616	0.766
18	34232895	A	G	18	36652932	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.807755473126616	0.766
18	34232895	A	T	18	36652932	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.807755473126616	0.764
18	34232896	G	A	18	36652933	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.98858617036457	0.928
18	34232896	G	C	18	36652933	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.98858617036457	0.934
18	34232896	G	T	18	36652933	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.98858617036457	0.932
18	34232897	A	C	18	36652934	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0598692754141209	0.252
18	34232897	A	G	18	36652934	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0598692754141209	0.252
18	34232897	A	T	18	36652934	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0598692754141209	0.244
18	34232898	T	A	18	36652935	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.51663867021635E-4	0.214
18	34232898	T	C	18	36652935	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.51663867021635E-4	0.18
18	34232898	T	G	18	36652935	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.51663867021635E-4	0.18
18	34232899	T	A	18	36652936	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.10628870535558E-4	0.11
18	34232899	T	C	18	36652936	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.10628870535558E-4	0.108
18	34232899	T	G	18	36652936	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.10628870535558E-4	0.108
18	34232900	T	A	18	36652937	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.79407100339095E-4	0.184
18	34232900	T	C	18	36652937	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.79407100339095E-4	0.168
18	34232900	T	G	18	36652937	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.79407100339095E-4	0.166
18	34233293	T	A	18	36653330	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.87971316337423E-4	0.15
18	34233293	T	C	18	36653330	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.87971316337423E-4	0.176
18	34233293	T	G	18	36653330	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.87971316337423E-4	0.176
18	34233294	T	A	18	36653331	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0529518552706372	0.22
18	34233294	T	C	18	36653331	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0529518552706372	0.216
18	34233294	T	G	18	36653331	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0529518552706372	0.216
18	34233295	C	A	18	36653332	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.11727784104008E-4	0.11
18	34233295	C	G	18	36653332	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.11727784104008E-4	0.106
18	34233295	C	T	18	36653332	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.25801135948529E-4	0.128
18	34233296	C	A	18	36653333	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0244638653883145	0.238
18	34233296	C	G	18	36653333	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0244638653883145	0.22
18	34233296	C	T	18	36653333	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0220023935294239	0.25
18	34233297	T	A	18	36653334	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.01141764576441E-4	0.128
18	34233297	T	C	18	36653334	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.01141764576441E-4	0.136
18	34233297	T	G	18	36653334	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.01141764576441E-4	0.134
18	34233298	T	A	18	36653335	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.26112976686895E-4	0.168
18	34233298	T	C	18	36653335	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.72766647072891E-4	0.176
18	34233298	T	G	18	36653335	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.72766647072891E-4	0.176
18	34233299	T	A	18	36653336	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0521433773771011	0.232
18	34233299	T	C	18	36653336	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0529518552706372	0.206
18	34233299	T	G	18	36653336	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0529518552706372	0.206
18	34233300	G	A	18	36653337	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.29109490741563E-4	0.036
18	34233300	G	C	18	36653337	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.29109490741563E-4	0.016
18	34233300	G	T	18	36653337	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.29109490741563E-4	0.04
18	34233301	A	C	18	36653338	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00218710983469158	0.232
18	34233301	A	G	18	36653338	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00218710983469158	0.23
18	34233301	A	T	18	36653338	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00218710983469158	0.24
18	34233302	C	A	18	36653339	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0285447283204133	0.284
18	34233302	C	G	18	36653339	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0285447283204133	0.284
18	34233302	C	T	18	36653339	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0285447283204133	0.282
18	34233303	A	C	18	36653340	y	y	splicing	FHOD3(NM_001281740:exon13:c.1647-2A>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1647-2A>C)	.	.	2.22139344671334E-4	0.19
18	34233303	A	G	18	36653340	y	y	splicing	FHOD3(NM_001281740:exon13:c.1647-2A>G)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1647-2A>G)	.	.	2.22139344671334E-4	0.19
18	34233303	A	T	18	36653340	y	y	splicing	FHOD3(NM_001281740:exon13:c.1647-2A>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1647-2A>T)	.	.	2.22139344671334E-4	0.214
18	34233304	G	A	18	36653341	y	y	splicing	FHOD3(NM_001281740:exon13:c.1647-1G>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1647-1G>A)	.	.	0.0253819983853895	0.274
18	34233304	G	C	18	36653341	y	y	splicing	FHOD3(NM_001281740:exon13:c.1647-1G>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1647-1G>C)	.	.	0.0253819983853895	0.282
18	34233304	G	T	18	36653341	y	y	splicing	FHOD3(NM_001281740:exon13:c.1647-1G>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1647-1G>T)	.	.	0.0253819983853895	0.28
18	34233305	T	A	18	36653342	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.T1647A:p.S549R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1647A:p.S549R;	0.0170468609028757	0.238
18	34233305	T	C	18	36653342	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_001281740:exon13:c.T1647C:p.S549S;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1647C:p.S549S;	0.0170468609028757	0.24
18	34233305	T	G	18	36653342	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.T1647G:p.S549R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1647G:p.S549R;	0.0170468609028757	0.24
18	34233306	T	A	18	36653343	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.T1648A:p.S550T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1648A:p.S550T;	1.01141764576441E-4	0.126
18	34233306	T	C	18	36653343	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.T1648C:p.S550P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1648C:p.S550P;	1.01141764576441E-4	0.174
18	34233306	T	G	18	36653343	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.T1648G:p.S550A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1648G:p.S550A;	1.01141764576441E-4	0.174
18	34233377	T	A	18	36653414	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.T1719A:p.N573K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1719A:p.N573K;	7.64193449560172E-5	0.088
18	34233377	T	C	18	36653414	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_001281740:exon13:c.T1719C:p.N573N;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1719C:p.N573N;	5.88449364534328E-5	0.098
18	34233377	T	G	18	36653414	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.T1719G:p.N573K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.T1719G:p.N573K;	5.88449364534328E-5	0.098
18	34233378	A	C	18	36653415	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_001281740:exon13:c.A1720C:p.R574R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.A1720C:p.R574R;	0.831787510444029	0.762
18	34233378	A	G	18	36653415	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.A1720G:p.R574G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.A1720G:p.R574G;	0.831787510444029	0.764
18	34233378	A	T	18	36653415	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_001281740:exon13:c.A1720T:p.R574X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000590592:exon13:c.A1720T:p.R574X;	0.831787510444029	0.758
18	34233379	G	A	18	36653416	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.G1721A:p.R574K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.G1721A:p.R574K;	0.458426510072237	0.584
18	34233379	G	C	18	36653416	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.G1721C:p.R574T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.G1721C:p.R574T;	0.522376005284329	0.564
18	34233379	G	T	18	36653416	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon13:c.G1721T:p.R574I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon13:c.G1721T:p.R574I;	0.522376005284329	0.582
18	34233380	G	A	18	36653417	y	y	splicing	FHOD3(NM_001281740:exon13:c.1721+1G>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1721+1G>A)	.	.	0.522376005284329	0.59
18	34233380	G	C	18	36653417	y	y	splicing	FHOD3(NM_001281740:exon13:c.1721+1G>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1721+1G>C)	.	.	0.522376005284329	0.566
18	34233380	G	T	18	36653417	y	y	splicing	FHOD3(NM_001281740:exon13:c.1721+1G>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1721+1G>T)	.	.	0.522376005284329	0.578
18	34233381	T	A	18	36653418	y	y	splicing	FHOD3(NM_001281740:exon13:c.1721+2T>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1721+2T>A)	.	.	0.831787510444029	0.758
18	34233381	T	C	18	36653418	y	y	splicing	FHOD3(NM_001281740:exon13:c.1721+2T>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1721+2T>C)	.	.	0.831787510444029	0.764
18	34233381	T	G	18	36653418	y	y	splicing	FHOD3(NM_001281740:exon13:c.1721+2T>G)	.	.	splicing	ENSG00000134775(ENST00000590592:exon13:c.1721+2T>G)	.	.	0.831787510444029	0.764
18	34233382	G	A	18	36653419	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0180276748266459	0.218
18	34233382	G	C	18	36653419	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0180806011847457	0.228
18	34233382	G	T	18	36653419	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0180276748266459	0.214
18	34233383	G	A	18	36653420	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.991423892014245	0.926
18	34233383	G	C	18	36653420	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.993349593042562	0.928
18	34233383	G	T	18	36653420	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.993349593042562	0.93
18	34233384	G	A	18	36653421	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.993349593042562	0.928
18	34233384	G	C	18	36653421	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.994029703713196	0.91
18	34233384	G	T	18	36653421	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.993349593042562	0.924
18	34233385	T	A	18	36653422	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0529518552706372	0.22
18	34233385	T	C	18	36653422	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0529518552706372	0.204
18	34233385	T	G	18	36653422	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0529518552706372	0.204
18	34233386	G	A	18	36653423	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00651552362009929	0.106
18	34233386	G	C	18	36653423	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00651552362009929	0.102
18	34233386	G	T	18	36653423	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00651552362009929	0.134
18	34233387	T	A	18	36653424	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00701936712456089	0.052
18	34233387	T	C	18	36653424	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00439645863166891	0.076
18	34233387	T	G	18	36653424	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00480893379514971	0.09
18	34238026	T	A	18	36658063	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999971697615857	0.976
18	34238026	T	C	18	36658063	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0047952817030544	0.134
18	34238026	T	G	18	36658063	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998276257269347	0.882
18	34238027	G	A	18	36658064	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.15228789998793	0.348
18	34238027	G	C	18	36658064	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.183895433934278	0.494
18	34238027	G	T	18	36658064	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.210321616670967	0.508
18	34238028	C	A	18	36658065	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0011482668070446	0.124
18	34238028	C	G	18	36658065	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00120931382869257	0.094
18	34238028	C	T	18	36658065	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.22102263878056E-4	0.166
18	34238029	A	C	18	36658066	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.09909257921335E-4	0.18
18	34238029	A	G	18	36658066	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.81909091019741E-5	0.104
18	34238029	A	T	18	36658066	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.77437036326306E-5	0.228
18	34238030	C	A	18	36658067	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0289283026153254	0.142
18	34238030	C	G	18	36658067	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999941988355806	0.98
18	34238030	C	T	18	36658067	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.47465073705885E-5	0.006
18	34238031	T	A	18	36658068	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0904085749378182	0.364
18	34238031	T	C	18	36658068	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.52532473195478E-5	0.018
18	34238031	T	G	18	36658068	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0692399685709939	0.404
18	34238032	T	A	18	36658069	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.449068109406128	0.56
18	34238032	T	C	18	36658069	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.64857656700684E-6	0.028
18	34238032	T	G	18	36658069	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.547690955031568	0.552
18	34238033	C	A	18	36658070	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0485368699903602	0.182
18	34238033	C	G	18	36658070	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0991391328962414	0.224
18	34238033	C	T	18	36658070	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.25939559117861E-5	0.0
18	34238034	T	A	18	36658071	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0120984116001171	0.128
18	34238034	T	C	18	36658071	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00431860436375562	0.074
18	34238034	T	G	18	36658071	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00839617268624067	0.066
18	34238035	T	A	18	36658072	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0397753707921864	0.374
18	34238035	T	C	18	36658072	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.83842220723476E-5	0.042
18	34238035	T	G	18	36658072	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.983218452312831	0.68
18	34238036	A	C	18	36658073	y	y	splicing	FHOD3(NM_025135:exon11:c.1197-2A>C;NM_001281740:exon14:c.1722-2A>C;NM_001281739:exon11:c.1197-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1197-2A>C;ENST00000359247:exon11:c.1197-2A>C;ENST00000590592:exon14:c.1722-2A>C;ENST00000591635:exon7:c.221-2A>C)	.	.	0.999988247793601	0.93
18	34238036	A	G	18	36658073	y	y	splicing	FHOD3(NM_025135:exon11:c.1197-2A>G;NM_001281740:exon14:c.1722-2A>G;NM_001281739:exon11:c.1197-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1197-2A>G;ENST00000359247:exon11:c.1197-2A>G;ENST00000590592:exon14:c.1722-2A>G;ENST00000591635:exon7:c.221-2A>G)	.	.	0.999988247793601	0.93
18	34238036	A	T	18	36658073	y	y	splicing	FHOD3(NM_025135:exon11:c.1197-2A>T;NM_001281740:exon14:c.1722-2A>T;NM_001281739:exon11:c.1197-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1197-2A>T;ENST00000359247:exon11:c.1197-2A>T;ENST00000590592:exon14:c.1722-2A>T;ENST00000591635:exon7:c.221-2A>T)	.	.	0.999988247793601	0.93
18	34238037	G	A	18	36658074	y	y	splicing	FHOD3(NM_025135:exon11:c.1197-1G>A;NM_001281740:exon14:c.1722-1G>A;NM_001281739:exon11:c.1197-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1197-1G>A;ENST00000359247:exon11:c.1197-1G>A;ENST00000590592:exon14:c.1722-1G>A;ENST00000591635:exon7:c.221-1G>A)	.	.	0.999989072007339	0.934
18	34238037	G	C	18	36658074	y	y	splicing	FHOD3(NM_025135:exon11:c.1197-1G>C;NM_001281740:exon14:c.1722-1G>C;NM_001281739:exon11:c.1197-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1197-1G>C;ENST00000359247:exon11:c.1197-1G>C;ENST00000590592:exon14:c.1722-1G>C;ENST00000591635:exon7:c.221-1G>C)	.	.	0.999989072007339	0.934
18	34238037	G	T	18	36658074	y	y	splicing	FHOD3(NM_025135:exon11:c.1197-1G>T;NM_001281740:exon14:c.1722-1G>T;NM_001281739:exon11:c.1197-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1197-1G>T;ENST00000359247:exon11:c.1197-1G>T;ENST00000590592:exon14:c.1722-1G>T;ENST00000591635:exon7:c.221-1G>T)	.	.	0.999989072007339	0.934
18	34238038	A	C	18	36658075	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.A1197C:p.K399N;FHOD3:NM_001281740:exon14:c.A1722C:p.R574S;FHOD3:NM_001281739:exon11:c.A1197C:p.K399N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.A1197C:p.K399N;ENSG00000134775:ENST00000257209:exon11:c.A1197C:p.K399N;ENSG00000134775:ENST00000591635:exon7:c.A221C:p.N74T;ENSG00000134775:ENST00000590592:exon14:c.A1722C:p.R574S;	0.0350466170663037	0.184
18	34238038	A	G	18	36658075	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon11:c.A1197G:p.K399K;FHOD3:NM_001281740:exon14:c.A1722G:p.R574R;FHOD3:NM_001281739:exon11:c.A1197G:p.K399K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000591635:exon7:c.A221G:p.N74S;	3.87988287077684E-4	0.0
18	34238038	A	T	18	36658075	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.A1197T:p.K399N;FHOD3:NM_001281740:exon14:c.A1722T:p.R574S;FHOD3:NM_001281739:exon11:c.A1197T:p.K399N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.A1197T:p.K399N;ENSG00000134775:ENST00000257209:exon11:c.A1197T:p.K399N;ENSG00000134775:ENST00000591635:exon7:c.A221T:p.N74I;ENSG00000134775:ENST00000590592:exon14:c.A1722T:p.R574S;	0.0114687022587705	0.172
18	34238039	T	A	18	36658076	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.T1198A:p.Y400N;FHOD3:NM_001281740:exon14:c.T1723A:p.Y575N;FHOD3:NM_001281739:exon11:c.T1198A:p.Y400N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.T1198A:p.Y400N;ENSG00000134775:ENST00000257209:exon11:c.T1198A:p.Y400N;ENSG00000134775:ENST00000591635:exon7:c.T222A:p.N74K;ENSG00000134775:ENST00000590592:exon14:c.T1723A:p.Y575N;	0.470747510586275	0.334
18	34238039	T	C	18	36658076	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.T1198C:p.Y400H;FHOD3:NM_001281740:exon14:c.T1723C:p.Y575H;FHOD3:NM_001281739:exon11:c.T1198C:p.Y400H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.T1198C:p.Y400H;ENSG00000134775:ENST00000257209:exon11:c.T1198C:p.Y400H;ENSG00000134775:ENST00000590592:exon14:c.T1723C:p.Y575H;	0.437061366119517	0.342
18	34238039	T	G	18	36658076	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.T1198G:p.Y400D;FHOD3:NM_001281740:exon14:c.T1723G:p.Y575D;FHOD3:NM_001281739:exon11:c.T1198G:p.Y400D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.T1198G:p.Y400D;ENSG00000134775:ENST00000257209:exon11:c.T1198G:p.Y400D;ENSG00000134775:ENST00000591635:exon7:c.T222G:p.N74K;ENSG00000134775:ENST00000590592:exon14:c.T1723G:p.Y575D;	0.551355643776513	0.278
18	34238149	A	C	18	36658186	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.A1308C:p.E436D;FHOD3:NM_001281740:exon14:c.A1833C:p.E611D;FHOD3:NM_001281739:exon11:c.A1308C:p.E436D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.A1308C:p.E436D;ENSG00000134775:ENST00000257209:exon11:c.A1308C:p.E436D;ENSG00000134775:ENST00000590592:exon14:c.A1833C:p.E611D;	1.40850398780761E-4	0.0
18	34238149	A	G	18	36658186	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon11:c.A1308G:p.E436E;FHOD3:NM_001281740:exon14:c.A1833G:p.E611E;FHOD3:NM_001281739:exon11:c.A1308G:p.E436E;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.A1308G:p.E436E;ENSG00000134775:ENST00000257209:exon11:c.A1308G:p.E436E;ENSG00000134775:ENST00000590592:exon14:c.A1833G:p.E611E;	1.25774815981416E-4	0.004
18	34238149	A	T	18	36658186	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.A1308T:p.E436D;FHOD3:NM_001281740:exon14:c.A1833T:p.E611D;FHOD3:NM_001281739:exon11:c.A1308T:p.E436D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.A1308T:p.E436D;ENSG00000134775:ENST00000257209:exon11:c.A1308T:p.E436D;ENSG00000134775:ENST00000590592:exon14:c.A1833T:p.E611D;	0.00157576272382013	0.172
18	34238150	A	C	18	36658187	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon11:c.A1309C:p.R437R;FHOD3:NM_001281740:exon14:c.A1834C:p.R612R;FHOD3:NM_001281739:exon11:c.A1309C:p.R437R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.A1309C:p.R437R;ENSG00000134775:ENST00000257209:exon11:c.A1309C:p.R437R;ENSG00000134775:ENST00000590592:exon14:c.A1834C:p.R612R;	0.534538520948071	0.596
18	34238150	A	G	18	36658187	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.A1309G:p.R437G;FHOD3:NM_001281740:exon14:c.A1834G:p.R612G;FHOD3:NM_001281739:exon11:c.A1309G:p.R437G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.A1309G:p.R437G;ENSG00000134775:ENST00000257209:exon11:c.A1309G:p.R437G;ENSG00000134775:ENST00000590592:exon14:c.A1834G:p.R612G;	0.988732089449198	0.924
18	34238150	A	T	18	36658187	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.A1309T:p.R437W;FHOD3:NM_001281740:exon14:c.A1834T:p.R612W;FHOD3:NM_001281739:exon11:c.A1309T:p.R437W;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.A1309T:p.R437W;ENSG00000134775:ENST00000257209:exon11:c.A1309T:p.R437W;ENSG00000134775:ENST00000590592:exon14:c.A1834T:p.R612W;	0.985000914904434	0.646
18	34238151	G	A	18	36658188	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.G1310A:p.R437K;FHOD3:NM_001281740:exon14:c.G1835A:p.R612K;FHOD3:NM_001281739:exon11:c.G1310A:p.R437K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.G1310A:p.R437K;ENSG00000134775:ENST00000257209:exon11:c.G1310A:p.R437K;ENSG00000134775:ENST00000590592:exon14:c.G1835A:p.R612K;	0.99868220782172	0.858
18	34238151	G	C	18	36658188	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.G1310C:p.R437T;FHOD3:NM_001281740:exon14:c.G1835C:p.R612T;FHOD3:NM_001281739:exon11:c.G1310C:p.R437T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.G1310C:p.R437T;ENSG00000134775:ENST00000257209:exon11:c.G1310C:p.R437T;ENSG00000134775:ENST00000590592:exon14:c.G1835C:p.R612T;	0.998832662673995	0.892
18	34238151	G	T	18	36658188	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon11:c.G1310T:p.R437M;FHOD3:NM_001281740:exon14:c.G1835T:p.R612M;FHOD3:NM_001281739:exon11:c.G1310T:p.R437M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon11:c.G1310T:p.R437M;ENSG00000134775:ENST00000257209:exon11:c.G1310T:p.R437M;ENSG00000134775:ENST00000590592:exon14:c.G1835T:p.R612M;	0.999016391655409	0.916
18	34238152	G	A	18	36658189	y	y	splicing	FHOD3(NM_025135:exon11:c.1310+1G>A;NM_001281740:exon14:c.1835+1G>A;NM_001281739:exon11:c.1310+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1310+1G>A;ENST00000359247:exon11:c.1310+1G>A;ENST00000590592:exon14:c.1835+1G>A)	.	.	0.999986675681007	0.94
18	34238152	G	C	18	36658189	y	y	splicing	FHOD3(NM_025135:exon11:c.1310+1G>C;NM_001281740:exon14:c.1835+1G>C;NM_001281739:exon11:c.1310+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1310+1G>C;ENST00000359247:exon11:c.1310+1G>C;ENST00000590592:exon14:c.1835+1G>C)	.	.	0.999986675681007	0.938
18	34238152	G	T	18	36658189	y	y	splicing	FHOD3(NM_025135:exon11:c.1310+1G>T;NM_001281740:exon14:c.1835+1G>T;NM_001281739:exon11:c.1310+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1310+1G>T;ENST00000359247:exon11:c.1310+1G>T;ENST00000590592:exon14:c.1835+1G>T)	.	.	0.999986675681007	0.938
18	34238153	T	A	18	36658190	y	y	splicing	FHOD3(NM_025135:exon11:c.1310+2T>A;NM_001281740:exon14:c.1835+2T>A;NM_001281739:exon11:c.1310+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1310+2T>A;ENST00000359247:exon11:c.1310+2T>A;ENST00000590592:exon14:c.1835+2T>A)	.	.	0.999989917668626	0.926
18	34238153	T	C	18	36658190	y	y	splicing	FHOD3(NM_025135:exon11:c.1310+2T>C;NM_001281740:exon14:c.1835+2T>C;NM_001281739:exon11:c.1310+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1310+2T>C;ENST00000359247:exon11:c.1310+2T>C;ENST00000590592:exon14:c.1835+2T>C)	.	.	0.999927254940125	0.854
18	34238153	T	G	18	36658190	y	y	splicing	FHOD3(NM_025135:exon11:c.1310+2T>G;NM_001281740:exon14:c.1835+2T>G;NM_001281739:exon11:c.1310+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon11:c.1310+2T>G;ENST00000359247:exon11:c.1310+2T>G;ENST00000590592:exon14:c.1835+2T>G)	.	.	0.999989917668626	0.926
18	34238154	G	A	18	36658191	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.55532661790437E-5	0.006
18	34238154	G	C	18	36658191	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0213352157811889	0.262
18	34238154	G	T	18	36658191	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.017143350932835	0.22
18	34238155	A	C	18	36658192	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0596039659410713	0.224
18	34238155	A	G	18	36658192	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.563166085636965	0.408
18	34238155	A	T	18	36658192	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.559035841855333	0.358
18	34238156	G	A	18	36658193	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.995762330449424	0.936
18	34238156	G	C	18	36658193	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999110618457189	0.84
18	34238156	G	T	18	36658193	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998958902884372	0.92
18	34238157	T	A	18	36658194	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.107695589640521	0.112
18	34238157	T	C	18	36658194	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.010468430382957	0.128
18	34238157	T	G	18	36658194	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00299093579529003	0.106
18	34238158	T	A	18	36658195	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.24236979434921E-5	0.0
18	34238158	T	C	18	36658195	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.24236979434921E-5	0.0
18	34238158	T	G	18	36658195	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.24236979434921E-5	0.002
18	34238159	C	A	18	36658196	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.55472960422104E-5	0.0
18	34238159	C	G	18	36658196	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.71096986172561E-5	0.01
18	34238159	C	T	18	36658196	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.55472960422104E-5	0.0
18	34261387	T	A	18	36681424	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.081651107967519	0.286
18	34261387	T	C	18	36681424	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.23691953350072E-4	0.044
18	34261387	T	G	18	36681424	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998734411813845	0.932
18	34261388	T	A	18	36681425	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999939031454953	0.962
18	34261388	T	C	18	36681425	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0116451067357834	0.152
18	34261388	T	G	18	36681425	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.61897958239163	0.468
18	34261389	G	A	18	36681426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.81958194517947E-4	0.088
18	34261389	G	C	18	36681426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.96652464860673E-5	0.002
18	34261389	G	T	18	36681426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.02675584885726E-5	0.03
18	34261390	T	A	18	36681427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.58139417207342	0.524
18	34261390	T	C	18	36681427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0179840522576105	0.126
18	34261390	T	G	18	36681427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.602645048479183	0.534
18	34261391	A	C	18	36681428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.1090815199934E-5	0.0
18	34261391	A	G	18	36681428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.658318015934E-5	0.0
18	34261391	A	T	18	36681428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.99230262669968E-5	0.0
18	34261392	T	A	18	36681429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.203673954889909	0.334
18	34261392	T	C	18	36681429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.75720779383145E-4	0.022
18	34261392	T	G	18	36681429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999834602320723	0.996
18	34261393	C	A	18	36681430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0112819516624449	0.278
18	34261393	C	G	18	36681430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0162610791087992	0.3
18	34261393	C	T	18	36681430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.47710294347516E-4	0.02
18	34261394	T	A	18	36681431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.433026237267191	0.488
18	34261394	T	C	18	36681431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00209485655398741	0.084
18	34261394	T	G	18	36681431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.257548132385517	0.444
18	34261395	C	A	18	36681432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.98261349683876E-5	0.002
18	34261395	C	G	18	36681432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.13811812458009E-4	0.0
18	34261395	C	T	18	36681432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.98261349683876E-5	0.004
18	34261396	C	A	18	36681433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.480971807649994	0.502
18	34261396	C	G	18	36681433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999203224209844	0.896
18	34261396	C	T	18	36681433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.02449183462897E-4	0.026
18	34261397	A	C	18	36681434	y	y	splicing	FHOD3(NM_025135:exon12:c.1311-2A>C;NM_001281740:exon15:c.1836-2A>C;NM_001281739:exon12:c.1311-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1311-2A>C;ENST00000445677:exon11:c.1197-2A>C;ENST00000359247:exon12:c.1311-2A>C;ENST00000590592:exon15:c.1836-2A>C;ENST00000592930:exon5:c.592-2A>C)	.	.	0.999989917668626	0.914
18	34261397	A	G	18	36681434	y	y	splicing	FHOD3(NM_025135:exon12:c.1311-2A>G;NM_001281740:exon15:c.1836-2A>G;NM_001281739:exon12:c.1311-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1311-2A>G;ENST00000445677:exon11:c.1197-2A>G;ENST00000359247:exon12:c.1311-2A>G;ENST00000590592:exon15:c.1836-2A>G;ENST00000592930:exon5:c.592-2A>G)	.	.	0.999989917668626	0.914
18	34261397	A	T	18	36681434	y	y	splicing	FHOD3(NM_025135:exon12:c.1311-2A>T;NM_001281740:exon15:c.1836-2A>T;NM_001281739:exon12:c.1311-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1311-2A>T;ENST00000445677:exon11:c.1197-2A>T;ENST00000359247:exon12:c.1311-2A>T;ENST00000590592:exon15:c.1836-2A>T;ENST00000592930:exon5:c.592-2A>T)	.	.	0.999989917668626	0.914
18	34261398	G	A	18	36681435	y	y	splicing	FHOD3(NM_025135:exon12:c.1311-1G>A;NM_001281740:exon15:c.1836-1G>A;NM_001281739:exon12:c.1311-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1311-1G>A;ENST00000445677:exon11:c.1197-1G>A;ENST00000359247:exon12:c.1311-1G>A;ENST00000590592:exon15:c.1836-1G>A;ENST00000592930:exon5:c.592-1G>A)	.	.	0.999981760802075	0.932
18	34261398	G	C	18	36681435	y	y	splicing	FHOD3(NM_025135:exon12:c.1311-1G>C;NM_001281740:exon15:c.1836-1G>C;NM_001281739:exon12:c.1311-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1311-1G>C;ENST00000445677:exon11:c.1197-1G>C;ENST00000359247:exon12:c.1311-1G>C;ENST00000590592:exon15:c.1836-1G>C;ENST00000592930:exon5:c.592-1G>C)	.	.	0.999981760802075	0.934
18	34261398	G	T	18	36681435	y	y	splicing	FHOD3(NM_025135:exon12:c.1311-1G>T;NM_001281740:exon15:c.1836-1G>T;NM_001281739:exon12:c.1311-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1311-1G>T;ENST00000445677:exon11:c.1197-1G>T;ENST00000359247:exon12:c.1311-1G>T;ENST00000590592:exon15:c.1836-1G>T;ENST00000592930:exon5:c.592-1G>T)	.	.	0.999981760802075	0.906
18	34261399	G	A	18	36681436	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon12:c.G1311A:p.R437R;FHOD3:NM_001281740:exon15:c.G1836A:p.R612R;FHOD3:NM_001281739:exon12:c.G1311A:p.R437R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.G1311A:p.R437R;ENSG00000134775:ENST00000257209:exon12:c.G1311A:p.R437R;ENSG00000134775:ENST00000590592:exon15:c.G1836A:p.R612R;ENSG00000134775:ENST00000445677:exon11:c.G1197A:p.K399K;	0.0501065442088418	0.296
18	34261399	G	C	18	36681436	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.G1311C:p.R437S;FHOD3:NM_001281740:exon15:c.G1836C:p.R612S;FHOD3:NM_001281739:exon12:c.G1311C:p.R437S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.G1311C:p.R437S;ENSG00000134775:ENST00000257209:exon12:c.G1311C:p.R437S;ENSG00000134775:ENST00000590592:exon15:c.G1836C:p.R612S;ENSG00000134775:ENST00000445677:exon11:c.G1197C:p.K399N;	0.261813374748985	0.554
18	34261399	G	T	18	36681436	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.G1311T:p.R437S;FHOD3:NM_001281740:exon15:c.G1836T:p.R612S;FHOD3:NM_001281739:exon12:c.G1311T:p.R437S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.G1311T:p.R437S;ENSG00000134775:ENST00000257209:exon12:c.G1311T:p.R437S;ENSG00000134775:ENST00000590592:exon15:c.G1836T:p.R612S;ENSG00000134775:ENST00000445677:exon11:c.G1197T:p.K399N;	0.649689460243345	0.542
18	34261400	T	A	18	36681437	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.T1312A:p.S438T;FHOD3:NM_001281740:exon15:c.T1837A:p.S613T;FHOD3:NM_001281739:exon12:c.T1312A:p.S438T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.T1312A:p.S438T;ENSG00000134775:ENST00000257209:exon12:c.T1312A:p.S438T;ENSG00000134775:ENST00000590592:exon15:c.T1837A:p.S613T;ENSG00000134775:ENST00000445677:exon11:c.T1198A:p.S400T;	0.0278980233360837	0.18
18	34261400	T	C	18	36681437	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.T1312C:p.S438P;FHOD3:NM_001281740:exon15:c.T1837C:p.S613P;FHOD3:NM_001281739:exon12:c.T1312C:p.S438P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.T1312C:p.S438P;ENSG00000134775:ENST00000257209:exon12:c.T1312C:p.S438P;ENSG00000134775:ENST00000590592:exon15:c.T1837C:p.S613P;ENSG00000134775:ENST00000445677:exon11:c.T1198C:p.S400P;	0.0127379184736959	0.17
18	34261400	T	G	18	36681437	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.T1312G:p.S438A;FHOD3:NM_001281740:exon15:c.T1837G:p.S613A;FHOD3:NM_001281739:exon12:c.T1312G:p.S438A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.T1312G:p.S438A;ENSG00000134775:ENST00000257209:exon12:c.T1312G:p.S438A;ENSG00000134775:ENST00000590592:exon15:c.T1837G:p.S613A;ENSG00000134775:ENST00000445677:exon11:c.T1198G:p.S400A;	0.125757402160772	0.314
18	34261531	C	A	18	36681568	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.C1443A:p.F481L;FHOD3:NM_001281740:exon15:c.C1968A:p.F656L;FHOD3:NM_001281739:exon12:c.C1443A:p.F481L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.C1443A:p.F481L;ENSG00000134775:ENST00000257209:exon12:c.C1443A:p.F481L;ENSG00000134775:ENST00000590592:exon15:c.C1968A:p.F656L;ENSG00000134775:ENST00000445677:exon11:c.C1329A:p.F443L;	0.910381260494872	0.78
18	34261531	C	G	18	36681568	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.C1443G:p.F481L;FHOD3:NM_001281740:exon15:c.C1968G:p.F656L;FHOD3:NM_001281739:exon12:c.C1443G:p.F481L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.C1443G:p.F481L;ENSG00000134775:ENST00000257209:exon12:c.C1443G:p.F481L;ENSG00000134775:ENST00000590592:exon15:c.C1968G:p.F656L;ENSG00000134775:ENST00000445677:exon11:c.C1329G:p.F443L;	0.853323651026563	0.616
18	34261531	C	T	18	36681568	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon12:c.C1443T:p.F481F;FHOD3:NM_001281740:exon15:c.C1968T:p.F656F;FHOD3:NM_001281739:exon12:c.C1443T:p.F481F;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.C1443T:p.F481F;ENSG00000134775:ENST00000257209:exon12:c.C1443T:p.F481F;ENSG00000134775:ENST00000590592:exon15:c.C1968T:p.F656F;ENSG00000134775:ENST00000445677:exon11:c.C1329T:p.F443F;	0.975965375093131	0.526
18	34261532	A	C	18	36681569	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.A1444C:p.S482R;FHOD3:NM_001281740:exon15:c.A1969C:p.S657R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon12:c.A1444C:p.S482R;ENSG00000134775:ENST00000590592:exon15:c.A1969C:p.S657R;ENSG00000134775:ENST00000445677:exon11:c.A1330C:p.S444R;	0.260906050517976	0.44
18	34261532	A	G	18	36681569	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.A1444G:p.S482G;FHOD3:NM_001281740:exon15:c.A1969G:p.S657G;FHOD3:NM_001281739:exon12:c.A1444G:p.R482G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.A1444G:p.R482G;ENSG00000134775:ENST00000257209:exon12:c.A1444G:p.S482G;ENSG00000134775:ENST00000590592:exon15:c.A1969G:p.S657G;ENSG00000134775:ENST00000445677:exon11:c.A1330G:p.S444G;	0.475513291019997	0.408
18	34261532	A	T	18	36681569	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_001281739:exon12:c.A1444T:p.R482X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon12:c.A1444T:p.R482X;	0.993903894464868	0.6
18	34261533	G	A	18	36681570	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.G1445A:p.S482N;FHOD3:NM_001281740:exon15:c.G1970A:p.S657N;FHOD3:NM_001281739:exon12:c.G1445A:p.R482K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.G1445A:p.R482K;ENSG00000134775:ENST00000257209:exon12:c.G1445A:p.S482N;ENSG00000134775:ENST00000590592:exon15:c.G1970A:p.S657N;ENSG00000134775:ENST00000445677:exon11:c.G1331A:p.S444N;	0.310722207894206	0.618
18	34261533	G	C	18	36681570	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.G1445C:p.S482T;FHOD3:NM_001281740:exon15:c.G1970C:p.S657T;FHOD3:NM_001281739:exon12:c.G1445C:p.R482T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.G1445C:p.R482T;ENSG00000134775:ENST00000257209:exon12:c.G1445C:p.S482T;ENSG00000134775:ENST00000590592:exon15:c.G1970C:p.S657T;ENSG00000134775:ENST00000445677:exon11:c.G1331C:p.S444T;	0.926003643664247	0.628
18	34261533	G	T	18	36681570	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon12:c.G1445T:p.S482I;FHOD3:NM_001281740:exon15:c.G1970T:p.S657I;FHOD3:NM_001281739:exon12:c.G1445T:p.R482I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon12:c.G1445T:p.R482I;ENSG00000134775:ENST00000257209:exon12:c.G1445T:p.S482I;ENSG00000134775:ENST00000590592:exon15:c.G1970T:p.S657I;ENSG00000134775:ENST00000445677:exon11:c.G1331T:p.S444I;	0.951474773629098	0.65
18	34261534	G	A	18	36681571	y	y	splicing	FHOD3(NM_025135:exon12:c.1445+1G>A;NM_001281740:exon15:c.1970+1G>A;NM_001281739:exon12:c.1445+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1445+1G>A;ENST00000445677:exon11:c.1331+1G>A;ENST00000359247:exon12:c.1445+1G>A;ENST00000590592:exon15:c.1970+1G>A;ENST00000592930:exon5:c.726+1G>A)	.	.	0.999985532734767	0.936
18	34261534	G	C	18	36681571	y	y	splicing	FHOD3(NM_025135:exon12:c.1445+1G>C;NM_001281740:exon15:c.1970+1G>C;NM_001281739:exon12:c.1445+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1445+1G>C;ENST00000445677:exon11:c.1331+1G>C;ENST00000359247:exon12:c.1445+1G>C;ENST00000590592:exon15:c.1970+1G>C;ENST00000592930:exon5:c.726+1G>C)	.	.	0.999985532734767	0.936
18	34261534	G	T	18	36681571	y	y	splicing	FHOD3(NM_025135:exon12:c.1445+1G>T;NM_001281740:exon15:c.1970+1G>T;NM_001281739:exon12:c.1445+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1445+1G>T;ENST00000445677:exon11:c.1331+1G>T;ENST00000359247:exon12:c.1445+1G>T;ENST00000590592:exon15:c.1970+1G>T;ENST00000592930:exon5:c.726+1G>T)	.	.	0.999985532734767	0.936
18	34261535	T	A	18	36681572	y	y	splicing	FHOD3(NM_025135:exon12:c.1445+2T>A;NM_001281740:exon15:c.1970+2T>A;NM_001281739:exon12:c.1445+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1445+2T>A;ENST00000445677:exon11:c.1331+2T>A;ENST00000359247:exon12:c.1445+2T>A;ENST00000590592:exon15:c.1970+2T>A;ENST00000592930:exon5:c.726+2T>A)	.	.	0.999988247793601	0.928
18	34261535	T	C	18	36681572	y	y	splicing	FHOD3(NM_025135:exon12:c.1445+2T>C;NM_001281740:exon15:c.1970+2T>C;NM_001281739:exon12:c.1445+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1445+2T>C;ENST00000445677:exon11:c.1331+2T>C;ENST00000359247:exon12:c.1445+2T>C;ENST00000590592:exon15:c.1970+2T>C;ENST00000592930:exon5:c.726+2T>C)	.	.	0.99340600729494	0.646
18	34261535	T	G	18	36681572	y	y	splicing	FHOD3(NM_025135:exon12:c.1445+2T>G;NM_001281740:exon15:c.1970+2T>G;NM_001281739:exon12:c.1445+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon12:c.1445+2T>G;ENST00000445677:exon11:c.1331+2T>G;ENST00000359247:exon12:c.1445+2T>G;ENST00000590592:exon15:c.1970+2T>G;ENST00000592930:exon5:c.726+2T>G)	.	.	0.999988247793601	0.928
18	34261536	A	C	18	36681573	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.877273316602756	0.682
18	34261536	A	G	18	36681573	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0190940651414867	0.168
18	34261536	A	T	18	36681573	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.886978822340983	0.616
18	34261537	A	C	18	36681574	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.40760733877734	0.538
18	34261537	A	G	18	36681574	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.590641481735716	0.412
18	34261537	A	T	18	36681574	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.735376205989496	0.586
18	34261538	G	A	18	36681575	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.935004980363308	0.664
18	34261538	G	C	18	36681575	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.913494736170076	0.598
18	34261538	G	T	18	36681575	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.965222754913939	0.572
18	34261539	A	C	18	36681576	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.12993222469334E-5	0.012
18	34261539	A	G	18	36681576	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.12117436499371E-5	0.0
18	34261539	A	T	18	36681576	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.59299244381415E-5	0.034
18	34261540	A	C	18	36681577	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.46844991217429E-5	0.0
18	34261540	A	G	18	36681577	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.46552627156223E-5	0.0
18	34261540	A	T	18	36681577	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.46552627156223E-5	0.0
18	34261541	G	A	18	36681578	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.30945796578933E-5	0.002
18	34261541	G	C	18	36681578	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.30945796578933E-5	0.0
18	34261541	G	T	18	36681578	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.30945796578933E-5	0.0
18	34267079	T	A	18	36687116	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.129428541177654	0.508
18	34267079	T	C	18	36687116	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.66331147792849E-4	0.076
18	34267079	T	G	18	36687116	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997935902419762	0.906
18	34267080	A	C	18	36687117	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.74920580299903E-4	0.036
18	34267080	A	G	18	36687117	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.06558388229594E-5	0.042
18	34267080	A	T	18	36687117	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.92187056636749E-4	0.112
18	34267081	T	A	18	36687118	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.994844531108659	0.768
18	34267081	T	C	18	36687118	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.26403600818237E-4	0.202
18	34267081	T	G	18	36687118	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999865203804433	0.92
18	34267082	T	A	18	36687119	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.941783796620813	0.7
18	34267082	T	C	18	36687119	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.27132444018934E-4	0.222
18	34267082	T	G	18	36687119	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.77620325401079	0.616
18	34267083	T	A	18	36687120	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.911785172920742	0.744
18	34267083	T	C	18	36687120	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.50484599356583E-4	0.112
18	34267083	T	G	18	36687120	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.981650411538696	0.774
18	34267084	C	A	18	36687121	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0942208982988091	0.312
18	34267084	C	G	18	36687121	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.141954884857823	0.416
18	34267084	C	T	18	36687121	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.71946508902867E-4	0.116
18	34267085	C	A	18	36687122	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0047663127579246	0.332
18	34267085	C	G	18	36687122	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.205187540905859	0.44
18	34267085	C	T	18	36687122	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.91009296173813E-5	0.112
18	34267086	A	C	18	36687123	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.38104424727813E-4	0.054
18	34267086	A	G	18	36687123	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.53573308493627E-4	0.044
18	34267086	A	T	18	36687123	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.33185576811638E-4	0.096
18	34267087	T	A	18	36687124	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.63744601834577E-4	0.102
18	34267087	T	C	18	36687124	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.11445733590799E-4	0.066
18	34267087	T	G	18	36687124	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.932403171869869	0.668
18	34267088	T	A	18	36687125	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.265164235798575	0.422
18	34267088	T	C	18	36687125	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.52515302249188E-4	0.058
18	34267088	T	G	18	36687125	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.825779545063698	0.586
18	34267089	A	C	18	36687126	y	y	splicing	FHOD3(NM_025135:exon13:c.1446-2A>C;NM_001281740:exon16:c.1971-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1446-2A>C;ENST00000445677:exon12:c.1332-2A>C;ENST00000590592:exon16:c.1971-2A>C;ENST00000592930:exon6:c.727-2A>C)	.	.	0.999926102992308	0.916
18	34267089	A	G	18	36687126	y	y	splicing	FHOD3(NM_025135:exon13:c.1446-2A>G;NM_001281740:exon16:c.1971-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1446-2A>G;ENST00000445677:exon12:c.1332-2A>G;ENST00000590592:exon16:c.1971-2A>G;ENST00000592930:exon6:c.727-2A>G)	.	.	0.999926102992308	0.916
18	34267089	A	T	18	36687126	y	y	splicing	FHOD3(NM_025135:exon13:c.1446-2A>T;NM_001281740:exon16:c.1971-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1446-2A>T;ENST00000445677:exon12:c.1332-2A>T;ENST00000590592:exon16:c.1971-2A>T;ENST00000592930:exon6:c.727-2A>T)	.	.	0.999926102992308	0.916
18	34267090	G	A	18	36687127	y	y	splicing	FHOD3(NM_025135:exon13:c.1446-1G>A;NM_001281740:exon16:c.1971-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1446-1G>A;ENST00000445677:exon12:c.1332-1G>A;ENST00000590592:exon16:c.1971-1G>A;ENST00000592930:exon6:c.727-1G>A)	.	.	0.999983315092066	0.91
18	34267090	G	C	18	36687127	y	y	splicing	FHOD3(NM_025135:exon13:c.1446-1G>C;NM_001281740:exon16:c.1971-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1446-1G>C;ENST00000445677:exon12:c.1332-1G>C;ENST00000590592:exon16:c.1971-1G>C;ENST00000592930:exon6:c.727-1G>C)	.	.	0.999983315092066	0.91
18	34267090	G	T	18	36687127	y	y	splicing	FHOD3(NM_025135:exon13:c.1446-1G>T;NM_001281740:exon16:c.1971-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1446-1G>T;ENST00000445677:exon12:c.1332-1G>T;ENST00000590592:exon16:c.1971-1G>T;ENST00000592930:exon6:c.727-1G>T)	.	.	0.999983315092066	0.91
18	34267091	C	A	18	36687128	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.C1446A:p.S482R;FHOD3:NM_001281740:exon16:c.C1971A:p.S657R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.C1446A:p.S482R;ENSG00000134775:ENST00000590592:exon16:c.C1971A:p.S657R;ENSG00000134775:ENST00000445677:exon12:c.C1332A:p.S444R;	0.00250040194139786	0.074
18	34267091	C	G	18	36687128	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.C1446G:p.S482R;FHOD3:NM_001281740:exon16:c.C1971G:p.S657R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.C1446G:p.S482R;ENSG00000134775:ENST00000590592:exon16:c.C1971G:p.S657R;ENSG00000134775:ENST00000445677:exon12:c.C1332G:p.S444R;	0.00421500474919015	0.138
18	34267091	C	T	18	36687128	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon13:c.C1446T:p.S482S;FHOD3:NM_001281740:exon16:c.C1971T:p.S657S;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.C1446T:p.S482S;ENSG00000134775:ENST00000590592:exon16:c.C1971T:p.S657S;ENSG00000134775:ENST00000445677:exon12:c.C1332T:p.S444S;	0.152991349767355	0.324
18	34267092	C	A	18	36687129	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon13:c.C1447A:p.R483R;FHOD3:NM_001281740:exon16:c.C1972A:p.R658R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.C1447A:p.R483R;ENSG00000134775:ENST00000590592:exon16:c.C1972A:p.R658R;ENSG00000134775:ENST00000445677:exon12:c.C1333A:p.R445R;	0.980913249129323	0.618
18	34267092	C	G	18	36687129	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.C1447G:p.R483G;FHOD3:NM_001281740:exon16:c.C1972G:p.R658G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.C1447G:p.R483G;ENSG00000134775:ENST00000590592:exon16:c.C1972G:p.R658G;ENSG00000134775:ENST00000445677:exon12:c.C1333G:p.R445G;	0.982072251042672	0.852
18	34267092	C	T	18	36687129	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon13:c.C1447T:p.R483X;FHOD3:NM_001281740:exon16:c.C1972T:p.R658X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000257209:exon13:c.C1447T:p.R483X;ENSG00000134775:ENST00000590592:exon16:c.C1972T:p.R658X;ENSG00000134775:ENST00000445677:exon12:c.C1333T:p.R445X;	0.986902499964265	0.876
18	34267139	A	C	18	36687176	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.A1494C:p.E498D;FHOD3:NM_001281740:exon16:c.A2019C:p.E673D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.A1494C:p.E498D;ENSG00000134775:ENST00000590592:exon16:c.A2019C:p.E673D;ENSG00000134775:ENST00000445677:exon12:c.A1380C:p.E460D;	0.745656169890265	0.69
18	34267139	A	G	18	36687176	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon13:c.A1494G:p.E498E;FHOD3:NM_001281740:exon16:c.A2019G:p.E673E;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.A1494G:p.E498E;ENSG00000134775:ENST00000590592:exon16:c.A2019G:p.E673E;ENSG00000134775:ENST00000445677:exon12:c.A1380G:p.E460E;	0.0452338602510237	0.35
18	34267139	A	T	18	36687176	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.A1494T:p.E498D;FHOD3:NM_001281740:exon16:c.A2019T:p.E673D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.A1494T:p.E498D;ENSG00000134775:ENST00000590592:exon16:c.A2019T:p.E673D;ENSG00000134775:ENST00000445677:exon12:c.A1380T:p.E460D;	0.994928907331193	0.804
18	34267140	A	C	18	36687177	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon13:c.A1495C:p.R499R;FHOD3:NM_001281740:exon16:c.A2020C:p.R674R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.A1495C:p.R499R;ENSG00000134775:ENST00000590592:exon16:c.A2020C:p.R674R;ENSG00000134775:ENST00000445677:exon12:c.A1381C:p.R461R;	0.999792206482989	0.992
18	34267140	A	G	18	36687177	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.A1495G:p.R499G;FHOD3:NM_001281740:exon16:c.A2020G:p.R674G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.A1495G:p.R499G;ENSG00000134775:ENST00000590592:exon16:c.A2020G:p.R674G;ENSG00000134775:ENST00000445677:exon12:c.A1381G:p.R461G;	0.999948570518861	0.99
18	34267140	A	T	18	36687177	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon13:c.A1495T:p.R499X;FHOD3:NM_001281740:exon16:c.A2020T:p.R674X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000257209:exon13:c.A1495T:p.R499X;ENSG00000134775:ENST00000590592:exon16:c.A2020T:p.R674X;ENSG00000134775:ENST00000445677:exon12:c.A1381T:p.R461X;	0.999948570518861	0.99
18	34267141	G	A	18	36687178	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.G1496A:p.R499K;FHOD3:NM_001281740:exon16:c.G2021A:p.R674K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.G1496A:p.R499K;ENSG00000134775:ENST00000590592:exon16:c.G2021A:p.R674K;ENSG00000134775:ENST00000445677:exon12:c.G1382A:p.R461K;	0.999992475607196	0.948
18	34267141	G	C	18	36687178	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.G1496C:p.R499T;FHOD3:NM_001281740:exon16:c.G2021C:p.R674T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.G1496C:p.R499T;ENSG00000134775:ENST00000590592:exon16:c.G2021C:p.R674T;ENSG00000134775:ENST00000445677:exon12:c.G1382C:p.R461T;	0.999997668522844	1.0
18	34267141	G	T	18	36687178	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon13:c.G1496T:p.R499I;FHOD3:NM_001281740:exon16:c.G2021T:p.R674I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000257209:exon13:c.G1496T:p.R499I;ENSG00000134775:ENST00000590592:exon16:c.G2021T:p.R674I;ENSG00000134775:ENST00000445677:exon12:c.G1382T:p.R461I;	0.99999006121748	1.0
18	34267142	G	A	18	36687179	y	y	splicing	FHOD3(NM_025135:exon13:c.1496+1G>A;NM_001281740:exon16:c.2021+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1496+1G>A;ENST00000445677:exon12:c.1382+1G>A;ENST00000590592:exon16:c.2021+1G>A;ENST00000592930:exon6:c.777+1G>A)	.	.	0.999985532734767	0.936
18	34267142	G	C	18	36687179	y	y	splicing	FHOD3(NM_025135:exon13:c.1496+1G>C;NM_001281740:exon16:c.2021+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1496+1G>C;ENST00000445677:exon12:c.1382+1G>C;ENST00000590592:exon16:c.2021+1G>C;ENST00000592930:exon6:c.777+1G>C)	.	.	0.999985532734767	0.936
18	34267142	G	T	18	36687179	y	y	splicing	FHOD3(NM_025135:exon13:c.1496+1G>T;NM_001281740:exon16:c.2021+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1496+1G>T;ENST00000445677:exon12:c.1382+1G>T;ENST00000590592:exon16:c.2021+1G>T;ENST00000592930:exon6:c.777+1G>T)	.	.	0.999985532734767	0.936
18	34267143	T	A	18	36687180	y	y	splicing	FHOD3(NM_025135:exon13:c.1496+2T>A;NM_001281740:exon16:c.2021+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1496+2T>A;ENST00000445677:exon12:c.1382+2T>A;ENST00000590592:exon16:c.2021+2T>A;ENST00000592930:exon6:c.777+2T>A)	.	.	0.999988247793601	0.928
18	34267143	T	C	18	36687180	y	y	splicing	FHOD3(NM_025135:exon13:c.1496+2T>C;NM_001281740:exon16:c.2021+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1496+2T>C;ENST00000445677:exon12:c.1382+2T>C;ENST00000590592:exon16:c.2021+2T>C;ENST00000592930:exon6:c.777+2T>C)	.	.	0.99340600729494	0.68
18	34267143	T	G	18	36687180	y	y	splicing	FHOD3(NM_025135:exon13:c.1496+2T>G;NM_001281740:exon16:c.2021+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon13:c.1496+2T>G;ENST00000445677:exon12:c.1382+2T>G;ENST00000590592:exon16:c.2021+2T>G;ENST00000592930:exon6:c.777+2T>G)	.	.	0.999988247793601	0.928
18	34267144	T	A	18	36687181	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.07154859897701E-4	0.086
18	34267144	T	C	18	36687181	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00226148035727731	0.152
18	34267144	T	G	18	36687181	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.98322589680077E-5	0.06
18	34267145	T	A	18	36687182	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.09961144780782E-4	0.066
18	34267145	T	C	18	36687182	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.60678557181614E-4	0.014
18	34267145	T	G	18	36687182	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.96255464154407E-5	0.026
18	34267146	G	A	18	36687183	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999896267433622	0.914
18	34267146	G	C	18	36687183	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999993320979416	0.994
18	34267146	G	T	18	36687183	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999926045852181	0.948
18	34267147	T	A	18	36687184	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.922239215519995	0.558
18	34267147	T	C	18	36687184	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.807521744893478	0.67
18	34267147	T	G	18	36687184	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.435576643052994	0.558
18	34267148	A	C	18	36687185	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.99230049420779E-5	0.0
18	34267148	A	G	18	36687185	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.36815593089081E-4	0.022
18	34267148	A	T	18	36687185	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.7657026882759E-4	0.014
18	34267149	T	A	18	36687186	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.9758609562419E-4	0.036
18	34267149	T	C	18	36687186	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.70578482452954E-5	0.038
18	34267149	T	G	18	36687186	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.32007860434464E-4	0.04
18	34273160	T	A	18	36693197	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.976311837070139	0.8
18	34273160	T	C	18	36693197	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0334637450046098	0.198
18	34273160	T	G	18	36693197	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999930016686708	0.974
18	34273161	T	A	18	36693198	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997730462590981	0.9
18	34273161	T	C	18	36693198	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.700528790719892	0.44
18	34273161	T	G	18	36693198	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.993207594476871	0.882
18	34273162	T	A	18	36693199	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.986178108855489	0.854
18	34273162	T	C	18	36693199	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0651705908159523	0.182
18	34273162	T	G	18	36693199	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.963495545886087	0.814
18	34273163	A	C	18	36693200	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.90349090505258E-5	0.012
18	34273163	A	G	18	36693200	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.24907881941899E-4	0.012
18	34273163	A	T	18	36693200	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.57943490208122E-5	0.032
18	34273164	A	C	18	36693201	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.34847995099984E-4	0.042
18	34273164	A	G	18	36693201	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99607368577355	0.85
18	34273164	A	T	18	36693201	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.2925605738756E-4	0.042
18	34273165	C	A	18	36693202	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0793633944461085	0.38
18	34273165	C	G	18	36693202	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999870861937527	0.968
18	34273165	C	T	18	36693202	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00124981488181651	0.082
18	34273166	T	A	18	36693203	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.98802584598446	0.82
18	34273166	T	C	18	36693203	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0057327921958651	0.112
18	34273166	T	G	18	36693203	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.981205846230059	0.822
18	34273167	T	A	18	36693204	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996249723094396	0.866
18	34273167	T	C	18	36693204	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.156624565236396	0.286
18	34273167	T	G	18	36693204	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.985138398420886	0.79
18	34273168	T	A	18	36693205	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.013867592014354	0.068
18	34273168	T	C	18	36693205	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00309060546079332	0.106
18	34273168	T	G	18	36693205	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0271372356210953	0.068
18	34273169	C	A	18	36693206	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999729861784421	0.898
18	34273169	C	G	18	36693206	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999905523683229	0.89
18	34273169	C	T	18	36693206	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0882995443087683	0.132
18	34273170	A	C	18	36693207	y	y	splicing	FHOD3(NM_025135:exon14:c.1497-2A>C;NM_001281740:exon17:c.2022-2A>C;NM_001281739:exon13:c.1446-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1497-2A>C;ENST00000445677:exon13:c.1383-2A>C;ENST00000359247:exon13:c.1446-2A>C;ENST00000590592:exon17:c.2022-2A>C;ENST00000592930:exon7:c.778-2A>C)	.	.	0.999986741007567	0.942
18	34273170	A	G	18	36693207	y	y	splicing	FHOD3(NM_025135:exon14:c.1497-2A>G;NM_001281740:exon17:c.2022-2A>G;NM_001281739:exon13:c.1446-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1497-2A>G;ENST00000445677:exon13:c.1383-2A>G;ENST00000359247:exon13:c.1446-2A>G;ENST00000590592:exon17:c.2022-2A>G;ENST00000592930:exon7:c.778-2A>G)	.	.	0.999986741007567	0.942
18	34273170	A	T	18	36693207	y	y	splicing	FHOD3(NM_025135:exon14:c.1497-2A>T;NM_001281740:exon17:c.2022-2A>T;NM_001281739:exon13:c.1446-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1497-2A>T;ENST00000445677:exon13:c.1383-2A>T;ENST00000359247:exon13:c.1446-2A>T;ENST00000590592:exon17:c.2022-2A>T;ENST00000592930:exon7:c.778-2A>T)	.	.	0.999986741007567	0.942
18	34273171	G	A	18	36693208	y	y	splicing	FHOD3(NM_025135:exon14:c.1497-1G>A;NM_001281740:exon17:c.2022-1G>A;NM_001281739:exon13:c.1446-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1497-1G>A;ENST00000445677:exon13:c.1383-1G>A;ENST00000359247:exon13:c.1446-1G>A;ENST00000590592:exon17:c.2022-1G>A;ENST00000592930:exon7:c.778-1G>A)	.	.	0.999984967332678	0.938
18	34273171	G	C	18	36693208	y	y	splicing	FHOD3(NM_025135:exon14:c.1497-1G>C;NM_001281740:exon17:c.2022-1G>C;NM_001281739:exon13:c.1446-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1497-1G>C;ENST00000445677:exon13:c.1383-1G>C;ENST00000359247:exon13:c.1446-1G>C;ENST00000590592:exon17:c.2022-1G>C;ENST00000592930:exon7:c.778-1G>C)	.	.	0.999984967332678	0.938
18	34273171	G	T	18	36693208	y	y	splicing	FHOD3(NM_025135:exon14:c.1497-1G>T;NM_001281740:exon17:c.2022-1G>T;NM_001281739:exon13:c.1446-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1497-1G>T;ENST00000445677:exon13:c.1383-1G>T;ENST00000359247:exon13:c.1446-1G>T;ENST00000590592:exon17:c.2022-1G>T;ENST00000592930:exon7:c.778-1G>T)	.	.	0.999984967332678	0.938
18	34273172	A	C	18	36693209	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.A1497C:p.R499S;FHOD3:NM_001281740:exon17:c.A2022C:p.R674S;FHOD3:NM_001281739:exon13:c.A1446C:p.R482S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1446C:p.R482S;ENSG00000134775:ENST00000257209:exon14:c.A1497C:p.R499S;ENSG00000134775:ENST00000590592:exon17:c.A2022C:p.R674S;ENSG00000134775:ENST00000445677:exon13:c.A1383C:p.R461S;	0.712294960284652	0.546
18	34273172	A	G	18	36693209	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon14:c.A1497G:p.R499R;FHOD3:NM_001281740:exon17:c.A2022G:p.R674R;FHOD3:NM_001281739:exon13:c.A1446G:p.R482R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1446G:p.R482R;ENSG00000134775:ENST00000257209:exon14:c.A1497G:p.R499R;ENSG00000134775:ENST00000590592:exon17:c.A2022G:p.R674R;ENSG00000134775:ENST00000445677:exon13:c.A1383G:p.R461R;	0.00102976866540761	0.028
18	34273172	A	T	18	36693209	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.A1497T:p.R499S;FHOD3:NM_001281740:exon17:c.A2022T:p.R674S;FHOD3:NM_001281739:exon13:c.A1446T:p.R482S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1446T:p.R482S;ENSG00000134775:ENST00000257209:exon14:c.A1497T:p.R499S;ENSG00000134775:ENST00000590592:exon17:c.A2022T:p.R674S;ENSG00000134775:ENST00000445677:exon13:c.A1383T:p.R461S;	0.636253604774891	0.528
18	34273173	T	A	18	36693210	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.T1498A:p.Y500N;FHOD3:NM_001281740:exon17:c.T2023A:p.Y675N;FHOD3:NM_001281739:exon13:c.T1447A:p.Y483N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.T1447A:p.Y483N;ENSG00000134775:ENST00000257209:exon14:c.T1498A:p.Y500N;ENSG00000134775:ENST00000590592:exon17:c.T2023A:p.Y675N;ENSG00000134775:ENST00000445677:exon13:c.T1384A:p.Y462N;	0.344936045059335	0.294
18	34273173	T	C	18	36693210	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.T1498C:p.Y500H;FHOD3:NM_001281740:exon17:c.T2023C:p.Y675H;FHOD3:NM_001281739:exon13:c.T1447C:p.Y483H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.T1447C:p.Y483H;ENSG00000134775:ENST00000257209:exon14:c.T1498C:p.Y500H;ENSG00000134775:ENST00000590592:exon17:c.T2023C:p.Y675H;ENSG00000134775:ENST00000445677:exon13:c.T1384C:p.Y462H;	0.357690242568105	0.346
18	34273173	T	G	18	36693210	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.T1498G:p.Y500D;FHOD3:NM_001281740:exon17:c.T2023G:p.Y675D;FHOD3:NM_001281739:exon13:c.T1447G:p.Y483D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.T1447G:p.Y483D;ENSG00000134775:ENST00000257209:exon14:c.T1498G:p.Y500D;ENSG00000134775:ENST00000590592:exon17:c.T2023G:p.Y675D;ENSG00000134775:ENST00000445677:exon13:c.T1384G:p.Y462D;	0.165193701949266	0.316
18	34273384	A	C	18	36693421	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.A1709C:p.Q570P;FHOD3:NM_001281740:exon17:c.A2234C:p.Q745P;FHOD3:NM_001281739:exon13:c.A1658C:p.Q553P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1658C:p.Q553P;ENSG00000134775:ENST00000257209:exon14:c.A1709C:p.Q570P;ENSG00000134775:ENST00000590592:exon17:c.A2234C:p.Q745P;ENSG00000134775:ENST00000445677:exon13:c.A1595C:p.Q532P;	4.41710562004308E-5	0.008
18	34273384	A	G	18	36693421	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.A1709G:p.Q570R;FHOD3:NM_001281740:exon17:c.A2234G:p.Q745R;FHOD3:NM_001281739:exon13:c.A1658G:p.Q553R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1658G:p.Q553R;ENSG00000134775:ENST00000257209:exon14:c.A1709G:p.Q570R;ENSG00000134775:ENST00000590592:exon17:c.A2234G:p.Q745R;ENSG00000134775:ENST00000445677:exon13:c.A1595G:p.Q532R;	1.02840716497482E-4	0.024
18	34273384	A	T	18	36693421	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.A1709T:p.Q570L;FHOD3:NM_001281740:exon17:c.A2234T:p.Q745L;FHOD3:NM_001281739:exon13:c.A1658T:p.Q553L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1658T:p.Q553L;ENSG00000134775:ENST00000257209:exon14:c.A1709T:p.Q570L;ENSG00000134775:ENST00000590592:exon17:c.A2234T:p.Q745L;ENSG00000134775:ENST00000445677:exon13:c.A1595T:p.Q532L;	0.00332536650258639	0.178
18	34273385	A	C	18	36693422	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.A1710C:p.Q570H;FHOD3:NM_001281740:exon17:c.A2235C:p.Q745H;FHOD3:NM_001281739:exon13:c.A1659C:p.Q553H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1659C:p.Q553H;ENSG00000134775:ENST00000257209:exon14:c.A1710C:p.Q570H;ENSG00000134775:ENST00000590592:exon17:c.A2235C:p.Q745H;ENSG00000134775:ENST00000445677:exon13:c.A1596C:p.Q532H;	0.843808955598911	0.698
18	34273385	A	G	18	36693422	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon14:c.A1710G:p.Q570Q;FHOD3:NM_001281740:exon17:c.A2235G:p.Q745Q;FHOD3:NM_001281739:exon13:c.A1659G:p.Q553Q;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1659G:p.Q553Q;ENSG00000134775:ENST00000257209:exon14:c.A1710G:p.Q570Q;ENSG00000134775:ENST00000590592:exon17:c.A2235G:p.Q745Q;ENSG00000134775:ENST00000445677:exon13:c.A1596G:p.Q532Q;	0.134125787913771	0.326
18	34273385	A	T	18	36693422	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.A1710T:p.Q570H;FHOD3:NM_001281740:exon17:c.A2235T:p.Q745H;FHOD3:NM_001281739:exon13:c.A1659T:p.Q553H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.A1659T:p.Q553H;ENSG00000134775:ENST00000257209:exon14:c.A1710T:p.Q570H;ENSG00000134775:ENST00000590592:exon17:c.A2235T:p.Q745H;ENSG00000134775:ENST00000445677:exon13:c.A1596T:p.Q532H;	0.942164682482589	0.7
18	34273386	G	A	18	36693423	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.G1711A:p.A571T;FHOD3:NM_001281740:exon17:c.G2236A:p.A746T;FHOD3:NM_001281739:exon13:c.G1660A:p.A554T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.G1660A:p.A554T;ENSG00000134775:ENST00000257209:exon14:c.G1711A:p.A571T;ENSG00000134775:ENST00000590592:exon17:c.G2236A:p.A746T;ENSG00000134775:ENST00000445677:exon13:c.G1597A:p.A533T;	0.761467264806648	0.378
18	34273386	G	C	18	36693423	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.G1711C:p.A571P;FHOD3:NM_001281740:exon17:c.G2236C:p.A746P;FHOD3:NM_001281739:exon13:c.G1660C:p.A554P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.G1660C:p.A554P;ENSG00000134775:ENST00000257209:exon14:c.G1711C:p.A571P;ENSG00000134775:ENST00000590592:exon17:c.G2236C:p.A746P;ENSG00000134775:ENST00000445677:exon13:c.G1597C:p.A533P;	0.984099564669053	0.582
18	34273386	G	T	18	36693423	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon14:c.G1711T:p.A571S;FHOD3:NM_001281740:exon17:c.G2236T:p.A746S;FHOD3:NM_001281739:exon13:c.G1660T:p.A554S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon13:c.G1660T:p.A554S;ENSG00000134775:ENST00000257209:exon14:c.G1711T:p.A571S;ENSG00000134775:ENST00000590592:exon17:c.G2236T:p.A746S;ENSG00000134775:ENST00000445677:exon13:c.G1597T:p.A533S;	0.925210169753013	0.492
18	34273387	G	A	18	36693424	y	y	splicing	FHOD3(NM_025135:exon14:c.1711+1G>A;NM_001281740:exon17:c.2236+1G>A;NM_001281739:exon13:c.1660+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1711+1G>A;ENST00000445677:exon13:c.1597+1G>A;ENST00000359247:exon13:c.1660+1G>A;ENST00000590592:exon17:c.2236+1G>A;ENST00000592930:exon7:c.992+1G>A)	.	.	0.999934353661137	0.736
18	34273387	G	C	18	36693424	y	y	splicing	FHOD3(NM_025135:exon14:c.1711+1G>C;NM_001281740:exon17:c.2236+1G>C;NM_001281739:exon13:c.1660+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1711+1G>C;ENST00000445677:exon13:c.1597+1G>C;ENST00000359247:exon13:c.1660+1G>C;ENST00000590592:exon17:c.2236+1G>C;ENST00000592930:exon7:c.992+1G>C)	.	.	0.999955305608527	0.736
18	34273387	G	T	18	36693424	y	y	splicing	FHOD3(NM_025135:exon14:c.1711+1G>T;NM_001281740:exon17:c.2236+1G>T;NM_001281739:exon13:c.1660+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1711+1G>T;ENST00000445677:exon13:c.1597+1G>T;ENST00000359247:exon13:c.1660+1G>T;ENST00000590592:exon17:c.2236+1G>T;ENST00000592930:exon7:c.992+1G>T)	.	.	0.999955305608527	0.736
18	34273388	T	A	18	36693425	y	y	splicing	FHOD3(NM_025135:exon14:c.1711+2T>A;NM_001281740:exon17:c.2236+2T>A;NM_001281739:exon13:c.1660+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1711+2T>A;ENST00000445677:exon13:c.1597+2T>A;ENST00000359247:exon13:c.1660+2T>A;ENST00000590592:exon17:c.2236+2T>A;ENST00000592930:exon7:c.992+2T>A)	.	.	0.999969255906173	0.856
18	34273388	T	C	18	36693425	y	y	splicing	FHOD3(NM_025135:exon14:c.1711+2T>C;NM_001281740:exon17:c.2236+2T>C;NM_001281739:exon13:c.1660+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1711+2T>C;ENST00000445677:exon13:c.1597+2T>C;ENST00000359247:exon13:c.1660+2T>C;ENST00000590592:exon17:c.2236+2T>C;ENST00000592930:exon7:c.992+2T>C)	.	.	0.999684059839482	0.796
18	34273388	T	G	18	36693425	y	y	splicing	FHOD3(NM_025135:exon14:c.1711+2T>G;NM_001281740:exon17:c.2236+2T>G;NM_001281739:exon13:c.1660+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon14:c.1711+2T>G;ENST00000445677:exon13:c.1597+2T>G;ENST00000359247:exon13:c.1660+2T>G;ENST00000590592:exon17:c.2236+2T>G;ENST00000592930:exon7:c.992+2T>G)	.	.	0.999969255906173	0.85
18	34273389	G	A	18	36693426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.69595293648355E-5	0.002
18	34273389	G	C	18	36693426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.71620460498237E-4	0.29
18	34273389	G	T	18	36693426	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.39392600344741E-4	0.278
18	34273390	A	C	18	36693427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.256069108757233	0.378
18	34273390	A	G	18	36693427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.225650162391094	0.376
18	34273390	A	T	18	36693427	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.852401788871542	0.444
18	34273391	G	A	18	36693428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996438270366204	0.652
18	34273391	G	C	18	36693428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996705695718254	0.694
18	34273391	G	T	18	36693428	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999231020194901	0.72
18	34273392	T	A	18	36693429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0919417040162081	0.382
18	34273392	T	C	18	36693429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0464495988304163	0.34
18	34273392	T	G	18	36693429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00701056478380739	0.31
18	34273393	A	C	18	36693430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.08245891919028E-5	0.0
18	34273393	A	G	18	36693430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.26894108897283E-5	0.0
18	34273393	A	T	18	36693430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.26894108897283E-5	0.0
18	34273394	C	A	18	36693431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.20695034961553E-5	0.028
18	34273394	C	G	18	36693431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.20695034961553E-5	0.032
18	34273394	C	T	18	36693431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.20695034961553E-5	0.028
18	34289046	T	A	18	36709083	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999987193410612	0.984
18	34289046	T	C	18	36709083	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.613422981495192	0.448
18	34289046	T	G	18	36709083	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99927866472969	0.92
18	34289047	G	A	18	36709084	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00218402348823777	0.214
18	34289047	G	C	18	36709084	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.80534260778005E-4	0.132
18	34289047	G	T	18	36709084	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.15074283336172E-4	0.188
18	34289048	T	A	18	36709085	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999818982177868	0.934
18	34289048	T	C	18	36709085	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.708010698821184	0.53
18	34289048	T	G	18	36709085	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999688797234138	0.936
18	34289049	C	A	18	36709086	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.240021772371554	0.358
18	34289049	C	G	18	36709086	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.105573186247667	0.202
18	34289049	C	T	18	36709086	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0246808194165442	0.31
18	34289050	T	A	18	36709087	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.748881352572225	0.576
18	34289050	T	C	18	36709087	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.76478093137376E-4	0.008
18	34289050	T	G	18	36709087	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.485599811210664	0.548
18	34289051	C	A	18	36709088	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0238026494130787	0.18
18	34289051	C	G	18	36709088	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0173229606001785	0.206
18	34289051	C	T	18	36709088	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.72727216244945E-5	0.008
18	34289052	C	A	18	36709089	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00767526184327275	0.37
18	34289052	C	G	18	36709089	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00974808618363372	0.392
18	34289052	C	T	18	36709089	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.59326723763894E-4	0.004
18	34289053	A	C	18	36709090	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.07130991530854E-4	0.112
18	34289053	A	G	18	36709090	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.51574872445814E-4	0.136
18	34289053	A	T	18	36709090	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.9513578828414E-4	0.036
18	34289054	C	A	18	36709091	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.63058275859359E-5	0.076
18	34289054	C	G	18	36709091	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.856274744003719	0.514
18	34289054	C	T	18	36709091	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.28645709963842E-4	0.066
18	34289055	C	A	18	36709092	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999817800794278	0.952
18	34289055	C	G	18	36709092	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99997468004842	0.99
18	34289055	C	T	18	36709092	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.781567448905204	0.374
18	34289056	A	C	18	36709093	y	y	splicing	FHOD3(NM_025135:exon15:c.1712-2A>C;NM_001281740:exon18:c.2237-2A>C;NM_001281739:exon14:c.1661-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.1712-2A>C;ENST00000445677:exon14:c.1598-2A>C;ENST00000359247:exon14:c.1661-2A>C;ENST00000590592:exon18:c.2237-2A>C;ENST00000592930:exon8:c.993-2A>C)	.	.	0.999990764389106	0.946
18	34289056	A	G	18	36709093	y	y	splicing	FHOD3(NM_025135:exon15:c.1712-2A>G;NM_001281740:exon18:c.2237-2A>G;NM_001281739:exon14:c.1661-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.1712-2A>G;ENST00000445677:exon14:c.1598-2A>G;ENST00000359247:exon14:c.1661-2A>G;ENST00000590592:exon18:c.2237-2A>G;ENST00000592930:exon8:c.993-2A>G)	.	.	0.999990764389106	0.946
18	34289056	A	T	18	36709093	y	y	splicing	FHOD3(NM_025135:exon15:c.1712-2A>T;NM_001281740:exon18:c.2237-2A>T;NM_001281739:exon14:c.1661-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.1712-2A>T;ENST00000445677:exon14:c.1598-2A>T;ENST00000359247:exon14:c.1661-2A>T;ENST00000590592:exon18:c.2237-2A>T;ENST00000592930:exon8:c.993-2A>T)	.	.	0.999990764389106	0.946
18	34289057	G	A	18	36709094	y	y	splicing	FHOD3(NM_025135:exon15:c.1712-1G>A;NM_001281740:exon18:c.2237-1G>A;NM_001281739:exon14:c.1661-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.1712-1G>A;ENST00000445677:exon14:c.1598-1G>A;ENST00000359247:exon14:c.1661-1G>A;ENST00000590592:exon18:c.2237-1G>A;ENST00000592930:exon8:c.993-1G>A)	.	.	0.999992425382947	0.944
18	34289057	G	C	18	36709094	y	y	splicing	FHOD3(NM_025135:exon15:c.1712-1G>C;NM_001281740:exon18:c.2237-1G>C;NM_001281739:exon14:c.1661-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.1712-1G>C;ENST00000445677:exon14:c.1598-1G>C;ENST00000359247:exon14:c.1661-1G>C;ENST00000590592:exon18:c.2237-1G>C;ENST00000592930:exon8:c.993-1G>C)	.	.	0.999992425382947	0.944
18	34289057	G	T	18	36709094	y	y	splicing	FHOD3(NM_025135:exon15:c.1712-1G>T;NM_001281740:exon18:c.2237-1G>T;NM_001281739:exon14:c.1661-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.1712-1G>T;ENST00000445677:exon14:c.1598-1G>T;ENST00000359247:exon14:c.1661-1G>T;ENST00000590592:exon18:c.2237-1G>T;ENST00000592930:exon8:c.993-1G>T)	.	.	0.999992425382947	0.944
18	34289058	C	A	18	36709095	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.C1712A:p.A571E;FHOD3:NM_001281740:exon18:c.C2237A:p.A746E;FHOD3:NM_001281739:exon14:c.C1661A:p.A554E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.C1661A:p.A554E;ENSG00000134775:ENST00000257209:exon15:c.C1712A:p.A571E;ENSG00000134775:ENST00000590592:exon18:c.C2237A:p.A746E;ENSG00000134775:ENST00000445677:exon14:c.C1598A:p.A533E;	1.00885236871877E-4	0.012
18	34289058	C	G	18	36709095	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.C1712G:p.A571G;FHOD3:NM_001281740:exon18:c.C2237G:p.A746G;FHOD3:NM_001281739:exon14:c.C1661G:p.A554G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.C1661G:p.A554G;ENSG00000134775:ENST00000257209:exon15:c.C1712G:p.A571G;ENSG00000134775:ENST00000590592:exon18:c.C2237G:p.A746G;ENSG00000134775:ENST00000445677:exon14:c.C1598G:p.A533G;	4.16348263283416E-4	0.13
18	34289058	C	T	18	36709095	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.C1712T:p.A571V;FHOD3:NM_001281740:exon18:c.C2237T:p.A746V;FHOD3:NM_001281739:exon14:c.C1661T:p.A554V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.C1661T:p.A554V;ENSG00000134775:ENST00000257209:exon15:c.C1712T:p.A571V;ENSG00000134775:ENST00000590592:exon18:c.C2237T:p.A746V;ENSG00000134775:ENST00000445677:exon14:c.C1598T:p.A533V;	0.00119629203032917	0.216
18	34289059	A	C	18	36709096	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon15:c.A1713C:p.A571A;FHOD3:NM_001281740:exon18:c.A2238C:p.A746A;FHOD3:NM_001281739:exon14:c.A1662C:p.A554A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.A1662C:p.A554A;ENSG00000134775:ENST00000257209:exon15:c.A1713C:p.A571A;ENSG00000134775:ENST00000590592:exon18:c.A2238C:p.A746A;ENSG00000134775:ENST00000445677:exon14:c.A1599C:p.A533A;	3.17315319665764E-5	0.0
18	34289059	A	G	18	36709096	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon15:c.A1713G:p.A571A;FHOD3:NM_001281740:exon18:c.A2238G:p.A746A;FHOD3:NM_001281739:exon14:c.A1662G:p.A554A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.A1662G:p.A554A;ENSG00000134775:ENST00000257209:exon15:c.A1713G:p.A571A;ENSG00000134775:ENST00000590592:exon18:c.A2238G:p.A746A;ENSG00000134775:ENST00000445677:exon14:c.A1599G:p.A533A;	1.46274165505784E-5	0.012
18	34289059	A	T	18	36709096	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon15:c.A1713T:p.A571A;FHOD3:NM_001281740:exon18:c.A2238T:p.A746A;FHOD3:NM_001281739:exon14:c.A1662T:p.A554A;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.A1662T:p.A554A;ENSG00000134775:ENST00000257209:exon15:c.A1713T:p.A571A;ENSG00000134775:ENST00000590592:exon18:c.A2238T:p.A746A;ENSG00000134775:ENST00000445677:exon14:c.A1599T:p.A533A;	5.32577487881425E-6	0.0
18	34289352	C	A	18	36709389	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.C2006A:p.T669N;FHOD3:NM_001281740:exon18:c.C2531A:p.T844N;FHOD3:NM_001281739:exon14:c.C1955A:p.T652N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.C1955A:p.T652N;ENSG00000134775:ENST00000257209:exon15:c.C2006A:p.T669N;ENSG00000134775:ENST00000590592:exon18:c.C2531A:p.T844N;ENSG00000134775:ENST00000445677:exon14:c.C1892A:p.T631N;	0.0123287636398478	0.178
18	34289352	C	G	18	36709389	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.C2006G:p.T669S;FHOD3:NM_001281740:exon18:c.C2531G:p.T844S;FHOD3:NM_001281739:exon14:c.C1955G:p.T652S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.C1955G:p.T652S;ENSG00000134775:ENST00000257209:exon15:c.C2006G:p.T669S;ENSG00000134775:ENST00000590592:exon18:c.C2531G:p.T844S;ENSG00000134775:ENST00000445677:exon14:c.C1892G:p.T631S;	0.00749238221917819	0.174
18	34289352	C	T	18	36709389	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.C2006T:p.T669I;FHOD3:NM_001281740:exon18:c.C2531T:p.T844I;FHOD3:NM_001281739:exon14:c.C1955T:p.T652I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.C1955T:p.T652I;ENSG00000134775:ENST00000257209:exon15:c.C2006T:p.T669I;ENSG00000134775:ENST00000590592:exon18:c.C2531T:p.T844I;ENSG00000134775:ENST00000445677:exon14:c.C1892T:p.T631I;	0.762360270051108	0.538
18	34289353	T	A	18	36709390	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon15:c.T2007A:p.T669T;FHOD3:NM_001281740:exon18:c.T2532A:p.T844T;FHOD3:NM_001281739:exon14:c.T1956A:p.T652T;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.T1956A:p.T652T;ENSG00000134775:ENST00000257209:exon15:c.T2007A:p.T669T;ENSG00000134775:ENST00000590592:exon18:c.T2532A:p.T844T;ENSG00000134775:ENST00000445677:exon14:c.T1893A:p.T631T;	6.87552221114362E-5	0.09
18	34289353	T	C	18	36709390	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon15:c.T2007C:p.T669T;FHOD3:NM_001281740:exon18:c.T2532C:p.T844T;FHOD3:NM_001281739:exon14:c.T1956C:p.T652T;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.T1956C:p.T652T;ENSG00000134775:ENST00000257209:exon15:c.T2007C:p.T669T;ENSG00000134775:ENST00000590592:exon18:c.T2532C:p.T844T;ENSG00000134775:ENST00000445677:exon14:c.T1893C:p.T631T;	1.95086085613609E-5	0.0
18	34289353	T	G	18	36709390	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon15:c.T2007G:p.T669T;FHOD3:NM_001281740:exon18:c.T2532G:p.T844T;FHOD3:NM_001281739:exon14:c.T1956G:p.T652T;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.T1956G:p.T652T;ENSG00000134775:ENST00000257209:exon15:c.T2007G:p.T669T;ENSG00000134775:ENST00000590592:exon18:c.T2532G:p.T844T;ENSG00000134775:ENST00000445677:exon14:c.T1893G:p.T631T;	2.76759776778566E-5	0.002
18	34289354	G	A	18	36709391	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.G2008A:p.G670S;FHOD3:NM_001281740:exon18:c.G2533A:p.G845S;FHOD3:NM_001281739:exon14:c.G1957A:p.G653S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.G1957A:p.G653S;ENSG00000134775:ENST00000257209:exon15:c.G2008A:p.G670S;ENSG00000134775:ENST00000590592:exon18:c.G2533A:p.G845S;ENSG00000134775:ENST00000445677:exon14:c.G1894A:p.G632S;	0.999994222381975	1.0
18	34289354	G	C	18	36709391	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.G2008C:p.G670R;FHOD3:NM_001281740:exon18:c.G2533C:p.G845R;FHOD3:NM_001281739:exon14:c.G1957C:p.G653R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.G1957C:p.G653R;ENSG00000134775:ENST00000257209:exon15:c.G2008C:p.G670R;ENSG00000134775:ENST00000590592:exon18:c.G2533C:p.G845R;ENSG00000134775:ENST00000445677:exon14:c.G1894C:p.G632R;	0.999996613288403	1.0
18	34289354	G	T	18	36709391	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon15:c.G2008T:p.G670C;FHOD3:NM_001281740:exon18:c.G2533T:p.G845C;FHOD3:NM_001281739:exon14:c.G1957T:p.G653C;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon14:c.G1957T:p.G653C;ENSG00000134775:ENST00000257209:exon15:c.G2008T:p.G670C;ENSG00000134775:ENST00000590592:exon18:c.G2533T:p.G845C;ENSG00000134775:ENST00000445677:exon14:c.G1894T:p.G632C;	0.999993018555097	1.0
18	34289355	G	A	18	36709392	y	y	splicing	FHOD3(NM_025135:exon15:c.2008+1G>A;NM_001281740:exon18:c.2533+1G>A;NM_001281739:exon14:c.1957+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.2008+1G>A;ENST00000445677:exon14:c.1894+1G>A;ENST00000359247:exon14:c.1957+1G>A;ENST00000590592:exon18:c.2533+1G>A;ENST00000592930:exon8:c.1289+1G>A)	.	.	0.999990361384395	0.922
18	34289355	G	C	18	36709392	y	y	splicing	FHOD3(NM_025135:exon15:c.2008+1G>C;NM_001281740:exon18:c.2533+1G>C;NM_001281739:exon14:c.1957+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.2008+1G>C;ENST00000445677:exon14:c.1894+1G>C;ENST00000359247:exon14:c.1957+1G>C;ENST00000590592:exon18:c.2533+1G>C;ENST00000592930:exon8:c.1289+1G>C)	.	.	0.999982737877662	0.92
18	34289355	G	T	18	36709392	y	y	splicing	FHOD3(NM_025135:exon15:c.2008+1G>T;NM_001281740:exon18:c.2533+1G>T;NM_001281739:exon14:c.1957+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.2008+1G>T;ENST00000445677:exon14:c.1894+1G>T;ENST00000359247:exon14:c.1957+1G>T;ENST00000590592:exon18:c.2533+1G>T;ENST00000592930:exon8:c.1289+1G>T)	.	.	0.999990361384395	0.922
18	34289356	T	A	18	36709393	y	y	splicing	FHOD3(NM_025135:exon15:c.2008+2T>A;NM_001281740:exon18:c.2533+2T>A;NM_001281739:exon14:c.1957+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.2008+2T>A;ENST00000445677:exon14:c.1894+2T>A;ENST00000359247:exon14:c.1957+2T>A;ENST00000590592:exon18:c.2533+2T>A;ENST00000592930:exon8:c.1289+2T>A)	.	.	0.99994568797423	0.914
18	34289356	T	C	18	36709393	y	y	splicing	FHOD3(NM_025135:exon15:c.2008+2T>C;NM_001281740:exon18:c.2533+2T>C;NM_001281739:exon14:c.1957+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.2008+2T>C;ENST00000445677:exon14:c.1894+2T>C;ENST00000359247:exon14:c.1957+2T>C;ENST00000590592:exon18:c.2533+2T>C;ENST00000592930:exon8:c.1289+2T>C)	.	.	0.991823161717226	0.744
18	34289356	T	G	18	36709393	y	y	splicing	FHOD3(NM_025135:exon15:c.2008+2T>G;NM_001281740:exon18:c.2533+2T>G;NM_001281739:exon14:c.1957+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon15:c.2008+2T>G;ENST00000445677:exon14:c.1894+2T>G;ENST00000359247:exon14:c.1957+2T>G;ENST00000590592:exon18:c.2533+2T>G;ENST00000592930:exon8:c.1289+2T>G)	.	.	0.99994568797423	0.916
18	34289357	A	C	18	36709394	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999820524928436	0.924
18	34289357	A	G	18	36709394	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.9955645373862	0.676
18	34289357	A	T	18	36709394	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999816844723726	0.928
18	34289358	A	C	18	36709395	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.945469087122473	0.704
18	34289358	A	G	18	36709395	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.98735681185371	0.85
18	34289358	A	T	18	36709395	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.988427696196745	0.8
18	34289359	A	C	18	36709396	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00108994406357451	0.048
18	34289359	A	G	18	36709396	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.62151613971268E-4	0.036
18	34289359	A	T	18	36709396	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.15099965647314E-4	0.016
18	34289360	T	A	18	36709397	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0411581955896619	0.32
18	34289360	T	C	18	36709397	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.150943503377766	0.406
18	34289360	T	G	18	36709397	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00547825020101728	0.296
18	34289361	G	A	18	36709398	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.88537590398771E-5	0.004
18	34289361	G	C	18	36709398	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.88537590398771E-5	0.002
18	34289361	G	T	18	36709398	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.16696599440582E-4	0.072
18	34289362	A	C	18	36709399	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.49391435648947E-4	0.016
18	34289362	A	G	18	36709399	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00465656682802528	0.126
18	34289362	A	T	18	36709399	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.62781247235122E-4	0.006
18	34297783	A	C	18	36717820	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.35176480286442E-5	0.0
18	34297783	A	G	18	36717820	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.43647878391142E-4	0.012
18	34297783	A	T	18	36717820	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.35176480286442E-5	0.008
18	34297784	T	A	18	36717821	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999837610043814	0.966
18	34297784	T	C	18	36717821	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0113701018213283	0.066
18	34297784	T	G	18	36717821	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999860582180844	0.966
18	34297785	G	A	18	36717822	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.44563807500335E-5	0.004
18	34297785	G	C	18	36717822	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.18101770628721E-5	0.0
18	34297785	G	T	18	36717822	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.18101770628721E-5	0.006
18	34297786	T	A	18	36717823	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0121059375864473	0.214
18	34297786	T	C	18	36717823	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.32580307794797E-4	0.018
18	34297786	T	G	18	36717823	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0290924427902137	0.238
18	34297787	A	C	18	36717824	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.8560482070587E-5	0.004
18	34297787	A	G	18	36717824	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.61972261286381E-5	0.002
18	34297787	A	T	18	36717824	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.8560482070587E-5	0.004
18	34297788	C	A	18	36717825	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0167913824293826	0.152
18	34297788	C	G	18	36717825	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999320864869197	0.95
18	34297788	C	T	18	36717825	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.07775609793446E-5	0.006
18	34297789	T	A	18	36717826	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0663530026112526	0.324
18	34297789	T	C	18	36717826	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.38716017780885E-5	0.066
18	34297789	T	G	18	36717826	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.229405124139237	0.458
18	34297790	T	A	18	36717827	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.648452252751678	0.526
18	34297790	T	C	18	36717827	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0118530195170442	0.144
18	34297790	T	G	18	36717827	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.626039259601972	0.556
18	34297791	T	A	18	36717828	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.35009854744018E-5	0.002
18	34297791	T	C	18	36717828	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.44647424582604E-4	0.004
18	34297791	T	G	18	36717828	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.45903543206146E-4	0.026
18	34297792	C	A	18	36717829	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.22912875992036	0.442
18	34297792	C	G	18	36717829	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997172782142049	0.928
18	34297792	C	T	18	36717829	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00664628747311643	0.086
18	34297793	A	C	18	36717830	y	y	splicing	FHOD3(NM_025135:exon16:c.2009-2A>C;NM_001281740:exon19:c.2534-2A>C;NM_001281739:exon15:c.1958-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2009-2A>C;ENST00000445677:exon15:c.1895-2A>C;ENST00000359247:exon15:c.1958-2A>C;ENST00000590592:exon19:c.2534-2A>C;ENST00000592930:exon9:c.1290-2A>C)	.	.	0.999993519952936	0.926
18	34297793	A	G	18	36717830	y	y	splicing	FHOD3(NM_025135:exon16:c.2009-2A>G;NM_001281740:exon19:c.2534-2A>G;NM_001281739:exon15:c.1958-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2009-2A>G;ENST00000445677:exon15:c.1895-2A>G;ENST00000359247:exon15:c.1958-2A>G;ENST00000590592:exon19:c.2534-2A>G;ENST00000592930:exon9:c.1290-2A>G)	.	.	0.999993519952936	0.926
18	34297793	A	T	18	36717830	y	y	splicing	FHOD3(NM_025135:exon16:c.2009-2A>T;NM_001281740:exon19:c.2534-2A>T;NM_001281739:exon15:c.1958-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2009-2A>T;ENST00000445677:exon15:c.1895-2A>T;ENST00000359247:exon15:c.1958-2A>T;ENST00000590592:exon19:c.2534-2A>T;ENST00000592930:exon9:c.1290-2A>T)	.	.	0.999993519952936	0.926
18	34297794	G	A	18	36717831	y	y	splicing	FHOD3(NM_025135:exon16:c.2009-1G>A;NM_001281740:exon19:c.2534-1G>A;NM_001281739:exon15:c.1958-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2009-1G>A;ENST00000445677:exon15:c.1895-1G>A;ENST00000359247:exon15:c.1958-1G>A;ENST00000590592:exon19:c.2534-1G>A;ENST00000592930:exon9:c.1290-1G>A)	.	.	0.999988247793601	0.934
18	34297794	G	C	18	36717831	y	y	splicing	FHOD3(NM_025135:exon16:c.2009-1G>C;NM_001281740:exon19:c.2534-1G>C;NM_001281739:exon15:c.1958-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2009-1G>C;ENST00000445677:exon15:c.1895-1G>C;ENST00000359247:exon15:c.1958-1G>C;ENST00000590592:exon19:c.2534-1G>C;ENST00000592930:exon9:c.1290-1G>C)	.	.	0.999988247793601	0.932
18	34297794	G	T	18	36717831	y	y	splicing	FHOD3(NM_025135:exon16:c.2009-1G>T;NM_001281740:exon19:c.2534-1G>T;NM_001281739:exon15:c.1958-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2009-1G>T;ENST00000445677:exon15:c.1895-1G>T;ENST00000359247:exon15:c.1958-1G>T;ENST00000590592:exon19:c.2534-1G>T;ENST00000592930:exon9:c.1290-1G>T)	.	.	0.999988247793601	0.92
18	34297795	G	A	18	36717832	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.G2009A:p.G670D;FHOD3:NM_001281740:exon19:c.G2534A:p.G845D;FHOD3:NM_001281739:exon15:c.G1958A:p.G653D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.G1958A:p.G653D;ENSG00000134775:ENST00000257209:exon16:c.G2009A:p.G670D;ENSG00000134775:ENST00000590592:exon19:c.G2534A:p.G845D;ENSG00000134775:ENST00000445677:exon15:c.G1895A:p.G632D;	0.38968754966837	0.428
18	34297795	G	C	18	36717832	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.G2009C:p.G670A;FHOD3:NM_001281740:exon19:c.G2534C:p.G845A;FHOD3:NM_001281739:exon15:c.G1958C:p.G653A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.G1958C:p.G653A;ENSG00000134775:ENST00000257209:exon16:c.G2009C:p.G670A;ENSG00000134775:ENST00000590592:exon19:c.G2534C:p.G845A;ENSG00000134775:ENST00000445677:exon15:c.G1895C:p.G632A;	0.941327626465174	0.806
18	34297795	G	T	18	36717832	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.G2009T:p.G670V;FHOD3:NM_001281740:exon19:c.G2534T:p.G845V;FHOD3:NM_001281739:exon15:c.G1958T:p.G653V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.G1958T:p.G653V;ENSG00000134775:ENST00000257209:exon16:c.G2009T:p.G670V;ENSG00000134775:ENST00000590592:exon19:c.G2534T:p.G845V;ENSG00000134775:ENST00000445677:exon15:c.G1895T:p.G632V;	0.914669887394243	0.846
18	34297796	T	A	18	36717833	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon16:c.T2010A:p.G670G;FHOD3:NM_001281740:exon19:c.T2535A:p.G845G;FHOD3:NM_001281739:exon15:c.T1959A:p.G653G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.T1959A:p.G653G;ENSG00000134775:ENST00000257209:exon16:c.T2010A:p.G670G;ENSG00000134775:ENST00000590592:exon19:c.T2535A:p.G845G;ENSG00000134775:ENST00000445677:exon15:c.T1896A:p.G632G;	0.00103861362382135	0.02
18	34297796	T	C	18	36717833	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon16:c.T2010C:p.G670G;FHOD3:NM_001281740:exon19:c.T2535C:p.G845G;FHOD3:NM_001281739:exon15:c.T1959C:p.G653G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.T1959C:p.G653G;ENSG00000134775:ENST00000257209:exon16:c.T2010C:p.G670G;ENSG00000134775:ENST00000590592:exon19:c.T2535C:p.G845G;ENSG00000134775:ENST00000445677:exon15:c.T1896C:p.G632G;	0.00134866873802155	0.194
18	34297796	T	G	18	36717833	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon16:c.T2010G:p.G670G;FHOD3:NM_001281740:exon19:c.T2535G:p.G845G;FHOD3:NM_001281739:exon15:c.T1959G:p.G653G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.T1959G:p.G653G;ENSG00000134775:ENST00000257209:exon16:c.T2010G:p.G670G;ENSG00000134775:ENST00000590592:exon19:c.T2535G:p.G845G;ENSG00000134775:ENST00000445677:exon15:c.T1896G:p.G632G;	0.00184316934151004	0.15
18	34298676	A	C	18	36718713	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.A2890C:p.K964Q;FHOD3:NM_001281740:exon19:c.A3415C:p.K1139Q;FHOD3:NM_001281739:exon15:c.A2839C:p.K947Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.A2839C:p.K947Q;ENSG00000134775:ENST00000257209:exon16:c.A2890C:p.K964Q;ENSG00000134775:ENST00000591635:exon8:c.A478C:p.K160Q;ENSG00000134775:ENST00000590592:exon19:c.A3415C:p.K1139Q;ENSG00000134775:ENST00000445677:exon15:c.A2776C:p.K926Q;	0.651356001265613	0.624
18	34298676	A	G	18	36718713	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.A2890G:p.K964E;FHOD3:NM_001281740:exon19:c.A3415G:p.K1139E;FHOD3:NM_001281739:exon15:c.A2839G:p.K947E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.A2839G:p.K947E;ENSG00000134775:ENST00000257209:exon16:c.A2890G:p.K964E;ENSG00000134775:ENST00000591635:exon8:c.A478G:p.K160E;ENSG00000134775:ENST00000590592:exon19:c.A3415G:p.K1139E;ENSG00000134775:ENST00000445677:exon15:c.A2776G:p.K926E;	0.0526552029349714	0.34
18	34298676	A	T	18	36718713	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon16:c.A2890T:p.K964X;FHOD3:NM_001281740:exon19:c.A3415T:p.K1139X;FHOD3:NM_001281739:exon15:c.A2839T:p.K947X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon15:c.A2839T:p.K947X;ENSG00000134775:ENST00000257209:exon16:c.A2890T:p.K964X;ENSG00000134775:ENST00000591635:exon8:c.A478T:p.K160X;ENSG00000134775:ENST00000590592:exon19:c.A3415T:p.K1139X;ENSG00000134775:ENST00000445677:exon15:c.A2776T:p.K926X;	0.989744103299525	0.84
18	34298677	A	C	18	36718714	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.A2891C:p.K964T;FHOD3:NM_001281740:exon19:c.A3416C:p.K1139T;FHOD3:NM_001281739:exon15:c.A2840C:p.K947T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.A2840C:p.K947T;ENSG00000134775:ENST00000257209:exon16:c.A2891C:p.K964T;ENSG00000134775:ENST00000591635:exon8:c.A479C:p.K160T;ENSG00000134775:ENST00000590592:exon19:c.A3416C:p.K1139T;ENSG00000134775:ENST00000445677:exon15:c.A2777C:p.K926T;	0.999881918699639	0.998
18	34298677	A	G	18	36718714	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.A2891G:p.K964R;FHOD3:NM_001281740:exon19:c.A3416G:p.K1139R;FHOD3:NM_001281739:exon15:c.A2840G:p.K947R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.A2840G:p.K947R;ENSG00000134775:ENST00000257209:exon16:c.A2891G:p.K964R;ENSG00000134775:ENST00000591635:exon8:c.A479G:p.K160R;ENSG00000134775:ENST00000590592:exon19:c.A3416G:p.K1139R;ENSG00000134775:ENST00000445677:exon15:c.A2777G:p.K926R;	0.999869938766457	1.0
18	34298677	A	T	18	36718714	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.A2891T:p.K964M;FHOD3:NM_001281740:exon19:c.A3416T:p.K1139M;FHOD3:NM_001281739:exon15:c.A2840T:p.K947M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.A2840T:p.K947M;ENSG00000134775:ENST00000257209:exon16:c.A2891T:p.K964M;ENSG00000134775:ENST00000591635:exon8:c.A479T:p.K160M;ENSG00000134775:ENST00000590592:exon19:c.A3416T:p.K1139M;ENSG00000134775:ENST00000445677:exon15:c.A2777T:p.K926M;	0.999900571942883	1.0
18	34298678	G	A	18	36718715	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon16:c.G2892A:p.K964K;FHOD3:NM_001281740:exon19:c.G3417A:p.K1139K;FHOD3:NM_001281739:exon15:c.G2841A:p.K947K;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.G2841A:p.K947K;ENSG00000134775:ENST00000257209:exon16:c.G2892A:p.K964K;ENSG00000134775:ENST00000591635:exon8:c.G480A:p.K160K;ENSG00000134775:ENST00000590592:exon19:c.G3417A:p.K1139K;ENSG00000134775:ENST00000445677:exon15:c.G2778A:p.K926K;	0.999988280422559	0.98
18	34298678	G	C	18	36718715	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.G2892C:p.K964N;FHOD3:NM_001281740:exon19:c.G3417C:p.K1139N;FHOD3:NM_001281739:exon15:c.G2841C:p.K947N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.G2841C:p.K947N;ENSG00000134775:ENST00000257209:exon16:c.G2892C:p.K964N;ENSG00000134775:ENST00000591635:exon8:c.G480C:p.K160N;ENSG00000134775:ENST00000590592:exon19:c.G3417C:p.K1139N;ENSG00000134775:ENST00000445677:exon15:c.G2778C:p.K926N;	0.99999744614615	0.986
18	34298678	G	T	18	36718715	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon16:c.G2892T:p.K964N;FHOD3:NM_001281740:exon19:c.G3417T:p.K1139N;FHOD3:NM_001281739:exon15:c.G2841T:p.K947N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon15:c.G2841T:p.K947N;ENSG00000134775:ENST00000257209:exon16:c.G2892T:p.K964N;ENSG00000134775:ENST00000591635:exon8:c.G480T:p.K160N;ENSG00000134775:ENST00000590592:exon19:c.G3417T:p.K1139N;ENSG00000134775:ENST00000445677:exon15:c.G2778T:p.K926N;	0.999993635705059	0.942
18	34298679	G	A	18	36718716	y	y	splicing	FHOD3(NM_025135:exon16:c.2892+1G>A;NM_001281740:exon19:c.3417+1G>A;NM_001281739:exon15:c.2841+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2892+1G>A;ENST00000445677:exon15:c.2778+1G>A;ENST00000359247:exon15:c.2841+1G>A;ENST00000590592:exon19:c.3417+1G>A;ENST00000591635:exon8:c.480+1G>A;ENST00000592930:exon9:c.2173+1G>A)	.	.	0.999988568935494	0.924
18	34298679	G	C	18	36718716	y	y	splicing	FHOD3(NM_025135:exon16:c.2892+1G>C;NM_001281740:exon19:c.3417+1G>C;NM_001281739:exon15:c.2841+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2892+1G>C;ENST00000445677:exon15:c.2778+1G>C;ENST00000359247:exon15:c.2841+1G>C;ENST00000590592:exon19:c.3417+1G>C;ENST00000591635:exon8:c.480+1G>C;ENST00000592930:exon9:c.2173+1G>C)	.	.	0.999988568935494	0.924
18	34298679	G	T	18	36718716	y	y	splicing	FHOD3(NM_025135:exon16:c.2892+1G>T;NM_001281740:exon19:c.3417+1G>T;NM_001281739:exon15:c.2841+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2892+1G>T;ENST00000445677:exon15:c.2778+1G>T;ENST00000359247:exon15:c.2841+1G>T;ENST00000590592:exon19:c.3417+1G>T;ENST00000591635:exon8:c.480+1G>T;ENST00000592930:exon9:c.2173+1G>T)	.	.	0.999988568935494	0.924
18	34298680	T	A	18	36718717	y	y	splicing	FHOD3(NM_025135:exon16:c.2892+2T>A;NM_001281740:exon19:c.3417+2T>A;NM_001281739:exon15:c.2841+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2892+2T>A;ENST00000445677:exon15:c.2778+2T>A;ENST00000359247:exon15:c.2841+2T>A;ENST00000590592:exon19:c.3417+2T>A;ENST00000591635:exon8:c.480+2T>A;ENST00000592930:exon9:c.2173+2T>A)	.	.	0.999990155693597	0.926
18	34298680	T	C	18	36718717	y	y	splicing	FHOD3(NM_025135:exon16:c.2892+2T>C;NM_001281740:exon19:c.3417+2T>C;NM_001281739:exon15:c.2841+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2892+2T>C;ENST00000445677:exon15:c.2778+2T>C;ENST00000359247:exon15:c.2841+2T>C;ENST00000590592:exon19:c.3417+2T>C;ENST00000591635:exon8:c.480+2T>C;ENST00000592930:exon9:c.2173+2T>C)	.	.	0.980894216593405	0.568
18	34298680	T	G	18	36718717	y	y	splicing	FHOD3(NM_025135:exon16:c.2892+2T>G;NM_001281740:exon19:c.3417+2T>G;NM_001281739:exon15:c.2841+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon16:c.2892+2T>G;ENST00000445677:exon15:c.2778+2T>G;ENST00000359247:exon15:c.2841+2T>G;ENST00000590592:exon19:c.3417+2T>G;ENST00000591635:exon8:c.480+2T>G;ENST00000592930:exon9:c.2173+2T>G)	.	.	0.999990155693597	0.926
18	34298681	A	C	18	36718718	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999927454418054	0.96
18	34298681	A	G	18	36718718	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.978711115489303	0.822
18	34298681	A	T	18	36718718	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99991292828127	0.972
18	34298682	C	A	18	36718719	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.35944092063946E-4	0.114
18	34298682	C	G	18	36718719	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00414038997458374	0.068
18	34298682	C	T	18	36718719	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00456645068739996	0.098
18	34298683	T	A	18	36718720	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.40821038167905E-4	0.016
18	34298683	T	C	18	36718720	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.41542724852782E-4	0.028
18	34298683	T	G	18	36718720	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.38843067929216E-4	0.068
18	34298684	G	A	18	36718721	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.49514030681931E-4	0.022
18	34298684	G	C	18	36718721	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.23395802708821E-4	0.014
18	34298684	G	T	18	36718721	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.97706287858112E-5	0.014
18	34298685	C	A	18	36718722	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0129855722672137	0.024
18	34298685	C	G	18	36718722	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0068418795741744	0.022
18	34298685	C	T	18	36718722	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00233460004271706	0.026
18	34298686	T	A	18	36718723	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.43342345453993E-4	0.028
18	34298686	T	C	18	36718723	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.68892355232294E-4	0.024
18	34298686	T	G	18	36718723	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.6245837940622E-4	0.0
18	34310597	T	A	18	36730634	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.877523526244381	0.71
18	34310597	T	C	18	36730634	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.71476631947475E-4	0.12
18	34310597	T	G	18	36730634	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0317954662942403	0.474
18	34310598	T	A	18	36730635	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.943547103893329	0.792
18	34310598	T	C	18	36730635	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0144224991156923	0.248
18	34310598	T	G	18	36730635	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.691822100130566	0.682
18	34310599	T	A	18	36730636	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.962451808884886	0.788
18	34310599	T	C	18	36730636	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0375043191098791	0.238
18	34310599	T	G	18	36730636	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.967569918820209	0.792
18	34310600	A	C	18	36730637	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.96571539745803E-4	0.026
18	34310600	A	G	18	36730637	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.74190613072234E-4	0.02
18	34310600	A	T	18	36730637	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.10682143186954E-4	0.032
18	34310601	T	A	18	36730638	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.393419880243195	0.506
18	34310601	T	C	18	36730638	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.83005366446769E-4	0.09
18	34310601	T	G	18	36730638	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999933650356785	0.99
18	34310602	C	A	18	36730639	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0102243437280481	0.196
18	34310602	C	G	18	36730639	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0092092034267324	0.284
18	34310602	C	T	18	36730639	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.59997002090328E-5	0.062
18	34310603	A	C	18	36730640	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.51209940676445E-4	0.04
18	34310603	A	G	18	36730640	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.48523199421055E-4	0.014
18	34310603	A	T	18	36730640	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.06243340441382E-4	0.03
18	34310604	C	A	18	36730641	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00125589389400707	0.104
18	34310604	C	G	18	36730641	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999709518936101	0.962
18	34310604	C	T	18	36730641	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.20733368151377E-5	0.016
18	34310605	T	A	18	36730642	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.62159734796511E-5	0.0
18	34310605	T	C	18	36730642	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.08538431575995E-4	0.042
18	34310605	T	G	18	36730642	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.91633236451161E-4	0.128
18	34310606	A	C	18	36730643	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.38968560144455E-4	0.102
18	34310606	A	G	18	36730643	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.475804506888529	0.38
18	34310606	A	T	18	36730643	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.07087635067487E-4	0.058
18	34310607	A	C	18	36730644	y	y	splicing	FHOD3(NM_025135:exon17:c.2893-2A>C;NM_001281740:exon20:c.3418-2A>C;NM_001281739:exon16:c.2842-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.2893-2A>C;ENST00000445677:exon16:c.2779-2A>C;ENST00000359247:exon16:c.2842-2A>C;ENST00000590592:exon20:c.3418-2A>C;ENST00000591635:exon9:c.481-2A>C;ENST00000592930:exon10:c.2174-2A>C)	.	.	0.999986741007567	0.928
18	34310607	A	G	18	36730644	y	y	splicing	FHOD3(NM_025135:exon17:c.2893-2A>G;NM_001281740:exon20:c.3418-2A>G;NM_001281739:exon16:c.2842-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.2893-2A>G;ENST00000445677:exon16:c.2779-2A>G;ENST00000359247:exon16:c.2842-2A>G;ENST00000590592:exon20:c.3418-2A>G;ENST00000591635:exon9:c.481-2A>G;ENST00000592930:exon10:c.2174-2A>G)	.	.	0.999986741007567	0.928
18	34310607	A	T	18	36730644	y	y	splicing	FHOD3(NM_025135:exon17:c.2893-2A>T;NM_001281740:exon20:c.3418-2A>T;NM_001281739:exon16:c.2842-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.2893-2A>T;ENST00000445677:exon16:c.2779-2A>T;ENST00000359247:exon16:c.2842-2A>T;ENST00000590592:exon20:c.3418-2A>T;ENST00000591635:exon9:c.481-2A>T;ENST00000592930:exon10:c.2174-2A>T)	.	.	0.999986741007567	0.888
18	34310608	G	A	18	36730645	y	y	splicing	FHOD3(NM_025135:exon17:c.2893-1G>A;NM_001281740:exon20:c.3418-1G>A;NM_001281739:exon16:c.2842-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.2893-1G>A;ENST00000445677:exon16:c.2779-1G>A;ENST00000359247:exon16:c.2842-1G>A;ENST00000590592:exon20:c.3418-1G>A;ENST00000591635:exon9:c.481-1G>A;ENST00000592930:exon10:c.2174-1G>A)	.	.	0.999984967332678	0.938
18	34310608	G	C	18	36730645	y	y	splicing	FHOD3(NM_025135:exon17:c.2893-1G>C;NM_001281740:exon20:c.3418-1G>C;NM_001281739:exon16:c.2842-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.2893-1G>C;ENST00000445677:exon16:c.2779-1G>C;ENST00000359247:exon16:c.2842-1G>C;ENST00000590592:exon20:c.3418-1G>C;ENST00000591635:exon9:c.481-1G>C;ENST00000592930:exon10:c.2174-1G>C)	.	.	0.999984967332678	0.938
18	34310608	G	T	18	36730645	y	y	splicing	FHOD3(NM_025135:exon17:c.2893-1G>T;NM_001281740:exon20:c.3418-1G>T;NM_001281739:exon16:c.2842-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.2893-1G>T;ENST00000445677:exon16:c.2779-1G>T;ENST00000359247:exon16:c.2842-1G>T;ENST00000590592:exon20:c.3418-1G>T;ENST00000591635:exon9:c.481-1G>T;ENST00000592930:exon10:c.2174-1G>T)	.	.	0.999984967332678	0.938
18	34310609	A	C	18	36730646	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.A2893C:p.K965Q;FHOD3:NM_001281740:exon20:c.A3418C:p.K1140Q;FHOD3:NM_001281739:exon16:c.A2842C:p.K948Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.A2842C:p.K948Q;ENSG00000134775:ENST00000257209:exon17:c.A2893C:p.K965Q;ENSG00000134775:ENST00000591635:exon9:c.A481C:p.K161Q;ENSG00000134775:ENST00000590592:exon20:c.A3418C:p.K1140Q;ENSG00000134775:ENST00000445677:exon16:c.A2779C:p.K927Q;	0.835680474684097	0.498
18	34310609	A	G	18	36730646	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.A2893G:p.K965E;FHOD3:NM_001281740:exon20:c.A3418G:p.K1140E;FHOD3:NM_001281739:exon16:c.A2842G:p.K948E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.A2842G:p.K948E;ENSG00000134775:ENST00000257209:exon17:c.A2893G:p.K965E;ENSG00000134775:ENST00000591635:exon9:c.A481G:p.K161E;ENSG00000134775:ENST00000590592:exon20:c.A3418G:p.K1140E;ENSG00000134775:ENST00000445677:exon16:c.A2779G:p.K927E;	0.543274277432938	0.646
18	34310609	A	T	18	36730646	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon17:c.A2893T:p.K965X;FHOD3:NM_001281740:exon20:c.A3418T:p.K1140X;FHOD3:NM_001281739:exon16:c.A2842T:p.K948X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon16:c.A2842T:p.K948X;ENSG00000134775:ENST00000257209:exon17:c.A2893T:p.K965X;ENSG00000134775:ENST00000591635:exon9:c.A481T:p.K161X;ENSG00000134775:ENST00000590592:exon20:c.A3418T:p.K1140X;ENSG00000134775:ENST00000445677:exon16:c.A2779T:p.K927X;	0.758502649990209	0.524
18	34310610	A	C	18	36730647	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.A2894C:p.K965T;FHOD3:NM_001281740:exon20:c.A3419C:p.K1140T;FHOD3:NM_001281739:exon16:c.A2843C:p.K948T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.A2843C:p.K948T;ENSG00000134775:ENST00000257209:exon17:c.A2894C:p.K965T;ENSG00000134775:ENST00000591635:exon9:c.A482C:p.K161T;ENSG00000134775:ENST00000590592:exon20:c.A3419C:p.K1140T;ENSG00000134775:ENST00000445677:exon16:c.A2780C:p.K927T;	0.654061705847073	0.712
18	34310610	A	G	18	36730647	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.A2894G:p.K965R;FHOD3:NM_001281740:exon20:c.A3419G:p.K1140R;FHOD3:NM_001281739:exon16:c.A2843G:p.K948R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.A2843G:p.K948R;ENSG00000134775:ENST00000257209:exon17:c.A2894G:p.K965R;ENSG00000134775:ENST00000591635:exon9:c.A482G:p.K161R;ENSG00000134775:ENST00000590592:exon20:c.A3419G:p.K1140R;ENSG00000134775:ENST00000445677:exon16:c.A2780G:p.K927R;	0.674421931594514	0.44
18	34310610	A	T	18	36730647	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.A2894T:p.K965I;FHOD3:NM_001281740:exon20:c.A3419T:p.K1140I;FHOD3:NM_001281739:exon16:c.A2843T:p.K948I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.A2843T:p.K948I;ENSG00000134775:ENST00000257209:exon17:c.A2894T:p.K965I;ENSG00000134775:ENST00000591635:exon9:c.A482T:p.K161I;ENSG00000134775:ENST00000590592:exon20:c.A3419T:p.K1140I;ENSG00000134775:ENST00000445677:exon16:c.A2780T:p.K927I;	0.680823798847684	0.692
18	34310765	G	A	18	36730802	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.G3049A:p.E1017K;FHOD3:NM_001281740:exon20:c.G3574A:p.E1192K;FHOD3:NM_001281739:exon16:c.G2998A:p.E1000K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.G2998A:p.E1000K;ENSG00000134775:ENST00000257209:exon17:c.G3049A:p.E1017K;ENSG00000134775:ENST00000591635:exon9:c.G637A:p.E213K;ENSG00000134775:ENST00000590592:exon20:c.G3574A:p.E1192K;ENSG00000134775:ENST00000445677:exon16:c.G2935A:p.E979K;	0.9698242871012	0.84
18	34310765	G	C	18	36730802	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.G3049C:p.E1017Q;FHOD3:NM_001281740:exon20:c.G3574C:p.E1192Q;FHOD3:NM_001281739:exon16:c.G2998C:p.E1000Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.G2998C:p.E1000Q;ENSG00000134775:ENST00000257209:exon17:c.G3049C:p.E1017Q;ENSG00000134775:ENST00000591635:exon9:c.G637C:p.E213Q;ENSG00000134775:ENST00000590592:exon20:c.G3574C:p.E1192Q;ENSG00000134775:ENST00000445677:exon16:c.G2935C:p.E979Q;	0.96016315069113	0.774
18	34310765	G	T	18	36730802	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon17:c.G3049T:p.E1017X;FHOD3:NM_001281740:exon20:c.G3574T:p.E1192X;FHOD3:NM_001281739:exon16:c.G2998T:p.E1000X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon16:c.G2998T:p.E1000X;ENSG00000134775:ENST00000257209:exon17:c.G3049T:p.E1017X;ENSG00000134775:ENST00000591635:exon9:c.G637T:p.E213X;ENSG00000134775:ENST00000590592:exon20:c.G3574T:p.E1192X;ENSG00000134775:ENST00000445677:exon16:c.G2935T:p.E979X;	0.988335536206018	0.896
18	34310766	A	C	18	36730803	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.A3050C:p.E1017A;FHOD3:NM_001281740:exon20:c.A3575C:p.E1192A;FHOD3:NM_001281739:exon16:c.A2999C:p.E1000A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.A2999C:p.E1000A;ENSG00000134775:ENST00000257209:exon17:c.A3050C:p.E1017A;ENSG00000134775:ENST00000591635:exon9:c.A638C:p.E213A;ENSG00000134775:ENST00000590592:exon20:c.A3575C:p.E1192A;ENSG00000134775:ENST00000445677:exon16:c.A2936C:p.E979A;	0.992639645075621	0.936
18	34310766	A	G	18	36730803	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.A3050G:p.E1017G;FHOD3:NM_001281740:exon20:c.A3575G:p.E1192G;FHOD3:NM_001281739:exon16:c.A2999G:p.E1000G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.A2999G:p.E1000G;ENSG00000134775:ENST00000257209:exon17:c.A3050G:p.E1017G;ENSG00000134775:ENST00000591635:exon9:c.A638G:p.E213G;ENSG00000134775:ENST00000590592:exon20:c.A3575G:p.E1192G;ENSG00000134775:ENST00000445677:exon16:c.A2936G:p.E979G;	0.999827795404787	0.984
18	34310766	A	T	18	36730803	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.A3050T:p.E1017V;FHOD3:NM_001281740:exon20:c.A3575T:p.E1192V;FHOD3:NM_001281739:exon16:c.A2999T:p.E1000V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.A2999T:p.E1000V;ENSG00000134775:ENST00000257209:exon17:c.A3050T:p.E1017V;ENSG00000134775:ENST00000591635:exon9:c.A638T:p.E213V;ENSG00000134775:ENST00000590592:exon20:c.A3575T:p.E1192V;ENSG00000134775:ENST00000445677:exon16:c.A2936T:p.E979V;	0.99966099367068	0.992
18	34310767	G	A	18	36730804	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon17:c.G3051A:p.E1017E;FHOD3:NM_001281740:exon20:c.G3576A:p.E1192E;FHOD3:NM_001281739:exon16:c.G3000A:p.E1000E;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.G3000A:p.E1000E;ENSG00000134775:ENST00000257209:exon17:c.G3051A:p.E1017E;ENSG00000134775:ENST00000591635:exon9:c.G639A:p.E213E;ENSG00000134775:ENST00000590592:exon20:c.G3576A:p.E1192E;ENSG00000134775:ENST00000445677:exon16:c.G2937A:p.E979E;	0.999840109433066	0.972
18	34310767	G	C	18	36730804	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.G3051C:p.E1017D;FHOD3:NM_001281740:exon20:c.G3576C:p.E1192D;FHOD3:NM_001281739:exon16:c.G3000C:p.E1000D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.G3000C:p.E1000D;ENSG00000134775:ENST00000257209:exon17:c.G3051C:p.E1017D;ENSG00000134775:ENST00000591635:exon9:c.G639C:p.E213D;ENSG00000134775:ENST00000590592:exon20:c.G3576C:p.E1192D;ENSG00000134775:ENST00000445677:exon16:c.G2937C:p.E979D;	0.999995119680979	0.968
18	34310767	G	T	18	36730804	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon17:c.G3051T:p.E1017D;FHOD3:NM_001281740:exon20:c.G3576T:p.E1192D;FHOD3:NM_001281739:exon16:c.G3000T:p.E1000D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon16:c.G3000T:p.E1000D;ENSG00000134775:ENST00000257209:exon17:c.G3051T:p.E1017D;ENSG00000134775:ENST00000591635:exon9:c.G639T:p.E213D;ENSG00000134775:ENST00000590592:exon20:c.G3576T:p.E1192D;ENSG00000134775:ENST00000445677:exon16:c.G2937T:p.E979D;	0.999987936048158	0.992
18	34310768	G	A	18	36730805	y	y	splicing	FHOD3(NM_025135:exon17:c.3051+1G>A;NM_001281740:exon20:c.3576+1G>A;NM_001281739:exon16:c.3000+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.3051+1G>A;ENST00000445677:exon16:c.2937+1G>A;ENST00000359247:exon16:c.3000+1G>A;ENST00000590592:exon20:c.3576+1G>A;ENST00000591635:exon9:c.639+1G>A;ENST00000592930:exon10:c.2332+1G>A;ENST00000585579:exon1:c.101+1G>A)	.	.	0.999990361384395	0.938
18	34310768	G	C	18	36730805	y	y	splicing	FHOD3(NM_025135:exon17:c.3051+1G>C;NM_001281740:exon20:c.3576+1G>C;NM_001281739:exon16:c.3000+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.3051+1G>C;ENST00000445677:exon16:c.2937+1G>C;ENST00000359247:exon16:c.3000+1G>C;ENST00000590592:exon20:c.3576+1G>C;ENST00000591635:exon9:c.639+1G>C;ENST00000592930:exon10:c.2332+1G>C;ENST00000585579:exon1:c.101+1G>C)	.	.	0.999990361384395	0.938
18	34310768	G	T	18	36730805	y	y	splicing	FHOD3(NM_025135:exon17:c.3051+1G>T;NM_001281740:exon20:c.3576+1G>T;NM_001281739:exon16:c.3000+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.3051+1G>T;ENST00000445677:exon16:c.2937+1G>T;ENST00000359247:exon16:c.3000+1G>T;ENST00000590592:exon20:c.3576+1G>T;ENST00000591635:exon9:c.639+1G>T;ENST00000592930:exon10:c.2332+1G>T;ENST00000585579:exon1:c.101+1G>T)	.	.	0.999990361384395	0.938
18	34310769	T	A	18	36730806	y	y	splicing	FHOD3(NM_025135:exon17:c.3051+2T>A;NM_001281740:exon20:c.3576+2T>A;NM_001281739:exon16:c.3000+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.3051+2T>A;ENST00000445677:exon16:c.2937+2T>A;ENST00000359247:exon16:c.3000+2T>A;ENST00000590592:exon20:c.3576+2T>A;ENST00000591635:exon9:c.639+2T>A;ENST00000592930:exon10:c.2332+2T>A;ENST00000585579:exon1:c.101+2T>A)	.	.	0.999988247793601	0.932
18	34310769	T	C	18	36730806	y	y	splicing	FHOD3(NM_025135:exon17:c.3051+2T>C;NM_001281740:exon20:c.3576+2T>C;NM_001281739:exon16:c.3000+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.3051+2T>C;ENST00000445677:exon16:c.2937+2T>C;ENST00000359247:exon16:c.3000+2T>C;ENST00000590592:exon20:c.3576+2T>C;ENST00000591635:exon9:c.639+2T>C;ENST00000592930:exon10:c.2332+2T>C;ENST00000585579:exon1:c.101+2T>C)	.	.	0.999929727175276	0.868
18	34310769	T	G	18	36730806	y	y	splicing	FHOD3(NM_025135:exon17:c.3051+2T>G;NM_001281740:exon20:c.3576+2T>G;NM_001281739:exon16:c.3000+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon17:c.3051+2T>G;ENST00000445677:exon16:c.2937+2T>G;ENST00000359247:exon16:c.3000+2T>G;ENST00000590592:exon20:c.3576+2T>G;ENST00000591635:exon9:c.639+2T>G;ENST00000592930:exon10:c.2332+2T>G;ENST00000585579:exon1:c.101+2T>G)	.	.	0.999988247793601	0.932
18	34310770	G	A	18	36730807	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.31412537097348E-5	0.004
18	34310770	G	C	18	36730807	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.566818384085771	0.464
18	34310770	G	T	18	36730807	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.303986983473271	0.388
18	34310771	A	C	18	36730808	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.485021074584905	0.406
18	34310771	A	G	18	36730808	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.927221731651903	0.55
18	34310771	A	T	18	36730808	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.937498631552036	0.536
18	34310772	G	A	18	36730809	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999925223442025	0.91
18	34310772	G	C	18	36730809	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996944330035317	0.602
18	34310772	G	T	18	36730809	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999968456370998	0.854
18	34310773	G	A	18	36730810	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.36176947562652E-5	0.02
18	34310773	G	C	18	36730810	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.70870633776371E-5	0.01
18	34310773	G	T	18	36730810	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.29094831012973E-5	0.0
18	34310774	G	A	18	36730811	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.14595255424627E-5	0.0
18	34310774	G	C	18	36730811	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.14595255424627E-5	0.004
18	34310774	G	T	18	36730811	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.84516004665618E-5	0.0
18	34310775	A	C	18	36730812	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.07014835428848E-5	0.0
18	34310775	A	G	18	36730812	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.08454055578116E-4	0.002
18	34310775	A	T	18	36730812	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.11051055797707E-5	0.002
18	34320607	T	A	18	36740644	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00173622853454987	0.07
18	34320607	T	C	18	36740644	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.13115773713676E-4	0.014
18	34320607	T	G	18	36740644	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00143241885254791	0.054
18	34320608	C	A	18	36740645	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00329369475487644	0.102
18	34320608	C	G	18	36740645	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00161394707048913	0.108
18	34320608	C	T	18	36740645	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.6729367058015E-5	0.0
18	34320609	C	A	18	36740646	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.74489157055905E-4	0.062
18	34320609	C	G	18	36740646	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.06142063327323E-4	0.064
18	34320609	C	T	18	36740646	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.53158979321216E-5	0.018
18	34320610	T	A	18	36740647	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00239772051691128	0.164
18	34320610	T	C	18	36740647	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.8578657776879E-4	0.058
18	34320610	T	G	18	36740647	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00232206762040095	0.132
18	34320611	A	C	18	36740648	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.89876951757761E-5	0.01
18	34320611	A	G	18	36740648	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.84284240824962E-5	0.002
18	34320611	A	T	18	36740648	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.67944982512943E-5	0.0
18	34320612	T	A	18	36740649	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0132230496746228	0.084
18	34320612	T	C	18	36740649	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.47938885496435E-4	0.116
18	34320612	T	G	18	36740649	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999897518915544	0.982
18	34320613	T	A	18	36740650	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.413918762732899	0.372
18	34320613	T	C	18	36740650	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00214649753927748	0.034
18	34320613	T	G	18	36740650	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.436285961110001	0.398
18	34320614	T	A	18	36740651	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.939444953915436	0.782
18	34320614	T	C	18	36740651	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.386275118692843	0.286
18	34320614	T	G	18	36740651	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.991745732279602	0.798
18	34320615	C	A	18	36740652	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00108775019527387	0.06
18	34320615	C	G	18	36740652	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00168070259443845	0.046
18	34320615	C	T	18	36740652	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.87871987476691E-4	0.086
18	34320616	C	A	18	36740653	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.983705018137087	0.814
18	34320616	C	G	18	36740653	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999443820853717	0.964
18	34320616	C	T	18	36740653	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00480994869954831	0.022
18	34320617	A	C	18	36740654	y	y	splicing	FHOD3(NM_025135:exon18:c.3052-2A>C;NM_001281740:exon21:c.3577-2A>C;NM_001281739:exon17:c.3001-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3052-2A>C;ENST00000445677:exon17:c.2938-2A>C;ENST00000359247:exon17:c.3001-2A>C;ENST00000590592:exon21:c.3577-2A>C;ENST00000591635:exon10:c.640-2A>C;ENST00000592930:exon11:c.2333-2A>C;ENST00000585579:exon2:c.102-2A>C)	.	.	0.999988247793601	0.94
18	34320617	A	G	18	36740654	y	y	splicing	FHOD3(NM_025135:exon18:c.3052-2A>G;NM_001281740:exon21:c.3577-2A>G;NM_001281739:exon17:c.3001-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3052-2A>G;ENST00000445677:exon17:c.2938-2A>G;ENST00000359247:exon17:c.3001-2A>G;ENST00000590592:exon21:c.3577-2A>G;ENST00000591635:exon10:c.640-2A>G;ENST00000592930:exon11:c.2333-2A>G;ENST00000585579:exon2:c.102-2A>G)	.	.	0.999988247793601	0.94
18	34320617	A	T	18	36740654	y	y	splicing	FHOD3(NM_025135:exon18:c.3052-2A>T;NM_001281740:exon21:c.3577-2A>T;NM_001281739:exon17:c.3001-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3052-2A>T;ENST00000445677:exon17:c.2938-2A>T;ENST00000359247:exon17:c.3001-2A>T;ENST00000590592:exon21:c.3577-2A>T;ENST00000591635:exon10:c.640-2A>T;ENST00000592930:exon11:c.2333-2A>T;ENST00000585579:exon2:c.102-2A>T)	.	.	0.999988247793601	0.94
18	34320618	G	A	18	36740655	y	y	splicing	FHOD3(NM_025135:exon18:c.3052-1G>A;NM_001281740:exon21:c.3577-1G>A;NM_001281739:exon17:c.3001-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3052-1G>A;ENST00000445677:exon17:c.2938-1G>A;ENST00000359247:exon17:c.3001-1G>A;ENST00000590592:exon21:c.3577-1G>A;ENST00000591635:exon10:c.640-1G>A;ENST00000592930:exon11:c.2333-1G>A;ENST00000585579:exon2:c.102-1G>A)	.	.	0.999989072007339	0.944
18	34320618	G	C	18	36740655	y	y	splicing	FHOD3(NM_025135:exon18:c.3052-1G>C;NM_001281740:exon21:c.3577-1G>C;NM_001281739:exon17:c.3001-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3052-1G>C;ENST00000445677:exon17:c.2938-1G>C;ENST00000359247:exon17:c.3001-1G>C;ENST00000590592:exon21:c.3577-1G>C;ENST00000591635:exon10:c.640-1G>C;ENST00000592930:exon11:c.2333-1G>C;ENST00000585579:exon2:c.102-1G>C)	.	.	0.999989072007339	0.944
18	34320618	G	T	18	36740655	y	y	splicing	FHOD3(NM_025135:exon18:c.3052-1G>T;NM_001281740:exon21:c.3577-1G>T;NM_001281739:exon17:c.3001-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3052-1G>T;ENST00000445677:exon17:c.2938-1G>T;ENST00000359247:exon17:c.3001-1G>T;ENST00000590592:exon21:c.3577-1G>T;ENST00000591635:exon10:c.640-1G>T;ENST00000592930:exon11:c.2333-1G>T;ENST00000585579:exon2:c.102-1G>T)	.	.	0.999989072007339	0.944
18	34320619	A	C	18	36740656	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3052C:p.K1018Q;FHOD3:NM_001281740:exon21:c.A3577C:p.K1193Q;FHOD3:NM_001281739:exon17:c.A3001C:p.K1001Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3001C:p.K1001Q;ENSG00000134775:ENST00000257209:exon18:c.A3052C:p.K1018Q;ENSG00000134775:ENST00000591635:exon10:c.A640C:p.K214Q;ENSG00000134775:ENST00000590592:exon21:c.A3577C:p.K1193Q;ENSG00000134775:ENST00000445677:exon17:c.A2938C:p.K980Q;	0.913984883218365	0.564
18	34320619	A	G	18	36740656	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3052G:p.K1018E;FHOD3:NM_001281740:exon21:c.A3577G:p.K1193E;FHOD3:NM_001281739:exon17:c.A3001G:p.K1001E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3001G:p.K1001E;ENSG00000134775:ENST00000257209:exon18:c.A3052G:p.K1018E;ENSG00000134775:ENST00000591635:exon10:c.A640G:p.K214E;ENSG00000134775:ENST00000590592:exon21:c.A3577G:p.K1193E;ENSG00000134775:ENST00000445677:exon17:c.A2938G:p.K980E;	0.577570046250887	0.566
18	34320619	A	T	18	36740656	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon18:c.A3052T:p.K1018X;FHOD3:NM_001281740:exon21:c.A3577T:p.K1193X;FHOD3:NM_001281739:exon17:c.A3001T:p.K1001X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon17:c.A3001T:p.K1001X;ENSG00000134775:ENST00000257209:exon18:c.A3052T:p.K1018X;ENSG00000134775:ENST00000591635:exon10:c.A640T:p.K214X;ENSG00000134775:ENST00000590592:exon21:c.A3577T:p.K1193X;ENSG00000134775:ENST00000445677:exon17:c.A2938T:p.K980X;	0.84232825319781	0.62
18	34320620	A	C	18	36740657	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3053C:p.K1018T;FHOD3:NM_001281740:exon21:c.A3578C:p.K1193T;FHOD3:NM_001281739:exon17:c.A3002C:p.K1001T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3002C:p.K1001T;ENSG00000134775:ENST00000257209:exon18:c.A3053C:p.K1018T;ENSG00000134775:ENST00000591635:exon10:c.A641C:p.K214T;ENSG00000134775:ENST00000590592:exon21:c.A3578C:p.K1193T;ENSG00000134775:ENST00000445677:exon17:c.A2939C:p.K980T;	0.865728092080954	0.756
18	34320620	A	G	18	36740657	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3053G:p.K1018R;FHOD3:NM_001281740:exon21:c.A3578G:p.K1193R;FHOD3:NM_001281739:exon17:c.A3002G:p.K1001R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3002G:p.K1001R;ENSG00000134775:ENST00000257209:exon18:c.A3053G:p.K1018R;ENSG00000134775:ENST00000591635:exon10:c.A641G:p.K214R;ENSG00000134775:ENST00000590592:exon21:c.A3578G:p.K1193R;ENSG00000134775:ENST00000445677:exon17:c.A2939G:p.K980R;	0.887800585511254	0.688
18	34320620	A	T	18	36740657	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3053T:p.K1018I;FHOD3:NM_001281740:exon21:c.A3578T:p.K1193I;FHOD3:NM_001281739:exon17:c.A3002T:p.K1001I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3002T:p.K1001I;ENSG00000134775:ENST00000257209:exon18:c.A3053T:p.K1018I;ENSG00000134775:ENST00000591635:exon10:c.A641T:p.K214I;ENSG00000134775:ENST00000590592:exon21:c.A3578T:p.K1193I;ENSG00000134775:ENST00000445677:exon17:c.A2939T:p.K980I;	0.788551862892352	0.67
18	34320799	A	C	18	36740836	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3232C:p.K1078Q;FHOD3:NM_001281740:exon21:c.A3757C:p.K1253Q;FHOD3:NM_001281739:exon17:c.A3181C:p.K1061Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3181C:p.K1061Q;ENSG00000134775:ENST00000257209:exon18:c.A3232C:p.K1078Q;ENSG00000134775:ENST00000591635:exon10:c.A820C:p.K274Q;ENSG00000134775:ENST00000590592:exon21:c.A3757C:p.K1253Q;ENSG00000134775:ENST00000445677:exon17:c.A3118C:p.K1040Q;ENSG00000134775:ENST00000592128:exon3:c.A169C:p.K57Q;	0.747796644945594	0.416
18	34320799	A	G	18	36740836	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3232G:p.K1078E;FHOD3:NM_001281740:exon21:c.A3757G:p.K1253E;FHOD3:NM_001281739:exon17:c.A3181G:p.K1061E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3181G:p.K1061E;ENSG00000134775:ENST00000257209:exon18:c.A3232G:p.K1078E;ENSG00000134775:ENST00000591635:exon10:c.A820G:p.K274E;ENSG00000134775:ENST00000590592:exon21:c.A3757G:p.K1253E;ENSG00000134775:ENST00000445677:exon17:c.A3118G:p.K1040E;ENSG00000134775:ENST00000592128:exon3:c.A169G:p.K57E;	0.302762257052071	0.338
18	34320799	A	T	18	36740836	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon18:c.A3232T:p.K1078X;FHOD3:NM_001281740:exon21:c.A3757T:p.K1253X;FHOD3:NM_001281739:exon17:c.A3181T:p.K1061X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon17:c.A3181T:p.K1061X;ENSG00000134775:ENST00000257209:exon18:c.A3232T:p.K1078X;ENSG00000134775:ENST00000591635:exon10:c.A820T:p.K274X;ENSG00000134775:ENST00000590592:exon21:c.A3757T:p.K1253X;ENSG00000134775:ENST00000445677:exon17:c.A3118T:p.K1040X;ENSG00000134775:ENST00000592128:exon3:c.A169T:p.K57X;	0.957903577455311	0.632
18	34320800	A	C	18	36740837	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3233C:p.K1078T;FHOD3:NM_001281740:exon21:c.A3758C:p.K1253T;FHOD3:NM_001281739:exon17:c.A3182C:p.K1061T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3182C:p.K1061T;ENSG00000134775:ENST00000257209:exon18:c.A3233C:p.K1078T;ENSG00000134775:ENST00000591635:exon10:c.A821C:p.K274T;ENSG00000134775:ENST00000590592:exon21:c.A3758C:p.K1253T;ENSG00000134775:ENST00000445677:exon17:c.A3119C:p.K1040T;ENSG00000134775:ENST00000592128:exon3:c.A170C:p.K57T;	0.989530394269414	0.852
18	34320800	A	G	18	36740837	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3233G:p.K1078R;FHOD3:NM_001281740:exon21:c.A3758G:p.K1253R;FHOD3:NM_001281739:exon17:c.A3182G:p.K1061R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3182G:p.K1061R;ENSG00000134775:ENST00000257209:exon18:c.A3233G:p.K1078R;ENSG00000134775:ENST00000591635:exon10:c.A821G:p.K274R;ENSG00000134775:ENST00000590592:exon21:c.A3758G:p.K1253R;ENSG00000134775:ENST00000445677:exon17:c.A3119G:p.K1040R;ENSG00000134775:ENST00000592128:exon3:c.A170G:p.K57R;	0.993208486277707	0.876
18	34320800	A	T	18	36740837	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.A3233T:p.K1078M;FHOD3:NM_001281740:exon21:c.A3758T:p.K1253M;FHOD3:NM_001281739:exon17:c.A3182T:p.K1061M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.A3182T:p.K1061M;ENSG00000134775:ENST00000257209:exon18:c.A3233T:p.K1078M;ENSG00000134775:ENST00000591635:exon10:c.A821T:p.K274M;ENSG00000134775:ENST00000590592:exon21:c.A3758T:p.K1253M;ENSG00000134775:ENST00000445677:exon17:c.A3119T:p.K1040M;ENSG00000134775:ENST00000592128:exon3:c.A170T:p.K57M;	0.993420559212589	0.64
18	34320801	G	A	18	36740838	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon18:c.G3234A:p.K1078K;FHOD3:NM_001281740:exon21:c.G3759A:p.K1253K;FHOD3:NM_001281739:exon17:c.G3183A:p.K1061K;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.G3183A:p.K1061K;ENSG00000134775:ENST00000257209:exon18:c.G3234A:p.K1078K;ENSG00000134775:ENST00000591635:exon10:c.G822A:p.K274K;ENSG00000134775:ENST00000590592:exon21:c.G3759A:p.K1253K;ENSG00000134775:ENST00000445677:exon17:c.G3120A:p.K1040K;ENSG00000134775:ENST00000592128:exon3:c.G171A:p.K57K;	0.993318633994927	0.772
18	34320801	G	C	18	36740838	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.G3234C:p.K1078N;FHOD3:NM_001281740:exon21:c.G3759C:p.K1253N;FHOD3:NM_001281739:exon17:c.G3183C:p.K1061N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.G3183C:p.K1061N;ENSG00000134775:ENST00000257209:exon18:c.G3234C:p.K1078N;ENSG00000134775:ENST00000591635:exon10:c.G822C:p.K274N;ENSG00000134775:ENST00000590592:exon21:c.G3759C:p.K1253N;ENSG00000134775:ENST00000445677:exon17:c.G3120C:p.K1040N;ENSG00000134775:ENST00000592128:exon3:c.G171C:p.K57N;	0.99992902238124	0.914
18	34320801	G	T	18	36740838	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon18:c.G3234T:p.K1078N;FHOD3:NM_001281740:exon21:c.G3759T:p.K1253N;FHOD3:NM_001281739:exon17:c.G3183T:p.K1061N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon17:c.G3183T:p.K1061N;ENSG00000134775:ENST00000257209:exon18:c.G3234T:p.K1078N;ENSG00000134775:ENST00000591635:exon10:c.G822T:p.K274N;ENSG00000134775:ENST00000590592:exon21:c.G3759T:p.K1253N;ENSG00000134775:ENST00000445677:exon17:c.G3120T:p.K1040N;ENSG00000134775:ENST00000592128:exon3:c.G171T:p.K57N;	0.999915956043776	0.996
18	34320802	G	A	18	36740839	y	y	splicing	FHOD3(NM_025135:exon18:c.3234+1G>A;NM_001281740:exon21:c.3759+1G>A;NM_001281739:exon17:c.3183+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3234+1G>A;ENST00000445677:exon17:c.3120+1G>A;ENST00000359247:exon17:c.3183+1G>A;ENST00000590592:exon21:c.3759+1G>A;ENST00000591635:exon10:c.822+1G>A;ENST00000592930:exon11:c.2515+1G>A;ENST00000592128:exon3:c.171+1G>A;ENST00000585579:exon2:c.284+1G>A)	.	.	0.999989072007339	0.934
18	34320802	G	C	18	36740839	y	y	splicing	FHOD3(NM_025135:exon18:c.3234+1G>C;NM_001281740:exon21:c.3759+1G>C;NM_001281739:exon17:c.3183+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3234+1G>C;ENST00000445677:exon17:c.3120+1G>C;ENST00000359247:exon17:c.3183+1G>C;ENST00000590592:exon21:c.3759+1G>C;ENST00000591635:exon10:c.822+1G>C;ENST00000592930:exon11:c.2515+1G>C;ENST00000592128:exon3:c.171+1G>C;ENST00000585579:exon2:c.284+1G>C)	.	.	0.999989072007339	0.932
18	34320802	G	T	18	36740839	y	y	splicing	FHOD3(NM_025135:exon18:c.3234+1G>T;NM_001281740:exon21:c.3759+1G>T;NM_001281739:exon17:c.3183+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3234+1G>T;ENST00000445677:exon17:c.3120+1G>T;ENST00000359247:exon17:c.3183+1G>T;ENST00000590592:exon21:c.3759+1G>T;ENST00000591635:exon10:c.822+1G>T;ENST00000592930:exon11:c.2515+1G>T;ENST00000592128:exon3:c.171+1G>T;ENST00000585579:exon2:c.284+1G>T)	.	.	0.999989072007339	0.932
18	34320803	T	A	18	36740840	y	y	splicing	FHOD3(NM_025135:exon18:c.3234+2T>A;NM_001281740:exon21:c.3759+2T>A;NM_001281739:exon17:c.3183+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3234+2T>A;ENST00000445677:exon17:c.3120+2T>A;ENST00000359247:exon17:c.3183+2T>A;ENST00000590592:exon21:c.3759+2T>A;ENST00000591635:exon10:c.822+2T>A;ENST00000592930:exon11:c.2515+2T>A;ENST00000592128:exon3:c.171+2T>A;ENST00000585579:exon2:c.284+2T>A)	.	.	0.999988247793601	0.93
18	34320803	T	C	18	36740840	y	y	splicing	FHOD3(NM_025135:exon18:c.3234+2T>C;NM_001281740:exon21:c.3759+2T>C;NM_001281739:exon17:c.3183+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3234+2T>C;ENST00000445677:exon17:c.3120+2T>C;ENST00000359247:exon17:c.3183+2T>C;ENST00000590592:exon21:c.3759+2T>C;ENST00000591635:exon10:c.822+2T>C;ENST00000592930:exon11:c.2515+2T>C;ENST00000592128:exon3:c.171+2T>C;ENST00000585579:exon2:c.284+2T>C)	.	.	0.986973409415639	0.66
18	34320803	T	G	18	36740840	y	y	splicing	FHOD3(NM_025135:exon18:c.3234+2T>G;NM_001281740:exon21:c.3759+2T>G;NM_001281739:exon17:c.3183+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon18:c.3234+2T>G;ENST00000445677:exon17:c.3120+2T>G;ENST00000359247:exon17:c.3183+2T>G;ENST00000590592:exon21:c.3759+2T>G;ENST00000591635:exon10:c.822+2T>G;ENST00000592930:exon11:c.2515+2T>G;ENST00000592128:exon3:c.171+2T>G;ENST00000585579:exon2:c.284+2T>G)	.	.	0.999988247793601	0.93
18	34320804	A	C	18	36740841	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.869123050759686	0.634
18	34320804	A	G	18	36740841	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00903350080257529	0.14
18	34320804	A	T	18	36740841	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.943365212577746	0.634
18	34320805	A	C	18	36740842	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0219174721616914	0.278
18	34320805	A	G	18	36740842	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0371563369200573	0.284
18	34320805	A	T	18	36740842	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0173701239204249	0.268
18	34320806	G	A	18	36740843	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.463737818081064	0.53
18	34320806	G	C	18	36740843	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.436407911387834	0.574
18	34320806	G	T	18	36740843	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.786415995248092	0.438
18	34320807	C	A	18	36740844	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.4130356185658E-5	0.002
18	34320807	C	G	18	36740844	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.67771749993141E-5	0.03
18	34320807	C	T	18	36740844	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.18754770055449E-5	0.0
18	34320808	T	A	18	36740845	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.48519371611462E-5	0.0
18	34320808	T	C	18	36740845	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.48519371611462E-5	0.0
18	34320808	T	G	18	36740845	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.48519371611462E-5	0.0
18	34320809	C	A	18	36740846	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.82381591507117E-5	0.0
18	34320809	C	G	18	36740846	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.80382669053064E-5	0.0
18	34320809	C	T	18	36740846	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.94788035754117E-5	0.004
18	34322688	T	A	18	36742725	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.434531630899725	0.764
18	34322688	T	C	18	36742725	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.84772775701596E-4	0.058
18	34322688	T	G	18	36742725	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.214359788078929	0.604
18	34322689	T	A	18	36742726	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.981089546629599	0.884
18	34322689	T	C	18	36742726	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0866237856642243	0.406
18	34322689	T	G	18	36742726	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.906862237422206	0.778
18	34322690	T	A	18	36742727	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.632992044450417	0.608
18	34322690	T	C	18	36742727	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.61470195716698E-4	0.038
18	34322690	T	G	18	36742727	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.67970883592209	0.584
18	34322691	A	C	18	36742728	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.35663236459235E-5	0.02
18	34322691	A	G	18	36742728	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.61294510429314E-5	0.01
18	34322691	A	T	18	36742728	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.94565259569218E-5	0.024
18	34322692	A	C	18	36742729	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.08580897482882E-4	0.028
18	34322692	A	G	18	36742729	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999459177984304	0.95
18	34322692	A	T	18	36742729	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.32014135225397E-4	0.052
18	34322693	C	A	18	36742730	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0466236072206248	0.19
18	34322693	C	G	18	36742730	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999864883748397	0.958
18	34322693	C	T	18	36742730	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.2928686149676E-4	0.07
18	34322694	T	A	18	36742731	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999939608135737	0.952
18	34322694	T	C	18	36742731	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00570744018014543	0.102
18	34322694	T	G	18	36742731	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.989403342298283	0.676
18	34322695	G	A	18	36742732	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00120270303133344	0.038
18	34322695	G	C	18	36742732	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00158353577824467	0.06
18	34322695	G	T	18	36742732	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00267109874297658	0.09
18	34322696	A	C	18	36742733	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.58373221197265E-4	0.052
18	34322696	A	G	18	36742733	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00105486055492091	0.06
18	34322696	A	T	18	36742733	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00308914606043678	0.092
18	34322697	A	C	18	36742734	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.6068927998618E-4	0.068
18	34322697	A	G	18	36742734	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.42154014960216	0.258
18	34322697	A	T	18	36742734	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.83641332212584E-4	0.054
18	34322698	A	C	18	36742735	y	y	splicing	FHOD3(NM_025135:exon19:c.3235-2A>C;NM_001281740:exon22:c.3760-2A>C;NM_001281739:exon18:c.3184-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3235-2A>C;ENST00000445677:exon18:c.3121-2A>C;ENST00000359247:exon18:c.3184-2A>C;ENST00000590592:exon22:c.3760-2A>C;ENST00000591635:exon11:c.823-2A>C;ENST00000592930:exon12:c.2516-2A>C;ENST00000592128:exon4:c.172-2A>C;ENST00000585579:exon3:c.285-2A>C)	.	.	0.999979394981131	0.914
18	34322698	A	G	18	36742735	y	y	splicing	FHOD3(NM_025135:exon19:c.3235-2A>G;NM_001281740:exon22:c.3760-2A>G;NM_001281739:exon18:c.3184-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3235-2A>G;ENST00000445677:exon18:c.3121-2A>G;ENST00000359247:exon18:c.3184-2A>G;ENST00000590592:exon22:c.3760-2A>G;ENST00000591635:exon11:c.823-2A>G;ENST00000592930:exon12:c.2516-2A>G;ENST00000592128:exon4:c.172-2A>G;ENST00000585579:exon3:c.285-2A>G)	.	.	0.999979394981131	0.914
18	34322698	A	T	18	36742735	y	y	splicing	FHOD3(NM_025135:exon19:c.3235-2A>T;NM_001281740:exon22:c.3760-2A>T;NM_001281739:exon18:c.3184-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3235-2A>T;ENST00000445677:exon18:c.3121-2A>T;ENST00000359247:exon18:c.3184-2A>T;ENST00000590592:exon22:c.3760-2A>T;ENST00000591635:exon11:c.823-2A>T;ENST00000592930:exon12:c.2516-2A>T;ENST00000592128:exon4:c.172-2A>T;ENST00000585579:exon3:c.285-2A>T)	.	.	0.999979394981131	0.914
18	34322699	G	A	18	36742736	y	y	splicing	FHOD3(NM_025135:exon19:c.3235-1G>A;NM_001281740:exon22:c.3760-1G>A;NM_001281739:exon18:c.3184-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3235-1G>A;ENST00000445677:exon18:c.3121-1G>A;ENST00000359247:exon18:c.3184-1G>A;ENST00000590592:exon22:c.3760-1G>A;ENST00000591635:exon11:c.823-1G>A;ENST00000592930:exon12:c.2516-1G>A;ENST00000592128:exon4:c.172-1G>A;ENST00000585579:exon3:c.285-1G>A)	.	.	0.999974634749143	0.904
18	34322699	G	C	18	36742736	y	y	splicing	FHOD3(NM_025135:exon19:c.3235-1G>C;NM_001281740:exon22:c.3760-1G>C;NM_001281739:exon18:c.3184-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3235-1G>C;ENST00000445677:exon18:c.3121-1G>C;ENST00000359247:exon18:c.3184-1G>C;ENST00000590592:exon22:c.3760-1G>C;ENST00000591635:exon11:c.823-1G>C;ENST00000592930:exon12:c.2516-1G>C;ENST00000592128:exon4:c.172-1G>C;ENST00000585579:exon3:c.285-1G>C)	.	.	0.999974634749143	0.904
18	34322699	G	T	18	36742736	y	y	splicing	FHOD3(NM_025135:exon19:c.3235-1G>T;NM_001281740:exon22:c.3760-1G>T;NM_001281739:exon18:c.3184-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3235-1G>T;ENST00000445677:exon18:c.3121-1G>T;ENST00000359247:exon18:c.3184-1G>T;ENST00000590592:exon22:c.3760-1G>T;ENST00000591635:exon11:c.823-1G>T;ENST00000592930:exon12:c.2516-1G>T;ENST00000592128:exon4:c.172-1G>T;ENST00000585579:exon3:c.285-1G>T)	.	.	0.999974634749143	0.904
18	34322700	G	A	18	36742737	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.G3235A:p.E1079K;FHOD3:NM_001281740:exon22:c.G3760A:p.E1254K;FHOD3:NM_001281739:exon18:c.G3184A:p.E1062K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.G3184A:p.E1062K;ENSG00000134775:ENST00000257209:exon19:c.G3235A:p.E1079K;ENSG00000134775:ENST00000591635:exon11:c.G823A:p.E275K;ENSG00000134775:ENST00000590592:exon22:c.G3760A:p.E1254K;ENSG00000134775:ENST00000445677:exon18:c.G3121A:p.E1041K;ENSG00000134775:ENST00000592128:exon4:c.G172A:p.E58K;	0.999936813577595	0.872
18	34322700	G	C	18	36742737	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.G3235C:p.E1079Q;FHOD3:NM_001281740:exon22:c.G3760C:p.E1254Q;FHOD3:NM_001281739:exon18:c.G3184C:p.E1062Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.G3184C:p.E1062Q;ENSG00000134775:ENST00000257209:exon19:c.G3235C:p.E1079Q;ENSG00000134775:ENST00000591635:exon11:c.G823C:p.E275Q;ENSG00000134775:ENST00000590592:exon22:c.G3760C:p.E1254Q;ENSG00000134775:ENST00000445677:exon18:c.G3121C:p.E1041Q;ENSG00000134775:ENST00000592128:exon4:c.G172C:p.E58Q;	0.999706262001061	0.944
18	34322700	G	T	18	36742737	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon19:c.G3235T:p.E1079X;FHOD3:NM_001281740:exon22:c.G3760T:p.E1254X;FHOD3:NM_001281739:exon18:c.G3184T:p.E1062X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon18:c.G3184T:p.E1062X;ENSG00000134775:ENST00000257209:exon19:c.G3235T:p.E1079X;ENSG00000134775:ENST00000591635:exon11:c.G823T:p.E275X;ENSG00000134775:ENST00000590592:exon22:c.G3760T:p.E1254X;ENSG00000134775:ENST00000445677:exon18:c.G3121T:p.E1041X;ENSG00000134775:ENST00000592128:exon4:c.G172T:p.E58X;	0.999869650858116	0.954
18	34322701	A	C	18	36742738	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3236C:p.E1079A;FHOD3:NM_001281740:exon22:c.A3761C:p.E1254A;FHOD3:NM_001281739:exon18:c.A3185C:p.E1062A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3185C:p.E1062A;ENSG00000134775:ENST00000257209:exon19:c.A3236C:p.E1079A;ENSG00000134775:ENST00000591635:exon11:c.A824C:p.E275A;ENSG00000134775:ENST00000590592:exon22:c.A3761C:p.E1254A;ENSG00000134775:ENST00000445677:exon18:c.A3122C:p.E1041A;ENSG00000134775:ENST00000592128:exon4:c.A173C:p.E58A;	0.861730614848256	0.834
18	34322701	A	G	18	36742738	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3236G:p.E1079G;FHOD3:NM_001281740:exon22:c.A3761G:p.E1254G;FHOD3:NM_001281739:exon18:c.A3185G:p.E1062G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3185G:p.E1062G;ENSG00000134775:ENST00000257209:exon19:c.A3236G:p.E1079G;ENSG00000134775:ENST00000591635:exon11:c.A824G:p.E275G;ENSG00000134775:ENST00000590592:exon22:c.A3761G:p.E1254G;ENSG00000134775:ENST00000445677:exon18:c.A3122G:p.E1041G;ENSG00000134775:ENST00000592128:exon4:c.A173G:p.E58G;	0.85643238139344	0.782
18	34322701	A	T	18	36742738	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3236T:p.E1079V;FHOD3:NM_001281740:exon22:c.A3761T:p.E1254V;FHOD3:NM_001281739:exon18:c.A3185T:p.E1062V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3185T:p.E1062V;ENSG00000134775:ENST00000257209:exon19:c.A3236T:p.E1079V;ENSG00000134775:ENST00000591635:exon11:c.A824T:p.E275V;ENSG00000134775:ENST00000590592:exon22:c.A3761T:p.E1254V;ENSG00000134775:ENST00000445677:exon18:c.A3122T:p.E1041V;ENSG00000134775:ENST00000592128:exon4:c.A173T:p.E58V;	0.84155608336441	0.83
18	34322817	A	C	18	36742854	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3352C:p.N1118H;FHOD3:NM_001281740:exon22:c.A3877C:p.N1293H;FHOD3:NM_001281739:exon18:c.A3301C:p.N1101H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3301C:p.N1101H;ENSG00000134775:ENST00000257209:exon19:c.A3352C:p.N1118H;ENSG00000134775:ENST00000591635:exon11:c.A940C:p.N314H;ENSG00000134775:ENST00000590592:exon22:c.A3877C:p.N1293H;ENSG00000134775:ENST00000445677:exon18:c.A3238C:p.N1080H;ENSG00000134775:ENST00000592128:exon4:c.A289C:p.N97H;	0.51538107598274	0.672
18	34322817	A	G	18	36742854	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3352G:p.N1118D;FHOD3:NM_001281740:exon22:c.A3877G:p.N1293D;FHOD3:NM_001281739:exon18:c.A3301G:p.N1101D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3301G:p.N1101D;ENSG00000134775:ENST00000257209:exon19:c.A3352G:p.N1118D;ENSG00000134775:ENST00000591635:exon11:c.A940G:p.N314D;ENSG00000134775:ENST00000590592:exon22:c.A3877G:p.N1293D;ENSG00000134775:ENST00000445677:exon18:c.A3238G:p.N1080D;ENSG00000134775:ENST00000592128:exon4:c.A289G:p.N97D;	0.423693965098313	0.532
18	34322817	A	T	18	36742854	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3352T:p.N1118Y;FHOD3:NM_001281740:exon22:c.A3877T:p.N1293Y;FHOD3:NM_001281739:exon18:c.A3301T:p.N1101Y;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3301T:p.N1101Y;ENSG00000134775:ENST00000257209:exon19:c.A3352T:p.N1118Y;ENSG00000134775:ENST00000591635:exon11:c.A940T:p.N314Y;ENSG00000134775:ENST00000590592:exon22:c.A3877T:p.N1293Y;ENSG00000134775:ENST00000445677:exon18:c.A3238T:p.N1080Y;ENSG00000134775:ENST00000592128:exon4:c.A289T:p.N97Y;	0.959088792543584	0.616
18	34322818	A	C	18	36742855	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3353C:p.N1118T;FHOD3:NM_001281740:exon22:c.A3878C:p.N1293T;FHOD3:NM_001281739:exon18:c.A3302C:p.N1101T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3302C:p.N1101T;ENSG00000134775:ENST00000257209:exon19:c.A3353C:p.N1118T;ENSG00000134775:ENST00000591635:exon11:c.A941C:p.N314T;ENSG00000134775:ENST00000590592:exon22:c.A3878C:p.N1293T;ENSG00000134775:ENST00000445677:exon18:c.A3239C:p.N1080T;ENSG00000134775:ENST00000592128:exon4:c.A290C:p.N97T;	0.995790624835424	0.964
18	34322818	A	G	18	36742855	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3353G:p.N1118S;FHOD3:NM_001281740:exon22:c.A3878G:p.N1293S;FHOD3:NM_001281739:exon18:c.A3302G:p.N1101S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3302G:p.N1101S;ENSG00000134775:ENST00000257209:exon19:c.A3353G:p.N1118S;ENSG00000134775:ENST00000591635:exon11:c.A941G:p.N314S;ENSG00000134775:ENST00000590592:exon22:c.A3878G:p.N1293S;ENSG00000134775:ENST00000445677:exon18:c.A3239G:p.N1080S;ENSG00000134775:ENST00000592128:exon4:c.A290G:p.N97S;	0.99406219648402	0.934
18	34322818	A	T	18	36742855	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.A3353T:p.N1118I;FHOD3:NM_001281740:exon22:c.A3878T:p.N1293I;FHOD3:NM_001281739:exon18:c.A3302T:p.N1101I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.A3302T:p.N1101I;ENSG00000134775:ENST00000257209:exon19:c.A3353T:p.N1118I;ENSG00000134775:ENST00000591635:exon11:c.A941T:p.N314I;ENSG00000134775:ENST00000590592:exon22:c.A3878T:p.N1293I;ENSG00000134775:ENST00000445677:exon18:c.A3239T:p.N1080I;ENSG00000134775:ENST00000592128:exon4:c.A290T:p.N97I;	0.99446744605201	0.936
18	34322819	T	A	18	36742856	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.T3354A:p.N1118K;FHOD3:NM_001281740:exon22:c.T3879A:p.N1293K;FHOD3:NM_001281739:exon18:c.T3303A:p.N1101K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.T3303A:p.N1101K;ENSG00000134775:ENST00000257209:exon19:c.T3354A:p.N1118K;ENSG00000134775:ENST00000591635:exon11:c.T942A:p.N314K;ENSG00000134775:ENST00000590592:exon22:c.T3879A:p.N1293K;ENSG00000134775:ENST00000445677:exon18:c.T3240A:p.N1080K;ENSG00000134775:ENST00000592128:exon4:c.T291A:p.N97K;	3.24140902946004E-5	0.068
18	34322819	T	C	18	36742856	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon19:c.T3354C:p.N1118N;FHOD3:NM_001281740:exon22:c.T3879C:p.N1293N;FHOD3:NM_001281739:exon18:c.T3303C:p.N1101N;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.T3303C:p.N1101N;ENSG00000134775:ENST00000257209:exon19:c.T3354C:p.N1118N;ENSG00000134775:ENST00000591635:exon11:c.T942C:p.N314N;ENSG00000134775:ENST00000590592:exon22:c.T3879C:p.N1293N;ENSG00000134775:ENST00000445677:exon18:c.T3240C:p.N1080N;ENSG00000134775:ENST00000592128:exon4:c.T291C:p.N97N;	0.00156910901753904	0.022
18	34322819	T	G	18	36742856	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon19:c.T3354G:p.N1118K;FHOD3:NM_001281740:exon22:c.T3879G:p.N1293K;FHOD3:NM_001281739:exon18:c.T3303G:p.N1101K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon18:c.T3303G:p.N1101K;ENSG00000134775:ENST00000257209:exon19:c.T3354G:p.N1118K;ENSG00000134775:ENST00000591635:exon11:c.T942G:p.N314K;ENSG00000134775:ENST00000590592:exon22:c.T3879G:p.N1293K;ENSG00000134775:ENST00000445677:exon18:c.T3240G:p.N1080K;ENSG00000134775:ENST00000592128:exon4:c.T291G:p.N97K;	3.37349762475622E-5	0.124
18	34322820	G	A	18	36742857	y	y	splicing	FHOD3(NM_025135:exon19:c.3354+1G>A;NM_001281740:exon22:c.3879+1G>A;NM_001281739:exon18:c.3303+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3354+1G>A;ENST00000445677:exon18:c.3240+1G>A;ENST00000359247:exon18:c.3303+1G>A;ENST00000590592:exon22:c.3879+1G>A;ENST00000591635:exon11:c.942+1G>A;ENST00000592930:exon12:c.2635+1G>A;ENST00000592128:exon4:c.291+1G>A;ENST00000585579:exon3:c.404+1G>A)	.	.	0.999985532734767	0.936
18	34322820	G	C	18	36742857	y	y	splicing	FHOD3(NM_025135:exon19:c.3354+1G>C;NM_001281740:exon22:c.3879+1G>C;NM_001281739:exon18:c.3303+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3354+1G>C;ENST00000445677:exon18:c.3240+1G>C;ENST00000359247:exon18:c.3303+1G>C;ENST00000590592:exon22:c.3879+1G>C;ENST00000591635:exon11:c.942+1G>C;ENST00000592930:exon12:c.2635+1G>C;ENST00000592128:exon4:c.291+1G>C;ENST00000585579:exon3:c.404+1G>C)	.	.	0.999985532734767	0.936
18	34322820	G	T	18	36742857	y	y	splicing	FHOD3(NM_025135:exon19:c.3354+1G>T;NM_001281740:exon22:c.3879+1G>T;NM_001281739:exon18:c.3303+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3354+1G>T;ENST00000445677:exon18:c.3240+1G>T;ENST00000359247:exon18:c.3303+1G>T;ENST00000590592:exon22:c.3879+1G>T;ENST00000591635:exon11:c.942+1G>T;ENST00000592930:exon12:c.2635+1G>T;ENST00000592128:exon4:c.291+1G>T;ENST00000585579:exon3:c.404+1G>T)	.	.	0.999985532734767	0.936
18	34322821	T	A	18	36742858	y	y	splicing	FHOD3(NM_025135:exon19:c.3354+2T>A;NM_001281740:exon22:c.3879+2T>A;NM_001281739:exon18:c.3303+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3354+2T>A;ENST00000445677:exon18:c.3240+2T>A;ENST00000359247:exon18:c.3303+2T>A;ENST00000590592:exon22:c.3879+2T>A;ENST00000591635:exon11:c.942+2T>A;ENST00000592930:exon12:c.2635+2T>A;ENST00000592128:exon4:c.291+2T>A;ENST00000585579:exon3:c.404+2T>A)	.	.	0.999988247793601	0.928
18	34322821	T	C	18	36742858	y	y	splicing	FHOD3(NM_025135:exon19:c.3354+2T>C;NM_001281740:exon22:c.3879+2T>C;NM_001281739:exon18:c.3303+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3354+2T>C;ENST00000445677:exon18:c.3240+2T>C;ENST00000359247:exon18:c.3303+2T>C;ENST00000590592:exon22:c.3879+2T>C;ENST00000591635:exon11:c.942+2T>C;ENST00000592930:exon12:c.2635+2T>C;ENST00000592128:exon4:c.291+2T>C;ENST00000585579:exon3:c.404+2T>C)	.	.	0.99340600729494	0.674
18	34322821	T	G	18	36742858	y	y	splicing	FHOD3(NM_025135:exon19:c.3354+2T>G;NM_001281740:exon22:c.3879+2T>G;NM_001281739:exon18:c.3303+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon19:c.3354+2T>G;ENST00000445677:exon18:c.3240+2T>G;ENST00000359247:exon18:c.3303+2T>G;ENST00000590592:exon22:c.3879+2T>G;ENST00000591635:exon11:c.942+2T>G;ENST00000592930:exon12:c.2635+2T>G;ENST00000592128:exon4:c.291+2T>G;ENST00000585579:exon3:c.404+2T>G)	.	.	0.999988247793601	0.928
18	34322822	A	C	18	36742859	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999805533330216	0.908
18	34322822	A	G	18	36742859	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0176507188216078	0.18
18	34322822	A	T	18	36742859	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998270585673194	0.806
18	34322823	A	C	18	36742860	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997359537580054	0.9
18	34322823	A	G	18	36742860	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997977931173448	0.94
18	34322823	A	T	18	36742860	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998381384059977	0.884
18	34322824	G	A	18	36742861	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999724148096993	0.882
18	34322824	G	C	18	36742861	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997595738841579	0.944
18	34322824	G	T	18	36742861	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999908987160882	0.878
18	34322825	T	A	18	36742862	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.751673190232742	0.564
18	34322825	T	C	18	36742862	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.552717928399902	0.638
18	34322825	T	G	18	36742862	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.18896497939775	0.518
18	34322826	C	A	18	36742863	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.37912944616134E-5	0.026
18	34322826	C	G	18	36742863	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.09557440540112E-5	0.016
18	34322826	C	T	18	36742863	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.00072023146173E-5	0.004
18	34322827	A	C	18	36742864	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.13879224812485E-5	0.0
18	34322827	A	G	18	36742864	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.13879224812485E-5	0.0
18	34322827	A	T	18	36742864	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.15125035961338E-5	0.0
18	34323983	T	A	18	36744020	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.597192313125932	0.582
18	34323983	T	C	18	36744020	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00113892445589582	0.1
18	34323983	T	G	18	36744020	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.117449304315626	0.416
18	34323984	T	A	18	36744021	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.114610794481364	0.542
18	34323984	T	C	18	36744021	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00140646904391398	0.146
18	34323984	T	G	18	36744021	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0350740118683662	0.434
18	34323985	T	A	18	36744022	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999619983778387	0.934
18	34323985	T	C	18	36744022	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.65240016627215E-4	0.076
18	34323985	T	G	18	36744022	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.176016306282605	0.416
18	34323986	G	A	18	36744023	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.35236645435613E-4	0.044
18	34323986	G	C	18	36744023	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.1835374181605E-4	0.022
18	34323986	G	T	18	36744023	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.509795481024E-4	0.06
18	34323987	C	A	18	36744024	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.51034809805919E-4	0.078
18	34323987	C	G	18	36744024	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.70095066197887E-4	0.09
18	34323987	C	T	18	36744024	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.92419397409317E-5	0.01
18	34323988	A	C	18	36744025	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.88819332076348E-6	0.004
18	34323988	A	G	18	36744025	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.93732520385105E-6	0.004
18	34323988	A	T	18	36744025	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.09506850960622E-6	0.0
18	34323989	A	C	18	36744026	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.58645906776164E-5	0.0
18	34323989	A	G	18	36744026	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.715504479641115	0.904
18	34323989	A	T	18	36744026	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.67944982512943E-5	0.0
18	34323990	A	C	18	36744027	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.26599387140767E-5	0.0
18	34323990	A	G	18	36744027	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.876794896815147	0.94
18	34323990	A	T	18	36744027	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.95048459408849E-5	0.002
18	34323991	A	C	18	36744028	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.88024015418914E-5	0.002
18	34323991	A	G	18	36744028	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.827233278636203	0.78
18	34323991	A	T	18	36744028	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.63083175368715E-5	0.034
18	34323992	C	A	18	36744029	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.806015564274813	0.782
18	34323992	C	G	18	36744029	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.930960730553405	0.732
18	34323992	C	T	18	36744029	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.40743808169209E-4	0.122
18	34323993	A	C	18	36744030	y	y	splicing	FHOD3(NM_025135:exon20:c.3355-2A>C;NM_001281740:exon23:c.3880-2A>C;NM_001281739:exon19:c.3304-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3355-2A>C;ENST00000445677:exon19:c.3241-2A>C;ENST00000359247:exon19:c.3304-2A>C;ENST00000590592:exon23:c.3880-2A>C;ENST00000591635:exon12:c.943-2A>C;ENST00000592930:exon13:c.2636-2A>C;ENST00000592128:exon5:c.292-2A>C;ENST00000585579:exon4:c.405-2A>C)	.	.	0.999929212011429	0.884
18	34323993	A	G	18	36744030	y	y	splicing	FHOD3(NM_025135:exon20:c.3355-2A>G;NM_001281740:exon23:c.3880-2A>G;NM_001281739:exon19:c.3304-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3355-2A>G;ENST00000445677:exon19:c.3241-2A>G;ENST00000359247:exon19:c.3304-2A>G;ENST00000590592:exon23:c.3880-2A>G;ENST00000591635:exon12:c.943-2A>G;ENST00000592930:exon13:c.2636-2A>G;ENST00000592128:exon5:c.292-2A>G;ENST00000585579:exon4:c.405-2A>G)	.	.	0.999929212011429	0.884
18	34323993	A	T	18	36744030	y	y	splicing	FHOD3(NM_025135:exon20:c.3355-2A>T;NM_001281740:exon23:c.3880-2A>T;NM_001281739:exon19:c.3304-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3355-2A>T;ENST00000445677:exon19:c.3241-2A>T;ENST00000359247:exon19:c.3304-2A>T;ENST00000590592:exon23:c.3880-2A>T;ENST00000591635:exon12:c.943-2A>T;ENST00000592930:exon13:c.2636-2A>T;ENST00000592128:exon5:c.292-2A>T;ENST00000585579:exon4:c.405-2A>T)	.	.	0.999908539125455	0.884
18	34323994	G	A	18	36744031	y	y	splicing	FHOD3(NM_025135:exon20:c.3355-1G>A;NM_001281740:exon23:c.3880-1G>A;NM_001281739:exon19:c.3304-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3355-1G>A;ENST00000445677:exon19:c.3241-1G>A;ENST00000359247:exon19:c.3304-1G>A;ENST00000590592:exon23:c.3880-1G>A;ENST00000591635:exon12:c.943-1G>A;ENST00000592930:exon13:c.2636-1G>A;ENST00000592128:exon5:c.292-1G>A;ENST00000585579:exon4:c.405-1G>A)	.	.	0.999974043497117	0.888
18	34323994	G	C	18	36744031	y	y	splicing	FHOD3(NM_025135:exon20:c.3355-1G>C;NM_001281740:exon23:c.3880-1G>C;NM_001281739:exon19:c.3304-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3355-1G>C;ENST00000445677:exon19:c.3241-1G>C;ENST00000359247:exon19:c.3304-1G>C;ENST00000590592:exon23:c.3880-1G>C;ENST00000591635:exon12:c.943-1G>C;ENST00000592930:exon13:c.2636-1G>C;ENST00000592128:exon5:c.292-1G>C;ENST00000585579:exon4:c.405-1G>C)	.	.	0.999974043497117	0.888
18	34323994	G	T	18	36744031	y	y	splicing	FHOD3(NM_025135:exon20:c.3355-1G>T;NM_001281740:exon23:c.3880-1G>T;NM_001281739:exon19:c.3304-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3355-1G>T;ENST00000445677:exon19:c.3241-1G>T;ENST00000359247:exon19:c.3304-1G>T;ENST00000590592:exon23:c.3880-1G>T;ENST00000591635:exon12:c.943-1G>T;ENST00000592930:exon13:c.2636-1G>T;ENST00000592128:exon5:c.292-1G>T;ENST00000585579:exon4:c.405-1G>T)	.	.	0.999974043497117	0.888
18	34323995	G	A	18	36744032	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.G3355A:p.A1119T;FHOD3:NM_001281740:exon23:c.G3880A:p.A1294T;FHOD3:NM_001281739:exon19:c.G3304A:p.A1102T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.G3304A:p.A1102T;ENSG00000134775:ENST00000257209:exon20:c.G3355A:p.A1119T;ENSG00000134775:ENST00000591635:exon12:c.G943A:p.A315T;ENSG00000134775:ENST00000590592:exon23:c.G3880A:p.A1294T;ENSG00000134775:ENST00000445677:exon19:c.G3241A:p.A1081T;ENSG00000134775:ENST00000592128:exon5:c.G292A:p.A98T;	0.998671883810616	0.934
18	34323995	G	C	18	36744032	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.G3355C:p.A1119P;FHOD3:NM_001281740:exon23:c.G3880C:p.A1294P;FHOD3:NM_001281739:exon19:c.G3304C:p.A1102P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.G3304C:p.A1102P;ENSG00000134775:ENST00000257209:exon20:c.G3355C:p.A1119P;ENSG00000134775:ENST00000591635:exon12:c.G943C:p.A315P;ENSG00000134775:ENST00000590592:exon23:c.G3880C:p.A1294P;ENSG00000134775:ENST00000445677:exon19:c.G3241C:p.A1081P;ENSG00000134775:ENST00000592128:exon5:c.G292C:p.A98P;	0.999240363832855	0.906
18	34323995	G	T	18	36744032	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.G3355T:p.A1119S;FHOD3:NM_001281740:exon23:c.G3880T:p.A1294S;FHOD3:NM_001281739:exon19:c.G3304T:p.A1102S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.G3304T:p.A1102S;ENSG00000134775:ENST00000257209:exon20:c.G3355T:p.A1119S;ENSG00000134775:ENST00000591635:exon12:c.G943T:p.A315S;ENSG00000134775:ENST00000590592:exon23:c.G3880T:p.A1294S;ENSG00000134775:ENST00000445677:exon19:c.G3241T:p.A1081S;ENSG00000134775:ENST00000592128:exon5:c.G292T:p.A98S;	0.999656155235122	0.908
18	34323996	C	A	18	36744033	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.C3356A:p.A1119D;FHOD3:NM_001281740:exon23:c.C3881A:p.A1294D;FHOD3:NM_001281739:exon19:c.C3305A:p.A1102D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.C3305A:p.A1102D;ENSG00000134775:ENST00000257209:exon20:c.C3356A:p.A1119D;ENSG00000134775:ENST00000591635:exon12:c.C944A:p.A315D;ENSG00000134775:ENST00000590592:exon23:c.C3881A:p.A1294D;ENSG00000134775:ENST00000445677:exon19:c.C3242A:p.A1081D;ENSG00000134775:ENST00000592128:exon5:c.C293A:p.A98D;	0.973794099060767	0.754
18	34323996	C	G	18	36744033	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.C3356G:p.A1119G;FHOD3:NM_001281740:exon23:c.C3881G:p.A1294G;FHOD3:NM_001281739:exon19:c.C3305G:p.A1102G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.C3305G:p.A1102G;ENSG00000134775:ENST00000257209:exon20:c.C3356G:p.A1119G;ENSG00000134775:ENST00000591635:exon12:c.C944G:p.A315G;ENSG00000134775:ENST00000590592:exon23:c.C3881G:p.A1294G;ENSG00000134775:ENST00000445677:exon19:c.C3242G:p.A1081G;ENSG00000134775:ENST00000592128:exon5:c.C293G:p.A98G;	0.958552567514776	0.764
18	34323996	C	T	18	36744033	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.C3356T:p.A1119V;FHOD3:NM_001281740:exon23:c.C3881T:p.A1294V;FHOD3:NM_001281739:exon19:c.C3305T:p.A1102V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.C3305T:p.A1102V;ENSG00000134775:ENST00000257209:exon20:c.C3356T:p.A1119V;ENSG00000134775:ENST00000591635:exon12:c.C944T:p.A315V;ENSG00000134775:ENST00000590592:exon23:c.C3881T:p.A1294V;ENSG00000134775:ENST00000445677:exon19:c.C3242T:p.A1081V;ENSG00000134775:ENST00000592128:exon5:c.C293T:p.A98V;	0.978820133833005	0.8
18	34324154	A	C	18	36744191	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.A3514C:p.K1172Q;FHOD3:NM_001281740:exon23:c.A4039C:p.K1347Q;FHOD3:NM_001281739:exon19:c.A3463C:p.K1155Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.A3463C:p.K1155Q;ENSG00000134775:ENST00000257209:exon20:c.A3514C:p.K1172Q;ENSG00000134775:ENST00000591635:exon12:c.A1102C:p.K368Q;ENSG00000134775:ENST00000590592:exon23:c.A4039C:p.K1347Q;ENSG00000134775:ENST00000445677:exon19:c.A3400C:p.K1134Q;ENSG00000134775:ENST00000592128:exon5:c.A451C:p.K151Q;	0.428862817444925	0.59
18	34324154	A	G	18	36744191	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.A3514G:p.K1172E;FHOD3:NM_001281740:exon23:c.A4039G:p.K1347E;FHOD3:NM_001281739:exon19:c.A3463G:p.K1155E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.A3463G:p.K1155E;ENSG00000134775:ENST00000257209:exon20:c.A3514G:p.K1172E;ENSG00000134775:ENST00000591635:exon12:c.A1102G:p.K368E;ENSG00000134775:ENST00000590592:exon23:c.A4039G:p.K1347E;ENSG00000134775:ENST00000445677:exon19:c.A3400G:p.K1134E;ENSG00000134775:ENST00000592128:exon5:c.A451G:p.K151E;	0.0739691959793462	0.336
18	34324154	A	T	18	36744191	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon20:c.A3514T:p.K1172X;FHOD3:NM_001281740:exon23:c.A4039T:p.K1347X;FHOD3:NM_001281739:exon19:c.A3463T:p.K1155X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon19:c.A3463T:p.K1155X;ENSG00000134775:ENST00000257209:exon20:c.A3514T:p.K1172X;ENSG00000134775:ENST00000591635:exon12:c.A1102T:p.K368X;ENSG00000134775:ENST00000590592:exon23:c.A4039T:p.K1347X;ENSG00000134775:ENST00000445677:exon19:c.A3400T:p.K1134X;ENSG00000134775:ENST00000592128:exon5:c.A451T:p.K151X;	0.886688019034541	0.61
18	34324155	A	C	18	36744192	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.A3515C:p.K1172T;FHOD3:NM_001281740:exon23:c.A4040C:p.K1347T;FHOD3:NM_001281739:exon19:c.A3464C:p.K1155T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.A3464C:p.K1155T;ENSG00000134775:ENST00000257209:exon20:c.A3515C:p.K1172T;ENSG00000134775:ENST00000591635:exon12:c.A1103C:p.K368T;ENSG00000134775:ENST00000590592:exon23:c.A4040C:p.K1347T;ENSG00000134775:ENST00000445677:exon19:c.A3401C:p.K1134T;ENSG00000134775:ENST00000592128:exon5:c.A452C:p.K151T;	0.975962122326812	0.876
18	34324155	A	G	18	36744192	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.A3515G:p.K1172R;FHOD3:NM_001281740:exon23:c.A4040G:p.K1347R;FHOD3:NM_001281739:exon19:c.A3464G:p.K1155R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.A3464G:p.K1155R;ENSG00000134775:ENST00000257209:exon20:c.A3515G:p.K1172R;ENSG00000134775:ENST00000591635:exon12:c.A1103G:p.K368R;ENSG00000134775:ENST00000590592:exon23:c.A4040G:p.K1347R;ENSG00000134775:ENST00000445677:exon19:c.A3401G:p.K1134R;ENSG00000134775:ENST00000592128:exon5:c.A452G:p.K151R;	0.986154494104899	0.908
18	34324155	A	T	18	36744192	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.A3515T:p.K1172M;FHOD3:NM_001281740:exon23:c.A4040T:p.K1347M;FHOD3:NM_001281739:exon19:c.A3464T:p.K1155M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.A3464T:p.K1155M;ENSG00000134775:ENST00000257209:exon20:c.A3515T:p.K1172M;ENSG00000134775:ENST00000591635:exon12:c.A1103T:p.K368M;ENSG00000134775:ENST00000590592:exon23:c.A4040T:p.K1347M;ENSG00000134775:ENST00000445677:exon19:c.A3401T:p.K1134M;ENSG00000134775:ENST00000592128:exon5:c.A452T:p.K151M;	0.989947427259762	0.902
18	34324156	G	A	18	36744193	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon20:c.G3516A:p.K1172K;FHOD3:NM_001281740:exon23:c.G4041A:p.K1347K;FHOD3:NM_001281739:exon19:c.G3465A:p.K1155K;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.G3465A:p.K1155K;ENSG00000134775:ENST00000257209:exon20:c.G3516A:p.K1172K;ENSG00000134775:ENST00000591635:exon12:c.G1104A:p.K368K;ENSG00000134775:ENST00000590592:exon23:c.G4041A:p.K1347K;ENSG00000134775:ENST00000445677:exon19:c.G3402A:p.K1134K;ENSG00000134775:ENST00000592128:exon5:c.G453A:p.K151K;	0.973810290065259	0.826
18	34324156	G	C	18	36744193	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.G3516C:p.K1172N;FHOD3:NM_001281740:exon23:c.G4041C:p.K1347N;FHOD3:NM_001281739:exon19:c.G3465C:p.K1155N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.G3465C:p.K1155N;ENSG00000134775:ENST00000257209:exon20:c.G3516C:p.K1172N;ENSG00000134775:ENST00000591635:exon12:c.G1104C:p.K368N;ENSG00000134775:ENST00000590592:exon23:c.G4041C:p.K1347N;ENSG00000134775:ENST00000445677:exon19:c.G3402C:p.K1134N;ENSG00000134775:ENST00000592128:exon5:c.G453C:p.K151N;	0.999751001493442	0.98
18	34324156	G	T	18	36744193	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon20:c.G3516T:p.K1172N;FHOD3:NM_001281740:exon23:c.G4041T:p.K1347N;FHOD3:NM_001281739:exon19:c.G3465T:p.K1155N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon19:c.G3465T:p.K1155N;ENSG00000134775:ENST00000257209:exon20:c.G3516T:p.K1172N;ENSG00000134775:ENST00000591635:exon12:c.G1104T:p.K368N;ENSG00000134775:ENST00000590592:exon23:c.G4041T:p.K1347N;ENSG00000134775:ENST00000445677:exon19:c.G3402T:p.K1134N;ENSG00000134775:ENST00000592128:exon5:c.G453T:p.K151N;	0.999804802623471	0.976
18	34324157	G	A	18	36744194	y	y	splicing	FHOD3(NM_025135:exon20:c.3516+1G>A;NM_001281740:exon23:c.4041+1G>A;NM_001281739:exon19:c.3465+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3516+1G>A;ENST00000445677:exon19:c.3402+1G>A;ENST00000359247:exon19:c.3465+1G>A;ENST00000590592:exon23:c.4041+1G>A;ENST00000591635:exon12:c.1104+1G>A;ENST00000592930:exon13:c.2797+1G>A;ENST00000592128:exon5:c.453+1G>A;ENST00000585579:exon4:c.566+1G>A)	.	.	0.999986675681007	0.934
18	34324157	G	C	18	36744194	y	y	splicing	FHOD3(NM_025135:exon20:c.3516+1G>C;NM_001281740:exon23:c.4041+1G>C;NM_001281739:exon19:c.3465+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3516+1G>C;ENST00000445677:exon19:c.3402+1G>C;ENST00000359247:exon19:c.3465+1G>C;ENST00000590592:exon23:c.4041+1G>C;ENST00000591635:exon12:c.1104+1G>C;ENST00000592930:exon13:c.2797+1G>C;ENST00000592128:exon5:c.453+1G>C;ENST00000585579:exon4:c.566+1G>C)	.	.	0.999986675681007	0.934
18	34324157	G	T	18	36744194	y	y	splicing	FHOD3(NM_025135:exon20:c.3516+1G>T;NM_001281740:exon23:c.4041+1G>T;NM_001281739:exon19:c.3465+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3516+1G>T;ENST00000445677:exon19:c.3402+1G>T;ENST00000359247:exon19:c.3465+1G>T;ENST00000590592:exon23:c.4041+1G>T;ENST00000591635:exon12:c.1104+1G>T;ENST00000592930:exon13:c.2797+1G>T;ENST00000592128:exon5:c.453+1G>T;ENST00000585579:exon4:c.566+1G>T)	.	.	0.999986675681007	0.934
18	34324158	T	A	18	36744195	y	y	splicing	FHOD3(NM_025135:exon20:c.3516+2T>A;NM_001281740:exon23:c.4041+2T>A;NM_001281739:exon19:c.3465+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3516+2T>A;ENST00000445677:exon19:c.3402+2T>A;ENST00000359247:exon19:c.3465+2T>A;ENST00000590592:exon23:c.4041+2T>A;ENST00000591635:exon12:c.1104+2T>A;ENST00000592930:exon13:c.2797+2T>A;ENST00000592128:exon5:c.453+2T>A;ENST00000585579:exon4:c.566+2T>A)	.	.	0.999989917668626	0.928
18	34324158	T	C	18	36744195	y	y	splicing	FHOD3(NM_025135:exon20:c.3516+2T>C;NM_001281740:exon23:c.4041+2T>C;NM_001281739:exon19:c.3465+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3516+2T>C;ENST00000445677:exon19:c.3402+2T>C;ENST00000359247:exon19:c.3465+2T>C;ENST00000590592:exon23:c.4041+2T>C;ENST00000591635:exon12:c.1104+2T>C;ENST00000592930:exon13:c.2797+2T>C;ENST00000592128:exon5:c.453+2T>C;ENST00000585579:exon4:c.566+2T>C)	.	.	0.985266808656705	0.592
18	34324158	T	G	18	36744195	y	y	splicing	FHOD3(NM_025135:exon20:c.3516+2T>G;NM_001281740:exon23:c.4041+2T>G;NM_001281739:exon19:c.3465+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon20:c.3516+2T>G;ENST00000445677:exon19:c.3402+2T>G;ENST00000359247:exon19:c.3465+2T>G;ENST00000590592:exon23:c.4041+2T>G;ENST00000591635:exon12:c.1104+2T>G;ENST00000592930:exon13:c.2797+2T>G;ENST00000592128:exon5:c.453+2T>G;ENST00000585579:exon4:c.566+2T>G)	.	.	0.999989917668626	0.926
18	34324159	A	C	18	36744196	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.987784257263314	0.74
18	34324159	A	G	18	36744196	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.728536530208762	0.682
18	34324159	A	T	18	36744196	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.918741728251022	0.484
18	34324160	T	A	18	36744197	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.64841747486592E-5	0.022
18	34324160	T	C	18	36744197	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.1188445857785E-5	0.0
18	34324160	T	G	18	36744197	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.77845029327358E-6	0.0
18	34324161	G	A	18	36744198	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.920212213212107	0.57
18	34324161	G	C	18	36744198	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.880541477123391	0.65
18	34324161	G	T	18	36744198	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.917099898446376	0.644
18	34324162	T	A	18	36744199	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0105073458815675	0.138
18	34324162	T	C	18	36744199	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0149947270753689	0.168
18	34324162	T	G	18	36744199	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00312766571735671	0.114
18	34324163	C	A	18	36744200	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.33132576485227E-5	0.0
18	34324163	C	G	18	36744200	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.70400608710468E-5	0.0
18	34324163	C	T	18	36744200	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.70400608710468E-5	0.0
18	34324164	T	A	18	36744201	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.60387029807596E-5	0.024
18	34324164	T	C	18	36744201	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.85892088628007E-5	0.02
18	34324164	T	G	18	36744201	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.93579658256913E-5	0.018
18	34326896	T	A	18	36746933	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0384424200038763	0.292
18	34326896	T	C	18	36746933	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.65586134813507E-4	0.004
18	34326896	T	G	18	36746933	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.036311879707591	0.32
18	34326897	C	A	18	36746934	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00235804243219793	0.102
18	34326897	C	G	18	36746934	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.97060350374153E-4	0.05
18	34326897	C	T	18	36746934	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.35783089115575E-5	0.002
18	34326898	T	A	18	36746935	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999940576722481	0.962
18	34326898	T	C	18	36746935	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00217989463843746	0.098
18	34326898	T	G	18	36746935	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.770449704721549	0.614
18	34326899	G	A	18	36746936	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00178517577773161	0.01
18	34326899	G	C	18	36746936	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.03748472834905E-4	0.006
18	34326899	G	T	18	36746936	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.82787583501775E-4	0.004
18	34326900	A	C	18	36746937	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00198523328418216	0.024
18	34326900	A	G	18	36746937	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0077523043853227	0.03
18	34326900	A	T	18	36746937	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00518315018612313	0.034
18	34326901	T	A	18	36746938	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.7205321622516	0.43
18	34326901	T	C	18	36746938	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00183561303630821	0.04
18	34326901	T	G	18	36746938	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999882081484923	0.954
18	34326902	T	A	18	36746939	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.985071220562279	0.82
18	34326902	T	C	18	36746939	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0019985724196777	0.068
18	34326902	T	G	18	36746939	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.959476200549438	0.798
18	34326903	T	A	18	36746940	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.957744646284241	0.676
18	34326903	T	C	18	36746940	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0345541456043464	0.252
18	34326903	T	G	18	36746940	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.945294759299283	0.624
18	34326904	T	A	18	36746941	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0119277589014848	0.08
18	34326904	T	C	18	36746941	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0081747274448006	0.08
18	34326904	T	G	18	36746941	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0115231366709581	0.072
18	34326905	C	A	18	36746942	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.843234195046223	0.6
18	34326905	C	G	18	36746942	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999314599957256	0.938
18	34326905	C	T	18	36746942	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0910399468784038	0.146
18	34326906	A	C	18	36746943	y	y	splicing	FHOD3(NM_025135:exon21:c.3517-2A>C;NM_001281740:exon24:c.4042-2A>C;NM_001281739:exon20:c.3466-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3517-2A>C;ENST00000445677:exon20:c.3403-2A>C;ENST00000359247:exon20:c.3466-2A>C;ENST00000590592:exon24:c.4042-2A>C;ENST00000591635:exon13:c.1105-2A>C;ENST00000592930:exon14:c.2798-2A>C;ENST00000592128:exon6:c.454-2A>C;ENST00000585579:exon5:c.567-2A>C)	.	.	0.999993519952936	0.93
18	34326906	A	G	18	36746943	y	y	splicing	FHOD3(NM_025135:exon21:c.3517-2A>G;NM_001281740:exon24:c.4042-2A>G;NM_001281739:exon20:c.3466-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3517-2A>G;ENST00000445677:exon20:c.3403-2A>G;ENST00000359247:exon20:c.3466-2A>G;ENST00000590592:exon24:c.4042-2A>G;ENST00000591635:exon13:c.1105-2A>G;ENST00000592930:exon14:c.2798-2A>G;ENST00000592128:exon6:c.454-2A>G;ENST00000585579:exon5:c.567-2A>G)	.	.	0.999993519952936	0.93
18	34326906	A	T	18	36746943	y	y	splicing	FHOD3(NM_025135:exon21:c.3517-2A>T;NM_001281740:exon24:c.4042-2A>T;NM_001281739:exon20:c.3466-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3517-2A>T;ENST00000445677:exon20:c.3403-2A>T;ENST00000359247:exon20:c.3466-2A>T;ENST00000590592:exon24:c.4042-2A>T;ENST00000591635:exon13:c.1105-2A>T;ENST00000592930:exon14:c.2798-2A>T;ENST00000592128:exon6:c.454-2A>T;ENST00000585579:exon5:c.567-2A>T)	.	.	0.999993519952936	0.93
18	34326907	G	A	18	36746944	y	y	splicing	FHOD3(NM_025135:exon21:c.3517-1G>A;NM_001281740:exon24:c.4042-1G>A;NM_001281739:exon20:c.3466-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3517-1G>A;ENST00000445677:exon20:c.3403-1G>A;ENST00000359247:exon20:c.3466-1G>A;ENST00000590592:exon24:c.4042-1G>A;ENST00000591635:exon13:c.1105-1G>A;ENST00000592930:exon14:c.2798-1G>A;ENST00000592128:exon6:c.454-1G>A;ENST00000585579:exon5:c.567-1G>A)	.	.	0.999988247793601	0.932
18	34326907	G	C	18	36746944	y	y	splicing	FHOD3(NM_025135:exon21:c.3517-1G>C;NM_001281740:exon24:c.4042-1G>C;NM_001281739:exon20:c.3466-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3517-1G>C;ENST00000445677:exon20:c.3403-1G>C;ENST00000359247:exon20:c.3466-1G>C;ENST00000590592:exon24:c.4042-1G>C;ENST00000591635:exon13:c.1105-1G>C;ENST00000592930:exon14:c.2798-1G>C;ENST00000592128:exon6:c.454-1G>C;ENST00000585579:exon5:c.567-1G>C)	.	.	0.999988247793601	0.932
18	34326907	G	T	18	36746944	y	y	splicing	FHOD3(NM_025135:exon21:c.3517-1G>T;NM_001281740:exon24:c.4042-1G>T;NM_001281739:exon20:c.3466-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3517-1G>T;ENST00000445677:exon20:c.3403-1G>T;ENST00000359247:exon20:c.3466-1G>T;ENST00000590592:exon24:c.4042-1G>T;ENST00000591635:exon13:c.1105-1G>T;ENST00000592930:exon14:c.2798-1G>T;ENST00000592128:exon6:c.454-1G>T;ENST00000585579:exon5:c.567-1G>T)	.	.	0.999988247793601	0.932
18	34326908	G	A	18	36746945	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.G3517A:p.V1173I;FHOD3:NM_001281740:exon24:c.G4042A:p.V1348I;FHOD3:NM_001281739:exon20:c.G3466A:p.V1156I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.G3466A:p.V1156I;ENSG00000134775:ENST00000257209:exon21:c.G3517A:p.V1173I;ENSG00000134775:ENST00000591635:exon13:c.G1105A:p.V369I;ENSG00000134775:ENST00000590592:exon24:c.G4042A:p.V1348I;ENSG00000134775:ENST00000445677:exon20:c.G3403A:p.V1135I;ENSG00000134775:ENST00000592128:exon6:c.G454A:p.V152I;	0.994975795586871	0.796
18	34326908	G	C	18	36746945	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.G3517C:p.V1173L;FHOD3:NM_001281740:exon24:c.G4042C:p.V1348L;FHOD3:NM_001281739:exon20:c.G3466C:p.V1156L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.G3466C:p.V1156L;ENSG00000134775:ENST00000257209:exon21:c.G3517C:p.V1173L;ENSG00000134775:ENST00000591635:exon13:c.G1105C:p.V369L;ENSG00000134775:ENST00000590592:exon24:c.G4042C:p.V1348L;ENSG00000134775:ENST00000445677:exon20:c.G3403C:p.V1135L;ENSG00000134775:ENST00000592128:exon6:c.G454C:p.V152L;	0.999715442970904	0.948
18	34326908	G	T	18	36746945	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.G3517T:p.V1173F;FHOD3:NM_001281740:exon24:c.G4042T:p.V1348F;FHOD3:NM_001281739:exon20:c.G3466T:p.V1156F;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.G3466T:p.V1156F;ENSG00000134775:ENST00000257209:exon21:c.G3517T:p.V1173F;ENSG00000134775:ENST00000591635:exon13:c.G1105T:p.V369F;ENSG00000134775:ENST00000590592:exon24:c.G4042T:p.V1348F;ENSG00000134775:ENST00000445677:exon20:c.G3403T:p.V1135F;ENSG00000134775:ENST00000592128:exon6:c.G454T:p.V152F;	0.999761037528909	0.948
18	34326909	T	A	18	36746946	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.T3518A:p.V1173D;FHOD3:NM_001281740:exon24:c.T4043A:p.V1348D;FHOD3:NM_001281739:exon20:c.T3467A:p.V1156D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.T3467A:p.V1156D;ENSG00000134775:ENST00000257209:exon21:c.T3518A:p.V1173D;ENSG00000134775:ENST00000591635:exon13:c.T1106A:p.V369D;ENSG00000134775:ENST00000590592:exon24:c.T4043A:p.V1348D;ENSG00000134775:ENST00000445677:exon20:c.T3404A:p.V1135D;ENSG00000134775:ENST00000592128:exon6:c.T455A:p.V152D;	0.29458487087129	0.434
18	34326909	T	C	18	36746946	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.T3518C:p.V1173A;FHOD3:NM_001281740:exon24:c.T4043C:p.V1348A;FHOD3:NM_001281739:exon20:c.T3467C:p.V1156A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.T3467C:p.V1156A;ENSG00000134775:ENST00000257209:exon21:c.T3518C:p.V1173A;ENSG00000134775:ENST00000591635:exon13:c.T1106C:p.V369A;ENSG00000134775:ENST00000590592:exon24:c.T4043C:p.V1348A;ENSG00000134775:ENST00000445677:exon20:c.T3404C:p.V1135A;ENSG00000134775:ENST00000592128:exon6:c.T455C:p.V152A;	0.225137060152738	0.432
18	34326909	T	G	18	36746946	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.T3518G:p.V1173G;FHOD3:NM_001281740:exon24:c.T4043G:p.V1348G;FHOD3:NM_001281739:exon20:c.T3467G:p.V1156G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.T3467G:p.V1156G;ENSG00000134775:ENST00000257209:exon21:c.T3518G:p.V1173G;ENSG00000134775:ENST00000591635:exon13:c.T1106G:p.V369G;ENSG00000134775:ENST00000590592:exon24:c.T4043G:p.V1348G;ENSG00000134775:ENST00000445677:exon20:c.T3404G:p.V1135G;ENSG00000134775:ENST00000592128:exon6:c.T455G:p.V152G;	0.184266403659951	0.44
18	34327096	C	A	18	36747133	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.C3705A:p.N1235K;FHOD3:NM_001281740:exon24:c.C4230A:p.N1410K;FHOD3:NM_001281739:exon20:c.C3654A:p.N1218K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.C3654A:p.N1218K;ENSG00000134775:ENST00000257209:exon21:c.C3705A:p.N1235K;ENSG00000134775:ENST00000591635:exon13:c.C1293A:p.N431K;ENSG00000134775:ENST00000590592:exon24:c.C4230A:p.N1410K;ENSG00000134775:ENST00000445677:exon20:c.C3591A:p.N1197K;ENSG00000134775:ENST00000592128:exon6:c.C642A:p.N214K;	0.0130978318961389	0.324
18	34327096	C	G	18	36747133	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.C3705G:p.N1235K;FHOD3:NM_001281740:exon24:c.C4230G:p.N1410K;FHOD3:NM_001281739:exon20:c.C3654G:p.N1218K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.C3654G:p.N1218K;ENSG00000134775:ENST00000257209:exon21:c.C3705G:p.N1235K;ENSG00000134775:ENST00000591635:exon13:c.C1293G:p.N431K;ENSG00000134775:ENST00000590592:exon24:c.C4230G:p.N1410K;ENSG00000134775:ENST00000445677:exon20:c.C3591G:p.N1197K;ENSG00000134775:ENST00000592128:exon6:c.C642G:p.N214K;	0.00482413723645198	0.226
18	34327096	C	T	18	36747133	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon21:c.C3705T:p.N1235N;FHOD3:NM_001281740:exon24:c.C4230T:p.N1410N;FHOD3:NM_001281739:exon20:c.C3654T:p.N1218N;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.C3654T:p.N1218N;ENSG00000134775:ENST00000257209:exon21:c.C3705T:p.N1235N;ENSG00000134775:ENST00000591635:exon13:c.C1293T:p.N431N;ENSG00000134775:ENST00000590592:exon24:c.C4230T:p.N1410N;ENSG00000134775:ENST00000445677:exon20:c.C3591T:p.N1197N;ENSG00000134775:ENST00000592128:exon6:c.C642T:p.N214N;	0.027621640819347	0.212
18	34327097	A	C	18	36747134	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon21:c.A3706C:p.R1236R;FHOD3:NM_001281740:exon24:c.A4231C:p.R1411R;FHOD3:NM_001281739:exon20:c.A3655C:p.R1219R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.A3655C:p.R1219R;ENSG00000134775:ENST00000257209:exon21:c.A3706C:p.R1236R;ENSG00000134775:ENST00000591635:exon13:c.A1294C:p.R432R;ENSG00000134775:ENST00000590592:exon24:c.A4231C:p.R1411R;ENSG00000134775:ENST00000445677:exon20:c.A3592C:p.R1198R;ENSG00000134775:ENST00000592128:exon6:c.A643C:p.R215R;	0.0710568628930601	0.386
18	34327097	A	G	18	36747134	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.A3706G:p.R1236G;FHOD3:NM_001281740:exon24:c.A4231G:p.R1411G;FHOD3:NM_001281739:exon20:c.A3655G:p.R1219G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.A3655G:p.R1219G;ENSG00000134775:ENST00000257209:exon21:c.A3706G:p.R1236G;ENSG00000134775:ENST00000591635:exon13:c.A1294G:p.R432G;ENSG00000134775:ENST00000590592:exon24:c.A4231G:p.R1411G;ENSG00000134775:ENST00000445677:exon20:c.A3592G:p.R1198G;ENSG00000134775:ENST00000592128:exon6:c.A643G:p.R215G;	0.307087536026783	0.406
18	34327097	A	T	18	36747134	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon21:c.A3706T:p.R1236X;FHOD3:NM_001281740:exon24:c.A4231T:p.R1411X;FHOD3:NM_001281739:exon20:c.A3655T:p.R1219X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon20:c.A3655T:p.R1219X;ENSG00000134775:ENST00000257209:exon21:c.A3706T:p.R1236X;ENSG00000134775:ENST00000591635:exon13:c.A1294T:p.R432X;ENSG00000134775:ENST00000590592:exon24:c.A4231T:p.R1411X;ENSG00000134775:ENST00000445677:exon20:c.A3592T:p.R1198X;ENSG00000134775:ENST00000592128:exon6:c.A643T:p.R215X;	0.29803029856383	0.438
18	34327098	G	A	18	36747135	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.G3707A:p.R1236K;FHOD3:NM_001281740:exon24:c.G4232A:p.R1411K;FHOD3:NM_001281739:exon20:c.G3656A:p.R1219K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.G3656A:p.R1219K;ENSG00000134775:ENST00000257209:exon21:c.G3707A:p.R1236K;ENSG00000134775:ENST00000591635:exon13:c.G1295A:p.R432K;ENSG00000134775:ENST00000590592:exon24:c.G4232A:p.R1411K;ENSG00000134775:ENST00000445677:exon20:c.G3593A:p.R1198K;ENSG00000134775:ENST00000592128:exon6:c.G644A:p.R215K;	0.998816313013437	0.87
18	34327098	G	C	18	36747135	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.G3707C:p.R1236T;FHOD3:NM_001281740:exon24:c.G4232C:p.R1411T;FHOD3:NM_001281739:exon20:c.G3656C:p.R1219T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.G3656C:p.R1219T;ENSG00000134775:ENST00000257209:exon21:c.G3707C:p.R1236T;ENSG00000134775:ENST00000591635:exon13:c.G1295C:p.R432T;ENSG00000134775:ENST00000590592:exon24:c.G4232C:p.R1411T;ENSG00000134775:ENST00000445677:exon20:c.G3593C:p.R1198T;ENSG00000134775:ENST00000592128:exon6:c.G644C:p.R215T;	0.999303535745889	0.878
18	34327098	G	T	18	36747135	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon21:c.G3707T:p.R1236I;FHOD3:NM_001281740:exon24:c.G4232T:p.R1411I;FHOD3:NM_001281739:exon20:c.G3656T:p.R1219I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon20:c.G3656T:p.R1219I;ENSG00000134775:ENST00000257209:exon21:c.G3707T:p.R1236I;ENSG00000134775:ENST00000591635:exon13:c.G1295T:p.R432I;ENSG00000134775:ENST00000590592:exon24:c.G4232T:p.R1411I;ENSG00000134775:ENST00000445677:exon20:c.G3593T:p.R1198I;ENSG00000134775:ENST00000592128:exon6:c.G644T:p.R215I;	0.999402935052417	0.788
18	34327099	G	A	18	36747136	y	y	splicing	FHOD3(NM_025135:exon21:c.3707+1G>A;NM_001281740:exon24:c.4232+1G>A;NM_001281739:exon20:c.3656+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3707+1G>A;ENST00000445677:exon20:c.3593+1G>A;ENST00000359247:exon20:c.3656+1G>A;ENST00000590592:exon24:c.4232+1G>A;ENST00000591635:exon13:c.1295+1G>A;ENST00000592930:exon14:c.2988+1G>A;ENST00000592128:exon6:c.644+1G>A;ENST00000585579:exon5:c.757+1G>A)	.	.	0.999988247793601	0.924
18	34327099	G	C	18	36747136	y	y	splicing	FHOD3(NM_025135:exon21:c.3707+1G>C;NM_001281740:exon24:c.4232+1G>C;NM_001281739:exon20:c.3656+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3707+1G>C;ENST00000445677:exon20:c.3593+1G>C;ENST00000359247:exon20:c.3656+1G>C;ENST00000590592:exon24:c.4232+1G>C;ENST00000591635:exon13:c.1295+1G>C;ENST00000592930:exon14:c.2988+1G>C;ENST00000592128:exon6:c.644+1G>C;ENST00000585579:exon5:c.757+1G>C)	.	.	0.999988247793601	0.924
18	34327099	G	T	18	36747136	y	y	splicing	FHOD3(NM_025135:exon21:c.3707+1G>T;NM_001281740:exon24:c.4232+1G>T;NM_001281739:exon20:c.3656+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3707+1G>T;ENST00000445677:exon20:c.3593+1G>T;ENST00000359247:exon20:c.3656+1G>T;ENST00000590592:exon24:c.4232+1G>T;ENST00000591635:exon13:c.1295+1G>T;ENST00000592930:exon14:c.2988+1G>T;ENST00000592128:exon6:c.644+1G>T;ENST00000585579:exon5:c.757+1G>T)	.	.	0.999988247793601	0.924
18	34327100	T	A	18	36747137	y	y	splicing	FHOD3(NM_025135:exon21:c.3707+2T>A;NM_001281740:exon24:c.4232+2T>A;NM_001281739:exon20:c.3656+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3707+2T>A;ENST00000445677:exon20:c.3593+2T>A;ENST00000359247:exon20:c.3656+2T>A;ENST00000590592:exon24:c.4232+2T>A;ENST00000591635:exon13:c.1295+2T>A;ENST00000592930:exon14:c.2988+2T>A;ENST00000592128:exon6:c.644+2T>A;ENST00000585579:exon5:c.757+2T>A)	.	.	0.999992446697775	0.93
18	34327100	T	C	18	36747137	y	y	splicing	FHOD3(NM_025135:exon21:c.3707+2T>C;NM_001281740:exon24:c.4232+2T>C;NM_001281739:exon20:c.3656+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3707+2T>C;ENST00000445677:exon20:c.3593+2T>C;ENST00000359247:exon20:c.3656+2T>C;ENST00000590592:exon24:c.4232+2T>C;ENST00000591635:exon13:c.1295+2T>C;ENST00000592930:exon14:c.2988+2T>C;ENST00000592128:exon6:c.644+2T>C;ENST00000585579:exon5:c.757+2T>C)	.	.	0.993224249116124	0.622
18	34327100	T	G	18	36747137	y	y	splicing	FHOD3(NM_025135:exon21:c.3707+2T>G;NM_001281740:exon24:c.4232+2T>G;NM_001281739:exon20:c.3656+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon21:c.3707+2T>G;ENST00000445677:exon20:c.3593+2T>G;ENST00000359247:exon20:c.3656+2T>G;ENST00000590592:exon24:c.4232+2T>G;ENST00000591635:exon13:c.1295+2T>G;ENST00000592930:exon14:c.2988+2T>G;ENST00000592128:exon6:c.644+2T>G;ENST00000585579:exon5:c.757+2T>G)	.	.	0.999992446697775	0.93
18	34327101	A	C	18	36747138	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.635542231284821	0.612
18	34327101	A	G	18	36747138	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.68295791637584E-4	0.032
18	34327101	A	T	18	36747138	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.589865258047283	0.574
18	34327102	A	C	18	36747139	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0507334981355893	0.272
18	34327102	A	G	18	36747139	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0694554825520382	0.384
18	34327102	A	T	18	36747139	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0361384888586978	0.268
18	34327103	G	A	18	36747140	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.312093006520325	0.468
18	34327103	G	C	18	36747140	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.33790928324511	0.462
18	34327103	G	T	18	36747140	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.326739180662693	0.52
18	34327104	T	A	18	36747141	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00101382024183905	0.148
18	34327104	T	C	18	36747141	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00797405974336293	0.108
18	34327104	T	G	18	36747141	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.76513919401541E-4	0.092
18	34327105	G	A	18	36747142	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.13995499723005E-4	0.012
18	34327105	G	C	18	36747142	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.58610291944236E-4	0.022
18	34327105	G	T	18	36747142	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.13995499723005E-4	0.012
18	34327106	G	A	18	36747143	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.86678723866873E-4	0.016
18	34327106	G	C	18	36747143	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.3342307822418E-5	0.004
18	34327106	G	T	18	36747143	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.66614562265597E-4	0.004
18	34335070	T	A	18	36755107	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.4915551470032E-4	0.07
18	34335070	T	C	18	36755107	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.64423980285584E-4	0.006
18	34335070	T	G	18	36755107	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.10413520748804E-4	0.054
18	34335071	T	A	18	36755108	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.11972692186149E-4	0.164
18	34335071	T	C	18	36755108	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.6612373545693E-5	0.004
18	34335071	T	G	18	36755108	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.1771419966102E-4	0.046
18	34335072	T	A	18	36755109	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00637800337054015	0.132
18	34335072	T	C	18	36755109	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00375850271502795	0.056
18	34335072	T	G	18	36755109	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00307604373482541	0.142
18	34335073	T	A	18	36755110	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.57037738741316E-4	0.038
18	34335073	T	C	18	36755110	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.62713811884635E-5	0.008
18	34335073	T	G	18	36755110	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.70234989029208E-5	0.058
18	34335074	C	A	18	36755111	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.26798350833052E-4	0.04
18	34335074	C	G	18	36755111	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.39538715691695E-4	0.024
18	34335074	C	T	18	36755111	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.95163222238075E-4	0.002
18	34335075	C	A	18	36755112	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.1250193650162E-4	0.032
18	34335075	C	G	18	36755112	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.93807221505652E-4	0.034
18	34335075	C	T	18	36755112	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.00300603556202E-4	0.0
18	34335076	T	A	18	36755113	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.91223814334791E-4	0.07
18	34335076	T	C	18	36755113	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.65320179465609E-5	0.002
18	34335076	T	G	18	36755113	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.04586088272501E-4	0.212
18	34335077	T	A	18	36755114	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.947927593871878	0.682
18	34335077	T	C	18	36755114	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.82501989125729E-4	0.018
18	34335077	T	G	18	36755114	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.99523065603282E-4	0.1
18	34335078	G	A	18	36755115	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00132101991813768	0.034
18	34335078	G	C	18	36755115	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.0838957117486E-4	0.016
18	34335078	G	T	18	36755115	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00101964048899979	0.016
18	34335079	C	A	18	36755116	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998641239301909	0.792
18	34335079	C	G	18	36755116	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999983974977887	0.93
18	34335079	C	T	18	36755116	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.769444912121494	0.38
18	34335080	A	C	18	36755117	y	y	splicing	FHOD3(NM_025135:exon22:c.3708-2A>C;NM_001281740:exon25:c.4233-2A>C;NM_001281739:exon21:c.3657-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3708-2A>C;ENST00000445677:exon21:c.3594-2A>C;ENST00000359247:exon21:c.3657-2A>C;ENST00000590592:exon25:c.4233-2A>C;ENST00000591635:exon14:c.1296-2A>C;ENST00000592930:exon15:c.2989-2A>C;ENST00000592128:exon7:c.645-2A>C;ENST00000585579:exon6:c.758-2A>C)	.	.	0.999988247793601	0.93
18	34335080	A	G	18	36755117	y	y	splicing	FHOD3(NM_025135:exon22:c.3708-2A>G;NM_001281740:exon25:c.4233-2A>G;NM_001281739:exon21:c.3657-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3708-2A>G;ENST00000445677:exon21:c.3594-2A>G;ENST00000359247:exon21:c.3657-2A>G;ENST00000590592:exon25:c.4233-2A>G;ENST00000591635:exon14:c.1296-2A>G;ENST00000592930:exon15:c.2989-2A>G;ENST00000592128:exon7:c.645-2A>G;ENST00000585579:exon6:c.758-2A>G)	.	.	0.999988247793601	0.93
18	34335080	A	T	18	36755117	y	y	splicing	FHOD3(NM_025135:exon22:c.3708-2A>T;NM_001281740:exon25:c.4233-2A>T;NM_001281739:exon21:c.3657-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3708-2A>T;ENST00000445677:exon21:c.3594-2A>T;ENST00000359247:exon21:c.3657-2A>T;ENST00000590592:exon25:c.4233-2A>T;ENST00000591635:exon14:c.1296-2A>T;ENST00000592930:exon15:c.2989-2A>T;ENST00000592128:exon7:c.645-2A>T;ENST00000585579:exon6:c.758-2A>T)	.	.	0.999988247793601	0.93
18	34335081	G	A	18	36755118	y	y	splicing	FHOD3(NM_025135:exon22:c.3708-1G>A;NM_001281740:exon25:c.4233-1G>A;NM_001281739:exon21:c.3657-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3708-1G>A;ENST00000445677:exon21:c.3594-1G>A;ENST00000359247:exon21:c.3657-1G>A;ENST00000590592:exon25:c.4233-1G>A;ENST00000591635:exon14:c.1296-1G>A;ENST00000592930:exon15:c.2989-1G>A;ENST00000592128:exon7:c.645-1G>A;ENST00000585579:exon6:c.758-1G>A)	.	.	0.999990361384395	0.938
18	34335081	G	C	18	36755118	y	y	splicing	FHOD3(NM_025135:exon22:c.3708-1G>C;NM_001281740:exon25:c.4233-1G>C;NM_001281739:exon21:c.3657-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3708-1G>C;ENST00000445677:exon21:c.3594-1G>C;ENST00000359247:exon21:c.3657-1G>C;ENST00000590592:exon25:c.4233-1G>C;ENST00000591635:exon14:c.1296-1G>C;ENST00000592930:exon15:c.2989-1G>C;ENST00000592128:exon7:c.645-1G>C;ENST00000585579:exon6:c.758-1G>C)	.	.	0.999990361384395	0.938
18	34335081	G	T	18	36755118	y	y	splicing	FHOD3(NM_025135:exon22:c.3708-1G>T;NM_001281740:exon25:c.4233-1G>T;NM_001281739:exon21:c.3657-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3708-1G>T;ENST00000445677:exon21:c.3594-1G>T;ENST00000359247:exon21:c.3657-1G>T;ENST00000590592:exon25:c.4233-1G>T;ENST00000591635:exon14:c.1296-1G>T;ENST00000592930:exon15:c.2989-1G>T;ENST00000592128:exon7:c.645-1G>T;ENST00000585579:exon6:c.758-1G>T)	.	.	0.999990361384395	0.938
18	34335082	A	C	18	36755119	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.A3708C:p.R1236S;FHOD3:NM_001281740:exon25:c.A4233C:p.R1411S;FHOD3:NM_001281739:exon21:c.A3657C:p.R1219S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.A3657C:p.R1219S;ENSG00000134775:ENST00000257209:exon22:c.A3708C:p.R1236S;ENSG00000134775:ENST00000591635:exon14:c.A1296C:p.R432S;ENSG00000134775:ENST00000590592:exon25:c.A4233C:p.R1411S;ENSG00000134775:ENST00000445677:exon21:c.A3594C:p.R1198S;ENSG00000134775:ENST00000592128:exon7:c.A645C:p.R215S;	1.69255945545618E-5	0.104
18	34335082	A	G	18	36755119	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon22:c.A3708G:p.R1236R;FHOD3:NM_001281740:exon25:c.A4233G:p.R1411R;FHOD3:NM_001281739:exon21:c.A3657G:p.R1219R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.A3657G:p.R1219R;ENSG00000134775:ENST00000257209:exon22:c.A3708G:p.R1236R;ENSG00000134775:ENST00000591635:exon14:c.A1296G:p.R432R;ENSG00000134775:ENST00000590592:exon25:c.A4233G:p.R1411R;ENSG00000134775:ENST00000445677:exon21:c.A3594G:p.R1198R;ENSG00000134775:ENST00000592128:exon7:c.A645G:p.R215R;	3.50669453614139E-5	0.008
18	34335082	A	T	18	36755119	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.A3708T:p.R1236S;FHOD3:NM_001281740:exon25:c.A4233T:p.R1411S;FHOD3:NM_001281739:exon21:c.A3657T:p.R1219S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.A3657T:p.R1219S;ENSG00000134775:ENST00000257209:exon22:c.A3708T:p.R1236S;ENSG00000134775:ENST00000591635:exon14:c.A1296T:p.R432S;ENSG00000134775:ENST00000590592:exon25:c.A4233T:p.R1411S;ENSG00000134775:ENST00000445677:exon21:c.A3594T:p.R1198S;ENSG00000134775:ENST00000592128:exon7:c.A645T:p.R215S;	2.07416163526454E-5	0.086
18	34335083	T	A	18	36755120	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.T3709A:p.F1237I;FHOD3:NM_001281740:exon25:c.T4234A:p.F1412I;FHOD3:NM_001281739:exon21:c.T3658A:p.F1220I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.T3658A:p.F1220I;ENSG00000134775:ENST00000257209:exon22:c.T3709A:p.F1237I;ENSG00000134775:ENST00000591635:exon14:c.T1297A:p.F433I;ENSG00000134775:ENST00000590592:exon25:c.T4234A:p.F1412I;ENSG00000134775:ENST00000445677:exon21:c.T3595A:p.F1199I;ENSG00000134775:ENST00000592128:exon7:c.T646A:p.F216I;	0.540410297830809	0.668
18	34335083	T	C	18	36755120	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.T3709C:p.F1237L;FHOD3:NM_001281740:exon25:c.T4234C:p.F1412L;FHOD3:NM_001281739:exon21:c.T3658C:p.F1220L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.T3658C:p.F1220L;ENSG00000134775:ENST00000257209:exon22:c.T3709C:p.F1237L;ENSG00000134775:ENST00000591635:exon14:c.T1297C:p.F433L;ENSG00000134775:ENST00000590592:exon25:c.T4234C:p.F1412L;ENSG00000134775:ENST00000445677:exon21:c.T3595C:p.F1199L;ENSG00000134775:ENST00000592128:exon7:c.T646C:p.F216L;	0.602599833938502	0.65
18	34335083	T	G	18	36755120	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.T3709G:p.F1237V;FHOD3:NM_001281740:exon25:c.T4234G:p.F1412V;FHOD3:NM_001281739:exon21:c.T3658G:p.F1220V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.T3658G:p.F1220V;ENSG00000134775:ENST00000257209:exon22:c.T3709G:p.F1237V;ENSG00000134775:ENST00000591635:exon14:c.T1297G:p.F433V;ENSG00000134775:ENST00000590592:exon25:c.T4234G:p.F1412V;ENSG00000134775:ENST00000445677:exon21:c.T3595G:p.F1199V;ENSG00000134775:ENST00000592128:exon7:c.T646G:p.F216V;	0.517784416805913	0.634
18	34335272	G	A	18	36755309	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.G3898A:p.D1300N;FHOD3:NM_001281740:exon25:c.G4423A:p.D1475N;FHOD3:NM_001281739:exon21:c.G3847A:p.D1283N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.G3847A:p.D1283N;ENSG00000134775:ENST00000257209:exon22:c.G3898A:p.D1300N;ENSG00000134775:ENST00000591635:exon14:c.G1486A:p.D496N;ENSG00000134775:ENST00000590592:exon25:c.G4423A:p.D1475N;ENSG00000134775:ENST00000445677:exon21:c.G3784A:p.D1262N;ENSG00000134775:ENST00000592128:exon7:c.G835A:p.D279N;	0.96655153334117	0.784
18	34335272	G	C	18	36755309	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.G3898C:p.D1300H;FHOD3:NM_001281740:exon25:c.G4423C:p.D1475H;FHOD3:NM_001281739:exon21:c.G3847C:p.D1283H;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.G3847C:p.D1283H;ENSG00000134775:ENST00000257209:exon22:c.G3898C:p.D1300H;ENSG00000134775:ENST00000591635:exon14:c.G1486C:p.D496H;ENSG00000134775:ENST00000590592:exon25:c.G4423C:p.D1475H;ENSG00000134775:ENST00000445677:exon21:c.G3784C:p.D1262H;ENSG00000134775:ENST00000592128:exon7:c.G835C:p.D279H;	0.964144345695635	0.724
18	34335272	G	T	18	36755309	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.G3898T:p.D1300Y;FHOD3:NM_001281740:exon25:c.G4423T:p.D1475Y;FHOD3:NM_001281739:exon21:c.G3847T:p.D1283Y;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.G3847T:p.D1283Y;ENSG00000134775:ENST00000257209:exon22:c.G3898T:p.D1300Y;ENSG00000134775:ENST00000591635:exon14:c.G1486T:p.D496Y;ENSG00000134775:ENST00000590592:exon25:c.G4423T:p.D1475Y;ENSG00000134775:ENST00000445677:exon21:c.G3784T:p.D1262Y;ENSG00000134775:ENST00000592128:exon7:c.G835T:p.D279Y;	0.978442100634105	0.794
18	34335273	A	C	18	36755310	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.A3899C:p.D1300A;FHOD3:NM_001281740:exon25:c.A4424C:p.D1475A;FHOD3:NM_001281739:exon21:c.A3848C:p.D1283A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.A3848C:p.D1283A;ENSG00000134775:ENST00000257209:exon22:c.A3899C:p.D1300A;ENSG00000134775:ENST00000591635:exon14:c.A1487C:p.D496A;ENSG00000134775:ENST00000590592:exon25:c.A4424C:p.D1475A;ENSG00000134775:ENST00000445677:exon21:c.A3785C:p.D1262A;ENSG00000134775:ENST00000592128:exon7:c.A836C:p.D279A;	0.989244503022789	0.908
18	34335273	A	G	18	36755310	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.A3899G:p.D1300G;FHOD3:NM_001281740:exon25:c.A4424G:p.D1475G;FHOD3:NM_001281739:exon21:c.A3848G:p.D1283G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.A3848G:p.D1283G;ENSG00000134775:ENST00000257209:exon22:c.A3899G:p.D1300G;ENSG00000134775:ENST00000591635:exon14:c.A1487G:p.D496G;ENSG00000134775:ENST00000590592:exon25:c.A4424G:p.D1475G;ENSG00000134775:ENST00000445677:exon21:c.A3785G:p.D1262G;ENSG00000134775:ENST00000592128:exon7:c.A836G:p.D279G;	0.99251460749209	0.858
18	34335273	A	T	18	36755310	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.A3899T:p.D1300V;FHOD3:NM_001281740:exon25:c.A4424T:p.D1475V;FHOD3:NM_001281739:exon21:c.A3848T:p.D1283V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.A3848T:p.D1283V;ENSG00000134775:ENST00000257209:exon22:c.A3899T:p.D1300V;ENSG00000134775:ENST00000591635:exon14:c.A1487T:p.D496V;ENSG00000134775:ENST00000590592:exon25:c.A4424T:p.D1475V;ENSG00000134775:ENST00000445677:exon21:c.A3785T:p.D1262V;ENSG00000134775:ENST00000592128:exon7:c.A836T:p.D279V;	0.993762061693497	0.9
18	34335274	T	A	18	36755311	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.T3900A:p.D1300E;FHOD3:NM_001281740:exon25:c.T4425A:p.D1475E;FHOD3:NM_001281739:exon21:c.T3849A:p.D1283E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.T3849A:p.D1283E;ENSG00000134775:ENST00000257209:exon22:c.T3900A:p.D1300E;ENSG00000134775:ENST00000591635:exon14:c.T1488A:p.D496E;ENSG00000134775:ENST00000590592:exon25:c.T4425A:p.D1475E;ENSG00000134775:ENST00000445677:exon21:c.T3786A:p.D1262E;ENSG00000134775:ENST00000592128:exon7:c.T837A:p.D279E;	1.18743980604943E-4	0.002
18	34335274	T	C	18	36755311	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon22:c.T3900C:p.D1300D;FHOD3:NM_001281740:exon25:c.T4425C:p.D1475D;FHOD3:NM_001281739:exon21:c.T3849C:p.D1283D;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.T3849C:p.D1283D;ENSG00000134775:ENST00000257209:exon22:c.T3900C:p.D1300D;ENSG00000134775:ENST00000591635:exon14:c.T1488C:p.D496D;ENSG00000134775:ENST00000590592:exon25:c.T4425C:p.D1475D;ENSG00000134775:ENST00000445677:exon21:c.T3786C:p.D1262D;ENSG00000134775:ENST00000592128:exon7:c.T837C:p.D279D;	1.59749502604056E-4	0.03
18	34335274	T	G	18	36755311	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon22:c.T3900G:p.D1300E;FHOD3:NM_001281740:exon25:c.T4425G:p.D1475E;FHOD3:NM_001281739:exon21:c.T3849G:p.D1283E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon21:c.T3849G:p.D1283E;ENSG00000134775:ENST00000257209:exon22:c.T3900G:p.D1300E;ENSG00000134775:ENST00000591635:exon14:c.T1488G:p.D496E;ENSG00000134775:ENST00000590592:exon25:c.T4425G:p.D1475E;ENSG00000134775:ENST00000445677:exon21:c.T3786G:p.D1262E;ENSG00000134775:ENST00000592128:exon7:c.T837G:p.D279E;	7.41179611625998E-5	0.044
18	34335275	G	A	18	36755312	y	y	splicing	FHOD3(NM_025135:exon22:c.3900+1G>A;NM_001281740:exon25:c.4425+1G>A;NM_001281739:exon21:c.3849+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3900+1G>A;ENST00000445677:exon21:c.3786+1G>A;ENST00000359247:exon21:c.3849+1G>A;ENST00000590592:exon25:c.4425+1G>A;ENST00000591635:exon14:c.1488+1G>A;ENST00000592930:exon15:c.3181+1G>A;ENST00000592128:exon7:c.837+1G>A;ENST00000585579:exon6:c.950+1G>A)	.	.	0.999990361384395	0.938
18	34335275	G	C	18	36755312	y	y	splicing	FHOD3(NM_025135:exon22:c.3900+1G>C;NM_001281740:exon25:c.4425+1G>C;NM_001281739:exon21:c.3849+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3900+1G>C;ENST00000445677:exon21:c.3786+1G>C;ENST00000359247:exon21:c.3849+1G>C;ENST00000590592:exon25:c.4425+1G>C;ENST00000591635:exon14:c.1488+1G>C;ENST00000592930:exon15:c.3181+1G>C;ENST00000592128:exon7:c.837+1G>C;ENST00000585579:exon6:c.950+1G>C)	.	.	0.999990361384395	0.938
18	34335275	G	T	18	36755312	y	y	splicing	FHOD3(NM_025135:exon22:c.3900+1G>T;NM_001281740:exon25:c.4425+1G>T;NM_001281739:exon21:c.3849+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3900+1G>T;ENST00000445677:exon21:c.3786+1G>T;ENST00000359247:exon21:c.3849+1G>T;ENST00000590592:exon25:c.4425+1G>T;ENST00000591635:exon14:c.1488+1G>T;ENST00000592930:exon15:c.3181+1G>T;ENST00000592128:exon7:c.837+1G>T;ENST00000585579:exon6:c.950+1G>T)	.	.	0.999990361384395	0.938
18	34335276	T	A	18	36755313	y	y	splicing	FHOD3(NM_025135:exon22:c.3900+2T>A;NM_001281740:exon25:c.4425+2T>A;NM_001281739:exon21:c.3849+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3900+2T>A;ENST00000445677:exon21:c.3786+2T>A;ENST00000359247:exon21:c.3849+2T>A;ENST00000590592:exon25:c.4425+2T>A;ENST00000591635:exon14:c.1488+2T>A;ENST00000592930:exon15:c.3181+2T>A;ENST00000592128:exon7:c.837+2T>A;ENST00000585579:exon6:c.950+2T>A)	.	.	0.999988247793601	0.93
18	34335276	T	C	18	36755313	y	y	splicing	FHOD3(NM_025135:exon22:c.3900+2T>C;NM_001281740:exon25:c.4425+2T>C;NM_001281739:exon21:c.3849+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3900+2T>C;ENST00000445677:exon21:c.3786+2T>C;ENST00000359247:exon21:c.3849+2T>C;ENST00000590592:exon25:c.4425+2T>C;ENST00000591635:exon14:c.1488+2T>C;ENST00000592930:exon15:c.3181+2T>C;ENST00000592128:exon7:c.837+2T>C;ENST00000585579:exon6:c.950+2T>C)	.	.	0.994877988051647	0.686
18	34335276	T	G	18	36755313	y	y	splicing	FHOD3(NM_025135:exon22:c.3900+2T>G;NM_001281740:exon25:c.4425+2T>G;NM_001281739:exon21:c.3849+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon22:c.3900+2T>G;ENST00000445677:exon21:c.3786+2T>G;ENST00000359247:exon21:c.3849+2T>G;ENST00000590592:exon25:c.4425+2T>G;ENST00000591635:exon14:c.1488+2T>G;ENST00000592930:exon15:c.3181+2T>G;ENST00000592128:exon7:c.837+2T>G;ENST00000585579:exon6:c.950+2T>G)	.	.	0.999988247793601	0.93
18	34335277	A	C	18	36755314	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.990028453083788	0.666
18	34335277	A	G	18	36755314	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0068725299101066	0.132
18	34335277	A	T	18	36755314	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.995428929283296	0.654
18	34335278	A	C	18	36755315	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.982882072551175	0.744
18	34335278	A	G	18	36755315	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997783987019964	0.756
18	34335278	A	T	18	36755315	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.944319552133675	0.676
18	34335279	G	A	18	36755316	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999964390859048	0.962
18	34335279	G	C	18	36755316	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999678695600944	0.838
18	34335279	G	T	18	36755316	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999988016394503	0.966
18	34335280	T	A	18	36755317	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997241231540816	0.768
18	34335280	T	C	18	36755317	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.929608018786014	0.666
18	34335280	T	G	18	36755317	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.894400317974237	0.636
18	34335281	T	A	18	36755318	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.47520442051301E-4	0.016
18	34335281	T	C	18	36755318	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.01280579036031E-4	0.074
18	34335281	T	G	18	36755318	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.01280579036031E-4	0.024
18	34335282	T	A	18	36755319	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.05822163870609E-4	0.0
18	34335282	T	C	18	36755319	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.51591174045998E-4	0.016
18	34335282	T	G	18	36755319	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.03789903775416E-4	0.014
18	34339069	C	A	18	36759106	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.98714398147765	0.906
18	34339069	C	G	18	36759106	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.988451337246128	0.886
18	34339069	C	T	18	36759106	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.98714398147765	0.912
18	34339070	C	A	18	36759107	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0102853719947996	0.182
18	34339070	C	G	18	36759107	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0102853719947996	0.182
18	34339070	C	T	18	36759107	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0102853719947996	0.188
18	34339071	T	A	18	36759108	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.018848562993765	0.212
18	34339071	T	C	18	36759108	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0138686981344558	0.194
18	34339071	T	G	18	36759108	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0138686981344558	0.2
18	34339072	C	A	18	36759109	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.06691679191732E-5	0.02
18	34339072	C	G	18	36759109	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.06691679191732E-5	0.018
18	34339072	C	T	18	36759109	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.21294092041324E-5	0.024
18	34339073	T	A	18	36759110	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.47503372442534E-5	0.162
18	34339073	T	C	18	36759110	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.75063351431039E-5	0.108
18	34339073	T	G	18	36759110	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.75063351431039E-5	0.11
18	34339074	C	A	18	36759111	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.87096787880053E-5	0.018
18	34339074	C	G	18	36759111	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.03447871252391E-4	0.032
18	34339074	C	T	18	36759111	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.67414294215634E-5	0.018
18	34339075	G	A	18	36759112	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0434475704153852	0.226
18	34339075	G	C	18	36759112	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0434475704153852	0.248
18	34339075	G	T	18	36759112	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0434475704153852	0.252
18	34339076	G	A	18	36759113	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0139556843888031	0.222
18	34339076	G	C	18	36759113	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0102550258724453	0.214
18	34339076	G	T	18	36759113	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.01678758039849	0.228
18	34339077	G	A	18	36759114	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.988451337246128	0.886
18	34339077	G	C	18	36759114	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.988451337246128	0.876
18	34339077	G	T	18	36759114	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.988451337246128	0.884
18	34339078	T	A	18	36759115	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.060123840629593	0.262
18	34339078	T	C	18	36759115	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.060123840629593	0.262
18	34339078	T	G	18	36759115	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.060123840629593	0.262
18	34339079	A	C	18	36759116	y	y	splicing	FHOD3(NM_001281740:exon26:c.4426-2A>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4426-2A>C)	.	.	0.813811262696671	0.818
18	34339079	A	G	18	36759116	y	y	splicing	FHOD3(NM_001281740:exon26:c.4426-2A>G)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4426-2A>G)	.	.	0.813811262696671	0.82
18	34339079	A	T	18	36759116	y	y	splicing	FHOD3(NM_001281740:exon26:c.4426-2A>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4426-2A>T)	.	.	0.813811262696671	0.82
18	34339080	G	A	18	36759117	y	y	splicing	FHOD3(NM_001281740:exon26:c.4426-1G>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4426-1G>A)	.	.	0.985672053863196	0.922
18	34339080	G	C	18	36759117	y	y	splicing	FHOD3(NM_001281740:exon26:c.4426-1G>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4426-1G>C)	.	.	0.983451310503366	0.914
18	34339080	G	T	18	36759117	y	y	splicing	FHOD3(NM_001281740:exon26:c.4426-1G>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4426-1G>T)	.	.	0.985672053863196	0.922
18	34339081	A	C	18	36759118	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.A4426C:p.T1476P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.A4426C:p.T1476P;	0.813811262696671	0.828
18	34339081	A	G	18	36759118	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.A4426G:p.T1476A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.A4426G:p.T1476A;	0.813811262696671	0.828
18	34339081	A	T	18	36759118	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.A4426T:p.T1476S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.A4426T:p.T1476S;	0.813811262696671	0.824
18	34339082	C	A	18	36759119	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.C4427A:p.T1476N;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.C4427A:p.T1476N;	0.985672053863196	0.914
18	34339082	C	G	18	36759119	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.C4427G:p.T1476S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.C4427G:p.T1476S;	0.985672053863196	0.914
18	34339082	C	T	18	36759119	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.C4427T:p.T1476I;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.C4427T:p.T1476I;	0.985672053863196	0.914
18	34339102	G	A	18	36759139	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.G4447A:p.E1483K;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.G4447A:p.E1483K;	0.984751294547653	0.9
18	34339102	G	C	18	36759139	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.G4447C:p.E1483Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.G4447C:p.E1483Q;	0.988157380456426	0.9
18	34339102	G	T	18	36759139	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_001281740:exon26:c.G4447T:p.E1483X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000590592:exon26:c.G4447T:p.E1483X;	0.984751294547653	0.898
18	34339103	A	C	18	36759140	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.A4448C:p.E1483A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.A4448C:p.E1483A;	0.637519261294327	0.828
18	34339103	A	G	18	36759140	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.A4448G:p.E1483G;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.A4448G:p.E1483G;	0.637519261294327	0.828
18	34339103	A	T	18	36759140	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.A4448T:p.E1483V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.A4448T:p.E1483V;	0.637519261294327	0.832
18	34339104	G	A	18	36759141	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_001281740:exon26:c.G4449A:p.E1483E;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.G4449A:p.E1483E;	0.984751294547653	0.9
18	34339104	G	C	18	36759141	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.G4449C:p.E1483D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.G4449C:p.E1483D;	0.988157380456426	0.9
18	34339104	G	T	18	36759141	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_001281740:exon26:c.G4449T:p.E1483D;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000590592:exon26:c.G4449T:p.E1483D;	0.988157380456426	0.902
18	34339105	G	A	18	36759142	y	y	splicing	FHOD3(NM_001281740:exon26:c.4449+1G>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4449+1G>A)	.	.	0.988157380456426	0.902
18	34339105	G	C	18	36759142	y	y	splicing	FHOD3(NM_001281740:exon26:c.4449+1G>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4449+1G>C)	.	.	0.988157380456426	0.894
18	34339105	G	T	18	36759142	y	y	splicing	FHOD3(NM_001281740:exon26:c.4449+1G>T)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4449+1G>T)	.	.	0.988157380456426	0.9
18	34339106	T	A	18	36759143	y	y	splicing	FHOD3(NM_001281740:exon26:c.4449+2T>A)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4449+2T>A)	.	.	0.603067425118615	0.822
18	34339106	T	C	18	36759143	y	y	splicing	FHOD3(NM_001281740:exon26:c.4449+2T>C)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4449+2T>C)	.	.	0.662511213311893	0.82
18	34339106	T	G	18	36759143	y	y	splicing	FHOD3(NM_001281740:exon26:c.4449+2T>G)	.	.	splicing	ENSG00000134775(ENST00000590592:exon26:c.4449+2T>G)	.	.	0.662511213311893	0.82
18	34339107	A	C	18	36759144	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.662511213311893	0.8
18	34339107	A	G	18	36759144	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.662511213311893	0.8
18	34339107	A	T	18	36759144	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.662511213311893	0.82
18	34339108	T	A	18	36759145	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.25216440690967E-5	0.04
18	34339108	T	C	18	36759145	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.25216440690967E-5	0.03
18	34339108	T	G	18	36759145	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.25216440690967E-5	0.03
18	34339109	G	A	18	36759146	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.986608540075816	0.834
18	34339109	G	C	18	36759146	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.984307477405903	0.816
18	34339109	G	T	18	36759146	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.986608540075816	0.83
18	34339110	A	C	18	36759147	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.44958268314859E-4	0.008
18	34339110	A	G	18	36759147	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.44958268314859E-4	0.008
18	34339110	A	T	18	36759147	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.44958268314859E-4	0.008
18	34339111	C	A	18	36759148	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.08692400722682E-5	0.0
18	34339111	C	G	18	36759148	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.08692400722682E-5	0.0
18	34339111	C	T	18	36759148	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.08692400722682E-5	0.0
18	34339112	C	A	18	36759149	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.45277156108894E-5	0.0
18	34339112	C	G	18	36759149	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.45277156108894E-5	0.0
18	34339112	C	T	18	36759149	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.45277156108894E-5	0.0
18	34340559	T	A	18	36760596	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.589675142257271	0.568
18	34340559	T	C	18	36760596	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00579081117109123	0.118
18	34340559	T	G	18	36760596	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.673844478627241	0.522
18	34340560	T	A	18	36760597	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99997408201126	0.956
18	34340560	T	C	18	36760597	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.141907472376683	0.25
18	34340560	T	G	18	36760597	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.830188293147823	0.718
18	34340561	G	A	18	36760598	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99931533419971	0.932
18	34340561	G	C	18	36760598	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00272276872124345	0.042
18	34340561	G	T	18	36760598	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.68458298751807E-4	0.022
18	34340562	G	A	18	36760599	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.7539092874995E-4	0.094
18	34340562	G	C	18	36760599	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.98012911074432E-4	0.006
18	34340562	G	T	18	36760599	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.44829127907068E-5	0.022
18	34340563	T	A	18	36760600	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.292602629110094	0.442
18	34340563	T	C	18	36760600	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.43088593175048E-4	0.024
18	34340563	T	G	18	36760600	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.111220062435821	0.362
18	34340564	T	A	18	36760601	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0374949067727055	0.238
18	34340564	T	C	18	36760601	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.10851932510727E-5	0.036
18	34340564	T	G	18	36760601	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00759267705141113	0.102
18	34340565	T	A	18	36760602	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.809438296800569	0.612
18	34340565	T	C	18	36760602	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00369096127250136	0.074
18	34340565	T	G	18	36760602	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.811269609317885	0.526
18	34340566	T	A	18	36760603	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999606100838668	0.874
18	34340566	T	C	18	36760603	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00237694153057749	0.086
18	34340566	T	G	18	36760603	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.380503787915694	0.402
18	34340567	G	A	18	36760604	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00122988007284544	0.03
18	34340567	G	C	18	36760604	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00102992499727056	0.026
18	34340567	G	T	18	36760604	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.001151053916434	0.032
18	34340568	C	A	18	36760605	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.974181579887499	0.792
18	34340568	C	G	18	36760605	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999751558630161	0.88
18	34340568	C	T	18	36760605	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0261073271352203	0.204
18	34340569	A	C	18	36760606	y	y	splicing	FHOD3(NM_025135:exon23:c.3901-2A>C;NM_001281740:exon27:c.4450-2A>C;NM_001281739:exon22:c.3850-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.3901-2A>C;ENST00000445677:exon22:c.3787-2A>C;ENST00000359247:exon22:c.3850-2A>C;ENST00000590592:exon27:c.4450-2A>C;ENST00000591635:exon15:c.1489-2A>C;ENST00000592930:exon16:c.3182-2A>C;ENST00000592128:exon8:c.838-2A>C)	.	.	0.999993384937023	0.928
18	34340569	A	G	18	36760606	y	y	splicing	FHOD3(NM_025135:exon23:c.3901-2A>G;NM_001281740:exon27:c.4450-2A>G;NM_001281739:exon22:c.3850-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.3901-2A>G;ENST00000445677:exon22:c.3787-2A>G;ENST00000359247:exon22:c.3850-2A>G;ENST00000590592:exon27:c.4450-2A>G;ENST00000591635:exon15:c.1489-2A>G;ENST00000592930:exon16:c.3182-2A>G;ENST00000592128:exon8:c.838-2A>G)	.	.	0.999993384937023	0.928
18	34340569	A	T	18	36760606	y	y	splicing	FHOD3(NM_025135:exon23:c.3901-2A>T;NM_001281740:exon27:c.4450-2A>T;NM_001281739:exon22:c.3850-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.3901-2A>T;ENST00000445677:exon22:c.3787-2A>T;ENST00000359247:exon22:c.3850-2A>T;ENST00000590592:exon27:c.4450-2A>T;ENST00000591635:exon15:c.1489-2A>T;ENST00000592930:exon16:c.3182-2A>T;ENST00000592128:exon8:c.838-2A>T)	.	.	0.999994907583848	0.93
18	34340570	G	A	18	36760607	y	y	splicing	FHOD3(NM_025135:exon23:c.3901-1G>A;NM_001281740:exon27:c.4450-1G>A;NM_001281739:exon22:c.3850-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.3901-1G>A;ENST00000445677:exon22:c.3787-1G>A;ENST00000359247:exon22:c.3850-1G>A;ENST00000590592:exon27:c.4450-1G>A;ENST00000591635:exon15:c.1489-1G>A;ENST00000592930:exon16:c.3182-1G>A;ENST00000592128:exon8:c.838-1G>A)	.	.	0.999990764389106	0.928
18	34340570	G	C	18	36760607	y	y	splicing	FHOD3(NM_025135:exon23:c.3901-1G>C;NM_001281740:exon27:c.4450-1G>C;NM_001281739:exon22:c.3850-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.3901-1G>C;ENST00000445677:exon22:c.3787-1G>C;ENST00000359247:exon22:c.3850-1G>C;ENST00000590592:exon27:c.4450-1G>C;ENST00000591635:exon15:c.1489-1G>C;ENST00000592930:exon16:c.3182-1G>C;ENST00000592128:exon8:c.838-1G>C)	.	.	0.999983459627143	0.926
18	34340570	G	T	18	36760607	y	y	splicing	FHOD3(NM_025135:exon23:c.3901-1G>T;NM_001281740:exon27:c.4450-1G>T;NM_001281739:exon22:c.3850-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.3901-1G>T;ENST00000445677:exon22:c.3787-1G>T;ENST00000359247:exon22:c.3850-1G>T;ENST00000590592:exon27:c.4450-1G>T;ENST00000591635:exon15:c.1489-1G>T;ENST00000592930:exon16:c.3182-1G>T;ENST00000592128:exon8:c.838-1G>T)	.	.	0.999990764389106	0.928
18	34340571	T	A	18	36760608	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.T3901A:p.S1301T;FHOD3:NM_001281740:exon27:c.T4450A:p.S1484T;FHOD3:NM_001281739:exon22:c.T3850A:p.S1284T;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.T3850A:p.S1284T;ENSG00000134775:ENST00000257209:exon23:c.T3901A:p.S1301T;ENSG00000134775:ENST00000591635:exon15:c.T1489A:p.S497T;ENSG00000134775:ENST00000590592:exon27:c.T4450A:p.S1484T;ENSG00000134775:ENST00000445677:exon22:c.T3787A:p.S1263T;ENSG00000134775:ENST00000592128:exon8:c.T838A:p.S280T;	3.14126747889671E-5	0.006
18	34340571	T	C	18	36760608	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.T3901C:p.S1301P;FHOD3:NM_001281740:exon27:c.T4450C:p.S1484P;FHOD3:NM_001281739:exon22:c.T3850C:p.S1284P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.T3850C:p.S1284P;ENSG00000134775:ENST00000257209:exon23:c.T3901C:p.S1301P;ENSG00000134775:ENST00000591635:exon15:c.T1489C:p.S497P;ENSG00000134775:ENST00000590592:exon27:c.T4450C:p.S1484P;ENSG00000134775:ENST00000445677:exon22:c.T3787C:p.S1263P;ENSG00000134775:ENST00000592128:exon8:c.T838C:p.S280P;	1.32319132790063E-4	0.132
18	34340571	T	G	18	36760608	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.T3901G:p.S1301A;FHOD3:NM_001281740:exon27:c.T4450G:p.S1484A;FHOD3:NM_001281739:exon22:c.T3850G:p.S1284A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.T3850G:p.S1284A;ENSG00000134775:ENST00000257209:exon23:c.T3901G:p.S1301A;ENSG00000134775:ENST00000591635:exon15:c.T1489G:p.S497A;ENSG00000134775:ENST00000590592:exon27:c.T4450G:p.S1484A;ENSG00000134775:ENST00000445677:exon22:c.T3787G:p.S1263A;ENSG00000134775:ENST00000592128:exon8:c.T838G:p.S280A;	7.64485229621204E-4	0.144
18	34340572	C	A	18	36760609	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.C3902A:p.S1301Y;FHOD3:NM_001281740:exon27:c.C4451A:p.S1484Y;FHOD3:NM_001281739:exon22:c.C3851A:p.S1284Y;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.C3851A:p.S1284Y;ENSG00000134775:ENST00000257209:exon23:c.C3902A:p.S1301Y;ENSG00000134775:ENST00000591635:exon15:c.C1490A:p.S497Y;ENSG00000134775:ENST00000590592:exon27:c.C4451A:p.S1484Y;ENSG00000134775:ENST00000445677:exon22:c.C3788A:p.S1263Y;ENSG00000134775:ENST00000592128:exon8:c.C839A:p.S280Y;	0.920983648169408	0.628
18	34340572	C	G	18	36760609	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.C3902G:p.S1301C;FHOD3:NM_001281740:exon27:c.C4451G:p.S1484C;FHOD3:NM_001281739:exon22:c.C3851G:p.S1284C;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.C3851G:p.S1284C;ENSG00000134775:ENST00000257209:exon23:c.C3902G:p.S1301C;ENSG00000134775:ENST00000591635:exon15:c.C1490G:p.S497C;ENSG00000134775:ENST00000590592:exon27:c.C4451G:p.S1484C;ENSG00000134775:ENST00000445677:exon22:c.C3788G:p.S1263C;ENSG00000134775:ENST00000592128:exon8:c.C839G:p.S280C;	0.701841143248695	0.548
18	34340572	C	T	18	36760609	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.C3902T:p.S1301F;FHOD3:NM_001281740:exon27:c.C4451T:p.S1484F;FHOD3:NM_001281739:exon22:c.C3851T:p.S1284F;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.C3851T:p.S1284F;ENSG00000134775:ENST00000257209:exon23:c.C3902T:p.S1301F;ENSG00000134775:ENST00000591635:exon15:c.C1490T:p.S497F;ENSG00000134775:ENST00000590592:exon27:c.C4451T:p.S1484F;ENSG00000134775:ENST00000445677:exon22:c.C3788T:p.S1263F;ENSG00000134775:ENST00000592128:exon8:c.C839T:p.S280F;	0.880511414418043	0.652
18	34340743	G	A	18	36760780	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.G4073A:p.R1358Q;FHOD3:NM_001281740:exon27:c.G4622A:p.R1541Q;FHOD3:NM_001281739:exon22:c.G4022A:p.R1341Q;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.G4022A:p.R1341Q;ENSG00000134775:ENST00000257209:exon23:c.G4073A:p.R1358Q;ENSG00000134775:ENST00000591635:exon15:c.G1661A:p.R554Q;ENSG00000134775:ENST00000590592:exon27:c.G4622A:p.R1541Q;ENSG00000134775:ENST00000445677:exon22:c.G3959A:p.R1320Q;ENSG00000134775:ENST00000592128:exon8:c.G1010A:p.R337Q;	0.945843849989626	0.806
18	34340743	G	C	18	36760780	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.G4073C:p.R1358P;FHOD3:NM_001281740:exon27:c.G4622C:p.R1541P;FHOD3:NM_001281739:exon22:c.G4022C:p.R1341P;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.G4022C:p.R1341P;ENSG00000134775:ENST00000257209:exon23:c.G4073C:p.R1358P;ENSG00000134775:ENST00000591635:exon15:c.G1661C:p.R554P;ENSG00000134775:ENST00000590592:exon27:c.G4622C:p.R1541P;ENSG00000134775:ENST00000445677:exon22:c.G3959C:p.R1320P;ENSG00000134775:ENST00000592128:exon8:c.G1010C:p.R337P;	0.929066619171166	0.708
18	34340743	G	T	18	36760780	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.G4073T:p.R1358L;FHOD3:NM_001281740:exon27:c.G4622T:p.R1541L;FHOD3:NM_001281739:exon22:c.G4022T:p.R1341L;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.G4022T:p.R1341L;ENSG00000134775:ENST00000257209:exon23:c.G4073T:p.R1358L;ENSG00000134775:ENST00000591635:exon15:c.G1661T:p.R554L;ENSG00000134775:ENST00000590592:exon27:c.G4622T:p.R1541L;ENSG00000134775:ENST00000445677:exon22:c.G3959T:p.R1320L;ENSG00000134775:ENST00000592128:exon8:c.G1010T:p.R337L;	0.957376225856177	0.748
18	34340744	A	C	18	36760781	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon23:c.A4074C:p.R1358R;FHOD3:NM_001281740:exon27:c.A4623C:p.R1541R;FHOD3:NM_001281739:exon22:c.A4023C:p.R1341R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.A4023C:p.R1341R;ENSG00000134775:ENST00000257209:exon23:c.A4074C:p.R1358R;ENSG00000134775:ENST00000591635:exon15:c.A1662C:p.R554R;ENSG00000134775:ENST00000590592:exon27:c.A4623C:p.R1541R;ENSG00000134775:ENST00000445677:exon22:c.A3960C:p.R1320R;ENSG00000134775:ENST00000592128:exon8:c.A1011C:p.R337R;	0.993025200360039	0.864
18	34340744	A	G	18	36760781	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon23:c.A4074G:p.R1358R;FHOD3:NM_001281740:exon27:c.A4623G:p.R1541R;FHOD3:NM_001281739:exon22:c.A4023G:p.R1341R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.A4023G:p.R1341R;ENSG00000134775:ENST00000257209:exon23:c.A4074G:p.R1358R;ENSG00000134775:ENST00000591635:exon15:c.A1662G:p.R554R;ENSG00000134775:ENST00000590592:exon27:c.A4623G:p.R1541R;ENSG00000134775:ENST00000445677:exon22:c.A3960G:p.R1320R;ENSG00000134775:ENST00000592128:exon8:c.A1011G:p.R337R;	0.996946308259003	0.974
18	34340744	A	T	18	36760781	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon23:c.A4074T:p.R1358R;FHOD3:NM_001281740:exon27:c.A4623T:p.R1541R;FHOD3:NM_001281739:exon22:c.A4023T:p.R1341R;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.A4023T:p.R1341R;ENSG00000134775:ENST00000257209:exon23:c.A4074T:p.R1358R;ENSG00000134775:ENST00000591635:exon15:c.A1662T:p.R554R;ENSG00000134775:ENST00000590592:exon27:c.A4623T:p.R1541R;ENSG00000134775:ENST00000445677:exon22:c.A3960T:p.R1320R;ENSG00000134775:ENST00000592128:exon8:c.A1011T:p.R337R;	0.998247381199637	0.98
18	34340745	G	A	18	36760782	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.G4075A:p.G1359R;FHOD3:NM_001281740:exon27:c.G4624A:p.G1542R;FHOD3:NM_001281739:exon22:c.G4024A:p.G1342R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.G4024A:p.G1342R;ENSG00000134775:ENST00000257209:exon23:c.G4075A:p.G1359R;ENSG00000134775:ENST00000591635:exon15:c.G1663A:p.G555R;ENSG00000134775:ENST00000590592:exon27:c.G4624A:p.G1542R;ENSG00000134775:ENST00000445677:exon22:c.G3961A:p.G1321R;ENSG00000134775:ENST00000592128:exon8:c.G1012A:p.G338R;	0.999974938626692	0.972
18	34340745	G	C	18	36760782	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon23:c.G4075C:p.G1359R;FHOD3:NM_001281740:exon27:c.G4624C:p.G1542R;FHOD3:NM_001281739:exon22:c.G4024C:p.G1342R;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon22:c.G4024C:p.G1342R;ENSG00000134775:ENST00000257209:exon23:c.G4075C:p.G1359R;ENSG00000134775:ENST00000591635:exon15:c.G1663C:p.G555R;ENSG00000134775:ENST00000590592:exon27:c.G4624C:p.G1542R;ENSG00000134775:ENST00000445677:exon22:c.G3961C:p.G1321R;ENSG00000134775:ENST00000592128:exon8:c.G1012C:p.G338R;	0.999945620948149	0.938
18	34340745	G	T	18	36760782	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon23:c.G4075T:p.G1359X;FHOD3:NM_001281740:exon27:c.G4624T:p.G1542X;FHOD3:NM_001281739:exon22:c.G4024T:p.G1342X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon22:c.G4024T:p.G1342X;ENSG00000134775:ENST00000257209:exon23:c.G4075T:p.G1359X;ENSG00000134775:ENST00000591635:exon15:c.G1663T:p.G555X;ENSG00000134775:ENST00000590592:exon27:c.G4624T:p.G1542X;ENSG00000134775:ENST00000445677:exon22:c.G3961T:p.G1321X;ENSG00000134775:ENST00000592128:exon8:c.G1012T:p.G338X;	0.999950225058074	0.978
18	34340746	G	A	18	36760783	y	y	splicing	FHOD3(NM_025135:exon23:c.4075+1G>A;NM_001281740:exon27:c.4624+1G>A;NM_001281739:exon22:c.4024+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.4075+1G>A;ENST00000445677:exon22:c.3961+1G>A;ENST00000359247:exon22:c.4024+1G>A;ENST00000590592:exon27:c.4624+1G>A;ENST00000591635:exon15:c.1663+1G>A;ENST00000592930:exon16:c.3356+1G>A;ENST00000592128:exon8:c.1012+1G>A)	.	.	0.999986675681007	0.936
18	34340746	G	C	18	36760783	y	y	splicing	FHOD3(NM_025135:exon23:c.4075+1G>C;NM_001281740:exon27:c.4624+1G>C;NM_001281739:exon22:c.4024+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.4075+1G>C;ENST00000445677:exon22:c.3961+1G>C;ENST00000359247:exon22:c.4024+1G>C;ENST00000590592:exon27:c.4624+1G>C;ENST00000591635:exon15:c.1663+1G>C;ENST00000592930:exon16:c.3356+1G>C;ENST00000592128:exon8:c.1012+1G>C)	.	.	0.999986675681007	0.936
18	34340746	G	T	18	36760783	y	y	splicing	FHOD3(NM_025135:exon23:c.4075+1G>T;NM_001281740:exon27:c.4624+1G>T;NM_001281739:exon22:c.4024+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.4075+1G>T;ENST00000445677:exon22:c.3961+1G>T;ENST00000359247:exon22:c.4024+1G>T;ENST00000590592:exon27:c.4624+1G>T;ENST00000591635:exon15:c.1663+1G>T;ENST00000592930:exon16:c.3356+1G>T;ENST00000592128:exon8:c.1012+1G>T)	.	.	0.999986675681007	0.936
18	34340747	T	A	18	36760784	y	y	splicing	FHOD3(NM_025135:exon23:c.4075+2T>A;NM_001281740:exon27:c.4624+2T>A;NM_001281739:exon22:c.4024+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.4075+2T>A;ENST00000445677:exon22:c.3961+2T>A;ENST00000359247:exon22:c.4024+2T>A;ENST00000590592:exon27:c.4624+2T>A;ENST00000591635:exon15:c.1663+2T>A;ENST00000592930:exon16:c.3356+2T>A;ENST00000592128:exon8:c.1012+2T>A)	.	.	0.999989917668626	0.928
18	34340747	T	C	18	36760784	y	y	splicing	FHOD3(NM_025135:exon23:c.4075+2T>C;NM_001281740:exon27:c.4624+2T>C;NM_001281739:exon22:c.4024+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.4075+2T>C;ENST00000445677:exon22:c.3961+2T>C;ENST00000359247:exon22:c.4024+2T>C;ENST00000590592:exon27:c.4624+2T>C;ENST00000591635:exon15:c.1663+2T>C;ENST00000592930:exon16:c.3356+2T>C;ENST00000592128:exon8:c.1012+2T>C)	.	.	0.991007250132327	0.646
18	34340747	T	G	18	36760784	y	y	splicing	FHOD3(NM_025135:exon23:c.4075+2T>G;NM_001281740:exon27:c.4624+2T>G;NM_001281739:exon22:c.4024+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon23:c.4075+2T>G;ENST00000445677:exon22:c.3961+2T>G;ENST00000359247:exon22:c.4024+2T>G;ENST00000590592:exon27:c.4624+2T>G;ENST00000591635:exon15:c.1663+2T>G;ENST00000592930:exon16:c.3356+2T>G;ENST00000592128:exon8:c.1012+2T>G)	.	.	0.999989917668626	0.928
18	34340748	A	C	18	36760785	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999944771772071	0.976
18	34340748	A	G	18	36760785	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996657577081848	0.924
18	34340748	A	T	18	36760785	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999897856880506	0.868
18	34340749	A	C	18	36760786	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.441910740222994	0.38
18	34340749	A	G	18	36760786	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.877620656755199	0.59
18	34340749	A	T	18	36760786	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.745616782215722	0.418
18	34340750	C	A	18	36760787	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.39017904112581E-4	0.044
18	34340750	C	G	18	36760787	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.58775454850972E-5	0.07
18	34340750	C	T	18	36760787	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.15508510876075E-4	0.024
18	34340751	T	A	18	36760788	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00645575425331474	0.216
18	34340751	T	C	18	36760788	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00993067743951351	0.18
18	34340751	T	G	18	36760788	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00277687551039866	0.186
18	34340752	C	A	18	36760789	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.30689080844437E-4	0.002
18	34340752	C	G	18	36760789	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.38487118789496E-4	0.002
18	34340752	C	T	18	36760789	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.72317085082076E-4	0.0
18	34340753	C	A	18	36760790	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.59301276777165E-5	0.0
18	34340753	C	G	18	36760790	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.74381830624226E-4	0.002
18	34340753	C	T	18	36760790	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.31622463475128E-5	0.002
18	34349216	T	A	18	36769253	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.267636901967197	0.61
18	34349216	T	C	18	36769253	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00159018926069833	0.056
18	34349216	T	G	18	36769253	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.220095963970408	0.648
18	34349217	T	A	18	36769254	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.347507107548848	0.608
18	34349217	T	C	18	36769254	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00610612695303412	0.218
18	34349217	T	G	18	36769254	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.35406686681168	0.57
18	34349218	T	A	18	36769255	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.79211299717387	0.642
18	34349218	T	C	18	36769255	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00212857328874316	0.064
18	34349218	T	G	18	36769255	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.352850196370797	0.644
18	34349219	A	C	18	36769256	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.96396211598752E-5	0.008
18	34349219	A	G	18	36769256	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.91344597663728E-5	0.01
18	34349219	A	T	18	36769256	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.10089335576126E-5	0.016
18	34349220	A	C	18	36769257	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.94519098565573E-4	0.064
18	34349220	A	G	18	36769257	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998827116853023	0.956
18	34349220	A	T	18	36769257	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.73836997348167E-4	0.008
18	34349221	T	A	18	36769258	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00944376961649898	0.138
18	34349221	T	C	18	36769258	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.93946616685804E-4	0.076
18	34349221	T	G	18	36769258	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999878909558876	0.972
18	34349222	T	A	18	36769259	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0198644732955831	0.324
18	34349222	T	C	18	36769259	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.82916590597186E-4	0.076
18	34349222	T	G	18	36769259	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.0299980171245328	0.392
18	34349223	T	A	18	36769260	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.152261348388579	0.21
18	34349223	T	C	18	36769260	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.01573017312142E-4	0.036
18	34349223	T	G	18	36769260	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.26459422759513	0.308
18	34349224	T	A	18	36769261	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00143424987792819	0.014
18	34349224	T	C	18	36769261	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.36575108168522E-4	0.056
18	34349224	T	G	18	36769261	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00132447043238547	0.024
18	34349225	T	A	18	36769262	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00227217563812907	0.228
18	34349225	T	C	18	36769262	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.12392800769022E-4	0.016
18	34349225	T	G	18	36769262	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.555864018577205	0.618
18	34349226	A	C	18	36769263	y	y	splicing	FHOD3(NM_025135:exon24:c.4076-2A>C;NM_001281740:exon28:c.4625-2A>C;NM_001281739:exon23:c.4025-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4076-2A>C;ENST00000445677:exon23:c.3962-2A>C;ENST00000359247:exon23:c.4025-2A>C;ENST00000590592:exon28:c.4625-2A>C;ENST00000591635:exon16:c.1664-2A>C;ENST00000592930:exon17:c.3357-2A>C;ENST00000592128:exon9:c.1013-2A>C;ENST00000585579:exon7:c.951-2A>C)	.	.	0.999988247793601	0.948
18	34349226	A	G	18	36769263	y	y	splicing	FHOD3(NM_025135:exon24:c.4076-2A>G;NM_001281740:exon28:c.4625-2A>G;NM_001281739:exon23:c.4025-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4076-2A>G;ENST00000445677:exon23:c.3962-2A>G;ENST00000359247:exon23:c.4025-2A>G;ENST00000590592:exon28:c.4625-2A>G;ENST00000591635:exon16:c.1664-2A>G;ENST00000592930:exon17:c.3357-2A>G;ENST00000592128:exon9:c.1013-2A>G;ENST00000585579:exon7:c.951-2A>G)	.	.	0.999988247793601	0.948
18	34349226	A	T	18	36769263	y	y	splicing	FHOD3(NM_025135:exon24:c.4076-2A>T;NM_001281740:exon28:c.4625-2A>T;NM_001281739:exon23:c.4025-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4076-2A>T;ENST00000445677:exon23:c.3962-2A>T;ENST00000359247:exon23:c.4025-2A>T;ENST00000590592:exon28:c.4625-2A>T;ENST00000591635:exon16:c.1664-2A>T;ENST00000592930:exon17:c.3357-2A>T;ENST00000592128:exon9:c.1013-2A>T;ENST00000585579:exon7:c.951-2A>T)	.	.	0.999988247793601	0.948
18	34349227	G	A	18	36769264	y	y	splicing	FHOD3(NM_025135:exon24:c.4076-1G>A;NM_001281740:exon28:c.4625-1G>A;NM_001281739:exon23:c.4025-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4076-1G>A;ENST00000445677:exon23:c.3962-1G>A;ENST00000359247:exon23:c.4025-1G>A;ENST00000590592:exon28:c.4625-1G>A;ENST00000591635:exon16:c.1664-1G>A;ENST00000592930:exon17:c.3357-1G>A;ENST00000592128:exon9:c.1013-1G>A;ENST00000585579:exon7:c.951-1G>A)	.	.	0.999985532734767	0.946
18	34349227	G	C	18	36769264	y	y	splicing	FHOD3(NM_025135:exon24:c.4076-1G>C;NM_001281740:exon28:c.4625-1G>C;NM_001281739:exon23:c.4025-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4076-1G>C;ENST00000445677:exon23:c.3962-1G>C;ENST00000359247:exon23:c.4025-1G>C;ENST00000590592:exon28:c.4625-1G>C;ENST00000591635:exon16:c.1664-1G>C;ENST00000592930:exon17:c.3357-1G>C;ENST00000592128:exon9:c.1013-1G>C;ENST00000585579:exon7:c.951-1G>C)	.	.	0.999985532734767	0.946
18	34349227	G	T	18	36769264	y	y	splicing	FHOD3(NM_025135:exon24:c.4076-1G>T;NM_001281740:exon28:c.4625-1G>T;NM_001281739:exon23:c.4025-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4076-1G>T;ENST00000445677:exon23:c.3962-1G>T;ENST00000359247:exon23:c.4025-1G>T;ENST00000590592:exon28:c.4625-1G>T;ENST00000591635:exon16:c.1664-1G>T;ENST00000592930:exon17:c.3357-1G>T;ENST00000592128:exon9:c.1013-1G>T;ENST00000585579:exon7:c.951-1G>T)	.	.	0.999985532734767	0.946
18	34349228	G	A	18	36769265	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon24:c.G4076A:p.G1359E;FHOD3:NM_001281740:exon28:c.G4625A:p.G1542E;FHOD3:NM_001281739:exon23:c.G4025A:p.G1342E;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.G4025A:p.G1342E;ENSG00000134775:ENST00000257209:exon24:c.G4076A:p.G1359E;ENSG00000134775:ENST00000591635:exon16:c.G1664A:p.G555E;ENSG00000134775:ENST00000590592:exon28:c.G4625A:p.G1542E;ENSG00000134775:ENST00000445677:exon23:c.G3962A:p.G1321E;ENSG00000134775:ENST00000592128:exon9:c.G1013A:p.G338E;	0.999611282139415	0.858
18	34349228	G	C	18	36769265	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon24:c.G4076C:p.G1359A;FHOD3:NM_001281740:exon28:c.G4625C:p.G1542A;FHOD3:NM_001281739:exon23:c.G4025C:p.G1342A;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.G4025C:p.G1342A;ENSG00000134775:ENST00000257209:exon24:c.G4076C:p.G1359A;ENSG00000134775:ENST00000591635:exon16:c.G1664C:p.G555A;ENSG00000134775:ENST00000590592:exon28:c.G4625C:p.G1542A;ENSG00000134775:ENST00000445677:exon23:c.G3962C:p.G1321A;ENSG00000134775:ENST00000592128:exon9:c.G1013C:p.G338A;	0.998832424358267	0.968
18	34349228	G	T	18	36769265	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon24:c.G4076T:p.G1359V;FHOD3:NM_001281740:exon28:c.G4625T:p.G1542V;FHOD3:NM_001281739:exon23:c.G4025T:p.G1342V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.G4025T:p.G1342V;ENSG00000134775:ENST00000257209:exon24:c.G4076T:p.G1359V;ENSG00000134775:ENST00000591635:exon16:c.G1664T:p.G555V;ENSG00000134775:ENST00000590592:exon28:c.G4625T:p.G1542V;ENSG00000134775:ENST00000445677:exon23:c.G3962T:p.G1321V;ENSG00000134775:ENST00000592128:exon9:c.G1013T:p.G338V;	0.999756279896304	0.964
18	34349229	A	C	18	36769266	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon24:c.A4077C:p.G1359G;FHOD3:NM_001281740:exon28:c.A4626C:p.G1542G;FHOD3:NM_001281739:exon23:c.A4026C:p.G1342G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.A4026C:p.G1342G;ENSG00000134775:ENST00000257209:exon24:c.A4077C:p.G1359G;ENSG00000134775:ENST00000591635:exon16:c.A1665C:p.G555G;ENSG00000134775:ENST00000590592:exon28:c.A4626C:p.G1542G;ENSG00000134775:ENST00000445677:exon23:c.A3963C:p.G1321G;ENSG00000134775:ENST00000592128:exon9:c.A1014C:p.G338G;	8.15105717184885E-4	0.11
18	34349229	A	G	18	36769266	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon24:c.A4077G:p.G1359G;FHOD3:NM_001281740:exon28:c.A4626G:p.G1542G;FHOD3:NM_001281739:exon23:c.A4026G:p.G1342G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.A4026G:p.G1342G;ENSG00000134775:ENST00000257209:exon24:c.A4077G:p.G1359G;ENSG00000134775:ENST00000591635:exon16:c.A1665G:p.G555G;ENSG00000134775:ENST00000590592:exon28:c.A4626G:p.G1542G;ENSG00000134775:ENST00000445677:exon23:c.A3963G:p.G1321G;ENSG00000134775:ENST00000592128:exon9:c.A1014G:p.G338G;	2.98286954299235E-4	0.04
18	34349229	A	T	18	36769266	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon24:c.A4077T:p.G1359G;FHOD3:NM_001281740:exon28:c.A4626T:p.G1542G;FHOD3:NM_001281739:exon23:c.A4026T:p.G1342G;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.A4026T:p.G1342G;ENSG00000134775:ENST00000257209:exon24:c.A4077T:p.G1359G;ENSG00000134775:ENST00000591635:exon16:c.A1665T:p.G555G;ENSG00000134775:ENST00000590592:exon28:c.A4626T:p.G1542G;ENSG00000134775:ENST00000445677:exon23:c.A3963T:p.G1321G;ENSG00000134775:ENST00000592128:exon9:c.A1014T:p.G338G;	2.49391329351199E-4	0.012
18	34349387	C	A	18	36769424	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon24:c.C4235A:p.S1412Y;FHOD3:NM_001281740:exon28:c.C4784A:p.S1595Y;FHOD3:NM_001281739:exon23:c.C4184A:p.S1395Y;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.C4184A:p.S1395Y;ENSG00000134775:ENST00000257209:exon24:c.C4235A:p.S1412Y;ENSG00000134775:ENST00000591635:exon16:c.C1823A:p.S608Y;ENSG00000134775:ENST00000590592:exon28:c.C4784A:p.S1595Y;ENSG00000134775:ENST00000445677:exon23:c.C4121A:p.S1374Y;ENSG00000134775:ENST00000592128:exon9:c.C1172A:p.S391Y;	0.940365945545554	0.804
18	34349387	C	G	18	36769424	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon24:c.C4235G:p.S1412C;FHOD3:NM_001281740:exon28:c.C4784G:p.S1595C;FHOD3:NM_001281739:exon23:c.C4184G:p.S1395C;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.C4184G:p.S1395C;ENSG00000134775:ENST00000257209:exon24:c.C4235G:p.S1412C;ENSG00000134775:ENST00000591635:exon16:c.C1823G:p.S608C;ENSG00000134775:ENST00000590592:exon28:c.C4784G:p.S1595C;ENSG00000134775:ENST00000445677:exon23:c.C4121G:p.S1374C;ENSG00000134775:ENST00000592128:exon9:c.C1172G:p.S391C;	0.86893582423334	0.658
18	34349387	C	T	18	36769424	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon24:c.C4235T:p.S1412F;FHOD3:NM_001281740:exon28:c.C4784T:p.S1595F;FHOD3:NM_001281739:exon23:c.C4184T:p.S1395F;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.C4184T:p.S1395F;ENSG00000134775:ENST00000257209:exon24:c.C4235T:p.S1412F;ENSG00000134775:ENST00000591635:exon16:c.C1823T:p.S608F;ENSG00000134775:ENST00000590592:exon28:c.C4784T:p.S1595F;ENSG00000134775:ENST00000445677:exon23:c.C4121T:p.S1374F;ENSG00000134775:ENST00000592128:exon9:c.C1172T:p.S391F;	0.998636190076213	0.938
18	34349388	T	A	18	36769425	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon24:c.T4236A:p.S1412S;FHOD3:NM_001281740:exon28:c.T4785A:p.S1595S;FHOD3:NM_001281739:exon23:c.T4185A:p.S1395S;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.T4185A:p.S1395S;ENSG00000134775:ENST00000257209:exon24:c.T4236A:p.S1412S;ENSG00000134775:ENST00000591635:exon16:c.T1824A:p.S608S;ENSG00000134775:ENST00000590592:exon28:c.T4785A:p.S1595S;ENSG00000134775:ENST00000445677:exon23:c.T4122A:p.S1374S;ENSG00000134775:ENST00000592128:exon9:c.T1173A:p.S391S;	8.9096243500571E-4	0.178
18	34349388	T	C	18	36769425	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon24:c.T4236C:p.S1412S;FHOD3:NM_001281740:exon28:c.T4785C:p.S1595S;FHOD3:NM_001281739:exon23:c.T4185C:p.S1395S;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.T4185C:p.S1395S;ENSG00000134775:ENST00000257209:exon24:c.T4236C:p.S1412S;ENSG00000134775:ENST00000591635:exon16:c.T1824C:p.S608S;ENSG00000134775:ENST00000590592:exon28:c.T4785C:p.S1595S;ENSG00000134775:ENST00000445677:exon23:c.T4122C:p.S1374S;ENSG00000134775:ENST00000592128:exon9:c.T1173C:p.S391S;	0.0113344075014017	0.078
18	34349388	T	G	18	36769425	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon24:c.T4236G:p.S1412S;FHOD3:NM_001281740:exon28:c.T4785G:p.S1595S;FHOD3:NM_001281739:exon23:c.T4185G:p.S1395S;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.T4185G:p.S1395S;ENSG00000134775:ENST00000257209:exon24:c.T4236G:p.S1412S;ENSG00000134775:ENST00000591635:exon16:c.T1824G:p.S608S;ENSG00000134775:ENST00000590592:exon28:c.T4785G:p.S1595S;ENSG00000134775:ENST00000445677:exon23:c.T4122G:p.S1374S;ENSG00000134775:ENST00000592128:exon9:c.T1173G:p.S391S;	0.0180501842692098	0.208
18	34349389	T	A	18	36769426	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon24:c.T4237A:p.L1413M;FHOD3:NM_001281740:exon28:c.T4786A:p.L1596M;FHOD3:NM_001281739:exon23:c.T4186A:p.L1396M;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.T4186A:p.L1396M;ENSG00000134775:ENST00000257209:exon24:c.T4237A:p.L1413M;ENSG00000134775:ENST00000591635:exon16:c.T1825A:p.L609M;ENSG00000134775:ENST00000590592:exon28:c.T4786A:p.L1596M;ENSG00000134775:ENST00000445677:exon23:c.T4123A:p.L1375M;ENSG00000134775:ENST00000592128:exon9:c.T1174A:p.L392M;	5.50772687866837E-5	0.134
18	34349389	T	C	18	36769426	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon24:c.T4237C:p.L1413L;FHOD3:NM_001281740:exon28:c.T4786C:p.L1596L;FHOD3:NM_001281739:exon23:c.T4186C:p.L1396L;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.T4186C:p.L1396L;ENSG00000134775:ENST00000257209:exon24:c.T4237C:p.L1413L;ENSG00000134775:ENST00000591635:exon16:c.T1825C:p.L609L;ENSG00000134775:ENST00000590592:exon28:c.T4786C:p.L1596L;ENSG00000134775:ENST00000445677:exon23:c.T4123C:p.L1375L;ENSG00000134775:ENST00000592128:exon9:c.T1174C:p.L392L;	1.01510859620155E-4	0.022
18	34349389	T	G	18	36769426	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon24:c.T4237G:p.L1413V;FHOD3:NM_001281740:exon28:c.T4786G:p.L1596V;FHOD3:NM_001281739:exon23:c.T4186G:p.L1396V;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon23:c.T4186G:p.L1396V;ENSG00000134775:ENST00000257209:exon24:c.T4237G:p.L1413V;ENSG00000134775:ENST00000591635:exon16:c.T1825G:p.L609V;ENSG00000134775:ENST00000590592:exon28:c.T4786G:p.L1596V;ENSG00000134775:ENST00000445677:exon23:c.T4123G:p.L1375V;ENSG00000134775:ENST00000592128:exon9:c.T1174G:p.L392V;	8.44699944014953E-5	0.326
18	34349390	G	A	18	36769427	y	y	splicing	FHOD3(NM_025135:exon24:c.4237+1G>A;NM_001281740:exon28:c.4786+1G>A;NM_001281739:exon23:c.4186+1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4237+1G>A;ENST00000445677:exon23:c.4123+1G>A;ENST00000359247:exon23:c.4186+1G>A;ENST00000590592:exon28:c.4786+1G>A;ENST00000591635:exon16:c.1825+1G>A;ENST00000592930:exon17:c.3518+1G>A;ENST00000592128:exon9:c.1174+1G>A;ENST00000585579:exon7:c.1112+1G>A)	.	.	0.999981760802075	0.938
18	34349390	G	C	18	36769427	y	y	splicing	FHOD3(NM_025135:exon24:c.4237+1G>C;NM_001281740:exon28:c.4786+1G>C;NM_001281739:exon23:c.4186+1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4237+1G>C;ENST00000445677:exon23:c.4123+1G>C;ENST00000359247:exon23:c.4186+1G>C;ENST00000590592:exon28:c.4786+1G>C;ENST00000591635:exon16:c.1825+1G>C;ENST00000592930:exon17:c.3518+1G>C;ENST00000592128:exon9:c.1174+1G>C;ENST00000585579:exon7:c.1112+1G>C)	.	.	0.999981760802075	0.938
18	34349390	G	T	18	36769427	y	y	splicing	FHOD3(NM_025135:exon24:c.4237+1G>T;NM_001281740:exon28:c.4786+1G>T;NM_001281739:exon23:c.4186+1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4237+1G>T;ENST00000445677:exon23:c.4123+1G>T;ENST00000359247:exon23:c.4186+1G>T;ENST00000590592:exon28:c.4786+1G>T;ENST00000591635:exon16:c.1825+1G>T;ENST00000592930:exon17:c.3518+1G>T;ENST00000592128:exon9:c.1174+1G>T;ENST00000585579:exon7:c.1112+1G>T)	.	.	0.999981760802075	0.938
18	34349391	T	A	18	36769428	y	y	splicing	FHOD3(NM_025135:exon24:c.4237+2T>A;NM_001281740:exon28:c.4786+2T>A;NM_001281739:exon23:c.4186+2T>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4237+2T>A;ENST00000445677:exon23:c.4123+2T>A;ENST00000359247:exon23:c.4186+2T>A;ENST00000590592:exon28:c.4786+2T>A;ENST00000591635:exon16:c.1825+2T>A;ENST00000592930:exon17:c.3518+2T>A;ENST00000592128:exon9:c.1174+2T>A;ENST00000585579:exon7:c.1112+2T>A)	.	.	0.999989917668626	0.928
18	34349391	T	C	18	36769428	y	y	splicing	FHOD3(NM_025135:exon24:c.4237+2T>C;NM_001281740:exon28:c.4786+2T>C;NM_001281739:exon23:c.4186+2T>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4237+2T>C;ENST00000445677:exon23:c.4123+2T>C;ENST00000359247:exon23:c.4186+2T>C;ENST00000590592:exon28:c.4786+2T>C;ENST00000591635:exon16:c.1825+2T>C;ENST00000592930:exon17:c.3518+2T>C;ENST00000592128:exon9:c.1174+2T>C;ENST00000585579:exon7:c.1112+2T>C)	.	.	0.999939711763648	0.878
18	34349391	T	G	18	36769428	y	y	splicing	FHOD3(NM_025135:exon24:c.4237+2T>G;NM_001281740:exon28:c.4786+2T>G;NM_001281739:exon23:c.4186+2T>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon24:c.4237+2T>G;ENST00000445677:exon23:c.4123+2T>G;ENST00000359247:exon23:c.4186+2T>G;ENST00000590592:exon28:c.4786+2T>G;ENST00000591635:exon16:c.1825+2T>G;ENST00000592930:exon17:c.3518+2T>G;ENST00000592128:exon9:c.1174+2T>G;ENST00000585579:exon7:c.1112+2T>G)	.	.	0.999989917668626	0.928
18	34349392	G	A	18	36769429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	7.79458964355279E-5	0.0
18	34349392	G	C	18	36769429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997709352313854	0.656
18	34349392	G	T	18	36769429	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99698984952292	0.628
18	34349393	A	C	18	36769430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998725811993843	0.92
18	34349393	A	G	18	36769430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999729433768682	0.95
18	34349393	A	T	18	36769430	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999821171246429	0.94
18	34349394	G	A	18	36769431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999951184657654	0.988
18	34349394	G	C	18	36769431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999951184657654	0.986
18	34349394	G	T	18	36769431	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999931956775077	0.968
18	34349395	T	A	18	36769432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999162140375106	0.822
18	34349395	T	C	18	36769432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998005787009465	0.986
18	34349395	T	G	18	36769432	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.996128411156361	0.922
18	34349396	G	A	18	36769433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00207304177234855	0.018
18	34349396	G	C	18	36769433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00301075061243563	0.02
18	34349396	G	T	18	36769433	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00124463383059216	0.036
18	34349397	C	A	18	36769434	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.83474434022653E-4	0.04
18	34349397	C	G	18	36769434	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.1590322393265E-4	0.104
18	34349397	C	T	18	36769434	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.82183569754107E-4	0.01
18	34359399	C	A	18	36779436	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.39554859956642E-4	0.044
18	34359399	C	G	18	36779436	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.973858348031033	0.844
18	34359399	C	T	18	36779436	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.41475658311232E-5	0.004
18	34359400	C	A	18	36779437	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	3.6397299603131E-4	0.024
18	34359400	C	G	18	36779437	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.71040713639365E-4	0.036
18	34359400	C	T	18	36779437	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	6.89925739660516E-5	0.004
18	34359401	A	C	18	36779438	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.15941453541388E-5	0.002
18	34359401	A	G	18	36779438	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.15941453541388E-5	0.004
18	34359401	A	T	18	36779438	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.15941453541388E-5	0.002
18	34359402	C	A	18	36779439	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00343940416952919	0.11
18	34359402	C	G	18	36779439	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.99830286999451	0.982
18	34359402	C	T	18	36779439	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.68952365742707E-5	0.014
18	34359403	C	A	18	36779440	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.54841911539596E-5	0.086
18	34359403	C	G	18	36779440	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	9.12263958548324E-4	0.12
18	34359403	C	T	18	36779440	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.83169415253439E-5	0.0
18	34359404	A	C	18	36779441	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.72574789847114E-5	0.008
18	34359404	A	G	18	36779441	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.82327374018247E-5	0.006
18	34359404	A	T	18	36779441	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.72574789847114E-5	0.016
18	34359405	C	A	18	36779442	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	5.40063601046656E-4	0.13
18	34359405	C	G	18	36779442	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.997214144938726	0.946
18	34359405	C	T	18	36779442	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	4.99839321085983E-5	0.012
18	34359406	T	A	18	36779443	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.999318244776929	0.964
18	34359406	T	C	18	36779443	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.00597862622315E-4	0.098
18	34359406	T	G	18	36779443	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.778956352040092	0.58
18	34359407	G	A	18	36779444	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	2.3006104951436E-4	0.048
18	34359407	G	C	18	36779444	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	8.71037690926497E-5	0.014
18	34359407	G	T	18	36779444	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	1.16542396063584E-4	0.042
18	34359408	C	A	18	36779445	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.987706262054708	0.804
18	34359408	C	G	18	36779445	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.998566136672708	0.764
18	34359408	C	T	18	36779445	y	y	intronic	FHOD3	.	.	intronic	ENSG00000134775	.	.	0.00168466741938882	0.228
18	34359409	A	C	18	36779446	y	y	splicing	FHOD3(NM_025135:exon25:c.4238-2A>C;NM_001281740:exon29:c.4787-2A>C;NM_001281739:exon24:c.4187-2A>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon25:c.4238-2A>C;ENST00000445677:exon24:c.4124-2A>C;ENST00000359247:exon24:c.4187-2A>C;ENST00000590592:exon29:c.4787-2A>C;ENST00000591635:exon17:c.1826-2A>C;ENST00000592930:exon18:c.3519-2A>C;ENST00000592128:exon10:c.1175-2A>C;ENST00000585579:exon8:c.1113-2A>C)	.	.	0.99990512343176	0.882
18	34359409	A	G	18	36779446	y	y	splicing	FHOD3(NM_025135:exon25:c.4238-2A>G;NM_001281740:exon29:c.4787-2A>G;NM_001281739:exon24:c.4187-2A>G)	.	.	splicing	ENSG00000134775(ENST00000257209:exon25:c.4238-2A>G;ENST00000445677:exon24:c.4124-2A>G;ENST00000359247:exon24:c.4187-2A>G;ENST00000590592:exon29:c.4787-2A>G;ENST00000591635:exon17:c.1826-2A>G;ENST00000592930:exon18:c.3519-2A>G;ENST00000592128:exon10:c.1175-2A>G;ENST00000585579:exon8:c.1113-2A>G)	.	.	0.99990512343176	0.892
18	34359409	A	T	18	36779446	y	y	splicing	FHOD3(NM_025135:exon25:c.4238-2A>T;NM_001281740:exon29:c.4787-2A>T;NM_001281739:exon24:c.4187-2A>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon25:c.4238-2A>T;ENST00000445677:exon24:c.4124-2A>T;ENST00000359247:exon24:c.4187-2A>T;ENST00000590592:exon29:c.4787-2A>T;ENST00000591635:exon17:c.1826-2A>T;ENST00000592930:exon18:c.3519-2A>T;ENST00000592128:exon10:c.1175-2A>T;ENST00000585579:exon8:c.1113-2A>T)	.	.	0.999930675673579	0.92
18	34359410	G	A	18	36779447	y	y	splicing	FHOD3(NM_025135:exon25:c.4238-1G>A;NM_001281740:exon29:c.4787-1G>A;NM_001281739:exon24:c.4187-1G>A)	.	.	splicing	ENSG00000134775(ENST00000257209:exon25:c.4238-1G>A;ENST00000445677:exon24:c.4124-1G>A;ENST00000359247:exon24:c.4187-1G>A;ENST00000590592:exon29:c.4787-1G>A;ENST00000591635:exon17:c.1826-1G>A;ENST00000592930:exon18:c.3519-1G>A;ENST00000592128:exon10:c.1175-1G>A;ENST00000585579:exon8:c.1113-1G>A)	.	.	0.999873695607264	0.908
18	34359410	G	C	18	36779447	y	y	splicing	FHOD3(NM_025135:exon25:c.4238-1G>C;NM_001281740:exon29:c.4787-1G>C;NM_001281739:exon24:c.4187-1G>C)	.	.	splicing	ENSG00000134775(ENST00000257209:exon25:c.4238-1G>C;ENST00000445677:exon24:c.4124-1G>C;ENST00000359247:exon24:c.4187-1G>C;ENST00000590592:exon29:c.4787-1G>C;ENST00000591635:exon17:c.1826-1G>C;ENST00000592930:exon18:c.3519-1G>C;ENST00000592128:exon10:c.1175-1G>C;ENST00000585579:exon8:c.1113-1G>C)	.	.	0.999827144722988	0.866
18	34359410	G	T	18	36779447	y	y	splicing	FHOD3(NM_025135:exon25:c.4238-1G>T;NM_001281740:exon29:c.4787-1G>T;NM_001281739:exon24:c.4187-1G>T)	.	.	splicing	ENSG00000134775(ENST00000257209:exon25:c.4238-1G>T;ENST00000445677:exon24:c.4124-1G>T;ENST00000359247:exon24:c.4187-1G>T;ENST00000590592:exon29:c.4787-1G>T;ENST00000591635:exon17:c.1826-1G>T;ENST00000592930:exon18:c.3519-1G>T;ENST00000592128:exon10:c.1175-1G>T;ENST00000585579:exon8:c.1113-1G>T)	.	.	0.999873695607264	0.908
18	34359411	T	A	18	36779448	y	y	exonic	FHOD3	stopgain SNV	FHOD3:NM_025135:exon25:c.T4238A:p.L1413X;FHOD3:NM_001281740:exon29:c.T4787A:p.L1596X;FHOD3:NM_001281739:exon24:c.T4187A:p.L1396X;	exonic	ENSG00000134775	stopgain SNV	ENSG00000134775:ENST00000359247:exon24:c.T4187A:p.L1396X;ENSG00000134775:ENST00000257209:exon25:c.T4238A:p.L1413X;ENSG00000134775:ENST00000591635:exon17:c.T1826A:p.L609X;ENSG00000134775:ENST00000590592:exon29:c.T4787A:p.L1596X;ENSG00000134775:ENST00000445677:exon24:c.T4124A:p.L1375X;ENSG00000134775:ENST00000592128:exon10:c.T1175A:p.L392X;	0.840757149461828	0.822
18	34359411	T	C	18	36779448	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon25:c.T4238C:p.L1413S;FHOD3:NM_001281740:exon29:c.T4787C:p.L1596S;FHOD3:NM_001281739:exon24:c.T4187C:p.L1396S;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon24:c.T4187C:p.L1396S;ENSG00000134775:ENST00000257209:exon25:c.T4238C:p.L1413S;ENSG00000134775:ENST00000591635:exon17:c.T1826C:p.L609S;ENSG00000134775:ENST00000590592:exon29:c.T4787C:p.L1596S;ENSG00000134775:ENST00000445677:exon24:c.T4124C:p.L1375S;ENSG00000134775:ENST00000592128:exon10:c.T1175C:p.L392S;	0.230190988431315	0.476
18	34359411	T	G	18	36779448	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon25:c.T4238G:p.L1413W;FHOD3:NM_001281740:exon29:c.T4787G:p.L1596W;FHOD3:NM_001281739:exon24:c.T4187G:p.L1396W;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon24:c.T4187G:p.L1396W;ENSG00000134775:ENST00000257209:exon25:c.T4238G:p.L1413W;ENSG00000134775:ENST00000591635:exon17:c.T1826G:p.L609W;ENSG00000134775:ENST00000590592:exon29:c.T4787G:p.L1596W;ENSG00000134775:ENST00000445677:exon24:c.T4124G:p.L1375W;ENSG00000134775:ENST00000592128:exon10:c.T1175G:p.L392W;	0.407023942861682	0.592
18	34359412	G	A	18	36779449	y	y	exonic	FHOD3	synonymous SNV	FHOD3:NM_025135:exon25:c.G4239A:p.L1413L;FHOD3:NM_001281740:exon29:c.G4788A:p.L1596L;FHOD3:NM_001281739:exon24:c.G4188A:p.L1396L;	exonic	ENSG00000134775	synonymous SNV	ENSG00000134775:ENST00000359247:exon24:c.G4188A:p.L1396L;ENSG00000134775:ENST00000257209:exon25:c.G4239A:p.L1413L;ENSG00000134775:ENST00000591635:exon17:c.G1827A:p.L609L;ENSG00000134775:ENST00000590592:exon29:c.G4788A:p.L1596L;ENSG00000134775:ENST00000445677:exon24:c.G4125A:p.L1375L;ENSG00000134775:ENST00000592128:exon10:c.G1176A:p.L392L;	1.61339989426583E-4	0.03
18	34359412	G	C	18	36779449	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon25:c.G4239C:p.L1413F;FHOD3:NM_001281740:exon29:c.G4788C:p.L1596F;FHOD3:NM_001281739:exon24:c.G4188C:p.L1396F;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon24:c.G4188C:p.L1396F;ENSG00000134775:ENST00000257209:exon25:c.G4239C:p.L1413F;ENSG00000134775:ENST00000591635:exon17:c.G1827C:p.L609F;ENSG00000134775:ENST00000590592:exon29:c.G4788C:p.L1596F;ENSG00000134775:ENST00000445677:exon24:c.G4125C:p.L1375F;ENSG00000134775:ENST00000592128:exon10:c.G1176C:p.L392F;	1.05482196236686E-4	0.01
18	34359412	G	T	18	36779449	y	y	exonic	FHOD3	nonsynonymous SNV	FHOD3:NM_025135:exon25:c.G4239T:p.L1413F;FHOD3:NM_001281740:exon29:c.G4788T:p.L1596F;FHOD3:NM_001281739:exon24:c.G4188T:p.L1396F;	exonic	ENSG00000134775	nonsynonymous SNV	ENSG00000134775:ENST00000359247:exon24:c.G4188T:p.L1396F;ENSG00000134775:ENST00000257209:exon25:c.G4239T:p.L1413F;ENSG00000134775:ENST00000591635:exon17:c.G1827T:p.L609F;ENSG00000134775:ENST00000590592:exon29:c.G4788T:p.L1596F;ENSG00000134775:ENST00000445677:exon24:c.G4125T:p.L1375F;ENSG00000134775:ENST00000592128:exon10:c.G1176T:p.L392F;	1.05482196236686E-4	0.044
18	34360150	G	A	18	36780187	y	n	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271956:exon7:c.C659T:p.P220L;	downstream	ENSG00000134775	.	.	4.49778138453998E-5	0.0
18	34360150	G	C	18	36780187	y	n	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271956:exon7:c.C659G:p.P220R;	downstream	ENSG00000134775	.	.	4.34150215537742E-5	0.0
18	34360150	G	T	18	36780187	y	n	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271956:exon7:c.C659A:p.P220H;	downstream	ENSG00000134775	.	.	4.34150215537742E-5	0.0
18	34360151	G	A	18	36780188	y	n	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271956:exon7:c.C658T:p.P220S;	downstream	ENSG00000134775	.	.	1.49895858778046E-5	0.0
18	34360151	G	C	18	36780188	y	n	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271956:exon7:c.C658G:p.P220A;	downstream	ENSG00000134775	.	.	1.49895858778046E-5	0.004
18	34360151	G	T	18	36780188	y	n	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271956:exon7:c.C658A:p.P220T;	downstream	ENSG00000134775	.	.	1.49895858778046E-5	0.002
18	34360152	C	A	18	36780189	y	n	splicing	TPGS2(NM_001271956:exon8:c.658-1G>T)	.	.	downstream	ENSG00000134775	.	.	6.38113264713725E-5	0.014
18	34360152	C	G	18	36780189	y	n	splicing	TPGS2(NM_001271956:exon8:c.658-1G>C)	.	.	downstream	ENSG00000134775	.	.	8.53292460361593E-5	0.036
18	34360152	C	T	18	36780189	y	n	splicing	TPGS2(NM_001271956:exon8:c.658-1G>A)	.	.	downstream	ENSG00000134775	.	.	6.38113264713725E-5	0.012
18	34360153	T	A	18	36780190	y	n	splicing	TPGS2(NM_001271956:exon8:c.658-2A>T)	.	.	downstream	ENSG00000134775	.	.	1.09069125317345E-4	0.008
18	34360153	T	C	18	36780190	y	n	splicing	TPGS2(NM_001271956:exon8:c.658-2A>G)	.	.	downstream	ENSG00000134775	.	.	8.88018820604874E-5	0.01
18	34360153	T	G	18	36780190	y	n	splicing	TPGS2(NM_001271956:exon8:c.658-2A>C)	.	.	downstream	ENSG00000134775	.	.	1.07902708129146E-4	0.016
18	34360154	G	A	18	36780191	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.552751562108E-5	0.026
18	34360154	G	C	18	36780191	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.552751562108E-5	0.004
18	34360154	G	T	18	36780191	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.552751562108E-5	0.006
18	34360155	T	A	18	36780192	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	1.06520082605731E-4	0.0
18	34360155	T	C	18	36780192	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	5.86075475573093E-5	0.0
18	34360155	T	G	18	36780192	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	5.86075475573093E-5	0.0
18	34360156	A	C	18	36780193	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	1.70337218186484E-5	0.018
18	34360156	A	G	18	36780193	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	1.70337218186484E-5	0.002
18	34360156	A	T	18	36780193	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	1.70337218186484E-5	0.002
18	34360157	T	A	18	36780194	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	4.78293834274294E-4	0.036
18	34360157	T	C	18	36780194	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	2.65332719750715E-4	0.022
18	34360157	T	G	18	36780194	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	2.65332719750715E-4	0.022
18	34360158	T	A	18	36780195	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	2.96378818221959E-5	0.0
18	34360158	T	C	18	36780195	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	2.96378818221959E-5	0.0
18	34360158	T	G	18	36780195	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	2.96378818221959E-5	0.0
18	34360159	T	A	18	36780196	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.09332237519757E-5	0.038
18	34360159	T	C	18	36780196	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.09332237519757E-5	0.038
18	34360159	T	G	18	36780196	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.09332237519757E-5	0.038
18	34360160	T	A	18	36780197	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	1.44101454748109E-4	0.004
18	34360160	T	C	18	36780197	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	1.07902708129146E-4	0.004
18	34360160	T	G	18	36780197	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	1.07902708129146E-4	0.004
18	34360161	G	A	18	36780198	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.92297816354753E-5	0.0
18	34360161	G	C	18	36780198	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.92297816354753E-5	0.0
18	34360161	G	T	18	36780198	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.92297816354753E-5	0.0
18	34360162	T	A	18	36780199	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	1.09576087015442E-4	0.02
18	34360162	T	C	18	36780199	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.32453383485143E-5	0.0
18	34360162	T	G	18	36780199	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	6.32453383485143E-5	0.0
18	34360163	T	A	18	36780200	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	0.00676312259178108	0.022
18	34360163	T	C	18	36780200	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	0.00676312259178108	0.018
18	34360163	T	G	18	36780200	y	n	intronic	TPGS2	.	.	downstream	ENSG00000134775	.	.	0.00676312259178108	0.018
18	34363093	G	A	18	36783130	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587129:exon7:c.C659T:p.A220V;	2.59802355779309E-5	0.0
18	34363093	G	C	18	36783130	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587129:exon7:c.C659G:p.A220G;	2.59802355779309E-5	0.0
18	34363093	G	T	18	36783130	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587129:exon7:c.C659A:p.A220D;	2.59802355779309E-5	0.0
18	34363094	C	A	18	36783131	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587129:exon7:c.G658T:p.A220S;	8.33418952971026E-5	0.002
18	34363094	C	G	18	36783131	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587129:exon7:c.G658C:p.A220P;	4.00072023146173E-5	0.0
18	34363094	C	T	18	36783131	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587129:exon7:c.G658A:p.A220T;	9.4960356942388E-5	0.0
18	34363095	C	A	18	36783132	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587129:exon8:c.658-1G>T)	.	.	2.59802355779309E-5	0.0
18	34363095	C	G	18	36783132	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587129:exon8:c.658-1G>C)	.	.	2.59802355779309E-5	0.0
18	34363095	C	T	18	36783132	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587129:exon8:c.658-1G>A)	.	.	2.80332477406426E-5	0.002
18	34363096	T	A	18	36783133	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587129:exon8:c.658-2A>T)	.	.	5.31078313456842E-5	0.002
18	34363096	T	C	18	36783133	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587129:exon8:c.658-2A>G)	.	.	5.31078313456842E-5	0.004
18	34363096	T	G	18	36783133	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587129:exon8:c.658-2A>C)	.	.	5.31078313456842E-5	0.004
18	34363097	A	C	18	36783134	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.36340088948343E-5	0.002
18	34363097	A	G	18	36783134	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.36340088948343E-5	0.002
18	34363097	A	T	18	36783134	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.7586829694842E-5	0.0
18	34363098	T	A	18	36783135	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.83708300348738E-5	0.002
18	34363098	T	C	18	36783135	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.83708300348738E-5	0.002
18	34363098	T	G	18	36783135	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.83708300348738E-5	0.002
18	34363099	A	C	18	36783136	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.1020973109669E-5	0.0
18	34363099	A	G	18	36783136	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.1020973109669E-5	0.0
18	34363099	A	T	18	36783136	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.24975915077222E-5	0.0
18	34363100	A	C	18	36783137	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.48306501328221E-5	0.0
18	34363100	A	G	18	36783137	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.48306501328221E-5	0.0
18	34363100	A	T	18	36783137	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.25896182624293E-5	0.0
18	34363101	G	A	18	36783138	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.57076726553018E-5	0.0
18	34363101	G	C	18	36783138	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.57076726553018E-5	0.002
18	34363101	G	T	18	36783138	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.57076726553018E-5	0.0
18	34363102	A	C	18	36783139	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.99263190704948E-5	0.0
18	34363102	A	G	18	36783139	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.99263190704948E-5	0.0
18	34363102	A	T	18	36783139	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.1877777554816E-5	0.0
18	34363103	A	C	18	36783140	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.33132576485227E-5	0.0
18	34363103	A	G	18	36783140	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.33132576485227E-5	0.0
18	34363103	A	T	18	36783140	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.33132576485227E-5	0.0
18	34363104	A	C	18	36783141	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.7586829694842E-5	0.0
18	34363104	A	G	18	36783141	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.7586829694842E-5	0.004
18	34363104	A	T	18	36783141	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.64905445396362E-5	0.0
18	34363105	A	C	18	36783142	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.06352483601688E-4	0.004
18	34363105	A	G	18	36783142	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.06352483601688E-4	0.004
18	34363105	A	T	18	36783142	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.27855326596735E-4	0.004
18	34363106	A	C	18	36783143	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.2098061556474E-4	0.034
18	34363106	A	G	18	36783143	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.2098061556474E-4	0.034
18	34363106	A	T	18	36783143	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.89144243241324E-4	0.036
18	34367041	A	C	18	36787078	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271955:exon5:c.T384G:p.D128E;TPGS2:NM_001271951:exon7:c.T659G:p.I220R;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon7:c.T659G:p.I220R;	7.9176455368894E-4	0.088
18	34367041	A	G	18	36787078	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271951:exon7:c.T659C:p.I220T;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon7:c.T659C:p.I220T;	6.34849289810733E-4	0.124
18	34367041	A	T	18	36787078	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271955:exon5:c.T384A:p.D128E;TPGS2:NM_001271951:exon7:c.T659A:p.I220K;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon7:c.T659A:p.I220K;	3.5953494022657E-4	0.098
18	34367042	T	A	18	36787079	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271955:exon5:c.A383T:p.D128V;TPGS2:NM_001271951:exon7:c.A658T:p.I220L;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon7:c.A658T:p.I220L;	0.00195720423503729	0.116
18	34367042	T	C	18	36787079	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271955:exon5:c.A383G:p.D128G;TPGS2:NM_001271951:exon7:c.A658G:p.I220V;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon7:c.A658G:p.I220V;	7.63008541575646E-5	0.004
18	34367042	T	G	18	36787079	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271955:exon5:c.A383C:p.D128A;TPGS2:NM_001271951:exon7:c.A658C:p.I220L;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon7:c.A658C:p.I220L;	0.00796580542817782	0.12
18	34367043	C	A	18	36787080	y	y	splicing	TPGS2(NM_001271955:exon6:c.383-1G>T;NM_001271951:exon8:c.658-1G>T)	.	.	splicing	ENSG00000134779(ENST00000590842:exon8:c.658-1G>T)	.	.	0.999973681690923	0.782
18	34367043	C	G	18	36787080	y	y	splicing	TPGS2(NM_001271955:exon6:c.383-1G>C;NM_001271951:exon8:c.658-1G>C)	.	.	splicing	ENSG00000134779(ENST00000590842:exon8:c.658-1G>C)	.	.	0.999935688921598	0.762
18	34367043	C	T	18	36787080	y	y	splicing	TPGS2(NM_001271955:exon6:c.383-1G>A;NM_001271951:exon8:c.658-1G>A)	.	.	splicing	ENSG00000134779(ENST00000590842:exon8:c.658-1G>A)	.	.	0.999973681690923	0.78
18	34367044	T	A	18	36787081	y	y	splicing	TPGS2(NM_001271955:exon6:c.383-2A>T;NM_001271951:exon8:c.658-2A>T)	.	.	splicing	ENSG00000134779(ENST00000590842:exon8:c.658-2A>T)	.	.	0.998461844054988	0.6
18	34367044	T	C	18	36787081	y	y	splicing	TPGS2(NM_001271955:exon6:c.383-2A>G;NM_001271951:exon8:c.658-2A>G)	.	.	splicing	ENSG00000134779(ENST00000590842:exon8:c.658-2A>G)	.	.	0.998461844054988	0.596
18	34367044	T	G	18	36787081	y	y	splicing	TPGS2(NM_001271955:exon6:c.383-2A>C;NM_001271951:exon8:c.658-2A>C)	.	.	splicing	ENSG00000134779(ENST00000590842:exon8:c.658-2A>C)	.	.	0.998461844054988	0.596
18	34367045	G	A	18	36787082	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00405759271513523	0.154
18	34367045	G	C	18	36787082	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.99970777883743	0.682
18	34367045	G	T	18	36787082	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.99870137844585	0.854
18	34367046	G	A	18	36787083	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.24900639382705E-5	0.014
18	34367046	G	C	18	36787083	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.870599769969718	0.728
18	34367046	G	T	18	36787083	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.63200410815423E-5	0.014
18	34367047	T	A	18	36787084	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.61801658152649E-4	0.034
18	34367047	T	C	18	36787084	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.69159552422526E-4	0.096
18	34367047	T	G	18	36787084	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.61801658152649E-4	0.022
18	34367048	G	A	18	36787085	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.19431364819284E-5	0.01
18	34367048	G	C	18	36787085	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00280924453533009	0.19
18	34367048	G	T	18	36787085	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0127080341109955	0.202
18	34367049	C	A	18	36787086	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.88753453131672E-5	0.004
18	34367049	C	G	18	36787086	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.88753453131672E-5	0.002
18	34367049	C	T	18	36787086	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.03657830972748E-4	0.094
18	34367050	A	C	18	36787087	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.249201146894095	0.52
18	34367050	A	G	18	36787087	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.83571851146333E-4	0.022
18	34367050	A	T	18	36787087	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999939395097332	0.99
18	34367051	G	A	18	36787088	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.64577964052223E-4	0.0
18	34367051	G	C	18	36787088	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00142930450788744	0.132
18	34367051	G	T	18	36787088	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00163662147120425	0.098
18	34367052	A	C	18	36787089	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999579026773818	0.974
18	34367052	A	G	18	36787089	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00109765686784748	0.092
18	34367052	A	T	18	36787089	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.703151938276695	0.474
18	34367053	T	A	18	36787090	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00108844357426332	0.164
18	34367053	T	C	18	36787090	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.60684194139226E-4	0.01
18	34367053	T	G	18	36787090	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.47739768469114E-4	0.01
18	34367054	G	A	18	36787091	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58645906776164E-5	0.0
18	34367054	G	C	18	36787091	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.84586538004729E-4	0.046
18	34367054	G	T	18	36787091	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.57953592970175E-4	0.06
18	34370113	A	C	18	36790150	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	unknown	UNKNOWN	0.00218710983469158	0.216
18	34370113	A	G	18	36790150	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	unknown	UNKNOWN	0.00218710983469158	0.216
18	34370113	A	T	18	36790150	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	unknown	UNKNOWN	0.00218710983469158	0.238
18	34370114	C	A	18	36790151	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	unknown	UNKNOWN	1.01599285357161E-4	0.136
18	34370114	C	G	18	36790151	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	unknown	UNKNOWN	1.01599285357161E-4	0.138
18	34370114	C	T	18	36790151	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	unknown	UNKNOWN	1.01599285357161E-4	0.142
18	34370115	C	A	18	36790152	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587382:exon8:c.621-1G>T)	.	.	0.0164982320735135	0.226
18	34370115	C	G	18	36790152	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587382:exon8:c.621-1G>C)	.	.	0.0198356846406744	0.23
18	34370115	C	T	18	36790152	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587382:exon8:c.621-1G>A)	.	.	0.0164982320735135	0.22
18	34370116	T	A	18	36790153	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587382:exon8:c.621-2A>T)	.	.	3.51663867021635E-4	0.224
18	34370116	T	C	18	36790153	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587382:exon8:c.621-2A>G)	.	.	3.51663867021635E-4	0.194
18	34370116	T	G	18	36790153	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587382:exon8:c.621-2A>C)	.	.	3.51663867021635E-4	0.194
18	34370117	G	A	18	36790154	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.575133720014606	0.69
18	34370117	G	C	18	36790154	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.575133720014606	0.692
18	34370117	G	T	18	36790154	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.575133720014606	0.698
18	34370118	T	A	18	36790155	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.51267023470296E-4	0.182
18	34370118	T	C	18	36790155	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.03631369831761E-4	0.17
18	34370118	T	G	18	36790155	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.64964790105901E-4	0.174
18	34370119	G	A	18	36790156	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.3779450157057E-4	0.146
18	34370119	G	C	18	36790156	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.3779450157057E-4	0.15
18	34370119	G	T	18	36790156	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.3779450157057E-4	0.146
18	34370120	A	C	18	36790157	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.1250394136099E-5	0.058
18	34370120	A	G	18	36790157	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.1250394136099E-5	0.058
18	34370120	A	T	18	36790157	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.9781514856238E-5	0.056
18	34370121	G	A	18	36790158	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00940319692440329	0.194
18	34370121	G	C	18	36790158	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00940319692440329	0.158
18	34370121	G	T	18	36790158	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00940319692440329	0.194
18	34370122	T	A	18	36790159	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.23001098574388E-5	0.042
18	34370122	T	C	18	36790159	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.23001098574388E-5	0.04
18	34370122	T	G	18	36790159	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.23001098574388E-5	0.04
18	34370123	A	C	18	36790160	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.19705593713519E-5	0.11
18	34370123	A	G	18	36790160	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.19705593713519E-5	0.11
18	34370123	A	T	18	36790160	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.72473618811152E-5	0.106
18	34370124	T	A	18	36790161	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.03892017590656E-4	0.004
18	34370124	T	C	18	36790161	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.03892017590656E-4	0.004
18	34370124	T	G	18	36790161	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.03892017590656E-4	0.004
18	34370125	A	C	18	36790162	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.63800661513848E-4	0.04
18	34370125	A	G	18	36790162	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.63800661513848E-4	0.042
18	34370125	A	T	18	36790162	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.20889559634613E-5	0.038
18	34370126	A	C	18	36790163	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.60882082791902E-4	0.0
18	34370126	A	G	18	36790163	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.60882082791902E-4	0.0
18	34370126	A	T	18	36790163	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.60882082791902E-4	0.0
18	34377012	T	A	18	36797049	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271950:exon6:c.A530T:p.Q177L;TPGS2:NM_001271949:exon7:c.A554T:p.Q185L;TPGS2:NM_015476:exon7:c.A659T:p.Q220L;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000383056:exon6:c.A530T:p.Q177L;ENSG00000134779:ENST00000593035:exon7:c.A554T:p.Q185L;ENSG00000134779:ENST00000334295:exon7:c.A659T:p.Q220L;	0.830859123621159	0.846
18	34377012	T	C	18	36797049	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271950:exon6:c.A530G:p.Q177R;TPGS2:NM_001271949:exon7:c.A554G:p.Q185R;TPGS2:NM_015476:exon7:c.A659G:p.Q220R;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000383056:exon6:c.A530G:p.Q177R;ENSG00000134779:ENST00000593035:exon7:c.A554G:p.Q185R;ENSG00000134779:ENST00000334295:exon7:c.A659G:p.Q220R;	0.830859123621159	0.846
18	34377012	T	G	18	36797049	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271950:exon6:c.A530C:p.Q177P;TPGS2:NM_001271949:exon7:c.A554C:p.Q185P;TPGS2:NM_015476:exon7:c.A659C:p.Q220P;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000383056:exon6:c.A530C:p.Q177P;ENSG00000134779:ENST00000593035:exon7:c.A554C:p.Q185P;ENSG00000134779:ENST00000334295:exon7:c.A659C:p.Q220P;	0.830859123621159	0.852
18	34377013	G	A	18	36797050	y	y	exonic	TPGS2	stopgain SNV	TPGS2:NM_001271950:exon6:c.C529T:p.Q177X;TPGS2:NM_001271949:exon7:c.C553T:p.Q185X;TPGS2:NM_015476:exon7:c.C658T:p.Q220X;	exonic	ENSG00000134779	stopgain SNV	ENSG00000134779:ENST00000383056:exon6:c.C529T:p.Q177X;ENSG00000134779:ENST00000593035:exon7:c.C553T:p.Q185X;ENSG00000134779:ENST00000334295:exon7:c.C658T:p.Q220X;	0.991606195519055	0.956
18	34377013	G	C	18	36797050	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271950:exon6:c.C529G:p.Q177E;TPGS2:NM_001271949:exon7:c.C553G:p.Q185E;TPGS2:NM_015476:exon7:c.C658G:p.Q220E;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000383056:exon6:c.C529G:p.Q177E;ENSG00000134779:ENST00000593035:exon7:c.C553G:p.Q185E;ENSG00000134779:ENST00000334295:exon7:c.C658G:p.Q220E;	0.98940354016207	0.922
18	34377013	G	T	18	36797050	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271950:exon6:c.C529A:p.Q177K;TPGS2:NM_001271949:exon7:c.C553A:p.Q185K;TPGS2:NM_015476:exon7:c.C658A:p.Q220K;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000383056:exon6:c.C529A:p.Q177K;ENSG00000134779:ENST00000593035:exon7:c.C553A:p.Q185K;ENSG00000134779:ENST00000334295:exon7:c.C658A:p.Q220K;	0.988187220996545	0.92
18	34377014	C	A	18	36797051	y	y	splicing	TPGS2(NM_015476:exon8:c.658-1G>T;NM_001271949:exon8:c.553-1G>T;NM_001271950:exon7:c.529-1G>T)	.	.	splicing	ENSG00000134779(ENST00000334295:exon8:c.658-1G>T;ENST00000383056:exon7:c.529-1G>T;ENST00000593035:exon8:c.553-1G>T)	.	.	0.988187220996545	0.928
18	34377014	C	G	18	36797051	y	y	splicing	TPGS2(NM_015476:exon8:c.658-1G>C;NM_001271949:exon8:c.553-1G>C;NM_001271950:exon7:c.529-1G>C)	.	.	splicing	ENSG00000134779(ENST00000334295:exon8:c.658-1G>C;ENST00000383056:exon7:c.529-1G>C;ENST00000593035:exon8:c.553-1G>C)	.	.	0.988187220996545	0.928
18	34377014	C	T	18	36797051	y	y	splicing	TPGS2(NM_015476:exon8:c.658-1G>A;NM_001271949:exon8:c.553-1G>A;NM_001271950:exon7:c.529-1G>A)	.	.	splicing	ENSG00000134779(ENST00000334295:exon8:c.658-1G>A;ENST00000383056:exon7:c.529-1G>A;ENST00000593035:exon8:c.553-1G>A)	.	.	0.988187220996545	0.926
18	34377015	T	A	18	36797052	y	y	splicing	TPGS2(NM_015476:exon8:c.658-2A>T;NM_001271949:exon8:c.553-2A>T;NM_001271950:exon7:c.529-2A>T)	.	.	splicing	ENSG00000134779(ENST00000334295:exon8:c.658-2A>T;ENST00000383056:exon7:c.529-2A>T;ENST00000593035:exon8:c.553-2A>T)	.	.	0.846144652913286	0.848
18	34377015	T	C	18	36797052	y	y	splicing	TPGS2(NM_015476:exon8:c.658-2A>G;NM_001271949:exon8:c.553-2A>G;NM_001271950:exon7:c.529-2A>G)	.	.	splicing	ENSG00000134779(ENST00000334295:exon8:c.658-2A>G;ENST00000383056:exon7:c.529-2A>G;ENST00000593035:exon8:c.553-2A>G)	.	.	0.826113142629033	0.84
18	34377015	T	G	18	36797052	y	y	splicing	TPGS2(NM_015476:exon8:c.658-2A>C;NM_001271949:exon8:c.553-2A>C;NM_001271950:exon7:c.529-2A>C)	.	.	splicing	ENSG00000134779(ENST00000334295:exon8:c.658-2A>C;ENST00000383056:exon7:c.529-2A>C;ENST00000593035:exon8:c.553-2A>C)	.	.	0.826113142629033	0.84
18	34377016	G	A	18	36797053	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0501010916027844	0.174
18	34377016	G	C	18	36797053	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0312450068205507	0.068
18	34377016	G	T	18	36797053	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0420627857621314	0.1
18	34377017	T	A	18	36797054	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.46226529156369E-4	0.016
18	34377017	T	C	18	36797054	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.50014361262222E-4	0.008
18	34377017	T	G	18	36797054	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.50014361262222E-4	0.006
18	34377018	A	C	18	36797055	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.78010604312359E-4	0.004
18	34377018	A	G	18	36797055	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.78010604312359E-4	0.004
18	34377018	A	T	18	36797055	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.85729531884366E-4	0.004
18	34377019	A	C	18	36797056	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.57835689468231E-4	0.0
18	34377019	A	G	18	36797056	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.25132360502514E-4	0.0
18	34377019	A	T	18	36797056	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.57835689468231E-4	0.0
18	34377020	G	A	18	36797057	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00112105296231836	0.002
18	34377020	G	C	18	36797057	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00123558539255655	0.018
18	34377020	G	T	18	36797057	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00112105296231836	0.01
18	34377021	G	A	18	36797058	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0169741104462476	0.048
18	34377021	G	C	18	36797058	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0114711912866896	0.046
18	34377021	G	T	18	36797058	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.019557205456413	0.042
18	34377022	C	A	18	36797059	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0133179619087715	0.188
18	34377022	C	G	18	36797059	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0133179619087715	0.188
18	34377022	C	T	18	36797059	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0133179619087715	0.198
18	34377023	A	C	18	36797060	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.820382891466252	0.744
18	34377023	A	G	18	36797060	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.820382891466252	0.742
18	34377023	A	T	18	36797060	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.86185804558676	0.792
18	34377024	G	A	18	36797061	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.47503372442534E-5	0.14
18	34377024	G	C	18	36797061	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.47503372442534E-5	0.146
18	34377024	G	T	18	36797061	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.47503372442534E-5	0.158
18	34377025	A	C	18	36797062	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.648204302414743	0.72
18	34377025	A	G	18	36797062	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.648204302414743	0.718
18	34377025	A	T	18	36797062	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.795926566867344	0.738
18	34378571	T	A	18	36798608	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon6:c.A498T:p.A166A;TPGS2:NM_001271953:exon6:c.A498T:p.A166A;TPGS2:NM_001271950:exon5:c.A369T:p.A123A;TPGS2:NM_001271956:exon6:c.A498T:p.A166A;TPGS2:NM_001271952:exon7:c.A354T:p.A118A;TPGS2:NM_001271951:exon6:c.A498T:p.A166A;TPGS2:NM_001271949:exon6:c.A393T:p.A131A;TPGS2:NM_015476:exon6:c.A498T:p.A166A;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon6:c.A498T:p.A166A;ENSG00000134779:ENST00000589049:exon6:c.A498T:p.A166A;ENSG00000134779:ENST00000383056:exon5:c.A369T:p.A123A;ENSG00000134779:ENST00000587129:exon6:c.A498T:p.A166A;ENSG00000134779:ENST00000593035:exon6:c.A393T:p.A131A;ENSG00000134779:ENST00000334295:exon6:c.A498T:p.A166A;	1.12724463327993E-4	0.012
18	34378571	T	C	18	36798608	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon6:c.A498G:p.A166A;TPGS2:NM_001271953:exon6:c.A498G:p.A166A;TPGS2:NM_001271950:exon5:c.A369G:p.A123A;TPGS2:NM_001271956:exon6:c.A498G:p.A166A;TPGS2:NM_001271952:exon7:c.A354G:p.A118A;TPGS2:NM_001271951:exon6:c.A498G:p.A166A;TPGS2:NM_001271949:exon6:c.A393G:p.A131A;TPGS2:NM_015476:exon6:c.A498G:p.A166A;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon6:c.A498G:p.A166A;ENSG00000134779:ENST00000589049:exon6:c.A498G:p.A166A;ENSG00000134779:ENST00000383056:exon5:c.A369G:p.A123A;ENSG00000134779:ENST00000587129:exon6:c.A498G:p.A166A;ENSG00000134779:ENST00000593035:exon6:c.A393G:p.A131A;ENSG00000134779:ENST00000334295:exon6:c.A498G:p.A166A;	1.02832187489561E-4	0.008
18	34378571	T	G	18	36798608	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon6:c.A498C:p.A166A;TPGS2:NM_001271953:exon6:c.A498C:p.A166A;TPGS2:NM_001271950:exon5:c.A369C:p.A123A;TPGS2:NM_001271956:exon6:c.A498C:p.A166A;TPGS2:NM_001271952:exon7:c.A354C:p.A118A;TPGS2:NM_001271951:exon6:c.A498C:p.A166A;TPGS2:NM_001271949:exon6:c.A393C:p.A131A;TPGS2:NM_015476:exon6:c.A498C:p.A166A;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon6:c.A498C:p.A166A;ENSG00000134779:ENST00000589049:exon6:c.A498C:p.A166A;ENSG00000134779:ENST00000383056:exon5:c.A369C:p.A123A;ENSG00000134779:ENST00000587129:exon6:c.A498C:p.A166A;ENSG00000134779:ENST00000593035:exon6:c.A393C:p.A131A;ENSG00000134779:ENST00000334295:exon6:c.A498C:p.A166A;	2.93656238585195E-4	0.016
18	34378572	G	A	18	36798609	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon6:c.C497T:p.A166V;TPGS2:NM_001271953:exon6:c.C497T:p.A166V;TPGS2:NM_001271950:exon5:c.C368T:p.A123V;TPGS2:NM_001271956:exon6:c.C497T:p.A166V;TPGS2:NM_001271952:exon7:c.C353T:p.A118V;TPGS2:NM_001271951:exon6:c.C497T:p.A166V;TPGS2:NM_001271949:exon6:c.C392T:p.A131V;TPGS2:NM_015476:exon6:c.C497T:p.A166V;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon6:c.C497T:p.A166V;ENSG00000134779:ENST00000589049:exon6:c.C497T:p.A166V;ENSG00000134779:ENST00000383056:exon5:c.C368T:p.A123V;ENSG00000134779:ENST00000587129:exon6:c.C497T:p.A166V;ENSG00000134779:ENST00000593035:exon6:c.C392T:p.A131V;ENSG00000134779:ENST00000334295:exon6:c.C497T:p.A166V;	0.00115441575737132	0.056
18	34378572	G	C	18	36798609	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon6:c.C497G:p.A166G;TPGS2:NM_001271953:exon6:c.C497G:p.A166G;TPGS2:NM_001271950:exon5:c.C368G:p.A123G;TPGS2:NM_001271956:exon6:c.C497G:p.A166G;TPGS2:NM_001271952:exon7:c.C353G:p.A118G;TPGS2:NM_001271951:exon6:c.C497G:p.A166G;TPGS2:NM_001271949:exon6:c.C392G:p.A131G;TPGS2:NM_015476:exon6:c.C497G:p.A166G;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon6:c.C497G:p.A166G;ENSG00000134779:ENST00000589049:exon6:c.C497G:p.A166G;ENSG00000134779:ENST00000383056:exon5:c.C368G:p.A123G;ENSG00000134779:ENST00000587129:exon6:c.C497G:p.A166G;ENSG00000134779:ENST00000593035:exon6:c.C392G:p.A131G;ENSG00000134779:ENST00000334295:exon6:c.C497G:p.A166G;	3.52322333417412E-4	0.202
18	34378572	G	T	18	36798609	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon6:c.C497A:p.A166E;TPGS2:NM_001271953:exon6:c.C497A:p.A166E;TPGS2:NM_001271950:exon5:c.C368A:p.A123E;TPGS2:NM_001271956:exon6:c.C497A:p.A166E;TPGS2:NM_001271952:exon7:c.C353A:p.A118E;TPGS2:NM_001271951:exon6:c.C497A:p.A166E;TPGS2:NM_001271949:exon6:c.C392A:p.A131E;TPGS2:NM_015476:exon6:c.C497A:p.A166E;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon6:c.C497A:p.A166E;ENSG00000134779:ENST00000589049:exon6:c.C497A:p.A166E;ENSG00000134779:ENST00000383056:exon5:c.C368A:p.A123E;ENSG00000134779:ENST00000587129:exon6:c.C497A:p.A166E;ENSG00000134779:ENST00000593035:exon6:c.C392A:p.A131E;ENSG00000134779:ENST00000334295:exon6:c.C497A:p.A166E;	3.12719442467776E-5	0.066
18	34378573	C	A	18	36798610	y	y	splicing	TPGS2(NM_001271956:exon7:c.497-1G>T;NM_001271951:exon7:c.497-1G>T;NM_001271953:exon7:c.497-1G>T;NM_015476:exon7:c.497-1G>T;NM_001271949:exon7:c.392-1G>T;NM_001271950:exon6:c.368-1G>T;NM_001271954:exon7:c.497-1G>T;NM_001271952:exon8:c.353-1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon7:c.497-1G>T;ENST00000590842:exon7:c.497-1G>T;ENST00000591906:exon6:c.366-1G>T;ENST00000587382:exon7:c.460-1G>T;ENST00000334295:exon7:c.497-1G>T;ENST00000383056:exon6:c.368-1G>T;ENST00000593035:exon7:c.392-1G>T;ENST00000589049:exon7:c.497-1G>T;ENST00000591823:exon8:c.566-1G>T;ENST00000585635:exon8:c.659-1G>T)	.	.	0.999990361384395	0.936
18	34378573	C	G	18	36798610	y	y	splicing	TPGS2(NM_001271956:exon7:c.497-1G>C;NM_001271951:exon7:c.497-1G>C;NM_001271953:exon7:c.497-1G>C;NM_015476:exon7:c.497-1G>C;NM_001271949:exon7:c.392-1G>C;NM_001271950:exon6:c.368-1G>C;NM_001271954:exon7:c.497-1G>C;NM_001271952:exon8:c.353-1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon7:c.497-1G>C;ENST00000590842:exon7:c.497-1G>C;ENST00000591906:exon6:c.366-1G>C;ENST00000587382:exon7:c.460-1G>C;ENST00000334295:exon7:c.497-1G>C;ENST00000383056:exon6:c.368-1G>C;ENST00000593035:exon7:c.392-1G>C;ENST00000589049:exon7:c.497-1G>C;ENST00000591823:exon8:c.566-1G>C;ENST00000585635:exon8:c.659-1G>C)	.	.	0.999990361384395	0.936
18	34378573	C	T	18	36798610	y	y	splicing	TPGS2(NM_001271956:exon7:c.497-1G>A;NM_001271951:exon7:c.497-1G>A;NM_001271953:exon7:c.497-1G>A;NM_015476:exon7:c.497-1G>A;NM_001271949:exon7:c.392-1G>A;NM_001271950:exon6:c.368-1G>A;NM_001271954:exon7:c.497-1G>A;NM_001271952:exon8:c.353-1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon7:c.497-1G>A;ENST00000590842:exon7:c.497-1G>A;ENST00000591906:exon6:c.366-1G>A;ENST00000587382:exon7:c.460-1G>A;ENST00000334295:exon7:c.497-1G>A;ENST00000383056:exon6:c.368-1G>A;ENST00000593035:exon7:c.392-1G>A;ENST00000589049:exon7:c.497-1G>A;ENST00000591823:exon8:c.566-1G>A;ENST00000585635:exon8:c.659-1G>A)	.	.	0.999990361384395	0.936
18	34378574	T	A	18	36798611	y	y	splicing	TPGS2(NM_001271956:exon7:c.497-2A>T;NM_001271951:exon7:c.497-2A>T;NM_001271953:exon7:c.497-2A>T;NM_015476:exon7:c.497-2A>T;NM_001271949:exon7:c.392-2A>T;NM_001271950:exon6:c.368-2A>T;NM_001271954:exon7:c.497-2A>T;NM_001271952:exon8:c.353-2A>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon7:c.497-2A>T;ENST00000590842:exon7:c.497-2A>T;ENST00000591906:exon6:c.366-2A>T;ENST00000587382:exon7:c.460-2A>T;ENST00000334295:exon7:c.497-2A>T;ENST00000383056:exon6:c.368-2A>T;ENST00000593035:exon7:c.392-2A>T;ENST00000589049:exon7:c.497-2A>T;ENST00000591823:exon8:c.566-2A>T;ENST00000585635:exon8:c.659-2A>T)	.	.	0.999988247793601	0.932
18	34378574	T	C	18	36798611	y	y	splicing	TPGS2(NM_001271956:exon7:c.497-2A>G;NM_001271951:exon7:c.497-2A>G;NM_001271953:exon7:c.497-2A>G;NM_015476:exon7:c.497-2A>G;NM_001271949:exon7:c.392-2A>G;NM_001271950:exon6:c.368-2A>G;NM_001271954:exon7:c.497-2A>G;NM_001271952:exon8:c.353-2A>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon7:c.497-2A>G;ENST00000590842:exon7:c.497-2A>G;ENST00000591906:exon6:c.366-2A>G;ENST00000587382:exon7:c.460-2A>G;ENST00000334295:exon7:c.497-2A>G;ENST00000383056:exon6:c.368-2A>G;ENST00000593035:exon7:c.392-2A>G;ENST00000589049:exon7:c.497-2A>G;ENST00000591823:exon8:c.566-2A>G;ENST00000585635:exon8:c.659-2A>G)	.	.	0.999988247793601	0.932
18	34378574	T	G	18	36798611	y	y	splicing	TPGS2(NM_001271956:exon7:c.497-2A>C;NM_001271951:exon7:c.497-2A>C;NM_001271953:exon7:c.497-2A>C;NM_015476:exon7:c.497-2A>C;NM_001271949:exon7:c.392-2A>C;NM_001271950:exon6:c.368-2A>C;NM_001271954:exon7:c.497-2A>C;NM_001271952:exon8:c.353-2A>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon7:c.497-2A>C;ENST00000590842:exon7:c.497-2A>C;ENST00000591906:exon6:c.366-2A>C;ENST00000587382:exon7:c.460-2A>C;ENST00000334295:exon7:c.497-2A>C;ENST00000383056:exon6:c.368-2A>C;ENST00000593035:exon7:c.392-2A>C;ENST00000589049:exon7:c.497-2A>C;ENST00000591823:exon8:c.566-2A>C;ENST00000585635:exon8:c.659-2A>C)	.	.	0.999988247793601	0.932
18	34378575	G	A	18	36798612	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0162383804586206	0.058
18	34378575	G	C	18	36798612	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.994714906271349	0.888
18	34378575	G	T	18	36798612	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.926397883807071	0.754
18	34378576	A	C	18	36798613	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.23851772790536E-5	0.002
18	34378576	A	G	18	36798613	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.13346855141493E-4	0.002
18	34378576	A	T	18	36798613	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.27386918257906E-4	0.002
18	34378577	A	C	18	36798614	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.997531560938553	0.866
18	34378577	A	G	18	36798614	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.210229022418979	0.438
18	34378577	A	T	18	36798614	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.993761232906818	0.9
18	34378578	G	A	18	36798615	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.12808422518386E-5	0.0
18	34378578	G	C	18	36798615	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.963083527613826	0.856
18	34378578	G	T	18	36798615	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.17400631690434E-4	0.066
18	34378579	T	A	18	36798616	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.68904076410993E-5	0.0
18	34378579	T	C	18	36798616	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.0339478167547E-5	0.0
18	34378579	T	G	18	36798616	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.28151046579114E-5	0.0
18	34378580	A	C	18	36798617	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.86193585196685E-4	0.056
18	34378580	A	G	18	36798617	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.45438391099389E-5	0.0
18	34378580	A	T	18	36798617	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00349346816537677	0.038
18	34378581	G	A	18	36798618	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.63477745239631E-5	0.004
18	34378581	G	C	18	36798618	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0017943578754528	0.082
18	34378581	G	T	18	36798618	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00406792903583221	0.072
18	34378582	A	C	18	36798619	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0713001214894557	0.326
18	34378582	A	G	18	36798619	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.40515403744928E-5	0.02
18	34378582	A	T	18	36798619	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.011521356234338	0.14
18	34378583	A	C	18	36798620	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.514763930788013	0.53
18	34378583	A	G	18	36798620	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0797057957881871	0.15
18	34378583	A	T	18	36798620	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.843394674359464	0.67
18	34378584	G	A	18	36798621	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.21670231868576E-5	0.0
18	34378584	G	C	18	36798621	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.53664942810678E-5	0.024
18	34378584	G	T	18	36798621	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.31385013203678E-4	0.046
18	34380153	A	C	18	36800190	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.25211152755068E-5	0.0
18	34380153	A	G	18	36800190	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.25211152755068E-5	0.0
18	34380153	A	T	18	36800190	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.25211152755068E-5	0.0
18	34380154	T	A	18	36800191	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.40736759557739E-4	0.002
18	34380154	T	C	18	36800191	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.54404724015672E-5	0.0
18	34380154	T	G	18	36800191	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.54404724015672E-5	0.0
18	34380155	T	A	18	36800192	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.33672399958124E-5	0.0
18	34380155	T	C	18	36800192	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.34068581563378E-5	0.0
18	34380155	T	G	18	36800192	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.29155366008383E-4	0.016
18	34380156	C	A	18	36800193	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.624132211866558	0.536
18	34380156	C	G	18	36800193	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.484435671708611	0.546
18	34380156	C	T	18	36800193	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.608598523138015	0.592
18	34380157	T	A	18	36800194	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0627857092524372	0.334
18	34380157	T	C	18	36800194	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.16280796756969	0.38
18	34380157	T	G	18	36800194	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0517892286102941	0.31
18	34380158	T	A	18	36800195	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.875293616435903	0.576
18	34380158	T	C	18	36800195	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00141191303175582	0.078
18	34380158	T	G	18	36800195	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.505258632230945	0.56
18	34380159	A	C	18	36800196	y	y	splicing	TPGS2(NM_001271956:exon6:c.496+2T>G;NM_001271951:exon6:c.496+2T>G;NM_001271953:exon6:c.496+2T>G;NM_015476:exon6:c.496+2T>G;NM_001271949:exon6:c.391+2T>G;NM_001271950:exon5:c.367+2T>G;NM_001271954:exon6:c.496+2T>G;NM_001271952:exon7:c.352+2T>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.496+2T>G;ENST00000590842:exon6:c.496+2T>G;ENST00000591906:exon5:c.365+2T>G;ENST00000587382:exon6:c.459+2T>G;ENST00000334295:exon6:c.496+2T>G;ENST00000383056:exon5:c.367+2T>G;ENST00000593035:exon6:c.391+2T>G;ENST00000589049:exon6:c.496+2T>G;ENST00000591823:exon7:c.565+2T>G;ENST00000585635:exon7:c.658+2T>G)	.	.	0.999945652454398	0.934
18	34380159	A	G	18	36800196	y	y	splicing	TPGS2(NM_001271956:exon6:c.496+2T>C;NM_001271951:exon6:c.496+2T>C;NM_001271953:exon6:c.496+2T>C;NM_015476:exon6:c.496+2T>C;NM_001271949:exon6:c.391+2T>C;NM_001271950:exon5:c.367+2T>C;NM_001271954:exon6:c.496+2T>C;NM_001271952:exon7:c.352+2T>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.496+2T>C;ENST00000590842:exon6:c.496+2T>C;ENST00000591906:exon5:c.365+2T>C;ENST00000587382:exon6:c.459+2T>C;ENST00000334295:exon6:c.496+2T>C;ENST00000383056:exon5:c.367+2T>C;ENST00000593035:exon6:c.391+2T>C;ENST00000589049:exon6:c.496+2T>C;ENST00000591823:exon7:c.565+2T>C;ENST00000585635:exon7:c.658+2T>C)	.	.	0.95970203060346	0.56
18	34380159	A	T	18	36800196	y	y	splicing	TPGS2(NM_001271956:exon6:c.496+2T>A;NM_001271951:exon6:c.496+2T>A;NM_001271953:exon6:c.496+2T>A;NM_015476:exon6:c.496+2T>A;NM_001271949:exon6:c.391+2T>A;NM_001271950:exon5:c.367+2T>A;NM_001271954:exon6:c.496+2T>A;NM_001271952:exon7:c.352+2T>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.496+2T>A;ENST00000590842:exon6:c.496+2T>A;ENST00000591906:exon5:c.365+2T>A;ENST00000587382:exon6:c.459+2T>A;ENST00000334295:exon6:c.496+2T>A;ENST00000383056:exon5:c.367+2T>A;ENST00000593035:exon6:c.391+2T>A;ENST00000589049:exon6:c.496+2T>A;ENST00000591823:exon7:c.565+2T>A;ENST00000585635:exon7:c.658+2T>A)	.	.	0.999955521744805	0.932
18	34380160	C	A	18	36800197	y	y	splicing	TPGS2(NM_001271956:exon6:c.496+1G>T;NM_001271951:exon6:c.496+1G>T;NM_001271953:exon6:c.496+1G>T;NM_015476:exon6:c.496+1G>T;NM_001271949:exon6:c.391+1G>T;NM_001271950:exon5:c.367+1G>T;NM_001271954:exon6:c.496+1G>T;NM_001271952:exon7:c.352+1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.496+1G>T;ENST00000590842:exon6:c.496+1G>T;ENST00000591906:exon5:c.365+1G>T;ENST00000587382:exon6:c.459+1G>T;ENST00000334295:exon6:c.496+1G>T;ENST00000383056:exon5:c.367+1G>T;ENST00000593035:exon6:c.391+1G>T;ENST00000589049:exon6:c.496+1G>T;ENST00000591823:exon7:c.565+1G>T;ENST00000585635:exon7:c.658+1G>T)	.	.	0.99995545544995	0.932
18	34380160	C	G	18	36800197	y	y	splicing	TPGS2(NM_001271956:exon6:c.496+1G>C;NM_001271951:exon6:c.496+1G>C;NM_001271953:exon6:c.496+1G>C;NM_015476:exon6:c.496+1G>C;NM_001271949:exon6:c.391+1G>C;NM_001271950:exon5:c.367+1G>C;NM_001271954:exon6:c.496+1G>C;NM_001271952:exon7:c.352+1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.496+1G>C;ENST00000590842:exon6:c.496+1G>C;ENST00000591906:exon5:c.365+1G>C;ENST00000587382:exon6:c.459+1G>C;ENST00000334295:exon6:c.496+1G>C;ENST00000383056:exon5:c.367+1G>C;ENST00000593035:exon6:c.391+1G>C;ENST00000589049:exon6:c.496+1G>C;ENST00000591823:exon7:c.565+1G>C;ENST00000585635:exon7:c.658+1G>C)	.	.	0.99995545544995	0.934
18	34380160	C	T	18	36800197	y	y	splicing	TPGS2(NM_001271956:exon6:c.496+1G>A;NM_001271951:exon6:c.496+1G>A;NM_001271953:exon6:c.496+1G>A;NM_015476:exon6:c.496+1G>A;NM_001271949:exon6:c.391+1G>A;NM_001271950:exon5:c.367+1G>A;NM_001271954:exon6:c.496+1G>A;NM_001271952:exon7:c.352+1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.496+1G>A;ENST00000590842:exon6:c.496+1G>A;ENST00000591906:exon5:c.365+1G>A;ENST00000587382:exon6:c.459+1G>A;ENST00000334295:exon6:c.496+1G>A;ENST00000383056:exon5:c.367+1G>A;ENST00000593035:exon6:c.391+1G>A;ENST00000589049:exon6:c.496+1G>A;ENST00000591823:exon7:c.565+1G>A;ENST00000585635:exon7:c.658+1G>A)	.	.	0.999982737877662	0.932
18	34380161	C	A	18	36800198	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.G496T:p.A166S;TPGS2:NM_001271953:exon5:c.G496T:p.A166S;TPGS2:NM_001271950:exon4:c.G367T:p.A123S;TPGS2:NM_001271956:exon5:c.G496T:p.A166S;TPGS2:NM_001271952:exon6:c.G352T:p.A118S;TPGS2:NM_001271951:exon5:c.G496T:p.A166S;TPGS2:NM_001271949:exon5:c.G391T:p.A131S;TPGS2:NM_015476:exon5:c.G496T:p.A166S;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.G496T:p.A166S;ENSG00000134779:ENST00000589049:exon5:c.G496T:p.A166S;ENSG00000134779:ENST00000383056:exon4:c.G367T:p.A123S;ENSG00000134779:ENST00000587129:exon5:c.G496T:p.A166S;ENSG00000134779:ENST00000593035:exon5:c.G391T:p.A131S;ENSG00000134779:ENST00000334295:exon5:c.G496T:p.A166S;	0.999945004631673	0.964
18	34380161	C	G	18	36800198	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.G496C:p.A166P;TPGS2:NM_001271953:exon5:c.G496C:p.A166P;TPGS2:NM_001271950:exon4:c.G367C:p.A123P;TPGS2:NM_001271956:exon5:c.G496C:p.A166P;TPGS2:NM_001271952:exon6:c.G352C:p.A118P;TPGS2:NM_001271951:exon5:c.G496C:p.A166P;TPGS2:NM_001271949:exon5:c.G391C:p.A131P;TPGS2:NM_015476:exon5:c.G496C:p.A166P;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.G496C:p.A166P;ENSG00000134779:ENST00000589049:exon5:c.G496C:p.A166P;ENSG00000134779:ENST00000383056:exon4:c.G367C:p.A123P;ENSG00000134779:ENST00000587129:exon5:c.G496C:p.A166P;ENSG00000134779:ENST00000593035:exon5:c.G391C:p.A131P;ENSG00000134779:ENST00000334295:exon5:c.G496C:p.A166P;	0.999963421002766	0.93
18	34380161	C	T	18	36800198	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.G496A:p.A166T;TPGS2:NM_001271953:exon5:c.G496A:p.A166T;TPGS2:NM_001271950:exon4:c.G367A:p.A123T;TPGS2:NM_001271956:exon5:c.G496A:p.A166T;TPGS2:NM_001271952:exon6:c.G352A:p.A118T;TPGS2:NM_001271951:exon5:c.G496A:p.A166T;TPGS2:NM_001271949:exon5:c.G391A:p.A131T;TPGS2:NM_015476:exon5:c.G496A:p.A166T;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.G496A:p.A166T;ENSG00000134779:ENST00000589049:exon5:c.G496A:p.A166T;ENSG00000134779:ENST00000383056:exon4:c.G367A:p.A123T;ENSG00000134779:ENST00000587129:exon5:c.G496A:p.A166T;ENSG00000134779:ENST00000593035:exon5:c.G391A:p.A131T;ENSG00000134779:ENST00000334295:exon5:c.G496A:p.A166T;	0.999884253448264	0.924
18	34380162	T	A	18	36800199	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon5:c.A495T:p.P165P;TPGS2:NM_001271953:exon5:c.A495T:p.P165P;TPGS2:NM_001271950:exon4:c.A366T:p.P122P;TPGS2:NM_001271956:exon5:c.A495T:p.P165P;TPGS2:NM_001271952:exon6:c.A351T:p.P117P;TPGS2:NM_001271951:exon5:c.A495T:p.P165P;TPGS2:NM_001271949:exon5:c.A390T:p.P130P;TPGS2:NM_015476:exon5:c.A495T:p.P165P;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.A495T:p.P165P;ENSG00000134779:ENST00000589049:exon5:c.A495T:p.P165P;ENSG00000134779:ENST00000383056:exon4:c.A366T:p.P122P;ENSG00000134779:ENST00000587129:exon5:c.A495T:p.P165P;ENSG00000134779:ENST00000593035:exon5:c.A390T:p.P130P;ENSG00000134779:ENST00000334295:exon5:c.A495T:p.P165P;	0.635925097659256	0.5
18	34380162	T	C	18	36800199	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon5:c.A495G:p.P165P;TPGS2:NM_001271953:exon5:c.A495G:p.P165P;TPGS2:NM_001271950:exon4:c.A366G:p.P122P;TPGS2:NM_001271956:exon5:c.A495G:p.P165P;TPGS2:NM_001271952:exon6:c.A351G:p.P117P;TPGS2:NM_001271951:exon5:c.A495G:p.P165P;TPGS2:NM_001271949:exon5:c.A390G:p.P130P;TPGS2:NM_015476:exon5:c.A495G:p.P165P;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.A495G:p.P165P;ENSG00000134779:ENST00000589049:exon5:c.A495G:p.P165P;ENSG00000134779:ENST00000383056:exon4:c.A366G:p.P122P;ENSG00000134779:ENST00000587129:exon5:c.A495G:p.P165P;ENSG00000134779:ENST00000593035:exon5:c.A390G:p.P130P;ENSG00000134779:ENST00000334295:exon5:c.A495G:p.P165P;	0.623702001590995	0.598
18	34380162	T	G	18	36800199	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon5:c.A495C:p.P165P;TPGS2:NM_001271953:exon5:c.A495C:p.P165P;TPGS2:NM_001271950:exon4:c.A366C:p.P122P;TPGS2:NM_001271956:exon5:c.A495C:p.P165P;TPGS2:NM_001271952:exon6:c.A351C:p.P117P;TPGS2:NM_001271951:exon5:c.A495C:p.P165P;TPGS2:NM_001271949:exon5:c.A390C:p.P130P;TPGS2:NM_015476:exon5:c.A495C:p.P165P;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.A495C:p.P165P;ENSG00000134779:ENST00000589049:exon5:c.A495C:p.P165P;ENSG00000134779:ENST00000383056:exon4:c.A366C:p.P122P;ENSG00000134779:ENST00000587129:exon5:c.A495C:p.P165P;ENSG00000134779:ENST00000593035:exon5:c.A390C:p.P130P;ENSG00000134779:ENST00000334295:exon5:c.A495C:p.P165P;	0.643443317535589	0.626
18	34380163	G	A	18	36800200	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.C494T:p.P165L;TPGS2:NM_001271953:exon5:c.C494T:p.P165L;TPGS2:NM_001271950:exon4:c.C365T:p.P122L;TPGS2:NM_001271956:exon5:c.C494T:p.P165L;TPGS2:NM_001271952:exon6:c.C350T:p.P117L;TPGS2:NM_001271951:exon5:c.C494T:p.P165L;TPGS2:NM_001271949:exon5:c.C389T:p.P130L;TPGS2:NM_015476:exon5:c.C494T:p.P165L;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C494T:p.P165L;ENSG00000134779:ENST00000589049:exon5:c.C494T:p.P165L;ENSG00000134779:ENST00000383056:exon4:c.C365T:p.P122L;ENSG00000134779:ENST00000587129:exon5:c.C494T:p.P165L;ENSG00000134779:ENST00000593035:exon5:c.C389T:p.P130L;ENSG00000134779:ENST00000334295:exon5:c.C494T:p.P165L;	0.99833607469884	0.724
18	34380163	G	C	18	36800200	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.C494G:p.P165R;TPGS2:NM_001271953:exon5:c.C494G:p.P165R;TPGS2:NM_001271950:exon4:c.C365G:p.P122R;TPGS2:NM_001271956:exon5:c.C494G:p.P165R;TPGS2:NM_001271952:exon6:c.C350G:p.P117R;TPGS2:NM_001271951:exon5:c.C494G:p.P165R;TPGS2:NM_001271949:exon5:c.C389G:p.P130R;TPGS2:NM_015476:exon5:c.C494G:p.P165R;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C494G:p.P165R;ENSG00000134779:ENST00000589049:exon5:c.C494G:p.P165R;ENSG00000134779:ENST00000383056:exon4:c.C365G:p.P122R;ENSG00000134779:ENST00000587129:exon5:c.C494G:p.P165R;ENSG00000134779:ENST00000593035:exon5:c.C389G:p.P130R;ENSG00000134779:ENST00000334295:exon5:c.C494G:p.P165R;	0.92945428139345	0.628
18	34380163	G	T	18	36800200	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.C494A:p.P165Q;TPGS2:NM_001271953:exon5:c.C494A:p.P165Q;TPGS2:NM_001271950:exon4:c.C365A:p.P122Q;TPGS2:NM_001271956:exon5:c.C494A:p.P165Q;TPGS2:NM_001271952:exon6:c.C350A:p.P117Q;TPGS2:NM_001271951:exon5:c.C494A:p.P165Q;TPGS2:NM_001271949:exon5:c.C389A:p.P130Q;TPGS2:NM_015476:exon5:c.C494A:p.P165Q;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C494A:p.P165Q;ENSG00000134779:ENST00000589049:exon5:c.C494A:p.P165Q;ENSG00000134779:ENST00000383056:exon4:c.C365A:p.P122Q;ENSG00000134779:ENST00000587129:exon5:c.C494A:p.P165Q;ENSG00000134779:ENST00000593035:exon5:c.C389A:p.P130Q;ENSG00000134779:ENST00000334295:exon5:c.C494A:p.P165Q;	0.958342556225306	0.79
18	34380273	G	A	18	36800310	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon5:c.C384T:p.A128A;TPGS2:NM_001271953:exon5:c.C384T:p.A128A;TPGS2:NM_001271950:exon4:c.C255T:p.A85A;TPGS2:NM_001271956:exon5:c.C384T:p.A128A;TPGS2:NM_001271952:exon6:c.C240T:p.A80A;TPGS2:NM_001271951:exon5:c.C384T:p.A128A;TPGS2:NM_001271949:exon5:c.C279T:p.A93A;TPGS2:NM_015476:exon5:c.C384T:p.A128A;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C384T:p.A128A;ENSG00000134779:ENST00000589049:exon5:c.C384T:p.A128A;ENSG00000134779:ENST00000383056:exon4:c.C255T:p.A85A;ENSG00000134779:ENST00000587129:exon5:c.C384T:p.A128A;ENSG00000134779:ENST00000593035:exon5:c.C279T:p.A93A;ENSG00000134779:ENST00000334295:exon5:c.C384T:p.A128A;	4.99720583045014E-5	0.0
18	34380273	G	C	18	36800310	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon5:c.C384G:p.A128A;TPGS2:NM_001271953:exon5:c.C384G:p.A128A;TPGS2:NM_001271950:exon4:c.C255G:p.A85A;TPGS2:NM_001271956:exon5:c.C384G:p.A128A;TPGS2:NM_001271952:exon6:c.C240G:p.A80A;TPGS2:NM_001271951:exon5:c.C384G:p.A128A;TPGS2:NM_001271949:exon5:c.C279G:p.A93A;TPGS2:NM_015476:exon5:c.C384G:p.A128A;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C384G:p.A128A;ENSG00000134779:ENST00000589049:exon5:c.C384G:p.A128A;ENSG00000134779:ENST00000383056:exon4:c.C255G:p.A85A;ENSG00000134779:ENST00000587129:exon5:c.C384G:p.A128A;ENSG00000134779:ENST00000593035:exon5:c.C279G:p.A93A;ENSG00000134779:ENST00000334295:exon5:c.C384G:p.A128A;	5.88193151172425E-5	0.0
18	34380273	G	T	18	36800310	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon5:c.C384A:p.A128A;TPGS2:NM_001271953:exon5:c.C384A:p.A128A;TPGS2:NM_001271950:exon4:c.C255A:p.A85A;TPGS2:NM_001271956:exon5:c.C384A:p.A128A;TPGS2:NM_001271952:exon6:c.C240A:p.A80A;TPGS2:NM_001271951:exon5:c.C384A:p.A128A;TPGS2:NM_001271949:exon5:c.C279A:p.A93A;TPGS2:NM_015476:exon5:c.C384A:p.A128A;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C384A:p.A128A;ENSG00000134779:ENST00000589049:exon5:c.C384A:p.A128A;ENSG00000134779:ENST00000383056:exon4:c.C255A:p.A85A;ENSG00000134779:ENST00000587129:exon5:c.C384A:p.A128A;ENSG00000134779:ENST00000593035:exon5:c.C279A:p.A93A;ENSG00000134779:ENST00000334295:exon5:c.C384A:p.A128A;	6.44717118589366E-5	0.0
18	34380274	G	A	18	36800311	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.C383T:p.A128V;TPGS2:NM_001271953:exon5:c.C383T:p.A128V;TPGS2:NM_001271950:exon4:c.C254T:p.A85V;TPGS2:NM_001271956:exon5:c.C383T:p.A128V;TPGS2:NM_001271952:exon6:c.C239T:p.A80V;TPGS2:NM_001271951:exon5:c.C383T:p.A128V;TPGS2:NM_001271949:exon5:c.C278T:p.A93V;TPGS2:NM_015476:exon5:c.C383T:p.A128V;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C383T:p.A128V;ENSG00000134779:ENST00000589049:exon5:c.C383T:p.A128V;ENSG00000134779:ENST00000383056:exon4:c.C254T:p.A85V;ENSG00000134779:ENST00000587129:exon5:c.C383T:p.A128V;ENSG00000134779:ENST00000593035:exon5:c.C278T:p.A93V;ENSG00000134779:ENST00000334295:exon5:c.C383T:p.A128V;	7.66820222461021E-4	0.116
18	34380274	G	C	18	36800311	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.C383G:p.A128G;TPGS2:NM_001271953:exon5:c.C383G:p.A128G;TPGS2:NM_001271950:exon4:c.C254G:p.A85G;TPGS2:NM_001271956:exon5:c.C383G:p.A128G;TPGS2:NM_001271952:exon6:c.C239G:p.A80G;TPGS2:NM_001271951:exon5:c.C383G:p.A128G;TPGS2:NM_001271949:exon5:c.C278G:p.A93G;TPGS2:NM_015476:exon5:c.C383G:p.A128G;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C383G:p.A128G;ENSG00000134779:ENST00000589049:exon5:c.C383G:p.A128G;ENSG00000134779:ENST00000383056:exon4:c.C254G:p.A85G;ENSG00000134779:ENST00000587129:exon5:c.C383G:p.A128G;ENSG00000134779:ENST00000593035:exon5:c.C278G:p.A93G;ENSG00000134779:ENST00000334295:exon5:c.C383G:p.A128G;	1.1746275716495E-4	0.124
18	34380274	G	T	18	36800311	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon5:c.C383A:p.A128D;TPGS2:NM_001271953:exon5:c.C383A:p.A128D;TPGS2:NM_001271950:exon4:c.C254A:p.A85D;TPGS2:NM_001271956:exon5:c.C383A:p.A128D;TPGS2:NM_001271952:exon6:c.C239A:p.A80D;TPGS2:NM_001271951:exon5:c.C383A:p.A128D;TPGS2:NM_001271949:exon5:c.C278A:p.A93D;TPGS2:NM_015476:exon5:c.C383A:p.A128D;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon5:c.C383A:p.A128D;ENSG00000134779:ENST00000589049:exon5:c.C383A:p.A128D;ENSG00000134779:ENST00000383056:exon4:c.C254A:p.A85D;ENSG00000134779:ENST00000587129:exon5:c.C383A:p.A128D;ENSG00000134779:ENST00000593035:exon5:c.C278A:p.A93D;ENSG00000134779:ENST00000334295:exon5:c.C383A:p.A128D;	2.89671292560489E-5	0.0
18	34380275	C	A	18	36800312	y	y	splicing	TPGS2(NM_001271956:exon6:c.383-1G>T;NM_001271951:exon6:c.383-1G>T;NM_001271953:exon6:c.383-1G>T;NM_015476:exon6:c.383-1G>T;NM_001271949:exon6:c.278-1G>T;NM_001271950:exon5:c.254-1G>T;NM_001271954:exon6:c.383-1G>T;NM_001271952:exon7:c.239-1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.383-1G>T;ENST00000590842:exon6:c.383-1G>T;ENST00000591906:exon5:c.252-1G>T;ENST00000587382:exon6:c.346-1G>T;ENST00000334295:exon6:c.383-1G>T;ENST00000383056:exon5:c.254-1G>T;ENST00000593035:exon6:c.278-1G>T;ENST00000589049:exon6:c.383-1G>T;ENST00000591823:exon7:c.452-1G>T;ENST00000585635:exon7:c.545-1G>T;ENST00000590692:exon7:c.471-1G>T)	.	.	0.999989125585301	0.944
18	34380275	C	G	18	36800312	y	y	splicing	TPGS2(NM_001271956:exon6:c.383-1G>C;NM_001271951:exon6:c.383-1G>C;NM_001271953:exon6:c.383-1G>C;NM_015476:exon6:c.383-1G>C;NM_001271949:exon6:c.278-1G>C;NM_001271950:exon5:c.254-1G>C;NM_001271954:exon6:c.383-1G>C;NM_001271952:exon7:c.239-1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.383-1G>C;ENST00000590842:exon6:c.383-1G>C;ENST00000591906:exon5:c.252-1G>C;ENST00000587382:exon6:c.346-1G>C;ENST00000334295:exon6:c.383-1G>C;ENST00000383056:exon5:c.254-1G>C;ENST00000593035:exon6:c.278-1G>C;ENST00000589049:exon6:c.383-1G>C;ENST00000591823:exon7:c.452-1G>C;ENST00000585635:exon7:c.545-1G>C;ENST00000590692:exon7:c.471-1G>C)	.	.	0.999989125585301	0.944
18	34380275	C	T	18	36800312	y	y	splicing	TPGS2(NM_001271956:exon6:c.383-1G>A;NM_001271951:exon6:c.383-1G>A;NM_001271953:exon6:c.383-1G>A;NM_015476:exon6:c.383-1G>A;NM_001271949:exon6:c.278-1G>A;NM_001271950:exon5:c.254-1G>A;NM_001271954:exon6:c.383-1G>A;NM_001271952:exon7:c.239-1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.383-1G>A;ENST00000590842:exon6:c.383-1G>A;ENST00000591906:exon5:c.252-1G>A;ENST00000587382:exon6:c.346-1G>A;ENST00000334295:exon6:c.383-1G>A;ENST00000383056:exon5:c.254-1G>A;ENST00000593035:exon6:c.278-1G>A;ENST00000589049:exon6:c.383-1G>A;ENST00000591823:exon7:c.452-1G>A;ENST00000585635:exon7:c.545-1G>A;ENST00000590692:exon7:c.471-1G>A)	.	.	0.999989125585301	0.944
18	34380276	T	A	18	36800313	y	y	splicing	TPGS2(NM_001271956:exon6:c.383-2A>T;NM_001271951:exon6:c.383-2A>T;NM_001271953:exon6:c.383-2A>T;NM_015476:exon6:c.383-2A>T;NM_001271949:exon6:c.278-2A>T;NM_001271950:exon5:c.254-2A>T;NM_001271954:exon6:c.383-2A>T;NM_001271952:exon7:c.239-2A>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.383-2A>T;ENST00000590842:exon6:c.383-2A>T;ENST00000591906:exon5:c.252-2A>T;ENST00000587382:exon6:c.346-2A>T;ENST00000334295:exon6:c.383-2A>T;ENST00000383056:exon5:c.254-2A>T;ENST00000593035:exon6:c.278-2A>T;ENST00000589049:exon6:c.383-2A>T;ENST00000591823:exon7:c.452-2A>T;ENST00000585635:exon7:c.545-2A>T;ENST00000590692:exon7:c.471-2A>T)	.	.	0.999986741007567	0.946
18	34380276	T	C	18	36800313	y	y	splicing	TPGS2(NM_001271956:exon6:c.383-2A>G;NM_001271951:exon6:c.383-2A>G;NM_001271953:exon6:c.383-2A>G;NM_015476:exon6:c.383-2A>G;NM_001271949:exon6:c.278-2A>G;NM_001271950:exon5:c.254-2A>G;NM_001271954:exon6:c.383-2A>G;NM_001271952:exon7:c.239-2A>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.383-2A>G;ENST00000590842:exon6:c.383-2A>G;ENST00000591906:exon5:c.252-2A>G;ENST00000587382:exon6:c.346-2A>G;ENST00000334295:exon6:c.383-2A>G;ENST00000383056:exon5:c.254-2A>G;ENST00000593035:exon6:c.278-2A>G;ENST00000589049:exon6:c.383-2A>G;ENST00000591823:exon7:c.452-2A>G;ENST00000585635:exon7:c.545-2A>G;ENST00000590692:exon7:c.471-2A>G)	.	.	0.999986741007567	0.946
18	34380276	T	G	18	36800313	y	y	splicing	TPGS2(NM_001271956:exon6:c.383-2A>C;NM_001271951:exon6:c.383-2A>C;NM_001271953:exon6:c.383-2A>C;NM_015476:exon6:c.383-2A>C;NM_001271949:exon6:c.278-2A>C;NM_001271950:exon5:c.254-2A>C;NM_001271954:exon6:c.383-2A>C;NM_001271952:exon7:c.239-2A>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon6:c.383-2A>C;ENST00000590842:exon6:c.383-2A>C;ENST00000591906:exon5:c.252-2A>C;ENST00000587382:exon6:c.346-2A>C;ENST00000334295:exon6:c.383-2A>C;ENST00000383056:exon5:c.254-2A>C;ENST00000593035:exon6:c.278-2A>C;ENST00000589049:exon6:c.383-2A>C;ENST00000591823:exon7:c.452-2A>C;ENST00000585635:exon7:c.545-2A>C;ENST00000590692:exon7:c.471-2A>C)	.	.	0.999986741007567	0.946
18	34380277	G	A	18	36800314	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00473710821329025	0.272
18	34380277	G	C	18	36800314	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999850431906829	0.94
18	34380277	G	T	18	36800314	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.987707315641523	0.816
18	34380278	C	A	18	36800315	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.53771640161617E-4	0.066
18	34380278	C	G	18	36800315	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.80714564716841E-4	0.056
18	34380278	C	T	18	36800315	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.72803924351181E-4	0.022
18	34380279	A	C	18	36800316	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.963203223424849	0.722
18	34380279	A	G	18	36800316	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0111673176138958	0.136
18	34380279	A	T	18	36800316	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999939663671994	0.984
18	34380280	A	C	18	36800317	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.98733243696028	0.796
18	34380280	A	G	18	36800317	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00814079729679214	0.148
18	34380280	A	T	18	36800317	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.990443386100358	0.882
18	34380281	A	C	18	36800318	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.606017493457713	0.43
18	34380281	A	G	18	36800318	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00242090718760079	0.2
18	34380281	A	T	18	36800318	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.863905829221544	0.662
18	34380282	C	A	18	36800319	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.67096443738753E-4	0.034
18	34380282	C	G	18	36800319	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.74779786086471E-4	0.048
18	34380282	C	T	18	36800319	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00100606355697286	0.178
18	34380283	C	A	18	36800320	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.07189067470573E-4	0.018
18	34380283	C	G	18	36800320	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.34162125947408E-4	0.006
18	34380283	C	T	18	36800320	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999684652193139	0.934
18	34380284	C	A	18	36800321	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00422672779871497	0.16
18	34380284	C	G	18	36800321	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0035091794723487	0.102
18	34380284	C	T	18	36800321	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.998651244878811	0.942
18	34380285	A	C	18	36800322	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999397863184869	0.962
18	34380285	A	G	18	36800322	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.984984363148712	0.702
18	34380285	A	T	18	36800322	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999983393496843	0.984
18	34380286	G	A	18	36800323	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0370389215054436	0.36
18	34380286	G	C	18	36800323	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0326545400543362	0.224
18	34380286	G	T	18	36800323	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.144404169853757	0.232
18	34385329	C	A	18	36805366	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.57699031090651E-5	0.004
18	34385329	C	G	18	36805366	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.94152959870587E-5	0.0
18	34385329	C	T	18	36805366	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.83299155123245E-5	0.002
18	34385330	T	A	18	36805367	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.06340469033229E-4	0.002
18	34385330	T	C	18	36805367	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.67864951622834E-4	0.0
18	34385330	T	G	18	36805367	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.35150343913691E-4	0.004
18	34385331	T	A	18	36805368	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.63770920074875E-4	0.01
18	34385331	T	C	18	36805368	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.75972642769476E-5	0.002
18	34385331	T	G	18	36805368	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.72318586959595E-4	0.032
18	34385332	C	A	18	36805369	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.997885168420097	0.65
18	34385332	C	G	18	36805369	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.917436671815726	0.542
18	34385332	C	T	18	36805369	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.603101593041314	0.452
18	34385333	C	A	18	36805370	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.34733690896339E-5	0.0
18	34385333	C	G	18	36805370	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.34733690896339E-5	0.002
18	34385333	C	T	18	36805370	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.00670318759882E-5	0.026
18	34385334	T	A	18	36805371	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.988192439504553	0.706
18	34385334	T	C	18	36805371	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.542229339544493	0.502
18	34385334	T	G	18	36805371	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.978712529379702	0.714
18	34385335	A	C	18	36805372	y	y	splicing	TPGS2(NM_001271956:exon5:c.382+2T>G;NM_001271955:exon5:c.382+2T>G;NM_001271951:exon5:c.382+2T>G;NM_001271953:exon5:c.382+2T>G;NM_015476:exon5:c.382+2T>G;NM_001271949:exon5:c.277+2T>G;NM_001271954:exon5:c.382+2T>G;NM_001271952:exon6:c.238+2T>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.382+2T>G;ENST00000590842:exon5:c.382+2T>G;ENST00000591906:exon4:c.251+2T>G;ENST00000587382:exon5:c.345+2T>G;ENST00000334295:exon5:c.382+2T>G;ENST00000593035:exon5:c.277+2T>G;ENST00000589049:exon5:c.382+2T>G;ENST00000591823:exon6:c.451+2T>G;ENST00000585635:exon6:c.544+2T>G;ENST00000590692:exon6:c.470+2T>G)	.	.	0.999968877568153	0.9
18	34385335	A	G	18	36805372	y	y	splicing	TPGS2(NM_001271956:exon5:c.382+2T>C;NM_001271955:exon5:c.382+2T>C;NM_001271951:exon5:c.382+2T>C;NM_001271953:exon5:c.382+2T>C;NM_015476:exon5:c.382+2T>C;NM_001271949:exon5:c.277+2T>C;NM_001271954:exon5:c.382+2T>C;NM_001271952:exon6:c.238+2T>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.382+2T>C;ENST00000590842:exon5:c.382+2T>C;ENST00000591906:exon4:c.251+2T>C;ENST00000587382:exon5:c.345+2T>C;ENST00000334295:exon5:c.382+2T>C;ENST00000593035:exon5:c.277+2T>C;ENST00000589049:exon5:c.382+2T>C;ENST00000591823:exon6:c.451+2T>C;ENST00000585635:exon6:c.544+2T>C;ENST00000590692:exon6:c.470+2T>C)	.	.	0.927830504430846	0.552
18	34385335	A	T	18	36805372	y	y	splicing	TPGS2(NM_001271956:exon5:c.382+2T>A;NM_001271955:exon5:c.382+2T>A;NM_001271951:exon5:c.382+2T>A;NM_001271953:exon5:c.382+2T>A;NM_015476:exon5:c.382+2T>A;NM_001271949:exon5:c.277+2T>A;NM_001271954:exon5:c.382+2T>A;NM_001271952:exon6:c.238+2T>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.382+2T>A;ENST00000590842:exon5:c.382+2T>A;ENST00000591906:exon4:c.251+2T>A;ENST00000587382:exon5:c.345+2T>A;ENST00000334295:exon5:c.382+2T>A;ENST00000593035:exon5:c.277+2T>A;ENST00000589049:exon5:c.382+2T>A;ENST00000591823:exon6:c.451+2T>A;ENST00000585635:exon6:c.544+2T>A;ENST00000590692:exon6:c.470+2T>A)	.	.	0.999968877568153	0.886
18	34385336	C	A	18	36805373	y	y	splicing	TPGS2(NM_001271956:exon5:c.382+1G>T;NM_001271955:exon5:c.382+1G>T;NM_001271951:exon5:c.382+1G>T;NM_001271953:exon5:c.382+1G>T;NM_015476:exon5:c.382+1G>T;NM_001271949:exon5:c.277+1G>T;NM_001271954:exon5:c.382+1G>T;NM_001271952:exon6:c.238+1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.382+1G>T;ENST00000590842:exon5:c.382+1G>T;ENST00000591906:exon4:c.251+1G>T;ENST00000587382:exon5:c.345+1G>T;ENST00000334295:exon5:c.382+1G>T;ENST00000593035:exon5:c.277+1G>T;ENST00000589049:exon5:c.382+1G>T;ENST00000591823:exon6:c.451+1G>T;ENST00000585635:exon6:c.544+1G>T;ENST00000590692:exon6:c.470+1G>T)	.	.	0.999951577146044	0.856
18	34385336	C	G	18	36805373	y	y	splicing	TPGS2(NM_001271956:exon5:c.382+1G>C;NM_001271955:exon5:c.382+1G>C;NM_001271951:exon5:c.382+1G>C;NM_001271953:exon5:c.382+1G>C;NM_015476:exon5:c.382+1G>C;NM_001271949:exon5:c.277+1G>C;NM_001271954:exon5:c.382+1G>C;NM_001271952:exon6:c.238+1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.382+1G>C;ENST00000590842:exon5:c.382+1G>C;ENST00000591906:exon4:c.251+1G>C;ENST00000587382:exon5:c.345+1G>C;ENST00000334295:exon5:c.382+1G>C;ENST00000593035:exon5:c.277+1G>C;ENST00000589049:exon5:c.382+1G>C;ENST00000591823:exon6:c.451+1G>C;ENST00000585635:exon6:c.544+1G>C;ENST00000590692:exon6:c.470+1G>C)	.	.	0.999951577146044	0.862
18	34385336	C	T	18	36805373	y	y	splicing	TPGS2(NM_001271956:exon5:c.382+1G>A;NM_001271955:exon5:c.382+1G>A;NM_001271951:exon5:c.382+1G>A;NM_001271953:exon5:c.382+1G>A;NM_015476:exon5:c.382+1G>A;NM_001271949:exon5:c.277+1G>A;NM_001271954:exon5:c.382+1G>A;NM_001271952:exon6:c.238+1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.382+1G>A;ENST00000590842:exon5:c.382+1G>A;ENST00000591906:exon4:c.251+1G>A;ENST00000587382:exon5:c.345+1G>A;ENST00000334295:exon5:c.382+1G>A;ENST00000593035:exon5:c.277+1G>A;ENST00000589049:exon5:c.382+1G>A;ENST00000591823:exon6:c.451+1G>A;ENST00000585635:exon6:c.544+1G>A;ENST00000590692:exon6:c.470+1G>A)	.	.	0.99995112653332	0.856
18	34385337	C	A	18	36805374	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.G382T:p.A128S;TPGS2:NM_001271953:exon4:c.G382T:p.A128S;TPGS2:NM_001271955:exon4:c.G382T:p.D128Y;TPGS2:NM_001271956:exon4:c.G382T:p.A128S;TPGS2:NM_001271952:exon5:c.G238T:p.A80S;TPGS2:NM_001271951:exon4:c.G382T:p.A128S;TPGS2:NM_001271949:exon4:c.G277T:p.A93S;TPGS2:NM_015476:exon4:c.G382T:p.A128S;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.G382T:p.A128S;ENSG00000134779:ENST00000589049:exon4:c.G382T:p.A128S;ENSG00000134779:ENST00000587129:exon4:c.G382T:p.A128S;ENSG00000134779:ENST00000593035:exon4:c.G277T:p.A93S;ENSG00000134779:ENST00000334295:exon4:c.G382T:p.A128S;	0.999962040819334	0.978
18	34385337	C	G	18	36805374	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.G382C:p.A128P;TPGS2:NM_001271953:exon4:c.G382C:p.A128P;TPGS2:NM_001271955:exon4:c.G382C:p.D128H;TPGS2:NM_001271956:exon4:c.G382C:p.A128P;TPGS2:NM_001271952:exon5:c.G238C:p.A80P;TPGS2:NM_001271951:exon4:c.G382C:p.A128P;TPGS2:NM_001271949:exon4:c.G277C:p.A93P;TPGS2:NM_015476:exon4:c.G382C:p.A128P;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.G382C:p.A128P;ENSG00000134779:ENST00000589049:exon4:c.G382C:p.A128P;ENSG00000134779:ENST00000587129:exon4:c.G382C:p.A128P;ENSG00000134779:ENST00000593035:exon4:c.G277C:p.A93P;ENSG00000134779:ENST00000334295:exon4:c.G382C:p.A128P;	0.999998503771767	1.0
18	34385337	C	T	18	36805374	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.G382A:p.A128T;TPGS2:NM_001271953:exon4:c.G382A:p.A128T;TPGS2:NM_001271955:exon4:c.G382A:p.D128N;TPGS2:NM_001271956:exon4:c.G382A:p.A128T;TPGS2:NM_001271952:exon5:c.G238A:p.A80T;TPGS2:NM_001271951:exon4:c.G382A:p.A128T;TPGS2:NM_001271949:exon4:c.G277A:p.A93T;TPGS2:NM_015476:exon4:c.G382A:p.A128T;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.G382A:p.A128T;ENSG00000134779:ENST00000589049:exon4:c.G382A:p.A128T;ENSG00000134779:ENST00000587129:exon4:c.G382A:p.A128T;ENSG00000134779:ENST00000593035:exon4:c.G277A:p.A93T;ENSG00000134779:ENST00000334295:exon4:c.G382A:p.A128T;	0.999900829060742	1.0
18	34385338	T	A	18	36805375	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.A381T:p.E127D;TPGS2:NM_001271953:exon4:c.A381T:p.E127D;TPGS2:NM_001271955:exon4:c.A381T:p.E127D;TPGS2:NM_001271956:exon4:c.A381T:p.E127D;TPGS2:NM_001271952:exon5:c.A237T:p.E79D;TPGS2:NM_001271951:exon4:c.A381T:p.E127D;TPGS2:NM_001271949:exon4:c.A276T:p.E92D;TPGS2:NM_015476:exon4:c.A381T:p.E127D;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A381T:p.E127D;ENSG00000134779:ENST00000589049:exon4:c.A381T:p.E127D;ENSG00000134779:ENST00000587129:exon4:c.A381T:p.E127D;ENSG00000134779:ENST00000593035:exon4:c.A276T:p.E92D;ENSG00000134779:ENST00000334295:exon4:c.A381T:p.E127D;	0.999605661478128	0.976
18	34385338	T	C	18	36805375	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon4:c.A381G:p.E127E;TPGS2:NM_001271953:exon4:c.A381G:p.E127E;TPGS2:NM_001271955:exon4:c.A381G:p.E127E;TPGS2:NM_001271956:exon4:c.A381G:p.E127E;TPGS2:NM_001271952:exon5:c.A237G:p.E79E;TPGS2:NM_001271951:exon4:c.A381G:p.E127E;TPGS2:NM_001271949:exon4:c.A276G:p.E92E;TPGS2:NM_015476:exon4:c.A381G:p.E127E;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A381G:p.E127E;ENSG00000134779:ENST00000589049:exon4:c.A381G:p.E127E;ENSG00000134779:ENST00000587129:exon4:c.A381G:p.E127E;ENSG00000134779:ENST00000593035:exon4:c.A276G:p.E92E;ENSG00000134779:ENST00000334295:exon4:c.A381G:p.E127E;	0.991330332361322	0.774
18	34385338	T	G	18	36805375	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.A381C:p.E127D;TPGS2:NM_001271953:exon4:c.A381C:p.E127D;TPGS2:NM_001271955:exon4:c.A381C:p.E127D;TPGS2:NM_001271956:exon4:c.A381C:p.E127D;TPGS2:NM_001271952:exon5:c.A237C:p.E79D;TPGS2:NM_001271951:exon4:c.A381C:p.E127D;TPGS2:NM_001271949:exon4:c.A276C:p.E92D;TPGS2:NM_015476:exon4:c.A381C:p.E127D;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A381C:p.E127D;ENSG00000134779:ENST00000589049:exon4:c.A381C:p.E127D;ENSG00000134779:ENST00000587129:exon4:c.A381C:p.E127D;ENSG00000134779:ENST00000593035:exon4:c.A276C:p.E92D;ENSG00000134779:ENST00000334295:exon4:c.A381C:p.E127D;	0.998451069813681	0.962
18	34385339	T	A	18	36805376	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.A380T:p.E127V;TPGS2:NM_001271953:exon4:c.A380T:p.E127V;TPGS2:NM_001271955:exon4:c.A380T:p.E127V;TPGS2:NM_001271956:exon4:c.A380T:p.E127V;TPGS2:NM_001271952:exon5:c.A236T:p.E79V;TPGS2:NM_001271951:exon4:c.A380T:p.E127V;TPGS2:NM_001271949:exon4:c.A275T:p.E92V;TPGS2:NM_015476:exon4:c.A380T:p.E127V;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A380T:p.E127V;ENSG00000134779:ENST00000589049:exon4:c.A380T:p.E127V;ENSG00000134779:ENST00000587129:exon4:c.A380T:p.E127V;ENSG00000134779:ENST00000593035:exon4:c.A275T:p.E92V;ENSG00000134779:ENST00000334295:exon4:c.A380T:p.E127V;	0.987270475141668	0.686
18	34385339	T	C	18	36805376	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.A380G:p.E127G;TPGS2:NM_001271953:exon4:c.A380G:p.E127G;TPGS2:NM_001271955:exon4:c.A380G:p.E127G;TPGS2:NM_001271956:exon4:c.A380G:p.E127G;TPGS2:NM_001271952:exon5:c.A236G:p.E79G;TPGS2:NM_001271951:exon4:c.A380G:p.E127G;TPGS2:NM_001271949:exon4:c.A275G:p.E92G;TPGS2:NM_015476:exon4:c.A380G:p.E127G;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A380G:p.E127G;ENSG00000134779:ENST00000589049:exon4:c.A380G:p.E127G;ENSG00000134779:ENST00000587129:exon4:c.A380G:p.E127G;ENSG00000134779:ENST00000593035:exon4:c.A275G:p.E92G;ENSG00000134779:ENST00000334295:exon4:c.A380G:p.E127G;	0.264531316357254	0.44
18	34385339	T	G	18	36805376	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.A380C:p.E127A;TPGS2:NM_001271953:exon4:c.A380C:p.E127A;TPGS2:NM_001271955:exon4:c.A380C:p.E127A;TPGS2:NM_001271956:exon4:c.A380C:p.E127A;TPGS2:NM_001271952:exon5:c.A236C:p.E79A;TPGS2:NM_001271951:exon4:c.A380C:p.E127A;TPGS2:NM_001271949:exon4:c.A275C:p.E92A;TPGS2:NM_015476:exon4:c.A380C:p.E127A;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A380C:p.E127A;ENSG00000134779:ENST00000589049:exon4:c.A380C:p.E127A;ENSG00000134779:ENST00000587129:exon4:c.A380C:p.E127A;ENSG00000134779:ENST00000593035:exon4:c.A275C:p.E92A;ENSG00000134779:ENST00000334295:exon4:c.A380C:p.E127A;	0.609660583374847	0.45
18	34385464	C	A	18	36805501	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.G255T:p.E85D;TPGS2:NM_001271953:exon4:c.G255T:p.E85D;TPGS2:NM_001271955:exon4:c.G255T:p.E85D;TPGS2:NM_001271956:exon4:c.G255T:p.E85D;TPGS2:NM_001271952:exon5:c.G111T:p.E37D;TPGS2:NM_001271951:exon4:c.G255T:p.E85D;TPGS2:NM_015476:exon4:c.G255T:p.E85D;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.G255T:p.E85D;ENSG00000134779:ENST00000589049:exon4:c.G255T:p.E85D;ENSG00000134779:ENST00000587129:exon4:c.G255T:p.E85D;ENSG00000134779:ENST00000334295:exon4:c.G255T:p.E85D;	1.92256753415104E-5	0.0
18	34385464	C	G	18	36805501	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.G255C:p.E85D;TPGS2:NM_001271953:exon4:c.G255C:p.E85D;TPGS2:NM_001271955:exon4:c.G255C:p.E85D;TPGS2:NM_001271956:exon4:c.G255C:p.E85D;TPGS2:NM_001271952:exon5:c.G111C:p.E37D;TPGS2:NM_001271951:exon4:c.G255C:p.E85D;TPGS2:NM_015476:exon4:c.G255C:p.E85D;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.G255C:p.E85D;ENSG00000134779:ENST00000589049:exon4:c.G255C:p.E85D;ENSG00000134779:ENST00000587129:exon4:c.G255C:p.E85D;ENSG00000134779:ENST00000334295:exon4:c.G255C:p.E85D;	1.10120009497989E-5	0.0
18	34385464	C	T	18	36805501	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon4:c.G255A:p.E85E;TPGS2:NM_001271953:exon4:c.G255A:p.E85E;TPGS2:NM_001271955:exon4:c.G255A:p.E85E;TPGS2:NM_001271956:exon4:c.G255A:p.E85E;TPGS2:NM_001271952:exon5:c.G111A:p.E37E;TPGS2:NM_001271951:exon4:c.G255A:p.E85E;TPGS2:NM_015476:exon4:c.G255A:p.E85E;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.G255A:p.E85E;ENSG00000134779:ENST00000589049:exon4:c.G255A:p.E85E;ENSG00000134779:ENST00000587129:exon4:c.G255A:p.E85E;ENSG00000134779:ENST00000334295:exon4:c.G255A:p.E85E;	2.02907135486479E-5	0.0
18	34385465	T	A	18	36805502	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.A254T:p.E85V;TPGS2:NM_001271953:exon4:c.A254T:p.E85V;TPGS2:NM_001271955:exon4:c.A254T:p.E85V;TPGS2:NM_001271956:exon4:c.A254T:p.E85V;TPGS2:NM_001271952:exon5:c.A110T:p.E37V;TPGS2:NM_001271951:exon4:c.A254T:p.E85V;TPGS2:NM_015476:exon4:c.A254T:p.E85V;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A254T:p.E85V;ENSG00000134779:ENST00000589049:exon4:c.A254T:p.E85V;ENSG00000134779:ENST00000587129:exon4:c.A254T:p.E85V;ENSG00000134779:ENST00000334295:exon4:c.A254T:p.E85V;	0.182435788770985	0.188
18	34385465	T	C	18	36805502	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.A254G:p.E85G;TPGS2:NM_001271953:exon4:c.A254G:p.E85G;TPGS2:NM_001271955:exon4:c.A254G:p.E85G;TPGS2:NM_001271956:exon4:c.A254G:p.E85G;TPGS2:NM_001271952:exon5:c.A110G:p.E37G;TPGS2:NM_001271951:exon4:c.A254G:p.E85G;TPGS2:NM_015476:exon4:c.A254G:p.E85G;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A254G:p.E85G;ENSG00000134779:ENST00000589049:exon4:c.A254G:p.E85G;ENSG00000134779:ENST00000587129:exon4:c.A254G:p.E85G;ENSG00000134779:ENST00000334295:exon4:c.A254G:p.E85G;	3.37254353571021E-4	0.024
18	34385465	T	G	18	36805502	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon4:c.A254C:p.E85A;TPGS2:NM_001271953:exon4:c.A254C:p.E85A;TPGS2:NM_001271955:exon4:c.A254C:p.E85A;TPGS2:NM_001271956:exon4:c.A254C:p.E85A;TPGS2:NM_001271952:exon5:c.A110C:p.E37A;TPGS2:NM_001271951:exon4:c.A254C:p.E85A;TPGS2:NM_015476:exon4:c.A254C:p.E85A;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon4:c.A254C:p.E85A;ENSG00000134779:ENST00000589049:exon4:c.A254C:p.E85A;ENSG00000134779:ENST00000587129:exon4:c.A254C:p.E85A;ENSG00000134779:ENST00000334295:exon4:c.A254C:p.E85A;	0.119255858994658	0.234
18	34385466	C	A	18	36805503	y	y	splicing	TPGS2(NM_001271956:exon5:c.254-1G>T;NM_001271955:exon5:c.254-1G>T;NM_001271951:exon5:c.254-1G>T;NM_001271953:exon5:c.254-1G>T;NM_015476:exon5:c.254-1G>T;NM_001271954:exon5:c.254-1G>T;NM_001271952:exon6:c.110-1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.254-1G>T;ENST00000590842:exon5:c.254-1G>T;ENST00000591906:exon4:c.123-1G>T;ENST00000587382:exon5:c.217-1G>T;ENST00000334295:exon5:c.254-1G>T;ENST00000589049:exon5:c.254-1G>T;ENST00000591823:exon6:c.323-1G>T;ENST00000585635:exon6:c.416-1G>T;ENST00000590692:exon6:c.342-1G>T)	.	.	0.99995205456907	0.958
18	34385466	C	G	18	36805503	y	y	splicing	TPGS2(NM_001271956:exon5:c.254-1G>C;NM_001271955:exon5:c.254-1G>C;NM_001271951:exon5:c.254-1G>C;NM_001271953:exon5:c.254-1G>C;NM_015476:exon5:c.254-1G>C;NM_001271954:exon5:c.254-1G>C;NM_001271952:exon6:c.110-1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.254-1G>C;ENST00000590842:exon5:c.254-1G>C;ENST00000591906:exon4:c.123-1G>C;ENST00000587382:exon5:c.217-1G>C;ENST00000334295:exon5:c.254-1G>C;ENST00000589049:exon5:c.254-1G>C;ENST00000591823:exon6:c.323-1G>C;ENST00000585635:exon6:c.416-1G>C;ENST00000590692:exon6:c.342-1G>C)	.	.	0.99995205456907	0.96
18	34385466	C	T	18	36805503	y	y	splicing	TPGS2(NM_001271956:exon5:c.254-1G>A;NM_001271955:exon5:c.254-1G>A;NM_001271951:exon5:c.254-1G>A;NM_001271953:exon5:c.254-1G>A;NM_015476:exon5:c.254-1G>A;NM_001271954:exon5:c.254-1G>A;NM_001271952:exon6:c.110-1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.254-1G>A;ENST00000590842:exon5:c.254-1G>A;ENST00000591906:exon4:c.123-1G>A;ENST00000587382:exon5:c.217-1G>A;ENST00000334295:exon5:c.254-1G>A;ENST00000589049:exon5:c.254-1G>A;ENST00000591823:exon6:c.323-1G>A;ENST00000585635:exon6:c.416-1G>A;ENST00000590692:exon6:c.342-1G>A)	.	.	0.99995205456907	0.96
18	34385467	T	A	18	36805504	y	y	splicing	TPGS2(NM_001271956:exon5:c.254-2A>T;NM_001271955:exon5:c.254-2A>T;NM_001271951:exon5:c.254-2A>T;NM_001271953:exon5:c.254-2A>T;NM_015476:exon5:c.254-2A>T;NM_001271954:exon5:c.254-2A>T;NM_001271952:exon6:c.110-2A>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.254-2A>T;ENST00000590842:exon5:c.254-2A>T;ENST00000591906:exon4:c.123-2A>T;ENST00000587382:exon5:c.217-2A>T;ENST00000334295:exon5:c.254-2A>T;ENST00000589049:exon5:c.254-2A>T;ENST00000591823:exon6:c.323-2A>T;ENST00000585635:exon6:c.416-2A>T;ENST00000590692:exon6:c.342-2A>T)	.	.	0.999975839290682	0.884
18	34385467	T	C	18	36805504	y	y	splicing	TPGS2(NM_001271956:exon5:c.254-2A>G;NM_001271955:exon5:c.254-2A>G;NM_001271951:exon5:c.254-2A>G;NM_001271953:exon5:c.254-2A>G;NM_015476:exon5:c.254-2A>G;NM_001271954:exon5:c.254-2A>G;NM_001271952:exon6:c.110-2A>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.254-2A>G;ENST00000590842:exon5:c.254-2A>G;ENST00000591906:exon4:c.123-2A>G;ENST00000587382:exon5:c.217-2A>G;ENST00000334295:exon5:c.254-2A>G;ENST00000589049:exon5:c.254-2A>G;ENST00000591823:exon6:c.323-2A>G;ENST00000585635:exon6:c.416-2A>G;ENST00000590692:exon6:c.342-2A>G)	.	.	0.999975839290682	0.862
18	34385467	T	G	18	36805504	y	y	splicing	TPGS2(NM_001271956:exon5:c.254-2A>C;NM_001271955:exon5:c.254-2A>C;NM_001271951:exon5:c.254-2A>C;NM_001271953:exon5:c.254-2A>C;NM_015476:exon5:c.254-2A>C;NM_001271954:exon5:c.254-2A>C;NM_001271952:exon6:c.110-2A>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon5:c.254-2A>C;ENST00000590842:exon5:c.254-2A>C;ENST00000591906:exon4:c.123-2A>C;ENST00000587382:exon5:c.217-2A>C;ENST00000334295:exon5:c.254-2A>C;ENST00000589049:exon5:c.254-2A>C;ENST00000591823:exon6:c.323-2A>C;ENST00000585635:exon6:c.416-2A>C;ENST00000590692:exon6:c.342-2A>C)	.	.	0.999975839290682	0.862
18	34385468	A	C	18	36805505	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.987793000569418	0.628
18	34385468	A	G	18	36805505	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.57632172348999E-5	0.002
18	34385468	A	T	18	36805505	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0849029855657459	0.392
18	34385469	G	A	18	36805506	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.68239258333918E-5	0.01
18	34385469	G	C	18	36805506	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.26610987261055E-5	0.036
18	34385469	G	T	18	36805506	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.4784156773507E-5	0.002
18	34385470	G	A	18	36805507	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.13168337954728E-5	0.0
18	34385470	G	C	18	36805507	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00340389206002528	0.112
18	34385470	G	T	18	36805507	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00135633594079606	0.054
18	34385471	G	A	18	36805508	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.86700155248569E-4	0.03
18	34385471	G	C	18	36805508	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.380376081589928	0.5
18	34385471	G	T	18	36805508	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.631346186237611	0.494
18	34385472	G	A	18	36805509	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.03486454270256E-5	0.0
18	34385472	G	C	18	36805509	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.86128619925912E-4	0.098
18	34385472	G	T	18	36805509	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0184841545411959	0.198
18	34385473	A	C	18	36805510	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00566197938332672	0.198
18	34385473	A	G	18	36805510	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.31864411877308E-5	0.012
18	34385473	A	T	18	36805510	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0132424334332009	0.172
18	34385474	A	C	18	36805511	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0697227583083705	0.444
18	34385474	A	G	18	36805511	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00291081924000391	0.104
18	34385474	A	T	18	36805511	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0776575837738314	0.478
18	34385475	C	A	18	36805512	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.37549692584271E-5	0.0
18	34385475	C	G	18	36805512	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.71182572594013E-5	0.0
18	34385475	C	T	18	36805512	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.95717928266229E-4	0.064
18	34385476	A	C	18	36805513	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999946459264129	0.966
18	34385476	A	G	18	36805513	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00298830036136514	0.144
18	34385476	A	T	18	36805513	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999900739761535	0.964
18	34385477	T	A	18	36805514	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.83140420492695E-4	0.024
18	34385477	T	C	18	36805514	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00239716795381838	0.088
18	34385477	T	G	18	36805514	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.11074026327002E-4	0.004
18	34386058	A	C	18	36806095	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590337:exon4:c.T255G:p.V85V;	1.86764315709017E-5	0.0
18	34386058	A	G	18	36806095	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590337:exon4:c.T255C:p.V85V;	1.86764315709017E-5	0.0
18	34386058	A	T	18	36806095	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590337:exon4:c.T255A:p.V85V;	1.86764315709017E-5	0.0
18	34386059	A	C	18	36806096	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590337:exon4:c.T254G:p.V85G;	2.28931909661929E-4	0.028
18	34386059	A	G	18	36806096	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590337:exon4:c.T254C:p.V85A;	2.28931909661929E-4	0.028
18	34386059	A	T	18	36806096	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590337:exon4:c.T254A:p.V85D;	4.12689098276539E-4	0.026
18	34386060	C	A	18	36806097	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590337:exon5:c.254-1G>T)	.	.	1.11657407965104E-4	0.008
18	34386060	C	G	18	36806097	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590337:exon5:c.254-1G>C)	.	.	1.11657407965104E-4	0.006
18	34386060	C	T	18	36806097	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590337:exon5:c.254-1G>A)	.	.	1.11657407965104E-4	0.026
18	34386061	T	A	18	36806098	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590337:exon5:c.254-2A>T)	.	.	3.49521429640616E-5	0.0
18	34386061	T	C	18	36806098	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590337:exon5:c.254-2A>G)	.	.	3.49521429640616E-5	0.0
18	34386061	T	G	18	36806098	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590337:exon5:c.254-2A>C)	.	.	3.49521429640616E-5	0.0
18	34386062	G	A	18	36806099	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.04349982970396E-5	0.0
18	34386062	G	C	18	36806099	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.08692400722682E-5	0.0
18	34386062	G	T	18	36806099	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.08692400722682E-5	0.002
18	34386063	G	A	18	36806100	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.51383879749987E-5	0.0
18	34386063	G	C	18	36806100	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.51383879749987E-5	0.0
18	34386063	G	T	18	36806100	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.51383879749987E-5	0.0
18	34386064	A	C	18	36806101	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.15267776820636E-5	0.0
18	34386064	A	G	18	36806101	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.15267776820636E-5	0.0
18	34386064	A	T	18	36806101	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.15267776820636E-5	0.0
18	34386065	A	C	18	36806102	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.50312366030491E-5	0.0
18	34386065	A	G	18	36806102	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.50312366030491E-5	0.0
18	34386065	A	T	18	36806102	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.50312366030491E-5	0.0
18	34386066	T	A	18	36806103	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.45170072801036E-5	0.04
18	34386066	T	C	18	36806103	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.45170072801036E-5	0.04
18	34386066	T	G	18	36806103	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.45170072801036E-5	0.04
18	34386067	G	A	18	36806104	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.68952365742707E-5	0.002
18	34386067	G	C	18	36806104	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.68952365742707E-5	0.002
18	34386067	G	T	18	36806104	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.68952365742707E-5	0.004
18	34386068	G	A	18	36806105	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.36187558740154E-5	0.004
18	34386068	G	C	18	36806105	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.04243866858565E-5	0.0
18	34386068	G	T	18	36806105	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.36187558740154E-5	0.0
18	34386069	T	A	18	36806106	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.25524929795369E-5	0.0
18	34386069	T	C	18	36806106	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.46004206284423E-5	0.0
18	34386069	T	G	18	36806106	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.46004206284423E-5	0.0
18	34386070	T	A	18	36806107	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.39457982047225E-5	0.0
18	34386070	T	C	18	36806107	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.27663100932972E-5	0.0
18	34386070	T	G	18	36806107	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.27663100932972E-5	0.0
18	34386071	T	A	18	36806108	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.90028566392549E-5	0.004
18	34386071	T	C	18	36806108	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.90028566392549E-5	0.004
18	34386071	T	G	18	36806108	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.90028566392549E-5	0.004
18	34387802	T	A	18	36807839	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.15941453541388E-5	0.0
18	34387802	T	C	18	36807839	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.585416616557E-5	0.0
18	34387802	T	G	18	36807839	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.30477579161392E-5	0.0
18	34387803	G	A	18	36807840	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.88171186046866E-4	0.012
18	34387803	G	C	18	36807840	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.63184213541631E-5	0.006
18	34387803	G	T	18	36807840	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.55780670402395E-5	0.004
18	34387804	A	C	18	36807841	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0411134246121815	0.246
18	34387804	A	G	18	36807841	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0883947201973352	0.208
18	34387804	A	T	18	36807841	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.413958559833293	0.288
18	34387805	C	A	18	36807842	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999846053069607	0.93
18	34387805	C	G	18	36807842	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999952006189755	0.934
18	34387805	C	T	18	36807842	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.99980191325706	0.962
18	34387806	T	A	18	36807843	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.9733764301395	0.728
18	34387806	T	C	18	36807843	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.921145302397872	0.712
18	34387806	T	G	18	36807843	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.804085931076186	0.48
18	34387807	C	A	18	36807844	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0701793674054585	0.342
18	34387807	C	G	18	36807844	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.6889047515877	0.482
18	34387807	C	T	18	36807844	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.48825058396372E-5	0.0
18	34387808	A	C	18	36807845	y	y	splicing	TPGS2(NM_001271956:exon4:c.253+2T>G;NM_001271955:exon4:c.253+2T>G;NM_001271951:exon4:c.253+2T>G;NM_001271953:exon4:c.253+2T>G;NM_015476:exon4:c.253+2T>G;NM_001271949:exon4:c.253+2T>G;NM_001271950:exon4:c.253+2T>G;NM_001271954:exon4:c.253+2T>G;NM_001271952:exon5:c.109+2T>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.253+2T>G;ENST00000590842:exon4:c.253+2T>G;ENST00000591906:exon3:c.122+2T>G;ENST00000587382:exon4:c.216+2T>G;ENST00000334295:exon4:c.253+2T>G;ENST00000383056:exon4:c.253+2T>G;ENST00000593035:exon4:c.253+2T>G;ENST00000589049:exon4:c.253+2T>G;ENST00000591823:exon5:c.322+2T>G;ENST00000585635:exon5:c.415+2T>G;ENST00000590692:exon5:c.341+2T>G;ENST00000590337:exon4:c.253+2T>G)	.	.	0.999989917668626	0.924
18	34387808	A	G	18	36807845	y	y	splicing	TPGS2(NM_001271956:exon4:c.253+2T>C;NM_001271955:exon4:c.253+2T>C;NM_001271951:exon4:c.253+2T>C;NM_001271953:exon4:c.253+2T>C;NM_015476:exon4:c.253+2T>C;NM_001271949:exon4:c.253+2T>C;NM_001271950:exon4:c.253+2T>C;NM_001271954:exon4:c.253+2T>C;NM_001271952:exon5:c.109+2T>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.253+2T>C;ENST00000590842:exon4:c.253+2T>C;ENST00000591906:exon3:c.122+2T>C;ENST00000587382:exon4:c.216+2T>C;ENST00000334295:exon4:c.253+2T>C;ENST00000383056:exon4:c.253+2T>C;ENST00000593035:exon4:c.253+2T>C;ENST00000589049:exon4:c.253+2T>C;ENST00000591823:exon5:c.322+2T>C;ENST00000585635:exon5:c.415+2T>C;ENST00000590692:exon5:c.341+2T>C;ENST00000590337:exon4:c.253+2T>C)	.	.	0.999927254940125	0.86
18	34387808	A	T	18	36807845	y	y	splicing	TPGS2(NM_001271956:exon4:c.253+2T>A;NM_001271955:exon4:c.253+2T>A;NM_001271951:exon4:c.253+2T>A;NM_001271953:exon4:c.253+2T>A;NM_015476:exon4:c.253+2T>A;NM_001271949:exon4:c.253+2T>A;NM_001271950:exon4:c.253+2T>A;NM_001271954:exon4:c.253+2T>A;NM_001271952:exon5:c.109+2T>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.253+2T>A;ENST00000590842:exon4:c.253+2T>A;ENST00000591906:exon3:c.122+2T>A;ENST00000587382:exon4:c.216+2T>A;ENST00000334295:exon4:c.253+2T>A;ENST00000383056:exon4:c.253+2T>A;ENST00000593035:exon4:c.253+2T>A;ENST00000589049:exon4:c.253+2T>A;ENST00000591823:exon5:c.322+2T>A;ENST00000585635:exon5:c.415+2T>A;ENST00000590692:exon5:c.341+2T>A;ENST00000590337:exon4:c.253+2T>A)	.	.	0.999989917668626	0.924
18	34387809	C	A	18	36807846	y	y	splicing	TPGS2(NM_001271956:exon4:c.253+1G>T;NM_001271955:exon4:c.253+1G>T;NM_001271951:exon4:c.253+1G>T;NM_001271953:exon4:c.253+1G>T;NM_015476:exon4:c.253+1G>T;NM_001271949:exon4:c.253+1G>T;NM_001271950:exon4:c.253+1G>T;NM_001271954:exon4:c.253+1G>T;NM_001271952:exon5:c.109+1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.253+1G>T;ENST00000590842:exon4:c.253+1G>T;ENST00000591906:exon3:c.122+1G>T;ENST00000587382:exon4:c.216+1G>T;ENST00000334295:exon4:c.253+1G>T;ENST00000383056:exon4:c.253+1G>T;ENST00000593035:exon4:c.253+1G>T;ENST00000589049:exon4:c.253+1G>T;ENST00000591823:exon5:c.322+1G>T;ENST00000585635:exon5:c.415+1G>T;ENST00000590692:exon5:c.341+1G>T;ENST00000590337:exon4:c.253+1G>T)	.	.	0.999986675681007	0.922
18	34387809	C	G	18	36807846	y	y	splicing	TPGS2(NM_001271956:exon4:c.253+1G>C;NM_001271955:exon4:c.253+1G>C;NM_001271951:exon4:c.253+1G>C;NM_001271953:exon4:c.253+1G>C;NM_015476:exon4:c.253+1G>C;NM_001271949:exon4:c.253+1G>C;NM_001271950:exon4:c.253+1G>C;NM_001271954:exon4:c.253+1G>C;NM_001271952:exon5:c.109+1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.253+1G>C;ENST00000590842:exon4:c.253+1G>C;ENST00000591906:exon3:c.122+1G>C;ENST00000587382:exon4:c.216+1G>C;ENST00000334295:exon4:c.253+1G>C;ENST00000383056:exon4:c.253+1G>C;ENST00000593035:exon4:c.253+1G>C;ENST00000589049:exon4:c.253+1G>C;ENST00000591823:exon5:c.322+1G>C;ENST00000585635:exon5:c.415+1G>C;ENST00000590692:exon5:c.341+1G>C;ENST00000590337:exon4:c.253+1G>C)	.	.	0.999986675681007	0.934
18	34387809	C	T	18	36807846	y	y	splicing	TPGS2(NM_001271956:exon4:c.253+1G>A;NM_001271955:exon4:c.253+1G>A;NM_001271951:exon4:c.253+1G>A;NM_001271953:exon4:c.253+1G>A;NM_015476:exon4:c.253+1G>A;NM_001271949:exon4:c.253+1G>A;NM_001271950:exon4:c.253+1G>A;NM_001271954:exon4:c.253+1G>A;NM_001271952:exon5:c.109+1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.253+1G>A;ENST00000590842:exon4:c.253+1G>A;ENST00000591906:exon3:c.122+1G>A;ENST00000587382:exon4:c.216+1G>A;ENST00000334295:exon4:c.253+1G>A;ENST00000383056:exon4:c.253+1G>A;ENST00000593035:exon4:c.253+1G>A;ENST00000589049:exon4:c.253+1G>A;ENST00000591823:exon5:c.322+1G>A;ENST00000585635:exon5:c.415+1G>A;ENST00000590692:exon5:c.341+1G>A;ENST00000590337:exon4:c.253+1G>A)	.	.	0.999986675681007	0.932
18	34387810	C	A	18	36807847	y	y	exonic	TPGS2	stopgain SNV	TPGS2:NM_001271954:exon3:c.G253T:p.E85X;TPGS2:NM_001271953:exon3:c.G253T:p.E85X;TPGS2:NM_001271955:exon3:c.G253T:p.E85X;TPGS2:NM_001271956:exon3:c.G253T:p.E85X;TPGS2:NM_001271952:exon4:c.G109T:p.E37X;TPGS2:NM_001271951:exon3:c.G253T:p.E85X;TPGS2:NM_015476:exon3:c.G253T:p.E85X;	exonic	ENSG00000134779	stopgain SNV	ENSG00000134779:ENST00000590842:exon3:c.G253T:p.E85X;ENSG00000134779:ENST00000589049:exon3:c.G253T:p.E85X;ENSG00000134779:ENST00000587129:exon3:c.G253T:p.E85X;ENSG00000134779:ENST00000334295:exon3:c.G253T:p.E85X;	0.999969466574146	0.94
18	34387810	C	G	18	36807847	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.G253C:p.E85Q;TPGS2:NM_001271953:exon3:c.G253C:p.E85Q;TPGS2:NM_001271955:exon3:c.G253C:p.E85Q;TPGS2:NM_001271950:exon3:c.G253C:p.A85P;TPGS2:NM_001271956:exon3:c.G253C:p.E85Q;TPGS2:NM_001271952:exon4:c.G109C:p.E37Q;TPGS2:NM_001271951:exon3:c.G253C:p.E85Q;TPGS2:NM_001271949:exon3:c.G253C:p.D85H;TPGS2:NM_015476:exon3:c.G253C:p.E85Q;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.G253C:p.E85Q;ENSG00000134779:ENST00000589049:exon3:c.G253C:p.E85Q;ENSG00000134779:ENST00000383056:exon3:c.G253C:p.A85P;ENSG00000134779:ENST00000587129:exon3:c.G253C:p.E85Q;ENSG00000134779:ENST00000593035:exon3:c.G253C:p.D85H;ENSG00000134779:ENST00000590337:exon3:c.G253C:p.V85L;ENSG00000134779:ENST00000334295:exon3:c.G253C:p.E85Q;	0.999918060820707	0.958
18	34387810	C	T	18	36807847	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.G253A:p.E85K;TPGS2:NM_001271953:exon3:c.G253A:p.E85K;TPGS2:NM_001271955:exon3:c.G253A:p.E85K;TPGS2:NM_001271950:exon3:c.G253A:p.A85T;TPGS2:NM_001271956:exon3:c.G253A:p.E85K;TPGS2:NM_001271952:exon4:c.G109A:p.E37K;TPGS2:NM_001271951:exon3:c.G253A:p.E85K;TPGS2:NM_001271949:exon3:c.G253A:p.D85N;TPGS2:NM_015476:exon3:c.G253A:p.E85K;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.G253A:p.E85K;ENSG00000134779:ENST00000589049:exon3:c.G253A:p.E85K;ENSG00000134779:ENST00000383056:exon3:c.G253A:p.A85T;ENSG00000134779:ENST00000587129:exon3:c.G253A:p.E85K;ENSG00000134779:ENST00000593035:exon3:c.G253A:p.D85N;ENSG00000134779:ENST00000590337:exon3:c.G253A:p.V85I;ENSG00000134779:ENST00000334295:exon3:c.G253A:p.E85K;	0.99935728853065	0.882
18	34387811	A	C	18	36807848	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.T252G:p.D84E;TPGS2:NM_001271953:exon3:c.T252G:p.D84E;TPGS2:NM_001271955:exon3:c.T252G:p.D84E;TPGS2:NM_001271950:exon3:c.T252G:p.D84E;TPGS2:NM_001271956:exon3:c.T252G:p.D84E;TPGS2:NM_001271952:exon4:c.T108G:p.D36E;TPGS2:NM_001271951:exon3:c.T252G:p.D84E;TPGS2:NM_001271949:exon3:c.T252G:p.D84E;TPGS2:NM_015476:exon3:c.T252G:p.D84E;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.T252G:p.D84E;ENSG00000134779:ENST00000589049:exon3:c.T252G:p.D84E;ENSG00000134779:ENST00000383056:exon3:c.T252G:p.D84E;ENSG00000134779:ENST00000587129:exon3:c.T252G:p.D84E;ENSG00000134779:ENST00000593035:exon3:c.T252G:p.D84E;ENSG00000134779:ENST00000590337:exon3:c.T252G:p.D84E;ENSG00000134779:ENST00000334295:exon3:c.T252G:p.D84E;	0.00132186731723958	0.034
18	34387811	A	G	18	36807848	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon3:c.T252C:p.D84D;TPGS2:NM_001271953:exon3:c.T252C:p.D84D;TPGS2:NM_001271955:exon3:c.T252C:p.D84D;TPGS2:NM_001271950:exon3:c.T252C:p.D84D;TPGS2:NM_001271956:exon3:c.T252C:p.D84D;TPGS2:NM_001271952:exon4:c.T108C:p.D36D;TPGS2:NM_001271951:exon3:c.T252C:p.D84D;TPGS2:NM_001271949:exon3:c.T252C:p.D84D;TPGS2:NM_015476:exon3:c.T252C:p.D84D;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.T252C:p.D84D;ENSG00000134779:ENST00000589049:exon3:c.T252C:p.D84D;ENSG00000134779:ENST00000383056:exon3:c.T252C:p.D84D;ENSG00000134779:ENST00000587129:exon3:c.T252C:p.D84D;ENSG00000134779:ENST00000593035:exon3:c.T252C:p.D84D;ENSG00000134779:ENST00000590337:exon3:c.T252C:p.D84D;ENSG00000134779:ENST00000334295:exon3:c.T252C:p.D84D;	1.087964275549E-4	0.018
18	34387811	A	T	18	36807848	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.T252A:p.D84E;TPGS2:NM_001271953:exon3:c.T252A:p.D84E;TPGS2:NM_001271955:exon3:c.T252A:p.D84E;TPGS2:NM_001271950:exon3:c.T252A:p.D84E;TPGS2:NM_001271956:exon3:c.T252A:p.D84E;TPGS2:NM_001271952:exon4:c.T108A:p.D36E;TPGS2:NM_001271951:exon3:c.T252A:p.D84E;TPGS2:NM_001271949:exon3:c.T252A:p.D84E;TPGS2:NM_015476:exon3:c.T252A:p.D84E;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.T252A:p.D84E;ENSG00000134779:ENST00000589049:exon3:c.T252A:p.D84E;ENSG00000134779:ENST00000383056:exon3:c.T252A:p.D84E;ENSG00000134779:ENST00000587129:exon3:c.T252A:p.D84E;ENSG00000134779:ENST00000593035:exon3:c.T252A:p.D84E;ENSG00000134779:ENST00000590337:exon3:c.T252A:p.D84E;ENSG00000134779:ENST00000334295:exon3:c.T252A:p.D84E;	4.69274054710174E-5	0.074
18	34387812	T	A	18	36807849	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.A251T:p.D84V;TPGS2:NM_001271953:exon3:c.A251T:p.D84V;TPGS2:NM_001271955:exon3:c.A251T:p.D84V;TPGS2:NM_001271950:exon3:c.A251T:p.D84V;TPGS2:NM_001271956:exon3:c.A251T:p.D84V;TPGS2:NM_001271952:exon4:c.A107T:p.D36V;TPGS2:NM_001271951:exon3:c.A251T:p.D84V;TPGS2:NM_001271949:exon3:c.A251T:p.D84V;TPGS2:NM_015476:exon3:c.A251T:p.D84V;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.A251T:p.D84V;ENSG00000134779:ENST00000589049:exon3:c.A251T:p.D84V;ENSG00000134779:ENST00000383056:exon3:c.A251T:p.D84V;ENSG00000134779:ENST00000587129:exon3:c.A251T:p.D84V;ENSG00000134779:ENST00000593035:exon3:c.A251T:p.D84V;ENSG00000134779:ENST00000590337:exon3:c.A251T:p.D84V;ENSG00000134779:ENST00000334295:exon3:c.A251T:p.D84V;	0.96905463885208	0.648
18	34387812	T	C	18	36807849	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.A251G:p.D84G;TPGS2:NM_001271953:exon3:c.A251G:p.D84G;TPGS2:NM_001271955:exon3:c.A251G:p.D84G;TPGS2:NM_001271950:exon3:c.A251G:p.D84G;TPGS2:NM_001271956:exon3:c.A251G:p.D84G;TPGS2:NM_001271952:exon4:c.A107G:p.D36G;TPGS2:NM_001271951:exon3:c.A251G:p.D84G;TPGS2:NM_001271949:exon3:c.A251G:p.D84G;TPGS2:NM_015476:exon3:c.A251G:p.D84G;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.A251G:p.D84G;ENSG00000134779:ENST00000589049:exon3:c.A251G:p.D84G;ENSG00000134779:ENST00000383056:exon3:c.A251G:p.D84G;ENSG00000134779:ENST00000587129:exon3:c.A251G:p.D84G;ENSG00000134779:ENST00000593035:exon3:c.A251G:p.D84G;ENSG00000134779:ENST00000590337:exon3:c.A251G:p.D84G;ENSG00000134779:ENST00000334295:exon3:c.A251G:p.D84G;	0.54494450155863	0.496
18	34387812	T	G	18	36807849	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.A251C:p.D84A;TPGS2:NM_001271953:exon3:c.A251C:p.D84A;TPGS2:NM_001271955:exon3:c.A251C:p.D84A;TPGS2:NM_001271950:exon3:c.A251C:p.D84A;TPGS2:NM_001271956:exon3:c.A251C:p.D84A;TPGS2:NM_001271952:exon4:c.A107C:p.D36A;TPGS2:NM_001271951:exon3:c.A251C:p.D84A;TPGS2:NM_001271949:exon3:c.A251C:p.D84A;TPGS2:NM_015476:exon3:c.A251C:p.D84A;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.A251C:p.D84A;ENSG00000134779:ENST00000589049:exon3:c.A251C:p.D84A;ENSG00000134779:ENST00000383056:exon3:c.A251C:p.D84A;ENSG00000134779:ENST00000587129:exon3:c.A251C:p.D84A;ENSG00000134779:ENST00000593035:exon3:c.A251C:p.D84A;ENSG00000134779:ENST00000590337:exon3:c.A251C:p.D84A;ENSG00000134779:ENST00000334295:exon3:c.A251C:p.D84A;	0.81878203752846	0.59
18	34387896	T	A	18	36807933	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.A167T:p.K56M;TPGS2:NM_001271953:exon3:c.A167T:p.K56M;TPGS2:NM_001271955:exon3:c.A167T:p.K56M;TPGS2:NM_001271950:exon3:c.A167T:p.K56M;TPGS2:NM_001271956:exon3:c.A167T:p.K56M;TPGS2:NM_001271952:exon4:c.A23T:p.K8M;TPGS2:NM_001271951:exon3:c.A167T:p.K56M;TPGS2:NM_001271949:exon3:c.A167T:p.K56M;TPGS2:NM_015476:exon3:c.A167T:p.K56M;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.A167T:p.K56M;ENSG00000134779:ENST00000589049:exon3:c.A167T:p.K56M;ENSG00000134779:ENST00000383056:exon3:c.A167T:p.K56M;ENSG00000134779:ENST00000587129:exon3:c.A167T:p.K56M;ENSG00000134779:ENST00000593035:exon3:c.A167T:p.K56M;ENSG00000134779:ENST00000590337:exon3:c.A167T:p.K56M;ENSG00000134779:ENST00000334295:exon3:c.A167T:p.K56M;	0.917925467533395	0.784
18	34387896	T	C	18	36807933	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.A167G:p.K56R;TPGS2:NM_001271953:exon3:c.A167G:p.K56R;TPGS2:NM_001271955:exon3:c.A167G:p.K56R;TPGS2:NM_001271950:exon3:c.A167G:p.K56R;TPGS2:NM_001271956:exon3:c.A167G:p.K56R;TPGS2:NM_001271952:exon4:c.A23G:p.K8R;TPGS2:NM_001271951:exon3:c.A167G:p.K56R;TPGS2:NM_001271949:exon3:c.A167G:p.K56R;TPGS2:NM_015476:exon3:c.A167G:p.K56R;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.A167G:p.K56R;ENSG00000134779:ENST00000589049:exon3:c.A167G:p.K56R;ENSG00000134779:ENST00000383056:exon3:c.A167G:p.K56R;ENSG00000134779:ENST00000587129:exon3:c.A167G:p.K56R;ENSG00000134779:ENST00000593035:exon3:c.A167G:p.K56R;ENSG00000134779:ENST00000590337:exon3:c.A167G:p.K56R;ENSG00000134779:ENST00000334295:exon3:c.A167G:p.K56R;	0.347968756212965	0.37
18	34387896	T	G	18	36807933	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.A167C:p.K56T;TPGS2:NM_001271953:exon3:c.A167C:p.K56T;TPGS2:NM_001271955:exon3:c.A167C:p.K56T;TPGS2:NM_001271950:exon3:c.A167C:p.K56T;TPGS2:NM_001271956:exon3:c.A167C:p.K56T;TPGS2:NM_001271952:exon4:c.A23C:p.K8T;TPGS2:NM_001271951:exon3:c.A167C:p.K56T;TPGS2:NM_001271949:exon3:c.A167C:p.K56T;TPGS2:NM_015476:exon3:c.A167C:p.K56T;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.A167C:p.K56T;ENSG00000134779:ENST00000589049:exon3:c.A167C:p.K56T;ENSG00000134779:ENST00000383056:exon3:c.A167C:p.K56T;ENSG00000134779:ENST00000587129:exon3:c.A167C:p.K56T;ENSG00000134779:ENST00000593035:exon3:c.A167C:p.K56T;ENSG00000134779:ENST00000590337:exon3:c.A167C:p.K56T;ENSG00000134779:ENST00000334295:exon3:c.A167C:p.K56T;	0.942726069582456	0.89
18	34387897	T	A	18	36807934	y	y	exonic	TPGS2	stopgain SNV	TPGS2:NM_001271954:exon3:c.A166T:p.K56X;TPGS2:NM_001271953:exon3:c.A166T:p.K56X;TPGS2:NM_001271955:exon3:c.A166T:p.K56X;TPGS2:NM_001271950:exon3:c.A166T:p.K56X;TPGS2:NM_001271956:exon3:c.A166T:p.K56X;TPGS2:NM_001271952:exon4:c.A22T:p.K8X;TPGS2:NM_001271951:exon3:c.A166T:p.K56X;TPGS2:NM_001271949:exon3:c.A166T:p.K56X;TPGS2:NM_015476:exon3:c.A166T:p.K56X;	exonic	ENSG00000134779	stopgain SNV	ENSG00000134779:ENST00000590842:exon3:c.A166T:p.K56X;ENSG00000134779:ENST00000589049:exon3:c.A166T:p.K56X;ENSG00000134779:ENST00000383056:exon3:c.A166T:p.K56X;ENSG00000134779:ENST00000587129:exon3:c.A166T:p.K56X;ENSG00000134779:ENST00000593035:exon3:c.A166T:p.K56X;ENSG00000134779:ENST00000590337:exon3:c.A166T:p.K56X;ENSG00000134779:ENST00000334295:exon3:c.A166T:p.K56X;	0.0950920762868112	0.416
18	34387897	T	C	18	36807934	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.A166G:p.K56E;TPGS2:NM_001271953:exon3:c.A166G:p.K56E;TPGS2:NM_001271955:exon3:c.A166G:p.K56E;TPGS2:NM_001271950:exon3:c.A166G:p.K56E;TPGS2:NM_001271956:exon3:c.A166G:p.K56E;TPGS2:NM_001271952:exon4:c.A22G:p.K8E;TPGS2:NM_001271951:exon3:c.A166G:p.K56E;TPGS2:NM_001271949:exon3:c.A166G:p.K56E;TPGS2:NM_015476:exon3:c.A166G:p.K56E;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.A166G:p.K56E;ENSG00000134779:ENST00000589049:exon3:c.A166G:p.K56E;ENSG00000134779:ENST00000383056:exon3:c.A166G:p.K56E;ENSG00000134779:ENST00000587129:exon3:c.A166G:p.K56E;ENSG00000134779:ENST00000593035:exon3:c.A166G:p.K56E;ENSG00000134779:ENST00000590337:exon3:c.A166G:p.K56E;ENSG00000134779:ENST00000334295:exon3:c.A166G:p.K56E;	0.00311584535718232	0.222
18	34387897	T	G	18	36807934	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon3:c.A166C:p.K56Q;TPGS2:NM_001271953:exon3:c.A166C:p.K56Q;TPGS2:NM_001271955:exon3:c.A166C:p.K56Q;TPGS2:NM_001271950:exon3:c.A166C:p.K56Q;TPGS2:NM_001271956:exon3:c.A166C:p.K56Q;TPGS2:NM_001271952:exon4:c.A22C:p.K8Q;TPGS2:NM_001271951:exon3:c.A166C:p.K56Q;TPGS2:NM_001271949:exon3:c.A166C:p.K56Q;TPGS2:NM_015476:exon3:c.A166C:p.K56Q;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon3:c.A166C:p.K56Q;ENSG00000134779:ENST00000589049:exon3:c.A166C:p.K56Q;ENSG00000134779:ENST00000383056:exon3:c.A166C:p.K56Q;ENSG00000134779:ENST00000587129:exon3:c.A166C:p.K56Q;ENSG00000134779:ENST00000593035:exon3:c.A166C:p.K56Q;ENSG00000134779:ENST00000590337:exon3:c.A166C:p.K56Q;ENSG00000134779:ENST00000334295:exon3:c.A166C:p.K56Q;	0.0130883196503063	0.212
18	34387898	C	A	18	36807935	y	y	splicing	TPGS2(NM_001271956:exon4:c.166-1G>T;NM_001271955:exon4:c.166-1G>T;NM_001271951:exon4:c.166-1G>T;NM_001271953:exon4:c.166-1G>T;NM_015476:exon4:c.166-1G>T;NM_001271949:exon4:c.166-1G>T;NM_001271950:exon4:c.166-1G>T;NM_001271954:exon4:c.166-1G>T;NM_001271952:exon5:c.22-1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.166-1G>T;ENST00000590842:exon4:c.166-1G>T;ENST00000591906:exon3:c.35-1G>T;ENST00000587382:exon4:c.129-1G>T;ENST00000334295:exon4:c.166-1G>T;ENST00000383056:exon4:c.166-1G>T;ENST00000593035:exon4:c.166-1G>T;ENST00000589049:exon4:c.166-1G>T;ENST00000591823:exon5:c.235-1G>T;ENST00000585635:exon5:c.328-1G>T;ENST00000590692:exon5:c.254-1G>T;ENST00000590337:exon4:c.166-1G>T;ENST00000587207:exon5:c.343-1G>T)	.	.	0.999987886496584	0.95
18	34387898	C	G	18	36807935	y	y	splicing	TPGS2(NM_001271956:exon4:c.166-1G>C;NM_001271955:exon4:c.166-1G>C;NM_001271951:exon4:c.166-1G>C;NM_001271953:exon4:c.166-1G>C;NM_015476:exon4:c.166-1G>C;NM_001271949:exon4:c.166-1G>C;NM_001271950:exon4:c.166-1G>C;NM_001271954:exon4:c.166-1G>C;NM_001271952:exon5:c.22-1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.166-1G>C;ENST00000590842:exon4:c.166-1G>C;ENST00000591906:exon3:c.35-1G>C;ENST00000587382:exon4:c.129-1G>C;ENST00000334295:exon4:c.166-1G>C;ENST00000383056:exon4:c.166-1G>C;ENST00000593035:exon4:c.166-1G>C;ENST00000589049:exon4:c.166-1G>C;ENST00000591823:exon5:c.235-1G>C;ENST00000585635:exon5:c.328-1G>C;ENST00000590692:exon5:c.254-1G>C;ENST00000590337:exon4:c.166-1G>C;ENST00000587207:exon5:c.343-1G>C)	.	.	0.999987886496584	0.95
18	34387898	C	T	18	36807935	y	y	splicing	TPGS2(NM_001271956:exon4:c.166-1G>A;NM_001271955:exon4:c.166-1G>A;NM_001271951:exon4:c.166-1G>A;NM_001271953:exon4:c.166-1G>A;NM_015476:exon4:c.166-1G>A;NM_001271949:exon4:c.166-1G>A;NM_001271950:exon4:c.166-1G>A;NM_001271954:exon4:c.166-1G>A;NM_001271952:exon5:c.22-1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.166-1G>A;ENST00000590842:exon4:c.166-1G>A;ENST00000591906:exon3:c.35-1G>A;ENST00000587382:exon4:c.129-1G>A;ENST00000334295:exon4:c.166-1G>A;ENST00000383056:exon4:c.166-1G>A;ENST00000593035:exon4:c.166-1G>A;ENST00000589049:exon4:c.166-1G>A;ENST00000591823:exon5:c.235-1G>A;ENST00000585635:exon5:c.328-1G>A;ENST00000590692:exon5:c.254-1G>A;ENST00000590337:exon4:c.166-1G>A;ENST00000587207:exon5:c.343-1G>A)	.	.	0.999987886496584	0.95
18	34387899	T	A	18	36807936	y	y	splicing	TPGS2(NM_001271956:exon4:c.166-2A>T;NM_001271955:exon4:c.166-2A>T;NM_001271951:exon4:c.166-2A>T;NM_001271953:exon4:c.166-2A>T;NM_015476:exon4:c.166-2A>T;NM_001271949:exon4:c.166-2A>T;NM_001271950:exon4:c.166-2A>T;NM_001271954:exon4:c.166-2A>T;NM_001271952:exon5:c.22-2A>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.166-2A>T;ENST00000590842:exon4:c.166-2A>T;ENST00000591906:exon3:c.35-2A>T;ENST00000587382:exon4:c.129-2A>T;ENST00000334295:exon4:c.166-2A>T;ENST00000383056:exon4:c.166-2A>T;ENST00000593035:exon4:c.166-2A>T;ENST00000589049:exon4:c.166-2A>T;ENST00000591823:exon5:c.235-2A>T;ENST00000585635:exon5:c.328-2A>T;ENST00000590692:exon5:c.254-2A>T;ENST00000590337:exon4:c.166-2A>T;ENST00000587207:exon5:c.343-2A>T)	.	.	0.999986741007567	0.946
18	34387899	T	C	18	36807936	y	y	splicing	TPGS2(NM_001271956:exon4:c.166-2A>G;NM_001271955:exon4:c.166-2A>G;NM_001271951:exon4:c.166-2A>G;NM_001271953:exon4:c.166-2A>G;NM_015476:exon4:c.166-2A>G;NM_001271949:exon4:c.166-2A>G;NM_001271950:exon4:c.166-2A>G;NM_001271954:exon4:c.166-2A>G;NM_001271952:exon5:c.22-2A>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.166-2A>G;ENST00000590842:exon4:c.166-2A>G;ENST00000591906:exon3:c.35-2A>G;ENST00000587382:exon4:c.129-2A>G;ENST00000334295:exon4:c.166-2A>G;ENST00000383056:exon4:c.166-2A>G;ENST00000593035:exon4:c.166-2A>G;ENST00000589049:exon4:c.166-2A>G;ENST00000591823:exon5:c.235-2A>G;ENST00000585635:exon5:c.328-2A>G;ENST00000590692:exon5:c.254-2A>G;ENST00000590337:exon4:c.166-2A>G;ENST00000587207:exon5:c.343-2A>G)	.	.	0.999986741007567	0.946
18	34387899	T	G	18	36807936	y	y	splicing	TPGS2(NM_001271956:exon4:c.166-2A>C;NM_001271955:exon4:c.166-2A>C;NM_001271951:exon4:c.166-2A>C;NM_001271953:exon4:c.166-2A>C;NM_015476:exon4:c.166-2A>C;NM_001271949:exon4:c.166-2A>C;NM_001271950:exon4:c.166-2A>C;NM_001271954:exon4:c.166-2A>C;NM_001271952:exon5:c.22-2A>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon4:c.166-2A>C;ENST00000590842:exon4:c.166-2A>C;ENST00000591906:exon3:c.35-2A>C;ENST00000587382:exon4:c.129-2A>C;ENST00000334295:exon4:c.166-2A>C;ENST00000383056:exon4:c.166-2A>C;ENST00000593035:exon4:c.166-2A>C;ENST00000589049:exon4:c.166-2A>C;ENST00000591823:exon5:c.235-2A>C;ENST00000585635:exon5:c.328-2A>C;ENST00000590692:exon5:c.254-2A>C;ENST00000590337:exon4:c.166-2A>C;ENST00000587207:exon5:c.343-2A>C)	.	.	0.999986741007567	0.946
18	34387900	A	C	18	36807937	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.977048799877614	0.604
18	34387900	A	G	18	36807937	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.18277361570437E-4	0.014
18	34387900	A	T	18	36807937	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.754195437489742	0.488
18	34387901	G	A	18	36807938	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.64638325552787E-5	0.008
18	34387901	G	C	18	36807938	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00156141000757897	0.078
18	34387901	G	T	18	36807938	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0020970105934317	0.07
18	34387902	A	C	18	36807939	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999165251714914	0.726
18	34387902	A	G	18	36807939	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0209343463137659	0.192
18	34387902	A	T	18	36807939	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.998576736285697	0.744
18	34387903	A	C	18	36807940	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999904212582398	0.976
18	34387903	A	G	18	36807940	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00188043155991725	0.13
18	34387903	A	T	18	36807940	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.596168864017663	0.622
18	34387904	T	A	18	36807941	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.60342987069694E-5	0.0
18	34387904	T	C	18	36807941	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.90962055346731E-4	0.026
18	34387904	T	G	18	36807941	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.60342987069694E-5	0.0
18	34387905	C	A	18	36807942	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.86054194892916E-4	0.016
18	34387905	C	G	18	36807942	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.86054194892916E-4	0.024
18	34387905	C	T	18	36807942	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.26376430910436E-4	0.062
18	34387906	A	C	18	36807943	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.99180473951389	0.87
18	34387906	A	G	18	36807943	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.472362799646437	0.426
18	34387906	A	T	18	36807943	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999966822987979	0.966
18	34387907	C	A	18	36807944	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.27936039045984E-5	0.042
18	34387907	C	G	18	36807944	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.2113858617276E-5	0.034
18	34387907	C	T	18	36807944	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.16591798263213E-4	0.066
18	34387908	A	C	18	36807945	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.987910442950141	0.826
18	34387908	A	G	18	36807945	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0134881169174129	0.208
18	34387908	A	T	18	36807945	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999988340572759	0.922
18	34387909	A	C	18	36807946	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.899769224569037	0.64
18	34387909	A	G	18	36807946	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0152199551446089	0.114
18	34387909	A	T	18	36807946	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.98052988122793	0.842
18	34397550	T	A	18	36817587	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.83490353963229E-5	0.002
18	34397550	T	C	18	36817587	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.41208634289763E-5	0.002
18	34397550	T	G	18	36817587	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.41208634289763E-5	0.002
18	34397551	A	C	18	36817588	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.16029726566022E-5	0.0
18	34397551	A	G	18	36817588	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.16029726566022E-5	0.0
18	34397551	A	T	18	36817588	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.16029726566022E-5	0.0
18	34397552	C	A	18	36817589	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.20639154229398E-5	0.0
18	34397552	C	G	18	36817589	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.20639154229398E-5	0.0
18	34397552	C	T	18	36817589	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.82779041686858E-5	0.0
18	34397553	C	A	18	36817590	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.82779041686858E-5	0.0
18	34397553	C	G	18	36817590	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.20639154229398E-5	0.0
18	34397553	C	T	18	36817590	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.82779041686858E-5	0.0
18	34397554	A	C	18	36817591	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.16029726566022E-5	0.0
18	34397554	A	G	18	36817591	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.16029726566022E-5	0.0
18	34397554	A	T	18	36817591	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.17601508165304E-5	0.0
18	34397555	T	A	18	36817592	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.17601508165304E-5	0.0
18	34397555	T	C	18	36817592	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.16029726566022E-5	0.0
18	34397555	T	G	18	36817592	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.16029726566022E-5	0.002
18	34397556	A	C	18	36817593	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.342+2T>G)	.	.	4.17601508165304E-5	0.0
18	34397556	A	G	18	36817593	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.342+2T>C)	.	.	7.59007358400816E-5	0.0
18	34397556	A	T	18	36817593	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.342+2T>A)	.	.	4.17601508165304E-5	0.0
18	34397557	C	A	18	36817594	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.342+1G>T)	.	.	5.82779041686858E-5	0.0
18	34397557	C	G	18	36817594	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.342+1G>C)	.	.	5.82779041686858E-5	0.0
18	34397557	C	T	18	36817594	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.342+1G>A)	.	.	5.82779041686858E-5	0.0
18	34397558	C	A	18	36817595	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	5.82779041686858E-5	0.0
18	34397558	C	G	18	36817595	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	5.82779041686858E-5	0.0
18	34397558	C	T	18	36817595	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	5.82779041686858E-5	0.0
18	34397559	T	A	18	36817596	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	3.83490353963229E-5	0.002
18	34397559	T	C	18	36817596	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	3.83490353963229E-5	0.002
18	34397559	T	G	18	36817596	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	3.83490353963229E-5	0.002
18	34397560	G	A	18	36817597	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	7.87029440284394E-5	0.0
18	34397560	G	C	18	36817597	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	7.1309087537924E-5	0.0
18	34397560	G	T	18	36817597	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	7.87029440284394E-5	0.0
18	34397733	A	C	18	36817770	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587207:exon3:c.T167G:p.M56R;	0.0399863130934985	0.202
18	34397733	A	G	18	36817770	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587207:exon3:c.T167C:p.M56T;	0.0399863130934985	0.202
18	34397733	A	T	18	36817770	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587207:exon3:c.T167A:p.M56K;	0.0517906223079821	0.214
18	34397734	T	A	18	36817771	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587207:exon3:c.A166T:p.M56L;	1.68609664277082E-4	0.11
18	34397734	T	C	18	36817771	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587207:exon3:c.A166G:p.M56V;	7.26355387047822E-5	0.11
18	34397734	T	G	18	36817771	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000587207:exon3:c.A166C:p.M56L;	7.26355387047822E-5	0.112
18	34397735	C	A	18	36817772	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.166-1G>T)	.	.	2.42539974819301E-5	0.038
18	34397735	C	G	18	36817772	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.166-1G>C)	.	.	2.42539974819301E-5	0.032
18	34397735	C	T	18	36817772	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.166-1G>A)	.	.	2.42539974819301E-5	0.042
18	34397736	T	A	18	36817773	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.166-2A>T)	.	.	2.48937318069913E-4	0.176
18	34397736	T	C	18	36817773	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.166-2A>G)	.	.	2.2109178828777E-4	0.116
18	34397736	T	G	18	36817773	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000587207:exon4:c.166-2A>C)	.	.	2.2109178828777E-4	0.116
18	34397737	A	C	18	36817774	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.126
18	34397737	A	G	18	36817774	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.126
18	34397737	A	T	18	36817774	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.196
18	34397738	T	A	18	36817775	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.02248201561964E-4	0.172
18	34397738	T	C	18	36817775	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.02248201561964E-4	0.138
18	34397738	T	G	18	36817775	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.02248201561964E-4	0.152
18	34397739	A	C	18	36817776	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.162
18	34397739	A	G	18	36817776	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.156
18	34397739	A	T	18	36817776	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.15
18	34397740	A	C	18	36817777	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.176
18	34397740	A	G	18	36817777	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.176
18	34397740	A	T	18	36817777	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.48937318069913E-4	0.148
18	34397741	A	C	18	36817778	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.5401661750273E-4	0.178
18	34397741	A	G	18	36817778	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.5401661750273E-4	0.178
18	34397741	A	T	18	36817778	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.5401661750273E-4	0.15
18	34397742	A	C	18	36817779	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.02248201561964E-4	0.176
18	34397742	A	G	18	36817779	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.02248201561964E-4	0.176
18	34397742	A	T	18	36817779	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.02248201561964E-4	0.148
18	34397743	T	A	18	36817780	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.08642743108905E-4	0.11
18	34397743	T	C	18	36817780	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.40679448166812E-5	0.068
18	34397743	T	G	18	36817780	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.40679448166812E-5	0.076
18	34397744	G	A	18	36817781	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.9871184980609E-5	0.042
18	34397744	G	C	18	36817781	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.9871184980609E-5	0.034
18	34397744	G	T	18	36817781	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.9871184980609E-5	0.038
18	34397745	G	A	18	36817782	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00119450420475642	0.128
18	34397745	G	C	18	36817782	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.03453499867669E-4	0.118
18	34397745	G	T	18	36817782	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00106100208572588	0.116
18	34397746	A	C	18	36817783	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0579370398021417	0.242
18	34397746	A	G	18	36817783	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0579370398021417	0.242
18	34397746	A	T	18	36817783	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0579370398021417	0.242
18	34398849	A	C	18	36818886	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.19166505531796E-4	0.072
18	34398849	A	G	18	36818886	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00292064170384855	0.11
18	34398849	A	T	18	36818886	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.42855569004581E-4	0.08
18	34398850	C	A	18	36818887	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.33672797455809E-5	0.054
18	34398850	C	G	18	36818887	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.82380027903409E-4	0.062
18	34398850	C	T	18	36818887	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.65806998280192E-5	0.026
18	34398851	A	C	18	36818888	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.995864303339821	0.816
18	34398851	A	G	18	36818888	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.991588367919904	0.852
18	34398851	A	T	18	36818888	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.998708815376721	0.838
18	34398852	C	A	18	36818889	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999063299408682	0.888
18	34398852	C	G	18	36818889	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.998621515492521	0.934
18	34398852	C	T	18	36818889	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.998407115337748	0.958
18	34398853	T	A	18	36818890	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.997079006576299	0.88
18	34398853	T	C	18	36818890	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.996095654402506	0.896
18	34398853	T	G	18	36818890	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.998458459427076	0.884
18	34398854	T	A	18	36818891	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.9933780661558	0.886
18	34398854	T	C	18	36818891	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.0815128396038335	0.3
18	34398854	T	G	18	36818891	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.999654652722339	0.934
18	34398855	A	C	18	36818892	y	y	splicing	TPGS2(NM_001271956:exon3:c.165+2T>G;NM_001271955:exon3:c.165+2T>G;NM_001271951:exon3:c.165+2T>G;NM_001271953:exon3:c.165+2T>G;NM_015476:exon3:c.165+2T>G;NM_001271949:exon3:c.165+2T>G;NM_001271950:exon3:c.165+2T>G;NM_001271954:exon3:c.165+2T>G;NM_001271952:exon4:c.21+2T>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.165+2T>G;ENST00000590842:exon3:c.165+2T>G;ENST00000591906:exon2:c.34+2T>G;ENST00000587382:exon3:c.128+2T>G;ENST00000334295:exon3:c.165+2T>G;ENST00000383056:exon3:c.165+2T>G;ENST00000593035:exon3:c.165+2T>G;ENST00000589049:exon3:c.165+2T>G;ENST00000591823:exon4:c.234+2T>G;ENST00000585635:exon4:c.327+2T>G;ENST00000590692:exon4:c.253+2T>G;ENST00000590337:exon3:c.165+2T>G;ENST00000587207:exon3:c.165+2T>G)	.	.	0.999986607513753	0.92
18	34398855	A	G	18	36818892	y	y	splicing	TPGS2(NM_001271956:exon3:c.165+2T>C;NM_001271955:exon3:c.165+2T>C;NM_001271951:exon3:c.165+2T>C;NM_001271953:exon3:c.165+2T>C;NM_015476:exon3:c.165+2T>C;NM_001271949:exon3:c.165+2T>C;NM_001271950:exon3:c.165+2T>C;NM_001271954:exon3:c.165+2T>C;NM_001271952:exon4:c.21+2T>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.165+2T>C;ENST00000590842:exon3:c.165+2T>C;ENST00000591906:exon2:c.34+2T>C;ENST00000587382:exon3:c.128+2T>C;ENST00000334295:exon3:c.165+2T>C;ENST00000383056:exon3:c.165+2T>C;ENST00000593035:exon3:c.165+2T>C;ENST00000589049:exon3:c.165+2T>C;ENST00000591823:exon4:c.234+2T>C;ENST00000585635:exon4:c.327+2T>C;ENST00000590692:exon4:c.253+2T>C;ENST00000590337:exon3:c.165+2T>C;ENST00000587207:exon3:c.165+2T>C)	.	.	0.993737977920058	0.578
18	34398855	A	T	18	36818892	y	y	splicing	TPGS2(NM_001271956:exon3:c.165+2T>A;NM_001271955:exon3:c.165+2T>A;NM_001271951:exon3:c.165+2T>A;NM_001271953:exon3:c.165+2T>A;NM_015476:exon3:c.165+2T>A;NM_001271949:exon3:c.165+2T>A;NM_001271950:exon3:c.165+2T>A;NM_001271954:exon3:c.165+2T>A;NM_001271952:exon4:c.21+2T>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.165+2T>A;ENST00000590842:exon3:c.165+2T>A;ENST00000591906:exon2:c.34+2T>A;ENST00000587382:exon3:c.128+2T>A;ENST00000334295:exon3:c.165+2T>A;ENST00000383056:exon3:c.165+2T>A;ENST00000593035:exon3:c.165+2T>A;ENST00000589049:exon3:c.165+2T>A;ENST00000591823:exon4:c.234+2T>A;ENST00000585635:exon4:c.327+2T>A;ENST00000590692:exon4:c.253+2T>A;ENST00000590337:exon3:c.165+2T>A;ENST00000587207:exon3:c.165+2T>A)	.	.	0.999986607513753	0.92
18	34398856	C	A	18	36818893	y	y	splicing	TPGS2(NM_001271956:exon3:c.165+1G>T;NM_001271955:exon3:c.165+1G>T;NM_001271951:exon3:c.165+1G>T;NM_001271953:exon3:c.165+1G>T;NM_015476:exon3:c.165+1G>T;NM_001271949:exon3:c.165+1G>T;NM_001271950:exon3:c.165+1G>T;NM_001271954:exon3:c.165+1G>T;NM_001271952:exon4:c.21+1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.165+1G>T;ENST00000590842:exon3:c.165+1G>T;ENST00000591906:exon2:c.34+1G>T;ENST00000587382:exon3:c.128+1G>T;ENST00000334295:exon3:c.165+1G>T;ENST00000383056:exon3:c.165+1G>T;ENST00000593035:exon3:c.165+1G>T;ENST00000589049:exon3:c.165+1G>T;ENST00000591823:exon4:c.234+1G>T;ENST00000585635:exon4:c.327+1G>T;ENST00000590692:exon4:c.253+1G>T;ENST00000590337:exon3:c.165+1G>T;ENST00000587207:exon3:c.165+1G>T)	.	.	0.999987124402133	0.938
18	34398856	C	G	18	36818893	y	y	splicing	TPGS2(NM_001271956:exon3:c.165+1G>C;NM_001271955:exon3:c.165+1G>C;NM_001271951:exon3:c.165+1G>C;NM_001271953:exon3:c.165+1G>C;NM_015476:exon3:c.165+1G>C;NM_001271949:exon3:c.165+1G>C;NM_001271950:exon3:c.165+1G>C;NM_001271954:exon3:c.165+1G>C;NM_001271952:exon4:c.21+1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.165+1G>C;ENST00000590842:exon3:c.165+1G>C;ENST00000591906:exon2:c.34+1G>C;ENST00000587382:exon3:c.128+1G>C;ENST00000334295:exon3:c.165+1G>C;ENST00000383056:exon3:c.165+1G>C;ENST00000593035:exon3:c.165+1G>C;ENST00000589049:exon3:c.165+1G>C;ENST00000591823:exon4:c.234+1G>C;ENST00000585635:exon4:c.327+1G>C;ENST00000590692:exon4:c.253+1G>C;ENST00000590337:exon3:c.165+1G>C;ENST00000587207:exon3:c.165+1G>C)	.	.	0.999987124402133	0.938
18	34398856	C	T	18	36818893	y	y	splicing	TPGS2(NM_001271956:exon3:c.165+1G>A;NM_001271955:exon3:c.165+1G>A;NM_001271951:exon3:c.165+1G>A;NM_001271953:exon3:c.165+1G>A;NM_015476:exon3:c.165+1G>A;NM_001271949:exon3:c.165+1G>A;NM_001271950:exon3:c.165+1G>A;NM_001271954:exon3:c.165+1G>A;NM_001271952:exon4:c.21+1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.165+1G>A;ENST00000590842:exon3:c.165+1G>A;ENST00000591906:exon2:c.34+1G>A;ENST00000587382:exon3:c.128+1G>A;ENST00000334295:exon3:c.165+1G>A;ENST00000383056:exon3:c.165+1G>A;ENST00000593035:exon3:c.165+1G>A;ENST00000589049:exon3:c.165+1G>A;ENST00000591823:exon4:c.234+1G>A;ENST00000585635:exon4:c.327+1G>A;ENST00000590692:exon4:c.253+1G>A;ENST00000590337:exon3:c.165+1G>A;ENST00000587207:exon3:c.165+1G>A)	.	.	0.999987124402133	0.938
18	34398857	T	A	18	36818894	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A165T:p.Q55H;TPGS2:NM_001271953:exon2:c.A165T:p.Q55H;TPGS2:NM_001271955:exon2:c.A165T:p.Q55H;TPGS2:NM_001271950:exon2:c.A165T:p.Q55H;TPGS2:NM_001271956:exon2:c.A165T:p.Q55H;TPGS2:NM_001271952:exon3:c.A21T:p.Q7H;TPGS2:NM_001271951:exon2:c.A165T:p.Q55H;TPGS2:NM_001271949:exon2:c.A165T:p.Q55H;TPGS2:NM_015476:exon2:c.A165T:p.Q55H;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A165T:p.Q55H;ENSG00000134779:ENST00000589049:exon2:c.A165T:p.Q55H;ENSG00000134779:ENST00000587207:exon2:c.A165T:p.Q55H;ENSG00000134779:ENST00000383056:exon2:c.A165T:p.Q55H;ENSG00000134779:ENST00000587129:exon2:c.A165T:p.Q55H;ENSG00000134779:ENST00000593035:exon2:c.A165T:p.Q55H;ENSG00000134779:ENST00000590337:exon2:c.A165T:p.Q55H;ENSG00000134779:ENST00000334295:exon2:c.A165T:p.Q55H;ENSG00000134779:ENST00000588909:exon2:c.A129T:p.Q43H;	1.96011365928923E-4	0.142
18	34398857	T	C	18	36818894	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon2:c.A165G:p.Q55Q;TPGS2:NM_001271953:exon2:c.A165G:p.Q55Q;TPGS2:NM_001271955:exon2:c.A165G:p.Q55Q;TPGS2:NM_001271950:exon2:c.A165G:p.Q55Q;TPGS2:NM_001271956:exon2:c.A165G:p.Q55Q;TPGS2:NM_001271952:exon3:c.A21G:p.Q7Q;TPGS2:NM_001271951:exon2:c.A165G:p.Q55Q;TPGS2:NM_001271949:exon2:c.A165G:p.Q55Q;TPGS2:NM_015476:exon2:c.A165G:p.Q55Q;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A165G:p.Q55Q;ENSG00000134779:ENST00000589049:exon2:c.A165G:p.Q55Q;ENSG00000134779:ENST00000587207:exon2:c.A165G:p.Q55Q;ENSG00000134779:ENST00000383056:exon2:c.A165G:p.Q55Q;ENSG00000134779:ENST00000587129:exon2:c.A165G:p.Q55Q;ENSG00000134779:ENST00000593035:exon2:c.A165G:p.Q55Q;ENSG00000134779:ENST00000590337:exon2:c.A165G:p.Q55Q;ENSG00000134779:ENST00000334295:exon2:c.A165G:p.Q55Q;ENSG00000134779:ENST00000588909:exon2:c.A129G:p.Q43Q;	3.34050463208119E-5	0.026
18	34398857	T	G	18	36818894	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A165C:p.Q55H;TPGS2:NM_001271953:exon2:c.A165C:p.Q55H;TPGS2:NM_001271955:exon2:c.A165C:p.Q55H;TPGS2:NM_001271950:exon2:c.A165C:p.Q55H;TPGS2:NM_001271956:exon2:c.A165C:p.Q55H;TPGS2:NM_001271952:exon3:c.A21C:p.Q7H;TPGS2:NM_001271951:exon2:c.A165C:p.Q55H;TPGS2:NM_001271949:exon2:c.A165C:p.Q55H;TPGS2:NM_015476:exon2:c.A165C:p.Q55H;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A165C:p.Q55H;ENSG00000134779:ENST00000589049:exon2:c.A165C:p.Q55H;ENSG00000134779:ENST00000587207:exon2:c.A165C:p.Q55H;ENSG00000134779:ENST00000383056:exon2:c.A165C:p.Q55H;ENSG00000134779:ENST00000587129:exon2:c.A165C:p.Q55H;ENSG00000134779:ENST00000593035:exon2:c.A165C:p.Q55H;ENSG00000134779:ENST00000590337:exon2:c.A165C:p.Q55H;ENSG00000134779:ENST00000334295:exon2:c.A165C:p.Q55H;ENSG00000134779:ENST00000588909:exon2:c.A129C:p.Q43H;	2.47829002787886E-5	0.092
18	34398858	T	A	18	36818895	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A164T:p.Q55L;TPGS2:NM_001271953:exon2:c.A164T:p.Q55L;TPGS2:NM_001271955:exon2:c.A164T:p.Q55L;TPGS2:NM_001271950:exon2:c.A164T:p.Q55L;TPGS2:NM_001271956:exon2:c.A164T:p.Q55L;TPGS2:NM_001271952:exon3:c.A20T:p.Q7L;TPGS2:NM_001271951:exon2:c.A164T:p.Q55L;TPGS2:NM_001271949:exon2:c.A164T:p.Q55L;TPGS2:NM_015476:exon2:c.A164T:p.Q55L;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A164T:p.Q55L;ENSG00000134779:ENST00000589049:exon2:c.A164T:p.Q55L;ENSG00000134779:ENST00000587207:exon2:c.A164T:p.Q55L;ENSG00000134779:ENST00000383056:exon2:c.A164T:p.Q55L;ENSG00000134779:ENST00000587129:exon2:c.A164T:p.Q55L;ENSG00000134779:ENST00000593035:exon2:c.A164T:p.Q55L;ENSG00000134779:ENST00000590337:exon2:c.A164T:p.Q55L;ENSG00000134779:ENST00000334295:exon2:c.A164T:p.Q55L;ENSG00000134779:ENST00000588909:exon2:c.A128T:p.Q43L;	0.991507067805579	0.864
18	34398858	T	C	18	36818895	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A164G:p.Q55R;TPGS2:NM_001271953:exon2:c.A164G:p.Q55R;TPGS2:NM_001271955:exon2:c.A164G:p.Q55R;TPGS2:NM_001271950:exon2:c.A164G:p.Q55R;TPGS2:NM_001271956:exon2:c.A164G:p.Q55R;TPGS2:NM_001271952:exon3:c.A20G:p.Q7R;TPGS2:NM_001271951:exon2:c.A164G:p.Q55R;TPGS2:NM_001271949:exon2:c.A164G:p.Q55R;TPGS2:NM_015476:exon2:c.A164G:p.Q55R;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A164G:p.Q55R;ENSG00000134779:ENST00000589049:exon2:c.A164G:p.Q55R;ENSG00000134779:ENST00000587207:exon2:c.A164G:p.Q55R;ENSG00000134779:ENST00000383056:exon2:c.A164G:p.Q55R;ENSG00000134779:ENST00000587129:exon2:c.A164G:p.Q55R;ENSG00000134779:ENST00000593035:exon2:c.A164G:p.Q55R;ENSG00000134779:ENST00000590337:exon2:c.A164G:p.Q55R;ENSG00000134779:ENST00000334295:exon2:c.A164G:p.Q55R;ENSG00000134779:ENST00000588909:exon2:c.A128G:p.Q43R;	0.987045257102821	0.892
18	34398858	T	G	18	36818895	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A164C:p.Q55P;TPGS2:NM_001271953:exon2:c.A164C:p.Q55P;TPGS2:NM_001271955:exon2:c.A164C:p.Q55P;TPGS2:NM_001271950:exon2:c.A164C:p.Q55P;TPGS2:NM_001271956:exon2:c.A164C:p.Q55P;TPGS2:NM_001271952:exon3:c.A20C:p.Q7P;TPGS2:NM_001271951:exon2:c.A164C:p.Q55P;TPGS2:NM_001271949:exon2:c.A164C:p.Q55P;TPGS2:NM_015476:exon2:c.A164C:p.Q55P;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A164C:p.Q55P;ENSG00000134779:ENST00000589049:exon2:c.A164C:p.Q55P;ENSG00000134779:ENST00000587207:exon2:c.A164C:p.Q55P;ENSG00000134779:ENST00000383056:exon2:c.A164C:p.Q55P;ENSG00000134779:ENST00000587129:exon2:c.A164C:p.Q55P;ENSG00000134779:ENST00000593035:exon2:c.A164C:p.Q55P;ENSG00000134779:ENST00000590337:exon2:c.A164C:p.Q55P;ENSG00000134779:ENST00000334295:exon2:c.A164C:p.Q55P;ENSG00000134779:ENST00000588909:exon2:c.A128C:p.Q43P;	0.989610204512301	0.868
18	34398859	G	A	18	36818896	y	y	exonic	TPGS2	stopgain SNV	TPGS2:NM_001271954:exon2:c.C163T:p.Q55X;TPGS2:NM_001271953:exon2:c.C163T:p.Q55X;TPGS2:NM_001271955:exon2:c.C163T:p.Q55X;TPGS2:NM_001271950:exon2:c.C163T:p.Q55X;TPGS2:NM_001271956:exon2:c.C163T:p.Q55X;TPGS2:NM_001271952:exon3:c.C19T:p.Q7X;TPGS2:NM_001271951:exon2:c.C163T:p.Q55X;TPGS2:NM_001271949:exon2:c.C163T:p.Q55X;TPGS2:NM_015476:exon2:c.C163T:p.Q55X;	exonic	ENSG00000134779	stopgain SNV	ENSG00000134779:ENST00000590842:exon2:c.C163T:p.Q55X;ENSG00000134779:ENST00000589049:exon2:c.C163T:p.Q55X;ENSG00000134779:ENST00000587207:exon2:c.C163T:p.Q55X;ENSG00000134779:ENST00000383056:exon2:c.C163T:p.Q55X;ENSG00000134779:ENST00000587129:exon2:c.C163T:p.Q55X;ENSG00000134779:ENST00000593035:exon2:c.C163T:p.Q55X;ENSG00000134779:ENST00000590337:exon2:c.C163T:p.Q55X;ENSG00000134779:ENST00000334295:exon2:c.C163T:p.Q55X;ENSG00000134779:ENST00000588909:exon2:c.C127T:p.Q43X;	0.99829517834469	0.896
18	34398859	G	C	18	36818896	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.C163G:p.Q55E;TPGS2:NM_001271953:exon2:c.C163G:p.Q55E;TPGS2:NM_001271955:exon2:c.C163G:p.Q55E;TPGS2:NM_001271950:exon2:c.C163G:p.Q55E;TPGS2:NM_001271956:exon2:c.C163G:p.Q55E;TPGS2:NM_001271952:exon3:c.C19G:p.Q7E;TPGS2:NM_001271951:exon2:c.C163G:p.Q55E;TPGS2:NM_001271949:exon2:c.C163G:p.Q55E;TPGS2:NM_015476:exon2:c.C163G:p.Q55E;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.C163G:p.Q55E;ENSG00000134779:ENST00000589049:exon2:c.C163G:p.Q55E;ENSG00000134779:ENST00000587207:exon2:c.C163G:p.Q55E;ENSG00000134779:ENST00000383056:exon2:c.C163G:p.Q55E;ENSG00000134779:ENST00000587129:exon2:c.C163G:p.Q55E;ENSG00000134779:ENST00000593035:exon2:c.C163G:p.Q55E;ENSG00000134779:ENST00000590337:exon2:c.C163G:p.Q55E;ENSG00000134779:ENST00000334295:exon2:c.C163G:p.Q55E;ENSG00000134779:ENST00000588909:exon2:c.C127G:p.Q43E;	0.925740154256221	0.578
18	34398859	G	T	18	36818896	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.C163A:p.Q55K;TPGS2:NM_001271953:exon2:c.C163A:p.Q55K;TPGS2:NM_001271955:exon2:c.C163A:p.Q55K;TPGS2:NM_001271950:exon2:c.C163A:p.Q55K;TPGS2:NM_001271956:exon2:c.C163A:p.Q55K;TPGS2:NM_001271952:exon3:c.C19A:p.Q7K;TPGS2:NM_001271951:exon2:c.C163A:p.Q55K;TPGS2:NM_001271949:exon2:c.C163A:p.Q55K;TPGS2:NM_015476:exon2:c.C163A:p.Q55K;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.C163A:p.Q55K;ENSG00000134779:ENST00000589049:exon2:c.C163A:p.Q55K;ENSG00000134779:ENST00000587207:exon2:c.C163A:p.Q55K;ENSG00000134779:ENST00000383056:exon2:c.C163A:p.Q55K;ENSG00000134779:ENST00000587129:exon2:c.C163A:p.Q55K;ENSG00000134779:ENST00000593035:exon2:c.C163A:p.Q55K;ENSG00000134779:ENST00000590337:exon2:c.C163A:p.Q55K;ENSG00000134779:ENST00000334295:exon2:c.C163A:p.Q55K;ENSG00000134779:ENST00000588909:exon2:c.C127A:p.Q43K;	0.957756225637625	0.756
18	34398935	T	A	18	36818972	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A87T:p.E29D;TPGS2:NM_001271953:exon2:c.A87T:p.E29D;TPGS2:NM_001271955:exon2:c.A87T:p.E29D;TPGS2:NM_001271950:exon2:c.A87T:p.E29D;TPGS2:NM_001271956:exon2:c.A87T:p.E29D;TPGS2:NM_001271951:exon2:c.A87T:p.E29D;TPGS2:NM_001271949:exon2:c.A87T:p.E29D;TPGS2:NM_015476:exon2:c.A87T:p.E29D;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A87T:p.E29D;ENSG00000134779:ENST00000589049:exon2:c.A87T:p.E29D;ENSG00000134779:ENST00000587207:exon2:c.A87T:p.E29D;ENSG00000134779:ENST00000383056:exon2:c.A87T:p.E29D;ENSG00000134779:ENST00000587129:exon2:c.A87T:p.E29D;ENSG00000134779:ENST00000593035:exon2:c.A87T:p.E29D;ENSG00000134779:ENST00000590337:exon2:c.A87T:p.E29D;ENSG00000134779:ENST00000334295:exon2:c.A87T:p.E29D;	0.899652597821893	0.816
18	34398935	T	C	18	36818972	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon2:c.A87G:p.E29E;TPGS2:NM_001271953:exon2:c.A87G:p.E29E;TPGS2:NM_001271955:exon2:c.A87G:p.E29E;TPGS2:NM_001271950:exon2:c.A87G:p.E29E;TPGS2:NM_001271956:exon2:c.A87G:p.E29E;TPGS2:NM_001271951:exon2:c.A87G:p.E29E;TPGS2:NM_001271949:exon2:c.A87G:p.E29E;TPGS2:NM_015476:exon2:c.A87G:p.E29E;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A87G:p.E29E;ENSG00000134779:ENST00000589049:exon2:c.A87G:p.E29E;ENSG00000134779:ENST00000587207:exon2:c.A87G:p.E29E;ENSG00000134779:ENST00000383056:exon2:c.A87G:p.E29E;ENSG00000134779:ENST00000587129:exon2:c.A87G:p.E29E;ENSG00000134779:ENST00000593035:exon2:c.A87G:p.E29E;ENSG00000134779:ENST00000590337:exon2:c.A87G:p.E29E;ENSG00000134779:ENST00000334295:exon2:c.A87G:p.E29E;	0.469324777250465	0.518
18	34398935	T	G	18	36818972	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A87C:p.E29D;TPGS2:NM_001271953:exon2:c.A87C:p.E29D;TPGS2:NM_001271955:exon2:c.A87C:p.E29D;TPGS2:NM_001271950:exon2:c.A87C:p.E29D;TPGS2:NM_001271956:exon2:c.A87C:p.E29D;TPGS2:NM_001271951:exon2:c.A87C:p.E29D;TPGS2:NM_001271949:exon2:c.A87C:p.E29D;TPGS2:NM_015476:exon2:c.A87C:p.E29D;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A87C:p.E29D;ENSG00000134779:ENST00000589049:exon2:c.A87C:p.E29D;ENSG00000134779:ENST00000587207:exon2:c.A87C:p.E29D;ENSG00000134779:ENST00000383056:exon2:c.A87C:p.E29D;ENSG00000134779:ENST00000587129:exon2:c.A87C:p.E29D;ENSG00000134779:ENST00000593035:exon2:c.A87C:p.E29D;ENSG00000134779:ENST00000590337:exon2:c.A87C:p.E29D;ENSG00000134779:ENST00000334295:exon2:c.A87C:p.E29D;	0.950512186251017	0.832
18	34398936	T	A	18	36818973	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A86T:p.E29V;TPGS2:NM_001271953:exon2:c.A86T:p.E29V;TPGS2:NM_001271955:exon2:c.A86T:p.E29V;TPGS2:NM_001271950:exon2:c.A86T:p.E29V;TPGS2:NM_001271956:exon2:c.A86T:p.E29V;TPGS2:NM_001271951:exon2:c.A86T:p.E29V;TPGS2:NM_001271949:exon2:c.A86T:p.E29V;TPGS2:NM_015476:exon2:c.A86T:p.E29V;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A86T:p.E29V;ENSG00000134779:ENST00000589049:exon2:c.A86T:p.E29V;ENSG00000134779:ENST00000587207:exon2:c.A86T:p.E29V;ENSG00000134779:ENST00000383056:exon2:c.A86T:p.E29V;ENSG00000134779:ENST00000587129:exon2:c.A86T:p.E29V;ENSG00000134779:ENST00000593035:exon2:c.A86T:p.E29V;ENSG00000134779:ENST00000590337:exon2:c.A86T:p.E29V;ENSG00000134779:ENST00000334295:exon2:c.A86T:p.E29V;	0.521958895963265	0.638
18	34398936	T	C	18	36818973	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A86G:p.E29G;TPGS2:NM_001271953:exon2:c.A86G:p.E29G;TPGS2:NM_001271955:exon2:c.A86G:p.E29G;TPGS2:NM_001271950:exon2:c.A86G:p.E29G;TPGS2:NM_001271956:exon2:c.A86G:p.E29G;TPGS2:NM_001271951:exon2:c.A86G:p.E29G;TPGS2:NM_001271949:exon2:c.A86G:p.E29G;TPGS2:NM_015476:exon2:c.A86G:p.E29G;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A86G:p.E29G;ENSG00000134779:ENST00000589049:exon2:c.A86G:p.E29G;ENSG00000134779:ENST00000587207:exon2:c.A86G:p.E29G;ENSG00000134779:ENST00000383056:exon2:c.A86G:p.E29G;ENSG00000134779:ENST00000587129:exon2:c.A86G:p.E29G;ENSG00000134779:ENST00000593035:exon2:c.A86G:p.E29G;ENSG00000134779:ENST00000590337:exon2:c.A86G:p.E29G;ENSG00000134779:ENST00000334295:exon2:c.A86G:p.E29G;	0.701500988212742	0.644
18	34398936	T	G	18	36818973	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon2:c.A86C:p.E29A;TPGS2:NM_001271953:exon2:c.A86C:p.E29A;TPGS2:NM_001271955:exon2:c.A86C:p.E29A;TPGS2:NM_001271950:exon2:c.A86C:p.E29A;TPGS2:NM_001271956:exon2:c.A86C:p.E29A;TPGS2:NM_001271951:exon2:c.A86C:p.E29A;TPGS2:NM_001271949:exon2:c.A86C:p.E29A;TPGS2:NM_015476:exon2:c.A86C:p.E29A;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon2:c.A86C:p.E29A;ENSG00000134779:ENST00000589049:exon2:c.A86C:p.E29A;ENSG00000134779:ENST00000587207:exon2:c.A86C:p.E29A;ENSG00000134779:ENST00000383056:exon2:c.A86C:p.E29A;ENSG00000134779:ENST00000587129:exon2:c.A86C:p.E29A;ENSG00000134779:ENST00000593035:exon2:c.A86C:p.E29A;ENSG00000134779:ENST00000590337:exon2:c.A86C:p.E29A;ENSG00000134779:ENST00000334295:exon2:c.A86C:p.E29A;	0.592088826834621	0.688
18	34398937	C	A	18	36818974	y	y	splicing	TPGS2(NM_001271956:exon3:c.86-1G>T;NM_001271955:exon3:c.86-1G>T;NM_001271951:exon3:c.86-1G>T;NM_001271953:exon3:c.86-1G>T;NM_015476:exon3:c.86-1G>T;NM_001271949:exon3:c.86-1G>T;NM_001271950:exon3:c.86-1G>T;NM_001271954:exon3:c.86-1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.86-1G>T;ENST00000590842:exon3:c.86-1G>T;ENST00000587382:exon3:c.49-1G>T;ENST00000334295:exon3:c.86-1G>T;ENST00000383056:exon3:c.86-1G>T;ENST00000593035:exon3:c.86-1G>T;ENST00000589049:exon3:c.86-1G>T;ENST00000591823:exon4:c.155-1G>T;ENST00000585635:exon4:c.248-1G>T;ENST00000590337:exon3:c.86-1G>T;ENST00000587207:exon3:c.86-1G>T)	.	.	0.999990361384395	0.938
18	34398937	C	G	18	36818974	y	y	splicing	TPGS2(NM_001271956:exon3:c.86-1G>C;NM_001271955:exon3:c.86-1G>C;NM_001271951:exon3:c.86-1G>C;NM_001271953:exon3:c.86-1G>C;NM_015476:exon3:c.86-1G>C;NM_001271949:exon3:c.86-1G>C;NM_001271950:exon3:c.86-1G>C;NM_001271954:exon3:c.86-1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.86-1G>C;ENST00000590842:exon3:c.86-1G>C;ENST00000587382:exon3:c.49-1G>C;ENST00000334295:exon3:c.86-1G>C;ENST00000383056:exon3:c.86-1G>C;ENST00000593035:exon3:c.86-1G>C;ENST00000589049:exon3:c.86-1G>C;ENST00000591823:exon4:c.155-1G>C;ENST00000585635:exon4:c.248-1G>C;ENST00000590337:exon3:c.86-1G>C;ENST00000587207:exon3:c.86-1G>C)	.	.	0.999990361384395	0.938
18	34398937	C	T	18	36818974	y	y	splicing	TPGS2(NM_001271956:exon3:c.86-1G>A;NM_001271955:exon3:c.86-1G>A;NM_001271951:exon3:c.86-1G>A;NM_001271953:exon3:c.86-1G>A;NM_015476:exon3:c.86-1G>A;NM_001271949:exon3:c.86-1G>A;NM_001271950:exon3:c.86-1G>A;NM_001271954:exon3:c.86-1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.86-1G>A;ENST00000590842:exon3:c.86-1G>A;ENST00000587382:exon3:c.49-1G>A;ENST00000334295:exon3:c.86-1G>A;ENST00000383056:exon3:c.86-1G>A;ENST00000593035:exon3:c.86-1G>A;ENST00000589049:exon3:c.86-1G>A;ENST00000591823:exon4:c.155-1G>A;ENST00000585635:exon4:c.248-1G>A;ENST00000590337:exon3:c.86-1G>A;ENST00000587207:exon3:c.86-1G>A)	.	.	0.999990361384395	0.938
18	34398938	T	A	18	36818975	y	y	splicing	TPGS2(NM_001271956:exon3:c.86-2A>T;NM_001271955:exon3:c.86-2A>T;NM_001271951:exon3:c.86-2A>T;NM_001271953:exon3:c.86-2A>T;NM_015476:exon3:c.86-2A>T;NM_001271949:exon3:c.86-2A>T;NM_001271950:exon3:c.86-2A>T;NM_001271954:exon3:c.86-2A>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.86-2A>T;ENST00000590842:exon3:c.86-2A>T;ENST00000587382:exon3:c.49-2A>T;ENST00000334295:exon3:c.86-2A>T;ENST00000383056:exon3:c.86-2A>T;ENST00000593035:exon3:c.86-2A>T;ENST00000589049:exon3:c.86-2A>T;ENST00000591823:exon4:c.155-2A>T;ENST00000585635:exon4:c.248-2A>T;ENST00000590337:exon3:c.86-2A>T;ENST00000587207:exon3:c.86-2A>T)	.	.	0.999988247793601	0.93
18	34398938	T	C	18	36818975	y	y	splicing	TPGS2(NM_001271956:exon3:c.86-2A>G;NM_001271955:exon3:c.86-2A>G;NM_001271951:exon3:c.86-2A>G;NM_001271953:exon3:c.86-2A>G;NM_015476:exon3:c.86-2A>G;NM_001271949:exon3:c.86-2A>G;NM_001271950:exon3:c.86-2A>G;NM_001271954:exon3:c.86-2A>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.86-2A>G;ENST00000590842:exon3:c.86-2A>G;ENST00000587382:exon3:c.49-2A>G;ENST00000334295:exon3:c.86-2A>G;ENST00000383056:exon3:c.86-2A>G;ENST00000593035:exon3:c.86-2A>G;ENST00000589049:exon3:c.86-2A>G;ENST00000591823:exon4:c.155-2A>G;ENST00000585635:exon4:c.248-2A>G;ENST00000590337:exon3:c.86-2A>G;ENST00000587207:exon3:c.86-2A>G)	.	.	0.999988247793601	0.93
18	34398938	T	G	18	36818975	y	y	splicing	TPGS2(NM_001271956:exon3:c.86-2A>C;NM_001271955:exon3:c.86-2A>C;NM_001271951:exon3:c.86-2A>C;NM_001271953:exon3:c.86-2A>C;NM_015476:exon3:c.86-2A>C;NM_001271949:exon3:c.86-2A>C;NM_001271950:exon3:c.86-2A>C;NM_001271954:exon3:c.86-2A>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon3:c.86-2A>C;ENST00000590842:exon3:c.86-2A>C;ENST00000587382:exon3:c.49-2A>C;ENST00000334295:exon3:c.86-2A>C;ENST00000383056:exon3:c.86-2A>C;ENST00000593035:exon3:c.86-2A>C;ENST00000589049:exon3:c.86-2A>C;ENST00000591823:exon4:c.155-2A>C;ENST00000585635:exon4:c.248-2A>C;ENST00000590337:exon3:c.86-2A>C;ENST00000587207:exon3:c.86-2A>C)	.	.	0.999988247793601	0.93
18	34398939	G	A	18	36818976	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	7.45895510552925E-4	0.038
18	34398939	G	C	18	36818976	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.990151916761895	0.798
18	34398939	G	T	18	36818976	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.253729812152694	0.364
18	34398940	G	A	18	36818977	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	5.55135553813451E-5	0.002
18	34398940	G	C	18	36818977	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	5.35847094305936E-5	0.002
18	34398940	G	T	18	36818977	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	5.55135553813451E-5	0.002
18	34398941	A	C	18	36818978	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.0101130266936807	0.254
18	34398941	A	G	18	36818978	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00173796266932104	0.05
18	34398941	A	T	18	36818978	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00676580615367128	0.224
18	34398942	A	C	18	36818979	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	6.97400392884601E-4	0.056
18	34398942	A	G	18	36818979	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	3.60749653026222E-5	0.006
18	34398942	A	T	18	36818979	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	7.71497336738745E-4	0.032
18	34398943	G	A	18	36818980	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	8.87187037659307E-4	0.004
18	34398943	G	C	18	36818980	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00227814280237147	0.078
18	34398943	G	T	18	36818980	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.0035732169972306	0.09
18	34398944	A	C	18	36818981	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00261504027020898	0.042
18	34398944	A	G	18	36818981	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	2.53581997430371E-4	0.002
18	34398944	A	T	18	36818981	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.0173356461219955	0.086
18	34398945	G	A	18	36818982	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	1.33217390819845E-4	0.026
18	34398945	G	C	18	36818982	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	7.31793821847334E-4	0.032
18	34398945	G	T	18	36818982	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	9.21991173796175E-4	0.036
18	34398946	A	C	18	36818983	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	1.82264345486117E-4	0.04
18	34398946	A	G	18	36818983	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	7.3831911295212E-5	0.004
18	34398946	A	T	18	36818983	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	4.75461768539224E-4	0.04
18	34398947	A	C	18	36818984	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00139800552080684	0.124
18	34398947	A	G	18	36818984	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	1.28168117161241E-4	0.012
18	34398947	A	T	18	36818984	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00149729484589152	0.094
18	34398948	A	C	18	36818985	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00195613425921252	0.12
18	34398948	A	G	18	36818985	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	4.81312883187919E-4	0.004
18	34398948	A	T	18	36818985	y	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00255903594705666	0.148
18	34398954	G	A	18	36818991	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	2.57344206711262E-5	0.0
18	34398954	G	C	18	36818991	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	6.85491943708845E-5	0.002
18	34398954	G	T	18	36818991	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	6.67617659249055E-5	0.0
18	34398955	T	A	18	36818992	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	1.78662238186337E-5	0.0
18	34398955	T	C	18	36818992	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	9.23930789342425E-5	0.0
18	34398955	T	G	18	36818992	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	1.78662238186337E-5	0.0
18	34398956	C	A	18	36818993	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590692:exon4:c.155-1G>T)	.	.	9.11696894649936E-5	0.004
18	34398956	C	G	18	36818993	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590692:exon4:c.155-1G>C)	.	.	8.75538498902536E-5	0.0
18	34398956	C	T	18	36818993	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590692:exon4:c.155-1G>A)	.	.	1.33017323111981E-4	0.002
18	34398957	T	A	18	36818994	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590692:exon4:c.155-2A>T)	.	.	2.88647505928158E-5	0.0
18	34398957	T	C	18	36818994	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590692:exon4:c.155-2A>G)	.	.	3.48612641684273E-5	0.0
18	34398957	T	G	18	36818994	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000590692:exon4:c.155-2A>C)	.	.	2.07804976468356E-5	0.0
18	34398958	G	A	18	36818995	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.33510361847212E-4	0.018
18	34398958	G	C	18	36818995	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.33510361847212E-4	0.018
18	34398958	G	T	18	36818995	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.33510361847212E-4	0.018
18	34398959	T	A	18	36818996	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.76357584838511E-5	0.02
18	34398959	T	C	18	36818996	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.76357584838511E-5	0.02
18	34398959	T	G	18	36818996	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.76357584838511E-5	0.02
18	34398960	A	C	18	36818997	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00232869313350842	0.016
18	34398960	A	G	18	36818997	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00232869313350842	0.018
18	34398960	A	T	18	36818997	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00230452285598054	0.022
18	34398961	G	A	18	36818998	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.69930370103191E-5	0.0
18	34398961	G	C	18	36818998	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.69930370103191E-5	0.0
18	34398961	G	T	18	36818998	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.69930370103191E-5	0.004
18	34398962	A	C	18	36818999	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.63629494390912E-4	0.018
18	34398962	A	G	18	36818999	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.63629494390912E-4	0.018
18	34398962	A	T	18	36818999	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.63629494390912E-4	0.042
18	34398963	G	A	18	36819000	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.13192503172253E-5	0.0
18	34398963	G	C	18	36819000	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.13192503172253E-5	0.0
18	34398963	G	T	18	36819000	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.13192503172253E-5	0.0
18	34398964	T	A	18	36819001	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.27477746119029E-5	0.0
18	34398964	T	C	18	36819001	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.33815804894828E-5	0.0
18	34398964	T	G	18	36819001	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.33815804894828E-5	0.0
18	34398965	T	A	18	36819002	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.93008933363103E-5	0.0
18	34398965	T	C	18	36819002	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.93008933363103E-5	0.0
18	34398965	T	G	18	36819002	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.93008933363103E-5	0.0
18	34398966	G	A	18	36819003	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.00176471611214E-5	0.006
18	34398966	G	C	18	36819003	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.45587919698565E-5	0.006
18	34398966	G	T	18	36819003	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.00176471611214E-5	0.006
18	34398967	C	A	18	36819004	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.04349982970396E-5	0.002
18	34398967	C	G	18	36819004	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.04349982970396E-5	0.002
18	34398967	C	T	18	36819004	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.04349982970396E-5	0.002
18	34400923	A	C	18	36820960	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.33930376896499E-5	0.0
18	34400923	A	G	18	36820960	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.33930376896499E-5	0.0
18	34400923	A	T	18	36820960	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.33930376896499E-5	0.0
18	34400924	A	C	18	36820961	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.95853904142978E-5	0.004
18	34400924	A	G	18	36820961	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.95853904142978E-5	0.008
18	34400924	A	T	18	36820961	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.95853904142978E-5	0.002
18	34400925	A	C	18	36820962	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.87272745333622E-4	0.0
18	34400925	A	G	18	36820962	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.87272745333622E-4	0.0
18	34400925	A	T	18	36820962	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.87272745333622E-4	0.0
18	34400926	C	A	18	36820963	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.31929338280547E-5	0.008
18	34400926	C	G	18	36820963	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.31929338280547E-5	0.004
18	34400926	C	T	18	36820963	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.89925739660516E-5	0.008
18	34400927	T	A	18	36820964	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.33930376896499E-5	0.0
18	34400927	T	C	18	36820964	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.33930376896499E-5	0.0
18	34400927	T	G	18	36820964	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.33930376896499E-5	0.0
18	34400928	C	A	18	36820965	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.67272766448078E-5	0.0
18	34400928	C	G	18	36820965	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.67272766448078E-5	0.008
18	34400928	C	T	18	36820965	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.67272766448078E-5	0.0
18	34400929	A	C	18	36820966	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.247+2T>G)	.	.	2.45427510716187E-4	0.0
18	34400929	A	G	18	36820966	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.247+2T>C)	.	.	2.45427510716187E-4	0.0
18	34400929	A	T	18	36820966	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.247+2T>A)	.	.	1.1189536267874E-4	0.0
18	34400930	C	A	18	36820967	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.247+1G>T)	.	.	2.61085043127738E-5	0.006
18	34400930	C	G	18	36820967	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.247+1G>C)	.	.	2.61085043127738E-5	0.004
18	34400930	C	T	18	36820967	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.247+1G>A)	.	.	2.61085043127738E-5	0.064
18	34400931	A	C	18	36820968	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	9.63734018024452E-5	0.0
18	34400931	A	G	18	36820968	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	9.63734018024452E-5	0.0
18	34400931	A	T	18	36820968	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	9.63734018024452E-5	0.0
18	34400932	T	A	18	36820969	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	2.72841159385093E-5	0.0
18	34400932	T	C	18	36820969	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	2.72841159385093E-5	0.0
18	34400932	T	G	18	36820969	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	2.72841159385093E-5	0.0
18	34400933	C	A	18	36820970	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	2.12967705479703E-5	0.002
18	34400933	C	G	18	36820970	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	2.12967705479703E-5	0.002
18	34400933	C	T	18	36820970	n	y	intronic	TPGS2	.	.	UTR3	ENSG00000134779	.	.	3.951189346585E-5	0.002
18	34401091	C	A	18	36821128	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000585635:exon2:c.G87T:p.G29G;	2.84193600056129E-5	0.0
18	34401091	C	G	18	36821128	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000585635:exon2:c.G87C:p.G29G;	2.84193600056129E-5	0.0
18	34401091	C	T	18	36821128	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000585635:exon2:c.G87A:p.G29G;	3.06651109346937E-5	0.0
18	34401092	C	A	18	36821129	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000585635:exon2:c.G86T:p.G29V;	7.04290327727273E-6	0.0
18	34401092	C	G	18	36821129	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000585635:exon2:c.G86C:p.G29A;	7.04290327727273E-6	0.004
18	34401092	C	T	18	36821129	n	y	intronic	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000585635:exon2:c.G86A:p.G29E;	1.08788427788342E-5	0.0
18	34401093	C	A	18	36821130	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.86-1G>T)	.	.	3.61950794452343E-5	0.002
18	34401093	C	G	18	36821130	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.86-1G>C)	.	.	3.61950794452343E-5	0.002
18	34401093	C	T	18	36821130	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.86-1G>A)	.	.	7.54008979229845E-5	0.008
18	34401094	T	A	18	36821131	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.86-2A>T)	.	.	3.49403053016175E-5	0.004
18	34401094	T	C	18	36821131	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.86-2A>G)	.	.	3.06651109346937E-5	0.004
18	34401094	T	G	18	36821131	n	y	intronic	TPGS2	.	.	splicing	ENSG00000134779(ENST00000585635:exon3:c.86-2A>C)	.	.	3.06651109346937E-5	0.004
18	34401095	A	C	18	36821132	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.07620641825897E-5	0.0
18	34401095	A	G	18	36821132	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.07620641825897E-5	0.0
18	34401095	A	T	18	36821132	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.07620641825897E-5	0.0
18	34401096	T	A	18	36821133	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.68219155180855E-5	0.0
18	34401096	T	C	18	36821133	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.68219155180855E-5	0.0
18	34401096	T	G	18	36821133	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.68219155180855E-5	0.0
18	34401097	A	C	18	36821134	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58927937202005E-5	0.002
18	34401097	A	G	18	36821134	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58927937202005E-5	0.002
18	34401097	A	T	18	36821134	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58927937202005E-5	0.002
18	34401098	A	C	18	36821135	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58927937202005E-5	0.002
18	34401098	A	G	18	36821135	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58927937202005E-5	0.002
18	34401098	A	T	18	36821135	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58927937202005E-5	0.002
18	34401099	A	C	18	36821136	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.81456590373184E-4	0.096
18	34401099	A	G	18	36821136	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.81456590373184E-4	0.096
18	34401099	A	T	18	36821136	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.60081151915995E-4	0.012
18	34401100	A	C	18	36821137	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.81456590373184E-4	0.098
18	34401100	A	G	18	36821137	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.81456590373184E-4	0.096
18	34401100	A	T	18	36821137	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.60081151915995E-4	0.012
18	34401101	T	A	18	36821138	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.57607375837078E-5	0.006
18	34401101	T	C	18	36821138	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.92786444512075E-5	0.004
18	34401101	T	G	18	36821138	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.92786444512075E-5	0.004
18	34401102	A	C	18	36821139	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.60081151915995E-4	0.008
18	34401102	A	G	18	36821139	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.60081151915995E-4	0.008
18	34401102	A	T	18	36821139	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.60081151915995E-4	0.014
18	34401103	T	A	18	36821140	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.71486889510802E-5	0.004
18	34401103	T	C	18	36821140	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58927937202005E-5	0.002
18	34401103	T	G	18	36821140	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.58927937202005E-5	0.002
18	34401104	T	A	18	36821141	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.78205327723092E-5	0.004
18	34401104	T	C	18	36821141	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.31929338280547E-5	0.0
18	34401104	T	G	18	36821141	n	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.31929338280547E-5	0.0
18	34403758	G	A	18	36823795	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.31929338280547E-5	0.004
18	34403758	G	C	18	36823795	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.07620641825897E-5	0.002
18	34403758	G	T	18	36823795	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.31929338280547E-5	0.002
18	34403759	G	A	18	36823796	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.91564032431422E-5	0.0
18	34403759	G	C	18	36823796	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.67535614375061E-5	0.0
18	34403759	G	T	18	36823796	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.91564032431422E-5	0.0
18	34403760	G	A	18	36823797	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.60033534916118E-4	0.002
18	34403760	G	C	18	36823797	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.46039206459424E-4	0.002
18	34403760	G	T	18	36823797	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.46039206459424E-4	0.002
18	34403761	C	A	18	36823798	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.28290728823224E-4	0.002
18	34403761	C	G	18	36823798	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.28290728823224E-4	0.002
18	34403761	C	T	18	36823798	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.5210596949361E-4	0.004
18	34403762	C	A	18	36823799	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.74046797087874E-5	0.0
18	34403762	C	G	18	36823799	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	5.21678172850114E-5	0.0
18	34403762	C	T	18	36823799	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.74046797087874E-5	0.0
18	34403763	T	A	18	36823800	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.90792379341904E-5	0.0
18	34403763	T	C	18	36823800	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.18429645671592E-5	0.0
18	34403763	T	G	18	36823800	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.18429645671592E-5	0.0
18	34403764	A	C	18	36823801	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.154+2T>G;ENST00000590692:exon3:c.154+2T>G)	.	.	0.00145598400866353	0.034
18	34403764	A	G	18	36823801	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.154+2T>C;ENST00000590692:exon3:c.154+2T>C)	.	.	0.00145598400866353	0.016
18	34403764	A	T	18	36823801	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.154+2T>A;ENST00000590692:exon3:c.154+2T>A)	.	.	0.00145598400866353	0.016
18	34403765	C	A	18	36823802	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.154+1G>T;ENST00000590692:exon3:c.154+1G>T)	.	.	9.51251131484881E-5	0.0
18	34403765	C	G	18	36823802	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.154+1G>C;ENST00000590692:exon3:c.154+1G>C)	.	.	1.04496257018506E-4	0.006
18	34403765	C	T	18	36823802	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.154+1G>A;ENST00000590692:exon3:c.154+1G>A)	.	.	7.3510010414419E-5	0.0
18	34403766	C	A	18	36823803	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00106416900301642	0.0
18	34403766	C	G	18	36823803	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00122913998718321	0.0
18	34403766	C	T	18	36823803	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00127265193793032	0.0
18	34403767	T	A	18	36823804	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00122801865539616	0.012
18	34403767	T	C	18	36823804	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00123738203438252	0.01
18	34403767	T	G	18	36823804	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	0.00123738203438252	0.01
18	34403768	G	A	18	36823805	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	1.21662807230942E-4	0.006
18	34403768	G	C	18	36823805	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	1.34502669094326E-4	0.0
18	34403768	G	T	18	36823805	y	y	UTR5	TPGS2	.	.	UTR3	ENSG00000134779	.	.	1.34502669094326E-4	0.0
18	34403833	T	A	18	36823870	y	y	UTR5	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590692:exon2:c.A87T:p.G29G;ENSG00000134779:ENST00000591823:exon2:c.A87T:p.G29G;	5.5529151830241E-5	0.0
18	34403833	T	C	18	36823870	y	y	UTR5	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590692:exon2:c.A87G:p.G29G;ENSG00000134779:ENST00000591823:exon2:c.A87G:p.G29G;	7.42544334184685E-5	0.008
18	34403833	T	G	18	36823870	y	y	UTR5	TPGS2	.	.	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590692:exon2:c.A87C:p.G29G;ENSG00000134779:ENST00000591823:exon2:c.A87C:p.G29G;	7.42544334184685E-5	0.008
18	34403834	C	A	18	36823871	y	y	UTR5	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590692:exon2:c.G86T:p.G29V;ENSG00000134779:ENST00000591823:exon2:c.G86T:p.G29V;	1.32626888200385E-4	0.012
18	34403834	C	G	18	36823871	y	y	UTR5	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590692:exon2:c.G86C:p.G29A;ENSG00000134779:ENST00000591823:exon2:c.G86C:p.G29A;	1.77346097862455E-4	0.178
18	34403834	C	T	18	36823871	y	y	UTR5	TPGS2	.	.	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590692:exon2:c.G86A:p.G29E;ENSG00000134779:ENST00000591823:exon2:c.G86A:p.G29E;	1.32626888200385E-4	0.006
18	34403835	C	A	18	36823872	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.86-1G>T;ENST00000590692:exon3:c.86-1G>T)	.	.	2.74891647094722E-5	0.006
18	34403835	C	G	18	36823872	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.86-1G>C;ENST00000590692:exon3:c.86-1G>C)	.	.	2.41256482875619E-5	0.004
18	34403835	C	T	18	36823872	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.86-1G>A;ENST00000590692:exon3:c.86-1G>A)	.	.	2.74891647094722E-5	0.006
18	34403836	T	A	18	36823873	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.86-2A>T;ENST00000590692:exon3:c.86-2A>T)	.	.	4.32880881212684E-4	0.022
18	34403836	T	C	18	36823873	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.86-2A>G;ENST00000590692:exon3:c.86-2A>G)	.	.	2.38206837572038E-4	0.028
18	34403836	T	G	18	36823873	y	y	splicing	TPGS2	.	.	splicing	ENSG00000134779(ENST00000591823:exon3:c.86-2A>C;ENST00000590692:exon3:c.86-2A>C)	.	.	2.38206837572038E-4	0.028
18	34403837	G	A	18	36823874	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.32626888200385E-4	0.034
18	34403837	G	C	18	36823874	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.77346097862455E-4	0.076
18	34403837	G	T	18	36823874	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.77346097862455E-4	0.112
18	34403838	T	A	18	36823875	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.78864525412067E-5	0.0
18	34403838	T	C	18	36823875	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.78864525412067E-5	0.0
18	34403838	T	G	18	36823875	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.78864525412067E-5	0.0
18	34403839	G	A	18	36823876	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.77346097862455E-4	0.104
18	34403839	G	C	18	36823876	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.77346097862455E-4	0.048
18	34403839	G	T	18	36823876	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.77346097862455E-4	0.074
18	34403840	G	A	18	36823877	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.78864525412067E-5	0.004
18	34403840	G	C	18	36823877	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.45277156108894E-5	0.0
18	34403840	G	T	18	36823877	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.45277156108894E-5	0.0
18	34403841	A	C	18	36823878	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.11203329754734E-5	0.002
18	34403841	A	G	18	36823878	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.11203329754734E-5	0.002
18	34403841	A	T	18	36823878	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	9.14505838604605E-5	0.006
18	34403842	T	A	18	36823879	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.32880881212684E-4	0.038
18	34403842	T	C	18	36823879	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.38206837572038E-4	0.046
18	34403842	T	G	18	36823879	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.38206837572038E-4	0.042
18	34403843	T	A	18	36823880	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.32880881212684E-4	0.038
18	34403843	T	C	18	36823880	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.38206837572038E-4	0.044
18	34403843	T	G	18	36823880	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.38206837572038E-4	0.044
18	34403844	A	C	18	36823881	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.38206837572038E-4	0.044
18	34403844	A	G	18	36823881	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	2.38206837572038E-4	0.044
18	34403844	A	T	18	36823881	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.32880881212684E-4	0.038
18	34403845	G	A	18	36823882	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.32626888200385E-4	0.006
18	34403845	G	C	18	36823882	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.77346097862455E-4	0.114
18	34403845	G	T	18	36823882	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	1.32626888200385E-4	0.034
18	34403846	A	C	18	36823883	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	4.0705089666633E-5	0.006
18	34403846	A	G	18	36823883	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.57245582126943E-5	0.006
18	34403846	A	T	18	36823883	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.42544334184685E-5	0.006
18	34408638	T	A	18	36828675	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.1140245746842E-5	0.0
18	34408638	T	C	18	36828675	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.39826558468951E-5	0.002
18	34408638	T	G	18	36828675	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	7.1140245746842E-5	0.0
18	34408639	T	A	18	36828676	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	3.18316931150619E-4	0.018
18	34408639	T	C	18	36828676	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.31420303614546E-5	0.0
18	34408639	T	G	18	36828676	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	6.31420303614546E-5	0.0
18	34408640	C	A	18	36828677	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.65141747463852E-5	0.0
18	34408640	C	G	18	36828677	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.65141747463852E-5	0.002
18	34408640	C	T	18	36828677	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	8.65141747463852E-5	0.0
18	34408641	C	A	18	36828678	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.990585507538861	0.846
18	34408641	C	G	18	36828678	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.996928680961826	0.79
18	34408641	C	T	18	36828678	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.998669812618378	0.912
18	34408642	T	A	18	36828679	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.99782150970832	0.644
18	34408642	T	C	18	36828679	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.992875688926812	0.696
18	34408642	T	G	18	36828679	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.986368965574788	0.69
18	34408643	C	A	18	36828680	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.944817151707813	0.592
18	34408643	C	G	18	36828680	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.972739915208239	0.644
18	34408643	C	T	18	36828680	y	y	intronic	TPGS2	.	.	intronic	ENSG00000134779	.	.	0.00102830873679339	0.008
18	34408644	A	C	18	36828681	y	y	splicing	TPGS2(NM_001271956:exon2:c.85+2T>G;NM_001271955:exon2:c.85+2T>G;NM_001271951:exon2:c.85+2T>G;NM_001271953:exon2:c.85+2T>G;NM_015476:exon2:c.85+2T>G;NM_001271949:exon2:c.85+2T>G;NM_001271950:exon2:c.85+2T>G;NM_001271954:exon2:c.85+2T>G)	.	.	splicing	ENSG00000134779(ENST00000587129:exon2:c.85+2T>G;ENST00000590842:exon2:c.85+2T>G;ENST00000587382:exon2:c.48+2T>G;ENST00000334295:exon2:c.85+2T>G;ENST00000383056:exon2:c.85+2T>G;ENST00000593035:exon2:c.85+2T>G;ENST00000589049:exon2:c.85+2T>G;ENST00000591823:exon2:c.85+2T>G;ENST00000585635:exon2:c.85+2T>G;ENST00000590692:exon2:c.85+2T>G;ENST00000590337:exon2:c.85+2T>G;ENST00000587207:exon2:c.85+2T>G;ENST00000588909:exon2:c.85+2T>G)	.	.	0.999949833242292	0.9
18	34408644	A	G	18	36828681	y	y	splicing	TPGS2(NM_001271956:exon2:c.85+2T>C;NM_001271955:exon2:c.85+2T>C;NM_001271951:exon2:c.85+2T>C;NM_001271953:exon2:c.85+2T>C;NM_015476:exon2:c.85+2T>C;NM_001271949:exon2:c.85+2T>C;NM_001271950:exon2:c.85+2T>C;NM_001271954:exon2:c.85+2T>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon2:c.85+2T>C;ENST00000590842:exon2:c.85+2T>C;ENST00000587382:exon2:c.48+2T>C;ENST00000334295:exon2:c.85+2T>C;ENST00000383056:exon2:c.85+2T>C;ENST00000593035:exon2:c.85+2T>C;ENST00000589049:exon2:c.85+2T>C;ENST00000591823:exon2:c.85+2T>C;ENST00000585635:exon2:c.85+2T>C;ENST00000590692:exon2:c.85+2T>C;ENST00000590337:exon2:c.85+2T>C;ENST00000587207:exon2:c.85+2T>C;ENST00000588909:exon2:c.85+2T>C)	.	.	0.999881206287363	0.884
18	34408644	A	T	18	36828681	y	y	splicing	TPGS2(NM_001271956:exon2:c.85+2T>A;NM_001271955:exon2:c.85+2T>A;NM_001271951:exon2:c.85+2T>A;NM_001271953:exon2:c.85+2T>A;NM_015476:exon2:c.85+2T>A;NM_001271949:exon2:c.85+2T>A;NM_001271950:exon2:c.85+2T>A;NM_001271954:exon2:c.85+2T>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon2:c.85+2T>A;ENST00000590842:exon2:c.85+2T>A;ENST00000587382:exon2:c.48+2T>A;ENST00000334295:exon2:c.85+2T>A;ENST00000383056:exon2:c.85+2T>A;ENST00000593035:exon2:c.85+2T>A;ENST00000589049:exon2:c.85+2T>A;ENST00000591823:exon2:c.85+2T>A;ENST00000585635:exon2:c.85+2T>A;ENST00000590692:exon2:c.85+2T>A;ENST00000590337:exon2:c.85+2T>A;ENST00000587207:exon2:c.85+2T>A;ENST00000588909:exon2:c.85+2T>A)	.	.	0.999949833242292	0.902
18	34408645	C	A	18	36828682	y	y	splicing	TPGS2(NM_001271956:exon2:c.85+1G>T;NM_001271955:exon2:c.85+1G>T;NM_001271951:exon2:c.85+1G>T;NM_001271953:exon2:c.85+1G>T;NM_015476:exon2:c.85+1G>T;NM_001271949:exon2:c.85+1G>T;NM_001271950:exon2:c.85+1G>T;NM_001271954:exon2:c.85+1G>T)	.	.	splicing	ENSG00000134779(ENST00000587129:exon2:c.85+1G>T;ENST00000590842:exon2:c.85+1G>T;ENST00000587382:exon2:c.48+1G>T;ENST00000334295:exon2:c.85+1G>T;ENST00000383056:exon2:c.85+1G>T;ENST00000593035:exon2:c.85+1G>T;ENST00000589049:exon2:c.85+1G>T;ENST00000591823:exon2:c.85+1G>T;ENST00000585635:exon2:c.85+1G>T;ENST00000590692:exon2:c.85+1G>T;ENST00000590337:exon2:c.85+1G>T;ENST00000587207:exon2:c.85+1G>T;ENST00000588909:exon2:c.85+1G>T)	.	.	0.999939583170295	0.93
18	34408645	C	G	18	36828682	y	y	splicing	TPGS2(NM_001271956:exon2:c.85+1G>C;NM_001271955:exon2:c.85+1G>C;NM_001271951:exon2:c.85+1G>C;NM_001271953:exon2:c.85+1G>C;NM_015476:exon2:c.85+1G>C;NM_001271949:exon2:c.85+1G>C;NM_001271950:exon2:c.85+1G>C;NM_001271954:exon2:c.85+1G>C)	.	.	splicing	ENSG00000134779(ENST00000587129:exon2:c.85+1G>C;ENST00000590842:exon2:c.85+1G>C;ENST00000587382:exon2:c.48+1G>C;ENST00000334295:exon2:c.85+1G>C;ENST00000383056:exon2:c.85+1G>C;ENST00000593035:exon2:c.85+1G>C;ENST00000589049:exon2:c.85+1G>C;ENST00000591823:exon2:c.85+1G>C;ENST00000585635:exon2:c.85+1G>C;ENST00000590692:exon2:c.85+1G>C;ENST00000590337:exon2:c.85+1G>C;ENST00000587207:exon2:c.85+1G>C;ENST00000588909:exon2:c.85+1G>C)	.	.	0.999939583170295	0.932
18	34408645	C	T	18	36828682	y	y	splicing	TPGS2(NM_001271956:exon2:c.85+1G>A;NM_001271955:exon2:c.85+1G>A;NM_001271951:exon2:c.85+1G>A;NM_001271953:exon2:c.85+1G>A;NM_015476:exon2:c.85+1G>A;NM_001271949:exon2:c.85+1G>A;NM_001271950:exon2:c.85+1G>A;NM_001271954:exon2:c.85+1G>A)	.	.	splicing	ENSG00000134779(ENST00000587129:exon2:c.85+1G>A;ENST00000590842:exon2:c.85+1G>A;ENST00000587382:exon2:c.48+1G>A;ENST00000334295:exon2:c.85+1G>A;ENST00000383056:exon2:c.85+1G>A;ENST00000593035:exon2:c.85+1G>A;ENST00000589049:exon2:c.85+1G>A;ENST00000591823:exon2:c.85+1G>A;ENST00000585635:exon2:c.85+1G>A;ENST00000590692:exon2:c.85+1G>A;ENST00000590337:exon2:c.85+1G>A;ENST00000587207:exon2:c.85+1G>A;ENST00000588909:exon2:c.85+1G>A)	.	.	0.999939583170295	0.936
18	34408646	C	A	18	36828683	y	y	exonic	TPGS2	stopgain SNV	TPGS2:NM_001271954:exon1:c.G85T:p.E29X;TPGS2:NM_001271953:exon1:c.G85T:p.E29X;TPGS2:NM_001271955:exon1:c.G85T:p.E29X;TPGS2:NM_001271950:exon1:c.G85T:p.E29X;TPGS2:NM_001271956:exon1:c.G85T:p.E29X;TPGS2:NM_001271951:exon1:c.G85T:p.E29X;TPGS2:NM_001271949:exon1:c.G85T:p.E29X;TPGS2:NM_015476:exon1:c.G85T:p.E29X;	exonic	ENSG00000134779	stopgain SNV	ENSG00000134779:ENST00000590842:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000589049:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000587207:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000383056:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000587129:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000593035:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000590337:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000334295:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000588909:exon1:c.G85T:p.E29X;ENSG00000134779:ENST00000590692:exon1:c.G85T:p.G29X;ENSG00000134779:ENST00000591823:exon1:c.G85T:p.G29X;	0.999985729855272	0.972
18	34408646	C	G	18	36828683	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon1:c.G85C:p.E29Q;TPGS2:NM_001271953:exon1:c.G85C:p.E29Q;TPGS2:NM_001271955:exon1:c.G85C:p.E29Q;TPGS2:NM_001271950:exon1:c.G85C:p.E29Q;TPGS2:NM_001271956:exon1:c.G85C:p.E29Q;TPGS2:NM_001271951:exon1:c.G85C:p.E29Q;TPGS2:NM_001271949:exon1:c.G85C:p.E29Q;TPGS2:NM_015476:exon1:c.G85C:p.E29Q;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000589049:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000587207:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000383056:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000587129:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000585635:exon1:c.G85C:p.G29R;ENSG00000134779:ENST00000593035:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000590337:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000334295:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000588909:exon1:c.G85C:p.E29Q;ENSG00000134779:ENST00000590692:exon1:c.G85C:p.G29R;ENSG00000134779:ENST00000591823:exon1:c.G85C:p.G29R;	0.999993064503812	0.996
18	34408646	C	T	18	36828683	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon1:c.G85A:p.E29K;TPGS2:NM_001271953:exon1:c.G85A:p.E29K;TPGS2:NM_001271955:exon1:c.G85A:p.E29K;TPGS2:NM_001271950:exon1:c.G85A:p.E29K;TPGS2:NM_001271956:exon1:c.G85A:p.E29K;TPGS2:NM_001271951:exon1:c.G85A:p.E29K;TPGS2:NM_001271949:exon1:c.G85A:p.E29K;TPGS2:NM_015476:exon1:c.G85A:p.E29K;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000589049:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000587207:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000383056:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000587129:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000585635:exon1:c.G85A:p.G29R;ENSG00000134779:ENST00000593035:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000590337:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000334295:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000588909:exon1:c.G85A:p.E29K;ENSG00000134779:ENST00000590692:exon1:c.G85A:p.G29R;ENSG00000134779:ENST00000591823:exon1:c.G85A:p.G29R;	0.999980256176351	0.996
18	34408647	T	A	18	36828684	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon1:c.A84T:p.L28L;TPGS2:NM_001271953:exon1:c.A84T:p.L28L;TPGS2:NM_001271955:exon1:c.A84T:p.L28L;TPGS2:NM_001271950:exon1:c.A84T:p.L28L;TPGS2:NM_001271956:exon1:c.A84T:p.L28L;TPGS2:NM_001271951:exon1:c.A84T:p.L28L;TPGS2:NM_001271949:exon1:c.A84T:p.L28L;TPGS2:NM_015476:exon1:c.A84T:p.L28L;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000589049:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000587207:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000383056:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000587129:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000585635:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000593035:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000590337:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000334295:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000588909:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000590692:exon1:c.A84T:p.L28L;ENSG00000134779:ENST00000591823:exon1:c.A84T:p.L28L;	0.190535703862343	0.538
18	34408647	T	C	18	36828684	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon1:c.A84G:p.L28L;TPGS2:NM_001271953:exon1:c.A84G:p.L28L;TPGS2:NM_001271955:exon1:c.A84G:p.L28L;TPGS2:NM_001271950:exon1:c.A84G:p.L28L;TPGS2:NM_001271956:exon1:c.A84G:p.L28L;TPGS2:NM_001271951:exon1:c.A84G:p.L28L;TPGS2:NM_001271949:exon1:c.A84G:p.L28L;TPGS2:NM_015476:exon1:c.A84G:p.L28L;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000589049:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000587207:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000383056:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000587129:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000585635:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000593035:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000590337:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000334295:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000588909:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000590692:exon1:c.A84G:p.L28L;ENSG00000134779:ENST00000591823:exon1:c.A84G:p.L28L;	0.31561862319842	0.454
18	34408647	T	G	18	36828684	y	y	exonic	TPGS2	synonymous SNV	TPGS2:NM_001271954:exon1:c.A84C:p.L28L;TPGS2:NM_001271953:exon1:c.A84C:p.L28L;TPGS2:NM_001271955:exon1:c.A84C:p.L28L;TPGS2:NM_001271950:exon1:c.A84C:p.L28L;TPGS2:NM_001271956:exon1:c.A84C:p.L28L;TPGS2:NM_001271951:exon1:c.A84C:p.L28L;TPGS2:NM_001271949:exon1:c.A84C:p.L28L;TPGS2:NM_015476:exon1:c.A84C:p.L28L;	exonic	ENSG00000134779	synonymous SNV	ENSG00000134779:ENST00000590842:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000589049:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000587207:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000383056:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000587129:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000585635:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000593035:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000590337:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000334295:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000588909:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000590692:exon1:c.A84C:p.L28L;ENSG00000134779:ENST00000591823:exon1:c.A84C:p.L28L;	0.0766743559913752	0.606
18	34408648	A	C	18	36828685	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon1:c.T83G:p.L28R;TPGS2:NM_001271953:exon1:c.T83G:p.L28R;TPGS2:NM_001271955:exon1:c.T83G:p.L28R;TPGS2:NM_001271950:exon1:c.T83G:p.L28R;TPGS2:NM_001271956:exon1:c.T83G:p.L28R;TPGS2:NM_001271951:exon1:c.T83G:p.L28R;TPGS2:NM_001271949:exon1:c.T83G:p.L28R;TPGS2:NM_015476:exon1:c.T83G:p.L28R;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000589049:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000587207:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000383056:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000587129:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000585635:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000593035:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000590337:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000334295:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000588909:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000590692:exon1:c.T83G:p.L28R;ENSG00000134779:ENST00000591823:exon1:c.T83G:p.L28R;	0.475368100248012	0.756
18	34408648	A	G	18	36828685	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon1:c.T83C:p.L28P;TPGS2:NM_001271953:exon1:c.T83C:p.L28P;TPGS2:NM_001271955:exon1:c.T83C:p.L28P;TPGS2:NM_001271950:exon1:c.T83C:p.L28P;TPGS2:NM_001271956:exon1:c.T83C:p.L28P;TPGS2:NM_001271951:exon1:c.T83C:p.L28P;TPGS2:NM_001271949:exon1:c.T83C:p.L28P;TPGS2:NM_015476:exon1:c.T83C:p.L28P;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000589049:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000587207:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000383056:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000587129:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000585635:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000593035:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000590337:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000334295:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000588909:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000590692:exon1:c.T83C:p.L28P;ENSG00000134779:ENST00000591823:exon1:c.T83C:p.L28P;	0.53786650683937	0.676
18	34408648	A	T	18	36828685	y	y	exonic	TPGS2	nonsynonymous SNV	TPGS2:NM_001271954:exon1:c.T83A:p.L28Q;TPGS2:NM_001271953:exon1:c.T83A:p.L28Q;TPGS2:NM_001271955:exon1:c.T83A:p.L28Q;TPGS2:NM_001271950:exon1:c.T83A:p.L28Q;TPGS2:NM_001271956:exon1:c.T83A:p.L28Q;TPGS2:NM_001271951:exon1:c.T83A:p.L28Q;TPGS2:NM_001271949:exon1:c.T83A:p.L28Q;TPGS2:NM_015476:exon1:c.T83A:p.L28Q;	exonic	ENSG00000134779	nonsynonymous SNV	ENSG00000134779:ENST00000590842:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000589049:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000587207:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000383056:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000587129:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000585635:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000593035:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000590337:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000334295:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000588909:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000590692:exon1:c.T83A:p.L28Q;ENSG00000134779:ENST00000591823:exon1:c.T83A:p.L28Q;	0.495662863338244	0.728
18	34409157	A	C	18	36829194	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon1:c.A56C:p.D19A;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.A56C:p.D19A;ENSG00000150477:ENST00000280020:exon1:c.A56C:p.D19A;ENSG00000150477:ENST00000592521:exon1:c.A56C:p.D19A;ENSG00000150477:ENST00000592611:exon1:c.A56C:p.D19A;	0.444148112233447	0.742
18	34409157	A	G	18	36829194	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon1:c.A56G:p.D19G;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.A56G:p.D19G;ENSG00000150477:ENST00000280020:exon1:c.A56G:p.D19G;ENSG00000150477:ENST00000592521:exon1:c.A56G:p.D19G;ENSG00000150477:ENST00000592611:exon1:c.A56G:p.D19G;	0.432783678351741	0.752
18	34409157	A	T	18	36829194	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon1:c.A56T:p.D19V;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.A56T:p.D19V;ENSG00000150477:ENST00000280020:exon1:c.A56T:p.D19V;ENSG00000150477:ENST00000592521:exon1:c.A56T:p.D19V;ENSG00000150477:ENST00000592611:exon1:c.A56T:p.D19V;	0.970175920526533	0.74
18	34409158	C	A	18	36829195	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon1:c.C57A:p.D19E;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.C57A:p.D19E;ENSG00000150477:ENST00000280020:exon1:c.C57A:p.D19E;ENSG00000150477:ENST00000592521:exon1:c.C57A:p.D19E;ENSG00000150477:ENST00000592611:exon1:c.C57A:p.D19E;	0.0777481267450361	0.28
18	34409158	C	G	18	36829195	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon1:c.C57G:p.D19E;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.C57G:p.D19E;ENSG00000150477:ENST00000280020:exon1:c.C57G:p.D19E;ENSG00000150477:ENST00000592521:exon1:c.C57G:p.D19E;ENSG00000150477:ENST00000592611:exon1:c.C57G:p.D19E;	0.300611395221152	0.282
18	34409158	C	T	18	36829195	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon1:c.C57T:p.D19D;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.C57T:p.D19D;ENSG00000150477:ENST00000280020:exon1:c.C57T:p.D19D;ENSG00000150477:ENST00000592521:exon1:c.C57T:p.D19D;ENSG00000150477:ENST00000592611:exon1:c.C57T:p.D19D;	0.170042547229914	0.234
18	34409159	T	A	18	36829196	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon1:c.T58A:p.F20I;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.T58A:p.F20I;ENSG00000150477:ENST00000280020:exon1:c.T58A:p.F20I;ENSG00000150477:ENST00000592521:exon1:c.T58A:p.F20I;ENSG00000150477:ENST00000592611:exon1:c.T58A:p.F20I;	9.84657590839606E-5	0.136
18	34409159	T	C	18	36829196	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon1:c.T58C:p.F20L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.T58C:p.F20L;ENSG00000150477:ENST00000280020:exon1:c.T58C:p.F20L;ENSG00000150477:ENST00000592521:exon1:c.T58C:p.F20L;ENSG00000150477:ENST00000592611:exon1:c.T58C:p.F20L;	1.29688124799719E-4	0.138
18	34409159	T	G	18	36829196	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon1:c.T58G:p.F20V;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon1:c.T58G:p.F20V;ENSG00000150477:ENST00000280020:exon1:c.T58G:p.F20V;ENSG00000150477:ENST00000592521:exon1:c.T58G:p.F20V;ENSG00000150477:ENST00000592611:exon1:c.T58G:p.F20V;	1.86760071979312E-4	0.0
18	34409160	G	A	18	36829197	y	y	splicing	KIAA1328(NM_020776:exon1:c.58+1G>A)	.	.	splicing	ENSG00000150477(ENST00000592611:exon1:c.58+1G>A;ENST00000280020:exon1:c.58+1G>A;ENST00000592521:exon1:c.58+1G>A;ENST00000590617:exon1:c.58+1G>A)	.	.	0.999903077059435	0.882
18	34409160	G	C	18	36829197	y	y	splicing	KIAA1328(NM_020776:exon1:c.58+1G>C)	.	.	splicing	ENSG00000150477(ENST00000592611:exon1:c.58+1G>C;ENST00000280020:exon1:c.58+1G>C;ENST00000592521:exon1:c.58+1G>C;ENST00000590617:exon1:c.58+1G>C)	.	.	0.999924984442644	0.882
18	34409160	G	T	18	36829197	y	y	splicing	KIAA1328(NM_020776:exon1:c.58+1G>T)	.	.	splicing	ENSG00000150477(ENST00000592611:exon1:c.58+1G>T;ENST00000280020:exon1:c.58+1G>T;ENST00000592521:exon1:c.58+1G>T;ENST00000590617:exon1:c.58+1G>T)	.	.	0.999903077059435	0.882
18	34409161	T	A	18	36829198	y	y	splicing	KIAA1328(NM_020776:exon1:c.58+2T>A)	.	.	splicing	ENSG00000150477(ENST00000592611:exon1:c.58+2T>A;ENST00000280020:exon1:c.58+2T>A;ENST00000592521:exon1:c.58+2T>A;ENST00000590617:exon1:c.58+2T>A)	.	.	0.999910698173939	0.752
18	34409161	T	C	18	36829198	y	y	splicing	KIAA1328(NM_020776:exon1:c.58+2T>C)	.	.	splicing	ENSG00000150477(ENST00000592611:exon1:c.58+2T>C;ENST00000280020:exon1:c.58+2T>C;ENST00000592521:exon1:c.58+2T>C;ENST00000590617:exon1:c.58+2T>C)	.	.	0.998939865806683	0.744
18	34409161	T	G	18	36829198	y	y	splicing	KIAA1328(NM_020776:exon1:c.58+2T>G)	.	.	splicing	ENSG00000150477(ENST00000592611:exon1:c.58+2T>G;ENST00000280020:exon1:c.58+2T>G;ENST00000592521:exon1:c.58+2T>G;ENST00000590617:exon1:c.58+2T>G)	.	.	0.999910698173939	0.746
18	34409162	A	C	18	36829199	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.999947929911473	0.674
18	34409162	A	G	18	36829199	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.998637708506778	0.674
18	34409162	A	T	18	36829199	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.999917298565454	0.676
18	34409163	T	A	18	36829200	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.387879022082053	0.676
18	34409163	T	C	18	36829200	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.867128678463258	0.674
18	34409163	T	G	18	36829200	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.411385709266798	0.674
18	34409164	C	A	18	36829201	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.953329615979909	0.8
18	34409164	C	G	18	36829201	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.953329615979909	0.8
18	34409164	C	T	18	36829201	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.953329615979909	0.794
18	34409165	C	A	18	36829202	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.953329615979909	0.8
18	34409165	C	G	18	36829202	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.953329615979909	0.8
18	34409165	C	T	18	36829202	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.953329615979909	0.8
18	34409166	T	A	18	36829203	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.429968517322425	0.674
18	34409166	T	C	18	36829203	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.686281063254859	0.672
18	34409166	T	G	18	36829203	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.430700387415347	0.672
18	34409167	T	A	18	36829204	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.722310653863284	0.674
18	34409167	T	C	18	36829204	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.722909069298496	0.672
18	34409167	T	G	18	36829204	y	y	UTR5	TPGS2	.	.	intronic	ENSG00000150477	.	.	0.716854166751448	0.672
18	34409400	C	A	18	36829437	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	7.32585466694838E-5	0.004
18	34409400	C	G	18	36829437	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	6.29590443248427E-5	0.0
18	34409400	C	T	18	36829437	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	1.09080089480832E-4	0.002
18	34409401	C	A	18	36829438	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	1.50314638629101E-4	0.004
18	34409401	C	G	18	36829438	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	9.18154359770555E-5	0.002
18	34409401	C	T	18	36829438	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	1.50314638629101E-4	0.002
18	34409402	G	A	18	36829439	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	1.7512653808756E-4	0.0
18	34409402	G	C	18	36829439	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	1.7512653808756E-4	0.0
18	34409402	G	T	18	36829439	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	unknown	UNKNOWN	1.7512653808756E-4	0.0
18	34409403	G	A	18	36829440	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000587139:exon1:c.200+1G>A)	.	.	2.20119793907772E-4	0.008
18	34409403	G	C	18	36829440	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000587139:exon1:c.200+1G>C)	.	.	2.22433326491637E-4	0.012
18	34409403	G	T	18	36829440	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000587139:exon1:c.200+1G>T)	.	.	2.22433326491637E-4	0.006
18	34409404	T	A	18	36829441	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000587139:exon1:c.200+2T>A)	.	.	2.30593261359202E-4	0.012
18	34409404	T	C	18	36829441	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000587139:exon1:c.200+2T>C)	.	.	2.33016847929483E-4	0.006
18	34409404	T	G	18	36829441	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000587139:exon1:c.200+2T>G)	.	.	2.33016847929483E-4	0.012
18	34409405	G	A	18	36829442	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.00909545392858E-4	0.008
18	34409405	G	C	18	36829442	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.72458165011911E-4	0.008
18	34409405	G	T	18	36829442	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.00909545392858E-4	0.008
18	34409406	A	C	18	36829443	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.33016847929483E-4	0.002
18	34409406	A	G	18	36829443	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.33016847929483E-4	0.004
18	34409406	A	T	18	36829443	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.30593261359202E-4	0.0
18	34409407	G	A	18	36829444	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.3978033388106E-4	0.044
18	34409407	G	C	18	36829444	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.50063206688251E-4	0.016
18	34409407	G	T	18	36829444	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.75206199805845E-4	0.016
18	34409408	C	A	18	36829445	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.22433326491637E-4	0.024
18	34409408	C	G	18	36829445	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.22433326491637E-4	0.026
18	34409408	C	T	18	36829445	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.20119793907772E-4	0.024
18	34409409	T	A	18	36829446	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.83150145529524E-4	0.0
18	34409409	T	C	18	36829446	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.90483797901526E-4	0.0
18	34409409	T	G	18	36829446	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.90483797901526E-4	0.0
18	34409410	C	A	18	36829447	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.00909545392858E-4	0.012
18	34409410	C	G	18	36829447	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.00909545392858E-4	0.008
18	34409410	C	T	18	36829447	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.05798109844439E-4	0.006
18	34413349	A	C	18	36833386	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	3.31929338280547E-5	0.004
18	34413349	A	G	18	36833386	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	3.31929338280547E-5	0.004
18	34413349	A	T	18	36833386	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	3.78205327723092E-5	0.004
18	34413350	A	C	18	36833387	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.38206837572038E-4	0.046
18	34413350	A	G	18	36833387	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.38206837572038E-4	0.046
18	34413350	A	T	18	36833387	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	4.32880881212684E-4	0.048
18	34413351	G	A	18	36833388	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.41069364790736E-5	0.008
18	34413351	G	C	18	36833388	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.41069364790736E-5	0.008
18	34413351	G	T	18	36833388	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.41069364790736E-5	0.006
18	34413352	G	A	18	36833389	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	5.08291490468438E-5	0.006
18	34413352	G	C	18	36833389	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	1.1738525533333E-5	0.0
18	34413352	G	T	18	36833389	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	1.1738525533333E-5	0.004
18	34413353	T	A	18	36833390	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	5.15941453541388E-5	0.002
18	34413353	T	C	18	36833390	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	6.89925739660516E-5	0.006
18	34413353	T	G	18	36833390	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	6.89925739660516E-5	0.02
18	34413354	A	C	18	36833391	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.41863113010999E-4	0.036
18	34413354	A	G	18	36833391	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.41863113010999E-4	0.036
18	34413354	A	T	18	36833391	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.41863113010999E-4	0.036
18	34413355	G	A	18	36833392	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.46039206459424E-4	0.0
18	34413355	G	C	18	36833392	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.41036740142694E-4	0.002
18	34413355	G	T	18	36833392	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.46039206459424E-4	0.0
18	34413356	G	A	18	36833393	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.86764315709017E-5	0.0
18	34413356	G	C	18	36833393	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.39457982047225E-5	0.0
18	34413356	G	T	18	36833393	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.39457982047225E-5	0.0
18	34413357	A	C	18	36833394	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.33152596879021E-4	0.036
18	34413357	A	G	18	36833394	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.33152596879021E-4	0.036
18	34413357	A	T	18	36833394	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.3927970354688E-4	0.044
18	34413358	G	A	18	36833395	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.98902375906994E-5	0.0
18	34413358	G	C	18	36833395	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.98902375906994E-5	0.0
18	34413358	G	T	18	36833395	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.98902375906994E-5	0.0
18	34413359	C	A	18	36833396	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.53591935202096E-4	0.0
18	34413359	C	G	18	36833396	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.46039206459424E-4	0.0
18	34413359	C	T	18	36833396	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.28290728823224E-4	0.0
18	34414154	T	A	18	36834191	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.5594952957678E-4	0.002
18	34414154	T	C	18	36834191	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.5594952957678E-4	0.008
18	34414154	T	G	18	36834191	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.5594952957678E-4	0.006
18	34414155	G	A	18	36834192	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.88931617418123E-4	0.054
18	34414155	G	C	18	36834192	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.08634976526328E-4	0.012
18	34414155	G	T	18	36834192	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.88931617418123E-4	0.042
18	34414156	T	A	18	36834193	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.93882039422709E-4	0.16
18	34414156	T	C	18	36834193	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.93882039422709E-4	0.102
18	34414156	T	G	18	36834193	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.93882039422709E-4	0.114
18	34414157	T	A	18	36834194	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00115961040335629	0.196
18	34414157	T	C	18	36834194	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00115961040335629	0.188
18	34414157	T	G	18	36834194	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00115961040335629	0.19
18	34414158	T	A	18	36834195	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00115961040335629	0.234
18	34414158	T	C	18	36834195	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00115961040335629	0.21
18	34414158	T	G	18	36834195	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00115961040335629	0.218
18	34414159	T	A	18	36834196	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00106808934384104	0.178
18	34414159	T	C	18	36834196	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.22644943687048E-4	0.186
18	34414159	T	G	18	36834196	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.22644943687048E-4	0.186
18	34414160	T	A	18	36834197	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0311184125642934	0.214
18	34414160	T	C	18	36834197	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0311184125642934	0.194
18	34414160	T	G	18	36834197	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0311184125642934	0.196
18	34414161	A	C	18	36834198	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.82141051040259E-5	0.102
18	34414161	A	G	18	36834198	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.82141051040259E-5	0.102
18	34414161	A	T	18	36834198	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.20321002835924E-4	0.104
18	34414162	A	C	18	36834199	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.5401661750273E-4	0.178
18	34414162	A	G	18	36834199	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.5401661750273E-4	0.178
18	34414162	A	T	18	36834199	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.49191818712095E-4	0.17
18	34414163	A	C	18	36834200	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.63417940347592E-5	0.138
18	34414163	A	G	18	36834200	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.63417940347592E-5	0.14
18	34414163	A	T	18	36834200	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.63417940347592E-5	0.138
18	34414164	A	C	18	36834201	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0295730282704553	0.206
18	34414164	A	G	18	36834201	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0295730282704553	0.206
18	34414164	A	T	18	36834201	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0294874710157853	0.196
18	34414165	G	A	18	36834202	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	7.66824135672403E-5	0.096
18	34414165	G	C	18	36834202	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	6.44941683926652E-5	0.096
18	34414165	G	T	18	36834202	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	7.66824135672403E-5	0.098
18	34414166	T	A	18	36834203	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	9.38019895147061E-5	0.014
18	34414166	T	C	18	36834203	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.03701824287236E-4	0.014
18	34414166	T	G	18	36834203	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.03701824287236E-4	0.014
18	34414167	T	A	18	36834204	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.42903341227836E-4	0.144
18	34414167	T	C	18	36834204	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.42903341227836E-4	0.144
18	34414167	T	G	18	36834204	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.42903341227836E-4	0.144
18	34414271	T	A	18	36834308	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T35A:p.F12Y;	0.212211653058885	0.562
18	34414271	T	C	18	36834308	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T35C:p.F12S;	6.00960970018839E-4	0.102
18	34414271	T	G	18	36834308	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T35G:p.F12C;	0.0850620066705665	0.476
18	34414272	C	A	18	36834309	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C36A:p.F12L;	0.00236134064576687	0.144
18	34414272	C	G	18	36834309	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C36G:p.F12L;	0.0014009766281221	0.128
18	34414272	C	T	18	36834309	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C36T:p.F12F;	1.37340787931255E-5	0.0
18	34414273	T	A	18	36834310	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T37A:p.S13T;	0.802495179131503	0.724
18	34414273	T	C	18	36834310	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T37C:p.S13P;	0.00219386827955664	0.13
18	34414273	T	G	18	36834310	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T37G:p.S13A;	0.632635828811013	0.628
18	34414274	C	A	18	36834311	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C38A:p.S13Y;	0.0624319105205614	0.138
18	34414274	C	G	18	36834311	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C38G:p.S13C;	0.0139617612953617	0.124
18	34414274	C	T	18	36834311	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C38T:p.S13F;	8.24419452732178E-5	0.004
18	34414275	C	A	18	36834312	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C39A:p.S13S;	0.00271627797378485	0.104
18	34414275	C	G	18	36834312	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C39G:p.S13S;	0.00138519001840884	0.122
18	34414275	C	T	18	36834312	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C39T:p.S13S;	5.43454207565659E-5	0.0
18	34414276	T	A	18	36834313	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T40A:p.C14S;	0.999258941301593	0.978
18	34414276	T	C	18	36834313	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T40C:p.C14R;	4.250756309593E-4	0.01
18	34414276	T	G	18	36834313	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T40G:p.C14G;	0.0177428460591101	0.14
18	34414277	G	A	18	36834314	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G41A:p.C14Y;	1.78292110770982E-5	0.02
18	34414277	G	C	18	36834314	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G41C:p.C14S;	2.43684185863776E-5	0.012
18	34414277	G	T	18	36834314	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G41T:p.C14F;	3.2225638993658E-5	0.0
18	34414278	C	A	18	36834315	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000591619:exon2:c.C42A:p.C14X;	0.999844032641342	0.972
18	34414278	C	G	18	36834315	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C42G:p.C14W;	0.00165505387126338	0.046
18	34414278	C	T	18	36834315	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.C42T:p.C14C;	1.66945962024971E-4	0.0
18	34414279	G	A	18	36834316	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G43A:p.V15I;	6.89603866482564E-5	0.0
18	34414279	G	C	18	36834316	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G43C:p.V15L;	2.20686293800453E-5	0.0
18	34414279	G	T	18	36834316	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G43T:p.V15L;	3.63753754138853E-5	0.0
18	34414280	T	A	18	36834317	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T44A:p.V15E;	0.0126180959964606	0.354
18	34414280	T	C	18	36834317	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T44C:p.V15A;	1.1250997305057E-4	0.09
18	34414280	T	G	18	36834317	y	n	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.T44G:p.V15G;	0.986674137938548	0.724
18	34414281	A	C	18	36834318	y	n	splicing	KIAA1328(NM_020776:exon2:c.59-2A>C)	.	.	exonic;splicing	ENSG00000150477;ENSG00000150477(ENST00000592611:exon2:c.59-2A>C;ENST00000280020:exon2:c.59-2A>C;ENST00000592521:exon2:c.59-2A>C;ENST00000590617:exon2:c.59-2A>C)	synonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.A45C:p.V15V;	0.999988247793601	0.926
18	34414281	A	G	18	36834318	y	n	splicing	KIAA1328(NM_020776:exon2:c.59-2A>G)	.	.	exonic;splicing	ENSG00000150477;ENSG00000150477(ENST00000592611:exon2:c.59-2A>G;ENST00000280020:exon2:c.59-2A>G;ENST00000592521:exon2:c.59-2A>G;ENST00000590617:exon2:c.59-2A>G)	synonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.A45G:p.V15V;	0.999988247793601	0.926
18	34414281	A	T	18	36834318	y	n	splicing	KIAA1328(NM_020776:exon2:c.59-2A>T)	.	.	exonic;splicing	ENSG00000150477;ENSG00000150477(ENST00000592611:exon2:c.59-2A>T;ENST00000280020:exon2:c.59-2A>T;ENST00000592521:exon2:c.59-2A>T;ENST00000590617:exon2:c.59-2A>T)	synonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.A45T:p.V15V;	0.999988247793601	0.926
18	34414282	G	A	18	36834319	y	n	splicing	KIAA1328(NM_020776:exon2:c.59-1G>A)	.	.	exonic;splicing	ENSG00000150477;ENSG00000150477(ENST00000592611:exon2:c.59-1G>A;ENST00000280020:exon2:c.59-1G>A;ENST00000592521:exon2:c.59-1G>A;ENST00000590617:exon2:c.59-1G>A)	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G46A:p.V16I;	0.999986675681007	0.932
18	34414282	G	C	18	36834319	y	n	splicing	KIAA1328(NM_020776:exon2:c.59-1G>C)	.	.	exonic;splicing	ENSG00000150477;ENSG00000150477(ENST00000592611:exon2:c.59-1G>C;ENST00000280020:exon2:c.59-1G>C;ENST00000592521:exon2:c.59-1G>C;ENST00000590617:exon2:c.59-1G>C)	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G46C:p.V16L;	0.999986675681007	0.932
18	34414282	G	T	18	36834319	y	n	splicing	KIAA1328(NM_020776:exon2:c.59-1G>T)	.	.	exonic;splicing	ENSG00000150477;ENSG00000150477(ENST00000592611:exon2:c.59-1G>T;ENST00000280020:exon2:c.59-1G>T;ENST00000592521:exon2:c.59-1G>T;ENST00000590617:exon2:c.59-1G>T)	nonsynonymous SNV	ENSG00000150477:ENST00000591619:exon2:c.G46T:p.V16F;	0.999986675681007	0.932
18	34414283	T	A	18	36834320	y	n	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.T59A:p.F20Y;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.T59A:p.F20Y;ENSG00000150477:ENST00000280020:exon2:c.T59A:p.F20Y;ENSG00000150477:ENST00000592521:exon2:c.T59A:p.F20Y;ENSG00000150477:ENST00000592611:exon2:c.T59A:p.F20Y;ENSG00000150477:ENST00000591619:exon2:c.T47A:p.V16D;	0.0336159683378731	0.174
18	34414283	T	C	18	36834320	y	n	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.T59C:p.F20S;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.T59C:p.F20S;ENSG00000150477:ENST00000280020:exon2:c.T59C:p.F20S;ENSG00000150477:ENST00000592521:exon2:c.T59C:p.F20S;ENSG00000150477:ENST00000592611:exon2:c.T59C:p.F20S;ENSG00000150477:ENST00000591619:exon2:c.T47C:p.V16A;	0.00648387034999574	0.15
18	34414283	T	G	18	36834320	y	n	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.T59G:p.F20C;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.T59G:p.F20C;ENSG00000150477:ENST00000280020:exon2:c.T59G:p.F20C;ENSG00000150477:ENST00000592521:exon2:c.T59G:p.F20C;ENSG00000150477:ENST00000592611:exon2:c.T59G:p.F20C;ENSG00000150477:ENST00000591619:exon2:c.T47G:p.V16G;	0.0256690001523966	0.206
18	34414284	T	A	18	36834321	y	n	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.T60A:p.F20L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.T60A:p.F20L;ENSG00000150477:ENST00000280020:exon2:c.T60A:p.F20L;ENSG00000150477:ENST00000592521:exon2:c.T60A:p.F20L;ENSG00000150477:ENST00000592611:exon2:c.T60A:p.F20L;	0.497286955839302	0.318
18	34414284	T	C	18	36834321	y	n	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon2:c.T60C:p.F20F;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.T60C:p.F20F;ENSG00000150477:ENST00000280020:exon2:c.T60C:p.F20F;ENSG00000150477:ENST00000592521:exon2:c.T60C:p.F20F;ENSG00000150477:ENST00000592611:exon2:c.T60C:p.F20F;ENSG00000150477:ENST00000591619:exon2:c.T48C:p.V16V;	0.411996214972394	0.298
18	34414284	T	G	18	36834321	y	n	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.T60G:p.F20L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.T60G:p.F20L;ENSG00000150477:ENST00000280020:exon2:c.T60G:p.F20L;ENSG00000150477:ENST00000592521:exon2:c.T60G:p.F20L;ENSG00000150477:ENST00000592611:exon2:c.T60G:p.F20L;	0.306683425489757	0.26
18	34414316	C	A	18	36834353	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.C92A:p.P31Q;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.C92A:p.P31Q;ENSG00000150477:ENST00000280020:exon2:c.C92A:p.P31Q;ENSG00000150477:ENST00000592521:exon2:c.C92A:p.P31Q;ENSG00000150477:ENST00000592611:exon2:c.C92A:p.P31Q;ENSG00000150477:ENST00000591619:exon2:c.C80A:p.P27Q;	0.956504220037983	0.798
18	34414316	C	G	18	36834353	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.C92G:p.P31R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.C92G:p.P31R;ENSG00000150477:ENST00000280020:exon2:c.C92G:p.P31R;ENSG00000150477:ENST00000592521:exon2:c.C92G:p.P31R;ENSG00000150477:ENST00000592611:exon2:c.C92G:p.P31R;ENSG00000150477:ENST00000591619:exon2:c.C80G:p.P27R;	0.887781132903943	0.636
18	34414316	C	T	18	36834353	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.C92T:p.P31L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.C92T:p.P31L;ENSG00000150477:ENST00000280020:exon2:c.C92T:p.P31L;ENSG00000150477:ENST00000592521:exon2:c.C92T:p.P31L;ENSG00000150477:ENST00000592611:exon2:c.C92T:p.P31L;ENSG00000150477:ENST00000591619:exon2:c.C80T:p.P27L;	0.998140440771006	0.95
18	34414317	A	C	18	36834354	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon2:c.A93C:p.P31P;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.A93C:p.P31P;ENSG00000150477:ENST00000280020:exon2:c.A93C:p.P31P;ENSG00000150477:ENST00000592521:exon2:c.A93C:p.P31P;ENSG00000150477:ENST00000592611:exon2:c.A93C:p.P31P;ENSG00000150477:ENST00000591619:exon2:c.A81C:p.P27P;	0.998593391981764	0.952
18	34414317	A	G	18	36834354	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon2:c.A93G:p.P31P;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.A93G:p.P31P;ENSG00000150477:ENST00000280020:exon2:c.A93G:p.P31P;ENSG00000150477:ENST00000592521:exon2:c.A93G:p.P31P;ENSG00000150477:ENST00000592611:exon2:c.A93G:p.P31P;ENSG00000150477:ENST00000591619:exon2:c.A81G:p.P27P;	0.998255173755064	0.976
18	34414317	A	T	18	36834354	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon2:c.A93T:p.P31P;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.A93T:p.P31P;ENSG00000150477:ENST00000280020:exon2:c.A93T:p.P31P;ENSG00000150477:ENST00000592521:exon2:c.A93T:p.P31P;ENSG00000150477:ENST00000592611:exon2:c.A93T:p.P31P;ENSG00000150477:ENST00000591619:exon2:c.A81T:p.P27P;	0.999367297812104	0.936
18	34414318	G	A	18	36834355	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.G94A:p.G32R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.G94A:p.G32R;ENSG00000150477:ENST00000280020:exon2:c.G94A:p.G32R;ENSG00000150477:ENST00000592521:exon2:c.G94A:p.G32R;ENSG00000150477:ENST00000592611:exon2:c.G94A:p.G32R;ENSG00000150477:ENST00000591619:exon2:c.G82A:p.G28R;	0.999972276131435	1.0
18	34414318	G	C	18	36834355	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon2:c.G94C:p.G32R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon2:c.G94C:p.G32R;ENSG00000150477:ENST00000280020:exon2:c.G94C:p.G32R;ENSG00000150477:ENST00000592521:exon2:c.G94C:p.G32R;ENSG00000150477:ENST00000592611:exon2:c.G94C:p.G32R;ENSG00000150477:ENST00000591619:exon2:c.G82C:p.G28R;	0.999994489789114	1.0
18	34414318	G	T	18	36834355	y	y	exonic	KIAA1328	stopgain SNV	KIAA1328:NM_020776:exon2:c.G94T:p.G32X;	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000590617:exon2:c.G94T:p.G32X;ENSG00000150477:ENST00000280020:exon2:c.G94T:p.G32X;ENSG00000150477:ENST00000592521:exon2:c.G94T:p.G32X;ENSG00000150477:ENST00000592611:exon2:c.G94T:p.G32X;ENSG00000150477:ENST00000591619:exon2:c.G82T:p.G28X;	0.999976416642795	0.998
18	34414319	G	A	18	36834356	y	y	splicing	KIAA1328(NM_020776:exon2:c.94+1G>A)	.	.	splicing	ENSG00000150477(ENST00000592611:exon2:c.94+1G>A;ENST00000280020:exon2:c.94+1G>A;ENST00000592521:exon2:c.94+1G>A;ENST00000590617:exon2:c.94+1G>A;ENST00000591619:exon2:c.82+1G>A)	.	.	0.999986675681007	0.932
18	34414319	G	C	18	36834356	y	y	splicing	KIAA1328(NM_020776:exon2:c.94+1G>C)	.	.	splicing	ENSG00000150477(ENST00000592611:exon2:c.94+1G>C;ENST00000280020:exon2:c.94+1G>C;ENST00000592521:exon2:c.94+1G>C;ENST00000590617:exon2:c.94+1G>C;ENST00000591619:exon2:c.82+1G>C)	.	.	0.999986675681007	0.932
18	34414319	G	T	18	36834356	y	y	splicing	KIAA1328(NM_020776:exon2:c.94+1G>T)	.	.	splicing	ENSG00000150477(ENST00000592611:exon2:c.94+1G>T;ENST00000280020:exon2:c.94+1G>T;ENST00000592521:exon2:c.94+1G>T;ENST00000590617:exon2:c.94+1G>T;ENST00000591619:exon2:c.82+1G>T)	.	.	0.999986675681007	0.932
18	34414320	T	A	18	36834357	y	y	splicing	KIAA1328(NM_020776:exon2:c.94+2T>A)	.	.	splicing	ENSG00000150477(ENST00000592611:exon2:c.94+2T>A;ENST00000280020:exon2:c.94+2T>A;ENST00000592521:exon2:c.94+2T>A;ENST00000590617:exon2:c.94+2T>A;ENST00000591619:exon2:c.82+2T>A)	.	.	0.999988247793601	0.928
18	34414320	T	C	18	36834357	y	y	splicing	KIAA1328(NM_020776:exon2:c.94+2T>C)	.	.	splicing	ENSG00000150477(ENST00000592611:exon2:c.94+2T>C;ENST00000280020:exon2:c.94+2T>C;ENST00000592521:exon2:c.94+2T>C;ENST00000590617:exon2:c.94+2T>C;ENST00000591619:exon2:c.82+2T>C)	.	.	0.992054276455321	0.596
18	34414320	T	G	18	36834357	y	y	splicing	KIAA1328(NM_020776:exon2:c.94+2T>G)	.	.	splicing	ENSG00000150477(ENST00000592611:exon2:c.94+2T>G;ENST00000280020:exon2:c.94+2T>G;ENST00000592521:exon2:c.94+2T>G;ENST00000590617:exon2:c.94+2T>G;ENST00000591619:exon2:c.82+2T>G)	.	.	0.999988247793601	0.928
18	34414321	A	C	18	36834358	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999365687344366	0.904
18	34414321	A	G	18	36834358	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.997580181884871	0.862
18	34414321	A	T	18	36834358	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999308397224639	0.968
18	34414322	T	A	18	36834359	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00314535539689308	0.076
18	34414322	T	C	18	36834359	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0964826249816759	0.174
18	34414322	T	G	18	36834359	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00512052991624802	0.034
18	34414323	G	A	18	36834360	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.996385793193004	0.724
18	34414323	G	C	18	36834360	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.996933168731265	0.79
18	34414323	G	T	18	36834360	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.996643223215081	0.812
18	34414324	A	C	18	36834361	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00321295463092463	0.036
18	34414324	A	G	18	36834361	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.21902784503868E-4	0.0
18	34414324	A	T	18	36834361	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.11018430666185E-4	0.004
18	34414325	T	A	18	36834362	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.78122302654985E-4	0.012
18	34414325	T	C	18	36834362	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.03743240923519E-4	0.004
18	34414325	T	G	18	36834362	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.42127165531937E-4	0.024
18	34414326	T	A	18	36834363	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.20311035054999E-5	0.004
18	34414326	T	C	18	36834363	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.39185983677581E-4	0.0
18	34414326	T	G	18	36834363	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.66055746852304E-5	0.0
18	34415185	G	A	18	36835222	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.99892143196744	0.928
18	34415185	G	C	18	36835222	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.21447207173036E-4	0.082
18	34415185	G	T	18	36835222	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.70777670795021E-4	0.074
18	34415186	G	A	18	36835223	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.3873335877238E-5	0.068
18	34415186	G	C	18	36835223	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.46828589049434E-5	0.022
18	34415186	G	T	18	36835223	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.70665578462037E-4	0.092
18	34415187	A	C	18	36835224	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.1278267800022E-4	0.018
18	34415187	A	G	18	36835224	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.5792329780445E-4	0.068
18	34415187	A	T	18	36835224	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.16931371086243E-4	0.048
18	34415188	A	C	18	36835225	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.55483320275302E-4	0.02
18	34415188	A	G	18	36835225	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999531819529629	0.946
18	34415188	A	T	18	36835225	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.71619755281624E-4	0.056
18	34415189	A	C	18	36835226	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.0416319497716E-4	0.036
18	34415189	A	G	18	36835226	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.998367624694919	0.914
18	34415189	A	T	18	36835226	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.68714597112014E-4	0.074
18	34415190	T	A	18	36835227	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0389788564787753	0.446
18	34415190	T	C	18	36835227	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.45068912693849E-5	0.032
18	34415190	T	G	18	36835227	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.988947624703405	0.952
18	34415191	C	A	18	36835228	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.319716124037942	0.514
18	34415191	C	G	18	36835228	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.463966598944382	0.516
18	34415191	C	T	18	36835228	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.92410696582003E-4	0.054
18	34415192	C	A	18	36835229	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.006510033737738	0.196
18	34415192	C	G	18	36835229	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0622397538598909	0.29
18	34415192	C	T	18	36835229	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.02334525547431E-5	0.028
18	34415193	T	A	18	36835230	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.77358723052667E-5	0.01
18	34415193	T	C	18	36835230	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.11644527469324E-5	0.024
18	34415193	T	G	18	36835230	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.32072815569596E-5	0.026
18	34415194	T	A	18	36835231	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.535689341567932	0.468
18	34415194	T	C	18	36835231	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.72801247146277E-4	0.032
18	34415194	T	G	18	36835231	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.93833463085462	0.606
18	34415195	A	C	18	36835232	y	y	splicing	KIAA1328(NM_020776:exon3:c.95-2A>C)	.	.	splicing	ENSG00000150477(ENST00000592611:exon3:c.95-2A>C;ENST00000280020:exon3:c.95-2A>C;ENST00000592521:exon3:c.95-2A>C;ENST00000590617:exon3:c.95-2A>C;ENST00000591619:exon3:c.83-2A>C)	.	.	0.999918281598377	0.864
18	34415195	A	G	18	36835232	y	y	splicing	KIAA1328(NM_020776:exon3:c.95-2A>G)	.	.	splicing	ENSG00000150477(ENST00000592611:exon3:c.95-2A>G;ENST00000280020:exon3:c.95-2A>G;ENST00000592521:exon3:c.95-2A>G;ENST00000590617:exon3:c.95-2A>G;ENST00000591619:exon3:c.83-2A>G)	.	.	0.999918281598377	0.864
18	34415195	A	T	18	36835232	y	y	splicing	KIAA1328(NM_020776:exon3:c.95-2A>T)	.	.	splicing	ENSG00000150477(ENST00000592611:exon3:c.95-2A>T;ENST00000280020:exon3:c.95-2A>T;ENST00000592521:exon3:c.95-2A>T;ENST00000590617:exon3:c.95-2A>T;ENST00000591619:exon3:c.83-2A>T)	.	.	0.99989650073656	0.894
18	34415196	G	A	18	36835233	y	y	splicing	KIAA1328(NM_020776:exon3:c.95-1G>A)	.	.	splicing	ENSG00000150477(ENST00000592611:exon3:c.95-1G>A;ENST00000280020:exon3:c.95-1G>A;ENST00000592521:exon3:c.95-1G>A;ENST00000590617:exon3:c.95-1G>A;ENST00000591619:exon3:c.83-1G>A)	.	.	0.999800034855008	0.872
18	34415196	G	C	18	36835233	y	y	splicing	KIAA1328(NM_020776:exon3:c.95-1G>C)	.	.	splicing	ENSG00000150477(ENST00000592611:exon3:c.95-1G>C;ENST00000280020:exon3:c.95-1G>C;ENST00000592521:exon3:c.95-1G>C;ENST00000590617:exon3:c.95-1G>C;ENST00000591619:exon3:c.83-1G>C)	.	.	0.999880609660148	0.872
18	34415196	G	T	18	36835233	y	y	splicing	KIAA1328(NM_020776:exon3:c.95-1G>T)	.	.	splicing	ENSG00000150477(ENST00000592611:exon3:c.95-1G>T;ENST00000280020:exon3:c.95-1G>T;ENST00000592521:exon3:c.95-1G>T;ENST00000590617:exon3:c.95-1G>T;ENST00000591619:exon3:c.83-1G>T)	.	.	0.999880609660148	0.868
18	34415197	G	A	18	36835234	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.G95A:p.G32E;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.G95A:p.G32E;ENSG00000150477:ENST00000280020:exon3:c.G95A:p.G32E;ENSG00000150477:ENST00000592521:exon3:c.G95A:p.G32E;ENSG00000150477:ENST00000592611:exon3:c.G95A:p.G32E;ENSG00000150477:ENST00000591619:exon3:c.G83A:p.G28E;	0.954554809143221	0.582
18	34415197	G	C	18	36835234	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.G95C:p.G32A;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.G95C:p.G32A;ENSG00000150477:ENST00000280020:exon3:c.G95C:p.G32A;ENSG00000150477:ENST00000592521:exon3:c.G95C:p.G32A;ENSG00000150477:ENST00000592611:exon3:c.G95C:p.G32A;ENSG00000150477:ENST00000591619:exon3:c.G83C:p.G28A;	0.995389226892196	0.742
18	34415197	G	T	18	36835234	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.G95T:p.G32V;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.G95T:p.G32V;ENSG00000150477:ENST00000280020:exon3:c.G95T:p.G32V;ENSG00000150477:ENST00000592521:exon3:c.G95T:p.G32V;ENSG00000150477:ENST00000592611:exon3:c.G95T:p.G32V;ENSG00000150477:ENST00000591619:exon3:c.G83T:p.G28V;	0.999658977431615	0.93
18	34415198	A	C	18	36835235	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon3:c.A96C:p.G32G;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.A96C:p.G32G;ENSG00000150477:ENST00000280020:exon3:c.A96C:p.G32G;ENSG00000150477:ENST00000592521:exon3:c.A96C:p.G32G;ENSG00000150477:ENST00000592611:exon3:c.A96C:p.G32G;ENSG00000150477:ENST00000591619:exon3:c.A84C:p.G28G;	1.8574864211772E-5	0.06
18	34415198	A	G	18	36835235	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon3:c.A96G:p.G32G;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.A96G:p.G32G;ENSG00000150477:ENST00000280020:exon3:c.A96G:p.G32G;ENSG00000150477:ENST00000592521:exon3:c.A96G:p.G32G;ENSG00000150477:ENST00000592611:exon3:c.A96G:p.G32G;ENSG00000150477:ENST00000591619:exon3:c.A84G:p.G28G;	7.75534676869633E-6	0.036
18	34415198	A	T	18	36835235	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon3:c.A96T:p.G32G;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.A96T:p.G32G;ENSG00000150477:ENST00000280020:exon3:c.A96T:p.G32G;ENSG00000150477:ENST00000592521:exon3:c.A96T:p.G32G;ENSG00000150477:ENST00000592611:exon3:c.A96T:p.G32G;ENSG00000150477:ENST00000591619:exon3:c.A84T:p.G28G;	4.33651578538099E-6	0.002
18	34415337	C	A	18	36835374	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.C235A:p.Q79K;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.C235A:p.Q79K;ENSG00000150477:ENST00000280020:exon3:c.C235A:p.Q79K;ENSG00000150477:ENST00000592521:exon3:c.C235A:p.Q79K;ENSG00000150477:ENST00000592611:exon3:c.C235A:p.Q79K;ENSG00000150477:ENST00000591619:exon3:c.C223A:p.Q75K;ENSG00000150477:ENST00000543923:exon3:c.C6A:p.N2K;	0.0135320580903644	0.102
18	34415337	C	G	18	36835374	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.C235G:p.Q79E;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.C235G:p.Q79E;ENSG00000150477:ENST00000280020:exon3:c.C235G:p.Q79E;ENSG00000150477:ENST00000592521:exon3:c.C235G:p.Q79E;ENSG00000150477:ENST00000592611:exon3:c.C235G:p.Q79E;ENSG00000150477:ENST00000591619:exon3:c.C223G:p.Q75E;ENSG00000150477:ENST00000543923:exon3:c.C6G:p.N2K;	0.012648458822036	0.132
18	34415337	C	T	18	36835374	y	y	exonic	KIAA1328	stopgain SNV	KIAA1328:NM_020776:exon3:c.C235T:p.Q79X;	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000590617:exon3:c.C235T:p.Q79X;ENSG00000150477:ENST00000280020:exon3:c.C235T:p.Q79X;ENSG00000150477:ENST00000592521:exon3:c.C235T:p.Q79X;ENSG00000150477:ENST00000592611:exon3:c.C235T:p.Q79X;ENSG00000150477:ENST00000591619:exon3:c.C223T:p.Q75X;	0.995886811821395	0.842
18	34415338	A	C	18	36835375	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.A236C:p.Q79P;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.A236C:p.Q79P;ENSG00000150477:ENST00000280020:exon3:c.A236C:p.Q79P;ENSG00000150477:ENST00000592521:exon3:c.A236C:p.Q79P;ENSG00000150477:ENST00000592611:exon3:c.A236C:p.Q79P;ENSG00000150477:ENST00000591619:exon3:c.A224C:p.Q75P;	0.93243954530584	0.71
18	34415338	A	G	18	36835375	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.A236G:p.Q79R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.A236G:p.Q79R;ENSG00000150477:ENST00000280020:exon3:c.A236G:p.Q79R;ENSG00000150477:ENST00000592521:exon3:c.A236G:p.Q79R;ENSG00000150477:ENST00000592611:exon3:c.A236G:p.Q79R;ENSG00000150477:ENST00000591619:exon3:c.A224G:p.Q75R;ENSG00000150477:ENST00000543923:exon3:c.A7G:p.R3G;	0.997385051094068	0.926
18	34415338	A	T	18	36835375	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.A236T:p.Q79L;	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000543923:exon3:c.A7T:p.R3X;	0.995823188841611	0.868
18	34415339	G	A	18	36835376	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon3:c.G237A:p.Q79Q;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000543923:exon3:c.G8A:p.R3K;	0.999948232969323	0.992
18	34415339	G	C	18	36835376	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.G237C:p.Q79H;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.G237C:p.Q79H;ENSG00000150477:ENST00000280020:exon3:c.G237C:p.Q79H;ENSG00000150477:ENST00000592521:exon3:c.G237C:p.Q79H;ENSG00000150477:ENST00000592611:exon3:c.G237C:p.Q79H;ENSG00000150477:ENST00000591619:exon3:c.G225C:p.Q75H;ENSG00000150477:ENST00000543923:exon3:c.G8C:p.R3T;	0.999993892799584	0.988
18	34415339	G	T	18	36835376	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon3:c.G237T:p.Q79H;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon3:c.G237T:p.Q79H;ENSG00000150477:ENST00000280020:exon3:c.G237T:p.Q79H;ENSG00000150477:ENST00000592521:exon3:c.G237T:p.Q79H;ENSG00000150477:ENST00000592611:exon3:c.G237T:p.Q79H;ENSG00000150477:ENST00000591619:exon3:c.G225T:p.Q75H;ENSG00000150477:ENST00000543923:exon3:c.G8T:p.R3I;	0.999990180083496	0.996
18	34415340	G	A	18	36835377	y	y	splicing	KIAA1328(NM_020776:exon3:c.237+1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon3:c.8+1G>A;ENST00000592611:exon3:c.237+1G>A;ENST00000280020:exon3:c.237+1G>A;ENST00000592521:exon3:c.237+1G>A;ENST00000590617:exon3:c.237+1G>A;ENST00000591619:exon3:c.225+1G>A)	.	.	0.999938990645747	0.948
18	34415340	G	C	18	36835377	y	y	splicing	KIAA1328(NM_020776:exon3:c.237+1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon3:c.8+1G>C;ENST00000592611:exon3:c.237+1G>C;ENST00000280020:exon3:c.237+1G>C;ENST00000592521:exon3:c.237+1G>C;ENST00000590617:exon3:c.237+1G>C;ENST00000591619:exon3:c.225+1G>C)	.	.	0.999938990645747	0.942
18	34415340	G	T	18	36835377	y	y	splicing	KIAA1328(NM_020776:exon3:c.237+1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon3:c.8+1G>T;ENST00000592611:exon3:c.237+1G>T;ENST00000280020:exon3:c.237+1G>T;ENST00000592521:exon3:c.237+1G>T;ENST00000590617:exon3:c.237+1G>T;ENST00000591619:exon3:c.225+1G>T)	.	.	0.999938990645747	0.934
18	34415341	T	A	18	36835378	y	y	splicing	KIAA1328(NM_020776:exon3:c.237+2T>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon3:c.8+2T>A;ENST00000592611:exon3:c.237+2T>A;ENST00000280020:exon3:c.237+2T>A;ENST00000592521:exon3:c.237+2T>A;ENST00000590617:exon3:c.237+2T>A;ENST00000591619:exon3:c.225+2T>A)	.	.	0.999978156327223	0.934
18	34415341	T	C	18	36835378	y	y	splicing	KIAA1328(NM_020776:exon3:c.237+2T>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon3:c.8+2T>C;ENST00000592611:exon3:c.237+2T>C;ENST00000280020:exon3:c.237+2T>C;ENST00000592521:exon3:c.237+2T>C;ENST00000590617:exon3:c.237+2T>C;ENST00000591619:exon3:c.225+2T>C)	.	.	0.977893172302958	0.564
18	34415341	T	G	18	36835378	y	y	splicing	KIAA1328(NM_020776:exon3:c.237+2T>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon3:c.8+2T>G;ENST00000592611:exon3:c.237+2T>G;ENST00000280020:exon3:c.237+2T>G;ENST00000592521:exon3:c.237+2T>G;ENST00000590617:exon3:c.237+2T>G;ENST00000591619:exon3:c.225+2T>G)	.	.	0.99997739437695	0.932
18	34415342	T	A	18	36835379	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.01650821708062E-4	0.034
18	34415342	T	C	18	36835379	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.41843560104211E-5	0.0
18	34415342	T	G	18	36835379	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.83180132948934E-5	0.064
18	34415343	A	C	18	36835380	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0619496773270159	0.386
18	34415343	A	G	18	36835380	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0311359386335323	0.376
18	34415343	A	T	18	36835380	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0993543139977617	0.368
18	34415344	G	A	18	36835381	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.996938728227543	0.804
18	34415344	G	C	18	36835381	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999527815320663	0.848
18	34415344	G	T	18	36835381	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.996697915115642	0.734
18	34415345	T	A	18	36835382	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.257915584663472	0.442
18	34415345	T	C	18	36835382	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.868469143173354	0.534
18	34415345	T	G	18	36835382	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0622858485100666	0.324
18	34415346	A	C	18	36835383	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.44556171508678E-5	0.0
18	34415346	A	G	18	36835383	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.91993147902504E-5	0.0
18	34415346	A	T	18	36835383	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.5319706788237E-5	0.008
18	34415347	T	A	18	36835384	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.3004317960578E-5	0.0
18	34415347	T	C	18	36835384	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.47348756796826E-5	0.0
18	34415347	T	G	18	36835384	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.74108293950862E-5	0.0
18	34424159	T	A	18	36844196	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00411214979358021	0.096
18	34424159	T	C	18	36844196	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.20243017418903E-4	0.022
18	34424159	T	G	18	36844196	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00162780133968997	0.104
18	34424160	T	A	18	36844197	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0226446378343287	0.322
18	34424160	T	C	18	36844197	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00256707933433413	0.048
18	34424160	T	G	18	36844197	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00826861533145371	0.304
18	34424161	T	A	18	36844198	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0053820560779852	0.21
18	34424161	T	C	18	36844198	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.87708551207547E-4	0.024
18	34424161	T	G	18	36844198	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00222886072431074	0.142
18	34424162	T	A	18	36844199	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.25029261953191E-4	0.048
18	34424162	T	C	18	36844199	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.05809985252622E-5	0.004
18	34424162	T	G	18	36844199	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.63073312008245E-4	0.07
18	34424163	T	A	18	36844200	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.55026709449059E-4	0.032
18	34424163	T	C	18	36844200	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.20377923251196E-5	0.0
18	34424163	T	G	18	36844200	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.07877748812338E-4	0.018
18	34424164	T	A	18	36844201	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.39163986879056E-4	0.06
18	34424164	T	C	18	36844201	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.39136688210872E-5	0.006
18	34424164	T	G	18	36844201	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.30844421063959E-5	0.042
18	34424165	T	A	18	36844202	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0023849098662756	0.262
18	34424165	T	C	18	36844202	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.1304996325456E-4	0.052
18	34424165	T	G	18	36844202	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0023849098662756	0.246
18	34424166	T	A	18	36844203	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00473111371331448	0.242
18	34424166	T	C	18	36844203	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.73969367416532E-4	0.048
18	34424166	T	G	18	36844203	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0212898165211261	0.24
18	34424167	T	A	18	36844204	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.0841453130488E-5	0.004
18	34424167	T	C	18	36844204	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.36604434760872E-4	0.058
18	34424167	T	G	18	36844204	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.7370626998549E-5	0.002
18	34424168	A	C	18	36844205	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.33149915471243E-5	0.026
18	34424168	A	G	18	36844205	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00194018918041413	0.136
18	34424168	A	T	18	36844205	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.80428593502115E-5	0.002
18	34424169	A	C	18	36844206	y	y	splicing	KIAA1328(NM_020776:exon4:c.238-2A>C)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.238-2A>C;ENST00000592521:exon4:c.238-2A>C;ENST00000587139:exon2:c.201-2A>C;ENST00000591619:exon4:c.226-2A>C)	.	.	0.999946188727699	0.944
18	34424169	A	G	18	36844206	y	y	splicing	KIAA1328(NM_020776:exon4:c.238-2A>G)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.238-2A>G;ENST00000592521:exon4:c.238-2A>G;ENST00000587139:exon2:c.201-2A>G;ENST00000591619:exon4:c.226-2A>G)	.	.	0.999946188727699	0.944
18	34424169	A	T	18	36844206	y	y	splicing	KIAA1328(NM_020776:exon4:c.238-2A>T)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.238-2A>T;ENST00000592521:exon4:c.238-2A>T;ENST00000587139:exon2:c.201-2A>T;ENST00000591619:exon4:c.226-2A>T)	.	.	0.999946188727699	0.942
18	34424170	G	A	18	36844207	y	y	splicing	KIAA1328(NM_020776:exon4:c.238-1G>A)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.238-1G>A;ENST00000592521:exon4:c.238-1G>A;ENST00000587139:exon2:c.201-1G>A;ENST00000591619:exon4:c.226-1G>A)	.	.	0.999986675681007	0.934
18	34424170	G	C	18	36844207	y	y	splicing	KIAA1328(NM_020776:exon4:c.238-1G>C)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.238-1G>C;ENST00000592521:exon4:c.238-1G>C;ENST00000587139:exon2:c.201-1G>C;ENST00000591619:exon4:c.226-1G>C)	.	.	0.999986675681007	0.934
18	34424170	G	T	18	36844207	y	y	splicing	KIAA1328(NM_020776:exon4:c.238-1G>T)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.238-1G>T;ENST00000592521:exon4:c.238-1G>T;ENST00000587139:exon2:c.201-1G>T;ENST00000591619:exon4:c.226-1G>T)	.	.	0.999986675681007	0.934
18	34424171	A	C	18	36844208	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.A238C:p.N80H;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.A238C:p.N80H;ENSG00000150477:ENST00000592521:exon4:c.A238C:p.N80H;ENSG00000150477:ENST00000591619:exon4:c.A226C:p.N76H;	0.0666011429443494	0.38
18	34424171	A	G	18	36844208	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.A238G:p.N80D;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.A238G:p.N80D;ENSG00000150477:ENST00000592521:exon4:c.A238G:p.N80D;ENSG00000150477:ENST00000591619:exon4:c.A226G:p.N76D;	7.87823085186901E-4	0.028
18	34424171	A	T	18	36844208	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.A238T:p.N80Y;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.A238T:p.N80Y;ENSG00000150477:ENST00000592521:exon4:c.A238T:p.N80Y;ENSG00000150477:ENST00000591619:exon4:c.A226T:p.N76Y;	0.0939863759640676	0.412
18	34424172	A	C	18	36844209	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.A239C:p.N80T;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.A239C:p.N80T;ENSG00000150477:ENST00000592521:exon4:c.A239C:p.N80T;ENSG00000150477:ENST00000591619:exon4:c.A227C:p.N76T;	0.00112653398065105	0.03
18	34424172	A	G	18	36844209	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.A239G:p.N80S;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.A239G:p.N80S;ENSG00000150477:ENST00000592521:exon4:c.A239G:p.N80S;ENSG00000150477:ENST00000591619:exon4:c.A227G:p.N76S;	2.95796730494791E-4	0.032
18	34424172	A	T	18	36844209	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.A239T:p.N80I;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.A239T:p.N80I;ENSG00000150477:ENST00000592521:exon4:c.A239T:p.N80I;ENSG00000150477:ENST00000591619:exon4:c.A227T:p.N76I;	7.6028854788879E-5	0.124
18	34424263	C	A	18	36844300	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon4:c.C330A:p.A110A;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.C330A:p.A110A;ENSG00000150477:ENST00000592521:exon4:c.C330A:p.A110A;ENSG00000150477:ENST00000591619:exon4:c.C318A:p.A106A;	0.00339885850469256	0.092
18	34424263	C	G	18	36844300	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon4:c.C330G:p.A110A;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.C330G:p.A110A;ENSG00000150477:ENST00000592521:exon4:c.C330G:p.A110A;ENSG00000150477:ENST00000591619:exon4:c.C318G:p.A106A;	0.00319436858989759	0.07
18	34424263	C	T	18	36844300	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon4:c.C330T:p.A110A;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.C330T:p.A110A;ENSG00000150477:ENST00000592521:exon4:c.C330T:p.A110A;ENSG00000150477:ENST00000591619:exon4:c.C318T:p.A106A;	0.181298921475108	0.558
18	34424264	A	C	18	36844301	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon4:c.A331C:p.R111R;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.A331C:p.R111R;ENSG00000150477:ENST00000592521:exon4:c.A331C:p.R111R;ENSG00000150477:ENST00000591619:exon4:c.A319C:p.R107R;	0.969380355771022	0.924
18	34424264	A	G	18	36844301	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.A331G:p.R111G;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.A331G:p.R111G;ENSG00000150477:ENST00000592521:exon4:c.A331G:p.R111G;ENSG00000150477:ENST00000591619:exon4:c.A319G:p.R107G;	0.999791259833698	0.988
18	34424264	A	T	18	36844301	y	y	exonic	KIAA1328	stopgain SNV	KIAA1328:NM_020776:exon4:c.A331T:p.R111X;	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000280020:exon4:c.A331T:p.R111X;ENSG00000150477:ENST00000592521:exon4:c.A331T:p.R111X;ENSG00000150477:ENST00000591619:exon4:c.A319T:p.R107X;	0.999679653392984	0.968
18	34424265	G	A	18	36844302	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.G332A:p.R111K;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.G332A:p.R111K;ENSG00000150477:ENST00000592521:exon4:c.G332A:p.R111K;ENSG00000150477:ENST00000591619:exon4:c.G320A:p.R107K;	0.999971920684371	0.996
18	34424265	G	C	18	36844302	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.G332C:p.R111T;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.G332C:p.R111T;ENSG00000150477:ENST00000592521:exon4:c.G332C:p.R111T;ENSG00000150477:ENST00000591619:exon4:c.G320C:p.R107T;	0.999996580229587	0.998
18	34424265	G	T	18	36844302	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon4:c.G332T:p.R111I;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon4:c.G332T:p.R111I;ENSG00000150477:ENST00000592521:exon4:c.G332T:p.R111I;ENSG00000150477:ENST00000591619:exon4:c.G320T:p.R107I;	0.999939117889219	0.996
18	34424266	G	A	18	36844303	y	y	splicing	KIAA1328(NM_020776:exon4:c.332+1G>A)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.332+1G>A;ENST00000592521:exon4:c.332+1G>A;ENST00000587139:exon2:c.295+1G>A;ENST00000591619:exon4:c.320+1G>A)	.	.	0.999986675681007	0.934
18	34424266	G	C	18	36844303	y	y	splicing	KIAA1328(NM_020776:exon4:c.332+1G>C)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.332+1G>C;ENST00000592521:exon4:c.332+1G>C;ENST00000587139:exon2:c.295+1G>C;ENST00000591619:exon4:c.320+1G>C)	.	.	0.999986675681007	0.932
18	34424266	G	T	18	36844303	y	y	splicing	KIAA1328(NM_020776:exon4:c.332+1G>T)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.332+1G>T;ENST00000592521:exon4:c.332+1G>T;ENST00000587139:exon2:c.295+1G>T;ENST00000591619:exon4:c.320+1G>T)	.	.	0.999986675681007	0.934
18	34424267	T	A	18	36844304	y	y	splicing	KIAA1328(NM_020776:exon4:c.332+2T>A)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.332+2T>A;ENST00000592521:exon4:c.332+2T>A;ENST00000587139:exon2:c.295+2T>A;ENST00000591619:exon4:c.320+2T>A)	.	.	0.999988247793601	0.928
18	34424267	T	C	18	36844304	y	y	splicing	KIAA1328(NM_020776:exon4:c.332+2T>C)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.332+2T>C;ENST00000592521:exon4:c.332+2T>C;ENST00000587139:exon2:c.295+2T>C;ENST00000591619:exon4:c.320+2T>C)	.	.	0.99991520749976	0.86
18	34424267	T	G	18	36844304	y	y	splicing	KIAA1328(NM_020776:exon4:c.332+2T>G)	.	.	splicing	ENSG00000150477(ENST00000280020:exon4:c.332+2T>G;ENST00000592521:exon4:c.332+2T>G;ENST00000587139:exon2:c.295+2T>G;ENST00000591619:exon4:c.320+2T>G)	.	.	0.999988247793601	0.928
18	34424268	G	A	18	36844305	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.79460626224071E-5	0.0
18	34424268	G	C	18	36844305	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00806768556415195	0.154
18	34424268	G	T	18	36844305	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0112689225629931	0.246
18	34424269	A	C	18	36844306	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.955213776710014	0.692
18	34424269	A	G	18	36844306	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.983704227334836	0.734
18	34424269	A	T	18	36844306	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.995464139163902	0.794
18	34424270	G	A	18	36844307	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999761060535604	0.942
18	34424270	G	C	18	36844307	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.997923779710189	0.802
18	34424270	G	T	18	36844307	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.995700013393983	0.862
18	34424271	A	C	18	36844308	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0157240784457136	0.106
18	34424271	A	G	18	36844308	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00186473712786917	0.01
18	34424271	A	T	18	36844308	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00211285082194345	0.008
18	34424272	T	A	18	36844309	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.58675184684839E-5	0.014
18	34424272	T	C	18	36844309	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.58675184684839E-5	0.016
18	34424272	T	G	18	36844309	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.58675184684839E-5	0.014
18	34424273	A	C	18	36844310	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.09549498850697E-4	0.002
18	34424273	A	G	18	36844310	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.64105788533389E-4	0.0
18	34424273	A	T	18	36844310	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.29436521907245E-4	0.006
18	34465508	T	A	18	36885545	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.02780749654759E-4	0.042
18	34465508	T	C	18	36885545	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.07809031999215E-5	0.004
18	34465508	T	G	18	36885545	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.6792517817679E-5	0.07
18	34465509	T	A	18	36885546	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.15370771898988E-4	0.092
18	34465509	T	C	18	36885546	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.89040762807729E-5	0.01
18	34465509	T	G	18	36885546	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.60290505746536E-4	0.11
18	34465510	T	A	18	36885547	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.06177300347423E-4	0.062
18	34465510	T	C	18	36885547	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.87116643964429E-5	0.042
18	34465510	T	G	18	36885547	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.85696625299978E-4	0.082
18	34465511	T	A	18	36885548	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.28445097731308E-5	0.058
18	34465511	T	C	18	36885548	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.40240398221495E-5	0.004
18	34465511	T	G	18	36885548	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.2600885433211E-5	0.056
18	34465512	T	A	18	36885549	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.96107090764672E-5	0.002
18	34465512	T	C	18	36885549	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.63378345568966E-5	0.0
18	34465512	T	G	18	36885549	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.50875143965499E-5	0.016
18	34465513	A	C	18	36885550	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.31289376882303E-5	0.002
18	34465513	A	G	18	36885550	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.19732639426953E-4	0.008
18	34465513	A	T	18	36885550	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.13155332790491E-5	0.066
18	34465514	T	A	18	36885551	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00512946569866174	0.184
18	34465514	T	C	18	36885551	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00130467674035519	0.102
18	34465514	T	G	18	36885551	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999688422145039	0.93
18	34465515	T	A	18	36885552	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.3269050027969E-4	0.116
18	34465515	T	C	18	36885552	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.20991955960553E-5	0.002
18	34465515	T	G	18	36885552	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.04670615563755E-4	0.14
18	34465516	T	A	18	36885553	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.04109902018176E-4	0.006
18	34465516	T	C	18	36885553	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.04213541769709E-4	0.006
18	34465516	T	G	18	36885553	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4307949172091E-4	0.002
18	34465517	C	A	18	36885554	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.586174250285682	0.496
18	34465517	C	G	18	36885554	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999718102465181	0.87
18	34465517	C	T	18	36885554	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00643699075307246	0.108
18	34465518	A	C	18	36885555	y	y	splicing	KIAA1328(NM_020776:exon5:c.333-2A>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon4:c.9-2A>C;ENST00000592611:exon4:c.238-2A>C;ENST00000280020:exon5:c.333-2A>C;ENST00000592521:exon5:c.333-2A>C;ENST00000590617:exon4:c.238-2A>C;ENST00000587139:exon3:c.296-2A>C;ENST00000591619:exon5:c.321-2A>C)	.	.	0.999988247793601	0.928
18	34465518	A	G	18	36885555	y	y	splicing	KIAA1328(NM_020776:exon5:c.333-2A>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon4:c.9-2A>G;ENST00000592611:exon4:c.238-2A>G;ENST00000280020:exon5:c.333-2A>G;ENST00000592521:exon5:c.333-2A>G;ENST00000590617:exon4:c.238-2A>G;ENST00000587139:exon3:c.296-2A>G;ENST00000591619:exon5:c.321-2A>G)	.	.	0.999988247793601	0.928
18	34465518	A	T	18	36885555	y	y	splicing	KIAA1328(NM_020776:exon5:c.333-2A>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon4:c.9-2A>T;ENST00000592611:exon4:c.238-2A>T;ENST00000280020:exon5:c.333-2A>T;ENST00000592521:exon5:c.333-2A>T;ENST00000590617:exon4:c.238-2A>T;ENST00000587139:exon3:c.296-2A>T;ENST00000591619:exon5:c.321-2A>T)	.	.	0.999988247793601	0.928
18	34465519	G	A	18	36885556	y	y	splicing	KIAA1328(NM_020776:exon5:c.333-1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon4:c.9-1G>A;ENST00000592611:exon4:c.238-1G>A;ENST00000280020:exon5:c.333-1G>A;ENST00000592521:exon5:c.333-1G>A;ENST00000590617:exon4:c.238-1G>A;ENST00000587139:exon3:c.296-1G>A;ENST00000591619:exon5:c.321-1G>A)	.	.	0.999986675681007	0.932
18	34465519	G	C	18	36885556	y	y	splicing	KIAA1328(NM_020776:exon5:c.333-1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon4:c.9-1G>C;ENST00000592611:exon4:c.238-1G>C;ENST00000280020:exon5:c.333-1G>C;ENST00000592521:exon5:c.333-1G>C;ENST00000590617:exon4:c.238-1G>C;ENST00000587139:exon3:c.296-1G>C;ENST00000591619:exon5:c.321-1G>C)	.	.	0.999986675681007	0.932
18	34465519	G	T	18	36885556	y	y	splicing	KIAA1328(NM_020776:exon5:c.333-1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon4:c.9-1G>T;ENST00000592611:exon4:c.238-1G>T;ENST00000280020:exon5:c.333-1G>T;ENST00000592521:exon5:c.333-1G>T;ENST00000590617:exon4:c.238-1G>T;ENST00000587139:exon3:c.296-1G>T;ENST00000591619:exon5:c.321-1G>T)	.	.	0.999986675681007	0.932
18	34465520	A	C	18	36885557	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon5:c.A333C:p.R111S;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon4:c.A238C:p.S80R;ENSG00000150477:ENST00000280020:exon5:c.A333C:p.R111S;ENSG00000150477:ENST00000592521:exon5:c.A333C:p.R111S;ENSG00000150477:ENST00000592611:exon4:c.A238C:p.S80R;ENSG00000150477:ENST00000591619:exon5:c.A321C:p.R107S;ENSG00000150477:ENST00000543923:exon4:c.A9C:p.R3S;	0.00468725371929228	0.156
18	34465520	A	G	18	36885557	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon5:c.A333G:p.R111R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon4:c.A238G:p.S80G;ENSG00000150477:ENST00000592611:exon4:c.A238G:p.S80G;	1.71614252376205E-4	0.0
18	34465520	A	T	18	36885557	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon5:c.A333T:p.R111S;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon4:c.A238T:p.S80C;ENSG00000150477:ENST00000280020:exon5:c.A333T:p.R111S;ENSG00000150477:ENST00000592521:exon5:c.A333T:p.R111S;ENSG00000150477:ENST00000592611:exon4:c.A238T:p.S80C;ENSG00000150477:ENST00000591619:exon5:c.A321T:p.R107S;ENSG00000150477:ENST00000543923:exon4:c.A9T:p.R3S;	0.00468725371929228	0.096
18	34465521	G	A	18	36885558	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon5:c.G334A:p.V112I;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon4:c.G239A:p.S80N;ENSG00000150477:ENST00000280020:exon5:c.G334A:p.V112I;ENSG00000150477:ENST00000592521:exon5:c.G334A:p.V112I;ENSG00000150477:ENST00000592611:exon4:c.G239A:p.S80N;ENSG00000150477:ENST00000591619:exon5:c.G322A:p.V108I;ENSG00000150477:ENST00000543923:exon4:c.G10A:p.V4I;	0.0952486414159386	0.466
18	34465521	G	C	18	36885558	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon5:c.G334C:p.V112L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon4:c.G239C:p.S80T;ENSG00000150477:ENST00000280020:exon5:c.G334C:p.V112L;ENSG00000150477:ENST00000592521:exon5:c.G334C:p.V112L;ENSG00000150477:ENST00000592611:exon4:c.G239C:p.S80T;ENSG00000150477:ENST00000591619:exon5:c.G322C:p.V108L;ENSG00000150477:ENST00000543923:exon4:c.G10C:p.V4L;	0.174878024204641	0.508
18	34465521	G	T	18	36885558	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon5:c.G334T:p.V112L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000590617:exon4:c.G239T:p.S80I;ENSG00000150477:ENST00000280020:exon5:c.G334T:p.V112L;ENSG00000150477:ENST00000592521:exon5:c.G334T:p.V112L;ENSG00000150477:ENST00000592611:exon4:c.G239T:p.S80I;ENSG00000150477:ENST00000591619:exon5:c.G322T:p.V108L;ENSG00000150477:ENST00000543923:exon4:c.G10T:p.V4L;	0.0913786864753498	0.528
18	34503922	C	A	18	36923959	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	1.26694264714169E-4	.
18	34503922	C	G	18	36923959	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	1.69413447945719E-4	.
18	34503922	C	T	18	36923959	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	1.26694264714169E-4	.
18	34503923	A	C	18	36923960	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.94293192084385E-4	.
18	34503923	A	G	18	36923960	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.94293192084385E-4	.
18	34503923	A	T	18	36923960	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.94293192084385E-4	.
18	34503924	A	C	18	36923961	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	3.77091389881998E-4	.
18	34503924	A	G	18	36923961	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	3.77091389881998E-4	.
18	34503924	A	T	18	36923961	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	3.30977057569242E-4	.
18	34503925	G	A	18	36923962	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	2.07189102955676E-4	.
18	34503925	G	C	18	36923962	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	2.7704227660956E-4	.
18	34503925	G	T	18	36923962	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	2.07189102955676E-4	.
18	34503926	T	A	18	36923963	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	2.44899577224997E-4	.
18	34503926	T	C	18	36923963	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	2.30879898099311E-4	.
18	34503926	T	G	18	36923963	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	2.30879898099311E-4	.
18	34503927	T	A	18	36923964	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.53201424601517E-4	.
18	34503927	T	C	18	36923964	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.30977057569242E-4	.
18	34503927	T	G	18	36923964	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.30977057569242E-4	.
18	34503928	G	A	18	36923965	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.47282098188995E-4	.
18	34503928	G	C	18	36923965	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.77864636263229E-4	.
18	34503928	G	T	18	36923965	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.47282098188995E-4	.
18	34503929	G	A	18	36923966	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.2984250932079E-4	.
18	34503929	G	C	18	36923966	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.2984250932079E-4	.
18	34503929	G	T	18	36923966	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.2984250932079E-4	.
18	34503930	A	C	18	36923967	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0478777911134422	.
18	34503930	A	G	18	36923967	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0478777911134422	.
18	34503930	A	T	18	36923967	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0419421273112702	.
18	34503931	A	C	18	36923968	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00201762945682395	.
18	34503931	A	G	18	36923968	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00201762945682395	.
18	34503931	A	T	18	36923968	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00210608472771716	.
18	34503932	G	A	18	36923969	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00614756333165542	.
18	34503932	G	C	18	36923969	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00594658155740664	.
18	34503932	G	T	18	36923969	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00776789252229391	.
18	34504863	T	A	18	36924900	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.409290419588263	.
18	34504863	T	C	18	36924900	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.409290419588263	.
18	34504863	T	G	18	36924900	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.409290419588263	.
18	34504864	T	A	18	36924901	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.951055980519294	.
18	34504864	T	C	18	36924901	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.965403766027746	.
18	34504864	T	G	18	36924901	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.965403766027746	.
18	34504865	T	A	18	36924902	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0022026745716684	.
18	34504865	T	C	18	36924902	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0016358544829413	.
18	34504865	T	G	18	36924902	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0016358544829413	.
18	34504866	G	A	18	36924903	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.25033821348383E-4	.
18	34504866	G	C	18	36924903	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.25033821348383E-4	.
18	34504866	G	T	18	36924903	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.25033821348383E-4	.
18	34504867	T	A	18	36924904	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.965403766027746	.
18	34504867	T	C	18	36924904	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.979401179248212	.
18	34504867	T	G	18	36924904	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.973544124837689	.
18	34504868	T	A	18	36924905	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0054303619127596	.
18	34504868	T	C	18	36924905	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00654377498669327	.
18	34504868	T	G	18	36924905	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00654377498669327	.
18	34504869	G	A	18	36924906	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.53207549242972	.
18	34504869	G	C	18	36924906	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.454281408173791	.
18	34504869	G	T	18	36924906	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.578375196385408	.
18	34504870	A	C	18	36924907	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00398125357723524	.
18	34504870	A	G	18	36924907	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00383823649771589	.
18	34504870	A	T	18	36924907	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0054303619127596	.
18	34504871	A	C	18	36924908	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.477456240806919	.
18	34504871	A	G	18	36924908	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.477456240806919	.
18	34504871	A	T	18	36924908	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.477456240806919	.
18	34504872	C	A	18	36924909	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00157736460210274	.
18	34504872	C	G	18	36924909	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00157736460210274	.
18	34504872	C	T	18	36924909	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00157736460210274	.
18	34504873	A	C	18	36924910	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.00295810390928326	.
18	34504873	A	G	18	36924910	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.00295810390928326	.
18	34504873	A	T	18	36924910	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.00398125357723524	.
18	34504874	G	A	18	36924911	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.00788814819349282	.
18	34504874	G	C	18	36924911	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.00788814819349282	.
18	34504874	G	T	18	36924911	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.00788814819349282	.
18	34504875	G	A	18	36924912	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0165186021868738	.
18	34504875	G	C	18	36924912	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0127680478619655	.
18	34504875	G	T	18	36924912	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0127680478619655	.
18	34504876	A	C	18	36924913	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00504067041808455	.
18	34504876	A	G	18	36924913	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00504067041808455	.
18	34504876	A	T	18	36924913	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00858648797614519	.
18	34504877	A	C	18	36924914	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.986093181020719	.
18	34504877	A	G	18	36924914	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.986093181020719	.
18	34504877	A	T	18	36924914	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.986093181020719	.
18	34504878	G	A	18	36924915	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0030638863749247	.
18	34504878	G	C	18	36924915	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0030638863749247	.
18	34504878	G	T	18	36924915	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0030638863749247	.
18	34504879	T	A	18	36924916	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.988444832719502	.
18	34504879	T	C	18	36924916	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.981329027139835	.
18	34504879	T	G	18	36924916	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.981329027139835	.
18	34504880	C	A	18	36924917	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0122456555053871	.
18	34504880	C	G	18	36924917	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0108905037954349	.
18	34504880	C	T	18	36924917	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0122456555053871	.
18	34505003	C	A	18	36925040	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	7.87836823192322E-5	.
18	34505003	C	G	18	36925040	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	6.26505968250516E-5	.
18	34505003	C	T	18	36925040	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	7.87836823192322E-5	.
18	34505004	C	A	18	36925041	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	7.20917224401863E-5	.
18	34505004	C	G	18	36925041	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	6.68123077660655E-5	.
18	34505004	C	T	18	36925041	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	7.51072058996997E-5	.
18	34505005	T	A	18	36925042	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.49171090176541E-4	.
18	34505005	T	C	18	36925042	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.49171090176541E-4	.
18	34505005	T	G	18	36925042	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.49171090176541E-4	.
18	34505006	G	A	18	36925043	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	1.71490898965315E-4	.
18	34505006	G	C	18	36925043	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	1.54728673155335E-4	.
18	34505006	G	T	18	36925043	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	1.71490898965315E-4	.
18	34505007	T	A	18	36925044	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	6.22183571697349E-4	.
18	34505007	T	C	18	36925044	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	6.0962840980205E-4	.
18	34505007	T	G	18	36925044	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	6.0962840980205E-4	.
18	34505008	A	C	18	36925045	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.20331566045996E-4	.
18	34505008	A	G	18	36925045	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.20331566045996E-4	.
18	34505008	A	T	18	36925045	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.20331566045996E-4	.
18	34505009	A	C	18	36925046	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.27966244059783E-4	.
18	34505009	A	G	18	36925046	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.27966244059783E-4	.
18	34505009	A	T	18	36925046	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.27966244059783E-4	.
18	34505010	G	A	18	36925047	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0167320331554808	.
18	34505010	G	C	18	36925047	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0167320331554808	.
18	34505010	G	T	18	36925047	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0167320331554808	.
18	34505011	T	A	18	36925048	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.54194634626418E-4	.
18	34505011	T	C	18	36925048	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.54194634626418E-4	.
18	34505011	T	G	18	36925048	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.54194634626418E-4	.
18	34505012	T	A	18	36925049	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.54194634626418E-4	.
18	34505012	T	C	18	36925049	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.54194634626418E-4	.
18	34505012	T	G	18	36925049	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.54194634626418E-4	.
18	34505013	A	C	18	36925050	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.99547661285162E-4	.
18	34505013	A	G	18	36925050	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.99547661285162E-4	.
18	34505013	A	T	18	36925050	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.99547661285162E-4	.
18	34526200	A	C	18	36946237	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.23369615463233E-4	.
18	34526200	A	G	18	36946237	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.23369615463233E-4	.
18	34526200	A	T	18	36946237	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.23369615463233E-4	.
18	34526201	A	C	18	36946238	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.23369615463233E-4	.
18	34526201	A	G	18	36946238	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.23369615463233E-4	.
18	34526201	A	T	18	36946238	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.23369615463233E-4	.
18	34526202	A	C	18	36946239	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0579465287530355	.
18	34526202	A	G	18	36946239	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0579465287530355	.
18	34526202	A	T	18	36946239	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0604485060661184	.
18	34526203	C	A	18	36946240	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.18835287328137E-4	.
18	34526203	C	G	18	36946240	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.18835287328137E-4	.
18	34526203	C	T	18	36946240	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.43912128371876E-4	.
18	34526204	A	C	18	36946241	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00179554631626197	.
18	34526204	A	G	18	36946241	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00179554631626197	.
18	34526204	A	T	18	36946241	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00179554631626197	.
18	34526205	A	C	18	36946242	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.76793598905423E-4	.
18	34526205	A	G	18	36946242	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.76793598905423E-4	.
18	34526205	A	T	18	36946242	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.54084234946473E-4	.
18	34526206	A	C	18	36946243	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.36530165208398E-4	.
18	34526206	A	G	18	36946243	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.83869994538364E-4	.
18	34526206	A	T	18	36946243	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.36530165208398E-4	.
18	34526207	A	C	18	36946244	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00358511912958845	.
18	34526207	A	G	18	36946244	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00358511912958845	.
18	34526207	A	T	18	36946244	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00363159866012653	.
18	34526208	A	C	18	36946245	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.22933412601844E-5	.
18	34526208	A	G	18	36946245	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.46580107145863E-5	.
18	34526208	A	T	18	36946245	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.73703069662487E-5	.
18	34526209	C	A	18	36946246	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.91998510824054E-4	.
18	34526209	C	G	18	36946246	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.91998510824054E-4	.
18	34526209	C	T	18	36946246	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.91998510824054E-4	.
18	34526210	A	C	18	36946247	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	6.37969708725054E-4	.
18	34526210	A	G	18	36946247	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	6.37969708725054E-4	.
18	34526210	A	T	18	36946247	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.00109807073928539	.
18	34526211	G	A	18	36946248	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	3.68533033798257E-4	.
18	34526211	G	C	18	36946248	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	3.68533033798257E-4	.
18	34526211	G	T	18	36946248	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	3.68533033798257E-4	.
18	34526212	T	A	18	36946249	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00109807073928539	.
18	34526212	T	C	18	36946249	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	9.87826639712179E-4	.
18	34526212	T	G	18	36946249	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	9.87826639712179E-4	.
18	34526213	T	A	18	36946250	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0014503035235291	.
18	34526213	T	C	18	36946250	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00109807073928539	.
18	34526213	T	G	18	36946250	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00109807073928539	.
18	34526478	C	A	18	36946515	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	4.75536505854613E-4	.
18	34526478	C	G	18	36946515	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.6168450971233E-4	.
18	34526478	C	T	18	36946515	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	4.31281783678032E-4	.
18	34526479	A	C	18	36946516	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	8.66596871451991E-4	.
18	34526479	A	G	18	36946516	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	8.66596871451991E-4	.
18	34526479	A	T	18	36946516	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	8.66596871451991E-4	.
18	34526480	G	A	18	36946517	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	5.67337160325179E-4	.
18	34526480	G	C	18	36946517	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	7.13338809129129E-4	.
18	34526480	G	T	18	36946517	n	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	5.67337160325179E-4	.
18	34526481	G	A	18	36946518	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	5.0944356912758E-4	.
18	34526481	G	C	18	36946518	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	2.80347613202621E-4	.
18	34526481	G	T	18	36946518	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	2.80347613202621E-4	.
18	34526482	T	A	18	36946519	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0143423886302461	.
18	34526482	T	C	18	36946519	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0143423886302461	.
18	34526482	T	G	18	36946519	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477	.	.	0.0143423886302461	.
18	34526483	A	C	18	36946520	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.57848743759651E-5	.
18	34526483	A	G	18	36946520	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.57848743759651E-5	.
18	34526483	A	T	18	36946520	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.74189810856028E-4	.
18	34526484	A	C	18	36946521	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.30606227842152E-4	.
18	34526484	A	G	18	36946521	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.30606227842152E-4	.
18	34526484	A	T	18	36946521	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.6518921204212E-4	.
18	34526485	T	A	18	36946522	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00160982491002213	.
18	34526485	T	C	18	36946522	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00202356287129307	.
18	34526485	T	G	18	36946522	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00202356287129307	.
18	34526486	T	A	18	36946523	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00202356287129307	.
18	34526486	T	C	18	36946523	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00122858649860219	.
18	34526486	T	G	18	36946523	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00223084022438657	.
18	34526487	C	A	18	36946524	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.99856836708372E-5	.
18	34526487	C	G	18	36946524	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.99856836708372E-5	.
18	34526487	C	T	18	36946524	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.99856836708372E-5	.
18	34526488	T	A	18	36946525	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.71322739585844E-5	.
18	34526488	T	C	18	36946525	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.71322739585844E-5	.
18	34526488	T	G	18	36946525	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.71322739585844E-5	.
18	34539263	A	C	18	36959300	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.19161160280666E-4	.
18	34539263	A	G	18	36959300	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.19161160280666E-4	.
18	34539263	A	T	18	36959300	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.67864249577553E-4	.
18	34539264	A	C	18	36959301	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00190159581217126	.
18	34539264	A	G	18	36959301	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00190159581217126	.
18	34539264	A	T	18	36959301	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00221846213407212	.
18	34539265	T	A	18	36959302	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00353365785118524	.
18	34539265	T	C	18	36959302	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0037726264859338	.
18	34539265	T	G	18	36959302	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0037726264859338	.
18	34539266	C	A	18	36959303	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0437225616395917	.
18	34539266	C	G	18	36959303	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0641063009534076	.
18	34539266	C	T	18	36959303	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0437225616395917	.
18	34539267	T	A	18	36959304	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0110548169826746	.
18	34539267	T	C	18	36959304	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0128769731291534	.
18	34539267	T	G	18	36959304	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0128769731291534	.
18	34539268	C	A	18	36959305	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.66515841197446E-4	.
18	34539268	C	G	18	36959305	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.75199384985634E-4	.
18	34539268	C	T	18	36959305	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.68637993761178E-4	.
18	34539269	A	C	18	36959306	y	y	splicing	KIAA1328(NM_020776:exon6:c.449-2A>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.125-2A>C;ENST00000592611:exon5:c.354-2A>C;ENST00000280020:exon6:c.449-2A>C;ENST00000590617:exon5:c.354-2A>C;ENST00000587139:exon4:c.412-2A>C;ENST00000591619:exon6:c.437-2A>C)	.	.	0.997736741990359	.
18	34539269	A	G	18	36959306	y	y	splicing	KIAA1328(NM_020776:exon6:c.449-2A>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.125-2A>G;ENST00000592611:exon5:c.354-2A>G;ENST00000280020:exon6:c.449-2A>G;ENST00000590617:exon5:c.354-2A>G;ENST00000587139:exon4:c.412-2A>G;ENST00000591619:exon6:c.437-2A>G)	.	.	0.997736741990359	.
18	34539269	A	T	18	36959306	y	y	splicing	KIAA1328(NM_020776:exon6:c.449-2A>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.125-2A>T;ENST00000592611:exon5:c.354-2A>T;ENST00000280020:exon6:c.449-2A>T;ENST00000590617:exon5:c.354-2A>T;ENST00000587139:exon4:c.412-2A>T;ENST00000591619:exon6:c.437-2A>T)	.	.	0.997077652618571	.
18	34539270	C	A	18	36959307	y	y	splicing	KIAA1328(NM_020776:exon6:c.449-1C>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.125-1C>A;ENST00000592611:exon5:c.354-1C>A;ENST00000280020:exon6:c.449-1C>A;ENST00000590617:exon5:c.354-1C>A;ENST00000587139:exon4:c.412-1C>A;ENST00000591619:exon6:c.437-1C>A)	.	.	0.999488776013081	.
18	34539270	C	G	18	36959307	y	y	splicing	KIAA1328(NM_020776:exon6:c.449-1C>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.125-1C>G;ENST00000592611:exon5:c.354-1C>G;ENST00000280020:exon6:c.449-1C>G;ENST00000590617:exon5:c.354-1C>G;ENST00000587139:exon4:c.412-1C>G;ENST00000591619:exon6:c.437-1C>G)	.	.	0.999604290336243	.
18	34539270	C	T	18	36959307	y	y	splicing	KIAA1328(NM_020776:exon6:c.449-1C>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.125-1C>T;ENST00000592611:exon5:c.354-1C>T;ENST00000280020:exon6:c.449-1C>T;ENST00000590617:exon5:c.354-1C>T;ENST00000587139:exon4:c.412-1C>T;ENST00000591619:exon6:c.437-1C>T)	.	.	0.999488776013081	.
18	34539271	C	A	18	36959308	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.C449A:p.A150D;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.C449A:p.A150D;ENSG00000150477:ENST00000591619:exon6:c.C437A:p.A146D;ENSG00000150477:ENST00000543923:exon5:c.C125A:p.A42D;	0.392467839441017	.
18	34539271	C	G	18	36959308	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.C449G:p.A150G;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.C449G:p.A150G;ENSG00000150477:ENST00000591619:exon6:c.C437G:p.A146G;ENSG00000150477:ENST00000543923:exon5:c.C125G:p.A42G;	0.987289539064202	.
18	34539271	C	T	18	36959308	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.C449T:p.A150V;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.C449T:p.A150V;ENSG00000150477:ENST00000591619:exon6:c.C437T:p.A146V;ENSG00000150477:ENST00000543923:exon5:c.C125T:p.A42V;	0.999500491899384	.
18	34539272	T	A	18	36959309	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon6:c.T450A:p.A150A;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.T450A:p.A150A;ENSG00000150477:ENST00000591619:exon6:c.T438A:p.A146A;ENSG00000150477:ENST00000543923:exon5:c.T126A:p.A42A;	0.825949399302173	.
18	34539272	T	C	18	36959309	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon6:c.T450C:p.A150A;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.T450C:p.A150A;ENSG00000150477:ENST00000591619:exon6:c.T438C:p.A146A;ENSG00000150477:ENST00000543923:exon5:c.T126C:p.A42A;	0.451480224577353	.
18	34539272	T	G	18	36959309	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon6:c.T450G:p.A150A;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.T450G:p.A150A;ENSG00000150477:ENST00000591619:exon6:c.T438G:p.A146A;ENSG00000150477:ENST00000543923:exon5:c.T126G:p.A42A;	0.451480224577353	.
18	34539273	C	A	18	36959310	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.C451A:p.L151I;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.C451A:p.L151I;ENSG00000150477:ENST00000591619:exon6:c.C439A:p.L147I;ENSG00000150477:ENST00000543923:exon5:c.C127A:p.L43I;	0.470250079608912	.
18	34539273	C	G	18	36959310	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.C451G:p.L151V;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.C451G:p.L151V;ENSG00000150477:ENST00000591619:exon6:c.C439G:p.L147V;ENSG00000150477:ENST00000543923:exon5:c.C127G:p.L43V;	0.976472790290742	.
18	34539273	C	T	18	36959310	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.C451T:p.L151F;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.C451T:p.L151F;ENSG00000150477:ENST00000591619:exon6:c.C439T:p.L147F;ENSG00000150477:ENST00000543923:exon5:c.C127T:p.L43F;	0.999671965128533	.
18	34539396	C	A	18	36959433	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.C574A:p.Q192K;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.C574A:p.Q192K;ENSG00000150477:ENST00000591619:exon6:c.C562A:p.Q188K;ENSG00000150477:ENST00000543923:exon5:c.C250A:p.Q84K;	0.099379091091272	0.288
18	34539396	C	G	18	36959433	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.C574G:p.Q192E;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.C574G:p.Q192E;ENSG00000150477:ENST00000591619:exon6:c.C562G:p.Q188E;ENSG00000150477:ENST00000543923:exon5:c.C250G:p.Q84E;	0.913892863005387	0.582
18	34539396	C	T	18	36959433	y	y	exonic	KIAA1328	stopgain SNV	KIAA1328:NM_020776:exon6:c.C574T:p.Q192X;	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000280020:exon6:c.C574T:p.Q192X;ENSG00000150477:ENST00000591619:exon6:c.C562T:p.Q188X;ENSG00000150477:ENST00000543923:exon5:c.C250T:p.Q84X;	0.998517993334677	0.738
18	34539397	A	C	18	36959434	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.A575C:p.Q192P;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.A575C:p.Q192P;ENSG00000150477:ENST00000591619:exon6:c.A563C:p.Q188P;ENSG00000150477:ENST00000543923:exon5:c.A251C:p.Q84P;	0.992975419821471	0.844
18	34539397	A	G	18	36959434	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.A575G:p.Q192R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.A575G:p.Q192R;ENSG00000150477:ENST00000591619:exon6:c.A563G:p.Q188R;ENSG00000150477:ENST00000543923:exon5:c.A251G:p.Q84R;	0.996346603977012	0.956
18	34539397	A	T	18	36959434	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.A575T:p.Q192L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.A575T:p.Q192L;ENSG00000150477:ENST00000591619:exon6:c.A563T:p.Q188L;ENSG00000150477:ENST00000543923:exon5:c.A251T:p.Q84L;	0.990706910086378	0.608
18	34539398	G	A	18	36959435	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon6:c.G576A:p.Q192Q;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.G576A:p.Q192Q;ENSG00000150477:ENST00000591619:exon6:c.G564A:p.Q188Q;ENSG00000150477:ENST00000543923:exon5:c.G252A:p.Q84Q;	0.999313887259927	0.866
18	34539398	G	C	18	36959435	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.G576C:p.Q192H;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.G576C:p.Q192H;ENSG00000150477:ENST00000591619:exon6:c.G564C:p.Q188H;ENSG00000150477:ENST00000543923:exon5:c.G252C:p.Q84H;	0.999932746366757	0.932
18	34539398	G	T	18	36959435	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon6:c.G576T:p.Q192H;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon6:c.G576T:p.Q192H;ENSG00000150477:ENST00000591619:exon6:c.G564T:p.Q188H;ENSG00000150477:ENST00000543923:exon5:c.G252T:p.Q84H;	0.999914617421195	0.966
18	34539399	G	A	18	36959436	y	y	splicing	KIAA1328(NM_020776:exon6:c.576+1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.252+1G>A;ENST00000592611:exon5:c.481+1G>A;ENST00000280020:exon6:c.576+1G>A;ENST00000590617:exon5:c.481+1G>A;ENST00000587139:exon4:c.539+1G>A;ENST00000591619:exon6:c.564+1G>A)	.	.	0.999990361384395	0.938
18	34539399	G	C	18	36959436	y	y	splicing	KIAA1328(NM_020776:exon6:c.576+1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.252+1G>C;ENST00000592611:exon5:c.481+1G>C;ENST00000280020:exon6:c.576+1G>C;ENST00000590617:exon5:c.481+1G>C;ENST00000587139:exon4:c.539+1G>C;ENST00000591619:exon6:c.564+1G>C)	.	.	0.999990361384395	0.938
18	34539399	G	T	18	36959436	y	y	splicing	KIAA1328(NM_020776:exon6:c.576+1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.252+1G>T;ENST00000592611:exon5:c.481+1G>T;ENST00000280020:exon6:c.576+1G>T;ENST00000590617:exon5:c.481+1G>T;ENST00000587139:exon4:c.539+1G>T;ENST00000591619:exon6:c.564+1G>T)	.	.	0.999990361384395	0.938
18	34539400	T	A	18	36959437	y	y	splicing	KIAA1328(NM_020776:exon6:c.576+2T>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.252+2T>A;ENST00000592611:exon5:c.481+2T>A;ENST00000280020:exon6:c.576+2T>A;ENST00000590617:exon5:c.481+2T>A;ENST00000587139:exon4:c.539+2T>A;ENST00000591619:exon6:c.564+2T>A)	.	.	0.999988247793601	0.932
18	34539400	T	C	18	36959437	y	y	splicing	KIAA1328(NM_020776:exon6:c.576+2T>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.252+2T>C;ENST00000592611:exon5:c.481+2T>C;ENST00000280020:exon6:c.576+2T>C;ENST00000590617:exon5:c.481+2T>C;ENST00000587139:exon4:c.539+2T>C;ENST00000591619:exon6:c.564+2T>C)	.	.	0.99340600729494	0.716
18	34539400	T	G	18	36959437	y	y	splicing	KIAA1328(NM_020776:exon6:c.576+2T>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon5:c.252+2T>G;ENST00000592611:exon5:c.481+2T>G;ENST00000280020:exon6:c.576+2T>G;ENST00000590617:exon5:c.481+2T>G;ENST00000587139:exon4:c.539+2T>G;ENST00000591619:exon6:c.564+2T>G)	.	.	0.999988247793601	0.932
18	34539401	A	C	18	36959438	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.998443440741286	0.946
18	34539401	A	G	18	36959438	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.809752995611474	0.436
18	34539401	A	T	18	36959438	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.995204667645361	0.918
18	34539402	A	C	18	36959439	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.964027240392753	0.8
18	34539402	A	G	18	36959439	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.978992745849353	0.824
18	34539402	A	T	18	36959439	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.973495243696186	0.846
18	34539403	G	A	18	36959440	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999796779635446	0.84
18	34539403	G	C	18	36959440	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.988251810872238	0.766
18	34539403	G	T	18	36959440	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999725952021298	0.712
18	34539404	C	A	18	36959441	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.60506249160136E-4	0.03
18	34539404	C	G	18	36959441	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.37958313063368E-4	0.046
18	34539404	C	T	18	36959441	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.40070549067673E-5	0.004
18	34539405	A	C	18	36959442	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.05923468377003E-4	0.01
18	34539405	A	G	18	36959442	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.05923468377003E-4	0.012
18	34539405	A	T	18	36959442	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.32838984029637E-5	0.022
18	34539406	T	A	18	36959443	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.44682472353823E-4	0.0
18	34539406	T	C	18	36959443	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.05309614883202E-4	0.0
18	34539406	T	G	18	36959443	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.05309614883202E-4	0.0
18	34646841	G	A	18	37066878	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.99547271196267	0.92
18	34646841	G	C	18	37066878	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	5.84565860854414E-5	0.002
18	34646841	G	T	18	37066878	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	6.32513385044182E-5	0.016
18	34646842	G	A	18	37066879	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.39519969923346E-4	0.006
18	34646842	G	C	18	37066879	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	5.6792666923673E-5	0.0
18	34646842	G	T	18	37066879	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	5.64526560328462E-5	0.006
18	34646843	T	A	18	37066880	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0730619998375451	0.466
18	34646843	T	C	18	37066880	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.80206180643497E-4	0.062
18	34646843	T	G	18	37066880	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0128889395221896	0.326
18	34646844	T	A	18	37066881	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.115003751243832	0.452
18	34646844	T	C	18	37066881	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00126883867415537	0.018
18	34646844	T	G	18	37066881	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0478367265905256	0.348
18	34646845	C	A	18	37066882	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	9.03353648836221E-4	0.048
18	34646845	C	G	18	37066882	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.76926915070197E-4	0.034
18	34646845	C	T	18	37066882	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	8.92848294793301E-5	0.002
18	34646846	T	A	18	37066883	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00472316555307844	0.158
18	34646846	T	C	18	37066883	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.3914153850657E-4	0.0
18	34646846	T	G	18	37066883	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.00232752346183057	0.142
18	34646847	T	A	18	37066884	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0468794067431615	0.402
18	34646847	T	C	18	37066884	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	3.26621356851682E-4	0.032
18	34646847	T	G	18	37066884	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.232336525852691	0.516
18	34646848	T	A	18	37066885	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.213174756186652	0.54
18	34646848	T	C	18	37066885	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0102375267480014	0.064
18	34646848	T	G	18	37066885	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.489591497636742	0.558
18	34646849	C	A	18	37066886	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	1.05791394935564E-4	0.012
18	34646849	C	G	18	37066886	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	2.4098292368848E-4	0.046
18	34646849	C	T	18	37066886	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	8.4416816106281E-5	0.004
18	34646850	T	A	18	37066887	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.0044651186593627	0.166
18	34646850	T	C	18	37066887	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	9.92135706894836E-5	0.004
18	34646850	T	G	18	37066887	y	y	intronic	KIAA1328	.	.	UTR5	ENSG00000150477	.	.	0.978743837603079	0.632
18	34646851	A	C	18	37066888	y	y	splicing	KIAA1328(NM_020776:exon7:c.577-2A>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.253-2A>C;ENST00000592611:exon6:c.482-2A>C;ENST00000280020:exon7:c.577-2A>C;ENST00000590617:exon6:c.482-2A>C;ENST00000587139:exon5:c.540-2A>C;ENST00000591619:exon7:c.565-2A>C)	.	.	0.999988247793601	0.932
18	34646851	A	G	18	37066888	y	y	splicing	KIAA1328(NM_020776:exon7:c.577-2A>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.253-2A>G;ENST00000592611:exon6:c.482-2A>G;ENST00000280020:exon7:c.577-2A>G;ENST00000590617:exon6:c.482-2A>G;ENST00000587139:exon5:c.540-2A>G;ENST00000591619:exon7:c.565-2A>G)	.	.	0.999988247793601	0.932
18	34646851	A	T	18	37066888	y	y	splicing	KIAA1328(NM_020776:exon7:c.577-2A>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.253-2A>T;ENST00000592611:exon6:c.482-2A>T;ENST00000280020:exon7:c.577-2A>T;ENST00000590617:exon6:c.482-2A>T;ENST00000587139:exon5:c.540-2A>T;ENST00000591619:exon7:c.565-2A>T)	.	.	0.999988247793601	0.932
18	34646852	G	A	18	37066889	y	y	splicing	KIAA1328(NM_020776:exon7:c.577-1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.253-1G>A;ENST00000592611:exon6:c.482-1G>A;ENST00000280020:exon7:c.577-1G>A;ENST00000590617:exon6:c.482-1G>A;ENST00000587139:exon5:c.540-1G>A;ENST00000591619:exon7:c.565-1G>A)	.	.	0.999990361384395	0.938
18	34646852	G	C	18	37066889	y	y	splicing	KIAA1328(NM_020776:exon7:c.577-1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.253-1G>C;ENST00000592611:exon6:c.482-1G>C;ENST00000280020:exon7:c.577-1G>C;ENST00000590617:exon6:c.482-1G>C;ENST00000587139:exon5:c.540-1G>C;ENST00000591619:exon7:c.565-1G>C)	.	.	0.999990361384395	0.938
18	34646852	G	T	18	37066889	y	y	splicing	KIAA1328(NM_020776:exon7:c.577-1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.253-1G>T;ENST00000592611:exon6:c.482-1G>T;ENST00000280020:exon7:c.577-1G>T;ENST00000590617:exon6:c.482-1G>T;ENST00000587139:exon5:c.540-1G>T;ENST00000591619:exon7:c.565-1G>T)	.	.	0.999990361384395	0.938
18	34646853	G	A	18	37066890	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.G577A:p.V193I;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.G577A:p.V193I;ENSG00000150477:ENST00000591619:exon7:c.G565A:p.V189I;ENSG00000150477:ENST00000543923:exon6:c.G253A:p.V85I;	9.53213230017063E-4	0.164
18	34646853	G	C	18	37066890	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.G577C:p.V193L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.G577C:p.V193L;ENSG00000150477:ENST00000591619:exon7:c.G565C:p.V189L;ENSG00000150477:ENST00000543923:exon6:c.G253C:p.V85L;	0.00553964442535205	0.406
18	34646853	G	T	18	37066890	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.G577T:p.V193L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.G577T:p.V193L;ENSG00000150477:ENST00000591619:exon7:c.G565T:p.V189L;ENSG00000150477:ENST00000543923:exon6:c.G253T:p.V85L;	0.410707766422065	0.514
18	34646854	T	A	18	37066891	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.T578A:p.V193E;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T578A:p.V193E;ENSG00000150477:ENST00000591619:exon7:c.T566A:p.V189E;ENSG00000150477:ENST00000543923:exon6:c.T254A:p.V85E;	3.27069404483981E-5	0.02
18	34646854	T	C	18	37066891	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.T578C:p.V193A;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T578C:p.V193A;ENSG00000150477:ENST00000591619:exon7:c.T566C:p.V189A;ENSG00000150477:ENST00000543923:exon6:c.T254C:p.V85A;	2.20090177691109E-4	0.028
18	34646854	T	G	18	37066891	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.T578G:p.V193G;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T578G:p.V193G;ENSG00000150477:ENST00000591619:exon7:c.T566G:p.V189G;ENSG00000150477:ENST00000543923:exon6:c.T254G:p.V85G;	2.61217714290733E-5	0.02
18	34647506	T	A	18	37067543	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.T1230A:p.N410K;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T1230A:p.N410K;ENSG00000150477:ENST00000586501:exon1:c.T378A:p.N126K;ENSG00000150477:ENST00000435985:exon7:c.T378A:p.N126K;ENSG00000150477:ENST00000586135:exon4:c.T378A:p.N126K;ENSG00000150477:ENST00000591619:exon7:c.T1218A:p.N406K;ENSG00000150477:ENST00000543923:exon6:c.T906A:p.N302K;	2.34394904281236E-5	0.038
18	34647506	T	C	18	37067543	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon7:c.T1230C:p.N410N;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T1230C:p.N410N;ENSG00000150477:ENST00000586501:exon1:c.T378C:p.N126N;ENSG00000150477:ENST00000435985:exon7:c.T378C:p.N126N;ENSG00000150477:ENST00000586135:exon4:c.T378C:p.N126N;ENSG00000150477:ENST00000591619:exon7:c.T1218C:p.N406N;ENSG00000150477:ENST00000543923:exon6:c.T906C:p.N302N;	2.54330209896408E-5	0.0
18	34647506	T	G	18	37067543	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.T1230G:p.N410K;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T1230G:p.N410K;ENSG00000150477:ENST00000586501:exon1:c.T378G:p.N126K;ENSG00000150477:ENST00000435985:exon7:c.T378G:p.N126K;ENSG00000150477:ENST00000586135:exon4:c.T378G:p.N126K;ENSG00000150477:ENST00000591619:exon7:c.T1218G:p.N406K;ENSG00000150477:ENST00000543923:exon6:c.T906G:p.N302K;	1.6162093785314E-4	0.084
18	34647507	T	A	18	37067544	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.T1231A:p.C411S;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T1231A:p.C411S;ENSG00000150477:ENST00000586501:exon1:c.T379A:p.C127S;ENSG00000150477:ENST00000435985:exon7:c.T379A:p.W127R;ENSG00000150477:ENST00000586135:exon4:c.T379A:p.W127R;ENSG00000150477:ENST00000591619:exon7:c.T1219A:p.C407S;ENSG00000150477:ENST00000543923:exon6:c.T907A:p.C303S;	3.50939044036016E-4	0.13
18	34647507	T	C	18	37067544	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.T1231C:p.C411R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T1231C:p.C411R;ENSG00000150477:ENST00000586501:exon1:c.T379C:p.C127R;ENSG00000150477:ENST00000435985:exon7:c.T379C:p.W127R;ENSG00000150477:ENST00000586135:exon4:c.T379C:p.W127R;ENSG00000150477:ENST00000591619:exon7:c.T1219C:p.C407R;ENSG00000150477:ENST00000543923:exon6:c.T907C:p.C303R;	1.41218526881869E-4	0.048
18	34647507	T	G	18	37067544	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.T1231G:p.C411G;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.T1231G:p.C411G;ENSG00000150477:ENST00000586501:exon1:c.T379G:p.C127G;ENSG00000150477:ENST00000435985:exon7:c.T379G:p.W127G;ENSG00000150477:ENST00000586135:exon4:c.T379G:p.W127G;ENSG00000150477:ENST00000591619:exon7:c.T1219G:p.C407G;ENSG00000150477:ENST00000543923:exon6:c.T907G:p.C303G;	0.0107461912193855	0.148
18	34647508	G	A	18	37067545	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.G1232A:p.C411Y;	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000435985:exon7:c.G380A:p.W127X;ENSG00000150477:ENST00000586135:exon4:c.G380A:p.W127X;	0.999992910490447	0.96
18	34647508	G	C	18	37067545	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.G1232C:p.C411S;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.G1232C:p.C411S;ENSG00000150477:ENST00000586501:exon1:c.G380C:p.C127S;ENSG00000150477:ENST00000435985:exon7:c.G380C:p.W127S;ENSG00000150477:ENST00000586135:exon4:c.G380C:p.W127S;ENSG00000150477:ENST00000591619:exon7:c.G1220C:p.C407S;ENSG00000150477:ENST00000543923:exon6:c.G908C:p.C303S;	0.999880360287397	0.888
18	34647508	G	T	18	37067545	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon7:c.G1232T:p.C411F;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon7:c.G1232T:p.C411F;ENSG00000150477:ENST00000586501:exon1:c.G380T:p.C127F;ENSG00000150477:ENST00000435985:exon7:c.G380T:p.W127L;ENSG00000150477:ENST00000586135:exon4:c.G380T:p.W127L;ENSG00000150477:ENST00000591619:exon7:c.G1220T:p.C407F;ENSG00000150477:ENST00000543923:exon6:c.G908T:p.C303F;	0.999987431080425	0.986
18	34647509	G	A	18	37067546	y	y	splicing	KIAA1328(NM_020776:exon7:c.1232+1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.908+1G>A;ENST00000592611:exon6:c.1137+1G>A;ENST00000435985:exon7:c.380+1G>A;ENST00000280020:exon7:c.1232+1G>A;ENST00000590617:exon6:c.1137+1G>A;ENST00000587139:exon5:c.1195+1G>A;ENST00000591619:exon7:c.1220+1G>A;ENST00000586135:exon4:c.380+1G>A;ENST00000586501:exon1:c.380+1G>A)	.	.	0.999990361384395	0.938
18	34647509	G	C	18	37067546	y	y	splicing	KIAA1328(NM_020776:exon7:c.1232+1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.908+1G>C;ENST00000592611:exon6:c.1137+1G>C;ENST00000435985:exon7:c.380+1G>C;ENST00000280020:exon7:c.1232+1G>C;ENST00000590617:exon6:c.1137+1G>C;ENST00000587139:exon5:c.1195+1G>C;ENST00000591619:exon7:c.1220+1G>C;ENST00000586135:exon4:c.380+1G>C;ENST00000586501:exon1:c.380+1G>C)	.	.	0.999990361384395	0.938
18	34647509	G	T	18	37067546	y	y	splicing	KIAA1328(NM_020776:exon7:c.1232+1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.908+1G>T;ENST00000592611:exon6:c.1137+1G>T;ENST00000435985:exon7:c.380+1G>T;ENST00000280020:exon7:c.1232+1G>T;ENST00000590617:exon6:c.1137+1G>T;ENST00000587139:exon5:c.1195+1G>T;ENST00000591619:exon7:c.1220+1G>T;ENST00000586135:exon4:c.380+1G>T;ENST00000586501:exon1:c.380+1G>T)	.	.	0.999990361384395	0.938
18	34647510	T	A	18	37067547	y	y	splicing	KIAA1328(NM_020776:exon7:c.1232+2T>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.908+2T>A;ENST00000592611:exon6:c.1137+2T>A;ENST00000435985:exon7:c.380+2T>A;ENST00000280020:exon7:c.1232+2T>A;ENST00000590617:exon6:c.1137+2T>A;ENST00000587139:exon5:c.1195+2T>A;ENST00000591619:exon7:c.1220+2T>A;ENST00000586135:exon4:c.380+2T>A;ENST00000586501:exon1:c.380+2T>A)	.	.	0.999988247793601	0.932
18	34647510	T	C	18	37067547	y	y	splicing	KIAA1328(NM_020776:exon7:c.1232+2T>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.908+2T>C;ENST00000592611:exon6:c.1137+2T>C;ENST00000435985:exon7:c.380+2T>C;ENST00000280020:exon7:c.1232+2T>C;ENST00000590617:exon6:c.1137+2T>C;ENST00000587139:exon5:c.1195+2T>C;ENST00000591619:exon7:c.1220+2T>C;ENST00000586135:exon4:c.380+2T>C;ENST00000586501:exon1:c.380+2T>C)	.	.	0.999945827492243	0.86
18	34647510	T	G	18	37067547	y	y	splicing	KIAA1328(NM_020776:exon7:c.1232+2T>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon6:c.908+2T>G;ENST00000592611:exon6:c.1137+2T>G;ENST00000435985:exon7:c.380+2T>G;ENST00000280020:exon7:c.1232+2T>G;ENST00000590617:exon6:c.1137+2T>G;ENST00000587139:exon5:c.1195+2T>G;ENST00000591619:exon7:c.1220+2T>G;ENST00000586135:exon4:c.380+2T>G;ENST00000586501:exon1:c.380+2T>G)	.	.	0.999988247793601	0.932
18	34647511	G	A	18	37067548	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00130934325872935	0.022
18	34647511	G	C	18	37067548	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.975057001026266	0.614
18	34647511	G	T	18	37067548	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.900416039015375	0.546
18	34647512	A	C	18	37067549	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.940285566600156	0.74
18	34647512	A	G	18	37067549	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.990254098884222	0.694
18	34647512	A	T	18	37067549	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.997286822265532	0.792
18	34647513	G	A	18	37067550	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999968326192111	0.962
18	34647513	G	C	18	37067550	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.99999061897068	0.974
18	34647513	G	T	18	37067550	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999964076087979	0.92
18	34647514	T	A	18	37067551	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.773369043704999	0.464
18	34647514	T	C	18	37067551	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.68892737567889	0.336
18	34647514	T	G	18	37067551	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.220464516717921	0.376
18	34647515	A	C	18	37067552	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.18963898488545E-4	0.028
18	34647515	A	G	18	37067552	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.22949578515347E-4	0.014
18	34647515	A	T	18	37067552	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.20313200750862E-4	0.002
18	34647516	C	A	18	37067553	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.76718008894688E-5	0.006
18	34647516	C	G	18	37067553	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.76718008894688E-5	0.0
18	34647516	C	T	18	37067553	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.48331076810124E-4	0.014
18	34654703	T	A	18	37074740	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654703	T	C	18	37074740	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654703	T	G	18	37074740	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654704	T	A	18	37074741	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654704	T	C	18	37074741	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654704	T	G	18	37074741	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654705	C	A	18	37074742	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.99571408646036E-5	0.0
18	34654705	C	G	18	37074742	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.99571408646036E-5	0.0
18	34654705	C	T	18	37074742	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654706	C	A	18	37074743	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.99571408646036E-5	0.0
18	34654706	C	G	18	37074743	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.99571408646036E-5	0.0
18	34654706	C	T	18	37074743	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654707	T	A	18	37074744	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654707	T	C	18	37074744	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654707	T	G	18	37074744	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654708	C	A	18	37074745	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654708	C	G	18	37074745	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.99571408646036E-5	0.0
18	34654708	C	T	18	37074745	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654709	C	A	18	37074746	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654709	C	G	18	37074746	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.99571408646036E-5	0.0
18	34654709	C	T	18	37074746	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654710	T	A	18	37074747	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654710	T	C	18	37074747	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654710	T	G	18	37074747	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654711	G	A	18	37074748	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654711	G	C	18	37074748	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.99571408646036E-5	0.0
18	34654711	G	T	18	37074748	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654712	T	A	18	37074749	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654712	T	C	18	37074749	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654712	T	G	18	37074749	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.18551054981151E-5	0.0
18	34654713	A	C	18	37074750	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586501:exon2:c.381-2A>C)	.	.	2.18551054981151E-5	0.0
18	34654713	A	G	18	37074750	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586501:exon2:c.381-2A>G)	.	.	2.18551054981151E-5	0.0
18	34654713	A	T	18	37074750	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586501:exon2:c.381-2A>T)	.	.	2.18551054981151E-5	0.0
18	34654714	G	A	18	37074751	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586501:exon2:c.381-1G>A)	.	.	2.18551054981151E-5	0.0
18	34654714	G	C	18	37074751	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586501:exon2:c.381-1G>C)	.	.	3.99571408646036E-5	0.0
18	34654714	G	T	18	37074751	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586501:exon2:c.381-1G>T)	.	.	2.18551054981151E-5	0.0
18	34654715	C	A	18	37074752	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000586501:exon2:c.C381A:p.C127X;	2.18551054981151E-5	0.0
18	34654715	C	G	18	37074752	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000586501:exon2:c.C381G:p.C127W;	3.99571408646036E-5	0.0
18	34654715	C	T	18	37074752	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000586501:exon2:c.C381T:p.C127C;	2.18551054981151E-5	0.0
18	34654716	T	A	18	37074753	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000586501:exon2:c.T382A:p.S128T;	2.18551054981151E-5	0.0
18	34654716	T	C	18	37074753	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000586501:exon2:c.T382C:p.S128P;	2.18551054981151E-5	0.0
18	34654716	T	G	18	37074753	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000586501:exon2:c.T382G:p.S128A;	2.18551054981151E-5	0.0
18	34664076	T	A	18	37084113	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00166377527685182	0.0
18	34664076	T	C	18	37084113	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00131945519331178	0.002
18	34664076	T	G	18	37084113	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00131945519331178	0.002
18	34664077	A	C	18	37084114	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.54971370358553E-4	0.042
18	34664077	A	G	18	37084114	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.53880401659305E-4	0.04
18	34664077	A	T	18	37084114	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.54971370358553E-4	0.032
18	34664078	A	C	18	37084115	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.91219527972473E-5	0.0
18	34664078	A	G	18	37084115	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.91219527972473E-5	0.0
18	34664078	A	T	18	37084115	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.96592936074085E-5	0.0
18	34664079	T	A	18	37084116	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.40444999955203E-5	0.078
18	34664079	T	C	18	37084116	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.3329142584244E-5	0.036
18	34664079	T	G	18	37084116	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.3329142584244E-5	0.036
18	34664080	T	A	18	37084117	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00130773304317029	0.02
18	34664080	T	C	18	37084117	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.45051799337135E-4	0.002
18	34664080	T	G	18	37084117	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.45051799337135E-4	0.002
18	34664081	T	A	18	37084118	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.574421148523E-4	0.018
18	34664081	T	C	18	37084118	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.574421148523E-4	0.012
18	34664081	T	G	18	37084118	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.574421148523E-4	0.008
18	34664082	T	A	18	37084119	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0168882239558126	0.038
18	34664082	T	C	18	37084119	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0114128254886115	0.05
18	34664082	T	G	18	37084119	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0114128254886115	0.052
18	34664083	T	A	18	37084120	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0202636353389481	0.042
18	34664083	T	C	18	37084120	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0194585076026556	0.04
18	34664083	T	G	18	37084120	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0194585076026556	0.04
18	34664084	A	C	18	37084121	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.67601383604536E-5	0.002
18	34664084	A	G	18	37084121	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.67601383604536E-5	0.004
18	34664084	A	T	18	37084121	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.67601383604536E-5	0.002
18	34664085	C	A	18	37084122	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.1377241730735E-4	0.02
18	34664085	C	G	18	37084122	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.1377241730735E-4	0.018
18	34664085	C	T	18	37084122	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.1377241730735E-4	0.012
18	34664086	A	C	18	37084123	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.381-2A>C;ENST00000590617:exon7:c.1138-2A>C;ENST00000587139:exon6:c.1196-2A>C;ENST00000586135:exon5:c.381-2A>C)	.	.	0.9132707041682	0.648
18	34664086	A	G	18	37084123	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.381-2A>G;ENST00000590617:exon7:c.1138-2A>G;ENST00000587139:exon6:c.1196-2A>G;ENST00000586135:exon5:c.381-2A>G)	.	.	0.9132707041682	0.65
18	34664086	A	T	18	37084123	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.381-2A>T;ENST00000590617:exon7:c.1138-2A>T;ENST00000587139:exon6:c.1196-2A>T;ENST00000586135:exon5:c.381-2A>T)	.	.	0.9132707041682	0.648
18	34664087	G	A	18	37084124	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.381-1G>A;ENST00000590617:exon7:c.1138-1G>A;ENST00000587139:exon6:c.1196-1G>A;ENST00000586135:exon5:c.381-1G>A)	.	.	0.991862532680307	0.852
18	34664087	G	C	18	37084124	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.381-1G>C;ENST00000590617:exon7:c.1138-1G>C;ENST00000587139:exon6:c.1196-1G>C;ENST00000586135:exon5:c.381-1G>C)	.	.	0.992474646220614	0.852
18	34664087	G	T	18	37084124	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.381-1G>T;ENST00000590617:exon7:c.1138-1G>T;ENST00000587139:exon6:c.1196-1G>T;ENST00000586135:exon5:c.381-1G>T)	.	.	0.991862532680307	0.85
18	34664088	G	A	18	37084125	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000435985:exon8:c.G381A:p.W127X;ENSG00000150477:ENST00000586135:exon5:c.G381A:p.W127X;	0.99473635760537	0.952
18	34664088	G	C	18	37084125	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.G381C:p.W127C;ENSG00000150477:ENST00000586135:exon5:c.G381C:p.W127C;	0.983394749551851	0.856
18	34664088	G	T	18	37084125	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.G381T:p.W127C;ENSG00000150477:ENST00000586135:exon5:c.G381T:p.W127C;	0.991172541478441	0.86
18	34664089	T	A	18	37084126	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.T382A:p.L128I;ENSG00000150477:ENST00000586135:exon5:c.T382A:p.L128I;	0.040573781560022	0.214
18	34664089	T	C	18	37084126	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.T382C:p.L128L;ENSG00000150477:ENST00000586135:exon5:c.T382C:p.L128L;	0.00166377527685182	0.01
18	34664089	T	G	18	37084126	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.T382G:p.L128V;ENSG00000150477:ENST00000586135:exon5:c.T382G:p.L128V;	0.040573781560022	0.216
18	34664193	A	C	18	37084230	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.A486C:p.P162P;ENSG00000150477:ENST00000586135:exon5:c.A486C:p.P162P;	0.00156303703815206	0.0
18	34664193	A	G	18	37084230	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.A486G:p.P162P;ENSG00000150477:ENST00000586135:exon5:c.A486G:p.P162P;	0.00156303703815206	0.0
18	34664193	A	T	18	37084230	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.A486T:p.P162P;ENSG00000150477:ENST00000586135:exon5:c.A486T:p.P162P;	0.00141401962388693	0.0
18	34664194	A	C	18	37084231	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.A487C:p.S163R;ENSG00000150477:ENST00000586135:exon5:c.A487C:p.S163R;	0.913899696834546	0.704
18	34664194	A	G	18	37084231	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.A487G:p.S163G;ENSG00000150477:ENST00000586135:exon5:c.A487G:p.S163G;	0.0372776696030314	0.162
18	34664194	A	T	18	37084231	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.A487T:p.S163C;ENSG00000150477:ENST00000586135:exon5:c.A487T:p.S163C;	0.0150331040704963	0.03
18	34664195	G	A	18	37084232	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.G488A:p.S163N;ENSG00000150477:ENST00000586135:exon5:c.G488A:p.S163N;	0.995046026859171	0.876
18	34664195	G	C	18	37084232	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.G488C:p.S163T;ENSG00000150477:ENST00000586135:exon5:c.G488C:p.S163T;	0.0544652403886408	0.104
18	34664195	G	T	18	37084232	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon8:c.G488T:p.S163I;ENSG00000150477:ENST00000586135:exon5:c.G488T:p.S163I;	0.992474646220614	0.878
18	34664196	G	A	18	37084233	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.488+1G>A;ENST00000590617:exon7:c.1245+1G>A;ENST00000587139:exon6:c.1303+1G>A;ENST00000586135:exon5:c.488+1G>A)	.	.	0.993349593042562	0.914
18	34664196	G	C	18	37084233	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.488+1G>C;ENST00000590617:exon7:c.1245+1G>C;ENST00000587139:exon6:c.1303+1G>C;ENST00000586135:exon5:c.488+1G>C)	.	.	0.994029703713196	0.892
18	34664196	G	T	18	37084233	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.488+1G>T;ENST00000590617:exon7:c.1245+1G>T;ENST00000587139:exon6:c.1303+1G>T;ENST00000586135:exon5:c.488+1G>T)	.	.	0.994029703713196	0.896
18	34664197	T	A	18	37084234	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.488+2T>A;ENST00000590617:exon7:c.1245+2T>A;ENST00000587139:exon6:c.1303+2T>A;ENST00000586135:exon5:c.488+2T>A)	.	.	0.913899696834546	0.722
18	34664197	T	C	18	37084234	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.488+2T>C;ENST00000590617:exon7:c.1245+2T>C;ENST00000587139:exon6:c.1303+2T>C;ENST00000586135:exon5:c.488+2T>C)	.	.	0.913899696834546	0.712
18	34664197	T	G	18	37084234	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon8:c.488+2T>G;ENST00000590617:exon7:c.1245+2T>G;ENST00000587139:exon6:c.1303+2T>G;ENST00000586135:exon5:c.488+2T>G)	.	.	0.913899696834546	0.712
18	34664198	A	C	18	37084235	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0116548057537624	0.036
18	34664198	A	G	18	37084235	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0116548057537624	0.036
18	34664198	A	T	18	37084235	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.013999120100462	0.036
18	34664199	A	C	18	37084236	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0150331040704963	0.032
18	34664199	A	G	18	37084236	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0150331040704963	0.032
18	34664199	A	T	18	37084236	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0312291357410047	0.042
18	34664200	A	C	18	37084237	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.83253076109763E-4	0.006
18	34664200	A	G	18	37084237	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.83253076109763E-4	0.018
18	34664200	A	T	18	37084237	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.85233872139031E-4	0.01
18	34664201	C	A	18	37084238	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.5982790009972E-4	0.0
18	34664201	C	G	18	37084238	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.33698758487849E-4	0.036
18	34664201	C	T	18	37084238	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.5982790009972E-4	0.008
18	34664202	C	A	18	37084239	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.51348127203013E-5	0.01
18	34664202	C	G	18	37084239	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.25367971132387E-5	0.002
18	34664202	C	T	18	37084239	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.51348127203013E-5	0.0
18	34664203	T	A	18	37084240	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.574421148523E-4	0.002
18	34664203	T	C	18	37084240	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.574421148523E-4	0.006
18	34664203	T	G	18	37084240	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.574421148523E-4	0.016
18	34740151	T	A	18	37160188	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.306240108784786	0.694
18	34740151	T	C	18	37160188	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00214986350696303	0.062
18	34740151	T	G	18	37160188	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.261957213103343	0.6
18	34740152	T	A	18	37160189	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999943051000981	0.972
18	34740152	T	C	18	37160189	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.199865460542143	0.344
18	34740152	T	G	18	37160189	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.979370203413483	0.846
18	34740153	G	A	18	37160190	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.61636346058431E-4	0.042
18	34740153	G	C	18	37160190	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.25465486353875E-4	0.004
18	34740153	G	T	18	37160190	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.77783840822466E-5	0.006
18	34740154	T	A	18	37160191	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.821387225013713	0.696
18	34740154	T	C	18	37160191	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0120588890609188	0.118
18	34740154	T	G	18	37160191	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.786944487941304	0.648
18	34740155	T	A	18	37160192	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00384702477702547	0.15
18	34740155	T	C	18	37160192	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.0287577744077E-4	0.0
18	34740155	T	G	18	37160192	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	9.6800459162673E-4	0.16
18	34740156	C	A	18	37160193	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0608784437926555	0.132
18	34740156	C	G	18	37160193	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0140350395516909	0.078
18	34740156	C	T	18	37160193	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.80348842667251E-4	0.006
18	34740157	T	A	18	37160194	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.994149189222042	0.822
18	34740157	T	C	18	37160194	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00504332447994022	0.186
18	34740157	T	G	18	37160194	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.979892938775813	0.81
18	34740158	T	A	18	37160195	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.987689406765382	0.872
18	34740158	T	C	18	37160195	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.183827104629302	0.326
18	34740158	T	G	18	37160195	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.959898168882559	0.78
18	34740159	T	A	18	37160196	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.50669903383004E-4	0.044
18	34740159	T	C	18	37160196	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.08265346199018E-4	0.168
18	34740159	T	G	18	37160196	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00683146250630869	0.192
18	34740160	C	A	18	37160197	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.93582457703009	0.664
18	34740160	C	G	18	37160197	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.99951663492208	0.956
18	34740160	C	T	18	37160197	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00195695510460864	0.042
18	34740161	A	C	18	37160198	y	y	splicing	KIAA1328(NM_020776:exon8:c.1233-2A>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.909-2A>C;ENST00000592611:exon7:c.1138-2A>C;ENST00000435985:exon9:c.489-2A>C;ENST00000280020:exon8:c.1233-2A>C;ENST00000590617:exon8:c.1246-2A>C;ENST00000587139:exon7:c.1304-2A>C;ENST00000591619:exon8:c.1221-2A>C;ENST00000586135:exon6:c.489-2A>C)	.	.	0.999988247793601	0.932
18	34740161	A	G	18	37160198	y	y	splicing	KIAA1328(NM_020776:exon8:c.1233-2A>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.909-2A>G;ENST00000592611:exon7:c.1138-2A>G;ENST00000435985:exon9:c.489-2A>G;ENST00000280020:exon8:c.1233-2A>G;ENST00000590617:exon8:c.1246-2A>G;ENST00000587139:exon7:c.1304-2A>G;ENST00000591619:exon8:c.1221-2A>G;ENST00000586135:exon6:c.489-2A>G)	.	.	0.999988247793601	0.93
18	34740161	A	T	18	37160198	y	y	splicing	KIAA1328(NM_020776:exon8:c.1233-2A>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.909-2A>T;ENST00000592611:exon7:c.1138-2A>T;ENST00000435985:exon9:c.489-2A>T;ENST00000280020:exon8:c.1233-2A>T;ENST00000590617:exon8:c.1246-2A>T;ENST00000587139:exon7:c.1304-2A>T;ENST00000591619:exon8:c.1221-2A>T;ENST00000586135:exon6:c.489-2A>T)	.	.	0.999988247793601	0.932
18	34740162	G	A	18	37160199	y	y	splicing	KIAA1328(NM_020776:exon8:c.1233-1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.909-1G>A;ENST00000592611:exon7:c.1138-1G>A;ENST00000435985:exon9:c.489-1G>A;ENST00000280020:exon8:c.1233-1G>A;ENST00000590617:exon8:c.1246-1G>A;ENST00000587139:exon7:c.1304-1G>A;ENST00000591619:exon8:c.1221-1G>A;ENST00000586135:exon6:c.489-1G>A)	.	.	0.999990361384395	0.938
18	34740162	G	C	18	37160199	y	y	splicing	KIAA1328(NM_020776:exon8:c.1233-1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.909-1G>C;ENST00000592611:exon7:c.1138-1G>C;ENST00000435985:exon9:c.489-1G>C;ENST00000280020:exon8:c.1233-1G>C;ENST00000590617:exon8:c.1246-1G>C;ENST00000587139:exon7:c.1304-1G>C;ENST00000591619:exon8:c.1221-1G>C;ENST00000586135:exon6:c.489-1G>C)	.	.	0.999990361384395	0.938
18	34740162	G	T	18	37160199	y	y	splicing	KIAA1328(NM_020776:exon8:c.1233-1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.909-1G>T;ENST00000592611:exon7:c.1138-1G>T;ENST00000435985:exon9:c.489-1G>T;ENST00000280020:exon8:c.1233-1G>T;ENST00000590617:exon8:c.1246-1G>T;ENST00000587139:exon7:c.1304-1G>T;ENST00000591619:exon8:c.1221-1G>T;ENST00000586135:exon6:c.489-1G>T)	.	.	0.999990361384395	0.938
18	34740163	T	A	18	37160200	y	y	exonic	KIAA1328	stopgain SNV	KIAA1328:NM_020776:exon8:c.T1233A:p.C411X;	exonic	ENSG00000150477	stopgain SNV	ENSG00000150477:ENST00000280020:exon8:c.T1233A:p.C411X;ENSG00000150477:ENST00000591619:exon8:c.T1221A:p.C407X;ENSG00000150477:ENST00000543923:exon7:c.T909A:p.C303X;	6.52693707201344E-4	0.376
18	34740163	T	C	18	37160200	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon8:c.T1233C:p.C411C;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.T1233C:p.C411C;ENSG00000150477:ENST00000435985:exon9:c.T489C:p.S163S;ENSG00000150477:ENST00000586135:exon6:c.T489C:p.S163S;ENSG00000150477:ENST00000591619:exon8:c.T1221C:p.C407C;ENSG00000150477:ENST00000543923:exon7:c.T909C:p.C303C;	1.35159459160342E-4	0.01
18	34740163	T	G	18	37160200	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.T1233G:p.C411W;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.T1233G:p.C411W;ENSG00000150477:ENST00000435985:exon9:c.T489G:p.S163R;ENSG00000150477:ENST00000586135:exon6:c.T489G:p.S163R;ENSG00000150477:ENST00000591619:exon8:c.T1221G:p.C407W;ENSG00000150477:ENST00000543923:exon7:c.T909G:p.C303W;	1.01388329054001E-4	0.164
18	34740164	T	A	18	37160201	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.T1234A:p.L412I;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.T1234A:p.L412I;ENSG00000150477:ENST00000435985:exon9:c.T490A:p.L164I;ENSG00000150477:ENST00000586135:exon6:c.T490A:p.L164I;ENSG00000150477:ENST00000591619:exon8:c.T1222A:p.L408I;ENSG00000150477:ENST00000543923:exon7:c.T910A:p.L304I;	0.0156557976849741	0.14
18	34740164	T	C	18	37160201	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon8:c.T1234C:p.L412L;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.T1234C:p.L412L;ENSG00000150477:ENST00000435985:exon9:c.T490C:p.L164L;ENSG00000150477:ENST00000586135:exon6:c.T490C:p.L164L;ENSG00000150477:ENST00000591619:exon8:c.T1222C:p.L408L;ENSG00000150477:ENST00000543923:exon7:c.T910C:p.L304L;	0.0149370397450432	0.268
18	34740164	T	G	18	37160201	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.T1234G:p.L412V;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.T1234G:p.L412V;ENSG00000150477:ENST00000435985:exon9:c.T490G:p.L164V;ENSG00000150477:ENST00000586135:exon6:c.T490G:p.L164V;ENSG00000150477:ENST00000591619:exon8:c.T1222G:p.L408V;ENSG00000150477:ENST00000543923:exon7:c.T910G:p.L304V;	0.0104402383628066	0.116
18	34740342	G	A	18	37160379	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.G1412A:p.R471K;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.G1412A:p.R471K;ENSG00000150477:ENST00000435985:exon9:c.G668A:p.R223K;ENSG00000150477:ENST00000586135:exon6:c.G668A:p.R223K;ENSG00000150477:ENST00000591619:exon8:c.G1400A:p.R467K;ENSG00000150477:ENST00000543923:exon7:c.G1088A:p.R363K;	3.81920364158293E-5	0.088
18	34740342	G	C	18	37160379	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.G1412C:p.R471T;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.G1412C:p.R471T;ENSG00000150477:ENST00000435985:exon9:c.G668C:p.R223T;ENSG00000150477:ENST00000586135:exon6:c.G668C:p.R223T;ENSG00000150477:ENST00000591619:exon8:c.G1400C:p.R467T;ENSG00000150477:ENST00000543923:exon7:c.G1088C:p.R363T;	1.74073584672409E-4	0.14
18	34740342	G	T	18	37160379	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.G1412T:p.R471I;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.G1412T:p.R471I;ENSG00000150477:ENST00000435985:exon9:c.G668T:p.R223I;ENSG00000150477:ENST00000586135:exon6:c.G668T:p.R223I;ENSG00000150477:ENST00000591619:exon8:c.G1400T:p.R467I;ENSG00000150477:ENST00000543923:exon7:c.G1088T:p.R363I;	0.0229794918465755	0.35
18	34740343	A	C	18	37160380	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.A1413C:p.R471S;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.A1413C:p.R471S;ENSG00000150477:ENST00000435985:exon9:c.A669C:p.R223S;ENSG00000150477:ENST00000586135:exon6:c.A669C:p.R223S;ENSG00000150477:ENST00000591619:exon8:c.A1401C:p.R467S;ENSG00000150477:ENST00000543923:exon7:c.A1089C:p.R363S;	0.976884263039674	0.646
18	34740343	A	G	18	37160380	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon8:c.A1413G:p.R471R;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.A1413G:p.R471R;ENSG00000150477:ENST00000435985:exon9:c.A669G:p.R223R;ENSG00000150477:ENST00000586135:exon6:c.A669G:p.R223R;ENSG00000150477:ENST00000591619:exon8:c.A1401G:p.R467R;ENSG00000150477:ENST00000543923:exon7:c.A1089G:p.R363R;	0.283081987269028	0.324
18	34740343	A	T	18	37160380	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.A1413T:p.R471S;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.A1413T:p.R471S;ENSG00000150477:ENST00000435985:exon9:c.A669T:p.R223S;ENSG00000150477:ENST00000586135:exon6:c.A669T:p.R223S;ENSG00000150477:ENST00000591619:exon8:c.A1401T:p.R467S;ENSG00000150477:ENST00000543923:exon7:c.A1089T:p.R363S;	0.983217171681745	0.57
18	34740344	G	A	18	37160381	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.G1414A:p.G472R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.G1414A:p.G472R;ENSG00000150477:ENST00000435985:exon9:c.G670A:p.G224R;ENSG00000150477:ENST00000586135:exon6:c.G670A:p.G224R;ENSG00000150477:ENST00000591619:exon8:c.G1402A:p.G468R;ENSG00000150477:ENST00000543923:exon7:c.G1090A:p.G364R;	0.999806054392035	0.894
18	34740344	G	C	18	37160381	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.G1414C:p.G472R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.G1414C:p.G472R;ENSG00000150477:ENST00000435985:exon9:c.G670C:p.G224R;ENSG00000150477:ENST00000586135:exon6:c.G670C:p.G224R;ENSG00000150477:ENST00000591619:exon8:c.G1402C:p.G468R;ENSG00000150477:ENST00000543923:exon7:c.G1090C:p.G364R;	0.999802841033589	0.932
18	34740344	G	T	18	37160381	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon8:c.G1414T:p.G472W;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon8:c.G1414T:p.G472W;ENSG00000150477:ENST00000435985:exon9:c.G670T:p.G224W;ENSG00000150477:ENST00000586135:exon6:c.G670T:p.G224W;ENSG00000150477:ENST00000591619:exon8:c.G1402T:p.G468W;ENSG00000150477:ENST00000543923:exon7:c.G1090T:p.G364W;	0.99933984897278	0.946
18	34740345	G	A	18	37160382	y	y	splicing	KIAA1328(NM_020776:exon8:c.1414+1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.1090+1G>A;ENST00000592611:exon7:c.1319+1G>A;ENST00000435985:exon9:c.670+1G>A;ENST00000280020:exon8:c.1414+1G>A;ENST00000590617:exon8:c.1427+1G>A;ENST00000587139:exon7:c.1485+1G>A;ENST00000591619:exon8:c.1402+1G>A;ENST00000586135:exon6:c.670+1G>A)	.	.	0.999949496871441	0.946
18	34740345	G	C	18	37160382	y	y	splicing	KIAA1328(NM_020776:exon8:c.1414+1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.1090+1G>C;ENST00000592611:exon7:c.1319+1G>C;ENST00000435985:exon9:c.670+1G>C;ENST00000280020:exon8:c.1414+1G>C;ENST00000590617:exon8:c.1427+1G>C;ENST00000587139:exon7:c.1485+1G>C;ENST00000591619:exon8:c.1402+1G>C;ENST00000586135:exon6:c.670+1G>C)	.	.	0.999949962508874	0.946
18	34740345	G	T	18	37160382	y	y	splicing	KIAA1328(NM_020776:exon8:c.1414+1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.1090+1G>T;ENST00000592611:exon7:c.1319+1G>T;ENST00000435985:exon9:c.670+1G>T;ENST00000280020:exon8:c.1414+1G>T;ENST00000590617:exon8:c.1427+1G>T;ENST00000587139:exon7:c.1485+1G>T;ENST00000591619:exon8:c.1402+1G>T;ENST00000586135:exon6:c.670+1G>T)	.	.	0.999949962508874	0.946
18	34740346	T	A	18	37160383	y	y	splicing	KIAA1328(NM_020776:exon8:c.1414+2T>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.1090+2T>A;ENST00000592611:exon7:c.1319+2T>A;ENST00000435985:exon9:c.670+2T>A;ENST00000280020:exon8:c.1414+2T>A;ENST00000590617:exon8:c.1427+2T>A;ENST00000587139:exon7:c.1485+2T>A;ENST00000591619:exon8:c.1402+2T>A;ENST00000586135:exon6:c.670+2T>A)	.	.	0.99994568797423	0.946
18	34740346	T	C	18	37160383	y	y	splicing	KIAA1328(NM_020776:exon8:c.1414+2T>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.1090+2T>C;ENST00000592611:exon7:c.1319+2T>C;ENST00000435985:exon9:c.670+2T>C;ENST00000280020:exon8:c.1414+2T>C;ENST00000590617:exon8:c.1427+2T>C;ENST00000587139:exon7:c.1485+2T>C;ENST00000591619:exon8:c.1402+2T>C;ENST00000586135:exon6:c.670+2T>C)	.	.	0.960510416496982	0.642
18	34740346	T	G	18	37160383	y	y	splicing	KIAA1328(NM_020776:exon8:c.1414+2T>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon7:c.1090+2T>G;ENST00000592611:exon7:c.1319+2T>G;ENST00000435985:exon9:c.670+2T>G;ENST00000280020:exon8:c.1414+2T>G;ENST00000590617:exon8:c.1427+2T>G;ENST00000587139:exon7:c.1485+2T>G;ENST00000591619:exon8:c.1402+2T>G;ENST00000586135:exon6:c.670+2T>G)	.	.	0.999946188727699	0.946
18	34740347	A	C	18	37160384	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.633760544353886	0.532
18	34740347	A	G	18	37160384	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.69807976905417E-4	0.066
18	34740347	A	T	18	37160384	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.810867065004077	0.506
18	34740348	A	C	18	37160385	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.192562728065825	0.484
18	34740348	A	G	18	37160385	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.465994359154864	0.39
18	34740348	A	T	18	37160385	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.45812530456503	0.426
18	34740349	G	A	18	37160386	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.759649722103412	0.458
18	34740349	G	C	18	37160386	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.532572450019505	0.394
18	34740349	G	T	18	37160386	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.461120581280085	0.424
18	34740350	T	A	18	37160387	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00387424737303399	0.174
18	34740350	T	C	18	37160387	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0080038035026924	0.228
18	34740350	T	G	18	37160387	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.60504387702711E-4	0.138
18	34740351	T	A	18	37160388	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.85455578184536E-5	0.0
18	34740351	T	C	18	37160388	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.85455578184536E-5	0.004
18	34740351	T	G	18	37160388	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.85455578184536E-5	0.002
18	34740352	T	A	18	37160389	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.8209378316889E-5	0.002
18	34740352	T	C	18	37160389	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.02554573586693E-5	0.0
18	34740352	T	G	18	37160389	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.82627087397684E-5	0.002
18	34752924	T	A	18	37172961	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00292887518269052	0.172
18	34752924	T	C	18	37172961	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.73385931439371E-5	0.0
18	34752924	T	G	18	37172961	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.96049850754679	0.936
18	34752925	T	A	18	37172962	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0694117151870198	0.476
18	34752925	T	C	18	37172962	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.97477911962834E-5	0.07
18	34752925	T	G	18	37172962	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0171404928177084	0.426
18	34752926	T	A	18	37172963	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00867889738172043	0.22
18	34752926	T	C	18	37172963	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.3407028376281E-5	0.0
18	34752926	T	G	18	37172963	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00128077697626423	0.222
18	34752927	T	A	18	37172964	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00244189050373885	0.106
18	34752927	T	C	18	37172964	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.37348194401328E-5	0.0
18	34752927	T	G	18	37172964	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00224547207034189	0.11
18	34752928	T	A	18	37172965	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00216675657960318	0.188
18	34752928	T	C	18	37172965	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.66876757292839E-5	0.004
18	34752928	T	G	18	37172965	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.44244216762411E-4	0.184
18	34752929	C	A	18	37172966	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.66238110468376E-4	0.076
18	34752929	C	G	18	37172966	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.38823974237363E-4	0.12
18	34752929	C	T	18	37172966	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.83651309907707E-5	0.058
18	34752930	A	C	18	37172967	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.11716087261194E-5	0.018
18	34752930	A	G	18	37172967	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.46991233791674E-5	0.018
18	34752930	A	T	18	37172967	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.35864516322406E-5	0.014
18	34752931	T	A	18	37172968	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.035172688844773	0.492
18	34752931	T	C	18	37172968	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.78493497148902E-5	0.038
18	34752931	T	G	18	37172968	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.998454657009711	0.642
18	34752932	A	C	18	37172969	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.23317839861953E-5	0.006
18	34752932	A	G	18	37172969	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.90216193224548E-5	0.002
18	34752932	A	T	18	37172969	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.43154431962992E-5	0.004
18	34752933	T	A	18	37172970	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00867957410796634	0.128
18	34752933	T	C	18	37172970	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.97877573902904E-5	0.004
18	34752933	T	G	18	37172970	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.931576096772702	0.66
18	34752934	A	C	18	37172971	y	y	splicing	KIAA1328(NM_020776:exon9:c.1415-2A>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1091-2A>C;ENST00000592611:exon8:c.1320-2A>C;ENST00000435985:exon10:c.671-2A>C;ENST00000280020:exon9:c.1415-2A>C;ENST00000590617:exon9:c.1428-2A>C;ENST00000587139:exon8:c.1486-2A>C;ENST00000591619:exon9:c.1403-2A>C;ENST00000586135:exon7:c.671-2A>C)	.	.	0.999974045756012	0.746
18	34752934	A	G	18	37172971	y	y	splicing	KIAA1328(NM_020776:exon9:c.1415-2A>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1091-2A>G;ENST00000592611:exon8:c.1320-2A>G;ENST00000435985:exon10:c.671-2A>G;ENST00000280020:exon9:c.1415-2A>G;ENST00000590617:exon9:c.1428-2A>G;ENST00000587139:exon8:c.1486-2A>G;ENST00000591619:exon9:c.1403-2A>G;ENST00000586135:exon7:c.671-2A>G)	.	.	0.999974045756012	0.746
18	34752934	A	T	18	37172971	y	y	splicing	KIAA1328(NM_020776:exon9:c.1415-2A>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1091-2A>T;ENST00000592611:exon8:c.1320-2A>T;ENST00000435985:exon10:c.671-2A>T;ENST00000280020:exon9:c.1415-2A>T;ENST00000590617:exon9:c.1428-2A>T;ENST00000587139:exon8:c.1486-2A>T;ENST00000591619:exon9:c.1403-2A>T;ENST00000586135:exon7:c.671-2A>T)	.	.	0.999974045756012	0.744
18	34752935	G	A	18	37172972	y	y	splicing	KIAA1328(NM_020776:exon9:c.1415-1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1091-1G>A;ENST00000592611:exon8:c.1320-1G>A;ENST00000435985:exon10:c.671-1G>A;ENST00000280020:exon9:c.1415-1G>A;ENST00000590617:exon9:c.1428-1G>A;ENST00000587139:exon8:c.1486-1G>A;ENST00000591619:exon9:c.1403-1G>A;ENST00000586135:exon7:c.671-1G>A)	.	.	0.999990123758928	0.772
18	34752935	G	C	18	37172972	y	y	splicing	KIAA1328(NM_020776:exon9:c.1415-1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1091-1G>C;ENST00000592611:exon8:c.1320-1G>C;ENST00000435985:exon10:c.671-1G>C;ENST00000280020:exon9:c.1415-1G>C;ENST00000590617:exon9:c.1428-1G>C;ENST00000587139:exon8:c.1486-1G>C;ENST00000591619:exon9:c.1403-1G>C;ENST00000586135:exon7:c.671-1G>C)	.	.	0.999990123758928	0.772
18	34752935	G	T	18	37172972	y	y	splicing	KIAA1328(NM_020776:exon9:c.1415-1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1091-1G>T;ENST00000592611:exon8:c.1320-1G>T;ENST00000435985:exon10:c.671-1G>T;ENST00000280020:exon9:c.1415-1G>T;ENST00000590617:exon9:c.1428-1G>T;ENST00000587139:exon8:c.1486-1G>T;ENST00000591619:exon9:c.1403-1G>T;ENST00000586135:exon7:c.671-1G>T)	.	.	0.999990123758928	0.772
18	34752936	G	A	18	37172973	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon9:c.G1415A:p.G472E;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1415A:p.G472E;ENSG00000150477:ENST00000435985:exon10:c.G671A:p.G224E;ENSG00000150477:ENST00000586135:exon7:c.G671A:p.G224E;ENSG00000150477:ENST00000591619:exon9:c.G1403A:p.G468E;ENSG00000150477:ENST00000543923:exon8:c.G1091A:p.G364E;	0.00100106940926479	0.102
18	34752936	G	C	18	37172973	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon9:c.G1415C:p.G472A;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1415C:p.G472A;ENSG00000150477:ENST00000435985:exon10:c.G671C:p.G224A;ENSG00000150477:ENST00000586135:exon7:c.G671C:p.G224A;ENSG00000150477:ENST00000591619:exon9:c.G1403C:p.G468A;ENSG00000150477:ENST00000543923:exon8:c.G1091C:p.G364A;	0.00338453678693025	0.186
18	34752936	G	T	18	37172973	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon9:c.G1415T:p.G472V;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1415T:p.G472V;ENSG00000150477:ENST00000435985:exon10:c.G671T:p.G224V;ENSG00000150477:ENST00000586135:exon7:c.G671T:p.G224V;ENSG00000150477:ENST00000591619:exon9:c.G1403T:p.G468V;ENSG00000150477:ENST00000543923:exon8:c.G1091T:p.G364V;	0.0343653384993217	0.294
18	34752937	G	A	18	37172974	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon9:c.G1416A:p.G472G;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1416A:p.G472G;ENSG00000150477:ENST00000435985:exon10:c.G672A:p.G224G;ENSG00000150477:ENST00000586135:exon7:c.G672A:p.G224G;ENSG00000150477:ENST00000591619:exon9:c.G1404A:p.G468G;ENSG00000150477:ENST00000543923:exon8:c.G1092A:p.G364G;	4.49688442409648E-5	0.028
18	34752937	G	C	18	37172974	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon9:c.G1416C:p.G472G;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1416C:p.G472G;ENSG00000150477:ENST00000435985:exon10:c.G672C:p.G224G;ENSG00000150477:ENST00000586135:exon7:c.G672C:p.G224G;ENSG00000150477:ENST00000591619:exon9:c.G1404C:p.G468G;ENSG00000150477:ENST00000543923:exon8:c.G1092C:p.G364G;	4.49688442409648E-5	0.02
18	34752937	G	T	18	37172974	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon9:c.G1416T:p.G472G;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1416T:p.G472G;ENSG00000150477:ENST00000435985:exon10:c.G672T:p.G224G;ENSG00000150477:ENST00000586135:exon7:c.G672T:p.G224G;ENSG00000150477:ENST00000591619:exon9:c.G1404T:p.G468G;ENSG00000150477:ENST00000543923:exon8:c.G1092T:p.G364G;	1.68437606004261E-5	0.076
18	34753042	C	A	18	37173079	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon9:c.C1521A:p.S507S;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.C1521A:p.S507S;ENSG00000150477:ENST00000435985:exon10:c.C777A:p.S259S;ENSG00000150477:ENST00000586135:exon7:c.C777A:p.S259S;ENSG00000150477:ENST00000591619:exon9:c.C1509A:p.S503S;ENSG00000150477:ENST00000543923:exon8:c.C1197A:p.S399S;	4.88901045564875E-5	0.046
18	34753042	C	G	18	37173079	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon9:c.C1521G:p.S507S;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.C1521G:p.S507S;ENSG00000150477:ENST00000435985:exon10:c.C777G:p.S259S;ENSG00000150477:ENST00000586135:exon7:c.C777G:p.S259S;ENSG00000150477:ENST00000591619:exon9:c.C1509G:p.S503S;ENSG00000150477:ENST00000543923:exon8:c.C1197G:p.S399S;	6.20343086800846E-5	0.044
18	34753042	C	T	18	37173079	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon9:c.C1521T:p.S507S;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.C1521T:p.S507S;ENSG00000150477:ENST00000435985:exon10:c.C777T:p.S259S;ENSG00000150477:ENST00000586135:exon7:c.C777T:p.S259S;ENSG00000150477:ENST00000591619:exon9:c.C1509T:p.S503S;ENSG00000150477:ENST00000543923:exon8:c.C1197T:p.S399S;	4.22638190357916E-4	0.032
18	34753043	C	A	18	37173080	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon9:c.C1522A:p.R508R;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon10:c.C778A:p.R260S;ENSG00000150477:ENST00000586135:exon7:c.C778A:p.R260S;	3.13988228663175E-4	0.136
18	34753043	C	G	18	37173080	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon9:c.C1522G:p.R508G;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.C1522G:p.R508G;ENSG00000150477:ENST00000435985:exon10:c.C778G:p.R260G;ENSG00000150477:ENST00000586135:exon7:c.C778G:p.R260G;ENSG00000150477:ENST00000591619:exon9:c.C1510G:p.R504G;ENSG00000150477:ENST00000543923:exon8:c.C1198G:p.R400G;	7.98840978475217E-5	0.016
18	34753043	C	T	18	37173080	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon9:c.C1522T:p.R508W;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.C1522T:p.R508W;ENSG00000150477:ENST00000435985:exon10:c.C778T:p.R260C;ENSG00000150477:ENST00000586135:exon7:c.C778T:p.R260C;ENSG00000150477:ENST00000591619:exon9:c.C1510T:p.R504W;ENSG00000150477:ENST00000543923:exon8:c.C1198T:p.R400W;	3.55335385694564E-4	0.026
18	34753044	G	A	18	37173081	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon9:c.G1523A:p.R508Q;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1523A:p.R508Q;ENSG00000150477:ENST00000435985:exon10:c.G779A:p.R260H;ENSG00000150477:ENST00000586135:exon7:c.G779A:p.R260H;ENSG00000150477:ENST00000591619:exon9:c.G1511A:p.R504Q;ENSG00000150477:ENST00000543923:exon8:c.G1199A:p.R400Q;	0.990464918227888	0.85
18	34753044	G	C	18	37173081	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon9:c.G1523C:p.R508P;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1523C:p.R508P;ENSG00000150477:ENST00000435985:exon10:c.G779C:p.R260P;ENSG00000150477:ENST00000586135:exon7:c.G779C:p.R260P;ENSG00000150477:ENST00000591619:exon9:c.G1511C:p.R504P;ENSG00000150477:ENST00000543923:exon8:c.G1199C:p.R400P;	0.999247652199784	0.836
18	34753044	G	T	18	37173081	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon9:c.G1523T:p.R508L;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon9:c.G1523T:p.R508L;ENSG00000150477:ENST00000435985:exon10:c.G779T:p.R260L;ENSG00000150477:ENST00000586135:exon7:c.G779T:p.R260L;ENSG00000150477:ENST00000591619:exon9:c.G1511T:p.R504L;ENSG00000150477:ENST00000543923:exon8:c.G1199T:p.R400L;	0.999095113921147	0.9
18	34753045	G	A	18	37173082	y	y	splicing	KIAA1328(NM_020776:exon9:c.1523+1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1199+1G>A;ENST00000592611:exon8:c.1428+1G>A;ENST00000435985:exon10:c.779+1G>A;ENST00000280020:exon9:c.1523+1G>A;ENST00000590617:exon9:c.1536+1G>A;ENST00000587139:exon8:c.1594+1G>A;ENST00000591619:exon9:c.1511+1G>A;ENST00000586135:exon7:c.779+1G>A)	.	.	0.999976475802857	0.908
18	34753045	G	C	18	37173082	y	y	splicing	KIAA1328(NM_020776:exon9:c.1523+1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1199+1G>C;ENST00000592611:exon8:c.1428+1G>C;ENST00000435985:exon10:c.779+1G>C;ENST00000280020:exon9:c.1523+1G>C;ENST00000590617:exon9:c.1536+1G>C;ENST00000587139:exon8:c.1594+1G>C;ENST00000591619:exon9:c.1511+1G>C;ENST00000586135:exon7:c.779+1G>C)	.	.	0.999977162774916	0.844
18	34753045	G	T	18	37173082	y	y	splicing	KIAA1328(NM_020776:exon9:c.1523+1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1199+1G>T;ENST00000592611:exon8:c.1428+1G>T;ENST00000435985:exon10:c.779+1G>T;ENST00000280020:exon9:c.1523+1G>T;ENST00000590617:exon9:c.1536+1G>T;ENST00000587139:exon8:c.1594+1G>T;ENST00000591619:exon9:c.1511+1G>T;ENST00000586135:exon7:c.779+1G>T)	.	.	0.999976475802857	0.906
18	34753046	T	A	18	37173083	y	y	splicing	KIAA1328(NM_020776:exon9:c.1523+2T>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1199+2T>A;ENST00000592611:exon8:c.1428+2T>A;ENST00000435985:exon10:c.779+2T>A;ENST00000280020:exon9:c.1523+2T>A;ENST00000590617:exon9:c.1536+2T>A;ENST00000587139:exon8:c.1594+2T>A;ENST00000591619:exon9:c.1511+2T>A;ENST00000586135:exon7:c.779+2T>A)	.	.	0.999971317418422	0.898
18	34753046	T	C	18	37173083	y	y	splicing	KIAA1328(NM_020776:exon9:c.1523+2T>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1199+2T>C;ENST00000592611:exon8:c.1428+2T>C;ENST00000435985:exon10:c.779+2T>C;ENST00000280020:exon9:c.1523+2T>C;ENST00000590617:exon9:c.1536+2T>C;ENST00000587139:exon8:c.1594+2T>C;ENST00000591619:exon9:c.1511+2T>C;ENST00000586135:exon7:c.779+2T>C)	.	.	0.999732302304343	0.812
18	34753046	T	G	18	37173083	y	y	splicing	KIAA1328(NM_020776:exon9:c.1523+2T>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon8:c.1199+2T>G;ENST00000592611:exon8:c.1428+2T>G;ENST00000435985:exon10:c.779+2T>G;ENST00000280020:exon9:c.1523+2T>G;ENST00000590617:exon9:c.1536+2T>G;ENST00000587139:exon8:c.1594+2T>G;ENST00000591619:exon9:c.1511+2T>G;ENST00000586135:exon7:c.779+2T>G)	.	.	0.999972155025474	0.824
18	34753047	A	C	18	37173084	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.748185758258743	0.588
18	34753047	A	G	18	37173084	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	8.99358573969778E-5	0.032
18	34753047	A	T	18	37173084	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.980656040552189	0.586
18	34753048	A	C	18	37173085	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.124268341311222	0.368
18	34753048	A	G	18	37173085	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.623990017482197	0.41
18	34753048	A	T	18	37173085	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.711085480073842	0.464
18	34753049	G	A	18	37173086	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.996040301664239	0.69
18	34753049	G	C	18	37173086	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999432017145644	0.864
18	34753049	G	T	18	37173086	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.998616057331331	0.76
18	34753050	C	A	18	37173087	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.36944600226271E-4	0.016
18	34753050	C	G	18	37173087	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.74078641066564E-4	0.13
18	34753050	C	T	18	37173087	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.57991566383653E-5	0.018
18	34753051	T	A	18	37173088	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.95708808406158E-5	0.0
18	34753051	T	C	18	37173088	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.86577749088527E-5	0.002
18	34753051	T	G	18	37173088	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.49497729749774E-5	0.002
18	34753052	T	A	18	37173089	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.66440652146743E-5	0.0
18	34753052	T	C	18	37173089	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.41980801714125E-5	0.0
18	34753052	T	G	18	37173089	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.09099101564455E-5	0.002
18	34773542	A	C	18	37193579	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.78684081159298E-5	0.002
18	34773542	A	G	18	37193579	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.78684081159298E-5	0.002
18	34773542	A	T	18	37193579	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.78684081159298E-5	0.006
18	34773543	T	A	18	37193580	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.552751562108E-5	0.004
18	34773543	T	C	18	37193580	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.552751562108E-5	0.008
18	34773543	T	G	18	37193580	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.552751562108E-5	0.006
18	34773544	T	A	18	37193581	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.82827935381688E-5	0.002
18	34773544	T	C	18	37193581	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.82827935381688E-5	0.002
18	34773544	T	G	18	37193581	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.82827935381688E-5	0.002
18	34773545	T	A	18	37193582	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.62344322155692E-5	0.002
18	34773545	T	C	18	37193582	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.78684081159298E-5	0.002
18	34773545	T	G	18	37193582	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.78684081159298E-5	0.002
18	34773546	A	C	18	37193583	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.1036365348547E-5	0.01
18	34773546	A	G	18	37193583	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.1036365348547E-5	0.01
18	34773546	A	T	18	37193583	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.99328296935829E-5	0.012
18	34773547	T	A	18	37193584	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.97196816271393E-4	0.006
18	34773547	T	C	18	37193584	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.64760194732404E-4	0.076
18	34773547	T	G	18	37193584	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.64760194732404E-4	0.08
18	34773548	T	A	18	37193585	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.27145488438373E-5	0.0
18	34773548	T	C	18	37193585	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.17833868802641E-5	0.0
18	34773548	T	G	18	37193585	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.17833868802641E-5	0.0
18	34773549	C	A	18	37193586	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.36239231960749E-5	0.0
18	34773549	C	G	18	37193586	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.82422152229121E-5	0.0
18	34773549	C	T	18	37193586	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.36239231960749E-5	0.0
18	34773550	C	A	18	37193587	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.45892698382496E-5	0.0
18	34773550	C	G	18	37193587	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.45892698382496E-5	0.016
18	34773550	C	T	18	37193587	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.79815302939872E-5	0.0
18	34773551	T	A	18	37193588	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.39252418165826E-5	0.004
18	34773551	T	C	18	37193588	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.39252418165826E-5	0.004
18	34773551	T	G	18	37193588	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.39252418165826E-5	0.004
18	34773552	A	C	18	37193589	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon11:c.780-2A>C;ENST00000586135:exon8:c.780-2A>C)	.	.	2.95853904142978E-5	0.006
18	34773552	A	G	18	37193589	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon11:c.780-2A>G;ENST00000586135:exon8:c.780-2A>G)	.	.	2.95853904142978E-5	0.006
18	34773552	A	T	18	37193589	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon11:c.780-2A>T;ENST00000586135:exon8:c.780-2A>T)	.	.	2.95853904142978E-5	0.004
18	34773553	G	A	18	37193590	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon11:c.780-1G>A;ENST00000586135:exon8:c.780-1G>A)	.	.	9.06619588578661E-5	0.12
18	34773553	G	C	18	37193590	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon11:c.780-1G>C;ENST00000586135:exon8:c.780-1G>C)	.	.	9.06619588578661E-5	0.006
18	34773553	G	T	18	37193590	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000435985:exon11:c.780-1G>T;ENST00000586135:exon8:c.780-1G>T)	.	.	9.06619588578661E-5	0.008
18	34773554	C	A	18	37193591	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000435985:exon11:c.C780A:p.R260R;ENSG00000150477:ENST00000586135:exon8:c.C780A:p.R260R;	2.45892698382496E-5	0.008
18	34773554	C	G	18	37193591	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000435985:exon11:c.C780G:p.R260R;ENSG00000150477:ENST00000586135:exon8:c.C780G:p.R260R;	2.45892698382496E-5	0.002
18	34773554	C	T	18	37193591	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000435985:exon11:c.C780T:p.R260R;ENSG00000150477:ENST00000586135:exon8:c.C780T:p.R260R;	2.45892698382496E-5	0.002
18	34773555	C	A	18	37193592	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon11:c.C781A:p.P261T;ENSG00000150477:ENST00000586135:exon8:c.C781A:p.P261T;	1.49817874025862E-4	0.0
18	34773555	C	G	18	37193592	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon11:c.C781G:p.P261A;ENSG00000150477:ENST00000586135:exon8:c.C781G:p.P261A;	1.09047657340479E-4	0.0
18	34773555	C	T	18	37193592	n	y	intronic	KIAA1328	.	.	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000435985:exon11:c.C781T:p.P261S;ENSG00000150477:ENST00000586135:exon8:c.C781T:p.P261S;	1.35516193859006E-4	0.0
18	34773655	A	C	18	37193692	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	7.74276875048101E-4	0.01
18	34773655	A	G	18	37193692	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	7.74276875048101E-4	0.01
18	34773655	A	T	18	37193692	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	7.74276875048101E-4	0.01
18	34773656	A	C	18	37193693	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773656	A	G	18	37193693	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773656	A	T	18	37193693	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773657	G	A	18	37193694	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	7.44782069694124E-5	0.006
18	34773657	G	C	18	37193694	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	4.09774573448081E-5	0.01
18	34773657	G	T	18	37193694	n	y	intronic	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	7.44782069694124E-5	0.006
18	34773658	G	A	18	37193695	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586135:exon8:c.883+1G>A)	.	.	6.89925739660516E-5	0.004
18	34773658	G	C	18	37193695	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586135:exon8:c.883+1G>C)	.	.	3.07620641825897E-5	0.0
18	34773658	G	T	18	37193695	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586135:exon8:c.883+1G>T)	.	.	3.31929338280547E-5	0.004
18	34773659	T	A	18	37193696	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586135:exon8:c.883+2T>A)	.	.	5.5529151830241E-5	0.0
18	34773659	T	C	18	37193696	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586135:exon8:c.883+2T>C)	.	.	5.5529151830241E-5	0.0
18	34773659	T	G	18	37193696	n	y	intronic	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000586135:exon8:c.883+2T>G)	.	.	5.5529151830241E-5	0.0
18	34773660	A	C	18	37193697	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773660	A	G	18	37193697	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.55826342655592E-4	0.002
18	34773660	A	T	18	37193697	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773661	T	A	18	37193698	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.45170072801036E-5	0.008
18	34773661	T	C	18	37193698	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.3994564522384E-5	0.008
18	34773661	T	G	18	37193698	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.3994564522384E-5	0.008
18	34773662	T	A	18	37193699	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773662	T	C	18	37193699	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773662	T	G	18	37193699	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773663	T	A	18	37193700	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773663	T	C	18	37193700	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773663	T	G	18	37193700	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.4076558401562E-4	0.002
18	34773664	C	A	18	37193701	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.44782069694124E-5	0.008
18	34773664	C	G	18	37193701	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	7.44782069694124E-5	0.008
18	34773664	C	T	18	37193701	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	6.17112518686628E-5	0.008
18	34773665	A	C	18	37193702	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.95905533305893E-5	0.0
18	34773665	A	G	18	37193702	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.95905533305893E-5	0.0
18	34773665	A	T	18	37193702	n	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	4.95905533305893E-5	0.0
18	34801968	T	A	18	37222005	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.974639841991259	0.626
18	34801968	T	C	18	37222005	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00961026547132621	0.076
18	34801968	T	G	18	37222005	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999879115870649	0.966
18	34801969	A	C	18	37222006	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.41125687390897E-5	0.01
18	34801969	A	G	18	37222006	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	2.67235604098329E-5	0.008
18	34801969	A	T	18	37222006	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	5.57528966670581E-5	0.036
18	34801970	T	A	18	37222007	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999987402465546	0.968
18	34801970	T	C	18	37222007	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.840846503861033	0.494
18	34801970	T	G	18	37222007	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999977597386882	0.974
18	34801971	G	A	18	37222008	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.833756888392613	0.674
18	34801971	G	C	18	37222008	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.3765825224901	0.49
18	34801971	G	T	18	37222008	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.404215210716787	0.424
18	34801972	T	A	18	37222009	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.705712683300638	0.634
18	34801972	T	C	18	37222009	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.00447365790975205	0.074
18	34801972	T	G	18	37222009	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.681969428327571	0.604
18	34801973	C	A	18	37222010	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.90214216515865E-4	0.066
18	34801973	C	G	18	37222010	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	3.02961138682459E-4	0.104
18	34801973	C	T	18	37222010	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.19020106591308E-4	0.014
18	34801974	T	A	18	37222011	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.994175368482792	0.888
18	34801974	T	C	18	37222011	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0187517909581819	0.18
18	34801974	T	G	18	37222011	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.998589344763598	0.914
18	34801975	T	A	18	37222012	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.39511752657664	0.636
18	34801975	T	C	18	37222012	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.0262542364016182	0.174
18	34801975	T	G	18	37222012	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.621821830847672	0.588
18	34801976	A	C	18	37222013	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.42288881399954E-4	0.006
18	34801976	A	G	18	37222013	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.20627668823223E-4	0.064
18	34801976	A	T	18	37222013	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	1.51203044458747E-4	0.038
18	34801977	C	A	18	37222014	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999773377116233	0.906
18	34801977	C	G	18	37222014	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.999962850300863	0.988
18	34801977	C	T	18	37222014	y	y	intronic	KIAA1328	.	.	intronic	ENSG00000150477	.	.	0.484390726382406	0.174
18	34801978	A	C	18	37222015	y	y	splicing	KIAA1328(NM_020776:exon10:c.1524-2A>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon9:c.1200-2A>C;ENST00000592611:exon9:c.1429-2A>C;ENST00000280020:exon10:c.1524-2A>C;ENST00000590617:exon10:c.1537-2A>C;ENST00000587139:exon9:c.1595-2A>C;ENST00000591619:exon10:c.1512-2A>C;ENST00000586135:exon9:c.884-2A>C)	.	.	0.999988247793601	0.954
18	34801978	A	G	18	37222015	y	y	splicing	KIAA1328(NM_020776:exon10:c.1524-2A>G)	.	.	splicing	ENSG00000150477(ENST00000543923:exon9:c.1200-2A>G;ENST00000592611:exon9:c.1429-2A>G;ENST00000280020:exon10:c.1524-2A>G;ENST00000590617:exon10:c.1537-2A>G;ENST00000587139:exon9:c.1595-2A>G;ENST00000591619:exon10:c.1512-2A>G;ENST00000586135:exon9:c.884-2A>G)	.	.	0.999988247793601	0.954
18	34801978	A	T	18	37222015	y	y	splicing	KIAA1328(NM_020776:exon10:c.1524-2A>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon9:c.1200-2A>T;ENST00000592611:exon9:c.1429-2A>T;ENST00000280020:exon10:c.1524-2A>T;ENST00000590617:exon10:c.1537-2A>T;ENST00000587139:exon9:c.1595-2A>T;ENST00000591619:exon10:c.1512-2A>T;ENST00000586135:exon9:c.884-2A>T)	.	.	0.999988247793601	0.954
18	34801979	G	A	18	37222016	y	y	splicing	KIAA1328(NM_020776:exon10:c.1524-1G>A)	.	.	splicing	ENSG00000150477(ENST00000543923:exon9:c.1200-1G>A;ENST00000592611:exon9:c.1429-1G>A;ENST00000280020:exon10:c.1524-1G>A;ENST00000590617:exon10:c.1537-1G>A;ENST00000587139:exon9:c.1595-1G>A;ENST00000591619:exon10:c.1512-1G>A;ENST00000586135:exon9:c.884-1G>A)	.	.	0.999990361384395	0.952
18	34801979	G	C	18	37222016	y	y	splicing	KIAA1328(NM_020776:exon10:c.1524-1G>C)	.	.	splicing	ENSG00000150477(ENST00000543923:exon9:c.1200-1G>C;ENST00000592611:exon9:c.1429-1G>C;ENST00000280020:exon10:c.1524-1G>C;ENST00000590617:exon10:c.1537-1G>C;ENST00000587139:exon9:c.1595-1G>C;ENST00000591619:exon10:c.1512-1G>C;ENST00000586135:exon9:c.884-1G>C)	.	.	0.999990361384395	0.952
18	34801979	G	T	18	37222016	y	y	splicing	KIAA1328(NM_020776:exon10:c.1524-1G>T)	.	.	splicing	ENSG00000150477(ENST00000543923:exon9:c.1200-1G>T;ENST00000592611:exon9:c.1429-1G>T;ENST00000280020:exon10:c.1524-1G>T;ENST00000590617:exon10:c.1537-1G>T;ENST00000587139:exon9:c.1595-1G>T;ENST00000591619:exon10:c.1512-1G>T;ENST00000586135:exon9:c.884-1G>T)	.	.	0.999990361384395	0.952
18	34801980	G	A	18	37222017	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon10:c.G1524A:p.R508R;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon10:c.G1524A:p.R508R;ENSG00000150477:ENST00000591619:exon10:c.G1512A:p.R504R;ENSG00000150477:ENST00000543923:exon9:c.G1200A:p.R400R;	0.105802768792307	0.28
18	34801980	G	C	18	37222017	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon10:c.G1524C:p.R508R;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon10:c.G1524C:p.R508R;ENSG00000150477:ENST00000591619:exon10:c.G1512C:p.R504R;ENSG00000150477:ENST00000543923:exon9:c.G1200C:p.R400R;	0.127526313544234	0.644
18	34801980	G	T	18	37222017	y	y	exonic	KIAA1328	synonymous SNV	KIAA1328:NM_020776:exon10:c.G1524T:p.R508R;	exonic	ENSG00000150477	synonymous SNV	ENSG00000150477:ENST00000280020:exon10:c.G1524T:p.R508R;ENSG00000150477:ENST00000591619:exon10:c.G1512T:p.R504R;ENSG00000150477:ENST00000543923:exon9:c.G1200T:p.R400R;	0.933008122084444	0.832
18	34801981	T	A	18	37222018	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon10:c.T1525A:p.Y509N;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon10:c.T1525A:p.Y509N;ENSG00000150477:ENST00000591619:exon10:c.T1513A:p.Y505N;ENSG00000150477:ENST00000543923:exon9:c.T1201A:p.Y401N;	0.912047208167297	0.518
18	34801981	T	C	18	37222018	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon10:c.T1525C:p.Y509H;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon10:c.T1525C:p.Y509H;ENSG00000150477:ENST00000591619:exon10:c.T1513C:p.Y505H;ENSG00000150477:ENST00000543923:exon9:c.T1201C:p.Y401H;	0.898218707239592	0.498
18	34801981	T	G	18	37222018	y	y	exonic	KIAA1328	nonsynonymous SNV	KIAA1328:NM_020776:exon10:c.T1525G:p.Y509D;	exonic	ENSG00000150477	nonsynonymous SNV	ENSG00000150477:ENST00000280020:exon10:c.T1525G:p.Y509D;ENSG00000150477:ENST00000591619:exon10:c.T1513G:p.Y505D;ENSG00000150477:ENST00000543923:exon9:c.T1201G:p.Y401D;	0.949671328014459	0.482
18	34805244	T	A	18	37225281	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	3.0180149904064E-5	0.0
18	34805244	T	C	18	37225281	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.27145488438373E-5	0.0
18	34805244	T	G	18	37225281	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.27145488438373E-5	0.0
18	34805245	A	C	18	37225282	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.16742623748823E-5	0.0
18	34805245	A	G	18	37225282	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.16742623748823E-5	0.0
18	34805245	A	T	18	37225282	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	5.14469246767614E-5	0.002
18	34805246	T	A	18	37225283	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	9.14475266260521E-5	0.146
18	34805246	T	C	18	37225283	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	8.0258827564241E-5	0.14
18	34805246	T	G	18	37225283	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	8.0258827564241E-5	0.14
18	34805247	G	A	18	37225284	n	y	UTR3	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000591619:exon10:c.4778+1G>A)	.	.	3.9852373194271E-5	0.012
18	34805247	G	C	18	37225284	n	y	UTR3	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000591619:exon10:c.4778+1G>C)	.	.	3.9852373194271E-5	0.012
18	34805247	G	T	18	37225284	n	y	UTR3	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000591619:exon10:c.4778+1G>T)	.	.	3.9852373194271E-5	0.012
18	34805248	T	A	18	37225285	n	y	UTR3	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000591619:exon10:c.4778+2T>A)	.	.	4.97864243205666E-5	0.0
18	34805248	T	C	18	37225285	n	y	UTR3	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000591619:exon10:c.4778+2T>C)	.	.	3.22319008290309E-5	0.0
18	34805248	T	G	18	37225285	n	y	UTR3	KIAA1328	.	.	splicing	ENSG00000150477(ENST00000591619:exon10:c.4778+2T>G)	.	.	3.22319008290309E-5	0.0
18	34805249	A	C	18	37225286	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.17833868802641E-5	0.0
18	34805249	A	G	18	37225286	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.17833868802641E-5	0.0
18	34805249	A	T	18	37225286	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.17833868802641E-5	0.0
18	34805250	C	A	18	37225287	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.45277156108894E-5	0.0
18	34805250	C	G	18	37225287	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.45277156108894E-5	0.0
18	34805250	C	T	18	37225287	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.45277156108894E-5	0.0
18	34805251	G	A	18	37225288	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.45277156108894E-5	0.0
18	34805251	G	C	18	37225288	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.45277156108894E-5	0.0
18	34805251	G	T	18	37225288	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.45277156108894E-5	0.0
18	34805252	T	A	18	37225289	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	3.07620641825897E-5	0.0
18	34805252	T	C	18	37225289	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.99153316237132E-5	0.0
18	34805252	T	G	18	37225289	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.99153316237132E-5	0.0
18	34805253	A	C	18	37225290	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.17833868802641E-5	0.0
18	34805253	A	G	18	37225290	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.17833868802641E-5	0.0
18	34805253	A	T	18	37225290	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	1.17833868802641E-5	0.0
18	34805254	T	A	18	37225291	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	3.724750946023E-5	0.0
18	34805254	T	C	18	37225291	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.41140579849246E-5	0.0
18	34805254	T	G	18	37225291	n	y	UTR3	KIAA1328	.	.	UTR3	ENSG00000150477	.	.	2.41140579849246E-5	0.0
18	34825159	C	A	18	37245196	y	y	UTR3	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.00174844413297328	0.058
18	34825159	C	G	18	37245196	y	y	UTR3	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.00190495912573675	0.066
18	34825159	C	T	18	37245196	y	y	UTR3	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.00310463035021053	0.064
18	34825160	C	A	18	37245197	y	y	UTR3	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.852509884504179	0.558
18	34825160	C	G	18	37245197	y	y	UTR3	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.814633350442009	0.566
18	34825160	C	T	18	37245197	y	y	UTR3	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.466293134942426	0.556
18	34825161	C	A	18	37245198	y	y	splicing	CELF4(NM_001025089:exon13:c.1392-1G>T;NM_020180:exon14:c.1506-1G>T;NM_001025088:exon14:c.1500-1G>T;NM_001025087:exon14:c.1503-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon14:c.1503-1G>T;ENST00000420428:exon14:c.1506-1G>T;ENST00000591287:exon14:c.1500-1G>T;ENST00000334919:exon13:c.1392-1G>T;ENST00000588591:exon7:c.501-1G>T;ENST00000586009:exon5:c.392-1G>T;ENST00000590112:exon11:c.2601-1G>T;ENST00000361795:exon14:c.1500-1G>T;ENST00000601019:exon14:c.1500-1G>T;ENST00000603232:exon14:c.1503-1G>T;ENST00000587911:exon5:c.339-1G>T)	.	.	0.999989072007339	0.934
18	34825161	C	G	18	37245198	y	y	splicing	CELF4(NM_001025089:exon13:c.1392-1G>C;NM_020180:exon14:c.1506-1G>C;NM_001025088:exon14:c.1500-1G>C;NM_001025087:exon14:c.1503-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon14:c.1503-1G>C;ENST00000420428:exon14:c.1506-1G>C;ENST00000591287:exon14:c.1500-1G>C;ENST00000334919:exon13:c.1392-1G>C;ENST00000588591:exon7:c.501-1G>C;ENST00000586009:exon5:c.392-1G>C;ENST00000590112:exon11:c.2601-1G>C;ENST00000361795:exon14:c.1500-1G>C;ENST00000601019:exon14:c.1500-1G>C;ENST00000603232:exon14:c.1503-1G>C;ENST00000587911:exon5:c.339-1G>C)	.	.	0.999980428708689	0.936
18	34825161	C	T	18	37245198	y	y	splicing	CELF4(NM_001025089:exon13:c.1392-1G>A;NM_020180:exon14:c.1506-1G>A;NM_001025088:exon14:c.1500-1G>A;NM_001025087:exon14:c.1503-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon14:c.1503-1G>A;ENST00000420428:exon14:c.1506-1G>A;ENST00000591287:exon14:c.1500-1G>A;ENST00000334919:exon13:c.1392-1G>A;ENST00000588591:exon7:c.501-1G>A;ENST00000586009:exon5:c.392-1G>A;ENST00000590112:exon11:c.2601-1G>A;ENST00000361795:exon14:c.1500-1G>A;ENST00000601019:exon14:c.1500-1G>A;ENST00000603232:exon14:c.1503-1G>A;ENST00000587911:exon5:c.339-1G>A)	.	.	0.999989072007339	0.934
18	34825162	T	A	18	37245199	y	y	splicing	CELF4(NM_001025089:exon13:c.1392-2A>T;NM_020180:exon14:c.1506-2A>T;NM_001025088:exon14:c.1500-2A>T;NM_001025087:exon14:c.1503-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon14:c.1503-2A>T;ENST00000420428:exon14:c.1506-2A>T;ENST00000591287:exon14:c.1500-2A>T;ENST00000334919:exon13:c.1392-2A>T;ENST00000588591:exon7:c.501-2A>T;ENST00000586009:exon5:c.392-2A>T;ENST00000590112:exon11:c.2601-2A>T;ENST00000361795:exon14:c.1500-2A>T;ENST00000601019:exon14:c.1500-2A>T;ENST00000603232:exon14:c.1503-2A>T;ENST00000587911:exon5:c.339-2A>T)	.	.	0.999988247793601	0.926
18	34825162	T	C	18	37245199	y	y	splicing	CELF4(NM_001025089:exon13:c.1392-2A>G;NM_020180:exon14:c.1506-2A>G;NM_001025088:exon14:c.1500-2A>G;NM_001025087:exon14:c.1503-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon14:c.1503-2A>G;ENST00000420428:exon14:c.1506-2A>G;ENST00000591287:exon14:c.1500-2A>G;ENST00000334919:exon13:c.1392-2A>G;ENST00000588591:exon7:c.501-2A>G;ENST00000586009:exon5:c.392-2A>G;ENST00000590112:exon11:c.2601-2A>G;ENST00000361795:exon14:c.1500-2A>G;ENST00000601019:exon14:c.1500-2A>G;ENST00000603232:exon14:c.1503-2A>G;ENST00000587911:exon5:c.339-2A>G)	.	.	0.999978952611685	0.928
18	34825162	T	G	18	37245199	y	y	splicing	CELF4(NM_001025089:exon13:c.1392-2A>C;NM_020180:exon14:c.1506-2A>C;NM_001025088:exon14:c.1500-2A>C;NM_001025087:exon14:c.1503-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon14:c.1503-2A>C;ENST00000420428:exon14:c.1506-2A>C;ENST00000591287:exon14:c.1500-2A>C;ENST00000334919:exon13:c.1392-2A>C;ENST00000588591:exon7:c.501-2A>C;ENST00000586009:exon5:c.392-2A>C;ENST00000590112:exon11:c.2601-2A>C;ENST00000361795:exon14:c.1500-2A>C;ENST00000601019:exon14:c.1500-2A>C;ENST00000603232:exon14:c.1503-2A>C;ENST00000587911:exon5:c.339-2A>C)	.	.	0.999978952611685	0.928
18	34825163	A	C	18	37245200	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.997931652991842	0.616
18	34825163	A	G	18	37245200	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	5.92927799503163E-4	0.02
18	34825163	A	T	18	37245200	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.179881978092714	0.388
18	34825164	A	C	18	37245201	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.00549381501176554	0.09
18	34825164	A	G	18	37245201	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.00117729744895594	0.01
18	34825164	A	T	18	37245201	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.00759255692634863	0.104
18	34825165	A	C	18	37245202	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.110217469270019	0.492
18	34825165	A	G	18	37245202	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.018641117918634	0.192
18	34825165	A	T	18	37245202	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.0678300921223883	0.49
18	34825166	A	C	18	37245203	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.999835485548169	0.952
18	34825166	A	G	18	37245203	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.00114330544692649	0.054
18	34825166	A	T	18	37245203	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.0226678093153458	0.236
18	34825167	T	A	18	37245204	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	1.24561126828679E-4	0.006
18	34825167	T	C	18	37245204	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	3.67272766448078E-5	0.0
18	34825167	T	G	18	37245204	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	3.28117201585658E-5	0.0
18	34825168	G	A	18	37245205	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	1.56601868488098E-4	0.01
18	34825168	G	C	18	37245205	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	8.67334385131303E-4	0.098
18	34825168	G	T	18	37245205	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.00335857914389747	0.124
18	34825169	A	C	18	37245206	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.54986390125796	0.462
18	34825169	A	G	18	37245206	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.13726719125418	0.318
18	34825169	A	T	18	37245206	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.444790344128131	0.526
18	34825170	A	C	18	37245207	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.026272676400634	0.24
18	34825170	A	G	18	37245207	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	7.49206120275175E-4	0.08
18	34825170	A	T	18	37245207	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.0261673891661438	0.24
18	34825171	G	A	18	37245208	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.00831257205857034	0.096
18	34825171	G	C	18	37245208	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.03277070093191	0.114
18	34825171	G	T	18	37245208	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.0920464521029915	0.25
18	34825172	A	C	18	37245209	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.766476923106763	0.548
18	34825172	A	G	18	37245209	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.0540765063635649	0.324
18	34825172	A	T	18	37245209	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267707	.	.	0.8788821350469	0.606
18	34827232	C	A	18	37247269	n	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.500444307635611	0.29
18	34827232	C	G	18	37247269	n	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.0444608372008006	0.182
18	34827232	C	T	18	37247269	n	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.500444307635611	0.472
18	34827233	C	A	18	37247270	n	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.500444307635611	0.454
18	34827233	C	G	18	37247270	n	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.500444307635611	0.378
18	34827233	C	T	18	37247270	n	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.500444307635611	0.546
18	34827234	C	A	18	37247271	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489(ENST00000587911:exon4:c.254-1G>T)	.	.	0.903397027408445	0.77
18	34827234	C	G	18	37247271	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489(ENST00000587911:exon4:c.254-1G>C)	.	.	0.888479950838724	0.704
18	34827234	C	T	18	37247271	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489(ENST00000587911:exon4:c.254-1G>A)	.	.	0.939814155331479	0.758
18	34827235	T	A	18	37247272	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489(ENST00000587911:exon4:c.254-2A>T)	.	.	0.457465583783361	0.612
18	34827235	T	C	18	37247272	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489(ENST00000587911:exon4:c.254-2A>G)	.	.	0.2224924074426	0.482
18	34827235	T	G	18	37247272	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489(ENST00000587911:exon4:c.254-2A>C)	.	.	0.2224924074426	0.482
18	34827236	G	A	18	37247273	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.628116602097641	0.564
18	34827236	G	C	18	37247273	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.500444307635611	0.45
18	34827236	G	T	18	37247273	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.500444307635611	0.526
18	34827237	G	A	18	37247274	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.939814155331479	0.76
18	34827237	G	C	18	37247274	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.888479950838724	0.694
18	34827237	G	T	18	37247274	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.903397027408445	0.764
18	34827238	T	A	18	37247275	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00246951062688554	0.058
18	34827238	T	C	18	37247275	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00246951062688554	0.008
18	34827238	T	G	18	37247275	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00246951062688554	0.008
18	34827239	T	A	18	37247276	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.805982474439116	0.686
18	34827239	T	C	18	37247276	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.734144075601218	0.664
18	34827239	T	G	18	37247276	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.760071114368715	0.664
18	34827240	G	A	18	37247277	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0372919369424364	0.054
18	34827240	G	C	18	37247277	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.018010074013781	0.04
18	34827240	G	T	18	37247277	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0276656973908453	0.048
18	34827241	G	A	18	37247278	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.939814155331479	0.764
18	34827241	G	C	18	37247278	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.861237708894343	0.678
18	34827241	G	T	18	37247278	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.888479950838724	0.71
18	34827242	G	A	18	37247279	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.939814155331479	0.764
18	34827242	G	C	18	37247279	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.861237708894343	0.678
18	34827242	G	T	18	37247279	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.888479950838724	0.71
18	34827243	T	A	18	37247280	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.2224924074426	0.432
18	34827243	T	C	18	37247280	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0958613079030355	0.424
18	34827243	T	G	18	37247280	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0958613079030355	0.448
18	34827244	T	A	18	37247281	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.017625284085138	0.144
18	34827244	T	C	18	37247281	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0103654337966686	0.076
18	34827244	T	G	18	37247281	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0103654337966686	0.076
18	34827245	G	A	18	37247282	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.888479950838724	0.714
18	34827245	G	C	18	37247282	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.845185933920769	0.596
18	34827245	G	T	18	37247282	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.861237708894343	0.678
18	34833722	C	A	18	37253759	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.85343247745972E-4	0.0
18	34833722	C	G	18	37253759	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.47152911720616E-5	0.0
18	34833722	C	T	18	37253759	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.67650868408596E-4	0.008
18	34833723	C	A	18	37253760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.69199184006565E-4	0.004
18	34833723	C	G	18	37253760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.37889371729124E-4	0.0
18	34833723	C	T	18	37253760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.37889371729124E-4	0.002
18	34833724	G	A	18	37253761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.02550878664786E-4	0.0
18	34833724	G	C	18	37253761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.33609589453619E-4	0.036
18	34833724	G	T	18	37253761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.58480858703949E-4	0.016
18	34833725	G	A	18	37253762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.219230619856106	0.372
18	34833725	G	C	18	37253762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00789478121442985	0.106
18	34833725	G	T	18	37253762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.177743456477639	0.544
18	34833726	T	A	18	37253763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.995561206252897	0.874
18	34833726	T	C	18	37253763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.991196671608043	0.848
18	34833726	T	G	18	37253763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.980449338243802	0.82
18	34833727	T	A	18	37253764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999975873411709	0.824
18	34833727	T	C	18	37253764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.99650271916287	0.902
18	34833727	T	G	18	37253764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999817206069511	0.874
18	34833728	A	C	18	37253765	y	y	splicing	CELF4(NM_001025089:exon12:c.1391+2T>G;NM_020180:exon13:c.1505+2T>G;NM_001025088:exon13:c.1499+2T>G;NM_001025087:exon13:c.1502+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1502+2T>G;ENST00000420428:exon13:c.1505+2T>G;ENST00000591287:exon13:c.1499+2T>G;ENST00000334919:exon12:c.1391+2T>G;ENST00000588591:exon6:c.500+2T>G;ENST00000586009:exon4:c.391+2T>G;ENST00000590112:exon10:c.2600+2T>G;ENST00000361795:exon13:c.1499+2T>G;ENST00000601019:exon13:c.1499+2T>G;ENST00000603232:exon13:c.1502+2T>G;ENST00000587911:exon3:c.253+2T>G)	.	.	0.999993672935256	0.928
18	34833728	A	G	18	37253765	y	y	splicing	CELF4(NM_001025089:exon12:c.1391+2T>C;NM_020180:exon13:c.1505+2T>C;NM_001025088:exon13:c.1499+2T>C;NM_001025087:exon13:c.1502+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1502+2T>C;ENST00000420428:exon13:c.1505+2T>C;ENST00000591287:exon13:c.1499+2T>C;ENST00000334919:exon12:c.1391+2T>C;ENST00000588591:exon6:c.500+2T>C;ENST00000586009:exon4:c.391+2T>C;ENST00000590112:exon10:c.2600+2T>C;ENST00000361795:exon13:c.1499+2T>C;ENST00000601019:exon13:c.1499+2T>C;ENST00000603232:exon13:c.1502+2T>C;ENST00000587911:exon3:c.253+2T>C)	.	.	0.989732985218383	0.58
18	34833728	A	T	18	37253765	y	y	splicing	CELF4(NM_001025089:exon12:c.1391+2T>A;NM_020180:exon13:c.1505+2T>A;NM_001025088:exon13:c.1499+2T>A;NM_001025087:exon13:c.1502+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1502+2T>A;ENST00000420428:exon13:c.1505+2T>A;ENST00000591287:exon13:c.1499+2T>A;ENST00000334919:exon12:c.1391+2T>A;ENST00000588591:exon6:c.500+2T>A;ENST00000586009:exon4:c.391+2T>A;ENST00000590112:exon10:c.2600+2T>A;ENST00000361795:exon13:c.1499+2T>A;ENST00000601019:exon13:c.1499+2T>A;ENST00000603232:exon13:c.1502+2T>A;ENST00000587911:exon3:c.253+2T>A)	.	.	0.999993672935256	0.928
18	34833729	C	A	18	37253766	y	y	splicing	CELF4(NM_001025089:exon12:c.1391+1G>T;NM_020180:exon13:c.1505+1G>T;NM_001025088:exon13:c.1499+1G>T;NM_001025087:exon13:c.1502+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1502+1G>T;ENST00000420428:exon13:c.1505+1G>T;ENST00000591287:exon13:c.1499+1G>T;ENST00000334919:exon12:c.1391+1G>T;ENST00000588591:exon6:c.500+1G>T;ENST00000586009:exon4:c.391+1G>T;ENST00000590112:exon10:c.2600+1G>T;ENST00000361795:exon13:c.1499+1G>T;ENST00000601019:exon13:c.1499+1G>T;ENST00000603232:exon13:c.1502+1G>T;ENST00000587911:exon3:c.253+1G>T)	.	.	0.999989917668626	0.928
18	34833729	C	G	18	37253766	y	y	splicing	CELF4(NM_001025089:exon12:c.1391+1G>C;NM_020180:exon13:c.1505+1G>C;NM_001025088:exon13:c.1499+1G>C;NM_001025087:exon13:c.1502+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1502+1G>C;ENST00000420428:exon13:c.1505+1G>C;ENST00000591287:exon13:c.1499+1G>C;ENST00000334919:exon12:c.1391+1G>C;ENST00000588591:exon6:c.500+1G>C;ENST00000586009:exon4:c.391+1G>C;ENST00000590112:exon10:c.2600+1G>C;ENST00000361795:exon13:c.1499+1G>C;ENST00000601019:exon13:c.1499+1G>C;ENST00000603232:exon13:c.1502+1G>C;ENST00000587911:exon3:c.253+1G>C)	.	.	0.999989917668626	0.928
18	34833729	C	T	18	37253766	y	y	splicing	CELF4(NM_001025089:exon12:c.1391+1G>A;NM_020180:exon13:c.1505+1G>A;NM_001025088:exon13:c.1499+1G>A;NM_001025087:exon13:c.1502+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1502+1G>A;ENST00000420428:exon13:c.1505+1G>A;ENST00000591287:exon13:c.1499+1G>A;ENST00000334919:exon12:c.1391+1G>A;ENST00000588591:exon6:c.500+1G>A;ENST00000586009:exon4:c.391+1G>A;ENST00000590112:exon10:c.2600+1G>A;ENST00000361795:exon13:c.1499+1G>A;ENST00000601019:exon13:c.1499+1G>A;ENST00000603232:exon13:c.1502+1G>A;ENST00000587911:exon3:c.253+1G>A)	.	.	0.999989917668626	0.928
18	34833730	C	A	18	37253767	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.999826212730024	0.986
18	34833730	C	G	18	37253767	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.999989958422152	0.998
18	34833730	C	T	18	37253767	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.99999275927064	0.998
18	34833731	T	A	18	37253768	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.999907129569894	0.99
18	34833731	T	C	18	37253768	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.999416427736304	0.982
18	34833731	T	G	18	37253768	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.999212887713681	0.96
18	34833732	G	A	18	37253769	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.862875502162274	0.758
18	34833732	G	C	18	37253769	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.00367573959698084	0.02
18	34833732	G	T	18	37253769	y	y	UTR3	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.00831130436761065	0.032
18	34833900	G	A	18	37253937	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon11:c.C1221T:p.G407G;CELF4:NM_001025087:exon12:c.C1332T:p.G444G;CELF4:NM_001025088:exon12:c.C1329T:p.G443G;CELF4:NM_020180:exon12:c.C1335T:p.G445G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon11:c.C1221T:p.G407G;ENSG00000101489:ENST00000601019:exon12:c.C1329T:p.G443G;ENSG00000101489:ENST00000591282:exon12:c.C1335T:p.G445G;ENSG00000101489:ENST00000588591:exon5:c.C330T:p.G110G;ENSG00000101489:ENST00000412753:exon12:c.C1332T:p.G444G;ENSG00000101489:ENST00000591287:exon12:c.C1329T:p.G443G;ENSG00000101489:ENST00000589386:exon6:c.C462T:p.G154G;ENSG00000101489:ENST00000593271:exon5:c.C315T:p.G105G;ENSG00000101489:ENST00000603232:exon12:c.C1332T:p.G444G;ENSG00000101489:ENST00000420428:exon12:c.C1335T:p.G445G;ENSG00000101489:ENST00000361795:exon12:c.C1329T:p.G443G;	0.00751993980149784	0.096
18	34833900	G	C	18	37253937	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon11:c.C1221G:p.G407G;CELF4:NM_001025087:exon12:c.C1332G:p.G444G;CELF4:NM_001025088:exon12:c.C1329G:p.G443G;CELF4:NM_020180:exon12:c.C1335G:p.G445G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon11:c.C1221G:p.G407G;ENSG00000101489:ENST00000601019:exon12:c.C1329G:p.G443G;ENSG00000101489:ENST00000591282:exon12:c.C1335G:p.G445G;ENSG00000101489:ENST00000588591:exon5:c.C330G:p.G110G;ENSG00000101489:ENST00000412753:exon12:c.C1332G:p.G444G;ENSG00000101489:ENST00000591287:exon12:c.C1329G:p.G443G;ENSG00000101489:ENST00000589386:exon6:c.C462G:p.G154G;ENSG00000101489:ENST00000593271:exon5:c.C315G:p.G105G;ENSG00000101489:ENST00000603232:exon12:c.C1332G:p.G444G;ENSG00000101489:ENST00000420428:exon12:c.C1335G:p.G445G;ENSG00000101489:ENST00000361795:exon12:c.C1329G:p.G443G;	0.00184042534472762	0.028
18	34833900	G	T	18	37253937	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon11:c.C1221A:p.G407G;CELF4:NM_001025087:exon12:c.C1332A:p.G444G;CELF4:NM_001025088:exon12:c.C1329A:p.G443G;CELF4:NM_020180:exon12:c.C1335A:p.G445G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon11:c.C1221A:p.G407G;ENSG00000101489:ENST00000601019:exon12:c.C1329A:p.G443G;ENSG00000101489:ENST00000591282:exon12:c.C1335A:p.G445G;ENSG00000101489:ENST00000588591:exon5:c.C330A:p.G110G;ENSG00000101489:ENST00000412753:exon12:c.C1332A:p.G444G;ENSG00000101489:ENST00000591287:exon12:c.C1329A:p.G443G;ENSG00000101489:ENST00000589386:exon6:c.C462A:p.G154G;ENSG00000101489:ENST00000593271:exon5:c.C315A:p.G105G;ENSG00000101489:ENST00000603232:exon12:c.C1332A:p.G444G;ENSG00000101489:ENST00000420428:exon12:c.C1335A:p.G445G;ENSG00000101489:ENST00000361795:exon12:c.C1329A:p.G443G;	0.0119522725614437	0.052
18	34833901	C	A	18	37253938	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon11:c.G1220T:p.G407V;CELF4:NM_001025087:exon12:c.G1331T:p.G444V;CELF4:NM_001025088:exon12:c.G1328T:p.G443V;CELF4:NM_020180:exon12:c.G1334T:p.G445V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon11:c.G1220T:p.G407V;ENSG00000101489:ENST00000601019:exon12:c.G1328T:p.G443V;ENSG00000101489:ENST00000591282:exon12:c.G1334T:p.G445V;ENSG00000101489:ENST00000588591:exon5:c.G329T:p.G110V;ENSG00000101489:ENST00000412753:exon12:c.G1331T:p.G444V;ENSG00000101489:ENST00000591287:exon12:c.G1328T:p.G443V;ENSG00000101489:ENST00000589386:exon6:c.G461T:p.G154V;ENSG00000101489:ENST00000593271:exon5:c.G314T:p.G105V;ENSG00000101489:ENST00000603232:exon12:c.G1331T:p.G444V;ENSG00000101489:ENST00000420428:exon12:c.G1334T:p.G445V;ENSG00000101489:ENST00000361795:exon12:c.G1328T:p.G443V;	0.999375219691266	0.922
18	34833901	C	G	18	37253938	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon11:c.G1220C:p.G407A;CELF4:NM_001025087:exon12:c.G1331C:p.G444A;CELF4:NM_001025088:exon12:c.G1328C:p.G443A;CELF4:NM_020180:exon12:c.G1334C:p.G445A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon11:c.G1220C:p.G407A;ENSG00000101489:ENST00000601019:exon12:c.G1328C:p.G443A;ENSG00000101489:ENST00000591282:exon12:c.G1334C:p.G445A;ENSG00000101489:ENST00000588591:exon5:c.G329C:p.G110A;ENSG00000101489:ENST00000412753:exon12:c.G1331C:p.G444A;ENSG00000101489:ENST00000591287:exon12:c.G1328C:p.G443A;ENSG00000101489:ENST00000589386:exon6:c.G461C:p.G154A;ENSG00000101489:ENST00000593271:exon5:c.G314C:p.G105A;ENSG00000101489:ENST00000603232:exon12:c.G1331C:p.G444A;ENSG00000101489:ENST00000420428:exon12:c.G1334C:p.G445A;ENSG00000101489:ENST00000361795:exon12:c.G1328C:p.G443A;	0.999208377255118	0.976
18	34833901	C	T	18	37253938	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon11:c.G1220A:p.G407D;CELF4:NM_001025087:exon12:c.G1331A:p.G444D;CELF4:NM_001025088:exon12:c.G1328A:p.G443D;CELF4:NM_020180:exon12:c.G1334A:p.G445D;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon11:c.G1220A:p.G407D;ENSG00000101489:ENST00000601019:exon12:c.G1328A:p.G443D;ENSG00000101489:ENST00000591282:exon12:c.G1334A:p.G445D;ENSG00000101489:ENST00000588591:exon5:c.G329A:p.G110D;ENSG00000101489:ENST00000412753:exon12:c.G1331A:p.G444D;ENSG00000101489:ENST00000591287:exon12:c.G1328A:p.G443D;ENSG00000101489:ENST00000589386:exon6:c.G461A:p.G154D;ENSG00000101489:ENST00000593271:exon5:c.G314A:p.G105D;ENSG00000101489:ENST00000603232:exon12:c.G1331A:p.G444D;ENSG00000101489:ENST00000420428:exon12:c.G1334A:p.G445D;ENSG00000101489:ENST00000361795:exon12:c.G1328A:p.G443D;	0.991662329281599	0.828
18	34833902	C	A	18	37253939	y	y	splicing	CELF4(NM_001025089:exon12:c.1220-1G>T;NM_020180:exon13:c.1334-1G>T;NM_001025088:exon13:c.1328-1G>T;NM_001025087:exon13:c.1331-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1331-1G>T;ENST00000420428:exon13:c.1334-1G>T;ENST00000591287:exon13:c.1328-1G>T;ENST00000334919:exon12:c.1220-1G>T;ENST00000588591:exon6:c.329-1G>T;ENST00000586009:exon4:c.220-1G>T;ENST00000590112:exon10:c.2429-1G>T;ENST00000361795:exon13:c.1328-1G>T;ENST00000601019:exon13:c.1328-1G>T;ENST00000603232:exon13:c.1331-1G>T;ENST00000587911:exon3:c.82-1G>T;ENST00000591282:exon13:c.1334-1G>T;ENST00000593271:exon6:c.314-1G>T;ENST00000589386:exon7:c.461-1G>T)	.	.	0.999992076683048	0.94
18	34833902	C	G	18	37253939	y	y	splicing	CELF4(NM_001025089:exon12:c.1220-1G>C;NM_020180:exon13:c.1334-1G>C;NM_001025088:exon13:c.1328-1G>C;NM_001025087:exon13:c.1331-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1331-1G>C;ENST00000420428:exon13:c.1334-1G>C;ENST00000591287:exon13:c.1328-1G>C;ENST00000334919:exon12:c.1220-1G>C;ENST00000588591:exon6:c.329-1G>C;ENST00000586009:exon4:c.220-1G>C;ENST00000590112:exon10:c.2429-1G>C;ENST00000361795:exon13:c.1328-1G>C;ENST00000601019:exon13:c.1328-1G>C;ENST00000603232:exon13:c.1331-1G>C;ENST00000587911:exon3:c.82-1G>C;ENST00000591282:exon13:c.1334-1G>C;ENST00000593271:exon6:c.314-1G>C;ENST00000589386:exon7:c.461-1G>C)	.	.	0.999992076683048	0.94
18	34833902	C	T	18	37253939	y	y	splicing	CELF4(NM_001025089:exon12:c.1220-1G>A;NM_020180:exon13:c.1334-1G>A;NM_001025088:exon13:c.1328-1G>A;NM_001025087:exon13:c.1331-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1331-1G>A;ENST00000420428:exon13:c.1334-1G>A;ENST00000591287:exon13:c.1328-1G>A;ENST00000334919:exon12:c.1220-1G>A;ENST00000588591:exon6:c.329-1G>A;ENST00000586009:exon4:c.220-1G>A;ENST00000590112:exon10:c.2429-1G>A;ENST00000361795:exon13:c.1328-1G>A;ENST00000601019:exon13:c.1328-1G>A;ENST00000603232:exon13:c.1331-1G>A;ENST00000587911:exon3:c.82-1G>A;ENST00000591282:exon13:c.1334-1G>A;ENST00000593271:exon6:c.314-1G>A;ENST00000589386:exon7:c.461-1G>A)	.	.	0.999992076683048	0.94
18	34833903	T	A	18	37253940	y	y	splicing	CELF4(NM_001025089:exon12:c.1220-2A>T;NM_020180:exon13:c.1334-2A>T;NM_001025088:exon13:c.1328-2A>T;NM_001025087:exon13:c.1331-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1331-2A>T;ENST00000420428:exon13:c.1334-2A>T;ENST00000591287:exon13:c.1328-2A>T;ENST00000334919:exon12:c.1220-2A>T;ENST00000588591:exon6:c.329-2A>T;ENST00000586009:exon4:c.220-2A>T;ENST00000590112:exon10:c.2429-2A>T;ENST00000361795:exon13:c.1328-2A>T;ENST00000601019:exon13:c.1328-2A>T;ENST00000603232:exon13:c.1331-2A>T;ENST00000587911:exon3:c.82-2A>T;ENST00000591282:exon13:c.1334-2A>T;ENST00000593271:exon6:c.314-2A>T;ENST00000589386:exon7:c.461-2A>T)	.	.	0.999995027806847	0.936
18	34833903	T	C	18	37253940	y	y	splicing	CELF4(NM_001025089:exon12:c.1220-2A>G;NM_020180:exon13:c.1334-2A>G;NM_001025088:exon13:c.1328-2A>G;NM_001025087:exon13:c.1331-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1331-2A>G;ENST00000420428:exon13:c.1334-2A>G;ENST00000591287:exon13:c.1328-2A>G;ENST00000334919:exon12:c.1220-2A>G;ENST00000588591:exon6:c.329-2A>G;ENST00000586009:exon4:c.220-2A>G;ENST00000590112:exon10:c.2429-2A>G;ENST00000361795:exon13:c.1328-2A>G;ENST00000601019:exon13:c.1328-2A>G;ENST00000603232:exon13:c.1331-2A>G;ENST00000587911:exon3:c.82-2A>G;ENST00000591282:exon13:c.1334-2A>G;ENST00000593271:exon6:c.314-2A>G;ENST00000589386:exon7:c.461-2A>G)	.	.	0.999995027806847	0.936
18	34833903	T	G	18	37253940	y	y	splicing	CELF4(NM_001025089:exon12:c.1220-2A>C;NM_020180:exon13:c.1334-2A>C;NM_001025088:exon13:c.1328-2A>C;NM_001025087:exon13:c.1331-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon13:c.1331-2A>C;ENST00000420428:exon13:c.1334-2A>C;ENST00000591287:exon13:c.1328-2A>C;ENST00000334919:exon12:c.1220-2A>C;ENST00000588591:exon6:c.329-2A>C;ENST00000586009:exon4:c.220-2A>C;ENST00000590112:exon10:c.2429-2A>C;ENST00000361795:exon13:c.1328-2A>C;ENST00000601019:exon13:c.1328-2A>C;ENST00000603232:exon13:c.1331-2A>C;ENST00000587911:exon3:c.82-2A>C;ENST00000591282:exon13:c.1334-2A>C;ENST00000593271:exon6:c.314-2A>C;ENST00000589386:exon7:c.461-2A>C)	.	.	0.999995027806847	0.936
18	34833904	G	A	18	37253941	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0275687621779652	0.142
18	34833904	G	C	18	37253941	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.998058805455362	0.938
18	34833904	G	T	18	37253941	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.989516110368308	0.846
18	34833905	G	A	18	37253942	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00667167630805386	0.146
18	34833905	G	C	18	37253942	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00244050627539561	0.066
18	34833905	G	T	18	37253942	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00338869278646632	0.092
18	34833906	C	A	18	37253943	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.60807627973646E-4	0.01
18	34833906	C	G	18	37253943	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.21518926873508E-4	0.002
18	34833906	C	T	18	37253943	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.4803252800926E-4	0.008
18	34833907	G	A	18	37253944	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0065994489275566	0.106
18	34833907	G	C	18	37253944	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.784010052335664	0.534
18	34833907	G	T	18	37253944	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999918983695764	0.978
18	34833908	A	C	18	37253945	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.91880771974813	0.76
18	34833908	A	G	18	37253945	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.03780031725427E-4	0.09
18	34833908	A	T	18	37253945	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.990442895044549	0.89
18	34833909	G	A	18	37253946	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0014409866602738	0.034
18	34833909	G	C	18	37253946	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00629483039025479	0.07
18	34833909	G	T	18	37253946	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.102312185300907	0.144
18	34833910	A	C	18	37253947	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.997382273848114	0.844
18	34833910	A	G	18	37253947	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.289125806659449	0.322
18	34833910	A	T	18	37253947	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999209246837384	0.874
18	34833911	C	A	18	37253948	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0240245780748205	0.222
18	34833911	C	G	18	37253948	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0223747894665594	0.232
18	34833911	C	T	18	37253948	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.377458734110229	0.36
18	34833912	A	C	18	37253949	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999478994392463	0.926
18	34833912	A	G	18	37253949	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.860807712608362	0.512
18	34833912	A	T	18	37253949	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999984213405594	0.982
18	34833913	C	A	18	37253950	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	8.28853099316258E-5	0.014
18	34833913	C	G	18	37253950	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.12118938671551E-4	0.002
18	34833913	C	T	18	37253950	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00231410782957397	0.058
18	34839136	G	A	18	37259173	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.C1305T:p.V435V;ENSG00000101489:ENST00000589386:exon5:c.C408T:p.V136V;	0.675468395601807	0.504
18	34839136	G	C	18	37259173	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.C1305G:p.V435V;ENSG00000101489:ENST00000589386:exon5:c.C408G:p.V136V;	0.570630183706226	0.332
18	34839136	G	T	18	37259173	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.C1305A:p.V435V;ENSG00000101489:ENST00000589386:exon5:c.C408A:p.V136V;	0.675468395601807	0.438
18	34839137	A	C	18	37259174	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1304G:p.V435G;ENSG00000101489:ENST00000589386:exon5:c.T407G:p.V136G;	0.186319950397422	0.488
18	34839137	A	G	18	37259174	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1304C:p.V435A;ENSG00000101489:ENST00000589386:exon5:c.T407C:p.V136A;	0.110409946369034	0.514
18	34839137	A	T	18	37259174	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1304A:p.V435D;ENSG00000101489:ENST00000589386:exon5:c.T407A:p.V136D;	0.32067372847778	0.52
18	34839138	C	A	18	37259175	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1303T:p.V435F;ENSG00000101489:ENST00000589386:exon5:c.G406T:p.V136F;	0.130297860904229	0.282
18	34839138	C	G	18	37259175	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1303C:p.V435L;ENSG00000101489:ENST00000589386:exon5:c.G406C:p.V136L;	0.788799712688919	0.552
18	34839138	C	T	18	37259175	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1303A:p.V435I;ENSG00000101489:ENST00000589386:exon5:c.G406A:p.V136I;	0.733925012882591	0.56
18	34839139	A	C	18	37259176	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1302G:p.N434K;ENSG00000101489:ENST00000589386:exon5:c.T405G:p.N135K;	3.04944343282826E-4	0.038
18	34839139	A	G	18	37259176	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1302C:p.N434N;ENSG00000101489:ENST00000589386:exon5:c.T405C:p.N135N;	1.04691609123469E-4	0.002
18	34839139	A	T	18	37259176	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1302A:p.N434K;ENSG00000101489:ENST00000589386:exon5:c.T405A:p.N135K;	0.0016926118541849	0.02
18	34839140	T	A	18	37259177	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.A1301T:p.N434I;ENSG00000101489:ENST00000589386:exon5:c.A404T:p.N135I;	0.999633740396061	0.864
18	34839140	T	C	18	37259177	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.A1301G:p.N434S;ENSG00000101489:ENST00000589386:exon5:c.A404G:p.N135S;	0.999888922331759	0.916
18	34839140	T	G	18	37259177	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.A1301C:p.N434T;ENSG00000101489:ENST00000589386:exon5:c.A404C:p.N135T;	0.99814176088489	0.77
18	34839141	T	A	18	37259178	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.A1300T:p.N434Y;ENSG00000101489:ENST00000589386:exon5:c.A403T:p.N135Y;	0.999920422364267	0.936
18	34839141	T	C	18	37259178	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.A1300G:p.N434D;ENSG00000101489:ENST00000589386:exon5:c.A403G:p.N135D;	0.998586050611365	0.96
18	34839141	T	G	18	37259178	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.A1300C:p.N434H;ENSG00000101489:ENST00000589386:exon5:c.A403C:p.N135H;	0.999939008255075	0.984
18	34839142	A	C	18	37259179	y	n	splicing	CELF4(NM_020180:exon12:c.1333+2T>G;NM_001025088:exon12:c.1327+2T>G;NM_001025087:exon12:c.1330+2T>G)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon12:c.1330+2T>G;ENST00000420428:exon12:c.1333+2T>G;ENST00000591287:exon12:c.1327+2T>G;ENST00000590112:exon9:c.2428+2T>G;ENST00000361795:exon12:c.1327+2T>G;ENST00000601019:exon12:c.1327+2T>G;ENST00000603232:exon12:c.1330+2T>G;ENST00000591282:exon12:c.1333+2T>G)	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1299G:p.G433G;ENSG00000101489:ENST00000589386:exon5:c.T402G:p.G134G;	0.999988624979899	0.944
18	34839142	A	G	18	37259179	y	n	splicing	CELF4(NM_020180:exon12:c.1333+2T>C;NM_001025088:exon12:c.1327+2T>C;NM_001025087:exon12:c.1330+2T>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon12:c.1330+2T>C;ENST00000420428:exon12:c.1333+2T>C;ENST00000591287:exon12:c.1327+2T>C;ENST00000590112:exon9:c.2428+2T>C;ENST00000361795:exon12:c.1327+2T>C;ENST00000601019:exon12:c.1327+2T>C;ENST00000603232:exon12:c.1330+2T>C;ENST00000591282:exon12:c.1333+2T>C)	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1299C:p.G433G;ENSG00000101489:ENST00000589386:exon5:c.T402C:p.G134G;	0.99992348130727	0.884
18	34839142	A	T	18	37259179	y	n	splicing	CELF4(NM_020180:exon12:c.1333+2T>A;NM_001025088:exon12:c.1327+2T>A;NM_001025087:exon12:c.1330+2T>A)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon12:c.1330+2T>A;ENST00000420428:exon12:c.1333+2T>A;ENST00000591287:exon12:c.1327+2T>A;ENST00000590112:exon9:c.2428+2T>A;ENST00000361795:exon12:c.1327+2T>A;ENST00000601019:exon12:c.1327+2T>A;ENST00000603232:exon12:c.1330+2T>A;ENST00000591282:exon12:c.1333+2T>A)	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1299A:p.G433G;ENSG00000101489:ENST00000589386:exon5:c.T402A:p.G134G;	0.999988624979899	0.944
18	34839143	C	A	18	37259180	y	n	splicing	CELF4(NM_020180:exon12:c.1333+1G>T;NM_001025088:exon12:c.1327+1G>T;NM_001025087:exon12:c.1330+1G>T)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon12:c.1330+1G>T;ENST00000420428:exon12:c.1333+1G>T;ENST00000591287:exon12:c.1327+1G>T;ENST00000590112:exon9:c.2428+1G>T;ENST00000361795:exon12:c.1327+1G>T;ENST00000601019:exon12:c.1327+1G>T;ENST00000603232:exon12:c.1330+1G>T;ENST00000591282:exon12:c.1333+1G>T)	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1298T:p.G433V;ENSG00000101489:ENST00000589386:exon5:c.G401T:p.G134V;	0.999979422316293	0.95
18	34839143	C	G	18	37259180	y	n	splicing	CELF4(NM_020180:exon12:c.1333+1G>C;NM_001025088:exon12:c.1327+1G>C;NM_001025087:exon12:c.1330+1G>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon12:c.1330+1G>C;ENST00000420428:exon12:c.1333+1G>C;ENST00000591287:exon12:c.1327+1G>C;ENST00000590112:exon9:c.2428+1G>C;ENST00000361795:exon12:c.1327+1G>C;ENST00000601019:exon12:c.1327+1G>C;ENST00000603232:exon12:c.1330+1G>C;ENST00000591282:exon12:c.1333+1G>C)	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1298C:p.G433A;ENSG00000101489:ENST00000589386:exon5:c.G401C:p.G134A;	0.999979422316293	0.95
18	34839143	C	T	18	37259180	y	n	splicing	CELF4(NM_020180:exon12:c.1333+1G>A;NM_001025088:exon12:c.1327+1G>A;NM_001025087:exon12:c.1330+1G>A)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon12:c.1330+1G>A;ENST00000420428:exon12:c.1333+1G>A;ENST00000591287:exon12:c.1327+1G>A;ENST00000590112:exon9:c.2428+1G>A;ENST00000361795:exon12:c.1327+1G>A;ENST00000601019:exon12:c.1327+1G>A;ENST00000603232:exon12:c.1330+1G>A;ENST00000591282:exon12:c.1333+1G>A)	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1298A:p.G433D;ENSG00000101489:ENST00000589386:exon5:c.G401A:p.G134D;	0.999979422316293	0.95
18	34839144	C	A	18	37259181	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.G1330T:p.G444C;CELF4:NM_001025088:exon11:c.G1327T:p.G443C;CELF4:NM_020180:exon11:c.G1333T:p.G445C;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1297T:p.G433C;ENSG00000101489:ENST00000601019:exon11:c.G1327T:p.G443C;ENSG00000101489:ENST00000591282:exon11:c.G1333T:p.G445C;ENSG00000101489:ENST00000412753:exon11:c.G1330T:p.G444C;ENSG00000101489:ENST00000591287:exon11:c.G1327T:p.G443C;ENSG00000101489:ENST00000589386:exon5:c.G400T:p.G134C;ENSG00000101489:ENST00000603232:exon11:c.G1330T:p.G444C;ENSG00000101489:ENST00000420428:exon11:c.G1333T:p.G445C;ENSG00000101489:ENST00000361795:exon11:c.G1327T:p.G443C;	0.999970708022261	1.0
18	34839144	C	G	18	37259181	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.G1330C:p.G444R;CELF4:NM_001025088:exon11:c.G1327C:p.G443R;CELF4:NM_020180:exon11:c.G1333C:p.G445R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1297C:p.G433R;ENSG00000101489:ENST00000601019:exon11:c.G1327C:p.G443R;ENSG00000101489:ENST00000591282:exon11:c.G1333C:p.G445R;ENSG00000101489:ENST00000412753:exon11:c.G1330C:p.G444R;ENSG00000101489:ENST00000591287:exon11:c.G1327C:p.G443R;ENSG00000101489:ENST00000589386:exon5:c.G400C:p.G134R;ENSG00000101489:ENST00000603232:exon11:c.G1330C:p.G444R;ENSG00000101489:ENST00000420428:exon11:c.G1333C:p.G445R;ENSG00000101489:ENST00000361795:exon11:c.G1327C:p.G443R;	0.99999584645542	1.0
18	34839144	C	T	18	37259181	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.G1330A:p.G444S;CELF4:NM_001025088:exon11:c.G1327A:p.G443S;CELF4:NM_020180:exon11:c.G1333A:p.G445S;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1297A:p.G433S;ENSG00000101489:ENST00000601019:exon11:c.G1327A:p.G443S;ENSG00000101489:ENST00000591282:exon11:c.G1333A:p.G445S;ENSG00000101489:ENST00000412753:exon11:c.G1330A:p.G444S;ENSG00000101489:ENST00000591287:exon11:c.G1327A:p.G443S;ENSG00000101489:ENST00000589386:exon5:c.G400A:p.G134S;ENSG00000101489:ENST00000603232:exon11:c.G1330A:p.G444S;ENSG00000101489:ENST00000420428:exon11:c.G1333A:p.G445S;ENSG00000101489:ENST00000361795:exon11:c.G1327A:p.G443S;	0.999993164454153	1.0
18	34839145	G	A	18	37259182	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025087:exon11:c.C1329T:p.F443F;CELF4:NM_001025088:exon11:c.C1326T:p.F442F;CELF4:NM_020180:exon11:c.C1332T:p.F444F;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.C1296T:p.F432F;ENSG00000101489:ENST00000601019:exon11:c.C1326T:p.F442F;ENSG00000101489:ENST00000591282:exon11:c.C1332T:p.F444F;ENSG00000101489:ENST00000412753:exon11:c.C1329T:p.F443F;ENSG00000101489:ENST00000591287:exon11:c.C1326T:p.F442F;ENSG00000101489:ENST00000589386:exon5:c.C399T:p.F133F;ENSG00000101489:ENST00000603232:exon11:c.C1329T:p.F443F;ENSG00000101489:ENST00000587657:exon5:c.C396T:p.F132F;ENSG00000101489:ENST00000420428:exon11:c.C1332T:p.F444F;ENSG00000101489:ENST00000361795:exon11:c.C1326T:p.F442F;	0.697959949307253	0.492
18	34839145	G	C	18	37259182	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.C1329G:p.F443L;CELF4:NM_001025088:exon11:c.C1326G:p.F442L;CELF4:NM_020180:exon11:c.C1332G:p.F444L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.C1296G:p.F432L;ENSG00000101489:ENST00000601019:exon11:c.C1326G:p.F442L;ENSG00000101489:ENST00000591282:exon11:c.C1332G:p.F444L;ENSG00000101489:ENST00000412753:exon11:c.C1329G:p.F443L;ENSG00000101489:ENST00000591287:exon11:c.C1326G:p.F442L;ENSG00000101489:ENST00000589386:exon5:c.C399G:p.F133L;ENSG00000101489:ENST00000603232:exon11:c.C1329G:p.F443L;ENSG00000101489:ENST00000587657:exon5:c.C396G:p.F132L;ENSG00000101489:ENST00000420428:exon11:c.C1332G:p.F444L;ENSG00000101489:ENST00000361795:exon11:c.C1326G:p.F442L;	0.994471018109586	0.756
18	34839145	G	T	18	37259182	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.C1329A:p.F443L;CELF4:NM_001025088:exon11:c.C1326A:p.F442L;CELF4:NM_020180:exon11:c.C1332A:p.F444L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.C1296A:p.F432L;ENSG00000101489:ENST00000601019:exon11:c.C1326A:p.F442L;ENSG00000101489:ENST00000591282:exon11:c.C1332A:p.F444L;ENSG00000101489:ENST00000412753:exon11:c.C1329A:p.F443L;ENSG00000101489:ENST00000591287:exon11:c.C1326A:p.F442L;ENSG00000101489:ENST00000589386:exon5:c.C399A:p.F133L;ENSG00000101489:ENST00000603232:exon11:c.C1329A:p.F443L;ENSG00000101489:ENST00000587657:exon5:c.C396A:p.F132L;ENSG00000101489:ENST00000420428:exon11:c.C1332A:p.F444L;ENSG00000101489:ENST00000361795:exon11:c.C1326A:p.F442L;	0.965154661584244	0.708
18	34839146	A	C	18	37259183	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.T1328G:p.F443C;CELF4:NM_001025088:exon11:c.T1325G:p.F442C;CELF4:NM_020180:exon11:c.T1331G:p.F444C;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1295G:p.F432C;ENSG00000101489:ENST00000601019:exon11:c.T1325G:p.F442C;ENSG00000101489:ENST00000591282:exon11:c.T1331G:p.F444C;ENSG00000101489:ENST00000412753:exon11:c.T1328G:p.F443C;ENSG00000101489:ENST00000591287:exon11:c.T1325G:p.F442C;ENSG00000101489:ENST00000589386:exon5:c.T398G:p.F133C;ENSG00000101489:ENST00000603232:exon11:c.T1328G:p.F443C;ENSG00000101489:ENST00000587657:exon5:c.T395G:p.F132C;ENSG00000101489:ENST00000420428:exon11:c.T1331G:p.F444C;ENSG00000101489:ENST00000361795:exon11:c.T1325G:p.F442C;	0.658747430025157	0.736
18	34839146	A	G	18	37259183	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.T1328C:p.F443S;CELF4:NM_001025088:exon11:c.T1325C:p.F442S;CELF4:NM_020180:exon11:c.T1331C:p.F444S;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1295C:p.F432S;ENSG00000101489:ENST00000601019:exon11:c.T1325C:p.F442S;ENSG00000101489:ENST00000591282:exon11:c.T1331C:p.F444S;ENSG00000101489:ENST00000412753:exon11:c.T1328C:p.F443S;ENSG00000101489:ENST00000591287:exon11:c.T1325C:p.F442S;ENSG00000101489:ENST00000589386:exon5:c.T398C:p.F133S;ENSG00000101489:ENST00000603232:exon11:c.T1328C:p.F443S;ENSG00000101489:ENST00000587657:exon5:c.T395C:p.F132S;ENSG00000101489:ENST00000420428:exon11:c.T1331C:p.F444S;ENSG00000101489:ENST00000361795:exon11:c.T1325C:p.F442S;	0.594160191072893	0.666
18	34839146	A	T	18	37259183	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.T1328A:p.F443Y;CELF4:NM_001025088:exon11:c.T1325A:p.F442Y;CELF4:NM_020180:exon11:c.T1331A:p.F444Y;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.T1295A:p.F432Y;ENSG00000101489:ENST00000601019:exon11:c.T1325A:p.F442Y;ENSG00000101489:ENST00000591282:exon11:c.T1331A:p.F444Y;ENSG00000101489:ENST00000412753:exon11:c.T1328A:p.F443Y;ENSG00000101489:ENST00000591287:exon11:c.T1325A:p.F442Y;ENSG00000101489:ENST00000589386:exon5:c.T398A:p.F133Y;ENSG00000101489:ENST00000603232:exon11:c.T1328A:p.F443Y;ENSG00000101489:ENST00000587657:exon5:c.T395A:p.F132Y;ENSG00000101489:ENST00000420428:exon11:c.T1331A:p.F444Y;ENSG00000101489:ENST00000361795:exon11:c.T1325A:p.F442Y;	0.594160191072893	0.714
18	34839226	C	A	18	37259263	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025087:exon11:c.G1248T:p.G416G;CELF4:NM_001025088:exon11:c.G1245T:p.G415G;CELF4:NM_020180:exon11:c.G1251T:p.G417G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1215T:p.G405G;ENSG00000101489:ENST00000601019:exon11:c.G1245T:p.G415G;ENSG00000101489:ENST00000591282:exon11:c.G1251T:p.G417G;ENSG00000101489:ENST00000412753:exon11:c.G1248T:p.G416G;ENSG00000101489:ENST00000591287:exon11:c.G1245T:p.G415G;ENSG00000101489:ENST00000589386:exon5:c.G318T:p.G106G;ENSG00000101489:ENST00000603232:exon11:c.G1248T:p.G416G;ENSG00000101489:ENST00000587657:exon5:c.G315T:p.G105G;ENSG00000101489:ENST00000420428:exon11:c.G1251T:p.G417G;ENSG00000101489:ENST00000361795:exon11:c.G1245T:p.G415G;	9.20079435905013E-4	0.012
18	34839226	C	G	18	37259263	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025087:exon11:c.G1248C:p.G416G;CELF4:NM_001025088:exon11:c.G1245C:p.G415G;CELF4:NM_020180:exon11:c.G1251C:p.G417G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1215C:p.G405G;ENSG00000101489:ENST00000601019:exon11:c.G1245C:p.G415G;ENSG00000101489:ENST00000591282:exon11:c.G1251C:p.G417G;ENSG00000101489:ENST00000412753:exon11:c.G1248C:p.G416G;ENSG00000101489:ENST00000591287:exon11:c.G1245C:p.G415G;ENSG00000101489:ENST00000589386:exon5:c.G318C:p.G106G;ENSG00000101489:ENST00000603232:exon11:c.G1248C:p.G416G;ENSG00000101489:ENST00000587657:exon5:c.G315C:p.G105G;ENSG00000101489:ENST00000420428:exon11:c.G1251C:p.G417G;ENSG00000101489:ENST00000361795:exon11:c.G1245C:p.G415G;	8.70372335136667E-4	0.012
18	34839226	C	T	18	37259263	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025087:exon11:c.G1248A:p.G416G;CELF4:NM_001025088:exon11:c.G1245A:p.G415G;CELF4:NM_020180:exon11:c.G1251A:p.G417G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1215A:p.G405G;ENSG00000101489:ENST00000601019:exon11:c.G1245A:p.G415G;ENSG00000101489:ENST00000591282:exon11:c.G1251A:p.G417G;ENSG00000101489:ENST00000412753:exon11:c.G1248A:p.G416G;ENSG00000101489:ENST00000591287:exon11:c.G1245A:p.G415G;ENSG00000101489:ENST00000589386:exon5:c.G318A:p.G106G;ENSG00000101489:ENST00000603232:exon11:c.G1248A:p.G416G;ENSG00000101489:ENST00000587657:exon5:c.G315A:p.G105G;ENSG00000101489:ENST00000420428:exon11:c.G1251A:p.G417G;ENSG00000101489:ENST00000361795:exon11:c.G1245A:p.G415G;	0.00122721060674893	0.056
18	34839227	C	A	18	37259264	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.G1247T:p.G416V;CELF4:NM_001025088:exon11:c.G1244T:p.G415V;CELF4:NM_020180:exon11:c.G1250T:p.G417V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1214T:p.G405V;ENSG00000101489:ENST00000601019:exon11:c.G1244T:p.G415V;ENSG00000101489:ENST00000591282:exon11:c.G1250T:p.G417V;ENSG00000101489:ENST00000412753:exon11:c.G1247T:p.G416V;ENSG00000101489:ENST00000591287:exon11:c.G1244T:p.G415V;ENSG00000101489:ENST00000589386:exon5:c.G317T:p.G106V;ENSG00000101489:ENST00000603232:exon11:c.G1247T:p.G416V;ENSG00000101489:ENST00000587657:exon5:c.G314T:p.G105V;ENSG00000101489:ENST00000420428:exon11:c.G1250T:p.G417V;ENSG00000101489:ENST00000361795:exon11:c.G1244T:p.G415V;	0.999797024709288	0.972
18	34839227	C	G	18	37259264	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.G1247C:p.G416A;CELF4:NM_001025088:exon11:c.G1244C:p.G415A;CELF4:NM_020180:exon11:c.G1250C:p.G417A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1214C:p.G405A;ENSG00000101489:ENST00000601019:exon11:c.G1244C:p.G415A;ENSG00000101489:ENST00000591282:exon11:c.G1250C:p.G417A;ENSG00000101489:ENST00000412753:exon11:c.G1247C:p.G416A;ENSG00000101489:ENST00000591287:exon11:c.G1244C:p.G415A;ENSG00000101489:ENST00000589386:exon5:c.G317C:p.G106A;ENSG00000101489:ENST00000603232:exon11:c.G1247C:p.G416A;ENSG00000101489:ENST00000587657:exon5:c.G314C:p.G105A;ENSG00000101489:ENST00000420428:exon11:c.G1250C:p.G417A;ENSG00000101489:ENST00000361795:exon11:c.G1244C:p.G415A;	0.999550216743816	0.976
18	34839227	C	T	18	37259264	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon11:c.G1247A:p.G416E;CELF4:NM_001025088:exon11:c.G1244A:p.G415E;CELF4:NM_020180:exon11:c.G1250A:p.G417E;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000588597:exon11:c.G1214A:p.G405E;ENSG00000101489:ENST00000601019:exon11:c.G1244A:p.G415E;ENSG00000101489:ENST00000591282:exon11:c.G1250A:p.G417E;ENSG00000101489:ENST00000412753:exon11:c.G1247A:p.G416E;ENSG00000101489:ENST00000591287:exon11:c.G1244A:p.G415E;ENSG00000101489:ENST00000589386:exon5:c.G317A:p.G106E;ENSG00000101489:ENST00000603232:exon11:c.G1247A:p.G416E;ENSG00000101489:ENST00000587657:exon5:c.G314A:p.G105E;ENSG00000101489:ENST00000420428:exon11:c.G1250A:p.G417E;ENSG00000101489:ENST00000361795:exon11:c.G1244A:p.G415E;	0.997809040369515	0.852
18	34839228	C	A	18	37259265	y	y	splicing	CELF4(NM_020180:exon12:c.1250-1G>T;NM_001025088:exon12:c.1244-1G>T;NM_001025087:exon12:c.1247-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon12:c.1247-1G>T;ENST00000420428:exon12:c.1250-1G>T;ENST00000591287:exon12:c.1244-1G>T;ENST00000590112:exon9:c.2345-1G>T;ENST00000361795:exon12:c.1244-1G>T;ENST00000601019:exon12:c.1244-1G>T;ENST00000603232:exon12:c.1247-1G>T;ENST00000591282:exon12:c.1250-1G>T;ENST00000589386:exon6:c.317-1G>T;ENST00000588597:exon12:c.1214-1G>T;ENST00000587657:exon6:c.314-1G>T)	.	.	0.999981760802075	0.944
18	34839228	C	G	18	37259265	y	y	splicing	CELF4(NM_020180:exon12:c.1250-1G>C;NM_001025088:exon12:c.1244-1G>C;NM_001025087:exon12:c.1247-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon12:c.1247-1G>C;ENST00000420428:exon12:c.1250-1G>C;ENST00000591287:exon12:c.1244-1G>C;ENST00000590112:exon9:c.2345-1G>C;ENST00000361795:exon12:c.1244-1G>C;ENST00000601019:exon12:c.1244-1G>C;ENST00000603232:exon12:c.1247-1G>C;ENST00000591282:exon12:c.1250-1G>C;ENST00000589386:exon6:c.317-1G>C;ENST00000588597:exon12:c.1214-1G>C;ENST00000587657:exon6:c.314-1G>C)	.	.	0.999981760802075	0.944
18	34839228	C	T	18	37259265	y	y	splicing	CELF4(NM_020180:exon12:c.1250-1G>A;NM_001025088:exon12:c.1244-1G>A;NM_001025087:exon12:c.1247-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon12:c.1247-1G>A;ENST00000420428:exon12:c.1250-1G>A;ENST00000591287:exon12:c.1244-1G>A;ENST00000590112:exon9:c.2345-1G>A;ENST00000361795:exon12:c.1244-1G>A;ENST00000601019:exon12:c.1244-1G>A;ENST00000603232:exon12:c.1247-1G>A;ENST00000591282:exon12:c.1250-1G>A;ENST00000589386:exon6:c.317-1G>A;ENST00000588597:exon12:c.1214-1G>A;ENST00000587657:exon6:c.314-1G>A)	.	.	0.999981760802075	0.944
18	34839229	T	A	18	37259266	y	y	splicing	CELF4(NM_020180:exon12:c.1250-2A>T;NM_001025088:exon12:c.1244-2A>T;NM_001025087:exon12:c.1247-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon12:c.1247-2A>T;ENST00000420428:exon12:c.1250-2A>T;ENST00000591287:exon12:c.1244-2A>T;ENST00000590112:exon9:c.2345-2A>T;ENST00000361795:exon12:c.1244-2A>T;ENST00000601019:exon12:c.1244-2A>T;ENST00000603232:exon12:c.1247-2A>T;ENST00000591282:exon12:c.1250-2A>T;ENST00000589386:exon6:c.317-2A>T;ENST00000588597:exon12:c.1214-2A>T;ENST00000587657:exon6:c.314-2A>T)	.	.	0.999989917668626	0.928
18	34839229	T	C	18	37259266	y	y	splicing	CELF4(NM_020180:exon12:c.1250-2A>G;NM_001025088:exon12:c.1244-2A>G;NM_001025087:exon12:c.1247-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon12:c.1247-2A>G;ENST00000420428:exon12:c.1250-2A>G;ENST00000591287:exon12:c.1244-2A>G;ENST00000590112:exon9:c.2345-2A>G;ENST00000361795:exon12:c.1244-2A>G;ENST00000601019:exon12:c.1244-2A>G;ENST00000603232:exon12:c.1247-2A>G;ENST00000591282:exon12:c.1250-2A>G;ENST00000589386:exon6:c.317-2A>G;ENST00000588597:exon12:c.1214-2A>G;ENST00000587657:exon6:c.314-2A>G)	.	.	0.999989917668626	0.928
18	34839229	T	G	18	37259266	y	y	splicing	CELF4(NM_020180:exon12:c.1250-2A>C;NM_001025088:exon12:c.1244-2A>C;NM_001025087:exon12:c.1247-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon12:c.1247-2A>C;ENST00000420428:exon12:c.1250-2A>C;ENST00000591287:exon12:c.1244-2A>C;ENST00000590112:exon9:c.2345-2A>C;ENST00000361795:exon12:c.1244-2A>C;ENST00000601019:exon12:c.1244-2A>C;ENST00000603232:exon12:c.1247-2A>C;ENST00000591282:exon12:c.1250-2A>C;ENST00000589386:exon6:c.317-2A>C;ENST00000588597:exon12:c.1214-2A>C;ENST00000587657:exon6:c.314-2A>C)	.	.	0.999989917668626	0.928
18	34839230	G	A	18	37259267	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.2564028527178	0.142
18	34839230	G	C	18	37259267	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999872703609105	0.966
18	34839230	G	T	18	37259267	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.998663680420505	0.936
18	34839231	C	A	18	37259268	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0112479178146958	0.084
18	34839231	C	G	18	37259268	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00332016571358562	0.04
18	34839231	C	T	18	37259268	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00951125906482215	0.038
18	34839232	G	A	18	37259269	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00208253325136817	0.008
18	34839232	G	C	18	37259269	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.297074341536422	0.328
18	34839232	G	T	18	37259269	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999806333902126	0.834
18	34839233	G	A	18	37259270	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00166535121750236	0.098
18	34839233	G	C	18	37259270	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.99968370973458	0.928
18	34839233	G	T	18	37259270	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.446632944168672	0.398
18	34839234	T	A	18	37259271	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.496919445721E-4	0.02
18	34839234	T	C	18	37259271	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00740623374043875	0.016
18	34839234	T	G	18	37259271	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0016864392532398	0.03
18	34839235	G	A	18	37259272	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0036651762842931	0.098
18	34839235	G	C	18	37259272	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.170438963994636	0.3
18	34839235	G	T	18	37259272	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.200819631977158	0.308
18	34839236	A	C	18	37259273	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.30833304864698E-4	0.176
18	34839236	A	G	18	37259273	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.42298157880176E-5	0.026
18	34839236	A	T	18	37259273	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.86482241521273E-4	0.2
18	34839237	G	A	18	37259274	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0768859359524254	0.502
18	34839237	G	C	18	37259274	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0619847256278714	0.272
18	34839237	G	T	18	37259274	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.043691822636718	0.29
18	34839238	G	A	18	37259275	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.945865707204339	0.7
18	34839238	G	C	18	37259275	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.917994897411551	0.662
18	34839238	G	T	18	37259275	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.883946247323984	0.664
18	34839239	G	A	18	37259276	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.915489416260114	0.74
18	34839239	G	C	18	37259276	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.796194381210058	0.672
18	34839239	G	T	18	37259276	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.958197046251734	0.674
18	34844629	A	C	18	37264666	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00321655762184507	0.016
18	34844629	A	G	18	37264666	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00768169207291922	0.024
18	34844629	A	T	18	37264666	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00318320130771389	0.02
18	34844630	G	A	18	37264667	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.01342751532363E-5	0.0
18	34844630	G	C	18	37264667	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.01342751532363E-5	0.0
18	34844630	G	T	18	37264667	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.40839623268995E-5	0.0
18	34844631	A	C	18	37264668	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0584471613574049	0.298
18	34844631	A	G	18	37264668	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.142204663117896	0.31
18	34844631	A	T	18	37264668	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.653383717133854	0.426
18	34844632	C	A	18	37264669	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999619474778583	0.916
18	34844632	C	G	18	37264669	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.998619928421341	0.828
18	34844632	C	T	18	37264669	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999309030585477	0.904
18	34844633	T	A	18	37264670	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.858625484882344	0.576
18	34844633	T	C	18	37264670	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.675396887982704	0.512
18	34844633	T	G	18	37264670	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.201519111568646	0.326
18	34844634	C	A	18	37264671	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.721997663875873	0.45
18	34844634	C	G	18	37264671	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.962157043476833	0.524
18	34844634	C	T	18	37264671	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0042691083692039	0.058
18	34844635	A	C	18	37264672	y	y	splicing	CELF4(NM_001025089:exon11:c.1219+2T>G;NM_020180:exon11:c.1249+2T>G;NM_001025088:exon11:c.1243+2T>G;NM_001025087:exon11:c.1246+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1246+2T>G;ENST00000420428:exon11:c.1249+2T>G;ENST00000591287:exon11:c.1243+2T>G;ENST00000334919:exon11:c.1219+2T>G;ENST00000588591:exon5:c.328+2T>G;ENST00000590112:exon8:c.2344+2T>G;ENST00000361795:exon11:c.1243+2T>G;ENST00000601019:exon11:c.1243+2T>G;ENST00000603232:exon11:c.1246+2T>G;ENST00000587911:exon2:c.81+2T>G;ENST00000591282:exon11:c.1249+2T>G;ENST00000593271:exon5:c.313+2T>G;ENST00000589386:exon5:c.316+2T>G;ENST00000588597:exon11:c.1213+2T>G;ENST00000587657:exon5:c.313+2T>G)	.	.	0.999988247793601	0.93
18	34844635	A	G	18	37264672	y	y	splicing	CELF4(NM_001025089:exon11:c.1219+2T>C;NM_020180:exon11:c.1249+2T>C;NM_001025088:exon11:c.1243+2T>C;NM_001025087:exon11:c.1246+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1246+2T>C;ENST00000420428:exon11:c.1249+2T>C;ENST00000591287:exon11:c.1243+2T>C;ENST00000334919:exon11:c.1219+2T>C;ENST00000588591:exon5:c.328+2T>C;ENST00000590112:exon8:c.2344+2T>C;ENST00000361795:exon11:c.1243+2T>C;ENST00000601019:exon11:c.1243+2T>C;ENST00000603232:exon11:c.1246+2T>C;ENST00000587911:exon2:c.81+2T>C;ENST00000591282:exon11:c.1249+2T>C;ENST00000593271:exon5:c.313+2T>C;ENST00000589386:exon5:c.316+2T>C;ENST00000588597:exon11:c.1213+2T>C;ENST00000587657:exon5:c.313+2T>C)	.	.	0.999945827492243	0.866
18	34844635	A	T	18	37264672	y	y	splicing	CELF4(NM_001025089:exon11:c.1219+2T>A;NM_020180:exon11:c.1249+2T>A;NM_001025088:exon11:c.1243+2T>A;NM_001025087:exon11:c.1246+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1246+2T>A;ENST00000420428:exon11:c.1249+2T>A;ENST00000591287:exon11:c.1243+2T>A;ENST00000334919:exon11:c.1219+2T>A;ENST00000588591:exon5:c.328+2T>A;ENST00000590112:exon8:c.2344+2T>A;ENST00000361795:exon11:c.1243+2T>A;ENST00000601019:exon11:c.1243+2T>A;ENST00000603232:exon11:c.1246+2T>A;ENST00000587911:exon2:c.81+2T>A;ENST00000591282:exon11:c.1249+2T>A;ENST00000593271:exon5:c.313+2T>A;ENST00000589386:exon5:c.316+2T>A;ENST00000588597:exon11:c.1213+2T>A;ENST00000587657:exon5:c.313+2T>A)	.	.	0.999988247793601	0.93
18	34844636	C	A	18	37264673	y	y	splicing	CELF4(NM_001025089:exon11:c.1219+1G>T;NM_020180:exon11:c.1249+1G>T;NM_001025088:exon11:c.1243+1G>T;NM_001025087:exon11:c.1246+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1246+1G>T;ENST00000420428:exon11:c.1249+1G>T;ENST00000591287:exon11:c.1243+1G>T;ENST00000334919:exon11:c.1219+1G>T;ENST00000588591:exon5:c.328+1G>T;ENST00000590112:exon8:c.2344+1G>T;ENST00000361795:exon11:c.1243+1G>T;ENST00000601019:exon11:c.1243+1G>T;ENST00000603232:exon11:c.1246+1G>T;ENST00000587911:exon2:c.81+1G>T;ENST00000591282:exon11:c.1249+1G>T;ENST00000593271:exon5:c.313+1G>T;ENST00000589386:exon5:c.316+1G>T;ENST00000588597:exon11:c.1213+1G>T;ENST00000587657:exon5:c.313+1G>T)	.	.	0.999990361384395	0.938
18	34844636	C	G	18	37264673	y	y	splicing	CELF4(NM_001025089:exon11:c.1219+1G>C;NM_020180:exon11:c.1249+1G>C;NM_001025088:exon11:c.1243+1G>C;NM_001025087:exon11:c.1246+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1246+1G>C;ENST00000420428:exon11:c.1249+1G>C;ENST00000591287:exon11:c.1243+1G>C;ENST00000334919:exon11:c.1219+1G>C;ENST00000588591:exon5:c.328+1G>C;ENST00000590112:exon8:c.2344+1G>C;ENST00000361795:exon11:c.1243+1G>C;ENST00000601019:exon11:c.1243+1G>C;ENST00000603232:exon11:c.1246+1G>C;ENST00000587911:exon2:c.81+1G>C;ENST00000591282:exon11:c.1249+1G>C;ENST00000593271:exon5:c.313+1G>C;ENST00000589386:exon5:c.316+1G>C;ENST00000588597:exon11:c.1213+1G>C;ENST00000587657:exon5:c.313+1G>C)	.	.	0.999990361384395	0.938
18	34844636	C	T	18	37264673	y	y	splicing	CELF4(NM_001025089:exon11:c.1219+1G>A;NM_020180:exon11:c.1249+1G>A;NM_001025088:exon11:c.1243+1G>A;NM_001025087:exon11:c.1246+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1246+1G>A;ENST00000420428:exon11:c.1249+1G>A;ENST00000591287:exon11:c.1243+1G>A;ENST00000334919:exon11:c.1219+1G>A;ENST00000588591:exon5:c.328+1G>A;ENST00000590112:exon8:c.2344+1G>A;ENST00000361795:exon11:c.1243+1G>A;ENST00000601019:exon11:c.1243+1G>A;ENST00000603232:exon11:c.1246+1G>A;ENST00000587911:exon2:c.81+1G>A;ENST00000591282:exon11:c.1249+1G>A;ENST00000593271:exon5:c.313+1G>A;ENST00000589386:exon5:c.316+1G>A;ENST00000588597:exon11:c.1213+1G>A;ENST00000587657:exon5:c.313+1G>A)	.	.	0.999990361384395	0.938
18	34844637	C	A	18	37264674	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.G1219T:p.G407C;CELF4:NM_001025087:exon10:c.G1246T:p.G416W;CELF4:NM_001025088:exon10:c.G1243T:p.G415W;CELF4:NM_020180:exon10:c.G1249T:p.G417W;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.G1219T:p.G407C;ENSG00000101489:ENST00000588597:exon10:c.G1213T:p.G405W;ENSG00000101489:ENST00000601019:exon10:c.G1243T:p.G415W;ENSG00000101489:ENST00000591282:exon10:c.G1249T:p.G417W;ENSG00000101489:ENST00000588591:exon4:c.G328T:p.G110C;ENSG00000101489:ENST00000412753:exon10:c.G1246T:p.G416W;ENSG00000101489:ENST00000591287:exon10:c.G1243T:p.G415W;ENSG00000101489:ENST00000589386:exon4:c.G316T:p.G106W;ENSG00000101489:ENST00000593271:exon4:c.G313T:p.G105C;ENSG00000101489:ENST00000603232:exon10:c.G1246T:p.G416W;ENSG00000101489:ENST00000587657:exon4:c.G313T:p.G105W;ENSG00000101489:ENST00000420428:exon10:c.G1249T:p.G417W;ENSG00000101489:ENST00000361795:exon10:c.G1243T:p.G415W;	0.999796561132505	0.958
18	34844637	C	G	18	37264674	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.G1219C:p.G407R;CELF4:NM_001025087:exon10:c.G1246C:p.G416R;CELF4:NM_001025088:exon10:c.G1243C:p.G415R;CELF4:NM_020180:exon10:c.G1249C:p.G417R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.G1219C:p.G407R;ENSG00000101489:ENST00000588597:exon10:c.G1213C:p.G405R;ENSG00000101489:ENST00000601019:exon10:c.G1243C:p.G415R;ENSG00000101489:ENST00000591282:exon10:c.G1249C:p.G417R;ENSG00000101489:ENST00000588591:exon4:c.G328C:p.G110R;ENSG00000101489:ENST00000412753:exon10:c.G1246C:p.G416R;ENSG00000101489:ENST00000591287:exon10:c.G1243C:p.G415R;ENSG00000101489:ENST00000589386:exon4:c.G316C:p.G106R;ENSG00000101489:ENST00000593271:exon4:c.G313C:p.G105R;ENSG00000101489:ENST00000603232:exon10:c.G1246C:p.G416R;ENSG00000101489:ENST00000587657:exon4:c.G313C:p.G105R;ENSG00000101489:ENST00000420428:exon10:c.G1249C:p.G417R;ENSG00000101489:ENST00000361795:exon10:c.G1243C:p.G415R;	0.999920992721361	0.92
18	34844637	C	T	18	37264674	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.G1219A:p.G407S;CELF4:NM_001025087:exon10:c.G1246A:p.G416R;CELF4:NM_001025088:exon10:c.G1243A:p.G415R;CELF4:NM_020180:exon10:c.G1249A:p.G417R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.G1219A:p.G407S;ENSG00000101489:ENST00000588597:exon10:c.G1213A:p.G405R;ENSG00000101489:ENST00000601019:exon10:c.G1243A:p.G415R;ENSG00000101489:ENST00000591282:exon10:c.G1249A:p.G417R;ENSG00000101489:ENST00000588591:exon4:c.G328A:p.G110S;ENSG00000101489:ENST00000412753:exon10:c.G1246A:p.G416R;ENSG00000101489:ENST00000591287:exon10:c.G1243A:p.G415R;ENSG00000101489:ENST00000589386:exon4:c.G316A:p.G106R;ENSG00000101489:ENST00000593271:exon4:c.G313A:p.G105S;ENSG00000101489:ENST00000603232:exon10:c.G1246A:p.G416R;ENSG00000101489:ENST00000587657:exon4:c.G313A:p.G105R;ENSG00000101489:ENST00000420428:exon10:c.G1249A:p.G417R;ENSG00000101489:ENST00000361795:exon10:c.G1243A:p.G415R;	0.999942476779123	0.944
18	34844638	T	A	18	37264675	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.A1218T:p.E406D;CELF4:NM_001025087:exon10:c.A1245T:p.E415D;CELF4:NM_001025088:exon10:c.A1242T:p.E414D;CELF4:NM_020180:exon10:c.A1248T:p.E416D;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1218T:p.E406D;ENSG00000101489:ENST00000588597:exon10:c.A1212T:p.E404D;ENSG00000101489:ENST00000601019:exon10:c.A1242T:p.E414D;ENSG00000101489:ENST00000591282:exon10:c.A1248T:p.E416D;ENSG00000101489:ENST00000588591:exon4:c.A327T:p.E109D;ENSG00000101489:ENST00000412753:exon10:c.A1245T:p.E415D;ENSG00000101489:ENST00000591287:exon10:c.A1242T:p.E414D;ENSG00000101489:ENST00000589386:exon4:c.A315T:p.E105D;ENSG00000101489:ENST00000593271:exon4:c.A312T:p.E104D;ENSG00000101489:ENST00000603232:exon10:c.A1245T:p.E415D;ENSG00000101489:ENST00000587657:exon4:c.A312T:p.E104D;ENSG00000101489:ENST00000420428:exon10:c.A1248T:p.E416D;ENSG00000101489:ENST00000361795:exon10:c.A1242T:p.E414D;	0.463887490487784	0.448
18	34844638	T	C	18	37264675	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon10:c.A1218G:p.E406E;CELF4:NM_001025087:exon10:c.A1245G:p.E415E;CELF4:NM_001025088:exon10:c.A1242G:p.E414E;CELF4:NM_020180:exon10:c.A1248G:p.E416E;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1218G:p.E406E;ENSG00000101489:ENST00000588597:exon10:c.A1212G:p.E404E;ENSG00000101489:ENST00000601019:exon10:c.A1242G:p.E414E;ENSG00000101489:ENST00000591282:exon10:c.A1248G:p.E416E;ENSG00000101489:ENST00000588591:exon4:c.A327G:p.E109E;ENSG00000101489:ENST00000412753:exon10:c.A1245G:p.E415E;ENSG00000101489:ENST00000591287:exon10:c.A1242G:p.E414E;ENSG00000101489:ENST00000589386:exon4:c.A315G:p.E105E;ENSG00000101489:ENST00000593271:exon4:c.A312G:p.E104E;ENSG00000101489:ENST00000603232:exon10:c.A1245G:p.E415E;ENSG00000101489:ENST00000587657:exon4:c.A312G:p.E104E;ENSG00000101489:ENST00000420428:exon10:c.A1248G:p.E416E;ENSG00000101489:ENST00000361795:exon10:c.A1242G:p.E414E;	0.101121149279334	0.4
18	34844638	T	G	18	37264675	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.A1218C:p.E406D;CELF4:NM_001025087:exon10:c.A1245C:p.E415D;CELF4:NM_001025088:exon10:c.A1242C:p.E414D;CELF4:NM_020180:exon10:c.A1248C:p.E416D;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1218C:p.E406D;ENSG00000101489:ENST00000588597:exon10:c.A1212C:p.E404D;ENSG00000101489:ENST00000601019:exon10:c.A1242C:p.E414D;ENSG00000101489:ENST00000591282:exon10:c.A1248C:p.E416D;ENSG00000101489:ENST00000588591:exon4:c.A327C:p.E109D;ENSG00000101489:ENST00000412753:exon10:c.A1245C:p.E415D;ENSG00000101489:ENST00000591287:exon10:c.A1242C:p.E414D;ENSG00000101489:ENST00000589386:exon4:c.A315C:p.E105D;ENSG00000101489:ENST00000593271:exon4:c.A312C:p.E104D;ENSG00000101489:ENST00000603232:exon10:c.A1245C:p.E415D;ENSG00000101489:ENST00000587657:exon4:c.A312C:p.E104D;ENSG00000101489:ENST00000420428:exon10:c.A1248C:p.E416D;ENSG00000101489:ENST00000361795:exon10:c.A1242C:p.E414D;	0.325751522580309	0.618
18	34844639	T	A	18	37264676	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.A1217T:p.E406V;CELF4:NM_001025087:exon10:c.A1244T:p.E415V;CELF4:NM_001025088:exon10:c.A1241T:p.E414V;CELF4:NM_020180:exon10:c.A1247T:p.E416V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1217T:p.E406V;ENSG00000101489:ENST00000588597:exon10:c.A1211T:p.E404V;ENSG00000101489:ENST00000601019:exon10:c.A1241T:p.E414V;ENSG00000101489:ENST00000591282:exon10:c.A1247T:p.E416V;ENSG00000101489:ENST00000588591:exon4:c.A326T:p.E109V;ENSG00000101489:ENST00000412753:exon10:c.A1244T:p.E415V;ENSG00000101489:ENST00000591287:exon10:c.A1241T:p.E414V;ENSG00000101489:ENST00000589386:exon4:c.A314T:p.E105V;ENSG00000101489:ENST00000593271:exon4:c.A311T:p.E104V;ENSG00000101489:ENST00000603232:exon10:c.A1244T:p.E415V;ENSG00000101489:ENST00000587657:exon4:c.A311T:p.E104V;ENSG00000101489:ENST00000420428:exon10:c.A1247T:p.E416V;ENSG00000101489:ENST00000361795:exon10:c.A1241T:p.E414V;	0.976245232377124	0.668
18	34844639	T	C	18	37264676	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.A1217G:p.E406G;CELF4:NM_001025087:exon10:c.A1244G:p.E415G;CELF4:NM_001025088:exon10:c.A1241G:p.E414G;CELF4:NM_020180:exon10:c.A1247G:p.E416G;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1217G:p.E406G;ENSG00000101489:ENST00000588597:exon10:c.A1211G:p.E404G;ENSG00000101489:ENST00000601019:exon10:c.A1241G:p.E414G;ENSG00000101489:ENST00000591282:exon10:c.A1247G:p.E416G;ENSG00000101489:ENST00000588591:exon4:c.A326G:p.E109G;ENSG00000101489:ENST00000412753:exon10:c.A1244G:p.E415G;ENSG00000101489:ENST00000591287:exon10:c.A1241G:p.E414G;ENSG00000101489:ENST00000589386:exon4:c.A314G:p.E105G;ENSG00000101489:ENST00000593271:exon4:c.A311G:p.E104G;ENSG00000101489:ENST00000603232:exon10:c.A1244G:p.E415G;ENSG00000101489:ENST00000587657:exon4:c.A311G:p.E104G;ENSG00000101489:ENST00000420428:exon10:c.A1247G:p.E416G;ENSG00000101489:ENST00000361795:exon10:c.A1241G:p.E414G;	0.470691279968	0.474
18	34844639	T	G	18	37264676	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.A1217C:p.E406A;CELF4:NM_001025087:exon10:c.A1244C:p.E415A;CELF4:NM_001025088:exon10:c.A1241C:p.E414A;CELF4:NM_020180:exon10:c.A1247C:p.E416A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1217C:p.E406A;ENSG00000101489:ENST00000588597:exon10:c.A1211C:p.E404A;ENSG00000101489:ENST00000601019:exon10:c.A1241C:p.E414A;ENSG00000101489:ENST00000591282:exon10:c.A1247C:p.E416A;ENSG00000101489:ENST00000588591:exon4:c.A326C:p.E109A;ENSG00000101489:ENST00000412753:exon10:c.A1244C:p.E415A;ENSG00000101489:ENST00000591287:exon10:c.A1241C:p.E414A;ENSG00000101489:ENST00000589386:exon4:c.A314C:p.E105A;ENSG00000101489:ENST00000593271:exon4:c.A311C:p.E104A;ENSG00000101489:ENST00000603232:exon10:c.A1244C:p.E415A;ENSG00000101489:ENST00000587657:exon4:c.A311C:p.E104A;ENSG00000101489:ENST00000420428:exon10:c.A1247C:p.E416A;ENSG00000101489:ENST00000361795:exon10:c.A1241C:p.E414A;	0.884788688289001	0.674
18	34844719	T	A	18	37264756	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon10:c.A1137T:p.P379P;CELF4:NM_001025087:exon10:c.A1164T:p.P388P;CELF4:NM_001025088:exon10:c.A1161T:p.P387P;CELF4:NM_020180:exon10:c.A1167T:p.P389P;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000593271:exon5:c.233-2A>T;ENST00000588597:exon11:c.1133-2A>T)	synonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1137T:p.P379P;ENSG00000101489:ENST00000601019:exon10:c.A1161T:p.P387P;ENSG00000101489:ENST00000591282:exon10:c.A1167T:p.P389P;ENSG00000101489:ENST00000588591:exon4:c.A246T:p.P82P;ENSG00000101489:ENST00000412753:exon10:c.A1164T:p.P388P;ENSG00000101489:ENST00000591287:exon10:c.A1161T:p.A387A;ENSG00000101489:ENST00000589386:exon4:c.A234T:p.P78P;ENSG00000101489:ENST00000603232:exon10:c.A1164T:p.P388P;ENSG00000101489:ENST00000587657:exon4:c.A231T:p.A77A;ENSG00000101489:ENST00000420428:exon10:c.A1167T:p.P389P;ENSG00000101489:ENST00000361795:exon10:c.A1161T:p.P387P;	4.08737839251625E-4	0.05
18	34844719	T	C	18	37264756	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon10:c.A1137G:p.P379P;CELF4:NM_001025087:exon10:c.A1164G:p.P388P;CELF4:NM_001025088:exon10:c.A1161G:p.P387P;CELF4:NM_020180:exon10:c.A1167G:p.P389P;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000593271:exon5:c.233-2A>G;ENST00000588597:exon11:c.1133-2A>G)	synonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1137G:p.P379P;ENSG00000101489:ENST00000601019:exon10:c.A1161G:p.P387P;ENSG00000101489:ENST00000591282:exon10:c.A1167G:p.P389P;ENSG00000101489:ENST00000588591:exon4:c.A246G:p.P82P;ENSG00000101489:ENST00000412753:exon10:c.A1164G:p.P388P;ENSG00000101489:ENST00000591287:exon10:c.A1161G:p.A387A;ENSG00000101489:ENST00000589386:exon4:c.A234G:p.P78P;ENSG00000101489:ENST00000603232:exon10:c.A1164G:p.P388P;ENSG00000101489:ENST00000587657:exon4:c.A231G:p.A77A;ENSG00000101489:ENST00000420428:exon10:c.A1167G:p.P389P;ENSG00000101489:ENST00000361795:exon10:c.A1161G:p.P387P;	3.4035589178459E-4	0.014
18	34844719	T	G	18	37264756	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon10:c.A1137C:p.P379P;CELF4:NM_001025087:exon10:c.A1164C:p.P388P;CELF4:NM_001025088:exon10:c.A1161C:p.P387P;CELF4:NM_020180:exon10:c.A1167C:p.P389P;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000593271:exon5:c.233-2A>C;ENST00000588597:exon11:c.1133-2A>C)	synonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.A1137C:p.P379P;ENSG00000101489:ENST00000601019:exon10:c.A1161C:p.P387P;ENSG00000101489:ENST00000591282:exon10:c.A1167C:p.P389P;ENSG00000101489:ENST00000588591:exon4:c.A246C:p.P82P;ENSG00000101489:ENST00000412753:exon10:c.A1164C:p.P388P;ENSG00000101489:ENST00000591287:exon10:c.A1161C:p.A387A;ENSG00000101489:ENST00000589386:exon4:c.A234C:p.P78P;ENSG00000101489:ENST00000603232:exon10:c.A1164C:p.P388P;ENSG00000101489:ENST00000587657:exon4:c.A231C:p.A77A;ENSG00000101489:ENST00000420428:exon10:c.A1167C:p.P389P;ENSG00000101489:ENST00000361795:exon10:c.A1161C:p.P387P;	5.93832062076167E-4	0.01
18	34844720	G	A	18	37264757	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.C1136T:p.P379L;CELF4:NM_001025087:exon10:c.C1163T:p.P388L;CELF4:NM_001025088:exon10:c.C1160T:p.P387L;CELF4:NM_020180:exon10:c.C1166T:p.P389L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.C1136T:p.P379L;ENSG00000101489:ENST00000601019:exon10:c.C1160T:p.P387L;ENSG00000101489:ENST00000591282:exon10:c.C1166T:p.P389L;ENSG00000101489:ENST00000588591:exon4:c.C245T:p.P82L;ENSG00000101489:ENST00000412753:exon10:c.C1163T:p.P388L;ENSG00000101489:ENST00000591287:exon10:c.C1160T:p.A387V;ENSG00000101489:ENST00000589386:exon4:c.C233T:p.P78L;ENSG00000101489:ENST00000603232:exon10:c.C1163T:p.P388L;ENSG00000101489:ENST00000587657:exon4:c.C230T:p.A77V;ENSG00000101489:ENST00000420428:exon10:c.C1166T:p.P389L;ENSG00000101489:ENST00000361795:exon10:c.C1160T:p.P387L;	0.867008895537627	0.728
18	34844720	G	C	18	37264757	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.C1136G:p.P379R;CELF4:NM_001025087:exon10:c.C1163G:p.P388R;CELF4:NM_001025088:exon10:c.C1160G:p.P387R;CELF4:NM_020180:exon10:c.C1166G:p.P389R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.C1136G:p.P379R;ENSG00000101489:ENST00000601019:exon10:c.C1160G:p.P387R;ENSG00000101489:ENST00000591282:exon10:c.C1166G:p.P389R;ENSG00000101489:ENST00000588591:exon4:c.C245G:p.P82R;ENSG00000101489:ENST00000412753:exon10:c.C1163G:p.P388R;ENSG00000101489:ENST00000591287:exon10:c.C1160G:p.A387G;ENSG00000101489:ENST00000589386:exon4:c.C233G:p.P78R;ENSG00000101489:ENST00000603232:exon10:c.C1163G:p.P388R;ENSG00000101489:ENST00000587657:exon4:c.C230G:p.A77G;ENSG00000101489:ENST00000420428:exon10:c.C1166G:p.P389R;ENSG00000101489:ENST00000361795:exon10:c.C1160G:p.P387R;	0.538253258501667	0.458
18	34844720	G	T	18	37264757	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon10:c.C1136A:p.P379Q;CELF4:NM_001025087:exon10:c.C1163A:p.P388Q;CELF4:NM_001025088:exon10:c.C1160A:p.P387Q;CELF4:NM_020180:exon10:c.C1166A:p.P389Q;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon10:c.C1136A:p.P379Q;ENSG00000101489:ENST00000601019:exon10:c.C1160A:p.P387Q;ENSG00000101489:ENST00000591282:exon10:c.C1166A:p.P389Q;ENSG00000101489:ENST00000588591:exon4:c.C245A:p.P82Q;ENSG00000101489:ENST00000412753:exon10:c.C1163A:p.P388Q;ENSG00000101489:ENST00000591287:exon10:c.C1160A:p.A387E;ENSG00000101489:ENST00000589386:exon4:c.C233A:p.P78Q;ENSG00000101489:ENST00000603232:exon10:c.C1163A:p.P388Q;ENSG00000101489:ENST00000587657:exon4:c.C230A:p.A77E;ENSG00000101489:ENST00000420428:exon10:c.C1166A:p.P389Q;ENSG00000101489:ENST00000361795:exon10:c.C1160A:p.P387Q;	0.961697847663592	0.682
18	34844721	C	A	18	37264758	y	y	splicing	CELF4(NM_001025089:exon11:c.1136-1G>T;NM_020180:exon11:c.1166-1G>T;NM_001025088:exon11:c.1160-1G>T;NM_001025087:exon11:c.1163-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1163-1G>T;ENST00000420428:exon11:c.1166-1G>T;ENST00000591287:exon11:c.1160-1G>T;ENST00000334919:exon11:c.1136-1G>T;ENST00000588591:exon5:c.245-1G>T;ENST00000590112:exon8:c.2261-1G>T;ENST00000361795:exon11:c.1160-1G>T;ENST00000601019:exon11:c.1160-1G>T;ENST00000603232:exon11:c.1163-1G>T;ENST00000591282:exon11:c.1166-1G>T;ENST00000589386:exon5:c.233-1G>T;ENST00000587657:exon5:c.230-1G>T)	.	.	0.999980303772886	0.908
18	34844721	C	G	18	37264758	y	y	splicing	CELF4(NM_001025089:exon11:c.1136-1G>C;NM_020180:exon11:c.1166-1G>C;NM_001025088:exon11:c.1160-1G>C;NM_001025087:exon11:c.1163-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1163-1G>C;ENST00000420428:exon11:c.1166-1G>C;ENST00000591287:exon11:c.1160-1G>C;ENST00000334919:exon11:c.1136-1G>C;ENST00000588591:exon5:c.245-1G>C;ENST00000590112:exon8:c.2261-1G>C;ENST00000361795:exon11:c.1160-1G>C;ENST00000601019:exon11:c.1160-1G>C;ENST00000603232:exon11:c.1163-1G>C;ENST00000591282:exon11:c.1166-1G>C;ENST00000589386:exon5:c.233-1G>C;ENST00000587657:exon5:c.230-1G>C)	.	.	0.999980303772886	0.908
18	34844721	C	T	18	37264758	y	y	splicing	CELF4(NM_001025089:exon11:c.1136-1G>A;NM_020180:exon11:c.1166-1G>A;NM_001025088:exon11:c.1160-1G>A;NM_001025087:exon11:c.1163-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1163-1G>A;ENST00000420428:exon11:c.1166-1G>A;ENST00000591287:exon11:c.1160-1G>A;ENST00000334919:exon11:c.1136-1G>A;ENST00000588591:exon5:c.245-1G>A;ENST00000590112:exon8:c.2261-1G>A;ENST00000361795:exon11:c.1160-1G>A;ENST00000601019:exon11:c.1160-1G>A;ENST00000603232:exon11:c.1163-1G>A;ENST00000591282:exon11:c.1166-1G>A;ENST00000589386:exon5:c.233-1G>A;ENST00000587657:exon5:c.230-1G>A)	.	.	0.999980303772886	0.908
18	34844722	T	A	18	37264759	y	y	splicing	CELF4(NM_001025089:exon11:c.1136-2A>T;NM_020180:exon11:c.1166-2A>T;NM_001025088:exon11:c.1160-2A>T;NM_001025087:exon11:c.1163-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1163-2A>T;ENST00000420428:exon11:c.1166-2A>T;ENST00000591287:exon11:c.1160-2A>T;ENST00000334919:exon11:c.1136-2A>T;ENST00000588591:exon5:c.245-2A>T;ENST00000590112:exon8:c.2261-2A>T;ENST00000361795:exon11:c.1160-2A>T;ENST00000601019:exon11:c.1160-2A>T;ENST00000603232:exon11:c.1163-2A>T;ENST00000591282:exon11:c.1166-2A>T;ENST00000589386:exon5:c.233-2A>T;ENST00000587657:exon5:c.230-2A>T)	.	.	0.999979394981131	0.906
18	34844722	T	C	18	37264759	y	y	splicing	CELF4(NM_001025089:exon11:c.1136-2A>G;NM_020180:exon11:c.1166-2A>G;NM_001025088:exon11:c.1160-2A>G;NM_001025087:exon11:c.1163-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1163-2A>G;ENST00000420428:exon11:c.1166-2A>G;ENST00000591287:exon11:c.1160-2A>G;ENST00000334919:exon11:c.1136-2A>G;ENST00000588591:exon5:c.245-2A>G;ENST00000590112:exon8:c.2261-2A>G;ENST00000361795:exon11:c.1160-2A>G;ENST00000601019:exon11:c.1160-2A>G;ENST00000603232:exon11:c.1163-2A>G;ENST00000591282:exon11:c.1166-2A>G;ENST00000589386:exon5:c.233-2A>G;ENST00000587657:exon5:c.230-2A>G)	.	.	0.999979394981131	0.906
18	34844722	T	G	18	37264759	y	y	splicing	CELF4(NM_001025089:exon11:c.1136-2A>C;NM_020180:exon11:c.1166-2A>C;NM_001025088:exon11:c.1160-2A>C;NM_001025087:exon11:c.1163-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon11:c.1163-2A>C;ENST00000420428:exon11:c.1166-2A>C;ENST00000591287:exon11:c.1160-2A>C;ENST00000334919:exon11:c.1136-2A>C;ENST00000588591:exon5:c.245-2A>C;ENST00000590112:exon8:c.2261-2A>C;ENST00000361795:exon11:c.1160-2A>C;ENST00000601019:exon11:c.1160-2A>C;ENST00000603232:exon11:c.1163-2A>C;ENST00000591282:exon11:c.1166-2A>C;ENST00000589386:exon5:c.233-2A>C;ENST00000587657:exon5:c.230-2A>C)	.	.	0.999979394981131	0.906
18	34844723	G	A	18	37264760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.132132025689965	0.158
18	34844723	G	C	18	37264760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999746656801747	0.914
18	34844723	G	T	18	37264760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999813451044992	0.928
18	34844724	G	A	18	37264761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00304983126269105	0.182
18	34844724	G	C	18	37264761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00138678410720549	0.084
18	34844724	G	T	18	37264761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	9.36465570050571E-4	0.144
18	34844725	A	C	18	37264762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.830146019794227	0.75
18	34844725	A	G	18	37264762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.72939594688358E-4	0.092
18	34844725	A	T	18	37264762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.913718246865024	0.826
18	34844726	G	A	18	37264763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.2075865854112E-4	0.098
18	34844726	G	C	18	37264763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.384715039494327	0.374
18	34844726	G	T	18	37264763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.441640962628009	0.366
18	34844727	G	A	18	37264764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.48082523322705E-4	0.056
18	34844727	G	C	18	37264764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.211688863137931	0.2
18	34844727	G	T	18	37264764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.457188953584115	0.202
18	34844728	C	A	18	37264765	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.03304065575985E-5	0.006
18	34844728	C	G	18	37264765	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	9.62297334920467E-6	0.004
18	34844728	C	T	18	37264765	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.79077414225613E-4	0.03
18	34844729	C	A	18	37264766	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00513269925029598	0.116
18	34844729	C	G	18	37264766	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00275174963873545	0.1
18	34844729	C	T	18	37264766	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999706523280746	0.946
18	34844730	C	A	18	37264767	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00196461949031511	0.066
18	34844730	C	G	18	37264767	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00196461949031511	0.062
18	34844730	C	T	18	37264767	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999441738701673	0.872
18	34844731	A	C	18	37264768	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.31533044107564	0.35
18	34844731	A	G	18	37264768	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.9127382812051E-5	0.022
18	34844731	A	T	18	37264768	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999254510371996	0.918
18	34844732	A	C	18	37264769	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0363051577741226	0.318
18	34844732	A	G	18	37264769	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.2746819466239E-4	0.014
18	34844732	A	T	18	37264769	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0287989988922054	0.334
18	34846488	A	C	18	37266525	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0370779606521862	.
18	34846488	A	G	18	37266525	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0344467852881336	.
18	34846488	A	T	18	37266525	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0464536620407992	.
18	34846489	T	A	18	37266526	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.842662942280374	.
18	34846489	T	C	18	37266526	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.76406887865928	.
18	34846489	T	G	18	37266526	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.804629693367115	.
18	34846490	A	C	18	37266527	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.987640210834888	.
18	34846490	A	G	18	37266527	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.993214801981968	.
18	34846490	A	T	18	37266527	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.995487641351857	.
18	34846491	C	A	18	37266528	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999956815199374	.
18	34846491	C	G	18	37266528	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.99993834308115	.
18	34846491	C	T	18	37266528	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999956815199374	.
18	34846492	T	A	18	37266529	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999947379893534	.
18	34846492	T	C	18	37266529	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999901312251966	.
18	34846492	T	G	18	37266529	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999926371422991	.
18	34846493	A	C	18	37266530	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0105721666408591	.
18	34846493	A	G	18	37266530	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0915783794478005	.
18	34846493	A	T	18	37266530	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0187573534844813	.
18	34846494	A	C	18	37266531	y	y	splicing	CELF4(NM_001025089:exon10:c.1135+2T>G;NM_020180:exon10:c.1165+2T>G;NM_001025088:exon10:c.1159+2T>G;NM_001025087:exon10:c.1162+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1162+2T>G;ENST00000420428:exon10:c.1165+2T>G;ENST00000334919:exon10:c.1135+2T>G;ENST00000588591:exon4:c.244+2T>G;ENST00000586009:exon3:c.219+2T>G;ENST00000590112:exon7:c.2260+2T>G;ENST00000361795:exon10:c.1159+2T>G;ENST00000601019:exon10:c.1159+2T>G;ENST00000603232:exon10:c.1162+2T>G;ENST00000591282:exon10:c.1165+2T>G;ENST00000593271:exon4:c.232+2T>G;ENST00000589386:exon4:c.232+2T>G;ENST00000588597:exon10:c.1132+2T>G)	.	.	0.999908539125455	.
18	34846494	A	G	18	37266531	y	y	splicing	CELF4(NM_001025089:exon10:c.1135+2T>C;NM_020180:exon10:c.1165+2T>C;NM_001025088:exon10:c.1159+2T>C;NM_001025087:exon10:c.1162+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1162+2T>C;ENST00000420428:exon10:c.1165+2T>C;ENST00000334919:exon10:c.1135+2T>C;ENST00000588591:exon4:c.244+2T>C;ENST00000586009:exon3:c.219+2T>C;ENST00000590112:exon7:c.2260+2T>C;ENST00000361795:exon10:c.1159+2T>C;ENST00000601019:exon10:c.1159+2T>C;ENST00000603232:exon10:c.1162+2T>C;ENST00000591282:exon10:c.1165+2T>C;ENST00000593271:exon4:c.232+2T>C;ENST00000589386:exon4:c.232+2T>C;ENST00000588597:exon10:c.1132+2T>C)	.	.	0.998841568118818	.
18	34846494	A	T	18	37266531	y	y	splicing	CELF4(NM_001025089:exon10:c.1135+2T>A;NM_020180:exon10:c.1165+2T>A;NM_001025088:exon10:c.1159+2T>A;NM_001025087:exon10:c.1162+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1162+2T>A;ENST00000420428:exon10:c.1165+2T>A;ENST00000334919:exon10:c.1135+2T>A;ENST00000588591:exon4:c.244+2T>A;ENST00000586009:exon3:c.219+2T>A;ENST00000590112:exon7:c.2260+2T>A;ENST00000361795:exon10:c.1159+2T>A;ENST00000601019:exon10:c.1159+2T>A;ENST00000603232:exon10:c.1162+2T>A;ENST00000591282:exon10:c.1165+2T>A;ENST00000593271:exon4:c.232+2T>A;ENST00000589386:exon4:c.232+2T>A;ENST00000588597:exon10:c.1132+2T>A)	.	.	0.999908539125455	.
18	34846495	C	A	18	37266532	y	y	splicing	CELF4(NM_001025089:exon10:c.1135+1G>T;NM_020180:exon10:c.1165+1G>T;NM_001025088:exon10:c.1159+1G>T;NM_001025087:exon10:c.1162+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1162+1G>T;ENST00000420428:exon10:c.1165+1G>T;ENST00000334919:exon10:c.1135+1G>T;ENST00000588591:exon4:c.244+1G>T;ENST00000586009:exon3:c.219+1G>T;ENST00000590112:exon7:c.2260+1G>T;ENST00000361795:exon10:c.1159+1G>T;ENST00000601019:exon10:c.1159+1G>T;ENST00000603232:exon10:c.1162+1G>T;ENST00000591282:exon10:c.1165+1G>T;ENST00000593271:exon4:c.232+1G>T;ENST00000589386:exon4:c.232+1G>T;ENST00000588597:exon10:c.1132+1G>T)	.	.	0.999964469209436	.
18	34846495	C	G	18	37266532	y	y	splicing	CELF4(NM_001025089:exon10:c.1135+1G>C;NM_020180:exon10:c.1165+1G>C;NM_001025088:exon10:c.1159+1G>C;NM_001025087:exon10:c.1162+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1162+1G>C;ENST00000420428:exon10:c.1165+1G>C;ENST00000334919:exon10:c.1135+1G>C;ENST00000588591:exon4:c.244+1G>C;ENST00000586009:exon3:c.219+1G>C;ENST00000590112:exon7:c.2260+1G>C;ENST00000361795:exon10:c.1159+1G>C;ENST00000601019:exon10:c.1159+1G>C;ENST00000603232:exon10:c.1162+1G>C;ENST00000591282:exon10:c.1165+1G>C;ENST00000593271:exon4:c.232+1G>C;ENST00000589386:exon4:c.232+1G>C;ENST00000588597:exon10:c.1132+1G>C)	.	.	0.999972500575682	.
18	34846495	C	T	18	37266532	y	y	splicing	CELF4(NM_001025089:exon10:c.1135+1G>A;NM_020180:exon10:c.1165+1G>A;NM_001025088:exon10:c.1159+1G>A;NM_001025087:exon10:c.1162+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1162+1G>A;ENST00000420428:exon10:c.1165+1G>A;ENST00000334919:exon10:c.1135+1G>A;ENST00000588591:exon4:c.244+1G>A;ENST00000586009:exon3:c.219+1G>A;ENST00000590112:exon7:c.2260+1G>A;ENST00000361795:exon10:c.1159+1G>A;ENST00000601019:exon10:c.1159+1G>A;ENST00000603232:exon10:c.1162+1G>A;ENST00000591282:exon10:c.1165+1G>A;ENST00000593271:exon4:c.232+1G>A;ENST00000589386:exon4:c.232+1G>A;ENST00000588597:exon10:c.1132+1G>A)	.	.	0.999964469209436	.
18	34846496	G	A	18	37266533	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.C1135T:p.P379S;CELF4:NM_001025087:exon9:c.C1162T:p.P388S;CELF4:NM_001025088:exon9:c.C1159T:p.P387S;CELF4:NM_020180:exon9:c.C1165T:p.P389S;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.C1135T:p.P379S;ENSG00000101489:ENST00000588597:exon9:c.C1132T:p.P378S;ENSG00000101489:ENST00000601019:exon9:c.C1159T:p.P387S;ENSG00000101489:ENST00000591282:exon9:c.C1165T:p.P389S;ENSG00000101489:ENST00000588591:exon3:c.C244T:p.P82S;ENSG00000101489:ENST00000412753:exon9:c.C1162T:p.P388S;ENSG00000101489:ENST00000589386:exon3:c.C232T:p.P78S;ENSG00000101489:ENST00000593271:exon3:c.C232T:p.P78S;ENSG00000101489:ENST00000603232:exon9:c.C1162T:p.P388S;ENSG00000101489:ENST00000420428:exon9:c.C1165T:p.P389S;ENSG00000101489:ENST00000361795:exon9:c.C1159T:p.P387S;	0.975531067086962	.
18	34846496	G	C	18	37266533	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.C1135G:p.P379A;CELF4:NM_001025087:exon9:c.C1162G:p.P388A;CELF4:NM_001025088:exon9:c.C1159G:p.P387A;CELF4:NM_020180:exon9:c.C1165G:p.P389A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.C1135G:p.P379A;ENSG00000101489:ENST00000588597:exon9:c.C1132G:p.P378A;ENSG00000101489:ENST00000601019:exon9:c.C1159G:p.P387A;ENSG00000101489:ENST00000591282:exon9:c.C1165G:p.P389A;ENSG00000101489:ENST00000588591:exon3:c.C244G:p.P82A;ENSG00000101489:ENST00000412753:exon9:c.C1162G:p.P388A;ENSG00000101489:ENST00000589386:exon3:c.C232G:p.P78A;ENSG00000101489:ENST00000593271:exon3:c.C232G:p.P78A;ENSG00000101489:ENST00000603232:exon9:c.C1162G:p.P388A;ENSG00000101489:ENST00000420428:exon9:c.C1165G:p.P389A;ENSG00000101489:ENST00000361795:exon9:c.C1159G:p.P387A;	8.42762861456648E-4	.
18	34846496	G	T	18	37266533	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.C1135A:p.P379T;CELF4:NM_001025087:exon9:c.C1162A:p.P388T;CELF4:NM_001025088:exon9:c.C1159A:p.P387T;CELF4:NM_020180:exon9:c.C1165A:p.P389T;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.C1135A:p.P379T;ENSG00000101489:ENST00000588597:exon9:c.C1132A:p.P378T;ENSG00000101489:ENST00000601019:exon9:c.C1159A:p.P387T;ENSG00000101489:ENST00000591282:exon9:c.C1165A:p.P389T;ENSG00000101489:ENST00000588591:exon3:c.C244A:p.P82T;ENSG00000101489:ENST00000412753:exon9:c.C1162A:p.P388T;ENSG00000101489:ENST00000589386:exon3:c.C232A:p.P78T;ENSG00000101489:ENST00000593271:exon3:c.C232A:p.P78T;ENSG00000101489:ENST00000603232:exon9:c.C1162A:p.P388T;ENSG00000101489:ENST00000420428:exon9:c.C1165A:p.P389T;ENSG00000101489:ENST00000361795:exon9:c.C1159A:p.P387T;	0.137061392617447	.
18	34846497	A	C	18	37266534	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon9:c.T1134G:p.G378G;CELF4:NM_001025087:exon9:c.T1161G:p.G387G;CELF4:NM_001025088:exon9:c.T1158G:p.G386G;CELF4:NM_020180:exon9:c.T1164G:p.G388G;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon10:c.1159+2T>G;ENST00000587657:exon4:c.229+2T>G)	synonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.T1134G:p.G378G;ENSG00000101489:ENST00000588597:exon9:c.T1131G:p.G377G;ENSG00000101489:ENST00000601019:exon9:c.T1158G:p.G386G;ENSG00000101489:ENST00000591282:exon9:c.T1164G:p.G388G;ENSG00000101489:ENST00000588591:exon3:c.T243G:p.G81G;ENSG00000101489:ENST00000412753:exon9:c.T1161G:p.G387G;ENSG00000101489:ENST00000589386:exon3:c.T231G:p.G77G;ENSG00000101489:ENST00000593271:exon3:c.T231G:p.G77G;ENSG00000101489:ENST00000603232:exon9:c.T1161G:p.G387G;ENSG00000101489:ENST00000420428:exon9:c.T1164G:p.G388G;ENSG00000101489:ENST00000361795:exon9:c.T1158G:p.G386G;	0.111123936618318	.
18	34846497	A	G	18	37266534	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon9:c.T1134C:p.G378G;CELF4:NM_001025087:exon9:c.T1161C:p.G387G;CELF4:NM_001025088:exon9:c.T1158C:p.G386G;CELF4:NM_020180:exon9:c.T1164C:p.G388G;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon10:c.1159+2T>C;ENST00000587657:exon4:c.229+2T>C)	synonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.T1134C:p.G378G;ENSG00000101489:ENST00000588597:exon9:c.T1131C:p.G377G;ENSG00000101489:ENST00000601019:exon9:c.T1158C:p.G386G;ENSG00000101489:ENST00000591282:exon9:c.T1164C:p.G388G;ENSG00000101489:ENST00000588591:exon3:c.T243C:p.G81G;ENSG00000101489:ENST00000412753:exon9:c.T1161C:p.G387G;ENSG00000101489:ENST00000589386:exon3:c.T231C:p.G77G;ENSG00000101489:ENST00000593271:exon3:c.T231C:p.G77G;ENSG00000101489:ENST00000603232:exon9:c.T1161C:p.G387G;ENSG00000101489:ENST00000420428:exon9:c.T1164C:p.G388G;ENSG00000101489:ENST00000361795:exon9:c.T1158C:p.G386G;	0.0960333493814278	.
18	34846497	A	T	18	37266534	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon9:c.T1134A:p.G378G;CELF4:NM_001025087:exon9:c.T1161A:p.G387G;CELF4:NM_001025088:exon9:c.T1158A:p.G386G;CELF4:NM_020180:exon9:c.T1164A:p.G388G;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon10:c.1159+2T>A;ENST00000587657:exon4:c.229+2T>A)	synonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.T1134A:p.G378G;ENSG00000101489:ENST00000588597:exon9:c.T1131A:p.G377G;ENSG00000101489:ENST00000601019:exon9:c.T1158A:p.G386G;ENSG00000101489:ENST00000591282:exon9:c.T1164A:p.G388G;ENSG00000101489:ENST00000588591:exon3:c.T243A:p.G81G;ENSG00000101489:ENST00000412753:exon9:c.T1161A:p.G387G;ENSG00000101489:ENST00000589386:exon3:c.T231A:p.G77G;ENSG00000101489:ENST00000593271:exon3:c.T231A:p.G77G;ENSG00000101489:ENST00000603232:exon9:c.T1161A:p.G387G;ENSG00000101489:ENST00000420428:exon9:c.T1164A:p.G388G;ENSG00000101489:ENST00000361795:exon9:c.T1158A:p.G386G;	0.00918246154034339	.
18	34846498	C	A	18	37266535	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.G1133T:p.G378V;CELF4:NM_001025087:exon9:c.G1160T:p.G387V;CELF4:NM_001025088:exon9:c.G1157T:p.G386V;CELF4:NM_020180:exon9:c.G1163T:p.G388V;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon10:c.1159+1G>T;ENST00000587657:exon4:c.229+1G>T)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.G1133T:p.G378V;ENSG00000101489:ENST00000588597:exon9:c.G1130T:p.G377V;ENSG00000101489:ENST00000601019:exon9:c.G1157T:p.G386V;ENSG00000101489:ENST00000591282:exon9:c.G1163T:p.G388V;ENSG00000101489:ENST00000588591:exon3:c.G242T:p.G81V;ENSG00000101489:ENST00000412753:exon9:c.G1160T:p.G387V;ENSG00000101489:ENST00000589386:exon3:c.G230T:p.G77V;ENSG00000101489:ENST00000593271:exon3:c.G230T:p.G77V;ENSG00000101489:ENST00000603232:exon9:c.G1160T:p.G387V;ENSG00000101489:ENST00000420428:exon9:c.G1163T:p.G388V;ENSG00000101489:ENST00000361795:exon9:c.G1157T:p.G386V;	0.981636745516613	.
18	34846498	C	G	18	37266535	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.G1133C:p.G378A;CELF4:NM_001025087:exon9:c.G1160C:p.G387A;CELF4:NM_001025088:exon9:c.G1157C:p.G386A;CELF4:NM_020180:exon9:c.G1163C:p.G388A;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon10:c.1159+1G>C;ENST00000587657:exon4:c.229+1G>C)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.G1133C:p.G378A;ENSG00000101489:ENST00000588597:exon9:c.G1130C:p.G377A;ENSG00000101489:ENST00000601019:exon9:c.G1157C:p.G386A;ENSG00000101489:ENST00000591282:exon9:c.G1163C:p.G388A;ENSG00000101489:ENST00000588591:exon3:c.G242C:p.G81A;ENSG00000101489:ENST00000412753:exon9:c.G1160C:p.G387A;ENSG00000101489:ENST00000589386:exon3:c.G230C:p.G77A;ENSG00000101489:ENST00000593271:exon3:c.G230C:p.G77A;ENSG00000101489:ENST00000603232:exon9:c.G1160C:p.G387A;ENSG00000101489:ENST00000420428:exon9:c.G1163C:p.G388A;ENSG00000101489:ENST00000361795:exon9:c.G1157C:p.G386A;	9.01435373650904E-4	.
18	34846498	C	T	18	37266535	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.G1133A:p.G378D;CELF4:NM_001025087:exon9:c.G1160A:p.G387D;CELF4:NM_001025088:exon9:c.G1157A:p.G386D;CELF4:NM_020180:exon9:c.G1163A:p.G388D;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon10:c.1159+1G>A;ENST00000587657:exon4:c.229+1G>A)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.G1133A:p.G378D;ENSG00000101489:ENST00000588597:exon9:c.G1130A:p.G377D;ENSG00000101489:ENST00000601019:exon9:c.G1157A:p.G386D;ENSG00000101489:ENST00000591282:exon9:c.G1163A:p.G388D;ENSG00000101489:ENST00000588591:exon3:c.G242A:p.G81D;ENSG00000101489:ENST00000412753:exon9:c.G1160A:p.G387D;ENSG00000101489:ENST00000589386:exon3:c.G230A:p.G77D;ENSG00000101489:ENST00000593271:exon3:c.G230A:p.G77D;ENSG00000101489:ENST00000603232:exon9:c.G1160A:p.G387D;ENSG00000101489:ENST00000420428:exon9:c.G1163A:p.G388D;ENSG00000101489:ENST00000361795:exon9:c.G1157A:p.G386D;	0.92982062081503	.
18	34846560	T	A	18	37266597	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon9:c.A1071T:p.A357A;CELF4:NM_001025087:exon9:c.A1098T:p.A366A;CELF4:NM_001025088:exon9:c.A1095T:p.A365A;CELF4:NM_020180:exon9:c.A1101T:p.A367A;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.A1071T:p.A357A;ENSG00000101489:ENST00000588597:exon9:c.A1068T:p.A356A;ENSG00000101489:ENST00000601019:exon9:c.A1095T:p.A365A;ENSG00000101489:ENST00000591282:exon9:c.A1101T:p.A367A;ENSG00000101489:ENST00000588591:exon3:c.A180T:p.A60A;ENSG00000101489:ENST00000412753:exon9:c.A1098T:p.A366A;ENSG00000101489:ENST00000591287:exon9:c.A1098T:p.A366A;ENSG00000101489:ENST00000589386:exon3:c.A168T:p.A56A;ENSG00000101489:ENST00000593271:exon3:c.A168T:p.A56A;ENSG00000101489:ENST00000603232:exon9:c.A1098T:p.A366A;ENSG00000101489:ENST00000587657:exon3:c.A168T:p.A56A;ENSG00000101489:ENST00000420428:exon9:c.A1101T:p.A367A;ENSG00000101489:ENST00000361795:exon9:c.A1095T:p.A365A;	1.78744271403449E-5	0.106
18	34846560	T	C	18	37266597	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon9:c.A1071G:p.A357A;CELF4:NM_001025087:exon9:c.A1098G:p.A366A;CELF4:NM_001025088:exon9:c.A1095G:p.A365A;CELF4:NM_020180:exon9:c.A1101G:p.A367A;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.A1071G:p.A357A;ENSG00000101489:ENST00000588597:exon9:c.A1068G:p.A356A;ENSG00000101489:ENST00000601019:exon9:c.A1095G:p.A365A;ENSG00000101489:ENST00000591282:exon9:c.A1101G:p.A367A;ENSG00000101489:ENST00000588591:exon3:c.A180G:p.A60A;ENSG00000101489:ENST00000412753:exon9:c.A1098G:p.A366A;ENSG00000101489:ENST00000591287:exon9:c.A1098G:p.A366A;ENSG00000101489:ENST00000589386:exon3:c.A168G:p.A56A;ENSG00000101489:ENST00000593271:exon3:c.A168G:p.A56A;ENSG00000101489:ENST00000603232:exon9:c.A1098G:p.A366A;ENSG00000101489:ENST00000587657:exon3:c.A168G:p.A56A;ENSG00000101489:ENST00000420428:exon9:c.A1101G:p.A367A;ENSG00000101489:ENST00000361795:exon9:c.A1095G:p.A365A;	1.43312019356335E-4	0.15
18	34846560	T	G	18	37266597	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon9:c.A1071C:p.A357A;CELF4:NM_001025087:exon9:c.A1098C:p.A366A;CELF4:NM_001025088:exon9:c.A1095C:p.A365A;CELF4:NM_020180:exon9:c.A1101C:p.A367A;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.A1071C:p.A357A;ENSG00000101489:ENST00000588597:exon9:c.A1068C:p.A356A;ENSG00000101489:ENST00000601019:exon9:c.A1095C:p.A365A;ENSG00000101489:ENST00000591282:exon9:c.A1101C:p.A367A;ENSG00000101489:ENST00000588591:exon3:c.A180C:p.A60A;ENSG00000101489:ENST00000412753:exon9:c.A1098C:p.A366A;ENSG00000101489:ENST00000591287:exon9:c.A1098C:p.A366A;ENSG00000101489:ENST00000589386:exon3:c.A168C:p.A56A;ENSG00000101489:ENST00000593271:exon3:c.A168C:p.A56A;ENSG00000101489:ENST00000603232:exon9:c.A1098C:p.A366A;ENSG00000101489:ENST00000587657:exon3:c.A168C:p.A56A;ENSG00000101489:ENST00000420428:exon9:c.A1101C:p.A367A;ENSG00000101489:ENST00000361795:exon9:c.A1095C:p.A365A;	2.47700558618786E-4	0.104
18	34846561	G	A	18	37266598	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.C1070T:p.A357V;CELF4:NM_001025087:exon9:c.C1097T:p.A366V;CELF4:NM_001025088:exon9:c.C1094T:p.A365V;CELF4:NM_020180:exon9:c.C1100T:p.A367V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.C1070T:p.A357V;ENSG00000101489:ENST00000588597:exon9:c.C1067T:p.A356V;ENSG00000101489:ENST00000601019:exon9:c.C1094T:p.A365V;ENSG00000101489:ENST00000591282:exon9:c.C1100T:p.A367V;ENSG00000101489:ENST00000588591:exon3:c.C179T:p.A60V;ENSG00000101489:ENST00000412753:exon9:c.C1097T:p.A366V;ENSG00000101489:ENST00000591287:exon9:c.C1097T:p.A366V;ENSG00000101489:ENST00000589386:exon3:c.C167T:p.A56V;ENSG00000101489:ENST00000593271:exon3:c.C167T:p.A56V;ENSG00000101489:ENST00000603232:exon9:c.C1097T:p.A366V;ENSG00000101489:ENST00000587657:exon3:c.C167T:p.A56V;ENSG00000101489:ENST00000420428:exon9:c.C1100T:p.A367V;ENSG00000101489:ENST00000361795:exon9:c.C1094T:p.A365V;	0.994865415683182	0.888
18	34846561	G	C	18	37266598	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.C1070G:p.A357G;CELF4:NM_001025087:exon9:c.C1097G:p.A366G;CELF4:NM_001025088:exon9:c.C1094G:p.A365G;CELF4:NM_020180:exon9:c.C1100G:p.A367G;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.C1070G:p.A357G;ENSG00000101489:ENST00000588597:exon9:c.C1067G:p.A356G;ENSG00000101489:ENST00000601019:exon9:c.C1094G:p.A365G;ENSG00000101489:ENST00000591282:exon9:c.C1100G:p.A367G;ENSG00000101489:ENST00000588591:exon3:c.C179G:p.A60G;ENSG00000101489:ENST00000412753:exon9:c.C1097G:p.A366G;ENSG00000101489:ENST00000591287:exon9:c.C1097G:p.A366G;ENSG00000101489:ENST00000589386:exon3:c.C167G:p.A56G;ENSG00000101489:ENST00000593271:exon3:c.C167G:p.A56G;ENSG00000101489:ENST00000603232:exon9:c.C1097G:p.A366G;ENSG00000101489:ENST00000587657:exon3:c.C167G:p.A56G;ENSG00000101489:ENST00000420428:exon9:c.C1100G:p.A367G;ENSG00000101489:ENST00000361795:exon9:c.C1094G:p.A365G;	0.959659201579447	0.632
18	34846561	G	T	18	37266598	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon9:c.C1070A:p.A357E;CELF4:NM_001025087:exon9:c.C1097A:p.A366E;CELF4:NM_001025088:exon9:c.C1094A:p.A365E;CELF4:NM_020180:exon9:c.C1100A:p.A367E;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon9:c.C1070A:p.A357E;ENSG00000101489:ENST00000588597:exon9:c.C1067A:p.A356E;ENSG00000101489:ENST00000601019:exon9:c.C1094A:p.A365E;ENSG00000101489:ENST00000591282:exon9:c.C1100A:p.A367E;ENSG00000101489:ENST00000588591:exon3:c.C179A:p.A60E;ENSG00000101489:ENST00000412753:exon9:c.C1097A:p.A366E;ENSG00000101489:ENST00000591287:exon9:c.C1097A:p.A366E;ENSG00000101489:ENST00000589386:exon3:c.C167A:p.A56E;ENSG00000101489:ENST00000593271:exon3:c.C167A:p.A56E;ENSG00000101489:ENST00000603232:exon9:c.C1097A:p.A366E;ENSG00000101489:ENST00000587657:exon3:c.C167A:p.A56E;ENSG00000101489:ENST00000420428:exon9:c.C1100A:p.A367E;ENSG00000101489:ENST00000361795:exon9:c.C1094A:p.A365E;	0.959606860195383	0.788
18	34846562	C	A	18	37266599	y	y	splicing	CELF4(NM_001025089:exon10:c.1070-1G>T;NM_020180:exon10:c.1100-1G>T;NM_001025088:exon10:c.1094-1G>T;NM_001025087:exon10:c.1097-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1097-1G>T;ENST00000420428:exon10:c.1100-1G>T;ENST00000591287:exon10:c.1097-1G>T;ENST00000334919:exon10:c.1070-1G>T;ENST00000588591:exon4:c.179-1G>T;ENST00000586009:exon3:c.154-1G>T;ENST00000590112:exon7:c.2195-1G>T;ENST00000361795:exon10:c.1094-1G>T;ENST00000601019:exon10:c.1094-1G>T;ENST00000603232:exon10:c.1097-1G>T;ENST00000591282:exon10:c.1100-1G>T;ENST00000593271:exon4:c.167-1G>T;ENST00000589386:exon4:c.167-1G>T;ENST00000588597:exon10:c.1067-1G>T;ENST00000587657:exon4:c.167-1G>T)	.	.	0.999981760802075	0.94
18	34846562	C	G	18	37266599	y	y	splicing	CELF4(NM_001025089:exon10:c.1070-1G>C;NM_020180:exon10:c.1100-1G>C;NM_001025088:exon10:c.1094-1G>C;NM_001025087:exon10:c.1097-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1097-1G>C;ENST00000420428:exon10:c.1100-1G>C;ENST00000591287:exon10:c.1097-1G>C;ENST00000334919:exon10:c.1070-1G>C;ENST00000588591:exon4:c.179-1G>C;ENST00000586009:exon3:c.154-1G>C;ENST00000590112:exon7:c.2195-1G>C;ENST00000361795:exon10:c.1094-1G>C;ENST00000601019:exon10:c.1094-1G>C;ENST00000603232:exon10:c.1097-1G>C;ENST00000591282:exon10:c.1100-1G>C;ENST00000593271:exon4:c.167-1G>C;ENST00000589386:exon4:c.167-1G>C;ENST00000588597:exon10:c.1067-1G>C;ENST00000587657:exon4:c.167-1G>C)	.	.	0.999981760802075	0.94
18	34846562	C	T	18	37266599	y	y	splicing	CELF4(NM_001025089:exon10:c.1070-1G>A;NM_020180:exon10:c.1100-1G>A;NM_001025088:exon10:c.1094-1G>A;NM_001025087:exon10:c.1097-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1097-1G>A;ENST00000420428:exon10:c.1100-1G>A;ENST00000591287:exon10:c.1097-1G>A;ENST00000334919:exon10:c.1070-1G>A;ENST00000588591:exon4:c.179-1G>A;ENST00000586009:exon3:c.154-1G>A;ENST00000590112:exon7:c.2195-1G>A;ENST00000361795:exon10:c.1094-1G>A;ENST00000601019:exon10:c.1094-1G>A;ENST00000603232:exon10:c.1097-1G>A;ENST00000591282:exon10:c.1100-1G>A;ENST00000593271:exon4:c.167-1G>A;ENST00000589386:exon4:c.167-1G>A;ENST00000588597:exon10:c.1067-1G>A;ENST00000587657:exon4:c.167-1G>A)	.	.	0.999981760802075	0.94
18	34846563	T	A	18	37266600	y	y	splicing	CELF4(NM_001025089:exon10:c.1070-2A>T;NM_020180:exon10:c.1100-2A>T;NM_001025088:exon10:c.1094-2A>T;NM_001025087:exon10:c.1097-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1097-2A>T;ENST00000420428:exon10:c.1100-2A>T;ENST00000591287:exon10:c.1097-2A>T;ENST00000334919:exon10:c.1070-2A>T;ENST00000588591:exon4:c.179-2A>T;ENST00000586009:exon3:c.154-2A>T;ENST00000590112:exon7:c.2195-2A>T;ENST00000361795:exon10:c.1094-2A>T;ENST00000601019:exon10:c.1094-2A>T;ENST00000603232:exon10:c.1097-2A>T;ENST00000591282:exon10:c.1100-2A>T;ENST00000593271:exon4:c.167-2A>T;ENST00000589386:exon4:c.167-2A>T;ENST00000588597:exon10:c.1067-2A>T;ENST00000587657:exon4:c.167-2A>T)	.	.	0.999989917668626	0.928
18	34846563	T	C	18	37266600	y	y	splicing	CELF4(NM_001025089:exon10:c.1070-2A>G;NM_020180:exon10:c.1100-2A>G;NM_001025088:exon10:c.1094-2A>G;NM_001025087:exon10:c.1097-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1097-2A>G;ENST00000420428:exon10:c.1100-2A>G;ENST00000591287:exon10:c.1097-2A>G;ENST00000334919:exon10:c.1070-2A>G;ENST00000588591:exon4:c.179-2A>G;ENST00000586009:exon3:c.154-2A>G;ENST00000590112:exon7:c.2195-2A>G;ENST00000361795:exon10:c.1094-2A>G;ENST00000601019:exon10:c.1094-2A>G;ENST00000603232:exon10:c.1097-2A>G;ENST00000591282:exon10:c.1100-2A>G;ENST00000593271:exon4:c.167-2A>G;ENST00000589386:exon4:c.167-2A>G;ENST00000588597:exon10:c.1067-2A>G;ENST00000587657:exon4:c.167-2A>G)	.	.	0.999989917668626	0.928
18	34846563	T	G	18	37266600	y	y	splicing	CELF4(NM_001025089:exon10:c.1070-2A>C;NM_020180:exon10:c.1100-2A>C;NM_001025088:exon10:c.1094-2A>C;NM_001025087:exon10:c.1097-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon10:c.1097-2A>C;ENST00000420428:exon10:c.1100-2A>C;ENST00000591287:exon10:c.1097-2A>C;ENST00000334919:exon10:c.1070-2A>C;ENST00000588591:exon4:c.179-2A>C;ENST00000586009:exon3:c.154-2A>C;ENST00000590112:exon7:c.2195-2A>C;ENST00000361795:exon10:c.1094-2A>C;ENST00000601019:exon10:c.1094-2A>C;ENST00000603232:exon10:c.1097-2A>C;ENST00000591282:exon10:c.1100-2A>C;ENST00000593271:exon4:c.167-2A>C;ENST00000589386:exon4:c.167-2A>C;ENST00000588597:exon10:c.1067-2A>C;ENST00000587657:exon4:c.167-2A>C)	.	.	0.999989917668626	0.928
18	34846564	G	A	18	37266601	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.962304480141314	0.298
18	34846564	G	C	18	37266601	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999926182225942	0.976
18	34846564	G	T	18	37266601	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999518033273722	0.98
18	34846565	T	A	18	37266602	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.83152712394197E-4	0.086
18	34846565	T	C	18	37266602	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.98235006134786E-4	0.276
18	34846565	T	G	18	37266602	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.27761044599807E-4	0.076
18	34846566	A	C	18	37266603	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.312298224813265	0.66
18	34846566	A	G	18	37266603	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.1157933513549E-4	0.048
18	34846566	A	T	18	37266603	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.78782837157883	0.68
18	34846567	G	A	18	37266604	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.99841517800177E-5	0.016
18	34846567	G	C	18	37266604	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0640211193655517	0.346
18	34846567	G	T	18	37266604	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00774459443800154	0.294
18	34846568	G	A	18	37266605	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.21237052877399E-4	0.022
18	34846568	G	C	18	37266605	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.198434348809516	0.258
18	34846568	G	T	18	37266605	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.152148066639098	0.258
18	34846569	G	A	18	37266606	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	8.029485828425E-4	0.012
18	34846569	G	C	18	37266606	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0197888053722848	0.168
18	34846569	G	T	18	37266606	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0376174686131186	0.16
18	34846570	A	C	18	37266607	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.715636932147391	0.58
18	34846570	A	G	18	37266607	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00180166036090348	0.122
18	34846570	A	T	18	37266607	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.917515722839274	0.616
18	34846571	G	A	18	37266608	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.16095315953261E-4	0.006
18	34846571	G	C	18	37266608	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00674974675328484	0.038
18	34846571	G	T	18	37266608	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0107491594977403	0.06
18	34846572	C	A	18	37266609	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.48326140636735E-4	0.022
18	34846572	C	G	18	37266609	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.91959848867888E-4	0.01
18	34846572	C	T	18	37266609	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.27316792029633E-4	0.054
18	34846573	C	A	18	37266610	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00923496812147266	0.084
18	34846573	C	G	18	37266610	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0124808192110964	0.146
18	34846573	C	T	18	37266610	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999828665065893	0.91
18	34850723	G	A	18	37270760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.38535740806849E-4	0.004
18	34850723	G	C	18	37270760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.63706705181116E-4	0.0
18	34850723	G	T	18	37270760	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.38535740806849E-4	0.006
18	34850724	T	A	18	37270761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.71406022660188E-5	0.0
18	34850724	T	C	18	37270761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.31714493073847E-5	0.0
18	34850724	T	G	18	37270761	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.31714493073847E-5	0.0
18	34850725	G	A	18	37270762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.77194726272416E-5	0.0
18	34850725	G	C	18	37270762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.03533468110117E-4	0.024
18	34850725	G	T	18	37270762	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	8.50872651659797E-5	0.012
18	34850726	C	A	18	37270763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.987722535837693	0.754
18	34850726	C	G	18	37270763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.9293866605802	0.798
18	34850726	C	T	18	37270763	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999100404472141	0.82
18	34850727	T	A	18	37270764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.842590723520821	0.6
18	34850727	T	C	18	37270764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.827988751595816	0.556
18	34850727	T	G	18	37270764	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.837088219341528	0.584
18	34850728	T	A	18	37270765	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.986590415996453	0.854
18	34850728	T	C	18	37270765	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.504927005393736	0.314
18	34850728	T	G	18	37270765	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.997716300859546	0.928
18	34850729	A	C	18	37270766	y	y	splicing	CELF4(NM_001025089:exon9:c.1069+2T>G;NM_020180:exon9:c.1099+2T>G;NM_001025088:exon9:c.1093+2T>G;NM_001025087:exon9:c.1096+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon9:c.1096+2T>G;ENST00000420428:exon9:c.1099+2T>G;ENST00000591287:exon9:c.1096+2T>G;ENST00000334919:exon9:c.1069+2T>G;ENST00000588591:exon3:c.178+2T>G;ENST00000586009:exon2:c.153+2T>G;ENST00000590112:exon6:c.2194+2T>G;ENST00000361795:exon9:c.1093+2T>G;ENST00000601019:exon9:c.1093+2T>G;ENST00000603232:exon9:c.1096+2T>G;ENST00000591282:exon9:c.1099+2T>G;ENST00000593271:exon3:c.166+2T>G;ENST00000589386:exon3:c.166+2T>G;ENST00000588597:exon9:c.1066+2T>G;ENST00000587657:exon3:c.166+2T>G)	.	.	0.999989917668626	0.928
18	34850729	A	G	18	37270766	y	y	splicing	CELF4(NM_001025089:exon9:c.1069+2T>C;NM_020180:exon9:c.1099+2T>C;NM_001025088:exon9:c.1093+2T>C;NM_001025087:exon9:c.1096+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon9:c.1096+2T>C;ENST00000420428:exon9:c.1099+2T>C;ENST00000591287:exon9:c.1096+2T>C;ENST00000334919:exon9:c.1069+2T>C;ENST00000588591:exon3:c.178+2T>C;ENST00000586009:exon2:c.153+2T>C;ENST00000590112:exon6:c.2194+2T>C;ENST00000361795:exon9:c.1093+2T>C;ENST00000601019:exon9:c.1093+2T>C;ENST00000603232:exon9:c.1096+2T>C;ENST00000591282:exon9:c.1099+2T>C;ENST00000593271:exon3:c.166+2T>C;ENST00000589386:exon3:c.166+2T>C;ENST00000588597:exon9:c.1066+2T>C;ENST00000587657:exon3:c.166+2T>C)	.	.	0.991781671885672	0.628
18	34850729	A	T	18	37270766	y	y	splicing	CELF4(NM_001025089:exon9:c.1069+2T>A;NM_020180:exon9:c.1099+2T>A;NM_001025088:exon9:c.1093+2T>A;NM_001025087:exon9:c.1096+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon9:c.1096+2T>A;ENST00000420428:exon9:c.1099+2T>A;ENST00000591287:exon9:c.1096+2T>A;ENST00000334919:exon9:c.1069+2T>A;ENST00000588591:exon3:c.178+2T>A;ENST00000586009:exon2:c.153+2T>A;ENST00000590112:exon6:c.2194+2T>A;ENST00000361795:exon9:c.1093+2T>A;ENST00000601019:exon9:c.1093+2T>A;ENST00000603232:exon9:c.1096+2T>A;ENST00000591282:exon9:c.1099+2T>A;ENST00000593271:exon3:c.166+2T>A;ENST00000589386:exon3:c.166+2T>A;ENST00000588597:exon9:c.1066+2T>A;ENST00000587657:exon3:c.166+2T>A)	.	.	0.999989917668626	0.928
18	34850730	C	A	18	37270767	y	y	splicing	CELF4(NM_001025089:exon9:c.1069+1G>T;NM_020180:exon9:c.1099+1G>T;NM_001025088:exon9:c.1093+1G>T;NM_001025087:exon9:c.1096+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon9:c.1096+1G>T;ENST00000420428:exon9:c.1099+1G>T;ENST00000591287:exon9:c.1096+1G>T;ENST00000334919:exon9:c.1069+1G>T;ENST00000588591:exon3:c.178+1G>T;ENST00000586009:exon2:c.153+1G>T;ENST00000590112:exon6:c.2194+1G>T;ENST00000361795:exon9:c.1093+1G>T;ENST00000601019:exon9:c.1093+1G>T;ENST00000603232:exon9:c.1096+1G>T;ENST00000591282:exon9:c.1099+1G>T;ENST00000593271:exon3:c.166+1G>T;ENST00000589386:exon3:c.166+1G>T;ENST00000588597:exon9:c.1066+1G>T;ENST00000587657:exon3:c.166+1G>T)	.	.	0.999986675681007	0.936
18	34850730	C	G	18	37270767	y	y	splicing	CELF4(NM_001025089:exon9:c.1069+1G>C;NM_020180:exon9:c.1099+1G>C;NM_001025088:exon9:c.1093+1G>C;NM_001025087:exon9:c.1096+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon9:c.1096+1G>C;ENST00000420428:exon9:c.1099+1G>C;ENST00000591287:exon9:c.1096+1G>C;ENST00000334919:exon9:c.1069+1G>C;ENST00000588591:exon3:c.178+1G>C;ENST00000586009:exon2:c.153+1G>C;ENST00000590112:exon6:c.2194+1G>C;ENST00000361795:exon9:c.1093+1G>C;ENST00000601019:exon9:c.1093+1G>C;ENST00000603232:exon9:c.1096+1G>C;ENST00000591282:exon9:c.1099+1G>C;ENST00000593271:exon3:c.166+1G>C;ENST00000589386:exon3:c.166+1G>C;ENST00000588597:exon9:c.1066+1G>C;ENST00000587657:exon3:c.166+1G>C)	.	.	0.999986675681007	0.936
18	34850730	C	T	18	37270767	y	y	splicing	CELF4(NM_001025089:exon9:c.1069+1G>A;NM_020180:exon9:c.1099+1G>A;NM_001025088:exon9:c.1093+1G>A;NM_001025087:exon9:c.1096+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon9:c.1096+1G>A;ENST00000420428:exon9:c.1099+1G>A;ENST00000591287:exon9:c.1096+1G>A;ENST00000334919:exon9:c.1069+1G>A;ENST00000588591:exon3:c.178+1G>A;ENST00000586009:exon2:c.153+1G>A;ENST00000590112:exon6:c.2194+1G>A;ENST00000361795:exon9:c.1093+1G>A;ENST00000601019:exon9:c.1093+1G>A;ENST00000603232:exon9:c.1096+1G>A;ENST00000591282:exon9:c.1099+1G>A;ENST00000593271:exon3:c.166+1G>A;ENST00000589386:exon3:c.166+1G>A;ENST00000588597:exon9:c.1066+1G>A;ENST00000587657:exon3:c.166+1G>A)	.	.	0.999986675681007	0.936
18	34850731	C	A	18	37270768	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.G1069T:p.A357S;CELF4:NM_001025087:exon8:c.G1096T:p.A366S;CELF4:NM_001025088:exon8:c.G1093T:p.A365S;CELF4:NM_020180:exon8:c.G1099T:p.A367S;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.G1069T:p.A357S;ENSG00000101489:ENST00000588597:exon8:c.G1066T:p.A356S;ENSG00000101489:ENST00000601019:exon8:c.G1093T:p.A365S;ENSG00000101489:ENST00000591282:exon8:c.G1099T:p.A367S;ENSG00000101489:ENST00000588591:exon2:c.G178T:p.A60S;ENSG00000101489:ENST00000412753:exon8:c.G1096T:p.A366S;ENSG00000101489:ENST00000591287:exon8:c.G1096T:p.A366S;ENSG00000101489:ENST00000589386:exon2:c.G166T:p.A56S;ENSG00000101489:ENST00000593271:exon2:c.G166T:p.A56S;ENSG00000101489:ENST00000603232:exon8:c.G1096T:p.A366S;ENSG00000101489:ENST00000587657:exon2:c.G166T:p.A56S;ENSG00000101489:ENST00000420428:exon8:c.G1099T:p.A367S;ENSG00000101489:ENST00000361795:exon8:c.G1093T:p.A365S;	0.999676244981052	0.992
18	34850731	C	G	18	37270768	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.G1069C:p.A357P;CELF4:NM_001025087:exon8:c.G1096C:p.A366P;CELF4:NM_001025088:exon8:c.G1093C:p.A365P;CELF4:NM_020180:exon8:c.G1099C:p.A367P;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.G1069C:p.A357P;ENSG00000101489:ENST00000588597:exon8:c.G1066C:p.A356P;ENSG00000101489:ENST00000601019:exon8:c.G1093C:p.A365P;ENSG00000101489:ENST00000591282:exon8:c.G1099C:p.A367P;ENSG00000101489:ENST00000588591:exon2:c.G178C:p.A60P;ENSG00000101489:ENST00000412753:exon8:c.G1096C:p.A366P;ENSG00000101489:ENST00000591287:exon8:c.G1096C:p.A366P;ENSG00000101489:ENST00000589386:exon2:c.G166C:p.A56P;ENSG00000101489:ENST00000593271:exon2:c.G166C:p.A56P;ENSG00000101489:ENST00000603232:exon8:c.G1096C:p.A366P;ENSG00000101489:ENST00000587657:exon2:c.G166C:p.A56P;ENSG00000101489:ENST00000420428:exon8:c.G1099C:p.A367P;ENSG00000101489:ENST00000361795:exon8:c.G1093C:p.A365P;	0.999907415870982	0.946
18	34850731	C	T	18	37270768	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.G1069A:p.A357T;CELF4:NM_001025087:exon8:c.G1096A:p.A366T;CELF4:NM_001025088:exon8:c.G1093A:p.A365T;CELF4:NM_020180:exon8:c.G1099A:p.A367T;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.G1069A:p.A357T;ENSG00000101489:ENST00000588597:exon8:c.G1066A:p.A356T;ENSG00000101489:ENST00000601019:exon8:c.G1093A:p.A365T;ENSG00000101489:ENST00000591282:exon8:c.G1099A:p.A367T;ENSG00000101489:ENST00000588591:exon2:c.G178A:p.A60T;ENSG00000101489:ENST00000412753:exon8:c.G1096A:p.A366T;ENSG00000101489:ENST00000591287:exon8:c.G1096A:p.A366T;ENSG00000101489:ENST00000589386:exon2:c.G166A:p.A56T;ENSG00000101489:ENST00000593271:exon2:c.G166A:p.A56T;ENSG00000101489:ENST00000603232:exon8:c.G1096A:p.A366T;ENSG00000101489:ENST00000587657:exon2:c.G166A:p.A56T;ENSG00000101489:ENST00000420428:exon8:c.G1099A:p.A367T;ENSG00000101489:ENST00000361795:exon8:c.G1093A:p.A365T;	0.999819482480123	0.918
18	34850732	T	A	18	37270769	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon8:c.A1068T:p.P356P;CELF4:NM_001025087:exon8:c.A1095T:p.P365P;CELF4:NM_001025088:exon8:c.A1092T:p.P364P;CELF4:NM_020180:exon8:c.A1098T:p.P366P;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.A1068T:p.P356P;ENSG00000101489:ENST00000588597:exon8:c.A1065T:p.P355P;ENSG00000101489:ENST00000601019:exon8:c.A1092T:p.P364P;ENSG00000101489:ENST00000591282:exon8:c.A1098T:p.P366P;ENSG00000101489:ENST00000588591:exon2:c.A177T:p.P59P;ENSG00000101489:ENST00000412753:exon8:c.A1095T:p.P365P;ENSG00000101489:ENST00000591287:exon8:c.A1095T:p.P365P;ENSG00000101489:ENST00000589386:exon2:c.A165T:p.P55P;ENSG00000101489:ENST00000593271:exon2:c.A165T:p.P55P;ENSG00000101489:ENST00000603232:exon8:c.A1095T:p.P365P;ENSG00000101489:ENST00000587657:exon2:c.A165T:p.P55P;ENSG00000101489:ENST00000420428:exon8:c.A1098T:p.P366P;ENSG00000101489:ENST00000361795:exon8:c.A1092T:p.P364P;	0.879909585371694	0.542
18	34850732	T	C	18	37270769	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon8:c.A1068G:p.P356P;CELF4:NM_001025087:exon8:c.A1095G:p.P365P;CELF4:NM_001025088:exon8:c.A1092G:p.P364P;CELF4:NM_020180:exon8:c.A1098G:p.P366P;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.A1068G:p.P356P;ENSG00000101489:ENST00000588597:exon8:c.A1065G:p.P355P;ENSG00000101489:ENST00000601019:exon8:c.A1092G:p.P364P;ENSG00000101489:ENST00000591282:exon8:c.A1098G:p.P366P;ENSG00000101489:ENST00000588591:exon2:c.A177G:p.P59P;ENSG00000101489:ENST00000412753:exon8:c.A1095G:p.P365P;ENSG00000101489:ENST00000591287:exon8:c.A1095G:p.P365P;ENSG00000101489:ENST00000589386:exon2:c.A165G:p.P55P;ENSG00000101489:ENST00000593271:exon2:c.A165G:p.P55P;ENSG00000101489:ENST00000603232:exon8:c.A1095G:p.P365P;ENSG00000101489:ENST00000587657:exon2:c.A165G:p.P55P;ENSG00000101489:ENST00000420428:exon8:c.A1098G:p.P366P;ENSG00000101489:ENST00000361795:exon8:c.A1092G:p.P364P;	0.914946627012948	0.66
18	34850732	T	G	18	37270769	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon8:c.A1068C:p.P356P;CELF4:NM_001025087:exon8:c.A1095C:p.P365P;CELF4:NM_001025088:exon8:c.A1092C:p.P364P;CELF4:NM_020180:exon8:c.A1098C:p.P366P;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.A1068C:p.P356P;ENSG00000101489:ENST00000588597:exon8:c.A1065C:p.P355P;ENSG00000101489:ENST00000601019:exon8:c.A1092C:p.P364P;ENSG00000101489:ENST00000591282:exon8:c.A1098C:p.P366P;ENSG00000101489:ENST00000588591:exon2:c.A177C:p.P59P;ENSG00000101489:ENST00000412753:exon8:c.A1095C:p.P365P;ENSG00000101489:ENST00000591287:exon8:c.A1095C:p.P365P;ENSG00000101489:ENST00000589386:exon2:c.A165C:p.P55P;ENSG00000101489:ENST00000593271:exon2:c.A165C:p.P55P;ENSG00000101489:ENST00000603232:exon8:c.A1095C:p.P365P;ENSG00000101489:ENST00000587657:exon2:c.A165C:p.P55P;ENSG00000101489:ENST00000420428:exon8:c.A1098C:p.P366P;ENSG00000101489:ENST00000361795:exon8:c.A1092C:p.P364P;	0.882352487572312	0.67
18	34850733	G	A	18	37270770	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.C1067T:p.P356L;CELF4:NM_001025087:exon8:c.C1094T:p.P365L;CELF4:NM_001025088:exon8:c.C1091T:p.P364L;CELF4:NM_020180:exon8:c.C1097T:p.P366L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.C1067T:p.P356L;ENSG00000101489:ENST00000588597:exon8:c.C1064T:p.P355L;ENSG00000101489:ENST00000601019:exon8:c.C1091T:p.P364L;ENSG00000101489:ENST00000591282:exon8:c.C1097T:p.P366L;ENSG00000101489:ENST00000588591:exon2:c.C176T:p.P59L;ENSG00000101489:ENST00000412753:exon8:c.C1094T:p.P365L;ENSG00000101489:ENST00000591287:exon8:c.C1094T:p.P365L;ENSG00000101489:ENST00000589386:exon2:c.C164T:p.P55L;ENSG00000101489:ENST00000593271:exon2:c.C164T:p.P55L;ENSG00000101489:ENST00000603232:exon8:c.C1094T:p.P365L;ENSG00000101489:ENST00000587657:exon2:c.C164T:p.P55L;ENSG00000101489:ENST00000420428:exon8:c.C1097T:p.P366L;ENSG00000101489:ENST00000361795:exon8:c.C1091T:p.P364L;	0.995383416476386	0.716
18	34850733	G	C	18	37270770	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.C1067G:p.P356R;CELF4:NM_001025087:exon8:c.C1094G:p.P365R;CELF4:NM_001025088:exon8:c.C1091G:p.P364R;CELF4:NM_020180:exon8:c.C1097G:p.P366R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.C1067G:p.P356R;ENSG00000101489:ENST00000588597:exon8:c.C1064G:p.P355R;ENSG00000101489:ENST00000601019:exon8:c.C1091G:p.P364R;ENSG00000101489:ENST00000591282:exon8:c.C1097G:p.P366R;ENSG00000101489:ENST00000588591:exon2:c.C176G:p.P59R;ENSG00000101489:ENST00000412753:exon8:c.C1094G:p.P365R;ENSG00000101489:ENST00000591287:exon8:c.C1094G:p.P365R;ENSG00000101489:ENST00000589386:exon2:c.C164G:p.P55R;ENSG00000101489:ENST00000593271:exon2:c.C164G:p.P55R;ENSG00000101489:ENST00000603232:exon8:c.C1094G:p.P365R;ENSG00000101489:ENST00000587657:exon2:c.C164G:p.P55R;ENSG00000101489:ENST00000420428:exon8:c.C1097G:p.P366R;ENSG00000101489:ENST00000361795:exon8:c.C1091G:p.P364R;	0.864675266704016	0.568
18	34850733	G	T	18	37270770	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.C1067A:p.P356Q;CELF4:NM_001025087:exon8:c.C1094A:p.P365Q;CELF4:NM_001025088:exon8:c.C1091A:p.P364Q;CELF4:NM_020180:exon8:c.C1097A:p.P366Q;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.C1067A:p.P356Q;ENSG00000101489:ENST00000588597:exon8:c.C1064A:p.P355Q;ENSG00000101489:ENST00000601019:exon8:c.C1091A:p.P364Q;ENSG00000101489:ENST00000591282:exon8:c.C1097A:p.P366Q;ENSG00000101489:ENST00000588591:exon2:c.C176A:p.P59Q;ENSG00000101489:ENST00000412753:exon8:c.C1094A:p.P365Q;ENSG00000101489:ENST00000591287:exon8:c.C1094A:p.P365Q;ENSG00000101489:ENST00000589386:exon2:c.C164A:p.P55Q;ENSG00000101489:ENST00000593271:exon2:c.C164A:p.P55Q;ENSG00000101489:ENST00000603232:exon8:c.C1094A:p.P365Q;ENSG00000101489:ENST00000587657:exon2:c.C164A:p.P55Q;ENSG00000101489:ENST00000420428:exon8:c.C1097A:p.P366Q;ENSG00000101489:ENST00000361795:exon8:c.C1091A:p.P364Q;	0.927735213637763	0.764
18	34850879	A	C	18	37270916	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon8:c.T921G:p.G307G;CELF4:NM_001025087:exon8:c.T948G:p.G316G;CELF4:NM_001025088:exon8:c.T945G:p.G315G;CELF4:NM_020180:exon8:c.T951G:p.G317G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.T921G:p.G307G;ENSG00000101489:ENST00000588597:exon8:c.T918G:p.G306G;ENSG00000101489:ENST00000601019:exon8:c.T945G:p.G315G;ENSG00000101489:ENST00000591282:exon8:c.T951G:p.G317G;ENSG00000101489:ENST00000588591:exon2:c.T30G:p.G10G;ENSG00000101489:ENST00000412753:exon8:c.T948G:p.G316G;ENSG00000101489:ENST00000591287:exon8:c.T948G:p.G316G;ENSG00000101489:ENST00000589386:exon2:c.T18G:p.G6G;ENSG00000101489:ENST00000593271:exon2:c.T18G:p.G6G;ENSG00000101489:ENST00000603232:exon8:c.T948G:p.G316G;ENSG00000101489:ENST00000587657:exon2:c.T18G:p.G6G;ENSG00000101489:ENST00000420428:exon8:c.T951G:p.G317G;ENSG00000101489:ENST00000361795:exon8:c.T945G:p.G315G;	0.0364335669733865	0.162
18	34850879	A	G	18	37270916	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon8:c.T921C:p.G307G;CELF4:NM_001025087:exon8:c.T948C:p.G316G;CELF4:NM_001025088:exon8:c.T945C:p.G315G;CELF4:NM_020180:exon8:c.T951C:p.G317G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.T921C:p.G307G;ENSG00000101489:ENST00000588597:exon8:c.T918C:p.G306G;ENSG00000101489:ENST00000601019:exon8:c.T945C:p.G315G;ENSG00000101489:ENST00000591282:exon8:c.T951C:p.G317G;ENSG00000101489:ENST00000588591:exon2:c.T30C:p.G10G;ENSG00000101489:ENST00000412753:exon8:c.T948C:p.G316G;ENSG00000101489:ENST00000591287:exon8:c.T948C:p.G316G;ENSG00000101489:ENST00000589386:exon2:c.T18C:p.G6G;ENSG00000101489:ENST00000593271:exon2:c.T18C:p.G6G;ENSG00000101489:ENST00000603232:exon8:c.T948C:p.G316G;ENSG00000101489:ENST00000587657:exon2:c.T18C:p.G6G;ENSG00000101489:ENST00000420428:exon8:c.T951C:p.G317G;ENSG00000101489:ENST00000361795:exon8:c.T945C:p.G315G;	0.0364335669733865	0.16
18	34850879	A	T	18	37270916	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon8:c.T921A:p.G307G;CELF4:NM_001025087:exon8:c.T948A:p.G316G;CELF4:NM_001025088:exon8:c.T945A:p.G315G;CELF4:NM_020180:exon8:c.T951A:p.G317G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.T921A:p.G307G;ENSG00000101489:ENST00000588597:exon8:c.T918A:p.G306G;ENSG00000101489:ENST00000601019:exon8:c.T945A:p.G315G;ENSG00000101489:ENST00000591282:exon8:c.T951A:p.G317G;ENSG00000101489:ENST00000588591:exon2:c.T30A:p.G10G;ENSG00000101489:ENST00000412753:exon8:c.T948A:p.G316G;ENSG00000101489:ENST00000591287:exon8:c.T948A:p.G316G;ENSG00000101489:ENST00000589386:exon2:c.T18A:p.G6G;ENSG00000101489:ENST00000593271:exon2:c.T18A:p.G6G;ENSG00000101489:ENST00000603232:exon8:c.T948A:p.G316G;ENSG00000101489:ENST00000587657:exon2:c.T18A:p.G6G;ENSG00000101489:ENST00000420428:exon8:c.T951A:p.G317G;ENSG00000101489:ENST00000361795:exon8:c.T945A:p.G315G;	0.09034569222438	0.23
18	34850880	C	A	18	37270917	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.G920T:p.G307V;CELF4:NM_001025087:exon8:c.G947T:p.G316V;CELF4:NM_001025088:exon8:c.G944T:p.G315V;CELF4:NM_020180:exon8:c.G950T:p.G317V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.G920T:p.G307V;ENSG00000101489:ENST00000588597:exon8:c.G917T:p.G306V;ENSG00000101489:ENST00000601019:exon8:c.G944T:p.G315V;ENSG00000101489:ENST00000591282:exon8:c.G950T:p.G317V;ENSG00000101489:ENST00000588591:exon2:c.G29T:p.G10V;ENSG00000101489:ENST00000412753:exon8:c.G947T:p.G316V;ENSG00000101489:ENST00000591287:exon8:c.G947T:p.G316V;ENSG00000101489:ENST00000589386:exon2:c.G17T:p.G6V;ENSG00000101489:ENST00000593271:exon2:c.G17T:p.G6V;ENSG00000101489:ENST00000603232:exon8:c.G947T:p.G316V;ENSG00000101489:ENST00000587657:exon2:c.G17T:p.G6V;ENSG00000101489:ENST00000420428:exon8:c.G950T:p.G317V;ENSG00000101489:ENST00000361795:exon8:c.G944T:p.G315V;	0.998394539065482	0.882
18	34850880	C	G	18	37270917	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.G920C:p.G307A;CELF4:NM_001025087:exon8:c.G947C:p.G316A;CELF4:NM_001025088:exon8:c.G944C:p.G315A;CELF4:NM_020180:exon8:c.G950C:p.G317A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.G920C:p.G307A;ENSG00000101489:ENST00000588597:exon8:c.G917C:p.G306A;ENSG00000101489:ENST00000601019:exon8:c.G944C:p.G315A;ENSG00000101489:ENST00000591282:exon8:c.G950C:p.G317A;ENSG00000101489:ENST00000588591:exon2:c.G29C:p.G10A;ENSG00000101489:ENST00000412753:exon8:c.G947C:p.G316A;ENSG00000101489:ENST00000591287:exon8:c.G947C:p.G316A;ENSG00000101489:ENST00000589386:exon2:c.G17C:p.G6A;ENSG00000101489:ENST00000593271:exon2:c.G17C:p.G6A;ENSG00000101489:ENST00000603232:exon8:c.G947C:p.G316A;ENSG00000101489:ENST00000587657:exon2:c.G17C:p.G6A;ENSG00000101489:ENST00000420428:exon8:c.G950C:p.G317A;ENSG00000101489:ENST00000361795:exon8:c.G944C:p.G315A;	0.934756924972058	0.796
18	34850880	C	T	18	37270917	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon8:c.G920A:p.G307D;CELF4:NM_001025087:exon8:c.G947A:p.G316D;CELF4:NM_001025088:exon8:c.G944A:p.G315D;CELF4:NM_020180:exon8:c.G950A:p.G317D;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon8:c.G920A:p.G307D;ENSG00000101489:ENST00000588597:exon8:c.G917A:p.G306D;ENSG00000101489:ENST00000601019:exon8:c.G944A:p.G315D;ENSG00000101489:ENST00000591282:exon8:c.G950A:p.G317D;ENSG00000101489:ENST00000588591:exon2:c.G29A:p.G10D;ENSG00000101489:ENST00000412753:exon8:c.G947A:p.G316D;ENSG00000101489:ENST00000591287:exon8:c.G947A:p.G316D;ENSG00000101489:ENST00000589386:exon2:c.G17A:p.G6D;ENSG00000101489:ENST00000593271:exon2:c.G17A:p.G6D;ENSG00000101489:ENST00000603232:exon8:c.G947A:p.G316D;ENSG00000101489:ENST00000587657:exon2:c.G17A:p.G6D;ENSG00000101489:ENST00000420428:exon8:c.G950A:p.G317D;ENSG00000101489:ENST00000361795:exon8:c.G944A:p.G315D;	0.883087241842311	0.726
18	34850881	C	A	18	37270918	y	n	splicing	CELF4(NM_001025089:exon9:c.920-1G>T;NM_020180:exon9:c.950-1G>T;NM_001025088:exon9:c.944-1G>T;NM_001025087:exon9:c.947-1G>T)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon9:c.947-1G>T;ENST00000420428:exon9:c.950-1G>T;ENST00000591287:exon9:c.947-1G>T;ENST00000334919:exon9:c.920-1G>T;ENST00000588591:exon3:c.29-1G>T;ENST00000590112:exon6:c.2045-1G>T;ENST00000361795:exon9:c.944-1G>T;ENST00000601019:exon9:c.944-1G>T;ENST00000603232:exon9:c.947-1G>T;ENST00000591282:exon9:c.950-1G>T;ENST00000593271:exon3:c.17-1G>T;ENST00000589386:exon3:c.17-1G>T;ENST00000588597:exon9:c.917-1G>T;ENST00000587657:exon3:c.17-1G>T)	unknown	UNKNOWN	0.999990938371702	0.936
18	34850881	C	G	18	37270918	y	n	splicing	CELF4(NM_001025089:exon9:c.920-1G>C;NM_020180:exon9:c.950-1G>C;NM_001025088:exon9:c.944-1G>C;NM_001025087:exon9:c.947-1G>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon9:c.947-1G>C;ENST00000420428:exon9:c.950-1G>C;ENST00000591287:exon9:c.947-1G>C;ENST00000334919:exon9:c.920-1G>C;ENST00000588591:exon3:c.29-1G>C;ENST00000590112:exon6:c.2045-1G>C;ENST00000361795:exon9:c.944-1G>C;ENST00000601019:exon9:c.944-1G>C;ENST00000603232:exon9:c.947-1G>C;ENST00000591282:exon9:c.950-1G>C;ENST00000593271:exon3:c.17-1G>C;ENST00000589386:exon3:c.17-1G>C;ENST00000588597:exon9:c.917-1G>C;ENST00000587657:exon3:c.17-1G>C)	unknown	UNKNOWN	0.999990938371702	0.936
18	34850881	C	T	18	37270918	y	n	splicing	CELF4(NM_001025089:exon9:c.920-1G>A;NM_020180:exon9:c.950-1G>A;NM_001025088:exon9:c.944-1G>A;NM_001025087:exon9:c.947-1G>A)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon9:c.947-1G>A;ENST00000420428:exon9:c.950-1G>A;ENST00000591287:exon9:c.947-1G>A;ENST00000334919:exon9:c.920-1G>A;ENST00000588591:exon3:c.29-1G>A;ENST00000590112:exon6:c.2045-1G>A;ENST00000361795:exon9:c.944-1G>A;ENST00000601019:exon9:c.944-1G>A;ENST00000603232:exon9:c.947-1G>A;ENST00000591282:exon9:c.950-1G>A;ENST00000593271:exon3:c.17-1G>A;ENST00000589386:exon3:c.17-1G>A;ENST00000588597:exon9:c.917-1G>A;ENST00000587657:exon3:c.17-1G>A)	unknown	UNKNOWN	0.999990938371702	0.936
18	34850882	T	A	18	37270919	y	n	splicing	CELF4(NM_001025089:exon9:c.920-2A>T;NM_020180:exon9:c.950-2A>T;NM_001025088:exon9:c.944-2A>T;NM_001025087:exon9:c.947-2A>T)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon9:c.947-2A>T;ENST00000420428:exon9:c.950-2A>T;ENST00000591287:exon9:c.947-2A>T;ENST00000334919:exon9:c.920-2A>T;ENST00000588591:exon3:c.29-2A>T;ENST00000590112:exon6:c.2045-2A>T;ENST00000361795:exon9:c.944-2A>T;ENST00000601019:exon9:c.944-2A>T;ENST00000603232:exon9:c.947-2A>T;ENST00000591282:exon9:c.950-2A>T;ENST00000593271:exon3:c.17-2A>T;ENST00000589386:exon3:c.17-2A>T;ENST00000588597:exon9:c.917-2A>T;ENST00000587657:exon3:c.17-2A>T)	unknown	UNKNOWN	0.999993143195943	0.93
18	34850882	T	C	18	37270919	y	n	splicing	CELF4(NM_001025089:exon9:c.920-2A>G;NM_020180:exon9:c.950-2A>G;NM_001025088:exon9:c.944-2A>G;NM_001025087:exon9:c.947-2A>G)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon9:c.947-2A>G;ENST00000420428:exon9:c.950-2A>G;ENST00000591287:exon9:c.947-2A>G;ENST00000334919:exon9:c.920-2A>G;ENST00000588591:exon3:c.29-2A>G;ENST00000590112:exon6:c.2045-2A>G;ENST00000361795:exon9:c.944-2A>G;ENST00000601019:exon9:c.944-2A>G;ENST00000603232:exon9:c.947-2A>G;ENST00000591282:exon9:c.950-2A>G;ENST00000593271:exon3:c.17-2A>G;ENST00000589386:exon3:c.17-2A>G;ENST00000588597:exon9:c.917-2A>G;ENST00000587657:exon3:c.17-2A>G)	unknown	UNKNOWN	0.999993143195943	0.93
18	34850882	T	G	18	37270919	y	n	splicing	CELF4(NM_001025089:exon9:c.920-2A>C;NM_020180:exon9:c.950-2A>C;NM_001025088:exon9:c.944-2A>C;NM_001025087:exon9:c.947-2A>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon9:c.947-2A>C;ENST00000420428:exon9:c.950-2A>C;ENST00000591287:exon9:c.947-2A>C;ENST00000334919:exon9:c.920-2A>C;ENST00000588591:exon3:c.29-2A>C;ENST00000590112:exon6:c.2045-2A>C;ENST00000361795:exon9:c.944-2A>C;ENST00000601019:exon9:c.944-2A>C;ENST00000603232:exon9:c.947-2A>C;ENST00000591282:exon9:c.950-2A>C;ENST00000593271:exon3:c.17-2A>C;ENST00000589386:exon3:c.17-2A>C;ENST00000588597:exon9:c.917-2A>C;ENST00000587657:exon3:c.17-2A>C)	unknown	UNKNOWN	0.999993143195943	0.93
18	34850883	G	A	18	37270920	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	unknown	UNKNOWN	0.0589537938597246	0.256
18	34850883	G	C	18	37270920	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	unknown	UNKNOWN	0.999969775957516	0.87
18	34850883	G	T	18	37270920	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	unknown	UNKNOWN	0.99980991295053	0.924
18	34850884	G	A	18	37270921	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.42881546487005E-4	0.19
18	34850884	G	C	18	37270921	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999224445930277	0.964
18	34850884	G	T	18	37270921	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	8.96280029585902E-5	0.098
18	34850885	T	A	18	37270922	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.6166604425131E-5	0.0
18	34850885	T	C	18	37270922	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.958463170634169	0.936
18	34850885	T	G	18	37270922	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.41788345224096E-5	0.0
18	34850886	T	A	18	37270923	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.8474152577308E-4	0.06
18	34850886	T	C	18	37270923	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.72330342311641E-4	0.062
18	34850886	T	G	18	37270923	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.07407329481025E-4	0.058
18	34850887	C	A	18	37270924	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.12314213875365E-4	0.056
18	34850887	C	G	18	37270924	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.12314213875365E-4	0.018
18	34850887	C	T	18	37270924	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.14782405113193E-4	0.006
18	34850888	C	A	18	37270925	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.41542019843852E-4	0.05
18	34850888	C	G	18	37270925	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.51946012586473E-4	0.044
18	34850888	C	T	18	37270925	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999773553916527	0.97
18	34850889	A	C	18	37270926	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.819084808058983	0.742
18	34850889	A	G	18	37270926	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00357183989971821	0.12
18	34850889	A	T	18	37270926	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999949269733217	0.956
18	34850890	G	A	18	37270927	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	9.88048703445212E-5	0.01
18	34850890	G	C	18	37270927	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00164140959395417	0.084
18	34850890	G	T	18	37270927	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0194948213543159	0.124
18	34850891	G	A	18	37270928	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.22896464690615E-4	0.004
18	34850891	G	C	18	37270928	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00696468662729612	0.094
18	34850891	G	T	18	37270928	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.192710593198884	0.17
18	34850892	C	A	18	37270929	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.03488284773683E-5	0.002
18	34850892	C	G	18	37270929	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.3102979738208E-5	0.002
18	34850892	C	T	18	37270929	y	n	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.15533907886323E-5	0.0
18	34852971	C	A	18	37273008	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.55591704267905E-5	0.002
18	34852971	C	G	18	37273008	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.80791670473476E-5	0.0
18	34852971	C	T	18	37273008	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.06690185443526E-5	0.0
18	34852972	A	C	18	37273009	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.04590715604386E-5	0.0
18	34852972	A	G	18	37273009	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.04590715604386E-5	0.0
18	34852972	A	T	18	37273009	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.81504373997162E-5	0.0
18	34852973	G	A	18	37273010	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.64526560328462E-5	0.0
18	34852973	G	C	18	37273010	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.14217069857866E-4	0.028
18	34852973	G	T	18	37273010	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.4962618996636E-4	0.024
18	34852974	C	A	18	37273011	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999452398164146	0.866
18	34852974	C	G	18	37273011	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.996713154547402	0.816
18	34852974	C	T	18	37273011	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999798956670423	0.966
18	34852975	T	A	18	37273012	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.989660541490636	0.702
18	34852975	T	C	18	37273012	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.586162849516358	0.404
18	34852975	T	G	18	37273012	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.737056439530269	0.424
18	34852976	C	A	18	37273013	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.884534865268953	0.592
18	34852976	C	G	18	37273013	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.332667364042045	0.64
18	34852976	C	T	18	37273013	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.82789831418459E-4	0.002
18	34852977	A	C	18	37273014	y	y	splicing	CELF4(NM_001025089:exon8:c.919+2T>G;NM_020180:exon8:c.949+2T>G;NM_001025088:exon8:c.943+2T>G;NM_001025087:exon8:c.946+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon8:c.946+2T>G;ENST00000420428:exon8:c.949+2T>G;ENST00000591287:exon8:c.946+2T>G;ENST00000334919:exon8:c.919+2T>G;ENST00000588591:exon2:c.28+2T>G;ENST00000590112:exon5:c.2044+2T>G;ENST00000361795:exon8:c.943+2T>G;ENST00000601019:exon8:c.943+2T>G;ENST00000603232:exon8:c.946+2T>G;ENST00000591282:exon8:c.949+2T>G;ENST00000593271:exon2:c.16+2T>G;ENST00000589386:exon2:c.16+2T>G;ENST00000588597:exon8:c.916+2T>G;ENST00000587657:exon2:c.16+2T>G)	.	.	0.999988247793601	0.93
18	34852977	A	G	18	37273014	y	y	splicing	CELF4(NM_001025089:exon8:c.919+2T>C;NM_020180:exon8:c.949+2T>C;NM_001025088:exon8:c.943+2T>C;NM_001025087:exon8:c.946+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon8:c.946+2T>C;ENST00000420428:exon8:c.949+2T>C;ENST00000591287:exon8:c.946+2T>C;ENST00000334919:exon8:c.919+2T>C;ENST00000588591:exon2:c.28+2T>C;ENST00000590112:exon5:c.2044+2T>C;ENST00000361795:exon8:c.943+2T>C;ENST00000601019:exon8:c.943+2T>C;ENST00000603232:exon8:c.946+2T>C;ENST00000591282:exon8:c.949+2T>C;ENST00000593271:exon2:c.16+2T>C;ENST00000589386:exon2:c.16+2T>C;ENST00000588597:exon8:c.916+2T>C;ENST00000587657:exon2:c.16+2T>C)	.	.	0.999929727175276	0.868
18	34852977	A	T	18	37273014	y	y	splicing	CELF4(NM_001025089:exon8:c.919+2T>A;NM_020180:exon8:c.949+2T>A;NM_001025088:exon8:c.943+2T>A;NM_001025087:exon8:c.946+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon8:c.946+2T>A;ENST00000420428:exon8:c.949+2T>A;ENST00000591287:exon8:c.946+2T>A;ENST00000334919:exon8:c.919+2T>A;ENST00000588591:exon2:c.28+2T>A;ENST00000590112:exon5:c.2044+2T>A;ENST00000361795:exon8:c.943+2T>A;ENST00000601019:exon8:c.943+2T>A;ENST00000603232:exon8:c.946+2T>A;ENST00000591282:exon8:c.949+2T>A;ENST00000593271:exon2:c.16+2T>A;ENST00000589386:exon2:c.16+2T>A;ENST00000588597:exon8:c.916+2T>A;ENST00000587657:exon2:c.16+2T>A)	.	.	0.999988247793601	0.93
18	34852978	C	A	18	37273015	y	y	splicing	CELF4(NM_001025089:exon8:c.919+1G>T;NM_020180:exon8:c.949+1G>T;NM_001025088:exon8:c.943+1G>T;NM_001025087:exon8:c.946+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon8:c.946+1G>T;ENST00000420428:exon8:c.949+1G>T;ENST00000591287:exon8:c.946+1G>T;ENST00000334919:exon8:c.919+1G>T;ENST00000588591:exon2:c.28+1G>T;ENST00000590112:exon5:c.2044+1G>T;ENST00000361795:exon8:c.943+1G>T;ENST00000601019:exon8:c.943+1G>T;ENST00000603232:exon8:c.946+1G>T;ENST00000591282:exon8:c.949+1G>T;ENST00000593271:exon2:c.16+1G>T;ENST00000589386:exon2:c.16+1G>T;ENST00000588597:exon8:c.916+1G>T;ENST00000587657:exon2:c.16+1G>T)	.	.	0.999990361384395	0.938
18	34852978	C	G	18	37273015	y	y	splicing	CELF4(NM_001025089:exon8:c.919+1G>C;NM_020180:exon8:c.949+1G>C;NM_001025088:exon8:c.943+1G>C;NM_001025087:exon8:c.946+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon8:c.946+1G>C;ENST00000420428:exon8:c.949+1G>C;ENST00000591287:exon8:c.946+1G>C;ENST00000334919:exon8:c.919+1G>C;ENST00000588591:exon2:c.28+1G>C;ENST00000590112:exon5:c.2044+1G>C;ENST00000361795:exon8:c.943+1G>C;ENST00000601019:exon8:c.943+1G>C;ENST00000603232:exon8:c.946+1G>C;ENST00000591282:exon8:c.949+1G>C;ENST00000593271:exon2:c.16+1G>C;ENST00000589386:exon2:c.16+1G>C;ENST00000588597:exon8:c.916+1G>C;ENST00000587657:exon2:c.16+1G>C)	.	.	0.999990361384395	0.938
18	34852978	C	T	18	37273015	y	y	splicing	CELF4(NM_001025089:exon8:c.919+1G>A;NM_020180:exon8:c.949+1G>A;NM_001025088:exon8:c.943+1G>A;NM_001025087:exon8:c.946+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon8:c.946+1G>A;ENST00000420428:exon8:c.949+1G>A;ENST00000591287:exon8:c.946+1G>A;ENST00000334919:exon8:c.919+1G>A;ENST00000588591:exon2:c.28+1G>A;ENST00000590112:exon5:c.2044+1G>A;ENST00000361795:exon8:c.943+1G>A;ENST00000601019:exon8:c.943+1G>A;ENST00000603232:exon8:c.946+1G>A;ENST00000591282:exon8:c.949+1G>A;ENST00000593271:exon2:c.16+1G>A;ENST00000589386:exon2:c.16+1G>A;ENST00000588597:exon8:c.916+1G>A;ENST00000587657:exon2:c.16+1G>A)	.	.	0.999990361384395	0.938
18	34852979	C	A	18	37273016	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.G919T:p.G307C;CELF4:NM_001025087:exon7:c.G946T:p.G316C;CELF4:NM_001025088:exon7:c.G943T:p.G315C;CELF4:NM_020180:exon7:c.G949T:p.G317C;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.G919T:p.G307C;ENSG00000101489:ENST00000588597:exon7:c.G916T:p.G306C;ENSG00000101489:ENST00000601019:exon7:c.G943T:p.G315C;ENSG00000101489:ENST00000591282:exon7:c.G949T:p.G317C;ENSG00000101489:ENST00000588591:exon1:c.G28T:p.G10C;ENSG00000101489:ENST00000412753:exon7:c.G946T:p.G316C;ENSG00000101489:ENST00000591287:exon7:c.G946T:p.G316C;ENSG00000101489:ENST00000589386:exon1:c.G16T:p.G6C;ENSG00000101489:ENST00000593271:exon1:c.G16T:p.G6C;ENSG00000101489:ENST00000603232:exon7:c.G946T:p.G316C;ENSG00000101489:ENST00000587657:exon1:c.G16T:p.G6C;ENSG00000101489:ENST00000420428:exon7:c.G949T:p.G317C;ENSG00000101489:ENST00000361795:exon7:c.G943T:p.G315C;	0.999972482551795	0.972
18	34852979	C	G	18	37273016	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.G919C:p.G307R;CELF4:NM_001025087:exon7:c.G946C:p.G316R;CELF4:NM_001025088:exon7:c.G943C:p.G315R;CELF4:NM_020180:exon7:c.G949C:p.G317R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.G919C:p.G307R;ENSG00000101489:ENST00000588597:exon7:c.G916C:p.G306R;ENSG00000101489:ENST00000601019:exon7:c.G943C:p.G315R;ENSG00000101489:ENST00000591282:exon7:c.G949C:p.G317R;ENSG00000101489:ENST00000588591:exon1:c.G28C:p.G10R;ENSG00000101489:ENST00000412753:exon7:c.G946C:p.G316R;ENSG00000101489:ENST00000591287:exon7:c.G946C:p.G316R;ENSG00000101489:ENST00000589386:exon1:c.G16C:p.G6R;ENSG00000101489:ENST00000593271:exon1:c.G16C:p.G6R;ENSG00000101489:ENST00000603232:exon7:c.G946C:p.G316R;ENSG00000101489:ENST00000587657:exon1:c.G16C:p.G6R;ENSG00000101489:ENST00000420428:exon7:c.G949C:p.G317R;ENSG00000101489:ENST00000361795:exon7:c.G943C:p.G315R;	0.999997149573825	0.99
18	34852979	C	T	18	37273016	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.G919A:p.G307S;CELF4:NM_001025087:exon7:c.G946A:p.G316S;CELF4:NM_001025088:exon7:c.G943A:p.G315S;CELF4:NM_020180:exon7:c.G949A:p.G317S;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.G919A:p.G307S;ENSG00000101489:ENST00000588597:exon7:c.G916A:p.G306S;ENSG00000101489:ENST00000601019:exon7:c.G943A:p.G315S;ENSG00000101489:ENST00000591282:exon7:c.G949A:p.G317S;ENSG00000101489:ENST00000588591:exon1:c.G28A:p.G10S;ENSG00000101489:ENST00000412753:exon7:c.G946A:p.G316S;ENSG00000101489:ENST00000591287:exon7:c.G946A:p.G316S;ENSG00000101489:ENST00000589386:exon1:c.G16A:p.G6S;ENSG00000101489:ENST00000593271:exon1:c.G16A:p.G6S;ENSG00000101489:ENST00000603232:exon7:c.G946A:p.G316S;ENSG00000101489:ENST00000587657:exon1:c.G16A:p.G6S;ENSG00000101489:ENST00000420428:exon7:c.G949A:p.G317S;ENSG00000101489:ENST00000361795:exon7:c.G943A:p.G315S;	0.999959665731092	0.968
18	34852980	T	A	18	37273017	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon7:c.A918T:p.S306S;CELF4:NM_001025087:exon7:c.A945T:p.S315S;CELF4:NM_001025088:exon7:c.A942T:p.S314S;CELF4:NM_020180:exon7:c.A948T:p.S316S;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.A918T:p.S306S;ENSG00000101489:ENST00000588597:exon7:c.A915T:p.S305S;ENSG00000101489:ENST00000601019:exon7:c.A942T:p.S314S;ENSG00000101489:ENST00000591282:exon7:c.A948T:p.S316S;ENSG00000101489:ENST00000588591:exon1:c.A27T:p.S9S;ENSG00000101489:ENST00000412753:exon7:c.A945T:p.S315S;ENSG00000101489:ENST00000591287:exon7:c.A945T:p.S315S;ENSG00000101489:ENST00000589386:exon1:c.A15T:p.S5S;ENSG00000101489:ENST00000593271:exon1:c.A15T:p.S5S;ENSG00000101489:ENST00000603232:exon7:c.A945T:p.S315S;ENSG00000101489:ENST00000587657:exon1:c.A15T:p.S5S;ENSG00000101489:ENST00000420428:exon7:c.A948T:p.S316S;ENSG00000101489:ENST00000361795:exon7:c.A942T:p.S314S;	0.997911346683896	0.976
18	34852980	T	C	18	37273017	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon7:c.A918G:p.S306S;CELF4:NM_001025087:exon7:c.A945G:p.S315S;CELF4:NM_001025088:exon7:c.A942G:p.S314S;CELF4:NM_020180:exon7:c.A948G:p.S316S;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.A918G:p.S306S;ENSG00000101489:ENST00000588597:exon7:c.A915G:p.S305S;ENSG00000101489:ENST00000601019:exon7:c.A942G:p.S314S;ENSG00000101489:ENST00000591282:exon7:c.A948G:p.S316S;ENSG00000101489:ENST00000588591:exon1:c.A27G:p.S9S;ENSG00000101489:ENST00000412753:exon7:c.A945G:p.S315S;ENSG00000101489:ENST00000591287:exon7:c.A945G:p.S315S;ENSG00000101489:ENST00000589386:exon1:c.A15G:p.S5S;ENSG00000101489:ENST00000593271:exon1:c.A15G:p.S5S;ENSG00000101489:ENST00000603232:exon7:c.A945G:p.S315S;ENSG00000101489:ENST00000587657:exon1:c.A15G:p.S5S;ENSG00000101489:ENST00000420428:exon7:c.A948G:p.S316S;ENSG00000101489:ENST00000361795:exon7:c.A942G:p.S314S;	0.998480896169334	0.994
18	34852980	T	G	18	37273017	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon7:c.A918C:p.S306S;CELF4:NM_001025087:exon7:c.A945C:p.S315S;CELF4:NM_001025088:exon7:c.A942C:p.S314S;CELF4:NM_020180:exon7:c.A948C:p.S316S;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.A918C:p.S306S;ENSG00000101489:ENST00000588597:exon7:c.A915C:p.S305S;ENSG00000101489:ENST00000601019:exon7:c.A942C:p.S314S;ENSG00000101489:ENST00000591282:exon7:c.A948C:p.S316S;ENSG00000101489:ENST00000588591:exon1:c.A27C:p.S9S;ENSG00000101489:ENST00000412753:exon7:c.A945C:p.S315S;ENSG00000101489:ENST00000591287:exon7:c.A945C:p.S315S;ENSG00000101489:ENST00000589386:exon1:c.A15C:p.S5S;ENSG00000101489:ENST00000593271:exon1:c.A15C:p.S5S;ENSG00000101489:ENST00000603232:exon7:c.A945C:p.S315S;ENSG00000101489:ENST00000587657:exon1:c.A15C:p.S5S;ENSG00000101489:ENST00000420428:exon7:c.A948C:p.S316S;ENSG00000101489:ENST00000361795:exon7:c.A942C:p.S314S;	0.997537595091342	0.972
18	34852981	G	A	18	37273018	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.C917T:p.S306L;CELF4:NM_001025087:exon7:c.C944T:p.S315L;CELF4:NM_001025088:exon7:c.C941T:p.S314L;CELF4:NM_020180:exon7:c.C947T:p.S316L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.C917T:p.S306L;ENSG00000101489:ENST00000588597:exon7:c.C914T:p.S305L;ENSG00000101489:ENST00000601019:exon7:c.C941T:p.S314L;ENSG00000101489:ENST00000591282:exon7:c.C947T:p.S316L;ENSG00000101489:ENST00000588591:exon1:c.C26T:p.S9L;ENSG00000101489:ENST00000412753:exon7:c.C944T:p.S315L;ENSG00000101489:ENST00000591287:exon7:c.C944T:p.S315L;ENSG00000101489:ENST00000589386:exon1:c.C14T:p.S5L;ENSG00000101489:ENST00000593271:exon1:c.C14T:p.S5L;ENSG00000101489:ENST00000603232:exon7:c.C944T:p.S315L;ENSG00000101489:ENST00000587657:exon1:c.C14T:p.S5L;ENSG00000101489:ENST00000420428:exon7:c.C947T:p.S316L;ENSG00000101489:ENST00000361795:exon7:c.C941T:p.S314L;	0.99676838100196	0.842
18	34852981	G	C	18	37273018	y	y	exonic	CELF4	stopgain SNV	CELF4:NM_001025089:exon7:c.C917G:p.S306X;CELF4:NM_001025087:exon7:c.C944G:p.S315X;CELF4:NM_001025088:exon7:c.C941G:p.S314X;CELF4:NM_020180:exon7:c.C947G:p.S316X;	exonic	ENSG00000101489	stopgain SNV	ENSG00000101489:ENST00000334919:exon7:c.C917G:p.S306X;ENSG00000101489:ENST00000588597:exon7:c.C914G:p.S305X;ENSG00000101489:ENST00000601019:exon7:c.C941G:p.S314X;ENSG00000101489:ENST00000591282:exon7:c.C947G:p.S316X;ENSG00000101489:ENST00000588591:exon1:c.C26G:p.S9X;ENSG00000101489:ENST00000412753:exon7:c.C944G:p.S315X;ENSG00000101489:ENST00000591287:exon7:c.C944G:p.S315X;ENSG00000101489:ENST00000589386:exon1:c.C14G:p.S5X;ENSG00000101489:ENST00000593271:exon1:c.C14G:p.S5X;ENSG00000101489:ENST00000603232:exon7:c.C944G:p.S315X;ENSG00000101489:ENST00000587657:exon1:c.C14G:p.S5X;ENSG00000101489:ENST00000420428:exon7:c.C947G:p.S316X;ENSG00000101489:ENST00000361795:exon7:c.C941G:p.S314X;	0.937281334535553	0.67
18	34852981	G	T	18	37273018	y	y	exonic	CELF4	stopgain SNV	CELF4:NM_001025089:exon7:c.C917A:p.S306X;CELF4:NM_001025087:exon7:c.C944A:p.S315X;CELF4:NM_001025088:exon7:c.C941A:p.S314X;CELF4:NM_020180:exon7:c.C947A:p.S316X;	exonic	ENSG00000101489	stopgain SNV	ENSG00000101489:ENST00000334919:exon7:c.C917A:p.S306X;ENSG00000101489:ENST00000588597:exon7:c.C914A:p.S305X;ENSG00000101489:ENST00000601019:exon7:c.C941A:p.S314X;ENSG00000101489:ENST00000591282:exon7:c.C947A:p.S316X;ENSG00000101489:ENST00000588591:exon1:c.C26A:p.S9X;ENSG00000101489:ENST00000412753:exon7:c.C944A:p.S315X;ENSG00000101489:ENST00000591287:exon7:c.C944A:p.S315X;ENSG00000101489:ENST00000589386:exon1:c.C14A:p.S5X;ENSG00000101489:ENST00000593271:exon1:c.C14A:p.S5X;ENSG00000101489:ENST00000603232:exon7:c.C944A:p.S315X;ENSG00000101489:ENST00000587657:exon1:c.C14A:p.S5X;ENSG00000101489:ENST00000420428:exon7:c.C947A:p.S316X;ENSG00000101489:ENST00000361795:exon7:c.C941A:p.S314X;	0.962552502864053	0.856
18	34853125	A	C	18	37273162	y	y	exonic;splicing	CELF4;CELF4(NM_001025088:exon8:c.799-2T>G;NM_001025087:exon8:c.802-2T>G)	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.T773G:p.L258R;CELF4:NM_020180:exon7:c.T803G:p.L268R;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon8:c.802-2T>G;ENST00000361795:exon8:c.799-2T>G)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.T773G:p.L258R;ENSG00000101489:ENST00000588597:exon7:c.T770G:p.L257R;ENSG00000101489:ENST00000601019:exon7:c.T797G:p.L266R;ENSG00000101489:ENST00000591282:exon7:c.T803G:p.L268R;ENSG00000101489:ENST00000591287:exon7:c.T800G:p.L267R;ENSG00000101489:ENST00000601392:exon7:c.T773G:p.L258R;ENSG00000101489:ENST00000589229:exon7:c.T434G:p.L145R;ENSG00000101489:ENST00000603232:exon7:c.T800G:p.L267R;ENSG00000101489:ENST00000587819:exon7:c.T401G:p.L134R;ENSG00000101489:ENST00000420428:exon7:c.T803G:p.L268R;	0.769737417793114	0.396
18	34853125	A	G	18	37273162	y	y	exonic;splicing	CELF4;CELF4(NM_001025088:exon8:c.799-2T>C;NM_001025087:exon8:c.802-2T>C)	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.T773C:p.L258P;CELF4:NM_020180:exon7:c.T803C:p.L268P;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon8:c.802-2T>C;ENST00000361795:exon8:c.799-2T>C)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.T773C:p.L258P;ENSG00000101489:ENST00000588597:exon7:c.T770C:p.L257P;ENSG00000101489:ENST00000601019:exon7:c.T797C:p.L266P;ENSG00000101489:ENST00000591282:exon7:c.T803C:p.L268P;ENSG00000101489:ENST00000591287:exon7:c.T800C:p.L267P;ENSG00000101489:ENST00000601392:exon7:c.T773C:p.L258P;ENSG00000101489:ENST00000589229:exon7:c.T434C:p.L145P;ENSG00000101489:ENST00000603232:exon7:c.T800C:p.L267P;ENSG00000101489:ENST00000587819:exon7:c.T401C:p.L134P;ENSG00000101489:ENST00000420428:exon7:c.T803C:p.L268P;	0.840362559022209	0.452
18	34853125	A	T	18	37273162	y	y	exonic;splicing	CELF4;CELF4(NM_001025088:exon8:c.799-2T>A;NM_001025087:exon8:c.802-2T>A)	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.T773A:p.L258Q;CELF4:NM_020180:exon7:c.T803A:p.L268Q;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon8:c.802-2T>A;ENST00000361795:exon8:c.799-2T>A)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.T773A:p.L258Q;ENSG00000101489:ENST00000588597:exon7:c.T770A:p.L257Q;ENSG00000101489:ENST00000601019:exon7:c.T797A:p.L266Q;ENSG00000101489:ENST00000591282:exon7:c.T803A:p.L268Q;ENSG00000101489:ENST00000591287:exon7:c.T800A:p.L267Q;ENSG00000101489:ENST00000601392:exon7:c.T773A:p.L258Q;ENSG00000101489:ENST00000589229:exon7:c.T434A:p.L145Q;ENSG00000101489:ENST00000603232:exon7:c.T800A:p.L267Q;ENSG00000101489:ENST00000587819:exon7:c.T401A:p.L134Q;ENSG00000101489:ENST00000420428:exon7:c.T803A:p.L268Q;	0.891882146287294	0.536
18	34853126	G	A	18	37273163	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon7:c.C772T:p.L258L;CELF4:NM_020180:exon7:c.C802T:p.L268L;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.C772T:p.L258L;ENSG00000101489:ENST00000588597:exon7:c.C769T:p.L257L;ENSG00000101489:ENST00000601019:exon7:c.C796T:p.L266L;ENSG00000101489:ENST00000591282:exon7:c.C802T:p.L268L;ENSG00000101489:ENST00000591287:exon7:c.C799T:p.L267L;ENSG00000101489:ENST00000601392:exon7:c.C772T:p.L258L;ENSG00000101489:ENST00000589229:exon7:c.C433T:p.L145L;ENSG00000101489:ENST00000603232:exon7:c.C799T:p.L267L;ENSG00000101489:ENST00000587819:exon7:c.C400T:p.L134L;ENSG00000101489:ENST00000420428:exon7:c.C802T:p.L268L;	0.237669921558334	0.496
18	34853126	G	C	18	37273163	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.C772G:p.L258V;CELF4:NM_020180:exon7:c.C802G:p.L268V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.C772G:p.L258V;ENSG00000101489:ENST00000588597:exon7:c.C769G:p.L257V;ENSG00000101489:ENST00000601019:exon7:c.C796G:p.L266V;ENSG00000101489:ENST00000591282:exon7:c.C802G:p.L268V;ENSG00000101489:ENST00000591287:exon7:c.C799G:p.L267V;ENSG00000101489:ENST00000601392:exon7:c.C772G:p.L258V;ENSG00000101489:ENST00000589229:exon7:c.C433G:p.L145V;ENSG00000101489:ENST00000603232:exon7:c.C799G:p.L267V;ENSG00000101489:ENST00000587819:exon7:c.C400G:p.L134V;ENSG00000101489:ENST00000420428:exon7:c.C802G:p.L268V;	0.582624972254911	0.434
18	34853126	G	T	18	37273163	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon7:c.C772A:p.L258M;CELF4:NM_020180:exon7:c.C802A:p.L268M;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon7:c.C772A:p.L258M;ENSG00000101489:ENST00000588597:exon7:c.C769A:p.L257M;ENSG00000101489:ENST00000601019:exon7:c.C796A:p.L266M;ENSG00000101489:ENST00000591282:exon7:c.C802A:p.L268M;ENSG00000101489:ENST00000591287:exon7:c.C799A:p.L267M;ENSG00000101489:ENST00000601392:exon7:c.C772A:p.L258M;ENSG00000101489:ENST00000589229:exon7:c.C433A:p.L145M;ENSG00000101489:ENST00000603232:exon7:c.C799A:p.L267M;ENSG00000101489:ENST00000587819:exon7:c.C400A:p.L134M;ENSG00000101489:ENST00000420428:exon7:c.C802A:p.L268M;	0.928420786376721	0.696
18	34853127	C	A	18	37273164	y	y	splicing	CELF4(NM_001025089:exon8:c.772-1G>T;NM_020180:exon8:c.802-1G>T)	.	.	splicing	ENSG00000101489(ENST00000420428:exon8:c.802-1G>T;ENST00000591287:exon8:c.799-1G>T;ENST00000334919:exon8:c.772-1G>T;ENST00000601019:exon8:c.796-1G>T;ENST00000603232:exon8:c.799-1G>T;ENST00000591282:exon8:c.802-1G>T;ENST00000588597:exon8:c.769-1G>T;ENST00000601392:exon8:c.772-1G>T;ENST00000587819:exon8:c.400-1G>T;ENST00000589229:exon8:c.433-1G>T)	.	.	0.999988630721284	0.94
18	34853127	C	G	18	37273164	y	y	splicing	CELF4(NM_001025089:exon8:c.772-1G>C;NM_020180:exon8:c.802-1G>C)	.	.	splicing	ENSG00000101489(ENST00000420428:exon8:c.802-1G>C;ENST00000591287:exon8:c.799-1G>C;ENST00000334919:exon8:c.772-1G>C;ENST00000601019:exon8:c.796-1G>C;ENST00000603232:exon8:c.799-1G>C;ENST00000591282:exon8:c.802-1G>C;ENST00000588597:exon8:c.769-1G>C;ENST00000601392:exon8:c.772-1G>C;ENST00000587819:exon8:c.400-1G>C;ENST00000589229:exon8:c.433-1G>C)	.	.	0.999988630721284	0.94
18	34853127	C	T	18	37273164	y	y	splicing	CELF4(NM_001025089:exon8:c.772-1G>A;NM_020180:exon8:c.802-1G>A)	.	.	splicing	ENSG00000101489(ENST00000420428:exon8:c.802-1G>A;ENST00000591287:exon8:c.799-1G>A;ENST00000334919:exon8:c.772-1G>A;ENST00000601019:exon8:c.796-1G>A;ENST00000603232:exon8:c.799-1G>A;ENST00000591282:exon8:c.802-1G>A;ENST00000588597:exon8:c.769-1G>A;ENST00000601392:exon8:c.772-1G>A;ENST00000587819:exon8:c.400-1G>A;ENST00000589229:exon8:c.433-1G>A)	.	.	0.999988630721284	0.94
18	34853128	T	A	18	37273165	y	y	splicing	CELF4(NM_001025089:exon8:c.772-2A>T;NM_020180:exon8:c.802-2A>T)	.	.	splicing	ENSG00000101489(ENST00000420428:exon8:c.802-2A>T;ENST00000591287:exon8:c.799-2A>T;ENST00000334919:exon8:c.772-2A>T;ENST00000601019:exon8:c.796-2A>T;ENST00000603232:exon8:c.799-2A>T;ENST00000591282:exon8:c.802-2A>T;ENST00000588597:exon8:c.769-2A>T;ENST00000601392:exon8:c.772-2A>T;ENST00000587819:exon8:c.400-2A>T;ENST00000589229:exon8:c.433-2A>T)	.	.	0.999990764389106	0.942
18	34853128	T	C	18	37273165	y	y	splicing	CELF4(NM_001025089:exon8:c.772-2A>G;NM_020180:exon8:c.802-2A>G)	.	.	splicing	ENSG00000101489(ENST00000420428:exon8:c.802-2A>G;ENST00000591287:exon8:c.799-2A>G;ENST00000334919:exon8:c.772-2A>G;ENST00000601019:exon8:c.796-2A>G;ENST00000603232:exon8:c.799-2A>G;ENST00000591282:exon8:c.802-2A>G;ENST00000588597:exon8:c.769-2A>G;ENST00000601392:exon8:c.772-2A>G;ENST00000587819:exon8:c.400-2A>G;ENST00000589229:exon8:c.433-2A>G)	.	.	0.999990764389106	0.942
18	34853128	T	G	18	37273165	y	y	splicing	CELF4(NM_001025089:exon8:c.772-2A>C;NM_020180:exon8:c.802-2A>C)	.	.	splicing	ENSG00000101489(ENST00000420428:exon8:c.802-2A>C;ENST00000591287:exon8:c.799-2A>C;ENST00000334919:exon8:c.772-2A>C;ENST00000601019:exon8:c.796-2A>C;ENST00000603232:exon8:c.799-2A>C;ENST00000591282:exon8:c.802-2A>C;ENST00000588597:exon8:c.769-2A>C;ENST00000601392:exon8:c.772-2A>C;ENST00000587819:exon8:c.400-2A>C;ENST00000589229:exon8:c.433-2A>C)	.	.	0.999990764389106	0.942
18	34853129	G	A	18	37273166	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.909466667063356	0.346
18	34853129	G	C	18	37273166	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.999987517778443	0.994
18	34853129	G	T	18	37273166	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.999615526736077	0.94
18	34853130	G	A	18	37273167	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.0330081791066313	0.148
18	34853130	G	C	18	37273167	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.00397795722491109	0.1
18	34853130	G	T	18	37273167	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.00477250516003545	0.108
18	34853131	G	A	18	37273168	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.00144966360137862	0.03
18	34853131	G	C	18	37273168	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.408591928988212	0.398
18	34853131	G	T	18	37273168	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.60053245761464	0.414
18	34853132	G	A	18	37273169	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.00198600445811088	0.064
18	34853132	G	C	18	37273169	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.660636691658212	0.49
18	34853132	G	T	18	37273169	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.751247401001551	0.504
18	34853133	C	A	18	37273170	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.112044952831691	0.332
18	34853133	C	G	18	37273170	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.0806150888234958	0.216
18	34853133	C	T	18	37273170	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.712200131909162	0.606
18	34853134	A	C	18	37273171	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.236232906036128	0.366
18	34853134	A	G	18	37273171	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.00573000463139731	0.18
18	34853134	A	T	18	37273171	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.999921684065215	0.986
18	34853135	G	A	18	37273172	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.018242004773996	0.238
18	34853135	G	C	18	37273172	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.0735920663542112	0.18
18	34853135	G	T	18	37273172	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.147520918286856	0.22
18	34853136	A	C	18	37273173	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.996186454056387	0.77
18	34853136	A	G	18	37273173	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.738449274440343	0.456
18	34853136	A	T	18	37273173	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.994627908593006	0.778
18	34853137	G	A	18	37273174	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	1.39672755163259E-5	0.086
18	34853137	G	C	18	37273174	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	1.93730154942258E-4	0.108
18	34853137	G	T	18	37273174	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	3.93314588676805E-4	0.196
18	34853138	G	A	18	37273175	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.104289561828876	0.424
18	34853138	G	C	18	37273175	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.0739567780649721	0.252
18	34853138	G	T	18	37273175	y	y	intronic	CELF4	.	.	UTR3	ENSG00000101489	.	.	0.0626141302460796	0.238
18	34854266	C	A	18	37274303	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	6.76402601189407E-5	0.0
18	34854266	C	G	18	37274303	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	8.48569978327725E-5	0.0
18	34854266	C	T	18	37274303	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	9.05573871908296E-5	0.0
18	34854267	C	A	18	37274304	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	6.34460905457576E-4	0.084
18	34854267	C	G	18	37274304	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	9.16811292047004E-4	0.026
18	34854267	C	T	18	37274304	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	7.89987717495584E-4	0.024
18	34854268	A	C	18	37274305	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.977695080966867	0.888
18	34854268	A	G	18	37274305	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.981721552493851	0.894
18	34854268	A	T	18	37274305	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.990516764139652	0.828
18	34854269	C	A	18	37274306	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.999956557672668	1.0
18	34854269	C	G	18	37274306	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.999979669128783	0.988
18	34854269	C	T	18	37274306	y	n	intronic	CELF4	.	.	ncRNA_UTR3	ENSG00000101489	.	.	0.999967018685523	1.0
18	34854270	T	A	18	37274307	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	stoploss SNV	ENSG00000101489:ENST00000590112:exon4:c.A753T:p.X251Y;	0.99429386287058	0.856
18	34854270	T	C	18	37274307	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A753G:p.X251X;	0.995511109880743	0.918
18	34854270	T	G	18	37274307	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	stoploss SNV	ENSG00000101489:ENST00000590112:exon4:c.A753C:p.X251Y;	0.995665274760629	0.864
18	34854271	T	A	18	37274308	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	stoploss SNV	ENSG00000101489:ENST00000590112:exon4:c.A752T:p.X251L;	0.999820772566401	0.966
18	34854271	T	C	18	37274308	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A752G:p.X251X;	0.924717604690963	0.528
18	34854271	T	G	18	37274308	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	stoploss SNV	ENSG00000101489:ENST00000590112:exon4:c.A752C:p.X251S;	0.999796815412516	0.954
18	34854272	A	C	18	37274309	y	n	splicing	CELF4(NM_001025089:exon7:c.771+2T>G;NM_020180:exon7:c.801+2T>G;NM_001025088:exon7:c.798+2T>G;NM_001025087:exon7:c.801+2T>G)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.801+2T>G;ENST00000420428:exon7:c.801+2T>G;ENST00000591287:exon7:c.798+2T>G;ENST00000334919:exon7:c.771+2T>G;ENST00000361795:exon7:c.798+2T>G;ENST00000591282:exon7:c.801+2T>G;ENST00000588597:exon7:c.768+2T>G;ENST00000601392:exon7:c.771+2T>G;ENST00000587819:exon7:c.399+2T>G;ENST00000589229:exon7:c.432+2T>G)	stoploss SNV	ENSG00000101489:ENST00000590112:exon4:c.T751G:p.X251E;	0.999989917668626	0.928
18	34854272	A	G	18	37274309	y	n	splicing	CELF4(NM_001025089:exon7:c.771+2T>C;NM_020180:exon7:c.801+2T>C;NM_001025088:exon7:c.798+2T>C;NM_001025087:exon7:c.801+2T>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.801+2T>C;ENST00000420428:exon7:c.801+2T>C;ENST00000591287:exon7:c.798+2T>C;ENST00000334919:exon7:c.771+2T>C;ENST00000361795:exon7:c.798+2T>C;ENST00000591282:exon7:c.801+2T>C;ENST00000588597:exon7:c.768+2T>C;ENST00000601392:exon7:c.771+2T>C;ENST00000587819:exon7:c.399+2T>C;ENST00000589229:exon7:c.432+2T>C)	stoploss SNV	ENSG00000101489:ENST00000590112:exon4:c.T751C:p.X251Q;	0.991781671885672	0.596
18	34854272	A	T	18	37274309	y	n	splicing	CELF4(NM_001025089:exon7:c.771+2T>A;NM_020180:exon7:c.801+2T>A;NM_001025088:exon7:c.798+2T>A;NM_001025087:exon7:c.801+2T>A)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.801+2T>A;ENST00000420428:exon7:c.801+2T>A;ENST00000591287:exon7:c.798+2T>A;ENST00000334919:exon7:c.771+2T>A;ENST00000361795:exon7:c.798+2T>A;ENST00000591282:exon7:c.801+2T>A;ENST00000588597:exon7:c.768+2T>A;ENST00000601392:exon7:c.771+2T>A;ENST00000587819:exon7:c.399+2T>A;ENST00000589229:exon7:c.432+2T>A)	stoploss SNV	ENSG00000101489:ENST00000590112:exon4:c.T751A:p.X251K;	0.999989917668626	0.928
18	34854273	C	A	18	37274310	y	n	splicing	CELF4(NM_001025089:exon7:c.771+1G>T;NM_020180:exon7:c.801+1G>T;NM_001025088:exon7:c.798+1G>T;NM_001025087:exon7:c.801+1G>T)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.801+1G>T;ENST00000420428:exon7:c.801+1G>T;ENST00000591287:exon7:c.798+1G>T;ENST00000334919:exon7:c.771+1G>T;ENST00000361795:exon7:c.798+1G>T;ENST00000591282:exon7:c.801+1G>T;ENST00000588597:exon7:c.768+1G>T;ENST00000601392:exon7:c.771+1G>T;ENST00000587819:exon7:c.399+1G>T;ENST00000589229:exon7:c.432+1G>T)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G750T:p.Q250H;	0.999986675681007	0.934
18	34854273	C	G	18	37274310	y	n	splicing	CELF4(NM_001025089:exon7:c.771+1G>C;NM_020180:exon7:c.801+1G>C;NM_001025088:exon7:c.798+1G>C;NM_001025087:exon7:c.801+1G>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.801+1G>C;ENST00000420428:exon7:c.801+1G>C;ENST00000591287:exon7:c.798+1G>C;ENST00000334919:exon7:c.771+1G>C;ENST00000361795:exon7:c.798+1G>C;ENST00000591282:exon7:c.801+1G>C;ENST00000588597:exon7:c.768+1G>C;ENST00000601392:exon7:c.771+1G>C;ENST00000587819:exon7:c.399+1G>C;ENST00000589229:exon7:c.432+1G>C)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G750C:p.Q250H;	0.999986675681007	0.934
18	34854273	C	T	18	37274310	y	n	splicing	CELF4(NM_001025089:exon7:c.771+1G>A;NM_020180:exon7:c.801+1G>A;NM_001025088:exon7:c.798+1G>A;NM_001025087:exon7:c.801+1G>A)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.801+1G>A;ENST00000420428:exon7:c.801+1G>A;ENST00000591287:exon7:c.798+1G>A;ENST00000334919:exon7:c.771+1G>A;ENST00000361795:exon7:c.798+1G>A;ENST00000591282:exon7:c.801+1G>A;ENST00000588597:exon7:c.768+1G>A;ENST00000601392:exon7:c.771+1G>A;ENST00000587819:exon7:c.399+1G>A;ENST00000589229:exon7:c.432+1G>A)	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G750A:p.Q250Q;	0.999986675681007	0.934
18	34854274	T	A	18	37274311	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon6:c.A771T:p.A257A;CELF4:NM_001025087:exon6:c.A801T:p.A267A;CELF4:NM_001025088:exon6:c.A798T:p.A266A;CELF4:NM_020180:exon6:c.A801T:p.A267A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A749T:p.Q250L;	0.324875389354579	0.464
18	34854274	T	C	18	37274311	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon6:c.A771G:p.A257A;CELF4:NM_001025087:exon6:c.A801G:p.A267A;CELF4:NM_001025088:exon6:c.A798G:p.A266A;CELF4:NM_020180:exon6:c.A801G:p.A267A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A749G:p.Q250R;	0.0873658995934937	0.258
18	34854274	T	G	18	37274311	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon6:c.A771C:p.A257A;CELF4:NM_001025087:exon6:c.A801C:p.A267A;CELF4:NM_001025088:exon6:c.A798C:p.A266A;CELF4:NM_020180:exon6:c.A801C:p.A267A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A749C:p.Q250P;	0.261314193602582	0.66
18	34854275	G	A	18	37274312	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.C770T:p.A257V;CELF4:NM_001025087:exon6:c.C800T:p.A267V;CELF4:NM_001025088:exon6:c.C797T:p.A266V;CELF4:NM_020180:exon6:c.C800T:p.A267V;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000601019:exon7:c.795+2C>T;ENST00000603232:exon7:c.798+2C>T)	stopgain SNV	ENSG00000101489:ENST00000590112:exon4:c.C748T:p.Q250X;	0.989966173414802	0.884
18	34854275	G	C	18	37274312	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.C770G:p.A257G;CELF4:NM_001025087:exon6:c.C800G:p.A267G;CELF4:NM_001025088:exon6:c.C797G:p.A266G;CELF4:NM_020180:exon6:c.C800G:p.A267G;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000601019:exon7:c.795+2C>G;ENST00000603232:exon7:c.798+2C>G)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.C770G:p.A257G;ENSG00000101489:ENST00000588597:exon6:c.C767G:p.A256G;ENSG00000101489:ENST00000591282:exon6:c.C800G:p.A267G;ENSG00000101489:ENST00000412753:exon6:c.C800G:p.A267G;ENSG00000101489:ENST00000591287:exon6:c.C797G:p.A266G;ENSG00000101489:ENST00000601392:exon6:c.C770G:p.A257G;ENSG00000101489:ENST00000590112:exon4:c.C748G:p.Q250E;ENSG00000101489:ENST00000589229:exon6:c.C431G:p.A144G;ENSG00000101489:ENST00000587819:exon6:c.C398G:p.A133G;ENSG00000101489:ENST00000420428:exon6:c.C800G:p.A267G;ENSG00000101489:ENST00000361795:exon6:c.C797G:p.A266G;	0.987198826043668	0.862
18	34854275	G	T	18	37274312	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.C770A:p.A257E;CELF4:NM_001025087:exon6:c.C800A:p.A267E;CELF4:NM_001025088:exon6:c.C797A:p.A266E;CELF4:NM_020180:exon6:c.C800A:p.A267E;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000601019:exon7:c.795+2C>A;ENST00000603232:exon7:c.798+2C>A)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.C770A:p.A257E;ENSG00000101489:ENST00000588597:exon6:c.C767A:p.A256E;ENSG00000101489:ENST00000591282:exon6:c.C800A:p.A267E;ENSG00000101489:ENST00000412753:exon6:c.C800A:p.A267E;ENSG00000101489:ENST00000591287:exon6:c.C797A:p.A266E;ENSG00000101489:ENST00000601392:exon6:c.C770A:p.A257E;ENSG00000101489:ENST00000590112:exon4:c.C748A:p.Q250K;ENSG00000101489:ENST00000589229:exon6:c.C431A:p.A144E;ENSG00000101489:ENST00000587819:exon6:c.C398A:p.A133E;ENSG00000101489:ENST00000420428:exon6:c.C800A:p.A267E;ENSG00000101489:ENST00000361795:exon6:c.C797A:p.A266E;	0.937668354161952	0.722
18	34854276	C	A	18	37274313	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.G769T:p.A257S;CELF4:NM_001025087:exon6:c.G799T:p.A267S;CELF4:NM_001025088:exon6:c.G796T:p.A266S;CELF4:NM_020180:exon6:c.G799T:p.A267S;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000601019:exon7:c.795+1G>T;ENST00000603232:exon7:c.798+1G>T)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.G769T:p.A257S;ENSG00000101489:ENST00000588597:exon6:c.G766T:p.A256S;ENSG00000101489:ENST00000591282:exon6:c.G799T:p.A267S;ENSG00000101489:ENST00000412753:exon6:c.G799T:p.A267S;ENSG00000101489:ENST00000591287:exon6:c.G796T:p.A266S;ENSG00000101489:ENST00000601392:exon6:c.G769T:p.A257S;ENSG00000101489:ENST00000590112:exon4:c.G747T:p.R249S;ENSG00000101489:ENST00000589229:exon6:c.G430T:p.A144S;ENSG00000101489:ENST00000587819:exon6:c.G397T:p.A133S;ENSG00000101489:ENST00000420428:exon6:c.G799T:p.A267S;ENSG00000101489:ENST00000361795:exon6:c.G796T:p.A266S;	0.983333219686416	0.84
18	34854276	C	G	18	37274313	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.G769C:p.A257P;CELF4:NM_001025087:exon6:c.G799C:p.A267P;CELF4:NM_001025088:exon6:c.G796C:p.A266P;CELF4:NM_020180:exon6:c.G799C:p.A267P;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000601019:exon7:c.795+1G>C;ENST00000603232:exon7:c.798+1G>C)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.G769C:p.A257P;ENSG00000101489:ENST00000588597:exon6:c.G766C:p.A256P;ENSG00000101489:ENST00000591282:exon6:c.G799C:p.A267P;ENSG00000101489:ENST00000412753:exon6:c.G799C:p.A267P;ENSG00000101489:ENST00000591287:exon6:c.G796C:p.A266P;ENSG00000101489:ENST00000601392:exon6:c.G769C:p.A257P;ENSG00000101489:ENST00000590112:exon4:c.G747C:p.R249S;ENSG00000101489:ENST00000589229:exon6:c.G430C:p.A144P;ENSG00000101489:ENST00000587819:exon6:c.G397C:p.A133P;ENSG00000101489:ENST00000420428:exon6:c.G799C:p.A267P;ENSG00000101489:ENST00000361795:exon6:c.G796C:p.A266P;	0.929066619171166	0.764
18	34854276	C	T	18	37274313	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.G769A:p.A257T;CELF4:NM_001025087:exon6:c.G799A:p.A267T;CELF4:NM_001025088:exon6:c.G796A:p.A266T;CELF4:NM_020180:exon6:c.G799A:p.A267T;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000601019:exon7:c.795+1G>A;ENST00000603232:exon7:c.798+1G>A)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.G769A:p.A257T;ENSG00000101489:ENST00000588597:exon6:c.G766A:p.A256T;ENSG00000101489:ENST00000591282:exon6:c.G799A:p.A267T;ENSG00000101489:ENST00000412753:exon6:c.G799A:p.A267T;ENSG00000101489:ENST00000591287:exon6:c.G796A:p.A266T;ENSG00000101489:ENST00000601392:exon6:c.G769A:p.A257T;ENSG00000101489:ENST00000589229:exon6:c.G430A:p.A144T;ENSG00000101489:ENST00000587819:exon6:c.G397A:p.A133T;ENSG00000101489:ENST00000420428:exon6:c.G799A:p.A267T;ENSG00000101489:ENST00000361795:exon6:c.G796A:p.A266T;	0.945843849989626	0.814
18	34854416	C	A	18	37274453	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.G629T:p.G210V;CELF4:NM_001025087:exon6:c.G659T:p.G220V;CELF4:NM_001025088:exon6:c.G656T:p.G219V;CELF4:NM_020180:exon6:c.G659T:p.G220V;	exonic	ENSG00000101489	stopgain SNV	ENSG00000101489:ENST00000590112:exon4:c.G607T:p.E203X;	0.0790900763232651	0.36
18	34854416	C	G	18	37274453	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.G629C:p.G210A;CELF4:NM_001025087:exon6:c.G659C:p.G220A;CELF4:NM_001025088:exon6:c.G656C:p.G219A;CELF4:NM_020180:exon6:c.G659C:p.G220A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.G629C:p.G210A;ENSG00000101489:ENST00000588597:exon6:c.G626C:p.G209A;ENSG00000101489:ENST00000601019:exon6:c.G656C:p.G219A;ENSG00000101489:ENST00000591282:exon6:c.G659C:p.G220A;ENSG00000101489:ENST00000412753:exon6:c.G659C:p.G220A;ENSG00000101489:ENST00000591287:exon6:c.G656C:p.G219A;ENSG00000101489:ENST00000601392:exon6:c.G629C:p.G210A;ENSG00000101489:ENST00000590112:exon4:c.G607C:p.E203Q;ENSG00000101489:ENST00000589229:exon6:c.G290C:p.G97A;ENSG00000101489:ENST00000603232:exon6:c.G659C:p.G220A;ENSG00000101489:ENST00000587819:exon6:c.G257C:p.G86A;ENSG00000101489:ENST00000420428:exon6:c.G659C:p.G220A;ENSG00000101489:ENST00000361795:exon6:c.G656C:p.G219A;	0.0603966825514473	0.258
18	34854416	C	T	18	37274453	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.G629A:p.G210E;CELF4:NM_001025087:exon6:c.G659A:p.G220E;CELF4:NM_001025088:exon6:c.G656A:p.G219E;CELF4:NM_020180:exon6:c.G659A:p.G220E;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.G629A:p.G210E;ENSG00000101489:ENST00000588597:exon6:c.G626A:p.G209E;ENSG00000101489:ENST00000601019:exon6:c.G656A:p.G219E;ENSG00000101489:ENST00000591282:exon6:c.G659A:p.G220E;ENSG00000101489:ENST00000412753:exon6:c.G659A:p.G220E;ENSG00000101489:ENST00000591287:exon6:c.G656A:p.G219E;ENSG00000101489:ENST00000601392:exon6:c.G629A:p.G210E;ENSG00000101489:ENST00000590112:exon4:c.G607A:p.E203K;ENSG00000101489:ENST00000589229:exon6:c.G290A:p.G97E;ENSG00000101489:ENST00000603232:exon6:c.G659A:p.G220E;ENSG00000101489:ENST00000587819:exon6:c.G257A:p.G86E;ENSG00000101489:ENST00000420428:exon6:c.G659A:p.G220E;ENSG00000101489:ENST00000361795:exon6:c.G656A:p.G219E;	0.0762028319241791	0.364
18	34854417	C	A	18	37274454	y	n	exonic	CELF4	stopgain SNV	CELF4:NM_001025089:exon6:c.G628T:p.G210X;CELF4:NM_001025087:exon6:c.G658T:p.G220X;CELF4:NM_001025088:exon6:c.G655T:p.G219X;CELF4:NM_020180:exon6:c.G658T:p.G220X;	exonic	ENSG00000101489	stopgain SNV	ENSG00000101489:ENST00000334919:exon6:c.G628T:p.G210X;ENSG00000101489:ENST00000588597:exon6:c.G625T:p.G209X;ENSG00000101489:ENST00000601019:exon6:c.G655T:p.G219X;ENSG00000101489:ENST00000591282:exon6:c.G658T:p.G220X;ENSG00000101489:ENST00000412753:exon6:c.G658T:p.G220X;ENSG00000101489:ENST00000591287:exon6:c.G655T:p.G219X;ENSG00000101489:ENST00000601392:exon6:c.G628T:p.G210X;ENSG00000101489:ENST00000589229:exon6:c.G289T:p.G97X;ENSG00000101489:ENST00000603232:exon6:c.G658T:p.G220X;ENSG00000101489:ENST00000587819:exon6:c.G256T:p.G86X;ENSG00000101489:ENST00000420428:exon6:c.G658T:p.G220X;ENSG00000101489:ENST00000361795:exon6:c.G655T:p.G219X;	0.999934150614341	0.988
18	34854417	C	G	18	37274454	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.G628C:p.G210R;CELF4:NM_001025087:exon6:c.G658C:p.G220R;CELF4:NM_001025088:exon6:c.G655C:p.G219R;CELF4:NM_020180:exon6:c.G658C:p.G220R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.G628C:p.G210R;ENSG00000101489:ENST00000588597:exon6:c.G625C:p.G209R;ENSG00000101489:ENST00000601019:exon6:c.G655C:p.G219R;ENSG00000101489:ENST00000591282:exon6:c.G658C:p.G220R;ENSG00000101489:ENST00000412753:exon6:c.G658C:p.G220R;ENSG00000101489:ENST00000591287:exon6:c.G655C:p.G219R;ENSG00000101489:ENST00000601392:exon6:c.G628C:p.G210R;ENSG00000101489:ENST00000590112:exon4:c.G606C:p.R202S;ENSG00000101489:ENST00000589229:exon6:c.G289C:p.G97R;ENSG00000101489:ENST00000603232:exon6:c.G658C:p.G220R;ENSG00000101489:ENST00000587819:exon6:c.G256C:p.G86R;ENSG00000101489:ENST00000420428:exon6:c.G658C:p.G220R;ENSG00000101489:ENST00000361795:exon6:c.G655C:p.G219R;	0.999810442826303	0.964
18	34854417	C	T	18	37274454	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon6:c.G628A:p.G210R;CELF4:NM_001025087:exon6:c.G658A:p.G220R;CELF4:NM_001025088:exon6:c.G655A:p.G219R;CELF4:NM_020180:exon6:c.G658A:p.G220R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon6:c.G628A:p.G210R;ENSG00000101489:ENST00000588597:exon6:c.G625A:p.G209R;ENSG00000101489:ENST00000601019:exon6:c.G655A:p.G219R;ENSG00000101489:ENST00000591282:exon6:c.G658A:p.G220R;ENSG00000101489:ENST00000412753:exon6:c.G658A:p.G220R;ENSG00000101489:ENST00000591287:exon6:c.G655A:p.G219R;ENSG00000101489:ENST00000601392:exon6:c.G628A:p.G210R;ENSG00000101489:ENST00000589229:exon6:c.G289A:p.G97R;ENSG00000101489:ENST00000603232:exon6:c.G658A:p.G220R;ENSG00000101489:ENST00000587819:exon6:c.G256A:p.G86R;ENSG00000101489:ENST00000420428:exon6:c.G658A:p.G220R;ENSG00000101489:ENST00000361795:exon6:c.G655A:p.G219R;	0.999827211719134	0.95
18	34854418	C	A	18	37274455	y	n	splicing	CELF4(NM_001025089:exon7:c.628-1G>T;NM_020180:exon7:c.658-1G>T;NM_001025088:exon7:c.655-1G>T;NM_001025087:exon7:c.658-1G>T)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.658-1G>T;ENST00000420428:exon7:c.658-1G>T;ENST00000591287:exon7:c.655-1G>T;ENST00000334919:exon7:c.628-1G>T;ENST00000361795:exon7:c.655-1G>T;ENST00000601019:exon7:c.655-1G>T;ENST00000603232:exon7:c.658-1G>T;ENST00000591282:exon7:c.658-1G>T;ENST00000588597:exon7:c.625-1G>T;ENST00000601392:exon7:c.628-1G>T;ENST00000587819:exon7:c.256-1G>T;ENST00000589229:exon7:c.289-1G>T)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G605T:p.R202M;	0.999984967332678	0.948
18	34854418	C	G	18	37274455	y	n	splicing	CELF4(NM_001025089:exon7:c.628-1G>C;NM_020180:exon7:c.658-1G>C;NM_001025088:exon7:c.655-1G>C;NM_001025087:exon7:c.658-1G>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.658-1G>C;ENST00000420428:exon7:c.658-1G>C;ENST00000591287:exon7:c.655-1G>C;ENST00000334919:exon7:c.628-1G>C;ENST00000361795:exon7:c.655-1G>C;ENST00000601019:exon7:c.655-1G>C;ENST00000603232:exon7:c.658-1G>C;ENST00000591282:exon7:c.658-1G>C;ENST00000588597:exon7:c.625-1G>C;ENST00000601392:exon7:c.628-1G>C;ENST00000587819:exon7:c.256-1G>C;ENST00000589229:exon7:c.289-1G>C)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G605C:p.R202T;	0.999984967332678	0.948
18	34854418	C	T	18	37274455	y	n	splicing	CELF4(NM_001025089:exon7:c.628-1G>A;NM_020180:exon7:c.658-1G>A;NM_001025088:exon7:c.655-1G>A;NM_001025087:exon7:c.658-1G>A)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.658-1G>A;ENST00000420428:exon7:c.658-1G>A;ENST00000591287:exon7:c.655-1G>A;ENST00000334919:exon7:c.628-1G>A;ENST00000361795:exon7:c.655-1G>A;ENST00000601019:exon7:c.655-1G>A;ENST00000603232:exon7:c.658-1G>A;ENST00000591282:exon7:c.658-1G>A;ENST00000588597:exon7:c.625-1G>A;ENST00000601392:exon7:c.628-1G>A;ENST00000587819:exon7:c.256-1G>A;ENST00000589229:exon7:c.289-1G>A)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G605A:p.R202K;	0.999984967332678	0.948
18	34854419	T	A	18	37274456	y	n	splicing	CELF4(NM_001025089:exon7:c.628-2A>T;NM_020180:exon7:c.658-2A>T;NM_001025088:exon7:c.655-2A>T;NM_001025087:exon7:c.658-2A>T)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.658-2A>T;ENST00000420428:exon7:c.658-2A>T;ENST00000591287:exon7:c.655-2A>T;ENST00000334919:exon7:c.628-2A>T;ENST00000361795:exon7:c.655-2A>T;ENST00000601019:exon7:c.655-2A>T;ENST00000603232:exon7:c.658-2A>T;ENST00000591282:exon7:c.658-2A>T;ENST00000588597:exon7:c.625-2A>T;ENST00000601392:exon7:c.628-2A>T;ENST00000587819:exon7:c.256-2A>T;ENST00000589229:exon7:c.289-2A>T)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A604T:p.R202W;	0.999988624979899	0.938
18	34854419	T	C	18	37274456	y	n	splicing	CELF4(NM_001025089:exon7:c.628-2A>G;NM_020180:exon7:c.658-2A>G;NM_001025088:exon7:c.655-2A>G;NM_001025087:exon7:c.658-2A>G)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.658-2A>G;ENST00000420428:exon7:c.658-2A>G;ENST00000591287:exon7:c.655-2A>G;ENST00000334919:exon7:c.628-2A>G;ENST00000361795:exon7:c.655-2A>G;ENST00000601019:exon7:c.655-2A>G;ENST00000603232:exon7:c.658-2A>G;ENST00000591282:exon7:c.658-2A>G;ENST00000588597:exon7:c.625-2A>G;ENST00000601392:exon7:c.628-2A>G;ENST00000587819:exon7:c.256-2A>G;ENST00000589229:exon7:c.289-2A>G)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A604G:p.R202G;	0.999988624979899	0.938
18	34854419	T	G	18	37274456	y	n	splicing	CELF4(NM_001025089:exon7:c.628-2A>C;NM_020180:exon7:c.658-2A>C;NM_001025088:exon7:c.655-2A>C;NM_001025087:exon7:c.658-2A>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon7:c.658-2A>C;ENST00000420428:exon7:c.658-2A>C;ENST00000591287:exon7:c.655-2A>C;ENST00000334919:exon7:c.628-2A>C;ENST00000361795:exon7:c.655-2A>C;ENST00000601019:exon7:c.655-2A>C;ENST00000603232:exon7:c.658-2A>C;ENST00000591282:exon7:c.658-2A>C;ENST00000588597:exon7:c.625-2A>C;ENST00000601392:exon7:c.628-2A>C;ENST00000587819:exon7:c.256-2A>C;ENST00000589229:exon7:c.289-2A>C)	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A604C:p.R202R;	0.999988624979899	0.938
18	34854420	G	A	18	37274457	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C603T:p.R201R;	0.00518421633371403	0.114
18	34854420	G	C	18	37274457	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C603G:p.R201R;	0.999967938900016	0.948
18	34854420	G	T	18	37274457	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C603A:p.R201R;	0.998587424726281	0.852
18	34854421	C	A	18	37274458	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G602T:p.R201L;	1.18466742318078E-4	0.014
18	34854421	C	G	18	37274458	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G602C:p.R201P;	3.48875344989515E-5	0.008
18	34854421	C	T	18	37274458	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G602A:p.R201H;	1.57973485783923E-4	0.022
18	34854422	G	A	18	37274459	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C601T:p.R201C;	4.05885499291146E-5	0.094
18	34854422	G	C	18	37274459	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C601G:p.R201G;	0.00739120606558093	0.2
18	34854422	G	T	18	37274459	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C601A:p.R201S;	0.999908753710348	0.956
18	34854423	G	A	18	37274460	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C600T:p.G200G;	0.00419819626814153	0.08
18	34854423	G	C	18	37274460	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C600G:p.G200G;	0.363926290112884	0.594
18	34854423	G	T	18	37274460	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C600A:p.G200G;	0.925264350129149	0.728
18	34854424	C	A	18	37274461	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G599T:p.G200V;	4.64860346468072E-4	0.026
18	34854424	C	G	18	37274461	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G599C:p.G200A;	4.64860346468072E-4	0.028
18	34854424	C	T	18	37274461	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G599A:p.G200D;	0.00158550497343509	0.008
18	34854425	C	A	18	37274462	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G598T:p.G200C;	1.27439373326563E-4	0.042
18	34854425	C	G	18	37274462	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G598C:p.G200R;	1.71380122706977E-4	0.012
18	34854425	C	T	18	37274462	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G598A:p.G200S;	0.99964305271846	0.964
18	34854426	G	A	18	37274463	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C597T:p.P199P;	6.7906766166108E-6	0.018
18	34854426	G	C	18	37274463	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C597G:p.P199P;	5.7631573756065E-4	0.228
18	34854426	G	T	18	37274463	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C597A:p.P199P;	0.999908793124661	0.882
18	34854427	G	A	18	37274464	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C596T:p.P199L;	8.13852910817841E-4	0.062
18	34854427	G	C	18	37274464	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C596G:p.P199R;	0.126801714355137	0.22
18	34854427	G	T	18	37274464	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C596A:p.P199H;	0.318881007795147	0.27
18	34854428	G	A	18	37274465	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C595T:p.P199S;	4.32396991852212E-5	0.0
18	34854428	G	C	18	37274465	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C595G:p.P199A;	0.00243378122068105	0.07
18	34854428	G	T	18	37274465	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C595A:p.P199T;	0.00339627728551259	0.114
18	34854429	G	A	18	37274466	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C594T:p.R198R;	2.27577414768631E-4	0.004
18	34854429	G	C	18	37274466	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C594G:p.R198R;	0.00334375858626107	0.09
18	34854429	G	T	18	37274466	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C594A:p.R198R;	0.00610442428685321	0.14
18	34854760	G	A	18	37274797	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C263T:p.A88V;	1.05923468377003E-4	0.012
18	34854760	G	C	18	37274797	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C263G:p.A88G;	7.32838984029637E-5	0.016
18	34854760	G	T	18	37274797	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.C263A:p.A88D;	1.05923468377003E-4	0.01
18	34854761	C	A	18	37274798	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G262T:p.A88S;	0.0163491885808601	0.048
18	34854761	C	G	18	37274798	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G262C:p.A88P;	0.0112663011885867	0.04
18	34854761	C	T	18	37274798	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G262A:p.A88T;	0.0259736154827362	0.07
18	34854762	A	C	18	37274799	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.T261G:p.S87R;	0.820162069245861	0.576
18	34854762	A	G	18	37274799	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.T261C:p.S87S;	0.945255457477272	0.718
18	34854762	A	T	18	37274799	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.T261A:p.S87R;	0.948240006749104	0.698
18	34854763	C	A	18	37274800	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G260T:p.S87I;	0.999802372788112	0.766
18	34854763	C	G	18	37274800	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G260C:p.S87T;	0.998354486602385	0.964
18	34854763	C	T	18	37274800	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G260A:p.S87N;	0.999135559538761	0.912
18	34854764	T	A	18	37274801	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A259T:p.S87C;	0.998910811087104	0.874
18	34854764	T	C	18	37274801	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A259G:p.S87G;	0.996345464968987	0.898
18	34854764	T	G	18	37274801	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.A259C:p.S87R;	0.995618321242529	0.87
18	34854765	C	A	18	37274802	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G258T:p.V86V;	0.980033398797365	0.782
18	34854765	C	G	18	37274802	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G258C:p.V86V;	0.998845467162815	0.902
18	34854765	C	T	18	37274802	y	n	intronic	CELF4	.	.	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G258A:p.V86V;	0.0769104033985311	0.388
18	34854766	A	C	18	37274803	y	n	splicing	CELF4(NM_001025089:exon6:c.627+2T>G;NM_020180:exon6:c.657+2T>G;NM_001025088:exon6:c.654+2T>G;NM_001025087:exon6:c.657+2T>G)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon6:c.657+2T>G;ENST00000420428:exon6:c.657+2T>G;ENST00000591287:exon6:c.654+2T>G;ENST00000334919:exon6:c.627+2T>G;ENST00000361795:exon6:c.654+2T>G;ENST00000601019:exon6:c.654+2T>G;ENST00000603232:exon6:c.657+2T>G;ENST00000591282:exon6:c.657+2T>G;ENST00000588597:exon6:c.624+2T>G;ENST00000601392:exon6:c.627+2T>G;ENST00000587819:exon6:c.255+2T>G;ENST00000589229:exon6:c.288+2T>G)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.T257G:p.V86G;	0.999992752818502	0.928
18	34854766	A	G	18	37274803	y	n	splicing	CELF4(NM_001025089:exon6:c.627+2T>C;NM_020180:exon6:c.657+2T>C;NM_001025088:exon6:c.654+2T>C;NM_001025087:exon6:c.657+2T>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon6:c.657+2T>C;ENST00000420428:exon6:c.657+2T>C;ENST00000591287:exon6:c.654+2T>C;ENST00000334919:exon6:c.627+2T>C;ENST00000361795:exon6:c.654+2T>C;ENST00000601019:exon6:c.654+2T>C;ENST00000603232:exon6:c.657+2T>C;ENST00000591282:exon6:c.657+2T>C;ENST00000588597:exon6:c.624+2T>C;ENST00000601392:exon6:c.627+2T>C;ENST00000587819:exon6:c.255+2T>C;ENST00000589229:exon6:c.288+2T>C)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.T257C:p.V86A;	0.999929375071544	0.864
18	34854766	A	T	18	37274803	y	n	splicing	CELF4(NM_001025089:exon6:c.627+2T>A;NM_020180:exon6:c.657+2T>A;NM_001025088:exon6:c.654+2T>A;NM_001025087:exon6:c.657+2T>A)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon6:c.657+2T>A;ENST00000420428:exon6:c.657+2T>A;ENST00000591287:exon6:c.654+2T>A;ENST00000334919:exon6:c.627+2T>A;ENST00000361795:exon6:c.654+2T>A;ENST00000601019:exon6:c.654+2T>A;ENST00000603232:exon6:c.657+2T>A;ENST00000591282:exon6:c.657+2T>A;ENST00000588597:exon6:c.624+2T>A;ENST00000601392:exon6:c.627+2T>A;ENST00000587819:exon6:c.255+2T>A;ENST00000589229:exon6:c.288+2T>A)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.T257A:p.V86E;	0.999992752818502	0.928
18	34854767	C	A	18	37274804	y	n	splicing	CELF4(NM_001025089:exon6:c.627+1G>T;NM_020180:exon6:c.657+1G>T;NM_001025088:exon6:c.654+1G>T;NM_001025087:exon6:c.657+1G>T)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon6:c.657+1G>T;ENST00000420428:exon6:c.657+1G>T;ENST00000591287:exon6:c.654+1G>T;ENST00000334919:exon6:c.627+1G>T;ENST00000361795:exon6:c.654+1G>T;ENST00000601019:exon6:c.654+1G>T;ENST00000603232:exon6:c.657+1G>T;ENST00000591282:exon6:c.657+1G>T;ENST00000588597:exon6:c.624+1G>T;ENST00000601392:exon6:c.627+1G>T;ENST00000587819:exon6:c.255+1G>T;ENST00000589229:exon6:c.288+1G>T)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G256T:p.V86L;	0.999981760802075	0.938
18	34854767	C	G	18	37274804	y	n	splicing	CELF4(NM_001025089:exon6:c.627+1G>C;NM_020180:exon6:c.657+1G>C;NM_001025088:exon6:c.654+1G>C;NM_001025087:exon6:c.657+1G>C)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon6:c.657+1G>C;ENST00000420428:exon6:c.657+1G>C;ENST00000591287:exon6:c.654+1G>C;ENST00000334919:exon6:c.627+1G>C;ENST00000361795:exon6:c.654+1G>C;ENST00000601019:exon6:c.654+1G>C;ENST00000603232:exon6:c.657+1G>C;ENST00000591282:exon6:c.657+1G>C;ENST00000588597:exon6:c.624+1G>C;ENST00000601392:exon6:c.627+1G>C;ENST00000587819:exon6:c.255+1G>C;ENST00000589229:exon6:c.288+1G>C)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G256C:p.V86L;	0.999981760802075	0.938
18	34854767	C	T	18	37274804	y	n	splicing	CELF4(NM_001025089:exon6:c.627+1G>A;NM_020180:exon6:c.657+1G>A;NM_001025088:exon6:c.654+1G>A;NM_001025087:exon6:c.657+1G>A)	.	.	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000412753:exon6:c.657+1G>A;ENST00000420428:exon6:c.657+1G>A;ENST00000591287:exon6:c.654+1G>A;ENST00000334919:exon6:c.627+1G>A;ENST00000361795:exon6:c.654+1G>A;ENST00000601019:exon6:c.654+1G>A;ENST00000603232:exon6:c.657+1G>A;ENST00000591282:exon6:c.657+1G>A;ENST00000588597:exon6:c.624+1G>A;ENST00000601392:exon6:c.627+1G>A;ENST00000587819:exon6:c.255+1G>A;ENST00000589229:exon6:c.288+1G>A)	nonsynonymous SNV	ENSG00000101489:ENST00000590112:exon4:c.G256A:p.V86M;	0.999981760802075	0.938
18	34854768	C	A	18	37274805	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon5:c.G627T:p.P209P;CELF4:NM_001025087:exon5:c.G657T:p.P219P;CELF4:NM_001025088:exon5:c.G654T:p.P218P;CELF4:NM_020180:exon5:c.G657T:p.P219P;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G627T:p.P209P;ENSG00000101489:ENST00000588597:exon5:c.G624T:p.P208P;ENSG00000101489:ENST00000601019:exon5:c.G654T:p.P218P;ENSG00000101489:ENST00000591282:exon5:c.G657T:p.P219P;ENSG00000101489:ENST00000412753:exon5:c.G657T:p.P219P;ENSG00000101489:ENST00000591287:exon5:c.G654T:p.P218P;ENSG00000101489:ENST00000601392:exon5:c.G627T:p.P209P;ENSG00000101489:ENST00000590112:exon4:c.G255T:p.P85P;ENSG00000101489:ENST00000589229:exon5:c.G288T:p.P96P;ENSG00000101489:ENST00000603232:exon5:c.G657T:p.P219P;ENSG00000101489:ENST00000587819:exon5:c.G255T:p.P85P;ENSG00000101489:ENST00000420428:exon5:c.G657T:p.P219P;ENSG00000101489:ENST00000361795:exon5:c.G654T:p.P218P;	0.957070298365973	0.712
18	34854768	C	G	18	37274805	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon5:c.G627C:p.P209P;CELF4:NM_001025087:exon5:c.G657C:p.P219P;CELF4:NM_001025088:exon5:c.G654C:p.P218P;CELF4:NM_020180:exon5:c.G657C:p.P219P;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G627C:p.P209P;ENSG00000101489:ENST00000588597:exon5:c.G624C:p.P208P;ENSG00000101489:ENST00000601019:exon5:c.G654C:p.P218P;ENSG00000101489:ENST00000591282:exon5:c.G657C:p.P219P;ENSG00000101489:ENST00000412753:exon5:c.G657C:p.P219P;ENSG00000101489:ENST00000591287:exon5:c.G654C:p.P218P;ENSG00000101489:ENST00000601392:exon5:c.G627C:p.P209P;ENSG00000101489:ENST00000590112:exon4:c.G255C:p.P85P;ENSG00000101489:ENST00000589229:exon5:c.G288C:p.P96P;ENSG00000101489:ENST00000603232:exon5:c.G657C:p.P219P;ENSG00000101489:ENST00000587819:exon5:c.G255C:p.P85P;ENSG00000101489:ENST00000420428:exon5:c.G657C:p.P219P;ENSG00000101489:ENST00000361795:exon5:c.G654C:p.P218P;	0.98299753455686	0.65
18	34854768	C	T	18	37274805	y	n	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon5:c.G627A:p.P209P;CELF4:NM_001025087:exon5:c.G657A:p.P219P;CELF4:NM_001025088:exon5:c.G654A:p.P218P;CELF4:NM_020180:exon5:c.G657A:p.P219P;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G627A:p.P209P;ENSG00000101489:ENST00000588597:exon5:c.G624A:p.P208P;ENSG00000101489:ENST00000601019:exon5:c.G654A:p.P218P;ENSG00000101489:ENST00000591282:exon5:c.G657A:p.P219P;ENSG00000101489:ENST00000412753:exon5:c.G657A:p.P219P;ENSG00000101489:ENST00000591287:exon5:c.G654A:p.P218P;ENSG00000101489:ENST00000601392:exon5:c.G627A:p.P209P;ENSG00000101489:ENST00000590112:exon4:c.G255A:p.P85P;ENSG00000101489:ENST00000589229:exon5:c.G288A:p.P96P;ENSG00000101489:ENST00000603232:exon5:c.G657A:p.P219P;ENSG00000101489:ENST00000587819:exon5:c.G255A:p.P85P;ENSG00000101489:ENST00000420428:exon5:c.G657A:p.P219P;ENSG00000101489:ENST00000361795:exon5:c.G654A:p.P218P;	0.878921439095736	0.626
18	34854769	G	A	18	37274806	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.C626T:p.P209L;CELF4:NM_001025087:exon5:c.C656T:p.P219L;CELF4:NM_001025088:exon5:c.C653T:p.P218L;CELF4:NM_020180:exon5:c.C656T:p.P219L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.C626T:p.P209L;ENSG00000101489:ENST00000588597:exon5:c.C623T:p.P208L;ENSG00000101489:ENST00000601019:exon5:c.C653T:p.P218L;ENSG00000101489:ENST00000591282:exon5:c.C656T:p.P219L;ENSG00000101489:ENST00000412753:exon5:c.C656T:p.P219L;ENSG00000101489:ENST00000591287:exon5:c.C653T:p.P218L;ENSG00000101489:ENST00000601392:exon5:c.C626T:p.P209L;ENSG00000101489:ENST00000590112:exon4:c.C254T:p.P85L;ENSG00000101489:ENST00000589229:exon5:c.C287T:p.P96L;ENSG00000101489:ENST00000603232:exon5:c.C656T:p.P219L;ENSG00000101489:ENST00000587819:exon5:c.C254T:p.P85L;ENSG00000101489:ENST00000420428:exon5:c.C656T:p.P219L;ENSG00000101489:ENST00000361795:exon5:c.C653T:p.P218L;	0.0424693964187078	0.284
18	34854769	G	C	18	37274806	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.C626G:p.P209R;CELF4:NM_001025087:exon5:c.C656G:p.P219R;CELF4:NM_001025088:exon5:c.C653G:p.P218R;CELF4:NM_020180:exon5:c.C656G:p.P219R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.C626G:p.P209R;ENSG00000101489:ENST00000588597:exon5:c.C623G:p.P208R;ENSG00000101489:ENST00000601019:exon5:c.C653G:p.P218R;ENSG00000101489:ENST00000591282:exon5:c.C656G:p.P219R;ENSG00000101489:ENST00000412753:exon5:c.C656G:p.P219R;ENSG00000101489:ENST00000591287:exon5:c.C653G:p.P218R;ENSG00000101489:ENST00000601392:exon5:c.C626G:p.P209R;ENSG00000101489:ENST00000590112:exon4:c.C254G:p.P85R;ENSG00000101489:ENST00000589229:exon5:c.C287G:p.P96R;ENSG00000101489:ENST00000603232:exon5:c.C656G:p.P219R;ENSG00000101489:ENST00000587819:exon5:c.C254G:p.P85R;ENSG00000101489:ENST00000420428:exon5:c.C656G:p.P219R;ENSG00000101489:ENST00000361795:exon5:c.C653G:p.P218R;	0.0441385953609499	0.262
18	34854769	G	T	18	37274806	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.C626A:p.P209Q;CELF4:NM_001025087:exon5:c.C656A:p.P219Q;CELF4:NM_001025088:exon5:c.C653A:p.P218Q;CELF4:NM_020180:exon5:c.C656A:p.P219Q;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.C626A:p.P209Q;ENSG00000101489:ENST00000588597:exon5:c.C623A:p.P208Q;ENSG00000101489:ENST00000601019:exon5:c.C653A:p.P218Q;ENSG00000101489:ENST00000591282:exon5:c.C656A:p.P219Q;ENSG00000101489:ENST00000412753:exon5:c.C656A:p.P219Q;ENSG00000101489:ENST00000591287:exon5:c.C653A:p.P218Q;ENSG00000101489:ENST00000601392:exon5:c.C626A:p.P209Q;ENSG00000101489:ENST00000590112:exon4:c.C254A:p.P85Q;ENSG00000101489:ENST00000589229:exon5:c.C287A:p.P96Q;ENSG00000101489:ENST00000603232:exon5:c.C656A:p.P219Q;ENSG00000101489:ENST00000587819:exon5:c.C254A:p.P85Q;ENSG00000101489:ENST00000420428:exon5:c.C656A:p.P219Q;ENSG00000101489:ENST00000361795:exon5:c.C653A:p.P218Q;	0.0469153840692868	0.334
18	34854770	G	A	18	37274807	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.C625T:p.P209S;CELF4:NM_001025087:exon5:c.C655T:p.P219S;CELF4:NM_001025088:exon5:c.C652T:p.P218S;CELF4:NM_020180:exon5:c.C655T:p.P219S;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.C625T:p.P209S;ENSG00000101489:ENST00000588597:exon5:c.C622T:p.P208S;ENSG00000101489:ENST00000601019:exon5:c.C652T:p.P218S;ENSG00000101489:ENST00000591282:exon5:c.C655T:p.P219S;ENSG00000101489:ENST00000412753:exon5:c.C655T:p.P219S;ENSG00000101489:ENST00000591287:exon5:c.C652T:p.P218S;ENSG00000101489:ENST00000601392:exon5:c.C625T:p.P209S;ENSG00000101489:ENST00000590112:exon4:c.C253T:p.P85S;ENSG00000101489:ENST00000589229:exon5:c.C286T:p.P96S;ENSG00000101489:ENST00000603232:exon5:c.C655T:p.P219S;ENSG00000101489:ENST00000587819:exon5:c.C253T:p.P85S;ENSG00000101489:ENST00000420428:exon5:c.C655T:p.P219S;ENSG00000101489:ENST00000361795:exon5:c.C652T:p.P218S;	0.965767755311361	0.636
18	34854770	G	C	18	37274807	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.C625G:p.P209A;CELF4:NM_001025087:exon5:c.C655G:p.P219A;CELF4:NM_001025088:exon5:c.C652G:p.P218A;CELF4:NM_020180:exon5:c.C655G:p.P219A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.C625G:p.P209A;ENSG00000101489:ENST00000588597:exon5:c.C622G:p.P208A;ENSG00000101489:ENST00000601019:exon5:c.C652G:p.P218A;ENSG00000101489:ENST00000591282:exon5:c.C655G:p.P219A;ENSG00000101489:ENST00000412753:exon5:c.C655G:p.P219A;ENSG00000101489:ENST00000591287:exon5:c.C652G:p.P218A;ENSG00000101489:ENST00000601392:exon5:c.C625G:p.P209A;ENSG00000101489:ENST00000590112:exon4:c.C253G:p.P85A;ENSG00000101489:ENST00000589229:exon5:c.C286G:p.P96A;ENSG00000101489:ENST00000603232:exon5:c.C655G:p.P219A;ENSG00000101489:ENST00000587819:exon5:c.C253G:p.P85A;ENSG00000101489:ENST00000420428:exon5:c.C655G:p.P219A;ENSG00000101489:ENST00000361795:exon5:c.C652G:p.P218A;	0.560192358427517	0.55
18	34854770	G	T	18	37274807	y	n	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.C625A:p.P209T;CELF4:NM_001025087:exon5:c.C655A:p.P219T;CELF4:NM_001025088:exon5:c.C652A:p.P218T;CELF4:NM_020180:exon5:c.C655A:p.P219T;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.C625A:p.P209T;ENSG00000101489:ENST00000588597:exon5:c.C622A:p.P208T;ENSG00000101489:ENST00000601019:exon5:c.C652A:p.P218T;ENSG00000101489:ENST00000591282:exon5:c.C655A:p.P219T;ENSG00000101489:ENST00000412753:exon5:c.C655A:p.P219T;ENSG00000101489:ENST00000591287:exon5:c.C652A:p.P218T;ENSG00000101489:ENST00000601392:exon5:c.C625A:p.P209T;ENSG00000101489:ENST00000590112:exon4:c.C253A:p.P85T;ENSG00000101489:ENST00000589229:exon5:c.C286A:p.P96T;ENSG00000101489:ENST00000603232:exon5:c.C655A:p.P219T;ENSG00000101489:ENST00000587819:exon5:c.C253A:p.P85T;ENSG00000101489:ENST00000420428:exon5:c.C655A:p.P219T;ENSG00000101489:ENST00000361795:exon5:c.C652A:p.P218T;	0.748417971885128	0.776
18	34854846	C	A	18	37274883	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon5:c.G549T:p.G183G;CELF4:NM_001025087:exon5:c.G579T:p.G193G;CELF4:NM_001025088:exon5:c.G576T:p.G192G;CELF4:NM_020180:exon5:c.G579T:p.G193G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G549T:p.G183G;ENSG00000101489:ENST00000588597:exon5:c.G546T:p.G182G;ENSG00000101489:ENST00000601019:exon5:c.G576T:p.G192G;ENSG00000101489:ENST00000591282:exon5:c.G579T:p.G193G;ENSG00000101489:ENST00000412753:exon5:c.G579T:p.G193G;ENSG00000101489:ENST00000591287:exon5:c.G576T:p.G192G;ENSG00000101489:ENST00000601392:exon5:c.G549T:p.G183G;ENSG00000101489:ENST00000590112:exon4:c.G177T:p.G59G;ENSG00000101489:ENST00000589229:exon5:c.G210T:p.G70G;ENSG00000101489:ENST00000603232:exon5:c.G579T:p.G193G;ENSG00000101489:ENST00000587819:exon5:c.G177T:p.G59G;ENSG00000101489:ENST00000420428:exon5:c.G579T:p.G193G;ENSG00000101489:ENST00000587924:exon5:c.G183T:p.G61G;ENSG00000101489:ENST00000361795:exon5:c.G576T:p.G192G;	3.837353894408E-4	0.006
18	34854846	C	G	18	37274883	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon5:c.G549C:p.G183G;CELF4:NM_001025087:exon5:c.G579C:p.G193G;CELF4:NM_001025088:exon5:c.G576C:p.G192G;CELF4:NM_020180:exon5:c.G579C:p.G193G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G549C:p.G183G;ENSG00000101489:ENST00000588597:exon5:c.G546C:p.G182G;ENSG00000101489:ENST00000601019:exon5:c.G576C:p.G192G;ENSG00000101489:ENST00000591282:exon5:c.G579C:p.G193G;ENSG00000101489:ENST00000412753:exon5:c.G579C:p.G193G;ENSG00000101489:ENST00000591287:exon5:c.G576C:p.G192G;ENSG00000101489:ENST00000601392:exon5:c.G549C:p.G183G;ENSG00000101489:ENST00000590112:exon4:c.G177C:p.G59G;ENSG00000101489:ENST00000589229:exon5:c.G210C:p.G70G;ENSG00000101489:ENST00000603232:exon5:c.G579C:p.G193G;ENSG00000101489:ENST00000587819:exon5:c.G177C:p.G59G;ENSG00000101489:ENST00000420428:exon5:c.G579C:p.G193G;ENSG00000101489:ENST00000587924:exon5:c.G183C:p.G61G;ENSG00000101489:ENST00000361795:exon5:c.G576C:p.G192G;	7.64210095106011E-4	0.008
18	34854846	C	T	18	37274883	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon5:c.G549A:p.G183G;CELF4:NM_001025087:exon5:c.G579A:p.G193G;CELF4:NM_001025088:exon5:c.G576A:p.G192G;CELF4:NM_020180:exon5:c.G579A:p.G193G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G549A:p.G183G;ENSG00000101489:ENST00000588597:exon5:c.G546A:p.G182G;ENSG00000101489:ENST00000601019:exon5:c.G576A:p.G192G;ENSG00000101489:ENST00000591282:exon5:c.G579A:p.G193G;ENSG00000101489:ENST00000412753:exon5:c.G579A:p.G193G;ENSG00000101489:ENST00000591287:exon5:c.G576A:p.G192G;ENSG00000101489:ENST00000601392:exon5:c.G549A:p.G183G;ENSG00000101489:ENST00000590112:exon4:c.G177A:p.G59G;ENSG00000101489:ENST00000589229:exon5:c.G210A:p.G70G;ENSG00000101489:ENST00000603232:exon5:c.G579A:p.G193G;ENSG00000101489:ENST00000587819:exon5:c.G177A:p.G59G;ENSG00000101489:ENST00000420428:exon5:c.G579A:p.G193G;ENSG00000101489:ENST00000587924:exon5:c.G183A:p.G61G;ENSG00000101489:ENST00000361795:exon5:c.G576A:p.G192G;	4.97759936217936E-4	0.018
18	34854847	C	A	18	37274884	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.G548T:p.G183V;CELF4:NM_001025087:exon5:c.G578T:p.G193V;CELF4:NM_001025088:exon5:c.G575T:p.G192V;CELF4:NM_020180:exon5:c.G578T:p.G193V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G548T:p.G183V;ENSG00000101489:ENST00000588597:exon5:c.G545T:p.G182V;ENSG00000101489:ENST00000601019:exon5:c.G575T:p.G192V;ENSG00000101489:ENST00000591282:exon5:c.G578T:p.G193V;ENSG00000101489:ENST00000412753:exon5:c.G578T:p.G193V;ENSG00000101489:ENST00000591287:exon5:c.G575T:p.G192V;ENSG00000101489:ENST00000601392:exon5:c.G548T:p.G183V;ENSG00000101489:ENST00000590112:exon4:c.G176T:p.G59V;ENSG00000101489:ENST00000589229:exon5:c.G209T:p.G70V;ENSG00000101489:ENST00000603232:exon5:c.G578T:p.G193V;ENSG00000101489:ENST00000587819:exon5:c.G176T:p.G59V;ENSG00000101489:ENST00000420428:exon5:c.G578T:p.G193V;ENSG00000101489:ENST00000587924:exon5:c.G182T:p.G61V;ENSG00000101489:ENST00000361795:exon5:c.G575T:p.G192V;	0.914501394122216	0.774
18	34854847	C	G	18	37274884	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.G548C:p.G183A;CELF4:NM_001025087:exon5:c.G578C:p.G193A;CELF4:NM_001025088:exon5:c.G575C:p.G192A;CELF4:NM_020180:exon5:c.G578C:p.G193A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G548C:p.G183A;ENSG00000101489:ENST00000588597:exon5:c.G545C:p.G182A;ENSG00000101489:ENST00000601019:exon5:c.G575C:p.G192A;ENSG00000101489:ENST00000591282:exon5:c.G578C:p.G193A;ENSG00000101489:ENST00000412753:exon5:c.G578C:p.G193A;ENSG00000101489:ENST00000591287:exon5:c.G575C:p.G192A;ENSG00000101489:ENST00000601392:exon5:c.G548C:p.G183A;ENSG00000101489:ENST00000590112:exon4:c.G176C:p.G59A;ENSG00000101489:ENST00000589229:exon5:c.G209C:p.G70A;ENSG00000101489:ENST00000603232:exon5:c.G578C:p.G193A;ENSG00000101489:ENST00000587819:exon5:c.G176C:p.G59A;ENSG00000101489:ENST00000420428:exon5:c.G578C:p.G193A;ENSG00000101489:ENST00000587924:exon5:c.G182C:p.G61A;ENSG00000101489:ENST00000361795:exon5:c.G575C:p.G192A;	0.876591065731834	0.65
18	34854847	C	T	18	37274884	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon5:c.G548A:p.G183E;CELF4:NM_001025087:exon5:c.G578A:p.G193E;CELF4:NM_001025088:exon5:c.G575A:p.G192E;CELF4:NM_020180:exon5:c.G578A:p.G193E;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon5:c.G548A:p.G183E;ENSG00000101489:ENST00000588597:exon5:c.G545A:p.G182E;ENSG00000101489:ENST00000601019:exon5:c.G575A:p.G192E;ENSG00000101489:ENST00000591282:exon5:c.G578A:p.G193E;ENSG00000101489:ENST00000412753:exon5:c.G578A:p.G193E;ENSG00000101489:ENST00000591287:exon5:c.G575A:p.G192E;ENSG00000101489:ENST00000601392:exon5:c.G548A:p.G183E;ENSG00000101489:ENST00000590112:exon4:c.G176A:p.G59E;ENSG00000101489:ENST00000589229:exon5:c.G209A:p.G70E;ENSG00000101489:ENST00000603232:exon5:c.G578A:p.G193E;ENSG00000101489:ENST00000587819:exon5:c.G176A:p.G59E;ENSG00000101489:ENST00000420428:exon5:c.G578A:p.G193E;ENSG00000101489:ENST00000587924:exon5:c.G182A:p.G61E;ENSG00000101489:ENST00000361795:exon5:c.G575A:p.G192E;	0.131762640029104	0.362
18	34854848	C	A	18	37274885	y	y	splicing	CELF4(NM_001025089:exon6:c.548-1G>T;NM_020180:exon6:c.578-1G>T;NM_001025088:exon6:c.575-1G>T;NM_001025087:exon6:c.578-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon6:c.578-1G>T;ENST00000420428:exon6:c.578-1G>T;ENST00000591287:exon6:c.575-1G>T;ENST00000334919:exon6:c.548-1G>T;ENST00000590112:exon5:c.176-1G>T;ENST00000361795:exon6:c.575-1G>T;ENST00000601019:exon6:c.575-1G>T;ENST00000603232:exon6:c.578-1G>T;ENST00000591282:exon6:c.578-1G>T;ENST00000588597:exon6:c.545-1G>T;ENST00000601392:exon6:c.548-1G>T;ENST00000587819:exon6:c.176-1G>T;ENST00000589229:exon6:c.209-1G>T;ENST00000587924:exon6:c.182-1G>T)	.	.	0.999981760802075	0.938
18	34854848	C	G	18	37274885	y	y	splicing	CELF4(NM_001025089:exon6:c.548-1G>C;NM_020180:exon6:c.578-1G>C;NM_001025088:exon6:c.575-1G>C;NM_001025087:exon6:c.578-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon6:c.578-1G>C;ENST00000420428:exon6:c.578-1G>C;ENST00000591287:exon6:c.575-1G>C;ENST00000334919:exon6:c.548-1G>C;ENST00000590112:exon5:c.176-1G>C;ENST00000361795:exon6:c.575-1G>C;ENST00000601019:exon6:c.575-1G>C;ENST00000603232:exon6:c.578-1G>C;ENST00000591282:exon6:c.578-1G>C;ENST00000588597:exon6:c.545-1G>C;ENST00000601392:exon6:c.548-1G>C;ENST00000587819:exon6:c.176-1G>C;ENST00000589229:exon6:c.209-1G>C;ENST00000587924:exon6:c.182-1G>C)	.	.	0.999981760802075	0.938
18	34854848	C	T	18	37274885	y	y	splicing	CELF4(NM_001025089:exon6:c.548-1G>A;NM_020180:exon6:c.578-1G>A;NM_001025088:exon6:c.575-1G>A;NM_001025087:exon6:c.578-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon6:c.578-1G>A;ENST00000420428:exon6:c.578-1G>A;ENST00000591287:exon6:c.575-1G>A;ENST00000334919:exon6:c.548-1G>A;ENST00000590112:exon5:c.176-1G>A;ENST00000361795:exon6:c.575-1G>A;ENST00000601019:exon6:c.575-1G>A;ENST00000603232:exon6:c.578-1G>A;ENST00000591282:exon6:c.578-1G>A;ENST00000588597:exon6:c.545-1G>A;ENST00000601392:exon6:c.548-1G>A;ENST00000587819:exon6:c.176-1G>A;ENST00000589229:exon6:c.209-1G>A;ENST00000587924:exon6:c.182-1G>A)	.	.	0.999981760802075	0.938
18	34854849	T	A	18	37274886	y	y	splicing	CELF4(NM_001025089:exon6:c.548-2A>T;NM_020180:exon6:c.578-2A>T;NM_001025088:exon6:c.575-2A>T;NM_001025087:exon6:c.578-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon6:c.578-2A>T;ENST00000420428:exon6:c.578-2A>T;ENST00000591287:exon6:c.575-2A>T;ENST00000334919:exon6:c.548-2A>T;ENST00000590112:exon5:c.176-2A>T;ENST00000361795:exon6:c.575-2A>T;ENST00000601019:exon6:c.575-2A>T;ENST00000603232:exon6:c.578-2A>T;ENST00000591282:exon6:c.578-2A>T;ENST00000588597:exon6:c.545-2A>T;ENST00000601392:exon6:c.548-2A>T;ENST00000587819:exon6:c.176-2A>T;ENST00000589229:exon6:c.209-2A>T;ENST00000587924:exon6:c.182-2A>T)	.	.	0.999992752818502	0.928
18	34854849	T	C	18	37274886	y	y	splicing	CELF4(NM_001025089:exon6:c.548-2A>G;NM_020180:exon6:c.578-2A>G;NM_001025088:exon6:c.575-2A>G;NM_001025087:exon6:c.578-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon6:c.578-2A>G;ENST00000420428:exon6:c.578-2A>G;ENST00000591287:exon6:c.575-2A>G;ENST00000334919:exon6:c.548-2A>G;ENST00000590112:exon5:c.176-2A>G;ENST00000361795:exon6:c.575-2A>G;ENST00000601019:exon6:c.575-2A>G;ENST00000603232:exon6:c.578-2A>G;ENST00000591282:exon6:c.578-2A>G;ENST00000588597:exon6:c.545-2A>G;ENST00000601392:exon6:c.548-2A>G;ENST00000587819:exon6:c.176-2A>G;ENST00000589229:exon6:c.209-2A>G;ENST00000587924:exon6:c.182-2A>G)	.	.	0.999992752818502	0.928
18	34854849	T	G	18	37274886	y	y	splicing	CELF4(NM_001025089:exon6:c.548-2A>C;NM_020180:exon6:c.578-2A>C;NM_001025088:exon6:c.575-2A>C;NM_001025087:exon6:c.578-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon6:c.578-2A>C;ENST00000420428:exon6:c.578-2A>C;ENST00000591287:exon6:c.575-2A>C;ENST00000334919:exon6:c.548-2A>C;ENST00000590112:exon5:c.176-2A>C;ENST00000361795:exon6:c.575-2A>C;ENST00000601019:exon6:c.575-2A>C;ENST00000603232:exon6:c.578-2A>C;ENST00000591282:exon6:c.578-2A>C;ENST00000588597:exon6:c.545-2A>C;ENST00000601392:exon6:c.548-2A>C;ENST00000587819:exon6:c.176-2A>C;ENST00000589229:exon6:c.209-2A>C;ENST00000587924:exon6:c.182-2A>C)	.	.	0.999992752818502	0.928
18	34854850	G	A	18	37274887	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0788520017140772	0.08
18	34854850	G	C	18	37274887	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.999770509151235	0.95
18	34854850	G	T	18	37274887	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.991950058080858	0.866
18	34854851	C	A	18	37274888	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	2.04012380773242E-5	0.0
18	34854851	C	G	18	37274888	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	2.65526064692655E-5	0.012
18	34854851	C	T	18	37274888	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	2.79600484451943E-5	0.0
18	34854852	G	A	18	37274889	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	1.24120599783679E-4	0.002
18	34854852	G	C	18	37274889	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00142514981147849	0.09
18	34854852	G	T	18	37274889	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.995002602076932	0.838
18	34854853	A	C	18	37274890	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0836024092688796	0.308
18	34854853	A	G	18	37274890	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	2.15348729821549E-4	0.012
18	34854853	A	T	18	37274890	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0773246927141834	0.244
18	34854854	G	A	18	37274891	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	1.49213232079395E-4	0.008
18	34854854	G	C	18	37274891	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0388914704993765	0.212
18	34854854	G	T	18	37274891	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.123957725024936	0.19
18	34854855	G	A	18	37274892	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	1.32073141786479E-4	0.002
18	34854855	G	C	18	37274892	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00169364210431588	0.082
18	34854855	G	T	18	37274892	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.006708449802124	0.148
18	34854856	A	C	18	37274893	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.758397517786679	0.696
18	34854856	A	G	18	37274893	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00219115607181135	0.076
18	34854856	A	T	18	37274893	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.752636263521774	0.678
18	34854857	C	A	18	37274894	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	3.67763403061663E-5	0.0
18	34854857	C	G	18	37274894	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	6.3326907119817E-5	0.006
18	34854857	C	T	18	37274894	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0016463193272897	0.064
18	34854858	G	A	18	37274895	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	1.04103100197554E-4	0.0
18	34854858	G	C	18	37274895	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00138510004119948	0.058
18	34854858	G	T	18	37274895	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.99931441198623	0.936
18	34854859	C	A	18	37274896	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	4.91029998901136E-5	0.0
18	34854859	C	G	18	37274896	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	3.37522311287489E-5	0.0
18	34854859	C	T	18	37274896	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	1.76852889217248E-4	0.0
18	34855070	C	A	18	37275107	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00173802407938966	0.044
18	34855070	C	G	18	37275107	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	5.97580470903468E-4	0.022
18	34855070	C	T	18	37275107	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00128841278872532	0.108
18	34855071	C	A	18	37275108	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00653590898524227	0.118
18	34855071	C	G	18	37275108	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0166818029847385	0.062
18	34855071	C	T	18	37275108	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0170201788467343	0.134
18	34855072	G	A	18	37275109	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	3.0196515654227E-5	0.016
18	34855072	G	C	18	37275109	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	2.18276894141827E-4	0.082
18	34855072	G	T	18	37275109	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	5.64104150605244E-4	0.054
18	34855073	C	A	18	37275110	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.999969492549631	0.976
18	34855073	C	G	18	37275110	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.99997811367938	0.99
18	34855073	C	T	18	37275110	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.999982371779947	0.992
18	34855074	G	A	18	37275111	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0041810848399499	0.194
18	34855074	G	C	18	37275111	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	1.9878710882235E-4	0.068
18	34855074	G	T	18	37275111	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	1.88029739178657E-4	0.02
18	34855075	C	A	18	37275112	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.999669945126357	0.758
18	34855075	C	G	18	37275112	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.999718891551585	0.75
18	34855075	C	T	18	37275112	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00167508673986813	0.044
18	34855076	A	C	18	37275113	y	y	splicing	CELF4(NM_001025089:exon5:c.547+2T>G;NM_020180:exon5:c.577+2T>G;NM_001025088:exon5:c.574+2T>G;NM_001025087:exon5:c.577+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.577+2T>G;ENST00000420428:exon5:c.577+2T>G;ENST00000591287:exon5:c.574+2T>G;ENST00000334919:exon5:c.547+2T>G;ENST00000590112:exon4:c.175+2T>G;ENST00000361795:exon5:c.574+2T>G;ENST00000601019:exon5:c.574+2T>G;ENST00000603232:exon5:c.577+2T>G;ENST00000591282:exon5:c.577+2T>G;ENST00000588597:exon5:c.544+2T>G;ENST00000601392:exon5:c.547+2T>G;ENST00000587819:exon5:c.175+2T>G;ENST00000589229:exon5:c.208+2T>G;ENST00000587924:exon5:c.181+2T>G)	.	.	0.999988624979899	0.944
18	34855076	A	G	18	37275113	y	y	splicing	CELF4(NM_001025089:exon5:c.547+2T>C;NM_020180:exon5:c.577+2T>C;NM_001025088:exon5:c.574+2T>C;NM_001025087:exon5:c.577+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.577+2T>C;ENST00000420428:exon5:c.577+2T>C;ENST00000591287:exon5:c.574+2T>C;ENST00000334919:exon5:c.547+2T>C;ENST00000590112:exon4:c.175+2T>C;ENST00000361795:exon5:c.574+2T>C;ENST00000601019:exon5:c.574+2T>C;ENST00000603232:exon5:c.577+2T>C;ENST00000591282:exon5:c.577+2T>C;ENST00000588597:exon5:c.544+2T>C;ENST00000601392:exon5:c.547+2T>C;ENST00000587819:exon5:c.175+2T>C;ENST00000589229:exon5:c.208+2T>C;ENST00000587924:exon5:c.181+2T>C)	.	.	0.999988386900436	0.956
18	34855076	A	T	18	37275113	y	y	splicing	CELF4(NM_001025089:exon5:c.547+2T>A;NM_020180:exon5:c.577+2T>A;NM_001025088:exon5:c.574+2T>A;NM_001025087:exon5:c.577+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.577+2T>A;ENST00000420428:exon5:c.577+2T>A;ENST00000591287:exon5:c.574+2T>A;ENST00000334919:exon5:c.547+2T>A;ENST00000590112:exon4:c.175+2T>A;ENST00000361795:exon5:c.574+2T>A;ENST00000601019:exon5:c.574+2T>A;ENST00000603232:exon5:c.577+2T>A;ENST00000591282:exon5:c.577+2T>A;ENST00000588597:exon5:c.544+2T>A;ENST00000601392:exon5:c.547+2T>A;ENST00000587819:exon5:c.175+2T>A;ENST00000589229:exon5:c.208+2T>A;ENST00000587924:exon5:c.181+2T>A)	.	.	0.999988624979899	0.944
18	34855077	C	A	18	37275114	y	y	splicing	CELF4(NM_001025089:exon5:c.547+1G>T;NM_020180:exon5:c.577+1G>T;NM_001025088:exon5:c.574+1G>T;NM_001025087:exon5:c.577+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.577+1G>T;ENST00000420428:exon5:c.577+1G>T;ENST00000591287:exon5:c.574+1G>T;ENST00000334919:exon5:c.547+1G>T;ENST00000590112:exon4:c.175+1G>T;ENST00000361795:exon5:c.574+1G>T;ENST00000601019:exon5:c.574+1G>T;ENST00000603232:exon5:c.577+1G>T;ENST00000591282:exon5:c.577+1G>T;ENST00000588597:exon5:c.544+1G>T;ENST00000601392:exon5:c.547+1G>T;ENST00000587819:exon5:c.175+1G>T;ENST00000589229:exon5:c.208+1G>T;ENST00000587924:exon5:c.181+1G>T)	.	.	0.99997633459954	0.952
18	34855077	C	G	18	37275114	y	y	splicing	CELF4(NM_001025089:exon5:c.547+1G>C;NM_020180:exon5:c.577+1G>C;NM_001025088:exon5:c.574+1G>C;NM_001025087:exon5:c.577+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.577+1G>C;ENST00000420428:exon5:c.577+1G>C;ENST00000591287:exon5:c.574+1G>C;ENST00000334919:exon5:c.547+1G>C;ENST00000590112:exon4:c.175+1G>C;ENST00000361795:exon5:c.574+1G>C;ENST00000601019:exon5:c.574+1G>C;ENST00000603232:exon5:c.577+1G>C;ENST00000591282:exon5:c.577+1G>C;ENST00000588597:exon5:c.544+1G>C;ENST00000601392:exon5:c.547+1G>C;ENST00000587819:exon5:c.175+1G>C;ENST00000589229:exon5:c.208+1G>C;ENST00000587924:exon5:c.181+1G>C)	.	.	0.99997633459954	0.952
18	34855077	C	T	18	37275114	y	y	splicing	CELF4(NM_001025089:exon5:c.547+1G>A;NM_020180:exon5:c.577+1G>A;NM_001025088:exon5:c.574+1G>A;NM_001025087:exon5:c.577+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.577+1G>A;ENST00000420428:exon5:c.577+1G>A;ENST00000591287:exon5:c.574+1G>A;ENST00000334919:exon5:c.547+1G>A;ENST00000590112:exon4:c.175+1G>A;ENST00000361795:exon5:c.574+1G>A;ENST00000601019:exon5:c.574+1G>A;ENST00000603232:exon5:c.577+1G>A;ENST00000591282:exon5:c.577+1G>A;ENST00000588597:exon5:c.544+1G>A;ENST00000601392:exon5:c.547+1G>A;ENST00000587819:exon5:c.175+1G>A;ENST00000589229:exon5:c.208+1G>A;ENST00000587924:exon5:c.181+1G>A)	.	.	0.99997633459954	0.952
18	34855078	C	A	18	37275115	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.G547T:p.G183W;CELF4:NM_001025087:exon4:c.G577T:p.G193W;CELF4:NM_001025088:exon4:c.G574T:p.G192W;CELF4:NM_020180:exon4:c.G577T:p.G193W;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.G547T:p.G183W;ENSG00000101489:ENST00000588597:exon4:c.G544T:p.G182W;ENSG00000101489:ENST00000601019:exon4:c.G574T:p.G192W;ENSG00000101489:ENST00000591282:exon4:c.G577T:p.G193W;ENSG00000101489:ENST00000412753:exon4:c.G577T:p.G193W;ENSG00000101489:ENST00000591287:exon4:c.G574T:p.G192W;ENSG00000101489:ENST00000601392:exon4:c.G547T:p.G183W;ENSG00000101489:ENST00000590112:exon3:c.G175T:p.G59W;ENSG00000101489:ENST00000589229:exon4:c.G208T:p.G70W;ENSG00000101489:ENST00000603232:exon4:c.G577T:p.G193W;ENSG00000101489:ENST00000587819:exon4:c.G175T:p.G59W;ENSG00000101489:ENST00000420428:exon4:c.G577T:p.G193W;ENSG00000101489:ENST00000587924:exon4:c.G181T:p.G61W;ENSG00000101489:ENST00000361795:exon4:c.G574T:p.G192W;	0.999985863429542	1.0
18	34855078	C	G	18	37275115	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.G547C:p.G183R;CELF4:NM_001025087:exon4:c.G577C:p.G193R;CELF4:NM_001025088:exon4:c.G574C:p.G192R;CELF4:NM_020180:exon4:c.G577C:p.G193R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.G547C:p.G183R;ENSG00000101489:ENST00000588597:exon4:c.G544C:p.G182R;ENSG00000101489:ENST00000601019:exon4:c.G574C:p.G192R;ENSG00000101489:ENST00000591282:exon4:c.G577C:p.G193R;ENSG00000101489:ENST00000412753:exon4:c.G577C:p.G193R;ENSG00000101489:ENST00000591287:exon4:c.G574C:p.G192R;ENSG00000101489:ENST00000601392:exon4:c.G547C:p.G183R;ENSG00000101489:ENST00000590112:exon3:c.G175C:p.G59R;ENSG00000101489:ENST00000589229:exon4:c.G208C:p.G70R;ENSG00000101489:ENST00000603232:exon4:c.G577C:p.G193R;ENSG00000101489:ENST00000587819:exon4:c.G175C:p.G59R;ENSG00000101489:ENST00000420428:exon4:c.G577C:p.G193R;ENSG00000101489:ENST00000587924:exon4:c.G181C:p.G61R;ENSG00000101489:ENST00000361795:exon4:c.G574C:p.G192R;	0.999996484383085	1.0
18	34855078	C	T	18	37275115	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.G547A:p.G183R;CELF4:NM_001025087:exon4:c.G577A:p.G193R;CELF4:NM_001025088:exon4:c.G574A:p.G192R;CELF4:NM_020180:exon4:c.G577A:p.G193R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.G547A:p.G183R;ENSG00000101489:ENST00000588597:exon4:c.G544A:p.G182R;ENSG00000101489:ENST00000601019:exon4:c.G574A:p.G192R;ENSG00000101489:ENST00000591282:exon4:c.G577A:p.G193R;ENSG00000101489:ENST00000412753:exon4:c.G577A:p.G193R;ENSG00000101489:ENST00000591287:exon4:c.G574A:p.G192R;ENSG00000101489:ENST00000601392:exon4:c.G547A:p.G183R;ENSG00000101489:ENST00000590112:exon3:c.G175A:p.G59R;ENSG00000101489:ENST00000589229:exon4:c.G208A:p.G70R;ENSG00000101489:ENST00000603232:exon4:c.G577A:p.G193R;ENSG00000101489:ENST00000587819:exon4:c.G175A:p.G59R;ENSG00000101489:ENST00000420428:exon4:c.G577A:p.G193R;ENSG00000101489:ENST00000587924:exon4:c.G181A:p.G61R;ENSG00000101489:ENST00000361795:exon4:c.G574A:p.G192R;	0.99999472991656	1.0
18	34855079	C	A	18	37275116	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.G546T:p.K182N;CELF4:NM_001025087:exon4:c.G576T:p.K192N;CELF4:NM_001025088:exon4:c.G573T:p.K191N;CELF4:NM_020180:exon4:c.G576T:p.K192N;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.G546T:p.K182N;ENSG00000101489:ENST00000588597:exon4:c.G543T:p.K181N;ENSG00000101489:ENST00000601019:exon4:c.G573T:p.K191N;ENSG00000101489:ENST00000591282:exon4:c.G576T:p.K192N;ENSG00000101489:ENST00000412753:exon4:c.G576T:p.K192N;ENSG00000101489:ENST00000591287:exon4:c.G573T:p.K191N;ENSG00000101489:ENST00000601392:exon4:c.G546T:p.K182N;ENSG00000101489:ENST00000590112:exon3:c.G174T:p.K58N;ENSG00000101489:ENST00000589229:exon4:c.G207T:p.K69N;ENSG00000101489:ENST00000603232:exon4:c.G576T:p.K192N;ENSG00000101489:ENST00000587819:exon4:c.G174T:p.K58N;ENSG00000101489:ENST00000420428:exon4:c.G576T:p.K192N;ENSG00000101489:ENST00000587924:exon4:c.G180T:p.K60N;ENSG00000101489:ENST00000361795:exon4:c.G573T:p.K191N;	0.0223170133506721	0.22
18	34855079	C	G	18	37275116	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.G546C:p.K182N;CELF4:NM_001025087:exon4:c.G576C:p.K192N;CELF4:NM_001025088:exon4:c.G573C:p.K191N;CELF4:NM_020180:exon4:c.G576C:p.K192N;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.G546C:p.K182N;ENSG00000101489:ENST00000588597:exon4:c.G543C:p.K181N;ENSG00000101489:ENST00000601019:exon4:c.G573C:p.K191N;ENSG00000101489:ENST00000591282:exon4:c.G576C:p.K192N;ENSG00000101489:ENST00000412753:exon4:c.G576C:p.K192N;ENSG00000101489:ENST00000591287:exon4:c.G573C:p.K191N;ENSG00000101489:ENST00000601392:exon4:c.G546C:p.K182N;ENSG00000101489:ENST00000590112:exon3:c.G174C:p.K58N;ENSG00000101489:ENST00000589229:exon4:c.G207C:p.K69N;ENSG00000101489:ENST00000603232:exon4:c.G576C:p.K192N;ENSG00000101489:ENST00000587819:exon4:c.G174C:p.K58N;ENSG00000101489:ENST00000420428:exon4:c.G576C:p.K192N;ENSG00000101489:ENST00000587924:exon4:c.G180C:p.K60N;ENSG00000101489:ENST00000361795:exon4:c.G573C:p.K191N;	0.0554006965022732	0.406
18	34855079	C	T	18	37275116	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon4:c.G546A:p.K182K;CELF4:NM_001025087:exon4:c.G576A:p.K192K;CELF4:NM_001025088:exon4:c.G573A:p.K191K;CELF4:NM_020180:exon4:c.G576A:p.K192K;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.G546A:p.K182K;ENSG00000101489:ENST00000588597:exon4:c.G543A:p.K181K;ENSG00000101489:ENST00000601019:exon4:c.G573A:p.K191K;ENSG00000101489:ENST00000591282:exon4:c.G576A:p.K192K;ENSG00000101489:ENST00000412753:exon4:c.G576A:p.K192K;ENSG00000101489:ENST00000591287:exon4:c.G573A:p.K191K;ENSG00000101489:ENST00000601392:exon4:c.G546A:p.K182K;ENSG00000101489:ENST00000590112:exon3:c.G174A:p.K58K;ENSG00000101489:ENST00000589229:exon4:c.G207A:p.K69K;ENSG00000101489:ENST00000603232:exon4:c.G576A:p.K192K;ENSG00000101489:ENST00000587819:exon4:c.G174A:p.K58K;ENSG00000101489:ENST00000420428:exon4:c.G576A:p.K192K;ENSG00000101489:ENST00000587924:exon4:c.G180A:p.K60K;ENSG00000101489:ENST00000361795:exon4:c.G573A:p.K191K;	3.45862776974708E-4	0.038
18	34855080	T	A	18	37275117	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.A545T:p.K182M;CELF4:NM_001025087:exon4:c.A575T:p.K192M;CELF4:NM_001025088:exon4:c.A572T:p.K191M;CELF4:NM_020180:exon4:c.A575T:p.K192M;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A545T:p.K182M;ENSG00000101489:ENST00000588597:exon4:c.A542T:p.K181M;ENSG00000101489:ENST00000601019:exon4:c.A572T:p.K191M;ENSG00000101489:ENST00000591282:exon4:c.A575T:p.K192M;ENSG00000101489:ENST00000412753:exon4:c.A575T:p.K192M;ENSG00000101489:ENST00000591287:exon4:c.A572T:p.K191M;ENSG00000101489:ENST00000601392:exon4:c.A545T:p.K182M;ENSG00000101489:ENST00000590112:exon3:c.A173T:p.K58M;ENSG00000101489:ENST00000589229:exon4:c.A206T:p.K69M;ENSG00000101489:ENST00000603232:exon4:c.A575T:p.K192M;ENSG00000101489:ENST00000587819:exon4:c.A173T:p.K58M;ENSG00000101489:ENST00000420428:exon4:c.A575T:p.K192M;ENSG00000101489:ENST00000587924:exon4:c.A179T:p.K60M;ENSG00000101489:ENST00000361795:exon4:c.A572T:p.K191M;	0.99259946040597	0.858
18	34855080	T	C	18	37275117	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.A545G:p.K182R;CELF4:NM_001025087:exon4:c.A575G:p.K192R;CELF4:NM_001025088:exon4:c.A572G:p.K191R;CELF4:NM_020180:exon4:c.A575G:p.K192R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A545G:p.K182R;ENSG00000101489:ENST00000588597:exon4:c.A542G:p.K181R;ENSG00000101489:ENST00000601019:exon4:c.A572G:p.K191R;ENSG00000101489:ENST00000591282:exon4:c.A575G:p.K192R;ENSG00000101489:ENST00000412753:exon4:c.A575G:p.K192R;ENSG00000101489:ENST00000591287:exon4:c.A572G:p.K191R;ENSG00000101489:ENST00000601392:exon4:c.A545G:p.K182R;ENSG00000101489:ENST00000590112:exon3:c.A173G:p.K58R;ENSG00000101489:ENST00000589229:exon4:c.A206G:p.K69R;ENSG00000101489:ENST00000603232:exon4:c.A575G:p.K192R;ENSG00000101489:ENST00000587819:exon4:c.A173G:p.K58R;ENSG00000101489:ENST00000420428:exon4:c.A575G:p.K192R;ENSG00000101489:ENST00000587924:exon4:c.A179G:p.K60R;ENSG00000101489:ENST00000361795:exon4:c.A572G:p.K191R;	0.592224447604664	0.478
18	34855080	T	G	18	37275117	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.A545C:p.K182T;CELF4:NM_001025087:exon4:c.A575C:p.K192T;CELF4:NM_001025088:exon4:c.A572C:p.K191T;CELF4:NM_020180:exon4:c.A575C:p.K192T;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A545C:p.K182T;ENSG00000101489:ENST00000588597:exon4:c.A542C:p.K181T;ENSG00000101489:ENST00000601019:exon4:c.A572C:p.K191T;ENSG00000101489:ENST00000591282:exon4:c.A575C:p.K192T;ENSG00000101489:ENST00000412753:exon4:c.A575C:p.K192T;ENSG00000101489:ENST00000591287:exon4:c.A572C:p.K191T;ENSG00000101489:ENST00000601392:exon4:c.A545C:p.K182T;ENSG00000101489:ENST00000590112:exon3:c.A173C:p.K58T;ENSG00000101489:ENST00000589229:exon4:c.A206C:p.K69T;ENSG00000101489:ENST00000603232:exon4:c.A575C:p.K192T;ENSG00000101489:ENST00000587819:exon4:c.A173C:p.K58T;ENSG00000101489:ENST00000420428:exon4:c.A575C:p.K192T;ENSG00000101489:ENST00000587924:exon4:c.A179C:p.K60T;ENSG00000101489:ENST00000361795:exon4:c.A572C:p.K191T;	0.717916047042198	0.786
18	34855205	T	A	18	37275242	y	y	exonic;splicing	CELF4;CELF4(NM_001025088:exon5:c.449-2A>T)	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.A420T:p.E140D;CELF4:NM_001025087:exon4:c.A450T:p.Q150H;CELF4:NM_020180:exon4:c.A450T:p.Q150H;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon5:c.449-2A>T;ENST00000590112:exon4:c.50-2A>T;ENST00000361795:exon5:c.449-2A>T;ENST00000601019:exon5:c.449-2A>T;ENST00000588597:exon5:c.419-2A>T;ENST00000587819:exon5:c.50-2A>T)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A420T:p.E140D;ENSG00000101489:ENST00000591282:exon4:c.A450T:p.Q150H;ENSG00000101489:ENST00000412753:exon4:c.A450T:p.Q150H;ENSG00000101489:ENST00000601392:exon4:c.A420T:p.E140D;ENSG00000101489:ENST00000589229:exon4:c.A81T:p.Q27H;ENSG00000101489:ENST00000603232:exon4:c.A450T:p.Q150H;ENSG00000101489:ENST00000420428:exon4:c.A450T:p.Q150H;ENSG00000101489:ENST00000587924:exon4:c.A54T:p.K18N;	0.634603981139071	0.734
18	34855205	T	C	18	37275242	y	y	exonic;splicing	CELF4;CELF4(NM_001025088:exon5:c.449-2A>G)	synonymous SNV	CELF4:NM_001025089:exon4:c.A420G:p.E140E;CELF4:NM_001025087:exon4:c.A450G:p.Q150Q;CELF4:NM_020180:exon4:c.A450G:p.Q150Q;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon5:c.449-2A>G;ENST00000590112:exon4:c.50-2A>G;ENST00000361795:exon5:c.449-2A>G;ENST00000601019:exon5:c.449-2A>G;ENST00000588597:exon5:c.419-2A>G;ENST00000587819:exon5:c.50-2A>G)	synonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A420G:p.E140E;ENSG00000101489:ENST00000591282:exon4:c.A450G:p.Q150Q;ENSG00000101489:ENST00000412753:exon4:c.A450G:p.Q150Q;ENSG00000101489:ENST00000601392:exon4:c.A420G:p.E140E;ENSG00000101489:ENST00000589229:exon4:c.A81G:p.Q27Q;ENSG00000101489:ENST00000603232:exon4:c.A450G:p.Q150Q;ENSG00000101489:ENST00000420428:exon4:c.A450G:p.Q150Q;ENSG00000101489:ENST00000587924:exon4:c.A54G:p.K18K;	0.705039002545788	0.76
18	34855205	T	G	18	37275242	y	y	exonic;splicing	CELF4;CELF4(NM_001025088:exon5:c.449-2A>C)	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.A420C:p.E140D;CELF4:NM_001025087:exon4:c.A450C:p.Q150H;CELF4:NM_020180:exon4:c.A450C:p.Q150H;	exonic;splicing	ENSG00000101489;ENSG00000101489(ENST00000591287:exon5:c.449-2A>C;ENST00000590112:exon4:c.50-2A>C;ENST00000361795:exon5:c.449-2A>C;ENST00000601019:exon5:c.449-2A>C;ENST00000588597:exon5:c.419-2A>C;ENST00000587819:exon5:c.50-2A>C)	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A420C:p.E140D;ENSG00000101489:ENST00000591282:exon4:c.A450C:p.Q150H;ENSG00000101489:ENST00000412753:exon4:c.A450C:p.Q150H;ENSG00000101489:ENST00000601392:exon4:c.A420C:p.E140D;ENSG00000101489:ENST00000589229:exon4:c.A81C:p.Q27H;ENSG00000101489:ENST00000603232:exon4:c.A450C:p.Q150H;ENSG00000101489:ENST00000420428:exon4:c.A450C:p.Q150H;ENSG00000101489:ENST00000587924:exon4:c.A54C:p.K18N;	0.696175556535836	0.804
18	34855206	T	A	18	37275243	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.A419T:p.E140V;CELF4:NM_001025087:exon4:c.A449T:p.Q150L;CELF4:NM_020180:exon4:c.A449T:p.Q150L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A419T:p.E140V;ENSG00000101489:ENST00000591282:exon4:c.A449T:p.Q150L;ENSG00000101489:ENST00000412753:exon4:c.A449T:p.Q150L;ENSG00000101489:ENST00000601392:exon4:c.A419T:p.E140V;ENSG00000101489:ENST00000589229:exon4:c.A80T:p.Q27L;ENSG00000101489:ENST00000603232:exon4:c.A449T:p.Q150L;ENSG00000101489:ENST00000420428:exon4:c.A449T:p.Q150L;ENSG00000101489:ENST00000587924:exon4:c.A53T:p.K18I;	0.424106366976371	0.462
18	34855206	T	C	18	37275243	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.A419G:p.E140G;CELF4:NM_001025087:exon4:c.A449G:p.Q150R;CELF4:NM_020180:exon4:c.A449G:p.Q150R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A419G:p.E140G;ENSG00000101489:ENST00000591282:exon4:c.A449G:p.Q150R;ENSG00000101489:ENST00000412753:exon4:c.A449G:p.Q150R;ENSG00000101489:ENST00000601392:exon4:c.A419G:p.E140G;ENSG00000101489:ENST00000589229:exon4:c.A80G:p.Q27R;ENSG00000101489:ENST00000603232:exon4:c.A449G:p.Q150R;ENSG00000101489:ENST00000420428:exon4:c.A449G:p.Q150R;ENSG00000101489:ENST00000587924:exon4:c.A53G:p.K18R;	0.354199321512546	0.488
18	34855206	T	G	18	37275243	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon4:c.A419C:p.E140A;CELF4:NM_001025087:exon4:c.A449C:p.Q150P;CELF4:NM_020180:exon4:c.A449C:p.Q150P;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon4:c.A419C:p.E140A;ENSG00000101489:ENST00000591282:exon4:c.A449C:p.Q150P;ENSG00000101489:ENST00000412753:exon4:c.A449C:p.Q150P;ENSG00000101489:ENST00000601392:exon4:c.A419C:p.E140A;ENSG00000101489:ENST00000589229:exon4:c.A80C:p.Q27P;ENSG00000101489:ENST00000603232:exon4:c.A449C:p.Q150P;ENSG00000101489:ENST00000420428:exon4:c.A449C:p.Q150P;ENSG00000101489:ENST00000587924:exon4:c.A53C:p.K18T;	0.336906703281214	0.488
18	34855207	C	A	18	37275244	y	y	splicing	CELF4(NM_001025089:exon5:c.419-1G>T;NM_020180:exon5:c.449-1G>T;NM_001025087:exon5:c.449-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.449-1G>T;ENST00000420428:exon5:c.449-1G>T;ENST00000334919:exon5:c.419-1G>T;ENST00000603232:exon5:c.449-1G>T;ENST00000591282:exon5:c.449-1G>T;ENST00000601392:exon5:c.419-1G>T;ENST00000589229:exon5:c.80-1G>T;ENST00000587924:exon5:c.53-1G>T)	.	.	0.999981760802075	0.956
18	34855207	C	G	18	37275244	y	y	splicing	CELF4(NM_001025089:exon5:c.419-1G>C;NM_020180:exon5:c.449-1G>C;NM_001025087:exon5:c.449-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.449-1G>C;ENST00000420428:exon5:c.449-1G>C;ENST00000334919:exon5:c.419-1G>C;ENST00000603232:exon5:c.449-1G>C;ENST00000591282:exon5:c.449-1G>C;ENST00000601392:exon5:c.419-1G>C;ENST00000589229:exon5:c.80-1G>C;ENST00000587924:exon5:c.53-1G>C)	.	.	0.999981760802075	0.956
18	34855207	C	T	18	37275244	y	y	splicing	CELF4(NM_001025089:exon5:c.419-1G>A;NM_020180:exon5:c.449-1G>A;NM_001025087:exon5:c.449-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.449-1G>A;ENST00000420428:exon5:c.449-1G>A;ENST00000334919:exon5:c.419-1G>A;ENST00000603232:exon5:c.449-1G>A;ENST00000591282:exon5:c.449-1G>A;ENST00000601392:exon5:c.419-1G>A;ENST00000589229:exon5:c.80-1G>A;ENST00000587924:exon5:c.53-1G>A)	.	.	0.999981760802075	0.956
18	34855208	T	A	18	37275245	y	y	splicing	CELF4(NM_001025089:exon5:c.419-2A>T;NM_020180:exon5:c.449-2A>T;NM_001025087:exon5:c.449-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.449-2A>T;ENST00000420428:exon5:c.449-2A>T;ENST00000334919:exon5:c.419-2A>T;ENST00000603232:exon5:c.449-2A>T;ENST00000591282:exon5:c.449-2A>T;ENST00000601392:exon5:c.419-2A>T;ENST00000589229:exon5:c.80-2A>T;ENST00000587924:exon5:c.53-2A>T)	.	.	0.999992752818502	0.946
18	34855208	T	C	18	37275245	y	y	splicing	CELF4(NM_001025089:exon5:c.419-2A>G;NM_020180:exon5:c.449-2A>G;NM_001025087:exon5:c.449-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.449-2A>G;ENST00000420428:exon5:c.449-2A>G;ENST00000334919:exon5:c.419-2A>G;ENST00000603232:exon5:c.449-2A>G;ENST00000591282:exon5:c.449-2A>G;ENST00000601392:exon5:c.419-2A>G;ENST00000589229:exon5:c.80-2A>G;ENST00000587924:exon5:c.53-2A>G)	.	.	0.999992752818502	0.946
18	34855208	T	G	18	37275245	y	y	splicing	CELF4(NM_001025089:exon5:c.419-2A>C;NM_020180:exon5:c.449-2A>C;NM_001025087:exon5:c.449-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon5:c.449-2A>C;ENST00000420428:exon5:c.449-2A>C;ENST00000334919:exon5:c.419-2A>C;ENST00000603232:exon5:c.449-2A>C;ENST00000591282:exon5:c.449-2A>C;ENST00000601392:exon5:c.419-2A>C;ENST00000589229:exon5:c.80-2A>C;ENST00000587924:exon5:c.53-2A>C)	.	.	0.999992752818502	0.946
18	34855209	A	C	18	37275246	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.816701829859911	0.678
18	34855209	A	G	18	37275246	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	2.81740503819976E-4	0.004
18	34855209	A	T	18	37275246	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0366649985501616	0.346
18	34855210	G	A	18	37275247	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0137841868387444	0.13
18	34855210	G	C	18	37275247	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0344952304938754	0.184
18	34855210	G	T	18	37275247	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0506244391574517	0.254
18	34855211	A	C	18	37275248	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.999022959360012	0.954
18	34855211	A	G	18	37275248	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.622221298101998	0.406
18	34855211	A	T	18	37275248	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.998596730344962	0.946
18	34855212	A	C	18	37275249	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.995021705353498	0.864
18	34855212	A	G	18	37275249	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0140072090387873	0.348
18	34855212	A	T	18	37275249	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.989827723350534	0.834
18	34855213	C	A	18	37275250	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00229915904816129	0.026
18	34855213	C	G	18	37275250	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.00138196831676476	0.02
18	34855213	C	T	18	37275250	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0756386709698311	0.188
18	34855214	A	C	18	37275251	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.122334649059868	0.386
18	34855214	A	G	18	37275251	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	7.39853033497516E-5	0.044
18	34855214	A	T	18	37275251	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.999784799686932	0.982
18	34855215	A	C	18	37275252	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.985065018761166	0.714
18	34855215	A	G	18	37275252	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.278630084051063	0.402
18	34855215	A	T	18	37275252	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.99735343266213	0.83
18	34855216	A	C	18	37275253	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.986342003500191	0.848
18	34855216	A	G	18	37275253	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.125702899269744	0.304
18	34855216	A	T	18	37275253	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.997599183489854	0.882
18	34855217	A	C	18	37275254	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.999979308854874	0.982
18	34855217	A	G	18	37275254	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.824610509158195	0.512
18	34855217	A	T	18	37275254	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.996817299531015	0.91
18	34855218	T	A	18	37275255	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0242876306377028	0.268
18	34855218	T	C	18	37275255	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.998328123493763	0.926
18	34855218	T	G	18	37275255	y	y	intronic	CELF4	.	.	ncRNA_intronic	ENSG00000267202	.	.	0.0385080532235719	0.266
18	34901758	G	A	18	37321795	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.103162333743105	0.23
18	34901758	G	C	18	37321795	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0616986671951031	0.178
18	34901758	G	T	18	37321795	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0881833091584282	0.206
18	34901759	C	A	18	37321796	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0510680131679228	0.144
18	34901759	C	G	18	37321796	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0490655563135225	0.106
18	34901759	C	T	18	37321796	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0686552711783614	0.202
18	34901760	C	A	18	37321797	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0464944058819325	0.226
18	34901760	C	G	18	37321797	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.352001113657619	0.59
18	34901760	C	T	18	37321797	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.48575560331901	0.424
18	34901761	C	A	18	37321798	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999972511134408	0.996
18	34901761	C	G	18	37321798	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999984383731129	0.98
18	34901761	C	T	18	37321798	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999970910024427	1.0
18	34901762	T	A	18	37321799	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999799007182802	0.958
18	34901762	T	C	18	37321799	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999799007182802	0.972
18	34901762	T	G	18	37321799	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.997416751382656	0.92
18	34901763	C	A	18	37321800	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999521590128399	0.832
18	34901763	C	G	18	37321800	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999593682792632	0.862
18	34901763	C	T	18	37321800	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00284854821994843	0.02
18	34901764	A	C	18	37321801	y	y	splicing	CELF4(NM_020180:exon4:c.448+2T>G;NM_001025088:exon4:c.448+2T>G;NM_001025087:exon4:c.448+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.448+2T>G;ENST00000420428:exon4:c.448+2T>G;ENST00000591287:exon4:c.448+2T>G;ENST00000361795:exon4:c.448+2T>G;ENST00000601019:exon4:c.448+2T>G;ENST00000603232:exon4:c.448+2T>G;ENST00000591282:exon4:c.448+2T>G;ENST00000589229:exon4:c.79+2T>G)	.	.	0.999993672935256	0.928
18	34901764	A	G	18	37321801	y	y	splicing	CELF4(NM_020180:exon4:c.448+2T>C;NM_001025088:exon4:c.448+2T>C;NM_001025087:exon4:c.448+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.448+2T>C;ENST00000420428:exon4:c.448+2T>C;ENST00000591287:exon4:c.448+2T>C;ENST00000361795:exon4:c.448+2T>C;ENST00000601019:exon4:c.448+2T>C;ENST00000603232:exon4:c.448+2T>C;ENST00000591282:exon4:c.448+2T>C;ENST00000589229:exon4:c.79+2T>C)	.	.	0.999959541454763	0.866
18	34901764	A	T	18	37321801	y	y	splicing	CELF4(NM_020180:exon4:c.448+2T>A;NM_001025088:exon4:c.448+2T>A;NM_001025087:exon4:c.448+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.448+2T>A;ENST00000420428:exon4:c.448+2T>A;ENST00000591287:exon4:c.448+2T>A;ENST00000361795:exon4:c.448+2T>A;ENST00000601019:exon4:c.448+2T>A;ENST00000603232:exon4:c.448+2T>A;ENST00000591282:exon4:c.448+2T>A;ENST00000589229:exon4:c.79+2T>A)	.	.	0.999993672935256	0.928
18	34901765	C	A	18	37321802	y	y	splicing	CELF4(NM_020180:exon4:c.448+1G>T;NM_001025088:exon4:c.448+1G>T;NM_001025087:exon4:c.448+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.448+1G>T;ENST00000420428:exon4:c.448+1G>T;ENST00000591287:exon4:c.448+1G>T;ENST00000361795:exon4:c.448+1G>T;ENST00000601019:exon4:c.448+1G>T;ENST00000603232:exon4:c.448+1G>T;ENST00000591282:exon4:c.448+1G>T;ENST00000589229:exon4:c.79+1G>T)	.	.	0.999988247793601	0.928
18	34901765	C	G	18	37321802	y	y	splicing	CELF4(NM_020180:exon4:c.448+1G>C;NM_001025088:exon4:c.448+1G>C;NM_001025087:exon4:c.448+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.448+1G>C;ENST00000420428:exon4:c.448+1G>C;ENST00000591287:exon4:c.448+1G>C;ENST00000361795:exon4:c.448+1G>C;ENST00000601019:exon4:c.448+1G>C;ENST00000603232:exon4:c.448+1G>C;ENST00000591282:exon4:c.448+1G>C;ENST00000589229:exon4:c.79+1G>C)	.	.	0.999988247793601	0.928
18	34901765	C	T	18	37321802	y	y	splicing	CELF4(NM_020180:exon4:c.448+1G>A;NM_001025088:exon4:c.448+1G>A;NM_001025087:exon4:c.448+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.448+1G>A;ENST00000420428:exon4:c.448+1G>A;ENST00000591287:exon4:c.448+1G>A;ENST00000361795:exon4:c.448+1G>A;ENST00000601019:exon4:c.448+1G>A;ENST00000603232:exon4:c.448+1G>A;ENST00000591282:exon4:c.448+1G>A;ENST00000589229:exon4:c.79+1G>A)	.	.	0.999988247793601	0.928
18	34901766	G	A	18	37321803	y	y	exonic	CELF4	stopgain SNV	CELF4:NM_001025087:exon3:c.C448T:p.Q150X;CELF4:NM_020180:exon3:c.C448T:p.Q150X;	exonic	ENSG00000101489	stopgain SNV	ENSG00000101489:ENST00000591282:exon3:c.C448T:p.Q150X;ENSG00000101489:ENST00000412753:exon3:c.C448T:p.Q150X;ENSG00000101489:ENST00000589229:exon3:c.C79T:p.Q27X;ENSG00000101489:ENST00000603232:exon3:c.C448T:p.Q150X;ENSG00000101489:ENST00000420428:exon3:c.C448T:p.Q150X;	0.992155827407243	0.784
18	34901766	G	C	18	37321803	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon3:c.C448G:p.Q150E;CELF4:NM_001025088:exon3:c.C448G:p.H150D;CELF4:NM_020180:exon3:c.C448G:p.Q150E;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000601019:exon3:c.C448G:p.H150D;ENSG00000101489:ENST00000591282:exon3:c.C448G:p.Q150E;ENSG00000101489:ENST00000412753:exon3:c.C448G:p.Q150E;ENSG00000101489:ENST00000591287:exon3:c.C448G:p.H150D;ENSG00000101489:ENST00000589229:exon3:c.C79G:p.Q27E;ENSG00000101489:ENST00000603232:exon3:c.C448G:p.Q150E;ENSG00000101489:ENST00000420428:exon3:c.C448G:p.Q150E;ENSG00000101489:ENST00000361795:exon3:c.C448G:p.H150D;	4.39777472058799E-4	0.174
18	34901766	G	T	18	37321803	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon3:c.C448A:p.Q150K;CELF4:NM_001025088:exon3:c.C448A:p.H150N;CELF4:NM_020180:exon3:c.C448A:p.Q150K;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000601019:exon3:c.C448A:p.H150N;ENSG00000101489:ENST00000591282:exon3:c.C448A:p.Q150K;ENSG00000101489:ENST00000412753:exon3:c.C448A:p.Q150K;ENSG00000101489:ENST00000591287:exon3:c.C448A:p.H150N;ENSG00000101489:ENST00000589229:exon3:c.C79A:p.Q27K;ENSG00000101489:ENST00000603232:exon3:c.C448A:p.Q150K;ENSG00000101489:ENST00000420428:exon3:c.C448A:p.Q150K;ENSG00000101489:ENST00000361795:exon3:c.C448A:p.H150N;	0.900481270387084	0.546
18	34901767	T	A	18	37321804	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025087:exon3:c.A447T:p.S149S;CELF4:NM_001025088:exon3:c.A447T:p.S149S;CELF4:NM_020180:exon3:c.A447T:p.S149S;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000601019:exon3:c.A447T:p.S149S;ENSG00000101489:ENST00000591282:exon3:c.A447T:p.S149S;ENSG00000101489:ENST00000412753:exon3:c.A447T:p.S149S;ENSG00000101489:ENST00000591287:exon3:c.A447T:p.S149S;ENSG00000101489:ENST00000589229:exon3:c.A78T:p.S26S;ENSG00000101489:ENST00000603232:exon3:c.A447T:p.S149S;ENSG00000101489:ENST00000420428:exon3:c.A447T:p.S149S;ENSG00000101489:ENST00000361795:exon3:c.A447T:p.S149S;	0.999232538918325	0.98
18	34901767	T	C	18	37321804	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025087:exon3:c.A447G:p.S149S;CELF4:NM_001025088:exon3:c.A447G:p.S149S;CELF4:NM_020180:exon3:c.A447G:p.S149S;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000601019:exon3:c.A447G:p.S149S;ENSG00000101489:ENST00000591282:exon3:c.A447G:p.S149S;ENSG00000101489:ENST00000412753:exon3:c.A447G:p.S149S;ENSG00000101489:ENST00000591287:exon3:c.A447G:p.S149S;ENSG00000101489:ENST00000589229:exon3:c.A78G:p.S26S;ENSG00000101489:ENST00000603232:exon3:c.A447G:p.S149S;ENSG00000101489:ENST00000420428:exon3:c.A447G:p.S149S;ENSG00000101489:ENST00000361795:exon3:c.A447G:p.S149S;	0.998911608361674	0.984
18	34901767	T	G	18	37321804	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025087:exon3:c.A447C:p.S149S;CELF4:NM_001025088:exon3:c.A447C:p.S149S;CELF4:NM_020180:exon3:c.A447C:p.S149S;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000601019:exon3:c.A447C:p.S149S;ENSG00000101489:ENST00000591282:exon3:c.A447C:p.S149S;ENSG00000101489:ENST00000412753:exon3:c.A447C:p.S149S;ENSG00000101489:ENST00000591287:exon3:c.A447C:p.S149S;ENSG00000101489:ENST00000589229:exon3:c.A78C:p.S26S;ENSG00000101489:ENST00000603232:exon3:c.A447C:p.S149S;ENSG00000101489:ENST00000420428:exon3:c.A447C:p.S149S;ENSG00000101489:ENST00000361795:exon3:c.A447C:p.S149S;	0.999359990092356	0.99
18	34901768	G	A	18	37321805	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025087:exon3:c.C446T:p.S149L;CELF4:NM_001025088:exon3:c.C446T:p.S149L;CELF4:NM_020180:exon3:c.C446T:p.S149L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000601019:exon3:c.C446T:p.S149L;ENSG00000101489:ENST00000591282:exon3:c.C446T:p.S149L;ENSG00000101489:ENST00000412753:exon3:c.C446T:p.S149L;ENSG00000101489:ENST00000591287:exon3:c.C446T:p.S149L;ENSG00000101489:ENST00000589229:exon3:c.C77T:p.S26L;ENSG00000101489:ENST00000603232:exon3:c.C446T:p.S149L;ENSG00000101489:ENST00000420428:exon3:c.C446T:p.S149L;ENSG00000101489:ENST00000361795:exon3:c.C446T:p.S149L;	0.999258362782947	0.934
18	34901768	G	C	18	37321805	y	y	exonic	CELF4	stopgain SNV	CELF4:NM_001025087:exon3:c.C446G:p.S149X;CELF4:NM_001025088:exon3:c.C446G:p.S149X;CELF4:NM_020180:exon3:c.C446G:p.S149X;	exonic	ENSG00000101489	stopgain SNV	ENSG00000101489:ENST00000601019:exon3:c.C446G:p.S149X;ENSG00000101489:ENST00000591282:exon3:c.C446G:p.S149X;ENSG00000101489:ENST00000412753:exon3:c.C446G:p.S149X;ENSG00000101489:ENST00000591287:exon3:c.C446G:p.S149X;ENSG00000101489:ENST00000589229:exon3:c.C77G:p.S26X;ENSG00000101489:ENST00000603232:exon3:c.C446G:p.S149X;ENSG00000101489:ENST00000420428:exon3:c.C446G:p.S149X;ENSG00000101489:ENST00000361795:exon3:c.C446G:p.S149X;	0.887126637584478	0.616
18	34901768	G	T	18	37321805	y	y	exonic	CELF4	stopgain SNV	CELF4:NM_001025087:exon3:c.C446A:p.S149X;CELF4:NM_001025088:exon3:c.C446A:p.S149X;CELF4:NM_020180:exon3:c.C446A:p.S149X;	exonic	ENSG00000101489	stopgain SNV	ENSG00000101489:ENST00000601019:exon3:c.C446A:p.S149X;ENSG00000101489:ENST00000591282:exon3:c.C446A:p.S149X;ENSG00000101489:ENST00000412753:exon3:c.C446A:p.S149X;ENSG00000101489:ENST00000591287:exon3:c.C446A:p.S149X;ENSG00000101489:ENST00000589229:exon3:c.C77A:p.S26X;ENSG00000101489:ENST00000603232:exon3:c.C446A:p.S149X;ENSG00000101489:ENST00000420428:exon3:c.C446A:p.S149X;ENSG00000101489:ENST00000361795:exon3:c.C446A:p.S149X;	0.827777176170306	0.756
18	34901843	A	C	18	37321880	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon3:c.T371G:p.M124R;CELF4:NM_001025087:exon3:c.T371G:p.M124R;CELF4:NM_001025088:exon3:c.T371G:p.M124R;CELF4:NM_020180:exon3:c.T371G:p.M124R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000588597:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000601019:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000591282:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000412753:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000591287:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000601392:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000590112:exon2:c.T2G:p.M1R;ENSG00000101489:ENST00000589229:exon3:c.T2G:p.M1R;ENSG00000101489:ENST00000603232:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000587819:exon3:c.T2G:p.M1R;ENSG00000101489:ENST00000420428:exon3:c.T371G:p.M124R;ENSG00000101489:ENST00000587924:exon3:c.T2G:p.M1R;ENSG00000101489:ENST00000361795:exon3:c.T371G:p.M124R;	0.125529374496202	0.416
18	34901843	A	G	18	37321880	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon3:c.T371C:p.M124T;CELF4:NM_001025087:exon3:c.T371C:p.M124T;CELF4:NM_001025088:exon3:c.T371C:p.M124T;CELF4:NM_020180:exon3:c.T371C:p.M124T;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000588597:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000601019:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000591282:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000412753:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000591287:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000601392:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000590112:exon2:c.T2C:p.M1T;ENSG00000101489:ENST00000589229:exon3:c.T2C:p.M1T;ENSG00000101489:ENST00000603232:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000587819:exon3:c.T2C:p.M1T;ENSG00000101489:ENST00000420428:exon3:c.T371C:p.M124T;ENSG00000101489:ENST00000587924:exon3:c.T2C:p.M1T;ENSG00000101489:ENST00000361795:exon3:c.T371C:p.M124T;	0.12572731570452	0.408
18	34901843	A	T	18	37321880	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon3:c.T371A:p.M124K;CELF4:NM_001025087:exon3:c.T371A:p.M124K;CELF4:NM_001025088:exon3:c.T371A:p.M124K;CELF4:NM_020180:exon3:c.T371A:p.M124K;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000588597:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000601019:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000591282:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000412753:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000591287:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000601392:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000590112:exon2:c.T2A:p.M1K;ENSG00000101489:ENST00000589229:exon3:c.T2A:p.M1K;ENSG00000101489:ENST00000603232:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000587819:exon3:c.T2A:p.M1K;ENSG00000101489:ENST00000420428:exon3:c.T371A:p.M124K;ENSG00000101489:ENST00000587924:exon3:c.T2A:p.M1K;ENSG00000101489:ENST00000361795:exon3:c.T371A:p.M124K;	0.135895084623866	0.504
18	34901844	T	A	18	37321881	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon3:c.A370T:p.M124L;CELF4:NM_001025087:exon3:c.A370T:p.M124L;CELF4:NM_001025088:exon3:c.A370T:p.M124L;CELF4:NM_020180:exon3:c.A370T:p.M124L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000588597:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000601019:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000591282:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000412753:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000591287:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000601392:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000590112:exon2:c.A1T:p.M1L;ENSG00000101489:ENST00000589229:exon3:c.A1T:p.M1L;ENSG00000101489:ENST00000603232:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000587819:exon3:c.A1T:p.M1L;ENSG00000101489:ENST00000420428:exon3:c.A370T:p.M124L;ENSG00000101489:ENST00000587924:exon3:c.A1T:p.M1L;ENSG00000101489:ENST00000361795:exon3:c.A370T:p.M124L;	0.131155775762525	0.464
18	34901844	T	C	18	37321881	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon3:c.A370G:p.M124V;CELF4:NM_001025087:exon3:c.A370G:p.M124V;CELF4:NM_001025088:exon3:c.A370G:p.M124V;CELF4:NM_020180:exon3:c.A370G:p.M124V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000588597:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000601019:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000591282:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000412753:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000591287:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000601392:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000590112:exon2:c.A1G:p.M1V;ENSG00000101489:ENST00000589229:exon3:c.A1G:p.M1V;ENSG00000101489:ENST00000603232:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000587819:exon3:c.A1G:p.M1V;ENSG00000101489:ENST00000420428:exon3:c.A370G:p.M124V;ENSG00000101489:ENST00000587924:exon3:c.A1G:p.M1V;ENSG00000101489:ENST00000361795:exon3:c.A370G:p.M124V;	0.149980223504857	0.486
18	34901844	T	G	18	37321881	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon3:c.A370C:p.M124L;CELF4:NM_001025087:exon3:c.A370C:p.M124L;CELF4:NM_001025088:exon3:c.A370C:p.M124L;CELF4:NM_020180:exon3:c.A370C:p.M124L;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000588597:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000601019:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000591282:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000412753:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000591287:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000601392:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000590112:exon2:c.A1C:p.M1L;ENSG00000101489:ENST00000589229:exon3:c.A1C:p.M1L;ENSG00000101489:ENST00000603232:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000587819:exon3:c.A1C:p.M1L;ENSG00000101489:ENST00000420428:exon3:c.A370C:p.M124L;ENSG00000101489:ENST00000587924:exon3:c.A1C:p.M1L;ENSG00000101489:ENST00000361795:exon3:c.A370C:p.M124L;	0.101123181728549	0.488
18	34901845	C	A	18	37321882	y	y	splicing	CELF4(NM_001025089:exon4:c.370-1G>T;NM_020180:exon4:c.370-1G>T;NM_001025088:exon4:c.370-1G>T;NM_001025087:exon4:c.370-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.370-1G>T;ENST00000420428:exon4:c.370-1G>T;ENST00000591287:exon4:c.370-1G>T;ENST00000334919:exon4:c.370-1G>T;ENST00000361795:exon4:c.370-1G>T;ENST00000601019:exon4:c.370-1G>T;ENST00000603232:exon4:c.370-1G>T;ENST00000591282:exon4:c.370-1G>T;ENST00000588597:exon4:c.370-1G>T;ENST00000601392:exon4:c.370-1G>T)	.	.	0.999988247793601	0.932
18	34901845	C	G	18	37321882	y	y	splicing	CELF4(NM_001025089:exon4:c.370-1G>C;NM_020180:exon4:c.370-1G>C;NM_001025088:exon4:c.370-1G>C;NM_001025087:exon4:c.370-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.370-1G>C;ENST00000420428:exon4:c.370-1G>C;ENST00000591287:exon4:c.370-1G>C;ENST00000334919:exon4:c.370-1G>C;ENST00000361795:exon4:c.370-1G>C;ENST00000601019:exon4:c.370-1G>C;ENST00000603232:exon4:c.370-1G>C;ENST00000591282:exon4:c.370-1G>C;ENST00000588597:exon4:c.370-1G>C;ENST00000601392:exon4:c.370-1G>C)	.	.	0.999988247793601	0.932
18	34901845	C	T	18	37321882	y	y	splicing	CELF4(NM_001025089:exon4:c.370-1G>A;NM_020180:exon4:c.370-1G>A;NM_001025088:exon4:c.370-1G>A;NM_001025087:exon4:c.370-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.370-1G>A;ENST00000420428:exon4:c.370-1G>A;ENST00000591287:exon4:c.370-1G>A;ENST00000334919:exon4:c.370-1G>A;ENST00000361795:exon4:c.370-1G>A;ENST00000601019:exon4:c.370-1G>A;ENST00000603232:exon4:c.370-1G>A;ENST00000591282:exon4:c.370-1G>A;ENST00000588597:exon4:c.370-1G>A;ENST00000601392:exon4:c.370-1G>A)	.	.	0.999988247793601	0.932
18	34901846	T	A	18	37321883	y	y	splicing	CELF4(NM_001025089:exon4:c.370-2A>T;NM_020180:exon4:c.370-2A>T;NM_001025088:exon4:c.370-2A>T;NM_001025087:exon4:c.370-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.370-2A>T;ENST00000420428:exon4:c.370-2A>T;ENST00000591287:exon4:c.370-2A>T;ENST00000334919:exon4:c.370-2A>T;ENST00000361795:exon4:c.370-2A>T;ENST00000601019:exon4:c.370-2A>T;ENST00000603232:exon4:c.370-2A>T;ENST00000591282:exon4:c.370-2A>T;ENST00000588597:exon4:c.370-2A>T;ENST00000601392:exon4:c.370-2A>T)	.	.	0.999993519952936	0.928
18	34901846	T	C	18	37321883	y	y	splicing	CELF4(NM_001025089:exon4:c.370-2A>G;NM_020180:exon4:c.370-2A>G;NM_001025088:exon4:c.370-2A>G;NM_001025087:exon4:c.370-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.370-2A>G;ENST00000420428:exon4:c.370-2A>G;ENST00000591287:exon4:c.370-2A>G;ENST00000334919:exon4:c.370-2A>G;ENST00000361795:exon4:c.370-2A>G;ENST00000601019:exon4:c.370-2A>G;ENST00000603232:exon4:c.370-2A>G;ENST00000591282:exon4:c.370-2A>G;ENST00000588597:exon4:c.370-2A>G;ENST00000601392:exon4:c.370-2A>G)	.	.	0.999993519952936	0.928
18	34901846	T	G	18	37321883	y	y	splicing	CELF4(NM_001025089:exon4:c.370-2A>C;NM_020180:exon4:c.370-2A>C;NM_001025088:exon4:c.370-2A>C;NM_001025087:exon4:c.370-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon4:c.370-2A>C;ENST00000420428:exon4:c.370-2A>C;ENST00000591287:exon4:c.370-2A>C;ENST00000334919:exon4:c.370-2A>C;ENST00000361795:exon4:c.370-2A>C;ENST00000601019:exon4:c.370-2A>C;ENST00000603232:exon4:c.370-2A>C;ENST00000591282:exon4:c.370-2A>C;ENST00000588597:exon4:c.370-2A>C;ENST00000601392:exon4:c.370-2A>C)	.	.	0.999993519952936	0.928
18	34901847	G	A	18	37321884	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.980114401937524	0.372
18	34901847	G	C	18	37321884	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999944128931362	0.984
18	34901847	G	T	18	37321884	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999524225191766	0.954
18	34901848	C	A	18	37321885	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.74451039670171E-4	0.0
18	34901848	C	G	18	37321885	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.75696494582255E-4	0.0
18	34901848	C	T	18	37321885	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.10512561366239E-4	0.012
18	34901849	A	C	18	37321886	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.995886816213638	0.87
18	34901849	A	G	18	37321886	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.134593365632451	0.298
18	34901849	A	T	18	37321886	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999895212160348	0.962
18	34901850	A	C	18	37321887	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.992765429341022	0.692
18	34901850	A	G	18	37321887	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0652495616320385	0.478
18	34901850	A	T	18	37321887	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.988815448834827	0.678
18	34901851	C	A	18	37321888	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.39595065563816E-4	0.0
18	34901851	C	G	18	37321888	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.55258986662198E-4	0.006
18	34901851	C	T	18	37321888	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00121364084449578	0.01
18	34901852	A	C	18	37321889	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.540175696580427	0.512
18	34901852	A	G	18	37321889	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00337457163068595	0.068
18	34901852	A	T	18	37321889	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999548566735233	0.932
18	34901853	G	A	18	37321890	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.80909699827178E-5	0.068
18	34901853	G	C	18	37321890	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.93633356263029E-5	0.038
18	34901853	G	T	18	37321890	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.99142831165475E-4	0.064
18	34901854	A	C	18	37321891	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.993934982771759	0.778
18	34901854	A	G	18	37321891	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0893161245267632	0.376
18	34901854	A	T	18	37321891	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.998172997342905	0.854
18	34901855	G	A	18	37321892	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00155288854220354	0.094
18	34901855	G	C	18	37321892	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0069500167821399	0.048
18	34901855	G	T	18	37321892	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0183677584960849	0.106
18	34901856	C	A	18	37321893	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.12150511604671E-4	0.0
18	34901856	C	G	18	37321893	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.62214804521589E-4	0.002
18	34901856	C	T	18	37321893	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00106337663723723	0.018
18	35065480	C	A	18	37485517	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.12481359652149E-4	0.108
18	35065480	C	G	18	37485517	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.12481359652149E-4	0.116
18	35065480	C	T	18	37485517	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.13697265964844E-4	0.11
18	35065481	C	A	18	37485518	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00294682849973155	0.022
18	35065481	C	G	18	37485518	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00448477018741401	0.022
18	35065481	C	T	18	37485518	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00602932920719016	0.026
18	35065482	A	C	18	37485519	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.835387587960001	0.472
18	35065482	A	G	18	37485519	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.903812022925366	0.542
18	35065482	A	T	18	37485519	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.869171706443636	0.51
18	35065483	C	A	18	37485520	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999386233786401	0.752
18	35065483	C	G	18	37485520	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999067819482638	0.894
18	35065483	C	T	18	37485520	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999262444219896	0.89
18	35065484	T	A	18	37485521	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.998494122240645	0.844
18	35065484	T	C	18	37485521	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.998415619328719	0.852
18	35065484	T	G	18	37485521	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.994623754741169	0.816
18	35065485	T	A	18	37485522	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.999349608603353	0.918
18	35065485	T	C	18	37485522	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.574231374419381	0.424
18	35065485	T	G	18	37485522	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.998814560329771	0.93
18	35065486	A	C	18	37485523	y	y	splicing	CELF4(NM_001025089:exon3:c.369+2T>G;NM_020180:exon3:c.369+2T>G;NM_001025088:exon3:c.369+2T>G;NM_001025087:exon3:c.369+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.369+2T>G;ENST00000420428:exon3:c.369+2T>G;ENST00000591287:exon3:c.369+2T>G;ENST00000334919:exon3:c.369+2T>G;ENST00000361795:exon3:c.369+2T>G;ENST00000601019:exon3:c.369+2T>G;ENST00000603232:exon3:c.369+2T>G;ENST00000591282:exon3:c.369+2T>G;ENST00000588597:exon3:c.369+2T>G;ENST00000601392:exon3:c.369+2T>G)	.	.	0.999994723900236	0.93
18	35065486	A	G	18	37485523	y	y	splicing	CELF4(NM_001025089:exon3:c.369+2T>C;NM_020180:exon3:c.369+2T>C;NM_001025088:exon3:c.369+2T>C;NM_001025087:exon3:c.369+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.369+2T>C;ENST00000420428:exon3:c.369+2T>C;ENST00000591287:exon3:c.369+2T>C;ENST00000334919:exon3:c.369+2T>C;ENST00000361795:exon3:c.369+2T>C;ENST00000601019:exon3:c.369+2T>C;ENST00000603232:exon3:c.369+2T>C;ENST00000591282:exon3:c.369+2T>C;ENST00000588597:exon3:c.369+2T>C;ENST00000601392:exon3:c.369+2T>C)	.	.	0.988053075255451	0.582
18	35065486	A	T	18	37485523	y	y	splicing	CELF4(NM_001025089:exon3:c.369+2T>A;NM_020180:exon3:c.369+2T>A;NM_001025088:exon3:c.369+2T>A;NM_001025087:exon3:c.369+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.369+2T>A;ENST00000420428:exon3:c.369+2T>A;ENST00000591287:exon3:c.369+2T>A;ENST00000334919:exon3:c.369+2T>A;ENST00000361795:exon3:c.369+2T>A;ENST00000601019:exon3:c.369+2T>A;ENST00000603232:exon3:c.369+2T>A;ENST00000591282:exon3:c.369+2T>A;ENST00000588597:exon3:c.369+2T>A;ENST00000601392:exon3:c.369+2T>A)	.	.	0.999994723900236	0.93
18	35065487	C	A	18	37485524	y	y	splicing	CELF4(NM_001025089:exon3:c.369+1G>T;NM_020180:exon3:c.369+1G>T;NM_001025088:exon3:c.369+1G>T;NM_001025087:exon3:c.369+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.369+1G>T;ENST00000420428:exon3:c.369+1G>T;ENST00000591287:exon3:c.369+1G>T;ENST00000334919:exon3:c.369+1G>T;ENST00000361795:exon3:c.369+1G>T;ENST00000601019:exon3:c.369+1G>T;ENST00000603232:exon3:c.369+1G>T;ENST00000591282:exon3:c.369+1G>T;ENST00000588597:exon3:c.369+1G>T;ENST00000601392:exon3:c.369+1G>T)	.	.	0.999993672935256	0.93
18	35065487	C	G	18	37485524	y	y	splicing	CELF4(NM_001025089:exon3:c.369+1G>C;NM_020180:exon3:c.369+1G>C;NM_001025088:exon3:c.369+1G>C;NM_001025087:exon3:c.369+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.369+1G>C;ENST00000420428:exon3:c.369+1G>C;ENST00000591287:exon3:c.369+1G>C;ENST00000334919:exon3:c.369+1G>C;ENST00000361795:exon3:c.369+1G>C;ENST00000601019:exon3:c.369+1G>C;ENST00000603232:exon3:c.369+1G>C;ENST00000591282:exon3:c.369+1G>C;ENST00000588597:exon3:c.369+1G>C;ENST00000601392:exon3:c.369+1G>C)	.	.	0.999993672935256	0.93
18	35065487	C	T	18	37485524	y	y	splicing	CELF4(NM_001025089:exon3:c.369+1G>A;NM_020180:exon3:c.369+1G>A;NM_001025088:exon3:c.369+1G>A;NM_001025087:exon3:c.369+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.369+1G>A;ENST00000420428:exon3:c.369+1G>A;ENST00000591287:exon3:c.369+1G>A;ENST00000334919:exon3:c.369+1G>A;ENST00000361795:exon3:c.369+1G>A;ENST00000601019:exon3:c.369+1G>A;ENST00000603232:exon3:c.369+1G>A;ENST00000591282:exon3:c.369+1G>A;ENST00000588597:exon3:c.369+1G>A;ENST00000601392:exon3:c.369+1G>A)	.	.	0.999993672935256	0.93
18	35065488	C	A	18	37485525	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon2:c.G369T:p.G123G;CELF4:NM_001025087:exon2:c.G369T:p.G123G;CELF4:NM_001025088:exon2:c.G369T:p.G123G;CELF4:NM_020180:exon2:c.G369T:p.G123G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000588597:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000601019:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000591282:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000412753:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000591287:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000601392:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000603232:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000420428:exon2:c.G369T:p.G123G;ENSG00000101489:ENST00000361795:exon2:c.G369T:p.G123G;	0.999413353993107	0.958
18	35065488	C	G	18	37485525	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon2:c.G369C:p.G123G;CELF4:NM_001025087:exon2:c.G369C:p.G123G;CELF4:NM_001025088:exon2:c.G369C:p.G123G;CELF4:NM_020180:exon2:c.G369C:p.G123G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000588597:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000601019:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000591282:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000412753:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000591287:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000601392:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000603232:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000420428:exon2:c.G369C:p.G123G;ENSG00000101489:ENST00000361795:exon2:c.G369C:p.G123G;	0.999094302233527	0.926
18	35065488	C	T	18	37485525	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon2:c.G369A:p.G123G;CELF4:NM_001025087:exon2:c.G369A:p.G123G;CELF4:NM_001025088:exon2:c.G369A:p.G123G;CELF4:NM_020180:exon2:c.G369A:p.G123G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000588597:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000601019:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000591282:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000412753:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000591287:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000601392:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000603232:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000420428:exon2:c.G369A:p.G123G;ENSG00000101489:ENST00000361795:exon2:c.G369A:p.G123G;	0.997171960329423	0.958
18	35065489	C	A	18	37485526	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G368T:p.G123V;CELF4:NM_001025087:exon2:c.G368T:p.G123V;CELF4:NM_001025088:exon2:c.G368T:p.G123V;CELF4:NM_020180:exon2:c.G368T:p.G123V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000588597:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000601019:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000591282:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000412753:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000591287:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000601392:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000603232:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000420428:exon2:c.G368T:p.G123V;ENSG00000101489:ENST00000361795:exon2:c.G368T:p.G123V;	0.560512411036237	0.642
18	35065489	C	G	18	37485526	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G368C:p.G123A;CELF4:NM_001025087:exon2:c.G368C:p.G123A;CELF4:NM_001025088:exon2:c.G368C:p.G123A;CELF4:NM_020180:exon2:c.G368C:p.G123A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000588597:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000601019:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000591282:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000412753:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000591287:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000601392:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000603232:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000420428:exon2:c.G368C:p.G123A;ENSG00000101489:ENST00000361795:exon2:c.G368C:p.G123A;	0.719773044586548	0.748
18	35065489	C	T	18	37485526	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G368A:p.G123E;CELF4:NM_001025087:exon2:c.G368A:p.G123E;CELF4:NM_001025088:exon2:c.G368A:p.G123E;CELF4:NM_020180:exon2:c.G368A:p.G123E;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000588597:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000601019:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000591282:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000412753:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000591287:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000601392:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000603232:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000420428:exon2:c.G368A:p.G123E;ENSG00000101489:ENST00000361795:exon2:c.G368A:p.G123E;	0.616760292012258	0.59
18	35065490	C	A	18	37485527	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G367T:p.G123W;CELF4:NM_001025087:exon2:c.G367T:p.G123W;CELF4:NM_001025088:exon2:c.G367T:p.G123W;CELF4:NM_020180:exon2:c.G367T:p.G123W;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000588597:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000601019:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000591282:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000412753:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000591287:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000601392:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000603232:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000420428:exon2:c.G367T:p.G123W;ENSG00000101489:ENST00000361795:exon2:c.G367T:p.G123W;	0.748587022274145	0.728
18	35065490	C	G	18	37485527	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G367C:p.G123R;CELF4:NM_001025087:exon2:c.G367C:p.G123R;CELF4:NM_001025088:exon2:c.G367C:p.G123R;CELF4:NM_020180:exon2:c.G367C:p.G123R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000588597:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000601019:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000591282:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000412753:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000591287:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000601392:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000603232:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000420428:exon2:c.G367C:p.G123R;ENSG00000101489:ENST00000361795:exon2:c.G367C:p.G123R;	0.473369256542737	0.69
18	35065490	C	T	18	37485527	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G367A:p.G123R;CELF4:NM_001025087:exon2:c.G367A:p.G123R;CELF4:NM_001025088:exon2:c.G367A:p.G123R;CELF4:NM_020180:exon2:c.G367A:p.G123R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000588597:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000601019:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000591282:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000412753:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000591287:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000601392:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000603232:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000420428:exon2:c.G367A:p.G123R;ENSG00000101489:ENST00000361795:exon2:c.G367A:p.G123R;	0.425151498336992	0.726
18	35065569	G	A	18	37485606	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon2:c.C288T:p.G96G;CELF4:NM_001025087:exon2:c.C288T:p.G96G;CELF4:NM_001025088:exon2:c.C288T:p.G96G;CELF4:NM_020180:exon2:c.C288T:p.G96G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000588597:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000601019:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000591282:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000412753:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000591287:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000601392:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000603232:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000420428:exon2:c.C288T:p.G96G;ENSG00000101489:ENST00000361795:exon2:c.C288T:p.G96G;	0.0164921346817618	0.314
18	35065569	G	C	18	37485606	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon2:c.C288G:p.G96G;CELF4:NM_001025087:exon2:c.C288G:p.G96G;CELF4:NM_001025088:exon2:c.C288G:p.G96G;CELF4:NM_020180:exon2:c.C288G:p.G96G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000588597:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000601019:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000591282:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000412753:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000591287:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000601392:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000603232:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000420428:exon2:c.C288G:p.G96G;ENSG00000101489:ENST00000361795:exon2:c.C288G:p.G96G;	0.0269225490204924	0.154
18	35065569	G	T	18	37485606	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon2:c.C288A:p.G96G;CELF4:NM_001025087:exon2:c.C288A:p.G96G;CELF4:NM_001025088:exon2:c.C288A:p.G96G;CELF4:NM_020180:exon2:c.C288A:p.G96G;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000588597:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000601019:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000591282:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000412753:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000591287:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000601392:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000603232:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000420428:exon2:c.C288A:p.G96G;ENSG00000101489:ENST00000361795:exon2:c.C288A:p.G96G;	0.0251573007428338	0.228
18	35065570	C	A	18	37485607	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G287T:p.G96V;CELF4:NM_001025087:exon2:c.G287T:p.G96V;CELF4:NM_001025088:exon2:c.G287T:p.G96V;CELF4:NM_020180:exon2:c.G287T:p.G96V;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000588597:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000601019:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000591282:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000412753:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000591287:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000601392:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000603232:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000420428:exon2:c.G287T:p.G96V;ENSG00000101489:ENST00000361795:exon2:c.G287T:p.G96V;	0.997533004003581	0.884
18	35065570	C	G	18	37485607	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G287C:p.G96A;CELF4:NM_001025087:exon2:c.G287C:p.G96A;CELF4:NM_001025088:exon2:c.G287C:p.G96A;CELF4:NM_020180:exon2:c.G287C:p.G96A;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000588597:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000601019:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000591282:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000412753:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000591287:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000601392:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000603232:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000420428:exon2:c.G287C:p.G96A;ENSG00000101489:ENST00000361795:exon2:c.G287C:p.G96A;	0.997575549947941	0.9
18	35065570	C	T	18	37485607	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon2:c.G287A:p.G96D;CELF4:NM_001025087:exon2:c.G287A:p.G96D;CELF4:NM_001025088:exon2:c.G287A:p.G96D;CELF4:NM_020180:exon2:c.G287A:p.G96D;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000588597:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000601019:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000591282:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000412753:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000591287:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000601392:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000603232:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000420428:exon2:c.G287A:p.G96D;ENSG00000101489:ENST00000361795:exon2:c.G287A:p.G96D;	0.793674455472196	0.548
18	35065571	C	A	18	37485608	y	y	splicing	CELF4(NM_001025089:exon3:c.287-1G>T;NM_020180:exon3:c.287-1G>T;NM_001025088:exon3:c.287-1G>T;NM_001025087:exon3:c.287-1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.287-1G>T;ENST00000420428:exon3:c.287-1G>T;ENST00000591287:exon3:c.287-1G>T;ENST00000334919:exon3:c.287-1G>T;ENST00000361795:exon3:c.287-1G>T;ENST00000601019:exon3:c.287-1G>T;ENST00000603232:exon3:c.287-1G>T;ENST00000591282:exon3:c.287-1G>T;ENST00000588597:exon3:c.287-1G>T;ENST00000601392:exon3:c.287-1G>T)	.	.	0.999993672935256	0.93
18	35065571	C	G	18	37485608	y	y	splicing	CELF4(NM_001025089:exon3:c.287-1G>C;NM_020180:exon3:c.287-1G>C;NM_001025088:exon3:c.287-1G>C;NM_001025087:exon3:c.287-1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.287-1G>C;ENST00000420428:exon3:c.287-1G>C;ENST00000591287:exon3:c.287-1G>C;ENST00000334919:exon3:c.287-1G>C;ENST00000361795:exon3:c.287-1G>C;ENST00000601019:exon3:c.287-1G>C;ENST00000603232:exon3:c.287-1G>C;ENST00000591282:exon3:c.287-1G>C;ENST00000588597:exon3:c.287-1G>C;ENST00000601392:exon3:c.287-1G>C)	.	.	0.999993672935256	0.93
18	35065571	C	T	18	37485608	y	y	splicing	CELF4(NM_001025089:exon3:c.287-1G>A;NM_020180:exon3:c.287-1G>A;NM_001025088:exon3:c.287-1G>A;NM_001025087:exon3:c.287-1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.287-1G>A;ENST00000420428:exon3:c.287-1G>A;ENST00000591287:exon3:c.287-1G>A;ENST00000334919:exon3:c.287-1G>A;ENST00000361795:exon3:c.287-1G>A;ENST00000601019:exon3:c.287-1G>A;ENST00000603232:exon3:c.287-1G>A;ENST00000591282:exon3:c.287-1G>A;ENST00000588597:exon3:c.287-1G>A;ENST00000601392:exon3:c.287-1G>A)	.	.	0.999993672935256	0.93
18	35065572	T	A	18	37485609	y	y	splicing	CELF4(NM_001025089:exon3:c.287-2A>T;NM_020180:exon3:c.287-2A>T;NM_001025088:exon3:c.287-2A>T;NM_001025087:exon3:c.287-2A>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.287-2A>T;ENST00000420428:exon3:c.287-2A>T;ENST00000591287:exon3:c.287-2A>T;ENST00000334919:exon3:c.287-2A>T;ENST00000361795:exon3:c.287-2A>T;ENST00000601019:exon3:c.287-2A>T;ENST00000603232:exon3:c.287-2A>T;ENST00000591282:exon3:c.287-2A>T;ENST00000588597:exon3:c.287-2A>T;ENST00000601392:exon3:c.287-2A>T)	.	.	0.999994723900236	0.928
18	35065572	T	C	18	37485609	y	y	splicing	CELF4(NM_001025089:exon3:c.287-2A>G;NM_020180:exon3:c.287-2A>G;NM_001025088:exon3:c.287-2A>G;NM_001025087:exon3:c.287-2A>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.287-2A>G;ENST00000420428:exon3:c.287-2A>G;ENST00000591287:exon3:c.287-2A>G;ENST00000334919:exon3:c.287-2A>G;ENST00000361795:exon3:c.287-2A>G;ENST00000601019:exon3:c.287-2A>G;ENST00000603232:exon3:c.287-2A>G;ENST00000591282:exon3:c.287-2A>G;ENST00000588597:exon3:c.287-2A>G;ENST00000601392:exon3:c.287-2A>G)	.	.	0.999994723900236	0.928
18	35065572	T	G	18	37485609	y	y	splicing	CELF4(NM_001025089:exon3:c.287-2A>C;NM_020180:exon3:c.287-2A>C;NM_001025088:exon3:c.287-2A>C;NM_001025087:exon3:c.287-2A>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon3:c.287-2A>C;ENST00000420428:exon3:c.287-2A>C;ENST00000591287:exon3:c.287-2A>C;ENST00000334919:exon3:c.287-2A>C;ENST00000361795:exon3:c.287-2A>C;ENST00000601019:exon3:c.287-2A>C;ENST00000603232:exon3:c.287-2A>C;ENST00000591282:exon3:c.287-2A>C;ENST00000588597:exon3:c.287-2A>C;ENST00000601392:exon3:c.287-2A>C)	.	.	0.999994723900236	0.928
18	35065573	G	A	18	37485610	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00850217497361013	0.088
18	35065573	G	C	18	37485610	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.995688043247314	0.806
18	35065573	G	T	18	37485610	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.918773932495056	0.392
18	35065574	G	A	18	37485611	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.19637925460521E-4	0.002
18	35065574	G	C	18	37485611	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.98303272720666E-4	0.002
18	35065574	G	T	18	37485611	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.37895589814428E-4	0.012
18	35065575	G	A	18	37485612	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.96115895179265E-4	0.006
18	35065575	G	C	18	37485612	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0110024783032367	0.15
18	35065575	G	T	18	37485612	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0121553966979614	0.198
18	35065576	G	A	18	37485613	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.68046777587235E-4	0.036
18	35065576	G	C	18	37485613	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00506405265339014	0.204
18	35065576	G	T	18	37485613	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00572119849045137	0.206
18	35065577	A	C	18	37485614	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.019280194675687	0.152
18	35065577	A	G	18	37485614	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.25177131062503E-4	0.062
18	35065577	A	T	18	37485614	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0353501060815984	0.16
18	35065578	G	A	18	37485615	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.68318450369981E-4	0.016
18	35065578	G	C	18	37485615	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.27057900460194E-4	0.106
18	35065578	G	T	18	37485615	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00149069523675556	0.132
18	35065579	G	A	18	37485616	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.03754178389566E-4	0.004
18	35065579	G	C	18	37485616	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00702667075654715	0.088
18	35065579	G	T	18	37485616	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00702667075654715	0.124
18	35065580	A	C	18	37485617	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.85425176309286E-4	0.078
18	35065580	A	G	18	37485617	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.53636320135264E-5	0.0
18	35065580	A	T	18	37485617	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.25466704334738E-4	0.072
18	35065581	A	C	18	37485618	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00127986951826941	0.122
18	35065581	A	G	18	37485618	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.78897436723357E-4	0.04
18	35065581	A	T	18	37485618	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00398122215542408	0.218
18	35065582	A	C	18	37485619	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0163453983595321	0.212
18	35065582	A	G	18	37485619	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00101666436389508	0.066
18	35065582	A	T	18	37485619	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0260870716276751	0.266
18	35065681	G	A	18	37485718	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.84767321715395E-5	0.0
18	35065681	G	C	18	37485718	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.6128894829304E-5	0.0
18	35065681	G	T	18	37485718	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.84767321715395E-5	0.0
18	35065682	T	A	18	37485719	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.1483700964636E-4	0.0
18	35065682	T	C	18	37485719	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.1483700964636E-4	0.0
18	35065682	T	G	18	37485719	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.1483700964636E-4	0.0
18	35065683	C	A	18	37485720	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.49918104310355E-4	0.01
18	35065683	C	G	18	37485720	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.49918104310355E-4	0.008
18	35065683	C	T	18	37485720	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.85789834433257E-4	0.02
18	35065684	C	A	18	37485721	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.1907338617234E-4	0.062
18	35065684	C	G	18	37485721	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.39730412643597E-4	0.088
18	35065684	C	T	18	37485721	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	2.79594190787174E-5	0.03
18	35065685	C	A	18	37485722	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.11017248087976E-4	0.014
18	35065685	C	G	18	37485722	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.11017248087976E-4	0.014
18	35065685	C	T	18	37485722	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.57144130061122E-4	0.02
18	35065686	C	A	18	37485723	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.313279908133253	0.662
18	35065686	C	G	18	37485723	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.156140923139245	0.554
18	35065686	C	T	18	37485723	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.2969585871408	0.624
18	35065687	A	C	18	37485724	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	0.00246951062688554	0.078
18	35065687	A	G	18	37485724	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	0.00246951062688554	0.08
18	35065687	A	T	18	37485724	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	0.0012674568917336	0.038
18	35065688	C	A	18	37485725	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	0.0590849221608818	0.394
18	35065688	C	G	18	37485725	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	0.0227371162827913	0.35
18	35065688	C	T	18	37485725	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	0.0590849221608818	0.402
18	35065689	C	A	18	37485726	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	0.0590849221608818	0.436
18	35065689	C	G	18	37485726	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	0.0590849221608818	0.396
18	35065689	C	T	18	37485726	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	0.112525249795805	0.474
18	35065690	T	A	18	37485727	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	2.0004636124456E-4	0.052
18	35065690	T	C	18	37485727	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	2.0004636124456E-4	0.086
18	35065690	T	G	18	37485727	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	2.0004636124456E-4	0.086
18	35065691	C	A	18	37485728	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	6.85789834433257E-4	0.074
18	35065691	C	G	18	37485728	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	6.85789834433257E-4	0.024
18	35065691	C	T	18	37485728	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	0.00126452339533103	0.086
18	35065945	C	A	18	37485982	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	9.71088654042677E-5	0.002
18	35065945	C	G	18	37485982	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.38603341338827E-4	0.002
18	35065945	C	T	18	37485982	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.13324429737708E-4	0.006
18	35065946	C	A	18	37485983	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.78801534976706E-5	0.0
18	35065946	C	G	18	37485983	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.33132576485227E-5	0.0
18	35065946	C	T	18	37485983	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.78801534976706E-5	0.0
18	35065947	C	A	18	37485984	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.78801534976706E-5	0.0
18	35065947	C	G	18	37485984	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.4327459350898E-5	0.0
18	35065947	C	T	18	37485984	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.78801534976706E-5	0.0
18	35065948	A	C	18	37485985	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.35428655471156E-5	0.002
18	35065948	A	G	18	37485985	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.35428655471156E-5	0.002
18	35065948	A	T	18	37485985	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.35428655471156E-5	0.002
18	35065949	G	A	18	37485986	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.17425266746205E-4	0.0
18	35065949	G	C	18	37485986	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	6.92297816354753E-5	0.0
18	35065949	G	T	18	37485986	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	1.17425266746205E-4	0.0
18	35065950	C	A	18	37485987	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.78801534976706E-5	0.0
18	35065950	C	G	18	37485987	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	3.33132576485227E-5	0.0
18	35065950	C	T	18	37485987	n	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	4.78801534976706E-5	0.0
18	35065951	A	C	18	37485988	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	9.3797186435366E-5	0.0
18	35065951	A	G	18	37485988	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	9.3797186435366E-5	0.0
18	35065951	A	T	18	37485988	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	1.53558845847488E-4	0.002
18	35065952	C	A	18	37485989	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	0.00108223164511831	0.006
18	35065952	C	G	18	37485989	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	6.06541812691775E-4	0.002
18	35065952	C	T	18	37485989	n	y	intronic	CELF4	.	.	splicing	ENSG00000101489	.	.	0.00106472840520139	0.004
18	35065953	C	A	18	37485990	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	9.68632724264029E-5	0.002
18	35065953	C	G	18	37485990	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	5.7106675465155E-5	0.0
18	35065953	C	T	18	37485990	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	9.68632724264029E-5	0.0
18	35065954	T	A	18	37485991	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	3.64431530690134E-4	0.016
18	35065954	T	C	18	37485991	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	3.64431530690134E-4	0.018
18	35065954	T	G	18	37485991	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	3.64431530690134E-4	0.018
18	35065955	C	A	18	37485992	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	6.36054613724236E-5	0.026
18	35065955	C	G	18	37485992	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	5.4663023071037E-5	0.026
18	35065955	C	T	18	37485992	n	y	intronic	CELF4	.	.	UTR5	ENSG00000101489	.	.	9.47073411157876E-5	0.026
18	35145311	G	A	18	37565348	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0114711912866896	0.058
18	35145311	G	C	18	37565348	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0102710791138927	0.054
18	35145311	G	T	18	37565348	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0102710791138927	0.05
18	35145312	T	A	18	37565349	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	8.23340834694395E-4	0.114
18	35145312	T	C	18	37565349	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	7.78756899333717E-4	0.116
18	35145312	T	G	18	37565349	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	5.40955005894789E-4	0.108
18	35145313	A	C	18	37565350	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00731151453131149	0.248
18	35145313	A	G	18	37565350	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.0251421785537982	0.266
18	35145313	A	T	18	37565350	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.14507718984871	0.382
18	35145314	C	A	18	37565351	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.991726014871887	0.9
18	35145314	C	G	18	37565351	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.990406884416775	0.85
18	35145314	C	T	18	37565351	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.980828890443573	0.84
18	35145315	T	A	18	37565352	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.890264961274532	0.636
18	35145315	T	C	18	37565352	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.765920079854494	0.526
18	35145315	T	G	18	37565352	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.513298464390735	0.506
18	35145316	C	A	18	37565353	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.249505490529206	0.388
18	35145316	C	G	18	37565353	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.29707566094355	0.456
18	35145316	C	T	18	37565353	y	y	intronic	CELF4	.	.	intronic	ENSG00000101489	.	.	0.00136116708067797	0.044
18	35145317	A	C	18	37565354	y	y	splicing	CELF4(NM_001025089:exon2:c.286+2T>G;NM_020180:exon2:c.286+2T>G;NM_001025088:exon2:c.286+2T>G;NM_001025087:exon2:c.286+2T>G)	.	.	splicing	ENSG00000101489(ENST00000412753:exon2:c.286+2T>G;ENST00000420428:exon2:c.286+2T>G;ENST00000591287:exon2:c.286+2T>G;ENST00000334919:exon2:c.286+2T>G;ENST00000361795:exon2:c.286+2T>G;ENST00000601019:exon2:c.286+2T>G;ENST00000603232:exon2:c.286+2T>G;ENST00000591282:exon2:c.286+2T>G;ENST00000588597:exon2:c.286+2T>G;ENST00000601392:exon2:c.286+2T>G)	.	.	0.999988247793601	0.926
18	35145317	A	G	18	37565354	y	y	splicing	CELF4(NM_001025089:exon2:c.286+2T>C;NM_020180:exon2:c.286+2T>C;NM_001025088:exon2:c.286+2T>C;NM_001025087:exon2:c.286+2T>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon2:c.286+2T>C;ENST00000420428:exon2:c.286+2T>C;ENST00000591287:exon2:c.286+2T>C;ENST00000334919:exon2:c.286+2T>C;ENST00000361795:exon2:c.286+2T>C;ENST00000601019:exon2:c.286+2T>C;ENST00000603232:exon2:c.286+2T>C;ENST00000591282:exon2:c.286+2T>C;ENST00000588597:exon2:c.286+2T>C;ENST00000601392:exon2:c.286+2T>C)	.	.	0.999929727175276	0.858
18	35145317	A	T	18	37565354	y	y	splicing	CELF4(NM_001025089:exon2:c.286+2T>A;NM_020180:exon2:c.286+2T>A;NM_001025088:exon2:c.286+2T>A;NM_001025087:exon2:c.286+2T>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon2:c.286+2T>A;ENST00000420428:exon2:c.286+2T>A;ENST00000591287:exon2:c.286+2T>A;ENST00000334919:exon2:c.286+2T>A;ENST00000361795:exon2:c.286+2T>A;ENST00000601019:exon2:c.286+2T>A;ENST00000603232:exon2:c.286+2T>A;ENST00000591282:exon2:c.286+2T>A;ENST00000588597:exon2:c.286+2T>A;ENST00000601392:exon2:c.286+2T>A)	.	.	0.999988247793601	0.926
18	35145318	C	A	18	37565355	y	y	splicing	CELF4(NM_001025089:exon2:c.286+1G>T;NM_020180:exon2:c.286+1G>T;NM_001025088:exon2:c.286+1G>T;NM_001025087:exon2:c.286+1G>T)	.	.	splicing	ENSG00000101489(ENST00000412753:exon2:c.286+1G>T;ENST00000420428:exon2:c.286+1G>T;ENST00000591287:exon2:c.286+1G>T;ENST00000334919:exon2:c.286+1G>T;ENST00000361795:exon2:c.286+1G>T;ENST00000601019:exon2:c.286+1G>T;ENST00000603232:exon2:c.286+1G>T;ENST00000591282:exon2:c.286+1G>T;ENST00000588597:exon2:c.286+1G>T;ENST00000601392:exon2:c.286+1G>T)	.	.	0.999985532734767	0.934
18	35145318	C	G	18	37565355	y	y	splicing	CELF4(NM_001025089:exon2:c.286+1G>C;NM_020180:exon2:c.286+1G>C;NM_001025088:exon2:c.286+1G>C;NM_001025087:exon2:c.286+1G>C)	.	.	splicing	ENSG00000101489(ENST00000412753:exon2:c.286+1G>C;ENST00000420428:exon2:c.286+1G>C;ENST00000591287:exon2:c.286+1G>C;ENST00000334919:exon2:c.286+1G>C;ENST00000361795:exon2:c.286+1G>C;ENST00000601019:exon2:c.286+1G>C;ENST00000603232:exon2:c.286+1G>C;ENST00000591282:exon2:c.286+1G>C;ENST00000588597:exon2:c.286+1G>C;ENST00000601392:exon2:c.286+1G>C)	.	.	0.999985532734767	0.934
18	35145318	C	T	18	37565355	y	y	splicing	CELF4(NM_001025089:exon2:c.286+1G>A;NM_020180:exon2:c.286+1G>A;NM_001025088:exon2:c.286+1G>A;NM_001025087:exon2:c.286+1G>A)	.	.	splicing	ENSG00000101489(ENST00000412753:exon2:c.286+1G>A;ENST00000420428:exon2:c.286+1G>A;ENST00000591287:exon2:c.286+1G>A;ENST00000334919:exon2:c.286+1G>A;ENST00000361795:exon2:c.286+1G>A;ENST00000601019:exon2:c.286+1G>A;ENST00000603232:exon2:c.286+1G>A;ENST00000591282:exon2:c.286+1G>A;ENST00000588597:exon2:c.286+1G>A;ENST00000601392:exon2:c.286+1G>A)	.	.	0.999985532734767	0.934
18	35145319	C	A	18	37565356	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon1:c.G286T:p.G96C;CELF4:NM_001025087:exon1:c.G286T:p.G96C;CELF4:NM_001025088:exon1:c.G286T:p.G96C;CELF4:NM_020180:exon1:c.G286T:p.G96C;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000588597:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000601019:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000591282:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000412753:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000591287:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000601392:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000603232:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000420428:exon1:c.G286T:p.G96C;ENSG00000101489:ENST00000361795:exon1:c.G286T:p.G96C;	0.999435772779452	0.968
18	35145319	C	G	18	37565356	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon1:c.G286C:p.G96R;CELF4:NM_001025087:exon1:c.G286C:p.G96R;CELF4:NM_001025088:exon1:c.G286C:p.G96R;CELF4:NM_020180:exon1:c.G286C:p.G96R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000588597:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000601019:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000591282:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000412753:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000591287:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000601392:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000603232:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000420428:exon1:c.G286C:p.G96R;ENSG00000101489:ENST00000361795:exon1:c.G286C:p.G96R;	0.999788359809385	0.952
18	35145319	C	T	18	37565356	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon1:c.G286A:p.G96S;CELF4:NM_001025087:exon1:c.G286A:p.G96S;CELF4:NM_001025088:exon1:c.G286A:p.G96S;CELF4:NM_020180:exon1:c.G286A:p.G96S;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000588597:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000601019:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000591282:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000412753:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000591287:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000601392:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000603232:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000420428:exon1:c.G286A:p.G96S;ENSG00000101489:ENST00000361795:exon1:c.G286A:p.G96S;	0.999808653195283	0.956
18	35145320	T	A	18	37565357	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon1:c.A285T:p.K95N;CELF4:NM_001025087:exon1:c.A285T:p.K95N;CELF4:NM_001025088:exon1:c.A285T:p.K95N;CELF4:NM_020180:exon1:c.A285T:p.K95N;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000588597:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000601019:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000591282:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000412753:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000591287:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000601392:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000603232:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000420428:exon1:c.A285T:p.K95N;ENSG00000101489:ENST00000361795:exon1:c.A285T:p.K95N;	0.988495831133797	0.654
18	35145320	T	C	18	37565357	y	y	exonic	CELF4	synonymous SNV	CELF4:NM_001025089:exon1:c.A285G:p.K95K;CELF4:NM_001025087:exon1:c.A285G:p.K95K;CELF4:NM_001025088:exon1:c.A285G:p.K95K;CELF4:NM_020180:exon1:c.A285G:p.K95K;	exonic	ENSG00000101489	synonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000588597:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000601019:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000591282:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000412753:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000591287:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000601392:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000603232:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000420428:exon1:c.A285G:p.K95K;ENSG00000101489:ENST00000361795:exon1:c.A285G:p.K95K;	0.859836550290631	0.606
18	35145320	T	G	18	37565357	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon1:c.A285C:p.K95N;CELF4:NM_001025087:exon1:c.A285C:p.K95N;CELF4:NM_001025088:exon1:c.A285C:p.K95N;CELF4:NM_020180:exon1:c.A285C:p.K95N;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000588597:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000601019:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000591282:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000412753:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000591287:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000601392:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000603232:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000420428:exon1:c.A285C:p.K95N;ENSG00000101489:ENST00000361795:exon1:c.A285C:p.K95N;	0.9926548363561	0.86
18	35145321	T	A	18	37565358	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon1:c.A284T:p.K95I;CELF4:NM_001025087:exon1:c.A284T:p.K95I;CELF4:NM_001025088:exon1:c.A284T:p.K95I;CELF4:NM_020180:exon1:c.A284T:p.K95I;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000588597:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000601019:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000591282:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000412753:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000591287:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000601392:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000603232:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000420428:exon1:c.A284T:p.K95I;ENSG00000101489:ENST00000361795:exon1:c.A284T:p.K95I;	0.922823524576002	0.614
18	35145321	T	C	18	37565358	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon1:c.A284G:p.K95R;CELF4:NM_001025087:exon1:c.A284G:p.K95R;CELF4:NM_001025088:exon1:c.A284G:p.K95R;CELF4:NM_020180:exon1:c.A284G:p.K95R;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000588597:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000601019:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000591282:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000412753:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000591287:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000601392:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000603232:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000420428:exon1:c.A284G:p.K95R;ENSG00000101489:ENST00000361795:exon1:c.A284G:p.K95R;	0.293958570761856	0.39
18	35145321	T	G	18	37565358	y	y	exonic	CELF4	nonsynonymous SNV	CELF4:NM_001025089:exon1:c.A284C:p.K95T;CELF4:NM_001025087:exon1:c.A284C:p.K95T;CELF4:NM_001025088:exon1:c.A284C:p.K95T;CELF4:NM_020180:exon1:c.A284C:p.K95T;	exonic	ENSG00000101489	nonsynonymous SNV	ENSG00000101489:ENST00000334919:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000588597:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000601019:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000591282:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000412753:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000591287:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000601392:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000603232:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000420428:exon1:c.A284C:p.K95T;ENSG00000101489:ENST00000361795:exon1:c.A284C:p.K95T;	0.719618384826001	0.706
18	39535322	G	A	18	41955357	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon1:c.G66A:p.K22K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.G66A:p.K22K;ENSG00000078142:ENST00000398870:exon1:c.G66A:p.K22K;ENSG00000078142:ENST00000586545:exon1:c.G66A:p.K22K;	3.21986040600656E-6	0.004
18	39535322	G	C	18	41955357	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon1:c.G66C:p.K22N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.G66C:p.K22N;ENSG00000078142:ENST00000398870:exon1:c.G66C:p.K22N;ENSG00000078142:ENST00000586545:exon1:c.G66C:p.K22N;	4.91955769894541E-5	0.138
18	39535322	G	T	18	41955357	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon1:c.G66T:p.K22N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.G66T:p.K22N;ENSG00000078142:ENST00000398870:exon1:c.G66T:p.K22N;ENSG00000078142:ENST00000586545:exon1:c.G66T:p.K22N;	0.00427318285843506	0.256
18	39535323	A	C	18	41955358	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon1:c.A67C:p.I23L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.A67C:p.I23L;ENSG00000078142:ENST00000398870:exon1:c.A67C:p.I23L;ENSG00000078142:ENST00000586545:exon1:c.A67C:p.I23L;	0.999495061533312	0.986
18	39535323	A	G	18	41955358	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon1:c.A67G:p.I23V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.A67G:p.I23V;ENSG00000078142:ENST00000398870:exon1:c.A67G:p.I23V;ENSG00000078142:ENST00000586545:exon1:c.A67G:p.I23V;	0.999798564992964	0.98
18	39535323	A	T	18	41955358	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon1:c.A67T:p.I23L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.A67T:p.I23L;ENSG00000078142:ENST00000398870:exon1:c.A67T:p.I23F;ENSG00000078142:ENST00000586545:exon1:c.A67T:p.I23L;	0.999912683419421	1.0
18	39535324	T	A	18	41955359	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon1:c.T68A:p.I23K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.T68A:p.I23K;ENSG00000078142:ENST00000398870:exon1:c.T68A:p.I23N;ENSG00000078142:ENST00000586545:exon1:c.T68A:p.I23K;	0.8411887575305	0.814
18	39535324	T	C	18	41955359	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon1:c.T68C:p.I23T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.T68C:p.I23T;ENSG00000078142:ENST00000398870:exon1:c.T68C:p.I23T;ENSG00000078142:ENST00000586545:exon1:c.T68C:p.I23T;	0.963502070835367	0.92
18	39535324	T	G	18	41955359	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon1:c.T68G:p.I23R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon1:c.T68G:p.I23R;ENSG00000078142:ENST00000398870:exon1:c.T68G:p.I23S;ENSG00000078142:ENST00000586545:exon1:c.T68G:p.I23R;	0.388463638136553	0.394
18	39535325	G	A	18	41955360	y	y	splicing	PIK3C3(NM_002647:exon1:c.68+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon1:c.68+1G>A;ENST00000398870:exon1:c.68+1G>A;ENST00000586545:exon1:c.68+1G>A)	.	.	0.999983677848485	0.942
18	39535325	G	C	18	41955360	y	y	splicing	PIK3C3(NM_002647:exon1:c.68+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon1:c.68+1G>C;ENST00000398870:exon1:c.68+1G>C;ENST00000586545:exon1:c.68+1G>C)	.	.	0.999983677848485	0.942
18	39535325	G	T	18	41955360	y	y	splicing	PIK3C3(NM_002647:exon1:c.68+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon1:c.68+1G>T;ENST00000398870:exon1:c.68+1G>T;ENST00000586545:exon1:c.68+1G>T)	.	.	0.999983677848485	0.942
18	39535326	T	A	18	41955361	y	y	splicing	PIK3C3(NM_002647:exon1:c.68+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon1:c.68+2T>A;ENST00000398870:exon1:c.68+2T>A;ENST00000586545:exon1:c.68+2T>A)	.	.	0.999986741007567	0.944
18	39535326	T	C	18	41955361	y	y	splicing	PIK3C3(NM_002647:exon1:c.68+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon1:c.68+2T>C;ENST00000398870:exon1:c.68+2T>C;ENST00000586545:exon1:c.68+2T>C)	.	.	0.991645506214995	0.672
18	39535326	T	G	18	41955361	y	y	splicing	PIK3C3(NM_002647:exon1:c.68+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon1:c.68+2T>G;ENST00000398870:exon1:c.68+2T>G;ENST00000586545:exon1:c.68+2T>G)	.	.	0.999986741007567	0.944
18	39535327	A	C	18	41955362	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999453805382896	0.778
18	39535327	A	G	18	41955362	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.54692314762164	0.508
18	39535327	A	T	18	41955362	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999552952144098	0.762
18	39535328	A	C	18	41955363	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999854537915455	0.948
18	39535328	A	G	18	41955363	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999927526992404	0.988
18	39535328	A	T	18	41955363	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999788052175454	0.944
18	39535329	G	A	18	41955364	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999987523854043	0.998
18	39535329	G	C	18	41955364	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999897013041115	0.982
18	39535329	G	T	18	41955364	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999979185435913	0.96
18	39535330	A	C	18	41955365	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00847040082651211	0.21
18	39535330	A	G	18	41955365	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.24089560896277E-4	0.002
18	39535330	A	T	18	41955365	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.32634144075264E-4	0.028
18	39535331	G	A	18	41955366	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.01971496368966E-4	0.022
18	39535331	G	C	18	41955366	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.39212263259896E-4	0.022
18	39535331	G	T	18	41955366	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.15383874369594E-4	0.036
18	39535332	A	C	18	41955367	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.67106545568942E-5	0.0
18	39535332	A	G	18	41955367	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.50556582317016E-5	0.0
18	39535332	A	T	18	41955367	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.66132278253455E-5	0.0
18	39535407	A	C	18	41955442	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	1.10438534644303E-4	0.002
18	39535407	A	G	18	41955442	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	1.10438534644303E-4	0.002
18	39535407	A	T	18	41955442	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	1.11221547004566E-4	0.002
18	39535408	A	C	18	41955443	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	9.50882075753536E-5	0.0
18	39535408	A	G	18	41955443	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	9.50882075753536E-5	0.0
18	39535408	A	T	18	41955443	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	6.50285120834046E-5	0.0
18	39535409	A	C	18	41955444	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	1.17296494036876E-4	0.0
18	39535409	A	G	18	41955444	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	1.17296494036876E-4	0.0
18	39535409	A	T	18	41955444	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	1.47952223173846E-4	0.0
18	39535410	G	A	18	41955445	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000585528:exon1:c.27+1G>A)	.	.	2.02869364817175E-4	0.03
18	39535410	G	C	18	41955445	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000585528:exon1:c.27+1G>C)	.	.	2.11569662134382E-4	0.012
18	39535410	G	T	18	41955445	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000585528:exon1:c.27+1G>T)	.	.	1.48234079465902E-4	0.022
18	39535411	T	A	18	41955446	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000585528:exon1:c.27+2T>A)	.	.	4.82718860542145E-5	0.002
18	39535411	T	C	18	41955446	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000585528:exon1:c.27+2T>C)	.	.	4.82718860542145E-5	0.002
18	39535411	T	G	18	41955446	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000585528:exon1:c.27+2T>G)	.	.	4.82718860542145E-5	0.002
18	39535412	A	C	18	41955447	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.89358768570465E-4	0.024
18	39535412	A	G	18	41955447	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.89358768570465E-4	0.024
18	39535412	A	T	18	41955447	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.97897577769029E-4	0.038
18	39535413	C	A	18	41955448	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.01315188657279E-5	0.0
18	39535413	C	G	18	41955448	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.01315188657279E-5	0.0
18	39535413	C	T	18	41955448	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.01315188657279E-5	0.0
18	39535414	G	A	18	41955449	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.33698758487849E-4	0.016
18	39535414	G	C	18	41955449	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.08581954909107E-4	0.008
18	39535414	G	T	18	41955449	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.33698758487849E-4	0.016
18	39535415	T	A	18	41955450	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.47952223173846E-4	0.0
18	39535415	T	C	18	41955450	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.17296494036876E-4	0.0
18	39535415	T	G	18	41955450	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.17296494036876E-4	0.0
18	39535416	G	A	18	41955451	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.2331471065878E-4	0.002
18	39535416	G	C	18	41955451	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.35462544897784E-4	0.004
18	39535416	G	T	18	41955451	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.2331471065878E-4	0.004
18	39535417	A	C	18	41955452	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.97897577769029E-4	0.008
18	39535417	A	G	18	41955452	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.97897577769029E-4	0.01
18	39535417	A	T	18	41955452	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.80151784508298E-4	0.004
18	39537523	T	A	18	41957558	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.976238683856455	0.69
18	39537523	T	C	18	41957558	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00562862805751928	0.082
18	39537523	T	G	18	41957558	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.88224747876373	0.624
18	39537524	T	A	18	41957559	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999982118521692	0.966
18	39537524	T	C	18	41957559	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0240029427581223	0.224
18	39537524	T	G	18	41957559	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997495939553038	0.746
18	39537525	G	A	18	41957560	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0011079592142611	0.172
18	39537525	G	C	18	41957560	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.23351095210762E-5	0.044
18	39537525	G	T	18	41957560	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.28513586446931E-5	0.054
18	39537526	T	A	18	41957561	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999985571089613	0.976
18	39537526	T	C	18	41957561	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0683801586161128	0.31
18	39537526	T	G	18	41957561	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997288771633782	0.938
18	39537527	G	A	18	41957562	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0014556710528111	0.066
18	39537527	G	C	18	41957562	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.23960684195697E-4	0.004
18	39537527	G	T	18	41957562	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.91635765426405E-5	0.002
18	39537528	C	A	18	41957563	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0051770583548592	0.106
18	39537528	C	G	18	41957563	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.47155004806252E-4	0.078
18	39537528	C	T	18	41957563	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.94685745846661E-5	0.008
18	39537529	T	A	18	41957564	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.915427716699439	0.622
18	39537529	T	C	18	41957564	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0031716087143067	0.092
18	39537529	T	G	18	41957564	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.942431054326377	0.586
18	39537530	T	A	18	41957565	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.961047548879267	0.722
18	39537530	T	C	18	41957565	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.254368267966781	0.198
18	39537530	T	G	18	41957565	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.991709479273881	0.732
18	39537531	T	A	18	41957566	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.3497853785786E-4	0.004
18	39537531	T	C	18	41957566	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.36659404822238E-4	0.132
18	39537531	T	G	18	41957566	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00130655718471042	0.314
18	39537532	C	A	18	41957567	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998802700715216	0.912
18	39537532	C	G	18	41957567	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999764650320218	0.882
18	39537532	C	T	18	41957567	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0833311137161463	0.088
18	39537533	A	C	18	41957568	y	y	splicing	PIK3C3(NM_002647:exon2:c.69-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.69-2A>C;ENST00000586545:exon2:c.69-2A>C;ENST00000585528:exon2:c.28-2A>C)	.	.	0.999992263738125	0.94
18	39537533	A	G	18	41957568	y	y	splicing	PIK3C3(NM_002647:exon2:c.69-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.69-2A>G;ENST00000586545:exon2:c.69-2A>G;ENST00000585528:exon2:c.28-2A>G)	.	.	0.999992263738125	0.94
18	39537533	A	T	18	41957568	y	y	splicing	PIK3C3(NM_002647:exon2:c.69-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.69-2A>T;ENST00000586545:exon2:c.69-2A>T;ENST00000585528:exon2:c.28-2A>T)	.	.	0.999992263738125	0.94
18	39537534	G	A	18	41957569	y	y	splicing	PIK3C3(NM_002647:exon2:c.69-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.69-1G>A;ENST00000586545:exon2:c.69-1G>A;ENST00000585528:exon2:c.28-1G>A)	.	.	0.999989528922238	0.946
18	39537534	G	C	18	41957569	y	y	splicing	PIK3C3(NM_002647:exon2:c.69-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.69-1G>C;ENST00000586545:exon2:c.69-1G>C;ENST00000585528:exon2:c.28-1G>C)	.	.	0.999989528922238	0.946
18	39537534	G	T	18	41957569	y	y	splicing	PIK3C3(NM_002647:exon2:c.69-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.69-1G>T;ENST00000586545:exon2:c.69-1G>T;ENST00000585528:exon2:c.28-1G>T)	.	.	0.999989528922238	0.946
18	39537535	A	C	18	41957570	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon2:c.A69C:p.I23I;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A69C:p.I23I;ENSG00000078142:ENST00000586545:exon2:c.A69C:p.I23I;	0.0054757422566885	0.194
18	39537535	A	G	18	41957570	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.A69G:p.I23M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A69G:p.I23M;ENSG00000078142:ENST00000586545:exon2:c.A69G:p.I23M;	0.0118182730524411	0.174
18	39537535	A	T	18	41957570	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon2:c.A69T:p.I23I;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A69T:p.I23I;ENSG00000078142:ENST00000586545:exon2:c.A69T:p.I23I;	0.0404817698204528	0.188
18	39537536	G	A	18	41957571	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.G70A:p.G24R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.G70A:p.G24R;ENSG00000078142:ENST00000586545:exon2:c.G70A:p.G24R;	0.920740839605027	0.714
18	39537536	G	C	18	41957571	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.G70C:p.G24R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.G70C:p.G24R;ENSG00000078142:ENST00000586545:exon2:c.G70C:p.G24R;	0.920740839605027	0.712
18	39537536	G	T	18	41957571	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon2:c.G70T:p.G24X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon2:c.G70T:p.G24X;ENSG00000078142:ENST00000586545:exon2:c.G70T:p.G24X;	0.884499140433876	0.858
18	39537721	G	A	18	41957756	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon2:c.G255A:p.W85X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon2:c.G255A:p.W85X;ENSG00000078142:ENST00000586545:exon2:c.G255A:p.W85X;	0.776698681235951	0.81
18	39537721	G	C	18	41957756	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.G255C:p.W85C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.G255C:p.W85C;ENSG00000078142:ENST00000586545:exon2:c.G255C:p.W85C;	0.787090328714037	0.718
18	39537721	G	T	18	41957756	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.G255T:p.W85C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.G255T:p.W85C;ENSG00000078142:ENST00000586545:exon2:c.G255T:p.W85C;	0.963623242251072	0.67
18	39537722	A	C	18	41957757	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.A256C:p.N86H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A256C:p.N86H;ENSG00000078142:ENST00000586545:exon2:c.A256C:p.N86H;	0.990130470906256	0.948
18	39537722	A	G	18	41957757	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.A256G:p.N86D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A256G:p.N86D;ENSG00000078142:ENST00000586545:exon2:c.A256G:p.N86D;	0.999421466390031	0.94
18	39537722	A	T	18	41957757	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.A256T:p.N86Y;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A256T:p.N86Y;ENSG00000078142:ENST00000586545:exon2:c.A256T:p.N86Y;	0.999484250844325	0.968
18	39537723	A	C	18	41957758	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.A257C:p.N86T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A257C:p.N86T;ENSG00000078142:ENST00000586545:exon2:c.A257C:p.N86T;	0.0137861169151973	0.178
18	39537723	A	G	18	41957758	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.A257G:p.N86S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A257G:p.N86S;ENSG00000078142:ENST00000586545:exon2:c.A257G:p.N86S;	5.17430620015208E-4	0.06
18	39537723	A	T	18	41957758	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon2:c.A257T:p.N86I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon2:c.A257T:p.N86I;ENSG00000078142:ENST00000586545:exon2:c.A257T:p.N86I;	0.495551267671328	0.574
18	39537724	G	A	18	41957759	y	y	splicing	PIK3C3(NM_002647:exon2:c.257+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.257+1G>A;ENST00000586545:exon2:c.257+1G>A;ENST00000585528:exon2:c.216+1G>A;ENST00000591011:exon1:c.120+1G>A)	.	.	0.999986675681007	0.934
18	39537724	G	C	18	41957759	y	y	splicing	PIK3C3(NM_002647:exon2:c.257+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.257+1G>C;ENST00000586545:exon2:c.257+1G>C;ENST00000585528:exon2:c.216+1G>C;ENST00000591011:exon1:c.120+1G>C)	.	.	0.999986675681007	0.934
18	39537724	G	T	18	41957759	y	y	splicing	PIK3C3(NM_002647:exon2:c.257+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.257+1G>T;ENST00000586545:exon2:c.257+1G>T;ENST00000585528:exon2:c.216+1G>T;ENST00000591011:exon1:c.120+1G>T)	.	.	0.999986675681007	0.934
18	39537725	T	A	18	41957760	y	y	splicing	PIK3C3(NM_002647:exon2:c.257+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.257+2T>A;ENST00000586545:exon2:c.257+2T>A;ENST00000585528:exon2:c.216+2T>A;ENST00000591011:exon1:c.120+2T>A)	.	.	0.999990155693597	0.928
18	39537725	T	C	18	41957760	y	y	splicing	PIK3C3(NM_002647:exon2:c.257+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.257+2T>C;ENST00000586545:exon2:c.257+2T>C;ENST00000585528:exon2:c.216+2T>C;ENST00000591011:exon1:c.120+2T>C)	.	.	0.990321670505329	0.598
18	39537725	T	G	18	41957760	y	y	splicing	PIK3C3(NM_002647:exon2:c.257+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon2:c.257+2T>G;ENST00000586545:exon2:c.257+2T>G;ENST00000585528:exon2:c.216+2T>G;ENST00000591011:exon1:c.120+2T>G)	.	.	0.999990155693597	0.928
18	39537726	A	C	18	41957761	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999812590079053	0.914
18	39537726	A	G	18	41957761	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.876269626006049	0.47
18	39537726	A	T	18	41957761	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999586291383481	0.886
18	39537727	A	C	18	41957762	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.991732870533158	0.834
18	39537727	A	G	18	41957762	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997153041179775	0.914
18	39537727	A	T	18	41957762	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.994486720567644	0.804
18	39537728	G	A	18	41957763	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99912896002729	0.966
18	39537728	G	C	18	41957763	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998100101806163	0.93
18	39537728	G	T	18	41957763	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999795271318621	0.962
18	39537729	T	A	18	41957764	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.98956434802849	0.684
18	39537729	T	C	18	41957764	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.982830533251281	0.636
18	39537729	T	G	18	41957764	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.912643541783634	0.61
18	39537730	T	A	18	41957765	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.45246288420901E-5	0.036
18	39537730	T	C	18	41957765	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.45246288420901E-5	0.032
18	39537730	T	G	18	41957765	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.76253643775456E-5	0.034
18	39537731	T	A	18	41957766	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.22894389443643E-5	0.0
18	39537731	T	C	18	41957766	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.22894389443643E-5	0.0
18	39537731	T	G	18	41957766	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.22894389443643E-5	0.0
18	39542442	T	A	18	41962477	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.336736980518263	0.458
18	39542442	T	C	18	41962477	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0121085317032806	0.178
18	39542442	T	G	18	41962477	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.222656797737264	0.41
18	39542443	C	A	18	41962478	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00534463699303588	0.172
18	39542443	C	G	18	41962478	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0017949613609351	0.13
18	39542443	C	T	18	41962478	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.14868319022009E-5	0.024
18	39542444	A	C	18	41962479	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.74352067080894E-4	0.002
18	39542444	A	G	18	41962479	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.27780981913324E-4	0.0
18	39542444	A	T	18	41962479	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.9792431942535E-5	0.006
18	39542445	T	A	18	41962480	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.36368776243872	0.384
18	39542445	T	C	18	41962480	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0258018806949062	0.12
18	39542445	T	G	18	41962480	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999973348628514	0.97
18	39542446	T	A	18	41962481	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.112028866366191	0.322
18	39542446	T	C	18	41962481	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00312710359955506	0.034
18	39542446	T	G	18	41962481	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0683010523701202	0.24
18	39542447	T	A	18	41962482	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0391295295757721	0.124
18	39542447	T	C	18	41962482	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.08785812403534E-4	0.018
18	39542447	T	G	18	41962482	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00884560164095766	0.112
18	39542448	C	A	18	41962483	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0383898046143684	0.244
18	39542448	C	G	18	41962483	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0461499194508463	0.304
18	39542448	C	T	18	41962483	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.92825657877807E-4	0.028
18	39542449	C	A	18	41962484	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.13826362356779E-4	0.044
18	39542449	C	G	18	41962484	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.62429402684353E-4	0.072
18	39542449	C	T	18	41962484	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.18129598865676E-5	0.01
18	39542450	A	C	18	41962485	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00577320062336765	0.082
18	39542450	A	G	18	41962485	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0496862868689704	0.164
18	39542450	A	T	18	41962485	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0220634855410547	0.112
18	39542451	T	A	18	41962486	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.705170972108793	0.428
18	39542451	T	C	18	41962486	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.48690884955108E-5	0.016
18	39542451	T	G	18	41962486	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999783680812725	0.892
18	39542452	A	C	18	41962487	y	y	splicing	PIK3C3(NM_002647:exon3:c.258-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.258-2A>C;ENST00000398870:exon2:c.69-2A>C;ENST00000586545:exon3:c.258-2A>C;ENST00000585528:exon3:c.217-2A>C;ENST00000591011:exon2:c.121-2A>C)	.	.	0.999988247793601	0.932
18	39542452	A	G	18	41962487	y	y	splicing	PIK3C3(NM_002647:exon3:c.258-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.258-2A>G;ENST00000398870:exon2:c.69-2A>G;ENST00000586545:exon3:c.258-2A>G;ENST00000585528:exon3:c.217-2A>G;ENST00000591011:exon2:c.121-2A>G)	.	.	0.999988247793601	0.932
18	39542452	A	T	18	41962487	y	y	splicing	PIK3C3(NM_002647:exon3:c.258-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.258-2A>T;ENST00000398870:exon2:c.69-2A>T;ENST00000586545:exon3:c.258-2A>T;ENST00000585528:exon3:c.217-2A>T;ENST00000591011:exon2:c.121-2A>T)	.	.	0.999988247793601	0.932
18	39542453	G	A	18	41962488	y	y	splicing	PIK3C3(NM_002647:exon3:c.258-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.258-1G>A;ENST00000398870:exon2:c.69-1G>A;ENST00000586545:exon3:c.258-1G>A;ENST00000585528:exon3:c.217-1G>A;ENST00000591011:exon2:c.121-1G>A)	.	.	0.999989072007339	0.934
18	39542453	G	C	18	41962488	y	y	splicing	PIK3C3(NM_002647:exon3:c.258-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.258-1G>C;ENST00000398870:exon2:c.69-1G>C;ENST00000586545:exon3:c.258-1G>C;ENST00000585528:exon3:c.217-1G>C;ENST00000591011:exon2:c.121-1G>C)	.	.	0.999989072007339	0.934
18	39542453	G	T	18	41962488	y	y	splicing	PIK3C3(NM_002647:exon3:c.258-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.258-1G>T;ENST00000398870:exon2:c.69-1G>T;ENST00000586545:exon3:c.258-1G>T;ENST00000585528:exon3:c.217-1G>T;ENST00000591011:exon2:c.121-1G>T)	.	.	0.999989072007339	0.934
18	39542454	C	A	18	41962489	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.C258A:p.N86K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.C258A:p.N86K;ENSG00000078142:ENST00000586545:exon3:c.C258A:p.N86K;	1.80317170715164E-4	0.012
18	39542454	C	G	18	41962489	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.C258G:p.N86K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.C258G:p.N86K;ENSG00000078142:ENST00000398870:exon2:c.C69G:p.I23M;ENSG00000078142:ENST00000586545:exon3:c.C258G:p.N86K;	9.26976803885248E-4	0.142
18	39542454	C	T	18	41962489	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon3:c.C258T:p.N86N;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.C258T:p.N86N;ENSG00000078142:ENST00000398870:exon2:c.C69T:p.I23I;ENSG00000078142:ENST00000586545:exon3:c.C258T:p.N86N;	0.0084044706881761	0.23
18	39542455	T	A	18	41962490	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.T259A:p.W87R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.T259A:p.W87R;ENSG00000078142:ENST00000398870:exon2:c.T70A:p.W24R;ENSG00000078142:ENST00000586545:exon3:c.T259A:p.W87R;	0.876886637123755	0.47
18	39542455	T	C	18	41962490	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.T259C:p.W87R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.T259C:p.W87R;ENSG00000078142:ENST00000398870:exon2:c.T70C:p.W24R;ENSG00000078142:ENST00000586545:exon3:c.T259C:p.W87R;	0.839840146846579	0.406
18	39542455	T	G	18	41962490	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.T259G:p.W87G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.T259G:p.W87G;ENSG00000078142:ENST00000398870:exon2:c.T70G:p.W24G;ENSG00000078142:ENST00000586545:exon3:c.T259G:p.W87G;	0.880543358621874	0.396
18	39542595	C	A	18	41962630	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon3:c.C399A:p.Y133X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon3:c.C399A:p.Y133X;ENSG00000078142:ENST00000398870:exon2:c.C210A:p.Y70X;ENSG00000078142:ENST00000586545:exon3:c.C399A:p.Y133X;	1.75967771238203E-5	0.118
18	39542595	C	G	18	41962630	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon3:c.C399G:p.Y133X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon3:c.C399G:p.Y133X;ENSG00000078142:ENST00000398870:exon2:c.C210G:p.Y70X;ENSG00000078142:ENST00000586545:exon3:c.C399G:p.Y133X;	1.47763881430231E-5	0.09
18	39542595	C	T	18	41962630	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon3:c.C399T:p.Y133Y;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.C399T:p.Y133Y;ENSG00000078142:ENST00000398870:exon2:c.C210T:p.Y70Y;ENSG00000078142:ENST00000586545:exon3:c.C399T:p.Y133Y;	1.22345739834352E-4	0.012
18	39542596	G	A	18	41962631	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.G400A:p.G134S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.G400A:p.G134S;ENSG00000078142:ENST00000398870:exon2:c.G211A:p.G71S;ENSG00000078142:ENST00000586545:exon3:c.G400A:p.G134S;	0.454657045731085	0.478
18	39542596	G	C	18	41962631	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.G400C:p.G134R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.G400C:p.G134R;ENSG00000078142:ENST00000398870:exon2:c.G211C:p.G71R;ENSG00000078142:ENST00000586545:exon3:c.G400C:p.G134R;	0.60305207710258	0.532
18	39542596	G	T	18	41962631	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.G400T:p.G134C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.G400T:p.G134C;ENSG00000078142:ENST00000398870:exon2:c.G211T:p.G71C;ENSG00000078142:ENST00000586545:exon3:c.G400T:p.G134C;	0.538835872458151	0.492
18	39542597	G	A	18	41962632	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.G401A:p.G134D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.G401A:p.G134D;ENSG00000078142:ENST00000398870:exon2:c.G212A:p.G71D;ENSG00000078142:ENST00000586545:exon3:c.G401A:p.G134D;	0.999941066164516	0.958
18	39542597	G	C	18	41962632	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.G401C:p.G134A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.G401C:p.G134A;ENSG00000078142:ENST00000398870:exon2:c.G212C:p.G71A;ENSG00000078142:ENST00000586545:exon3:c.G401C:p.G134A;	0.999993767881675	0.956
18	39542597	G	T	18	41962632	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon3:c.G401T:p.G134V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon3:c.G401T:p.G134V;ENSG00000078142:ENST00000398870:exon2:c.G212T:p.G71V;ENSG00000078142:ENST00000586545:exon3:c.G401T:p.G134V;	0.999985074475354	0.984
18	39542598	G	A	18	41962633	y	y	splicing	PIK3C3(NM_002647:exon3:c.401+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.401+1G>A;ENST00000398870:exon2:c.212+1G>A;ENST00000586545:exon3:c.401+1G>A;ENST00000585528:exon3:c.360+1G>A;ENST00000591011:exon2:c.264+1G>A)	.	.	0.999989072007339	0.932
18	39542598	G	C	18	41962633	y	y	splicing	PIK3C3(NM_002647:exon3:c.401+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.401+1G>C;ENST00000398870:exon2:c.212+1G>C;ENST00000586545:exon3:c.401+1G>C;ENST00000585528:exon3:c.360+1G>C;ENST00000591011:exon2:c.264+1G>C)	.	.	0.999989072007339	0.932
18	39542598	G	T	18	41962633	y	y	splicing	PIK3C3(NM_002647:exon3:c.401+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.401+1G>T;ENST00000398870:exon2:c.212+1G>T;ENST00000586545:exon3:c.401+1G>T;ENST00000585528:exon3:c.360+1G>T;ENST00000591011:exon2:c.264+1G>T)	.	.	0.999989072007339	0.932
18	39542599	T	A	18	41962634	y	y	splicing	PIK3C3(NM_002647:exon3:c.401+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.401+2T>A;ENST00000398870:exon2:c.212+2T>A;ENST00000586545:exon3:c.401+2T>A;ENST00000585528:exon3:c.360+2T>A;ENST00000591011:exon2:c.264+2T>A)	.	.	0.999858944389918	0.894
18	39542599	T	C	18	41962634	y	y	splicing	PIK3C3(NM_002647:exon3:c.401+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.401+2T>C;ENST00000398870:exon2:c.212+2T>C;ENST00000586545:exon3:c.401+2T>C;ENST00000585528:exon3:c.360+2T>C;ENST00000591011:exon2:c.264+2T>C)	.	.	0.999182995853046	0.81
18	39542599	T	G	18	41962634	y	y	splicing	PIK3C3(NM_002647:exon3:c.401+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon3:c.401+2T>G;ENST00000398870:exon2:c.212+2T>G;ENST00000586545:exon3:c.401+2T>G;ENST00000585528:exon3:c.360+2T>G;ENST00000591011:exon2:c.264+2T>G)	.	.	0.999858944389918	0.898
18	39542600	A	C	18	41962635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.985836437832963	0.672
18	39542600	A	G	18	41962635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.78450994981114E-4	0.082
18	39542600	A	T	18	41962635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.991251361791564	0.65
18	39542601	A	C	18	41962636	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.761035217915869	0.564
18	39542601	A	G	18	41962636	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.954278804439833	0.558
18	39542601	A	T	18	41962636	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.699133473833788	0.556
18	39542602	G	A	18	41962637	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999633385093807	0.87
18	39542602	G	C	18	41962637	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99991823594805	0.89
18	39542602	G	T	18	41962637	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999388687311364	0.792
18	39542603	C	A	18	41962638	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.12114636444715E-4	0.02
18	39542603	C	G	18	41962638	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.59223334779798E-5	0.046
18	39542603	C	T	18	41962638	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.86149857123716E-5	0.0
18	39542604	A	C	18	41962639	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.17833868802641E-5	0.0
18	39542604	A	G	18	41962639	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.53367592659421E-6	0.0
18	39542604	A	T	18	41962639	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.53367592659421E-6	0.0
18	39542605	T	A	18	41962640	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.64160047602714E-5	0.014
18	39542605	T	C	18	41962640	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.48340086199078E-5	0.01
18	39542605	T	G	18	41962640	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.64160047602714E-5	0.014
18	39550279	C	A	18	41970315	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.44409309067859E-4	0.0
18	39550279	C	G	18	41970315	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.5773790241067E-4	0.018
18	39550279	C	T	18	41970315	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.04774931199373E-5	0.0
18	39550280	T	A	18	41970316	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0308119515816606	0.44
18	39550280	T	C	18	41970316	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0167124037829162	0.182
18	39550280	T	G	18	41970316	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00824866779604869	0.394
18	39550281	T	A	18	41970317	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0732381025826566	0.328
18	39550281	T	C	18	41970317	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00365545665544756	0.106
18	39550281	T	G	18	41970317	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0160621623694088	0.344
18	39550282	T	A	18	41970318	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00231672870544996	0.108
18	39550282	T	C	18	41970318	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.30819387208511E-4	0.014
18	39550282	T	G	18	41970318	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00213569902074687	0.116
18	39550283	T	A	18	41970319	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.21287878527258E-4	0.108
18	39550283	T	C	18	41970319	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.97843343646749E-4	0.01
18	39550283	T	G	18	41970319	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.87845546076695E-4	0.058
18	39550284	T	A	18	41970320	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00103442313632706	0.04
18	39550284	T	C	18	41970320	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.16232399793528E-5	0.0
18	39550284	T	G	18	41970320	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.34128579215273E-4	0.004
18	39550285	C	A	18	41970321	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00352394446243081	0.118
18	39550285	C	G	18	41970321	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00590909170326349	0.144
18	39550285	C	T	18	41970321	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.39291135897272E-5	0.006
18	39550286	C	A	18	41970322	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0014903149412349	0.102
18	39550286	C	G	18	41970322	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00139285490159756	0.126
18	39550286	C	T	18	41970322	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.07375404665911E-5	0.014
18	39550287	C	A	18	41970323	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.21174815395797E-4	0.008
18	39550287	C	G	18	41970323	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.26818143842195E-4	0.008
18	39550287	C	T	18	41970323	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.82958708666948E-4	0.018
18	39550288	T	A	18	41970324	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.062549913883227	0.23
18	39550288	T	C	18	41970324	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.1616867816939E-5	0.046
18	39550288	T	G	18	41970324	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.988309639516339	0.662
18	39550289	A	C	18	41970325	y	y	splicing	PIK3C3(NM_002647:exon4:c.402-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon4:c.402-2A>C;ENST00000398870:exon3:c.213-2A>C;ENST00000586545:exon4:c.402-2A>C;ENST00000585528:exon4:c.361-2A>C;ENST00000591011:exon3:c.265-2A>C)	.	.	0.999993672935256	0.928
18	39550289	A	G	18	41970325	y	y	splicing	PIK3C3(NM_002647:exon4:c.402-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon4:c.402-2A>G;ENST00000398870:exon3:c.213-2A>G;ENST00000586545:exon4:c.402-2A>G;ENST00000585528:exon4:c.361-2A>G;ENST00000591011:exon3:c.265-2A>G)	.	.	0.999993672935256	0.928
18	39550289	A	T	18	41970325	y	y	splicing	PIK3C3(NM_002647:exon4:c.402-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon4:c.402-2A>T;ENST00000398870:exon3:c.213-2A>T;ENST00000586545:exon4:c.402-2A>T;ENST00000585528:exon4:c.361-2A>T;ENST00000591011:exon3:c.265-2A>T)	.	.	0.999993672935256	0.928
18	39550290	G	A	18	41970326	y	y	splicing	PIK3C3(NM_002647:exon4:c.402-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon4:c.402-1G>A;ENST00000398870:exon3:c.213-1G>A;ENST00000586545:exon4:c.402-1G>A;ENST00000585528:exon4:c.361-1G>A;ENST00000591011:exon3:c.265-1G>A)	.	.	0.999992446697775	0.932
18	39550290	G	C	18	41970326	y	y	splicing	PIK3C3(NM_002647:exon4:c.402-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon4:c.402-1G>C;ENST00000398870:exon3:c.213-1G>C;ENST00000586545:exon4:c.402-1G>C;ENST00000585528:exon4:c.361-1G>C;ENST00000591011:exon3:c.265-1G>C)	.	.	0.999992446697775	0.932
18	39550290	G	T	18	41970326	y	y	splicing	PIK3C3(NM_002647:exon4:c.402-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon4:c.402-1G>T;ENST00000398870:exon3:c.213-1G>T;ENST00000586545:exon4:c.402-1G>T;ENST00000585528:exon4:c.361-1G>T;ENST00000591011:exon3:c.265-1G>T)	.	.	0.999992446697775	0.932
18	39550291	C	A	18	41970327	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon4:c.C402A:p.G134G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.C402A:p.G134G;ENSG00000078142:ENST00000398870:exon3:c.C213A:p.G71G;ENSG00000078142:ENST00000586545:exon4:c.C402A:p.G134G;	8.2280543455927E-4	0.01
18	39550291	C	G	18	41970327	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon4:c.C402G:p.G134G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.C402G:p.G134G;ENSG00000078142:ENST00000398870:exon3:c.C213G:p.G71G;ENSG00000078142:ENST00000586545:exon4:c.C402G:p.G134G;	0.00576411737624841	0.166
18	39550291	C	T	18	41970327	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon4:c.C402T:p.G134G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.C402T:p.G134G;ENSG00000078142:ENST00000398870:exon3:c.C213T:p.G71G;ENSG00000078142:ENST00000586545:exon4:c.C402T:p.G134G;	0.00513948224071144	0.132
18	39550292	A	C	18	41970328	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.A403C:p.M135L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.A403C:p.M135L;ENSG00000078142:ENST00000398870:exon3:c.A214C:p.M72L;ENSG00000078142:ENST00000586545:exon4:c.A403C:p.M135L;	0.04754822908462	0.25
18	39550292	A	G	18	41970328	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.A403G:p.M135V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.A403G:p.M135V;ENSG00000078142:ENST00000398870:exon3:c.A214G:p.M72V;ENSG00000078142:ENST00000586545:exon4:c.A403G:p.M135V;	0.00267014965374065	0.03
18	39550292	A	T	18	41970328	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.A403T:p.M135L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.A403T:p.M135L;ENSG00000078142:ENST00000398870:exon3:c.A214T:p.M72L;ENSG00000078142:ENST00000586545:exon4:c.A403T:p.M135L;	0.0207253302147117	0.344
18	39550418	A	C	18	41970454	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.A529C:p.K177Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.A529C:p.K177Q;ENSG00000078142:ENST00000398870:exon3:c.A340C:p.K114Q;ENSG00000078142:ENST00000586545:exon4:c.A529C:p.K177Q;	0.461344123136821	0.612
18	39550418	A	G	18	41970454	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.A529G:p.K177E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.A529G:p.K177E;ENSG00000078142:ENST00000398870:exon3:c.A340G:p.K114E;ENSG00000078142:ENST00000586545:exon4:c.A529G:p.K177E;	0.0365769426326608	0.41
18	39550418	A	T	18	41970454	y	n	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon4:c.A529T:p.K177X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon4:c.A529T:p.K177X;ENSG00000078142:ENST00000398870:exon3:c.A340T:p.K114X;ENSG00000078142:ENST00000586545:exon4:c.A529T:p.K177X;	0.975624052387514	0.768
18	39550419	A	C	18	41970455	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.A530C:p.K177T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.A530C:p.K177T;ENSG00000078142:ENST00000398870:exon3:c.A341C:p.K114T;ENSG00000078142:ENST00000586545:exon4:c.A530C:p.K177T;	0.995188824683668	0.96
18	39550419	A	G	18	41970455	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.A530G:p.K177R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.A530G:p.K177R;ENSG00000078142:ENST00000398870:exon3:c.A341G:p.K114R;ENSG00000078142:ENST00000586545:exon4:c.A530G:p.K177R;	0.999789861867986	0.988
18	39550419	A	T	18	41970455	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.A530T:p.K177M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.A530T:p.K177M;ENSG00000078142:ENST00000398870:exon3:c.A341T:p.K114M;ENSG00000078142:ENST00000586545:exon4:c.A530T:p.K177M;	0.999553678898701	0.988
18	39550420	G	A	18	41970456	y	n	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon4:c.G531A:p.K177K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.G531A:p.K177K;ENSG00000078142:ENST00000398870:exon3:c.G342A:p.K114K;ENSG00000078142:ENST00000586545:exon4:c.G531A:p.K177K;	0.999979733551425	1.0
18	39550420	G	C	18	41970456	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.G531C:p.K177N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.G531C:p.K177N;ENSG00000078142:ENST00000398870:exon3:c.G342C:p.K114N;ENSG00000078142:ENST00000586545:exon4:c.G531C:p.K177N;	0.999997852716802	1.0
18	39550420	G	T	18	41970456	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon4:c.G531T:p.K177N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon4:c.G531T:p.K177N;ENSG00000078142:ENST00000398870:exon3:c.G342T:p.K114N;ENSG00000078142:ENST00000586545:exon4:c.G531T:p.K177N;	0.999990846406755	0.994
18	39550421	G	A	18	41970457	y	n	splicing	PIK3C3(NM_002647:exon4:c.531+1G>A)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon4:c.531+1G>A;ENST00000398870:exon3:c.342+1G>A;ENST00000591011:exon3:c.394+1G>A)	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.G532A:p.V178I;	0.999986675681007	0.936
18	39550421	G	C	18	41970457	y	n	splicing	PIK3C3(NM_002647:exon4:c.531+1G>C)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon4:c.531+1G>C;ENST00000398870:exon3:c.342+1G>C;ENST00000591011:exon3:c.394+1G>C)	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.G532C:p.V178L;	0.999986675681007	0.936
18	39550421	G	T	18	41970457	y	n	splicing	PIK3C3(NM_002647:exon4:c.531+1G>T)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon4:c.531+1G>T;ENST00000398870:exon3:c.342+1G>T;ENST00000591011:exon3:c.394+1G>T)	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.G532T:p.V178L;	0.999986675681007	0.936
18	39550422	T	A	18	41970458	y	n	splicing	PIK3C3(NM_002647:exon4:c.531+2T>A)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon4:c.531+2T>A;ENST00000398870:exon3:c.342+2T>A;ENST00000591011:exon3:c.394+2T>A)	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.T533A:p.V178E;	0.999990155693597	0.928
18	39550422	T	C	18	41970458	y	n	splicing	PIK3C3(NM_002647:exon4:c.531+2T>C)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon4:c.531+2T>C;ENST00000398870:exon3:c.342+2T>C;ENST00000591011:exon3:c.394+2T>C)	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.T533C:p.V178A;	0.985197608939818	0.602
18	39550422	T	G	18	41970458	y	n	splicing	PIK3C3(NM_002647:exon4:c.531+2T>G)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon4:c.531+2T>G;ENST00000398870:exon3:c.342+2T>G;ENST00000591011:exon3:c.394+2T>G)	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.T533G:p.V178G;	0.999990155693597	0.926
18	39550423	A	C	18	41970459	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A534C:p.V178V;	0.997954049993991	0.7
18	39550423	A	G	18	41970459	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A534G:p.V178V;	0.42267222072791	0.464
18	39550423	A	T	18	41970459	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A534T:p.V178V;	0.994704154307807	0.672
18	39550424	A	C	18	41970460	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A535C:p.K179Q;	0.0679592233082259	0.458
18	39550424	A	G	18	41970460	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A535G:p.K179E;	0.158947769544518	0.484
18	39550424	A	T	18	41970460	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000586545:exon4:c.A535T:p.K179X;	0.212363624752635	0.466
18	39550425	A	C	18	41970461	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A536C:p.K179T;	6.76252109867453E-5	0.022
18	39550425	A	G	18	41970461	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A536G:p.K179R;	3.49733954965773E-5	0.008
18	39550425	A	T	18	41970461	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A536T:p.K179I;	8.74757946336119E-5	0.006
18	39550426	A	C	18	41970462	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A537C:p.K179N;	2.03050218543624E-4	0.024
18	39550426	A	G	18	41970462	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A537G:p.K179K;	3.65050500653879E-5	0.002
18	39550426	A	T	18	41970462	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A537T:p.K179N;	1.00902375647852E-4	0.008
18	39550427	A	C	18	41970463	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A538C:p.K180Q;	3.53667826110253E-5	0.0
18	39550427	A	G	18	41970463	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A538G:p.K180E;	4.9320323717702E-5	0.002
18	39550427	A	T	18	41970463	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000586545:exon4:c.A538T:p.K180X;	1.13466159096364E-4	0.006
18	39550428	A	C	18	41970464	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A539C:p.K180T;	3.30477579161392E-5	0.0
18	39550428	A	G	18	41970464	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A539G:p.K180R;	5.73659410988803E-5	0.0
18	39550428	A	T	18	41970464	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000586545:exon4:c.A539T:p.K180I;	5.73659410988803E-5	0.0
18	39564832	G	A	18	41984868	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.65388135286213E-5	0.0
18	39564832	G	C	18	41984868	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.65388135286213E-5	0.0
18	39564832	G	T	18	41984868	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.65388135286213E-5	0.0
18	39564833	T	A	18	41984869	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.82827935381688E-5	0.004
18	39564833	T	C	18	41984869	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.82827935381688E-5	0.006
18	39564833	T	G	18	41984869	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.82827935381688E-5	0.006
18	39564834	T	A	18	41984870	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.08802802279601E-5	0.004
18	39564834	T	C	18	41984870	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.78864525412067E-5	0.0
18	39564834	T	G	18	41984870	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.78864525412067E-5	0.0
18	39564835	A	C	18	41984871	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.68622737106591E-5	0.002
18	39564835	A	G	18	41984871	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.68622737106591E-5	0.002
18	39564835	A	T	18	41984871	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.68622737106591E-5	0.002
18	39564836	T	A	18	41984872	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.79022420352036E-5	0.004
18	39564836	T	C	18	41984872	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.79022420352036E-5	0.004
18	39564836	T	G	18	41984872	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.79022420352036E-5	0.004
18	39564837	A	C	18	41984873	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.80274866394675E-5	0.0
18	39564837	A	G	18	41984873	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.80274866394675E-5	0.0
18	39564837	A	T	18	41984873	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.80274866394675E-5	0.0
18	39564838	A	C	18	41984874	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.78929785447708E-5	0.004
18	39564838	A	G	18	41984874	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.78929785447708E-5	0.004
18	39564838	A	T	18	41984874	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.78929785447708E-5	0.004
18	39564839	T	A	18	41984875	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.16770149425671E-4	0.002
18	39564839	T	C	18	41984875	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.16770149425671E-4	0.002
18	39564839	T	G	18	41984875	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.16770149425671E-4	0.002
18	39564840	G	A	18	41984876	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.28482898384571E-5	0.0
18	39564840	G	C	18	41984876	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.28482898384571E-5	0.006
18	39564840	G	T	18	41984876	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.28482898384571E-5	0.008
18	39564841	C	A	18	41984877	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.41725899136652E-5	0.008
18	39564841	C	G	18	41984877	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.41725899136652E-5	0.006
18	39564841	C	T	18	41984877	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.41725899136652E-5	0.052
18	39564842	A	C	18	41984878	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.395-2A>C)	.	.	3.78205327723092E-5	0.008
18	39564842	A	G	18	41984878	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.395-2A>G)	.	.	3.78205327723092E-5	0.008
18	39564842	A	T	18	41984878	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.395-2A>T)	.	.	2.82827935381688E-5	0.004
18	39564843	G	A	18	41984879	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.395-1G>A)	.	.	5.25860295704321E-5	0.012
18	39564843	G	C	18	41984879	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.395-1G>C)	.	.	5.25860295704321E-5	0.008
18	39564843	G	T	18	41984879	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.395-1G>T)	.	.	5.25860295704321E-5	0.008
18	39564844	C	A	18	41984880	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	4.68952365742707E-5	0.006
18	39564844	C	G	18	41984880	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	4.68952365742707E-5	0.006
18	39564844	C	T	18	41984880	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	4.68952365742707E-5	0.01
18	39564845	A	C	18	41984881	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	5.08291490468438E-5	0.006
18	39564845	A	G	18	41984881	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	5.08291490468438E-5	0.006
18	39564845	A	T	18	41984881	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	unknown	UNKNOWN	3.80109675654916E-5	0.01
18	39565069	A	C	18	41985105	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	2.78929785447708E-5	0.006
18	39565069	A	G	18	41985105	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	2.78929785447708E-5	0.006
18	39565069	A	T	18	41985105	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	2.78929785447708E-5	0.006
18	39565070	A	C	18	41985106	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.80274866394675E-5	0.0
18	39565070	A	G	18	41985106	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.80274866394675E-5	0.0
18	39565070	A	T	18	41985106	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.27663100932972E-5	0.0
18	39565071	T	A	18	41985107	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	9.33930376896499E-5	0.0
18	39565071	T	C	18	41985107	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	9.33930376896499E-5	0.0
18	39565071	T	G	18	41985107	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	9.33930376896499E-5	0.0
18	39565072	G	A	18	41985108	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.622+1G>A)	.	.	5.08291490468438E-5	0.012
18	39565072	G	C	18	41985108	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.622+1G>C)	.	.	5.08291490468438E-5	0.008
18	39565072	G	T	18	41985108	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.622+1G>T)	.	.	5.08291490468438E-5	0.008
18	39565073	T	A	18	41985109	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.622+2T>A)	.	.	6.67864951622834E-4	0.0
18	39565073	T	C	18	41985109	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.622+2T>C)	.	.	6.67864951622834E-4	0.0
18	39565073	T	G	18	41985109	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000591011:exon4:c.622+2T>G)	.	.	6.67864951622834E-4	0.0
18	39565074	G	A	18	41985110	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.75571173068894E-4	0.004
18	39565074	G	C	18	41985110	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.52773432237745E-4	0.004
18	39565074	G	T	18	41985110	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.52773432237745E-4	0.004
18	39565075	A	C	18	41985111	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.54291542054858E-4	0.002
18	39565075	A	G	18	41985111	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.54291542054858E-4	0.002
18	39565075	A	T	18	41985111	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.67864951622834E-4	0.0
18	39565076	G	A	18	41985112	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.3994564522384E-5	0.016
18	39565076	G	C	18	41985112	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.20862408805592E-5	0.058
18	39565076	G	T	18	41985112	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.3994564522384E-5	0.022
18	39565077	T	A	18	41985113	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.28207984957438E-5	0.0
18	39565077	T	C	18	41985113	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.28207984957438E-5	0.0
18	39565077	T	G	18	41985113	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.28207984957438E-5	0.0
18	39565078	A	C	18	41985114	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.47039489069415E-5	0.0
18	39565078	A	G	18	41985114	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.47039489069415E-5	0.0
18	39565078	A	T	18	41985114	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.552751562108E-5	0.004
18	39565079	A	C	18	41985115	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.3994564522384E-5	0.012
18	39565079	A	G	18	41985115	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.3994564522384E-5	0.012
18	39565079	A	T	18	41985115	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.3994564522384E-5	0.008
18	39567764	T	A	18	41987800	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0160357416843362	0.382
18	39567764	T	C	18	41987800	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0029816621733469	0.122
18	39567764	T	G	18	41987800	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999474619722458	0.982
18	39567765	T	A	18	41987801	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.21752244565315	0.466
18	39567765	T	C	18	41987801	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.1314568744622E-4	0.066
18	39567765	T	G	18	41987801	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.472066941392181	0.438
18	39567766	T	A	18	41987802	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.862569923230547	0.6
18	39567766	T	C	18	41987802	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0389466699244193	0.156
18	39567766	T	G	18	41987802	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.704288689956694	0.606
18	39567767	A	C	18	41987803	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.29474545544748E-5	0.002
18	39567767	A	G	18	41987803	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.27226434820012E-5	0.0
18	39567767	A	T	18	41987803	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.81790551262478E-5	0.008
18	39567768	T	A	18	41987804	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0483456500656146	0.188
18	39567768	T	C	18	41987804	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.01992279531559E-4	0.014
18	39567768	T	G	18	41987804	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999776080552327	0.974
18	39567769	T	A	18	41987805	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.290172532504671	0.408
18	39567769	T	C	18	41987805	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.95673471376259E-4	0.012
18	39567769	T	G	18	41987805	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.216176293569752	0.326
18	39567770	C	A	18	41987806	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00132330243193436	0.156
18	39567770	C	G	18	41987806	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00108206020902323	0.142
18	39567770	C	T	18	41987806	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.27784374907154E-4	0.002
18	39567771	T	A	18	41987807	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999554268779423	0.962
18	39567771	T	C	18	41987807	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00221133804837854	0.108
18	39567771	T	G	18	41987807	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.884009094747983	0.664
18	39567772	G	A	18	41987808	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.40058499574576E-5	0.0
18	39567772	G	C	18	41987808	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.12283078040743E-5	0.0
18	39567772	G	T	18	41987808	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.26256732489732E-5	0.002
18	39567773	C	A	18	41987809	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.990802693674383	0.828
18	39567773	C	G	18	41987809	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999558151178259	0.978
18	39567773	C	T	18	41987809	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0220565281554811	0.148
18	39567774	A	C	18	41987810	y	y	splicing	PIK3C3(NM_002647:exon5:c.532-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.532-2A>C;ENST00000398870:exon4:c.343-2A>C;ENST00000591011:exon5:c.623-2A>C)	.	.	0.999988247793601	0.93
18	39567774	A	G	18	41987810	y	y	splicing	PIK3C3(NM_002647:exon5:c.532-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.532-2A>G;ENST00000398870:exon4:c.343-2A>G;ENST00000591011:exon5:c.623-2A>G)	.	.	0.999988247793601	0.93
18	39567774	A	T	18	41987810	y	y	splicing	PIK3C3(NM_002647:exon5:c.532-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.532-2A>T;ENST00000398870:exon4:c.343-2A>T;ENST00000591011:exon5:c.623-2A>T)	.	.	0.999988247793601	0.93
18	39567775	G	A	18	41987811	y	y	splicing	PIK3C3(NM_002647:exon5:c.532-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.532-1G>A;ENST00000398870:exon4:c.343-1G>A;ENST00000591011:exon5:c.623-1G>A)	.	.	0.999990361384395	0.938
18	39567775	G	C	18	41987811	y	y	splicing	PIK3C3(NM_002647:exon5:c.532-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.532-1G>C;ENST00000398870:exon4:c.343-1G>C;ENST00000591011:exon5:c.623-1G>C)	.	.	0.999990361384395	0.938
18	39567775	G	T	18	41987811	y	y	splicing	PIK3C3(NM_002647:exon5:c.532-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.532-1G>T;ENST00000398870:exon4:c.343-1G>T;ENST00000591011:exon5:c.623-1G>T)	.	.	0.999990361384395	0.938
18	39567776	C	A	18	41987812	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.C532A:p.L178I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.C532A:p.L178I;ENSG00000078142:ENST00000398870:exon4:c.C343A:p.L115I;	0.973066742689506	0.772
18	39567776	C	G	18	41987812	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.C532G:p.L178V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.C532G:p.L178V;ENSG00000078142:ENST00000398870:exon4:c.C343G:p.L115V;	0.969316529921659	0.682
18	39567776	C	T	18	41987812	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.C532T:p.L178F;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.C532T:p.L178F;ENSG00000078142:ENST00000398870:exon4:c.C343T:p.L115F;	0.994873941042843	0.93
18	39567777	T	A	18	41987813	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.T533A:p.L178H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.T533A:p.L178H;ENSG00000078142:ENST00000398870:exon4:c.T344A:p.L115H;	0.936127997590748	0.478
18	39567777	T	C	18	41987813	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.T533C:p.L178P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.T533C:p.L178P;ENSG00000078142:ENST00000398870:exon4:c.T344C:p.L115P;	0.878839534933242	0.504
18	39567777	T	G	18	41987813	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.T533G:p.L178R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.T533G:p.L178R;ENSG00000078142:ENST00000398870:exon4:c.T344G:p.L115R;	0.924054014602935	0.488
18	39567860	G	A	18	41987896	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.G616A:p.E206K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.G616A:p.E206K;ENSG00000078142:ENST00000398870:exon4:c.G427A:p.E143K;	0.964139006594684	0.77
18	39567860	G	C	18	41987896	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.G616C:p.E206Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.G616C:p.E206Q;ENSG00000078142:ENST00000398870:exon4:c.G427C:p.E143Q;	0.953978329332194	0.734
18	39567860	G	T	18	41987896	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon5:c.G616T:p.E206X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon5:c.G616T:p.E206X;ENSG00000078142:ENST00000398870:exon4:c.G427T:p.E143X;	0.986568125178214	0.842
18	39567861	A	C	18	41987897	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.A617C:p.E206A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.A617C:p.E206A;ENSG00000078142:ENST00000398870:exon4:c.A428C:p.E143A;	0.999590347594907	0.976
18	39567861	A	G	18	41987897	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.A617G:p.E206G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.A617G:p.E206G;ENSG00000078142:ENST00000398870:exon4:c.A428G:p.E143G;	0.999922613326587	1.0
18	39567861	A	T	18	41987897	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.A617T:p.E206V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.A617T:p.E206V;ENSG00000078142:ENST00000398870:exon4:c.A428T:p.E143V;	0.999957369097882	1.0
18	39567862	G	A	18	41987898	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon5:c.G618A:p.E206E;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.G618A:p.E206E;ENSG00000078142:ENST00000398870:exon4:c.G429A:p.E143E;	0.999826413500207	0.994
18	39567862	G	C	18	41987898	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.G618C:p.E206D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.G618C:p.E206D;ENSG00000078142:ENST00000398870:exon4:c.G429C:p.E143D;	0.999989206456893	1.0
18	39567862	G	T	18	41987898	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon5:c.G618T:p.E206D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon5:c.G618T:p.E206D;ENSG00000078142:ENST00000398870:exon4:c.G429T:p.E143D;	0.999988346652381	0.998
18	39567863	G	A	18	41987899	y	y	splicing	PIK3C3(NM_002647:exon5:c.618+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.618+1G>A;ENST00000398870:exon4:c.429+1G>A)	.	.	0.999990361384395	0.944
18	39567863	G	C	18	41987899	y	y	splicing	PIK3C3(NM_002647:exon5:c.618+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.618+1G>C;ENST00000398870:exon4:c.429+1G>C)	.	.	0.999990361384395	0.944
18	39567863	G	T	18	41987899	y	y	splicing	PIK3C3(NM_002647:exon5:c.618+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.618+1G>T;ENST00000398870:exon4:c.429+1G>T)	.	.	0.999990361384395	0.944
18	39567864	T	A	18	41987900	y	y	splicing	PIK3C3(NM_002647:exon5:c.618+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.618+2T>A;ENST00000398870:exon4:c.429+2T>A)	.	.	0.999988247793601	0.934
18	39567864	T	C	18	41987900	y	y	splicing	PIK3C3(NM_002647:exon5:c.618+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.618+2T>C;ENST00000398870:exon4:c.429+2T>C)	.	.	0.999929727175276	0.872
18	39567864	T	G	18	41987900	y	y	splicing	PIK3C3(NM_002647:exon5:c.618+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon5:c.618+2T>G;ENST00000398870:exon4:c.429+2T>G)	.	.	0.999988247793601	0.934
18	39567865	G	A	18	41987901	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.82497472845875E-4	0.084
18	39567865	G	C	18	41987901	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0286034130682615	0.268
18	39567865	G	T	18	41987901	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0265382478606174	0.202
18	39567866	G	A	18	41987902	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.16603009770308E-4	0.07
18	39567866	G	C	18	41987902	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.00861184769655E-5	0.016
18	39567866	G	T	18	41987902	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.05280704892632E-5	0.006
18	39567867	G	A	18	41987903	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999961846630403	0.986
18	39567867	G	C	18	41987903	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999954206621715	0.956
18	39567867	G	T	18	41987903	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99994934629191	0.988
18	39567868	T	A	18	41987904	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.98143221939423	0.704
18	39567868	T	C	18	41987904	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.283581310187633	0.432
18	39567868	T	G	18	41987904	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.931276108194698	0.666
18	39567869	T	A	18	41987905	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.17968435241841E-5	0.004
18	39567869	T	C	18	41987905	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.79416880097828E-4	0.002
18	39567869	T	G	18	41987905	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.67021552660955E-4	0.0
18	39567870	A	C	18	41987906	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.07256548728156E-5	0.002
18	39567870	A	G	18	41987906	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.0983980231456E-4	0.018
18	39567870	A	T	18	41987906	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.42513842174336E-5	0.002
18	39570411	T	A	18	41990447	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0837535448049787	0.296
18	39570411	T	C	18	41990447	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00896678162052219	0.052
18	39570411	T	G	18	41990447	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0143161103558708	0.23
18	39570412	T	A	18	41990448	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00264750651945249	0.12
18	39570412	T	C	18	41990448	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.30564186446066E-4	0.016
18	39570412	T	G	18	41990448	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.25358559828085E-4	0.04
18	39570413	T	A	18	41990449	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00915192261675482	0.148
18	39570413	T	C	18	41990449	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.39976764746101E-4	0.016
18	39570413	T	G	18	41990449	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00807584741604265	0.116
18	39570414	T	A	18	41990450	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.70486064979399E-4	0.068
18	39570414	T	C	18	41990450	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.89641255551494E-4	0.004
18	39570414	T	G	18	41990450	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.98460669103057E-4	0.084
18	39570415	T	A	18	41990451	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00394453655897488	0.128
18	39570415	T	C	18	41990451	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.13743089997412E-4	0.012
18	39570415	T	G	18	41990451	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00133082314978587	0.09
18	39570416	T	A	18	41990452	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.90325161406971E-4	0.0
18	39570416	T	C	18	41990452	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.920248979606E-5	0.0
18	39570416	T	G	18	41990452	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.8262574016373E-5	0.016
18	39570417	T	A	18	41990453	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0155286835334651	0.194
18	39570417	T	C	18	41990453	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.08907319385015E-4	0.01
18	39570417	T	G	18	41990453	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0334536728663167	0.204
18	39570418	T	A	18	41990454	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00281579045454214	0.218
18	39570418	T	C	18	41990454	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.12741117033775E-4	0.082
18	39570418	T	G	18	41990454	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00903915117643068	0.282
18	39570419	T	A	18	41990455	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.06167213196838E-5	0.002
18	39570419	T	C	18	41990455	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.30282403442313E-5	0.002
18	39570419	T	G	18	41990455	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.21155316515546E-5	0.0
18	39570420	C	A	18	41990456	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.351050543421204	0.384
18	39570420	C	G	18	41990456	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99689258205329	0.752
18	39570420	C	T	18	41990456	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.00746602898731E-4	0.006
18	39570421	A	C	18	41990457	y	y	splicing	PIK3C3(NM_002647:exon6:c.619-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.619-2A>C;ENST00000398870:exon5:c.430-2A>C)	.	.	0.999988247793601	0.926
18	39570421	A	G	18	41990457	y	y	splicing	PIK3C3(NM_002647:exon6:c.619-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.619-2A>G;ENST00000398870:exon5:c.430-2A>G)	.	.	0.999988247793601	0.926
18	39570421	A	T	18	41990457	y	y	splicing	PIK3C3(NM_002647:exon6:c.619-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.619-2A>T;ENST00000398870:exon5:c.430-2A>T)	.	.	0.999988247793601	0.926
18	39570422	G	A	18	41990458	y	y	splicing	PIK3C3(NM_002647:exon6:c.619-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.619-1G>A;ENST00000398870:exon5:c.430-1G>A)	.	.	0.999986675681007	0.932
18	39570422	G	C	18	41990458	y	y	splicing	PIK3C3(NM_002647:exon6:c.619-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.619-1G>C;ENST00000398870:exon5:c.430-1G>C)	.	.	0.999986675681007	0.932
18	39570422	G	T	18	41990458	y	y	splicing	PIK3C3(NM_002647:exon6:c.619-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.619-1G>T;ENST00000398870:exon5:c.430-1G>T)	.	.	0.999986675681007	0.932
18	39570423	A	C	18	41990459	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.A619C:p.S207R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.A619C:p.S207R;ENSG00000078142:ENST00000398870:exon5:c.A430C:p.S144R;	0.0015787136325745	0.04
18	39570423	A	G	18	41990459	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.A619G:p.S207G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.A619G:p.S207G;ENSG00000078142:ENST00000398870:exon5:c.A430G:p.S144G;	0.00495308555025969	0.068
18	39570423	A	T	18	41990459	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.A619T:p.S207C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.A619T:p.S207C;ENSG00000078142:ENST00000398870:exon5:c.A430T:p.S144C;	0.181472403761927	0.51
18	39570424	G	A	18	41990460	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.G620A:p.S207N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.G620A:p.S207N;ENSG00000078142:ENST00000398870:exon5:c.G431A:p.S144N;	0.0126690836740293	0.102
18	39570424	G	C	18	41990460	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.G620C:p.S207T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.G620C:p.S207T;ENSG00000078142:ENST00000398870:exon5:c.G431C:p.S144T;	0.00372806001222973	0.08
18	39570424	G	T	18	41990460	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.G620T:p.S207I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.G620T:p.S207I;ENSG00000078142:ENST00000398870:exon5:c.G431T:p.S144I;	0.546272822674987	0.608
18	39570516	A	C	18	41990552	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.A712C:p.K238Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.A712C:p.K238Q;ENSG00000078142:ENST00000398870:exon5:c.A523C:p.K175Q;	0.533110204433635	0.59
18	39570516	A	G	18	41990552	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.A712G:p.K238E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.A712G:p.K238E;ENSG00000078142:ENST00000398870:exon5:c.A523G:p.K175E;	0.148134294772963	0.37
18	39570516	A	T	18	41990552	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon6:c.A712T:p.K238X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon6:c.A712T:p.K238X;ENSG00000078142:ENST00000398870:exon5:c.A523T:p.K175X;	0.997997045039659	0.86
18	39570517	A	C	18	41990553	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.A713C:p.K238T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.A713C:p.K238T;ENSG00000078142:ENST00000398870:exon5:c.A524C:p.K175T;	0.999823471181436	0.988
18	39570517	A	G	18	41990553	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.A713G:p.K238R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.A713G:p.K238R;ENSG00000078142:ENST00000398870:exon5:c.A524G:p.K175R;	0.99977493817398	0.992
18	39570517	A	T	18	41990553	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.A713T:p.K238M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.A713T:p.K238M;ENSG00000078142:ENST00000398870:exon5:c.A524T:p.K175M;	0.999943374308691	0.998
18	39570518	G	A	18	41990554	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon6:c.G714A:p.K238K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.G714A:p.K238K;ENSG00000078142:ENST00000398870:exon5:c.G525A:p.K175K;	0.999970247503215	1.0
18	39570518	G	C	18	41990554	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.G714C:p.K238N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.G714C:p.K238N;ENSG00000078142:ENST00000398870:exon5:c.G525C:p.K175N;	0.99999748506661	0.996
18	39570518	G	T	18	41990554	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon6:c.G714T:p.K238N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon6:c.G714T:p.K238N;ENSG00000078142:ENST00000398870:exon5:c.G525T:p.K175N;	0.999993456460832	0.988
18	39570519	G	A	18	41990555	y	y	splicing	PIK3C3(NM_002647:exon6:c.714+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.714+1G>A;ENST00000398870:exon5:c.525+1G>A)	.	.	0.999986675681007	0.932
18	39570519	G	C	18	41990555	y	y	splicing	PIK3C3(NM_002647:exon6:c.714+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.714+1G>C;ENST00000398870:exon5:c.525+1G>C)	.	.	0.999986675681007	0.932
18	39570519	G	T	18	41990555	y	y	splicing	PIK3C3(NM_002647:exon6:c.714+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.714+1G>T;ENST00000398870:exon5:c.525+1G>T)	.	.	0.999986675681007	0.932
18	39570520	T	A	18	41990556	y	y	splicing	PIK3C3(NM_002647:exon6:c.714+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.714+2T>A;ENST00000398870:exon5:c.525+2T>A)	.	.	0.999988247793601	0.928
18	39570520	T	C	18	41990556	y	y	splicing	PIK3C3(NM_002647:exon6:c.714+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.714+2T>C;ENST00000398870:exon5:c.525+2T>C)	.	.	0.994669226766359	0.67
18	39570520	T	G	18	41990556	y	y	splicing	PIK3C3(NM_002647:exon6:c.714+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon6:c.714+2T>G;ENST00000398870:exon5:c.525+2T>G)	.	.	0.999988247793601	0.928
18	39570521	A	C	18	41990557	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999966531638642	0.962
18	39570521	A	G	18	41990557	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999883250248911	0.964
18	39570521	A	T	18	41990557	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999589274215364	0.992
18	39570522	T	A	18	41990558	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00189294457170149	0.032
18	39570522	T	C	18	41990558	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0315756287148309	0.192
18	39570522	T	G	18	41990558	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00296248325238095	0.108
18	39570523	T	A	18	41990559	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00212235228204281	0.008
18	39570523	T	C	18	41990559	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0051742824135099	0.034
18	39570523	T	G	18	41990559	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00116185130873702	0.02
18	39570524	T	A	18	41990560	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.196899532399695	0.29
18	39570524	T	C	18	41990560	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.146045116866486	0.382
18	39570524	T	G	18	41990560	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0257478759572723	0.278
18	39570525	C	A	18	41990561	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.51849708991278E-4	0.002
18	39570525	C	G	18	41990561	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.24005621658832E-4	0.006
18	39570525	C	T	18	41990561	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.57674134142545E-4	0.018
18	39570526	C	A	18	41990562	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0103889571204223	0.058
18	39570526	C	G	18	41990562	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.010557916489263	0.07
18	39570526	C	T	18	41990562	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0129991459752266	0.06
18	39573222	T	A	18	41993258	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00120183390584175	0.274
18	39573222	T	C	18	41993258	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.92047109408304E-5	0.032
18	39573222	T	G	18	41993258	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00109801433935716	0.236
18	39573223	C	A	18	41993259	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.80757551205932E-4	0.06
18	39573223	C	G	18	41993259	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.77460063985084E-4	0.03
18	39573223	C	T	18	41993259	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.42954537825878E-5	0.0
18	39573224	T	A	18	41993260	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999923080308047	0.966
18	39573224	T	C	18	41993260	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00130341751171986	0.154
18	39573224	T	G	18	41993260	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.884612942090807	0.786
18	39573225	G	A	18	41993261	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.58015128666058E-4	0.046
18	39573225	G	C	18	41993261	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.33664462853425E-4	0.032
18	39573225	G	T	18	41993261	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.38813789508791E-4	0.058
18	39573226	T	A	18	41993262	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0954002076364778	0.31
18	39573226	T	C	18	41993262	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.37296558893745E-4	0.004
18	39573226	T	G	18	41993262	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.212326954211982	0.466
18	39573227	A	C	18	41993263	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.15167872343591E-4	0.11
18	39573227	A	G	18	41993263	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.37887715697588E-4	0.022
18	39573227	A	T	18	41993263	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.39649787185737E-4	0.064
18	39573228	A	C	18	41993264	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.55059857652447E-5	0.0
18	39573228	A	G	18	41993264	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997162581720157	0.968
18	39573228	A	T	18	41993264	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.86380382611459E-5	0.014
18	39573229	T	A	18	41993265	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.714532606812126	0.724
18	39573229	T	C	18	41993265	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.077115175965915	0.204
18	39573229	T	G	18	41993265	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999940178628031	0.974
18	39573230	C	A	18	41993266	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.95149986581987E-4	0.07
18	39573230	C	G	18	41993266	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.84877369354091E-4	0.046
18	39573230	C	T	18	41993266	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.51391350679345E-4	0.02
18	39573231	T	A	18	41993267	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00842176315288664	0.318
18	39573231	T	C	18	41993267	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.44855128792922E-4	0.092
18	39573231	T	G	18	41993267	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.721511903784456	0.542
18	39573232	A	C	18	41993268	y	y	splicing	PIK3C3(NM_002647:exon7:c.715-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.715-2A>C;ENST00000398870:exon6:c.526-2A>C)	.	.	0.999986741007567	0.946
18	39573232	A	G	18	41993268	y	y	splicing	PIK3C3(NM_002647:exon7:c.715-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.715-2A>G;ENST00000398870:exon6:c.526-2A>G)	.	.	0.999986741007567	0.946
18	39573232	A	T	18	41993268	y	y	splicing	PIK3C3(NM_002647:exon7:c.715-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.715-2A>T;ENST00000398870:exon6:c.526-2A>T)	.	.	0.999986741007567	0.946
18	39573233	G	A	18	41993269	y	y	splicing	PIK3C3(NM_002647:exon7:c.715-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.715-1G>A;ENST00000398870:exon6:c.526-1G>A)	.	.	0.999989125585301	0.944
18	39573233	G	C	18	41993269	y	y	splicing	PIK3C3(NM_002647:exon7:c.715-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.715-1G>C;ENST00000398870:exon6:c.526-1G>C)	.	.	0.999989125585301	0.944
18	39573233	G	T	18	41993269	y	y	splicing	PIK3C3(NM_002647:exon7:c.715-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.715-1G>T;ENST00000398870:exon6:c.526-1G>T)	.	.	0.999989125585301	0.944
18	39573234	G	A	18	41993270	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.G715A:p.D239N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.G715A:p.D239N;ENSG00000078142:ENST00000398870:exon6:c.G526A:p.D176N;	0.999897994416271	0.972
18	39573234	G	C	18	41993270	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.G715C:p.D239H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.G715C:p.D239H;ENSG00000078142:ENST00000398870:exon6:c.G526C:p.D176H;	0.999931621211309	0.982
18	39573234	G	T	18	41993270	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.G715T:p.D239Y;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.G715T:p.D239Y;ENSG00000078142:ENST00000398870:exon6:c.G526T:p.D176Y;	0.999961737834153	0.994
18	39573235	A	C	18	41993271	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.A716C:p.D239A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.A716C:p.D239A;ENSG00000078142:ENST00000398870:exon6:c.A527C:p.D176A;	0.938473228778344	0.816
18	39573235	A	G	18	41993271	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.A716G:p.D239G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.A716G:p.D239G;ENSG00000078142:ENST00000398870:exon6:c.A527G:p.D176G;	0.934111643566989	0.596
18	39573235	A	T	18	41993271	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.A716T:p.D239V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.A716T:p.D239V;ENSG00000078142:ENST00000398870:exon6:c.A527T:p.D176V;	0.919482099978796	0.772
18	39573303	A	C	18	41993339	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.A784C:p.M262L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.A784C:p.M262L;ENSG00000078142:ENST00000398870:exon6:c.A595C:p.M199L;	0.00257125791684237	0.036
18	39573303	A	G	18	41993339	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.A784G:p.M262V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.A784G:p.M262V;ENSG00000078142:ENST00000398870:exon6:c.A595G:p.M199V;	0.00820436707972164	0.102
18	39573303	A	T	18	41993339	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.A784T:p.M262L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.A784T:p.M262L;ENSG00000078142:ENST00000398870:exon6:c.A595T:p.M199L;	0.146313134656159	0.214
18	39573304	T	A	18	41993340	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.T785A:p.M262K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.T785A:p.M262K;ENSG00000078142:ENST00000398870:exon6:c.T596A:p.M199K;	0.00239791590084158	0.076
18	39573304	T	C	18	41993340	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.T785C:p.M262T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.T785C:p.M262T;ENSG00000078142:ENST00000398870:exon6:c.T596C:p.M199T;	0.0435588242329262	0.124
18	39573304	T	G	18	41993340	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.T785G:p.M262R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.T785G:p.M262R;ENSG00000078142:ENST00000398870:exon6:c.T596G:p.M199R;	0.00479637147981261	0.118
18	39573305	G	A	18	41993341	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.G786A:p.M262I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.G786A:p.M262I;ENSG00000078142:ENST00000398870:exon6:c.G597A:p.M199I;	0.999947114232513	0.974
18	39573305	G	C	18	41993341	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.G786C:p.M262I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.G786C:p.M262I;ENSG00000078142:ENST00000398870:exon6:c.G597C:p.M199I;	0.999861259226944	0.954
18	39573305	G	T	18	41993341	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon7:c.G786T:p.M262I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon7:c.G786T:p.M262I;ENSG00000078142:ENST00000398870:exon6:c.G597T:p.M199I;	0.999762473786895	0.964
18	39573306	G	A	18	41993342	y	y	splicing	PIK3C3(NM_002647:exon7:c.786+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.786+1G>A;ENST00000398870:exon6:c.597+1G>A)	.	.	0.999990361384395	0.938
18	39573306	G	C	18	41993342	y	y	splicing	PIK3C3(NM_002647:exon7:c.786+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.786+1G>C;ENST00000398870:exon6:c.597+1G>C)	.	.	0.999990361384395	0.938
18	39573306	G	T	18	41993342	y	y	splicing	PIK3C3(NM_002647:exon7:c.786+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.786+1G>T;ENST00000398870:exon6:c.597+1G>T)	.	.	0.999990361384395	0.938
18	39573307	T	A	18	41993343	y	y	splicing	PIK3C3(NM_002647:exon7:c.786+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.786+2T>A;ENST00000398870:exon6:c.597+2T>A)	.	.	0.999988247793601	0.932
18	39573307	T	C	18	41993343	y	y	splicing	PIK3C3(NM_002647:exon7:c.786+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.786+2T>C;ENST00000398870:exon6:c.597+2T>C)	.	.	0.99340600729494	0.696
18	39573307	T	G	18	41993343	y	y	splicing	PIK3C3(NM_002647:exon7:c.786+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon7:c.786+2T>G;ENST00000398870:exon6:c.597+2T>G)	.	.	0.999988247793601	0.932
18	39573308	A	C	18	41993344	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.995222609306705	0.782
18	39573308	A	G	18	41993344	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00360514878951343	0.122
18	39573308	A	T	18	41993344	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.952214668494822	0.702
18	39573309	A	C	18	41993345	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.301030080743507	0.294
18	39573309	A	G	18	41993345	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.395572166262165	0.474
18	39573309	A	T	18	41993345	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.664504306580259	0.418
18	39573310	G	A	18	41993346	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998791751150598	0.882
18	39573310	G	C	18	41993346	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.994883076323691	0.732
18	39573310	G	T	18	41993346	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.994412447628585	0.814
18	39573311	T	A	18	41993347	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00508398401827642	0.064
18	39573311	T	C	18	41993347	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00325712070324821	0.086
18	39573311	T	G	18	41993347	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.0200982341195E-4	0.074
18	39573312	T	A	18	41993348	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.2679318409745E-5	0.008
18	39573312	T	C	18	41993348	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.3995392500311E-5	0.0
18	39573312	T	G	18	41993348	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.455930068921E-5	0.0
18	39573313	A	C	18	41993349	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.11458344309416E-5	0.0
18	39573313	A	G	18	41993349	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.67917495862859E-5	0.0
18	39573313	A	T	18	41993349	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.11458344309416E-5	0.0
18	39575842	A	C	18	41995878	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.465773921825874	0.53
18	39575842	A	G	18	41995878	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99977755750354	0.924
18	39575842	A	T	18	41995878	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.448147477034274	0.486
18	39575843	A	C	18	41995879	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.465773921825874	0.558
18	39575843	A	G	18	41995879	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999718929253328	0.904
18	39575843	A	T	18	41995879	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.532422341604527	0.534
18	39575844	T	A	18	41995880	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.956084388940234	0.77
18	39575844	T	C	18	41995880	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0549676818804483	0.354
18	39575844	T	G	18	41995880	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99964414076869	0.904
18	39575845	A	C	18	41995881	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.3935005734034E-4	0.16
18	39575845	A	G	18	41995881	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.38469928391891E-4	0.116
18	39575845	A	T	18	41995881	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.3930765805961E-4	0.202
18	39575846	A	C	18	41995882	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.00477772561553E-4	0.022
18	39575846	A	G	18	41995882	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999010803641606	0.936
18	39575846	A	T	18	41995882	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.92572488802277E-4	0.018
18	39575847	T	A	18	41995883	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0336655043553267	0.198
18	39575847	T	C	18	41995883	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.53304046029391E-4	0.016
18	39575847	T	G	18	41995883	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999465917518022	0.94
18	39575848	T	A	18	41995884	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.973944816725237	0.77
18	39575848	T	C	18	41995884	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00896819605075971	0.16
18	39575848	T	G	18	41995884	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.952225661494273	0.772
18	39575849	T	A	18	41995885	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999390466828119	0.896
18	39575849	T	C	18	41995885	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0805699833348593	0.25
18	39575849	T	G	18	41995885	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.963219427446224	0.812
18	39575850	G	A	18	41995886	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.58247879620146E-5	0.004
18	39575850	G	C	18	41995886	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.92803956799684E-5	0.01
18	39575850	G	T	18	41995886	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.67495582604195E-5	0.0
18	39575851	T	A	18	41995887	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0104679266621671	0.35
18	39575851	T	C	18	41995887	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.85794625001662E-5	0.048
18	39575851	T	G	18	41995887	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.723333481987632	0.554
18	39575852	A	C	18	41995888	y	y	splicing	PIK3C3(NM_002647:exon8:c.787-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.787-2A>C;ENST00000398870:exon7:c.598-2A>C)	.	.	0.999914511980801	0.886
18	39575852	A	G	18	41995888	y	y	splicing	PIK3C3(NM_002647:exon8:c.787-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.787-2A>G;ENST00000398870:exon7:c.598-2A>G)	.	.	0.999914511980801	0.886
18	39575852	A	T	18	41995888	y	y	splicing	PIK3C3(NM_002647:exon8:c.787-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.787-2A>T;ENST00000398870:exon7:c.598-2A>T)	.	.	0.999914511980801	0.886
18	39575853	G	A	18	41995889	y	y	splicing	PIK3C3(NM_002647:exon8:c.787-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.787-1G>A;ENST00000398870:exon7:c.598-1G>A)	.	.	0.999978115769202	0.882
18	39575853	G	C	18	41995889	y	y	splicing	PIK3C3(NM_002647:exon8:c.787-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.787-1G>C;ENST00000398870:exon7:c.598-1G>C)	.	.	0.999978115769202	0.882
18	39575853	G	T	18	41995889	y	y	splicing	PIK3C3(NM_002647:exon8:c.787-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.787-1G>T;ENST00000398870:exon7:c.598-1G>T)	.	.	0.999978115769202	0.882
18	39575854	G	A	18	41995890	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.G787A:p.E263K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.G787A:p.E263K;ENSG00000078142:ENST00000398870:exon7:c.G598A:p.E200K;	0.999405377469073	0.926
18	39575854	G	C	18	41995890	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.G787C:p.E263Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.G787C:p.E263Q;ENSG00000078142:ENST00000398870:exon7:c.G598C:p.E200Q;	0.999717595723792	0.9
18	39575854	G	T	18	41995890	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon8:c.G787T:p.E263X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon8:c.G787T:p.E263X;ENSG00000078142:ENST00000398870:exon7:c.G598T:p.E200X;	0.999883598638029	0.868
18	39575855	A	C	18	41995891	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A788C:p.E263A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A788C:p.E263A;ENSG00000078142:ENST00000398870:exon7:c.A599C:p.E200A;	0.745922040367503	0.782
18	39575855	A	G	18	41995891	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A788G:p.E263G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A788G:p.E263G;ENSG00000078142:ENST00000398870:exon7:c.A599G:p.E200G;	0.770947110904938	0.702
18	39575855	A	T	18	41995891	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A788T:p.E263V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A788T:p.E263V;ENSG00000078142:ENST00000398870:exon7:c.A599T:p.E200V;	0.696004855425988	0.726
18	39575956	A	C	18	41995992	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A889C:p.N297H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A889C:p.N297H;ENSG00000078142:ENST00000398870:exon7:c.A700C:p.N234H;	0.152490968376071	0.394
18	39575956	A	G	18	41995992	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A889G:p.N297D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A889G:p.N297D;ENSG00000078142:ENST00000398870:exon7:c.A700G:p.N234D;	0.530593924229796	0.346
18	39575956	A	T	18	41995992	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A889T:p.N297Y;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A889T:p.N297Y;ENSG00000078142:ENST00000398870:exon7:c.A700T:p.N234Y;	0.996872498555209	0.756
18	39575957	A	C	18	41995993	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A890C:p.N297T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A890C:p.N297T;ENSG00000078142:ENST00000398870:exon7:c.A701C:p.N234T;	0.999599451455707	0.982
18	39575957	A	G	18	41995993	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A890G:p.N297S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A890G:p.N297S;ENSG00000078142:ENST00000398870:exon7:c.A701G:p.N234S;	0.999777102963312	0.978
18	39575957	A	T	18	41995993	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.A890T:p.N297I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.A890T:p.N297I;ENSG00000078142:ENST00000398870:exon7:c.A701T:p.N234I;	0.999740102600184	0.958
18	39575958	T	A	18	41995994	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.T891A:p.N297K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.T891A:p.N297K;ENSG00000078142:ENST00000398870:exon7:c.T702A:p.N234K;	0.607267887352766	0.528
18	39575958	T	C	18	41995994	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon8:c.T891C:p.N297N;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.T891C:p.N297N;ENSG00000078142:ENST00000398870:exon7:c.T702C:p.N234N;	0.0939237332567208	0.464
18	39575958	T	G	18	41995994	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon8:c.T891G:p.N297K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon8:c.T891G:p.N297K;ENSG00000078142:ENST00000398870:exon7:c.T702G:p.N234K;	0.109575986129865	0.162
18	39575959	G	A	18	41995995	y	y	splicing	PIK3C3(NM_002647:exon8:c.891+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.891+1G>A;ENST00000398870:exon7:c.702+1G>A)	.	.	0.999986675681007	0.944
18	39575959	G	C	18	41995995	y	y	splicing	PIK3C3(NM_002647:exon8:c.891+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.891+1G>C;ENST00000398870:exon7:c.702+1G>C)	.	.	0.999986675681007	0.944
18	39575959	G	T	18	41995995	y	y	splicing	PIK3C3(NM_002647:exon8:c.891+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.891+1G>T;ENST00000398870:exon7:c.702+1G>T)	.	.	0.999986675681007	0.944
18	39575960	T	A	18	41995996	y	y	splicing	PIK3C3(NM_002647:exon8:c.891+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.891+2T>A;ENST00000398870:exon7:c.702+2T>A)	.	.	0.999988247793601	0.94
18	39575960	T	C	18	41995996	y	y	splicing	PIK3C3(NM_002647:exon8:c.891+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.891+2T>C;ENST00000398870:exon7:c.702+2T>C)	.	.	0.992054276455321	0.662
18	39575960	T	G	18	41995996	y	y	splicing	PIK3C3(NM_002647:exon8:c.891+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon8:c.891+2T>G;ENST00000398870:exon7:c.702+2T>G)	.	.	0.999988247793601	0.94
18	39575961	A	C	18	41995997	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999517562592575	0.844
18	39575961	A	G	18	41995997	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.978484547293318	0.64
18	39575961	A	T	18	41995997	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999618411151545	0.96
18	39575962	A	C	18	41995998	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.957253803478396	0.666
18	39575962	A	G	18	41995998	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998124240264262	0.766
18	39575962	A	T	18	41995998	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.985615281349345	0.862
18	39575963	G	A	18	41995999	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999973681133996	0.996
18	39575963	G	C	18	41995999	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999731014901433	0.944
18	39575963	G	T	18	41995999	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99996596223829	0.952
18	39575964	A	C	18	41996000	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.93278342150721E-4	0.046
18	39575964	A	G	18	41996000	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.49850369171354E-5	0.002
18	39575964	A	T	18	41996000	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.53577107123461E-5	0.062
18	39575965	G	A	18	41996001	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.22456610014711E-6	0.0
18	39575965	G	C	18	41996001	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.35140428140761E-6	0.0
18	39575965	G	T	18	41996001	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.83022842110704E-4	0.022
18	39575966	A	C	18	41996002	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.34365835671893E-5	0.004
18	39575966	A	G	18	41996002	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.09118567282239E-5	0.004
18	39575966	A	T	18	41996002	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.07547889452121E-5	0.0
18	39576590	T	A	18	41996626	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.20965715945221E-4	0.166
18	39576590	T	C	18	41996626	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.19422088581799E-4	0.074
18	39576590	T	G	18	41996626	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.43343944988091E-4	0.186
18	39576591	T	A	18	41996627	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.49656871476911E-5	0.048
18	39576591	T	C	18	41996627	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.14715528276767E-5	0.0
18	39576591	T	G	18	41996627	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.61755685774975E-5	0.04
18	39576592	T	A	18	41996628	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.16200058982006E-5	0.052
18	39576592	T	C	18	41996628	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.30220623573941E-5	0.006
18	39576592	T	G	18	41996628	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.32346327296088E-5	0.098
18	39576593	T	A	18	41996629	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.75830906263213E-5	0.062
18	39576593	T	C	18	41996629	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.0069983756299E-5	0.002
18	39576593	T	G	18	41996629	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.75830906263213E-5	0.096
18	39576594	T	A	18	41996630	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.952989884886596	0.948
18	39576594	T	C	18	41996630	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.48616639175997E-5	0.0
18	39576594	T	G	18	41996630	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.60490615717267E-5	0.016
18	39576595	G	A	18	41996631	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.05247236118761E-5	0.006
18	39576595	G	C	18	41996631	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.40173270250616E-6	0.0
18	39576595	G	T	18	41996631	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.40173270250616E-6	0.0
18	39576596	T	A	18	41996632	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.96282200417928E-4	0.09
18	39576596	T	C	18	41996632	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.59210365547082E-4	0.032
18	39576596	T	G	18	41996632	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00110456955069924	0.118
18	39576597	T	A	18	41996633	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00120455405922727	0.294
18	39576597	T	C	18	41996633	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00152006489238427	0.104
18	39576597	T	G	18	41996633	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00155233931899506	0.294
18	39576598	T	A	18	41996634	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.20342951752212E-5	0.006
18	39576598	T	C	18	41996634	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.38307464049211E-5	0.004
18	39576598	T	G	18	41996634	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.33230179974311E-5	0.012
18	39576599	T	A	18	41996635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00125490353360024	0.136
18	39576599	T	C	18	41996635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00153785911521816	0.062
18	39576599	T	G	18	41996635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.903512160439995	0.574
18	39576600	A	C	18	41996636	y	y	splicing	PIK3C3(NM_002647:exon9:c.892-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.892-2A>C;ENST00000398870:exon8:c.703-2A>C)	.	.	0.999993519952936	0.928
18	39576600	A	G	18	41996636	y	y	splicing	PIK3C3(NM_002647:exon9:c.892-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.892-2A>G;ENST00000398870:exon8:c.703-2A>G)	.	.	0.999990977058869	0.926
18	39576600	A	T	18	41996636	y	y	splicing	PIK3C3(NM_002647:exon9:c.892-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.892-2A>T;ENST00000398870:exon8:c.703-2A>T)	.	.	0.999993519952936	0.926
18	39576601	G	A	18	41996637	y	y	splicing	PIK3C3(NM_002647:exon9:c.892-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.892-1G>A;ENST00000398870:exon8:c.703-1G>A)	.	.	0.999988247793601	0.934
18	39576601	G	C	18	41996637	y	y	splicing	PIK3C3(NM_002647:exon9:c.892-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.892-1G>C;ENST00000398870:exon8:c.703-1G>C)	.	.	0.999988247793601	0.934
18	39576601	G	T	18	41996637	y	y	splicing	PIK3C3(NM_002647:exon9:c.892-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.892-1G>T;ENST00000398870:exon8:c.703-1G>T)	.	.	0.999988247793601	0.934
18	39576602	A	C	18	41996638	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A892C:p.I298L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A892C:p.I298L;ENSG00000078142:ENST00000398870:exon8:c.A703C:p.I235L;	0.023401534791937	0.25
18	39576602	A	G	18	41996638	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A892G:p.I298V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A892G:p.I298V;ENSG00000078142:ENST00000398870:exon8:c.A703G:p.I235V;	0.00337647845413031	0.04
18	39576602	A	T	18	41996638	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A892T:p.I298F;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A892T:p.I298F;ENSG00000078142:ENST00000398870:exon8:c.A703T:p.I235F;	0.165152538912354	0.446
18	39576603	T	A	18	41996639	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.T893A:p.I298N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.T893A:p.I298N;ENSG00000078142:ENST00000398870:exon8:c.T704A:p.I235N;	0.00661940394052073	0.046
18	39576603	T	C	18	41996639	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.T893C:p.I298T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.T893C:p.I298T;ENSG00000078142:ENST00000398870:exon8:c.T704C:p.I235T;	0.00559851977711714	0.062
18	39576603	T	G	18	41996639	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.T893G:p.I298S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.T893G:p.I298S;ENSG00000078142:ENST00000398870:exon8:c.T704G:p.I235S;	0.0016381163974992	0.032
18	39576692	A	C	18	41996728	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A982C:p.K328Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A982C:p.K328Q;ENSG00000078142:ENST00000398870:exon8:c.A793C:p.K265Q;	0.0335051513411715	0.232
18	39576692	A	G	18	41996728	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A982G:p.K328E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A982G:p.K328E;ENSG00000078142:ENST00000398870:exon8:c.A793G:p.K265E;	0.133006635505537	0.348
18	39576692	A	T	18	41996728	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon9:c.A982T:p.K328X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon9:c.A982T:p.K328X;ENSG00000078142:ENST00000398870:exon8:c.A793T:p.K265X;	0.955055746721958	0.678
18	39576693	A	C	18	41996729	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A983C:p.K328T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A983C:p.K328T;ENSG00000078142:ENST00000398870:exon8:c.A794C:p.K265T;	0.328066096188023	0.55
18	39576693	A	G	18	41996729	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A983G:p.K328R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A983G:p.K328R;ENSG00000078142:ENST00000398870:exon8:c.A794G:p.K265R;	0.142425832150958	0.364
18	39576693	A	T	18	41996729	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A983T:p.K328I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A983T:p.K328I;ENSG00000078142:ENST00000398870:exon8:c.A794T:p.K265I;	0.90520638995542	0.596
18	39576694	A	C	18	41996730	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A984C:p.K328N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A984C:p.K328N;ENSG00000078142:ENST00000398870:exon8:c.A795C:p.K265N;	5.77540727019852E-5	0.158
18	39576694	A	G	18	41996730	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon9:c.A984G:p.K328K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A984G:p.K328K;ENSG00000078142:ENST00000398870:exon8:c.A795G:p.K265K;	3.34676266142199E-4	0.096
18	39576694	A	T	18	41996730	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon9:c.A984T:p.K328N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon9:c.A984T:p.K328N;ENSG00000078142:ENST00000398870:exon8:c.A795T:p.K265N;	2.38327682033755E-4	0.13
18	39576695	G	A	18	41996731	y	y	splicing	PIK3C3(NM_002647:exon9:c.984+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.984+1G>A;ENST00000398870:exon8:c.795+1G>A)	.	.	0.999988247793601	0.934
18	39576695	G	C	18	41996731	y	y	splicing	PIK3C3(NM_002647:exon9:c.984+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.984+1G>C;ENST00000398870:exon8:c.795+1G>C)	.	.	0.999988247793601	0.934
18	39576695	G	T	18	41996731	y	y	splicing	PIK3C3(NM_002647:exon9:c.984+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.984+1G>T;ENST00000398870:exon8:c.795+1G>T)	.	.	0.999988247793601	0.934
18	39576696	T	A	18	41996732	y	y	splicing	PIK3C3(NM_002647:exon9:c.984+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.984+2T>A;ENST00000398870:exon8:c.795+2T>A)	.	.	0.999993519952936	0.928
18	39576696	T	C	18	41996732	y	y	splicing	PIK3C3(NM_002647:exon9:c.984+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.984+2T>C;ENST00000398870:exon8:c.795+2T>C)	.	.	0.999958563240378	0.862
18	39576696	T	G	18	41996732	y	y	splicing	PIK3C3(NM_002647:exon9:c.984+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon9:c.984+2T>G;ENST00000398870:exon8:c.795+2T>G)	.	.	0.999993519952936	0.928
18	39576697	G	A	18	41996733	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.05303122060139E-5	0.0
18	39576697	G	C	18	41996733	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.975666866026763	0.506
18	39576697	G	T	18	41996733	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.604943806739108	0.45
18	39576698	A	C	18	41996734	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.992607281293492	0.744
18	39576698	A	G	18	41996734	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.991238396187609	0.746
18	39576698	A	T	18	41996734	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997586653741861	0.79
18	39576699	G	A	18	41996735	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999977863878822	0.982
18	39576699	G	C	18	41996735	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999958136508879	0.95
18	39576699	G	T	18	41996735	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999983626107213	0.968
18	39576700	T	A	18	41996736	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.804260546609186	0.658
18	39576700	T	C	18	41996736	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.511601113665028	0.488
18	39576700	T	G	18	41996736	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.880323394268646	0.634
18	39576701	G	A	18	41996737	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.42127165531937E-4	0.006
18	39576701	G	C	18	41996737	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.44079960581466E-4	0.024
18	39576701	G	T	18	41996737	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.64933678655286E-4	0.0
18	39576702	T	A	18	41996738	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00209291847178935	0.006
18	39576702	T	C	18	41996738	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.32180094102215E-4	0.006
18	39576702	T	G	18	41996738	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00218865379211202	0.012
18	39584308	T	A	18	42004344	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0871668165509363	0.546
18	39584308	T	C	18	42004344	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00211369045326727	0.042
18	39584308	T	G	18	42004344	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.131464927555731	0.502
18	39584309	T	A	18	42004345	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.921566566915883	0.802
18	39584309	T	C	18	42004345	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00692660610211562	0.092
18	39584309	T	G	18	42004345	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.75727607131539	0.694
18	39584310	C	A	18	42004346	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0105688418513076	0.074
18	39584310	C	G	18	42004346	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0103335759250931	0.14
18	39584310	C	T	18	42004346	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.19463701836112E-4	0.006
18	39584311	T	A	18	42004347	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999966889117966	0.958
18	39584311	T	C	18	42004347	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.12154695465979E-4	0.116
18	39584311	T	G	18	42004347	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.034383774690695	0.414
18	39584312	G	A	18	42004348	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.22383433970183E-5	0.006
18	39584312	G	C	18	42004348	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.7103679731909E-5	0.004
18	39584312	G	T	18	42004348	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.03150620259812E-4	0.0
18	39584313	A	C	18	42004349	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.4148836730574E-5	0.006
18	39584313	A	G	18	42004349	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.85511285187365E-5	0.01
18	39584313	A	T	18	42004349	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.07347595564748E-5	0.002
18	39584314	T	A	18	42004350	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00786831276470932	0.292
18	39584314	T	C	18	42004350	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.12699634410949E-4	0.05
18	39584314	T	G	18	42004350	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999903294509074	0.976
18	39584315	T	A	18	42004351	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.962713501311621	0.596
18	39584315	T	C	18	42004351	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00425436148359066	0.022
18	39584315	T	G	18	42004351	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.974226335451893	0.57
18	39584316	T	A	18	42004352	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.9126498977907E-4	0.026
18	39584316	T	C	18	42004352	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.78313436702541E-4	0.048
18	39584316	T	G	18	42004352	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00239088650573107	0.028
18	39584317	T	A	18	42004353	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.178365920245623	0.338
18	39584317	T	C	18	42004353	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.03574935827163E-4	0.014
18	39584317	T	G	18	42004353	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.995051615040602	0.686
18	39584318	A	C	18	42004354	y	y	splicing	PIK3C3(NM_002647:exon10:c.985-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.985-2A>C;ENST00000398870:exon9:c.796-2A>C)	.	.	0.999988247793601	0.928
18	39584318	A	G	18	42004354	y	y	splicing	PIK3C3(NM_002647:exon10:c.985-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.985-2A>G;ENST00000398870:exon9:c.796-2A>G)	.	.	0.999988247793601	0.928
18	39584318	A	T	18	42004354	y	y	splicing	PIK3C3(NM_002647:exon10:c.985-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.985-2A>T;ENST00000398870:exon9:c.796-2A>T)	.	.	0.999988247793601	0.928
18	39584319	G	A	18	42004355	y	y	splicing	PIK3C3(NM_002647:exon10:c.985-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.985-1G>A;ENST00000398870:exon9:c.796-1G>A)	.	.	0.999985532734767	0.936
18	39584319	G	C	18	42004355	y	y	splicing	PIK3C3(NM_002647:exon10:c.985-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.985-1G>C;ENST00000398870:exon9:c.796-1G>C)	.	.	0.999985532734767	0.936
18	39584319	G	T	18	42004355	y	y	splicing	PIK3C3(NM_002647:exon10:c.985-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.985-1G>T;ENST00000398870:exon9:c.796-1G>T)	.	.	0.999985532734767	0.936
18	39584320	G	A	18	42004356	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.G985A:p.A329T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.G985A:p.A329T;ENSG00000078142:ENST00000398870:exon9:c.G796A:p.A266T;	0.999656919220881	0.886
18	39584320	G	C	18	42004356	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.G985C:p.A329P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.G985C:p.A329P;ENSG00000078142:ENST00000398870:exon9:c.G796C:p.A266P;	0.999769701922942	0.992
18	39584320	G	T	18	42004356	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.G985T:p.A329S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.G985T:p.A329S;ENSG00000078142:ENST00000398870:exon9:c.G796T:p.A266S;	0.999880523651534	0.992
18	39584321	C	A	18	42004357	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.C986A:p.A329D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.C986A:p.A329D;ENSG00000078142:ENST00000398870:exon9:c.C797A:p.A266D;	0.981094686326135	0.858
18	39584321	C	G	18	42004357	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.C986G:p.A329G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.C986G:p.A329G;ENSG00000078142:ENST00000398870:exon9:c.C797G:p.A266G;	0.971960215148267	0.78
18	39584321	C	T	18	42004357	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.C986T:p.A329V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.C986T:p.A329V;ENSG00000078142:ENST00000398870:exon9:c.C797T:p.A266V;	0.973402596200286	0.806
18	39584503	G	A	18	42004539	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.G1168A:p.E390K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.G1168A:p.E390K;ENSG00000078142:ENST00000398870:exon9:c.G979A:p.E327K;	0.935082454223337	0.784
18	39584503	G	C	18	42004539	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.G1168C:p.E390Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.G1168C:p.E390Q;ENSG00000078142:ENST00000398870:exon9:c.G979C:p.E327Q;	0.935082454223337	0.726
18	39584503	G	T	18	42004539	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon10:c.G1168T:p.E390X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon10:c.G1168T:p.E390X;ENSG00000078142:ENST00000398870:exon9:c.G979T:p.E327X;	0.961700132603308	0.754
18	39584504	A	C	18	42004540	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.A1169C:p.E390A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.A1169C:p.E390A;ENSG00000078142:ENST00000398870:exon9:c.A980C:p.E327A;	0.999901450823788	0.994
18	39584504	A	G	18	42004540	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.A1169G:p.E390G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.A1169G:p.E390G;ENSG00000078142:ENST00000398870:exon9:c.A980G:p.E327G;	0.999964682594616	0.99
18	39584504	A	T	18	42004540	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.A1169T:p.E390V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.A1169T:p.E390V;ENSG00000078142:ENST00000398870:exon9:c.A980T:p.E327V;	0.999948884790964	0.992
18	39584505	G	A	18	42004541	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon10:c.G1170A:p.E390E;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.G1170A:p.E390E;ENSG00000078142:ENST00000398870:exon9:c.G981A:p.E327E;	0.999976011483249	1.0
18	39584505	G	C	18	42004541	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.G1170C:p.E390D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.G1170C:p.E390D;ENSG00000078142:ENST00000398870:exon9:c.G981C:p.E327D;	0.999996705433194	1.0
18	39584505	G	T	18	42004541	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon10:c.G1170T:p.E390D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon10:c.G1170T:p.E390D;ENSG00000078142:ENST00000398870:exon9:c.G981T:p.E327D;	0.999990912551367	1.0
18	39584506	G	A	18	42004542	y	y	splicing	PIK3C3(NM_002647:exon10:c.1170+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.1170+1G>A;ENST00000398870:exon9:c.981+1G>A)	.	.	0.999983677848485	0.942
18	39584506	G	C	18	42004542	y	y	splicing	PIK3C3(NM_002647:exon10:c.1170+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.1170+1G>C;ENST00000398870:exon9:c.981+1G>C)	.	.	0.999983677848485	0.942
18	39584506	G	T	18	42004542	y	y	splicing	PIK3C3(NM_002647:exon10:c.1170+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.1170+1G>T;ENST00000398870:exon9:c.981+1G>T)	.	.	0.999983677848485	0.942
18	39584507	T	A	18	42004543	y	y	splicing	PIK3C3(NM_002647:exon10:c.1170+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.1170+2T>A;ENST00000398870:exon9:c.981+2T>A)	.	.	0.999984890425641	0.932
18	39584507	T	C	18	42004543	y	y	splicing	PIK3C3(NM_002647:exon10:c.1170+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.1170+2T>C;ENST00000398870:exon9:c.981+2T>C)	.	.	0.999935684347702	0.894
18	39584507	T	G	18	42004543	y	y	splicing	PIK3C3(NM_002647:exon10:c.1170+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon10:c.1170+2T>G;ENST00000398870:exon9:c.981+2T>G)	.	.	0.999984890425641	0.932
18	39584508	G	A	18	42004544	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.50599914149769E-5	0.058
18	39584508	G	C	18	42004544	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.699233297988926	0.55
18	39584508	G	T	18	42004544	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0751070469139574	0.5
18	39584509	C	A	18	42004545	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.54930045683967E-5	0.134
18	39584509	C	G	18	42004545	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.64916804214904E-4	0.2
18	39584509	C	T	18	42004545	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0081925778771611	0.186
18	39584510	A	C	18	42004546	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00151415389819612	0.24
18	39584510	A	G	18	42004546	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.37905970952978E-5	0.074
18	39584510	A	T	18	42004546	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.13758444731974E-4	0.046
18	39584511	T	A	18	42004547	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.950710815882473	0.616
18	39584511	T	C	18	42004547	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0364171698292821	0.43
18	39584511	T	G	18	42004547	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.01231462546546	0.408
18	39584512	T	A	18	42004548	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.29036663979917E-5	0.004
18	39584512	T	C	18	42004548	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.77759124753934E-5	0.004
18	39584512	T	G	18	42004548	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.12062137100433E-5	0.012
18	39584513	A	C	18	42004549	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.78313952424988E-5	0.006
18	39584513	A	G	18	42004549	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.79564429335437E-5	0.022
18	39584513	A	T	18	42004549	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.29893657624892E-5	0.0
18	39593394	T	A	18	42013430	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.11892168840702E-4	0.208
18	39593394	T	C	18	42013430	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.26802662274242E-4	0.012
18	39593394	T	G	18	42013430	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.62807408151431E-4	0.172
18	39593395	T	A	18	42013431	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00257719162481607	0.298
18	39593395	T	C	18	42013431	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.82164662030697E-4	0.034
18	39593395	T	G	18	42013431	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00213260707831285	0.278
18	39593396	T	A	18	42013432	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999440199964087	0.934
18	39593396	T	C	18	42013432	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.42444225710434E-4	0.028
18	39593396	T	G	18	42013432	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00365476504041399	0.238
18	39593397	G	A	18	42013433	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.65419355076884E-5	0.0
18	39593397	G	C	18	42013433	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.26948013707808E-6	0.0
18	39593397	G	T	18	42013433	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.78620526754692E-6	0.01
18	39593398	T	A	18	42013434	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00108087699188319	0.12
18	39593398	T	C	18	42013434	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.49310432558858E-4	0.026
18	39593398	T	G	18	42013434	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0010189113082032	0.108
18	39593399	T	A	18	42013435	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.50540456371115E-5	0.002
18	39593399	T	C	18	42013435	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.88318658480447E-5	0.014
18	39593399	T	G	18	42013435	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.32192900855214E-5	0.008
18	39593400	T	A	18	42013436	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00152576422944106	0.088
18	39593400	T	C	18	42013436	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.08050214826038E-5	0.006
18	39593400	T	G	18	42013436	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00103300027519221	0.088
18	39593401	T	A	18	42013437	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.75615556736578E-4	0.022
18	39593401	T	C	18	42013437	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.19092105543312E-5	0.002
18	39593401	T	G	18	42013437	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.26108029158973E-4	0.078
18	39593402	C	A	18	42013438	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.3450857593282E-5	0.034
18	39593402	C	G	18	42013438	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.09267525604811E-5	0.0
18	39593402	C	T	18	42013438	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.17872422128191E-5	0.0
18	39593403	C	A	18	42013439	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0491239071156485	0.432
18	39593403	C	G	18	42013439	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.463652219125948	0.654
18	39593403	C	T	18	42013439	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.66198237664866E-4	0.182
18	39593404	A	C	18	42013440	y	y	splicing	PIK3C3(NM_002647:exon11:c.1171-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1171-2A>C;ENST00000398870:exon10:c.982-2A>C)	.	.	0.99994568797423	0.932
18	39593404	A	G	18	42013440	y	y	splicing	PIK3C3(NM_002647:exon11:c.1171-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1171-2A>G;ENST00000398870:exon10:c.982-2A>G)	.	.	0.99994568797423	0.932
18	39593404	A	T	18	42013440	y	y	splicing	PIK3C3(NM_002647:exon11:c.1171-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1171-2A>T;ENST00000398870:exon10:c.982-2A>T)	.	.	0.99994568797423	0.928
18	39593405	G	A	18	42013441	y	y	splicing	PIK3C3(NM_002647:exon11:c.1171-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1171-1G>A;ENST00000398870:exon10:c.982-1G>A)	.	.	0.999990361384395	0.938
18	39593405	G	C	18	42013441	y	y	splicing	PIK3C3(NM_002647:exon11:c.1171-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1171-1G>C;ENST00000398870:exon10:c.982-1G>C)	.	.	0.999982737877662	0.938
18	39593405	G	T	18	42013441	y	y	splicing	PIK3C3(NM_002647:exon11:c.1171-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1171-1G>T;ENST00000398870:exon10:c.982-1G>T)	.	.	0.999990361384395	0.938
18	39593406	G	A	18	42013442	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.G1171A:p.D391N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.G1171A:p.D391N;ENSG00000078142:ENST00000398870:exon10:c.G982A:p.D328N;	0.998483031375417	0.784
18	39593406	G	C	18	42013442	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.G1171C:p.D391H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.G1171C:p.D391H;ENSG00000078142:ENST00000398870:exon10:c.G982C:p.D328H;	0.999509567842555	0.87
18	39593406	G	T	18	42013442	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.G1171T:p.D391Y;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.G1171T:p.D391Y;ENSG00000078142:ENST00000398870:exon10:c.G982T:p.D328Y;	0.999787778487718	0.904
18	39593407	A	C	18	42013443	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.A1172C:p.D391A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.A1172C:p.D391A;ENSG00000078142:ENST00000398870:exon10:c.A983C:p.D328A;	0.870335529004336	0.786
18	39593407	A	G	18	42013443	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.A1172G:p.D391G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.A1172G:p.D391G;ENSG00000078142:ENST00000398870:exon10:c.A983G:p.D328G;	0.854347457500023	0.474
18	39593407	A	T	18	42013443	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.A1172T:p.D391V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.A1172T:p.D391V;ENSG00000078142:ENST00000398870:exon10:c.A983T:p.D328V;	0.650968132859985	0.686
18	39593558	T	A	18	42013594	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.T1323A:p.D441E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.T1323A:p.D441E;ENSG00000078142:ENST00000398870:exon10:c.T1134A:p.D378E;	1.80454800303922E-4	0.0
18	39593558	T	C	18	42013594	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon11:c.T1323C:p.D441D;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.T1323C:p.D441D;ENSG00000078142:ENST00000398870:exon10:c.T1134C:p.D378D;	5.21528555031276E-4	0.036
18	39593558	T	G	18	42013594	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.T1323G:p.D441E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.T1323G:p.D441E;ENSG00000078142:ENST00000398870:exon10:c.T1134G:p.D378E;	4.83774023616813E-4	0.036
18	39593559	A	C	18	42013595	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.A1324C:p.S442R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.A1324C:p.S442R;ENSG00000078142:ENST00000398870:exon10:c.A1135C:p.S379R;	0.993994548130303	0.892
18	39593559	A	G	18	42013595	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.A1324G:p.S442G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.A1324G:p.S442G;ENSG00000078142:ENST00000398870:exon10:c.A1135G:p.S379G;	0.997887051146765	0.92
18	39593559	A	T	18	42013595	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.A1324T:p.S442C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.A1324T:p.S442C;ENSG00000078142:ENST00000398870:exon10:c.A1135T:p.S379C;	0.998851925384758	0.988
18	39593560	G	A	18	42013596	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.G1325A:p.S442N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.G1325A:p.S442N;ENSG00000078142:ENST00000398870:exon10:c.G1136A:p.S379N;	0.99996383686476	0.974
18	39593560	G	C	18	42013596	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.G1325C:p.S442T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.G1325C:p.S442T;ENSG00000078142:ENST00000398870:exon10:c.G1136C:p.S379T;	0.999989787262471	0.966
18	39593560	G	T	18	42013596	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon11:c.G1325T:p.S442I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon11:c.G1325T:p.S442I;ENSG00000078142:ENST00000398870:exon10:c.G1136T:p.S379I;	0.999944817994927	0.976
18	39593561	G	A	18	42013597	y	y	splicing	PIK3C3(NM_002647:exon11:c.1325+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1325+1G>A;ENST00000398870:exon10:c.1136+1G>A)	.	.	0.999985532734767	0.936
18	39593561	G	C	18	42013597	y	y	splicing	PIK3C3(NM_002647:exon11:c.1325+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1325+1G>C;ENST00000398870:exon10:c.1136+1G>C)	.	.	0.999985532734767	0.934
18	39593561	G	T	18	42013597	y	y	splicing	PIK3C3(NM_002647:exon11:c.1325+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1325+1G>T;ENST00000398870:exon10:c.1136+1G>T)	.	.	0.999985532734767	0.934
18	39593562	T	A	18	42013598	y	y	splicing	PIK3C3(NM_002647:exon11:c.1325+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1325+2T>A;ENST00000398870:exon10:c.1136+2T>A)	.	.	0.999988247793601	0.926
18	39593562	T	C	18	42013598	y	y	splicing	PIK3C3(NM_002647:exon11:c.1325+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1325+2T>C;ENST00000398870:exon10:c.1136+2T>C)	.	.	0.992577803696025	0.644
18	39593562	T	G	18	42013598	y	y	splicing	PIK3C3(NM_002647:exon11:c.1325+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon11:c.1325+2T>G;ENST00000398870:exon10:c.1136+2T>G)	.	.	0.999988247793601	0.926
18	39593563	A	C	18	42013599	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999910568394035	0.94
18	39593563	A	G	18	42013599	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997388602121737	0.89
18	39593563	A	T	18	42013599	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999928627374734	0.916
18	39593564	T	A	18	42013600	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.92599538770327E-5	0.004
18	39593564	T	C	18	42013600	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.65944478563992E-5	0.014
18	39593564	T	G	18	42013600	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.07686982757336E-4	0.014
18	39593565	G	A	18	42013601	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999914059556341	0.794
18	39593565	G	C	18	42013601	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999849066056502	0.7
18	39593565	G	T	18	42013601	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99974206999699	0.73
18	39593566	G	A	18	42013602	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.99485409804542E-4	0.008
18	39593566	G	C	18	42013602	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.01378120292847E-4	0.032
18	39593566	G	T	18	42013602	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.38519934318646E-4	0.0
18	39593567	A	C	18	42013603	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.85359293031157E-4	0.002
18	39593567	A	G	18	42013603	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.50277050195726E-4	0.02
18	39593567	A	T	18	42013603	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.71095528982967E-4	0.028
18	39593568	T	A	18	42013604	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.8022328119087E-5	0.0
18	39593568	T	C	18	42013604	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.48964211952651E-5	0.0
18	39593568	T	G	18	42013604	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.8022328119087E-5	0.0
18	39595428	T	A	18	42015464	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00306991618207813	0.25
18	39595428	T	C	18	42015464	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.09968520180028E-4	0.004
18	39595428	T	G	18	42015464	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99730664483807	0.94
18	39595429	T	A	18	42015465	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0530993052185887	0.322
18	39595429	T	C	18	42015465	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.77152986622413E-4	0.068
18	39595429	T	G	18	42015465	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0392775452552139	0.286
18	39595430	A	C	18	42015466	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.85551343804531E-5	0.0
18	39595430	A	G	18	42015466	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.30297025138908E-5	0.0
18	39595430	A	T	18	42015466	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.74799746955343E-5	0.016
18	39595431	C	A	18	42015467	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.77591431561413E-5	0.028
18	39595431	C	G	18	42015467	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.876979211359321	0.906
18	39595431	C	T	18	42015467	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.80248286061925E-5	0.0
18	39595432	T	A	18	42015468	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00428981830274714	0.204
18	39595432	T	C	18	42015468	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.3741057977465E-5	0.0
18	39595432	T	G	18	42015468	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.80680863258984E-4	0.144
18	39595433	T	A	18	42015469	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00152063926625883	0.032
18	39595433	T	C	18	42015469	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.44161660695998E-5	0.0
18	39595433	T	G	18	42015469	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00108660083937037	0.032
18	39595434	T	A	18	42015470	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.751914119929527	0.498
18	39595434	T	C	18	42015470	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00523595652311993	0.128
18	39595434	T	G	18	42015470	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.403040133106157	0.458
18	39595435	T	A	18	42015471	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.901172000137239	0.62
18	39595435	T	C	18	42015471	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0513447719820974	0.184
18	39595435	T	G	18	42015471	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.91584201407305	0.608
18	39595436	T	A	18	42015472	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.09108718044108E-4	0.006
18	39595436	T	C	18	42015472	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.93831908300165E-4	0.01
18	39595436	T	G	18	42015472	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.46858421379753E-5	0.004
18	39595437	C	A	18	42015473	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.932377554043688	0.534
18	39595437	C	G	18	42015473	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999741968168625	0.968
18	39595437	C	T	18	42015473	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.135258235335703	0.288
18	39595438	A	C	18	42015474	y	y	splicing	PIK3C3(NM_002647:exon12:c.1326-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1326-2A>C;ENST00000398870:exon11:c.1137-2A>C)	.	.	0.999988247793601	0.928
18	39595438	A	G	18	42015474	y	y	splicing	PIK3C3(NM_002647:exon12:c.1326-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1326-2A>G;ENST00000398870:exon11:c.1137-2A>G)	.	.	0.999988247793601	0.928
18	39595438	A	T	18	42015474	y	y	splicing	PIK3C3(NM_002647:exon12:c.1326-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1326-2A>T;ENST00000398870:exon11:c.1137-2A>T)	.	.	0.999988247793601	0.93
18	39595439	G	A	18	42015475	y	y	splicing	PIK3C3(NM_002647:exon12:c.1326-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1326-1G>A;ENST00000398870:exon11:c.1137-1G>A)	.	.	0.999990361384395	0.938
18	39595439	G	C	18	42015475	y	y	splicing	PIK3C3(NM_002647:exon12:c.1326-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1326-1G>C;ENST00000398870:exon11:c.1137-1G>C)	.	.	0.999990361384395	0.936
18	39595439	G	T	18	42015475	y	y	splicing	PIK3C3(NM_002647:exon12:c.1326-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1326-1G>T;ENST00000398870:exon11:c.1137-1G>T)	.	.	0.999990361384395	0.938
18	39595440	C	A	18	42015476	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.C1326A:p.S442R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.C1326A:p.S442R;ENSG00000078142:ENST00000398870:exon11:c.C1137A:p.S379R;	0.00513856996262426	0.044
18	39595440	C	G	18	42015476	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.C1326G:p.S442R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.C1326G:p.S442R;ENSG00000078142:ENST00000398870:exon11:c.C1137G:p.S379R;	0.0041551340011627	0.074
18	39595440	C	T	18	42015476	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon12:c.C1326T:p.S442S;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.C1326T:p.S442S;ENSG00000078142:ENST00000398870:exon11:c.C1137T:p.S379S;	0.0310870627653572	0.204
18	39595441	T	A	18	42015477	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.T1327A:p.S443T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.T1327A:p.S443T;ENSG00000078142:ENST00000398870:exon11:c.T1138A:p.S380T;	0.138731964889708	0.332
18	39595441	T	C	18	42015477	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.T1327C:p.S443P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.T1327C:p.S443P;ENSG00000078142:ENST00000398870:exon11:c.T1138C:p.S380P;	0.117627497248867	0.384
18	39595441	T	G	18	42015477	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.T1327G:p.S443A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.T1327G:p.S443A;ENSG00000078142:ENST00000398870:exon11:c.T1138G:p.S380A;	0.0101867497194649	0.13
18	39595528	G	A	18	42015564	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.G1414A:p.E472K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.G1414A:p.E472K;ENSG00000078142:ENST00000398870:exon11:c.G1225A:p.E409K;	0.00222494895005135	0.032
18	39595528	G	C	18	42015564	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.G1414C:p.E472Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.G1414C:p.E472Q;ENSG00000078142:ENST00000398870:exon11:c.G1225C:p.E409Q;	0.00343182215974092	0.03
18	39595528	G	T	18	42015564	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon12:c.G1414T:p.E472X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon12:c.G1414T:p.E472X;ENSG00000078142:ENST00000398870:exon11:c.G1225T:p.E409X;	0.989226611767668	0.888
18	39595529	A	C	18	42015565	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.A1415C:p.E472A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.A1415C:p.E472A;ENSG00000078142:ENST00000398870:exon11:c.A1226C:p.E409A;	0.697281369228282	0.566
18	39595529	A	G	18	42015565	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.A1415G:p.E472G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.A1415G:p.E472G;ENSG00000078142:ENST00000398870:exon11:c.A1226G:p.E409G;	0.995966295830392	0.894
18	39595529	A	T	18	42015565	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.A1415T:p.E472V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.A1415T:p.E472V;ENSG00000078142:ENST00000398870:exon11:c.A1226T:p.E409V;	0.999111028750751	1.0
18	39595530	A	C	18	42015566	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.A1416C:p.E472D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.A1416C:p.E472D;ENSG00000078142:ENST00000398870:exon11:c.A1227C:p.E409D;	6.8927420412514E-5	0.054
18	39595530	A	G	18	42015566	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon12:c.A1416G:p.E472E;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.A1416G:p.E472E;ENSG00000078142:ENST00000398870:exon11:c.A1227G:p.E409E;	2.10945885686923E-4	0.026
18	39595530	A	T	18	42015566	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon12:c.A1416T:p.E472D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon12:c.A1416T:p.E472D;ENSG00000078142:ENST00000398870:exon11:c.A1227T:p.E409D;	3.64333589082892E-4	0.03
18	39595531	G	A	18	42015567	y	y	splicing	PIK3C3(NM_002647:exon12:c.1416+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1416+1G>A;ENST00000398870:exon11:c.1227+1G>A)	.	.	0.999990361384395	0.938
18	39595531	G	C	18	42015567	y	y	splicing	PIK3C3(NM_002647:exon12:c.1416+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1416+1G>C;ENST00000398870:exon11:c.1227+1G>C)	.	.	0.999990361384395	0.936
18	39595531	G	T	18	42015567	y	y	splicing	PIK3C3(NM_002647:exon12:c.1416+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1416+1G>T;ENST00000398870:exon11:c.1227+1G>T)	.	.	0.999990361384395	0.938
18	39595532	T	A	18	42015568	y	y	splicing	PIK3C3(NM_002647:exon12:c.1416+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1416+2T>A;ENST00000398870:exon11:c.1227+2T>A)	.	.	0.999988247793601	0.93
18	39595532	T	C	18	42015568	y	y	splicing	PIK3C3(NM_002647:exon12:c.1416+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1416+2T>C;ENST00000398870:exon11:c.1227+2T>C)	.	.	0.999929727175276	0.862
18	39595532	T	G	18	42015568	y	y	splicing	PIK3C3(NM_002647:exon12:c.1416+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon12:c.1416+2T>G;ENST00000398870:exon11:c.1227+2T>G)	.	.	0.999988247793601	0.928
18	39595533	G	A	18	42015569	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.40858346307615E-5	0.0
18	39595533	G	C	18	42015569	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.98765648788538	0.56
18	39595533	G	T	18	42015569	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.678887231023183	0.406
18	39595534	A	C	18	42015570	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.969725761966241	0.706
18	39595534	A	G	18	42015570	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.989692282981186	0.856
18	39595534	A	T	18	42015570	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.996605308012487	0.89
18	39595535	G	A	18	42015571	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999955524437649	0.93
18	39595535	G	C	18	42015571	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999885721310712	0.96
18	39595535	G	T	18	42015571	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999955695301809	0.954
18	39595536	T	A	18	42015572	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.938145514287514	0.68
18	39595536	T	C	18	42015572	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.914831878146457	0.62
18	39595536	T	G	18	42015572	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.906052833647898	0.692
18	39595537	A	C	18	42015573	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.38999122542281E-5	0.0
18	39595537	A	G	18	42015573	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.62832907141066E-5	0.0
18	39595537	A	T	18	42015573	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.70911392861992E-4	0.02
18	39595538	C	A	18	42015574	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.53436776239302E-6	0.0
18	39595538	C	G	18	42015574	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.68787043663285E-5	0.0
18	39595538	C	T	18	42015574	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.2577860733238E-5	0.002
18	39600590	T	A	18	42020626	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999719882349722	0.88
18	39600590	T	C	18	42020626	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.370560680972428	0.322
18	39600590	T	G	18	42020626	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998404711741935	0.806
18	39600591	A	C	18	42020627	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.71588680441243E-5	0.004
18	39600591	A	G	18	42020627	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.86569244669344E-5	0.026
18	39600591	A	T	18	42020627	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.42302552338958E-4	0.23
18	39600592	A	C	18	42020628	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.62133598739426E-5	0.0
18	39600592	A	G	18	42020628	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.989665489673474	0.944
18	39600592	A	T	18	42020628	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.1173471145668E-5	0.0
18	39600593	T	A	18	42020629	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.100528610490936	0.344
18	39600593	T	C	18	42020629	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.25304732939827E-4	0.098
18	39600593	T	G	18	42020629	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999885452946869	0.962
18	39600594	T	A	18	42020630	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0739686184829809	0.442
18	39600594	T	C	18	42020630	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.5187342288516E-4	0.006
18	39600594	T	G	18	42020630	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0298537412241309	0.352
18	39600595	C	A	18	42020631	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00111581597565248	0.042
18	39600595	C	G	18	42020631	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00149313779968749	0.114
18	39600595	C	T	18	42020631	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.54499908852404E-5	0.008
18	39600596	T	A	18	42020632	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.990161624594898	0.81
18	39600596	T	C	18	42020632	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00284319561503206	0.072
18	39600596	T	G	18	42020632	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.983572816194957	0.816
18	39600597	T	A	18	42020633	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.971292399051411	0.762
18	39600597	T	C	18	42020633	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.256398905991227	0.252
18	39600597	T	G	18	42020633	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.996705638498199	0.746
18	39600598	T	A	18	42020634	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00150940293643943	0.008
18	39600598	T	C	18	42020634	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.50216915036747E-4	0.062
18	39600598	T	G	18	42020634	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.87303184774142E-4	0.022
18	39600599	C	A	18	42020635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.960270755503825	0.78
18	39600599	C	G	18	42020635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999890425050724	0.872
18	39600599	C	T	18	42020635	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.017318535854977	0.158
18	39600600	A	C	18	42020636	y	y	splicing	PIK3C3(NM_002647:exon13:c.1417-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1417-2A>C;ENST00000398870:exon12:c.1228-2A>C)	.	.	0.999990764389106	0.94
18	39600600	A	G	18	42020636	y	y	splicing	PIK3C3(NM_002647:exon13:c.1417-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1417-2A>G;ENST00000398870:exon12:c.1228-2A>G)	.	.	0.999990764389106	0.94
18	39600600	A	T	18	42020636	y	y	splicing	PIK3C3(NM_002647:exon13:c.1417-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1417-2A>T;ENST00000398870:exon12:c.1228-2A>T)	.	.	0.999990764389106	0.94
18	39600601	G	A	18	42020637	y	y	splicing	PIK3C3(NM_002647:exon13:c.1417-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1417-1G>A;ENST00000398870:exon12:c.1228-1G>A)	.	.	0.999988630721284	0.938
18	39600601	G	C	18	42020637	y	y	splicing	PIK3C3(NM_002647:exon13:c.1417-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1417-1G>C;ENST00000398870:exon12:c.1228-1G>C)	.	.	0.999988630721284	0.938
18	39600601	G	T	18	42020637	y	y	splicing	PIK3C3(NM_002647:exon13:c.1417-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1417-1G>T;ENST00000398870:exon12:c.1228-1G>T)	.	.	0.999988630721284	0.938
18	39600602	C	A	18	42020638	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.C1417A:p.Q473K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.C1417A:p.Q473K;ENSG00000078142:ENST00000398870:exon12:c.C1228A:p.Q410K;	0.00105724945083342	0.048
18	39600602	C	G	18	42020638	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.C1417G:p.Q473E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.C1417G:p.Q473E;ENSG00000078142:ENST00000398870:exon12:c.C1228G:p.Q410E;	0.00135108919723296	0.142
18	39600602	C	T	18	42020638	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon13:c.C1417T:p.Q473X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon13:c.C1417T:p.Q473X;ENSG00000078142:ENST00000398870:exon12:c.C1228T:p.Q410X;	0.996159514554814	0.952
18	39600603	A	C	18	42020639	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.A1418C:p.Q473P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.A1418C:p.Q473P;ENSG00000078142:ENST00000398870:exon12:c.A1229C:p.Q410P;	0.00333919879524842	0.088
18	39600603	A	G	18	42020639	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.A1418G:p.Q473R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.A1418G:p.Q473R;ENSG00000078142:ENST00000398870:exon12:c.A1229G:p.Q410R;	0.00546184142955477	0.03
18	39600603	A	T	18	42020639	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.A1418T:p.Q473L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.A1418T:p.Q473L;ENSG00000078142:ENST00000398870:exon12:c.A1229T:p.Q410L;	0.00128246180067558	0.038
18	39600667	C	A	18	42020703	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon13:c.C1482A:p.Y494X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon13:c.C1482A:p.Y494X;ENSG00000078142:ENST00000398870:exon12:c.C1293A:p.Y431X;	0.183442213932005	0.578
18	39600667	C	G	18	42020703	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon13:c.C1482G:p.Y494X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon13:c.C1482G:p.Y494X;ENSG00000078142:ENST00000398870:exon12:c.C1293G:p.Y431X;	0.277081554958406	0.464
18	39600667	C	T	18	42020703	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon13:c.C1482T:p.Y494Y;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.C1482T:p.Y494Y;ENSG00000078142:ENST00000398870:exon12:c.C1293T:p.Y431Y;	0.350848057347116	0.42
18	39600668	T	A	18	42020704	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.T1483A:p.W495R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.T1483A:p.W495R;ENSG00000078142:ENST00000398870:exon12:c.T1294A:p.W432R;	0.65042255337121	0.666
18	39600668	T	C	18	42020704	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.T1483C:p.W495R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.T1483C:p.W495R;ENSG00000078142:ENST00000398870:exon12:c.T1294C:p.W432R;	0.92717113583909	0.916
18	39600668	T	G	18	42020704	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.T1483G:p.W495G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.T1483G:p.W495G;ENSG00000078142:ENST00000398870:exon12:c.T1294G:p.W432G;	0.957027816739311	0.916
18	39600669	G	A	18	42020705	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon13:c.G1484A:p.W495X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon13:c.G1484A:p.W495X;ENSG00000078142:ENST00000398870:exon12:c.G1295A:p.W432X;	0.999987038065611	0.986
18	39600669	G	C	18	42020705	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.G1484C:p.W495S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.G1484C:p.W495S;ENSG00000078142:ENST00000398870:exon12:c.G1295C:p.W432S;	0.999996119052414	0.992
18	39600669	G	T	18	42020705	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon13:c.G1484T:p.W495L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon13:c.G1484T:p.W495L;ENSG00000078142:ENST00000398870:exon12:c.G1295T:p.W432L;	0.999985418789761	1.0
18	39600670	G	A	18	42020706	y	y	splicing	PIK3C3(NM_002647:exon13:c.1484+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1484+1G>A;ENST00000398870:exon12:c.1295+1G>A)	.	.	0.999985532734767	0.936
18	39600670	G	C	18	42020706	y	y	splicing	PIK3C3(NM_002647:exon13:c.1484+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1484+1G>C;ENST00000398870:exon12:c.1295+1G>C)	.	.	0.999985532734767	0.936
18	39600670	G	T	18	42020706	y	y	splicing	PIK3C3(NM_002647:exon13:c.1484+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1484+1G>T;ENST00000398870:exon12:c.1295+1G>T)	.	.	0.999985532734767	0.936
18	39600671	T	A	18	42020707	y	y	splicing	PIK3C3(NM_002647:exon13:c.1484+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1484+2T>A;ENST00000398870:exon12:c.1295+2T>A)	.	.	0.999988247793601	0.928
18	39600671	T	C	18	42020707	y	y	splicing	PIK3C3(NM_002647:exon13:c.1484+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1484+2T>C;ENST00000398870:exon12:c.1295+2T>C)	.	.	0.99340600729494	0.674
18	39600671	T	G	18	42020707	y	y	splicing	PIK3C3(NM_002647:exon13:c.1484+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon13:c.1484+2T>G;ENST00000398870:exon12:c.1295+2T>G)	.	.	0.999988247793601	0.928
18	39600672	A	C	18	42020708	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999567238538085	0.936
18	39600672	A	G	18	42020708	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.993524540178105	0.85
18	39600672	A	T	18	42020708	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998666082923079	0.926
18	39600673	T	A	18	42020709	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.40431312932525E-4	0.086
18	39600673	T	C	18	42020709	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.03377824963033E-4	0.044
18	39600673	T	G	18	42020709	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.58101660999928E-4	0.018
18	39600674	G	A	18	42020710	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99956069146096	1.0
18	39600674	G	C	18	42020710	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999957713671657	0.966
18	39600674	G	T	18	42020710	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999863833019689	0.988
18	39600675	T	A	18	42020711	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.990884854604419	0.708
18	39600675	T	C	18	42020711	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.932587963928129	0.666
18	39600675	T	G	18	42020711	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.97287502389591	0.672
18	39600676	A	C	18	42020712	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.51172710891269E-4	0.01
18	39600676	A	G	18	42020712	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.1987094984156E-4	0.006
18	39600676	A	T	18	42020712	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00143683969470475	0.03
18	39600677	A	C	18	42020713	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.82742017731173E-4	0.008
18	39600677	A	G	18	42020713	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.46662914433322E-4	0.024
18	39600677	A	T	18	42020713	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.07090884388583E-4	0.022
18	39605901	C	A	18	42025937	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.93077188564133E-5	0.002
18	39605901	C	G	18	42025937	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.84864190955455E-4	0.0
18	39605901	C	T	18	42025937	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.29522133632454E-4	0.006
18	39605902	A	C	18	42025938	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.33190275480203E-4	0.006
18	39605902	A	G	18	42025938	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.73186234223837E-5	0.002
18	39605902	A	T	18	42025938	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.49229997755661E-4	0.012
18	39605903	G	A	18	42025939	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.33698758487849E-4	0.036
18	39605903	G	C	18	42025939	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.02688114287168E-4	0.072
18	39605903	G	T	18	42025939	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.33698758487849E-4	0.014
18	39605904	G	A	18	42025940	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	4.21649339220785E-5	0.0
18	39605904	G	C	18	42025940	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	3.82035599739421E-5	0.0
18	39605904	G	T	18	42025940	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	4.21649339220785E-5	0.0
18	39605905	T	A	18	42025941	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	2.67894152125472E-4	0.006
18	39605905	T	C	18	42025941	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	1.98561944552076E-4	0.016
18	39605905	T	G	18	42025941	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	1.98561944552076E-4	0.016
18	39605906	A	C	18	42025942	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.69788345236195E-4	0.016
18	39605906	A	G	18	42025942	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.69788345236195E-4	0.018
18	39605906	A	T	18	42025942	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.46945976596373E-4	0.034
18	39605907	A	C	18	42025943	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.45031001704681E-4	0.006
18	39605907	A	G	18	42025943	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.45031001704681E-4	0.006
18	39605907	A	T	18	42025943	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.32025213120175E-4	0.0
18	39605908	G	A	18	42025944	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.02020199066874E-4	0.008
18	39605908	G	C	18	42025944	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.06068751247464E-4	0.004
18	39605908	G	T	18	42025944	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.45612975067064E-4	0.002
18	39605909	C	A	18	42025945	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.15272379410342E-4	0.0
18	39605909	C	G	18	42025945	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.15272379410342E-4	0.0
18	39605909	C	T	18	42025945	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.34128699125326E-4	0.004
18	39605910	C	A	18	42025946	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.90446143668106E-5	0.01
18	39605910	C	G	18	42025946	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.90446143668106E-5	0.01
18	39605910	C	T	18	42025946	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.92342182898636E-5	0.01
18	39605911	C	A	18	42025947	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.30819145506541E-4	0.012
18	39605911	C	G	18	42025947	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.30819145506541E-4	0.002
18	39605911	C	T	18	42025947	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.19087666414529E-4	0.0
18	39607273	A	C	18	42027309	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.6075369479309E-4	0.022
18	39607273	A	G	18	42027309	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.6075369479309E-4	0.022
18	39607273	A	T	18	42027309	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.6075369479309E-4	0.022
18	39607274	A	C	18	42027310	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.44924181639046E-4	0.022
18	39607274	A	G	18	42027310	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.44924181639046E-4	0.022
18	39607274	A	T	18	42027310	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	7.54549637442944E-4	0.086
18	39607275	T	A	18	42027311	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.16080636402324E-4	0.0
18	39607275	T	C	18	42027311	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.19087666414529E-4	0.0
18	39607275	T	G	18	42027311	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.19087666414529E-4	0.0
18	39607276	G	A	18	42027312	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	1.5982790009972E-4	0.016
18	39607276	G	C	18	42027312	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	2.33698758487849E-4	0.072
18	39607276	G	T	18	42027312	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	1.5982790009972E-4	0.01
18	39607277	T	A	18	42027313	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	1.32022946453205E-4	0.002
18	39607277	T	C	18	42027313	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	9.60948310872745E-5	0.002
18	39607277	T	G	18	42027313	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	1.28455838759496E-4	0.002
18	39607278	G	A	18	42027314	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.55453923326756E-5	0.0
18	39607278	G	C	18	42027314	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.55453923326756E-5	0.0
18	39607278	G	T	18	42027314	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.55453923326756E-5	0.0
18	39607279	T	A	18	42027315	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.16142539197325E-4	0.004
18	39607279	T	C	18	42027315	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.16142539197325E-4	0.004
18	39607279	T	G	18	42027315	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.16142539197325E-4	0.004
18	39607280	T	A	18	42027316	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.15913973382954E-5	0.03
18	39607280	T	C	18	42027316	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.20497298200597E-4	0.056
18	39607280	T	G	18	42027316	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.20497298200597E-4	0.054
18	39607281	T	A	18	42027317	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.55453923326756E-5	0.002
18	39607281	T	C	18	42027317	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.55453923326756E-5	0.002
18	39607281	T	G	18	42027317	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.55453923326756E-5	0.002
18	39607282	T	A	18	42027318	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.64454637883965E-5	0.002
18	39607282	T	C	18	42027318	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.64454637883965E-5	0.002
18	39607282	T	G	18	42027318	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.64454637883965E-5	0.002
18	39607283	A	C	18	42027319	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.34097625724401E-4	0.062
18	39607283	A	G	18	42027319	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.34097625724401E-4	0.058
18	39607283	A	T	18	42027319	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.25216440690967E-5	0.034
18	39607319	A	C	18	42027355	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.02642503822698E-5	0.04
18	39607319	A	G	18	42027355	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.02642503822698E-5	0.04
18	39607319	A	T	18	42027355	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.02642503822698E-5	0.04
18	39607320	A	C	18	42027356	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.60947442822834E-5	0.0
18	39607320	A	G	18	42027356	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.60947442822834E-5	0.0
18	39607320	A	T	18	42027356	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.60947442822834E-5	0.0
18	39607321	T	A	18	42027357	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.90028566392549E-5	0.004
18	39607321	T	C	18	42027357	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.90028566392549E-5	0.002
18	39607321	T	G	18	42027357	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.90028566392549E-5	0.002
18	39607322	C	A	18	42027358	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.29444940048665E-5	0.012
18	39607322	C	G	18	42027358	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.99056141236358E-5	0.002
18	39607322	C	T	18	42027358	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.29444940048665E-5	0.008
18	39607323	T	A	18	42027359	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.27477746119029E-5	0.0
18	39607323	T	C	18	42027359	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.33815804894828E-5	0.0
18	39607323	T	G	18	42027359	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.33815804894828E-5	0.0
18	39607324	G	A	18	42027360	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.46745379842576E-5	0.0
18	39607324	G	C	18	42027360	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.46745379842576E-5	0.002
18	39607324	G	T	18	42027360	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.46745379842576E-5	0.002
18	39607325	T	A	18	42027361	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.09404615887614E-4	0.008
18	39607325	T	C	18	42027361	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.68256441675417E-5	0.0
18	39607325	T	G	18	42027361	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.68256441675417E-5	0.0
18	39607326	T	A	18	42027362	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.53477837838108E-4	0.004
18	39607326	T	C	18	42027362	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.29052254582776E-4	0.002
18	39607326	T	G	18	42027362	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.29052254582776E-4	0.002
18	39607327	T	A	18	42027363	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	7.70373002829532E-4	0.006
18	39607327	T	C	18	42027363	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.72247645960254E-4	0.012
18	39607327	T	G	18	42027363	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.72247645960254E-4	0.01
18	39607328	T	A	18	42027364	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.84596560644911E-4	0.018
18	39607328	T	C	18	42027364	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.13112516206009E-4	0.002
18	39607328	T	G	18	42027364	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.13112516206009E-4	0.002
18	39607329	A	C	18	42027365	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	5.87347500193166E-5	0.006
18	39607329	A	G	18	42027365	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	5.87347500193166E-5	0.006
18	39607329	A	T	18	42027365	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	8.44167692826415E-5	0.006
18	39607330	G	A	18	42027366	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	2.56567834969361E-5	0.002
18	39607330	G	C	18	42027366	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	2.56567834969361E-5	0.002
18	39607330	G	T	18	42027366	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	2.56567834969361E-5	0.002
18	39607331	T	A	18	42027367	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.83128128839889E-4	0.074
18	39607331	T	C	18	42027367	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.32125095453248E-4	0.08
18	39607331	T	G	18	42027367	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.32125095453248E-4	0.08
18	39607332	G	A	18	42027368	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.32865970446788E-5	0.0
18	39607332	G	C	18	42027368	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.17825650598919E-5	0.0
18	39607332	G	T	18	42027368	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.17825650598919E-5	0.0
18	39607395	A	C	18	42027431	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.13403864481772E-4	0.026
18	39607395	A	G	18	42027431	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.998818434338825	0.974
18	39607395	A	T	18	42027431	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00160721066734866	0.018
18	39607396	C	A	18	42027432	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.51404281598707E-4	0.154
18	39607396	C	G	18	42027432	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.998767435483133	0.87
18	39607396	C	T	18	42027432	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.12871524280884E-4	0.02
18	39607397	T	A	18	42027433	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.96644723463956	0.792
18	39607397	T	C	18	42027433	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0125348682784696	0.15
18	39607397	T	G	18	42027433	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.824196361495995	0.744
18	39607398	A	C	18	42027434	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.55240189605626E-4	0.018
18	39607398	A	G	18	42027434	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.19804944433192E-4	0.01
18	39607398	A	T	18	42027434	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.05684053530929E-4	0.022
18	39607399	T	A	18	42027435	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.183859814439796	0.474
18	39607399	T	C	18	42027435	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0192687298632743	0.09
18	39607399	T	G	18	42027435	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.999950141317511	0.976
18	39607400	T	A	18	42027436	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00750375459243448	0.116
18	39607400	T	C	18	42027436	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.77923015255888E-4	0.056
18	39607400	T	G	18	42027436	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00467338254990191	0.108
18	39607401	T	A	18	42027437	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.977475041158581	0.806
18	39607401	T	C	18	42027437	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00373221140485248	0.052
18	39607401	T	G	18	42027437	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.98043861401394	0.796
18	39607402	T	A	18	42027438	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.973890625881366	0.68
18	39607402	T	C	18	42027438	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0330513291694646	0.262
18	39607402	T	G	18	42027438	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.997459688630521	0.724
18	39607403	T	A	18	42027439	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.46648350991786E-4	0.05
18	39607403	T	C	18	42027439	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	7.54919835141781E-4	0.082
18	39607403	T	G	18	42027439	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0016536207032153	0.06
18	39607404	A	C	18	42027440	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.02541900347615E-4	0.044
18	39607404	A	G	18	42027440	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.224659212017128	0.368
18	39607404	A	T	18	42027440	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.86947327596047E-4	0.016
18	39607405	A	C	18	42027441	y	y	splicing	PIK3C3(NM_002647:exon14:c.1485-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1485-2A>C;ENST00000398870:exon13:c.1296-2A>C)	.	.	0.999979394981131	0.92
18	39607405	A	G	18	42027441	y	y	splicing	PIK3C3(NM_002647:exon14:c.1485-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1485-2A>G;ENST00000398870:exon13:c.1296-2A>G)	.	.	0.999979394981131	0.92
18	39607405	A	T	18	42027441	y	y	splicing	PIK3C3(NM_002647:exon14:c.1485-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1485-2A>T;ENST00000398870:exon13:c.1296-2A>T)	.	.	0.999979394981131	0.92
18	39607406	G	A	18	42027442	y	y	splicing	PIK3C3(NM_002647:exon14:c.1485-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1485-1G>A;ENST00000398870:exon13:c.1296-1G>A)	.	.	0.999980303772886	0.916
18	39607406	G	C	18	42027442	y	y	splicing	PIK3C3(NM_002647:exon14:c.1485-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1485-1G>C;ENST00000398870:exon13:c.1296-1G>C)	.	.	0.999980303772886	0.916
18	39607406	G	T	18	42027442	y	y	splicing	PIK3C3(NM_002647:exon14:c.1485-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1485-1G>T;ENST00000398870:exon13:c.1296-1G>T)	.	.	0.999980303772886	0.916
18	39607407	G	A	18	42027443	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon14:c.G1485A:p.W495X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon14:c.G1485A:p.W495X;ENSG00000078142:ENST00000398870:exon13:c.G1296A:p.W432X;	0.99971614779375	0.93
18	39607407	G	C	18	42027443	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.G1485C:p.W495C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.G1485C:p.W495C;ENSG00000078142:ENST00000398870:exon13:c.G1296C:p.W432C;	0.999791168781082	0.96
18	39607407	G	T	18	42027443	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.G1485T:p.W495C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.G1485T:p.W495C;ENSG00000078142:ENST00000398870:exon13:c.G1296T:p.W432C;	0.999839272379837	0.986
18	39607408	T	A	18	42027444	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.T1486A:p.Y496N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.T1486A:p.Y496N;ENSG00000078142:ENST00000398870:exon13:c.T1297A:p.Y433N;	0.630436212899787	0.438
18	39607408	T	C	18	42027444	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.T1486C:p.Y496H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.T1486C:p.Y496H;ENSG00000078142:ENST00000398870:exon13:c.T1297C:p.Y433H;	0.641362195455931	0.462
18	39607408	T	G	18	42027444	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.T1486G:p.Y496D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.T1486G:p.Y496D;ENSG00000078142:ENST00000398870:exon13:c.T1297G:p.Y433D;	0.632397581170207	0.456
18	39607510	A	C	18	42027546	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.A1588C:p.K530Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.A1588C:p.K530Q;ENSG00000078142:ENST00000590013:exon2:c.A43C:p.K15Q;ENSG00000078142:ENST00000593098:exon1:c.A43C:p.K15Q;ENSG00000078142:ENST00000596052:exon2:c.A43C:p.K15Q;ENSG00000078142:ENST00000398870:exon13:c.A1399C:p.K467Q;	0.121179787835286	0.348
18	39607510	A	G	18	42027546	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.A1588G:p.K530E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.A1588G:p.K530E;ENSG00000078142:ENST00000590013:exon2:c.A43G:p.K15E;ENSG00000078142:ENST00000593098:exon1:c.A43G:p.K15E;ENSG00000078142:ENST00000596052:exon2:c.A43G:p.K15E;ENSG00000078142:ENST00000398870:exon13:c.A1399G:p.K467E;	0.136364684218613	0.202
18	39607510	A	T	18	42027546	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon14:c.A1588T:p.K530X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon14:c.A1588T:p.K530X;ENSG00000078142:ENST00000590013:exon2:c.A43T:p.K15X;ENSG00000078142:ENST00000593098:exon1:c.A43T:p.K15X;ENSG00000078142:ENST00000596052:exon2:c.A43T:p.K15X;ENSG00000078142:ENST00000398870:exon13:c.A1399T:p.K467X;	0.99820068137593	0.842
18	39607511	A	C	18	42027547	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.A1589C:p.K530T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.A1589C:p.K530T;ENSG00000078142:ENST00000590013:exon2:c.A44C:p.K15T;ENSG00000078142:ENST00000593098:exon1:c.A44C:p.K15T;ENSG00000078142:ENST00000596052:exon2:c.A44C:p.K15T;ENSG00000078142:ENST00000398870:exon13:c.A1400C:p.K467T;	0.999745381505361	0.998
18	39607511	A	G	18	42027547	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.A1589G:p.K530R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.A1589G:p.K530R;ENSG00000078142:ENST00000590013:exon2:c.A44G:p.K15R;ENSG00000078142:ENST00000593098:exon1:c.A44G:p.K15R;ENSG00000078142:ENST00000596052:exon2:c.A44G:p.K15R;ENSG00000078142:ENST00000398870:exon13:c.A1400G:p.K467R;	0.999376242815186	0.986
18	39607511	A	T	18	42027547	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.A1589T:p.K530M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.A1589T:p.K530M;ENSG00000078142:ENST00000590013:exon2:c.A44T:p.K15M;ENSG00000078142:ENST00000593098:exon1:c.A44T:p.K15M;ENSG00000078142:ENST00000596052:exon2:c.A44T:p.K15M;ENSG00000078142:ENST00000398870:exon13:c.A1400T:p.K467M;	0.99992773537413	1.0
18	39607512	G	A	18	42027548	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon14:c.G1590A:p.K530K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.G1590A:p.K530K;ENSG00000078142:ENST00000590013:exon2:c.G45A:p.K15K;ENSG00000078142:ENST00000593098:exon1:c.G45A:p.K15K;ENSG00000078142:ENST00000596052:exon2:c.G45A:p.K15K;ENSG00000078142:ENST00000398870:exon13:c.G1401A:p.K467K;	0.999919623595748	0.998
18	39607512	G	C	18	42027548	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.G1590C:p.K530N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.G1590C:p.K530N;ENSG00000078142:ENST00000590013:exon2:c.G45C:p.K15N;ENSG00000078142:ENST00000593098:exon1:c.G45C:p.K15N;ENSG00000078142:ENST00000596052:exon2:c.G45C:p.K15N;ENSG00000078142:ENST00000398870:exon13:c.G1401C:p.K467N;	0.999968763451416	0.994
18	39607512	G	T	18	42027548	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon14:c.G1590T:p.K530N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon14:c.G1590T:p.K530N;ENSG00000078142:ENST00000590013:exon2:c.G45T:p.K15N;ENSG00000078142:ENST00000593098:exon1:c.G45T:p.K15N;ENSG00000078142:ENST00000596052:exon2:c.G45T:p.K15N;ENSG00000078142:ENST00000398870:exon13:c.G1401T:p.K467N;	0.999877275137608	0.992
18	39607513	G	A	18	42027549	y	y	splicing	PIK3C3(NM_002647:exon14:c.1590+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1590+1G>A;ENST00000398870:exon13:c.1401+1G>A;ENST00000593098:exon1:c.45+1G>A;ENST00000590013:exon2:c.45+1G>A;ENST00000596052:exon2:c.45+1G>A)	.	.	0.999989072007339	0.944
18	39607513	G	C	18	42027549	y	y	splicing	PIK3C3(NM_002647:exon14:c.1590+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1590+1G>C;ENST00000398870:exon13:c.1401+1G>C;ENST00000593098:exon1:c.45+1G>C;ENST00000590013:exon2:c.45+1G>C;ENST00000596052:exon2:c.45+1G>C)	.	.	0.999989072007339	0.942
18	39607513	G	T	18	42027549	y	y	splicing	PIK3C3(NM_002647:exon14:c.1590+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1590+1G>T;ENST00000398870:exon13:c.1401+1G>T;ENST00000593098:exon1:c.45+1G>T;ENST00000590013:exon2:c.45+1G>T;ENST00000596052:exon2:c.45+1G>T)	.	.	0.999989072007339	0.944
18	39607514	T	A	18	42027550	y	y	splicing	PIK3C3(NM_002647:exon14:c.1590+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1590+2T>A;ENST00000398870:exon13:c.1401+2T>A;ENST00000593098:exon1:c.45+2T>A;ENST00000590013:exon2:c.45+2T>A;ENST00000596052:exon2:c.45+2T>A)	.	.	0.999988247793601	0.946
18	39607514	T	C	18	42027550	y	y	splicing	PIK3C3(NM_002647:exon14:c.1590+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1590+2T>C;ENST00000398870:exon13:c.1401+2T>C;ENST00000593098:exon1:c.45+2T>C;ENST00000590013:exon2:c.45+2T>C;ENST00000596052:exon2:c.45+2T>C)	.	.	0.991245725732999	0.668
18	39607514	T	G	18	42027550	y	y	splicing	PIK3C3(NM_002647:exon14:c.1590+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon14:c.1590+2T>G;ENST00000398870:exon13:c.1401+2T>G;ENST00000593098:exon1:c.45+2T>G;ENST00000590013:exon2:c.45+2T>G;ENST00000596052:exon2:c.45+2T>G)	.	.	0.999988247793601	0.946
18	39607515	A	C	18	42027551	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999949773113705	0.966
18	39607515	A	G	18	42027551	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.977982685934414	0.796
18	39607515	A	T	18	42027551	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999933956144807	0.964
18	39607516	A	C	18	42027552	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0728824931495465	0.394
18	39607516	A	G	18	42027552	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0941461883536011	0.284
18	39607516	A	T	18	42027552	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.297640294971802	0.322
18	39607517	C	A	18	42027553	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00148098590162807	0.136
18	39607517	C	G	18	42027553	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.26539396787984E-4	0.108
18	39607517	C	T	18	42027553	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00357147193217286	0.206
18	39607518	C	A	18	42027554	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.99279270720468E-5	0.0
18	39607518	C	G	18	42027554	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.484972310584E-5	0.004
18	39607518	C	T	18	42027554	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.71182572594013E-5	0.002
18	39607519	C	A	18	42027555	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.33285134764126E-6	0.0
18	39607519	C	G	18	42027555	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.25885883745395E-5	0.0
18	39607519	C	T	18	42027555	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.21617474866472E-4	0.03
18	39607520	T	A	18	42027556	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.88223927319377E-5	0.0
18	39607520	T	C	18	42027556	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.10297872310177E-5	0.0
18	39607520	T	G	18	42027556	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.88223927319377E-5	0.0
18	39609277	T	A	18	42029313	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999879485470346	0.978
18	39609277	T	C	18	42029313	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.42677166739713E-4	0.082
18	39609277	T	G	18	42029313	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.471138229700087	0.536
18	39609278	G	A	18	42029314	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00148031459721932	0.11
18	39609278	G	C	18	42029314	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.27869845376984E-4	0.024
18	39609278	G	T	18	42029314	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.74408026271091E-4	0.038
18	39609279	A	C	18	42029315	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.35727723344317E-5	0.0
18	39609279	A	G	18	42029315	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.10873131281458E-5	0.0
18	39609279	A	T	18	42029315	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.08215375876515E-5	0.016
18	39609280	A	C	18	42029316	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.89363778215953E-6	0.0
18	39609280	A	G	18	42029316	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.946801149509648	0.988
18	39609280	A	T	18	42029316	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.09762560502794E-6	0.018
18	39609281	C	A	18	42029317	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00136348655746902	0.114
18	39609281	C	G	18	42029317	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999724480011209	0.944
18	39609281	C	T	18	42029317	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.16500680997413E-5	0.002
18	39609282	C	A	18	42029318	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00277416185152599	0.098
18	39609282	C	G	18	42029318	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00749929304438603	0.148
18	39609282	C	T	18	42029318	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.94471813296118E-5	0.008
18	39609283	C	A	18	42029319	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00772091587112372	0.286
18	39609283	C	G	18	42029319	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0252427966698357	0.29
18	39609283	C	T	18	42029319	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.56123847411153E-5	0.044
18	39609284	T	A	18	42029320	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.826669975787397	0.404
18	39609284	T	C	18	42029320	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00288804677590016	0.19
18	39609284	T	G	18	42029320	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.931763092236354	0.39
18	39609285	T	A	18	42029321	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.00237377321686E-4	0.05
18	39609285	T	C	18	42029321	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.65421556441225E-4	0.036
18	39609285	T	G	18	42029321	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.0070199097913E-4	0.048
18	39609286	C	A	18	42029322	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.984625457529805	0.802
18	39609286	C	G	18	42029322	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999798909748838	0.974
18	39609286	C	T	18	42029322	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00404147125710123	0.06
18	39609287	A	C	18	42029323	y	y	splicing	PIK3C3(NM_002647:exon15:c.1591-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1591-2A>C;ENST00000398870:exon14:c.1402-2A>C;ENST00000593098:exon2:c.46-2A>C;ENST00000590013:exon3:c.46-2A>C;ENST00000596052:exon3:c.46-2A>C)	.	.	0.999989475352021	0.92
18	39609287	A	G	18	42029323	y	y	splicing	PIK3C3(NM_002647:exon15:c.1591-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1591-2A>G;ENST00000398870:exon14:c.1402-2A>G;ENST00000593098:exon2:c.46-2A>G;ENST00000590013:exon3:c.46-2A>G;ENST00000596052:exon3:c.46-2A>G)	.	.	0.999989475352021	0.92
18	39609287	A	T	18	42029323	y	y	splicing	PIK3C3(NM_002647:exon15:c.1591-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1591-2A>T;ENST00000398870:exon14:c.1402-2A>T;ENST00000593098:exon2:c.46-2A>T;ENST00000590013:exon3:c.46-2A>T;ENST00000596052:exon3:c.46-2A>T)	.	.	0.999989475352021	0.918
18	39609288	G	A	18	42029324	y	y	splicing	PIK3C3(NM_002647:exon15:c.1591-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1591-1G>A;ENST00000398870:exon14:c.1402-1G>A;ENST00000593098:exon2:c.46-1G>A;ENST00000590013:exon3:c.46-1G>A;ENST00000596052:exon3:c.46-1G>A)	.	.	0.999992425382947	0.94
18	39609288	G	C	18	42029324	y	y	splicing	PIK3C3(NM_002647:exon15:c.1591-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1591-1G>C;ENST00000398870:exon14:c.1402-1G>C;ENST00000593098:exon2:c.46-1G>C;ENST00000590013:exon3:c.46-1G>C;ENST00000596052:exon3:c.46-1G>C)	.	.	0.999992425382947	0.94
18	39609288	G	T	18	42029324	y	y	splicing	PIK3C3(NM_002647:exon15:c.1591-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1591-1G>T;ENST00000398870:exon14:c.1402-1G>T;ENST00000593098:exon2:c.46-1G>T;ENST00000590013:exon3:c.46-1G>T;ENST00000596052:exon3:c.46-1G>T)	.	.	0.999992425382947	0.94
18	39609289	G	A	18	42029325	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.G1591A:p.G531S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1591A:p.G531S;ENSG00000078142:ENST00000590013:exon3:c.G46A:p.G16S;ENSG00000078142:ENST00000593098:exon2:c.G46A:p.G16S;ENSG00000078142:ENST00000596052:exon3:c.G46A:p.G16S;ENSG00000078142:ENST00000398870:exon14:c.G1402A:p.G468S;	0.999831658607924	0.918
18	39609289	G	C	18	42029325	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.G1591C:p.G531R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1591C:p.G531R;ENSG00000078142:ENST00000590013:exon3:c.G46C:p.G16R;ENSG00000078142:ENST00000593098:exon2:c.G46C:p.G16R;ENSG00000078142:ENST00000596052:exon3:c.G46C:p.G16R;ENSG00000078142:ENST00000398870:exon14:c.G1402C:p.G468R;	0.99984727872191	0.982
18	39609289	G	T	18	42029325	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.G1591T:p.G531C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1591T:p.G531C;ENSG00000078142:ENST00000590013:exon3:c.G46T:p.G16C;ENSG00000078142:ENST00000593098:exon2:c.G46T:p.G16C;ENSG00000078142:ENST00000596052:exon3:c.G46T:p.G16C;ENSG00000078142:ENST00000398870:exon14:c.G1402T:p.G468C;	0.999917485963359	0.982
18	39609290	G	A	18	42029326	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.G1592A:p.G531D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1592A:p.G531D;ENSG00000078142:ENST00000590013:exon3:c.G47A:p.G16D;ENSG00000078142:ENST00000593098:exon2:c.G47A:p.G16D;ENSG00000078142:ENST00000596052:exon3:c.G47A:p.G16D;ENSG00000078142:ENST00000398870:exon14:c.G1403A:p.G468D;	0.985933913954441	0.878
18	39609290	G	C	18	42029326	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.G1592C:p.G531A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1592C:p.G531A;ENSG00000078142:ENST00000590013:exon3:c.G47C:p.G16A;ENSG00000078142:ENST00000593098:exon2:c.G47C:p.G16A;ENSG00000078142:ENST00000596052:exon3:c.G47C:p.G16A;ENSG00000078142:ENST00000398870:exon14:c.G1403C:p.G468A;	0.981429353881469	0.832
18	39609290	G	T	18	42029326	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.G1592T:p.G531V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1592T:p.G531V;ENSG00000078142:ENST00000590013:exon3:c.G47T:p.G16V;ENSG00000078142:ENST00000593098:exon2:c.G47T:p.G16V;ENSG00000078142:ENST00000596052:exon3:c.G47T:p.G16V;ENSG00000078142:ENST00000398870:exon14:c.G1403T:p.G468V;	0.980738302444458	0.85
18	39609403	A	C	18	42029439	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.A1705C:p.K569Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.A1705C:p.K569Q;ENSG00000078142:ENST00000590013:exon3:c.A160C:p.K54Q;ENSG00000078142:ENST00000593098:exon2:c.A160C:p.K54Q;ENSG00000078142:ENST00000398870:exon14:c.A1516C:p.K506Q;	0.905303356512285	0.79
18	39609403	A	G	18	42029439	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.A1705G:p.K569E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.A1705G:p.K569E;ENSG00000078142:ENST00000590013:exon3:c.A160G:p.K54E;ENSG00000078142:ENST00000593098:exon2:c.A160G:p.K54E;ENSG00000078142:ENST00000398870:exon14:c.A1516G:p.K506E;	0.644191190264655	0.538
18	39609403	A	T	18	42029439	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon15:c.A1705T:p.K569X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon15:c.A1705T:p.K569X;ENSG00000078142:ENST00000590013:exon3:c.A160T:p.K54X;ENSG00000078142:ENST00000593098:exon2:c.A160T:p.K54X;ENSG00000078142:ENST00000398870:exon14:c.A1516T:p.K506X;	0.983061332388771	0.676
18	39609404	A	C	18	42029440	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.A1706C:p.K569T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.A1706C:p.K569T;ENSG00000078142:ENST00000590013:exon3:c.A161C:p.K54T;ENSG00000078142:ENST00000593098:exon2:c.A161C:p.K54T;ENSG00000078142:ENST00000398870:exon14:c.A1517C:p.K506T;	0.990567479551335	0.822
18	39609404	A	G	18	42029440	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.A1706G:p.K569R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.A1706G:p.K569R;ENSG00000078142:ENST00000590013:exon3:c.A161G:p.K54R;ENSG00000078142:ENST00000593098:exon2:c.A161G:p.K54R;ENSG00000078142:ENST00000398870:exon14:c.A1517G:p.K506R;	0.994130555961049	0.876
18	39609404	A	T	18	42029440	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.A1706T:p.K569M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.A1706T:p.K569M;ENSG00000078142:ENST00000590013:exon3:c.A161T:p.K54M;ENSG00000078142:ENST00000593098:exon2:c.A161T:p.K54M;ENSG00000078142:ENST00000398870:exon14:c.A1517T:p.K506M;	0.991837986402848	0.63
18	39609405	G	A	18	42029441	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon15:c.G1707A:p.K569K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1707A:p.K569K;ENSG00000078142:ENST00000590013:exon3:c.G162A:p.K54K;ENSG00000078142:ENST00000593098:exon2:c.G162A:p.K54K;ENSG00000078142:ENST00000398870:exon14:c.G1518A:p.K506K;	0.999911616672916	0.9
18	39609405	G	C	18	42029441	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.G1707C:p.K569N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1707C:p.K569N;ENSG00000078142:ENST00000590013:exon3:c.G162C:p.K54N;ENSG00000078142:ENST00000593098:exon2:c.G162C:p.K54N;ENSG00000078142:ENST00000398870:exon14:c.G1518C:p.K506N;	0.999952238537358	0.916
18	39609405	G	T	18	42029441	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon15:c.G1707T:p.K569N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon15:c.G1707T:p.K569N;ENSG00000078142:ENST00000590013:exon3:c.G162T:p.K54N;ENSG00000078142:ENST00000593098:exon2:c.G162T:p.K54N;ENSG00000078142:ENST00000398870:exon14:c.G1518T:p.K506N;	0.999910230281195	0.982
18	39609406	G	A	18	42029442	y	y	splicing	PIK3C3(NM_002647:exon15:c.1707+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1707+1G>A;ENST00000398870:exon14:c.1518+1G>A;ENST00000593098:exon2:c.162+1G>A;ENST00000590013:exon3:c.162+1G>A)	.	.	0.999990361384395	0.938
18	39609406	G	C	18	42029442	y	y	splicing	PIK3C3(NM_002647:exon15:c.1707+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1707+1G>C;ENST00000398870:exon14:c.1518+1G>C;ENST00000593098:exon2:c.162+1G>C;ENST00000590013:exon3:c.162+1G>C)	.	.	0.999990361384395	0.938
18	39609406	G	T	18	42029442	y	y	splicing	PIK3C3(NM_002647:exon15:c.1707+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1707+1G>T;ENST00000398870:exon14:c.1518+1G>T;ENST00000593098:exon2:c.162+1G>T;ENST00000590013:exon3:c.162+1G>T)	.	.	0.999990361384395	0.938
18	39609407	T	A	18	42029443	y	y	splicing	PIK3C3(NM_002647:exon15:c.1707+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1707+2T>A;ENST00000398870:exon14:c.1518+2T>A;ENST00000593098:exon2:c.162+2T>A;ENST00000590013:exon3:c.162+2T>A)	.	.	0.999988247793601	0.932
18	39609407	T	C	18	42029443	y	y	splicing	PIK3C3(NM_002647:exon15:c.1707+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1707+2T>C;ENST00000398870:exon14:c.1518+2T>C;ENST00000593098:exon2:c.162+2T>C;ENST00000590013:exon3:c.162+2T>C)	.	.	0.996388929962285	0.714
18	39609407	T	G	18	42029443	y	y	splicing	PIK3C3(NM_002647:exon15:c.1707+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon15:c.1707+2T>G;ENST00000398870:exon14:c.1518+2T>G;ENST00000593098:exon2:c.162+2T>G;ENST00000590013:exon3:c.162+2T>G)	.	.	0.999988247793601	0.932
18	39609408	A	C	18	42029444	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.942176320594709	0.824
18	39609408	A	G	18	42029444	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.139717324135087	0.242
18	39609408	A	T	18	42029444	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.982844102160449	0.792
18	39609409	A	C	18	42029445	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.179010886464872	0.386
18	39609409	A	G	18	42029445	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.315876979619094	0.384
18	39609409	A	T	18	42029445	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.119707818953117	0.376
18	39609410	G	A	18	42029446	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.764966837177734	0.452
18	39609410	G	C	18	42029446	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.572455711511524	0.47
18	39609410	G	T	18	42029446	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.961560904842681	0.48
18	39609411	C	A	18	42029447	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.7807126003515E-5	0.012
18	39609411	C	G	18	42029447	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.26558198892508E-4	0.034
18	39609411	C	T	18	42029447	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.56309952332504E-5	0.0
18	39609412	C	A	18	42029448	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.286915448822E-4	0.01
18	39609412	C	G	18	42029448	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.32025213120175E-4	0.0
18	39609412	C	T	18	42029448	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.286915448822E-4	0.0
18	39609413	T	A	18	42029449	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.14806382485061E-5	0.0
18	39609413	T	C	18	42029449	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.01315188657279E-5	0.0
18	39609413	T	G	18	42029449	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.14806382485061E-5	0.0
18	39613778	G	A	18	42033814	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.21403213528283E-5	0.002
18	39613778	G	C	18	42033814	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.69953273733539E-5	0.0
18	39613778	G	T	18	42033814	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.40863676916336E-5	0.002
18	39613779	A	C	18	42033815	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.38596525289868E-5	0.006
18	39613779	A	G	18	42033815	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.58022028590889E-4	0.012
18	39613779	A	T	18	42033815	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.7004526332579E-4	0.11
18	39613780	T	A	18	42033816	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.022491047139203	0.414
18	39613780	T	C	18	42033816	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00207715806166047	0.136
18	39613780	T	G	18	42033816	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999720557023796	0.94
18	39613781	T	A	18	42033817	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.242009673329851	0.632
18	39613781	T	C	18	42033817	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00118639142605832	0.054
18	39613781	T	G	18	42033817	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.308698992082107	0.52
18	39613782	T	A	18	42033818	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999893402548816	0.996
18	39613782	T	C	18	42033818	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.3982168743565E-4	0.0
18	39613782	T	G	18	42033818	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00882012991706298	0.204
18	39613783	G	A	18	42033819	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.30347505108716E-5	0.0
18	39613783	G	C	18	42033819	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.39210010718104E-5	0.0
18	39613783	G	T	18	42033819	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.39210010718104E-5	0.012
18	39613784	T	A	18	42033820	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0113835444250025	0.366
18	39613784	T	C	18	42033820	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.56296168033026E-4	0.03
18	39613784	T	G	18	42033820	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0841059620912696	0.392
18	39613785	T	A	18	42033821	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.501271394268157	0.498
18	39613785	T	C	18	42033821	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.12731242609055E-4	0.042
18	39613785	T	G	18	42033821	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.713962176113067	0.526
18	39613786	C	A	18	42033822	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.06575848182674E-4	0.0
18	39613786	C	G	18	42033822	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.31703256828933E-4	0.02
18	39613786	C	T	18	42033822	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.75565644072746E-5	0.0
18	39613787	T	A	18	42033823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.917960159506581	0.502
18	39613787	T	C	18	42033823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.67528544533502E-4	0.018
18	39613787	T	G	18	42033823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.94950385187369	0.838
18	39613788	A	C	18	42033824	y	y	splicing	PIK3C3(NM_002647:exon16:c.1708-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1708-2A>C;ENST00000398870:exon15:c.1519-2A>C;ENST00000593098:exon3:c.163-2A>C;ENST00000590013:exon4:c.163-2A>C)	.	.	0.999988247793601	0.928
18	39613788	A	G	18	42033824	y	y	splicing	PIK3C3(NM_002647:exon16:c.1708-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1708-2A>G;ENST00000398870:exon15:c.1519-2A>G;ENST00000593098:exon3:c.163-2A>G;ENST00000590013:exon4:c.163-2A>G)	.	.	0.999988247793601	0.928
18	39613788	A	T	18	42033824	y	y	splicing	PIK3C3(NM_002647:exon16:c.1708-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1708-2A>T;ENST00000398870:exon15:c.1519-2A>T;ENST00000593098:exon3:c.163-2A>T;ENST00000590013:exon4:c.163-2A>T)	.	.	0.999988247793601	0.928
18	39613789	G	A	18	42033825	y	y	splicing	PIK3C3(NM_002647:exon16:c.1708-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1708-1G>A;ENST00000398870:exon15:c.1519-1G>A;ENST00000593098:exon3:c.163-1G>A;ENST00000590013:exon4:c.163-1G>A)	.	.	0.999989263107695	0.934
18	39613789	G	C	18	42033825	y	y	splicing	PIK3C3(NM_002647:exon16:c.1708-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1708-1G>C;ENST00000398870:exon15:c.1519-1G>C;ENST00000593098:exon3:c.163-1G>C;ENST00000590013:exon4:c.163-1G>C)	.	.	0.999989263107695	0.934
18	39613789	G	T	18	42033825	y	y	splicing	PIK3C3(NM_002647:exon16:c.1708-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1708-1G>T;ENST00000398870:exon15:c.1519-1G>T;ENST00000593098:exon3:c.163-1G>T;ENST00000590013:exon4:c.163-1G>T)	.	.	0.999989263107695	0.934
18	39613790	A	C	18	42033826	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1708C:p.N570H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1708C:p.N570H;ENSG00000078142:ENST00000590013:exon4:c.A163C:p.N55H;ENSG00000078142:ENST00000593098:exon3:c.A163C:p.N55H;ENSG00000078142:ENST00000398870:exon15:c.A1519C:p.N507H;	0.764723244823593	0.498
18	39613790	A	G	18	42033826	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1708G:p.N570D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1708G:p.N570D;ENSG00000078142:ENST00000590013:exon4:c.A163G:p.N55D;ENSG00000078142:ENST00000593098:exon3:c.A163G:p.N55D;ENSG00000078142:ENST00000398870:exon15:c.A1519G:p.N507D;	0.565936434599917	0.444
18	39613790	A	T	18	42033826	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1708T:p.N570Y;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1708T:p.N570Y;ENSG00000078142:ENST00000590013:exon4:c.A163T:p.N55Y;ENSG00000078142:ENST00000593098:exon3:c.A163T:p.N55Y;ENSG00000078142:ENST00000398870:exon15:c.A1519T:p.N507Y;	0.52422849748853	0.45
18	39613791	A	C	18	42033827	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1709C:p.N570T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1709C:p.N570T;ENSG00000078142:ENST00000590013:exon4:c.A164C:p.N55T;ENSG00000078142:ENST00000593098:exon3:c.A164C:p.N55T;ENSG00000078142:ENST00000398870:exon15:c.A1520C:p.N507T;	2.30055828381296E-4	0.03
18	39613791	A	G	18	42033827	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1709G:p.N570S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1709G:p.N570S;ENSG00000078142:ENST00000590013:exon4:c.A164G:p.N55S;ENSG00000078142:ENST00000593098:exon3:c.A164G:p.N55S;ENSG00000078142:ENST00000398870:exon15:c.A1520G:p.N507S;	3.23418626543252E-4	0.022
18	39613791	A	T	18	42033827	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1709T:p.N570I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1709T:p.N570I;ENSG00000078142:ENST00000590013:exon4:c.A164T:p.N55I;ENSG00000078142:ENST00000593098:exon3:c.A164T:p.N55I;ENSG00000078142:ENST00000398870:exon15:c.A1520T:p.N507I;	7.81284131207138E-5	0.0
18	39613919	A	C	18	42033955	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1837C:p.K613Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1837C:p.K613Q;ENSG00000078142:ENST00000590013:exon4:c.A292C:p.K98Q;ENSG00000078142:ENST00000593098:exon3:c.A292C:p.K98Q;ENSG00000078142:ENST00000398870:exon15:c.A1648C:p.K550Q;	0.0382942787972787	0.424
18	39613919	A	G	18	42033955	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1837G:p.K613E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1837G:p.K613E;ENSG00000078142:ENST00000590013:exon4:c.A292G:p.K98E;ENSG00000078142:ENST00000593098:exon3:c.A292G:p.K98E;ENSG00000078142:ENST00000398870:exon15:c.A1648G:p.K550E;	0.0401559152822313	0.32
18	39613919	A	T	18	42033955	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon16:c.A1837T:p.K613X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon16:c.A1837T:p.K613X;ENSG00000078142:ENST00000590013:exon4:c.A292T:p.K98X;ENSG00000078142:ENST00000593098:exon3:c.A292T:p.K98X;ENSG00000078142:ENST00000398870:exon15:c.A1648T:p.K550X;	0.99630482966945	0.89
18	39613920	A	C	18	42033956	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1838C:p.K613T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1838C:p.K613T;ENSG00000078142:ENST00000590013:exon4:c.A293C:p.K98T;ENSG00000078142:ENST00000593098:exon3:c.A293C:p.K98T;ENSG00000078142:ENST00000398870:exon15:c.A1649C:p.K550T;	0.999902899180776	0.968
18	39613920	A	G	18	42033956	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1838G:p.K613R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1838G:p.K613R;ENSG00000078142:ENST00000590013:exon4:c.A293G:p.K98R;ENSG00000078142:ENST00000593098:exon3:c.A293G:p.K98R;ENSG00000078142:ENST00000398870:exon15:c.A1649G:p.K550R;	0.999700036099396	0.974
18	39613920	A	T	18	42033956	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1838T:p.K613I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1838T:p.K613I;ENSG00000078142:ENST00000590013:exon4:c.A293T:p.K98I;ENSG00000078142:ENST00000593098:exon3:c.A293T:p.K98I;ENSG00000078142:ENST00000398870:exon15:c.A1649T:p.K550I;	0.999954912508114	1.0
18	39613921	A	C	18	42033957	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1839C:p.K613N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1839C:p.K613N;ENSG00000078142:ENST00000590013:exon4:c.A294C:p.K98N;ENSG00000078142:ENST00000593098:exon3:c.A294C:p.K98N;ENSG00000078142:ENST00000398870:exon15:c.A1650C:p.K550N;	0.0102387926090593	0.362
18	39613921	A	G	18	42033957	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon16:c.A1839G:p.K613K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1839G:p.K613K;ENSG00000078142:ENST00000590013:exon4:c.A294G:p.K98K;ENSG00000078142:ENST00000593098:exon3:c.A294G:p.K98K;ENSG00000078142:ENST00000398870:exon15:c.A1650G:p.K550K;	4.40076071002171E-4	0.018
18	39613921	A	T	18	42033957	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon16:c.A1839T:p.K613N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon16:c.A1839T:p.K613N;ENSG00000078142:ENST00000590013:exon4:c.A294T:p.K98N;ENSG00000078142:ENST00000593098:exon3:c.A294T:p.K98N;ENSG00000078142:ENST00000398870:exon15:c.A1650T:p.K550N;	0.046909092759095	0.348
18	39613922	G	A	18	42033958	y	y	splicing	PIK3C3(NM_002647:exon16:c.1839+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1839+1G>A;ENST00000398870:exon15:c.1650+1G>A;ENST00000593098:exon3:c.294+1G>A;ENST00000590013:exon4:c.294+1G>A;ENST00000597477:exon1:c.116+1G>A)	.	.	0.999983677848485	0.94
18	39613922	G	C	18	42033958	y	y	splicing	PIK3C3(NM_002647:exon16:c.1839+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1839+1G>C;ENST00000398870:exon15:c.1650+1G>C;ENST00000593098:exon3:c.294+1G>C;ENST00000590013:exon4:c.294+1G>C;ENST00000597477:exon1:c.116+1G>C)	.	.	0.999983677848485	0.94
18	39613922	G	T	18	42033958	y	y	splicing	PIK3C3(NM_002647:exon16:c.1839+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1839+1G>T;ENST00000398870:exon15:c.1650+1G>T;ENST00000593098:exon3:c.294+1G>T;ENST00000590013:exon4:c.294+1G>T;ENST00000597477:exon1:c.116+1G>T)	.	.	0.999983677848485	0.94
18	39613923	T	A	18	42033959	y	y	splicing	PIK3C3(NM_002647:exon16:c.1839+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1839+2T>A;ENST00000398870:exon15:c.1650+2T>A;ENST00000593098:exon3:c.294+2T>A;ENST00000590013:exon4:c.294+2T>A;ENST00000597477:exon1:c.116+2T>A)	.	.	0.999986741007567	0.94
18	39613923	T	C	18	42033959	y	y	splicing	PIK3C3(NM_002647:exon16:c.1839+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1839+2T>C;ENST00000398870:exon15:c.1650+2T>C;ENST00000593098:exon3:c.294+2T>C;ENST00000590013:exon4:c.294+2T>C;ENST00000597477:exon1:c.116+2T>C)	.	.	0.986306860249718	0.656
18	39613923	T	G	18	42033959	y	y	splicing	PIK3C3(NM_002647:exon16:c.1839+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon16:c.1839+2T>G;ENST00000398870:exon15:c.1650+2T>G;ENST00000593098:exon3:c.294+2T>G;ENST00000590013:exon4:c.294+2T>G;ENST00000597477:exon1:c.116+2T>G)	.	.	0.999986741007567	0.94
18	39613924	A	C	18	42033960	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999408987106814	0.936
18	39613924	A	G	18	42033960	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998909144125774	0.904
18	39613924	A	T	18	42033960	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999647631328515	0.972
18	39613925	A	C	18	42033961	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.995009579776953	0.752
18	39613925	A	G	18	42033961	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999058502861308	0.868
18	39613925	A	T	18	42033961	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99346741489799	0.844
18	39613926	T	A	18	42033962	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.40115627878818E-4	0.064
18	39613926	T	C	18	42033962	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.17888383899443E-4	0.054
18	39613926	T	G	18	42033962	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.55661714762564E-4	0.042
18	39613927	T	A	18	42033963	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.96754173647305	0.596
18	39613927	T	C	18	42033963	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99619807441514	0.718
18	39613927	T	G	18	42033963	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.928385024888051	0.63
18	39613928	G	A	18	42033964	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.26970350896913E-5	0.008
18	39613928	G	C	18	42033964	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.96651099410401E-5	0.008
18	39613928	G	T	18	42033964	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.14922006515205E-4	0.008
18	39613929	T	A	18	42033965	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.98899330703245E-4	0.086
18	39613929	T	C	18	42033965	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.87747441935374E-4	0.022
18	39613929	T	G	18	42033965	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.39329356743916E-4	0.036
18	39617644	T	A	18	42037680	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0235667349241625	0.248
18	39617644	T	C	18	42037680	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00543892559082919	0.11
18	39617644	T	G	18	42037680	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0455075226169965	0.234
18	39617645	T	A	18	42037681	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0522530903340566	0.33
18	39617645	T	C	18	42037681	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00501272135561566	0.128
18	39617645	T	G	18	42037681	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00629960829447523	0.228
18	39617646	T	A	18	42037682	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.100837510290505	0.256
18	39617646	T	C	18	42037682	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00476888544472765	0.14
18	39617646	T	G	18	42037682	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.13697919673348	0.236
18	39617647	A	C	18	42037683	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.51521264149529E-6	0.004
18	39617647	A	G	18	42037683	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.01827712250394E-5	0.002
18	39617647	A	T	18	42037683	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.23015052175173E-5	0.022
18	39617648	T	A	18	42037684	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0851297383497228	0.132
18	39617648	T	C	18	42037684	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00875411953161266	0.076
18	39617648	T	G	18	42037684	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999875663938473	0.946
18	39617649	T	A	18	42037685	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.81152299112401E-4	0.138
18	39617649	T	C	18	42037685	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.59058488639903E-5	0.0
18	39617649	T	G	18	42037685	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00123260230297769	0.196
18	39617650	T	A	18	42037686	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0752054514746707	0.278
18	39617650	T	C	18	42037686	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.70811114492287E-4	0.03
18	39617650	T	G	18	42037686	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0511294303115802	0.278
18	39617651	T	A	18	42037687	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.182089468708372	0.308
18	39617651	T	C	18	42037687	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00578269590882554	0.084
18	39617651	T	G	18	42037687	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.186696326257922	0.33
18	39617652	C	A	18	42037688	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.3399520281322E-5	0.014
18	39617652	C	G	18	42037688	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.02918375458246E-5	0.014
18	39617652	C	T	18	42037688	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57620038168692E-5	0.008
18	39617653	C	A	18	42037689	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998444324400403	0.89
18	39617653	C	G	18	42037689	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999898959799001	0.95
18	39617653	C	T	18	42037689	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.219700203983636	0.212
18	39617654	A	C	18	42037690	y	y	splicing	PIK3C3(NM_002647:exon17:c.1840-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1840-2A>C;ENST00000398870:exon16:c.1651-2A>C;ENST00000593098:exon4:c.295-2A>C;ENST00000590013:exon5:c.295-2A>C;ENST00000597477:exon2:c.117-2A>C)	.	.	0.999988247793601	0.932
18	39617654	A	G	18	42037690	y	y	splicing	PIK3C3(NM_002647:exon17:c.1840-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1840-2A>G;ENST00000398870:exon16:c.1651-2A>G;ENST00000593098:exon4:c.295-2A>G;ENST00000590013:exon5:c.295-2A>G;ENST00000597477:exon2:c.117-2A>G)	.	.	0.999988247793601	0.932
18	39617654	A	T	18	42037690	y	y	splicing	PIK3C3(NM_002647:exon17:c.1840-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1840-2A>T;ENST00000398870:exon16:c.1651-2A>T;ENST00000593098:exon4:c.295-2A>T;ENST00000590013:exon5:c.295-2A>T;ENST00000597477:exon2:c.117-2A>T)	.	.	0.999988247793601	0.932
18	39617655	G	A	18	42037691	y	y	splicing	PIK3C3(NM_002647:exon17:c.1840-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1840-1G>A;ENST00000398870:exon16:c.1651-1G>A;ENST00000593098:exon4:c.295-1G>A;ENST00000590013:exon5:c.295-1G>A;ENST00000597477:exon2:c.117-1G>A)	.	.	0.999990361384395	0.938
18	39617655	G	C	18	42037691	y	y	splicing	PIK3C3(NM_002647:exon17:c.1840-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1840-1G>C;ENST00000398870:exon16:c.1651-1G>C;ENST00000593098:exon4:c.295-1G>C;ENST00000590013:exon5:c.295-1G>C;ENST00000597477:exon2:c.117-1G>C)	.	.	0.999990361384395	0.938
18	39617655	G	T	18	42037691	y	y	splicing	PIK3C3(NM_002647:exon17:c.1840-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1840-1G>T;ENST00000398870:exon16:c.1651-1G>T;ENST00000593098:exon4:c.295-1G>T;ENST00000590013:exon5:c.295-1G>T;ENST00000597477:exon2:c.117-1G>T)	.	.	0.999990361384395	0.938
18	39617656	A	C	18	42037692	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.A1840C:p.S614R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.A1840C:p.S614R;ENSG00000078142:ENST00000590013:exon5:c.A295C:p.S99R;ENSG00000078142:ENST00000593098:exon4:c.A295C:p.S99R;ENSG00000078142:ENST00000398870:exon16:c.A1651C:p.S551R;	0.813521944533333	0.648
18	39617656	A	G	18	42037692	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.A1840G:p.S614G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.A1840G:p.S614G;ENSG00000078142:ENST00000590013:exon5:c.A295G:p.S99G;ENSG00000078142:ENST00000593098:exon4:c.A295G:p.S99G;ENSG00000078142:ENST00000398870:exon16:c.A1651G:p.S551G;	0.733339250604867	0.714
18	39617656	A	T	18	42037692	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.A1840T:p.S614C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.A1840T:p.S614C;ENSG00000078142:ENST00000590013:exon5:c.A295T:p.S99C;ENSG00000078142:ENST00000593098:exon4:c.A295T:p.S99C;ENSG00000078142:ENST00000398870:exon16:c.A1651T:p.S551C;	0.556445051330683	0.584
18	39617657	G	A	18	42037693	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.G1841A:p.S614N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.G1841A:p.S614N;ENSG00000078142:ENST00000590013:exon5:c.G296A:p.S99N;ENSG00000078142:ENST00000593098:exon4:c.G296A:p.S99N;ENSG00000078142:ENST00000398870:exon16:c.G1652A:p.S551N;	0.991269670651194	0.88
18	39617657	G	C	18	42037693	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.G1841C:p.S614T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.G1841C:p.S614T;ENSG00000078142:ENST00000590013:exon5:c.G296C:p.S99T;ENSG00000078142:ENST00000593098:exon4:c.G296C:p.S99T;ENSG00000078142:ENST00000398870:exon16:c.G1652C:p.S551T;	0.97916501068419	0.892
18	39617657	G	T	18	42037693	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.G1841T:p.S614I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.G1841T:p.S614I;ENSG00000078142:ENST00000590013:exon5:c.G296T:p.S99I;ENSG00000078142:ENST00000593098:exon4:c.G296T:p.S99I;ENSG00000078142:ENST00000398870:exon16:c.G1652T:p.S551I;	0.98100625610354	0.898
18	39617782	A	C	18	42037818	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.A1966C:p.K656Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.A1966C:p.K656Q;ENSG00000078142:ENST00000587402:exon1:c.A7C:p.K3Q;ENSG00000078142:ENST00000593098:exon4:c.A421C:p.K141Q;ENSG00000078142:ENST00000398870:exon16:c.A1777C:p.K593Q;ENSG00000078142:ENST00000589056:exon1:c.A7C:p.K3Q;	0.908008966177615	0.714
18	39617782	A	G	18	42037818	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.A1966G:p.K656E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.A1966G:p.K656E;ENSG00000078142:ENST00000587402:exon1:c.A7G:p.K3E;ENSG00000078142:ENST00000593098:exon4:c.A421G:p.K141E;ENSG00000078142:ENST00000398870:exon16:c.A1777G:p.K593E;ENSG00000078142:ENST00000589056:exon1:c.A7G:p.K3E;	0.933437784208618	0.594
18	39617782	A	T	18	42037818	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon17:c.A1966T:p.K656X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon17:c.A1966T:p.K656X;ENSG00000078142:ENST00000587402:exon1:c.A7T:p.K3X;ENSG00000078142:ENST00000593098:exon4:c.A421T:p.K141X;ENSG00000078142:ENST00000398870:exon16:c.A1777T:p.K593X;ENSG00000078142:ENST00000589056:exon1:c.A7T:p.K3X;	0.999644128373896	0.9
18	39617783	A	C	18	42037819	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.A1967C:p.K656T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.A1967C:p.K656T;ENSG00000078142:ENST00000587402:exon1:c.A8C:p.K3T;ENSG00000078142:ENST00000593098:exon4:c.A422C:p.K141T;ENSG00000078142:ENST00000398870:exon16:c.A1778C:p.K593T;ENSG00000078142:ENST00000589056:exon1:c.A8C:p.K3T;	0.999894179951736	0.996
18	39617783	A	G	18	42037819	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.A1967G:p.K656R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.A1967G:p.K656R;ENSG00000078142:ENST00000587402:exon1:c.A8G:p.K3R;ENSG00000078142:ENST00000593098:exon4:c.A422G:p.K141R;ENSG00000078142:ENST00000398870:exon16:c.A1778G:p.K593R;ENSG00000078142:ENST00000589056:exon1:c.A8G:p.K3R;	0.999884509973337	0.992
18	39617783	A	T	18	42037819	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.A1967T:p.K656M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.A1967T:p.K656M;ENSG00000078142:ENST00000587402:exon1:c.A8T:p.K3M;ENSG00000078142:ENST00000593098:exon4:c.A422T:p.K141M;ENSG00000078142:ENST00000398870:exon16:c.A1778T:p.K593M;ENSG00000078142:ENST00000589056:exon1:c.A8T:p.K3M;	0.999980736929449	0.998
18	39617784	G	A	18	42037820	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon17:c.G1968A:p.K656K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.G1968A:p.K656K;ENSG00000078142:ENST00000587402:exon1:c.G9A:p.K3K;ENSG00000078142:ENST00000593098:exon4:c.G423A:p.K141K;ENSG00000078142:ENST00000398870:exon16:c.G1779A:p.K593K;ENSG00000078142:ENST00000589056:exon1:c.G9A:p.K3K;	0.999989145670475	1.0
18	39617784	G	C	18	42037820	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.G1968C:p.K656N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.G1968C:p.K656N;ENSG00000078142:ENST00000587402:exon1:c.G9C:p.K3N;ENSG00000078142:ENST00000593098:exon4:c.G423C:p.K141N;ENSG00000078142:ENST00000398870:exon16:c.G1779C:p.K593N;ENSG00000078142:ENST00000589056:exon1:c.G9C:p.K3N;	0.999997037154866	0.998
18	39617784	G	T	18	42037820	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon17:c.G1968T:p.K656N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon17:c.G1968T:p.K656N;ENSG00000078142:ENST00000587402:exon1:c.G9T:p.K3N;ENSG00000078142:ENST00000593098:exon4:c.G423T:p.K141N;ENSG00000078142:ENST00000398870:exon16:c.G1779T:p.K593N;ENSG00000078142:ENST00000589056:exon1:c.G9T:p.K3N;	0.999987369804293	0.998
18	39617785	G	A	18	42037821	y	y	splicing	PIK3C3(NM_002647:exon17:c.1968+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1968+1G>A;ENST00000398870:exon16:c.1779+1G>A;ENST00000593098:exon4:c.423+1G>A;ENST00000597477:exon2:c.245+1G>A;ENST00000589056:exon1:c.9+1G>A;ENST00000587402:exon1:c.9+1G>A)	.	.	0.999992425382947	0.942
18	39617785	G	C	18	42037821	y	y	splicing	PIK3C3(NM_002647:exon17:c.1968+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1968+1G>C;ENST00000398870:exon16:c.1779+1G>C;ENST00000593098:exon4:c.423+1G>C;ENST00000597477:exon2:c.245+1G>C;ENST00000589056:exon1:c.9+1G>C;ENST00000587402:exon1:c.9+1G>C)	.	.	0.999992425382947	0.942
18	39617785	G	T	18	42037821	y	y	splicing	PIK3C3(NM_002647:exon17:c.1968+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1968+1G>T;ENST00000398870:exon16:c.1779+1G>T;ENST00000593098:exon4:c.423+1G>T;ENST00000597477:exon2:c.245+1G>T;ENST00000589056:exon1:c.9+1G>T;ENST00000587402:exon1:c.9+1G>T)	.	.	0.999992425382947	0.942
18	39617786	T	A	18	42037822	y	y	splicing	PIK3C3(NM_002647:exon17:c.1968+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1968+2T>A;ENST00000398870:exon16:c.1779+2T>A;ENST00000593098:exon4:c.423+2T>A;ENST00000597477:exon2:c.245+2T>A;ENST00000589056:exon1:c.9+2T>A;ENST00000587402:exon1:c.9+2T>A)	.	.	0.999990764389106	0.944
18	39617786	T	C	18	42037822	y	y	splicing	PIK3C3(NM_002647:exon17:c.1968+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1968+2T>C;ENST00000398870:exon16:c.1779+2T>C;ENST00000593098:exon4:c.423+2T>C;ENST00000597477:exon2:c.245+2T>C;ENST00000589056:exon1:c.9+2T>C;ENST00000587402:exon1:c.9+2T>C)	.	.	0.999936210417551	0.884
18	39617786	T	G	18	42037822	y	y	splicing	PIK3C3(NM_002647:exon17:c.1968+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon17:c.1968+2T>G;ENST00000398870:exon16:c.1779+2T>G;ENST00000593098:exon4:c.423+2T>G;ENST00000597477:exon2:c.245+2T>G;ENST00000589056:exon1:c.9+2T>G;ENST00000587402:exon1:c.9+2T>G)	.	.	0.999990764389106	0.944
18	39617787	G	A	18	42037823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.42084325225262E-5	0.146
18	39617787	G	C	18	42037823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.956103936309983	0.654
18	39617787	G	T	18	42037823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.95600816398188	0.67
18	39617788	A	C	18	42037824	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999873068998601	0.95
18	39617788	A	G	18	42037824	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999844988298977	0.99
18	39617788	A	T	18	42037824	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999844988298977	0.95
18	39617789	A	C	18	42037825	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.0239523128075E-4	0.016
18	39617789	A	G	18	42037825	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.1663342476814E-4	0.06
18	39617789	A	T	18	42037825	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00115067465009408	0.044
18	39617790	C	A	18	42037826	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.65596157378234E-4	0.128
18	39617790	C	G	18	42037826	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.32180983757703E-5	0.09
18	39617790	C	T	18	42037826	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.57425113233739E-5	0.0
18	39617791	A	C	18	42037827	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.91250211285635E-4	0.01
18	39617791	A	G	18	42037827	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.91250211285635E-4	0.01
18	39617791	A	T	18	42037827	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.70271989435287E-4	0.044
18	39617792	T	A	18	42037828	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.69449152636141E-4	0.02
18	39617792	T	C	18	42037828	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.47671341202198E-4	0.008
18	39617792	T	G	18	42037828	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.47671341202198E-4	0.008
18	39618733	T	A	18	42038769	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998279039498185	0.902
18	39618733	T	C	18	42038769	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.28140446086915	0.44
18	39618733	T	G	18	42038769	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997018790272087	0.832
18	39618734	T	A	18	42038770	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.993911564676582	0.838
18	39618734	T	C	18	42038770	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.324270341825109	0.486
18	39618734	T	G	18	42038770	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.97920522851498	0.758
18	39618735	T	A	18	42038771	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99997659255313	0.91
18	39618735	T	C	18	42038771	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.07064015927398E-5	0.1
18	39618735	T	G	18	42038771	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.689566700444536	0.656
18	39618736	G	A	18	42038772	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.75123586457296E-5	0.076
18	39618736	G	C	18	42038772	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.19393591540187E-4	0.244
18	39618736	G	T	18	42038772	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.80178666470552E-4	0.262
18	39618737	A	C	18	42038773	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.6468994417297E-5	0.014
18	39618737	A	G	18	42038773	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.05432183199895E-4	0.102
18	39618737	A	T	18	42038773	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.28323663992268E-5	0.014
18	39618738	T	A	18	42038774	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.976813195327498	0.726
18	39618738	T	C	18	42038774	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.99710990498217E-4	0.014
18	39618738	T	G	18	42038774	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999961598073671	0.976
18	39618739	T	A	18	42038775	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.208390587679752	0.5
18	39618739	T	C	18	42038775	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.23070260846762E-4	0.044
18	39618739	T	G	18	42038775	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.394650797288581	0.592
18	39618740	A	C	18	42038776	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.59355144687689E-5	0.048
18	39618740	A	G	18	42038776	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.91749885864186E-4	0.02
18	39618740	A	T	18	42038776	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.3370031597617E-4	0.106
18	39618741	A	C	18	42038777	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.58117410376338E-4	0.024
18	39618741	A	G	18	42038777	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99860098255057	0.968
18	39618741	A	T	18	42038777	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00220025515444693	0.054
18	39618742	A	C	18	42038778	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.40983397188281E-4	0.058
18	39618742	A	G	18	42038778	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.208510339210652	0.29
18	39618742	A	T	18	42038778	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.31634043923521E-5	0.022
18	39618743	A	C	18	42038779	y	y	splicing	PIK3C3(NM_002647:exon18:c.1969-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.1969-2A>C;ENST00000398870:exon17:c.1780-2A>C;ENST00000593098:exon5:c.424-2A>C;ENST00000597477:exon3:c.246-2A>C;ENST00000589056:exon2:c.10-2A>C;ENST00000587402:exon2:c.10-2A>C)	.	.	0.999979394981131	0.914
18	39618743	A	G	18	42038779	y	y	splicing	PIK3C3(NM_002647:exon18:c.1969-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.1969-2A>G;ENST00000398870:exon17:c.1780-2A>G;ENST00000593098:exon5:c.424-2A>G;ENST00000597477:exon3:c.246-2A>G;ENST00000589056:exon2:c.10-2A>G;ENST00000587402:exon2:c.10-2A>G)	.	.	0.999979394981131	0.914
18	39618743	A	T	18	42038779	y	y	splicing	PIK3C3(NM_002647:exon18:c.1969-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.1969-2A>T;ENST00000398870:exon17:c.1780-2A>T;ENST00000593098:exon5:c.424-2A>T;ENST00000597477:exon3:c.246-2A>T;ENST00000589056:exon2:c.10-2A>T;ENST00000587402:exon2:c.10-2A>T)	.	.	0.999979394981131	0.914
18	39618744	G	A	18	42038780	y	y	splicing	PIK3C3(NM_002647:exon18:c.1969-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.1969-1G>A;ENST00000398870:exon17:c.1780-1G>A;ENST00000593098:exon5:c.424-1G>A;ENST00000597477:exon3:c.246-1G>A;ENST00000589056:exon2:c.10-1G>A;ENST00000587402:exon2:c.10-1G>A)	.	.	0.999982627682474	0.908
18	39618744	G	C	18	42038780	y	y	splicing	PIK3C3(NM_002647:exon18:c.1969-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.1969-1G>C;ENST00000398870:exon17:c.1780-1G>C;ENST00000593098:exon5:c.424-1G>C;ENST00000597477:exon3:c.246-1G>C;ENST00000589056:exon2:c.10-1G>C;ENST00000587402:exon2:c.10-1G>C)	.	.	0.999982627682474	0.908
18	39618744	G	T	18	42038780	y	y	splicing	PIK3C3(NM_002647:exon18:c.1969-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.1969-1G>T;ENST00000398870:exon17:c.1780-1G>T;ENST00000593098:exon5:c.424-1G>T;ENST00000597477:exon3:c.246-1G>T;ENST00000589056:exon2:c.10-1G>T;ENST00000587402:exon2:c.10-1G>T)	.	.	0.999982627682474	0.908
18	39618745	C	A	18	42038781	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.C1969A:p.L657M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.C1969A:p.L657M;ENSG00000078142:ENST00000587402:exon2:c.C10A:p.L4M;ENSG00000078142:ENST00000593098:exon5:c.C424A:p.L142M;ENSG00000078142:ENST00000398870:exon17:c.C1780A:p.L594M;ENSG00000078142:ENST00000589056:exon2:c.C10A:p.L4M;	0.0750528787826158	0.542
18	39618745	C	G	18	42038781	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.C1969G:p.L657V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.C1969G:p.L657V;ENSG00000078142:ENST00000587402:exon2:c.C10G:p.L4V;ENSG00000078142:ENST00000593098:exon5:c.C424G:p.L142V;ENSG00000078142:ENST00000398870:exon17:c.C1780G:p.L594V;ENSG00000078142:ENST00000589056:exon2:c.C10G:p.L4V;	0.160818025496806	0.53
18	39618745	C	T	18	42038781	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon18:c.C1969T:p.L657L;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.C1969T:p.L657L;ENSG00000078142:ENST00000587402:exon2:c.C10T:p.L4L;ENSG00000078142:ENST00000593098:exon5:c.C424T:p.L142L;ENSG00000078142:ENST00000398870:exon17:c.C1780T:p.L594L;ENSG00000078142:ENST00000589056:exon2:c.C10T:p.L4L;	0.00593497493719456	0.448
18	39618746	T	A	18	42038782	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.T1970A:p.L657Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.T1970A:p.L657Q;ENSG00000078142:ENST00000587402:exon2:c.T11A:p.L4Q;ENSG00000078142:ENST00000593098:exon5:c.T425A:p.L142Q;ENSG00000078142:ENST00000398870:exon17:c.T1781A:p.L594Q;ENSG00000078142:ENST00000589056:exon2:c.T11A:p.L4Q;	0.85920687010694	0.53
18	39618746	T	C	18	42038782	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.T1970C:p.L657P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.T1970C:p.L657P;ENSG00000078142:ENST00000587402:exon2:c.T11C:p.L4P;ENSG00000078142:ENST00000593098:exon5:c.T425C:p.L142P;ENSG00000078142:ENST00000398870:exon17:c.T1781C:p.L594P;ENSG00000078142:ENST00000589056:exon2:c.T11C:p.L4P;	0.861206617414127	0.546
18	39618746	T	G	18	42038782	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.T1970G:p.L657R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.T1970G:p.L657R;ENSG00000078142:ENST00000587402:exon2:c.T11G:p.L4R;ENSG00000078142:ENST00000593098:exon5:c.T425G:p.L142R;ENSG00000078142:ENST00000398870:exon17:c.T1781G:p.L594R;ENSG00000078142:ENST00000589056:exon2:c.T11G:p.L4R;	0.890213460742195	0.522
18	39618812	A	C	18	42038848	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.A2036C:p.H679P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.A2036C:p.H679P;ENSG00000078142:ENST00000587402:exon2:c.A77C:p.H26P;ENSG00000078142:ENST00000593098:exon5:c.A491C:p.H164P;ENSG00000078142:ENST00000398870:exon17:c.A1847C:p.H616P;ENSG00000078142:ENST00000589056:exon2:c.A77C:p.H26P;	0.883122925276982	0.742
18	39618812	A	G	18	42038848	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.A2036G:p.H679R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.A2036G:p.H679R;ENSG00000078142:ENST00000587402:exon2:c.A77G:p.H26R;ENSG00000078142:ENST00000593098:exon5:c.A491G:p.H164R;ENSG00000078142:ENST00000398870:exon17:c.A1847G:p.H616R;ENSG00000078142:ENST00000589056:exon2:c.A77G:p.H26R;	0.545695539876327	0.458
18	39618812	A	T	18	42038848	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.A2036T:p.H679L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.A2036T:p.H679L;ENSG00000078142:ENST00000587402:exon2:c.A77T:p.H26L;ENSG00000078142:ENST00000593098:exon5:c.A491T:p.H164L;ENSG00000078142:ENST00000398870:exon17:c.A1847T:p.H616L;ENSG00000078142:ENST00000589056:exon2:c.A77T:p.H26L;	0.981975155640677	0.532
18	39618813	T	A	18	42038849	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.T2037A:p.H679Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.T2037A:p.H679Q;ENSG00000078142:ENST00000587402:exon2:c.T78A:p.H26Q;ENSG00000078142:ENST00000593098:exon5:c.T492A:p.H164Q;ENSG00000078142:ENST00000398870:exon17:c.T1848A:p.H616Q;ENSG00000078142:ENST00000589056:exon2:c.T78A:p.H26Q;	3.77317994229914E-5	0.114
18	39618813	T	C	18	42038849	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon18:c.T2037C:p.H679H;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.T2037C:p.H679H;ENSG00000078142:ENST00000587402:exon2:c.T78C:p.H26H;ENSG00000078142:ENST00000593098:exon5:c.T492C:p.H164H;ENSG00000078142:ENST00000398870:exon17:c.T1848C:p.H616H;ENSG00000078142:ENST00000589056:exon2:c.T78C:p.H26H;	9.35404297812576E-5	0.016
18	39618813	T	G	18	42038849	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.T2037G:p.H679Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.T2037G:p.H679Q;ENSG00000078142:ENST00000587402:exon2:c.T78G:p.H26Q;ENSG00000078142:ENST00000593098:exon5:c.T492G:p.H164Q;ENSG00000078142:ENST00000398870:exon17:c.T1848G:p.H616Q;ENSG00000078142:ENST00000589056:exon2:c.T78G:p.H26Q;	6.04919887972529E-5	0.048
18	39618814	G	A	18	42038850	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.G2038A:p.G680S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.G2038A:p.G680S;ENSG00000078142:ENST00000587402:exon2:c.G79A:p.G27S;ENSG00000078142:ENST00000593098:exon5:c.G493A:p.G165S;ENSG00000078142:ENST00000398870:exon17:c.G1849A:p.G617S;ENSG00000078142:ENST00000589056:exon2:c.G79A:p.G27S;	0.999753620957495	0.868
18	39618814	G	C	18	42038850	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.G2038C:p.G680R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.G2038C:p.G680R;ENSG00000078142:ENST00000587402:exon2:c.G79C:p.G27R;ENSG00000078142:ENST00000593098:exon5:c.G493C:p.G165R;ENSG00000078142:ENST00000398870:exon17:c.G1849C:p.G617R;ENSG00000078142:ENST00000589056:exon2:c.G79C:p.G27R;	0.999917391305263	0.942
18	39618814	G	T	18	42038850	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon18:c.G2038T:p.G680C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon18:c.G2038T:p.G680C;ENSG00000078142:ENST00000587402:exon2:c.G79T:p.G27C;ENSG00000078142:ENST00000593098:exon5:c.G493T:p.G165C;ENSG00000078142:ENST00000398870:exon17:c.G1849T:p.G617C;ENSG00000078142:ENST00000589056:exon2:c.G79T:p.G27C;	0.999864224844899	0.95
18	39618815	G	A	18	42038851	y	y	splicing	PIK3C3(NM_002647:exon18:c.2038+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.2038+1G>A;ENST00000398870:exon17:c.1849+1G>A;ENST00000593098:exon5:c.493+1G>A;ENST00000597477:exon3:c.315+1G>A;ENST00000589056:exon2:c.79+1G>A;ENST00000587402:exon2:c.79+1G>A)	.	.	0.999990361384395	0.938
18	39618815	G	C	18	42038851	y	y	splicing	PIK3C3(NM_002647:exon18:c.2038+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.2038+1G>C;ENST00000398870:exon17:c.1849+1G>C;ENST00000593098:exon5:c.493+1G>C;ENST00000597477:exon3:c.315+1G>C;ENST00000589056:exon2:c.79+1G>C;ENST00000587402:exon2:c.79+1G>C)	.	.	0.999990361384395	0.938
18	39618815	G	T	18	42038851	y	y	splicing	PIK3C3(NM_002647:exon18:c.2038+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.2038+1G>T;ENST00000398870:exon17:c.1849+1G>T;ENST00000593098:exon5:c.493+1G>T;ENST00000597477:exon3:c.315+1G>T;ENST00000589056:exon2:c.79+1G>T;ENST00000587402:exon2:c.79+1G>T)	.	.	0.999990361384395	0.938
18	39618816	T	A	18	42038852	y	y	splicing	PIK3C3(NM_002647:exon18:c.2038+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.2038+2T>A;ENST00000398870:exon17:c.1849+2T>A;ENST00000593098:exon5:c.493+2T>A;ENST00000597477:exon3:c.315+2T>A;ENST00000589056:exon2:c.79+2T>A;ENST00000587402:exon2:c.79+2T>A)	.	.	0.999988247793601	0.93
18	39618816	T	C	18	42038852	y	y	splicing	PIK3C3(NM_002647:exon18:c.2038+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.2038+2T>C;ENST00000398870:exon17:c.1849+2T>C;ENST00000593098:exon5:c.493+2T>C;ENST00000597477:exon3:c.315+2T>C;ENST00000589056:exon2:c.79+2T>C;ENST00000587402:exon2:c.79+2T>C)	.	.	0.996388929962285	0.7
18	39618816	T	G	18	42038852	y	y	splicing	PIK3C3(NM_002647:exon18:c.2038+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon18:c.2038+2T>G;ENST00000398870:exon17:c.1849+2T>G;ENST00000593098:exon5:c.493+2T>G;ENST00000597477:exon3:c.315+2T>G;ENST00000589056:exon2:c.79+2T>G;ENST00000587402:exon2:c.79+2T>G)	.	.	0.999988247793601	0.928
18	39618817	A	C	18	42038853	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.363505785602855	0.296
18	39618817	A	G	18	42038853	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.90785691225488E-4	0.004
18	39618817	A	T	18	42038853	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.160561812976344	0.314
18	39618818	A	C	18	42038854	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0926430001988847	0.338
18	39618818	A	G	18	42038854	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.200397347983844	0.412
18	39618818	A	T	18	42038854	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.357274049898062	0.396
18	39618819	G	A	18	42038855	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999393866767502	0.872
18	39618819	G	C	18	42038855	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999655505236161	0.86
18	39618819	G	T	18	42038855	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999557211977783	0.898
18	39618820	T	A	18	42038856	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00328046303591756	0.21
18	39618820	T	C	18	42038856	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00495833781343228	0.228
18	39618820	T	G	18	42038856	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00114268251063497	0.19
18	39618821	G	A	18	42038857	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.36197223307862E-5	0.0
18	39618821	G	C	18	42038857	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.51290618449768E-5	0.0
18	39618821	G	T	18	42038857	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.36197223307862E-5	0.0
18	39618822	T	A	18	42038858	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.42095014750824E-5	0.004
18	39618822	T	C	18	42038858	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.9635955398612E-5	0.004
18	39618822	T	G	18	42038858	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.57457989060619E-5	0.006
18	39620629	A	C	18	42040665	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.88863356375749E-5	0.004
18	39620629	A	G	18	42040665	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.42496357252293E-5	0.018
18	39620629	A	T	18	42040665	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.88863356375749E-5	0.006
18	39620630	T	A	18	42040666	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.983571172143474	0.756
18	39620630	T	C	18	42040666	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.137800954037564	0.38
18	39620630	T	G	18	42040666	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999975029443643	0.914
18	39620631	T	A	18	42040667	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.974894047136424	0.682
18	39620631	T	C	18	42040667	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.7938481819233E-4	0.116
18	39620631	T	G	18	42040667	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.324079900044072	0.412
18	39620632	T	A	18	42040668	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.991650082890467	0.852
18	39620632	T	C	18	42040668	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00480159594077777	0.16
18	39620632	T	G	18	42040668	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.991675115441057	0.822
18	39620633	C	A	18	42040669	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00343862632101576	0.124
18	39620633	C	G	18	42040669	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.52867188915958E-4	0.06
18	39620633	C	T	18	42040669	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.69574962001759E-5	0.014
18	39620634	T	A	18	42040670	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999956702867306	0.982
18	39620634	T	C	18	42040670	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.001081636612721	0.112
18	39620634	T	G	18	42040670	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0933743653814186	0.216
18	39620635	G	A	18	42040671	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00110207113535331	0.026
18	39620635	G	C	18	42040671	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.70096446910855E-5	0.014
18	39620635	G	T	18	42040671	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.57794544807238E-5	0.058
18	39620636	T	A	18	42040672	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999428462439438	0.936
18	39620636	T	C	18	42040672	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.61979558794788E-4	0.116
18	39620636	T	G	18	42040672	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.501495361372419	0.536
18	39620637	G	A	18	42040673	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00761616357594625	0.05
18	39620637	G	C	18	42040673	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00488756646801963	0.018
18	39620637	G	T	18	42040673	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00869054765563957	0.038
18	39620638	T	A	18	42040674	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.688732134273436	0.462
18	39620638	T	C	18	42040674	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.3402287335925E-4	0.05
18	39620638	T	G	18	42040674	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999269187090904	0.82
18	39620639	A	C	18	42040675	y	y	splicing	PIK3C3(NM_002647:exon19:c.2039-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2039-2A>C;ENST00000398870:exon18:c.1850-2A>C;ENST00000593098:exon6:c.494-2A>C;ENST00000597477:exon4:c.316-2A>C;ENST00000589056:exon3:c.80-2A>C;ENST00000587402:exon3:c.80-2A>C)	.	.	0.999981808176352	0.922
18	39620639	A	G	18	42040675	y	y	splicing	PIK3C3(NM_002647:exon19:c.2039-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2039-2A>G;ENST00000398870:exon18:c.1850-2A>G;ENST00000593098:exon6:c.494-2A>G;ENST00000597477:exon4:c.316-2A>G;ENST00000589056:exon3:c.80-2A>G;ENST00000587402:exon3:c.80-2A>G)	.	.	0.999981808176352	0.922
18	39620639	A	T	18	42040675	y	y	splicing	PIK3C3(NM_002647:exon19:c.2039-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2039-2A>T;ENST00000398870:exon18:c.1850-2A>T;ENST00000593098:exon6:c.494-2A>T;ENST00000597477:exon4:c.316-2A>T;ENST00000589056:exon3:c.80-2A>T;ENST00000587402:exon3:c.80-2A>T)	.	.	0.999981808176352	0.922
18	39620640	G	A	18	42040676	y	y	splicing	PIK3C3(NM_002647:exon19:c.2039-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2039-1G>A;ENST00000398870:exon18:c.1850-1G>A;ENST00000593098:exon6:c.494-1G>A;ENST00000597477:exon4:c.316-1G>A;ENST00000589056:exon3:c.80-1G>A;ENST00000587402:exon3:c.80-1G>A)	.	.	0.999993148181228	0.94
18	39620640	G	C	18	42040676	y	y	splicing	PIK3C3(NM_002647:exon19:c.2039-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2039-1G>C;ENST00000398870:exon18:c.1850-1G>C;ENST00000593098:exon6:c.494-1G>C;ENST00000597477:exon4:c.316-1G>C;ENST00000589056:exon3:c.80-1G>C;ENST00000587402:exon3:c.80-1G>C)	.	.	0.999993148181228	0.94
18	39620640	G	T	18	42040676	y	y	splicing	PIK3C3(NM_002647:exon19:c.2039-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2039-1G>T;ENST00000398870:exon18:c.1850-1G>T;ENST00000593098:exon6:c.494-1G>T;ENST00000597477:exon4:c.316-1G>T;ENST00000589056:exon3:c.80-1G>T;ENST00000587402:exon3:c.80-1G>T)	.	.	0.999993148181228	0.94
18	39620641	G	A	18	42040677	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.G2039A:p.G680D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.G2039A:p.G680D;ENSG00000078142:ENST00000587402:exon3:c.G80A:p.G27D;ENSG00000078142:ENST00000593098:exon6:c.G494A:p.G165D;ENSG00000078142:ENST00000398870:exon18:c.G1850A:p.G617D;ENSG00000078142:ENST00000589056:exon3:c.G80A:p.G27D;	0.999824152183778	0.956
18	39620641	G	C	18	42040677	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.G2039C:p.G680A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.G2039C:p.G680A;ENSG00000078142:ENST00000587402:exon3:c.G80C:p.G27A;ENSG00000078142:ENST00000593098:exon6:c.G494C:p.G165A;ENSG00000078142:ENST00000398870:exon18:c.G1850C:p.G617A;ENSG00000078142:ENST00000589056:exon3:c.G80C:p.G27A;	0.999823930542343	0.984
18	39620641	G	T	18	42040677	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.G2039T:p.G680V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.G2039T:p.G680V;ENSG00000078142:ENST00000587402:exon3:c.G80T:p.G27V;ENSG00000078142:ENST00000593098:exon6:c.G494T:p.G165V;ENSG00000078142:ENST00000398870:exon18:c.G1850T:p.G617V;ENSG00000078142:ENST00000589056:exon3:c.G80T:p.G27V;	0.999942454151975	0.996
18	39620642	C	A	18	42040678	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon19:c.C2040A:p.G680G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.C2040A:p.G680G;ENSG00000078142:ENST00000587402:exon3:c.C81A:p.G27G;ENSG00000078142:ENST00000593098:exon6:c.C495A:p.G165G;ENSG00000078142:ENST00000398870:exon18:c.C1851A:p.G617G;ENSG00000078142:ENST00000589056:exon3:c.C81A:p.G27G;	3.98370658436365E-4	0.004
18	39620642	C	G	18	42040678	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon19:c.C2040G:p.G680G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.C2040G:p.G680G;ENSG00000078142:ENST00000587402:exon3:c.C81G:p.G27G;ENSG00000078142:ENST00000593098:exon6:c.C495G:p.G165G;ENSG00000078142:ENST00000398870:exon18:c.C1851G:p.G617G;ENSG00000078142:ENST00000589056:exon3:c.C81G:p.G27G;	1.75028529012031E-4	0.004
18	39620642	C	T	18	42040678	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon19:c.C2040T:p.G680G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.C2040T:p.G680G;ENSG00000078142:ENST00000587402:exon3:c.C81T:p.G27G;ENSG00000078142:ENST00000593098:exon6:c.C495T:p.G165G;ENSG00000078142:ENST00000398870:exon18:c.C1851T:p.G617G;ENSG00000078142:ENST00000589056:exon3:c.C81T:p.G27G;	1.32977227249622E-5	0.002
18	39620703	C	A	18	42040739	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.C2101A:p.Q701K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.C2101A:p.Q701K;ENSG00000078142:ENST00000587402:exon3:c.C142A:p.Q48K;ENSG00000078142:ENST00000593098:exon6:c.C556A:p.Q186K;ENSG00000078142:ENST00000398870:exon18:c.C1912A:p.Q638K;ENSG00000078142:ENST00000589056:exon3:c.C142A:p.Q48K;	0.946055115567784	0.772
18	39620703	C	G	18	42040739	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.C2101G:p.Q701E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.C2101G:p.Q701E;ENSG00000078142:ENST00000587402:exon3:c.C142G:p.Q48E;ENSG00000078142:ENST00000593098:exon6:c.C556G:p.Q186E;ENSG00000078142:ENST00000398870:exon18:c.C1912G:p.Q638E;ENSG00000078142:ENST00000589056:exon3:c.C142G:p.Q48E;	0.926172306059994	0.644
18	39620703	C	T	18	42040739	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon19:c.C2101T:p.Q701X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon19:c.C2101T:p.Q701X;ENSG00000078142:ENST00000587402:exon3:c.C142T:p.Q48X;ENSG00000078142:ENST00000593098:exon6:c.C556T:p.Q186X;ENSG00000078142:ENST00000398870:exon18:c.C1912T:p.Q638X;ENSG00000078142:ENST00000589056:exon3:c.C142T:p.Q48X;	0.999377871257514	0.956
18	39620704	A	C	18	42040740	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.A2102C:p.Q701P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.A2102C:p.Q701P;ENSG00000078142:ENST00000587402:exon3:c.A143C:p.Q48P;ENSG00000078142:ENST00000593098:exon6:c.A557C:p.Q186P;ENSG00000078142:ENST00000398870:exon18:c.A1913C:p.Q638P;ENSG00000078142:ENST00000589056:exon3:c.A143C:p.Q48P;	0.999278357261287	0.976
18	39620704	A	G	18	42040740	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.A2102G:p.Q701R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.A2102G:p.Q701R;ENSG00000078142:ENST00000587402:exon3:c.A143G:p.Q48R;ENSG00000078142:ENST00000593098:exon6:c.A557G:p.Q186R;ENSG00000078142:ENST00000398870:exon18:c.A1913G:p.Q638R;ENSG00000078142:ENST00000589056:exon3:c.A143G:p.Q48R;	0.999684072009837	0.958
18	39620704	A	T	18	42040740	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.A2102T:p.Q701L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.A2102T:p.Q701L;ENSG00000078142:ENST00000587402:exon3:c.A143T:p.Q48L;ENSG00000078142:ENST00000593098:exon6:c.A557T:p.Q186L;ENSG00000078142:ENST00000398870:exon18:c.A1913T:p.Q638L;ENSG00000078142:ENST00000589056:exon3:c.A143T:p.Q48L;	0.892097928745599	0.638
18	39620705	G	A	18	42040741	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon19:c.G2103A:p.Q701Q;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.G2103A:p.Q701Q;ENSG00000078142:ENST00000587402:exon3:c.G144A:p.Q48Q;ENSG00000078142:ENST00000593098:exon6:c.G558A:p.Q186Q;ENSG00000078142:ENST00000398870:exon18:c.G1914A:p.Q638Q;ENSG00000078142:ENST00000589056:exon3:c.G144A:p.Q48Q;	0.999949641472771	0.996
18	39620705	G	C	18	42040741	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.G2103C:p.Q701H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.G2103C:p.Q701H;ENSG00000078142:ENST00000587402:exon3:c.G144C:p.Q48H;ENSG00000078142:ENST00000593098:exon6:c.G558C:p.Q186H;ENSG00000078142:ENST00000398870:exon18:c.G1914C:p.Q638H;ENSG00000078142:ENST00000589056:exon3:c.G144C:p.Q48H;	0.999995466990599	0.998
18	39620705	G	T	18	42040741	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon19:c.G2103T:p.Q701H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon19:c.G2103T:p.Q701H;ENSG00000078142:ENST00000587402:exon3:c.G144T:p.Q48H;ENSG00000078142:ENST00000593098:exon6:c.G558T:p.Q186H;ENSG00000078142:ENST00000398870:exon18:c.G1914T:p.Q638H;ENSG00000078142:ENST00000589056:exon3:c.G144T:p.Q48H;	0.999935826924905	0.986
18	39620706	G	A	18	42040742	y	y	splicing	PIK3C3(NM_002647:exon19:c.2103+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2103+1G>A;ENST00000398870:exon18:c.1914+1G>A;ENST00000593098:exon6:c.558+1G>A;ENST00000597477:exon4:c.380+1G>A;ENST00000589056:exon3:c.144+1G>A;ENST00000587402:exon3:c.144+1G>A)	.	.	0.999989072007339	0.934
18	39620706	G	C	18	42040742	y	y	splicing	PIK3C3(NM_002647:exon19:c.2103+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2103+1G>C;ENST00000398870:exon18:c.1914+1G>C;ENST00000593098:exon6:c.558+1G>C;ENST00000597477:exon4:c.380+1G>C;ENST00000589056:exon3:c.144+1G>C;ENST00000587402:exon3:c.144+1G>C)	.	.	0.999989072007339	0.934
18	39620706	G	T	18	42040742	y	y	splicing	PIK3C3(NM_002647:exon19:c.2103+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2103+1G>T;ENST00000398870:exon18:c.1914+1G>T;ENST00000593098:exon6:c.558+1G>T;ENST00000597477:exon4:c.380+1G>T;ENST00000589056:exon3:c.144+1G>T;ENST00000587402:exon3:c.144+1G>T)	.	.	0.999989072007339	0.934
18	39620707	T	A	18	42040743	y	y	splicing	PIK3C3(NM_002647:exon19:c.2103+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2103+2T>A;ENST00000398870:exon18:c.1914+2T>A;ENST00000593098:exon6:c.558+2T>A;ENST00000597477:exon4:c.380+2T>A;ENST00000589056:exon3:c.144+2T>A;ENST00000587402:exon3:c.144+2T>A)	.	.	0.999988247793601	0.93
18	39620707	T	C	18	42040743	y	y	splicing	PIK3C3(NM_002647:exon19:c.2103+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2103+2T>C;ENST00000398870:exon18:c.1914+2T>C;ENST00000593098:exon6:c.558+2T>C;ENST00000597477:exon4:c.380+2T>C;ENST00000589056:exon3:c.144+2T>C;ENST00000587402:exon3:c.144+2T>C)	.	.	0.992054276455321	0.652
18	39620707	T	G	18	42040743	y	y	splicing	PIK3C3(NM_002647:exon19:c.2103+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon19:c.2103+2T>G;ENST00000398870:exon18:c.1914+2T>G;ENST00000593098:exon6:c.558+2T>G;ENST00000597477:exon4:c.380+2T>G;ENST00000589056:exon3:c.144+2T>G;ENST00000587402:exon3:c.144+2T>G)	.	.	0.999988247793601	0.93
18	39620708	A	C	18	42040744	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998638048914784	0.72
18	39620708	A	G	18	42040744	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.945253861393402	0.682
18	39620708	A	T	18	42040744	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.996790968029875	0.74
18	39620709	T	A	18	42040745	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.94974650277597E-5	0.022
18	39620709	T	C	18	42040745	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.95309727154033E-5	0.0
18	39620709	T	G	18	42040745	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.76632372561286E-5	0.0
18	39620710	G	A	18	42040746	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.194451919008194	0.41
18	39620710	G	C	18	42040746	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.168512671731374	0.452
18	39620710	G	T	18	42040746	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.223685413719469	0.366
18	39620711	G	A	18	42040747	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.07666878349075E-4	0.004
18	39620711	G	C	18	42040747	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.35371066436245E-4	0.004
18	39620711	G	T	18	42040747	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.34888665060902E-4	0.0
18	39620712	T	A	18	42040748	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.3973947228424E-5	0.0
18	39620712	T	C	18	42040748	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.3973947228424E-5	0.0
18	39620712	T	G	18	42040748	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.21313459388182E-5	0.0
18	39620713	A	C	18	42040749	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.81474896170976E-5	0.0
18	39620713	A	G	18	42040749	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.87544548170259E-5	0.0
18	39620713	A	T	18	42040749	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.81474896170976E-5	0.0
18	39623685	A	C	18	42043721	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.12937425009001E-4	0.002
18	39623685	A	G	18	42043721	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.995656017656579	0.96
18	39623685	A	T	18	42043721	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.03040080698512E-4	0.044
18	39623686	T	A	18	42043722	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999962842336771	0.984
18	39623686	T	C	18	42043722	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.380782324962173	0.324
18	39623686	T	G	18	42043722	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999952165280784	0.982
18	39623687	G	A	18	42043723	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00252929874760424	0.214
18	39623687	G	C	18	42043723	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.83202508936421E-5	0.008
18	39623687	G	T	18	42043723	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.39839283399344E-5	0.098
18	39623688	T	A	18	42043724	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.949595175531549	0.846
18	39623688	T	C	18	42043724	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0340457857446942	0.086
18	39623688	T	G	18	42043724	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.847703193398332	0.812
18	39623689	C	A	18	42043725	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00135892551252638	0.05
18	39623689	C	G	18	42043725	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.58396452936243E-4	0.044
18	39623689	C	T	18	42043725	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.45928947213691E-5	0.002
18	39623690	T	A	18	42043726	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0933884350224936	0.228
18	39623690	T	C	18	42043726	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.05313870176744E-4	0.018
18	39623690	T	G	18	42043726	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00239122753271567	0.11
18	39623691	T	A	18	42043727	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.442338683259641	0.51
18	39623691	T	C	18	42043727	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.27160514393778E-4	0.026
18	39623691	T	G	18	42043727	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.696744087785296	0.564
18	39623692	T	A	18	42043728	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.855843645085895	0.556
18	39623692	T	C	18	42043728	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0164957967150046	0.214
18	39623692	T	G	18	42043728	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.967913879131837	0.616
18	39623693	T	A	18	42043729	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.54009174741362E-4	0.016
18	39623693	T	C	18	42043729	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.72301108309742E-4	0.086
18	39623693	T	G	18	42043729	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.05059497869717E-4	0.11
18	39623694	C	A	18	42043730	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999235890929612	0.84
18	39623694	C	G	18	42043730	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999909725413949	0.886
18	39623694	C	T	18	42043730	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.175654847736155	0.098
18	39623695	A	C	18	42043731	y	y	splicing	PIK3C3(NM_002647:exon20:c.2104-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2104-2A>C;ENST00000398870:exon19:c.1915-2A>C;ENST00000593098:exon7:c.559-2A>C;ENST00000597477:exon5:c.381-2A>C;ENST00000589056:exon4:c.145-2A>C;ENST00000587402:exon4:c.145-2A>C)	.	.	0.999986741007567	0.944
18	39623695	A	G	18	42043731	y	y	splicing	PIK3C3(NM_002647:exon20:c.2104-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2104-2A>G;ENST00000398870:exon19:c.1915-2A>G;ENST00000593098:exon7:c.559-2A>G;ENST00000597477:exon5:c.381-2A>G;ENST00000589056:exon4:c.145-2A>G;ENST00000587402:exon4:c.145-2A>G)	.	.	0.999986741007567	0.944
18	39623695	A	T	18	42043731	y	y	splicing	PIK3C3(NM_002647:exon20:c.2104-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2104-2A>T;ENST00000398870:exon19:c.1915-2A>T;ENST00000593098:exon7:c.559-2A>T;ENST00000597477:exon5:c.381-2A>T;ENST00000589056:exon4:c.145-2A>T;ENST00000587402:exon4:c.145-2A>T)	.	.	0.999986741007567	0.944
18	39623696	G	A	18	42043732	y	y	splicing	PIK3C3(NM_002647:exon20:c.2104-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2104-1G>A;ENST00000398870:exon19:c.1915-1G>A;ENST00000593098:exon7:c.559-1G>A;ENST00000597477:exon5:c.381-1G>A;ENST00000589056:exon4:c.145-1G>A;ENST00000587402:exon4:c.145-1G>A)	.	.	0.999983677848485	0.942
18	39623696	G	C	18	42043732	y	y	splicing	PIK3C3(NM_002647:exon20:c.2104-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2104-1G>C;ENST00000398870:exon19:c.1915-1G>C;ENST00000593098:exon7:c.559-1G>C;ENST00000597477:exon5:c.381-1G>C;ENST00000589056:exon4:c.145-1G>C;ENST00000587402:exon4:c.145-1G>C)	.	.	0.999983677848485	0.942
18	39623696	G	T	18	42043732	y	y	splicing	PIK3C3(NM_002647:exon20:c.2104-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2104-1G>T;ENST00000398870:exon19:c.1915-1G>T;ENST00000593098:exon7:c.559-1G>T;ENST00000597477:exon5:c.381-1G>T;ENST00000589056:exon4:c.145-1G>T;ENST00000587402:exon4:c.145-1G>T)	.	.	0.999983677848485	0.942
18	39623697	A	C	18	42043733	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.A2104C:p.N702H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.A2104C:p.N702H;ENSG00000078142:ENST00000587402:exon4:c.A145C:p.N49H;ENSG00000078142:ENST00000593098:exon7:c.A559C:p.N187H;ENSG00000078142:ENST00000398870:exon19:c.A1915C:p.N639H;ENSG00000078142:ENST00000589056:exon4:c.A145C:p.N49H;	0.928762693590175	0.642
18	39623697	A	G	18	42043733	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.A2104G:p.N702D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.A2104G:p.N702D;ENSG00000078142:ENST00000587402:exon4:c.A145G:p.N49D;ENSG00000078142:ENST00000593098:exon7:c.A559G:p.N187D;ENSG00000078142:ENST00000398870:exon19:c.A1915G:p.N639D;ENSG00000078142:ENST00000589056:exon4:c.A145G:p.N49D;	0.548410633231524	0.466
18	39623697	A	T	18	42043733	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.A2104T:p.N702Y;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.A2104T:p.N702Y;ENSG00000078142:ENST00000587402:exon4:c.A145T:p.N49Y;ENSG00000078142:ENST00000593098:exon7:c.A559T:p.N187Y;ENSG00000078142:ENST00000398870:exon19:c.A1915T:p.N639Y;ENSG00000078142:ENST00000589056:exon4:c.A145T:p.N49Y;	0.95261604400374	0.62
18	39623698	A	C	18	42043734	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.A2105C:p.N702T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.A2105C:p.N702T;ENSG00000078142:ENST00000587402:exon4:c.A146C:p.N49T;ENSG00000078142:ENST00000593098:exon7:c.A560C:p.N187T;ENSG00000078142:ENST00000398870:exon19:c.A1916C:p.N639T;ENSG00000078142:ENST00000589056:exon4:c.A146C:p.N49T;	0.427805060973515	0.542
18	39623698	A	G	18	42043734	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.A2105G:p.N702S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.A2105G:p.N702S;ENSG00000078142:ENST00000587402:exon4:c.A146G:p.N49S;ENSG00000078142:ENST00000593098:exon7:c.A560G:p.N187S;ENSG00000078142:ENST00000398870:exon19:c.A1916G:p.N639S;ENSG00000078142:ENST00000589056:exon4:c.A146G:p.N49S;	0.122151358561191	0.342
18	39623698	A	T	18	42043734	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.A2105T:p.N702I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.A2105T:p.N702I;ENSG00000078142:ENST00000587402:exon4:c.A146T:p.N49I;ENSG00000078142:ENST00000593098:exon7:c.A560T:p.N187I;ENSG00000078142:ENST00000398870:exon19:c.A1916T:p.N639I;ENSG00000078142:ENST00000589056:exon4:c.A146T:p.N49I;	0.81351792605172	0.764
18	39623779	G	A	18	42043815	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.G2186A:p.C729Y;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.G2186A:p.C729Y;ENSG00000078142:ENST00000587402:exon4:c.G227A:p.C76Y;ENSG00000078142:ENST00000593098:exon7:c.G641A:p.C214Y;ENSG00000078142:ENST00000398870:exon19:c.G1997A:p.C666Y;ENSG00000078142:ENST00000589056:exon4:c.G227A:p.C76Y;	0.930393484225735	0.804
18	39623779	G	C	18	42043815	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.G2186C:p.C729S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.G2186C:p.C729S;ENSG00000078142:ENST00000587402:exon4:c.G227C:p.C76S;ENSG00000078142:ENST00000593098:exon7:c.G641C:p.C214S;ENSG00000078142:ENST00000398870:exon19:c.G1997C:p.C666S;ENSG00000078142:ENST00000589056:exon4:c.G227C:p.C76S;	0.934018675173057	0.782
18	39623779	G	T	18	42043815	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.G2186T:p.C729F;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.G2186T:p.C729F;ENSG00000078142:ENST00000587402:exon4:c.G227T:p.C76F;ENSG00000078142:ENST00000593098:exon7:c.G641T:p.C214F;ENSG00000078142:ENST00000398870:exon19:c.G1997T:p.C666F;ENSG00000078142:ENST00000589056:exon4:c.G227T:p.C76F;	0.969509945188035	0.874
18	39623780	T	A	18	42043816	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon20:c.T2187A:p.C729X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000262039:exon20:c.T2187A:p.C729X;ENSG00000078142:ENST00000587402:exon4:c.T228A:p.C76X;ENSG00000078142:ENST00000593098:exon7:c.T642A:p.C214X;ENSG00000078142:ENST00000398870:exon19:c.T1998A:p.C666X;ENSG00000078142:ENST00000589056:exon4:c.T228A:p.C76X;	7.76462902692779E-4	0.46
18	39623780	T	C	18	42043816	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon20:c.T2187C:p.C729C;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.T2187C:p.C729C;ENSG00000078142:ENST00000587402:exon4:c.T228C:p.C76C;ENSG00000078142:ENST00000593098:exon7:c.T642C:p.C214C;ENSG00000078142:ENST00000398870:exon19:c.T1998C:p.C666C;ENSG00000078142:ENST00000589056:exon4:c.T228C:p.C76C;	7.99149199236396E-4	0.008
18	39623780	T	G	18	42043816	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.T2187G:p.C729W;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.T2187G:p.C729W;ENSG00000078142:ENST00000587402:exon4:c.T228G:p.C76W;ENSG00000078142:ENST00000593098:exon7:c.T642G:p.C214W;ENSG00000078142:ENST00000398870:exon19:c.T1998G:p.C666W;ENSG00000078142:ENST00000589056:exon4:c.T228G:p.C76W;	0.00525203902930417	0.196
18	39623781	G	A	18	42043817	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.G2188A:p.A730T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.G2188A:p.A730T;ENSG00000078142:ENST00000587402:exon4:c.G229A:p.A77T;ENSG00000078142:ENST00000593098:exon7:c.G643A:p.A215T;ENSG00000078142:ENST00000398870:exon19:c.G1999A:p.A667T;ENSG00000078142:ENST00000589056:exon4:c.G229A:p.A77T;	0.999925847738019	0.97
18	39623781	G	C	18	42043817	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.G2188C:p.A730P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.G2188C:p.A730P;ENSG00000078142:ENST00000587402:exon4:c.G229C:p.A77P;ENSG00000078142:ENST00000593098:exon7:c.G643C:p.A215P;ENSG00000078142:ENST00000398870:exon19:c.G1999C:p.A667P;ENSG00000078142:ENST00000589056:exon4:c.G229C:p.A77P;	0.99984491856881	0.976
18	39623781	G	T	18	42043817	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon20:c.G2188T:p.A730S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon20:c.G2188T:p.A730S;ENSG00000078142:ENST00000587402:exon4:c.G229T:p.A77S;ENSG00000078142:ENST00000593098:exon7:c.G643T:p.A215S;ENSG00000078142:ENST00000398870:exon19:c.G1999T:p.A667S;ENSG00000078142:ENST00000589056:exon4:c.G229T:p.A77S;	0.999669493315903	0.982
18	39623782	G	A	18	42043818	y	y	splicing	PIK3C3(NM_002647:exon20:c.2188+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2188+1G>A;ENST00000398870:exon19:c.1999+1G>A;ENST00000593098:exon7:c.643+1G>A;ENST00000597477:exon5:c.465+1G>A;ENST00000589056:exon4:c.229+1G>A;ENST00000587402:exon4:c.229+1G>A)	.	.	0.999985532734767	0.936
18	39623782	G	C	18	42043818	y	y	splicing	PIK3C3(NM_002647:exon20:c.2188+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2188+1G>C;ENST00000398870:exon19:c.1999+1G>C;ENST00000593098:exon7:c.643+1G>C;ENST00000597477:exon5:c.465+1G>C;ENST00000589056:exon4:c.229+1G>C;ENST00000587402:exon4:c.229+1G>C)	.	.	0.999985532734767	0.936
18	39623782	G	T	18	42043818	y	y	splicing	PIK3C3(NM_002647:exon20:c.2188+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2188+1G>T;ENST00000398870:exon19:c.1999+1G>T;ENST00000593098:exon7:c.643+1G>T;ENST00000597477:exon5:c.465+1G>T;ENST00000589056:exon4:c.229+1G>T;ENST00000587402:exon4:c.229+1G>T)	.	.	0.999985532734767	0.936
18	39623783	T	A	18	42043819	y	y	splicing	PIK3C3(NM_002647:exon20:c.2188+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2188+2T>A;ENST00000398870:exon19:c.1999+2T>A;ENST00000593098:exon7:c.643+2T>A;ENST00000597477:exon5:c.465+2T>A;ENST00000589056:exon4:c.229+2T>A;ENST00000587402:exon4:c.229+2T>A)	.	.	0.999988247793601	0.928
18	39623783	T	C	18	42043819	y	y	splicing	PIK3C3(NM_002647:exon20:c.2188+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2188+2T>C;ENST00000398870:exon19:c.1999+2T>C;ENST00000593098:exon7:c.643+2T>C;ENST00000597477:exon5:c.465+2T>C;ENST00000589056:exon4:c.229+2T>C;ENST00000587402:exon4:c.229+2T>C)	.	.	0.99340600729494	0.67
18	39623783	T	G	18	42043819	y	y	splicing	PIK3C3(NM_002647:exon20:c.2188+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon20:c.2188+2T>G;ENST00000398870:exon19:c.1999+2T>G;ENST00000593098:exon7:c.643+2T>G;ENST00000597477:exon5:c.465+2T>G;ENST00000589056:exon4:c.229+2T>G;ENST00000587402:exon4:c.229+2T>G)	.	.	0.999988247793601	0.928
18	39623784	A	C	18	42043820	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.962011306497662	0.758
18	39623784	A	G	18	42043820	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00580837213067769	0.258
18	39623784	A	T	18	42043820	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.982535810410337	0.774
18	39623785	A	C	18	42043821	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.550056278624144	0.344
18	39623785	A	G	18	42043821	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.913314018108647	0.654
18	39623785	A	T	18	42043821	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.646847472993277	0.542
18	39623786	G	A	18	42043822	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999728327129566	0.972
18	39623786	G	C	18	42043822	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998468769958761	0.926
18	39623786	G	T	18	42043822	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.99948038889701	0.878
18	39623787	T	A	18	42043823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.432254913816026	0.468
18	39623787	T	C	18	42043823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.144665518605523	0.462
18	39623787	T	G	18	42043823	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.198832049103276	0.398
18	39623788	T	A	18	42043824	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.46425991095372E-5	0.0
18	39623788	T	C	18	42043824	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.46425991095372E-5	0.0
18	39623788	T	G	18	42043824	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.46425991095372E-5	0.0
18	39623789	T	A	18	42043825	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.55533203735188E-5	0.0
18	39623789	T	C	18	42043825	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.9469183429777E-5	0.0
18	39623789	T	G	18	42043825	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.8303123726458E-5	0.0
18	39629483	C	A	18	42049519	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.71015318673507E-4	0.152
18	39629483	C	G	18	42049519	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999834578424722	0.968
18	39629483	C	T	18	42049519	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.52598131263412E-5	0.02
18	39629484	T	A	18	42049520	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999972957927435	0.984
18	39629484	T	C	18	42049520	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.198760964280194	0.372
18	39629484	T	G	18	42049520	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.975494278816947	0.886
18	39629485	G	A	18	42049521	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.80465202909377E-4	0.066
18	39629485	G	C	18	42049521	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.80057155319394E-4	0.082
18	39629485	G	T	18	42049521	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.69227488686644E-4	0.088
18	39629486	T	A	18	42049522	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.600476343708647	0.632
18	39629486	T	C	18	42049522	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00484264645251074	0.066
18	39629486	T	G	18	42049522	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.460088836244013	0.734
18	39629487	T	A	18	42049523	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0146393275901944	0.264
18	39629487	T	C	18	42049523	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.66317201313437E-5	0.018
18	39629487	T	G	18	42049523	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0026547535347404	0.288
18	39629488	A	C	18	42049524	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.28810895714173E-4	0.036
18	39629488	A	G	18	42049524	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.45891593991748E-4	0.034
18	39629488	A	T	18	42049524	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.39160799625643E-4	0.032
18	39629489	C	A	18	42049525	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00112771798951711	0.136
18	39629489	C	G	18	42049525	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997087361058489	0.784
18	39629489	C	T	18	42049525	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.25813053537716E-5	0.0
18	39629490	T	A	18	42049526	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999935508126704	0.948
18	39629490	T	C	18	42049526	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0136652870662631	0.178
18	39629490	T	G	18	42049526	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.950570289974254	0.81
18	39629491	G	A	18	42049527	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.82141132582425E-4	0.092
18	39629491	G	C	18	42049527	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.99858551401169E-4	0.038
18	39629491	G	T	18	42049527	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00159671570415813	0.108
18	39629492	C	A	18	42049528	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.994216284802917	0.884
18	39629492	C	G	18	42049528	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999968614440377	0.98
18	39629492	C	T	18	42049528	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00475323849089254	0.168
18	39629493	A	C	18	42049529	y	y	splicing	PIK3C3(NM_002647:exon21:c.2189-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon21:c.2189-2A>C;ENST00000398870:exon20:c.2000-2A>C;ENST00000593098:exon8:c.644-2A>C;ENST00000597477:exon6:c.466-2A>C;ENST00000589056:exon5:c.230-2A>C;ENST00000587402:exon5:c.230-2A>C)	.	.	0.999986741007567	0.944
18	39629493	A	G	18	42049529	y	y	splicing	PIK3C3(NM_002647:exon21:c.2189-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon21:c.2189-2A>G;ENST00000398870:exon20:c.2000-2A>G;ENST00000593098:exon8:c.644-2A>G;ENST00000597477:exon6:c.466-2A>G;ENST00000589056:exon5:c.230-2A>G;ENST00000587402:exon5:c.230-2A>G)	.	.	0.999986741007567	0.944
18	39629493	A	T	18	42049529	y	y	splicing	PIK3C3(NM_002647:exon21:c.2189-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon21:c.2189-2A>T;ENST00000398870:exon20:c.2000-2A>T;ENST00000593098:exon8:c.644-2A>T;ENST00000597477:exon6:c.466-2A>T;ENST00000589056:exon5:c.230-2A>T;ENST00000587402:exon5:c.230-2A>T)	.	.	0.999986741007567	0.944
18	39629494	G	A	18	42049530	y	y	splicing	PIK3C3(NM_002647:exon21:c.2189-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon21:c.2189-1G>A;ENST00000398870:exon20:c.2000-1G>A;ENST00000593098:exon8:c.644-1G>A;ENST00000597477:exon6:c.466-1G>A;ENST00000589056:exon5:c.230-1G>A;ENST00000587402:exon5:c.230-1G>A)	.	.	0.999989125585301	0.944
18	39629494	G	C	18	42049530	y	y	splicing	PIK3C3(NM_002647:exon21:c.2189-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon21:c.2189-1G>C;ENST00000398870:exon20:c.2000-1G>C;ENST00000593098:exon8:c.644-1G>C;ENST00000597477:exon6:c.466-1G>C;ENST00000589056:exon5:c.230-1G>C;ENST00000587402:exon5:c.230-1G>C)	.	.	0.999989125585301	0.944
18	39629494	G	T	18	42049530	y	y	splicing	PIK3C3(NM_002647:exon21:c.2189-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon21:c.2189-1G>T;ENST00000398870:exon20:c.2000-1G>T;ENST00000593098:exon8:c.644-1G>T;ENST00000597477:exon6:c.466-1G>T;ENST00000589056:exon5:c.230-1G>T;ENST00000587402:exon5:c.230-1G>T)	.	.	0.999989125585301	0.944
18	39629495	C	A	18	42049531	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.C2189A:p.A730D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.C2189A:p.A730D;ENSG00000078142:ENST00000587402:exon5:c.C230A:p.A77D;ENSG00000078142:ENST00000593098:exon8:c.C644A:p.A215D;ENSG00000078142:ENST00000398870:exon20:c.C2000A:p.A667D;ENSG00000078142:ENST00000589056:exon5:c.C230A:p.A77D;	0.957330060285423	0.764
18	39629495	C	G	18	42049531	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.C2189G:p.A730G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.C2189G:p.A730G;ENSG00000078142:ENST00000587402:exon5:c.C230G:p.A77G;ENSG00000078142:ENST00000593098:exon8:c.C644G:p.A215G;ENSG00000078142:ENST00000398870:exon20:c.C2000G:p.A667G;ENSG00000078142:ENST00000589056:exon5:c.C230G:p.A77G;	0.97441007097404	0.762
18	39629495	C	T	18	42049531	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.C2189T:p.A730V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.C2189T:p.A730V;ENSG00000078142:ENST00000587402:exon5:c.C230T:p.A77V;ENSG00000078142:ENST00000593098:exon8:c.C644T:p.A215V;ENSG00000078142:ENST00000398870:exon20:c.C2000T:p.A667V;ENSG00000078142:ENST00000589056:exon5:c.C230T:p.A77V;	0.993372299385247	0.934
18	39629496	T	A	18	42049532	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon21:c.T2190A:p.A730A;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.T2190A:p.A730A;ENSG00000078142:ENST00000587402:exon5:c.T231A:p.A77A;ENSG00000078142:ENST00000593098:exon8:c.T645A:p.A215A;ENSG00000078142:ENST00000398870:exon20:c.T2001A:p.A667A;ENSG00000078142:ENST00000589056:exon5:c.T231A:p.A77A;	0.582761847287008	0.504
18	39629496	T	C	18	42049532	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon21:c.T2190C:p.A730A;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.T2190C:p.A730A;ENSG00000078142:ENST00000587402:exon5:c.T231C:p.A77A;ENSG00000078142:ENST00000593098:exon8:c.T645C:p.A215A;ENSG00000078142:ENST00000398870:exon20:c.T2001C:p.A667A;ENSG00000078142:ENST00000589056:exon5:c.T231C:p.A77A;	0.627447217250494	0.374
18	39629496	T	G	18	42049532	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon21:c.T2190G:p.A730A;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.T2190G:p.A730A;ENSG00000078142:ENST00000587402:exon5:c.T231G:p.A77A;ENSG00000078142:ENST00000593098:exon8:c.T645G:p.A215A;ENSG00000078142:ENST00000398870:exon20:c.T2001G:p.A667A;ENSG00000078142:ENST00000589056:exon5:c.T231G:p.A77A;	0.592572804257795	0.366
18	39629567	C	A	18	42049603	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.C2261A:p.T754K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.C2261A:p.T754K;ENSG00000078142:ENST00000587402:exon5:c.C302A:p.T101K;ENSG00000078142:ENST00000593098:exon8:c.C716A:p.T239K;ENSG00000078142:ENST00000398870:exon20:c.C2072A:p.T691K;ENSG00000078142:ENST00000589056:exon5:c.C302A:p.T101K;	0.959243728182234	0.722
18	39629567	C	G	18	42049603	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.C2261G:p.T754R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.C2261G:p.T754R;ENSG00000078142:ENST00000587402:exon5:c.C302G:p.T101R;ENSG00000078142:ENST00000593098:exon8:c.C716G:p.T239R;ENSG00000078142:ENST00000398870:exon20:c.C2072G:p.T691R;ENSG00000078142:ENST00000589056:exon5:c.C302G:p.T101R;	0.917638264005099	0.678
18	39629567	C	T	18	42049603	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.C2261T:p.T754I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.C2261T:p.T754I;ENSG00000078142:ENST00000587402:exon5:c.C302T:p.T101I;ENSG00000078142:ENST00000593098:exon8:c.C716T:p.T239I;ENSG00000078142:ENST00000398870:exon20:c.C2072T:p.T691I;ENSG00000078142:ENST00000589056:exon5:c.C302T:p.T101I;	0.999857244636544	0.972
18	39629568	A	C	18	42049604	y	n	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon21:c.A2262C:p.T754T;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.A2262C:p.T754T;ENSG00000078142:ENST00000587402:exon5:c.A303C:p.T101T;ENSG00000078142:ENST00000593098:exon8:c.A717C:p.T239T;ENSG00000078142:ENST00000398870:exon20:c.A2073C:p.T691T;ENSG00000078142:ENST00000589056:exon5:c.A303C:p.T101T;	0.981163867477927	0.838
18	39629568	A	G	18	42049604	y	n	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon21:c.A2262G:p.T754T;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.A2262G:p.T754T;ENSG00000078142:ENST00000587402:exon5:c.A303G:p.T101T;ENSG00000078142:ENST00000593098:exon8:c.A717G:p.T239T;ENSG00000078142:ENST00000398870:exon20:c.A2073G:p.T691T;ENSG00000078142:ENST00000589056:exon5:c.A303G:p.T101T;	0.992917972793983	0.866
18	39629568	A	T	18	42049604	y	n	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon21:c.A2262T:p.T754T;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.A2262T:p.T754T;ENSG00000078142:ENST00000587402:exon5:c.A303T:p.T101T;ENSG00000078142:ENST00000593098:exon8:c.A717T:p.T239T;ENSG00000078142:ENST00000398870:exon20:c.A2073T:p.T691T;ENSG00000078142:ENST00000589056:exon5:c.A303T:p.T101T;	0.997739222427718	0.966
18	39629569	G	A	18	42049605	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.G2263A:p.G755S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.G2263A:p.G755S;ENSG00000078142:ENST00000587402:exon5:c.G304A:p.G102R;ENSG00000078142:ENST00000593098:exon8:c.G718A:p.G240S;ENSG00000078142:ENST00000398870:exon20:c.G2074A:p.G692S;ENSG00000078142:ENST00000589056:exon5:c.G304A:p.G102S;	0.999994825230111	1.0
18	39629569	G	C	18	42049605	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.G2263C:p.G755R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon21:c.G2263C:p.G755R;ENSG00000078142:ENST00000587402:exon5:c.G304C:p.G102R;ENSG00000078142:ENST00000593098:exon8:c.G718C:p.G240R;ENSG00000078142:ENST00000398870:exon20:c.G2074C:p.G692R;ENSG00000078142:ENST00000589056:exon5:c.G304C:p.G102R;	0.99999721398396	1.0
18	39629569	G	T	18	42049605	y	n	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon21:c.G2263T:p.G755C;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000587402:exon5:c.G304T:p.G102X;	0.999990802234312	1.0
18	39629570	G	A	18	42049606	y	n	splicing	PIK3C3(NM_002647:exon21:c.2263+1G>A)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon21:c.2263+1G>A;ENST00000398870:exon20:c.2074+1G>A;ENST00000593098:exon8:c.718+1G>A;ENST00000587402:exon5:c.304+1G>A)	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.G305A:p.G102D;	0.999990361384395	0.938
18	39629570	G	C	18	42049606	y	n	splicing	PIK3C3(NM_002647:exon21:c.2263+1G>C)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon21:c.2263+1G>C;ENST00000398870:exon20:c.2074+1G>C;ENST00000593098:exon8:c.718+1G>C;ENST00000587402:exon5:c.304+1G>C)	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.G305C:p.G102A;	0.999990361384395	0.938
18	39629570	G	T	18	42049606	y	n	splicing	PIK3C3(NM_002647:exon21:c.2263+1G>T)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon21:c.2263+1G>T;ENST00000398870:exon20:c.2074+1G>T;ENST00000593098:exon8:c.718+1G>T;ENST00000587402:exon5:c.304+1G>T)	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.G305T:p.G102V;	0.999990361384395	0.938
18	39629571	T	A	18	42049607	y	n	splicing	PIK3C3(NM_002647:exon21:c.2263+2T>A)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon21:c.2263+2T>A;ENST00000398870:exon20:c.2074+2T>A;ENST00000593098:exon8:c.718+2T>A;ENST00000587402:exon5:c.304+2T>A)	synonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.T306A:p.G102G;	0.999988247793601	0.93
18	39629571	T	C	18	42049607	y	n	splicing	PIK3C3(NM_002647:exon21:c.2263+2T>C)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon21:c.2263+2T>C;ENST00000398870:exon20:c.2074+2T>C;ENST00000593098:exon8:c.718+2T>C;ENST00000587402:exon5:c.304+2T>C)	synonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.T306C:p.G102G;	0.996388929962285	0.708
18	39629571	T	G	18	42049607	y	n	splicing	PIK3C3(NM_002647:exon21:c.2263+2T>G)	.	.	exonic;splicing	ENSG00000078142;ENSG00000078142(ENST00000262039:exon21:c.2263+2T>G;ENST00000398870:exon20:c.2074+2T>G;ENST00000593098:exon8:c.718+2T>G;ENST00000587402:exon5:c.304+2T>G)	synonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.T306G:p.G102G;	0.999988247793601	0.93
18	39629572	A	C	18	42049608	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A307C:p.N103H;	0.999709228282995	0.936
18	39629572	A	G	18	42049608	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A307G:p.N103D;	0.999352158250062	0.966
18	39629572	A	T	18	42049608	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A307T:p.N103Y;	0.999861776803961	0.938
18	39629573	A	C	18	42049609	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A308C:p.N103T;	0.044904923801362	0.32
18	39629573	A	G	18	42049609	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A308G:p.N103S;	0.366535512802052	0.368
18	39629573	A	T	18	42049609	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A308T:p.N103I;	0.0865559354585142	0.306
18	39629574	C	A	18	42049610	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.C309A:p.N103K;	1.22220449286506E-4	0.046
18	39629574	C	G	18	42049610	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.C309G:p.N103K;	1.26848619272443E-4	0.038
18	39629574	C	T	18	42049610	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.C309T:p.N103N;	1.27276291497342E-4	0.002
18	39629575	A	C	18	42049611	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A310C:p.N104H;	0.00163840697847548	0.042
18	39629575	A	G	18	42049611	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A310G:p.N104D;	1.36027390982192E-4	0.006
18	39629575	A	T	18	42049611	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A310T:p.N104Y;	2.2573364981121E-4	0.006
18	39629576	A	C	18	42049612	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A311C:p.N104T;	2.08277569470537E-5	0.0
18	39629576	A	G	18	42049612	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A311G:p.N104S;	2.99532020551949E-5	0.006
18	39629576	A	T	18	42049612	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.A311T:p.N104I;	1.18319301120726E-4	0.0
18	39629577	T	A	18	42049613	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.T312A:p.N104K;	3.7718548018158E-5	0.018
18	39629577	T	C	18	42049613	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.T312C:p.N104N;	5.4518697930878E-5	0.008
18	39629577	T	G	18	42049613	y	n	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000589056:exon5:c.T312G:p.N104K;	3.7718548018158E-5	0.004
18	39629820	C	A	18	42049856	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.67406935090243E-5	0.0
18	39629820	C	G	18	42049856	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.67406935090243E-5	0.0
18	39629820	C	T	18	42049856	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.67406935090243E-5	0.0
18	39629821	C	A	18	42049857	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.67406935090243E-5	0.002
18	39629821	C	G	18	42049857	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.08378557604853E-5	0.0
18	39629821	C	T	18	42049857	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.67406935090243E-5	0.0
18	39629822	A	C	18	42049858	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	2.60742385600787E-5	0.014
18	39629822	A	G	18	42049858	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	2.60742385600787E-5	0.014
18	39629822	A	T	18	42049858	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	6.18905158676629E-5	0.016
18	39629823	A	C	18	42049859	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.95241758590049E-5	0.0
18	39629823	A	G	18	42049859	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.95241758590049E-5	0.0
18	39629823	A	T	18	42049859	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.01578748569253E-5	0.0
18	39629824	C	A	18	42049860	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629824	C	G	18	42049860	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629824	C	T	18	42049860	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629825	T	A	18	42049861	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	6.18905158676629E-5	0.016
18	39629825	T	C	18	42049861	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	2.60742385600787E-5	0.01
18	39629825	T	G	18	42049861	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	2.60742385600787E-5	0.01
18	39629826	A	C	18	42049862	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.76502774581184E-5	0.0
18	39629826	A	G	18	42049862	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.76502774581184E-5	0.0
18	39629826	A	T	18	42049862	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.76502774581184E-5	0.0
18	39629827	C	A	18	42049863	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629827	C	G	18	42049863	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629827	C	T	18	42049863	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629828	T	A	18	42049864	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.76502774581184E-5	0.0
18	39629828	T	C	18	42049864	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.76502774581184E-5	0.0
18	39629828	T	G	18	42049864	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	1.76502774581184E-5	0.0
18	39629829	C	A	18	42049865	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629829	C	G	18	42049865	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629829	C	T	18	42049865	n	y	intronic	PIK3C3	.	.	UTR3	ENSG00000078142	.	.	3.32651317629065E-5	0.014
18	39629830	A	C	18	42049866	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587402:exon6:c.305-2A>C)	.	.	1.42005417025298E-5	0.0
18	39629830	A	G	18	42049866	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587402:exon6:c.305-2A>G)	.	.	1.42005417025298E-5	0.0
18	39629830	A	T	18	42049866	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587402:exon6:c.305-2A>T)	.	.	1.42005417025298E-5	0.0
18	39629831	G	A	18	42049867	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587402:exon6:c.305-1G>A)	.	.	1.12288223045236E-5	0.0
18	39629831	G	C	18	42049867	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587402:exon6:c.305-1G>C)	.	.	7.2694790039333E-6	0.0
18	39629831	G	T	18	42049867	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587402:exon6:c.305-1G>T)	.	.	7.2694790039333E-6	0.0
18	39629832	G	A	18	42049868	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587402:exon6:c.G305A:p.G102E;	3.32651317629065E-5	0.014
18	39629832	G	C	18	42049868	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587402:exon6:c.G305C:p.G102A;	3.32651317629065E-5	0.014
18	39629832	G	T	18	42049868	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587402:exon6:c.G305T:p.G102V;	3.32651317629065E-5	0.014
18	39629833	A	C	18	42049869	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000587402:exon6:c.A306C:p.G102G;	2.60742385600787E-5	0.01
18	39629833	A	G	18	42049869	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000587402:exon6:c.A306G:p.G102G;	2.60742385600787E-5	0.01
18	39629833	A	T	18	42049869	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000587402:exon6:c.A306T:p.G102G;	6.18905158676629E-5	0.016
18	39637835	G	A	18	42057871	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.0474609021303E-4	0.018
18	39637835	G	C	18	42057871	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.17763574546094E-5	0.04
18	39637835	G	T	18	42057871	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.92672682481262E-5	0.04
18	39637836	T	A	18	42057872	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.999954429252751	0.98
18	39637836	T	C	18	42057872	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.977609380560935	0.802
18	39637836	T	G	18	42057872	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.999966959853773	0.954
18	39637837	C	A	18	42057873	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00784151299248097	0.328
18	39637837	C	G	18	42057873	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00131585083058484	0.158
18	39637837	C	T	18	42057873	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.08489113486221E-4	0.318
18	39637838	A	C	18	42057874	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.41348619651989E-5	0.236
18	39637838	A	G	18	42057874	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.56978265718024E-4	0.088
18	39637838	A	T	18	42057874	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.47791131813023E-4	0.28
18	39637839	A	C	18	42057875	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00433340983814046	0.194
18	39637839	A	G	18	42057875	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.999209931746209	0.94
18	39637839	A	T	18	42057875	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00983762836800186	0.244
18	39637840	C	A	18	42057876	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0393783539794012	0.198
18	39637840	C	G	18	42057876	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.999979739958082	0.962
18	39637840	C	T	18	42057876	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.97503622842126E-5	0.072
18	39637841	A	C	18	42057877	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00220992900259844	0.068
18	39637841	A	G	18	42057877	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0110397651307115	0.166
18	39637841	A	T	18	42057877	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00220992900259844	0.064
18	39637842	T	A	18	42057878	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.403593084921785	0.662
18	39637842	T	C	18	42057878	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0153771100561371	0.13
18	39637842	T	G	18	42057878	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.999936809580692	0.968
18	39637843	C	A	18	42057879	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.17041221623311E-4	0.14
18	39637843	C	G	18	42057879	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	7.33158435534075E-4	0.182
18	39637843	C	T	18	42057879	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.17041221623311E-4	0.036
18	39637844	C	A	18	42057880	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.996441130927085	0.87
18	39637844	C	G	18	42057880	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.999866584042534	0.894
18	39637844	C	T	18	42057880	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.00768394166556687	0.292
18	39637845	A	C	18	42057881	y	y	splicing	PIK3C3(NM_002647:exon22:c.2264-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2264-2A>C;ENST00000398870:exon21:c.2075-2A>C;ENST00000593098:exon9:c.719-2A>C)	.	.	0.999988624979899	0.936
18	39637845	A	G	18	42057881	y	y	splicing	PIK3C3(NM_002647:exon22:c.2264-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2264-2A>G;ENST00000398870:exon21:c.2075-2A>G;ENST00000593098:exon9:c.719-2A>G)	.	.	0.999988624979899	0.936
18	39637845	A	T	18	42057881	y	y	splicing	PIK3C3(NM_002647:exon22:c.2264-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2264-2A>T;ENST00000398870:exon21:c.2075-2A>T;ENST00000593098:exon9:c.719-2A>T)	.	.	0.999988624979899	0.936
18	39637846	G	A	18	42057882	y	y	splicing	PIK3C3(NM_002647:exon22:c.2264-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2264-1G>A;ENST00000398870:exon21:c.2075-1G>A;ENST00000593098:exon9:c.719-1G>A)	.	.	0.999984967332678	0.942
18	39637846	G	C	18	42057882	y	y	splicing	PIK3C3(NM_002647:exon22:c.2264-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2264-1G>C;ENST00000398870:exon21:c.2075-1G>C;ENST00000593098:exon9:c.719-1G>C)	.	.	0.999984967332678	0.942
18	39637846	G	T	18	42057882	y	y	splicing	PIK3C3(NM_002647:exon22:c.2264-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2264-1G>T;ENST00000398870:exon21:c.2075-1G>T;ENST00000593098:exon9:c.719-1G>T)	.	.	0.999984967332678	0.942
18	39637847	G	A	18	42057883	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon22:c.G2264A:p.G755D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.G2264A:p.G755D;ENSG00000078142:ENST00000593098:exon9:c.G719A:p.G240D;ENSG00000078142:ENST00000398870:exon21:c.G2075A:p.G692D;	0.999761922423652	0.95
18	39637847	G	C	18	42057883	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon22:c.G2264C:p.G755A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.G2264C:p.G755A;ENSG00000078142:ENST00000593098:exon9:c.G719C:p.G240A;ENSG00000078142:ENST00000398870:exon21:c.G2075C:p.G692A;	0.999797952536829	0.984
18	39637847	G	T	18	42057883	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon22:c.G2264T:p.G755V;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.G2264T:p.G755V;ENSG00000078142:ENST00000593098:exon9:c.G719T:p.G240V;ENSG00000078142:ENST00000398870:exon21:c.G2075T:p.G692V;	0.999876455394912	0.992
18	39637848	C	A	18	42057884	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon22:c.C2265A:p.G755G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.C2265A:p.G755G;ENSG00000078142:ENST00000593098:exon9:c.C720A:p.G240G;ENSG00000078142:ENST00000398870:exon21:c.C2076A:p.G692G;	4.64500509347004E-5	0.0
18	39637848	C	G	18	42057884	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon22:c.C2265G:p.G755G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.C2265G:p.G755G;ENSG00000078142:ENST00000593098:exon9:c.C720G:p.G240G;ENSG00000078142:ENST00000398870:exon21:c.C2076G:p.G692G;	9.18758470756415E-5	0.008
18	39637848	C	T	18	42057884	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon22:c.C2265T:p.G755G;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.C2265T:p.G755G;ENSG00000078142:ENST00000593098:exon9:c.C720T:p.G240G;ENSG00000078142:ENST00000398870:exon21:c.C2076T:p.G692G;	1.74678458096074E-4	0.028
18	39638013	A	C	18	42058049	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon22:c.A2430C:p.R810R;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.A2430C:p.R810R;ENSG00000078142:ENST00000593098:exon9:c.A885C:p.R295R;ENSG00000078142:ENST00000398870:exon21:c.A2241C:p.R747R;ENSG00000078142:ENST00000588156:exon1:c.A102C:p.R34R;	2.23318928382735E-4	0.006
18	39638013	A	G	18	42058049	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon22:c.A2430G:p.R810R;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.A2430G:p.R810R;ENSG00000078142:ENST00000593098:exon9:c.A885G:p.R295R;ENSG00000078142:ENST00000398870:exon21:c.A2241G:p.R747R;ENSG00000078142:ENST00000588156:exon1:c.A102G:p.R34R;	1.20748128456769E-4	0.024
18	39638013	A	T	18	42058049	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon22:c.A2430T:p.R810R;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.A2430T:p.R810R;ENSG00000078142:ENST00000593098:exon9:c.A885T:p.R295R;ENSG00000078142:ENST00000398870:exon21:c.A2241T:p.R747R;ENSG00000078142:ENST00000588156:exon1:c.A102T:p.R34R;	9.83224028806382E-4	0.176
18	39638014	A	C	18	42058050	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon22:c.A2431C:p.R811R;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.A2431C:p.R811R;ENSG00000078142:ENST00000593098:exon9:c.A886C:p.R296R;ENSG00000078142:ENST00000398870:exon21:c.A2242C:p.R748R;ENSG00000078142:ENST00000588156:exon1:c.A103C:p.R35R;	0.0438763262108762	0.424
18	39638014	A	G	18	42058050	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon22:c.A2431G:p.R811G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.A2431G:p.R811G;ENSG00000078142:ENST00000593098:exon9:c.A886G:p.R296G;ENSG00000078142:ENST00000398870:exon21:c.A2242G:p.R748G;ENSG00000078142:ENST00000588156:exon1:c.A103G:p.R35G;	0.307087536026783	0.424
18	39638014	A	T	18	42058050	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon22:c.A2431T:p.R811W;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.A2431T:p.R811W;ENSG00000078142:ENST00000593098:exon9:c.A886T:p.R296W;ENSG00000078142:ENST00000398870:exon21:c.A2242T:p.R748W;ENSG00000078142:ENST00000588156:exon1:c.A103T:p.R35W;	0.231148585315627	0.418
18	39638015	G	A	18	42058051	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon22:c.G2432A:p.R811K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.G2432A:p.R811K;ENSG00000078142:ENST00000593098:exon9:c.G887A:p.R296K;ENSG00000078142:ENST00000398870:exon21:c.G2243A:p.R748K;ENSG00000078142:ENST00000588156:exon1:c.G104A:p.R35K;	0.393797824196539	0.594
18	39638015	G	C	18	42058051	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon22:c.G2432C:p.R811T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.G2432C:p.R811T;ENSG00000078142:ENST00000593098:exon9:c.G887C:p.R296T;ENSG00000078142:ENST00000398870:exon21:c.G2243C:p.R748T;ENSG00000078142:ENST00000588156:exon1:c.G104C:p.R35T;	0.978815243986241	0.804
18	39638015	G	T	18	42058051	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon22:c.G2432T:p.R811M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon22:c.G2432T:p.R811M;ENSG00000078142:ENST00000593098:exon9:c.G887T:p.R296M;ENSG00000078142:ENST00000398870:exon21:c.G2243T:p.R748M;ENSG00000078142:ENST00000588156:exon1:c.G104T:p.R35M;	0.971723869606941	0.824
18	39638016	G	A	18	42058052	y	y	splicing	PIK3C3(NM_002647:exon22:c.2432+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2432+1G>A;ENST00000398870:exon21:c.2243+1G>A;ENST00000593098:exon9:c.887+1G>A;ENST00000588156:exon1:c.104+1G>A)	.	.	0.999986675681007	0.934
18	39638016	G	C	18	42058052	y	y	splicing	PIK3C3(NM_002647:exon22:c.2432+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2432+1G>C;ENST00000398870:exon21:c.2243+1G>C;ENST00000593098:exon9:c.887+1G>C;ENST00000588156:exon1:c.104+1G>C)	.	.	0.999986675681007	0.934
18	39638016	G	T	18	42058052	y	y	splicing	PIK3C3(NM_002647:exon22:c.2432+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2432+1G>T;ENST00000398870:exon21:c.2243+1G>T;ENST00000593098:exon9:c.887+1G>T;ENST00000588156:exon1:c.104+1G>T)	.	.	0.999986675681007	0.934
18	39638017	T	A	18	42058053	y	y	splicing	PIK3C3(NM_002647:exon22:c.2432+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2432+2T>A;ENST00000398870:exon21:c.2243+2T>A;ENST00000593098:exon9:c.887+2T>A;ENST00000588156:exon1:c.104+2T>A)	.	.	0.999989917668626	0.928
18	39638017	T	C	18	42058053	y	y	splicing	PIK3C3(NM_002647:exon22:c.2432+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2432+2T>C;ENST00000398870:exon21:c.2243+2T>C;ENST00000593098:exon9:c.887+2T>C;ENST00000588156:exon1:c.104+2T>C)	.	.	0.992022072753565	0.622
18	39638017	T	G	18	42058053	y	y	splicing	PIK3C3(NM_002647:exon22:c.2432+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon22:c.2432+2T>G;ENST00000398870:exon21:c.2243+2T>G;ENST00000593098:exon9:c.887+2T>G;ENST00000588156:exon1:c.104+2T>G)	.	.	0.999989917668626	0.928
18	39638018	A	C	18	42058054	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.892115158511915	0.63
18	39638018	A	G	18	42058054	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00104354187530504	0.058
18	39638018	A	T	18	42058054	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.782621100392376	0.576
18	39638019	A	C	18	42058055	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.74506706640154	0.634
18	39638019	A	G	18	42058055	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.925916553534781	0.654
18	39638019	A	T	18	42058055	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.859917900747484	0.64
18	39638020	G	A	18	42058056	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.922290336182667	0.614
18	39638020	G	C	18	42058056	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.651849759331713	0.42
18	39638020	G	T	18	42058056	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.821602713918627	0.53
18	39638021	T	A	18	42058057	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00573522879256225	0.182
18	39638021	T	C	18	42058057	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00574137400580439	0.152
18	39638021	T	G	18	42058057	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00374046872872346	0.134
18	39638022	T	A	18	42058058	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.19048695170389E-4	0.066
18	39638022	T	C	18	42058058	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.19048695170389E-4	0.006
18	39638022	T	G	18	42058058	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.24195462102371E-4	0.016
18	39638023	G	A	18	42058059	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.25030593616192E-4	0.008
18	39638023	G	C	18	42058059	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.51077654773029E-4	0.004
18	39638023	G	T	18	42058059	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.49817874025862E-4	0.006
18	39639747	T	A	18	42059783	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.99153316237132E-5	0.0
18	39639747	T	C	18	42059783	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.99153316237132E-5	0.0
18	39639747	T	G	18	42059783	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.99153316237132E-5	0.0
18	39639748	T	A	18	42059784	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639748	T	C	18	42059784	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639748	T	G	18	42059784	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639749	T	A	18	42059785	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639749	T	C	18	42059785	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639749	T	G	18	42059785	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639750	T	A	18	42059786	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639750	T	C	18	42059786	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639750	T	G	18	42059786	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639751	T	A	18	42059787	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639751	T	C	18	42059787	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639751	T	G	18	42059787	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639752	G	A	18	42059788	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.0288925866825E-5	0.002
18	39639752	G	C	18	42059788	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.0288925866825E-5	0.002
18	39639752	G	T	18	42059788	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.0288925866825E-5	0.002
18	39639753	A	C	18	42059789	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639753	A	G	18	42059789	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639753	A	T	18	42059789	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.014
18	39639754	G	A	18	42059790	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.19654958573966E-5	0.02
18	39639754	G	C	18	42059790	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.19654958573966E-5	0.02
18	39639754	G	T	18	42059790	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.19654958573966E-5	0.02
18	39639755	A	C	18	42059791	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.68284073685752E-5	0.004
18	39639755	A	G	18	42059791	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.73686617846189E-5	0.004
18	39639755	A	T	18	42059791	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.68284073685752E-5	0.004
18	39639756	C	A	18	42059792	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639756	C	G	18	42059792	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639756	C	T	18	42059792	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639757	A	C	18	42059793	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639757	A	G	18	42059793	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639757	A	T	18	42059793	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639758	G	A	18	42059794	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	6.19654958573966E-5	0.02
18	39639758	G	C	18	42059794	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	6.19654958573966E-5	0.02
18	39639758	G	T	18	42059794	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142	.	.	6.19654958573966E-5	0.02
18	39639759	G	A	18	42059795	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639759	G	C	18	42059795	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639759	G	T	18	42059795	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.45277156108894E-5	0.0
18	39639760	T	A	18	42059796	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.68284073685752E-5	0.004
18	39639760	T	C	18	42059796	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.68284073685752E-5	0.004
18	39639760	T	G	18	42059796	n	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.68284073685752E-5	0.004
18	39639856	C	A	18	42059892	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000587261:exon2:c.C24A:p.C8X;	2.45277156108894E-5	0.0
18	39639856	C	G	18	42059892	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587261:exon2:c.C24G:p.C8W;	2.45277156108894E-5	0.0
18	39639856	C	T	18	42059892	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000587261:exon2:c.C24T:p.C8C;	2.45277156108894E-5	0.0
18	39639857	A	C	18	42059893	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000587261:exon2:c.A25C:p.R9R;	2.68284073685752E-5	0.022
18	39639857	A	G	18	42059893	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587261:exon2:c.A25G:p.R9G;	2.68284073685752E-5	0.008
18	39639857	A	T	18	42059893	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587261:exon2:c.A25T:p.R9W;	2.68284073685752E-5	0.004
18	39639858	G	A	18	42059894	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587261:exon2:c.G26A:p.R9K;	6.19654958573966E-5	0.022
18	39639858	G	C	18	42059894	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587261:exon2:c.G26C:p.R9T;	6.19654958573966E-5	0.02
18	39639858	G	T	18	42059894	n	y	intronic	PIK3C3	.	.	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587261:exon2:c.G26T:p.R9M;	6.19654958573966E-5	0.02
18	39639859	G	A	18	42059895	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587261:exon2:c.26+1G>A)	.	.	6.19654958573966E-5	0.024
18	39639859	G	C	18	42059895	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587261:exon2:c.26+1G>C)	.	.	6.19654958573966E-5	0.02
18	39639859	G	T	18	42059895	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587261:exon2:c.26+1G>T)	.	.	6.19654958573966E-5	0.02
18	39639860	T	A	18	42059896	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587261:exon2:c.26+2T>A)	.	.	2.27163650926202E-4	0.026
18	39639860	T	C	18	42059896	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587261:exon2:c.26+2T>C)	.	.	9.57123356397867E-5	0.02
18	39639860	T	G	18	42059896	n	y	intronic	PIK3C3	.	.	splicing	ENSG00000078142(ENST00000587261:exon2:c.26+2T>G)	.	.	9.57123356397867E-5	0.02
18	39639861	A	C	18	42059897	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.02
18	39639861	A	G	18	42059897	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.57123356397867E-5	0.02
18	39639861	A	T	18	42059897	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.27163650926202E-4	0.026
18	39639862	G	A	18	42059898	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.37501361942679E-5	0.002
18	39639862	G	C	18	42059898	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.90177193295887E-6	0.004
18	39639862	G	T	18	42059898	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	8.90177193295887E-6	0.018
18	39639863	C	A	18	42059899	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.03469359918573E-4	0.096
18	39639863	C	G	18	42059899	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.03469359918573E-4	0.096
18	39639863	C	T	18	42059899	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.03469359918573E-4	0.096
18	39639864	T	A	18	42059900	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.58927937202005E-5	0.002
18	39639864	T	C	18	42059900	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.58927937202005E-5	0.002
18	39639864	T	G	18	42059900	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.58927937202005E-5	0.002
18	39639865	G	A	18	42059901	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.0288925866825E-5	0.002
18	39639865	G	C	18	42059901	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.0288925866825E-5	0.002
18	39639865	G	T	18	42059901	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.0288925866825E-5	0.002
18	39639866	G	A	18	42059902	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.99153316237132E-5	0.0
18	39639866	G	C	18	42059902	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.99153316237132E-5	0.0
18	39639866	G	T	18	42059902	n	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.99153316237132E-5	0.0
18	39644692	G	A	18	42064728	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.43183324661371E-5	0.002
18	39644692	G	C	18	42064728	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.91779496777568E-6	0.002
18	39644692	G	T	18	42064728	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.78793930949619E-6	0.018
18	39644693	C	A	18	42064729	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.09359532989458E-5	0.002
18	39644693	C	G	18	42064729	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.27333989493383E-5	0.002
18	39644693	C	T	18	42064729	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.68930548505616E-5	0.0
18	39644694	T	A	18	42064730	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.93336318074868E-4	0.106
18	39644694	T	C	18	42064730	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.58390125241342E-5	0.0
18	39644694	T	G	18	42064730	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.99754108155546E-5	0.1
18	39644695	C	A	18	42064731	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	4.52277521225849E-4	0.084
18	39644695	C	G	18	42064731	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.1220327958835E-4	0.074
18	39644695	C	T	18	42064731	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.22828992358466E-5	0.002
18	39644696	T	A	18	42064732	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	6.19397775495021E-5	0.03
18	39644696	T	C	18	42064732	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.15402100965057E-5	0.006
18	39644696	T	G	18	42064732	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	5.63746677383272E-5	0.03
18	39644697	T	A	18	42064733	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.25788236005284E-4	0.06
18	39644697	T	C	18	42064733	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.54982485894944E-4	0.0
18	39644697	T	G	18	42064733	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.18154421406381E-4	0.028
18	39644698	C	A	18	42064734	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	2.73088197545733E-4	0.104
18	39644698	C	G	18	42064734	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.70669015286947E-4	0.092
18	39644698	C	T	18	42064734	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	8.21148744842776E-5	0.03
18	39644699	T	A	18	42064735	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0532747238323861	0.42
18	39644699	T	C	18	42064735	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.79306375513028E-4	0.076
18	39644699	T	G	18	42064735	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.163011998982186	0.442
18	39644700	T	A	18	42064736	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	7.34013150294779E-4	0.034
18	39644700	T	C	18	42064736	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	1.041195462516E-4	0.006
18	39644700	T	G	18	42064736	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	3.17466101753072E-4	0.03
18	39644701	T	A	18	42064737	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.0196638403120336	0.186
18	39644701	T	C	18	42064737	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	9.55888146836671E-5	0.014
18	39644701	T	G	18	42064737	y	y	intronic	PIK3C3	.	.	UTR5	ENSG00000078142	.	.	0.997126342488867	0.8
18	39644702	A	C	18	42064738	y	y	splicing	PIK3C3(NM_002647:exon23:c.2433-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2433-2A>C;ENST00000398870:exon22:c.2244-2A>C;ENST00000593098:exon10:c.888-2A>C;ENST00000587261:exon3:c.27-2A>C;ENST00000588156:exon2:c.105-2A>C)	.	.	0.999988247793601	0.93
18	39644702	A	G	18	42064738	y	y	splicing	PIK3C3(NM_002647:exon23:c.2433-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2433-2A>G;ENST00000398870:exon22:c.2244-2A>G;ENST00000593098:exon10:c.888-2A>G;ENST00000587261:exon3:c.27-2A>G;ENST00000588156:exon2:c.105-2A>G)	.	.	0.999988247793601	0.93
18	39644702	A	T	18	42064738	y	y	splicing	PIK3C3(NM_002647:exon23:c.2433-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2433-2A>T;ENST00000398870:exon22:c.2244-2A>T;ENST00000593098:exon10:c.888-2A>T;ENST00000587261:exon3:c.27-2A>T;ENST00000588156:exon2:c.105-2A>T)	.	.	0.999988247793601	0.93
18	39644703	G	A	18	42064739	y	y	splicing	PIK3C3(NM_002647:exon23:c.2433-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2433-1G>A;ENST00000398870:exon22:c.2244-1G>A;ENST00000593098:exon10:c.888-1G>A;ENST00000587261:exon3:c.27-1G>A;ENST00000588156:exon2:c.105-1G>A)	.	.	0.999990361384395	0.938
18	39644703	G	C	18	42064739	y	y	splicing	PIK3C3(NM_002647:exon23:c.2433-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2433-1G>C;ENST00000398870:exon22:c.2244-1G>C;ENST00000593098:exon10:c.888-1G>C;ENST00000587261:exon3:c.27-1G>C;ENST00000588156:exon2:c.105-1G>C)	.	.	0.999990361384395	0.938
18	39644703	G	T	18	42064739	y	y	splicing	PIK3C3(NM_002647:exon23:c.2433-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2433-1G>T;ENST00000398870:exon22:c.2244-1G>T;ENST00000593098:exon10:c.888-1G>T;ENST00000587261:exon3:c.27-1G>T;ENST00000588156:exon2:c.105-1G>T)	.	.	0.999990361384395	0.938
18	39644704	G	A	18	42064740	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon23:c.G2433A:p.R811R;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000262039:exon23:c.G2433A:p.R811R;ENSG00000078142:ENST00000593098:exon10:c.G888A:p.R296R;ENSG00000078142:ENST00000398870:exon22:c.G2244A:p.R748R;ENSG00000078142:ENST00000587261:exon3:c.G27A:p.R9R;ENSG00000078142:ENST00000588156:exon2:c.G105A:p.R35R;	0.0102866356681319	0.21
18	39644704	G	C	18	42064740	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.G2433C:p.R811S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon23:c.G2433C:p.R811S;ENSG00000078142:ENST00000593098:exon10:c.G888C:p.R296S;ENSG00000078142:ENST00000398870:exon22:c.G2244C:p.R748S;ENSG00000078142:ENST00000587261:exon3:c.G27C:p.R9S;ENSG00000078142:ENST00000588156:exon2:c.G105C:p.R35S;	0.532189309002235	0.704
18	39644704	G	T	18	42064740	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.G2433T:p.R811S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon23:c.G2433T:p.R811S;ENSG00000078142:ENST00000593098:exon10:c.G888T:p.R296S;ENSG00000078142:ENST00000398870:exon22:c.G2244T:p.R748S;ENSG00000078142:ENST00000587261:exon3:c.G27T:p.R9S;ENSG00000078142:ENST00000588156:exon2:c.G105T:p.R35S;	0.830323323837756	0.704
18	39644705	T	A	18	42064741	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.T2434A:p.Y812N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon23:c.T2434A:p.Y812N;ENSG00000078142:ENST00000593098:exon10:c.T889A:p.Y297N;ENSG00000078142:ENST00000398870:exon22:c.T2245A:p.Y749N;ENSG00000078142:ENST00000587261:exon3:c.T28A:p.Y10N;ENSG00000078142:ENST00000588156:exon2:c.T106A:p.Y36N;	0.00557023599654292	0.07
18	39644705	T	C	18	42064741	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.T2434C:p.Y812H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon23:c.T2434C:p.Y812H;ENSG00000078142:ENST00000593098:exon10:c.T889C:p.Y297H;ENSG00000078142:ENST00000398870:exon22:c.T2245C:p.Y749H;ENSG00000078142:ENST00000587261:exon3:c.T28C:p.Y10H;ENSG00000078142:ENST00000588156:exon2:c.T106C:p.Y36H;	0.00224754794972777	0.116
18	39644705	T	G	18	42064741	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.T2434G:p.Y812D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000262039:exon23:c.T2434G:p.Y812D;ENSG00000078142:ENST00000593098:exon10:c.T889G:p.Y297D;ENSG00000078142:ENST00000398870:exon22:c.T2245G:p.Y749D;ENSG00000078142:ENST00000587261:exon3:c.T28G:p.Y10D;ENSG00000078142:ENST00000588156:exon2:c.T106G:p.Y36D;	0.353169327179958	0.534
18	39644792	A	C	18	42064828	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.A2521C:p.K841Q;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon1:c.A55C:p.K19Q;ENSG00000078142:ENST00000262039:exon23:c.A2521C:p.K841Q;ENSG00000078142:ENST00000593098:exon10:c.A976C:p.K326Q;ENSG00000078142:ENST00000398870:exon22:c.A2332C:p.K778Q;ENSG00000078142:ENST00000587261:exon3:c.A115C:p.K39Q;ENSG00000078142:ENST00000588156:exon2:c.A193C:p.K65Q;	0.827037196448626	0.732
18	39644792	A	G	18	42064828	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.A2521G:p.K841E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon1:c.A55G:p.K19E;ENSG00000078142:ENST00000262039:exon23:c.A2521G:p.K841E;ENSG00000078142:ENST00000593098:exon10:c.A976G:p.K326E;ENSG00000078142:ENST00000398870:exon22:c.A2332G:p.K778E;ENSG00000078142:ENST00000587261:exon3:c.A115G:p.K39E;ENSG00000078142:ENST00000588156:exon2:c.A193G:p.K65E;	0.53643421341402	0.534
18	39644792	A	T	18	42064828	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon23:c.A2521T:p.K841X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000587328:exon1:c.A55T:p.K19X;ENSG00000078142:ENST00000262039:exon23:c.A2521T:p.K841X;ENSG00000078142:ENST00000593098:exon10:c.A976T:p.K326X;ENSG00000078142:ENST00000398870:exon22:c.A2332T:p.K778X;ENSG00000078142:ENST00000587261:exon3:c.A115T:p.K39X;ENSG00000078142:ENST00000588156:exon2:c.A193T:p.K65X;	0.998127341198716	0.764
18	39644793	A	C	18	42064829	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.A2522C:p.K841T;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon1:c.A56C:p.K19T;ENSG00000078142:ENST00000262039:exon23:c.A2522C:p.K841T;ENSG00000078142:ENST00000593098:exon10:c.A977C:p.K326T;ENSG00000078142:ENST00000398870:exon22:c.A2333C:p.K778T;ENSG00000078142:ENST00000587261:exon3:c.A116C:p.K39T;ENSG00000078142:ENST00000588156:exon2:c.A194C:p.K65T;	0.99393962014479	0.814
18	39644793	A	G	18	42064829	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.A2522G:p.K841R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon1:c.A56G:p.K19R;ENSG00000078142:ENST00000262039:exon23:c.A2522G:p.K841R;ENSG00000078142:ENST00000593098:exon10:c.A977G:p.K326R;ENSG00000078142:ENST00000398870:exon22:c.A2333G:p.K778R;ENSG00000078142:ENST00000587261:exon3:c.A116G:p.K39R;ENSG00000078142:ENST00000588156:exon2:c.A194G:p.K65R;	0.999441228218151	0.94
18	39644793	A	T	18	42064829	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.A2522T:p.K841M;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon1:c.A56T:p.K19M;ENSG00000078142:ENST00000262039:exon23:c.A2522T:p.K841M;ENSG00000078142:ENST00000593098:exon10:c.A977T:p.K326M;ENSG00000078142:ENST00000398870:exon22:c.A2333T:p.K778M;ENSG00000078142:ENST00000587261:exon3:c.A116T:p.K39M;ENSG00000078142:ENST00000588156:exon2:c.A194T:p.K65M;	0.9996583398566	0.972
18	39644794	G	A	18	42064830	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon23:c.G2523A:p.K841K;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000587328:exon1:c.G57A:p.K19K;ENSG00000078142:ENST00000262039:exon23:c.G2523A:p.K841K;ENSG00000078142:ENST00000593098:exon10:c.G978A:p.K326K;ENSG00000078142:ENST00000398870:exon22:c.G2334A:p.K778K;ENSG00000078142:ENST00000587261:exon3:c.G117A:p.K39K;ENSG00000078142:ENST00000588156:exon2:c.G195A:p.K65K;	0.999871229092848	0.996
18	39644794	G	C	18	42064830	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.G2523C:p.K841N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon1:c.G57C:p.K19N;ENSG00000078142:ENST00000262039:exon23:c.G2523C:p.K841N;ENSG00000078142:ENST00000593098:exon10:c.G978C:p.K326N;ENSG00000078142:ENST00000398870:exon22:c.G2334C:p.K778N;ENSG00000078142:ENST00000587261:exon3:c.G117C:p.K39N;ENSG00000078142:ENST00000588156:exon2:c.G195C:p.K65N;	0.99999721398396	1.0
18	39644794	G	T	18	42064830	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon23:c.G2523T:p.K841N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon1:c.G57T:p.K19N;ENSG00000078142:ENST00000262039:exon23:c.G2523T:p.K841N;ENSG00000078142:ENST00000593098:exon10:c.G978T:p.K326N;ENSG00000078142:ENST00000398870:exon22:c.G2334T:p.K778N;ENSG00000078142:ENST00000587261:exon3:c.G117T:p.K39N;ENSG00000078142:ENST00000588156:exon2:c.G195T:p.K65N;	0.999982567725171	0.946
18	39644795	G	A	18	42064831	y	y	splicing	PIK3C3(NM_002647:exon23:c.2523+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2523+1G>A;ENST00000398870:exon22:c.2334+1G>A;ENST00000593098:exon10:c.978+1G>A;ENST00000587261:exon3:c.117+1G>A;ENST00000588156:exon2:c.195+1G>A;ENST00000587328:exon1:c.57+1G>A)	.	.	0.999990361384395	0.938
18	39644795	G	C	18	42064831	y	y	splicing	PIK3C3(NM_002647:exon23:c.2523+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2523+1G>C;ENST00000398870:exon22:c.2334+1G>C;ENST00000593098:exon10:c.978+1G>C;ENST00000587261:exon3:c.117+1G>C;ENST00000588156:exon2:c.195+1G>C;ENST00000587328:exon1:c.57+1G>C)	.	.	0.999990361384395	0.938
18	39644795	G	T	18	42064831	y	y	splicing	PIK3C3(NM_002647:exon23:c.2523+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2523+1G>T;ENST00000398870:exon22:c.2334+1G>T;ENST00000593098:exon10:c.978+1G>T;ENST00000587261:exon3:c.117+1G>T;ENST00000588156:exon2:c.195+1G>T;ENST00000587328:exon1:c.57+1G>T)	.	.	0.999990361384395	0.938
18	39644796	T	A	18	42064832	y	y	splicing	PIK3C3(NM_002647:exon23:c.2523+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2523+2T>A;ENST00000398870:exon22:c.2334+2T>A;ENST00000593098:exon10:c.978+2T>A;ENST00000587261:exon3:c.117+2T>A;ENST00000588156:exon2:c.195+2T>A;ENST00000587328:exon1:c.57+2T>A)	.	.	0.999988247793601	0.932
18	39644796	T	C	18	42064832	y	y	splicing	PIK3C3(NM_002647:exon23:c.2523+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2523+2T>C;ENST00000398870:exon22:c.2334+2T>C;ENST00000593098:exon10:c.978+2T>C;ENST00000587261:exon3:c.117+2T>C;ENST00000588156:exon2:c.195+2T>C;ENST00000587328:exon1:c.57+2T>C)	.	.	0.996388929962285	0.726
18	39644796	T	G	18	42064832	y	y	splicing	PIK3C3(NM_002647:exon23:c.2523+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon23:c.2523+2T>G;ENST00000398870:exon22:c.2334+2T>G;ENST00000593098:exon10:c.978+2T>G;ENST00000587261:exon3:c.117+2T>G;ENST00000588156:exon2:c.195+2T>G;ENST00000587328:exon1:c.57+2T>G)	.	.	0.999988247793601	0.932
18	39644797	A	C	18	42064833	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999159273935169	0.962
18	39644797	A	G	18	42064833	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999000245347827	0.918
18	39644797	A	T	18	42064833	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999554248343429	0.896
18	39644798	A	C	18	42064834	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.115406414600875	0.426
18	39644798	A	G	18	42064834	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.422591528697905	0.516
18	39644798	A	T	18	42064834	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.190067530262761	0.47
18	39644799	T	A	18	42064835	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.92453802279461E-4	0.006
18	39644799	T	C	18	42064835	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	6.2633374075052E-5	0.006
18	39644799	T	G	18	42064835	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.64463841542191E-4	0.108
18	39644800	T	A	18	42064836	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.178343643703411	0.354
18	39644800	T	C	18	42064836	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.660809807706916	0.494
18	39644800	T	G	18	42064836	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0155759359449812	0.328
18	39644801	T	A	18	42064837	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.03577059960409E-5	0.024
18	39644801	T	C	18	42064837	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.03577059960409E-5	0.046
18	39644801	T	G	18	42064837	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.54424070276374E-5	0.048
18	39644802	T	A	18	42064838	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.12786175346948E-5	0.0
18	39644802	T	C	18	42064838	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.12786175346948E-5	0.0
18	39644802	T	G	18	42064838	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.21052313169262E-5	0.006
18	39647340	G	A	18	42067376	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.2201817066398E-5	0.002
18	39647340	G	C	18	42067376	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.55908716824608E-5	0.0
18	39647340	G	T	18	42067376	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.67944982512943E-5	0.004
18	39647341	T	A	18	42067377	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.829452871346284	0.43
18	39647341	T	C	18	42067377	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0449380357925201	0.2
18	39647341	T	G	18	42067377	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.90685980180622	0.48
18	39647342	T	A	18	42067378	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.96434934760668	0.672
18	39647342	T	C	18	42067378	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00171066747072476	0.084
18	39647342	T	G	18	42067378	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.171773776041313	0.416
18	39647343	A	C	18	42067379	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.250243698046E-5	0.0
18	39647343	A	G	18	42067379	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.52796351155811E-5	0.002
18	39647343	A	T	18	42067379	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.20175216104126E-5	0.0
18	39647344	T	A	18	42067380	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.300992350243492	0.304
18	39647344	T	C	18	42067380	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.46718807655292E-4	0.006
18	39647344	T	G	18	42067380	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999950651483467	0.992
18	39647345	C	A	18	42067381	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0215876884314425	0.14
18	39647345	C	G	18	42067381	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00992537951497106	0.09
18	39647345	C	T	18	42067381	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.43587634381725E-4	0.002
18	39647346	T	A	18	42067382	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.35852020492748	0.39
18	39647346	T	C	18	42067382	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.25185922762108E-4	0.008
18	39647346	T	G	18	42067382	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.60713808695729	0.474
18	39647347	T	A	18	42067383	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.915205707595114	0.566
18	39647347	T	C	18	42067383	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0409811318645483	0.18
18	39647347	T	G	18	42067383	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.913659339942993	0.592
18	39647348	A	C	18	42067384	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	1.66733738199476E-4	0.092
18	39647348	A	G	18	42067384	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.12277865438392E-4	0.012
18	39647348	A	T	18	42067384	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.570056439368E-5	0.0
18	39647349	T	A	18	42067385	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00326484892034896	0.216
18	39647349	T	C	18	42067385	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.81410417132452E-5	0.0
18	39647349	T	G	18	42067385	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.891298551740348	0.64
18	39647350	A	C	18	42067386	y	y	splicing	PIK3C3(NM_002647:exon24:c.2524-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2524-2A>C;ENST00000398870:exon23:c.2335-2A>C;ENST00000593098:exon11:c.979-2A>C;ENST00000587261:exon4:c.118-2A>C;ENST00000588156:exon3:c.196-2A>C;ENST00000587328:exon2:c.58-2A>C)	.	.	0.999989917668626	0.924
18	39647350	A	G	18	42067386	y	y	splicing	PIK3C3(NM_002647:exon24:c.2524-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2524-2A>G;ENST00000398870:exon23:c.2335-2A>G;ENST00000593098:exon11:c.979-2A>G;ENST00000587261:exon4:c.118-2A>G;ENST00000588156:exon3:c.196-2A>G;ENST00000587328:exon2:c.58-2A>G)	.	.	0.999985961189331	0.922
18	39647350	A	T	18	42067386	y	y	splicing	PIK3C3(NM_002647:exon24:c.2524-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2524-2A>T;ENST00000398870:exon23:c.2335-2A>T;ENST00000593098:exon11:c.979-2A>T;ENST00000587261:exon4:c.118-2A>T;ENST00000588156:exon3:c.196-2A>T;ENST00000587328:exon2:c.58-2A>T)	.	.	0.999989917668626	0.922
18	39647351	G	A	18	42067387	y	y	splicing	PIK3C3(NM_002647:exon24:c.2524-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2524-1G>A;ENST00000398870:exon23:c.2335-1G>A;ENST00000593098:exon11:c.979-1G>A;ENST00000587261:exon4:c.118-1G>A;ENST00000588156:exon3:c.196-1G>A;ENST00000587328:exon2:c.58-1G>A)	.	.	0.999986675681007	0.934
18	39647351	G	C	18	42067387	y	y	splicing	PIK3C3(NM_002647:exon24:c.2524-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2524-1G>C;ENST00000398870:exon23:c.2335-1G>C;ENST00000593098:exon11:c.979-1G>C;ENST00000587261:exon4:c.118-1G>C;ENST00000588156:exon3:c.196-1G>C;ENST00000587328:exon2:c.58-1G>C)	.	.	0.999986675681007	0.932
18	39647351	G	T	18	42067387	y	y	splicing	PIK3C3(NM_002647:exon24:c.2524-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2524-1G>T;ENST00000398870:exon23:c.2335-1G>T;ENST00000593098:exon11:c.979-1G>T;ENST00000587261:exon4:c.118-1G>T;ENST00000588156:exon3:c.196-1G>T;ENST00000587328:exon2:c.58-1G>T)	.	.	0.999986675681007	0.934
18	39647352	G	A	18	42067388	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.G2524A:p.V842I;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.G58A:p.V20I;ENSG00000078142:ENST00000262039:exon24:c.G2524A:p.V842I;ENSG00000078142:ENST00000593098:exon11:c.G979A:p.V327I;ENSG00000078142:ENST00000398870:exon23:c.G2335A:p.V779I;ENSG00000078142:ENST00000587261:exon4:c.G118A:p.V40I;ENSG00000078142:ENST00000588156:exon3:c.G196A:p.V66I;	0.9990505236588	0.93
18	39647352	G	C	18	42067388	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.G2524C:p.V842L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.G58C:p.V20L;ENSG00000078142:ENST00000262039:exon24:c.G2524C:p.V842L;ENSG00000078142:ENST00000593098:exon11:c.G979C:p.V327L;ENSG00000078142:ENST00000398870:exon23:c.G2335C:p.V779L;ENSG00000078142:ENST00000587261:exon4:c.G118C:p.V40L;ENSG00000078142:ENST00000588156:exon3:c.G196C:p.V66L;	0.999821795287389	0.972
18	39647352	G	T	18	42067388	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.G2524T:p.V842F;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.G58T:p.V20F;ENSG00000078142:ENST00000262039:exon24:c.G2524T:p.V842F;ENSG00000078142:ENST00000593098:exon11:c.G979T:p.V327F;ENSG00000078142:ENST00000398870:exon23:c.G2335T:p.V779F;ENSG00000078142:ENST00000587261:exon4:c.G118T:p.V40F;ENSG00000078142:ENST00000588156:exon3:c.G196T:p.V66F;	0.999951271213023	0.992
18	39647353	T	A	18	42067389	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.T2525A:p.V842D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.T59A:p.V20D;ENSG00000078142:ENST00000262039:exon24:c.T2525A:p.V842D;ENSG00000078142:ENST00000593098:exon11:c.T980A:p.V327D;ENSG00000078142:ENST00000398870:exon23:c.T2336A:p.V779D;ENSG00000078142:ENST00000587261:exon4:c.T119A:p.V40D;ENSG00000078142:ENST00000588156:exon3:c.T197A:p.V66D;	0.330505899419724	0.352
18	39647353	T	C	18	42067389	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.T2525C:p.V842A;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.T59C:p.V20A;ENSG00000078142:ENST00000262039:exon24:c.T2525C:p.V842A;ENSG00000078142:ENST00000593098:exon11:c.T980C:p.V327A;ENSG00000078142:ENST00000398870:exon23:c.T2336C:p.V779A;ENSG00000078142:ENST00000587261:exon4:c.T119C:p.V40A;ENSG00000078142:ENST00000588156:exon3:c.T197C:p.V66A;	0.363904323106629	0.424
18	39647353	T	G	18	42067389	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.T2525G:p.V842G;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.T59G:p.V20G;ENSG00000078142:ENST00000262039:exon24:c.T2525G:p.V842G;ENSG00000078142:ENST00000593098:exon11:c.T980G:p.V327G;ENSG00000078142:ENST00000398870:exon23:c.T2336G:p.V779G;ENSG00000078142:ENST00000587261:exon4:c.T119G:p.V40G;ENSG00000078142:ENST00000588156:exon3:c.T197G:p.V66G;	0.251438252810466	0.312
18	39647475	C	A	18	42067511	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.C2647A:p.Q883K;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.C181A:p.Q61K;ENSG00000078142:ENST00000262039:exon24:c.C2647A:p.Q883K;ENSG00000078142:ENST00000593098:exon11:c.C1102A:p.Q368K;ENSG00000078142:ENST00000398870:exon23:c.C2458A:p.Q820K;ENSG00000078142:ENST00000588156:exon3:c.C319A:p.Q107K;	0.559018026550048	0.638
18	39647475	C	G	18	42067511	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.C2647G:p.Q883E;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.C181G:p.Q61E;ENSG00000078142:ENST00000262039:exon24:c.C2647G:p.Q883E;ENSG00000078142:ENST00000593098:exon11:c.C1102G:p.Q368E;ENSG00000078142:ENST00000398870:exon23:c.C2458G:p.Q820E;ENSG00000078142:ENST00000588156:exon3:c.C319G:p.Q107E;	0.455270620422828	0.464
18	39647475	C	T	18	42067511	y	y	exonic	PIK3C3	stopgain SNV	PIK3C3:NM_002647:exon24:c.C2647T:p.Q883X;	exonic	ENSG00000078142	stopgain SNV	ENSG00000078142:ENST00000587328:exon2:c.C181T:p.Q61X;ENSG00000078142:ENST00000262039:exon24:c.C2647T:p.Q883X;ENSG00000078142:ENST00000593098:exon11:c.C1102T:p.Q368X;ENSG00000078142:ENST00000398870:exon23:c.C2458T:p.Q820X;ENSG00000078142:ENST00000588156:exon3:c.C319T:p.Q107X;	0.971248339705842	0.616
18	39647476	A	C	18	42067512	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.A2648C:p.Q883P;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.A182C:p.Q61P;ENSG00000078142:ENST00000262039:exon24:c.A2648C:p.Q883P;ENSG00000078142:ENST00000593098:exon11:c.A1103C:p.Q368P;ENSG00000078142:ENST00000398870:exon23:c.A2459C:p.Q820P;ENSG00000078142:ENST00000588156:exon3:c.A320C:p.Q107P;	0.991688260757889	0.708
18	39647476	A	G	18	42067512	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.A2648G:p.Q883R;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.A182G:p.Q61R;ENSG00000078142:ENST00000262039:exon24:c.A2648G:p.Q883R;ENSG00000078142:ENST00000593098:exon11:c.A1103G:p.Q368R;ENSG00000078142:ENST00000398870:exon23:c.A2459G:p.Q820R;ENSG00000078142:ENST00000588156:exon3:c.A320G:p.Q107R;	0.988517025307958	0.692
18	39647476	A	T	18	42067512	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.A2648T:p.Q883L;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.A182T:p.Q61L;ENSG00000078142:ENST00000262039:exon24:c.A2648T:p.Q883L;ENSG00000078142:ENST00000593098:exon11:c.A1103T:p.Q368L;ENSG00000078142:ENST00000398870:exon23:c.A2459T:p.Q820L;ENSG00000078142:ENST00000588156:exon3:c.A320T:p.Q107L;	0.988477953037072	0.618
18	39647477	G	A	18	42067513	y	y	exonic	PIK3C3	synonymous SNV	PIK3C3:NM_002647:exon24:c.G2649A:p.Q883Q;	exonic	ENSG00000078142	synonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.G183A:p.Q61Q;ENSG00000078142:ENST00000262039:exon24:c.G2649A:p.Q883Q;ENSG00000078142:ENST00000593098:exon11:c.G1104A:p.Q368Q;ENSG00000078142:ENST00000398870:exon23:c.G2460A:p.Q820Q;ENSG00000078142:ENST00000588156:exon3:c.G321A:p.Q107Q;	0.788117207367542	0.524
18	39647477	G	C	18	42067513	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.G2649C:p.Q883H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.G183C:p.Q61H;ENSG00000078142:ENST00000262039:exon24:c.G2649C:p.Q883H;ENSG00000078142:ENST00000593098:exon11:c.G1104C:p.Q368H;ENSG00000078142:ENST00000398870:exon23:c.G2460C:p.Q820H;ENSG00000078142:ENST00000588156:exon3:c.G321C:p.Q107H;	0.998561055071187	0.89
18	39647477	G	T	18	42067513	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon24:c.G2649T:p.Q883H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon2:c.G183T:p.Q61H;ENSG00000078142:ENST00000262039:exon24:c.G2649T:p.Q883H;ENSG00000078142:ENST00000593098:exon11:c.G1104T:p.Q368H;ENSG00000078142:ENST00000398870:exon23:c.G2460T:p.Q820H;ENSG00000078142:ENST00000588156:exon3:c.G321T:p.Q107H;	0.995842968698399	0.802
18	39647478	G	A	18	42067514	y	y	splicing	PIK3C3(NM_002647:exon24:c.2649+1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2649+1G>A;ENST00000398870:exon23:c.2460+1G>A;ENST00000593098:exon11:c.1104+1G>A;ENST00000588156:exon3:c.321+1G>A;ENST00000587328:exon2:c.183+1G>A)	.	.	0.999988247793601	0.93
18	39647478	G	C	18	42067514	y	y	splicing	PIK3C3(NM_002647:exon24:c.2649+1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2649+1G>C;ENST00000398870:exon23:c.2460+1G>C;ENST00000593098:exon11:c.1104+1G>C;ENST00000588156:exon3:c.321+1G>C;ENST00000587328:exon2:c.183+1G>C)	.	.	0.999988247793601	0.93
18	39647478	G	T	18	42067514	y	y	splicing	PIK3C3(NM_002647:exon24:c.2649+1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2649+1G>T;ENST00000398870:exon23:c.2460+1G>T;ENST00000593098:exon11:c.1104+1G>T;ENST00000588156:exon3:c.321+1G>T;ENST00000587328:exon2:c.183+1G>T)	.	.	0.999988247793601	0.93
18	39647479	T	A	18	42067515	y	y	splicing	PIK3C3(NM_002647:exon24:c.2649+2T>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2649+2T>A;ENST00000398870:exon23:c.2460+2T>A;ENST00000593098:exon11:c.1104+2T>A;ENST00000588156:exon3:c.321+2T>A;ENST00000587328:exon2:c.183+2T>A)	.	.	0.999988307841649	0.92
18	39647479	T	C	18	42067515	y	y	splicing	PIK3C3(NM_002647:exon24:c.2649+2T>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2649+2T>C;ENST00000398870:exon23:c.2460+2T>C;ENST00000593098:exon11:c.1104+2T>C;ENST00000588156:exon3:c.321+2T>C;ENST00000587328:exon2:c.183+2T>C)	.	.	0.982000178184852	0.566
18	39647479	T	G	18	42067515	y	y	splicing	PIK3C3(NM_002647:exon24:c.2649+2T>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon24:c.2649+2T>G;ENST00000398870:exon23:c.2460+2T>G;ENST00000593098:exon11:c.1104+2T>G;ENST00000588156:exon3:c.321+2T>G;ENST00000587328:exon2:c.183+2T>G)	.	.	0.999988307841649	0.92
18	39647480	A	C	18	42067516	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.37133014747686	0.568
18	39647480	A	G	18	42067516	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	3.07474629423629E-4	0.028
18	39647480	A	T	18	42067516	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.267214970233084	0.602
18	39647481	A	C	18	42067517	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.198439471304324	0.322
18	39647481	A	G	18	42067517	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.409500678615196	0.446
18	39647481	A	T	18	42067517	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.243067576558988	0.3
18	39647482	G	A	18	42067518	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.56724971122808	0.656
18	39647482	G	C	18	42067518	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.770357574495154	0.574
18	39647482	G	T	18	42067518	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.883922625591962	0.638
18	39647483	T	A	18	42067519	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.019666010106777	0.32
18	39647483	T	C	18	42067519	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.195180685655827	0.328
18	39647483	T	G	18	42067519	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00512354045155492	0.222
18	39647484	T	A	18	42067520	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.66107858676095E-5	0.0
18	39647484	T	C	18	42067520	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.46619449921589E-5	0.0
18	39647484	T	G	18	42067520	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.89105481765346E-5	0.0
18	39647485	C	A	18	42067521	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.46039206459424E-4	0.004
18	39647485	C	G	18	42067521	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.46039206459424E-4	0.006
18	39647485	C	T	18	42067521	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.46039206459424E-4	0.004
18	39661075	T	A	18	42081111	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.940949851074649	0.658
18	39661075	T	C	18	42081111	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	9.69015311107517E-5	0.018
18	39661075	T	G	18	42081111	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.42263173043567	0.442
18	39661076	A	C	18	42081112	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0654445120652541	0.284
18	39661076	A	G	18	42081112	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0172563814660163	0.206
18	39661076	A	T	18	42081112	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.022699093489601	0.358
18	39661077	A	C	18	42081113	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00526279271418407	0.088
18	39661077	A	G	18	42081113	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.997845920099487	0.944
18	39661077	A	T	18	42081113	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00423905063484366	0.17
18	39661078	T	A	18	42081114	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.793404446284189	0.604
18	39661078	T	C	18	42081114	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	7.37294986664313E-4	0.08
18	39661078	T	G	18	42081114	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999952048597799	0.97
18	39661079	T	A	18	42081115	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.946025202365282	0.698
18	39661079	T	C	18	42081115	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00171201673824045	0.026
18	39661079	T	G	18	42081115	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.948481047072277	0.668
18	39661080	T	A	18	42081116	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.9712402328372	0.57
18	39661080	T	C	18	42081116	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0031856948504389	0.146
18	39661080	T	G	18	42081116	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.946596151859714	0.57
18	39661081	T	A	18	42081117	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.978277938372454	0.758
18	39661081	T	C	18	42081117	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.00151085015930901	0.024
18	39661081	T	G	18	42081117	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.886338103402373	0.732
18	39661082	T	A	18	42081118	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.999942165478211	0.972
18	39661082	T	C	18	42081118	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.3398224024961E-4	0.038
18	39661082	T	G	18	42081118	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.966272295785108	0.606
18	39661083	G	A	18	42081119	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	2.48755550433551E-5	0.0
18	39661083	G	C	18	42081119	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.57035158113453E-5	0.0
18	39661083	G	T	18	42081119	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	5.82736167629418E-5	0.002
18	39661084	T	A	18	42081120	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.0407766711353601	0.298
18	39661084	T	C	18	42081120	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	4.83023638600747E-5	0.01
18	39661084	T	G	18	42081120	y	y	intronic	PIK3C3	.	.	intronic	ENSG00000078142	.	.	0.998297066131122	0.782
18	39661085	A	C	18	42081121	y	y	splicing	PIK3C3(NM_002647:exon25:c.2650-2A>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon25:c.2650-2A>C;ENST00000398870:exon24:c.2461-2A>C;ENST00000593098:exon12:c.1105-2A>C;ENST00000588156:exon4:c.322-2A>C;ENST00000587328:exon3:c.184-2A>C)	.	.	0.999988247793601	0.928
18	39661085	A	G	18	42081121	y	y	splicing	PIK3C3(NM_002647:exon25:c.2650-2A>G)	.	.	splicing	ENSG00000078142(ENST00000262039:exon25:c.2650-2A>G;ENST00000398870:exon24:c.2461-2A>G;ENST00000593098:exon12:c.1105-2A>G;ENST00000588156:exon4:c.322-2A>G;ENST00000587328:exon3:c.184-2A>G)	.	.	0.999988247793601	0.928
18	39661085	A	T	18	42081121	y	y	splicing	PIK3C3(NM_002647:exon25:c.2650-2A>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon25:c.2650-2A>T;ENST00000398870:exon24:c.2461-2A>T;ENST00000593098:exon12:c.1105-2A>T;ENST00000588156:exon4:c.322-2A>T;ENST00000587328:exon3:c.184-2A>T)	.	.	0.999988247793601	0.928
18	39661086	G	A	18	42081122	y	y	splicing	PIK3C3(NM_002647:exon25:c.2650-1G>A)	.	.	splicing	ENSG00000078142(ENST00000262039:exon25:c.2650-1G>A;ENST00000398870:exon24:c.2461-1G>A;ENST00000593098:exon12:c.1105-1G>A;ENST00000588156:exon4:c.322-1G>A;ENST00000587328:exon3:c.184-1G>A)	.	.	0.999985532734767	0.936
18	39661086	G	C	18	42081122	y	y	splicing	PIK3C3(NM_002647:exon25:c.2650-1G>C)	.	.	splicing	ENSG00000078142(ENST00000262039:exon25:c.2650-1G>C;ENST00000398870:exon24:c.2461-1G>C;ENST00000593098:exon12:c.1105-1G>C;ENST00000588156:exon4:c.322-1G>C;ENST00000587328:exon3:c.184-1G>C)	.	.	0.999985532734767	0.936
18	39661086	G	T	18	42081122	y	y	splicing	PIK3C3(NM_002647:exon25:c.2650-1G>T)	.	.	splicing	ENSG00000078142(ENST00000262039:exon25:c.2650-1G>T;ENST00000398870:exon24:c.2461-1G>T;ENST00000593098:exon12:c.1105-1G>T;ENST00000588156:exon4:c.322-1G>T;ENST00000587328:exon3:c.184-1G>T)	.	.	0.999985532734767	0.936
18	39661087	T	A	18	42081123	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon25:c.T2650A:p.Y884N;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon3:c.T184A:p.Y62N;ENSG00000078142:ENST00000262039:exon25:c.T2650A:p.Y884N;ENSG00000078142:ENST00000593098:exon12:c.T1105A:p.Y369N;ENSG00000078142:ENST00000398870:exon24:c.T2461A:p.Y821N;ENSG00000078142:ENST00000588156:exon4:c.T322A:p.Y108N;	0.547037427404471	0.672
18	39661087	T	C	18	42081123	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon25:c.T2650C:p.Y884H;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon3:c.T184C:p.Y62H;ENSG00000078142:ENST00000262039:exon25:c.T2650C:p.Y884H;ENSG00000078142:ENST00000593098:exon12:c.T1105C:p.Y369H;ENSG00000078142:ENST00000398870:exon24:c.T2461C:p.Y821H;ENSG00000078142:ENST00000588156:exon4:c.T322C:p.Y108H;	0.727686107622059	0.636
18	39661087	T	G	18	42081123	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon25:c.T2650G:p.Y884D;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon3:c.T184G:p.Y62D;ENSG00000078142:ENST00000262039:exon25:c.T2650G:p.Y884D;ENSG00000078142:ENST00000593098:exon12:c.T1105G:p.Y369D;ENSG00000078142:ENST00000398870:exon24:c.T2461G:p.Y821D;ENSG00000078142:ENST00000588156:exon4:c.T322G:p.Y108D;	0.0729209869275891	0.312
18	39661088	A	C	18	42081124	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon25:c.A2651C:p.Y884S;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon3:c.A185C:p.Y62S;ENSG00000078142:ENST00000262039:exon25:c.A2651C:p.Y884S;ENSG00000078142:ENST00000593098:exon12:c.A1106C:p.Y369S;ENSG00000078142:ENST00000398870:exon24:c.A2462C:p.Y821S;ENSG00000078142:ENST00000588156:exon4:c.A323C:p.Y108S;	0.824099226394985	0.796
18	39661088	A	G	18	42081124	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon25:c.A2651G:p.Y884C;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon3:c.A185G:p.Y62C;ENSG00000078142:ENST00000262039:exon25:c.A2651G:p.Y884C;ENSG00000078142:ENST00000593098:exon12:c.A1106G:p.Y369C;ENSG00000078142:ENST00000398870:exon24:c.A2462G:p.Y821C;ENSG00000078142:ENST00000588156:exon4:c.A323G:p.Y108C;	0.643457496806983	0.476
18	39661088	A	T	18	42081124	y	y	exonic	PIK3C3	nonsynonymous SNV	PIK3C3:NM_002647:exon25:c.A2651T:p.Y884F;	exonic	ENSG00000078142	nonsynonymous SNV	ENSG00000078142:ENST00000587328:exon3:c.A185T:p.Y62F;ENSG00000078142:ENST00000262039:exon25:c.A2651T:p.Y884F;ENSG00000078142:ENST00000593098:exon12:c.A1106T:p.Y369F;ENSG00000078142:ENST00000398870:exon24:c.A2462T:p.Y821F;ENSG00000078142:ENST00000588156:exon4:c.A323T:p.Y108F;	0.143656743352602	0.498
18	40323684	A	C	18	42743719	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_002930:exon5:c.T428G:p.V143G;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon6:c.T490G:p.F164V;ENSG00000152214:ENST00000326695:exon5:c.T428G:p.V143G;	0.173514054252881	0.442
18	40323684	A	G	18	42743719	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_002930:exon5:c.T428C:p.V143A;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon6:c.T490C:p.F164L;ENSG00000152214:ENST00000326695:exon5:c.T428C:p.V143A;	0.266840195798432	0.434
18	40323684	A	T	18	42743719	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_002930:exon5:c.T428A:p.V143D;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon6:c.T490A:p.F164I;ENSG00000152214:ENST00000326695:exon5:c.T428A:p.V143D;	0.173514054252881	0.44
18	40323685	C	A	18	42743720	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_002930:exon5:c.G427T:p.V143F;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon6:c.G489T:p.R163S;ENSG00000152214:ENST00000326695:exon5:c.G427T:p.V143F;	0.99884407598527	0.8
18	40323685	C	G	18	42743720	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_002930:exon5:c.G427C:p.V143L;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon6:c.G489C:p.R163S;ENSG00000152214:ENST00000326695:exon5:c.G427C:p.V143L;	0.998797405806973	0.872
18	40323685	C	T	18	42743720	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_002930:exon5:c.G427A:p.V143I;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000326695:exon5:c.G427A:p.V143I;	0.997695963547652	0.818
18	40323686	C	A	18	42743721	y	y	splicing	RIT2(NM_002930:exon6:c.427-1G>T;NM_001272077:exon7:c.491-1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon7:c.491-1G>T;ENST00000326695:exon6:c.427-1G>T;ENST00000590910:exon7:c.489-1G>T)	.	.	0.999972132855453	0.936
18	40323686	C	G	18	42743721	y	y	splicing	RIT2(NM_002930:exon6:c.427-1G>C;NM_001272077:exon7:c.491-1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon7:c.491-1G>C;ENST00000326695:exon6:c.427-1G>C;ENST00000590910:exon7:c.489-1G>C)	.	.	0.999972132855453	0.948
18	40323686	C	T	18	42743721	y	y	splicing	RIT2(NM_002930:exon6:c.427-1G>A;NM_001272077:exon7:c.491-1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon7:c.491-1G>A;ENST00000326695:exon6:c.427-1G>A;ENST00000590910:exon7:c.489-1G>A)	.	.	0.999971873524385	0.948
18	40323687	T	A	18	42743722	y	y	splicing	RIT2(NM_002930:exon6:c.427-2A>T;NM_001272077:exon7:c.491-2A>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon7:c.491-2A>T;ENST00000326695:exon6:c.427-2A>T;ENST00000590910:exon7:c.489-2A>T)	.	.	0.999966203349492	0.926
18	40323687	T	C	18	42743722	y	y	splicing	RIT2(NM_002930:exon6:c.427-2A>G;NM_001272077:exon7:c.491-2A>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon7:c.491-2A>G;ENST00000326695:exon6:c.427-2A>G;ENST00000590910:exon7:c.489-2A>G)	.	.	0.999966203349492	0.93
18	40323687	T	G	18	42743722	y	y	splicing	RIT2(NM_002930:exon6:c.427-2A>C;NM_001272077:exon7:c.491-2A>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon7:c.491-2A>C;ENST00000326695:exon6:c.427-2A>C;ENST00000590910:exon7:c.489-2A>C)	.	.	0.999966203349492	0.93
18	40323688	A	C	18	42743723	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.996536949606393	0.588
18	40323688	A	G	18	42743723	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.5954639898762E-4	0.05
18	40323688	A	T	18	42743723	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00155538893978177	0.152
18	40323689	A	C	18	42743724	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	8.95145951409719E-5	0.0
18	40323689	A	G	18	42743724	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.67813610074055E-5	0.0
18	40323689	A	T	18	42743724	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.81148272783051E-5	0.0
18	40323690	G	A	18	42743725	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.49741000688541E-4	0.0
18	40323690	G	C	18	42743725	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00282168141305308	0.118
18	40323690	G	T	18	42743725	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00360339157867455	0.092
18	40323691	G	A	18	42743726	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.10951850279151E-4	0.03
18	40323691	G	C	18	42743726	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00115179552380773	0.188
18	40323691	G	T	18	42743726	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	8.8049133925111E-4	0.196
18	40323692	A	C	18	42743727	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.42736952157876E-5	0.002
18	40323692	A	G	18	42743727	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.22433588768222E-5	0.0
18	40323692	A	T	18	42743727	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.58469785617434E-5	0.004
18	40323693	A	C	18	42743728	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.53134287438887E-5	0.042
18	40323693	A	G	18	42743728	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.38923853996243E-5	0.002
18	40323693	A	T	18	42743728	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.46148916536877E-5	0.026
18	40323694	A	C	18	42743729	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.97043600227043E-4	0.088
18	40323694	A	G	18	42743729	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	9.62531495876904E-5	0.006
18	40323694	A	T	18	42743729	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.19867731538579E-4	0.11
18	40323695	A	C	18	42743730	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.74237111689034E-4	0.074
18	40323695	A	G	18	42743730	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.3123897779159E-4	0.008
18	40323695	A	T	18	42743730	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.23477281121866E-4	0.086
18	40323696	A	C	18	42743731	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.74081032926607E-4	0.234
18	40323696	A	G	18	42743731	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00253511035830925	0.028
18	40323696	A	T	18	42743731	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00185567715182015	0.182
18	40323697	A	C	18	42743732	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.70577394277979E-4	0.144
18	40323697	A	G	18	42743732	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.06588938832205E-4	0.054
18	40323697	A	T	18	42743732	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.97337521709764E-4	0.152
18	40500654	A	C	18	42920689	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.2886448328189E-5	0.004
18	40500654	A	G	18	42920689	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.2886448328189E-5	0.004
18	40500654	A	T	18	42920689	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.97728621093963E-5	0.004
18	40500655	T	A	18	42920690	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.89925739660516E-5	0.006
18	40500655	T	C	18	42920690	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.89925739660516E-5	0.004
18	40500655	T	G	18	42920690	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.89925739660516E-5	0.004
18	40500656	T	A	18	42920691	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.01578748569253E-5	0.002
18	40500656	T	C	18	42920691	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.95241758590049E-5	0.002
18	40500656	T	G	18	42920691	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.95241758590049E-5	0.002
18	40500657	C	A	18	42920692	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.68952365742707E-5	0.002
18	40500657	C	G	18	42920692	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.68952365742707E-5	0.004
18	40500657	C	T	18	42920692	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.68952365742707E-5	0.002
18	40500658	T	A	18	42920693	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.48367148474546E-5	0.002
18	40500658	T	C	18	42920693	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.37501361942679E-5	0.002
18	40500658	T	G	18	42920693	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.37501361942679E-5	0.002
18	40500659	T	A	18	42920694	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.80109675654916E-5	0.0
18	40500659	T	C	18	42920694	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.08291490468438E-5	0.096
18	40500659	T	G	18	42920694	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.08291490468438E-5	0.096
18	40500660	A	C	18	42920695	y	y	splicing	RIT2(NM_001272077:exon6:c.490+2T>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.490+2T>G)	.	.	2.6128894829304E-5	0.0
18	40500660	A	G	18	42920695	y	y	splicing	RIT2(NM_001272077:exon6:c.490+2T>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.490+2T>C)	.	.	2.6128894829304E-5	0.0
18	40500660	A	T	18	42920695	y	y	splicing	RIT2(NM_001272077:exon6:c.490+2T>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.490+2T>A)	.	.	2.6128894829304E-5	0.0
18	40500661	C	A	18	42920696	y	y	splicing	RIT2(NM_001272077:exon6:c.490+1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.490+1G>T)	.	.	4.97864243205666E-5	0.0
18	40500661	C	G	18	42920696	y	y	splicing	RIT2(NM_001272077:exon6:c.490+1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.490+1G>C)	.	.	3.22319008290309E-5	0.0
18	40500661	C	T	18	42920696	y	y	splicing	RIT2(NM_001272077:exon6:c.490+1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.490+1G>A)	.	.	4.97864243205666E-5	0.0
18	40500662	C	A	18	42920697	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	4.10529984002121E-5	0.018
18	40500662	C	G	18	42920697	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	3.80465223468383E-5	0.01
18	40500662	C	T	18	42920697	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	8.53292460361593E-5	0.018
18	40500663	A	C	18	42920698	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	0.00163920954224159	0.012
18	40500663	A	G	18	42920698	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	0.00163920954224159	0.012
18	40500663	A	T	18	42920698	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	0.00131227968434435	0.012
18	40500664	A	C	18	42920699	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	3.50312366030491E-5	0.0
18	40500664	A	G	18	42920699	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	3.50312366030491E-5	0.0
18	40500664	A	T	18	42920699	y	y	UTR3	RIT2	.	.	UTR3	ENSG00000152214	.	.	3.50312366030491E-5	0.0
18	40500724	G	A	18	42920759	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon5:c.C428T:p.P143L;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon5:c.C428T:p.P143L;ENSG00000152214:ENST00000589109:exon5:c.C428T:p.P143L;	1.40940918270023E-4	0.0
18	40500724	G	C	18	42920759	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon5:c.C428G:p.P143R;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon5:c.C428G:p.P143R;ENSG00000152214:ENST00000589109:exon5:c.C428G:p.P143R;	1.5982790009972E-4	0.0
18	40500724	G	T	18	42920759	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon5:c.C428A:p.P143H;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon5:c.C428A:p.P143H;ENSG00000152214:ENST00000589109:exon5:c.C428A:p.P143H;	1.03743324618895E-4	0.0
18	40500725	G	A	18	42920760	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon5:c.C427T:p.P143S;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon5:c.C427T:p.P143S;ENSG00000152214:ENST00000589109:exon5:c.C427T:p.P143S;	7.29992609310711E-5	0.018
18	40500725	G	C	18	42920760	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon5:c.C427G:p.P143A;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon5:c.C427G:p.P143A;ENSG00000152214:ENST00000589109:exon5:c.C427G:p.P143A;	5.58255349957421E-5	0.0
18	40500725	G	T	18	42920760	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon5:c.C427A:p.P143T;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon5:c.C427A:p.P143T;ENSG00000152214:ENST00000589109:exon5:c.C427A:p.P143T;	5.58255349957421E-5	0.0
18	40500726	C	A	18	42920761	y	y	splicing	RIT2(NM_001272077:exon6:c.427-1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.427-1G>T;ENST00000282028:exon6:c.427-1G>T)	.	.	3.30338091304305E-5	0.004
18	40500726	C	G	18	42920761	y	y	splicing	RIT2(NM_001272077:exon6:c.427-1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.427-1G>C;ENST00000282028:exon6:c.427-1G>C)	.	.	3.30338091304305E-5	0.004
18	40500726	C	T	18	42920761	y	y	splicing	RIT2(NM_001272077:exon6:c.427-1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.427-1G>A;ENST00000282028:exon6:c.427-1G>A)	.	.	3.30338091304305E-5	0.004
18	40500727	T	A	18	42920762	y	y	splicing	RIT2(NM_001272077:exon6:c.427-2A>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.427-2A>T;ENST00000282028:exon6:c.427-2A>T)	.	.	1.46004206284423E-5	0.002
18	40500727	T	C	18	42920762	y	y	splicing	RIT2(NM_001272077:exon6:c.427-2A>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.427-2A>G;ENST00000282028:exon6:c.427-2A>G)	.	.	1.46004206284423E-5	0.002
18	40500727	T	G	18	42920762	y	y	splicing	RIT2(NM_001272077:exon6:c.427-2A>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon6:c.427-2A>C;ENST00000282028:exon6:c.427-2A>C)	.	.	1.46004206284423E-5	0.002
18	40500728	G	A	18	42920763	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.91754950667398E-5	0.0
18	40500728	G	C	18	42920763	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.24141468798328E-5	0.004
18	40500728	G	T	18	42920763	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.91754950667398E-5	0.0
18	40500729	A	C	18	42920764	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.30797948580485E-5	0.026
18	40500729	A	G	18	42920764	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.30797948580485E-5	0.026
18	40500729	A	T	18	42920764	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.56499665926734E-5	0.038
18	40500730	T	A	18	42920765	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.45277156108894E-5	0.0
18	40500730	T	C	18	42920765	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.45277156108894E-5	0.0
18	40500730	T	G	18	42920765	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.45277156108894E-5	0.0
18	40500731	A	C	18	42920766	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.40148198700121E-5	0.024
18	40500731	A	G	18	42920766	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.40148198700121E-5	0.016
18	40500731	A	T	18	42920766	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.78716126261033E-5	0.0
18	40500732	A	C	18	42920767	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.08788427788342E-5	0.0
18	40500732	A	G	18	42920767	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.08788427788342E-5	0.0
18	40500732	A	T	18	42920767	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.1738525533333E-5	0.0
18	40500733	G	A	18	42920768	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.01163773767764E-5	0.0
18	40500733	G	C	18	42920768	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.86431456331734E-5	0.0
18	40500733	G	T	18	42920768	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.86431456331734E-5	0.0
18	40500734	G	A	18	42920769	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.86590924201456E-5	0.0
18	40500734	G	C	18	42920769	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.84397551808994E-5	0.01
18	40500734	G	T	18	42920769	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.86590924201456E-5	0.002
18	40500735	A	C	18	42920770	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.2315363797163E-5	0.0
18	40500735	A	G	18	42920770	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.2315363797163E-5	0.0
18	40500735	A	T	18	42920770	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.2315363797163E-5	0.0
18	40500736	A	C	18	42920771	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.97552862615456E-6	0.0
18	40500736	A	G	18	42920771	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.97552862615456E-6	0.0
18	40500736	A	T	18	42920771	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.97552862615456E-6	0.0
18	40500737	T	A	18	42920772	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.45170072801036E-5	0.014
18	40500737	T	C	18	42920772	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.45170072801036E-5	0.014
18	40500737	T	G	18	42920772	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.45170072801036E-5	0.014
18	40503529	G	A	18	42923564	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.41915089721883E-4	0.036
18	40503529	G	C	18	42923564	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.36573570725999E-4	0.028
18	40503529	G	T	18	42923564	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.41915089721883E-4	0.05
18	40503530	C	A	18	42923565	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0338964425895374	0.058
18	40503530	C	G	18	42923565	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0112107468496572	0.078
18	40503530	C	T	18	42923565	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0338964425895374	0.068
18	40503531	A	C	18	42923566	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0293301007994674	0.216
18	40503531	A	G	18	42923566	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.100884971672567	0.332
18	40503531	A	T	18	42923566	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0653960585734645	0.424
18	40503532	C	A	18	42923567	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.997792263338874	0.82
18	40503532	C	G	18	42923567	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.997298798490494	0.902
18	40503532	C	T	18	42923567	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.998841879948341	0.906
18	40503533	T	A	18	42923568	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.6289491013221	0.446
18	40503533	T	C	18	42923568	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.703895476287755	0.432
18	40503533	T	G	18	42923568	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.112447501972083	0.212
18	40503534	C	A	18	42923569	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0133002649921678	0.362
18	40503534	C	G	18	42923569	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00628227055140769	0.274
18	40503534	C	T	18	42923569	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	8.27288299478136E-5	0.0
18	40503535	A	C	18	42923570	y	y	splicing	RIT2(NM_002930:exon5:c.426+2T>G;NM_001272077:exon5:c.426+2T>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.426+2T>G;ENST00000326695:exon5:c.426+2T>G;ENST00000590910:exon6:c.488+2T>G;ENST00000282028:exon5:c.426+2T>G)	.	.	0.999989917668626	0.928
18	40503535	A	G	18	42923570	y	y	splicing	RIT2(NM_002930:exon5:c.426+2T>C;NM_001272077:exon5:c.426+2T>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.426+2T>C;ENST00000326695:exon5:c.426+2T>C;ENST00000590910:exon6:c.488+2T>C;ENST00000282028:exon5:c.426+2T>C)	.	.	0.999939711763648	0.856
18	40503535	A	T	18	42923570	y	y	splicing	RIT2(NM_002930:exon5:c.426+2T>A;NM_001272077:exon5:c.426+2T>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.426+2T>A;ENST00000326695:exon5:c.426+2T>A;ENST00000590910:exon6:c.488+2T>A;ENST00000282028:exon5:c.426+2T>A)	.	.	0.999989917668626	0.928
18	40503536	C	A	18	42923571	y	y	splicing	RIT2(NM_002930:exon5:c.426+1G>T;NM_001272077:exon5:c.426+1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.426+1G>T;ENST00000326695:exon5:c.426+1G>T;ENST00000590910:exon6:c.488+1G>T;ENST00000282028:exon5:c.426+1G>T)	.	.	0.999976206550861	0.926
18	40503536	C	G	18	42923571	y	y	splicing	RIT2(NM_002930:exon5:c.426+1G>C;NM_001272077:exon5:c.426+1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.426+1G>C;ENST00000326695:exon5:c.426+1G>C;ENST00000590910:exon6:c.488+1G>C;ENST00000282028:exon5:c.426+1G>C)	.	.	0.999976206550861	0.924
18	40503536	C	T	18	42923571	y	y	splicing	RIT2(NM_002930:exon5:c.426+1G>A;NM_001272077:exon5:c.426+1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.426+1G>A;ENST00000326695:exon5:c.426+1G>A;ENST00000590910:exon6:c.488+1G>A;ENST00000282028:exon5:c.426+1G>A)	.	.	0.999976206550861	0.926
18	40503537	C	A	18	42923572	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.G426T:p.Q142H;RIT2:NM_002930:exon4:c.G426T:p.Q142H;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.G488T:p.R163M;ENSG00000152214:ENST00000282028:exon4:c.G426T:p.Q142H;ENSG00000152214:ENST00000326695:exon4:c.G426T:p.Q142H;ENSG00000152214:ENST00000589109:exon4:c.G426T:p.Q142H;	0.999294311222303	0.874
18	40503537	C	G	18	42923572	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.G426C:p.Q142H;RIT2:NM_002930:exon4:c.G426C:p.Q142H;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.G488C:p.R163T;ENSG00000152214:ENST00000282028:exon4:c.G426C:p.Q142H;ENSG00000152214:ENST00000326695:exon4:c.G426C:p.Q142H;ENSG00000152214:ENST00000589109:exon4:c.G426C:p.Q142H;	0.999721037284032	0.892
18	40503537	C	T	18	42923572	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon4:c.G426A:p.Q142Q;RIT2:NM_002930:exon4:c.G426A:p.Q142Q;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.G488A:p.R163K;	0.996274713478987	0.752
18	40503538	T	A	18	42923573	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.A425T:p.Q142L;RIT2:NM_002930:exon4:c.A425T:p.Q142L;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.A487T:p.R163W;ENSG00000152214:ENST00000282028:exon4:c.A425T:p.Q142L;ENSG00000152214:ENST00000326695:exon4:c.A425T:p.Q142L;ENSG00000152214:ENST00000589109:exon4:c.A425T:p.Q142L;	0.99123913077699	0.832
18	40503538	T	C	18	42923573	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.A425G:p.Q142R;RIT2:NM_002930:exon4:c.A425G:p.Q142R;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.A487G:p.R163G;ENSG00000152214:ENST00000282028:exon4:c.A425G:p.Q142R;ENSG00000152214:ENST00000326695:exon4:c.A425G:p.Q142R;ENSG00000152214:ENST00000589109:exon4:c.A425G:p.Q142R;	0.986523861786651	0.964
18	40503538	T	G	18	42923573	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.A425C:p.Q142P;RIT2:NM_002930:exon4:c.A425C:p.Q142P;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon4:c.A425C:p.Q142P;ENSG00000152214:ENST00000326695:exon4:c.A425C:p.Q142P;ENSG00000152214:ENST00000589109:exon4:c.A425C:p.Q142P;	0.989669828017497	0.83
18	40503539	G	A	18	42923574	y	y	exonic	RIT2	stopgain SNV	RIT2:NM_001272077:exon4:c.C424T:p.Q142X;RIT2:NM_002930:exon4:c.C424T:p.Q142X;	exonic	ENSG00000152214	stopgain SNV	ENSG00000152214:ENST00000282028:exon4:c.C424T:p.Q142X;ENSG00000152214:ENST00000326695:exon4:c.C424T:p.Q142X;ENSG00000152214:ENST00000589109:exon4:c.C424T:p.Q142X;	0.995204896890989	0.74
18	40503539	G	C	18	42923574	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.C424G:p.Q142E;RIT2:NM_002930:exon4:c.C424G:p.Q142E;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon4:c.C424G:p.Q142E;ENSG00000152214:ENST00000326695:exon4:c.C424G:p.Q142E;ENSG00000152214:ENST00000589109:exon4:c.C424G:p.Q142E;	0.00162757597052229	0.078
18	40503539	G	T	18	42923574	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.C424A:p.Q142K;RIT2:NM_002930:exon4:c.C424A:p.Q142K;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon4:c.C424A:p.Q142K;ENSG00000152214:ENST00000326695:exon4:c.C424A:p.Q142K;ENSG00000152214:ENST00000589109:exon4:c.C424A:p.Q142K;	0.00907640803918328	0.09
18	40503727	G	A	18	42923762	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.C236T:p.A79V;RIT2:NM_002930:exon4:c.C236T:p.A79V;	exonic	ENSG00000152214	stopgain SNV	ENSG00000152214:ENST00000590910:exon5:c.C298T:p.Q100X;	0.98347897803565	0.854
18	40503727	G	C	18	42923762	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.C236G:p.A79G;RIT2:NM_002930:exon4:c.C236G:p.A79G;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.C298G:p.Q100E;ENSG00000152214:ENST00000282028:exon4:c.C236G:p.A79G;ENSG00000152214:ENST00000326695:exon4:c.C236G:p.A79G;ENSG00000152214:ENST00000589109:exon4:c.C236G:p.A79G;	0.984334498450691	0.802
18	40503727	G	T	18	42923762	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.C236A:p.A79E;RIT2:NM_002930:exon4:c.C236A:p.A79E;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.C298A:p.Q100K;ENSG00000152214:ENST00000282028:exon4:c.C236A:p.A79E;ENSG00000152214:ENST00000326695:exon4:c.C236A:p.A79E;ENSG00000152214:ENST00000589109:exon4:c.C236A:p.A79E;	0.0833934641830958	0.174
18	40503728	C	A	18	42923763	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.G235T:p.A79S;RIT2:NM_002930:exon4:c.G235T:p.A79S;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.G297T:p.K99N;ENSG00000152214:ENST00000282028:exon4:c.G235T:p.A79S;ENSG00000152214:ENST00000326695:exon4:c.G235T:p.A79S;ENSG00000152214:ENST00000589109:exon4:c.G235T:p.A79S;	0.998436373287156	0.77
18	40503728	C	G	18	42923763	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.G235C:p.A79P;RIT2:NM_002930:exon4:c.G235C:p.A79P;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon5:c.G297C:p.K99N;ENSG00000152214:ENST00000282028:exon4:c.G235C:p.A79P;ENSG00000152214:ENST00000326695:exon4:c.G235C:p.A79P;ENSG00000152214:ENST00000589109:exon4:c.G235C:p.A79P;	0.998206258898714	0.78
18	40503728	C	T	18	42923763	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon4:c.G235A:p.A79T;RIT2:NM_002930:exon4:c.G235A:p.A79T;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000282028:exon4:c.G235A:p.A79T;ENSG00000152214:ENST00000326695:exon4:c.G235A:p.A79T;ENSG00000152214:ENST00000589109:exon4:c.G235A:p.A79T;	0.997304462678989	0.736
18	40503729	C	A	18	42923764	y	y	splicing	RIT2(NM_002930:exon5:c.235-1G>T;NM_001272077:exon5:c.235-1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.235-1G>T;ENST00000326695:exon5:c.235-1G>T;ENST00000590910:exon6:c.297-1G>T;ENST00000282028:exon5:c.235-1G>T)	.	.	0.999990361384395	0.938
18	40503729	C	G	18	42923764	y	y	splicing	RIT2(NM_002930:exon5:c.235-1G>C;NM_001272077:exon5:c.235-1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.235-1G>C;ENST00000326695:exon5:c.235-1G>C;ENST00000590910:exon6:c.297-1G>C;ENST00000282028:exon5:c.235-1G>C)	.	.	0.999990361384395	0.938
18	40503729	C	T	18	42923764	y	y	splicing	RIT2(NM_002930:exon5:c.235-1G>A;NM_001272077:exon5:c.235-1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.235-1G>A;ENST00000326695:exon5:c.235-1G>A;ENST00000590910:exon6:c.297-1G>A;ENST00000282028:exon5:c.235-1G>A)	.	.	0.999990361384395	0.938
18	40503730	T	A	18	42923765	y	y	splicing	RIT2(NM_002930:exon5:c.235-2A>T;NM_001272077:exon5:c.235-2A>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.235-2A>T;ENST00000326695:exon5:c.235-2A>T;ENST00000590910:exon6:c.297-2A>T;ENST00000282028:exon5:c.235-2A>T)	.	.	0.999986607513753	0.92
18	40503730	T	C	18	42923765	y	y	splicing	RIT2(NM_002930:exon5:c.235-2A>G;NM_001272077:exon5:c.235-2A>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.235-2A>G;ENST00000326695:exon5:c.235-2A>G;ENST00000590910:exon6:c.297-2A>G;ENST00000282028:exon5:c.235-2A>G)	.	.	0.999986607513753	0.92
18	40503730	T	G	18	42923765	y	y	splicing	RIT2(NM_002930:exon5:c.235-2A>C;NM_001272077:exon5:c.235-2A>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon5:c.235-2A>C;ENST00000326695:exon5:c.235-2A>C;ENST00000590910:exon6:c.297-2A>C;ENST00000282028:exon5:c.235-2A>C)	.	.	0.999986607513753	0.92
18	40503731	G	A	18	42923766	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0506702443282601	0.238
18	40503731	G	C	18	42923766	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.99950307219089	0.82
18	40503731	G	T	18	42923766	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.770390155566129	0.604
18	40503732	C	A	18	42923767	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.43032352346866E-5	0.004
18	40503732	C	G	18	42923767	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.03732438446427E-5	0.008
18	40503732	C	T	18	42923767	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.07889689717795E-4	0.0
18	40503733	A	C	18	42923768	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.45553945621824E-4	0.172
18	40503733	A	G	18	42923768	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.72732949033213E-4	0.01
18	40503733	A	T	18	42923768	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.738151547769608	0.564
18	40503734	G	A	18	42923769	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.28745565485606E-5	0.004
18	40503734	G	C	18	42923769	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.15300869351924E-4	0.09
18	40503734	G	T	18	42923769	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.98417155741363E-4	0.06
18	40503735	G	A	18	42923770	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.42363516425837E-5	0.016
18	40503735	G	C	18	42923770	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.1805642778604E-5	0.04
18	40503735	G	T	18	42923770	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	9.20051686631063E-5	0.094
18	40503736	A	C	18	42923771	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.79859508297599E-5	0.014
18	40503736	A	G	18	42923771	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.33756626898491E-5	0.0
18	40503736	A	T	18	42923771	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.50844292421439E-5	0.01
18	40503737	A	C	18	42923772	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.08400892532809E-4	0.036
18	40503737	A	G	18	42923772	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.59998247265829E-5	0.024
18	40503737	A	T	18	42923772	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.19640243037064E-4	0.014
18	40503738	A	C	18	42923773	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.47234525567427E-5	0.058
18	40503738	A	G	18	42923773	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.70739376158352E-5	0.0
18	40503738	A	T	18	42923773	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.87050423616363E-4	0.032
18	40503739	A	C	18	42923774	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.29068485175771E-4	0.238
18	40503739	A	G	18	42923774	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.76318091360536E-4	0.02
18	40503739	A	T	18	42923774	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.05307649081315E-4	0.202
18	40503740	A	C	18	42923775	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.51891141248318E-5	0.042
18	40503740	A	G	18	42923775	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.16424967029333E-5	0.002
18	40503740	A	T	18	42923775	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.64218534015083E-5	0.014
18	40528944	C	A	18	42948979	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.77967362305631E-5	0.002
18	40528944	C	G	18	42948979	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.77967362305631E-5	0.002
18	40528944	C	T	18	42948979	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.77967362305631E-5	0.002
18	40528945	A	C	18	42948980	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.77506818235143E-4	0.002
18	40528945	A	G	18	42948980	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.77506818235143E-4	0.004
18	40528945	A	T	18	42948980	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.821824429032E-4	0.002
18	40528946	A	C	18	42948981	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.24975915077222E-5	0.0
18	40528946	A	G	18	42948981	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.1020973109669E-5	0.0
18	40528946	A	T	18	42948981	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.24975915077222E-5	0.0
18	40528947	C	A	18	42948982	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00175895170702594	0.038
18	40528947	C	G	18	42948982	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00175895170702594	0.038
18	40528947	C	T	18	42948982	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00233917079244222	0.038
18	40528948	T	A	18	42948983	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.5908222467397E-5	0.002
18	40528948	T	C	18	42948983	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.455930068921E-5	0.002
18	40528948	T	G	18	42948983	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.455930068921E-5	0.002
18	40528949	T	A	18	42948984	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.3994564522384E-5	0.008
18	40528949	T	C	18	42948984	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.3994564522384E-5	0.008
18	40528949	T	G	18	42948984	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.3994564522384E-5	0.008
18	40528950	A	C	18	42948985	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.296+2T>G)	.	.	0.00245719096652081	0.01
18	40528950	A	G	18	42948985	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.296+2T>C)	.	.	0.00245719096652081	0.01
18	40528950	A	T	18	42948985	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.296+2T>A)	.	.	0.00355778535479025	0.012
18	40528951	C	A	18	42948986	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.296+1G>T)	.	.	1.40244684246139E-4	0.014
18	40528951	C	G	18	42948986	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.296+1G>C)	.	.	1.40244684246139E-4	0.014
18	40528951	C	T	18	42948986	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.296+1G>A)	.	.	2.37866636152135E-4	0.014
18	40528952	T	A	18	42948987	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.A296T:p.K99M;	0.00355778535479025	0.008
18	40528952	T	C	18	42948987	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.A296G:p.K99R;	0.0027300227253325	0.01
18	40528952	T	G	18	42948987	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.A296C:p.K99T;	0.0027300227253325	0.012
18	40528953	T	A	18	42948988	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	stopgain SNV	ENSG00000152214:ENST00000590910:exon4:c.A295T:p.K99X;	5.80793394726513E-5	0.008
18	40528953	T	C	18	42948988	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.A295G:p.K99E;	5.80793394726513E-5	0.008
18	40528953	T	G	18	42948988	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.A295C:p.K99Q;	5.80793394726513E-5	0.008
18	40528954	T	A	18	42948989	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.A294T:p.E98D;	6.32453383485143E-5	0.0
18	40528954	T	C	18	42948989	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.A294G:p.E98E;	4.40039963772197E-5	0.0
18	40528954	T	G	18	42948989	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.A294C:p.E98D;	4.40039963772197E-5	0.0
18	40529012	A	C	18	42949047	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.T236G:p.L79R;	0.936299306359579	0.862
18	40529012	A	G	18	42949047	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.T236C:p.L79P;	0.936299306359579	0.862
18	40529012	A	T	18	42949047	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.T236A:p.L79Q;	0.936299306359579	0.858
18	40529013	G	A	18	42949048	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.C235T:p.L79L;	0.993824108016147	0.934
18	40529013	G	C	18	42949048	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.C235G:p.L79V;	0.992857727243738	0.926
18	40529013	G	T	18	42949048	n	y	intronic	RIT2	.	.	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon4:c.C235A:p.L79M;	0.992857727243738	0.926
18	40529014	C	A	18	42949049	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.235-1G>T)	.	.	0.992857727243738	0.926
18	40529014	C	G	18	42949049	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.235-1G>C)	.	.	0.992857727243738	0.926
18	40529014	C	T	18	42949049	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.235-1G>A)	.	.	0.993824108016147	0.934
18	40529015	T	A	18	42949050	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.235-2A>T)	.	.	0.936299306359579	0.858
18	40529015	T	C	18	42949050	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.235-2A>G)	.	.	0.936299306359579	0.864
18	40529015	T	G	18	42949050	n	y	intronic	RIT2	.	.	splicing	ENSG00000152214(ENST00000590910:exon5:c.235-2A>C)	.	.	0.936299306359579	0.864
18	40529016	G	A	18	42949051	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.506078195514587	0.63
18	40529016	G	C	18	42949051	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.533171181396742	0.614
18	40529016	G	T	18	42949051	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.506078195514587	0.616
18	40529017	G	A	18	42949052	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.994463269283841	0.93
18	40529017	G	C	18	42949052	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.994463269283841	0.922
18	40529017	G	T	18	42949052	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.994463269283841	0.928
18	40529018	G	A	18	42949053	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.45611331169849	0.59
18	40529018	G	C	18	42949053	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.45611331169849	0.598
18	40529018	G	T	18	42949053	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.45611331169849	0.59
18	40529019	G	A	18	42949054	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.995030058536757	0.894
18	40529019	G	C	18	42949054	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.995876797705294	0.864
18	40529019	G	T	18	42949054	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.995030058536757	0.888
18	40529020	A	C	18	42949055	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.924282330812132	0.744
18	40529020	A	G	18	42949055	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.924282330812132	0.744
18	40529020	A	T	18	42949055	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.943420802424773	0.794
18	40529021	G	A	18	42949056	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.416562255773641	0.486
18	40529021	G	C	18	42949056	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.347411044059982	0.474
18	40529021	G	T	18	42949056	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.390063873531156	0.47
18	40529022	A	C	18	42949057	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.41623379024242E-4	0.052
18	40529022	A	G	18	42949057	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.41623379024242E-4	0.036
18	40529022	A	T	18	42949057	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.41623379024242E-4	0.076
18	40529023	A	C	18	42949058	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.1164833339216E-4	0.03
18	40529023	A	G	18	42949058	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.1164833339216E-4	0.03
18	40529023	A	T	18	42949058	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.1164833339216E-4	0.028
18	40529024	A	C	18	42949059	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0305896901318045	0.162
18	40529024	A	G	18	42949059	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0305896901318045	0.158
18	40529024	A	T	18	42949059	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0305896901318045	0.162
18	40529025	T	A	18	42949060	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0255974694697583	0.046
18	40529025	T	C	18	42949060	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.018930585655634	0.042
18	40529025	T	G	18	42949060	n	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.018930585655634	0.044
18	40554031	T	A	18	42974066	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00281002635103952	0.068
18	40554031	T	C	18	42974066	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00154142793258515	0.092
18	40554031	T	G	18	42974066	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00932047856465131	0.142
18	40554032	C	A	18	42974067	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.97192349703538E-4	0.018
18	40554032	C	G	18	42974067	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.40527234256799E-4	0.006
18	40554032	C	T	18	42974067	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.69489754178513E-4	0.012
18	40554033	A	C	18	42974068	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00131050155211518	0.11
18	40554033	A	G	18	42974068	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0119198403443262	0.132
18	40554033	A	T	18	42974068	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.006568445762357	0.136
18	40554034	C	A	18	42974069	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.999787319517102	0.918
18	40554034	C	G	18	42974069	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.999725965681245	0.85
18	40554034	C	T	18	42974069	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.981034588709253	0.734
18	40554035	C	A	18	42974070	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.84932215017422E-4	0.024
18	40554035	C	G	18	42974070	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.11463900602872E-4	0.022
18	40554035	C	T	18	42974070	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.13359217425267E-4	0.066
18	40554036	T	A	18	42974071	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.253714489097476	0.53
18	40554036	T	C	18	42974071	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.113159990691472	0.378
18	40554036	T	G	18	42974071	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.787098223387496	0.616
18	40554037	A	C	18	42974072	y	y	splicing	RIT2(NM_002930:exon4:c.234+2T>G;NM_001272077:exon4:c.234+2T>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.234+2T>G;ENST00000326695:exon4:c.234+2T>G;ENST00000590910:exon4:c.234+2T>G;ENST00000282028:exon4:c.234+2T>G)	.	.	0.999988247793601	0.93
18	40554037	A	G	18	42974072	y	y	splicing	RIT2(NM_002930:exon4:c.234+2T>C;NM_001272077:exon4:c.234+2T>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.234+2T>C;ENST00000326695:exon4:c.234+2T>C;ENST00000590910:exon4:c.234+2T>C;ENST00000282028:exon4:c.234+2T>C)	.	.	0.992783534660112	0.676
18	40554037	A	T	18	42974072	y	y	splicing	RIT2(NM_002930:exon4:c.234+2T>A;NM_001272077:exon4:c.234+2T>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.234+2T>A;ENST00000326695:exon4:c.234+2T>A;ENST00000590910:exon4:c.234+2T>A;ENST00000282028:exon4:c.234+2T>A)	.	.	0.999988247793601	0.93
18	40554038	C	A	18	42974073	y	y	splicing	RIT2(NM_002930:exon4:c.234+1G>T;NM_001272077:exon4:c.234+1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.234+1G>T;ENST00000326695:exon4:c.234+1G>T;ENST00000590910:exon4:c.234+1G>T;ENST00000282028:exon4:c.234+1G>T)	.	.	0.999989263107695	0.934
18	40554038	C	G	18	42974073	y	y	splicing	RIT2(NM_002930:exon4:c.234+1G>C;NM_001272077:exon4:c.234+1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.234+1G>C;ENST00000326695:exon4:c.234+1G>C;ENST00000590910:exon4:c.234+1G>C;ENST00000282028:exon4:c.234+1G>C)	.	.	0.999989263107695	0.934
18	40554038	C	T	18	42974073	y	y	splicing	RIT2(NM_002930:exon4:c.234+1G>A;NM_001272077:exon4:c.234+1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.234+1G>A;ENST00000326695:exon4:c.234+1G>A;ENST00000590910:exon4:c.234+1G>A;ENST00000282028:exon4:c.234+1G>A)	.	.	0.999989263107695	0.934
18	40554039	C	A	18	42974074	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.G234T:p.Q78H;RIT2:NM_002930:exon3:c.G234T:p.Q78H;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.G234T:p.Q78H;ENSG00000152214:ENST00000282028:exon3:c.G234T:p.Q78H;ENSG00000152214:ENST00000326695:exon3:c.G234T:p.Q78H;ENSG00000152214:ENST00000589109:exon3:c.G234T:p.Q78H;	0.999888821551556	0.946
18	40554039	C	G	18	42974074	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.G234C:p.Q78H;RIT2:NM_002930:exon3:c.G234C:p.Q78H;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.G234C:p.Q78H;ENSG00000152214:ENST00000282028:exon3:c.G234C:p.Q78H;ENSG00000152214:ENST00000326695:exon3:c.G234C:p.Q78H;ENSG00000152214:ENST00000589109:exon3:c.G234C:p.Q78H;	0.999823774103181	0.918
18	40554039	C	T	18	42974074	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon3:c.G234A:p.Q78Q;RIT2:NM_002930:exon3:c.G234A:p.Q78Q;	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.G234A:p.Q78Q;ENSG00000152214:ENST00000282028:exon3:c.G234A:p.Q78Q;ENSG00000152214:ENST00000326695:exon3:c.G234A:p.Q78Q;ENSG00000152214:ENST00000589109:exon3:c.G234A:p.Q78Q;	0.982207228496317	0.8
18	40554040	T	A	18	42974075	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.A233T:p.Q78L;RIT2:NM_002930:exon3:c.A233T:p.Q78L;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A233T:p.Q78L;ENSG00000152214:ENST00000282028:exon3:c.A233T:p.Q78L;ENSG00000152214:ENST00000326695:exon3:c.A233T:p.Q78L;ENSG00000152214:ENST00000589109:exon3:c.A233T:p.Q78L;	0.999819431354967	0.986
18	40554040	T	C	18	42974075	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.A233G:p.Q78R;RIT2:NM_002930:exon3:c.A233G:p.Q78R;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A233G:p.Q78R;ENSG00000152214:ENST00000282028:exon3:c.A233G:p.Q78R;ENSG00000152214:ENST00000326695:exon3:c.A233G:p.Q78R;ENSG00000152214:ENST00000589109:exon3:c.A233G:p.Q78R;	0.999625189370228	0.992
18	40554040	T	G	18	42974075	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.A233C:p.Q78P;RIT2:NM_002930:exon3:c.A233C:p.Q78P;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A233C:p.Q78P;ENSG00000152214:ENST00000282028:exon3:c.A233C:p.Q78P;ENSG00000152214:ENST00000326695:exon3:c.A233C:p.Q78P;ENSG00000152214:ENST00000589109:exon3:c.A233C:p.Q78P;	0.997515657704235	0.966
18	40554041	G	A	18	42974076	y	y	exonic	RIT2	stopgain SNV	RIT2:NM_001272077:exon3:c.C232T:p.Q78X;RIT2:NM_002930:exon3:c.C232T:p.Q78X;	exonic	ENSG00000152214	stopgain SNV	ENSG00000152214:ENST00000590910:exon3:c.C232T:p.Q78X;ENSG00000152214:ENST00000282028:exon3:c.C232T:p.Q78X;ENSG00000152214:ENST00000326695:exon3:c.C232T:p.Q78X;ENSG00000152214:ENST00000589109:exon3:c.C232T:p.Q78X;	0.997766634007754	0.864
18	40554041	G	C	18	42974076	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.C232G:p.Q78E;RIT2:NM_002930:exon3:c.C232G:p.Q78E;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.C232G:p.Q78E;ENSG00000152214:ENST00000282028:exon3:c.C232G:p.Q78E;ENSG00000152214:ENST00000326695:exon3:c.C232G:p.Q78E;ENSG00000152214:ENST00000589109:exon3:c.C232G:p.Q78E;	0.960190852310589	0.652
18	40554041	G	T	18	42974076	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.C232A:p.Q78K;RIT2:NM_002930:exon3:c.C232A:p.Q78K;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.C232A:p.Q78K;ENSG00000152214:ENST00000282028:exon3:c.C232A:p.Q78K;ENSG00000152214:ENST00000326695:exon3:c.C232A:p.Q78K;ENSG00000152214:ENST00000589109:exon3:c.C232A:p.Q78K;	0.909769579938132	0.828
18	40554111	T	A	18	42974146	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.A162T:p.E54D;RIT2:NM_002930:exon3:c.A162T:p.E54D;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A162T:p.E54D;ENSG00000152214:ENST00000282028:exon3:c.A162T:p.E54D;ENSG00000152214:ENST00000326695:exon3:c.A162T:p.E54D;ENSG00000152214:ENST00000589109:exon3:c.A162T:p.E54D;	0.81351792605172	0.736
18	40554111	T	C	18	42974146	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon3:c.A162G:p.E54E;RIT2:NM_002930:exon3:c.A162G:p.E54E;	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A162G:p.E54E;ENSG00000152214:ENST00000282028:exon3:c.A162G:p.E54E;ENSG00000152214:ENST00000326695:exon3:c.A162G:p.E54E;ENSG00000152214:ENST00000589109:exon3:c.A162G:p.E54E;	0.0152611954166922	0.074
18	40554111	T	G	18	42974146	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.A162C:p.E54D;RIT2:NM_002930:exon3:c.A162C:p.E54D;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A162C:p.E54D;ENSG00000152214:ENST00000282028:exon3:c.A162C:p.E54D;ENSG00000152214:ENST00000326695:exon3:c.A162C:p.E54D;ENSG00000152214:ENST00000589109:exon3:c.A162C:p.E54D;	0.888069208807182	0.822
18	40554112	T	A	18	42974147	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.A161T:p.E54V;RIT2:NM_002930:exon3:c.A161T:p.E54V;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A161T:p.E54V;ENSG00000152214:ENST00000282028:exon3:c.A161T:p.E54V;ENSG00000152214:ENST00000326695:exon3:c.A161T:p.E54V;ENSG00000152214:ENST00000589109:exon3:c.A161T:p.E54V;	0.935552982529464	0.574
18	40554112	T	C	18	42974147	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.A161G:p.E54G;RIT2:NM_002930:exon3:c.A161G:p.E54G;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A161G:p.E54G;ENSG00000152214:ENST00000282028:exon3:c.A161G:p.E54G;ENSG00000152214:ENST00000326695:exon3:c.A161G:p.E54G;ENSG00000152214:ENST00000589109:exon3:c.A161G:p.E54G;	0.557407909826933	0.624
18	40554112	T	G	18	42974147	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon3:c.A161C:p.E54A;RIT2:NM_002930:exon3:c.A161C:p.E54A;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon3:c.A161C:p.E54A;ENSG00000152214:ENST00000282028:exon3:c.A161C:p.E54A;ENSG00000152214:ENST00000326695:exon3:c.A161C:p.E54A;ENSG00000152214:ENST00000589109:exon3:c.A161C:p.E54A;	0.926124332908462	0.582
18	40554113	C	A	18	42974148	y	y	splicing	RIT2(NM_002930:exon4:c.161-1G>T;NM_001272077:exon4:c.161-1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.161-1G>T;ENST00000326695:exon4:c.161-1G>T;ENST00000590910:exon4:c.161-1G>T;ENST00000282028:exon4:c.161-1G>T)	.	.	0.999989125585301	0.944
18	40554113	C	G	18	42974148	y	y	splicing	RIT2(NM_002930:exon4:c.161-1G>C;NM_001272077:exon4:c.161-1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.161-1G>C;ENST00000326695:exon4:c.161-1G>C;ENST00000590910:exon4:c.161-1G>C;ENST00000282028:exon4:c.161-1G>C)	.	.	0.999989125585301	0.944
18	40554113	C	T	18	42974148	y	y	splicing	RIT2(NM_002930:exon4:c.161-1G>A;NM_001272077:exon4:c.161-1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.161-1G>A;ENST00000326695:exon4:c.161-1G>A;ENST00000590910:exon4:c.161-1G>A;ENST00000282028:exon4:c.161-1G>A)	.	.	0.999989125585301	0.944
18	40554114	T	A	18	42974149	y	y	splicing	RIT2(NM_002930:exon4:c.161-2A>T;NM_001272077:exon4:c.161-2A>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.161-2A>T;ENST00000326695:exon4:c.161-2A>T;ENST00000590910:exon4:c.161-2A>T;ENST00000282028:exon4:c.161-2A>T)	.	.	0.999986741007567	0.946
18	40554114	T	C	18	42974149	y	y	splicing	RIT2(NM_002930:exon4:c.161-2A>G;NM_001272077:exon4:c.161-2A>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.161-2A>G;ENST00000326695:exon4:c.161-2A>G;ENST00000590910:exon4:c.161-2A>G;ENST00000282028:exon4:c.161-2A>G)	.	.	0.999986741007567	0.946
18	40554114	T	G	18	42974149	y	y	splicing	RIT2(NM_002930:exon4:c.161-2A>C;NM_001272077:exon4:c.161-2A>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon4:c.161-2A>C;ENST00000326695:exon4:c.161-2A>C;ENST00000590910:exon4:c.161-2A>C;ENST00000282028:exon4:c.161-2A>C)	.	.	0.999986741007567	0.946
18	40554115	G	A	18	42974150	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0559014244488732	0.14
18	40554115	G	C	18	42974150	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.999793258341464	0.95
18	40554115	G	T	18	42974150	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.895705149339017	0.718
18	40554116	A	C	18	42974151	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.60675552005453E-4	0.014
18	40554116	A	G	18	42974151	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.2923892744218E-4	0.008
18	40554116	A	T	18	42974151	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.11715160051161E-4	0.02
18	40554117	A	C	18	42974152	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.996812641500828	0.868
18	40554117	A	G	18	42974152	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.112158451672848	0.212
18	40554117	A	T	18	42974152	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.972105327391367	0.838
18	40554118	A	C	18	42974153	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.99648204937753	0.86
18	40554118	A	G	18	42974153	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.022029537594071	0.208
18	40554118	A	T	18	42974153	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.993919658633015	0.866
18	40554119	A	C	18	42974154	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.132170057445753	0.282
18	40554119	A	G	18	42974154	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	8.8729765217444E-4	0.098
18	40554119	A	T	18	42974154	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.230984941546277	0.342
18	40554120	A	C	18	42974155	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.68357928118702	0.636
18	40554120	A	G	18	42974155	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00471136168787662	0.072
18	40554120	A	T	18	42974155	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.913262245106238	0.762
18	40554121	C	A	18	42974156	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.47693500055049E-4	0.072
18	40554121	C	G	18	42974156	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.63537801397523E-5	0.058
18	40554121	C	T	18	42974156	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.28528326196957E-4	0.084
18	40554122	A	C	18	42974157	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.982159569377987	0.838
18	40554122	A	G	18	42974157	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00609295091029298	0.104
18	40554122	A	T	18	42974157	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.999970341891152	0.97
18	40554123	C	A	18	42974158	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.69690064908913E-5	0.068
18	40554123	C	G	18	42974158	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	7.77163405045249E-5	0.012
18	40554123	C	T	18	42974158	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.321254940053E-4	0.08
18	40554124	A	C	18	42974159	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.515017412121917	0.578
18	40554124	A	G	18	42974159	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00306304419366578	0.114
18	40554124	A	T	18	42974159	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.999602222379417	0.972
18	40613768	C	A	18	43033803	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.82827935381688E-5	0.0
18	40613768	C	G	18	43033803	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.82827935381688E-5	0.0
18	40613768	C	T	18	43033803	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.82827935381688E-5	0.018
18	40613769	C	A	18	43033804	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.77993525610891E-5	0.0
18	40613769	C	G	18	43033804	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.3427982531725E-5	0.002
18	40613769	C	T	18	43033804	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.77993525610891E-5	0.0
18	40613770	A	C	18	43033805	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00520552719182243	0.244
18	40613770	A	G	18	43033805	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.110360982822894	0.376
18	40613770	A	T	18	43033805	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.108746253832004	0.394
18	40613771	C	A	18	43033806	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.532786549870057	0.53
18	40613771	C	G	18	43033806	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.851361318775842	0.68
18	40613771	C	T	18	43033806	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.560390799415062	0.666
18	40613772	T	A	18	43033807	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.476086949820303	0.404
18	40613772	T	C	18	43033807	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.499823374255715	0.444
18	40613772	T	G	18	43033807	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.371112974620743	0.454
18	40613773	T	A	18	43033808	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.44548647820093	0.444
18	40613773	T	C	18	43033808	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.95248237752894E-4	0.002
18	40613773	T	G	18	43033808	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.178965796268456	0.47
18	40613774	A	C	18	43033809	y	y	splicing	RIT2(NM_002930:exon3:c.160+2T>G;NM_001272077:exon3:c.160+2T>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.160+2T>G;ENST00000326695:exon3:c.160+2T>G;ENST00000590910:exon3:c.160+2T>G;ENST00000282028:exon3:c.160+2T>G)	.	.	0.999990585896813	0.928
18	40613774	A	G	18	43033809	y	y	splicing	RIT2(NM_002930:exon3:c.160+2T>C;NM_001272077:exon3:c.160+2T>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.160+2T>C;ENST00000326695:exon3:c.160+2T>C;ENST00000590910:exon3:c.160+2T>C;ENST00000282028:exon3:c.160+2T>C)	.	.	0.988779820358035	0.632
18	40613774	A	T	18	43033809	y	y	splicing	RIT2(NM_002930:exon3:c.160+2T>A;NM_001272077:exon3:c.160+2T>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.160+2T>A;ENST00000326695:exon3:c.160+2T>A;ENST00000590910:exon3:c.160+2T>A;ENST00000282028:exon3:c.160+2T>A)	.	.	0.999992752818502	0.926
18	40613775	C	A	18	43033810	y	y	splicing	RIT2(NM_002930:exon3:c.160+1G>T;NM_001272077:exon3:c.160+1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.160+1G>T;ENST00000326695:exon3:c.160+1G>T;ENST00000590910:exon3:c.160+1G>T;ENST00000282028:exon3:c.160+1G>T)	.	.	0.999981760802075	0.938
18	40613775	C	G	18	43033810	y	y	splicing	RIT2(NM_002930:exon3:c.160+1G>C;NM_001272077:exon3:c.160+1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.160+1G>C;ENST00000326695:exon3:c.160+1G>C;ENST00000590910:exon3:c.160+1G>C;ENST00000282028:exon3:c.160+1G>C)	.	.	0.999981760802075	0.938
18	40613775	C	T	18	43033810	y	y	splicing	RIT2(NM_002930:exon3:c.160+1G>A;NM_001272077:exon3:c.160+1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.160+1G>A;ENST00000326695:exon3:c.160+1G>A;ENST00000590910:exon3:c.160+1G>A;ENST00000282028:exon3:c.160+1G>A)	.	.	0.999981760802075	0.938
18	40613776	C	A	18	43033811	y	y	exonic	RIT2	stopgain SNV	RIT2:NM_001272077:exon2:c.G160T:p.E54X;RIT2:NM_002930:exon2:c.G160T:p.E54X;	exonic	ENSG00000152214	stopgain SNV	ENSG00000152214:ENST00000590910:exon2:c.G160T:p.E54X;ENSG00000152214:ENST00000282028:exon2:c.G160T:p.E54X;ENSG00000152214:ENST00000326695:exon2:c.G160T:p.E54X;ENSG00000152214:ENST00000589109:exon2:c.G160T:p.E54X;	0.995299571728284	0.904
18	40613776	C	G	18	43033811	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.G160C:p.E54Q;RIT2:NM_002930:exon2:c.G160C:p.E54Q;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.G160C:p.E54Q;ENSG00000152214:ENST00000282028:exon2:c.G160C:p.E54Q;ENSG00000152214:ENST00000326695:exon2:c.G160C:p.E54Q;ENSG00000152214:ENST00000589109:exon2:c.G160C:p.E54Q;	0.998319998815784	0.932
18	40613776	C	T	18	43033811	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.G160A:p.E54K;RIT2:NM_002930:exon2:c.G160A:p.E54K;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.G160A:p.E54K;ENSG00000152214:ENST00000282028:exon2:c.G160A:p.E54K;ENSG00000152214:ENST00000326695:exon2:c.G160A:p.E54K;ENSG00000152214:ENST00000589109:exon2:c.G160A:p.E54K;	0.995034295985127	0.862
18	40613777	T	A	18	43033812	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon2:c.A159T:p.I53I;RIT2:NM_002930:exon2:c.A159T:p.I53I;	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.A159T:p.I53I;ENSG00000152214:ENST00000282028:exon2:c.A159T:p.I53I;ENSG00000152214:ENST00000326695:exon2:c.A159T:p.I53I;ENSG00000152214:ENST00000589109:exon2:c.A159T:p.I53I;	0.0239177334542628	0.45
18	40613777	T	C	18	43033812	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.A159G:p.I53M;RIT2:NM_002930:exon2:c.A159G:p.I53M;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.A159G:p.I53M;ENSG00000152214:ENST00000282028:exon2:c.A159G:p.I53M;ENSG00000152214:ENST00000326695:exon2:c.A159G:p.I53M;ENSG00000152214:ENST00000589109:exon2:c.A159G:p.I53M;	0.222356701049531	0.548
18	40613777	T	G	18	43033812	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon2:c.A159C:p.I53I;RIT2:NM_002930:exon2:c.A159C:p.I53I;	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.A159C:p.I53I;ENSG00000152214:ENST00000282028:exon2:c.A159C:p.I53I;ENSG00000152214:ENST00000326695:exon2:c.A159C:p.I53I;ENSG00000152214:ENST00000589109:exon2:c.A159C:p.I53I;	0.0715667573161881	0.516
18	40613778	A	C	18	43033813	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.T158G:p.I53R;RIT2:NM_002930:exon2:c.T158G:p.I53R;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.T158G:p.I53R;ENSG00000152214:ENST00000282028:exon2:c.T158G:p.I53R;ENSG00000152214:ENST00000326695:exon2:c.T158G:p.I53R;ENSG00000152214:ENST00000589109:exon2:c.T158G:p.I53R;	0.445211383491797	0.65
18	40613778	A	G	18	43033813	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.T158C:p.I53T;RIT2:NM_002930:exon2:c.T158C:p.I53T;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.T158C:p.I53T;ENSG00000152214:ENST00000282028:exon2:c.T158C:p.I53T;ENSG00000152214:ENST00000326695:exon2:c.T158C:p.I53T;ENSG00000152214:ENST00000589109:exon2:c.T158C:p.I53T;	0.269501369153548	0.622
18	40613778	A	T	18	43033813	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.T158A:p.I53K;RIT2:NM_002930:exon2:c.T158A:p.I53K;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.T158A:p.I53K;ENSG00000152214:ENST00000282028:exon2:c.T158A:p.I53K;ENSG00000152214:ENST00000326695:exon2:c.T158A:p.I53K;ENSG00000152214:ENST00000589109:exon2:c.T158A:p.I53K;	0.257784705353889	0.644
18	40613831	T	A	18	43033866	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon2:c.A105T:p.A35A;RIT2:NM_002930:exon2:c.A105T:p.A35A;	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.A105T:p.A35A;ENSG00000152214:ENST00000282028:exon2:c.A105T:p.A35A;ENSG00000152214:ENST00000326695:exon2:c.A105T:p.A35A;ENSG00000152214:ENST00000589109:exon2:c.A105T:p.A35A;	1.01963375363944E-4	0.0
18	40613831	T	C	18	43033866	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon2:c.A105G:p.A35A;RIT2:NM_002930:exon2:c.A105G:p.A35A;	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.A105G:p.A35A;ENSG00000152214:ENST00000282028:exon2:c.A105G:p.A35A;ENSG00000152214:ENST00000326695:exon2:c.A105G:p.A35A;ENSG00000152214:ENST00000589109:exon2:c.A105G:p.A35A;	1.90779694795816E-4	0.026
18	40613831	T	G	18	43033866	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon2:c.A105C:p.A35A;RIT2:NM_002930:exon2:c.A105C:p.A35A;	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.A105C:p.A35A;ENSG00000152214:ENST00000282028:exon2:c.A105C:p.A35A;ENSG00000152214:ENST00000326695:exon2:c.A105C:p.A35A;ENSG00000152214:ENST00000589109:exon2:c.A105C:p.A35A;	8.14763904482552E-4	0.022
18	40613832	G	A	18	43033867	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.C104T:p.A35V;RIT2:NM_002930:exon2:c.C104T:p.A35V;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.C104T:p.A35V;ENSG00000152214:ENST00000282028:exon2:c.C104T:p.A35V;ENSG00000152214:ENST00000326695:exon2:c.C104T:p.A35V;ENSG00000152214:ENST00000589109:exon2:c.C104T:p.A35V;	0.853250250036354	0.814
18	40613832	G	C	18	43033867	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.C104G:p.A35G;RIT2:NM_002930:exon2:c.C104G:p.A35G;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.C104G:p.A35G;ENSG00000152214:ENST00000282028:exon2:c.C104G:p.A35G;ENSG00000152214:ENST00000326695:exon2:c.C104G:p.A35G;ENSG00000152214:ENST00000589109:exon2:c.C104G:p.A35G;	0.867753839503569	0.692
18	40613832	G	T	18	43033867	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon2:c.C104A:p.A35E;RIT2:NM_002930:exon2:c.C104A:p.A35E;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon2:c.C104A:p.A35E;ENSG00000152214:ENST00000282028:exon2:c.C104A:p.A35E;ENSG00000152214:ENST00000326695:exon2:c.C104A:p.A35E;ENSG00000152214:ENST00000589109:exon2:c.C104A:p.A35E;	0.874837689789147	0.776
18	40613833	C	A	18	43033868	y	y	splicing	RIT2(NM_002930:exon3:c.104-1G>T;NM_001272077:exon3:c.104-1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.104-1G>T;ENST00000326695:exon3:c.104-1G>T;ENST00000590910:exon3:c.104-1G>T;ENST00000282028:exon3:c.104-1G>T)	.	.	0.999981760802075	0.938
18	40613833	C	G	18	43033868	y	y	splicing	RIT2(NM_002930:exon3:c.104-1G>C;NM_001272077:exon3:c.104-1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.104-1G>C;ENST00000326695:exon3:c.104-1G>C;ENST00000590910:exon3:c.104-1G>C;ENST00000282028:exon3:c.104-1G>C)	.	.	0.999981760802075	0.938
18	40613833	C	T	18	43033868	y	y	splicing	RIT2(NM_002930:exon3:c.104-1G>A;NM_001272077:exon3:c.104-1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.104-1G>A;ENST00000326695:exon3:c.104-1G>A;ENST00000590910:exon3:c.104-1G>A;ENST00000282028:exon3:c.104-1G>A)	.	.	0.999981760802075	0.938
18	40613834	T	A	18	43033869	y	y	splicing	RIT2(NM_002930:exon3:c.104-2A>T;NM_001272077:exon3:c.104-2A>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.104-2A>T;ENST00000326695:exon3:c.104-2A>T;ENST00000590910:exon3:c.104-2A>T;ENST00000282028:exon3:c.104-2A>T)	.	.	0.999992752818502	0.926
18	40613834	T	C	18	43033869	y	y	splicing	RIT2(NM_002930:exon3:c.104-2A>G;NM_001272077:exon3:c.104-2A>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.104-2A>G;ENST00000326695:exon3:c.104-2A>G;ENST00000590910:exon3:c.104-2A>G;ENST00000282028:exon3:c.104-2A>G)	.	.	0.999992752818502	0.926
18	40613834	T	G	18	43033869	y	y	splicing	RIT2(NM_002930:exon3:c.104-2A>C;NM_001272077:exon3:c.104-2A>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon3:c.104-2A>C;ENST00000326695:exon3:c.104-2A>C;ENST00000590910:exon3:c.104-2A>C;ENST00000282028:exon3:c.104-2A>C)	.	.	0.999992752818502	0.926
18	40613835	G	A	18	43033870	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0194910448702741	0.144
18	40613835	G	C	18	43033870	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.998916392353155	0.946
18	40613835	G	T	18	43033870	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.4934743426788	0.6
18	40613836	A	C	18	43033871	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	5.16289205861175E-5	0.0
18	40613836	A	G	18	43033871	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	9.62807446831714E-5	0.002
18	40613836	A	T	18	43033871	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.0840112179563E-5	0.0
18	40613837	A	C	18	43033872	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.129307790761117	0.214
18	40613837	A	G	18	43033872	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0018219222161826	0.044
18	40613837	A	T	18	43033872	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0113594684710744	0.152
18	40613838	A	C	18	43033873	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0229804469494914	0.116
18	40613838	A	G	18	43033873	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	8.1739928305169E-5	0.02
18	40613838	A	T	18	43033873	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00302503653874972	0.07
18	40613839	G	A	18	43033874	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	2.04148495169223E-4	0.014
18	40613839	G	C	18	43033874	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00134746328936511	0.1
18	40613839	G	T	18	43033874	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0024089138011991	0.09
18	40613840	A	C	18	43033875	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00816690053729478	0.136
18	40613840	A	G	18	43033875	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0013184357257843	0.022
18	40613840	A	T	18	43033875	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.030843243233585	0.174
18	40613841	A	C	18	43033876	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00445635941958791	0.138
18	40613841	A	G	18	43033876	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	8.02177364609015E-4	0.036
18	40613841	A	T	18	43033876	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00531029969978047	0.142
18	40613842	A	C	18	43033877	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00116270705442841	0.112
18	40613842	A	G	18	43033877	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.72910810719503E-4	0.096
18	40613842	A	T	18	43033877	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00104717551946566	0.094
18	40613843	A	C	18	43033878	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	4.2323599165458E-4	0.044
18	40613843	A	G	18	43033878	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.89175936943127E-4	0.006
18	40613843	A	T	18	43033878	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	3.46430280066575E-4	0.024
18	40613844	A	C	18	43033879	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	6.38232503458572E-4	0.094
18	40613844	A	G	18	43033879	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	1.6585795244426E-4	0.01
18	40613844	A	T	18	43033879	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	9.45924313173001E-4	0.124
18	40695374	A	C	18	43115409	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0660734814524414	0.184
18	40695374	A	G	18	43115409	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0660734814524414	0.228
18	40695374	A	T	18	43115409	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.089240318656885	0.286
18	40695375	A	C	18	43115410	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.228128373573124	0.414
18	40695375	A	G	18	43115410	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.228128373573124	0.476
18	40695375	A	T	18	43115410	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.209148410835946	0.52
18	40695376	A	C	18	43115411	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0476461317292778	0.314
18	40695376	A	G	18	43115411	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.27195585452515	0.588
18	40695376	A	T	18	43115411	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.0834519061385996	0.408
18	40695377	C	A	18	43115412	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.995936978801972	0.86
18	40695377	C	G	18	43115412	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.998274188711336	0.858
18	40695377	C	T	18	43115412	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.995030619734134	0.894
18	40695378	T	A	18	43115413	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.308717446553021	0.372
18	40695378	T	C	18	43115413	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.634222016460163	0.296
18	40695378	T	G	18	43115413	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.314323121108406	0.35
18	40695379	T	A	18	43115414	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.950226024812224	0.622
18	40695379	T	C	18	43115414	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.00529377322860299	0.122
18	40695379	T	G	18	43115414	y	y	intronic	RIT2	.	.	intronic	ENSG00000152214	.	.	0.98890933217107	0.782
18	40695380	A	C	18	43115415	y	y	splicing	RIT2(NM_002930:exon2:c.103+2T>G;NM_001272077:exon2:c.103+2T>G)	.	.	splicing	ENSG00000152214(ENST00000589109:exon2:c.103+2T>G;ENST00000326695:exon2:c.103+2T>G;ENST00000590910:exon2:c.103+2T>G;ENST00000282028:exon2:c.103+2T>G)	.	.	0.999989917668626	0.926
18	40695380	A	G	18	43115415	y	y	splicing	RIT2(NM_002930:exon2:c.103+2T>C;NM_001272077:exon2:c.103+2T>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon2:c.103+2T>C;ENST00000326695:exon2:c.103+2T>C;ENST00000590910:exon2:c.103+2T>C;ENST00000282028:exon2:c.103+2T>C)	.	.	0.988042962918841	0.606
18	40695380	A	T	18	43115415	y	y	splicing	RIT2(NM_002930:exon2:c.103+2T>A;NM_001272077:exon2:c.103+2T>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon2:c.103+2T>A;ENST00000326695:exon2:c.103+2T>A;ENST00000590910:exon2:c.103+2T>A;ENST00000282028:exon2:c.103+2T>A)	.	.	0.999989917668626	0.926
18	40695381	C	A	18	43115416	y	y	splicing	RIT2(NM_002930:exon2:c.103+1G>T;NM_001272077:exon2:c.103+1G>T)	.	.	splicing	ENSG00000152214(ENST00000589109:exon2:c.103+1G>T;ENST00000326695:exon2:c.103+1G>T;ENST00000590910:exon2:c.103+1G>T;ENST00000282028:exon2:c.103+1G>T)	.	.	0.999986613959381	0.924
18	40695381	C	G	18	43115416	y	y	splicing	RIT2(NM_002930:exon2:c.103+1G>C;NM_001272077:exon2:c.103+1G>C)	.	.	splicing	ENSG00000152214(ENST00000589109:exon2:c.103+1G>C;ENST00000326695:exon2:c.103+1G>C;ENST00000590910:exon2:c.103+1G>C;ENST00000282028:exon2:c.103+1G>C)	.	.	0.999986613959381	0.924
18	40695381	C	T	18	43115416	y	y	splicing	RIT2(NM_002930:exon2:c.103+1G>A;NM_001272077:exon2:c.103+1G>A)	.	.	splicing	ENSG00000152214(ENST00000589109:exon2:c.103+1G>A;ENST00000326695:exon2:c.103+1G>A;ENST00000590910:exon2:c.103+1G>A;ENST00000282028:exon2:c.103+1G>A)	.	.	0.999986613959381	0.924
18	40695382	C	A	18	43115417	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon1:c.G103T:p.A35S;RIT2:NM_002930:exon1:c.G103T:p.A35S;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.G103T:p.A35S;ENSG00000152214:ENST00000282028:exon1:c.G103T:p.A35S;ENSG00000152214:ENST00000326695:exon1:c.G103T:p.A35S;ENSG00000152214:ENST00000589109:exon1:c.G103T:p.A35S;	0.969067429024986	0.646
18	40695382	C	G	18	43115417	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon1:c.G103C:p.A35P;RIT2:NM_002930:exon1:c.G103C:p.A35P;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.G103C:p.A35P;ENSG00000152214:ENST00000282028:exon1:c.G103C:p.A35P;ENSG00000152214:ENST00000326695:exon1:c.G103C:p.A35P;ENSG00000152214:ENST00000589109:exon1:c.G103C:p.A35P;	0.985054691361099	0.662
18	40695382	C	T	18	43115417	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon1:c.G103A:p.A35T;RIT2:NM_002930:exon1:c.G103A:p.A35T;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.G103A:p.A35T;ENSG00000152214:ENST00000282028:exon1:c.G103A:p.A35T;ENSG00000152214:ENST00000326695:exon1:c.G103A:p.A35T;ENSG00000152214:ENST00000589109:exon1:c.G103A:p.A35T;	0.89636786524071	0.572
18	40695383	G	A	18	43115418	y	y	exonic	RIT2	synonymous SNV	RIT2:NM_001272077:exon1:c.C102T:p.S34S;RIT2:NM_002930:exon1:c.C102T:p.S34S;	exonic	ENSG00000152214	synonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.C102T:p.S34S;ENSG00000152214:ENST00000282028:exon1:c.C102T:p.S34S;ENSG00000152214:ENST00000326695:exon1:c.C102T:p.S34S;ENSG00000152214:ENST00000589109:exon1:c.C102T:p.S34S;	0.0059906485259884	0.162
18	40695383	G	C	18	43115418	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon1:c.C102G:p.S34R;RIT2:NM_002930:exon1:c.C102G:p.S34R;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.C102G:p.S34R;ENSG00000152214:ENST00000282028:exon1:c.C102G:p.S34R;ENSG00000152214:ENST00000326695:exon1:c.C102G:p.S34R;ENSG00000152214:ENST00000589109:exon1:c.C102G:p.S34R;	0.0787943642373485	0.258
18	40695383	G	T	18	43115418	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon1:c.C102A:p.S34R;RIT2:NM_002930:exon1:c.C102A:p.S34R;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.C102A:p.S34R;ENSG00000152214:ENST00000282028:exon1:c.C102A:p.S34R;ENSG00000152214:ENST00000326695:exon1:c.C102A:p.S34R;ENSG00000152214:ENST00000589109:exon1:c.C102A:p.S34R;	0.0396169909086266	0.34
18	40695384	C	A	18	43115419	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon1:c.G101T:p.S34I;RIT2:NM_002930:exon1:c.G101T:p.S34I;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.G101T:p.S34I;ENSG00000152214:ENST00000282028:exon1:c.G101T:p.S34I;ENSG00000152214:ENST00000326695:exon1:c.G101T:p.S34I;ENSG00000152214:ENST00000589109:exon1:c.G101T:p.S34I;	0.0269475691851308	0.23
18	40695384	C	G	18	43115419	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon1:c.G101C:p.S34T;RIT2:NM_002930:exon1:c.G101C:p.S34T;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.G101C:p.S34T;ENSG00000152214:ENST00000282028:exon1:c.G101C:p.S34T;ENSG00000152214:ENST00000326695:exon1:c.G101C:p.S34T;ENSG00000152214:ENST00000589109:exon1:c.G101C:p.S34T;	0.0284626314242509	0.304
18	40695384	C	T	18	43115419	y	y	exonic	RIT2	nonsynonymous SNV	RIT2:NM_001272077:exon1:c.G101A:p.S34N;RIT2:NM_002930:exon1:c.G101A:p.S34N;	exonic	ENSG00000152214	nonsynonymous SNV	ENSG00000152214:ENST00000590910:exon1:c.G101A:p.S34N;ENSG00000152214:ENST00000282028:exon1:c.G101A:p.S34N;ENSG00000152214:ENST00000326695:exon1:c.G101A:p.S34N;ENSG00000152214:ENST00000589109:exon1:c.G101A:p.S34N;	0.0208617281284821	0.298
18	40850612	A	C	18	43270647	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon4:c.T972G:p.D324E;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon4:c.T162G:p.D54E;ENSG00000132872:ENST00000590752:exon4:c.T918G:p.D306E;ENSG00000132872:ENST00000255224:exon4:c.T972G:p.D324E;	0.00205007687383301	0.08
18	40850612	A	G	18	43270647	y	y	exonic	SYT4	synonymous SNV	SYT4:NM_020783:exon4:c.T972C:p.D324D;	exonic	ENSG00000132872	synonymous SNV	ENSG00000132872:ENST00000596867:exon4:c.T162C:p.D54D;ENSG00000132872:ENST00000590752:exon4:c.T918C:p.D306D;ENSG00000132872:ENST00000255224:exon4:c.T972C:p.D324D;	0.00115108321667275	0.208
18	40850612	A	T	18	43270647	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon4:c.T972A:p.D324E;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon4:c.T162A:p.D54E;ENSG00000132872:ENST00000590752:exon4:c.T918A:p.D306E;ENSG00000132872:ENST00000255224:exon4:c.T972A:p.D324E;	0.00283004372898203	0.114
18	40850613	T	A	18	43270648	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon4:c.A971T:p.D324V;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon4:c.A161T:p.D54V;ENSG00000132872:ENST00000590752:exon4:c.A917T:p.D306V;ENSG00000132872:ENST00000255224:exon4:c.A971T:p.D324V;	0.597676885979968	0.468
18	40850613	T	C	18	43270648	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon4:c.A971G:p.D324G;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon4:c.A161G:p.D54G;ENSG00000132872:ENST00000590752:exon4:c.A917G:p.D306G;ENSG00000132872:ENST00000255224:exon4:c.A971G:p.D324G;	0.612164549916736	0.562
18	40850613	T	G	18	43270648	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon4:c.A971C:p.D324A;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon4:c.A161C:p.D54A;ENSG00000132872:ENST00000590752:exon4:c.A917C:p.D306A;ENSG00000132872:ENST00000255224:exon4:c.A971C:p.D324A;	0.510554720078152	0.484
18	40850614	C	A	18	43270649	y	y	splicing	SYT4(NM_020783:exon5:c.971-1G>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon5:c.971-1G>T;ENST00000590752:exon5:c.917-1G>T;ENST00000596867:exon5:c.161-1G>T)	.	.	0.999983677848485	0.942
18	40850614	C	G	18	43270649	y	y	splicing	SYT4(NM_020783:exon5:c.971-1G>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon5:c.971-1G>C;ENST00000590752:exon5:c.917-1G>C;ENST00000596867:exon5:c.161-1G>C)	.	.	0.999983677848485	0.942
18	40850614	C	T	18	43270649	y	y	splicing	SYT4(NM_020783:exon5:c.971-1G>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon5:c.971-1G>A;ENST00000590752:exon5:c.917-1G>A;ENST00000596867:exon5:c.161-1G>A)	.	.	0.999983677848485	0.942
18	40850615	T	A	18	43270650	y	y	splicing	SYT4(NM_020783:exon5:c.971-2A>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon5:c.971-2A>T;ENST00000590752:exon5:c.917-2A>T;ENST00000596867:exon5:c.161-2A>T)	.	.	0.999986741007567	0.944
18	40850615	T	C	18	43270650	y	y	splicing	SYT4(NM_020783:exon5:c.971-2A>G)	.	.	splicing	ENSG00000132872(ENST00000255224:exon5:c.971-2A>G;ENST00000590752:exon5:c.917-2A>G;ENST00000596867:exon5:c.161-2A>G)	.	.	0.999986741007567	0.944
18	40850615	T	G	18	43270650	y	y	splicing	SYT4(NM_020783:exon5:c.971-2A>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon5:c.971-2A>C;ENST00000590752:exon5:c.917-2A>C;ENST00000596867:exon5:c.161-2A>C)	.	.	0.999986741007567	0.944
18	40850616	G	A	18	43270651	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0271046334955894	0.144
18	40850616	G	C	18	43270651	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999705160963814	0.962
18	40850616	G	T	18	43270651	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.998059398964847	0.878
18	40850617	C	A	18	43270652	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.72921742903692E-5	0.002
18	40850617	C	G	18	43270652	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.99821464392599E-5	0.002
18	40850617	C	T	18	43270652	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.09603281787365E-5	0.0
18	40850618	A	C	18	43270653	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.131212155329172	0.51
18	40850618	A	G	18	43270653	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0025182585148559	0.132
18	40850618	A	T	18	43270653	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999532986724318	0.936
18	40850619	G	A	18	43270654	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	4.94233376296458E-5	0.004
18	40850619	G	C	18	43270654	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.995927295607694	0.914
18	40850619	G	T	18	43270654	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00311525323624623	0.222
18	40850620	T	A	18	43270655	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.95963122867088E-5	0.006
18	40850620	T	C	18	43270655	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.79464351559136E-5	0.002
18	40850620	T	G	18	43270655	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.62578931268723E-5	0.012
18	40850621	G	A	18	43270656	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.04013978471139E-5	0.118
18	40850621	G	C	18	43270656	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.707998451696E-4	0.026
18	40850621	G	T	18	43270656	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	9.80705977680237E-4	0.036
18	40850622	G	A	18	43270657	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	4.13622587653034E-5	0.066
18	40850622	G	C	18	43270657	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.47816295221573E-4	0.04
18	40850622	G	T	18	43270657	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00103856533092731	0.146
18	40850623	A	C	18	43270658	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	6.45833120426386E-4	0.092
18	40850623	A	G	18	43270658	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.39159512546881E-5	0.02
18	40850623	A	T	18	43270658	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	8.48706534291532E-4	0.11
18	40850624	A	C	18	43270659	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.700982562687364	0.598
18	40850624	A	G	18	43270659	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.457343927397584	0.332
18	40850624	A	T	18	43270659	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.697388668453737	0.632
18	40850625	C	A	18	43270660	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.05783668758939E-5	0.032
18	40850625	C	G	18	43270660	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.05783668758939E-5	0.004
18	40850625	C	T	18	43270660	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.048368115245E-4	0.038
18	40851669	A	C	18	43271704	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.23845200707447E-4	0.01
18	40851669	A	G	18	43271704	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.41270098297435E-4	0.016
18	40851669	A	T	18	43271704	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.23845200707447E-4	0.006
18	40851670	T	A	18	43271705	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.04880898606558E-4	0.002
18	40851670	T	C	18	43271705	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.04880898606558E-4	0.008
18	40851670	T	G	18	43271705	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.51591174045998E-4	0.006
18	40851671	T	A	18	43271706	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	8.44052641224954E-5	0.006
18	40851671	T	C	18	43271706	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	7.96238277796726E-5	0.002
18	40851671	T	G	18	43271706	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	6.92627309238409E-4	0.034
18	40851672	C	A	18	43271707	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.990020346742613	0.576
18	40851672	C	G	18	43271707	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.990103618522837	0.642
18	40851672	C	T	18	43271707	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.997432465700384	0.654
18	40851673	T	A	18	43271708	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.996079739047792	0.852
18	40851673	T	C	18	43271708	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.99494516402275	0.832
18	40851673	T	G	18	43271708	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.983694057819948	0.85
18	40851674	T	A	18	43271709	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.957290466934428	0.704
18	40851674	T	C	18	43271709	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00868048962153421	0.258
18	40851674	T	G	18	43271709	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.980596557177518	0.748
18	40851675	A	C	18	43271710	y	y	splicing	SYT4(NM_020783:exon4:c.970+2T>G)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.970+2T>G;ENST00000590752:exon4:c.916+2T>G;ENST00000596867:exon4:c.160+2T>G)	.	.	0.999988247793601	0.932
18	40851675	A	G	18	43271710	y	y	splicing	SYT4(NM_020783:exon4:c.970+2T>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.970+2T>C;ENST00000590752:exon4:c.916+2T>C;ENST00000596867:exon4:c.160+2T>C)	.	.	0.99340600729494	0.702
18	40851675	A	T	18	43271710	y	y	splicing	SYT4(NM_020783:exon4:c.970+2T>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.970+2T>A;ENST00000590752:exon4:c.916+2T>A;ENST00000596867:exon4:c.160+2T>A)	.	.	0.999988247793601	0.932
18	40851676	C	A	18	43271711	y	y	splicing	SYT4(NM_020783:exon4:c.970+1G>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.970+1G>T;ENST00000590752:exon4:c.916+1G>T;ENST00000596867:exon4:c.160+1G>T)	.	.	0.999990361384395	0.938
18	40851676	C	G	18	43271711	y	y	splicing	SYT4(NM_020783:exon4:c.970+1G>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.970+1G>C;ENST00000590752:exon4:c.916+1G>C;ENST00000596867:exon4:c.160+1G>C)	.	.	0.999990361384395	0.938
18	40851676	C	T	18	43271711	y	y	splicing	SYT4(NM_020783:exon4:c.970+1G>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.970+1G>A;ENST00000590752:exon4:c.916+1G>A;ENST00000596867:exon4:c.160+1G>A)	.	.	0.999990361384395	0.938
18	40851677	C	A	18	43271712	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.G970T:p.D324Y;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon3:c.G160T:p.D54Y;ENSG00000132872:ENST00000590752:exon3:c.G916T:p.D306Y;ENSG00000132872:ENST00000255224:exon3:c.G970T:p.D324Y;	0.999879428174743	0.982
18	40851677	C	G	18	43271712	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.G970C:p.D324H;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon3:c.G160C:p.D54H;ENSG00000132872:ENST00000590752:exon3:c.G916C:p.D306H;ENSG00000132872:ENST00000255224:exon3:c.G970C:p.D324H;	0.999977680374532	0.954
18	40851677	C	T	18	43271712	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.G970A:p.D324N;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon3:c.G160A:p.D54N;ENSG00000132872:ENST00000590752:exon3:c.G916A:p.D306N;ENSG00000132872:ENST00000255224:exon3:c.G970A:p.D324N;	0.999963148429769	0.982
18	40851678	T	A	18	43271713	y	y	exonic	SYT4	synonymous SNV	SYT4:NM_020783:exon3:c.A969T:p.S323S;	exonic	ENSG00000132872	synonymous SNV	ENSG00000132872:ENST00000596867:exon3:c.A159T:p.S53S;ENSG00000132872:ENST00000590752:exon3:c.A915T:p.S305S;ENSG00000132872:ENST00000255224:exon3:c.A969T:p.S323S;	0.994779928579849	0.64
18	40851678	T	C	18	43271713	y	y	exonic	SYT4	synonymous SNV	SYT4:NM_020783:exon3:c.A969G:p.S323S;	exonic	ENSG00000132872	synonymous SNV	ENSG00000132872:ENST00000596867:exon3:c.A159G:p.S53S;ENSG00000132872:ENST00000590752:exon3:c.A915G:p.S305S;ENSG00000132872:ENST00000255224:exon3:c.A969G:p.S323S;	0.995329336485623	0.91
18	40851678	T	G	18	43271713	y	y	exonic	SYT4	synonymous SNV	SYT4:NM_020783:exon3:c.A969C:p.S323S;	exonic	ENSG00000132872	synonymous SNV	ENSG00000132872:ENST00000596867:exon3:c.A159C:p.S53S;ENSG00000132872:ENST00000590752:exon3:c.A915C:p.S305S;ENSG00000132872:ENST00000255224:exon3:c.A969C:p.S323S;	0.994864623884211	0.838
18	40851679	G	A	18	43271714	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.C968T:p.S323L;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000596867:exon3:c.C158T:p.S53L;ENSG00000132872:ENST00000590752:exon3:c.C914T:p.S305L;ENSG00000132872:ENST00000255224:exon3:c.C968T:p.S323L;	0.998853986230212	0.756
18	40851679	G	C	18	43271714	y	y	exonic	SYT4	stopgain SNV	SYT4:NM_020783:exon3:c.C968G:p.S323X;	exonic	ENSG00000132872	stopgain SNV	ENSG00000132872:ENST00000596867:exon3:c.C158G:p.S53X;ENSG00000132872:ENST00000590752:exon3:c.C914G:p.S305X;ENSG00000132872:ENST00000255224:exon3:c.C968G:p.S323X;	0.948994936098383	0.678
18	40851679	G	T	18	43271714	y	y	exonic	SYT4	stopgain SNV	SYT4:NM_020783:exon3:c.C968A:p.S323X;	exonic	ENSG00000132872	stopgain SNV	ENSG00000132872:ENST00000596867:exon3:c.C158A:p.S53X;ENSG00000132872:ENST00000590752:exon3:c.C914A:p.S305X;ENSG00000132872:ENST00000255224:exon3:c.C968A:p.S323X;	0.970138450969	0.84
18	40851796	T	A	18	43271831	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.A851T:p.K284M;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon4:c.A332T:p.K111M;ENSG00000132872:ENST00000596867:exon3:c.A41T:p.K14M;ENSG00000132872:ENST00000590752:exon3:c.A797T:p.K266M;ENSG00000132872:ENST00000255224:exon3:c.A851T:p.K284M;	0.888927067926592	0.822
18	40851796	T	C	18	43271831	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.A851G:p.K284R;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon4:c.A332G:p.K111R;ENSG00000132872:ENST00000596867:exon3:c.A41G:p.K14R;ENSG00000132872:ENST00000590752:exon3:c.A797G:p.K266R;ENSG00000132872:ENST00000255224:exon3:c.A851G:p.K284R;	0.017922860081294	0.116
18	40851796	T	G	18	43271831	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.A851C:p.K284T;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon4:c.A332C:p.K111T;ENSG00000132872:ENST00000596867:exon3:c.A41C:p.K14T;ENSG00000132872:ENST00000590752:exon3:c.A797C:p.K266T;ENSG00000132872:ENST00000255224:exon3:c.A851C:p.K284T;	0.189099411564325	0.568
18	40851797	T	A	18	43271832	y	y	exonic	SYT4	stopgain SNV	SYT4:NM_020783:exon3:c.A850T:p.K284X;	exonic	ENSG00000132872	stopgain SNV	ENSG00000132872:ENST00000593720:exon4:c.A331T:p.K111X;ENSG00000132872:ENST00000596867:exon3:c.A40T:p.K14X;ENSG00000132872:ENST00000590752:exon3:c.A796T:p.K266X;ENSG00000132872:ENST00000255224:exon3:c.A850T:p.K284X;	0.559487411074629	0.65
18	40851797	T	C	18	43271832	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.A850G:p.K284E;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon4:c.A331G:p.K111E;ENSG00000132872:ENST00000596867:exon3:c.A40G:p.K14E;ENSG00000132872:ENST00000590752:exon3:c.A796G:p.K266E;ENSG00000132872:ENST00000255224:exon3:c.A850G:p.K284E;	0.735140607834191	0.566
18	40851797	T	G	18	43271832	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon3:c.A850C:p.K284Q;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon4:c.A331C:p.K111Q;ENSG00000132872:ENST00000596867:exon3:c.A40C:p.K14Q;ENSG00000132872:ENST00000590752:exon3:c.A796C:p.K266Q;ENSG00000132872:ENST00000255224:exon3:c.A850C:p.K284Q;	0.452312026447798	0.584
18	40851798	C	A	18	43271833	y	y	splicing	SYT4(NM_020783:exon4:c.850-1G>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.850-1G>T;ENST00000590752:exon4:c.796-1G>T;ENST00000596867:exon4:c.40-1G>T;ENST00000593720:exon5:c.331-1G>T)	.	.	0.999990361384395	0.938
18	40851798	C	G	18	43271833	y	y	splicing	SYT4(NM_020783:exon4:c.850-1G>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.850-1G>C;ENST00000590752:exon4:c.796-1G>C;ENST00000596867:exon4:c.40-1G>C;ENST00000593720:exon5:c.331-1G>C)	.	.	0.999990361384395	0.938
18	40851798	C	T	18	43271833	y	y	splicing	SYT4(NM_020783:exon4:c.850-1G>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.850-1G>A;ENST00000590752:exon4:c.796-1G>A;ENST00000596867:exon4:c.40-1G>A;ENST00000593720:exon5:c.331-1G>A)	.	.	0.999990361384395	0.938
18	40851799	T	A	18	43271834	y	y	splicing	SYT4(NM_020783:exon4:c.850-2A>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.850-2A>T;ENST00000590752:exon4:c.796-2A>T;ENST00000596867:exon4:c.40-2A>T;ENST00000593720:exon5:c.331-2A>T)	.	.	0.999988247793601	0.932
18	40851799	T	C	18	43271834	y	y	splicing	SYT4(NM_020783:exon4:c.850-2A>G)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.850-2A>G;ENST00000590752:exon4:c.796-2A>G;ENST00000596867:exon4:c.40-2A>G;ENST00000593720:exon5:c.331-2A>G)	.	.	0.999988247793601	0.932
18	40851799	T	G	18	43271834	y	y	splicing	SYT4(NM_020783:exon4:c.850-2A>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon4:c.850-2A>C;ENST00000590752:exon4:c.796-2A>C;ENST00000596867:exon4:c.40-2A>C;ENST00000593720:exon5:c.331-2A>C)	.	.	0.999988247793601	0.932
18	40851800	G	A	18	43271835	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.3857366645113E-4	0.01
18	40851800	G	C	18	43271835	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.997015771481756	0.898
18	40851800	G	T	18	43271835	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.825152129236089	0.488
18	40851801	C	A	18	43271836	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.21265174906703E-5	0.002
18	40851801	C	G	18	43271836	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	9.72142339606501E-6	0.004
18	40851801	C	T	18	43271836	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.16349724145408E-5	0.0
18	40851802	A	C	18	43271837	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0877750758266112	0.376
18	40851802	A	G	18	43271837	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00229952414669915	0.086
18	40851802	A	T	18	43271837	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999543582456656	0.826
18	40851803	G	A	18	43271838	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.18114795302454E-5	0.018
18	40851803	G	C	18	43271838	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	8.38658656265702E-4	0.102
18	40851803	G	T	18	43271838	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00103787066908962	0.118
18	40851804	A	C	18	43271839	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0121065738532716	0.236
18	40851804	A	G	18	43271839	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	7.59298295462342E-4	0.026
18	40851804	A	T	18	43271839	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0265859129637655	0.21
18	40851805	A	C	18	43271840	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.25147470245265E-4	0.076
18	40851805	A	G	18	43271840	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	4.54317410986359E-5	0.01
18	40851805	A	T	18	43271840	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.07288113136553E-4	0.098
18	40851806	A	C	18	43271841	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00241724496506804	0.116
18	40851806	A	G	18	43271841	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	6.26518211520191E-4	0.016
18	40851806	A	T	18	43271841	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00588003120759797	0.144
18	40851807	G	A	18	43271842	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.40106799565152E-5	0.0
18	40851807	G	C	18	43271842	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.55744648261379E-4	0.044
18	40851807	G	T	18	43271842	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.23642872749482E-4	0.044
18	40851808	A	C	18	43271843	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0127330076405797	0.18
18	40851808	A	G	18	43271843	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.94113500424453E-4	0.058
18	40851808	A	T	18	43271843	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0209583470276462	0.212
18	40851809	G	A	18	43271844	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.76715403368884E-5	0.0
18	40851809	G	C	18	43271844	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	6.35940823283161E-5	0.002
18	40851809	G	T	18	43271844	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.04778263541399E-4	0.012
18	40853537	T	A	18	43273572	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.05224118550348E-5	0.0
18	40853537	T	C	18	43273572	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.32084402487424E-4	0.01
18	40853537	T	G	18	43273572	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	7.34247194179266E-5	0.0
18	40853538	A	C	18	43273573	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.42168608306342E-5	0.004
18	40853538	A	G	18	43273573	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.79575421938506E-5	0.002
18	40853538	A	T	18	43273573	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.73764482370677E-5	0.0
18	40853539	A	C	18	43273574	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00819282427409031	0.236
18	40853539	A	G	18	43273574	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.269326412993325	0.388
18	40853539	A	T	18	43273574	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0116150487989228	0.164
18	40853540	A	C	18	43273575	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	4.41992844978123E-4	0.06
18	40853540	A	G	18	43273575	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0421453937549712	0.228
18	40853540	A	T	18	43273575	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00937742619366368	0.154
18	40853541	T	A	18	43273576	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.969291361167533	0.738
18	40853541	T	C	18	43273576	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.992910566257241	0.86
18	40853541	T	G	18	43273576	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.962857767356044	0.738
18	40853542	T	A	18	43273577	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999915742913788	0.96
18	40853542	T	C	18	43273577	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.997696273678871	0.894
18	40853542	T	G	18	43273577	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999904479139545	0.97
18	40853543	A	C	18	43273578	y	y	splicing	SYT4(NM_020783:exon3:c.849+2T>G)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.849+2T>G;ENST00000590752:exon3:c.795+2T>G;ENST00000596867:exon3:c.39+2T>G;ENST00000593720:exon4:c.330+2T>G)	.	.	0.999988247793601	0.948
18	40853543	A	G	18	43273578	y	y	splicing	SYT4(NM_020783:exon3:c.849+2T>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.849+2T>C;ENST00000590752:exon3:c.795+2T>C;ENST00000596867:exon3:c.39+2T>C;ENST00000593720:exon4:c.330+2T>C)	.	.	0.99231226973403	0.696
18	40853543	A	T	18	43273578	y	y	splicing	SYT4(NM_020783:exon3:c.849+2T>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.849+2T>A;ENST00000590752:exon3:c.795+2T>A;ENST00000596867:exon3:c.39+2T>A;ENST00000593720:exon4:c.330+2T>A)	.	.	0.999988247793601	0.948
18	40853544	C	A	18	43273579	y	y	splicing	SYT4(NM_020783:exon3:c.849+1G>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.849+1G>T;ENST00000590752:exon3:c.795+1G>T;ENST00000596867:exon3:c.39+1G>T;ENST00000593720:exon4:c.330+1G>T)	.	.	0.999990361384395	0.948
18	40853544	C	G	18	43273579	y	y	splicing	SYT4(NM_020783:exon3:c.849+1G>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.849+1G>C;ENST00000590752:exon3:c.795+1G>C;ENST00000596867:exon3:c.39+1G>C;ENST00000593720:exon4:c.330+1G>C)	.	.	0.999990361384395	0.948
18	40853544	C	T	18	43273579	y	y	splicing	SYT4(NM_020783:exon3:c.849+1G>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.849+1G>A;ENST00000590752:exon3:c.795+1G>A;ENST00000596867:exon3:c.39+1G>A;ENST00000593720:exon4:c.330+1G>A)	.	.	0.999990361384395	0.948
18	40853545	C	A	18	43273580	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G849T:p.R283S;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.G330T:p.R110S;ENSG00000132872:ENST00000596867:exon2:c.G39T:p.R13S;ENSG00000132872:ENST00000590752:exon2:c.G795T:p.R265S;ENSG00000132872:ENST00000255224:exon2:c.G849T:p.R283S;	0.999990103804354	0.998
18	40853545	C	G	18	43273580	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G849C:p.R283S;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.G330C:p.R110S;ENSG00000132872:ENST00000596867:exon2:c.G39C:p.R13S;ENSG00000132872:ENST00000590752:exon2:c.G795C:p.R265S;ENSG00000132872:ENST00000255224:exon2:c.G849C:p.R283S;	0.999993852012922	0.996
18	40853545	C	T	18	43273580	y	y	exonic	SYT4	synonymous SNV	SYT4:NM_020783:exon2:c.G849A:p.R283R;	exonic	ENSG00000132872	synonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.G330A:p.R110R;ENSG00000132872:ENST00000596867:exon2:c.G39A:p.R13R;ENSG00000132872:ENST00000590752:exon2:c.G795A:p.R265R;ENSG00000132872:ENST00000255224:exon2:c.G849A:p.R283R;	0.999964376349982	0.996
18	40853546	C	A	18	43273581	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G848T:p.R283M;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.G329T:p.R110M;ENSG00000132872:ENST00000596867:exon2:c.G38T:p.R13M;ENSG00000132872:ENST00000590752:exon2:c.G794T:p.R265M;ENSG00000132872:ENST00000255224:exon2:c.G848T:p.R283M;	0.0280989872090163	0.144
18	40853546	C	G	18	43273581	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G848C:p.R283T;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.G329C:p.R110T;ENSG00000132872:ENST00000596867:exon2:c.G38C:p.R13T;ENSG00000132872:ENST00000590752:exon2:c.G794C:p.R265T;ENSG00000132872:ENST00000255224:exon2:c.G848C:p.R283T;	0.00795166575592455	0.058
18	40853546	C	T	18	43273581	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G848A:p.R283K;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.G329A:p.R110K;ENSG00000132872:ENST00000596867:exon2:c.G38A:p.R13K;ENSG00000132872:ENST00000590752:exon2:c.G794A:p.R265K;ENSG00000132872:ENST00000255224:exon2:c.G848A:p.R283K;	7.53244383930835E-4	0.168
18	40853547	T	A	18	43273582	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.A847T:p.R283W;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.A328T:p.R110W;ENSG00000132872:ENST00000596867:exon2:c.A37T:p.R13W;ENSG00000132872:ENST00000590752:exon2:c.A793T:p.R265W;ENSG00000132872:ENST00000255224:exon2:c.A847T:p.R283W;	0.996601177195051	0.704
18	40853547	T	C	18	43273582	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.A847G:p.R283G;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.A328G:p.R110G;ENSG00000132872:ENST00000596867:exon2:c.A37G:p.R13G;ENSG00000132872:ENST00000590752:exon2:c.A793G:p.R265G;ENSG00000132872:ENST00000255224:exon2:c.A847G:p.R283G;	0.0864845142347243	0.272
18	40853547	T	G	18	43273582	y	y	exonic	SYT4	synonymous SNV	SYT4:NM_020783:exon2:c.A847C:p.R283R;	exonic	ENSG00000132872	synonymous SNV	ENSG00000132872:ENST00000593720:exon3:c.A328C:p.R110R;ENSG00000132872:ENST00000596867:exon2:c.A37C:p.R13R;ENSG00000132872:ENST00000590752:exon2:c.A793C:p.R265R;ENSG00000132872:ENST00000255224:exon2:c.A847C:p.R283R;	0.00502302853850578	0.124
18	40854358	A	C	18	43274393	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.T36G:p.D12E;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon2:c.T2G:p.M1R;ENSG00000132872:ENST00000255224:exon2:c.T36G:p.D12E;	0.00808017793789722	0.174
18	40854358	A	G	18	43274393	y	y	exonic	SYT4	synonymous SNV	SYT4:NM_020783:exon2:c.T36C:p.D12D;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon2:c.T2C:p.M1T;	0.0100804513960672	0.206
18	40854358	A	T	18	43274393	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.T36A:p.D12E;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon2:c.T2A:p.M1K;ENSG00000132872:ENST00000255224:exon2:c.T36A:p.D12E;	0.0242692277078797	0.146
18	40854359	T	A	18	43274394	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.A35T:p.D12V;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon2:c.A1T:p.M1L;ENSG00000132872:ENST00000255224:exon2:c.A35T:p.D12V;	0.047726086304464	0.272
18	40854359	T	C	18	43274394	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.A35G:p.D12G;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon2:c.A1G:p.M1V;ENSG00000132872:ENST00000255224:exon2:c.A35G:p.D12G;	0.00359827618916439	0.022
18	40854359	T	G	18	43274394	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon2:c.A35C:p.D12A;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000593720:exon2:c.A1C:p.M1L;ENSG00000132872:ENST00000255224:exon2:c.A35C:p.D12A;	0.11319331279437	0.242
18	40854360	C	A	18	43274395	y	y	splicing	SYT4(NM_020783:exon3:c.35-1G>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.35-1G>T)	.	.	0.999990361384395	0.936
18	40854360	C	G	18	43274395	y	y	splicing	SYT4(NM_020783:exon3:c.35-1G>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.35-1G>C)	.	.	0.999990361384395	0.936
18	40854360	C	T	18	43274395	y	y	splicing	SYT4(NM_020783:exon3:c.35-1G>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.35-1G>A)	.	.	0.999990361384395	0.936
18	40854361	T	A	18	43274396	y	y	splicing	SYT4(NM_020783:exon3:c.35-2A>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.35-2A>T)	.	.	0.999988247793601	0.928
18	40854361	T	C	18	43274396	y	y	splicing	SYT4(NM_020783:exon3:c.35-2A>G)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.35-2A>G)	.	.	0.999988247793601	0.928
18	40854361	T	G	18	43274396	y	y	splicing	SYT4(NM_020783:exon3:c.35-2A>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon3:c.35-2A>C)	.	.	0.999988247793601	0.928
18	40854362	G	A	18	43274397	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.726008784811393	0.424
18	40854362	G	C	18	43274397	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999891836549486	0.958
18	40854362	G	T	18	43274397	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999526824425961	0.846
18	40854363	A	C	18	43274398	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0159288784129793	0.166
18	40854363	A	G	18	43274398	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00490074786485708	0.13
18	40854363	A	T	18	43274398	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00599629919887991	0.048
18	40854364	A	C	18	43274399	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.992335532915039	0.71
18	40854364	A	G	18	43274399	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.154877826510609	0.268
18	40854364	A	T	18	43274399	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.961651210075123	0.75
18	40854365	A	C	18	43274400	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.988329078302913	0.816
18	40854365	A	G	18	43274400	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.0196154843933358	0.214
18	40854365	A	T	18	43274400	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.991775105703457	0.82
18	40854366	A	C	18	43274401	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.720038248868598	0.568
18	40854366	A	G	18	43274401	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00204183585428975	0.152
18	40854366	A	T	18	43274401	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.951354648208565	0.738
18	40854367	A	C	18	43274402	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999806825064387	0.978
18	40854367	A	G	18	43274402	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.54548775646096E-4	0.042
18	40854367	A	T	18	43274402	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.103028840770197	0.35
18	40854368	T	A	18	43274403	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.11603774250935E-6	0.008
18	40854368	T	C	18	43274403	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	4.88065054567333E-5	0.016
18	40854368	T	G	18	43274403	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	4.7281969005102E-6	0.004
18	40854369	C	A	18	43274404	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	8.30581853220428E-5	0.0
18	40854369	C	G	18	43274404	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.26082171291044E-5	0.0
18	40854369	C	T	18	43274404	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	9.94706061325658E-4	0.012
18	40854370	A	C	18	43274405	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.99922145950784	0.946
18	40854370	A	G	18	43274405	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.992205280257297	0.634
18	40854370	A	T	18	43274405	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.999987428461705	0.98
18	40854371	A	C	18	43274406	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.998937210335381	0.814
18	40854371	A	G	18	43274406	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.687294486362494	0.44
18	40854371	A	T	18	43274406	y	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.998029040783861	0.844
18	40857197	T	A	18	43277232	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00127265193793032	0.0
18	40857197	T	C	18	43277232	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00122913998718321	0.0
18	40857197	T	G	18	43277232	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00122913998718321	0.0
18	40857198	C	A	18	43277233	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.69439264402225E-5	0.0
18	40857198	C	G	18	43277233	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.69439264402225E-5	0.0
18	40857198	C	T	18	43277233	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	5.69439264402225E-5	0.0
18	40857199	A	C	18	43277234	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.07383241157634E-4	0.006
18	40857199	A	G	18	43277234	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.07383241157634E-4	0.006
18	40857199	A	T	18	43277234	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	2.02147149369138E-4	0.022
18	40857200	G	A	18	43277235	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	4.37913387876893E-4	0.02
18	40857200	G	C	18	43277235	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.10509160435428E-4	0.02
18	40857200	G	T	18	43277235	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	3.47198512343919E-4	0.02
18	40857201	T	A	18	43277236	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.32090495008031E-4	0.0
18	40857201	T	C	18	43277236	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.35512198838435E-4	0.0
18	40857201	T	G	18	43277236	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	1.04720974779984E-4	0.0
18	40857202	A	C	18	43277237	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00115128744468825	0.0
18	40857202	A	G	18	43277237	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00115128744468825	0.0
18	40857202	A	T	18	43277237	n	y	intronic	SYT4	.	.	intronic	ENSG00000132872	.	.	0.00115128744468825	0.0
18	40857203	A	C	18	43277238	n	y	intronic	SYT4	.	.	splicing	ENSG00000132872	.	.	0.0284844574534807	0.154
18	40857203	A	G	18	43277238	n	y	intronic	SYT4	.	.	splicing	ENSG00000132872	.	.	0.0284844574534807	0.15
18	40857203	A	T	18	43277238	n	y	intronic	SYT4	.	.	splicing	ENSG00000132872	.	.	0.054451799655859	0.214
18	40857204	C	A	18	43277239	n	y	intronic	SYT4	.	.	splicing	ENSG00000132872	.	.	6.12034596408203E-5	0.012
18	40857204	C	G	18	43277239	n	y	intronic	SYT4	.	.	splicing	ENSG00000132872	.	.	8.94951672584391E-5	0.022
18	40857204	C	T	18	43277239	n	y	intronic	SYT4	.	.	splicing	ENSG00000132872	.	.	5.57145641728679E-5	0.008
18	40857205	T	A	18	43277240	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.0303739561246559	0.134
18	40857205	T	C	18	43277240	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.026211117344431	0.084
18	40857205	T	G	18	43277240	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.026211117344431	0.09
18	40857206	T	A	18	43277241	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	3.58297399438854E-4	0.0
18	40857206	T	C	18	43277241	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.00140080526416449	0.0
18	40857206	T	G	18	43277241	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	4.13887181003919E-4	0.002
18	40857207	G	A	18	43277242	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	1.84370145363914E-4	0.016
18	40857207	G	C	18	43277242	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	6.85828076184278E-4	0.028
18	40857207	G	T	18	43277242	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.00108874903356933	0.046
18	40857208	C	A	18	43277243	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.999251718684783	0.91
18	40857208	C	G	18	43277243	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.997423990471205	0.986
18	40857208	C	T	18	43277243	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.999682324515855	0.988
18	40857209	T	A	18	43277244	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.998533663289204	0.912
18	40857209	T	C	18	43277244	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.997896516463142	0.964
18	40857209	T	G	18	43277244	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.996412447043973	0.924
18	40857210	T	A	18	43277245	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.999510353196987	0.804
18	40857210	T	C	18	43277245	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.0262390061439166	0.278
18	40857210	T	G	18	43277245	y	y	intronic	SYT4	.	.	UTR5	ENSG00000132872	.	.	0.997566205394004	0.812
18	40857211	A	C	18	43277246	y	y	splicing	SYT4(NM_020783:exon2:c.34+2T>G)	.	.	splicing	ENSG00000132872(ENST00000255224:exon2:c.34+2T>G;ENST00000590752:exon2:c.34+2T>G)	.	.	0.999988247793601	0.926
18	40857211	A	G	18	43277246	y	y	splicing	SYT4(NM_020783:exon2:c.34+2T>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon2:c.34+2T>C;ENST00000590752:exon2:c.34+2T>C)	.	.	0.999897703382408	0.868
18	40857211	A	T	18	43277246	y	y	splicing	SYT4(NM_020783:exon2:c.34+2T>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon2:c.34+2T>A;ENST00000590752:exon2:c.34+2T>A)	.	.	0.999988247793601	0.926
18	40857212	C	A	18	43277247	y	y	splicing	SYT4(NM_020783:exon2:c.34+1G>T)	.	.	splicing	ENSG00000132872(ENST00000255224:exon2:c.34+1G>T;ENST00000590752:exon2:c.34+1G>T)	.	.	0.999986675681007	0.93
18	40857212	C	G	18	43277247	y	y	splicing	SYT4(NM_020783:exon2:c.34+1G>C)	.	.	splicing	ENSG00000132872(ENST00000255224:exon2:c.34+1G>C;ENST00000590752:exon2:c.34+1G>C)	.	.	0.999986675681007	0.93
18	40857212	C	T	18	43277247	y	y	splicing	SYT4(NM_020783:exon2:c.34+1G>A)	.	.	splicing	ENSG00000132872(ENST00000255224:exon2:c.34+1G>A;ENST00000590752:exon2:c.34+1G>A)	.	.	0.999986675681007	0.93
18	40857213	C	A	18	43277248	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon1:c.G34T:p.D12Y;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.G34T:p.V12F;ENSG00000132872:ENST00000255224:exon1:c.G34T:p.D12Y;	0.999897735557297	0.998
18	40857213	C	G	18	43277248	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon1:c.G34C:p.D12H;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.G34C:p.V12L;ENSG00000132872:ENST00000255224:exon1:c.G34C:p.D12H;	0.999995566069353	0.992
18	40857213	C	T	18	43277248	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon1:c.G34A:p.D12N;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.G34A:p.V12I;ENSG00000132872:ENST00000255224:exon1:c.G34A:p.D12N;	0.999984856979032	1.0
18	40857214	A	C	18	43277249	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon1:c.T33G:p.F11L;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.T33G:p.F11L;ENSG00000132872:ENST00000255224:exon1:c.T33G:p.F11L;	3.39807466105366E-5	0.038
18	40857214	A	G	18	43277249	y	y	exonic	SYT4	synonymous SNV	SYT4:NM_020783:exon1:c.T33C:p.F11F;	exonic	ENSG00000132872	synonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.T33C:p.F11F;ENSG00000132872:ENST00000255224:exon1:c.T33C:p.F11F;	1.97948402841312E-4	0.014
18	40857214	A	T	18	43277249	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon1:c.T33A:p.F11L;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.T33A:p.F11L;ENSG00000132872:ENST00000255224:exon1:c.T33A:p.F11L;	4.72541563707389E-5	0.16
18	40857215	A	C	18	43277250	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon1:c.T32G:p.F11C;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.T32G:p.F11C;ENSG00000132872:ENST00000255224:exon1:c.T32G:p.F11C;	0.56748743569492	0.62
18	40857215	A	G	18	43277250	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon1:c.T32C:p.F11S;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.T32C:p.F11S;ENSG00000132872:ENST00000255224:exon1:c.T32C:p.F11S;	0.481622809929191	0.512
18	40857215	A	T	18	43277250	y	y	exonic	SYT4	nonsynonymous SNV	SYT4:NM_020783:exon1:c.T32A:p.F11Y;	exonic	ENSG00000132872	nonsynonymous SNV	ENSG00000132872:ENST00000590752:exon1:c.T32A:p.F11Y;ENSG00000132872:ENST00000255224:exon1:c.T32A:p.F11Y;	0.0632041942782753	0.328
18	42260358	T	A	18	44680393	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00624362770938053	0.15
18	42260358	T	C	18	44680393	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00624362770938053	0.134
18	42260358	T	G	18	44680393	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00624362770938053	0.134
18	42260359	G	A	18	44680394	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.0209750345358875	0.158
18	42260359	G	C	18	44680394	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00575643231138012	0.094
18	42260359	G	T	18	44680394	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00575643231138012	0.096
18	42260360	G	A	18	44680395	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00423470616009263	0.028
18	42260360	G	C	18	44680395	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00467959050776507	0.026
18	42260360	G	T	18	44680395	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00467959050776507	0.026
18	42260361	G	A	18	44680396	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.431165983005841	0.556
18	42260361	G	C	18	44680396	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.404830996631163	0.576
18	42260361	G	T	18	44680396	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.35533288826992	0.558
18	42260362	T	A	18	44680397	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	6.79990236951604E-4	0.06
18	42260362	T	C	18	44680397	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	4.91068345983134E-4	0.008
18	42260362	T	G	18	44680397	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	4.91068345983134E-4	0.008
18	42260363	G	A	18	44680398	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00306486849404727	0.034
18	42260363	G	C	18	44680398	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00274178369450714	0.018
18	42260363	G	T	18	44680398	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00306486849404727	0.028
18	42260364	A	C	18	44680399	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00624362770938053	0.152
18	42260364	A	G	18	44680399	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00624362770938053	0.144
18	42260364	A	T	18	44680399	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0121899210442849	0.182
18	42260365	G	A	18	44680400	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00575643231138012	0.034
18	42260365	G	C	18	44680400	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00467959050776507	0.026
18	42260365	G	T	18	44680400	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00423470616009263	0.028
18	42260366	C	A	18	44680401	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00306486849404727	0.03
18	42260366	C	G	18	44680401	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00274178369450714	0.016
18	42260366	C	T	18	44680401	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00306486849404727	0.036
18	42260367	A	C	18	44680402	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.62586297388546E-4	0.004
18	42260367	A	G	18	44680402	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.62586297388546E-4	0.004
18	42260367	A	T	18	44680402	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.47500692515094E-4	0.0
18	42260368	C	A	18	44680403	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.11580311370781E-4	0.004
18	42260368	C	G	18	44680403	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.11580311370781E-4	0.004
18	42260368	C	T	18	44680403	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.91949659011321E-4	0.004
18	42260984	A	C	18	44681019	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	4.24034410467555E-4	0.002
18	42260984	A	G	18	44681019	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.0144781416098979	0.172
18	42260984	A	T	18	44681019	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.77741428331846	0.674
18	42260985	A	C	18	44681020	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.995802745109346	0.906
18	42260985	A	G	18	44681020	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.999074427607163	0.978
18	42260985	A	T	18	44681020	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.999430966497816	0.968
18	42260986	G	A	18	44681021	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.999972716789866	1.0
18	42260986	G	C	18	44681021	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.999992170680885	1.0
18	42260986	G	T	18	44681021	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.999966625234176	0.978
18	42260987	G	A	18	44681022	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999981247005408	0.942
18	42260987	G	C	18	44681022	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999951608398927	0.94
18	42260987	G	T	18	44681022	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999981247005408	0.94
18	42260988	T	A	18	44681023	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.9999899505819	0.928
18	42260988	T	C	18	44681023	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.994122161147804	0.632
18	42260988	T	G	18	44681023	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.9999899505819	0.926
18	42260989	T	A	18	44681024	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00190391429926986	0.094
18	42260989	T	C	18	44681024	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00651798253789463	0.148
18	42260989	T	G	18	44681024	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.78516169253855E-4	0.15
18	42260990	G	A	18	44681025	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.04126658422549E-4	0.046
18	42260990	G	C	18	44681025	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0127920972506038	0.214
18	42260990	G	T	18	44681025	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00697274619665871	0.13
18	42260991	G	A	18	44681026	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.999568371716297	0.998
18	42260991	G	C	18	44681026	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.999978133219088	0.992
18	42260991	G	T	18	44681026	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.999975504141747	0.982
18	42260992	T	A	18	44681027	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.990278086512009	0.788
18	42260992	T	C	18	44681027	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.982664082294335	0.884
18	42260992	T	G	18	44681027	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.987614817869263	0.894
18	42260993	G	A	18	44681028	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.29943509373892E-4	0.014
18	42260993	G	C	18	44681028	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00158468819251874	0.018
18	42260993	G	T	18	44681028	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.75547462876525E-4	0.01
18	42260994	T	A	18	44681029	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00194385758927618	0.064
18	42260994	T	C	18	44681029	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00675345139793741	0.048
18	42260994	T	G	18	44681029	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.018528648203886	0.04
18	42277305	C	A	18	44697340	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	1.46413180592529E-4	0.004
18	42277305	C	G	18	44697340	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	1.46413180592529E-4	0.01
18	42277305	C	T	18	44697340	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	1.44890220172881E-4	0.008
18	42277306	A	C	18	44697341	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	1.2331471065878E-4	0.0
18	42277306	A	G	18	44697341	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	1.2331471065878E-4	0.0
18	42277306	A	T	18	44697341	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	1.20200958252478E-4	0.002
18	42277307	G	A	18	44697342	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.0410793819238282	0.082
18	42277307	G	C	18	44697342	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.0243156145864903	0.086
18	42277307	G	T	18	44697342	n	y	intronic	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.0243156145864903	0.084
18	42277308	G	A	18	44697343	n	y	intronic	SETBP1	.	.	splicing	ENSG00000152217	.	.	1.44890220172881E-4	0.008
18	42277308	G	C	18	44697343	n	y	intronic	SETBP1	.	.	splicing	ENSG00000152217	.	.	1.46413180592529E-4	0.01
18	42277308	G	T	18	44697343	n	y	intronic	SETBP1	.	.	splicing	ENSG00000152217	.	.	1.46413180592529E-4	0.004
18	42277309	T	A	18	44697344	n	y	intronic	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.0122850908633762	0.03
18	42277309	T	C	18	44697344	n	y	intronic	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.0102248339650701	0.028
18	42277309	T	G	18	44697344	n	y	intronic	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.0102248339650701	0.03
18	42277310	T	A	18	44697345	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.89371736124219E-4	0.008
18	42277310	T	C	18	44697345	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.80257671126134E-4	0.012
18	42277310	T	G	18	44697345	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.80257671126134E-4	0.012
18	42277311	A	C	18	44697346	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.52408431330711E-4	0.036
18	42277311	A	G	18	44697346	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.16855814842379E-4	0.004
18	42277311	A	T	18	44697346	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.33698758487849E-4	0.022
18	42277312	G	A	18	44697347	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.10980080617083E-4	0.0
18	42277312	G	C	18	44697347	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.88774094828285E-5	0.0
18	42277312	G	T	18	44697347	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.10980080617083E-4	0.0
18	42277313	G	A	18	44697348	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.03056377962419E-4	0.014
18	42277313	G	C	18	44697348	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.11607729602943E-4	0.03
18	42277313	G	T	18	44697348	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.08042231235821E-4	0.028
18	42277314	T	A	18	44697349	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.006894648927926	0.022
18	42277314	T	C	18	44697349	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00676312259178108	0.02
18	42277314	T	G	18	44697349	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00676312259178108	0.022
18	42277315	T	A	18	44697350	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.00961143325455E-4	0.008
18	42277315	T	C	18	44697350	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.44101454748109E-4	0.004
18	42277315	T	G	18	44697350	n	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.44101454748109E-4	0.004
18	42281128	T	A	18	44701163	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.27050766233367E-4	0.064
18	42281128	T	C	18	44701163	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.78325354437763E-4	0.044
18	42281128	T	G	18	44701163	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00849508439778097	0.1
18	42281129	T	A	18	44701164	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00307392062807968	0.136
18	42281129	T	C	18	44701164	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.81188135873651E-4	0.058
18	42281129	T	G	18	44701164	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.04110423836434E-4	0.094
18	42281130	T	A	18	44701165	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.99982698354121	0.964
18	42281130	T	C	18	44701165	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.82777657688954E-4	0.008
18	42281130	T	G	18	44701165	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0573768313821748	0.162
18	42281131	G	A	18	44701166	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.32151481662221E-4	0.038
18	42281131	G	C	18	44701166	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.2538487214692E-4	0.042
18	42281131	G	T	18	44701166	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.28091721884544E-4	0.0
18	42281132	C	A	18	44701167	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.86336594266195E-4	0.04
18	42281132	C	G	18	44701167	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00522134936376553	0.072
18	42281132	C	T	18	44701167	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.49563853410062E-5	0.004
18	42281133	T	A	18	44701168	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0032056009500874	0.084
18	42281133	T	C	18	44701168	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.57322636195471E-4	0.006
18	42281133	T	G	18	44701168	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00948764646717998	0.084
18	42281134	T	A	18	44701169	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.22781462581206	0.32
18	42281134	T	C	18	44701169	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0019580313759825	0.024
18	42281134	T	G	18	44701169	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.191950470245369	0.362
18	42281135	C	A	18	44701170	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0851023846759061	0.09
18	42281135	C	G	18	44701170	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0292928489998052	0.118
18	42281135	C	T	18	44701170	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00113939977256035	0.07
18	42281136	T	A	18	44701171	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00110008423597739	0.012
18	42281136	T	C	18	44701171	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.74298696376457E-4	0.0
18	42281136	T	G	18	44701171	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.06851411402018E-4	0.0
18	42281137	C	A	18	44701172	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.990751570667375	0.794
18	42281137	C	G	18	44701172	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.999802500188309	0.906
18	42281137	C	T	18	44701172	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.113350445026421	0.086
18	42281138	A	C	18	44701173	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999988247793601	0.926
18	42281138	A	G	18	44701173	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999988247793601	0.926
18	42281138	A	T	18	44701173	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999988247793601	0.926
18	42281139	G	A	18	44701174	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999989483462543	0.926
18	42281139	G	C	18	44701174	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999989483462543	0.934
18	42281139	G	T	18	44701174	y	y	splicing	SETBP1	.	.	splicing	ENSG00000152217	.	.	0.999989483462543	0.934
18	42281140	T	A	18	44701175	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00260498346893087	0.078
18	42281140	T	C	18	44701175	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.0105827855214437	0.052
18	42281140	T	G	18	44701175	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.00317507655333128	0.074
18	42281141	T	A	18	44701176	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.198251215546731	0.312
18	42281141	T	C	18	44701176	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.0776605027135138	0.21
18	42281141	T	G	18	44701176	y	y	UTR5	SETBP1	.	.	UTR5	ENSG00000152217	.	.	0.0637017451568153	0.152
18	42281795	A	C	18	44701830	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon2:c.A484C:p.K162Q;SETBP1:NM_001130110:exon2:c.A484C:p.K162Q;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon2:c.A484C:p.K162Q;ENSG00000152217:ENST00000282030:exon2:c.A484C:p.K162Q;	0.571019865341967	0.492
18	42281795	A	G	18	44701830	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon2:c.A484G:p.K162E;SETBP1:NM_001130110:exon2:c.A484G:p.K162E;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon2:c.A484G:p.K162E;ENSG00000152217:ENST00000282030:exon2:c.A484G:p.K162E;	0.214957396383952	0.464
18	42281795	A	T	18	44701830	y	y	exonic	SETBP1	stopgain SNV	SETBP1:NM_015559:exon2:c.A484T:p.K162X;SETBP1:NM_001130110:exon2:c.A484T:p.K162X;	exonic	ENSG00000152217	stopgain SNV	ENSG00000152217:ENST00000426838:exon2:c.A484T:p.K162X;ENSG00000152217:ENST00000282030:exon2:c.A484T:p.K162X;	0.990803148416116	0.74
18	42281796	A	C	18	44701831	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon2:c.A485C:p.K162T;SETBP1:NM_001130110:exon2:c.A485C:p.K162T;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon2:c.A485C:p.K162T;ENSG00000152217:ENST00000282030:exon2:c.A485C:p.K162T;	0.999628927906456	0.978
18	42281796	A	G	18	44701831	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon2:c.A485G:p.K162R;SETBP1:NM_001130110:exon2:c.A485G:p.K162R;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon2:c.A485G:p.K162R;ENSG00000152217:ENST00000282030:exon2:c.A485G:p.K162R;	0.930908211393348	0.618
18	42281796	A	T	18	44701831	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon2:c.A485T:p.K162M;SETBP1:NM_001130110:exon2:c.A485T:p.K162M;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon2:c.A485T:p.K162M;ENSG00000152217:ENST00000282030:exon2:c.A485T:p.K162M;	0.999852546017682	0.992
18	42281797	G	A	18	44701832	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon2:c.G486A:p.K162K;SETBP1:NM_001130110:exon2:c.G486A:p.K162K;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000426838:exon2:c.G486A:p.K162K;ENSG00000152217:ENST00000282030:exon2:c.G486A:p.K162K;	0.999906261865174	1.0
18	42281797	G	C	18	44701832	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon2:c.G486C:p.K162N;SETBP1:NM_001130110:exon2:c.G486C:p.K162N;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon2:c.G486C:p.K162N;ENSG00000152217:ENST00000282030:exon2:c.G486C:p.K162N;	0.999998712411484	1.0
18	42281797	G	T	18	44701832	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon2:c.G486T:p.K162N;SETBP1:NM_001130110:exon2:c.G486T:p.K162N;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon2:c.G486T:p.K162N;ENSG00000152217:ENST00000282030:exon2:c.G486T:p.K162N;	0.999994093394155	1.0
18	42281798	G	A	18	44701833	y	y	splicing	SETBP1(NM_001130110:exon2:c.486+1G>A;NM_015559:exon2:c.486+1G>A)	.	.	splicing	ENSG00000152217(ENST00000426838:exon2:c.486+1G>A;ENST00000282030:exon2:c.486+1G>A)	.	.	0.999986675681007	0.932
18	42281798	G	C	18	44701833	y	y	splicing	SETBP1(NM_001130110:exon2:c.486+1G>C;NM_015559:exon2:c.486+1G>C)	.	.	splicing	ENSG00000152217(ENST00000426838:exon2:c.486+1G>C;ENST00000282030:exon2:c.486+1G>C)	.	.	0.999986675681007	0.932
18	42281798	G	T	18	44701833	y	y	splicing	SETBP1(NM_001130110:exon2:c.486+1G>T;NM_015559:exon2:c.486+1G>T)	.	.	splicing	ENSG00000152217(ENST00000426838:exon2:c.486+1G>T;ENST00000282030:exon2:c.486+1G>T)	.	.	0.999986675681007	0.932
18	42281799	T	A	18	44701834	y	y	splicing	SETBP1(NM_001130110:exon2:c.486+2T>A;NM_015559:exon2:c.486+2T>A)	.	.	splicing	ENSG00000152217(ENST00000426838:exon2:c.486+2T>A;ENST00000282030:exon2:c.486+2T>A)	.	.	0.999988247793601	0.928
18	42281799	T	C	18	44701834	y	y	splicing	SETBP1(NM_001130110:exon2:c.486+2T>C;NM_015559:exon2:c.486+2T>C)	.	.	splicing	ENSG00000152217(ENST00000426838:exon2:c.486+2T>C;ENST00000282030:exon2:c.486+2T>C)	.	.	0.994669226766359	0.634
18	42281799	T	G	18	44701834	y	y	splicing	SETBP1(NM_001130110:exon2:c.486+2T>G;NM_015559:exon2:c.486+2T>G)	.	.	splicing	ENSG00000152217(ENST00000426838:exon2:c.486+2T>G;ENST00000282030:exon2:c.486+2T>G)	.	.	0.999988247793601	0.928
18	42281800	A	C	18	44701835	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.997769477181315	0.912
18	42281800	A	G	18	44701835	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.983933243542913	0.85
18	42281800	A	T	18	44701835	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.998099137294151	0.91
18	42281801	G	A	18	44701836	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00103920058571596	0.076
18	42281801	G	C	18	44701836	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00621550585261097	0.248
18	42281801	G	T	18	44701836	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00284977891405738	0.118
18	42281802	G	A	18	44701837	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.959497208359962	0.704
18	42281802	G	C	18	44701837	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.99252073249508	0.798
18	42281802	G	T	18	44701837	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.999632369742233	0.884
18	42281803	A	C	18	44701838	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.09695215110502E-4	0.018
18	42281803	A	G	18	44701838	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.09031030851879E-5	0.0
18	42281803	A	T	18	44701838	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.07118115707214E-5	0.008
18	42281804	A	C	18	44701839	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.22481145991208E-5	0.0
18	42281804	A	G	18	44701839	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.81614015199566E-5	0.0
18	42281804	A	T	18	44701839	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.28475376997949E-5	0.0
18	42281805	G	A	18	44701840	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.12868614267855E-5	0.0
18	42281805	G	C	18	44701840	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.41430284832568E-5	0.002
18	42281805	G	T	18	44701840	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.23579400300037E-5	0.002
18	42449183	A	C	18	44869218	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.83559129380614E-6	0.0
18	42449183	A	G	18	44869218	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.03290295491789E-5	0.004
18	42449183	A	T	18	44869218	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.27518104229534E-5	0.0
18	42449184	T	A	18	44869219	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00106901308906184	0.156
18	42449184	T	C	18	44869219	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.18914252347537E-4	0.02
18	42449184	T	G	18	44869219	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.998855576229499	0.904
18	42449185	T	A	18	44869220	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00105079916467418	0.254
18	42449185	T	C	18	44869220	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.92019913067495E-4	0.044
18	42449185	T	G	18	44869220	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00128748693274815	0.222
18	42449186	C	A	18	44869221	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.69889482703356E-5	0.01
18	42449186	C	G	18	44869221	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.44496843110501E-5	0.01
18	42449186	C	T	18	44869221	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.1777706957324E-5	0.0
18	42449187	T	A	18	44869222	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00123702932081697	0.106
18	42449187	T	C	18	44869222	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.50621256288991E-4	0.038
18	42449187	T	G	18	44869222	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00123702932081697	0.094
18	42449188	T	A	18	44869223	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.5741817105719E-4	0.016
18	42449188	T	C	18	44869223	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.7911339886713E-4	0.014
18	42449188	T	G	18	44869223	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.40009369434446E-4	0.022
18	42449189	T	A	18	44869224	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00107181551566249	0.156
18	42449189	T	C	18	44869224	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.56575849954954E-4	0.048
18	42449189	T	G	18	44869224	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.5797190610804E-4	0.174
18	42449190	T	A	18	44869225	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.998858432599067	0.916
18	42449190	T	C	18	44869225	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.18681449410739E-4	0.014
18	42449190	T	G	18	44869225	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00199758174898126	0.18
18	42449191	G	A	18	44869226	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.80908507026471E-6	0.0
18	42449191	G	C	18	44869226	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.6526619805871E-5	0.006
18	42449191	G	T	18	44869226	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.5371634616289E-5	0.044
18	42449192	C	A	18	44869227	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.246743895853957	0.5
18	42449192	C	G	18	44869227	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.998652544317696	0.826
18	42449192	C	T	18	44869227	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.49587989899897E-4	0.068
18	42449193	A	C	18	44869228	y	y	splicing	SETBP1(NM_001130110:exon3:c.487-2A>C;NM_015559:exon3:c.487-2A>C)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.487-2A>C;ENST00000282030:exon3:c.487-2A>C)	.	.	0.9999784785434	0.944
18	42449193	A	G	18	44869228	y	y	splicing	SETBP1(NM_001130110:exon3:c.487-2A>G;NM_015559:exon3:c.487-2A>G)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.487-2A>G;ENST00000282030:exon3:c.487-2A>G)	.	.	0.9999784785434	0.944
18	42449193	A	T	18	44869228	y	y	splicing	SETBP1(NM_001130110:exon3:c.487-2A>T;NM_015559:exon3:c.487-2A>T)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.487-2A>T;ENST00000282030:exon3:c.487-2A>T)	.	.	0.9999784785434	0.946
18	42449194	G	A	18	44869229	y	y	splicing	SETBP1(NM_001130110:exon3:c.487-1G>A;NM_015559:exon3:c.487-1G>A)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.487-1G>A;ENST00000282030:exon3:c.487-1G>A)	.	.	0.99994568797423	0.934
18	42449194	G	C	18	44869229	y	y	splicing	SETBP1(NM_001130110:exon3:c.487-1G>C;NM_015559:exon3:c.487-1G>C)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.487-1G>C;ENST00000282030:exon3:c.487-1G>C)	.	.	0.99994568797423	0.946
18	42449194	G	T	18	44869229	y	y	splicing	SETBP1(NM_001130110:exon3:c.487-1G>T;NM_015559:exon3:c.487-1G>T)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.487-1G>T;ENST00000282030:exon3:c.487-1G>T)	.	.	0.99994568797423	0.946
18	42449195	C	A	18	44869230	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.C487A:p.L163I;SETBP1:NM_001130110:exon3:c.C487A:p.L163I;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.C487A:p.L163I;ENSG00000152217:ENST00000282030:exon3:c.C487A:p.L163I;	0.00139099465089196	0.008
18	42449195	C	G	18	44869230	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.C487G:p.L163V;SETBP1:NM_001130110:exon3:c.C487G:p.L163V;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.C487G:p.L163V;ENSG00000152217:ENST00000282030:exon3:c.C487G:p.L163V;	9.52145012307512E-4	0.088
18	42449195	C	T	18	44869230	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.C487T:p.L163F;SETBP1:NM_001130110:exon3:c.C487T:p.L163F;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.C487T:p.L163F;ENSG00000152217:ENST00000282030:exon3:c.C487T:p.L163F;	0.0437773864181493	0.26
18	42449196	T	A	18	44869231	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.T488A:p.L163H;SETBP1:NM_001130110:exon3:c.T488A:p.L163H;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.T488A:p.L163H;ENSG00000152217:ENST00000282030:exon3:c.T488A:p.L163H;	0.362316619210923	0.352
18	42449196	T	C	18	44869231	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.T488C:p.L163P;SETBP1:NM_001130110:exon3:c.T488C:p.L163P;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.T488C:p.L163P;ENSG00000152217:ENST00000282030:exon3:c.T488C:p.L163P;	0.191970818443159	0.32
18	42449196	T	G	18	44869231	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.T488G:p.L163R;SETBP1:NM_001130110:exon3:c.T488G:p.L163R;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.T488G:p.L163R;ENSG00000152217:ENST00000282030:exon3:c.T488G:p.L163R;	0.210645727793323	0.268
18	42449246	C	A	18	44869281	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.C538A:p.Q180K;SETBP1:NM_001130110:exon3:c.C538A:p.Q180K;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.C538A:p.Q180K;ENSG00000152217:ENST00000282030:exon3:c.C538A:p.Q180K;	0.813397682133883	0.604
18	42449246	C	G	18	44869281	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.C538G:p.Q180E;SETBP1:NM_001130110:exon3:c.C538G:p.Q180E;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.C538G:p.Q180E;ENSG00000152217:ENST00000282030:exon3:c.C538G:p.Q180E;	0.475523727509637	0.468
18	42449246	C	T	18	44869281	y	y	exonic	SETBP1	stopgain SNV	SETBP1:NM_015559:exon3:c.C538T:p.Q180X;SETBP1:NM_001130110:exon3:c.C538T:p.Q180X;	exonic	ENSG00000152217	stopgain SNV	ENSG00000152217:ENST00000426838:exon3:c.C538T:p.Q180X;ENSG00000152217:ENST00000282030:exon3:c.C538T:p.Q180X;	0.99378547273067	0.616
18	42449247	A	C	18	44869282	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.A539C:p.Q180P;SETBP1:NM_001130110:exon3:c.A539C:p.Q180P;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.A539C:p.Q180P;ENSG00000152217:ENST00000282030:exon3:c.A539C:p.Q180P;	0.987694384689621	0.7
18	42449247	A	G	18	44869282	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.A539G:p.Q180R;SETBP1:NM_001130110:exon3:c.A539G:p.Q180R;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.A539G:p.Q180R;ENSG00000152217:ENST00000282030:exon3:c.A539G:p.Q180R;	0.981437687981966	0.644
18	42449247	A	T	18	44869282	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.A539T:p.Q180L;SETBP1:NM_001130110:exon3:c.A539T:p.Q180L;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.A539T:p.Q180L;ENSG00000152217:ENST00000282030:exon3:c.A539T:p.Q180L;	0.926259801222875	0.586
18	42449248	G	A	18	44869283	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon3:c.G540A:p.Q180Q;SETBP1:NM_001130110:exon3:c.G540A:p.Q180Q;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.G540A:p.Q180Q;ENSG00000152217:ENST00000282030:exon3:c.G540A:p.Q180Q;	0.0999539835083662	0.328
18	42449248	G	C	18	44869283	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.G540C:p.Q180H;SETBP1:NM_001130110:exon3:c.G540C:p.Q180H;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.G540C:p.Q180H;ENSG00000152217:ENST00000282030:exon3:c.G540C:p.Q180H;	0.818752225526991	0.604
18	42449248	G	T	18	44869283	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon3:c.G540T:p.Q180H;SETBP1:NM_001130110:exon3:c.G540T:p.Q180H;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon3:c.G540T:p.Q180H;ENSG00000152217:ENST00000282030:exon3:c.G540T:p.Q180H;	0.760341125614711	0.45
18	42449249	G	A	18	44869284	y	y	splicing	SETBP1(NM_001130110:exon3:c.540+1G>A;NM_015559:exon3:c.540+1G>A)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.540+1G>A;ENST00000282030:exon3:c.540+1G>A)	.	.	0.999988247793601	0.934
18	42449249	G	C	18	44869284	y	y	splicing	SETBP1(NM_001130110:exon3:c.540+1G>C;NM_015559:exon3:c.540+1G>C)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.540+1G>C;ENST00000282030:exon3:c.540+1G>C)	.	.	0.999988247793601	0.934
18	42449249	G	T	18	44869284	y	y	splicing	SETBP1(NM_001130110:exon3:c.540+1G>T;NM_015559:exon3:c.540+1G>T)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.540+1G>T;ENST00000282030:exon3:c.540+1G>T)	.	.	0.999988247793601	0.934
18	42449250	T	A	18	44869285	y	y	splicing	SETBP1(NM_001130110:exon3:c.540+2T>A;NM_015559:exon3:c.540+2T>A)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.540+2T>A;ENST00000282030:exon3:c.540+2T>A)	.	.	0.999993519952936	0.928
18	42449250	T	C	18	44869285	y	y	splicing	SETBP1(NM_001130110:exon3:c.540+2T>C;NM_015559:exon3:c.540+2T>C)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.540+2T>C;ENST00000282030:exon3:c.540+2T>C)	.	.	0.988502993399679	0.586
18	42449250	T	G	18	44869285	y	y	splicing	SETBP1(NM_001130110:exon3:c.540+2T>G;NM_015559:exon3:c.540+2T>G)	.	.	splicing	ENSG00000152217(ENST00000426838:exon3:c.540+2T>G;ENST00000282030:exon3:c.540+2T>G)	.	.	0.999993519952936	0.928
18	42449251	A	C	18	44869286	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.582938814990285	0.546
18	42449251	A	G	18	44869286	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00941733440145967	0.054
18	42449251	A	T	18	44869286	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.530787760344806	0.464
18	42449252	A	C	18	44869287	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.142423281615759	0.288
18	42449252	A	G	18	44869287	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.305830436763104	0.4
18	42449252	A	T	18	44869287	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.252498594750736	0.262
18	42449253	G	A	18	44869288	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.698803200859955	0.618
18	42449253	G	C	18	44869288	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.750640934122704	0.618
18	42449253	G	T	18	44869288	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.875986742865197	0.694
18	42449254	T	A	18	44869289	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.31571106930186E-4	0.09
18	42449254	T	C	18	44869289	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00301579816668194	0.068
18	42449254	T	G	18	44869289	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.06979217581422E-5	0.046
18	42449255	T	A	18	44869290	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.01209109375653E-5	0.002
18	42449255	T	C	18	44869290	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.01209109375653E-5	0.0
18	42449255	T	G	18	44869290	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.64052984847775E-5	0.0
18	42449256	C	A	18	44869291	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.09774573448081E-5	0.0
18	42449256	C	G	18	44869291	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.09774573448081E-5	0.0
18	42449256	C	T	18	44869291	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.09774573448081E-5	0.002
18	42456518	C	A	18	44876553	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.7193643535011E-5	0.0
18	42456518	C	G	18	44876553	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.7193643535011E-5	0.0
18	42456518	C	T	18	44876553	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.64552434946285E-5	0.0
18	42456519	T	A	18	44876554	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.11017248087976E-4	0.008
18	42456519	T	C	18	44876554	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.22733753243156E-4	0.008
18	42456519	T	G	18	44876554	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.22733753243156E-4	0.008
18	42456520	C	A	18	44876555	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.64857229448119E-4	0.002
18	42456520	C	G	18	44876555	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.64857229448119E-4	0.002
18	42456520	C	T	18	44876555	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.64857229448119E-4	0.002
18	42456521	A	C	18	44876556	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.19909671294817E-5	0.0
18	42456521	A	G	18	44876556	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.19909671294817E-5	0.0
18	42456521	A	T	18	44876556	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.91219527972473E-5	0.0
18	42456522	T	A	18	44876557	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.20576206096585E-5	0.002
18	42456522	T	C	18	44876557	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.01212398005583E-5	0.0
18	42456522	T	G	18	44876557	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.01212398005583E-5	0.0
18	42456523	T	A	18	44876558	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.45112392561999E-4	0.026
18	42456523	T	C	18	44876558	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.47500150548744E-4	0.034
18	42456523	T	G	18	44876558	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.47500150548744E-4	0.068
18	42456524	T	A	18	44876559	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00430955476585136	0.038
18	42456524	T	C	18	44876559	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00430955476585136	0.024
18	42456524	T	G	18	44876559	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00430955476585136	0.026
18	42456525	T	A	18	44876560	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00127788430483434	0.026
18	42456525	T	C	18	44876560	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00127788430483434	0.028
18	42456525	T	G	18	44876560	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00127788430483434	0.062
18	42456526	C	A	18	44876561	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.9920955617261E-4	0.002
18	42456526	C	G	18	44876561	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.4916954340738E-4	0.004
18	42456526	C	T	18	44876561	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.07014656885049E-4	0.002
18	42456527	T	A	18	44876562	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.2785988104976E-4	0.014
18	42456527	T	C	18	44876562	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.2785988104976E-4	0.022
18	42456527	T	G	18	44876562	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.2785988104976E-4	0.022
18	42456528	A	C	18	44876563	y	y	splicing	SETBP1(NM_001130110:exon4:c.541-2A>C)	.	.	splicing	ENSG00000152217(ENST00000426838:exon4:c.541-2A>C)	.	.	9.23653024754591E-5	0.0
18	42456528	A	G	18	44876563	y	y	splicing	SETBP1(NM_001130110:exon4:c.541-2A>G)	.	.	splicing	ENSG00000152217(ENST00000426838:exon4:c.541-2A>G)	.	.	9.23653024754591E-5	0.0
18	42456528	A	T	18	44876563	y	y	splicing	SETBP1(NM_001130110:exon4:c.541-2A>T)	.	.	splicing	ENSG00000152217(ENST00000426838:exon4:c.541-2A>T)	.	.	1.40583297660189E-4	0.006
18	42456529	G	A	18	44876564	y	y	splicing	SETBP1(NM_001130110:exon4:c.541-1G>A)	.	.	splicing	ENSG00000152217(ENST00000426838:exon4:c.541-1G>A)	.	.	3.3073626554677E-4	0.006
18	42456529	G	C	18	44876564	y	y	splicing	SETBP1(NM_001130110:exon4:c.541-1G>C)	.	.	splicing	ENSG00000152217(ENST00000426838:exon4:c.541-1G>C)	.	.	2.18821402882975E-4	0.004
18	42456529	G	T	18	44876564	y	y	splicing	SETBP1(NM_001130110:exon4:c.541-1G>T)	.	.	splicing	ENSG00000152217(ENST00000426838:exon4:c.541-1G>T)	.	.	3.3073626554677E-4	0.008
18	42456530	A	C	18	44876565	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_001130110:exon4:c.A541C:p.I181L;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon4:c.A541C:p.I181L;	7.02110355052317E-5	0.0
18	42456530	A	G	18	44876565	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_001130110:exon4:c.A541G:p.I181V;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon4:c.A541G:p.I181V;	2.74891647094722E-5	0.006
18	42456530	A	T	18	44876565	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_001130110:exon4:c.A541T:p.I181F;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon4:c.A541T:p.I181F;	7.02110355052317E-5	0.0
18	42456531	T	A	18	44876566	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_001130110:exon4:c.T542A:p.I181N;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon4:c.T542A:p.I181N;	3.3410990456425E-4	0.004
18	42456531	T	C	18	44876566	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_001130110:exon4:c.T542C:p.I181T;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon4:c.T542C:p.I181T;	1.09960321947569E-4	0.0
18	42456531	T	G	18	44876566	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_001130110:exon4:c.T542G:p.I181S;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000426838:exon4:c.T542G:p.I181S;	5.30245828806351E-5	0.0
18	42529834	A	C	18	44949869	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.81722234496462E-5	0.056
18	42529834	A	G	18	44949869	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.10900015404225E-5	0.152
18	42529834	A	T	18	44949869	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.78749928346235E-5	0.024
18	42529835	C	A	18	44949870	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.61016619740543E-4	0.226
18	42529835	C	G	18	44949870	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.99962308380465	0.746
18	42529835	C	T	18	44949870	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.02946519060822E-4	0.05
18	42529836	C	A	18	44949871	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00439632087512347	0.164
18	42529836	C	G	18	44949871	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.17739462031449E-4	0.042
18	42529836	C	T	18	44949871	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.36883145895612E-5	0.098
18	42529837	C	A	18	44949872	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00134068603855351	0.236
18	42529837	C	G	18	44949872	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00147366673824314	0.274
18	42529837	C	T	18	44949872	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.7347438867717E-5	0.05
18	42529838	A	C	18	44949873	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.15297831843768E-4	0.09
18	42529838	A	G	18	44949873	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.53311230523209E-5	0.042
18	42529838	A	T	18	44949873	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.4534515720039E-5	0.062
18	42529839	C	A	18	44949874	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00590674172630588	0.112
18	42529839	C	G	18	44949874	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.999680586938937	0.716
18	42529839	C	T	18	44949874	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.88354918046172E-5	0.2
18	42529840	C	A	18	44949875	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.014179427270602	0.34
18	42529840	C	G	18	44949875	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.187285731450651	0.398
18	42529840	C	T	18	44949875	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.64236203900271E-5	0.102
18	42529841	C	A	18	44949876	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0022229982018739	0.2
18	42529841	C	G	18	44949876	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0263214388916814	0.264
18	42529841	C	T	18	44949876	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.07785654865511E-4	0.104
18	42529842	T	A	18	44949877	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.54890823039649E-5	0.02
18	42529842	T	C	18	44949877	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.10209839772516E-5	0.052
18	42529842	T	G	18	44949877	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.02508751820476E-5	0.018
18	42529843	T	A	18	44949878	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.449776011281256	0.51
18	42529843	T	C	18	44949878	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.47296560560971E-5	0.054
18	42529843	T	G	18	44949878	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.992356384851927	0.722
18	42529844	A	C	18	44949879	y	y	splicing	SETBP1(NM_015559:exon4:c.541-2A>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.541-2A>C)	.	.	0.999988247793601	0.93
18	42529844	A	G	18	44949879	y	y	splicing	SETBP1(NM_015559:exon4:c.541-2A>G)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.541-2A>G)	.	.	0.999988247793601	0.93
18	42529844	A	T	18	44949879	y	y	splicing	SETBP1(NM_015559:exon4:c.541-2A>T)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.541-2A>T)	.	.	0.999988247793601	0.93
18	42529845	G	A	18	44949880	y	y	splicing	SETBP1(NM_015559:exon4:c.541-1G>A)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.541-1G>A)	.	.	0.999990361384395	0.936
18	42529845	G	C	18	44949880	y	y	splicing	SETBP1(NM_015559:exon4:c.541-1G>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.541-1G>C)	.	.	0.999990361384395	0.936
18	42529845	G	T	18	44949880	y	y	splicing	SETBP1(NM_015559:exon4:c.541-1G>T)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.541-1G>T)	.	.	0.999990361384395	0.936
18	42529846	G	A	18	44949881	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.G541A:p.A181T;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.G541A:p.A181T;	0.611437019802073	0.518
18	42529846	G	C	18	44949881	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.G541C:p.A181P;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.G541C:p.A181P;	0.99974372702534	0.96
18	42529846	G	T	18	44949881	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.G541T:p.A181S;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.G541T:p.A181S;	0.977685838355668	0.622
18	42529847	C	A	18	44949882	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.C542A:p.A181D;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.C542A:p.A181D;	0.923155644498799	0.568
18	42529847	C	G	18	44949882	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.C542G:p.A181G;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.C542G:p.A181G;	0.0410154618297071	0.208
18	42529847	C	T	18	44949882	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.C542T:p.A181V;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.C542T:p.A181V;	0.00278881538416786	0.056
18	42533303	C	A	18	44953338	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.C3998A:p.P1333Q;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.C3998A:p.P1333Q;	0.960473652219463	0.758
18	42533303	C	G	18	44953338	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.C3998G:p.P1333R;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.C3998G:p.P1333R;	0.923078552346751	0.656
18	42533303	C	T	18	44953338	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.C3998T:p.P1333L;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.C3998T:p.P1333L;	0.998963087873149	0.72
18	42533304	A	C	18	44953339	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon4:c.A3999C:p.P1333P;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.A3999C:p.P1333P;	0.246350180325766	0.572
18	42533304	A	G	18	44953339	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon4:c.A3999G:p.P1333P;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.A3999G:p.P1333P;	0.253262144047008	0.468
18	42533304	A	T	18	44953339	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon4:c.A3999T:p.P1333P;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.A3999T:p.P1333P;	0.183488465258927	0.426
18	42533305	G	A	18	44953340	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.G4000A:p.G1334R;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.G4000A:p.G1334R;	0.999816169943923	0.944
18	42533305	G	C	18	44953340	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.G4000C:p.G1334R;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.G4000C:p.G1334R;	0.999952238537358	0.936
18	42533305	G	T	18	44953340	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.G4000T:p.G1334W;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon4:c.G4000T:p.G1334W;	0.999774251777922	0.92
18	42533306	G	A	18	44953341	y	y	splicing	SETBP1(NM_015559:exon4:c.4000+1G>A)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.4000+1G>A)	.	.	0.999990361384395	0.938
18	42533306	G	C	18	44953341	y	y	splicing	SETBP1(NM_015559:exon4:c.4000+1G>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.4000+1G>C)	.	.	0.999990361384395	0.938
18	42533306	G	T	18	44953341	y	y	splicing	SETBP1(NM_015559:exon4:c.4000+1G>T)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.4000+1G>T)	.	.	0.999990361384395	0.938
18	42533307	T	A	18	44953342	y	y	splicing	SETBP1(NM_015559:exon4:c.4000+2T>A)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.4000+2T>A)	.	.	0.999988247793601	0.932
18	42533307	T	C	18	44953342	y	y	splicing	SETBP1(NM_015559:exon4:c.4000+2T>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.4000+2T>C)	.	.	0.996388929962285	0.708
18	42533307	T	G	18	44953342	y	y	splicing	SETBP1(NM_015559:exon4:c.4000+2T>G)	.	.	splicing	ENSG00000152217(ENST00000282030:exon4:c.4000+2T>G)	.	.	0.999988247793601	0.932
18	42533308	A	C	18	44953343	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.998807630288155	0.954
18	42533308	A	G	18	44953343	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.861977866662621	0.444
18	42533308	A	T	18	44953343	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.997399733114624	0.886
18	42533309	A	C	18	44953344	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.947138709254352	0.812
18	42533309	A	G	18	44953344	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.995350507967286	0.862
18	42533309	A	T	18	44953344	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.980493652577796	0.846
18	42533310	G	A	18	44953345	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.994545526679469	0.77
18	42533310	G	C	18	44953345	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.971004216455197	0.736
18	42533310	G	T	18	44953345	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.992033232052249	0.752
18	42533311	G	A	18	44953346	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.95260298238369E-4	0.01
18	42533311	G	C	18	44953346	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.17108362749111E-4	0.048
18	42533311	G	T	18	44953346	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.86887529383489E-5	0.0
18	42533312	C	A	18	44953347	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.57141591396524E-4	0.054
18	42533312	C	G	18	44953347	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.90554931797843E-4	0.072
18	42533312	C	T	18	44953347	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.94052710230314E-4	0.024
18	42533313	T	A	18	44953348	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.52905497805962E-4	0.002
18	42533313	T	C	18	44953348	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.74418437292686E-4	0.002
18	42533313	T	G	18	44953348	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.52905497805962E-4	0.002
18	42618438	G	A	18	45038473	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.57839229763769E-5	0.002
18	42618438	G	C	18	45038473	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.12683587959745E-5	0.0
18	42618438	G	T	18	45038473	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.60721397730296E-5	0.0
18	42618439	T	A	18	45038474	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.990689573922996	0.824
18	42618439	T	C	18	45038474	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.101143177629972	0.324
18	42618439	T	G	18	45038474	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.89554718379461	0.698
18	42618440	T	A	18	45038475	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.887390106636126	0.712
18	42618440	T	C	18	45038475	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00272596587723221	0.024
18	42618440	T	G	18	45038475	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.755152373094126	0.658
18	42618441	A	C	18	45038476	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.03902364219252E-5	0.002
18	42618441	A	G	18	45038476	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.90253945858517E-5	0.004
18	42618441	A	T	18	45038476	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	5.50908551407855E-5	0.008
18	42618442	T	A	18	45038477	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.214055907375715	0.346
18	42618442	T	C	18	45038477	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.47632182364011E-4	0.032
18	42618442	T	G	18	45038477	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.999901463552017	0.982
18	42618443	T	A	18	45038478	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00427446633702734	0.064
18	42618443	T	C	18	45038478	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.95430545542601E-5	0.0
18	42618443	T	G	18	45038478	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	4.37541621835239E-4	0.048
18	42618444	T	A	18	45038479	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.626552761895591	0.502
18	42618444	T	C	18	45038479	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00335342953131289	0.094
18	42618444	T	G	18	45038479	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.821135142761227	0.53
18	42618445	T	A	18	45038480	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.971380648026315	0.656
18	42618445	T	C	18	45038480	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00483898804659798	0.02
18	42618445	T	G	18	45038480	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.981404359775638	0.634
18	42618446	T	A	18	45038481	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.87733822176615E-4	0.036
18	42618446	T	C	18	45038481	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.14716320249261E-4	0.01
18	42618446	T	G	18	45038481	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00164174186290212	0.02
18	42618447	T	A	18	45038482	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00599535220184292	0.234
18	42618447	T	C	18	45038482	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.05611184220737E-5	0.018
18	42618447	T	G	18	45038482	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.99488660687171	0.658
18	42618448	A	C	18	45038483	y	y	splicing	SETBP1(NM_015559:exon5:c.4001-2A>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4001-2A>C)	.	.	0.999988247793601	0.932
18	42618448	A	G	18	45038483	y	y	splicing	SETBP1(NM_015559:exon5:c.4001-2A>G)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4001-2A>G)	.	.	0.999988247793601	0.932
18	42618448	A	T	18	45038483	y	y	splicing	SETBP1(NM_015559:exon5:c.4001-2A>T)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4001-2A>T)	.	.	0.999988247793601	0.932
18	42618449	G	A	18	45038484	y	y	splicing	SETBP1(NM_015559:exon5:c.4001-1G>A)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4001-1G>A)	.	.	0.999990361384395	0.938
18	42618449	G	C	18	45038484	y	y	splicing	SETBP1(NM_015559:exon5:c.4001-1G>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4001-1G>C)	.	.	0.999990361384395	0.938
18	42618449	G	T	18	45038484	y	y	splicing	SETBP1(NM_015559:exon5:c.4001-1G>T)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4001-1G>T)	.	.	0.999990361384395	0.938
18	42618450	G	A	18	45038485	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.G4001A:p.G1334E;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4001A:p.G1334E;	0.998702306149788	0.92
18	42618450	G	C	18	45038485	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.G4001C:p.G1334A;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4001C:p.G1334A;	0.999815158517981	0.972
18	42618450	G	T	18	45038485	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.G4001T:p.G1334V;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4001T:p.G1334V;	0.999791347643578	0.99
18	42618451	G	A	18	45038486	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon5:c.G4002A:p.G1334G;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4002A:p.G1334G;	5.36036312236375E-5	0.0
18	42618451	G	C	18	45038486	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon5:c.G4002C:p.G1334G;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4002C:p.G1334G;	6.77453998344042E-5	0.002
18	42618451	G	T	18	45038486	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon5:c.G4002T:p.G1334G;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4002T:p.G1334G;	2.34459406170189E-5	0.0
18	42618618	C	A	18	45038653	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.C4169A:p.A1390E;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.C4169A:p.A1390E;	0.0115443382439717	0.108
18	42618618	C	G	18	45038653	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.C4169G:p.A1390G;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.C4169G:p.A1390G;	0.0220279305941431	0.166
18	42618618	C	T	18	45038653	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.C4169T:p.A1390V;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.C4169T:p.A1390V;	0.574675153440249	0.582
18	42618619	A	C	18	45038654	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon5:c.A4170C:p.A1390A;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.A4170C:p.A1390A;	0.474781840370061	0.574
18	42618619	A	G	18	45038654	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon5:c.A4170G:p.A1390A;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.A4170G:p.A1390A;	0.879873515571114	0.602
18	42618619	A	T	18	45038654	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon5:c.A4170T:p.A1390A;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.A4170T:p.A1390A;	0.838185620023077	0.724
18	42618620	G	A	18	45038655	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.G4171A:p.V1391I;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4171A:p.V1391I;	0.999942715883657	0.968
18	42618620	G	C	18	45038655	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.G4171C:p.V1391L;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4171C:p.V1391L;	0.99998038395567	0.944
18	42618620	G	T	18	45038655	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon5:c.G4171T:p.V1391F;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon5:c.G4171T:p.V1391F;	0.999716245311216	0.994
18	42618621	G	A	18	45038656	y	y	splicing	SETBP1(NM_015559:exon5:c.4171+1G>A)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4171+1G>A)	.	.	0.999985532734767	0.934
18	42618621	G	C	18	45038656	y	y	splicing	SETBP1(NM_015559:exon5:c.4171+1G>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4171+1G>C)	.	.	0.999985532734767	0.932
18	42618621	G	T	18	45038656	y	y	splicing	SETBP1(NM_015559:exon5:c.4171+1G>T)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4171+1G>T)	.	.	0.999985532734767	0.934
18	42618622	T	A	18	45038657	y	y	splicing	SETBP1(NM_015559:exon5:c.4171+2T>A)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4171+2T>A)	.	.	0.999988247793601	0.926
18	42618622	T	C	18	45038657	y	y	splicing	SETBP1(NM_015559:exon5:c.4171+2T>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4171+2T>C)	.	.	0.999929727175276	0.856
18	42618622	T	G	18	45038657	y	y	splicing	SETBP1(NM_015559:exon5:c.4171+2T>G)	.	.	splicing	ENSG00000152217(ENST00000282030:exon5:c.4171+2T>G)	.	.	0.999988247793601	0.914
18	42618623	G	A	18	45038658	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00136116708067797	0.034
18	42618623	G	C	18	45038658	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.868688652714123	0.546
18	42618623	G	T	18	45038658	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.915738669820559	0.572
18	42618624	A	C	18	45038659	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.178016239629589	0.272
18	42618624	A	G	18	45038659	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.17320042791077	0.316
18	42618624	A	T	18	45038659	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.823016011854912	0.504
18	42618625	G	A	18	45038660	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.992584769107969	0.828
18	42618625	G	C	18	45038660	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.924646510625878	0.658
18	42618625	G	T	18	45038660	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.997942425857091	0.816
18	42618626	C	A	18	45038661	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.92038391870295E-4	0.01
18	42618626	C	G	18	45038661	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.29019223108262E-4	0.03
18	42618626	C	T	18	45038661	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.88699414411415E-5	0.002
18	42618627	A	C	18	45038662	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	8.41472342842966E-5	0.046
18	42618627	A	G	18	45038662	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.53492155197012E-4	0.076
18	42618627	A	T	18	45038662	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.63569974999215E-4	0.044
18	42618628	C	A	18	45038663	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00226272597370761	0.082
18	42618628	C	G	18	45038663	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00226272597370761	0.052
18	42618628	C	T	18	45038663	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00205317860475312	0.034
18	42643032	C	A	18	45063067	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.76453293500473E-5	0.008
18	42643032	C	G	18	45063067	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.63828442636401E-5	0.022
18	42643032	C	T	18	45063067	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.27965925178514E-5	0.0
18	42643033	C	A	18	45063068	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.20012032701767E-4	0.036
18	42643033	C	G	18	45063068	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.51851875714789E-4	0.0
18	42643033	C	T	18	45063068	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.27915777459077E-5	0.006
18	42643034	C	A	18	45063069	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00238715445900645	0.052
18	42643034	C	G	18	45063069	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00116244995709722	0.034
18	42643034	C	T	18	45063069	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.50987112500297E-5	0.0
18	42643035	C	A	18	45063070	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0126039746893252	0.134
18	42643035	C	G	18	45063070	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00168710381620285	0.192
18	42643035	C	T	18	45063070	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.66591255820923E-5	0.0
18	42643036	T	A	18	45063071	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.65621029119938E-4	0.076
18	42643036	T	C	18	45063071	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.91041458810837E-5	0.002
18	42643036	T	G	18	45063071	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	3.2600612652474E-4	0.088
18	42643037	C	A	18	45063072	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.89608901161869E-4	0.064
18	42643037	C	G	18	45063072	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.12745433422507E-4	0.078
18	42643037	C	T	18	45063072	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.38744375249111E-5	0.0
18	42643038	C	A	18	45063073	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00131611507201019	0.146
18	42643038	C	G	18	45063073	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00122882674052512	0.148
18	42643038	C	T	18	45063073	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	2.45497226350623E-5	0.032
18	42643039	C	A	18	45063074	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.953331870517917	0.674
18	42643039	C	G	18	45063074	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	6.01925894331163E-4	0.2
18	42643039	C	T	18	45063074	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	9.2147414413908E-6	0.0
18	42643040	G	A	18	45063075	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	1.45269506329797E-4	0.13
18	42643040	G	C	18	45063075	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	7.79835698040262E-5	0.138
18	42643040	G	T	18	45063075	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.00117757489693576	0.136
18	42643041	C	A	18	45063076	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.996374376060176	0.772
18	42643041	C	G	18	45063076	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.999949999911283	0.898
18	42643041	C	T	18	45063076	y	y	intronic	SETBP1	.	.	intronic	ENSG00000152217	.	.	0.0148964886219762	0.212
18	42643042	A	C	18	45063077	y	y	splicing	SETBP1(NM_015559:exon6:c.4172-2A>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon6:c.4172-2A>C)	.	.	0.999972155025474	0.868
18	42643042	A	G	18	45063077	y	y	splicing	SETBP1(NM_015559:exon6:c.4172-2A>G)	.	.	splicing	ENSG00000152217(ENST00000282030:exon6:c.4172-2A>G)	.	.	0.999969255906173	0.868
18	42643042	A	T	18	45063077	y	y	splicing	SETBP1(NM_015559:exon6:c.4172-2A>T)	.	.	splicing	ENSG00000152217(ENST00000282030:exon6:c.4172-2A>T)	.	.	0.999972871252391	0.876
18	42643043	G	A	18	45063078	y	y	splicing	SETBP1(NM_015559:exon6:c.4172-1G>A)	.	.	splicing	ENSG00000152217(ENST00000282030:exon6:c.4172-1G>A)	.	.	0.99996748057446	0.904
18	42643043	G	C	18	45063078	y	y	splicing	SETBP1(NM_015559:exon6:c.4172-1G>C)	.	.	splicing	ENSG00000152217(ENST00000282030:exon6:c.4172-1G>C)	.	.	0.999968430223941	0.886
18	42643043	G	T	18	45063078	y	y	splicing	SETBP1(NM_015559:exon6:c.4172-1G>T)	.	.	splicing	ENSG00000152217(ENST00000282030:exon6:c.4172-1G>T)	.	.	0.999969242257053	0.876
18	42643044	T	A	18	45063079	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon6:c.T4172A:p.V1391D;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon6:c.T4172A:p.V1391D;	6.95844044239992E-5	0.02
18	42643044	T	C	18	45063079	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon6:c.T4172C:p.V1391A;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon6:c.T4172C:p.V1391A;	8.80213519689636E-5	0.052
18	42643044	T	G	18	45063079	y	y	exonic	SETBP1	nonsynonymous SNV	SETBP1:NM_015559:exon6:c.T4172G:p.V1391G;	exonic	ENSG00000152217	nonsynonymous SNV	ENSG00000152217:ENST00000282030:exon6:c.T4172G:p.V1391G;	3.37867996164018E-5	0.044
18	42643045	C	A	18	45063080	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon6:c.C4173A:p.V1391V;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon6:c.C4173A:p.V1391V;	3.31679525775066E-4	0.066
18	42643045	C	G	18	45063080	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon6:c.C4173G:p.V1391V;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon6:c.C4173G:p.V1391V;	2.67428514584049E-5	0.006
18	42643045	C	T	18	45063080	y	y	exonic	SETBP1	synonymous SNV	SETBP1:NM_015559:exon6:c.C4173T:p.V1391V;	exonic	ENSG00000152217	synonymous SNV	ENSG00000152217:ENST00000282030:exon6:c.C4173T:p.V1391V;	1.20355022005141E-5	0.0
18	43195509	A	C	18	45615544	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.03997877173435E-5	0.0
18	43195509	A	G	18	45615544	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.03997877173435E-5	0.0
18	43195509	A	T	18	45615544	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	9.16029726566022E-5	0.0
18	43195510	C	A	18	45615545	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	4.28766987286446E-5	0.008
18	43195510	C	G	18	45615545	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	4.28766987286446E-5	0.006
18	43195510	C	T	18	45615545	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	3.20639154229398E-5	0.012
18	43195511	T	A	18	45615546	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	9.16029726566022E-5	0.0
18	43195511	T	C	18	45615546	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.03997877173435E-5	0.0
18	43195511	T	G	18	45615546	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.03997877173435E-5	0.0
18	43195512	G	A	18	45615547	n	y	UTR5	SLC14A2	.	.	splicing	ENSG00000132874	.	.	4.28766987286446E-5	0.006
18	43195512	G	C	18	45615547	n	y	UTR5	SLC14A2	.	.	splicing	ENSG00000132874	.	.	1.80635910608335E-5	0.0
18	43195512	G	T	18	45615547	n	y	UTR5	SLC14A2	.	.	splicing	ENSG00000132874	.	.	3.76304668350645E-5	0.006
18	43195513	T	A	18	45615548	n	y	UTR5	SLC14A2	.	.	splicing	ENSG00000132874	.	.	6.7395485643605E-5	0.026
18	43195513	T	C	18	45615548	n	y	UTR5	SLC14A2	.	.	splicing	ENSG00000132874	.	.	6.7395485643605E-5	0.006
18	43195513	T	G	18	45615548	n	y	UTR5	SLC14A2	.	.	splicing	ENSG00000132874	.	.	6.7395485643605E-5	0.006
18	43195514	A	C	18	45615549	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.006
18	43195514	A	G	18	45615549	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.006
18	43195514	A	T	18	45615549	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.008
18	43195515	A	C	18	45615550	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.008
18	43195515	A	G	18	45615550	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.008
18	43195515	A	T	18	45615550	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.008
18	43195516	G	A	18	45615551	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	1.67406935090243E-5	0.0
18	43195516	G	C	18	45615551	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	1.67406935090243E-5	0.0
18	43195516	G	T	18	45615551	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	1.67406935090243E-5	0.0
18	43195517	T	A	18	45615552	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.006
18	43195517	T	C	18	45615552	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.9149404486172E-5	0.006
18	43195517	T	G	18	45615552	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.9149404486172E-5	0.006
18	43195518	T	A	18	45615553	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.006
18	43195518	T	C	18	45615553	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	2.83935518155002E-5	0.004
18	43195518	T	G	18	45615553	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	2.83935518155002E-5	0.004
18	43195519	T	A	18	45615554	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.7395485643605E-5	0.006
18	43195519	T	C	18	45615554	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	2.83935518155002E-5	0.002
18	43195519	T	G	18	45615554	n	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	2.83935518155002E-5	0.002
18	43195545	A	C	18	45615580	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	7.7661480579874E-5	0.0
18	43195545	A	G	18	45615580	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	0.00105688365143704	0.038
18	43195545	A	T	18	45615580	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	0.00266325037400452	0.134
18	43195546	G	A	18	45615581	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	6.0575608835753E-4	0.064
18	43195546	G	C	18	45615581	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.91705030312804E-5	0.0
18	43195546	G	T	18	45615581	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	1.06494365483212E-4	0.0
18	43195547	T	A	18	45615582	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	7.40013585355694E-5	0.0
18	43195547	T	C	18	45615582	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	2.64552041282495E-4	0.046
18	43195547	T	G	18	45615582	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	0.00116783902861415	0.112
18	43195548	G	A	18	45615583	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999980535492709	0.708
18	43195548	G	C	18	45615583	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999980535492709	0.698
18	43195548	G	T	18	45615583	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999980535492709	0.704
18	43195549	T	A	18	45615584	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999980535492709	0.73
18	43195549	T	C	18	45615584	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999850211707792	0.696
18	43195549	T	G	18	45615584	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999980535492709	0.716
18	43195550	G	A	18	45615585	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.67944982512943E-5	0.002
18	43195550	G	C	18	45615585	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.719394789834189	0.496
18	43195550	G	T	18	45615585	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.730259380292402	0.4
18	43195551	A	C	18	45615586	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998697563363271	0.786
18	43195551	A	G	18	45615586	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999907955502882	0.848
18	43195551	A	T	18	45615586	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999862062922959	0.834
18	43195552	G	A	18	45615587	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999970011238029	0.852
18	43195552	G	C	18	45615587	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999981499214198	0.78
18	43195552	G	T	18	45615587	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999951035760371	0.802
18	43195553	T	A	18	45615588	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.977180588019104	0.67
18	43195553	T	C	18	45615588	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.954024873119186	0.752
18	43195553	T	G	18	45615588	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.947524601645654	0.748
18	43195554	C	A	18	45615589	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.74776717826964E-5	0.004
18	43195554	C	G	18	45615589	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.28460777058297E-5	0.0
18	43195554	C	T	18	45615589	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.37947411471111E-4	0.036
18	43195555	A	C	18	45615590	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.89092389124759E-5	0.0
18	43195555	A	G	18	45615590	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.47571266877038E-5	0.0
18	43195555	A	T	18	45615590	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.83259482890117E-4	0.0
18	43204584	C	A	18	45624619	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0256389182553358	0.108
18	43204584	C	G	18	45624619	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00462289607267245	0.114
18	43204584	C	T	18	45624619	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.20227459906628E-4	0.0
18	43204585	C	A	18	45624620	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00623386504423565	0.098
18	43204585	C	G	18	45624620	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00177858970509051	0.16
18	43204585	C	T	18	45624620	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.47927497457302E-4	0.0
18	43204586	T	A	18	45624621	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.74130419568871E-4	0.066
18	43204586	T	C	18	45624621	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.29966460930204E-4	0.004
18	43204586	T	G	18	45624621	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00230849966446186	0.088
18	43204587	T	A	18	45624622	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00132130525413425	0.076
18	43204587	T	C	18	45624622	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.2667105767504E-4	0.026
18	43204587	T	G	18	45624622	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00148629925521407	0.06
18	43204588	C	A	18	45624623	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.60716537250477E-4	0.09
18	43204588	C	G	18	45624623	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.50333520125051E-4	0.094
18	43204588	C	T	18	45624623	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.13994604139091E-5	0.002
18	43204589	C	A	18	45624624	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.713936412703664	0.494
18	43204589	C	G	18	45624624	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.31813324868148E-5	0.01
18	43204589	C	T	18	45624624	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.59263380380195E-5	0.002
18	43204590	G	A	18	45624625	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.4517681856597E-4	0.012
18	43204590	G	C	18	45624625	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.64305550328267E-5	0.004
18	43204590	G	T	18	45624625	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.65047354028333E-5	0.0
18	43204591	T	A	18	45624626	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.91948098758006E-4	0.116
18	43204591	T	C	18	45624626	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.75572723768975E-5	0.012
18	43204591	T	G	18	45624626	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00218773132791164	0.12
18	43204592	C	A	18	45624627	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.842296526628E-5	0.004
18	43204592	C	G	18	45624627	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.89533566527763E-5	0.002
18	43204592	C	T	18	45624627	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.81574871887481E-5	0.0
18	43204593	T	A	18	45624628	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0337020514007953	0.34
18	43204593	T	C	18	45624628	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.30195621507382E-5	0.002
18	43204593	T	G	18	45624628	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.966081043693636	0.716
18	43204594	A	C	18	45624629	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999988860943177	0.71
18	43204594	A	G	18	45624629	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999988860943177	0.71
18	43204594	A	T	18	45624629	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.99998647997004	0.714
18	43204595	G	A	18	45624630	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999940351765486	0.764
18	43204595	G	C	18	45624630	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999940351765486	0.76
18	43204595	G	T	18	45624630	y	y	splicing	SLC14A2	.	.	splicing	ENSG00000132874	.	.	0.999940351765486	0.762
18	43204596	T	A	18	45624631	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	1.35176480286442E-5	0.0
18	43204596	T	C	18	45624631	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.85662691181516E-5	0.004
18	43204596	T	G	18	45624631	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	4.92838913868791E-5	0.07
18	43204597	C	A	18	45624632	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	5.74829443102652E-5	0.004
18	43204597	C	G	18	45624632	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	7.40173270250616E-6	0.002
18	43204597	C	T	18	45624632	y	y	UTR5	SLC14A2	.	.	UTR5	ENSG00000132874	.	.	9.09740216807318E-6	0.0
18	43204777	A	C	18	45624812	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon3:c.A148C:p.K50Q;SLC14A2:NM_007163:exon2:c.A148C:p.K50Q;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon2:c.A148C:p.K50Q;ENSG00000132874:ENST00000255226:exon2:c.A148C:p.K50Q;ENSG00000132874:ENST00000586448:exon3:c.A148C:p.K50Q;	0.0100673292302849	0.038
18	43204777	A	G	18	45624812	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon3:c.A148G:p.K50E;SLC14A2:NM_007163:exon2:c.A148G:p.K50E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon2:c.A148G:p.K50E;ENSG00000132874:ENST00000255226:exon2:c.A148G:p.K50E;ENSG00000132874:ENST00000586448:exon3:c.A148G:p.K50E;	0.0891915674520034	0.362
18	43204777	A	T	18	45624812	y	y	exonic	SLC14A2	stopgain SNV	SLC14A2:NM_001242692:exon3:c.A148T:p.K50X;SLC14A2:NM_007163:exon2:c.A148T:p.K50X;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000323329:exon2:c.A148T:p.K50X;ENSG00000132874:ENST00000255226:exon2:c.A148T:p.K50X;ENSG00000132874:ENST00000586448:exon3:c.A148T:p.K50X;	0.908947403725101	0.638
18	43204778	A	C	18	45624813	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon3:c.A149C:p.K50T;SLC14A2:NM_007163:exon2:c.A149C:p.K50T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon2:c.A149C:p.K50T;ENSG00000132874:ENST00000255226:exon2:c.A149C:p.K50T;ENSG00000132874:ENST00000586448:exon3:c.A149C:p.K50T;	0.994081187547473	0.93
18	43204778	A	G	18	45624813	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon3:c.A149G:p.K50R;SLC14A2:NM_007163:exon2:c.A149G:p.K50R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon2:c.A149G:p.K50R;ENSG00000132874:ENST00000255226:exon2:c.A149G:p.K50R;ENSG00000132874:ENST00000586448:exon3:c.A149G:p.K50R;	0.99628793993956	0.898
18	43204778	A	T	18	45624813	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon3:c.A149T:p.K50M;SLC14A2:NM_007163:exon2:c.A149T:p.K50M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon2:c.A149T:p.K50M;ENSG00000132874:ENST00000255226:exon2:c.A149T:p.K50M;ENSG00000132874:ENST00000586448:exon3:c.A149T:p.K50M;	0.99675480736567	0.906
18	43204779	G	A	18	45624814	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon3:c.G150A:p.K50K;SLC14A2:NM_007163:exon2:c.G150A:p.K50K;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon2:c.G150A:p.K50K;ENSG00000132874:ENST00000255226:exon2:c.G150A:p.K50K;ENSG00000132874:ENST00000586448:exon3:c.G150A:p.K50K;	0.996549323029563	0.936
18	43204779	G	C	18	45624814	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon3:c.G150C:p.K50N;SLC14A2:NM_007163:exon2:c.G150C:p.K50N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon2:c.G150C:p.K50N;ENSG00000132874:ENST00000255226:exon2:c.G150C:p.K50N;ENSG00000132874:ENST00000586448:exon3:c.G150C:p.K50N;	0.999990702080117	0.99
18	43204779	G	T	18	45624814	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon3:c.G150T:p.K50N;SLC14A2:NM_007163:exon2:c.G150T:p.K50N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon2:c.G150T:p.K50N;ENSG00000132874:ENST00000255226:exon2:c.G150T:p.K50N;ENSG00000132874:ENST00000586448:exon3:c.G150T:p.K50N;	0.999965803937081	0.994
18	43204780	G	A	18	45624815	y	y	splicing	SLC14A2(NM_001242692:exon3:c.150+1G>A;NM_007163:exon2:c.150+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon3:c.150+1G>A;ENST00000255226:exon2:c.150+1G>A;ENST00000323329:exon2:c.150+1G>A)	.	.	0.99994568797423	0.938
18	43204780	G	C	18	45624815	y	y	splicing	SLC14A2(NM_001242692:exon3:c.150+1G>C;NM_007163:exon2:c.150+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon3:c.150+1G>C;ENST00000255226:exon2:c.150+1G>C;ENST00000323329:exon2:c.150+1G>C)	.	.	0.99994568797423	0.944
18	43204780	G	T	18	45624815	y	y	splicing	SLC14A2(NM_001242692:exon3:c.150+1G>T;NM_007163:exon2:c.150+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon3:c.150+1G>T;ENST00000255226:exon2:c.150+1G>T;ENST00000323329:exon2:c.150+1G>T)	.	.	0.99994568797423	0.944
18	43204781	T	A	18	45624816	y	y	splicing	SLC14A2(NM_001242692:exon3:c.150+2T>A;NM_007163:exon2:c.150+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon3:c.150+2T>A;ENST00000255226:exon2:c.150+2T>A;ENST00000323329:exon2:c.150+2T>A)	.	.	0.9999784785434	0.936
18	43204781	T	C	18	45624816	y	y	splicing	SLC14A2(NM_001242692:exon3:c.150+2T>C;NM_007163:exon2:c.150+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon3:c.150+2T>C;ENST00000255226:exon2:c.150+2T>C;ENST00000323329:exon2:c.150+2T>C)	.	.	0.99994719742404	0.884
18	43204781	T	G	18	45624816	y	y	splicing	SLC14A2(NM_001242692:exon3:c.150+2T>G;NM_007163:exon2:c.150+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon3:c.150+2T>G;ENST00000255226:exon2:c.150+2T>G;ENST00000323329:exon2:c.150+2T>G)	.	.	0.999988510283643	0.934
18	43204782	G	A	18	45624817	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.89515150002386E-6	0.0
18	43204782	G	C	18	45624817	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00205845933575731	0.144
18	43204782	G	T	18	45624817	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00889204752153481	0.154
18	43204783	A	C	18	45624818	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.627944094177272	0.454
18	43204783	A	G	18	45624818	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.892014013152186	0.482
18	43204783	A	T	18	45624818	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.922396599673251	0.542
18	43204784	G	A	18	45624819	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.989556482640786	0.736
18	43204784	G	C	18	45624819	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.994104717324906	0.772
18	43204784	G	T	18	45624819	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.997186680928715	0.76
18	43204785	A	C	18	45624820	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.5951207666465E-5	0.004
18	43204785	A	G	18	45624820	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.92441164907997E-5	0.0
18	43204785	A	T	18	45624820	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.73887718748072E-5	0.0
18	43204786	A	C	18	45624821	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.79726403727995E-4	0.008
18	43204786	A	G	18	45624821	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.5469715340005E-4	0.0
18	43204786	A	T	18	45624821	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.001249887729815	0.008
18	43204787	G	A	18	45624822	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.3519283322177E-6	0.008
18	43204787	G	C	18	45624822	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.3519283322177E-6	0.0
18	43204787	G	T	18	45624822	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.46004206284423E-5	0.002
18	43205636	T	A	18	45625671	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.880189079505824	0.752
18	43205636	T	C	18	45625671	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0154998067248297	0.12
18	43205636	T	G	18	45625671	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.738678927480014	0.582
18	43205637	T	A	18	45625672	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.992511155627715	0.79
18	43205637	T	C	18	45625672	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.501989474652722	0.298
18	43205637	T	G	18	45625672	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.979356858443981	0.754
18	43205638	C	A	18	45625673	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0105485364906841	0.26
18	43205638	C	G	18	45625673	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.001726429391676	0.142
18	43205638	C	T	18	45625673	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.18258206610238E-5	0.044
18	43205639	T	A	18	45625674	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.978596250286452	0.726
18	43205639	T	C	18	45625674	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00598257513913839	0.072
18	43205639	T	G	18	45625674	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.821979552852537	0.68
18	43205640	C	A	18	45625675	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.504933692331697	0.388
18	43205640	C	G	18	45625675	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.261552014175292	0.394
18	43205640	C	T	18	45625675	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0498251772271083	0.186
18	43205641	C	A	18	45625676	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0034204380332466	0.106
18	43205641	C	G	18	45625676	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00638646340939869	0.116
18	43205641	C	T	18	45625676	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.80470977942254E-5	0.012
18	43205642	T	A	18	45625677	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0441842215325869	0.432
18	43205642	T	C	18	45625677	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.90300673235245E-5	0.062
18	43205642	T	G	18	45625677	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.147863930835497	0.48
18	43205643	A	C	18	45625678	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.03396216528082E-5	0.066
18	43205643	A	G	18	45625678	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.43096932754853E-4	0.022
18	43205643	A	T	18	45625678	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.05253631574088E-5	0.048
18	43205644	A	C	18	45625679	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00102750831097076	0.044
18	43205644	A	G	18	45625679	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.99952754909001	0.972
18	43205644	A	T	18	45625679	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00524446600748705	0.114
18	43205645	A	C	18	45625680	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00923829913958277	0.186
18	43205645	A	G	18	45625680	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.916034711248438	0.662
18	43205645	A	T	18	45625680	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0944563534400681	0.328
18	43205646	A	C	18	45625681	y	y	splicing	SLC14A2(NM_001242692:exon4:c.151-2A>C;NM_007163:exon3:c.151-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.151-2A>C;ENST00000255226:exon3:c.151-2A>C;ENST00000323329:exon3:c.151-2A>C)	.	.	0.999986741007567	0.946
18	43205646	A	G	18	45625681	y	y	splicing	SLC14A2(NM_001242692:exon4:c.151-2A>G;NM_007163:exon3:c.151-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.151-2A>G;ENST00000255226:exon3:c.151-2A>G;ENST00000323329:exon3:c.151-2A>G)	.	.	0.999986741007567	0.946
18	43205646	A	T	18	45625681	y	y	splicing	SLC14A2(NM_001242692:exon4:c.151-2A>T;NM_007163:exon3:c.151-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.151-2A>T;ENST00000255226:exon3:c.151-2A>T;ENST00000323329:exon3:c.151-2A>T)	.	.	0.999986741007567	0.946
18	43205647	G	A	18	45625682	y	y	splicing	SLC14A2(NM_001242692:exon4:c.151-1G>A;NM_007163:exon3:c.151-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.151-1G>A;ENST00000255226:exon3:c.151-1G>A;ENST00000323329:exon3:c.151-1G>A)	.	.	0.999989125585301	0.944
18	43205647	G	C	18	45625682	y	y	splicing	SLC14A2(NM_001242692:exon4:c.151-1G>C;NM_007163:exon3:c.151-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.151-1G>C;ENST00000255226:exon3:c.151-1G>C;ENST00000323329:exon3:c.151-1G>C)	.	.	0.999989125585301	0.944
18	43205647	G	T	18	45625682	y	y	splicing	SLC14A2(NM_001242692:exon4:c.151-1G>T;NM_007163:exon3:c.151-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.151-1G>T;ENST00000255226:exon3:c.151-1G>T;ENST00000323329:exon3:c.151-1G>T)	.	.	0.999989125585301	0.942
18	43205648	G	A	18	45625683	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.G151A:p.D51N;SLC14A2:NM_007163:exon3:c.G151A:p.D51N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.G151A:p.D51N;ENSG00000132874:ENST00000255226:exon3:c.G151A:p.D51N;ENSG00000132874:ENST00000586448:exon4:c.G151A:p.D51N;	0.364414390258051	0.416
18	43205648	G	C	18	45625683	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.G151C:p.D51H;SLC14A2:NM_007163:exon3:c.G151C:p.D51H;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.G151C:p.D51H;ENSG00000132874:ENST00000255226:exon3:c.G151C:p.D51H;ENSG00000132874:ENST00000586448:exon4:c.G151C:p.D51H;	0.661673136593515	0.612
18	43205648	G	T	18	45625683	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.G151T:p.D51Y;SLC14A2:NM_007163:exon3:c.G151T:p.D51Y;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.G151T:p.D51Y;ENSG00000132874:ENST00000255226:exon3:c.G151T:p.D51Y;ENSG00000132874:ENST00000586448:exon4:c.G151T:p.D51Y;	0.992334523919868	0.79
18	43205649	A	C	18	45625684	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.A152C:p.D51A;SLC14A2:NM_007163:exon3:c.A152C:p.D51A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A152C:p.D51A;ENSG00000132874:ENST00000255226:exon3:c.A152C:p.D51A;ENSG00000132874:ENST00000586448:exon4:c.A152C:p.D51A;	0.0218921649869633	0.148
18	43205649	A	G	18	45625684	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.A152G:p.D51G;SLC14A2:NM_007163:exon3:c.A152G:p.D51G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A152G:p.D51G;ENSG00000132874:ENST00000255226:exon3:c.A152G:p.D51G;ENSG00000132874:ENST00000586448:exon4:c.A152G:p.D51G;	0.00995766894905252	0.122
18	43205649	A	T	18	45625684	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.A152T:p.D51V;SLC14A2:NM_007163:exon3:c.A152T:p.D51V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A152T:p.D51V;ENSG00000132874:ENST00000255226:exon3:c.A152T:p.D51V;ENSG00000132874:ENST00000586448:exon4:c.A152T:p.D51V;	0.00106937099536263	0.03
18	43205826	A	C	18	45625861	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.A329C:p.K110T;SLC14A2:NM_007163:exon3:c.A329C:p.K110T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A329C:p.K110T;ENSG00000132874:ENST00000255226:exon3:c.A329C:p.K110T;ENSG00000132874:ENST00000586448:exon4:c.A329C:p.K110T;	4.90231890654243E-5	0.0
18	43205826	A	G	18	45625861	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.A329G:p.K110R;SLC14A2:NM_007163:exon3:c.A329G:p.K110R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A329G:p.K110R;ENSG00000132874:ENST00000255226:exon3:c.A329G:p.K110R;ENSG00000132874:ENST00000586448:exon4:c.A329G:p.K110R;	3.9817679933774E-5	0.036
18	43205826	A	T	18	45625861	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.A329T:p.K110I;SLC14A2:NM_007163:exon3:c.A329T:p.K110I;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A329T:p.K110I;ENSG00000132874:ENST00000255226:exon3:c.A329T:p.K110I;ENSG00000132874:ENST00000586448:exon4:c.A329T:p.K110I;	0.0122380730453502	0.388
18	43205827	A	C	18	45625862	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.A330C:p.K110N;SLC14A2:NM_007163:exon3:c.A330C:p.K110N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A330C:p.K110N;ENSG00000132874:ENST00000255226:exon3:c.A330C:p.K110N;ENSG00000132874:ENST00000586448:exon4:c.A330C:p.K110N;	0.999393124322439	0.974
18	43205827	A	G	18	45625862	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon4:c.A330G:p.K110K;SLC14A2:NM_007163:exon3:c.A330G:p.K110K;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A330G:p.K110K;ENSG00000132874:ENST00000255226:exon3:c.A330G:p.K110K;ENSG00000132874:ENST00000586448:exon4:c.A330G:p.K110K;	0.919238915136101	0.61
18	43205827	A	T	18	45625862	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.A330T:p.K110N;SLC14A2:NM_007163:exon3:c.A330T:p.K110N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.A330T:p.K110N;ENSG00000132874:ENST00000255226:exon3:c.A330T:p.K110N;ENSG00000132874:ENST00000586448:exon4:c.A330T:p.K110N;	0.999739423032602	0.994
18	43205828	G	A	18	45625863	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.G331A:p.D111N;SLC14A2:NM_007163:exon3:c.G331A:p.D111N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.G331A:p.D111N;ENSG00000132874:ENST00000255226:exon3:c.G331A:p.D111N;ENSG00000132874:ENST00000586448:exon4:c.G331A:p.D111N;	0.999982178569516	0.992
18	43205828	G	C	18	45625863	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.G331C:p.D111H;SLC14A2:NM_007163:exon3:c.G331C:p.D111H;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.G331C:p.D111H;ENSG00000132874:ENST00000255226:exon3:c.G331C:p.D111H;ENSG00000132874:ENST00000586448:exon4:c.G331C:p.D111H;	0.999978398207551	1.0
18	43205828	G	T	18	45625863	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon4:c.G331T:p.D111Y;SLC14A2:NM_007163:exon3:c.G331T:p.D111Y;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon3:c.G331T:p.D111Y;ENSG00000132874:ENST00000255226:exon3:c.G331T:p.D111Y;ENSG00000132874:ENST00000586448:exon4:c.G331T:p.D111Y;	0.99996931888863	1.0
18	43205829	G	A	18	45625864	y	y	splicing	SLC14A2(NM_001242692:exon4:c.331+1G>A;NM_007163:exon3:c.331+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.331+1G>A;ENST00000255226:exon3:c.331+1G>A;ENST00000323329:exon3:c.331+1G>A)	.	.	0.99995586615188	0.946
18	43205829	G	C	18	45625864	y	y	splicing	SLC14A2(NM_001242692:exon4:c.331+1G>C;NM_007163:exon3:c.331+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.331+1G>C;ENST00000255226:exon3:c.331+1G>C;ENST00000323329:exon3:c.331+1G>C)	.	.	0.99995586615188	0.94
18	43205829	G	T	18	45625864	y	y	splicing	SLC14A2(NM_001242692:exon4:c.331+1G>T;NM_007163:exon3:c.331+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.331+1G>T;ENST00000255226:exon3:c.331+1G>T;ENST00000323329:exon3:c.331+1G>T)	.	.	0.99995586615188	0.938
18	43205830	T	A	18	45625865	y	y	splicing	SLC14A2(NM_001242692:exon4:c.331+2T>A;NM_007163:exon3:c.331+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.331+2T>A;ENST00000255226:exon3:c.331+2T>A;ENST00000323329:exon3:c.331+2T>A)	.	.	0.999903621866699	0.866
18	43205830	T	C	18	45625865	y	y	splicing	SLC14A2(NM_001242692:exon4:c.331+2T>C;NM_007163:exon3:c.331+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.331+2T>C;ENST00000255226:exon3:c.331+2T>C;ENST00000323329:exon3:c.331+2T>C)	.	.	0.924637053167442	0.536
18	43205830	T	G	18	45625865	y	y	splicing	SLC14A2(NM_001242692:exon4:c.331+2T>G;NM_007163:exon3:c.331+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon4:c.331+2T>G;ENST00000255226:exon3:c.331+2T>G;ENST00000323329:exon3:c.331+2T>G)	.	.	0.999893588078984	0.874
18	43205831	A	C	18	45625866	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.990595027655265	0.764
18	43205831	A	G	18	45625866	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.65099292243464	0.444
18	43205831	A	T	18	45625866	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.983315611176609	0.744
18	43205832	G	A	18	45625867	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.31728189944443E-4	0.102
18	43205832	G	C	18	45625867	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.54862503240849E-5	0.028
18	43205832	G	T	18	45625867	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.08209454660634E-4	0.022
18	43205833	G	A	18	45625868	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.914607285932953	0.628
18	43205833	G	C	18	45625868	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.992005864335397	0.66
18	43205833	G	T	18	45625868	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999943358925676	0.774
18	43205834	A	C	18	45625869	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.30107387243409E-5	0.016
18	43205834	A	G	18	45625869	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.46901986060462E-5	0.0
18	43205834	A	T	18	45625869	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.99230262669968E-5	0.0
18	43205835	A	C	18	45625870	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.44312574922614E-5	0.002
18	43205835	A	G	18	45625870	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.80137299946668E-5	0.0
18	43205835	A	T	18	45625870	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.44312574922614E-5	0.0
18	43205836	A	C	18	45625871	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.29405757193836E-5	0.0
18	43205836	A	G	18	45625871	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.79287789866486E-5	0.0
18	43205836	A	T	18	45625871	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.29405757193836E-5	0.0
18	43206911	T	A	18	45626946	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999446827892185	0.93
18	43206911	T	C	18	45626946	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.32326576857306E-4	0.016
18	43206911	T	G	18	45626946	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00514146703538843	0.202
18	43206912	G	A	18	45626947	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.76908908631721E-5	0.0
18	43206912	G	C	18	45626947	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.12043854685718E-5	0.0
18	43206912	G	T	18	45626947	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.92017314592258E-5	0.0
18	43206913	T	A	18	45626948	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0607902807469038	0.3
18	43206913	T	C	18	45626948	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00235275822564813	0.108
18	43206913	T	G	18	45626948	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.021115758230979	0.298
18	43206914	C	A	18	45626949	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.65846934112462E-4	0.01
18	43206914	C	G	18	45626949	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.96060201696712E-4	0.016
18	43206914	C	T	18	45626949	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.64410897539792E-6	0.0
18	43206915	T	A	18	45626950	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0168345605839129	0.194
18	43206915	T	C	18	45626950	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00170406118924526	0.07
18	43206915	T	G	18	45626950	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00402224190130263	0.134
18	43206916	C	A	18	45626951	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00269228266146554	0.138
18	43206916	C	G	18	45626951	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.41253200711642E-4	0.128
18	43206916	C	T	18	45626951	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.01967334701656E-4	0.07
18	43206917	T	A	18	45626952	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0270944100765717	0.166
18	43206917	T	C	18	45626952	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.032013780192E-4	0.008
18	43206917	T	G	18	45626952	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.012392278239688	0.144
18	43206918	T	A	18	45626953	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.162137854609049	0.392
18	43206918	T	C	18	45626953	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00629266541138919	0.024
18	43206918	T	G	18	45626953	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.223168570935667	0.424
18	43206919	T	A	18	45626954	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.01586957776066E-5	0.0
18	43206919	T	C	18	45626954	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.90806510686763E-5	0.0
18	43206919	T	G	18	45626954	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.94616845083884E-5	0.0
18	43206920	C	A	18	45626955	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.916203377496023	0.668
18	43206920	C	G	18	45626955	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998913619408263	0.964
18	43206920	C	T	18	45626955	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0140279516037498	0.116
18	43206921	A	C	18	45626956	y	y	splicing	SLC14A2(NM_001242692:exon5:c.332-2A>C;NM_007163:exon4:c.332-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.332-2A>C;ENST00000255226:exon4:c.332-2A>C;ENST00000323329:exon4:c.332-2A>C)	.	.	0.999986472513537	0.928
18	43206921	A	G	18	45626956	y	y	splicing	SLC14A2(NM_001242692:exon5:c.332-2A>G;NM_007163:exon4:c.332-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.332-2A>G;ENST00000255226:exon4:c.332-2A>G;ENST00000323329:exon4:c.332-2A>G)	.	.	0.999986472513537	0.928
18	43206921	A	T	18	45626956	y	y	splicing	SLC14A2(NM_001242692:exon5:c.332-2A>T;NM_007163:exon4:c.332-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.332-2A>T;ENST00000255226:exon4:c.332-2A>T;ENST00000323329:exon4:c.332-2A>T)	.	.	0.999992446697775	0.926
18	43206922	G	A	18	45626957	y	y	splicing	SLC14A2(NM_001242692:exon5:c.332-1G>A;NM_007163:exon4:c.332-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.332-1G>A;ENST00000255226:exon4:c.332-1G>A;ENST00000323329:exon4:c.332-1G>A)	.	.	0.999988247793601	0.924
18	43206922	G	C	18	45626957	y	y	splicing	SLC14A2(NM_001242692:exon5:c.332-1G>C;NM_007163:exon4:c.332-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.332-1G>C;ENST00000255226:exon4:c.332-1G>C;ENST00000323329:exon4:c.332-1G>C)	.	.	0.999988247793601	0.924
18	43206922	G	T	18	45626957	y	y	splicing	SLC14A2(NM_001242692:exon5:c.332-1G>T;NM_007163:exon4:c.332-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.332-1G>T;ENST00000255226:exon4:c.332-1G>T;ENST00000323329:exon4:c.332-1G>T)	.	.	0.999988247793601	0.924
18	43206923	A	C	18	45626958	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.A332C:p.D111A;SLC14A2:NM_007163:exon4:c.A332C:p.D111A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.A332C:p.D111A;ENSG00000132874:ENST00000255226:exon4:c.A332C:p.D111A;ENSG00000132874:ENST00000586448:exon5:c.A332C:p.D111A;	0.321414389538898	0.426
18	43206923	A	G	18	45626958	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.A332G:p.D111G;SLC14A2:NM_007163:exon4:c.A332G:p.D111G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.A332G:p.D111G;ENSG00000132874:ENST00000255226:exon4:c.A332G:p.D111G;ENSG00000132874:ENST00000586448:exon5:c.A332G:p.D111G;	0.143861568653594	0.462
18	43206923	A	T	18	45626958	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.A332T:p.D111V;SLC14A2:NM_007163:exon4:c.A332T:p.D111V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.A332T:p.D111V;ENSG00000132874:ENST00000255226:exon4:c.A332T:p.D111V;ENSG00000132874:ENST00000586448:exon5:c.A332T:p.D111V;	0.432594420599069	0.356
18	43206924	C	A	18	45626959	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.C333A:p.D111E;SLC14A2:NM_007163:exon4:c.C333A:p.D111E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.C333A:p.D111E;ENSG00000132874:ENST00000255226:exon4:c.C333A:p.D111E;ENSG00000132874:ENST00000586448:exon5:c.C333A:p.D111E;	6.76749999933013E-6	0.01
18	43206924	C	G	18	45626959	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.C333G:p.D111E;SLC14A2:NM_007163:exon4:c.C333G:p.D111E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.C333G:p.D111E;ENSG00000132874:ENST00000255226:exon4:c.C333G:p.D111E;ENSG00000132874:ENST00000586448:exon5:c.C333G:p.D111E;	5.69561638587336E-6	0.016
18	43206924	C	T	18	45626959	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon5:c.C333T:p.D111D;SLC14A2:NM_007163:exon4:c.C333T:p.D111D;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.C333T:p.D111D;ENSG00000132874:ENST00000255226:exon4:c.C333T:p.D111D;ENSG00000132874:ENST00000586448:exon5:c.C333T:p.D111D;	1.32300095324426E-4	0.0
18	43207110	C	A	18	45627145	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.C519A:p.D173E;SLC14A2:NM_007163:exon4:c.C519A:p.D173E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.C519A:p.D173E;ENSG00000132874:ENST00000255226:exon4:c.C519A:p.D173E;ENSG00000132874:ENST00000586448:exon5:c.C519A:p.D173E;	0.920402269033163	0.798
18	43207110	C	G	18	45627145	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.C519G:p.D173E;SLC14A2:NM_007163:exon4:c.C519G:p.D173E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.C519G:p.D173E;ENSG00000132874:ENST00000255226:exon4:c.C519G:p.D173E;ENSG00000132874:ENST00000586448:exon5:c.C519G:p.D173E;	0.92533015785077	0.654
18	43207110	C	T	18	45627145	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon5:c.C519T:p.D173D;SLC14A2:NM_007163:exon4:c.C519T:p.D173D;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.C519T:p.D173D;ENSG00000132874:ENST00000255226:exon4:c.C519T:p.D173D;ENSG00000132874:ENST00000586448:exon5:c.C519T:p.D173D;	0.935312581735076	0.68
18	43207111	A	C	18	45627146	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon5:c.A520C:p.R174R;SLC14A2:NM_007163:exon4:c.A520C:p.R174R;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.A520C:p.R174R;ENSG00000132874:ENST00000255226:exon4:c.A520C:p.R174R;ENSG00000132874:ENST00000586448:exon5:c.A520C:p.R174R;	0.990164787329678	0.88
18	43207111	A	G	18	45627146	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.A520G:p.R174G;SLC14A2:NM_007163:exon4:c.A520G:p.R174G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.A520G:p.R174G;ENSG00000132874:ENST00000255226:exon4:c.A520G:p.R174G;ENSG00000132874:ENST00000586448:exon5:c.A520G:p.R174G;	0.999868978600528	0.996
18	43207111	A	T	18	45627146	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.A520T:p.R174W;SLC14A2:NM_007163:exon4:c.A520T:p.R174W;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.A520T:p.R174W;ENSG00000132874:ENST00000255226:exon4:c.A520T:p.R174W;ENSG00000132874:ENST00000586448:exon5:c.A520T:p.R174W;	0.999791008483313	0.996
18	43207112	G	A	18	45627147	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.G521A:p.R174K;SLC14A2:NM_007163:exon4:c.G521A:p.R174K;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.G521A:p.R174K;ENSG00000132874:ENST00000255226:exon4:c.G521A:p.R174K;ENSG00000132874:ENST00000586448:exon5:c.G521A:p.R174K;	0.999979060268637	0.998
18	43207112	G	C	18	45627147	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.G521C:p.R174T;SLC14A2:NM_007163:exon4:c.G521C:p.R174T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.G521C:p.R174T;ENSG00000132874:ENST00000255226:exon4:c.G521C:p.R174T;ENSG00000132874:ENST00000586448:exon5:c.G521C:p.R174T;	0.999996025866693	0.996
18	43207112	G	T	18	45627147	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon5:c.G521T:p.R174M;SLC14A2:NM_007163:exon4:c.G521T:p.R174M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon4:c.G521T:p.R174M;ENSG00000132874:ENST00000255226:exon4:c.G521T:p.R174M;ENSG00000132874:ENST00000586448:exon5:c.G521T:p.R174M;	0.999988935393896	1.0
18	43207113	G	A	18	45627148	y	y	splicing	SLC14A2(NM_001242692:exon5:c.521+1G>A;NM_007163:exon4:c.521+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.521+1G>A;ENST00000255226:exon4:c.521+1G>A;ENST00000323329:exon4:c.521+1G>A)	.	.	0.999989072007339	0.932
18	43207113	G	C	18	45627148	y	y	splicing	SLC14A2(NM_001242692:exon5:c.521+1G>C;NM_007163:exon4:c.521+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.521+1G>C;ENST00000255226:exon4:c.521+1G>C;ENST00000323329:exon4:c.521+1G>C)	.	.	0.999989072007339	0.932
18	43207113	G	T	18	45627148	y	y	splicing	SLC14A2(NM_001242692:exon5:c.521+1G>T;NM_007163:exon4:c.521+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.521+1G>T;ENST00000255226:exon4:c.521+1G>T;ENST00000323329:exon4:c.521+1G>T)	.	.	0.999989072007339	0.932
18	43207114	T	A	18	45627149	y	y	splicing	SLC14A2(NM_001242692:exon5:c.521+2T>A;NM_007163:exon4:c.521+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.521+2T>A;ENST00000255226:exon4:c.521+2T>A;ENST00000323329:exon4:c.521+2T>A)	.	.	0.999988247793601	0.93
18	43207114	T	C	18	45627149	y	y	splicing	SLC14A2(NM_001242692:exon5:c.521+2T>C;NM_007163:exon4:c.521+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.521+2T>C;ENST00000255226:exon4:c.521+2T>C;ENST00000323329:exon4:c.521+2T>C)	.	.	0.99991520749976	0.872
18	43207114	T	G	18	45627149	y	y	splicing	SLC14A2(NM_001242692:exon5:c.521+2T>G;NM_007163:exon4:c.521+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon5:c.521+2T>G;ENST00000255226:exon4:c.521+2T>G;ENST00000323329:exon4:c.521+2T>G)	.	.	0.999988247793601	0.93
18	43207115	G	A	18	45627150	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.44517337944825E-4	0.092
18	43207115	G	C	18	45627150	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0286836787990234	0.31
18	43207115	G	T	18	45627150	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00947907282485056	0.24
18	43207116	G	A	18	45627151	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.27643943158277E-4	0.082
18	43207116	G	C	18	45627151	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.29443549349296E-4	0.022
18	43207116	G	T	18	45627151	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.10731843431986E-4	0.032
18	43207117	G	A	18	45627152	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999775078127473	0.948
18	43207117	G	C	18	45627152	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.99993096266879	0.962
18	43207117	G	T	18	45627152	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999194164987473	0.802
18	43207118	T	A	18	45627153	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.408519451507184	0.374
18	43207118	T	C	18	45627153	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.129156877928221	0.302
18	43207118	T	G	18	45627153	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0930193453240856	0.296
18	43207119	C	A	18	45627154	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.35455825919001E-5	0.004
18	43207119	C	G	18	45627154	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.01134958209889E-4	0.004
18	43207119	C	T	18	45627154	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.22791065337281E-4	0.018
18	43207120	C	A	18	45627155	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.16718928214523E-4	0.004
18	43207120	C	G	18	45627155	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.56285005450614E-4	0.046
18	43207120	C	T	18	45627155	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.16718928214523E-4	0.01
18	43212303	T	A	18	45632338	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00326820234468679	0.14
18	43212303	T	C	18	45632338	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.72149499749548E-5	0.002
18	43212303	T	G	18	45632338	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0021077444617453	0.138
18	43212304	T	A	18	45632339	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.138800029489775	0.298
18	43212304	T	C	18	45632339	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.81393689345575E-4	0.004
18	43212304	T	G	18	45632339	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0676458306312705	0.318
18	43212305	T	A	18	45632340	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0317491731417359	0.25
18	43212305	T	C	18	45632340	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.36928173248318E-4	0.036
18	43212305	T	G	18	45632340	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0611197618724597	0.304
18	43212306	C	A	18	45632341	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00560208797870125	0.078
18	43212306	C	G	18	45632341	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00195592246906531	0.036
18	43212306	C	T	18	45632341	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.20034849614363E-5	0.0
18	43212307	A	C	18	45632342	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.65047354028333E-5	0.0
18	43212307	A	G	18	45632342	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.81104709051921E-5	0.0
18	43212307	A	T	18	45632342	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.6822908548668E-5	0.002
18	43212308	C	A	18	45632343	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.81457868193043E-4	0.104
18	43212308	C	G	18	45632343	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999065439297714	0.904
18	43212308	C	T	18	45632343	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.32838495223221E-5	0.002
18	43212309	C	A	18	45632344	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.99841955306243	0.908
18	43212309	C	G	18	45632344	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0167362706634519	0.278
18	43212309	C	T	18	45632344	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.6694784578277E-5	0.014
18	43212310	G	A	18	45632345	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.83694033275404E-5	0.006
18	43212310	G	C	18	45632345	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.34394263488539E-5	0.0
18	43212310	G	T	18	45632345	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.34394263488539E-5	0.016
18	43212311	C	A	18	45632346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.59065822023886E-5	0.01
18	43212311	C	G	18	45632346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.4048497741922E-5	0.004
18	43212311	C	T	18	45632346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.21437017071806E-4	0.01
18	43212312	C	A	18	45632347	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.989322019540206	0.794
18	43212312	C	G	18	45632347	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999789287737333	0.986
18	43212312	C	T	18	45632347	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00394363390768331	0.048
18	43212313	A	C	18	45632348	y	y	splicing	SLC14A2(NM_001242692:exon6:c.522-2A>C;NM_007163:exon5:c.522-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.522-2A>C;ENST00000255226:exon5:c.522-2A>C;ENST00000323329:exon5:c.522-2A>C)	.	.	0.999988247793601	0.918
18	43212313	A	G	18	45632348	y	y	splicing	SLC14A2(NM_001242692:exon6:c.522-2A>G;NM_007163:exon5:c.522-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.522-2A>G;ENST00000255226:exon5:c.522-2A>G;ENST00000323329:exon5:c.522-2A>G)	.	.	0.999988247793601	0.92
18	43212313	A	T	18	45632348	y	y	splicing	SLC14A2(NM_001242692:exon6:c.522-2A>T;NM_007163:exon5:c.522-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.522-2A>T;ENST00000255226:exon5:c.522-2A>T;ENST00000323329:exon5:c.522-2A>T)	.	.	0.999988247793601	0.926
18	43212314	G	A	18	45632349	y	y	splicing	SLC14A2(NM_001242692:exon6:c.522-1G>A;NM_007163:exon5:c.522-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.522-1G>A;ENST00000255226:exon5:c.522-1G>A;ENST00000323329:exon5:c.522-1G>A)	.	.	0.999986675681007	0.932
18	43212314	G	C	18	45632349	y	y	splicing	SLC14A2(NM_001242692:exon6:c.522-1G>C;NM_007163:exon5:c.522-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.522-1G>C;ENST00000255226:exon5:c.522-1G>C;ENST00000323329:exon5:c.522-1G>C)	.	.	0.999986675681007	0.932
18	43212314	G	T	18	45632349	y	y	splicing	SLC14A2(NM_001242692:exon6:c.522-1G>T;NM_007163:exon5:c.522-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.522-1G>T;ENST00000255226:exon5:c.522-1G>T;ENST00000323329:exon5:c.522-1G>T)	.	.	0.999986675681007	0.932
18	43212315	G	A	18	45632350	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon6:c.G522A:p.R174R;SLC14A2:NM_007163:exon5:c.G522A:p.R174R;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.G522A:p.R174R;ENSG00000132874:ENST00000255226:exon5:c.G522A:p.R174R;ENSG00000132874:ENST00000586448:exon6:c.G522A:p.R174R;	0.190361535406628	0.302
18	43212315	G	C	18	45632350	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.G522C:p.R174S;SLC14A2:NM_007163:exon5:c.G522C:p.R174S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.G522C:p.R174S;ENSG00000132874:ENST00000255226:exon5:c.G522C:p.R174S;ENSG00000132874:ENST00000586448:exon6:c.G522C:p.R174S;	0.992509321403758	0.93
18	43212315	G	T	18	45632350	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.G522T:p.R174S;SLC14A2:NM_007163:exon5:c.G522T:p.R174S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.G522T:p.R174S;ENSG00000132874:ENST00000255226:exon5:c.G522T:p.R174S;ENSG00000132874:ENST00000586448:exon6:c.G522T:p.R174S;	0.997039648017111	0.912
18	43212316	T	A	18	45632351	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.T523A:p.S175T;SLC14A2:NM_007163:exon5:c.T523A:p.S175T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.T523A:p.S175T;ENSG00000132874:ENST00000255226:exon5:c.T523A:p.S175T;ENSG00000132874:ENST00000586448:exon6:c.T523A:p.S175T;	0.0013882511908137	0.218
18	43212316	T	C	18	45632351	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.T523C:p.S175P;SLC14A2:NM_007163:exon5:c.T523C:p.S175P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.T523C:p.S175P;ENSG00000132874:ENST00000255226:exon5:c.T523C:p.S175P;ENSG00000132874:ENST00000586448:exon6:c.T523C:p.S175P;	1.1218733990714E-4	0.074
18	43212316	T	G	18	45632351	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.T523G:p.S175A;SLC14A2:NM_007163:exon5:c.T523G:p.S175A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.T523G:p.S175A;ENSG00000132874:ENST00000255226:exon5:c.T523G:p.S175A;ENSG00000132874:ENST00000586448:exon6:c.T523G:p.S175A;	8.2808663661238E-4	0.128
18	43212441	C	A	18	45632476	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon6:c.C648A:p.S216S;SLC14A2:NM_007163:exon5:c.C648A:p.S216S;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.C648A:p.S216S;ENSG00000132874:ENST00000255226:exon5:c.C648A:p.S216S;ENSG00000132874:ENST00000586448:exon6:c.C648A:p.S216S;	0.0152735506404323	0.15
18	43212441	C	G	18	45632476	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon6:c.C648G:p.S216S;SLC14A2:NM_007163:exon5:c.C648G:p.S216S;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.C648G:p.S216S;ENSG00000132874:ENST00000255226:exon5:c.C648G:p.S216S;ENSG00000132874:ENST00000586448:exon6:c.C648G:p.S216S;	0.208731616037913	0.364
18	43212441	C	T	18	45632476	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon6:c.C648T:p.S216S;SLC14A2:NM_007163:exon5:c.C648T:p.S216S;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.C648T:p.S216S;ENSG00000132874:ENST00000255226:exon5:c.C648T:p.S216S;ENSG00000132874:ENST00000586448:exon6:c.C648T:p.S216S;	0.939187624226614	0.62
18	43212442	T	A	18	45632477	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.T649A:p.C217S;SLC14A2:NM_007163:exon5:c.T649A:p.C217S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.T649A:p.W217R;ENSG00000132874:ENST00000255226:exon5:c.T649A:p.C217S;ENSG00000132874:ENST00000586448:exon6:c.T649A:p.C217S;	0.592508162108637	0.586
18	43212442	T	C	18	45632477	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.T649C:p.C217R;SLC14A2:NM_007163:exon5:c.T649C:p.C217R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.T649C:p.W217R;ENSG00000132874:ENST00000255226:exon5:c.T649C:p.C217R;ENSG00000132874:ENST00000586448:exon6:c.T649C:p.C217R;	0.944077015084791	0.854
18	43212442	T	G	18	45632477	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.T649G:p.C217G;SLC14A2:NM_007163:exon5:c.T649G:p.C217G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.T649G:p.W217G;ENSG00000132874:ENST00000255226:exon5:c.T649G:p.C217G;ENSG00000132874:ENST00000586448:exon6:c.T649G:p.C217G;	0.556479865537163	0.626
18	43212443	G	A	18	45632478	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.G650A:p.C217Y;SLC14A2:NM_007163:exon5:c.G650A:p.C217Y;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000323329:exon5:c.G650A:p.W217X;	0.999989486031904	0.994
18	43212443	G	C	18	45632478	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.G650C:p.C217S;SLC14A2:NM_007163:exon5:c.G650C:p.C217S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.G650C:p.W217S;ENSG00000132874:ENST00000255226:exon5:c.G650C:p.C217S;ENSG00000132874:ENST00000586448:exon6:c.G650C:p.C217S;	0.999989084407391	0.998
18	43212443	G	T	18	45632478	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon6:c.G650T:p.C217F;SLC14A2:NM_007163:exon5:c.G650T:p.C217F;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon5:c.G650T:p.W217L;ENSG00000132874:ENST00000255226:exon5:c.G650T:p.C217F;ENSG00000132874:ENST00000586448:exon6:c.G650T:p.C217F;	0.999948431095315	0.978
18	43212444	G	A	18	45632479	y	y	splicing	SLC14A2(NM_001242692:exon6:c.650+1G>A;NM_007163:exon5:c.650+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.650+1G>A;ENST00000255226:exon5:c.650+1G>A;ENST00000323329:exon5:c.650+1G>A)	.	.	0.999986675681007	0.934
18	43212444	G	C	18	45632479	y	y	splicing	SLC14A2(NM_001242692:exon6:c.650+1G>C;NM_007163:exon5:c.650+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.650+1G>C;ENST00000255226:exon5:c.650+1G>C;ENST00000323329:exon5:c.650+1G>C)	.	.	0.999986675681007	0.932
18	43212444	G	T	18	45632479	y	y	splicing	SLC14A2(NM_001242692:exon6:c.650+1G>T;NM_007163:exon5:c.650+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.650+1G>T;ENST00000255226:exon5:c.650+1G>T;ENST00000323329:exon5:c.650+1G>T)	.	.	0.999986675681007	0.934
18	43212445	T	A	18	45632480	y	y	splicing	SLC14A2(NM_001242692:exon6:c.650+2T>A;NM_007163:exon5:c.650+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.650+2T>A;ENST00000255226:exon5:c.650+2T>A;ENST00000323329:exon5:c.650+2T>A)	.	.	0.999989917668626	0.926
18	43212445	T	C	18	45632480	y	y	splicing	SLC14A2(NM_001242692:exon6:c.650+2T>C;NM_007163:exon5:c.650+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.650+2T>C;ENST00000255226:exon5:c.650+2T>C;ENST00000323329:exon5:c.650+2T>C)	.	.	0.999980522010335	0.942
18	43212445	T	G	18	45632480	y	y	splicing	SLC14A2(NM_001242692:exon6:c.650+2T>G;NM_007163:exon5:c.650+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon6:c.650+2T>G;ENST00000255226:exon5:c.650+2T>G;ENST00000323329:exon5:c.650+2T>G)	.	.	0.999989917668626	0.926
18	43212446	G	A	18	45632481	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.59546626765757E-5	0.004
18	43212446	G	C	18	45632481	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.773327264149343	0.532
18	43212446	G	T	18	45632481	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.636155837322229	0.454
18	43212447	A	C	18	45632482	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.620546051867731	0.62
18	43212447	A	G	18	45632482	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.966506676431493	0.538
18	43212447	A	T	18	45632482	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.994845892301478	0.836
18	43212448	G	A	18	45632483	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999836837034027	0.938
18	43212448	G	C	18	45632483	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999700128425319	0.904
18	43212448	G	T	18	45632483	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999970321593092	0.946
18	43212449	G	A	18	45632484	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.26303303307066E-4	0.0
18	43212449	G	C	18	45632484	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.56454574773987E-5	0.0
18	43212449	G	T	18	45632484	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.4025672634296E-5	0.01
18	43212450	C	A	18	45632485	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.04860152160254E-5	0.0
18	43212450	C	G	18	45632485	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.50559221572811E-5	0.0
18	43212450	C	T	18	45632485	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.21975181864643E-5	0.012
18	43212451	A	C	18	45632486	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.28882565731292E-5	0.0
18	43212451	A	G	18	45632486	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.67460470960878E-5	0.0
18	43212451	A	T	18	45632486	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.87421308611706E-5	0.0
18	43214775	C	A	18	45634810	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.55150122383302E-5	0.232
18	43214775	C	G	18	45634810	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.55150122383302E-5	0.238
18	43214775	C	T	18	45634810	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.55150122383302E-5	0.228
18	43214776	T	A	18	45634811	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.82827935381688E-5	0.002
18	43214776	T	C	18	45634811	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.82827935381688E-5	0.002
18	43214776	T	G	18	45634811	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.82827935381688E-5	0.002
18	43214777	C	A	18	45634812	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.13979659272119E-4	0.12
18	43214777	C	G	18	45634812	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.72768316056673E-4	0.124
18	43214777	C	T	18	45634812	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.13979659272119E-4	0.118
18	43214778	T	A	18	45634813	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.08739841361144E-4	0.004
18	43214778	T	C	18	45634813	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.08739841361144E-4	0.006
18	43214778	T	G	18	45634813	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.08739841361144E-4	0.006
18	43214779	G	A	18	45634814	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.07620641825897E-5	0.004
18	43214779	G	C	18	45634814	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.99153316237132E-5	0.002
18	43214779	G	T	18	45634814	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.99153316237132E-5	0.002
18	43214780	T	A	18	45634815	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.6762805781412E-5	0.006
18	43214780	T	C	18	45634815	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.33381957100963E-5	0.002
18	43214780	T	G	18	45634815	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.33381957100963E-5	0.002
18	43214781	T	A	18	45634816	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.27163650926202E-4	0.034
18	43214781	T	C	18	45634816	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.27163650926202E-4	0.016
18	43214781	T	G	18	45634816	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.27163650926202E-4	0.016
18	43214782	T	A	18	45634817	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.58009765358841E-5	0.004
18	43214782	T	C	18	45634817	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.46437804424949E-5	0.002
18	43214782	T	G	18	45634817	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.46437804424949E-5	0.002
18	43214783	G	A	18	45634818	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30852315876377E-5	0.008
18	43214783	G	C	18	45634818	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30852315876377E-5	0.008
18	43214783	G	T	18	45634818	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30852315876377E-5	0.008
18	43214784	C	A	18	45634819	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30852315876377E-5	0.016
18	43214784	C	G	18	45634819	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30852315876377E-5	0.016
18	43214784	C	T	18	45634819	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30852315876377E-5	0.016
18	43214785	A	C	18	45634820	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.651-2A>C)	.	.	2.11203329754734E-5	0.002
18	43214785	A	G	18	45634820	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.651-2A>G)	.	.	2.11203329754734E-5	0.002
18	43214785	A	T	18	45634820	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.651-2A>T)	.	.	9.14505838604605E-5	0.008
18	43214786	G	A	18	45634821	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.651-1G>A)	.	.	1.33984070840462E-5	0.0
18	43214786	G	C	18	45634821	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.651-1G>C)	.	.	8.67406312561927E-6	0.0
18	43214786	G	T	18	45634821	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.651-1G>T)	.	.	1.33984070840462E-5	0.016
18	43214787	G	A	18	45634822	n	y	intronic	SLC14A2	.	.	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000323329:exon6:c.G651A:p.W217X;	6.41254783179219E-5	0.0
18	43214787	G	C	18	45634822	n	y	intronic	SLC14A2	.	.	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon6:c.G651C:p.W217C;	1.00150283869613E-4	0.004
18	43214787	G	T	18	45634822	n	y	intronic	SLC14A2	.	.	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon6:c.G651T:p.W217C;	1.38902716199852E-4	0.0
18	43214788	A	C	18	45634823	n	y	intronic	SLC14A2	.	.	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon6:c.A652C:p.M218L;	7.14374346167069E-5	0.0
18	43214788	A	G	18	45634823	n	y	intronic	SLC14A2	.	.	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon6:c.A652G:p.M218V;	3.25666866588399E-5	0.0
18	43214788	A	T	18	45634823	n	y	intronic	SLC14A2	.	.	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000323329:exon6:c.A652T:p.M218L;	3.25666866588399E-5	0.0
18	43214912	A	C	18	45634947	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	4.57607375837078E-5	0.016
18	43214912	A	G	18	45634947	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	4.57607375837078E-5	0.01
18	43214912	A	T	18	45634947	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	3.42206730061288E-5	0.0
18	43214913	T	A	18	45634948	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	3.08739841361144E-4	0.004
18	43214913	T	C	18	45634948	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	1.69884688945688E-4	0.004
18	43214913	T	G	18	45634948	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	1.69884688945688E-4	0.004
18	43214914	G	A	18	45634949	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	5.65361214020652E-5	0.008
18	43214914	G	C	18	45634949	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	5.65361214020652E-5	0.008
18	43214914	G	T	18	45634949	n	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	5.65361214020652E-5	0.006
18	43214915	G	A	18	45634950	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.778+1G>A)	.	.	6.67535614375061E-5	0.0
18	43214915	G	C	18	45634950	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.778+1G>C)	.	.	3.67272766448078E-5	0.0
18	43214915	G	T	18	45634950	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.778+1G>T)	.	.	6.67535614375061E-5	0.0
18	43214916	T	A	18	45634951	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.778+2T>A)	.	.	8.49702646665041E-5	0.004
18	43214916	T	C	18	45634951	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.778+2T>C)	.	.	4.08802802279601E-5	0.004
18	43214916	T	G	18	45634951	n	y	intronic	SLC14A2	.	.	splicing	ENSG00000132874(ENST00000323329:exon6:c.778+2T>G)	.	.	4.08802802279601E-5	0.004
18	43214917	A	C	18	45634952	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.31929338280547E-5	0.002
18	43214917	A	G	18	45634952	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.31929338280547E-5	0.002
18	43214917	A	T	18	45634952	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.89925739660516E-5	0.004
18	43214918	A	C	18	45634953	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.75061533442063E-5	0.008
18	43214918	A	G	18	45634953	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.75061533442063E-5	0.008
18	43214918	A	T	18	45634953	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.80476933978685E-5	0.0
18	43214919	G	A	18	45634954	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.31929338280547E-5	0.004
18	43214919	G	C	18	45634954	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.07620641825897E-5	0.0
18	43214919	G	T	18	45634954	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.31929338280547E-5	0.0
18	43214920	A	C	18	45634955	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.58542435370787E-4	0.008
18	43214920	A	G	18	45634955	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.58542435370787E-4	0.008
18	43214920	A	T	18	45634955	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00140643673454529	0.006
18	43214921	A	C	18	45634956	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.63360899965148E-5	0.002
18	43214921	A	G	18	45634956	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.63360899965148E-5	0.002
18	43214921	A	T	18	45634956	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.78674951653264E-5	0.002
18	43214922	G	A	18	45634957	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.76705376348799E-4	0.01
18	43214922	G	C	18	45634957	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.76705376348799E-4	0.012
18	43214922	G	T	18	45634957	n	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.76705376348799E-4	0.012
18	43216943	T	A	18	45636978	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00512686121639599	0.252
18	43216943	T	C	18	45636978	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.80895849820794E-4	0.064
18	43216943	T	G	18	45636978	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00575381103155861	0.258
18	43216944	T	A	18	45636979	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999676860165072	0.94
18	43216944	T	C	18	45636979	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.88153832877863E-4	0.008
18	43216944	T	G	18	45636979	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0710646643253359	0.346
18	43216945	G	A	18	45636980	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.31681128662119E-5	0.008
18	43216945	G	C	18	45636980	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.63111167159855E-6	0.0
18	43216945	G	T	18	45636980	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.14042076723277E-6	0.0
18	43216946	C	A	18	45636981	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.92848006859722E-4	0.066
18	43216946	C	G	18	45636981	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00176050824387348	0.108
18	43216946	C	T	18	45636981	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.00125137694863E-4	0.002
18	43216947	A	C	18	45636982	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.45301829050205E-5	0.01
18	43216947	A	G	18	45636982	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.42162956330807E-5	0.0
18	43216947	A	T	18	45636982	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.21402430950251E-5	0.0
18	43216948	T	A	18	45636983	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.12828673511659	0.358
18	43216948	T	C	18	45636983	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.96912693465267E-5	0.006
18	43216948	T	G	18	45636983	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999949608346065	0.992
18	43216949	C	A	18	45636984	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0131565057627998	0.268
18	43216949	C	G	18	45636984	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0167543015098376	0.246
18	43216949	C	T	18	45636984	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.13158635484595E-4	0.026
18	43216950	T	A	18	45636985	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.300867351569449	0.29
18	43216950	T	C	18	45636985	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.96336461698418E-4	0.01
18	43216950	T	G	18	45636985	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.480000559804991	0.38
18	43216951	T	A	18	45636986	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.6035550241066E-4	0.006
18	43216951	T	C	18	45636986	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.4533467669083E-4	0.09
18	43216951	T	G	18	45636986	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0015666449470066	0.164
18	43216952	C	A	18	45636987	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.465327371161359	0.626
18	43216952	C	G	18	45636987	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999746778620929	0.902
18	43216952	C	T	18	45636987	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.85718802741302E-4	0.142
18	43216953	A	C	18	45636988	y	y	splicing	SLC14A2(NM_001242692:exon7:c.651-2A>C;NM_007163:exon6:c.651-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.651-2A>C;ENST00000255226:exon6:c.651-2A>C)	.	.	0.999957711392063	0.958
18	43216953	A	G	18	45636988	y	y	splicing	SLC14A2(NM_001242692:exon7:c.651-2A>G;NM_007163:exon6:c.651-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.651-2A>G;ENST00000255226:exon6:c.651-2A>G)	.	.	0.999957711392063	0.958
18	43216953	A	T	18	45636988	y	y	splicing	SLC14A2(NM_001242692:exon7:c.651-2A>T;NM_007163:exon6:c.651-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.651-2A>T;ENST00000255226:exon6:c.651-2A>T)	.	.	0.999957317860884	0.954
18	43216954	G	A	18	45636989	y	y	splicing	SLC14A2(NM_001242692:exon7:c.651-1G>A;NM_007163:exon6:c.651-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.651-1G>A;ENST00000255226:exon6:c.651-1G>A)	.	.	0.999947457575714	0.94
18	43216954	G	C	18	45636989	y	y	splicing	SLC14A2(NM_001242692:exon7:c.651-1G>C;NM_007163:exon6:c.651-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.651-1G>C;ENST00000255226:exon6:c.651-1G>C)	.	.	0.999947457575714	0.944
18	43216954	G	T	18	45636989	y	y	splicing	SLC14A2(NM_001242692:exon7:c.651-1G>T;NM_007163:exon6:c.651-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.651-1G>T;ENST00000255226:exon6:c.651-1G>T)	.	.	0.999947457575714	0.944
18	43216955	C	A	18	45636990	y	y	exonic	SLC14A2	stopgain SNV	SLC14A2:NM_001242692:exon7:c.C651A:p.C217X;SLC14A2:NM_007163:exon6:c.C651A:p.C217X;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000255226:exon6:c.C651A:p.C217X;ENSG00000132874:ENST00000586448:exon7:c.C651A:p.C217X;	7.69464520095725E-4	0.456
18	43216955	C	G	18	45636990	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.C651G:p.C217W;SLC14A2:NM_007163:exon6:c.C651G:p.C217W;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.C651G:p.C217W;ENSG00000132874:ENST00000586448:exon7:c.C651G:p.C217W;	2.68716246457115E-4	0.176
18	43216955	C	T	18	45636990	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon7:c.C651T:p.C217C;SLC14A2:NM_007163:exon6:c.C651T:p.C217C;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.C651T:p.C217C;ENSG00000132874:ENST00000586448:exon7:c.C651T:p.C217C;	6.98872296739297E-4	0.084
18	43216956	C	A	18	45636991	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.C652A:p.P218T;SLC14A2:NM_007163:exon6:c.C652A:p.P218T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.C652A:p.P218T;ENSG00000132874:ENST00000586448:exon7:c.C652A:p.P218T;	0.757172515428248	0.476
18	43216956	C	G	18	45636991	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.C652G:p.P218A;SLC14A2:NM_007163:exon6:c.C652G:p.P218A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.C652G:p.P218A;ENSG00000132874:ENST00000586448:exon7:c.C652G:p.P218A;	0.878121548127957	0.614
18	43216956	C	T	18	45636991	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.C652T:p.P218S;SLC14A2:NM_007163:exon6:c.C652T:p.P218S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.C652T:p.P218S;ENSG00000132874:ENST00000586448:exon7:c.C652T:p.P218S;	0.976105770807032	0.712
18	43217145	C	A	18	45637180	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.C841A:p.L281M;SLC14A2:NM_007163:exon6:c.C841A:p.L281M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.C841A:p.L281M;ENSG00000132874:ENST00000586448:exon7:c.C841A:p.L281M;	7.21195445376691E-5	0.042
18	43217145	C	G	18	45637180	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.C841G:p.L281V;SLC14A2:NM_007163:exon6:c.C841G:p.L281V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.C841G:p.L281V;ENSG00000132874:ENST00000586448:exon7:c.C841G:p.L281V;	1.40495189674212E-4	0.032
18	43217145	C	T	18	45637180	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon7:c.C841T:p.L281L;SLC14A2:NM_007163:exon6:c.C841T:p.L281L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.C841T:p.L281L;ENSG00000132874:ENST00000586448:exon7:c.C841T:p.L281L;	5.22159873760346E-4	0.108
18	43217146	T	A	18	45637181	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.T842A:p.L281Q;SLC14A2:NM_007163:exon6:c.T842A:p.L281Q;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.T842A:p.L281Q;ENSG00000132874:ENST00000586448:exon7:c.T842A:p.L281Q;	0.00306554261163909	0.068
18	43217146	T	C	18	45637181	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.T842C:p.L281P;SLC14A2:NM_007163:exon6:c.T842C:p.L281P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.T842C:p.L281P;ENSG00000132874:ENST00000586448:exon7:c.T842C:p.L281P;	0.62018511173241	0.642
18	43217146	T	G	18	45637181	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon7:c.T842G:p.L281R;SLC14A2:NM_007163:exon6:c.T842G:p.L281R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.T842G:p.L281R;ENSG00000132874:ENST00000586448:exon7:c.T842G:p.L281R;	0.0175466265894399	0.174
18	43217147	G	A	18	45637182	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon7:c.G843A:p.L281L;SLC14A2:NM_007163:exon6:c.G843A:p.L281L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.G843A:p.L281L;ENSG00000132874:ENST00000586448:exon7:c.G843A:p.L281L;	0.995448222346021	0.804
18	43217147	G	C	18	45637182	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon7:c.G843C:p.L281L;SLC14A2:NM_007163:exon6:c.G843C:p.L281L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.G843C:p.L281L;ENSG00000132874:ENST00000586448:exon7:c.G843C:p.L281L;	0.996112868985549	0.784
18	43217147	G	T	18	45637182	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon7:c.G843T:p.L281L;SLC14A2:NM_007163:exon6:c.G843T:p.L281L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon6:c.G843T:p.L281L;ENSG00000132874:ENST00000586448:exon7:c.G843T:p.L281L;	0.968313352843527	0.802
18	43217148	G	A	18	45637183	y	y	splicing	SLC14A2(NM_001242692:exon7:c.843+1G>A;NM_007163:exon6:c.843+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.843+1G>A;ENST00000255226:exon6:c.843+1G>A;ENST00000323329:exon7:c.873+1G>A)	.	.	0.999986675681007	0.934
18	43217148	G	C	18	45637183	y	y	splicing	SLC14A2(NM_001242692:exon7:c.843+1G>C;NM_007163:exon6:c.843+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.843+1G>C;ENST00000255226:exon6:c.843+1G>C;ENST00000323329:exon7:c.873+1G>C)	.	.	0.999986675681007	0.932
18	43217148	G	T	18	45637183	y	y	splicing	SLC14A2(NM_001242692:exon7:c.843+1G>T;NM_007163:exon6:c.843+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.843+1G>T;ENST00000255226:exon6:c.843+1G>T;ENST00000323329:exon7:c.873+1G>T)	.	.	0.999986675681007	0.932
18	43217149	T	A	18	45637184	y	y	splicing	SLC14A2(NM_001242692:exon7:c.843+2T>A;NM_007163:exon6:c.843+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.843+2T>A;ENST00000255226:exon6:c.843+2T>A;ENST00000323329:exon7:c.873+2T>A)	.	.	0.999988247793601	0.926
18	43217149	T	C	18	45637184	y	y	splicing	SLC14A2(NM_001242692:exon7:c.843+2T>C;NM_007163:exon6:c.843+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.843+2T>C;ENST00000255226:exon6:c.843+2T>C;ENST00000323329:exon7:c.873+2T>C)	.	.	0.986973409415639	0.622
18	43217149	T	G	18	45637184	y	y	splicing	SLC14A2(NM_001242692:exon7:c.843+2T>G;NM_007163:exon6:c.843+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon7:c.843+2T>G;ENST00000255226:exon6:c.843+2T>G;ENST00000323329:exon7:c.873+2T>G)	.	.	0.999988247793601	0.926
18	43217150	A	C	18	45637185	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.935018583711673	0.716
18	43217150	A	G	18	45637185	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00531688730233174	0.146
18	43217150	A	T	18	45637185	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.986324556180476	0.658
18	43217151	A	C	18	45637186	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.505547132155937	0.34
18	43217151	A	G	18	45637186	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.39347893030765	0.484
18	43217151	A	T	18	45637186	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.769215675944995	0.556
18	43217152	G	A	18	45637187	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999684884570764	0.924
18	43217152	G	C	18	45637187	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.99932358125753	0.854
18	43217152	G	T	18	45637187	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999651490792476	0.91
18	43217153	T	A	18	45637188	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.051520430898E-4	0.014
18	43217153	T	C	18	45637188	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00132633208116572	0.03
18	43217153	T	G	18	45637188	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.20605677648946E-4	0.01
18	43217154	T	A	18	45637189	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.73760298884343E-4	0.002
18	43217154	T	C	18	45637189	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.21606870173067E-4	0.002
18	43217154	T	G	18	45637189	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.28787216154889E-4	0.002
18	43217155	A	C	18	45637190	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.24236979434921E-5	0.0
18	43217155	A	G	18	45637190	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.10767967830265E-4	0.0
18	43217155	A	T	18	45637190	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.24236979434921E-5	0.0
18	43219699	T	A	18	45639734	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.992146667161762	0.85
18	43219699	T	C	18	45639734	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.119701208047099	0.35
18	43219699	T	G	18	45639734	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.991266079168896	0.87
18	43219700	T	A	18	45639735	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999488105439971	0.95
18	43219700	T	C	18	45639735	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.98680312306379	0.682
18	43219700	T	G	18	45639735	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999433430798148	0.918
18	43219701	A	C	18	45639736	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.38606860349938E-4	0.028
18	43219701	A	G	18	45639736	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00223565171021047	0.03
18	43219701	A	T	18	45639736	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.60014078726503E-4	0.028
18	43219702	A	C	18	45639737	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00122069479383517	0.052
18	43219702	A	G	18	45639737	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998895895863491	0.952
18	43219702	A	T	18	45639737	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00220581755549962	0.076
18	43219703	C	A	18	45639738	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0111789587855706	0.128
18	43219703	C	G	18	45639738	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999793974507271	0.972
18	43219703	C	T	18	45639738	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.23049893122813E-4	0.006
18	43219704	T	A	18	45639739	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.896568488157723	0.738
18	43219704	T	C	18	45639739	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00825877857473699	0.168
18	43219704	T	G	18	45639739	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.890159644184403	0.698
18	43219705	T	A	18	45639740	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.771012370392393	0.762
18	43219705	T	C	18	45639740	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.33346242049236E-4	0.042
18	43219705	T	G	18	45639740	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.406866865410568	0.68
18	43219706	T	A	18	45639741	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999727824693076	0.964
18	43219706	T	C	18	45639741	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.938812002601037	0.542
18	43219706	T	G	18	45639741	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999129221613306	0.934
18	43219707	G	A	18	45639742	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.6695127288981E-4	0.006
18	43219707	G	C	18	45639742	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.54991409038524E-4	0.028
18	43219707	G	T	18	45639742	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00110877497276494	0.038
18	43219708	C	A	18	45639743	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.986798318651885	0.888
18	43219708	C	G	18	45639743	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999934039385824	0.972
18	43219708	C	T	18	45639743	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0540623386917348	0.114
18	43219709	A	C	18	45639744	y	y	splicing	SLC14A2(NM_001242692:exon8:c.844-2A>C;NM_007163:exon7:c.844-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.844-2A>C;ENST00000255226:exon7:c.844-2A>C;ENST00000323329:exon8:c.874-2A>C)	.	.	0.999988247793601	0.936
18	43219709	A	G	18	45639744	y	y	splicing	SLC14A2(NM_001242692:exon8:c.844-2A>G;NM_007163:exon7:c.844-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.844-2A>G;ENST00000255226:exon7:c.844-2A>G;ENST00000323329:exon8:c.874-2A>G)	.	.	0.999988247793601	0.936
18	43219709	A	T	18	45639744	y	y	splicing	SLC14A2(NM_001242692:exon8:c.844-2A>T;NM_007163:exon7:c.844-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.844-2A>T;ENST00000255226:exon7:c.844-2A>T;ENST00000323329:exon8:c.874-2A>T)	.	.	0.999988247793601	0.936
18	43219710	G	A	18	45639745	y	y	splicing	SLC14A2(NM_001242692:exon8:c.844-1G>A;NM_007163:exon7:c.844-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.844-1G>A;ENST00000255226:exon7:c.844-1G>A;ENST00000323329:exon8:c.874-1G>A)	.	.	0.999990361384395	0.944
18	43219710	G	C	18	45639745	y	y	splicing	SLC14A2(NM_001242692:exon8:c.844-1G>C;NM_007163:exon7:c.844-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.844-1G>C;ENST00000255226:exon7:c.844-1G>C;ENST00000323329:exon8:c.874-1G>C)	.	.	0.999990361384395	0.944
18	43219710	G	T	18	45639745	y	y	splicing	SLC14A2(NM_001242692:exon8:c.844-1G>T;NM_007163:exon7:c.844-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.844-1G>T;ENST00000255226:exon7:c.844-1G>T;ENST00000323329:exon8:c.874-1G>T)	.	.	0.999990361384395	0.944
18	43219711	C	A	18	45639746	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.C844A:p.L282M;SLC14A2:NM_007163:exon7:c.C844A:p.L282M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.C844A:p.L282M;ENSG00000132874:ENST00000586448:exon8:c.C844A:p.L282M;	0.525386152671635	0.6
18	43219711	C	G	18	45639746	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.C844G:p.L282V;SLC14A2:NM_007163:exon7:c.C844G:p.L282V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.C844G:p.L282V;ENSG00000132874:ENST00000586448:exon8:c.C844G:p.L282V;	0.459621723521555	0.468
18	43219711	C	T	18	45639746	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon8:c.C844T:p.L282L;SLC14A2:NM_007163:exon7:c.C844T:p.L282L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.C844T:p.L282L;ENSG00000132874:ENST00000586448:exon8:c.C844T:p.L282L;	0.276120510290592	0.532
18	43219712	T	A	18	45639747	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.T845A:p.L282Q;SLC14A2:NM_007163:exon7:c.T845A:p.L282Q;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.T845A:p.L282Q;ENSG00000132874:ENST00000586448:exon8:c.T845A:p.L282Q;	0.956798153090222	0.54
18	43219712	T	C	18	45639747	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.T845C:p.L282P;SLC14A2:NM_007163:exon7:c.T845C:p.L282P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.T845C:p.L282P;ENSG00000132874:ENST00000586448:exon8:c.T845C:p.L282P;	0.950312612443909	0.502
18	43219712	T	G	18	45639747	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.T845G:p.L282R;SLC14A2:NM_007163:exon7:c.T845G:p.L282R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.T845G:p.L282R;ENSG00000132874:ENST00000586448:exon8:c.T845G:p.L282R;	0.939225444153576	0.5
18	43219856	C	A	18	45639891	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.C989A:p.A330E;SLC14A2:NM_007163:exon7:c.C989A:p.A330E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.C989A:p.A330E;ENSG00000132874:ENST00000586448:exon8:c.C989A:p.A330E;	0.951133121860245	0.788
18	43219856	C	G	18	45639891	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.C989G:p.A330G;SLC14A2:NM_007163:exon7:c.C989G:p.A330G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.C989G:p.A330G;ENSG00000132874:ENST00000586448:exon8:c.C989G:p.A330G;	0.950081131152631	0.668
18	43219856	C	T	18	45639891	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.C989T:p.A330V;SLC14A2:NM_007163:exon7:c.C989T:p.A330V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.C989T:p.A330V;ENSG00000132874:ENST00000586448:exon8:c.C989T:p.A330V;	0.999281918040459	0.952
18	43219857	A	C	18	45639892	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon8:c.A990C:p.A330A;SLC14A2:NM_007163:exon7:c.A990C:p.A330A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.A990C:p.A330A;ENSG00000132874:ENST00000586448:exon8:c.A990C:p.A330A;	0.999574592763832	0.99
18	43219857	A	G	18	45639892	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon8:c.A990G:p.A330A;SLC14A2:NM_007163:exon7:c.A990G:p.A330A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.A990G:p.A330A;ENSG00000132874:ENST00000586448:exon8:c.A990G:p.A330A;	0.999650209397573	0.996
18	43219857	A	T	18	45639892	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon8:c.A990T:p.A330A;SLC14A2:NM_007163:exon7:c.A990T:p.A330A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.A990T:p.A330A;ENSG00000132874:ENST00000586448:exon8:c.A990T:p.A330A;	0.999720285079628	0.986
18	43219858	G	A	18	45639893	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.G991A:p.A331T;SLC14A2:NM_007163:exon7:c.G991A:p.A331T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.G991A:p.A331T;ENSG00000132874:ENST00000586448:exon8:c.G991A:p.A331T;	0.999982162778314	1.0
18	43219858	G	C	18	45639893	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.G991C:p.A331P;SLC14A2:NM_007163:exon7:c.G991C:p.A331P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.G991C:p.A331P;ENSG00000132874:ENST00000586448:exon8:c.G991C:p.A331P;	0.999994945715026	0.992
18	43219858	G	T	18	45639893	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon8:c.G991T:p.A331S;SLC14A2:NM_007163:exon7:c.G991T:p.A331S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon7:c.G991T:p.A331S;ENSG00000132874:ENST00000586448:exon8:c.G991T:p.A331S;	0.999987300503718	0.988
18	43219859	G	A	18	45639894	y	y	splicing	SLC14A2(NM_001242692:exon8:c.991+1G>A;NM_007163:exon7:c.991+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.991+1G>A;ENST00000255226:exon7:c.991+1G>A;ENST00000323329:exon8:c.1021+1G>A)	.	.	0.999990361384395	0.938
18	43219859	G	C	18	45639894	y	y	splicing	SLC14A2(NM_001242692:exon8:c.991+1G>C;NM_007163:exon7:c.991+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.991+1G>C;ENST00000255226:exon7:c.991+1G>C;ENST00000323329:exon8:c.1021+1G>C)	.	.	0.999990361384395	0.938
18	43219859	G	T	18	45639894	y	y	splicing	SLC14A2(NM_001242692:exon8:c.991+1G>T;NM_007163:exon7:c.991+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.991+1G>T;ENST00000255226:exon7:c.991+1G>T;ENST00000323329:exon8:c.1021+1G>T)	.	.	0.999990361384395	0.938
18	43219860	T	A	18	45639895	y	y	splicing	SLC14A2(NM_001242692:exon8:c.991+2T>A;NM_007163:exon7:c.991+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.991+2T>A;ENST00000255226:exon7:c.991+2T>A;ENST00000323329:exon8:c.1021+2T>A)	.	.	0.999988247793601	0.93
18	43219860	T	C	18	45639895	y	y	splicing	SLC14A2(NM_001242692:exon8:c.991+2T>C;NM_007163:exon7:c.991+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.991+2T>C;ENST00000255226:exon7:c.991+2T>C;ENST00000323329:exon8:c.1021+2T>C)	.	.	0.996388929962285	0.684
18	43219860	T	G	18	45639895	y	y	splicing	SLC14A2(NM_001242692:exon8:c.991+2T>G;NM_007163:exon7:c.991+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon8:c.991+2T>G;ENST00000255226:exon7:c.991+2T>G;ENST00000323329:exon8:c.1021+2T>G)	.	.	0.999988247793601	0.93
18	43219861	A	C	18	45639896	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.994661876002383	0.874
18	43219861	A	G	18	45639896	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.856195989890896	0.796
18	43219861	A	T	18	45639896	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998253146556405	0.904
18	43219862	G	A	18	45639897	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.67642359997695E-4	0.058
18	43219862	G	C	18	45639897	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.07935952114124E-4	0.132
18	43219862	G	T	18	45639897	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.64265220397006E-4	0.048
18	43219863	G	A	18	45639898	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.986363807746018	0.698
18	43219863	G	C	18	45639898	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999666492432749	0.85
18	43219863	G	T	18	45639898	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999898025053106	0.918
18	43219864	A	C	18	45639899	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.46312417065494E-4	0.092
18	43219864	A	G	18	45639899	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.55666973009978E-5	0.034
18	43219864	A	T	18	45639899	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.0268442602277E-5	0.052
18	43219865	C	A	18	45639900	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.04152407057394E-4	0.02
18	43219865	C	G	18	45639900	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.157564743965E-4	0.0
18	43219865	C	T	18	45639900	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.59028848257884E-5	0.0
18	43219866	A	C	18	45639901	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30675687931358E-5	0.0
18	43219866	A	G	18	45639901	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.87680416612575E-5	0.0
18	43219866	A	T	18	45639901	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30675687931358E-5	0.0
18	43221162	C	A	18	45641197	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.96003944101483E-4	0.056
18	43221162	C	G	18	45641197	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.8355105127632E-4	0.07
18	43221162	C	T	18	45641197	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.70234927848556E-5	0.004
18	43221163	T	A	18	45641198	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.974862340915269	0.664
18	43221163	T	C	18	45641198	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0201060467236662	0.284
18	43221163	T	G	18	45641198	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.190801683851711	0.526
18	43221164	T	A	18	45641199	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999885014900518	0.968
18	43221164	T	C	18	45641199	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00302825537934493	0.168
18	43221164	T	G	18	45641199	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0691932896232906	0.452
18	43221165	G	A	18	45641200	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.11892795800524E-4	0.114
18	43221165	G	C	18	45641200	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.05195230219212E-5	0.01
18	43221165	G	T	18	45641200	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.58800609919459E-5	0.008
18	43221166	T	A	18	45641201	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.864538422189465	0.556
18	43221166	T	C	18	45641201	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.35882969389172E-4	0.026
18	43221166	T	G	18	45641201	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.190281102758183	0.51
18	43221167	C	A	18	45641202	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0125933537309771	0.186
18	43221167	C	G	18	45641202	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0027942732859358	0.122
18	43221167	C	T	18	45641202	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.41582866657689E-5	0.002
18	43221168	C	A	18	45641203	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0423255606358468	0.25
18	43221168	C	G	18	45641203	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.036473903245975	0.254
18	43221168	C	T	18	45641203	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.31456843966732E-5	0.006
18	43221169	C	A	18	45641204	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.32442232506024E-4	0.09
18	43221169	C	G	18	45641204	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00490572874864918	0.12
18	43221169	C	T	18	45641204	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.2549895294913E-5	0.028
18	43221170	A	C	18	45641205	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.35910616357759E-5	0.05
18	43221170	A	G	18	45641205	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.99811908496254E-5	0.04
18	43221170	A	T	18	45641205	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.22874701868941E-4	0.044
18	43221171	T	A	18	45641206	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.01910626149394	0.356
18	43221171	T	C	18	45641206	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.40457205239441E-4	0.028
18	43221171	T	G	18	45641206	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.875346477656315	0.666
18	43221172	A	C	18	45641207	y	y	splicing	SLC14A2(NM_001242692:exon9:c.992-2A>C;NM_007163:exon8:c.992-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.992-2A>C;ENST00000255226:exon8:c.992-2A>C;ENST00000323329:exon9:c.1022-2A>C)	.	.	0.999972413313263	0.956
18	43221172	A	G	18	45641207	y	y	splicing	SLC14A2(NM_001242692:exon9:c.992-2A>G;NM_007163:exon8:c.992-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.992-2A>G;ENST00000255226:exon8:c.992-2A>G;ENST00000323329:exon9:c.1022-2A>G)	.	.	0.999972413313263	0.956
18	43221172	A	T	18	45641207	y	y	splicing	SLC14A2(NM_001242692:exon9:c.992-2A>T;NM_007163:exon8:c.992-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.992-2A>T;ENST00000255226:exon8:c.992-2A>T;ENST00000323329:exon9:c.1022-2A>T)	.	.	0.999957711392063	0.944
18	43221173	G	A	18	45641208	y	y	splicing	SLC14A2(NM_001242692:exon9:c.992-1G>A;NM_007163:exon8:c.992-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.992-1G>A;ENST00000255226:exon8:c.992-1G>A;ENST00000323329:exon9:c.1022-1G>A)	.	.	0.999964993890792	0.948
18	43221173	G	C	18	45641208	y	y	splicing	SLC14A2(NM_001242692:exon9:c.992-1G>C;NM_007163:exon8:c.992-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.992-1G>C;ENST00000255226:exon8:c.992-1G>C;ENST00000323329:exon9:c.1022-1G>C)	.	.	0.999965316651096	0.95
18	43221173	G	T	18	45641208	y	y	splicing	SLC14A2(NM_001242692:exon9:c.992-1G>T;NM_007163:exon8:c.992-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.992-1G>T;ENST00000255226:exon8:c.992-1G>T;ENST00000323329:exon9:c.1022-1G>T)	.	.	0.999965316651096	0.952
18	43221174	C	A	18	45641209	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.C992A:p.A331D;SLC14A2:NM_007163:exon8:c.C992A:p.A331D;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.C992A:p.A331D;ENSG00000132874:ENST00000586448:exon9:c.C992A:p.A331D;	0.956730122207254	0.684
18	43221174	C	G	18	45641209	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.C992G:p.A331G;SLC14A2:NM_007163:exon8:c.C992G:p.A331G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.C992G:p.A331G;ENSG00000132874:ENST00000586448:exon9:c.C992G:p.A331G;	0.00213189574758286	0.126
18	43221174	C	T	18	45641209	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.C992T:p.A331V;SLC14A2:NM_007163:exon8:c.C992T:p.A331V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.C992T:p.A331V;ENSG00000132874:ENST00000586448:exon9:c.C992T:p.A331V;	0.99619253879323	0.824
18	43221175	C	A	18	45641210	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon9:c.C993A:p.A331A;SLC14A2:NM_007163:exon8:c.C993A:p.A331A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.C993A:p.A331A;ENSG00000132874:ENST00000586448:exon9:c.C993A:p.A331A;	2.05787890708081E-5	0.0
18	43221175	C	G	18	45641210	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon9:c.C993G:p.A331A;SLC14A2:NM_007163:exon8:c.C993G:p.A331A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.C993G:p.A331A;ENSG00000132874:ENST00000586448:exon9:c.C993G:p.A331A;	1.11848901048002E-5	0.0
18	43221175	C	T	18	45641210	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon9:c.C993T:p.A331A;SLC14A2:NM_007163:exon8:c.C993T:p.A331A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.C993T:p.A331A;ENSG00000132874:ENST00000586448:exon9:c.C993T:p.A331A;	1.13812569705397E-5	0.002
18	43221306	G	A	18	45641341	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.G1124A:p.C375Y;SLC14A2:NM_007163:exon8:c.G1124A:p.C375Y;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.G1124A:p.C375Y;ENSG00000132874:ENST00000586448:exon9:c.G1124A:p.C375Y;	0.923936865835733	0.746
18	43221306	G	C	18	45641341	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.G1124C:p.C375S;SLC14A2:NM_007163:exon8:c.G1124C:p.C375S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.G1124C:p.C375S;ENSG00000132874:ENST00000586448:exon9:c.G1124C:p.C375S;	0.914120050410648	0.784
18	43221306	G	T	18	45641341	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.G1124T:p.C375F;SLC14A2:NM_007163:exon8:c.G1124T:p.C375F;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.G1124T:p.C375F;ENSG00000132874:ENST00000586448:exon9:c.G1124T:p.C375F;	0.987654644279209	0.85
18	43221307	T	A	18	45641342	y	y	exonic	SLC14A2	stopgain SNV	SLC14A2:NM_001242692:exon9:c.T1125A:p.C375X;SLC14A2:NM_007163:exon8:c.T1125A:p.C375X;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000255226:exon8:c.T1125A:p.C375X;ENSG00000132874:ENST00000586448:exon9:c.T1125A:p.C375X;	1.19586120851202E-4	0.414
18	43221307	T	C	18	45641342	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon9:c.T1125C:p.C375C;SLC14A2:NM_007163:exon8:c.T1125C:p.C375C;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.T1125C:p.C375C;ENSG00000132874:ENST00000586448:exon9:c.T1125C:p.C375C;	2.95233483242875E-5	0.0
18	43221307	T	G	18	45641342	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.T1125G:p.C375W;SLC14A2:NM_007163:exon8:c.T1125G:p.C375W;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.T1125G:p.C375W;ENSG00000132874:ENST00000586448:exon9:c.T1125G:p.C375W;	2.26429723220356E-4	0.15
18	43221308	G	A	18	45641343	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.G1126A:p.A376T;SLC14A2:NM_007163:exon8:c.G1126A:p.A376T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.G1126A:p.A376T;ENSG00000132874:ENST00000586448:exon9:c.G1126A:p.A376T;	0.999989659569454	0.998
18	43221308	G	C	18	45641343	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.G1126C:p.A376P;SLC14A2:NM_007163:exon8:c.G1126C:p.A376P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.G1126C:p.A376P;ENSG00000132874:ENST00000586448:exon9:c.G1126C:p.A376P;	0.999986434807539	1.0
18	43221308	G	T	18	45641343	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon9:c.G1126T:p.A376S;SLC14A2:NM_007163:exon8:c.G1126T:p.A376S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon8:c.G1126T:p.A376S;ENSG00000132874:ENST00000586448:exon9:c.G1126T:p.A376S;	0.999983026775107	0.998
18	43221309	G	A	18	45641344	y	y	splicing	SLC14A2(NM_001242692:exon9:c.1126+1G>A;NM_007163:exon8:c.1126+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.1126+1G>A;ENST00000255226:exon8:c.1126+1G>A;ENST00000323329:exon9:c.1156+1G>A)	.	.	0.999986675681007	0.946
18	43221309	G	C	18	45641344	y	y	splicing	SLC14A2(NM_001242692:exon9:c.1126+1G>C;NM_007163:exon8:c.1126+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.1126+1G>C;ENST00000255226:exon8:c.1126+1G>C;ENST00000323329:exon9:c.1156+1G>C)	.	.	0.999986675681007	0.948
18	43221309	G	T	18	45641344	y	y	splicing	SLC14A2(NM_001242692:exon9:c.1126+1G>T;NM_007163:exon8:c.1126+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.1126+1G>T;ENST00000255226:exon8:c.1126+1G>T;ENST00000323329:exon9:c.1156+1G>T)	.	.	0.999986675681007	0.948
18	43221310	T	A	18	45641345	y	y	splicing	SLC14A2(NM_001242692:exon9:c.1126+2T>A;NM_007163:exon8:c.1126+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.1126+2T>A;ENST00000255226:exon8:c.1126+2T>A;ENST00000323329:exon9:c.1156+2T>A)	.	.	0.999988247793601	0.938
18	43221310	T	C	18	45641345	y	y	splicing	SLC14A2(NM_001242692:exon9:c.1126+2T>C;NM_007163:exon8:c.1126+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.1126+2T>C;ENST00000255226:exon8:c.1126+2T>C;ENST00000323329:exon9:c.1156+2T>C)	.	.	0.986973409415639	0.646
18	43221310	T	G	18	45641345	y	y	splicing	SLC14A2(NM_001242692:exon9:c.1126+2T>G;NM_007163:exon8:c.1126+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon9:c.1126+2T>G;ENST00000255226:exon8:c.1126+2T>G;ENST00000323329:exon9:c.1156+2T>G)	.	.	0.999988247793601	0.938
18	43221311	A	C	18	45641346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.99972090196935	0.842
18	43221311	A	G	18	45641346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.503558014734718	0.486
18	43221311	A	T	18	45641346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998428823531291	0.816
18	43221312	G	A	18	45641347	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.36958827578012E-4	0.05
18	43221312	G	C	18	45641347	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.63200410815423E-5	0.02
18	43221312	G	T	18	45641347	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.63200410815423E-5	0.006
18	43221313	G	A	18	45641348	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999986588298749	0.94
18	43221313	G	C	18	45641348	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999986006945833	0.986
18	43221313	G	T	18	45641348	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999987326488674	0.984
18	43221314	T	A	18	45641349	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.86121221028395	0.516
18	43221314	T	C	18	45641349	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.330793238279312	0.542
18	43221314	T	G	18	45641349	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.923745140498462	0.722
18	43221315	G	A	18	45641350	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.86686443874187E-5	0.0
18	43221315	G	C	18	45641350	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.86686443874187E-5	0.0
18	43221315	G	T	18	45641350	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.48031839519801E-4	0.026
18	43221316	T	A	18	45641351	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00473386699041022	0.156
18	43221316	T	C	18	45641351	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00318586458408062	0.004
18	43221316	T	G	18	45641351	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00495568436298708	0.206
18	43223085	G	A	18	45643120	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.90151590138617E-4	0.016
18	43223085	G	C	18	45643120	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.65859022697705E-4	0.004
18	43223085	G	T	18	45643120	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.10362275664655E-5	0.012
18	43223086	T	A	18	45643121	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0429354954866354	0.338
18	43223086	T	C	18	45643121	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00183369283150431	0.066
18	43223086	T	G	18	45643121	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0264683558215661	0.202
18	43223087	T	A	18	45643122	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00445756775212208	0.096
18	43223087	T	C	18	45643122	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.27568325879198E-4	0.012
18	43223087	T	G	18	45643122	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00181678281971892	0.164
18	43223088	C	A	18	45643123	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00140081393298322	0.19
18	43223088	C	G	18	45643123	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00113498232374779	0.14
18	43223088	C	T	18	45643123	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.04445500506638E-5	0.002
18	43223089	C	A	18	45643124	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00142733520158066	0.034
18	43223089	C	G	18	45643124	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.75201878358414E-4	0.02
18	43223089	C	T	18	45643124	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.68738129571423E-5	0.004
18	43223090	T	A	18	45643125	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00243435952912828	0.13
18	43223090	T	C	18	45643125	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.29625566941323E-5	0.004
18	43223090	T	G	18	45643125	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00304770110140706	0.108
18	43223091	C	A	18	45643126	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0166344151766703	0.17
18	43223091	C	G	18	45643126	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0198123324448809	0.17
18	43223091	C	T	18	45643126	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.30457361290032E-4	0.016
18	43223092	C	A	18	45643127	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0501915147459336	0.118
18	43223092	C	G	18	45643127	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0447455694929845	0.142
18	43223092	C	T	18	45643127	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0014439570744123	0.06
18	43223093	A	C	18	45643128	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.42887941101121E-4	0.01
18	43223093	A	G	18	45643128	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.36719068549735E-5	0.014
18	43223093	A	T	18	45643128	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.21390903626006E-4	0.04
18	43223094	C	A	18	45643129	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.954719277937152	0.634
18	43223094	C	G	18	45643129	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999949830761387	0.964
18	43223094	C	T	18	45643129	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00429300173149284	0.042
18	43223095	A	C	18	45643130	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1127-2A>C;NM_007163:exon9:c.1127-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1127-2A>C;ENST00000255226:exon9:c.1127-2A>C;ENST00000323329:exon10:c.1157-2A>C)	.	.	0.999988247793601	0.93
18	43223095	A	G	18	45643130	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1127-2A>G;NM_007163:exon9:c.1127-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1127-2A>G;ENST00000255226:exon9:c.1127-2A>G;ENST00000323329:exon10:c.1157-2A>G)	.	.	0.999988247793601	0.93
18	43223095	A	T	18	45643130	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1127-2A>T;NM_007163:exon9:c.1127-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1127-2A>T;ENST00000255226:exon9:c.1127-2A>T;ENST00000323329:exon10:c.1157-2A>T)	.	.	0.999988247793601	0.93
18	43223096	G	A	18	45643131	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1127-1G>A;NM_007163:exon9:c.1127-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1127-1G>A;ENST00000255226:exon9:c.1127-1G>A;ENST00000323329:exon10:c.1157-1G>A)	.	.	0.999990361384395	0.938
18	43223096	G	C	18	45643131	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1127-1G>C;NM_007163:exon9:c.1127-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1127-1G>C;ENST00000255226:exon9:c.1127-1G>C;ENST00000323329:exon10:c.1157-1G>C)	.	.	0.999990361384395	0.938
18	43223096	G	T	18	45643131	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1127-1G>T;NM_007163:exon9:c.1127-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1127-1G>T;ENST00000255226:exon9:c.1127-1G>T;ENST00000323329:exon10:c.1157-1G>T)	.	.	0.999990361384395	0.938
18	43223097	C	A	18	45643132	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.C1127A:p.A376D;SLC14A2:NM_007163:exon9:c.C1127A:p.A376D;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.C1127A:p.A376D;ENSG00000132874:ENST00000586448:exon10:c.C1127A:p.A376D;	0.974822898892562	0.834
18	43223097	C	G	18	45643132	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.C1127G:p.A376G;SLC14A2:NM_007163:exon9:c.C1127G:p.A376G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.C1127G:p.A376G;ENSG00000132874:ENST00000586448:exon10:c.C1127G:p.A376G;	0.962601000731202	0.722
18	43223097	C	T	18	45643132	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.C1127T:p.A376V;SLC14A2:NM_007163:exon9:c.C1127T:p.A376V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.C1127T:p.A376V;ENSG00000132874:ENST00000586448:exon10:c.C1127T:p.A376V;	0.993694036580429	0.952
18	43223098	C	A	18	45643133	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon10:c.C1128A:p.A376A;SLC14A2:NM_007163:exon9:c.C1128A:p.A376A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.C1128A:p.A376A;ENSG00000132874:ENST00000586448:exon10:c.C1128A:p.A376A;	2.91883400719619E-4	0.04
18	43223098	C	G	18	45643133	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon10:c.C1128G:p.A376A;SLC14A2:NM_007163:exon9:c.C1128G:p.A376A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.C1128G:p.A376A;ENSG00000132874:ENST00000586448:exon10:c.C1128G:p.A376A;	7.69888563450841E-5	0.018
18	43223098	C	T	18	45643133	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon10:c.C1128T:p.A376A;SLC14A2:NM_007163:exon9:c.C1128T:p.A376A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.C1128T:p.A376A;ENSG00000132874:ENST00000586448:exon10:c.C1128T:p.A376A;	1.91643864790926E-4	0.006
18	43223144	G	A	18	45643179	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.G1174A:p.V392M;SLC14A2:NM_007163:exon9:c.G1174A:p.V392M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.G1174A:p.V392M;ENSG00000132874:ENST00000586448:exon10:c.G1174A:p.V392M;	0.628145401425512	0.588
18	43223144	G	C	18	45643179	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.G1174C:p.V392L;SLC14A2:NM_007163:exon9:c.G1174C:p.V392L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.G1174C:p.V392L;ENSG00000132874:ENST00000586448:exon10:c.G1174C:p.V392L;	0.933113879257994	0.666
18	43223144	G	T	18	45643179	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.G1174T:p.V392L;SLC14A2:NM_007163:exon9:c.G1174T:p.V392L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.G1174T:p.V392L;ENSG00000132874:ENST00000586448:exon10:c.G1174T:p.V392L;	0.973172968796894	0.75
18	43223145	T	A	18	45643180	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.T1175A:p.V392E;SLC14A2:NM_007163:exon9:c.T1175A:p.V392E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.T1175A:p.V392E;ENSG00000132874:ENST00000586448:exon10:c.T1175A:p.V392E;	0.00131269502385311	0.07
18	43223145	T	C	18	45643180	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.T1175C:p.V392A;SLC14A2:NM_007163:exon9:c.T1175C:p.V392A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.T1175C:p.V392A;ENSG00000132874:ENST00000586448:exon10:c.T1175C:p.V392A;	0.0178386848280172	0.254
18	43223145	T	G	18	45643180	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon10:c.T1175G:p.V392G;SLC14A2:NM_007163:exon9:c.T1175G:p.V392G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.T1175G:p.V392G;ENSG00000132874:ENST00000586448:exon10:c.T1175G:p.V392G;	0.084679354096671	0.526
18	43223146	G	A	18	45643181	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon10:c.G1176A:p.V392V;SLC14A2:NM_007163:exon9:c.G1176A:p.V392V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.G1176A:p.V392V;ENSG00000132874:ENST00000586448:exon10:c.G1176A:p.V392V;	0.930388517629696	0.75
18	43223146	G	C	18	45643181	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon10:c.G1176C:p.V392V;SLC14A2:NM_007163:exon9:c.G1176C:p.V392V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.G1176C:p.V392V;ENSG00000132874:ENST00000586448:exon10:c.G1176C:p.V392V;	0.908233923805962	0.716
18	43223146	G	T	18	45643181	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon10:c.G1176T:p.V392V;SLC14A2:NM_007163:exon9:c.G1176T:p.V392V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon9:c.G1176T:p.V392V;ENSG00000132874:ENST00000586448:exon10:c.G1176T:p.V392V;	0.912823816103422	0.676
18	43223147	G	A	18	45643182	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1176+1G>A;NM_007163:exon9:c.1176+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1176+1G>A;ENST00000255226:exon9:c.1176+1G>A;ENST00000323329:exon10:c.1206+1G>A)	.	.	0.999990361384395	0.936
18	43223147	G	C	18	45643182	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1176+1G>C;NM_007163:exon9:c.1176+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1176+1G>C;ENST00000255226:exon9:c.1176+1G>C;ENST00000323329:exon10:c.1206+1G>C)	.	.	0.999990361384395	0.938
18	43223147	G	T	18	45643182	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1176+1G>T;NM_007163:exon9:c.1176+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1176+1G>T;ENST00000255226:exon9:c.1176+1G>T;ENST00000323329:exon10:c.1206+1G>T)	.	.	0.999990361384395	0.928
18	43223148	T	A	18	45643183	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1176+2T>A;NM_007163:exon9:c.1176+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1176+2T>A;ENST00000255226:exon9:c.1176+2T>A;ENST00000323329:exon10:c.1206+2T>A)	.	.	0.999988247793601	0.928
18	43223148	T	C	18	45643183	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1176+2T>C;NM_007163:exon9:c.1176+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1176+2T>C;ENST00000255226:exon9:c.1176+2T>C;ENST00000323329:exon10:c.1206+2T>C)	.	.	0.98918007292081	0.672
18	43223148	T	G	18	45643183	y	y	splicing	SLC14A2(NM_001242692:exon10:c.1176+2T>G;NM_007163:exon9:c.1176+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon10:c.1176+2T>G;ENST00000255226:exon9:c.1176+2T>G;ENST00000323329:exon10:c.1206+2T>G)	.	.	0.999988247793601	0.928
18	43223149	A	C	18	45643184	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.932646978931511	0.628
18	43223149	A	G	18	45643184	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00141740692660096	0.034
18	43223149	A	T	18	45643184	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.872571435267144	0.582
18	43223150	A	C	18	45643185	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.725263704854953	0.606
18	43223150	A	G	18	45643185	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.853288435210936	0.678
18	43223150	A	T	18	45643185	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.869851401282777	0.64
18	43223151	G	A	18	45643186	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999802365065681	0.944
18	43223151	G	C	18	45643186	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999163697052252	0.848
18	43223151	G	T	18	45643186	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999855368126622	0.932
18	43223152	T	A	18	45643187	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.313968867121327	0.42
18	43223152	T	C	18	45643187	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.244279876338012	0.544
18	43223152	T	G	18	45643187	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0276915629813041	0.344
18	43223153	G	A	18	45643188	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.35428655471156E-5	0.004
18	43223153	G	C	18	45643188	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.95815540499835E-5	0.01
18	43223153	G	T	18	45643188	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.44891277280084E-5	0.006
18	43223154	T	A	18	45643189	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.12064332043973E-4	0.006
18	43223154	T	C	18	45643189	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.81722667553069E-4	0.004
18	43223154	T	G	18	45643189	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.2572904573312E-4	0.004
18	43223939	T	A	18	45643974	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00729625829062882	0.102
18	43223939	T	C	18	45643974	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.6837407893605E-4	0.004
18	43223939	T	G	18	45643974	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00280796825790222	0.106
18	43223940	T	A	18	45643975	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0228920650904466	0.362
18	43223940	T	C	18	45643975	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0018031406812229	0.088
18	43223940	T	G	18	45643975	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0100308696667239	0.256
18	43223941	T	A	18	45643976	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0595150696882817	0.42
18	43223941	T	C	18	45643976	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.57292139555029E-4	0.008
18	43223941	T	G	18	45643976	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0132382714212465	0.358
18	43223942	T	A	18	45643977	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999308371370773	0.946
18	43223942	T	C	18	45643977	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.97821487709025E-4	0.036
18	43223942	T	G	18	45643977	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0376441031713475	0.328
18	43223943	G	A	18	45643978	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.57420459443258E-4	0.008
18	43223943	G	C	18	45643978	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.82621950052066E-5	0.014
18	43223943	G	T	18	45643978	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.40835921946837E-5	0.006
18	43223944	T	A	18	45643979	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00785378833088901	0.07
18	43223944	T	C	18	45643979	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.90431207467491E-5	0.0
18	43223944	T	G	18	45643979	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00154169507868997	0.022
18	43223945	T	A	18	45643980	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.191748133783662	0.446
18	43223945	T	C	18	45643980	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.45465889992405E-4	0.002
18	43223945	T	G	18	45643980	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0801924998732082	0.458
18	43223946	T	A	18	45643981	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.158884829386178	0.528
18	43223946	T	C	18	45643981	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00343502326451926	0.044
18	43223946	T	G	18	45643981	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.263864946803859	0.56
18	43223947	C	A	18	45643982	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.33079177233585E-4	0.07
18	43223947	C	G	18	45643982	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30951731837302E-4	0.012
18	43223947	C	T	18	45643982	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.50690214905144E-4	0.016
18	43223948	C	A	18	45643983	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.320174427180695	0.362
18	43223948	C	G	18	45643983	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.979075780524399	0.826
18	43223948	C	T	18	45643983	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.011139026353645	0.116
18	43223949	A	C	18	45643984	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1177-2A>C;NM_007163:exon10:c.1177-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1177-2A>C;ENST00000255226:exon10:c.1177-2A>C;ENST00000323329:exon11:c.1207-2A>C)	.	.	0.999988247793601	0.928
18	43223949	A	G	18	45643984	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1177-2A>G;NM_007163:exon10:c.1177-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1177-2A>G;ENST00000255226:exon10:c.1177-2A>G;ENST00000323329:exon11:c.1207-2A>G)	.	.	0.999988247793601	0.928
18	43223949	A	T	18	45643984	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1177-2A>T;NM_007163:exon10:c.1177-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1177-2A>T;ENST00000255226:exon10:c.1177-2A>T;ENST00000323329:exon11:c.1207-2A>T)	.	.	0.999988247793601	0.928
18	43223950	G	A	18	45643985	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1177-1G>A;NM_007163:exon10:c.1177-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1177-1G>A;ENST00000255226:exon10:c.1177-1G>A;ENST00000323329:exon11:c.1207-1G>A)	.	.	0.999985532734767	0.936
18	43223950	G	C	18	45643985	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1177-1G>C;NM_007163:exon10:c.1177-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1177-1G>C;ENST00000255226:exon10:c.1177-1G>C;ENST00000323329:exon11:c.1207-1G>C)	.	.	0.999985532734767	0.936
18	43223950	G	T	18	45643985	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1177-1G>T;NM_007163:exon10:c.1177-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1177-1G>T;ENST00000255226:exon10:c.1177-1G>T;ENST00000323329:exon11:c.1207-1G>T)	.	.	0.999985532734767	0.936
18	43223951	G	A	18	45643986	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.G1177A:p.V393M;SLC14A2:NM_007163:exon10:c.G1177A:p.V393M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.G1177A:p.V393M;ENSG00000132874:ENST00000586448:exon11:c.G1177A:p.V393M;	7.04510232772561E-4	0.166
18	43223951	G	C	18	45643986	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.G1177C:p.V393L;SLC14A2:NM_007163:exon10:c.G1177C:p.V393L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.G1177C:p.V393L;ENSG00000132874:ENST00000586448:exon11:c.G1177C:p.V393L;	0.0387042995515367	0.352
18	43223951	G	T	18	45643986	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.G1177T:p.V393L;SLC14A2:NM_007163:exon10:c.G1177T:p.V393L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.G1177T:p.V393L;ENSG00000132874:ENST00000586448:exon11:c.G1177T:p.V393L;	0.275733493956053	0.448
18	43223952	T	A	18	45643987	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.T1178A:p.V393E;SLC14A2:NM_007163:exon10:c.T1178A:p.V393E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.T1178A:p.V393E;ENSG00000132874:ENST00000586448:exon11:c.T1178A:p.V393E;	0.230615497076167	0.596
18	43223952	T	C	18	45643987	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.T1178C:p.V393A;SLC14A2:NM_007163:exon10:c.T1178C:p.V393A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.T1178C:p.V393A;ENSG00000132874:ENST00000586448:exon11:c.T1178C:p.V393A;	0.243023153651941	0.474
18	43223952	T	G	18	45643987	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.T1178G:p.V393G;SLC14A2:NM_007163:exon10:c.T1178G:p.V393G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.T1178G:p.V393G;ENSG00000132874:ENST00000586448:exon11:c.T1178G:p.V393G;	0.230615497076167	0.61
18	43224123	G	A	18	45644158	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.G1349A:p.S450N;SLC14A2:NM_007163:exon10:c.G1349A:p.S450N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.G1349A:p.S450N;ENSG00000132874:ENST00000586448:exon11:c.G1349A:p.S450N;	0.00131411544743959	0.034
18	43224123	G	C	18	45644158	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.G1349C:p.S450T;SLC14A2:NM_007163:exon10:c.G1349C:p.S450T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.G1349C:p.S450T;ENSG00000132874:ENST00000586448:exon11:c.G1349C:p.S450T;	3.99385820323465E-4	0.022
18	43224123	G	T	18	45644158	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.G1349T:p.S450I;SLC14A2:NM_007163:exon10:c.G1349T:p.S450I;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.G1349T:p.S450I;ENSG00000132874:ENST00000586448:exon11:c.G1349T:p.S450I;	0.112450484756612	0.336
18	43224124	C	A	18	45644159	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.C1350A:p.S450R;SLC14A2:NM_007163:exon10:c.C1350A:p.S450R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.C1350A:p.S450R;ENSG00000132874:ENST00000586448:exon11:c.C1350A:p.S450R;	9.23910965910215E-5	0.096
18	43224124	C	G	18	45644159	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.C1350G:p.S450R;SLC14A2:NM_007163:exon10:c.C1350G:p.S450R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.C1350G:p.S450R;ENSG00000132874:ENST00000586448:exon11:c.C1350G:p.S450R;	0.0251747661061719	0.198
18	43224124	C	T	18	45644159	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon11:c.C1350T:p.S450S;SLC14A2:NM_007163:exon10:c.C1350T:p.S450S;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.C1350T:p.S450S;ENSG00000132874:ENST00000586448:exon11:c.C1350T:p.S450S;	0.00290042695844645	0.12
18	43224125	G	A	18	45644160	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.G1351A:p.G451R;SLC14A2:NM_007163:exon10:c.G1351A:p.G451R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.G1351A:p.G451R;ENSG00000132874:ENST00000586448:exon11:c.G1351A:p.G451R;	0.999995997040629	1.0
18	43224125	G	C	18	45644160	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon11:c.G1351C:p.G451R;SLC14A2:NM_007163:exon10:c.G1351C:p.G451R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon10:c.G1351C:p.G451R;ENSG00000132874:ENST00000586448:exon11:c.G1351C:p.G451R;	0.999996833584097	0.996
18	43224125	G	T	18	45644160	y	y	exonic	SLC14A2	stopgain SNV	SLC14A2:NM_001242692:exon11:c.G1351T:p.G451X;SLC14A2:NM_007163:exon10:c.G1351T:p.G451X;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000255226:exon10:c.G1351T:p.G451X;ENSG00000132874:ENST00000586448:exon11:c.G1351T:p.G451X;	0.999989083668642	0.918
18	43224126	G	A	18	45644161	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1351+1G>A;NM_007163:exon10:c.1351+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1351+1G>A;ENST00000255226:exon10:c.1351+1G>A)	.	.	0.999988630721284	0.938
18	43224126	G	C	18	45644161	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1351+1G>C;NM_007163:exon10:c.1351+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1351+1G>C;ENST00000255226:exon10:c.1351+1G>C)	.	.	0.999988630721284	0.938
18	43224126	G	T	18	45644161	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1351+1G>T;NM_007163:exon10:c.1351+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1351+1G>T;ENST00000255226:exon10:c.1351+1G>T)	.	.	0.999988630721284	0.938
18	43224127	T	A	18	45644162	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1351+2T>A;NM_007163:exon10:c.1351+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1351+2T>A;ENST00000255226:exon10:c.1351+2T>A)	.	.	0.999990764389106	0.936
18	43224127	T	C	18	45644162	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1351+2T>C;NM_007163:exon10:c.1351+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1351+2T>C;ENST00000255226:exon10:c.1351+2T>C)	.	.	0.999942385779516	0.864
18	43224127	T	G	18	45644162	y	y	splicing	SLC14A2(NM_001242692:exon11:c.1351+2T>G;NM_007163:exon10:c.1351+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon11:c.1351+2T>G;ENST00000255226:exon10:c.1351+2T>G)	.	.	0.999990764389106	0.936
18	43224128	G	A	18	45644163	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.00136614138897881	0.088
18	43224128	G	C	18	45644163	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.999835532742841	0.874
18	43224128	G	T	18	45644163	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.999720390523055	0.9
18	43224129	A	C	18	45644164	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.999887227880912	0.928
18	43224129	A	G	18	45644164	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.999858834160688	0.956
18	43224129	A	T	18	45644164	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.999923036996192	0.912
18	43224130	A	C	18	45644165	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.00124875015793104	0.184
18	43224130	A	G	18	45644165	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	6.9622772927415E-4	0.004
18	43224130	A	T	18	45644165	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.0042078493602011	0.16
18	43224131	T	A	18	45644166	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.999420749013821	0.822
18	43224131	T	C	18	45644166	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.996291482576125	0.936
18	43224131	T	G	18	45644166	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.995326928441764	0.872
18	43224132	A	C	18	45644167	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.00894535203735708	0.054
18	43224132	A	G	18	45644167	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.0192243982541925	0.104
18	43224132	A	T	18	45644167	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.0230557852720208	0.146
18	43224133	G	A	18	45644168	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	0.00149146828883077	0.072
18	43224133	G	C	18	45644168	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	4.30652261176751E-4	0.04
18	43224133	G	T	18	45644168	y	y	intronic	SLC14A2	.	.	UTR3	ENSG00000132874	.	.	5.52074026080488E-4	0.04
18	43243738	G	A	18	45663773	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0556784739434395	0.166
18	43243738	G	C	18	45663773	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00343030644313607	0.1
18	43243738	G	T	18	45663773	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00343030644313607	0.152
18	43243739	C	A	18	45663774	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00228396600476373	0.074
18	43243739	C	G	18	45663774	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.36204345206558E-4	0.088
18	43243739	C	T	18	45663774	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.55995855451472E-5	0.0
18	43243740	C	A	18	45663775	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.526808871262378	0.3
18	43243740	C	G	18	45663775	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.10272724010396	0.176
18	43243740	C	T	18	45663775	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0107166836046648	0.146
18	43243741	C	A	18	45663776	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.074749475843039	0.386
18	43243741	C	G	18	45663776	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0239765346875678	0.194
18	43243741	C	T	18	45663776	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.85691126668625E-5	0.026
18	43243742	C	A	18	45663777	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.668216939231362	0.46
18	43243742	C	G	18	45663777	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.269924608313174	0.384
18	43243742	C	T	18	45663777	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00229410480863236	0.064
18	43243743	T	A	18	45663778	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.9999561040188	0.974
18	43243743	T	C	18	45663778	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.87213822755104E-5	0.034
18	43243743	T	G	18	45663778	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00291826058138873	0.18
18	43243744	G	A	18	45663779	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.997287311985743	0.97
18	43243744	G	C	18	45663779	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.19081656133921E-4	0.144
18	43243744	G	T	18	45663779	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.98613824403143E-5	0.026
18	43243745	G	A	18	45663780	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.2258118637578E-5	0.004
18	43243745	G	C	18	45663780	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.04977802816681E-4	0.022
18	43243745	G	T	18	45663780	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.98844613044438E-4	0.124
18	43243746	C	A	18	45663781	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.16126569613685E-4	0.004
18	43243746	C	G	18	45663781	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.94534429875585E-4	0.038
18	43243746	C	T	18	45663781	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.86609630021225E-4	0.15
18	43243747	T	A	18	45663782	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00265828797142437	0.302
18	43243747	T	C	18	45663782	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.1306580896392E-4	0.02
18	43243747	T	G	18	45663782	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0120950499280823	0.464
18	43243748	A	C	18	45663783	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1352-2A>C;NM_007163:exon11:c.1352-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1352-2A>C;ENST00000255226:exon11:c.1352-2A>C)	.	.	0.999975355715557	0.958
18	43243748	A	G	18	45663783	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1352-2A>G;NM_007163:exon11:c.1352-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1352-2A>G;ENST00000255226:exon11:c.1352-2A>G)	.	.	0.999975355715557	0.956
18	43243748	A	T	18	45663783	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1352-2A>T;NM_007163:exon11:c.1352-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1352-2A>T;ENST00000255226:exon11:c.1352-2A>T)	.	.	0.999975355715557	0.956
18	43243749	G	A	18	45663784	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1352-1G>A;NM_007163:exon11:c.1352-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1352-1G>A;ENST00000255226:exon11:c.1352-1G>A)	.	.	0.999938536028909	0.954
18	43243749	G	C	18	45663784	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1352-1G>C;NM_007163:exon11:c.1352-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1352-1G>C;ENST00000255226:exon11:c.1352-1G>C)	.	.	0.999915880790409	0.918
18	43243749	G	T	18	45663784	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1352-1G>T;NM_007163:exon11:c.1352-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1352-1G>T;ENST00000255226:exon11:c.1352-1G>T)	.	.	0.999936392132607	0.954
18	43243750	G	A	18	45663785	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.G1352A:p.G451E;SLC14A2:NM_007163:exon11:c.G1352A:p.G451E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.G1352A:p.G451E;ENSG00000132874:ENST00000586448:exon12:c.G1352A:p.G451E;	0.999747970560281	0.942
18	43243750	G	C	18	45663785	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.G1352C:p.G451A;SLC14A2:NM_007163:exon11:c.G1352C:p.G451A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.G1352C:p.G451A;ENSG00000132874:ENST00000586448:exon12:c.G1352C:p.G451A;	0.999610549292571	0.906
18	43243750	G	T	18	45663785	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.G1352T:p.G451V;SLC14A2:NM_007163:exon11:c.G1352T:p.G451V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.G1352T:p.G451V;ENSG00000132874:ENST00000586448:exon12:c.G1352T:p.G451V;	0.999806545477146	0.986
18	43243751	A	C	18	45663786	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon12:c.A1353C:p.G451G;SLC14A2:NM_007163:exon11:c.A1353C:p.G451G;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1353C:p.G451G;ENSG00000132874:ENST00000586448:exon12:c.A1353C:p.G451G;	1.09613037999968E-5	0.0
18	43243751	A	G	18	45663786	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon12:c.A1353G:p.G451G;SLC14A2:NM_007163:exon11:c.A1353G:p.G451G;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1353G:p.G451G;ENSG00000132874:ENST00000586448:exon12:c.A1353G:p.G451G;	1.50220678030249E-5	0.016
18	43243751	A	T	18	45663786	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon12:c.A1353T:p.G451G;SLC14A2:NM_007163:exon11:c.A1353T:p.G451G;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1353T:p.G451G;ENSG00000132874:ENST00000586448:exon12:c.A1353T:p.G451G;	5.89171835944506E-6	0.0
18	43243870	A	C	18	45663905	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.A1472C:p.K491T;SLC14A2:NM_007163:exon11:c.A1472C:p.K491T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1472C:p.K491T;ENSG00000132874:ENST00000586448:exon12:c.A1472C:p.K491T;	0.582167886431774	0.548
18	43243870	A	G	18	45663905	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.A1472G:p.K491R;SLC14A2:NM_007163:exon11:c.A1472G:p.K491R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1472G:p.K491R;ENSG00000132874:ENST00000586448:exon12:c.A1472G:p.K491R;	0.377913214400504	0.472
18	43243870	A	T	18	45663905	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.A1472T:p.K491I;SLC14A2:NM_007163:exon11:c.A1472T:p.K491I;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1472T:p.K491I;ENSG00000132874:ENST00000586448:exon12:c.A1472T:p.K491I;	0.995471687600457	0.804
18	43243871	A	C	18	45663906	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.A1473C:p.K491N;SLC14A2:NM_007163:exon11:c.A1473C:p.K491N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1473C:p.K491N;ENSG00000132874:ENST00000586448:exon12:c.A1473C:p.K491N;	0.99969501372877	0.976
18	43243871	A	G	18	45663906	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon12:c.A1473G:p.K491K;SLC14A2:NM_007163:exon11:c.A1473G:p.K491K;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1473G:p.K491K;ENSG00000132874:ENST00000586448:exon12:c.A1473G:p.K491K;	0.999382482058654	0.982
18	43243871	A	T	18	45663906	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.A1473T:p.K491N;SLC14A2:NM_007163:exon11:c.A1473T:p.K491N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.A1473T:p.K491N;ENSG00000132874:ENST00000586448:exon12:c.A1473T:p.K491N;	0.999887623929101	0.998
18	43243872	G	A	18	45663907	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.G1474A:p.V492M;SLC14A2:NM_007163:exon11:c.G1474A:p.V492M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.G1474A:p.V492M;ENSG00000132874:ENST00000586448:exon12:c.G1474A:p.V492M;	0.999985128934937	1.0
18	43243872	G	C	18	45663907	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.G1474C:p.V492L;SLC14A2:NM_007163:exon11:c.G1474C:p.V492L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.G1474C:p.V492L;ENSG00000132874:ENST00000586448:exon12:c.G1474C:p.V492L;	0.999996311596363	1.0
18	43243872	G	T	18	45663907	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon12:c.G1474T:p.V492L;SLC14A2:NM_007163:exon11:c.G1474T:p.V492L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon11:c.G1474T:p.V492L;ENSG00000132874:ENST00000586448:exon12:c.G1474T:p.V492L;	0.999980135180795	0.998
18	43243873	G	A	18	45663908	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1474+1G>A;NM_007163:exon11:c.1474+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1474+1G>A;ENST00000255226:exon11:c.1474+1G>A)	.	.	0.999981760802075	0.944
18	43243873	G	C	18	45663908	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1474+1G>C;NM_007163:exon11:c.1474+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1474+1G>C;ENST00000255226:exon11:c.1474+1G>C)	.	.	0.999981760802075	0.942
18	43243873	G	T	18	45663908	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1474+1G>T;NM_007163:exon11:c.1474+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1474+1G>T;ENST00000255226:exon11:c.1474+1G>T)	.	.	0.999981760802075	0.944
18	43243874	T	A	18	45663909	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1474+2T>A;NM_007163:exon11:c.1474+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1474+2T>A;ENST00000255226:exon11:c.1474+2T>A)	.	.	0.999989917668626	0.928
18	43243874	T	C	18	45663909	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1474+2T>C;NM_007163:exon11:c.1474+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1474+2T>C;ENST00000255226:exon11:c.1474+2T>C)	.	.	0.999939711763648	0.864
18	43243874	T	G	18	45663909	y	y	splicing	SLC14A2(NM_001242692:exon12:c.1474+2T>G;NM_007163:exon11:c.1474+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon12:c.1474+2T>G;ENST00000255226:exon11:c.1474+2T>G)	.	.	0.999989917668626	0.928
18	43243875	G	A	18	45663910	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.20505298858526E-4	0.076
18	43243875	G	C	18	45663910	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00728815291322935	0.272
18	43243875	G	T	18	45663910	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00771658943517985	0.276
18	43243876	T	A	18	45663911	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.82915431222802E-4	0.048
18	43243876	T	C	18	45663911	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00185041459753725	0.206
18	43243876	T	G	18	45663911	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.29240961229784E-5	0.086
18	43243877	G	A	18	45663912	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999952045719864	0.978
18	43243877	G	C	18	45663912	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999818355809317	0.952
18	43243877	G	T	18	45663912	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999989279943873	0.998
18	43243878	C	A	18	45663913	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.72019830043139E-4	0.03
18	43243878	C	G	18	45663913	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00127187228772398	0.16
18	43243878	C	T	18	45663913	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.7439659638959E-5	0.02
18	43243879	A	C	18	45663914	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.21388336692939E-5	0.0
18	43243879	A	G	18	45663914	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.97387466826741E-5	0.0
18	43243879	A	T	18	45663914	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.74236490953945E-4	0.096
18	43243880	T	A	18	45663915	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.94862025630215E-5	0.0
18	43243880	T	C	18	45663915	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.95248877199857E-5	0.002
18	43243880	T	G	18	45663915	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.53405478723277E-5	0.0
18	43246090	T	A	18	45666125	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.215450588363489	0.56
18	43246090	T	C	18	45666125	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.3673395252443E-4	0.108
18	43246090	T	G	18	45666125	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.194548826638145	0.572
18	43246091	T	A	18	45666126	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.930180842991665	0.788
18	43246091	T	C	18	45666126	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00770596554834257	0.144
18	43246091	T	G	18	45666126	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.751587120600482	0.778
18	43246092	C	A	18	45666127	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.231474949137646	0.294
18	43246092	C	G	18	45666127	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.334598415102075	0.258
18	43246092	C	T	18	45666127	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00293105635555194	0.068
18	43246093	T	A	18	45666128	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0635648841796644	0.506
18	43246093	T	C	18	45666128	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.58076421635268E-4	0.052
18	43246093	T	G	18	45666128	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0366524381636144	0.548
18	43246094	A	C	18	45666129	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.02124981369333E-5	0.0
18	43246094	A	G	18	45666129	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.90264396617176E-5	0.0
18	43246094	A	T	18	45666129	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.68879409084043E-5	0.0
18	43246095	A	C	18	45666130	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.07776192428945E-5	0.002
18	43246095	A	G	18	45666130	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998618074000736	0.952
18	43246095	A	T	18	45666130	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.01711474057267E-5	0.004
18	43246096	C	A	18	45666131	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0134515035053166	0.326
18	43246096	C	G	18	45666131	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999908037566016	0.976
18	43246096	C	T	18	45666131	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.90484636791268E-4	0.03
18	43246097	T	A	18	45666132	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.613820676591053	0.674
18	43246097	T	C	18	45666132	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00621162838785408	0.184
18	43246097	T	G	18	45666132	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.566124004092456	0.612
18	43246098	C	A	18	45666133	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.93661285345033E-5	0.004
18	43246098	C	G	18	45666133	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.0665369272894E-4	0.11
18	43246098	C	T	18	45666133	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.18519725648678E-5	0.004
18	43246099	C	A	18	45666134	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.980122241247067	0.774
18	43246099	C	G	18	45666134	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999654994679836	0.908
18	43246099	C	T	18	45666134	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00483791770565761	0.164
18	43246100	A	C	18	45666135	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1475-2A>C;NM_007163:exon12:c.1475-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1475-2A>C;ENST00000255226:exon12:c.1475-2A>C)	.	.	0.99993872479901	0.93
18	43246100	A	G	18	45666135	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1475-2A>G;NM_007163:exon12:c.1475-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1475-2A>G;ENST00000255226:exon12:c.1475-2A>G)	.	.	0.99993872479901	0.93
18	43246100	A	T	18	45666135	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1475-2A>T;NM_007163:exon12:c.1475-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1475-2A>T;ENST00000255226:exon12:c.1475-2A>T)	.	.	0.99993872479901	0.926
18	43246101	G	A	18	45666136	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1475-1G>A;NM_007163:exon12:c.1475-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1475-1G>A;ENST00000255226:exon12:c.1475-1G>A)	.	.	0.999977919436194	0.93
18	43246101	G	C	18	45666136	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1475-1G>C;NM_007163:exon12:c.1475-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1475-1G>C;ENST00000255226:exon12:c.1475-1G>C)	.	.	0.999943021995213	0.928
18	43246101	G	T	18	45666136	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1475-1G>T;NM_007163:exon12:c.1475-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1475-1G>T;ENST00000255226:exon12:c.1475-1G>T)	.	.	0.999943021995213	0.93
18	43246102	T	A	18	45666137	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.T1475A:p.V492E;SLC14A2:NM_007163:exon12:c.T1475A:p.V492E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1475A:p.V492E;ENSG00000132874:ENST00000586448:exon13:c.T1475A:p.V492E;	0.00259785619516529	0.076
18	43246102	T	C	18	45666137	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.T1475C:p.V492A;SLC14A2:NM_007163:exon12:c.T1475C:p.V492A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1475C:p.V492A;ENSG00000132874:ENST00000586448:exon13:c.T1475C:p.V492A;	0.0147907142898387	0.172
18	43246102	T	G	18	45666137	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.T1475G:p.V492G;SLC14A2:NM_007163:exon12:c.T1475G:p.V492G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1475G:p.V492G;ENSG00000132874:ENST00000586448:exon13:c.T1475G:p.V492G;	8.97550008952573E-4	0.122
18	43246103	G	A	18	45666138	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon13:c.G1476A:p.V492V;SLC14A2:NM_007163:exon12:c.G1476A:p.V492V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.G1476A:p.V492V;ENSG00000132874:ENST00000586448:exon13:c.G1476A:p.V492V;	3.00660889688638E-4	0.014
18	43246103	G	C	18	45666138	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon13:c.G1476C:p.V492V;SLC14A2:NM_007163:exon12:c.G1476C:p.V492V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.G1476C:p.V492V;ENSG00000132874:ENST00000586448:exon13:c.G1476C:p.V492V;	1.38223599615009E-4	0.002
18	43246103	G	T	18	45666138	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon13:c.G1476T:p.V492V;SLC14A2:NM_007163:exon12:c.G1476T:p.V492V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.G1476T:p.V492V;ENSG00000132874:ENST00000586448:exon13:c.G1476T:p.V492V;	9.63108920949858E-5	0.006
18	43246182	C	A	18	45666217	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.C1555A:p.L519I;SLC14A2:NM_007163:exon12:c.C1555A:p.L519I;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.C1555A:p.L519I;ENSG00000132874:ENST00000586448:exon13:c.C1555A:p.L519I;	0.00124498064577436	0.086
18	43246182	C	G	18	45666217	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.C1555G:p.L519V;SLC14A2:NM_007163:exon12:c.C1555G:p.L519V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.C1555G:p.L519V;ENSG00000132874:ENST00000586448:exon13:c.C1555G:p.L519V;	0.00408304949139394	0.104
18	43246182	C	T	18	45666217	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.C1555T:p.L519F;SLC14A2:NM_007163:exon12:c.C1555T:p.L519F;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.C1555T:p.L519F;ENSG00000132874:ENST00000586448:exon13:c.C1555T:p.L519F;	0.0881014700967269	0.424
18	43246183	T	A	18	45666218	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.T1556A:p.L519H;SLC14A2:NM_007163:exon12:c.T1556A:p.L519H;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1556A:p.L519H;ENSG00000132874:ENST00000586448:exon13:c.T1556A:p.L519H;	7.4438254472859E-5	0.07
18	43246183	T	C	18	45666218	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.T1556C:p.L519P;SLC14A2:NM_007163:exon12:c.T1556C:p.L519P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1556C:p.L519P;ENSG00000132874:ENST00000586448:exon13:c.T1556C:p.L519P;	1.52471057860063E-4	0.112
18	43246183	T	G	18	45666218	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon13:c.T1556G:p.L519R;SLC14A2:NM_007163:exon12:c.T1556G:p.L519R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1556G:p.L519R;ENSG00000132874:ENST00000586448:exon13:c.T1556G:p.L519R;	5.31842387649886E-4	0.246
18	43246184	T	A	18	45666219	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon13:c.T1557A:p.L519L;SLC14A2:NM_007163:exon12:c.T1557A:p.L519L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1557A:p.L519L;ENSG00000132874:ENST00000586448:exon13:c.T1557A:p.L519L;	1.83554777217062E-5	0.0
18	43246184	T	C	18	45666219	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon13:c.T1557C:p.L519L;SLC14A2:NM_007163:exon12:c.T1557C:p.L519L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1557C:p.L519L;ENSG00000132874:ENST00000586448:exon13:c.T1557C:p.L519L;	5.06537951189407E-5	0.04
18	43246184	T	G	18	45666219	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon13:c.T1557G:p.L519L;SLC14A2:NM_007163:exon12:c.T1557G:p.L519L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000255226:exon12:c.T1557G:p.L519L;ENSG00000132874:ENST00000586448:exon13:c.T1557G:p.L519L;	1.57677636584827E-4	0.008
18	43246185	G	A	18	45666220	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1557+1G>A;NM_007163:exon12:c.1557+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1557+1G>A;ENST00000255226:exon12:c.1557+1G>A)	.	.	0.999949962508874	0.958
18	43246185	G	C	18	45666220	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1557+1G>C;NM_007163:exon12:c.1557+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1557+1G>C;ENST00000255226:exon12:c.1557+1G>C)	.	.	0.999949962508874	0.956
18	43246185	G	T	18	45666220	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1557+1G>T;NM_007163:exon12:c.1557+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1557+1G>T;ENST00000255226:exon12:c.1557+1G>T)	.	.	0.999949962508874	0.954
18	43246186	T	A	18	45666221	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1557+2T>A;NM_007163:exon12:c.1557+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1557+2T>A;ENST00000255226:exon12:c.1557+2T>A)	.	.	0.999946188727699	0.964
18	43246186	T	C	18	45666221	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1557+2T>C;NM_007163:exon12:c.1557+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1557+2T>C;ENST00000255226:exon12:c.1557+2T>C)	.	.	0.999784920785882	0.946
18	43246186	T	G	18	45666221	y	y	splicing	SLC14A2(NM_001242692:exon13:c.1557+2T>G;NM_007163:exon12:c.1557+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon13:c.1557+2T>G;ENST00000255226:exon12:c.1557+2T>G)	.	.	0.999946188727699	0.95
18	43246187	G	A	18	45666222	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.15531410593508E-4	0.02
18	43246187	G	C	18	45666222	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999558025259927	0.79
18	43246187	G	T	18	45666222	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.99854936057777	0.754
18	43246188	A	C	18	45666223	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.991272033196381	0.76
18	43246188	A	G	18	45666223	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998778377454668	0.896
18	43246188	A	T	18	45666223	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999599984677159	0.88
18	43246189	G	A	18	45666224	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.99997342422371	0.968
18	43246189	G	C	18	45666224	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999986218564102	0.914
18	43246189	G	T	18	45666224	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999975687163851	0.786
18	43246190	T	A	18	45666225	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.995809782418832	0.738
18	43246190	T	C	18	45666225	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.984897322877447	0.844
18	43246190	T	G	18	45666225	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.979216106135134	0.754
18	43246191	A	C	18	45666226	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.3973947228424E-5	0.004
18	43246191	A	G	18	45666226	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.96352567903833E-5	0.004
18	43246191	A	T	18	45666226	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.38669503936407E-4	0.032
18	43246192	C	A	18	45666227	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.96061321330601E-4	0.024
18	43246192	C	G	18	45666227	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.46726871354351E-4	0.024
18	43246192	C	T	18	45666227	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.36943851558281E-4	0.054
18	43246888	T	A	18	45666923	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999895426686634	0.982
18	43246888	T	C	18	45666923	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00147674080398447	0.1
18	43246888	T	G	18	45666923	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.130904343028055	0.378
18	43246889	G	A	18	45666924	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.27777944661357E-4	0.002
18	43246889	G	C	18	45666924	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.22324660413101E-5	0.002
18	43246889	G	T	18	45666924	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.49471964514012E-5	0.038
18	43246890	T	A	18	45666925	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.41126810427565	0.53
18	43246890	T	C	18	45666925	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00138145965215355	0.09
18	43246890	T	G	18	45666925	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0701393373924006	0.482
18	43246891	C	A	18	45666926	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.014457462881538	0.1
18	43246891	C	G	18	45666926	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0033116758074881	0.108
18	43246891	C	T	18	45666926	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.29581145499909E-4	0.006
18	43246892	C	A	18	45666927	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00215451029901302	0.114
18	43246892	C	G	18	45666927	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00846972293098261	0.122
18	43246892	C	T	18	45666927	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.31959408983246E-4	0.11
18	43246893	T	A	18	45666928	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.996549145519857	0.954
18	43246893	T	C	18	45666928	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.45062074870135E-4	0.008
18	43246893	T	G	18	45666928	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00186970154512466	0.106
18	43246894	G	A	18	45666929	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.995684177328195	0.968
18	43246894	G	C	18	45666929	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.50106619841518E-5	0.008
18	43246894	G	T	18	45666929	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.94071583457583E-5	0.044
18	43246895	G	A	18	45666930	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.97463208295591E-4	0.004
18	43246895	G	C	18	45666930	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.54436799010228E-4	0.002
18	43246895	G	T	18	45666930	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.83426538544753E-4	0.016
18	43246896	A	C	18	45666931	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.45341773225991E-4	0.04
18	43246896	A	G	18	45666931	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.91613147801787E-4	0.006
18	43246896	A	T	18	45666931	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.17473751191257E-4	0.0
18	43246897	C	A	18	45666932	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.950689983329301	0.698
18	43246897	C	G	18	45666932	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.997410024845929	0.628
18	43246897	C	T	18	45666932	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00387495285345734	0.202
18	43246898	A	C	18	45666933	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1558-2A>C;NM_007163:exon13:c.1558-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1558-2A>C;ENST00000255226:exon13:c.1558-2A>C)	.	.	0.999969393053703	0.906
18	43246898	A	G	18	45666933	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1558-2A>G;NM_007163:exon13:c.1558-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1558-2A>G;ENST00000255226:exon13:c.1558-2A>G)	.	.	0.999969393053703	0.906
18	43246898	A	T	18	45666933	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1558-2A>T;NM_007163:exon13:c.1558-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1558-2A>T;ENST00000255226:exon13:c.1558-2A>T)	.	.	0.999979863570546	0.908
18	43246899	G	A	18	45666934	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1558-1G>A;NM_007163:exon13:c.1558-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1558-1G>A;ENST00000255226:exon13:c.1558-1G>A)	.	.	0.99996331125795	0.904
18	43246899	G	C	18	45666934	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1558-1G>C;NM_007163:exon13:c.1558-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1558-1G>C;ENST00000255226:exon13:c.1558-1G>C)	.	.	0.999965298798082	0.894
18	43246899	G	T	18	45666934	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1558-1G>T;NM_007163:exon13:c.1558-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1558-1G>T;ENST00000255226:exon13:c.1558-1G>T)	.	.	0.99996331125795	0.904
18	43246900	G	A	18	45666935	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.G1558A:p.D520N;SLC14A2:NM_007163:exon13:c.G1558A:p.D520N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon13:c.G1558A:p.D520N;ENSG00000132874:ENST00000586448:exon14:c.G1558A:p.D520N;	0.00660438086463625	0.188
18	43246900	G	C	18	45666935	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.G1558C:p.D520H;SLC14A2:NM_007163:exon13:c.G1558C:p.D520H;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon13:c.G1558C:p.D520H;ENSG00000132874:ENST00000586448:exon14:c.G1558C:p.D520H;	0.0126953807764948	0.458
18	43246900	G	T	18	45666935	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.G1558T:p.D520Y;SLC14A2:NM_007163:exon13:c.G1558T:p.D520Y;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon13:c.G1558T:p.D520Y;ENSG00000132874:ENST00000586448:exon14:c.G1558T:p.D520Y;	0.43376472026109	0.576
18	43246901	A	C	18	45666936	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.A1559C:p.D520A;SLC14A2:NM_007163:exon13:c.A1559C:p.D520A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon13:c.A1559C:p.D520A;ENSG00000132874:ENST00000586448:exon14:c.A1559C:p.D520A;	6.8545348053206E-5	0.014
18	43246901	A	G	18	45666936	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.A1559G:p.D520G;SLC14A2:NM_007163:exon13:c.A1559G:p.D520G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon13:c.A1559G:p.D520G;ENSG00000132874:ENST00000586448:exon14:c.A1559G:p.D520G;	3.94608280379881E-4	0.022
18	43246901	A	T	18	45666936	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.A1559T:p.D520V;SLC14A2:NM_007163:exon13:c.A1559T:p.D520V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000255226:exon13:c.A1559T:p.D520V;ENSG00000132874:ENST00000586448:exon14:c.A1559T:p.D520V;	1.27512171907514E-4	0.028
18	43247057	A	C	18	45667092	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.A1715C:p.K572T;SLC14A2:NM_007163:exon13:c.A1715C:p.K572T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.A146C:p.K49T;ENSG00000132874:ENST00000255226:exon13:c.A1715C:p.K572T;ENSG00000132874:ENST00000586448:exon14:c.A1715C:p.K572T;	0.00532087921122874	0.05
18	43247057	A	G	18	45667092	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.A1715G:p.K572R;SLC14A2:NM_007163:exon13:c.A1715G:p.K572R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.A146G:p.K49R;ENSG00000132874:ENST00000255226:exon13:c.A1715G:p.K572R;ENSG00000132874:ENST00000586448:exon14:c.A1715G:p.K572R;	0.0036020672431705	0.234
18	43247057	A	T	18	45667092	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.A1715T:p.K572I;SLC14A2:NM_007163:exon13:c.A1715T:p.K572I;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.A146T:p.K49I;ENSG00000132874:ENST00000255226:exon13:c.A1715T:p.K572I;ENSG00000132874:ENST00000586448:exon14:c.A1715T:p.K572I;	0.983585212650122	0.798
18	43247058	A	C	18	45667093	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.A1716C:p.K572N;SLC14A2:NM_007163:exon13:c.A1716C:p.K572N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.A147C:p.K49N;ENSG00000132874:ENST00000255226:exon13:c.A1716C:p.K572N;ENSG00000132874:ENST00000586448:exon14:c.A1716C:p.K572N;	0.983592207525544	0.696
18	43247058	A	G	18	45667093	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon14:c.A1716G:p.K572K;SLC14A2:NM_007163:exon13:c.A1716G:p.K572K;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.A147G:p.K49K;ENSG00000132874:ENST00000255226:exon13:c.A1716G:p.K572K;ENSG00000132874:ENST00000586448:exon14:c.A1716G:p.K572K;	0.954398980719019	0.626
18	43247058	A	T	18	45667093	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.A1716T:p.K572N;SLC14A2:NM_007163:exon13:c.A1716T:p.K572N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.A147T:p.K49N;ENSG00000132874:ENST00000255226:exon13:c.A1716T:p.K572N;ENSG00000132874:ENST00000586448:exon14:c.A1716T:p.K572N;	0.994630406870557	0.834
18	43247059	G	A	18	45667094	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.G1717A:p.D573N;SLC14A2:NM_007163:exon13:c.G1717A:p.D573N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.G148A:p.D50N;ENSG00000132874:ENST00000255226:exon13:c.G1717A:p.D573N;ENSG00000132874:ENST00000586448:exon14:c.G1717A:p.D573N;	0.99998154300929	0.998
18	43247059	G	C	18	45667094	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.G1717C:p.D573H;SLC14A2:NM_007163:exon13:c.G1717C:p.D573H;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.G148C:p.D50H;ENSG00000132874:ENST00000255226:exon13:c.G1717C:p.D573H;ENSG00000132874:ENST00000586448:exon14:c.G1717C:p.D573H;	0.999989182958268	0.996
18	43247059	G	T	18	45667094	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon14:c.G1717T:p.D573Y;SLC14A2:NM_007163:exon13:c.G1717T:p.D573Y;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon2:c.G148T:p.D50Y;ENSG00000132874:ENST00000255226:exon13:c.G1717T:p.D573Y;ENSG00000132874:ENST00000586448:exon14:c.G1717T:p.D573Y;	0.999953889640959	1.0
18	43247060	G	A	18	45667095	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1717+1G>A;NM_007163:exon13:c.1717+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1717+1G>A;ENST00000255226:exon13:c.1717+1G>A;ENST00000589658:exon2:c.148+1G>A)	.	.	0.999915710762489	0.946
18	43247060	G	C	18	45667095	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1717+1G>C;NM_007163:exon13:c.1717+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1717+1G>C;ENST00000255226:exon13:c.1717+1G>C;ENST00000589658:exon2:c.148+1G>C)	.	.	0.999915710762489	0.954
18	43247060	G	T	18	45667095	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1717+1G>T;NM_007163:exon13:c.1717+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1717+1G>T;ENST00000255226:exon13:c.1717+1G>T;ENST00000589658:exon2:c.148+1G>T)	.	.	0.999915710762489	0.948
18	43247061	T	A	18	45667096	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1717+2T>A;NM_007163:exon13:c.1717+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1717+2T>A;ENST00000255226:exon13:c.1717+2T>A;ENST00000589658:exon2:c.148+2T>A)	.	.	0.999975706799895	0.95
18	43247061	T	C	18	45667096	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1717+2T>C;NM_007163:exon13:c.1717+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1717+2T>C;ENST00000255226:exon13:c.1717+2T>C;ENST00000589658:exon2:c.148+2T>C)	.	.	0.970919760484553	0.67
18	43247061	T	G	18	45667096	y	y	splicing	SLC14A2(NM_001242692:exon14:c.1717+2T>G;NM_007163:exon13:c.1717+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon14:c.1717+2T>G;ENST00000255226:exon13:c.1717+2T>G;ENST00000589658:exon2:c.148+2T>G)	.	.	0.999975706799895	0.954
18	43247062	A	C	18	45667097	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.997385119895048	0.618
18	43247062	A	G	18	45667097	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.37767616098407	0.442
18	43247062	A	T	18	45667097	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.992010238202504	0.626
18	43247063	A	C	18	45667098	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0193319337341833	0.366
18	43247063	A	G	18	45667098	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0225136131800157	0.362
18	43247063	A	T	18	45667098	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.083387492749959	0.422
18	43247064	A	C	18	45667099	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.30107387243409E-5	0.018
18	43247064	A	G	18	45667099	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.11354750840829E-4	0.004
18	43247064	A	T	18	45667099	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.24590289433687E-5	0.004
18	43247065	A	C	18	45667100	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.01237957772884E-4	0.016
18	43247065	A	G	18	45667100	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.5703861707328E-5	0.0
18	43247065	A	T	18	45667100	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.42954537825878E-5	0.0
18	43247066	T	A	18	45667101	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.6052816285784E-4	0.002
18	43247066	T	C	18	45667101	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.43353011224805E-4	0.004
18	43247066	T	G	18	45667101	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.99775450040187E-4	0.014
18	43247067	T	A	18	45667102	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.16270597678335E-5	0.0
18	43247067	T	C	18	45667102	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.1594757190692E-5	0.0
18	43247067	T	G	18	45667102	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.37990397511338E-5	0.0
18	43247786	G	A	18	45667821	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.22520081352384E-5	0.004
18	43247786	G	C	18	45667821	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.15879401801966E-5	0.012
18	43247786	G	T	18	45667821	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.17913830874576E-5	0.022
18	43247787	T	A	18	45667822	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0684391386043642	0.342
18	43247787	T	C	18	45667822	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00114226447969838	0.056
18	43247787	T	G	18	45667822	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0283661855223101	0.338
18	43247788	T	A	18	45667823	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0049984918121256	0.1
18	43247788	T	C	18	45667823	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.72573120727828E-5	0.008
18	43247788	T	G	18	45667823	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00648538680547362	0.11
18	43247789	C	A	18	45667824	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0230983032536625	0.132
18	43247789	C	G	18	45667824	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00189466140464024	0.076
18	43247789	C	T	18	45667824	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.11643432891466E-5	0.002
18	43247790	C	A	18	45667825	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0102794485007156	0.072
18	43247790	C	G	18	45667825	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00373035282568098	0.076
18	43247790	C	T	18	45667825	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.12609315113522E-4	0.0
18	43247791	A	C	18	45667826	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.75553467871751E-5	0.0
18	43247791	A	G	18	45667826	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.30691927753517E-5	0.0
18	43247791	A	T	18	45667826	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.75553467871751E-5	0.0
18	43247792	T	A	18	45667827	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.61978286271829	0.464
18	43247792	T	C	18	45667827	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.7857606655113E-4	0.054
18	43247792	T	G	18	45667827	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999963088254585	0.972
18	43247793	T	A	18	45667828	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.923908267732606	0.636
18	43247793	T	C	18	45667828	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0270957184231743	0.162
18	43247793	T	G	18	45667828	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.915130448734945	0.642
18	43247794	T	A	18	45667829	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.87899551504976E-5	0.0
18	43247794	T	C	18	45667829	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.18332230437305E-4	0.02
18	43247794	T	G	18	45667829	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.64087684959545E-4	0.014
18	43247795	C	A	18	45667830	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.946857769981047	0.826
18	43247795	C	G	18	45667830	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999767709964413	0.928
18	43247795	C	T	18	45667830	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00251405593150732	0.04
18	43247796	A	C	18	45667831	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1718-2A>C;NM_007163:exon14:c.1718-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1718-2A>C;ENST00000255226:exon14:c.1718-2A>C;ENST00000589658:exon3:c.149-2A>C)	.	.	0.999989917668626	0.922
18	43247796	A	G	18	45667831	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1718-2A>G;NM_007163:exon14:c.1718-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1718-2A>G;ENST00000255226:exon14:c.1718-2A>G;ENST00000589658:exon3:c.149-2A>G)	.	.	0.999989917668626	0.922
18	43247796	A	T	18	45667831	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1718-2A>T;NM_007163:exon14:c.1718-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1718-2A>T;ENST00000255226:exon14:c.1718-2A>T;ENST00000589658:exon3:c.149-2A>T)	.	.	0.999989917668626	0.924
18	43247797	G	A	18	45667832	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1718-1G>A;NM_007163:exon14:c.1718-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1718-1G>A;ENST00000255226:exon14:c.1718-1G>A;ENST00000589658:exon3:c.149-1G>A)	.	.	0.999986675681007	0.934
18	43247797	G	C	18	45667832	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1718-1G>C;NM_007163:exon14:c.1718-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1718-1G>C;ENST00000255226:exon14:c.1718-1G>C;ENST00000589658:exon3:c.149-1G>C)	.	.	0.999986675681007	0.934
18	43247797	G	T	18	45667832	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1718-1G>T;NM_007163:exon14:c.1718-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1718-1G>T;ENST00000255226:exon14:c.1718-1G>T;ENST00000589658:exon3:c.149-1G>T)	.	.	0.999986675681007	0.934
18	43247798	A	C	18	45667833	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.A1718C:p.D573A;SLC14A2:NM_007163:exon14:c.A1718C:p.D573A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.A149C:p.D50A;ENSG00000132874:ENST00000255226:exon14:c.A1718C:p.D573A;ENSG00000132874:ENST00000586448:exon15:c.A1718C:p.D573A;	0.233394824455215	0.51
18	43247798	A	G	18	45667833	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.A1718G:p.D573G;SLC14A2:NM_007163:exon14:c.A1718G:p.D573G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.A149G:p.D50G;ENSG00000132874:ENST00000255226:exon14:c.A1718G:p.D573G;ENSG00000132874:ENST00000586448:exon15:c.A1718G:p.D573G;	0.00300653032724756	0.04
18	43247798	A	T	18	45667833	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.A1718T:p.D573V;SLC14A2:NM_007163:exon14:c.A1718T:p.D573V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.A149T:p.D50V;ENSG00000132874:ENST00000255226:exon14:c.A1718T:p.D573V;ENSG00000132874:ENST00000586448:exon15:c.A1718T:p.D573V;	0.235916581540893	0.462
18	43247799	C	A	18	45667834	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.C1719A:p.D573E;SLC14A2:NM_007163:exon14:c.C1719A:p.D573E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.C150A:p.D50E;ENSG00000132874:ENST00000255226:exon14:c.C1719A:p.D573E;ENSG00000132874:ENST00000586448:exon15:c.C1719A:p.D573E;	0.00172103224299414	0.072
18	43247799	C	G	18	45667834	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.C1719G:p.D573E;SLC14A2:NM_007163:exon14:c.C1719G:p.D573E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.C150G:p.D50E;ENSG00000132874:ENST00000255226:exon14:c.C1719G:p.D573E;ENSG00000132874:ENST00000586448:exon15:c.C1719G:p.D573E;	0.002162940649189	0.1
18	43247799	C	T	18	45667834	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon15:c.C1719T:p.D573D;SLC14A2:NM_007163:exon14:c.C1719T:p.D573D;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.C150T:p.D50D;ENSG00000132874:ENST00000255226:exon14:c.C1719T:p.D573D;ENSG00000132874:ENST00000586448:exon15:c.C1719T:p.D573D;	2.53861068534711E-4	0.02
18	43247985	C	A	18	45668020	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.C1905A:p.D635E;SLC14A2:NM_007163:exon14:c.C1905A:p.D635E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.C336A:p.D112E;ENSG00000132874:ENST00000255226:exon14:c.C1905A:p.D635E;ENSG00000132874:ENST00000586448:exon15:c.C1905A:p.D635E;	0.547552196771649	0.506
18	43247985	C	G	18	45668020	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.C1905G:p.D635E;SLC14A2:NM_007163:exon14:c.C1905G:p.D635E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.C336G:p.D112E;ENSG00000132874:ENST00000255226:exon14:c.C1905G:p.D635E;ENSG00000132874:ENST00000586448:exon15:c.C1905G:p.D635E;	0.451126765840247	0.352
18	43247985	C	T	18	45668020	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon15:c.C1905T:p.D635D;SLC14A2:NM_007163:exon14:c.C1905T:p.D635D;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.C336T:p.D112D;ENSG00000132874:ENST00000255226:exon14:c.C1905T:p.D635D;ENSG00000132874:ENST00000586448:exon15:c.C1905T:p.D635D;	0.0661851331515823	0.39
18	43247986	A	C	18	45668021	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.A1906C:p.K636Q;SLC14A2:NM_007163:exon14:c.A1906C:p.K636Q;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.A337C:p.K113Q;ENSG00000132874:ENST00000255226:exon14:c.A1906C:p.K636Q;ENSG00000132874:ENST00000586448:exon15:c.A1906C:p.K636Q;	0.899836173332889	0.558
18	43247986	A	G	18	45668021	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.A1906G:p.K636E;SLC14A2:NM_007163:exon14:c.A1906G:p.K636E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.A337G:p.K113E;ENSG00000132874:ENST00000255226:exon14:c.A1906G:p.K636E;ENSG00000132874:ENST00000586448:exon15:c.A1906G:p.K636E;	0.85275122929937	0.562
18	43247986	A	T	18	45668021	y	y	exonic	SLC14A2	stopgain SNV	SLC14A2:NM_001242692:exon15:c.A1906T:p.K636X;SLC14A2:NM_007163:exon14:c.A1906T:p.K636X;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000589658:exon3:c.A337T:p.K113X;ENSG00000132874:ENST00000255226:exon14:c.A1906T:p.K636X;ENSG00000132874:ENST00000586448:exon15:c.A1906T:p.K636X;	0.989130329290221	0.784
18	43247987	A	C	18	45668022	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.A1907C:p.K636T;SLC14A2:NM_007163:exon14:c.A1907C:p.K636T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.A338C:p.K113T;ENSG00000132874:ENST00000255226:exon14:c.A1907C:p.K636T;ENSG00000132874:ENST00000586448:exon15:c.A1907C:p.K636T;	1.50697419083544E-4	0.024
18	43247987	A	G	18	45668022	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.A1907G:p.K636R;SLC14A2:NM_007163:exon14:c.A1907G:p.K636R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.A338G:p.K113R;ENSG00000132874:ENST00000255226:exon14:c.A1907G:p.K636R;ENSG00000132874:ENST00000586448:exon15:c.A1907G:p.K636R;	3.12947466657208E-5	0.03
18	43247987	A	T	18	45668022	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon15:c.A1907T:p.K636M;SLC14A2:NM_007163:exon14:c.A1907T:p.K636M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon3:c.A338T:p.K113M;ENSG00000132874:ENST00000255226:exon14:c.A1907T:p.K636M;ENSG00000132874:ENST00000586448:exon15:c.A1907T:p.K636M;	4.99048110146192E-5	0.1
18	43247988	G	A	18	45668023	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1907+1G>A;NM_007163:exon14:c.1907+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1907+1G>A;ENST00000255226:exon14:c.1907+1G>A;ENST00000589658:exon3:c.338+1G>A)	.	.	0.999946188727699	0.948
18	43247988	G	C	18	45668023	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1907+1G>C;NM_007163:exon14:c.1907+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1907+1G>C;ENST00000255226:exon14:c.1907+1G>C;ENST00000589658:exon3:c.338+1G>C)	.	.	0.999946188727699	0.94
18	43247988	G	T	18	45668023	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1907+1G>T;NM_007163:exon14:c.1907+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1907+1G>T;ENST00000255226:exon14:c.1907+1G>T;ENST00000589658:exon3:c.338+1G>T)	.	.	0.999946188727699	0.946
18	43247989	T	A	18	45668024	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1907+2T>A;NM_007163:exon14:c.1907+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1907+2T>A;ENST00000255226:exon14:c.1907+2T>A;ENST00000589658:exon3:c.338+2T>A)	.	.	0.999978986619032	0.944
18	43247989	T	C	18	45668024	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1907+2T>C;NM_007163:exon14:c.1907+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1907+2T>C;ENST00000255226:exon14:c.1907+2T>C;ENST00000589658:exon3:c.338+2T>C)	.	.	0.959765556543807	0.582
18	43247989	T	G	18	45668024	y	y	splicing	SLC14A2(NM_001242692:exon15:c.1907+2T>G;NM_007163:exon14:c.1907+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon15:c.1907+2T>G;ENST00000255226:exon14:c.1907+2T>G;ENST00000589658:exon3:c.338+2T>G)	.	.	0.999978986619032	0.938
18	43247990	A	C	18	45668025	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998072327392648	0.752
18	43247990	A	G	18	45668025	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.98237060576585E-4	0.042
18	43247990	A	T	18	45668025	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.938066827846809	0.598
18	43247991	A	C	18	45668026	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.501862628434509	0.444
18	43247991	A	G	18	45668026	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.703797640411058	0.468
18	43247991	A	T	18	45668026	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.452400690103325	0.494
18	43247992	G	A	18	45668027	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.993757033914003	0.746
18	43247992	G	C	18	45668027	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.993868588764294	0.794
18	43247992	G	T	18	45668027	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.989792791413777	0.696
18	43247993	T	A	18	45668028	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.18763828056232	0.38
18	43247993	T	C	18	45668028	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.324284953460992	0.486
18	43247993	T	G	18	45668028	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0667255367041711	0.352
18	43247994	C	A	18	45668029	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.52293868212492E-5	0.0
18	43247994	C	G	18	45668029	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.585416616557E-5	0.0
18	43247994	C	T	18	45668029	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.26824569549532E-5	0.0
18	43247995	C	A	18	45668030	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.06901716179216E-4	0.002
18	43247995	C	G	18	45668030	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.19886492843966E-5	0.0
18	43247995	C	T	18	45668030	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.4916954340738E-4	0.002
18	43248302	C	A	18	45668337	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.95325670140301E-4	0.02
18	43248302	C	G	18	45668337	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.16998414082746E-4	0.012
18	43248302	C	T	18	45668337	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.0129609304336E-5	0.002
18	43248303	T	A	18	45668338	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00340488225571417	0.134
18	43248303	T	C	18	45668338	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.53091556121752E-5	0.058
18	43248303	T	G	18	45668338	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.70108708293372E-4	0.132
18	43248304	C	A	18	45668339	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00147692548913758	0.052
18	43248304	C	G	18	45668339	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.16357008237694E-4	0.012
18	43248304	C	T	18	45668339	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.76484574077331E-5	0.002
18	43248305	T	A	18	45668340	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.12273065767318E-4	0.104
18	43248305	T	C	18	45668340	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.44776850843074E-5	0.002
18	43248305	T	G	18	45668340	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.68602977972155E-4	0.042
18	43248306	C	A	18	45668341	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.24755645171455E-4	0.042
18	43248306	C	G	18	45668341	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.81828299321885E-4	0.066
18	43248306	C	T	18	45668341	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.25921003508914E-5	0.0
18	43248307	C	A	18	45668342	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.23757905925845E-4	0.014
18	43248307	C	G	18	45668342	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.1960981409379E-4	0.014
18	43248307	C	T	18	45668342	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.24105077085993E-5	0.0
18	43248308	T	A	18	45668343	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.992438122883098	0.926
18	43248308	T	C	18	45668343	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.22433588768222E-5	0.002
18	43248308	T	G	18	45668343	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.67751042886619E-4	0.028
18	43248309	G	A	18	45668344	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	2.85958665247262E-5	0.01
18	43248309	G	C	18	45668344	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.41746725619058E-6	0.0
18	43248309	G	T	18	45668344	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.16427556116979E-5	0.0
18	43248310	C	A	18	45668345	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.68137950240167E-5	0.0
18	43248310	C	G	18	45668345	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.59185033172162E-5	0.0
18	43248310	C	T	18	45668345	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.8124768003588E-5	0.0
18	43248311	C	A	18	45668346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.407085708739779	0.446
18	43248311	C	G	18	45668346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.99389559082629	0.888
18	43248311	C	T	18	45668346	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00407887253638831	0.042
18	43248312	A	C	18	45668347	y	y	splicing	SLC14A2(NM_001242692:exon16:c.1908-2A>C;NM_007163:exon15:c.1908-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.1908-2A>C;ENST00000255226:exon15:c.1908-2A>C;ENST00000589658:exon4:c.339-2A>C)	.	.	0.999978156327223	0.934
18	43248312	A	G	18	45668347	y	y	splicing	SLC14A2(NM_001242692:exon16:c.1908-2A>G;NM_007163:exon15:c.1908-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.1908-2A>G;ENST00000255226:exon15:c.1908-2A>G;ENST00000589658:exon4:c.339-2A>G)	.	.	0.999978156327223	0.934
18	43248312	A	T	18	45668347	y	y	splicing	SLC14A2(NM_001242692:exon16:c.1908-2A>T;NM_007163:exon15:c.1908-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.1908-2A>T;ENST00000255226:exon15:c.1908-2A>T;ENST00000589658:exon4:c.339-2A>T)	.	.	0.999966514958823	0.936
18	43248313	G	A	18	45668348	y	y	splicing	SLC14A2(NM_001242692:exon16:c.1908-1G>A;NM_007163:exon15:c.1908-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.1908-1G>A;ENST00000255226:exon15:c.1908-1G>A;ENST00000589658:exon4:c.339-1G>A)	.	.	0.999938422912956	0.956
18	43248313	G	C	18	45668348	y	y	splicing	SLC14A2(NM_001242692:exon16:c.1908-1G>C;NM_007163:exon15:c.1908-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.1908-1G>C;ENST00000255226:exon15:c.1908-1G>C;ENST00000589658:exon4:c.339-1G>C)	.	.	0.999938990645747	0.956
18	43248313	G	T	18	45668348	y	y	splicing	SLC14A2(NM_001242692:exon16:c.1908-1G>T;NM_007163:exon15:c.1908-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.1908-1G>T;ENST00000255226:exon15:c.1908-1G>T;ENST00000589658:exon4:c.339-1G>T)	.	.	0.999938990645747	0.956
18	43248314	G	A	18	45668349	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon16:c.G1908A:p.K636K;SLC14A2:NM_007163:exon15:c.G1908A:p.K636K;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.G339A:p.K113K;ENSG00000132874:ENST00000255226:exon15:c.G1908A:p.K636K;ENSG00000132874:ENST00000586448:exon16:c.G1908A:p.K636K;	9.97348062952818E-4	0.148
18	43248314	G	C	18	45668349	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.G1908C:p.K636N;SLC14A2:NM_007163:exon15:c.G1908C:p.K636N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.G339C:p.K113N;ENSG00000132874:ENST00000255226:exon15:c.G1908C:p.K636N;ENSG00000132874:ENST00000586448:exon16:c.G1908C:p.K636N;	0.0376393579833779	0.28
18	43248314	G	T	18	45668349	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.G1908T:p.K636N;SLC14A2:NM_007163:exon15:c.G1908T:p.K636N;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.G339T:p.K113N;ENSG00000132874:ENST00000255226:exon15:c.G1908T:p.K636N;ENSG00000132874:ENST00000586448:exon16:c.G1908T:p.K636N;	0.373875506708034	0.438
18	43248315	T	A	18	45668350	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.T1909A:p.S637T;SLC14A2:NM_007163:exon15:c.T1909A:p.S637T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T340A:p.S114T;ENSG00000132874:ENST00000255226:exon15:c.T1909A:p.S637T;ENSG00000132874:ENST00000586448:exon16:c.T1909A:p.S637T;	0.0192843159476998	0.178
18	43248315	T	C	18	45668350	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.T1909C:p.S637P;SLC14A2:NM_007163:exon15:c.T1909C:p.S637P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T340C:p.S114P;ENSG00000132874:ENST00000255226:exon15:c.T1909C:p.S637P;ENSG00000132874:ENST00000586448:exon16:c.T1909C:p.S637P;	0.0127485054688826	0.128
18	43248315	T	G	18	45668350	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.T1909G:p.S637A;SLC14A2:NM_007163:exon15:c.T1909G:p.S637A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T340G:p.S114A;ENSG00000132874:ENST00000255226:exon15:c.T1909G:p.S637A;ENSG00000132874:ENST00000586448:exon16:c.T1909G:p.S637A;	0.00864524242216155	0.078
18	43248440	T	A	18	45668475	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon16:c.T2034A:p.S678S;SLC14A2:NM_007163:exon15:c.T2034A:p.S678S;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T465A:p.S155S;ENSG00000132874:ENST00000255226:exon15:c.T2034A:p.S678S;ENSG00000132874:ENST00000586448:exon16:c.T2034A:p.S678S;	1.97633770255438E-5	0.0
18	43248440	T	C	18	45668475	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon16:c.T2034C:p.S678S;SLC14A2:NM_007163:exon15:c.T2034C:p.S678S;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T465C:p.S155S;ENSG00000132874:ENST00000255226:exon15:c.T2034C:p.S678S;ENSG00000132874:ENST00000586448:exon16:c.T2034C:p.S678S;	1.97633770255438E-5	0.002
18	43248440	T	G	18	45668475	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon16:c.T2034G:p.S678S;SLC14A2:NM_007163:exon15:c.T2034G:p.S678S;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T465G:p.S155S;ENSG00000132874:ENST00000255226:exon15:c.T2034G:p.S678S;ENSG00000132874:ENST00000586448:exon16:c.T2034G:p.S678S;	3.45273894691365E-5	0.022
18	43248441	T	A	18	45668476	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.T2035A:p.C679S;SLC14A2:NM_007163:exon15:c.T2035A:p.C679S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T466A:p.C156S;ENSG00000132874:ENST00000255226:exon15:c.T2035A:p.C679S;ENSG00000132874:ENST00000586448:exon16:c.T2035A:p.C679S;	0.0202710491931919	0.274
18	43248441	T	C	18	45668476	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.T2035C:p.C679R;SLC14A2:NM_007163:exon15:c.T2035C:p.C679R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T466C:p.C156R;ENSG00000132874:ENST00000255226:exon15:c.T2035C:p.C679R;ENSG00000132874:ENST00000586448:exon16:c.T2035C:p.C679R;	0.84731583208838	0.744
18	43248441	T	G	18	45668476	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.T2035G:p.C679G;SLC14A2:NM_007163:exon15:c.T2035G:p.C679G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.T466G:p.C156G;ENSG00000132874:ENST00000255226:exon15:c.T2035G:p.C679G;ENSG00000132874:ENST00000586448:exon16:c.T2035G:p.C679G;	0.558385739242541	0.708
18	43248442	G	A	18	45668477	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.G2036A:p.C679Y;SLC14A2:NM_007163:exon15:c.G2036A:p.C679Y;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.G467A:p.C156Y;ENSG00000132874:ENST00000255226:exon15:c.G2036A:p.C679Y;ENSG00000132874:ENST00000586448:exon16:c.G2036A:p.C679Y;	0.999885936291587	0.986
18	43248442	G	C	18	45668477	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.G2036C:p.C679S;SLC14A2:NM_007163:exon15:c.G2036C:p.C679S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.G467C:p.C156S;ENSG00000132874:ENST00000255226:exon15:c.G2036C:p.C679S;ENSG00000132874:ENST00000586448:exon16:c.G2036C:p.C679S;	0.999520854312553	0.86
18	43248442	G	T	18	45668477	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon16:c.G2036T:p.C679F;SLC14A2:NM_007163:exon15:c.G2036T:p.C679F;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon4:c.G467T:p.C156F;ENSG00000132874:ENST00000255226:exon15:c.G2036T:p.C679F;ENSG00000132874:ENST00000586448:exon16:c.G2036T:p.C679F;	0.999819688052436	0.876
18	43248443	G	A	18	45668478	y	y	splicing	SLC14A2(NM_001242692:exon16:c.2036+1G>A;NM_007163:exon15:c.2036+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.2036+1G>A;ENST00000255226:exon15:c.2036+1G>A;ENST00000589658:exon4:c.467+1G>A)	.	.	0.999986675681007	0.938
18	43248443	G	C	18	45668478	y	y	splicing	SLC14A2(NM_001242692:exon16:c.2036+1G>C;NM_007163:exon15:c.2036+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.2036+1G>C;ENST00000255226:exon15:c.2036+1G>C;ENST00000589658:exon4:c.467+1G>C)	.	.	0.999986675681007	0.936
18	43248443	G	T	18	45668478	y	y	splicing	SLC14A2(NM_001242692:exon16:c.2036+1G>T;NM_007163:exon15:c.2036+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.2036+1G>T;ENST00000255226:exon15:c.2036+1G>T;ENST00000589658:exon4:c.467+1G>T)	.	.	0.999986675681007	0.938
18	43248444	T	A	18	45668479	y	y	splicing	SLC14A2(NM_001242692:exon16:c.2036+2T>A;NM_007163:exon15:c.2036+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.2036+2T>A;ENST00000255226:exon15:c.2036+2T>A;ENST00000589658:exon4:c.467+2T>A)	.	.	0.999989917668626	0.924
18	43248444	T	C	18	45668479	y	y	splicing	SLC14A2(NM_001242692:exon16:c.2036+2T>C;NM_007163:exon15:c.2036+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.2036+2T>C;ENST00000255226:exon15:c.2036+2T>C;ENST00000589658:exon4:c.467+2T>C)	.	.	0.986528855787127	0.616
18	43248444	T	G	18	45668479	y	y	splicing	SLC14A2(NM_001242692:exon16:c.2036+2T>G;NM_007163:exon15:c.2036+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon16:c.2036+2T>G;ENST00000255226:exon15:c.2036+2T>G;ENST00000589658:exon4:c.467+2T>G)	.	.	0.999989917668626	0.924
18	43248445	A	C	18	45668480	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.913828085459464	0.552
18	43248445	A	G	18	45668480	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.77785871213559E-4	0.006
18	43248445	A	T	18	45668480	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.876845843013961	0.518
18	43248446	A	C	18	45668481	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.912230006141127	0.614
18	43248446	A	G	18	45668481	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.9714232790314	0.662
18	43248446	A	T	18	45668481	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.961396253793628	0.666
18	43248447	G	A	18	45668482	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.996608742617114	0.856
18	43248447	G	C	18	45668482	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.990417419122716	0.81
18	43248447	G	T	18	45668482	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998666860947834	0.782
18	43248448	T	A	18	45668483	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.466633344182694	0.356
18	43248448	T	C	18	45668483	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.680736487355317	0.336
18	43248448	T	G	18	45668483	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0868088905599909	0.264
18	43248449	T	A	18	45668484	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.64745399314608E-5	0.002
18	43248449	T	C	18	45668484	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.64745399314608E-5	0.0
18	43248449	T	G	18	45668484	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.69439264402225E-5	0.0
18	43248450	T	A	18	45668485	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	9.11159464097565E-5	0.0
18	43248450	T	C	18	45668485	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.87995666562217E-5	0.002
18	43248450	T	G	18	45668485	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.92669858441618E-5	0.0
18	43249259	T	A	18	45669294	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.4414540012634	0.564
18	43249259	T	C	18	45669294	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00476767816815906	0.108
18	43249259	T	G	18	45669294	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.175656217643206	0.488
18	43249260	T	A	18	45669295	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.914922557381314	0.622
18	43249260	T	C	18	45669295	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00139811694673346	0.15
18	43249260	T	G	18	45669295	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.803095913701152	0.558
18	43249261	C	A	18	45669296	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.0244570995225995	0.162
18	43249261	C	G	18	45669296	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00150413380870642	0.102
18	43249261	C	T	18	45669296	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	4.54478238863968E-5	0.03
18	43249262	T	A	18	45669297	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.999810356641974	0.968
18	43249262	T	C	18	45669297	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00117856711127118	0.042
18	43249262	T	G	18	45669297	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.832607170060801	0.556
18	43249263	G	A	18	45669298	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	3.00366696112936E-4	0.082
18	43249263	G	C	18	45669298	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	8.90793797884403E-5	0.024
18	43249263	G	T	18	45669298	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	7.94071583457583E-5	0.03
18	43249264	C	A	18	45669299	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.111331904207368	0.256
18	43249264	C	G	18	45669299	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.111331904207368	0.28
18	43249264	C	T	18	45669299	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.28304088346481E-4	0.008
18	43249265	C	A	18	45669300	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00603131892150578	0.258
18	43249265	C	G	18	45669300	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00401348751636102	0.238
18	43249265	C	T	18	45669300	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	5.04664016204396E-5	0.01
18	43249266	A	C	18	45669301	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.72574789847114E-5	0.002
18	43249266	A	G	18	45669301	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.34026408796233E-5	0.002
18	43249266	A	T	18	45669301	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.72574789847114E-5	0.01
18	43249267	T	A	18	45669302	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	6.01971229917512E-5	0.02
18	43249267	T	C	18	45669302	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	1.46161455684533E-4	0.028
18	43249267	T	G	18	45669302	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.169967619640699	0.558
18	43249268	C	A	18	45669303	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.980338152089557	0.822
18	43249268	C	G	18	45669303	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.998799429777193	0.862
18	43249268	C	T	18	45669303	y	y	intronic	SLC14A2	.	.	intronic	ENSG00000132874	.	.	0.00150791174095572	0.14
18	43249269	A	C	18	45669304	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2037-2A>C;NM_007163:exon16:c.2037-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2037-2A>C;ENST00000255226:exon16:c.2037-2A>C;ENST00000589658:exon5:c.468-2A>C)	.	.	0.999954785339841	0.914
18	43249269	A	G	18	45669304	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2037-2A>G;NM_007163:exon16:c.2037-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2037-2A>G;ENST00000255226:exon16:c.2037-2A>G;ENST00000589658:exon5:c.468-2A>G)	.	.	0.999954785339841	0.914
18	43249269	A	T	18	45669304	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2037-2A>T;NM_007163:exon16:c.2037-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2037-2A>T;ENST00000255226:exon16:c.2037-2A>T;ENST00000589658:exon5:c.468-2A>T)	.	.	0.999954785339841	0.908
18	43249270	G	A	18	45669305	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2037-1G>A;NM_007163:exon16:c.2037-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2037-1G>A;ENST00000255226:exon16:c.2037-1G>A;ENST00000589658:exon5:c.468-1G>A)	.	.	0.999973826449712	0.94
18	43249270	G	C	18	45669305	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2037-1G>C;NM_007163:exon16:c.2037-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2037-1G>C;ENST00000255226:exon16:c.2037-1G>C;ENST00000589658:exon5:c.468-1G>C)	.	.	0.999973826449712	0.938
18	43249270	G	T	18	45669305	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2037-1G>T;NM_007163:exon16:c.2037-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2037-1G>T;ENST00000255226:exon16:c.2037-1G>T;ENST00000589658:exon5:c.468-1G>T)	.	.	0.999973826449712	0.94
18	43249271	C	A	18	45669306	y	y	exonic	SLC14A2	stopgain SNV	SLC14A2:NM_001242692:exon17:c.C2037A:p.C679X;SLC14A2:NM_007163:exon16:c.C2037A:p.C679X;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000589658:exon5:c.C468A:p.C156X;ENSG00000132874:ENST00000255226:exon16:c.C2037A:p.C679X;ENSG00000132874:ENST00000586448:exon17:c.C2037A:p.C679X;	0.195205598254954	0.734
18	43249271	C	G	18	45669306	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.C2037G:p.C679W;SLC14A2:NM_007163:exon16:c.C2037G:p.C679W;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.C468G:p.C156W;ENSG00000132874:ENST00000255226:exon16:c.C2037G:p.C679W;ENSG00000132874:ENST00000586448:exon17:c.C2037G:p.C679W;	0.00156625256539811	0.152
18	43249271	C	T	18	45669306	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon17:c.C2037T:p.C679C;SLC14A2:NM_007163:exon16:c.C2037T:p.C679C;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.C468T:p.C156C;ENSG00000132874:ENST00000255226:exon16:c.C2037T:p.C679C;ENSG00000132874:ENST00000586448:exon17:c.C2037T:p.C679C;	0.00482639229427094	0.266
18	43249272	C	A	18	45669307	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.C2038A:p.P680T;SLC14A2:NM_007163:exon16:c.C2038A:p.P680T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.C469A:p.P157T;ENSG00000132874:ENST00000255226:exon16:c.C2038A:p.P680T;ENSG00000132874:ENST00000586448:exon17:c.C2038A:p.P680T;	0.0128212991952631	0.102
18	43249272	C	G	18	45669307	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.C2038G:p.P680A;SLC14A2:NM_007163:exon16:c.C2038G:p.P680A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.C469G:p.P157A;ENSG00000132874:ENST00000255226:exon16:c.C2038G:p.P680A;ENSG00000132874:ENST00000586448:exon17:c.C2038G:p.P680A;	0.639437146287636	0.622
18	43249272	C	T	18	45669307	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.C2038T:p.P680S;SLC14A2:NM_007163:exon16:c.C2038T:p.P680S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.C469T:p.P157S;ENSG00000132874:ENST00000255226:exon16:c.C2038T:p.P680S;ENSG00000132874:ENST00000586448:exon17:c.C2038T:p.P680S;	0.854370484490434	0.716
18	43249461	T	A	18	45669496	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.T2227A:p.L743M;SLC14A2:NM_007163:exon16:c.T2227A:p.L743M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.T658A:p.L220M;ENSG00000132874:ENST00000255226:exon16:c.T2227A:p.L743M;ENSG00000132874:ENST00000586448:exon17:c.T2227A:p.L743M;	1.42946348830995E-5	0.0
18	43249461	T	C	18	45669496	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon17:c.T2227C:p.L743L;SLC14A2:NM_007163:exon16:c.T2227C:p.L743L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.T658C:p.L220L;ENSG00000132874:ENST00000255226:exon16:c.T2227C:p.L743L;ENSG00000132874:ENST00000586448:exon17:c.T2227C:p.L743L;	1.34284278289794E-5	0.0
18	43249461	T	G	18	45669496	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.T2227G:p.L743V;SLC14A2:NM_007163:exon16:c.T2227G:p.L743V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.T658G:p.L220V;ENSG00000132874:ENST00000255226:exon16:c.T2227G:p.L743V;ENSG00000132874:ENST00000586448:exon17:c.T2227G:p.L743V;	3.42773427217776E-5	0.016
18	43249462	T	A	18	45669497	y	y	exonic	SLC14A2	stopgain SNV	SLC14A2:NM_001242692:exon17:c.T2228A:p.L743X;SLC14A2:NM_007163:exon16:c.T2228A:p.L743X;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000589658:exon5:c.T659A:p.L220X;ENSG00000132874:ENST00000255226:exon16:c.T2228A:p.L743X;ENSG00000132874:ENST00000586448:exon17:c.T2228A:p.L743X;	0.776440759584898	0.712
18	43249462	T	C	18	45669497	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.T2228C:p.L743S;SLC14A2:NM_007163:exon16:c.T2228C:p.L743S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.T659C:p.L220S;ENSG00000132874:ENST00000255226:exon16:c.T2228C:p.L743S;ENSG00000132874:ENST00000586448:exon17:c.T2228C:p.L743S;	0.00140031859428206	0.128
18	43249462	T	G	18	45669497	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.T2228G:p.L743W;SLC14A2:NM_007163:exon16:c.T2228G:p.L743W;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.T659G:p.L220W;ENSG00000132874:ENST00000255226:exon16:c.T2228G:p.L743W;ENSG00000132874:ENST00000586448:exon17:c.T2228G:p.L743W;	0.590187215465102	0.6
18	43249463	G	A	18	45669498	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon17:c.G2229A:p.L743L;SLC14A2:NM_007163:exon16:c.G2229A:p.L743L;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.G660A:p.L220L;ENSG00000132874:ENST00000255226:exon16:c.G2229A:p.L743L;ENSG00000132874:ENST00000586448:exon17:c.G2229A:p.L743L;	0.999942203239057	0.978
18	43249463	G	C	18	45669498	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.G2229C:p.L743F;SLC14A2:NM_007163:exon16:c.G2229C:p.L743F;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.G660C:p.L220F;ENSG00000132874:ENST00000255226:exon16:c.G2229C:p.L743F;ENSG00000132874:ENST00000586448:exon17:c.G2229C:p.L743F;	0.999979296766371	0.94
18	43249463	G	T	18	45669498	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon17:c.G2229T:p.L743F;SLC14A2:NM_007163:exon16:c.G2229T:p.L743F;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon5:c.G660T:p.L220F;ENSG00000132874:ENST00000255226:exon16:c.G2229T:p.L743F;ENSG00000132874:ENST00000586448:exon17:c.G2229T:p.L743F;	0.999958193551575	0.956
18	43249464	G	A	18	45669499	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2229+1G>A;NM_007163:exon16:c.2229+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2229+1G>A;ENST00000255226:exon16:c.2229+1G>A;ENST00000589658:exon5:c.660+1G>A)	.	.	0.99995586615188	0.942
18	43249464	G	C	18	45669499	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2229+1G>C;NM_007163:exon16:c.2229+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2229+1G>C;ENST00000255226:exon16:c.2229+1G>C;ENST00000589658:exon5:c.660+1G>C)	.	.	0.99995586615188	0.946
18	43249464	G	T	18	45669499	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2229+1G>T;NM_007163:exon16:c.2229+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2229+1G>T;ENST00000255226:exon16:c.2229+1G>T;ENST00000589658:exon5:c.660+1G>T)	.	.	0.99995586615188	0.948
18	43249465	T	A	18	45669500	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2229+2T>A;NM_007163:exon16:c.2229+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2229+2T>A;ENST00000255226:exon16:c.2229+2T>A;ENST00000589658:exon5:c.660+2T>A)	.	.	0.999946188727699	0.942
18	43249465	T	C	18	45669500	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2229+2T>C;NM_007163:exon16:c.2229+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2229+2T>C;ENST00000255226:exon16:c.2229+2T>C;ENST00000589658:exon5:c.660+2T>C)	.	.	0.95755789858141	0.616
18	43249465	T	G	18	45669500	y	y	splicing	SLC14A2(NM_001242692:exon17:c.2229+2T>G;NM_007163:exon16:c.2229+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon17:c.2229+2T>G;ENST00000255226:exon16:c.2229+2T>G;ENST00000589658:exon5:c.660+2T>G)	.	.	0.999946188727699	0.936
18	43249466	A	C	18	45669501	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999267599138922	0.854
18	43249466	A	G	18	45669501	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0834735761093571	0.27
18	43249466	A	T	18	45669501	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.986830794027235	0.838
18	43249467	C	A	18	45669502	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.68992612277946E-5	0.014
18	43249467	C	G	18	45669502	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.85227276630085E-5	0.046
18	43249467	C	T	18	45669502	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.47619271628648E-4	0.044
18	43249468	G	A	18	45669503	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999961308481032	0.91
18	43249468	G	C	18	45669503	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999983678769271	0.932
18	43249468	G	T	18	45669503	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999876905874977	0.82
18	43249469	T	A	18	45669504	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.410601283533221	0.464
18	43249469	T	C	18	45669504	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.147384125996562	0.378
18	43249469	T	G	18	45669504	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0198463636143495	0.352
18	43249470	A	C	18	45669505	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.54404724015672E-5	0.0
18	43249470	A	G	18	45669505	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.24450295635078E-5	0.0
18	43249470	A	T	18	45669505	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.78890319855431E-5	0.0
18	43249471	T	A	18	45669506	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.43864748889191E-5	0.0
18	43249471	T	C	18	45669506	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.0802893590191E-5	0.0
18	43249471	T	G	18	45669506	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.43864748889191E-5	0.0
18	43252853	T	A	18	45672888	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.198739575192078	0.416
18	43252853	T	C	18	45672888	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.94950180005898E-4	0.03
18	43252853	T	G	18	45672888	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.11838303173055	0.34
18	43252854	T	A	18	45672889	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.56758035895632	0.374
18	43252854	T	C	18	45672889	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00775546937271151	0.134
18	43252854	T	G	18	45672889	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.145284271599639	0.426
18	43252855	A	C	18	45672890	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.24635726499516E-5	0.004
18	43252855	A	G	18	45672890	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.1804861735776E-5	0.002
18	43252855	A	T	18	45672890	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.99877922188118E-5	0.008
18	43252856	T	A	18	45672891	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999111571611368	0.83
18	43252856	T	C	18	45672891	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.66444950234523E-4	0.016
18	43252856	T	G	18	45672891	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99774575887125	0.84
18	43252857	G	A	18	45672892	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.47834394789466E-4	0.086
18	43252857	G	C	18	45672892	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.42951236021517E-5	0.002
18	43252857	G	T	18	45672892	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.71148408388572E-5	0.0
18	43252858	C	A	18	45672893	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.313467639401052	0.224
18	43252858	C	G	18	45672893	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.128396367438918	0.172
18	43252858	C	T	18	45672893	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.56092382055067E-4	0.018
18	43252859	C	A	18	45672894	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.047967451918515	0.268
18	43252859	C	G	18	45672894	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0157767421073821	0.266
18	43252859	C	T	18	45672894	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.23288348598878E-4	0.016
18	43252860	T	A	18	45672895	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0319019262527711	0.27
18	43252860	T	C	18	45672895	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.44458457990044E-4	0.068
18	43252860	T	G	18	45672895	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0290389710671332	0.276
18	43252861	A	C	18	45672896	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.02475252678405E-4	0.064
18	43252861	A	G	18	45672896	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.01123922395604E-4	0.14
18	43252861	A	T	18	45672896	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.00226332238923E-4	0.004
18	43252862	C	A	18	45672897	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.884188700373574	0.692
18	43252862	C	G	18	45672897	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999588305050744	0.912
18	43252862	C	T	18	45672897	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00224597151689439	0.064
18	43252863	A	C	18	45672898	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2230-2A>C;NM_007163:exon17:c.2230-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2230-2A>C;ENST00000255226:exon17:c.2230-2A>C;ENST00000589658:exon6:c.661-2A>C)	.	.	0.999986741007567	0.938
18	43252863	A	G	18	45672898	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2230-2A>G;NM_007163:exon17:c.2230-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2230-2A>G;ENST00000255226:exon17:c.2230-2A>G;ENST00000589658:exon6:c.661-2A>G)	.	.	0.999986741007567	0.938
18	43252863	A	T	18	45672898	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2230-2A>T;NM_007163:exon17:c.2230-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2230-2A>T;ENST00000255226:exon17:c.2230-2A>T;ENST00000589658:exon6:c.661-2A>T)	.	.	0.999986741007567	0.938
18	43252864	G	A	18	45672899	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2230-1G>A;NM_007163:exon17:c.2230-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2230-1G>A;ENST00000255226:exon17:c.2230-1G>A;ENST00000589658:exon6:c.661-1G>A)	.	.	0.999987670894945	0.94
18	43252864	G	C	18	45672899	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2230-1G>C;NM_007163:exon17:c.2230-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2230-1G>C;ENST00000255226:exon17:c.2230-1G>C;ENST00000589658:exon6:c.661-1G>C)	.	.	0.999987670894945	0.94
18	43252864	G	T	18	45672899	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2230-1G>T;NM_007163:exon17:c.2230-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2230-1G>T;ENST00000255226:exon17:c.2230-1G>T;ENST00000589658:exon6:c.661-1G>T)	.	.	0.999987670894945	0.94
18	43252865	C	A	18	45672900	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.C2230A:p.L744I;SLC14A2:NM_007163:exon17:c.C2230A:p.L744I;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.C661A:p.L221I;ENSG00000132874:ENST00000255226:exon17:c.C2230A:p.L744I;ENSG00000132874:ENST00000586448:exon18:c.C2230A:p.L744I;	0.961280358234777	0.782
18	43252865	C	G	18	45672900	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.C2230G:p.L744V;SLC14A2:NM_007163:exon17:c.C2230G:p.L744V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.C661G:p.L221V;ENSG00000132874:ENST00000255226:exon17:c.C2230G:p.L744V;ENSG00000132874:ENST00000586448:exon18:c.C2230G:p.L744V;	0.966716159017661	0.628
18	43252865	C	T	18	45672900	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.C2230T:p.L744F;SLC14A2:NM_007163:exon17:c.C2230T:p.L744F;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.C661T:p.L221F;ENSG00000132874:ENST00000255226:exon17:c.C2230T:p.L744F;ENSG00000132874:ENST00000586448:exon18:c.C2230T:p.L744F;	0.996920163542033	0.878
18	43252866	T	A	18	45672901	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.T2231A:p.L744H;SLC14A2:NM_007163:exon17:c.T2231A:p.L744H;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.T662A:p.L221H;ENSG00000132874:ENST00000255226:exon17:c.T2231A:p.L744H;ENSG00000132874:ENST00000586448:exon18:c.T2231A:p.L744H;	0.897929259583804	0.408
18	43252866	T	C	18	45672901	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.T2231C:p.L744P;SLC14A2:NM_007163:exon17:c.T2231C:p.L744P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.T662C:p.L221P;ENSG00000132874:ENST00000255226:exon17:c.T2231C:p.L744P;ENSG00000132874:ENST00000586448:exon18:c.T2231C:p.L744P;	0.851667502030568	0.416
18	43252866	T	G	18	45672901	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.T2231G:p.L744R;SLC14A2:NM_007163:exon17:c.T2231G:p.L744R;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.T662G:p.L221R;ENSG00000132874:ENST00000255226:exon17:c.T2231G:p.L744R;ENSG00000132874:ENST00000586448:exon18:c.T2231G:p.L744R;	0.887603354267955	0.416
18	43253010	C	A	18	45673045	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.C2375A:p.A792E;SLC14A2:NM_007163:exon17:c.C2375A:p.A792E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.C806A:p.A269E;ENSG00000132874:ENST00000255226:exon17:c.C2375A:p.A792E;ENSG00000132874:ENST00000586448:exon18:c.C2375A:p.A792E;	0.951437852359738	0.81
18	43253010	C	G	18	45673045	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.C2375G:p.A792G;SLC14A2:NM_007163:exon17:c.C2375G:p.A792G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.C806G:p.A269G;ENSG00000132874:ENST00000255226:exon17:c.C2375G:p.A792G;ENSG00000132874:ENST00000586448:exon18:c.C2375G:p.A792G;	0.926136037148035	0.708
18	43253010	C	T	18	45673045	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.C2375T:p.A792V;SLC14A2:NM_007163:exon17:c.C2375T:p.A792V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.C806T:p.A269V;ENSG00000132874:ENST00000255226:exon17:c.C2375T:p.A792V;ENSG00000132874:ENST00000586448:exon18:c.C2375T:p.A792V;	0.999866357561276	0.986
18	43253011	A	C	18	45673046	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon18:c.A2376C:p.A792A;SLC14A2:NM_007163:exon17:c.A2376C:p.A792A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.A807C:p.A269A;ENSG00000132874:ENST00000255226:exon17:c.A2376C:p.A792A;ENSG00000132874:ENST00000586448:exon18:c.A2376C:p.A792A;	0.998994008189683	0.978
18	43253011	A	G	18	45673046	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon18:c.A2376G:p.A792A;SLC14A2:NM_007163:exon17:c.A2376G:p.A792A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.A807G:p.A269A;ENSG00000132874:ENST00000255226:exon17:c.A2376G:p.A792A;ENSG00000132874:ENST00000586448:exon18:c.A2376G:p.A792A;	0.999292297229214	0.972
18	43253011	A	T	18	45673046	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon18:c.A2376T:p.A792A;SLC14A2:NM_007163:exon17:c.A2376T:p.A792A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.A807T:p.A269A;ENSG00000132874:ENST00000255226:exon17:c.A2376T:p.A792A;ENSG00000132874:ENST00000586448:exon18:c.A2376T:p.A792A;	0.999253867840358	0.976
18	43253012	G	A	18	45673047	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.G2377A:p.A793T;SLC14A2:NM_007163:exon17:c.G2377A:p.A793T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.G808A:p.A270T;ENSG00000132874:ENST00000255226:exon17:c.G2377A:p.A793T;ENSG00000132874:ENST00000586448:exon18:c.G2377A:p.A793T;	0.999995897637476	1.0
18	43253012	G	C	18	45673047	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.G2377C:p.A793P;SLC14A2:NM_007163:exon17:c.G2377C:p.A793P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.G808C:p.A270P;ENSG00000132874:ENST00000255226:exon17:c.G2377C:p.A793P;ENSG00000132874:ENST00000586448:exon18:c.G2377C:p.A793P;	0.999997328761559	1.0
18	43253012	G	T	18	45673047	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon18:c.G2377T:p.A793S;SLC14A2:NM_007163:exon17:c.G2377T:p.A793S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon6:c.G808T:p.A270S;ENSG00000132874:ENST00000255226:exon17:c.G2377T:p.A793S;ENSG00000132874:ENST00000586448:exon18:c.G2377T:p.A793S;	0.999991026385147	1.0
18	43253013	G	A	18	45673048	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2377+1G>A;NM_007163:exon17:c.2377+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2377+1G>A;ENST00000255226:exon17:c.2377+1G>A;ENST00000589658:exon6:c.808+1G>A)	.	.	0.999989072007339	0.95
18	43253013	G	C	18	45673048	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2377+1G>C;NM_007163:exon17:c.2377+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2377+1G>C;ENST00000255226:exon17:c.2377+1G>C;ENST00000589658:exon6:c.808+1G>C)	.	.	0.999989072007339	0.95
18	43253013	G	T	18	45673048	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2377+1G>T;NM_007163:exon17:c.2377+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2377+1G>T;ENST00000255226:exon17:c.2377+1G>T;ENST00000589658:exon6:c.808+1G>T)	.	.	0.999989072007339	0.95
18	43253014	T	A	18	45673049	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2377+2T>A;NM_007163:exon17:c.2377+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2377+2T>A;ENST00000255226:exon17:c.2377+2T>A;ENST00000589658:exon6:c.808+2T>A)	.	.	0.999988247793601	0.946
18	43253014	T	C	18	45673049	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2377+2T>C;NM_007163:exon17:c.2377+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2377+2T>C;ENST00000255226:exon17:c.2377+2T>C;ENST00000589658:exon6:c.808+2T>C)	.	.	0.992054276455321	0.66
18	43253014	T	G	18	45673049	y	y	splicing	SLC14A2(NM_001242692:exon18:c.2377+2T>G;NM_007163:exon17:c.2377+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon18:c.2377+2T>G;ENST00000255226:exon17:c.2377+2T>G;ENST00000589658:exon6:c.808+2T>G)	.	.	0.999988247793601	0.946
18	43253015	C	A	18	45673050	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.87417803628399E-4	0.06
18	43253015	C	G	18	45673050	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.55709554435823E-5	0.064
18	43253015	C	T	18	45673050	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.50802369139563E-4	0.004
18	43253016	T	A	18	45673051	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0010050422961407	0.086
18	43253016	T	C	18	45673051	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00220962544751167	0.108
18	43253016	T	G	18	45673051	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.22563128736247E-4	0.0
18	43253017	G	A	18	45673052	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999966011670193	0.984
18	43253017	G	C	18	45673052	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999986945249741	0.998
18	43253017	G	T	18	45673052	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999973552310746	0.974
18	43253018	T	A	18	45673053	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.708685801049716	0.474
18	43253018	T	C	18	45673053	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.59837148578621	0.414
18	43253018	T	G	18	45673053	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.239266342837555	0.476
18	43253019	G	A	18	45673054	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00184352698129411	0.042
18	43253019	G	C	18	45673054	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00149653174265091	0.026
18	43253019	G	T	18	45673054	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00184352698129411	0.044
18	43253020	T	A	18	45673055	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.86378012933829E-4	0.01
18	43253020	T	C	18	45673055	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.34086113747366E-5	0.014
18	43253020	T	G	18	45673055	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.01762389349499E-4	0.024
18	43253636	C	A	18	45673671	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0214350068432882	0.114
18	43253636	C	G	18	45673671	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00442129155575483	0.1
18	43253636	C	T	18	45673671	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.40364954146036E-4	0.0
18	43253637	T	A	18	45673672	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.026295646229158	0.542
18	43253637	T	C	18	45673672	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.83425275824828E-4	0.216
18	43253637	T	G	18	45673672	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.115927845443136	0.542
18	43253638	T	A	18	45673673	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.783474285675296	0.704
18	43253638	T	C	18	45673673	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00592928603372438	0.134
18	43253638	T	G	18	45673673	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.673231839492428	0.712
18	43253639	C	A	18	45673674	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00391496873118405	0.058
18	43253639	C	G	18	45673674	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00803612472504326	0.074
18	43253639	C	T	18	45673674	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.15338358959704E-4	0.004
18	43253640	T	A	18	45673675	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99997431835907	0.99
18	43253640	T	C	18	45673675	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.34829274781184E-5	0.002
18	43253640	T	G	18	45673675	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00138959466196567	0.094
18	43253641	G	A	18	45673676	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.66957772468273E-5	0.0
18	43253641	G	C	18	45673676	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.14638136709833E-6	0.002
18	43253641	G	T	18	45673676	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.18316080708942E-6	0.002
18	43253642	T	A	18	45673677	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0145232849937403	0.142
18	43253642	T	C	18	45673677	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.92292260444399E-4	0.036
18	43253642	T	G	18	45673677	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0162475525211852	0.14
18	43253643	C	A	18	45673678	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00331685665276568	0.106
18	43253643	C	G	18	45673678	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.08591637615988E-4	0.072
18	43253643	C	T	18	45673678	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.6841346663145E-5	0.006
18	43253644	A	C	18	45673679	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.6361822931228E-5	0.012
18	43253644	A	G	18	45673679	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.57668480189039E-5	0.0
18	43253644	A	T	18	45673679	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.94625791386142E-5	0.002
18	43253645	C	A	18	45673680	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.998640960616826	0.882
18	43253645	C	G	18	45673680	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999479457165034	0.794
18	43253645	C	T	18	45673680	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.045984964364845	0.184
18	43253646	A	C	18	45673681	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2378-2A>C;NM_007163:exon18:c.2378-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2378-2A>C;ENST00000255226:exon18:c.2378-2A>C;ENST00000589658:exon7:c.809-2A>C)	.	.	0.99994568797423	0.96
18	43253646	A	G	18	45673681	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2378-2A>G;NM_007163:exon18:c.2378-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2378-2A>G;ENST00000255226:exon18:c.2378-2A>G;ENST00000589658:exon7:c.809-2A>G)	.	.	0.99994568797423	0.96
18	43253646	A	T	18	45673681	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2378-2A>T;NM_007163:exon18:c.2378-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2378-2A>T;ENST00000255226:exon18:c.2378-2A>T;ENST00000589658:exon7:c.809-2A>T)	.	.	0.99994568797423	0.952
18	43253647	G	A	18	45673682	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2378-1G>A;NM_007163:exon18:c.2378-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2378-1G>A;ENST00000255226:exon18:c.2378-1G>A;ENST00000589658:exon7:c.809-1G>A)	.	.	0.999949496871441	0.938
18	43253647	G	C	18	45673682	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2378-1G>C;NM_007163:exon18:c.2378-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2378-1G>C;ENST00000255226:exon18:c.2378-1G>C;ENST00000589658:exon7:c.809-1G>C)	.	.	0.999949496871441	0.946
18	43253647	G	T	18	45673682	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2378-1G>T;NM_007163:exon18:c.2378-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2378-1G>T;ENST00000255226:exon18:c.2378-1G>T;ENST00000589658:exon7:c.809-1G>T)	.	.	0.999949496871441	0.94
18	43253648	C	A	18	45673683	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.C2378A:p.A793E;SLC14A2:NM_007163:exon18:c.C2378A:p.A793E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.C809A:p.A270E;ENSG00000132874:ENST00000255226:exon18:c.C2378A:p.A793E;ENSG00000132874:ENST00000586448:exon19:c.C2378A:p.A793E;	0.201243754629359	0.376
18	43253648	C	G	18	45673683	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.C2378G:p.A793G;SLC14A2:NM_007163:exon18:c.C2378G:p.A793G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.C809G:p.A270G;ENSG00000132874:ENST00000255226:exon18:c.C2378G:p.A793G;ENSG00000132874:ENST00000586448:exon19:c.C2378G:p.A793G;	2.215399524568E-4	0.192
18	43253648	C	T	18	45673683	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.C2378T:p.A793V;SLC14A2:NM_007163:exon18:c.C2378T:p.A793V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.C809T:p.A270V;ENSG00000132874:ENST00000255226:exon18:c.C2378T:p.A793V;ENSG00000132874:ENST00000586448:exon19:c.C2378T:p.A793V;	0.892338101248105	0.636
18	43253649	A	C	18	45673684	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon19:c.A2379C:p.A793A;SLC14A2:NM_007163:exon18:c.A2379C:p.A793A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.A810C:p.A270A;ENSG00000132874:ENST00000255226:exon18:c.A2379C:p.A793A;ENSG00000132874:ENST00000586448:exon19:c.A2379C:p.A793A;	3.50991320723169E-5	0.002
18	43253649	A	G	18	45673684	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon19:c.A2379G:p.A793A;SLC14A2:NM_007163:exon18:c.A2379G:p.A793A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.A810G:p.A270A;ENSG00000132874:ENST00000255226:exon18:c.A2379G:p.A793A;ENSG00000132874:ENST00000586448:exon19:c.A2379G:p.A793A;	2.74986346685018E-5	0.014
18	43253649	A	T	18	45673684	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon19:c.A2379T:p.A793A;SLC14A2:NM_007163:exon18:c.A2379T:p.A793A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.A810T:p.A270A;ENSG00000132874:ENST00000255226:exon18:c.A2379T:p.A793A;ENSG00000132874:ENST00000586448:exon19:c.A2379T:p.A793A;	9.60424513055854E-6	0.0
18	43253780	G	A	18	45673815	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.G2510A:p.C837Y;SLC14A2:NM_007163:exon18:c.G2510A:p.C837Y;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.G941A:p.C314Y;ENSG00000132874:ENST00000255226:exon18:c.G2510A:p.C837Y;ENSG00000132874:ENST00000586448:exon19:c.G2510A:p.C837Y;	0.949814532875941	0.79
18	43253780	G	C	18	45673815	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.G2510C:p.C837S;SLC14A2:NM_007163:exon18:c.G2510C:p.C837S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.G941C:p.C314S;ENSG00000132874:ENST00000255226:exon18:c.G2510C:p.C837S;ENSG00000132874:ENST00000586448:exon19:c.G2510C:p.C837S;	0.949814532875941	0.802
18	43253780	G	T	18	45673815	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.G2510T:p.C837F;SLC14A2:NM_007163:exon18:c.G2510T:p.C837F;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.G941T:p.C314F;ENSG00000132874:ENST00000255226:exon18:c.G2510T:p.C837F;ENSG00000132874:ENST00000586448:exon19:c.G2510T:p.C837F;	0.987743889361395	0.902
18	43253781	C	A	18	45673816	y	y	exonic	SLC14A2	stopgain SNV	SLC14A2:NM_001242692:exon19:c.C2511A:p.C837X;SLC14A2:NM_007163:exon18:c.C2511A:p.C837X;	exonic	ENSG00000132874	stopgain SNV	ENSG00000132874:ENST00000589658:exon7:c.C942A:p.C314X;ENSG00000132874:ENST00000255226:exon18:c.C2511A:p.C837X;ENSG00000132874:ENST00000586448:exon19:c.C2511A:p.C837X;	1.34408561440616E-4	0.356
18	43253781	C	G	18	45673816	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.C2511G:p.C837W;SLC14A2:NM_007163:exon18:c.C2511G:p.C837W;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.C942G:p.C314W;ENSG00000132874:ENST00000255226:exon18:c.C2511G:p.C837W;ENSG00000132874:ENST00000586448:exon19:c.C2511G:p.C837W;	5.42972696212998E-4	0.144
18	43253781	C	T	18	45673816	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon19:c.C2511T:p.C837C;SLC14A2:NM_007163:exon18:c.C2511T:p.C837C;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.C942T:p.C314C;ENSG00000132874:ENST00000255226:exon18:c.C2511T:p.C837C;ENSG00000132874:ENST00000586448:exon19:c.C2511T:p.C837C;	7.71787782003523E-4	0.036
18	43253782	G	A	18	45673817	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.G2512A:p.A838T;SLC14A2:NM_007163:exon18:c.G2512A:p.A838T;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.G943A:p.A315T;ENSG00000132874:ENST00000255226:exon18:c.G2512A:p.A838T;ENSG00000132874:ENST00000586448:exon19:c.G2512A:p.A838T;	0.999990528570879	0.996
18	43253782	G	C	18	45673817	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.G2512C:p.A838P;SLC14A2:NM_007163:exon18:c.G2512C:p.A838P;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.G943C:p.A315P;ENSG00000132874:ENST00000255226:exon18:c.G2512C:p.A838P;ENSG00000132874:ENST00000586448:exon19:c.G2512C:p.A838P;	0.999992990504727	0.976
18	43253782	G	T	18	45673817	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon19:c.G2512T:p.A838S;SLC14A2:NM_007163:exon18:c.G2512T:p.A838S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon7:c.G943T:p.A315S;ENSG00000132874:ENST00000255226:exon18:c.G2512T:p.A838S;ENSG00000132874:ENST00000586448:exon19:c.G2512T:p.A838S;	0.999983591085172	0.956
18	43253783	G	A	18	45673818	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2512+1G>A;NM_007163:exon18:c.2512+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2512+1G>A;ENST00000255226:exon18:c.2512+1G>A;ENST00000589658:exon7:c.943+1G>A)	.	.	0.999989072007339	0.934
18	43253783	G	C	18	45673818	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2512+1G>C;NM_007163:exon18:c.2512+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2512+1G>C;ENST00000255226:exon18:c.2512+1G>C;ENST00000589658:exon7:c.943+1G>C)	.	.	0.999989072007339	0.934
18	43253783	G	T	18	45673818	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2512+1G>T;NM_007163:exon18:c.2512+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2512+1G>T;ENST00000255226:exon18:c.2512+1G>T;ENST00000589658:exon7:c.943+1G>T)	.	.	0.999989072007339	0.934
18	43253784	T	A	18	45673819	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2512+2T>A;NM_007163:exon18:c.2512+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2512+2T>A;ENST00000255226:exon18:c.2512+2T>A;ENST00000589658:exon7:c.943+2T>A)	.	.	0.999988247793601	0.93
18	43253784	T	C	18	45673819	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2512+2T>C;NM_007163:exon18:c.2512+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2512+2T>C;ENST00000255226:exon18:c.2512+2T>C;ENST00000589658:exon7:c.943+2T>C)	.	.	0.992054276455321	0.664
18	43253784	T	G	18	45673819	y	y	splicing	SLC14A2(NM_001242692:exon19:c.2512+2T>G;NM_007163:exon18:c.2512+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon19:c.2512+2T>G;ENST00000255226:exon18:c.2512+2T>G;ENST00000589658:exon7:c.943+2T>G)	.	.	0.999988247793601	0.93
18	43253785	A	C	18	45673820	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.987427052891546	0.786
18	43253785	A	G	18	45673820	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.510558394254396	0.762
18	43253785	A	T	18	45673820	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.994314178524116	0.844
18	43253786	G	A	18	45673821	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.2874014901997E-4	0.038
18	43253786	G	C	18	45673821	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.06528140112087E-4	0.174
18	43253786	G	T	18	45673821	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.11872263002178E-4	0.016
18	43253787	G	A	18	45673822	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999927489918801	0.972
18	43253787	G	C	18	45673822	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999987685107498	0.916
18	43253787	G	T	18	45673822	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999984116446747	0.948
18	43253788	T	A	18	45673823	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.161997940682961	0.362
18	43253788	T	C	18	45673823	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.148668625582987	0.246
18	43253788	T	G	18	45673823	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.159821733041669	0.4
18	43253789	A	C	18	45673824	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.71240425194641E-5	0.042
18	43253789	A	G	18	45673824	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.39489335065929E-4	0.004
18	43253789	A	T	18	45673824	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.05381567206191E-4	0.002
18	43253790	C	A	18	45673825	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.88137373884486E-4	0.032
18	43253790	C	G	18	45673825	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.85968705035802E-4	0.06
18	43253790	C	T	18	45673825	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.35458017459136E-4	0.022
18	43258928	T	A	18	45678963	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.74830891420938E-5	0.034
18	43258928	T	C	18	45678963	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.69873438708164E-5	0.008
18	43258928	T	G	18	45678963	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.3479229140598E-5	0.066
18	43258929	T	A	18	45678964	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00161977721904392	0.302
18	43258929	T	C	18	45678964	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0015583454335413	0.094
18	43258929	T	G	18	45678964	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00211782853798221	0.284
18	43258930	T	A	18	45678965	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.86293907778604E-5	0.022
18	43258930	T	C	18	45678965	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.55276650050199E-5	0.002
18	43258930	T	G	18	45678965	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.16564919362079E-5	0.06
18	43258931	T	A	18	45678966	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.29216509304539E-5	0.046
18	43258931	T	C	18	45678966	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.30557995545573E-5	0.006
18	43258931	T	G	18	45678966	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.37367981789922E-5	0.068
18	43258932	T	A	18	45678967	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	9.70413789941873E-5	0.036
18	43258932	T	C	18	45678967	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.51989678035623E-5	0.002
18	43258932	T	G	18	45678967	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.90715711669232E-5	0.034
18	43258933	T	A	18	45678968	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.71900014338384E-5	0.03
18	43258933	T	C	18	45678968	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.70770060781648E-5	0.0
18	43258933	T	G	18	45678968	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.68294048378224E-5	0.04
18	43258934	T	A	18	45678969	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00119069380108937	0.17
18	43258934	T	C	18	45678969	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.4859360660356E-4	0.024
18	43258934	T	G	18	45678969	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00171893536057442	0.136
18	43258935	T	A	18	45678970	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.03888367091444E-4	0.094
18	43258935	T	C	18	45678970	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.50753537290089E-4	0.008
18	43258935	T	G	18	45678970	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00141351566723358	0.136
18	43258936	C	A	18	45678971	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.21927469035978E-5	0.012
18	43258936	C	G	18	45678971	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.19790346448126E-5	0.004
18	43258936	C	T	18	45678971	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.91322441857876E-5	0.004
18	43258937	T	A	18	45678972	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00253349441009164	0.108
18	43258937	T	C	18	45678972	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.94317990558343E-5	0.002
18	43258937	T	G	18	45678972	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.206965784919468	0.458
18	43258938	A	C	18	45678973	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2513-2A>C;NM_007163:exon19:c.2513-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2513-2A>C;ENST00000255226:exon19:c.2513-2A>C;ENST00000589658:exon8:c.944-2A>C)	.	.	0.999978952611685	0.932
18	43258938	A	G	18	45678973	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2513-2A>G;NM_007163:exon19:c.2513-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2513-2A>G;ENST00000255226:exon19:c.2513-2A>G;ENST00000589658:exon8:c.944-2A>G)	.	.	0.999978952611685	0.932
18	43258938	A	T	18	45678973	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2513-2A>T;NM_007163:exon19:c.2513-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2513-2A>T;ENST00000255226:exon19:c.2513-2A>T;ENST00000589658:exon8:c.944-2A>T)	.	.	0.999988247793601	0.93
18	43258939	G	A	18	45678974	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2513-1G>A;NM_007163:exon19:c.2513-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2513-1G>A;ENST00000255226:exon19:c.2513-1G>A;ENST00000589658:exon8:c.944-1G>A)	.	.	0.999990361384395	0.938
18	43258939	G	C	18	45678974	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2513-1G>C;NM_007163:exon19:c.2513-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2513-1G>C;ENST00000255226:exon19:c.2513-1G>C;ENST00000589658:exon8:c.944-1G>C)	.	.	0.999990361384395	0.938
18	43258939	G	T	18	45678974	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2513-1G>T;NM_007163:exon19:c.2513-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2513-1G>T;ENST00000255226:exon19:c.2513-1G>T;ENST00000589658:exon8:c.944-1G>T)	.	.	0.999990361384395	0.938
18	43258940	C	A	18	45678975	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.C2513A:p.A838E;SLC14A2:NM_007163:exon19:c.C2513A:p.A838E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.C944A:p.A315E;ENSG00000132874:ENST00000255226:exon19:c.C2513A:p.A838E;ENSG00000132874:ENST00000586448:exon20:c.C2513A:p.A838E;	0.970525191033447	0.752
18	43258940	C	G	18	45678975	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.C2513G:p.A838G;SLC14A2:NM_007163:exon19:c.C2513G:p.A838G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.C944G:p.A315G;ENSG00000132874:ENST00000255226:exon19:c.C2513G:p.A838G;ENSG00000132874:ENST00000586448:exon20:c.C2513G:p.A838G;	0.704703140724011	0.51
18	43258940	C	T	18	45678975	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.C2513T:p.A838V;SLC14A2:NM_007163:exon19:c.C2513T:p.A838V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.C944T:p.A315V;ENSG00000132874:ENST00000255226:exon19:c.C2513T:p.A838V;ENSG00000132874:ENST00000586448:exon20:c.C2513T:p.A838V;	0.989800438992922	0.844
18	43258941	A	C	18	45678976	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon20:c.A2514C:p.A838A;SLC14A2:NM_007163:exon19:c.A2514C:p.A838A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.A945C:p.A315A;ENSG00000132874:ENST00000255226:exon19:c.A2514C:p.A838A;ENSG00000132874:ENST00000586448:exon20:c.A2514C:p.A838A;	1.02929008764138E-4	0.0
18	43258941	A	G	18	45678976	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon20:c.A2514G:p.A838A;SLC14A2:NM_007163:exon19:c.A2514G:p.A838A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.A945G:p.A315A;ENSG00000132874:ENST00000255226:exon19:c.A2514G:p.A838A;ENSG00000132874:ENST00000586448:exon20:c.A2514G:p.A838A;	7.71870505101279E-5	0.008
18	43258941	A	T	18	45678976	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon20:c.A2514T:p.A838A;SLC14A2:NM_007163:exon19:c.A2514T:p.A838A;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.A945T:p.A315A;ENSG00000132874:ENST00000255226:exon19:c.A2514T:p.A838A;ENSG00000132874:ENST00000586448:exon20:c.A2514T:p.A838A;	4.39838764502043E-5	0.002
18	43258987	G	A	18	45679022	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.G2560A:p.V854M;SLC14A2:NM_007163:exon19:c.G2560A:p.V854M;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.G991A:p.V331M;ENSG00000132874:ENST00000255226:exon19:c.G2560A:p.V854M;ENSG00000132874:ENST00000586448:exon20:c.G2560A:p.V854M;	0.00428860332266009	0.05
18	43258987	G	C	18	45679022	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.G2560C:p.V854L;SLC14A2:NM_007163:exon19:c.G2560C:p.V854L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.G991C:p.V331L;ENSG00000132874:ENST00000255226:exon19:c.G2560C:p.V854L;ENSG00000132874:ENST00000586448:exon20:c.G2560C:p.V854L;	0.950237228146541	0.632
18	43258987	G	T	18	45679022	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.G2560T:p.V854L;SLC14A2:NM_007163:exon19:c.G2560T:p.V854L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.G991T:p.V331L;ENSG00000132874:ENST00000255226:exon19:c.G2560T:p.V854L;ENSG00000132874:ENST00000586448:exon20:c.G2560T:p.V854L;	0.992422199504478	0.852
18	43258988	T	A	18	45679023	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.T2561A:p.V854E;SLC14A2:NM_007163:exon19:c.T2561A:p.V854E;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.T992A:p.V331E;ENSG00000132874:ENST00000255226:exon19:c.T2561A:p.V854E;ENSG00000132874:ENST00000586448:exon20:c.T2561A:p.V854E;	0.00233051833702019	0.076
18	43258988	T	C	18	45679023	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.T2561C:p.V854A;SLC14A2:NM_007163:exon19:c.T2561C:p.V854A;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.T992C:p.V331A;ENSG00000132874:ENST00000255226:exon19:c.T2561C:p.V854A;ENSG00000132874:ENST00000586448:exon20:c.T2561C:p.V854A;	0.0333744294057498	0.176
18	43258988	T	G	18	45679023	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon20:c.T2561G:p.V854G;SLC14A2:NM_007163:exon19:c.T2561G:p.V854G;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.T992G:p.V331G;ENSG00000132874:ENST00000255226:exon19:c.T2561G:p.V854G;ENSG00000132874:ENST00000586448:exon20:c.T2561G:p.V854G;	0.046278212313304	0.272
18	43258989	G	A	18	45679024	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon20:c.G2562A:p.V854V;SLC14A2:NM_007163:exon19:c.G2562A:p.V854V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.G993A:p.V331V;ENSG00000132874:ENST00000255226:exon19:c.G2562A:p.V854V;ENSG00000132874:ENST00000586448:exon20:c.G2562A:p.V854V;	0.999906653182476	0.974
18	43258989	G	C	18	45679024	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon20:c.G2562C:p.V854V;SLC14A2:NM_007163:exon19:c.G2562C:p.V854V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.G993C:p.V331V;ENSG00000132874:ENST00000255226:exon19:c.G2562C:p.V854V;ENSG00000132874:ENST00000586448:exon20:c.G2562C:p.V854V;	0.999543952476708	0.724
18	43258989	G	T	18	45679024	y	y	exonic	SLC14A2	synonymous SNV	SLC14A2:NM_001242692:exon20:c.G2562T:p.V854V;SLC14A2:NM_007163:exon19:c.G2562T:p.V854V;	exonic	ENSG00000132874	synonymous SNV	ENSG00000132874:ENST00000589658:exon8:c.G993T:p.V331V;ENSG00000132874:ENST00000255226:exon19:c.G2562T:p.V854V;ENSG00000132874:ENST00000586448:exon20:c.G2562T:p.V854V;	0.999832911496554	0.822
18	43258990	G	A	18	45679025	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2562+1G>A;NM_007163:exon19:c.2562+1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2562+1G>A;ENST00000255226:exon19:c.2562+1G>A;ENST00000589658:exon8:c.993+1G>A)	.	.	0.999990361384395	0.936
18	43258990	G	C	18	45679025	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2562+1G>C;NM_007163:exon19:c.2562+1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2562+1G>C;ENST00000255226:exon19:c.2562+1G>C;ENST00000589658:exon8:c.993+1G>C)	.	.	0.999990361384395	0.936
18	43258990	G	T	18	45679025	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2562+1G>T;NM_007163:exon19:c.2562+1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2562+1G>T;ENST00000255226:exon19:c.2562+1G>T;ENST00000589658:exon8:c.993+1G>T)	.	.	0.999990361384395	0.936
18	43258991	T	A	18	45679026	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2562+2T>A;NM_007163:exon19:c.2562+2T>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2562+2T>A;ENST00000255226:exon19:c.2562+2T>A;ENST00000589658:exon8:c.993+2T>A)	.	.	0.999988247793601	0.93
18	43258991	T	C	18	45679026	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2562+2T>C;NM_007163:exon19:c.2562+2T>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2562+2T>C;ENST00000255226:exon19:c.2562+2T>C;ENST00000589658:exon8:c.993+2T>C)	.	.	0.999929727175276	0.866
18	43258991	T	G	18	45679026	y	y	splicing	SLC14A2(NM_001242692:exon20:c.2562+2T>G;NM_007163:exon19:c.2562+2T>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon20:c.2562+2T>G;ENST00000255226:exon19:c.2562+2T>G;ENST00000589658:exon8:c.993+2T>G)	.	.	0.999988247793601	0.93
18	43258992	G	A	18	45679027	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.52285631485998E-5	0.004
18	43258992	G	C	18	45679027	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.800770110079741	0.502
18	43258992	G	T	18	45679027	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.826877583101266	0.474
18	43258993	A	C	18	45679028	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.978933242305701	0.754
18	43258993	A	G	18	45679028	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99138778656575	0.656
18	43258993	A	T	18	45679028	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.993817964238927	0.778
18	43258994	G	A	18	45679029	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999949726157569	0.97
18	43258994	G	C	18	45679029	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999975698315537	0.902
18	43258994	G	T	18	45679029	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999983802331252	0.97
18	43258995	T	A	18	45679030	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.990927954178728	0.666
18	43258995	T	C	18	45679030	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.500484405476153	0.52
18	43258995	T	G	18	45679030	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.667676520412662	0.552
18	43258996	C	A	18	45679031	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.0137201333722E-4	0.002
18	43258996	C	G	18	45679031	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.34995841846762E-4	0.0
18	43258996	C	T	18	45679031	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.78077303746162E-4	0.006
18	43258997	A	C	18	45679032	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.44454674516076E-5	0.0
18	43258997	A	G	18	45679032	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.45166881115081E-5	0.0
18	43258997	A	T	18	45679032	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.44454674516076E-5	0.0
18	43262272	C	A	18	45682307	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00226972803917433	0.132
18	43262272	C	G	18	45682307	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.37387323762711E-4	0.024
18	43262272	C	T	18	45682307	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.26233155966305E-5	0.002
18	43262273	T	A	18	45682308	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.94632172157791E-4	0.06
18	43262273	T	C	18	45682308	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.91181541876066E-5	0.0
18	43262273	T	G	18	45682308	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.15944244446336E-4	0.028
18	43262274	T	A	18	45682309	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.26014018661333E-4	0.066
18	43262274	T	C	18	45682309	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.17743949768167E-4	0.0
18	43262274	T	G	18	45682309	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.83935742656671E-4	0.084
18	43262275	T	A	18	45682310	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.32352924605474E-4	0.062
18	43262275	T	C	18	45682310	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.51855089445169E-5	0.0
18	43262275	T	G	18	45682310	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.668517741019E-4	0.05
18	43262276	C	A	18	45682311	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.02342687995387E-5	0.034
18	43262276	C	G	18	45682311	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.22102369504701E-5	0.05
18	43262276	C	T	18	45682311	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.38185160416212E-5	0.0
18	43262277	T	A	18	45682312	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.10130819846389E-4	0.222
18	43262277	T	C	18	45682312	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.22508665389507E-5	0.0
18	43262277	T	G	18	45682312	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.31638366945405E-4	0.07
18	43262278	C	A	18	45682313	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0018147823316715	0.092
18	43262278	C	G	18	45682313	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00278602564430533	0.1
18	43262278	C	T	18	45682313	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.91227022901026E-5	0.0
18	43262279	T	A	18	45682314	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.25864574625347E-4	0.06
18	43262279	T	C	18	45682314	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.86946186845909E-5	0.004
18	43262279	T	G	18	45682314	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.3946287734447E-4	0.054
18	43262280	C	A	18	45682315	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.13545327611362E-5	0.0
18	43262280	C	G	18	45682315	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.53243521736724E-5	0.0
18	43262280	C	T	18	45682315	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.13545327611362E-5	0.0
18	43262281	C	A	18	45682316	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.363853936798605	0.472
18	43262281	C	G	18	45682316	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999750388745649	0.98
18	43262281	C	T	18	45682316	y	y	intronic	SLC14A2	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00116320102172153	0.022
18	43262282	A	C	18	45682317	y	y	splicing	SLC14A2(NM_001242692:exon21:c.2563-2A>C;NM_007163:exon20:c.2563-2A>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon21:c.2563-2A>C;ENST00000255226:exon20:c.2563-2A>C;ENST00000589658:exon9:c.994-2A>C)	.	.	0.999989917668626	0.924
18	43262282	A	G	18	45682317	y	y	splicing	SLC14A2(NM_001242692:exon21:c.2563-2A>G;NM_007163:exon20:c.2563-2A>G)	.	.	splicing	ENSG00000132874(ENST00000586448:exon21:c.2563-2A>G;ENST00000255226:exon20:c.2563-2A>G;ENST00000589658:exon9:c.994-2A>G)	.	.	0.999989917668626	0.924
18	43262282	A	T	18	45682317	y	y	splicing	SLC14A2(NM_001242692:exon21:c.2563-2A>T;NM_007163:exon20:c.2563-2A>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon21:c.2563-2A>T;ENST00000255226:exon20:c.2563-2A>T;ENST00000589658:exon9:c.994-2A>T)	.	.	0.999989917668626	0.914
18	43262283	G	A	18	45682318	y	y	splicing	SLC14A2(NM_001242692:exon21:c.2563-1G>A;NM_007163:exon20:c.2563-1G>A)	.	.	splicing	ENSG00000132874(ENST00000586448:exon21:c.2563-1G>A;ENST00000255226:exon20:c.2563-1G>A;ENST00000589658:exon9:c.994-1G>A)	.	.	0.999986675681007	0.938
18	43262283	G	C	18	45682318	y	y	splicing	SLC14A2(NM_001242692:exon21:c.2563-1G>C;NM_007163:exon20:c.2563-1G>C)	.	.	splicing	ENSG00000132874(ENST00000586448:exon21:c.2563-1G>C;ENST00000255226:exon20:c.2563-1G>C;ENST00000589658:exon9:c.994-1G>C)	.	.	0.999986675681007	0.938
18	43262283	G	T	18	45682318	y	y	splicing	SLC14A2(NM_001242692:exon21:c.2563-1G>T;NM_007163:exon20:c.2563-1G>T)	.	.	splicing	ENSG00000132874(ENST00000586448:exon21:c.2563-1G>T;ENST00000255226:exon20:c.2563-1G>T;ENST00000589658:exon9:c.994-1G>T)	.	.	0.999986675681007	0.938
18	43262284	T	A	18	45682319	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon21:c.T2563A:p.F855I;SLC14A2:NM_007163:exon20:c.T2563A:p.F855I;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon9:c.T994A:p.F332I;ENSG00000132874:ENST00000255226:exon20:c.T2563A:p.F855I;ENSG00000132874:ENST00000586448:exon21:c.T2563A:p.F855I;	2.55102415648586E-4	0.014
18	43262284	T	C	18	45682319	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon21:c.T2563C:p.F855L;SLC14A2:NM_007163:exon20:c.T2563C:p.F855L;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon9:c.T994C:p.F332L;ENSG00000132874:ENST00000255226:exon20:c.T2563C:p.F855L;ENSG00000132874:ENST00000586448:exon21:c.T2563C:p.F855L;	0.00823099495802567	0.042
18	43262284	T	G	18	45682319	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon21:c.T2563G:p.F855V;SLC14A2:NM_007163:exon20:c.T2563G:p.F855V;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon9:c.T994G:p.F332V;ENSG00000132874:ENST00000255226:exon20:c.T2563G:p.F855V;ENSG00000132874:ENST00000586448:exon21:c.T2563G:p.F855V;	0.00152325968014949	0.132
18	43262285	T	A	18	45682320	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon21:c.T2564A:p.F855Y;SLC14A2:NM_007163:exon20:c.T2564A:p.F855Y;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon9:c.T995A:p.F332Y;ENSG00000132874:ENST00000255226:exon20:c.T2564A:p.F855Y;ENSG00000132874:ENST00000586448:exon21:c.T2564A:p.F855Y;	0.00298922744980273	0.026
18	43262285	T	C	18	45682320	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon21:c.T2564C:p.F855S;SLC14A2:NM_007163:exon20:c.T2564C:p.F855S;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon9:c.T995C:p.F332S;ENSG00000132874:ENST00000255226:exon20:c.T2564C:p.F855S;ENSG00000132874:ENST00000586448:exon21:c.T2564C:p.F855S;	0.00341846299259391	0.034
18	43262285	T	G	18	45682320	y	y	exonic	SLC14A2	nonsynonymous SNV	SLC14A2:NM_001242692:exon21:c.T2564G:p.F855C;SLC14A2:NM_007163:exon20:c.T2564G:p.F855C;	exonic	ENSG00000132874	nonsynonymous SNV	ENSG00000132874:ENST00000589658:exon9:c.T995G:p.F332C;ENSG00000132874:ENST00000255226:exon20:c.T2564G:p.F855C;ENSG00000132874:ENST00000586448:exon21:c.T2564G:p.F855C;	3.49668730192159E-4	0.006
18	43304236	G	A	18	45724271	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.4988360059907E-5	0.0
18	43304236	G	C	18	45724271	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.4988360059907E-5	0.0
18	43304236	G	T	18	45724271	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.98998747593007E-5	0.03
18	43304237	G	A	18	45724272	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.73534572359005E-4	0.098
18	43304237	G	C	18	45724272	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.52512723615164E-5	0.002
18	43304237	G	T	18	45724272	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.06643143795761E-5	0.0
18	43304238	T	A	18	45724273	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.23179351507181E-5	0.002
18	43304238	T	C	18	45724273	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.33215206424517E-5	0.022
18	43304238	T	G	18	45724273	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.02988479841216E-5	0.016
18	43304239	G	A	18	45724274	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999975694284506	0.77
18	43304239	G	C	18	45724274	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999980795553335	0.758
18	43304239	G	T	18	45724274	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999975694284506	0.754
18	43304240	T	A	18	45724275	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999980255680118	0.784
18	43304240	T	C	18	45724275	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.854715959543317	0.512
18	43304240	T	G	18	45724275	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999980255680118	0.74
18	43304241	A	C	18	45724276	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999719372543605	0.896
18	43304241	A	G	18	45724276	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0254951775738088	0.286
18	43304241	A	T	18	45724276	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999775606959506	0.894
18	43304242	A	C	18	45724277	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.992968275764426	0.76
18	43304242	A	G	18	45724277	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.993911166404812	0.886
18	43304242	A	T	18	45724277	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.9883471661625	0.826
18	43304243	G	A	18	45724278	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999984166337008	1.0
18	43304243	G	C	18	45724278	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999994438363474	0.984
18	43304243	G	T	18	45724278	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999990690024462	1.0
18	43304244	T	A	18	45724279	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.871473367984677	0.666
18	43304244	T	C	18	45724279	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.991844396582179	0.838
18	43304244	T	G	18	45724279	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.985913829326383	0.704
18	43304245	A	C	18	45724280	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.76926247400981E-5	0.002
18	43304245	A	G	18	45724280	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.40365943194871E-5	0.002
18	43304245	A	T	18	45724280	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.76926247400981E-5	0.0
18	43304246	C	A	18	45724281	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.92579418961456E-4	0.034
18	43304246	C	G	18	45724281	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.26954946448503E-5	0.0
18	43304246	C	T	18	45724281	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.80273347716002E-4	0.004
18	43304903	T	A	18	45724938	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0186864819505203	0.23
18	43304903	T	C	18	45724938	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.74148755381293E-4	0.016
18	43304903	T	G	18	45724938	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0228574297934259	0.22
18	43304904	T	A	18	45724939	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.786375817157862	0.594
18	43304904	T	C	18	45724939	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0157328578375644	0.188
18	43304904	T	G	18	45724939	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.677913490603199	0.53
18	43304905	C	A	18	45724940	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0567372598206631	0.094
18	43304905	C	G	18	45724940	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.031337608523104	0.098
18	43304905	C	T	18	45724940	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.54748022123915E-4	0.0
18	43304906	C	A	18	45724941	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	8.99466362784416E-4	0.106
18	43304906	C	G	18	45724941	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0025661118151356	0.12
18	43304906	C	T	18	45724941	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.74091915477442E-5	0.012
18	43304907	A	C	18	45724942	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.36663926883989E-4	0.004
18	43304907	A	G	18	45724942	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	9.65260227218645E-5	0.004
18	43304907	A	T	18	45724942	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.33687029473176E-5	0.0
18	43304908	A	C	18	45724943	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.04884201106214E-4	0.012
18	43304908	A	G	18	45724943	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.999776135886047	0.986
18	43304908	A	T	18	45724943	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.02213676552808E-4	0.026
18	43304909	T	A	18	45724944	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.740066491519073	0.474
18	43304909	T	C	18	45724944	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00464109451935363	0.13
18	43304909	T	G	18	45724944	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.999902391962933	0.97
18	43304910	T	A	18	45724945	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.573190037203717	0.658
18	43304910	T	C	18	45724945	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00325494061684642	0.102
18	43304910	T	G	18	45724945	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.491787603165037	0.6
18	43304911	A	C	18	45724946	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00393751686315495	0.092
18	43304911	A	G	18	45724946	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0172656111790147	0.132
18	43304911	A	T	18	45724946	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00365617509751811	0.088
18	43304912	C	A	18	45724947	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.965438515541708	0.75
18	43304912	C	G	18	45724947	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.999407021544164	0.968
18	43304912	C	T	18	45724947	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.157309305992883	0.362
18	43304913	A	C	18	45724948	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.99994568797423	0.928
18	43304913	A	G	18	45724948	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.99994568797423	0.928
18	43304913	A	T	18	45724948	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.99994568797423	0.918
18	43304914	G	A	18	45724949	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999961498853717	0.922
18	43304914	G	C	18	45724949	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999961498853717	0.926
18	43304914	G	T	18	45724949	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999961498853717	0.924
18	43304915	C	A	18	45724950	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.54891951612542E-5	0.0
18	43304915	C	G	18	45724950	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.16041881178974E-4	0.086
18	43304915	C	T	18	45724950	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.74131240295434E-4	0.166
18	43304916	T	A	18	45724951	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00124285428319846	0.146
18	43304916	T	C	18	45724951	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00274804000824956	0.218
18	43304916	T	G	18	45724951	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.75771155379208E-4	0.09
18	43304976	A	C	18	45725011	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.12844071158565E-5	0.0
18	43304976	A	G	18	45725011	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.63971743086676E-4	0.006
18	43304976	A	T	18	45725011	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	9.25673917172255E-4	0.178
18	43304977	T	A	18	45725012	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.58095901484524E-4	0.184
18	43304977	T	C	18	45725012	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.66517350895978E-5	0.018
18	43304977	T	G	18	45725012	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.28670432578112E-4	0.046
18	43304978	A	C	18	45725013	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.87139160986512E-4	0.106
18	43304978	A	G	18	45725013	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.11553660302559E-4	0.042
18	43304978	A	T	18	45725013	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	8.16563187175218E-4	0.09
18	43304979	G	A	18	45725014	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999944160419035	0.876
18	43304979	G	C	18	45725014	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999944160419035	0.88
18	43304979	G	T	18	45725014	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999944160419035	0.88
18	43304980	T	A	18	45725015	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999986607513753	0.924
18	43304980	T	C	18	45725015	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.983078949561661	0.58
18	43304980	T	G	18	45725015	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999986607513753	0.924
18	43304981	A	C	18	45725016	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999761310359087	0.956
18	43304981	A	G	18	45725016	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.95940608581849	0.554
18	43304981	A	T	18	45725016	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999671731417751	0.996
18	43304982	A	C	18	45725017	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.990671742257359	0.872
18	43304982	A	G	18	45725017	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99647368589152	0.95
18	43304982	A	T	18	45725017	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999134400369318	0.902
18	43304983	G	A	18	45725018	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999991164819226	0.998
18	43304983	G	C	18	45725018	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99998961971895	1.0
18	43304983	G	T	18	45725018	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99998961971895	0.984
18	43304984	T	A	18	45725019	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.989042879475572	0.7
18	43304984	T	C	18	45725019	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.997360591779196	0.844
18	43304984	T	G	18	45725019	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.995060340247993	0.932
18	43304985	A	C	18	45725020	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.42663483697088E-4	0.004
18	43304985	A	G	18	45725020	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.42663483697088E-4	0.004
18	43304985	A	T	18	45725020	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.10874573120104E-4	0.004
18	43304986	C	A	18	45725021	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.09663476023153E-4	0.0
18	43304986	C	G	18	45725021	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.8510648478699E-4	0.0
18	43304986	C	T	18	45725021	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.05923468377003E-4	0.0
18	43307214	T	A	18	45727249	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.891664765959219	.
18	43307214	T	C	18	45727249	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0538373560853692	.
18	43307214	T	G	18	45727249	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.975055124236399	.
18	43307215	C	A	18	45727250	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0157930997244442	.
18	43307215	C	G	18	45727250	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	8.6575490583947E-4	.
18	43307215	C	T	18	45727250	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.79211690997612E-4	.
18	43307216	A	C	18	45727251	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.80753675809934E-5	.
18	43307216	A	G	18	45727251	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.46087869790121E-4	.
18	43307216	A	T	18	45727251	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.47198573830097E-5	.
18	43307217	T	A	18	45727252	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.992566831316037	.
18	43307217	T	C	18	45727252	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.01448585619127E-4	.
18	43307217	T	G	18	45727252	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.992566831316037	.
18	43307218	G	A	18	45727253	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.17953183205699E-4	.
18	43307218	G	C	18	45727253	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.16562750381735E-5	.
18	43307218	G	T	18	45727253	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.94327236709714E-5	.
18	43307219	T	A	18	45727254	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.31411148936845	.
18	43307219	T	C	18	45727254	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.82373633355115E-4	.
18	43307219	T	G	18	45727254	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.306542719382044	.
18	43307220	A	C	18	45727255	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.91678842566407E-5	.
18	43307220	A	G	18	45727255	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.30665411202519E-5	.
18	43307220	A	T	18	45727255	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	8.96136862022221E-6	.
18	43307221	T	A	18	45727256	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.797341644476743	.
18	43307221	T	C	18	45727256	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00135784511110809	.
18	43307221	T	G	18	45727256	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.998869506203084	.
18	43307222	T	A	18	45727257	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.90359374197269E-4	.
18	43307222	T	C	18	45727257	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.2027760127526E-4	.
18	43307222	T	G	18	45727257	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.21573272698766E-4	.
18	43307223	G	A	18	45727258	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.48786502684395E-5	.
18	43307223	G	C	18	45727258	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.95609727739822E-5	.
18	43307223	G	T	18	45727258	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.93907891632855E-5	.
18	43307224	A	C	18	45727259	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999758624979273	.
18	43307224	A	G	18	45727259	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999758624979273	.
18	43307224	A	T	18	45727259	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.9998780249771	.
18	43307225	G	A	18	45727260	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999642763912477	.
18	43307225	G	C	18	45727260	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999642763912477	.
18	43307225	G	T	18	45727260	y	y	splicing	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.999642763912477	.
18	43307226	A	C	18	45727261	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00120241196416553	.
18	43307226	A	G	18	45727261	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	8.11773151836239E-5	.
18	43307226	A	T	18	45727261	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.64966530467679E-4	.
18	43307227	A	C	18	45727262	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.22375625422234E-4	.
18	43307227	A	G	18	45727262	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.75481335524645E-4	.
18	43307227	A	T	18	45727262	y	y	UTR5	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.47711761078278E-4	.
18	43307381	C	A	18	45727416	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon1:c.C145A:p.Q49K;SLC14A1:NM_001128588:exon3:c.C145A:p.Q49K;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000502059:exon3:c.C15A:p.N5K;ENSG00000141469:ENST00000588179:exon3:c.C145A:p.Q49K;ENSG00000141469:ENST00000589891:exon1:c.C145A:p.Q49K;ENSG00000141469:ENST00000436407:exon1:c.C145A:p.Q49K;ENSG00000141469:ENST00000415427:exon3:c.C145A:p.Q49K;	0.00173808645156347	0.076
18	43307381	C	G	18	45727416	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon1:c.C145G:p.Q49E;SLC14A1:NM_001128588:exon3:c.C145G:p.Q49E;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000502059:exon3:c.C15G:p.N5K;ENSG00000141469:ENST00000588179:exon3:c.C145G:p.Q49E;ENSG00000141469:ENST00000589891:exon1:c.C145G:p.Q49E;ENSG00000141469:ENST00000436407:exon1:c.C145G:p.Q49E;ENSG00000141469:ENST00000415427:exon3:c.C145G:p.Q49E;	0.0014228363032797	0.13
18	43307381	C	T	18	45727416	y	y	exonic	SLC14A1	stopgain SNV	SLC14A1:NM_001146037:exon1:c.C145T:p.Q49X;SLC14A1:NM_001128588:exon3:c.C145T:p.Q49X;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000588179:exon3:c.C145T:p.Q49X;ENSG00000141469:ENST00000589891:exon1:c.C145T:p.Q49X;ENSG00000141469:ENST00000436407:exon1:c.C145T:p.Q49X;ENSG00000141469:ENST00000415427:exon3:c.C145T:p.Q49X;	0.897770798635397	0.752
18	43307382	A	C	18	45727417	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon1:c.A146C:p.Q49P;SLC14A1:NM_001128588:exon3:c.A146C:p.Q49P;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000588179:exon3:c.A146C:p.Q49P;ENSG00000141469:ENST00000589891:exon1:c.A146C:p.Q49P;ENSG00000141469:ENST00000436407:exon1:c.A146C:p.Q49P;ENSG00000141469:ENST00000415427:exon3:c.A146C:p.Q49P;	0.998330513569213	0.864
18	43307382	A	G	18	45727417	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon1:c.A146G:p.Q49R;SLC14A1:NM_001128588:exon3:c.A146G:p.Q49R;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000502059:exon3:c.A16G:p.R6G;ENSG00000141469:ENST00000588179:exon3:c.A146G:p.Q49R;ENSG00000141469:ENST00000589891:exon1:c.A146G:p.Q49R;ENSG00000141469:ENST00000436407:exon1:c.A146G:p.Q49R;ENSG00000141469:ENST00000415427:exon3:c.A146G:p.Q49R;	0.779029632459926	0.65
18	43307382	A	T	18	45727417	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon1:c.A146T:p.Q49L;SLC14A1:NM_001128588:exon3:c.A146T:p.Q49L;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000502059:exon3:c.A16T:p.R6W;ENSG00000141469:ENST00000588179:exon3:c.A146T:p.Q49L;ENSG00000141469:ENST00000589891:exon1:c.A146T:p.Q49L;ENSG00000141469:ENST00000436407:exon1:c.A146T:p.Q49L;ENSG00000141469:ENST00000415427:exon3:c.A146T:p.Q49L;	0.99852856680356	0.91
18	43307383	G	A	18	45727418	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon1:c.G147A:p.Q49Q;SLC14A1:NM_001128588:exon3:c.G147A:p.Q49Q;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000502059:exon3:c.G17A:p.R6K;	0.999158816586291	0.954
18	43307383	G	C	18	45727418	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon1:c.G147C:p.Q49H;SLC14A1:NM_001128588:exon3:c.G147C:p.Q49H;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000502059:exon3:c.G17C:p.R6T;ENSG00000141469:ENST00000588179:exon3:c.G147C:p.Q49H;ENSG00000141469:ENST00000589891:exon1:c.G147C:p.Q49H;ENSG00000141469:ENST00000436407:exon1:c.G147C:p.Q49H;ENSG00000141469:ENST00000415427:exon3:c.G147C:p.Q49H;	0.999990199942227	0.976
18	43307383	G	T	18	45727418	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon1:c.G147T:p.Q49H;SLC14A1:NM_001128588:exon3:c.G147T:p.Q49H;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000502059:exon3:c.G17T:p.R6M;ENSG00000141469:ENST00000588179:exon3:c.G147T:p.Q49H;ENSG00000141469:ENST00000589891:exon1:c.G147T:p.Q49H;ENSG00000141469:ENST00000436407:exon1:c.G147T:p.Q49H;ENSG00000141469:ENST00000415427:exon3:c.G147T:p.Q49H;	0.999955273852867	0.986
18	43307384	G	A	18	45727419	y	y	splicing	SLC14A1(NM_001128588:exon3:c.147+1G>A;NM_001146037:exon1:c.147+1G>A)	.	.	splicing	ENSG00000141469(ENST00000502059:exon3:c.17+1G>A;ENST00000415427:exon3:c.147+1G>A;ENST00000588179:exon3:c.147+1G>A;ENST00000436407:exon1:c.147+1G>A;ENST00000589891:exon1:c.147+1G>A)	.	.	0.999987816357178	0.932
18	43307384	G	C	18	45727419	y	y	splicing	SLC14A1(NM_001128588:exon3:c.147+1G>C;NM_001146037:exon1:c.147+1G>C)	.	.	splicing	ENSG00000141469(ENST00000502059:exon3:c.17+1G>C;ENST00000415427:exon3:c.147+1G>C;ENST00000588179:exon3:c.147+1G>C;ENST00000436407:exon1:c.147+1G>C;ENST00000589891:exon1:c.147+1G>C)	.	.	0.999968560109063	0.934
18	43307384	G	T	18	45727419	y	y	splicing	SLC14A1(NM_001128588:exon3:c.147+1G>T;NM_001146037:exon1:c.147+1G>T)	.	.	splicing	ENSG00000141469(ENST00000502059:exon3:c.17+1G>T;ENST00000415427:exon3:c.147+1G>T;ENST00000588179:exon3:c.147+1G>T;ENST00000436407:exon1:c.147+1G>T;ENST00000589891:exon1:c.147+1G>T)	.	.	0.999968560109063	0.932
18	43307385	T	A	18	45727420	y	y	splicing	SLC14A1(NM_001128588:exon3:c.147+2T>A;NM_001146037:exon1:c.147+2T>A)	.	.	splicing	ENSG00000141469(ENST00000502059:exon3:c.17+2T>A;ENST00000415427:exon3:c.147+2T>A;ENST00000588179:exon3:c.147+2T>A;ENST00000436407:exon1:c.147+2T>A;ENST00000589891:exon1:c.147+2T>A)	.	.	0.999942003357773	0.9
18	43307385	T	C	18	45727420	y	y	splicing	SLC14A1(NM_001128588:exon3:c.147+2T>C;NM_001146037:exon1:c.147+2T>C)	.	.	splicing	ENSG00000141469(ENST00000502059:exon3:c.17+2T>C;ENST00000415427:exon3:c.147+2T>C;ENST00000588179:exon3:c.147+2T>C;ENST00000436407:exon1:c.147+2T>C;ENST00000589891:exon1:c.147+2T>C)	.	.	0.932114318309389	0.596
18	43307385	T	G	18	45727420	y	y	splicing	SLC14A1(NM_001128588:exon3:c.147+2T>G;NM_001146037:exon1:c.147+2T>G)	.	.	splicing	ENSG00000141469(ENST00000502059:exon3:c.17+2T>G;ENST00000415427:exon3:c.147+2T>G;ENST00000588179:exon3:c.147+2T>G;ENST00000436407:exon1:c.147+2T>G;ENST00000589891:exon1:c.147+2T>G)	.	.	0.999942003357773	0.9
18	43307386	A	C	18	45727421	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.995818179136808	0.762
18	43307386	A	G	18	45727421	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.771218275568661	0.63
18	43307386	A	T	18	45727421	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.993630310221602	0.72
18	43307387	T	A	18	45727422	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.04437690629302E-5	0.036
18	43307387	T	C	18	45727422	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.72857739464294E-5	0.016
18	43307387	T	G	18	45727422	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.20643592781751E-5	0.002
18	43307388	G	A	18	45727423	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99333312418747	0.708
18	43307388	G	C	18	45727423	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.997909950079169	0.656
18	43307388	G	T	18	45727423	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999627243921619	0.872
18	43307389	C	A	18	45727424	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.46942803486291E-4	0.032
18	43307389	C	G	18	45727424	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.53330275419411E-4	0.018
18	43307389	C	T	18	45727424	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.13436528883444E-4	0.008
18	43307390	T	A	18	45727425	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.77238830199915E-4	0.012
18	43307390	T	C	18	45727425	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.69466089456713E-4	0.004
18	43307390	T	G	18	45727425	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.94521681473452E-4	0.004
18	43307391	T	A	18	45727426	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.64677722929178E-5	0.0
18	43307391	T	C	18	45727426	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.9179976414138E-5	0.0
18	43307391	T	G	18	45727426	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.25750359445004E-5	0.0
18	43309939	A	C	18	45729974	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.60947442822834E-5	0.0
18	43309939	A	G	18	45729974	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.60947442822834E-5	0.0
18	43309939	A	T	18	45729974	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.60947442822834E-5	0.0
18	43309940	C	A	18	45729975	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.15941453541388E-5	0.002
18	43309940	C	G	18	45729975	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.15941453541388E-5	0.004
18	43309940	C	T	18	45729975	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.15941453541388E-5	0.002
18	43309941	T	A	18	45729976	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.69171314780076E-4	0.006
18	43309941	T	C	18	45729976	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.20237970951444E-4	0.004
18	43309941	T	G	18	45729976	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.20237970951444E-4	0.004
18	43309942	G	A	18	45729977	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.52881759733747E-5	0.0
18	43309942	G	C	18	45729977	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.00675832680685E-4	0.036
18	43309942	G	T	18	45729977	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.52881759733747E-5	0.0
18	43309943	T	A	18	45729978	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.08283536090959E-4	0.022
18	43309943	T	C	18	45729978	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.19120355952191E-4	0.02
18	43309943	T	G	18	45729978	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.19120355952191E-4	0.02
18	43309944	T	A	18	45729979	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.84650287766538E-5	0.048
18	43309944	T	C	18	45729979	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.84650287766538E-5	0.048
18	43309944	T	G	18	45729979	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.84650287766538E-5	0.048
18	43309945	T	A	18	45729980	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.65277902440513E-4	0.108
18	43309945	T	C	18	45729980	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.65277902440513E-4	0.088
18	43309945	T	G	18	45729980	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.65277902440513E-4	0.088
18	43309946	T	A	18	45729981	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0042401975290627	0.02
18	43309946	T	C	18	45729981	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00415909698297135	0.016
18	43309946	T	G	18	45729981	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00415909698297135	0.016
18	43309947	T	A	18	45729982	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.0528340005012E-4	0.004
18	43309947	T	C	18	45729982	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.07675666564794E-5	0.004
18	43309947	T	G	18	45729982	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.07675666564794E-5	0.004
18	43309948	C	A	18	45729983	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.55591281443725E-4	0.014
18	43309948	C	G	18	45729983	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.09349544230799E-4	0.004
18	43309948	C	T	18	45729983	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	9.17983391012012E-4	0.012
18	43309949	A	C	18	45729984	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	1.17564447662592E-4	0.0
18	43309949	A	G	18	45729984	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	1.17564447662592E-4	0.002
18	43309949	A	T	18	45729984	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	6.46844991217429E-5	0.0
18	43309950	G	A	18	45729985	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	8.99988029025968E-5	0.0
18	43309950	G	C	18	45729985	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	8.15438279315683E-5	0.0
18	43309950	G	T	18	45729985	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	8.15438279315683E-5	0.0
18	43309951	T	A	18	45729986	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.2194139863653E-4	0.0
18	43309951	T	C	18	45729986	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.2194139863653E-4	0.0
18	43309951	T	G	18	45729986	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.2194139863653E-4	0.0
18	43309952	C	A	18	45729987	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.63392923722222E-4	0.006
18	43309952	C	G	18	45729987	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.16130803851036E-4	0.0
18	43309952	C	T	18	45729987	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.63392923722222E-4	0.01
18	43310083	A	C	18	45730118	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.07902708129146E-4	0.004
18	43310083	A	G	18	45730118	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.66901453745597E-5	0.002
18	43310083	A	T	18	45730118	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.44101454748109E-4	0.006
18	43310084	A	C	18	45730119	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.38801286061798E-4	0.002
18	43310084	A	G	18	45730119	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	8.16602419096015E-4	0.002
18	43310084	A	T	18	45730119	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.70373002829532E-4	0.022
18	43310085	G	A	18	45730120	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	9.68632724264029E-5	0.002
18	43310085	G	C	18	45730120	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.7106675465155E-5	0.002
18	43310085	G	T	18	45730120	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	8.2076870637481E-5	0.002
18	43310086	G	A	18	45730121	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.00696388467382607	0.052
18	43310086	G	C	18	45730121	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.00481471092766243	0.054
18	43310086	G	T	18	45730121	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	0.00696388467382607	0.066
18	43310087	T	A	18	45730122	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	4.22800136258938E-5	0.004
18	43310087	T	C	18	45730122	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	4.22800136258938E-5	0.004
18	43310087	T	G	18	45730122	n	y	intronic	SLC14A1	.	.	splicing	ENSG00000141469	.	.	4.22800136258938E-5	0.004
18	43310088	A	C	18	45730123	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.15494709416875E-5	0.002
18	43310088	A	G	18	45730123	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.15494709416875E-5	0.0
18	43310088	A	T	18	45730123	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.15494709416875E-5	0.0
18	43310089	C	A	18	45730124	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.93085172497117E-5	0.002
18	43310089	C	G	18	45730124	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.93085172497117E-5	0.002
18	43310089	C	T	18	45730124	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.93085172497117E-5	0.002
18	43310090	T	A	18	45730125	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.00989387034782E-5	0.0
18	43310090	T	C	18	45730125	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.86269840649936E-5	0.0
18	43310090	T	G	18	45730125	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.86269840649936E-5	0.0
18	43310091	G	A	18	45730126	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	7.44551275265223E-5	0.008
18	43310091	G	C	18	45730126	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.02728736892418E-4	0.016
18	43310091	G	T	18	45730126	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.38603341338827E-4	0.008
18	43310092	T	A	18	45730127	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.44682472353823E-4	0.0
18	43310092	T	C	18	45730127	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.05309614883202E-4	0.0
18	43310092	T	G	18	45730127	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.05309614883202E-4	0.0
18	43310093	G	A	18	45730128	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.4518697930878E-5	0.018
18	43310093	G	C	18	45730128	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.4518697930878E-5	0.0
18	43310093	G	T	18	45730128	n	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.4518697930878E-5	0.0
18	43310253	C	A	18	45730288	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00162217791577346	0.11
18	43310253	C	G	18	45730288	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.69252638005898E-4	0.124
18	43310253	C	T	18	45730288	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.97375030886514E-5	0.004
18	43310254	C	A	18	45730289	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.60209913583398E-4	0.062
18	43310254	C	G	18	45730289	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	8.69743704006289E-4	0.034
18	43310254	C	T	18	45730289	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.87642205772737E-5	0.0
18	43310255	T	A	18	45730290	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00223397661954848	0.3
18	43310255	T	C	18	45730290	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.95229423162618E-4	0.044
18	43310255	T	G	18	45730290	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00467265355943516	0.286
18	43310256	T	A	18	45730291	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0136898303831756	0.24
18	43310256	T	C	18	45730291	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00128508225018989	0.056
18	43310256	T	G	18	45730291	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00980514844182892	0.166
18	43310257	C	A	18	45730292	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.60034871074685E-4	0.066
18	43310257	C	G	18	45730292	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.34217320396446E-4	0.022
18	43310257	C	T	18	45730292	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.97442062292361E-5	0.0
18	43310258	C	A	18	45730293	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0016517055185236	0.092
18	43310258	C	G	18	45730293	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00149006236122236	0.088
18	43310258	C	T	18	45730293	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.38460390784595E-5	0.004
18	43310259	C	A	18	45730294	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.91714819145764E-4	0.214
18	43310259	C	G	18	45730294	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0198551610986231	0.172
18	43310259	C	T	18	45730294	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.1506009337448E-5	0.006
18	43310260	T	A	18	45730295	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00408241610062864	0.17
18	43310260	T	C	18	45730295	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.86768379513064E-4	0.04
18	43310260	T	G	18	45730295	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0120465724489709	0.244
18	43310261	C	A	18	45730296	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.26980816059339E-5	0.004
18	43310261	C	G	18	45730296	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.13523739613576E-5	0.0
18	43310261	C	T	18	45730296	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.26980816059339E-5	0.004
18	43310262	A	C	18	45730297	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.05594991951018E-4	0.218
18	43310262	A	G	18	45730297	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00858590814348151	0.298
18	43310262	A	T	18	45730297	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	9.88198205087901E-5	0.032
18	43310263	A	C	18	45730298	y	y	splicing	SLC14A1(NM_001128588:exon4:c.148-2A>C;NM_001146037:exon2:c.148-2A>C)	.	.	splicing	ENSG00000141469(ENST00000415427:exon4:c.148-2A>C;ENST00000588179:exon4:c.148-2A>C;ENST00000436407:exon2:c.148-2A>C;ENST00000589891:exon2:c.148-2A>C)	.	.	0.999962958601995	0.816
18	43310263	A	G	18	45730298	y	y	splicing	SLC14A1(NM_001128588:exon4:c.148-2A>G;NM_001146037:exon2:c.148-2A>G)	.	.	splicing	ENSG00000141469(ENST00000415427:exon4:c.148-2A>G;ENST00000588179:exon4:c.148-2A>G;ENST00000436407:exon2:c.148-2A>G;ENST00000589891:exon2:c.148-2A>G)	.	.	0.999962958601995	0.818
18	43310263	A	T	18	45730298	y	y	splicing	SLC14A1(NM_001128588:exon4:c.148-2A>T;NM_001146037:exon2:c.148-2A>T)	.	.	splicing	ENSG00000141469(ENST00000415427:exon4:c.148-2A>T;ENST00000588179:exon4:c.148-2A>T;ENST00000436407:exon2:c.148-2A>T;ENST00000589891:exon2:c.148-2A>T)	.	.	0.999969712949741	0.862
18	43310264	G	A	18	45730299	y	y	splicing	SLC14A1(NM_001128588:exon4:c.148-1G>A;NM_001146037:exon2:c.148-1G>A)	.	.	splicing	ENSG00000141469(ENST00000415427:exon4:c.148-1G>A;ENST00000588179:exon4:c.148-1G>A;ENST00000436407:exon2:c.148-1G>A;ENST00000589891:exon2:c.148-1G>A)	.	.	0.999974785031454	0.87
18	43310264	G	C	18	45730299	y	y	splicing	SLC14A1(NM_001128588:exon4:c.148-1G>C;NM_001146037:exon2:c.148-1G>C)	.	.	splicing	ENSG00000141469(ENST00000415427:exon4:c.148-1G>C;ENST00000588179:exon4:c.148-1G>C;ENST00000436407:exon2:c.148-1G>C;ENST00000589891:exon2:c.148-1G>C)	.	.	0.999969620222061	0.818
18	43310264	G	T	18	45730299	y	y	splicing	SLC14A1(NM_001128588:exon4:c.148-1G>T;NM_001146037:exon2:c.148-1G>T)	.	.	splicing	ENSG00000141469(ENST00000415427:exon4:c.148-1G>T;ENST00000588179:exon4:c.148-1G>T;ENST00000436407:exon2:c.148-1G>T;ENST00000589891:exon2:c.148-1G>T)	.	.	0.999969620222061	0.864
18	43310265	G	A	18	45730300	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.G148A:p.E50K;SLC14A1:NM_001128588:exon4:c.G148A:p.E50K;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000588179:exon4:c.G148A:p.E50K;ENSG00000141469:ENST00000589891:exon2:c.G148A:p.E50K;ENSG00000141469:ENST00000436407:exon2:c.G148A:p.E50K;ENSG00000141469:ENST00000415427:exon4:c.G148A:p.E50K;	0.997567175060408	0.828
18	43310265	G	C	18	45730300	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.G148C:p.E50Q;SLC14A1:NM_001128588:exon4:c.G148C:p.E50Q;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000588179:exon4:c.G148C:p.E50Q;ENSG00000141469:ENST00000589891:exon2:c.G148C:p.E50Q;ENSG00000141469:ENST00000436407:exon2:c.G148C:p.E50Q;ENSG00000141469:ENST00000415427:exon4:c.G148C:p.E50Q;	0.999601069345482	0.958
18	43310265	G	T	18	45730300	y	y	exonic	SLC14A1	stopgain SNV	SLC14A1:NM_001146037:exon2:c.G148T:p.E50X;SLC14A1:NM_001128588:exon4:c.G148T:p.E50X;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000588179:exon4:c.G148T:p.E50X;ENSG00000141469:ENST00000589891:exon2:c.G148T:p.E50X;ENSG00000141469:ENST00000436407:exon2:c.G148T:p.E50X;ENSG00000141469:ENST00000415427:exon4:c.G148T:p.E50X;	0.9999607292929	1.0
18	43310266	A	C	18	45730301	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.A149C:p.E50A;SLC14A1:NM_001128588:exon4:c.A149C:p.E50A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000588179:exon4:c.A149C:p.E50A;ENSG00000141469:ENST00000589891:exon2:c.A149C:p.E50A;ENSG00000141469:ENST00000436407:exon2:c.A149C:p.E50A;ENSG00000141469:ENST00000415427:exon4:c.A149C:p.E50A;	0.00286751715619539	0.042
18	43310266	A	G	18	45730301	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.A149G:p.E50G;SLC14A1:NM_001128588:exon4:c.A149G:p.E50G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000588179:exon4:c.A149G:p.E50G;ENSG00000141469:ENST00000589891:exon2:c.A149G:p.E50G;ENSG00000141469:ENST00000436407:exon2:c.A149G:p.E50G;ENSG00000141469:ENST00000415427:exon4:c.A149G:p.E50G;	0.00108345146395612	0.016
18	43310266	A	T	18	45730301	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.A149T:p.E50V;SLC14A1:NM_001128588:exon4:c.A149T:p.E50V;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000588179:exon4:c.A149T:p.E50V;ENSG00000141469:ENST00000589891:exon2:c.A149T:p.E50V;ENSG00000141469:ENST00000436407:exon2:c.A149T:p.E50V;ENSG00000141469:ENST00000415427:exon4:c.A149T:p.E50V;	7.67106494371298E-4	0.018
18	43310434	A	C	18	45730469	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.A317C:p.K106T;SLC14A1:NM_001128588:exon4:c.A317C:p.K106T;SLC14A1:NM_001146036:exon4:c.A149C:p.K50T;SLC14A1:NM_015865:exon3:c.A149C:p.K50T;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.A149C:p.K50T;ENSG00000141469:ENST00000586142:exon1:c.A149C:p.K50T;ENSG00000141469:ENST00000586951:exon4:c.A149C:p.K50T;ENSG00000141469:ENST00000586056:exon2:c.A149C:p.K50T;ENSG00000141469:ENST00000588179:exon4:c.A317C:p.K106T;ENSG00000141469:ENST00000589891:exon2:c.A317C:p.K106T;ENSG00000141469:ENST00000589700:exon1:c.A149C:p.K50T;ENSG00000141469:ENST00000436407:exon2:c.A317C:p.K106T;ENSG00000141469:ENST00000415427:exon4:c.A317C:p.K106T;	0.205653716938724	0.458
18	43310434	A	G	18	45730469	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.A317G:p.K106R;SLC14A1:NM_001128588:exon4:c.A317G:p.K106R;SLC14A1:NM_001146036:exon4:c.A149G:p.K50R;SLC14A1:NM_015865:exon3:c.A149G:p.K50R;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.A149G:p.K50R;ENSG00000141469:ENST00000586142:exon1:c.A149G:p.K50R;ENSG00000141469:ENST00000586951:exon4:c.A149G:p.K50R;ENSG00000141469:ENST00000586056:exon2:c.A149G:p.K50R;ENSG00000141469:ENST00000588179:exon4:c.A317G:p.K106R;ENSG00000141469:ENST00000589891:exon2:c.A317G:p.K106R;ENSG00000141469:ENST00000589700:exon1:c.A149G:p.K50R;ENSG00000141469:ENST00000436407:exon2:c.A317G:p.K106R;ENSG00000141469:ENST00000415427:exon4:c.A317G:p.K106R;	0.352919379336033	0.352
18	43310434	A	T	18	45730469	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.A317T:p.K106I;SLC14A1:NM_001128588:exon4:c.A317T:p.K106I;SLC14A1:NM_001146036:exon4:c.A149T:p.K50I;SLC14A1:NM_015865:exon3:c.A149T:p.K50I;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.A149T:p.K50I;ENSG00000141469:ENST00000586142:exon1:c.A149T:p.K50I;ENSG00000141469:ENST00000586951:exon4:c.A149T:p.K50I;ENSG00000141469:ENST00000586056:exon2:c.A149T:p.K50I;ENSG00000141469:ENST00000588179:exon4:c.A317T:p.K106I;ENSG00000141469:ENST00000589891:exon2:c.A317T:p.K106I;ENSG00000141469:ENST00000589700:exon1:c.A149T:p.K50I;ENSG00000141469:ENST00000436407:exon2:c.A317T:p.K106I;ENSG00000141469:ENST00000415427:exon4:c.A317T:p.K106I;	0.998279628537046	0.866
18	43310435	A	C	18	45730470	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.A318C:p.K106N;SLC14A1:NM_001128588:exon4:c.A318C:p.K106N;SLC14A1:NM_001146036:exon4:c.A150C:p.K50N;SLC14A1:NM_015865:exon3:c.A150C:p.K50N;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.A150C:p.K50N;ENSG00000141469:ENST00000586142:exon1:c.A150C:p.K50N;ENSG00000141469:ENST00000586951:exon4:c.A150C:p.K50N;ENSG00000141469:ENST00000586056:exon2:c.A150C:p.K50N;ENSG00000141469:ENST00000588179:exon4:c.A318C:p.K106N;ENSG00000141469:ENST00000589891:exon2:c.A318C:p.K106N;ENSG00000141469:ENST00000589700:exon1:c.A150C:p.K50N;ENSG00000141469:ENST00000436407:exon2:c.A318C:p.K106N;ENSG00000141469:ENST00000415427:exon4:c.A318C:p.K106N;	0.999853447774863	0.994
18	43310435	A	G	18	45730470	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon2:c.A318G:p.K106K;SLC14A1:NM_001128588:exon4:c.A318G:p.K106K;SLC14A1:NM_001146036:exon4:c.A150G:p.K50K;SLC14A1:NM_015865:exon3:c.A150G:p.K50K;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.A150G:p.K50K;ENSG00000141469:ENST00000586142:exon1:c.A150G:p.K50K;ENSG00000141469:ENST00000586951:exon4:c.A150G:p.K50K;ENSG00000141469:ENST00000586056:exon2:c.A150G:p.K50K;ENSG00000141469:ENST00000588179:exon4:c.A318G:p.K106K;ENSG00000141469:ENST00000589891:exon2:c.A318G:p.K106K;ENSG00000141469:ENST00000589700:exon1:c.A150G:p.K50K;ENSG00000141469:ENST00000436407:exon2:c.A318G:p.K106K;ENSG00000141469:ENST00000415427:exon4:c.A318G:p.K106K;	0.99953650420117	0.972
18	43310435	A	T	18	45730470	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.A318T:p.K106N;SLC14A1:NM_001128588:exon4:c.A318T:p.K106N;SLC14A1:NM_001146036:exon4:c.A150T:p.K50N;SLC14A1:NM_015865:exon3:c.A150T:p.K50N;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.A150T:p.K50N;ENSG00000141469:ENST00000586142:exon1:c.A150T:p.K50N;ENSG00000141469:ENST00000586951:exon4:c.A150T:p.K50N;ENSG00000141469:ENST00000586056:exon2:c.A150T:p.K50N;ENSG00000141469:ENST00000588179:exon4:c.A318T:p.K106N;ENSG00000141469:ENST00000589891:exon2:c.A318T:p.K106N;ENSG00000141469:ENST00000589700:exon1:c.A150T:p.K50N;ENSG00000141469:ENST00000436407:exon2:c.A318T:p.K106N;ENSG00000141469:ENST00000415427:exon4:c.A318T:p.K106N;	0.999951547993739	0.992
18	43310436	G	A	18	45730471	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.G319A:p.D107N;SLC14A1:NM_001128588:exon4:c.G319A:p.D107N;SLC14A1:NM_001146036:exon4:c.G151A:p.D51N;SLC14A1:NM_015865:exon3:c.G151A:p.D51N;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.G151A:p.D51N;ENSG00000141469:ENST00000586142:exon1:c.G151A:p.D51N;ENSG00000141469:ENST00000586951:exon4:c.G151A:p.D51N;ENSG00000141469:ENST00000586056:exon2:c.G151A:p.D51N;ENSG00000141469:ENST00000588179:exon4:c.G319A:p.D107N;ENSG00000141469:ENST00000589891:exon2:c.G319A:p.D107N;ENSG00000141469:ENST00000589700:exon1:c.G151A:p.D51N;ENSG00000141469:ENST00000436407:exon2:c.G319A:p.D107N;ENSG00000141469:ENST00000415427:exon4:c.G319A:p.D107N;	0.999990015207805	1.0
18	43310436	G	C	18	45730471	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.G319C:p.D107H;SLC14A1:NM_001128588:exon4:c.G319C:p.D107H;SLC14A1:NM_001146036:exon4:c.G151C:p.D51H;SLC14A1:NM_015865:exon3:c.G151C:p.D51H;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.G151C:p.D51H;ENSG00000141469:ENST00000586142:exon1:c.G151C:p.D51H;ENSG00000141469:ENST00000586951:exon4:c.G151C:p.D51H;ENSG00000141469:ENST00000586056:exon2:c.G151C:p.D51H;ENSG00000141469:ENST00000588179:exon4:c.G319C:p.D107H;ENSG00000141469:ENST00000589891:exon2:c.G319C:p.D107H;ENSG00000141469:ENST00000589700:exon1:c.G151C:p.D51H;ENSG00000141469:ENST00000436407:exon2:c.G319C:p.D107H;ENSG00000141469:ENST00000415427:exon4:c.G319C:p.D107H;	0.999997201717428	1.0
18	43310436	G	T	18	45730471	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon2:c.G319T:p.D107Y;SLC14A1:NM_001128588:exon4:c.G319T:p.D107Y;SLC14A1:NM_001146036:exon4:c.G151T:p.D51Y;SLC14A1:NM_015865:exon3:c.G151T:p.D51Y;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon3:c.G151T:p.D51Y;ENSG00000141469:ENST00000586142:exon1:c.G151T:p.D51Y;ENSG00000141469:ENST00000586951:exon4:c.G151T:p.D51Y;ENSG00000141469:ENST00000586056:exon2:c.G151T:p.D51Y;ENSG00000141469:ENST00000588179:exon4:c.G319T:p.D107Y;ENSG00000141469:ENST00000589891:exon2:c.G319T:p.D107Y;ENSG00000141469:ENST00000589700:exon1:c.G151T:p.D51Y;ENSG00000141469:ENST00000436407:exon2:c.G319T:p.D107Y;ENSG00000141469:ENST00000415427:exon4:c.G319T:p.D107Y;	0.999995009246243	1.0
18	43310437	G	A	18	45730472	y	y	splicing	SLC14A1(NM_001146036:exon4:c.151+1G>A;NM_015865:exon3:c.151+1G>A;NM_001128588:exon4:c.319+1G>A;NM_001146037:exon2:c.319+1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon3:c.151+1G>A;ENST00000415427:exon4:c.319+1G>A;ENST00000586951:exon4:c.151+1G>A;ENST00000588179:exon4:c.319+1G>A;ENST00000586056:exon2:c.151+1G>A;ENST00000436407:exon2:c.319+1G>A;ENST00000589891:exon2:c.319+1G>A;ENST00000586142:exon1:c.151+1G>A;ENST00000589700:exon1:c.151+1G>A)	.	.	0.999990361384395	0.948
18	43310437	G	C	18	45730472	y	y	splicing	SLC14A1(NM_001146036:exon4:c.151+1G>C;NM_015865:exon3:c.151+1G>C;NM_001128588:exon4:c.319+1G>C;NM_001146037:exon2:c.319+1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon3:c.151+1G>C;ENST00000415427:exon4:c.319+1G>C;ENST00000586951:exon4:c.151+1G>C;ENST00000588179:exon4:c.319+1G>C;ENST00000586056:exon2:c.151+1G>C;ENST00000436407:exon2:c.319+1G>C;ENST00000589891:exon2:c.319+1G>C;ENST00000586142:exon1:c.151+1G>C;ENST00000589700:exon1:c.151+1G>C)	.	.	0.999990361384395	0.948
18	43310437	G	T	18	45730472	y	y	splicing	SLC14A1(NM_001146036:exon4:c.151+1G>T;NM_015865:exon3:c.151+1G>T;NM_001128588:exon4:c.319+1G>T;NM_001146037:exon2:c.319+1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon3:c.151+1G>T;ENST00000415427:exon4:c.319+1G>T;ENST00000586951:exon4:c.151+1G>T;ENST00000588179:exon4:c.319+1G>T;ENST00000586056:exon2:c.151+1G>T;ENST00000436407:exon2:c.319+1G>T;ENST00000589891:exon2:c.319+1G>T;ENST00000586142:exon1:c.151+1G>T;ENST00000589700:exon1:c.151+1G>T)	.	.	0.999990361384395	0.948
18	43310438	T	A	18	45730473	y	y	splicing	SLC14A1(NM_001146036:exon4:c.151+2T>A;NM_015865:exon3:c.151+2T>A;NM_001128588:exon4:c.319+2T>A;NM_001146037:exon2:c.319+2T>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon3:c.151+2T>A;ENST00000415427:exon4:c.319+2T>A;ENST00000586951:exon4:c.151+2T>A;ENST00000588179:exon4:c.319+2T>A;ENST00000586056:exon2:c.151+2T>A;ENST00000436407:exon2:c.319+2T>A;ENST00000589891:exon2:c.319+2T>A;ENST00000586142:exon1:c.151+2T>A;ENST00000589700:exon1:c.151+2T>A)	.	.	0.999988247793601	0.948
18	43310438	T	C	18	45730473	y	y	splicing	SLC14A1(NM_001146036:exon4:c.151+2T>C;NM_015865:exon3:c.151+2T>C;NM_001128588:exon4:c.319+2T>C;NM_001146037:exon2:c.319+2T>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon3:c.151+2T>C;ENST00000415427:exon4:c.319+2T>C;ENST00000586951:exon4:c.151+2T>C;ENST00000588179:exon4:c.319+2T>C;ENST00000586056:exon2:c.151+2T>C;ENST00000436407:exon2:c.319+2T>C;ENST00000589891:exon2:c.319+2T>C;ENST00000586142:exon1:c.151+2T>C;ENST00000589700:exon1:c.151+2T>C)	.	.	0.98918007292081	0.692
18	43310438	T	G	18	45730473	y	y	splicing	SLC14A1(NM_001146036:exon4:c.151+2T>G;NM_015865:exon3:c.151+2T>G;NM_001128588:exon4:c.319+2T>G;NM_001146037:exon2:c.319+2T>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon3:c.151+2T>G;ENST00000415427:exon4:c.319+2T>G;ENST00000586951:exon4:c.151+2T>G;ENST00000588179:exon4:c.319+2T>G;ENST00000586056:exon2:c.151+2T>G;ENST00000436407:exon2:c.319+2T>G;ENST00000589891:exon2:c.319+2T>G;ENST00000586142:exon1:c.151+2T>G;ENST00000589700:exon1:c.151+2T>G)	.	.	0.999988247793601	0.948
18	43310439	A	C	18	45730474	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99989502046878	0.966
18	43310439	A	G	18	45730474	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99958694845766	0.932
18	43310439	A	T	18	45730474	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.988781041885519	0.9
18	43310440	T	A	18	45730475	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.28257117002086E-4	0.068
18	43310440	T	C	18	45730475	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0155217437328399	0.126
18	43310440	T	G	18	45730475	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.19124104352941E-4	0.026
18	43310441	T	A	18	45730476	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.4956048071241E-4	0.012
18	43310441	T	C	18	45730476	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.65287083839443E-4	0.008
18	43310441	T	G	18	45730476	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.08391371107969E-4	0.122
18	43310442	T	A	18	45730477	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.331529586659082	0.326
18	43310442	T	C	18	45730477	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.180759124707457	0.436
18	43310442	T	G	18	45730477	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0838644553135457	0.338
18	43310443	A	C	18	45730478	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.97978205410496E-4	0.002
18	43310443	A	G	18	45730478	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.4156885901322E-4	0.0
18	43310443	A	T	18	45730478	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.78283750085574E-4	0.048
18	43310444	T	A	18	45730479	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00176949493604744	0.138
18	43310444	T	C	18	45730479	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.34669091859011E-4	0.018
18	43310444	T	G	18	45730479	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00233196483226135	0.156
18	43310968	C	A	18	45731003	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00184349723516703	0.08
18	43310968	C	G	18	45731003	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.16635300700712E-4	0.154
18	43310968	C	T	18	45731003	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.130263917294E-5	0.006
18	43310969	A	C	18	45731004	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.61214927822815E-5	0.006
18	43310969	A	G	18	45731004	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.92854833164785E-5	0.018
18	43310969	A	T	18	45731004	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.2733213414554E-5	0.08
18	43310970	T	A	18	45731005	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0496878666376282	0.422
18	43310970	T	C	18	45731005	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00193923831210031	0.138
18	43310970	T	G	18	45731005	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999956226359088	0.976
18	43310971	C	A	18	45731006	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.31594065156846E-4	0.028
18	43310971	C	G	18	45731006	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.60302500077956E-4	0.06
18	43310971	C	T	18	45731006	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.39936692580335E-5	0.002
18	43310972	C	A	18	45731007	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.84801176440249E-4	0.03
18	43310972	C	G	18	45731007	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.66247085259531E-4	0.02
18	43310972	C	T	18	45731007	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	9.59835888467466E-6	0.006
18	43310973	C	A	18	45731008	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00185347301682894	0.048
18	43310973	C	G	18	45731008	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00126193819497489	0.052
18	43310973	C	T	18	45731008	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.80885531980253E-5	0.0
18	43310974	T	A	18	45731009	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00945020736907691	0.098
18	43310974	T	C	18	45731009	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.07726987778915E-5	0.016
18	43310974	T	G	18	45731009	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.150451530354866	0.148
18	43310975	T	A	18	45731010	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00498242860338568	0.27
18	43310975	T	C	18	45731010	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.74628096690446E-4	0.038
18	43310975	T	G	18	45731010	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0071738551252932	0.28
18	43310976	C	A	18	45731011	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.94845668210634E-5	0.0
18	43310976	C	G	18	45731011	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.33027957390687E-4	0.004
18	43310976	C	T	18	45731011	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.33045041064717E-5	0.0
18	43310977	C	A	18	45731012	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999159293484982	0.884
18	43310977	C	G	18	45731012	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999836884483478	0.952
18	43310977	C	T	18	45731012	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0519498340583119	0.18
18	43310978	A	C	18	45731013	y	y	splicing	SLC14A1(NM_001146036:exon5:c.152-2A>C;NM_015865:exon4:c.152-2A>C;NM_001128588:exon5:c.320-2A>C;NM_001146037:exon3:c.320-2A>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.152-2A>C;ENST00000415427:exon5:c.320-2A>C;ENST00000586951:exon5:c.152-2A>C;ENST00000588179:exon5:c.320-2A>C;ENST00000586056:exon3:c.152-2A>C;ENST00000436407:exon3:c.320-2A>C;ENST00000589891:exon3:c.320-2A>C;ENST00000586142:exon2:c.152-2A>C;ENST00000589700:exon2:c.152-2A>C)	.	.	0.999946188727699	0.942
18	43310978	A	G	18	45731013	y	y	splicing	SLC14A1(NM_001146036:exon5:c.152-2A>G;NM_015865:exon4:c.152-2A>G;NM_001128588:exon5:c.320-2A>G;NM_001146037:exon3:c.320-2A>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.152-2A>G;ENST00000415427:exon5:c.320-2A>G;ENST00000586951:exon5:c.152-2A>G;ENST00000588179:exon5:c.320-2A>G;ENST00000586056:exon3:c.152-2A>G;ENST00000436407:exon3:c.320-2A>G;ENST00000589891:exon3:c.320-2A>G;ENST00000586142:exon2:c.152-2A>G;ENST00000589700:exon2:c.152-2A>G)	.	.	0.999946188727699	0.942
18	43310978	A	T	18	45731013	y	y	splicing	SLC14A1(NM_001146036:exon5:c.152-2A>T;NM_015865:exon4:c.152-2A>T;NM_001128588:exon5:c.320-2A>T;NM_001146037:exon3:c.320-2A>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.152-2A>T;ENST00000415427:exon5:c.320-2A>T;ENST00000586951:exon5:c.152-2A>T;ENST00000588179:exon5:c.320-2A>T;ENST00000586056:exon3:c.152-2A>T;ENST00000436407:exon3:c.320-2A>T;ENST00000589891:exon3:c.320-2A>T;ENST00000586142:exon2:c.152-2A>T;ENST00000589700:exon2:c.152-2A>T)	.	.	0.999946188727699	0.938
18	43310979	G	A	18	45731014	y	y	splicing	SLC14A1(NM_001146036:exon5:c.152-1G>A;NM_015865:exon4:c.152-1G>A;NM_001128588:exon5:c.320-1G>A;NM_001146037:exon3:c.320-1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.152-1G>A;ENST00000415427:exon5:c.320-1G>A;ENST00000586951:exon5:c.152-1G>A;ENST00000588179:exon5:c.320-1G>A;ENST00000586056:exon3:c.152-1G>A;ENST00000436407:exon3:c.320-1G>A;ENST00000589891:exon3:c.320-1G>A;ENST00000586142:exon2:c.152-1G>A;ENST00000589700:exon2:c.152-1G>A)	.	.	0.99995545544995	0.944
18	43310979	G	C	18	45731014	y	y	splicing	SLC14A1(NM_001146036:exon5:c.152-1G>C;NM_015865:exon4:c.152-1G>C;NM_001128588:exon5:c.320-1G>C;NM_001146037:exon3:c.320-1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.152-1G>C;ENST00000415427:exon5:c.320-1G>C;ENST00000586951:exon5:c.152-1G>C;ENST00000588179:exon5:c.320-1G>C;ENST00000586056:exon3:c.152-1G>C;ENST00000436407:exon3:c.320-1G>C;ENST00000589891:exon3:c.320-1G>C;ENST00000586142:exon2:c.152-1G>C;ENST00000589700:exon2:c.152-1G>C)	.	.	0.99995545544995	0.948
18	43310979	G	T	18	45731014	y	y	splicing	SLC14A1(NM_001146036:exon5:c.152-1G>T;NM_015865:exon4:c.152-1G>T;NM_001128588:exon5:c.320-1G>T;NM_001146037:exon3:c.320-1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.152-1G>T;ENST00000415427:exon5:c.320-1G>T;ENST00000586951:exon5:c.152-1G>T;ENST00000588179:exon5:c.320-1G>T;ENST00000586056:exon3:c.152-1G>T;ENST00000436407:exon3:c.320-1G>T;ENST00000589891:exon3:c.320-1G>T;ENST00000586142:exon2:c.152-1G>T;ENST00000589700:exon2:c.152-1G>T)	.	.	0.99995545544995	0.948
18	43310980	A	C	18	45731015	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.A320C:p.D107A;SLC14A1:NM_001128588:exon5:c.A320C:p.D107A;SLC14A1:NM_001146036:exon5:c.A152C:p.D51A;SLC14A1:NM_015865:exon4:c.A152C:p.D51A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.A152C:p.D51A;ENSG00000141469:ENST00000586142:exon2:c.A152C:p.D51A;ENSG00000141469:ENST00000586951:exon5:c.A152C:p.D51A;ENSG00000141469:ENST00000586056:exon3:c.A152C:p.D51A;ENSG00000141469:ENST00000588179:exon5:c.A320C:p.D107A;ENSG00000141469:ENST00000589891:exon3:c.A320C:p.D107A;ENSG00000141469:ENST00000589700:exon2:c.A152C:p.D51A;ENSG00000141469:ENST00000436407:exon3:c.A320C:p.D107A;ENSG00000141469:ENST00000415427:exon5:c.A320C:p.D107A;	0.853892614516772	0.566
18	43310980	A	G	18	45731015	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.A320G:p.D107G;SLC14A1:NM_001128588:exon5:c.A320G:p.D107G;SLC14A1:NM_001146036:exon5:c.A152G:p.D51G;SLC14A1:NM_015865:exon4:c.A152G:p.D51G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.A152G:p.D51G;ENSG00000141469:ENST00000586142:exon2:c.A152G:p.D51G;ENSG00000141469:ENST00000586951:exon5:c.A152G:p.D51G;ENSG00000141469:ENST00000586056:exon3:c.A152G:p.D51G;ENSG00000141469:ENST00000588179:exon5:c.A320G:p.D107G;ENSG00000141469:ENST00000589891:exon3:c.A320G:p.D107G;ENSG00000141469:ENST00000589700:exon2:c.A152G:p.D51G;ENSG00000141469:ENST00000436407:exon3:c.A320G:p.D107G;ENSG00000141469:ENST00000415427:exon5:c.A320G:p.D107G;	0.00153372169374672	0.008
18	43310980	A	T	18	45731015	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.A320T:p.D107V;SLC14A1:NM_001128588:exon5:c.A320T:p.D107V;SLC14A1:NM_001146036:exon5:c.A152T:p.D51V;SLC14A1:NM_015865:exon4:c.A152T:p.D51V;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.A152T:p.D51V;ENSG00000141469:ENST00000586142:exon2:c.A152T:p.D51V;ENSG00000141469:ENST00000586951:exon5:c.A152T:p.D51V;ENSG00000141469:ENST00000586056:exon3:c.A152T:p.D51V;ENSG00000141469:ENST00000588179:exon5:c.A320T:p.D107V;ENSG00000141469:ENST00000589891:exon3:c.A320T:p.D107V;ENSG00000141469:ENST00000589700:exon2:c.A152T:p.D51V;ENSG00000141469:ENST00000436407:exon3:c.A320T:p.D107V;ENSG00000141469:ENST00000415427:exon5:c.A320T:p.D107V;	0.903433654983913	0.576
18	43310981	C	A	18	45731016	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.C321A:p.D107E;SLC14A1:NM_001128588:exon5:c.C321A:p.D107E;SLC14A1:NM_001146036:exon5:c.C153A:p.D51E;SLC14A1:NM_015865:exon4:c.C153A:p.D51E;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.C153A:p.D51E;ENSG00000141469:ENST00000586142:exon2:c.C153A:p.D51E;ENSG00000141469:ENST00000586951:exon5:c.C153A:p.D51E;ENSG00000141469:ENST00000586056:exon3:c.C153A:p.D51E;ENSG00000141469:ENST00000588179:exon5:c.C321A:p.D107E;ENSG00000141469:ENST00000589891:exon3:c.C321A:p.D107E;ENSG00000141469:ENST00000589700:exon2:c.C153A:p.D51E;ENSG00000141469:ENST00000436407:exon3:c.C321A:p.D107E;ENSG00000141469:ENST00000415427:exon5:c.C321A:p.D107E;	2.70102077217095E-4	0.004
18	43310981	C	G	18	45731016	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.C321G:p.D107E;SLC14A1:NM_001128588:exon5:c.C321G:p.D107E;SLC14A1:NM_001146036:exon5:c.C153G:p.D51E;SLC14A1:NM_015865:exon4:c.C153G:p.D51E;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.C153G:p.D51E;ENSG00000141469:ENST00000586142:exon2:c.C153G:p.D51E;ENSG00000141469:ENST00000586951:exon5:c.C153G:p.D51E;ENSG00000141469:ENST00000586056:exon3:c.C153G:p.D51E;ENSG00000141469:ENST00000588179:exon5:c.C321G:p.D107E;ENSG00000141469:ENST00000589891:exon3:c.C321G:p.D107E;ENSG00000141469:ENST00000589700:exon2:c.C153G:p.D51E;ENSG00000141469:ENST00000436407:exon3:c.C321G:p.D107E;ENSG00000141469:ENST00000415427:exon5:c.C321G:p.D107E;	3.35213692354264E-4	0.014
18	43310981	C	T	18	45731016	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon3:c.C321T:p.D107D;SLC14A1:NM_001128588:exon5:c.C321T:p.D107D;SLC14A1:NM_001146036:exon5:c.C153T:p.D51D;SLC14A1:NM_015865:exon4:c.C153T:p.D51D;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.C153T:p.D51D;ENSG00000141469:ENST00000586142:exon2:c.C153T:p.D51D;ENSG00000141469:ENST00000586951:exon5:c.C153T:p.D51D;ENSG00000141469:ENST00000586056:exon3:c.C153T:p.D51D;ENSG00000141469:ENST00000588179:exon5:c.C321T:p.D107D;ENSG00000141469:ENST00000589891:exon3:c.C321T:p.D107D;ENSG00000141469:ENST00000589700:exon2:c.C153T:p.D51D;ENSG00000141469:ENST00000436407:exon3:c.C321T:p.D107D;ENSG00000141469:ENST00000415427:exon5:c.C321T:p.D107D;	3.87980963856381E-4	0.004
18	43311167	C	A	18	45731202	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.C507A:p.D169E;SLC14A1:NM_001128588:exon5:c.C507A:p.D169E;SLC14A1:NM_001146036:exon5:c.C339A:p.D113E;SLC14A1:NM_015865:exon4:c.C339A:p.D113E;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.C339A:p.D113E;ENSG00000141469:ENST00000586142:exon2:c.C339A:p.D113E;ENSG00000141469:ENST00000587601:exon4:c.C24A:p.D8E;ENSG00000141469:ENST00000590246:exon2:c.C24A:p.D8E;ENSG00000141469:ENST00000586056:exon3:c.C339A:p.D113E;ENSG00000141469:ENST00000588179:exon5:c.C507A:p.D169E;ENSG00000141469:ENST00000589700:exon2:c.C339A:p.D113E;ENSG00000141469:ENST00000402943:exon3:c.C24A:p.D8E;ENSG00000141469:ENST00000436407:exon3:c.C507A:p.D169E;ENSG00000141469:ENST00000415427:exon5:c.C507A:p.D169E;	0.926216910796867	0.826
18	43311167	C	G	18	45731202	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.C507G:p.D169E;SLC14A1:NM_001128588:exon5:c.C507G:p.D169E;SLC14A1:NM_001146036:exon5:c.C339G:p.D113E;SLC14A1:NM_015865:exon4:c.C339G:p.D113E;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.C339G:p.D113E;ENSG00000141469:ENST00000586142:exon2:c.C339G:p.D113E;ENSG00000141469:ENST00000587601:exon4:c.C24G:p.D8E;ENSG00000141469:ENST00000590246:exon2:c.C24G:p.D8E;ENSG00000141469:ENST00000586056:exon3:c.C339G:p.D113E;ENSG00000141469:ENST00000588179:exon5:c.C507G:p.D169E;ENSG00000141469:ENST00000589700:exon2:c.C339G:p.D113E;ENSG00000141469:ENST00000402943:exon3:c.C24G:p.D8E;ENSG00000141469:ENST00000436407:exon3:c.C507G:p.D169E;ENSG00000141469:ENST00000415427:exon5:c.C507G:p.D169E;	0.904450800181141	0.618
18	43311167	C	T	18	45731202	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon3:c.C507T:p.D169D;SLC14A1:NM_001128588:exon5:c.C507T:p.D169D;SLC14A1:NM_001146036:exon5:c.C339T:p.D113D;SLC14A1:NM_015865:exon4:c.C339T:p.D113D;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.C339T:p.D113D;ENSG00000141469:ENST00000586142:exon2:c.C339T:p.D113D;ENSG00000141469:ENST00000587601:exon4:c.C24T:p.D8D;ENSG00000141469:ENST00000590246:exon2:c.C24T:p.D8D;ENSG00000141469:ENST00000586056:exon3:c.C339T:p.D113D;ENSG00000141469:ENST00000588179:exon5:c.C507T:p.D169D;ENSG00000141469:ENST00000589700:exon2:c.C339T:p.D113D;ENSG00000141469:ENST00000402943:exon3:c.C24T:p.D8D;ENSG00000141469:ENST00000436407:exon3:c.C507T:p.D169D;ENSG00000141469:ENST00000415427:exon5:c.C507T:p.D169D;	0.992167349572618	0.788
18	43311168	A	C	18	45731203	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon3:c.A508C:p.R170R;SLC14A1:NM_001128588:exon5:c.A508C:p.R170R;SLC14A1:NM_001146036:exon5:c.A340C:p.R114R;SLC14A1:NM_015865:exon4:c.A340C:p.R114R;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.A340C:p.R114R;ENSG00000141469:ENST00000586142:exon2:c.A340C:p.R114R;ENSG00000141469:ENST00000587601:exon4:c.A25C:p.R9R;ENSG00000141469:ENST00000590246:exon2:c.A25C:p.R9R;ENSG00000141469:ENST00000586056:exon3:c.A340C:p.R114R;ENSG00000141469:ENST00000588179:exon5:c.A508C:p.R170R;ENSG00000141469:ENST00000589700:exon2:c.A340C:p.R114R;ENSG00000141469:ENST00000402943:exon3:c.A25C:p.R9R;ENSG00000141469:ENST00000436407:exon3:c.A508C:p.R170R;ENSG00000141469:ENST00000415427:exon5:c.A508C:p.R170R;	0.995655058900379	0.968
18	43311168	A	G	18	45731203	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.A508G:p.R170G;SLC14A1:NM_001128588:exon5:c.A508G:p.R170G;SLC14A1:NM_001146036:exon5:c.A340G:p.R114G;SLC14A1:NM_015865:exon4:c.A340G:p.R114G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.A340G:p.R114G;ENSG00000141469:ENST00000586142:exon2:c.A340G:p.R114G;ENSG00000141469:ENST00000587601:exon4:c.A25G:p.R9G;ENSG00000141469:ENST00000590246:exon2:c.A25G:p.R9G;ENSG00000141469:ENST00000586056:exon3:c.A340G:p.R114G;ENSG00000141469:ENST00000588179:exon5:c.A508G:p.R170G;ENSG00000141469:ENST00000589700:exon2:c.A340G:p.R114G;ENSG00000141469:ENST00000402943:exon3:c.A25G:p.R9G;ENSG00000141469:ENST00000436407:exon3:c.A508G:p.R170G;ENSG00000141469:ENST00000415427:exon5:c.A508G:p.R170G;	0.999790670568932	0.992
18	43311168	A	T	18	45731203	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.A508T:p.R170W;SLC14A1:NM_001128588:exon5:c.A508T:p.R170W;SLC14A1:NM_001146036:exon5:c.A340T:p.R114W;SLC14A1:NM_015865:exon4:c.A340T:p.R114W;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.A340T:p.R114W;ENSG00000141469:ENST00000586142:exon2:c.A340T:p.R114W;ENSG00000141469:ENST00000587601:exon4:c.A25T:p.R9W;ENSG00000141469:ENST00000590246:exon2:c.A25T:p.R9W;ENSG00000141469:ENST00000586056:exon3:c.A340T:p.R114W;ENSG00000141469:ENST00000588179:exon5:c.A508T:p.R170W;ENSG00000141469:ENST00000589700:exon2:c.A340T:p.R114W;ENSG00000141469:ENST00000402943:exon3:c.A25T:p.R9W;ENSG00000141469:ENST00000436407:exon3:c.A508T:p.R170W;ENSG00000141469:ENST00000415427:exon5:c.A508T:p.R170W;	0.999813068842766	0.984
18	43311169	G	A	18	45731204	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.G509A:p.R170K;SLC14A1:NM_001128588:exon5:c.G509A:p.R170K;SLC14A1:NM_001146036:exon5:c.G341A:p.R114K;SLC14A1:NM_015865:exon4:c.G341A:p.R114K;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.G341A:p.R114K;ENSG00000141469:ENST00000586142:exon2:c.G341A:p.R114K;ENSG00000141469:ENST00000587601:exon4:c.G26A:p.R9K;ENSG00000141469:ENST00000590246:exon2:c.G26A:p.R9K;ENSG00000141469:ENST00000586056:exon3:c.G341A:p.R114K;ENSG00000141469:ENST00000588179:exon5:c.G509A:p.R170K;ENSG00000141469:ENST00000589700:exon2:c.G341A:p.R114K;ENSG00000141469:ENST00000402943:exon3:c.G26A:p.R9K;ENSG00000141469:ENST00000436407:exon3:c.G509A:p.R170K;ENSG00000141469:ENST00000415427:exon5:c.G509A:p.R170K;	0.999959616305921	0.982
18	43311169	G	C	18	45731204	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.G509C:p.R170T;SLC14A1:NM_001128588:exon5:c.G509C:p.R170T;SLC14A1:NM_001146036:exon5:c.G341C:p.R114T;SLC14A1:NM_015865:exon4:c.G341C:p.R114T;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.G341C:p.R114T;ENSG00000141469:ENST00000586142:exon2:c.G341C:p.R114T;ENSG00000141469:ENST00000587601:exon4:c.G26C:p.R9T;ENSG00000141469:ENST00000590246:exon2:c.G26C:p.R9T;ENSG00000141469:ENST00000586056:exon3:c.G341C:p.R114T;ENSG00000141469:ENST00000588179:exon5:c.G509C:p.R170T;ENSG00000141469:ENST00000589700:exon2:c.G341C:p.R114T;ENSG00000141469:ENST00000402943:exon3:c.G26C:p.R9T;ENSG00000141469:ENST00000436407:exon3:c.G509C:p.R170T;ENSG00000141469:ENST00000415427:exon5:c.G509C:p.R170T;	0.999992690450583	0.996
18	43311169	G	T	18	45731204	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon3:c.G509T:p.R170M;SLC14A1:NM_001128588:exon5:c.G509T:p.R170M;SLC14A1:NM_001146036:exon5:c.G341T:p.R114M;SLC14A1:NM_015865:exon4:c.G341T:p.R114M;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon4:c.G341T:p.R114M;ENSG00000141469:ENST00000586142:exon2:c.G341T:p.R114M;ENSG00000141469:ENST00000587601:exon4:c.G26T:p.R9M;ENSG00000141469:ENST00000590246:exon2:c.G26T:p.R9M;ENSG00000141469:ENST00000586056:exon3:c.G341T:p.R114M;ENSG00000141469:ENST00000588179:exon5:c.G509T:p.R170M;ENSG00000141469:ENST00000589700:exon2:c.G341T:p.R114M;ENSG00000141469:ENST00000402943:exon3:c.G26T:p.R9M;ENSG00000141469:ENST00000436407:exon3:c.G509T:p.R170M;ENSG00000141469:ENST00000415427:exon5:c.G509T:p.R170M;	0.999985007705141	0.984
18	43311170	G	A	18	45731205	y	y	splicing	SLC14A1(NM_001146036:exon5:c.341+1G>A;NM_015865:exon4:c.341+1G>A;NM_001128588:exon5:c.509+1G>A;NM_001146037:exon3:c.509+1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.341+1G>A;ENST00000587601:exon4:c.26+1G>A;ENST00000402943:exon3:c.26+1G>A;ENST00000415427:exon5:c.509+1G>A;ENST00000588179:exon5:c.509+1G>A;ENST00000586056:exon3:c.341+1G>A;ENST00000436407:exon3:c.509+1G>A;ENST00000590246:exon2:c.26+1G>A;ENST00000586142:exon2:c.341+1G>A;ENST00000589700:exon2:c.341+1G>A;ENST00000590377:exon1:c.64+1G>A)	.	.	0.999990361384395	0.938
18	43311170	G	C	18	45731205	y	y	splicing	SLC14A1(NM_001146036:exon5:c.341+1G>C;NM_015865:exon4:c.341+1G>C;NM_001128588:exon5:c.509+1G>C;NM_001146037:exon3:c.509+1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.341+1G>C;ENST00000587601:exon4:c.26+1G>C;ENST00000402943:exon3:c.26+1G>C;ENST00000415427:exon5:c.509+1G>C;ENST00000588179:exon5:c.509+1G>C;ENST00000586056:exon3:c.341+1G>C;ENST00000436407:exon3:c.509+1G>C;ENST00000590246:exon2:c.26+1G>C;ENST00000586142:exon2:c.341+1G>C;ENST00000589700:exon2:c.341+1G>C;ENST00000590377:exon1:c.64+1G>C)	.	.	0.999990361384395	0.938
18	43311170	G	T	18	45731205	y	y	splicing	SLC14A1(NM_001146036:exon5:c.341+1G>T;NM_015865:exon4:c.341+1G>T;NM_001128588:exon5:c.509+1G>T;NM_001146037:exon3:c.509+1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.341+1G>T;ENST00000587601:exon4:c.26+1G>T;ENST00000402943:exon3:c.26+1G>T;ENST00000415427:exon5:c.509+1G>T;ENST00000588179:exon5:c.509+1G>T;ENST00000586056:exon3:c.341+1G>T;ENST00000436407:exon3:c.509+1G>T;ENST00000590246:exon2:c.26+1G>T;ENST00000586142:exon2:c.341+1G>T;ENST00000589700:exon2:c.341+1G>T;ENST00000590377:exon1:c.64+1G>T)	.	.	0.999990361384395	0.938
18	43311171	T	A	18	45731206	y	y	splicing	SLC14A1(NM_001146036:exon5:c.341+2T>A;NM_015865:exon4:c.341+2T>A;NM_001128588:exon5:c.509+2T>A;NM_001146037:exon3:c.509+2T>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.341+2T>A;ENST00000587601:exon4:c.26+2T>A;ENST00000402943:exon3:c.26+2T>A;ENST00000415427:exon5:c.509+2T>A;ENST00000588179:exon5:c.509+2T>A;ENST00000586056:exon3:c.341+2T>A;ENST00000436407:exon3:c.509+2T>A;ENST00000590246:exon2:c.26+2T>A;ENST00000586142:exon2:c.341+2T>A;ENST00000589700:exon2:c.341+2T>A;ENST00000590377:exon1:c.64+2T>A)	.	.	0.999988247793601	0.932
18	43311171	T	C	18	45731206	y	y	splicing	SLC14A1(NM_001146036:exon5:c.341+2T>C;NM_015865:exon4:c.341+2T>C;NM_001128588:exon5:c.509+2T>C;NM_001146037:exon3:c.509+2T>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.341+2T>C;ENST00000587601:exon4:c.26+2T>C;ENST00000402943:exon3:c.26+2T>C;ENST00000415427:exon5:c.509+2T>C;ENST00000588179:exon5:c.509+2T>C;ENST00000586056:exon3:c.341+2T>C;ENST00000436407:exon3:c.509+2T>C;ENST00000590246:exon2:c.26+2T>C;ENST00000586142:exon2:c.341+2T>C;ENST00000589700:exon2:c.341+2T>C;ENST00000590377:exon1:c.64+2T>C)	.	.	0.994877988051647	0.72
18	43311171	T	G	18	45731206	y	y	splicing	SLC14A1(NM_001146036:exon5:c.341+2T>G;NM_015865:exon4:c.341+2T>G;NM_001128588:exon5:c.509+2T>G;NM_001146037:exon3:c.509+2T>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon4:c.341+2T>G;ENST00000587601:exon4:c.26+2T>G;ENST00000402943:exon3:c.26+2T>G;ENST00000415427:exon5:c.509+2T>G;ENST00000588179:exon5:c.509+2T>G;ENST00000586056:exon3:c.341+2T>G;ENST00000436407:exon3:c.509+2T>G;ENST00000590246:exon2:c.26+2T>G;ENST00000586142:exon2:c.341+2T>G;ENST00000589700:exon2:c.341+2T>G;ENST00000590377:exon1:c.64+2T>G)	.	.	0.999988247793601	0.932
18	43311172	A	C	18	45731207	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.506478332585726	0.518
18	43311172	A	G	18	45731207	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.160277689592654	0.49
18	43311172	A	T	18	45731207	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.892765455475548	0.61
18	43311173	G	A	18	45731208	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.70247991058147E-4	0.074
18	43311173	G	C	18	45731208	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.9447505982729E-4	0.094
18	43311173	G	T	18	45731208	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.44124327391892E-4	0.072
18	43311174	G	A	18	45731209	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.76104999413635	0.598
18	43311174	G	C	18	45731209	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99169369484789	0.786
18	43311174	G	T	18	45731209	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.997223778160662	0.804
18	43311175	T	A	18	45731210	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.51107275699861E-4	0.032
18	43311175	T	C	18	45731210	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00144042287005175	0.062
18	43311175	T	G	18	45731210	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.28877096089692E-4	0.032
18	43311176	G	A	18	45731211	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.44312574922614E-5	0.002
18	43311176	G	C	18	45731211	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.44312574922614E-5	0.0
18	43311176	G	T	18	45731211	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.7284097447437E-5	0.004
18	43311177	T	A	18	45731212	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.66886400449805E-5	0.0
18	43311177	T	C	18	45731212	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.61944226810758E-5	0.0
18	43311177	T	G	18	45731212	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.84056958901664E-5	0.0
18	43314227	C	A	18	45734262	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00280490490094703	0.08
18	43314227	C	G	18	45734262	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00236845120199706	0.062
18	43314227	C	T	18	45734262	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.07327180259077E-5	0.006
18	43314228	T	A	18	45734263	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00729614553440914	0.144
18	43314228	T	C	18	45734263	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.72294844397115E-4	0.05
18	43314228	T	G	18	45734263	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00573959778867608	0.208
18	43314229	T	A	18	45734264	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99983907973791	0.93
18	43314229	T	C	18	45734264	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.34630404407066E-5	0.0
18	43314229	T	G	18	45734264	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00112842166252308	0.102
18	43314230	G	A	18	45734265	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.10345973438598E-4	0.01
18	43314230	G	C	18	45734265	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.96600458405347E-5	0.002
18	43314230	G	T	18	45734265	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.09268094039254E-5	0.0
18	43314231	C	A	18	45734266	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.18616438709712E-4	0.07
18	43314231	C	G	18	45734266	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.25064915909649E-4	0.046
18	43314231	C	T	18	45734266	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.72527568150953E-5	0.0
18	43314232	C	A	18	45734267	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0164586581697567	0.106
18	43314232	C	G	18	45734267	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00485101596822392	0.122
18	43314232	C	T	18	45734267	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.36369179086301E-4	0.006
18	43314233	C	A	18	45734268	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00183897009917665	0.116
18	43314233	C	G	18	45734268	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00143500101486058	0.114
18	43314233	C	T	18	45734268	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	9.84979886711096E-5	0.014
18	43314234	C	A	18	45734269	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00270769649592552	0.058
18	43314234	C	G	18	45734269	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00221329643469526	0.064
18	43314234	C	T	18	45734269	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.68484937158555E-5	0.004
18	43314235	A	C	18	45734270	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.03944032936138E-6	0.0
18	43314235	A	G	18	45734270	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.78572553276416E-5	0.002
18	43314235	A	T	18	45734270	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.30549512479976E-5	0.02
18	43314236	C	A	18	45734271	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.845786887786049	0.612
18	43314236	C	G	18	45734271	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99961479016669	0.958
18	43314236	C	T	18	45734271	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0133802531742346	0.184
18	43314237	A	C	18	45734272	y	y	splicing	SLC14A1(NM_001146036:exon6:c.342-2A>C;NM_015865:exon5:c.342-2A>C;NM_001128588:exon6:c.510-2A>C;NM_001146037:exon4:c.510-2A>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.342-2A>C;ENST00000587601:exon5:c.27-2A>C;ENST00000502059:exon4:c.18-2A>C;ENST00000402943:exon4:c.27-2A>C;ENST00000415427:exon6:c.510-2A>C;ENST00000588179:exon6:c.510-2A>C;ENST00000586056:exon4:c.342-2A>C;ENST00000436407:exon4:c.510-2A>C;ENST00000590246:exon3:c.27-2A>C;ENST00000586142:exon3:c.342-2A>C;ENST00000589700:exon3:c.342-2A>C;ENST00000590377:exon2:c.65-2A>C)	.	.	0.999946188727699	0.94
18	43314237	A	G	18	45734272	y	y	splicing	SLC14A1(NM_001146036:exon6:c.342-2A>G;NM_015865:exon5:c.342-2A>G;NM_001128588:exon6:c.510-2A>G;NM_001146037:exon4:c.510-2A>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.342-2A>G;ENST00000587601:exon5:c.27-2A>G;ENST00000502059:exon4:c.18-2A>G;ENST00000402943:exon4:c.27-2A>G;ENST00000415427:exon6:c.510-2A>G;ENST00000588179:exon6:c.510-2A>G;ENST00000586056:exon4:c.342-2A>G;ENST00000436407:exon4:c.510-2A>G;ENST00000590246:exon3:c.27-2A>G;ENST00000586142:exon3:c.342-2A>G;ENST00000589700:exon3:c.342-2A>G;ENST00000590377:exon2:c.65-2A>G)	.	.	0.999946188727699	0.94
18	43314237	A	T	18	45734272	y	y	splicing	SLC14A1(NM_001146036:exon6:c.342-2A>T;NM_015865:exon5:c.342-2A>T;NM_001128588:exon6:c.510-2A>T;NM_001146037:exon4:c.510-2A>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.342-2A>T;ENST00000587601:exon5:c.27-2A>T;ENST00000502059:exon4:c.18-2A>T;ENST00000402943:exon4:c.27-2A>T;ENST00000415427:exon6:c.510-2A>T;ENST00000588179:exon6:c.510-2A>T;ENST00000586056:exon4:c.342-2A>T;ENST00000436407:exon4:c.510-2A>T;ENST00000590246:exon3:c.27-2A>T;ENST00000586142:exon3:c.342-2A>T;ENST00000589700:exon3:c.342-2A>T;ENST00000590377:exon2:c.65-2A>T)	.	.	0.999946188727699	0.944
18	43314238	G	A	18	45734273	y	y	splicing	SLC14A1(NM_001146036:exon6:c.342-1G>A;NM_015865:exon5:c.342-1G>A;NM_001128588:exon6:c.510-1G>A;NM_001146037:exon4:c.510-1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.342-1G>A;ENST00000587601:exon5:c.27-1G>A;ENST00000502059:exon4:c.18-1G>A;ENST00000402943:exon4:c.27-1G>A;ENST00000415427:exon6:c.510-1G>A;ENST00000588179:exon6:c.510-1G>A;ENST00000586056:exon4:c.342-1G>A;ENST00000436407:exon4:c.510-1G>A;ENST00000590246:exon3:c.27-1G>A;ENST00000586142:exon3:c.342-1G>A;ENST00000589700:exon3:c.342-1G>A;ENST00000590377:exon2:c.65-1G>A)	.	.	0.999938422912956	0.946
18	43314238	G	C	18	45734273	y	y	splicing	SLC14A1(NM_001146036:exon6:c.342-1G>C;NM_015865:exon5:c.342-1G>C;NM_001128588:exon6:c.510-1G>C;NM_001146037:exon4:c.510-1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.342-1G>C;ENST00000587601:exon5:c.27-1G>C;ENST00000502059:exon4:c.18-1G>C;ENST00000402943:exon4:c.27-1G>C;ENST00000415427:exon6:c.510-1G>C;ENST00000588179:exon6:c.510-1G>C;ENST00000586056:exon4:c.342-1G>C;ENST00000436407:exon4:c.510-1G>C;ENST00000590246:exon3:c.27-1G>C;ENST00000586142:exon3:c.342-1G>C;ENST00000589700:exon3:c.342-1G>C;ENST00000590377:exon2:c.65-1G>C)	.	.	0.999938990645747	0.946
18	43314238	G	T	18	45734273	y	y	splicing	SLC14A1(NM_001146036:exon6:c.342-1G>T;NM_015865:exon5:c.342-1G>T;NM_001128588:exon6:c.510-1G>T;NM_001146037:exon4:c.510-1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.342-1G>T;ENST00000587601:exon5:c.27-1G>T;ENST00000502059:exon4:c.18-1G>T;ENST00000402943:exon4:c.27-1G>T;ENST00000415427:exon6:c.510-1G>T;ENST00000588179:exon6:c.510-1G>T;ENST00000586056:exon4:c.342-1G>T;ENST00000436407:exon4:c.510-1G>T;ENST00000590246:exon3:c.27-1G>T;ENST00000586142:exon3:c.342-1G>T;ENST00000589700:exon3:c.342-1G>T;ENST00000590377:exon2:c.65-1G>T)	.	.	0.999938422912956	0.946
18	43314239	G	A	18	45734274	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon4:c.G510A:p.R170R;SLC14A1:NM_001128588:exon6:c.G510A:p.R170R;SLC14A1:NM_001146036:exon6:c.G342A:p.R114R;SLC14A1:NM_015865:exon5:c.G342A:p.R114R;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.G342A:p.R114R;ENSG00000141469:ENST00000502059:exon4:c.G18A:p.R6R;ENSG00000141469:ENST00000586142:exon3:c.G342A:p.R114R;ENSG00000141469:ENST00000587601:exon5:c.G27A:p.R9R;ENSG00000141469:ENST00000590246:exon3:c.G27A:p.R9R;ENSG00000141469:ENST00000586056:exon4:c.G342A:p.R114R;ENSG00000141469:ENST00000588179:exon6:c.G510A:p.R170R;ENSG00000141469:ENST00000589700:exon3:c.G342A:p.R114R;ENSG00000141469:ENST00000402943:exon4:c.G27A:p.R9R;ENSG00000141469:ENST00000436407:exon4:c.G510A:p.R170R;ENSG00000141469:ENST00000415427:exon6:c.G510A:p.R170R;	0.00908607227072593	0.252
18	43314239	G	C	18	45734274	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.G510C:p.R170S;SLC14A1:NM_001128588:exon6:c.G510C:p.R170S;SLC14A1:NM_001146036:exon6:c.G342C:p.R114S;SLC14A1:NM_015865:exon5:c.G342C:p.R114S;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.G342C:p.R114S;ENSG00000141469:ENST00000502059:exon4:c.G18C:p.R6S;ENSG00000141469:ENST00000586142:exon3:c.G342C:p.R114S;ENSG00000141469:ENST00000587601:exon5:c.G27C:p.R9S;ENSG00000141469:ENST00000590246:exon3:c.G27C:p.R9S;ENSG00000141469:ENST00000586056:exon4:c.G342C:p.R114S;ENSG00000141469:ENST00000588179:exon6:c.G510C:p.R170S;ENSG00000141469:ENST00000589700:exon3:c.G342C:p.R114S;ENSG00000141469:ENST00000402943:exon4:c.G27C:p.R9S;ENSG00000141469:ENST00000436407:exon4:c.G510C:p.R170S;ENSG00000141469:ENST00000415427:exon6:c.G510C:p.R170S;	0.409771322705948	0.664
18	43314239	G	T	18	45734274	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.G510T:p.R170S;SLC14A1:NM_001128588:exon6:c.G510T:p.R170S;SLC14A1:NM_001146036:exon6:c.G342T:p.R114S;SLC14A1:NM_015865:exon5:c.G342T:p.R114S;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.G342T:p.R114S;ENSG00000141469:ENST00000502059:exon4:c.G18T:p.R6S;ENSG00000141469:ENST00000586142:exon3:c.G342T:p.R114S;ENSG00000141469:ENST00000587601:exon5:c.G27T:p.R9S;ENSG00000141469:ENST00000590246:exon3:c.G27T:p.R9S;ENSG00000141469:ENST00000586056:exon4:c.G342T:p.R114S;ENSG00000141469:ENST00000588179:exon6:c.G510T:p.R170S;ENSG00000141469:ENST00000589700:exon3:c.G342T:p.R114S;ENSG00000141469:ENST00000402943:exon4:c.G27T:p.R9S;ENSG00000141469:ENST00000436407:exon4:c.G510T:p.R170S;ENSG00000141469:ENST00000415427:exon6:c.G510T:p.R170S;	0.909407515704042	0.768
18	43314240	T	A	18	45734275	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.T511A:p.S171T;SLC14A1:NM_001128588:exon6:c.T511A:p.S171T;SLC14A1:NM_001146036:exon6:c.T343A:p.S115T;SLC14A1:NM_015865:exon5:c.T343A:p.S115T;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T343A:p.S115T;ENSG00000141469:ENST00000502059:exon4:c.T19A:p.S7T;ENSG00000141469:ENST00000586142:exon3:c.T343A:p.S115T;ENSG00000141469:ENST00000587601:exon5:c.T28A:p.S10T;ENSG00000141469:ENST00000590246:exon3:c.T28A:p.S10T;ENSG00000141469:ENST00000586056:exon4:c.T343A:p.S115T;ENSG00000141469:ENST00000588179:exon6:c.T511A:p.S171T;ENSG00000141469:ENST00000589700:exon3:c.T343A:p.S115T;ENSG00000141469:ENST00000402943:exon4:c.T28A:p.S10T;ENSG00000141469:ENST00000436407:exon4:c.T511A:p.S171T;ENSG00000141469:ENST00000415427:exon6:c.T511A:p.S171T;	0.178112131168371	0.372
18	43314240	T	C	18	45734275	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.T511C:p.S171P;SLC14A1:NM_001128588:exon6:c.T511C:p.S171P;SLC14A1:NM_001146036:exon6:c.T343C:p.S115P;SLC14A1:NM_015865:exon5:c.T343C:p.S115P;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T343C:p.S115P;ENSG00000141469:ENST00000502059:exon4:c.T19C:p.S7P;ENSG00000141469:ENST00000586142:exon3:c.T343C:p.S115P;ENSG00000141469:ENST00000587601:exon5:c.T28C:p.S10P;ENSG00000141469:ENST00000590246:exon3:c.T28C:p.S10P;ENSG00000141469:ENST00000586056:exon4:c.T343C:p.S115P;ENSG00000141469:ENST00000588179:exon6:c.T511C:p.S171P;ENSG00000141469:ENST00000589700:exon3:c.T343C:p.S115P;ENSG00000141469:ENST00000402943:exon4:c.T28C:p.S10P;ENSG00000141469:ENST00000436407:exon4:c.T511C:p.S171P;ENSG00000141469:ENST00000415427:exon6:c.T511C:p.S171P;	0.0971590659539977	0.282
18	43314240	T	G	18	45734275	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.T511G:p.S171A;SLC14A1:NM_001128588:exon6:c.T511G:p.S171A;SLC14A1:NM_001146036:exon6:c.T343G:p.S115A;SLC14A1:NM_015865:exon5:c.T343G:p.S115A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T343G:p.S115A;ENSG00000141469:ENST00000502059:exon4:c.T19G:p.S7A;ENSG00000141469:ENST00000586142:exon3:c.T343G:p.S115A;ENSG00000141469:ENST00000587601:exon5:c.T28G:p.S10A;ENSG00000141469:ENST00000590246:exon3:c.T28G:p.S10A;ENSG00000141469:ENST00000586056:exon4:c.T343G:p.S115A;ENSG00000141469:ENST00000588179:exon6:c.T511G:p.S171A;ENSG00000141469:ENST00000589700:exon3:c.T343G:p.S115A;ENSG00000141469:ENST00000402943:exon4:c.T28G:p.S10A;ENSG00000141469:ENST00000436407:exon4:c.T511G:p.S171A;ENSG00000141469:ENST00000415427:exon6:c.T511G:p.S171A;	8.76389707559528E-4	0.02
18	43314365	T	A	18	45734400	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon4:c.T636A:p.T212T;SLC14A1:NM_001128588:exon6:c.T636A:p.T212T;SLC14A1:NM_001146036:exon6:c.T468A:p.T156T;SLC14A1:NM_015865:exon5:c.T468A:p.T156T;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T468A:p.T156T;ENSG00000141469:ENST00000502059:exon4:c.T144A:p.T48T;ENSG00000141469:ENST00000535474:exon3:c.T72A:p.T24T;ENSG00000141469:ENST00000586142:exon3:c.T468A:p.T156T;ENSG00000141469:ENST00000589322:exon2:c.T72A:p.T24T;ENSG00000141469:ENST00000590246:exon3:c.T153A:p.T51T;ENSG00000141469:ENST00000588179:exon6:c.T636A:p.T212T;ENSG00000141469:ENST00000589700:exon3:c.T468A:p.T156T;ENSG00000141469:ENST00000402943:exon4:c.T153A:p.T51T;ENSG00000141469:ENST00000436407:exon4:c.T636A:p.T212T;ENSG00000141469:ENST00000415427:exon6:c.T636A:p.T212T;	1.51272006072004E-4	0.024
18	43314365	T	C	18	45734400	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon4:c.T636C:p.T212T;SLC14A1:NM_001128588:exon6:c.T636C:p.T212T;SLC14A1:NM_001146036:exon6:c.T468C:p.T156T;SLC14A1:NM_015865:exon5:c.T468C:p.T156T;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T468C:p.T156T;ENSG00000141469:ENST00000502059:exon4:c.T144C:p.T48T;ENSG00000141469:ENST00000535474:exon3:c.T72C:p.T24T;ENSG00000141469:ENST00000586142:exon3:c.T468C:p.T156T;ENSG00000141469:ENST00000589322:exon2:c.T72C:p.T24T;ENSG00000141469:ENST00000590246:exon3:c.T153C:p.T51T;ENSG00000141469:ENST00000588179:exon6:c.T636C:p.T212T;ENSG00000141469:ENST00000589700:exon3:c.T468C:p.T156T;ENSG00000141469:ENST00000402943:exon4:c.T153C:p.T51T;ENSG00000141469:ENST00000436407:exon4:c.T636C:p.T212T;ENSG00000141469:ENST00000415427:exon6:c.T636C:p.T212T;	1.77405732848496E-4	0.058
18	43314365	T	G	18	45734400	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon4:c.T636G:p.T212T;SLC14A1:NM_001128588:exon6:c.T636G:p.T212T;SLC14A1:NM_001146036:exon6:c.T468G:p.T156T;SLC14A1:NM_015865:exon5:c.T468G:p.T156T;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T468G:p.T156T;ENSG00000141469:ENST00000502059:exon4:c.T144G:p.T48T;ENSG00000141469:ENST00000535474:exon3:c.T72G:p.T24T;ENSG00000141469:ENST00000586142:exon3:c.T468G:p.T156T;ENSG00000141469:ENST00000589322:exon2:c.T72G:p.T24T;ENSG00000141469:ENST00000590246:exon3:c.T153G:p.T51T;ENSG00000141469:ENST00000588179:exon6:c.T636G:p.T212T;ENSG00000141469:ENST00000589700:exon3:c.T468G:p.T156T;ENSG00000141469:ENST00000402943:exon4:c.T153G:p.T51T;ENSG00000141469:ENST00000436407:exon4:c.T636G:p.T212T;ENSG00000141469:ENST00000415427:exon6:c.T636G:p.T212T;	4.55370518586514E-4	0.104
18	43314366	T	A	18	45734401	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.T637A:p.C213S;SLC14A1:NM_001128588:exon6:c.T637A:p.C213S;SLC14A1:NM_001146036:exon6:c.T469A:p.C157S;SLC14A1:NM_015865:exon5:c.T469A:p.C157S;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T469A:p.C157S;ENSG00000141469:ENST00000502059:exon4:c.T145A:p.C49S;ENSG00000141469:ENST00000535474:exon3:c.T73A:p.C25S;ENSG00000141469:ENST00000586142:exon3:c.T469A:p.C157S;ENSG00000141469:ENST00000589322:exon2:c.T73A:p.C25S;ENSG00000141469:ENST00000590246:exon3:c.T154A:p.C52S;ENSG00000141469:ENST00000588179:exon6:c.T637A:p.C213S;ENSG00000141469:ENST00000589700:exon3:c.T469A:p.C157S;ENSG00000141469:ENST00000402943:exon4:c.T154A:p.C52S;ENSG00000141469:ENST00000436407:exon4:c.T637A:p.C213S;ENSG00000141469:ENST00000415427:exon6:c.T637A:p.C213S;	0.608260297727093	0.612
18	43314366	T	C	18	45734401	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.T637C:p.C213R;SLC14A1:NM_001128588:exon6:c.T637C:p.C213R;SLC14A1:NM_001146036:exon6:c.T469C:p.C157R;SLC14A1:NM_015865:exon5:c.T469C:p.C157R;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T469C:p.C157R;ENSG00000141469:ENST00000502059:exon4:c.T145C:p.C49R;ENSG00000141469:ENST00000535474:exon3:c.T73C:p.C25R;ENSG00000141469:ENST00000586142:exon3:c.T469C:p.C157R;ENSG00000141469:ENST00000589322:exon2:c.T73C:p.C25R;ENSG00000141469:ENST00000590246:exon3:c.T154C:p.C52R;ENSG00000141469:ENST00000588179:exon6:c.T637C:p.C213R;ENSG00000141469:ENST00000589700:exon3:c.T469C:p.C157R;ENSG00000141469:ENST00000402943:exon4:c.T154C:p.C52R;ENSG00000141469:ENST00000436407:exon4:c.T637C:p.C213R;ENSG00000141469:ENST00000415427:exon6:c.T637C:p.C213R;	0.920964595702892	0.864
18	43314366	T	G	18	45734401	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.T637G:p.C213G;SLC14A1:NM_001128588:exon6:c.T637G:p.C213G;SLC14A1:NM_001146036:exon6:c.T469G:p.C157G;SLC14A1:NM_015865:exon5:c.T469G:p.C157G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.T469G:p.C157G;ENSG00000141469:ENST00000502059:exon4:c.T145G:p.C49G;ENSG00000141469:ENST00000535474:exon3:c.T73G:p.C25G;ENSG00000141469:ENST00000586142:exon3:c.T469G:p.C157G;ENSG00000141469:ENST00000589322:exon2:c.T73G:p.C25G;ENSG00000141469:ENST00000590246:exon3:c.T154G:p.C52G;ENSG00000141469:ENST00000588179:exon6:c.T637G:p.C213G;ENSG00000141469:ENST00000589700:exon3:c.T469G:p.C157G;ENSG00000141469:ENST00000402943:exon4:c.T154G:p.C52G;ENSG00000141469:ENST00000436407:exon4:c.T637G:p.C213G;ENSG00000141469:ENST00000415427:exon6:c.T637G:p.C213G;	0.78562465619337	0.862
18	43314367	G	A	18	45734402	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.G638A:p.C213Y;SLC14A1:NM_001128588:exon6:c.G638A:p.C213Y;SLC14A1:NM_001146036:exon6:c.G470A:p.C157Y;SLC14A1:NM_015865:exon5:c.G470A:p.C157Y;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.G470A:p.C157Y;ENSG00000141469:ENST00000502059:exon4:c.G146A:p.C49Y;ENSG00000141469:ENST00000535474:exon3:c.G74A:p.C25Y;ENSG00000141469:ENST00000586142:exon3:c.G470A:p.C157Y;ENSG00000141469:ENST00000589322:exon2:c.G74A:p.C25Y;ENSG00000141469:ENST00000590246:exon3:c.G155A:p.C52Y;ENSG00000141469:ENST00000588179:exon6:c.G638A:p.C213Y;ENSG00000141469:ENST00000589700:exon3:c.G470A:p.C157Y;ENSG00000141469:ENST00000402943:exon4:c.G155A:p.C52Y;ENSG00000141469:ENST00000436407:exon4:c.G638A:p.C213Y;ENSG00000141469:ENST00000415427:exon6:c.G638A:p.C213Y;	0.999883581339919	0.988
18	43314367	G	C	18	45734402	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.G638C:p.C213S;SLC14A1:NM_001128588:exon6:c.G638C:p.C213S;SLC14A1:NM_001146036:exon6:c.G470C:p.C157S;SLC14A1:NM_015865:exon5:c.G470C:p.C157S;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.G470C:p.C157S;ENSG00000141469:ENST00000502059:exon4:c.G146C:p.C49S;ENSG00000141469:ENST00000535474:exon3:c.G74C:p.C25S;ENSG00000141469:ENST00000586142:exon3:c.G470C:p.C157S;ENSG00000141469:ENST00000589322:exon2:c.G74C:p.C25S;ENSG00000141469:ENST00000590246:exon3:c.G155C:p.C52S;ENSG00000141469:ENST00000588179:exon6:c.G638C:p.C213S;ENSG00000141469:ENST00000589700:exon3:c.G470C:p.C157S;ENSG00000141469:ENST00000402943:exon4:c.G155C:p.C52S;ENSG00000141469:ENST00000436407:exon4:c.G638C:p.C213S;ENSG00000141469:ENST00000415427:exon6:c.G638C:p.C213S;	0.99994496149742	0.968
18	43314367	G	T	18	45734402	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon4:c.G638T:p.C213F;SLC14A1:NM_001128588:exon6:c.G638T:p.C213F;SLC14A1:NM_001146036:exon6:c.G470T:p.C157F;SLC14A1:NM_015865:exon5:c.G470T:p.C157F;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon5:c.G470T:p.C157F;ENSG00000141469:ENST00000502059:exon4:c.G146T:p.C49F;ENSG00000141469:ENST00000535474:exon3:c.G74T:p.C25F;ENSG00000141469:ENST00000586142:exon3:c.G470T:p.C157F;ENSG00000141469:ENST00000589322:exon2:c.G74T:p.C25F;ENSG00000141469:ENST00000590246:exon3:c.G155T:p.C52F;ENSG00000141469:ENST00000588179:exon6:c.G638T:p.C213F;ENSG00000141469:ENST00000589700:exon3:c.G470T:p.C157F;ENSG00000141469:ENST00000402943:exon4:c.G155T:p.C52F;ENSG00000141469:ENST00000436407:exon4:c.G638T:p.C213F;ENSG00000141469:ENST00000415427:exon6:c.G638T:p.C213F;	0.999799086612297	0.832
18	43314368	G	A	18	45734403	y	y	splicing	SLC14A1(NM_001146036:exon6:c.470+1G>A;NM_015865:exon5:c.470+1G>A;NM_001128588:exon6:c.638+1G>A;NM_001146037:exon4:c.638+1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.470+1G>A;ENST00000502059:exon4:c.146+1G>A;ENST00000402943:exon4:c.155+1G>A;ENST00000535474:exon3:c.74+1G>A;ENST00000415427:exon6:c.638+1G>A;ENST00000589322:exon2:c.74+1G>A;ENST00000588179:exon6:c.638+1G>A;ENST00000436407:exon4:c.638+1G>A;ENST00000590246:exon3:c.155+1G>A;ENST00000586142:exon3:c.470+1G>A;ENST00000589700:exon3:c.470+1G>A;ENST00000590377:exon2:c.193+1G>A)	.	.	0.999985532734767	0.936
18	43314368	G	C	18	45734403	y	y	splicing	SLC14A1(NM_001146036:exon6:c.470+1G>C;NM_015865:exon5:c.470+1G>C;NM_001128588:exon6:c.638+1G>C;NM_001146037:exon4:c.638+1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.470+1G>C;ENST00000502059:exon4:c.146+1G>C;ENST00000402943:exon4:c.155+1G>C;ENST00000535474:exon3:c.74+1G>C;ENST00000415427:exon6:c.638+1G>C;ENST00000589322:exon2:c.74+1G>C;ENST00000588179:exon6:c.638+1G>C;ENST00000436407:exon4:c.638+1G>C;ENST00000590246:exon3:c.155+1G>C;ENST00000586142:exon3:c.470+1G>C;ENST00000589700:exon3:c.470+1G>C;ENST00000590377:exon2:c.193+1G>C)	.	.	0.999985532734767	0.936
18	43314368	G	T	18	45734403	y	y	splicing	SLC14A1(NM_001146036:exon6:c.470+1G>T;NM_015865:exon5:c.470+1G>T;NM_001128588:exon6:c.638+1G>T;NM_001146037:exon4:c.638+1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.470+1G>T;ENST00000502059:exon4:c.146+1G>T;ENST00000402943:exon4:c.155+1G>T;ENST00000535474:exon3:c.74+1G>T;ENST00000415427:exon6:c.638+1G>T;ENST00000589322:exon2:c.74+1G>T;ENST00000588179:exon6:c.638+1G>T;ENST00000436407:exon4:c.638+1G>T;ENST00000590246:exon3:c.155+1G>T;ENST00000586142:exon3:c.470+1G>T;ENST00000589700:exon3:c.470+1G>T;ENST00000590377:exon2:c.193+1G>T)	.	.	0.999985532734767	0.936
18	43314369	T	A	18	45734404	y	y	splicing	SLC14A1(NM_001146036:exon6:c.470+2T>A;NM_015865:exon5:c.470+2T>A;NM_001128588:exon6:c.638+2T>A;NM_001146037:exon4:c.638+2T>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.470+2T>A;ENST00000502059:exon4:c.146+2T>A;ENST00000402943:exon4:c.155+2T>A;ENST00000535474:exon3:c.74+2T>A;ENST00000415427:exon6:c.638+2T>A;ENST00000589322:exon2:c.74+2T>A;ENST00000588179:exon6:c.638+2T>A;ENST00000436407:exon4:c.638+2T>A;ENST00000590246:exon3:c.155+2T>A;ENST00000586142:exon3:c.470+2T>A;ENST00000589700:exon3:c.470+2T>A;ENST00000590377:exon2:c.193+2T>A)	.	.	0.999988247793601	0.928
18	43314369	T	C	18	45734404	y	y	splicing	SLC14A1(NM_001146036:exon6:c.470+2T>C;NM_015865:exon5:c.470+2T>C;NM_001128588:exon6:c.638+2T>C;NM_001146037:exon4:c.638+2T>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.470+2T>C;ENST00000502059:exon4:c.146+2T>C;ENST00000402943:exon4:c.155+2T>C;ENST00000535474:exon3:c.74+2T>C;ENST00000415427:exon6:c.638+2T>C;ENST00000589322:exon2:c.74+2T>C;ENST00000588179:exon6:c.638+2T>C;ENST00000436407:exon4:c.638+2T>C;ENST00000590246:exon3:c.155+2T>C;ENST00000586142:exon3:c.470+2T>C;ENST00000589700:exon3:c.470+2T>C;ENST00000590377:exon2:c.193+2T>C)	.	.	0.99340600729494	0.636
18	43314369	T	G	18	45734404	y	y	splicing	SLC14A1(NM_001146036:exon6:c.470+2T>G;NM_015865:exon5:c.470+2T>G;NM_001128588:exon6:c.638+2T>G;NM_001146037:exon4:c.638+2T>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon5:c.470+2T>G;ENST00000502059:exon4:c.146+2T>G;ENST00000402943:exon4:c.155+2T>G;ENST00000535474:exon3:c.74+2T>G;ENST00000415427:exon6:c.638+2T>G;ENST00000589322:exon2:c.74+2T>G;ENST00000588179:exon6:c.638+2T>G;ENST00000436407:exon4:c.638+2T>G;ENST00000590246:exon3:c.155+2T>G;ENST00000586142:exon3:c.470+2T>G;ENST00000589700:exon3:c.470+2T>G;ENST00000590377:exon2:c.193+2T>G)	.	.	0.999988247793601	0.928
18	43314370	A	C	18	45734405	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.995644527094346	0.756
18	43314370	A	G	18	45734405	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0987718637254053	0.262
18	43314370	A	T	18	45734405	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.981235357447592	0.706
18	43314371	A	C	18	45734406	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.981653290262118	0.686
18	43314371	A	G	18	45734406	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.993806899348598	0.83
18	43314371	A	T	18	45734406	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999110206876604	0.876
18	43314372	G	A	18	45734407	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.998647084584378	0.988
18	43314372	G	C	18	45734407	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.998016553934768	0.936
18	43314372	G	T	18	45734407	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999585446799521	0.916
18	43314373	T	A	18	45734408	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.316155210862608	0.364
18	43314373	T	C	18	45734408	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.582297347853256	0.446
18	43314373	T	G	18	45734408	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0485441593592484	0.316
18	43314374	T	A	18	45734409	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.73401366462724E-4	0.002
18	43314374	T	C	18	45734409	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.05918261028706E-4	0.0
18	43314374	T	G	18	45734409	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.05918261028706E-4	0.0
18	43314375	A	C	18	45734410	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.15941453541388E-5	0.0
18	43314375	A	G	18	45734410	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.8060894308021E-5	0.002
18	43314375	A	T	18	45734410	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.15941453541388E-5	0.0
18	43316409	T	A	18	45736444	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.2305267050147E-4	0.066
18	43316409	T	C	18	45736444	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.54150898193815E-4	0.016
18	43316409	T	G	18	45736444	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.04175893825024E-4	0.064
18	43316410	T	A	18	45736445	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.732854134508003	0.582
18	43316410	T	C	18	45736445	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0392386275648294	0.134
18	43316410	T	G	18	45736445	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.337884695590754	0.46
18	43316411	C	A	18	45736446	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.04203106169816E-4	0.03
18	43316411	C	G	18	45736446	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.06606052790887E-4	0.03
18	43316411	C	T	18	45736446	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.08630669230358E-5	0.0
18	43316412	T	A	18	45736447	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.745446790214651	0.39
18	43316412	T	C	18	45736447	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.117902803251521	0.198
18	43316412	T	G	18	45736447	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.294380761785741	0.33
18	43316413	T	A	18	45736448	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00169481211871094	0.152
18	43316413	T	C	18	45736448	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.02704732248808E-4	0.0
18	43316413	T	G	18	45736448	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00235439671820754	0.112
18	43316414	T	A	18	45736449	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00219505325892261	0.046
18	43316414	T	C	18	45736449	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.15449809193976E-4	0.058
18	43316414	T	G	18	45736449	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00389701054979463	0.084
18	43316415	T	A	18	45736450	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00899063687119911	0.082
18	43316415	T	C	18	45736450	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.57341510453006E-4	0.098
18	43316415	T	G	18	45736450	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00717225857716882	0.09
18	43316416	T	A	18	45736451	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0542123249609146	0.344
18	43316416	T	C	18	45736451	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00271831085878336	0.126
18	43316416	T	G	18	45736451	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.567031649195578	0.426
18	43316417	T	A	18	45736452	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.3971374064476E-4	0.008
18	43316417	T	C	18	45736452	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.75443920136923E-4	0.014
18	43316417	T	G	18	45736452	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00304974848515689	0.102
18	43316418	T	A	18	45736453	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.35183499071605E-4	0.234
18	43316418	T	C	18	45736453	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.71253120972979E-5	0.018
18	43316418	T	G	18	45736453	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.842709420041769	0.62
18	43316419	A	C	18	45736454	y	y	splicing	SLC14A1(NM_001146036:exon7:c.471-2A>C;NM_015865:exon6:c.471-2A>C;NM_001128588:exon7:c.639-2A>C;NM_001146037:exon5:c.639-2A>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.471-2A>C;ENST00000502059:exon5:c.147-2A>C;ENST00000402943:exon5:c.156-2A>C;ENST00000535474:exon4:c.75-2A>C;ENST00000415427:exon7:c.639-2A>C;ENST00000589322:exon3:c.75-2A>C;ENST00000436407:exon5:c.639-2A>C;ENST00000590246:exon4:c.156-2A>C;ENST00000586142:exon4:c.471-2A>C;ENST00000589700:exon4:c.471-2A>C;ENST00000590377:exon3:c.194-2A>C)	.	.	0.999988247793601	0.926
18	43316419	A	G	18	45736454	y	y	splicing	SLC14A1(NM_001146036:exon7:c.471-2A>G;NM_015865:exon6:c.471-2A>G;NM_001128588:exon7:c.639-2A>G;NM_001146037:exon5:c.639-2A>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.471-2A>G;ENST00000502059:exon5:c.147-2A>G;ENST00000402943:exon5:c.156-2A>G;ENST00000535474:exon4:c.75-2A>G;ENST00000415427:exon7:c.639-2A>G;ENST00000589322:exon3:c.75-2A>G;ENST00000436407:exon5:c.639-2A>G;ENST00000590246:exon4:c.156-2A>G;ENST00000586142:exon4:c.471-2A>G;ENST00000589700:exon4:c.471-2A>G;ENST00000590377:exon3:c.194-2A>G)	.	.	0.999988247793601	0.926
18	43316419	A	T	18	45736454	y	y	splicing	SLC14A1(NM_001146036:exon7:c.471-2A>T;NM_015865:exon6:c.471-2A>T;NM_001128588:exon7:c.639-2A>T;NM_001146037:exon5:c.639-2A>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.471-2A>T;ENST00000502059:exon5:c.147-2A>T;ENST00000402943:exon5:c.156-2A>T;ENST00000535474:exon4:c.75-2A>T;ENST00000415427:exon7:c.639-2A>T;ENST00000589322:exon3:c.75-2A>T;ENST00000436407:exon5:c.639-2A>T;ENST00000590246:exon4:c.156-2A>T;ENST00000586142:exon4:c.471-2A>T;ENST00000589700:exon4:c.471-2A>T;ENST00000590377:exon3:c.194-2A>T)	.	.	0.999988247793601	0.926
18	43316420	G	A	18	45736455	y	y	splicing	SLC14A1(NM_001146036:exon7:c.471-1G>A;NM_015865:exon6:c.471-1G>A;NM_001128588:exon7:c.639-1G>A;NM_001146037:exon5:c.639-1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.471-1G>A;ENST00000502059:exon5:c.147-1G>A;ENST00000402943:exon5:c.156-1G>A;ENST00000535474:exon4:c.75-1G>A;ENST00000415427:exon7:c.639-1G>A;ENST00000589322:exon3:c.75-1G>A;ENST00000436407:exon5:c.639-1G>A;ENST00000590246:exon4:c.156-1G>A;ENST00000586142:exon4:c.471-1G>A;ENST00000589700:exon4:c.471-1G>A;ENST00000590377:exon3:c.194-1G>A)	.	.	0.999985532734767	0.932
18	43316420	G	C	18	45736455	y	y	splicing	SLC14A1(NM_001146036:exon7:c.471-1G>C;NM_015865:exon6:c.471-1G>C;NM_001128588:exon7:c.639-1G>C;NM_001146037:exon5:c.639-1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.471-1G>C;ENST00000502059:exon5:c.147-1G>C;ENST00000402943:exon5:c.156-1G>C;ENST00000535474:exon4:c.75-1G>C;ENST00000415427:exon7:c.639-1G>C;ENST00000589322:exon3:c.75-1G>C;ENST00000436407:exon5:c.639-1G>C;ENST00000590246:exon4:c.156-1G>C;ENST00000586142:exon4:c.471-1G>C;ENST00000589700:exon4:c.471-1G>C;ENST00000590377:exon3:c.194-1G>C)	.	.	0.999985532734767	0.936
18	43316420	G	T	18	45736455	y	y	splicing	SLC14A1(NM_001146036:exon7:c.471-1G>T;NM_015865:exon6:c.471-1G>T;NM_001128588:exon7:c.639-1G>T;NM_001146037:exon5:c.639-1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.471-1G>T;ENST00000502059:exon5:c.147-1G>T;ENST00000402943:exon5:c.156-1G>T;ENST00000535474:exon4:c.75-1G>T;ENST00000415427:exon7:c.639-1G>T;ENST00000589322:exon3:c.75-1G>T;ENST00000436407:exon5:c.639-1G>T;ENST00000590246:exon4:c.156-1G>T;ENST00000586142:exon4:c.471-1G>T;ENST00000589700:exon4:c.471-1G>T;ENST00000590377:exon3:c.194-1G>T)	.	.	0.999985532734767	0.936
18	43316421	C	A	18	45736456	y	y	exonic	SLC14A1	stopgain SNV	SLC14A1:NM_001146037:exon5:c.C639A:p.C213X;SLC14A1:NM_001128588:exon7:c.C639A:p.C213X;SLC14A1:NM_001146036:exon7:c.C471A:p.C157X;SLC14A1:NM_015865:exon6:c.C471A:p.C157X;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000321925:exon6:c.C471A:p.C157X;ENSG00000141469:ENST00000502059:exon5:c.C147A:p.C49X;ENSG00000141469:ENST00000535474:exon4:c.C75A:p.C25X;ENSG00000141469:ENST00000586142:exon4:c.C471A:p.C157X;ENSG00000141469:ENST00000589322:exon3:c.C75A:p.C25X;ENSG00000141469:ENST00000590246:exon4:c.C156A:p.C52X;ENSG00000141469:ENST00000589700:exon4:c.C471A:p.C157X;ENSG00000141469:ENST00000402943:exon5:c.C156A:p.C52X;ENSG00000141469:ENST00000436407:exon5:c.C639A:p.C213X;ENSG00000141469:ENST00000415427:exon7:c.C639A:p.C213X;	8.19345682291888E-5	0.296
18	43316421	C	G	18	45736456	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.C639G:p.C213W;SLC14A1:NM_001128588:exon7:c.C639G:p.C213W;SLC14A1:NM_001146036:exon7:c.C471G:p.C157W;SLC14A1:NM_015865:exon6:c.C471G:p.C157W;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.C471G:p.C157W;ENSG00000141469:ENST00000502059:exon5:c.C147G:p.C49W;ENSG00000141469:ENST00000535474:exon4:c.C75G:p.C25W;ENSG00000141469:ENST00000586142:exon4:c.C471G:p.C157W;ENSG00000141469:ENST00000589322:exon3:c.C75G:p.C25W;ENSG00000141469:ENST00000590246:exon4:c.C156G:p.C52W;ENSG00000141469:ENST00000589700:exon4:c.C471G:p.C157W;ENSG00000141469:ENST00000402943:exon5:c.C156G:p.C52W;ENSG00000141469:ENST00000436407:exon5:c.C639G:p.C213W;ENSG00000141469:ENST00000415427:exon7:c.C639G:p.C213W;	9.07784646840104E-5	0.058
18	43316421	C	T	18	45736456	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon5:c.C639T:p.C213C;SLC14A1:NM_001128588:exon7:c.C639T:p.C213C;SLC14A1:NM_001146036:exon7:c.C471T:p.C157C;SLC14A1:NM_015865:exon6:c.C471T:p.C157C;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.C471T:p.C157C;ENSG00000141469:ENST00000502059:exon5:c.C147T:p.C49C;ENSG00000141469:ENST00000535474:exon4:c.C75T:p.C25C;ENSG00000141469:ENST00000586142:exon4:c.C471T:p.C157C;ENSG00000141469:ENST00000589322:exon3:c.C75T:p.C25C;ENSG00000141469:ENST00000590246:exon4:c.C156T:p.C52C;ENSG00000141469:ENST00000589700:exon4:c.C471T:p.C157C;ENSG00000141469:ENST00000402943:exon5:c.C156T:p.C52C;ENSG00000141469:ENST00000436407:exon5:c.C639T:p.C213C;ENSG00000141469:ENST00000415427:exon7:c.C639T:p.C213C;	5.35572992280871E-5	0.006
18	43316422	C	A	18	45736457	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.C640A:p.P214T;SLC14A1:NM_001128588:exon7:c.C640A:p.P214T;SLC14A1:NM_001146036:exon7:c.C472A:p.P158T;SLC14A1:NM_015865:exon6:c.C472A:p.P158T;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.C472A:p.P158T;ENSG00000141469:ENST00000502059:exon5:c.C148A:p.P50T;ENSG00000141469:ENST00000535474:exon4:c.C76A:p.P26T;ENSG00000141469:ENST00000586142:exon4:c.C472A:p.P158T;ENSG00000141469:ENST00000589322:exon3:c.C76A:p.P26T;ENSG00000141469:ENST00000590246:exon4:c.C157A:p.P53T;ENSG00000141469:ENST00000589700:exon4:c.C472A:p.P158T;ENSG00000141469:ENST00000402943:exon5:c.C157A:p.P53T;ENSG00000141469:ENST00000436407:exon5:c.C640A:p.P214T;ENSG00000141469:ENST00000415427:exon7:c.C640A:p.P214T;	0.0510734363576724	0.132
18	43316422	C	G	18	45736457	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.C640G:p.P214A;SLC14A1:NM_001128588:exon7:c.C640G:p.P214A;SLC14A1:NM_001146036:exon7:c.C472G:p.P158A;SLC14A1:NM_015865:exon6:c.C472G:p.P158A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.C472G:p.P158A;ENSG00000141469:ENST00000502059:exon5:c.C148G:p.P50A;ENSG00000141469:ENST00000535474:exon4:c.C76G:p.P26A;ENSG00000141469:ENST00000586142:exon4:c.C472G:p.P158A;ENSG00000141469:ENST00000589322:exon3:c.C76G:p.P26A;ENSG00000141469:ENST00000590246:exon4:c.C157G:p.P53A;ENSG00000141469:ENST00000589700:exon4:c.C472G:p.P158A;ENSG00000141469:ENST00000402943:exon5:c.C157G:p.P53A;ENSG00000141469:ENST00000436407:exon5:c.C640G:p.P214A;ENSG00000141469:ENST00000415427:exon7:c.C640G:p.P214A;	0.462643290224123	0.506
18	43316422	C	T	18	45736457	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.C640T:p.P214S;SLC14A1:NM_001128588:exon7:c.C640T:p.P214S;SLC14A1:NM_001146036:exon7:c.C472T:p.P158S;SLC14A1:NM_015865:exon6:c.C472T:p.P158S;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.C472T:p.P158S;ENSG00000141469:ENST00000502059:exon5:c.C148T:p.P50S;ENSG00000141469:ENST00000535474:exon4:c.C76T:p.P26S;ENSG00000141469:ENST00000586142:exon4:c.C472T:p.P158S;ENSG00000141469:ENST00000589322:exon3:c.C76T:p.P26S;ENSG00000141469:ENST00000590246:exon4:c.C157T:p.P53S;ENSG00000141469:ENST00000589700:exon4:c.C472T:p.P158S;ENSG00000141469:ENST00000402943:exon5:c.C157T:p.P53S;ENSG00000141469:ENST00000436407:exon5:c.C640T:p.P214S;ENSG00000141469:ENST00000415427:exon7:c.C640T:p.P214S;	0.980103626497846	0.76
18	43316611	G	A	18	45736646	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.G829A:p.E277K;SLC14A1:NM_001128588:exon7:c.G829A:p.E277K;SLC14A1:NM_001146036:exon7:c.G661A:p.E221K;SLC14A1:NM_015865:exon6:c.G661A:p.E221K;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.G661A:p.E221K;ENSG00000141469:ENST00000502059:exon5:c.G337A:p.E113K;ENSG00000141469:ENST00000535474:exon4:c.G265A:p.E89K;ENSG00000141469:ENST00000586142:exon4:c.G661A:p.E221K;ENSG00000141469:ENST00000589322:exon3:c.G265A:p.E89K;ENSG00000141469:ENST00000590246:exon4:c.G346A:p.E116K;ENSG00000141469:ENST00000589700:exon4:c.G661A:p.E221K;ENSG00000141469:ENST00000402943:exon5:c.G346A:p.E116K;ENSG00000141469:ENST00000436407:exon5:c.G829A:p.E277K;ENSG00000141469:ENST00000415427:exon7:c.G829A:p.E277K;	5.11708601943418E-5	0.0
18	43316611	G	C	18	45736646	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.G829C:p.E277Q;SLC14A1:NM_001128588:exon7:c.G829C:p.E277Q;SLC14A1:NM_001146036:exon7:c.G661C:p.E221Q;SLC14A1:NM_015865:exon6:c.G661C:p.E221Q;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.G661C:p.E221Q;ENSG00000141469:ENST00000502059:exon5:c.G337C:p.E113Q;ENSG00000141469:ENST00000535474:exon4:c.G265C:p.E89Q;ENSG00000141469:ENST00000586142:exon4:c.G661C:p.E221Q;ENSG00000141469:ENST00000589322:exon3:c.G265C:p.E89Q;ENSG00000141469:ENST00000590246:exon4:c.G346C:p.E116Q;ENSG00000141469:ENST00000589700:exon4:c.G661C:p.E221Q;ENSG00000141469:ENST00000402943:exon5:c.G346C:p.E116Q;ENSG00000141469:ENST00000436407:exon5:c.G829C:p.E277Q;ENSG00000141469:ENST00000415427:exon7:c.G829C:p.E277Q;	9.94106535121608E-5	0.006
18	43316611	G	T	18	45736646	y	y	exonic	SLC14A1	stopgain SNV	SLC14A1:NM_001146037:exon5:c.G829T:p.E277X;SLC14A1:NM_001128588:exon7:c.G829T:p.E277X;SLC14A1:NM_001146036:exon7:c.G661T:p.E221X;SLC14A1:NM_015865:exon6:c.G661T:p.E221X;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000321925:exon6:c.G661T:p.E221X;ENSG00000141469:ENST00000502059:exon5:c.G337T:p.E113X;ENSG00000141469:ENST00000535474:exon4:c.G265T:p.E89X;ENSG00000141469:ENST00000586142:exon4:c.G661T:p.E221X;ENSG00000141469:ENST00000589322:exon3:c.G265T:p.E89X;ENSG00000141469:ENST00000590246:exon4:c.G346T:p.E116X;ENSG00000141469:ENST00000589700:exon4:c.G661T:p.E221X;ENSG00000141469:ENST00000402943:exon5:c.G346T:p.E116X;ENSG00000141469:ENST00000436407:exon5:c.G829T:p.E277X;ENSG00000141469:ENST00000415427:exon7:c.G829T:p.E277X;	5.35864292395898E-4	0.328
18	43316612	A	C	18	45736647	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.A830C:p.E277A;SLC14A1:NM_001128588:exon7:c.A830C:p.E277A;SLC14A1:NM_001146036:exon7:c.A662C:p.E221A;SLC14A1:NM_015865:exon6:c.A662C:p.E221A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.A662C:p.E221A;ENSG00000141469:ENST00000502059:exon5:c.A338C:p.E113A;ENSG00000141469:ENST00000535474:exon4:c.A266C:p.E89A;ENSG00000141469:ENST00000586142:exon4:c.A662C:p.E221A;ENSG00000141469:ENST00000589322:exon3:c.A266C:p.E89A;ENSG00000141469:ENST00000590246:exon4:c.A347C:p.E116A;ENSG00000141469:ENST00000589700:exon4:c.A662C:p.E221A;ENSG00000141469:ENST00000402943:exon5:c.A347C:p.E116A;ENSG00000141469:ENST00000436407:exon5:c.A830C:p.E277A;ENSG00000141469:ENST00000415427:exon7:c.A830C:p.E277A;	0.0925863920468371	0.408
18	43316612	A	G	18	45736647	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.A830G:p.E277G;SLC14A1:NM_001128588:exon7:c.A830G:p.E277G;SLC14A1:NM_001146036:exon7:c.A662G:p.E221G;SLC14A1:NM_015865:exon6:c.A662G:p.E221G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.A662G:p.E221G;ENSG00000141469:ENST00000502059:exon5:c.A338G:p.E113G;ENSG00000141469:ENST00000535474:exon4:c.A266G:p.E89G;ENSG00000141469:ENST00000586142:exon4:c.A662G:p.E221G;ENSG00000141469:ENST00000589322:exon3:c.A266G:p.E89G;ENSG00000141469:ENST00000590246:exon4:c.A347G:p.E116G;ENSG00000141469:ENST00000589700:exon4:c.A662G:p.E221G;ENSG00000141469:ENST00000402943:exon5:c.A347G:p.E116G;ENSG00000141469:ENST00000436407:exon5:c.A830G:p.E277G;ENSG00000141469:ENST00000415427:exon7:c.A830G:p.E277G;	0.98821190488146	0.882
18	43316612	A	T	18	45736647	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.A830T:p.E277V;SLC14A1:NM_001128588:exon7:c.A830T:p.E277V;SLC14A1:NM_001146036:exon7:c.A662T:p.E221V;SLC14A1:NM_015865:exon6:c.A662T:p.E221V;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.A662T:p.E221V;ENSG00000141469:ENST00000502059:exon5:c.A338T:p.E113V;ENSG00000141469:ENST00000535474:exon4:c.A266T:p.E89V;ENSG00000141469:ENST00000586142:exon4:c.A662T:p.E221V;ENSG00000141469:ENST00000589322:exon3:c.A266T:p.E89V;ENSG00000141469:ENST00000590246:exon4:c.A347T:p.E116V;ENSG00000141469:ENST00000589700:exon4:c.A662T:p.E221V;ENSG00000141469:ENST00000402943:exon5:c.A347T:p.E116V;ENSG00000141469:ENST00000436407:exon5:c.A830T:p.E277V;ENSG00000141469:ENST00000415427:exon7:c.A830T:p.E277V;	0.952056083398233	0.802
18	43316613	G	A	18	45736648	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon5:c.G831A:p.E277E;SLC14A1:NM_001128588:exon7:c.G831A:p.E277E;SLC14A1:NM_001146036:exon7:c.G663A:p.E221E;SLC14A1:NM_015865:exon6:c.G663A:p.E221E;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.G663A:p.E221E;ENSG00000141469:ENST00000502059:exon5:c.G339A:p.E113E;ENSG00000141469:ENST00000535474:exon4:c.G267A:p.E89E;ENSG00000141469:ENST00000586142:exon4:c.G663A:p.E221E;ENSG00000141469:ENST00000589322:exon3:c.G267A:p.E89E;ENSG00000141469:ENST00000590246:exon4:c.G348A:p.E116E;ENSG00000141469:ENST00000589700:exon4:c.G663A:p.E221E;ENSG00000141469:ENST00000402943:exon5:c.G348A:p.E116E;ENSG00000141469:ENST00000436407:exon5:c.G831A:p.E277E;ENSG00000141469:ENST00000415427:exon7:c.G831A:p.E277E;	0.999639741112986	0.936
18	43316613	G	C	18	45736648	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.G831C:p.E277D;SLC14A1:NM_001128588:exon7:c.G831C:p.E277D;SLC14A1:NM_001146036:exon7:c.G663C:p.E221D;SLC14A1:NM_015865:exon6:c.G663C:p.E221D;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.G663C:p.E221D;ENSG00000141469:ENST00000502059:exon5:c.G339C:p.E113D;ENSG00000141469:ENST00000535474:exon4:c.G267C:p.E89D;ENSG00000141469:ENST00000586142:exon4:c.G663C:p.E221D;ENSG00000141469:ENST00000589322:exon3:c.G267C:p.E89D;ENSG00000141469:ENST00000590246:exon4:c.G348C:p.E116D;ENSG00000141469:ENST00000589700:exon4:c.G663C:p.E221D;ENSG00000141469:ENST00000402943:exon5:c.G348C:p.E116D;ENSG00000141469:ENST00000436407:exon5:c.G831C:p.E277D;ENSG00000141469:ENST00000415427:exon7:c.G831C:p.E277D;	0.999558741019195	0.926
18	43316613	G	T	18	45736648	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon5:c.G831T:p.E277D;SLC14A1:NM_001128588:exon7:c.G831T:p.E277D;SLC14A1:NM_001146036:exon7:c.G663T:p.E221D;SLC14A1:NM_015865:exon6:c.G663T:p.E221D;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon6:c.G663T:p.E221D;ENSG00000141469:ENST00000502059:exon5:c.G339T:p.E113D;ENSG00000141469:ENST00000535474:exon4:c.G267T:p.E89D;ENSG00000141469:ENST00000586142:exon4:c.G663T:p.E221D;ENSG00000141469:ENST00000589322:exon3:c.G267T:p.E89D;ENSG00000141469:ENST00000590246:exon4:c.G348T:p.E116D;ENSG00000141469:ENST00000589700:exon4:c.G663T:p.E221D;ENSG00000141469:ENST00000402943:exon5:c.G348T:p.E116D;ENSG00000141469:ENST00000436407:exon5:c.G831T:p.E277D;ENSG00000141469:ENST00000415427:exon7:c.G831T:p.E277D;	0.99992877540327	0.984
18	43316614	G	A	18	45736649	y	y	splicing	SLC14A1(NM_001146036:exon7:c.663+1G>A;NM_015865:exon6:c.663+1G>A;NM_001128588:exon7:c.831+1G>A;NM_001146037:exon5:c.831+1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.663+1G>A;ENST00000502059:exon5:c.339+1G>A;ENST00000402943:exon5:c.348+1G>A;ENST00000535474:exon4:c.267+1G>A;ENST00000415427:exon7:c.831+1G>A;ENST00000589322:exon3:c.267+1G>A;ENST00000436407:exon5:c.831+1G>A;ENST00000586142:exon4:c.663+1G>A;ENST00000589700:exon4:c.663+1G>A;ENST00000590377:exon3:c.386+1G>A)	.	.	0.999985532734767	0.936
18	43316614	G	C	18	45736649	y	y	splicing	SLC14A1(NM_001146036:exon7:c.663+1G>C;NM_015865:exon6:c.663+1G>C;NM_001128588:exon7:c.831+1G>C;NM_001146037:exon5:c.831+1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.663+1G>C;ENST00000502059:exon5:c.339+1G>C;ENST00000402943:exon5:c.348+1G>C;ENST00000535474:exon4:c.267+1G>C;ENST00000415427:exon7:c.831+1G>C;ENST00000589322:exon3:c.267+1G>C;ENST00000436407:exon5:c.831+1G>C;ENST00000586142:exon4:c.663+1G>C;ENST00000589700:exon4:c.663+1G>C;ENST00000590377:exon3:c.386+1G>C)	.	.	0.999985532734767	0.936
18	43316614	G	T	18	45736649	y	y	splicing	SLC14A1(NM_001146036:exon7:c.663+1G>T;NM_015865:exon6:c.663+1G>T;NM_001128588:exon7:c.831+1G>T;NM_001146037:exon5:c.831+1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.663+1G>T;ENST00000502059:exon5:c.339+1G>T;ENST00000402943:exon5:c.348+1G>T;ENST00000535474:exon4:c.267+1G>T;ENST00000415427:exon7:c.831+1G>T;ENST00000589322:exon3:c.267+1G>T;ENST00000436407:exon5:c.831+1G>T;ENST00000586142:exon4:c.663+1G>T;ENST00000589700:exon4:c.663+1G>T;ENST00000590377:exon3:c.386+1G>T)	.	.	0.999985532734767	0.936
18	43316615	T	A	18	45736650	y	y	splicing	SLC14A1(NM_001146036:exon7:c.663+2T>A;NM_015865:exon6:c.663+2T>A;NM_001128588:exon7:c.831+2T>A;NM_001146037:exon5:c.831+2T>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.663+2T>A;ENST00000502059:exon5:c.339+2T>A;ENST00000402943:exon5:c.348+2T>A;ENST00000535474:exon4:c.267+2T>A;ENST00000415427:exon7:c.831+2T>A;ENST00000589322:exon3:c.267+2T>A;ENST00000436407:exon5:c.831+2T>A;ENST00000586142:exon4:c.663+2T>A;ENST00000589700:exon4:c.663+2T>A;ENST00000590377:exon3:c.386+2T>A)	.	.	0.999988247793601	0.928
18	43316615	T	C	18	45736650	y	y	splicing	SLC14A1(NM_001146036:exon7:c.663+2T>C;NM_015865:exon6:c.663+2T>C;NM_001128588:exon7:c.831+2T>C;NM_001146037:exon5:c.831+2T>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.663+2T>C;ENST00000502059:exon5:c.339+2T>C;ENST00000402943:exon5:c.348+2T>C;ENST00000535474:exon4:c.267+2T>C;ENST00000415427:exon7:c.831+2T>C;ENST00000589322:exon3:c.267+2T>C;ENST00000436407:exon5:c.831+2T>C;ENST00000586142:exon4:c.663+2T>C;ENST00000589700:exon4:c.663+2T>C;ENST00000590377:exon3:c.386+2T>C)	.	.	0.99340600729494	0.646
18	43316615	T	G	18	45736650	y	y	splicing	SLC14A1(NM_001146036:exon7:c.663+2T>G;NM_015865:exon6:c.663+2T>G;NM_001128588:exon7:c.831+2T>G;NM_001146037:exon5:c.831+2T>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon6:c.663+2T>G;ENST00000502059:exon5:c.339+2T>G;ENST00000402943:exon5:c.348+2T>G;ENST00000535474:exon4:c.267+2T>G;ENST00000415427:exon7:c.831+2T>G;ENST00000589322:exon3:c.267+2T>G;ENST00000436407:exon5:c.831+2T>G;ENST00000586142:exon4:c.663+2T>G;ENST00000589700:exon4:c.663+2T>G;ENST00000590377:exon3:c.386+2T>G)	.	.	0.999988247793601	0.928
18	43316616	A	C	18	45736651	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.989439660010531	0.768
18	43316616	A	G	18	45736651	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.153782948498392	0.44
18	43316616	A	T	18	45736651	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.99123671227678	0.84
18	43316617	A	C	18	45736652	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.989251883197676	0.728
18	43316617	A	G	18	45736652	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.989303873452304	0.664
18	43316617	A	T	18	45736652	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.992850262298313	0.73
18	43316618	G	A	18	45736653	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.934457042822949	0.612
18	43316618	G	C	18	45736653	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.85665081214865	0.624
18	43316618	G	T	18	45736653	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.733037748894578	0.586
18	43316619	A	C	18	45736654	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.93523306913766E-4	0.02
18	43316619	A	G	18	45736654	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.99158911767365E-5	0.0
18	43316619	A	T	18	45736654	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.64526560328462E-5	0.02
18	43316620	G	A	18	45736655	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.0339478167547E-5	0.002
18	43316620	G	C	18	45736655	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.0339478167547E-5	0.0
18	43316620	G	T	18	45736655	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.0030960233099E-4	0.0
18	43316621	A	C	18	45736656	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.03486456168554E-4	0.0
18	43316621	A	G	18	45736656	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	9.44674656320337E-5	0.0
18	43316621	A	T	18	45736656	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.22244207639756E-4	0.0
18	43319116	T	A	18	45739151	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.630185271517821	0.564
18	43319116	T	C	18	45739151	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00193131603053657	0.106
18	43319116	T	G	18	45739151	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999883302958508	0.94
18	43319117	T	A	18	45739152	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.843081352718266	0.584
18	43319117	T	C	18	45739152	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	8.79909515514478E-4	0.076
18	43319117	T	G	18	45739152	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.661639977182733	0.492
18	43319118	T	A	18	45739153	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0185316755544967	0.288
18	43319118	T	C	18	45739153	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.85545325488205E-4	0.164
18	43319118	T	G	18	45739153	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0110376145759433	0.332
18	43319119	C	A	18	45739154	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.20509890291918E-4	0.08
18	43319119	C	G	18	45739154	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.65463367506973E-4	0.008
18	43319119	C	T	18	45739154	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.60159748321951E-5	0.0
18	43319120	T	A	18	45739155	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0897251555400615	0.202
18	43319120	T	C	18	45739155	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.93020793175858E-4	0.004
18	43319120	T	G	18	45739155	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0374068465986656	0.2
18	43319121	T	A	18	45739156	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.459635368001373	0.34
18	43319121	T	C	18	45739156	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.86882505676995E-4	0.066
18	43319121	T	G	18	45739156	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.518691884599783	0.268
18	43319122	T	A	18	45739157	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0692013960138773	0.236
18	43319122	T	C	18	45739157	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.13635028985245E-4	0.018
18	43319122	T	G	18	45739157	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.014504801589075	0.19
18	43319123	T	A	18	45739158	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999932741995809	0.972
18	43319123	T	C	18	45739158	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.43311831452156E-4	0.008
18	43319123	T	G	18	45739158	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.378968546041295	0.384
18	43319124	G	A	18	45739159	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.15129053515095E-4	0.006
18	43319124	G	C	18	45739159	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.55264646594261E-5	0.004
18	43319124	G	T	18	45739159	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.43941080835694E-4	0.006
18	43319125	C	A	18	45739160	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999662378219846	0.96
18	43319125	C	G	18	45739160	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999935607355838	0.964
18	43319125	C	T	18	45739160	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.969560098523275	0.41
18	43319126	A	C	18	45739161	y	y	splicing	SLC14A1(NM_001146036:exon8:c.664-2A>C;NM_015865:exon7:c.664-2A>C;NM_001128588:exon8:c.832-2A>C;NM_001146037:exon6:c.832-2A>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.664-2A>C;ENST00000502059:exon6:c.340-2A>C;ENST00000402943:exon6:c.349-2A>C;ENST00000535474:exon5:c.268-2A>C;ENST00000415427:exon8:c.832-2A>C;ENST00000589322:exon4:c.268-2A>C;ENST00000588179:exon7:c.639-2A>C;ENST00000436407:exon6:c.832-2A>C;ENST00000586142:exon5:c.664-2A>C)	.	.	0.999988247793601	0.928
18	43319126	A	G	18	45739161	y	y	splicing	SLC14A1(NM_001146036:exon8:c.664-2A>G;NM_015865:exon7:c.664-2A>G;NM_001128588:exon8:c.832-2A>G;NM_001146037:exon6:c.832-2A>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.664-2A>G;ENST00000502059:exon6:c.340-2A>G;ENST00000402943:exon6:c.349-2A>G;ENST00000535474:exon5:c.268-2A>G;ENST00000415427:exon8:c.832-2A>G;ENST00000589322:exon4:c.268-2A>G;ENST00000588179:exon7:c.639-2A>G;ENST00000436407:exon6:c.832-2A>G;ENST00000586142:exon5:c.664-2A>G)	.	.	0.999988247793601	0.928
18	43319126	A	T	18	45739161	y	y	splicing	SLC14A1(NM_001146036:exon8:c.664-2A>T;NM_015865:exon7:c.664-2A>T;NM_001128588:exon8:c.832-2A>T;NM_001146037:exon6:c.832-2A>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.664-2A>T;ENST00000502059:exon6:c.340-2A>T;ENST00000402943:exon6:c.349-2A>T;ENST00000535474:exon5:c.268-2A>T;ENST00000415427:exon8:c.832-2A>T;ENST00000589322:exon4:c.268-2A>T;ENST00000588179:exon7:c.639-2A>T;ENST00000436407:exon6:c.832-2A>T;ENST00000586142:exon5:c.664-2A>T)	.	.	0.999988247793601	0.928
18	43319127	G	A	18	45739162	y	y	splicing	SLC14A1(NM_001146036:exon8:c.664-1G>A;NM_015865:exon7:c.664-1G>A;NM_001128588:exon8:c.832-1G>A;NM_001146037:exon6:c.832-1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.664-1G>A;ENST00000502059:exon6:c.340-1G>A;ENST00000402943:exon6:c.349-1G>A;ENST00000535474:exon5:c.268-1G>A;ENST00000415427:exon8:c.832-1G>A;ENST00000589322:exon4:c.268-1G>A;ENST00000588179:exon7:c.639-1G>A;ENST00000436407:exon6:c.832-1G>A;ENST00000586142:exon5:c.664-1G>A)	.	.	0.999985532734767	0.938
18	43319127	G	C	18	45739162	y	y	splicing	SLC14A1(NM_001146036:exon8:c.664-1G>C;NM_015865:exon7:c.664-1G>C;NM_001128588:exon8:c.832-1G>C;NM_001146037:exon6:c.832-1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.664-1G>C;ENST00000502059:exon6:c.340-1G>C;ENST00000402943:exon6:c.349-1G>C;ENST00000535474:exon5:c.268-1G>C;ENST00000415427:exon8:c.832-1G>C;ENST00000589322:exon4:c.268-1G>C;ENST00000588179:exon7:c.639-1G>C;ENST00000436407:exon6:c.832-1G>C;ENST00000586142:exon5:c.664-1G>C)	.	.	0.999985532734767	0.938
18	43319127	G	T	18	45739162	y	y	splicing	SLC14A1(NM_001146036:exon8:c.664-1G>T;NM_015865:exon7:c.664-1G>T;NM_001128588:exon8:c.832-1G>T;NM_001146037:exon6:c.832-1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.664-1G>T;ENST00000502059:exon6:c.340-1G>T;ENST00000402943:exon6:c.349-1G>T;ENST00000535474:exon5:c.268-1G>T;ENST00000415427:exon8:c.832-1G>T;ENST00000589322:exon4:c.268-1G>T;ENST00000588179:exon7:c.639-1G>T;ENST00000436407:exon6:c.832-1G>T;ENST00000586142:exon5:c.664-1G>T)	.	.	0.999985532734767	0.938
18	43319128	T	A	18	45739163	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.T832A:p.L278M;SLC14A1:NM_001128588:exon8:c.T832A:p.L278M;SLC14A1:NM_001146036:exon8:c.T664A:p.L222M;SLC14A1:NM_015865:exon7:c.T664A:p.L222M;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000588179:exon7:c.T639A:p.C213X;	9.34686265144321E-5	0.324
18	43319128	T	C	18	45739163	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon6:c.T832C:p.L278L;SLC14A1:NM_001128588:exon8:c.T832C:p.L278L;SLC14A1:NM_001146036:exon8:c.T664C:p.L222L;SLC14A1:NM_015865:exon7:c.T664C:p.L222L;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.T664C:p.L222L;ENSG00000141469:ENST00000502059:exon6:c.T340C:p.L114L;ENSG00000141469:ENST00000535474:exon5:c.T268C:p.L90L;ENSG00000141469:ENST00000586142:exon5:c.T664C:p.L222L;ENSG00000141469:ENST00000589322:exon4:c.T268C:p.L90L;ENSG00000141469:ENST00000588179:exon7:c.T639C:p.C213C;ENSG00000141469:ENST00000402943:exon6:c.T349C:p.L117L;ENSG00000141469:ENST00000436407:exon6:c.T832C:p.L278L;ENSG00000141469:ENST00000415427:exon8:c.T832C:p.L278L;	6.99020549070958E-5	0.02
18	43319128	T	G	18	45739163	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.T832G:p.L278V;SLC14A1:NM_001128588:exon8:c.T832G:p.L278V;SLC14A1:NM_001146036:exon8:c.T664G:p.L222V;SLC14A1:NM_015865:exon7:c.T664G:p.L222V;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.T664G:p.L222V;ENSG00000141469:ENST00000502059:exon6:c.T340G:p.L114V;ENSG00000141469:ENST00000535474:exon5:c.T268G:p.L90V;ENSG00000141469:ENST00000586142:exon5:c.T664G:p.L222V;ENSG00000141469:ENST00000589322:exon4:c.T268G:p.L90V;ENSG00000141469:ENST00000588179:exon7:c.T639G:p.C213W;ENSG00000141469:ENST00000402943:exon6:c.T349G:p.L117V;ENSG00000141469:ENST00000436407:exon6:c.T832G:p.L278V;ENSG00000141469:ENST00000415427:exon8:c.T832G:p.L278V;	2.48488820601376E-4	0.364
18	43319129	T	A	18	45739164	y	y	exonic	SLC14A1	stopgain SNV	SLC14A1:NM_001146037:exon6:c.T833A:p.L278X;SLC14A1:NM_001128588:exon8:c.T833A:p.L278X;SLC14A1:NM_001146036:exon8:c.T665A:p.L222X;SLC14A1:NM_015865:exon7:c.T665A:p.L222X;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000321925:exon7:c.T665A:p.L222X;ENSG00000141469:ENST00000502059:exon6:c.T341A:p.L114X;ENSG00000141469:ENST00000535474:exon5:c.T269A:p.L90X;ENSG00000141469:ENST00000586142:exon5:c.T665A:p.L222X;ENSG00000141469:ENST00000589322:exon4:c.T269A:p.L90X;ENSG00000141469:ENST00000402943:exon6:c.T350A:p.L117X;ENSG00000141469:ENST00000436407:exon6:c.T833A:p.L278X;ENSG00000141469:ENST00000415427:exon8:c.T833A:p.L278X;	0.823687799382005	0.648
18	43319129	T	C	18	45739164	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.T833C:p.L278S;SLC14A1:NM_001128588:exon8:c.T833C:p.L278S;SLC14A1:NM_001146036:exon8:c.T665C:p.L222S;SLC14A1:NM_015865:exon7:c.T665C:p.L222S;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.T665C:p.L222S;ENSG00000141469:ENST00000502059:exon6:c.T341C:p.L114S;ENSG00000141469:ENST00000535474:exon5:c.T269C:p.L90S;ENSG00000141469:ENST00000586142:exon5:c.T665C:p.L222S;ENSG00000141469:ENST00000589322:exon4:c.T269C:p.L90S;ENSG00000141469:ENST00000588179:exon7:c.T640C:p.C214R;ENSG00000141469:ENST00000402943:exon6:c.T350C:p.L117S;ENSG00000141469:ENST00000436407:exon6:c.T833C:p.L278S;ENSG00000141469:ENST00000415427:exon8:c.T833C:p.L278S;	0.658985505227538	0.502
18	43319129	T	G	18	45739164	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.T833G:p.L278W;SLC14A1:NM_001128588:exon8:c.T833G:p.L278W;SLC14A1:NM_001146036:exon8:c.T665G:p.L222W;SLC14A1:NM_015865:exon7:c.T665G:p.L222W;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.T665G:p.L222W;ENSG00000141469:ENST00000502059:exon6:c.T341G:p.L114W;ENSG00000141469:ENST00000535474:exon5:c.T269G:p.L90W;ENSG00000141469:ENST00000586142:exon5:c.T665G:p.L222W;ENSG00000141469:ENST00000589322:exon4:c.T269G:p.L90W;ENSG00000141469:ENST00000588179:exon7:c.T640G:p.C214G;ENSG00000141469:ENST00000402943:exon6:c.T350G:p.L117W;ENSG00000141469:ENST00000436407:exon6:c.T833G:p.L278W;ENSG00000141469:ENST00000415427:exon8:c.T833G:p.L278W;	0.689920052288388	0.438
18	43319273	C	A	18	45739308	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.C977A:p.A326E;SLC14A1:NM_001128588:exon8:c.C977A:p.A326E;SLC14A1:NM_001146036:exon8:c.C809A:p.A270E;SLC14A1:NM_015865:exon7:c.C809A:p.A270E;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.C809A:p.A270E;ENSG00000141469:ENST00000502059:exon6:c.C485A:p.A162E;ENSG00000141469:ENST00000535474:exon5:c.C413A:p.A138E;ENSG00000141469:ENST00000586142:exon5:c.C809A:p.A270E;ENSG00000141469:ENST00000589322:exon4:c.C413A:p.A138E;ENSG00000141469:ENST00000402943:exon6:c.C494A:p.A165E;ENSG00000141469:ENST00000436407:exon6:c.C977A:p.A326E;ENSG00000141469:ENST00000415427:exon8:c.C977A:p.A326E;	0.939905220746076	0.68
18	43319273	C	G	18	45739308	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.C977G:p.A326G;SLC14A1:NM_001128588:exon8:c.C977G:p.A326G;SLC14A1:NM_001146036:exon8:c.C809G:p.A270G;SLC14A1:NM_015865:exon7:c.C809G:p.A270G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.C809G:p.A270G;ENSG00000141469:ENST00000502059:exon6:c.C485G:p.A162G;ENSG00000141469:ENST00000535474:exon5:c.C413G:p.A138G;ENSG00000141469:ENST00000586142:exon5:c.C809G:p.A270G;ENSG00000141469:ENST00000589322:exon4:c.C413G:p.A138G;ENSG00000141469:ENST00000402943:exon6:c.C494G:p.A165G;ENSG00000141469:ENST00000436407:exon6:c.C977G:p.A326G;ENSG00000141469:ENST00000415427:exon8:c.C977G:p.A326G;	0.896459026860066	0.672
18	43319273	C	T	18	45739308	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.C977T:p.A326V;SLC14A1:NM_001128588:exon8:c.C977T:p.A326V;SLC14A1:NM_001146036:exon8:c.C809T:p.A270V;SLC14A1:NM_015865:exon7:c.C809T:p.A270V;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.C809T:p.A270V;ENSG00000141469:ENST00000502059:exon6:c.C485T:p.A162V;ENSG00000141469:ENST00000535474:exon5:c.C413T:p.A138V;ENSG00000141469:ENST00000586142:exon5:c.C809T:p.A270V;ENSG00000141469:ENST00000589322:exon4:c.C413T:p.A138V;ENSG00000141469:ENST00000402943:exon6:c.C494T:p.A165V;ENSG00000141469:ENST00000436407:exon6:c.C977T:p.A326V;ENSG00000141469:ENST00000415427:exon8:c.C977T:p.A326V;	0.999621452458885	0.876
18	43319274	G	A	18	45739309	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon6:c.G978A:p.A326A;SLC14A1:NM_001128588:exon8:c.G978A:p.A326A;SLC14A1:NM_001146036:exon8:c.G810A:p.A270A;SLC14A1:NM_015865:exon7:c.G810A:p.A270A;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.G810A:p.A270A;ENSG00000141469:ENST00000502059:exon6:c.G486A:p.A162A;ENSG00000141469:ENST00000535474:exon5:c.G414A:p.A138A;ENSG00000141469:ENST00000586142:exon5:c.G810A:p.A270A;ENSG00000141469:ENST00000589322:exon4:c.G414A:p.A138A;ENSG00000141469:ENST00000402943:exon6:c.G495A:p.A165A;ENSG00000141469:ENST00000436407:exon6:c.G978A:p.A326A;ENSG00000141469:ENST00000415427:exon8:c.G978A:p.A326A;	8.73023356175099E-5	0.026
18	43319274	G	C	18	45739309	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon6:c.G978C:p.A326A;SLC14A1:NM_001128588:exon8:c.G978C:p.A326A;SLC14A1:NM_001146036:exon8:c.G810C:p.A270A;SLC14A1:NM_015865:exon7:c.G810C:p.A270A;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.G810C:p.A270A;ENSG00000141469:ENST00000502059:exon6:c.G486C:p.A162A;ENSG00000141469:ENST00000535474:exon5:c.G414C:p.A138A;ENSG00000141469:ENST00000586142:exon5:c.G810C:p.A270A;ENSG00000141469:ENST00000589322:exon4:c.G414C:p.A138A;ENSG00000141469:ENST00000402943:exon6:c.G495C:p.A165A;ENSG00000141469:ENST00000436407:exon6:c.G978C:p.A326A;ENSG00000141469:ENST00000415427:exon8:c.G978C:p.A326A;	2.70383993541352E-5	0.0
18	43319274	G	T	18	45739309	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon6:c.G978T:p.A326A;SLC14A1:NM_001128588:exon8:c.G978T:p.A326A;SLC14A1:NM_001146036:exon8:c.G810T:p.A270A;SLC14A1:NM_015865:exon7:c.G810T:p.A270A;	exonic	ENSG00000141469	synonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.G810T:p.A270A;ENSG00000141469:ENST00000502059:exon6:c.G486T:p.A162A;ENSG00000141469:ENST00000535474:exon5:c.G414T:p.A138A;ENSG00000141469:ENST00000586142:exon5:c.G810T:p.A270A;ENSG00000141469:ENST00000589322:exon4:c.G414T:p.A138A;ENSG00000141469:ENST00000402943:exon6:c.G495T:p.A165A;ENSG00000141469:ENST00000436407:exon6:c.G978T:p.A326A;ENSG00000141469:ENST00000415427:exon8:c.G978T:p.A326A;	5.23880172692014E-5	0.0
18	43319275	G	A	18	45739310	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.G979A:p.G327R;SLC14A1:NM_001128588:exon8:c.G979A:p.G327R;SLC14A1:NM_001146036:exon8:c.G811A:p.G271R;SLC14A1:NM_015865:exon7:c.G811A:p.G271R;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.G811A:p.G271R;ENSG00000141469:ENST00000502059:exon6:c.G487A:p.G163R;ENSG00000141469:ENST00000535474:exon5:c.G415A:p.G139R;ENSG00000141469:ENST00000586142:exon5:c.G811A:p.G271R;ENSG00000141469:ENST00000589322:exon4:c.G415A:p.G139R;ENSG00000141469:ENST00000402943:exon6:c.G496A:p.G166R;ENSG00000141469:ENST00000436407:exon6:c.G979A:p.G327R;ENSG00000141469:ENST00000415427:exon8:c.G979A:p.G327R;	0.99999059975913	1.0
18	43319275	G	C	18	45739310	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon6:c.G979C:p.G327R;SLC14A1:NM_001128588:exon8:c.G979C:p.G327R;SLC14A1:NM_001146036:exon8:c.G811C:p.G271R;SLC14A1:NM_015865:exon7:c.G811C:p.G271R;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon7:c.G811C:p.G271R;ENSG00000141469:ENST00000502059:exon6:c.G487C:p.G163R;ENSG00000141469:ENST00000535474:exon5:c.G415C:p.G139R;ENSG00000141469:ENST00000586142:exon5:c.G811C:p.G271R;ENSG00000141469:ENST00000589322:exon4:c.G415C:p.G139R;ENSG00000141469:ENST00000402943:exon6:c.G496C:p.G166R;ENSG00000141469:ENST00000436407:exon6:c.G979C:p.G327R;ENSG00000141469:ENST00000415427:exon8:c.G979C:p.G327R;	0.999997247587064	0.99
18	43319275	G	T	18	45739310	y	y	exonic	SLC14A1	stopgain SNV	SLC14A1:NM_001146037:exon6:c.G979T:p.G327X;SLC14A1:NM_001128588:exon8:c.G979T:p.G327X;SLC14A1:NM_001146036:exon8:c.G811T:p.G271X;SLC14A1:NM_015865:exon7:c.G811T:p.G271X;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000321925:exon7:c.G811T:p.G271X;ENSG00000141469:ENST00000502059:exon6:c.G487T:p.G163X;ENSG00000141469:ENST00000535474:exon5:c.G415T:p.G139X;ENSG00000141469:ENST00000586142:exon5:c.G811T:p.G271X;ENSG00000141469:ENST00000589322:exon4:c.G415T:p.G139X;ENSG00000141469:ENST00000402943:exon6:c.G496T:p.G166X;ENSG00000141469:ENST00000436407:exon6:c.G979T:p.G327X;ENSG00000141469:ENST00000415427:exon8:c.G979T:p.G327X;	0.999989996763008	0.996
18	43319276	G	A	18	45739311	y	y	splicing	SLC14A1(NM_001146036:exon8:c.811+1G>A;NM_015865:exon7:c.811+1G>A;NM_001128588:exon8:c.979+1G>A;NM_001146037:exon6:c.979+1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.811+1G>A;ENST00000502059:exon6:c.487+1G>A;ENST00000402943:exon6:c.496+1G>A;ENST00000535474:exon5:c.415+1G>A;ENST00000415427:exon8:c.979+1G>A;ENST00000589322:exon4:c.415+1G>A;ENST00000588179:exon7:c.786+1G>A;ENST00000436407:exon6:c.979+1G>A;ENST00000586142:exon5:c.811+1G>A)	.	.	0.999933757597683	0.924
18	43319276	G	C	18	45739311	y	y	splicing	SLC14A1(NM_001146036:exon8:c.811+1G>C;NM_015865:exon7:c.811+1G>C;NM_001128588:exon8:c.979+1G>C;NM_001146037:exon6:c.979+1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.811+1G>C;ENST00000502059:exon6:c.487+1G>C;ENST00000402943:exon6:c.496+1G>C;ENST00000535474:exon5:c.415+1G>C;ENST00000415427:exon8:c.979+1G>C;ENST00000589322:exon4:c.415+1G>C;ENST00000588179:exon7:c.786+1G>C;ENST00000436407:exon6:c.979+1G>C;ENST00000586142:exon5:c.811+1G>C)	.	.	0.999956786857988	0.936
18	43319276	G	T	18	45739311	y	y	splicing	SLC14A1(NM_001146036:exon8:c.811+1G>T;NM_015865:exon7:c.811+1G>T;NM_001128588:exon8:c.979+1G>T;NM_001146037:exon6:c.979+1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.811+1G>T;ENST00000502059:exon6:c.487+1G>T;ENST00000402943:exon6:c.496+1G>T;ENST00000535474:exon5:c.415+1G>T;ENST00000415427:exon8:c.979+1G>T;ENST00000589322:exon4:c.415+1G>T;ENST00000588179:exon7:c.786+1G>T;ENST00000436407:exon6:c.979+1G>T;ENST00000586142:exon5:c.811+1G>T)	.	.	0.999933757597683	0.938
18	43319277	T	A	18	45739312	y	y	splicing	SLC14A1(NM_001146036:exon8:c.811+2T>A;NM_015865:exon7:c.811+2T>A;NM_001128588:exon8:c.979+2T>A;NM_001146037:exon6:c.979+2T>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.811+2T>A;ENST00000502059:exon6:c.487+2T>A;ENST00000402943:exon6:c.496+2T>A;ENST00000535474:exon5:c.415+2T>A;ENST00000415427:exon8:c.979+2T>A;ENST00000589322:exon4:c.415+2T>A;ENST00000588179:exon7:c.786+2T>A;ENST00000436407:exon6:c.979+2T>A;ENST00000586142:exon5:c.811+2T>A)	.	.	0.999964896440643	0.932
18	43319277	T	C	18	45739312	y	y	splicing	SLC14A1(NM_001146036:exon8:c.811+2T>C;NM_015865:exon7:c.811+2T>C;NM_001128588:exon8:c.979+2T>C;NM_001146037:exon6:c.979+2T>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.811+2T>C;ENST00000502059:exon6:c.487+2T>C;ENST00000402943:exon6:c.496+2T>C;ENST00000535474:exon5:c.415+2T>C;ENST00000415427:exon8:c.979+2T>C;ENST00000589322:exon4:c.415+2T>C;ENST00000588179:exon7:c.786+2T>C;ENST00000436407:exon6:c.979+2T>C;ENST00000586142:exon5:c.811+2T>C)	.	.	0.999949090658863	0.964
18	43319277	T	G	18	45739312	y	y	splicing	SLC14A1(NM_001146036:exon8:c.811+2T>G;NM_015865:exon7:c.811+2T>G;NM_001128588:exon8:c.979+2T>G;NM_001146037:exon6:c.979+2T>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon7:c.811+2T>G;ENST00000502059:exon6:c.487+2T>G;ENST00000402943:exon6:c.496+2T>G;ENST00000535474:exon5:c.415+2T>G;ENST00000415427:exon8:c.979+2T>G;ENST00000589322:exon4:c.415+2T>G;ENST00000588179:exon7:c.786+2T>G;ENST00000436407:exon6:c.979+2T>G;ENST00000586142:exon5:c.811+2T>G)	.	.	0.999963671976247	0.93
18	43319278	G	A	18	45739313	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.98501777021816E-5	0.0
18	43319278	G	C	18	45739313	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.266435821090045	0.422
18	43319278	G	T	18	45739313	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.738935740569235	0.392
18	43319279	A	C	18	45739314	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0978680559471461	0.338
18	43319279	A	G	18	45739314	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.930227916561255	0.746
18	43319279	A	T	18	45739314	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.975225189719879	0.806
18	43319280	G	A	18	45739315	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999913942506521	0.972
18	43319280	G	C	18	45739315	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999845691005017	0.946
18	43319280	G	T	18	45739315	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999926130613496	0.972
18	43319281	C	A	18	45739316	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.0015283970285528	0.17
18	43319281	C	G	18	45739316	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.00132244134969733	0.17
18	43319281	C	T	18	45739316	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.04977802816681E-4	0.026
18	43319282	A	C	18	45739317	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.93087249888646E-4	0.004
18	43319282	A	G	18	45739317	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.38694963640994E-4	0.054
18	43319282	A	T	18	45739317	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.9139717738782E-4	0.034
18	43319283	C	A	18	45739318	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	5.55070419144293E-5	0.008
18	43319283	C	G	18	45739318	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	2.66978010396026E-5	0.004
18	43319283	C	T	18	45739318	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	6.52188614684683E-5	0.032
18	43319481	C	A	18	45739516	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.83601715949616E-4	0.01
18	43319481	C	G	18	45739516	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.38605209593777E-4	0.032
18	43319481	C	T	18	45739516	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	1.94422733443858E-5	0.0
18	43319482	T	A	18	45739517	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.999739243567718	0.97
18	43319482	T	C	18	45739517	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00105520763253334	0.082
18	43319482	T	G	18	45739517	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.184252970973785	0.424
18	43319483	G	A	18	45739518	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	6.37149221734979E-5	0.01
18	43319483	G	C	18	45739518	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.86143905314233E-5	0.008
18	43319483	G	T	18	45739518	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.01688985035939E-5	0.004
18	43319484	T	A	18	45739519	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.103953456903094	0.334
18	43319484	T	C	18	45739519	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.91874157396118E-4	0.01
18	43319484	T	G	18	45739519	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.09889924918644	0.382
18	43319485	C	A	18	45739520	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00264582185514903	0.148
18	43319485	C	G	18	45739520	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	9.73682693103164E-4	0.172
18	43319485	C	T	18	45739520	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.77368154325877E-5	0.072
18	43319486	T	A	18	45739521	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.220955951864426	0.334
18	43319486	T	C	18	45739521	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.06739036147169E-5	0.02
18	43319486	T	G	18	45739521	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.128543648082436	0.222
18	43319487	T	A	18	45739522	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00406776282394681	0.102
18	43319487	T	C	18	45739522	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	5.28213197863253E-5	0.0
18	43319487	T	G	18	45739522	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.0051765038486716	0.194
18	43319488	A	C	18	45739523	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	3.65477350212512E-5	0.0
18	43319488	A	G	18	45739523	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.20948444288282E-5	0.016
18	43319488	A	T	18	45739523	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	4.61719968068171E-5	0.0
18	43319489	A	C	18	45739524	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.53441842477809E-4	0.006
18	43319489	A	G	18	45739524	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.905045704307254	0.666
18	43319489	A	T	18	45739524	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	2.76583400784012E-4	0.024
18	43319490	C	A	18	45739525	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.364444578240522	0.592
18	43319490	C	G	18	45739525	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.998794375887366	0.886
18	43319490	C	T	18	45739525	y	y	intronic	SLC14A1	.	.	ncRNA_UTR5	ENSG00000141469	.	.	0.00130842859691722	0.04
18	43319491	A	C	18	45739526	y	y	splicing	SLC14A1(NM_001146036:exon9:c.812-2A>C;NM_015865:exon8:c.812-2A>C;NM_001128588:exon9:c.980-2A>C;NM_001146037:exon7:c.980-2A>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.812-2A>C;ENST00000502059:exon7:c.488-2A>C;ENST00000402943:exon7:c.497-2A>C;ENST00000535474:exon6:c.416-2A>C;ENST00000415427:exon9:c.980-2A>C;ENST00000589322:exon5:c.416-2A>C;ENST00000588179:exon8:c.787-2A>C;ENST00000436407:exon7:c.980-2A>C;ENST00000586142:exon6:c.812-2A>C;ENST00000589700:exon5:c.664-2A>C)	.	.	0.999978952611685	0.93
18	43319491	A	G	18	45739526	y	y	splicing	SLC14A1(NM_001146036:exon9:c.812-2A>G;NM_015865:exon8:c.812-2A>G;NM_001128588:exon9:c.980-2A>G;NM_001146037:exon7:c.980-2A>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.812-2A>G;ENST00000502059:exon7:c.488-2A>G;ENST00000402943:exon7:c.497-2A>G;ENST00000535474:exon6:c.416-2A>G;ENST00000415427:exon9:c.980-2A>G;ENST00000589322:exon5:c.416-2A>G;ENST00000588179:exon8:c.787-2A>G;ENST00000436407:exon7:c.980-2A>G;ENST00000586142:exon6:c.812-2A>G;ENST00000589700:exon5:c.664-2A>G)	.	.	0.999978952611685	0.93
18	43319491	A	T	18	45739526	y	y	splicing	SLC14A1(NM_001146036:exon9:c.812-2A>T;NM_015865:exon8:c.812-2A>T;NM_001128588:exon9:c.980-2A>T;NM_001146037:exon7:c.980-2A>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.812-2A>T;ENST00000502059:exon7:c.488-2A>T;ENST00000402943:exon7:c.497-2A>T;ENST00000535474:exon6:c.416-2A>T;ENST00000415427:exon9:c.980-2A>T;ENST00000589322:exon5:c.416-2A>T;ENST00000588179:exon8:c.787-2A>T;ENST00000436407:exon7:c.980-2A>T;ENST00000586142:exon6:c.812-2A>T;ENST00000589700:exon5:c.664-2A>T)	.	.	0.999988247793601	0.928
18	43319492	G	A	18	45739527	y	y	splicing	SLC14A1(NM_001146036:exon9:c.812-1G>A;NM_015865:exon8:c.812-1G>A;NM_001128588:exon9:c.980-1G>A;NM_001146037:exon7:c.980-1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.812-1G>A;ENST00000502059:exon7:c.488-1G>A;ENST00000402943:exon7:c.497-1G>A;ENST00000535474:exon6:c.416-1G>A;ENST00000415427:exon9:c.980-1G>A;ENST00000589322:exon5:c.416-1G>A;ENST00000588179:exon8:c.787-1G>A;ENST00000436407:exon7:c.980-1G>A;ENST00000586142:exon6:c.812-1G>A;ENST00000589700:exon5:c.664-1G>A)	.	.	0.999985532734767	0.936
18	43319492	G	C	18	45739527	y	y	splicing	SLC14A1(NM_001146036:exon9:c.812-1G>C;NM_015865:exon8:c.812-1G>C;NM_001128588:exon9:c.980-1G>C;NM_001146037:exon7:c.980-1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.812-1G>C;ENST00000502059:exon7:c.488-1G>C;ENST00000402943:exon7:c.497-1G>C;ENST00000535474:exon6:c.416-1G>C;ENST00000415427:exon9:c.980-1G>C;ENST00000589322:exon5:c.416-1G>C;ENST00000588179:exon8:c.787-1G>C;ENST00000436407:exon7:c.980-1G>C;ENST00000586142:exon6:c.812-1G>C;ENST00000589700:exon5:c.664-1G>C)	.	.	0.999985532734767	0.938
18	43319492	G	T	18	45739527	y	y	splicing	SLC14A1(NM_001146036:exon9:c.812-1G>T;NM_015865:exon8:c.812-1G>T;NM_001128588:exon9:c.980-1G>T;NM_001146037:exon7:c.980-1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.812-1G>T;ENST00000502059:exon7:c.488-1G>T;ENST00000402943:exon7:c.497-1G>T;ENST00000535474:exon6:c.416-1G>T;ENST00000415427:exon9:c.980-1G>T;ENST00000589322:exon5:c.416-1G>T;ENST00000588179:exon8:c.787-1G>T;ENST00000436407:exon7:c.980-1G>T;ENST00000586142:exon6:c.812-1G>T;ENST00000589700:exon5:c.664-1G>T)	.	.	0.999985532734767	0.938
18	43319493	G	A	18	45739528	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G980A:p.G327E;SLC14A1:NM_001128588:exon9:c.G980A:p.G327E;SLC14A1:NM_001146036:exon9:c.G812A:p.G271E;SLC14A1:NM_015865:exon8:c.G812A:p.G271E;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G812A:p.G271E;ENSG00000141469:ENST00000502059:exon7:c.G488A:p.G163E;ENSG00000141469:ENST00000535474:exon6:c.G416A:p.G139E;ENSG00000141469:ENST00000586142:exon6:c.G812A:p.G271E;ENSG00000141469:ENST00000589322:exon5:c.G416A:p.G139E;ENSG00000141469:ENST00000589700:exon5:c.G664A:p.D222N;ENSG00000141469:ENST00000402943:exon7:c.G497A:p.G166E;ENSG00000141469:ENST00000436407:exon7:c.G980A:p.G327E;ENSG00000141469:ENST00000415427:exon9:c.G980A:p.G327E;	0.828012518609821	0.506
18	43319493	G	C	18	45739528	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G980C:p.G327A;SLC14A1:NM_001128588:exon9:c.G980C:p.G327A;SLC14A1:NM_001146036:exon9:c.G812C:p.G271A;SLC14A1:NM_015865:exon8:c.G812C:p.G271A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G812C:p.G271A;ENSG00000141469:ENST00000502059:exon7:c.G488C:p.G163A;ENSG00000141469:ENST00000535474:exon6:c.G416C:p.G139A;ENSG00000141469:ENST00000586142:exon6:c.G812C:p.G271A;ENSG00000141469:ENST00000589322:exon5:c.G416C:p.G139A;ENSG00000141469:ENST00000589700:exon5:c.G664C:p.D222H;ENSG00000141469:ENST00000402943:exon7:c.G497C:p.G166A;ENSG00000141469:ENST00000436407:exon7:c.G980C:p.G327A;ENSG00000141469:ENST00000415427:exon9:c.G980C:p.G327A;	0.0886110241283248	0.432
18	43319493	G	T	18	45739528	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G980T:p.G327V;SLC14A1:NM_001128588:exon9:c.G980T:p.G327V;SLC14A1:NM_001146036:exon9:c.G812T:p.G271V;SLC14A1:NM_015865:exon8:c.G812T:p.G271V;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G812T:p.G271V;ENSG00000141469:ENST00000502059:exon7:c.G488T:p.G163V;ENSG00000141469:ENST00000535474:exon6:c.G416T:p.G139V;ENSG00000141469:ENST00000586142:exon6:c.G812T:p.G271V;ENSG00000141469:ENST00000589322:exon5:c.G416T:p.G139V;ENSG00000141469:ENST00000589700:exon5:c.G664T:p.D222Y;ENSG00000141469:ENST00000402943:exon7:c.G497T:p.G166V;ENSG00000141469:ENST00000436407:exon7:c.G980T:p.G327V;ENSG00000141469:ENST00000415427:exon9:c.G980T:p.G327V;	0.997645669762598	0.924
18	43319494	A	C	18	45739529	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon7:c.A981C:p.G327G;SLC14A1:NM_001128588:exon9:c.A981C:p.G327G;SLC14A1:NM_001146036:exon9:c.A813C:p.G271G;SLC14A1:NM_015865:exon8:c.A813C:p.G271G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000589700:exon5:c.A665C:p.D222A;	8.96077216055753E-5	0.0
18	43319494	A	G	18	45739529	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon7:c.A981G:p.G327G;SLC14A1:NM_001128588:exon9:c.A981G:p.G327G;SLC14A1:NM_001146036:exon9:c.A813G:p.G271G;SLC14A1:NM_015865:exon8:c.A813G:p.G271G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000589700:exon5:c.A665G:p.D222G;	4.28925864667995E-5	0.006
18	43319494	A	T	18	45739529	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon7:c.A981T:p.G327G;SLC14A1:NM_001128588:exon9:c.A981T:p.G327G;SLC14A1:NM_001146036:exon9:c.A813T:p.G271G;SLC14A1:NM_015865:exon8:c.A813T:p.G271G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000589700:exon5:c.A665T:p.D222V;	9.78788952219341E-5	0.006
18	43319625	G	A	18	45739660	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G1112A:p.C371Y;SLC14A1:NM_001128588:exon9:c.G1112A:p.C371Y;SLC14A1:NM_001146036:exon9:c.G944A:p.C315Y;SLC14A1:NM_015865:exon8:c.G944A:p.C315Y;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G944A:p.C315Y;ENSG00000141469:ENST00000502059:exon7:c.G620A:p.C207Y;ENSG00000141469:ENST00000535474:exon6:c.G548A:p.C183Y;ENSG00000141469:ENST00000591541:exon1:c.G56A:p.C19Y;ENSG00000141469:ENST00000586142:exon6:c.G944A:p.C315Y;ENSG00000141469:ENST00000589700:exon5:c.G796A:p.V266M;ENSG00000141469:ENST00000402943:exon7:c.G629A:p.C210Y;ENSG00000141469:ENST00000436407:exon7:c.G1112A:p.C371Y;ENSG00000141469:ENST00000415427:exon9:c.G1112A:p.C371Y;	0.918472320952073	0.78
18	43319625	G	C	18	45739660	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G1112C:p.C371S;SLC14A1:NM_001128588:exon9:c.G1112C:p.C371S;SLC14A1:NM_001146036:exon9:c.G944C:p.C315S;SLC14A1:NM_015865:exon8:c.G944C:p.C315S;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G944C:p.C315S;ENSG00000141469:ENST00000502059:exon7:c.G620C:p.C207S;ENSG00000141469:ENST00000535474:exon6:c.G548C:p.C183S;ENSG00000141469:ENST00000591541:exon1:c.G56C:p.C19S;ENSG00000141469:ENST00000586142:exon6:c.G944C:p.C315S;ENSG00000141469:ENST00000589700:exon5:c.G796C:p.V266L;ENSG00000141469:ENST00000402943:exon7:c.G629C:p.C210S;ENSG00000141469:ENST00000436407:exon7:c.G1112C:p.C371S;ENSG00000141469:ENST00000415427:exon9:c.G1112C:p.C371S;	0.93571663536774	0.758
18	43319625	G	T	18	45739660	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G1112T:p.C371F;SLC14A1:NM_001128588:exon9:c.G1112T:p.C371F;SLC14A1:NM_001146036:exon9:c.G944T:p.C315F;SLC14A1:NM_015865:exon8:c.G944T:p.C315F;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G944T:p.C315F;ENSG00000141469:ENST00000502059:exon7:c.G620T:p.C207F;ENSG00000141469:ENST00000535474:exon6:c.G548T:p.C183F;ENSG00000141469:ENST00000591541:exon1:c.G56T:p.C19F;ENSG00000141469:ENST00000586142:exon6:c.G944T:p.C315F;ENSG00000141469:ENST00000589700:exon5:c.G796T:p.V266L;ENSG00000141469:ENST00000402943:exon7:c.G629T:p.C210F;ENSG00000141469:ENST00000436407:exon7:c.G1112T:p.C371F;ENSG00000141469:ENST00000415427:exon9:c.G1112T:p.C371F;	0.989557819806027	0.908
18	43319626	T	A	18	45739661	y	y	exonic	SLC14A1	stopgain SNV	SLC14A1:NM_001146037:exon7:c.T1113A:p.C371X;SLC14A1:NM_001128588:exon9:c.T1113A:p.C371X;SLC14A1:NM_001146036:exon9:c.T945A:p.C315X;SLC14A1:NM_015865:exon8:c.T945A:p.C315X;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000321925:exon8:c.T945A:p.C315X;ENSG00000141469:ENST00000502059:exon7:c.T621A:p.C207X;ENSG00000141469:ENST00000535474:exon6:c.T549A:p.C183X;ENSG00000141469:ENST00000591541:exon1:c.T57A:p.C19X;ENSG00000141469:ENST00000586142:exon6:c.T945A:p.C315X;ENSG00000141469:ENST00000402943:exon7:c.T630A:p.C210X;ENSG00000141469:ENST00000436407:exon7:c.T1113A:p.C371X;ENSG00000141469:ENST00000415427:exon9:c.T1113A:p.C371X;	7.42315192558132E-5	0.33
18	43319626	T	C	18	45739661	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon7:c.T1113C:p.C371C;SLC14A1:NM_001128588:exon9:c.T1113C:p.C371C;SLC14A1:NM_001146036:exon9:c.T945C:p.C315C;SLC14A1:NM_015865:exon8:c.T945C:p.C315C;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000589700:exon5:c.T797C:p.V266A;	4.00596566705207E-5	0.004
18	43319626	T	G	18	45739661	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.T1113G:p.C371W;SLC14A1:NM_001128588:exon9:c.T1113G:p.C371W;SLC14A1:NM_001146036:exon9:c.T945G:p.C315W;SLC14A1:NM_015865:exon8:c.T945G:p.C315W;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.T945G:p.C315W;ENSG00000141469:ENST00000502059:exon7:c.T621G:p.C207W;ENSG00000141469:ENST00000535474:exon6:c.T549G:p.C183W;ENSG00000141469:ENST00000591541:exon1:c.T57G:p.C19W;ENSG00000141469:ENST00000586142:exon6:c.T945G:p.C315W;ENSG00000141469:ENST00000589700:exon5:c.T797G:p.V266G;ENSG00000141469:ENST00000402943:exon7:c.T630G:p.C210W;ENSG00000141469:ENST00000436407:exon7:c.T1113G:p.C371W;ENSG00000141469:ENST00000415427:exon9:c.T1113G:p.C371W;	1.45881073859181E-4	0.082
18	43319627	G	A	18	45739662	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G1114A:p.A372T;SLC14A1:NM_001128588:exon9:c.G1114A:p.A372T;SLC14A1:NM_001146036:exon9:c.G946A:p.A316T;SLC14A1:NM_015865:exon8:c.G946A:p.A316T;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G946A:p.A316T;ENSG00000141469:ENST00000502059:exon7:c.G622A:p.A208T;ENSG00000141469:ENST00000535474:exon6:c.G550A:p.A184T;ENSG00000141469:ENST00000591541:exon1:c.G58A:p.A20T;ENSG00000141469:ENST00000586142:exon6:c.G946A:p.A316T;ENSG00000141469:ENST00000402943:exon7:c.G631A:p.A211T;ENSG00000141469:ENST00000436407:exon7:c.G1114A:p.A372T;ENSG00000141469:ENST00000415427:exon9:c.G1114A:p.A372T;	0.99998116674407	0.99
18	43319627	G	C	18	45739662	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G1114C:p.A372P;SLC14A1:NM_001128588:exon9:c.G1114C:p.A372P;SLC14A1:NM_001146036:exon9:c.G946C:p.A316P;SLC14A1:NM_015865:exon8:c.G946C:p.A316P;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G946C:p.A316P;ENSG00000141469:ENST00000502059:exon7:c.G622C:p.A208P;ENSG00000141469:ENST00000535474:exon6:c.G550C:p.A184P;ENSG00000141469:ENST00000591541:exon1:c.G58C:p.A20P;ENSG00000141469:ENST00000586142:exon6:c.G946C:p.A316P;ENSG00000141469:ENST00000402943:exon7:c.G631C:p.A211P;ENSG00000141469:ENST00000436407:exon7:c.G1114C:p.A372P;ENSG00000141469:ENST00000415427:exon9:c.G1114C:p.A372P;	0.999987745266259	0.94
18	43319627	G	T	18	45739662	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon7:c.G1114T:p.A372S;SLC14A1:NM_001128588:exon9:c.G1114T:p.A372S;SLC14A1:NM_001146036:exon9:c.G946T:p.A316S;SLC14A1:NM_015865:exon8:c.G946T:p.A316S;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon8:c.G946T:p.A316S;ENSG00000141469:ENST00000502059:exon7:c.G622T:p.A208S;ENSG00000141469:ENST00000535474:exon6:c.G550T:p.A184S;ENSG00000141469:ENST00000591541:exon1:c.G58T:p.A20S;ENSG00000141469:ENST00000586142:exon6:c.G946T:p.A316S;ENSG00000141469:ENST00000402943:exon7:c.G631T:p.A211S;ENSG00000141469:ENST00000436407:exon7:c.G1114T:p.A372S;ENSG00000141469:ENST00000415427:exon9:c.G1114T:p.A372S;	0.999972279364742	0.992
18	43319628	G	A	18	45739663	y	y	splicing	SLC14A1(NM_001146036:exon9:c.946+1G>A;NM_015865:exon8:c.946+1G>A;NM_001128588:exon9:c.1114+1G>A;NM_001146037:exon7:c.1114+1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.946+1G>A;ENST00000502059:exon7:c.622+1G>A;ENST00000402943:exon7:c.631+1G>A;ENST00000535474:exon6:c.550+1G>A;ENST00000415427:exon9:c.1114+1G>A;ENST00000588179:exon8:c.921+1G>A;ENST00000436407:exon7:c.1114+1G>A;ENST00000586142:exon6:c.946+1G>A;ENST00000589700:exon5:c.798+1G>A;ENST00000591541:exon1:c.58+1G>A)	.	.	0.999988286667075	0.926
18	43319628	G	C	18	45739663	y	y	splicing	SLC14A1(NM_001146036:exon9:c.946+1G>C;NM_015865:exon8:c.946+1G>C;NM_001128588:exon9:c.1114+1G>C;NM_001146037:exon7:c.1114+1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.946+1G>C;ENST00000502059:exon7:c.622+1G>C;ENST00000402943:exon7:c.631+1G>C;ENST00000535474:exon6:c.550+1G>C;ENST00000415427:exon9:c.1114+1G>C;ENST00000588179:exon8:c.921+1G>C;ENST00000436407:exon7:c.1114+1G>C;ENST00000586142:exon6:c.946+1G>C;ENST00000589700:exon5:c.798+1G>C;ENST00000591541:exon1:c.58+1G>C)	.	.	0.999969773721307	0.924
18	43319628	G	T	18	45739663	y	y	splicing	SLC14A1(NM_001146036:exon9:c.946+1G>T;NM_015865:exon8:c.946+1G>T;NM_001128588:exon9:c.1114+1G>T;NM_001146037:exon7:c.1114+1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.946+1G>T;ENST00000502059:exon7:c.622+1G>T;ENST00000402943:exon7:c.631+1G>T;ENST00000535474:exon6:c.550+1G>T;ENST00000415427:exon9:c.1114+1G>T;ENST00000588179:exon8:c.921+1G>T;ENST00000436407:exon7:c.1114+1G>T;ENST00000586142:exon6:c.946+1G>T;ENST00000589700:exon5:c.798+1G>T;ENST00000591541:exon1:c.58+1G>T)	.	.	0.999988286667075	0.924
18	43319629	T	A	18	45739664	y	y	splicing	SLC14A1(NM_001146036:exon9:c.946+2T>A;NM_015865:exon8:c.946+2T>A;NM_001128588:exon9:c.1114+2T>A;NM_001146037:exon7:c.1114+2T>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.946+2T>A;ENST00000502059:exon7:c.622+2T>A;ENST00000402943:exon7:c.631+2T>A;ENST00000535474:exon6:c.550+2T>A;ENST00000415427:exon9:c.1114+2T>A;ENST00000588179:exon8:c.921+2T>A;ENST00000436407:exon7:c.1114+2T>A;ENST00000586142:exon6:c.946+2T>A;ENST00000589700:exon5:c.798+2T>A;ENST00000591541:exon1:c.58+2T>A)	.	.	0.999988247793601	0.926
18	43319629	T	C	18	45739664	y	y	splicing	SLC14A1(NM_001146036:exon9:c.946+2T>C;NM_015865:exon8:c.946+2T>C;NM_001128588:exon9:c.1114+2T>C;NM_001146037:exon7:c.1114+2T>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.946+2T>C;ENST00000502059:exon7:c.622+2T>C;ENST00000402943:exon7:c.631+2T>C;ENST00000535474:exon6:c.550+2T>C;ENST00000415427:exon9:c.1114+2T>C;ENST00000588179:exon8:c.921+2T>C;ENST00000436407:exon7:c.1114+2T>C;ENST00000586142:exon6:c.946+2T>C;ENST00000589700:exon5:c.798+2T>C;ENST00000591541:exon1:c.58+2T>C)	.	.	0.999943260809542	0.858
18	43319629	T	G	18	45739664	y	y	splicing	SLC14A1(NM_001146036:exon9:c.946+2T>G;NM_015865:exon8:c.946+2T>G;NM_001128588:exon9:c.1114+2T>G;NM_001146037:exon7:c.1114+2T>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon8:c.946+2T>G;ENST00000502059:exon7:c.622+2T>G;ENST00000402943:exon7:c.631+2T>G;ENST00000535474:exon6:c.550+2T>G;ENST00000415427:exon9:c.1114+2T>G;ENST00000588179:exon8:c.921+2T>G;ENST00000436407:exon7:c.1114+2T>G;ENST00000586142:exon6:c.946+2T>G;ENST00000589700:exon5:c.798+2T>G;ENST00000591541:exon1:c.58+2T>G)	.	.	0.999988247793601	0.914
18	43319630	G	A	18	45739665	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.77031894251346E-4	0.0
18	43319630	G	C	18	45739665	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.903521826949529	0.582
18	43319630	G	T	18	45739665	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.875712353184759	0.518
18	43319631	A	C	18	45739666	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.631824532869136	0.614
18	43319631	A	G	18	45739666	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.975838474950733	0.72
18	43319631	A	T	18	45739666	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.972878541744993	0.756
18	43319632	G	A	18	45739667	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999908589794892	0.954
18	43319632	G	C	18	45739667	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999954483442255	0.954
18	43319632	G	T	18	45739667	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.999970547834855	0.984
18	43319633	T	A	18	45739668	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.973604375639518	0.646
18	43319633	T	C	18	45739668	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.531688502043383	0.504
18	43319633	T	G	18	45739668	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	0.399421964940609	0.444
18	43319634	C	A	18	45739669	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	4.05805472570506E-5	0.016
18	43319634	C	G	18	45739669	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	7.04413408461795E-5	0.02
18	43319634	C	T	18	45739669	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	3.12871664385075E-4	0.004
18	43319635	T	A	18	45739670	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.75802861159974E-4	0.0
18	43319635	T	C	18	45739670	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.07266825817977E-4	0.008
18	43319635	T	G	18	45739670	y	y	intronic	SLC14A1	.	.	ncRNA_intronic	ENSG00000267193	.	.	1.51468404112501E-4	0.0
18	43328329	T	A	18	45748364	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.98241078984506E-4	0.046
18	43328329	T	C	18	45748364	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	5.03189033068577E-5	0.006
18	43328329	T	G	18	45748364	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.47304111075418E-4	0.072
18	43328330	T	A	18	45748365	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	4.08014270793997E-4	0.14
18	43328330	T	C	18	45748365	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.64592569119245E-4	0.038
18	43328330	T	G	18	45748365	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	2.58367940620609E-4	0.166
18	43328331	T	A	18	45748366	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.00145815856750432	0.08
18	43328331	T	C	18	45748366	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	6.85334919704203E-4	0.012
18	43328331	T	G	18	45748366	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.00181758855753477	0.108
18	43328332	T	A	18	45748367	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.42384377522355E-4	0.098
18	43328332	T	C	18	45748367	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	6.73979992552154E-5	0.036
18	43328332	T	G	18	45748367	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	3.151848669204E-4	0.09
18	43328333	T	A	18	45748368	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.00152309086265188	0.076
18	43328333	T	C	18	45748368	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.17249553622735E-4	0.012
18	43328333	T	G	18	45748368	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	5.10097017957978E-4	0.054
18	43328334	T	A	18	45748369	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.42122971886031E-4	0.01
18	43328334	T	C	18	45748369	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	4.19850295465516E-5	0.0
18	43328334	T	G	18	45748369	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	7.3386579909001E-5	0.02
18	43328335	C	A	18	45748370	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.41032681464316E-4	0.09
18	43328335	C	G	18	45748370	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	9.8096917490899E-5	0.052
18	43328335	C	T	18	45748370	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	2.58503616001298E-5	0.0
18	43328336	T	A	18	45748371	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.999485167241439	0.912
18	43328336	T	C	18	45748371	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	8.87985829318898E-5	0.014
18	43328336	T	G	18	45748371	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.00115840629524233	0.188
18	43328337	G	A	18	45748372	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	6.83084187034674E-5	0.008
18	43328337	G	C	18	45748372	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	7.62939846955877E-5	0.002
18	43328337	G	T	18	45748372	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.81942753206375E-4	0.016
18	43328338	T	A	18	45748373	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.0043594621977192	0.166
18	43328338	T	C	18	45748373	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	3.56292374348468E-5	0.0
18	43328338	T	G	18	45748373	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.926940287820719	0.672
18	43328339	A	C	18	45748374	y	y	splicing	SLC14A1(NM_001146036:exon10:c.947-2A>C;NM_015865:exon9:c.947-2A>C;NM_001128588:exon10:c.1115-2A>C;NM_001146037:exon8:c.1115-2A>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.947-2A>C;ENST00000502059:exon8:c.623-2A>C;ENST00000402943:exon8:c.632-2A>C;ENST00000535474:exon7:c.551-2A>C;ENST00000415427:exon10:c.1115-2A>C;ENST00000588179:exon9:c.922-2A>C;ENST00000436407:exon8:c.1115-2A>C;ENST00000586142:exon7:c.947-2A>C;ENST00000589700:exon6:c.799-2A>C;ENST00000590377:exon4:c.387-2A>C;ENST00000591541:exon2:c.59-2A>C)	.	.	0.999988247793601	0.93
18	43328339	A	G	18	45748374	y	y	splicing	SLC14A1(NM_001146036:exon10:c.947-2A>G;NM_015865:exon9:c.947-2A>G;NM_001128588:exon10:c.1115-2A>G;NM_001146037:exon8:c.1115-2A>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.947-2A>G;ENST00000502059:exon8:c.623-2A>G;ENST00000402943:exon8:c.632-2A>G;ENST00000535474:exon7:c.551-2A>G;ENST00000415427:exon10:c.1115-2A>G;ENST00000588179:exon9:c.922-2A>G;ENST00000436407:exon8:c.1115-2A>G;ENST00000586142:exon7:c.947-2A>G;ENST00000589700:exon6:c.799-2A>G;ENST00000590377:exon4:c.387-2A>G;ENST00000591541:exon2:c.59-2A>G)	.	.	0.999988247793601	0.93
18	43328339	A	T	18	45748374	y	y	splicing	SLC14A1(NM_001146036:exon10:c.947-2A>T;NM_015865:exon9:c.947-2A>T;NM_001128588:exon10:c.1115-2A>T;NM_001146037:exon8:c.1115-2A>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.947-2A>T;ENST00000502059:exon8:c.623-2A>T;ENST00000402943:exon8:c.632-2A>T;ENST00000535474:exon7:c.551-2A>T;ENST00000415427:exon10:c.1115-2A>T;ENST00000588179:exon9:c.922-2A>T;ENST00000436407:exon8:c.1115-2A>T;ENST00000586142:exon7:c.947-2A>T;ENST00000589700:exon6:c.799-2A>T;ENST00000590377:exon4:c.387-2A>T;ENST00000591541:exon2:c.59-2A>T)	.	.	0.999988247793601	0.93
18	43328340	G	A	18	45748375	y	y	splicing	SLC14A1(NM_001146036:exon10:c.947-1G>A;NM_015865:exon9:c.947-1G>A;NM_001128588:exon10:c.1115-1G>A;NM_001146037:exon8:c.1115-1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.947-1G>A;ENST00000502059:exon8:c.623-1G>A;ENST00000402943:exon8:c.632-1G>A;ENST00000535474:exon7:c.551-1G>A;ENST00000415427:exon10:c.1115-1G>A;ENST00000588179:exon9:c.922-1G>A;ENST00000436407:exon8:c.1115-1G>A;ENST00000586142:exon7:c.947-1G>A;ENST00000589700:exon6:c.799-1G>A;ENST00000590377:exon4:c.387-1G>A;ENST00000591541:exon2:c.59-1G>A)	.	.	0.999990361384395	0.938
18	43328340	G	C	18	45748375	y	y	splicing	SLC14A1(NM_001146036:exon10:c.947-1G>C;NM_015865:exon9:c.947-1G>C;NM_001128588:exon10:c.1115-1G>C;NM_001146037:exon8:c.1115-1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.947-1G>C;ENST00000502059:exon8:c.623-1G>C;ENST00000402943:exon8:c.632-1G>C;ENST00000535474:exon7:c.551-1G>C;ENST00000415427:exon10:c.1115-1G>C;ENST00000588179:exon9:c.922-1G>C;ENST00000436407:exon8:c.1115-1G>C;ENST00000586142:exon7:c.947-1G>C;ENST00000589700:exon6:c.799-1G>C;ENST00000590377:exon4:c.387-1G>C;ENST00000591541:exon2:c.59-1G>C)	.	.	0.999990361384395	0.938
18	43328340	G	T	18	45748375	y	y	splicing	SLC14A1(NM_001146036:exon10:c.947-1G>T;NM_015865:exon9:c.947-1G>T;NM_001128588:exon10:c.1115-1G>T;NM_001146037:exon8:c.1115-1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.947-1G>T;ENST00000502059:exon8:c.623-1G>T;ENST00000402943:exon8:c.632-1G>T;ENST00000535474:exon7:c.551-1G>T;ENST00000415427:exon10:c.1115-1G>T;ENST00000588179:exon9:c.922-1G>T;ENST00000436407:exon8:c.1115-1G>T;ENST00000586142:exon7:c.947-1G>T;ENST00000589700:exon6:c.799-1G>T;ENST00000590377:exon4:c.387-1G>T;ENST00000591541:exon2:c.59-1G>T)	.	.	0.999990361384395	0.938
18	43328341	C	A	18	45748376	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.C1115A:p.A372D;SLC14A1:NM_001128588:exon10:c.C1115A:p.A372D;SLC14A1:NM_001146036:exon10:c.C947A:p.A316D;SLC14A1:NM_015865:exon9:c.C947A:p.A316D;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.C947A:p.A316D;ENSG00000141469:ENST00000502059:exon8:c.C623A:p.A208D;ENSG00000141469:ENST00000535474:exon7:c.C551A:p.A184D;ENSG00000141469:ENST00000591541:exon2:c.C59A:p.A20D;ENSG00000141469:ENST00000586142:exon7:c.C947A:p.A316D;ENSG00000141469:ENST00000589700:exon6:c.C799A:p.P267T;ENSG00000141469:ENST00000402943:exon8:c.C632A:p.A211D;ENSG00000141469:ENST00000436407:exon8:c.C1115A:p.A372D;ENSG00000141469:ENST00000415427:exon10:c.C1115A:p.A372D;	0.245289939995273	0.546
18	43328341	C	G	18	45748376	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.C1115G:p.A372G;SLC14A1:NM_001128588:exon10:c.C1115G:p.A372G;SLC14A1:NM_001146036:exon10:c.C947G:p.A316G;SLC14A1:NM_015865:exon9:c.C947G:p.A316G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.C947G:p.A316G;ENSG00000141469:ENST00000502059:exon8:c.C623G:p.A208G;ENSG00000141469:ENST00000535474:exon7:c.C551G:p.A184G;ENSG00000141469:ENST00000591541:exon2:c.C59G:p.A20G;ENSG00000141469:ENST00000586142:exon7:c.C947G:p.A316G;ENSG00000141469:ENST00000589700:exon6:c.C799G:p.P267A;ENSG00000141469:ENST00000402943:exon8:c.C632G:p.A211G;ENSG00000141469:ENST00000436407:exon8:c.C1115G:p.A372G;ENSG00000141469:ENST00000415427:exon10:c.C1115G:p.A372G;	0.0192904774891989	0.214
18	43328341	C	T	18	45748376	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.C1115T:p.A372V;SLC14A1:NM_001128588:exon10:c.C1115T:p.A372V;SLC14A1:NM_001146036:exon10:c.C947T:p.A316V;SLC14A1:NM_015865:exon9:c.C947T:p.A316V;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.C947T:p.A316V;ENSG00000141469:ENST00000502059:exon8:c.C623T:p.A208V;ENSG00000141469:ENST00000535474:exon7:c.C551T:p.A184V;ENSG00000141469:ENST00000591541:exon2:c.C59T:p.A20V;ENSG00000141469:ENST00000586142:exon7:c.C947T:p.A316V;ENSG00000141469:ENST00000589700:exon6:c.C799T:p.P267S;ENSG00000141469:ENST00000402943:exon8:c.C632T:p.A211V;ENSG00000141469:ENST00000436407:exon8:c.C1115T:p.A372V;ENSG00000141469:ENST00000415427:exon10:c.C1115T:p.A372V;	0.309195495256413	0.588
18	43328342	C	A	18	45748377	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon8:c.C1116A:p.A372A;SLC14A1:NM_001128588:exon10:c.C1116A:p.A372A;SLC14A1:NM_001146036:exon10:c.C948A:p.A316A;SLC14A1:NM_015865:exon9:c.C948A:p.A316A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000589700:exon6:c.C800A:p.P267H;	6.11866761495999E-4	0.066
18	43328342	C	G	18	45748377	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon8:c.C1116G:p.A372A;SLC14A1:NM_001128588:exon10:c.C1116G:p.A372A;SLC14A1:NM_001146036:exon10:c.C948G:p.A316A;SLC14A1:NM_015865:exon9:c.C948G:p.A316A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000589700:exon6:c.C800G:p.P267R;	2.08162445722878E-4	0.022
18	43328342	C	T	18	45748377	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon8:c.C1116T:p.A372A;SLC14A1:NM_001128588:exon10:c.C1116T:p.A372A;SLC14A1:NM_001146036:exon10:c.C948T:p.A316A;SLC14A1:NM_015865:exon9:c.C948T:p.A316A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000589700:exon6:c.C800T:p.P267L;	2.03383667558961E-4	0.0
18	43328388	G	A	18	45748423	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.G1162A:p.E388K;SLC14A1:NM_001128588:exon10:c.G1162A:p.E388K;SLC14A1:NM_001146036:exon10:c.G994A:p.E332K;SLC14A1:NM_015865:exon9:c.G994A:p.E332K;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.G994A:p.E332K;ENSG00000141469:ENST00000502059:exon8:c.G670A:p.E224K;ENSG00000141469:ENST00000535474:exon7:c.G598A:p.E200K;ENSG00000141469:ENST00000591541:exon2:c.G106A:p.E36K;ENSG00000141469:ENST00000586142:exon7:c.G994A:p.E332K;ENSG00000141469:ENST00000402943:exon8:c.G679A:p.E227K;ENSG00000141469:ENST00000436407:exon8:c.G1162A:p.E388K;ENSG00000141469:ENST00000415427:exon10:c.G1162A:p.E388K;	1.97018975761258E-5	0.0
18	43328388	G	C	18	45748423	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.G1162C:p.E388Q;SLC14A1:NM_001128588:exon10:c.G1162C:p.E388Q;SLC14A1:NM_001146036:exon10:c.G994C:p.E332Q;SLC14A1:NM_015865:exon9:c.G994C:p.E332Q;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.G994C:p.E332Q;ENSG00000141469:ENST00000502059:exon8:c.G670C:p.E224Q;ENSG00000141469:ENST00000535474:exon7:c.G598C:p.E200Q;ENSG00000141469:ENST00000591541:exon2:c.G106C:p.E36Q;ENSG00000141469:ENST00000586142:exon7:c.G994C:p.E332Q;ENSG00000141469:ENST00000402943:exon8:c.G679C:p.E227Q;ENSG00000141469:ENST00000436407:exon8:c.G1162C:p.E388Q;ENSG00000141469:ENST00000415427:exon10:c.G1162C:p.E388Q;	1.97018975761258E-5	0.002
18	43328388	G	T	18	45748423	y	y	exonic	SLC14A1	stopgain SNV	SLC14A1:NM_001146037:exon8:c.G1162T:p.E388X;SLC14A1:NM_001128588:exon10:c.G1162T:p.E388X;SLC14A1:NM_001146036:exon10:c.G994T:p.E332X;SLC14A1:NM_015865:exon9:c.G994T:p.E332X;	exonic	ENSG00000141469	stopgain SNV	ENSG00000141469:ENST00000321925:exon9:c.G994T:p.E332X;ENSG00000141469:ENST00000502059:exon8:c.G670T:p.E224X;ENSG00000141469:ENST00000535474:exon7:c.G598T:p.E200X;ENSG00000141469:ENST00000591541:exon2:c.G106T:p.E36X;ENSG00000141469:ENST00000586142:exon7:c.G994T:p.E332X;ENSG00000141469:ENST00000402943:exon8:c.G679T:p.E227X;ENSG00000141469:ENST00000436407:exon8:c.G1162T:p.E388X;ENSG00000141469:ENST00000415427:exon10:c.G1162T:p.E388X;	8.79124682611248E-5	0.132
18	43328389	A	C	18	45748424	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.A1163C:p.E388A;SLC14A1:NM_001128588:exon10:c.A1163C:p.E388A;SLC14A1:NM_001146036:exon10:c.A995C:p.E332A;SLC14A1:NM_015865:exon9:c.A995C:p.E332A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.A995C:p.E332A;ENSG00000141469:ENST00000502059:exon8:c.A671C:p.E224A;ENSG00000141469:ENST00000535474:exon7:c.A599C:p.E200A;ENSG00000141469:ENST00000591541:exon2:c.A107C:p.E36A;ENSG00000141469:ENST00000586142:exon7:c.A995C:p.E332A;ENSG00000141469:ENST00000402943:exon8:c.A680C:p.E227A;ENSG00000141469:ENST00000436407:exon8:c.A1163C:p.E388A;ENSG00000141469:ENST00000415427:exon10:c.A1163C:p.E388A;	0.0147335898519761	0.34
18	43328389	A	G	18	45748424	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.A1163G:p.E388G;SLC14A1:NM_001128588:exon10:c.A1163G:p.E388G;SLC14A1:NM_001146036:exon10:c.A995G:p.E332G;SLC14A1:NM_015865:exon9:c.A995G:p.E332G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.A995G:p.E332G;ENSG00000141469:ENST00000502059:exon8:c.A671G:p.E224G;ENSG00000141469:ENST00000535474:exon7:c.A599G:p.E200G;ENSG00000141469:ENST00000591541:exon2:c.A107G:p.E36G;ENSG00000141469:ENST00000586142:exon7:c.A995G:p.E332G;ENSG00000141469:ENST00000589700:exon6:c.A847G:p.R283G;ENSG00000141469:ENST00000402943:exon8:c.A680G:p.E227G;ENSG00000141469:ENST00000436407:exon8:c.A1163G:p.E388G;ENSG00000141469:ENST00000415427:exon10:c.A1163G:p.E388G;	0.0290362020053781	0.258
18	43328389	A	T	18	45748424	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.A1163T:p.E388V;SLC14A1:NM_001128588:exon10:c.A1163T:p.E388V;SLC14A1:NM_001146036:exon10:c.A995T:p.E332V;SLC14A1:NM_015865:exon9:c.A995T:p.E332V;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.A995T:p.E332V;ENSG00000141469:ENST00000502059:exon8:c.A671T:p.E224V;ENSG00000141469:ENST00000535474:exon7:c.A599T:p.E200V;ENSG00000141469:ENST00000591541:exon2:c.A107T:p.E36V;ENSG00000141469:ENST00000586142:exon7:c.A995T:p.E332V;ENSG00000141469:ENST00000589700:exon6:c.A847T:p.R283W;ENSG00000141469:ENST00000402943:exon8:c.A680T:p.E227V;ENSG00000141469:ENST00000436407:exon8:c.A1163T:p.E388V;ENSG00000141469:ENST00000415427:exon10:c.A1163T:p.E388V;	0.0203875440682071	0.314
18	43328390	G	A	18	45748425	y	y	exonic	SLC14A1	synonymous SNV	SLC14A1:NM_001146037:exon8:c.G1164A:p.E388E;SLC14A1:NM_001128588:exon10:c.G1164A:p.E388E;SLC14A1:NM_001146036:exon10:c.G996A:p.E332E;SLC14A1:NM_015865:exon9:c.G996A:p.E332E;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000589700:exon6:c.G848A:p.R283K;	0.385286521301654	0.392
18	43328390	G	C	18	45748425	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.G1164C:p.E388D;SLC14A1:NM_001128588:exon10:c.G1164C:p.E388D;SLC14A1:NM_001146036:exon10:c.G996C:p.E332D;SLC14A1:NM_015865:exon9:c.G996C:p.E332D;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.G996C:p.E332D;ENSG00000141469:ENST00000502059:exon8:c.G672C:p.E224D;ENSG00000141469:ENST00000535474:exon7:c.G600C:p.E200D;ENSG00000141469:ENST00000591541:exon2:c.G108C:p.E36D;ENSG00000141469:ENST00000586142:exon7:c.G996C:p.E332D;ENSG00000141469:ENST00000589700:exon6:c.G848C:p.R283T;ENSG00000141469:ENST00000402943:exon8:c.G681C:p.E227D;ENSG00000141469:ENST00000436407:exon8:c.G1164C:p.E388D;ENSG00000141469:ENST00000415427:exon10:c.G1164C:p.E388D;	0.737525376107044	0.538
18	43328390	G	T	18	45748425	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon8:c.G1164T:p.E388D;SLC14A1:NM_001128588:exon10:c.G1164T:p.E388D;SLC14A1:NM_001146036:exon10:c.G996T:p.E332D;SLC14A1:NM_015865:exon9:c.G996T:p.E332D;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon9:c.G996T:p.E332D;ENSG00000141469:ENST00000502059:exon8:c.G672T:p.E224D;ENSG00000141469:ENST00000535474:exon7:c.G600T:p.E200D;ENSG00000141469:ENST00000591541:exon2:c.G108T:p.E36D;ENSG00000141469:ENST00000586142:exon7:c.G996T:p.E332D;ENSG00000141469:ENST00000589700:exon6:c.G848T:p.R283M;ENSG00000141469:ENST00000402943:exon8:c.G681T:p.E227D;ENSG00000141469:ENST00000436407:exon8:c.G1164T:p.E388D;ENSG00000141469:ENST00000415427:exon10:c.G1164T:p.E388D;	0.94033437024642	0.46
18	43328391	G	A	18	45748426	y	y	splicing	SLC14A1(NM_001146036:exon10:c.996+1G>A;NM_015865:exon9:c.996+1G>A;NM_001128588:exon10:c.1164+1G>A;NM_001146037:exon8:c.1164+1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.996+1G>A;ENST00000502059:exon8:c.672+1G>A;ENST00000402943:exon8:c.681+1G>A;ENST00000535474:exon7:c.600+1G>A;ENST00000415427:exon10:c.1164+1G>A;ENST00000588179:exon9:c.971+1G>A;ENST00000436407:exon8:c.1164+1G>A;ENST00000586142:exon7:c.996+1G>A;ENST00000589700:exon6:c.848+1G>A;ENST00000590377:exon4:c.436+1G>A;ENST00000591541:exon2:c.108+1G>A)	.	.	0.999977162774916	0.844
18	43328391	G	C	18	45748426	y	y	splicing	SLC14A1(NM_001146036:exon10:c.996+1G>C;NM_015865:exon9:c.996+1G>C;NM_001128588:exon10:c.1164+1G>C;NM_001146037:exon8:c.1164+1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.996+1G>C;ENST00000502059:exon8:c.672+1G>C;ENST00000402943:exon8:c.681+1G>C;ENST00000535474:exon7:c.600+1G>C;ENST00000415427:exon10:c.1164+1G>C;ENST00000588179:exon9:c.971+1G>C;ENST00000436407:exon8:c.1164+1G>C;ENST00000586142:exon7:c.996+1G>C;ENST00000589700:exon6:c.848+1G>C;ENST00000590377:exon4:c.436+1G>C;ENST00000591541:exon2:c.108+1G>C)	.	.	0.999974785031454	0.878
18	43328391	G	T	18	45748426	y	y	splicing	SLC14A1(NM_001146036:exon10:c.996+1G>T;NM_015865:exon9:c.996+1G>T;NM_001128588:exon10:c.1164+1G>T;NM_001146037:exon8:c.1164+1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.996+1G>T;ENST00000502059:exon8:c.672+1G>T;ENST00000402943:exon8:c.681+1G>T;ENST00000535474:exon7:c.600+1G>T;ENST00000415427:exon10:c.1164+1G>T;ENST00000588179:exon9:c.971+1G>T;ENST00000436407:exon8:c.1164+1G>T;ENST00000586142:exon7:c.996+1G>T;ENST00000589700:exon6:c.848+1G>T;ENST00000590377:exon4:c.436+1G>T;ENST00000591541:exon2:c.108+1G>T)	.	.	0.999977162774916	0.884
18	43328392	T	A	18	45748427	y	y	splicing	SLC14A1(NM_001146036:exon10:c.996+2T>A;NM_015865:exon9:c.996+2T>A;NM_001128588:exon10:c.1164+2T>A;NM_001146037:exon8:c.1164+2T>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.996+2T>A;ENST00000502059:exon8:c.672+2T>A;ENST00000402943:exon8:c.681+2T>A;ENST00000535474:exon7:c.600+2T>A;ENST00000415427:exon10:c.1164+2T>A;ENST00000588179:exon9:c.971+2T>A;ENST00000436407:exon8:c.1164+2T>A;ENST00000586142:exon7:c.996+2T>A;ENST00000589700:exon6:c.848+2T>A;ENST00000590377:exon4:c.436+2T>A;ENST00000591541:exon2:c.108+2T>A)	.	.	0.999972871252391	0.882
18	43328392	T	C	18	45748427	y	y	splicing	SLC14A1(NM_001146036:exon10:c.996+2T>C;NM_015865:exon9:c.996+2T>C;NM_001128588:exon10:c.1164+2T>C;NM_001146037:exon8:c.1164+2T>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.996+2T>C;ENST00000502059:exon8:c.672+2T>C;ENST00000402943:exon8:c.681+2T>C;ENST00000535474:exon7:c.600+2T>C;ENST00000415427:exon10:c.1164+2T>C;ENST00000588179:exon9:c.971+2T>C;ENST00000436407:exon8:c.1164+2T>C;ENST00000586142:exon7:c.996+2T>C;ENST00000589700:exon6:c.848+2T>C;ENST00000590377:exon4:c.436+2T>C;ENST00000591541:exon2:c.108+2T>C)	.	.	0.999694152815542	0.816
18	43328392	T	G	18	45748427	y	y	splicing	SLC14A1(NM_001146036:exon10:c.996+2T>G;NM_015865:exon9:c.996+2T>G;NM_001128588:exon10:c.1164+2T>G;NM_001146037:exon8:c.1164+2T>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon9:c.996+2T>G;ENST00000502059:exon8:c.672+2T>G;ENST00000402943:exon8:c.681+2T>G;ENST00000535474:exon7:c.600+2T>G;ENST00000415427:exon10:c.1164+2T>G;ENST00000588179:exon9:c.971+2T>G;ENST00000436407:exon8:c.1164+2T>G;ENST00000586142:exon7:c.996+2T>G;ENST00000589700:exon6:c.848+2T>G;ENST00000590377:exon4:c.436+2T>G;ENST00000591541:exon2:c.108+2T>G)	.	.	0.999969255906173	0.872
18	43328393	G	A	18	45748428	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	4.51052055688095E-5	0.002
18	43328393	G	C	18	45748428	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.0475806154794741	0.438
18	43328393	G	T	18	45748428	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.0712800952944691	0.37
18	43328394	A	C	18	45748429	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.664870037229426	0.504
18	43328394	A	G	18	45748429	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.760165291851244	0.542
18	43328394	A	T	18	45748429	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.972042360040833	0.662
18	43328395	G	A	18	45748430	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.999805676368823	0.686
18	43328395	G	C	18	45748430	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.999862395616685	0.724
18	43328395	G	T	18	45748430	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.999890388615462	0.69
18	43328396	T	A	18	45748431	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.451988815064447	0.514
18	43328396	T	C	18	45748431	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.615705300050465	0.454
18	43328396	T	G	18	45748431	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.0288325532048626	0.39
18	43328397	T	A	18	45748432	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	3.46425991095372E-5	0.0
18	43328397	T	C	18	45748432	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	3.13879224812485E-5	0.0
18	43328397	T	G	18	45748432	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	3.13879224812485E-5	0.0
18	43328398	T	A	18	45748433	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.07902708129146E-4	0.002
18	43328398	T	C	18	45748433	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	7.49293461246564E-5	0.0
18	43328398	T	G	18	45748433	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	6.34301907073407E-5	0.0
18	43329731	C	A	18	45749766	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.43432331499009E-4	0.038
18	43329731	C	G	18	45749766	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	7.05990270027064E-5	0.026
18	43329731	C	T	18	45749766	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	8.69390016086687E-5	0.002
18	43329732	T	A	18	45749767	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	5.86956957159227E-4	0.17
18	43329732	T	C	18	45749767	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	6.52003752452533E-4	0.098
18	43329732	T	G	18	45749767	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	8.41472712074917E-4	0.202
18	43329733	T	A	18	45749768	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.0022833638026676	0.182
18	43329733	T	C	18	45749768	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.07017422726717E-4	0.006
18	43329733	T	G	18	45749768	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	8.02659259169476E-4	0.09
18	43329734	C	A	18	45749769	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	6.84573586775268E-5	0.008
18	43329734	C	G	18	45749769	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	5.21030652254028E-5	0.002
18	43329734	C	T	18	45749769	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.29466599534024E-5	0.0
18	43329735	T	A	18	45749770	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	7.68414882904589E-5	0.012
18	43329735	T	C	18	45749770	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.3169336731735E-5	0.0
18	43329735	T	G	18	45749770	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	3.61429840399436E-5	0.016
18	43329736	T	A	18	45749771	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	5.34523271229086E-4	0.088
18	43329736	T	C	18	45749771	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	7.67327354236112E-6	0.0
18	43329736	T	G	18	45749771	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.25490913810216E-4	0.01
18	43329737	C	A	18	45749772	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	8.33385716641822E-4	0.082
18	43329737	C	G	18	45749772	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	9.47975041587513E-4	0.09
18	43329737	C	T	18	45749772	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.98274436957438E-5	0.052
18	43329738	C	A	18	45749773	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	9.22562616258517E-5	0.016
18	43329738	C	G	18	45749773	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	2.45690592172551E-4	0.062
18	43329738	C	T	18	45749773	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	1.79740160590317E-5	0.0
18	43329739	C	A	18	45749774	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	4.13545327611362E-5	0.0
18	43329739	C	G	18	45749774	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	4.13545327611362E-5	0.0
18	43329739	C	T	18	45749774	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	5.23476456190856E-5	0.0
18	43329740	C	A	18	45749775	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.154860447353139	0.498
18	43329740	C	G	18	45749775	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	0.977913036600906	0.794
18	43329740	C	T	18	45749775	y	y	intronic	SLC14A1	.	.	intronic	ENSG00000141469	.	.	3.88736108789532E-4	0.034
18	43329741	A	C	18	45749776	y	y	splicing	SLC14A1(NM_001146036:exon11:c.997-2A>C;NM_015865:exon10:c.997-2A>C;NM_001128588:exon11:c.1165-2A>C;NM_001146037:exon9:c.1165-2A>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon10:c.997-2A>C;ENST00000502059:exon9:c.673-2A>C;ENST00000402943:exon9:c.682-2A>C;ENST00000535474:exon8:c.601-2A>C;ENST00000415427:exon11:c.1165-2A>C;ENST00000588179:exon10:c.972-2A>C;ENST00000436407:exon9:c.1165-2A>C;ENST00000586142:exon8:c.997-2A>C;ENST00000589700:exon7:c.849-2A>C;ENST00000591541:exon3:c.109-2A>C)	.	.	0.999970661931818	0.926
18	43329741	A	G	18	45749776	y	y	splicing	SLC14A1(NM_001146036:exon11:c.997-2A>G;NM_015865:exon10:c.997-2A>G;NM_001128588:exon11:c.1165-2A>G;NM_001146037:exon9:c.1165-2A>G)	.	.	splicing	ENSG00000141469(ENST00000321925:exon10:c.997-2A>G;ENST00000502059:exon9:c.673-2A>G;ENST00000402943:exon9:c.682-2A>G;ENST00000535474:exon8:c.601-2A>G;ENST00000415427:exon11:c.1165-2A>G;ENST00000588179:exon10:c.972-2A>G;ENST00000436407:exon9:c.1165-2A>G;ENST00000586142:exon8:c.997-2A>G;ENST00000589700:exon7:c.849-2A>G;ENST00000591541:exon3:c.109-2A>G)	.	.	0.99994568797423	0.926
18	43329741	A	T	18	45749776	y	y	splicing	SLC14A1(NM_001146036:exon11:c.997-2A>T;NM_015865:exon10:c.997-2A>T;NM_001128588:exon11:c.1165-2A>T;NM_001146037:exon9:c.1165-2A>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon10:c.997-2A>T;ENST00000502059:exon9:c.673-2A>T;ENST00000402943:exon9:c.682-2A>T;ENST00000535474:exon8:c.601-2A>T;ENST00000415427:exon11:c.1165-2A>T;ENST00000588179:exon10:c.972-2A>T;ENST00000436407:exon9:c.1165-2A>T;ENST00000586142:exon8:c.997-2A>T;ENST00000589700:exon7:c.849-2A>T;ENST00000591541:exon3:c.109-2A>T)	.	.	0.999978952611685	0.928
18	43329742	G	A	18	45749777	y	y	splicing	SLC14A1(NM_001146036:exon11:c.997-1G>A;NM_015865:exon10:c.997-1G>A;NM_001128588:exon11:c.1165-1G>A;NM_001146037:exon9:c.1165-1G>A)	.	.	splicing	ENSG00000141469(ENST00000321925:exon10:c.997-1G>A;ENST00000502059:exon9:c.673-1G>A;ENST00000402943:exon9:c.682-1G>A;ENST00000535474:exon8:c.601-1G>A;ENST00000415427:exon11:c.1165-1G>A;ENST00000588179:exon10:c.972-1G>A;ENST00000436407:exon9:c.1165-1G>A;ENST00000586142:exon8:c.997-1G>A;ENST00000589700:exon7:c.849-1G>A;ENST00000591541:exon3:c.109-1G>A)	.	.	0.999986675681007	0.932
18	43329742	G	C	18	45749777	y	y	splicing	SLC14A1(NM_001146036:exon11:c.997-1G>C;NM_015865:exon10:c.997-1G>C;NM_001128588:exon11:c.1165-1G>C;NM_001146037:exon9:c.1165-1G>C)	.	.	splicing	ENSG00000141469(ENST00000321925:exon10:c.997-1G>C;ENST00000502059:exon9:c.673-1G>C;ENST00000402943:exon9:c.682-1G>C;ENST00000535474:exon8:c.601-1G>C;ENST00000415427:exon11:c.1165-1G>C;ENST00000588179:exon10:c.972-1G>C;ENST00000436407:exon9:c.1165-1G>C;ENST00000586142:exon8:c.997-1G>C;ENST00000589700:exon7:c.849-1G>C;ENST00000591541:exon3:c.109-1G>C)	.	.	0.999976137096505	0.934
18	43329742	G	T	18	45749777	y	y	splicing	SLC14A1(NM_001146036:exon11:c.997-1G>T;NM_015865:exon10:c.997-1G>T;NM_001128588:exon11:c.1165-1G>T;NM_001146037:exon9:c.1165-1G>T)	.	.	splicing	ENSG00000141469(ENST00000321925:exon10:c.997-1G>T;ENST00000502059:exon9:c.673-1G>T;ENST00000402943:exon9:c.682-1G>T;ENST00000535474:exon8:c.601-1G>T;ENST00000415427:exon11:c.1165-1G>T;ENST00000588179:exon10:c.972-1G>T;ENST00000436407:exon9:c.1165-1G>T;ENST00000586142:exon8:c.997-1G>T;ENST00000589700:exon7:c.849-1G>T;ENST00000591541:exon3:c.109-1G>T)	.	.	0.999976137096505	0.932
18	43329743	G	A	18	45749778	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon9:c.G1165A:p.V389I;SLC14A1:NM_001128588:exon11:c.G1165A:p.V389I;SLC14A1:NM_001146036:exon11:c.G997A:p.V333I;SLC14A1:NM_015865:exon10:c.G997A:p.V333I;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon10:c.G997A:p.V333I;ENSG00000141469:ENST00000502059:exon9:c.G673A:p.V225I;ENSG00000141469:ENST00000535474:exon8:c.G601A:p.V201I;ENSG00000141469:ENST00000591541:exon3:c.G109A:p.V37I;ENSG00000141469:ENST00000586142:exon8:c.G997A:p.V333I;ENSG00000141469:ENST00000402943:exon9:c.G682A:p.V228I;ENSG00000141469:ENST00000436407:exon9:c.G1165A:p.V389I;ENSG00000141469:ENST00000415427:exon11:c.G1165A:p.V389I;	3.40270796929574E-4	0.088
18	43329743	G	C	18	45749778	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon9:c.G1165C:p.V389L;SLC14A1:NM_001128588:exon11:c.G1165C:p.V389L;SLC14A1:NM_001146036:exon11:c.G997C:p.V333L;SLC14A1:NM_015865:exon10:c.G997C:p.V333L;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon10:c.G997C:p.V333L;ENSG00000141469:ENST00000502059:exon9:c.G673C:p.V225L;ENSG00000141469:ENST00000535474:exon8:c.G601C:p.V201L;ENSG00000141469:ENST00000591541:exon3:c.G109C:p.V37L;ENSG00000141469:ENST00000586142:exon8:c.G997C:p.V333L;ENSG00000141469:ENST00000589700:exon7:c.G849C:p.R283S;ENSG00000141469:ENST00000402943:exon9:c.G682C:p.V228L;ENSG00000141469:ENST00000436407:exon9:c.G1165C:p.V389L;ENSG00000141469:ENST00000415427:exon11:c.G1165C:p.V389L;	0.0146254749214221	0.254
18	43329743	G	T	18	45749778	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon9:c.G1165T:p.V389F;SLC14A1:NM_001128588:exon11:c.G1165T:p.V389F;SLC14A1:NM_001146036:exon11:c.G997T:p.V333F;SLC14A1:NM_015865:exon10:c.G997T:p.V333F;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon10:c.G997T:p.V333F;ENSG00000141469:ENST00000502059:exon9:c.G673T:p.V225F;ENSG00000141469:ENST00000535474:exon8:c.G601T:p.V201F;ENSG00000141469:ENST00000591541:exon3:c.G109T:p.V37F;ENSG00000141469:ENST00000586142:exon8:c.G997T:p.V333F;ENSG00000141469:ENST00000589700:exon7:c.G849T:p.R283S;ENSG00000141469:ENST00000402943:exon9:c.G682T:p.V228F;ENSG00000141469:ENST00000436407:exon9:c.G1165T:p.V389F;ENSG00000141469:ENST00000415427:exon11:c.G1165T:p.V389F;	0.0269654841551869	0.3
18	43329744	T	A	18	45749779	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon9:c.T1166A:p.V389D;SLC14A1:NM_001128588:exon11:c.T1166A:p.V389D;SLC14A1:NM_001146036:exon11:c.T998A:p.V333D;SLC14A1:NM_015865:exon10:c.T998A:p.V333D;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon10:c.T998A:p.V333D;ENSG00000141469:ENST00000502059:exon9:c.T674A:p.V225D;ENSG00000141469:ENST00000535474:exon8:c.T602A:p.V201D;ENSG00000141469:ENST00000591541:exon3:c.T110A:p.V37D;ENSG00000141469:ENST00000586142:exon8:c.T998A:p.V333D;ENSG00000141469:ENST00000589700:exon7:c.T850A:p.L284M;ENSG00000141469:ENST00000402943:exon9:c.T683A:p.V228D;ENSG00000141469:ENST00000436407:exon9:c.T1166A:p.V389D;ENSG00000141469:ENST00000415427:exon11:c.T1166A:p.V389D;	1.55099688503435E-5	0.052
18	43329744	T	C	18	45749779	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon9:c.T1166C:p.V389A;SLC14A1:NM_001128588:exon11:c.T1166C:p.V389A;SLC14A1:NM_001146036:exon11:c.T998C:p.V333A;SLC14A1:NM_015865:exon10:c.T998C:p.V333A;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon10:c.T998C:p.V333A;ENSG00000141469:ENST00000502059:exon9:c.T674C:p.V225A;ENSG00000141469:ENST00000535474:exon8:c.T602C:p.V201A;ENSG00000141469:ENST00000591541:exon3:c.T110C:p.V37A;ENSG00000141469:ENST00000586142:exon8:c.T998C:p.V333A;ENSG00000141469:ENST00000402943:exon9:c.T683C:p.V228A;ENSG00000141469:ENST00000436407:exon9:c.T1166C:p.V389A;ENSG00000141469:ENST00000415427:exon11:c.T1166C:p.V389A;	1.71684469819506E-4	0.024
18	43329744	T	G	18	45749779	y	y	exonic	SLC14A1	nonsynonymous SNV	SLC14A1:NM_001146037:exon9:c.T1166G:p.V389G;SLC14A1:NM_001128588:exon11:c.T1166G:p.V389G;SLC14A1:NM_001146036:exon11:c.T998G:p.V333G;SLC14A1:NM_015865:exon10:c.T998G:p.V333G;	exonic	ENSG00000141469	nonsynonymous SNV	ENSG00000141469:ENST00000321925:exon10:c.T998G:p.V333G;ENSG00000141469:ENST00000502059:exon9:c.T674G:p.V225G;ENSG00000141469:ENST00000535474:exon8:c.T602G:p.V201G;ENSG00000141469:ENST00000591541:exon3:c.T110G:p.V37G;ENSG00000141469:ENST00000586142:exon8:c.T998G:p.V333G;ENSG00000141469:ENST00000589700:exon7:c.T850G:p.L284V;ENSG00000141469:ENST00000402943:exon9:c.T683G:p.V228G;ENSG00000141469:ENST00000436407:exon9:c.T1166G:p.V389G;ENSG00000141469:ENST00000415427:exon11:c.T1166G:p.V389G;	2.85637831881488E-4	0.032
18	43332131	C	A	18	45752166	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.06021162418853E-4	0.004
18	43332131	C	G	18	45752166	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	9.11159464097565E-5	0.004
18	43332131	C	T	18	45752166	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.4916954340738E-4	0.006
18	43332132	T	A	18	45752167	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.7750410314527E-4	0.002
18	43332132	T	C	18	45752167	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.8511678204642E-4	0.0
18	43332132	T	G	18	45752167	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.8511678204642E-4	0.0
18	43332133	T	A	18	45752168	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	8.77536005455013E-4	0.006
18	43332133	T	C	18	45752168	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	4.77798218238944E-4	0.008
18	43332133	T	G	18	45752168	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	4.77798218238944E-4	0.006
18	43332134	T	A	18	45752169	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	9.90792379341904E-5	0.01
18	43332134	T	C	18	45752169	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	8.18429645671592E-5	0.0
18	43332134	T	G	18	45752169	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	8.18429645671592E-5	0.0
18	43332135	C	A	18	45752170	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	2.93338122508907E-4	0.052
18	43332135	C	G	18	45752170	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	2.28931909661929E-4	0.052
18	43332135	C	T	18	45752170	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	4.12689098276539E-4	0.046
18	43332136	T	A	18	45752171	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	2.65557858300503E-4	0.0
18	43332136	T	C	18	45752171	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.44549828553928E-4	0.008
18	43332136	T	G	18	45752171	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.44549828553928E-4	0.002
18	43332137	T	A	18	45752172	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.7905403730535E-4	0.014
18	43332137	T	C	18	45752172	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.82127296638167E-4	0.008
18	43332137	T	G	18	45752172	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.82127296638167E-4	0.032
18	43332138	G	A	18	45752173	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	8.73902940495253E-5	0.002
18	43332138	G	C	18	45752173	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	5.33785764589345E-5	0.0
18	43332138	G	T	18	45752173	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	5.33785764589345E-5	0.0
18	43332139	T	A	18	45752174	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.28296247757576E-4	0.014
18	43332139	T	C	18	45752174	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.8311460600464E-4	0.038
18	43332139	T	G	18	45752174	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.8311460600464E-4	0.016
18	43332140	T	A	18	45752175	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.00390497128202E-4	0.0
18	43332140	T	C	18	45752175	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.40008694359421E-4	0.006
18	43332140	T	G	18	45752175	n	y	UTR3	SLC14A1	.	.	UTR3	ENSG00000141469	.	.	1.40008694359421E-4	0.008
18	43332141	A	C	18	45752176	n	y	UTR3	SLC14A1	.	.	splicing	ENSG00000141469(ENST00000590377:exon5:c.437-2A>C)	.	.	8.20576206096585E-5	0.002
18	43332141	A	G	18	45752176	n	y	UTR3	SLC14A1	.	.	splicing	ENSG00000141469(ENST00000590377:exon5:c.437-2A>G)	.	.	8.20576206096585E-5	0.016
18	43332141	A	T	18	45752176	n	y	UTR3	SLC14A1	.	.	splicing	ENSG00000141469(ENST00000590377:exon5:c.437-2A>T)	.	.	8.29446782330888E-5	0.008
18	43332142	G	A	18	45752177	n	y	UTR3	SLC14A1	.	.	splicing	ENSG00000141469(ENST00000590377:exon5:c.437-1G>A)	.	.	1.02728736892418E-4	0.002
18	43332142	G	C	18	45752177	n	y	UTR3	SLC14A1	.	.	splicing	ENSG00000141469(ENST00000590377:exon5:c.437-1G>C)	.	.	6.27477746119029E-5	0.0
18	43332142	G	T	18	45752177	n	y	UTR3	SLC14A1	.	.	splicing	ENSG00000141469(ENST00000590377:exon5:c.437-1G>T)	.	.	6.27477746119029E-5	0.0
18	43332143	G	A	18	45752178	n	y	UTR3	SLC14A1	.	.	exonic	ENSG00000141469	unknown	UNKNOWN	0.00241808284960459	0.03
18	43332143	G	C	18	45752178	n	y	UTR3	SLC14A1	.	.	exonic	ENSG00000141469	unknown	UNKNOWN	0.00244344124916092	0.03
18	43332143	G	T	18	45752178	n	y	UTR3	SLC14A1	.	.	exonic	ENSG00000141469	unknown	UNKNOWN	0.00244344124916092	0.03
18	43332144	G	A	18	45752179	n	y	UTR3	SLC14A1	.	.	exonic	ENSG00000141469	unknown	UNKNOWN	1.62039556669911E-4	0.028
18	43332144	G	C	18	45752179	n	y	UTR3	SLC14A1	.	.	exonic	ENSG00000141469	unknown	UNKNOWN	1.16772592104472E-4	0.016
18	43332144	G	T	18	45752179	n	y	UTR3	SLC14A1	.	.	exonic	ENSG00000141469	unknown	UNKNOWN	1.16772592104472E-4	0.014
18	43405743	C	A	18	45825778	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon1:c.C50A:p.T17K;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.C50A:p.T17K;	8.00218182512665E-5	0.028
18	43405743	C	G	18	45825778	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon1:c.C50G:p.T17R;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.C50G:p.T17R;	6.2478305913131E-5	0.002
18	43405743	C	T	18	45825778	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon1:c.C50T:p.T17I;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.C50T:p.T17I;	3.13005964249332E-4	0.072
18	43405744	A	C	18	45825779	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon1:c.A51C:p.T17T;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.A51C:p.T17T;	0.0116312556207276	0.33
18	43405744	A	G	18	45825779	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon1:c.A51G:p.T17T;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.A51G:p.T17T;	0.02456157965693	0.262
18	43405744	A	T	18	45825779	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon1:c.A51T:p.T17T;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.A51T:p.T17T;	0.0359477148919293	0.41
18	43405745	G	A	18	45825780	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon1:c.G52A:p.G18S;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.G52A:p.G18S;	0.996687081527525	0.902
18	43405745	G	C	18	45825780	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon1:c.G52C:p.G18R;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.G52C:p.G18R;	0.999582253525341	0.916
18	43405745	G	T	18	45825780	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon1:c.G52T:p.G18C;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon1:c.G52T:p.G18C;	0.99722079301533	0.896
18	43405746	G	A	18	45825781	y	y	splicing	SIGLEC15(NM_213602:exon1:c.52+1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon1:c.52+1G>A)	.	.	0.999972871252391	0.854
18	43405746	G	C	18	45825781	y	y	splicing	SIGLEC15(NM_213602:exon1:c.52+1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon1:c.52+1G>C)	.	.	0.999969255906173	0.86
18	43405746	G	T	18	45825781	y	y	splicing	SIGLEC15(NM_213602:exon1:c.52+1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon1:c.52+1G>T)	.	.	0.999972155025474	0.868
18	43405747	T	A	18	45825782	y	y	splicing	SIGLEC15(NM_213602:exon1:c.52+2T>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon1:c.52+2T>A)	.	.	0.999990611969007	0.894
18	43405747	T	C	18	45825782	y	y	splicing	SIGLEC15(NM_213602:exon1:c.52+2T>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon1:c.52+2T>C)	.	.	0.999895844694215	0.816
18	43405747	T	G	18	45825782	y	y	splicing	SIGLEC15(NM_213602:exon1:c.52+2T>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon1:c.52+2T>G)	.	.	0.999985353572514	0.856
18	43405748	G	A	18	45825783	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	9.62345665146291E-6	0.0
18	43405748	G	C	18	45825783	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00144038708989506	0.114
18	43405748	G	T	18	45825783	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00145812890292293	0.15
18	43405749	A	C	18	45825784	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.835127726996218	0.49
18	43405749	A	G	18	45825784	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.931427325078718	0.48
18	43405749	A	T	18	45825784	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.933076952071102	0.622
18	43405750	G	A	18	45825785	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.986636679016533	0.858
18	43405750	G	C	18	45825785	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.990055597706389	0.85
18	43405750	G	T	18	45825785	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.995679914837702	0.876
18	43405751	T	A	18	45825786	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.469206856582583	0.358
18	43405751	T	C	18	45825786	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.342837959923178	0.288
18	43405751	T	G	18	45825786	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0218239575141165	0.18
18	43405752	G	A	18	45825787	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.01944998701646E-5	0.0
18	43405752	G	C	18	45825787	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.01944998701646E-5	0.0
18	43405752	G	T	18	45825787	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.35324685739976E-5	0.0
18	43405753	T	A	18	45825788	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00435466241603455	0.022
18	43405753	T	C	18	45825788	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00704017716335769	0.024
18	43405753	T	G	18	45825788	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00294682849973155	0.044
18	43409146	C	A	18	45829181	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	1.06221153758852E-4	0.018
18	43409146	C	G	18	45829181	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	1.06221153758852E-4	0.02
18	43409146	C	T	18	45829181	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	1.06221153758852E-4	0.018
18	43409147	A	C	18	45829182	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	4.24975915077222E-5	0.0
18	43409147	A	G	18	45829182	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	4.24975915077222E-5	0.0
18	43409147	A	T	18	45829182	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	4.24975915077222E-5	0.0
18	43409148	G	A	18	45829183	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	5.52086759380612E-5	0.042
18	43409148	G	C	18	45829183	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	7.38258961194127E-5	0.044
18	43409148	G	T	18	45829183	n	y	intronic	SIGLEC15	.	.	UTR5	ENSG00000197046	.	.	7.38258961194127E-5	0.166
18	43409149	G	A	18	45829184	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046	.	.	9.36163572277957E-5	0.014
18	43409149	G	C	18	45829184	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046	.	.	9.36163572277957E-5	0.014
18	43409149	G	T	18	45829184	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046	.	.	9.36163572277957E-5	0.014
18	43409150	T	A	18	45829185	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046	.	.	4.3686917030135E-5	0.0
18	43409150	T	C	18	45829185	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046	.	.	2.40359436175598E-5	0.0
18	43409150	T	G	18	45829185	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046	.	.	2.40359436175598E-5	0.0
18	43409151	A	C	18	45829186	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	9.06619588578661E-5	0.008
18	43409151	A	G	18	45829186	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	9.06619588578661E-5	0.008
18	43409151	A	T	18	45829186	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	6.77993525610891E-5	0.002
18	43409152	A	C	18	45829187	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.38731564659595E-5	0.002
18	43409152	A	G	18	45829187	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.38731564659595E-5	0.002
18	43409152	A	T	18	45829187	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.38731564659595E-5	0.004
18	43409153	G	A	18	45829188	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.00675832680685E-4	0.002
18	43409153	G	C	18	45829188	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.00675832680685E-4	0.002
18	43409153	G	T	18	45829188	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.00675832680685E-4	0.0
18	43409154	C	A	18	45829189	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.82683257725706E-5	0.006
18	43409154	C	G	18	45829189	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.80332477406426E-5	0.004
18	43409154	C	T	18	45829189	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.82683257725706E-5	0.006
18	43409155	A	C	18	45829190	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.7586829694842E-5	0.0
18	43409155	A	G	18	45829190	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.7586829694842E-5	0.0
18	43409155	A	T	18	45829190	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.7586829694842E-5	0.0
18	43409156	G	A	18	45829191	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.80650664972837E-4	0.032
18	43409156	G	C	18	45829191	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.41558647023099E-4	0.044
18	43409156	G	T	18	45829191	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.41558647023099E-4	0.076
18	43416982	G	A	18	45837017	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.76476902382613E-5	0.03
18	43416982	G	C	18	45837017	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.24835601689986E-5	0.014
18	43416982	G	T	18	45837017	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.19825295554206E-5	0.028
18	43416983	T	A	18	45837018	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0597622894538098	0.294
18	43416983	T	C	18	45837018	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.21899229799251E-4	0.016
18	43416983	T	G	18	45837018	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0257886574362458	0.348
18	43416984	T	A	18	45837019	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.522557875901036	0.456
18	43416984	T	C	18	45837019	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00280883892653438	0.086
18	43416984	T	G	18	45837019	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.717051175887334	0.506
18	43416985	T	A	18	45837020	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.354259668465064	0.46
18	43416985	T	C	18	45837020	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00494140522872199	0.09
18	43416985	T	G	18	45837020	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.375166587549636	0.44
18	43416986	A	C	18	45837021	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.67944982512943E-5	0.0
18	43416986	A	G	18	45837021	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.42376614359201E-5	0.0
18	43416986	A	T	18	45837021	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.58645906776164E-5	0.0
18	43416987	T	A	18	45837022	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00214961650055989	0.044
18	43416987	T	C	18	45837022	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.38981799036637E-5	0.056
18	43416987	T	G	18	45837022	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.993543059594735	0.946
18	43416988	C	A	18	45837023	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.31771585805943E-4	0.216
18	43416988	C	G	18	45837023	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.31771585805943E-4	0.244
18	43416988	C	T	18	45837023	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.59235248083175E-5	0.006
18	43416989	T	A	18	45837024	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.997558002760672	0.832
18	43416989	T	C	18	45837024	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.35519272657034E-4	0.076
18	43416989	T	G	18	45837024	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.557871985459097	0.382
18	43416990	G	A	18	45837025	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.90292919606961E-5	0.04
18	43416990	G	C	18	45837025	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.64486174932077E-5	0.018
18	43416990	G	T	18	45837025	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.39055527388402E-5	0.04
18	43416991	T	A	18	45837026	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00666419694412952	0.284
18	43416991	T	C	18	45837026	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	6.6148495763035E-5	0.042
18	43416991	T	G	18	45837026	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.97783823252597	0.72
18	43416992	A	C	18	45837027	y	y	splicing	SIGLEC15(NM_213602:exon2:c.53-2A>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.53-2A>C)	.	.	0.999994413342239	0.764
18	43416992	A	G	18	45837027	y	y	splicing	SIGLEC15(NM_213602:exon2:c.53-2A>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.53-2A>G)	.	.	0.999994413342239	0.764
18	43416992	A	T	18	45837027	y	y	splicing	SIGLEC15(NM_213602:exon2:c.53-2A>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.53-2A>T)	.	.	0.999989614548265	0.756
18	43416993	G	A	18	45837028	y	y	splicing	SIGLEC15(NM_213602:exon2:c.53-1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.53-1G>A)	.	.	0.999980255680118	0.75
18	43416993	G	C	18	45837028	y	y	splicing	SIGLEC15(NM_213602:exon2:c.53-1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.53-1G>C)	.	.	0.999984399620937	0.764
18	43416993	G	T	18	45837028	y	y	splicing	SIGLEC15(NM_213602:exon2:c.53-1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.53-1G>T)	.	.	0.999984399620937	0.758
18	43416994	G	A	18	45837029	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.G53A:p.G18D;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.G53A:p.G18D;	0.986608477464201	0.708
18	43416994	G	C	18	45837029	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.G53C:p.G18A;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.G53C:p.G18A;	0.915464160582937	0.868
18	43416994	G	T	18	45837029	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.G53T:p.G18V;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.G53T:p.G18V;	0.956327939352026	0.924
18	43416995	C	A	18	45837030	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon2:c.C54A:p.G18G;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.C54A:p.G18G;	1.958334211249E-4	0.002
18	43416995	C	G	18	45837030	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon2:c.C54G:p.G18G;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.C54G:p.G18G;	5.42751964147624E-5	0.002
18	43416995	C	T	18	45837030	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon2:c.C54T:p.G18G;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.C54T:p.G18G;	1.46878921251595E-5	0.0
18	43417051	A	C	18	45837086	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.A110C:p.H37P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.A110C:p.H37P;	3.50244617972615E-5	0.0
18	43417051	A	G	18	45837086	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.A110G:p.H37R;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.A110G:p.H37R;	1.12447212445224E-4	0.002
18	43417051	A	T	18	45837086	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.A110T:p.H37L;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.A110T:p.H37L;	2.8096711179377E-4	0.078
18	43417052	C	A	18	45837087	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.C111A:p.H37Q;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.C111A:p.H37Q;	6.42626964214438E-4	0.128
18	43417052	C	G	18	45837087	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.C111G:p.H37Q;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.C111G:p.H37Q;	6.44760999543229E-4	0.03
18	43417052	C	T	18	45837087	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon2:c.C111T:p.H37H;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.C111T:p.H37H;	0.00242832923209706	0.034
18	43417053	A	C	18	45837088	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.A112C:p.S38R;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.A112C:p.S38R;	0.00937893525751973	0.124
18	43417053	A	G	18	45837088	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.A112G:p.S38G;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.A112G:p.S38G;	0.00235495602494699	0.108
18	43417053	A	T	18	45837088	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon2:c.A112T:p.S38C;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon2:c.A112T:p.S38C;	0.0986864867188037	0.362
18	43417054	G	A	18	45837089	y	y	splicing	SIGLEC15(NM_213602:exon2:c.112+1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.112+1G>A)	.	.	0.999978952611685	0.926
18	43417054	G	C	18	45837089	y	y	splicing	SIGLEC15(NM_213602:exon2:c.112+1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.112+1G>C)	.	.	0.99994568797423	0.928
18	43417054	G	T	18	45837089	y	y	splicing	SIGLEC15(NM_213602:exon2:c.112+1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.112+1G>T)	.	.	0.99994568797423	0.926
18	43417055	T	A	18	45837090	y	y	splicing	SIGLEC15(NM_213602:exon2:c.112+2T>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.112+2T>A)	.	.	0.999991781128047	0.928
18	43417055	T	C	18	45837090	y	y	splicing	SIGLEC15(NM_213602:exon2:c.112+2T>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.112+2T>C)	.	.	0.996548565994436	0.602
18	43417055	T	G	18	45837090	y	y	splicing	SIGLEC15(NM_213602:exon2:c.112+2T>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon2:c.112+2T>G)	.	.	0.999991781128047	0.926
18	43417056	A	C	18	45837091	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999621069154386	0.886
18	43417056	A	G	18	45837091	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00415191188889284	0.132
18	43417056	A	T	18	45837091	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999556661386136	0.892
18	43417057	A	C	18	45837092	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.988762626894449	0.652
18	43417057	A	G	18	45837092	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.996208387079241	0.83
18	43417057	A	T	18	45837092	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.997448119405655	0.764
18	43417058	G	A	18	45837093	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999987657960321	0.992
18	43417058	G	C	18	45837093	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.99998107798581	0.994
18	43417058	G	T	18	45837093	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.99998452838899	0.996
18	43417059	T	A	18	45837094	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.747555125837751	0.528
18	43417059	T	C	18	45837094	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.65558254277426	0.54
18	43417059	T	G	18	45837094	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.927405831429623	0.664
18	43417060	G	A	18	45837095	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00128840885406233	0.004
18	43417060	G	C	18	45837095	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.33348431149156E-4	0.002
18	43417060	G	T	18	45837095	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	6.76859584735311E-4	0.008
18	43417061	C	A	18	45837096	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	6.77949315676496E-5	0.002
18	43417061	C	G	18	45837096	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	9.05738065049697E-5	0.002
18	43417061	C	T	18	45837096	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.41769621509947E-5	0.004
18	43417466	C	A	18	45837501	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0084184969165671	0.068
18	43417466	C	G	18	45837501	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00331274487314302	0.09
18	43417466	C	T	18	45837501	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.41047660919824E-4	0.0
18	43417467	C	A	18	45837502	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0196784534979993	0.138
18	43417467	C	G	18	45837502	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00161996662694327	0.07
18	43417467	C	T	18	45837502	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.43739418847808E-4	0.006
18	43417468	C	A	18	45837503	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00695567821842726	0.11
18	43417468	C	G	18	45837503	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0021718943962768	0.038
18	43417468	C	T	18	45837503	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.62595673916346E-5	0.0
18	43417469	C	A	18	45837504	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999920775669056	0.944
18	43417469	C	G	18	45837504	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.76545600959665E-4	0.09
18	43417469	C	T	18	45837504	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.50916429120951E-5	0.0
18	43417470	G	A	18	45837505	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.29159941984217E-4	0.096
18	43417470	G	C	18	45837505	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.15731863909645E-5	0.01
18	43417470	G	T	18	45837505	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.17157302683727E-5	0.0
18	43417471	C	A	18	45837506	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.234669050262274	0.248
18	43417471	C	G	18	45837506	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.196032094850473	0.232
18	43417471	C	T	18	45837506	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.94962173593029E-4	0.034
18	43417472	C	A	18	45837507	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00584376412945695	0.28
18	43417472	C	G	18	45837507	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00411310513177256	0.268
18	43417472	C	T	18	45837507	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.55084746905678E-5	0.036
18	43417473	C	A	18	45837508	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0319391627579868	0.292
18	43417473	C	G	18	45837508	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0663109930907852	0.316
18	43417473	C	T	18	45837508	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.23607748085897E-4	0.016
18	43417474	T	A	18	45837509	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.01399727693438E-5	0.0
18	43417474	T	C	18	45837509	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.22892585186527E-6	0.0
18	43417474	T	G	18	45837509	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.34898355205865E-5	0.0
18	43417475	C	A	18	45837510	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.965430528965623	0.754
18	43417475	C	G	18	45837510	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999895427940735	0.914
18	43417475	C	T	18	45837510	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00581184575285846	0.368
18	43417476	A	C	18	45837511	y	y	splicing	SIGLEC15(NM_213602:exon3:c.113-2A>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon3:c.113-2A>C)	.	.	0.99998175524478	0.864
18	43417476	A	G	18	45837511	y	y	splicing	SIGLEC15(NM_213602:exon3:c.113-2A>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon3:c.113-2A>G)	.	.	0.99998175524478	0.864
18	43417476	A	T	18	45837511	y	y	splicing	SIGLEC15(NM_213602:exon3:c.113-2A>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon3:c.113-2A>T)	.	.	0.99998175524478	0.884
18	43417477	G	A	18	45837512	y	y	splicing	SIGLEC15(NM_213602:exon3:c.113-1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon3:c.113-1G>A)	.	.	0.999960395825381	0.956
18	43417477	G	C	18	45837512	y	y	splicing	SIGLEC15(NM_213602:exon3:c.113-1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon3:c.113-1G>C)	.	.	0.999945797535514	0.916
18	43417477	G	T	18	45837512	y	y	splicing	SIGLEC15(NM_213602:exon3:c.113-1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon3:c.113-1G>T)	.	.	0.999959014379261	0.938
18	43417478	G	A	18	45837513	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G113A:p.S38N;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon3:c.G113A:p.S38N;	0.0213850858653315	0.232
18	43417478	G	C	18	45837513	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G113C:p.S38T;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon3:c.G113C:p.S38T;	0.415079031525533	0.512
18	43417478	G	T	18	45837513	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G113T:p.S38I;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon3:c.G113T:p.S38I;	0.614312175634657	0.62
18	43417479	C	A	18	45837514	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.C114A:p.S38R;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon3:c.C114A:p.S38R;	5.91570949802418E-5	0.01
18	43417479	C	G	18	45837514	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.C114G:p.S38R;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000389474:exon3:c.C114G:p.S38R;	1.00219731087759E-4	0.002
18	43417479	C	T	18	45837514	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon3:c.C114T:p.S38S;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000389474:exon3:c.C114T:p.S38S;	5.30031896342098E-5	0.014
18	43418671	T	A	18	45838706	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0311542777586327	0.144
18	43418671	T	C	18	45838706	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.14462495679856E-4	0.004
18	43418671	T	G	18	45838706	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0106748609755992	0.12
18	43418672	C	A	18	45838707	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0011993840224432	0.082
18	43418672	C	G	18	45838707	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	8.41731672679658E-4	0.154
18	43418672	C	T	18	45838707	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.10531185661746E-5	0.004
18	43418673	T	A	18	45838708	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00497239023242731	0.104
18	43418673	T	C	18	45838708	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.23791816405715E-4	0.016
18	43418673	T	G	18	45838708	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00303211918023887	0.09
18	43418674	C	A	18	45838709	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.66629578319454E-4	0.048
18	43418674	C	G	18	45838709	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	6.69820061275531E-5	0.034
18	43418674	C	T	18	45838709	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.55908716824608E-5	0.0
18	43418675	C	A	18	45838710	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	8.50342486592838E-4	0.052
18	43418675	C	G	18	45838710	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.65231516191863E-4	0.07
18	43418675	C	T	18	45838710	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	9.57183063089832E-6	0.0
18	43418676	C	A	18	45838711	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00290712930315399	0.158
18	43418676	C	G	18	45838711	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00268837637540207	0.168
18	43418676	C	T	18	45838711	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.7057651261994E-5	0.05
18	43418677	C	A	18	45838712	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.19388408025416E-4	0.09
18	43418677	C	G	18	45838712	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.07350322967707E-4	0.102
18	43418677	C	T	18	45838712	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.07993738212316E-5	0.014
18	43418678	T	A	18	45838713	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.942082665392895	0.836
18	43418678	T	C	18	45838713	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.45861734468457E-5	0.004
18	43418678	T	G	18	45838713	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.7038834275065E-4	0.096
18	43418679	G	A	18	45838714	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.20425558596378E-5	0.0
18	43418679	G	C	18	45838714	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.37072875663778E-6	0.002
18	43418679	G	T	18	45838714	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.25538087428663E-5	0.028
18	43418680	C	A	18	45838715	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.968943272051762	0.75
18	43418680	C	G	18	45838715	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999856130817513	0.938
18	43418680	C	T	18	45838715	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0030070481767712	0.184
18	43418681	A	C	18	45838716	y	y	splicing	SIGLEC15(NM_213602:exon4:c.497-2A>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.497-2A>C;ENST00000546268:exon4:c.35-2A>C)	.	.	0.999985730311967	0.872
18	43418681	A	G	18	45838716	y	y	splicing	SIGLEC15(NM_213602:exon4:c.497-2A>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.497-2A>G;ENST00000546268:exon4:c.35-2A>G)	.	.	0.999985730311967	0.864
18	43418681	A	T	18	45838716	y	y	splicing	SIGLEC15(NM_213602:exon4:c.497-2A>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.497-2A>T;ENST00000546268:exon4:c.35-2A>T)	.	.	0.999990611969007	0.894
18	43418682	G	A	18	45838717	y	y	splicing	SIGLEC15(NM_213602:exon4:c.497-1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.497-1G>A;ENST00000546268:exon4:c.35-1G>A)	.	.	0.999971317418422	0.902
18	43418682	G	C	18	45838717	y	y	splicing	SIGLEC15(NM_213602:exon4:c.497-1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.497-1G>C;ENST00000546268:exon4:c.35-1G>C)	.	.	0.999971317418422	0.894
18	43418682	G	T	18	45838717	y	y	splicing	SIGLEC15(NM_213602:exon4:c.497-1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.497-1G>T;ENST00000546268:exon4:c.35-1G>T)	.	.	0.999971317418422	0.9
18	43418683	C	A	18	45838718	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.C497A:p.A166D;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.C35A:p.S12Y;ENSG00000197046:ENST00000389474:exon4:c.C497A:p.A166D;	0.00571804592954281	0.036
18	43418683	C	G	18	45838718	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.C497G:p.A166G;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.C35G:p.S12C;ENSG00000197046:ENST00000389474:exon4:c.C497G:p.A166G;	0.0378891379056583	0.184
18	43418683	C	T	18	45838718	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.C497T:p.A166V;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.C35T:p.S12F;ENSG00000197046:ENST00000389474:exon4:c.C497T:p.A166V;	0.541036053560942	0.476
18	43418684	C	A	18	45838719	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon4:c.C498A:p.A166A;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.C36A:p.S12S;ENSG00000197046:ENST00000389474:exon4:c.C498A:p.A166A;	4.28518414628244E-5	0.0
18	43418684	C	G	18	45838719	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon4:c.C498G:p.A166A;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.C36G:p.S12S;ENSG00000197046:ENST00000389474:exon4:c.C498G:p.A166A;	9.11599788285826E-6	0.004
18	43418684	C	T	18	45838719	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon4:c.C498T:p.A166A;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.C36T:p.S12S;ENSG00000197046:ENST00000389474:exon4:c.C498T:p.A166A;	9.09740216807318E-6	0.002
18	43419058	C	A	18	45839093	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.C872A:p.P291Q;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.C410A:p.P137Q;ENSG00000197046:ENST00000389474:exon4:c.C872A:p.P291Q;ENSG00000197046:ENST00000587418:exon2:c.C181A:p.Q61K;	1.56473793017268E-5	0.012
18	43419058	C	G	18	45839093	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.C872G:p.P291R;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.C410G:p.P137R;ENSG00000197046:ENST00000389474:exon4:c.C872G:p.P291R;ENSG00000197046:ENST00000587418:exon2:c.C181G:p.Q61E;	4.67221133976129E-5	0.144
18	43419058	C	T	18	45839093	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.C872T:p.P291L;	exonic	ENSG00000197046	stopgain SNV	ENSG00000197046:ENST00000587418:exon2:c.C181T:p.Q61X;	0.0247995750765425	0.364
18	43419059	A	C	18	45839094	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon4:c.A873C:p.P291P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon2:c.A182C:p.Q61P;	0.748469363399357	0.692
18	43419059	A	G	18	45839094	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon4:c.A873G:p.P291P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon2:c.A182G:p.Q61R;	0.972316734187462	0.678
18	43419059	A	T	18	45839094	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon4:c.A873T:p.P291P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon2:c.A182T:p.Q61L;	0.940874506314537	0.7
18	43419060	G	A	18	45839095	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.G874A:p.E292K;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.G412A:p.E138K;ENSG00000197046:ENST00000389474:exon4:c.G874A:p.E292K;	0.99931145390015	0.992
18	43419060	G	C	18	45839095	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon4:c.G874C:p.E292Q;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon4:c.G412C:p.E138Q;ENSG00000197046:ENST00000389474:exon4:c.G874C:p.E292Q;ENSG00000197046:ENST00000587418:exon2:c.G183C:p.Q61H;	0.999987928183681	0.906
18	43419060	G	T	18	45839095	y	y	exonic	SIGLEC15	stopgain SNV	SIGLEC15:NM_213602:exon4:c.G874T:p.E292X;	exonic	ENSG00000197046	stopgain SNV	ENSG00000197046:ENST00000546268:exon4:c.G412T:p.E138X;ENSG00000197046:ENST00000389474:exon4:c.G874T:p.E292X;	0.999989111792091	0.996
18	43419061	G	A	18	45839096	y	y	splicing	SIGLEC15(NM_213602:exon4:c.874+1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.874+1G>A;ENST00000546268:exon4:c.412+1G>A;ENST00000587418:exon2:c.183+1G>A)	.	.	0.998717974299069	0.68
18	43419061	G	C	18	45839096	y	y	splicing	SIGLEC15(NM_213602:exon4:c.874+1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.874+1G>C;ENST00000546268:exon4:c.412+1G>C;ENST00000587418:exon2:c.183+1G>C)	.	.	0.998717974299069	0.668
18	43419061	G	T	18	45839096	y	y	splicing	SIGLEC15(NM_213602:exon4:c.874+1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.874+1G>T;ENST00000546268:exon4:c.412+1G>T;ENST00000587418:exon2:c.183+1G>T)	.	.	0.998717974299069	0.672
18	43419062	T	A	18	45839097	y	y	splicing	SIGLEC15(NM_213602:exon4:c.874+2T>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.874+2T>A;ENST00000546268:exon4:c.412+2T>A;ENST00000587418:exon2:c.183+2T>A)	.	.	0.999988109495442	0.912
18	43419062	T	C	18	45839097	y	y	splicing	SIGLEC15(NM_213602:exon4:c.874+2T>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.874+2T>C;ENST00000546268:exon4:c.412+2T>C;ENST00000587418:exon2:c.183+2T>C)	.	.	0.999933236643277	0.806
18	43419062	T	G	18	45839097	y	y	splicing	SIGLEC15(NM_213602:exon4:c.874+2T>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon4:c.874+2T>G;ENST00000546268:exon4:c.412+2T>G;ENST00000587418:exon2:c.183+2T>G)	.	.	0.999990611969007	0.894
18	43419063	G	A	18	45839098	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.42644086869413E-4	0.064
18	43419063	G	C	18	45839098	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.375052029171993	0.51
18	43419063	G	T	18	45839098	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.507646298541048	0.504
18	43419064	G	A	18	45839099	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.00970571189332E-4	0.134
18	43419064	G	C	18	45839099	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	9.33491177828529E-4	0.102
18	43419064	G	T	18	45839099	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00123493643614406	0.072
18	43419065	G	A	18	45839100	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.997601496784065	0.926
18	43419065	G	C	18	45839100	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999952711546155	0.974
18	43419065	G	T	18	45839100	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.998800141947162	0.8
18	43419066	T	A	18	45839101	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.256997166378825	0.376
18	43419066	T	C	18	45839101	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.133083831023334	0.342
18	43419066	T	G	18	45839101	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.129350865720563	0.322
18	43419067	G	A	18	45839102	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00160346218878403	0.034
18	43419067	G	C	18	45839102	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00271774941230738	0.032
18	43419067	G	T	18	45839102	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00144495980336322	0.056
18	43419068	C	A	18	45839103	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.60311254863589E-4	0.002
18	43419068	C	G	18	45839103	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	8.56919586076809E-4	0.066
18	43419068	C	T	18	45839103	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.26886836036888E-5	0.004
18	43420164	T	A	18	45840199	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	9.10607617643492E-4	0.074
18	43420164	T	C	18	45840199	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.60674391706061E-4	0.048
18	43420164	T	G	18	45840199	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00133147005416504	0.1
18	43420165	C	A	18	45840200	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00491511116005295	0.12
18	43420165	C	G	18	45840200	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00112151614602726	0.028
18	43420165	C	T	18	45840200	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.41680827537807E-5	0.0
18	43420166	C	A	18	45840201	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00128406587277497	0.056
18	43420166	C	G	18	45840201	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00124319032216386	0.05
18	43420166	C	T	18	45840201	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.29203489347423E-5	0.0
18	43420167	C	A	18	45840202	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00439574715515141	0.122
18	43420167	C	G	18	45840202	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	6.42810664118938E-4	0.116
18	43420167	C	T	18	45840202	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.29203489347423E-5	0.0
18	43420168	T	A	18	45840203	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00491673371315856	0.124
18	43420168	T	C	18	45840203	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.5684780255278E-5	0.0
18	43420168	T	G	18	45840203	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00187212753526032	0.168
18	43420169	C	A	18	45840204	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0013174013524709	0.05
18	43420169	C	G	18	45840204	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00147497370088807	0.06
18	43420169	C	T	18	45840204	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.60683649751883E-5	0.0
18	43420170	C	A	18	45840205	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00748313982121053	0.12
18	43420170	C	G	18	45840205	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0097539534917667	0.136
18	43420170	C	T	18	45840205	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.34847162860414E-5	0.0
18	43420171	C	A	18	45840206	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.78870914206495E-4	0.028
18	43420171	C	G	18	45840206	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00517197041406292	0.088
18	43420171	C	T	18	45840206	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.63612769327653E-5	0.004
18	43420172	A	C	18	45840207	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00251547840672552	0.018
18	43420172	A	G	18	45840207	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0100495018818871	0.038
18	43420172	A	T	18	45840207	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00710069475755652	0.094
18	43420173	C	A	18	45840208	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999303412346759	0.88
18	43420173	C	G	18	45840208	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999614178843504	0.958
18	43420173	C	T	18	45840208	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0641054568580947	0.216
18	43420174	A	C	18	45840209	y	y	splicing	SIGLEC15(NM_213602:exon5:c.875-2A>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.875-2A>C;ENST00000546268:exon5:c.413-2A>C;ENST00000587418:exon3:c.184-2A>C)	.	.	0.999966203349492	0.944
18	43420174	A	G	18	45840209	y	y	splicing	SIGLEC15(NM_213602:exon5:c.875-2A>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.875-2A>G;ENST00000546268:exon5:c.413-2A>G;ENST00000587418:exon3:c.184-2A>G)	.	.	0.999966203349492	0.944
18	43420174	A	T	18	45840209	y	y	splicing	SIGLEC15(NM_213602:exon5:c.875-2A>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.875-2A>T;ENST00000546268:exon5:c.413-2A>T;ENST00000587418:exon3:c.184-2A>T)	.	.	0.999966203349492	0.938
18	43420175	G	A	18	45840210	y	y	splicing	SIGLEC15(NM_213602:exon5:c.875-1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.875-1G>A;ENST00000546268:exon5:c.413-1G>A;ENST00000587418:exon3:c.184-1G>A)	.	.	0.999938422912956	0.956
18	43420175	G	C	18	45840210	y	y	splicing	SIGLEC15(NM_213602:exon5:c.875-1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.875-1G>C;ENST00000546268:exon5:c.413-1G>C;ENST00000587418:exon3:c.184-1G>C)	.	.	0.999938990645747	0.956
18	43420175	G	T	18	45840210	y	y	splicing	SIGLEC15(NM_213602:exon5:c.875-1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.875-1G>T;ENST00000546268:exon5:c.413-1G>T;ENST00000587418:exon3:c.184-1G>T)	.	.	0.999938422912956	0.956
18	43420176	A	C	18	45840211	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.A875C:p.E292A;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.A413C:p.E138A;ENSG00000197046:ENST00000389474:exon5:c.A875C:p.E292A;ENSG00000197046:ENST00000587418:exon3:c.A184C:p.S62R;	0.010372032699193	0.202
18	43420176	A	G	18	45840211	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.A875G:p.E292G;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.A413G:p.E138G;ENSG00000197046:ENST00000389474:exon5:c.A875G:p.E292G;ENSG00000197046:ENST00000587418:exon3:c.A184G:p.S62G;	0.00489664967872087	0.064
18	43420176	A	T	18	45840211	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.A875T:p.E292V;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.A413T:p.E138V;ENSG00000197046:ENST00000389474:exon5:c.A875T:p.E292V;ENSG00000197046:ENST00000587418:exon3:c.A184T:p.S62C;	0.0310667719084744	0.318
18	43420177	G	A	18	45840212	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon5:c.G876A:p.E292E;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon3:c.G185A:p.S62N;	3.58033105175486E-5	0.0
18	43420177	G	C	18	45840212	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.G876C:p.E292D;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.G414C:p.E138D;ENSG00000197046:ENST00000389474:exon5:c.G876C:p.E292D;ENSG00000197046:ENST00000587418:exon3:c.G185C:p.S62T;	5.46974353353958E-5	0.006
18	43420177	G	T	18	45840212	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.G876T:p.E292D;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.G414T:p.E138D;ENSG00000197046:ENST00000389474:exon5:c.G876T:p.E292D;ENSG00000197046:ENST00000587418:exon3:c.G185T:p.S62I;	1.44995398062418E-4	0.0
18	43420204	A	C	18	45840239	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon5:c.A903C:p.P301P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon3:c.A212C:p.H71P;	1.7928096795173E-5	0.0
18	43420204	A	G	18	45840239	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon5:c.A903G:p.P301P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon3:c.A212G:p.H71R;	3.88936186566143E-5	0.002
18	43420204	A	T	18	45840239	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon5:c.A903T:p.P301P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon3:c.A212T:p.H71L;	2.33129939704079E-4	0.088
18	43420205	C	A	18	45840240	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon5:c.C904A:p.R302R;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon3:c.C213A:p.H71Q;	2.38551729989517E-5	0.04
18	43420205	C	G	18	45840240	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.C904G:p.R302G;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.C442G:p.R148G;ENSG00000197046:ENST00000389474:exon5:c.C904G:p.R302G;ENSG00000197046:ENST00000587418:exon3:c.C213G:p.H71Q;	1.17036562752195E-4	0.088
18	43420205	C	T	18	45840240	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.C904T:p.R302W;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.C442T:p.R148W;ENSG00000197046:ENST00000389474:exon5:c.C904T:p.R302W;	6.94692777488317E-5	0.154
18	43420206	G	A	18	45840241	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.G905A:p.R302Q;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.G443A:p.R148Q;ENSG00000197046:ENST00000389474:exon5:c.G905A:p.R302Q;ENSG00000197046:ENST00000587418:exon3:c.G214A:p.V72I;	0.999537835107577	0.952
18	43420206	G	C	18	45840241	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.G905C:p.R302P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.G443C:p.R148P;ENSG00000197046:ENST00000389474:exon5:c.G905C:p.R302P;ENSG00000197046:ENST00000587418:exon3:c.G214C:p.V72L;	0.999909347116576	0.968
18	43420206	G	T	18	45840241	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon5:c.G905T:p.R302L;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon5:c.G443T:p.R148L;ENSG00000197046:ENST00000389474:exon5:c.G905T:p.R302L;ENSG00000197046:ENST00000587418:exon3:c.G214T:p.V72F;	0.999764385425548	0.984
18	43420207	G	A	18	45840242	y	y	splicing	SIGLEC15(NM_213602:exon5:c.905+1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.905+1G>A;ENST00000546268:exon5:c.443+1G>A;ENST00000587418:exon3:c.214+1G>A)	.	.	0.999986675681007	0.934
18	43420207	G	C	18	45840242	y	y	splicing	SIGLEC15(NM_213602:exon5:c.905+1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.905+1G>C;ENST00000546268:exon5:c.443+1G>C;ENST00000587418:exon3:c.214+1G>C)	.	.	0.999986675681007	0.934
18	43420207	G	T	18	45840242	y	y	splicing	SIGLEC15(NM_213602:exon5:c.905+1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.905+1G>T;ENST00000546268:exon5:c.443+1G>T;ENST00000587418:exon3:c.214+1G>T)	.	.	0.999986675681007	0.934
18	43420208	T	A	18	45840243	y	y	splicing	SIGLEC15(NM_213602:exon5:c.905+2T>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.905+2T>A;ENST00000546268:exon5:c.443+2T>A;ENST00000587418:exon3:c.214+2T>A)	.	.	0.999989917668626	0.926
18	43420208	T	C	18	45840243	y	y	splicing	SIGLEC15(NM_213602:exon5:c.905+2T>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.905+2T>C;ENST00000546268:exon5:c.443+2T>C;ENST00000587418:exon3:c.214+2T>C)	.	.	0.988042962918841	0.608
18	43420208	T	G	18	45840243	y	y	splicing	SIGLEC15(NM_213602:exon5:c.905+2T>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon5:c.905+2T>G;ENST00000546268:exon5:c.443+2T>G;ENST00000587418:exon3:c.214+2T>G)	.	.	0.999989917668626	0.924
18	43420209	A	C	18	45840244	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.748609131325981	0.562
18	43420209	A	G	18	45840244	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.46042929683435E-4	0.058
18	43420209	A	T	18	45840244	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.449745286799374	0.504
18	43420210	A	C	18	45840245	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.217570454884921	0.302
18	43420210	A	G	18	45840245	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.32718850947551	0.262
18	43420210	A	T	18	45840245	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.361215663818484	0.242
18	43420211	G	A	18	45840246	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.98981560646315	0.87
18	43420211	G	C	18	45840246	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.995633521824132	0.86
18	43420211	G	T	18	45840246	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.992890877717049	0.878
18	43420212	T	A	18	45840247	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0368343507220769	0.238
18	43420212	T	C	18	45840247	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0229875410445381	0.248
18	43420212	T	G	18	45840247	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0186278140306703	0.16
18	43420213	G	A	18	45840248	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	6.59301276777165E-5	0.0
18	43420213	G	C	18	45840248	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.24901942940512E-4	0.018
18	43420213	G	T	18	45840248	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.95770833625375E-4	0.012
18	43420214	A	C	18	45840249	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.49767452327808E-4	0.002
18	43420214	A	G	18	45840249	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.58610291944236E-4	0.002
18	43420214	A	T	18	45840249	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.02065448528263E-4	0.002
18	43420839	A	C	18	45840874	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.80274866394675E-5	0.008
18	43420839	A	G	18	45840874	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.80274866394675E-5	0.008
18	43420839	A	T	18	45840874	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.80274866394675E-5	0.0
18	43420840	T	A	18	45840875	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.70337218186484E-5	0.0
18	43420840	T	C	18	45840875	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.70337218186484E-5	0.0
18	43420840	T	G	18	45840875	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.70337218186484E-5	0.0
18	43420841	C	A	18	45840876	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.7749166663215E-5	0.0
18	43420841	C	G	18	45840876	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.7749166663215E-5	0.0
18	43420841	C	T	18	45840876	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.7749166663215E-5	0.002
18	43420842	T	A	18	45840877	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	8.60578370355274E-6	0.0
18	43420842	T	C	18	45840877	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.97552862615456E-6	0.0
18	43420842	T	G	18	45840877	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.97552862615456E-6	0.0
18	43420843	C	A	18	45840878	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	8.35520562038957E-5	0.0
18	43420843	C	G	18	45840878	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	8.35520562038957E-5	0.0
18	43420843	C	T	18	45840878	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	8.35520562038957E-5	0.0
18	43420844	T	A	18	45840879	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.63360899965148E-5	0.002
18	43420844	T	C	18	45840879	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.63360899965148E-5	0.002
18	43420844	T	G	18	45840879	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.63360899965148E-5	0.002
18	43420845	C	A	18	45840880	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.09469023002838E-4	0.004
18	43420845	C	G	18	45840880	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.34280463342776E-4	0.004
18	43420845	C	T	18	45840880	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.09469023002838E-4	0.004
18	43420846	C	A	18	45840881	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.57076726553018E-5	0.0
18	43420846	C	G	18	45840881	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.57076726553018E-5	0.004
18	43420846	C	T	18	45840881	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.57076726553018E-5	0.0
18	43420847	A	C	18	45840882	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.47039489069415E-5	0.004
18	43420847	A	G	18	45840882	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	4.47039489069415E-5	0.004
18	43420847	A	T	18	45840882	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	6.552751562108E-5	0.004
18	43420848	C	A	18	45840883	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.32510510707312E-5	0.0
18	43420848	C	G	18	45840883	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.1548255067557E-5	0.0
18	43420848	C	T	18	45840883	n	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.32510510707312E-5	0.0
18	43420849	A	C	18	45840884	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046(ENST00000587418:exon4:c.215-2A>C)	.	.	1.70337218186484E-5	0.0
18	43420849	A	G	18	45840884	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046(ENST00000587418:exon4:c.215-2A>G)	.	.	1.70337218186484E-5	0.0
18	43420849	A	T	18	45840884	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046(ENST00000587418:exon4:c.215-2A>T)	.	.	1.70337218186484E-5	0.0
18	43420850	G	A	18	45840885	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046(ENST00000587418:exon4:c.215-1G>A)	.	.	1.00675832680685E-4	0.0
18	43420850	G	C	18	45840885	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046(ENST00000587418:exon4:c.215-1G>C)	.	.	2.32510510707312E-5	0.0
18	43420850	G	T	18	45840885	n	y	intronic	SIGLEC15	.	.	splicing	ENSG00000197046(ENST00000587418:exon4:c.215-1G>T)	.	.	4.84368244779743E-5	0.0
18	43420851	T	A	18	45840886	n	y	intronic	SIGLEC15	.	.	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon4:c.T215A:p.V72D;	2.86080732310785E-5	0.002
18	43420851	T	C	18	45840886	n	y	intronic	SIGLEC15	.	.	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon4:c.T215C:p.V72A;	2.86080732310785E-5	0.002
18	43420851	T	G	18	45840886	n	y	intronic	SIGLEC15	.	.	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000587418:exon4:c.T215G:p.V72G;	2.86080732310785E-5	0.002
18	43420852	C	A	18	45840887	n	y	intronic	SIGLEC15	.	.	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000587418:exon4:c.C216A:p.V72V;	4.09469023002838E-4	0.004
18	43420852	C	G	18	45840887	n	y	intronic	SIGLEC15	.	.	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000587418:exon4:c.C216G:p.V72V;	7.34280463342776E-4	0.004
18	43420852	C	T	18	45840887	n	y	intronic	SIGLEC15	.	.	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000587418:exon4:c.C216T:p.V72V;	4.09469023002838E-4	0.004
18	43422059	T	A	18	45842094	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.180259688381391	0.374
18	43422059	T	C	18	45842094	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00193589632902916	0.098
18	43422059	T	G	18	45842094	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0679369271903729	0.358
18	43422060	C	A	18	45842095	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.126023740510636	0.308
18	43422060	C	G	18	45842095	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0343770121225998	0.286
18	43422060	C	T	18	45842095	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0418682037466509	0.48
18	43422061	C	A	18	45842096	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0238547579839826	0.13
18	43422061	C	G	18	45842096	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00634707244233061	0.042
18	43422061	C	T	18	45842096	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0216389035667017	0.192
18	43422062	T	A	18	45842097	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.99994989834633	0.936
18	43422062	T	C	18	45842097	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	8.91827990255695E-6	0.064
18	43422062	T	G	18	45842097	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.05858505653486E-4	0.186
18	43422063	G	A	18	45842098	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	7.26549422684481E-4	0.052
18	43422063	G	C	18	45842098	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.03686201429184E-4	0.006
18	43422063	G	T	18	45842098	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.28462947281409E-4	0.002
18	43422064	T	A	18	45842099	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00449699327674495	0.142
18	43422064	T	C	18	45842099	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.58664189566811E-4	0.002
18	43422064	T	G	18	45842099	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00582716849496963	0.118
18	43422065	C	A	18	45842100	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.368215413840189	0.432
18	43422065	C	G	18	45842100	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.391582696429165	0.442
18	43422065	C	T	18	45842100	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00166685354603751	0.128
18	43422066	C	A	18	45842101	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	2.45227119669203E-4	0.052
18	43422066	C	G	18	45842101	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.00136511266617461	0.09
18	43422066	C	T	18	45842101	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	3.48234512200198E-5	0.006
18	43422067	A	C	18	45842102	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	5.73664962257371E-5	0.0
18	43422067	A	G	18	45842102	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.04462533277408E-4	0.0
18	43422067	A	T	18	45842102	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	1.62545854263009E-4	0.01
18	43422068	C	A	18	45842103	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.433746435489825	0.716
18	43422068	C	G	18	45842103	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.999877943538339	0.95
18	43422068	C	T	18	45842103	y	y	intronic	SIGLEC15	.	.	intronic	ENSG00000197046	.	.	0.0143669916162339	0.022
18	43422069	A	C	18	45842104	y	y	splicing	SIGLEC15(NM_213602:exon6:c.906-2A>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon6:c.906-2A>C;ENST00000546268:exon6:c.444-2A>C)	.	.	0.999988247793601	0.926
18	43422069	A	G	18	45842104	y	y	splicing	SIGLEC15(NM_213602:exon6:c.906-2A>G)	.	.	splicing	ENSG00000197046(ENST00000389474:exon6:c.906-2A>G;ENST00000546268:exon6:c.444-2A>G)	.	.	0.999988247793601	0.926
18	43422069	A	T	18	45842104	y	y	splicing	SIGLEC15(NM_213602:exon6:c.906-2A>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon6:c.906-2A>T;ENST00000546268:exon6:c.444-2A>T)	.	.	0.999988247793601	0.926
18	43422070	G	A	18	45842105	y	y	splicing	SIGLEC15(NM_213602:exon6:c.906-1G>A)	.	.	splicing	ENSG00000197046(ENST00000389474:exon6:c.906-1G>A;ENST00000546268:exon6:c.444-1G>A)	.	.	0.999986675681007	0.926
18	43422070	G	C	18	45842105	y	y	splicing	SIGLEC15(NM_213602:exon6:c.906-1G>C)	.	.	splicing	ENSG00000197046(ENST00000389474:exon6:c.906-1G>C;ENST00000546268:exon6:c.444-1G>C)	.	.	0.999986675681007	0.926
18	43422070	G	T	18	45842105	y	y	splicing	SIGLEC15(NM_213602:exon6:c.906-1G>T)	.	.	splicing	ENSG00000197046(ENST00000389474:exon6:c.906-1G>T;ENST00000546268:exon6:c.444-1G>T)	.	.	0.999986675681007	0.926
18	43422071	G	A	18	45842106	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon6:c.G906A:p.R302R;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000546268:exon6:c.G444A:p.R148R;ENSG00000197046:ENST00000389474:exon6:c.G906A:p.R302R;	0.748141782130773	0.55
18	43422071	G	C	18	45842106	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon6:c.G906C:p.R302R;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000546268:exon6:c.G444C:p.R148R;ENSG00000197046:ENST00000389474:exon6:c.G906C:p.R302R;	0.947958195708345	0.854
18	43422071	G	T	18	45842106	y	y	exonic	SIGLEC15	synonymous SNV	SIGLEC15:NM_213602:exon6:c.G906T:p.R302R;	exonic	ENSG00000197046	synonymous SNV	ENSG00000197046:ENST00000546268:exon6:c.G444T:p.R148R;ENSG00000197046:ENST00000389474:exon6:c.G906T:p.R302R;	0.973784588686246	0.858
18	43422072	T	A	18	45842107	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon6:c.T907A:p.S303T;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon6:c.T445A:p.S149T;ENSG00000197046:ENST00000389474:exon6:c.T907A:p.S303T;	6.19940518999127E-4	0.008
18	43422072	T	C	18	45842107	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon6:c.T907C:p.S303P;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon6:c.T445C:p.S149P;ENSG00000197046:ENST00000389474:exon6:c.T907C:p.S303P;	6.72597313605261E-5	0.006
18	43422072	T	G	18	45842107	y	y	exonic	SIGLEC15	nonsynonymous SNV	SIGLEC15:NM_213602:exon6:c.T907G:p.S303A;	exonic	ENSG00000197046	nonsynonymous SNV	ENSG00000197046:ENST00000546268:exon6:c.T445G:p.S149A;ENSG00000197046:ENST00000389474:exon6:c.T907G:p.S303A;	0.00124705380567706	0.042
18	43432613	G	A	18	45852648	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon44:c.C7559T:p.A2520V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon44:c.C7559T:p.A2520V;	3.94284909509381E-4	0.006
18	43432613	G	C	18	45852648	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon44:c.C7559G:p.A2520G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon44:c.C7559G:p.A2520G;	1.45860866043031E-4	0.01
18	43432613	G	T	18	45852648	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon44:c.C7559A:p.A2520D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon44:c.C7559A:p.A2520D;	0.00310152152144332	0.09
18	43432614	C	A	18	45852649	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon44:c.G7558T:p.A2520S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon44:c.G7558T:p.A2520S;	0.999546929707757	0.962
18	43432614	C	G	18	45852649	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon44:c.G7558C:p.A2520P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon44:c.G7558C:p.A2520P;	0.999655352695771	0.966
18	43432614	C	T	18	45852649	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon44:c.G7558A:p.A2520T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon44:c.G7558A:p.A2520T;	0.995664671643032	0.764
18	43432615	C	A	18	45852650	y	y	splicing	EPG5(NM_020964:exon45:c.7558-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon45:c.7558-1G>T;ENST00000590854:exon9:c.1335-1G>T)	.	.	0.999969489273001	0.944
18	43432615	C	G	18	45852650	y	y	splicing	EPG5(NM_020964:exon45:c.7558-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon45:c.7558-1G>C;ENST00000590854:exon9:c.1335-1G>C)	.	.	0.999962719125131	0.942
18	43432615	C	T	18	45852650	y	y	splicing	EPG5(NM_020964:exon45:c.7558-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon45:c.7558-1G>A;ENST00000590854:exon9:c.1335-1G>A)	.	.	0.999969489273001	0.936
18	43432616	T	A	18	45852651	y	y	splicing	EPG5(NM_020964:exon45:c.7558-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon45:c.7558-2A>T;ENST00000590854:exon9:c.1335-2A>T)	.	.	0.999945652454398	0.93
18	43432616	T	C	18	45852651	y	y	splicing	EPG5(NM_020964:exon45:c.7558-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon45:c.7558-2A>G;ENST00000590854:exon9:c.1335-2A>G)	.	.	0.999943756768875	0.914
18	43432616	T	G	18	45852651	y	y	splicing	EPG5(NM_020964:exon45:c.7558-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon45:c.7558-2A>C;ENST00000590854:exon9:c.1335-2A>C)	.	.	0.999943756768875	0.916
18	43432617	A	C	18	45852652	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.887933181850308	0.688
18	43432617	A	G	18	45852652	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.87758894661643E-4	0.026
18	43432617	A	T	18	45852652	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00290913311253219	0.17
18	43432618	A	C	18	45852653	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.12800693961077E-5	0.044
18	43432618	A	G	18	45852653	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.95678847578044E-5	0.162
18	43432618	A	T	18	45852653	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.10063723520441E-5	0.09
18	43432619	A	C	18	45852654	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.545998123317343	0.412
18	43432619	A	G	18	45852654	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.01135892385833E-4	0.056
18	43432619	A	T	18	45852654	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.395317503719411	0.408
18	43432620	A	C	18	45852655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.685710284651728	0.434
18	43432620	A	G	18	45852655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.91492376935591E-4	0.034
18	43432620	A	T	18	45852655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.627024390073207	0.428
18	43432621	G	A	18	45852656	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.24856891812235E-5	0.0
18	43432621	G	C	18	45852656	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.41115386548561E-4	0.066
18	43432621	G	T	18	45852656	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.29327295945853E-4	0.04
18	43432622	A	C	18	45852657	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.158367178681189	0.378
18	43432622	A	G	18	45852657	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00121610346552398	0.064
18	43432622	A	T	18	45852657	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.623587872072806	0.446
18	43432623	C	A	18	45852658	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00118581519004861	0.036
18	43432623	C	G	18	45852658	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00143483634265187	0.05
18	43432623	C	T	18	45852658	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.56116668022682E-4	0.07
18	43432624	A	C	18	45852659	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.32758051594474	0.512
18	43432624	A	G	18	45852659	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00312391480388631	0.102
18	43432624	A	T	18	45852659	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999937989660228	0.972
18	43432625	C	A	18	45852660	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.82664169360554E-5	0.056
18	43432625	C	G	18	45852660	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.02052214630949E-5	0.0
18	43432625	C	T	18	45852660	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.63259878217404E-5	0.004
18	43432626	G	A	18	45852661	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.92017719704695E-5	0.0
18	43432626	G	C	18	45852661	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00135863561030644	0.124
18	43432626	G	T	18	45852661	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999836317894842	0.99
18	43435530	A	C	18	45855565	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.1432654998204E-4	0.0
18	43435530	A	G	18	45855565	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.20939441259711E-4	0.0
18	43435530	A	T	18	45855565	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.2354209369384E-5	0.0
18	43435531	T	A	18	45855566	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.39874245362996E-4	0.042
18	43435531	T	C	18	45855566	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.90935794971038E-5	0.014
18	43435531	T	G	18	45855566	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.29029013229969E-5	0.0
18	43435532	A	C	18	45855567	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.25577609317851	0.34
18	43435532	A	G	18	45855567	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.67872520588631	0.382
18	43435532	A	T	18	45855567	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.791580231497261	0.372
18	43435533	C	A	18	45855568	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998215840394414	0.912
18	43435533	C	G	18	45855568	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.992960804079489	0.842
18	43435533	C	T	18	45855568	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997456286019597	0.954
18	43435534	T	A	18	45855569	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.557238903380724	0.436
18	43435534	T	C	18	45855569	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0697704511047204	0.326
18	43435534	T	G	18	45855569	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.399366339752433	0.484
18	43435535	G	A	18	45855570	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.82713604718144E-5	0.012
18	43435535	G	C	18	45855570	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.14823717348515E-5	0.034
18	43435535	G	T	18	45855570	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.32043323006082E-5	0.046
18	43435536	A	C	18	45855571	y	y	splicing	EPG5(NM_020964:exon44:c.7557+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7557+2T>G;ENST00000590854:exon8:c.1334+2T>G)	.	.	0.999988247793601	0.928
18	43435536	A	G	18	45855571	y	y	splicing	EPG5(NM_020964:exon44:c.7557+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7557+2T>C;ENST00000590854:exon8:c.1334+2T>C)	.	.	0.992054276455321	0.62
18	43435536	A	T	18	45855571	y	y	splicing	EPG5(NM_020964:exon44:c.7557+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7557+2T>A;ENST00000590854:exon8:c.1334+2T>A)	.	.	0.999988247793601	0.928
18	43435537	C	A	18	45855572	y	y	splicing	EPG5(NM_020964:exon44:c.7557+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7557+1G>T;ENST00000590854:exon8:c.1334+1G>T)	.	.	0.999986675681007	0.932
18	43435537	C	G	18	45855572	y	y	splicing	EPG5(NM_020964:exon44:c.7557+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7557+1G>C;ENST00000590854:exon8:c.1334+1G>C)	.	.	0.999986675681007	0.932
18	43435537	C	T	18	45855572	y	y	splicing	EPG5(NM_020964:exon44:c.7557+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7557+1G>A;ENST00000590854:exon8:c.1334+1G>A)	.	.	0.999986675681007	0.932
18	43435538	C	A	18	45855573	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.G7557T:p.Q2519H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.G7557T:p.Q2519H;	0.999982050749664	0.998
18	43435538	C	G	18	45855573	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.G7557C:p.Q2519H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.G7557C:p.Q2519H;	0.999994018449243	0.992
18	43435538	C	T	18	45855573	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon43:c.G7557A:p.Q2519Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.G7557A:p.Q2519Q;	0.999928220592832	0.988
18	43435539	T	A	18	45855574	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.A7556T:p.Q2519L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.A7556T:p.Q2519L;	0.999720701907691	0.994
18	43435539	T	C	18	45855574	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.A7556G:p.Q2519R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.A7556G:p.Q2519R;	0.999856424316988	0.988
18	43435539	T	G	18	45855574	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.A7556C:p.Q2519P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.A7556C:p.Q2519P;	0.996979196220172	0.948
18	43435540	G	A	18	45855575	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon43:c.C7555T:p.Q2519X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon43:c.C7555T:p.Q2519X;	0.996491102149874	0.868
18	43435540	G	C	18	45855575	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.C7555G:p.Q2519E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.C7555G:p.Q2519E;	0.889157651678726	0.636
18	43435540	G	T	18	45855575	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.C7555A:p.Q2519K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.C7555A:p.Q2519K;	0.907331664625114	0.81
18	43435651	A	C	18	45855686	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.T7444G:p.F2482V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.T7444G:p.F2482V;	0.36295796564495	0.346
18	43435651	A	G	18	45855686	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.T7444C:p.F2482L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.T7444C:p.F2482L;	0.609242914951331	0.47
18	43435651	A	T	18	45855686	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.T7444A:p.F2482I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.T7444A:p.F2482I;	0.457256601424523	0.372
18	43435652	C	A	18	45855687	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.G7443T:p.R2481S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.G7443T:p.R2481S;	0.999924327323902	0.994
18	43435652	C	G	18	45855687	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon43:c.G7443C:p.R2481S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.G7443C:p.R2481S;	0.999859583038129	0.988
18	43435652	C	T	18	45855687	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon43:c.G7443A:p.R2481R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon43:c.G7443A:p.R2481R;	0.961438216570201	0.63
18	43435653	C	A	18	45855688	y	y	splicing	EPG5(NM_020964:exon44:c.7443-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7443-1G>T;ENST00000590854:exon8:c.1220-1G>T)	.	.	0.999984967332678	0.938
18	43435653	C	G	18	45855688	y	y	splicing	EPG5(NM_020964:exon44:c.7443-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7443-1G>C;ENST00000590854:exon8:c.1220-1G>C)	.	.	0.999984967332678	0.938
18	43435653	C	T	18	45855688	y	y	splicing	EPG5(NM_020964:exon44:c.7443-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7443-1G>A;ENST00000590854:exon8:c.1220-1G>A)	.	.	0.999984967332678	0.938
18	43435654	T	A	18	45855689	y	y	splicing	EPG5(NM_020964:exon44:c.7443-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7443-2A>T;ENST00000590854:exon8:c.1220-2A>T)	.	.	0.999986741007567	0.936
18	43435654	T	C	18	45855689	y	y	splicing	EPG5(NM_020964:exon44:c.7443-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7443-2A>G;ENST00000590854:exon8:c.1220-2A>G)	.	.	0.999986741007567	0.936
18	43435654	T	G	18	45855689	y	y	splicing	EPG5(NM_020964:exon44:c.7443-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon44:c.7443-2A>C;ENST00000590854:exon8:c.1220-2A>C)	.	.	0.999986741007567	0.936
18	43435655	T	A	18	45855690	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.50232932644121E-4	0.016
18	43435655	T	C	18	45855690	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.403158537444171	0.41
18	43435655	T	G	18	45855690	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.60560997048723E-4	0.118
18	43435656	A	C	18	45855691	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.01744232049704E-4	0.152
18	43435656	A	G	18	45855691	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.09342763731826E-5	0.018
18	43435656	A	T	18	45855691	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.5598698270403E-6	0.0
18	43435657	G	A	18	45855692	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.51333873349873E-5	0.006
18	43435657	G	C	18	45855692	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00377785262101953	0.228
18	43435657	G	T	18	45855692	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00400389183419183	0.2
18	43435658	G	A	18	45855693	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.61749606211277E-5	0.014
18	43435658	G	C	18	45855693	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00567675113368666	0.33
18	43435658	G	T	18	45855693	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00319204830228485	0.304
18	43435659	C	A	18	45855694	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.48575850908041E-5	0.018
18	43435659	C	G	18	45855694	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.95649759474153E-5	0.02
18	43435659	C	T	18	45855694	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.84193976355622E-5	0.002
18	43435660	A	C	18	45855695	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.990161015262405	0.85
18	43435660	A	G	18	45855695	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.49477283368532E-6	0.002
18	43435660	A	T	18	45855695	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995192501361676	0.85
18	43435661	T	A	18	45855696	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.78818401656911E-4	0.036
18	43435661	T	C	18	45855696	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99864587418217	0.96
18	43435661	T	G	18	45855696	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.79895281350916E-4	0.004
18	43435662	T	A	18	45855697	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.67944982512943E-5	0.0
18	43435662	T	C	18	45855697	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.42376614359201E-5	0.0
18	43435662	T	G	18	45855697	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.67944982512943E-5	0.0
18	43435663	A	C	18	45855698	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.347735013716783	0.52
18	43435663	A	G	18	45855698	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00803229300351727	0.122
18	43435663	A	T	18	45855698	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.342666164838957	0.608
18	43435664	G	A	18	45855699	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.6902616494385E-5	0.002
18	43435664	G	C	18	45855699	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00419304631558127	0.08
18	43435664	G	T	18	45855699	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00401434040969936	0.098
18	43437810	T	A	18	45857845	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	1.08112530562505E-5	0.0
18	43437810	T	C	18	45857845	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	1.33984070840462E-5	0.0
18	43437810	T	G	18	45857845	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	1.00194793562392E-5	0.002
18	43437811	T	A	18	45857846	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	5.84569753739683E-5	0.0
18	43437811	T	C	18	45857846	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	4.39321167456118E-5	0.0
18	43437811	T	G	18	45857846	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	3.951189346585E-5	0.0
18	43437812	C	A	18	45857847	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	2.01243025682001E-5	0.0
18	43437812	C	G	18	45857847	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	7.38604973267437E-5	0.002
18	43437812	C	T	18	45857847	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	5.10443763094993E-5	0.002
18	43437813	C	A	18	45857848	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	0.863273678853539	0.486
18	43437813	C	G	18	45857848	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	0.68363591993988	0.426
18	43437813	C	T	18	45857848	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	0.933921522972566	0.548
18	43437814	T	A	18	45857849	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	0.0542183619948116	0.322
18	43437814	T	C	18	45857849	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	0.250162058750724	0.41
18	43437814	T	G	18	45857849	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	0.0306521871917287	0.328
18	43437815	T	A	18	45857850	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	0.203712671055059	0.35
18	43437815	T	C	18	45857850	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	1.82955212629961E-4	0.002
18	43437815	T	G	18	45857850	y	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	0.61743533695433	0.406
18	43437816	A	C	18	45857851	y	y	splicing	EPG5(NM_020964:exon43:c.7442+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7442+2T>G;ENST00000590854:exon7:c.1219+2T>G)	.	.	0.999988247793601	0.928
18	43437816	A	G	18	45857851	y	y	splicing	EPG5(NM_020964:exon43:c.7442+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7442+2T>C;ENST00000590854:exon7:c.1219+2T>C)	.	.	0.986973409415639	0.64
18	43437816	A	T	18	45857851	y	y	splicing	EPG5(NM_020964:exon43:c.7442+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7442+2T>A;ENST00000590854:exon7:c.1219+2T>A)	.	.	0.999988247793601	0.928
18	43437817	C	A	18	45857852	y	y	splicing	EPG5(NM_020964:exon43:c.7442+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7442+1G>T;ENST00000590854:exon7:c.1219+1G>T)	.	.	0.999989072007339	0.934
18	43437817	C	G	18	45857852	y	y	splicing	EPG5(NM_020964:exon43:c.7442+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7442+1G>C;ENST00000590854:exon7:c.1219+1G>C)	.	.	0.999989072007339	0.934
18	43437817	C	T	18	45857852	y	y	splicing	EPG5(NM_020964:exon43:c.7442+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7442+1G>A;ENST00000590854:exon7:c.1219+1G>A)	.	.	0.999989072007339	0.934
18	43437818	C	A	18	45857853	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.G7442T:p.R2481M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.G7442T:p.R2481M;	0.999486839449959	0.942
18	43437818	C	G	18	45857853	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.G7442C:p.R2481T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.G7442C:p.R2481T;	0.999953949991681	0.976
18	43437818	C	T	18	45857853	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.G7442A:p.R2481K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.G7442A:p.R2481K;	0.999917836986477	0.994
18	43437819	T	A	18	45857854	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.A7441T:p.R2481W;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.A7441T:p.R2481W;	0.984680593385474	0.476
18	43437819	T	C	18	45857854	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.A7441G:p.R2481G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.A7441G:p.R2481G;	0.995526075627863	0.914
18	43437819	T	G	18	45857854	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon42:c.A7441C:p.R2481R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.A7441C:p.R2481R;	0.434498887741512	0.586
18	43437820	G	A	18	45857855	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon42:c.C7440T:p.N2480N;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.C7440T:p.N2480N;	0.361822277414397	0.348
18	43437820	G	C	18	45857855	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.C7440G:p.N2480K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.C7440G:p.N2480K;	0.91153392850799	0.622
18	43437820	G	T	18	45857855	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.C7440A:p.N2480K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.C7440A:p.N2480K;	0.941200222797911	0.732
18	43438032	A	C	18	45858067	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.T7228G:p.S2410A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.T7228G:p.S2410A;	0.215339852402934	0.33
18	43438032	A	G	18	45858067	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.T7228C:p.S2410P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.T7228C:p.S2410P;	0.189448813424882	0.434
18	43438032	A	T	18	45858067	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.T7228A:p.S2410T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.T7228A:p.S2410T;	0.242449203059603	0.296
18	43438033	G	A	18	45858068	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon42:c.C7227T:p.S2409S;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.C7227T:p.S2409S;	0.00336642454233063	0.116
18	43438033	G	C	18	45858068	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.C7227G:p.S2409R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.C7227G:p.S2409R;	4.68513345218629E-4	0.114
18	43438033	G	T	18	45858068	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon42:c.C7227A:p.S2409R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon42:c.C7227A:p.S2409R;	1.81007462969434E-4	0.018
18	43438034	C	A	18	45858069	y	y	splicing	EPG5(NM_020964:exon43:c.7227-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7227-1G>T;ENST00000590854:exon7:c.1004-1G>T;ENST00000587884:exon27:c.3978-1G>T;ENST00000590884:exon24:c.3513-1G>T;ENST00000592272:exon25:c.3745-1G>T)	.	.	0.999986675681007	0.932
18	43438034	C	G	18	45858069	y	y	splicing	EPG5(NM_020964:exon43:c.7227-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7227-1G>C;ENST00000590854:exon7:c.1004-1G>C;ENST00000587884:exon27:c.3978-1G>C;ENST00000590884:exon24:c.3513-1G>C;ENST00000592272:exon25:c.3745-1G>C)	.	.	0.999986675681007	0.932
18	43438034	C	T	18	45858069	y	y	splicing	EPG5(NM_020964:exon43:c.7227-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7227-1G>A;ENST00000590854:exon7:c.1004-1G>A;ENST00000587884:exon27:c.3978-1G>A;ENST00000590884:exon24:c.3513-1G>A;ENST00000592272:exon25:c.3745-1G>A)	.	.	0.999986675681007	0.932
18	43438035	T	A	18	45858070	y	y	splicing	EPG5(NM_020964:exon43:c.7227-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7227-2A>T;ENST00000590854:exon7:c.1004-2A>T;ENST00000587884:exon27:c.3978-2A>T;ENST00000590884:exon24:c.3513-2A>T;ENST00000592272:exon25:c.3745-2A>T)	.	.	0.999988247793601	0.924
18	43438035	T	C	18	45858070	y	y	splicing	EPG5(NM_020964:exon43:c.7227-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7227-2A>G;ENST00000590854:exon7:c.1004-2A>G;ENST00000587884:exon27:c.3978-2A>G;ENST00000590884:exon24:c.3513-2A>G;ENST00000592272:exon25:c.3745-2A>G)	.	.	0.999988247793601	0.924
18	43438035	T	G	18	45858070	y	y	splicing	EPG5(NM_020964:exon43:c.7227-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon43:c.7227-2A>C;ENST00000590854:exon7:c.1004-2A>C;ENST00000587884:exon27:c.3978-2A>C;ENST00000590884:exon24:c.3513-2A>C;ENST00000592272:exon25:c.3745-2A>C)	.	.	0.999988247793601	0.924
18	43438036	A	C	18	45858071	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.957717362333687	0.714
18	43438036	A	G	18	45858071	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.37534875228703E-5	0.004
18	43438036	A	T	18	45858071	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.140838686201288	0.276
18	43438037	G	A	18	45858072	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.32468480284723E-4	0.008
18	43438037	G	C	18	45858072	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.49994767962421E-5	0.01
18	43438037	G	T	18	45858072	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.47937247782988E-5	0.016
18	43438038	G	A	18	45858073	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.55002328095181E-4	0.03
18	43438038	G	C	18	45858073	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00724507991520753	0.172
18	43438038	G	T	18	45858073	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00970106482390512	0.148
18	43438039	G	A	18	45858074	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.00704806272611E-5	0.024
18	43438039	G	C	18	45858074	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.10730014637531	0.346
18	43438039	G	T	18	45858074	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0154463886195732	0.318
18	43438040	G	A	18	45858075	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.60512154243887E-5	0.0
18	43438040	G	C	18	45858075	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00122911370290849	0.06
18	43438040	G	T	18	45858075	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00122911370290849	0.07
18	43438041	A	C	18	45858076	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00100000021390577	0.248
18	43438041	A	G	18	45858076	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.13310197406778E-5	0.0
18	43438041	A	T	18	45858076	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0744340839971696	0.228
18	43438042	G	A	18	45858077	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.5570698627923E-5	0.0
18	43438042	G	C	18	45858077	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00136838303865124	0.088
18	43438042	G	T	18	45858077	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0101717049330109	0.048
18	43438043	G	A	18	45858078	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.76201899951081E-5	0.0
18	43438043	G	C	18	45858078	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.812448583219E-4	0.064
18	43438043	G	T	18	45858078	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.93109558016808E-4	0.032
18	43438044	C	A	18	45858079	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.08137286521795E-5	0.044
18	43438044	C	G	18	45858079	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.71207576326182E-5	0.0
18	43438044	C	T	18	45858079	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.16390641646107E-4	0.008
18	43438045	A	C	18	45858080	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0296233370899511	0.374
18	43438045	A	G	18	45858080	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.59562677240048E-4	0.016
18	43438045	A	T	18	45858080	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.986598915152775	0.826
18	43438523	C	A	18	45858558	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.65913405590462E-5	0.016
18	43438523	C	G	18	45858558	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.65913405590462E-5	0.016
18	43438523	C	T	18	45858558	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.65913405590462E-5	0.018
18	43438524	A	C	18	45858559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.83320898566216E-5	0.0
18	43438524	A	G	18	45858559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.81474896170976E-5	0.0
18	43438524	A	T	18	45858559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.81474896170976E-5	0.0
18	43438525	A	C	18	45858560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.20295602525424E-4	0.17
18	43438525	A	G	18	45858560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0030945284894808	0.258
18	43438525	A	T	18	45858560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0040494120617224	0.168
18	43438526	C	A	18	45858561	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.24470617278939	0.498
18	43438526	C	G	18	45858561	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.448282118933961	0.456
18	43438526	C	T	18	45858561	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.916473846045985	0.642
18	43438527	G	A	18	45858562	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.06329193413907E-5	0.044
18	43438527	G	C	18	45858562	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.97474320902345E-5	0.016
18	43438527	G	T	18	45858562	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.89864553368719E-5	0.018
18	43438528	T	A	18	45858563	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.272817661362186	0.488
18	43438528	T	C	18	45858563	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00899182968892408	0.204
18	43438528	T	G	18	45858563	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.944286749373893	0.588
18	43438529	A	C	18	45858564	y	y	splicing	EPG5(NM_020964:exon42:c.7226+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7226+2T>G;ENST00000590854:exon6:c.1003+2T>G;ENST00000587884:exon26:c.3977+2T>G;ENST00000590884:exon23:c.3512+2T>G;ENST00000592272:exon24:c.3744+2T>G)	.	.	0.999988247793601	0.928
18	43438529	A	G	18	45858564	y	y	splicing	EPG5(NM_020964:exon42:c.7226+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7226+2T>C;ENST00000590854:exon6:c.1003+2T>C;ENST00000587884:exon26:c.3977+2T>C;ENST00000590884:exon23:c.3512+2T>C;ENST00000592272:exon24:c.3744+2T>C)	.	.	0.992170299401963	0.666
18	43438529	A	T	18	45858564	y	y	splicing	EPG5(NM_020964:exon42:c.7226+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7226+2T>A;ENST00000590854:exon6:c.1003+2T>A;ENST00000587884:exon26:c.3977+2T>A;ENST00000590884:exon23:c.3512+2T>A;ENST00000592272:exon24:c.3744+2T>A)	.	.	0.999988247793601	0.928
18	43438530	C	A	18	45858565	y	y	splicing	EPG5(NM_020964:exon42:c.7226+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7226+1G>T;ENST00000590854:exon6:c.1003+1G>T;ENST00000587884:exon26:c.3977+1G>T;ENST00000590884:exon23:c.3512+1G>T;ENST00000592272:exon24:c.3744+1G>T)	.	.	0.999989072007339	0.934
18	43438530	C	G	18	45858565	y	y	splicing	EPG5(NM_020964:exon42:c.7226+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7226+1G>C;ENST00000590854:exon6:c.1003+1G>C;ENST00000587884:exon26:c.3977+1G>C;ENST00000590884:exon23:c.3512+1G>C;ENST00000592272:exon24:c.3744+1G>C)	.	.	0.999989072007339	0.934
18	43438530	C	T	18	45858565	y	y	splicing	EPG5(NM_020964:exon42:c.7226+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7226+1G>A;ENST00000590854:exon6:c.1003+1G>A;ENST00000587884:exon26:c.3977+1G>A;ENST00000590884:exon23:c.3512+1G>A;ENST00000592272:exon24:c.3744+1G>A)	.	.	0.999989072007339	0.934
18	43438531	C	A	18	45858566	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.G7226T:p.S2409I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.G7226T:p.S2409I;	0.99998091165069	0.97
18	43438531	C	G	18	45858566	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.G7226C:p.S2409T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.G7226C:p.S2409T;	0.999622654912234	0.83
18	43438531	C	T	18	45858566	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.G7226A:p.S2409N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.G7226A:p.S2409N;	0.999727476379835	0.968
18	43438532	T	A	18	45858567	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.A7225T:p.S2409C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.A7225T:p.S2409C;	0.96760090025783	0.592
18	43438532	T	C	18	45858567	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.A7225G:p.S2409G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.A7225G:p.S2409G;	0.23149979942424	0.37
18	43438532	T	G	18	45858567	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.A7225C:p.S2409R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.A7225C:p.S2409R;	0.0552654968162321	0.484
18	43438533	T	A	18	45858568	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon41:c.A7224T:p.P2408P;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.A7224T:p.P2408P;	0.00190873618512408	0.19
18	43438533	T	C	18	45858568	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon41:c.A7224G:p.P2408P;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.A7224G:p.P2408P;	2.18337359001806E-5	0.004
18	43438533	T	G	18	45858568	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon41:c.A7224C:p.P2408P;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.A7224C:p.P2408P;	9.94424450411847E-6	0.0
18	43438746	G	A	18	45858781	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon41:c.C7011T:p.S2337S;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.C7011T:p.S2337S;	3.13646958283037E-4	0.002
18	43438746	G	C	18	45858781	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.C7011G:p.S2337R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.C7011G:p.S2337R;	1.31309282272177E-4	0.006
18	43438746	G	T	18	45858781	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.C7011A:p.S2337R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.C7011A:p.S2337R;	4.73571463982038E-4	0.014
18	43438747	C	A	18	45858782	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.G7010T:p.S2337I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.G7010T:p.S2337I;	0.84877810287912	0.72
18	43438747	C	G	18	45858782	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.G7010C:p.S2337T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.G7010C:p.S2337T;	0.0769098814090073	0.378
18	43438747	C	T	18	45858782	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon41:c.G7010A:p.S2337N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon41:c.G7010A:p.S2337N;	0.00236995712986482	0.132
18	43438748	C	A	18	45858783	y	y	splicing	EPG5(NM_020964:exon42:c.7010-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7010-1G>T;ENST00000590854:exon6:c.787-1G>T;ENST00000587884:exon26:c.3761-1G>T;ENST00000590884:exon23:c.3296-1G>T;ENST00000592272:exon24:c.3528-1G>T)	.	.	0.999989072007339	0.932
18	43438748	C	G	18	45858783	y	y	splicing	EPG5(NM_020964:exon42:c.7010-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7010-1G>C;ENST00000590854:exon6:c.787-1G>C;ENST00000587884:exon26:c.3761-1G>C;ENST00000590884:exon23:c.3296-1G>C;ENST00000592272:exon24:c.3528-1G>C)	.	.	0.999989072007339	0.932
18	43438748	C	T	18	45858783	y	y	splicing	EPG5(NM_020964:exon42:c.7010-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7010-1G>A;ENST00000590854:exon6:c.787-1G>A;ENST00000587884:exon26:c.3761-1G>A;ENST00000590884:exon23:c.3296-1G>A;ENST00000592272:exon24:c.3528-1G>A)	.	.	0.999989072007339	0.932
18	43438749	T	A	18	45858784	y	y	splicing	EPG5(NM_020964:exon42:c.7010-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7010-2A>T;ENST00000590854:exon6:c.787-2A>T;ENST00000587884:exon26:c.3761-2A>T;ENST00000590884:exon23:c.3296-2A>T;ENST00000592272:exon24:c.3528-2A>T)	.	.	0.999988247793601	0.93
18	43438749	T	C	18	45858784	y	y	splicing	EPG5(NM_020964:exon42:c.7010-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7010-2A>G;ENST00000590854:exon6:c.787-2A>G;ENST00000587884:exon26:c.3761-2A>G;ENST00000590884:exon23:c.3296-2A>G;ENST00000592272:exon24:c.3528-2A>G)	.	.	0.999988247793601	0.93
18	43438749	T	G	18	45858784	y	y	splicing	EPG5(NM_020964:exon42:c.7010-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon42:c.7010-2A>C;ENST00000590854:exon6:c.787-2A>C;ENST00000587884:exon26:c.3761-2A>C;ENST00000590884:exon23:c.3296-2A>C;ENST00000592272:exon24:c.3528-2A>C)	.	.	0.999988247793601	0.93
18	43438750	A	C	18	45858785	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.927945185676944	0.712
18	43438750	A	G	18	45858785	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.31333052943319E-5	0.006
18	43438750	A	T	18	45858785	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.89319528598035E-4	0.162
18	43438751	A	C	18	45858786	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.61503187491046E-4	0.0
18	43438751	A	G	18	45858786	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.2285541522823E-5	0.002
18	43438751	A	T	18	45858786	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.11072009844678E-4	0.0
18	43438752	G	A	18	45858787	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.50714567537486E-5	0.002
18	43438752	G	C	18	45858787	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00837691095348992	0.12
18	43438752	G	T	18	45858787	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00377327438022095	0.064
18	43438753	A	C	18	45858788	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.013467601830754	0.242
18	43438753	A	G	18	45858788	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.89767607736271E-5	0.0
18	43438753	A	T	18	45858788	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.017321607374308	0.214
18	43438754	A	C	18	45858789	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0383955195348136	0.116
18	43438754	A	G	18	45858789	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.17397757608191E-4	0.02
18	43438754	A	T	18	45858789	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.217152662258289	0.148
18	43438755	C	A	18	45858790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.61204970410299E-4	0.0
18	43438755	C	G	18	45858790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.72602640958922E-4	0.004
18	43438755	C	T	18	45858790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00473680915425363	0.038
18	43438756	A	C	18	45858791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999898572662513	0.936
18	43438756	A	G	18	45858791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.14654281792995E-4	0.008
18	43438756	A	T	18	45858791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999809730516615	0.942
18	43438757	T	A	18	45858792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.95076949036759E-5	0.0
18	43438757	T	C	18	45858792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.57853609074175E-5	0.0
18	43438757	T	G	18	45858792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.19456787526795E-5	0.012
18	43438758	G	A	18	45858793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.84275610127688E-5	0.0
18	43438758	G	C	18	45858793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.79634587438964E-4	0.028
18	43438758	G	T	18	45858793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.32215148605101E-4	0.006
18	43438759	A	C	18	45858794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0206519413578512	0.258
18	43438759	A	G	18	45858794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.00664700790598E-4	0.02
18	43438759	A	T	18	45858794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0430031312146162	0.306
18	43440061	C	A	18	45860096	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.61711578836393E-5	0.0
18	43440061	C	G	18	45860096	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.61177722740274E-5	0.0
18	43440061	C	T	18	45860096	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.8475912466696E-5	0.0
18	43440062	C	A	18	45860097	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.35507357323123E-4	0.012
18	43440062	C	G	18	45860097	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.62284328782344E-4	0.0
18	43440062	C	T	18	45860097	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.62284328782344E-4	0.0
18	43440063	T	A	18	45860098	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.3242228570282E-5	0.006
18	43440063	T	C	18	45860098	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.13028678685941E-5	0.0
18	43440063	T	G	18	45860098	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.85073973475455E-5	0.018
18	43440064	C	A	18	45860099	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999993320979416	0.986
18	43440064	C	G	18	45860099	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999979745509955	0.99
18	43440064	C	T	18	45860099	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999974542799409	0.956
18	43440065	T	A	18	45860100	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.989420588286463	0.588
18	43440065	T	C	18	45860100	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99061070341844	0.68
18	43440065	T	G	18	45860100	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.678406027813805	0.53
18	43440066	T	A	18	45860101	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998284684229182	0.796
18	43440066	T	C	18	45860101	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0256804052779402	0.312
18	43440066	T	G	18	45860101	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997991261084674	0.79
18	43440067	A	C	18	45860102	y	y	splicing	EPG5(NM_020964:exon41:c.7009+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.7009+2T>G;ENST00000590854:exon5:c.786+2T>G;ENST00000587884:exon25:c.3760+2T>G;ENST00000590884:exon22:c.3295+2T>G;ENST00000592272:exon23:c.3527+2T>G)	.	.	0.999988247793601	0.926
18	43440067	A	G	18	45860102	y	y	splicing	EPG5(NM_020964:exon41:c.7009+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.7009+2T>C;ENST00000590854:exon5:c.786+2T>C;ENST00000587884:exon25:c.3760+2T>C;ENST00000590884:exon22:c.3295+2T>C;ENST00000592272:exon23:c.3527+2T>C)	.	.	0.995944345829671	0.648
18	43440067	A	T	18	45860102	y	y	splicing	EPG5(NM_020964:exon41:c.7009+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.7009+2T>A;ENST00000590854:exon5:c.786+2T>A;ENST00000587884:exon25:c.3760+2T>A;ENST00000590884:exon22:c.3295+2T>A;ENST00000592272:exon23:c.3527+2T>A)	.	.	0.999988247793601	0.914
18	43440068	C	A	18	45860103	y	y	splicing	EPG5(NM_020964:exon41:c.7009+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.7009+1G>T;ENST00000590854:exon5:c.786+1G>T;ENST00000587884:exon25:c.3760+1G>T;ENST00000590884:exon22:c.3295+1G>T;ENST00000592272:exon23:c.3527+1G>T)	.	.	0.999985532734767	0.936
18	43440068	C	G	18	45860103	y	y	splicing	EPG5(NM_020964:exon41:c.7009+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.7009+1G>C;ENST00000590854:exon5:c.786+1G>C;ENST00000587884:exon25:c.3760+1G>C;ENST00000590884:exon22:c.3295+1G>C;ENST00000592272:exon23:c.3527+1G>C)	.	.	0.999985532734767	0.936
18	43440068	C	T	18	45860103	y	y	splicing	EPG5(NM_020964:exon41:c.7009+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.7009+1G>A;ENST00000590854:exon5:c.786+1G>A;ENST00000587884:exon25:c.3760+1G>A;ENST00000590884:exon22:c.3295+1G>A;ENST00000592272:exon23:c.3527+1G>A)	.	.	0.999985532734767	0.936
18	43440069	T	A	18	45860104	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A7009T:p.S2337C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7009T:p.S2337C;	4.02854401875126E-4	0.116
18	43440069	T	C	18	45860104	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A7009G:p.S2337G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7009G:p.S2337G;	1.62151613971268E-4	0.048
18	43440069	T	G	18	45860104	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A7009C:p.S2337R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7009C:p.S2337R;	1.05660657877024E-4	0.076
18	43440070	T	A	18	45860105	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A7008T:p.E2336D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7008T:p.E2336D;	0.855024412262411	0.632
18	43440070	T	C	18	45860105	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon40:c.A7008G:p.E2336E;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7008G:p.E2336E;	0.446130956564789	0.536
18	43440070	T	G	18	45860105	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A7008C:p.E2336D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7008C:p.E2336D;	0.402476406758104	0.586
18	43440071	T	A	18	45860106	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A7007T:p.E2336V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7007T:p.E2336V;	0.992832594989556	0.756
18	43440071	T	C	18	45860106	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A7007G:p.E2336G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7007G:p.E2336G;	0.162138442395273	0.356
18	43440071	T	G	18	45860106	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A7007C:p.E2336A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A7007C:p.E2336A;	0.16202797903458	0.432
18	43440310	G	A	18	45860345	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon40:c.C6768T:p.D2256D;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.C6768T:p.D2256D;	9.1975324287785E-6	0.006
18	43440310	G	C	18	45860345	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.C6768G:p.D2256E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.C6768G:p.D2256E;	4.6099515643686E-5	0.026
18	43440310	G	T	18	45860345	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.C6768A:p.D2256E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.C6768A:p.D2256E;	6.23174554815781E-5	0.02
18	43440311	T	A	18	45860346	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A6767T:p.D2256V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A6767T:p.D2256V;	0.462365638371561	0.546
18	43440311	T	C	18	45860346	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A6767G:p.D2256G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A6767G:p.D2256G;	0.00294859925485431	0.064
18	43440311	T	G	18	45860346	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon40:c.A6767C:p.D2256A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon40:c.A6767C:p.D2256A;	0.201628024186172	0.492
18	43440312	C	A	18	45860347	y	y	splicing	EPG5(NM_020964:exon41:c.6767-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.6767-1G>T;ENST00000590854:exon5:c.544-1G>T;ENST00000587884:exon25:c.3518-1G>T;ENST00000590884:exon22:c.3053-1G>T;ENST00000592272:exon23:c.3285-1G>T)	.	.	0.999985532734767	0.934
18	43440312	C	G	18	45860347	y	y	splicing	EPG5(NM_020964:exon41:c.6767-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.6767-1G>C;ENST00000590854:exon5:c.544-1G>C;ENST00000587884:exon25:c.3518-1G>C;ENST00000590884:exon22:c.3053-1G>C;ENST00000592272:exon23:c.3285-1G>C)	.	.	0.999985532734767	0.934
18	43440312	C	T	18	45860347	y	y	splicing	EPG5(NM_020964:exon41:c.6767-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.6767-1G>A;ENST00000590854:exon5:c.544-1G>A;ENST00000587884:exon25:c.3518-1G>A;ENST00000590884:exon22:c.3053-1G>A;ENST00000592272:exon23:c.3285-1G>A)	.	.	0.999985532734767	0.936
18	43440313	T	A	18	45860348	y	y	splicing	EPG5(NM_020964:exon41:c.6767-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.6767-2A>T;ENST00000590854:exon5:c.544-2A>T;ENST00000587884:exon25:c.3518-2A>T;ENST00000590884:exon22:c.3053-2A>T;ENST00000592272:exon23:c.3285-2A>T)	.	.	0.999988247793601	0.926
18	43440313	T	C	18	45860348	y	y	splicing	EPG5(NM_020964:exon41:c.6767-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.6767-2A>G;ENST00000590854:exon5:c.544-2A>G;ENST00000587884:exon25:c.3518-2A>G;ENST00000590884:exon22:c.3053-2A>G;ENST00000592272:exon23:c.3285-2A>G)	.	.	0.999988247793601	0.926
18	43440313	T	G	18	45860348	y	y	splicing	EPG5(NM_020964:exon41:c.6767-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon41:c.6767-2A>C;ENST00000590854:exon5:c.544-2A>C;ENST00000587884:exon25:c.3518-2A>C;ENST00000590884:exon22:c.3053-2A>C;ENST00000592272:exon23:c.3285-2A>C)	.	.	0.999988247793601	0.926
18	43440314	G	A	18	45860349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00390985110061928	0.058
18	43440314	G	C	18	45860349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999570022503033	0.966
18	43440314	G	T	18	45860349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.974121186146586	0.648
18	43440315	A	C	18	45860350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.32177183124643E-4	0.006
18	43440315	A	G	18	45860350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.22688894504908E-4	0.006
18	43440315	A	T	18	45860350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.73339716017756E-5	0.0
18	43440316	A	C	18	45860351	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.287158159868435	0.256
18	43440316	A	G	18	45860351	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.24569535678197E-4	0.0
18	43440316	A	T	18	45860351	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.139572308494223	0.27
18	43440317	A	C	18	45860352	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0634342494254642	0.186
18	43440317	A	G	18	45860352	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.21499997803187E-5	0.0
18	43440317	A	T	18	45860352	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00686959806442575	0.12
18	43440318	G	A	18	45860353	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.07611517689826E-4	0.0
18	43440318	G	C	18	45860353	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00300102092244246	0.136
18	43440318	G	T	18	45860353	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0027753294243839	0.066
18	43440319	G	A	18	45860354	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.95823485892972E-5	0.0
18	43440319	G	C	18	45860354	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0024446603538876	0.086
18	43440319	G	T	18	45860354	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.27163625638391E-4	0.05
18	43440320	A	C	18	45860355	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0294811034905788	0.3
18	43440320	A	G	18	45860355	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.92045127571841E-5	0.002
18	43440320	A	T	18	45860355	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0135606238529082	0.27
18	43440321	A	C	18	45860356	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99975974732052	0.982
18	43440321	A	G	18	45860356	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.24068021394019E-4	0.002
18	43440321	A	T	18	45860356	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00362350043867346	0.156
18	43440322	T	A	18	45860357	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.84359681252522E-4	0.02
18	43440322	T	C	18	45860357	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.96818079733521E-5	0.006
18	43440322	T	G	18	45860357	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.95391411083786E-5	0.0
18	43440323	A	C	18	45860358	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999845536315524	0.978
18	43440323	A	G	18	45860358	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.00799738159871E-4	0.008
18	43440323	A	T	18	45860358	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0236135343465086	0.312
18	43445572	T	A	18	45865607	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.49095568121249E-5	0.0
18	43445572	T	C	18	45865607	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.25873996844516E-5	0.0
18	43445572	T	G	18	45865607	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.12147914069476E-5	0.0
18	43445573	C	A	18	45865608	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00856653316777073	0.068
18	43445573	C	G	18	45865608	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0036545329847408	0.072
18	43445573	C	T	18	45865608	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0122852881114865	0.082
18	43445574	A	C	18	45865609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00461362528988365	0.166
18	43445574	A	G	18	45865609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.173551741663029	0.342
18	43445574	A	T	18	45865609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0228962155892711	0.25
18	43445575	C	A	18	45865610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999880780574825	0.898
18	43445575	C	G	18	45865610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999325888417527	0.838
18	43445575	C	T	18	45865610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999575261137125	0.868
18	43445576	T	A	18	45865611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.7870447421148	0.654
18	43445576	T	C	18	45865611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.915914348116594	0.572
18	43445576	T	G	18	45865611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.706417960191778	0.646
18	43445577	T	A	18	45865612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.958786653819056	0.622
18	43445577	T	C	18	45865612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.61992897940769E-4	0.048
18	43445577	T	G	18	45865612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.942602813666516	0.654
18	43445578	A	C	18	45865613	y	y	splicing	EPG5(NM_020964:exon40:c.6766+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6766+2T>G;ENST00000590854:exon4:c.543+2T>G;ENST00000587884:exon24:c.3517+2T>G;ENST00000590884:exon21:c.3052+2T>G;ENST00000592272:exon22:c.3284+2T>G)	.	.	0.999988247793601	0.928
18	43445578	A	G	18	45865613	y	y	splicing	EPG5(NM_020964:exon40:c.6766+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6766+2T>C;ENST00000590854:exon4:c.543+2T>C;ENST00000587884:exon24:c.3517+2T>C;ENST00000590884:exon21:c.3052+2T>C;ENST00000592272:exon22:c.3284+2T>C)	.	.	0.991783327640129	0.666
18	43445578	A	T	18	45865613	y	y	splicing	EPG5(NM_020964:exon40:c.6766+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6766+2T>A;ENST00000590854:exon4:c.543+2T>A;ENST00000587884:exon24:c.3517+2T>A;ENST00000590884:exon21:c.3052+2T>A;ENST00000592272:exon22:c.3284+2T>A)	.	.	0.999988247793601	0.928
18	43445579	C	A	18	45865614	y	y	splicing	EPG5(NM_020964:exon40:c.6766+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6766+1G>T;ENST00000590854:exon4:c.543+1G>T;ENST00000587884:exon24:c.3517+1G>T;ENST00000590884:exon21:c.3052+1G>T;ENST00000592272:exon22:c.3284+1G>T)	.	.	0.999989072007339	0.928
18	43445579	C	G	18	45865614	y	y	splicing	EPG5(NM_020964:exon40:c.6766+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6766+1G>C;ENST00000590854:exon4:c.543+1G>C;ENST00000587884:exon24:c.3517+1G>C;ENST00000590884:exon21:c.3052+1G>C;ENST00000592272:exon22:c.3284+1G>C)	.	.	0.999989072007339	0.928
18	43445579	C	T	18	45865614	y	y	splicing	EPG5(NM_020964:exon40:c.6766+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6766+1G>A;ENST00000590854:exon4:c.543+1G>A;ENST00000587884:exon24:c.3517+1G>A;ENST00000590884:exon21:c.3052+1G>A;ENST00000592272:exon22:c.3284+1G>A)	.	.	0.999989072007339	0.928
18	43445580	C	A	18	45865615	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.G6766T:p.D2256Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.G6766T:p.D2256Y;	0.999852935655385	0.982
18	43445580	C	G	18	45865615	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.G6766C:p.D2256H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.G6766C:p.D2256H;	0.9999591862627	0.96
18	43445580	C	T	18	45865615	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.G6766A:p.D2256N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.G6766A:p.D2256N;	0.998177816139242	0.914
18	43445581	G	A	18	45865616	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon39:c.C6765T:p.P2255P;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.C6765T:p.P2255P;	1.07792260548003E-4	0.028
18	43445581	G	C	18	45865616	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon39:c.C6765G:p.P2255P;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.C6765G:p.P2255P;	1.01539627914583E-4	0.0
18	43445581	G	T	18	45865616	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon39:c.C6765A:p.P2255P;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.C6765A:p.P2255P;	5.16356356287993E-5	0.044
18	43445582	G	A	18	45865617	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.C6764T:p.P2255L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.C6764T:p.P2255L;	0.997182553353231	0.656
18	43445582	G	C	18	45865617	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.C6764G:p.P2255R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.C6764G:p.P2255R;	0.910358340530386	0.638
18	43445582	G	T	18	45865617	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.C6764A:p.P2255H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.C6764A:p.P2255H;	0.955534112263756	0.812
18	43445723	T	A	18	45865758	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.A6623T:p.D2208V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.A6623T:p.D2208V;	0.880459914507213	0.83
18	43445723	T	C	18	45865758	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.A6623G:p.D2208G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.A6623G:p.D2208G;	0.920005699972606	0.676
18	43445723	T	G	18	45865758	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.A6623C:p.D2208A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.A6623C:p.D2208A;	0.923001757800964	0.866
18	43445724	C	A	18	45865759	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.G6622T:p.D2208Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.G6622T:p.D2208Y;	0.999741794167099	0.996
18	43445724	C	G	18	45865759	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.G6622C:p.D2208H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.G6622C:p.D2208H;	0.99969181975527	0.956
18	43445724	C	T	18	45865759	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon39:c.G6622A:p.D2208N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon39:c.G6622A:p.D2208N;	0.999382678617137	0.93
18	43445725	C	A	18	45865760	y	y	splicing	EPG5(NM_020964:exon40:c.6622-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6622-1G>T;ENST00000590854:exon4:c.399-1G>T;ENST00000587884:exon24:c.3373-1G>T;ENST00000590884:exon21:c.2908-1G>T;ENST00000592272:exon22:c.3140-1G>T)	.	.	0.999990361384395	0.938
18	43445725	C	G	18	45865760	y	y	splicing	EPG5(NM_020964:exon40:c.6622-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6622-1G>C;ENST00000590854:exon4:c.399-1G>C;ENST00000587884:exon24:c.3373-1G>C;ENST00000590884:exon21:c.2908-1G>C;ENST00000592272:exon22:c.3140-1G>C)	.	.	0.999990361384395	0.938
18	43445725	C	T	18	45865760	y	y	splicing	EPG5(NM_020964:exon40:c.6622-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6622-1G>A;ENST00000590854:exon4:c.399-1G>A;ENST00000587884:exon24:c.3373-1G>A;ENST00000590884:exon21:c.2908-1G>A;ENST00000592272:exon22:c.3140-1G>A)	.	.	0.999990361384395	0.938
18	43445726	T	A	18	45865761	y	y	splicing	EPG5(NM_020964:exon40:c.6622-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6622-2A>T;ENST00000590854:exon4:c.399-2A>T;ENST00000587884:exon24:c.3373-2A>T;ENST00000590884:exon21:c.2908-2A>T;ENST00000592272:exon22:c.3140-2A>T)	.	.	0.999988247793601	0.932
18	43445726	T	C	18	45865761	y	y	splicing	EPG5(NM_020964:exon40:c.6622-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6622-2A>G;ENST00000590854:exon4:c.399-2A>G;ENST00000587884:exon24:c.3373-2A>G;ENST00000590884:exon21:c.2908-2A>G;ENST00000592272:exon22:c.3140-2A>G)	.	.	0.999988247793601	0.932
18	43445726	T	G	18	45865761	y	y	splicing	EPG5(NM_020964:exon40:c.6622-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon40:c.6622-2A>C;ENST00000590854:exon4:c.399-2A>C;ENST00000587884:exon24:c.3373-2A>C;ENST00000590884:exon21:c.2908-2A>C;ENST00000592272:exon22:c.3140-2A>C)	.	.	0.999988247793601	0.932
18	43445727	G	A	18	45865762	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0025404337320975	0.124
18	43445727	G	C	18	45865762	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997773126965611	0.872
18	43445727	G	T	18	45865762	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.741992685550038	0.542
18	43445728	A	C	18	45865763	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.18052667070861E-5	0.004
18	43445728	A	G	18	45865763	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.28608366541997E-5	0.004
18	43445728	A	T	18	45865763	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.35506233983166E-5	0.002
18	43445729	C	A	18	45865764	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.39338172429657E-5	0.02
18	43445729	C	G	18	45865764	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.68337806606233E-5	0.002
18	43445729	C	T	18	45865764	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.15633564172332E-5	0.016
18	43445730	C	A	18	45865765	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.47644073247297E-5	0.008
18	43445730	C	G	18	45865765	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.15249514924609E-5	0.0
18	43445730	C	T	18	45865765	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.980025128109688	0.97
18	43445731	A	C	18	45865766	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.28120611114111E-4	0.18
18	43445731	A	G	18	45865766	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.23474015716752E-5	0.018
18	43445731	A	T	18	45865766	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99892594787941	0.978
18	43445732	A	C	18	45865767	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.40731086919153E-4	0.032
18	43445732	A	G	18	45865767	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.65744143816899E-5	0.0
18	43445732	A	T	18	45865767	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.08052826829766E-4	0.038
18	43445733	A	C	18	45865768	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.64320173879534E-4	0.054
18	43445733	A	G	18	45865768	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.14910573405997E-5	0.002
18	43445733	A	T	18	45865768	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00135912131408216	0.052
18	43445734	A	C	18	45865769	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00723080449544378	0.206
18	43445734	A	G	18	45865769	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.69773423318418E-5	0.0
18	43445734	A	T	18	45865769	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.362569626815219	0.428
18	43445735	A	C	18	45865770	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0563205475451108	0.442
18	43445735	A	G	18	45865770	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.94741213341446E-5	0.07
18	43445735	A	T	18	45865770	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0793416365337676	0.436
18	43445736	A	C	18	45865771	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.11612290225119E-4	0.084
18	43445736	A	G	18	45865771	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.16285635533201E-5	0.0
18	43445736	A	T	18	45865771	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0143505737473305	0.236
18	43446755	C	A	18	45866790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.8630295445382E-4	0.006
18	43446755	C	G	18	45866790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.8630295445382E-4	0.006
18	43446755	C	T	18	45866790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.17846898225626E-4	0.004
18	43446756	A	C	18	45866791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.6534170685774E-4	0.02
18	43446756	A	G	18	45866791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.6220859754917E-4	0.016
18	43446756	A	T	18	45866791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.81945542164875E-5	0.0
18	43446757	A	C	18	45866792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.982274656221859	0.77
18	43446757	A	G	18	45866792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.985915451054078	0.866
18	43446757	A	T	18	45866792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.992612409098691	0.818
18	43446758	C	A	18	45866793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999973051612095	0.95
18	43446758	C	G	18	45866793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999988586403588	0.912
18	43446758	C	T	18	45866793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999974845011611	1.0
18	43446759	T	A	18	45866794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994969142272347	0.886
18	43446759	T	C	18	45866794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996454630694658	0.912
18	43446759	T	G	18	45866794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998461613475616	0.904
18	43446760	T	A	18	45866795	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999855586493751	0.938
18	43446760	T	C	18	45866795	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.135781552836043	0.332
18	43446760	T	G	18	45866795	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999754554567876	0.868
18	43446761	A	C	18	45866796	y	y	splicing	EPG5(NM_020964:exon39:c.6621+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6621+2T>G;ENST00000590854:exon3:c.398+2T>G;ENST00000587884:exon23:c.3372+2T>G;ENST00000590884:exon20:c.2907+2T>G;ENST00000592272:exon21:c.3139+2T>G)	.	.	0.999988247793601	0.93
18	43446761	A	G	18	45866796	y	y	splicing	EPG5(NM_020964:exon39:c.6621+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6621+2T>C;ENST00000590854:exon3:c.398+2T>C;ENST00000587884:exon23:c.3372+2T>C;ENST00000590884:exon20:c.2907+2T>C;ENST00000592272:exon21:c.3139+2T>C)	.	.	0.996388929962285	0.686
18	43446761	A	T	18	45866796	y	y	splicing	EPG5(NM_020964:exon39:c.6621+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6621+2T>A;ENST00000590854:exon3:c.398+2T>A;ENST00000587884:exon23:c.3372+2T>A;ENST00000590884:exon20:c.2907+2T>A;ENST00000592272:exon21:c.3139+2T>A)	.	.	0.999988247793601	0.93
18	43446762	C	A	18	45866797	y	y	splicing	EPG5(NM_020964:exon39:c.6621+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6621+1G>T;ENST00000590854:exon3:c.398+1G>T;ENST00000587884:exon23:c.3372+1G>T;ENST00000590884:exon20:c.2907+1G>T;ENST00000592272:exon21:c.3139+1G>T)	.	.	0.999990361384395	0.938
18	43446762	C	G	18	45866797	y	y	splicing	EPG5(NM_020964:exon39:c.6621+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6621+1G>C;ENST00000590854:exon3:c.398+1G>C;ENST00000587884:exon23:c.3372+1G>C;ENST00000590884:exon20:c.2907+1G>C;ENST00000592272:exon21:c.3139+1G>C)	.	.	0.999990361384395	0.938
18	43446762	C	T	18	45866797	y	y	splicing	EPG5(NM_020964:exon39:c.6621+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6621+1G>A;ENST00000590854:exon3:c.398+1G>A;ENST00000587884:exon23:c.3372+1G>A;ENST00000590884:exon20:c.2907+1G>A;ENST00000592272:exon21:c.3139+1G>A)	.	.	0.999990361384395	0.938
18	43446763	A	C	18	45866798	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon38:c.T6621G:p.L2207L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.T6621G:p.L2207L;	3.89965735536445E-5	0.004
18	43446763	A	G	18	45866798	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon38:c.T6621C:p.L2207L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.T6621C:p.L2207L;	7.06977427452436E-5	0.016
18	43446763	A	T	18	45866798	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon38:c.T6621A:p.L2207L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.T6621A:p.L2207L;	1.74912493860585E-5	0.006
18	43446764	A	C	18	45866799	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.T6620G:p.L2207R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.T6620G:p.L2207R;	0.00124083030442073	0.064
18	43446764	A	G	18	45866799	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.T6620C:p.L2207P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.T6620C:p.L2207P;	0.00229997638909994	0.084
18	43446764	A	T	18	45866799	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.T6620A:p.L2207H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.T6620A:p.L2207H;	4.94018587896129E-4	0.2
18	43446765	G	A	18	45866800	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.C6619T:p.L2207F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.C6619T:p.L2207F;	0.0224217968303048	0.318
18	43446765	G	C	18	45866800	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.C6619G:p.L2207V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.C6619G:p.L2207V;	2.91020175174234E-4	0.084
18	43446765	G	T	18	45866800	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.C6619A:p.L2207I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.C6619A:p.L2207I;	1.59790691181487E-4	0.062
18	43446971	T	A	18	45867006	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.A6413T:p.D2138V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.A6413T:p.D2138V;	0.642642225973287	0.726
18	43446971	T	C	18	45867006	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.A6413G:p.D2138G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.A6413G:p.D2138G;	0.01208136296243	0.04
18	43446971	T	G	18	45867006	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.A6413C:p.D2138A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.A6413C:p.D2138A;	0.0151790141603943	0.178
18	43446972	C	A	18	45867007	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.G6412T:p.D2138Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.G6412T:p.D2138Y;	0.999869892993124	0.998
18	43446972	C	G	18	45867007	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.G6412C:p.D2138H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.G6412C:p.D2138H;	0.999667267295963	0.974
18	43446972	C	T	18	45867007	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon38:c.G6412A:p.D2138N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon38:c.G6412A:p.D2138N;	0.997822973437086	0.766
18	43446973	C	A	18	45867008	y	y	splicing	EPG5(NM_020964:exon39:c.6412-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6412-1G>T;ENST00000590854:exon3:c.189-1G>T;ENST00000587884:exon23:c.3163-1G>T;ENST00000590884:exon20:c.2698-1G>T;ENST00000592272:exon21:c.2930-1G>T)	.	.	0.999987124402133	0.938
18	43446973	C	G	18	45867008	y	y	splicing	EPG5(NM_020964:exon39:c.6412-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6412-1G>C;ENST00000590854:exon3:c.189-1G>C;ENST00000587884:exon23:c.3163-1G>C;ENST00000590884:exon20:c.2698-1G>C;ENST00000592272:exon21:c.2930-1G>C)	.	.	0.999987124402133	0.938
18	43446973	C	T	18	45867008	y	y	splicing	EPG5(NM_020964:exon39:c.6412-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6412-1G>A;ENST00000590854:exon3:c.189-1G>A;ENST00000587884:exon23:c.3163-1G>A;ENST00000590884:exon20:c.2698-1G>A;ENST00000592272:exon21:c.2930-1G>A)	.	.	0.999987124402133	0.938
18	43446974	T	A	18	45867009	y	y	splicing	EPG5(NM_020964:exon39:c.6412-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6412-2A>T;ENST00000590854:exon3:c.189-2A>T;ENST00000587884:exon23:c.3163-2A>T;ENST00000590884:exon20:c.2698-2A>T;ENST00000592272:exon21:c.2930-2A>T)	.	.	0.999986607513753	0.916
18	43446974	T	C	18	45867009	y	y	splicing	EPG5(NM_020964:exon39:c.6412-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6412-2A>G;ENST00000590854:exon3:c.189-2A>G;ENST00000587884:exon23:c.3163-2A>G;ENST00000590884:exon20:c.2698-2A>G;ENST00000592272:exon21:c.2930-2A>G)	.	.	0.999986607513753	0.916
18	43446974	T	G	18	45867009	y	y	splicing	EPG5(NM_020964:exon39:c.6412-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon39:c.6412-2A>C;ENST00000590854:exon3:c.189-2A>C;ENST00000587884:exon23:c.3163-2A>C;ENST00000590884:exon20:c.2698-2A>C;ENST00000592272:exon21:c.2930-2A>C)	.	.	0.999986607513753	0.916
18	43446975	A	C	18	45867010	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.668652566117069	0.612
18	43446975	A	G	18	45867010	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.33130565513485E-5	0.01
18	43446975	A	T	18	45867010	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00376776869626169	0.158
18	43446976	A	C	18	45867011	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.29214189114089E-4	0.012
18	43446976	A	G	18	45867011	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.21443966461598E-4	0.006
18	43446976	A	T	18	45867011	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.28791637060849E-4	0.016
18	43446977	A	C	18	45867012	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.980711446779349	0.828
18	43446977	A	G	18	45867012	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0152485021795093	0.204
18	43446977	A	T	18	45867012	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.969953776828326	0.802
18	43446978	A	C	18	45867013	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.238904429197686	0.558
18	43446978	A	G	18	45867013	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.28500740171613E-5	0.002
18	43446978	A	T	18	45867013	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0822094080627409	0.472
18	43446979	A	C	18	45867014	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999349634418543	0.988
18	43446979	A	G	18	45867014	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.99412979640362E-5	0.006
18	43446979	A	T	18	45867014	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00430303908227225	0.086
18	43446980	T	A	18	45867015	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.27621412549234E-4	0.002
18	43446980	T	C	18	45867015	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.02638305472595E-4	0.026
18	43446980	T	G	18	45867015	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.26857412242559E-4	0.052
18	43446981	A	C	18	45867016	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0040566827681022	0.214
18	43446981	A	G	18	45867016	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.44422234711293E-5	0.024
18	43446981	A	T	18	45867016	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0063171356870187	0.184
18	43446982	A	C	18	45867017	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.239055309940432	0.42
18	43446982	A	G	18	45867017	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.65801907666354E-5	0.02
18	43446982	A	T	18	45867017	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.369073314263927	0.44
18	43446983	A	C	18	45867018	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.843621270422003	0.562
18	43446983	A	G	18	45867018	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0704959192056564	0.116
18	43446983	A	T	18	45867018	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.977472056581285	0.736
18	43446984	A	C	18	45867019	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.221529558434037	0.462
18	43446984	A	G	18	45867019	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.61421101819191E-5	0.03
18	43446984	A	T	18	45867019	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.353837816295181	0.46
18	43447520	A	C	18	45867555	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.33306724291177E-5	0.0
18	43447520	A	G	18	45867555	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.8575880099926E-5	0.0
18	43447520	A	T	18	45867555	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.11994965294305E-4	0.0
18	43447521	A	C	18	45867556	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.77497039365624E-5	0.0
18	43447521	A	G	18	45867556	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.77497039365624E-5	0.0
18	43447521	A	T	18	45867556	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.33935808451361E-5	0.0
18	43447522	A	C	18	45867557	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994217653798751	0.77
18	43447522	A	G	18	45867557	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.848859575845827	0.692
18	43447522	A	T	18	45867557	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.975876607515727	0.582
18	43447523	C	A	18	45867558	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999991278360202	0.986
18	43447523	C	G	18	45867558	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999991278360202	0.968
18	43447523	C	T	18	45867558	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999976673146528	0.978
18	43447524	T	A	18	45867559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.90907172267894	0.606
18	43447524	T	C	18	45867559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.97107913671	0.782
18	43447524	T	G	18	45867559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.216792035688005	0.454
18	43447525	T	A	18	45867560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999512430489351	0.936
18	43447525	T	C	18	45867560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.03800237611886	0.276
18	43447525	T	G	18	45867560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99868494076065	0.888
18	43447526	A	C	18	45867561	y	y	splicing	EPG5(NM_020964:exon38:c.6411+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon38:c.6411+2T>G;ENST00000590854:exon2:c.188+2T>G;ENST00000587884:exon22:c.3162+2T>G;ENST00000590884:exon19:c.2697+2T>G;ENST00000592272:exon20:c.2929+2T>G)	.	.	0.999988247793601	0.928
18	43447526	A	G	18	45867561	y	y	splicing	EPG5(NM_020964:exon38:c.6411+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon38:c.6411+2T>C;ENST00000590854:exon2:c.188+2T>C;ENST00000587884:exon22:c.3162+2T>C;ENST00000590884:exon19:c.2697+2T>C;ENST00000592272:exon20:c.2929+2T>C)	.	.	0.994731650058242	0.704
18	43447526	A	T	18	45867561	y	y	splicing	EPG5(NM_020964:exon38:c.6411+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon38:c.6411+2T>A;ENST00000590854:exon2:c.188+2T>A;ENST00000587884:exon22:c.3162+2T>A;ENST00000590884:exon19:c.2697+2T>A;ENST00000592272:exon20:c.2929+2T>A)	.	.	0.999988247793601	0.928
18	43447527	C	A	18	45867562	y	y	splicing	EPG5(NM_020964:exon38:c.6411+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon38:c.6411+1G>T;ENST00000590854:exon2:c.188+1G>T;ENST00000587884:exon22:c.3162+1G>T;ENST00000590884:exon19:c.2697+1G>T;ENST00000592272:exon20:c.2929+1G>T)	.	.	0.999990361384395	0.936
18	43447527	C	G	18	45867562	y	y	splicing	EPG5(NM_020964:exon38:c.6411+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon38:c.6411+1G>C;ENST00000590854:exon2:c.188+1G>C;ENST00000587884:exon22:c.3162+1G>C;ENST00000590884:exon19:c.2697+1G>C;ENST00000592272:exon20:c.2929+1G>C)	.	.	0.999990361384395	0.936
18	43447527	C	T	18	45867562	y	y	splicing	EPG5(NM_020964:exon38:c.6411+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon38:c.6411+1G>A;ENST00000590854:exon2:c.188+1G>A;ENST00000587884:exon22:c.3162+1G>A;ENST00000590884:exon19:c.2697+1G>A;ENST00000592272:exon20:c.2929+1G>A)	.	.	0.999990361384395	0.936
18	43447528	T	A	18	45867563	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon37:c.A6411T:p.T2137T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.A6411T:p.T2137T;	4.78733405763954E-4	0.076
18	43447528	T	C	18	45867563	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon37:c.A6411G:p.T2137T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.A6411G:p.T2137T;	1.20022723604629E-4	0.05
18	43447528	T	G	18	45867563	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon37:c.A6411C:p.T2137T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.A6411C:p.T2137T;	1.33005849387247E-4	0.01
18	43447529	G	A	18	45867564	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.C6410T:p.T2137I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.C6410T:p.T2137I;	0.970893162782848	0.664
18	43447529	G	C	18	45867564	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.C6410G:p.T2137R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.C6410G:p.T2137R;	0.0101711916263608	0.132
18	43447529	G	T	18	45867564	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.C6410A:p.T2137K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.C6410A:p.T2137K;	0.00268513306074382	0.096
18	43447530	T	A	18	45867565	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.A6409T:p.T2137S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.A6409T:p.T2137S;	1.98833195483476E-4	0.076
18	43447530	T	C	18	45867565	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.A6409G:p.T2137A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.A6409G:p.T2137A;	3.59787671397467E-5	0.0
18	43447530	T	G	18	45867565	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.A6409C:p.T2137P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.A6409C:p.T2137P;	4.28554761269727E-5	0.064
18	43447712	A	C	18	45867747	y	n	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.T6227G:p.V2076G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.T6227G:p.V2076G;	0.280455550092979	0.582
18	43447712	A	G	18	45867747	y	n	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.T6227C:p.V2076A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.T6227C:p.V2076A;	0.260691682498344	0.606
18	43447712	A	T	18	45867747	y	n	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.T6227A:p.V2076E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.T6227A:p.V2076E;	0.280480814916136	0.61
18	43447713	C	A	18	45867748	y	n	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.G6226T:p.V2076L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.G6226T:p.V2076L;	0.908096450536296	0.8
18	43447713	C	G	18	45867748	y	n	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.G6226C:p.V2076L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.G6226C:p.V2076L;	0.856464064402403	0.728
18	43447713	C	T	18	45867748	y	n	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon37:c.G6226A:p.V2076M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon37:c.G6226A:p.V2076M;	0.750912681686096	0.446
18	43447714	C	A	18	45867749	y	n	splicing	EPG5(NM_020964:exon38:c.6226-1G>T)	.	.	exonic;splicing	ENSG00000152223;ENSG00000152223(ENST00000282041:exon38:c.6226-1G>T;ENST00000587884:exon22:c.2977-1G>T;ENST00000590884:exon19:c.2512-1G>T;ENST00000592272:exon20:c.2744-1G>T)	unknown	UNKNOWN	0.999990361384395	0.938
18	43447714	C	G	18	45867749	y	n	splicing	EPG5(NM_020964:exon38:c.6226-1G>C)	.	.	exonic;splicing	ENSG00000152223;ENSG00000152223(ENST00000282041:exon38:c.6226-1G>C;ENST00000587884:exon22:c.2977-1G>C;ENST00000590884:exon19:c.2512-1G>C;ENST00000592272:exon20:c.2744-1G>C)	unknown	UNKNOWN	0.999990361384395	0.936
18	43447714	C	T	18	45867749	y	n	splicing	EPG5(NM_020964:exon38:c.6226-1G>A)	.	.	exonic;splicing	ENSG00000152223;ENSG00000152223(ENST00000282041:exon38:c.6226-1G>A;ENST00000587884:exon22:c.2977-1G>A;ENST00000590884:exon19:c.2512-1G>A;ENST00000592272:exon20:c.2744-1G>A)	unknown	UNKNOWN	0.999990361384395	0.938
18	43447715	T	A	18	45867750	y	n	splicing	EPG5(NM_020964:exon38:c.6226-2A>T)	.	.	exonic;splicing	ENSG00000152223;ENSG00000152223(ENST00000282041:exon38:c.6226-2A>T;ENST00000587884:exon22:c.2977-2A>T;ENST00000590884:exon19:c.2512-2A>T;ENST00000592272:exon20:c.2744-2A>T)	unknown	UNKNOWN	0.999988247793601	0.928
18	43447715	T	C	18	45867750	y	n	splicing	EPG5(NM_020964:exon38:c.6226-2A>G)	.	.	exonic;splicing	ENSG00000152223;ENSG00000152223(ENST00000282041:exon38:c.6226-2A>G;ENST00000587884:exon22:c.2977-2A>G;ENST00000590884:exon19:c.2512-2A>G;ENST00000592272:exon20:c.2744-2A>G)	unknown	UNKNOWN	0.999988247793601	0.928
18	43447715	T	G	18	45867750	y	n	splicing	EPG5(NM_020964:exon38:c.6226-2A>C)	.	.	exonic;splicing	ENSG00000152223;ENSG00000152223(ENST00000282041:exon38:c.6226-2A>C;ENST00000587884:exon22:c.2977-2A>C;ENST00000590884:exon19:c.2512-2A>C;ENST00000592272:exon20:c.2744-2A>C)	unknown	UNKNOWN	0.999988247793601	0.928
18	43447716	A	C	18	45867751	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.174017179012098	0.394
18	43447716	A	G	18	45867751	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.08578249365746E-4	0.004
18	43447716	A	T	18	45867751	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.22093285192471E-4	0.058
18	43447717	A	C	18	45867752	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.3841379300154E-5	0.03
18	43447717	A	G	18	45867752	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.48241790460725E-5	0.004
18	43447717	A	T	18	45867752	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.62235090895331E-5	0.012
18	43447718	A	C	18	45867753	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0331329676037041	0.36
18	43447718	A	G	18	45867753	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0070503777751261	0.08
18	43447718	A	T	18	45867753	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0174947412527897	0.356
18	43447719	A	C	18	45867754	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0032379442021622	0.13
18	43447719	A	G	18	45867754	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.21757373359915E-4	0.002
18	43447719	A	T	18	45867754	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00206940078462533	0.098
18	43447720	G	A	18	45867755	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.91062195570004E-5	0.0
18	43447720	G	C	18	45867755	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.23241709284662E-5	0.05
18	43447720	G	T	18	45867755	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.92051619200247E-4	0.03
18	43447721	A	C	18	45867756	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.60133496227262E-4	0.024
18	43447721	A	G	18	45867756	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.47222485778158E-5	0.016
18	43447721	A	T	18	45867756	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.32894861901936E-4	0.044
18	43447722	A	C	18	45867757	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.44716888576451E-4	0.214
18	43447722	A	G	18	45867757	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.34734331864732E-4	0.01
18	43447722	A	T	18	45867757	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.75479576116068E-4	0.186
18	43447723	A	C	18	45867758	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00770089583954747	0.208
18	43447723	A	G	18	45867758	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00130147972684693	0.054
18	43447723	A	T	18	45867758	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0153322348774788	0.164
18	43447724	A	C	18	45867759	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997173790493465	0.888
18	43447724	A	G	18	45867759	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.24001265985036E-4	0.06
18	43447724	A	T	18	45867759	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.47087189423057E-4	0.192
18	43447725	T	A	18	45867760	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.25279927330413E-5	0.0
18	43447725	T	C	18	45867760	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.35006212123322E-5	0.02
18	43447725	T	G	18	45867760	y	n	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.48064695835003E-6	0.0
18	43450524	G	A	18	45870559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.27082632424126E-5	0.0
18	43450524	G	C	18	45870559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.8302258892404E-5	0.0
18	43450524	G	T	18	45870559	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.11765153482118E-5	0.0
18	43450525	G	A	18	45870560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.20709411445339E-4	0.012
18	43450525	G	C	18	45870560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.60922414073675E-4	0.01
18	43450525	G	T	18	45870560	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.14338229749281E-4	0.004
18	43450526	G	A	18	45870561	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.42116726388114E-4	0.03
18	43450526	G	C	18	45870561	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.01401073872571E-4	0.028
18	43450526	G	T	18	45870561	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.29556112277195E-4	0.03
18	43450527	C	A	18	45870562	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999969659071999	0.938
18	43450527	C	G	18	45870562	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999611424735724	0.922
18	43450527	C	T	18	45870562	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999958139690908	0.928
18	43450528	T	A	18	45870563	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.985108636713846	0.644
18	43450528	T	C	18	45870563	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.971913499344252	0.704
18	43450528	T	G	18	45870563	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.871939258191442	0.438
18	43450529	T	A	18	45870564	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.982142743877116	0.682
18	43450529	T	C	18	45870564	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00112608164464224	0.124
18	43450529	T	G	18	45870564	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.977765867326991	0.674
18	43450530	A	C	18	45870565	y	y	splicing	EPG5(NM_020964:exon37:c.6225+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6225+2T>G;ENST00000587884:exon21:c.2976+2T>G;ENST00000592272:exon19:c.2743+2T>G)	.	.	0.999988247793601	0.932
18	43450530	A	G	18	45870565	y	y	splicing	EPG5(NM_020964:exon37:c.6225+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6225+2T>C;ENST00000587884:exon21:c.2976+2T>C;ENST00000592272:exon19:c.2743+2T>C)	.	.	0.996388929962285	0.696
18	43450530	A	T	18	45870565	y	y	splicing	EPG5(NM_020964:exon37:c.6225+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6225+2T>A;ENST00000587884:exon21:c.2976+2T>A;ENST00000592272:exon19:c.2743+2T>A)	.	.	0.999988247793601	0.932
18	43450531	C	A	18	45870566	y	y	splicing	EPG5(NM_020964:exon37:c.6225+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6225+1G>T;ENST00000587884:exon21:c.2976+1G>T;ENST00000592272:exon19:c.2743+1G>T)	.	.	0.999990361384395	0.938
18	43450531	C	G	18	45870566	y	y	splicing	EPG5(NM_020964:exon37:c.6225+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6225+1G>C;ENST00000587884:exon21:c.2976+1G>C;ENST00000592272:exon19:c.2743+1G>C)	.	.	0.999990361384395	0.938
18	43450531	C	T	18	45870566	y	y	splicing	EPG5(NM_020964:exon37:c.6225+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6225+1G>A;ENST00000587884:exon21:c.2976+1G>A;ENST00000592272:exon19:c.2743+1G>A)	.	.	0.999990361384395	0.938
18	43450532	T	A	18	45870567	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6225T:p.K2075N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6225T:p.K2075N;	6.07449547735156E-4	0.142
18	43450532	T	C	18	45870567	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon36:c.A6225G:p.K2075K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6225G:p.K2075K;	2.75460820914528E-4	0.138
18	43450532	T	G	18	45870567	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6225C:p.K2075N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6225C:p.K2075N;	1.28741254547735E-4	0.042
18	43450533	T	A	18	45870568	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6224T:p.K2075I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6224T:p.K2075I;	0.96667455632768	0.746
18	43450533	T	C	18	45870568	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6224G:p.K2075R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6224G:p.K2075R;	0.762999790484123	0.698
18	43450533	T	G	18	45870568	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6224C:p.K2075T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6224C:p.K2075T;	0.956684080909287	0.768
18	43450534	T	A	18	45870569	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon36:c.A6223T:p.K2075X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon36:c.A6223T:p.K2075X;	0.99715437572762	0.81
18	43450534	T	C	18	45870569	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6223G:p.K2075E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6223G:p.K2075E;	0.605844514340634	0.582
18	43450534	T	G	18	45870569	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6223C:p.K2075Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6223C:p.K2075Q;	0.936058688098397	0.842
18	43450706	A	C	18	45870741	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.T6051G:p.D2017E;	exonic	ENSG00000152223	stoploss SNV	ENSG00000152223:ENST00000592272:exon18:c.T2569G:p.X857E;	3.1284526923077E-5	0.006
18	43450706	A	G	18	45870741	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon36:c.T6051C:p.D2017D;	exonic	ENSG00000152223	stoploss SNV	ENSG00000152223:ENST00000592272:exon18:c.T2569C:p.X857Q;	4.67033033143961E-5	0.006
18	43450706	A	T	18	45870741	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.T6051A:p.D2017E;	exonic	ENSG00000152223	stoploss SNV	ENSG00000152223:ENST00000592272:exon18:c.T2569A:p.X857K;	3.34250925381983E-5	0.008
18	43450707	T	A	18	45870742	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6050T:p.D2017V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon18:c.A2568T:p.R856S;ENSG00000152223:ENST00000282041:exon36:c.A6050T:p.D2017V;	6.93474752768903E-4	0.02
18	43450707	T	C	18	45870742	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6050G:p.D2017G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon36:c.A6050G:p.D2017G;	1.38058675259654E-5	0.0
18	43450707	T	G	18	45870742	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon36:c.A6050C:p.D2017A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon18:c.A2568C:p.R856S;ENSG00000152223:ENST00000282041:exon36:c.A6050C:p.D2017A;	2.50704018172691E-4	0.02
18	43450708	C	A	18	45870743	y	y	splicing	EPG5(NM_020964:exon37:c.6050-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6050-1G>T;ENST00000587884:exon21:c.2801-1G>T;ENST00000592272:exon19:c.2568-1G>T)	.	.	0.999982737877662	0.936
18	43450708	C	G	18	45870743	y	y	splicing	EPG5(NM_020964:exon37:c.6050-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6050-1G>C;ENST00000587884:exon21:c.2801-1G>C;ENST00000592272:exon19:c.2568-1G>C)	.	.	0.999982737877662	0.938
18	43450708	C	T	18	45870743	y	y	splicing	EPG5(NM_020964:exon37:c.6050-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6050-1G>A;ENST00000587884:exon21:c.2801-1G>A;ENST00000592272:exon19:c.2568-1G>A)	.	.	0.999990361384395	0.938
18	43450709	T	A	18	45870744	y	y	splicing	EPG5(NM_020964:exon37:c.6050-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6050-2A>T;ENST00000587884:exon21:c.2801-2A>T;ENST00000592272:exon19:c.2568-2A>T)	.	.	0.99994568797423	0.928
18	43450709	T	C	18	45870744	y	y	splicing	EPG5(NM_020964:exon37:c.6050-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6050-2A>G;ENST00000587884:exon21:c.2801-2A>G;ENST00000592272:exon19:c.2568-2A>G)	.	.	0.99994568797423	0.932
18	43450709	T	G	18	45870744	y	y	splicing	EPG5(NM_020964:exon37:c.6050-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon37:c.6050-2A>C;ENST00000587884:exon21:c.2801-2A>C;ENST00000592272:exon19:c.2568-2A>C)	.	.	0.99994568797423	0.932
18	43450710	A	C	18	45870745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.985573197942337	0.672
18	43450710	A	G	18	45870745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.78770329900666E-5	0.014
18	43450710	A	T	18	45870745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.259802959167653	0.298
18	43450711	G	A	18	45870746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.36207284291599E-5	0.008
18	43450711	G	C	18	45870746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.58871940040255E-5	0.0
18	43450711	G	T	18	45870746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.24883464197423E-5	0.0
18	43450712	A	C	18	45870747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.374891590331286	0.49
18	43450712	A	G	18	45870747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00117650869274175	0.058
18	43450712	A	T	18	45870747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.681824788366497	0.52
18	43450713	A	C	18	45870748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999849714699026	0.946
18	43450713	A	G	18	45870748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.46861672523084E-4	0.058
18	43450713	A	T	18	45870748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.632715979589002	0.462
18	43450714	T	A	18	45870749	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.06730753181685E-5	0.0
18	43450714	T	C	18	45870749	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.10192977226083E-5	0.0
18	43450714	T	G	18	45870749	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.46971175798192E-5	0.008
18	43450715	G	A	18	45870750	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.64075701944391E-5	0.0
18	43450715	G	C	18	45870750	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.986625382698538	0.956
18	43450715	G	T	18	45870750	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.04982647774305E-5	0.024
18	43450716	T	A	18	45870751	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.03272425293411E-5	0.004
18	43450716	T	C	18	45870751	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.42667640437471E-5	0.002
18	43450716	T	G	18	45870751	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.65033855432448E-6	0.002
18	43450717	G	A	18	45870752	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.1019426392396E-5	0.0
18	43450717	G	C	18	45870752	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00167654730125086	0.02
18	43450717	G	T	18	45870752	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.76695942124504E-5	0.014
18	43450718	A	C	18	45870753	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0795322309789171	0.396
18	43450718	A	G	18	45870753	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.72211323159012E-4	0.034
18	43450718	A	T	18	45870753	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.196373575191672	0.434
18	43450719	A	C	18	45870754	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.011673483125505	0.278
18	43450719	A	G	18	45870754	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.66991083399131E-5	0.002
18	43450719	A	T	18	45870754	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00517178281545462	0.234
18	43456193	C	A	18	45876228	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.15719697925886E-4	0.022
18	43456193	C	G	18	45876228	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.53176222185433E-4	0.01
18	43456193	C	T	18	45876228	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.09684430426455E-4	0.044
18	43456194	T	A	18	45876229	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.00106947490559E-4	0.008
18	43456194	T	C	18	45876229	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.86351849847316E-4	0.01
18	43456194	T	G	18	45876229	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.26276657518679E-4	0.014
18	43456195	T	A	18	45876230	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.81403074654515E-4	0.006
18	43456195	T	C	18	45876230	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.62686978253514E-4	0.016
18	43456195	T	G	18	45876230	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0017613846702868	0.104
18	43456196	C	A	18	45876231	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999445832406581	0.918
18	43456196	C	G	18	45876231	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.991396472435985	0.904
18	43456196	C	T	18	45876231	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.938430326314015	0.81
18	43456197	C	A	18	45876232	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.84316623575405E-5	0.026
18	43456197	C	G	18	45876232	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.48073229932301E-5	0.014
18	43456197	C	T	18	45876232	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.39371688169924E-4	0.024
18	43456198	T	A	18	45876233	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994300530455753	0.832
18	43456198	T	C	18	45876233	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.936790576347672	0.752
18	43456198	T	G	18	45876233	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996130096208767	0.872
18	43456199	A	C	18	45876234	y	y	splicing	EPG5(NM_020964:exon36:c.6049+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.6049+2T>G;ENST00000587884:exon20:c.2800+2T>G)	.	.	0.999988247793601	0.93
18	43456199	A	G	18	45876234	y	y	splicing	EPG5(NM_020964:exon36:c.6049+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.6049+2T>C;ENST00000587884:exon20:c.2800+2T>C)	.	.	0.996388929962285	0.71
18	43456199	A	T	18	45876234	y	y	splicing	EPG5(NM_020964:exon36:c.6049+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.6049+2T>A;ENST00000587884:exon20:c.2800+2T>A)	.	.	0.999988247793601	0.93
18	43456200	C	A	18	45876235	y	y	splicing	EPG5(NM_020964:exon36:c.6049+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.6049+1G>T;ENST00000587884:exon20:c.2800+1G>T)	.	.	0.999990361384395	0.938
18	43456200	C	G	18	45876235	y	y	splicing	EPG5(NM_020964:exon36:c.6049+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.6049+1G>C;ENST00000587884:exon20:c.2800+1G>C)	.	.	0.999990361384395	0.938
18	43456200	C	T	18	45876235	y	y	splicing	EPG5(NM_020964:exon36:c.6049+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.6049+1G>A;ENST00000587884:exon20:c.2800+1G>A)	.	.	0.999990361384395	0.938
18	43456201	C	A	18	45876236	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.G6049T:p.D2017Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.G6049T:p.D2017Y;	0.999991239447877	0.994
18	43456201	C	G	18	45876236	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.G6049C:p.D2017H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.G6049C:p.D2017H;	0.999994609999027	0.998
18	43456201	C	T	18	45876236	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.G6049A:p.D2017N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.G6049A:p.D2017N;	0.99998788615479	0.996
18	43456202	T	A	18	45876237	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.A6048T:p.K2016N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A6048T:p.K2016N;	0.999689262090221	0.98
18	43456202	T	C	18	45876237	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon35:c.A6048G:p.K2016K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A6048G:p.K2016K;	0.986724999854728	0.846
18	43456202	T	G	18	45876237	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.A6048C:p.K2016N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A6048C:p.K2016N;	0.999220487553634	0.968
18	43456203	T	A	18	45876238	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.A6047T:p.K2016I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A6047T:p.K2016I;	0.995542705850873	0.726
18	43456203	T	C	18	45876238	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.A6047G:p.K2016R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A6047G:p.K2016R;	0.00509533368525293	0.178
18	43456203	T	G	18	45876238	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.A6047C:p.K2016T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A6047C:p.K2016T;	0.17167319346416	0.42
18	43456306	T	A	18	45876341	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.A5944T:p.S1982C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A5944T:p.S1982C;	5.57953388132687E-4	0.086
18	43456306	T	C	18	45876341	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.A5944G:p.S1982G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A5944G:p.S1982G;	4.50379476757643E-5	0.01
18	43456306	T	G	18	45876341	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.A5944C:p.S1982R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.A5944C:p.S1982R;	1.38305930355527E-4	0.01
18	43456307	G	A	18	45876342	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon35:c.C5943T:p.S1981S;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.C5943T:p.S1981S;	0.0010863760035359	0.05
18	43456307	G	C	18	45876342	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.C5943G:p.S1981R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.C5943G:p.S1981R;	4.90658850062227E-5	0.144
18	43456307	G	T	18	45876342	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon35:c.C5943A:p.S1981R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon35:c.C5943A:p.S1981R;	2.44427272433447E-5	0.002
18	43456308	C	A	18	45876343	y	y	splicing	EPG5(NM_020964:exon36:c.5943-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.5943-1G>T;ENST00000587884:exon20:c.2694-1G>T)	.	.	0.999987223644865	0.91
18	43456308	C	G	18	45876343	y	y	splicing	EPG5(NM_020964:exon36:c.5943-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.5943-1G>C;ENST00000587884:exon20:c.2694-1G>C)	.	.	0.999987223644865	0.908
18	43456308	C	T	18	45876343	y	y	splicing	EPG5(NM_020964:exon36:c.5943-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.5943-1G>A;ENST00000587884:exon20:c.2694-1G>A)	.	.	0.999978599528481	0.898
18	43456309	T	A	18	45876344	y	y	splicing	EPG5(NM_020964:exon36:c.5943-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.5943-2A>T;ENST00000587884:exon20:c.2694-2A>T)	.	.	0.99993872479901	0.958
18	43456309	T	C	18	45876344	y	y	splicing	EPG5(NM_020964:exon36:c.5943-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.5943-2A>G;ENST00000587884:exon20:c.2694-2A>G)	.	.	0.99993928974862	0.962
18	43456309	T	G	18	45876344	y	y	splicing	EPG5(NM_020964:exon36:c.5943-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon36:c.5943-2A>C;ENST00000587884:exon20:c.2694-2A>C)	.	.	0.99993928974862	0.96
18	43456310	T	A	18	45876345	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.39935267629648E-4	0.008
18	43456310	T	C	18	45876345	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0862367281629091	0.304
18	43456310	T	G	18	45876345	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.0622294492695E-4	0.104
18	43456311	T	A	18	45876346	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.3634790546768E-5	0.006
18	43456311	T	C	18	45876346	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.27602053648792E-5	0.06
18	43456311	T	G	18	45876346	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.03030023862889E-5	0.038
18	43456312	A	C	18	45876347	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00474711758271594	0.218
18	43456312	A	G	18	45876347	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0011825371215626	0.07
18	43456312	A	T	18	45876347	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.54046121405133E-4	0.186
18	43456313	A	C	18	45876348	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00150264742027239	0.122
18	43456313	A	G	18	45876348	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.02201922231167E-4	0.024
18	43456313	A	T	18	45876348	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00195181162044911	0.102
18	43456314	A	C	18	45876349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.30829856801358E-4	0.08
18	43456314	A	G	18	45876349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.36658412624446E-5	0.112
18	43456314	A	T	18	45876349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00156707671902387	0.082
18	43456315	G	A	18	45876350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.72932707569332E-5	0.002
18	43456315	G	C	18	45876350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.7166329938093E-4	0.114
18	43456315	G	T	18	45876350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.81383309467962E-4	0.102
18	43456316	A	C	18	45876351	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.80678776413313E-4	0.068
18	43456316	A	G	18	45876351	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.39571214590462E-4	0.02
18	43456316	A	T	18	45876351	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.43377520778152E-4	0.082
18	43456317	A	C	18	45876352	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00188296207481948	0.202
18	43456317	A	G	18	45876352	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.5140716214857E-4	0.084
18	43456317	A	T	18	45876352	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00318176923525804	0.192
18	43456318	A	C	18	45876353	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.52775760367445E-4	0.154
18	43456318	A	G	18	45876353	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.33290269955633E-4	0.012
18	43456318	A	T	18	45876353	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.4849352142926E-4	0.132
18	43456319	A	C	18	45876354	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.94408337960171E-4	0.088
18	43456319	A	G	18	45876354	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.79363352010892E-4	0.036
18	43456319	A	T	18	45876354	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.96549076465511E-4	0.114
18	43458333	C	A	18	45878368	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.10754251582927E-5	0.0
18	43458333	C	G	18	45878368	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.10754251582927E-5	0.0
18	43458333	C	T	18	45878368	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.10754251582927E-5	0.0
18	43458334	T	A	18	45878369	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.88427951210202E-5	0.036
18	43458334	T	C	18	45878369	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.71349520270792E-5	0.0
18	43458334	T	G	18	45878369	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.30691927753517E-5	0.0
18	43458335	G	A	18	45878370	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.58993407667567E-5	0.0
18	43458335	G	C	18	45878370	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.12621228861355E-5	0.008
18	43458335	G	T	18	45878370	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.09054563919391E-4	0.002
18	43458336	T	A	18	45878371	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00147095971790177	0.054
18	43458336	T	C	18	45878371	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.39112542351564E-4	0.03
18	43458336	T	G	18	45878371	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.10556715807507E-4	0.062
18	43458337	T	A	18	45878372	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.471028392465862	0.422
18	43458337	T	C	18	45878372	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.618056280586293	0.42
18	43458337	T	G	18	45878372	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.424598815705497	0.364
18	43458338	T	A	18	45878373	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999771724235772	0.924
18	43458338	T	C	18	45878373	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.993538829649479	0.904
18	43458338	T	G	18	45878373	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999905843482045	0.962
18	43458339	A	C	18	45878374	y	y	splicing	EPG5(NM_020964:exon35:c.5942+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5942+2T>G;ENST00000587884:exon19:c.2693+2T>G;ENST00000590884:exon18:c.2511+2T>G;ENST00000592272:exon18:c.2567+2T>G)	.	.	0.999988247793601	0.93
18	43458339	A	G	18	45878374	y	y	splicing	EPG5(NM_020964:exon35:c.5942+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5942+2T>C;ENST00000587884:exon19:c.2693+2T>C;ENST00000590884:exon18:c.2511+2T>C;ENST00000592272:exon18:c.2567+2T>C)	.	.	0.995320650369382	0.69
18	43458339	A	T	18	45878374	y	y	splicing	EPG5(NM_020964:exon35:c.5942+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5942+2T>A;ENST00000587884:exon19:c.2693+2T>A;ENST00000590884:exon18:c.2511+2T>A;ENST00000592272:exon18:c.2567+2T>A)	.	.	0.999988247793601	0.93
18	43458340	C	A	18	45878375	y	y	splicing	EPG5(NM_020964:exon35:c.5942+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5942+1G>T;ENST00000587884:exon19:c.2693+1G>T;ENST00000590884:exon18:c.2511+1G>T;ENST00000592272:exon18:c.2567+1G>T)	.	.	0.999990361384395	0.938
18	43458340	C	G	18	45878375	y	y	splicing	EPG5(NM_020964:exon35:c.5942+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5942+1G>C;ENST00000587884:exon19:c.2693+1G>C;ENST00000590884:exon18:c.2511+1G>C;ENST00000592272:exon18:c.2567+1G>C)	.	.	0.999990361384395	0.938
18	43458340	C	T	18	45878375	y	y	splicing	EPG5(NM_020964:exon35:c.5942+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5942+1G>A;ENST00000587884:exon19:c.2693+1G>A;ENST00000590884:exon18:c.2511+1G>A;ENST00000592272:exon18:c.2567+1G>A)	.	.	0.999990361384395	0.938
18	43458341	C	A	18	45878376	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.G5942T:p.S1981I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.G2567T:p.R856I;ENSG00000152223:ENST00000282041:exon34:c.G5942T:p.S1981I;	0.999990103804354	0.948
18	43458341	C	G	18	45878376	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.G5942C:p.S1981T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.G2567C:p.R856T;ENSG00000152223:ENST00000282041:exon34:c.G5942C:p.S1981T;	0.999992222439521	0.96
18	43458341	C	T	18	45878376	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.G5942A:p.S1981N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.G2567A:p.R856K;ENSG00000152223:ENST00000282041:exon34:c.G5942A:p.S1981N;	0.999983801583644	0.998
18	43458342	T	A	18	45878377	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.A5941T:p.S1981C;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000592272:exon17:c.A2566T:p.R856X;	0.999733696164521	0.982
18	43458342	T	C	18	45878377	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.A5941G:p.S1981G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.A2566G:p.R856G;ENSG00000152223:ENST00000282041:exon34:c.A5941G:p.S1981G;	0.998210240257159	0.978
18	43458342	T	G	18	45878377	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.A5941C:p.S1981R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon34:c.A5941C:p.S1981R;	0.995666087935146	0.936
18	43458343	T	A	18	45878378	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.A5940T:p.E1980D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.A2565T:p.E855D;ENSG00000152223:ENST00000282041:exon34:c.A5940T:p.E1980D;	0.0648799589970655	0.36
18	43458343	T	C	18	45878378	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon34:c.A5940G:p.E1980E;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.A2565G:p.E855E;ENSG00000152223:ENST00000282041:exon34:c.A5940G:p.E1980E;	7.28541349934893E-4	0.014
18	43458343	T	G	18	45878378	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.A5940C:p.E1980D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.A2565C:p.E855D;ENSG00000152223:ENST00000282041:exon34:c.A5940C:p.E1980D;	2.10353932368048E-4	0.004
18	43458412	C	A	18	45878447	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon34:c.G5871T:p.V1957V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.G2496T:p.V832V;ENSG00000152223:ENST00000282041:exon34:c.G5871T:p.V1957V;	3.16933426121027E-4	0.044
18	43458412	C	G	18	45878447	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon34:c.G5871C:p.V1957V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.G2496C:p.V832V;ENSG00000152223:ENST00000282041:exon34:c.G5871C:p.V1957V;	2.68398543612173E-4	0.078
18	43458412	C	T	18	45878447	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon34:c.G5871A:p.V1957V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.G2496A:p.V832V;ENSG00000152223:ENST00000282041:exon34:c.G5871A:p.V1957V;	0.0011318070966799	0.2
18	43458413	A	C	18	45878448	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.T5870G:p.V1957G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.T2495G:p.V832G;ENSG00000152223:ENST00000282041:exon34:c.T5870G:p.V1957G;	0.00145020450618626	0.104
18	43458413	A	G	18	45878448	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.T5870C:p.V1957A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.T2495C:p.V832A;ENSG00000152223:ENST00000282041:exon34:c.T5870C:p.V1957A;	0.00211079169358038	0.114
18	43458413	A	T	18	45878448	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon34:c.T5870A:p.V1957E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon17:c.T2495A:p.V832E;ENSG00000152223:ENST00000282041:exon34:c.T5870A:p.V1957E;	2.6071826856861E-4	0.028
18	43458414	C	A	18	45878449	y	y	splicing	EPG5(NM_020964:exon35:c.5870-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5870-1G>T;ENST00000587884:exon19:c.2621-1G>T;ENST00000590884:exon18:c.2439-1G>T;ENST00000592272:exon18:c.2495-1G>T)	.	.	0.999949744469354	0.95
18	43458414	C	G	18	45878449	y	y	splicing	EPG5(NM_020964:exon35:c.5870-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5870-1G>C;ENST00000587884:exon19:c.2621-1G>C;ENST00000590884:exon18:c.2439-1G>C;ENST00000592272:exon18:c.2495-1G>C)	.	.	0.999950207824055	0.954
18	43458414	C	T	18	45878449	y	y	splicing	EPG5(NM_020964:exon35:c.5870-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5870-1G>A;ENST00000587884:exon19:c.2621-1G>A;ENST00000590884:exon18:c.2439-1G>A;ENST00000592272:exon18:c.2495-1G>A)	.	.	0.999949744469354	0.95
18	43458415	T	A	18	45878450	y	y	splicing	EPG5(NM_020964:exon35:c.5870-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5870-2A>T;ENST00000587884:exon19:c.2621-2A>T;ENST00000590884:exon18:c.2439-2A>T;ENST00000592272:exon18:c.2495-2A>T)	.	.	0.99993928974862	0.948
18	43458415	T	C	18	45878450	y	y	splicing	EPG5(NM_020964:exon35:c.5870-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5870-2A>G;ENST00000587884:exon19:c.2621-2A>G;ENST00000590884:exon18:c.2439-2A>G;ENST00000592272:exon18:c.2495-2A>G)	.	.	0.99993928974862	0.96
18	43458415	T	G	18	45878450	y	y	splicing	EPG5(NM_020964:exon35:c.5870-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon35:c.5870-2A>C;ENST00000587884:exon19:c.2621-2A>C;ENST00000590884:exon18:c.2439-2A>C;ENST00000592272:exon18:c.2495-2A>C)	.	.	0.99993928974862	0.962
18	43458416	A	C	18	45878451	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.895408719016323	0.56
18	43458416	A	G	18	45878451	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.3887032948192E-6	0.038
18	43458416	A	T	18	45878451	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00237244447100356	0.32
18	43458417	A	C	18	45878452	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0435152608304076	0.242
18	43458417	A	G	18	45878452	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00121468534795628	0.108
18	43458417	A	T	18	45878452	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00158745066960596	0.148
18	43458418	A	C	18	45878453	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.825447178598789	0.63
18	43458418	A	G	18	45878453	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.79987356355777E-4	0.146
18	43458418	A	T	18	45878453	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.902531012676943	0.604
18	43458419	A	C	18	45878454	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.24774901790674	0.58
18	43458419	A	G	18	45878454	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.34997257834644E-4	0.092
18	43458419	A	T	18	45878454	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.923488276699607	0.644
18	43458420	A	C	18	45878455	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00560175082486093	0.304
18	43458420	A	G	18	45878455	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.81861952361511E-4	0.038
18	43458420	A	T	18	45878455	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0165797620632417	0.196
18	43458421	G	A	18	45878456	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.29710546021364E-5	0.032
18	43458421	G	C	18	45878456	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.949540062382446	0.35
18	43458421	G	T	18	45878456	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.80312196381719E-4	0.216
18	43458422	T	A	18	45878457	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.13546972628595E-5	0.042
18	43458422	T	C	18	45878457	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.942601275674563	0.878
18	43458422	T	G	18	45878457	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.98501777021816E-5	0.0
18	43458423	T	A	18	45878458	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.01903598953791E-5	0.04
18	43458423	T	C	18	45878458	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994693985631054	0.894
18	43458423	T	G	18	45878458	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.16401692457836E-5	0.008
18	43458424	T	A	18	45878459	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.41472023115791E-4	0.08
18	43458424	T	C	18	45878459	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998790334830098	0.886
18	43458424	T	G	18	45878459	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.71532199850602E-4	0.032
18	43458425	T	A	18	45878460	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.05029681931234E-5	0.03
18	43458425	T	C	18	45878460	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.83573732431505E-5	0.02
18	43458425	T	G	18	45878460	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.63893490425848E-5	0.002
18	43458970	T	A	18	45879005	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.87052489475177E-5	0.0
18	43458970	T	C	18	45879005	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.51232686611577E-5	0.0
18	43458970	T	G	18	45879005	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.91445667756971E-5	0.0
18	43458971	A	C	18	45879006	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.78389654127837E-5	0.0
18	43458971	A	G	18	45879006	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.78389654127837E-5	0.0
18	43458971	A	T	18	45879006	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.78389654127837E-5	0.0
18	43458972	T	A	18	45879007	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.84275610127688E-5	0.0
18	43458972	T	C	18	45879007	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.28290758882424E-5	0.0
18	43458972	T	G	18	45879007	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.19925191276271E-4	0.052
18	43458973	A	C	18	45879008	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.06281273346371E-4	0.044
18	43458973	A	G	18	45879008	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.08293267780883E-4	0.01
18	43458973	A	T	18	45879008	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.91857331462447E-4	0.004
18	43458974	T	A	18	45879009	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.243154713110106	0.426
18	43458974	T	C	18	45879009	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.43616126985425	0.476
18	43458974	T	G	18	45879009	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0554562920259825	0.316
18	43458975	T	A	18	45879010	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999381168018887	0.82
18	43458975	T	C	18	45879010	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.884999136166272	0.526
18	43458975	T	G	18	45879010	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995622057468463	0.806
18	43458976	A	C	18	45879011	y	y	splicing	EPG5(NM_020964:exon34:c.5869+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5869+2T>G;ENST00000587884:exon18:c.2620+2T>G;ENST00000590884:exon17:c.2438+2T>G;ENST00000592272:exon17:c.2494+2T>G)	.	.	0.999986903042585	0.924
18	43458976	A	G	18	45879011	y	y	splicing	EPG5(NM_020964:exon34:c.5869+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5869+2T>C;ENST00000587884:exon18:c.2620+2T>C;ENST00000590884:exon17:c.2438+2T>C;ENST00000592272:exon17:c.2494+2T>C)	.	.	0.990406353703364	0.642
18	43458976	A	T	18	45879011	y	y	splicing	EPG5(NM_020964:exon34:c.5869+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5869+2T>A;ENST00000587884:exon18:c.2620+2T>A;ENST00000590884:exon17:c.2438+2T>A;ENST00000592272:exon17:c.2494+2T>A)	.	.	0.999989917668626	0.926
18	43458977	C	A	18	45879012	y	y	splicing	EPG5(NM_020964:exon34:c.5869+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5869+1G>T;ENST00000587884:exon18:c.2620+1G>T;ENST00000590884:exon17:c.2438+1G>T;ENST00000592272:exon17:c.2494+1G>T)	.	.	0.999981760802075	0.938
18	43458977	C	G	18	45879012	y	y	splicing	EPG5(NM_020964:exon34:c.5869+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5869+1G>C;ENST00000587884:exon18:c.2620+1G>C;ENST00000590884:exon17:c.2438+1G>C;ENST00000592272:exon17:c.2494+1G>C)	.	.	0.999981760802075	0.938
18	43458977	C	T	18	45879012	y	y	splicing	EPG5(NM_020964:exon34:c.5869+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5869+1G>A;ENST00000587884:exon18:c.2620+1G>A;ENST00000590884:exon17:c.2438+1G>A;ENST00000592272:exon17:c.2494+1G>A)	.	.	0.999981760802075	0.938
18	43458978	C	A	18	45879013	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.G5869T:p.V1957L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.G2494T:p.V832L;ENSG00000152223:ENST00000282041:exon33:c.G5869T:p.V1957L;	0.999988525753449	0.964
18	43458978	C	G	18	45879013	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.G5869C:p.V1957L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.G2494C:p.V832L;ENSG00000152223:ENST00000282041:exon33:c.G5869C:p.V1957L;	0.999996622391549	0.996
18	43458978	C	T	18	45879013	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.G5869A:p.V1957M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.G2494A:p.V832M;ENSG00000152223:ENST00000282041:exon33:c.G5869A:p.V1957M;	0.999990794728237	1.0
18	43458979	T	A	18	45879014	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon33:c.A5868T:p.T1956T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.A2493T:p.T831T;ENSG00000152223:ENST00000282041:exon33:c.A5868T:p.T1956T;	0.994111113751819	0.728
18	43458979	T	C	18	45879014	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon33:c.A5868G:p.T1956T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.A2493G:p.T831T;ENSG00000152223:ENST00000282041:exon33:c.A5868G:p.T1956T;	0.83665228556819	0.624
18	43458979	T	G	18	45879014	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon33:c.A5868C:p.T1956T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.A2493C:p.T831T;ENSG00000152223:ENST00000282041:exon33:c.A5868C:p.T1956T;	0.941746575597549	0.7
18	43458980	G	A	18	45879015	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.C5867T:p.T1956I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.C2492T:p.T831I;ENSG00000152223:ENST00000282041:exon33:c.C5867T:p.T1956I;	0.0182505910649636	0.35
18	43458980	G	C	18	45879015	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.C5867G:p.T1956R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.C2492G:p.T831R;ENSG00000152223:ENST00000282041:exon33:c.C5867G:p.T1956R;	0.00107371635267694	0.032
18	43458980	G	T	18	45879015	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.C5867A:p.T1956K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.C2492A:p.T831K;ENSG00000152223:ENST00000282041:exon33:c.C5867A:p.T1956K;	6.55991351572341E-5	0.016
18	43459178	A	C	18	45879213	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.T5669G:p.V1890G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.T2294G:p.V765G;ENSG00000152223:ENST00000282041:exon33:c.T5669G:p.V1890G;	0.044752011502599	0.404
18	43459178	A	G	18	45879213	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.T5669C:p.V1890A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.T2294C:p.V765A;ENSG00000152223:ENST00000282041:exon33:c.T5669C:p.V1890A;	0.042671755366603	0.346
18	43459178	A	T	18	45879213	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.T5669A:p.V1890E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.T2294A:p.V765E;ENSG00000152223:ENST00000282041:exon33:c.T5669A:p.V1890E;	0.0253588601464246	0.358
18	43459179	C	A	18	45879214	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.G5668T:p.V1890L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.G2293T:p.V765L;ENSG00000152223:ENST00000282041:exon33:c.G5668T:p.V1890L;	0.99921715829694	0.996
18	43459179	C	G	18	45879214	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.G5668C:p.V1890L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.G2293C:p.V765L;ENSG00000152223:ENST00000282041:exon33:c.G5668C:p.V1890L;	0.99899135667788	0.982
18	43459179	C	T	18	45879214	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon33:c.G5668A:p.V1890I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon16:c.G2293A:p.V765I;ENSG00000152223:ENST00000282041:exon33:c.G5668A:p.V1890I;	0.994378919710426	0.822
18	43459180	C	A	18	45879215	y	y	splicing	EPG5(NM_020964:exon34:c.5668-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5668-1G>T;ENST00000587884:exon18:c.2419-1G>T;ENST00000590884:exon17:c.2237-1G>T;ENST00000592272:exon17:c.2293-1G>T)	.	.	0.999986675681007	0.918
18	43459180	C	G	18	45879215	y	y	splicing	EPG5(NM_020964:exon34:c.5668-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5668-1G>C;ENST00000587884:exon18:c.2419-1G>C;ENST00000590884:exon17:c.2237-1G>C;ENST00000592272:exon17:c.2293-1G>C)	.	.	0.999986675681007	0.93
18	43459180	C	T	18	45879215	y	y	splicing	EPG5(NM_020964:exon34:c.5668-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5668-1G>A;ENST00000587884:exon18:c.2419-1G>A;ENST00000590884:exon17:c.2237-1G>A;ENST00000592272:exon17:c.2293-1G>A)	.	.	0.999986675681007	0.932
18	43459181	T	A	18	45879216	y	y	splicing	EPG5(NM_020964:exon34:c.5668-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5668-2A>T;ENST00000587884:exon18:c.2419-2A>T;ENST00000590884:exon17:c.2237-2A>T;ENST00000592272:exon17:c.2293-2A>T)	.	.	0.999989917668626	0.924
18	43459181	T	C	18	45879216	y	y	splicing	EPG5(NM_020964:exon34:c.5668-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5668-2A>G;ENST00000587884:exon18:c.2419-2A>G;ENST00000590884:exon17:c.2237-2A>G;ENST00000592272:exon17:c.2293-2A>G)	.	.	0.999989917668626	0.924
18	43459181	T	G	18	45879216	y	y	splicing	EPG5(NM_020964:exon34:c.5668-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon34:c.5668-2A>C;ENST00000587884:exon18:c.2419-2A>C;ENST00000590884:exon17:c.2237-2A>C;ENST00000592272:exon17:c.2293-2A>C)	.	.	0.999989917668626	0.924
18	43459182	G	A	18	45879217	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.20103192092562E-4	0.012
18	43459182	G	C	18	45879217	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.990910618459982	0.772
18	43459182	G	T	18	45879217	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.380706655968691	0.426
18	43459183	G	A	18	45879218	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.82001172933162E-5	0.0
18	43459183	G	C	18	45879218	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.60963740852393E-5	0.0
18	43459183	G	T	18	45879218	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.82001172933162E-5	0.04
18	43459184	A	C	18	45879219	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0598929781439651	0.398
18	43459184	A	G	18	45879219	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00114888240204398	0.064
18	43459184	A	T	18	45879219	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0834664210031438	0.402
18	43459185	A	C	18	45879220	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.770658281390494	0.498
18	43459185	A	G	18	45879220	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.79416205485126E-4	0.04
18	43459185	A	T	18	45879220	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.637962579069509	0.46
18	43459186	G	A	18	45879221	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.52124832069987E-5	0.0
18	43459186	G	C	18	45879221	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.37723370457058E-4	0.04
18	43459186	G	T	18	45879221	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.36435061284238E-4	0.034
18	43459187	A	C	18	45879222	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0143201627473753	0.252
18	43459187	A	G	18	45879222	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.72064182852115E-4	0.052
18	43459187	A	T	18	45879222	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.390502909674644	0.324
18	43459188	G	A	18	45879223	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.05609737815548E-5	0.004
18	43459188	G	C	18	45879223	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.29144998309638E-4	0.022
18	43459188	G	T	18	45879223	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.53043630370803E-4	0.076
18	43459189	A	C	18	45879224	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.611062637300538	0.548
18	43459189	A	G	18	45879224	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0014883834428807	0.118
18	43459189	A	T	18	45879224	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.755234379385957	0.594
18	43459190	C	A	18	45879225	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.65047354028333E-5	0.0
18	43459190	C	G	18	45879225	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.83559129380614E-6	0.0
18	43459190	C	T	18	45879225	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.17440082676758E-5	0.006
18	43459191	A	C	18	45879226	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00538437034863513	0.062
18	43459191	A	G	18	45879226	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.68416345749733E-5	0.0
18	43459191	A	T	18	45879226	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999391507720795	0.964
18	43460032	C	A	18	45880067	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.79584687831258E-4	0.0
18	43460032	C	G	18	45880067	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.36829981521313E-4	0.004
18	43460032	C	T	18	45880067	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.79584687831258E-4	0.0
18	43460033	T	A	18	45880068	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.27087836549944E-4	0.028
18	43460033	T	C	18	45880068	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.59485608706361E-4	0.112
18	43460033	T	G	18	45880068	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.45925106563967E-4	0.004
18	43460034	A	C	18	45880069	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0065766279926051	0.106
18	43460034	A	G	18	45880069	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0186196867958469	0.166
18	43460034	A	T	18	45880069	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0531908957169242	0.222
18	43460035	C	A	18	45880070	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998049309804002	0.776
18	43460035	C	G	18	45880070	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996932123792627	0.838
18	43460035	C	T	18	45880070	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.992914410826245	0.728
18	43460036	A	C	18	45880071	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.67406192339805E-5	0.11
18	43460036	A	G	18	45880071	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.41151783015588E-4	0.096
18	43460036	A	T	18	45880071	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.63274015263335E-4	0.164
18	43460037	C	A	18	45880072	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00196434127578577	0.14
18	43460037	C	G	18	45880072	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00454373313672429	0.088
18	43460037	C	T	18	45880072	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.6677228531087E-4	0.132
18	43460038	A	C	18	45880073	y	y	splicing	EPG5(NM_020964:exon33:c.5667+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5667+2T>G;ENST00000587884:exon17:c.2418+2T>G;ENST00000590884:exon16:c.2236+2T>G;ENST00000592272:exon16:c.2292+2T>G)	.	.	0.999992446697775	0.928
18	43460038	A	G	18	45880073	y	y	splicing	EPG5(NM_020964:exon33:c.5667+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5667+2T>C;ENST00000587884:exon17:c.2418+2T>C;ENST00000590884:exon16:c.2236+2T>C;ENST00000592272:exon16:c.2292+2T>C)	.	.	0.999951700573546	0.866
18	43460038	A	T	18	45880073	y	y	splicing	EPG5(NM_020964:exon33:c.5667+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5667+2T>A;ENST00000587884:exon17:c.2418+2T>A;ENST00000590884:exon16:c.2236+2T>A;ENST00000592272:exon16:c.2292+2T>A)	.	.	0.999992446697775	0.93
18	43460039	C	A	18	45880074	y	y	splicing	EPG5(NM_020964:exon33:c.5667+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5667+1G>T;ENST00000587884:exon17:c.2418+1G>T;ENST00000590884:exon16:c.2236+1G>T;ENST00000592272:exon16:c.2292+1G>T)	.	.	0.999988247793601	0.924
18	43460039	C	G	18	45880074	y	y	splicing	EPG5(NM_020964:exon33:c.5667+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5667+1G>C;ENST00000587884:exon17:c.2418+1G>C;ENST00000590884:exon16:c.2236+1G>C;ENST00000592272:exon16:c.2292+1G>C)	.	.	0.999988247793601	0.924
18	43460039	C	T	18	45880074	y	y	splicing	EPG5(NM_020964:exon33:c.5667+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5667+1G>A;ENST00000587884:exon17:c.2418+1G>A;ENST00000590884:exon16:c.2236+1G>A;ENST00000592272:exon16:c.2292+1G>A)	.	.	0.999988247793601	0.924
18	43460040	C	A	18	45880075	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.G5667T:p.Q1889H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.G2292T:p.Q764H;ENSG00000152223:ENST00000282041:exon32:c.G5667T:p.Q1889H;	0.999981967674702	0.986
18	43460040	C	G	18	45880075	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.G5667C:p.Q1889H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.G2292C:p.Q764H;ENSG00000152223:ENST00000282041:exon32:c.G5667C:p.Q1889H;	0.999996089225011	0.994
18	43460040	C	T	18	45880075	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon32:c.G5667A:p.Q1889Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.G2292A:p.Q764Q;ENSG00000152223:ENST00000282041:exon32:c.G5667A:p.Q1889Q;	0.999621162751904	0.968
18	43460041	T	A	18	45880076	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.A5666T:p.Q1889L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.A2291T:p.Q764L;ENSG00000152223:ENST00000282041:exon32:c.A5666T:p.Q1889L;	0.999830766981537	1.0
18	43460041	T	C	18	45880076	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.A5666G:p.Q1889R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.A2291G:p.Q764R;ENSG00000152223:ENST00000282041:exon32:c.A5666G:p.Q1889R;	0.999812055028156	0.998
18	43460041	T	G	18	45880076	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.A5666C:p.Q1889P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.A2291C:p.Q764P;ENSG00000152223:ENST00000282041:exon32:c.A5666C:p.Q1889P;	0.996076229484337	0.942
18	43460042	G	A	18	45880077	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon32:c.C5665T:p.Q1889X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000592272:exon15:c.C2290T:p.Q764X;ENSG00000152223:ENST00000282041:exon32:c.C5665T:p.Q1889X;	0.997065441231512	0.83
18	43460042	G	C	18	45880077	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.C5665G:p.Q1889E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.C2290G:p.Q764E;ENSG00000152223:ENST00000282041:exon32:c.C5665G:p.Q1889E;	0.783405931363979	0.436
18	43460042	G	T	18	45880077	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.C5665A:p.Q1889K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.C2290A:p.Q764K;ENSG00000152223:ENST00000282041:exon32:c.C5665A:p.Q1889K;	0.754557154141887	0.654
18	43460187	G	A	18	45880222	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon32:c.C5520T:p.S1840S;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.C2145T:p.S715S;ENSG00000152223:ENST00000282041:exon32:c.C5520T:p.S1840S;	1.15737735472884E-5	0.002
18	43460187	G	C	18	45880222	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.C5520G:p.S1840R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.C2145G:p.S715R;ENSG00000152223:ENST00000282041:exon32:c.C5520G:p.S1840R;	6.05764654318539E-5	0.02
18	43460187	G	T	18	45880222	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.C5520A:p.S1840R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.C2145A:p.S715R;ENSG00000152223:ENST00000282041:exon32:c.C5520A:p.S1840R;	1.00163297747192E-4	0.04
18	43460188	C	A	18	45880223	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.G5519T:p.S1840I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.G2144T:p.S715I;ENSG00000152223:ENST00000282041:exon32:c.G5519T:p.S1840I;	0.999744660026026	0.962
18	43460188	C	G	18	45880223	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.G5519C:p.S1840T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.G2144C:p.S715T;ENSG00000152223:ENST00000282041:exon32:c.G5519C:p.S1840T;	0.999807834062796	0.978
18	43460188	C	T	18	45880223	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon32:c.G5519A:p.S1840N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon15:c.G2144A:p.S715N;ENSG00000152223:ENST00000282041:exon32:c.G5519A:p.S1840N;	0.999721401141306	0.862
18	43460189	C	A	18	45880224	y	y	splicing	EPG5(NM_020964:exon33:c.5519-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5519-1G>T;ENST00000587884:exon17:c.2270-1G>T;ENST00000590884:exon16:c.2088-1G>T;ENST00000592272:exon16:c.2144-1G>T)	.	.	0.999964821358849	0.882
18	43460189	C	G	18	45880224	y	y	splicing	EPG5(NM_020964:exon33:c.5519-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5519-1G>C;ENST00000587884:exon17:c.2270-1G>C;ENST00000590884:exon16:c.2088-1G>C;ENST00000592272:exon16:c.2144-1G>C)	.	.	0.999946529628739	0.874
18	43460189	C	T	18	45880224	y	y	splicing	EPG5(NM_020964:exon33:c.5519-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5519-1G>A;ENST00000587884:exon17:c.2270-1G>A;ENST00000590884:exon16:c.2088-1G>A;ENST00000592272:exon16:c.2144-1G>A)	.	.	0.999964821358849	0.884
18	43460190	T	A	18	45880225	y	y	splicing	EPG5(NM_020964:exon33:c.5519-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5519-2A>T;ENST00000587884:exon17:c.2270-2A>T;ENST00000590884:exon16:c.2088-2A>T;ENST00000592272:exon16:c.2144-2A>T)	.	.	0.999946188727699	0.964
18	43460190	T	C	18	45880225	y	y	splicing	EPG5(NM_020964:exon33:c.5519-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5519-2A>G;ENST00000587884:exon17:c.2270-2A>G;ENST00000590884:exon16:c.2088-2A>G;ENST00000592272:exon16:c.2144-2A>G)	.	.	0.999964896440643	0.962
18	43460190	T	G	18	45880225	y	y	splicing	EPG5(NM_020964:exon33:c.5519-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon33:c.5519-2A>C;ENST00000587884:exon17:c.2270-2A>C;ENST00000590884:exon16:c.2088-2A>C;ENST00000592272:exon16:c.2144-2A>C)	.	.	0.999964896440643	0.962
18	43460191	G	A	18	45880226	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.05978628859663E-4	0.154
18	43460191	G	C	18	45880226	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997978258242218	0.824
18	43460191	G	T	18	45880226	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.912948290366661	0.614
18	43460192	C	A	18	45880227	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.1735558728699E-5	0.01
18	43460192	C	G	18	45880227	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.78651511172793E-5	0.0
18	43460192	C	T	18	45880227	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.88999504274072E-5	0.0
18	43460193	C	A	18	45880228	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.44173914748644E-5	0.0
18	43460193	C	G	18	45880228	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.44173914748644E-5	0.0
18	43460193	C	T	18	45880228	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.105801100016841	0.488
18	43460194	A	C	18	45880229	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00614953244077153	0.198
18	43460194	A	G	18	45880229	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.15913805299672E-5	0.016
18	43460194	A	T	18	45880229	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.94940021397273	0.812
18	43460195	G	A	18	45880230	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.19355865273444E-5	0.0
18	43460195	G	C	18	45880230	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00128954539508806	0.058
18	43460195	G	T	18	45880230	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.86136241035816E-4	0.064
18	43460196	C	A	18	45880231	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.29662544977112E-4	0.004
18	43460196	C	G	18	45880231	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.60139891416258E-4	0.006
18	43460196	C	T	18	45880231	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.71232991582348E-4	0.084
18	43460197	A	C	18	45880232	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00225213244543205	0.202
18	43460197	A	G	18	45880232	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.02109439186676E-4	0.01
18	43460197	A	T	18	45880232	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999950455345767	0.914
18	43460198	G	A	18	45880233	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.55851875939624E-5	0.002
18	43460198	G	C	18	45880233	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.34404362507725E-4	0.012
18	43460198	G	T	18	45880233	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.63043257735987E-4	0.02
18	43460199	G	A	18	45880234	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.97661099610389E-6	0.004
18	43460199	G	C	18	45880234	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00331210947544252	0.062
18	43460199	G	T	18	45880234	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00156702003100447	0.064
18	43460200	G	A	18	45880235	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.69523942706158E-5	0.0
18	43460200	G	C	18	45880235	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.18091378325357E-4	0.024
18	43460200	G	T	18	45880235	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00100171318619166	0.024
18	43462231	A	C	18	45882266	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.61968490626263E-4	0.06
18	43462231	A	G	18	45882266	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.61968490626263E-4	0.052
18	43462231	A	T	18	45882266	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.1872479593391E-5	0.03
18	43462232	C	A	18	45882267	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.43288124284415E-4	0.006
18	43462232	C	G	18	45882267	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.05248868267426E-4	0.012
18	43462232	C	T	18	45882267	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.22903472952351E-4	0.012
18	43462233	A	C	18	45882268	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.667805082672885	0.642
18	43462233	A	G	18	45882268	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.370655002075231	0.746
18	43462233	A	T	18	45882268	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.798345091193779	0.66
18	43462234	C	A	18	45882269	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999785473658496	0.858
18	43462234	C	G	18	45882269	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998273349797793	0.912
18	43462234	C	T	18	45882269	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997774099735689	0.964
18	43462235	T	A	18	45882270	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994577964180374	0.764
18	43462235	T	C	18	45882270	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.991215939749947	0.84
18	43462235	T	G	18	45882270	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.971044323046137	0.694
18	43462236	T	A	18	45882271	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.955963108203091	0.754
18	43462236	T	C	18	45882271	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0445401887356798	0.214
18	43462236	T	G	18	45882271	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999831754479239	0.906
18	43462237	A	C	18	45882272	y	y	splicing	EPG5(NM_020964:exon32:c.5518+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5518+2T>G;ENST00000587884:exon16:c.2269+2T>G;ENST00000590884:exon15:c.2087+2T>G;ENST00000592272:exon15:c.2143+2T>G)	.	.	0.999988247793601	0.928
18	43462237	A	G	18	45882272	y	y	splicing	EPG5(NM_020964:exon32:c.5518+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5518+2T>C;ENST00000587884:exon16:c.2269+2T>C;ENST00000590884:exon15:c.2087+2T>C;ENST00000592272:exon15:c.2143+2T>C)	.	.	0.99340600729494	0.662
18	43462237	A	T	18	45882272	y	y	splicing	EPG5(NM_020964:exon32:c.5518+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5518+2T>A;ENST00000587884:exon16:c.2269+2T>A;ENST00000590884:exon15:c.2087+2T>A;ENST00000592272:exon15:c.2143+2T>A)	.	.	0.999988247793601	0.928
18	43462238	C	A	18	45882273	y	y	splicing	EPG5(NM_020964:exon32:c.5518+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5518+1G>T;ENST00000587884:exon16:c.2269+1G>T;ENST00000590884:exon15:c.2087+1G>T;ENST00000592272:exon15:c.2143+1G>T)	.	.	0.999985532734767	0.936
18	43462238	C	G	18	45882273	y	y	splicing	EPG5(NM_020964:exon32:c.5518+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5518+1G>C;ENST00000587884:exon16:c.2269+1G>C;ENST00000590884:exon15:c.2087+1G>C;ENST00000592272:exon15:c.2143+1G>C)	.	.	0.999985532734767	0.936
18	43462238	C	T	18	45882273	y	y	splicing	EPG5(NM_020964:exon32:c.5518+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5518+1G>A;ENST00000587884:exon16:c.2269+1G>A;ENST00000590884:exon15:c.2087+1G>A;ENST00000592272:exon15:c.2143+1G>A)	.	.	0.999985532734767	0.936
18	43462239	T	A	18	45882274	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.A5518T:p.S1840C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2143T:p.S715C;ENSG00000152223:ENST00000282041:exon31:c.A5518T:p.S1840C;	0.634966422945855	0.54
18	43462239	T	C	18	45882274	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.A5518G:p.S1840G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2143G:p.S715G;ENSG00000152223:ENST00000282041:exon31:c.A5518G:p.S1840G;	0.0701401478254534	0.264
18	43462239	T	G	18	45882274	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.A5518C:p.S1840R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2143C:p.S715R;ENSG00000152223:ENST00000282041:exon31:c.A5518C:p.S1840R;	0.438012297441336	0.754
18	43462240	T	A	18	45882275	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.A5517T:p.Q1839H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2142T:p.Q714H;ENSG00000152223:ENST00000282041:exon31:c.A5517T:p.Q1839H;	0.478336196829598	0.512
18	43462240	T	C	18	45882275	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon31:c.A5517G:p.Q1839Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2142G:p.Q714Q;ENSG00000152223:ENST00000282041:exon31:c.A5517G:p.Q1839Q;	0.0249733140277693	0.266
18	43462240	T	G	18	45882275	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.A5517C:p.Q1839H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2142C:p.Q714H;ENSG00000152223:ENST00000282041:exon31:c.A5517C:p.Q1839H;	0.445716421687718	0.55
18	43462241	T	A	18	45882276	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.A5516T:p.Q1839L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2141T:p.Q714L;ENSG00000152223:ENST00000282041:exon31:c.A5516T:p.Q1839L;	0.941080846178437	0.62
18	43462241	T	C	18	45882276	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.A5516G:p.Q1839R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2141G:p.Q714R;ENSG00000152223:ENST00000282041:exon31:c.A5516G:p.Q1839R;	0.231853604829817	0.506
18	43462241	T	G	18	45882276	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.A5516C:p.Q1839P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.A2141C:p.Q714P;ENSG00000152223:ENST00000282041:exon31:c.A5516C:p.Q1839P;	0.627443716432743	0.666
18	43462451	A	C	18	45882486	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.T5306G:p.F1769C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.T1931G:p.F644C;ENSG00000152223:ENST00000282041:exon31:c.T5306G:p.F1769C;	0.245384315315603	0.546
18	43462451	A	G	18	45882486	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.T5306C:p.F1769S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.T1931C:p.F644S;ENSG00000152223:ENST00000282041:exon31:c.T5306C:p.F1769S;	0.19033591477499	0.53
18	43462451	A	T	18	45882486	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.T5306A:p.F1769Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.T1931A:p.F644Y;ENSG00000152223:ENST00000282041:exon31:c.T5306A:p.F1769Y;	0.269388030340276	0.478
18	43462452	A	C	18	45882487	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.T5305G:p.F1769V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.T1930G:p.F644V;ENSG00000152223:ENST00000282041:exon31:c.T5305G:p.F1769V;	0.520374132312986	0.634
18	43462452	A	G	18	45882487	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.T5305C:p.F1769L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.T1930C:p.F644L;ENSG00000152223:ENST00000282041:exon31:c.T5305C:p.F1769L;	0.850422229488515	0.822
18	43462452	A	T	18	45882487	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon31:c.T5305A:p.F1769I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon14:c.T1930A:p.F644I;ENSG00000152223:ENST00000282041:exon31:c.T5305A:p.F1769I;	0.506723652173768	0.728
18	43462453	C	A	18	45882488	y	y	splicing	EPG5(NM_020964:exon32:c.5305-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5305-1G>T;ENST00000587884:exon16:c.2056-1G>T;ENST00000592272:exon15:c.1930-1G>T)	.	.	0.999981760802075	0.938
18	43462453	C	G	18	45882488	y	y	splicing	EPG5(NM_020964:exon32:c.5305-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5305-1G>C;ENST00000587884:exon16:c.2056-1G>C;ENST00000592272:exon15:c.1930-1G>C)	.	.	0.999981760802075	0.938
18	43462453	C	T	18	45882488	y	y	splicing	EPG5(NM_020964:exon32:c.5305-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5305-1G>A;ENST00000587884:exon16:c.2056-1G>A;ENST00000592272:exon15:c.1930-1G>A)	.	.	0.999981760802075	0.938
18	43462454	T	A	18	45882489	y	y	splicing	EPG5(NM_020964:exon32:c.5305-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5305-2A>T;ENST00000587884:exon16:c.2056-2A>T;ENST00000592272:exon15:c.1930-2A>T)	.	.	0.999989917668626	0.928
18	43462454	T	C	18	45882489	y	y	splicing	EPG5(NM_020964:exon32:c.5305-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5305-2A>G;ENST00000587884:exon16:c.2056-2A>G;ENST00000592272:exon15:c.1930-2A>G)	.	.	0.999989917668626	0.928
18	43462454	T	G	18	45882489	y	y	splicing	EPG5(NM_020964:exon32:c.5305-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon32:c.5305-2A>C;ENST00000587884:exon16:c.2056-2A>C;ENST00000592272:exon15:c.1930-2A>C)	.	.	0.999989917668626	0.928
18	43462455	A	C	18	45882490	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99809545532959	0.746
18	43462455	A	G	18	45882490	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.40963392102534E-4	0.0
18	43462455	A	T	18	45882490	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00723974366532015	0.06
18	43462456	A	C	18	45882491	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.97222779734905E-4	0.046
18	43462456	A	G	18	45882491	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.7607922589149E-4	0.0
18	43462456	A	T	18	45882491	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.25738466732591E-4	0.044
18	43462457	A	C	18	45882492	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0818564132241411	0.386
18	43462457	A	G	18	45882492	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00791567403145455	0.152
18	43462457	A	T	18	45882492	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0814797637422857	0.442
18	43462458	A	C	18	45882493	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.22957869151952E-4	0.1
18	43462458	A	G	18	45882493	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.12687119141501E-4	0.024
18	43462458	A	T	18	45882493	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.57569224773797E-4	0.056
18	43462459	A	C	18	45882494	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.8240503828813E-4	0.044
18	43462459	A	G	18	45882494	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.43267422081488E-4	0.008
18	43462459	A	T	18	45882494	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.67114240976493E-4	0.064
18	43462460	G	A	18	45882495	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00107237798720714	0.008
18	43462460	G	C	18	45882495	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00170844937352094	0.062
18	43462460	G	T	18	45882495	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00326147154442949	0.088
18	43462461	A	C	18	45882496	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.69997858402823E-5	0.13
18	43462461	A	G	18	45882496	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.59002096564604E-5	0.066
18	43462461	A	T	18	45882496	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.73711938466306E-5	0.12
18	43462462	A	C	18	45882497	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00178226462733146	0.172
18	43462462	A	G	18	45882497	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.00353366316821E-4	0.09
18	43462462	A	T	18	45882497	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00333700880953259	0.188
18	43462463	A	C	18	45882498	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.308309832911374	0.502
18	43462463	A	G	18	45882498	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.125151007096315	0.356
18	43462463	A	T	18	45882498	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.375509176245478	0.544
18	43462464	A	C	18	45882499	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.89460226021984E-4	0.116
18	43462464	A	G	18	45882499	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.81482199684786E-4	0.03
18	43462464	A	T	18	45882499	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00194612309007835	0.116
18	43464574	C	A	18	45884609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.20029271452944E-4	0.012
18	43464574	C	G	18	45884609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.90783894462196E-4	0.006
18	43464574	C	T	18	45884609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.20029271452944E-4	0.014
18	43464575	A	C	18	45884610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.84117537395655E-4	0.012
18	43464575	A	G	18	45884610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.79890658051804E-4	0.008
18	43464575	A	T	18	45884610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.87620195966887E-4	0.008
18	43464576	T	A	18	45884611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.98078171973847E-5	0.018
18	43464576	T	C	18	45884611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.54031270402884E-4	0.004
18	43464576	T	G	18	45884611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.01528712045689E-4	0.016
18	43464577	C	A	18	45884612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.387644981085311	0.462
18	43464577	C	G	18	45884612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.202388467094847	0.462
18	43464577	C	T	18	45884612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.676866798606002	0.514
18	43464578	T	A	18	45884613	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0525748107643831	0.258
18	43464578	T	C	18	45884613	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.400442672620791	0.37
18	43464578	T	G	18	45884613	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0656273324362582	0.294
18	43464579	T	A	18	45884614	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.576214532250352	0.466
18	43464579	T	C	18	45884614	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00175660056541102	0.072
18	43464579	T	G	18	45884614	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.514834272935676	0.5
18	43464580	A	C	18	45884615	y	y	splicing	EPG5(NM_020964:exon31:c.5304+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5304+2T>G;ENST00000587884:exon15:c.2055+2T>G;ENST00000590884:exon14:c.1929+2T>G;ENST00000592272:exon14:c.1929+2T>G)	.	.	0.999988247793601	0.932
18	43464580	A	G	18	45884615	y	y	splicing	EPG5(NM_020964:exon31:c.5304+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5304+2T>C;ENST00000587884:exon15:c.2055+2T>C;ENST00000590884:exon14:c.1929+2T>C;ENST00000592272:exon14:c.1929+2T>C)	.	.	0.99340600729494	0.7
18	43464580	A	T	18	45884615	y	y	splicing	EPG5(NM_020964:exon31:c.5304+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5304+2T>A;ENST00000587884:exon15:c.2055+2T>A;ENST00000590884:exon14:c.1929+2T>A;ENST00000592272:exon14:c.1929+2T>A)	.	.	0.999988247793601	0.932
18	43464581	C	A	18	45884616	y	y	splicing	EPG5(NM_020964:exon31:c.5304+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5304+1G>T;ENST00000587884:exon15:c.2055+1G>T;ENST00000590884:exon14:c.1929+1G>T;ENST00000592272:exon14:c.1929+1G>T)	.	.	0.999990361384395	0.938
18	43464581	C	G	18	45884616	y	y	splicing	EPG5(NM_020964:exon31:c.5304+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5304+1G>C;ENST00000587884:exon15:c.2055+1G>C;ENST00000590884:exon14:c.1929+1G>C;ENST00000592272:exon14:c.1929+1G>C)	.	.	0.999990361384395	0.938
18	43464581	C	T	18	45884616	y	y	splicing	EPG5(NM_020964:exon31:c.5304+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5304+1G>A;ENST00000587884:exon15:c.2055+1G>A;ENST00000590884:exon14:c.1929+1G>A;ENST00000592272:exon14:c.1929+1G>A)	.	.	0.999990361384395	0.938
18	43464582	C	A	18	45884617	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.G5304T:p.K1768N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.G1929T:p.K643N;ENSG00000152223:ENST00000282041:exon30:c.G5304T:p.K1768N;ENSG00000152223:ENST00000590884:exon13:c.G1929T:p.K643N;	0.999884116255745	0.978
18	43464582	C	G	18	45884617	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.G5304C:p.K1768N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.G1929C:p.K643N;ENSG00000152223:ENST00000282041:exon30:c.G5304C:p.K1768N;ENSG00000152223:ENST00000590884:exon13:c.G1929C:p.K643N;	0.999988193642252	0.948
18	43464582	C	T	18	45884617	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon30:c.G5304A:p.K1768K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.G1929A:p.K643K;ENSG00000152223:ENST00000282041:exon30:c.G5304A:p.K1768K;ENSG00000152223:ENST00000590884:exon13:c.G1929A:p.K643K;	0.999834207868214	0.996
18	43464583	T	A	18	45884618	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.A5303T:p.K1768M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.A1928T:p.K643M;ENSG00000152223:ENST00000282041:exon30:c.A5303T:p.K1768M;ENSG00000152223:ENST00000590884:exon13:c.A1928T:p.K643M;	0.983718323205234	0.604
18	43464583	T	C	18	45884618	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.A5303G:p.K1768R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.A1928G:p.K643R;ENSG00000152223:ENST00000282041:exon30:c.A5303G:p.K1768R;ENSG00000152223:ENST00000590884:exon13:c.A1928G:p.K643R;	0.995065228239247	0.924
18	43464583	T	G	18	45884618	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.A5303C:p.K1768T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.A1928C:p.K643T;ENSG00000152223:ENST00000282041:exon30:c.A5303C:p.K1768T;ENSG00000152223:ENST00000590884:exon13:c.A1928C:p.K643T;	0.990878469206079	0.866
18	43464584	T	A	18	45884619	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon30:c.A5302T:p.K1768X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000592272:exon13:c.A1927T:p.K643X;ENSG00000152223:ENST00000282041:exon30:c.A5302T:p.K1768X;ENSG00000152223:ENST00000590884:exon13:c.A1927T:p.K643X;	0.96990788679876	0.708
18	43464584	T	C	18	45884619	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.A5302G:p.K1768E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.A1927G:p.K643E;ENSG00000152223:ENST00000282041:exon30:c.A5302G:p.K1768E;ENSG00000152223:ENST00000590884:exon13:c.A1927G:p.K643E;	0.418687111487268	0.514
18	43464584	T	G	18	45884619	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.A5302C:p.K1768Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.A1927C:p.K643Q;ENSG00000152223:ENST00000282041:exon30:c.A5302C:p.K1768Q;ENSG00000152223:ENST00000590884:exon13:c.A1927C:p.K643Q;	0.787703066079257	0.682
18	43464775	A	C	18	45884810	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.T5111G:p.V1704G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.T1736G:p.V579G;ENSG00000152223:ENST00000282041:exon30:c.T5111G:p.V1704G;ENSG00000152223:ENST00000590884:exon13:c.T1736G:p.V579G;	0.77283187489228	0.582
18	43464775	A	G	18	45884810	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.T5111C:p.V1704A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.T1736C:p.V579A;ENSG00000152223:ENST00000282041:exon30:c.T5111C:p.V1704A;ENSG00000152223:ENST00000590884:exon13:c.T1736C:p.V579A;	0.745840405438162	0.6
18	43464775	A	T	18	45884810	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.T5111A:p.V1704E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.T1736A:p.V579E;ENSG00000152223:ENST00000282041:exon30:c.T5111A:p.V1704E;ENSG00000152223:ENST00000590884:exon13:c.T1736A:p.V579E;	0.797130904436554	0.566
18	43464776	C	A	18	45884811	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.G5110T:p.V1704L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.G1735T:p.V579L;ENSG00000152223:ENST00000282041:exon30:c.G5110T:p.V1704L;ENSG00000152223:ENST00000590884:exon13:c.G1735T:p.V579L;	0.999945476789171	0.998
18	43464776	C	G	18	45884811	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.G5110C:p.V1704L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.G1735C:p.V579L;ENSG00000152223:ENST00000282041:exon30:c.G5110C:p.V1704L;ENSG00000152223:ENST00000590884:exon13:c.G1735C:p.V579L;	0.999885973924169	0.974
18	43464776	C	T	18	45884811	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon30:c.G5110A:p.V1704I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon13:c.G1735A:p.V579I;ENSG00000152223:ENST00000282041:exon30:c.G5110A:p.V1704I;ENSG00000152223:ENST00000590884:exon13:c.G1735A:p.V579I;	0.998946899119475	0.87
18	43464777	C	A	18	45884812	y	y	splicing	EPG5(NM_020964:exon31:c.5110-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5110-1G>T;ENST00000587884:exon15:c.1861-1G>T;ENST00000590884:exon14:c.1735-1G>T;ENST00000592272:exon14:c.1735-1G>T)	.	.	0.999990361384395	0.938
18	43464777	C	G	18	45884812	y	y	splicing	EPG5(NM_020964:exon31:c.5110-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5110-1G>C;ENST00000587884:exon15:c.1861-1G>C;ENST00000590884:exon14:c.1735-1G>C;ENST00000592272:exon14:c.1735-1G>C)	.	.	0.999990361384395	0.938
18	43464777	C	T	18	45884812	y	y	splicing	EPG5(NM_020964:exon31:c.5110-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5110-1G>A;ENST00000587884:exon15:c.1861-1G>A;ENST00000590884:exon14:c.1735-1G>A;ENST00000592272:exon14:c.1735-1G>A)	.	.	0.999990361384395	0.938
18	43464778	T	A	18	45884813	y	y	splicing	EPG5(NM_020964:exon31:c.5110-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5110-2A>T;ENST00000587884:exon15:c.1861-2A>T;ENST00000590884:exon14:c.1735-2A>T;ENST00000592272:exon14:c.1735-2A>T)	.	.	0.999988247793601	0.932
18	43464778	T	C	18	45884813	y	y	splicing	EPG5(NM_020964:exon31:c.5110-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5110-2A>G;ENST00000587884:exon15:c.1861-2A>G;ENST00000590884:exon14:c.1735-2A>G;ENST00000592272:exon14:c.1735-2A>G)	.	.	0.999988247793601	0.932
18	43464778	T	G	18	45884813	y	y	splicing	EPG5(NM_020964:exon31:c.5110-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon31:c.5110-2A>C;ENST00000587884:exon15:c.1861-2A>C;ENST00000590884:exon14:c.1735-2A>C;ENST00000592272:exon14:c.1735-2A>C)	.	.	0.999988247793601	0.932
18	43464779	T	A	18	45884814	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.19898138611637E-4	0.026
18	43464779	T	C	18	45884814	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0966179349264157	0.398
18	43464779	T	G	18	45884814	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.25639839537264E-4	0.076
18	43464780	G	A	18	45884815	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.17497616081444E-5	0.004
18	43464780	G	C	18	45884815	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.17247954196663E-4	0.0
18	43464780	G	T	18	45884815	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.27953436948255E-4	0.0
18	43464781	G	A	18	45884816	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.76594751677877E-5	0.0
18	43464781	G	C	18	45884816	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00161414163718304	0.128
18	43464781	G	T	18	45884816	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.36381775124299E-4	0.048
18	43464782	A	C	18	45884817	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0310499782609998	0.128
18	43464782	A	G	18	45884817	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.15346678795644E-5	0.004
18	43464782	A	T	18	45884817	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00960681836540951	0.112
18	43464783	A	C	18	45884818	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0246166217912687	0.124
18	43464783	A	G	18	45884818	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.2571454355398E-4	0.042
18	43464783	A	T	18	45884818	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.024900902604038	0.12
18	43464784	A	C	18	45884819	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.29641861856625E-4	0.142
18	43464784	A	G	18	45884819	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.97460600068147E-5	0.0
18	43464784	A	T	18	45884819	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0024285804627487	0.078
18	43464785	A	C	18	45884820	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00380079231922989	0.114
18	43464785	A	G	18	45884820	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.25039385356077E-4	0.006
18	43464785	A	T	18	45884820	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00142553726060036	0.11
18	43464786	A	C	18	45884821	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999887420191067	0.984
18	43464786	A	G	18	45884821	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.37156127806251E-4	0.004
18	43464786	A	T	18	45884821	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00968807377392994	0.118
18	43464787	T	A	18	45884822	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.04364563737081E-5	0.074
18	43464787	T	C	18	45884822	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.05930152703404E-5	0.0
18	43464787	T	G	18	45884822	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.48826609440185E-5	0.0
18	43464788	A	C	18	45884823	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.02824637582757E-4	0.074
18	43464788	A	G	18	45884823	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.77876124306354E-5	0.002
18	43464788	A	T	18	45884823	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.40067284651165E-4	0.05
18	43467708	A	C	18	45887743	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.16080636402324E-4	0.0
18	43467708	A	G	18	45887743	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.72031392874506E-4	0.002
18	43467708	A	T	18	45887743	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.05309614883202E-4	0.0
18	43467709	G	A	18	45887744	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.81273164823328E-5	0.002
18	43467709	G	C	18	45887744	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.81273164823328E-5	0.002
18	43467709	G	T	18	45887744	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.42256383822114E-5	0.0
18	43467710	C	A	18	45887745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.20396867847068E-5	0.0
18	43467710	C	G	18	45887745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.991126329558E-5	0.012
18	43467710	C	T	18	45887745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.5793916747047E-4	0.004
18	43467711	C	A	18	45887746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.878783172261754	0.52
18	43467711	C	G	18	45887746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.477958635452169	0.426
18	43467711	C	T	18	45887746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.957254270722394	0.618
18	43467712	T	A	18	45887747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.459814333578287	0.382
18	43467712	T	C	18	45887747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.771677896187035	0.502
18	43467712	T	G	18	45887747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.178167311578791	0.332
18	43467713	T	A	18	45887748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998082012820942	0.892
18	43467713	T	C	18	45887748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0610684877436584	0.246
18	43467713	T	G	18	45887748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998397048601438	0.88
18	43467714	A	C	18	45887749	y	y	splicing	EPG5(NM_020964:exon30:c.5109+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.5109+2T>G;ENST00000587884:exon14:c.1860+2T>G;ENST00000590884:exon13:c.1734+2T>G;ENST00000592272:exon13:c.1734+2T>G)	.	.	0.999988247793601	0.93
18	43467714	A	G	18	45887749	y	y	splicing	EPG5(NM_020964:exon30:c.5109+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.5109+2T>C;ENST00000587884:exon14:c.1860+2T>C;ENST00000590884:exon13:c.1734+2T>C;ENST00000592272:exon13:c.1734+2T>C)	.	.	0.99340600729494	0.694
18	43467714	A	T	18	45887749	y	y	splicing	EPG5(NM_020964:exon30:c.5109+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.5109+2T>A;ENST00000587884:exon14:c.1860+2T>A;ENST00000590884:exon13:c.1734+2T>A;ENST00000592272:exon13:c.1734+2T>A)	.	.	0.999988247793601	0.93
18	43467715	C	A	18	45887750	y	y	splicing	EPG5(NM_020964:exon30:c.5109+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.5109+1G>T;ENST00000587884:exon14:c.1860+1G>T;ENST00000590884:exon13:c.1734+1G>T;ENST00000592272:exon13:c.1734+1G>T)	.	.	0.999990361384395	0.938
18	43467715	C	G	18	45887750	y	y	splicing	EPG5(NM_020964:exon30:c.5109+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.5109+1G>C;ENST00000587884:exon14:c.1860+1G>C;ENST00000590884:exon13:c.1734+1G>C;ENST00000592272:exon13:c.1734+1G>C)	.	.	0.999990361384395	0.938
18	43467715	C	T	18	45887750	y	y	splicing	EPG5(NM_020964:exon30:c.5109+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.5109+1G>A;ENST00000587884:exon14:c.1860+1G>A;ENST00000590884:exon13:c.1734+1G>A;ENST00000592272:exon13:c.1734+1G>A)	.	.	0.999990361384395	0.938
18	43467716	C	A	18	45887751	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.G5109T:p.Q1703H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1734T:p.Q578H;ENSG00000152223:ENST00000282041:exon29:c.G5109T:p.Q1703H;ENSG00000152223:ENST00000590884:exon12:c.G1734T:p.Q578H;	0.999960514043693	0.956
18	43467716	C	G	18	45887751	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.G5109C:p.Q1703H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1734C:p.Q578H;ENSG00000152223:ENST00000282041:exon29:c.G5109C:p.Q1703H;ENSG00000152223:ENST00000590884:exon12:c.G1734C:p.Q578H;	0.999987132998812	0.962
18	43467716	C	T	18	45887751	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon29:c.G5109A:p.Q1703Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1734A:p.Q578Q;ENSG00000152223:ENST00000282041:exon29:c.G5109A:p.Q1703Q;ENSG00000152223:ENST00000590884:exon12:c.G1734A:p.Q578Q;	0.999345720530633	0.928
18	43467717	T	A	18	45887752	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.A5108T:p.Q1703L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.A1733T:p.Q578L;ENSG00000152223:ENST00000282041:exon29:c.A5108T:p.Q1703L;ENSG00000152223:ENST00000590884:exon12:c.A1733T:p.Q578L;	0.997420885923714	0.774
18	43467717	T	C	18	45887752	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.A5108G:p.Q1703R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.A1733G:p.Q578R;ENSG00000152223:ENST00000282041:exon29:c.A5108G:p.Q1703R;ENSG00000152223:ENST00000590884:exon12:c.A1733G:p.Q578R;	0.999359489724872	0.966
18	43467717	T	G	18	45887752	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.A5108C:p.Q1703P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.A1733C:p.Q578P;ENSG00000152223:ENST00000282041:exon29:c.A5108C:p.Q1703P;ENSG00000152223:ENST00000590884:exon12:c.A1733C:p.Q578P;	0.992537857328314	0.862
18	43467718	G	A	18	45887753	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon29:c.C5107T:p.Q1703X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000592272:exon12:c.C1732T:p.Q578X;ENSG00000152223:ENST00000282041:exon29:c.C5107T:p.Q1703X;ENSG00000152223:ENST00000590884:exon12:c.C1732T:p.Q578X;	0.998606299416793	0.824
18	43467718	G	C	18	45887753	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.C5107G:p.Q1703E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.C1732G:p.Q578E;ENSG00000152223:ENST00000282041:exon29:c.C5107G:p.Q1703E;ENSG00000152223:ENST00000590884:exon12:c.C1732G:p.Q578E;	0.950345901296769	0.694
18	43467718	G	T	18	45887753	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.C5107A:p.Q1703K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.C1732A:p.Q578K;ENSG00000152223:ENST00000282041:exon29:c.C5107A:p.Q1703K;ENSG00000152223:ENST00000590884:exon12:c.C1732A:p.Q578K;	0.965012257316836	0.828
18	43467871	C	A	18	45887906	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.G4954T:p.A1652S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1579T:p.A527S;ENSG00000152223:ENST00000282041:exon29:c.G4954T:p.A1652S;ENSG00000152223:ENST00000590884:exon12:c.G1579T:p.A527S;	0.0154925011071138	0.144
18	43467871	C	G	18	45887906	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.G4954C:p.A1652P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1579C:p.A527P;ENSG00000152223:ENST00000282041:exon29:c.G4954C:p.A1652P;ENSG00000152223:ENST00000590884:exon12:c.G1579C:p.A527P;	0.00888777971604951	0.27
18	43467871	C	T	18	45887906	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon29:c.G4954A:p.A1652T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1579A:p.A527T;ENSG00000152223:ENST00000282041:exon29:c.G4954A:p.A1652T;ENSG00000152223:ENST00000590884:exon12:c.G1579A:p.A527T;	1.85934560248084E-4	0.01
18	43467872	C	A	18	45887907	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon29:c.G4953T:p.T1651T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1578T:p.T526T;ENSG00000152223:ENST00000282041:exon29:c.G4953T:p.T1651T;ENSG00000152223:ENST00000590884:exon12:c.G1578T:p.T526T;	0.960495428351634	0.668
18	43467872	C	G	18	45887907	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon29:c.G4953C:p.T1651T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1578C:p.T526T;ENSG00000152223:ENST00000282041:exon29:c.G4953C:p.T1651T;ENSG00000152223:ENST00000590884:exon12:c.G1578C:p.T526T;	0.779501001468446	0.6
18	43467872	C	T	18	45887907	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon29:c.G4953A:p.T1651T;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon12:c.G1578A:p.T526T;ENSG00000152223:ENST00000282041:exon29:c.G4953A:p.T1651T;ENSG00000152223:ENST00000590884:exon12:c.G1578A:p.T526T;	0.272425530373194	0.336
18	43467873	C	A	18	45887908	y	y	splicing	EPG5(NM_020964:exon30:c.4953-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.4953-1G>T;ENST00000587884:exon14:c.1704-1G>T;ENST00000590884:exon13:c.1578-1G>T;ENST00000592272:exon13:c.1578-1G>T)	.	.	0.999990361384395	0.938
18	43467873	C	G	18	45887908	y	y	splicing	EPG5(NM_020964:exon30:c.4953-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.4953-1G>C;ENST00000587884:exon14:c.1704-1G>C;ENST00000590884:exon13:c.1578-1G>C;ENST00000592272:exon13:c.1578-1G>C)	.	.	0.999990361384395	0.938
18	43467873	C	T	18	45887908	y	y	splicing	EPG5(NM_020964:exon30:c.4953-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.4953-1G>A;ENST00000587884:exon14:c.1704-1G>A;ENST00000590884:exon13:c.1578-1G>A;ENST00000592272:exon13:c.1578-1G>A)	.	.	0.999990361384395	0.938
18	43467874	T	A	18	45887909	y	y	splicing	EPG5(NM_020964:exon30:c.4953-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.4953-2A>T;ENST00000587884:exon14:c.1704-2A>T;ENST00000590884:exon13:c.1578-2A>T;ENST00000592272:exon13:c.1578-2A>T)	.	.	0.999988247793601	0.928
18	43467874	T	C	18	45887909	y	y	splicing	EPG5(NM_020964:exon30:c.4953-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.4953-2A>G;ENST00000587884:exon14:c.1704-2A>G;ENST00000590884:exon13:c.1578-2A>G;ENST00000592272:exon13:c.1578-2A>G)	.	.	0.999988247793601	0.928
18	43467874	T	G	18	45887909	y	y	splicing	EPG5(NM_020964:exon30:c.4953-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon30:c.4953-2A>C;ENST00000587884:exon14:c.1704-2A>C;ENST00000590884:exon13:c.1578-2A>C;ENST00000592272:exon13:c.1578-2A>C)	.	.	0.999988247793601	0.928
18	43467875	G	A	18	45887910	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00480994869954831	0.024
18	43467875	G	C	18	45887910	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999782013859305	0.938
18	43467875	G	T	18	45887910	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.932950798494411	0.672
18	43467876	T	A	18	45887911	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.92729884093034E-5	0.01
18	43467876	T	C	18	45887911	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.12356856637603E-5	0.008
18	43467876	T	G	18	45887911	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.16087758641832E-4	0.008
18	43467877	G	A	18	45887912	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.17240332266683E-4	0.018
18	43467877	G	C	18	45887912	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0130950546348138	0.132
18	43467877	G	T	18	45887912	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00583201208073473	0.088
18	43467878	G	A	18	45887913	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.83111395736853E-4	0.062
18	43467878	G	C	18	45887913	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.370920570746957	0.336
18	43467878	G	T	18	45887913	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.036810844249828	0.3
18	43467879	G	A	18	45887914	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.34783911030766E-4	0.022
18	43467879	G	C	18	45887914	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0175411387229818	0.116
18	43467879	G	T	18	45887914	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0200901280474535	0.132
18	43467880	A	C	18	45887915	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00425653208891671	0.13
18	43467880	A	G	18	45887915	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.75033459756539E-4	0.0
18	43467880	A	T	18	45887915	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0440266583215534	0.126
18	43467881	A	C	18	45887916	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.920495161795628	0.642
18	43467881	A	G	18	45887916	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00712685748306597	0.08
18	43467881	A	T	18	45887916	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.920495161795628	0.662
18	43467882	A	C	18	45887917	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.993929104503977	0.684
18	43467882	A	G	18	45887917	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.160317220460372	0.382
18	43467882	A	T	18	45887917	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997216175444307	0.842
18	43467883	A	C	18	45887918	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999953576638145	0.952
18	43467883	A	G	18	45887918	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.173211114148775	0.262
18	43467883	A	T	18	45887918	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.992549553114608	0.776
18	43467884	T	A	18	45887919	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.35441228126407E-6	0.052
18	43467884	T	C	18	45887919	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.95750023468954E-4	0.11
18	43467884	T	G	18	45887919	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.16499487353608E-4	0.068
18	43469755	A	C	18	45889790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.69858957237674E-5	0.0
18	43469755	A	G	18	45889790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.28447134163355E-5	0.0
18	43469755	A	T	18	45889790	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.87861318816757E-5	0.0
18	43469756	A	C	18	45889791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.11458344309416E-5	0.0
18	43469756	A	G	18	45889791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.11458344309416E-5	0.0
18	43469756	A	T	18	45889791	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.45905400641734E-5	0.0
18	43469757	A	C	18	45889792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.473408869165855	0.596
18	43469757	A	G	18	45889792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.865427137887444	0.66
18	43469757	A	T	18	45889792	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.839581345733171	0.686
18	43469758	C	A	18	45889793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999037377729171	0.898
18	43469758	C	G	18	45889793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999956901798271	0.994
18	43469758	C	T	18	45889793	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999903688340012	0.958
18	43469759	T	A	18	45889794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.981746397018366	0.764
18	43469759	T	C	18	45889794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.970789084984345	0.854
18	43469759	T	G	18	45889794	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.968153356178171	0.758
18	43469760	T	A	18	45889795	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999716885981536	0.804
18	43469760	T	C	18	45889795	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00140909364736181	0.1
18	43469760	T	G	18	45889795	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.993403598473354	0.73
18	43469761	A	C	18	45889796	y	y	splicing	EPG5(NM_020964:exon29:c.4952+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4952+2T>G;ENST00000587884:exon13:c.1703+2T>G;ENST00000590884:exon12:c.1577+2T>G;ENST00000592272:exon12:c.1577+2T>G)	.	.	0.999988247793601	0.93
18	43469761	A	G	18	45889796	y	y	splicing	EPG5(NM_020964:exon29:c.4952+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4952+2T>C;ENST00000587884:exon13:c.1703+2T>C;ENST00000590884:exon12:c.1577+2T>C;ENST00000592272:exon12:c.1577+2T>C)	.	.	0.994877988051647	0.728
18	43469761	A	T	18	45889796	y	y	splicing	EPG5(NM_020964:exon29:c.4952+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4952+2T>A;ENST00000587884:exon13:c.1703+2T>A;ENST00000590884:exon12:c.1577+2T>A;ENST00000592272:exon12:c.1577+2T>A)	.	.	0.999988247793601	0.93
18	43469762	C	A	18	45889797	y	y	splicing	EPG5(NM_020964:exon29:c.4952+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4952+1G>T;ENST00000587884:exon13:c.1703+1G>T;ENST00000590884:exon12:c.1577+1G>T;ENST00000592272:exon12:c.1577+1G>T)	.	.	0.999990361384395	0.938
18	43469762	C	G	18	45889797	y	y	splicing	EPG5(NM_020964:exon29:c.4952+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4952+1G>C;ENST00000587884:exon13:c.1703+1G>C;ENST00000590884:exon12:c.1577+1G>C;ENST00000592272:exon12:c.1577+1G>C)	.	.	0.999990361384395	0.938
18	43469762	C	T	18	45889797	y	y	splicing	EPG5(NM_020964:exon29:c.4952+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4952+1G>A;ENST00000587884:exon13:c.1703+1G>A;ENST00000590884:exon12:c.1577+1G>A;ENST00000592272:exon12:c.1577+1G>A)	.	.	0.999990361384395	0.938
18	43469763	G	A	18	45889798	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.C4952T:p.T1651M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.C1577T:p.T526M;ENSG00000152223:ENST00000282041:exon28:c.C4952T:p.T1651M;ENSG00000152223:ENST00000590884:exon11:c.C1577T:p.T526M;	0.987025264852123	0.776
18	43469763	G	C	18	45889798	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.C4952G:p.T1651R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.C1577G:p.T526R;ENSG00000152223:ENST00000282041:exon28:c.C4952G:p.T1651R;ENSG00000152223:ENST00000590884:exon11:c.C1577G:p.T526R;	0.855210587423276	0.49
18	43469763	G	T	18	45889798	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.C4952A:p.T1651K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.C1577A:p.T526K;ENSG00000152223:ENST00000282041:exon28:c.C4952A:p.T1651K;ENSG00000152223:ENST00000590884:exon11:c.C1577A:p.T526K;	0.973082924120244	0.786
18	43469764	T	A	18	45889799	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.A4951T:p.T1651S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.A1576T:p.T526S;ENSG00000152223:ENST00000282041:exon28:c.A4951T:p.T1651S;ENSG00000152223:ENST00000590884:exon11:c.A1576T:p.T526S;	0.993044129781042	0.818
18	43469764	T	C	18	45889799	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.A4951G:p.T1651A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.A1576G:p.T526A;ENSG00000152223:ENST00000282041:exon28:c.A4951G:p.T1651A;ENSG00000152223:ENST00000590884:exon11:c.A1576G:p.T526A;	0.988097315957733	0.88
18	43469764	T	G	18	45889799	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.A4951C:p.T1651P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.A1576C:p.T526P;ENSG00000152223:ENST00000282041:exon28:c.A4951C:p.T1651P;ENSG00000152223:ENST00000590884:exon11:c.A1576C:p.T526P;	0.989669100582258	0.842
18	43469765	G	A	18	45889800	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon28:c.C4950T:p.I1650I;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.C1575T:p.I525I;ENSG00000152223:ENST00000282041:exon28:c.C4950T:p.I1650I;ENSG00000152223:ENST00000590884:exon11:c.C1575T:p.I525I;	3.43342481667162E-4	0.028
18	43469765	G	C	18	45889800	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.C4950G:p.I1650M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.C1575G:p.I525M;ENSG00000152223:ENST00000282041:exon28:c.C4950G:p.I1650M;ENSG00000152223:ENST00000590884:exon11:c.C1575G:p.I525M;	3.34372087998448E-6	0.032
18	43469765	G	T	18	45889800	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon28:c.C4950A:p.I1650I;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.C1575A:p.I525I;ENSG00000152223:ENST00000282041:exon28:c.C4950A:p.I1650I;ENSG00000152223:ENST00000590884:exon11:c.C1575A:p.I525I;	3.191707869965E-5	0.01
18	43469904	A	C	18	45889939	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.T4811G:p.F1604C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.T1436G:p.F479C;ENSG00000152223:ENST00000282041:exon28:c.T4811G:p.F1604C;ENSG00000152223:ENST00000590884:exon11:c.T1436G:p.F479C;	0.081001707599548	0.224
18	43469904	A	G	18	45889939	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.T4811C:p.F1604S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.T1436C:p.F479S;ENSG00000152223:ENST00000282041:exon28:c.T4811C:p.F1604S;ENSG00000152223:ENST00000590884:exon11:c.T1436C:p.F479S;	0.612370503989591	0.614
18	43469904	A	T	18	45889939	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.T4811A:p.F1604Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.T1436A:p.F479Y;ENSG00000152223:ENST00000282041:exon28:c.T4811A:p.F1604Y;ENSG00000152223:ENST00000590884:exon11:c.T1436A:p.F479Y;	0.0845953458173828	0.234
18	43469905	A	C	18	45889940	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.T4810G:p.F1604V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.T1435G:p.F479V;ENSG00000152223:ENST00000282041:exon28:c.T4810G:p.F1604V;ENSG00000152223:ENST00000590884:exon11:c.T1435G:p.F479V;	0.860870780037466	0.624
18	43469905	A	G	18	45889940	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.T4810C:p.F1604L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.T1435C:p.F479L;ENSG00000152223:ENST00000282041:exon28:c.T4810C:p.F1604L;ENSG00000152223:ENST00000590884:exon11:c.T1435C:p.F479L;	0.905983296816831	0.752
18	43469905	A	T	18	45889940	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon28:c.T4810A:p.F1604I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon11:c.T1435A:p.F479I;ENSG00000152223:ENST00000282041:exon28:c.T4810A:p.F1604I;ENSG00000152223:ENST00000590884:exon11:c.T1435A:p.F479I;	0.786929102755023	0.776
18	43469906	C	A	18	45889941	y	y	splicing	EPG5(NM_020964:exon29:c.4810-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4810-1G>T;ENST00000587884:exon13:c.1561-1G>T;ENST00000590884:exon12:c.1435-1G>T;ENST00000592272:exon12:c.1435-1G>T)	.	.	0.999990361384395	0.938
18	43469906	C	G	18	45889941	y	y	splicing	EPG5(NM_020964:exon29:c.4810-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4810-1G>C;ENST00000587884:exon13:c.1561-1G>C;ENST00000590884:exon12:c.1435-1G>C;ENST00000592272:exon12:c.1435-1G>C)	.	.	0.999990361384395	0.938
18	43469906	C	T	18	45889941	y	y	splicing	EPG5(NM_020964:exon29:c.4810-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4810-1G>A;ENST00000587884:exon13:c.1561-1G>A;ENST00000590884:exon12:c.1435-1G>A;ENST00000592272:exon12:c.1435-1G>A)	.	.	0.999990361384395	0.938
18	43469907	T	A	18	45889942	y	y	splicing	EPG5(NM_020964:exon29:c.4810-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4810-2A>T;ENST00000587884:exon13:c.1561-2A>T;ENST00000590884:exon12:c.1435-2A>T;ENST00000592272:exon12:c.1435-2A>T)	.	.	0.999988247793601	0.93
18	43469907	T	C	18	45889942	y	y	splicing	EPG5(NM_020964:exon29:c.4810-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4810-2A>G;ENST00000587884:exon13:c.1561-2A>G;ENST00000590884:exon12:c.1435-2A>G;ENST00000592272:exon12:c.1435-2A>G)	.	.	0.999988247793601	0.93
18	43469907	T	G	18	45889942	y	y	splicing	EPG5(NM_020964:exon29:c.4810-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon29:c.4810-2A>C;ENST00000587884:exon13:c.1561-2A>C;ENST00000590884:exon12:c.1435-2A>C;ENST00000592272:exon12:c.1435-2A>C)	.	.	0.999988247793601	0.93
18	43469908	A	C	18	45889943	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996137513181249	0.73
18	43469908	A	G	18	45889943	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.16495249586285E-5	0.002
18	43469908	A	T	18	45889943	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0645115186294692	0.374
18	43469909	A	C	18	45889944	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.24499144082061E-4	0.048
18	43469909	A	G	18	45889944	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.09388711305779E-5	0.03
18	43469909	A	T	18	45889944	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.50745926769041E-5	0.042
18	43469910	C	A	18	45889945	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.51690793232128E-5	0.134
18	43469910	C	G	18	45889945	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.988257107361E-5	0.02
18	43469910	C	T	18	45889945	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.8643549666191E-5	0.002
18	43469911	A	C	18	45889946	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0750614970009512	0.418
18	43469911	A	G	18	45889946	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.85678696721804E-5	0.026
18	43469911	A	T	18	45889946	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999675336037582	0.954
18	43469912	A	C	18	45889947	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00634961151285787	0.33
18	43469912	A	G	18	45889947	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.97890160501822E-5	0.026
18	43469912	A	T	18	45889947	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00515077392238158	0.306
18	43469913	A	C	18	45889948	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00128240650237787	0.11
18	43469913	A	G	18	45889948	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.34133927489095E-6	0.0
18	43469913	A	T	18	45889948	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00762149433153758	0.146
18	43469914	A	C	18	45889949	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00541139689421277	0.35
18	43469914	A	G	18	45889949	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.22655481176971E-4	0.004
18	43469914	A	T	18	45889949	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0623842465701554	0.348
18	43469915	A	C	18	45889950	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999915594680697	0.94
18	43469915	A	G	18	45889950	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.60404051811499E-4	0.168
18	43469915	A	T	18	45889950	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.393521003275189	0.55
18	43469916	T	A	18	45889951	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.05954616180561E-5	0.026
18	43469916	T	C	18	45889951	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.90058011026296	0.906
18	43469916	T	G	18	45889951	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.57020689455291E-6	0.0
18	43469917	T	A	18	45889952	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.32647695140948E-5	0.05
18	43469917	T	C	18	45889952	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.91920837907598E-5	0.022
18	43469917	T	G	18	45889952	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.502115608784E-5	0.002
18	43479361	A	C	18	45899396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.55989938170922E-5	0.0
18	43479361	A	G	18	45899396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.48293208623238E-5	0.0
18	43479361	A	T	18	45899396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.55989938170922E-5	0.0
18	43479362	C	A	18	45899397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.18924664478357E-5	0.0
18	43479362	C	G	18	45899397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.18924664478357E-5	0.0
18	43479362	C	T	18	45899397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.18924664478357E-5	0.0
18	43479363	A	C	18	45899398	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.83519908038E-5	0.158
18	43479363	A	G	18	45899398	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00181146798633452	0.282
18	43479363	A	T	18	45899398	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.67485824657687E-4	0.254
18	43479364	C	A	18	45899399	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.821047732783347	0.55
18	43479364	C	G	18	45899399	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.641147505942178	0.442
18	43479364	C	T	18	45899399	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.444555192708929	0.548
18	43479365	T	A	18	45899400	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0698433216152581	0.324
18	43479365	T	C	18	45899400	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.111974735098546	0.414
18	43479365	T	G	18	45899400	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0479028089657509	0.326
18	43479366	T	A	18	45899401	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.129450425949466	0.472
18	43479366	T	C	18	45899401	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.61588760335743E-4	0.056
18	43479366	T	G	18	45899401	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.204304066568891	0.496
18	43479367	A	C	18	45899402	y	y	splicing	EPG5(NM_020964:exon28:c.4809+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4809+2T>G;ENST00000587884:exon12:c.1560+2T>G;ENST00000590884:exon11:c.1434+2T>G;ENST00000592272:exon11:c.1434+2T>G)	.	.	0.99994568797423	0.948
18	43479367	A	G	18	45899402	y	y	splicing	EPG5(NM_020964:exon28:c.4809+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4809+2T>C;ENST00000587884:exon12:c.1560+2T>C;ENST00000590884:exon11:c.1434+2T>C;ENST00000592272:exon11:c.1434+2T>C)	.	.	0.948246690487968	0.694
18	43479367	A	T	18	45899402	y	y	splicing	EPG5(NM_020964:exon28:c.4809+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4809+2T>A;ENST00000587884:exon12:c.1560+2T>A;ENST00000590884:exon11:c.1434+2T>A;ENST00000592272:exon11:c.1434+2T>A)	.	.	0.99994568797423	0.944
18	43479368	C	A	18	45899403	y	y	splicing	EPG5(NM_020964:exon28:c.4809+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4809+1G>T;ENST00000587884:exon12:c.1560+1G>T;ENST00000590884:exon11:c.1434+1G>T;ENST00000592272:exon11:c.1434+1G>T)	.	.	0.99995545544995	0.944
18	43479368	C	G	18	45899403	y	y	splicing	EPG5(NM_020964:exon28:c.4809+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4809+1G>C;ENST00000587884:exon12:c.1560+1G>C;ENST00000590884:exon11:c.1434+1G>C;ENST00000592272:exon11:c.1434+1G>C)	.	.	0.99995545544995	0.944
18	43479368	C	T	18	45899403	y	y	splicing	EPG5(NM_020964:exon28:c.4809+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4809+1G>A;ENST00000587884:exon12:c.1560+1G>A;ENST00000590884:exon11:c.1434+1G>A;ENST00000592272:exon11:c.1434+1G>A)	.	.	0.99995545544995	0.938
18	43479369	C	A	18	45899404	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.G4809T:p.Q1603H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.G1434T:p.Q478H;ENSG00000152223:ENST00000282041:exon27:c.G4809T:p.Q1603H;ENSG00000152223:ENST00000590884:exon10:c.G1434T:p.Q478H;	0.693661282676919	0.4
18	43479369	C	G	18	45899404	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.G4809C:p.Q1603H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.G1434C:p.Q478H;ENSG00000152223:ENST00000282041:exon27:c.G4809C:p.Q1603H;ENSG00000152223:ENST00000590884:exon10:c.G1434C:p.Q478H;	0.429541529202851	0.458
18	43479369	C	T	18	45899404	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon27:c.G4809A:p.Q1603Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.G1434A:p.Q478Q;ENSG00000152223:ENST00000282041:exon27:c.G4809A:p.Q1603Q;ENSG00000152223:ENST00000590884:exon10:c.G1434A:p.Q478Q;	0.0204066290911826	0.34
18	43479370	T	A	18	45899405	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.A4808T:p.Q1603L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1433T:p.Q478L;ENSG00000152223:ENST00000282041:exon27:c.A4808T:p.Q1603L;ENSG00000152223:ENST00000590884:exon10:c.A1433T:p.Q478L;	0.974045585302079	0.646
18	43479370	T	C	18	45899405	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.A4808G:p.Q1603R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1433G:p.Q478R;ENSG00000152223:ENST00000282041:exon27:c.A4808G:p.Q1603R;ENSG00000152223:ENST00000590884:exon10:c.A1433G:p.Q478R;	0.849801539489551	0.508
18	43479370	T	G	18	45899405	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.A4808C:p.Q1603P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1433C:p.Q478P;ENSG00000152223:ENST00000282041:exon27:c.A4808C:p.Q1603P;ENSG00000152223:ENST00000590884:exon10:c.A1433C:p.Q478P;	0.99260903243954	0.704
18	43479371	G	A	18	45899406	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon27:c.C4807T:p.Q1603X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000592272:exon10:c.C1432T:p.Q478X;ENSG00000152223:ENST00000282041:exon27:c.C4807T:p.Q1603X;ENSG00000152223:ENST00000590884:exon10:c.C1432T:p.Q478X;	0.99875882519429	0.74
18	43479371	G	C	18	45899406	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.C4807G:p.Q1603E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.C1432G:p.Q478E;ENSG00000152223:ENST00000282041:exon27:c.C4807G:p.Q1603E;ENSG00000152223:ENST00000590884:exon10:c.C1432G:p.Q478E;	0.00579381610229949	0.112
18	43479371	G	T	18	45899406	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.C4807A:p.Q1603K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.C1432A:p.Q478K;ENSG00000152223:ENST00000282041:exon27:c.C4807A:p.Q1603K;ENSG00000152223:ENST00000590884:exon10:c.C1432A:p.Q478K;	0.007659836806307	0.136
18	43479530	T	A	18	45899565	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.A4648T:p.T1550S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1273T:p.T425S;ENSG00000152223:ENST00000282041:exon27:c.A4648T:p.T1550S;ENSG00000152223:ENST00000590884:exon10:c.A1273T:p.T425S;	6.82407796027485E-4	0.002
18	43479530	T	C	18	45899565	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.A4648G:p.T1550A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1273G:p.T425A;ENSG00000152223:ENST00000282041:exon27:c.A4648G:p.T1550A;ENSG00000152223:ENST00000590884:exon10:c.A1273G:p.T425A;	7.17410692919013E-4	0.012
18	43479530	T	G	18	45899565	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.A4648C:p.T1550P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1273C:p.T425P;ENSG00000152223:ENST00000282041:exon27:c.A4648C:p.T1550P;ENSG00000152223:ENST00000590884:exon10:c.A1273C:p.T425P;	0.0125988715789255	0.146
18	43479531	T	A	18	45899566	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.A4647T:p.R1549S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1272T:p.R424S;ENSG00000152223:ENST00000282041:exon27:c.A4647T:p.R1549S;ENSG00000152223:ENST00000590884:exon10:c.A1272T:p.R424S;	0.0853088099553559	0.296
18	43479531	T	C	18	45899566	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon27:c.A4647G:p.R1549R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1272G:p.R424R;ENSG00000152223:ENST00000282041:exon27:c.A4647G:p.R1549R;ENSG00000152223:ENST00000590884:exon10:c.A1272G:p.R424R;	2.86135420631405E-4	0.0
18	43479531	T	G	18	45899566	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon27:c.A4647C:p.R1549S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon10:c.A1272C:p.R424S;ENSG00000152223:ENST00000282041:exon27:c.A4647C:p.R1549S;ENSG00000152223:ENST00000590884:exon10:c.A1272C:p.R424S;	0.107885990071946	0.212
18	43479532	C	A	18	45899567	y	y	splicing	EPG5(NM_020964:exon28:c.4647-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4647-1G>T;ENST00000587884:exon12:c.1398-1G>T;ENST00000590884:exon11:c.1272-1G>T;ENST00000592272:exon11:c.1272-1G>T)	.	.	0.999990361384395	0.948
18	43479532	C	G	18	45899567	y	y	splicing	EPG5(NM_020964:exon28:c.4647-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4647-1G>C;ENST00000587884:exon12:c.1398-1G>C;ENST00000590884:exon11:c.1272-1G>C;ENST00000592272:exon11:c.1272-1G>C)	.	.	0.999990361384395	0.948
18	43479532	C	T	18	45899567	y	y	splicing	EPG5(NM_020964:exon28:c.4647-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4647-1G>A;ENST00000587884:exon12:c.1398-1G>A;ENST00000590884:exon11:c.1272-1G>A;ENST00000592272:exon11:c.1272-1G>A)	.	.	0.999990361384395	0.948
18	43479533	T	A	18	45899568	y	y	splicing	EPG5(NM_020964:exon28:c.4647-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4647-2A>T;ENST00000587884:exon12:c.1398-2A>T;ENST00000590884:exon11:c.1272-2A>T;ENST00000592272:exon11:c.1272-2A>T)	.	.	0.999986607513753	0.932
18	43479533	T	C	18	45899568	y	y	splicing	EPG5(NM_020964:exon28:c.4647-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4647-2A>G;ENST00000587884:exon12:c.1398-2A>G;ENST00000590884:exon11:c.1272-2A>G;ENST00000592272:exon11:c.1272-2A>G)	.	.	0.999986607513753	0.932
18	43479533	T	G	18	45899568	y	y	splicing	EPG5(NM_020964:exon28:c.4647-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon28:c.4647-2A>C;ENST00000587884:exon12:c.1398-2A>C;ENST00000590884:exon11:c.1272-2A>C;ENST00000592272:exon11:c.1272-2A>C)	.	.	0.999986607513753	0.932
18	43479534	G	A	18	45899569	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00531692723632347	0.032
18	43479534	G	C	18	45899569	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999932508137819	0.952
18	43479534	G	T	18	45899569	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.984650945345328	0.832
18	43479535	A	C	18	45899570	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.03583700486071E-4	0.022
18	43479535	A	G	18	45899570	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.47703705891283E-5	0.058
18	43479535	A	T	18	45899570	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.40849679591538E-5	0.01
18	43479536	A	C	18	45899571	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.945405324303198	0.696
18	43479536	A	G	18	45899571	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0153183129944304	0.258
18	43479536	A	T	18	45899571	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.972828424071442	0.622
18	43479537	A	C	18	45899572	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.989213348671689	0.81
18	43479537	A	G	18	45899572	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0011398821568608	0.092
18	43479537	A	T	18	45899572	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.974774984433965	0.83
18	43479538	A	C	18	45899573	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00839487178736663	0.126
18	43479538	A	G	18	45899573	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.86856138048855E-4	0.096
18	43479538	A	T	18	45899573	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00667960530401896	0.164
18	43479539	A	C	18	45899574	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.036029598105609	0.402
18	43479539	A	G	18	45899574	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.96018740347338E-4	0.026
18	43479539	A	T	18	45899574	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.439820285702828	0.514
18	43479540	C	A	18	45899575	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.93673614875791E-5	0.048
18	43479540	C	G	18	45899575	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.87985473601379E-5	0.026
18	43479540	C	T	18	45899575	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.71062001412408E-4	0.054
18	43479541	A	C	18	45899576	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999984564745922	0.97
18	43479541	A	G	18	45899576	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.735859429605628	0.462
18	43479541	A	T	18	45899576	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999992056514066	0.972
18	43479542	T	A	18	45899577	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.80653937495127E-5	0.164
18	43479542	T	C	18	45899577	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.35617277319401E-5	0.048
18	43479542	T	G	18	45899577	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.60047200986774E-5	0.054
18	43479543	C	A	18	45899578	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0638173749671119	0.236
18	43479543	C	G	18	45899578	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0731866322425127	0.256
18	43479543	C	T	18	45899578	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.178217941960988	0.36
18	43480953	G	A	18	45900988	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.29439534220341E-5	0.0
18	43480953	G	C	18	45900988	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.29439534220341E-5	0.0
18	43480953	G	T	18	45900988	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.29439534220341E-5	0.0
18	43480954	G	A	18	45900989	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.7284097447437E-5	0.004
18	43480954	G	C	18	45900989	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.1902582256924E-5	0.002
18	43480954	G	T	18	45900989	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.48038318268713E-5	0.012
18	43480955	T	A	18	45900990	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.8294201813502E-4	0.006
18	43480955	T	C	18	45900990	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.7257958036552E-4	0.008
18	43480955	T	G	18	45900990	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.24060723077975E-4	0.046
18	43480956	C	A	18	45900991	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.982695064811403	0.706
18	43480956	C	G	18	45900991	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.961603077206589	0.772
18	43480956	C	T	18	45900991	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.985231569806758	0.802
18	43480957	T	A	18	45900992	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0210606168301954	0.226
18	43480957	T	C	18	45900992	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.116827797989089	0.254
18	43480957	T	G	18	45900992	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0642521686190561	0.284
18	43480958	T	A	18	45900993	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.718001640139136	0.466
18	43480958	T	C	18	45900993	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.82592642113257E-4	0.016
18	43480958	T	G	18	45900993	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.763137002802993	0.552
18	43480959	A	C	18	45900994	y	y	splicing	EPG5(NM_020964:exon27:c.4646+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4646+2T>G;ENST00000587884:exon11:c.1397+2T>G;ENST00000590884:exon10:c.1271+2T>G;ENST00000592272:exon10:c.1271+2T>G)	.	.	0.999989917668626	0.928
18	43480959	A	G	18	45900994	y	y	splicing	EPG5(NM_020964:exon27:c.4646+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4646+2T>C;ENST00000587884:exon11:c.1397+2T>C;ENST00000590884:exon10:c.1271+2T>C;ENST00000592272:exon10:c.1271+2T>C)	.	.	0.991781671885672	0.622
18	43480959	A	T	18	45900994	y	y	splicing	EPG5(NM_020964:exon27:c.4646+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4646+2T>A;ENST00000587884:exon11:c.1397+2T>A;ENST00000590884:exon10:c.1271+2T>A;ENST00000592272:exon10:c.1271+2T>A)	.	.	0.999989917668626	0.928
18	43480960	C	A	18	45900995	y	y	splicing	EPG5(NM_020964:exon27:c.4646+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4646+1G>T;ENST00000587884:exon11:c.1397+1G>T;ENST00000590884:exon10:c.1271+1G>T;ENST00000592272:exon10:c.1271+1G>T)	.	.	0.999986675681007	0.934
18	43480960	C	G	18	45900995	y	y	splicing	EPG5(NM_020964:exon27:c.4646+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4646+1G>C;ENST00000587884:exon11:c.1397+1G>C;ENST00000590884:exon10:c.1271+1G>C;ENST00000592272:exon10:c.1271+1G>C)	.	.	0.999986675681007	0.934
18	43480960	C	T	18	45900995	y	y	splicing	EPG5(NM_020964:exon27:c.4646+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4646+1G>A;ENST00000587884:exon11:c.1397+1G>A;ENST00000590884:exon10:c.1271+1G>A;ENST00000592272:exon10:c.1271+1G>A)	.	.	0.999986675681007	0.934
18	43480961	C	A	18	45900996	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon26:c.G4646T:p.R1549I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.G1271T:p.R424I;ENSG00000152223:ENST00000282041:exon26:c.G4646T:p.R1549I;ENSG00000152223:ENST00000590884:exon9:c.G1271T:p.R424I;	0.999463461756445	0.944
18	43480961	C	G	18	45900996	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon26:c.G4646C:p.R1549T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.G1271C:p.R424T;ENSG00000152223:ENST00000282041:exon26:c.G4646C:p.R1549T;ENSG00000152223:ENST00000590884:exon9:c.G1271C:p.R424T;	0.999605861848824	0.926
18	43480961	C	T	18	45900996	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon26:c.G4646A:p.R1549K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.G1271A:p.R424K;ENSG00000152223:ENST00000282041:exon26:c.G4646A:p.R1549K;ENSG00000152223:ENST00000590884:exon9:c.G1271A:p.R424K;	0.934922386776973	0.71
18	43480962	T	A	18	45900997	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon26:c.A4645T:p.R1549X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000592272:exon9:c.A1270T:p.R424X;ENSG00000152223:ENST00000282041:exon26:c.A4645T:p.R1549X;ENSG00000152223:ENST00000590884:exon9:c.A1270T:p.R424X;	0.784539622331545	0.462
18	43480962	T	C	18	45900997	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon26:c.A4645G:p.R1549G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.A1270G:p.R424G;ENSG00000152223:ENST00000282041:exon26:c.A4645G:p.R1549G;ENSG00000152223:ENST00000590884:exon9:c.A1270G:p.R424G;	0.669400415537416	0.61
18	43480962	T	G	18	45900997	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon26:c.A4645C:p.R1549R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.A1270C:p.R424R;ENSG00000152223:ENST00000282041:exon26:c.A4645C:p.R1549R;ENSG00000152223:ENST00000590884:exon9:c.A1270C:p.R424R;	0.397932519974253	0.536
18	43480963	G	A	18	45900998	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon26:c.C4644T:p.A1548A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.C1269T:p.A423A;ENSG00000152223:ENST00000282041:exon26:c.C4644T:p.A1548A;ENSG00000152223:ENST00000590884:exon9:c.C1269T:p.A423A;	0.0568955224054057	0.206
18	43480963	G	C	18	45900998	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon26:c.C4644G:p.A1548A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.C1269G:p.A423A;ENSG00000152223:ENST00000282041:exon26:c.C4644G:p.A1548A;ENSG00000152223:ENST00000590884:exon9:c.C1269G:p.A423A;	0.00149004003355462	0.068
18	43480963	G	T	18	45900998	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon26:c.C4644A:p.A1548A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.C1269A:p.A423A;ENSG00000152223:ENST00000282041:exon26:c.C4644A:p.A1548A;ENSG00000152223:ENST00000590884:exon9:c.C1269A:p.A423A;	0.0018511178519736	0.046
18	43481131	A	C	18	45901166	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon26:c.T4476G:p.A1492A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.T1101G:p.A367A;ENSG00000152223:ENST00000282041:exon26:c.T4476G:p.A1492A;ENSG00000152223:ENST00000590884:exon9:c.T1101G:p.A367A;	9.69907518619303E-5	0.046
18	43481131	A	G	18	45901166	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon26:c.T4476C:p.A1492A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.T1101C:p.A367A;ENSG00000152223:ENST00000282041:exon26:c.T4476C:p.A1492A;ENSG00000152223:ENST00000590884:exon9:c.T1101C:p.A367A;	3.82459988919167E-4	0.088
18	43481131	A	T	18	45901166	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon26:c.T4476A:p.A1492A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.T1101A:p.A367A;ENSG00000152223:ENST00000282041:exon26:c.T4476A:p.A1492A;ENSG00000152223:ENST00000590884:exon9:c.T1101A:p.A367A;	5.79115813311065E-4	0.078
18	43481132	G	A	18	45901167	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon26:c.C4475T:p.A1492V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.C1100T:p.A367V;ENSG00000152223:ENST00000282041:exon26:c.C4475T:p.A1492V;ENSG00000152223:ENST00000590884:exon9:c.C1100T:p.A367V;	0.499905065166286	0.418
18	43481132	G	C	18	45901167	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon26:c.C4475G:p.A1492G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.C1100G:p.A367G;ENSG00000152223:ENST00000282041:exon26:c.C4475G:p.A1492G;ENSG00000152223:ENST00000590884:exon9:c.C1100G:p.A367G;	0.229712319521429	0.518
18	43481132	G	T	18	45901167	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon26:c.C4475A:p.A1492D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon9:c.C1100A:p.A367D;ENSG00000152223:ENST00000282041:exon26:c.C4475A:p.A1492D;ENSG00000152223:ENST00000590884:exon9:c.C1100A:p.A367D;	0.123006943735154	0.564
18	43481133	C	A	18	45901168	y	y	splicing	EPG5(NM_020964:exon27:c.4475-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4475-1G>T;ENST00000587884:exon11:c.1226-1G>T;ENST00000590884:exon10:c.1100-1G>T;ENST00000592272:exon10:c.1100-1G>T)	.	.	0.999986675681007	0.932
18	43481133	C	G	18	45901168	y	y	splicing	EPG5(NM_020964:exon27:c.4475-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4475-1G>C;ENST00000587884:exon11:c.1226-1G>C;ENST00000590884:exon10:c.1100-1G>C;ENST00000592272:exon10:c.1100-1G>C)	.	.	0.999986675681007	0.932
18	43481133	C	T	18	45901168	y	y	splicing	EPG5(NM_020964:exon27:c.4475-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4475-1G>A;ENST00000587884:exon11:c.1226-1G>A;ENST00000590884:exon10:c.1100-1G>A;ENST00000592272:exon10:c.1100-1G>A)	.	.	0.999986675681007	0.932
18	43481134	T	A	18	45901169	y	y	splicing	EPG5(NM_020964:exon27:c.4475-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4475-2A>T;ENST00000587884:exon11:c.1226-2A>T;ENST00000590884:exon10:c.1100-2A>T;ENST00000592272:exon10:c.1100-2A>T)	.	.	0.999981808176352	0.92
18	43481134	T	C	18	45901169	y	y	splicing	EPG5(NM_020964:exon27:c.4475-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4475-2A>G;ENST00000587884:exon11:c.1226-2A>G;ENST00000590884:exon10:c.1100-2A>G;ENST00000592272:exon10:c.1100-2A>G)	.	.	0.999981808176352	0.884
18	43481134	T	G	18	45901169	y	y	splicing	EPG5(NM_020964:exon27:c.4475-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon27:c.4475-2A>C;ENST00000587884:exon11:c.1226-2A>C;ENST00000590884:exon10:c.1100-2A>C;ENST00000592272:exon10:c.1100-2A>C)	.	.	0.999981808176352	0.91
18	43481135	G	A	18	45901170	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00206702060457613	0.074
18	43481135	G	C	18	45901170	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999585955654355	0.938
18	43481135	G	T	18	45901170	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.42354710530134	0.58
18	43481136	A	C	18	45901171	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.38383974538537E-4	0.016
18	43481136	A	G	18	45901171	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.04435086189889E-4	0.002
18	43481136	A	T	18	45901171	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.8012613190401E-4	0.002
18	43481137	A	C	18	45901172	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.918100783900776	0.714
18	43481137	A	G	18	45901172	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0174236726828257	0.146
18	43481137	A	T	18	45901172	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.972304391949562	0.772
18	43481138	A	C	18	45901173	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.752722863047446	0.638
18	43481138	A	G	18	45901173	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.63580818746197E-4	0.022
18	43481138	A	T	18	45901173	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.550175104312752	0.536
18	43481139	G	A	18	45901174	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.0383778419928E-4	0.014
18	43481139	G	C	18	45901174	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.05217131247139E-4	0.118
18	43481139	G	T	18	45901174	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00416101845943923	0.084
18	43481140	A	C	18	45901175	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0981756888208048	0.284
18	43481140	A	G	18	45901175	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.33778406179127E-4	0.0
18	43481140	A	T	18	45901175	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.184332580832696	0.284
18	43481141	A	C	18	45901176	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.640774317812881	0.526
18	43481141	A	G	18	45901176	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00359417269855177	0.078
18	43481141	A	T	18	45901176	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.909712898859834	0.556
18	43481142	A	C	18	45901177	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994197913148675	0.806
18	43481142	A	G	18	45901177	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0472435408461227	0.316
18	43481142	A	T	18	45901177	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997342332242405	0.86
18	43481143	A	C	18	45901178	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999855575365514	0.972
18	43481143	A	G	18	45901178	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0032552327922471	0.2
18	43481143	A	T	18	45901178	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.857840175966012	0.62
18	43481144	T	A	18	45901179	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.98779915007637E-5	0.0
18	43481144	T	C	18	45901179	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.935112544828398	0.914
18	43481144	T	G	18	45901179	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.89221396307207E-5	0.004
18	43483930	G	A	18	45903965	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.69428898311021E-5	0.042
18	43483930	G	C	18	45903965	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.69428898311021E-5	0.042
18	43483930	G	T	18	45903965	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.21399886532374E-5	0.03
18	43483931	G	A	18	45903966	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.43806286657759E-4	0.052
18	43483931	G	C	18	45903966	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.75224054890354E-4	0.036
18	43483931	G	T	18	45903966	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.39123983253717E-5	0.006
18	43483932	A	C	18	45903967	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.922793041382577	0.614
18	43483932	A	G	18	45903967	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0527548278455809	0.362
18	43483932	A	T	18	45903967	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.953510090151789	0.546
18	43483933	C	A	18	45903968	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999987900629343	0.99
18	43483933	C	G	18	45903968	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999988080502626	0.982
18	43483933	C	T	18	45903968	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999990672070337	0.998
18	43483934	C	A	18	45903969	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.56684201239913E-4	0.068
18	43483934	C	G	18	45903969	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.18161784923812E-4	0.168
18	43483934	C	T	18	45903969	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.74470669713975E-5	0.026
18	43483935	C	A	18	45903970	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999578087284448	0.744
18	43483935	C	G	18	45903970	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999537567064401	0.784
18	43483935	C	T	18	45903970	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00257894395378701	0.112
18	43483936	A	C	18	45903971	y	y	splicing	EPG5(NM_020964:exon26:c.4474+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4474+2T>G;ENST00000587884:exon10:c.1225+2T>G;ENST00000590884:exon9:c.1099+2T>G;ENST00000592272:exon9:c.1099+2T>G)	.	.	0.999983459627143	0.94
18	43483936	A	G	18	45903971	y	y	splicing	EPG5(NM_020964:exon26:c.4474+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4474+2T>C;ENST00000587884:exon10:c.1225+2T>C;ENST00000590884:exon9:c.1099+2T>C;ENST00000592272:exon9:c.1099+2T>C)	.	.	0.999958383362189	0.882
18	43483936	A	T	18	45903971	y	y	splicing	EPG5(NM_020964:exon26:c.4474+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4474+2T>A;ENST00000587884:exon10:c.1225+2T>A;ENST00000590884:exon9:c.1099+2T>A;ENST00000592272:exon9:c.1099+2T>A)	.	.	0.999990764389106	0.942
18	43483937	C	A	18	45903972	y	y	splicing	EPG5(NM_020964:exon26:c.4474+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4474+1G>T;ENST00000587884:exon10:c.1225+1G>T;ENST00000590884:exon9:c.1099+1G>T;ENST00000592272:exon9:c.1099+1G>T)	.	.	0.999986434340258	0.94
18	43483937	C	G	18	45903972	y	y	splicing	EPG5(NM_020964:exon26:c.4474+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4474+1G>C;ENST00000587884:exon10:c.1225+1G>C;ENST00000590884:exon9:c.1099+1G>C;ENST00000592272:exon9:c.1099+1G>C)	.	.	0.999986434340258	0.94
18	43483937	C	T	18	45903972	y	y	splicing	EPG5(NM_020964:exon26:c.4474+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4474+1G>A;ENST00000587884:exon10:c.1225+1G>A;ENST00000590884:exon9:c.1099+1G>A;ENST00000592272:exon9:c.1099+1G>A)	.	.	0.999992425382947	0.942
18	43483938	C	A	18	45903973	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.G4474T:p.A1492S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G1099T:p.A367S;ENSG00000152223:ENST00000282041:exon25:c.G4474T:p.A1492S;ENSG00000152223:ENST00000590884:exon8:c.G1099T:p.A367S;	0.999993780042005	1.0
18	43483938	C	G	18	45903973	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.G4474C:p.A1492P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G1099C:p.A367P;ENSG00000152223:ENST00000282041:exon25:c.G4474C:p.A1492P;ENSG00000152223:ENST00000590884:exon8:c.G1099C:p.A367P;	0.999996192829105	1.0
18	43483938	C	T	18	45903973	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.G4474A:p.A1492T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G1099A:p.A367T;ENSG00000152223:ENST00000282041:exon25:c.G4474A:p.A1492T;ENSG00000152223:ENST00000590884:exon8:c.G1099A:p.A367T;	0.999996843325277	0.994
18	43483939	C	A	18	45903974	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon25:c.G4473T:p.L1491L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G1098T:p.L366L;ENSG00000152223:ENST00000282041:exon25:c.G4473T:p.L1491L;ENSG00000152223:ENST00000590884:exon8:c.G1098T:p.L366L;	0.00382099018783739	0.148
18	43483939	C	G	18	45903974	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon25:c.G4473C:p.L1491L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G1098C:p.L366L;ENSG00000152223:ENST00000282041:exon25:c.G4473C:p.L1491L;ENSG00000152223:ENST00000590884:exon8:c.G1098C:p.L366L;	0.00326526435349794	0.108
18	43483939	C	T	18	45903974	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon25:c.G4473A:p.L1491L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G1098A:p.L366L;ENSG00000152223:ENST00000282041:exon25:c.G4473A:p.L1491L;ENSG00000152223:ENST00000590884:exon8:c.G1098A:p.L366L;	0.00174146237984978	0.118
18	43483940	A	C	18	45903975	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.T4472G:p.L1491R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.T1097G:p.L366R;ENSG00000152223:ENST00000282041:exon25:c.T4472G:p.L1491R;ENSG00000152223:ENST00000590884:exon8:c.T1097G:p.L366R;	0.0186493630999189	0.162
18	43483940	A	G	18	45903975	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.T4472C:p.L1491P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.T1097C:p.L366P;ENSG00000152223:ENST00000282041:exon25:c.T4472C:p.L1491P;ENSG00000152223:ENST00000590884:exon8:c.T1097C:p.L366P;	6.96651033566261E-4	0.026
18	43483940	A	T	18	45903975	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.T4472A:p.L1491Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.T1097A:p.L366Q;ENSG00000152223:ENST00000282041:exon25:c.T4472A:p.L1491Q;ENSG00000152223:ENST00000590884:exon8:c.T1097A:p.L366Q;	0.0796461999904383	0.324
18	43484081	T	A	18	45904116	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.A4331T:p.D1444V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.A956T:p.D319V;ENSG00000152223:ENST00000282041:exon25:c.A4331T:p.D1444V;ENSG00000152223:ENST00000590884:exon8:c.A956T:p.D319V;	0.850440288761293	0.62
18	43484081	T	C	18	45904116	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.A4331G:p.D1444G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.A956G:p.D319G;ENSG00000152223:ENST00000282041:exon25:c.A4331G:p.D1444G;ENSG00000152223:ENST00000590884:exon8:c.A956G:p.D319G;	0.893114801498599	0.65
18	43484081	T	G	18	45904116	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.A4331C:p.D1444A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.A956C:p.D319A;ENSG00000152223:ENST00000282041:exon25:c.A4331C:p.D1444A;ENSG00000152223:ENST00000590884:exon8:c.A956C:p.D319A;	0.885137417751065	0.672
18	43484082	C	A	18	45904117	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.G4330T:p.D1444Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G955T:p.D319Y;ENSG00000152223:ENST00000282041:exon25:c.G4330T:p.D1444Y;ENSG00000152223:ENST00000590884:exon8:c.G955T:p.D319Y;	0.999838352731662	0.988
18	43484082	C	G	18	45904117	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.G4330C:p.D1444H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G955C:p.D319H;ENSG00000152223:ENST00000282041:exon25:c.G4330C:p.D1444H;ENSG00000152223:ENST00000590884:exon8:c.G955C:p.D319H;	0.999789786405739	0.988
18	43484082	C	T	18	45904117	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon25:c.G4330A:p.D1444N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000592272:exon8:c.G955A:p.D319N;ENSG00000152223:ENST00000282041:exon25:c.G4330A:p.D1444N;ENSG00000152223:ENST00000590884:exon8:c.G955A:p.D319N;	0.998763809879842	0.932
18	43484083	C	A	18	45904118	y	y	splicing	EPG5(NM_020964:exon26:c.4330-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4330-1G>T;ENST00000587884:exon10:c.1081-1G>T;ENST00000590884:exon9:c.955-1G>T;ENST00000592272:exon9:c.955-1G>T)	.	.	0.999989072007339	0.932
18	43484083	C	G	18	45904118	y	y	splicing	EPG5(NM_020964:exon26:c.4330-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4330-1G>C;ENST00000587884:exon10:c.1081-1G>C;ENST00000590884:exon9:c.955-1G>C;ENST00000592272:exon9:c.955-1G>C)	.	.	0.999989072007339	0.932
18	43484083	C	T	18	45904118	y	y	splicing	EPG5(NM_020964:exon26:c.4330-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4330-1G>A;ENST00000587884:exon10:c.1081-1G>A;ENST00000590884:exon9:c.955-1G>A;ENST00000592272:exon9:c.955-1G>A)	.	.	0.999989072007339	0.934
18	43484084	T	A	18	45904119	y	y	splicing	EPG5(NM_020964:exon26:c.4330-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4330-2A>T;ENST00000587884:exon10:c.1081-2A>T;ENST00000590884:exon9:c.955-2A>T;ENST00000592272:exon9:c.955-2A>T)	.	.	0.999988247793601	0.928
18	43484084	T	C	18	45904119	y	y	splicing	EPG5(NM_020964:exon26:c.4330-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4330-2A>G;ENST00000587884:exon10:c.1081-2A>G;ENST00000590884:exon9:c.955-2A>G;ENST00000592272:exon9:c.955-2A>G)	.	.	0.999988247793601	0.926
18	43484084	T	G	18	45904119	y	y	splicing	EPG5(NM_020964:exon26:c.4330-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon26:c.4330-2A>C;ENST00000587884:exon10:c.1081-2A>C;ENST00000590884:exon9:c.955-2A>C;ENST00000592272:exon9:c.955-2A>C)	.	.	0.999988247793601	0.922
18	43484085	G	A	18	45904120	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.86785241525845E-4	0.026
18	43484085	G	C	18	45904120	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.927538356826	0.758
18	43484085	G	T	18	45904120	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.057097336039196	0.41
18	43484086	A	C	18	45904121	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.44126522383235E-5	0.0
18	43484086	A	G	18	45904121	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.80922550508144E-5	0.006
18	43484086	A	T	18	45904121	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.65407515360357E-5	0.002
18	43484087	A	C	18	45904122	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.787368683382633	0.484
18	43484087	A	G	18	45904122	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0759311474832942	0.22
18	43484087	A	T	18	45904122	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.688548744464456	0.422
18	43484088	A	C	18	45904123	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.465531252584817	0.396
18	43484088	A	G	18	45904123	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.76899478959156E-4	0.122
18	43484088	A	T	18	45904123	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.441606880835869	0.374
18	43484089	C	A	18	45904124	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.21402430950251E-5	0.0
18	43484089	C	G	18	45904124	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.15285326293925E-5	0.004
18	43484089	C	T	18	45904124	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.68652967366366E-5	0.012
18	43484090	A	C	18	45904125	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.26131164782988E-4	0.036
18	43484090	A	G	18	45904125	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.37091873213545E-5	0.004
18	43484090	A	T	18	45904125	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995549358781297	0.908
18	43484091	G	A	18	45904126	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.12312823357479E-4	0.014
18	43484091	G	C	18	45904126	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00469305445435413	0.1
18	43484091	G	T	18	45904126	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0131090499255116	0.108
18	43484092	A	C	18	45904127	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0214592088568647	0.32
18	43484092	A	G	18	45904127	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.27004185816553E-4	0.096
18	43484092	A	T	18	45904127	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0339904986631316	0.286
18	43484093	A	C	18	45904128	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.874739418243248	0.594
18	43484093	A	G	18	45904128	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00745087813791004	0.188
18	43484093	A	T	18	45904128	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.643204418533882	0.622
18	43484094	C	A	18	45904129	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.79460626224071E-5	0.0
18	43484094	C	G	18	45904129	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.82921115014725E-5	0.0
18	43484094	C	T	18	45904129	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.76843173065213E-5	0.0
18	43487121	A	C	18	45907156	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.82254846753964E-4	0.002
18	43487121	A	G	18	45907156	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.82254846753964E-4	0.002
18	43487121	A	T	18	45907156	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.82254846753964E-4	0.004
18	43487122	C	A	18	45907157	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.38902716199852E-4	0.006
18	43487122	C	G	18	45907157	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.38902716199852E-4	0.004
18	43487122	C	T	18	45907157	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.73186234223837E-5	0.02
18	43487123	A	C	18	45907158	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00358875693255834	0.032
18	43487123	A	G	18	45907158	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00358875693255834	0.03
18	43487123	A	T	18	45907158	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00441569569744403	0.036
18	43487124	C	A	18	45907159	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.17296494036876E-4	0.0
18	43487124	C	G	18	45907159	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.51784750636518E-4	0.0
18	43487124	C	T	18	45907159	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.47952223173846E-4	0.0
18	43487125	C	A	18	45907160	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00296047452933948	0.066
18	43487125	C	G	18	45907160	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00296047452933948	0.04
18	43487125	C	T	18	45907160	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00507812376669703	0.036
18	43487126	T	A	18	45907161	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.56878239719511E-4	0.008
18	43487126	T	C	18	45907161	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.67894152125472E-4	0.004
18	43487126	T	G	18	45907161	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.67894152125472E-4	0.004
18	43487127	A	C	18	45907162	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.1080+2T>G)	.	.	0.00403195965499054	0.034
18	43487127	A	G	18	45907162	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.1080+2T>C)	.	.	0.00403195965499054	0.034
18	43487127	A	T	18	45907162	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.1080+2T>A)	.	.	0.00358875693255834	0.032
18	43487128	C	A	18	45907163	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.1080+1G>T)	.	.	6.84594935755628E-5	0.0
18	43487128	C	G	18	45907163	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.1080+1G>C)	.	.	1.24425137694629E-4	0.0
18	43487128	C	T	18	45907163	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.1080+1G>A)	.	.	6.84594935755628E-5	0.0
18	43487129	T	A	18	45907164	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	3.11294476992579E-4	0.006
18	43487129	T	C	18	45907164	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	2.30732663104013E-4	0.006
18	43487129	T	G	18	45907164	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	2.30732663104013E-4	0.006
18	43487130	G	A	18	45907165	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	7.30127177594752E-5	0.012
18	43487130	G	C	18	45907165	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	6.27477746119029E-5	0.002
18	43487130	G	T	18	45907165	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	6.27477746119029E-5	0.002
18	43487131	G	A	18	45907166	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	4.4471649152377E-4	0.032
18	43487131	G	C	18	45907166	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	3.43189514765741E-4	0.032
18	43487131	G	T	18	45907166	n	y	intronic	EPG5	.	.	UTR3	ENSG00000152223	.	.	3.43189514765741E-4	0.032
18	43487253	C	A	18	45907288	n	y	intronic	EPG5	.	.	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon8:c.G956T:p.G319V;	3.00286289604843E-5	0.0
18	43487253	C	G	18	45907288	n	y	intronic	EPG5	.	.	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon8:c.G956C:p.G319A;	3.00286289604843E-5	0.0
18	43487253	C	T	18	45907288	n	y	intronic	EPG5	.	.	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon8:c.G956A:p.G319D;	3.00286289604843E-5	0.0
18	43487254	C	A	18	45907289	n	y	intronic	EPG5	.	.	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon8:c.G955T:p.G319C;	7.10138825602451E-5	0.002
18	43487254	C	G	18	45907289	n	y	intronic	EPG5	.	.	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon8:c.G955C:p.G319R;	7.10138825602451E-5	0.002
18	43487254	C	T	18	45907289	n	y	intronic	EPG5	.	.	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon8:c.G955A:p.G319S;	7.10138825602451E-5	0.002
18	43487255	C	A	18	45907290	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.955-1G>T)	.	.	2.45277156108894E-5	0.0
18	43487255	C	G	18	45907290	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.955-1G>C)	.	.	2.45277156108894E-5	0.0
18	43487255	C	T	18	45907290	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.955-1G>A)	.	.	3.78864525412067E-5	0.0
18	43487256	T	A	18	45907291	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.955-2A>T)	.	.	1.95242954520313E-5	0.004
18	43487256	T	C	18	45907291	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.955-2A>G)	.	.	2.61085043127738E-5	0.006
18	43487256	T	G	18	45907291	n	y	intronic	EPG5	.	.	splicing	ENSG00000152223(ENST00000587884:exon9:c.955-2A>C)	.	.	2.61085043127738E-5	0.006
18	43487257	A	C	18	45907292	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.68622737106591E-5	0.002
18	43487257	A	G	18	45907292	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.68622737106591E-5	0.004
18	43487257	A	T	18	45907292	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.68622737106591E-5	0.002
18	43487258	G	A	18	45907293	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.05991138181789E-5	0.018
18	43487258	G	C	18	45907293	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.55183766894313E-5	0.014
18	43487258	G	T	18	45907293	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.05991138181789E-5	0.02
18	43487259	A	C	18	45907294	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.32865970446788E-5	0.0
18	43487259	A	G	18	45907294	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.32865970446788E-5	0.0
18	43487259	A	T	18	45907294	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.58662744131228E-5	0.0
18	43487260	A	C	18	45907295	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.7586829694842E-5	0.004
18	43487260	A	G	18	45907295	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.7586829694842E-5	0.004
18	43487260	A	T	18	45907295	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.7586829694842E-5	0.0
18	43487261	A	C	18	45907296	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.96304298361906E-5	0.002
18	43487261	A	G	18	45907296	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.56567834969361E-5	0.002
18	43487261	A	T	18	45907296	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.96304298361906E-5	0.002
18	43487262	A	C	18	45907297	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.1877777554816E-5	0.0
18	43487262	A	G	18	45907297	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.1877777554816E-5	0.0
18	43487262	A	T	18	45907297	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.1877777554816E-5	0.0
18	43487263	A	C	18	45907298	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.75977724881531E-5	0.018
18	43487263	A	G	18	45907298	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.75977724881531E-5	0.018
18	43487263	A	T	18	45907298	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.23699594804022E-4	0.018
18	43487264	A	C	18	45907299	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.07620641825897E-5	0.0
18	43487264	A	G	18	45907299	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.07620641825897E-5	0.0
18	43487264	A	T	18	45907299	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.31929338280547E-5	0.004
18	43487265	A	C	18	45907300	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.455930068921E-5	0.006
18	43487265	A	G	18	45907300	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.455930068921E-5	0.006
18	43487265	A	T	18	45907300	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.2679318409745E-5	0.006
18	43487266	A	C	18	45907301	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.78205327723092E-5	0.006
18	43487266	A	G	18	45907301	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.31929338280547E-5	0.004
18	43487266	A	T	18	45907301	n	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.89925739660516E-5	0.004
18	43487915	A	C	18	45907950	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.93589082758805E-5	0.004
18	43487915	A	G	18	45907950	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.85940547665508E-4	0.008
18	43487915	A	T	18	45907950	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.29405757193836E-5	0.0
18	43487916	A	C	18	45907951	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.8384721484698E-5	0.0
18	43487916	A	G	18	45907951	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.8384721484698E-5	0.0
18	43487916	A	T	18	45907951	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.8384721484698E-5	0.0
18	43487917	T	A	18	45907952	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.74895403368649E-5	0.002
18	43487917	T	C	18	45907952	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.41621065937886E-5	0.068
18	43487917	T	G	18	45907952	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.21260505560451E-4	0.04
18	43487918	T	A	18	45907953	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.92998392770476E-4	0.018
18	43487918	T	C	18	45907953	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.89901391783687E-5	0.002
18	43487918	T	G	18	45907953	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.07728986819349E-5	0.014
18	43487919	T	A	18	45907954	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99534465953013	0.83
18	43487919	T	C	18	45907954	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.993779727186576	0.866
18	43487919	T	G	18	45907954	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.985397256482689	0.662
18	43487920	C	A	18	45907955	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.569580508158952	0.562
18	43487920	C	G	18	45907955	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.62931548814205	0.57
18	43487920	C	T	18	45907955	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.36200008656266E-4	0.13
18	43487921	A	C	18	45907956	y	y	splicing	EPG5(NM_020964:exon25:c.4329+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4329+2T>G;ENST00000587884:exon8:c.954+2T>G;ENST00000590884:exon8:c.954+2T>G;ENST00000592272:exon8:c.954+2T>G)	.	.	0.999986741007567	0.946
18	43487921	A	G	18	45907956	y	y	splicing	EPG5(NM_020964:exon25:c.4329+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4329+2T>C;ENST00000587884:exon8:c.954+2T>C;ENST00000590884:exon8:c.954+2T>C;ENST00000592272:exon8:c.954+2T>C)	.	.	0.999943745774914	0.884
18	43487921	A	T	18	45907956	y	y	splicing	EPG5(NM_020964:exon25:c.4329+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4329+2T>A;ENST00000587884:exon8:c.954+2T>A;ENST00000590884:exon8:c.954+2T>A;ENST00000592272:exon8:c.954+2T>A)	.	.	0.999986741007567	0.946
18	43487922	C	A	18	45907957	y	y	splicing	EPG5(NM_020964:exon25:c.4329+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4329+1G>T;ENST00000587884:exon8:c.954+1G>T;ENST00000590884:exon8:c.954+1G>T;ENST00000592272:exon8:c.954+1G>T)	.	.	0.999989125585301	0.944
18	43487922	C	G	18	45907957	y	y	splicing	EPG5(NM_020964:exon25:c.4329+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4329+1G>C;ENST00000587884:exon8:c.954+1G>C;ENST00000590884:exon8:c.954+1G>C;ENST00000592272:exon8:c.954+1G>C)	.	.	0.999989125585301	0.944
18	43487922	C	T	18	45907957	y	y	splicing	EPG5(NM_020964:exon25:c.4329+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4329+1G>A;ENST00000587884:exon8:c.954+1G>A;ENST00000590884:exon8:c.954+1G>A;ENST00000592272:exon8:c.954+1G>A)	.	.	0.999989125585301	0.944
18	43487923	C	A	18	45907958	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.G4329T:p.Q1443H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.G954T:p.Q318H;ENSG00000152223:ENST00000592272:exon7:c.G954T:p.Q318H;ENSG00000152223:ENST00000282041:exon24:c.G4329T:p.Q1443H;ENSG00000152223:ENST00000590884:exon7:c.G954T:p.Q318H;	0.999993780042005	0.998
18	43487923	C	G	18	45907958	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.G4329C:p.Q1443H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.G954C:p.Q318H;ENSG00000152223:ENST00000592272:exon7:c.G954C:p.Q318H;ENSG00000152223:ENST00000282041:exon24:c.G4329C:p.Q1443H;ENSG00000152223:ENST00000590884:exon7:c.G954C:p.Q318H;	0.999997304458277	1.0
18	43487923	C	T	18	45907958	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon24:c.G4329A:p.Q1443Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.G954A:p.Q318Q;ENSG00000152223:ENST00000592272:exon7:c.G954A:p.Q318Q;ENSG00000152223:ENST00000282041:exon24:c.G4329A:p.Q1443Q;ENSG00000152223:ENST00000590884:exon7:c.G954A:p.Q318Q;	0.99998597468622	0.994
18	43487924	T	A	18	45907959	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.A4328T:p.Q1443L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.A953T:p.Q318L;ENSG00000152223:ENST00000592272:exon7:c.A953T:p.Q318L;ENSG00000152223:ENST00000282041:exon24:c.A4328T:p.Q1443L;ENSG00000152223:ENST00000590884:exon7:c.A953T:p.Q318L;	0.999961688356013	0.996
18	43487924	T	C	18	45907959	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.A4328G:p.Q1443R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.A953G:p.Q318R;ENSG00000152223:ENST00000592272:exon7:c.A953G:p.Q318R;ENSG00000152223:ENST00000282041:exon24:c.A4328G:p.Q1443R;ENSG00000152223:ENST00000590884:exon7:c.A953G:p.Q318R;	0.999973529160251	0.998
18	43487924	T	G	18	45907959	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.A4328C:p.Q1443P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.A953C:p.Q318P;ENSG00000152223:ENST00000592272:exon7:c.A953C:p.Q318P;ENSG00000152223:ENST00000282041:exon24:c.A4328C:p.Q1443P;ENSG00000152223:ENST00000590884:exon7:c.A953C:p.Q318P;	0.999929266817953	0.994
18	43487925	G	A	18	45907960	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon24:c.C4327T:p.Q1443X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000587884:exon7:c.C952T:p.Q318X;ENSG00000152223:ENST00000592272:exon7:c.C952T:p.Q318X;ENSG00000152223:ENST00000282041:exon24:c.C4327T:p.Q1443X;ENSG00000152223:ENST00000590884:exon7:c.C952T:p.Q318X;	0.999907096407121	0.992
18	43487925	G	C	18	45907960	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.C4327G:p.Q1443E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.C952G:p.Q318E;ENSG00000152223:ENST00000592272:exon7:c.C952G:p.Q318E;ENSG00000152223:ENST00000282041:exon24:c.C4327G:p.Q1443E;ENSG00000152223:ENST00000590884:exon7:c.C952G:p.Q318E;	0.992356918612116	0.734
18	43487925	G	T	18	45907960	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.C4327A:p.Q1443K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.C952A:p.Q318K;ENSG00000152223:ENST00000592272:exon7:c.C952A:p.Q318K;ENSG00000152223:ENST00000282041:exon24:c.C4327A:p.Q1443K;ENSG00000152223:ENST00000590884:exon7:c.C952A:p.Q318K;	0.945179090304408	0.66
18	43488045	G	A	18	45908080	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.C4207T:p.L1403F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.C832T:p.L278F;ENSG00000152223:ENST00000592272:exon7:c.C832T:p.L278F;ENSG00000152223:ENST00000282041:exon24:c.C4207T:p.L1403F;ENSG00000152223:ENST00000590884:exon7:c.C832T:p.L278F;	0.980850544964001	0.834
18	43488045	G	C	18	45908080	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.C4207G:p.L1403V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.C832G:p.L278V;ENSG00000152223:ENST00000592272:exon7:c.C832G:p.L278V;ENSG00000152223:ENST00000282041:exon24:c.C4207G:p.L1403V;ENSG00000152223:ENST00000590884:exon7:c.C832G:p.L278V;	0.991090637571429	0.672
18	43488045	G	T	18	45908080	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.C4207A:p.L1403I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.C832A:p.L278I;ENSG00000152223:ENST00000592272:exon7:c.C832A:p.L278I;ENSG00000152223:ENST00000282041:exon24:c.C4207A:p.L1403I;ENSG00000152223:ENST00000590884:exon7:c.C832A:p.L278I;	0.994463269283841	0.834
18	43488046	C	A	18	45908081	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.G4206T:p.R1402S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.G831T:p.R277S;ENSG00000152223:ENST00000592272:exon7:c.G831T:p.R277S;ENSG00000152223:ENST00000282041:exon24:c.G4206T:p.R1402S;ENSG00000152223:ENST00000590884:exon7:c.G831T:p.R277S;	0.82013031368669	0.654
18	43488046	C	G	18	45908081	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon24:c.G4206C:p.R1402S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.G831C:p.R277S;ENSG00000152223:ENST00000592272:exon7:c.G831C:p.R277S;ENSG00000152223:ENST00000282041:exon24:c.G4206C:p.R1402S;ENSG00000152223:ENST00000590884:exon7:c.G831C:p.R277S;	0.228905895238903	0.626
18	43488046	C	T	18	45908081	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon24:c.G4206A:p.R1402R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon7:c.G831A:p.R277R;ENSG00000152223:ENST00000592272:exon7:c.G831A:p.R277R;ENSG00000152223:ENST00000282041:exon24:c.G4206A:p.R1402R;ENSG00000152223:ENST00000590884:exon7:c.G831A:p.R277R;	0.00393833381836828	0.184
18	43488047	C	A	18	45908082	y	y	splicing	EPG5(NM_020964:exon25:c.4206-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4206-1G>T;ENST00000587884:exon8:c.831-1G>T;ENST00000590884:exon8:c.831-1G>T;ENST00000592272:exon8:c.831-1G>T)	.	.	0.999990361384395	0.938
18	43488047	C	G	18	45908082	y	y	splicing	EPG5(NM_020964:exon25:c.4206-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4206-1G>C;ENST00000587884:exon8:c.831-1G>C;ENST00000590884:exon8:c.831-1G>C;ENST00000592272:exon8:c.831-1G>C)	.	.	0.999990361384395	0.938
18	43488047	C	T	18	45908082	y	y	splicing	EPG5(NM_020964:exon25:c.4206-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4206-1G>A;ENST00000587884:exon8:c.831-1G>A;ENST00000590884:exon8:c.831-1G>A;ENST00000592272:exon8:c.831-1G>A)	.	.	0.999990361384395	0.938
18	43488048	T	A	18	45908083	y	y	splicing	EPG5(NM_020964:exon25:c.4206-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4206-2A>T;ENST00000587884:exon8:c.831-2A>T;ENST00000590884:exon8:c.831-2A>T;ENST00000592272:exon8:c.831-2A>T)	.	.	0.999988247793601	0.932
18	43488048	T	C	18	45908083	y	y	splicing	EPG5(NM_020964:exon25:c.4206-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4206-2A>G;ENST00000587884:exon8:c.831-2A>G;ENST00000590884:exon8:c.831-2A>G;ENST00000592272:exon8:c.831-2A>G)	.	.	0.999988247793601	0.932
18	43488048	T	G	18	45908083	y	y	splicing	EPG5(NM_020964:exon25:c.4206-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon25:c.4206-2A>C;ENST00000587884:exon8:c.831-2A>C;ENST00000590884:exon8:c.831-2A>C;ENST00000592272:exon8:c.831-2A>C)	.	.	0.999988247793601	0.932
18	43488049	A	C	18	45908084	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.913020718441962	0.626
18	43488049	A	G	18	45908084	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.44581918613625E-5	0.012
18	43488049	A	T	18	45908084	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0328589105728731	0.248
18	43488050	A	C	18	45908085	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.99833441185705E-4	0.022
18	43488050	A	G	18	45908085	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.65893877874252E-4	0.008
18	43488050	A	T	18	45908085	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00228531423495186	0.026
18	43488051	A	C	18	45908086	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.221196398365582	0.562
18	43488051	A	G	18	45908086	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0484354661560601	0.346
18	43488051	A	T	18	45908086	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.398590008531549	0.638
18	43488052	A	C	18	45908087	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0194244094745349	0.104
18	43488052	A	G	18	45908087	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.881215993108E-4	0.002
18	43488052	A	T	18	45908087	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0189873145333891	0.09
18	43488053	G	A	18	45908088	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00258178864948251	0.102
18	43488053	G	C	18	45908088	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00415392649492202	0.096
18	43488053	G	T	18	45908088	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0130125136308713	0.15
18	43488054	A	C	18	45908089	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998653423205267	0.932
18	43488054	A	G	18	45908089	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00117292262091928	0.03
18	43488054	A	T	18	45908089	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00408957843673935	0.08
18	43488055	T	A	18	45908090	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.27035904847805E-5	0.074
18	43488055	T	C	18	45908090	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.50779661465528E-5	0.048
18	43488055	T	G	18	45908090	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.32982196100552E-5	0.082
18	43488056	A	C	18	45908091	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.862720432935434	0.61
18	43488056	A	G	18	45908091	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.437736520293095	0.508
18	43488056	A	T	18	45908091	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.910170744072298	0.634
18	43488057	A	C	18	45908092	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0137822966957957	0.24
18	43488057	A	G	18	45908092	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0066429408415299	0.106
18	43488057	A	T	18	45908092	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0168884396098391	0.334
18	43488058	A	C	18	45908093	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00405130072893177	0.218
18	43488058	A	G	18	45908093	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00175719408242334	0.098
18	43488058	A	T	18	45908093	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00595833545864372	0.256
18	43490478	A	C	18	45910513	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.04821762665085E-5	0.002
18	43490478	A	G	18	45910513	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.15941453541388E-5	0.002
18	43490478	A	T	18	45910513	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.04821762665085E-5	0.002
18	43490479	T	A	18	45910514	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.44944725075161E-5	0.0
18	43490479	T	C	18	45910514	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.14973724523395E-5	0.0
18	43490479	T	G	18	45910514	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.11495752684451E-5	0.0
18	43490480	A	C	18	45910515	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.41027813675635E-4	0.054
18	43490480	A	G	18	45910515	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.62789618141857E-4	0.064
18	43490480	A	T	18	45910515	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.88186021964093E-4	0.074
18	43490481	C	A	18	45910516	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998103165963051	0.634
18	43490481	C	G	18	45910516	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.991536598428394	0.616
18	43490481	C	T	18	45910516	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.990912391428575	0.642
18	43490482	T	A	18	45910517	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.814184757487808	0.476
18	43490482	T	C	18	45910517	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.617959884525255	0.492
18	43490482	T	G	18	45910517	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0582430381934811	0.372
18	43490483	C	A	18	45910518	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.264601560291071	0.484
18	43490483	C	G	18	45910518	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.158187538458708	0.422
18	43490483	C	T	18	45910518	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.73915406855445E-4	0.01
18	43490484	A	C	18	45910519	y	y	splicing	EPG5(NM_020964:exon24:c.4205+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.4205+2T>G;ENST00000587884:exon7:c.830+2T>G;ENST00000590884:exon7:c.830+2T>G;ENST00000592272:exon7:c.830+2T>G)	.	.	0.999988247793601	0.928
18	43490484	A	G	18	45910519	y	y	splicing	EPG5(NM_020964:exon24:c.4205+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.4205+2T>C;ENST00000587884:exon7:c.830+2T>C;ENST00000590884:exon7:c.830+2T>C;ENST00000592272:exon7:c.830+2T>C)	.	.	0.999929727175276	0.86
18	43490484	A	T	18	45910519	y	y	splicing	EPG5(NM_020964:exon24:c.4205+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.4205+2T>A;ENST00000587884:exon7:c.830+2T>A;ENST00000590884:exon7:c.830+2T>A;ENST00000592272:exon7:c.830+2T>A)	.	.	0.999988247793601	0.928
18	43490485	C	A	18	45910520	y	y	splicing	EPG5(NM_020964:exon24:c.4205+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.4205+1G>T;ENST00000587884:exon7:c.830+1G>T;ENST00000590884:exon7:c.830+1G>T;ENST00000592272:exon7:c.830+1G>T)	.	.	0.999985532734767	0.936
18	43490485	C	G	18	45910520	y	y	splicing	EPG5(NM_020964:exon24:c.4205+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.4205+1G>C;ENST00000587884:exon7:c.830+1G>C;ENST00000590884:exon7:c.830+1G>C;ENST00000592272:exon7:c.830+1G>C)	.	.	0.999985532734767	0.936
18	43490485	C	T	18	45910520	y	y	splicing	EPG5(NM_020964:exon24:c.4205+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.4205+1G>A;ENST00000587884:exon7:c.830+1G>A;ENST00000590884:exon7:c.830+1G>A;ENST00000592272:exon7:c.830+1G>A)	.	.	0.999985532734767	0.936
18	43490486	C	A	18	45910521	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon23:c.G4205T:p.R1402M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G830T:p.R277M;ENSG00000152223:ENST00000592272:exon6:c.G830T:p.R277M;ENSG00000152223:ENST00000282041:exon23:c.G4205T:p.R1402M;ENSG00000152223:ENST00000590884:exon6:c.G830T:p.R277M;	0.999819199294092	0.984
18	43490486	C	G	18	45910521	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon23:c.G4205C:p.R1402T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G830C:p.R277T;ENSG00000152223:ENST00000592272:exon6:c.G830C:p.R277T;ENSG00000152223:ENST00000282041:exon23:c.G4205C:p.R1402T;ENSG00000152223:ENST00000590884:exon6:c.G830C:p.R277T;	0.999800814624513	0.916
18	43490486	C	T	18	45910521	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon23:c.G4205A:p.R1402K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G830A:p.R277K;ENSG00000152223:ENST00000592272:exon6:c.G830A:p.R277K;ENSG00000152223:ENST00000282041:exon23:c.G4205A:p.R1402K;ENSG00000152223:ENST00000590884:exon6:c.G830A:p.R277K;	0.999849966517594	0.964
18	43490487	T	A	18	45910522	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon23:c.A4204T:p.R1402W;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.A829T:p.R277W;ENSG00000152223:ENST00000592272:exon6:c.A829T:p.R277W;ENSG00000152223:ENST00000282041:exon23:c.A4204T:p.R1402W;ENSG00000152223:ENST00000590884:exon6:c.A829T:p.R277W;	0.995910932014196	0.862
18	43490487	T	C	18	45910522	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon23:c.A4204G:p.R1402G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.A829G:p.R277G;ENSG00000152223:ENST00000592272:exon6:c.A829G:p.R277G;ENSG00000152223:ENST00000282041:exon23:c.A4204G:p.R1402G;ENSG00000152223:ENST00000590884:exon6:c.A829G:p.R277G;	0.998471595625648	0.98
18	43490487	T	G	18	45910522	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon23:c.A4204C:p.R1402R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.A829C:p.R277R;ENSG00000152223:ENST00000592272:exon6:c.A829C:p.R277R;ENSG00000152223:ENST00000282041:exon23:c.A4204C:p.R1402R;ENSG00000152223:ENST00000590884:exon6:c.A829C:p.R277R;	0.89563426111137	0.734
18	43490488	C	A	18	45910523	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon23:c.G4203T:p.V1401V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G828T:p.V276V;ENSG00000152223:ENST00000592272:exon6:c.G828T:p.V276V;ENSG00000152223:ENST00000282041:exon23:c.G4203T:p.V1401V;ENSG00000152223:ENST00000590884:exon6:c.G828T:p.V276V;	6.98379015828275E-4	0.044
18	43490488	C	G	18	45910523	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon23:c.G4203C:p.V1401V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G828C:p.V276V;ENSG00000152223:ENST00000592272:exon6:c.G828C:p.V276V;ENSG00000152223:ENST00000282041:exon23:c.G4203C:p.V1401V;ENSG00000152223:ENST00000590884:exon6:c.G828C:p.V276V;	8.90301871092317E-5	0.016
18	43490488	C	T	18	45910523	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon23:c.G4203A:p.V1401V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G828A:p.V276V;ENSG00000152223:ENST00000592272:exon6:c.G828A:p.V276V;ENSG00000152223:ENST00000282041:exon23:c.G4203A:p.V1401V;ENSG00000152223:ENST00000590884:exon6:c.G828A:p.V276V;	8.90301871092317E-5	0.006
18	43490706	A	C	18	45910741	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon23:c.T3985G:p.L1329V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.T610G:p.L204V;ENSG00000152223:ENST00000592272:exon6:c.T610G:p.L204V;ENSG00000152223:ENST00000282041:exon23:c.T3985G:p.L1329V;ENSG00000152223:ENST00000590884:exon6:c.T610G:p.L204V;	0.0035370820867163	0.14
18	43490706	A	G	18	45910741	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon23:c.T3985C:p.L1329L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.T610C:p.L204L;ENSG00000152223:ENST00000592272:exon6:c.T610C:p.L204L;ENSG00000152223:ENST00000282041:exon23:c.T3985C:p.L1329L;ENSG00000152223:ENST00000590884:exon6:c.T610C:p.L204L;	0.00332044317319854	0.152
18	43490706	A	T	18	45910741	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon23:c.T3985A:p.L1329I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.T610A:p.L204I;ENSG00000152223:ENST00000592272:exon6:c.T610A:p.L204I;ENSG00000152223:ENST00000282041:exon23:c.T3985A:p.L1329I;ENSG00000152223:ENST00000590884:exon6:c.T610A:p.L204I;	0.00109821674342581	0.184
18	43490707	C	A	18	45910742	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon23:c.G3984T:p.G1328G;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G609T:p.G203G;ENSG00000152223:ENST00000592272:exon6:c.G609T:p.G203G;ENSG00000152223:ENST00000282041:exon23:c.G3984T:p.G1328G;ENSG00000152223:ENST00000590884:exon6:c.G609T:p.G203G;	0.800959799346213	0.72
18	43490707	C	G	18	45910742	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon23:c.G3984C:p.G1328G;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G609C:p.G203G;ENSG00000152223:ENST00000592272:exon6:c.G609C:p.G203G;ENSG00000152223:ENST00000282041:exon23:c.G3984C:p.G1328G;ENSG00000152223:ENST00000590884:exon6:c.G609C:p.G203G;	0.256288777850869	0.632
18	43490707	C	T	18	45910742	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon23:c.G3984A:p.G1328G;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon6:c.G609A:p.G203G;ENSG00000152223:ENST00000592272:exon6:c.G609A:p.G203G;ENSG00000152223:ENST00000282041:exon23:c.G3984A:p.G1328G;ENSG00000152223:ENST00000590884:exon6:c.G609A:p.G203G;	0.057563826017405	0.362
18	43490708	C	A	18	45910743	y	y	splicing	EPG5(NM_020964:exon24:c.3984-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.3984-1G>T;ENST00000587884:exon7:c.609-1G>T;ENST00000590884:exon7:c.609-1G>T;ENST00000592272:exon7:c.609-1G>T)	.	.	0.999981760802075	0.954
18	43490708	C	G	18	45910743	y	y	splicing	EPG5(NM_020964:exon24:c.3984-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.3984-1G>C;ENST00000587884:exon7:c.609-1G>C;ENST00000590884:exon7:c.609-1G>C;ENST00000592272:exon7:c.609-1G>C)	.	.	0.999981760802075	0.954
18	43490708	C	T	18	45910743	y	y	splicing	EPG5(NM_020964:exon24:c.3984-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.3984-1G>A;ENST00000587884:exon7:c.609-1G>A;ENST00000590884:exon7:c.609-1G>A;ENST00000592272:exon7:c.609-1G>A)	.	.	0.999981760802075	0.954
18	43490709	T	A	18	45910744	y	y	splicing	EPG5(NM_020964:exon24:c.3984-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.3984-2A>T;ENST00000587884:exon7:c.609-2A>T;ENST00000590884:exon7:c.609-2A>T;ENST00000592272:exon7:c.609-2A>T)	.	.	0.999989917668626	0.942
18	43490709	T	C	18	45910744	y	y	splicing	EPG5(NM_020964:exon24:c.3984-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.3984-2A>G;ENST00000587884:exon7:c.609-2A>G;ENST00000590884:exon7:c.609-2A>G;ENST00000592272:exon7:c.609-2A>G)	.	.	0.999989917668626	0.942
18	43490709	T	G	18	45910744	y	y	splicing	EPG5(NM_020964:exon24:c.3984-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon24:c.3984-2A>C;ENST00000587884:exon7:c.609-2A>C;ENST00000590884:exon7:c.609-2A>C;ENST00000592272:exon7:c.609-2A>C)	.	.	0.999989917668626	0.942
18	43490710	T	A	18	45910745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.02089143417636E-4	0.0
18	43490710	T	C	18	45910745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.148666289930322	0.394
18	43490710	T	G	18	45910745	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.33421601092998E-4	0.072
18	43490711	A	C	18	45910746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.24047062875879E-4	0.022
18	43490711	A	G	18	45910746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.32828782847204E-4	0.03
18	43490711	A	T	18	45910746	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.70715205668245E-4	0.014
18	43490712	A	C	18	45910747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996274503750368	0.922
18	43490712	A	G	18	45910747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.109579665799286	0.298
18	43490712	A	T	18	45910747	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996366032870281	0.9
18	43490713	A	C	18	45910748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.433683919353182	0.718
18	43490713	A	G	18	45910748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.91741253548554E-4	0.046
18	43490713	A	T	18	45910748	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.257967663833015	0.638
18	43490714	A	C	18	45910749	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.615853777601102	0.588
18	43490714	A	G	18	45910749	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00526352664661114	0.098
18	43490714	A	T	18	45910749	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.92891814950867	0.782
18	43490715	A	C	18	45910750	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0360780841474302	0.35
18	43490715	A	G	18	45910750	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.35094147694641E-4	0.026
18	43490715	A	T	18	45910750	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.617110571025359	0.49
18	43490716	A	C	18	45910751	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0478631772836818	0.366
18	43490716	A	G	18	45910751	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00917066859697366	0.108
18	43490716	A	T	18	45910751	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0319856967297443	0.44
18	43490717	C	A	18	45910752	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.6592717027399E-5	0.004
18	43490717	C	G	18	45910752	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.28604337598493E-5	0.002
18	43490717	C	T	18	45910752	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.79607676758157E-4	0.016
18	43490718	A	C	18	45910753	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.448235697843361	0.426
18	43490718	A	G	18	45910753	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00348155705055644	0.18
18	43490718	A	T	18	45910753	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999592778597312	0.874
18	43490719	C	A	18	45910754	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.92342224652038E-5	0.006
18	43490719	C	G	18	45910754	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.23921413876198E-4	0.002
18	43490719	C	T	18	45910754	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.52883617954292E-5	0.02
18	43492247	C	A	18	45912282	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.71739148404647E-4	0.01
18	43492247	C	G	18	45912282	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.55350909776103E-5	0.004
18	43492247	C	T	18	45912282	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.48974442257058E-4	0.018
18	43492248	A	C	18	45912283	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.99769738680469E-5	0.0
18	43492248	A	G	18	45912283	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.99769738680469E-5	0.0
18	43492248	A	T	18	45912283	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.99769738680469E-5	0.002
18	43492249	G	A	18	45912284	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.19730885060738E-5	0.02
18	43492249	G	C	18	45912284	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.95242342302906E-4	0.04
18	43492249	G	T	18	45912284	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.93657906197718E-5	0.084
18	43492250	C	A	18	45912285	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999920137519871	0.968
18	43492250	C	G	18	45912285	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999981130827924	0.996
18	43492250	C	T	18	45912285	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999961139848078	0.984
18	43492251	A	C	18	45912286	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.30253749004221E-4	0.132
18	43492251	A	G	18	45912286	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.13268392046919E-4	0.06
18	43492251	A	T	18	45912286	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.00078592774777E-4	0.002
18	43492252	T	A	18	45912287	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999959644004528	0.982
18	43492252	T	C	18	45912287	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999016124330531	0.906
18	43492252	T	G	18	45912287	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999896812329202	0.982
18	43492253	A	C	18	45912288	y	y	splicing	EPG5(NM_020964:exon23:c.3983+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3983+2T>G;ENST00000587884:exon6:c.608+2T>G;ENST00000590884:exon6:c.608+2T>G;ENST00000592272:exon6:c.608+2T>G)	.	.	0.999988624979899	0.944
18	43492253	A	G	18	45912288	y	y	splicing	EPG5(NM_020964:exon23:c.3983+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3983+2T>C;ENST00000587884:exon6:c.608+2T>C;ENST00000590884:exon6:c.608+2T>C;ENST00000592272:exon6:c.608+2T>C)	.	.	0.999905215961779	0.892
18	43492253	A	T	18	45912288	y	y	splicing	EPG5(NM_020964:exon23:c.3983+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3983+2T>A;ENST00000587884:exon6:c.608+2T>A;ENST00000590884:exon6:c.608+2T>A;ENST00000592272:exon6:c.608+2T>A)	.	.	0.999988624979899	0.944
18	43492254	C	A	18	45912289	y	y	splicing	EPG5(NM_020964:exon23:c.3983+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3983+1G>T;ENST00000587884:exon6:c.608+1G>T;ENST00000590884:exon6:c.608+1G>T;ENST00000592272:exon6:c.608+1G>T)	.	.	0.999979422316293	0.95
18	43492254	C	G	18	45912289	y	y	splicing	EPG5(NM_020964:exon23:c.3983+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3983+1G>C;ENST00000587884:exon6:c.608+1G>C;ENST00000590884:exon6:c.608+1G>C;ENST00000592272:exon6:c.608+1G>C)	.	.	0.999979422316293	0.95
18	43492254	C	T	18	45912289	y	y	splicing	EPG5(NM_020964:exon23:c.3983+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3983+1G>A;ENST00000587884:exon6:c.608+1G>A;ENST00000590884:exon6:c.608+1G>A;ENST00000592272:exon6:c.608+1G>A)	.	.	0.999979422316293	0.95
18	43492255	C	A	18	45912290	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.G3983T:p.G1328V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.G608T:p.G203V;ENSG00000152223:ENST00000592272:exon5:c.G608T:p.G203V;ENSG00000152223:ENST00000282041:exon22:c.G3983T:p.G1328V;ENSG00000152223:ENST00000590884:exon5:c.G608T:p.G203V;	0.999982260987768	1.0
18	43492255	C	G	18	45912290	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.G3983C:p.G1328A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.G608C:p.G203A;ENSG00000152223:ENST00000592272:exon5:c.G608C:p.G203A;ENSG00000152223:ENST00000282041:exon22:c.G3983C:p.G1328A;ENSG00000152223:ENST00000590884:exon5:c.G608C:p.G203A;	0.999996484383085	1.0
18	43492255	C	T	18	45912290	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.G3983A:p.G1328E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.G608A:p.G203E;ENSG00000152223:ENST00000592272:exon5:c.G608A:p.G203E;ENSG00000152223:ENST00000282041:exon22:c.G3983A:p.G1328E;ENSG00000152223:ENST00000590884:exon5:c.G608A:p.G203E;	0.999994466901127	0.998
18	43492256	C	A	18	45912291	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.G3982T:p.G1328W;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.G607T:p.G203W;ENSG00000152223:ENST00000592272:exon5:c.G607T:p.G203W;ENSG00000152223:ENST00000282041:exon22:c.G3982T:p.G1328W;ENSG00000152223:ENST00000590884:exon5:c.G607T:p.G203W;	0.260315143566871	0.356
18	43492256	C	G	18	45912291	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.G3982C:p.G1328R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.G607C:p.G203R;ENSG00000152223:ENST00000592272:exon5:c.G607C:p.G203R;ENSG00000152223:ENST00000282041:exon22:c.G3982C:p.G1328R;ENSG00000152223:ENST00000590884:exon5:c.G607C:p.G203R;	0.126257726069901	0.384
18	43492256	C	T	18	45912291	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.G3982A:p.G1328R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.G607A:p.G203R;ENSG00000152223:ENST00000592272:exon5:c.G607A:p.G203R;ENSG00000152223:ENST00000282041:exon22:c.G3982A:p.G1328R;ENSG00000152223:ENST00000590884:exon5:c.G607A:p.G203R;	0.0541410747043975	0.448
18	43492257	A	C	18	45912292	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon22:c.T3981G:p.Y1327X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000587884:exon5:c.T606G:p.Y202X;ENSG00000152223:ENST00000592272:exon5:c.T606G:p.Y202X;ENSG00000152223:ENST00000282041:exon22:c.T3981G:p.Y1327X;ENSG00000152223:ENST00000590884:exon5:c.T606G:p.Y202X;	3.73189291583011E-4	0.416
18	43492257	A	G	18	45912292	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon22:c.T3981C:p.Y1327Y;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.T606C:p.Y202Y;ENSG00000152223:ENST00000592272:exon5:c.T606C:p.Y202Y;ENSG00000152223:ENST00000282041:exon22:c.T3981C:p.Y1327Y;ENSG00000152223:ENST00000590884:exon5:c.T606C:p.Y202Y;	3.60535432194514E-5	0.022
18	43492257	A	T	18	45912292	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon22:c.T3981A:p.Y1327X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000587884:exon5:c.T606A:p.Y202X;ENSG00000152223:ENST00000592272:exon5:c.T606A:p.Y202X;ENSG00000152223:ENST00000282041:exon22:c.T3981A:p.Y1327X;ENSG00000152223:ENST00000590884:exon5:c.T606A:p.Y202X;	2.17374936794598E-4	0.458
18	43492420	T	A	18	45912455	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.A3818T:p.K1273I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.A443T:p.K148I;ENSG00000152223:ENST00000592272:exon5:c.A443T:p.K148I;ENSG00000152223:ENST00000282041:exon22:c.A3818T:p.K1273I;ENSG00000152223:ENST00000590884:exon5:c.A443T:p.K148I;	0.664579646812922	0.786
18	43492420	T	C	18	45912455	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.A3818G:p.K1273R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.A443G:p.K148R;ENSG00000152223:ENST00000592272:exon5:c.A443G:p.K148R;ENSG00000152223:ENST00000282041:exon22:c.A3818G:p.K1273R;ENSG00000152223:ENST00000590884:exon5:c.A443G:p.K148R;	0.789507070180433	0.488
18	43492420	T	G	18	45912455	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.A3818C:p.K1273T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.A443C:p.K148T;ENSG00000152223:ENST00000592272:exon5:c.A443C:p.K148T;ENSG00000152223:ENST00000282041:exon22:c.A3818C:p.K1273T;ENSG00000152223:ENST00000590884:exon5:c.A443C:p.K148T;	0.786363665208879	0.824
18	43492421	T	A	18	45912456	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon22:c.A3817T:p.K1273X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000587884:exon5:c.A442T:p.K148X;ENSG00000152223:ENST00000592272:exon5:c.A442T:p.K148X;ENSG00000152223:ENST00000282041:exon22:c.A3817T:p.K1273X;ENSG00000152223:ENST00000590884:exon5:c.A442T:p.K148X;	0.296900363273892	0.518
18	43492421	T	C	18	45912456	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.A3817G:p.K1273E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.A442G:p.K148E;ENSG00000152223:ENST00000592272:exon5:c.A442G:p.K148E;ENSG00000152223:ENST00000282041:exon22:c.A3817G:p.K1273E;ENSG00000152223:ENST00000590884:exon5:c.A442G:p.K148E;	0.365445369929127	0.694
18	43492421	T	G	18	45912456	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon22:c.A3817C:p.K1273Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon5:c.A442C:p.K148Q;ENSG00000152223:ENST00000592272:exon5:c.A442C:p.K148Q;ENSG00000152223:ENST00000282041:exon22:c.A3817C:p.K1273Q;ENSG00000152223:ENST00000590884:exon5:c.A442C:p.K148Q;	0.200158964207065	0.584
18	43492422	C	A	18	45912457	y	y	splicing	EPG5(NM_020964:exon23:c.3817-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3817-1G>T;ENST00000587884:exon6:c.442-1G>T;ENST00000590884:exon6:c.442-1G>T;ENST00000592272:exon6:c.442-1G>T)	.	.	0.999986675681007	0.94
18	43492422	C	G	18	45912457	y	y	splicing	EPG5(NM_020964:exon23:c.3817-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3817-1G>C;ENST00000587884:exon6:c.442-1G>C;ENST00000590884:exon6:c.442-1G>C;ENST00000592272:exon6:c.442-1G>C)	.	.	0.999986675681007	0.94
18	43492422	C	T	18	45912457	y	y	splicing	EPG5(NM_020964:exon23:c.3817-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3817-1G>A;ENST00000587884:exon6:c.442-1G>A;ENST00000590884:exon6:c.442-1G>A;ENST00000592272:exon6:c.442-1G>A)	.	.	0.999986675681007	0.94
18	43492423	T	A	18	45912458	y	y	splicing	EPG5(NM_020964:exon23:c.3817-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3817-2A>T;ENST00000587884:exon6:c.442-2A>T;ENST00000590884:exon6:c.442-2A>T;ENST00000592272:exon6:c.442-2A>T)	.	.	0.999989917668626	0.928
18	43492423	T	C	18	45912458	y	y	splicing	EPG5(NM_020964:exon23:c.3817-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3817-2A>G;ENST00000587884:exon6:c.442-2A>G;ENST00000590884:exon6:c.442-2A>G;ENST00000592272:exon6:c.442-2A>G)	.	.	0.999989917668626	0.928
18	43492423	T	G	18	45912458	y	y	splicing	EPG5(NM_020964:exon23:c.3817-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon23:c.3817-2A>C;ENST00000587884:exon6:c.442-2A>C;ENST00000590884:exon6:c.442-2A>C;ENST00000592272:exon6:c.442-2A>C)	.	.	0.999989917668626	0.928
18	43492424	A	C	18	45912459	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.792215692204568	0.528
18	43492424	A	G	18	45912459	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.47000146720412E-5	0.006
18	43492424	A	T	18	45912459	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00195276622009773	0.086
18	43492425	C	A	18	45912460	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.60588400235427E-5	0.012
18	43492425	C	G	18	45912460	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.90354619989952E-5	0.004
18	43492425	C	T	18	45912460	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.13885696315613E-5	0.01
18	43492426	A	C	18	45912461	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.3146889527318E-4	0.184
18	43492426	A	G	18	45912461	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.9135753094939E-5	0.004
18	43492426	A	T	18	45912461	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.943416433343065	0.884
18	43492427	A	C	18	45912462	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.66544799087733E-4	0.124
18	43492427	A	G	18	45912462	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.76143961896454E-5	0.004
18	43492427	A	T	18	45912462	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.98060034446058E-4	0.138
18	43492428	A	C	18	45912463	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.44108792324661E-5	0.02
18	43492428	A	G	18	45912463	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.63799030304721E-5	0.0
18	43492428	A	T	18	45912463	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.91835620529655E-5	0.008
18	43492429	A	C	18	45912464	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.44352795906778E-4	0.05
18	43492429	A	G	18	45912464	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.03337885132935E-4	0.016
18	43492429	A	T	18	45912464	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.3391191864285E-4	0.056
18	43492430	A	C	18	45912465	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.06604113593123E-4	0.048
18	43492430	A	G	18	45912465	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.425701322268E-5	0.008
18	43492430	A	T	18	45912465	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.34470422999843E-5	0.012
18	43492431	A	C	18	45912466	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.38411143570887E-4	0.25
18	43492431	A	G	18	45912466	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.75814586605331E-4	0.04
18	43492431	A	T	18	45912466	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00237617303097526	0.278
18	43492432	G	A	18	45912467	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.24210920547014E-5	0.0
18	43492432	G	C	18	45912467	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.48022761302004E-5	0.004
18	43492432	G	T	18	45912467	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.38629028117775E-4	0.048
18	43492433	A	C	18	45912468	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.75670953457906E-4	0.058
18	43492433	A	G	18	45912468	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.54518931849807E-5	0.0
18	43492433	A	T	18	45912468	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.24977942499294E-4	0.084
18	43493663	A	C	18	45913698	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0013587261216975	0.018
18	43493663	A	G	18	45913698	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0013587261216975	0.02
18	43493663	A	T	18	45913698	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00116731359990753	0.014
18	43493664	T	A	18	45913699	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00117949577274791	0.014
18	43493664	T	C	18	45913699	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00246007815457048	0.022
18	43493664	T	G	18	45913699	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00117949577274791	0.012
18	43493665	T	A	18	45913700	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.67944982512943E-5	0.026
18	43493665	T	C	18	45913700	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.2877318598047E-5	0.08
18	43493665	T	G	18	45913700	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.88939635352514E-5	0.03
18	43493666	T	A	18	45913701	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00215239601983561	0.054
18	43493666	T	C	18	45913701	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.82337739019108E-4	0.07
18	43493666	T	G	18	45913701	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00502731592338336	0.108
18	43493667	G	A	18	45913702	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.39104761038864E-4	0.068
18	43493667	G	C	18	45913702	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.50535686251778E-5	0.066
18	43493667	G	T	18	45913702	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.07963926570874E-5	0.068
18	43493668	T	A	18	45913703	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99955766050096	0.678
18	43493668	T	C	18	45913703	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.819753824480186	0.43
18	43493668	T	G	18	45913703	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99955766050096	0.686
18	43493669	A	C	18	45913704	y	y	splicing	EPG5(NM_020964:exon22:c.3816+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3816+2T>G;ENST00000587884:exon5:c.441+2T>G;ENST00000590884:exon5:c.441+2T>G;ENST00000592272:exon5:c.441+2T>G)	.	.	0.999989917668626	0.904
18	43493669	A	G	18	45913704	y	y	splicing	EPG5(NM_020964:exon22:c.3816+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3816+2T>C;ENST00000587884:exon5:c.441+2T>C;ENST00000590884:exon5:c.441+2T>C;ENST00000592272:exon5:c.441+2T>C)	.	.	0.993792413477353	0.618
18	43493669	A	T	18	45913704	y	y	splicing	EPG5(NM_020964:exon22:c.3816+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3816+2T>A;ENST00000587884:exon5:c.441+2T>A;ENST00000590884:exon5:c.441+2T>A;ENST00000592272:exon5:c.441+2T>A)	.	.	0.999989917668626	0.906
18	43493670	C	A	18	45913705	y	y	splicing	EPG5(NM_020964:exon22:c.3816+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3816+1G>T;ENST00000587884:exon5:c.441+1G>T;ENST00000590884:exon5:c.441+1G>T;ENST00000592272:exon5:c.441+1G>T)	.	.	0.999986675681007	0.922
18	43493670	C	G	18	45913705	y	y	splicing	EPG5(NM_020964:exon22:c.3816+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3816+1G>C;ENST00000587884:exon5:c.441+1G>C;ENST00000590884:exon5:c.441+1G>C;ENST00000592272:exon5:c.441+1G>C)	.	.	0.999986675681007	0.922
18	43493670	C	T	18	45913705	y	y	splicing	EPG5(NM_020964:exon22:c.3816+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3816+1G>A;ENST00000587884:exon5:c.441+1G>A;ENST00000590884:exon5:c.441+1G>A;ENST00000592272:exon5:c.441+1G>A)	.	.	0.999986675681007	0.922
18	43493671	C	A	18	45913706	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.G3816T:p.K1272N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.G441T:p.K147N;ENSG00000152223:ENST00000592272:exon4:c.G441T:p.K147N;ENSG00000152223:ENST00000282041:exon21:c.G3816T:p.K1272N;ENSG00000152223:ENST00000590884:exon4:c.G441T:p.K147N;	0.999992581621154	0.97
18	43493671	C	G	18	45913706	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.G3816C:p.K1272N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.G441C:p.K147N;ENSG00000152223:ENST00000592272:exon4:c.G441C:p.K147N;ENSG00000152223:ENST00000282041:exon21:c.G3816C:p.K1272N;ENSG00000152223:ENST00000590884:exon4:c.G441C:p.K147N;	0.999997627706868	1.0
18	43493671	C	T	18	45913706	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon21:c.G3816A:p.K1272K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.G441A:p.K147K;ENSG00000152223:ENST00000592272:exon4:c.G441A:p.K147K;ENSG00000152223:ENST00000282041:exon21:c.G3816A:p.K1272K;ENSG00000152223:ENST00000590884:exon4:c.G441A:p.K147K;	0.999988893552633	0.994
18	43493672	T	A	18	45913707	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.A3815T:p.K1272M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.A440T:p.K147M;ENSG00000152223:ENST00000592272:exon4:c.A440T:p.K147M;ENSG00000152223:ENST00000282041:exon21:c.A3815T:p.K1272M;ENSG00000152223:ENST00000590884:exon4:c.A440T:p.K147M;	0.999980798576572	0.998
18	43493672	T	C	18	45913707	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.A3815G:p.K1272R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.A440G:p.K147R;ENSG00000152223:ENST00000592272:exon4:c.A440G:p.K147R;ENSG00000152223:ENST00000282041:exon21:c.A3815G:p.K1272R;ENSG00000152223:ENST00000590884:exon4:c.A440G:p.K147R;	0.999983167942724	0.994
18	43493672	T	G	18	45913707	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.A3815C:p.K1272T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.A440C:p.K147T;ENSG00000152223:ENST00000592272:exon4:c.A440C:p.K147T;ENSG00000152223:ENST00000282041:exon21:c.A3815C:p.K1272T;ENSG00000152223:ENST00000590884:exon4:c.A440C:p.K147T;	0.999869541981794	0.98
18	43493673	T	A	18	45913708	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon21:c.A3814T:p.K1272X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000587884:exon4:c.A439T:p.K147X;ENSG00000152223:ENST00000592272:exon4:c.A439T:p.K147X;ENSG00000152223:ENST00000282041:exon21:c.A3814T:p.K1272X;ENSG00000152223:ENST00000590884:exon4:c.A439T:p.K147X;	0.997588975509545	0.898
18	43493673	T	C	18	45913708	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.A3814G:p.K1272E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.A439G:p.K147E;ENSG00000152223:ENST00000592272:exon4:c.A439G:p.K147E;ENSG00000152223:ENST00000282041:exon21:c.A3814G:p.K1272E;ENSG00000152223:ENST00000590884:exon4:c.A439G:p.K147E;	0.660833683365109	0.504
18	43493673	T	G	18	45913708	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.A3814C:p.K1272Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.A439C:p.K147Q;ENSG00000152223:ENST00000592272:exon4:c.A439C:p.K147Q;ENSG00000152223:ENST00000282041:exon21:c.A3814C:p.K1272Q;ENSG00000152223:ENST00000590884:exon4:c.A439C:p.K147Q;	0.782582168320757	0.728
18	43493792	A	C	18	45913827	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.T3695G:p.V1232G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.T320G:p.V107G;ENSG00000152223:ENST00000592272:exon4:c.T320G:p.V107G;ENSG00000152223:ENST00000282041:exon21:c.T3695G:p.V1232G;ENSG00000152223:ENST00000590884:exon4:c.T320G:p.V107G;	0.12512108658384	0.468
18	43493792	A	G	18	45913827	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.T3695C:p.V1232A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.T320C:p.V107A;ENSG00000152223:ENST00000592272:exon4:c.T320C:p.V107A;ENSG00000152223:ENST00000282041:exon21:c.T3695C:p.V1232A;ENSG00000152223:ENST00000590884:exon4:c.T320C:p.V107A;	0.113128102779841	0.528
18	43493792	A	T	18	45913827	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.T3695A:p.V1232D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.T320A:p.V107D;ENSG00000152223:ENST00000592272:exon4:c.T320A:p.V107D;ENSG00000152223:ENST00000282041:exon21:c.T3695A:p.V1232D;ENSG00000152223:ENST00000590884:exon4:c.T320A:p.V107D;	0.115155279633376	0.464
18	43493793	C	A	18	45913828	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.G3694T:p.V1232F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.G319T:p.V107F;ENSG00000152223:ENST00000592272:exon4:c.G319T:p.V107F;ENSG00000152223:ENST00000282041:exon21:c.G3694T:p.V1232F;ENSG00000152223:ENST00000590884:exon4:c.G319T:p.V107F;	0.999797130935713	0.976
18	43493793	C	G	18	45913828	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.G3694C:p.V1232L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.G319C:p.V107L;ENSG00000152223:ENST00000592272:exon4:c.G319C:p.V107L;ENSG00000152223:ENST00000282041:exon21:c.G3694C:p.V1232L;ENSG00000152223:ENST00000590884:exon4:c.G319C:p.V107L;	0.999464504409506	0.97
18	43493793	C	T	18	45913828	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon21:c.G3694A:p.V1232I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon4:c.G319A:p.V107I;ENSG00000152223:ENST00000592272:exon4:c.G319A:p.V107I;ENSG00000152223:ENST00000282041:exon21:c.G3694A:p.V1232I;ENSG00000152223:ENST00000590884:exon4:c.G319A:p.V107I;	0.998566971098318	0.84
18	43493794	C	A	18	45913829	y	y	splicing	EPG5(NM_020964:exon22:c.3694-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3694-1G>T;ENST00000587884:exon5:c.319-1G>T;ENST00000590884:exon5:c.319-1G>T;ENST00000592272:exon5:c.319-1G>T)	.	.	0.999986675681007	0.94
18	43493794	C	G	18	45913829	y	y	splicing	EPG5(NM_020964:exon22:c.3694-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3694-1G>C;ENST00000587884:exon5:c.319-1G>C;ENST00000590884:exon5:c.319-1G>C;ENST00000592272:exon5:c.319-1G>C)	.	.	0.999986675681007	0.938
18	43493794	C	T	18	45913829	y	y	splicing	EPG5(NM_020964:exon22:c.3694-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3694-1G>A;ENST00000587884:exon5:c.319-1G>A;ENST00000590884:exon5:c.319-1G>A;ENST00000592272:exon5:c.319-1G>A)	.	.	0.999986675681007	0.94
18	43493795	T	A	18	45913830	y	y	splicing	EPG5(NM_020964:exon22:c.3694-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3694-2A>T;ENST00000587884:exon5:c.319-2A>T;ENST00000590884:exon5:c.319-2A>T;ENST00000592272:exon5:c.319-2A>T)	.	.	0.999989917668626	0.922
18	43493795	T	C	18	45913830	y	y	splicing	EPG5(NM_020964:exon22:c.3694-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3694-2A>G;ENST00000587884:exon5:c.319-2A>G;ENST00000590884:exon5:c.319-2A>G;ENST00000592272:exon5:c.319-2A>G)	.	.	0.999989917668626	0.926
18	43493795	T	G	18	45913830	y	y	splicing	EPG5(NM_020964:exon22:c.3694-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon22:c.3694-2A>C;ENST00000587884:exon5:c.319-2A>C;ENST00000590884:exon5:c.319-2A>C;ENST00000592272:exon5:c.319-2A>C)	.	.	0.999989917668626	0.926
18	43493796	A	C	18	45913831	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.939592190576462	0.676
18	43493796	A	G	18	45913831	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.06171205369306E-5	0.002
18	43493796	A	T	18	45913831	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0026947655302231	0.078
18	43493797	T	A	18	45913832	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.02001279159148E-5	0.0
18	43493797	T	C	18	45913832	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.89144881932328E-4	0.0
18	43493797	T	G	18	45913832	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.21247572224113E-4	0.004
18	43493798	A	C	18	45913833	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.113842788348195	0.49
18	43493798	A	G	18	45913833	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.00188566423176E-5	0.02
18	43493798	A	T	18	45913833	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.12218365809616	0.462
18	43493799	A	C	18	45913834	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999724195006911	0.986
18	43493799	A	G	18	45913834	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.13767781890001E-5	0.0
18	43493799	A	T	18	45913834	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0526346842616193	0.32
18	43493800	T	A	18	45913835	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.250243698046E-5	0.0
18	43493800	T	C	18	45913835	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.88152109813545E-5	0.018
18	43493800	T	G	18	45913835	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.53980235418604E-5	0.024
18	43493801	G	A	18	45913836	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.04891514817848E-5	0.002
18	43493801	G	C	18	45913836	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00461692661354309	0.072
18	43493801	G	T	18	45913836	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00670947745251262	0.09
18	43493802	A	C	18	45913837	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0525050752742071	0.228
18	43493802	A	G	18	45913837	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.84962752353034E-4	0.022
18	43493802	A	T	18	45913837	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.120137294613308	0.258
18	43493803	C	A	18	45913838	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.39934932302191E-4	0.004
18	43493803	C	G	18	45913838	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.00711029454199E-5	0.0
18	43493803	C	T	18	45913838	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.04080821078617E-4	0.014
18	43493804	A	C	18	45913839	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.930535178737452	0.71
18	43493804	A	G	18	45913839	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0158816034891003	0.24
18	43493804	A	T	18	45913839	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999938710814221	0.954
18	43493805	C	A	18	45913840	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.37700862381713E-5	0.01
18	43493805	C	G	18	45913840	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.91320489499667E-5	0.0
18	43493805	C	T	18	45913840	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.42905446718627E-5	0.002
18	43495468	T	A	18	45915503	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.61464922675008E-5	0.0
18	43495468	T	C	18	45915503	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.94092772707875E-5	0.0
18	43495468	T	G	18	45915503	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.61464922675008E-5	0.0
18	43495469	T	A	18	45915504	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.51403784937142E-4	0.0
18	43495469	T	C	18	45915504	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.75029170818947E-5	0.0
18	43495469	T	G	18	45915504	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.51403784937142E-4	0.0
18	43495470	T	A	18	45915505	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.70820958914791E-5	0.012
18	43495470	T	C	18	45915505	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.86860625844328E-5	0.0
18	43495470	T	G	18	45915505	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.32058732831705E-4	0.014
18	43495471	C	A	18	45915506	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999384679664111	0.708
18	43495471	C	G	18	45915506	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996545583845033	0.664
18	43495471	C	T	18	45915506	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.882670229215825	0.478
18	43495472	C	A	18	45915507	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.14898056457779E-4	0.03
18	43495472	C	G	18	45915507	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.69711948081295E-4	0.034
18	43495472	C	T	18	45915507	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.77647040485767E-4	0.09
18	43495473	T	A	18	45915508	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.990468237846071	0.802
18	43495473	T	C	18	45915508	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.678388881561411	0.506
18	43495473	T	G	18	45915508	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.987363240368983	0.832
18	43495474	A	C	18	45915509	y	y	splicing	EPG5(NM_020964:exon21:c.3693+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3693+2T>G;ENST00000587884:exon4:c.318+2T>G;ENST00000590884:exon4:c.318+2T>G;ENST00000592272:exon4:c.318+2T>G)	.	.	0.99994568797423	0.944
18	43495474	A	G	18	45915509	y	y	splicing	EPG5(NM_020964:exon21:c.3693+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3693+2T>C;ENST00000587884:exon4:c.318+2T>C;ENST00000590884:exon4:c.318+2T>C;ENST00000592272:exon4:c.318+2T>C)	.	.	0.952527091078767	0.646
18	43495474	A	T	18	45915509	y	y	splicing	EPG5(NM_020964:exon21:c.3693+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3693+2T>A;ENST00000587884:exon4:c.318+2T>A;ENST00000590884:exon4:c.318+2T>A;ENST00000592272:exon4:c.318+2T>A)	.	.	0.99994568797423	0.94
18	43495475	C	A	18	45915510	y	y	splicing	EPG5(NM_020964:exon21:c.3693+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3693+1G>T;ENST00000587884:exon4:c.318+1G>T;ENST00000590884:exon4:c.318+1G>T;ENST00000592272:exon4:c.318+1G>T)	.	.	0.99993314117114	0.944
18	43495475	C	G	18	45915510	y	y	splicing	EPG5(NM_020964:exon21:c.3693+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3693+1G>C;ENST00000587884:exon4:c.318+1G>C;ENST00000590884:exon4:c.318+1G>C;ENST00000592272:exon4:c.318+1G>C)	.	.	0.99993314117114	0.948
18	43495475	C	T	18	45915510	y	y	splicing	EPG5(NM_020964:exon21:c.3693+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3693+1G>A;ENST00000587884:exon4:c.318+1G>A;ENST00000590884:exon4:c.318+1G>A;ENST00000592272:exon4:c.318+1G>A)	.	.	0.99993314117114	0.944
18	43495476	C	A	18	45915511	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.G3693T:p.Q1231H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.G318T:p.Q106H;ENSG00000152223:ENST00000592272:exon3:c.G318T:p.Q106H;ENSG00000152223:ENST00000282041:exon20:c.G3693T:p.Q1231H;ENSG00000152223:ENST00000590884:exon3:c.G318T:p.Q106H;	0.999941470145065	0.996
18	43495476	C	G	18	45915511	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.G3693C:p.Q1231H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.G318C:p.Q106H;ENSG00000152223:ENST00000592272:exon3:c.G318C:p.Q106H;ENSG00000152223:ENST00000282041:exon20:c.G3693C:p.Q1231H;ENSG00000152223:ENST00000590884:exon3:c.G318C:p.Q106H;	0.999879972415677	0.942
18	43495476	C	T	18	45915511	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon20:c.G3693A:p.Q1231Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.G318A:p.Q106Q;ENSG00000152223:ENST00000592272:exon3:c.G318A:p.Q106Q;ENSG00000152223:ENST00000282041:exon20:c.G3693A:p.Q1231Q;ENSG00000152223:ENST00000590884:exon3:c.G318A:p.Q106Q;	0.998570927378857	0.97
18	43495477	T	A	18	45915512	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3692T:p.Q1231L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A317T:p.Q106L;ENSG00000152223:ENST00000592272:exon3:c.A317T:p.Q106L;ENSG00000152223:ENST00000282041:exon20:c.A3692T:p.Q1231L;ENSG00000152223:ENST00000590884:exon3:c.A317T:p.Q106L;	0.992202356685862	0.952
18	43495477	T	C	18	45915512	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3692G:p.Q1231R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A317G:p.Q106R;ENSG00000152223:ENST00000592272:exon3:c.A317G:p.Q106R;ENSG00000152223:ENST00000282041:exon20:c.A3692G:p.Q1231R;ENSG00000152223:ENST00000590884:exon3:c.A317G:p.Q106R;	0.997357206278593	0.946
18	43495477	T	G	18	45915512	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3692C:p.Q1231P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A317C:p.Q106P;ENSG00000152223:ENST00000592272:exon3:c.A317C:p.Q106P;ENSG00000152223:ENST00000282041:exon20:c.A3692C:p.Q1231P;ENSG00000152223:ENST00000590884:exon3:c.A317C:p.Q106P;	0.979659731257974	0.906
18	43495478	G	A	18	45915513	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon20:c.C3691T:p.Q1231X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000587884:exon3:c.C316T:p.Q106X;ENSG00000152223:ENST00000592272:exon3:c.C316T:p.Q106X;ENSG00000152223:ENST00000282041:exon20:c.C3691T:p.Q1231X;ENSG00000152223:ENST00000590884:exon3:c.C316T:p.Q106X;	0.998670074469619	0.95
18	43495478	G	C	18	45915513	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.C3691G:p.Q1231E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.C316G:p.Q106E;ENSG00000152223:ENST00000592272:exon3:c.C316G:p.Q106E;ENSG00000152223:ENST00000282041:exon20:c.C3691G:p.Q1231E;ENSG00000152223:ENST00000590884:exon3:c.C316G:p.Q106E;	0.00238746494474527	0.192
18	43495478	G	T	18	45915513	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.C3691A:p.Q1231K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.C316A:p.Q106K;ENSG00000152223:ENST00000592272:exon3:c.C316A:p.Q106K;ENSG00000152223:ENST00000282041:exon20:c.C3691A:p.Q1231K;ENSG00000152223:ENST00000590884:exon3:c.C316A:p.Q106K;	0.00880641016052705	0.142
18	43495585	T	A	18	45915620	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3584T:p.N1195I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A209T:p.N70I;ENSG00000152223:ENST00000592272:exon3:c.A209T:p.N70I;ENSG00000152223:ENST00000282041:exon20:c.A3584T:p.N1195I;ENSG00000152223:ENST00000590884:exon3:c.A209T:p.N70I;	0.194171549855375	0.51
18	43495585	T	C	18	45915620	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3584G:p.N1195S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A209G:p.N70S;ENSG00000152223:ENST00000592272:exon3:c.A209G:p.N70S;ENSG00000152223:ENST00000282041:exon20:c.A3584G:p.N1195S;ENSG00000152223:ENST00000590884:exon3:c.A209G:p.N70S;	0.00247852240355387	0.044
18	43495585	T	G	18	45915620	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3584C:p.N1195T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A209C:p.N70T;ENSG00000152223:ENST00000592272:exon3:c.A209C:p.N70T;ENSG00000152223:ENST00000282041:exon20:c.A3584C:p.N1195T;ENSG00000152223:ENST00000590884:exon3:c.A209C:p.N70T;	0.101863854102249	0.552
18	43495586	T	A	18	45915621	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3583T:p.N1195Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A208T:p.N70Y;ENSG00000152223:ENST00000592272:exon3:c.A208T:p.N70Y;ENSG00000152223:ENST00000282041:exon20:c.A3583T:p.N1195Y;ENSG00000152223:ENST00000590884:exon3:c.A208T:p.N70Y;	0.458343156537851	0.392
18	43495586	T	C	18	45915621	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3583G:p.N1195D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A208G:p.N70D;ENSG00000152223:ENST00000592272:exon3:c.A208G:p.N70D;ENSG00000152223:ENST00000282041:exon20:c.A3583G:p.N1195D;ENSG00000152223:ENST00000590884:exon3:c.A208G:p.N70D;	9.88415403344514E-4	0.04
18	43495586	T	G	18	45915621	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon20:c.A3583C:p.N1195H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon3:c.A208C:p.N70H;ENSG00000152223:ENST00000592272:exon3:c.A208C:p.N70H;ENSG00000152223:ENST00000282041:exon20:c.A3583C:p.N1195H;ENSG00000152223:ENST00000590884:exon3:c.A208C:p.N70H;	0.65613377348414	0.468
18	43495587	C	A	18	45915622	y	y	splicing	EPG5(NM_020964:exon21:c.3583-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3583-1G>T;ENST00000587884:exon4:c.208-1G>T;ENST00000590884:exon4:c.208-1G>T;ENST00000592272:exon4:c.208-1G>T)	.	.	0.999944340032687	0.884
18	43495587	C	G	18	45915622	y	y	splicing	EPG5(NM_020964:exon21:c.3583-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3583-1G>C;ENST00000587884:exon4:c.208-1G>C;ENST00000590884:exon4:c.208-1G>C;ENST00000592272:exon4:c.208-1G>C)	.	.	0.999944340032687	0.886
18	43495587	C	T	18	45915622	y	y	splicing	EPG5(NM_020964:exon21:c.3583-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3583-1G>A;ENST00000587884:exon4:c.208-1G>A;ENST00000590884:exon4:c.208-1G>A;ENST00000592272:exon4:c.208-1G>A)	.	.	0.999944340032687	0.878
18	43495588	T	A	18	45915623	y	y	splicing	EPG5(NM_020964:exon21:c.3583-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3583-2A>T;ENST00000587884:exon4:c.208-2A>T;ENST00000590884:exon4:c.208-2A>T;ENST00000592272:exon4:c.208-2A>T)	.	.	0.999954785339841	0.91
18	43495588	T	C	18	45915623	y	y	splicing	EPG5(NM_020964:exon21:c.3583-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3583-2A>G;ENST00000587884:exon4:c.208-2A>G;ENST00000590884:exon4:c.208-2A>G;ENST00000592272:exon4:c.208-2A>G)	.	.	0.999954785339841	0.918
18	43495588	T	G	18	45915623	y	y	splicing	EPG5(NM_020964:exon21:c.3583-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon21:c.3583-2A>C;ENST00000587884:exon4:c.208-2A>C;ENST00000590884:exon4:c.208-2A>C;ENST00000592272:exon4:c.208-2A>C)	.	.	0.999954785339841	0.918
18	43495589	A	C	18	45915624	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.987603748047086	0.652
18	43495589	A	G	18	45915624	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.4454171481643E-5	0.05
18	43495589	A	T	18	45915624	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.827144509538767	0.428
18	43495590	C	A	18	45915625	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.80186305254155E-5	0.002
18	43495590	C	G	18	45915625	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.13113010783968E-5	0.006
18	43495590	C	T	18	45915625	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.04264605539961E-4	0.02
18	43495591	A	C	18	45915626	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.697556794961043	0.506
18	43495591	A	G	18	45915626	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00888854541644984	0.198
18	43495591	A	T	18	45915626	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99989095363318	0.92
18	43495592	C	A	18	45915627	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.86052451178622E-5	0.002
18	43495592	C	G	18	45915627	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.43743378043763E-5	0.01
18	43495592	C	T	18	45915627	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.69995804282396E-5	0.032
18	43495593	C	A	18	45915628	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.6147740984682E-5	0.002
18	43495593	C	G	18	45915628	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.97156404244932E-5	0.0
18	43495593	C	T	18	45915628	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99735561723424	0.992
18	43495594	G	A	18	45915629	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.44121368443421E-5	0.0
18	43495594	G	C	18	45915629	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.69597854907073E-4	0.07
18	43495594	G	T	18	45915629	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.983018601151417	0.87
18	43495595	G	A	18	45915630	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.89935827056642E-6	0.0
18	43495595	G	C	18	45915630	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00157808956649077	0.048
18	43495595	G	T	18	45915630	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00442689779562187	0.064
18	43495596	G	A	18	45915631	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.26062979280745E-4	0.028
18	43495596	G	C	18	45915631	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00508868478999052	0.072
18	43495596	G	T	18	45915631	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00514206842740525	0.148
18	43495597	A	C	18	45915632	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.893016387193956	0.538
18	43495597	A	G	18	45915632	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00174189535817983	0.204
18	43495597	A	T	18	45915632	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.921227768007191	0.602
18	43495598	G	A	18	45915633	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.40295228213832E-5	0.008
18	43495598	G	C	18	45915633	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00111760362070905	0.084
18	43495598	G	T	18	45915633	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0015306725906183	0.07
18	43495966	T	A	18	45916001	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.96642874008321E-5	0.0
18	43495966	T	C	18	45916001	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.89181917790873E-5	0.0
18	43495966	T	G	18	45916001	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.82241640620333E-5	0.0
18	43495967	T	A	18	45916002	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.46947215396447E-5	0.05
18	43495967	T	C	18	45916002	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.46947215396447E-5	0.076
18	43495967	T	G	18	45916002	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.28247585953488E-5	0.084
18	43495968	A	C	18	45916003	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.26544424902532E-4	0.092
18	43495968	A	G	18	45916003	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00134467631144233	0.056
18	43495968	A	T	18	45916003	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.33590460448524E-4	0.13
18	43495969	A	C	18	45916004	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.87542267703169E-5	0.04
18	43495969	A	G	18	45916004	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.51748977307232E-5	0.0
18	43495969	A	T	18	45916004	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.20910252742477E-5	0.104
18	43495970	T	A	18	45916005	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.139560749463687	0.394
18	43495970	T	C	18	45916005	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.356082257897451	0.452
18	43495970	T	G	18	45916005	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.108416275313264	0.458
18	43495971	T	A	18	45916006	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.991966873925255	0.644
18	43495971	T	C	18	45916006	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.137633788370991	0.402
18	43495971	T	G	18	45916006	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995624682852613	0.746
18	43495972	A	C	18	45916007	y	y	splicing	EPG5(NM_020964:exon20:c.3582+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3582+2T>G;ENST00000587884:exon3:c.207+2T>G;ENST00000590884:exon3:c.207+2T>G;ENST00000592272:exon3:c.207+2T>G)	.	.	0.999955107838025	0.93
18	43495972	A	G	18	45916007	y	y	splicing	EPG5(NM_020964:exon20:c.3582+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3582+2T>C;ENST00000587884:exon3:c.207+2T>C;ENST00000590884:exon3:c.207+2T>C;ENST00000592272:exon3:c.207+2T>C)	.	.	0.96312707629796	0.612
18	43495972	A	T	18	45916007	y	y	splicing	EPG5(NM_020964:exon20:c.3582+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3582+2T>A;ENST00000587884:exon3:c.207+2T>A;ENST00000590884:exon3:c.207+2T>A;ENST00000592272:exon3:c.207+2T>A)	.	.	0.999955107838025	0.932
18	43495973	C	A	18	45916008	y	y	splicing	EPG5(NM_020964:exon20:c.3582+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3582+1G>T;ENST00000587884:exon3:c.207+1G>T;ENST00000590884:exon3:c.207+1G>T;ENST00000592272:exon3:c.207+1G>T)	.	.	0.999990361384395	0.928
18	43495973	C	G	18	45916008	y	y	splicing	EPG5(NM_020964:exon20:c.3582+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3582+1G>C;ENST00000587884:exon3:c.207+1G>C;ENST00000590884:exon3:c.207+1G>C;ENST00000592272:exon3:c.207+1G>C)	.	.	0.999990361384395	0.938
18	43495973	C	T	18	45916008	y	y	splicing	EPG5(NM_020964:exon20:c.3582+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3582+1G>A;ENST00000587884:exon3:c.207+1G>A;ENST00000590884:exon3:c.207+1G>A;ENST00000592272:exon3:c.207+1G>A)	.	.	0.999990361384395	0.936
18	43495974	C	A	18	45916009	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.G3582T:p.K1194N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.G207T:p.K69N;ENSG00000152223:ENST00000592272:exon2:c.G207T:p.K69N;ENSG00000152223:ENST00000282041:exon19:c.G3582T:p.K1194N;ENSG00000152223:ENST00000590884:exon2:c.G207T:p.K69N;	0.999988338282221	0.944
18	43495974	C	G	18	45916009	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.G3582C:p.K1194N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.G207C:p.K69N;ENSG00000152223:ENST00000592272:exon2:c.G207C:p.K69N;ENSG00000152223:ENST00000282041:exon19:c.G3582C:p.K1194N;ENSG00000152223:ENST00000590884:exon2:c.G207C:p.K69N;	0.999995119680979	0.96
18	43495974	C	T	18	45916009	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon19:c.G3582A:p.K1194K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.G207A:p.K69K;ENSG00000152223:ENST00000592272:exon2:c.G207A:p.K69K;ENSG00000152223:ENST00000282041:exon19:c.G3582A:p.K1194K;ENSG00000152223:ENST00000590884:exon2:c.G207A:p.K69K;	0.998487449841375	0.904
18	43495975	T	A	18	45916010	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.A3581T:p.K1194M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.A206T:p.K69M;ENSG00000152223:ENST00000592272:exon2:c.A206T:p.K69M;ENSG00000152223:ENST00000282041:exon19:c.A3581T:p.K1194M;ENSG00000152223:ENST00000590884:exon2:c.A206T:p.K69M;	0.999776832741732	0.982
18	43495975	T	C	18	45916010	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.A3581G:p.K1194R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.A206G:p.K69R;ENSG00000152223:ENST00000592272:exon2:c.A206G:p.K69R;ENSG00000152223:ENST00000282041:exon19:c.A3581G:p.K1194R;ENSG00000152223:ENST00000590884:exon2:c.A206G:p.K69R;	0.99937215939572	0.968
18	43495975	T	G	18	45916010	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.A3581C:p.K1194T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.A206C:p.K69T;ENSG00000152223:ENST00000592272:exon2:c.A206C:p.K69T;ENSG00000152223:ENST00000282041:exon19:c.A3581C:p.K1194T;ENSG00000152223:ENST00000590884:exon2:c.A206C:p.K69T;	0.999267397911982	0.972
18	43495976	T	A	18	45916011	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon19:c.A3580T:p.K1194X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000587884:exon2:c.A205T:p.K69X;ENSG00000152223:ENST00000592272:exon2:c.A205T:p.K69X;ENSG00000152223:ENST00000282041:exon19:c.A3580T:p.K1194X;ENSG00000152223:ENST00000590884:exon2:c.A205T:p.K69X;	0.975808239385139	0.694
18	43495976	T	C	18	45916011	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.A3580G:p.K1194E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.A205G:p.K69E;ENSG00000152223:ENST00000592272:exon2:c.A205G:p.K69E;ENSG00000152223:ENST00000282041:exon19:c.A3580G:p.K1194E;ENSG00000152223:ENST00000590884:exon2:c.A205G:p.K69E;	0.576402300919055	0.442
18	43495976	T	G	18	45916011	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.A3580C:p.K1194Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.A205C:p.K69Q;ENSG00000152223:ENST00000592272:exon2:c.A205C:p.K69Q;ENSG00000152223:ENST00000282041:exon19:c.A3580C:p.K1194Q;ENSG00000152223:ENST00000590884:exon2:c.A205C:p.K69Q;	0.864805939962064	0.55
18	43496170	G	A	18	45916205	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.C3386T:p.A1129V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.C11T:p.A4V;ENSG00000152223:ENST00000592272:exon2:c.C11T:p.A4V;ENSG00000152223:ENST00000282041:exon19:c.C3386T:p.A1129V;ENSG00000152223:ENST00000590884:exon2:c.C11T:p.A4V;	0.326957268749972	0.47
18	43496170	G	C	18	45916205	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.C3386G:p.A1129G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.C11G:p.A4G;ENSG00000152223:ENST00000592272:exon2:c.C11G:p.A4G;ENSG00000152223:ENST00000282041:exon19:c.C3386G:p.A1129G;ENSG00000152223:ENST00000590884:exon2:c.C11G:p.A4G;	0.00762718112813686	0.036
18	43496170	G	T	18	45916205	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.C3386A:p.A1129E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.C11A:p.A4E;ENSG00000152223:ENST00000592272:exon2:c.C11A:p.A4E;ENSG00000152223:ENST00000282041:exon19:c.C3386A:p.A1129E;ENSG00000152223:ENST00000590884:exon2:c.C11A:p.A4E;	0.240803649714069	0.374
18	43496171	C	A	18	45916206	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.G3385T:p.A1129S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.G10T:p.A4S;ENSG00000152223:ENST00000592272:exon2:c.G10T:p.A4S;ENSG00000152223:ENST00000282041:exon19:c.G3385T:p.A1129S;ENSG00000152223:ENST00000590884:exon2:c.G10T:p.A4S;	0.559596598676534	0.424
18	43496171	C	G	18	45916206	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.G3385C:p.A1129P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.G10C:p.A4P;ENSG00000152223:ENST00000592272:exon2:c.G10C:p.A4P;ENSG00000152223:ENST00000282041:exon19:c.G3385C:p.A1129P;ENSG00000152223:ENST00000590884:exon2:c.G10C:p.A4P;	0.998475392620846	0.904
18	43496171	C	T	18	45916206	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon19:c.G3385A:p.A1129T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon2:c.G10A:p.A4T;ENSG00000152223:ENST00000592272:exon2:c.G10A:p.A4T;ENSG00000152223:ENST00000282041:exon19:c.G3385A:p.A1129T;ENSG00000152223:ENST00000590884:exon2:c.G10A:p.A4T;	0.145985025910238	0.336
18	43496172	C	A	18	45916207	y	y	splicing	EPG5(NM_020964:exon20:c.3385-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3385-1G>T;ENST00000587884:exon3:c.10-1G>T;ENST00000590884:exon3:c.10-1G>T;ENST00000592272:exon3:c.10-1G>T)	.	.	0.999989072007339	0.934
18	43496172	C	G	18	45916207	y	y	splicing	EPG5(NM_020964:exon20:c.3385-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3385-1G>C;ENST00000587884:exon3:c.10-1G>C;ENST00000590884:exon3:c.10-1G>C;ENST00000592272:exon3:c.10-1G>C)	.	.	0.999989072007339	0.934
18	43496172	C	T	18	45916207	y	y	splicing	EPG5(NM_020964:exon20:c.3385-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3385-1G>A;ENST00000587884:exon3:c.10-1G>A;ENST00000590884:exon3:c.10-1G>A;ENST00000592272:exon3:c.10-1G>A)	.	.	0.999989072007339	0.934
18	43496173	T	A	18	45916208	y	y	splicing	EPG5(NM_020964:exon20:c.3385-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3385-2A>T;ENST00000587884:exon3:c.10-2A>T;ENST00000590884:exon3:c.10-2A>T;ENST00000592272:exon3:c.10-2A>T)	.	.	0.999988247793601	0.932
18	43496173	T	C	18	45916208	y	y	splicing	EPG5(NM_020964:exon20:c.3385-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3385-2A>G;ENST00000587884:exon3:c.10-2A>G;ENST00000590884:exon3:c.10-2A>G;ENST00000592272:exon3:c.10-2A>G)	.	.	0.999988247793601	0.93
18	43496173	T	G	18	45916208	y	y	splicing	EPG5(NM_020964:exon20:c.3385-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon20:c.3385-2A>C;ENST00000587884:exon3:c.10-2A>C;ENST00000590884:exon3:c.10-2A>C;ENST00000592272:exon3:c.10-2A>C)	.	.	0.999988247793601	0.93
18	43496174	G	A	18	45916209	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0018385498097064	0.118
18	43496174	G	C	18	45916209	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998255944809392	0.778
18	43496174	G	T	18	45916209	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.44641914874149	0.44
18	43496175	T	A	18	45916210	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.27314887221942E-4	0.056
18	43496175	T	C	18	45916210	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.72415902301799E-4	0.004
18	43496175	T	G	18	45916210	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.19304233277734E-4	0.008
18	43496176	G	A	18	45916211	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.72112039988126E-5	0.024
18	43496176	G	C	18	45916211	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.86401437193987E-4	0.102
18	43496176	G	T	18	45916211	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.40078387970025E-4	0.038
18	43496177	G	A	18	45916212	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.3926783866427E-4	0.05
18	43496177	G	C	18	45916212	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0350334267579232	0.184
18	43496177	G	T	18	45916212	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00966590492033013	0.156
18	43496178	A	C	18	45916213	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0205193439603243	0.126
18	43496178	A	G	18	45916213	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.27908174668082E-4	0.002
18	43496178	A	T	18	45916213	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0434127717340184	0.136
18	43496179	G	A	18	45916214	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.44102826051583E-4	0.042
18	43496179	G	C	18	45916214	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00287790233312837	0.09
18	43496179	G	T	18	45916214	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00607772992358835	0.05
18	43496180	A	C	18	45916215	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0737635869096392	0.186
18	43496180	A	G	18	45916215	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0019328306093417	0.02
18	43496180	A	T	18	45916215	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0605028431625139	0.188
18	43496181	A	C	18	45916216	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00135965566195226	0.088
18	43496181	A	G	18	45916216	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.84343004204481E-5	0.012
18	43496181	A	T	18	45916216	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00769194315798815	0.07
18	43496182	A	C	18	45916217	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00104683819955828	0.174
18	43496182	A	G	18	45916217	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.27597519809051E-4	0.072
18	43496182	A	T	18	45916217	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0177114319042202	0.25
18	43496183	A	C	18	45916218	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00350762702282796	0.052
18	43496183	A	G	18	45916218	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.53330802238513E-4	0.008
18	43496183	A	T	18	45916218	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0131545094410887	0.128
18	43496395	G	A	18	45916430	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.3056449615908E-4	0.0
18	43496395	G	C	18	45916430	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.86351849847316E-4	0.006
18	43496395	G	T	18	45916430	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.00106947490559E-4	0.008
18	43496396	C	A	18	45916431	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.92656068586028E-4	0.008
18	43496396	C	G	18	45916431	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.85630499499774E-4	0.0
18	43496396	C	T	18	45916431	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.90783894462196E-4	0.002
18	43496397	C	A	18	45916432	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.4336065069849E-5	0.004
18	43496397	C	G	18	45916432	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.15056735027081E-4	0.026
18	43496397	C	T	18	45916432	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.10320980448502E-4	0.014
18	43496398	C	A	18	45916433	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.9993351664318	0.84
18	43496398	C	G	18	45916433	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.868402203761479	0.584
18	43496398	C	T	18	45916433	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.905059394121267	0.788
18	43496399	T	A	18	45916434	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.716415208375444	0.5
18	43496399	T	C	18	45916434	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.688535272165468	0.576
18	43496399	T	G	18	45916434	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.258697929032609	0.38
18	43496400	C	A	18	45916435	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0280143952747986	0.256
18	43496400	C	G	18	45916435	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.014950463132664	0.204
18	43496400	C	T	18	45916435	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.34395007245021E-6	0.0
18	43496401	A	C	18	45916436	y	y	splicing	EPG5(NM_020964:exon19:c.3384+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3384+2T>G;ENST00000587884:exon2:c.9+2T>G;ENST00000590884:exon2:c.9+2T>G;ENST00000592272:exon2:c.9+2T>G)	.	.	0.999957916644774	0.9
18	43496401	A	G	18	45916436	y	y	splicing	EPG5(NM_020964:exon19:c.3384+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3384+2T>C;ENST00000587884:exon2:c.9+2T>C;ENST00000590884:exon2:c.9+2T>C;ENST00000592272:exon2:c.9+2T>C)	.	.	0.999898316872806	0.812
18	43496401	A	T	18	45916436	y	y	splicing	EPG5(NM_020964:exon19:c.3384+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3384+2T>A;ENST00000587884:exon2:c.9+2T>A;ENST00000590884:exon2:c.9+2T>A;ENST00000592272:exon2:c.9+2T>A)	.	.	0.999957916644774	0.9
18	43496402	C	A	18	45916437	y	y	splicing	EPG5(NM_020964:exon19:c.3384+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3384+1G>T;ENST00000587884:exon2:c.9+1G>T;ENST00000590884:exon2:c.9+1G>T;ENST00000592272:exon2:c.9+1G>T)	.	.	0.999990361384395	0.938
18	43496402	C	G	18	45916437	y	y	splicing	EPG5(NM_020964:exon19:c.3384+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3384+1G>C;ENST00000587884:exon2:c.9+1G>C;ENST00000590884:exon2:c.9+1G>C;ENST00000592272:exon2:c.9+1G>C)	.	.	0.999990361384395	0.938
18	43496402	C	T	18	45916437	y	y	splicing	EPG5(NM_020964:exon19:c.3384+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3384+1G>A;ENST00000587884:exon2:c.9+1G>A;ENST00000590884:exon2:c.9+1G>A;ENST00000592272:exon2:c.9+1G>A)	.	.	0.999990361384395	0.938
18	43496403	C	A	18	45916438	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.G3384T:p.Q1128H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon1:c.G9T:p.Q3H;ENSG00000152223:ENST00000592272:exon1:c.G9T:p.Q3H;ENSG00000152223:ENST00000282041:exon18:c.G3384T:p.Q1128H;ENSG00000152223:ENST00000590884:exon1:c.G9T:p.Q3H;	0.999909090476543	0.994
18	43496403	C	G	18	45916438	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.G3384C:p.Q1128H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon1:c.G9C:p.Q3H;ENSG00000152223:ENST00000592272:exon1:c.G9C:p.Q3H;ENSG00000152223:ENST00000282041:exon18:c.G3384C:p.Q1128H;ENSG00000152223:ENST00000590884:exon1:c.G9C:p.Q3H;	0.999983811370455	0.998
18	43496403	C	T	18	45916438	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon18:c.G3384A:p.Q1128Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000587884:exon1:c.G9A:p.Q3Q;ENSG00000152223:ENST00000592272:exon1:c.G9A:p.Q3Q;ENSG00000152223:ENST00000282041:exon18:c.G3384A:p.Q1128Q;ENSG00000152223:ENST00000590884:exon1:c.G9A:p.Q3Q;	0.997712269384045	0.918
18	43496404	T	A	18	45916439	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.A3383T:p.Q1128L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon1:c.A8T:p.Q3L;ENSG00000152223:ENST00000592272:exon1:c.A8T:p.Q3L;ENSG00000152223:ENST00000282041:exon18:c.A3383T:p.Q1128L;ENSG00000152223:ENST00000590884:exon1:c.A8T:p.Q3L;	0.995748579490603	0.894
18	43496404	T	C	18	45916439	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.A3383G:p.Q1128R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon1:c.A8G:p.Q3R;ENSG00000152223:ENST00000592272:exon1:c.A8G:p.Q3R;ENSG00000152223:ENST00000282041:exon18:c.A3383G:p.Q1128R;ENSG00000152223:ENST00000590884:exon1:c.A8G:p.Q3R;	0.997977235041574	0.978
18	43496404	T	G	18	45916439	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.A3383C:p.Q1128P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon1:c.A8C:p.Q3P;ENSG00000152223:ENST00000592272:exon1:c.A8C:p.Q3P;ENSG00000152223:ENST00000282041:exon18:c.A3383C:p.Q1128P;ENSG00000152223:ENST00000590884:exon1:c.A8C:p.Q3P;	0.995097651264952	0.9
18	43496405	G	A	18	45916440	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon18:c.C3382T:p.Q1128X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000587884:exon1:c.C7T:p.Q3X;ENSG00000152223:ENST00000592272:exon1:c.C7T:p.Q3X;ENSG00000152223:ENST00000282041:exon18:c.C3382T:p.Q1128X;ENSG00000152223:ENST00000590884:exon1:c.C7T:p.Q3X;	0.997605723447815	0.872
18	43496405	G	C	18	45916440	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.C3382G:p.Q1128E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon1:c.C7G:p.Q3E;ENSG00000152223:ENST00000592272:exon1:c.C7G:p.Q3E;ENSG00000152223:ENST00000282041:exon18:c.C3382G:p.Q1128E;ENSG00000152223:ENST00000590884:exon1:c.C7G:p.Q3E;	0.720503147934324	0.54
18	43496405	G	T	18	45916440	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.C3382A:p.Q1128K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000587884:exon1:c.C7A:p.Q3K;ENSG00000152223:ENST00000592272:exon1:c.C7A:p.Q3K;ENSG00000152223:ENST00000282041:exon18:c.C3382A:p.Q1128K;ENSG00000152223:ENST00000590884:exon1:c.C7A:p.Q3K;	0.948679009379369	0.792
18	43496546	A	C	18	45916581	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.T3241G:p.F1081V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon18:c.T3241G:p.F1081V;	0.819823728852417	0.36
18	43496546	A	G	18	45916581	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.T3241C:p.F1081L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon18:c.T3241C:p.F1081L;	0.848513616743408	0.42
18	43496546	A	T	18	45916581	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.T3241A:p.F1081I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon18:c.T3241A:p.F1081I;	0.878452690678755	0.404
18	43496547	C	A	18	45916582	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.G3240T:p.Q1080H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon18:c.G3240T:p.Q1080H;	0.999836136273707	0.986
18	43496547	C	G	18	45916582	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon18:c.G3240C:p.Q1080H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon18:c.G3240C:p.Q1080H;	0.99982449695847	0.986
18	43496547	C	T	18	45916582	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon18:c.G3240A:p.Q1080Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon18:c.G3240A:p.Q1080Q;	0.812221970126589	0.576
18	43496548	C	A	18	45916583	y	y	splicing	EPG5(NM_020964:exon19:c.3240-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3240-1G>T)	.	.	0.999989072007339	0.946
18	43496548	C	G	18	45916583	y	y	splicing	EPG5(NM_020964:exon19:c.3240-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3240-1G>C)	.	.	0.999989072007339	0.946
18	43496548	C	T	18	45916583	y	y	splicing	EPG5(NM_020964:exon19:c.3240-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3240-1G>A)	.	.	0.999989072007339	0.946
18	43496549	T	A	18	45916584	y	y	splicing	EPG5(NM_020964:exon19:c.3240-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3240-2A>T)	.	.	0.999988247793601	0.942
18	43496549	T	C	18	45916584	y	y	splicing	EPG5(NM_020964:exon19:c.3240-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3240-2A>G)	.	.	0.999988247793601	0.942
18	43496549	T	G	18	45916584	y	y	splicing	EPG5(NM_020964:exon19:c.3240-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon19:c.3240-2A>C)	.	.	0.999988247793601	0.942
18	43496550	G	A	18	45916585	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0198574895980191	0.102
18	43496550	G	C	18	45916585	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999445933324223	0.888
18	43496550	G	T	18	45916585	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.598666166031118	0.648
18	43496551	C	A	18	45916586	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00172706309641492	0.03
18	43496551	C	G	18	45916586	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.13810726209537E-4	0.022
18	43496551	C	T	18	45916586	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00161642278155955	0.038
18	43496552	C	A	18	45916587	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.70414912842622E-5	0.02
18	43496552	C	G	18	45916587	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.66925944631665E-5	0.0
18	43496552	C	T	18	45916587	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.930435878318611	0.654
18	43496553	A	C	18	45916588	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00949647898439086	0.3
18	43496553	A	G	18	45916588	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.25419138001679E-5	0.022
18	43496553	A	T	18	45916588	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998978603271802	0.902
18	43496554	A	C	18	45916589	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00762329613485625	0.048
18	43496554	A	G	18	45916589	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.37200852406895E-4	0.052
18	43496554	A	T	18	45916589	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00839067593796888	0.062
18	43496555	G	A	18	45916590	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.30019494395801E-5	0.0
18	43496555	G	C	18	45916590	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.51431608650568E-4	0.016
18	43496555	G	T	18	45916590	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.869629674203E-4	0.018
18	43496556	C	A	18	45916591	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.43741817872319E-5	0.006
18	43496556	C	G	18	45916591	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.37909372575263E-5	0.008
18	43496556	C	T	18	45916591	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00349788108152378	0.058
18	43496557	A	C	18	45916592	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.97606150336139	0.868
18	43496557	A	G	18	45916592	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0802016920099568	0.286
18	43496557	A	T	18	45916592	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999949050901154	0.98
18	43496558	C	A	18	45916593	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.23925986411451E-4	0.03
18	43496558	C	G	18	45916593	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.90276118415573E-4	0.024
18	43496558	C	T	18	45916593	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00969412252898826	0.18
18	43496559	A	C	18	45916594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.795155771920912	0.766
18	43496559	A	G	18	45916594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.42348095781092E-4	0.068
18	43496559	A	T	18	45916594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999897896865101	0.972
18	43497636	A	C	18	45917671	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.19757869060871E-5	0.0
18	43497636	A	G	18	45917671	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.54138519276573E-5	0.0
18	43497636	A	T	18	45917671	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.10606531421503E-5	0.002
18	43497637	C	A	18	45917672	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.71269048377333E-5	0.0
18	43497637	C	G	18	45917672	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.58368892623539E-5	0.0
18	43497637	C	T	18	45917672	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.86424569694714E-5	0.0
18	43497638	A	C	18	45917673	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.972717894304047	0.728
18	43497638	A	G	18	45917673	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.992812590812142	0.788
18	43497638	A	T	18	45917673	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.9673230442896	0.686
18	43497639	C	A	18	45917674	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99997738281051	0.998
18	43497639	C	G	18	45917674	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999993155590346	0.986
18	43497639	C	T	18	45917674	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999982829168138	0.994
18	43497640	T	A	18	45917675	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.957412800561548	0.812
18	43497640	T	C	18	45917675	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.909391851189819	0.788
18	43497640	T	G	18	45917675	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.794900961690482	0.6
18	43497641	T	A	18	45917676	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998859032728244	0.822
18	43497641	T	C	18	45917676	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00103448264816928	0.044
18	43497641	T	G	18	45917676	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996381303339707	0.836
18	43497642	A	C	18	45917677	y	y	splicing	EPG5(NM_020964:exon18:c.3239+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3239+2T>G)	.	.	0.999988247793601	0.928
18	43497642	A	G	18	45917677	y	y	splicing	EPG5(NM_020964:exon18:c.3239+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3239+2T>C)	.	.	0.98918007292081	0.642
18	43497642	A	T	18	45917677	y	y	splicing	EPG5(NM_020964:exon18:c.3239+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3239+2T>A)	.	.	0.999988247793601	0.928
18	43497643	C	A	18	45917678	y	y	splicing	EPG5(NM_020964:exon18:c.3239+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3239+1G>T)	.	.	0.999990361384395	0.934
18	43497643	C	G	18	45917678	y	y	splicing	EPG5(NM_020964:exon18:c.3239+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3239+1G>C)	.	.	0.999990361384395	0.938
18	43497643	C	T	18	45917678	y	y	splicing	EPG5(NM_020964:exon18:c.3239+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3239+1G>A)	.	.	0.999990361384395	0.936
18	43497644	T	A	18	45917679	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.A3239T:p.Q1080L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.A3239T:p.Q1080L;	0.001279291665205	0.112
18	43497644	T	C	18	45917679	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.A3239G:p.Q1080R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.A3239G:p.Q1080R;	6.03188209435651E-5	0.174
18	43497644	T	G	18	45917679	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.A3239C:p.Q1080P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.A3239C:p.Q1080P;	0.0405562802735557	0.108
18	43497645	G	A	18	45917680	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon17:c.C3238T:p.Q1080X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon17:c.C3238T:p.Q1080X;	0.992726253268577	0.894
18	43497645	G	C	18	45917680	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.C3238G:p.Q1080E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.C3238G:p.Q1080E;	0.609257403016456	0.538
18	43497645	G	T	18	45917680	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.C3238A:p.Q1080K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.C3238A:p.Q1080K;	0.00517346048120222	0.098
18	43497646	C	A	18	45917681	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.G3237T:p.E1079D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.G3237T:p.E1079D;	3.47834774501196E-4	0.032
18	43497646	C	G	18	45917681	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.G3237C:p.E1079D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.G3237C:p.E1079D;	2.14802663037295E-4	0.014
18	43497646	C	T	18	45917681	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon17:c.G3237A:p.E1079E;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.G3237A:p.E1079E;	8.43182766121555E-5	0.002
18	43497783	T	A	18	45917818	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.A3100T:p.I1034F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.A3100T:p.I1034F;	4.24089247319429E-5	0.002
18	43497783	T	C	18	45917818	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.A3100G:p.I1034V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.A3100G:p.I1034V;	1.07924203933583E-4	0.008
18	43497783	T	G	18	45917818	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.A3100C:p.I1034L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.A3100C:p.I1034L;	5.79890252024527E-5	0.004
18	43497784	G	A	18	45917819	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon17:c.C3099T:p.S1033S;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.C3099T:p.S1033S;	2.0263819694897E-4	0.198
18	43497784	G	C	18	45917819	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.C3099G:p.S1033R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.C3099G:p.S1033R;	4.46197603265405E-4	0.076
18	43497784	G	T	18	45917819	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon17:c.C3099A:p.S1033R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon17:c.C3099A:p.S1033R;	2.65089039286949E-4	0.054
18	43497785	C	A	18	45917820	y	y	splicing	EPG5(NM_020964:exon18:c.3099-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3099-1G>T)	.	.	0.99995586615188	0.948
18	43497785	C	G	18	45917820	y	y	splicing	EPG5(NM_020964:exon18:c.3099-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3099-1G>C)	.	.	0.99995586615188	0.946
18	43497785	C	T	18	45917820	y	y	splicing	EPG5(NM_020964:exon18:c.3099-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3099-1G>A)	.	.	0.99995586615188	0.948
18	43497786	T	A	18	45917821	y	y	splicing	EPG5(NM_020964:exon18:c.3099-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3099-2A>T)	.	.	0.999946188727699	0.936
18	43497786	T	C	18	45917821	y	y	splicing	EPG5(NM_020964:exon18:c.3099-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3099-2A>G)	.	.	0.999964896440643	0.934
18	43497786	T	G	18	45917821	y	y	splicing	EPG5(NM_020964:exon18:c.3099-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon18:c.3099-2A>C)	.	.	0.999964896440643	0.934
18	43497787	A	C	18	45917822	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.771234025359855	0.648
18	43497787	A	G	18	45917822	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.27264595995376E-5	0.0
18	43497787	A	T	18	45917822	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00107118812472623	0.098
18	43497788	T	A	18	45917823	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.24530220349772E-5	0.028
18	43497788	T	C	18	45917823	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.60541402693871E-5	0.0
18	43497788	T	G	18	45917823	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.24913546350934E-6	0.002
18	43497789	G	A	18	45917824	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.18754770055449E-5	0.0
18	43497789	G	C	18	45917824	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.58632174822797E-4	0.074
18	43497789	G	T	18	45917824	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.42554892374854E-4	0.012
18	43497790	G	A	18	45917825	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.17101299108987E-5	0.002
18	43497790	G	C	18	45917825	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.01631348437044E-4	0.066
18	43497790	G	T	18	45917825	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00101623849371264	0.06
18	43497791	A	C	18	45917826	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.49232134093399E-4	0.002
18	43497791	A	G	18	45917826	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.2193560289328E-5	0.0
18	43497791	A	T	18	45917826	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.73065714642559E-4	0.028
18	43497792	A	C	18	45917827	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.1114760706415E-4	0.024
18	43497792	A	G	18	45917827	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.10412090361252E-5	0.006
18	43497792	A	T	18	45917827	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.59048307950334E-4	0.006
18	43497793	A	C	18	45917828	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.18358076698322E-4	0.04
18	43497793	A	G	18	45917828	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.54783533052586E-5	0.0
18	43497793	A	T	18	45917828	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.74842126027614E-4	0.04
18	43497794	A	C	18	45917829	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.14154183229301E-4	0.264
18	43497794	A	G	18	45917829	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.40608076695149E-4	0.03
18	43497794	A	T	18	45917829	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00166560122425259	0.23
18	43497795	A	C	18	45917830	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.8328238370906E-4	0.118
18	43497795	A	G	18	45917830	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.00801655026432E-4	0.028
18	43497795	A	T	18	45917830	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.15877238583423E-4	0.102
18	43497796	G	A	18	45917831	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.94954349908156E-5	0.0
18	43497796	G	C	18	45917831	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.63446498100459E-5	0.032
18	43497796	G	T	18	45917831	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.89905106978282E-4	0.016
18	43502299	C	A	18	45922333	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00159165145449999	0.014
18	43502299	C	G	18	45922333	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00281167670808178	0.016
18	43502299	C	T	18	45922333	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0036823826674578	0.03
18	43502300	A	C	18	45922334	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00114334865010844	0.01
18	43502300	A	G	18	45922334	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.35300791094475E-4	0.008
18	43502300	A	T	18	45922334	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00131566385872319	0.008
18	43502301	C	A	18	45922335	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.48301376917066E-4	0.064
18	43502301	C	G	18	45922335	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00884902376510626	0.162
18	43502301	C	T	18	45922335	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00772911220897527	0.146
18	43502302	T	A	18	45922336	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.12881133107554E-4	0.022
18	43502302	T	C	18	45922336	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.19431537572717E-4	0.076
18	43502302	T	G	18	45922336	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.0170668108926E-4	0.02
18	43502303	G	A	18	45922337	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.36120400236824E-4	0.162
18	43502303	G	C	18	45922337	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.60198951501039E-4	0.14
18	43502303	G	T	18	45922337	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.33522979106325E-4	0.06
18	43502304	T	A	18	45922338	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999887267481904	0.964
18	43502304	T	C	18	45922338	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999336748350826	0.952
18	43502304	T	G	18	45922338	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999959083896026	0.96
18	43502305	A	C	18	45922339	y	y	splicing	EPG5(NM_020964:exon17:c.3098+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.3098+2T>G)	.	.	0.999992446697775	0.93
18	43502305	A	G	18	45922339	y	y	splicing	EPG5(NM_020964:exon17:c.3098+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.3098+2T>C)	.	.	0.99303099408625	0.624
18	43502305	A	T	18	45922339	y	y	splicing	EPG5(NM_020964:exon17:c.3098+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.3098+2T>A)	.	.	0.999992446697775	0.93
18	43502306	C	A	18	45922340	y	y	splicing	EPG5(NM_020964:exon17:c.3098+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.3098+1G>T)	.	.	0.999988247793601	0.924
18	43502306	C	G	18	45922340	y	y	splicing	EPG5(NM_020964:exon17:c.3098+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.3098+1G>C)	.	.	0.999988247793601	0.924
18	43502306	C	T	18	45922340	y	y	splicing	EPG5(NM_020964:exon17:c.3098+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.3098+1G>A)	.	.	0.999988247793601	0.924
18	43502307	C	A	18	45922341	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.G3098T:p.S1033I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.G3098T:p.S1033I;	0.999994228525945	0.996
18	43502307	C	G	18	45922341	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.G3098C:p.S1033T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.G3098C:p.S1033T;	0.9999979076122	0.996
18	43502307	C	T	18	45922341	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.G3098A:p.S1033N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.G3098A:p.S1033N;	0.999993692428323	0.998
18	43502308	T	A	18	45922342	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.A3097T:p.S1033C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.A3097T:p.S1033C;	0.999852977409527	0.952
18	43502308	T	C	18	45922342	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.A3097G:p.S1033G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.A3097G:p.S1033G;	0.99946518313575	0.968
18	43502308	T	G	18	45922342	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.A3097C:p.S1033R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.A3097C:p.S1033R;	0.99982178757021	0.998
18	43502309	G	A	18	45922343	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon16:c.C3096T:p.H1032H;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.C3096T:p.H1032H;	0.995085687314096	0.822
18	43502309	G	C	18	45922343	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.C3096G:p.H1032Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.C3096G:p.H1032Q;	0.888708267414937	0.606
18	43502309	G	T	18	45922343	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.C3096A:p.H1032Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.C3096A:p.H1032Q;	0.757887430884861	0.59
18	43502565	A	C	18	45922599	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.T2840G:p.V947G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.T2840G:p.V947G;	0.932223936754261	0.512
18	43502565	A	G	18	45922599	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.T2840C:p.V947A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.T2840C:p.V947A;	0.927685000198282	0.594
18	43502565	A	T	18	45922599	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.T2840A:p.V947D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.T2840A:p.V947D;	0.948116469176523	0.532
18	43502566	C	A	18	45922600	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.G2839T:p.V947F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.G2839T:p.V947F;	0.999953616847055	0.994
18	43502566	C	G	18	45922600	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.G2839C:p.V947L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.G2839C:p.V947L;	0.999939732935123	0.976
18	43502566	C	T	18	45922600	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon16:c.G2839A:p.V947I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon16:c.G2839A:p.V947I;	0.999888602879138	0.964
18	43502567	C	A	18	45922601	y	y	splicing	EPG5(NM_020964:exon17:c.2839-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.2839-1G>T)	.	.	0.999989125585301	0.944
18	43502567	C	G	18	45922601	y	y	splicing	EPG5(NM_020964:exon17:c.2839-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.2839-1G>C)	.	.	0.999989125585301	0.944
18	43502567	C	T	18	45922601	y	y	splicing	EPG5(NM_020964:exon17:c.2839-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.2839-1G>A)	.	.	0.999989125585301	0.944
18	43502568	T	A	18	45922602	y	y	splicing	EPG5(NM_020964:exon17:c.2839-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.2839-2A>T)	.	.	0.999986741007567	0.946
18	43502568	T	C	18	45922602	y	y	splicing	EPG5(NM_020964:exon17:c.2839-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.2839-2A>G)	.	.	0.999986741007567	0.946
18	43502568	T	G	18	45922602	y	y	splicing	EPG5(NM_020964:exon17:c.2839-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon17:c.2839-2A>C)	.	.	0.999986741007567	0.946
18	43502569	A	C	18	45922603	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996966388212145	0.772
18	43502569	A	G	18	45922603	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.48453469167963E-4	0.02
18	43502569	A	T	18	45922603	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.758569665075413	0.522
18	43502570	A	C	18	45922604	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0129341588767832	0.15
18	43502570	A	G	18	45922604	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.62170174614763E-4	0.158
18	43502570	A	T	18	45922604	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00286636452771348	0.052
18	43502571	A	C	18	45922605	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997818530378773	0.954
18	43502571	A	G	18	45922605	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.897880405922575	0.602
18	43502571	A	T	18	45922605	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998896509599651	0.96
18	43502572	A	C	18	45922606	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997314756697198	0.846
18	43502572	A	G	18	45922606	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0252085732533561	0.292
18	43502572	A	T	18	45922606	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.985953247584359	0.822
18	43502573	C	A	18	45922607	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.79406142439233E-4	0.078
18	43502573	C	G	18	45922607	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.38564086005679E-4	0.072
18	43502573	C	T	18	45922607	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00793023419102884	0.1
18	43502574	A	C	18	45922608	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0465620382507208	0.404
18	43502574	A	G	18	45922608	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.36939228849461E-4	0.058
18	43502574	A	T	18	45922608	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999923158769524	0.98
18	43502575	A	C	18	45922609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999980128907124	0.97
18	43502575	A	G	18	45922609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0171226924771258	0.098
18	43502575	A	T	18	45922609	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.954214984431637	0.746
18	43502576	T	A	18	45922610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.86314202057938E-6	0.122
18	43502576	T	C	18	45922610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996213529623582	0.938
18	43502576	T	G	18	45922610	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.68819402977368E-6	0.018
18	43502577	T	A	18	45922611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.01458634810989E-5	0.098
18	43502577	T	C	18	45922611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.88339732281489E-6	0.11
18	43502577	T	G	18	45922611	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.96298210837984E-5	0.1
18	43502578	A	C	18	45922612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999947728985041	0.982
18	43502578	A	G	18	45922612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00503765639555805	0.184
18	43502578	A	T	18	45922612	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.933398492715075	0.746
18	43503226	G	A	18	45923260	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.86457714662764E-5	0.088
18	43503226	G	C	18	45923260	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.27190899529762E-4	0.072
18	43503226	G	T	18	45923260	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.27190899529762E-4	0.078
18	43503227	G	A	18	45923261	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.51062133475531E-4	0.132
18	43503227	G	C	18	45923261	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00105645494128447	0.016
18	43503227	G	T	18	45923261	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.39551320025755E-4	0.004
18	43503228	A	C	18	45923262	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00115897031446629	0.204
18	43503228	A	G	18	45923262	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0173766856703251	0.272
18	43503228	A	T	18	45923262	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00940282418961693	0.16
18	43503229	A	C	18	45923263	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.63057704758272E-4	0.032
18	43503229	A	G	18	45923263	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0019967215787262	0.024
18	43503229	A	T	18	45923263	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00125567961240238	0.018
18	43503230	A	C	18	45923264	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.8074693648542E-4	0.022
18	43503230	A	G	18	45923264	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.44404090657984E-4	0.074
18	43503230	A	T	18	45923264	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.62254572481319E-4	0.024
18	43503231	T	A	18	45923265	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999434703524049	0.972
18	43503231	T	C	18	45923265	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999753318827002	0.948
18	43503231	T	G	18	45923265	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999935767671126	0.96
18	43503232	A	C	18	45923266	y	y	splicing	EPG5(NM_020964:exon16:c.2838+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2838+2T>G)	.	.	0.999988247793601	0.928
18	43503232	A	G	18	45923266	y	y	splicing	EPG5(NM_020964:exon16:c.2838+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2838+2T>C)	.	.	0.99340600729494	0.662
18	43503232	A	T	18	45923266	y	y	splicing	EPG5(NM_020964:exon16:c.2838+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2838+2T>A)	.	.	0.999988247793601	0.928
18	43503233	C	A	18	45923267	y	y	splicing	EPG5(NM_020964:exon16:c.2838+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2838+1G>T)	.	.	0.999985532734767	0.938
18	43503233	C	G	18	45923267	y	y	splicing	EPG5(NM_020964:exon16:c.2838+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2838+1G>C)	.	.	0.999985532734767	0.938
18	43503233	C	T	18	45923267	y	y	splicing	EPG5(NM_020964:exon16:c.2838+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2838+1G>A)	.	.	0.999985532734767	0.938
18	43503234	C	A	18	45923268	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.G2838T:p.Q946H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.G2838T:p.Q946H;	0.999981834634186	1.0
18	43503234	C	G	18	45923268	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.G2838C:p.Q946H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.G2838C:p.Q946H;	0.999996767810372	1.0
18	43503234	C	T	18	45923268	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon15:c.G2838A:p.Q946Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.G2838A:p.Q946Q;	0.999961896111659	0.992
18	43503235	T	A	18	45923269	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.A2837T:p.Q946L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.A2837T:p.Q946L;	0.999926332793842	0.992
18	43503235	T	C	18	45923269	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.A2837G:p.Q946R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.A2837G:p.Q946R;	0.999926730706469	1.0
18	43503235	T	G	18	45923269	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.A2837C:p.Q946P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.A2837C:p.Q946P;	0.999907684930886	0.996
18	43503236	G	A	18	45923270	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon15:c.C2836T:p.Q946X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon15:c.C2836T:p.Q946X;	0.999711091352563	0.99
18	43503236	G	C	18	45923270	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.C2836G:p.Q946E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.C2836G:p.Q946E;	0.947316501441016	0.652
18	43503236	G	T	18	45923270	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.C2836A:p.Q946K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.C2836A:p.Q946K;	0.896363204166685	0.782
18	43503352	G	A	18	45923386	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.C2720T:p.A907V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.C2720T:p.A907V;	1.50531138553899E-4	0.004
18	43503352	G	C	18	45923386	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.C2720G:p.A907G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.C2720G:p.A907G;	5.68518463815622E-5	0.0
18	43503352	G	T	18	45923386	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.C2720A:p.A907D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.C2720A:p.A907D;	2.85899155198281E-4	0.102
18	43503353	C	A	18	45923387	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.G2719T:p.A907S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.G2719T:p.A907S;	0.825573020409735	0.758
18	43503353	C	G	18	45923387	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.G2719C:p.A907P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.G2719C:p.A907P;	0.61513742570842	0.69
18	43503353	C	T	18	45923387	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon15:c.G2719A:p.A907T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon15:c.G2719A:p.A907T;	0.522215236730347	0.462
18	43503354	C	A	18	45923388	y	y	splicing	EPG5(NM_020964:exon16:c.2719-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2719-1G>T)	.	.	0.999981760802075	0.952
18	43503354	C	G	18	45923388	y	y	splicing	EPG5(NM_020964:exon16:c.2719-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2719-1G>C)	.	.	0.999981760802075	0.952
18	43503354	C	T	18	45923388	y	y	splicing	EPG5(NM_020964:exon16:c.2719-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2719-1G>A)	.	.	0.999981760802075	0.952
18	43503355	T	A	18	45923389	y	y	splicing	EPG5(NM_020964:exon16:c.2719-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2719-2A>T)	.	.	0.999989917668626	0.946
18	43503355	T	C	18	45923389	y	y	splicing	EPG5(NM_020964:exon16:c.2719-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2719-2A>G)	.	.	0.999989917668626	0.946
18	43503355	T	G	18	45923389	y	y	splicing	EPG5(NM_020964:exon16:c.2719-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon16:c.2719-2A>C)	.	.	0.999989917668626	0.946
18	43503356	T	A	18	45923390	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.97336075671208E-5	0.0
18	43503356	T	C	18	45923390	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.324516556590137	0.516
18	43503356	T	G	18	45923390	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.54764118887177E-4	0.07
18	43503357	T	A	18	45923391	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.66634231185525E-4	0.028
18	43503357	T	C	18	45923391	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999810489039948	0.986
18	43503357	T	G	18	45923391	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.10979789401582E-4	0.006
18	43503358	T	A	18	45923392	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.31954446061796E-5	0.004
18	43503358	T	C	18	45923392	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.59378199853657E-4	0.12
18	43503358	T	G	18	45923392	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.16860979702494E-5	0.0
18	43503359	A	C	18	45923393	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.78365431947677E-4	0.15
18	43503359	A	G	18	45923393	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.42151246268961E-5	0.0
18	43503359	A	T	18	45923393	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.31068165419204E-4	0.176
18	43503360	A	C	18	45923394	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00600690452015466	0.06
18	43503360	A	G	18	45923394	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.85233853687962E-4	0.046
18	43503360	A	T	18	45923394	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0039246877622575	0.062
18	43503361	A	C	18	45923395	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00178299569670872	0.146
18	43503361	A	G	18	45923395	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.32711690459909E-4	0.006
18	43503361	A	T	18	45923395	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00107273243921584	0.154
18	43503362	G	A	18	45923396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.75514493854052E-5	0.002
18	43503362	G	C	18	45923396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.31891118511106E-4	0.05
18	43503362	G	T	18	45923396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00868782688337053	0.092
18	43503363	A	C	18	45923397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0317083792670708	0.318
18	43503363	A	G	18	45923397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00177021714414159	0.13
18	43503363	A	T	18	45923397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0396279045635084	0.396
18	43503364	G	A	18	45923398	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.68879409084043E-5	0.002
18	43503364	G	C	18	45923398	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.7252968742365E-4	0.032
18	43503364	G	T	18	45923398	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00139666119344724	0.038
18	43503365	A	C	18	45923399	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00299541848722543	0.24
18	43503365	A	G	18	45923399	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00445405117272221	0.07
18	43503365	A	T	18	45923399	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00679771091940449	0.35
18	43505696	A	C	18	45925730	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.16587363234159E-5	0.0
18	43505696	A	G	18	45925730	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.52659791343599E-5	0.0
18	43505696	A	T	18	45925730	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.68632724264029E-5	0.0
18	43505697	C	A	18	45925731	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.95768867081143E-5	0.0
18	43505697	C	G	18	45925731	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.47348756796826E-5	0.0
18	43505697	C	T	18	45925731	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.58992702814738E-5	0.0
18	43505698	A	C	18	45925732	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.53177077677321E-4	0.212
18	43505698	A	G	18	45925732	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0106581800858152	0.336
18	43505698	A	T	18	45925732	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00170162879576336	0.168
18	43505699	C	A	18	45925733	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.889374797892013	0.468
18	43505699	C	G	18	45925733	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.773502711033577	0.416
18	43505699	C	T	18	45925733	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.757999961661049	0.442
18	43505700	A	C	18	45925734	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.08996034090615E-4	0.002
18	43505700	A	G	18	45925734	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.3841681531536E-4	0.012
18	43505700	A	T	18	45925734	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.41969735670654E-5	0.06
18	43505701	T	A	18	45925735	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.863198244755414	0.522
18	43505701	T	C	18	45925735	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.788763772104452	0.636
18	43505701	T	G	18	45925735	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.883107074714572	0.722
18	43505702	A	C	18	45925736	y	y	splicing	EPG5(NM_020964:exon15:c.2718+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2718+2T>G)	.	.	0.99994568797423	0.94
18	43505702	A	G	18	45925736	y	y	splicing	EPG5(NM_020964:exon15:c.2718+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2718+2T>C)	.	.	0.983733593864557	0.648
18	43505702	A	T	18	45925736	y	y	splicing	EPG5(NM_020964:exon15:c.2718+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2718+2T>A)	.	.	0.99994568797423	0.92
18	43505703	C	A	18	45925737	y	y	splicing	EPG5(NM_020964:exon15:c.2718+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2718+1G>T)	.	.	0.99993314117114	0.93
18	43505703	C	G	18	45925737	y	y	splicing	EPG5(NM_020964:exon15:c.2718+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2718+1G>C)	.	.	0.99993314117114	0.93
18	43505703	C	T	18	45925737	y	y	splicing	EPG5(NM_020964:exon15:c.2718+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2718+1G>A)	.	.	0.999963884237991	0.93
18	43505704	C	A	18	45925738	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.G2718T:p.Q906H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.G2718T:p.Q906H;	0.999269393177714	0.944
18	43505704	C	G	18	45925738	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.G2718C:p.Q906H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.G2718C:p.Q906H;	0.995683009570359	0.638
18	43505704	C	T	18	45925738	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon14:c.G2718A:p.Q906Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.G2718A:p.Q906Q;	0.859826943924401	0.54
18	43505705	T	A	18	45925739	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.A2717T:p.Q906L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.A2717T:p.Q906L;	0.995086600662784	0.912
18	43505705	T	C	18	45925739	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.A2717G:p.Q906R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.A2717G:p.Q906R;	0.943746087848831	0.68
18	43505705	T	G	18	45925739	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.A2717C:p.Q906P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.A2717C:p.Q906P;	0.988206875201271	0.89
18	43505706	G	A	18	45925740	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon14:c.C2716T:p.Q906X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon14:c.C2716T:p.Q906X;	0.993875260010014	0.878
18	43505706	G	C	18	45925740	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.C2716G:p.Q906E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.C2716G:p.Q906E;	0.00185765925224576	0.106
18	43505706	G	T	18	45925740	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.C2716A:p.Q906K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.C2716A:p.Q906K;	0.00147224590506678	0.108
18	43505867	A	C	18	45925901	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.T2555G:p.V852G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.T2555G:p.V852G;	0.916674969838626	0.49
18	43505867	A	G	18	45925901	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.T2555C:p.V852A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.T2555C:p.V852A;	0.912423571308438	0.566
18	43505867	A	T	18	45925901	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.T2555A:p.V852D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.T2555A:p.V852D;	0.919469799627535	0.506
18	43505868	C	A	18	45925902	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.G2554T:p.V852F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.G2554T:p.V852F;	0.999964477686082	0.99
18	43505868	C	G	18	45925902	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.G2554C:p.V852L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.G2554C:p.V852L;	0.999949531807796	0.962
18	43505868	C	T	18	45925902	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon14:c.G2554A:p.V852I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon14:c.G2554A:p.V852I;	0.999780845049291	0.91
18	43505869	C	A	18	45925903	y	y	splicing	EPG5(NM_020964:exon15:c.2554-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2554-1G>T)	.	.	0.999992425382947	0.944
18	43505869	C	G	18	45925903	y	y	splicing	EPG5(NM_020964:exon15:c.2554-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2554-1G>C)	.	.	0.999992425382947	0.944
18	43505869	C	T	18	45925903	y	y	splicing	EPG5(NM_020964:exon15:c.2554-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2554-1G>A)	.	.	0.999992425382947	0.944
18	43505870	T	A	18	45925904	y	y	splicing	EPG5(NM_020964:exon15:c.2554-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2554-2A>T)	.	.	0.999990764389106	0.946
18	43505870	T	C	18	45925904	y	y	splicing	EPG5(NM_020964:exon15:c.2554-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2554-2A>G)	.	.	0.999990764389106	0.946
18	43505870	T	G	18	45925904	y	y	splicing	EPG5(NM_020964:exon15:c.2554-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon15:c.2554-2A>C)	.	.	0.999990764389106	0.946
18	43505871	T	A	18	45925905	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.28318511059132E-4	0.036
18	43505871	T	C	18	45925905	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.587408435789875	0.532
18	43505871	T	G	18	45925905	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.37710839162218E-4	0.074
18	43505872	A	C	18	45925906	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999753853008913	0.962
18	43505872	A	G	18	45925906	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.27471096774391E-4	0.022
18	43505872	A	T	18	45925906	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.56722270991523E-4	0.002
18	43505873	T	A	18	45925907	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.74640379793217E-4	0.016
18	43505873	T	C	18	45925907	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999828092152718	0.96
18	43505873	T	G	18	45925907	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.83438385052927E-4	0.02
18	43505874	T	A	18	45925908	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.80730948382228E-5	0.038
18	43505874	T	C	18	45925908	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.43530561513591E-4	0.05
18	43505874	T	G	18	45925908	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.86896196371129E-4	0.038
18	43505875	A	C	18	45925909	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00267635435734442	0.12
18	43505875	A	G	18	45925909	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.06502538018939E-5	0.022
18	43505875	A	T	18	45925909	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00662098131444937	0.116
18	43505876	A	C	18	45925910	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0793445408610098	0.304
18	43505876	A	G	18	45925910	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.33177450448722E-4	0.02
18	43505876	A	T	18	45925910	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.268868403395982	0.338
18	43505877	A	C	18	45925911	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.985460857349506	0.83
18	43505877	A	G	18	45925911	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00650492042194659	0.064
18	43505877	A	T	18	45925911	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.981879104518164	0.808
18	43505878	A	C	18	45925912	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.961906728444467	0.718
18	43505878	A	G	18	45925912	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0380289523266169	0.146
18	43505878	A	T	18	45925912	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996426717982729	0.812
18	43505879	A	C	18	45925913	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999603666519767	0.918
18	43505879	A	G	18	45925913	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998560020349538	0.688
18	43505879	A	T	18	45925913	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999856646439526	0.916
18	43505880	G	A	18	45925914	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.873324079994085	0.57
18	43505880	G	C	18	45925914	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.981382416393748	0.68
18	43505880	G	T	18	45925914	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994475469453776	0.706
18	43508827	G	A	18	45928861	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.14059708054902E-4	0.004
18	43508827	G	C	18	45928861	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.14059708054902E-4	0.002
18	43508827	G	T	18	45928861	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.14059708054902E-4	0.004
18	43508828	C	A	18	45928862	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.91848111353002E-5	0.008
18	43508828	C	G	18	45928862	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.93752461369013E-4	0.0
18	43508828	C	T	18	45928862	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.75775605593075E-4	0.0
18	43508829	T	A	18	45928863	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.21286724092587E-5	0.006
18	43508829	T	C	18	45928863	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.37059972381757E-4	0.006
18	43508829	T	G	18	45928863	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0020501969576927	0.036
18	43508830	C	A	18	45928864	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999725083972031	0.74
18	43508830	C	G	18	45928864	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999869867172948	0.976
18	43508830	C	T	18	45928864	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999867129974575	0.874
18	43508831	T	A	18	45928865	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997893951981152	0.906
18	43508831	T	C	18	45928865	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998844185369912	0.928
18	43508831	T	G	18	45928865	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998578070073311	0.912
18	43508832	T	A	18	45928866	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99953891658061	0.966
18	43508832	T	C	18	45928866	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.987711112573789	0.69
18	43508832	T	G	18	45928866	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999680642667749	0.98
18	43508833	A	C	18	45928867	y	y	splicing	EPG5(NM_020964:exon14:c.2553+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2553+2T>G)	.	.	0.999988247793601	0.932
18	43508833	A	G	18	45928867	y	y	splicing	EPG5(NM_020964:exon14:c.2553+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2553+2T>C)	.	.	0.999934643991786	0.896
18	43508833	A	T	18	45928867	y	y	splicing	EPG5(NM_020964:exon14:c.2553+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2553+2T>A)	.	.	0.999988247793601	0.932
18	43508834	C	A	18	45928868	y	y	splicing	EPG5(NM_020964:exon14:c.2553+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2553+1G>T)	.	.	0.999990361384395	0.938
18	43508834	C	G	18	45928868	y	y	splicing	EPG5(NM_020964:exon14:c.2553+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2553+1G>C)	.	.	0.999990361384395	0.938
18	43508834	C	T	18	45928868	y	y	splicing	EPG5(NM_020964:exon14:c.2553+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2553+1G>A)	.	.	0.999990361384395	0.938
18	43508835	C	A	18	45928869	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.G2553T:p.M851I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.G2553T:p.M851I;	0.999993937303208	0.998
18	43508835	C	G	18	45928869	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.G2553C:p.M851I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.G2553C:p.M851I;	0.9999898374189	0.95
18	43508835	C	T	18	45928869	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.G2553A:p.M851I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.G2553A:p.M851I;	0.999989401404497	0.99
18	43508836	A	C	18	45928870	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.T2552G:p.M851R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.T2552G:p.M851R;	0.625514373467212	0.562
18	43508836	A	G	18	45928870	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.T2552C:p.M851T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.T2552C:p.M851T;	0.0255045647417304	0.116
18	43508836	A	T	18	45928870	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.T2552A:p.M851K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.T2552A:p.M851K;	0.0022701826985061	0.07
18	43508837	T	A	18	45928871	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.A2551T:p.M851L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.A2551T:p.M851L;	0.910713713603364	0.596
18	43508837	T	C	18	45928871	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.A2551G:p.M851V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.A2551G:p.M851V;	0.0147973322057844	0.2
18	43508837	T	G	18	45928871	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.A2551C:p.M851L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.A2551C:p.M851L;	0.112506232494193	0.462
18	43508974	A	C	18	45929008	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.T2414G:p.V805G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.T2414G:p.V805G;	0.87947794679738	0.588
18	43508974	A	G	18	45929008	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.T2414C:p.V805A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.T2414C:p.V805A;	0.862443566885835	0.582
18	43508974	A	T	18	45929008	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.T2414A:p.V805E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.T2414A:p.V805E;	0.806584650346056	0.588
18	43508975	C	A	18	45929009	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.G2413T:p.V805L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.G2413T:p.V805L;	0.999939318006192	0.996
18	43508975	C	G	18	45929009	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.G2413C:p.V805L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.G2413C:p.V805L;	0.999905734357388	0.984
18	43508975	C	T	18	45929009	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon13:c.G2413A:p.V805I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon13:c.G2413A:p.V805I;	0.999520390793133	0.958
18	43508976	C	A	18	45929010	y	y	splicing	EPG5(NM_020964:exon14:c.2413-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2413-1G>T)	.	.	0.999990361384395	0.938
18	43508976	C	G	18	45929010	y	y	splicing	EPG5(NM_020964:exon14:c.2413-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2413-1G>C)	.	.	0.999990361384395	0.938
18	43508976	C	T	18	45929010	y	y	splicing	EPG5(NM_020964:exon14:c.2413-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2413-1G>A)	.	.	0.999990361384395	0.938
18	43508977	T	A	18	45929011	y	y	splicing	EPG5(NM_020964:exon14:c.2413-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2413-2A>T)	.	.	0.999988247793601	0.93
18	43508977	T	C	18	45929011	y	y	splicing	EPG5(NM_020964:exon14:c.2413-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2413-2A>G)	.	.	0.999988247793601	0.93
18	43508977	T	G	18	45929011	y	y	splicing	EPG5(NM_020964:exon14:c.2413-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon14:c.2413-2A>C)	.	.	0.999988247793601	0.93
18	43508978	A	C	18	45929012	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996651717595357	0.708
18	43508978	A	G	18	45929012	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.2939558978073E-5	0.008
18	43508978	A	T	18	45929012	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00292572441422548	0.316
18	43508979	A	C	18	45929013	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.21803362492214E-4	0.046
18	43508979	A	G	18	45929013	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.49391202637014E-5	0.002
18	43508979	A	T	18	45929013	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.53300014623751E-5	0.0
18	43508980	A	C	18	45929014	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999444114001293	0.938
18	43508980	A	G	18	45929014	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.52747603034206E-4	0.078
18	43508980	A	T	18	45929014	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0158636022137022	0.256
18	43508981	T	A	18	45929015	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.44162246401285E-4	0.01
18	43508981	T	C	18	45929015	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.13698546174792E-4	0.01
18	43508981	T	G	18	45929015	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.6385299961686E-4	0.008
18	43508982	G	A	18	45929016	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.24787684155224E-5	0.002
18	43508982	G	C	18	45929016	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.89330100912819E-4	0.034
18	43508982	G	T	18	45929016	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.41302692018043E-4	0.01
18	43508983	G	A	18	45929017	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.90156106565959E-5	0.004
18	43508983	G	C	18	45929017	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00161556507015464	0.05
18	43508983	G	T	18	45929017	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.54768482832273E-4	0.06
18	43508984	G	A	18	45929018	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.43829555812854E-5	0.0
18	43508984	G	C	18	45929018	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00130160821876129	0.062
18	43508984	G	T	18	45929018	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0019635258020301	0.088
18	43508985	G	A	18	45929019	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.43673631668907E-5	0.002
18	43508985	G	C	18	45929019	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.67640623018716E-4	0.064
18	43508985	G	T	18	45929019	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0019033531343334	0.074
18	43508986	G	A	18	45929020	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.00972122570847E-5	0.0
18	43508986	G	C	18	45929020	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.88252856340276E-5	0.038
18	43508986	G	T	18	45929020	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.20189261954487E-4	0.044
18	43508987	G	A	18	45929021	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.18101770628721E-5	0.0
18	43508987	G	C	18	45929021	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.09824110626492E-5	0.022
18	43508987	G	T	18	45929021	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.01557007620711E-4	0.112
18	43510634	A	C	18	45930668	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.39291939891686E-4	0.004
18	43510634	A	G	18	45930668	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.12955480299761E-4	0.006
18	43510634	A	T	18	45930668	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.09642568648338E-4	0.008
18	43510635	T	A	18	45930669	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.7016911438608E-4	0.09
18	43510635	T	C	18	45930669	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.17510838974764E-5	0.032
18	43510635	T	G	18	45930669	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.11087403071293E-5	0.022
18	43510636	T	A	18	45930670	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.56871398551237E-4	0.038
18	43510636	T	C	18	45930670	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.18923191914756E-4	0.004
18	43510636	T	G	18	45930670	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00502641112952554	0.106
18	43510637	C	A	18	45930671	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999962094038288	0.988
18	43510637	C	G	18	45930671	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999968294705293	0.976
18	43510637	C	T	18	45930671	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999979021550989	0.988
18	43510638	T	A	18	45930672	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995771323001398	0.94
18	43510638	T	C	18	45930672	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994787994000655	0.9
18	43510638	T	G	18	45930672	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995694724495138	0.918
18	43510639	A	C	18	45930673	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.0296643247982E-4	0.066
18	43510639	A	G	18	45930673	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.39374116880813E-4	0.108
18	43510639	A	T	18	45930673	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.72060377104409E-4	0.062
18	43510640	A	C	18	45930674	y	y	splicing	EPG5(NM_020964:exon13:c.2412+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2412+2T>G)	.	.	0.999988247793601	0.93
18	43510640	A	G	18	45930674	y	y	splicing	EPG5(NM_020964:exon13:c.2412+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2412+2T>C)	.	.	0.99991522016916	0.908
18	43510640	A	T	18	45930674	y	y	splicing	EPG5(NM_020964:exon13:c.2412+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2412+2T>A)	.	.	0.999988247793601	0.93
18	43510641	C	A	18	45930675	y	y	splicing	EPG5(NM_020964:exon13:c.2412+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2412+1G>T)	.	.	0.999987124402133	0.938
18	43510641	C	G	18	45930675	y	y	splicing	EPG5(NM_020964:exon13:c.2412+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2412+1G>C)	.	.	0.999987124402133	0.938
18	43510641	C	T	18	45930675	y	y	splicing	EPG5(NM_020964:exon13:c.2412+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2412+1G>A)	.	.	0.999987124402133	0.938
18	43510642	C	A	18	45930676	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.G2412T:p.E804D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.G2412T:p.E804D;	0.999992128756705	0.94
18	43510642	C	G	18	45930676	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.G2412C:p.E804D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.G2412C:p.E804D;	0.999996536535935	0.992
18	43510642	C	T	18	45930676	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon12:c.G2412A:p.E804E;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.G2412A:p.E804E;	0.999981819574595	0.994
18	43510643	T	A	18	45930677	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.A2411T:p.E804V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.A2411T:p.E804V;	0.999981509381776	0.992
18	43510643	T	C	18	45930677	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.A2411G:p.E804G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.A2411G:p.E804G;	0.999981509381776	0.994
18	43510643	T	G	18	45930677	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.A2411C:p.E804A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.A2411C:p.E804A;	0.999967689691267	0.988
18	43510644	C	A	18	45930678	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon12:c.G2410T:p.E804X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon12:c.G2410T:p.E804X;	0.993699168591779	0.824
18	43510644	C	G	18	45930678	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.G2410C:p.E804Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.G2410C:p.E804Q;	0.00813988258971187	0.136
18	43510644	C	T	18	45930678	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.G2410A:p.E804K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.G2410A:p.E804K;	0.967292287569085	0.758
18	43510795	G	A	18	45930829	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon12:c.C2259T:p.D753D;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.C2259T:p.D753D;	1.37389950540685E-5	0.002
18	43510795	G	C	18	45930829	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.C2259G:p.D753E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.C2259G:p.D753E;	1.12832979939599E-5	0.006
18	43510795	G	T	18	45930829	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.C2259A:p.D753E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.C2259A:p.D753E;	9.40238002175197E-5	0.016
18	43510796	T	A	18	45930830	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.A2258T:p.D753V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.A2258T:p.D753V;	4.23436157358576E-4	0.068
18	43510796	T	C	18	45930830	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.A2258G:p.D753G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.A2258G:p.D753G;	1.59513843545577E-5	0.004
18	43510796	T	G	18	45930830	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon12:c.A2258C:p.D753A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon12:c.A2258C:p.D753A;	1.63410363742569E-4	0.07
18	43510797	C	A	18	45930831	y	y	splicing	EPG5(NM_020964:exon13:c.2258-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2258-1G>T)	.	.	0.99992325301587	0.892
18	43510797	C	G	18	45930831	y	y	splicing	EPG5(NM_020964:exon13:c.2258-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2258-1G>C)	.	.	0.999925494125701	0.868
18	43510797	C	T	18	45930831	y	y	splicing	EPG5(NM_020964:exon13:c.2258-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2258-1G>A)	.	.	0.99992325301587	0.89
18	43510798	T	A	18	45930832	y	y	splicing	EPG5(NM_020964:exon13:c.2258-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2258-2A>T)	.	.	0.998688702521031	0.726
18	43510798	T	C	18	45930832	y	y	splicing	EPG5(NM_020964:exon13:c.2258-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2258-2A>G)	.	.	0.998963636898735	0.738
18	43510798	T	G	18	45930832	y	y	splicing	EPG5(NM_020964:exon13:c.2258-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon13:c.2258-2A>C)	.	.	0.998963636898735	0.734
18	43510799	G	A	18	45930833	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0113848636600645	0.332
18	43510799	G	C	18	45930833	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997285523982649	0.806
18	43510799	G	T	18	45930833	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.950240380367526	0.796
18	43510800	C	A	18	45930834	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.38857319049596E-4	0.056
18	43510800	C	G	18	45930834	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.76046439620131E-5	0.048
18	43510800	C	T	18	45930834	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.67278209938007E-4	0.072
18	43510801	A	C	18	45930835	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.636336603140818	0.624
18	43510801	A	G	18	45930835	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00302036725830533	0.082
18	43510801	A	T	18	45930835	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998736532630198	0.938
18	43510802	A	C	18	45930836	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0337100453809297	0.38
18	43510802	A	G	18	45930836	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.44242807541545E-5	0.008
18	43510802	A	T	18	45930836	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0289245511673143	0.382
18	43510803	G	A	18	45930837	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.59263380380195E-5	0.0
18	43510803	G	C	18	45930837	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.9289281925401	0.822
18	43510803	G	T	18	45930837	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.63351955129665E-4	0.092
18	43510804	T	A	18	45930838	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.89066270227934E-5	0.03
18	43510804	T	C	18	45930838	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998416329222815	0.96
18	43510804	T	G	18	45930838	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.89066270227934E-5	0.008
18	43510805	T	A	18	45930839	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.57225310695041E-5	0.01
18	43510805	T	C	18	45930839	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.93442435266309E-5	0.0
18	43510805	T	G	18	45930839	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.25241356337958E-5	0.0
18	43510806	C	A	18	45930840	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.57803879338588E-6	0.002
18	43510806	C	G	18	45930840	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.43003693059924E-6	0.0
18	43510806	C	T	18	45930840	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.66206205847015E-4	0.012
18	43510807	A	C	18	45930841	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995780213556198	0.956
18	43510807	A	G	18	45930841	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0011144260030063	0.072
18	43510807	A	T	18	45930841	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995681536034073	0.95
18	43510808	T	A	18	45930842	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.00131894528275E-5	0.016
18	43510808	T	C	18	45930842	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.16947919823805E-6	0.038
18	43510808	T	G	18	45930842	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.84042634963156E-6	0.006
18	43514767	G	A	18	45934801	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.54180723224903E-5	0.002
18	43514767	G	C	18	45934801	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.41239233412688E-5	0.002
18	43514767	G	T	18	45934801	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.45631894472034E-4	0.002
18	43514768	G	A	18	45934802	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.6514631485974E-4	0.002
18	43514768	G	C	18	45934802	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.73547915266621E-4	0.0
18	43514768	G	T	18	45934802	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.6514631485974E-4	0.0
18	43514769	C	A	18	45934803	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.78128486335162E-5	0.018
18	43514769	C	G	18	45934803	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.84515288367167E-4	0.01
18	43514769	C	T	18	45934803	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.18517406818138E-4	0.01
18	43514770	T	A	18	45934804	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.68238949898458E-4	0.006
18	43514770	T	C	18	45934804	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.26931147093376E-5	0.008
18	43514770	T	G	18	45934804	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.00370948636285E-5	0.01
18	43514771	G	A	18	45934805	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.88950876539148E-4	0.122
18	43514771	G	C	18	45934805	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.85443060153873E-4	0.078
18	43514771	G	T	18	45934805	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.03033755528074E-4	0.122
18	43514772	T	A	18	45934806	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999628581705669	0.976
18	43514772	T	C	18	45934806	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.992131703978751	0.812
18	43514772	T	G	18	45934806	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999879206792191	0.954
18	43514773	A	C	18	45934807	y	y	splicing	EPG5(NM_020964:exon12:c.2257+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2257+2T>G)	.	.	0.999988247793601	0.93
18	43514773	A	G	18	45934807	y	y	splicing	EPG5(NM_020964:exon12:c.2257+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2257+2T>C)	.	.	0.992577803696025	0.694
18	43514773	A	T	18	45934807	y	y	splicing	EPG5(NM_020964:exon12:c.2257+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2257+2T>A)	.	.	0.999988247793601	0.93
18	43514774	C	A	18	45934808	y	y	splicing	EPG5(NM_020964:exon12:c.2257+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2257+1G>T)	.	.	0.999990361384395	0.938
18	43514774	C	G	18	45934808	y	y	splicing	EPG5(NM_020964:exon12:c.2257+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2257+1G>C)	.	.	0.999990361384395	0.938
18	43514774	C	T	18	45934808	y	y	splicing	EPG5(NM_020964:exon12:c.2257+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2257+1G>A)	.	.	0.999990361384395	0.938
18	43514775	C	A	18	45934809	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.G2257T:p.D753Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.G2257T:p.D753Y;	0.999994342005323	0.998
18	43514775	C	G	18	45934809	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.G2257C:p.D753H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.G2257C:p.D753H;	0.999997360428448	1.0
18	43514775	C	T	18	45934809	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.G2257A:p.D753N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.G2257A:p.D753N;	0.999992042933719	1.0
18	43514776	T	A	18	45934810	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.A2256T:p.Q752H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2256T:p.Q752H;	0.999938151101861	0.99
18	43514776	T	C	18	45934810	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon11:c.A2256G:p.Q752Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2256G:p.Q752Q;	0.998786837284144	0.972
18	43514776	T	G	18	45934810	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.A2256C:p.Q752H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2256C:p.Q752H;	0.999853447774863	0.996
18	43514777	T	A	18	45934811	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.A2255T:p.Q752L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2255T:p.Q752L;	0.995016351648219	0.77
18	43514777	T	C	18	45934811	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.A2255G:p.Q752R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2255G:p.Q752R;	0.0265000196853884	0.176
18	43514777	T	G	18	45934811	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.A2255C:p.Q752P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2255C:p.Q752P;	0.871572246999191	0.698
18	43514931	G	A	18	45934965	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.C2101T:p.L701F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.C2101T:p.L701F;	0.983735374738648	0.76
18	43514931	G	C	18	45934965	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.C2101G:p.L701V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.C2101G:p.L701V;	0.980732504861709	0.824
18	43514931	G	T	18	45934965	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.C2101A:p.L701I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.C2101A:p.L701I;	0.986212247938145	0.674
18	43514932	T	A	18	45934966	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.A2100T:p.R700S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2100T:p.R700S;	0.965005999847988	0.56
18	43514932	T	C	18	45934966	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon11:c.A2100G:p.R700R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2100G:p.R700R;	0.00240769321365566	0.052
18	43514932	T	G	18	45934966	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon11:c.A2100C:p.R700S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon11:c.A2100C:p.R700S;	0.971417090336672	0.586
18	43514933	C	A	18	45934967	y	y	splicing	EPG5(NM_020964:exon12:c.2100-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2100-1G>T)	.	.	0.999989125585301	0.944
18	43514933	C	G	18	45934967	y	y	splicing	EPG5(NM_020964:exon12:c.2100-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2100-1G>C)	.	.	0.999989125585301	0.944
18	43514933	C	T	18	45934967	y	y	splicing	EPG5(NM_020964:exon12:c.2100-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2100-1G>A)	.	.	0.999989125585301	0.944
18	43514934	T	A	18	45934968	y	y	splicing	EPG5(NM_020964:exon12:c.2100-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2100-2A>T)	.	.	0.999986741007567	0.946
18	43514934	T	C	18	45934968	y	y	splicing	EPG5(NM_020964:exon12:c.2100-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2100-2A>G)	.	.	0.999986741007567	0.946
18	43514934	T	G	18	45934968	y	y	splicing	EPG5(NM_020964:exon12:c.2100-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon12:c.2100-2A>C)	.	.	0.999986741007567	0.946
18	43514935	G	A	18	45934969	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00127439665476946	0.11
18	43514935	G	C	18	45934969	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998898641229924	0.692
18	43514935	G	T	18	45934969	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998188762296192	0.836
18	43514936	C	A	18	45934970	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.16033508274873E-5	0.002
18	43514936	C	G	18	45934970	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.55114501752748E-5	0.034
18	43514936	C	T	18	45934970	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.72670443799686E-5	0.086
18	43514937	A	C	18	45934971	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.992856184844948	0.786
18	43514937	A	G	18	45934971	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.61070181208139E-5	0.032
18	43514937	A	T	18	45934971	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.978510129523198	0.75
18	43514938	T	A	18	45934972	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.63756184029401E-5	0.002
18	43514938	T	C	18	45934972	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.5901072663298E-5	0.002
18	43514938	T	G	18	45934972	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.63756184029401E-5	0.0
18	43514939	G	A	18	45934973	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.52389936583305E-5	0.012
18	43514939	G	C	18	45934973	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99978881312268	0.982
18	43514939	G	T	18	45934973	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.95915087554912E-4	0.076
18	43514940	T	A	18	45934974	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.08757601138382E-4	0.018
18	43514940	T	C	18	45934974	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.11059425502747E-4	0.022
18	43514940	T	G	18	45934974	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.22004429079906E-4	0.01
18	43514941	A	C	18	45934975	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0323044597778333	0.18
18	43514941	A	G	18	45934975	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.42257651868579E-4	0.028
18	43514941	A	T	18	45934975	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0254142659226546	0.176
18	43514942	A	C	18	45934976	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0246680394721509	0.396
18	43514942	A	G	18	45934976	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.12582612051548E-4	0.078
18	43514942	A	T	18	45934976	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.139922439658483	0.414
18	43514943	G	A	18	45934977	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.64552458982511E-5	0.0
18	43514943	G	C	18	45934977	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.04500598947638E-4	0.064
18	43514943	G	T	18	45934977	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.88492210425667E-4	0.056
18	43514944	C	A	18	45934978	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.60095691103756E-5	0.004
18	43514944	C	G	18	45934978	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.54227767959456E-5	0.0
18	43514944	C	T	18	45934978	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.30500298442006E-4	0.01
18	43519558	T	A	18	45939592	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.60468768495008E-4	0.006
18	43519558	T	C	18	45939592	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.41779379968969E-4	0.0
18	43519558	T	G	18	45939592	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.41779379968969E-4	0.004
18	43519559	T	A	18	45939593	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.66016274657729E-5	0.002
18	43519559	T	C	18	45939593	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.00203998906451E-5	0.0
18	43519559	T	G	18	45939593	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.00203998906451E-5	0.002
18	43519560	A	C	18	45939594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.94342320006905E-4	0.052
18	43519560	A	G	18	45939594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00189020867277486	0.064
18	43519560	A	T	18	45939594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.01182547450963E-4	0.09
18	43519561	C	A	18	45939595	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.537918737345853	0.56
18	43519561	C	G	18	45939595	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.569824741195807	0.546
18	43519561	C	T	18	45939595	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.404584547011003	0.506
18	43519562	T	A	18	45939596	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.272315258952571	0.252
18	43519562	T	C	18	45939596	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.234603526870093	0.292
18	43519562	T	G	18	45939596	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.436192498956642	0.3
18	43519563	T	A	18	45939597	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.285341786467605	0.444
18	43519563	T	C	18	45939597	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.16773015882666E-4	0.03
18	43519563	T	G	18	45939597	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.342525045903038	0.46
18	43519564	A	C	18	45939598	y	y	splicing	EPG5(NM_020964:exon11:c.2099+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.2099+2T>G)	.	.	0.999993519952936	0.93
18	43519564	A	G	18	45939598	y	y	splicing	EPG5(NM_020964:exon11:c.2099+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.2099+2T>C)	.	.	0.992991500790992	0.608
18	43519564	A	T	18	45939598	y	y	splicing	EPG5(NM_020964:exon11:c.2099+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.2099+2T>A)	.	.	0.999993519952936	0.93
18	43519565	C	A	18	45939599	y	y	splicing	EPG5(NM_020964:exon11:c.2099+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.2099+1G>T)	.	.	0.999988247793601	0.928
18	43519565	C	G	18	45939599	y	y	splicing	EPG5(NM_020964:exon11:c.2099+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.2099+1G>C)	.	.	0.999988247793601	0.928
18	43519565	C	T	18	45939599	y	y	splicing	EPG5(NM_020964:exon11:c.2099+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.2099+1G>A)	.	.	0.999988247793601	0.928
18	43519566	C	A	18	45939600	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.G2099T:p.R700I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.G2099T:p.R700I;	0.999602176242579	0.938
18	43519566	C	G	18	45939600	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.G2099C:p.R700T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.G2099C:p.R700T;	0.999484206552118	0.946
18	43519566	C	T	18	45939600	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.G2099A:p.R700K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.G2099A:p.R700K;	0.999667530787048	0.902
18	43519567	T	A	18	45939601	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon10:c.A2098T:p.R700X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon10:c.A2098T:p.R700X;	0.835995815462069	0.506
18	43519567	T	C	18	45939601	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.A2098G:p.R700G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.A2098G:p.R700G;	0.878982547472966	0.514
18	43519567	T	G	18	45939601	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon10:c.A2098C:p.R700R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.A2098C:p.R700R;	0.374051713404709	0.51
18	43519568	T	A	18	45939602	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.A2097T:p.K699N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.A2097T:p.K699N;	0.146236690136966	0.21
18	43519568	T	C	18	45939602	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon10:c.A2097G:p.K699K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.A2097G:p.K699K;	9.24536487192536E-4	0.012
18	43519568	T	G	18	45939602	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.A2097C:p.K699N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.A2097C:p.K699N;	0.0868202489657023	0.216
18	43519720	T	A	18	45939754	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.A1945T:p.M649L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.A1945T:p.M649L;	0.0324080074386195	0.382
18	43519720	T	C	18	45939754	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.A1945G:p.M649V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.A1945G:p.M649V;	0.0218985533818855	0.074
18	43519720	T	G	18	45939754	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.A1945C:p.M649L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.A1945C:p.M649L;	0.138130890727905	0.396
18	43519721	C	A	18	45939755	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.G1944T:p.R648S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.G1944T:p.R648S;	0.695697279217332	0.606
18	43519721	C	G	18	45939755	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon10:c.G1944C:p.R648S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.G1944C:p.R648S;	0.147533377594939	0.558
18	43519721	C	T	18	45939755	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon10:c.G1944A:p.R648R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon10:c.G1944A:p.R648R;	0.00222711158864501	0.08
18	43519722	C	A	18	45939756	y	y	splicing	EPG5(NM_020964:exon11:c.1944-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.1944-1G>T)	.	.	0.999962244560165	0.908
18	43519722	C	G	18	45939756	y	y	splicing	EPG5(NM_020964:exon11:c.1944-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.1944-1G>C)	.	.	0.999977459371092	0.91
18	43519722	C	T	18	45939756	y	y	splicing	EPG5(NM_020964:exon11:c.1944-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.1944-1G>A)	.	.	0.999971451041086	0.932
18	43519723	T	A	18	45939757	y	y	splicing	EPG5(NM_020964:exon11:c.1944-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.1944-2A>T)	.	.	0.999987642276839	0.904
18	43519723	T	C	18	45939757	y	y	splicing	EPG5(NM_020964:exon11:c.1944-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.1944-2A>G)	.	.	0.999992622308146	0.91
18	43519723	T	G	18	45939757	y	y	splicing	EPG5(NM_020964:exon11:c.1944-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon11:c.1944-2A>C)	.	.	0.999992622308146	0.91
18	43519724	G	A	18	45939758	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00592277936894882	0.382
18	43519724	G	C	18	45939758	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997823691265728	0.834
18	43519724	G	T	18	45939758	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.416512410251703	0.568
18	43519725	A	C	18	45939759	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.81468181790691E-5	0.0
18	43519725	A	G	18	45939759	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.98834330467636E-4	0.162
18	43519725	A	T	18	45939759	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.81192299795132E-5	0.0
18	43519726	G	A	18	45939760	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.68927943745743E-4	0.002
18	43519726	G	C	18	45939760	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00226548133204195	0.096
18	43519726	G	T	18	45939760	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00297060906240368	0.058
18	43519727	C	A	18	45939761	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.0849720103134E-5	0.016
18	43519727	C	G	18	45939761	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.90269189296739E-5	0.016
18	43519727	C	T	18	45939761	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.93098771490362E-5	0.002
18	43519728	A	C	18	45939762	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999895077248996	0.992
18	43519728	A	G	18	45939762	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.9668260421395E-4	0.02
18	43519728	A	T	18	45939762	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999259059864471	0.976
18	43519729	T	A	18	45939763	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.66678481513187E-6	0.006
18	43519729	T	C	18	45939763	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.62424552132609E-5	0.01
18	43519729	T	G	18	45939763	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.21228598702575E-5	0.012
18	43519730	G	A	18	45939764	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.92253333804733E-5	0.0
18	43519730	G	C	18	45939764	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00192387427787967	0.028
18	43519730	G	T	18	45939764	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.86385611227994E-4	0.014
18	43519731	A	C	18	45939765	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.255264371510316	0.462
18	43519731	A	G	18	45939765	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00139303454997871	0.046
18	43519731	A	T	18	45939765	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.284107855499456	0.498
18	43519732	G	A	18	45939766	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.95517644292148E-5	0.01
18	43519732	G	C	18	45939766	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00171379882601911	0.07
18	43519732	G	T	18	45939766	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00101921845201211	0.048
18	43519733	G	A	18	45939767	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.47072312172491E-5	0.002
18	43519733	G	C	18	45939767	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00127508033146306	0.084
18	43519733	G	T	18	45939767	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0161889288442249	0.066
18	43523119	A	C	18	45943153	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.81159136363845E-5	0.0
18	43523119	A	G	18	45943153	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.82827935381688E-5	0.0
18	43523119	A	T	18	45943153	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.14468490257208E-5	0.0
18	43523120	G	A	18	45943154	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.53733271257914E-4	0.002
18	43523120	G	C	18	45943154	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.31751730998634E-5	0.002
18	43523120	G	T	18	45943154	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.21666914623084E-5	0.0
18	43523121	T	A	18	45943155	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.15920061809814E-5	0.014
18	43523121	T	C	18	45943155	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.56951402371447E-5	0.004
18	43523121	T	G	18	45943155	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.09229681995106E-4	0.04
18	43523122	A	C	18	45943156	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.99101902053302E-4	0.13
18	43523122	A	G	18	45943156	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.53712793785798E-5	0.004
18	43523122	A	T	18	45943156	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.85532141927737E-5	0.008
18	43523123	T	A	18	45943157	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.70553504350018	0.372
18	43523123	T	C	18	45943157	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.899600975373465	0.534
18	43523123	T	G	18	45943157	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.665521964690158	0.428
18	43523124	T	A	18	45943158	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999933482358088	0.956
18	43523124	T	C	18	45943158	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.988178590723628	0.748
18	43523124	T	G	18	45943158	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999838773562143	0.966
18	43523125	A	C	18	45943159	y	y	splicing	EPG5(NM_020964:exon10:c.1943+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1943+2T>G)	.	.	0.999992446697775	0.926
18	43523125	A	G	18	45943159	y	y	splicing	EPG5(NM_020964:exon10:c.1943+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1943+2T>C)	.	.	0.989838600809155	0.61
18	43523125	A	T	18	45943159	y	y	splicing	EPG5(NM_020964:exon10:c.1943+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1943+2T>A)	.	.	0.999992446697775	0.914
18	43523126	C	A	18	45943160	y	y	splicing	EPG5(NM_020964:exon10:c.1943+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1943+1G>T)	.	.	0.999988247793601	0.922
18	43523126	C	G	18	45943160	y	y	splicing	EPG5(NM_020964:exon10:c.1943+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1943+1G>C)	.	.	0.999988247793601	0.922
18	43523126	C	T	18	45943160	y	y	splicing	EPG5(NM_020964:exon10:c.1943+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1943+1G>A)	.	.	0.999988247793601	0.922
18	43523127	C	A	18	45943161	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.G1943T:p.R648M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.G1943T:p.R648M;	0.999991926426842	0.998
18	43523127	C	G	18	45943161	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.G1943C:p.R648T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.G1943C:p.R648T;	0.999998132351199	0.994
18	43523127	C	T	18	45943161	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.G1943A:p.R648K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.G1943A:p.R648K;	0.99999542008046	0.996
18	43523128	T	A	18	45943162	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.A1942T:p.R648W;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.A1942T:p.R648W;	0.999883556215615	0.998
18	43523128	T	C	18	45943162	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.A1942G:p.R648G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.A1942G:p.R648G;	0.999846473542019	0.98
18	43523128	T	G	18	45943162	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon9:c.A1942C:p.R648R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.A1942C:p.R648R;	0.996983291435906	0.946
18	43523129	G	A	18	45943163	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon9:c.C1941T:p.I647I;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.C1941T:p.I647I;	0.742243641303238	0.698
18	43523129	G	C	18	45943163	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.C1941G:p.I647M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.C1941G:p.I647M;	0.767568021322065	0.49
18	43523129	G	T	18	45943163	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon9:c.C1941A:p.I647I;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.C1941A:p.I647I;	0.0131201706233171	0.114
18	43523276	A	C	18	45943310	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon9:c.T1794G:p.G598G;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.T1794G:p.G598G;	0.00376113978925088	0.224
18	43523276	A	G	18	45943310	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon9:c.T1794C:p.G598G;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.T1794C:p.G598G;	0.00406797922890694	0.248
18	43523276	A	T	18	45943310	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon9:c.T1794A:p.G598G;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.T1794A:p.G598G;	0.00141009703927984	0.25
18	43523277	C	A	18	45943311	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.G1793T:p.G598V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.G1793T:p.G598V;	0.999380301946412	0.946
18	43523277	C	G	18	45943311	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.G1793C:p.G598A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.G1793C:p.G598A;	0.973692723041453	0.804
18	43523277	C	T	18	45943311	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon9:c.G1793A:p.G598D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon9:c.G1793A:p.G598D;	0.111739013233002	0.378
18	43523278	C	A	18	45943312	y	y	splicing	EPG5(NM_020964:exon10:c.1793-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1793-1G>T)	.	.	0.999988247793601	0.934
18	43523278	C	G	18	45943312	y	y	splicing	EPG5(NM_020964:exon10:c.1793-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1793-1G>C)	.	.	0.999988247793601	0.934
18	43523278	C	T	18	45943312	y	y	splicing	EPG5(NM_020964:exon10:c.1793-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1793-1G>A)	.	.	0.999988247793601	0.936
18	43523279	T	A	18	45943313	y	y	splicing	EPG5(NM_020964:exon10:c.1793-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1793-2A>T)	.	.	0.999993519952936	0.926
18	43523279	T	C	18	45943313	y	y	splicing	EPG5(NM_020964:exon10:c.1793-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1793-2A>G)	.	.	0.999993519952936	0.926
18	43523279	T	G	18	45943313	y	y	splicing	EPG5(NM_020964:exon10:c.1793-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon10:c.1793-2A>C)	.	.	0.999993519952936	0.926
18	43523280	A	C	18	45943314	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.305570068495385	0.624
18	43523280	A	G	18	45943314	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.70165851601378E-5	0.01
18	43523280	A	T	18	45943314	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0131158302897349	0.262
18	43523281	G	A	18	45943315	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.77095778527381E-4	0.012
18	43523281	G	C	18	45943315	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00126590842262087	0.02
18	43523281	G	T	18	45943315	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.9815372544044E-4	0.014
18	43523282	A	C	18	45943316	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.992707859064581	0.756
18	43523282	A	G	18	45943316	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.106193870314881	0.238
18	43523282	A	T	18	45943316	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.982326082869428	0.776
18	43523283	A	C	18	45943317	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.812208045443904	0.658
18	43523283	A	G	18	45943317	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.51693341690484E-4	0.08
18	43523283	A	T	18	45943317	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.191937306457239	0.628
18	43523284	G	A	18	45943318	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.18752668754294E-5	0.0
18	43523284	G	C	18	45943318	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.989077360050639	0.886
18	43523284	G	T	18	45943318	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00192989783903811	0.046
18	43523285	T	A	18	45943319	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00248908345621125	0.022
18	43523285	T	C	18	45943319	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997870530455304	0.902
18	43523285	T	G	18	45943319	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00169696324910744	0.018
18	43523286	T	A	18	45943320	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.69861631248589E-5	0.028
18	43523286	T	C	18	45943320	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.2128560059443E-4	0.008
18	43523286	T	G	18	45943320	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.18129986854824E-4	0.008
18	43523287	A	C	18	45943321	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.405784951441565	0.676
18	43523287	A	G	18	45943321	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0048420371473313	0.116
18	43523287	A	T	18	45943321	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.911709091880107	0.684
18	43523288	A	C	18	45943322	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998331248144717	0.92
18	43523288	A	G	18	45943322	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00192135866347437	0.128
18	43523288	A	T	18	45943322	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.114966827997315	0.46
18	43523289	T	A	18	45943323	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.81216475309008E-5	0.002
18	43523289	T	C	18	45943323	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.32871113276771E-5	0.022
18	43523289	T	G	18	45943323	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.65047354028333E-5	0.0
18	43523963	G	A	18	45943997	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.76833476696924E-4	0.012
18	43523963	G	C	18	45943997	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.81104709051921E-5	0.0
18	43523963	G	T	18	45943997	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.43907114342426E-4	0.004
18	43523964	A	C	18	45943998	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.84721881165181E-5	0.004
18	43523964	A	G	18	45943998	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.73196147837547E-5	0.012
18	43523964	A	T	18	45943998	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.30551964575005E-5	0.004
18	43523965	G	A	18	45943999	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.89083215600469E-5	0.02
18	43523965	G	C	18	45943999	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.98249664854135E-4	0.056
18	43523965	G	T	18	45943999	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.08986011579105E-4	0.0
18	43523966	T	A	18	45944000	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.03387202257787E-4	0.016
18	43523966	T	C	18	45944000	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00105997273995878	0.204
18	43523966	T	G	18	45944000	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.32918413712166E-4	0.014
18	43523967	C	A	18	45944001	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.66502164898689E-5	0.006
18	43523967	C	G	18	45944001	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.54650433949536E-5	0.058
18	43523967	C	T	18	45944001	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.62014955264471E-5	0.136
18	43523968	T	A	18	45944002	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999902547670417	0.844
18	43523968	T	C	18	45944002	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.98811799794164	0.744
18	43523968	T	G	18	45944002	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999918085549818	0.862
18	43523969	A	C	18	45944003	y	y	splicing	EPG5(NM_020964:exon9:c.1792+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1792+2T>G)	.	.	0.999990611969007	0.908
18	43523969	A	G	18	45944003	y	y	splicing	EPG5(NM_020964:exon9:c.1792+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1792+2T>C)	.	.	0.984245752648768	0.538
18	43523969	A	T	18	45944003	y	y	splicing	EPG5(NM_020964:exon9:c.1792+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1792+2T>A)	.	.	0.999988109495442	0.93
18	43523970	C	A	18	45944004	y	y	splicing	EPG5(NM_020964:exon9:c.1792+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1792+1G>T)	.	.	0.99994568797423	0.96
18	43523970	C	G	18	45944004	y	y	splicing	EPG5(NM_020964:exon9:c.1792+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1792+1G>C)	.	.	0.999946188727699	0.962
18	43523970	C	T	18	45944004	y	y	splicing	EPG5(NM_020964:exon9:c.1792+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1792+1G>A)	.	.	0.99994568797423	0.96
18	43523971	C	A	18	45944005	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.G1792T:p.G598C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.G1792T:p.G598C;	0.999988281724955	0.992
18	43523971	C	G	18	45944005	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.G1792C:p.G598R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.G1792C:p.G598R;	0.99999625264963	0.988
18	43523971	C	T	18	45944005	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.G1792A:p.G598S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.G1792A:p.G598S;	0.999992849136137	0.99
18	43523972	T	A	18	45944006	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.A1791T:p.K597N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1791T:p.K597N;	0.999539271632793	0.96
18	43523972	T	C	18	45944006	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon8:c.A1791G:p.K597K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1791G:p.K597K;	0.999662808932589	0.948
18	43523972	T	G	18	45944006	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.A1791C:p.K597N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1791C:p.K597N;	0.997373320194965	0.914
18	43523973	T	A	18	45944007	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.A1790T:p.K597I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1790T:p.K597I;	0.726028078632457	0.58
18	43523973	T	C	18	45944007	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.A1790G:p.K597R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1790G:p.K597R;	0.00308539318034818	0.078
18	43523973	T	G	18	45944007	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.A1790C:p.K597T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1790C:p.K597T;	0.00334139202921485	0.024
18	43524084	T	A	18	45944118	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.A1679T:p.D560V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1679T:p.D560V;	0.577573984378437	0.718
18	43524084	T	C	18	45944118	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.A1679G:p.D560G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1679G:p.D560G;	0.668202119029532	0.47
18	43524084	T	G	18	45944118	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.A1679C:p.D560A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.A1679C:p.D560A;	0.654533713225608	0.71
18	43524085	C	A	18	45944119	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.G1678T:p.D560Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.G1678T:p.D560Y;	0.997858003444179	0.718
18	43524085	C	G	18	45944119	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.G1678C:p.D560H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.G1678C:p.D560H;	0.997065038363194	0.814
18	43524085	C	T	18	45944119	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon8:c.G1678A:p.D560N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon8:c.G1678A:p.D560N;	0.988940133429526	0.704
18	43524086	C	A	18	45944120	y	y	splicing	EPG5(NM_020964:exon9:c.1678-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1678-1G>T)	.	.	0.999804640506577	0.86
18	43524086	C	G	18	45944120	y	y	splicing	EPG5(NM_020964:exon9:c.1678-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1678-1G>C)	.	.	0.999804640506577	0.854
18	43524086	C	T	18	45944120	y	y	splicing	EPG5(NM_020964:exon9:c.1678-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1678-1G>A)	.	.	0.999804640506577	0.858
18	43524087	T	A	18	45944121	y	y	splicing	EPG5(NM_020964:exon9:c.1678-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1678-2A>T)	.	.	0.999991582404039	0.926
18	43524087	T	C	18	45944121	y	y	splicing	EPG5(NM_020964:exon9:c.1678-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1678-2A>G)	.	.	0.999978278263889	0.928
18	43524087	T	G	18	45944121	y	y	splicing	EPG5(NM_020964:exon9:c.1678-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon9:c.1678-2A>C)	.	.	0.999978278263889	0.926
18	43524088	A	C	18	45944122	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.965469844971349	0.644
18	43524088	A	G	18	45944122	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00205163492861672	0.038
18	43524088	A	T	18	45944122	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0119000671122874	0.24
18	43524089	A	C	18	45944123	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.48367148474546E-5	0.0
18	43524089	A	G	18	45944123	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.45486398082939E-5	0.0
18	43524089	A	T	18	45944123	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.63360899965148E-5	0.0
18	43524090	G	A	18	45944124	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.76017077174585E-5	0.0
18	43524090	G	C	18	45944124	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.90666302224017E-4	0.084
18	43524090	G	T	18	45944124	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.92227618195822E-5	0.016
18	43524091	G	A	18	45944125	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.05195139599348E-5	0.006
18	43524091	G	C	18	45944125	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.48087889629601E-4	0.124
18	43524091	G	T	18	45944125	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.29415641646468E-4	0.106
18	43524092	G	A	18	45944126	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.23910613130181E-5	0.004
18	43524092	G	C	18	45944126	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.25185293481194E-5	0.03
18	43524092	G	T	18	45944126	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.42357908530911E-4	0.04
18	43524093	A	C	18	45944127	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.61845273433677E-5	0.03
18	43524093	A	G	18	45944127	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.14102521442466E-5	0.0
18	43524093	A	T	18	45944127	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.20837021175022E-4	0.036
18	43524094	A	C	18	45944128	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00343737522804965	0.086
18	43524094	A	G	18	45944128	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00246603831693	0.018
18	43524094	A	T	18	45944128	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00254882098396878	0.074
18	43524095	A	C	18	45944129	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.430002871746211	0.4
18	43524095	A	G	18	45944129	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.202256426329931	0.308
18	43524095	A	T	18	45944129	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.125570760946024	0.472
18	43524096	A	C	18	45944130	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.057599389751094	0.366
18	43524096	A	G	18	45944130	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.038793336177633	0.158
18	43524096	A	T	18	45944130	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0761942137984854	0.428
18	43524097	G	A	18	45944131	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.76017077174585E-5	0.004
18	43524097	G	C	18	45944131	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.85628769485984E-5	0.016
18	43524097	G	T	18	45944131	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.16493015822436E-5	0.026
18	43526621	C	A	18	45946655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.70584565636706E-4	0.004
18	43526621	C	G	18	45946655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.70584565636706E-4	0.002
18	43526621	C	T	18	45946655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.13380409666108E-4	0.002
18	43526622	A	C	18	45946656	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.96313297513829E-5	0.03
18	43526622	A	G	18	45946656	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.08970157492209E-5	0.006
18	43526622	A	T	18	45946656	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.03915596711823E-5	0.014
18	43526623	A	C	18	45946657	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.6565203765197E-4	0.118
18	43526623	A	G	18	45946657	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00632467048269037	0.152
18	43526623	A	T	18	45946657	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00383881296537516	0.114
18	43526624	G	A	18	45946658	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.62807687676867E-4	0.012
18	43526624	G	C	18	45946658	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00163364232882204	0.13
18	43526624	G	T	18	45946658	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.12144530594055E-4	0.058
18	43526625	T	A	18	45946659	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.814848185316647	0.578
18	43526625	T	C	18	45946659	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.980634250767285	0.774
18	43526625	T	G	18	45946659	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.856227649778032	0.578
18	43526626	T	A	18	45946660	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999890973668279	0.952
18	43526626	T	C	18	45946660	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.616575009410393	0.762
18	43526626	T	G	18	45946660	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999870084558229	0.956
18	43526627	A	C	18	45946661	y	y	splicing	EPG5(NM_020964:exon8:c.1677+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1677+2T>G)	.	.	0.999993672935256	0.928
18	43526627	A	G	18	45946661	y	y	splicing	EPG5(NM_020964:exon8:c.1677+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1677+2T>C)	.	.	0.981624169994899	0.602
18	43526627	A	T	18	45946661	y	y	splicing	EPG5(NM_020964:exon8:c.1677+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1677+2T>A)	.	.	0.999993672935256	0.93
18	43526628	C	A	18	45946662	y	y	splicing	EPG5(NM_020964:exon8:c.1677+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1677+1G>T)	.	.	0.999992446697775	0.93
18	43526628	C	G	18	45946662	y	y	splicing	EPG5(NM_020964:exon8:c.1677+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1677+1G>C)	.	.	0.999992446697775	0.93
18	43526628	C	T	18	45946662	y	y	splicing	EPG5(NM_020964:exon8:c.1677+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1677+1G>A)	.	.	0.999992446697775	0.93
18	43526629	C	A	18	45946663	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.G1677T:p.E559D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.G1677T:p.E559D;	0.999875899445943	0.982
18	43526629	C	G	18	45946663	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.G1677C:p.E559D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.G1677C:p.E559D;	0.999983147234487	0.972
18	43526629	C	T	18	45946663	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon7:c.G1677A:p.E559E;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.G1677A:p.E559E;	0.999623219206886	0.976
18	43526630	T	A	18	45946664	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.A1676T:p.E559V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1676T:p.E559V;	0.999884999262835	0.998
18	43526630	T	C	18	45946664	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.A1676G:p.E559G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1676G:p.E559G;	0.999881161356452	0.99
18	43526630	T	G	18	45946664	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.A1676C:p.E559A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1676C:p.E559A;	0.999751039461566	0.992
18	43526631	C	A	18	45946665	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon7:c.G1675T:p.E559X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon7:c.G1675T:p.E559X;	0.847977793202025	0.596
18	43526631	C	G	18	45946665	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.G1675C:p.E559Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.G1675C:p.E559Q;	0.597298862423251	0.698
18	43526631	C	T	18	45946665	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.G1675A:p.E559K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.G1675A:p.E559K;	0.675760252201909	0.706
18	43526733	T	A	18	45946767	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.A1573T:p.N525Y;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1573T:p.N525Y;	0.491763875556582	0.64
18	43526733	T	C	18	45946767	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.A1573G:p.N525D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1573G:p.N525D;	0.444723706706228	0.396
18	43526733	T	G	18	45946767	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.A1573C:p.N525H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1573C:p.N525H;	0.0288642797018288	0.16
18	43526734	T	A	18	45946768	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.A1572T:p.K524N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1572T:p.K524N;	7.05714606023475E-4	0.21
18	43526734	T	C	18	45946768	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon7:c.A1572G:p.K524K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1572G:p.K524K;	2.89352047038223E-4	0.024
18	43526734	T	G	18	45946768	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon7:c.A1572C:p.K524N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon7:c.A1572C:p.K524N;	1.64200781975581E-4	0.156
18	43526735	C	A	18	45946769	y	y	splicing	EPG5(NM_020964:exon8:c.1572-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1572-1G>T)	.	.	0.999992446697775	0.93
18	43526735	C	G	18	45946769	y	y	splicing	EPG5(NM_020964:exon8:c.1572-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1572-1G>C)	.	.	0.999992446697775	0.93
18	43526735	C	T	18	45946769	y	y	splicing	EPG5(NM_020964:exon8:c.1572-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1572-1G>A)	.	.	0.999992446697775	0.93
18	43526736	T	A	18	45946770	y	y	splicing	EPG5(NM_020964:exon8:c.1572-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1572-2A>T)	.	.	0.999993672935256	0.93
18	43526736	T	C	18	45946770	y	y	splicing	EPG5(NM_020964:exon8:c.1572-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1572-2A>G)	.	.	0.999993672935256	0.93
18	43526736	T	G	18	45946770	y	y	splicing	EPG5(NM_020964:exon8:c.1572-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon8:c.1572-2A>C)	.	.	0.999993672935256	0.93
18	43526737	A	C	18	45946771	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996736228670809	0.716
18	43526737	A	G	18	45946771	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.49593836776037E-4	0.03
18	43526737	A	T	18	45946771	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.124796816861788	0.332
18	43526738	A	C	18	45946772	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.46900428376989E-4	0.004
18	43526738	A	G	18	45946772	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.07536503041323E-4	0.006
18	43526738	A	T	18	45946772	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00201480231553451	0.008
18	43526739	A	C	18	45946773	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.321570914885669	0.412
18	43526739	A	G	18	45946773	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0012879571003919	0.012
18	43526739	A	T	18	45946773	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0748540236859086	0.374
18	43526740	G	A	18	45946774	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.28501525896997E-5	0.002
18	43526740	G	C	18	45946774	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00890412880522768	0.118
18	43526740	G	T	18	45946774	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0112152904136823	0.108
18	43526741	G	A	18	45946775	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.96479202071302E-4	0.02
18	43526741	G	C	18	45946775	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00602789482488195	0.122
18	43526741	G	T	18	45946775	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00458748172357311	0.134
18	43526742	A	C	18	45946776	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00300291457349855	0.116
18	43526742	A	G	18	45946776	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.10894054033988E-4	0.004
18	43526742	A	T	18	45946776	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00514242787639748	0.082
18	43526743	C	A	18	45946777	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.75752122736589E-4	0.008
18	43526743	C	G	18	45946777	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.61348388874779E-4	0.006
18	43526743	C	T	18	45946777	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.61159310723062E-4	0.082
18	43526744	A	C	18	45946778	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0505583562038803	0.182
18	43526744	A	G	18	45946778	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0017908048777278	0.084
18	43526744	A	T	18	45946778	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999899473245966	0.98
18	43526745	A	C	18	45946779	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.720376622189224	0.586
18	43526745	A	G	18	45946779	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.145594376540692	0.294
18	43526745	A	T	18	45946779	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.867041897106819	0.634
18	43526746	G	A	18	45946780	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.46665218441539E-5	0.064
18	43526746	G	C	18	45946780	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.90517439329104E-4	0.076
18	43526746	G	T	18	45946780	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00153017539902971	0.13
18	43528461	A	C	18	45948495	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00619358046623184	0.03
18	43528461	A	G	18	45948495	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00579929449245677	0.042
18	43528461	A	T	18	45948495	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0056055731153325	0.032
18	43528462	C	A	18	45948496	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.31272520716674E-4	0.0
18	43528462	C	G	18	45948496	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.15245969590888E-4	0.002
18	43528462	C	T	18	45948496	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.31272520716674E-4	0.008
18	43528463	A	C	18	45948497	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.953731392351944	0.762
18	43528463	A	G	18	45948497	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.965117390284754	0.806
18	43528463	A	T	18	45948497	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.985291627716284	0.768
18	43528464	C	A	18	45948498	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996210827266427	0.89
18	43528464	C	G	18	45948498	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99603190364268	0.914
18	43528464	C	T	18	45948498	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.989661292704303	0.966
18	43528465	T	A	18	45948499	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996916135605157	0.872
18	43528465	T	C	18	45948499	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99539508449168	0.884
18	43528465	T	G	18	45948499	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995860956871551	0.89
18	43528466	T	A	18	45948500	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.993300493907137	0.864
18	43528466	T	C	18	45948500	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0108764158038525	0.198
18	43528466	T	G	18	45948500	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999685713410822	0.93
18	43528467	A	C	18	45948501	y	y	splicing	EPG5(NM_020964:exon7:c.1571+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1571+2T>G)	.	.	0.999989917668626	0.928
18	43528467	A	G	18	45948501	y	y	splicing	EPG5(NM_020964:exon7:c.1571+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1571+2T>C)	.	.	0.991781671885672	0.642
18	43528467	A	T	18	45948501	y	y	splicing	EPG5(NM_020964:exon7:c.1571+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1571+2T>A)	.	.	0.999989917668626	0.928
18	43528468	C	A	18	45948502	y	y	splicing	EPG5(NM_020964:exon7:c.1571+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1571+1G>T)	.	.	0.999986675681007	0.94
18	43528468	C	G	18	45948502	y	y	splicing	EPG5(NM_020964:exon7:c.1571+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1571+1G>C)	.	.	0.999986675681007	0.94
18	43528468	C	T	18	45948502	y	y	splicing	EPG5(NM_020964:exon7:c.1571+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1571+1G>A)	.	.	0.999986675681007	0.94
18	43528469	T	A	18	45948503	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.A1571T:p.K524I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.A1571T:p.K524I;	0.0300101694657998	0.228
18	43528469	T	C	18	45948503	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.A1571G:p.K524R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.A1571G:p.K524R;	1.37812080625478E-4	0.048
18	43528469	T	G	18	45948503	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.A1571C:p.K524T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.A1571C:p.K524T;	0.00174792993324946	0.168
18	43528470	T	A	18	45948504	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon6:c.A1570T:p.K524X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon6:c.A1570T:p.K524X;	0.987444880750125	0.804
18	43528470	T	C	18	45948504	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.A1570G:p.K524E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.A1570G:p.K524E;	0.990721715884985	0.934
18	43528470	T	G	18	45948504	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.A1570C:p.K524Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.A1570C:p.K524Q;	0.987449385793128	0.888
18	43528471	G	A	18	45948505	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon6:c.C1569T:p.V523V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.C1569T:p.V523V;	0.75956998855634	0.698
18	43528471	G	C	18	45948505	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon6:c.C1569G:p.V523V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.C1569G:p.V523V;	0.0266716931047024	0.094
18	43528471	G	T	18	45948505	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon6:c.C1569A:p.V523V;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.C1569A:p.V523V;	0.0351248059916628	0.138
18	43528541	A	C	18	45948575	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.T1499G:p.I500S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.T1499G:p.I500S;	0.112711797162673	0.452
18	43528541	A	G	18	45948575	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.T1499C:p.I500T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.T1499C:p.I500T;	0.0938730524398832	0.368
18	43528541	A	T	18	45948575	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.T1499A:p.I500N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.T1499A:p.I500N;	0.0743339038133331	0.474
18	43528542	T	A	18	45948576	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.A1498T:p.I500F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.A1498T:p.I500F;	0.234858594544841	0.512
18	43528542	T	C	18	45948576	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.A1498G:p.I500V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.A1498G:p.I500V;	0.00208869929727958	0.016
18	43528542	T	G	18	45948576	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon6:c.A1498C:p.I500L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon6:c.A1498C:p.I500L;	0.121263264800395	0.544
18	43528543	C	A	18	45948577	y	y	splicing	EPG5(NM_020964:exon7:c.1498-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1498-1G>T)	.	.	0.999986675681007	0.934
18	43528543	C	G	18	45948577	y	y	splicing	EPG5(NM_020964:exon7:c.1498-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1498-1G>C)	.	.	0.999986675681007	0.934
18	43528543	C	T	18	45948577	y	y	splicing	EPG5(NM_020964:exon7:c.1498-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1498-1G>A)	.	.	0.999986675681007	0.934
18	43528544	T	A	18	45948578	y	y	splicing	EPG5(NM_020964:exon7:c.1498-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1498-2A>T)	.	.	0.999989917668626	0.928
18	43528544	T	C	18	45948578	y	y	splicing	EPG5(NM_020964:exon7:c.1498-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1498-2A>G)	.	.	0.999989917668626	0.928
18	43528544	T	G	18	45948578	y	y	splicing	EPG5(NM_020964:exon7:c.1498-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon7:c.1498-2A>C)	.	.	0.999989917668626	0.928
18	43528545	G	A	18	45948579	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.120268476458722	0.17
18	43528545	G	C	18	45948579	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999787130810706	0.944
18	43528545	G	T	18	45948579	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.987466062139934	0.764
18	43528546	A	C	18	45948580	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00149010346784219	0.026
18	43528546	A	G	18	45948580	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.41063516173039E-4	0.026
18	43528546	A	T	18	45948580	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.3528237719393E-4	0.052
18	43528547	A	C	18	45948581	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.831739477833803	0.736
18	43528547	A	G	18	45948581	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0256971524359395	0.146
18	43528547	A	T	18	45948581	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.973810527428498	0.826
18	43528548	A	C	18	45948582	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999700616757455	0.944
18	43528548	A	G	18	45948582	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00204770441822622	0.072
18	43528548	A	T	18	45948582	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.986000712591747	0.798
18	43528549	T	A	18	45948583	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.72463630546281E-4	0.026
18	43528549	T	C	18	45948583	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.1299742744168E-4	0.002
18	43528549	T	G	18	45948583	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00102920590105548	0.004
18	43528550	C	A	18	45948584	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.42707823077913E-4	0.028
18	43528550	C	G	18	45948584	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.12506377904051E-4	0.004
18	43528550	C	T	18	45948584	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.64847759745873E-4	0.02
18	43528551	A	C	18	45948585	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.865047475833496	0.65
18	43528551	A	G	18	45948585	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0011588054168477	0.052
18	43528551	A	T	18	45948585	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999914241423564	0.952
18	43528552	G	A	18	45948586	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0161455692735616	0.22
18	43528552	G	C	18	45948586	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0295495514875431	0.15
18	43528552	G	T	18	45948586	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0137383623815946	0.162
18	43528553	A	C	18	45948587	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.609398053207123	0.552
18	43528553	A	G	18	45948587	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0369027371773733	0.122
18	43528553	A	T	18	45948587	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.980800386615245	0.788
18	43528554	A	C	18	45948588	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.805050868072324	0.664
18	43528554	A	G	18	45948588	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00621164670523499	0.126
18	43528554	A	T	18	45948588	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.827071512575903	0.686
18	43529442	C	A	18	45949476	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.2025211000171E-4	0.026
18	43529442	C	G	18	45949476	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.9538454914799E-4	0.012
18	43529442	C	T	18	45949476	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.6412967361558E-4	0.006
18	43529443	A	C	18	45949477	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.93409509653722E-5	0.004
18	43529443	A	G	18	45949477	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.68361863518531E-5	0.002
18	43529443	A	T	18	45949477	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.26991632257295E-5	0.002
18	43529444	T	A	18	45949478	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.03503109011911E-5	0.006
18	43529444	T	C	18	45949478	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.12417356937928E-5	0.002
18	43529444	T	G	18	45949478	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.42468690665863E-4	0.04
18	43529445	C	A	18	45949479	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.940844675084827	0.656
18	43529445	C	G	18	45949479	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995037476405185	0.66
18	43529445	C	T	18	45949479	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.925754340893708	0.544
18	43529446	A	C	18	45949480	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.14366199467436E-4	0.0
18	43529446	A	G	18	45949480	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00111388394552672	0.016
18	43529446	A	T	18	45949480	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.94984747917461E-4	0.048
18	43529447	T	A	18	45949481	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998188385889597	0.72
18	43529447	T	C	18	45949481	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.980284972796776	0.656
18	43529447	T	G	18	45949481	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998448271718968	0.722
18	43529448	A	C	18	45949482	y	y	splicing	EPG5(NM_020964:exon6:c.1497+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1497+2T>G)	.	.	0.999988247793601	0.928
18	43529448	A	G	18	45949482	y	y	splicing	EPG5(NM_020964:exon6:c.1497+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1497+2T>C)	.	.	0.99340600729494	0.65
18	43529448	A	T	18	45949482	y	y	splicing	EPG5(NM_020964:exon6:c.1497+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1497+2T>A)	.	.	0.999988247793601	0.928
18	43529449	C	A	18	45949483	y	y	splicing	EPG5(NM_020964:exon6:c.1497+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1497+1G>T)	.	.	0.999981760802075	0.938
18	43529449	C	G	18	45949483	y	y	splicing	EPG5(NM_020964:exon6:c.1497+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1497+1G>C)	.	.	0.999981760802075	0.938
18	43529449	C	T	18	45949483	y	y	splicing	EPG5(NM_020964:exon6:c.1497+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1497+1G>A)	.	.	0.999981760802075	0.938
18	43529450	C	A	18	45949484	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.G1497T:p.Q499H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.G1497T:p.Q499H;	0.99998249913494	1.0
18	43529450	C	G	18	45949484	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.G1497C:p.Q499H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.G1497C:p.Q499H;	0.999995687653638	1.0
18	43529450	C	T	18	45949484	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon5:c.G1497A:p.Q499Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.G1497A:p.Q499Q;	0.999891215601383	0.998
18	43529451	T	A	18	45949485	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.A1496T:p.Q499L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.A1496T:p.Q499L;	0.999872346012809	0.99
18	43529451	T	C	18	45949485	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.A1496G:p.Q499R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.A1496G:p.Q499R;	0.999637683259567	1.0
18	43529451	T	G	18	45949485	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.A1496C:p.Q499P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.A1496C:p.Q499P;	0.999606248034106	0.984
18	43529452	G	A	18	45949486	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon5:c.C1495T:p.Q499X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon5:c.C1495T:p.Q499X;	0.998344523713984	0.946
18	43529452	G	C	18	45949486	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.C1495G:p.Q499E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.C1495G:p.Q499E;	0.842809823175354	0.638
18	43529452	G	T	18	45949486	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.C1495A:p.Q499K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.C1495A:p.Q499K;	0.951981852007004	0.824
18	43529556	A	C	18	45949590	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.T1391G:p.V464G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.T1391G:p.V464G;	0.185300709116619	0.358
18	43529556	A	G	18	45949590	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.T1391C:p.V464A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.T1391C:p.V464A;	0.526190675834558	0.332
18	43529556	A	T	18	45949590	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.T1391A:p.V464E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.T1391A:p.V464E;	0.442328202860223	0.342
18	43529557	C	A	18	45949591	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.G1390T:p.V464L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.G1390T:p.V464L;	0.999830458251192	0.99
18	43529557	C	G	18	45949591	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.G1390C:p.V464L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.G1390C:p.V464L;	0.999267123535038	0.968
18	43529557	C	T	18	45949591	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon5:c.G1390A:p.V464I;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon5:c.G1390A:p.V464I;	0.99419525416836	0.786
18	43529558	C	A	18	45949592	y	y	splicing	EPG5(NM_020964:exon6:c.1390-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1390-1G>T)	.	.	0.999956786857988	0.936
18	43529558	C	G	18	45949592	y	y	splicing	EPG5(NM_020964:exon6:c.1390-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1390-1G>C)	.	.	0.999955279531929	0.924
18	43529558	C	T	18	45949592	y	y	splicing	EPG5(NM_020964:exon6:c.1390-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1390-1G>A)	.	.	0.999956786857988	0.938
18	43529559	T	A	18	45949593	y	y	splicing	EPG5(NM_020964:exon6:c.1390-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1390-2A>T)	.	.	0.999971317418422	0.892
18	43529559	T	C	18	45949593	y	y	splicing	EPG5(NM_020964:exon6:c.1390-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1390-2A>G)	.	.	0.999971317418422	0.884
18	43529559	T	G	18	45949593	y	y	splicing	EPG5(NM_020964:exon6:c.1390-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon6:c.1390-2A>C)	.	.	0.999971317418422	0.884
18	43529560	G	A	18	45949594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.43623264163769E-4	0.002
18	43529560	G	C	18	45949594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99582512696473	0.662
18	43529560	G	T	18	45949594	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0987470765344371	0.402
18	43529561	A	C	18	45949595	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.49070589423427E-5	0.014
18	43529561	A	G	18	45949595	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.90519391035457E-5	0.03
18	43529561	A	T	18	45949595	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.89423848299497E-5	0.002
18	43529562	A	C	18	45949596	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.63905031483105	0.372
18	43529562	A	G	18	45949596	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.02490421413999E-4	0.036
18	43529562	A	T	18	45949596	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.139838584813721	0.276
18	43529563	C	A	18	45949597	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.89154781836561E-5	0.014
18	43529563	C	G	18	45949597	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.77820015979215E-5	0.022
18	43529563	C	T	18	45949597	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.79785139788674E-5	0.022
18	43529564	A	C	18	45949598	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00581431310746986	0.248
18	43529564	A	G	18	45949598	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.1442042937819E-5	0.048
18	43529564	A	T	18	45949598	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998779313589128	0.966
18	43529565	A	C	18	45949599	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994886338037956	0.936
18	43529565	A	G	18	45949599	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.96935904843091E-5	0.002
18	43529565	A	T	18	45949599	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00112726707265468	0.04
18	43529566	T	A	18	45949600	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.2410383844873E-5	0.0
18	43529566	T	C	18	45949600	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.10293507267307E-5	0.016
18	43529566	T	G	18	45949600	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.66602122352025E-6	0.0
18	43529567	A	C	18	45949601	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.041975089251645	0.436
18	43529567	A	G	18	45949601	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.01833285183299E-4	0.006
18	43529567	A	T	18	45949601	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0127616837247631	0.312
18	43529568	A	C	18	45949602	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.080061946058268	0.312
18	43529568	A	G	18	45949602	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.63552647231609E-4	0.046
18	43529568	A	T	18	45949602	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.17108986715568	0.316
18	43529569	A	C	18	45949603	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.158920609698882	0.336
18	43529569	A	G	18	45949603	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.19651698478779E-4	0.014
18	43529569	A	T	18	45949603	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.280392769490097	0.356
18	43531060	C	A	18	45951094	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.66788996267205E-5	0.0
18	43531060	C	G	18	45951094	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.01174165683835E-5	0.0
18	43531060	C	T	18	45951094	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.94971284426341E-5	0.0
18	43531061	C	A	18	45951095	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.36001895547276E-5	0.002
18	43531061	C	G	18	45951095	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.87043809484599E-5	0.002
18	43531061	C	T	18	45951095	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.88782612287377E-5	0.0
18	43531062	C	A	18	45951096	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.9674589431865E-5	0.026
18	43531062	C	G	18	45951096	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.72785332753265E-5	0.016
18	43531062	C	T	18	45951096	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.90380748389094E-5	0.012
18	43531063	C	A	18	45951097	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999868237351035	0.926
18	43531063	C	G	18	45951097	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999733138519883	0.986
18	43531063	C	T	18	45951097	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999612796676757	0.996
18	43531064	T	A	18	45951098	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.9983484010377	0.942
18	43531064	T	C	18	45951098	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.994644958999028	0.954
18	43531064	T	G	18	45951098	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995354127636402	0.836
18	43531065	T	A	18	45951099	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999671469666068	0.938
18	43531065	T	C	18	45951099	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.254115564519894	0.43
18	43531065	T	G	18	45951099	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999830024089185	0.914
18	43531066	A	C	18	45951100	y	y	splicing	EPG5(NM_020964:exon5:c.1389+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1389+2T>G)	.	.	0.999988247793601	0.928
18	43531066	A	G	18	45951100	y	y	splicing	EPG5(NM_020964:exon5:c.1389+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1389+2T>C)	.	.	0.999897703382408	0.874
18	43531066	A	T	18	45951100	y	y	splicing	EPG5(NM_020964:exon5:c.1389+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1389+2T>A)	.	.	0.999988247793601	0.928
18	43531067	C	A	18	45951101	y	y	splicing	EPG5(NM_020964:exon5:c.1389+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1389+1G>T)	.	.	0.999986675681007	0.932
18	43531067	C	G	18	45951101	y	y	splicing	EPG5(NM_020964:exon5:c.1389+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1389+1G>C)	.	.	0.999986675681007	0.932
18	43531067	C	T	18	45951101	y	y	splicing	EPG5(NM_020964:exon5:c.1389+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1389+1G>A)	.	.	0.999986675681007	0.932
18	43531068	C	A	18	45951102	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.G1389T:p.L463F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.G1389T:p.L463F;	0.99997731940877	1.0
18	43531068	C	G	18	45951102	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.G1389C:p.L463F;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.G1389C:p.L463F;	0.999996849704514	1.0
18	43531068	C	T	18	45951102	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon4:c.G1389A:p.L463L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.G1389A:p.L463L;	0.999912537660779	0.996
18	43531069	A	C	18	45951103	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.T1388G:p.L463W;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.T1388G:p.L463W;	0.686185546146726	0.68
18	43531069	A	G	18	45951103	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.T1388C:p.L463S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.T1388C:p.L463S;	0.920516842535466	0.836
18	43531069	A	T	18	45951103	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon4:c.T1388A:p.L463X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon4:c.T1388A:p.L463X;	0.730554359397158	0.668
18	43531070	A	C	18	45951104	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.T1387G:p.L463V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.T1387G:p.L463V;	1.63787952159596E-4	0.202
18	43531070	A	G	18	45951104	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon4:c.T1387C:p.L463L;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.T1387C:p.L463L;	6.06424113168857E-5	0.0
18	43531070	A	T	18	45951104	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.T1387A:p.L463M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.T1387A:p.L463M;	5.91408519512368E-5	0.162
18	43531203	C	A	18	45951237	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon4:c.G1254T:p.A418A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.G1254T:p.A418A;	9.25712051380913E-6	0.002
18	43531203	C	G	18	45951237	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon4:c.G1254C:p.A418A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.G1254C:p.A418A;	1.78654473410485E-5	0.03
18	43531203	C	T	18	45951237	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon4:c.G1254A:p.A418A;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.G1254A:p.A418A;	1.39358321930069E-4	0.0
18	43531204	G	A	18	45951238	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.C1253T:p.A418V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.C1253T:p.A418V;	1.22208392515684E-5	0.016
18	43531204	G	C	18	45951238	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.C1253G:p.A418G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.C1253G:p.A418G;	2.87747243356461E-5	0.16
18	43531204	G	T	18	45951238	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon4:c.C1253A:p.A418E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon4:c.C1253A:p.A418E;	1.59913492260779E-5	0.0
18	43531205	C	A	18	45951239	y	y	splicing	EPG5(NM_020964:exon5:c.1253-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1253-1G>T)	.	.	0.999987958061382	0.774
18	43531205	C	G	18	45951239	y	y	splicing	EPG5(NM_020964:exon5:c.1253-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1253-1G>C)	.	.	0.999987958061382	0.774
18	43531205	C	T	18	45951239	y	y	splicing	EPG5(NM_020964:exon5:c.1253-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1253-1G>A)	.	.	0.999987958061382	0.772
18	43531206	T	A	18	45951240	y	y	splicing	EPG5(NM_020964:exon5:c.1253-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1253-2A>T)	.	.	0.999962958601995	0.796
18	43531206	T	C	18	45951240	y	y	splicing	EPG5(NM_020964:exon5:c.1253-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1253-2A>G)	.	.	0.999980255680118	0.78
18	43531206	T	G	18	45951240	y	y	splicing	EPG5(NM_020964:exon5:c.1253-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon5:c.1253-2A>C)	.	.	0.999980255680118	0.78
18	43531207	G	A	18	45951241	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.42122310794889E-4	0.006
18	43531207	G	C	18	45951241	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.998547404336241	0.766
18	43531207	G	T	18	45951241	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.164118458302544	0.456
18	43531208	T	A	18	45951242	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.41043957348035E-5	0.002
18	43531208	T	C	18	45951242	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.60018304367578E-5	0.092
18	43531208	T	G	18	45951242	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.16618143066874E-5	0.056
18	43531209	A	C	18	45951243	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0051601022760512	0.23
18	43531209	A	G	18	45951243	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00110809541601954	0.048
18	43531209	A	T	18	45951243	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.20033421529811E-4	0.198
18	43531210	A	C	18	45951244	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.18186794276096E-4	0.202
18	43531210	A	G	18	45951244	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.71982274810462E-4	0.088
18	43531210	A	T	18	45951244	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.95154288546164E-4	0.164
18	43531211	A	C	18	45951245	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999057844689547	0.984
18	43531211	A	G	18	45951245	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.68166347129233E-5	0.046
18	43531211	A	T	18	45951245	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.78331943883607E-4	0.06
18	43531212	T	A	18	45951246	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.20543378537447E-5	0.006
18	43531212	T	C	18	45951246	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.24866557945128E-5	0.0
18	43531212	T	G	18	45951246	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.49344011687587E-5	0.006
18	43531213	G	A	18	45951247	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.42031616209718E-5	0.006
18	43531213	G	C	18	45951247	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.85055913694962E-4	0.08
18	43531213	G	T	18	45951247	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.87178909698388E-5	0.028
18	43531214	A	C	18	45951248	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.62022715201487E-4	0.09
18	43531214	A	G	18	45951248	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.59897048734929E-4	0.13
18	43531214	A	T	18	45951248	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.13943096788963E-4	0.18
18	43531215	A	C	18	45951249	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.74268979485692E-4	0.112
18	43531215	A	G	18	45951249	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.03360177397454E-4	0.046
18	43531215	A	T	18	45951249	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.12688747550669E-4	0.1
18	43531216	A	C	18	45951250	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.63593094423468E-4	0.116
18	43531216	A	G	18	45951250	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.43011834460982E-4	0.024
18	43531216	A	T	18	45951250	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00194165057496144	0.1
18	43532358	T	A	18	45952392	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00323796777374727	0.028
18	43532358	T	C	18	45952392	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00279754129585801	0.018
18	43532358	T	G	18	45952392	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00273348075941382	0.02
18	43532359	T	A	18	45952393	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.33141600191487E-5	0.0
18	43532359	T	C	18	45952393	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.73659410988803E-5	0.0
18	43532359	T	G	18	45952393	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.15941453541388E-5	0.0
18	43532360	A	C	18	45952394	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0117407469466946	0.276
18	43532360	A	G	18	45952394	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0518145427272752	0.312
18	43532360	A	T	18	45952394	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.185896832668141	0.348
18	43532361	C	A	18	45952395	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.815412264449611	0.516
18	43532361	C	G	18	45952395	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.996271986169764	0.622
18	43532361	C	T	18	45952395	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.933938620095699	0.46
18	43532362	A	C	18	45952396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.67513620450957E-5	0.002
18	43532362	A	G	18	45952396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.40071866310321E-5	0.006
18	43532362	A	T	18	45952396	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.39220919447373E-4	0.088
18	43532363	T	A	18	45952397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.893241196197551	0.622
18	43532363	T	C	18	45952397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0297615981972007	0.436
18	43532363	T	G	18	45952397	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.946842196734132	0.612
18	43532364	A	C	18	45952398	y	y	splicing	EPG5(NM_020964:exon4:c.1252+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1252+2T>G)	.	.	0.999980255680118	0.784
18	43532364	A	G	18	45952398	y	y	splicing	EPG5(NM_020964:exon4:c.1252+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1252+2T>C)	.	.	0.882817901462391	0.594
18	43532364	A	T	18	45952398	y	y	splicing	EPG5(NM_020964:exon4:c.1252+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1252+2T>A)	.	.	0.999962958601995	0.806
18	43532365	C	A	18	45952399	y	y	splicing	EPG5(NM_020964:exon4:c.1252+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1252+1G>T)	.	.	0.999969242257053	0.896
18	43532365	C	G	18	45952399	y	y	splicing	EPG5(NM_020964:exon4:c.1252+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1252+1G>C)	.	.	0.999968430223941	0.874
18	43532365	C	T	18	45952399	y	y	splicing	EPG5(NM_020964:exon4:c.1252+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1252+1G>A)	.	.	0.99996748057446	0.906
18	43532366	C	A	18	45952400	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1252T:p.A418S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1252T:p.A418S;	0.99958490580685	0.904
18	43532366	C	G	18	45952400	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1252C:p.A418P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1252C:p.A418P;	0.998728221745216	0.546
18	43532366	C	T	18	45952400	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1252A:p.A418T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1252A:p.A418T;	0.999122753588214	0.8
18	43532367	T	A	18	45952401	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon3:c.A1251T:p.R417R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.A1251T:p.R417R;	0.691337316120856	0.492
18	43532367	T	C	18	45952401	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon3:c.A1251G:p.R417R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.A1251G:p.R417R;	0.668315928456595	0.442
18	43532367	T	G	18	45952401	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon3:c.A1251C:p.R417R;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.A1251C:p.R417R;	0.197337070532082	0.466
18	43532368	C	A	18	45952402	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1250T:p.R417L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1250T:p.R417L;	5.00265814474067E-5	0.14
18	43532368	C	G	18	45952402	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1250C:p.R417P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1250C:p.R417P;	1.13152715042624E-5	0.014
18	43532368	C	T	18	45952402	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1250A:p.R417Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1250A:p.R417Q;	1.13152715042624E-5	0.01
18	43532608	C	A	18	45952642	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1010T:p.G337V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1010T:p.G337V;	0.977247720412272	0.896
18	43532608	C	G	18	45952642	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1010C:p.G337A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1010C:p.G337A;	0.975051390192538	0.886
18	43532608	C	T	18	45952642	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1010A:p.G337D;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1010A:p.G337D;	0.985264451701993	0.822
18	43532609	C	A	18	45952643	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1009T:p.G337C;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1009T:p.G337C;	0.99970699889491	0.986
18	43532609	C	G	18	45952643	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1009C:p.G337R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1009C:p.G337R;	0.999521514481647	0.928
18	43532609	C	T	18	45952643	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon3:c.G1009A:p.G337S;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon3:c.G1009A:p.G337S;	0.999525891786482	0.976
18	43532610	C	A	18	45952644	y	y	splicing	EPG5(NM_020964:exon4:c.1009-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1009-1G>T)	.	.	0.999989072007339	0.934
18	43532610	C	G	18	45952644	y	y	splicing	EPG5(NM_020964:exon4:c.1009-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1009-1G>C)	.	.	0.999989072007339	0.932
18	43532610	C	T	18	45952644	y	y	splicing	EPG5(NM_020964:exon4:c.1009-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1009-1G>A)	.	.	0.999989072007339	0.934
18	43532611	T	A	18	45952645	y	y	splicing	EPG5(NM_020964:exon4:c.1009-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1009-2A>T)	.	.	0.999988247793601	0.93
18	43532611	T	C	18	45952645	y	y	splicing	EPG5(NM_020964:exon4:c.1009-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1009-2A>G)	.	.	0.999988247793601	0.93
18	43532611	T	G	18	45952645	y	y	splicing	EPG5(NM_020964:exon4:c.1009-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon4:c.1009-2A>C)	.	.	0.999988247793601	0.93
18	43532612	A	C	18	45952646	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999657022663086	0.752
18	43532612	A	G	18	45952646	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.61885848573902E-4	0.016
18	43532612	A	T	18	45952646	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.016743533359716	0.248
18	43532613	C	A	18	45952647	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.02294787453495E-5	0.004
18	43532613	C	G	18	45952647	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.88455954232656E-5	0.004
18	43532613	C	T	18	45952647	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.21762600600765E-5	0.004
18	43532614	C	A	18	45952648	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.72186611793037E-5	0.116
18	43532614	C	G	18	45952648	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.32727816174726E-5	0.006
18	43532614	C	T	18	45952648	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.247641053949073	0.55
18	43532615	A	C	18	45952649	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00370802145921724	0.142
18	43532615	A	G	18	45952649	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.45606654117979E-5	0.0
18	43532615	A	T	18	45952649	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.988561568634277	0.878
18	43532616	G	A	18	45952650	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.56955440859997E-5	0.004
18	43532616	G	C	18	45952650	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00439146731155948	0.108
18	43532616	G	T	18	45952650	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00439146731155948	0.106
18	43532617	A	C	18	45952651	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.43941901890272E-4	0.058
18	43532617	A	G	18	45952651	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.0322288786932E-6	0.0
18	43532617	A	T	18	45952651	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00120880434365688	0.052
18	43532618	G	A	18	45952652	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.55955572115086E-5	0.0
18	43532618	G	C	18	45952652	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.89175936943127E-4	0.028
18	43532618	G	T	18	45952652	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.50334111415016E-4	0.016
18	43532619	G	A	18	45952653	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.5450738237445E-5	0.0
18	43532619	G	C	18	45952653	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00222284437399308	0.054
18	43532619	G	T	18	45952653	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00905340828747278	0.084
18	43532620	A	C	18	45952654	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.23122732651715	0.47
18	43532620	A	G	18	45952654	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.73084472049012E-4	0.07
18	43532620	A	T	18	45952654	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.270957677160463	0.482
18	43532621	C	A	18	45952655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.43134158953909E-5	0.002
18	43532621	C	G	18	45952655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.53099305677659E-5	0.0
18	43532621	C	T	18	45952655	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	6.64401867479557E-5	0.0
18	43534352	C	A	18	45954386	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00111173135060906	0.096
18	43534352	C	G	18	45954386	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.37846192389471E-4	0.004
18	43534352	C	T	18	45954386	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.63122862226235E-4	0.01
18	43534353	A	C	18	45954387	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00333176681791063	0.004
18	43534353	A	G	18	45954387	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00213041263917906	0.004
18	43534353	A	T	18	45954387	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00268413176578212	0.018
18	43534354	A	C	18	45954388	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.27148052185672E-4	0.24
18	43534354	A	G	18	45954388	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00980327437854756	0.246
18	43534354	A	T	18	45954388	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00363603341494466	0.17
18	43534355	A	C	18	45954389	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.71060901847861E-4	0.062
18	43534355	A	G	18	45954389	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.05319724969941E-4	0.002
18	43534355	A	T	18	45954389	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.26046253967189E-4	0.018
18	43534356	A	C	18	45954390	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.03799989332666E-4	0.036
18	43534356	A	G	18	45954390	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.84757528184935E-4	0.08
18	43534356	A	T	18	45954390	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	3.53464639525607E-5	0.038
18	43534357	T	A	18	45954391	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999527091394617	0.948
18	43534357	T	C	18	45954391	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.9995923822754	0.942
18	43534357	T	G	18	45954391	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999822580526242	0.946
18	43534358	A	C	18	45954392	y	y	splicing	EPG5(NM_020964:exon3:c.1008+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.1008+2T>G)	.	.	0.999990764389106	0.942
18	43534358	A	G	18	45954392	y	y	splicing	EPG5(NM_020964:exon3:c.1008+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.1008+2T>C)	.	.	0.997160008796123	0.736
18	43534358	A	T	18	45954392	y	y	splicing	EPG5(NM_020964:exon3:c.1008+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.1008+2T>A)	.	.	0.999990764389106	0.942
18	43534359	C	A	18	45954393	y	y	splicing	EPG5(NM_020964:exon3:c.1008+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.1008+1G>T)	.	.	0.999992425382947	0.942
18	43534359	C	G	18	45954393	y	y	splicing	EPG5(NM_020964:exon3:c.1008+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.1008+1G>C)	.	.	0.999992425382947	0.942
18	43534359	C	T	18	45954393	y	y	splicing	EPG5(NM_020964:exon3:c.1008+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.1008+1G>A)	.	.	0.999992425382947	0.942
18	43534360	C	A	18	45954394	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.G1008T:p.Q336H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.G1008T:p.Q336H;	0.999989972246503	1.0
18	43534360	C	G	18	45954394	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.G1008C:p.Q336H;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.G1008C:p.Q336H;	0.999997397051864	1.0
18	43534360	C	T	18	45954394	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon2:c.G1008A:p.Q336Q;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.G1008A:p.Q336Q;	0.999978738093872	1.0
18	43534361	T	A	18	45954395	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.A1007T:p.Q336L;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.A1007T:p.Q336L;	0.999971588058666	0.992
18	43534361	T	C	18	45954395	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.A1007G:p.Q336R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.A1007G:p.Q336R;	0.999936513789838	1.0
18	43534361	T	G	18	45954395	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.A1007C:p.Q336P;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.A1007C:p.Q336P;	0.999921970716926	0.998
18	43534362	G	A	18	45954396	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon2:c.C1006T:p.Q336X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon2:c.C1006T:p.Q336X;	0.99985927339162	0.988
18	43534362	G	C	18	45954396	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.C1006G:p.Q336E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.C1006G:p.Q336E;	0.954760241816812	0.666
18	43534362	G	T	18	45954396	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.C1006A:p.Q336K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.C1006A:p.Q336K;	0.962017943780264	0.78
18	43535303	T	A	18	45955337	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.A65T:p.E22V;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.A65T:p.E22V;	0.875268618009854	0.714
18	43535303	T	C	18	45955337	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.A65G:p.E22G;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.A65G:p.E22G;	0.862874176198957	0.678
18	43535303	T	G	18	45955337	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.A65C:p.E22A;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.A65C:p.E22A;	0.853854719397532	0.772
18	43535304	C	A	18	45955338	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon2:c.G64T:p.E22X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon2:c.G64T:p.E22X;	0.999919890801539	0.98
18	43535304	C	G	18	45955338	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.G64C:p.E22Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.G64C:p.E22Q;	0.999899990535227	0.986
18	43535304	C	T	18	45955338	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon2:c.G64A:p.E22K;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon2:c.G64A:p.E22K;	0.998706958168766	0.966
18	43535305	C	A	18	45955339	y	y	splicing	EPG5(NM_020964:exon3:c.64-1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.64-1G>T)	.	.	0.999989072007339	0.932
18	43535305	C	G	18	45955339	y	y	splicing	EPG5(NM_020964:exon3:c.64-1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.64-1G>C)	.	.	0.999989072007339	0.932
18	43535305	C	T	18	45955339	y	y	splicing	EPG5(NM_020964:exon3:c.64-1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.64-1G>A)	.	.	0.999989072007339	0.932
18	43535306	T	A	18	45955340	y	y	splicing	EPG5(NM_020964:exon3:c.64-2A>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.64-2A>T)	.	.	0.999988247793601	0.93
18	43535306	T	C	18	45955340	y	y	splicing	EPG5(NM_020964:exon3:c.64-2A>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.64-2A>G)	.	.	0.999988247793601	0.93
18	43535306	T	G	18	45955340	y	y	splicing	EPG5(NM_020964:exon3:c.64-2A>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon3:c.64-2A>C)	.	.	0.999988247793601	0.93
18	43535307	A	C	18	45955341	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.99746020510421	0.756
18	43535307	A	G	18	45955341	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.19119587613286E-4	0.014
18	43535307	A	T	18	45955341	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0112636976241112	0.244
18	43535308	A	C	18	45955342	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00229597340921383	0.096
18	43535308	A	G	18	45955342	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.50265412312747E-4	0.002
18	43535308	A	T	18	45955342	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00318558671824485	0.112
18	43535309	A	C	18	45955343	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.773081885952144	0.488
18	43535309	A	G	18	45955343	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00263494196509439	0.05
18	43535309	A	T	18	45955343	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.582105447625396	0.426
18	43535310	A	C	18	45955344	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.126939557288686	0.424
18	43535310	A	G	18	45955344	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.76598446809145E-4	0.004
18	43535310	A	T	18	45955344	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.081300075577022	0.354
18	43535311	A	C	18	45955345	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0102364202950243	0.096
18	43535311	A	G	18	45955345	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.24245855739304E-5	0.004
18	43535311	A	T	18	45955345	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0569563052805827	0.08
18	43535312	C	A	18	45955346	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.85149583463194E-4	0.004
18	43535312	C	G	18	45955346	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.9913471996397E-4	0.0
18	43535312	C	T	18	45955346	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.21689393896392E-4	0.016
18	43535313	A	C	18	45955347	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.0772312493818244	0.424
18	43535313	A	G	18	45955347	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.08982268825679E-4	0.002
18	43535313	A	T	18	45955347	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999894236481094	0.944
18	43535314	A	C	18	45955348	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00942463592174225	0.138
18	43535314	A	G	18	45955348	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.02858225510614E-4	0.0
18	43535314	A	T	18	45955348	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.015313529482284	0.152
18	43535315	C	A	18	45955349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.62968628559124E-5	0.0
18	43535315	C	G	18	45955349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.23279447236286E-5	0.0
18	43535315	C	T	18	45955349	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.92892970584992E-5	0.002
18	43535316	A	C	18	45955350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999724648767143	0.904
18	43535316	A	G	18	45955350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	1.58652506505932E-4	0.052
18	43535316	A	T	18	45955350	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999912636140448	0.954
18	43547135	A	C	18	45967169	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.03384368775913E-5	0.0
18	43547135	A	G	18	45967169	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	5.13940802341965E-5	0.0
18	43547135	A	T	18	45967169	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.02355896872142E-5	0.002
18	43547136	T	A	18	45967170	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	7.52760792322483E-5	0.0
18	43547136	T	C	18	45967170	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.6154488586416E-5	0.0
18	43547136	T	G	18	45967170	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	4.6154488586416E-5	0.0
18	43547137	C	A	18	45967171	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	2.23152511352639E-4	0.002
18	43547137	C	G	18	45967171	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	8.12246015217368E-4	0.082
18	43547137	C	T	18	45967171	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.00112923872095404	0.052
18	43547138	C	A	18	45967172	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.999738403683762	0.94
18	43547138	C	G	18	45967172	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.991369616267949	0.728
18	43547138	C	T	18	45967172	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.997129357547035	0.918
18	43547139	T	A	18	45967173	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.995673199369406	0.8
18	43547139	T	C	18	45967173	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.993334109845638	0.818
18	43547139	T	G	18	45967173	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.936757765526647	0.626
18	43547140	C	A	18	45967174	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.351531314266351	0.438
18	43547140	C	G	18	45967174	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	0.32872043410242	0.478
18	43547140	C	T	18	45967174	y	y	intronic	EPG5	.	.	intronic	ENSG00000152223	.	.	9.85403860106067E-5	0.0
18	43547141	A	C	18	45967175	y	y	splicing	EPG5(NM_020964:exon2:c.63+2T>G)	.	.	splicing	ENSG00000152223(ENST00000282041:exon2:c.63+2T>G)	.	.	0.999978952611685	0.93
18	43547141	A	G	18	45967175	y	y	splicing	EPG5(NM_020964:exon2:c.63+2T>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon2:c.63+2T>C)	.	.	0.999874152059392	0.862
18	43547141	A	T	18	45967175	y	y	splicing	EPG5(NM_020964:exon2:c.63+2T>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon2:c.63+2T>A)	.	.	0.999988247793601	0.928
18	43547142	C	A	18	45967176	y	y	splicing	EPG5(NM_020964:exon2:c.63+1G>T)	.	.	splicing	ENSG00000152223(ENST00000282041:exon2:c.63+1G>T)	.	.	0.999985532734767	0.936
18	43547142	C	G	18	45967176	y	y	splicing	EPG5(NM_020964:exon2:c.63+1G>C)	.	.	splicing	ENSG00000152223(ENST00000282041:exon2:c.63+1G>C)	.	.	0.999985532734767	0.932
18	43547142	C	T	18	45967176	y	y	splicing	EPG5(NM_020964:exon2:c.63+1G>A)	.	.	splicing	ENSG00000152223(ENST00000282041:exon2:c.63+1G>A)	.	.	0.999985532734767	0.936
18	43547143	C	A	18	45967177	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon1:c.G63T:p.K21N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon1:c.G63T:p.K21N;	0.999978392344493	0.996
18	43547143	C	G	18	45967177	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon1:c.G63C:p.K21N;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon1:c.G63C:p.K21N;	0.999993456090961	0.994
18	43547143	C	T	18	45967177	y	y	exonic	EPG5	synonymous SNV	EPG5:NM_020964:exon1:c.G63A:p.K21K;	exonic	ENSG00000152223	synonymous SNV	ENSG00000152223:ENST00000282041:exon1:c.G63A:p.K21K;	0.999691656170364	0.986
18	43547144	T	A	18	45967178	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon1:c.A62T:p.K21M;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon1:c.A62T:p.K21M;	0.993961064603749	0.876
18	43547144	T	C	18	45967178	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon1:c.A62G:p.K21R;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon1:c.A62G:p.K21R;	0.997661042943355	0.906
18	43547144	T	G	18	45967178	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon1:c.A62C:p.K21T;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon1:c.A62C:p.K21T;	0.988249394171397	0.91
18	43547145	T	A	18	45967179	y	y	exonic	EPG5	stopgain SNV	EPG5:NM_020964:exon1:c.A61T:p.K21X;	exonic	ENSG00000152223	stopgain SNV	ENSG00000152223:ENST00000282041:exon1:c.A61T:p.K21X;	0.957052134469743	0.71
18	43547145	T	C	18	45967179	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon1:c.A61G:p.K21E;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon1:c.A61G:p.K21E;	0.304726261404751	0.482
18	43547145	T	G	18	45967179	y	y	exonic	EPG5	nonsynonymous SNV	EPG5:NM_020964:exon1:c.A61C:p.K21Q;	exonic	ENSG00000152223	nonsynonymous SNV	ENSG00000152223:ENST00000282041:exon1:c.A61C:p.K21Q;	0.582422029137703	0.514
18	43565415	T	A	18	45985449	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon14:c.A918T:p.E306D;	0.0447257035310839	0.498
18	43565415	T	C	18	45985449	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000589328:exon14:c.A918G:p.E306E;	0.0570153069905496	0.292
18	43565415	T	G	18	45985449	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon14:c.A918C:p.E306D;	0.0862414640583848	0.3
18	43565416	T	A	18	45985450	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon14:c.A917T:p.E306V;	0.0329949578428375	0.272
18	43565416	T	C	18	45985450	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon14:c.A917G:p.E306G;	0.00233557425423762	0.02
18	43565416	T	G	18	45985450	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon14:c.A917C:p.E306A;	0.0273511851879546	0.142
18	43565417	C	A	18	45985451	y	y	splicing	PSTPIP2(NM_024430:exon16:c.1014-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon16:c.1014-1G>T;ENST00000589328:exon15:c.917-1G>T)	.	.	0.999985532734767	0.89
18	43565417	C	G	18	45985451	y	y	splicing	PSTPIP2(NM_024430:exon16:c.1014-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon16:c.1014-1G>C;ENST00000589328:exon15:c.917-1G>C)	.	.	0.999985532734767	0.938
18	43565417	C	T	18	45985451	y	y	splicing	PSTPIP2(NM_024430:exon16:c.1014-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon16:c.1014-1G>A;ENST00000589328:exon15:c.917-1G>A)	.	.	0.999985532734767	0.936
18	43565418	T	A	18	45985452	y	y	splicing	PSTPIP2(NM_024430:exon16:c.1014-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon16:c.1014-2A>T;ENST00000589328:exon15:c.917-2A>T)	.	.	0.999986607513753	0.92
18	43565418	T	C	18	45985452	y	y	splicing	PSTPIP2(NM_024430:exon16:c.1014-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon16:c.1014-2A>G;ENST00000589328:exon15:c.917-2A>G)	.	.	0.999986607513753	0.92
18	43565418	T	G	18	45985452	y	y	splicing	PSTPIP2(NM_024430:exon16:c.1014-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon16:c.1014-2A>C;ENST00000589328:exon15:c.917-2A>C)	.	.	0.999986607513753	0.92
18	43565419	G	A	18	45985453	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.112615598862093	0.102
18	43565419	G	C	18	45985453	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999874114243847	0.942
18	43565419	G	T	18	45985453	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.975361182837912	0.734
18	43565420	A	C	18	45985454	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.17256930583704E-5	0.004
18	43565420	A	G	18	45985454	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.34553430190346E-4	0.024
18	43565420	A	T	18	45985454	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.35056641352697E-4	0.012
18	43565421	A	C	18	45985455	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0775175272852827	0.342
18	43565421	A	G	18	45985455	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00808718793973458	0.14
18	43565421	A	T	18	45985455	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0704593710204386	0.332
18	43565422	A	C	18	45985456	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0143232379368643	0.144
18	43565422	A	G	18	45985456	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.25345643217844E-4	0.008
18	43565422	A	T	18	45985456	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.021419531859786	0.14
18	43565423	G	A	18	45985457	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00503908169935042	0.058
18	43565423	G	C	18	45985457	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0164547907249897	0.168
18	43565423	G	T	18	45985457	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0711618377377366	0.29
18	43565424	A	C	18	45985458	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00320469802150735	0.078
18	43565424	A	G	18	45985458	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00217379020332516	0.014
18	43565424	A	T	18	45985458	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00290817042275945	0.056
18	43565425	A	C	18	45985459	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.53408277808191E-5	0.084
18	43565425	A	G	18	45985459	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.44693577927753E-5	0.042
18	43565425	A	T	18	45985459	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.20848670613546E-5	0.082
18	43565426	A	C	18	45985460	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00320935605737659	0.134
18	43565426	A	G	18	45985460	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00130326482987882	0.026
18	43565426	A	T	18	45985460	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0110244602906222	0.176
18	43565427	A	C	18	45985461	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998920219181805	0.886
18	43565427	A	G	18	45985461	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00390929290491502	0.024
18	43565427	A	T	18	45985461	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0127510186361309	0.182
18	43565428	T	A	18	45985462	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.89255936356004E-5	0.016
18	43565428	T	C	18	45985462	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.59805098204885E-4	0.034
18	43565428	T	G	18	45985462	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.81482959343947E-5	0.018
18	43568660	G	A	18	45988694	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.17403870497182E-5	0.002
18	43568660	G	C	18	45988694	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.83063522924023E-5	0.0
18	43568660	G	T	18	45988694	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.83063522924023E-5	0.0
18	43568661	T	A	18	45988695	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.24450295635078E-5	0.0
18	43568661	T	C	18	45988695	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.54404724015672E-5	0.0
18	43568661	T	G	18	45988695	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.54404724015672E-5	0.0
18	43568662	T	A	18	45988696	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.73202924469706E-5	0.0
18	43568662	T	C	18	45988696	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.21715196543626E-5	0.002
18	43568662	T	G	18	45988696	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.75297080174208E-4	0.018
18	43568663	C	A	18	45988697	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999665725153667	0.854
18	43568663	C	G	18	45988697	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999942122178229	0.93
18	43568663	C	T	18	45988697	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999619062854643	0.898
18	43568664	T	A	18	45988698	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.537191512421421	0.526
18	43568664	T	C	18	45988698	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.237430988534275	0.46
18	43568664	T	G	18	45988698	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0562000508319785	0.382
18	43568665	T	A	18	45988699	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.759926624012035	0.608
18	43568665	T	C	18	45988699	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00636132065517751	0.186
18	43568665	T	G	18	45988699	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.895446989002613	0.67
18	43568666	A	C	18	45988700	y	y	splicing	PSTPIP2(NM_024430:exon15:c.1013+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.1013+2T>G;ENST00000589328:exon14:c.916+2T>G)	.	.	0.999971317418422	0.892
18	43568666	A	G	18	45988700	y	y	splicing	PSTPIP2(NM_024430:exon15:c.1013+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.1013+2T>C;ENST00000589328:exon14:c.916+2T>C)	.	.	0.999724251656727	0.832
18	43568666	A	T	18	45988700	y	y	splicing	PSTPIP2(NM_024430:exon15:c.1013+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.1013+2T>A;ENST00000589328:exon14:c.916+2T>A)	.	.	0.999971317418422	0.894
18	43568667	C	A	18	45988701	y	y	splicing	PSTPIP2(NM_024430:exon15:c.1013+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.1013+1G>T;ENST00000589328:exon14:c.916+1G>T)	.	.	0.999943620371814	0.926
18	43568667	C	G	18	45988701	y	y	splicing	PSTPIP2(NM_024430:exon15:c.1013+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.1013+1G>C;ENST00000589328:exon14:c.916+1G>C)	.	.	0.999955485601963	0.908
18	43568667	C	T	18	45988701	y	y	splicing	PSTPIP2(NM_024430:exon15:c.1013+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.1013+1G>A;ENST00000589328:exon14:c.916+1G>A)	.	.	0.999945520654368	0.94
18	43568668	C	A	18	45988702	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000589328:exon13:c.G916T:p.E306X;	0.99987102776817	0.94
18	43568668	C	G	18	45988702	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.G916C:p.E306Q;	0.999775431430688	0.858
18	43568668	C	T	18	45988702	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.G916A:p.E306K;	0.998251241428283	0.924
18	43568669	A	C	18	45988703	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.T915G:p.N305K;	8.7851126711835E-5	0.0
18	43568669	A	G	18	45988703	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.T915C:p.N305N;	5.84446136701453E-5	0.0
18	43568669	A	T	18	45988703	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.T915A:p.N305K;	5.46621587405842E-5	0.054
18	43568670	T	A	18	45988704	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.A914T:p.N305I;	2.52195779653266E-4	0.07
18	43568670	T	C	18	45988704	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.A914G:p.N305S;	9.55844602235122E-5	0.008
18	43568670	T	G	18	45988704	y	y	UTR3	PSTPIP2	.	.	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.A914C:p.N305T;	5.1645875418107E-5	0.0
18	43568724	A	C	18	45988758	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon14:c.T957G:p.D319E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon14:c.T957G:p.D319E;ENSG00000152229:ENST00000589328:exon13:c.T860G:p.M287R;	5.28364892441805E-4	0.028
18	43568724	A	G	18	45988758	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon14:c.T957C:p.D319D;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon13:c.T860C:p.M287T;	2.28705613977227E-4	0.026
18	43568724	A	T	18	45988758	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon14:c.T957A:p.D319E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon14:c.T957A:p.D319E;ENSG00000152229:ENST00000589328:exon13:c.T860A:p.M287K;	3.12226508716771E-4	0.028
18	43568725	T	A	18	45988759	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon14:c.A956T:p.D319V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon14:c.A956T:p.D319V;ENSG00000152229:ENST00000589328:exon13:c.A859T:p.M287L;	0.00285363471302014	0.092
18	43568725	T	C	18	45988759	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon14:c.A956G:p.D319G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon14:c.A956G:p.D319G;ENSG00000152229:ENST00000589328:exon13:c.A859G:p.M287V;	9.74999455440286E-5	0.0
18	43568725	T	G	18	45988759	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon14:c.A956C:p.D319A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon14:c.A956C:p.D319A;ENSG00000152229:ENST00000589328:exon13:c.A859C:p.M287L;	0.00252567558787626	0.062
18	43568726	C	A	18	45988760	y	y	splicing	PSTPIP2(NM_024430:exon15:c.956-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.956-1G>T;ENST00000589328:exon14:c.859-1G>T)	.	.	0.999983806599646	0.78
18	43568726	C	G	18	45988760	y	y	splicing	PSTPIP2(NM_024430:exon15:c.956-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.956-1G>C;ENST00000589328:exon14:c.859-1G>C)	.	.	0.999983806599646	0.77
18	43568726	C	T	18	45988760	y	y	splicing	PSTPIP2(NM_024430:exon15:c.956-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.956-1G>A;ENST00000589328:exon14:c.859-1G>A)	.	.	0.999983806599646	0.804
18	43568727	T	A	18	45988761	y	y	splicing	PSTPIP2(NM_024430:exon15:c.956-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.956-2A>T;ENST00000589328:exon14:c.859-2A>T)	.	.	0.999980255680118	0.792
18	43568727	T	C	18	45988761	y	y	splicing	PSTPIP2(NM_024430:exon15:c.956-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.956-2A>G;ENST00000589328:exon14:c.859-2A>G)	.	.	0.999980255680118	0.752
18	43568727	T	G	18	45988761	y	y	splicing	PSTPIP2(NM_024430:exon15:c.956-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon15:c.956-2A>C;ENST00000589328:exon14:c.859-2A>C)	.	.	0.999980255680118	0.75
18	43568728	G	A	18	45988762	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00180770955848606	0.112
18	43568728	G	C	18	45988762	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999788130663944	0.964
18	43568728	G	T	18	45988762	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.528790002655903	0.6
18	43568729	C	A	18	45988763	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.71693588741498E-5	0.004
18	43568729	C	G	18	45988763	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.5558038432077E-5	0.0
18	43568729	C	T	18	45988763	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.71693588741498E-5	0.0
18	43568730	A	C	18	45988764	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.1453454861609E-4	0.156
18	43568730	A	G	18	45988764	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.77161298104447E-5	0.002
18	43568730	A	T	18	45988764	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.976388712661934	0.838
18	43568731	A	C	18	45988765	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.86344484462779E-4	0.04
18	43568731	A	G	18	45988765	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.44836229041993E-4	0.004
18	43568731	A	T	18	45988765	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00130952630834294	0.092
18	43568732	A	C	18	45988766	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00411100739624775	0.034
18	43568732	A	G	18	45988766	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.84146183222405E-4	0.024
18	43568732	A	T	18	45988766	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00187824262236438	0.04
18	43568733	A	C	18	45988767	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.2874641304698E-4	0.038
18	43568733	A	G	18	45988767	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.85920098160764E-5	0.002
18	43568733	A	T	18	45988767	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.36873474286141E-4	0.044
18	43568734	G	A	18	45988768	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.80985944609019E-5	0.0
18	43568734	G	C	18	45988768	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.73317615607991E-4	0.096
18	43568734	G	T	18	45988768	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.84755511241255E-4	0.032
18	43568735	G	A	18	45988769	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.95278011238195E-5	0.0
18	43568735	G	C	18	45988769	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.7975992107753E-4	0.026
18	43568735	G	T	18	45988769	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.20325684640014E-4	0.028
18	43568736	C	A	18	45988770	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.21157118357279E-5	0.002
18	43568736	C	G	18	45988770	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.73105568125416E-5	0.002
18	43568736	C	T	18	45988770	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.24321628130089E-4	0.002
18	43568737	A	C	18	45988771	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00226720558704663	0.108
18	43568737	A	G	18	45988771	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.6675909100127E-4	0.028
18	43568737	A	T	18	45988771	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999947317480323	0.962
18	43570680	T	A	18	45990714	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.20745070023706E-5	0.0
18	43570680	T	C	18	45990714	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.20864745704218E-5	0.006
18	43570680	T	G	18	45990714	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.08695989664933E-4	0.004
18	43570681	G	A	18	45990715	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.4701709381907E-4	0.0
18	43570681	G	C	18	45990715	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.00206221854382E-4	0.014
18	43570681	G	T	18	45990715	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.93867034910869E-4	0.04
18	43570682	G	A	18	45990716	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.59536897497771E-5	0.002
18	43570682	G	C	18	45990716	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.39095101809188E-5	0.01
18	43570682	G	T	18	45990716	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.27414863118667E-4	0.008
18	43570683	C	A	18	45990717	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.997401199161116	0.788
18	43570683	C	G	18	45990717	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.992895291012966	0.688
18	43570683	C	T	18	45990717	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.991402343898429	0.65
18	43570684	A	C	18	45990718	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.05475474117279E-4	0.012
18	43570684	A	G	18	45990718	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.82406534745021E-4	0.028
18	43570684	A	T	18	45990718	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.18660769958468E-5	0.04
18	43570685	T	A	18	45990719	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.99913077012092	0.964
18	43570685	T	C	18	45990719	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.995464774935846	0.852
18	43570685	T	G	18	45990719	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998098524173684	0.946
18	43570686	A	C	18	45990720	y	y	splicing	PSTPIP2(NM_024430:exon14:c.955+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.955+2T>G;ENST00000589328:exon13:c.858+2T>G)	.	.	0.999988247793601	0.926
18	43570686	A	G	18	45990720	y	y	splicing	PSTPIP2(NM_024430:exon14:c.955+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.955+2T>C;ENST00000589328:exon13:c.858+2T>C)	.	.	0.986973409415639	0.636
18	43570686	A	T	18	45990720	y	y	splicing	PSTPIP2(NM_024430:exon14:c.955+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.955+2T>A;ENST00000589328:exon13:c.858+2T>A)	.	.	0.999988247793601	0.926
18	43570687	C	A	18	45990721	y	y	splicing	PSTPIP2(NM_024430:exon14:c.955+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.955+1G>T;ENST00000589328:exon13:c.858+1G>T)	.	.	0.999986675681007	0.934
18	43570687	C	G	18	45990721	y	y	splicing	PSTPIP2(NM_024430:exon14:c.955+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.955+1G>C;ENST00000589328:exon13:c.858+1G>C)	.	.	0.999986675681007	0.934
18	43570687	C	T	18	45990721	y	y	splicing	PSTPIP2(NM_024430:exon14:c.955+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.955+1G>A;ENST00000589328:exon13:c.858+1G>A)	.	.	0.999986675681007	0.934
18	43570688	C	A	18	45990722	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.G955T:p.D319Y;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.G955T:p.D319Y;ENSG00000152229:ENST00000589328:exon12:c.G858T:p.Q286H;	0.999976661944673	0.936
18	43570688	C	G	18	45990722	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.G955C:p.D319H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.G955C:p.D319H;ENSG00000152229:ENST00000589328:exon12:c.G858C:p.Q286H;	0.99999455492526	0.994
18	43570688	C	T	18	45990722	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.G955A:p.D319N;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.G955A:p.D319N;	0.999938633305693	0.982
18	43570689	T	A	18	45990723	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon13:c.A954T:p.P318P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon12:c.A857T:p.Q286L;	0.992976935054217	0.92
18	43570689	T	C	18	45990723	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon13:c.A954G:p.P318P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon12:c.A857G:p.Q286R;	0.982839759667528	0.764
18	43570689	T	G	18	45990723	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon13:c.A954C:p.P318P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon12:c.A857C:p.Q286P;	0.970729718454062	0.798
18	43570690	G	A	18	45990724	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.C953T:p.P318L;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000589328:exon12:c.C856T:p.Q286X;	0.992270734484556	0.788
18	43570690	G	C	18	45990724	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.C953G:p.P318R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.C953G:p.P318R;ENSG00000152229:ENST00000589328:exon12:c.C856G:p.Q286E;	0.0277278319458864	0.1
18	43570690	G	T	18	45990724	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.C953A:p.P318Q;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.C953A:p.P318Q;ENSG00000152229:ENST00000589328:exon12:c.C856A:p.Q286K;	0.951375978781417	0.782
18	43570721	T	A	18	45990755	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon13:c.A922T:p.R308X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon13:c.A922T:p.R308X;	0.782823551867899	0.802
18	43570721	T	C	18	45990755	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.A922G:p.R308G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.A922G:p.R308G;	0.789666221188811	0.742
18	43570721	T	G	18	45990755	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon13:c.A922C:p.R308R;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.A922C:p.R308R;ENSG00000152229:ENST00000589328:exon12:c.A825C:p.G275G;	0.118840949007525	0.468
18	43570722	C	A	18	45990756	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.G921T:p.R307S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.G921T:p.R307S;ENSG00000152229:ENST00000589328:exon12:c.G824T:p.G275V;	0.968954360460368	0.732
18	43570722	C	G	18	45990756	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon13:c.G921C:p.R307S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon13:c.G921C:p.R307S;ENSG00000152229:ENST00000589328:exon12:c.G824C:p.G275A;	0.598542592852431	0.572
18	43570722	C	T	18	45990756	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon13:c.G921A:p.R307R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon12:c.G824A:p.G275E;	0.00857551862785462	0.2
18	43570723	C	A	18	45990757	y	y	splicing	PSTPIP2(NM_024430:exon14:c.921-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.921-1G>T;ENST00000589328:exon13:c.824-1G>T)	.	.	0.999986675681007	0.932
18	43570723	C	G	18	45990757	y	y	splicing	PSTPIP2(NM_024430:exon14:c.921-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.921-1G>C;ENST00000589328:exon13:c.824-1G>C)	.	.	0.999986675681007	0.932
18	43570723	C	T	18	45990757	y	y	splicing	PSTPIP2(NM_024430:exon14:c.921-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.921-1G>A;ENST00000589328:exon13:c.824-1G>A)	.	.	0.999986675681007	0.932
18	43570724	T	A	18	45990758	y	y	splicing	PSTPIP2(NM_024430:exon14:c.921-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.921-2A>T;ENST00000589328:exon13:c.824-2A>T)	.	.	0.999988247793601	0.928
18	43570724	T	C	18	45990758	y	y	splicing	PSTPIP2(NM_024430:exon14:c.921-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.921-2A>G;ENST00000589328:exon13:c.824-2A>G)	.	.	0.999988247793601	0.928
18	43570724	T	G	18	45990758	y	y	splicing	PSTPIP2(NM_024430:exon14:c.921-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon14:c.921-2A>C;ENST00000589328:exon13:c.824-2A>C)	.	.	0.999988247793601	0.928
18	43570725	G	A	18	45990759	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00132773401188877	0.074
18	43570725	G	C	18	45990759	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999381637157514	0.888
18	43570725	G	T	18	45990759	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.843753388694843	0.434
18	43570726	T	A	18	45990760	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.67486833946875E-4	0.018
18	43570726	T	C	18	45990760	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.97285894448997E-4	0.018
18	43570726	T	G	18	45990760	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.04177735461617E-4	0.0
18	43570727	A	C	18	45990761	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.929014450430752	0.614
18	43570727	A	G	18	45990761	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.204850326793129	0.374
18	43570727	A	T	18	45990761	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.927264844344904	0.572
18	43570728	A	C	18	45990762	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0126863997216223	0.136
18	43570728	A	G	18	45990762	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.28233943239868E-4	0.004
18	43570728	A	T	18	45990762	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0134367852684332	0.126
18	43570729	G	A	18	45990763	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.92404213981949E-4	0.0
18	43570729	G	C	18	45990763	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00248741141261013	0.072
18	43570729	G	T	18	45990763	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00512927659838381	0.23
18	43570730	A	C	18	45990764	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.144680518607962	0.41
18	43570730	A	G	18	45990764	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0271228154984208	0.472
18	43570730	A	T	18	45990764	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.456107346355328	0.394
18	43570731	A	C	18	45990765	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00259287878425873	0.114
18	43570731	A	G	18	45990765	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.33861612644697E-4	0.102
18	43570731	A	T	18	45990765	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00136957417702758	0.136
18	43570732	A	C	18	45990766	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999807557196062	0.902
18	43570732	A	G	18	45990766	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.234109595134965	0.474
18	43570732	A	T	18	45990766	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.831299136389652	0.608
18	43570733	T	A	18	45990767	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.75892513241599E-5	0.186
18	43570733	T	C	18	45990767	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.48292470475589E-5	0.064
18	43570733	T	G	18	45990767	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.54152593758097E-5	0.124
18	43570734	G	A	18	45990768	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.63484936696821E-5	0.098
18	43570734	G	C	18	45990768	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.4029381267647E-5	0.026
18	43570734	G	T	18	45990768	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.30545194487879E-5	0.036
18	43571860	G	A	18	45991894	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.23025351164208E-4	0.03
18	43571860	G	C	18	45991894	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.23025351164208E-4	0.03
18	43571860	G	T	18	45991894	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.23025351164208E-4	0.03
18	43571861	T	A	18	45991895	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.22066223646586E-4	0.014
18	43571861	T	C	18	45991895	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.09822375506518E-4	0.01
18	43571861	T	G	18	45991895	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.21014548232301E-4	0.0
18	43571862	T	A	18	45991896	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.07255952359218E-5	0.018
18	43571862	T	C	18	45991896	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.43293484972043E-5	0.002
18	43571862	T	G	18	45991896	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.05800633813328E-5	0.022
18	43571863	A	C	18	45991897	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.76701027204867E-4	0.08
18	43571863	A	G	18	45991897	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.39516765162921E-5	0.0
18	43571863	A	T	18	45991897	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.50698247806354E-4	0.004
18	43571864	T	A	18	45991898	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.224814143869378	0.412
18	43571864	T	C	18	45991898	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.833014865876657	0.556
18	43571864	T	G	18	45991898	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.200178243075315	0.432
18	43571865	T	A	18	45991899	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999732136727932	0.944
18	43571865	T	C	18	45991899	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.986782425745352	0.582
18	43571865	T	G	18	45991899	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999748735542862	0.932
18	43571866	A	C	18	45991900	y	y	splicing	PSTPIP2(NM_024430:exon13:c.920+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.920+2T>G;ENST00000589328:exon12:c.823+2T>G)	.	.	0.99994568797423	0.946
18	43571866	A	G	18	45991900	y	y	splicing	PSTPIP2(NM_024430:exon13:c.920+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.920+2T>C;ENST00000589328:exon12:c.823+2T>C)	.	.	0.943273932537554	0.66
18	43571866	A	T	18	45991900	y	y	splicing	PSTPIP2(NM_024430:exon13:c.920+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.920+2T>A;ENST00000589328:exon12:c.823+2T>A)	.	.	0.99994568797423	0.94
18	43571867	C	A	18	45991901	y	y	splicing	PSTPIP2(NM_024430:exon13:c.920+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.920+1G>T;ENST00000589328:exon12:c.823+1G>T)	.	.	0.999938422912956	0.942
18	43571867	C	G	18	45991901	y	y	splicing	PSTPIP2(NM_024430:exon13:c.920+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.920+1G>C;ENST00000589328:exon12:c.823+1G>C)	.	.	0.999938422912956	0.942
18	43571867	C	T	18	45991901	y	y	splicing	PSTPIP2(NM_024430:exon13:c.920+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.920+1G>A;ENST00000589328:exon12:c.823+1G>A)	.	.	0.999938422912956	0.932
18	43571868	C	A	18	45991902	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon12:c.G920T:p.R307M;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000589328:exon11:c.G823T:p.G275X;	0.999990846406755	0.99
18	43571868	C	G	18	45991902	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon12:c.G920C:p.R307T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon12:c.G920C:p.R307T;ENSG00000152229:ENST00000589328:exon11:c.G823C:p.G275R;	0.999997723605816	0.998
18	43571868	C	T	18	45991902	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon12:c.G920A:p.R307K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon12:c.G920A:p.R307K;ENSG00000152229:ENST00000589328:exon11:c.G823A:p.G275R;	0.999994213248802	1.0
18	43571869	T	A	18	45991903	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon12:c.A919T:p.R307W;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon12:c.A919T:p.R307W;ENSG00000152229:ENST00000589328:exon11:c.A822T:p.Q274H;	0.999787084210855	0.99
18	43571869	T	C	18	45991903	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon12:c.A919G:p.R307G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon12:c.A919G:p.R307G;	0.993935628718123	0.952
18	43571869	T	G	18	45991903	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon12:c.A919C:p.R307R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon11:c.A822C:p.Q274H;	0.644096541437903	0.616
18	43571870	T	A	18	45991904	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon12:c.A918T:p.A306A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon11:c.A821T:p.Q274L;	0.326684990434208	0.398
18	43571870	T	C	18	45991904	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon12:c.A918G:p.A306A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon11:c.A821G:p.Q274R;	0.00238758103646461	0.074
18	43571870	T	G	18	45991904	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon12:c.A918C:p.A306A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon11:c.A821C:p.Q274P;	0.0022178224824644	0.02
18	43571948	T	A	18	45991982	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon12:c.A840T:p.A280A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon11:c.A743T:p.H248L;	2.86816001337912E-5	0.004
18	43571948	T	C	18	45991982	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon12:c.A840G:p.A280A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon11:c.A743G:p.H248R;	1.42473430532462E-4	0.046
18	43571948	T	G	18	45991982	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon12:c.A840C:p.A280A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000589328:exon11:c.A743C:p.H248P;	8.27136637978636E-5	0.018
18	43571949	G	A	18	45991983	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon12:c.C839T:p.A280V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon12:c.C839T:p.A280V;ENSG00000152229:ENST00000589328:exon11:c.C742T:p.H248Y;	0.996120020159422	0.846
18	43571949	G	C	18	45991983	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon12:c.C839G:p.A280G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon12:c.C839G:p.A280G;ENSG00000152229:ENST00000589328:exon11:c.C742G:p.H248D;	0.977422291633256	0.704
18	43571949	G	T	18	45991983	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon12:c.C839A:p.A280E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon12:c.C839A:p.A280E;ENSG00000152229:ENST00000589328:exon11:c.C742A:p.H248N;	0.97164833128523	0.746
18	43571950	C	A	18	45991984	y	y	splicing	PSTPIP2(NM_024430:exon13:c.839-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.839-1G>T;ENST00000589328:exon12:c.742-1G>T)	.	.	0.999989125585301	0.944
18	43571950	C	G	18	45991984	y	y	splicing	PSTPIP2(NM_024430:exon13:c.839-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.839-1G>C;ENST00000589328:exon12:c.742-1G>C)	.	.	0.999989125585301	0.944
18	43571950	C	T	18	45991984	y	y	splicing	PSTPIP2(NM_024430:exon13:c.839-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.839-1G>A;ENST00000589328:exon12:c.742-1G>A)	.	.	0.999989125585301	0.944
18	43571951	T	A	18	45991985	y	y	splicing	PSTPIP2(NM_024430:exon13:c.839-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.839-2A>T;ENST00000589328:exon12:c.742-2A>T)	.	.	0.999986741007567	0.946
18	43571951	T	C	18	45991985	y	y	splicing	PSTPIP2(NM_024430:exon13:c.839-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.839-2A>G;ENST00000589328:exon12:c.742-2A>G)	.	.	0.999986741007567	0.946
18	43571951	T	G	18	45991985	y	y	splicing	PSTPIP2(NM_024430:exon13:c.839-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon13:c.839-2A>C;ENST00000589328:exon12:c.742-2A>C)	.	.	0.999986741007567	0.946
18	43571952	A	C	18	45991986	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999215468337855	0.748
18	43571952	A	G	18	45991986	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.59517455195276E-5	0.022
18	43571952	A	T	18	45991986	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.975388833062937	0.57
18	43571953	G	A	18	45991987	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.41678658111297E-5	0.014
18	43571953	G	C	18	45991987	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.89015171741436E-4	0.21
18	43571953	G	T	18	45991987	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.31987679709102E-5	0.01
18	43571954	G	A	18	45991988	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.52957118129583E-4	0.066
18	43571954	G	C	18	45991988	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0618228466015273	0.182
18	43571954	G	T	18	45991988	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0058113252124176	0.126
18	43571955	A	C	18	45991989	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.909163434828112	0.636
18	43571955	A	G	18	45991989	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.45085223871568E-4	0.036
18	43571955	A	T	18	45991989	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.878244078133818	0.634
18	43571956	G	A	18	45991990	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.2686729650423E-5	0.006
18	43571956	G	C	18	45991990	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.89425791585541E-4	0.16
18	43571956	G	T	18	45991990	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00146803237479317	0.12
18	43571957	A	C	18	45991991	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00262669013574645	0.288
18	43571957	A	G	18	45991991	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.49205955046224E-4	0.004
18	43571957	A	T	18	45991991	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.622592911542457	0.586
18	43571958	G	A	18	45991992	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.71182572594013E-5	0.002
18	43571958	G	C	18	45991992	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.990657745062194	0.856
18	43571958	G	T	18	45991992	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.82974193354304E-4	0.06
18	43571959	T	A	18	45991993	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.94676664783226E-5	0.002
18	43571959	T	C	18	45991993	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.28226608400645E-5	0.01
18	43571959	T	G	18	45991993	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.94676664783226E-5	0.004
18	43571960	C	A	18	45991994	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.04110390225611E-5	0.122
18	43571960	C	G	18	45991994	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.35429235387527E-5	0.004
18	43571960	C	T	18	45991994	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.519704342901E-4	0.06
18	43571961	A	C	18	45991995	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.93606479404213	0.69
18	43571961	A	G	18	45991995	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0273179535556389	0.272
18	43571961	A	T	18	45991995	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999889093641541	0.99
18	43572064	C	A	18	45992098	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.63364912545956E-4	0.01
18	43572064	C	G	18	45992098	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.63364912545956E-4	0.01
18	43572064	C	T	18	45992098	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00142632660679155	0.014
18	43572065	C	A	18	45992099	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00148156913151674	0.172
18	43572065	C	G	18	45992099	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.67445179330888E-4	0.02
18	43572065	C	T	18	45992099	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.51308459201429E-4	0.008
18	43572066	A	C	18	45992100	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00198188355744669	0.18
18	43572066	A	G	18	45992100	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00957622818902249	0.2
18	43572066	A	T	18	45992100	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0248713931738309	0.378
18	43572067	T	A	18	45992101	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00159531749371882	0.216
18	43572067	T	C	18	45992101	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.18477392021979E-5	0.012
18	43572067	T	G	18	45992101	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00209533490295044	0.342
18	43572068	T	A	18	45992102	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999133569933717	0.948
18	43572068	T	C	18	45992102	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.99800372201268	0.96
18	43572068	T	G	18	45992102	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.99257492103254	0.848
18	43572069	C	A	18	45992103	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.997118153373346	0.866
18	43572069	C	G	18	45992103	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999459083354504	0.82
18	43572069	C	T	18	45992103	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0021708592877361	0.06
18	43572070	A	C	18	45992104	y	y	splicing	PSTPIP2(NM_024430:exon12:c.838+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.838+2T>G)	.	.	0.999988247793601	0.952
18	43572070	A	G	18	45992104	y	y	splicing	PSTPIP2(NM_024430:exon12:c.838+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.838+2T>C)	.	.	0.999943260809542	0.882
18	43572070	A	T	18	45992104	y	y	splicing	PSTPIP2(NM_024430:exon12:c.838+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.838+2T>A)	.	.	0.999988247793601	0.952
18	43572071	C	A	18	45992105	y	y	splicing	PSTPIP2(NM_024430:exon12:c.838+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.838+1G>T)	.	.	0.999989072007339	0.95
18	43572071	C	G	18	45992105	y	y	splicing	PSTPIP2(NM_024430:exon12:c.838+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.838+1G>C)	.	.	0.999989072007339	0.95
18	43572071	C	T	18	45992105	y	y	splicing	PSTPIP2(NM_024430:exon12:c.838+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.838+1G>A)	.	.	0.999989072007339	0.95
18	43572072	C	A	18	45992106	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.G838T:p.A280S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.G838T:p.A280S;	0.9999909253838	1.0
18	43572072	C	G	18	45992106	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.G838C:p.A280P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.G838C:p.A280P;	0.999997871243653	1.0
18	43572072	C	T	18	45992106	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.G838A:p.A280T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.G838A:p.A280T;	0.999992537576218	0.996
18	43572073	T	A	18	45992107	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon11:c.A837T:p.P279P;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.A837T:p.P279P;	0.999363874322301	0.996
18	43572073	T	C	18	45992107	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon11:c.A837G:p.P279P;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.A837G:p.P279P;	0.99908296221923	0.99
18	43572073	T	G	18	45992107	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon11:c.A837C:p.P279P;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.A837C:p.P279P;	0.996530458134511	0.952
18	43572074	G	A	18	45992108	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.C836T:p.P279L;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.C836T:p.P279L;	0.99622373739831	0.832
18	43572074	G	C	18	45992108	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.C836G:p.P279R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.C836G:p.P279R;	0.944699028326873	0.65
18	43572074	G	T	18	45992108	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.C836A:p.P279Q;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.C836A:p.P279Q;	0.89648031004501	0.766
18	43572167	A	C	18	45992201	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.T743G:p.M248R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.T743G:p.M248R;	0.0137759396078479	0.156
18	43572167	A	G	18	45992201	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.T743C:p.M248T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.T743C:p.M248T;	0.00913279450926094	0.114
18	43572167	A	T	18	45992201	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.T743A:p.M248K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.T743A:p.M248K;	0.0170831619793338	0.17
18	43572168	T	A	18	45992202	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.A742T:p.M248L;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.A742T:p.M248L;	8.68155773563847E-4	0.162
18	43572168	T	C	18	45992202	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.A742G:p.M248V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.A742G:p.M248V;	5.00655906863803E-4	0.026
18	43572168	T	G	18	45992202	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon11:c.A742C:p.M248L;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon11:c.A742C:p.M248L;	0.001781400555745	0.186
18	43572169	C	A	18	45992203	y	y	splicing	PSTPIP2(NM_024430:exon12:c.742-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.742-1G>T)	.	.	0.999967358293902	0.936
18	43572169	C	G	18	45992203	y	y	splicing	PSTPIP2(NM_024430:exon12:c.742-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.742-1G>C)	.	.	0.99996621969971	0.934
18	43572169	C	T	18	45992203	y	y	splicing	PSTPIP2(NM_024430:exon12:c.742-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.742-1G>A)	.	.	0.999967358293902	0.936
18	43572170	T	A	18	45992204	y	y	splicing	PSTPIP2(NM_024430:exon12:c.742-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.742-2A>T)	.	.	0.999963671976247	0.936
18	43572170	T	C	18	45992204	y	y	splicing	PSTPIP2(NM_024430:exon12:c.742-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.742-2A>G)	.	.	0.999971317418422	0.898
18	43572170	T	G	18	45992204	y	y	splicing	PSTPIP2(NM_024430:exon12:c.742-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon12:c.742-2A>C)	.	.	0.999971317418422	0.898
18	43572171	A	C	18	45992205	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.995572119231261	0.726
18	43572171	A	G	18	45992205	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.97965060960337E-5	0.024
18	43572171	A	T	18	45992205	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.111412003512545	0.346
18	43572172	A	C	18	45992206	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.797689933519679	0.926
18	43572172	A	G	18	45992206	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.34099413238572E-5	0.0
18	43572172	A	T	18	45992206	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.894188055336E-5	0.0
18	43572173	T	A	18	45992207	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.06924014186089E-6	0.028
18	43572173	T	C	18	45992207	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.23638016763312E-5	0.002
18	43572173	T	G	18	45992207	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.35078296347543E-6	0.0
18	43572174	A	C	18	45992208	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00165158960717617	0.138
18	43572174	A	G	18	45992208	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.30946630409265E-5	0.004
18	43572174	A	T	18	45992208	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00112368049610817	0.062
18	43572175	A	C	18	45992209	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.06160179575416E-4	0.022
18	43572175	A	G	18	45992209	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.65967603798426E-5	0.0
18	43572175	A	T	18	45992209	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.4862013156134E-4	0.014
18	43572176	A	C	18	45992210	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.38936457036909E-4	0.154
18	43572176	A	G	18	45992210	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.16580372127621E-5	0.0
18	43572176	A	T	18	45992210	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0022024391028684	0.092
18	43572177	A	C	18	45992211	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00677600802487276	0.09
18	43572177	A	G	18	45992211	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.10331613243193E-4	0.034
18	43572177	A	T	18	45992211	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00700239977214351	0.076
18	43572178	A	C	18	45992212	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00124180600771951	0.144
18	43572178	A	G	18	45992212	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.42443386139462E-4	0.004
18	43572178	A	T	18	45992212	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0137555985656654	0.12
18	43572179	A	C	18	45992213	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0861980181778652	0.406
18	43572179	A	G	18	45992213	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0122828068588104	0.178
18	43572179	A	T	18	45992213	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0701289060597984	0.462
18	43572180	A	C	18	45992214	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00674768117190364	0.226
18	43572180	A	G	18	45992214	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.88640446232544E-4	0.008
18	43572180	A	T	18	45992214	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0157057771658258	0.222
18	43573563	T	A	18	45993597	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.07014835428848E-5	0.0
18	43573563	T	C	18	45993597	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.35428655471156E-5	0.0
18	43573563	T	G	18	45993597	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.07014835428848E-5	0.0
18	43573564	G	A	18	45993598	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.35139999044428E-5	0.0
18	43573564	G	C	18	45993598	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.14222378774554E-5	0.004
18	43573564	G	T	18	45993598	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.35139999044428E-5	0.0
18	43573565	A	C	18	45993599	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.11165094599822	0.406
18	43573565	A	G	18	45993599	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.116518189119198	0.36
18	43573565	A	T	18	45993599	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.317362671266786	0.436
18	43573566	C	A	18	45993600	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999832079005428	0.874
18	43573566	C	G	18	45993600	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999488835758551	0.938
18	43573566	C	T	18	45993600	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.996064981103499	0.894
18	43573567	T	A	18	45993601	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.806366935930151	0.608
18	43573567	T	C	18	45993601	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.876383844261196	0.758
18	43573567	T	G	18	45993601	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.340011287850639	0.524
18	43573568	T	A	18	45993602	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.957135090707513	0.628
18	43573568	T	C	18	45993602	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00197348203962681	0.046
18	43573568	T	G	18	45993602	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998568524783561	0.732
18	43573569	A	C	18	45993603	y	y	splicing	PSTPIP2(NM_024430:exon11:c.741+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.741+2T>G;ENST00000589328:exon11:c.741+2T>G)	.	.	0.999951957019574	0.914
18	43573569	A	G	18	45993603	y	y	splicing	PSTPIP2(NM_024430:exon11:c.741+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.741+2T>C;ENST00000589328:exon11:c.741+2T>C)	.	.	0.961797084605928	0.566
18	43573569	A	T	18	45993603	y	y	splicing	PSTPIP2(NM_024430:exon11:c.741+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.741+2T>A;ENST00000589328:exon11:c.741+2T>A)	.	.	0.999964896440643	0.934
18	43573570	C	A	18	45993604	y	y	splicing	PSTPIP2(NM_024430:exon11:c.741+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.741+1G>T;ENST00000589328:exon11:c.741+1G>T)	.	.	0.999960200702261	0.936
18	43573570	C	G	18	45993604	y	y	splicing	PSTPIP2(NM_024430:exon11:c.741+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.741+1G>C;ENST00000589328:exon11:c.741+1G>C)	.	.	0.999958812450268	0.934
18	43573570	C	T	18	45993604	y	y	splicing	PSTPIP2(NM_024430:exon11:c.741+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.741+1G>A;ENST00000589328:exon11:c.741+1G>A)	.	.	0.999960200702261	0.936
18	43573571	T	A	18	45993605	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.A741T:p.E247D;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.A741T:p.E247D;ENSG00000152229:ENST00000589328:exon10:c.A741T:p.E247D;	4.98687424357088E-5	0.04
18	43573571	T	C	18	45993605	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon10:c.A741G:p.E247E;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.A741G:p.E247E;ENSG00000152229:ENST00000589328:exon10:c.A741G:p.E247E;	2.00993482329815E-5	0.028
18	43573571	T	G	18	45993605	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.A741C:p.E247D;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.A741C:p.E247D;ENSG00000152229:ENST00000589328:exon10:c.A741C:p.E247D;	8.43029327247873E-5	0.052
18	43573572	T	A	18	45993606	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.A740T:p.E247V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.A740T:p.E247V;ENSG00000152229:ENST00000589328:exon10:c.A740T:p.E247V;	0.991316573731496	0.886
18	43573572	T	C	18	45993606	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.A740G:p.E247G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.A740G:p.E247G;ENSG00000152229:ENST00000589328:exon10:c.A740G:p.E247G;	0.994658697200984	0.914
18	43573572	T	G	18	45993606	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.A740C:p.E247A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.A740C:p.E247A;ENSG00000152229:ENST00000589328:exon10:c.A740C:p.E247A;	0.98787075212903	0.91
18	43573573	C	A	18	45993607	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon10:c.G739T:p.E247X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon10:c.G739T:p.E247X;ENSG00000152229:ENST00000589328:exon10:c.G739T:p.E247X;	0.00204751474021051	0.268
18	43573573	C	G	18	45993607	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.G739C:p.E247Q;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.G739C:p.E247Q;ENSG00000152229:ENST00000589328:exon10:c.G739C:p.E247Q;	1.61820674657044E-4	0.134
18	43573573	C	T	18	45993607	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.G739A:p.E247K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.G739A:p.E247K;ENSG00000152229:ENST00000589328:exon10:c.G739A:p.E247K;	3.65498456826061E-4	0.164
18	43573668	G	A	18	45993702	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.C644T:p.A215V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.C644T:p.A215V;ENSG00000152229:ENST00000589328:exon10:c.C644T:p.A215V;	4.26948013707808E-6	0.0
18	43573668	G	C	18	45993702	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.C644G:p.A215G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.C644G:p.A215G;ENSG00000152229:ENST00000589328:exon10:c.C644G:p.A215G;	2.20686293800453E-5	0.0
18	43573668	G	T	18	45993702	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.C644A:p.A215E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.C644A:p.A215E;ENSG00000152229:ENST00000589328:exon10:c.C644A:p.A215E;	3.50557095259685E-5	0.0
18	43573669	C	A	18	45993703	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.G643T:p.A215S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.G643T:p.A215S;ENSG00000152229:ENST00000589328:exon10:c.G643T:p.A215S;	0.987392879385715	0.61
18	43573669	C	G	18	45993703	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.G643C:p.A215P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.G643C:p.A215P;ENSG00000152229:ENST00000589328:exon10:c.G643C:p.A215P;	0.660073089118597	0.572
18	43573669	C	T	18	45993703	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon10:c.G643A:p.A215T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon10:c.G643A:p.A215T;ENSG00000152229:ENST00000589328:exon10:c.G643A:p.A215T;	0.0122298929763505	0.274
18	43573670	C	A	18	45993704	y	y	splicing	PSTPIP2(NM_024430:exon11:c.643-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.643-1G>T;ENST00000589328:exon11:c.643-1G>T)	.	.	0.999960200702261	0.936
18	43573670	C	G	18	45993704	y	y	splicing	PSTPIP2(NM_024430:exon11:c.643-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.643-1G>C;ENST00000589328:exon11:c.643-1G>C)	.	.	0.999958812450268	0.92
18	43573670	C	T	18	45993704	y	y	splicing	PSTPIP2(NM_024430:exon11:c.643-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.643-1G>A;ENST00000589328:exon11:c.643-1G>A)	.	.	0.999960200702261	0.938
18	43573671	T	A	18	45993705	y	y	splicing	PSTPIP2(NM_024430:exon11:c.643-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.643-2A>T;ENST00000589328:exon11:c.643-2A>T)	.	.	0.99997739437695	0.932
18	43573671	T	C	18	45993705	y	y	splicing	PSTPIP2(NM_024430:exon11:c.643-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.643-2A>G;ENST00000589328:exon11:c.643-2A>G)	.	.	0.999982151912279	0.894
18	43573671	T	G	18	45993705	y	y	splicing	PSTPIP2(NM_024430:exon11:c.643-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon11:c.643-2A>C;ENST00000589328:exon11:c.643-2A>C)	.	.	0.999982151912279	0.894
18	43573672	A	C	18	45993706	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.984602048155287	0.67
18	43573672	A	G	18	45993706	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.30080830684017E-5	0.026
18	43573672	A	T	18	45993706	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0139301789118323	0.254
18	43573673	C	A	18	45993707	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.53929084429736E-6	0.0
18	43573673	C	G	18	45993707	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.83559129380614E-6	0.0
18	43573673	C	T	18	45993707	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.1583907502259E-5	0.0
18	43573674	A	C	18	45993708	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0115731376497638	0.242
18	43573674	A	G	18	45993708	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.66843341722879E-5	0.0
18	43573674	A	T	18	45993708	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.979207586509937	0.908
18	43573675	G	A	18	45993709	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.63372685879242E-5	0.008
18	43573675	G	C	18	45993709	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.19141232260585E-4	0.14
18	43573675	G	T	18	45993709	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00183157669675447	0.16
18	43573676	A	C	18	45993710	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00170774257758148	0.14
18	43573676	A	G	18	45993710	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.81071122189605E-4	0.014
18	43573676	A	T	18	45993710	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00786020709925171	0.176
18	43573677	A	C	18	45993711	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.09689168676354E-4	0.16
18	43573677	A	G	18	45993711	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00112792785928125	0.054
18	43573677	A	T	18	45993711	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00138513649115216	0.136
18	43573678	A	C	18	45993712	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.21983652348529E-4	0.196
18	43573678	A	G	18	45993712	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.82598359630034E-4	0.004
18	43573678	A	T	18	45993712	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.19711908833593E-4	0.152
18	43573679	A	C	18	45993713	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.70202245166616E-4	0.082
18	43573679	A	G	18	45993713	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.15548203673231E-4	0.008
18	43573679	A	T	18	45993713	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00104788777373401	0.022
18	43573680	A	C	18	45993714	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999946777341724	0.964
18	43573680	A	G	18	45993714	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0041333580177402	0.136
18	43573680	A	T	18	45993714	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00705680092840552	0.35
18	43573681	T	A	18	45993715	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.1390795617917E-5	0.0
18	43573681	T	C	18	45993715	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.52979631299455E-5	0.006
18	43573681	T	G	18	45993715	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.73002864602581E-6	0.0
18	43577707	A	C	18	45997741	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.73691439841929E-4	0.012
18	43577707	A	G	18	45997741	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.25626060696914E-5	0.006
18	43577707	A	T	18	45997741	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.11106957301497E-4	0.01
18	43577708	C	A	18	45997742	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.10869276993352E-4	0.0
18	43577708	C	G	18	45997742	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.1939422889576E-5	0.0
18	43577708	C	T	18	45997742	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.95423509845693E-4	0.006
18	43577709	G	A	18	45997743	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.15978451883576E-5	0.002
18	43577709	G	C	18	45997743	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.46930695796461E-5	0.028
18	43577709	G	T	18	45997743	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.62125686206021E-4	0.028
18	43577710	G	A	18	45997744	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00131821799326334	0.038
18	43577710	G	C	18	45997744	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.17067294246663E-4	0.094
18	43577710	G	T	18	45997744	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.33431862152521E-4	0.018
18	43577711	G	A	18	45997745	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00146039482463861	0.02
18	43577711	G	C	18	45997745	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.12226302777429E-4	0.056
18	43577711	G	T	18	45997745	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.21131808319645E-4	0.12
18	43577712	T	A	18	45997746	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999986265951541	0.99
18	43577712	T	C	18	45997746	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998929901478816	0.944
18	43577712	T	G	18	45997746	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999975652281344	0.972
18	43577713	A	C	18	45997747	y	y	splicing	PSTPIP2(NM_024430:exon10:c.642+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.642+2T>G;ENST00000589328:exon10:c.642+2T>G)	.	.	0.999992446697775	0.94
18	43577713	A	G	18	45997747	y	y	splicing	PSTPIP2(NM_024430:exon10:c.642+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.642+2T>C;ENST00000589328:exon10:c.642+2T>C)	.	.	0.989838600809155	0.656
18	43577713	A	T	18	45997747	y	y	splicing	PSTPIP2(NM_024430:exon10:c.642+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.642+2T>A;ENST00000589328:exon10:c.642+2T>A)	.	.	0.999992446697775	0.94
18	43577714	C	A	18	45997748	y	y	splicing	PSTPIP2(NM_024430:exon10:c.642+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.642+1G>T;ENST00000589328:exon10:c.642+1G>T)	.	.	0.999990361384395	0.926
18	43577714	C	G	18	45997748	y	y	splicing	PSTPIP2(NM_024430:exon10:c.642+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.642+1G>C;ENST00000589328:exon10:c.642+1G>C)	.	.	0.999990361384395	0.926
18	43577714	C	T	18	45997748	y	y	splicing	PSTPIP2(NM_024430:exon10:c.642+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.642+1G>A;ENST00000589328:exon10:c.642+1G>A)	.	.	0.999990361384395	0.926
18	43577715	C	A	18	45997749	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.G642T:p.E214D;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.G642T:p.E214D;ENSG00000152229:ENST00000589328:exon9:c.G642T:p.E214D;	0.999992900155385	0.992
18	43577715	C	G	18	45997749	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.G642C:p.E214D;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.G642C:p.E214D;ENSG00000152229:ENST00000589328:exon9:c.G642C:p.E214D;	0.999996004694715	0.994
18	43577715	C	T	18	45997749	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon9:c.G642A:p.E214E;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.G642A:p.E214E;ENSG00000152229:ENST00000589328:exon9:c.G642A:p.E214E;	0.999987642238107	0.998
18	43577716	T	A	18	45997750	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.A641T:p.E214V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.A641T:p.E214V;ENSG00000152229:ENST00000589328:exon9:c.A641T:p.E214V;	0.999945763192664	0.998
18	43577716	T	C	18	45997750	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.A641G:p.E214G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.A641G:p.E214G;ENSG00000152229:ENST00000589328:exon9:c.A641G:p.E214G;	0.999949395457184	0.994
18	43577716	T	G	18	45997750	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.A641C:p.E214A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.A641C:p.E214A;ENSG00000152229:ENST00000589328:exon9:c.A641C:p.E214A;	0.99990171684364	0.998
18	43577717	C	A	18	45997751	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon9:c.G640T:p.E214X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon9:c.G640T:p.E214X;ENSG00000152229:ENST00000589328:exon9:c.G640T:p.E214X;	0.551300046282644	0.458
18	43577717	C	G	18	45997751	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.G640C:p.E214Q;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.G640C:p.E214Q;ENSG00000152229:ENST00000589328:exon9:c.G640C:p.E214Q;	0.00367734164659518	0.156
18	43577717	C	T	18	45997751	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.G640A:p.E214K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.G640A:p.E214K;ENSG00000152229:ENST00000589328:exon9:c.G640A:p.E214K;	0.212973919978582	0.332
18	43577793	G	A	18	45997827	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon9:c.C564T:p.D188D;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.C564T:p.D188D;ENSG00000152229:ENST00000589328:exon9:c.C564T:p.D188D;	2.16762762186061E-4	0.002
18	43577793	G	C	18	45997827	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.C564G:p.D188E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.C564G:p.D188E;ENSG00000152229:ENST00000589328:exon9:c.C564G:p.D188E;	1.91283719491639E-4	0.01
18	43577793	G	T	18	45997827	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.C564A:p.D188E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.C564A:p.D188E;ENSG00000152229:ENST00000589328:exon9:c.C564A:p.D188E;	4.12445605950231E-5	0.008
18	43577794	T	A	18	45997828	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.A563T:p.D188V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.A563T:p.D188V;ENSG00000152229:ENST00000589328:exon9:c.A563T:p.D188V;	0.737436938517326	0.392
18	43577794	T	C	18	45997828	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.A563G:p.D188G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.A563G:p.D188G;ENSG00000152229:ENST00000589328:exon9:c.A563G:p.D188G;	0.0445254283352645	0.246
18	43577794	T	G	18	45997828	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon9:c.A563C:p.D188A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon9:c.A563C:p.D188A;ENSG00000152229:ENST00000589328:exon9:c.A563C:p.D188A;	0.769671640105658	0.444
18	43577795	C	A	18	45997829	y	y	splicing	PSTPIP2(NM_024430:exon10:c.563-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.563-1G>T;ENST00000589328:exon10:c.563-1G>T)	.	.	0.999982737877662	0.916
18	43577795	C	G	18	45997829	y	y	splicing	PSTPIP2(NM_024430:exon10:c.563-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.563-1G>C;ENST00000589328:exon10:c.563-1G>C)	.	.	0.999982737877662	0.918
18	43577795	C	T	18	45997829	y	y	splicing	PSTPIP2(NM_024430:exon10:c.563-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.563-1G>A;ENST00000589328:exon10:c.563-1G>A)	.	.	0.999990361384395	0.918
18	43577796	T	A	18	45997830	y	y	splicing	PSTPIP2(NM_024430:exon10:c.563-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.563-2A>T;ENST00000589328:exon10:c.563-2A>T)	.	.	0.999992446697775	0.932
18	43577796	T	C	18	45997830	y	y	splicing	PSTPIP2(NM_024430:exon10:c.563-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.563-2A>G;ENST00000589328:exon10:c.563-2A>G)	.	.	0.999986472513537	0.932
18	43577796	T	G	18	45997830	y	y	splicing	PSTPIP2(NM_024430:exon10:c.563-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon10:c.563-2A>C;ENST00000589328:exon10:c.563-2A>C)	.	.	0.999986472513537	0.932
18	43577797	G	A	18	45997831	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.116955237911842	0.226
18	43577797	G	C	18	45997831	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.99976669935238	0.964
18	43577797	G	T	18	45997831	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999321035528388	0.88
18	43577798	C	A	18	45997832	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.20020500211193E-5	0.004
18	43577798	C	G	18	45997832	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.02920292032585E-5	0.004
18	43577798	C	T	18	45997832	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.46541953313104E-5	0.01
18	43577799	A	C	18	45997833	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0260486739901154	0.336
18	43577799	A	G	18	45997833	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00197833216469025	0.024
18	43577799	A	T	18	45997833	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999367962300276	0.922
18	43577800	A	C	18	45997834	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00103622312679294	0.07
18	43577800	A	G	18	45997834	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.04289451967076E-4	0.016
18	43577800	A	T	18	45997834	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00169390694245268	0.118
18	43577801	C	A	18	45997835	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.95048459408849E-5	0.0
18	43577801	C	G	18	45997835	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.82024933597773E-5	0.004
18	43577801	C	T	18	45997835	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.98268194239126E-4	0.0
18	43577802	A	C	18	45997836	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0032597221904835	0.15
18	43577802	A	G	18	45997836	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.64844329335514E-5	0.012
18	43577802	A	T	18	45997836	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999866136372659	0.976
18	43577803	G	A	18	45997837	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.18616721564673E-5	0.008
18	43577803	G	C	18	45997837	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00215110028601625	0.3
18	43577803	G	T	18	45997837	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00286356915996323	0.156
18	43577804	A	C	18	45997838	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00219379671727877	0.078
18	43577804	A	G	18	45997838	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.42164982476127E-4	0.03
18	43577804	A	T	18	45997838	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.011947352669808	0.096
18	43577805	A	C	18	45997839	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00788874009026046	0.3
18	43577805	A	G	18	45997839	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0122370391218192	0.152
18	43577805	A	T	18	45997839	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00797385236545199	0.276
18	43577806	G	A	18	45997840	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.94914488945766E-4	0.058
18	43577806	G	C	18	45997840	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00737817120772131	0.22
18	43577806	G	T	18	45997840	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00559874327792583	0.14
18	43578752	C	A	18	45998786	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.5032718203259E-5	0.022
18	43578752	C	G	18	45998786	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.88593068144868E-5	0.012
18	43578752	C	T	18	45998786	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.32202345771768E-5	0.0
18	43578753	C	A	18	45998787	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.25359554396599E-5	0.002
18	43578753	C	G	18	45998787	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.86749964211462E-5	0.0
18	43578753	C	T	18	45998787	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.6153271628034E-5	0.0
18	43578754	C	A	18	45998788	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.86219768846384E-5	0.0
18	43578754	C	G	18	45998788	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.13789137436072E-4	0.052
18	43578754	C	T	18	45998788	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.05496027201491E-4	0.018
18	43578755	C	A	18	45998789	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999664784775546	0.908
18	43578755	C	G	18	45998789	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.963247000381645	0.628
18	43578755	C	T	18	45998789	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.902817140035945	0.87
18	43578756	T	A	18	45998790	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.92566174885342	0.59
18	43578756	T	C	18	45998790	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.936327714542972	0.598
18	43578756	T	G	18	45998790	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.858029650419787	0.496
18	43578757	C	A	18	45998791	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.34190900385677	0.494
18	43578757	C	G	18	45998791	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.369800693593964	0.448
18	43578757	C	T	18	45998791	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.88920987780603E-5	0.006
18	43578758	A	C	18	45998792	y	y	splicing	PSTPIP2(NM_024430:exon9:c.562+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.562+2T>G;ENST00000589328:exon9:c.562+2T>G)	.	.	0.999972871252391	0.876
18	43578758	A	G	18	45998792	y	y	splicing	PSTPIP2(NM_024430:exon9:c.562+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.562+2T>C;ENST00000589328:exon9:c.562+2T>C)	.	.	0.999807093745398	0.796
18	43578758	A	T	18	45998792	y	y	splicing	PSTPIP2(NM_024430:exon9:c.562+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.562+2T>A;ENST00000589328:exon9:c.562+2T>A)	.	.	0.999982151912279	0.892
18	43578759	C	A	18	45998793	y	y	splicing	PSTPIP2(NM_024430:exon9:c.562+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.562+1G>T;ENST00000589328:exon9:c.562+1G>T)	.	.	0.99996748057446	0.892
18	43578759	C	G	18	45998793	y	y	splicing	PSTPIP2(NM_024430:exon9:c.562+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.562+1G>C;ENST00000589328:exon9:c.562+1G>C)	.	.	0.999969242257053	0.88
18	43578759	C	T	18	45998793	y	y	splicing	PSTPIP2(NM_024430:exon9:c.562+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.562+1G>A;ENST00000589328:exon9:c.562+1G>A)	.	.	0.99996748057446	0.892
18	43578760	C	A	18	45998794	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.G562T:p.D188Y;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.G562T:p.D188Y;ENSG00000152229:ENST00000589328:exon8:c.G562T:p.D188Y;	0.999763716528856	0.982
18	43578760	C	G	18	45998794	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.G562C:p.D188H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.G562C:p.D188H;ENSG00000152229:ENST00000589328:exon8:c.G562C:p.D188H;	0.999951706316337	0.978
18	43578760	C	T	18	45998794	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.G562A:p.D188N;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.G562A:p.D188N;ENSG00000152229:ENST00000589328:exon8:c.G562A:p.D188N;	0.999957806761722	0.982
18	43578761	T	A	18	45998795	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon8:c.A561T:p.S187S;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.A561T:p.S187S;ENSG00000152229:ENST00000589328:exon8:c.A561T:p.S187S;	0.00819960312598404	0.402
18	43578761	T	C	18	45998795	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon8:c.A561G:p.S187S;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.A561G:p.S187S;ENSG00000152229:ENST00000589328:exon8:c.A561G:p.S187S;	0.022503587400555	0.372
18	43578761	T	G	18	45998795	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon8:c.A561C:p.S187S;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.A561C:p.S187S;ENSG00000152229:ENST00000589328:exon8:c.A561C:p.S187S;	0.00611751609493858	0.362
18	43578762	G	A	18	45998796	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.C560T:p.S187L;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.C560T:p.S187L;ENSG00000152229:ENST00000589328:exon8:c.C560T:p.S187L;	0.98031957425725	0.77
18	43578762	G	C	18	45998796	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon8:c.C560G:p.S187X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon8:c.C560G:p.S187X;ENSG00000152229:ENST00000589328:exon8:c.C560G:p.S187X;	0.881267558763371	0.644
18	43578762	G	T	18	45998796	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon8:c.C560A:p.S187X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon8:c.C560A:p.S187X;ENSG00000152229:ENST00000589328:exon8:c.C560A:p.S187X;	0.961172401332212	0.784
18	43578804	A	C	18	45998838	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.T518G:p.L173R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.T518G:p.L173R;ENSG00000152229:ENST00000589328:exon8:c.T518G:p.L173R;	0.127732494284208	0.378
18	43578804	A	G	18	45998838	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.T518C:p.L173P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.T518C:p.L173P;ENSG00000152229:ENST00000589328:exon8:c.T518C:p.L173P;	0.0661295546850965	0.364
18	43578804	A	T	18	45998838	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.T518A:p.L173H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.T518A:p.L173H;ENSG00000152229:ENST00000589328:exon8:c.T518A:p.L173H;	0.0868992999700646	0.428
18	43578805	G	A	18	45998839	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.C517T:p.L173F;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.C517T:p.L173F;ENSG00000152229:ENST00000589328:exon8:c.C517T:p.L173F;	0.994000541537785	0.892
18	43578805	G	C	18	45998839	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.C517G:p.L173V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.C517G:p.L173V;ENSG00000152229:ENST00000589328:exon8:c.C517G:p.L173V;	0.00113751898850743	0.104
18	43578805	G	T	18	45998839	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon8:c.C517A:p.L173I;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon8:c.C517A:p.L173I;ENSG00000152229:ENST00000589328:exon8:c.C517A:p.L173I;	0.801796524878494	0.624
18	43578806	C	A	18	45998840	y	y	splicing	PSTPIP2(NM_024430:exon9:c.517-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.517-1G>T;ENST00000589328:exon9:c.517-1G>T)	.	.	0.999986675681007	0.934
18	43578806	C	G	18	45998840	y	y	splicing	PSTPIP2(NM_024430:exon9:c.517-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.517-1G>C;ENST00000589328:exon9:c.517-1G>C)	.	.	0.999986675681007	0.934
18	43578806	C	T	18	45998840	y	y	splicing	PSTPIP2(NM_024430:exon9:c.517-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.517-1G>A;ENST00000589328:exon9:c.517-1G>A)	.	.	0.999986675681007	0.934
18	43578807	T	A	18	45998841	y	y	splicing	PSTPIP2(NM_024430:exon9:c.517-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.517-2A>T;ENST00000589328:exon9:c.517-2A>T)	.	.	0.999989917668626	0.928
18	43578807	T	C	18	45998841	y	y	splicing	PSTPIP2(NM_024430:exon9:c.517-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.517-2A>G;ENST00000589328:exon9:c.517-2A>G)	.	.	0.999989917668626	0.928
18	43578807	T	G	18	45998841	y	y	splicing	PSTPIP2(NM_024430:exon9:c.517-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon9:c.517-2A>C;ENST00000589328:exon9:c.517-2A>C)	.	.	0.999989917668626	0.928
18	43578808	G	A	18	45998842	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00533793575584774	0.086
18	43578808	G	C	18	45998842	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999759532393272	0.956
18	43578808	G	T	18	45998842	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.234566330479471	0.372
18	43578809	T	A	18	45998843	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0185648080669258	0.19
18	43578809	T	C	18	45998843	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00669998129935542	0.054
18	43578809	T	G	18	45998843	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0252153082463785	0.102
18	43578810	G	A	18	45998844	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.10018612867391E-4	0.0
18	43578810	G	C	18	45998844	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00245818324503513	0.082
18	43578810	G	T	18	45998844	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00111968732296499	0.09
18	43578811	A	C	18	45998845	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.151877359991048	0.286
18	43578811	A	G	18	45998845	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.23876420986117E-4	0.05
18	43578811	A	T	18	45998845	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0770925434941157	0.242
18	43578812	A	C	18	45998846	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0839630491772401	0.096
18	43578812	A	G	18	45998846	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.04257291759055E-5	0.0
18	43578812	A	T	18	45998846	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.389030464947464	0.382
18	43578813	A	C	18	45998847	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00113436431405611	0.088
18	43578813	A	G	18	45998847	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.36603523539162E-5	0.022
18	43578813	A	T	18	45998847	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00202021255868529	0.064
18	43578814	A	C	18	45998848	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.535869503701009	0.572
18	43578814	A	G	18	45998848	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.551131715809E-4	0.026
18	43578814	A	T	18	45998848	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.813224090986383	0.536
18	43578815	C	A	18	45998849	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.27693909805253E-4	0.0
18	43578815	C	G	18	45998849	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.63644964216331E-4	0.0
18	43578815	C	T	18	45998849	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.29545034198055E-4	0.04
18	43578816	A	C	18	45998850	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00939638440518459	0.154
18	43578816	A	G	18	45998850	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.29305688966361E-4	0.04
18	43578816	A	T	18	45998850	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999962083906815	0.938
18	43578817	A	C	18	45998851	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00287444474143083	0.2
18	43578817	A	G	18	45998851	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.5823680980288E-5	0.0
18	43578817	A	T	18	45998851	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00526137004895433	0.162
18	43579394	C	A	18	45999428	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.35141518024205E-4	0.16
18	43579394	C	G	18	45999428	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.76253643775456E-5	0.124
18	43579394	C	T	18	45999428	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.84600972705303E-4	0.14
18	43579395	T	A	18	45999429	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.25467202314132E-5	0.0
18	43579395	T	C	18	45999429	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.13879224812485E-5	0.0
18	43579395	T	G	18	45999429	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.15125035961338E-5	0.0
18	43579396	G	A	18	45999430	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.2414027373792E-5	0.002
18	43579396	G	C	18	45999430	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.67436344266518E-5	0.004
18	43579396	G	T	18	45999430	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.37297374344817E-4	0.014
18	43579397	G	A	18	45999431	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.62781889880265E-4	0.076
18	43579397	G	C	18	45999431	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.17700308023083E-5	0.008
18	43579397	G	T	18	45999431	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.18501382040414E-5	0.076
18	43579398	G	A	18	45999432	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0161096962809279	0.142
18	43579398	G	C	18	45999432	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00219240995275055	0.174
18	43579398	G	T	18	45999432	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.38138787261706E-4	0.094
18	43579399	T	A	18	45999433	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999867284411373	0.974
18	43579399	T	C	18	45999433	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.989354669834346	0.86
18	43579399	T	G	18	45999433	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999836331138876	0.954
18	43579400	A	C	18	45999434	y	y	splicing	PSTPIP2(NM_024430:exon8:c.516+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.516+2T>G;ENST00000589328:exon8:c.516+2T>G)	.	.	0.99996509239462	0.922
18	43579400	A	G	18	45999434	y	y	splicing	PSTPIP2(NM_024430:exon8:c.516+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.516+2T>C;ENST00000589328:exon8:c.516+2T>C)	.	.	0.986026837404736	0.62
18	43579400	A	T	18	45999434	y	y	splicing	PSTPIP2(NM_024430:exon8:c.516+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.516+2T>A;ENST00000589328:exon8:c.516+2T>A)	.	.	0.999981143907746	0.924
18	43579401	C	A	18	45999435	y	y	splicing	PSTPIP2(NM_024430:exon8:c.516+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.516+1G>T;ENST00000589328:exon8:c.516+1G>T)	.	.	0.999983636037506	0.926
18	43579401	C	G	18	45999435	y	y	splicing	PSTPIP2(NM_024430:exon8:c.516+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.516+1G>C;ENST00000589328:exon8:c.516+1G>C)	.	.	0.999978952611685	0.928
18	43579401	C	T	18	45999435	y	y	splicing	PSTPIP2(NM_024430:exon8:c.516+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.516+1G>A;ENST00000589328:exon8:c.516+1G>A)	.	.	0.999988247793601	0.926
18	43579402	C	A	18	45999436	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.G516T:p.K172N;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.G516T:p.K172N;ENSG00000152229:ENST00000589328:exon7:c.G516T:p.K172N;	0.999988073543784	0.998
18	43579402	C	G	18	45999436	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.G516C:p.K172N;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.G516C:p.K172N;ENSG00000152229:ENST00000589328:exon7:c.G516C:p.K172N;	0.999995343358555	0.994
18	43579402	C	T	18	45999436	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon7:c.G516A:p.K172K;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.G516A:p.K172K;ENSG00000152229:ENST00000589328:exon7:c.G516A:p.K172K;	0.99999114059832	0.986
18	43579403	T	A	18	45999437	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.A515T:p.K172M;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.A515T:p.K172M;ENSG00000152229:ENST00000589328:exon7:c.A515T:p.K172M;	0.999875339994546	0.994
18	43579403	T	C	18	45999437	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.A515G:p.K172R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.A515G:p.K172R;ENSG00000152229:ENST00000589328:exon7:c.A515G:p.K172R;	0.999849766482397	0.996
18	43579403	T	G	18	45999437	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.A515C:p.K172T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.A515C:p.K172T;ENSG00000152229:ENST00000589328:exon7:c.A515C:p.K172T;	0.999874259345797	0.994
18	43579404	T	A	18	45999438	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon7:c.A514T:p.K172X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon7:c.A514T:p.K172X;ENSG00000152229:ENST00000589328:exon7:c.A514T:p.K172X;	0.99294860428717	0.708
18	43579404	T	C	18	45999438	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.A514G:p.K172E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.A514G:p.K172E;ENSG00000152229:ENST00000589328:exon7:c.A514G:p.K172E;	0.245701752539976	0.382
18	43579404	T	G	18	45999438	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.A514C:p.K172Q;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.A514C:p.K172Q;ENSG00000152229:ENST00000589328:exon7:c.A514C:p.K172Q;	0.675843853716429	0.716
18	43579499	G	A	18	45999533	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.C419T:p.A140V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.C419T:p.A140V;ENSG00000152229:ENST00000589328:exon7:c.C419T:p.A140V;	0.975718727493157	0.732
18	43579499	G	C	18	45999533	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.C419G:p.A140G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.C419G:p.A140G;ENSG00000152229:ENST00000589328:exon7:c.C419G:p.A140G;	0.969440292113625	0.754
18	43579499	G	T	18	45999533	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.C419A:p.A140E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.C419A:p.A140E;ENSG00000152229:ENST00000589328:exon7:c.C419A:p.A140E;	0.972968398791561	0.65
18	43579500	C	A	18	45999534	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.G418T:p.A140S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.G418T:p.A140S;ENSG00000152229:ENST00000589328:exon7:c.G418T:p.A140S;	0.996413954539621	0.65
18	43579500	C	G	18	45999534	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.G418C:p.A140P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.G418C:p.A140P;ENSG00000152229:ENST00000589328:exon7:c.G418C:p.A140P;	0.999940763865826	0.84
18	43579500	C	T	18	45999534	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon7:c.G418A:p.A140T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon7:c.G418A:p.A140T;ENSG00000152229:ENST00000589328:exon7:c.G418A:p.A140T;	0.999935469644555	0.818
18	43579501	C	A	18	45999535	y	y	splicing	PSTPIP2(NM_024430:exon8:c.418-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.418-1G>T;ENST00000589328:exon8:c.418-1G>T)	.	.	0.999985312293731	0.858
18	43579501	C	G	18	45999535	y	y	splicing	PSTPIP2(NM_024430:exon8:c.418-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.418-1G>C;ENST00000589328:exon8:c.418-1G>C)	.	.	0.999985312293731	0.856
18	43579501	C	T	18	45999535	y	y	splicing	PSTPIP2(NM_024430:exon8:c.418-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.418-1G>A;ENST00000589328:exon8:c.418-1G>A)	.	.	0.99998228102046	0.858
18	43579502	T	A	18	45999536	y	y	splicing	PSTPIP2(NM_024430:exon8:c.418-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.418-2A>T;ENST00000589328:exon8:c.418-2A>T)	.	.	0.999964748962723	0.868
18	43579502	T	C	18	45999536	y	y	splicing	PSTPIP2(NM_024430:exon8:c.418-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.418-2A>G;ENST00000589328:exon8:c.418-2A>G)	.	.	0.999964748962723	0.868
18	43579502	T	G	18	45999536	y	y	splicing	PSTPIP2(NM_024430:exon8:c.418-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon8:c.418-2A>C;ENST00000589328:exon8:c.418-2A>C)	.	.	0.999964748962723	0.868
18	43579503	T	A	18	45999537	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.72885179639752E-4	0.068
18	43579503	T	C	18	45999537	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0239539021077194	0.21
18	43579503	T	G	18	45999537	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00150549901028331	0.134
18	43579504	T	A	18	45999538	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.32459025988628E-4	0.036
18	43579504	T	C	18	45999538	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.22824588015698E-4	0.064
18	43579504	T	G	18	45999538	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00159330660188342	0.06
18	43579505	G	A	18	45999539	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.78854935925433E-4	0.068
18	43579505	G	C	18	45999539	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999319797877714	0.918
18	43579505	G	T	18	45999539	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.012398841892241	0.264
18	43579506	T	A	18	45999540	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.50843327094913E-5	0.038
18	43579506	T	C	18	45999540	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00129843724837092	0.098
18	43579506	T	G	18	45999540	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.53199097837346E-5	0.056
18	43579507	C	A	18	45999541	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.41255179947061E-5	0.04
18	43579507	C	G	18	45999541	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.41255179947061E-5	0.028
18	43579507	C	T	18	45999541	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.51646634164512E-4	0.02
18	43579508	A	C	18	45999542	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.993018171308578	0.956
18	43579508	A	G	18	45999542	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.14693503444742E-4	0.038
18	43579508	A	T	18	45999542	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.993018171308578	0.954
18	43579509	T	A	18	45999543	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00125917296928125	0.108
18	43579509	T	C	18	45999543	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999089551054471	0.952
18	43579509	T	G	18	45999543	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.51434743293342E-4	0.066
18	43579510	T	A	18	45999544	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.19598922567057E-4	0.03
18	43579510	T	C	18	45999544	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.26705891831959E-4	0.106
18	43579510	T	G	18	45999544	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.40571710197868E-5	0.03
18	43579511	A	C	18	45999545	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999631273680379	0.908
18	43579511	A	G	18	45999545	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.77500503077412	0.63
18	43579511	A	T	18	45999545	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.939136514042277	0.682
18	43579512	T	A	18	45999546	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00174589331687985	0.154
18	43579512	T	C	18	45999546	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00647809636364685	0.056
18	43579512	T	G	18	45999546	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.77120033952679E-4	0.148
18	43585427	T	A	18	46005461	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.05510085959234E-4	0.016
18	43585427	T	C	18	46005461	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.2777345682912E-4	0.004
18	43585427	T	G	18	46005461	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.05001673299118E-5	0.0
18	43585428	G	A	18	46005462	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00288427255460577	0.146
18	43585428	G	C	18	46005462	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.35488064576593E-4	0.054
18	43585428	G	T	18	46005462	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.94819778266726E-4	0.012
18	43585429	A	C	18	46005463	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998172989706428	0.942
18	43585429	A	G	18	46005463	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998381000070943	0.938
18	43585429	A	T	18	46005463	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.99860797018321	0.882
18	43585430	C	A	18	46005464	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999984493604872	0.992
18	43585430	C	G	18	46005464	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999978645531878	0.892
18	43585430	C	T	18	46005464	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999984493604872	1.0
18	43585431	T	A	18	46005465	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999173020175748	0.96
18	43585431	T	C	18	46005465	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999197392937135	0.97
18	43585431	T	G	18	46005465	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998526401825353	0.958
18	43585432	C	A	18	46005466	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.991182106647052	0.636
18	43585432	C	G	18	46005466	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.986039401681922	0.606
18	43585432	C	T	18	46005466	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.79709274769176E-5	0.01
18	43585433	A	C	18	46005467	y	y	splicing	PSTPIP2(NM_024430:exon7:c.417+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.417+2T>G;ENST00000589328:exon7:c.417+2T>G)	.	.	0.999988247793601	0.928
18	43585433	A	G	18	46005467	y	y	splicing	PSTPIP2(NM_024430:exon7:c.417+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.417+2T>C;ENST00000589328:exon7:c.417+2T>C)	.	.	0.999929727175276	0.862
18	43585433	A	T	18	46005467	y	y	splicing	PSTPIP2(NM_024430:exon7:c.417+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.417+2T>A;ENST00000589328:exon7:c.417+2T>A)	.	.	0.999988247793601	0.928
18	43585434	C	A	18	46005468	y	y	splicing	PSTPIP2(NM_024430:exon7:c.417+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.417+1G>T;ENST00000589328:exon7:c.417+1G>T)	.	.	0.999990361384395	0.938
18	43585434	C	G	18	46005468	y	y	splicing	PSTPIP2(NM_024430:exon7:c.417+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.417+1G>C;ENST00000589328:exon7:c.417+1G>C)	.	.	0.999990361384395	0.938
18	43585434	C	T	18	46005468	y	y	splicing	PSTPIP2(NM_024430:exon7:c.417+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.417+1G>A;ENST00000589328:exon7:c.417+1G>A)	.	.	0.999990361384395	0.938
18	43585435	A	C	18	46005469	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.T417G:p.D139E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.T417G:p.D139E;ENSG00000152229:ENST00000589328:exon6:c.T417G:p.D139E;	9.40533082957744E-5	0.026
18	43585435	A	G	18	46005469	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon6:c.T417C:p.D139D;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.T417C:p.D139D;ENSG00000152229:ENST00000589328:exon6:c.T417C:p.D139D;	4.9653989668106E-5	0.11
18	43585435	A	T	18	46005469	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.T417A:p.D139E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.T417A:p.D139E;ENSG00000152229:ENST00000589328:exon6:c.T417A:p.D139E;	1.80387830952521E-5	0.0
18	43585436	T	A	18	46005470	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.A416T:p.D139V;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.A416T:p.D139V;ENSG00000152229:ENST00000589328:exon6:c.A416T:p.D139V;	0.999741378726642	0.988
18	43585436	T	C	18	46005470	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.A416G:p.D139G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.A416G:p.D139G;ENSG00000152229:ENST00000589328:exon6:c.A416G:p.D139G;	0.99985388084512	0.996
18	43585436	T	G	18	46005470	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.A416C:p.D139A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.A416C:p.D139A;ENSG00000152229:ENST00000589328:exon6:c.A416C:p.D139A;	0.999586501167902	0.968
18	43585437	C	A	18	46005471	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.G415T:p.D139Y;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.G415T:p.D139Y;ENSG00000152229:ENST00000589328:exon6:c.G415T:p.D139Y;	0.995668483907625	0.752
18	43585437	C	G	18	46005471	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.G415C:p.D139H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.G415C:p.D139H;ENSG00000152229:ENST00000589328:exon6:c.G415C:p.D139H;	0.957909675724262	0.79
18	43585437	C	T	18	46005471	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.G415A:p.D139N;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.G415A:p.D139N;ENSG00000152229:ENST00000589328:exon6:c.G415A:p.D139N;	0.960139520581349	0.792
18	43585496	G	A	18	46005530	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.C356T:p.T119I;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.C356T:p.T119I;ENSG00000152229:ENST00000589328:exon6:c.C356T:p.T119I;	4.92566790118989E-4	0.052
18	43585496	G	C	18	46005530	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.C356G:p.T119R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.C356G:p.T119R;ENSG00000152229:ENST00000589328:exon6:c.C356G:p.T119R;	0.00574082209292251	0.064
18	43585496	G	T	18	46005530	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.C356A:p.T119K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.C356A:p.T119K;ENSG00000152229:ENST00000589328:exon6:c.C356A:p.T119K;	0.0120180177936902	0.07
18	43585497	T	A	18	46005531	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.A355T:p.T119S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.A355T:p.T119S;ENSG00000152229:ENST00000589328:exon6:c.A355T:p.T119S;	0.0224901720873019	0.144
18	43585497	T	C	18	46005531	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.A355G:p.T119A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.A355G:p.T119A;ENSG00000152229:ENST00000589328:exon6:c.A355G:p.T119A;	5.9589002570103E-4	0.018
18	43585497	T	G	18	46005531	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon6:c.A355C:p.T119P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon6:c.A355C:p.T119P;ENSG00000152229:ENST00000589328:exon6:c.A355C:p.T119P;	0.00748214893910241	0.106
18	43585498	C	A	18	46005532	y	y	splicing	PSTPIP2(NM_024430:exon7:c.355-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.355-1G>T;ENST00000589328:exon7:c.355-1G>T)	.	.	0.999956786857988	0.936
18	43585498	C	G	18	46005532	y	y	splicing	PSTPIP2(NM_024430:exon7:c.355-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.355-1G>C;ENST00000589328:exon7:c.355-1G>C)	.	.	0.999955279531929	0.922
18	43585498	C	T	18	46005532	y	y	splicing	PSTPIP2(NM_024430:exon7:c.355-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.355-1G>A;ENST00000589328:exon7:c.355-1G>A)	.	.	0.999956786857988	0.938
18	43585499	T	A	18	46005533	y	y	splicing	PSTPIP2(NM_024430:exon7:c.355-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.355-2A>T;ENST00000589328:exon7:c.355-2A>T)	.	.	0.999963671976247	0.914
18	43585499	T	C	18	46005533	y	y	splicing	PSTPIP2(NM_024430:exon7:c.355-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.355-2A>G;ENST00000589328:exon7:c.355-2A>G)	.	.	0.999971317418422	0.892
18	43585499	T	G	18	46005533	y	y	splicing	PSTPIP2(NM_024430:exon7:c.355-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon7:c.355-2A>C;ENST00000589328:exon7:c.355-2A>C)	.	.	0.999971317418422	0.892
18	43585500	G	A	18	46005534	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00186667173038616	0.098
18	43585500	G	C	18	46005534	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999406754516507	0.916
18	43585500	G	T	18	46005534	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.940489468697368	0.654
18	43585501	T	A	18	46005535	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.18408236357007E-4	0.004
18	43585501	T	C	18	46005535	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.12689641321718E-4	0.004
18	43585501	T	G	18	46005535	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.30234311268418E-5	0.002
18	43585502	A	C	18	46005536	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0236074149245323	0.23
18	43585502	A	G	18	46005536	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.00435929188045E-4	0.002
18	43585502	A	T	18	46005536	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.158414185336523	0.272
18	43585503	A	C	18	46005537	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00238119603909946	0.126
18	43585503	A	G	18	46005537	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.03998218170742E-5	0.002
18	43585503	A	T	18	46005537	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0021452814675613	0.08
18	43585504	A	C	18	46005538	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.410651851548445	0.386
18	43585504	A	G	18	46005538	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.65704674086193E-4	0.034
18	43585504	A	T	18	46005538	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.417086904272112	0.47
18	43585505	G	A	18	46005539	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.13029667981823E-5	0.02
18	43585505	G	C	18	46005539	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.65236097145035E-4	0.086
18	43585505	G	T	18	46005539	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00184600146185221	0.134
18	43585506	A	C	18	46005540	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.550185607399024	0.526
18	43585506	A	G	18	46005540	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.81660010481747E-4	0.042
18	43585506	A	T	18	46005540	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.522834901147131	0.482
18	43585507	G	A	18	46005541	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.38712434931346E-5	0.004
18	43585507	G	C	18	46005541	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.40854613744156E-4	0.054
18	43585507	G	T	18	46005541	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.93233686919589E-4	0.104
18	43585508	A	C	18	46005542	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999900235622508	0.966
18	43585508	A	G	18	46005542	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.117840593433838	0.324
18	43585508	A	T	18	46005542	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.774803187447738	0.51
18	43585509	T	A	18	46005543	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.54708985862287E-5	0.0
18	43585509	T	C	18	46005543	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.90556481020161E-5	0.004
18	43585509	T	G	18	46005543	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.02739642619877E-6	0.0
18	43591139	A	C	18	46011173	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00186705313790112	0.072
18	43591139	A	G	18	46011173	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0015076323413217	0.094
18	43591139	A	T	18	46011173	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.1769680942529E-5	0.024
18	43591140	A	C	18	46011174	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.795014993286E-4	0.002
18	43591140	A	G	18	46011174	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.59835452974458E-4	0.0
18	43591140	A	T	18	46011174	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.61703011502877E-4	0.024
18	43591141	T	A	18	46011175	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.76383696379716E-4	0.084
18	43591141	T	C	18	46011175	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.16024725781017E-4	0.266
18	43591141	T	G	18	46011175	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.98094999215253E-4	0.09
18	43591142	C	A	18	46011176	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999972255323498	0.966
18	43591142	C	G	18	46011176	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999972255323498	0.998
18	43591142	C	T	18	46011176	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999956085582305	0.986
18	43591143	C	A	18	46011177	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0355469808019449	0.15
18	43591143	C	G	18	46011177	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0244561244641372	0.212
18	43591143	C	T	18	46011177	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00157379504410457	0.064
18	43591144	A	C	18	46011178	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.04361733681672E-4	0.174
18	43591144	A	G	18	46011178	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00207534180260543	0.35
18	43591144	A	T	18	46011178	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00185204677589178	0.166
18	43591145	A	C	18	46011179	y	y	splicing	PSTPIP2(NM_024430:exon6:c.354+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.354+2T>G;ENST00000589328:exon6:c.354+2T>G)	.	.	0.999993519952936	0.944
18	43591145	A	G	18	46011179	y	y	splicing	PSTPIP2(NM_024430:exon6:c.354+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.354+2T>C;ENST00000589328:exon6:c.354+2T>C)	.	.	0.999935627936562	0.898
18	43591145	A	T	18	46011179	y	y	splicing	PSTPIP2(NM_024430:exon6:c.354+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.354+2T>A;ENST00000589328:exon6:c.354+2T>A)	.	.	0.999993519952936	0.944
18	43591146	C	A	18	46011180	y	y	splicing	PSTPIP2(NM_024430:exon6:c.354+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.354+1G>T;ENST00000589328:exon6:c.354+1G>T)	.	.	0.999988247793601	0.942
18	43591146	C	G	18	46011180	y	y	splicing	PSTPIP2(NM_024430:exon6:c.354+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.354+1G>C;ENST00000589328:exon6:c.354+1G>C)	.	.	0.999988247793601	0.942
18	43591146	C	T	18	46011180	y	y	splicing	PSTPIP2(NM_024430:exon6:c.354+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.354+1G>A;ENST00000589328:exon6:c.354+1G>A)	.	.	0.999988247793601	0.942
18	43591147	C	A	18	46011181	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.G354T:p.K118N;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.G354T:p.K118N;ENSG00000152229:ENST00000589328:exon5:c.G354T:p.K118N;	0.999990847030859	0.998
18	43591147	C	G	18	46011181	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.G354C:p.K118N;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.G354C:p.K118N;ENSG00000152229:ENST00000589328:exon5:c.G354C:p.K118N;	0.999998106073408	1.0
18	43591147	C	T	18	46011181	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon5:c.G354A:p.K118K;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.G354A:p.K118K;ENSG00000152229:ENST00000589328:exon5:c.G354A:p.K118K;	0.999980623463998	0.998
18	43591148	T	A	18	46011182	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A353T:p.K118M;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A353T:p.K118M;ENSG00000152229:ENST00000589328:exon5:c.A353T:p.K118M;	0.999963239560628	0.998
18	43591148	T	C	18	46011182	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A353G:p.K118R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A353G:p.K118R;ENSG00000152229:ENST00000589328:exon5:c.A353G:p.K118R;	0.999965600122128	1.0
18	43591148	T	G	18	46011182	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A353C:p.K118T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A353C:p.K118T;ENSG00000152229:ENST00000589328:exon5:c.A353C:p.K118T;	0.999858288655344	1.0
18	43591149	T	A	18	46011183	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon5:c.A352T:p.K118X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon5:c.A352T:p.K118X;ENSG00000152229:ENST00000589328:exon5:c.A352T:p.K118X;	0.998627810940742	0.856
18	43591149	T	C	18	46011183	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A352G:p.K118E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A352G:p.K118E;ENSG00000152229:ENST00000589328:exon5:c.A352G:p.K118E;	0.575570820259041	0.482
18	43591149	T	G	18	46011183	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A352C:p.K118Q;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A352C:p.K118Q;ENSG00000152229:ENST00000589328:exon5:c.A352C:p.K118Q;	0.732349325110837	0.75
18	43591252	T	A	18	46011286	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A249T:p.Q83H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A249T:p.Q83H;ENSG00000152229:ENST00000589328:exon5:c.A249T:p.Q83H;	8.67210807704321E-5	0.148
18	43591252	T	C	18	46011286	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon5:c.A249G:p.Q83Q;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A249G:p.Q83Q;ENSG00000152229:ENST00000589328:exon5:c.A249G:p.Q83Q;	7.31328268939415E-5	0.012
18	43591252	T	G	18	46011286	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A249C:p.Q83H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A249C:p.Q83H;ENSG00000152229:ENST00000589328:exon5:c.A249C:p.Q83H;	2.22669376736385E-4	0.098
18	43591253	T	A	18	46011287	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A248T:p.Q83L;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A248T:p.Q83L;ENSG00000152229:ENST00000589328:exon5:c.A248T:p.Q83L;	0.147647064525792	0.522
18	43591253	T	C	18	46011287	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A248G:p.Q83R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A248G:p.Q83R;ENSG00000152229:ENST00000589328:exon5:c.A248G:p.Q83R;	0.455957882038117	0.652
18	43591253	T	G	18	46011287	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon5:c.A248C:p.Q83P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon5:c.A248C:p.Q83P;ENSG00000152229:ENST00000589328:exon5:c.A248C:p.Q83P;	0.0965383845326588	0.5
18	43591254	C	A	18	46011288	y	y	splicing	PSTPIP2(NM_024430:exon6:c.248-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.248-1G>T;ENST00000589328:exon6:c.248-1G>T)	.	.	0.999978952611685	0.934
18	43591254	C	G	18	46011288	y	y	splicing	PSTPIP2(NM_024430:exon6:c.248-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.248-1G>C;ENST00000589328:exon6:c.248-1G>C)	.	.	0.999978952611685	0.934
18	43591254	C	T	18	46011288	y	y	splicing	PSTPIP2(NM_024430:exon6:c.248-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.248-1G>A;ENST00000589328:exon6:c.248-1G>A)	.	.	0.999988247793601	0.932
18	43591255	T	A	18	46011289	y	y	splicing	PSTPIP2(NM_024430:exon6:c.248-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.248-2A>T;ENST00000589328:exon6:c.248-2A>T)	.	.	0.999991582404039	0.926
18	43591255	T	C	18	46011289	y	y	splicing	PSTPIP2(NM_024430:exon6:c.248-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.248-2A>G;ENST00000589328:exon6:c.248-2A>G)	.	.	0.999978278263889	0.926
18	43591255	T	G	18	46011289	y	y	splicing	PSTPIP2(NM_024430:exon6:c.248-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon6:c.248-2A>C;ENST00000589328:exon6:c.248-2A>C)	.	.	0.999978278263889	0.926
18	43591256	G	A	18	46011290	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0341216224389809	0.422
18	43591256	G	C	18	46011290	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999644262232956	0.946
18	43591256	G	T	18	46011290	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.985968494034437	0.62
18	43591257	C	A	18	46011291	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.20010865001753E-5	0.0
18	43591257	C	G	18	46011291	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.90982113426822E-5	0.006
18	43591257	C	T	18	46011291	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.20010865001753E-5	0.004
18	43591258	A	C	18	46011292	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0882809920908071	0.462
18	43591258	A	G	18	46011292	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00843054092671547	0.092
18	43591258	A	T	18	46011292	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999852123326827	0.922
18	43591259	A	C	18	46011293	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.78773755529536E-4	0.102
18	43591259	A	G	18	46011293	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.10772259427019E-5	0.006
18	43591259	A	T	18	46011293	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.45722530602165E-4	0.118
18	43591260	A	C	18	46011294	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.346141367791E-4	0.064
18	43591260	A	G	18	46011294	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.18762183383715E-4	0.004
18	43591260	A	T	18	46011294	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.5212503218312E-4	0.068
18	43591261	A	C	18	46011295	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.9611403731347E-4	0.044
18	43591261	A	G	18	46011295	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.67774261538815E-5	0.014
18	43591261	A	T	18	46011295	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.83827452547485E-4	0.078
18	43591262	A	C	18	46011296	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.47753527923155E-4	0.048
18	43591262	A	G	18	46011296	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.07849203452592E-5	0.0
18	43591262	A	T	18	46011296	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.21501667424593E-4	0.04
18	43591263	A	C	18	46011297	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.55986500900266E-4	0.052
18	43591263	A	G	18	46011297	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.83312685185905E-5	0.004
18	43591263	A	T	18	46011297	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.26306548952275E-4	0.042
18	43591264	G	A	18	46011298	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.8818964184113E-6	0.004
18	43591264	G	C	18	46011298	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.40609987573361E-5	0.004
18	43591264	G	T	18	46011298	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.27769035542296E-5	0.014
18	43591265	A	C	18	46011299	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0018424616545747	0.136
18	43591265	A	G	18	46011299	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.26424156645876E-4	0.006
18	43591265	A	T	18	46011299	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.94128806377863E-4	0.152
18	43595861	T	A	18	46015895	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.86051352264549E-4	0.006
18	43595861	T	C	18	46015895	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.36336488443859E-4	0.006
18	43595861	T	G	18	46015895	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.02369462491696E-4	0.01
18	43595862	C	A	18	46015896	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.72005418453117E-5	0.0
18	43595862	C	G	18	46015896	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.10173801878394E-5	0.0
18	43595862	C	T	18	46015896	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.90519961471886E-5	0.0
18	43595863	A	C	18	46015897	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.903056541724712	0.632
18	43595863	A	G	18	46015897	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.958011263564698	0.642
18	43595863	A	T	18	46015897	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.786687712859819	0.484
18	43595864	C	A	18	46015898	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999970611956162	0.98
18	43595864	C	G	18	46015898	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999995898226752	0.972
18	43595864	C	T	18	46015898	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999973255794043	0.984
18	43595865	T	A	18	46015899	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.992591562150329	0.81
18	43595865	T	C	18	46015899	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.986976633074126	0.848
18	43595865	T	G	18	46015899	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.968054282251152	0.53
18	43595866	T	A	18	46015900	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999732433046752	0.852
18	43595866	T	C	18	46015900	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00603582490228598	0.088
18	43595866	T	G	18	46015900	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.997931749039692	0.886
18	43595867	A	C	18	46015901	y	y	splicing	PSTPIP2(NM_024430:exon5:c.247+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.247+2T>G;ENST00000589328:exon5:c.247+2T>G)	.	.	0.999978278263889	0.938
18	43595867	A	G	18	46015901	y	y	splicing	PSTPIP2(NM_024430:exon5:c.247+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.247+2T>C;ENST00000589328:exon5:c.247+2T>C)	.	.	0.98947773341259	0.622
18	43595867	A	T	18	46015901	y	y	splicing	PSTPIP2(NM_024430:exon5:c.247+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.247+2T>A;ENST00000589328:exon5:c.247+2T>A)	.	.	0.999978278263889	0.922
18	43595868	C	A	18	46015902	y	y	splicing	PSTPIP2(NM_024430:exon5:c.247+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.247+1G>T;ENST00000589328:exon5:c.247+1G>T)	.	.	0.99996509239462	0.924
18	43595868	C	G	18	46015902	y	y	splicing	PSTPIP2(NM_024430:exon5:c.247+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.247+1G>C;ENST00000589328:exon5:c.247+1G>C)	.	.	0.99996509239462	0.928
18	43595868	C	T	18	46015902	y	y	splicing	PSTPIP2(NM_024430:exon5:c.247+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.247+1G>A;ENST00000589328:exon5:c.247+1G>A)	.	.	0.99996509239462	0.922
18	43595869	G	A	18	46015903	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon4:c.C247T:p.Q83X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon4:c.C247T:p.Q83X;ENSG00000152229:ENST00000589328:exon4:c.C247T:p.Q83X;	0.974542814322381	0.65
18	43595869	G	C	18	46015903	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.C247G:p.Q83E;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.C247G:p.Q83E;ENSG00000152229:ENST00000589328:exon4:c.C247G:p.Q83E;	0.516268052050114	0.336
18	43595869	G	T	18	46015903	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.C247A:p.Q83K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.C247A:p.Q83K;ENSG00000152229:ENST00000589328:exon4:c.C247A:p.Q83K;	0.921766683742075	0.652
18	43595870	C	A	18	46015904	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.G246T:p.Q82H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.G246T:p.Q82H;ENSG00000152229:ENST00000589328:exon4:c.G246T:p.Q82H;	6.60978227325903E-4	0.072
18	43595870	C	G	18	46015904	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.G246C:p.Q82H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.G246C:p.Q82H;ENSG00000152229:ENST00000589328:exon4:c.G246C:p.Q82H;	3.20757807007878E-4	0.008
18	43595870	C	T	18	46015904	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon4:c.G246A:p.Q82Q;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.G246A:p.Q82Q;ENSG00000152229:ENST00000589328:exon4:c.G246A:p.Q82Q;	4.30831739401763E-4	0.092
18	43595871	T	A	18	46015905	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.A245T:p.Q82L;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.A245T:p.Q82L;ENSG00000152229:ENST00000589328:exon4:c.A245T:p.Q82L;	0.0554094269782156	0.142
18	43595871	T	C	18	46015905	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.A245G:p.Q82R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.A245G:p.Q82R;ENSG00000152229:ENST00000589328:exon4:c.A245G:p.Q82R;	0.00637952346848045	0.04
18	43595871	T	G	18	46015905	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.A245C:p.Q82P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.A245C:p.Q82P;ENSG00000152229:ENST00000589328:exon4:c.A245C:p.Q82P;	0.00345331330503577	0.042
18	43595902	T	A	18	46015936	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.A214T:p.T72S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.A214T:p.T72S;ENSG00000152229:ENST00000589328:exon4:c.A214T:p.T72S;	0.594000120923155	0.684
18	43595902	T	C	18	46015936	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.A214G:p.T72A;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.A214G:p.T72A;ENSG00000152229:ENST00000589328:exon4:c.A214G:p.T72A;	0.71939414282581	0.498
18	43595902	T	G	18	46015936	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.A214C:p.T72P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.A214C:p.T72P;ENSG00000152229:ENST00000589328:exon4:c.A214C:p.T72P;	0.801142178619482	0.5
18	43595903	G	A	18	46015937	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon4:c.C213T:p.N71N;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.C213T:p.N71N;ENSG00000152229:ENST00000589328:exon4:c.C213T:p.N71N;	0.00137334805147209	0.062
18	43595903	G	C	18	46015937	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.C213G:p.N71K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.C213G:p.N71K;ENSG00000152229:ENST00000589328:exon4:c.C213G:p.N71K;	1.5986867685867E-4	0.198
18	43595903	G	T	18	46015937	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon4:c.C213A:p.N71K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon4:c.C213A:p.N71K;ENSG00000152229:ENST00000589328:exon4:c.C213A:p.N71K;	8.53323250381316E-5	0.104
18	43595904	C	A	18	46015938	y	y	splicing	PSTPIP2(NM_024430:exon5:c.213-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.213-1G>T;ENST00000589328:exon5:c.213-1G>T)	.	.	0.999992446697775	0.918
18	43595904	C	G	18	46015938	y	y	splicing	PSTPIP2(NM_024430:exon5:c.213-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.213-1G>C;ENST00000589328:exon5:c.213-1G>C)	.	.	0.999992446697775	0.924
18	43595904	C	T	18	46015938	y	y	splicing	PSTPIP2(NM_024430:exon5:c.213-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.213-1G>A;ENST00000589328:exon5:c.213-1G>A)	.	.	0.999992446697775	0.926
18	43595905	T	A	18	46015939	y	y	splicing	PSTPIP2(NM_024430:exon5:c.213-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.213-2A>T;ENST00000589328:exon5:c.213-2A>T)	.	.	0.999993519952936	0.926
18	43595905	T	C	18	46015939	y	y	splicing	PSTPIP2(NM_024430:exon5:c.213-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.213-2A>G;ENST00000589328:exon5:c.213-2A>G)	.	.	0.999993519952936	0.926
18	43595905	T	G	18	46015939	y	y	splicing	PSTPIP2(NM_024430:exon5:c.213-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon5:c.213-2A>C;ENST00000589328:exon5:c.213-2A>C)	.	.	0.999993519952936	0.926
18	43595906	A	C	18	46015940	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.991687672351075	0.662
18	43595906	A	G	18	46015940	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.97572331070598E-5	0.022
18	43595906	A	T	18	46015940	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.22266267318677E-4	0.112
18	43595907	A	C	18	46015941	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.19434432084792E-4	0.014
18	43595907	A	G	18	46015941	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.13216973725181E-4	0.012
18	43595907	A	T	18	46015941	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.22902456905413E-4	0.01
18	43595908	A	C	18	46015942	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0225591395920105	0.28
18	43595908	A	G	18	46015942	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.55120416579132E-4	0.068
18	43595908	A	T	18	46015942	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00217195476573687	0.234
18	43595909	A	C	18	46015943	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0274359714101845	0.182
18	43595909	A	G	18	46015943	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.25023055810968E-4	0.004
18	43595909	A	T	18	46015943	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0193714742422488	0.104
18	43595910	A	C	18	46015944	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.15349828575382E-4	0.148
18	43595910	A	G	18	46015944	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.85984500258784E-5	0.006
18	43595910	A	T	18	46015944	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0010464033018331	0.088
18	43595911	A	C	18	46015945	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00231551185603782	0.142
18	43595911	A	G	18	46015945	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00124144686946217	0.05
18	43595911	A	T	18	46015945	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00595737718417135	0.18
18	43595912	A	C	18	46015946	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.74719271308551E-4	0.102
18	43595912	A	G	18	46015946	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.32445322145843E-5	0.002
18	43595912	A	T	18	46015946	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.0782206168261E-4	0.06
18	43595913	A	C	18	46015947	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0026240960255594	0.166
18	43595913	A	G	18	46015947	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.58695079466943E-4	0.02
18	43595913	A	T	18	46015947	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0153249892245321	0.176
18	43595914	C	A	18	46015948	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.97646717437266E-5	0.11
18	43595914	C	G	18	46015948	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.35544056756364E-5	0.002
18	43595914	C	T	18	46015948	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.21794118187504E-4	0.008
18	43595915	A	C	18	46015949	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00334693819993033	0.202
18	43595915	A	G	18	46015949	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.14591578649065E-4	0.016
18	43595915	A	T	18	46015949	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999685160750476	0.95
18	43604567	A	C	18	46024601	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.90911220551377E-4	0.0
18	43604567	A	G	18	46024601	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.55786609480746E-5	0.0
18	43604567	A	T	18	46024601	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	8.64953875719031E-5	0.0
18	43604568	T	A	18	46024602	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.26869536586252E-4	0.002
18	43604568	T	C	18	46024602	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.63599189950674E-4	0.0
18	43604568	T	G	18	46024602	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.95815540499835E-5	0.0
18	43604569	A	C	18	46024603	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.640881112320031	0.606
18	43604569	A	G	18	46024603	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.744170105093692	0.614
18	43604569	A	T	18	46024603	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.957825393044888	0.61
18	43604570	C	A	18	46024604	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999984019116122	0.874
18	43604570	C	G	18	46024604	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999984019116122	0.908
18	43604570	C	T	18	46024604	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999980551083201	0.86
18	43604571	A	C	18	46024605	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.27577832583213E-4	0.074
18	43604571	A	G	18	46024605	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.5482441172586E-5	0.0
18	43604571	A	T	18	46024605	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.26759106681422E-5	0.032
18	43604572	T	A	18	46024606	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999802662092779	0.946
18	43604572	T	C	18	46024606	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.995407239517096	0.744
18	43604572	T	G	18	46024606	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999827506365534	0.944
18	43604573	A	C	18	46024607	y	y	splicing	PSTPIP2(NM_024430:exon4:c.212+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.212+2T>G;ENST00000589328:exon4:c.212+2T>G)	.	.	0.999971317418422	0.896
18	43604573	A	G	18	46024607	y	y	splicing	PSTPIP2(NM_024430:exon4:c.212+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.212+2T>C;ENST00000589328:exon4:c.212+2T>C)	.	.	0.967788928859094	0.638
18	43604573	A	T	18	46024607	y	y	splicing	PSTPIP2(NM_024430:exon4:c.212+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.212+2T>A;ENST00000589328:exon4:c.212+2T>A)	.	.	0.999971317418422	0.898
18	43604574	C	A	18	46024608	y	y	splicing	PSTPIP2(NM_024430:exon4:c.212+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.212+1G>T;ENST00000589328:exon4:c.212+1G>T)	.	.	0.999976475802857	0.906
18	43604574	C	G	18	46024608	y	y	splicing	PSTPIP2(NM_024430:exon4:c.212+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.212+1G>C;ENST00000589328:exon4:c.212+1G>C)	.	.	0.999976475802857	0.91
18	43604574	C	T	18	46024608	y	y	splicing	PSTPIP2(NM_024430:exon4:c.212+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.212+1G>A;ENST00000589328:exon4:c.212+1G>A)	.	.	0.999970205305079	0.924
18	43604575	T	A	18	46024609	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.A212T:p.N71I;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.A212T:p.N71I;ENSG00000152229:ENST00000589328:exon3:c.A212T:p.N71I;	0.9055590682084	0.568
18	43604575	T	C	18	46024609	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.A212G:p.N71S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.A212G:p.N71S;ENSG00000152229:ENST00000589328:exon3:c.A212G:p.N71S;	4.74518630531169E-4	0.05
18	43604575	T	G	18	46024609	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.A212C:p.N71T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.A212C:p.N71T;ENSG00000152229:ENST00000589328:exon3:c.A212C:p.N71T;	0.0221151275124822	0.128
18	43604576	T	A	18	46024610	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.A211T:p.N71Y;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.A211T:p.N71Y;ENSG00000152229:ENST00000589328:exon3:c.A211T:p.N71Y;	0.998652459415714	0.932
18	43604576	T	C	18	46024610	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.A211G:p.N71D;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.A211G:p.N71D;ENSG00000152229:ENST00000589328:exon3:c.A211G:p.N71D;	0.801773641442387	0.694
18	43604576	T	G	18	46024610	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.A211C:p.N71H;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.A211C:p.N71H;ENSG00000152229:ENST00000589328:exon3:c.A211C:p.N71H;	0.760490602997131	0.62
18	43604577	G	A	18	46024611	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon3:c.C210T:p.I70I;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.C210T:p.I70I;ENSG00000152229:ENST00000589328:exon3:c.C210T:p.I70I;	0.735285643730583	0.562
18	43604577	G	C	18	46024611	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.C210G:p.I70M;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.C210G:p.I70M;ENSG00000152229:ENST00000589328:exon3:c.C210G:p.I70M;	6.78832332507485E-4	0.072
18	43604577	G	T	18	46024611	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon3:c.C210A:p.I70I;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.C210A:p.I70I;ENSG00000152229:ENST00000589328:exon3:c.C210A:p.I70I;	5.51589788097066E-4	0.098
18	43604651	C	A	18	46024685	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.G136T:p.A46S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.G136T:p.A46S;ENSG00000152229:ENST00000589328:exon3:c.G136T:p.A46S;	0.976285951047782	0.91
18	43604651	C	G	18	46024685	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.G136C:p.A46P;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.G136C:p.A46P;ENSG00000152229:ENST00000589328:exon3:c.G136C:p.A46P;	0.97916501068419	0.888
18	43604651	C	T	18	46024685	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.G136A:p.A46T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.G136A:p.A46T;ENSG00000152229:ENST00000589328:exon3:c.G136A:p.A46T;	0.989586793473244	0.88
18	43604652	C	A	18	46024686	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.G135T:p.R45S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.G135T:p.R45S;ENSG00000152229:ENST00000589328:exon3:c.G135T:p.R45S;	0.546801621187706	0.636
18	43604652	C	G	18	46024686	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon3:c.G135C:p.R45S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.G135C:p.R45S;ENSG00000152229:ENST00000589328:exon3:c.G135C:p.R45S;	0.0946579158734301	0.59
18	43604652	C	T	18	46024686	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon3:c.G135A:p.R45R;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon3:c.G135A:p.R45R;ENSG00000152229:ENST00000589328:exon3:c.G135A:p.R45R;	0.00608066203275418	0.168
18	43604653	C	A	18	46024687	y	y	splicing	PSTPIP2(NM_024430:exon4:c.135-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.135-1G>T;ENST00000589328:exon4:c.135-1G>T)	.	.	0.999990361384395	0.938
18	43604653	C	G	18	46024687	y	y	splicing	PSTPIP2(NM_024430:exon4:c.135-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.135-1G>C;ENST00000589328:exon4:c.135-1G>C)	.	.	0.999990361384395	0.938
18	43604653	C	T	18	46024687	y	y	splicing	PSTPIP2(NM_024430:exon4:c.135-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.135-1G>A;ENST00000589328:exon4:c.135-1G>A)	.	.	0.999990361384395	0.938
18	43604654	T	A	18	46024688	y	y	splicing	PSTPIP2(NM_024430:exon4:c.135-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.135-2A>T;ENST00000589328:exon4:c.135-2A>T)	.	.	0.999988247793601	0.93
18	43604654	T	C	18	46024688	y	y	splicing	PSTPIP2(NM_024430:exon4:c.135-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.135-2A>G;ENST00000589328:exon4:c.135-2A>G)	.	.	0.999988247793601	0.93
18	43604654	T	G	18	46024688	y	y	splicing	PSTPIP2(NM_024430:exon4:c.135-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon4:c.135-2A>C;ENST00000589328:exon4:c.135-2A>C)	.	.	0.999988247793601	0.93
18	43604655	A	C	18	46024689	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.752375438578817	0.584
18	43604655	A	G	18	46024689	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.50945129863788E-5	0.002
18	43604655	A	T	18	46024689	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00204082345944731	0.078
18	43604656	G	A	18	46024690	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.42319643877571E-5	0.002
18	43604656	G	C	18	46024690	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.55064133210166E-5	0.0
18	43604656	G	T	18	46024690	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.42319643877571E-5	0.0
18	43604657	G	A	18	46024691	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.70330889080905E-5	0.032
18	43604657	G	C	18	46024691	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00153598896314215	0.134
18	43604657	G	T	18	46024691	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.9891182651844E-4	0.058
18	43604658	G	A	18	46024692	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.39495051582717E-5	0.018
18	43604658	G	C	18	46024692	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00129769574626204	0.17
18	43604658	G	T	18	46024692	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00113655055635375	0.14
18	43604659	G	A	18	46024693	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.06054309173407E-4	0.008
18	43604659	G	C	18	46024693	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.31683226786282E-4	0.104
18	43604659	G	T	18	46024693	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00274814837146285	0.15
18	43604660	A	C	18	46024694	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.45136205726041E-5	0.026
18	43604660	A	G	18	46024694	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.48998441651518E-5	0.004
18	43604660	A	T	18	46024694	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.1358493545245E-5	0.026
18	43604661	A	C	18	46024695	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00477511894031171	0.194
18	43604661	A	G	18	46024695	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00431546993563337	0.068
18	43604661	A	T	18	46024695	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00318846224143893	0.202
18	43604662	C	A	18	46024696	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.03725993611828E-5	0.0
18	43604662	C	G	18	46024696	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.81292047330887E-5	0.0
18	43604662	C	T	18	46024696	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.74943220264446E-4	0.006
18	43604663	A	C	18	46024697	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0169030859599746	0.394
18	43604663	A	G	18	46024697	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00922039491753836	0.152
18	43604663	A	T	18	46024697	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999451315372559	0.862
18	43604664	G	A	18	46024698	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.882011551701655	0.676
18	43604664	G	C	18	46024698	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.950084204301185	0.65
18	43604664	G	T	18	46024698	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.960789854263349	0.644
18	43619905	C	A	18	46039939	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.01174165683835E-5	0.0
18	43619905	C	G	18	46039939	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.01174165683835E-5	0.002
18	43619905	C	T	18	46039939	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.01174165683835E-5	0.0
18	43619906	A	C	18	46039940	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.07014835428848E-5	0.0
18	43619906	A	G	18	46039940	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.42863973527116E-5	0.0
18	43619906	A	T	18	46039940	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.42863973527116E-5	0.0
18	43619907	T	A	18	46039941	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.14260699407836E-5	0.018
18	43619907	T	C	18	46039941	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.92174726111695E-6	0.008
18	43619907	T	G	18	46039941	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.96730423530288E-5	0.026
18	43619908	C	A	18	46039942	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.403449418848981	0.338
18	43619908	C	G	18	46039942	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.246122531879428	0.408
18	43619908	C	T	18	46039942	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.582993922792621	0.376
18	43619909	G	A	18	46039943	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.75254308122779E-5	0.0
18	43619909	G	C	18	46039943	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.93099147350512E-5	0.014
18	43619909	G	T	18	46039943	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.3336017183428E-5	0.018
18	43619910	T	A	18	46039944	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.959120020979345	0.616
18	43619910	T	C	18	46039944	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0345528821700185	0.342
18	43619910	T	G	18	46039944	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.988794126042052	0.746
18	43619911	A	C	18	46039945	y	y	splicing	PSTPIP2(NM_024430:exon3:c.134+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.134+2T>G;ENST00000589328:exon3:c.134+2T>G)	.	.	0.99998382861657	0.85
18	43619911	A	G	18	46039945	y	y	splicing	PSTPIP2(NM_024430:exon3:c.134+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.134+2T>C;ENST00000589328:exon3:c.134+2T>C)	.	.	0.957816868647232	0.534
18	43619911	A	T	18	46039945	y	y	splicing	PSTPIP2(NM_024430:exon3:c.134+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.134+2T>A;ENST00000589328:exon3:c.134+2T>A)	.	.	0.999985353572514	0.868
18	43619912	C	A	18	46039946	y	y	splicing	PSTPIP2(NM_024430:exon3:c.134+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.134+1G>T;ENST00000589328:exon3:c.134+1G>T)	.	.	0.999972155025474	0.86
18	43619912	C	G	18	46039946	y	y	splicing	PSTPIP2(NM_024430:exon3:c.134+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.134+1G>C;ENST00000589328:exon3:c.134+1G>C)	.	.	0.999969255906173	0.866
18	43619912	C	T	18	46039946	y	y	splicing	PSTPIP2(NM_024430:exon3:c.134+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.134+1G>A;ENST00000589328:exon3:c.134+1G>A)	.	.	0.999972871252391	0.886
18	43619913	C	A	18	46039947	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.G134T:p.R45M;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.G134T:p.R45M;ENSG00000152229:ENST00000589328:exon2:c.G134T:p.R45M;	0.999879279843894	0.98
18	43619913	C	G	18	46039947	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.G134C:p.R45T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.G134C:p.R45T;ENSG00000152229:ENST00000589328:exon2:c.G134C:p.R45T;	0.99997872862437	0.97
18	43619913	C	T	18	46039947	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.G134A:p.R45K;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.G134A:p.R45K;ENSG00000152229:ENST00000589328:exon2:c.G134A:p.R45K;	0.999977841815646	0.998
18	43619914	T	A	18	46039948	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.A133T:p.R45W;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A133T:p.R45W;ENSG00000152229:ENST00000589328:exon2:c.A133T:p.R45W;	0.999641288511144	0.974
18	43619914	T	C	18	46039948	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.A133G:p.R45G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A133G:p.R45G;ENSG00000152229:ENST00000589328:exon2:c.A133G:p.R45G;	0.999072204570694	0.962
18	43619914	T	G	18	46039948	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon2:c.A133C:p.R45R;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A133C:p.R45R;ENSG00000152229:ENST00000589328:exon2:c.A133C:p.R45R;	0.415410533039629	0.544
18	43619915	T	A	18	46039949	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.A132T:p.E44D;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A132T:p.E44D;ENSG00000152229:ENST00000589328:exon2:c.A132T:p.E44D;	0.149357892220073	0.492
18	43619915	T	C	18	46039949	y	y	exonic	PSTPIP2	synonymous SNV	PSTPIP2:NM_024430:exon2:c.A132G:p.E44E;	exonic	ENSG00000152229	synonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A132G:p.E44E;ENSG00000152229:ENST00000589328:exon2:c.A132G:p.E44E;	8.3886336765299E-5	0.016
18	43619915	T	G	18	46039949	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.A132C:p.E44D;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A132C:p.E44D;ENSG00000152229:ENST00000589328:exon2:c.A132C:p.E44D;	2.62541235938099E-5	0.01
18	43620012	C	A	18	46040046	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.G35T:p.S12I;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.G35T:p.S12I;ENSG00000152229:ENST00000589328:exon2:c.G35T:p.S12I;	0.0832550305035782	0.28
18	43620012	C	G	18	46040046	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.G35C:p.S12T;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.G35C:p.S12T;ENSG00000152229:ENST00000589328:exon2:c.G35C:p.S12T;	5.08301403559681E-4	0.01
18	43620012	C	T	18	46040046	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.G35A:p.S12N;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.G35A:p.S12N;ENSG00000152229:ENST00000589328:exon2:c.G35A:p.S12N;	0.00152684425899204	0.014
18	43620013	T	A	18	46040047	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.A34T:p.S12C;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A34T:p.S12C;ENSG00000152229:ENST00000589328:exon2:c.A34T:p.S12C;	0.00857297937073938	0.124
18	43620013	T	C	18	46040047	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.A34G:p.S12G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A34G:p.S12G;ENSG00000152229:ENST00000589328:exon2:c.A34G:p.S12G;	5.65726396701908E-4	0.018
18	43620013	T	G	18	46040047	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon2:c.A34C:p.S12R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon2:c.A34C:p.S12R;ENSG00000152229:ENST00000589328:exon2:c.A34C:p.S12R;	0.0204243123420276	0.188
18	43620014	C	A	18	46040048	y	y	splicing	PSTPIP2(NM_024430:exon3:c.34-1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.34-1G>T;ENST00000589328:exon3:c.34-1G>T)	.	.	0.999992446697775	0.934
18	43620014	C	G	18	46040048	y	y	splicing	PSTPIP2(NM_024430:exon3:c.34-1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.34-1G>C;ENST00000589328:exon3:c.34-1G>C)	.	.	0.999992446697775	0.932
18	43620014	C	T	18	46040048	y	y	splicing	PSTPIP2(NM_024430:exon3:c.34-1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.34-1G>A;ENST00000589328:exon3:c.34-1G>A)	.	.	0.999992446697775	0.934
18	43620015	T	A	18	46040049	y	y	splicing	PSTPIP2(NM_024430:exon3:c.34-2A>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.34-2A>T;ENST00000589328:exon3:c.34-2A>T)	.	.	0.999993672935256	0.928
18	43620015	T	C	18	46040049	y	y	splicing	PSTPIP2(NM_024430:exon3:c.34-2A>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.34-2A>G;ENST00000589328:exon3:c.34-2A>G)	.	.	0.999993672935256	0.926
18	43620015	T	G	18	46040049	y	y	splicing	PSTPIP2(NM_024430:exon3:c.34-2A>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon3:c.34-2A>C;ENST00000589328:exon3:c.34-2A>C)	.	.	0.999993672935256	0.926
18	43620016	G	A	18	46040050	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.839402514034816	0.35
18	43620016	G	C	18	46040050	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999896370935531	0.97
18	43620016	G	T	18	46040050	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998782321869638	0.95
18	43620017	G	A	18	46040051	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.58310596084635E-5	0.002
18	43620017	G	C	18	46040051	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.47916643171671E-4	0.002
18	43620017	G	T	18	46040051	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	6.51246923274644E-5	0.002
18	43620018	G	A	18	46040052	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00108788079196647	0.014
18	43620018	G	C	18	46040052	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0138212936285605	0.112
18	43620018	G	T	18	46040052	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00778288922626119	0.112
18	43620019	G	A	18	46040053	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.03036473796662E-4	0.016
18	43620019	G	C	18	46040053	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0117254604250162	0.23
18	43620019	G	T	18	46040053	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0136346623278744	0.116
18	43620020	G	A	18	46040054	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.10052387577984E-5	0.0
18	43620020	G	C	18	46040054	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00110293177164139	0.018
18	43620020	G	T	18	46040054	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00144856794594369	0.058
18	43620021	A	C	18	46040055	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00950877997757683	0.082
18	43620021	A	G	18	46040055	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.4382860657862E-4	0.022
18	43620021	A	T	18	46040055	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00372296273872207	0.128
18	43620022	A	C	18	46040056	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00277502025107159	0.114
18	43620022	A	G	18	46040056	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	2.51800498697731E-4	0.032
18	43620022	A	T	18	46040056	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00297279886023522	0.092
18	43620023	A	C	18	46040057	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0490793120959395	0.2
18	43620023	A	G	18	46040057	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.39659736730435E-4	0.028
18	43620023	A	T	18	46040057	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0166561252132304	0.2
18	43620024	G	A	18	46040058	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.02518994151824E-5	0.002
18	43620024	G	C	18	46040058	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00268544399115458	0.266
18	43620024	G	T	18	46040058	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00197389731704535	0.204
18	43620025	A	C	18	46040059	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0340413462372667	0.272
18	43620025	A	G	18	46040059	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.00181485385907164	0.034
18	43620025	A	T	18	46040059	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0781374712585615	0.284
18	43652114	C	A	18	46072148	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.13586504197794E-5	0.028
18	43652114	C	G	18	46072148	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	3.13586504197794E-5	0.036
18	43652114	C	T	18	46072148	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	4.50708932385623E-5	0.03
18	43652115	G	A	18	46072149	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	1.11912298705487E-4	0.026
18	43652115	G	C	18	46072149	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	9.01350547495435E-5	0.0
18	43652115	G	T	18	46072149	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	7.17475544332205E-5	0.0
18	43652116	A	C	18	46072150	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.0652778491177142	0.308
18	43652116	A	G	18	46072150	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.336659236899043	0.43
18	43652116	A	T	18	46072150	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.382652432864878	0.434
18	43652117	C	A	18	46072151	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.995598130212436	0.83
18	43652117	C	G	18	46072151	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.998356210794878	0.9
18	43652117	C	T	18	46072151	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.999213364928131	0.882
18	43652118	T	A	18	46072152	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.534633421293797	0.35
18	43652118	T	C	18	46072152	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.668034454538542	0.486
18	43652118	T	G	18	46072152	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.162635204929158	0.338
18	43652119	T	A	18	46072153	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.845777389433803	0.5
18	43652119	T	C	18	46072153	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	5.46812712822397E-4	0.016
18	43652119	T	G	18	46072153	y	y	intronic	PSTPIP2	.	.	intronic	ENSG00000152229	.	.	0.774148710101827	0.5
18	43652120	A	C	18	46072154	y	y	splicing	PSTPIP2(NM_024430:exon2:c.33+2T>G)	.	.	splicing	ENSG00000152229(ENST00000409746:exon2:c.33+2T>G;ENST00000589328:exon2:c.33+2T>G)	.	.	0.999992752818502	0.926
18	43652120	A	G	18	46072154	y	y	splicing	PSTPIP2(NM_024430:exon2:c.33+2T>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon2:c.33+2T>C;ENST00000589328:exon2:c.33+2T>C)	.	.	0.986916358531534	0.62
18	43652120	A	T	18	46072154	y	y	splicing	PSTPIP2(NM_024430:exon2:c.33+2T>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon2:c.33+2T>A;ENST00000589328:exon2:c.33+2T>A)	.	.	0.999992752818502	0.926
18	43652121	C	A	18	46072155	y	y	splicing	PSTPIP2(NM_024430:exon2:c.33+1G>T)	.	.	splicing	ENSG00000152229(ENST00000409746:exon2:c.33+1G>T;ENST00000589328:exon2:c.33+1G>T)	.	.	0.999981760802075	0.928
18	43652121	C	G	18	46072155	y	y	splicing	PSTPIP2(NM_024430:exon2:c.33+1G>C)	.	.	splicing	ENSG00000152229(ENST00000409746:exon2:c.33+1G>C;ENST00000589328:exon2:c.33+1G>C)	.	.	0.999981760802075	0.938
18	43652121	C	T	18	46072155	y	y	splicing	PSTPIP2(NM_024430:exon2:c.33+1G>A)	.	.	splicing	ENSG00000152229(ENST00000409746:exon2:c.33+1G>A;ENST00000589328:exon2:c.33+1G>A)	.	.	0.999981760802075	0.938
18	43652122	C	A	18	46072156	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon1:c.G33T:p.W11C;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon1:c.G33T:p.W11C;ENSG00000152229:ENST00000589328:exon1:c.G33T:p.W11C;	0.991527703310467	0.904
18	43652122	C	G	18	46072156	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon1:c.G33C:p.W11C;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon1:c.G33C:p.W11C;ENSG00000152229:ENST00000589328:exon1:c.G33C:p.W11C;	0.996644550096013	0.878
18	43652122	C	T	18	46072156	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon1:c.G33A:p.W11X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon1:c.G33A:p.W11X;ENSG00000152229:ENST00000589328:exon1:c.G33A:p.W11X;	0.9970793500165	0.89
18	43652123	C	A	18	46072157	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon1:c.G32T:p.W11L;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon1:c.G32T:p.W11L;ENSG00000152229:ENST00000589328:exon1:c.G32T:p.W11L;	0.968630337842787	0.662
18	43652123	C	G	18	46072157	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon1:c.G32C:p.W11S;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon1:c.G32C:p.W11S;ENSG00000152229:ENST00000589328:exon1:c.G32C:p.W11S;	0.739910320514608	0.56
18	43652123	C	T	18	46072157	y	y	exonic	PSTPIP2	stopgain SNV	PSTPIP2:NM_024430:exon1:c.G32A:p.W11X;	exonic	ENSG00000152229	stopgain SNV	ENSG00000152229:ENST00000409746:exon1:c.G32A:p.W11X;ENSG00000152229:ENST00000589328:exon1:c.G32A:p.W11X;	0.880023744667121	0.678
18	43652124	A	C	18	46072158	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon1:c.T31G:p.W11G;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon1:c.T31G:p.W11G;ENSG00000152229:ENST00000589328:exon1:c.T31G:p.W11G;	0.0465530241864294	0.414
18	43652124	A	G	18	46072158	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon1:c.T31C:p.W11R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon1:c.T31C:p.W11R;ENSG00000152229:ENST00000589328:exon1:c.T31C:p.W11R;	0.0122389004322145	0.314
18	43652124	A	T	18	46072158	y	y	exonic	PSTPIP2	nonsynonymous SNV	PSTPIP2:NM_024430:exon1:c.T31A:p.W11R;	exonic	ENSG00000152229	nonsynonymous SNV	ENSG00000152229:ENST00000409746:exon1:c.T31A:p.W11R;ENSG00000152229:ENST00000589328:exon1:c.T31A:p.W11R;	0.0216862232039908	0.384
18	43664328	C	A	18	46084362	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon12:c.G1432T:p.A478S;ATP5A1:NM_001001937:exon13:c.G1582T:p.A528S;ATP5A1:NM_001257334:exon12:c.G1516T:p.A506S;ATP5A1:NM_001001935:exon12:c.G1432T:p.A478S;ATP5A1:NM_004046:exon12:c.G1582T:p.A528S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon12:c.G1516T:p.A506S;ENSG00000152234:ENST00000398752:exon12:c.G1582T:p.A528S;ENSG00000152234:ENST00000282050:exon13:c.G1582T:p.A528S;ENSG00000152234:ENST00000593152:exon12:c.G1432T:p.A478S;	6.60139254705156E-5	0.008
18	43664328	C	G	18	46084362	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon12:c.G1432C:p.A478P;ATP5A1:NM_001001937:exon13:c.G1582C:p.A528P;ATP5A1:NM_001257334:exon12:c.G1516C:p.A506P;ATP5A1:NM_001001935:exon12:c.G1432C:p.A478P;ATP5A1:NM_004046:exon12:c.G1582C:p.A528P;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon12:c.G1516C:p.A506P;ENSG00000152234:ENST00000398752:exon12:c.G1582C:p.A528P;ENSG00000152234:ENST00000282050:exon13:c.G1582C:p.A528P;ENSG00000152234:ENST00000593152:exon12:c.G1432C:p.A478P;	4.72520145405573E-5	0.112
18	43664328	C	T	18	46084362	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon12:c.G1432A:p.A478T;ATP5A1:NM_001001937:exon13:c.G1582A:p.A528T;ATP5A1:NM_001257334:exon12:c.G1516A:p.A506T;ATP5A1:NM_001001935:exon12:c.G1432A:p.A478T;ATP5A1:NM_004046:exon12:c.G1582A:p.A528T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon12:c.G1516A:p.A506T;ENSG00000152234:ENST00000398752:exon12:c.G1582A:p.A528T;ENSG00000152234:ENST00000282050:exon13:c.G1582A:p.A528T;ENSG00000152234:ENST00000593152:exon12:c.G1432A:p.A478T;	9.2795075894335E-5	0.02
18	43664329	C	A	18	46084363	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon12:c.G1431T:p.R477S;ATP5A1:NM_001001937:exon13:c.G1581T:p.R527S;ATP5A1:NM_001257334:exon12:c.G1515T:p.R505S;ATP5A1:NM_001001935:exon12:c.G1431T:p.R477S;ATP5A1:NM_004046:exon12:c.G1581T:p.R527S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon12:c.G1515T:p.R505S;ENSG00000152234:ENST00000398752:exon12:c.G1581T:p.R527S;ENSG00000152234:ENST00000282050:exon13:c.G1581T:p.R527S;ENSG00000152234:ENST00000593152:exon12:c.G1431T:p.R477S;	0.995558027971668	0.93
18	43664329	C	G	18	46084363	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon12:c.G1431C:p.R477S;ATP5A1:NM_001001937:exon13:c.G1581C:p.R527S;ATP5A1:NM_001257334:exon12:c.G1515C:p.R505S;ATP5A1:NM_001001935:exon12:c.G1431C:p.R477S;ATP5A1:NM_004046:exon12:c.G1581C:p.R527S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon12:c.G1515C:p.R505S;ENSG00000152234:ENST00000398752:exon12:c.G1581C:p.R527S;ENSG00000152234:ENST00000282050:exon13:c.G1581C:p.R527S;ENSG00000152234:ENST00000593152:exon12:c.G1431C:p.R477S;	0.975457901496751	0.774
18	43664329	C	T	18	46084363	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon12:c.G1431A:p.R477R;ATP5A1:NM_001001937:exon13:c.G1581A:p.R527R;ATP5A1:NM_001257334:exon12:c.G1515A:p.R505R;ATP5A1:NM_001001935:exon12:c.G1431A:p.R477R;ATP5A1:NM_004046:exon12:c.G1581A:p.R527R;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon12:c.G1515A:p.R505R;ENSG00000152234:ENST00000398752:exon12:c.G1581A:p.R527R;ENSG00000152234:ENST00000282050:exon13:c.G1581A:p.R527R;ENSG00000152234:ENST00000593152:exon12:c.G1431A:p.R477R;	0.392291968535964	0.414
18	43664330	C	A	18	46084364	y	y	splicing	ATP5A1(NM_001257335:exon13:c.1431-1G>T;NM_001001935:exon13:c.1431-1G>T;NM_001257334:exon13:c.1515-1G>T;NM_004046:exon13:c.1581-1G>T;NM_001001937:exon14:c.1581-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon14:c.1581-1G>T;ENST00000593152:exon13:c.1431-1G>T;ENST00000398752:exon13:c.1581-1G>T;ENST00000586592:exon13:c.1917-1G>T;ENST00000590665:exon13:c.1515-1G>T;ENST00000590156:exon13:c.1654-1G>T)	.	.	0.999981760802075	0.944
18	43664330	C	G	18	46084364	y	y	splicing	ATP5A1(NM_001257335:exon13:c.1431-1G>C;NM_001001935:exon13:c.1431-1G>C;NM_001257334:exon13:c.1515-1G>C;NM_004046:exon13:c.1581-1G>C;NM_001001937:exon14:c.1581-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon14:c.1581-1G>C;ENST00000593152:exon13:c.1431-1G>C;ENST00000398752:exon13:c.1581-1G>C;ENST00000586592:exon13:c.1917-1G>C;ENST00000590665:exon13:c.1515-1G>C;ENST00000590156:exon13:c.1654-1G>C)	.	.	0.999981760802075	0.944
18	43664330	C	T	18	46084364	y	y	splicing	ATP5A1(NM_001257335:exon13:c.1431-1G>A;NM_001001935:exon13:c.1431-1G>A;NM_001257334:exon13:c.1515-1G>A;NM_004046:exon13:c.1581-1G>A;NM_001001937:exon14:c.1581-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon14:c.1581-1G>A;ENST00000593152:exon13:c.1431-1G>A;ENST00000398752:exon13:c.1581-1G>A;ENST00000586592:exon13:c.1917-1G>A;ENST00000590665:exon13:c.1515-1G>A;ENST00000590156:exon13:c.1654-1G>A)	.	.	0.999981760802075	0.944
18	43664331	T	A	18	46084365	y	y	splicing	ATP5A1(NM_001257335:exon13:c.1431-2A>T;NM_001001935:exon13:c.1431-2A>T;NM_001257334:exon13:c.1515-2A>T;NM_004046:exon13:c.1581-2A>T;NM_001001937:exon14:c.1581-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon14:c.1581-2A>T;ENST00000593152:exon13:c.1431-2A>T;ENST00000398752:exon13:c.1581-2A>T;ENST00000586592:exon13:c.1917-2A>T;ENST00000590665:exon13:c.1515-2A>T;ENST00000590156:exon13:c.1654-2A>T)	.	.	0.999989917668626	0.928
18	43664331	T	C	18	46084365	y	y	splicing	ATP5A1(NM_001257335:exon13:c.1431-2A>G;NM_001001935:exon13:c.1431-2A>G;NM_001257334:exon13:c.1515-2A>G;NM_004046:exon13:c.1581-2A>G;NM_001001937:exon14:c.1581-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon14:c.1581-2A>G;ENST00000593152:exon13:c.1431-2A>G;ENST00000398752:exon13:c.1581-2A>G;ENST00000586592:exon13:c.1917-2A>G;ENST00000590665:exon13:c.1515-2A>G;ENST00000590156:exon13:c.1654-2A>G)	.	.	0.999989917668626	0.928
18	43664331	T	G	18	46084365	y	y	splicing	ATP5A1(NM_001257335:exon13:c.1431-2A>C;NM_001001935:exon13:c.1431-2A>C;NM_001257334:exon13:c.1515-2A>C;NM_004046:exon13:c.1581-2A>C;NM_001001937:exon14:c.1581-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon14:c.1581-2A>C;ENST00000593152:exon13:c.1431-2A>C;ENST00000398752:exon13:c.1581-2A>C;ENST00000586592:exon13:c.1917-2A>C;ENST00000590665:exon13:c.1515-2A>C;ENST00000590156:exon13:c.1654-2A>C)	.	.	0.999989917668626	0.928
18	43664332	A	C	18	46084366	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.847655863436477	0.68
18	43664332	A	G	18	46084366	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.67038419203735E-5	0.0
18	43664332	A	T	18	46084366	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00244475894686733	0.2
18	43664333	T	A	18	46084367	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.16888233029473E-5	0.012
18	43664333	T	C	18	46084367	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.993462831902782	0.814
18	43664333	T	G	18	46084367	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.93896321948386E-5	0.0
18	43664334	T	A	18	46084368	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.05001504110012E-4	0.008
18	43664334	T	C	18	46084368	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.998808086521738	0.994
18	43664334	T	G	18	46084368	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.12815106781664E-4	0.0
18	43664335	T	A	18	46084369	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.15884529533419E-5	0.008
18	43664335	T	C	18	46084369	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.15759229817723E-5	0.016
18	43664335	T	G	18	46084369	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.15884529533419E-5	0.004
18	43664336	G	A	18	46084370	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.50519144617982E-5	0.0
18	43664336	G	C	18	46084370	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00839299054579458	0.162
18	43664336	G	T	18	46084370	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00906447583626058	0.126
18	43664337	G	A	18	46084371	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.03845619440671E-5	0.002
18	43664337	G	C	18	46084371	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0275070024686926	0.124
18	43664337	G	T	18	46084371	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00564979657937672	0.064
18	43664338	A	C	18	46084372	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.979014685050835	0.786
18	43664338	A	G	18	46084372	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0118594408765294	0.066
18	43664338	A	T	18	46084372	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.985949273336096	0.844
18	43664339	A	C	18	46084373	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.546493360864655	0.448
18	43664339	A	G	18	46084373	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.20453051163832E-4	0.102
18	43664339	A	T	18	46084373	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.967864780998233	0.71
18	43664340	A	C	18	46084374	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999127795710801	0.932
18	43664340	A	G	18	46084374	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.119746348646947	0.252
18	43664340	A	T	18	46084374	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.945113377297389	0.748
18	43664341	T	A	18	46084375	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.72524569115133E-5	0.0
18	43664341	T	C	18	46084375	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.1590334056564E-5	0.018
18	43664341	T	G	18	46084375	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.72524569115133E-5	0.0
18	43664462	A	C	18	46084496	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.28225960316881E-5	0.0
18	43664462	A	G	18	46084496	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.25356526846155E-5	0.0
18	43664462	A	T	18	46084496	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.28225960316881E-5	0.0
18	43664463	T	A	18	46084497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.53246772206686E-5	0.006
18	43664463	T	C	18	46084497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.3384934578263E-5	0.0
18	43664463	T	G	18	46084497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.20687394133202E-5	0.0
18	43664464	T	A	18	46084498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.0189483146273E-4	0.044
18	43664464	T	C	18	46084498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.78590831394787E-5	0.0
18	43664464	T	G	18	46084498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.66496740567109E-4	0.018
18	43664465	C	A	18	46084499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.488638980849629	0.44
18	43664465	C	G	18	46084499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.700728211066205	0.42
18	43664465	C	T	18	46084499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.196122616313167	0.39
18	43664466	A	C	18	46084500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.10487184388445E-4	0.01
18	43664466	A	G	18	46084500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.31185158836234E-4	0.012
18	43664466	A	T	18	46084500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.8891841355335E-4	0.078
18	43664467	T	A	18	46084501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.998261046776441	0.87
18	43664467	T	C	18	46084501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.992154520273862	0.696
18	43664467	T	G	18	46084501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999562290782704	0.864
18	43664468	A	C	18	46084502	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1430+2T>G;NM_001001935:exon12:c.1430+2T>G;NM_001257334:exon12:c.1514+2T>G;NM_004046:exon12:c.1580+2T>G;NM_001001937:exon13:c.1580+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1580+2T>G;ENST00000593152:exon12:c.1430+2T>G;ENST00000398752:exon12:c.1580+2T>G;ENST00000586592:exon12:c.1916+2T>G;ENST00000590665:exon12:c.1514+2T>G;ENST00000590156:exon12:c.1653+2T>G)	.	.	0.999969255906173	0.862
18	43664468	A	G	18	46084502	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1430+2T>C;NM_001001935:exon12:c.1430+2T>C;NM_001257334:exon12:c.1514+2T>C;NM_004046:exon12:c.1580+2T>C;NM_001001937:exon13:c.1580+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1580+2T>C;ENST00000593152:exon12:c.1430+2T>C;ENST00000398752:exon12:c.1580+2T>C;ENST00000586592:exon12:c.1916+2T>C;ENST00000590665:exon12:c.1514+2T>C;ENST00000590156:exon12:c.1653+2T>C)	.	.	0.949026161646829	0.566
18	43664468	A	T	18	46084502	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1430+2T>A;NM_001001935:exon12:c.1430+2T>A;NM_001257334:exon12:c.1514+2T>A;NM_004046:exon12:c.1580+2T>A;NM_001001937:exon13:c.1580+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1580+2T>A;ENST00000593152:exon12:c.1430+2T>A;ENST00000398752:exon12:c.1580+2T>A;ENST00000586592:exon12:c.1916+2T>A;ENST00000590665:exon12:c.1514+2T>A;ENST00000590156:exon12:c.1653+2T>A)	.	.	0.999972871252391	0.864
18	43664469	C	A	18	46084503	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1430+1G>T;NM_001001935:exon12:c.1430+1G>T;NM_001257334:exon12:c.1514+1G>T;NM_004046:exon12:c.1580+1G>T;NM_001001937:exon13:c.1580+1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1580+1G>T;ENST00000593152:exon12:c.1430+1G>T;ENST00000398752:exon12:c.1580+1G>T;ENST00000586592:exon12:c.1916+1G>T;ENST00000590665:exon12:c.1514+1G>T;ENST00000590156:exon12:c.1653+1G>T)	.	.	0.999916487880886	0.942
18	43664469	C	G	18	46084503	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1430+1G>C;NM_001001935:exon12:c.1430+1G>C;NM_001257334:exon12:c.1514+1G>C;NM_004046:exon12:c.1580+1G>C;NM_001001937:exon13:c.1580+1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1580+1G>C;ENST00000593152:exon12:c.1430+1G>C;ENST00000398752:exon12:c.1580+1G>C;ENST00000586592:exon12:c.1916+1G>C;ENST00000590665:exon12:c.1514+1G>C;ENST00000590156:exon12:c.1653+1G>C)	.	.	0.999945520654368	0.94
18	43664469	C	T	18	46084503	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1430+1G>A;NM_001001935:exon12:c.1430+1G>A;NM_001257334:exon12:c.1514+1G>A;NM_004046:exon12:c.1580+1G>A;NM_001001937:exon13:c.1580+1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1580+1G>A;ENST00000593152:exon12:c.1430+1G>A;ENST00000398752:exon12:c.1580+1G>A;ENST00000586592:exon12:c.1916+1G>A;ENST00000590665:exon12:c.1514+1G>A;ENST00000590156:exon12:c.1653+1G>A)	.	.	0.999916487880886	0.948
18	43664470	C	A	18	46084504	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.G1430T:p.R477M;ATP5A1:NM_001001937:exon12:c.G1580T:p.R527M;ATP5A1:NM_001257334:exon11:c.G1514T:p.R505M;ATP5A1:NM_001001935:exon11:c.G1430T:p.R477M;ATP5A1:NM_004046:exon11:c.G1580T:p.R527M;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.G1514T:p.R505M;ENSG00000152234:ENST00000398752:exon11:c.G1580T:p.R527M;ENSG00000152234:ENST00000282050:exon12:c.G1580T:p.R527M;ENSG00000152234:ENST00000593152:exon11:c.G1430T:p.R477M;	0.999853176329918	0.998
18	43664470	C	G	18	46084504	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.G1430C:p.R477T;ATP5A1:NM_001001937:exon12:c.G1580C:p.R527T;ATP5A1:NM_001257334:exon11:c.G1514C:p.R505T;ATP5A1:NM_001001935:exon11:c.G1430C:p.R477T;ATP5A1:NM_004046:exon11:c.G1580C:p.R527T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.G1514C:p.R505T;ENSG00000152234:ENST00000398752:exon11:c.G1580C:p.R527T;ENSG00000152234:ENST00000282050:exon12:c.G1580C:p.R527T;ENSG00000152234:ENST00000593152:exon11:c.G1430C:p.R477T;	0.999984490119894	0.954
18	43664470	C	T	18	46084504	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.G1430A:p.R477K;ATP5A1:NM_001001937:exon12:c.G1580A:p.R527K;ATP5A1:NM_001257334:exon11:c.G1514A:p.R505K;ATP5A1:NM_001001935:exon11:c.G1430A:p.R477K;ATP5A1:NM_004046:exon11:c.G1580A:p.R527K;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.G1514A:p.R505K;ENSG00000152234:ENST00000398752:exon11:c.G1580A:p.R527K;ENSG00000152234:ENST00000282050:exon12:c.G1580A:p.R527K;ENSG00000152234:ENST00000593152:exon11:c.G1430A:p.R477K;	0.999476553600116	0.938
18	43664471	T	A	18	46084505	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.A1429T:p.R477W;ATP5A1:NM_001001937:exon12:c.A1579T:p.R527W;ATP5A1:NM_001257334:exon11:c.A1513T:p.R505W;ATP5A1:NM_001001935:exon11:c.A1429T:p.R477W;ATP5A1:NM_004046:exon11:c.A1579T:p.R527W;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.A1513T:p.R505W;ENSG00000152234:ENST00000398752:exon11:c.A1579T:p.R527W;ENSG00000152234:ENST00000282050:exon12:c.A1579T:p.R527W;ENSG00000152234:ENST00000593152:exon11:c.A1429T:p.R477W;	0.99897106920934	0.974
18	43664471	T	C	18	46084505	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.A1429G:p.R477G;ATP5A1:NM_001001937:exon12:c.A1579G:p.R527G;ATP5A1:NM_001257334:exon11:c.A1513G:p.R505G;ATP5A1:NM_001001935:exon11:c.A1429G:p.R477G;ATP5A1:NM_004046:exon11:c.A1579G:p.R527G;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.A1513G:p.R505G;ENSG00000152234:ENST00000398752:exon11:c.A1579G:p.R527G;ENSG00000152234:ENST00000282050:exon12:c.A1579G:p.R527G;ENSG00000152234:ENST00000593152:exon11:c.A1429G:p.R477G;	0.90312602449998	0.648
18	43664471	T	G	18	46084505	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon11:c.A1429C:p.R477R;ATP5A1:NM_001001937:exon12:c.A1579C:p.R527R;ATP5A1:NM_001257334:exon11:c.A1513C:p.R505R;ATP5A1:NM_001001935:exon11:c.A1429C:p.R477R;ATP5A1:NM_004046:exon11:c.A1579C:p.R527R;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.A1513C:p.R505R;ENSG00000152234:ENST00000398752:exon11:c.A1579C:p.R527R;ENSG00000152234:ENST00000282050:exon12:c.A1579C:p.R527R;ENSG00000152234:ENST00000593152:exon11:c.A1429C:p.R477R;	0.710006319490749	0.54
18	43664472	G	A	18	46084506	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon11:c.C1428T:p.I476I;ATP5A1:NM_001001937:exon12:c.C1578T:p.I526I;ATP5A1:NM_001257334:exon11:c.C1512T:p.I504I;ATP5A1:NM_001001935:exon11:c.C1428T:p.I476I;ATP5A1:NM_004046:exon11:c.C1578T:p.I526I;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.C1512T:p.I504I;ENSG00000152234:ENST00000398752:exon11:c.C1578T:p.I526I;ENSG00000152234:ENST00000282050:exon12:c.C1578T:p.I526I;ENSG00000152234:ENST00000593152:exon11:c.C1428T:p.I476I;	0.0206922845126559	0.318
18	43664472	G	C	18	46084506	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.C1428G:p.I476M;ATP5A1:NM_001001937:exon12:c.C1578G:p.I526M;ATP5A1:NM_001257334:exon11:c.C1512G:p.I504M;ATP5A1:NM_001001935:exon11:c.C1428G:p.I476M;ATP5A1:NM_004046:exon11:c.C1578G:p.I526M;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.C1512G:p.I504M;ENSG00000152234:ENST00000398752:exon11:c.C1578G:p.I526M;ENSG00000152234:ENST00000282050:exon12:c.C1578G:p.I526M;ENSG00000152234:ENST00000593152:exon11:c.C1428G:p.I476M;	6.01174760415124E-4	0.016
18	43664472	G	T	18	46084506	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon11:c.C1428A:p.I476I;ATP5A1:NM_001001937:exon12:c.C1578A:p.I526I;ATP5A1:NM_001257334:exon11:c.C1512A:p.I504I;ATP5A1:NM_001001935:exon11:c.C1428A:p.I476I;ATP5A1:NM_004046:exon11:c.C1578A:p.I526I;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.C1512A:p.I504I;ENSG00000152234:ENST00000398752:exon11:c.C1578A:p.I526I;ENSG00000152234:ENST00000282050:exon12:c.C1578A:p.I526I;ENSG00000152234:ENST00000593152:exon11:c.C1428A:p.I476I;	6.04341101354221E-5	0.018
18	43664619	A	C	18	46084653	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon11:c.T1281G:p.S427S;ATP5A1:NM_001001937:exon12:c.T1431G:p.S477S;ATP5A1:NM_001257334:exon11:c.T1365G:p.S455S;ATP5A1:NM_001001935:exon11:c.T1281G:p.S427S;ATP5A1:NM_004046:exon11:c.T1431G:p.S477S;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.T1365G:p.S455S;ENSG00000152234:ENST00000398752:exon11:c.T1431G:p.S477S;ENSG00000152234:ENST00000282050:exon12:c.T1431G:p.S477S;ENSG00000152234:ENST00000593152:exon11:c.T1281G:p.S427S;	1.07568673172311E-4	0.01
18	43664619	A	G	18	46084653	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon11:c.T1281C:p.S427S;ATP5A1:NM_001001937:exon12:c.T1431C:p.S477S;ATP5A1:NM_001257334:exon11:c.T1365C:p.S455S;ATP5A1:NM_001001935:exon11:c.T1281C:p.S427S;ATP5A1:NM_004046:exon11:c.T1431C:p.S477S;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.T1365C:p.S455S;ENSG00000152234:ENST00000398752:exon11:c.T1431C:p.S477S;ENSG00000152234:ENST00000282050:exon12:c.T1431C:p.S477S;ENSG00000152234:ENST00000593152:exon11:c.T1281C:p.S427S;	2.77207801352841E-4	0.036
18	43664619	A	T	18	46084653	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon11:c.T1281A:p.S427S;ATP5A1:NM_001001937:exon12:c.T1431A:p.S477S;ATP5A1:NM_001257334:exon11:c.T1365A:p.S455S;ATP5A1:NM_001001935:exon11:c.T1281A:p.S427S;ATP5A1:NM_004046:exon11:c.T1431A:p.S477S;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.T1365A:p.S455S;ENSG00000152234:ENST00000398752:exon11:c.T1431A:p.S477S;ENSG00000152234:ENST00000282050:exon12:c.T1431A:p.S477S;ENSG00000152234:ENST00000593152:exon11:c.T1281A:p.S427S;	2.84904445559312E-4	0.032
18	43664620	G	A	18	46084654	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.C1280T:p.S427F;ATP5A1:NM_001001937:exon12:c.C1430T:p.S477F;ATP5A1:NM_001257334:exon11:c.C1364T:p.S455F;ATP5A1:NM_001001935:exon11:c.C1280T:p.S427F;ATP5A1:NM_004046:exon11:c.C1430T:p.S477F;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.C1364T:p.S455F;ENSG00000152234:ENST00000398752:exon11:c.C1430T:p.S477F;ENSG00000152234:ENST00000282050:exon12:c.C1430T:p.S477F;ENSG00000152234:ENST00000593152:exon11:c.C1280T:p.S427F;	0.00561440866451727	0.196
18	43664620	G	C	18	46084654	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.C1280G:p.S427C;ATP5A1:NM_001001937:exon12:c.C1430G:p.S477C;ATP5A1:NM_001257334:exon11:c.C1364G:p.S455C;ATP5A1:NM_001001935:exon11:c.C1280G:p.S427C;ATP5A1:NM_004046:exon11:c.C1430G:p.S477C;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.C1364G:p.S455C;ENSG00000152234:ENST00000398752:exon11:c.C1430G:p.S477C;ENSG00000152234:ENST00000282050:exon12:c.C1430G:p.S477C;ENSG00000152234:ENST00000593152:exon11:c.C1280G:p.S427C;	2.58986389671304E-4	0.078
18	43664620	G	T	18	46084654	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon11:c.C1280A:p.S427Y;ATP5A1:NM_001001937:exon12:c.C1430A:p.S477Y;ATP5A1:NM_001257334:exon11:c.C1364A:p.S455Y;ATP5A1:NM_001001935:exon11:c.C1280A:p.S427Y;ATP5A1:NM_004046:exon11:c.C1430A:p.S477Y;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon11:c.C1364A:p.S455Y;ENSG00000152234:ENST00000398752:exon11:c.C1430A:p.S477Y;ENSG00000152234:ENST00000282050:exon12:c.C1430A:p.S477Y;ENSG00000152234:ENST00000593152:exon11:c.C1280A:p.S427Y;	0.0116096635221541	0.204
18	43664621	C	A	18	46084655	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1280-1G>T;NM_001001935:exon12:c.1280-1G>T;NM_001257334:exon12:c.1364-1G>T;NM_004046:exon12:c.1430-1G>T;NM_001001937:exon13:c.1430-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1430-1G>T;ENST00000593152:exon12:c.1280-1G>T;ENST00000398752:exon12:c.1430-1G>T;ENST00000586592:exon12:c.1766-1G>T;ENST00000590665:exon12:c.1364-1G>T;ENST00000590156:exon12:c.1503-1G>T)	.	.	0.999979023971766	0.936
18	43664621	C	G	18	46084655	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1280-1G>C;NM_001001935:exon12:c.1280-1G>C;NM_001257334:exon12:c.1364-1G>C;NM_004046:exon12:c.1430-1G>C;NM_001001937:exon13:c.1430-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1430-1G>C;ENST00000593152:exon12:c.1280-1G>C;ENST00000398752:exon12:c.1430-1G>C;ENST00000586592:exon12:c.1766-1G>C;ENST00000590665:exon12:c.1364-1G>C;ENST00000590156:exon12:c.1503-1G>C)	.	.	0.999979023971766	0.936
18	43664621	C	T	18	46084655	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1280-1G>A;NM_001001935:exon12:c.1280-1G>A;NM_001257334:exon12:c.1364-1G>A;NM_004046:exon12:c.1430-1G>A;NM_001001937:exon13:c.1430-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1430-1G>A;ENST00000593152:exon12:c.1280-1G>A;ENST00000398752:exon12:c.1430-1G>A;ENST00000586592:exon12:c.1766-1G>A;ENST00000590665:exon12:c.1364-1G>A;ENST00000590156:exon12:c.1503-1G>A)	.	.	0.999979023971766	0.938
18	43664622	T	A	18	46084656	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1280-2A>T;NM_001001935:exon12:c.1280-2A>T;NM_001257334:exon12:c.1364-2A>T;NM_004046:exon12:c.1430-2A>T;NM_001001937:exon13:c.1430-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1430-2A>T;ENST00000593152:exon12:c.1280-2A>T;ENST00000398752:exon12:c.1430-2A>T;ENST00000586592:exon12:c.1766-2A>T;ENST00000590665:exon12:c.1364-2A>T;ENST00000590156:exon12:c.1503-2A>T)	.	.	0.999986607513753	0.922
18	43664622	T	C	18	46084656	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1280-2A>G;NM_001001935:exon12:c.1280-2A>G;NM_001257334:exon12:c.1364-2A>G;NM_004046:exon12:c.1430-2A>G;NM_001001937:exon13:c.1430-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1430-2A>G;ENST00000593152:exon12:c.1280-2A>G;ENST00000398752:exon12:c.1430-2A>G;ENST00000586592:exon12:c.1766-2A>G;ENST00000590665:exon12:c.1364-2A>G;ENST00000590156:exon12:c.1503-2A>G)	.	.	0.999986607513753	0.922
18	43664622	T	G	18	46084656	y	y	splicing	ATP5A1(NM_001257335:exon12:c.1280-2A>C;NM_001001935:exon12:c.1280-2A>C;NM_001257334:exon12:c.1364-2A>C;NM_004046:exon12:c.1430-2A>C;NM_001001937:exon13:c.1430-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon13:c.1430-2A>C;ENST00000593152:exon12:c.1280-2A>C;ENST00000398752:exon12:c.1430-2A>C;ENST00000586592:exon12:c.1766-2A>C;ENST00000590665:exon12:c.1364-2A>C;ENST00000590156:exon12:c.1503-2A>C)	.	.	0.999986607513753	0.922
18	43664623	G	A	18	46084657	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00127181826265708	0.086
18	43664623	G	C	18	46084657	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999791736237701	0.942
18	43664623	G	T	18	46084657	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.212344343447897	0.388
18	43664624	A	C	18	46084658	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.31902944701724E-5	0.0
18	43664624	A	G	18	46084658	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.37692992248644E-5	0.002
18	43664624	A	T	18	46084658	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.80850092287395E-5	0.002
18	43664625	A	C	18	46084659	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.175453939614981	0.398
18	43664625	A	G	18	46084659	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.22909441196159E-4	0.068
18	43664625	A	T	18	46084659	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.32377006318915	0.408
18	43664626	A	C	18	46084660	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0103418958272386	0.4
18	43664626	A	G	18	46084660	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.82861469497334E-5	0.006
18	43664626	A	T	18	46084660	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00433970882678735	0.408
18	43664627	A	C	18	46084661	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00322110970334057	0.264
18	43664627	A	G	18	46084661	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.30895689696753E-5	0.016
18	43664627	A	T	18	46084661	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00953017378616758	0.308
18	43664628	G	A	18	46084662	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.11525771808723E-5	0.128
18	43664628	G	C	18	46084662	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.1178146706084E-4	0.09
18	43664628	G	T	18	46084662	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00154919137351995	0.22
18	43664629	A	C	18	46084663	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.998096454553252	0.954
18	43664629	A	G	18	46084663	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.06239907789677E-4	0.008
18	43664629	A	T	18	46084663	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00507253014754486	0.402
18	43664630	T	A	18	46084664	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.1223141969009E-6	0.0
18	43664630	T	C	18	46084664	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.72021936288374E-5	0.006
18	43664630	T	G	18	46084664	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.04499936416199E-6	0.0
18	43664631	A	C	18	46084665	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.117174851866384	0.45
18	43664631	A	G	18	46084665	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00143307390474903	0.194
18	43664631	A	T	18	46084665	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0715458460874763	0.436
18	43664632	C	A	18	46084666	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.94777979037645E-5	0.042
18	43664632	C	G	18	46084666	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.59314570435588E-5	0.024
18	43664632	C	T	18	46084666	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.92785227089185E-5	0.004
18	43666071	C	A	18	46086105	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.80226767574541E-5	0.002
18	43666071	C	G	18	46086105	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.80226767574541E-5	0.0
18	43666071	C	T	18	46086105	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.11443369865622E-5	0.0
18	43666072	A	C	18	46086106	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.50838036843479E-5	0.002
18	43666072	A	G	18	46086106	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.50838036843479E-5	0.002
18	43666072	A	T	18	46086106	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.39022668238475E-5	0.016
18	43666073	A	C	18	46086107	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.947772225050234	0.612
18	43666073	A	G	18	46086107	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.94156590280675	0.566
18	43666073	A	T	18	46086107	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.915095325410417	0.536
18	43666074	C	A	18	46086108	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999972237433396	0.994
18	43666074	C	G	18	46086108	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999974972687419	0.982
18	43666074	C	T	18	46086108	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999969013119531	0.994
18	43666075	T	A	18	46086109	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.991024753221101	0.79
18	43666075	T	C	18	46086109	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.974514576582321	0.822
18	43666075	T	G	18	46086109	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.988824308641782	0.826
18	43666076	T	A	18	46086110	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.99975382185147	0.88
18	43666076	T	C	18	46086110	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0018708495421147	0.046
18	43666076	T	G	18	46086110	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999720917959718	0.884
18	43666077	A	C	18	46086111	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1279+2T>G;NM_001001935:exon11:c.1279+2T>G;NM_001257334:exon11:c.1363+2T>G;NM_004046:exon11:c.1429+2T>G;NM_001001937:exon12:c.1429+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1429+2T>G;ENST00000593152:exon11:c.1279+2T>G;ENST00000398752:exon11:c.1429+2T>G;ENST00000586592:exon11:c.1765+2T>G;ENST00000590665:exon11:c.1363+2T>G;ENST00000590156:exon11:c.1502+2T>G)	.	.	0.999978952611685	0.93
18	43666077	A	G	18	46086111	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1279+2T>C;NM_001001935:exon11:c.1279+2T>C;NM_001257334:exon11:c.1363+2T>C;NM_004046:exon11:c.1429+2T>C;NM_001001937:exon12:c.1429+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1429+2T>C;ENST00000593152:exon11:c.1279+2T>C;ENST00000398752:exon11:c.1429+2T>C;ENST00000586592:exon11:c.1765+2T>C;ENST00000590665:exon11:c.1363+2T>C;ENST00000590156:exon11:c.1502+2T>C)	.	.	0.987256086742815	0.682
18	43666077	A	T	18	46086111	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1279+2T>A;NM_001001935:exon11:c.1279+2T>A;NM_001257334:exon11:c.1363+2T>A;NM_004046:exon11:c.1429+2T>A;NM_001001937:exon12:c.1429+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1429+2T>A;ENST00000593152:exon11:c.1279+2T>A;ENST00000398752:exon11:c.1429+2T>A;ENST00000586592:exon11:c.1765+2T>A;ENST00000590665:exon11:c.1363+2T>A;ENST00000590156:exon11:c.1502+2T>A)	.	.	0.999988247793601	0.928
18	43666078	C	A	18	46086112	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1279+1G>T;NM_001001935:exon11:c.1279+1G>T;NM_001257334:exon11:c.1363+1G>T;NM_004046:exon11:c.1429+1G>T;NM_001001937:exon12:c.1429+1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1429+1G>T;ENST00000593152:exon11:c.1279+1G>T;ENST00000398752:exon11:c.1429+1G>T;ENST00000586592:exon11:c.1765+1G>T;ENST00000590665:exon11:c.1363+1G>T;ENST00000590156:exon11:c.1502+1G>T)	.	.	0.999990361384395	0.938
18	43666078	C	G	18	46086112	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1279+1G>C;NM_001001935:exon11:c.1279+1G>C;NM_001257334:exon11:c.1363+1G>C;NM_004046:exon11:c.1429+1G>C;NM_001001937:exon12:c.1429+1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1429+1G>C;ENST00000593152:exon11:c.1279+1G>C;ENST00000398752:exon11:c.1429+1G>C;ENST00000586592:exon11:c.1765+1G>C;ENST00000590665:exon11:c.1363+1G>C;ENST00000590156:exon11:c.1502+1G>C)	.	.	0.999990361384395	0.938
18	43666078	C	T	18	46086112	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1279+1G>A;NM_001001935:exon11:c.1279+1G>A;NM_001257334:exon11:c.1363+1G>A;NM_004046:exon11:c.1429+1G>A;NM_001001937:exon12:c.1429+1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1429+1G>A;ENST00000593152:exon11:c.1279+1G>A;ENST00000398752:exon11:c.1429+1G>A;ENST00000586592:exon11:c.1765+1G>A;ENST00000590665:exon11:c.1363+1G>A;ENST00000590156:exon11:c.1502+1G>A)	.	.	0.999990361384395	0.938
18	43666079	A	C	18	46086113	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.T1279G:p.S427A;ATP5A1:NM_001001937:exon11:c.T1429G:p.S477A;ATP5A1:NM_001257334:exon10:c.T1363G:p.S455A;ATP5A1:NM_001001935:exon10:c.T1279G:p.S427A;ATP5A1:NM_004046:exon10:c.T1429G:p.S477A;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.T1363G:p.S455A;ENSG00000152234:ENST00000398752:exon10:c.T1429G:p.S477A;ENSG00000152234:ENST00000282050:exon11:c.T1429G:p.S477A;ENSG00000152234:ENST00000593152:exon10:c.T1279G:p.S427A;	4.68174164084504E-5	0.096
18	43666079	A	G	18	46086113	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.T1279C:p.S427P;ATP5A1:NM_001001937:exon11:c.T1429C:p.S477P;ATP5A1:NM_001257334:exon10:c.T1363C:p.S455P;ATP5A1:NM_001001935:exon10:c.T1279C:p.S427P;ATP5A1:NM_004046:exon10:c.T1429C:p.S477P;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.T1363C:p.S455P;ENSG00000152234:ENST00000398752:exon10:c.T1429C:p.S477P;ENSG00000152234:ENST00000282050:exon11:c.T1429C:p.S477P;ENSG00000152234:ENST00000593152:exon10:c.T1279C:p.S427P;	1.30880382871984E-4	0.202
18	43666079	A	T	18	46086113	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.T1279A:p.S427T;ATP5A1:NM_001001937:exon11:c.T1429A:p.S477T;ATP5A1:NM_001257334:exon10:c.T1363A:p.S455T;ATP5A1:NM_001001935:exon10:c.T1279A:p.S427T;ATP5A1:NM_004046:exon10:c.T1429A:p.S477T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.T1363A:p.S455T;ENSG00000152234:ENST00000398752:exon10:c.T1429A:p.S477T;ENSG00000152234:ENST00000282050:exon11:c.T1429A:p.S477T;ENSG00000152234:ENST00000593152:exon10:c.T1279A:p.S427T;	1.2331424406611E-5	0.15
18	43666080	A	C	18	46086114	y	y	exonic	ATP5A1	stopgain SNV	ATP5A1:NM_001257335:exon10:c.T1278G:p.Y426X;ATP5A1:NM_001001937:exon11:c.T1428G:p.Y476X;ATP5A1:NM_001257334:exon10:c.T1362G:p.Y454X;ATP5A1:NM_001001935:exon10:c.T1278G:p.Y426X;ATP5A1:NM_004046:exon10:c.T1428G:p.Y476X;	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590665:exon10:c.T1362G:p.Y454X;ENSG00000152234:ENST00000398752:exon10:c.T1428G:p.Y476X;ENSG00000152234:ENST00000282050:exon11:c.T1428G:p.Y476X;ENSG00000152234:ENST00000593152:exon10:c.T1278G:p.Y426X;	0.00267168524749518	0.332
18	43666080	A	G	18	46086114	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon10:c.T1278C:p.Y426Y;ATP5A1:NM_001001937:exon11:c.T1428C:p.Y476Y;ATP5A1:NM_001257334:exon10:c.T1362C:p.Y454Y;ATP5A1:NM_001001935:exon10:c.T1278C:p.Y426Y;ATP5A1:NM_004046:exon10:c.T1428C:p.Y476Y;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.T1362C:p.Y454Y;ENSG00000152234:ENST00000398752:exon10:c.T1428C:p.Y476Y;ENSG00000152234:ENST00000282050:exon11:c.T1428C:p.Y476Y;ENSG00000152234:ENST00000593152:exon10:c.T1278C:p.Y426Y;	1.87126607466356E-5	0.004
18	43666080	A	T	18	46086114	y	y	exonic	ATP5A1	stopgain SNV	ATP5A1:NM_001257335:exon10:c.T1278A:p.Y426X;ATP5A1:NM_001001937:exon11:c.T1428A:p.Y476X;ATP5A1:NM_001257334:exon10:c.T1362A:p.Y454X;ATP5A1:NM_001001935:exon10:c.T1278A:p.Y426X;ATP5A1:NM_004046:exon10:c.T1428A:p.Y476X;	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590665:exon10:c.T1362A:p.Y454X;ENSG00000152234:ENST00000398752:exon10:c.T1428A:p.Y476X;ENSG00000152234:ENST00000282050:exon11:c.T1428A:p.Y476X;ENSG00000152234:ENST00000593152:exon10:c.T1278A:p.Y426X;	2.35054859522717E-4	0.368
18	43666081	T	A	18	46086115	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.A1277T:p.Y426F;ATP5A1:NM_001001937:exon11:c.A1427T:p.Y476F;ATP5A1:NM_001257334:exon10:c.A1361T:p.Y454F;ATP5A1:NM_001001935:exon10:c.A1277T:p.Y426F;ATP5A1:NM_004046:exon10:c.A1427T:p.Y476F;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.A1361T:p.Y454F;ENSG00000152234:ENST00000398752:exon10:c.A1427T:p.Y476F;ENSG00000152234:ENST00000282050:exon11:c.A1427T:p.Y476F;ENSG00000152234:ENST00000593152:exon10:c.A1277T:p.Y426F;	0.937892784118492	0.636
18	43666081	T	C	18	46086115	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.A1277G:p.Y426C;ATP5A1:NM_001001937:exon11:c.A1427G:p.Y476C;ATP5A1:NM_001257334:exon10:c.A1361G:p.Y454C;ATP5A1:NM_001001935:exon10:c.A1277G:p.Y426C;ATP5A1:NM_004046:exon10:c.A1427G:p.Y476C;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.A1361G:p.Y454C;ENSG00000152234:ENST00000398752:exon10:c.A1427G:p.Y476C;ENSG00000152234:ENST00000282050:exon11:c.A1427G:p.Y476C;ENSG00000152234:ENST00000593152:exon10:c.A1277G:p.Y426C;	0.0537224864419758	0.378
18	43666081	T	G	18	46086115	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.A1277C:p.Y426S;ATP5A1:NM_001001937:exon11:c.A1427C:p.Y476S;ATP5A1:NM_001257334:exon10:c.A1361C:p.Y454S;ATP5A1:NM_001001935:exon10:c.A1277C:p.Y426S;ATP5A1:NM_004046:exon10:c.A1427C:p.Y476S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.A1361C:p.Y454S;ENSG00000152234:ENST00000398752:exon10:c.A1427C:p.Y476S;ENSG00000152234:ENST00000282050:exon11:c.A1427C:p.Y476S;ENSG00000152234:ENST00000593152:exon10:c.A1277C:p.Y426S;	0.258562386675249	0.504
18	43666222	A	C	18	46086256	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.T1136G:p.V379G;ATP5A1:NM_001001937:exon11:c.T1286G:p.V429G;ATP5A1:NM_001257334:exon10:c.T1220G:p.V407G;ATP5A1:NM_001001935:exon10:c.T1136G:p.V379G;ATP5A1:NM_004046:exon10:c.T1286G:p.V429G;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.T1220G:p.V407G;ENSG00000152234:ENST00000398752:exon10:c.T1286G:p.V429G;ENSG00000152234:ENST00000282050:exon11:c.T1286G:p.V429G;ENSG00000152234:ENST00000593152:exon10:c.T1136G:p.V379G;	0.248950775439827	0.532
18	43666222	A	G	18	46086256	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.T1136C:p.V379A;ATP5A1:NM_001001937:exon11:c.T1286C:p.V429A;ATP5A1:NM_001257334:exon10:c.T1220C:p.V407A;ATP5A1:NM_001001935:exon10:c.T1136C:p.V379A;ATP5A1:NM_004046:exon10:c.T1286C:p.V429A;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.T1220C:p.V407A;ENSG00000152234:ENST00000398752:exon10:c.T1286C:p.V429A;ENSG00000152234:ENST00000282050:exon11:c.T1286C:p.V429A;ENSG00000152234:ENST00000593152:exon10:c.T1136C:p.V379A;	0.249814325915737	0.456
18	43666222	A	T	18	46086256	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.T1136A:p.V379E;ATP5A1:NM_001001937:exon11:c.T1286A:p.V429E;ATP5A1:NM_001257334:exon10:c.T1220A:p.V407E;ATP5A1:NM_001001935:exon10:c.T1136A:p.V379E;ATP5A1:NM_004046:exon10:c.T1286A:p.V429E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.T1220A:p.V407E;ENSG00000152234:ENST00000398752:exon10:c.T1286A:p.V429E;ENSG00000152234:ENST00000282050:exon11:c.T1286A:p.V429E;ENSG00000152234:ENST00000593152:exon10:c.T1136A:p.V379E;	0.100186530280075	0.54
18	43666223	C	A	18	46086257	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.G1135T:p.V379L;ATP5A1:NM_001001937:exon11:c.G1285T:p.V429L;ATP5A1:NM_001257334:exon10:c.G1219T:p.V407L;ATP5A1:NM_001001935:exon10:c.G1135T:p.V379L;ATP5A1:NM_004046:exon10:c.G1285T:p.V429L;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.G1219T:p.V407L;ENSG00000152234:ENST00000398752:exon10:c.G1285T:p.V429L;ENSG00000152234:ENST00000282050:exon11:c.G1285T:p.V429L;ENSG00000152234:ENST00000593152:exon10:c.G1135T:p.V379L;	0.999778413819944	0.972
18	43666223	C	G	18	46086257	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.G1135C:p.V379L;ATP5A1:NM_001001937:exon11:c.G1285C:p.V429L;ATP5A1:NM_001257334:exon10:c.G1219C:p.V407L;ATP5A1:NM_001001935:exon10:c.G1135C:p.V379L;ATP5A1:NM_004046:exon10:c.G1285C:p.V429L;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.G1219C:p.V407L;ENSG00000152234:ENST00000398752:exon10:c.G1285C:p.V429L;ENSG00000152234:ENST00000282050:exon11:c.G1285C:p.V429L;ENSG00000152234:ENST00000593152:exon10:c.G1135C:p.V379L;	0.999687308001576	0.95
18	43666223	C	T	18	46086257	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon10:c.G1135A:p.V379I;ATP5A1:NM_001001937:exon11:c.G1285A:p.V429I;ATP5A1:NM_001257334:exon10:c.G1219A:p.V407I;ATP5A1:NM_001001935:exon10:c.G1135A:p.V379I;ATP5A1:NM_004046:exon10:c.G1285A:p.V429I;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon10:c.G1219A:p.V407I;ENSG00000152234:ENST00000398752:exon10:c.G1285A:p.V429I;ENSG00000152234:ENST00000282050:exon11:c.G1285A:p.V429I;ENSG00000152234:ENST00000593152:exon10:c.G1135A:p.V379I;	0.996787653221579	0.822
18	43666224	C	A	18	46086258	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1135-1G>T;NM_001001935:exon11:c.1135-1G>T;NM_001257334:exon11:c.1219-1G>T;NM_004046:exon11:c.1285-1G>T;NM_001001937:exon12:c.1285-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1285-1G>T;ENST00000593152:exon11:c.1135-1G>T;ENST00000398752:exon11:c.1285-1G>T;ENST00000586592:exon11:c.1621-1G>T;ENST00000590665:exon11:c.1219-1G>T;ENST00000590156:exon11:c.1358-1G>T;ENST00000592364:exon7:c.392-1G>T)	.	.	0.999981760802075	0.936
18	43666224	C	G	18	46086258	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1135-1G>C;NM_001001935:exon11:c.1135-1G>C;NM_001257334:exon11:c.1219-1G>C;NM_004046:exon11:c.1285-1G>C;NM_001001937:exon12:c.1285-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1285-1G>C;ENST00000593152:exon11:c.1135-1G>C;ENST00000398752:exon11:c.1285-1G>C;ENST00000586592:exon11:c.1621-1G>C;ENST00000590665:exon11:c.1219-1G>C;ENST00000590156:exon11:c.1358-1G>C;ENST00000592364:exon7:c.392-1G>C)	.	.	0.999981760802075	0.936
18	43666224	C	T	18	46086258	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1135-1G>A;NM_001001935:exon11:c.1135-1G>A;NM_001257334:exon11:c.1219-1G>A;NM_004046:exon11:c.1285-1G>A;NM_001001937:exon12:c.1285-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1285-1G>A;ENST00000593152:exon11:c.1135-1G>A;ENST00000398752:exon11:c.1285-1G>A;ENST00000586592:exon11:c.1621-1G>A;ENST00000590665:exon11:c.1219-1G>A;ENST00000590156:exon11:c.1358-1G>A;ENST00000592364:exon7:c.392-1G>A)	.	.	0.999981760802075	0.936
18	43666225	T	A	18	46086259	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1135-2A>T;NM_001001935:exon11:c.1135-2A>T;NM_001257334:exon11:c.1219-2A>T;NM_004046:exon11:c.1285-2A>T;NM_001001937:exon12:c.1285-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1285-2A>T;ENST00000593152:exon11:c.1135-2A>T;ENST00000398752:exon11:c.1285-2A>T;ENST00000586592:exon11:c.1621-2A>T;ENST00000590665:exon11:c.1219-2A>T;ENST00000590156:exon11:c.1358-2A>T;ENST00000592364:exon7:c.392-2A>T)	.	.	0.999989917668626	0.924
18	43666225	T	C	18	46086259	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1135-2A>G;NM_001001935:exon11:c.1135-2A>G;NM_001257334:exon11:c.1219-2A>G;NM_004046:exon11:c.1285-2A>G;NM_001001937:exon12:c.1285-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1285-2A>G;ENST00000593152:exon11:c.1135-2A>G;ENST00000398752:exon11:c.1285-2A>G;ENST00000586592:exon11:c.1621-2A>G;ENST00000590665:exon11:c.1219-2A>G;ENST00000590156:exon11:c.1358-2A>G;ENST00000592364:exon7:c.392-2A>G)	.	.	0.999989917668626	0.926
18	43666225	T	G	18	46086259	y	y	splicing	ATP5A1(NM_001257335:exon11:c.1135-2A>C;NM_001001935:exon11:c.1135-2A>C;NM_001257334:exon11:c.1219-2A>C;NM_004046:exon11:c.1285-2A>C;NM_001001937:exon12:c.1285-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon12:c.1285-2A>C;ENST00000593152:exon11:c.1135-2A>C;ENST00000398752:exon11:c.1285-2A>C;ENST00000586592:exon11:c.1621-2A>C;ENST00000590665:exon11:c.1219-2A>C;ENST00000590156:exon11:c.1358-2A>C;ENST00000592364:exon7:c.392-2A>C)	.	.	0.999989917668626	0.926
18	43666226	G	A	18	46086260	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00355492405329018	0.132
18	43666226	G	C	18	46086260	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999863159062057	0.952
18	43666226	G	T	18	46086260	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.911675776893899	0.626
18	43666227	C	A	18	46086261	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.13879224812485E-5	0.0
18	43666227	C	G	18	46086261	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.50282885853117E-5	0.07
18	43666227	C	T	18	46086261	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.1924497094666E-5	0.112
18	43666228	A	C	18	46086262	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.498988261790842	0.482
18	43666228	A	G	18	46086262	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00611840982527577	0.1
18	43666228	A	T	18	46086262	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999482731055729	0.954
18	43666229	A	C	18	46086263	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999968618886393	0.976
18	43666229	A	G	18	46086263	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.47301993216368E-5	0.002
18	43666229	A	T	18	46086263	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.391156395737274	0.404
18	43666230	T	A	18	46086264	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.21670231868576E-5	0.0
18	43666230	T	C	18	46086264	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.01360650998576E-5	0.0
18	43666230	T	G	18	46086264	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.03439056242325E-5	0.014
18	43666231	A	C	18	46086265	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0866484347593767	0.358
18	43666231	A	G	18	46086265	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.95123252012446E-5	0.002
18	43666231	A	T	18	46086265	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.140135220831524	0.29
18	43666232	C	A	18	46086266	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.2042916016311E-5	0.0
18	43666232	C	G	18	46086266	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.93763049397558E-5	0.0
18	43666232	C	T	18	46086266	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.903001801734E-5	0.0
18	43666233	A	C	18	46086267	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.542800639669573	0.576
18	43666233	A	G	18	46086267	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.32348483730437E-4	0.034
18	43666233	A	T	18	46086267	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999884006245535	0.978
18	43666234	G	A	18	46086268	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.21946853154343E-5	0.0
18	43666234	G	C	18	46086268	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.43276163377871E-5	0.0
18	43666234	G	T	18	46086268	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.19004132248984E-4	0.088
18	43666235	A	C	18	46086269	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0387430449570957	0.404
18	43666235	A	G	18	46086269	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.05616188795246E-4	0.002
18	43666235	A	T	18	46086269	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.116484972123216	0.476
18	43666345	A	C	18	46086379	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.4452561704095E-5	0.02
18	43666345	A	G	18	46086379	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.56990728296148E-5	0.022
18	43666345	A	T	18	46086379	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.99387849675482E-5	0.016
18	43666346	A	C	18	46086380	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.71366398668126E-4	0.002
18	43666346	A	G	18	46086380	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.80202021678379E-4	0.004
18	43666346	A	T	18	46086380	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.51792521735738E-4	0.01
18	43666347	A	C	18	46086381	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00566856487003957	0.328
18	43666347	A	G	18	46086381	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.763658284742652	0.482
18	43666347	A	T	18	46086381	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.023413070398056	0.338
18	43666348	A	C	18	46086382	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.00947977819572E-5	0.04
18	43666348	A	G	18	46086382	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.20589345748442E-4	0.004
18	43666348	A	T	18	46086382	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.89917904195971E-5	0.002
18	43666349	T	A	18	46086383	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.135781350477874	0.39
18	43666349	T	C	18	46086383	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.220908112356226	0.464
18	43666349	T	G	18	46086383	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.107922235131171	0.3
18	43666350	T	A	18	46086384	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.998459383059573	0.862
18	43666350	T	C	18	46086384	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.268758239021512	0.638
18	43666350	T	G	18	46086384	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.99796708695058	0.854
18	43666351	A	C	18	46086385	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1134+2T>G;NM_001001935:exon10:c.1134+2T>G;NM_001257334:exon10:c.1218+2T>G;NM_004046:exon10:c.1284+2T>G;NM_001001937:exon11:c.1284+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1284+2T>G;ENST00000593152:exon10:c.1134+2T>G;ENST00000398752:exon10:c.1284+2T>G;ENST00000586592:exon10:c.1620+2T>G;ENST00000590665:exon10:c.1218+2T>G;ENST00000590156:exon10:c.1357+2T>G;ENST00000592364:exon6:c.391+2T>G)	.	.	0.999992752818502	0.928
18	43666351	A	G	18	46086385	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1134+2T>C;NM_001001935:exon10:c.1134+2T>C;NM_001257334:exon10:c.1218+2T>C;NM_004046:exon10:c.1284+2T>C;NM_001001937:exon11:c.1284+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1284+2T>C;ENST00000593152:exon10:c.1134+2T>C;ENST00000398752:exon10:c.1284+2T>C;ENST00000586592:exon10:c.1620+2T>C;ENST00000590665:exon10:c.1218+2T>C;ENST00000590156:exon10:c.1357+2T>C;ENST00000592364:exon6:c.391+2T>C)	.	.	0.992019297660769	0.626
18	43666351	A	T	18	46086385	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1134+2T>A;NM_001001935:exon10:c.1134+2T>A;NM_001257334:exon10:c.1218+2T>A;NM_004046:exon10:c.1284+2T>A;NM_001001937:exon11:c.1284+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1284+2T>A;ENST00000593152:exon10:c.1134+2T>A;ENST00000398752:exon10:c.1284+2T>A;ENST00000586592:exon10:c.1620+2T>A;ENST00000590665:exon10:c.1218+2T>A;ENST00000590156:exon10:c.1357+2T>A;ENST00000592364:exon6:c.391+2T>A)	.	.	0.999992752818502	0.928
18	43666352	C	A	18	46086386	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1134+1G>T;NM_001001935:exon10:c.1134+1G>T;NM_001257334:exon10:c.1218+1G>T;NM_004046:exon10:c.1284+1G>T;NM_001001937:exon11:c.1284+1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1284+1G>T;ENST00000593152:exon10:c.1134+1G>T;ENST00000398752:exon10:c.1284+1G>T;ENST00000586592:exon10:c.1620+1G>T;ENST00000590665:exon10:c.1218+1G>T;ENST00000590156:exon10:c.1357+1G>T;ENST00000592364:exon6:c.391+1G>T)	.	.	0.999981760802075	0.94
18	43666352	C	G	18	46086386	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1134+1G>C;NM_001001935:exon10:c.1134+1G>C;NM_001257334:exon10:c.1218+1G>C;NM_004046:exon10:c.1284+1G>C;NM_001001937:exon11:c.1284+1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1284+1G>C;ENST00000593152:exon10:c.1134+1G>C;ENST00000398752:exon10:c.1284+1G>C;ENST00000586592:exon10:c.1620+1G>C;ENST00000590665:exon10:c.1218+1G>C;ENST00000590156:exon10:c.1357+1G>C;ENST00000592364:exon6:c.391+1G>C)	.	.	0.999981760802075	0.94
18	43666352	C	T	18	46086386	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1134+1G>A;NM_001001935:exon10:c.1134+1G>A;NM_001257334:exon10:c.1218+1G>A;NM_004046:exon10:c.1284+1G>A;NM_001001937:exon11:c.1284+1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1284+1G>A;ENST00000593152:exon10:c.1134+1G>A;ENST00000398752:exon10:c.1284+1G>A;ENST00000586592:exon10:c.1620+1G>A;ENST00000590665:exon10:c.1218+1G>A;ENST00000590156:exon10:c.1357+1G>A;ENST00000592364:exon6:c.391+1G>A)	.	.	0.999981760802075	0.94
18	43666353	C	A	18	46086387	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.G1134T:p.Q378H;ATP5A1:NM_001001937:exon10:c.G1284T:p.Q428H;ATP5A1:NM_001257334:exon9:c.G1218T:p.Q406H;ATP5A1:NM_001001935:exon9:c.G1134T:p.Q378H;ATP5A1:NM_004046:exon9:c.G1284T:p.Q428H;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.G1218T:p.Q406H;ENSG00000152234:ENST00000398752:exon9:c.G1284T:p.Q428H;ENSG00000152234:ENST00000282050:exon10:c.G1284T:p.Q428H;ENSG00000152234:ENST00000593152:exon9:c.G1134T:p.Q378H;	0.999968713416925	0.996
18	43666353	C	G	18	46086387	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.G1134C:p.Q378H;ATP5A1:NM_001001937:exon10:c.G1284C:p.Q428H;ATP5A1:NM_001257334:exon9:c.G1218C:p.Q406H;ATP5A1:NM_001001935:exon9:c.G1134C:p.Q378H;ATP5A1:NM_004046:exon9:c.G1284C:p.Q428H;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.G1218C:p.Q406H;ENSG00000152234:ENST00000398752:exon9:c.G1284C:p.Q428H;ENSG00000152234:ENST00000282050:exon10:c.G1284C:p.Q428H;ENSG00000152234:ENST00000593152:exon9:c.G1134C:p.Q378H;	0.999995687653638	1.0
18	43666353	C	T	18	46086387	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon9:c.G1134A:p.Q378Q;ATP5A1:NM_001001937:exon10:c.G1284A:p.Q428Q;ATP5A1:NM_001257334:exon9:c.G1218A:p.Q406Q;ATP5A1:NM_001001935:exon9:c.G1134A:p.Q378Q;ATP5A1:NM_004046:exon9:c.G1284A:p.Q428Q;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.G1218A:p.Q406Q;ENSG00000152234:ENST00000398752:exon9:c.G1284A:p.Q428Q;ENSG00000152234:ENST00000282050:exon10:c.G1284A:p.Q428Q;ENSG00000152234:ENST00000593152:exon9:c.G1134A:p.Q378Q;	0.999514121496266	0.998
18	43666354	T	A	18	46086388	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.A1133T:p.Q378L;ATP5A1:NM_001001937:exon10:c.A1283T:p.Q428L;ATP5A1:NM_001257334:exon9:c.A1217T:p.Q406L;ATP5A1:NM_001001935:exon9:c.A1133T:p.Q378L;ATP5A1:NM_004046:exon9:c.A1283T:p.Q428L;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.A1217T:p.Q406L;ENSG00000152234:ENST00000398752:exon9:c.A1283T:p.Q428L;ENSG00000152234:ENST00000282050:exon10:c.A1283T:p.Q428L;ENSG00000152234:ENST00000593152:exon9:c.A1133T:p.Q378L;	0.999781291289995	0.99
18	43666354	T	C	18	46086388	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.A1133G:p.Q378R;ATP5A1:NM_001001937:exon10:c.A1283G:p.Q428R;ATP5A1:NM_001257334:exon9:c.A1217G:p.Q406R;ATP5A1:NM_001001935:exon9:c.A1133G:p.Q378R;ATP5A1:NM_004046:exon9:c.A1283G:p.Q428R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.A1217G:p.Q406R;ENSG00000152234:ENST00000398752:exon9:c.A1283G:p.Q428R;ENSG00000152234:ENST00000282050:exon10:c.A1283G:p.Q428R;ENSG00000152234:ENST00000593152:exon9:c.A1133G:p.Q378R;	0.999279714889976	0.99
18	43666354	T	G	18	46086388	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.A1133C:p.Q378P;ATP5A1:NM_001001937:exon10:c.A1283C:p.Q428P;ATP5A1:NM_001257334:exon9:c.A1217C:p.Q406P;ATP5A1:NM_001001935:exon9:c.A1133C:p.Q378P;ATP5A1:NM_004046:exon9:c.A1283C:p.Q428P;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.A1217C:p.Q406P;ENSG00000152234:ENST00000398752:exon9:c.A1283C:p.Q428P;ENSG00000152234:ENST00000282050:exon10:c.A1283C:p.Q428P;ENSG00000152234:ENST00000593152:exon9:c.A1133C:p.Q378P;	0.996998466778021	0.92
18	43666355	G	A	18	46086389	y	y	exonic	ATP5A1	stopgain SNV	ATP5A1:NM_001257335:exon9:c.C1132T:p.Q378X;ATP5A1:NM_001001937:exon10:c.C1282T:p.Q428X;ATP5A1:NM_001257334:exon9:c.C1216T:p.Q406X;ATP5A1:NM_001001935:exon9:c.C1132T:p.Q378X;ATP5A1:NM_004046:exon9:c.C1282T:p.Q428X;	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590665:exon9:c.C1216T:p.Q406X;ENSG00000152234:ENST00000398752:exon9:c.C1282T:p.Q428X;ENSG00000152234:ENST00000282050:exon10:c.C1282T:p.Q428X;ENSG00000152234:ENST00000593152:exon9:c.C1132T:p.Q378X;	0.998550434707229	0.902
18	43666355	G	C	18	46086389	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.C1132G:p.Q378E;ATP5A1:NM_001001937:exon10:c.C1282G:p.Q428E;ATP5A1:NM_001257334:exon9:c.C1216G:p.Q406E;ATP5A1:NM_001001935:exon9:c.C1132G:p.Q378E;ATP5A1:NM_004046:exon9:c.C1282G:p.Q428E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.C1216G:p.Q406E;ENSG00000152234:ENST00000398752:exon9:c.C1282G:p.Q428E;ENSG00000152234:ENST00000282050:exon10:c.C1282G:p.Q428E;ENSG00000152234:ENST00000593152:exon9:c.C1132G:p.Q378E;	0.438655688009725	0.562
18	43666355	G	T	18	46086389	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.C1132A:p.Q378K;ATP5A1:NM_001001937:exon10:c.C1282A:p.Q428K;ATP5A1:NM_001257334:exon9:c.C1216A:p.Q406K;ATP5A1:NM_001001935:exon9:c.C1132A:p.Q378K;ATP5A1:NM_004046:exon9:c.C1282A:p.Q428K;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.C1216A:p.Q406K;ENSG00000152234:ENST00000398752:exon9:c.C1282A:p.Q428K;ENSG00000152234:ENST00000282050:exon10:c.C1282A:p.Q428K;ENSG00000152234:ENST00000593152:exon9:c.C1132A:p.Q378K;	0.674174877620356	0.77
18	43666459	A	C	18	46086493	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.T1028G:p.I343S;ATP5A1:NM_001001937:exon10:c.T1178G:p.I393S;ATP5A1:NM_001257334:exon9:c.T1112G:p.I371S;ATP5A1:NM_001001935:exon9:c.T1028G:p.I343S;ATP5A1:NM_004046:exon9:c.T1178G:p.I393S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.T1112G:p.I371S;ENSG00000152234:ENST00000398752:exon9:c.T1178G:p.I393S;ENSG00000152234:ENST00000282050:exon10:c.T1178G:p.I393S;ENSG00000152234:ENST00000593152:exon9:c.T1028G:p.I343S;	0.199073847055735	0.388
18	43666459	A	G	18	46086493	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.T1028C:p.I343T;ATP5A1:NM_001001937:exon10:c.T1178C:p.I393T;ATP5A1:NM_001257334:exon9:c.T1112C:p.I371T;ATP5A1:NM_001001935:exon9:c.T1028C:p.I343T;ATP5A1:NM_004046:exon9:c.T1178C:p.I393T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.T1112C:p.I371T;ENSG00000152234:ENST00000398752:exon9:c.T1178C:p.I393T;ENSG00000152234:ENST00000282050:exon10:c.T1178C:p.I393T;ENSG00000152234:ENST00000593152:exon9:c.T1028C:p.I343T;	0.105205908574143	0.346
18	43666459	A	T	18	46086493	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.T1028A:p.I343N;ATP5A1:NM_001001937:exon10:c.T1178A:p.I393N;ATP5A1:NM_001257334:exon9:c.T1112A:p.I371N;ATP5A1:NM_001001935:exon9:c.T1028A:p.I343N;ATP5A1:NM_004046:exon9:c.T1178A:p.I393N;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.T1112A:p.I371N;ENSG00000152234:ENST00000398752:exon9:c.T1178A:p.I393N;ENSG00000152234:ENST00000282050:exon10:c.T1178A:p.I393N;ENSG00000152234:ENST00000593152:exon9:c.T1028A:p.I343N;	0.149479839058476	0.336
18	43666460	T	A	18	46086494	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.A1027T:p.I343F;ATP5A1:NM_001001937:exon10:c.A1177T:p.I393F;ATP5A1:NM_001257334:exon9:c.A1111T:p.I371F;ATP5A1:NM_001001935:exon9:c.A1027T:p.I343F;ATP5A1:NM_004046:exon9:c.A1177T:p.I393F;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.A1111T:p.I371F;ENSG00000152234:ENST00000398752:exon9:c.A1177T:p.I393F;ENSG00000152234:ENST00000282050:exon10:c.A1177T:p.I393F;ENSG00000152234:ENST00000593152:exon9:c.A1027T:p.I343F;	0.217305981309753	0.444
18	43666460	T	C	18	46086494	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.A1027G:p.I343V;ATP5A1:NM_001001937:exon10:c.A1177G:p.I393V;ATP5A1:NM_001257334:exon9:c.A1111G:p.I371V;ATP5A1:NM_001001935:exon9:c.A1027G:p.I343V;ATP5A1:NM_004046:exon9:c.A1177G:p.I393V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.A1111G:p.I371V;ENSG00000152234:ENST00000398752:exon9:c.A1177G:p.I393V;ENSG00000152234:ENST00000282050:exon10:c.A1177G:p.I393V;ENSG00000152234:ENST00000593152:exon9:c.A1027G:p.I343V;	0.225389089673341	0.448
18	43666460	T	G	18	46086494	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon9:c.A1027C:p.I343L;ATP5A1:NM_001001937:exon10:c.A1177C:p.I393L;ATP5A1:NM_001257334:exon9:c.A1111C:p.I371L;ATP5A1:NM_001001935:exon9:c.A1027C:p.I343L;ATP5A1:NM_004046:exon9:c.A1177C:p.I393L;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon9:c.A1111C:p.I371L;ENSG00000152234:ENST00000398752:exon9:c.A1177C:p.I393L;ENSG00000152234:ENST00000282050:exon10:c.A1177C:p.I393L;ENSG00000152234:ENST00000593152:exon9:c.A1027C:p.I343L;	0.161020381634785	0.434
18	43666461	C	A	18	46086495	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1027-1G>T;NM_001001935:exon10:c.1027-1G>T;NM_001257334:exon10:c.1111-1G>T;NM_004046:exon10:c.1177-1G>T;NM_001001937:exon11:c.1177-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1177-1G>T;ENST00000593152:exon10:c.1027-1G>T;ENST00000398752:exon10:c.1177-1G>T;ENST00000586592:exon10:c.1513-1G>T;ENST00000590665:exon10:c.1111-1G>T;ENST00000590156:exon10:c.1250-1G>T;ENST00000592364:exon6:c.284-1G>T)	.	.	0.999986675681007	0.944
18	43666461	C	G	18	46086495	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1027-1G>C;NM_001001935:exon10:c.1027-1G>C;NM_001257334:exon10:c.1111-1G>C;NM_004046:exon10:c.1177-1G>C;NM_001001937:exon11:c.1177-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1177-1G>C;ENST00000593152:exon10:c.1027-1G>C;ENST00000398752:exon10:c.1177-1G>C;ENST00000586592:exon10:c.1513-1G>C;ENST00000590665:exon10:c.1111-1G>C;ENST00000590156:exon10:c.1250-1G>C;ENST00000592364:exon6:c.284-1G>C)	.	.	0.999986675681007	0.944
18	43666461	C	T	18	46086495	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1027-1G>A;NM_001001935:exon10:c.1027-1G>A;NM_001257334:exon10:c.1111-1G>A;NM_004046:exon10:c.1177-1G>A;NM_001001937:exon11:c.1177-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1177-1G>A;ENST00000593152:exon10:c.1027-1G>A;ENST00000398752:exon10:c.1177-1G>A;ENST00000586592:exon10:c.1513-1G>A;ENST00000590665:exon10:c.1111-1G>A;ENST00000590156:exon10:c.1250-1G>A;ENST00000592364:exon6:c.284-1G>A)	.	.	0.999986675681007	0.944
18	43666462	T	A	18	46086496	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1027-2A>T;NM_001001935:exon10:c.1027-2A>T;NM_001257334:exon10:c.1111-2A>T;NM_004046:exon10:c.1177-2A>T;NM_001001937:exon11:c.1177-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1177-2A>T;ENST00000593152:exon10:c.1027-2A>T;ENST00000398752:exon10:c.1177-2A>T;ENST00000586592:exon10:c.1513-2A>T;ENST00000590665:exon10:c.1111-2A>T;ENST00000590156:exon10:c.1250-2A>T;ENST00000592364:exon6:c.284-2A>T)	.	.	0.999989917668626	0.932
18	43666462	T	C	18	46086496	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1027-2A>G;NM_001001935:exon10:c.1027-2A>G;NM_001257334:exon10:c.1111-2A>G;NM_004046:exon10:c.1177-2A>G;NM_001001937:exon11:c.1177-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1177-2A>G;ENST00000593152:exon10:c.1027-2A>G;ENST00000398752:exon10:c.1177-2A>G;ENST00000586592:exon10:c.1513-2A>G;ENST00000590665:exon10:c.1111-2A>G;ENST00000590156:exon10:c.1250-2A>G;ENST00000592364:exon6:c.284-2A>G)	.	.	0.999989917668626	0.932
18	43666462	T	G	18	46086496	y	y	splicing	ATP5A1(NM_001257335:exon10:c.1027-2A>C;NM_001001935:exon10:c.1027-2A>C;NM_001257334:exon10:c.1111-2A>C;NM_004046:exon10:c.1177-2A>C;NM_001001937:exon11:c.1177-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon11:c.1177-2A>C;ENST00000593152:exon10:c.1027-2A>C;ENST00000398752:exon10:c.1177-2A>C;ENST00000586592:exon10:c.1513-2A>C;ENST00000590665:exon10:c.1111-2A>C;ENST00000590156:exon10:c.1250-2A>C;ENST00000592364:exon6:c.284-2A>C)	.	.	0.999989917668626	0.932
18	43666463	A	C	18	46086497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.995625190758572	0.736
18	43666463	A	G	18	46086497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.12705331041572E-4	0.02
18	43666463	A	T	18	46086497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0995930743205917	0.356
18	43666464	T	A	18	46086498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.14544129755338E-5	0.0
18	43666464	T	C	18	46086498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.68232320915263E-4	0.038
18	43666464	T	G	18	46086498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.80271208892263E-5	0.01
18	43666465	A	C	18	46086499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.405508704657323	0.474
18	43666465	A	G	18	46086499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00580633416988853	0.072
18	43666465	A	T	18	46086499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.808126553675981	0.474
18	43666466	A	C	18	46086500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999926171723936	0.968
18	43666466	A	G	18	46086500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.08749345961787E-4	0.02
18	43666466	A	T	18	46086500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.299527257444737	0.416
18	43666467	T	A	18	46086501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.26075798717558E-5	0.0
18	43666467	T	C	18	46086501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.44847827846911E-5	0.0
18	43666467	T	G	18	46086501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.4495777165325E-5	0.008
18	43666468	G	A	18	46086502	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.18581913092977E-5	0.0
18	43666468	G	C	18	46086502	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.996377741324867	0.914
18	43666468	G	T	18	46086502	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.16186616639584E-4	0.024
18	43666469	T	A	18	46086503	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.6354109020118E-5	0.002
18	43666469	T	C	18	46086503	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.32623698563966E-5	0.0
18	43666469	T	G	18	46086503	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.30031896342098E-5	0.0
18	43666470	A	C	18	46086504	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.271512495544611	0.498
18	43666470	A	G	18	46086504	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00202578506519822	0.152
18	43666470	A	T	18	46086504	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0190434115172559	0.412
18	43666471	A	C	18	46086505	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.420339661833784	0.504
18	43666471	A	G	18	46086505	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00179961630068456	0.132
18	43666471	A	T	18	46086505	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.141962153968393	0.504
18	43666472	G	A	18	46086506	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.55908716824608E-5	0.0
18	43666472	G	C	18	46086506	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.63044754364549E-4	0.044
18	43666472	G	T	18	46086506	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.44302448662735E-4	0.032
18	43666966	A	C	18	46087000	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.86018684096292E-5	0.004
18	43666966	A	G	18	46087000	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.91592801312455E-5	0.0
18	43666966	A	T	18	46087000	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.44899935311405E-5	0.0
18	43666967	A	C	18	46087001	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.05307942251884E-5	0.002
18	43666967	A	G	18	46087001	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.05307942251884E-5	0.002
18	43666967	A	T	18	46087001	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.90441620685319E-5	0.0
18	43666968	T	A	18	46087002	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.45454373326204E-5	0.014
18	43666968	T	C	18	46087002	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.63833659784808E-5	0.016
18	43666968	T	G	18	46087002	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.0338783070403E-5	0.048
18	43666969	A	C	18	46087003	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.72886244240485E-4	0.122
18	43666969	A	G	18	46087003	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.94072112694329E-5	0.01
18	43666969	A	T	18	46087003	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.16768605700569E-5	0.012
18	43666970	A	C	18	46087004	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.49786619355396E-4	0.072
18	43666970	A	G	18	46087004	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.17246496461593E-5	0.0
18	43666970	A	T	18	46087004	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.34157378637461E-5	0.01
18	43666971	T	A	18	46087005	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999961151190357	0.98
18	43666971	T	C	18	46087005	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999827982159954	0.928
18	43666971	T	G	18	46087005	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999949112636603	0.976
18	43666972	A	C	18	46087006	y	y	splicing	ATP5A1(NM_001257335:exon9:c.1026+2T>G;NM_001001935:exon9:c.1026+2T>G;NM_001257334:exon9:c.1110+2T>G;NM_004046:exon9:c.1176+2T>G;NM_001001937:exon10:c.1176+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.1176+2T>G;ENST00000593152:exon9:c.1026+2T>G;ENST00000398752:exon9:c.1176+2T>G;ENST00000586592:exon9:c.1512+2T>G;ENST00000590665:exon9:c.1110+2T>G;ENST00000590156:exon9:c.1249+2T>G;ENST00000592364:exon5:c.283+2T>G)	.	.	0.999990155693597	0.928
18	43666972	A	G	18	46087006	y	y	splicing	ATP5A1(NM_001257335:exon9:c.1026+2T>C;NM_001001935:exon9:c.1026+2T>C;NM_001257334:exon9:c.1110+2T>C;NM_004046:exon9:c.1176+2T>C;NM_001001937:exon10:c.1176+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.1176+2T>C;ENST00000593152:exon9:c.1026+2T>C;ENST00000398752:exon9:c.1176+2T>C;ENST00000586592:exon9:c.1512+2T>C;ENST00000590665:exon9:c.1110+2T>C;ENST00000590156:exon9:c.1249+2T>C;ENST00000592364:exon5:c.283+2T>C)	.	.	0.985197608939818	0.598
18	43666972	A	T	18	46087006	y	y	splicing	ATP5A1(NM_001257335:exon9:c.1026+2T>A;NM_001001935:exon9:c.1026+2T>A;NM_001257334:exon9:c.1110+2T>A;NM_004046:exon9:c.1176+2T>A;NM_001001937:exon10:c.1176+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.1176+2T>A;ENST00000593152:exon9:c.1026+2T>A;ENST00000398752:exon9:c.1176+2T>A;ENST00000586592:exon9:c.1512+2T>A;ENST00000590665:exon9:c.1110+2T>A;ENST00000590156:exon9:c.1249+2T>A;ENST00000592364:exon5:c.283+2T>A)	.	.	0.999990155693597	0.93
18	43666973	C	A	18	46087007	y	y	splicing	ATP5A1(NM_001257335:exon9:c.1026+1G>T;NM_001001935:exon9:c.1026+1G>T;NM_001257334:exon9:c.1110+1G>T;NM_004046:exon9:c.1176+1G>T;NM_001001937:exon10:c.1176+1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.1176+1G>T;ENST00000593152:exon9:c.1026+1G>T;ENST00000398752:exon9:c.1176+1G>T;ENST00000586592:exon9:c.1512+1G>T;ENST00000590665:exon9:c.1110+1G>T;ENST00000590156:exon9:c.1249+1G>T;ENST00000592364:exon5:c.283+1G>T)	.	.	0.999986675681007	0.938
18	43666973	C	G	18	46087007	y	y	splicing	ATP5A1(NM_001257335:exon9:c.1026+1G>C;NM_001001935:exon9:c.1026+1G>C;NM_001257334:exon9:c.1110+1G>C;NM_004046:exon9:c.1176+1G>C;NM_001001937:exon10:c.1176+1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.1176+1G>C;ENST00000593152:exon9:c.1026+1G>C;ENST00000398752:exon9:c.1176+1G>C;ENST00000586592:exon9:c.1512+1G>C;ENST00000590665:exon9:c.1110+1G>C;ENST00000590156:exon9:c.1249+1G>C;ENST00000592364:exon5:c.283+1G>C)	.	.	0.999986675681007	0.938
18	43666973	C	T	18	46087007	y	y	splicing	ATP5A1(NM_001257335:exon9:c.1026+1G>A;NM_001001935:exon9:c.1026+1G>A;NM_001257334:exon9:c.1110+1G>A;NM_004046:exon9:c.1176+1G>A;NM_001001937:exon10:c.1176+1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.1176+1G>A;ENST00000593152:exon9:c.1026+1G>A;ENST00000398752:exon9:c.1176+1G>A;ENST00000586592:exon9:c.1512+1G>A;ENST00000590665:exon9:c.1110+1G>A;ENST00000590156:exon9:c.1249+1G>A;ENST00000592364:exon5:c.283+1G>A)	.	.	0.999986675681007	0.938
18	43666974	C	A	18	46087008	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.G1026T:p.Q342H;ATP5A1:NM_001001937:exon9:c.G1176T:p.Q392H;ATP5A1:NM_001257334:exon8:c.G1110T:p.Q370H;ATP5A1:NM_001001935:exon8:c.G1026T:p.Q342H;ATP5A1:NM_004046:exon8:c.G1176T:p.Q392H;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.G1110T:p.Q370H;ENSG00000152234:ENST00000398752:exon8:c.G1176T:p.Q392H;ENSG00000152234:ENST00000282050:exon9:c.G1176T:p.Q392H;ENSG00000152234:ENST00000593152:exon8:c.G1026T:p.Q342H;	0.999992581621154	0.972
18	43666974	C	G	18	46087008	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.G1026C:p.Q342H;ATP5A1:NM_001001937:exon9:c.G1176C:p.Q392H;ATP5A1:NM_001257334:exon8:c.G1110C:p.Q370H;ATP5A1:NM_001001935:exon8:c.G1026C:p.Q342H;ATP5A1:NM_004046:exon8:c.G1176C:p.Q392H;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.G1110C:p.Q370H;ENSG00000152234:ENST00000398752:exon8:c.G1176C:p.Q392H;ENSG00000152234:ENST00000282050:exon9:c.G1176C:p.Q392H;ENSG00000152234:ENST00000593152:exon8:c.G1026C:p.Q342H;	0.999997627706868	1.0
18	43666974	C	T	18	46087008	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon8:c.G1026A:p.Q342Q;ATP5A1:NM_001001937:exon9:c.G1176A:p.Q392Q;ATP5A1:NM_001257334:exon8:c.G1110A:p.Q370Q;ATP5A1:NM_001001935:exon8:c.G1026A:p.Q342Q;ATP5A1:NM_004046:exon8:c.G1176A:p.Q392Q;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.G1110A:p.Q370Q;ENSG00000152234:ENST00000398752:exon8:c.G1176A:p.Q392Q;ENSG00000152234:ENST00000282050:exon9:c.G1176A:p.Q392Q;ENSG00000152234:ENST00000593152:exon8:c.G1026A:p.Q342Q;	0.999986573519326	0.988
18	43666975	T	A	18	46087009	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.A1025T:p.Q342L;ATP5A1:NM_001001937:exon9:c.A1175T:p.Q392L;ATP5A1:NM_001257334:exon8:c.A1109T:p.Q370L;ATP5A1:NM_001001935:exon8:c.A1025T:p.Q342L;ATP5A1:NM_004046:exon8:c.A1175T:p.Q392L;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.A1109T:p.Q370L;ENSG00000152234:ENST00000398752:exon8:c.A1175T:p.Q392L;ENSG00000152234:ENST00000282050:exon9:c.A1175T:p.Q392L;ENSG00000152234:ENST00000593152:exon8:c.A1025T:p.Q342L;	0.999965833894037	0.998
18	43666975	T	C	18	46087009	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.A1025G:p.Q342R;ATP5A1:NM_001001937:exon9:c.A1175G:p.Q392R;ATP5A1:NM_001257334:exon8:c.A1109G:p.Q370R;ATP5A1:NM_001001935:exon8:c.A1025G:p.Q342R;ATP5A1:NM_004046:exon8:c.A1175G:p.Q392R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.A1109G:p.Q370R;ENSG00000152234:ENST00000398752:exon8:c.A1175G:p.Q392R;ENSG00000152234:ENST00000282050:exon9:c.A1175G:p.Q392R;ENSG00000152234:ENST00000593152:exon8:c.A1025G:p.Q342R;	0.999921390134913	0.998
18	43666975	T	G	18	46087009	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.A1025C:p.Q342P;ATP5A1:NM_001001937:exon9:c.A1175C:p.Q392P;ATP5A1:NM_001257334:exon8:c.A1109C:p.Q370P;ATP5A1:NM_001001935:exon8:c.A1025C:p.Q342P;ATP5A1:NM_004046:exon8:c.A1175C:p.Q392P;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.A1109C:p.Q370P;ENSG00000152234:ENST00000398752:exon8:c.A1175C:p.Q392P;ENSG00000152234:ENST00000282050:exon9:c.A1175C:p.Q392P;ENSG00000152234:ENST00000593152:exon8:c.A1025C:p.Q342P;	0.999900516904079	1.0
18	43666976	G	A	18	46087010	y	y	exonic	ATP5A1	stopgain SNV	ATP5A1:NM_001257335:exon8:c.C1024T:p.Q342X;ATP5A1:NM_001001937:exon9:c.C1174T:p.Q392X;ATP5A1:NM_001257334:exon8:c.C1108T:p.Q370X;ATP5A1:NM_001001935:exon8:c.C1024T:p.Q342X;ATP5A1:NM_004046:exon8:c.C1174T:p.Q392X;	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590665:exon8:c.C1108T:p.Q370X;ENSG00000152234:ENST00000398752:exon8:c.C1174T:p.Q392X;ENSG00000152234:ENST00000282050:exon9:c.C1174T:p.Q392X;ENSG00000152234:ENST00000593152:exon8:c.C1024T:p.Q342X;	0.999444637887064	0.95
18	43666976	G	C	18	46087010	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.C1024G:p.Q342E;ATP5A1:NM_001001937:exon9:c.C1174G:p.Q392E;ATP5A1:NM_001257334:exon8:c.C1108G:p.Q370E;ATP5A1:NM_001001935:exon8:c.C1024G:p.Q342E;ATP5A1:NM_004046:exon8:c.C1174G:p.Q392E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.C1108G:p.Q370E;ENSG00000152234:ENST00000398752:exon8:c.C1174G:p.Q392E;ENSG00000152234:ENST00000282050:exon9:c.C1174G:p.Q392E;ENSG00000152234:ENST00000593152:exon8:c.C1024G:p.Q342E;	0.733880307059564	0.596
18	43666976	G	T	18	46087010	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.C1024A:p.Q342K;ATP5A1:NM_001001937:exon9:c.C1174A:p.Q392K;ATP5A1:NM_001257334:exon8:c.C1108A:p.Q370K;ATP5A1:NM_001001935:exon8:c.C1024A:p.Q342K;ATP5A1:NM_004046:exon8:c.C1174A:p.Q392K;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.C1108A:p.Q370K;ENSG00000152234:ENST00000398752:exon8:c.C1174A:p.Q392K;ENSG00000152234:ENST00000282050:exon9:c.C1174A:p.Q392K;ENSG00000152234:ENST00000593152:exon8:c.C1024A:p.Q342K;	0.569113231430121	0.626
18	43667197	G	A	18	46087231	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.C803T:p.A268V;ATP5A1:NM_001001937:exon9:c.C953T:p.A318V;ATP5A1:NM_001257334:exon8:c.C887T:p.A296V;ATP5A1:NM_001001935:exon8:c.C803T:p.A268V;ATP5A1:NM_004046:exon8:c.C953T:p.A318V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.C887T:p.A296V;ENSG00000152234:ENST00000398752:exon8:c.C953T:p.A318V;ENSG00000152234:ENST00000282050:exon9:c.C953T:p.A318V;ENSG00000152234:ENST00000593152:exon8:c.C803T:p.A268V;	0.846889623744661	0.834
18	43667197	G	C	18	46087231	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.C803G:p.A268G;ATP5A1:NM_001001937:exon9:c.C953G:p.A318G;ATP5A1:NM_001257334:exon8:c.C887G:p.A296G;ATP5A1:NM_001001935:exon8:c.C803G:p.A268G;ATP5A1:NM_004046:exon8:c.C953G:p.A318G;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.C887G:p.A296G;ENSG00000152234:ENST00000398752:exon8:c.C953G:p.A318G;ENSG00000152234:ENST00000282050:exon9:c.C953G:p.A318G;ENSG00000152234:ENST00000593152:exon8:c.C803G:p.A268G;	0.699319672792196	0.724
18	43667197	G	T	18	46087231	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.C803A:p.A268D;ATP5A1:NM_001001937:exon9:c.C953A:p.A318D;ATP5A1:NM_001257334:exon8:c.C887A:p.A296D;ATP5A1:NM_001001935:exon8:c.C803A:p.A268D;ATP5A1:NM_004046:exon8:c.C953A:p.A318D;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.C887A:p.A296D;ENSG00000152234:ENST00000398752:exon8:c.C953A:p.A318D;ENSG00000152234:ENST00000282050:exon9:c.C953A:p.A318D;ENSG00000152234:ENST00000593152:exon8:c.C803A:p.A268D;	0.840279629525133	0.78
18	43667198	C	A	18	46087232	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.G802T:p.A268S;ATP5A1:NM_001001937:exon9:c.G952T:p.A318S;ATP5A1:NM_001257334:exon8:c.G886T:p.A296S;ATP5A1:NM_001001935:exon8:c.G802T:p.A268S;ATP5A1:NM_004046:exon8:c.G952T:p.A318S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.G886T:p.A296S;ENSG00000152234:ENST00000398752:exon8:c.G952T:p.A318S;ENSG00000152234:ENST00000282050:exon9:c.G952T:p.A318S;ENSG00000152234:ENST00000593152:exon8:c.G802T:p.A268S;	0.999850017716061	0.99
18	43667198	C	G	18	46087232	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.G802C:p.A268P;ATP5A1:NM_001001937:exon9:c.G952C:p.A318P;ATP5A1:NM_001257334:exon8:c.G886C:p.A296P;ATP5A1:NM_001001935:exon8:c.G802C:p.A268P;ATP5A1:NM_004046:exon8:c.G952C:p.A318P;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.G886C:p.A296P;ENSG00000152234:ENST00000398752:exon8:c.G952C:p.A318P;ENSG00000152234:ENST00000282050:exon9:c.G952C:p.A318P;ENSG00000152234:ENST00000593152:exon8:c.G802C:p.A268P;	0.999693411736277	0.988
18	43667198	C	T	18	46087232	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon8:c.G802A:p.A268T;ATP5A1:NM_001001937:exon9:c.G952A:p.A318T;ATP5A1:NM_001257334:exon8:c.G886A:p.A296T;ATP5A1:NM_001001935:exon8:c.G802A:p.A268T;ATP5A1:NM_004046:exon8:c.G952A:p.A318T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon8:c.G886A:p.A296T;ENSG00000152234:ENST00000398752:exon8:c.G952A:p.A318T;ENSG00000152234:ENST00000282050:exon9:c.G952A:p.A318T;ENSG00000152234:ENST00000593152:exon8:c.G802A:p.A268T;	0.992713514148663	0.872
18	43667199	C	A	18	46087233	y	y	splicing	ATP5A1(NM_001257335:exon9:c.802-1G>T;NM_001001935:exon9:c.802-1G>T;NM_001257334:exon9:c.886-1G>T;NM_004046:exon9:c.952-1G>T;NM_001001937:exon10:c.952-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.952-1G>T;ENST00000593152:exon9:c.802-1G>T;ENST00000398752:exon9:c.952-1G>T;ENST00000586592:exon9:c.1288-1G>T;ENST00000590665:exon9:c.886-1G>T;ENST00000590156:exon9:c.1025-1G>T)	.	.	0.999986675681007	0.93
18	43667199	C	G	18	46087233	y	y	splicing	ATP5A1(NM_001257335:exon9:c.802-1G>C;NM_001001935:exon9:c.802-1G>C;NM_001257334:exon9:c.886-1G>C;NM_004046:exon9:c.952-1G>C;NM_001001937:exon10:c.952-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.952-1G>C;ENST00000593152:exon9:c.802-1G>C;ENST00000398752:exon9:c.952-1G>C;ENST00000586592:exon9:c.1288-1G>C;ENST00000590665:exon9:c.886-1G>C;ENST00000590156:exon9:c.1025-1G>C)	.	.	0.999986675681007	0.93
18	43667199	C	T	18	46087233	y	y	splicing	ATP5A1(NM_001257335:exon9:c.802-1G>A;NM_001001935:exon9:c.802-1G>A;NM_001257334:exon9:c.886-1G>A;NM_004046:exon9:c.952-1G>A;NM_001001937:exon10:c.952-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.952-1G>A;ENST00000593152:exon9:c.802-1G>A;ENST00000398752:exon9:c.952-1G>A;ENST00000586592:exon9:c.1288-1G>A;ENST00000590665:exon9:c.886-1G>A;ENST00000590156:exon9:c.1025-1G>A)	.	.	0.999986675681007	0.932
18	43667200	T	A	18	46087234	y	y	splicing	ATP5A1(NM_001257335:exon9:c.802-2A>T;NM_001001935:exon9:c.802-2A>T;NM_001257334:exon9:c.886-2A>T;NM_004046:exon9:c.952-2A>T;NM_001001937:exon10:c.952-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.952-2A>T;ENST00000593152:exon9:c.802-2A>T;ENST00000398752:exon9:c.952-2A>T;ENST00000586592:exon9:c.1288-2A>T;ENST00000590665:exon9:c.886-2A>T;ENST00000590156:exon9:c.1025-2A>T)	.	.	0.999990155693597	0.924
18	43667200	T	C	18	46087234	y	y	splicing	ATP5A1(NM_001257335:exon9:c.802-2A>G;NM_001001935:exon9:c.802-2A>G;NM_001257334:exon9:c.886-2A>G;NM_004046:exon9:c.952-2A>G;NM_001001937:exon10:c.952-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.952-2A>G;ENST00000593152:exon9:c.802-2A>G;ENST00000398752:exon9:c.952-2A>G;ENST00000586592:exon9:c.1288-2A>G;ENST00000590665:exon9:c.886-2A>G;ENST00000590156:exon9:c.1025-2A>G)	.	.	0.999990155693597	0.924
18	43667200	T	G	18	46087234	y	y	splicing	ATP5A1(NM_001257335:exon9:c.802-2A>C;NM_001001935:exon9:c.802-2A>C;NM_001257334:exon9:c.886-2A>C;NM_004046:exon9:c.952-2A>C;NM_001001937:exon10:c.952-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon10:c.952-2A>C;ENST00000593152:exon9:c.802-2A>C;ENST00000398752:exon9:c.952-2A>C;ENST00000586592:exon9:c.1288-2A>C;ENST00000590665:exon9:c.886-2A>C;ENST00000590156:exon9:c.1025-2A>C)	.	.	0.999990155693597	0.924
18	43667201	A	C	18	46087235	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.99810751017311	0.716
18	43667201	A	G	18	46087235	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.06263556027085E-4	0.028
18	43667201	A	T	18	46087235	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.174581234680389	0.458
18	43667202	T	A	18	46087236	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.36276700921022E-5	0.002
18	43667202	T	C	18	46087236	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.73242569864498E-6	0.0
18	43667202	T	G	18	46087236	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.6932650123287E-5	0.012
18	43667203	G	A	18	46087237	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.85011904950873E-5	0.008
18	43667203	G	C	18	46087237	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.75620543564568E-4	0.064
18	43667203	G	T	18	46087237	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.03755817915053E-4	0.064
18	43667204	G	A	18	46087238	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.31843701924029E-5	0.016
18	43667204	G	C	18	46087238	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999649983128203	0.926
18	43667204	G	T	18	46087238	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0209377859407594	0.298
18	43667205	T	A	18	46087239	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.65047354028333E-5	0.0
18	43667205	T	C	18	46087239	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.53929084429736E-6	0.004
18	43667205	T	G	18	46087239	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.40347652697844E-5	0.0
18	43667206	A	C	18	46087240	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.151106337239722	0.452
18	43667206	A	G	18	46087240	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.84664386590852E-5	0.032
18	43667206	A	T	18	46087240	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.354743297822402	0.352
18	43667207	C	A	18	46087241	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.02754041143724E-5	0.05
18	43667207	C	G	18	46087241	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.88991481711148E-5	0.006
18	43667207	C	T	18	46087241	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.664963191029E-5	0.028
18	43667208	A	C	18	46087242	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.752500855713895	0.588
18	43667208	A	G	18	46087242	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.69886283707917E-4	0.07
18	43667208	A	T	18	46087242	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.99992397332679	0.978
18	43667209	G	A	18	46087243	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.01611912952336E-5	0.0
18	43667209	G	C	18	46087243	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.79403025635819E-5	0.01
18	43667209	G	T	18	46087243	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.90024963556343E-4	0.026
18	43667210	A	C	18	46087244	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00390348057968093	0.264
18	43667210	A	G	18	46087244	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.20767222232141E-5	0.008
18	43667210	A	T	18	46087244	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00600276048344934	0.25
18	43667299	C	A	18	46087333	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.05626318764802E-4	0.0
18	43667299	C	G	18	46087333	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.98802702611551E-4	0.02
18	43667299	C	T	18	46087333	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.64788466589171E-4	0.014
18	43667300	C	A	18	46087334	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.90515542005755E-4	0.032
18	43667300	C	G	18	46087334	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.40741350089753E-5	0.0
18	43667300	C	T	18	46087334	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.06904314222228E-4	0.0
18	43667301	T	A	18	46087335	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.08622528780618E-5	0.128
18	43667301	T	C	18	46087335	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.98464589389794E-5	0.008
18	43667301	T	G	18	46087335	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00242778920650593	0.084
18	43667302	T	A	18	46087336	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.33874584346064E-4	0.038
18	43667302	T	C	18	46087336	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.34831160304863E-4	0.016
18	43667302	T	G	18	46087336	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.49402028766602E-4	0.05
18	43667303	T	A	18	46087337	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999345184361419	0.746
18	43667303	T	C	18	46087337	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999340366117039	0.762
18	43667303	T	G	18	46087337	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.998886902798167	0.714
18	43667304	G	A	18	46087338	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.12063634691075E-4	0.008
18	43667304	G	C	18	46087338	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.07619800737243E-4	0.062
18	43667304	G	T	18	46087338	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.1767121818983E-4	0.106
18	43667305	A	C	18	46087339	y	y	splicing	ATP5A1(NM_001257335:exon8:c.801+2T>G;NM_001001935:exon8:c.801+2T>G;NM_001257334:exon8:c.885+2T>G;NM_004046:exon8:c.951+2T>G;NM_001001937:exon9:c.951+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.951+2T>G;ENST00000593152:exon8:c.801+2T>G;ENST00000398752:exon8:c.951+2T>G;ENST00000586592:exon8:c.1287+2T>G;ENST00000590665:exon8:c.885+2T>G;ENST00000590156:exon8:c.1024+2T>G)	.	.	0.999988893522493	0.938
18	43667305	A	G	18	46087339	y	y	splicing	ATP5A1(NM_001257335:exon8:c.801+2T>C;NM_001001935:exon8:c.801+2T>C;NM_001257334:exon8:c.885+2T>C;NM_004046:exon8:c.951+2T>C;NM_001001937:exon9:c.951+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.951+2T>C;ENST00000593152:exon8:c.801+2T>C;ENST00000398752:exon8:c.951+2T>C;ENST00000586592:exon8:c.1287+2T>C;ENST00000590665:exon8:c.885+2T>C;ENST00000590156:exon8:c.1024+2T>C)	.	.	0.999891240960682	0.894
18	43667305	A	T	18	46087339	y	y	splicing	ATP5A1(NM_001257335:exon8:c.801+2T>A;NM_001001935:exon8:c.801+2T>A;NM_001257334:exon8:c.885+2T>A;NM_004046:exon8:c.951+2T>A;NM_001001937:exon9:c.951+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.951+2T>A;ENST00000593152:exon8:c.801+2T>A;ENST00000398752:exon8:c.951+2T>A;ENST00000586592:exon8:c.1287+2T>A;ENST00000590665:exon8:c.885+2T>A;ENST00000590156:exon8:c.1024+2T>A)	.	.	0.999988893522493	0.938
18	43667306	C	A	18	46087340	y	y	splicing	ATP5A1(NM_001257335:exon8:c.801+1G>T;NM_001001935:exon8:c.801+1G>T;NM_001257334:exon8:c.885+1G>T;NM_004046:exon8:c.951+1G>T;NM_001001937:exon9:c.951+1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.951+1G>T;ENST00000593152:exon8:c.801+1G>T;ENST00000398752:exon8:c.951+1G>T;ENST00000586592:exon8:c.1287+1G>T;ENST00000590665:exon8:c.885+1G>T;ENST00000590156:exon8:c.1024+1G>T)	.	.	0.999984967332678	0.948
18	43667306	C	G	18	46087340	y	y	splicing	ATP5A1(NM_001257335:exon8:c.801+1G>C;NM_001001935:exon8:c.801+1G>C;NM_001257334:exon8:c.885+1G>C;NM_004046:exon8:c.951+1G>C;NM_001001937:exon9:c.951+1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.951+1G>C;ENST00000593152:exon8:c.801+1G>C;ENST00000398752:exon8:c.951+1G>C;ENST00000586592:exon8:c.1287+1G>C;ENST00000590665:exon8:c.885+1G>C;ENST00000590156:exon8:c.1024+1G>C)	.	.	0.999984967332678	0.948
18	43667306	C	T	18	46087340	y	y	splicing	ATP5A1(NM_001257335:exon8:c.801+1G>A;NM_001001935:exon8:c.801+1G>A;NM_001257334:exon8:c.885+1G>A;NM_004046:exon8:c.951+1G>A;NM_001001937:exon9:c.951+1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.951+1G>A;ENST00000593152:exon8:c.801+1G>A;ENST00000398752:exon8:c.951+1G>A;ENST00000586592:exon8:c.1287+1G>A;ENST00000590665:exon8:c.885+1G>A;ENST00000590156:exon8:c.1024+1G>A)	.	.	0.999984967332678	0.948
18	43667307	C	A	18	46087341	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.G801T:p.Q267H;ATP5A1:NM_001001937:exon8:c.G951T:p.Q317H;ATP5A1:NM_001257334:exon7:c.G885T:p.Q295H;ATP5A1:NM_001001935:exon7:c.G801T:p.Q267H;ATP5A1:NM_004046:exon7:c.G951T:p.Q317H;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.G885T:p.Q295H;ENSG00000152234:ENST00000398752:exon7:c.G951T:p.Q317H;ENSG00000152234:ENST00000282050:exon8:c.G951T:p.Q317H;ENSG00000152234:ENST00000593152:exon7:c.G801T:p.Q267H;	0.999988292101478	0.998
18	43667307	C	G	18	46087341	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.G801C:p.Q267H;ATP5A1:NM_001001937:exon8:c.G951C:p.Q317H;ATP5A1:NM_001257334:exon7:c.G885C:p.Q295H;ATP5A1:NM_001001935:exon7:c.G801C:p.Q267H;ATP5A1:NM_004046:exon7:c.G951C:p.Q317H;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.G885C:p.Q295H;ENSG00000152234:ENST00000398752:exon7:c.G951C:p.Q317H;ENSG00000152234:ENST00000282050:exon8:c.G951C:p.Q317H;ENSG00000152234:ENST00000593152:exon7:c.G801C:p.Q267H;	0.999995813296176	1.0
18	43667307	C	T	18	46087341	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon7:c.G801A:p.Q267Q;ATP5A1:NM_001001937:exon8:c.G951A:p.Q317Q;ATP5A1:NM_001257334:exon7:c.G885A:p.Q295Q;ATP5A1:NM_001001935:exon7:c.G801A:p.Q267Q;ATP5A1:NM_004046:exon7:c.G951A:p.Q317Q;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.G885A:p.Q295Q;ENSG00000152234:ENST00000398752:exon7:c.G951A:p.Q317Q;ENSG00000152234:ENST00000282050:exon8:c.G951A:p.Q317Q;ENSG00000152234:ENST00000593152:exon7:c.G801A:p.Q267Q;	0.999988329797252	0.998
18	43667308	T	A	18	46087342	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.A800T:p.Q267L;ATP5A1:NM_001001937:exon8:c.A950T:p.Q317L;ATP5A1:NM_001257334:exon7:c.A884T:p.Q295L;ATP5A1:NM_001001935:exon7:c.A800T:p.Q267L;ATP5A1:NM_004046:exon7:c.A950T:p.Q317L;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.A884T:p.Q295L;ENSG00000152234:ENST00000398752:exon7:c.A950T:p.Q317L;ENSG00000152234:ENST00000282050:exon8:c.A950T:p.Q317L;ENSG00000152234:ENST00000593152:exon7:c.A800T:p.Q267L;	0.999945091686572	0.998
18	43667308	T	C	18	46087342	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.A800G:p.Q267R;ATP5A1:NM_001001937:exon8:c.A950G:p.Q317R;ATP5A1:NM_001257334:exon7:c.A884G:p.Q295R;ATP5A1:NM_001001935:exon7:c.A800G:p.Q267R;ATP5A1:NM_004046:exon7:c.A950G:p.Q317R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.A884G:p.Q295R;ENSG00000152234:ENST00000398752:exon7:c.A950G:p.Q317R;ENSG00000152234:ENST00000282050:exon8:c.A950G:p.Q317R;ENSG00000152234:ENST00000593152:exon7:c.A800G:p.Q267R;	0.999966317898175	0.996
18	43667308	T	G	18	46087342	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.A800C:p.Q267P;ATP5A1:NM_001001937:exon8:c.A950C:p.Q317P;ATP5A1:NM_001257334:exon7:c.A884C:p.Q295P;ATP5A1:NM_001001935:exon7:c.A800C:p.Q267P;ATP5A1:NM_004046:exon7:c.A950C:p.Q317P;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.A884C:p.Q295P;ENSG00000152234:ENST00000398752:exon7:c.A950C:p.Q317P;ENSG00000152234:ENST00000282050:exon8:c.A950C:p.Q317P;ENSG00000152234:ENST00000593152:exon7:c.A800C:p.Q267P;	0.999955618068459	0.996
18	43667309	G	A	18	46087343	y	y	exonic	ATP5A1	stopgain SNV	ATP5A1:NM_001257335:exon7:c.C799T:p.Q267X;ATP5A1:NM_001001937:exon8:c.C949T:p.Q317X;ATP5A1:NM_001257334:exon7:c.C883T:p.Q295X;ATP5A1:NM_001001935:exon7:c.C799T:p.Q267X;ATP5A1:NM_004046:exon7:c.C949T:p.Q317X;	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590665:exon7:c.C883T:p.Q295X;ENSG00000152234:ENST00000398752:exon7:c.C949T:p.Q317X;ENSG00000152234:ENST00000282050:exon8:c.C949T:p.Q317X;ENSG00000152234:ENST00000593152:exon7:c.C799T:p.Q267X;	0.999841385018007	0.962
18	43667309	G	C	18	46087343	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.C799G:p.Q267E;ATP5A1:NM_001001937:exon8:c.C949G:p.Q317E;ATP5A1:NM_001257334:exon7:c.C883G:p.Q295E;ATP5A1:NM_001001935:exon7:c.C799G:p.Q267E;ATP5A1:NM_004046:exon7:c.C949G:p.Q317E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.C883G:p.Q295E;ENSG00000152234:ENST00000398752:exon7:c.C949G:p.Q317E;ENSG00000152234:ENST00000282050:exon8:c.C949G:p.Q317E;ENSG00000152234:ENST00000593152:exon7:c.C799G:p.Q267E;	0.974778895754313	0.588
18	43667309	G	T	18	46087343	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.C799A:p.Q267K;ATP5A1:NM_001001937:exon8:c.C949A:p.Q317K;ATP5A1:NM_001257334:exon7:c.C883A:p.Q295K;ATP5A1:NM_001001935:exon7:c.C799A:p.Q267K;ATP5A1:NM_004046:exon7:c.C949A:p.Q317K;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.C883A:p.Q295K;ENSG00000152234:ENST00000398752:exon7:c.C949A:p.Q317K;ENSG00000152234:ENST00000282050:exon8:c.C949A:p.Q317K;ENSG00000152234:ENST00000593152:exon7:c.C799A:p.Q267K;	0.522694596753415	0.578
18	43667457	A	C	18	46087491	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.T651G:p.D217E;ATP5A1:NM_001001937:exon8:c.T801G:p.D267E;ATP5A1:NM_001257334:exon7:c.T735G:p.D245E;ATP5A1:NM_001001935:exon7:c.T651G:p.D217E;ATP5A1:NM_004046:exon7:c.T801G:p.D267E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.T735G:p.D245E;ENSG00000152234:ENST00000398752:exon7:c.T801G:p.D267E;ENSG00000152234:ENST00000282050:exon8:c.T801G:p.D267E;ENSG00000152234:ENST00000593152:exon7:c.T651G:p.D217E;ENSG00000152234:ENST00000589252:exon6:c.T534G:p.D178E;	0.0590469330209669	0.31
18	43667457	A	G	18	46087491	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon7:c.T651C:p.D217D;ATP5A1:NM_001001937:exon8:c.T801C:p.D267D;ATP5A1:NM_001257334:exon7:c.T735C:p.D245D;ATP5A1:NM_001001935:exon7:c.T651C:p.D217D;ATP5A1:NM_004046:exon7:c.T801C:p.D267D;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.T735C:p.D245D;ENSG00000152234:ENST00000398752:exon7:c.T801C:p.D267D;ENSG00000152234:ENST00000282050:exon8:c.T801C:p.D267D;ENSG00000152234:ENST00000593152:exon7:c.T651C:p.D217D;ENSG00000152234:ENST00000589252:exon6:c.T534C:p.D178D;	0.0368364562488006	0.152
18	43667457	A	T	18	46087491	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.T651A:p.D217E;ATP5A1:NM_001001937:exon8:c.T801A:p.D267E;ATP5A1:NM_001257334:exon7:c.T735A:p.D245E;ATP5A1:NM_001001935:exon7:c.T651A:p.D217E;ATP5A1:NM_004046:exon7:c.T801A:p.D267E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.T735A:p.D245E;ENSG00000152234:ENST00000398752:exon7:c.T801A:p.D267E;ENSG00000152234:ENST00000282050:exon8:c.T801A:p.D267E;ENSG00000152234:ENST00000593152:exon7:c.T651A:p.D217E;ENSG00000152234:ENST00000589252:exon6:c.T534A:p.D178E;	0.266278922574326	0.372
18	43667458	T	A	18	46087492	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.A650T:p.D217V;ATP5A1:NM_001001937:exon8:c.A800T:p.D267V;ATP5A1:NM_001257334:exon7:c.A734T:p.D245V;ATP5A1:NM_001001935:exon7:c.A650T:p.D217V;ATP5A1:NM_004046:exon7:c.A800T:p.D267V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.A734T:p.D245V;ENSG00000152234:ENST00000398752:exon7:c.A800T:p.D267V;ENSG00000152234:ENST00000282050:exon8:c.A800T:p.D267V;ENSG00000152234:ENST00000593152:exon7:c.A650T:p.D217V;ENSG00000152234:ENST00000589252:exon6:c.A533T:p.D178V;	0.242257254670285	0.464
18	43667458	T	C	18	46087492	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.A650G:p.D217G;ATP5A1:NM_001001937:exon8:c.A800G:p.D267G;ATP5A1:NM_001257334:exon7:c.A734G:p.D245G;ATP5A1:NM_001001935:exon7:c.A650G:p.D217G;ATP5A1:NM_004046:exon7:c.A800G:p.D267G;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.A734G:p.D245G;ENSG00000152234:ENST00000398752:exon7:c.A800G:p.D267G;ENSG00000152234:ENST00000282050:exon8:c.A800G:p.D267G;ENSG00000152234:ENST00000593152:exon7:c.A650G:p.D217G;ENSG00000152234:ENST00000589252:exon6:c.A533G:p.D178G;	3.01836205056496E-4	0.01
18	43667458	T	G	18	46087492	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon7:c.A650C:p.D217A;ATP5A1:NM_001001937:exon8:c.A800C:p.D267A;ATP5A1:NM_001257334:exon7:c.A734C:p.D245A;ATP5A1:NM_001001935:exon7:c.A650C:p.D217A;ATP5A1:NM_004046:exon7:c.A800C:p.D267A;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon7:c.A734C:p.D245A;ENSG00000152234:ENST00000398752:exon7:c.A800C:p.D267A;ENSG00000152234:ENST00000282050:exon8:c.A800C:p.D267A;ENSG00000152234:ENST00000593152:exon7:c.A650C:p.D217A;ENSG00000152234:ENST00000589252:exon6:c.A533C:p.D178A;	0.153578077411063	0.422
18	43667459	C	A	18	46087493	y	y	splicing	ATP5A1(NM_001257335:exon8:c.650-1G>T;NM_001001935:exon8:c.650-1G>T;NM_001257334:exon8:c.734-1G>T;NM_004046:exon8:c.800-1G>T;NM_001001937:exon9:c.800-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.800-1G>T;ENST00000593152:exon8:c.650-1G>T;ENST00000398752:exon8:c.800-1G>T;ENST00000586592:exon8:c.1136-1G>T;ENST00000590665:exon8:c.734-1G>T;ENST00000590156:exon8:c.873-1G>T;ENST00000589252:exon7:c.533-1G>T)	.	.	0.999961682427198	0.95
18	43667459	C	G	18	46087493	y	y	splicing	ATP5A1(NM_001257335:exon8:c.650-1G>C;NM_001001935:exon8:c.650-1G>C;NM_001257334:exon8:c.734-1G>C;NM_004046:exon8:c.800-1G>C;NM_001001937:exon9:c.800-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.800-1G>C;ENST00000593152:exon8:c.650-1G>C;ENST00000398752:exon8:c.800-1G>C;ENST00000586592:exon8:c.1136-1G>C;ENST00000590665:exon8:c.734-1G>C;ENST00000590156:exon8:c.873-1G>C;ENST00000589252:exon7:c.533-1G>C)	.	.	0.999961682427198	0.962
18	43667459	C	T	18	46087493	y	y	splicing	ATP5A1(NM_001257335:exon8:c.650-1G>A;NM_001001935:exon8:c.650-1G>A;NM_001257334:exon8:c.734-1G>A;NM_004046:exon8:c.800-1G>A;NM_001001937:exon9:c.800-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.800-1G>A;ENST00000593152:exon8:c.650-1G>A;ENST00000398752:exon8:c.800-1G>A;ENST00000586592:exon8:c.1136-1G>A;ENST00000590665:exon8:c.734-1G>A;ENST00000590156:exon8:c.873-1G>A;ENST00000589252:exon7:c.533-1G>A)	.	.	0.999961682427198	0.95
18	43667460	T	A	18	46087494	y	y	splicing	ATP5A1(NM_001257335:exon8:c.650-2A>T;NM_001001935:exon8:c.650-2A>T;NM_001257334:exon8:c.734-2A>T;NM_004046:exon8:c.800-2A>T;NM_001001937:exon9:c.800-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.800-2A>T;ENST00000593152:exon8:c.650-2A>T;ENST00000398752:exon8:c.800-2A>T;ENST00000586592:exon8:c.1136-2A>T;ENST00000590665:exon8:c.734-2A>T;ENST00000590156:exon8:c.873-2A>T;ENST00000589252:exon7:c.533-2A>T)	.	.	0.999967305459904	0.962
18	43667460	T	C	18	46087494	y	y	splicing	ATP5A1(NM_001257335:exon8:c.650-2A>G;NM_001001935:exon8:c.650-2A>G;NM_001257334:exon8:c.734-2A>G;NM_004046:exon8:c.800-2A>G;NM_001001937:exon9:c.800-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.800-2A>G;ENST00000593152:exon8:c.650-2A>G;ENST00000398752:exon8:c.800-2A>G;ENST00000586592:exon8:c.1136-2A>G;ENST00000590665:exon8:c.734-2A>G;ENST00000590156:exon8:c.873-2A>G;ENST00000589252:exon7:c.533-2A>G)	.	.	0.999967305459904	0.942
18	43667460	T	G	18	46087494	y	y	splicing	ATP5A1(NM_001257335:exon8:c.650-2A>C;NM_001001935:exon8:c.650-2A>C;NM_001257334:exon8:c.734-2A>C;NM_004046:exon8:c.800-2A>C;NM_001001937:exon9:c.800-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon9:c.800-2A>C;ENST00000593152:exon8:c.650-2A>C;ENST00000398752:exon8:c.800-2A>C;ENST00000586592:exon8:c.1136-2A>C;ENST00000590665:exon8:c.734-2A>C;ENST00000590156:exon8:c.873-2A>C;ENST00000589252:exon7:c.533-2A>C)	.	.	0.999967305459904	0.956
18	43667461	G	A	18	46087495	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00874395471152231	0.218
18	43667461	G	C	18	46087495	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999807313054158	0.876
18	43667461	G	T	18	46087495	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.994075205766584	0.874
18	43667462	A	C	18	46087496	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00213593372131806	0.138
18	43667462	A	G	18	46087496	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.57567908955568E-4	0.012
18	43667462	A	T	18	46087496	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.41683289247603E-5	0.002
18	43667463	G	A	18	46087497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.10736820934051E-5	0.0
18	43667463	G	C	18	46087497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00163248697058022	0.138
18	43667463	G	T	18	46087497	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.08965807352122E-4	0.028
18	43667464	A	C	18	46087498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.17640644436827	0.372
18	43667464	A	G	18	46087498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.54719850402263E-5	0.018
18	43667464	A	T	18	46087498	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.146212670279168	0.358
18	43667465	A	C	18	46087499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.332605493154233	0.342
18	43667465	A	G	18	46087499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00160333946253839	0.066
18	43667465	A	T	18	46087499	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.778079721702103	0.504
18	43667466	A	C	18	46087500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.15920361502885E-4	0.058
18	43667466	A	G	18	46087500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.27899855758064E-5	0.0
18	43667466	A	T	18	46087500	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.36885698211874E-4	0.148
18	43667467	A	C	18	46087501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999967930331615	0.996
18	43667467	A	G	18	46087501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.1803163636769E-4	0.092
18	43667467	A	T	18	46087501	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0569462871237567	0.246
18	43667468	T	A	18	46087502	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.298624758597E-5	0.036
18	43667468	T	C	18	46087502	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.58888020874694E-5	0.004
18	43667468	T	G	18	46087502	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.08940590437388E-5	0.002
18	43667469	A	C	18	46087503	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999948324502223	0.962
18	43667469	A	G	18	46087503	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0275134448638757	0.152
18	43667469	A	T	18	46087503	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.558361308009172	0.498
18	43667470	T	A	18	46087504	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.57425113233739E-5	0.008
18	43667470	T	C	18	46087504	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.39429131088215E-5	0.006
18	43667470	T	G	18	46087504	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.48708511619962E-5	0.004
18	43668067	T	A	18	46088101	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.40202559021094E-5	0.0
18	43668067	T	C	18	46088101	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.46175166467479E-5	0.0
18	43668067	T	G	18	46088101	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.40202559021094E-5	0.002
18	43668068	T	A	18	46088102	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.77547636659262E-5	0.004
18	43668068	T	C	18	46088102	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.46690931440911E-5	0.004
18	43668068	T	G	18	46088102	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.44160003140102E-5	0.004
18	43668069	T	A	18	46088103	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.95048459408849E-5	0.022
18	43668069	T	C	18	46088103	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.27191368797956E-4	0.04
18	43668069	T	G	18	46088103	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.71291816824759E-5	0.04
18	43668070	A	C	18	46088104	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.71911502829056E-4	0.118
18	43668070	A	G	18	46088104	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.79657037877225E-4	0.02
18	43668070	A	T	18	46088104	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.25576484196977E-4	0.022
18	43668071	A	C	18	46088105	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.83868091559351E-4	0.054
18	43668071	A	G	18	46088105	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.99769738680469E-5	0.002
18	43668071	A	T	18	46088105	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.45946964762049E-5	0.006
18	43668072	T	A	18	46088106	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999190478557341	0.802
18	43668072	T	C	18	46088106	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.990929509306293	0.662
18	43668072	T	G	18	46088106	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999094077354666	0.78
18	43668073	A	C	18	46088107	y	y	splicing	ATP5A1(NM_001257335:exon7:c.649+2T>G;NM_001001935:exon7:c.649+2T>G;NM_001257334:exon7:c.733+2T>G;NM_004046:exon7:c.799+2T>G;NM_001001937:exon8:c.799+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.799+2T>G;ENST00000593152:exon7:c.649+2T>G;ENST00000398752:exon7:c.799+2T>G;ENST00000586592:exon7:c.1135+2T>G;ENST00000590665:exon7:c.733+2T>G;ENST00000590156:exon7:c.872+2T>G;ENST00000589252:exon6:c.532+2T>G)	.	.	0.999982235061515	0.952
18	43668073	A	G	18	46088107	y	y	splicing	ATP5A1(NM_001257335:exon7:c.649+2T>C;NM_001001935:exon7:c.649+2T>C;NM_001257334:exon7:c.733+2T>C;NM_004046:exon7:c.799+2T>C;NM_001001937:exon8:c.799+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.799+2T>C;ENST00000593152:exon7:c.649+2T>C;ENST00000398752:exon7:c.799+2T>C;ENST00000586592:exon7:c.1135+2T>C;ENST00000590665:exon7:c.733+2T>C;ENST00000590156:exon7:c.872+2T>C;ENST00000589252:exon6:c.532+2T>C)	.	.	0.990354283130946	0.604
18	43668073	A	T	18	46088107	y	y	splicing	ATP5A1(NM_001257335:exon7:c.649+2T>A;NM_001001935:exon7:c.649+2T>A;NM_001257334:exon7:c.733+2T>A;NM_004046:exon7:c.799+2T>A;NM_001001937:exon8:c.799+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.799+2T>A;ENST00000593152:exon7:c.649+2T>A;ENST00000398752:exon7:c.799+2T>A;ENST00000586592:exon7:c.1135+2T>A;ENST00000590665:exon7:c.733+2T>A;ENST00000590156:exon7:c.872+2T>A;ENST00000589252:exon6:c.532+2T>A)	.	.	0.999982833853374	0.952
18	43668074	C	A	18	46088108	y	y	splicing	ATP5A1(NM_001257335:exon7:c.649+1G>T;NM_001001935:exon7:c.649+1G>T;NM_001257334:exon7:c.733+1G>T;NM_004046:exon7:c.799+1G>T;NM_001001937:exon8:c.799+1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.799+1G>T;ENST00000593152:exon7:c.649+1G>T;ENST00000398752:exon7:c.799+1G>T;ENST00000586592:exon7:c.1135+1G>T;ENST00000590665:exon7:c.733+1G>T;ENST00000590156:exon7:c.872+1G>T;ENST00000589252:exon6:c.532+1G>T)	.	.	0.999951608398927	0.956
18	43668074	C	G	18	46088108	y	y	splicing	ATP5A1(NM_001257335:exon7:c.649+1G>C;NM_001001935:exon7:c.649+1G>C;NM_001257334:exon7:c.733+1G>C;NM_004046:exon7:c.799+1G>C;NM_001001937:exon8:c.799+1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.799+1G>C;ENST00000593152:exon7:c.649+1G>C;ENST00000398752:exon7:c.799+1G>C;ENST00000586592:exon7:c.1135+1G>C;ENST00000590665:exon7:c.733+1G>C;ENST00000590156:exon7:c.872+1G>C;ENST00000589252:exon6:c.532+1G>C)	.	.	0.99995205456907	0.96
18	43668074	C	T	18	46088108	y	y	splicing	ATP5A1(NM_001257335:exon7:c.649+1G>A;NM_001001935:exon7:c.649+1G>A;NM_001257334:exon7:c.733+1G>A;NM_004046:exon7:c.799+1G>A;NM_001001937:exon8:c.799+1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.799+1G>A;ENST00000593152:exon7:c.649+1G>A;ENST00000398752:exon7:c.799+1G>A;ENST00000586592:exon7:c.1135+1G>A;ENST00000590665:exon7:c.733+1G>A;ENST00000590156:exon7:c.872+1G>A;ENST00000589252:exon6:c.532+1G>A)	.	.	0.999951608398927	0.956
18	43668075	C	A	18	46088109	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon6:c.G649T:p.D217Y;ATP5A1:NM_001001937:exon7:c.G799T:p.D267Y;ATP5A1:NM_001257334:exon6:c.G733T:p.D245Y;ATP5A1:NM_001001935:exon6:c.G649T:p.D217Y;ATP5A1:NM_004046:exon6:c.G799T:p.D267Y;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.G733T:p.D245Y;ENSG00000152234:ENST00000398752:exon6:c.G799T:p.D267Y;ENSG00000152234:ENST00000282050:exon7:c.G799T:p.D267Y;ENSG00000152234:ENST00000593152:exon6:c.G649T:p.D217Y;ENSG00000152234:ENST00000589252:exon5:c.G532T:p.D178Y;	0.99999417018434	1.0
18	43668075	C	G	18	46088109	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon6:c.G649C:p.D217H;ATP5A1:NM_001001937:exon7:c.G799C:p.D267H;ATP5A1:NM_001257334:exon6:c.G733C:p.D245H;ATP5A1:NM_001001935:exon6:c.G649C:p.D217H;ATP5A1:NM_004046:exon6:c.G799C:p.D267H;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.G733C:p.D245H;ENSG00000152234:ENST00000398752:exon6:c.G799C:p.D267H;ENSG00000152234:ENST00000282050:exon7:c.G799C:p.D267H;ENSG00000152234:ENST00000593152:exon6:c.G649C:p.D217H;ENSG00000152234:ENST00000589252:exon5:c.G532C:p.D178H;	0.99999788646098	1.0
18	43668075	C	T	18	46088109	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon6:c.G649A:p.D217N;ATP5A1:NM_001001937:exon7:c.G799A:p.D267N;ATP5A1:NM_001257334:exon6:c.G733A:p.D245N;ATP5A1:NM_001001935:exon6:c.G649A:p.D217N;ATP5A1:NM_004046:exon6:c.G799A:p.D267N;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.G733A:p.D245N;ENSG00000152234:ENST00000398752:exon6:c.G799A:p.D267N;ENSG00000152234:ENST00000282050:exon7:c.G799A:p.D267N;ENSG00000152234:ENST00000593152:exon6:c.G649A:p.D217N;ENSG00000152234:ENST00000589252:exon5:c.G532A:p.D178N;	0.999993628667548	1.0
18	43668076	T	A	18	46088110	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon6:c.A648T:p.A216A;ATP5A1:NM_001001937:exon7:c.A798T:p.A266A;ATP5A1:NM_001257334:exon6:c.A732T:p.A244A;ATP5A1:NM_001001935:exon6:c.A648T:p.A216A;ATP5A1:NM_004046:exon6:c.A798T:p.A266A;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.A732T:p.A244A;ENSG00000152234:ENST00000398752:exon6:c.A798T:p.A266A;ENSG00000152234:ENST00000282050:exon7:c.A798T:p.A266A;ENSG00000152234:ENST00000593152:exon6:c.A648T:p.A216A;ENSG00000152234:ENST00000589252:exon5:c.A531T:p.A177A;	0.998748764103665	0.952
18	43668076	T	C	18	46088110	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon6:c.A648G:p.A216A;ATP5A1:NM_001001937:exon7:c.A798G:p.A266A;ATP5A1:NM_001257334:exon6:c.A732G:p.A244A;ATP5A1:NM_001001935:exon6:c.A648G:p.A216A;ATP5A1:NM_004046:exon6:c.A798G:p.A266A;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.A732G:p.A244A;ENSG00000152234:ENST00000398752:exon6:c.A798G:p.A266A;ENSG00000152234:ENST00000282050:exon7:c.A798G:p.A266A;ENSG00000152234:ENST00000593152:exon6:c.A648G:p.A216A;ENSG00000152234:ENST00000589252:exon5:c.A531G:p.A177A;	0.990240784718	0.85
18	43668076	T	G	18	46088110	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon6:c.A648C:p.A216A;ATP5A1:NM_001001937:exon7:c.A798C:p.A266A;ATP5A1:NM_001257334:exon6:c.A732C:p.A244A;ATP5A1:NM_001001935:exon6:c.A648C:p.A216A;ATP5A1:NM_004046:exon6:c.A798C:p.A266A;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.A732C:p.A244A;ENSG00000152234:ENST00000398752:exon6:c.A798C:p.A266A;ENSG00000152234:ENST00000282050:exon7:c.A798C:p.A266A;ENSG00000152234:ENST00000593152:exon6:c.A648C:p.A216A;ENSG00000152234:ENST00000589252:exon5:c.A531C:p.A177A;	0.990175803078544	0.89
18	43668077	G	A	18	46088111	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon6:c.C647T:p.A216V;ATP5A1:NM_001001937:exon7:c.C797T:p.A266V;ATP5A1:NM_001257334:exon6:c.C731T:p.A244V;ATP5A1:NM_001001935:exon6:c.C647T:p.A216V;ATP5A1:NM_004046:exon6:c.C797T:p.A266V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.C731T:p.A244V;ENSG00000152234:ENST00000398752:exon6:c.C797T:p.A266V;ENSG00000152234:ENST00000282050:exon7:c.C797T:p.A266V;ENSG00000152234:ENST00000593152:exon6:c.C647T:p.A216V;ENSG00000152234:ENST00000589252:exon5:c.C530T:p.A177V;	0.999844396265098	0.984
18	43668077	G	C	18	46088111	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon6:c.C647G:p.A216G;ATP5A1:NM_001001937:exon7:c.C797G:p.A266G;ATP5A1:NM_001257334:exon6:c.C731G:p.A244G;ATP5A1:NM_001001935:exon6:c.C647G:p.A216G;ATP5A1:NM_004046:exon6:c.C797G:p.A266G;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.C731G:p.A244G;ENSG00000152234:ENST00000398752:exon6:c.C797G:p.A266G;ENSG00000152234:ENST00000282050:exon7:c.C797G:p.A266G;ENSG00000152234:ENST00000593152:exon6:c.C647G:p.A216G;ENSG00000152234:ENST00000589252:exon5:c.C530G:p.A177G;	0.976131218468261	0.69
18	43668077	G	T	18	46088111	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon6:c.C647A:p.A216E;ATP5A1:NM_001001937:exon7:c.C797A:p.A266E;ATP5A1:NM_001257334:exon6:c.C731A:p.A244E;ATP5A1:NM_001001935:exon6:c.C647A:p.A216E;ATP5A1:NM_004046:exon6:c.C797A:p.A266E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.C731A:p.A244E;ENSG00000152234:ENST00000398752:exon6:c.C797A:p.A266E;ENSG00000152234:ENST00000282050:exon7:c.C797A:p.A266E;ENSG00000152234:ENST00000593152:exon6:c.C647A:p.A216E;ENSG00000152234:ENST00000589252:exon5:c.C530A:p.A177E;	0.914119733878825	0.554
18	43668222	T	A	18	46088256	y	y	exonic	ATP5A1	stopgain SNV	ATP5A1:NM_001257335:exon6:c.A502T:p.K168X;ATP5A1:NM_001001937:exon7:c.A652T:p.K218X;ATP5A1:NM_001257334:exon6:c.A586T:p.K196X;ATP5A1:NM_001001935:exon6:c.A502T:p.K168X;ATP5A1:NM_004046:exon6:c.A652T:p.K218X;	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590665:exon6:c.A586T:p.K196X;ENSG00000152234:ENST00000398752:exon6:c.A652T:p.K218X;ENSG00000152234:ENST00000282050:exon7:c.A652T:p.K218X;ENSG00000152234:ENST00000593152:exon6:c.A502T:p.K168X;ENSG00000152234:ENST00000589869:exon6:c.A502T:p.K168X;ENSG00000152234:ENST00000589252:exon5:c.A385T:p.K129X;	0.754593308064185	0.794
18	43668222	T	C	18	46088256	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon6:c.A502G:p.K168E;ATP5A1:NM_001001937:exon7:c.A652G:p.K218E;ATP5A1:NM_001257334:exon6:c.A586G:p.K196E;ATP5A1:NM_001001935:exon6:c.A502G:p.K168E;ATP5A1:NM_004046:exon6:c.A652G:p.K218E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.A586G:p.K196E;ENSG00000152234:ENST00000398752:exon6:c.A652G:p.K218E;ENSG00000152234:ENST00000282050:exon7:c.A652G:p.K218E;ENSG00000152234:ENST00000593152:exon6:c.A502G:p.K168E;ENSG00000152234:ENST00000589869:exon6:c.A502G:p.K168E;ENSG00000152234:ENST00000589252:exon5:c.A385G:p.K129E;	0.659593505975555	0.728
18	43668222	T	G	18	46088256	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon6:c.A502C:p.K168Q;ATP5A1:NM_001001937:exon7:c.A652C:p.K218Q;ATP5A1:NM_001257334:exon6:c.A586C:p.K196Q;ATP5A1:NM_001001935:exon6:c.A502C:p.K168Q;ATP5A1:NM_004046:exon6:c.A652C:p.K218Q;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.A586C:p.K196Q;ENSG00000152234:ENST00000398752:exon6:c.A652C:p.K218Q;ENSG00000152234:ENST00000282050:exon7:c.A652C:p.K218Q;ENSG00000152234:ENST00000593152:exon6:c.A502C:p.K168Q;ENSG00000152234:ENST00000589869:exon6:c.A502C:p.K168Q;ENSG00000152234:ENST00000589252:exon5:c.A385C:p.K129Q;	0.694449758236836	0.812
18	43668223	C	A	18	46088257	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon6:c.G501T:p.G167G;ATP5A1:NM_001001937:exon7:c.G651T:p.G217G;ATP5A1:NM_001257334:exon6:c.G585T:p.G195G;ATP5A1:NM_001001935:exon6:c.G501T:p.G167G;ATP5A1:NM_004046:exon6:c.G651T:p.G217G;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.G585T:p.G195G;ENSG00000152234:ENST00000398752:exon6:c.G651T:p.G217G;ENSG00000152234:ENST00000282050:exon7:c.G651T:p.G217G;ENSG00000152234:ENST00000593152:exon6:c.G501T:p.G167G;ENSG00000152234:ENST00000589869:exon6:c.G501T:p.G167G;ENSG00000152234:ENST00000589252:exon5:c.G384T:p.G128G;	0.960304096573198	0.692
18	43668223	C	G	18	46088257	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon6:c.G501C:p.G167G;ATP5A1:NM_001001937:exon7:c.G651C:p.G217G;ATP5A1:NM_001257334:exon6:c.G585C:p.G195G;ATP5A1:NM_001001935:exon6:c.G501C:p.G167G;ATP5A1:NM_004046:exon6:c.G651C:p.G217G;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.G585C:p.G195G;ENSG00000152234:ENST00000398752:exon6:c.G651C:p.G217G;ENSG00000152234:ENST00000282050:exon7:c.G651C:p.G217G;ENSG00000152234:ENST00000593152:exon6:c.G501C:p.G167G;ENSG00000152234:ENST00000589869:exon6:c.G501C:p.G167G;ENSG00000152234:ENST00000589252:exon5:c.G384C:p.G128G;	0.13629114671459	0.544
18	43668223	C	T	18	46088257	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon6:c.G501A:p.G167G;ATP5A1:NM_001001937:exon7:c.G651A:p.G217G;ATP5A1:NM_001257334:exon6:c.G585A:p.G195G;ATP5A1:NM_001001935:exon6:c.G501A:p.G167G;ATP5A1:NM_004046:exon6:c.G651A:p.G217G;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon6:c.G585A:p.G195G;ENSG00000152234:ENST00000398752:exon6:c.G651A:p.G217G;ENSG00000152234:ENST00000282050:exon7:c.G651A:p.G217G;ENSG00000152234:ENST00000593152:exon6:c.G501A:p.G167G;ENSG00000152234:ENST00000589869:exon6:c.G501A:p.G167G;ENSG00000152234:ENST00000589252:exon5:c.G384A:p.G128G;	0.035645359853455	0.266
18	43668224	C	A	18	46088258	y	y	splicing	ATP5A1(NM_001257335:exon7:c.501-1G>T;NM_001001935:exon7:c.501-1G>T;NM_001257334:exon7:c.585-1G>T;NM_004046:exon7:c.651-1G>T;NM_001001937:exon8:c.651-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.651-1G>T;ENST00000593152:exon7:c.501-1G>T;ENST00000398752:exon7:c.651-1G>T;ENST00000586592:exon7:c.987-1G>T;ENST00000590665:exon7:c.585-1G>T;ENST00000590156:exon7:c.724-1G>T;ENST00000589252:exon6:c.384-1G>T;ENST00000589869:exon7:c.501-1G>T)	.	.	0.999986675681007	0.934
18	43668224	C	G	18	46088258	y	y	splicing	ATP5A1(NM_001257335:exon7:c.501-1G>C;NM_001001935:exon7:c.501-1G>C;NM_001257334:exon7:c.585-1G>C;NM_004046:exon7:c.651-1G>C;NM_001001937:exon8:c.651-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.651-1G>C;ENST00000593152:exon7:c.501-1G>C;ENST00000398752:exon7:c.651-1G>C;ENST00000586592:exon7:c.987-1G>C;ENST00000590665:exon7:c.585-1G>C;ENST00000590156:exon7:c.724-1G>C;ENST00000589252:exon6:c.384-1G>C;ENST00000589869:exon7:c.501-1G>C)	.	.	0.999986675681007	0.934
18	43668224	C	T	18	46088258	y	y	splicing	ATP5A1(NM_001257335:exon7:c.501-1G>A;NM_001001935:exon7:c.501-1G>A;NM_001257334:exon7:c.585-1G>A;NM_004046:exon7:c.651-1G>A;NM_001001937:exon8:c.651-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.651-1G>A;ENST00000593152:exon7:c.501-1G>A;ENST00000398752:exon7:c.651-1G>A;ENST00000586592:exon7:c.987-1G>A;ENST00000590665:exon7:c.585-1G>A;ENST00000590156:exon7:c.724-1G>A;ENST00000589252:exon6:c.384-1G>A;ENST00000589869:exon7:c.501-1G>A)	.	.	0.999986675681007	0.934
18	43668225	T	A	18	46088259	y	y	splicing	ATP5A1(NM_001257335:exon7:c.501-2A>T;NM_001001935:exon7:c.501-2A>T;NM_001257334:exon7:c.585-2A>T;NM_004046:exon7:c.651-2A>T;NM_001001937:exon8:c.651-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.651-2A>T;ENST00000593152:exon7:c.501-2A>T;ENST00000398752:exon7:c.651-2A>T;ENST00000586592:exon7:c.987-2A>T;ENST00000590665:exon7:c.585-2A>T;ENST00000590156:exon7:c.724-2A>T;ENST00000589252:exon6:c.384-2A>T;ENST00000589869:exon7:c.501-2A>T)	.	.	0.999989917668626	0.928
18	43668225	T	C	18	46088259	y	y	splicing	ATP5A1(NM_001257335:exon7:c.501-2A>G;NM_001001935:exon7:c.501-2A>G;NM_001257334:exon7:c.585-2A>G;NM_004046:exon7:c.651-2A>G;NM_001001937:exon8:c.651-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.651-2A>G;ENST00000593152:exon7:c.501-2A>G;ENST00000398752:exon7:c.651-2A>G;ENST00000586592:exon7:c.987-2A>G;ENST00000590665:exon7:c.585-2A>G;ENST00000590156:exon7:c.724-2A>G;ENST00000589252:exon6:c.384-2A>G;ENST00000589869:exon7:c.501-2A>G)	.	.	0.999989917668626	0.926
18	43668225	T	G	18	46088259	y	y	splicing	ATP5A1(NM_001257335:exon7:c.501-2A>C;NM_001001935:exon7:c.501-2A>C;NM_001257334:exon7:c.585-2A>C;NM_004046:exon7:c.651-2A>C;NM_001001937:exon8:c.651-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon8:c.651-2A>C;ENST00000593152:exon7:c.501-2A>C;ENST00000398752:exon7:c.651-2A>C;ENST00000586592:exon7:c.987-2A>C;ENST00000590665:exon7:c.585-2A>C;ENST00000590156:exon7:c.724-2A>C;ENST00000589252:exon6:c.384-2A>C;ENST00000589869:exon7:c.501-2A>C)	.	.	0.999989917668626	0.926
18	43668226	T	A	18	46088260	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00149342389663242	0.008
18	43668226	T	C	18	46088260	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.40922378090898	0.486
18	43668226	T	G	18	46088260	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.84208449830646E-4	0.072
18	43668227	T	A	18	46088261	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.98765744588035E-5	0.008
18	43668227	T	C	18	46088261	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.51069825861769E-4	0.02
18	43668227	T	G	18	46088261	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.3187240543931E-4	0.0
18	43668228	A	C	18	46088262	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0399447354499412	0.398
18	43668228	A	G	18	46088262	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00412477226022633	0.106
18	43668228	A	T	18	46088262	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.022775332182223	0.296
18	43668229	A	C	18	46088263	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0024740293716127	0.092
18	43668229	A	G	18	46088263	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.87800572303884E-5	0.006
18	43668229	A	T	18	46088263	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.39566265966729E-4	0.044
18	43668230	A	C	18	46088264	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0165590911035239	0.174
18	43668230	A	G	18	46088264	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.24464190164557E-4	0.016
18	43668230	A	T	18	46088264	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.03161826935878	0.16
18	43668231	A	C	18	46088265	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00387113087164144	0.134
18	43668231	A	G	18	46088265	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.46405872132854E-4	0.024
18	43668231	A	T	18	46088265	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0145836036618912	0.092
18	43668232	A	C	18	46088266	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.04633963378097E-4	0.172
18	43668232	A	G	18	46088266	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.32481534037819E-4	0.014
18	43668232	A	T	18	46088266	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00113236227648332	0.134
18	43668233	G	A	18	46088267	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.27723911700772E-5	0.002
18	43668233	G	C	18	46088267	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.98743115145464E-4	0.044
18	43668233	G	T	18	46088267	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00205625829855692	0.098
18	43668234	A	C	18	46088268	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00169328849387242	0.104
18	43668234	A	G	18	46088268	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.34712763098734E-4	0.094
18	43668234	A	T	18	46088268	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0029441430827875	0.124
18	43668235	G	A	18	46088269	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.38913873231455E-5	0.002
18	43668235	G	C	18	46088269	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.39936150053411E-4	0.016
18	43668235	G	T	18	46088269	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.22014677897875E-4	0.032
18	43669524	G	A	18	46089558	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.19839581468639E-4	0.024
18	43669524	G	C	18	46089558	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.90413816726891E-4	0.026
18	43669524	G	T	18	46089558	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00108358349566449	0.016
18	43669525	T	A	18	46089559	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00158956623622061	0.05
18	43669525	T	C	18	46089559	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00142368925905049	0.014
18	43669525	T	G	18	46089559	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.57681199645868E-4	0.022
18	43669526	C	A	18	46089560	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.91853177859728E-5	0.044
18	43669526	C	G	18	46089560	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00121170302326669	0.082
18	43669526	C	T	18	46089560	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.8154362568493E-4	0.02
18	43669527	T	A	18	46089561	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00145823552378095	0.19
18	43669527	T	C	18	46089561	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.9848066982694E-4	0.042
18	43669527	T	G	18	46089561	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.99874283716638E-4	0.034
18	43669528	T	A	18	46089562	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.99992483525432	0.916
18	43669528	T	C	18	46089562	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999907525140288	0.962
18	43669528	T	G	18	46089562	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999985304834327	0.956
18	43669529	T	A	18	46089563	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999961959810533	0.96
18	43669529	T	C	18	46089563	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999929675733407	0.968
18	43669529	T	G	18	46089563	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999975184776908	0.984
18	43669530	A	C	18	46089564	y	y	splicing	ATP5A1(NM_001257335:exon6:c.500+2T>G;NM_001001935:exon6:c.500+2T>G;NM_001257334:exon6:c.584+2T>G;NM_004046:exon6:c.650+2T>G;NM_001001937:exon7:c.650+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.650+2T>G;ENST00000593152:exon6:c.500+2T>G;ENST00000398752:exon6:c.650+2T>G;ENST00000586592:exon6:c.986+2T>G;ENST00000590665:exon6:c.584+2T>G;ENST00000590156:exon6:c.723+2T>G;ENST00000589252:exon5:c.383+2T>G;ENST00000589869:exon6:c.500+2T>G)	.	.	0.999992076683048	0.932
18	43669530	A	G	18	46089564	y	y	splicing	ATP5A1(NM_001257335:exon6:c.500+2T>C;NM_001001935:exon6:c.500+2T>C;NM_001257334:exon6:c.584+2T>C;NM_004046:exon6:c.650+2T>C;NM_001001937:exon7:c.650+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.650+2T>C;ENST00000593152:exon6:c.500+2T>C;ENST00000398752:exon6:c.650+2T>C;ENST00000586592:exon6:c.986+2T>C;ENST00000590665:exon6:c.584+2T>C;ENST00000590156:exon6:c.723+2T>C;ENST00000589252:exon5:c.383+2T>C;ENST00000589869:exon6:c.500+2T>C)	.	.	0.99993396625123	0.87
18	43669530	A	T	18	46089564	y	y	splicing	ATP5A1(NM_001257335:exon6:c.500+2T>A;NM_001001935:exon6:c.500+2T>A;NM_001257334:exon6:c.584+2T>A;NM_004046:exon6:c.650+2T>A;NM_001001937:exon7:c.650+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.650+2T>A;ENST00000593152:exon6:c.500+2T>A;ENST00000398752:exon6:c.650+2T>A;ENST00000586592:exon6:c.986+2T>A;ENST00000590665:exon6:c.584+2T>A;ENST00000590156:exon6:c.723+2T>A;ENST00000589252:exon5:c.383+2T>A;ENST00000589869:exon6:c.500+2T>A)	.	.	0.999992076683048	0.932
18	43669531	C	A	18	46089565	y	y	splicing	ATP5A1(NM_001257335:exon6:c.500+1G>T;NM_001001935:exon6:c.500+1G>T;NM_001257334:exon6:c.584+1G>T;NM_004046:exon6:c.650+1G>T;NM_001001937:exon7:c.650+1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.650+1G>T;ENST00000593152:exon6:c.500+1G>T;ENST00000398752:exon6:c.650+1G>T;ENST00000586592:exon6:c.986+1G>T;ENST00000590665:exon6:c.584+1G>T;ENST00000590156:exon6:c.723+1G>T;ENST00000589252:exon5:c.383+1G>T;ENST00000589869:exon6:c.500+1G>T)	.	.	0.999989528922238	0.944
18	43669531	C	G	18	46089565	y	y	splicing	ATP5A1(NM_001257335:exon6:c.500+1G>C;NM_001001935:exon6:c.500+1G>C;NM_001257334:exon6:c.584+1G>C;NM_004046:exon6:c.650+1G>C;NM_001001937:exon7:c.650+1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.650+1G>C;ENST00000593152:exon6:c.500+1G>C;ENST00000398752:exon6:c.650+1G>C;ENST00000586592:exon6:c.986+1G>C;ENST00000590665:exon6:c.584+1G>C;ENST00000590156:exon6:c.723+1G>C;ENST00000589252:exon5:c.383+1G>C;ENST00000589869:exon6:c.500+1G>C)	.	.	0.999989528922238	0.944
18	43669531	C	T	18	46089565	y	y	splicing	ATP5A1(NM_001257335:exon6:c.500+1G>A;NM_001001935:exon6:c.500+1G>A;NM_001257334:exon6:c.584+1G>A;NM_004046:exon6:c.650+1G>A;NM_001001937:exon7:c.650+1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.650+1G>A;ENST00000593152:exon6:c.500+1G>A;ENST00000398752:exon6:c.650+1G>A;ENST00000586592:exon6:c.986+1G>A;ENST00000590665:exon6:c.584+1G>A;ENST00000590156:exon6:c.723+1G>A;ENST00000589252:exon5:c.383+1G>A;ENST00000589869:exon6:c.500+1G>A)	.	.	0.999989528922238	0.944
18	43669532	C	A	18	46089566	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G500T:p.G167V;ATP5A1:NM_001001937:exon6:c.G650T:p.G217V;ATP5A1:NM_001257334:exon5:c.G584T:p.G195V;ATP5A1:NM_001001935:exon5:c.G500T:p.G167V;ATP5A1:NM_004046:exon5:c.G650T:p.G217V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G584T:p.G195V;ENSG00000152234:ENST00000398752:exon5:c.G650T:p.G217V;ENSG00000152234:ENST00000282050:exon6:c.G650T:p.G217V;ENSG00000152234:ENST00000593152:exon5:c.G500T:p.G167V;ENSG00000152234:ENST00000589869:exon5:c.G500T:p.G167V;ENSG00000152234:ENST00000589252:exon4:c.G383T:p.G128V;	0.999985094537663	0.998
18	43669532	C	G	18	46089566	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G500C:p.G167A;ATP5A1:NM_001001937:exon6:c.G650C:p.G217A;ATP5A1:NM_001257334:exon5:c.G584C:p.G195A;ATP5A1:NM_001001935:exon5:c.G500C:p.G167A;ATP5A1:NM_004046:exon5:c.G650C:p.G217A;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G584C:p.G195A;ENSG00000152234:ENST00000398752:exon5:c.G650C:p.G217A;ENSG00000152234:ENST00000282050:exon6:c.G650C:p.G217A;ENSG00000152234:ENST00000593152:exon5:c.G500C:p.G167A;ENSG00000152234:ENST00000589869:exon5:c.G500C:p.G167A;ENSG00000152234:ENST00000589252:exon4:c.G383C:p.G128A;	0.999998135709029	1.0
18	43669532	C	T	18	46089566	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G500A:p.G167E;ATP5A1:NM_001001937:exon6:c.G650A:p.G217E;ATP5A1:NM_001257334:exon5:c.G584A:p.G195E;ATP5A1:NM_001001935:exon5:c.G500A:p.G167E;ATP5A1:NM_004046:exon5:c.G650A:p.G217E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G584A:p.G195E;ENSG00000152234:ENST00000398752:exon5:c.G650A:p.G217E;ENSG00000152234:ENST00000282050:exon6:c.G650A:p.G217E;ENSG00000152234:ENST00000593152:exon5:c.G500A:p.G167E;ENSG00000152234:ENST00000589869:exon5:c.G500A:p.G167E;ENSG00000152234:ENST00000589252:exon4:c.G383A:p.G128E;	0.999997630933046	1.0
18	43669533	C	A	18	46089567	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G499T:p.G167W;ATP5A1:NM_001001937:exon6:c.G649T:p.G217W;ATP5A1:NM_001257334:exon5:c.G583T:p.G195W;ATP5A1:NM_001001935:exon5:c.G499T:p.G167W;ATP5A1:NM_004046:exon5:c.G649T:p.G217W;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G583T:p.G195W;ENSG00000152234:ENST00000398752:exon5:c.G649T:p.G217W;ENSG00000152234:ENST00000282050:exon6:c.G649T:p.G217W;ENSG00000152234:ENST00000593152:exon5:c.G499T:p.G167W;ENSG00000152234:ENST00000589869:exon5:c.G499T:p.G167W;ENSG00000152234:ENST00000589252:exon4:c.G382T:p.G128W;	0.991946370207962	0.86
18	43669533	C	G	18	46089567	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G499C:p.G167R;ATP5A1:NM_001001937:exon6:c.G649C:p.G217R;ATP5A1:NM_001257334:exon5:c.G583C:p.G195R;ATP5A1:NM_001001935:exon5:c.G499C:p.G167R;ATP5A1:NM_004046:exon5:c.G649C:p.G217R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G583C:p.G195R;ENSG00000152234:ENST00000398752:exon5:c.G649C:p.G217R;ENSG00000152234:ENST00000282050:exon6:c.G649C:p.G217R;ENSG00000152234:ENST00000593152:exon5:c.G499C:p.G167R;ENSG00000152234:ENST00000589869:exon5:c.G499C:p.G167R;ENSG00000152234:ENST00000589252:exon4:c.G382C:p.G128R;	0.989520859844826	0.852
18	43669533	C	T	18	46089567	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G499A:p.G167R;ATP5A1:NM_001001937:exon6:c.G649A:p.G217R;ATP5A1:NM_001257334:exon5:c.G583A:p.G195R;ATP5A1:NM_001001935:exon5:c.G499A:p.G167R;ATP5A1:NM_004046:exon5:c.G649A:p.G217R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G583A:p.G195R;ENSG00000152234:ENST00000398752:exon5:c.G649A:p.G217R;ENSG00000152234:ENST00000282050:exon6:c.G649A:p.G217R;ENSG00000152234:ENST00000593152:exon5:c.G499A:p.G167R;ENSG00000152234:ENST00000589869:exon5:c.G499A:p.G167R;ENSG00000152234:ENST00000589252:exon4:c.G382A:p.G128R;	0.949407991526621	0.578
18	43669534	A	C	18	46089568	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon5:c.T498G:p.T166T;ATP5A1:NM_001001937:exon6:c.T648G:p.T216T;ATP5A1:NM_001257334:exon5:c.T582G:p.T194T;ATP5A1:NM_001001935:exon5:c.T498G:p.T166T;ATP5A1:NM_004046:exon5:c.T648G:p.T216T;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.T582G:p.T194T;ENSG00000152234:ENST00000398752:exon5:c.T648G:p.T216T;ENSG00000152234:ENST00000282050:exon6:c.T648G:p.T216T;ENSG00000152234:ENST00000593152:exon5:c.T498G:p.T166T;ENSG00000152234:ENST00000589869:exon5:c.T498G:p.T166T;ENSG00000152234:ENST00000589252:exon4:c.T381G:p.T127T;	3.40655833884553E-4	0.036
18	43669534	A	G	18	46089568	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon5:c.T498C:p.T166T;ATP5A1:NM_001001937:exon6:c.T648C:p.T216T;ATP5A1:NM_001257334:exon5:c.T582C:p.T194T;ATP5A1:NM_001001935:exon5:c.T498C:p.T166T;ATP5A1:NM_004046:exon5:c.T648C:p.T216T;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.T582C:p.T194T;ENSG00000152234:ENST00000398752:exon5:c.T648C:p.T216T;ENSG00000152234:ENST00000282050:exon6:c.T648C:p.T216T;ENSG00000152234:ENST00000593152:exon5:c.T498C:p.T166T;ENSG00000152234:ENST00000589869:exon5:c.T498C:p.T166T;ENSG00000152234:ENST00000589252:exon4:c.T381C:p.T127T;	4.3846713091456E-4	0.016
18	43669534	A	T	18	46089568	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon5:c.T498A:p.T166T;ATP5A1:NM_001001937:exon6:c.T648A:p.T216T;ATP5A1:NM_001257334:exon5:c.T582A:p.T194T;ATP5A1:NM_001001935:exon5:c.T498A:p.T166T;ATP5A1:NM_004046:exon5:c.T648A:p.T216T;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.T582A:p.T194T;ENSG00000152234:ENST00000398752:exon5:c.T648A:p.T216T;ENSG00000152234:ENST00000282050:exon6:c.T648A:p.T216T;ENSG00000152234:ENST00000593152:exon5:c.T498A:p.T166T;ENSG00000152234:ENST00000589869:exon5:c.T498A:p.T166T;ENSG00000152234:ENST00000589252:exon4:c.T381A:p.T127T;	2.4878444959379E-4	0.004
18	43669697	C	A	18	46089731	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G335T:p.G112V;ATP5A1:NM_001001937:exon6:c.G485T:p.G162V;ATP5A1:NM_001257334:exon5:c.G419T:p.G140V;ATP5A1:NM_001001935:exon5:c.G335T:p.G112V;ATP5A1:NM_004046:exon5:c.G485T:p.G162V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G419T:p.G140V;ENSG00000152234:ENST00000398752:exon5:c.G485T:p.G162V;ENSG00000152234:ENST00000282050:exon6:c.G485T:p.G162V;ENSG00000152234:ENST00000590324:exon6:c.G335T:p.G112V;ENSG00000152234:ENST00000593152:exon5:c.G335T:p.G112V;ENSG00000152234:ENST00000589869:exon5:c.G335T:p.G112V;ENSG00000152234:ENST00000589252:exon4:c.G218T:p.G73V;ENSG00000152234:ENST00000590406:exon6:c.G485T:p.G162V;	0.972090598260077	0.862
18	43669697	C	G	18	46089731	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G335C:p.G112A;ATP5A1:NM_001001937:exon6:c.G485C:p.G162A;ATP5A1:NM_001257334:exon5:c.G419C:p.G140A;ATP5A1:NM_001001935:exon5:c.G335C:p.G112A;ATP5A1:NM_004046:exon5:c.G485C:p.G162A;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G419C:p.G140A;ENSG00000152234:ENST00000398752:exon5:c.G485C:p.G162A;ENSG00000152234:ENST00000282050:exon6:c.G485C:p.G162A;ENSG00000152234:ENST00000590324:exon6:c.G335C:p.G112A;ENSG00000152234:ENST00000593152:exon5:c.G335C:p.G112A;ENSG00000152234:ENST00000589869:exon5:c.G335C:p.G112A;ENSG00000152234:ENST00000589252:exon4:c.G218C:p.G73A;ENSG00000152234:ENST00000590406:exon6:c.G485C:p.G162A;	0.973762590473825	0.776
18	43669697	C	T	18	46089731	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G335A:p.G112D;ATP5A1:NM_001001937:exon6:c.G485A:p.G162D;ATP5A1:NM_001257334:exon5:c.G419A:p.G140D;ATP5A1:NM_001001935:exon5:c.G335A:p.G112D;ATP5A1:NM_004046:exon5:c.G485A:p.G162D;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G419A:p.G140D;ENSG00000152234:ENST00000398752:exon5:c.G485A:p.G162D;ENSG00000152234:ENST00000282050:exon6:c.G485A:p.G162D;ENSG00000152234:ENST00000590324:exon6:c.G335A:p.G112D;ENSG00000152234:ENST00000593152:exon5:c.G335A:p.G112D;ENSG00000152234:ENST00000589869:exon5:c.G335A:p.G112D;ENSG00000152234:ENST00000589252:exon4:c.G218A:p.G73D;ENSG00000152234:ENST00000590406:exon6:c.G485A:p.G162D;	0.97690532075346	0.77
18	43669698	C	A	18	46089732	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G334T:p.G112C;ATP5A1:NM_001001937:exon6:c.G484T:p.G162C;ATP5A1:NM_001257334:exon5:c.G418T:p.G140C;ATP5A1:NM_001001935:exon5:c.G334T:p.G112C;ATP5A1:NM_004046:exon5:c.G484T:p.G162C;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G418T:p.G140C;ENSG00000152234:ENST00000398752:exon5:c.G484T:p.G162C;ENSG00000152234:ENST00000282050:exon6:c.G484T:p.G162C;ENSG00000152234:ENST00000590324:exon6:c.G334T:p.G112C;ENSG00000152234:ENST00000593152:exon5:c.G334T:p.G112C;ENSG00000152234:ENST00000589869:exon5:c.G334T:p.G112C;ENSG00000152234:ENST00000589252:exon4:c.G217T:p.G73C;ENSG00000152234:ENST00000590406:exon6:c.G484T:p.G162C;	0.996260650954602	0.778
18	43669698	C	G	18	46089732	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G334C:p.G112R;ATP5A1:NM_001001937:exon6:c.G484C:p.G162R;ATP5A1:NM_001257334:exon5:c.G418C:p.G140R;ATP5A1:NM_001001935:exon5:c.G334C:p.G112R;ATP5A1:NM_004046:exon5:c.G484C:p.G162R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G418C:p.G140R;ENSG00000152234:ENST00000398752:exon5:c.G484C:p.G162R;ENSG00000152234:ENST00000282050:exon6:c.G484C:p.G162R;ENSG00000152234:ENST00000590324:exon6:c.G334C:p.G112R;ENSG00000152234:ENST00000593152:exon5:c.G334C:p.G112R;ENSG00000152234:ENST00000589869:exon5:c.G334C:p.G112R;ENSG00000152234:ENST00000589252:exon4:c.G217C:p.G73R;ENSG00000152234:ENST00000590406:exon6:c.G484C:p.G162R;	0.997473835058839	0.822
18	43669698	C	T	18	46089732	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon5:c.G334A:p.G112S;ATP5A1:NM_001001937:exon6:c.G484A:p.G162S;ATP5A1:NM_001257334:exon5:c.G418A:p.G140S;ATP5A1:NM_001001935:exon5:c.G334A:p.G112S;ATP5A1:NM_004046:exon5:c.G484A:p.G162S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon5:c.G418A:p.G140S;ENSG00000152234:ENST00000398752:exon5:c.G484A:p.G162S;ENSG00000152234:ENST00000282050:exon6:c.G484A:p.G162S;ENSG00000152234:ENST00000590324:exon6:c.G334A:p.G112S;ENSG00000152234:ENST00000593152:exon5:c.G334A:p.G112S;ENSG00000152234:ENST00000589869:exon5:c.G334A:p.G112S;ENSG00000152234:ENST00000589252:exon4:c.G217A:p.G73S;ENSG00000152234:ENST00000590406:exon6:c.G484A:p.G162S;	0.997116571196113	0.752
18	43669699	C	A	18	46089733	y	y	splicing	ATP5A1(NM_001257335:exon6:c.334-1G>T;NM_001001935:exon6:c.334-1G>T;NM_001257334:exon6:c.418-1G>T;NM_004046:exon6:c.484-1G>T;NM_001001937:exon7:c.484-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.484-1G>T;ENST00000593152:exon6:c.334-1G>T;ENST00000398752:exon6:c.484-1G>T;ENST00000586592:exon6:c.820-1G>T;ENST00000590665:exon6:c.418-1G>T;ENST00000590156:exon6:c.557-1G>T;ENST00000589252:exon5:c.217-1G>T;ENST00000589869:exon6:c.334-1G>T;ENST00000590406:exon7:c.484-1G>T;ENST00000590324:exon7:c.334-1G>T)	.	.	0.999986675681007	0.936
18	43669699	C	G	18	46089733	y	y	splicing	ATP5A1(NM_001257335:exon6:c.334-1G>C;NM_001001935:exon6:c.334-1G>C;NM_001257334:exon6:c.418-1G>C;NM_004046:exon6:c.484-1G>C;NM_001001937:exon7:c.484-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.484-1G>C;ENST00000593152:exon6:c.334-1G>C;ENST00000398752:exon6:c.484-1G>C;ENST00000586592:exon6:c.820-1G>C;ENST00000590665:exon6:c.418-1G>C;ENST00000590156:exon6:c.557-1G>C;ENST00000589252:exon5:c.217-1G>C;ENST00000589869:exon6:c.334-1G>C;ENST00000590406:exon7:c.484-1G>C;ENST00000590324:exon7:c.334-1G>C)	.	.	0.999986675681007	0.936
18	43669699	C	T	18	46089733	y	y	splicing	ATP5A1(NM_001257335:exon6:c.334-1G>A;NM_001001935:exon6:c.334-1G>A;NM_001257334:exon6:c.418-1G>A;NM_004046:exon6:c.484-1G>A;NM_001001937:exon7:c.484-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.484-1G>A;ENST00000593152:exon6:c.334-1G>A;ENST00000398752:exon6:c.484-1G>A;ENST00000586592:exon6:c.820-1G>A;ENST00000590665:exon6:c.418-1G>A;ENST00000590156:exon6:c.557-1G>A;ENST00000589252:exon5:c.217-1G>A;ENST00000589869:exon6:c.334-1G>A;ENST00000590406:exon7:c.484-1G>A;ENST00000590324:exon7:c.334-1G>A)	.	.	0.999986675681007	0.936
18	43669700	T	A	18	46089734	y	y	splicing	ATP5A1(NM_001257335:exon6:c.334-2A>T;NM_001001935:exon6:c.334-2A>T;NM_001257334:exon6:c.418-2A>T;NM_004046:exon6:c.484-2A>T;NM_001001937:exon7:c.484-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.484-2A>T;ENST00000593152:exon6:c.334-2A>T;ENST00000398752:exon6:c.484-2A>T;ENST00000586592:exon6:c.820-2A>T;ENST00000590665:exon6:c.418-2A>T;ENST00000590156:exon6:c.557-2A>T;ENST00000589252:exon5:c.217-2A>T;ENST00000589869:exon6:c.334-2A>T;ENST00000590406:exon7:c.484-2A>T;ENST00000590324:exon7:c.334-2A>T)	.	.	0.999993519952936	0.928
18	43669700	T	C	18	46089734	y	y	splicing	ATP5A1(NM_001257335:exon6:c.334-2A>G;NM_001001935:exon6:c.334-2A>G;NM_001257334:exon6:c.418-2A>G;NM_004046:exon6:c.484-2A>G;NM_001001937:exon7:c.484-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.484-2A>G;ENST00000593152:exon6:c.334-2A>G;ENST00000398752:exon6:c.484-2A>G;ENST00000586592:exon6:c.820-2A>G;ENST00000590665:exon6:c.418-2A>G;ENST00000590156:exon6:c.557-2A>G;ENST00000589252:exon5:c.217-2A>G;ENST00000589869:exon6:c.334-2A>G;ENST00000590406:exon7:c.484-2A>G;ENST00000590324:exon7:c.334-2A>G)	.	.	0.999993519952936	0.928
18	43669700	T	G	18	46089734	y	y	splicing	ATP5A1(NM_001257335:exon6:c.334-2A>C;NM_001001935:exon6:c.334-2A>C;NM_001257334:exon6:c.418-2A>C;NM_004046:exon6:c.484-2A>C;NM_001001937:exon7:c.484-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon7:c.484-2A>C;ENST00000593152:exon6:c.334-2A>C;ENST00000398752:exon6:c.484-2A>C;ENST00000586592:exon6:c.820-2A>C;ENST00000590665:exon6:c.418-2A>C;ENST00000590156:exon6:c.557-2A>C;ENST00000589252:exon5:c.217-2A>C;ENST00000589869:exon6:c.334-2A>C;ENST00000590406:exon7:c.484-2A>C;ENST00000590324:exon7:c.334-2A>C)	.	.	0.999993519952936	0.928
18	43669701	G	A	18	46089735	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00330536994446245	0.2
18	43669701	G	C	18	46089735	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999833402956998	0.868
18	43669701	G	T	18	46089735	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.249949534128245	0.5
18	43669702	T	A	18	46089736	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.62719671180172E-4	0.024
18	43669702	T	C	18	46089736	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.79636596072873	0.64
18	43669702	T	G	18	46089736	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.05866673120307E-4	0.006
18	43669703	T	A	18	46089737	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.62668118059145E-5	0.172
18	43669703	T	C	18	46089737	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.888366388103E-5	0.038
18	43669703	T	G	18	46089737	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.48008119724696E-5	0.122
18	43669704	A	C	18	46089738	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.37969430358004E-4	0.34
18	43669704	A	G	18	46089738	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.10368363346246E-6	0.004
18	43669704	A	T	18	46089738	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.62372550129694E-4	0.288
18	43669705	A	C	18	46089739	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.77339662067322E-4	0.194
18	43669705	A	G	18	46089739	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.34664738648438E-5	0.004
18	43669705	A	T	18	46089739	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00267392812739613	0.212
18	43669706	A	C	18	46089740	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.42324147782209E-4	0.028
18	43669706	A	G	18	46089740	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.06017479955991E-5	0.0
18	43669706	A	T	18	46089740	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.02600226500439E-4	0.058
18	43669707	A	C	18	46089741	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.42150416292057E-4	0.076
18	43669707	A	G	18	46089741	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.36233514383013E-5	0.0
18	43669707	A	T	18	46089741	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.40172087014261E-4	0.074
18	43669708	A	C	18	46089742	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.96119914231966E-4	0.266
18	43669708	A	G	18	46089742	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.57719501681102E-5	0.002
18	43669708	A	T	18	46089742	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0144821487235075	0.42
18	43669709	A	C	18	46089743	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.997482124649217	0.812
18	43669709	A	G	18	46089743	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.71966746324743E-5	0.084
18	43669709	A	T	18	46089743	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0142990593131228	0.38
18	43669710	T	A	18	46089744	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.0348646938723E-5	0.086
18	43669710	T	C	18	46089744	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.34628757972855E-5	0.064
18	43669710	T	G	18	46089744	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.48008119724696E-5	0.076
18	43669781	A	C	18	46089815	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.81447695525977E-5	0.0
18	43669781	A	G	18	46089815	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.24711059529166E-5	0.0
18	43669781	A	T	18	46089815	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.04385366056624E-5	0.002
18	43669782	A	C	18	46089816	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.63708892041079E-6	0.0
18	43669782	A	G	18	46089816	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.88275000086081E-5	0.0
18	43669782	A	T	18	46089816	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.3183663440686E-5	0.0
18	43669783	A	C	18	46089817	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00307605691503314	0.18
18	43669783	A	G	18	46089817	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00685623615987129	0.228
18	43669783	A	T	18	46089817	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00900512019466565	0.158
18	43669784	C	A	18	46089818	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.983694744515429	0.616
18	43669784	C	G	18	46089818	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.972005525099499	0.618
18	43669784	C	T	18	46089818	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.745786896204097	0.408
18	43669785	C	A	18	46089819	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.01736204740804E-4	0.04
18	43669785	C	G	18	46089819	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.80239099060678E-4	0.1
18	43669785	C	T	18	46089819	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.8450418852864E-4	0.118
18	43669786	T	A	18	46089820	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.36725570436895	0.434
18	43669786	T	C	18	46089820	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00965262719707707	0.108
18	43669786	T	G	18	46089820	y	n	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.726429057536297	0.502
18	43669787	A	C	18	46089821	y	n	splicing	ATP5A1(NM_001257335:exon5:c.333+2T>G;NM_001001935:exon5:c.333+2T>G;NM_004046:exon5:c.483+2T>G;NM_001001937:exon6:c.483+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.483+2T>G;ENST00000593152:exon5:c.333+2T>G;ENST00000398752:exon5:c.483+2T>G;ENST00000586592:exon5:c.819+2T>G;ENST00000590156:exon5:c.556+2T>G;ENST00000589252:exon4:c.216+2T>G;ENST00000589869:exon5:c.333+2T>G;ENST00000590406:exon6:c.483+2T>G;ENST00000590324:exon6:c.333+2T>G)	.	.	0.999989917668626	0.926
18	43669787	A	G	18	46089821	y	n	splicing	ATP5A1(NM_001257335:exon5:c.333+2T>C;NM_001001935:exon5:c.333+2T>C;NM_004046:exon5:c.483+2T>C;NM_001001937:exon6:c.483+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.483+2T>C;ENST00000593152:exon5:c.333+2T>C;ENST00000398752:exon5:c.483+2T>C;ENST00000586592:exon5:c.819+2T>C;ENST00000590156:exon5:c.556+2T>C;ENST00000589252:exon4:c.216+2T>C;ENST00000589869:exon5:c.333+2T>C;ENST00000590406:exon6:c.483+2T>C;ENST00000590324:exon6:c.333+2T>C)	.	.	0.985266808656705	0.62
18	43669787	A	T	18	46089821	y	n	splicing	ATP5A1(NM_001257335:exon5:c.333+2T>A;NM_001001935:exon5:c.333+2T>A;NM_004046:exon5:c.483+2T>A;NM_001001937:exon6:c.483+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.483+2T>A;ENST00000593152:exon5:c.333+2T>A;ENST00000398752:exon5:c.483+2T>A;ENST00000586592:exon5:c.819+2T>A;ENST00000590156:exon5:c.556+2T>A;ENST00000589252:exon4:c.216+2T>A;ENST00000589869:exon5:c.333+2T>A;ENST00000590406:exon6:c.483+2T>A;ENST00000590324:exon6:c.333+2T>A)	.	.	0.999989917668626	0.926
18	43669788	C	A	18	46089822	y	n	splicing	ATP5A1(NM_001257335:exon5:c.333+1G>T;NM_001001935:exon5:c.333+1G>T;NM_004046:exon5:c.483+1G>T;NM_001001937:exon6:c.483+1G>T)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon6:c.483+1G>T;ENST00000593152:exon5:c.333+1G>T;ENST00000398752:exon5:c.483+1G>T;ENST00000586592:exon5:c.819+1G>T;ENST00000590156:exon5:c.556+1G>T;ENST00000589252:exon4:c.216+1G>T;ENST00000589869:exon5:c.333+1G>T;ENST00000590406:exon6:c.483+1G>T;ENST00000590324:exon6:c.333+1G>T)	unknown	UNKNOWN	0.999986675681007	0.936
18	43669788	C	G	18	46089822	y	n	splicing	ATP5A1(NM_001257335:exon5:c.333+1G>C;NM_001001935:exon5:c.333+1G>C;NM_004046:exon5:c.483+1G>C;NM_001001937:exon6:c.483+1G>C)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon6:c.483+1G>C;ENST00000593152:exon5:c.333+1G>C;ENST00000398752:exon5:c.483+1G>C;ENST00000586592:exon5:c.819+1G>C;ENST00000590156:exon5:c.556+1G>C;ENST00000589252:exon4:c.216+1G>C;ENST00000589869:exon5:c.333+1G>C;ENST00000590406:exon6:c.483+1G>C;ENST00000590324:exon6:c.333+1G>C)	unknown	UNKNOWN	0.999986675681007	0.934
18	43669788	C	T	18	46089822	y	n	splicing	ATP5A1(NM_001257335:exon5:c.333+1G>A;NM_001001935:exon5:c.333+1G>A;NM_004046:exon5:c.483+1G>A;NM_001001937:exon6:c.483+1G>A)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon6:c.483+1G>A;ENST00000593152:exon5:c.333+1G>A;ENST00000398752:exon5:c.483+1G>A;ENST00000586592:exon5:c.819+1G>A;ENST00000590156:exon5:c.556+1G>A;ENST00000589252:exon4:c.216+1G>A;ENST00000589869:exon5:c.333+1G>A;ENST00000590406:exon6:c.483+1G>A;ENST00000590324:exon6:c.333+1G>A)	unknown	UNKNOWN	0.999986675681007	0.936
18	43669789	C	A	18	46089823	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.G333T:p.K111N;ATP5A1:NM_001001937:exon5:c.G483T:p.K161N;ATP5A1:NM_001001935:exon4:c.G333T:p.K111N;ATP5A1:NM_004046:exon4:c.G483T:p.K161N;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000398752:exon4:c.G483T:p.K161N;ENSG00000152234:ENST00000282050:exon5:c.G483T:p.K161N;ENSG00000152234:ENST00000590324:exon5:c.G333T:p.K111N;ENSG00000152234:ENST00000593152:exon4:c.G333T:p.K111N;ENSG00000152234:ENST00000589869:exon4:c.G333T:p.K111N;ENSG00000152234:ENST00000589252:exon3:c.G216T:p.K72N;ENSG00000152234:ENST00000592989:exon4:c.G333T:p.K111N;ENSG00000152234:ENST00000590406:exon5:c.G483T:p.K161N;	0.999965192089784	0.996
18	43669789	C	G	18	46089823	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.G333C:p.K111N;ATP5A1:NM_001001937:exon5:c.G483C:p.K161N;ATP5A1:NM_001001935:exon4:c.G333C:p.K111N;ATP5A1:NM_004046:exon4:c.G483C:p.K161N;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000398752:exon4:c.G483C:p.K161N;ENSG00000152234:ENST00000282050:exon5:c.G483C:p.K161N;ENSG00000152234:ENST00000590324:exon5:c.G333C:p.K111N;ENSG00000152234:ENST00000593152:exon4:c.G333C:p.K111N;ENSG00000152234:ENST00000589869:exon4:c.G333C:p.K111N;ENSG00000152234:ENST00000589252:exon3:c.G216C:p.K72N;ENSG00000152234:ENST00000592989:exon4:c.G333C:p.K111N;ENSG00000152234:ENST00000590406:exon5:c.G483C:p.K161N;	0.999956650722314	0.956
18	43669789	C	T	18	46089823	y	n	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon4:c.G333A:p.K111K;ATP5A1:NM_001001937:exon5:c.G483A:p.K161K;ATP5A1:NM_001001935:exon4:c.G333A:p.K111K;ATP5A1:NM_004046:exon4:c.G483A:p.K161K;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000398752:exon4:c.G483A:p.K161K;ENSG00000152234:ENST00000282050:exon5:c.G483A:p.K161K;ENSG00000152234:ENST00000590324:exon5:c.G333A:p.K111K;ENSG00000152234:ENST00000593152:exon4:c.G333A:p.K111K;ENSG00000152234:ENST00000589869:exon4:c.G333A:p.K111K;ENSG00000152234:ENST00000589252:exon3:c.G216A:p.K72K;ENSG00000152234:ENST00000592989:exon4:c.G333A:p.K111K;ENSG00000152234:ENST00000590406:exon5:c.G483A:p.K161K;	0.998745786397803	0.988
18	43669790	T	A	18	46089824	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.A332T:p.K111M;ATP5A1:NM_001001937:exon5:c.A482T:p.K161M;ATP5A1:NM_001001935:exon4:c.A332T:p.K111M;ATP5A1:NM_004046:exon4:c.A482T:p.K161M;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000398752:exon4:c.A482T:p.K161M;ENSG00000152234:ENST00000282050:exon5:c.A482T:p.K161M;ENSG00000152234:ENST00000590324:exon5:c.A332T:p.K111M;ENSG00000152234:ENST00000593152:exon4:c.A332T:p.K111M;ENSG00000152234:ENST00000589869:exon4:c.A332T:p.K111M;ENSG00000152234:ENST00000589252:exon3:c.A215T:p.K72M;ENSG00000152234:ENST00000592989:exon4:c.A332T:p.K111M;ENSG00000152234:ENST00000590406:exon5:c.A482T:p.K161M;	0.998924863623491	0.958
18	43669790	T	C	18	46089824	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.A332G:p.K111R;ATP5A1:NM_001001937:exon5:c.A482G:p.K161R;ATP5A1:NM_001001935:exon4:c.A332G:p.K111R;ATP5A1:NM_004046:exon4:c.A482G:p.K161R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000398752:exon4:c.A482G:p.K161R;ENSG00000152234:ENST00000282050:exon5:c.A482G:p.K161R;ENSG00000152234:ENST00000590324:exon5:c.A332G:p.K111R;ENSG00000152234:ENST00000593152:exon4:c.A332G:p.K111R;ENSG00000152234:ENST00000589869:exon4:c.A332G:p.K111R;ENSG00000152234:ENST00000589252:exon3:c.A215G:p.K72R;ENSG00000152234:ENST00000592989:exon4:c.A332G:p.K111R;ENSG00000152234:ENST00000590406:exon5:c.A482G:p.K161R;	0.999552081939045	0.978
18	43669790	T	G	18	46089824	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.A332C:p.K111T;ATP5A1:NM_001001937:exon5:c.A482C:p.K161T;ATP5A1:NM_001001935:exon4:c.A332C:p.K111T;ATP5A1:NM_004046:exon4:c.A482C:p.K161T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000398752:exon4:c.A482C:p.K161T;ENSG00000152234:ENST00000282050:exon5:c.A482C:p.K161T;ENSG00000152234:ENST00000590324:exon5:c.A332C:p.K111T;ENSG00000152234:ENST00000593152:exon4:c.A332C:p.K111T;ENSG00000152234:ENST00000589869:exon4:c.A332C:p.K111T;ENSG00000152234:ENST00000589252:exon3:c.A215C:p.K72T;ENSG00000152234:ENST00000592989:exon4:c.A332C:p.K111T;ENSG00000152234:ENST00000590406:exon5:c.A482C:p.K161T;	0.989264548007051	0.934
18	43669791	T	A	18	46089825	y	n	exonic	ATP5A1	stopgain SNV	ATP5A1:NM_001257335:exon4:c.A331T:p.K111X;ATP5A1:NM_001001937:exon5:c.A481T:p.K161X;ATP5A1:NM_001001935:exon4:c.A331T:p.K111X;ATP5A1:NM_004046:exon4:c.A481T:p.K161X;	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000398752:exon4:c.A481T:p.K161X;ENSG00000152234:ENST00000282050:exon5:c.A481T:p.K161X;ENSG00000152234:ENST00000590324:exon5:c.A331T:p.K111X;ENSG00000152234:ENST00000593152:exon4:c.A331T:p.K111X;ENSG00000152234:ENST00000589869:exon4:c.A331T:p.K111X;ENSG00000152234:ENST00000589252:exon3:c.A214T:p.K72X;ENSG00000152234:ENST00000592989:exon4:c.A331T:p.K111X;ENSG00000152234:ENST00000590406:exon5:c.A481T:p.K161X;	0.951569050747045	0.676
18	43669791	T	C	18	46089825	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.A331G:p.K111E;ATP5A1:NM_001001937:exon5:c.A481G:p.K161E;ATP5A1:NM_001001935:exon4:c.A331G:p.K111E;ATP5A1:NM_004046:exon4:c.A481G:p.K161E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000398752:exon4:c.A481G:p.K161E;ENSG00000152234:ENST00000282050:exon5:c.A481G:p.K161E;ENSG00000152234:ENST00000590324:exon5:c.A331G:p.K111E;ENSG00000152234:ENST00000593152:exon4:c.A331G:p.K111E;ENSG00000152234:ENST00000589869:exon4:c.A331G:p.K111E;ENSG00000152234:ENST00000589252:exon3:c.A214G:p.K72E;ENSG00000152234:ENST00000592989:exon4:c.A331G:p.K111E;ENSG00000152234:ENST00000590406:exon5:c.A481G:p.K161E;	0.0565520364674781	0.344
18	43669791	T	G	18	46089825	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.A331C:p.K111Q;ATP5A1:NM_001001937:exon5:c.A481C:p.K161Q;ATP5A1:NM_001001935:exon4:c.A331C:p.K111Q;ATP5A1:NM_004046:exon4:c.A481C:p.K161Q;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000398752:exon4:c.A481C:p.K161Q;ENSG00000152234:ENST00000282050:exon5:c.A481C:p.K161Q;ENSG00000152234:ENST00000590324:exon5:c.A331C:p.K111Q;ENSG00000152234:ENST00000593152:exon4:c.A331C:p.K111Q;ENSG00000152234:ENST00000589869:exon4:c.A331C:p.K111Q;ENSG00000152234:ENST00000589252:exon3:c.A214C:p.K72Q;ENSG00000152234:ENST00000592989:exon4:c.A331C:p.K111Q;ENSG00000152234:ENST00000590406:exon5:c.A481C:p.K161Q;	0.483218339461027	0.498
18	43669961	C	A	18	46089995	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.G161T:p.G54V;ATP5A1:NM_001001937:exon5:c.G311T:p.G104V;ATP5A1:NM_001257334:exon4:c.G311T:p.G104V;ATP5A1:NM_001001935:exon4:c.G161T:p.G54V;ATP5A1:NM_004046:exon4:c.G311T:p.G104V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon4:c.G311T:p.G104V;ENSG00000152234:ENST00000398752:exon4:c.G311T:p.G104V;ENSG00000152234:ENST00000282050:exon5:c.G311T:p.G104V;ENSG00000152234:ENST00000590324:exon5:c.G161T:p.G54V;ENSG00000152234:ENST00000593152:exon4:c.G161T:p.G54V;ENSG00000152234:ENST00000589869:exon4:c.G161T:p.G54V;ENSG00000152234:ENST00000592989:exon4:c.G161T:p.G54V;ENSG00000152234:ENST00000590406:exon5:c.G311T:p.G104V;	0.975472270607016	0.832
18	43669961	C	G	18	46089995	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.G161C:p.G54A;ATP5A1:NM_001001937:exon5:c.G311C:p.G104A;ATP5A1:NM_001257334:exon4:c.G311C:p.G104A;ATP5A1:NM_001001935:exon4:c.G161C:p.G54A;ATP5A1:NM_004046:exon4:c.G311C:p.G104A;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon4:c.G311C:p.G104A;ENSG00000152234:ENST00000398752:exon4:c.G311C:p.G104A;ENSG00000152234:ENST00000282050:exon5:c.G311C:p.G104A;ENSG00000152234:ENST00000590324:exon5:c.G161C:p.G54A;ENSG00000152234:ENST00000593152:exon4:c.G161C:p.G54A;ENSG00000152234:ENST00000589869:exon4:c.G161C:p.G54A;ENSG00000152234:ENST00000592989:exon4:c.G161C:p.G54A;ENSG00000152234:ENST00000590406:exon5:c.G311C:p.G104A;	0.943543649512328	0.826
18	43669961	C	T	18	46089995	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.G161A:p.G54D;ATP5A1:NM_001001937:exon5:c.G311A:p.G104D;ATP5A1:NM_001257334:exon4:c.G311A:p.G104D;ATP5A1:NM_001001935:exon4:c.G161A:p.G54D;ATP5A1:NM_004046:exon4:c.G311A:p.G104D;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon4:c.G311A:p.G104D;ENSG00000152234:ENST00000398752:exon4:c.G311A:p.G104D;ENSG00000152234:ENST00000282050:exon5:c.G311A:p.G104D;ENSG00000152234:ENST00000590324:exon5:c.G161A:p.G54D;ENSG00000152234:ENST00000593152:exon4:c.G161A:p.G54D;ENSG00000152234:ENST00000589869:exon4:c.G161A:p.G54D;ENSG00000152234:ENST00000592989:exon4:c.G161A:p.G54D;ENSG00000152234:ENST00000590406:exon5:c.G311A:p.G104D;	0.990748539778645	0.81
18	43669962	C	A	18	46089996	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.G160T:p.G54C;ATP5A1:NM_001001937:exon5:c.G310T:p.G104C;ATP5A1:NM_001257334:exon4:c.G310T:p.G104C;ATP5A1:NM_001001935:exon4:c.G160T:p.G54C;ATP5A1:NM_004046:exon4:c.G310T:p.G104C;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon4:c.G310T:p.G104C;ENSG00000152234:ENST00000398752:exon4:c.G310T:p.G104C;ENSG00000152234:ENST00000282050:exon5:c.G310T:p.G104C;ENSG00000152234:ENST00000590324:exon5:c.G160T:p.G54C;ENSG00000152234:ENST00000593152:exon4:c.G160T:p.G54C;ENSG00000152234:ENST00000589869:exon4:c.G160T:p.G54C;ENSG00000152234:ENST00000592989:exon4:c.G160T:p.G54C;ENSG00000152234:ENST00000590406:exon5:c.G310T:p.G104C;	0.999755916523862	0.966
18	43669962	C	G	18	46089996	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.G160C:p.G54R;ATP5A1:NM_001001937:exon5:c.G310C:p.G104R;ATP5A1:NM_001257334:exon4:c.G310C:p.G104R;ATP5A1:NM_001001935:exon4:c.G160C:p.G54R;ATP5A1:NM_004046:exon4:c.G310C:p.G104R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon4:c.G310C:p.G104R;ENSG00000152234:ENST00000398752:exon4:c.G310C:p.G104R;ENSG00000152234:ENST00000282050:exon5:c.G310C:p.G104R;ENSG00000152234:ENST00000590324:exon5:c.G160C:p.G54R;ENSG00000152234:ENST00000593152:exon4:c.G160C:p.G54R;ENSG00000152234:ENST00000589869:exon4:c.G160C:p.G54R;ENSG00000152234:ENST00000592989:exon4:c.G160C:p.G54R;ENSG00000152234:ENST00000590406:exon5:c.G310C:p.G104R;	0.999379047719925	0.916
18	43669962	C	T	18	46089996	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon4:c.G160A:p.G54S;ATP5A1:NM_001001937:exon5:c.G310A:p.G104S;ATP5A1:NM_001257334:exon4:c.G310A:p.G104S;ATP5A1:NM_001001935:exon4:c.G160A:p.G54S;ATP5A1:NM_004046:exon4:c.G310A:p.G104S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon4:c.G310A:p.G104S;ENSG00000152234:ENST00000398752:exon4:c.G310A:p.G104S;ENSG00000152234:ENST00000282050:exon5:c.G310A:p.G104S;ENSG00000152234:ENST00000590324:exon5:c.G160A:p.G54S;ENSG00000152234:ENST00000593152:exon4:c.G160A:p.G54S;ENSG00000152234:ENST00000589869:exon4:c.G160A:p.G54S;ENSG00000152234:ENST00000592989:exon4:c.G160A:p.G54S;ENSG00000152234:ENST00000590406:exon5:c.G310A:p.G104S;	0.998824979956101	0.932
18	43669963	C	A	18	46089997	y	y	splicing	ATP5A1(NM_001257335:exon5:c.160-1G>T;NM_001001935:exon5:c.160-1G>T;NM_001257334:exon5:c.310-1G>T;NM_004046:exon5:c.310-1G>T;NM_001001937:exon6:c.310-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.310-1G>T;ENST00000593152:exon5:c.160-1G>T;ENST00000398752:exon5:c.310-1G>T;ENST00000586592:exon5:c.646-1G>T;ENST00000590665:exon5:c.310-1G>T;ENST00000590156:exon5:c.383-1G>T;ENST00000589869:exon5:c.160-1G>T;ENST00000590406:exon6:c.310-1G>T;ENST00000590324:exon6:c.160-1G>T;ENST00000592989:exon5:c.160-1G>T;ENST00000591981:exon5:c.326-1G>T;ENST00000585650:exon6:c.471-1G>T)	.	.	0.999981760802075	0.934
18	43669963	C	G	18	46089997	y	y	splicing	ATP5A1(NM_001257335:exon5:c.160-1G>C;NM_001001935:exon5:c.160-1G>C;NM_001257334:exon5:c.310-1G>C;NM_004046:exon5:c.310-1G>C;NM_001001937:exon6:c.310-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.310-1G>C;ENST00000593152:exon5:c.160-1G>C;ENST00000398752:exon5:c.310-1G>C;ENST00000586592:exon5:c.646-1G>C;ENST00000590665:exon5:c.310-1G>C;ENST00000590156:exon5:c.383-1G>C;ENST00000589869:exon5:c.160-1G>C;ENST00000590406:exon6:c.310-1G>C;ENST00000590324:exon6:c.160-1G>C;ENST00000592989:exon5:c.160-1G>C;ENST00000591981:exon5:c.326-1G>C;ENST00000585650:exon6:c.471-1G>C)	.	.	0.999981760802075	0.934
18	43669963	C	T	18	46089997	y	y	splicing	ATP5A1(NM_001257335:exon5:c.160-1G>A;NM_001001935:exon5:c.160-1G>A;NM_001257334:exon5:c.310-1G>A;NM_004046:exon5:c.310-1G>A;NM_001001937:exon6:c.310-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.310-1G>A;ENST00000593152:exon5:c.160-1G>A;ENST00000398752:exon5:c.310-1G>A;ENST00000586592:exon5:c.646-1G>A;ENST00000590665:exon5:c.310-1G>A;ENST00000590156:exon5:c.383-1G>A;ENST00000589869:exon5:c.160-1G>A;ENST00000590406:exon6:c.310-1G>A;ENST00000590324:exon6:c.160-1G>A;ENST00000592989:exon5:c.160-1G>A;ENST00000591981:exon5:c.326-1G>A;ENST00000585650:exon6:c.471-1G>A)	.	.	0.999981760802075	0.934
18	43669964	T	A	18	46089998	y	y	splicing	ATP5A1(NM_001257335:exon5:c.160-2A>T;NM_001001935:exon5:c.160-2A>T;NM_001257334:exon5:c.310-2A>T;NM_004046:exon5:c.310-2A>T;NM_001001937:exon6:c.310-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.310-2A>T;ENST00000593152:exon5:c.160-2A>T;ENST00000398752:exon5:c.310-2A>T;ENST00000586592:exon5:c.646-2A>T;ENST00000590665:exon5:c.310-2A>T;ENST00000590156:exon5:c.383-2A>T;ENST00000589869:exon5:c.160-2A>T;ENST00000590406:exon6:c.310-2A>T;ENST00000590324:exon6:c.160-2A>T;ENST00000592989:exon5:c.160-2A>T;ENST00000591981:exon5:c.326-2A>T;ENST00000585650:exon6:c.471-2A>T)	.	.	0.999989917668626	0.92
18	43669964	T	C	18	46089998	y	y	splicing	ATP5A1(NM_001257335:exon5:c.160-2A>G;NM_001001935:exon5:c.160-2A>G;NM_001257334:exon5:c.310-2A>G;NM_004046:exon5:c.310-2A>G;NM_001001937:exon6:c.310-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.310-2A>G;ENST00000593152:exon5:c.160-2A>G;ENST00000398752:exon5:c.310-2A>G;ENST00000586592:exon5:c.646-2A>G;ENST00000590665:exon5:c.310-2A>G;ENST00000590156:exon5:c.383-2A>G;ENST00000589869:exon5:c.160-2A>G;ENST00000590406:exon6:c.310-2A>G;ENST00000590324:exon6:c.160-2A>G;ENST00000592989:exon5:c.160-2A>G;ENST00000591981:exon5:c.326-2A>G;ENST00000585650:exon6:c.471-2A>G)	.	.	0.999989917668626	0.918
18	43669964	T	G	18	46089998	y	y	splicing	ATP5A1(NM_001257335:exon5:c.160-2A>C;NM_001001935:exon5:c.160-2A>C;NM_001257334:exon5:c.310-2A>C;NM_004046:exon5:c.310-2A>C;NM_001001937:exon6:c.310-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon6:c.310-2A>C;ENST00000593152:exon5:c.160-2A>C;ENST00000398752:exon5:c.310-2A>C;ENST00000586592:exon5:c.646-2A>C;ENST00000590665:exon5:c.310-2A>C;ENST00000590156:exon5:c.383-2A>C;ENST00000589869:exon5:c.160-2A>C;ENST00000590406:exon6:c.310-2A>C;ENST00000590324:exon6:c.160-2A>C;ENST00000592989:exon5:c.160-2A>C;ENST00000591981:exon5:c.326-2A>C;ENST00000585650:exon6:c.471-2A>C)	.	.	0.999989917668626	0.918
18	43669965	G	A	18	46089999	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00369442561519258	0.068
18	43669965	G	C	18	46089999	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999416199877704	0.846
18	43669965	G	T	18	46089999	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.802281495725039	0.532
18	43669966	C	A	18	46090000	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.7103781900285E-5	0.012
18	43669966	C	G	18	46090000	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.15347994238064E-4	0.036
18	43669966	C	T	18	46090000	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.93146554835809E-4	0.048
18	43669967	A	C	18	46090001	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999584283451634	0.924
18	43669967	A	G	18	46090001	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.422989693288958	0.378
18	43669967	A	T	18	46090001	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999922542233811	0.94
18	43669968	C	A	18	46090002	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.11867550118582E-5	0.0
18	43669968	C	G	18	46090002	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.05781581965629E-4	0.012
18	43669968	C	T	18	46090002	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.94117428693428E-4	0.012
18	43669969	A	C	18	46090003	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.043847142549595	0.216
18	43669969	A	G	18	46090003	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.05429105859727E-4	0.11
18	43669969	A	T	18	46090003	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999768076244115	0.96
18	43669970	A	C	18	46090004	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.14608732389743	0.242
18	43669970	A	G	18	46090004	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.86004085561644E-4	0.058
18	43669970	A	T	18	46090004	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.19543652569356	0.284
18	43669971	A	C	18	46090005	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.288254457902052	0.376
18	43669971	A	G	18	46090005	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.00976149388009E-5	0.134
18	43669971	A	T	18	46090005	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.440578518170369	0.36
18	43669972	A	C	18	46090006	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.998523566593177	0.832
18	43669972	A	G	18	46090006	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.392874249504492	0.448
18	43669972	A	T	18	46090006	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.998729165174894	0.912
18	43669973	G	A	18	46090007	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0394649153420626	0.374
18	43669973	G	C	18	46090007	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0156513165184055	0.232
18	43669973	G	T	18	46090007	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0869421565049424	0.32
18	43669974	A	C	18	46090008	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.984075847174211	0.758
18	43669974	A	G	18	46090008	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00340261720794961	0.092
18	43669974	A	T	18	46090008	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.992040458687173	0.744
18	43671640	T	A	18	46091674	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.40698058803422E-4	0.014
18	43671640	T	C	18	46091674	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.73615205431852E-4	0.018
18	43671640	T	G	18	46091674	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.616925007394E-4	0.018
18	43671641	A	C	18	46091675	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.19936545054007E-4	0.0
18	43671641	A	G	18	46091675	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.47683093646091E-4	0.0
18	43671641	A	T	18	46091675	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.85022707370831E-4	0.0
18	43671642	A	C	18	46091676	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00426523120913508	0.242
18	43671642	A	G	18	46091676	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.172021428762256	0.372
18	43671642	A	T	18	46091676	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.255266284136963	0.224
18	43671643	T	A	18	46091677	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00495325891366528	0.104
18	43671643	T	C	18	46091677	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.45579597807772E-4	0.03
18	43671643	T	G	18	46091677	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00211886768149826	0.11
18	43671644	T	A	18	46091678	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.680432830433012	0.442
18	43671644	T	C	18	46091678	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.396365331359464	0.386
18	43671644	T	G	18	46091678	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.163898063589913	0.308
18	43671645	T	A	18	46091679	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.997975842437552	0.882
18	43671645	T	C	18	46091679	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.627567026713598	0.758
18	43671645	T	G	18	46091679	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999063324371393	0.862
18	43671646	A	C	18	46091680	y	y	splicing	ATP5A1(NM_001257335:exon4:c.159+2T>G;NM_001001935:exon4:c.159+2T>G;NM_001257334:exon4:c.309+2T>G;NM_004046:exon4:c.309+2T>G;NM_001001937:exon5:c.309+2T>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.309+2T>G;ENST00000593152:exon4:c.159+2T>G;ENST00000398752:exon4:c.309+2T>G;ENST00000586592:exon4:c.645+2T>G;ENST00000590665:exon4:c.309+2T>G;ENST00000590156:exon4:c.382+2T>G;ENST00000589869:exon4:c.159+2T>G;ENST00000590406:exon5:c.309+2T>G;ENST00000590324:exon5:c.159+2T>G;ENST00000592989:exon4:c.159+2T>G;ENST00000591981:exon4:c.325+2T>G;ENST00000585650:exon5:c.470+2T>G)	.	.	0.999989917668626	0.928
18	43671646	A	G	18	46091680	y	y	splicing	ATP5A1(NM_001257335:exon4:c.159+2T>C;NM_001001935:exon4:c.159+2T>C;NM_001257334:exon4:c.309+2T>C;NM_004046:exon4:c.309+2T>C;NM_001001937:exon5:c.309+2T>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.309+2T>C;ENST00000593152:exon4:c.159+2T>C;ENST00000398752:exon4:c.309+2T>C;ENST00000586592:exon4:c.645+2T>C;ENST00000590665:exon4:c.309+2T>C;ENST00000590156:exon4:c.382+2T>C;ENST00000589869:exon4:c.159+2T>C;ENST00000590406:exon5:c.309+2T>C;ENST00000590324:exon5:c.159+2T>C;ENST00000592989:exon4:c.159+2T>C;ENST00000591981:exon4:c.325+2T>C;ENST00000585650:exon5:c.470+2T>C)	.	.	0.993179459523591	0.626
18	43671646	A	T	18	46091680	y	y	splicing	ATP5A1(NM_001257335:exon4:c.159+2T>A;NM_001001935:exon4:c.159+2T>A;NM_001257334:exon4:c.309+2T>A;NM_004046:exon4:c.309+2T>A;NM_001001937:exon5:c.309+2T>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.309+2T>A;ENST00000593152:exon4:c.159+2T>A;ENST00000398752:exon4:c.309+2T>A;ENST00000586592:exon4:c.645+2T>A;ENST00000590665:exon4:c.309+2T>A;ENST00000590156:exon4:c.382+2T>A;ENST00000589869:exon4:c.159+2T>A;ENST00000590406:exon5:c.309+2T>A;ENST00000590324:exon5:c.159+2T>A;ENST00000592989:exon4:c.159+2T>A;ENST00000591981:exon4:c.325+2T>A;ENST00000585650:exon5:c.470+2T>A)	.	.	0.999989917668626	0.928
18	43671647	C	A	18	46091681	y	y	splicing	ATP5A1(NM_001257335:exon4:c.159+1G>T;NM_001001935:exon4:c.159+1G>T;NM_001257334:exon4:c.309+1G>T;NM_004046:exon4:c.309+1G>T;NM_001001937:exon5:c.309+1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.309+1G>T;ENST00000593152:exon4:c.159+1G>T;ENST00000398752:exon4:c.309+1G>T;ENST00000586592:exon4:c.645+1G>T;ENST00000590665:exon4:c.309+1G>T;ENST00000590156:exon4:c.382+1G>T;ENST00000589869:exon4:c.159+1G>T;ENST00000590406:exon5:c.309+1G>T;ENST00000590324:exon5:c.159+1G>T;ENST00000592989:exon4:c.159+1G>T;ENST00000591981:exon4:c.325+1G>T;ENST00000585650:exon5:c.470+1G>T)	.	.	0.999981760802075	0.944
18	43671647	C	G	18	46091681	y	y	splicing	ATP5A1(NM_001257335:exon4:c.159+1G>C;NM_001001935:exon4:c.159+1G>C;NM_001257334:exon4:c.309+1G>C;NM_004046:exon4:c.309+1G>C;NM_001001937:exon5:c.309+1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.309+1G>C;ENST00000593152:exon4:c.159+1G>C;ENST00000398752:exon4:c.309+1G>C;ENST00000586592:exon4:c.645+1G>C;ENST00000590665:exon4:c.309+1G>C;ENST00000590156:exon4:c.382+1G>C;ENST00000589869:exon4:c.159+1G>C;ENST00000590406:exon5:c.309+1G>C;ENST00000590324:exon5:c.159+1G>C;ENST00000592989:exon4:c.159+1G>C;ENST00000591981:exon4:c.325+1G>C;ENST00000585650:exon5:c.470+1G>C)	.	.	0.999981760802075	0.944
18	43671647	C	T	18	46091681	y	y	splicing	ATP5A1(NM_001257335:exon4:c.159+1G>A;NM_001001935:exon4:c.159+1G>A;NM_001257334:exon4:c.309+1G>A;NM_004046:exon4:c.309+1G>A;NM_001001937:exon5:c.309+1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.309+1G>A;ENST00000593152:exon4:c.159+1G>A;ENST00000398752:exon4:c.309+1G>A;ENST00000586592:exon4:c.645+1G>A;ENST00000590665:exon4:c.309+1G>A;ENST00000590156:exon4:c.382+1G>A;ENST00000589869:exon4:c.159+1G>A;ENST00000590406:exon5:c.309+1G>A;ENST00000590324:exon5:c.159+1G>A;ENST00000592989:exon4:c.159+1G>A;ENST00000591981:exon4:c.325+1G>A;ENST00000585650:exon5:c.470+1G>A)	.	.	0.999981760802075	0.944
18	43671648	C	A	18	46091682	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon3:c.G159T:p.K53N;ATP5A1:NM_001001937:exon4:c.G309T:p.K103N;ATP5A1:NM_001257334:exon3:c.G309T:p.K103N;ATP5A1:NM_001001935:exon3:c.G159T:p.K53N;ATP5A1:NM_004046:exon3:c.G309T:p.K103N;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G309T:p.K103N;ENSG00000152234:ENST00000398752:exon3:c.G309T:p.K103N;ENSG00000152234:ENST00000282050:exon4:c.G309T:p.K103N;ENSG00000152234:ENST00000590324:exon4:c.G159T:p.K53N;ENSG00000152234:ENST00000593152:exon3:c.G159T:p.K53N;ENSG00000152234:ENST00000589869:exon3:c.G159T:p.K53N;ENSG00000152234:ENST00000592989:exon3:c.G159T:p.K53N;ENSG00000152234:ENST00000590406:exon4:c.G309T:p.K103N;	0.999964342321349	0.982
18	43671648	C	G	18	46091682	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon3:c.G159C:p.K53N;ATP5A1:NM_001001937:exon4:c.G309C:p.K103N;ATP5A1:NM_001257334:exon3:c.G309C:p.K103N;ATP5A1:NM_001001935:exon3:c.G159C:p.K53N;ATP5A1:NM_004046:exon3:c.G309C:p.K103N;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G309C:p.K103N;ENSG00000152234:ENST00000398752:exon3:c.G309C:p.K103N;ENSG00000152234:ENST00000282050:exon4:c.G309C:p.K103N;ENSG00000152234:ENST00000590324:exon4:c.G159C:p.K53N;ENSG00000152234:ENST00000593152:exon3:c.G159C:p.K53N;ENSG00000152234:ENST00000589869:exon3:c.G159C:p.K53N;ENSG00000152234:ENST00000592989:exon3:c.G159C:p.K53N;ENSG00000152234:ENST00000590406:exon4:c.G309C:p.K103N;	0.99999706064642	1.0
18	43671648	C	T	18	46091682	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001257335:exon3:c.G159A:p.K53K;ATP5A1:NM_001001937:exon4:c.G309A:p.K103K;ATP5A1:NM_001257334:exon3:c.G309A:p.K103K;ATP5A1:NM_001001935:exon3:c.G159A:p.K53K;ATP5A1:NM_004046:exon3:c.G309A:p.K103K;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G309A:p.K103K;ENSG00000152234:ENST00000398752:exon3:c.G309A:p.K103K;ENSG00000152234:ENST00000282050:exon4:c.G309A:p.K103K;ENSG00000152234:ENST00000590324:exon4:c.G159A:p.K53K;ENSG00000152234:ENST00000593152:exon3:c.G159A:p.K53K;ENSG00000152234:ENST00000589869:exon3:c.G159A:p.K53K;ENSG00000152234:ENST00000592989:exon3:c.G159A:p.K53K;ENSG00000152234:ENST00000590406:exon4:c.G309A:p.K103K;	0.999913420805017	0.994
18	43671649	T	A	18	46091683	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon3:c.A158T:p.K53M;ATP5A1:NM_001001937:exon4:c.A308T:p.K103M;ATP5A1:NM_001257334:exon3:c.A308T:p.K103M;ATP5A1:NM_001001935:exon3:c.A158T:p.K53M;ATP5A1:NM_004046:exon3:c.A308T:p.K103M;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.A308T:p.K103M;ENSG00000152234:ENST00000398752:exon3:c.A308T:p.K103M;ENSG00000152234:ENST00000282050:exon4:c.A308T:p.K103M;ENSG00000152234:ENST00000590324:exon4:c.A158T:p.K53M;ENSG00000152234:ENST00000593152:exon3:c.A158T:p.K53M;ENSG00000152234:ENST00000589869:exon3:c.A158T:p.K53M;ENSG00000152234:ENST00000592989:exon3:c.A158T:p.K53M;ENSG00000152234:ENST00000590406:exon4:c.A308T:p.K103M;	0.999525275656701	0.984
18	43671649	T	C	18	46091683	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon3:c.A158G:p.K53R;ATP5A1:NM_001001937:exon4:c.A308G:p.K103R;ATP5A1:NM_001257334:exon3:c.A308G:p.K103R;ATP5A1:NM_001001935:exon3:c.A158G:p.K53R;ATP5A1:NM_004046:exon3:c.A308G:p.K103R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.A308G:p.K103R;ENSG00000152234:ENST00000398752:exon3:c.A308G:p.K103R;ENSG00000152234:ENST00000282050:exon4:c.A308G:p.K103R;ENSG00000152234:ENST00000590324:exon4:c.A158G:p.K53R;ENSG00000152234:ENST00000593152:exon3:c.A158G:p.K53R;ENSG00000152234:ENST00000589869:exon3:c.A158G:p.K53R;ENSG00000152234:ENST00000592989:exon3:c.A158G:p.K53R;ENSG00000152234:ENST00000590406:exon4:c.A308G:p.K103R;	0.999380151288936	0.964
18	43671649	T	G	18	46091683	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon3:c.A158C:p.K53T;ATP5A1:NM_001001937:exon4:c.A308C:p.K103T;ATP5A1:NM_001257334:exon3:c.A308C:p.K103T;ATP5A1:NM_001001935:exon3:c.A158C:p.K53T;ATP5A1:NM_004046:exon3:c.A308C:p.K103T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.A308C:p.K103T;ENSG00000152234:ENST00000398752:exon3:c.A308C:p.K103T;ENSG00000152234:ENST00000282050:exon4:c.A308C:p.K103T;ENSG00000152234:ENST00000590324:exon4:c.A158C:p.K53T;ENSG00000152234:ENST00000593152:exon3:c.A158C:p.K53T;ENSG00000152234:ENST00000589869:exon3:c.A158C:p.K53T;ENSG00000152234:ENST00000592989:exon3:c.A158C:p.K53T;ENSG00000152234:ENST00000590406:exon4:c.A308C:p.K103T;	0.985735787003432	0.832
18	43671650	T	A	18	46091684	y	y	exonic	ATP5A1	stopgain SNV	ATP5A1:NM_001257335:exon3:c.A157T:p.K53X;ATP5A1:NM_001001937:exon4:c.A307T:p.K103X;ATP5A1:NM_001257334:exon3:c.A307T:p.K103X;ATP5A1:NM_001001935:exon3:c.A157T:p.K53X;ATP5A1:NM_004046:exon3:c.A307T:p.K103X;	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590665:exon3:c.A307T:p.K103X;ENSG00000152234:ENST00000398752:exon3:c.A307T:p.K103X;ENSG00000152234:ENST00000282050:exon4:c.A307T:p.K103X;ENSG00000152234:ENST00000590324:exon4:c.A157T:p.K53X;ENSG00000152234:ENST00000593152:exon3:c.A157T:p.K53X;ENSG00000152234:ENST00000589869:exon3:c.A157T:p.K53X;ENSG00000152234:ENST00000592989:exon3:c.A157T:p.K53X;ENSG00000152234:ENST00000590406:exon4:c.A307T:p.K103X;	0.983601771547267	0.728
18	43671650	T	C	18	46091684	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon3:c.A157G:p.K53E;ATP5A1:NM_001001937:exon4:c.A307G:p.K103E;ATP5A1:NM_001257334:exon3:c.A307G:p.K103E;ATP5A1:NM_001001935:exon3:c.A157G:p.K53E;ATP5A1:NM_004046:exon3:c.A307G:p.K103E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.A307G:p.K103E;ENSG00000152234:ENST00000398752:exon3:c.A307G:p.K103E;ENSG00000152234:ENST00000282050:exon4:c.A307G:p.K103E;ENSG00000152234:ENST00000590324:exon4:c.A157G:p.K53E;ENSG00000152234:ENST00000593152:exon3:c.A157G:p.K53E;ENSG00000152234:ENST00000589869:exon3:c.A157G:p.K53E;ENSG00000152234:ENST00000592989:exon3:c.A157G:p.K53E;ENSG00000152234:ENST00000590406:exon4:c.A307G:p.K103E;	0.0896714108638888	0.484
18	43671650	T	G	18	46091684	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001257335:exon3:c.A157C:p.K53Q;ATP5A1:NM_001001937:exon4:c.A307C:p.K103Q;ATP5A1:NM_001257334:exon3:c.A307C:p.K103Q;ATP5A1:NM_001001935:exon3:c.A157C:p.K53Q;ATP5A1:NM_004046:exon3:c.A307C:p.K103Q;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.A307C:p.K103Q;ENSG00000152234:ENST00000398752:exon3:c.A307C:p.K103Q;ENSG00000152234:ENST00000282050:exon4:c.A307C:p.K103Q;ENSG00000152234:ENST00000590324:exon4:c.A157C:p.K53Q;ENSG00000152234:ENST00000593152:exon3:c.A157C:p.K53Q;ENSG00000152234:ENST00000589869:exon3:c.A157C:p.K53Q;ENSG00000152234:ENST00000592989:exon3:c.A157C:p.K53Q;ENSG00000152234:ENST00000590406:exon4:c.A307C:p.K103Q;	0.492615030773324	0.56
18	43671816	C	A	18	46091850	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon4:c.G141T:p.G47G;ATP5A1:NM_001257334:exon3:c.G141T:p.G47G;ATP5A1:NM_004046:exon3:c.G141T:p.G47G;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G141T:p.G47G;ENSG00000152234:ENST00000398752:exon3:c.G141T:p.G47G;ENSG00000152234:ENST00000282050:exon4:c.G141T:p.G47G;ENSG00000152234:ENST00000592364:exon3:c.G141T:p.G47G;ENSG00000152234:ENST00000590406:exon4:c.G141T:p.G47G;	2.45578577502013E-5	0.002
18	43671816	C	G	18	46091850	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon4:c.G141C:p.G47G;ATP5A1:NM_001257334:exon3:c.G141C:p.G47G;ATP5A1:NM_004046:exon3:c.G141C:p.G47G;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G141C:p.G47G;ENSG00000152234:ENST00000398752:exon3:c.G141C:p.G47G;ENSG00000152234:ENST00000282050:exon4:c.G141C:p.G47G;ENSG00000152234:ENST00000592364:exon3:c.G141C:p.G47G;ENSG00000152234:ENST00000590406:exon4:c.G141C:p.G47G;	3.05758115529622E-5	0.0
18	43671816	C	T	18	46091850	y	y	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon4:c.G141A:p.G47G;ATP5A1:NM_001257334:exon3:c.G141A:p.G47G;ATP5A1:NM_004046:exon3:c.G141A:p.G47G;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G141A:p.G47G;ENSG00000152234:ENST00000398752:exon3:c.G141A:p.G47G;ENSG00000152234:ENST00000282050:exon4:c.G141A:p.G47G;ENSG00000152234:ENST00000592364:exon3:c.G141A:p.G47G;ENSG00000152234:ENST00000590406:exon4:c.G141A:p.G47G;	9.57871119903483E-5	0.028
18	43671817	C	A	18	46091851	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon4:c.G140T:p.G47V;ATP5A1:NM_001257334:exon3:c.G140T:p.G47V;ATP5A1:NM_004046:exon3:c.G140T:p.G47V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G140T:p.G47V;ENSG00000152234:ENST00000398752:exon3:c.G140T:p.G47V;ENSG00000152234:ENST00000282050:exon4:c.G140T:p.G47V;ENSG00000152234:ENST00000592364:exon3:c.G140T:p.G47V;ENSG00000152234:ENST00000590406:exon4:c.G140T:p.G47V;	0.993478084448486	0.926
18	43671817	C	G	18	46091851	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon4:c.G140C:p.G47A;ATP5A1:NM_001257334:exon3:c.G140C:p.G47A;ATP5A1:NM_004046:exon3:c.G140C:p.G47A;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G140C:p.G47A;ENSG00000152234:ENST00000398752:exon3:c.G140C:p.G47A;ENSG00000152234:ENST00000282050:exon4:c.G140C:p.G47A;ENSG00000152234:ENST00000592364:exon3:c.G140C:p.G47A;ENSG00000152234:ENST00000590406:exon4:c.G140C:p.G47A;	0.753129290505704	0.5
18	43671817	C	T	18	46091851	y	y	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon4:c.G140A:p.G47E;ATP5A1:NM_001257334:exon3:c.G140A:p.G47E;ATP5A1:NM_004046:exon3:c.G140A:p.G47E;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon3:c.G140A:p.G47E;ENSG00000152234:ENST00000398752:exon3:c.G140A:p.G47E;ENSG00000152234:ENST00000282050:exon4:c.G140A:p.G47E;ENSG00000152234:ENST00000592364:exon3:c.G140A:p.G47E;ENSG00000152234:ENST00000590406:exon4:c.G140A:p.G47E;	0.986867775376949	0.766
18	43671818	C	A	18	46091852	y	y	splicing	ATP5A1(NM_001257334:exon4:c.140-1G>T;NM_004046:exon4:c.140-1G>T;NM_001001937:exon5:c.140-1G>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.140-1G>T;ENST00000398752:exon4:c.140-1G>T;ENST00000586592:exon4:c.476-1G>T;ENST00000590665:exon4:c.140-1G>T;ENST00000590156:exon4:c.213-1G>T;ENST00000592364:exon4:c.140-1G>T;ENST00000590406:exon5:c.140-1G>T;ENST00000591981:exon4:c.156-1G>T;ENST00000585650:exon5:c.301-1G>T)	.	.	0.999938422912956	0.962
18	43671818	C	G	18	46091852	y	y	splicing	ATP5A1(NM_001257334:exon4:c.140-1G>C;NM_004046:exon4:c.140-1G>C;NM_001001937:exon5:c.140-1G>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.140-1G>C;ENST00000398752:exon4:c.140-1G>C;ENST00000586592:exon4:c.476-1G>C;ENST00000590665:exon4:c.140-1G>C;ENST00000590156:exon4:c.213-1G>C;ENST00000592364:exon4:c.140-1G>C;ENST00000590406:exon5:c.140-1G>C;ENST00000591981:exon4:c.156-1G>C;ENST00000585650:exon5:c.301-1G>C)	.	.	0.999938990645747	0.964
18	43671818	C	T	18	46091852	y	y	splicing	ATP5A1(NM_001257334:exon4:c.140-1G>A;NM_004046:exon4:c.140-1G>A;NM_001001937:exon5:c.140-1G>A)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.140-1G>A;ENST00000398752:exon4:c.140-1G>A;ENST00000586592:exon4:c.476-1G>A;ENST00000590665:exon4:c.140-1G>A;ENST00000590156:exon4:c.213-1G>A;ENST00000592364:exon4:c.140-1G>A;ENST00000590406:exon5:c.140-1G>A;ENST00000591981:exon4:c.156-1G>A;ENST00000585650:exon5:c.301-1G>A)	.	.	0.999938422912956	0.964
18	43671819	T	A	18	46091853	y	y	splicing	ATP5A1(NM_001257334:exon4:c.140-2A>T;NM_004046:exon4:c.140-2A>T;NM_001001937:exon5:c.140-2A>T)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.140-2A>T;ENST00000398752:exon4:c.140-2A>T;ENST00000586592:exon4:c.476-2A>T;ENST00000590665:exon4:c.140-2A>T;ENST00000590156:exon4:c.213-2A>T;ENST00000592364:exon4:c.140-2A>T;ENST00000590406:exon5:c.140-2A>T;ENST00000591981:exon4:c.156-2A>T;ENST00000585650:exon5:c.301-2A>T)	.	.	0.999893588078984	0.858
18	43671819	T	C	18	46091853	y	y	splicing	ATP5A1(NM_001257334:exon4:c.140-2A>G;NM_004046:exon4:c.140-2A>G;NM_001001937:exon5:c.140-2A>G)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.140-2A>G;ENST00000398752:exon4:c.140-2A>G;ENST00000586592:exon4:c.476-2A>G;ENST00000590665:exon4:c.140-2A>G;ENST00000590156:exon4:c.213-2A>G;ENST00000592364:exon4:c.140-2A>G;ENST00000590406:exon5:c.140-2A>G;ENST00000591981:exon4:c.156-2A>G;ENST00000585650:exon5:c.301-2A>G)	.	.	0.999871793741964	0.84
18	43671819	T	G	18	46091853	y	y	splicing	ATP5A1(NM_001257334:exon4:c.140-2A>C;NM_004046:exon4:c.140-2A>C;NM_001001937:exon5:c.140-2A>C)	.	.	splicing	ENSG00000152234(ENST00000282050:exon5:c.140-2A>C;ENST00000398752:exon4:c.140-2A>C;ENST00000586592:exon4:c.476-2A>C;ENST00000590665:exon4:c.140-2A>C;ENST00000590156:exon4:c.213-2A>C;ENST00000592364:exon4:c.140-2A>C;ENST00000590406:exon5:c.140-2A>C;ENST00000591981:exon4:c.156-2A>C;ENST00000585650:exon5:c.301-2A>C)	.	.	0.999871793741964	0.84
18	43671820	A	C	18	46091854	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.998598495252697	0.692
18	43671820	A	G	18	46091854	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.0101794053689E-4	0.104
18	43671820	A	T	18	46091854	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.140360302583477	0.422
18	43671821	T	A	18	46091855	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.85880735666552E-4	0.012
18	43671821	T	C	18	46091855	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00110840177401388	0.042
18	43671821	T	G	18	46091855	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.98461777117779E-5	0.002
18	43671822	G	A	18	46091856	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.99717893472931E-5	0.0
18	43671822	G	C	18	46091856	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0075729133853943	0.13
18	43671822	G	T	18	46091856	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00184664677550307	0.064
18	43671823	G	A	18	46091857	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.18999678101722E-4	0.02
18	43671823	G	C	18	46091857	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00392210983393509	0.304
18	43671823	G	T	18	46091857	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00359373221685176	0.31
18	43671824	A	C	18	46091858	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.100583615803021	0.192
18	43671824	A	G	18	46091858	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.46252932510823E-4	0.042
18	43671824	A	T	18	46091858	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.167362994410558	0.248
18	43671825	A	C	18	46091859	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.72515802250836E-4	0.034
18	43671825	A	G	18	46091859	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.51434155449802E-5	0.002
18	43671825	A	T	18	46091859	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00238030845544992	0.048
18	43671826	G	A	18	46091860	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.65349204624827E-4	0.014
18	43671826	G	C	18	46091860	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00131719930492469	0.064
18	43671826	G	T	18	46091860	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00581532921428992	0.158
18	43671827	A	C	18	46091861	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.922281466448074	0.738
18	43671827	A	G	18	46091861	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00531877439395619	0.088
18	43671827	A	T	18	46091861	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.723988431422545	0.778
18	43671828	C	A	18	46091862	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.13693838873618E-5	0.0
18	43671828	C	G	18	46091862	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.7237136075588E-5	0.002
18	43671828	C	T	18	46091862	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.14155403470823E-4	0.028
18	43671829	A	C	18	46091863	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0994458675306525	0.338
18	43671829	A	G	18	46091863	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00180345739405639	0.024
18	43671829	A	T	18	46091863	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.999845208325084	0.986
18	43673138	A	C	18	46093172	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673138	A	G	18	46093172	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673138	A	T	18	46093172	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673139	A	C	18	46093173	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.02
18	43673139	A	G	18	46093173	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673139	A	T	18	46093173	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673140	A	C	18	46093174	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.37582853480714E-5	0.0
18	43673140	A	G	18	46093174	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.37582853480714E-5	0.0
18	43673140	A	T	18	46093174	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.37582853480714E-5	0.0
18	43673141	T	A	18	46093175	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.37582853480714E-5	0.0
18	43673141	T	C	18	46093175	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.37582853480714E-5	0.0
18	43673141	T	G	18	46093175	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.37582853480714E-5	0.0
18	43673142	C	A	18	46093176	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.87188593601868E-5	0.014
18	43673142	C	G	18	46093176	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.87188593601868E-5	0.014
18	43673142	C	T	18	46093176	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.87188593601868E-5	0.014
18	43673143	A	C	18	46093177	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.32651317629065E-5	0.01
18	43673143	A	G	18	46093177	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.32651317629065E-5	0.01
18	43673143	A	T	18	46093177	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.32651317629065E-5	0.01
18	43673144	A	C	18	46093178	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.300+2T>G)	.	.	3.32651317629065E-5	0.01
18	43673144	A	G	18	46093178	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.300+2T>C)	.	.	3.32651317629065E-5	0.01
18	43673144	A	T	18	46093178	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.300+2T>A)	.	.	3.32651317629065E-5	0.01
18	43673145	C	A	18	46093179	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.300+1G>T)	.	.	6.19654958573966E-5	0.014
18	43673145	C	G	18	46093179	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.300+1G>C)	.	.	6.19654958573966E-5	0.018
18	43673145	C	T	18	46093179	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.300+1G>A)	.	.	9.57123356397867E-5	0.016
18	43673146	T	A	18	46093180	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	3.32651317629065E-5	0.01
18	43673146	T	C	18	46093180	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	3.32651317629065E-5	0.01
18	43673146	T	G	18	46093180	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	3.32651317629065E-5	0.01
18	43673147	G	A	18	46093181	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	6.09337574150394E-6	0.004
18	43673147	G	C	18	46093181	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	6.09337574150394E-6	0.0
18	43673147	G	T	18	46093181	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	6.09337574150394E-6	0.002
18	43673148	T	A	18	46093182	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	3.07620641825897E-5	0.0
18	43673148	T	C	18	46093182	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	1.99153316237132E-5	0.0
18	43673148	T	G	18	46093182	n	y	intronic	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	1.99153316237132E-5	0.0
18	43673327	C	A	18	46093361	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon3:c.G119T:p.R40I;	4.92559286361592E-5	0.002
18	43673327	C	G	18	46093361	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon3:c.G119C:p.R40T;	4.92559286361592E-5	0.002
18	43673327	C	T	18	46093361	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon3:c.G119A:p.R40K;	4.92559286361592E-5	0.002
18	43673328	T	A	18	46093362	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000585650:exon3:c.A118T:p.R40X;	1.89552819446206E-5	0.0
18	43673328	T	C	18	46093362	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon3:c.A118G:p.R40G;	1.89552819446206E-5	0.0
18	43673328	T	G	18	46093362	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000585650:exon3:c.A118C:p.R40R;	1.89552819446206E-5	0.0
18	43673329	C	A	18	46093363	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.118-1G>T)	.	.	4.92559286361592E-5	0.002
18	43673329	C	G	18	46093363	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.118-1G>C)	.	.	4.92559286361592E-5	0.002
18	43673329	C	T	18	46093363	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.118-1G>A)	.	.	4.92559286361592E-5	0.002
18	43673330	T	A	18	46093364	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.118-2A>T)	.	.	1.89552819446206E-5	0.0
18	43673330	T	C	18	46093364	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.118-2A>G)	.	.	1.89552819446206E-5	0.0
18	43673330	T	G	18	46093364	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon4:c.118-2A>C)	.	.	1.89552819446206E-5	0.0
18	43673331	A	C	18	46093365	n	y	intronic	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673331	A	G	18	46093365	n	y	intronic	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673331	A	T	18	46093365	n	y	intronic	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673332	C	A	18	46093366	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234	.	.	4.92559286361592E-5	0.002
18	43673332	C	G	18	46093366	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234	.	.	4.92559286361592E-5	0.002
18	43673332	C	T	18	46093366	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234	.	.	4.92559286361592E-5	0.002
18	43673333	T	A	18	46093367	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673333	T	C	18	46093367	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673333	T	G	18	46093367	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673334	A	C	18	46093368	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.42005417025298E-5	0.0
18	43673334	A	G	18	46093368	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.42005417025298E-5	0.0
18	43673334	A	T	18	46093368	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.42005417025298E-5	0.0
18	43673335	A	C	18	46093369	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673335	A	G	18	46093369	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673335	A	T	18	46093369	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673336	G	A	18	46093370	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.45277156108894E-5	0.0
18	43673336	G	C	18	46093370	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.45277156108894E-5	0.0
18	43673336	G	T	18	46093370	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.45277156108894E-5	0.0
18	43673337	G	A	18	46093371	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.45277156108894E-5	0.0
18	43673337	G	C	18	46093371	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.45277156108894E-5	0.0
18	43673337	G	T	18	46093371	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.45277156108894E-5	0.0
18	43673338	A	C	18	46093372	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673338	A	G	18	46093372	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673338	A	T	18	46093372	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673339	A	C	18	46093373	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673339	A	G	18	46093373	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673339	A	T	18	46093373	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673340	A	C	18	46093374	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673340	A	G	18	46093374	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673340	A	T	18	46093374	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673341	A	C	18	46093375	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.45277156108894E-5	0.0
18	43673341	A	G	18	46093375	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.45277156108894E-5	0.0
18	43673341	A	T	18	46093375	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.78864525412067E-5	0.004
18	43673342	A	C	18	46093376	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673342	A	G	18	46093376	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673342	A	T	18	46093376	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673343	A	C	18	46093377	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673343	A	G	18	46093377	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43673343	A	T	18	46093377	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.89552819446206E-5	0.0
18	43674938	C	A	18	46094972	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.56524208923312E-4	0.0
18	43674938	C	G	18	46094972	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.56524208923312E-4	0.0
18	43674938	C	T	18	46094972	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.56524208923312E-4	0.0
18	43674939	A	C	18	46094973	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.21952753539583E-4	0.018
18	43674939	A	G	18	46094973	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.21952753539583E-4	0.018
18	43674939	A	T	18	46094973	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.21952753539583E-4	0.06
18	43674940	A	C	18	46094974	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.56524208923312E-4	0.002
18	43674940	A	G	18	46094974	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.56524208923312E-4	0.0
18	43674940	A	T	18	46094974	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.56524208923312E-4	0.0
18	43674941	C	A	18	46094975	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.89925739660516E-5	0.008
18	43674941	C	G	18	46094975	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.89925739660516E-5	0.006
18	43674941	C	T	18	46094975	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.89925739660516E-5	0.106
18	43674942	T	A	18	46094976	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.76375603973572E-5	0.002
18	43674942	T	C	18	46094976	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.2541002007331E-5	0.002
18	43674942	T	G	18	46094976	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.2541002007331E-5	0.002
18	43674943	C	A	18	46094977	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.24975915077222E-5	0.0
18	43674943	C	G	18	46094977	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.24975915077222E-5	0.0
18	43674943	C	T	18	46094977	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.33815804894828E-5	0.0
18	43674944	A	C	18	46094978	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000590156:exon3:c.212+2T>G)	.	.	6.83891202920338E-5	0.018
18	43674944	A	G	18	46094978	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000590156:exon3:c.212+2T>C)	.	.	9.14505838604605E-5	0.03
18	43674944	A	T	18	46094978	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000590156:exon3:c.212+2T>A)	.	.	6.83891202920338E-5	0.008
18	43674945	C	A	18	46094979	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000590156:exon3:c.212+1G>T)	.	.	5.65604537716464E-5	0.006
18	43674945	C	G	18	46094979	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000590156:exon3:c.212+1G>C)	.	.	3.93527966761365E-5	0.006
18	43674945	C	T	18	46094979	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000590156:exon3:c.212+1G>A)	.	.	1.05605949885822E-4	0.006
18	43674946	C	A	18	46094980	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	5.15941453541388E-5	0.002
18	43674946	C	G	18	46094980	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	5.15941453541388E-5	0.002
18	43674946	C	T	18	46094980	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	5.15941453541388E-5	0.0
18	43674947	A	C	18	46094981	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	2.93750929994865E-5	0.006
18	43674947	A	G	18	46094981	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	2.93750929994865E-5	0.006
18	43674947	A	T	18	46094981	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	2.93750929994865E-5	0.006
18	43674948	C	A	18	46094982	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	1.58624146151243E-5	0.0
18	43674948	C	G	18	46094982	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	1.58624146151243E-5	0.0
18	43674948	C	T	18	46094982	y	y	UTR5	ATP5A1	.	.	UTR3	ENSG00000152234	.	.	1.58624146151243E-5	0.0
18	43675011	T	A	18	46095045	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.A147T:p.L49F;	6.80639203006162E-5	0.002
18	43675011	T	C	18	46095045	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.A147G:p.L49L;	1.56896036650048E-4	0.0
18	43675011	T	G	18	46095045	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.A147C:p.L49F;	9.06275691348611E-5	0.01
18	43675012	A	C	18	46095046	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590156:exon2:c.T146G:p.L49X;	1.25140922822178E-4	0.0
18	43675012	A	G	18	46095046	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.T146C:p.L49S;	8.0159022678975E-5	0.0
18	43675012	A	T	18	46095046	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590156:exon2:c.T146A:p.L49X;	8.33979073727563E-5	0.0
18	43675013	A	C	18	46095047	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.T145G:p.L49V;	0.0419752281765139	0.26
18	43675013	A	G	18	46095047	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.T145C:p.L49L;	0.391791864725449	0.384
18	43675013	A	T	18	46095047	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.T145A:p.L49I;	0.369389502898868	0.372
18	43675014	C	A	18	46095048	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.G144T:p.K48N;	0.999817971379265	0.924
18	43675014	C	G	18	46095048	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.G144C:p.K48N;	0.999799457730301	0.866
18	43675014	C	T	18	46095048	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.G144A:p.K48K;	0.999899469614796	0.95
18	43675015	T	A	18	46095049	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.A143T:p.K48M;	0.330038054623966	0.466
18	43675015	T	C	18	46095049	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.A143G:p.K48R;	0.360119368401776	0.446
18	43675015	T	G	18	46095049	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.A143C:p.K48T;	0.327231134961295	0.356
18	43675016	T	A	18	46095050	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	stopgain SNV	ENSG00000152234:ENST00000590156:exon2:c.A142T:p.K48X;	0.765471137164565	0.4
18	43675016	T	C	18	46095050	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.A142G:p.K48E;	3.74834078688218E-4	0.002
18	43675016	T	G	18	46095050	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.A142C:p.K48Q;	0.815090237354249	0.46
18	43675017	A	C	18	46095051	y	n	splicing	ATP5A1(NM_001257334:exon3:c.139+2T>G;NM_004046:exon3:c.139+2T>G;NM_001001937:exon4:c.139+2T>G)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.139+2T>G;ENST00000398752:exon3:c.139+2T>G;ENST00000586592:exon3:c.475+2T>G;ENST00000590665:exon3:c.139+2T>G;ENST00000592364:exon3:c.139+2T>G;ENST00000589252:exon3:c.139+2T>G;ENST00000590406:exon4:c.139+2T>G;ENST00000591981:exon3:c.155+2T>G;ENST00000585650:exon3:c.117+2T>G)	synonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.T141G:p.G47G;	0.99994568797423	0.926
18	43675017	A	G	18	46095051	y	n	splicing	ATP5A1(NM_001257334:exon3:c.139+2T>C;NM_004046:exon3:c.139+2T>C;NM_001001937:exon4:c.139+2T>C)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.139+2T>C;ENST00000398752:exon3:c.139+2T>C;ENST00000586592:exon3:c.475+2T>C;ENST00000590665:exon3:c.139+2T>C;ENST00000592364:exon3:c.139+2T>C;ENST00000589252:exon3:c.139+2T>C;ENST00000590406:exon4:c.139+2T>C;ENST00000591981:exon3:c.155+2T>C;ENST00000585650:exon3:c.117+2T>C)	synonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.T141C:p.G47G;	0.987955382770663	0.642
18	43675017	A	T	18	46095051	y	n	splicing	ATP5A1(NM_001257334:exon3:c.139+2T>A;NM_004046:exon3:c.139+2T>A;NM_001001937:exon4:c.139+2T>A)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.139+2T>A;ENST00000398752:exon3:c.139+2T>A;ENST00000586592:exon3:c.475+2T>A;ENST00000590665:exon3:c.139+2T>A;ENST00000592364:exon3:c.139+2T>A;ENST00000589252:exon3:c.139+2T>A;ENST00000590406:exon4:c.139+2T>A;ENST00000591981:exon3:c.155+2T>A;ENST00000585650:exon3:c.117+2T>A)	synonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.T141A:p.G47G;	0.999978952611685	0.924
18	43675018	C	A	18	46095052	y	n	splicing	ATP5A1(NM_001257334:exon3:c.139+1G>T;NM_004046:exon3:c.139+1G>T;NM_001001937:exon4:c.139+1G>T)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.139+1G>T;ENST00000398752:exon3:c.139+1G>T;ENST00000586592:exon3:c.475+1G>T;ENST00000590665:exon3:c.139+1G>T;ENST00000592364:exon3:c.139+1G>T;ENST00000589252:exon3:c.139+1G>T;ENST00000590406:exon4:c.139+1G>T;ENST00000591981:exon3:c.155+1G>T;ENST00000585650:exon3:c.117+1G>T)	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.G140T:p.G47V;	0.999986675681007	0.94
18	43675018	C	G	18	46095052	y	n	splicing	ATP5A1(NM_001257334:exon3:c.139+1G>C;NM_004046:exon3:c.139+1G>C;NM_001001937:exon4:c.139+1G>C)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.139+1G>C;ENST00000398752:exon3:c.139+1G>C;ENST00000586592:exon3:c.475+1G>C;ENST00000590665:exon3:c.139+1G>C;ENST00000592364:exon3:c.139+1G>C;ENST00000589252:exon3:c.139+1G>C;ENST00000590406:exon4:c.139+1G>C;ENST00000591981:exon3:c.155+1G>C;ENST00000585650:exon3:c.117+1G>C)	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.G140C:p.G47A;	0.999976137096505	0.942
18	43675018	C	T	18	46095052	y	n	splicing	ATP5A1(NM_001257334:exon3:c.139+1G>A;NM_004046:exon3:c.139+1G>A;NM_001001937:exon4:c.139+1G>A)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.139+1G>A;ENST00000398752:exon3:c.139+1G>A;ENST00000586592:exon3:c.475+1G>A;ENST00000590665:exon3:c.139+1G>A;ENST00000592364:exon3:c.139+1G>A;ENST00000589252:exon3:c.139+1G>A;ENST00000590406:exon4:c.139+1G>A;ENST00000591981:exon3:c.155+1G>A;ENST00000585650:exon3:c.117+1G>A)	nonsynonymous SNV	ENSG00000152234:ENST00000590156:exon2:c.G140A:p.G47D;	0.999986675681007	0.94
18	43675019	C	A	18	46095053	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.G139T:p.G47W;ATP5A1:NM_001257334:exon2:c.G139T:p.G47W;ATP5A1:NM_004046:exon2:c.G139T:p.G47W;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.G139T:p.G47W;ENSG00000152234:ENST00000398752:exon2:c.G139T:p.G47W;ENSG00000152234:ENST00000282050:exon3:c.G139T:p.G47W;ENSG00000152234:ENST00000592364:exon2:c.G139T:p.G47W;ENSG00000152234:ENST00000590156:exon2:c.G139T:p.G47C;ENSG00000152234:ENST00000589252:exon2:c.G139T:p.A47S;ENSG00000152234:ENST00000590406:exon3:c.G139T:p.G47W;	0.999849159306614	0.994
18	43675019	C	G	18	46095053	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.G139C:p.G47R;ATP5A1:NM_001257334:exon2:c.G139C:p.G47R;ATP5A1:NM_004046:exon2:c.G139C:p.G47R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.G139C:p.G47R;ENSG00000152234:ENST00000398752:exon2:c.G139C:p.G47R;ENSG00000152234:ENST00000282050:exon3:c.G139C:p.G47R;ENSG00000152234:ENST00000592364:exon2:c.G139C:p.G47R;ENSG00000152234:ENST00000590156:exon2:c.G139C:p.G47R;ENSG00000152234:ENST00000589252:exon2:c.G139C:p.A47P;ENSG00000152234:ENST00000590406:exon3:c.G139C:p.G47R;	0.99951223822502	0.972
18	43675019	C	T	18	46095053	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.G139A:p.G47R;ATP5A1:NM_001257334:exon2:c.G139A:p.G47R;ATP5A1:NM_004046:exon2:c.G139A:p.G47R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.G139A:p.G47R;ENSG00000152234:ENST00000398752:exon2:c.G139A:p.G47R;ENSG00000152234:ENST00000282050:exon3:c.G139A:p.G47R;ENSG00000152234:ENST00000592364:exon2:c.G139A:p.G47R;ENSG00000152234:ENST00000590156:exon2:c.G139A:p.G47S;ENSG00000152234:ENST00000589252:exon2:c.G139A:p.A47T;ENSG00000152234:ENST00000590406:exon3:c.G139A:p.G47R;	0.999553521897599	0.942
18	43675020	A	C	18	46095054	y	n	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon3:c.T138G:p.T46T;ATP5A1:NM_001257334:exon2:c.T138G:p.T46T;ATP5A1:NM_004046:exon2:c.T138G:p.T46T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon2:c.T116G:p.L39R;	1.57954728174427E-4	0.028
18	43675020	A	G	18	46095054	y	n	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon3:c.T138C:p.T46T;ATP5A1:NM_001257334:exon2:c.T138C:p.T46T;ATP5A1:NM_004046:exon2:c.T138C:p.T46T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon2:c.T116C:p.L39P;	1.59435735735694E-4	0.004
18	43675020	A	T	18	46095054	y	n	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon3:c.T138A:p.T46T;ATP5A1:NM_001257334:exon2:c.T138A:p.T46T;ATP5A1:NM_004046:exon2:c.T138A:p.T46T;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon2:c.T116A:p.L39Q;	1.23906590265474E-4	0.118
18	43675021	G	A	18	46095055	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.C137T:p.T46I;ATP5A1:NM_001257334:exon2:c.C137T:p.T46I;ATP5A1:NM_004046:exon2:c.C137T:p.T46I;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.C137T:p.T46I;ENSG00000152234:ENST00000398752:exon2:c.C137T:p.T46I;ENSG00000152234:ENST00000282050:exon3:c.C137T:p.T46I;ENSG00000152234:ENST00000592364:exon2:c.C137T:p.T46I;ENSG00000152234:ENST00000590156:exon2:c.C137T:p.T46I;ENSG00000152234:ENST00000589252:exon2:c.C137T:p.T46I;ENSG00000152234:ENST00000590406:exon3:c.C137T:p.T46I;	0.00255374411544984	0.106
18	43675021	G	C	18	46095055	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.C137G:p.T46S;ATP5A1:NM_001257334:exon2:c.C137G:p.T46S;ATP5A1:NM_004046:exon2:c.C137G:p.T46S;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.C137G:p.T46S;ENSG00000152234:ENST00000398752:exon2:c.C137G:p.T46S;ENSG00000152234:ENST00000282050:exon3:c.C137G:p.T46S;ENSG00000152234:ENST00000592364:exon2:c.C137G:p.T46S;ENSG00000152234:ENST00000590156:exon2:c.C137G:p.T46S;ENSG00000152234:ENST00000589252:exon2:c.C137G:p.T46S;ENSG00000152234:ENST00000590406:exon3:c.C137G:p.T46S;ENSG00000152234:ENST00000585650:exon2:c.C115G:p.L39V;	5.93357017315167E-4	0.014
18	43675021	G	T	18	46095055	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.C137A:p.T46N;ATP5A1:NM_001257334:exon2:c.C137A:p.T46N;ATP5A1:NM_004046:exon2:c.C137A:p.T46N;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.C137A:p.T46N;ENSG00000152234:ENST00000398752:exon2:c.C137A:p.T46N;ENSG00000152234:ENST00000282050:exon3:c.C137A:p.T46N;ENSG00000152234:ENST00000592364:exon2:c.C137A:p.T46N;ENSG00000152234:ENST00000590156:exon2:c.C137A:p.T46N;ENSG00000152234:ENST00000589252:exon2:c.C137A:p.T46N;ENSG00000152234:ENST00000590406:exon3:c.C137A:p.T46N;ENSG00000152234:ENST00000585650:exon2:c.C115A:p.L39M;	1.31803933600849E-4	0.032
18	43675096	A	C	18	46095130	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.T62G:p.V21G;ATP5A1:NM_001257334:exon2:c.T62G:p.V21G;ATP5A1:NM_004046:exon2:c.T62G:p.V21G;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.T62G:p.V21G;ENSG00000152234:ENST00000398752:exon2:c.T62G:p.V21G;ENSG00000152234:ENST00000282050:exon3:c.T62G:p.V21G;ENSG00000152234:ENST00000592364:exon2:c.T62G:p.V21G;ENSG00000152234:ENST00000590156:exon2:c.T62G:p.V21G;ENSG00000152234:ENST00000589252:exon2:c.T62G:p.V21G;ENSG00000152234:ENST00000590406:exon3:c.T62G:p.V21G;ENSG00000152234:ENST00000585650:exon2:c.T40G:p.S14A;	0.784833979708592	0.468
18	43675096	A	G	18	46095130	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.T62C:p.V21A;ATP5A1:NM_001257334:exon2:c.T62C:p.V21A;ATP5A1:NM_004046:exon2:c.T62C:p.V21A;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.T62C:p.V21A;ENSG00000152234:ENST00000398752:exon2:c.T62C:p.V21A;ENSG00000152234:ENST00000282050:exon3:c.T62C:p.V21A;ENSG00000152234:ENST00000592364:exon2:c.T62C:p.V21A;ENSG00000152234:ENST00000590156:exon2:c.T62C:p.V21A;ENSG00000152234:ENST00000589252:exon2:c.T62C:p.V21A;ENSG00000152234:ENST00000590406:exon3:c.T62C:p.V21A;ENSG00000152234:ENST00000585650:exon2:c.T40C:p.S14P;	0.533442416528843	0.346
18	43675096	A	T	18	46095130	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.T62A:p.V21D;ATP5A1:NM_001257334:exon2:c.T62A:p.V21D;ATP5A1:NM_004046:exon2:c.T62A:p.V21D;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.T62A:p.V21D;ENSG00000152234:ENST00000398752:exon2:c.T62A:p.V21D;ENSG00000152234:ENST00000282050:exon3:c.T62A:p.V21D;ENSG00000152234:ENST00000592364:exon2:c.T62A:p.V21D;ENSG00000152234:ENST00000590156:exon2:c.T62A:p.V21D;ENSG00000152234:ENST00000589252:exon2:c.T62A:p.V21D;ENSG00000152234:ENST00000590406:exon3:c.T62A:p.V21D;ENSG00000152234:ENST00000585650:exon2:c.T40A:p.S14T;	0.736653043300338	0.428
18	43675097	C	A	18	46095131	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.G61T:p.V21F;ATP5A1:NM_001257334:exon2:c.G61T:p.V21F;ATP5A1:NM_004046:exon2:c.G61T:p.V21F;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.G61T:p.V21F;ENSG00000152234:ENST00000398752:exon2:c.G61T:p.V21F;ENSG00000152234:ENST00000282050:exon3:c.G61T:p.V21F;ENSG00000152234:ENST00000591981:exon2:c.G77T:p.G26V;ENSG00000152234:ENST00000592364:exon2:c.G61T:p.V21F;ENSG00000152234:ENST00000590156:exon2:c.G61T:p.V21F;ENSG00000152234:ENST00000589252:exon2:c.G61T:p.V21F;ENSG00000152234:ENST00000590406:exon3:c.G61T:p.V21F;ENSG00000152234:ENST00000585650:exon2:c.G39T:p.R13S;	0.999945004312105	0.99
18	43675097	C	G	18	46095131	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.G61C:p.V21L;ATP5A1:NM_001257334:exon2:c.G61C:p.V21L;ATP5A1:NM_004046:exon2:c.G61C:p.V21L;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.G61C:p.V21L;ENSG00000152234:ENST00000398752:exon2:c.G61C:p.V21L;ENSG00000152234:ENST00000282050:exon3:c.G61C:p.V21L;ENSG00000152234:ENST00000591981:exon2:c.G77C:p.G26A;ENSG00000152234:ENST00000592364:exon2:c.G61C:p.V21L;ENSG00000152234:ENST00000590156:exon2:c.G61C:p.V21L;ENSG00000152234:ENST00000589252:exon2:c.G61C:p.V21L;ENSG00000152234:ENST00000590406:exon3:c.G61C:p.V21L;ENSG00000152234:ENST00000585650:exon2:c.G39C:p.R13S;	0.999772841469096	0.936
18	43675097	C	T	18	46095131	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon3:c.G61A:p.V21I;ATP5A1:NM_001257334:exon2:c.G61A:p.V21I;ATP5A1:NM_004046:exon2:c.G61A:p.V21I;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon2:c.G61A:p.V21I;ENSG00000152234:ENST00000398752:exon2:c.G61A:p.V21I;ENSG00000152234:ENST00000282050:exon3:c.G61A:p.V21I;ENSG00000152234:ENST00000591981:exon2:c.G77A:p.G26D;ENSG00000152234:ENST00000592364:exon2:c.G61A:p.V21I;ENSG00000152234:ENST00000590156:exon2:c.G61A:p.V21I;ENSG00000152234:ENST00000589252:exon2:c.G61A:p.V21I;ENSG00000152234:ENST00000590406:exon3:c.G61A:p.V21I;	0.999808787934783	0.9
18	43675098	C	A	18	46095132	y	n	splicing	ATP5A1(NM_001257334:exon3:c.61-1G>T;NM_004046:exon3:c.61-1G>T;NM_001001937:exon4:c.61-1G>T)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.61-1G>T;ENST00000398752:exon3:c.61-1G>T;ENST00000586592:exon3:c.397-1G>T;ENST00000590665:exon3:c.61-1G>T;ENST00000590156:exon3:c.61-1G>T;ENST00000592364:exon3:c.61-1G>T;ENST00000589252:exon3:c.61-1G>T;ENST00000590406:exon4:c.61-1G>T;ENST00000585650:exon3:c.39-1G>T)	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.G76T:p.G26C;	0.999989125585301	0.944
18	43675098	C	G	18	46095132	y	n	splicing	ATP5A1(NM_001257334:exon3:c.61-1G>C;NM_004046:exon3:c.61-1G>C;NM_001001937:exon4:c.61-1G>C)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.61-1G>C;ENST00000398752:exon3:c.61-1G>C;ENST00000586592:exon3:c.397-1G>C;ENST00000590665:exon3:c.61-1G>C;ENST00000590156:exon3:c.61-1G>C;ENST00000592364:exon3:c.61-1G>C;ENST00000589252:exon3:c.61-1G>C;ENST00000590406:exon4:c.61-1G>C;ENST00000585650:exon3:c.39-1G>C)	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.G76C:p.G26R;	0.999989125585301	0.944
18	43675098	C	T	18	46095132	y	n	splicing	ATP5A1(NM_001257334:exon3:c.61-1G>A;NM_004046:exon3:c.61-1G>A;NM_001001937:exon4:c.61-1G>A)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.61-1G>A;ENST00000398752:exon3:c.61-1G>A;ENST00000586592:exon3:c.397-1G>A;ENST00000590665:exon3:c.61-1G>A;ENST00000590156:exon3:c.61-1G>A;ENST00000592364:exon3:c.61-1G>A;ENST00000589252:exon3:c.61-1G>A;ENST00000590406:exon4:c.61-1G>A;ENST00000585650:exon3:c.39-1G>A)	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.G76A:p.G26S;	0.999989125585301	0.944
18	43675099	T	A	18	46095133	y	n	splicing	ATP5A1(NM_001257334:exon3:c.61-2A>T;NM_004046:exon3:c.61-2A>T;NM_001001937:exon4:c.61-2A>T)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.61-2A>T;ENST00000398752:exon3:c.61-2A>T;ENST00000586592:exon3:c.397-2A>T;ENST00000590665:exon3:c.61-2A>T;ENST00000590156:exon3:c.61-2A>T;ENST00000592364:exon3:c.61-2A>T;ENST00000589252:exon3:c.61-2A>T;ENST00000590406:exon4:c.61-2A>T;ENST00000585650:exon3:c.39-2A>T)	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A75T:p.L25L;	0.999986741007567	0.944
18	43675099	T	C	18	46095133	y	n	splicing	ATP5A1(NM_001257334:exon3:c.61-2A>G;NM_004046:exon3:c.61-2A>G;NM_001001937:exon4:c.61-2A>G)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.61-2A>G;ENST00000398752:exon3:c.61-2A>G;ENST00000586592:exon3:c.397-2A>G;ENST00000590665:exon3:c.61-2A>G;ENST00000590156:exon3:c.61-2A>G;ENST00000592364:exon3:c.61-2A>G;ENST00000589252:exon3:c.61-2A>G;ENST00000590406:exon4:c.61-2A>G;ENST00000585650:exon3:c.39-2A>G)	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A75G:p.L25L;	0.999986741007567	0.944
18	43675099	T	G	18	46095133	y	n	splicing	ATP5A1(NM_001257334:exon3:c.61-2A>C;NM_004046:exon3:c.61-2A>C;NM_001001937:exon4:c.61-2A>C)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon4:c.61-2A>C;ENST00000398752:exon3:c.61-2A>C;ENST00000586592:exon3:c.397-2A>C;ENST00000590665:exon3:c.61-2A>C;ENST00000590156:exon3:c.61-2A>C;ENST00000592364:exon3:c.61-2A>C;ENST00000589252:exon3:c.61-2A>C;ENST00000590406:exon4:c.61-2A>C;ENST00000585650:exon3:c.39-2A>C)	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A75C:p.L25L;	0.999986741007567	0.944
18	43675100	A	C	18	46095134	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T74G:p.L25R;	0.999416939129396	0.884
18	43675100	A	G	18	46095134	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T74C:p.L25P;	7.39037687984148E-4	0.04
18	43675100	A	T	18	46095134	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T74A:p.L25Q;	0.990802682160831	0.57
18	43675101	G	A	18	46095135	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C73T:p.L25L;	6.12249135910954E-4	0.02
18	43675101	G	C	18	46095135	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C73G:p.L25V;	0.999904961723908	0.99
18	43675101	G	T	18	46095135	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C73A:p.L25I;	2.54961781445115E-5	0.002
18	43675102	T	A	18	46095136	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A72T:p.A24A;	2.1406777502336E-4	0.088
18	43675102	T	C	18	46095136	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A72G:p.A24A;	8.41174445155698E-5	0.018
18	43675102	T	G	18	46095136	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A72C:p.A24A;	2.11013643616946E-4	0.09
18	43675103	G	A	18	46095137	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C71T:p.A24V;	6.48507105244214E-5	0.026
18	43675103	G	C	18	46095137	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C71G:p.A24G;	0.00746579533885429	0.346
18	43675103	G	T	18	46095137	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C71A:p.A24E;	0.0110273563277801	0.36
18	43675104	C	A	18	46095138	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.G70T:p.A24S;	1.86295121170522E-4	0.034
18	43675104	C	G	18	46095138	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.G70C:p.A24P;	2.64766622041767E-4	0.012
18	43675104	C	T	18	46095138	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.G70A:p.A24T;	2.11708128398383E-4	0.074
18	43675105	A	C	18	46095139	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T69G:p.F23L;	0.853184425767974	0.736
18	43675105	A	G	18	46095139	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T69C:p.F23F;	1.371011480707E-4	0.056
18	43675105	A	T	18	46095139	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T69A:p.F23L;	0.999952344394635	0.986
18	43675106	A	C	18	46095140	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T68G:p.F23C;	0.145272267707006	0.546
18	43675106	A	G	18	46095140	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T68C:p.F23S;	0.00391691635594261	0.128
18	43675106	A	T	18	46095140	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T68A:p.F23Y;	0.899978343100096	0.636
18	43675107	A	C	18	46095141	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T67G:p.F23V;	0.388134939043726	0.354
18	43675107	A	G	18	46095141	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T67C:p.F23L;	5.17696012122495E-4	0.058
18	43675107	A	T	18	46095141	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T67A:p.F23I;	0.586932966754995	0.412
18	43675108	A	C	18	46095142	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T66G:p.T22T;	0.205801086405751	0.474
18	43675108	A	G	18	46095142	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T66C:p.T22T;	1.51199933792464E-4	0.024
18	43675108	A	T	18	46095142	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.T66A:p.T22T;	0.172484847407713	0.43
18	43675109	G	A	18	46095143	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C65T:p.T22I;	1.80979598650494E-5	0.006
18	43675109	G	C	18	46095143	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C65G:p.T22S;	0.999851273945535	0.984
18	43675109	G	T	18	46095143	y	n	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.C65A:p.T22N;	3.19892673951647E-4	0.016
18	43675112	T	A	18	46095146	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A62T:p.N21I;	3.0292940749184E-4	0.008
18	43675112	T	C	18	46095146	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A62G:p.N21S;	3.59402553256731E-4	0.086
18	43675112	T	G	18	46095146	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A62C:p.N21T;	3.0292940749184E-4	0.0
18	43675113	T	A	18	46095147	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A61T:p.N21Y;	3.35101075421929E-5	0.002
18	43675113	T	C	18	46095147	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A61G:p.N21D;	9.57496358518833E-5	0.006
18	43675113	T	G	18	46095147	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000591981:exon2:c.A61C:p.N21H;	3.35101075421929E-5	0.002
18	43675114	C	A	18	46095148	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000591981:exon3:c.61-1G>T)	.	.	2.28645163373018E-4	0.022
18	43675114	C	G	18	46095148	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000591981:exon3:c.61-1G>C)	.	.	2.56876271295885E-4	0.088
18	43675114	C	T	18	46095148	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000591981:exon3:c.61-1G>A)	.	.	1.13670936449647E-4	0.086
18	43675115	T	A	18	46095149	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000591981:exon3:c.61-2A>T)	.	.	4.3669474334716E-5	0.038
18	43675115	T	C	18	46095149	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000591981:exon3:c.61-2A>G)	.	.	2.5292255504726E-4	0.024
18	43675115	T	G	18	46095149	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000591981:exon3:c.61-2A>C)	.	.	2.99881253190637E-5	0.0
18	43675116	T	A	18	46095150	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.39609609579285E-5	0.002
18	43675116	T	C	18	46095150	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.29750911599131E-5	0.002
18	43675116	T	G	18	46095150	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.37200857011026E-5	0.002
18	43675117	A	C	18	46095151	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.01610630020411E-5	0.268
18	43675117	A	G	18	46095151	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.02897720618985E-5	0.024
18	43675117	A	T	18	46095151	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.19621623538479E-5	0.01
18	43675118	A	C	18	46095152	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.81866790492208E-4	0.002
18	43675118	A	G	18	46095152	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.46175166467479E-5	0.0
18	43675118	A	T	18	46095152	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.65010061342094E-5	0.0
18	43675119	A	C	18	46095153	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.33815804894828E-5	0.0
18	43675119	A	G	18	46095153	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.33815804894828E-5	0.0
18	43675119	A	T	18	46095153	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.33815804894828E-5	0.0
18	43675120	A	C	18	46095154	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.51591174045998E-4	0.008
18	43675120	A	G	18	46095154	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.51591174045998E-4	0.012
18	43675120	A	T	18	46095154	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.50014361262222E-4	0.016
18	43675121	A	C	18	46095155	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.50637419222736E-5	0.036
18	43675121	A	G	18	46095155	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.50637419222736E-5	0.036
18	43675121	A	T	18	46095155	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.80764939879926E-5	0.036
18	43675122	T	A	18	46095156	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.80764939879926E-5	0.012
18	43675122	T	C	18	46095156	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.50637419222736E-5	0.012
18	43675122	T	G	18	46095156	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.50637419222736E-5	0.012
18	43675123	T	A	18	46095157	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.83708300348738E-5	0.002
18	43675123	T	C	18	46095157	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.83708300348738E-5	0.002
18	43675123	T	G	18	46095157	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.83708300348738E-5	0.002
18	43675124	T	A	18	46095158	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	9.29678296113073E-5	0.0
18	43675124	T	C	18	46095158	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.46844991217429E-5	0.0
18	43675124	T	G	18	46095158	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.46844991217429E-5	0.0
18	43675125	G	A	18	46095159	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.23990001900786E-4	0.002
18	43675125	G	C	18	46095159	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.23990001900786E-4	0.0
18	43675125	G	T	18	46095159	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.23990001900786E-4	0.0
18	43677794	A	C	18	46097828	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.73902940495253E-5	0.002
18	43677794	A	G	18	46097828	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	8.73902940495253E-5	0.002
18	43677794	A	T	18	46097828	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.17909087657908E-4	0.002
18	43677795	A	C	18	46097829	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.99982345019472E-5	0.0
18	43677795	A	G	18	46097829	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.99982345019472E-5	0.0
18	43677795	A	T	18	46097829	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.93003592639023E-5	0.016
18	43677796	C	A	18	46097830	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.69439264402225E-5	0.0
18	43677796	C	G	18	46097830	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.15941453541388E-5	0.0
18	43677796	C	T	18	46097830	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.69439264402225E-5	0.0
18	43677797	C	A	18	46097831	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.09069125317345E-4	0.01
18	43677797	C	G	18	46097831	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.07902708129146E-4	0.006
18	43677797	C	T	18	46097831	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.44101454748109E-4	0.006
18	43677798	T	A	18	46097832	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.19523722086209E-5	0.0
18	43677798	T	C	18	46097832	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.19523722086209E-5	0.0
18	43677798	T	G	18	46097832	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.19523722086209E-5	0.0
18	43677799	C	A	18	46097833	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.18924664478357E-5	0.0
18	43677799	C	G	18	46097833	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.18924664478357E-5	0.0
18	43677799	C	T	18	46097833	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	7.18924664478357E-5	0.0
18	43677800	A	C	18	46097834	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000586592:exon2:c.396+2T>G)	.	.	5.05808194911997E-5	0.0
18	43677800	A	G	18	46097834	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000586592:exon2:c.396+2T>C)	.	.	5.05808194911997E-5	0.0
18	43677800	A	T	18	46097834	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000586592:exon2:c.396+2T>A)	.	.	5.05808194911997E-5	0.002
18	43677801	C	A	18	46097835	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000586592:exon2:c.396+1G>T)	.	.	5.86590924201456E-5	0.0
18	43677801	C	G	18	46097835	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000586592:exon2:c.396+1G>C)	.	.	5.86590924201456E-5	0.002
18	43677801	C	T	18	46097835	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000586592:exon2:c.396+1G>A)	.	.	5.86590924201456E-5	0.004
18	43677802	C	A	18	46097836	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	4.14155790924668E-5	0.002
18	43677802	C	G	18	46097836	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	4.14155790924668E-5	0.002
18	43677802	C	T	18	46097836	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	4.14155790924668E-5	0.002
18	43677803	G	A	18	46097837	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	6.09332237519757E-5	0.006
18	43677803	G	C	18	46097837	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	6.09332237519757E-5	0.006
18	43677803	G	T	18	46097837	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	6.09332237519757E-5	0.006
18	43677804	A	C	18	46097838	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	4.45170072801036E-5	0.008
18	43677804	A	G	18	46097838	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	4.45170072801036E-5	0.008
18	43677804	A	T	18	46097838	y	y	UTR5	ATP5A1	.	.	UTR5;UTR3	ENSG00000152234;ENSG00000152234	.	.	6.39826558468951E-5	0.008
18	43678130	G	A	18	46098164	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.C68T:p.T23I;	1.24224105494999E-4	0.078
18	43678130	G	C	18	46098164	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.C68G:p.T23S;	9.67673866073461E-5	0.074
18	43678130	G	T	18	46098164	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.C68A:p.T23N;	1.33067587777862E-4	0.068
18	43678131	T	A	18	46098165	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.A67T:p.T23S;	5.94743894495184E-5	0.14
18	43678131	T	C	18	46098165	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.A67G:p.T23A;	7.20961722367392E-6	0.02
18	43678131	T	G	18	46098165	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.A67C:p.T23P;	1.00736857373539E-5	0.02
18	43678132	G	A	18	46098166	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.C66T:p.S22S;	3.22506320458771E-4	0.08
18	43678132	G	C	18	46098166	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.C66G:p.S22R;	3.31595981828621E-4	0.038
18	43678132	G	T	18	46098166	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.C66A:p.S22R;	9.4889660129899E-4	0.072
18	43678133	C	A	18	46098167	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G65T:p.S22I;	0.999991412297698	0.966
18	43678133	C	G	18	46098167	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G65C:p.S22T;	0.999994552537518	0.972
18	43678133	C	T	18	46098167	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G65A:p.S22N;	0.999991412297698	0.988
18	43678134	T	A	18	46098168	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.A64T:p.S22C;	0.999767342843259	0.936
18	43678134	T	C	18	46098168	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.A64G:p.S22G;	0.999767342843259	0.92
18	43678134	T	G	18	46098168	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.A64C:p.S22R;	0.999568568064996	0.93
18	43678135	C	A	18	46098169	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G63T:p.V21V;	0.977121821858347	0.736
18	43678135	C	G	18	46098169	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G63C:p.V21V;	0.963771846608238	0.808
18	43678135	C	T	18	46098169	y	n	UTR5	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G63A:p.V21V;	3.17597755746511E-5	0.048
18	43678136	A	C	18	46098170	y	n	splicing	ATP5A1(NM_001257334:exon2:c.60+2T>G;NM_004046:exon2:c.60+2T>G;NM_001001937:exon3:c.60+2T>G)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon3:c.60+2T>G;ENST00000398752:exon2:c.60+2T>G;ENST00000590665:exon2:c.60+2T>G;ENST00000590156:exon2:c.60+2T>G;ENST00000592364:exon2:c.60+2T>G;ENST00000589252:exon2:c.60+2T>G;ENST00000590406:exon3:c.60+2T>G;ENST00000591981:exon2:c.60+2T>G)	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.T62G:p.V21G;	0.999989917668626	0.928
18	43678136	A	G	18	46098170	y	n	splicing	ATP5A1(NM_001257334:exon2:c.60+2T>C;NM_004046:exon2:c.60+2T>C;NM_001001937:exon3:c.60+2T>C)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon3:c.60+2T>C;ENST00000398752:exon2:c.60+2T>C;ENST00000590665:exon2:c.60+2T>C;ENST00000590156:exon2:c.60+2T>C;ENST00000592364:exon2:c.60+2T>C;ENST00000589252:exon2:c.60+2T>C;ENST00000590406:exon3:c.60+2T>C;ENST00000591981:exon2:c.60+2T>C)	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.T62C:p.V21A;	0.999979387490325	0.946
18	43678136	A	T	18	46098170	y	n	splicing	ATP5A1(NM_001257334:exon2:c.60+2T>A;NM_004046:exon2:c.60+2T>A;NM_001001937:exon3:c.60+2T>A)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon3:c.60+2T>A;ENST00000398752:exon2:c.60+2T>A;ENST00000590665:exon2:c.60+2T>A;ENST00000590156:exon2:c.60+2T>A;ENST00000592364:exon2:c.60+2T>A;ENST00000589252:exon2:c.60+2T>A;ENST00000590406:exon3:c.60+2T>A;ENST00000591981:exon2:c.60+2T>A)	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.T62A:p.V21E;	0.999989917668626	0.928
18	43678137	C	A	18	46098171	y	n	splicing	ATP5A1(NM_001257334:exon2:c.60+1G>T;NM_004046:exon2:c.60+1G>T;NM_001001937:exon3:c.60+1G>T)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon3:c.60+1G>T;ENST00000398752:exon2:c.60+1G>T;ENST00000590665:exon2:c.60+1G>T;ENST00000590156:exon2:c.60+1G>T;ENST00000592364:exon2:c.60+1G>T;ENST00000589252:exon2:c.60+1G>T;ENST00000590406:exon3:c.60+1G>T;ENST00000591981:exon2:c.60+1G>T)	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G61T:p.V21L;	0.999981760802075	0.944
18	43678137	C	G	18	46098171	y	n	splicing	ATP5A1(NM_001257334:exon2:c.60+1G>C;NM_004046:exon2:c.60+1G>C;NM_001001937:exon3:c.60+1G>C)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon3:c.60+1G>C;ENST00000398752:exon2:c.60+1G>C;ENST00000590665:exon2:c.60+1G>C;ENST00000590156:exon2:c.60+1G>C;ENST00000592364:exon2:c.60+1G>C;ENST00000589252:exon2:c.60+1G>C;ENST00000590406:exon3:c.60+1G>C;ENST00000591981:exon2:c.60+1G>C)	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G61C:p.V21L;	0.999981760802075	0.944
18	43678137	C	T	18	46098171	y	n	splicing	ATP5A1(NM_001257334:exon2:c.60+1G>A;NM_004046:exon2:c.60+1G>A;NM_001001937:exon3:c.60+1G>A)	.	.	exonic;splicing	ENSG00000152234;ENSG00000152234(ENST00000282050:exon3:c.60+1G>A;ENST00000398752:exon2:c.60+1G>A;ENST00000590665:exon2:c.60+1G>A;ENST00000590156:exon2:c.60+1G>A;ENST00000592364:exon2:c.60+1G>A;ENST00000589252:exon2:c.60+1G>A;ENST00000590406:exon3:c.60+1G>A;ENST00000591981:exon2:c.60+1G>A)	nonsynonymous SNV	ENSG00000152234:ENST00000586592:exon1:c.G61A:p.V21M;	0.999981760802075	0.944
18	43678138	C	A	18	46098172	y	n	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon2:c.G60T:p.L20L;ATP5A1:NM_001257334:exon1:c.G60T:p.L20L;ATP5A1:NM_004046:exon1:c.G60T:p.L20L;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.G60T:p.L20L;ENSG00000152234:ENST00000398752:exon1:c.G60T:p.L20L;ENSG00000152234:ENST00000282050:exon2:c.G60T:p.L20L;ENSG00000152234:ENST00000591981:exon1:c.G60T:p.L20L;ENSG00000152234:ENST00000592364:exon1:c.G60T:p.L20L;ENSG00000152234:ENST00000590156:exon1:c.G60T:p.L20L;ENSG00000152234:ENST00000589252:exon1:c.G60T:p.L20L;ENSG00000152234:ENST00000586592:exon1:c.G60T:p.L20L;ENSG00000152234:ENST00000590406:exon2:c.G60T:p.L20L;	0.999975017469347	1.0
18	43678138	C	G	18	46098172	y	n	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon2:c.G60C:p.L20L;ATP5A1:NM_001257334:exon1:c.G60C:p.L20L;ATP5A1:NM_004046:exon1:c.G60C:p.L20L;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.G60C:p.L20L;ENSG00000152234:ENST00000398752:exon1:c.G60C:p.L20L;ENSG00000152234:ENST00000282050:exon2:c.G60C:p.L20L;ENSG00000152234:ENST00000591981:exon1:c.G60C:p.L20L;ENSG00000152234:ENST00000592364:exon1:c.G60C:p.L20L;ENSG00000152234:ENST00000590156:exon1:c.G60C:p.L20L;ENSG00000152234:ENST00000589252:exon1:c.G60C:p.L20L;ENSG00000152234:ENST00000586592:exon1:c.G60C:p.L20L;ENSG00000152234:ENST00000590406:exon2:c.G60C:p.L20L;	0.999996529962171	0.996
18	43678138	C	T	18	46098172	y	n	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon2:c.G60A:p.L20L;ATP5A1:NM_001257334:exon1:c.G60A:p.L20L;ATP5A1:NM_004046:exon1:c.G60A:p.L20L;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.G60A:p.L20L;ENSG00000152234:ENST00000398752:exon1:c.G60A:p.L20L;ENSG00000152234:ENST00000282050:exon2:c.G60A:p.L20L;ENSG00000152234:ENST00000591981:exon1:c.G60A:p.L20L;ENSG00000152234:ENST00000592364:exon1:c.G60A:p.L20L;ENSG00000152234:ENST00000590156:exon1:c.G60A:p.L20L;ENSG00000152234:ENST00000589252:exon1:c.G60A:p.L20L;ENSG00000152234:ENST00000586592:exon1:c.G60A:p.L20L;ENSG00000152234:ENST00000590406:exon2:c.G60A:p.L20L;	0.999978932527601	1.0
18	43678139	A	C	18	46098173	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon2:c.T59G:p.L20R;ATP5A1:NM_001257334:exon1:c.T59G:p.L20R;ATP5A1:NM_004046:exon1:c.T59G:p.L20R;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.T59G:p.L20R;ENSG00000152234:ENST00000398752:exon1:c.T59G:p.L20R;ENSG00000152234:ENST00000282050:exon2:c.T59G:p.L20R;ENSG00000152234:ENST00000591981:exon1:c.T59G:p.L20R;ENSG00000152234:ENST00000592364:exon1:c.T59G:p.L20R;ENSG00000152234:ENST00000590156:exon1:c.T59G:p.L20R;ENSG00000152234:ENST00000589252:exon1:c.T59G:p.L20R;ENSG00000152234:ENST00000586592:exon1:c.T59G:p.L20R;ENSG00000152234:ENST00000590406:exon2:c.T59G:p.L20R;	0.503343518804987	0.54
18	43678139	A	G	18	46098173	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon2:c.T59C:p.L20P;ATP5A1:NM_001257334:exon1:c.T59C:p.L20P;ATP5A1:NM_004046:exon1:c.T59C:p.L20P;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.T59C:p.L20P;ENSG00000152234:ENST00000398752:exon1:c.T59C:p.L20P;ENSG00000152234:ENST00000282050:exon2:c.T59C:p.L20P;ENSG00000152234:ENST00000591981:exon1:c.T59C:p.L20P;ENSG00000152234:ENST00000592364:exon1:c.T59C:p.L20P;ENSG00000152234:ENST00000590156:exon1:c.T59C:p.L20P;ENSG00000152234:ENST00000589252:exon1:c.T59C:p.L20P;ENSG00000152234:ENST00000586592:exon1:c.T59C:p.L20P;ENSG00000152234:ENST00000590406:exon2:c.T59C:p.L20P;	0.924632103434046	0.85
18	43678139	A	T	18	46098173	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon2:c.T59A:p.L20Q;ATP5A1:NM_001257334:exon1:c.T59A:p.L20Q;ATP5A1:NM_004046:exon1:c.T59A:p.L20Q;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.T59A:p.L20Q;ENSG00000152234:ENST00000398752:exon1:c.T59A:p.L20Q;ENSG00000152234:ENST00000282050:exon2:c.T59A:p.L20Q;ENSG00000152234:ENST00000591981:exon1:c.T59A:p.L20Q;ENSG00000152234:ENST00000592364:exon1:c.T59A:p.L20Q;ENSG00000152234:ENST00000590156:exon1:c.T59A:p.L20Q;ENSG00000152234:ENST00000589252:exon1:c.T59A:p.L20Q;ENSG00000152234:ENST00000586592:exon1:c.T59A:p.L20Q;ENSG00000152234:ENST00000590406:exon2:c.T59A:p.L20Q;	0.0149343838922864	0.2
18	43678140	G	A	18	46098174	y	n	exonic	ATP5A1	synonymous SNV	ATP5A1:NM_001001937:exon2:c.C58T:p.L20L;ATP5A1:NM_001257334:exon1:c.C58T:p.L20L;ATP5A1:NM_004046:exon1:c.C58T:p.L20L;	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.C58T:p.L20L;ENSG00000152234:ENST00000398752:exon1:c.C58T:p.L20L;ENSG00000152234:ENST00000282050:exon2:c.C58T:p.L20L;ENSG00000152234:ENST00000591981:exon1:c.C58T:p.L20L;ENSG00000152234:ENST00000592364:exon1:c.C58T:p.L20L;ENSG00000152234:ENST00000590156:exon1:c.C58T:p.L20L;ENSG00000152234:ENST00000589252:exon1:c.C58T:p.L20L;ENSG00000152234:ENST00000586592:exon1:c.C58T:p.L20L;ENSG00000152234:ENST00000590406:exon2:c.C58T:p.L20L;	0.998202189297646	0.812
18	43678140	G	C	18	46098174	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon2:c.C58G:p.L20V;ATP5A1:NM_001257334:exon1:c.C58G:p.L20V;ATP5A1:NM_004046:exon1:c.C58G:p.L20V;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.C58G:p.L20V;ENSG00000152234:ENST00000398752:exon1:c.C58G:p.L20V;ENSG00000152234:ENST00000282050:exon2:c.C58G:p.L20V;ENSG00000152234:ENST00000591981:exon1:c.C58G:p.L20V;ENSG00000152234:ENST00000592364:exon1:c.C58G:p.L20V;ENSG00000152234:ENST00000590156:exon1:c.C58G:p.L20V;ENSG00000152234:ENST00000589252:exon1:c.C58G:p.L20V;ENSG00000152234:ENST00000586592:exon1:c.C58G:p.L20V;ENSG00000152234:ENST00000590406:exon2:c.C58G:p.L20V;	0.0781209338031682	0.332
18	43678140	G	T	18	46098174	y	n	exonic	ATP5A1	nonsynonymous SNV	ATP5A1:NM_001001937:exon2:c.C58A:p.L20M;ATP5A1:NM_001257334:exon1:c.C58A:p.L20M;ATP5A1:NM_004046:exon1:c.C58A:p.L20M;	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000590665:exon1:c.C58A:p.L20M;ENSG00000152234:ENST00000398752:exon1:c.C58A:p.L20M;ENSG00000152234:ENST00000282050:exon2:c.C58A:p.L20M;ENSG00000152234:ENST00000591981:exon1:c.C58A:p.L20M;ENSG00000152234:ENST00000592364:exon1:c.C58A:p.L20M;ENSG00000152234:ENST00000590156:exon1:c.C58A:p.L20M;ENSG00000152234:ENST00000589252:exon1:c.C58A:p.L20M;ENSG00000152234:ENST00000586592:exon1:c.C58A:p.L20M;ENSG00000152234:ENST00000590406:exon2:c.C58A:p.L20M;	0.92763340395075	0.666
18	43678244	G	A	18	46098278	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	3.39136187856362E-5	.
18	43678244	G	C	18	46098278	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	6.84559754728615E-5	.
18	43678244	G	T	18	46098278	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	3.91327324009227E-4	.
18	43678245	A	C	18	46098279	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.00151766047298314	.
18	43678245	A	G	18	46098279	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.00224767871959385	.
18	43678245	A	T	18	46098279	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	6.75495690001149E-4	.
18	43678246	C	A	18	46098280	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999847901732325	.
18	43678246	C	G	18	46098280	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999847901732325	.
18	43678246	C	T	18	46098280	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999847901732325	.
18	43678247	T	A	18	46098281	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999630805337118	.
18	43678247	T	C	18	46098281	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999297270877305	.
18	43678247	T	G	18	46098281	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999297270877305	.
18	43678248	G	A	18	46098282	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.829635684167306	.
18	43678248	G	C	18	46098282	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.999930887185458	.
18	43678248	G	T	18	46098282	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.997824133543243	.
18	43678249	A	C	18	46098283	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.618131580948734	.
18	43678249	A	G	18	46098283	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.183450365982128	.
18	43678249	A	T	18	46098283	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.69556989313584	.
18	43678250	C	A	18	46098284	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.342349851407389	.
18	43678250	C	G	18	46098284	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.239422713912704	.
18	43678250	C	T	18	46098284	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.892042791655883	.
18	43678251	T	A	18	46098285	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.22783067313342	.
18	43678251	T	C	18	46098285	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.623946574886435	.
18	43678251	T	G	18	46098285	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.12867841671956	.
18	43678252	G	A	18	46098286	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.816324265843395	.
18	43678252	G	C	18	46098286	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.998448675507683	.
18	43678252	G	T	18	46098286	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.99912066394469	.
18	43678253	G	A	18	46098287	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.83886094775581	.
18	43678253	G	C	18	46098287	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.998224845803711	.
18	43678253	G	T	18	46098287	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.997898970591464	.
18	43678254	G	A	18	46098288	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	4.19293990071388E-5	.
18	43678254	G	C	18	46098288	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.638347277842102	.
18	43678254	G	T	18	46098288	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.678662414008882	.
18	43678255	A	C	18	46098289	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.993800746652291	.
18	43678255	A	G	18	46098289	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.0697714771676194	.
18	43678255	A	T	18	46098289	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.996607016321189	.
18	43678256	C	A	18	46098290	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.404123788629439	.
18	43678256	C	G	18	46098290	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.339637565162118	.
18	43678256	C	T	18	46098290	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.946403409965251	.
18	43678257	A	C	18	46098291	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.997998899795727	.
18	43678257	A	G	18	46098291	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.36960909252864	.
18	43678257	A	T	18	46098291	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.998799850584081	.
18	43679261	A	C	18	46099295	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.60543209194121E-5	.
18	43679261	A	G	18	46099295	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.60543209194121E-5	.
18	43679261	A	T	18	46099295	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.12812791119265E-4	.
18	43679262	T	A	18	46099296	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	6.99122365689984E-4	.
18	43679262	T	C	18	46099296	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.84760995350354E-4	.
18	43679262	T	G	18	46099296	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.84760995350354E-4	.
18	43679263	G	A	18	46099297	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.07620641825897E-5	.
18	43679263	G	C	18	46099297	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.07620641825897E-5	.
18	43679263	G	T	18	46099297	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.07620641825897E-5	.
18	43679264	C	A	18	46099298	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.08908736062863E-5	.
18	43679264	C	G	18	46099298	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.08908736062863E-5	.
18	43679264	C	T	18	46099298	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.08908736062863E-5	.
18	43679265	T	A	18	46099299	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.3994564522384E-5	.
18	43679265	T	C	18	46099299	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.20862408805592E-5	.
18	43679265	T	G	18	46099299	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	3.20862408805592E-5	.
18	43679266	T	A	18	46099300	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.35059010235422E-5	.
18	43679266	T	C	18	46099300	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.35059010235422E-5	.
18	43679266	T	G	18	46099300	n	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.35059010235422E-5	.
18	43679267	A	C	18	46099301	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon2:c.38+2T>G)	.	.	8.10510540456813E-4	.
18	43679267	A	G	18	46099301	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon2:c.38+2T>C)	.	.	8.10510540456813E-4	.
18	43679267	A	T	18	46099301	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon2:c.38+2T>A)	.	.	8.10510540456813E-4	.
18	43679268	C	A	18	46099302	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon2:c.38+1G>T)	.	.	4.8748842217365E-5	.
18	43679268	C	G	18	46099302	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon2:c.38+1G>C)	.	.	4.8748842217365E-5	.
18	43679268	C	T	18	46099302	n	y	intronic	ATP5A1	.	.	splicing	ENSG00000152234(ENST00000585650:exon2:c.38+1G>A)	.	.	4.8748842217365E-5	.
18	43679269	C	A	18	46099303	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.G38T:p.R13M;	1.16010820218283E-5	.
18	43679269	C	G	18	46099303	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.G38C:p.R13T;	1.16010820218283E-5	.
18	43679269	C	T	18	46099303	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.G38A:p.R13K;	9.25783183751833E-6	.
18	43679270	T	A	18	46099304	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.A37T:p.R13W;	3.72652700648931E-5	.
18	43679270	T	C	18	46099304	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	nonsynonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.A37G:p.R13G;	3.72652700648931E-5	.
18	43679270	T	G	18	46099304	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.A37C:p.R13R;	3.72652700648931E-5	.
18	43679271	G	A	18	46099305	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.C36T:p.S12S;	3.15849948155271E-5	.
18	43679271	G	C	18	46099305	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.C36G:p.S12S;	3.15849948155271E-5	.
18	43679271	G	T	18	46099305	n	y	intronic	ATP5A1	.	.	exonic	ENSG00000152234	synonymous SNV	ENSG00000152234:ENST00000585650:exon1:c.C36A:p.S12S;	3.15849948155271E-5	.
18	43684095	A	C	18	46104129	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00925282218184145	0.04
18	43684095	A	G	18	46104129	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00764482882370293	0.036
18	43684095	A	T	18	46104129	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0125550538731433	0.06
18	43684096	A	C	18	46104130	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.84935491142066E-4	0.04
18	43684096	A	G	18	46104130	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.7905403730535E-4	0.062
18	43684096	A	T	18	46104130	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	1.78532433602984E-4	0.006
18	43684097	A	C	18	46104131	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.870622691758032	0.54
18	43684097	A	G	18	46104131	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.946750064002832	0.622
18	43684097	A	T	18	46104131	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.921798199706829	0.588
18	43684098	A	C	18	46104132	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00584882472367572	0.124
18	43684098	A	G	18	46104132	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.204854037762318	0.126
18	43684098	A	T	18	46104132	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.00848096680560383	0.098
18	43684099	C	A	18	46104133	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	4.26697225906065E-4	0.176
18	43684099	C	G	18	46104133	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.57673091394484E-4	0.302
18	43684099	C	T	18	46104133	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	5.24340163286467E-4	0.122
18	43684100	A	C	18	46104134	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	2.48380015150858E-4	0.05
18	43684100	A	G	18	46104134	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.013195724811445	0.11
18	43684100	A	T	18	46104134	y	y	intronic	ATP5A1	.	.	intronic	ENSG00000152234	.	.	0.0021246477528123	0.11
18	43684101	A	C	18	46104135	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.998799101780038	0.554
18	43684101	A	G	18	46104135	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.0940940495016926	0.364
18	43684101	A	T	18	46104135	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.998799101780038	0.556
18	43684102	C	A	18	46104136	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999918350337376	0.788
18	43684102	C	G	18	46104136	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999918350337376	0.788
18	43684102	C	T	18	46104136	y	y	splicing	ATP5A1	.	.	splicing	ENSG00000152234	.	.	0.999895338497716	0.784
18	43684103	C	A	18	46104137	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.999837898685492	0.828
18	43684103	C	G	18	46104137	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.999913404230103	0.852
18	43684103	C	T	18	46104137	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.999829457107705	0.878
18	43684104	T	A	18	46104138	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.984311726665748	0.86
18	43684104	T	C	18	46104138	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.980981918053413	0.848
18	43684104	T	G	18	46104138	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.973263366981489	0.85
18	43684105	G	A	18	46104139	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.645313745298682	0.614
18	43684105	G	C	18	46104139	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	0.0663367430388046	0.26
18	43684105	G	T	18	46104139	y	y	UTR5	ATP5A1	.	.	UTR5	ENSG00000152234	.	.	1.2815045874178E-4	0.018
18	43684405	C	A	18	46104439	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon1:c.C28A:p.Q10K;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon1:c.C28A:p.Q10K;ENSG00000152240:ENST00000586060:exon1:c.C28A:p.Q10K;ENSG00000152240:ENST00000592471:exon1:c.C28A:p.Q10K;ENSG00000152240:ENST00000282058:exon1:c.C28A:p.Q10K;ENSG00000152240:ENST00000589554:exon1:c.C28A:p.Q10K;ENSG00000152240:ENST00000585518:exon1:c.C28A:p.Q10K;ENSG00000152240:ENST00000592206:exon1:c.C28A:p.Q10K;	9.93507388316606E-5	0.114
18	43684405	C	G	18	46104439	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon1:c.C28G:p.Q10E;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon1:c.C28G:p.Q10E;ENSG00000152240:ENST00000586060:exon1:c.C28G:p.Q10E;ENSG00000152240:ENST00000592471:exon1:c.C28G:p.Q10E;ENSG00000152240:ENST00000282058:exon1:c.C28G:p.Q10E;ENSG00000152240:ENST00000589554:exon1:c.C28G:p.Q10E;ENSG00000152240:ENST00000585518:exon1:c.C28G:p.Q10E;ENSG00000152240:ENST00000592206:exon1:c.C28G:p.Q10E;	0.00192052264599883	0.086
18	43684405	C	T	18	46104439	y	y	exonic	HAUS1	stopgain SNV	HAUS1:NM_138443:exon1:c.C28T:p.Q10X;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000591715:exon1:c.C28T:p.Q10X;ENSG00000152240:ENST00000586060:exon1:c.C28T:p.Q10X;ENSG00000152240:ENST00000592471:exon1:c.C28T:p.Q10X;ENSG00000152240:ENST00000282058:exon1:c.C28T:p.Q10X;ENSG00000152240:ENST00000589554:exon1:c.C28T:p.Q10X;ENSG00000152240:ENST00000585518:exon1:c.C28T:p.Q10X;ENSG00000152240:ENST00000592206:exon1:c.C28T:p.Q10X;	0.97277927592133	0.822
18	43684406	A	C	18	46104440	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon1:c.A29C:p.Q10P;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon1:c.A29C:p.Q10P;ENSG00000152240:ENST00000586060:exon1:c.A29C:p.Q10P;ENSG00000152240:ENST00000592471:exon1:c.A29C:p.Q10P;ENSG00000152240:ENST00000282058:exon1:c.A29C:p.Q10P;ENSG00000152240:ENST00000589554:exon1:c.A29C:p.Q10P;ENSG00000152240:ENST00000585518:exon1:c.A29C:p.Q10P;ENSG00000152240:ENST00000592206:exon1:c.A29C:p.Q10P;	0.996866366817072	0.948
18	43684406	A	G	18	46104440	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon1:c.A29G:p.Q10R;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon1:c.A29G:p.Q10R;ENSG00000152240:ENST00000586060:exon1:c.A29G:p.Q10R;ENSG00000152240:ENST00000592471:exon1:c.A29G:p.Q10R;ENSG00000152240:ENST00000282058:exon1:c.A29G:p.Q10R;ENSG00000152240:ENST00000589554:exon1:c.A29G:p.Q10R;ENSG00000152240:ENST00000585518:exon1:c.A29G:p.Q10R;ENSG00000152240:ENST00000592206:exon1:c.A29G:p.Q10R;	0.985674448672397	0.838
18	43684406	A	T	18	46104440	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon1:c.A29T:p.Q10L;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon1:c.A29T:p.Q10L;ENSG00000152240:ENST00000586060:exon1:c.A29T:p.Q10L;ENSG00000152240:ENST00000592471:exon1:c.A29T:p.Q10L;ENSG00000152240:ENST00000282058:exon1:c.A29T:p.Q10L;ENSG00000152240:ENST00000589554:exon1:c.A29T:p.Q10L;ENSG00000152240:ENST00000585518:exon1:c.A29T:p.Q10L;ENSG00000152240:ENST00000592206:exon1:c.A29T:p.Q10L;	0.999133555123359	0.852
18	43684407	G	A	18	46104441	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon1:c.G30A:p.Q10Q;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000591715:exon1:c.G30A:p.Q10Q;ENSG00000152240:ENST00000586060:exon1:c.G30A:p.Q10Q;ENSG00000152240:ENST00000592471:exon1:c.G30A:p.Q10Q;ENSG00000152240:ENST00000282058:exon1:c.G30A:p.Q10Q;ENSG00000152240:ENST00000589554:exon1:c.G30A:p.Q10Q;ENSG00000152240:ENST00000585518:exon1:c.G30A:p.Q10Q;ENSG00000152240:ENST00000592206:exon1:c.G30A:p.Q10Q;	0.999978932284122	0.984
18	43684407	G	C	18	46104441	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon1:c.G30C:p.Q10H;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon1:c.G30C:p.Q10H;ENSG00000152240:ENST00000586060:exon1:c.G30C:p.Q10H;ENSG00000152240:ENST00000592471:exon1:c.G30C:p.Q10H;ENSG00000152240:ENST00000282058:exon1:c.G30C:p.Q10H;ENSG00000152240:ENST00000589554:exon1:c.G30C:p.Q10H;ENSG00000152240:ENST00000585518:exon1:c.G30C:p.Q10H;ENSG00000152240:ENST00000592206:exon1:c.G30C:p.Q10H;	0.999992097819931	0.998
18	43684407	G	T	18	46104441	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon1:c.G30T:p.Q10H;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon1:c.G30T:p.Q10H;ENSG00000152240:ENST00000586060:exon1:c.G30T:p.Q10H;ENSG00000152240:ENST00000592471:exon1:c.G30T:p.Q10H;ENSG00000152240:ENST00000282058:exon1:c.G30T:p.Q10H;ENSG00000152240:ENST00000589554:exon1:c.G30T:p.Q10H;ENSG00000152240:ENST00000585518:exon1:c.G30T:p.Q10H;ENSG00000152240:ENST00000592206:exon1:c.G30T:p.Q10H;	0.999966314651024	0.998
18	43684408	G	A	18	46104442	y	y	splicing	HAUS1(NM_138443:exon1:c.30+1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon1:c.30+1G>A;ENST00000592471:exon1:c.30+1G>A;ENST00000586060:exon1:c.30+1G>A;ENST00000591715:exon1:c.30+1G>A;ENST00000592206:exon1:c.30+1G>A;ENST00000585518:exon1:c.30+1G>A;ENST00000589554:exon1:c.30+1G>A;ENST00000593165:exon1:c.20+1G>A)	.	.	0.99995261935813	0.856
18	43684408	G	C	18	46104442	y	y	splicing	HAUS1(NM_138443:exon1:c.30+1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon1:c.30+1G>C;ENST00000592471:exon1:c.30+1G>C;ENST00000586060:exon1:c.30+1G>C;ENST00000591715:exon1:c.30+1G>C;ENST00000592206:exon1:c.30+1G>C;ENST00000585518:exon1:c.30+1G>C;ENST00000589554:exon1:c.30+1G>C;ENST00000593165:exon1:c.20+1G>C)	.	.	0.99995261935813	0.816
18	43684408	G	T	18	46104442	y	y	splicing	HAUS1(NM_138443:exon1:c.30+1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon1:c.30+1G>T;ENST00000592471:exon1:c.30+1G>T;ENST00000586060:exon1:c.30+1G>T;ENST00000591715:exon1:c.30+1G>T;ENST00000592206:exon1:c.30+1G>T;ENST00000585518:exon1:c.30+1G>T;ENST00000589554:exon1:c.30+1G>T;ENST00000593165:exon1:c.20+1G>T)	.	.	0.99995261935813	0.812
18	43684409	T	A	18	46104443	y	y	splicing	HAUS1(NM_138443:exon1:c.30+2T>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon1:c.30+2T>A;ENST00000592471:exon1:c.30+2T>A;ENST00000586060:exon1:c.30+2T>A;ENST00000591715:exon1:c.30+2T>A;ENST00000592206:exon1:c.30+2T>A;ENST00000585518:exon1:c.30+2T>A;ENST00000589554:exon1:c.30+2T>A;ENST00000593165:exon1:c.20+2T>A)	.	.	0.999979936337147	0.78
18	43684409	T	C	18	46104443	y	y	splicing	HAUS1(NM_138443:exon1:c.30+2T>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon1:c.30+2T>C;ENST00000592471:exon1:c.30+2T>C;ENST00000586060:exon1:c.30+2T>C;ENST00000591715:exon1:c.30+2T>C;ENST00000592206:exon1:c.30+2T>C;ENST00000585518:exon1:c.30+2T>C;ENST00000589554:exon1:c.30+2T>C;ENST00000593165:exon1:c.20+2T>C)	.	.	0.998981020948939	0.656
18	43684409	T	G	18	46104443	y	y	splicing	HAUS1(NM_138443:exon1:c.30+2T>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon1:c.30+2T>G;ENST00000592471:exon1:c.30+2T>G;ENST00000586060:exon1:c.30+2T>G;ENST00000591715:exon1:c.30+2T>G;ENST00000592206:exon1:c.30+2T>G;ENST00000585518:exon1:c.30+2T>G;ENST00000589554:exon1:c.30+2T>G;ENST00000593165:exon1:c.20+2T>G)	.	.	0.99998100241534	0.782
18	43684410	G	A	18	46104444	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.80650664972837E-4	0.206
18	43684410	G	C	18	46104444	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.98805112898929	0.702
18	43684410	G	T	18	46104444	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.974448579052264	0.644
18	43684411	A	C	18	46104445	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00870375958503089	0.288
18	43684411	A	G	18	46104445	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.965469193324804	0.476
18	43684411	A	T	18	46104445	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.560117963986977	0.354
18	43684412	T	A	18	46104446	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.4734652934946E-5	0.004
18	43684412	T	C	18	46104446	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.99153316237132E-5	0.002
18	43684412	T	G	18	46104446	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.21688211529884E-5	0.002
18	43684413	G	A	18	46104447	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.43418016064538E-4	0.024
18	43684413	G	C	18	46104447	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.51882296206908E-4	0.044
18	43684413	G	T	18	46104447	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.56887176219273E-5	0.012
18	43684414	G	A	18	46104448	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.54602002010013E-5	0.002
18	43684414	G	C	18	46104448	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.54602002010013E-5	0.0
18	43684414	G	T	18	46104448	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.87950467483234E-4	0.028
18	43684415	G	A	18	46104449	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.52637856596563E-5	0.02
18	43684415	G	C	18	46104449	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.0725373898105E-5	0.014
18	43684415	G	T	18	46104449	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.36526231665457E-4	0.104
18	43685148	T	A	18	46105182	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.995052460164408	0.828
18	43685148	T	C	18	46105182	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0299727101876359	0.304
18	43685148	T	G	18	46105182	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.92212788292225	0.684
18	43685149	T	A	18	46105183	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.998978677090269	0.874
18	43685149	T	C	18	46105183	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.777698978897423	0.464
18	43685149	T	G	18	46105183	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.994629122162541	0.788
18	43685150	T	A	18	46105184	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.996957464555999	0.72
18	43685150	T	C	18	46105184	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.4408687983764E-4	0.146
18	43685150	T	G	18	46105184	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.942155290044815	0.556
18	43685151	A	C	18	46105185	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.33511957707936E-4	0.288
18	43685151	A	G	18	46105185	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.80218595205082E-4	0.17
18	43685151	A	T	18	46105185	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.80218595205082E-4	0.242
18	43685152	A	C	18	46105186	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.70373002829532E-4	0.002
18	43685152	A	G	18	46105186	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.998684787586462	0.968
18	43685152	A	T	18	46105186	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.6236468669626E-4	0.006
18	43685153	T	A	18	46105187	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999174741884308	0.958
18	43685153	T	C	18	46105187	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.6236468669626E-4	0.022
18	43685153	T	G	18	46105187	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999942457707344	0.984
18	43685154	G	A	18	46105188	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.998269451185367	0.894
18	43685154	G	C	18	46105188	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00299894113650258	0.026
18	43685154	G	T	18	46105188	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0030312646392708	0.03
18	43685155	G	A	18	46105189	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.21133756078422E-5	0.0
18	43685155	G	C	18	46105189	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.89885581017695E-5	0.0
18	43685155	G	T	18	46105189	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.24509503816141E-5	0.062
18	43685156	T	A	18	46105190	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00511899055464053	0.03
18	43685156	T	C	18	46105190	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00455550459124179	0.016
18	43685156	T	G	18	46105190	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00486564087394127	0.016
18	43685157	T	A	18	46105191	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00822249841703427	0.294
18	43685157	T	C	18	46105191	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.08271088596397E-4	0.116
18	43685157	T	G	18	46105191	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.832168810876439	0.662
18	43685158	A	C	18	46105192	y	y	splicing	HAUS1(NM_138443:exon2:c.31-2A>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon2:c.31-2A>C;ENST00000586060:exon2:c.31-2A>C;ENST00000591715:exon2:c.31-2A>C;ENST00000592206:exon2:c.31-2A>C;ENST00000585518:exon2:c.31-2A>C;ENST00000589554:exon2:c.31-2A>C;ENST00000593165:exon2:c.21-2A>C)	.	.	0.999989917668626	0.924
18	43685158	A	G	18	46105192	y	y	splicing	HAUS1(NM_138443:exon2:c.31-2A>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon2:c.31-2A>G;ENST00000586060:exon2:c.31-2A>G;ENST00000591715:exon2:c.31-2A>G;ENST00000592206:exon2:c.31-2A>G;ENST00000585518:exon2:c.31-2A>G;ENST00000589554:exon2:c.31-2A>G;ENST00000593165:exon2:c.21-2A>G)	.	.	0.999989917668626	0.924
18	43685158	A	T	18	46105192	y	y	splicing	HAUS1(NM_138443:exon2:c.31-2A>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon2:c.31-2A>T;ENST00000586060:exon2:c.31-2A>T;ENST00000591715:exon2:c.31-2A>T;ENST00000592206:exon2:c.31-2A>T;ENST00000585518:exon2:c.31-2A>T;ENST00000589554:exon2:c.31-2A>T;ENST00000593165:exon2:c.21-2A>T)	.	.	0.999989917668626	0.924
18	43685159	G	A	18	46105193	y	y	splicing	HAUS1(NM_138443:exon2:c.31-1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon2:c.31-1G>A;ENST00000586060:exon2:c.31-1G>A;ENST00000591715:exon2:c.31-1G>A;ENST00000592206:exon2:c.31-1G>A;ENST00000585518:exon2:c.31-1G>A;ENST00000589554:exon2:c.31-1G>A;ENST00000593165:exon2:c.21-1G>A)	.	.	0.999981760802075	0.936
18	43685159	G	C	18	46105193	y	y	splicing	HAUS1(NM_138443:exon2:c.31-1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon2:c.31-1G>C;ENST00000586060:exon2:c.31-1G>C;ENST00000591715:exon2:c.31-1G>C;ENST00000592206:exon2:c.31-1G>C;ENST00000585518:exon2:c.31-1G>C;ENST00000589554:exon2:c.31-1G>C;ENST00000593165:exon2:c.21-1G>C)	.	.	0.999981760802075	0.936
18	43685159	G	T	18	46105193	y	y	splicing	HAUS1(NM_138443:exon2:c.31-1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon2:c.31-1G>T;ENST00000586060:exon2:c.31-1G>T;ENST00000591715:exon2:c.31-1G>T;ENST00000592206:exon2:c.31-1G>T;ENST00000585518:exon2:c.31-1G>T;ENST00000589554:exon2:c.31-1G>T;ENST00000593165:exon2:c.21-1G>T)	.	.	0.999981760802075	0.936
18	43685160	G	A	18	46105194	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.G31A:p.V11I;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G31A:p.V11I;ENSG00000152240:ENST00000586060:exon2:c.G31A:p.V11I;ENSG00000152240:ENST00000282058:exon2:c.G31A:p.V11I;ENSG00000152240:ENST00000589554:exon2:c.G31A:p.V11I;ENSG00000152240:ENST00000585518:exon2:c.G31A:p.V11I;ENSG00000152240:ENST00000592206:exon2:c.G31A:p.V11I;	0.02118637450135	0.3
18	43685160	G	C	18	46105194	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.G31C:p.V11L;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G31C:p.V11L;ENSG00000152240:ENST00000586060:exon2:c.G31C:p.V11L;ENSG00000152240:ENST00000282058:exon2:c.G31C:p.V11L;ENSG00000152240:ENST00000589554:exon2:c.G31C:p.V11L;ENSG00000152240:ENST00000585518:exon2:c.G31C:p.V11L;ENSG00000152240:ENST00000592206:exon2:c.G31C:p.V11L;	0.980351644672461	0.788
18	43685160	G	T	18	46105194	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.G31T:p.V11F;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G31T:p.V11F;ENSG00000152240:ENST00000586060:exon2:c.G31T:p.V11F;ENSG00000152240:ENST00000282058:exon2:c.G31T:p.V11F;ENSG00000152240:ENST00000589554:exon2:c.G31T:p.V11F;ENSG00000152240:ENST00000585518:exon2:c.G31T:p.V11F;ENSG00000152240:ENST00000592206:exon2:c.G31T:p.V11F;	0.998724152592245	0.934
18	43685161	T	A	18	46105195	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.T32A:p.V11D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T32A:p.V11D;ENSG00000152240:ENST00000586060:exon2:c.T32A:p.V11D;ENSG00000152240:ENST00000282058:exon2:c.T32A:p.V11D;ENSG00000152240:ENST00000589554:exon2:c.T32A:p.V11D;ENSG00000152240:ENST00000585518:exon2:c.T32A:p.V11D;ENSG00000152240:ENST00000592206:exon2:c.T32A:p.V11D;	0.79061178232638	0.818
18	43685161	T	C	18	46105195	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.T32C:p.V11A;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T32C:p.V11A;ENSG00000152240:ENST00000586060:exon2:c.T32C:p.V11A;ENSG00000152240:ENST00000282058:exon2:c.T32C:p.V11A;ENSG00000152240:ENST00000589554:exon2:c.T32C:p.V11A;ENSG00000152240:ENST00000585518:exon2:c.T32C:p.V11A;ENSG00000152240:ENST00000592206:exon2:c.T32C:p.V11A;	0.784522596134489	0.756
18	43685161	T	G	18	46105195	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.T32G:p.V11G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T32G:p.V11G;ENSG00000152240:ENST00000586060:exon2:c.T32G:p.V11G;ENSG00000152240:ENST00000282058:exon2:c.T32G:p.V11G;ENSG00000152240:ENST00000589554:exon2:c.T32G:p.V11G;ENSG00000152240:ENST00000585518:exon2:c.T32G:p.V11G;ENSG00000152240:ENST00000592206:exon2:c.T32G:p.V11G;	0.829891661618527	0.79
18	43685332	A	C	18	46105366	y	n	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.A203C:p.E68A;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A203C:p.E68A;ENSG00000152240:ENST00000586060:exon2:c.A203C:p.E68A;ENSG00000152240:ENST00000592471:exon2:c.A149C:p.E50A;ENSG00000152240:ENST00000282058:exon2:c.A203C:p.E68A;ENSG00000152240:ENST00000589554:exon2:c.A203C:p.E68A;ENSG00000152240:ENST00000585518:exon2:c.A203C:p.E68A;ENSG00000152240:ENST00000592206:exon2:c.A203C:p.E68A;	0.00689761423555816	0.028
18	43685332	A	G	18	46105366	y	n	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.A203G:p.E68G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A203G:p.E68G;ENSG00000152240:ENST00000586060:exon2:c.A203G:p.E68G;ENSG00000152240:ENST00000592471:exon2:c.A149G:p.E50G;ENSG00000152240:ENST00000282058:exon2:c.A203G:p.E68G;ENSG00000152240:ENST00000589554:exon2:c.A203G:p.E68G;ENSG00000152240:ENST00000585518:exon2:c.A203G:p.E68G;ENSG00000152240:ENST00000592206:exon2:c.A203G:p.E68G;	0.0315511870145078	0.15
18	43685332	A	T	18	46105366	y	n	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.A203T:p.E68V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A203T:p.E68V;ENSG00000152240:ENST00000586060:exon2:c.A203T:p.E68V;ENSG00000152240:ENST00000592471:exon2:c.A149T:p.E50V;ENSG00000152240:ENST00000282058:exon2:c.A203T:p.E68V;ENSG00000152240:ENST00000589554:exon2:c.A203T:p.E68V;ENSG00000152240:ENST00000585518:exon2:c.A203T:p.E68V;ENSG00000152240:ENST00000592206:exon2:c.A203T:p.E68V;	0.979512221918252	0.674
18	43685333	A	C	18	46105367	y	n	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.A204C:p.E68D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A204C:p.E68D;ENSG00000152240:ENST00000586060:exon2:c.A204C:p.E68D;ENSG00000152240:ENST00000592471:exon2:c.A150C:p.E50D;ENSG00000152240:ENST00000282058:exon2:c.A204C:p.E68D;ENSG00000152240:ENST00000589554:exon2:c.A204C:p.E68D;ENSG00000152240:ENST00000585518:exon2:c.A204C:p.E68D;ENSG00000152240:ENST00000592206:exon2:c.A204C:p.E68D;	0.172117502645886	0.546
18	43685333	A	G	18	46105367	y	n	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon2:c.A204G:p.E68E;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A204G:p.E68E;ENSG00000152240:ENST00000586060:exon2:c.A204G:p.E68E;ENSG00000152240:ENST00000592471:exon2:c.A150G:p.E50E;ENSG00000152240:ENST00000282058:exon2:c.A204G:p.E68E;ENSG00000152240:ENST00000589554:exon2:c.A204G:p.E68E;ENSG00000152240:ENST00000585518:exon2:c.A204G:p.E68E;ENSG00000152240:ENST00000592206:exon2:c.A204G:p.E68E;	0.698990589992172	0.52
18	43685333	A	T	18	46105367	y	n	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.A204T:p.E68D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A204T:p.E68D;ENSG00000152240:ENST00000586060:exon2:c.A204T:p.E68D;ENSG00000152240:ENST00000592471:exon2:c.A150T:p.E50D;ENSG00000152240:ENST00000282058:exon2:c.A204T:p.E68D;ENSG00000152240:ENST00000589554:exon2:c.A204T:p.E68D;ENSG00000152240:ENST00000585518:exon2:c.A204T:p.E68D;ENSG00000152240:ENST00000592206:exon2:c.A204T:p.E68D;	0.3332651873491	0.534
18	43685334	G	A	18	46105368	y	n	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.G205A:p.A69T;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G205A:p.G69S;ENSG00000152240:ENST00000586060:exon2:c.G205A:p.G69R;ENSG00000152240:ENST00000592471:exon2:c.G151A:p.A51T;ENSG00000152240:ENST00000282058:exon2:c.G205A:p.A69T;ENSG00000152240:ENST00000589554:exon2:c.G205A:p.G69R;ENSG00000152240:ENST00000585518:exon2:c.G205A:p.G69R;ENSG00000152240:ENST00000592206:exon2:c.G205A:p.V69I;	0.99993678808686	0.994
18	43685334	G	C	18	46105368	y	n	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.G205C:p.A69P;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G205C:p.G69R;ENSG00000152240:ENST00000586060:exon2:c.G205C:p.G69R;ENSG00000152240:ENST00000592471:exon2:c.G151C:p.A51P;ENSG00000152240:ENST00000282058:exon2:c.G205C:p.A69P;ENSG00000152240:ENST00000589554:exon2:c.G205C:p.G69R;ENSG00000152240:ENST00000585518:exon2:c.G205C:p.G69R;ENSG00000152240:ENST00000592206:exon2:c.G205C:p.V69L;	0.999992816375939	1.0
18	43685334	G	T	18	46105368	y	n	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon2:c.G205T:p.A69S;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000585518:exon2:c.G205T:p.G69X;	0.999935953401667	0.958
18	43685335	G	A	18	46105369	y	n	splicing	HAUS1(NM_138443:exon2:c.205+1G>A)	.	.	exonic;splicing	ENSG00000152240;ENSG00000152240(ENST00000282058:exon2:c.205+1G>A;ENST00000592471:exon2:c.151+1G>A;ENST00000586060:exon2:c.205+1G>A;ENST00000592206:exon2:c.205+1G>A;ENST00000585518:exon2:c.205+1G>A;ENST00000589554:exon2:c.205+1G>A;ENST00000593165:exon2:c.195+1G>A)	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G206A:p.G69D;	0.999956786857988	0.938
18	43685335	G	C	18	46105369	y	n	splicing	HAUS1(NM_138443:exon2:c.205+1G>C)	.	.	exonic;splicing	ENSG00000152240;ENSG00000152240(ENST00000282058:exon2:c.205+1G>C;ENST00000592471:exon2:c.151+1G>C;ENST00000586060:exon2:c.205+1G>C;ENST00000592206:exon2:c.205+1G>C;ENST00000585518:exon2:c.205+1G>C;ENST00000589554:exon2:c.205+1G>C;ENST00000593165:exon2:c.195+1G>C)	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G206C:p.G69A;	0.999955279531929	0.918
18	43685335	G	T	18	46105369	y	n	splicing	HAUS1(NM_138443:exon2:c.205+1G>T)	.	.	exonic;splicing	ENSG00000152240;ENSG00000152240(ENST00000282058:exon2:c.205+1G>T;ENST00000592471:exon2:c.151+1G>T;ENST00000586060:exon2:c.205+1G>T;ENST00000592206:exon2:c.205+1G>T;ENST00000585518:exon2:c.205+1G>T;ENST00000589554:exon2:c.205+1G>T;ENST00000593165:exon2:c.195+1G>T)	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G206T:p.G69V;	0.999956786857988	0.936
18	43685336	T	A	18	46105370	y	n	splicing	HAUS1(NM_138443:exon2:c.205+2T>A)	.	.	exonic;splicing	ENSG00000152240;ENSG00000152240(ENST00000282058:exon2:c.205+2T>A;ENST00000592471:exon2:c.151+2T>A;ENST00000586060:exon2:c.205+2T>A;ENST00000592206:exon2:c.205+2T>A;ENST00000585518:exon2:c.205+2T>A;ENST00000589554:exon2:c.205+2T>A;ENST00000593165:exon2:c.195+2T>A)	synonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T207A:p.G69G;	0.999964896440643	0.932
18	43685336	T	C	18	46105370	y	n	splicing	HAUS1(NM_138443:exon2:c.205+2T>C)	.	.	exonic;splicing	ENSG00000152240;ENSG00000152240(ENST00000282058:exon2:c.205+2T>C;ENST00000592471:exon2:c.151+2T>C;ENST00000586060:exon2:c.205+2T>C;ENST00000592206:exon2:c.205+2T>C;ENST00000585518:exon2:c.205+2T>C;ENST00000589554:exon2:c.205+2T>C;ENST00000593165:exon2:c.195+2T>C)	synonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T207C:p.G69G;	0.999752594654722	0.792
18	43685336	T	G	18	46105370	y	n	splicing	HAUS1(NM_138443:exon2:c.205+2T>G)	.	.	exonic;splicing	ENSG00000152240;ENSG00000152240(ENST00000282058:exon2:c.205+2T>G;ENST00000592471:exon2:c.151+2T>G;ENST00000586060:exon2:c.205+2T>G;ENST00000592206:exon2:c.205+2T>G;ENST00000585518:exon2:c.205+2T>G;ENST00000589554:exon2:c.205+2T>G;ENST00000593165:exon2:c.195+2T>G)	synonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T207G:p.G69G;	0.999951957019574	0.888
18	43685337	G	A	18	46105371	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G208A:p.E70K;	6.59895575299842E-5	0.01
18	43685337	G	C	18	46105371	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G208C:p.E70Q;	0.173556399256369	0.3
18	43685337	G	T	18	46105371	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000591715:exon2:c.G208T:p.E70X;	0.0808103700116028	0.272
18	43685338	A	C	18	46105372	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A209C:p.E70A;	0.528688183882162	0.462
18	43685338	A	G	18	46105372	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A209G:p.E70G;	0.678265351465802	0.6
18	43685338	A	T	18	46105372	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A209T:p.E70V;	0.987039607803519	0.724
18	43685339	G	A	18	46105373	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G210A:p.E70E;	0.996395120320064	0.87
18	43685339	G	C	18	46105373	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G210C:p.E70D;	0.998371233025069	0.842
18	43685339	G	T	18	46105373	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G210T:p.E70D;	0.997476046786417	0.898
18	43685340	A	C	18	46105374	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A211C:p.I71L;	6.01478330867789E-4	0.054
18	43685340	A	G	18	46105374	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A211G:p.I71V;	1.74263047865614E-4	0.002
18	43685340	A	T	18	46105374	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.A211T:p.I71F;	3.93860801735225E-4	0.01
18	43685341	T	A	18	46105375	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T212A:p.I71N;	1.44137136175839E-4	0.004
18	43685341	T	C	18	46105375	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T212C:p.I71T;	1.08940758337866E-4	0.002
18	43685341	T	G	18	46105375	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T212G:p.I71S;	1.08940758337866E-4	0.002
18	43685342	T	A	18	46105376	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T213A:p.I71I;	1.07548002777155E-4	0.0
18	43685342	T	C	18	46105376	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T213C:p.I71I;	7.48293208623238E-5	0.0
18	43685342	T	G	18	46105376	y	n	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.T213G:p.I71M;	7.48293208623238E-5	0.002
18	43685372	G	A	18	46105406	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000591715:exon2:c.G243A:p.X81X;	5.69439264402225E-5	0.0
18	43685372	G	C	18	46105406	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	stoploss SNV	ENSG00000152240:ENST00000591715:exon2:c.G243C:p.X81Y;	5.15941453541388E-5	0.002
18	43685372	G	T	18	46105406	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	stoploss SNV	ENSG00000152240:ENST00000591715:exon2:c.G243T:p.X81Y;	5.15941453541388E-5	0.002
18	43685373	A	C	18	46105407	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	7.70373002829532E-4	0.006
18	43685373	A	G	18	46105407	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	7.70373002829532E-4	0.006
18	43685373	A	T	18	46105407	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	7.70373002829532E-4	0.002
18	43685374	G	A	18	46105408	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	6.35428655471156E-5	0.004
18	43685374	G	C	18	46105408	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	8.49702646665041E-5	0.004
18	43685374	G	T	18	46105408	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	8.49702646665041E-5	0.018
18	43685375	G	A	18	46105409	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000591715:exon2:c.245+1G>A)	.	.	8.74094660865297E-5	0.0
18	43685375	G	C	18	46105409	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000591715:exon2:c.245+1G>C)	.	.	8.74094660865297E-5	0.0
18	43685375	G	T	18	46105409	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000591715:exon2:c.245+1G>T)	.	.	8.74094660865297E-5	0.0
18	43685376	T	A	18	46105410	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000591715:exon2:c.245+2T>A)	.	.	6.38113264713725E-5	0.006
18	43685376	T	C	18	46105410	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000591715:exon2:c.245+2T>C)	.	.	6.38113264713725E-5	0.006
18	43685376	T	G	18	46105410	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000591715:exon2:c.245+2T>G)	.	.	6.38113264713725E-5	0.006
18	43685377	A	C	18	46105411	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.58662744131228E-5	0.0
18	43685377	A	G	18	46105411	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.58662744131228E-5	0.0
18	43685377	A	T	18	46105411	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.58662744131228E-5	0.0
18	43685378	A	C	18	46105412	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.77993525610891E-5	0.0
18	43685378	A	G	18	46105412	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.77993525610891E-5	0.0
18	43685378	A	T	18	46105412	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.77993525610891E-5	0.0
18	43685379	C	A	18	46105413	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.74094660865297E-5	0.0
18	43685379	C	G	18	46105413	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.91977281725624E-5	0.0
18	43685379	C	T	18	46105413	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.74094660865297E-5	0.0
18	43685380	C	A	18	46105414	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.7106675465155E-5	0.002
18	43685380	C	G	18	46105414	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.7106675465155E-5	0.002
18	43685380	C	T	18	46105414	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.7106675465155E-5	0.002
18	43685381	A	C	18	46105415	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.15494709416875E-5	0.0
18	43685381	A	G	18	46105415	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.15494709416875E-5	0.0
18	43685381	A	T	18	46105415	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.93131076677124E-5	0.0
18	43685382	A	C	18	46105416	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.10673763910407E-5	0.004
18	43685382	A	G	18	46105416	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.10673763910407E-5	0.004
18	43685382	A	T	18	46105416	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.27321730447807E-5	0.004
18	43686659	G	A	18	46106693	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.60356957576445E-5	0.0
18	43686659	G	C	18	46106693	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.60356957576445E-5	0.0
18	43686659	G	T	18	46106693	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.60356957576445E-5	0.0
18	43686660	C	A	18	46106694	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.2358802390823E-5	0.0
18	43686660	C	G	18	46106694	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.2358802390823E-5	0.0
18	43686660	C	T	18	46106694	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.41256482875619E-5	0.002
18	43686661	T	A	18	46106695	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.87872098031522E-5	0.0
18	43686661	T	C	18	46106695	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.15849948155271E-5	0.0
18	43686661	T	G	18	46106695	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.15849948155271E-5	0.0
18	43686662	T	A	18	46106696	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00136636389108344	0.038
18	43686662	T	C	18	46106696	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.52202253982172E-4	0.042
18	43686662	T	G	18	46106696	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.52202253982172E-4	0.042
18	43686663	T	A	18	46106697	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.78864525412067E-5	0.0
18	43686663	T	C	18	46106697	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.78864525412067E-5	0.0
18	43686663	T	G	18	46106697	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.78864525412067E-5	0.0
18	43686664	T	A	18	46106698	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.42544334184685E-5	0.012
18	43686664	T	C	18	46106698	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.71486889510802E-5	0.008
18	43686664	T	G	18	46106698	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.71486889510802E-5	0.008
18	43686665	T	A	18	46106699	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.52173701430229E-5	0.072
18	43686665	T	C	18	46106699	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.52173701430229E-5	0.012
18	43686665	T	G	18	46106699	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.52173701430229E-5	0.012
18	43686666	T	A	18	46106700	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.60081151915995E-4	0.016
18	43686666	T	C	18	46106700	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.60081151915995E-4	0.01
18	43686666	T	G	18	46106700	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.60081151915995E-4	0.01
18	43686667	C	A	18	46106701	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.81587647171574E-5	0.006
18	43686667	C	G	18	46106701	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.81587647171574E-5	0.006
18	43686667	C	T	18	46106701	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.81587647171574E-5	0.01
18	43686668	C	A	18	46106702	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.07620641825897E-5	0.0
18	43686668	C	G	18	46106702	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686668	C	T	18	46106702	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.07620641825897E-5	0.0
18	43686669	A	C	18	46106703	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.206-2A>C)	.	.	1.0086839819578E-5	0.008
18	43686669	A	G	18	46106703	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.206-2A>G)	.	.	1.0086839819578E-5	0.008
18	43686669	A	T	18	46106703	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.206-2A>T)	.	.	1.0086839819578E-5	0.008
18	43686670	G	A	18	46106704	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.206-1G>A)	.	.	1.46004206284423E-5	0.0
18	43686670	G	C	18	46106704	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.206-1G>C)	.	.	1.46004206284423E-5	0.0
18	43686670	G	T	18	46106704	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.206-1G>T)	.	.	1.46004206284423E-5	0.0
18	43686671	T	A	18	46106705	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592206:exon3:c.T206A:p.V69D;	1.58927937202005E-5	0.008
18	43686671	T	C	18	46106705	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592206:exon3:c.T206C:p.V69A;	1.58927937202005E-5	0.008
18	43686671	T	G	18	46106705	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592206:exon3:c.T206G:p.V69G;	1.58927937202005E-5	0.008
18	43686672	T	A	18	46106706	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592206:exon3:c.T207A:p.V69V;	3.78205327723092E-5	0.006
18	43686672	T	C	18	46106706	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592206:exon3:c.T207C:p.V69V;	3.31929338280547E-5	0.0
18	43686672	T	G	18	46106706	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592206:exon3:c.T207G:p.V69V;	3.31929338280547E-5	0.0
18	43686797	A	C	18	46106831	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	1.0288925866825E-5	0.01
18	43686797	A	G	18	46106831	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	1.0288925866825E-5	0.01
18	43686797	A	T	18	46106831	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	1.58927937202005E-5	0.008
18	43686798	T	A	18	46106832	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	9.57123356397867E-5	0.018
18	43686798	T	C	18	46106832	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	9.57123356397867E-5	0.018
18	43686798	T	G	18	46106832	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	9.57123356397867E-5	0.018
18	43686799	G	A	18	46106833	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686799	G	C	18	46106833	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686799	G	T	18	46106833	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686800	G	A	18	46106834	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.334+1G>A)	.	.	3.11781305587823E-5	0.014
18	43686800	G	C	18	46106834	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.334+1G>C)	.	.	3.11781305587823E-5	0.02
18	43686800	G	T	18	46106834	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.334+1G>T)	.	.	3.11781305587823E-5	0.022
18	43686801	T	A	18	46106835	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.334+2T>A)	.	.	1.58927937202005E-5	0.008
18	43686801	T	C	18	46106835	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.334+2T>C)	.	.	1.0288925866825E-5	0.01
18	43686801	T	G	18	46106835	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000592206:exon3:c.334+2T>G)	.	.	1.0288925866825E-5	0.01
18	43686802	A	C	18	46106836	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686802	A	G	18	46106836	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686802	A	T	18	46106836	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686803	A	C	18	46106837	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.57123356397867E-5	0.018
18	43686803	A	G	18	46106837	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.57123356397867E-5	0.018
18	43686803	A	T	18	46106837	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.57123356397867E-5	0.018
18	43686804	A	C	18	46106838	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.45277156108894E-5	0.004
18	43686804	A	G	18	46106838	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.45277156108894E-5	0.004
18	43686804	A	T	18	46106838	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.45277156108894E-5	0.004
18	43686805	A	C	18	46106839	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686805	A	G	18	46106839	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686805	A	T	18	46106839	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.99153316237132E-5	0.0
18	43686806	C	A	18	46106840	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.9818138904481E-6	0.0
18	43686806	C	G	18	46106840	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.9818138904481E-6	0.0
18	43686806	C	T	18	46106840	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.9818138904481E-6	0.0
18	43686807	C	A	18	46106841	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.03814405504608E-5	0.0
18	43686807	C	G	18	46106841	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.03814405504608E-5	0.0
18	43686807	C	T	18	46106841	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.03814405504608E-5	0.0
18	43689601	C	A	18	46109635	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689601	C	G	18	46109635	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689601	C	T	18	46109635	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689602	T	A	18	46109636	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.0
18	43689602	T	C	18	46109636	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689602	T	G	18	46109636	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689603	C	A	18	46109637	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689603	C	G	18	46109637	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689603	C	T	18	46109637	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689604	C	A	18	46109638	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689604	C	G	18	46109638	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689604	C	T	18	46109638	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689605	C	A	18	46109639	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689605	C	G	18	46109639	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689605	C	T	18	46109639	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689606	G	A	18	46109640	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.10813846295192E-5	0.002
18	43689606	G	C	18	46109640	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.10813846295192E-5	0.002
18	43689606	G	T	18	46109640	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.10813846295192E-5	0.002
18	43689607	A	C	18	46109641	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.002
18	43689607	A	G	18	46109641	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.002
18	43689607	A	T	18	46109641	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.0
18	43689608	G	A	18	46109642	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689608	G	C	18	46109642	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689608	G	T	18	46109642	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689609	A	C	18	46109643	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.002
18	43689609	A	G	18	46109643	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.002
18	43689609	A	T	18	46109643	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.0
18	43689610	C	A	18	46109644	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689610	C	G	18	46109644	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689610	C	T	18	46109644	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689611	A	C	18	46109645	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.196-2A>C)	.	.	2.18551054981151E-5	0.002
18	43689611	A	G	18	46109645	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.196-2A>G)	.	.	2.18551054981151E-5	0.002
18	43689611	A	T	18	46109645	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.196-2A>T)	.	.	3.37582853480714E-5	0.0
18	43689612	G	A	18	46109646	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.196-1G>A)	.	.	2.18551054981151E-5	0.0
18	43689612	G	C	18	46109646	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.196-1G>C)	.	.	2.18551054981151E-5	0.0
18	43689612	G	T	18	46109646	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.196-1G>T)	.	.	2.18551054981151E-5	0.0
18	43689613	A	C	18	46109647	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	unknown	UNKNOWN	2.18551054981151E-5	0.002
18	43689613	A	G	18	46109647	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	unknown	UNKNOWN	2.18551054981151E-5	0.002
18	43689613	A	T	18	46109647	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	unknown	UNKNOWN	3.37582853480714E-5	0.0
18	43689614	G	A	18	46109648	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	unknown	UNKNOWN	2.18551054981151E-5	0.0
18	43689614	G	C	18	46109648	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	unknown	UNKNOWN	2.18551054981151E-5	0.0
18	43689614	G	T	18	46109648	n	y	intronic	HAUS1	.	.	exonic	ENSG00000152240	unknown	UNKNOWN	2.18551054981151E-5	0.0
18	43689748	C	A	18	46109782	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	2.10813846295192E-5	0.002
18	43689748	C	G	18	46109782	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	2.10813846295192E-5	0.002
18	43689748	C	T	18	46109782	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	2.10813846295192E-5	0.002
18	43689749	A	C	18	46109783	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689749	A	G	18	46109783	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689749	A	T	18	46109783	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	3.37582853480714E-5	0.0
18	43689750	G	A	18	46109784	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689750	G	C	18	46109784	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689750	G	T	18	46109784	n	y	intronic	HAUS1	.	.	UTR3	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689751	G	A	18	46109785	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.333+1G>A)	.	.	2.18551054981151E-5	0.0
18	43689751	G	C	18	46109785	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.333+1G>C)	.	.	2.18551054981151E-5	0.0
18	43689751	G	T	18	46109785	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.333+1G>T)	.	.	2.18551054981151E-5	0.0
18	43689752	T	A	18	46109786	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.333+2T>A)	.	.	3.37582853480714E-5	0.0
18	43689752	T	C	18	46109786	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.333+2T>C)	.	.	2.18551054981151E-5	0.0
18	43689752	T	G	18	46109786	n	y	intronic	HAUS1	.	.	splicing	ENSG00000152240(ENST00000593165:exon3:c.333+2T>G)	.	.	2.18551054981151E-5	0.0
18	43689753	A	C	18	46109787	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689753	A	G	18	46109787	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689753	A	T	18	46109787	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.0
18	43689754	A	C	18	46109788	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689754	A	G	18	46109788	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689754	A	T	18	46109788	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.0
18	43689755	T	A	18	46109789	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.02
18	43689755	T	C	18	46109789	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689755	T	G	18	46109789	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689756	T	A	18	46109790	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.0
18	43689756	T	C	18	46109790	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689756	T	G	18	46109790	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.002
18	43689757	T	A	18	46109791	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.0
18	43689757	T	C	18	46109791	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689757	T	G	18	46109791	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.002
18	43689758	T	A	18	46109792	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.37582853480714E-5	0.002
18	43689758	T	C	18	46109792	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43689758	T	G	18	46109792	n	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.18551054981151E-5	0.0
18	43698135	T	A	18	46118169	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.430692528311569	0.38
18	43698135	T	C	18	46118169	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00105374912410527	0.104
18	43698135	T	G	18	46118169	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.25911934978214	0.324
18	43698136	C	A	18	46118170	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.14664217023622E-4	0.23
18	43698136	C	G	18	46118170	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.58455083829842E-4	0.146
18	43698136	C	T	18	46118170	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.00559644919029E-5	0.062
18	43698137	A	C	18	46118171	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.08542086497323E-5	0.054
18	43698137	A	G	18	46118171	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.49950297021744E-5	0.044
18	43698137	A	T	18	46118171	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.17259769657437E-5	0.062
18	43698138	T	A	18	46118172	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999976116242971	0.97
18	43698138	T	C	18	46118172	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00272251042483258	0.138
18	43698138	T	G	18	46118172	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999976116242971	0.97
18	43698139	G	A	18	46118173	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00214517102203402	0.118
18	43698139	G	C	18	46118173	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.01737715276233E-5	0.006
18	43698139	G	T	18	46118173	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.52294805075225E-5	0.004
18	43698140	T	A	18	46118174	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0109824573782231	0.202
18	43698140	T	C	18	46118174	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.15363747099749E-4	0.024
18	43698140	T	G	18	46118174	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00411768321632997	0.146
18	43698141	T	A	18	46118175	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.994396101168612	0.772
18	43698141	T	C	18	46118175	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00547594571164233	0.114
18	43698141	T	G	18	46118175	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.954934954307288	0.74
18	43698142	T	A	18	46118176	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.99833309821257	0.928
18	43698142	T	C	18	46118176	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.311819266343843	0.314
18	43698142	T	G	18	46118176	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.99972088021192	0.942
18	43698143	T	A	18	46118177	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00362197191429306	0.026
18	43698143	T	C	18	46118177	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.8754657082887E-4	0.0
18	43698143	T	G	18	46118177	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00105110907214346	0.038
18	43698144	T	A	18	46118178	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0169575510954563	0.274
18	43698144	T	C	18	46118178	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.18091530175314E-5	0.084
18	43698144	T	G	18	46118178	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.993378299280178	0.78
18	43698145	A	C	18	46118179	y	y	splicing	HAUS1(NM_138443:exon3:c.206-2A>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.206-2A>C;ENST00000592471:exon3:c.152-2A>C;ENST00000591715:exon3:c.246-2A>C;ENST00000592206:exon4:c.335-2A>C;ENST00000593165:exon4:c.334-2A>C)	.	.	0.999990764389106	0.94
18	43698145	A	G	18	46118179	y	y	splicing	HAUS1(NM_138443:exon3:c.206-2A>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.206-2A>G;ENST00000592471:exon3:c.152-2A>G;ENST00000591715:exon3:c.246-2A>G;ENST00000592206:exon4:c.335-2A>G;ENST00000593165:exon4:c.334-2A>G)	.	.	0.999990764389106	0.94
18	43698145	A	T	18	46118179	y	y	splicing	HAUS1(NM_138443:exon3:c.206-2A>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.206-2A>T;ENST00000592471:exon3:c.152-2A>T;ENST00000591715:exon3:c.246-2A>T;ENST00000592206:exon4:c.335-2A>T;ENST00000593165:exon4:c.334-2A>T)	.	.	0.999990764389106	0.94
18	43698146	G	A	18	46118180	y	y	splicing	HAUS1(NM_138443:exon3:c.206-1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.206-1G>A;ENST00000592471:exon3:c.152-1G>A;ENST00000591715:exon3:c.246-1G>A;ENST00000592206:exon4:c.335-1G>A;ENST00000593165:exon4:c.334-1G>A)	.	.	0.999988630721284	0.938
18	43698146	G	C	18	46118180	y	y	splicing	HAUS1(NM_138443:exon3:c.206-1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.206-1G>C;ENST00000592471:exon3:c.152-1G>C;ENST00000591715:exon3:c.246-1G>C;ENST00000592206:exon4:c.335-1G>C;ENST00000593165:exon4:c.334-1G>C)	.	.	0.999988630721284	0.938
18	43698146	G	T	18	46118180	y	y	splicing	HAUS1(NM_138443:exon3:c.206-1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.206-1G>T;ENST00000592471:exon3:c.152-1G>T;ENST00000591715:exon3:c.246-1G>T;ENST00000592206:exon4:c.335-1G>T;ENST00000593165:exon4:c.334-1G>T)	.	.	0.999988630721284	0.938
18	43698147	C	A	18	46118181	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.C206A:p.A69D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.C152A:p.A51D;ENSG00000152240:ENST00000282058:exon3:c.C206A:p.A69D;	0.945724182244762	0.772
18	43698147	C	G	18	46118181	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.C206G:p.A69G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.C152G:p.A51G;ENSG00000152240:ENST00000282058:exon3:c.C206G:p.A69G;	0.00302948185610801	0.096
18	43698147	C	T	18	46118181	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.C206T:p.A69V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.C152T:p.A51V;ENSG00000152240:ENST00000282058:exon3:c.C206T:p.A69V;	0.995274448934303	0.942
18	43698148	C	A	18	46118182	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon3:c.C207A:p.A69A;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.C153A:p.A51A;ENSG00000152240:ENST00000282058:exon3:c.C207A:p.A69A;	8.1765166196896E-4	0.16
18	43698148	C	G	18	46118182	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon3:c.C207G:p.A69A;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.C153G:p.A51A;ENSG00000152240:ENST00000282058:exon3:c.C207G:p.A69A;	5.53110095848604E-5	0.016
18	43698148	C	T	18	46118182	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon3:c.C207T:p.A69A;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.C153T:p.A51A;ENSG00000152240:ENST00000282058:exon3:c.C207T:p.A69A;	5.71844202024096E-5	0.002
18	43698280	T	A	18	46118314	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon3:c.T339A:p.A113A;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.T285A:p.A95A;ENSG00000152240:ENST00000282058:exon3:c.T339A:p.A113A;	1.45506784019506E-4	0.026
18	43698280	T	C	18	46118314	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon3:c.T339C:p.A113A;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.T285C:p.A95A;ENSG00000152240:ENST00000282058:exon3:c.T339C:p.A113A;	1.0066043672824E-4	0.004
18	43698280	T	G	18	46118314	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon3:c.T339G:p.A113A;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.T285G:p.A95A;ENSG00000152240:ENST00000282058:exon3:c.T339G:p.A113A;	3.0364869168157E-4	0.034
18	43698281	A	C	18	46118315	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.A340C:p.S114R;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.A286C:p.S96R;ENSG00000152240:ENST00000282058:exon3:c.A340C:p.S114R;	0.987423835350271	0.828
18	43698281	A	G	18	46118315	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.A340G:p.S114G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.A286G:p.S96G;ENSG00000152240:ENST00000282058:exon3:c.A340G:p.S114G;	0.995003833510062	0.91
18	43698281	A	T	18	46118315	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.A340T:p.S114C;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.A286T:p.S96C;ENSG00000152240:ENST00000282058:exon3:c.A340T:p.S114C;	0.998717515704796	0.96
18	43698282	G	A	18	46118316	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.G341A:p.S114N;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.G287A:p.S96N;ENSG00000152240:ENST00000282058:exon3:c.G341A:p.S114N;	0.99998267502225	0.99
18	43698282	G	C	18	46118316	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.G341C:p.S114T;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.G287C:p.S96T;ENSG00000152240:ENST00000282058:exon3:c.G341C:p.S114T;	0.999996579472455	1.0
18	43698282	G	T	18	46118316	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon3:c.G341T:p.S114I;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon3:c.G287T:p.S96I;ENSG00000152240:ENST00000282058:exon3:c.G341T:p.S114I;	0.99999006121748	0.998
18	43698283	G	A	18	46118317	y	y	splicing	HAUS1(NM_138443:exon3:c.341+1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.341+1G>A;ENST00000592471:exon3:c.287+1G>A;ENST00000591715:exon3:c.381+1G>A;ENST00000592206:exon4:c.470+1G>A;ENST00000593165:exon4:c.469+1G>A)	.	.	0.999985532734767	0.936
18	43698283	G	C	18	46118317	y	y	splicing	HAUS1(NM_138443:exon3:c.341+1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.341+1G>C;ENST00000592471:exon3:c.287+1G>C;ENST00000591715:exon3:c.381+1G>C;ENST00000592206:exon4:c.470+1G>C;ENST00000593165:exon4:c.469+1G>C)	.	.	0.999985532734767	0.936
18	43698283	G	T	18	46118317	y	y	splicing	HAUS1(NM_138443:exon3:c.341+1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.341+1G>T;ENST00000592471:exon3:c.287+1G>T;ENST00000591715:exon3:c.381+1G>T;ENST00000592206:exon4:c.470+1G>T;ENST00000593165:exon4:c.469+1G>T)	.	.	0.999985532734767	0.936
18	43698284	T	A	18	46118318	y	y	splicing	HAUS1(NM_138443:exon3:c.341+2T>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.341+2T>A;ENST00000592471:exon3:c.287+2T>A;ENST00000591715:exon3:c.381+2T>A;ENST00000592206:exon4:c.470+2T>A;ENST00000593165:exon4:c.469+2T>A)	.	.	0.999988247793601	0.928
18	43698284	T	C	18	46118318	y	y	splicing	HAUS1(NM_138443:exon3:c.341+2T>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.341+2T>C;ENST00000592471:exon3:c.287+2T>C;ENST00000591715:exon3:c.381+2T>C;ENST00000592206:exon4:c.470+2T>C;ENST00000593165:exon4:c.469+2T>C)	.	.	0.99340600729494	0.656
18	43698284	T	G	18	46118318	y	y	splicing	HAUS1(NM_138443:exon3:c.341+2T>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon3:c.341+2T>G;ENST00000592471:exon3:c.287+2T>G;ENST00000591715:exon3:c.381+2T>G;ENST00000592206:exon4:c.470+2T>G;ENST00000593165:exon4:c.469+2T>G)	.	.	0.999988247793601	0.928
18	43698285	A	C	18	46118319	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999950198623349	0.97
18	43698285	A	G	18	46118319	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999389212534212	0.924
18	43698285	A	T	18	46118319	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999885139439939	0.99
18	43698286	A	C	18	46118320	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.998266591518394	0.924
18	43698286	A	G	18	46118320	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.997977931173448	0.964
18	43698286	A	T	18	46118320	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.996926481443194	0.928
18	43698287	T	A	18	46118321	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00120578325028998	0.05
18	43698287	T	C	18	46118321	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.2499721569985E-4	0.04
18	43698287	T	G	18	46118321	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.95693734613829E-4	0.056
18	43698288	T	A	18	46118322	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.120049032610674	0.306
18	43698288	T	C	18	46118322	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0482968013863364	0.396
18	43698288	T	G	18	46118322	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00923089742629199	0.226
18	43698289	C	A	18	46118323	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.38698268461807E-4	0.024
18	43698289	C	G	18	46118323	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.43592200623082E-4	0.028
18	43698289	C	T	18	46118323	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.95007305698641E-4	0.026
18	43698290	T	A	18	46118324	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0105076823156728	0.038
18	43698290	T	C	18	46118324	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00817736219361769	0.028
18	43698290	T	G	18	46118324	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0102376439405731	0.032
18	43699880	T	A	18	46119914	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.317174024718313	0.312
18	43699880	T	C	18	46119914	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.04042647278359E-4	0.044
18	43699880	T	G	18	46119914	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.99937997909219	0.932
18	43699881	T	A	18	46119915	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.994213352217873	0.768
18	43699881	T	C	18	46119915	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.204354377469533	0.26
18	43699881	T	G	18	46119915	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.993489114464836	0.724
18	43699882	C	A	18	46119916	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.22155760959822	0.288
18	43699882	C	G	18	46119916	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0218546641403966	0.132
18	43699882	C	T	18	46119916	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00788424584674501	0.076
18	43699883	T	A	18	46119917	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.896447773531807	0.676
18	43699883	T	C	18	46119917	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00963081082024998	0.166
18	43699883	T	G	18	46119917	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.908934840442747	0.624
18	43699884	T	A	18	46119918	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0680966160392627	0.34
18	43699884	T	C	18	46119918	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.73587933674313E-4	0.002
18	43699884	T	G	18	46119918	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00990034778321479	0.222
18	43699885	C	A	18	46119919	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00247521376632601	0.07
18	43699885	C	G	18	46119919	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00560901096992642	0.068
18	43699885	C	T	18	46119919	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.56893120468954E-4	0.006
18	43699886	T	A	18	46119920	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.979337843480556	0.672
18	43699886	T	C	18	46119920	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00520145860226591	0.144
18	43699886	T	G	18	46119920	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.988914404408607	0.672
18	43699887	T	A	18	46119921	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.989026813142394	0.746
18	43699887	T	C	18	46119921	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.100551894856004	0.194
18	43699887	T	G	18	46119921	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.983620471406442	0.742
18	43699888	T	A	18	46119922	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00276505849230116	0.074
18	43699888	T	C	18	46119922	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00375892264302515	0.17
18	43699888	T	G	18	46119922	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0172953472074731	0.018
18	43699889	T	A	18	46119923	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00813015463046973	0.254
18	43699889	T	C	18	46119923	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.73459608554897E-5	0.062
18	43699889	T	G	18	46119923	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.871848932121486	0.66
18	43699890	A	C	18	46119924	y	y	splicing	HAUS1(NM_138443:exon4:c.342-2A>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.342-2A>C;ENST00000592471:exon4:c.288-2A>C;ENST00000591715:exon4:c.382-2A>C;ENST00000592206:exon5:c.471-2A>C;ENST00000593165:exon5:c.470-2A>C)	.	.	0.999993672935256	0.94
18	43699890	A	G	18	46119924	y	y	splicing	HAUS1(NM_138443:exon4:c.342-2A>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.342-2A>G;ENST00000592471:exon4:c.288-2A>G;ENST00000591715:exon4:c.382-2A>G;ENST00000592206:exon5:c.471-2A>G;ENST00000593165:exon5:c.470-2A>G)	.	.	0.999993672935256	0.94
18	43699890	A	T	18	46119924	y	y	splicing	HAUS1(NM_138443:exon4:c.342-2A>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.342-2A>T;ENST00000592471:exon4:c.288-2A>T;ENST00000591715:exon4:c.382-2A>T;ENST00000592206:exon5:c.471-2A>T;ENST00000593165:exon5:c.470-2A>T)	.	.	0.999993672935256	0.944
18	43699891	G	A	18	46119925	y	y	splicing	HAUS1(NM_138443:exon4:c.342-1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.342-1G>A;ENST00000592471:exon4:c.288-1G>A;ENST00000591715:exon4:c.382-1G>A;ENST00000592206:exon5:c.471-1G>A;ENST00000593165:exon5:c.470-1G>A)	.	.	0.999988247793601	0.942
18	43699891	G	C	18	46119925	y	y	splicing	HAUS1(NM_138443:exon4:c.342-1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.342-1G>C;ENST00000592471:exon4:c.288-1G>C;ENST00000591715:exon4:c.382-1G>C;ENST00000592206:exon5:c.471-1G>C;ENST00000593165:exon5:c.470-1G>C)	.	.	0.999988247793601	0.936
18	43699891	G	T	18	46119925	y	y	splicing	HAUS1(NM_138443:exon4:c.342-1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.342-1G>T;ENST00000592471:exon4:c.288-1G>T;ENST00000591715:exon4:c.382-1G>T;ENST00000592206:exon5:c.471-1G>T;ENST00000593165:exon5:c.470-1G>T)	.	.	0.999988247793601	0.942
18	43699892	T	A	18	46119926	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.T342A:p.S114R;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon4:c.T288A:p.S96R;ENSG00000152240:ENST00000282058:exon4:c.T342A:p.S114R;	4.11841121774895E-4	0.024
18	43699892	T	C	18	46119926	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon4:c.T342C:p.S114S;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000592471:exon4:c.T288C:p.S96S;ENSG00000152240:ENST00000282058:exon4:c.T342C:p.S114S;	2.31872141892989E-4	0.012
18	43699892	T	G	18	46119926	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.T342G:p.S114R;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon4:c.T288G:p.S96R;ENSG00000152240:ENST00000282058:exon4:c.T342G:p.S114R;	0.00214050470667107	0.162
18	43699893	T	A	18	46119927	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.T343A:p.F115I;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon4:c.T289A:p.F97I;ENSG00000152240:ENST00000282058:exon4:c.T343A:p.F115I;	0.291633201207985	0.298
18	43699893	T	C	18	46119927	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.T343C:p.F115L;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon4:c.T289C:p.F97L;ENSG00000152240:ENST00000282058:exon4:c.T343C:p.F115L;	0.291633201207985	0.336
18	43699893	T	G	18	46119927	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.T343G:p.F115V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000592471:exon4:c.T289G:p.F97V;ENSG00000152240:ENST00000282058:exon4:c.T343G:p.F115V;	0.13975423840083	0.248
18	43700024	A	C	18	46120058	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.A474C:p.Q158H;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon4:c.A474C:p.Q158H;	0.0089605504497276	0.144
18	43700024	A	G	18	46120058	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon4:c.A474G:p.Q158Q;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000282058:exon4:c.A474G:p.Q158Q;	0.00739104295506674	0.112
18	43700024	A	T	18	46120058	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.A474T:p.Q158H;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon4:c.A474T:p.Q158H;	0.570459643851327	0.34
18	43700025	G	A	18	46120059	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.G475A:p.E159K;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon4:c.G475A:p.E159K;	0.00646981798604245	0.1
18	43700025	G	C	18	46120059	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.G475C:p.E159Q;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon4:c.G475C:p.E159Q;	0.00852423386829091	0.054
18	43700025	G	T	18	46120059	y	y	exonic	HAUS1	stopgain SNV	HAUS1:NM_138443:exon4:c.G475T:p.E159X;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000282058:exon4:c.G475T:p.E159X;	0.980763478494536	0.71
18	43700026	A	C	18	46120060	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.A476C:p.E159A;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon4:c.A476C:p.E159A;	0.0547896883870279	0.5
18	43700026	A	G	18	46120060	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.A476G:p.E159G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon4:c.A476G:p.E159G;	0.0254395666319117	0.198
18	43700026	A	T	18	46120060	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon4:c.A476T:p.E159V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon4:c.A476T:p.E159V;	0.514672770670916	0.514
18	43700027	G	A	18	46120061	y	y	splicing	HAUS1(NM_138443:exon4:c.476+1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.476+1G>A;ENST00000591715:exon4:c.516+1G>A;ENST00000592206:exon5:c.605+1G>A;ENST00000593165:exon5:c.604+1G>A)	.	.	0.999988247793601	0.928
18	43700027	G	C	18	46120061	y	y	splicing	HAUS1(NM_138443:exon4:c.476+1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.476+1G>C;ENST00000591715:exon4:c.516+1G>C;ENST00000592206:exon5:c.605+1G>C;ENST00000593165:exon5:c.604+1G>C)	.	.	0.999978952611685	0.93
18	43700027	G	T	18	46120061	y	y	splicing	HAUS1(NM_138443:exon4:c.476+1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.476+1G>T;ENST00000591715:exon4:c.516+1G>T;ENST00000592206:exon5:c.605+1G>T;ENST00000593165:exon5:c.604+1G>T)	.	.	0.999978952611685	0.93
18	43700028	T	A	18	46120062	y	y	splicing	HAUS1(NM_138443:exon4:c.476+2T>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.476+2T>A;ENST00000591715:exon4:c.516+2T>A;ENST00000592206:exon5:c.605+2T>A;ENST00000593165:exon5:c.604+2T>A)	.	.	0.999993519952936	0.926
18	43700028	T	C	18	46120062	y	y	splicing	HAUS1(NM_138443:exon4:c.476+2T>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.476+2T>C;ENST00000591715:exon4:c.516+2T>C;ENST00000592206:exon5:c.605+2T>C;ENST00000593165:exon5:c.604+2T>C)	.	.	0.996862220576903	0.608
18	43700028	T	G	18	46120062	y	y	splicing	HAUS1(NM_138443:exon4:c.476+2T>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon4:c.476+2T>G;ENST00000591715:exon4:c.516+2T>G;ENST00000592206:exon5:c.605+2T>G;ENST00000593165:exon5:c.604+2T>G)	.	.	0.999991582404039	0.926
18	43700029	A	C	18	46120063	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999739959581249	0.866
18	43700029	A	G	18	46120063	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00976256661337545	0.2
18	43700029	A	T	18	46120063	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999579003734928	0.826
18	43700030	A	C	18	46120064	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.989223558948304	0.672
18	43700030	A	G	18	46120064	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.993848393525564	0.82
18	43700030	A	T	18	46120064	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.995184225633829	0.78
18	43700031	G	A	18	46120065	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999965946354415	0.974
18	43700031	G	C	18	46120065	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999994574433215	0.978
18	43700031	G	T	18	46120065	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999987137823199	0.998
18	43700032	T	A	18	46120066	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.701601135890559	0.518
18	43700032	T	C	18	46120066	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.616340326743773	0.528
18	43700032	T	G	18	46120066	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.881247062109221	0.646
18	43700033	A	C	18	46120067	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.41036522063222E-6	0.0
18	43700033	A	G	18	46120067	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.41036522063222E-6	0.0
18	43700033	A	T	18	46120067	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.63360899965148E-5	0.0
18	43700034	A	C	18	46120068	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.04606049095208E-6	0.008
18	43700034	A	G	18	46120068	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.04606049095208E-6	0.006
18	43700034	A	T	18	46120068	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.04606049095208E-6	0.002
18	43702421	T	A	18	46122455	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999986091535941	0.962
18	43702421	T	C	18	46122455	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00489157696369178	0.078
18	43702421	T	G	18	46122455	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0258344187054274	0.238
18	43702422	G	A	18	46122456	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.0720449705245E-4	0.08
18	43702422	G	C	18	46122456	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.44666829607827E-5	0.048
18	43702422	G	T	18	46122456	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.48363063873883E-5	0.094
18	43702423	C	A	18	46122457	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0450652097353218	0.23
18	43702423	C	G	18	46122457	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0474326460238212	0.202
18	43702423	C	T	18	46122457	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0165981907982306	0.356
18	43702424	T	A	18	46122458	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.671258928349365	0.49
18	43702424	T	C	18	46122458	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.19462131769675	0.434
18	43702424	T	G	18	46122458	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.499000384096813	0.466
18	43702425	T	A	18	46122459	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0228260951170811	0.142
18	43702425	T	C	18	46122459	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.36987668417166E-4	0.004
18	43702425	T	G	18	46122459	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0074247101444817	0.12
18	43702426	T	A	18	46122460	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0652939727310223	0.13
18	43702426	T	C	18	46122460	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.8903820789995E-4	0.158
18	43702426	T	G	18	46122460	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0605302457766915	0.124
18	43702427	T	A	18	46122461	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.514944039020152	0.442
18	43702427	T	C	18	46122461	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00281924391602656	0.154
18	43702427	T	G	18	46122461	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.727144994267197	0.394
18	43702428	T	A	18	46122462	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.95102604714906E-4	0.158
18	43702428	T	C	18	46122462	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.36958002708028E-4	0.026
18	43702428	T	G	18	46122462	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0154908817341997	0.278
18	43702429	A	C	18	46122463	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.28550329012727E-4	0.004
18	43702429	A	G	18	46122463	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00105334339039978	0.168
18	43702429	A	T	18	46122463	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.83550837792179E-5	0.004
18	43702430	A	C	18	46122464	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00428562218324612	0.15
18	43702430	A	G	18	46122464	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.905360031094662	0.656
18	43702430	A	T	18	46122464	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0119462548268888	0.326
18	43702431	A	C	18	46122465	y	y	splicing	HAUS1(NM_138443:exon5:c.477-2A>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.477-2A>C;ENST00000586060:exon3:c.206-2A>C;ENST00000591715:exon5:c.517-2A>C;ENST00000592206:exon6:c.606-2A>C;ENST00000589554:exon3:c.206-2A>C;ENST00000593165:exon6:c.605-2A>C)	.	.	0.999988247793601	0.926
18	43702431	A	G	18	46122465	y	y	splicing	HAUS1(NM_138443:exon5:c.477-2A>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.477-2A>G;ENST00000586060:exon3:c.206-2A>G;ENST00000591715:exon5:c.517-2A>G;ENST00000592206:exon6:c.606-2A>G;ENST00000589554:exon3:c.206-2A>G;ENST00000593165:exon6:c.605-2A>G)	.	.	0.999988247793601	0.926
18	43702431	A	T	18	46122465	y	y	splicing	HAUS1(NM_138443:exon5:c.477-2A>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.477-2A>T;ENST00000586060:exon3:c.206-2A>T;ENST00000591715:exon5:c.517-2A>T;ENST00000592206:exon6:c.606-2A>T;ENST00000589554:exon3:c.206-2A>T;ENST00000593165:exon6:c.605-2A>T)	.	.	0.999988247793601	0.926
18	43702432	G	A	18	46122466	y	y	splicing	HAUS1(NM_138443:exon5:c.477-1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.477-1G>A;ENST00000586060:exon3:c.206-1G>A;ENST00000591715:exon5:c.517-1G>A;ENST00000592206:exon6:c.606-1G>A;ENST00000589554:exon3:c.206-1G>A;ENST00000593165:exon6:c.605-1G>A)	.	.	0.999985532734767	0.934
18	43702432	G	C	18	46122466	y	y	splicing	HAUS1(NM_138443:exon5:c.477-1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.477-1G>C;ENST00000586060:exon3:c.206-1G>C;ENST00000591715:exon5:c.517-1G>C;ENST00000592206:exon6:c.606-1G>C;ENST00000589554:exon3:c.206-1G>C;ENST00000593165:exon6:c.605-1G>C)	.	.	0.999985532734767	0.934
18	43702432	G	T	18	46122466	y	y	splicing	HAUS1(NM_138443:exon5:c.477-1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.477-1G>T;ENST00000586060:exon3:c.206-1G>T;ENST00000591715:exon5:c.517-1G>T;ENST00000592206:exon6:c.606-1G>T;ENST00000589554:exon3:c.206-1G>T;ENST00000593165:exon6:c.605-1G>T)	.	.	0.999985532734767	0.934
18	43702433	G	A	18	46122467	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon5:c.G477A:p.E159E;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000586060:exon3:c.G206A:p.G69E;ENSG00000152240:ENST00000589554:exon3:c.G206A:p.G69E;	0.00254135933276341	0.242
18	43702433	G	C	18	46122467	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G477C:p.E159D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000586060:exon3:c.G206C:p.G69A;ENSG00000152240:ENST00000282058:exon5:c.G477C:p.E159D;ENSG00000152240:ENST00000589554:exon3:c.G206C:p.G69A;	0.0100569278542385	0.5
18	43702433	G	T	18	46122467	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G477T:p.E159D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000586060:exon3:c.G206T:p.G69V;ENSG00000152240:ENST00000282058:exon5:c.G477T:p.E159D;ENSG00000152240:ENST00000589554:exon3:c.G206T:p.G69V;	0.660634782314651	0.526
18	43702434	G	A	18	46122468	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G478A:p.D160N;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.G478A:p.D160N;	0.970107833239727	0.698
18	43702434	G	C	18	46122468	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G478C:p.D160H;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.G478C:p.D160H;	0.960918342279873	0.874
18	43702434	G	T	18	46122468	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G478T:p.D160Y;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.G478T:p.D160Y;	0.975923679793169	0.788
18	43702554	G	A	18	46122588	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G598A:p.E200K;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.G598A:p.E200K;	0.438657689362299	0.484
18	43702554	G	C	18	46122588	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G598C:p.E200Q;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.G598C:p.E200Q;	0.959577415532313	0.634
18	43702554	G	T	18	46122588	y	y	exonic	HAUS1	stopgain SNV	HAUS1:NM_138443:exon5:c.G598T:p.E200X;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000282058:exon5:c.G598T:p.E200X;	0.984850948635181	0.754
18	43702555	A	C	18	46122589	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.A599C:p.E200A;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.A599C:p.E200A;	0.999954147574063	0.994
18	43702555	A	G	18	46122589	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.A599G:p.E200G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.A599G:p.E200G;	0.999977976710391	0.996
18	43702555	A	T	18	46122589	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.A599T:p.E200V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.A599T:p.E200V;	0.999947092404604	0.996
18	43702556	G	A	18	46122590	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon5:c.G600A:p.E200E;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.G600A:p.E200E;	0.99997242854295	0.99
18	43702556	G	C	18	46122590	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G600C:p.E200D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.G600C:p.E200D;	0.999997610789446	1.0
18	43702556	G	T	18	46122590	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon5:c.G600T:p.E200D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon5:c.G600T:p.E200D;	0.999992085169995	0.962
18	43702557	G	A	18	46122591	y	y	splicing	HAUS1(NM_138443:exon5:c.600+1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.600+1G>A;ENST00000586060:exon3:c.329+1G>A;ENST00000591715:exon5:c.640+1G>A;ENST00000592206:exon6:c.729+1G>A;ENST00000589554:exon3:c.329+1G>A;ENST00000593165:exon6:c.728+1G>A)	.	.	0.99995545544995	0.924
18	43702557	G	C	18	46122591	y	y	splicing	HAUS1(NM_138443:exon5:c.600+1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.600+1G>C;ENST00000586060:exon3:c.329+1G>C;ENST00000591715:exon5:c.640+1G>C;ENST00000592206:exon6:c.729+1G>C;ENST00000589554:exon3:c.329+1G>C;ENST00000593165:exon6:c.728+1G>C)	.	.	0.99995545544995	0.934
18	43702557	G	T	18	46122591	y	y	splicing	HAUS1(NM_138443:exon5:c.600+1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.600+1G>T;ENST00000586060:exon3:c.329+1G>T;ENST00000591715:exon5:c.640+1G>T;ENST00000592206:exon6:c.729+1G>T;ENST00000589554:exon3:c.329+1G>T;ENST00000593165:exon6:c.728+1G>T)	.	.	0.99995545544995	0.926
18	43702558	T	A	18	46122592	y	y	splicing	HAUS1(NM_138443:exon5:c.600+2T>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.600+2T>A;ENST00000586060:exon3:c.329+2T>A;ENST00000591715:exon5:c.640+2T>A;ENST00000592206:exon6:c.729+2T>A;ENST00000589554:exon3:c.329+2T>A;ENST00000593165:exon6:c.728+2T>A)	.	.	0.99994568797423	0.92
18	43702558	T	C	18	46122592	y	y	splicing	HAUS1(NM_138443:exon5:c.600+2T>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.600+2T>C;ENST00000586060:exon3:c.329+2T>C;ENST00000591715:exon5:c.640+2T>C;ENST00000592206:exon6:c.729+2T>C;ENST00000589554:exon3:c.329+2T>C;ENST00000593165:exon6:c.728+2T>C)	.	.	0.973697021054677	0.728
18	43702558	T	G	18	46122592	y	y	splicing	HAUS1(NM_138443:exon5:c.600+2T>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon5:c.600+2T>G;ENST00000586060:exon3:c.329+2T>G;ENST00000591715:exon5:c.640+2T>G;ENST00000592206:exon6:c.729+2T>G;ENST00000589554:exon3:c.329+2T>G;ENST00000593165:exon6:c.728+2T>G)	.	.	0.99994568797423	0.93
18	43702559	T	A	18	46122593	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.29187343018123E-5	0.036
18	43702559	T	C	18	46122593	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.06060090569769E-4	0.036
18	43702559	T	G	18	46122593	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.62353046608951E-5	0.014
18	43702560	T	A	18	46122594	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.33607000365445E-4	0.074
18	43702560	T	C	18	46122594	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.16400073951117E-4	0.028
18	43702560	T	G	18	46122594	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.8782616340266E-5	0.0
18	43702561	G	A	18	46122595	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999901616640391	0.97
18	43702561	G	C	18	46122595	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999975511377673	0.998
18	43702561	G	T	18	46122595	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999974972687419	0.988
18	43702562	T	A	18	46122596	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.991246512150362	0.736
18	43702562	T	C	18	46122596	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.996443352086352	0.846
18	43702562	T	G	18	46122596	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.99746909883403	0.79
18	43702563	A	C	18	46122597	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.66374948033511E-4	0.01
18	43702563	A	G	18	46122597	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.99250570766042E-4	0.01
18	43702563	A	T	18	46122597	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.27632319317569E-4	0.034
18	43702564	T	A	18	46122598	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.90180790762121E-4	0.008
18	43702564	T	C	18	46122598	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.52369808978214E-4	0.004
18	43702564	T	G	18	46122598	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.2991032373907E-4	0.056
18	43703253	T	A	18	46123287	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999976295276925	0.956
18	43703253	T	C	18	46123287	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.51898292365879E-4	0.14
18	43703253	T	G	18	46123287	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.937776733550219	0.598
18	43703254	G	A	18	46123288	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999461360938288	0.894
18	43703254	G	C	18	46123288	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.5025197961621E-4	0.014
18	43703254	G	T	18	46123288	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.62992815565374E-4	0.096
18	43703255	G	A	18	46123289	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.378001903206562	0.378
18	43703255	G	C	18	46123289	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.246088525444734	0.462
18	43703255	G	T	18	46123289	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.262634270606927	0.46
18	43703256	T	A	18	46123290	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.880407123563352	0.564
18	43703256	T	C	18	46123290	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.16221254716096E-5	0.07
18	43703256	T	G	18	46123290	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.871852640168871	0.582
18	43703257	A	C	18	46123291	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.78778313796105E-5	0.002
18	43703257	A	G	18	46123291	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.9842078666241E-5	0.008
18	43703257	A	T	18	46123291	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.78778313796105E-5	0.002
18	43703258	A	C	18	46123292	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.18829693581175E-4	0.016
18	43703258	A	G	18	46123292	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999243767627386	0.94
18	43703258	A	T	18	46123292	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.69825990141381E-4	0.006
18	43703259	T	A	18	46123293	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.88041394881832	0.654
18	43703259	T	C	18	46123293	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.57354593707865E-5	0.034
18	43703259	T	G	18	46123293	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999953773912019	0.982
18	43703260	T	A	18	46123294	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999593316923008	0.946
18	43703260	T	C	18	46123294	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0247850322324484	0.244
18	43703260	T	G	18	46123294	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.977812033317218	0.744
18	43703261	G	A	18	46123295	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.18600806874058E-5	0.026
18	43703261	G	C	18	46123295	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.28865513676586E-5	0.002
18	43703261	G	T	18	46123295	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.24224705861451E-5	0.002
18	43703262	T	A	18	46123296	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.116772782670401	0.39
18	43703262	T	C	18	46123296	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.08698236326038E-5	0.014
18	43703262	T	G	18	46123296	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.972432978703456	0.676
18	43703263	A	C	18	46123297	y	y	splicing	HAUS1(NM_138443:exon6:c.601-2A>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.601-2A>C;ENST00000591715:exon6:c.641-2A>C;ENST00000592206:exon7:c.730-2A>C;ENST00000585518:exon3:c.206-2A>C;ENST00000589554:exon4:c.330-2A>C;ENST00000593165:exon7:c.729-2A>C)	.	.	0.999990764389106	0.932
18	43703263	A	G	18	46123297	y	y	splicing	HAUS1(NM_138443:exon6:c.601-2A>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.601-2A>G;ENST00000591715:exon6:c.641-2A>G;ENST00000592206:exon7:c.730-2A>G;ENST00000585518:exon3:c.206-2A>G;ENST00000589554:exon4:c.330-2A>G;ENST00000593165:exon7:c.729-2A>G)	.	.	0.999990764389106	0.932
18	43703263	A	T	18	46123297	y	y	splicing	HAUS1(NM_138443:exon6:c.601-2A>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.601-2A>T;ENST00000591715:exon6:c.641-2A>T;ENST00000592206:exon7:c.730-2A>T;ENST00000585518:exon3:c.206-2A>T;ENST00000589554:exon4:c.330-2A>T;ENST00000593165:exon7:c.729-2A>T)	.	.	0.999990764389106	0.932
18	43703264	G	A	18	46123298	y	y	splicing	HAUS1(NM_138443:exon6:c.601-1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.601-1G>A;ENST00000591715:exon6:c.641-1G>A;ENST00000592206:exon7:c.730-1G>A;ENST00000585518:exon3:c.206-1G>A;ENST00000589554:exon4:c.330-1G>A;ENST00000593165:exon7:c.729-1G>A)	.	.	0.999989528922238	0.936
18	43703264	G	C	18	46123298	y	y	splicing	HAUS1(NM_138443:exon6:c.601-1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.601-1G>C;ENST00000591715:exon6:c.641-1G>C;ENST00000592206:exon7:c.730-1G>C;ENST00000585518:exon3:c.206-1G>C;ENST00000589554:exon4:c.330-1G>C;ENST00000593165:exon7:c.729-1G>C)	.	.	0.999989528922238	0.936
18	43703264	G	T	18	46123298	y	y	splicing	HAUS1(NM_138443:exon6:c.601-1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.601-1G>T;ENST00000591715:exon6:c.641-1G>T;ENST00000592206:exon7:c.730-1G>T;ENST00000585518:exon3:c.206-1G>T;ENST00000589554:exon4:c.330-1G>T;ENST00000593165:exon7:c.729-1G>T)	.	.	0.999989528922238	0.936
18	43703265	G	A	18	46123299	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.G601A:p.E201K;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.G601A:p.E201K;ENSG00000152240:ENST00000585518:exon3:c.G206A:p.G69E;	0.946156590447471	0.738
18	43703265	G	C	18	46123299	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.G601C:p.E201Q;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.G601C:p.E201Q;ENSG00000152240:ENST00000585518:exon3:c.G206C:p.G69A;	0.997799282332153	0.974
18	43703265	G	T	18	46123299	y	y	exonic	HAUS1	stopgain SNV	HAUS1:NM_138443:exon6:c.G601T:p.E201X;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000282058:exon6:c.G601T:p.E201X;	0.999965363937084	0.992
18	43703266	A	C	18	46123300	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.A602C:p.E201A;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.A602C:p.E201A;	0.0150480243865214	0.128
18	43703266	A	G	18	46123300	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.A602G:p.E201G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.A602G:p.E201G;	0.57031589735654	0.628
18	43703266	A	T	18	46123300	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.A602T:p.E201V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.A602T:p.E201V;	0.573935982537863	0.54
18	43703328	G	A	18	46123362	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.G664A:p.E222K;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.G664A:p.E222K;ENSG00000152240:ENST00000585518:exon3:c.G269A:p.R90K;	0.0200751467033664	0.228
18	43703328	G	C	18	46123362	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.G664C:p.E222Q;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.G664C:p.E222Q;ENSG00000152240:ENST00000585518:exon3:c.G269C:p.R90T;	4.78463479996348E-4	0.02
18	43703328	G	T	18	46123362	y	y	exonic	HAUS1	stopgain SNV	HAUS1:NM_138443:exon6:c.G664T:p.E222X;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000282058:exon6:c.G664T:p.E222X;	0.353180439074575	0.324
18	43703329	A	C	18	46123363	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.A665C:p.E222A;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.A665C:p.E222A;ENSG00000152240:ENST00000585518:exon3:c.A270C:p.R90S;	0.987392784174674	0.828
18	43703329	A	G	18	46123363	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.A665G:p.E222G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.A665G:p.E222G;	0.999545591113685	0.984
18	43703329	A	T	18	46123363	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.A665T:p.E222V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.A665T:p.E222V;ENSG00000152240:ENST00000585518:exon3:c.A270T:p.R90S;	0.999514959764624	0.98
18	43703330	G	A	18	46123364	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon6:c.G666A:p.E222E;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000585518:exon3:c.G271A:p.E91K;	0.996561570182539	0.926
18	43703330	G	C	18	46123364	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.G666C:p.E222D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon6:c.G666C:p.E222D;ENSG00000152240:ENST00000585518:exon3:c.G271C:p.E91Q;	0.999744209620744	0.754
18	43703330	G	T	18	46123364	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon6:c.G666T:p.E222D;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000585518:exon3:c.G271T:p.E91X;	0.988093321093398	0.812
18	43703331	G	A	18	46123365	y	y	splicing	HAUS1(NM_138443:exon6:c.666+1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.666+1G>A;ENST00000591715:exon6:c.706+1G>A;ENST00000592206:exon7:c.795+1G>A;ENST00000585518:exon3:c.271+1G>A;ENST00000589554:exon4:c.395+1G>A;ENST00000593165:exon7:c.794+1G>A)	.	.	0.999938990645747	0.946
18	43703331	G	C	18	46123365	y	y	splicing	HAUS1(NM_138443:exon6:c.666+1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.666+1G>C;ENST00000591715:exon6:c.706+1G>C;ENST00000592206:exon7:c.795+1G>C;ENST00000585518:exon3:c.271+1G>C;ENST00000589554:exon4:c.395+1G>C;ENST00000593165:exon7:c.794+1G>C)	.	.	0.999938990645747	0.924
18	43703331	G	T	18	46123365	y	y	splicing	HAUS1(NM_138443:exon6:c.666+1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.666+1G>T;ENST00000591715:exon6:c.706+1G>T;ENST00000592206:exon7:c.795+1G>T;ENST00000585518:exon3:c.271+1G>T;ENST00000589554:exon4:c.395+1G>T;ENST00000593165:exon7:c.794+1G>T)	.	.	0.999938990645747	0.944
18	43703332	T	A	18	46123366	y	y	splicing	HAUS1(NM_138443:exon6:c.666+2T>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.666+2T>A;ENST00000591715:exon6:c.706+2T>A;ENST00000592206:exon7:c.795+2T>A;ENST00000585518:exon3:c.271+2T>A;ENST00000589554:exon4:c.395+2T>A;ENST00000593165:exon7:c.794+2T>A)	.	.	0.999938221968836	0.894
18	43703332	T	C	18	46123366	y	y	splicing	HAUS1(NM_138443:exon6:c.666+2T>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.666+2T>C;ENST00000591715:exon6:c.706+2T>C;ENST00000592206:exon7:c.795+2T>C;ENST00000585518:exon3:c.271+2T>C;ENST00000589554:exon4:c.395+2T>C;ENST00000593165:exon7:c.794+2T>C)	.	.	0.99963676834952	0.854
18	43703332	T	G	18	46123366	y	y	splicing	HAUS1(NM_138443:exon6:c.666+2T>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon6:c.666+2T>G;ENST00000591715:exon6:c.706+2T>G;ENST00000592206:exon7:c.795+2T>G;ENST00000585518:exon3:c.271+2T>G;ENST00000589554:exon4:c.395+2T>G;ENST00000593165:exon7:c.794+2T>G)	.	.	0.999906100734258	0.888
18	43703333	G	A	18	46123367	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.6858594992653E-5	0.0
18	43703333	G	C	18	46123367	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0433672391311041	0.308
18	43703333	G	T	18	46123367	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0565675224117146	0.32
18	43703334	A	C	18	46123368	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.146872465745412	0.39
18	43703334	A	G	18	46123368	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.701661070794658	0.53
18	43703334	A	T	18	46123368	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.900658582355901	0.568
18	43703335	G	A	18	46123369	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.991100022105292	0.742
18	43703335	G	C	18	46123369	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.995679753629167	0.732
18	43703335	G	T	18	46123369	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.996824968520552	0.772
18	43703336	C	A	18	46123370	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00282756322184528	0.032
18	43703336	C	G	18	46123370	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.88271456603659E-4	0.036
18	43703336	C	T	18	46123370	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.09508855236828E-4	0.014
18	43703337	T	A	18	46123371	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.58143985448613E-4	0.0
18	43703337	T	C	18	46123371	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.58143985448613E-4	0.0
18	43703337	T	G	18	46123371	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.58143985448613E-4	0.0
18	43703338	T	A	18	46123372	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.65415371271916E-5	0.0
18	43703338	T	C	18	46123372	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.65415371271916E-5	0.0
18	43703338	T	G	18	46123372	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.40609027372233E-5	0.0
18	43704776	T	A	18	46124810	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00494641455861844	0.186
18	43704776	T	C	18	46124810	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00165191326211561	0.028
18	43704776	T	G	18	46124810	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00406510675395222	0.144
18	43704777	T	A	18	46124811	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00970676047836106	0.338
18	43704777	T	C	18	46124811	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00535490614880484	0.198
18	43704777	T	G	18	46124811	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0450597373181766	0.394
18	43704778	T	A	18	46124812	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00314285449613366	0.152
18	43704778	T	C	18	46124812	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.12187812606545E-4	0.098
18	43704778	T	G	18	46124812	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00634073199900473	0.088
18	43704779	T	A	18	46124813	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00313944190827149	0.168
18	43704779	T	C	18	46124813	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.16199853820866E-4	0.158
18	43704779	T	G	18	46124813	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00100873232229493	0.14
18	43704780	A	C	18	46124814	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.14959425503113E-4	0.0
18	43704780	A	G	18	46124814	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.15981548636431E-4	0.0
18	43704780	A	T	18	46124814	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.35463613720211E-4	0.0
18	43704781	C	A	18	46124815	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.44740744036318E-4	0.026
18	43704781	C	G	18	46124815	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999415342114958	0.948
18	43704781	C	T	18	46124815	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.39842617190633E-5	0.002
18	43704782	C	A	18	46124816	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0124413421474544	0.234
18	43704782	C	G	18	46124816	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0455615568629985	0.308
18	43704782	C	T	18	46124816	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.06417336520883E-4	0.05
18	43704783	C	A	18	46124817	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.11579240143953E-4	0.06
18	43704783	C	G	18	46124817	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00152214227675705	0.098
18	43704783	C	T	18	46124817	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.41887967750344E-4	0.03
18	43704784	C	A	18	46124818	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.18519725648678E-5	0.0
18	43704784	C	G	18	46124818	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.92287700572324E-5	0.0
18	43704784	C	T	18	46124818	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.92287700572324E-5	0.0
18	43704785	C	A	18	46124819	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.977171401460243	0.656
18	43704785	C	G	18	46124819	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999275826082334	0.916
18	43704785	C	T	18	46124819	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.04296044919779E-4	0.032
18	43704786	A	C	18	46124820	y	y	splicing	HAUS1(NM_138443:exon7:c.667-2A>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.667-2A>C;ENST00000586060:exon4:c.330-2A>C;ENST00000591715:exon7:c.707-2A>C;ENST00000592206:exon8:c.796-2A>C;ENST00000585518:exon4:c.272-2A>C;ENST00000589554:exon5:c.396-2A>C;ENST00000593165:exon8:c.795-2A>C)	.	.	0.999966514958823	0.96
18	43704786	A	G	18	46124820	y	y	splicing	HAUS1(NM_138443:exon7:c.667-2A>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.667-2A>G;ENST00000586060:exon4:c.330-2A>G;ENST00000591715:exon7:c.707-2A>G;ENST00000592206:exon8:c.796-2A>G;ENST00000585518:exon4:c.272-2A>G;ENST00000589554:exon5:c.396-2A>G;ENST00000593165:exon8:c.795-2A>G)	.	.	0.999966514958823	0.958
18	43704786	A	T	18	46124820	y	y	splicing	HAUS1(NM_138443:exon7:c.667-2A>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.667-2A>T;ENST00000586060:exon4:c.330-2A>T;ENST00000591715:exon7:c.707-2A>T;ENST00000592206:exon8:c.796-2A>T;ENST00000585518:exon4:c.272-2A>T;ENST00000589554:exon5:c.396-2A>T;ENST00000593165:exon8:c.795-2A>T)	.	.	0.999966203349492	0.958
18	43704787	G	A	18	46124821	y	y	splicing	HAUS1(NM_138443:exon7:c.667-1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.667-1G>A;ENST00000586060:exon4:c.330-1G>A;ENST00000591715:exon7:c.707-1G>A;ENST00000592206:exon8:c.796-1G>A;ENST00000585518:exon4:c.272-1G>A;ENST00000589554:exon5:c.396-1G>A;ENST00000593165:exon8:c.795-1G>A)	.	.	0.999915710762489	0.958
18	43704787	G	C	18	46124821	y	y	splicing	HAUS1(NM_138443:exon7:c.667-1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.667-1G>C;ENST00000586060:exon4:c.330-1G>C;ENST00000591715:exon7:c.707-1G>C;ENST00000592206:exon8:c.796-1G>C;ENST00000585518:exon4:c.272-1G>C;ENST00000589554:exon5:c.396-1G>C;ENST00000593165:exon8:c.795-1G>C)	.	.	0.999916487880886	0.952
18	43704787	G	T	18	46124821	y	y	splicing	HAUS1(NM_138443:exon7:c.667-1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.667-1G>T;ENST00000586060:exon4:c.330-1G>T;ENST00000591715:exon7:c.707-1G>T;ENST00000592206:exon8:c.796-1G>T;ENST00000585518:exon4:c.272-1G>T;ENST00000589554:exon5:c.396-1G>T;ENST00000593165:exon8:c.795-1G>T)	.	.	0.999915710762489	0.958
18	43704788	A	C	18	46124822	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.A667C:p.K223Q;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.A667C:p.K223Q;ENSG00000152240:ENST00000585518:exon4:c.A272C:p.E91A;	0.810671841872015	0.614
18	43704788	A	G	18	46124822	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.A667G:p.K223E;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.A667G:p.K223E;ENSG00000152240:ENST00000585518:exon4:c.A272G:p.E91G;	0.0185395234990218	0.196
18	43704788	A	T	18	46124822	y	y	exonic	HAUS1	stopgain SNV	HAUS1:NM_138443:exon7:c.A667T:p.K223X;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000282058:exon7:c.A667T:p.K223X;	0.684514647707171	0.522
18	43704789	A	C	18	46124823	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.A668C:p.K223T;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.A668C:p.K223T;ENSG00000152240:ENST00000585518:exon4:c.A273C:p.E91D;	0.00764001127435949	0.038
18	43704789	A	G	18	46124823	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.A668G:p.K223R;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.A668G:p.K223R;	0.00627031397219689	0.036
18	43704789	A	T	18	46124823	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.A668T:p.K223I;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.A668T:p.K223I;ENSG00000152240:ENST00000585518:exon4:c.A273T:p.E91D;	0.727421249765851	0.632
18	43704857	C	A	18	46124891	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.C736A:p.P246T;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.C736A:p.P246T;ENSG00000152240:ENST00000585518:exon4:c.C341A:p.A114D;	0.925742614732629	0.74
18	43704857	C	G	18	46124891	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.C736G:p.P246A;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.C736G:p.P246A;ENSG00000152240:ENST00000585518:exon4:c.C341G:p.A114G;	0.974432768741107	0.674
18	43704857	C	T	18	46124891	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.C736T:p.P246S;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.C736T:p.P246S;ENSG00000152240:ENST00000585518:exon4:c.C341T:p.A114V;	0.999212775495589	0.82
18	43704858	C	A	18	46124892	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.C737A:p.P246Q;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.C737A:p.P246Q;	0.942230261295229	0.634
18	43704858	C	G	18	46124892	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.C737G:p.P246R;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.C737G:p.P246R;	0.982308312014494	0.722
18	43704858	C	T	18	46124892	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon7:c.C737T:p.P246L;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon7:c.C737T:p.P246L;	0.748997527830503	0.536
18	43704859	G	A	18	46124893	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon7:c.G738A:p.P246P;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000585518:exon4:c.G343A:p.E115K;	0.999979433163194	0.978
18	43704859	G	C	18	46124893	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon7:c.G738C:p.P246P;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000585518:exon4:c.G343C:p.E115Q;	0.999991365466217	0.97
18	43704859	G	T	18	46124893	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon7:c.G738T:p.P246P;	exonic	ENSG00000152240	stopgain SNV	ENSG00000152240:ENST00000585518:exon4:c.G343T:p.E115X;	0.999965896841406	0.896
18	43704860	G	A	18	46124894	y	y	splicing	HAUS1(NM_138443:exon7:c.738+1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.738+1G>A;ENST00000586060:exon4:c.401+1G>A;ENST00000591715:exon7:c.778+1G>A;ENST00000585518:exon4:c.343+1G>A;ENST00000589554:exon5:c.467+1G>A;ENST00000593165:exon8:c.866+1G>A)	.	.	0.999981760802075	0.932
18	43704860	G	C	18	46124894	y	y	splicing	HAUS1(NM_138443:exon7:c.738+1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.738+1G>C;ENST00000586060:exon4:c.401+1G>C;ENST00000591715:exon7:c.778+1G>C;ENST00000585518:exon4:c.343+1G>C;ENST00000589554:exon5:c.467+1G>C;ENST00000593165:exon8:c.866+1G>C)	.	.	0.999981760802075	0.93
18	43704860	G	T	18	46124894	y	y	splicing	HAUS1(NM_138443:exon7:c.738+1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.738+1G>T;ENST00000586060:exon4:c.401+1G>T;ENST00000591715:exon7:c.778+1G>T;ENST00000585518:exon4:c.343+1G>T;ENST00000589554:exon5:c.467+1G>T;ENST00000593165:exon8:c.866+1G>T)	.	.	0.999981760802075	0.932
18	43704861	T	A	18	46124895	y	y	splicing	HAUS1(NM_138443:exon7:c.738+2T>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.738+2T>A;ENST00000586060:exon4:c.401+2T>A;ENST00000591715:exon7:c.778+2T>A;ENST00000585518:exon4:c.343+2T>A;ENST00000589554:exon5:c.467+2T>A;ENST00000593165:exon8:c.866+2T>A)	.	.	0.999989917668626	0.92
18	43704861	T	C	18	46124895	y	y	splicing	HAUS1(NM_138443:exon7:c.738+2T>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.738+2T>C;ENST00000586060:exon4:c.401+2T>C;ENST00000591715:exon7:c.778+2T>C;ENST00000585518:exon4:c.343+2T>C;ENST00000589554:exon5:c.467+2T>C;ENST00000593165:exon8:c.866+2T>C)	.	.	0.999927265809569	0.892
18	43704861	T	G	18	46124895	y	y	splicing	HAUS1(NM_138443:exon7:c.738+2T>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon7:c.738+2T>G;ENST00000586060:exon4:c.401+2T>G;ENST00000591715:exon7:c.778+2T>G;ENST00000585518:exon4:c.343+2T>G;ENST00000589554:exon5:c.467+2T>G;ENST00000593165:exon8:c.866+2T>G)	.	.	0.999989917668626	0.92
18	43704862	A	C	18	46124896	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999940559473784	0.964
18	43704862	A	G	18	46124896	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.99986494694616	0.934
18	43704862	A	T	18	46124896	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999947568895339	0.954
18	43704863	A	C	18	46124897	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.748589078657465	0.504
18	43704863	A	G	18	46124897	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.995773776417257	0.912
18	43704863	A	T	18	46124897	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.976722970878901	0.808
18	43704864	T	A	18	46124898	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.16032289395831E-4	0.006
18	43704864	T	C	18	46124898	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.70734295467612E-4	0.018
18	43704864	T	G	18	46124898	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.67573727621199E-4	0.09
18	43704865	A	C	18	46124899	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.43785563140695E-4	0.08
18	43704865	A	G	18	46124899	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.28499206660361E-5	0.008
18	43704865	A	T	18	46124899	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.27495011372653E-6	0.02
18	43704866	A	C	18	46124900	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.47348756796826E-5	0.0
18	43704866	A	G	18	46124900	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.69055991757209E-5	0.0
18	43704866	A	T	18	46124900	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.07910157512985E-4	0.0
18	43704867	T	A	18	46124901	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.26792417798816E-4	0.026
18	43704867	T	C	18	46124901	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.42884795527903E-4	0.028
18	43704867	T	G	18	46124901	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.28806331816231E-4	0.018
18	43705698	T	A	18	46125732	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00226118169112848	0.078
18	43705698	T	C	18	46125732	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.91340739036618E-4	0.018
18	43705698	T	G	18	46125732	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00162033077059933	0.09
18	43705699	T	A	18	46125733	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.129196607436468	0.458
18	43705699	T	C	18	46125733	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0130547971947971	0.114
18	43705699	T	G	18	46125733	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0248841572806235	0.344
18	43705700	T	A	18	46125734	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00888342254677892	0.148
18	43705700	T	C	18	46125734	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00182613460377503	0.048
18	43705700	T	G	18	46125734	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00419705963825278	0.18
18	43705701	T	A	18	46125735	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00676327730551594	0.18
18	43705701	T	C	18	46125735	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.6586052190111E-4	0.074
18	43705701	T	G	18	46125735	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00616721544486637	0.164
18	43705702	T	A	18	46125736	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0160480852345352	0.14
18	43705702	T	C	18	46125736	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.15004040284398E-4	0.03
18	43705702	T	G	18	46125736	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00800376383573235	0.22
18	43705703	T	A	18	46125737	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00205251204280641	0.104
18	43705703	T	C	18	46125737	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.58098982007508E-5	0.0
18	43705703	T	G	18	46125737	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.60198744212534E-4	0.06
18	43705704	T	A	18	46125738	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0143040810621178	0.18
18	43705704	T	C	18	46125738	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.0378435869852E-4	0.006
18	43705704	T	G	18	46125738	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0557060835370102	0.348
18	43705705	T	A	18	46125739	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.14443828330308E-4	0.046
18	43705705	T	C	18	46125739	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.87533371122988E-5	0.002
18	43705705	T	G	18	46125739	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00216007218566333	0.202
18	43705706	A	C	18	46125740	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.14171261558368E-5	0.0
18	43705706	A	G	18	46125740	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.66847073001613E-5	0.004
18	43705706	A	T	18	46125740	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.20260059069545E-4	0.002
18	43705707	A	C	18	46125741	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.46536953720934E-5	0.136
18	43705707	A	G	18	46125741	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0747117279367796	0.256
18	43705707	A	T	18	46125741	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.33554615585968E-4	0.016
18	43705708	A	C	18	46125742	y	y	splicing	HAUS1(NM_138443:exon8:c.739-2A>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.739-2A>C;ENST00000586060:exon5:c.402-2A>C;ENST00000591715:exon8:c.779-2A>C;ENST00000585518:exon5:c.344-2A>C;ENST00000589554:exon6:c.468-2A>C;ENST00000593165:exon9:c.867-2A>C)	.	.	0.999903621866699	0.858
18	43705708	A	G	18	46125742	y	y	splicing	HAUS1(NM_138443:exon8:c.739-2A>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.739-2A>G;ENST00000586060:exon5:c.402-2A>G;ENST00000591715:exon8:c.779-2A>G;ENST00000585518:exon5:c.344-2A>G;ENST00000589554:exon6:c.468-2A>G;ENST00000593165:exon9:c.867-2A>G)	.	.	0.999903621866699	0.858
18	43705708	A	T	18	46125742	y	y	splicing	HAUS1(NM_138443:exon8:c.739-2A>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.739-2A>T;ENST00000586060:exon5:c.402-2A>T;ENST00000591715:exon8:c.779-2A>T;ENST00000585518:exon5:c.344-2A>T;ENST00000589554:exon6:c.468-2A>T;ENST00000593165:exon9:c.867-2A>T)	.	.	0.999938221968836	0.894
18	43705709	G	A	18	46125743	y	y	splicing	HAUS1(NM_138443:exon8:c.739-1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.739-1G>A;ENST00000586060:exon5:c.402-1G>A;ENST00000591715:exon8:c.779-1G>A;ENST00000585518:exon5:c.344-1G>A;ENST00000589554:exon6:c.468-1G>A;ENST00000593165:exon9:c.867-1G>A)	.	.	0.99995586615188	0.932
18	43705709	G	C	18	46125743	y	y	splicing	HAUS1(NM_138443:exon8:c.739-1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.739-1G>C;ENST00000586060:exon5:c.402-1G>C;ENST00000591715:exon8:c.779-1G>C;ENST00000585518:exon5:c.344-1G>C;ENST00000589554:exon6:c.468-1G>C;ENST00000593165:exon9:c.867-1G>C)	.	.	0.999971209564868	0.938
18	43705709	G	T	18	46125743	y	y	splicing	HAUS1(NM_138443:exon8:c.739-1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.739-1G>T;ENST00000586060:exon5:c.402-1G>T;ENST00000591715:exon8:c.779-1G>T;ENST00000585518:exon5:c.344-1G>T;ENST00000589554:exon6:c.468-1G>T;ENST00000593165:exon9:c.867-1G>T)	.	.	0.99995586615188	0.94
18	43705710	A	C	18	46125744	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.A739C:p.N247H;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A739C:p.N247H;ENSG00000152240:ENST00000585518:exon5:c.A344C:p.E115A;	0.0122806067999188	0.14
18	43705710	A	G	18	46125744	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.A739G:p.N247D;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A739G:p.N247D;ENSG00000152240:ENST00000585518:exon5:c.A344G:p.E115G;	4.03586266921808E-4	0.048
18	43705710	A	T	18	46125744	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.A739T:p.N247Y;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A739T:p.N247Y;ENSG00000152240:ENST00000585518:exon5:c.A344T:p.E115V;	0.0305531968711277	0.07
18	43705711	A	C	18	46125745	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.A740C:p.N247T;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A740C:p.N247T;ENSG00000152240:ENST00000585518:exon5:c.A345C:p.E115D;	2.29862977440943E-4	0.018
18	43705711	A	G	18	46125745	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.A740G:p.N247S;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A740G:p.N247S;	7.47711700361453E-5	0.02
18	43705711	A	T	18	46125745	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.A740T:p.N247I;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A740T:p.N247I;ENSG00000152240:ENST00000585518:exon5:c.A345T:p.E115D;	2.69853683705697E-5	0.03
18	43705755	C	A	18	46125789	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.C784A:p.L262I;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.C784A:p.L262I;	2.78486627937897E-5	0.036
18	43705755	C	G	18	46125789	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.C784G:p.L262V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.C784G:p.L262V;	4.69699278162578E-5	0.026
18	43705755	C	T	18	46125789	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon8:c.C784T:p.L262L;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.C784T:p.L262L;	5.18253929438328E-4	0.06
18	43705756	T	A	18	46125790	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.T785A:p.L262Q;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.T785A:p.L262Q;	0.645886567138064	0.59
18	43705756	T	C	18	46125790	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.T785C:p.L262P;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.T785C:p.L262P;	0.762104917165169	0.806
18	43705756	T	G	18	46125790	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon8:c.T785G:p.L262R;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.T785G:p.L262R;	0.95698686470263	0.836
18	43705757	A	C	18	46125791	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon8:c.A786C:p.L262L;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A786C:p.L262L;	3.34254188810601E-4	0.004
18	43705757	A	G	18	46125791	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon8:c.A786G:p.L262L;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A786G:p.L262L;	3.01683694268743E-4	0.106
18	43705757	A	T	18	46125791	y	y	exonic	HAUS1	synonymous SNV	HAUS1:NM_138443:exon8:c.A786T:p.L262L;	exonic	ENSG00000152240	synonymous SNV	ENSG00000152240:ENST00000282058:exon8:c.A786T:p.L262L;	0.00111826361846861	0.094
18	43705758	G	A	18	46125792	y	y	splicing	HAUS1(NM_138443:exon8:c.786+1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.786+1G>A;ENST00000586060:exon5:c.449+1G>A;ENST00000591715:exon8:c.826+1G>A;ENST00000585518:exon5:c.391+1G>A;ENST00000589554:exon6:c.515+1G>A;ENST00000593165:exon9:c.914+1G>A)	.	.	0.999982737877662	0.938
18	43705758	G	C	18	46125792	y	y	splicing	HAUS1(NM_138443:exon8:c.786+1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.786+1G>C;ENST00000586060:exon5:c.449+1G>C;ENST00000591715:exon8:c.826+1G>C;ENST00000585518:exon5:c.391+1G>C;ENST00000589554:exon6:c.515+1G>C;ENST00000593165:exon9:c.914+1G>C)	.	.	0.999975938198618	0.932
18	43705758	G	T	18	46125792	y	y	splicing	HAUS1(NM_138443:exon8:c.786+1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.786+1G>T;ENST00000586060:exon5:c.449+1G>T;ENST00000591715:exon8:c.826+1G>T;ENST00000585518:exon5:c.391+1G>T;ENST00000589554:exon6:c.515+1G>T;ENST00000593165:exon9:c.914+1G>T)	.	.	0.999982737877662	0.932
18	43705759	T	A	18	46125793	y	y	splicing	HAUS1(NM_138443:exon8:c.786+2T>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.786+2T>A;ENST00000586060:exon5:c.449+2T>A;ENST00000591715:exon8:c.826+2T>A;ENST00000585518:exon5:c.391+2T>A;ENST00000589554:exon6:c.515+2T>A;ENST00000593165:exon9:c.914+2T>A)	.	.	0.999988247793601	0.926
18	43705759	T	C	18	46125793	y	y	splicing	HAUS1(NM_138443:exon8:c.786+2T>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.786+2T>C;ENST00000586060:exon5:c.449+2T>C;ENST00000591715:exon8:c.826+2T>C;ENST00000585518:exon5:c.391+2T>C;ENST00000589554:exon6:c.515+2T>C;ENST00000593165:exon9:c.914+2T>C)	.	.	0.995204987205212	0.722
18	43705759	T	G	18	46125793	y	y	splicing	HAUS1(NM_138443:exon8:c.786+2T>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon8:c.786+2T>G;ENST00000586060:exon5:c.449+2T>G;ENST00000591715:exon8:c.826+2T>G;ENST00000585518:exon5:c.391+2T>G;ENST00000589554:exon6:c.515+2T>G;ENST00000593165:exon9:c.914+2T>G)	.	.	0.999978952611685	0.928
18	43705760	A	C	18	46125794	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999591297611912	0.892
18	43705760	A	G	18	46125794	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.287431425349014	0.392
18	43705760	A	T	18	46125794	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999697394443962	0.93
18	43705761	A	C	18	46125795	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.931125267028417	0.634
18	43705761	A	G	18	46125795	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.982118113123965	0.852
18	43705761	A	T	18	46125795	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.995423688471425	0.864
18	43705762	G	A	18	46125796	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999986419357034	0.988
18	43705762	G	C	18	46125796	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999986419357034	0.97
18	43705762	G	T	18	46125796	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.999986419357034	0.986
18	43705763	T	A	18	46125797	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.901371785425425	0.556
18	43705763	T	C	18	46125797	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.53929614580541	0.536
18	43705763	T	G	18	46125797	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.776888202594509	0.588
18	43705764	A	C	18	46125798	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.01033672502834E-5	0.0
18	43705764	A	G	18	46125798	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.3995392500311E-5	0.0
18	43705764	A	T	18	46125798	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.83451585927357E-5	0.0
18	43705765	G	A	18	46125799	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	7.32008507961007E-5	0.0
18	43705765	G	C	18	46125799	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.66579566323271E-5	0.0
18	43705765	G	T	18	46125799	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.66579566323271E-5	0.0
18	43708029	T	A	18	46128063	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00449126833873118	0.096
18	43708029	T	C	18	46128063	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.54714134609545E-4	0.002
18	43708029	T	G	18	46128063	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00211259660904385	0.176
18	43708030	T	A	18	46128064	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0643299285210681	0.44
18	43708030	T	C	18	46128064	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00284572382488616	0.082
18	43708030	T	G	18	46128064	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.0437574245683996	0.426
18	43708031	C	A	18	46128065	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.008474934966766	0.056
18	43708031	C	G	18	46128065	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.9805804794913E-4	0.032
18	43708031	C	T	18	46128065	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.53477249960208E-5	0.0
18	43708032	T	A	18	46128066	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00551029422491876	0.128
18	43708032	T	C	18	46128066	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	2.00158302713818E-4	0.012
18	43708032	T	G	18	46128066	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00420516049321325	0.088
18	43708033	T	A	18	46128067	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	9.32137293044354E-4	0.07
18	43708033	T	C	18	46128067	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.97431146030083E-5	0.002
18	43708033	T	G	18	46128067	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	6.42566058022101E-4	0.088
18	43708034	C	A	18	46128068	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00193641585824311	0.054
18	43708034	C	G	18	46128068	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	5.64403570283748E-4	0.042
18	43708034	C	T	18	46128068	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.60745993545955E-5	0.002
18	43708035	C	A	18	46128069	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00199356175100735	0.14
18	43708035	C	G	18	46128069	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00130235173767194	0.104
18	43708035	C	T	18	46128069	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	4.62826099205067E-5	0.002
18	43708036	T	A	18	46128070	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.973545266046008	0.804
18	43708036	T	C	18	46128070	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.69805801653497E-5	0.006
18	43708036	T	G	18	46128070	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00221960082045095	0.148
18	43708037	G	A	18	46128071	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.83717475331356E-5	0.002
18	43708037	G	C	18	46128071	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	8.71617447096852E-6	0.0
18	43708037	G	T	18	46128071	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	1.51290618449768E-5	0.0
18	43708038	T	A	18	46128072	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.00766492704557328	0.176
18	43708038	T	C	18	46128072	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	3.95989883908768E-5	0.012
18	43708038	T	G	18	46128072	y	y	intronic	HAUS1	.	.	intronic	ENSG00000152240	.	.	0.967694893074455	0.63
18	43708039	A	C	18	46128073	y	y	splicing	HAUS1(NM_138443:exon9:c.787-2A>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon9:c.787-2A>C;ENST00000586060:exon6:c.450-2A>C;ENST00000591715:exon9:c.827-2A>C;ENST00000585518:exon6:c.392-2A>C;ENST00000589554:exon7:c.516-2A>C;ENST00000593165:exon10:c.915-2A>C)	.	.	0.999969255906173	0.85
18	43708039	A	G	18	46128073	y	y	splicing	HAUS1(NM_138443:exon9:c.787-2A>G)	.	.	splicing	ENSG00000152240(ENST00000282058:exon9:c.787-2A>G;ENST00000586060:exon6:c.450-2A>G;ENST00000591715:exon9:c.827-2A>G;ENST00000585518:exon6:c.392-2A>G;ENST00000589554:exon7:c.516-2A>G;ENST00000593165:exon10:c.915-2A>G)	.	.	0.999969255906173	0.84
18	43708039	A	T	18	46128073	y	y	splicing	HAUS1(NM_138443:exon9:c.787-2A>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon9:c.787-2A>T;ENST00000586060:exon6:c.450-2A>T;ENST00000591715:exon9:c.827-2A>T;ENST00000585518:exon6:c.392-2A>T;ENST00000589554:exon7:c.516-2A>T;ENST00000593165:exon10:c.915-2A>T)	.	.	0.999972155025474	0.866
18	43708040	G	A	18	46128074	y	y	splicing	HAUS1(NM_138443:exon9:c.787-1G>A)	.	.	splicing	ENSG00000152240(ENST00000282058:exon9:c.787-1G>A;ENST00000586060:exon6:c.450-1G>A;ENST00000591715:exon9:c.827-1G>A;ENST00000585518:exon6:c.392-1G>A;ENST00000589554:exon7:c.516-1G>A;ENST00000593165:exon10:c.915-1G>A)	.	.	0.99996748057446	0.91
18	43708040	G	C	18	46128074	y	y	splicing	HAUS1(NM_138443:exon9:c.787-1G>C)	.	.	splicing	ENSG00000152240(ENST00000282058:exon9:c.787-1G>C;ENST00000586060:exon6:c.450-1G>C;ENST00000591715:exon9:c.827-1G>C;ENST00000585518:exon6:c.392-1G>C;ENST00000589554:exon7:c.516-1G>C;ENST00000593165:exon10:c.915-1G>C)	.	.	0.999969242257053	0.896
18	43708040	G	T	18	46128074	y	y	splicing	HAUS1(NM_138443:exon9:c.787-1G>T)	.	.	splicing	ENSG00000152240(ENST00000282058:exon9:c.787-1G>T;ENST00000586060:exon6:c.450-1G>T;ENST00000591715:exon9:c.827-1G>T;ENST00000585518:exon6:c.392-1G>T;ENST00000589554:exon7:c.516-1G>T;ENST00000593165:exon10:c.915-1G>T)	.	.	0.99996748057446	0.908
18	43708041	G	A	18	46128075	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon9:c.G787A:p.D263N;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon9:c.G787A:p.D263N;	0.230704235342729	0.442
18	43708041	G	C	18	46128075	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon9:c.G787C:p.D263H;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon9:c.G787C:p.D263H;	0.847502658729819	0.682
18	43708041	G	T	18	46128075	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon9:c.G787T:p.D263Y;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon9:c.G787T:p.D263Y;	0.99788945142358	0.898
18	43708042	A	C	18	46128076	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon9:c.A788C:p.D263A;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon9:c.A788C:p.D263A;	1.95437775104509E-4	0.054
18	43708042	A	G	18	46128076	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon9:c.A788G:p.D263G;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon9:c.A788G:p.D263G;	0.00109394964491302	0.016
18	43708042	A	T	18	46128076	y	y	exonic	HAUS1	nonsynonymous SNV	HAUS1:NM_138443:exon9:c.A788T:p.D263V;	exonic	ENSG00000152240	nonsynonymous SNV	ENSG00000152240:ENST00000282058:exon9:c.A788T:p.D263V;	0.00148408196138061	0.018
18	43914073	T	A	18	46334110	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	2.42296873276467E-4	0.04
18	43914073	T	C	18	46334110	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.02089408651947E-4	0.034
18	43914073	T	G	18	46334110	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.02089408651947E-4	0.034
18	43914074	C	A	18	46334111	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	2.45892698382496E-5	0.002
18	43914074	C	G	18	46334111	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	2.45892698382496E-5	0.002
18	43914074	C	T	18	46334111	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	2.45892698382496E-5	0.002
18	43914075	T	A	18	46334112	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.02089408651947E-4	0.032
18	43914075	T	C	18	46334112	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.02089408651947E-4	0.032
18	43914075	T	G	18	46334112	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.02089408651947E-4	0.032
18	43914076	G	A	18	46334113	n	y	upstream	RNF165	.	.	splicing	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914076	G	C	18	46334113	n	y	upstream	RNF165	.	.	splicing	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914076	G	T	18	46334113	n	y	upstream	RNF165	.	.	splicing	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914077	T	A	18	46334114	n	y	upstream	RNF165	.	.	splicing	ENSG00000141622	.	.	2.68219155180855E-5	0.0
18	43914077	T	C	18	46334114	n	y	upstream	RNF165	.	.	splicing	ENSG00000141622	.	.	2.68219155180855E-5	0.0
18	43914077	T	G	18	46334114	n	y	upstream	RNF165	.	.	splicing	ENSG00000141622	.	.	2.68219155180855E-5	0.0
18	43914078	C	A	18	46334115	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.52211639126661E-5	0.002
18	43914078	C	G	18	46334115	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.7369424100126E-5	0.012
18	43914078	C	T	18	46334115	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.52211639126661E-5	0.002
18	43914079	T	A	18	46334116	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914079	T	C	18	46334116	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914079	T	G	18	46334116	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914080	C	A	18	46334117	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.14925918411906E-5	0.0
18	43914080	C	G	18	46334117	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.14925918411906E-5	0.0
18	43914080	C	T	18	46334117	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.14925918411906E-5	0.0
18	43914081	C	A	18	46334118	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914081	C	G	18	46334118	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914081	C	T	18	46334118	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.99153316237132E-5	0.0
18	43914082	C	A	18	46334119	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.38402952516236E-4	0.028
18	43914082	C	G	18	46334119	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	2.19105523516548E-4	0.026
18	43914082	C	T	18	46334119	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.38402952516236E-4	0.028
18	43914083	C	A	18	46334120	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	2.4631346304159E-5	0.004
18	43914083	C	G	18	46334120	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	2.34821430519508E-5	0.014
18	43914083	C	T	18	46334120	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	2.4631346304159E-5	0.004
18	43914181	C	A	18	46334218	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	9.16905836748777E-4	0.01
18	43914181	C	G	18	46334218	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	6.38118228050303E-4	0.01
18	43914181	C	T	18	46334218	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	9.49551173556722E-4	0.01
18	43914182	G	A	18	46334219	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	6.38118228050303E-4	0.01
18	43914182	G	C	18	46334219	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.4403840789577E-4	0.01
18	43914182	G	T	18	46334219	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.4403840789577E-4	0.01
18	43914183	C	A	18	46334220	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00394569716256602	0.026
18	43914183	C	G	18	46334220	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00394569716256602	0.026
18	43914183	C	T	18	46334220	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00351194318550404	0.026
18	43914184	G	A	18	46334221	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00253378647809942	0.046
18	43914184	G	C	18	46334221	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00253378647809942	0.054
18	43914184	G	T	18	46334221	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00253378647809942	0.038
18	43914185	C	A	18	46334222	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.73156701739785E-4	0.016
18	43914185	C	G	18	46334222	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.73156701739785E-4	0.018
18	43914185	C	T	18	46334222	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.73156701739785E-4	0.024
18	43914186	C	A	18	46334223	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.46226529156369E-4	0.002
18	43914186	C	G	18	46334223	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.15928322694241E-4	0.002
18	43914186	C	T	18	46334223	n	y	upstream	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.46226529156369E-4	0.002
18	43914187	A	C	18	46334224	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	4.0041268776935E-4	0.0
18	43914187	A	G	18	46334224	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	4.0041268776935E-4	0.0
18	43914187	A	T	18	46334224	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	4.0041268776935E-4	0.002
18	43914188	C	A	18	46334225	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.16080636402324E-4	0.0
18	43914188	C	G	18	46334225	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.16080636402324E-4	0.002
18	43914188	C	T	18	46334225	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	1.05309614883202E-4	0.0
18	43914189	A	C	18	46334226	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00173804735908409	0.002
18	43914189	A	G	18	46334226	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00173804735908409	0.002
18	43914189	A	T	18	46334226	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00157237102127493	0.002
18	43914190	A	C	18	46334227	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.34770099764816E-4	0.0
18	43914190	A	G	18	46334227	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	3.34770099764816E-4	0.0
18	43914190	A	T	18	46334227	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	4.0041268776935E-4	0.0
18	43914191	A	C	18	46334228	n	y	UTR5	RNF165	.	.	splicing	ENSG00000141622	.	.	0.00173804735908409	0.002
18	43914191	A	G	18	46334228	n	y	UTR5	RNF165	.	.	splicing	ENSG00000141622	.	.	0.00173804735908409	0.002
18	43914191	A	T	18	46334228	n	y	UTR5	RNF165	.	.	splicing	ENSG00000141622	.	.	0.00157237102127493	0.002
18	43914192	G	A	18	46334229	n	y	UTR5	RNF165	.	.	splicing	ENSG00000141622	.	.	0.00349211905709787	0.028
18	43914192	G	C	18	46334229	n	y	UTR5	RNF165	.	.	splicing	ENSG00000141622	.	.	0.00234954535167801	0.028
18	43914192	G	T	18	46334229	n	y	UTR5	RNF165	.	.	splicing	ENSG00000141622	.	.	0.00403195965499054	0.028
18	43914193	G	A	18	46334230	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00441569569744403	0.084
18	43914193	G	C	18	46334230	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00441569569744403	0.028
18	43914193	G	T	18	46334230	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00441569569744403	0.052
18	43914194	G	A	18	46334231	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00358875693255834	0.026
18	43914194	G	C	18	46334231	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00403195965499054	0.028
18	43914194	G	T	18	46334231	n	y	UTR5	RNF165	.	.	UTR5	ENSG00000141622	.	.	0.00358875693255834	0.028
18	43914296	G	A	18	46334333	y	n	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon1:c.G59A:p.R20K;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G59A:p.R20K;ENSG00000141622:ENST00000587853:exon2:c.G59A:p.R20K;ENSG00000141622:ENST00000590330:exon1:c.G59A:p.R20K;ENSG00000141622:ENST00000269439:exon1:c.G59A:p.R20K;ENSG00000141622:ENST00000586604:exon1:c.G59A:p.R20K;	0.118354617563953	0.316
18	43914296	G	C	18	46334333	y	n	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon1:c.G59C:p.R20T;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G59C:p.R20T;ENSG00000141622:ENST00000587853:exon2:c.G59C:p.R20T;ENSG00000141622:ENST00000590330:exon1:c.G59C:p.R20T;ENSG00000141622:ENST00000269439:exon1:c.G59C:p.R20T;ENSG00000141622:ENST00000586604:exon1:c.G59C:p.R20T;	0.0496836648464314	0.224
18	43914296	G	T	18	46334333	y	n	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon1:c.G59T:p.R20I;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G59T:p.R20I;ENSG00000141622:ENST00000587853:exon2:c.G59T:p.R20I;ENSG00000141622:ENST00000590330:exon1:c.G59T:p.R20I;ENSG00000141622:ENST00000269439:exon1:c.G59T:p.R20I;ENSG00000141622:ENST00000586604:exon1:c.G59T:p.R20I;	0.390171971844407	0.42
18	43914297	A	C	18	46334334	y	n	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon1:c.A60C:p.R20S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.A60C:p.R20S;ENSG00000141622:ENST00000587853:exon2:c.A60C:p.R20S;ENSG00000141622:ENST00000590330:exon1:c.A60C:p.R20S;ENSG00000141622:ENST00000269439:exon1:c.A60C:p.R20S;ENSG00000141622:ENST00000586604:exon1:c.A60C:p.R20S;	0.999621540985032	0.986
18	43914297	A	G	18	46334334	y	n	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon1:c.A60G:p.R20R;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.A60G:p.R20R;ENSG00000141622:ENST00000587853:exon2:c.A60G:p.R20R;ENSG00000141622:ENST00000590330:exon1:c.A60G:p.R20R;ENSG00000141622:ENST00000269439:exon1:c.A60G:p.R20R;ENSG00000141622:ENST00000586604:exon1:c.A60G:p.R20R;	0.999669442028839	0.99
18	43914297	A	T	18	46334334	y	n	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon1:c.A60T:p.R20S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.A60T:p.R20S;ENSG00000141622:ENST00000587853:exon2:c.A60T:p.R20S;ENSG00000141622:ENST00000590330:exon1:c.A60T:p.R20S;ENSG00000141622:ENST00000269439:exon1:c.A60T:p.R20S;ENSG00000141622:ENST00000586604:exon1:c.A60T:p.R20S;	0.999957991306529	0.988
18	43914298	G	A	18	46334335	y	n	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon1:c.G61A:p.G21S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G61A:p.G21S;ENSG00000141622:ENST00000587853:exon2:c.G61A:p.A21T;ENSG00000141622:ENST00000590330:exon1:c.G61A:p.A21T;ENSG00000141622:ENST00000269439:exon1:c.G61A:p.G21S;ENSG00000141622:ENST00000586604:exon1:c.G61A:p.G21R;	0.999997592990838	0.94
18	43914298	G	C	18	46334335	y	n	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon1:c.G61C:p.G21R;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G61C:p.G21R;ENSG00000141622:ENST00000587853:exon2:c.G61C:p.A21P;ENSG00000141622:ENST00000590330:exon1:c.G61C:p.A21P;ENSG00000141622:ENST00000269439:exon1:c.G61C:p.G21R;ENSG00000141622:ENST00000586604:exon1:c.G61C:p.G21R;	0.999993742612449	0.936
18	43914298	G	T	18	46334335	y	n	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon1:c.G61T:p.G21C;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G61T:p.G21C;ENSG00000141622:ENST00000587853:exon2:c.G61T:p.A21S;ENSG00000141622:ENST00000590330:exon1:c.G61T:p.A21S;ENSG00000141622:ENST00000269439:exon1:c.G61T:p.G21C;ENSG00000141622:ENST00000586604:exon1:c.G61T:p.G21W;	0.999984029686347	0.932
18	43914299	G	A	18	46334336	y	n	splicing	RNF165(NM_152470:exon1:c.61+1G>A)	.	.	exonic;splicing	ENSG00000141622;ENSG00000141622(ENST00000587853:exon2:c.61+1G>A;ENST00000590330:exon1:c.61+1G>A;ENST00000269439:exon1:c.61+1G>A;ENST00000586604:exon1:c.61+1G>A)	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G62A:p.G21D;	0.999991783345782	0.946
18	43914299	G	C	18	46334336	y	n	splicing	RNF165(NM_152470:exon1:c.61+1G>C)	.	.	exonic;splicing	ENSG00000141622;ENSG00000141622(ENST00000587853:exon2:c.61+1G>C;ENST00000590330:exon1:c.61+1G>C;ENST00000269439:exon1:c.61+1G>C;ENST00000586604:exon1:c.61+1G>C)	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G62C:p.G21A;	0.999991783345782	0.946
18	43914299	G	T	18	46334336	y	n	splicing	RNF165(NM_152470:exon1:c.61+1G>T)	.	.	exonic;splicing	ENSG00000141622;ENSG00000141622(ENST00000587853:exon2:c.61+1G>T;ENST00000590330:exon1:c.61+1G>T;ENST00000269439:exon1:c.61+1G>T;ENST00000586604:exon1:c.61+1G>T)	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G62T:p.G21V;	0.999991783345782	0.946
18	43914300	T	A	18	46334337	y	n	splicing	RNF165(NM_152470:exon1:c.61+2T>A)	.	.	exonic;splicing	ENSG00000141622;ENSG00000141622(ENST00000587853:exon2:c.61+2T>A;ENST00000590330:exon1:c.61+2T>A;ENST00000269439:exon1:c.61+2T>A;ENST00000586604:exon1:c.61+2T>A)	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T63A:p.G21G;	0.999991790889593	0.936
18	43914300	T	C	18	46334337	y	n	splicing	RNF165(NM_152470:exon1:c.61+2T>C)	.	.	exonic;splicing	ENSG00000141622;ENSG00000141622(ENST00000587853:exon2:c.61+2T>C;ENST00000590330:exon1:c.61+2T>C;ENST00000269439:exon1:c.61+2T>C;ENST00000586604:exon1:c.61+2T>C)	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T63C:p.G21G;	0.975073615944223	0.546
18	43914300	T	G	18	46334337	y	n	splicing	RNF165(NM_152470:exon1:c.61+2T>G)	.	.	exonic;splicing	ENSG00000141622;ENSG00000141622(ENST00000587853:exon2:c.61+2T>G;ENST00000590330:exon1:c.61+2T>G;ENST00000269439:exon1:c.61+2T>G;ENST00000586604:exon1:c.61+2T>G)	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T63G:p.G21G;	0.999991790889593	0.936
18	43914301	A	C	18	46334338	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.A64C:p.I22L;	0.999967870576579	0.974
18	43914301	A	G	18	46334338	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.A64G:p.I22V;	0.999908949122819	0.944
18	43914301	A	T	18	46334338	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.A64T:p.I22F;	0.99997261472161	0.978
18	43914302	T	A	18	46334339	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T65A:p.I22N;	0.00101459539849376	0.124
18	43914302	T	C	18	46334339	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T65C:p.I22T;	0.0131070913491887	0.308
18	43914302	T	G	18	46334339	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T65G:p.I22S;	0.0122384394277351	0.166
18	43914303	C	A	18	46334340	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.C66A:p.I22I;	0.00455284151513883	0.192
18	43914303	C	G	18	46334340	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.C66G:p.I22M;	6.22328266292209E-4	0.054
18	43914303	C	T	18	46334340	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.C66T:p.I22I;	0.0027842260521807	0.098
18	43914304	G	A	18	46334341	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G67A:p.A23T;	0.0101878306826027	0.158
18	43914304	G	C	18	46334341	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G67C:p.A23P;	0.00960473382177744	0.234
18	43914304	G	T	18	46334341	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.G67T:p.A23S;	0.00133852187285585	0.062
18	43914305	C	A	18	46334342	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.C68A:p.A23D;	0.00486372786534625	0.032
18	43914305	C	G	18	46334342	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.C68G:p.A23G;	0.010433116143779	0.04
18	43914305	C	T	18	46334342	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.C68T:p.A23V;	0.00189752574780591	0.02
18	43914306	T	A	18	46334343	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T69A:p.A23A;	0.00750756185633262	0.03
18	43914306	T	C	18	46334343	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T69C:p.A23A;	0.00964886447191094	0.038
18	43914306	T	G	18	46334343	y	n	intronic	RNF165	.	.	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000588679:exon1:c.T69G:p.A23A;	0.00757908885043277	0.036
18	43915839	T	A	18	46335876	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00153232067459605	0.026
18	43915839	T	C	18	46335876	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00218573848948825	0.024
18	43915839	T	G	18	46335876	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00218573848948825	0.024
18	43915840	T	A	18	46335877	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00206215964332001	0.022
18	43915840	T	C	18	46335877	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00209602540928427	0.026
18	43915840	T	G	18	46335877	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00153232067459605	0.026
18	43915841	C	A	18	46335878	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00445644144873983	0.012
18	43915841	C	G	18	46335878	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00337291445926674	0.012
18	43915841	C	T	18	46335878	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00644672809221788	0.028
18	43915842	A	C	18	46335879	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00304863934114629	0.024
18	43915842	A	G	18	46335879	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00304863934114629	0.03
18	43915842	A	T	18	46335879	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00310815403913375	0.048
18	43915843	T	A	18	46335880	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00310815403913375	0.03
18	43915843	T	C	18	46335880	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00304863934114629	0.024
18	43915843	T	G	18	46335880	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00304863934114629	0.026
18	43915844	T	A	18	46335881	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	3.64431530690134E-4	0.016
18	43915844	T	C	18	46335881	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	3.64431530690134E-4	0.016
18	43915844	T	G	18	46335881	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	3.64431530690134E-4	0.014
18	43915845	G	A	18	46335882	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00951067369662903	0.012
18	43915845	G	C	18	46335882	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00951067369662903	0.008
18	43915845	G	T	18	46335882	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00951067369662903	0.014
18	43915846	T	A	18	46335883	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00310815403913375	0.04
18	43915846	T	C	18	46335883	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00310815403913375	0.032
18	43915846	T	G	18	46335883	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00310815403913375	0.034
18	43915847	G	A	18	46335884	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00951067369662903	0.012
18	43915847	G	C	18	46335884	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00951067369662903	0.008
18	43915847	G	T	18	46335884	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00951067369662903	0.016
18	43915848	T	A	18	46335885	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00310815403913375	0.046
18	43915848	T	C	18	46335885	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00310815403913375	0.048
18	43915848	T	G	18	46335885	n	y	intronic	RNF165	.	.	UTR3	ENSG00000141622	.	.	0.00310815403913375	0.042
18	43915849	A	C	18	46335886	n	y	intronic	RNF165	.	.	splicing	ENSG00000141622(ENST00000587853:exon3:c.62-2A>C;ENST00000590330:exon2:c.62-2A>C)	.	.	0.00310815403913375	0.042
18	43915849	A	G	18	46335886	n	y	intronic	RNF165	.	.	splicing	ENSG00000141622(ENST00000587853:exon3:c.62-2A>G;ENST00000590330:exon2:c.62-2A>G)	.	.	0.00310815403913375	0.048
18	43915849	A	T	18	46335886	n	y	intronic	RNF165	.	.	splicing	ENSG00000141622(ENST00000587853:exon3:c.62-2A>T;ENST00000590330:exon2:c.62-2A>T)	.	.	0.00310815403913375	0.046
18	43915850	G	A	18	46335887	n	y	intronic	RNF165	.	.	splicing	ENSG00000141622(ENST00000587853:exon3:c.62-1G>A;ENST00000590330:exon2:c.62-1G>A)	.	.	0.0106228908163107	0.012
18	43915850	G	C	18	46335887	n	y	intronic	RNF165	.	.	splicing	ENSG00000141622(ENST00000587853:exon3:c.62-1G>C;ENST00000590330:exon2:c.62-1G>C)	.	.	0.00951067369662903	0.01
18	43915850	G	T	18	46335887	n	y	intronic	RNF165	.	.	splicing	ENSG00000141622(ENST00000587853:exon3:c.62-1G>T;ENST00000590330:exon2:c.62-1G>T)	.	.	0.00951067369662903	0.014
18	43915851	C	A	18	46335888	n	y	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000587853:exon3:c.C62A:p.A21D;ENSG00000141622:ENST00000590330:exon2:c.C62A:p.A21D;	0.00644672809221788	0.014
18	43915851	C	G	18	46335888	n	y	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000587853:exon3:c.C62G:p.A21G;ENSG00000141622:ENST00000590330:exon2:c.C62G:p.A21G;	0.00644672809221788	0.008
18	43915851	C	T	18	46335888	n	y	intronic	RNF165	.	.	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000587853:exon3:c.C62T:p.A21V;ENSG00000141622:ENST00000590330:exon2:c.C62T:p.A21V;	0.00951067369662903	0.008
18	43915852	T	A	18	46335889	n	y	intronic	RNF165	.	.	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000587853:exon3:c.T63A:p.A21A;ENSG00000141622:ENST00000590330:exon2:c.T63A:p.A21A;	0.00206215964332001	0.03
18	43915852	T	C	18	46335889	n	y	intronic	RNF165	.	.	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000587853:exon3:c.T63C:p.A21A;ENSG00000141622:ENST00000590330:exon2:c.T63C:p.A21A;	0.00206215964332001	0.024
18	43915852	T	G	18	46335889	n	y	intronic	RNF165	.	.	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000587853:exon3:c.T63G:p.A21A;ENSG00000141622:ENST00000590330:exon2:c.T63G:p.A21A;	0.00206215964332001	0.024
18	44013141	C	A	18	46433178	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.47730922295142E-5	0.098
18	44013141	C	G	18	46433178	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.19586190979498E-5	0.096
18	44013141	C	T	18	46433178	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.40130752256752E-5	0.152
18	44013142	T	A	18	46433179	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0615242469081322	0.336
18	44013142	T	C	18	46433179	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0186789783223895	0.126
18	44013142	T	G	18	46433179	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0661818202118693	0.282
18	44013143	T	A	18	46433180	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999552721213374	0.902
18	44013143	T	C	18	46433180	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.29516967263423E-4	0.072
18	44013143	T	G	18	46433180	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.2745619018857E-4	0.132
18	44013144	G	A	18	46433181	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.63302261002205E-4	0.132
18	44013144	G	C	18	46433181	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	8.50219646538014E-5	0.176
18	44013144	G	T	18	46433181	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.09832210691362E-4	0.156
18	44013145	C	A	18	46433182	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00287676013399161	0.102
18	44013145	C	G	18	46433182	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00240145271870162	0.098
18	44013145	C	T	18	46433182	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.07865127973989E-4	0.0
18	44013146	C	A	18	46433183	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00279834993536039	0.096
18	44013146	C	G	18	46433183	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00103303186238067	0.09
18	44013146	C	T	18	46433183	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.64448330987183E-4	0.002
18	44013147	T	A	18	46433184	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0321109412764832	0.13
18	44013147	T	C	18	46433184	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.7508753351648E-4	0.006
18	44013147	T	G	18	46433184	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00989545539846916	0.132
18	44013148	T	A	18	46433185	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00421335386861167	0.14
18	44013148	T	C	18	46433185	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.61787452854631E-4	0.018
18	44013148	T	G	18	46433185	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00143158842829244	0.148
18	44013149	C	A	18	46433186	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	8.4461825836389E-5	0.008
18	44013149	C	G	18	46433186	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	8.67758060179872E-5	0.014
18	44013149	C	T	18	46433186	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.81747024908627E-5	0.014
18	44013150	C	A	18	46433187	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.998816739466063	0.84
18	44013150	C	G	18	46433187	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999668644060632	0.93
18	44013150	C	T	18	46433187	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.945142258258752	0.412
18	44013151	A	C	18	46433188	y	y	splicing	RNF165(NM_152470:exon2:c.62-2A>C)	.	.	splicing	ENSG00000141622(ENST00000269439:exon2:c.62-2A>C)	.	.	0.999993519952936	0.93
18	44013151	A	G	18	46433188	y	y	splicing	RNF165(NM_152470:exon2:c.62-2A>G)	.	.	splicing	ENSG00000141622(ENST00000269439:exon2:c.62-2A>G)	.	.	0.999993519952936	0.93
18	44013151	A	T	18	46433188	y	y	splicing	RNF165(NM_152470:exon2:c.62-2A>T)	.	.	splicing	ENSG00000141622(ENST00000269439:exon2:c.62-2A>T)	.	.	0.999993519952936	0.93
18	44013152	G	A	18	46433189	y	y	splicing	RNF165(NM_152470:exon2:c.62-1G>A)	.	.	splicing	ENSG00000141622(ENST00000269439:exon2:c.62-1G>A)	.	.	0.999988247793601	0.928
18	44013152	G	C	18	46433189	y	y	splicing	RNF165(NM_152470:exon2:c.62-1G>C)	.	.	splicing	ENSG00000141622(ENST00000269439:exon2:c.62-1G>C)	.	.	0.999988247793601	0.928
18	44013152	G	T	18	46433189	y	y	splicing	RNF165(NM_152470:exon2:c.62-1G>T)	.	.	splicing	ENSG00000141622(ENST00000269439:exon2:c.62-1G>T)	.	.	0.999988247793601	0.928
18	44013153	G	A	18	46433190	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon2:c.G62A:p.G21D;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.G62A:p.G21D;	0.99443882005647	0.774
18	44013153	G	C	18	46433190	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon2:c.G62C:p.G21A;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.G62C:p.G21A;	0.999426752840213	0.866
18	44013153	G	T	18	46433190	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon2:c.G62T:p.G21V;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.G62T:p.G21V;	0.998969626854179	0.852
18	44013154	T	A	18	46433191	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon2:c.T63A:p.G21G;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.T63A:p.G21G;	0.46642910592704	0.374
18	44013154	T	C	18	46433191	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon2:c.T63C:p.G21G;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.T63C:p.G21G;	0.351995046615764	0.312
18	44013154	T	G	18	46433191	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon2:c.T63G:p.G21G;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.T63G:p.G21G;	0.374616603822892	0.332
18	44013466	C	A	18	46433503	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon2:c.C375A:p.P125P;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.C375A:p.P125P;ENSG00000141622:ENST00000593230:exon2:c.C174A:p.P58P;	0.0017854161663128	0.122
18	44013466	C	G	18	46433503	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon2:c.C375G:p.P125P;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.C375G:p.P125P;ENSG00000141622:ENST00000593230:exon2:c.C174G:p.P58P;	0.0325420180094388	0.132
18	44013466	C	T	18	46433503	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon2:c.C375T:p.P125P;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.C375T:p.P125P;ENSG00000141622:ENST00000593230:exon2:c.C174T:p.P58P;	0.951820932929176	0.756
18	44013467	A	C	18	46433504	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon2:c.A376C:p.R126R;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.A376C:p.R126R;ENSG00000141622:ENST00000593230:exon2:c.A175C:p.R59R;	0.999118343015455	0.964
18	44013467	A	G	18	46433504	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon2:c.A376G:p.R126G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.A376G:p.R126G;ENSG00000141622:ENST00000593230:exon2:c.A175G:p.R59G;	0.999947112245477	0.982
18	44013467	A	T	18	46433504	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon2:c.A376T:p.R126W;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.A376T:p.R126W;ENSG00000141622:ENST00000593230:exon2:c.A175T:p.R59W;	0.999756345824299	0.98
18	44013468	G	A	18	46433505	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon2:c.G377A:p.R126K;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.G377A:p.R126K;ENSG00000141622:ENST00000593230:exon2:c.G176A:p.R59K;	0.999995607086947	1.0
18	44013468	G	C	18	46433505	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon2:c.G377C:p.R126T;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.G377C:p.R126T;ENSG00000141622:ENST00000593230:exon2:c.G176C:p.R59T;	0.999994610705953	0.988
18	44013468	G	T	18	46433505	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon2:c.G377T:p.R126M;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon2:c.G377T:p.R126M;ENSG00000141622:ENST00000593230:exon2:c.G176T:p.R59M;	0.999992806544101	1.0
18	44013469	G	A	18	46433506	y	y	splicing	RNF165(NM_152470:exon2:c.377+1G>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon2:c.176+1G>A;ENST00000269439:exon2:c.377+1G>A)	.	.	0.999984967332678	0.94
18	44013469	G	C	18	46433506	y	y	splicing	RNF165(NM_152470:exon2:c.377+1G>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon2:c.176+1G>C;ENST00000269439:exon2:c.377+1G>C)	.	.	0.999984967332678	0.94
18	44013469	G	T	18	46433506	y	y	splicing	RNF165(NM_152470:exon2:c.377+1G>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon2:c.176+1G>T;ENST00000269439:exon2:c.377+1G>T)	.	.	0.999984967332678	0.94
18	44013470	T	A	18	46433507	y	y	splicing	RNF165(NM_152470:exon2:c.377+2T>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon2:c.176+2T>A;ENST00000269439:exon2:c.377+2T>A)	.	.	0.999988624979899	0.934
18	44013470	T	C	18	46433507	y	y	splicing	RNF165(NM_152470:exon2:c.377+2T>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon2:c.176+2T>C;ENST00000269439:exon2:c.377+2T>C)	.	.	0.989316615078622	0.636
18	44013470	T	G	18	46433507	y	y	splicing	RNF165(NM_152470:exon2:c.377+2T>G)	.	.	splicing	ENSG00000141622(ENST00000593230:exon2:c.176+2T>G;ENST00000269439:exon2:c.377+2T>G)	.	.	0.999988624979899	0.934
18	44013471	T	A	18	46433508	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.80332797369161E-5	0.022
18	44013471	T	C	18	46433508	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.18654058412354E-4	0.052
18	44013471	T	G	18	46433508	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.57632983200749E-5	0.286
18	44013472	G	A	18	46433509	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.41555079564509E-4	0.18
18	44013472	G	C	18	46433509	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.48180266757965E-5	0.056
18	44013472	G	T	18	46433509	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.91009041417141E-4	0.028
18	44013473	G	A	18	46433510	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999779344093817	0.864
18	44013473	G	C	18	46433510	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999927498789988	0.966
18	44013473	G	T	18	46433510	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999983459470722	0.984
18	44013474	T	A	18	46433511	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.005519939212014	0.218
18	44013474	T	C	18	46433511	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00711380441319411	0.22
18	44013474	T	G	18	46433511	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00332674772143491	0.284
18	44013475	G	A	18	46433512	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.35100383986352E-4	0.03
18	44013475	G	C	18	46433512	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.69196887578969E-5	0.024
18	44013475	G	T	18	46433512	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.59358950708528E-5	0.022
18	44013476	C	A	18	46433513	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.44111361605436E-4	0.022
18	44013476	C	G	18	46433513	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.07393415308331E-4	0.024
18	44013476	C	T	18	46433513	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.8022065777765E-5	0.004
18	44015240	C	A	18	46435277	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0194308651987615	0.084
18	44015240	C	G	18	46435277	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0064349856282048	0.068
18	44015240	C	T	18	46435277	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.10628494899419E-4	0.042
18	44015241	T	A	18	46435278	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.9482939126281	0.62
18	44015241	T	C	18	46435278	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0037274286074868	0.14
18	44015241	T	G	18	46435278	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.916990273095554	0.59
18	44015242	T	A	18	46435279	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0231958621609334	0.314
18	44015242	T	C	18	46435279	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	8.1305055488953E-4	0.102
18	44015242	T	G	18	46435279	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0191100609457931	0.318
18	44015243	C	A	18	46435280	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.112068876179048	0.244
18	44015243	C	G	18	46435280	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.191194561166187	0.314
18	44015243	C	T	18	46435280	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0683010848384892	0.322
18	44015244	T	A	18	46435281	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999929475391828	0.928
18	44015244	T	C	18	46435281	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.17770931608164E-4	0.086
18	44015244	T	G	18	46435281	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00358721593354525	0.244
18	44015245	G	A	18	46435282	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999414727144718	0.976
18	44015245	G	C	18	46435282	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.80011364559848E-5	0.094
18	44015245	G	T	18	46435282	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	7.39839283399344E-5	0.056
18	44015246	G	A	18	46435283	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00410862316195444	0.272
18	44015246	G	C	18	46435283	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.91644658403691E-5	0.044
18	44015246	G	T	18	46435283	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.95976524450431E-5	0.02
18	44015247	T	A	18	46435284	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.988125611759595	0.808
18	44015247	T	C	18	46435284	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.24548097292218E-4	0.092
18	44015247	T	G	18	46435284	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.394961201392878	0.396
18	44015248	G	A	18	46435285	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.88668223659195E-4	0.05
18	44015248	G	C	18	46435285	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.74287892774428E-4	0.004
18	44015248	G	T	18	46435285	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.9253356284858E-4	0.016
18	44015249	C	A	18	46435286	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.91785870738512	0.668
18	44015249	C	G	18	46435286	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999935806096567	0.918
18	44015249	C	T	18	46435286	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00332294804625363	0.198
18	44015250	A	C	18	46435287	y	y	splicing	RNF165(NM_152470:exon3:c.378-2A>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.177-2A>C;ENST00000269439:exon3:c.378-2A>C)	.	.	0.999986741007567	0.938
18	44015250	A	G	18	46435287	y	y	splicing	RNF165(NM_152470:exon3:c.378-2A>G)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.177-2A>G;ENST00000269439:exon3:c.378-2A>G)	.	.	0.999986741007567	0.938
18	44015250	A	T	18	46435287	y	y	splicing	RNF165(NM_152470:exon3:c.378-2A>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.177-2A>T;ENST00000269439:exon3:c.378-2A>T)	.	.	0.999986741007567	0.938
18	44015251	G	A	18	46435288	y	y	splicing	RNF165(NM_152470:exon3:c.378-1G>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.177-1G>A;ENST00000269439:exon3:c.378-1G>A)	.	.	0.999987670894945	0.94
18	44015251	G	C	18	46435288	y	y	splicing	RNF165(NM_152470:exon3:c.378-1G>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.177-1G>C;ENST00000269439:exon3:c.378-1G>C)	.	.	0.999987670894945	0.94
18	44015251	G	T	18	46435288	y	y	splicing	RNF165(NM_152470:exon3:c.378-1G>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.177-1G>T;ENST00000269439:exon3:c.378-1G>T)	.	.	0.999987670894945	0.94
18	44015252	G	A	18	46435289	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon3:c.G378A:p.R126R;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.G378A:p.R126R;ENSG00000141622:ENST00000593230:exon3:c.G177A:p.R59R;	0.999640834952574	0.836
18	44015252	G	C	18	46435289	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.G378C:p.R126S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.G378C:p.R126S;ENSG00000141622:ENST00000593230:exon3:c.G177C:p.R59S;	0.998802136308149	0.934
18	44015252	G	T	18	46435289	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.G378T:p.R126S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.G378T:p.R126S;ENSG00000141622:ENST00000593230:exon3:c.G177T:p.R59S;	0.99903734859837	0.954
18	44015253	C	A	18	46435290	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon3:c.C379A:p.R127R;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.C379A:p.R127R;ENSG00000141622:ENST00000593230:exon3:c.C178A:p.R60R;	0.0691580046394425	0.216
18	44015253	C	G	18	46435290	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.C379G:p.R127G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.C379G:p.R127G;ENSG00000141622:ENST00000593230:exon3:c.C178G:p.R60G;	0.281261555817229	0.47
18	44015253	C	T	18	46435290	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.C379T:p.R127W;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.C379T:p.R127W;ENSG00000141622:ENST00000593230:exon3:c.C178T:p.R60W;	0.612735759400415	0.572
18	44015357	C	A	18	46435394	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.C483A:p.D161E;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.C483A:p.D161E;ENSG00000141622:ENST00000593230:exon3:c.C282A:p.D94E;	0.238517501553612	0.486
18	44015357	C	G	18	46435394	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.C483G:p.D161E;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.C483G:p.D161E;ENSG00000141622:ENST00000593230:exon3:c.C282G:p.D94E;	0.0657107825060521	0.316
18	44015357	C	T	18	46435394	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon3:c.C483T:p.D161D;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.C483T:p.D161D;ENSG00000141622:ENST00000593230:exon3:c.C282T:p.D94D;	0.600253141029576	0.346
18	44015358	T	A	18	46435395	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.T484A:p.W162R;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.T484A:p.W162R;ENSG00000141622:ENST00000593230:exon3:c.T283A:p.W95R;	0.605533473430703	0.6
18	44015358	T	C	18	46435395	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.T484C:p.W162R;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.T484C:p.W162R;ENSG00000141622:ENST00000593230:exon3:c.T283C:p.W95R;	0.912281659159278	0.806
18	44015358	T	G	18	46435395	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.T484G:p.W162G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.T484G:p.W162G;ENSG00000141622:ENST00000593230:exon3:c.T283G:p.W95G;	0.742263106694342	0.764
18	44015359	G	A	18	46435396	y	y	exonic	RNF165	stopgain SNV	RNF165:NM_152470:exon3:c.G485A:p.W162X;	exonic	ENSG00000141622	stopgain SNV	ENSG00000141622:ENST00000269439:exon3:c.G485A:p.W162X;ENSG00000141622:ENST00000593230:exon3:c.G284A:p.W95X;	0.999938949095544	0.996
18	44015359	G	C	18	46435396	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.G485C:p.W162S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.G485C:p.W162S;ENSG00000141622:ENST00000593230:exon3:c.G284C:p.W95S;	0.999985525077478	0.974
18	44015359	G	T	18	46435396	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon3:c.G485T:p.W162L;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon3:c.G485T:p.W162L;ENSG00000141622:ENST00000593230:exon3:c.G284T:p.W95L;	0.99976359022837	0.928
18	44015360	G	A	18	46435397	y	y	splicing	RNF165(NM_152470:exon3:c.485+1G>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.284+1G>A;ENST00000269439:exon3:c.485+1G>A)	.	.	0.999989072007339	0.934
18	44015360	G	C	18	46435397	y	y	splicing	RNF165(NM_152470:exon3:c.485+1G>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.284+1G>C;ENST00000269439:exon3:c.485+1G>C)	.	.	0.999989072007339	0.934
18	44015360	G	T	18	46435397	y	y	splicing	RNF165(NM_152470:exon3:c.485+1G>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.284+1G>T;ENST00000269439:exon3:c.485+1G>T)	.	.	0.999989072007339	0.934
18	44015361	T	A	18	46435398	y	y	splicing	RNF165(NM_152470:exon3:c.485+2T>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.284+2T>A;ENST00000269439:exon3:c.485+2T>A)	.	.	0.999988247793601	0.93
18	44015361	T	C	18	46435398	y	y	splicing	RNF165(NM_152470:exon3:c.485+2T>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.284+2T>C;ENST00000269439:exon3:c.485+2T>C)	.	.	0.99991520749976	0.868
18	44015361	T	G	18	46435398	y	y	splicing	RNF165(NM_152470:exon3:c.485+2T>G)	.	.	splicing	ENSG00000141622(ENST00000593230:exon3:c.284+2T>G;ENST00000269439:exon3:c.485+2T>G)	.	.	0.999988247793601	0.93
18	44015362	G	A	18	46435399	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.23320296268428E-5	0.008
18	44015362	G	C	18	46435399	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.878288994568179	0.648
18	44015362	G	T	18	46435399	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.592513484077432	0.502
18	44015363	A	C	18	46435400	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.996276820265312	0.882
18	44015363	A	G	18	46435400	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.996677832534116	0.912
18	44015363	A	T	18	46435400	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.997706506193891	0.868
18	44015364	G	A	18	46435401	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999614048655275	0.868
18	44015364	G	C	18	46435401	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999931131249076	0.938
18	44015364	G	T	18	46435401	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999651998590659	0.774
18	44015365	T	A	18	46435402	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.996246925139615	0.714
18	44015365	T	C	18	46435402	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.961069493091404	0.666
18	44015365	T	G	18	46435402	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.978709347985407	0.612
18	44015366	C	A	18	46435403	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0010745884427863	0.022
18	44015366	C	G	18	46435403	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.1014245128075E-4	0.012
18	44015366	C	T	18	46435403	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.39392700839895E-4	0.01
18	44015367	T	A	18	46435404	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.52797291082986E-4	0.002
18	44015367	T	C	18	46435404	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.14043113501197E-4	0.006
18	44015367	T	G	18	46435404	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.0588519947248E-5	0.0
18	44027514	G	A	18	46447551	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.65939568346221E-4	0.006
18	44027514	G	C	18	46447551	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.44908234716106E-5	0.0
18	44027514	G	T	18	46447551	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.72740371506876E-5	0.002
18	44027515	T	A	18	46447552	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0338424005533624	0.318
18	44027515	T	C	18	46447552	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00400558792819156	0.07
18	44027515	T	G	18	46447552	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0184513475345166	0.28
18	44027516	T	A	18	46447553	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00618821213565825	0.116
18	44027516	T	C	18	46447553	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.93022937699998E-4	0.078
18	44027516	T	G	18	46447553	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00174367092726954	0.154
18	44027517	T	A	18	46447554	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0462722346051639	0.204
18	44027517	T	C	18	46447554	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.52455485928279E-4	0.006
18	44027517	T	G	18	46447554	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0080671087867126	0.156
18	44027518	C	A	18	46447555	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00625373919739812	0.052
18	44027518	C	G	18	46447555	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00437903459357297	0.166
18	44027518	C	T	18	46447555	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.755235015913E-4	0.0
18	44027519	C	A	18	46447556	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0190935034776881	0.148
18	44027519	C	G	18	46447556	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00900029415396428	0.164
18	44027519	C	T	18	46447556	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.31675133785579E-4	0.158
18	44027520	C	A	18	46447557	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.411385501359279	0.462
18	44027520	C	G	18	46447557	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.499234116717137	0.432
18	44027520	C	T	18	46447557	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00299507662524995	0.062
18	44027521	T	A	18	46447558	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999527843011829	0.83
18	44027521	T	C	18	46447558	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.09701468941955E-4	0.026
18	44027521	T	G	18	46447558	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00405692907578597	0.224
18	44027522	G	A	18	46447559	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00241735694863544	0.022
18	44027522	G	C	18	46447559	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	8.40756974312598E-4	0.034
18	44027522	G	T	18	46447559	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00266397313401068	0.05
18	44027523	C	A	18	46447560	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.99983088268264	0.962
18	44027523	C	G	18	46447560	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999949504530807	0.944
18	44027523	C	T	18	46447560	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.992297502393934	0.458
18	44027524	A	C	18	46447561	y	y	splicing	RNF165(NM_152470:exon4:c.486-2A>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.285-2A>C;ENST00000269439:exon4:c.486-2A>C;ENST00000586604:exon2:c.62-2A>C)	.	.	0.999988247793601	0.93
18	44027524	A	G	18	46447561	y	y	splicing	RNF165(NM_152470:exon4:c.486-2A>G)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.285-2A>G;ENST00000269439:exon4:c.486-2A>G;ENST00000586604:exon2:c.62-2A>G)	.	.	0.999988247793601	0.93
18	44027524	A	T	18	46447561	y	y	splicing	RNF165(NM_152470:exon4:c.486-2A>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.285-2A>T;ENST00000269439:exon4:c.486-2A>T;ENST00000586604:exon2:c.62-2A>T)	.	.	0.999988247793601	0.93
18	44027525	G	A	18	46447562	y	y	splicing	RNF165(NM_152470:exon4:c.486-1G>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.285-1G>A;ENST00000269439:exon4:c.486-1G>A;ENST00000586604:exon2:c.62-1G>A)	.	.	0.999989072007339	0.934
18	44027525	G	C	18	46447562	y	y	splicing	RNF165(NM_152470:exon4:c.486-1G>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.285-1G>C;ENST00000269439:exon4:c.486-1G>C;ENST00000586604:exon2:c.62-1G>C)	.	.	0.999989072007339	0.934
18	44027525	G	T	18	46447562	y	y	splicing	RNF165(NM_152470:exon4:c.486-1G>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.285-1G>T;ENST00000269439:exon4:c.486-1G>T;ENST00000586604:exon2:c.62-1G>T)	.	.	0.999989072007339	0.934
18	44027526	G	A	18	46447563	y	y	exonic	RNF165	stopgain SNV	RNF165:NM_152470:exon4:c.G486A:p.W162X;	exonic	ENSG00000141622	stopgain SNV	ENSG00000141622:ENST00000269439:exon4:c.G486A:p.W162X;ENSG00000141622:ENST00000593230:exon4:c.G285A:p.W95X;	0.999398774071409	0.958
18	44027526	G	C	18	46447563	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.G486C:p.W162C;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.G486C:p.W162C;ENSG00000141622:ENST00000593230:exon4:c.G285C:p.W95C;ENSG00000141622:ENST00000586604:exon2:c.G62C:p.G21A;	0.999746338383672	0.978
18	44027526	G	T	18	46447563	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.G486T:p.W162C;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.G486T:p.W162C;ENSG00000141622:ENST00000593230:exon4:c.G285T:p.W95C;ENSG00000141622:ENST00000586604:exon2:c.G62T:p.G21V;	0.999863724613461	0.99
18	44027527	G	A	18	46447564	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.G487A:p.D163N;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.G487A:p.D163N;ENSG00000141622:ENST00000593230:exon4:c.G286A:p.D96N;	0.979999237496043	0.91
18	44027527	G	C	18	46447564	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.G487C:p.D163H;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.G487C:p.D163H;ENSG00000141622:ENST00000593230:exon4:c.G286C:p.D96H;	0.975051390192538	0.888
18	44027527	G	T	18	46447564	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.G487T:p.D163Y;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.G487T:p.D163Y;ENSG00000141622:ENST00000593230:exon4:c.G286T:p.D96Y;	0.977247720412272	0.878
18	44027653	A	C	18	46447690	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.A613C:p.M205L;RNF165:NM_001256758:exon2:c.A37C:p.M13L;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.A613C:p.M205L;ENSG00000141622:ENST00000593230:exon4:c.A412C:p.M138L;ENSG00000141622:ENST00000543885:exon2:c.A37C:p.M13L;	6.82528683166568E-4	0.02
18	44027653	A	G	18	46447690	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.A613G:p.M205V;RNF165:NM_001256758:exon2:c.A37G:p.M13V;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.A613G:p.M205V;ENSG00000141622:ENST00000593230:exon4:c.A412G:p.M138V;ENSG00000141622:ENST00000543885:exon2:c.A37G:p.M13V;	4.69389385189844E-4	0.06
18	44027653	A	T	18	46447690	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.A613T:p.M205L;RNF165:NM_001256758:exon2:c.A37T:p.M13L;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.A613T:p.M205L;ENSG00000141622:ENST00000593230:exon4:c.A412T:p.M138L;ENSG00000141622:ENST00000543885:exon2:c.A37T:p.M13L;	0.0137343954495313	0.182
18	44027654	T	A	18	46447691	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.T614A:p.M205K;RNF165:NM_001256758:exon2:c.T38A:p.M13K;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.T614A:p.M205K;ENSG00000141622:ENST00000593230:exon4:c.T413A:p.M138K;ENSG00000141622:ENST00000543885:exon2:c.T38A:p.M13K;	0.290141692927569	0.466
18	44027654	T	C	18	46447691	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.T614C:p.M205T;RNF165:NM_001256758:exon2:c.T38C:p.M13T;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.T614C:p.M205T;ENSG00000141622:ENST00000593230:exon4:c.T413C:p.M138T;ENSG00000141622:ENST00000543885:exon2:c.T38C:p.M13T;	0.075918850451847	0.262
18	44027654	T	G	18	46447691	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.T614G:p.M205R;RNF165:NM_001256758:exon2:c.T38G:p.M13R;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.T614G:p.M205R;ENSG00000141622:ENST00000593230:exon4:c.T413G:p.M138R;ENSG00000141622:ENST00000543885:exon2:c.T38G:p.M13R;	0.376372499856423	0.52
18	44027655	G	A	18	46447692	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.G615A:p.M205I;RNF165:NM_001256758:exon2:c.G39A:p.M13I;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.G615A:p.M205I;ENSG00000141622:ENST00000593230:exon4:c.G414A:p.M138I;ENSG00000141622:ENST00000543885:exon2:c.G39A:p.M13I;	0.972703209675321	0.744
18	44027655	G	C	18	46447692	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.G615C:p.M205I;RNF165:NM_001256758:exon2:c.G39C:p.M13I;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.G615C:p.M205I;ENSG00000141622:ENST00000593230:exon4:c.G414C:p.M138I;ENSG00000141622:ENST00000543885:exon2:c.G39C:p.M13I;	0.969633554352779	0.714
18	44027655	G	T	18	46447692	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon4:c.G615T:p.M205I;RNF165:NM_001256758:exon2:c.G39T:p.M13I;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon4:c.G615T:p.M205I;ENSG00000141622:ENST00000593230:exon4:c.G414T:p.M138I;ENSG00000141622:ENST00000543885:exon2:c.G39T:p.M13I;	0.988602103434913	0.82
18	44027656	G	A	18	46447693	y	y	splicing	RNF165(NM_152470:exon4:c.615+1G>A;NM_001256758:exon2:c.39+1G>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.414+1G>A;ENST00000543885:exon2:c.39+1G>A;ENST00000269439:exon4:c.615+1G>A;ENST00000586604:exon2:c.191+1G>A)	.	.	0.999989072007339	0.928
18	44027656	G	C	18	46447693	y	y	splicing	RNF165(NM_152470:exon4:c.615+1G>C;NM_001256758:exon2:c.39+1G>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.414+1G>C;ENST00000543885:exon2:c.39+1G>C;ENST00000269439:exon4:c.615+1G>C;ENST00000586604:exon2:c.191+1G>C)	.	.	0.999989072007339	0.926
18	44027656	G	T	18	46447693	y	y	splicing	RNF165(NM_152470:exon4:c.615+1G>T;NM_001256758:exon2:c.39+1G>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.414+1G>T;ENST00000543885:exon2:c.39+1G>T;ENST00000269439:exon4:c.615+1G>T;ENST00000586604:exon2:c.191+1G>T)	.	.	0.999989072007339	0.926
18	44027657	T	A	18	46447694	y	y	splicing	RNF165(NM_152470:exon4:c.615+2T>A;NM_001256758:exon2:c.39+2T>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.414+2T>A;ENST00000543885:exon2:c.39+2T>A;ENST00000269439:exon4:c.615+2T>A;ENST00000586604:exon2:c.191+2T>A)	.	.	0.999988247793601	0.928
18	44027657	T	C	18	46447694	y	y	splicing	RNF165(NM_152470:exon4:c.615+2T>C;NM_001256758:exon2:c.39+2T>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.414+2T>C;ENST00000543885:exon2:c.39+2T>C;ENST00000269439:exon4:c.615+2T>C;ENST00000586604:exon2:c.191+2T>C)	.	.	0.988438135943233	0.64
18	44027657	T	G	18	46447694	y	y	splicing	RNF165(NM_152470:exon4:c.615+2T>G;NM_001256758:exon2:c.39+2T>G)	.	.	splicing	ENSG00000141622(ENST00000593230:exon4:c.414+2T>G;ENST00000543885:exon2:c.39+2T>G;ENST00000269439:exon4:c.615+2T>G;ENST00000586604:exon2:c.191+2T>G)	.	.	0.999988247793601	0.928
18	44027658	A	C	18	46447695	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.920682925133039	0.674
18	44027658	A	G	18	46447695	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0148255911055795	0.162
18	44027658	A	T	18	46447695	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.79950880911291	0.668
18	44027659	A	C	18	46447696	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.823870585231453	0.618
18	44027659	A	G	18	46447696	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.920294597568714	0.68
18	44027659	A	T	18	46447696	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.870554820623574	0.618
18	44027660	G	A	18	46447697	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999642362897675	0.87
18	44027660	G	C	18	46447697	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999818130338277	0.874
18	44027660	G	T	18	46447697	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999569532359124	0.916
18	44027661	T	A	18	46447698	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0288040495714122	0.23
18	44027661	T	C	18	46447698	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0486830036209994	0.218
18	44027661	T	G	18	46447698	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00749529059680855	0.172
18	44027662	G	A	18	46447699	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	7.82685551969961E-5	0.002
18	44027662	G	C	18	46447699	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	7.64715185626536E-5	0.002
18	44027662	G	T	18	46447699	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	7.82685551969961E-5	0.006
18	44027663	A	C	18	46447700	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.06511985415826E-4	0.012
18	44027663	A	G	18	46447700	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.04191245647156E-4	0.002
18	44027663	A	T	18	46447700	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.69844050747639E-4	0.002
18	44030247	T	A	18	46450284	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.43677528135202	0.496
18	44030247	T	C	18	46450284	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.69196619899087E-4	0.026
18	44030247	T	G	18	46450284	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.214331696483218	0.42
18	44030248	C	A	18	46450285	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.42475548316821E-4	0.034
18	44030248	C	G	18	46450285	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.63275940160336E-4	0.042
18	44030248	C	T	18	46450285	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.6191968782569E-5	0.0
18	44030249	T	A	18	46450286	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0114853883261966	0.236
18	44030249	T	C	18	46450286	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.36405653576647E-4	0.062
18	44030249	T	G	18	46450286	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0388516450345988	0.322
18	44030250	A	C	18	46450287	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.62197168620882E-5	0.004
18	44030250	A	G	18	46450287	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.86935400897045E-5	0.0
18	44030250	A	T	18	46450287	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.25986073325872E-5	0.002
18	44030251	C	A	18	46450288	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00167147677440261	0.058
18	44030251	C	G	18	46450288	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999225695460744	0.984
18	44030251	C	T	18	46450288	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.77087766313834E-6	0.004
18	44030252	C	A	18	46450289	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.550565994327724	0.182
18	44030252	C	G	18	46450289	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.624725958259534	0.274
18	44030252	C	T	18	46450289	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.31048320683599E-4	0.044
18	44030253	C	A	18	46450290	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.27969075931057E-4	0.154
18	44030253	C	G	18	46450290	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.02894201755709E-4	0.238
18	44030253	C	T	18	46450290	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.65433102631296E-5	0.0
18	44030254	A	C	18	46450291	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.49344011687587E-5	0.0
18	44030254	A	G	18	46450291	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.88797007354868E-5	0.0
18	44030254	A	T	18	46450291	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.37971248090931E-5	0.0
18	44030255	A	C	18	46450292	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.4160097106036E-5	0.002
18	44030255	A	G	18	46450292	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.767843725005691	0.904
18	44030255	A	T	18	46450292	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.49433365444121E-4	0.038
18	44030256	C	A	18	46450293	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.998517539744712	0.844
18	44030256	C	G	18	46450293	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999734182420881	0.92
18	44030256	C	T	18	46450293	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0286856716073751	0.172
18	44030257	A	C	18	46450294	y	y	splicing	RNF165(NM_152470:exon5:c.616-2A>C;NM_001256758:exon3:c.40-2A>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon5:c.415-2A>C;ENST00000543885:exon3:c.40-2A>C;ENST00000269439:exon5:c.616-2A>C;ENST00000586604:exon3:c.192-2A>C)	.	.	0.999988247793601	0.922
18	44030257	A	G	18	46450294	y	y	splicing	RNF165(NM_152470:exon5:c.616-2A>G;NM_001256758:exon3:c.40-2A>G)	.	.	splicing	ENSG00000141622(ENST00000593230:exon5:c.415-2A>G;ENST00000543885:exon3:c.40-2A>G;ENST00000269439:exon5:c.616-2A>G;ENST00000586604:exon3:c.192-2A>G)	.	.	0.999988247793601	0.922
18	44030257	A	T	18	46450294	y	y	splicing	RNF165(NM_152470:exon5:c.616-2A>T;NM_001256758:exon3:c.40-2A>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon5:c.415-2A>T;ENST00000543885:exon3:c.40-2A>T;ENST00000269439:exon5:c.616-2A>T;ENST00000586604:exon3:c.192-2A>T)	.	.	0.999988247793601	0.922
18	44030258	G	A	18	46450295	y	y	splicing	RNF165(NM_152470:exon5:c.616-1G>A;NM_001256758:exon3:c.40-1G>A)	.	.	splicing	ENSG00000141622(ENST00000593230:exon5:c.415-1G>A;ENST00000543885:exon3:c.40-1G>A;ENST00000269439:exon5:c.616-1G>A;ENST00000586604:exon3:c.192-1G>A)	.	.	0.999989072007339	0.926
18	44030258	G	C	18	46450295	y	y	splicing	RNF165(NM_152470:exon5:c.616-1G>C;NM_001256758:exon3:c.40-1G>C)	.	.	splicing	ENSG00000141622(ENST00000593230:exon5:c.415-1G>C;ENST00000543885:exon3:c.40-1G>C;ENST00000269439:exon5:c.616-1G>C;ENST00000586604:exon3:c.192-1G>C)	.	.	0.999989072007339	0.926
18	44030258	G	T	18	46450295	y	y	splicing	RNF165(NM_152470:exon5:c.616-1G>T;NM_001256758:exon3:c.40-1G>T)	.	.	splicing	ENSG00000141622(ENST00000593230:exon5:c.415-1G>T;ENST00000543885:exon3:c.40-1G>T;ENST00000269439:exon5:c.616-1G>T;ENST00000586604:exon3:c.192-1G>T)	.	.	0.999989072007339	0.926
18	44030259	G	A	18	46450296	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.G616A:p.V206I;RNF165:NM_001256758:exon3:c.G40A:p.V14I;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.G616A:p.V206I;ENSG00000141622:ENST00000593230:exon5:c.G415A:p.V139I;ENSG00000141622:ENST00000543885:exon3:c.G40A:p.V14I;	0.998169719254275	0.86
18	44030259	G	C	18	46450296	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.G616C:p.V206L;RNF165:NM_001256758:exon3:c.G40C:p.V14L;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.G616C:p.V206L;ENSG00000141622:ENST00000593230:exon5:c.G415C:p.V139L;ENSG00000141622:ENST00000543885:exon3:c.G40C:p.V14L;	0.999855302947672	0.978
18	44030259	G	T	18	46450296	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.G616T:p.V206F;RNF165:NM_001256758:exon3:c.G40T:p.V14F;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.G616T:p.V206F;ENSG00000141622:ENST00000593230:exon5:c.G415T:p.V139F;ENSG00000141622:ENST00000543885:exon3:c.G40T:p.V14F;	0.999886208551102	0.996
18	44030260	T	A	18	46450297	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.T617A:p.V206D;RNF165:NM_001256758:exon3:c.T41A:p.V14D;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.T617A:p.V206D;ENSG00000141622:ENST00000593230:exon5:c.T416A:p.V139D;ENSG00000141622:ENST00000543885:exon3:c.T41A:p.V14D;	0.816191357105843	0.378
18	44030260	T	C	18	46450297	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.T617C:p.V206A;RNF165:NM_001256758:exon3:c.T41C:p.V14A;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.T617C:p.V206A;ENSG00000141622:ENST00000593230:exon5:c.T416C:p.V139A;ENSG00000141622:ENST00000543885:exon3:c.T41C:p.V14A;	0.47009180813629	0.324
18	44030260	T	G	18	46450297	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.T617G:p.V206G;RNF165:NM_001256758:exon3:c.T41G:p.V14G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.T617G:p.V206G;ENSG00000141622:ENST00000593230:exon5:c.T416G:p.V139G;ENSG00000141622:ENST00000543885:exon3:c.T41G:p.V14G;	0.581516732796224	0.388
18	44030361	G	A	18	46450398	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.G718A:p.E240K;RNF165:NM_001256758:exon3:c.G142A:p.E48K;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.G718A:p.E240K;ENSG00000141622:ENST00000543885:exon3:c.G142A:p.E48K;	0.928402122691478	0.728
18	44030361	G	C	18	46450398	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.G718C:p.E240Q;RNF165:NM_001256758:exon3:c.G142C:p.E48Q;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.G718C:p.E240Q;ENSG00000141622:ENST00000543885:exon3:c.G142C:p.E48Q;	0.89162632160553	0.614
18	44030361	G	T	18	46450398	y	y	exonic	RNF165	stopgain SNV	RNF165:NM_152470:exon5:c.G718T:p.E240X;RNF165:NM_001256758:exon3:c.G142T:p.E48X;	exonic	ENSG00000141622	stopgain SNV	ENSG00000141622:ENST00000269439:exon5:c.G718T:p.E240X;ENSG00000141622:ENST00000543885:exon3:c.G142T:p.E48X;	0.945311858551845	0.766
18	44030362	A	C	18	46450399	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.A719C:p.E240A;RNF165:NM_001256758:exon3:c.A143C:p.E48A;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.A719C:p.E240A;ENSG00000141622:ENST00000543885:exon3:c.A143C:p.E48A;	0.996794192655233	0.93
18	44030362	A	G	18	46450399	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.A719G:p.E240G;RNF165:NM_001256758:exon3:c.A143G:p.E48G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.A719G:p.E240G;ENSG00000141622:ENST00000543885:exon3:c.A143G:p.E48G;	0.999480850064711	0.968
18	44030362	A	T	18	46450399	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.A719T:p.E240V;RNF165:NM_001256758:exon3:c.A143T:p.E48V;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.A719T:p.E240V;ENSG00000141622:ENST00000543885:exon3:c.A143T:p.E48V;	0.999800704482072	0.996
18	44030363	G	A	18	46450400	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon5:c.G720A:p.E240E;RNF165:NM_001256758:exon3:c.G144A:p.E48E;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.G720A:p.E240E;ENSG00000141622:ENST00000543885:exon3:c.G144A:p.E48E;	0.999620589511608	0.952
18	44030363	G	C	18	46450400	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.G720C:p.E240D;RNF165:NM_001256758:exon3:c.G144C:p.E48D;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.G720C:p.E240D;ENSG00000141622:ENST00000543885:exon3:c.G144C:p.E48D;	0.999988864406851	0.97
18	44030363	G	T	18	46450400	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon5:c.G720T:p.E240D;RNF165:NM_001256758:exon3:c.G144T:p.E48D;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon5:c.G720T:p.E240D;ENSG00000141622:ENST00000543885:exon3:c.G144T:p.E48D;	0.999936901498094	0.982
18	44030364	G	A	18	46450401	y	y	splicing	RNF165(NM_152470:exon5:c.720+1G>A;NM_001256758:exon3:c.144+1G>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon3:c.144+1G>A;ENST00000269439:exon5:c.720+1G>A;ENST00000586604:exon3:c.296+1G>A)	.	.	0.999988247793601	0.926
18	44030364	G	C	18	46450401	y	y	splicing	RNF165(NM_152470:exon5:c.720+1G>C;NM_001256758:exon3:c.144+1G>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon3:c.144+1G>C;ENST00000269439:exon5:c.720+1G>C;ENST00000586604:exon3:c.296+1G>C)	.	.	0.999988247793601	0.926
18	44030364	G	T	18	46450401	y	y	splicing	RNF165(NM_152470:exon5:c.720+1G>T;NM_001256758:exon3:c.144+1G>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon3:c.144+1G>T;ENST00000269439:exon5:c.720+1G>T;ENST00000586604:exon3:c.296+1G>T)	.	.	0.999988247793601	0.926
18	44030365	T	A	18	46450402	y	y	splicing	RNF165(NM_152470:exon5:c.720+2T>A;NM_001256758:exon3:c.144+2T>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon3:c.144+2T>A;ENST00000269439:exon5:c.720+2T>A;ENST00000586604:exon3:c.296+2T>A)	.	.	0.999992446697775	0.93
18	44030365	T	C	18	46450402	y	y	splicing	RNF165(NM_152470:exon5:c.720+2T>C;NM_001256758:exon3:c.144+2T>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon3:c.144+2T>C;ENST00000269439:exon5:c.720+2T>C;ENST00000586604:exon3:c.296+2T>C)	.	.	0.993224249116124	0.656
18	44030365	T	G	18	46450402	y	y	splicing	RNF165(NM_152470:exon5:c.720+2T>G;NM_001256758:exon3:c.144+2T>G)	.	.	splicing	ENSG00000141622(ENST00000543885:exon3:c.144+2T>G;ENST00000269439:exon5:c.720+2T>G;ENST00000586604:exon3:c.296+2T>G)	.	.	0.999992446697775	0.93
18	44030366	A	C	18	46450403	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.997682602041938	0.822
18	44030366	A	G	18	46450403	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.967754027645927	0.788
18	44030366	A	T	18	46450403	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.998569975429194	0.866
18	44030367	T	A	18	46450404	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.17391761411208E-4	0.074
18	44030367	T	C	18	46450404	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.78957794055283E-5	0.004
18	44030367	T	G	18	46450404	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.28727725737775E-4	0.006
18	44030368	G	A	18	46450405	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.953590299079999	0.548
18	44030368	G	C	18	46450405	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.960170874091494	0.56
18	44030368	G	T	18	46450405	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.618523305492393	0.436
18	44030369	T	A	18	46450406	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.160311390648148	0.306
18	44030369	T	C	18	46450406	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0508758548452134	0.242
18	44030369	T	G	18	46450406	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0420816759734033	0.218
18	44030370	T	A	18	46450407	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.22052569811162E-5	0.0
18	44030370	T	C	18	46450407	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.22052569811162E-5	0.0
18	44030370	T	G	18	46450407	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.22052569811162E-5	0.0
18	44030371	G	A	18	46450408	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.27376509038863E-4	0.008
18	44030371	G	C	18	46450408	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.1359432476215E-4	0.0
18	44030371	G	T	18	46450408	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.27376509038863E-4	0.004
18	44030655	T	A	18	46450692	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.28776817043945E-4	0.07
18	44030655	T	C	18	46450692	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.26620890969901E-5	0.022
18	44030655	T	G	18	46450692	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	7.74143399315496E-5	0.056
18	44030656	T	A	18	46450693	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0150215952682926	0.288
18	44030656	T	C	18	46450693	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00221114360287094	0.048
18	44030656	T	G	18	46450693	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00411880884673733	0.168
18	44030657	C	A	18	46450694	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.219775950865213	0.362
18	44030657	C	G	18	46450694	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.151111861552454	0.372
18	44030657	C	T	18	46450694	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.545213970207839	0.594
18	44030658	T	A	18	46450695	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.588240986531E-4	0.154
18	44030658	T	C	18	46450695	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.30956525351852E-5	0.102
18	44030658	T	G	18	46450695	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.59850979647669E-5	0.152
18	44030659	C	A	18	46450696	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00114549378703096	0.054
18	44030659	C	G	18	46450696	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.08457451676196E-4	0.05
18	44030659	C	T	18	46450696	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.91788754306475E-4	0.018
18	44030660	T	A	18	46450697	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.130453783729629	0.468
18	44030660	T	C	18	46450697	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00772395276497959	0.15
18	44030660	T	G	18	46450697	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0678747554403201	0.38
18	44030661	T	A	18	46450698	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.34379847759457E-4	0.186
18	44030661	T	C	18	46450698	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.7583968678526E-5	0.004
18	44030661	T	G	18	46450698	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00115511806879316	0.114
18	44030662	T	A	18	46450699	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	7.33042129232747E-4	0.194
18	44030662	T	C	18	46450699	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.76832869114731E-4	0.012
18	44030662	T	G	18	46450699	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00173859615355751	0.208
18	44030663	C	A	18	46450700	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.40939237235297E-5	0.0
18	44030663	C	G	18	46450700	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.69340266195446E-5	0.0
18	44030663	C	T	18	46450700	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.69340266195446E-5	0.0
18	44030664	C	A	18	46450701	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.513503120187643	0.422
18	44030664	C	G	18	46450701	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.984149700759424	0.714
18	44030664	C	T	18	46450701	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00176071313724788	0.028
18	44030665	A	C	18	46450702	y	y	splicing	RNF165(NM_152470:exon6:c.721-2A>C;NM_001256758:exon4:c.145-2A>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.145-2A>C;ENST00000269439:exon6:c.721-2A>C;ENST00000586604:exon4:c.297-2A>C)	.	.	0.999988247793601	0.93
18	44030665	A	G	18	46450702	y	y	splicing	RNF165(NM_152470:exon6:c.721-2A>G;NM_001256758:exon4:c.145-2A>G)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.145-2A>G;ENST00000269439:exon6:c.721-2A>G;ENST00000586604:exon4:c.297-2A>G)	.	.	0.999988247793601	0.93
18	44030665	A	T	18	46450702	y	y	splicing	RNF165(NM_152470:exon6:c.721-2A>T;NM_001256758:exon4:c.145-2A>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.145-2A>T;ENST00000269439:exon6:c.721-2A>T;ENST00000586604:exon4:c.297-2A>T)	.	.	0.999988247793601	0.93
18	44030666	G	A	18	46450703	y	y	splicing	RNF165(NM_152470:exon6:c.721-1G>A;NM_001256758:exon4:c.145-1G>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.145-1G>A;ENST00000269439:exon6:c.721-1G>A;ENST00000586604:exon4:c.297-1G>A)	.	.	0.999989072007339	0.934
18	44030666	G	C	18	46450703	y	y	splicing	RNF165(NM_152470:exon6:c.721-1G>C;NM_001256758:exon4:c.145-1G>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.145-1G>C;ENST00000269439:exon6:c.721-1G>C;ENST00000586604:exon4:c.297-1G>C)	.	.	0.999989072007339	0.934
18	44030666	G	T	18	46450703	y	y	splicing	RNF165(NM_152470:exon6:c.721-1G>T;NM_001256758:exon4:c.145-1G>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.145-1G>T;ENST00000269439:exon6:c.721-1G>T;ENST00000586604:exon4:c.297-1G>T)	.	.	0.999989072007339	0.934
18	44030667	G	A	18	46450704	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.G721A:p.E241K;RNF165:NM_001256758:exon4:c.G145A:p.E49K;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.G721A:p.E241K;ENSG00000141622:ENST00000543885:exon4:c.G145A:p.E49K;	0.998617253584478	0.846
18	44030667	G	C	18	46450704	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.G721C:p.E241Q;RNF165:NM_001256758:exon4:c.G145C:p.E49Q;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.G721C:p.E241Q;ENSG00000141622:ENST00000543885:exon4:c.G145C:p.E49Q;	0.999395370696322	0.93
18	44030667	G	T	18	46450704	y	y	exonic	RNF165	stopgain SNV	RNF165:NM_152470:exon6:c.G721T:p.E241X;RNF165:NM_001256758:exon4:c.G145T:p.E49X;	exonic	ENSG00000141622	stopgain SNV	ENSG00000141622:ENST00000269439:exon6:c.G721T:p.E241X;ENSG00000141622:ENST00000543885:exon4:c.G145T:p.E49X;	0.999791212593234	0.936
18	44030668	A	C	18	46450705	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.A722C:p.E241A;RNF165:NM_001256758:exon4:c.A146C:p.E49A;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.A722C:p.E241A;ENSG00000141622:ENST00000543885:exon4:c.A146C:p.E49A;	0.91020194351797	0.716
18	44030668	A	G	18	46450705	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.A722G:p.E241G;RNF165:NM_001256758:exon4:c.A146G:p.E49G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.A722G:p.E241G;ENSG00000141622:ENST00000543885:exon4:c.A146G:p.E49G;	0.942042627605011	0.668
18	44030668	A	T	18	46450705	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.A722T:p.E241V;RNF165:NM_001256758:exon4:c.A146T:p.E49V;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.A722T:p.E241V;ENSG00000141622:ENST00000543885:exon4:c.A146T:p.E49V;	0.821341996729924	0.746
18	44030760	A	C	18	46450797	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.A814C:p.K272Q;RNF165:NM_001256758:exon4:c.A238C:p.K80Q;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.A814C:p.K272Q;ENSG00000141622:ENST00000543885:exon4:c.A238C:p.K80Q;	0.840547593091176	0.676
18	44030760	A	G	18	46450797	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.A814G:p.K272E;RNF165:NM_001256758:exon4:c.A238G:p.K80E;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.A814G:p.K272E;ENSG00000141622:ENST00000543885:exon4:c.A238G:p.K80E;	0.850880884731842	0.534
18	44030760	A	T	18	46450797	y	y	exonic	RNF165	stopgain SNV	RNF165:NM_152470:exon6:c.A814T:p.K272X;RNF165:NM_001256758:exon4:c.A238T:p.K80X;	exonic	ENSG00000141622	stopgain SNV	ENSG00000141622:ENST00000269439:exon6:c.A814T:p.K272X;ENSG00000141622:ENST00000543885:exon4:c.A238T:p.K80X;	0.995983592229687	0.792
18	44030761	A	C	18	46450798	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.A815C:p.K272T;RNF165:NM_001256758:exon4:c.A239C:p.K80T;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.A815C:p.K272T;ENSG00000141622:ENST00000543885:exon4:c.A239C:p.K80T;	0.99902491212887	0.94
18	44030761	A	G	18	46450798	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.A815G:p.K272R;RNF165:NM_001256758:exon4:c.A239G:p.K80R;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.A815G:p.K272R;ENSG00000141622:ENST00000543885:exon4:c.A239G:p.K80R;	0.999796254414562	1.0
18	44030761	A	T	18	46450798	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.A815T:p.K272M;RNF165:NM_001256758:exon4:c.A239T:p.K80M;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.A815T:p.K272M;ENSG00000141622:ENST00000543885:exon4:c.A239T:p.K80M;	0.999743147496295	0.988
18	44030762	G	A	18	46450799	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon6:c.G816A:p.K272K;RNF165:NM_001256758:exon4:c.G240A:p.K80K;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.G816A:p.K272K;ENSG00000141622:ENST00000543885:exon4:c.G240A:p.K80K;	0.999970308035645	0.998
18	44030762	G	C	18	46450799	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.G816C:p.K272N;RNF165:NM_001256758:exon4:c.G240C:p.K80N;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.G816C:p.K272N;ENSG00000141622:ENST00000543885:exon4:c.G240C:p.K80N;	0.999996841290077	1.0
18	44030762	G	T	18	46450799	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon6:c.G816T:p.K272N;RNF165:NM_001256758:exon4:c.G240T:p.K80N;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon6:c.G816T:p.K272N;ENSG00000141622:ENST00000543885:exon4:c.G240T:p.K80N;	0.999979606767518	1.0
18	44030763	G	A	18	46450800	y	y	splicing	RNF165(NM_152470:exon6:c.816+1G>A;NM_001256758:exon4:c.240+1G>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.240+1G>A;ENST00000269439:exon6:c.816+1G>A;ENST00000586604:exon4:c.392+1G>A)	.	.	0.999989072007339	0.934
18	44030763	G	C	18	46450800	y	y	splicing	RNF165(NM_152470:exon6:c.816+1G>C;NM_001256758:exon4:c.240+1G>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.240+1G>C;ENST00000269439:exon6:c.816+1G>C;ENST00000586604:exon4:c.392+1G>C)	.	.	0.999989072007339	0.934
18	44030763	G	T	18	46450800	y	y	splicing	RNF165(NM_152470:exon6:c.816+1G>T;NM_001256758:exon4:c.240+1G>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.240+1G>T;ENST00000269439:exon6:c.816+1G>T;ENST00000586604:exon4:c.392+1G>T)	.	.	0.999989072007339	0.934
18	44030764	T	A	18	46450801	y	y	splicing	RNF165(NM_152470:exon6:c.816+2T>A;NM_001256758:exon4:c.240+2T>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.240+2T>A;ENST00000269439:exon6:c.816+2T>A;ENST00000586604:exon4:c.392+2T>A)	.	.	0.999988247793601	0.93
18	44030764	T	C	18	46450801	y	y	splicing	RNF165(NM_152470:exon6:c.816+2T>C;NM_001256758:exon4:c.240+2T>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.240+2T>C;ENST00000269439:exon6:c.816+2T>C;ENST00000586604:exon4:c.392+2T>C)	.	.	0.999934634224869	0.872
18	44030764	T	G	18	46450801	y	y	splicing	RNF165(NM_152470:exon6:c.816+2T>G;NM_001256758:exon4:c.240+2T>G)	.	.	splicing	ENSG00000141622(ENST00000543885:exon4:c.240+2T>G;ENST00000269439:exon6:c.816+2T>G;ENST00000586604:exon4:c.392+2T>G)	.	.	0.999988247793601	0.93
18	44030765	G	A	18	46450802	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	7.57338290585484E-5	0.026
18	44030765	G	C	18	46450802	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.100583403875732	0.438
18	44030765	G	T	18	46450802	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00340619776120035	0.272
18	44030766	G	A	18	46450803	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.69314064480894E-4	0.056
18	44030766	G	C	18	46450803	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.53043791641679E-4	0.126
18	44030766	G	T	18	46450803	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00164812516995323	0.068
18	44030767	G	A	18	46450804	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999654970847662	0.942
18	44030767	G	C	18	46450804	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999872596878742	0.994
18	44030767	G	T	18	46450804	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999606158881306	0.842
18	44030768	T	A	18	46450805	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.236898197188357	0.444
18	44030768	T	C	18	46450805	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.200707544189939	0.24
18	44030768	T	G	18	46450805	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.325751987100747	0.444
18	44030769	C	A	18	46450806	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00191499079409701	0.092
18	44030769	C	G	18	46450806	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00119505553523581	0.11
18	44030769	C	T	18	46450806	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.97673135386164E-4	0.114
18	44030770	T	A	18	46450807	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.93940376938207E-4	0.012
18	44030770	T	C	18	46450807	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.88070114623564E-4	0.01
18	44030770	T	G	18	46450807	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.98778265586641E-5	0.006
18	44035925	T	A	18	46455962	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999989038646957	0.978
18	44035925	T	C	18	46455962	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0474400598725545	0.316
18	44035925	T	G	18	46455962	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.662386942331774	0.502
18	44035926	G	A	18	46455963	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0771942455373495	0.138
18	44035926	G	C	18	46455963	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.143298463570251	0.322
18	44035926	G	T	18	46455963	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.111162096938567	0.338
18	44035927	C	A	18	46455964	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0153969383860602	0.148
18	44035927	C	G	18	46455964	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00705279128886064	0.14
18	44035927	C	T	18	46455964	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00325805902136072	0.27
18	44035928	T	A	18	46455965	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.96503100593699E-4	0.148
18	44035928	T	C	18	46455965	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	8.14221025303525E-6	0.084
18	44035928	T	G	18	46455965	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.70673920349621E-4	0.132
18	44035929	T	A	18	46455966	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.25271539411842	0.4
18	44035929	T	C	18	46455966	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0415455627070534	0.46
18	44035929	T	G	18	46455966	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0212098837270921	0.316
18	44035930	C	A	18	46455967	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0474833914426902	0.148
18	44035930	C	G	18	46455967	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00938276914494255	0.124
18	44035930	C	T	18	46455967	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0018479731752862	0.108
18	44035931	T	A	18	46455968	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0113600788831165	0.108
18	44035931	T	C	18	46455968	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	7.60240803562381E-5	0.072
18	44035931	T	G	18	46455968	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.025643559171664	0.152
18	44035932	C	A	18	46455969	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0047739949278102	0.168
18	44035932	C	G	18	46455969	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00843441530064692	0.174
18	44035932	C	T	18	46455969	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.00741644118081E-5	0.006
18	44035933	A	C	18	46455970	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.32472969443078E-4	0.012
18	44035933	A	G	18	46455970	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.006368124783E-4	0.006
18	44035933	A	T	18	46455970	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.20620342063601E-4	0.022
18	44035934	T	A	18	46455971	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00473310473975623	0.24
18	44035934	T	C	18	46455971	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.64794099013993E-5	0.044
18	44035934	T	G	18	46455971	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.978449461641475	0.698
18	44035935	A	C	18	46455972	y	y	splicing	RNF165(NM_152470:exon7:c.817-2A>C;NM_001256758:exon5:c.241-2A>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.241-2A>C;ENST00000269439:exon7:c.817-2A>C;ENST00000586604:exon5:c.393-2A>C)	.	.	0.999993672935256	0.93
18	44035935	A	G	18	46455972	y	y	splicing	RNF165(NM_152470:exon7:c.817-2A>G;NM_001256758:exon5:c.241-2A>G)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.241-2A>G;ENST00000269439:exon7:c.817-2A>G;ENST00000586604:exon5:c.393-2A>G)	.	.	0.999993672935256	0.93
18	44035935	A	T	18	46455972	y	y	splicing	RNF165(NM_152470:exon7:c.817-2A>T;NM_001256758:exon5:c.241-2A>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.241-2A>T;ENST00000269439:exon7:c.817-2A>T;ENST00000586604:exon5:c.393-2A>T)	.	.	0.999993672935256	0.93
18	44035936	G	A	18	46455973	y	y	splicing	RNF165(NM_152470:exon7:c.817-1G>A;NM_001256758:exon5:c.241-1G>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.241-1G>A;ENST00000269439:exon7:c.817-1G>A;ENST00000586604:exon5:c.393-1G>A)	.	.	0.999992446697775	0.934
18	44035936	G	C	18	46455973	y	y	splicing	RNF165(NM_152470:exon7:c.817-1G>C;NM_001256758:exon5:c.241-1G>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.241-1G>C;ENST00000269439:exon7:c.817-1G>C;ENST00000586604:exon5:c.393-1G>C)	.	.	0.999992446697775	0.934
18	44035936	G	T	18	46455973	y	y	splicing	RNF165(NM_152470:exon7:c.817-1G>T;NM_001256758:exon5:c.241-1G>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.241-1G>T;ENST00000269439:exon7:c.817-1G>T;ENST00000586604:exon5:c.393-1G>T)	.	.	0.999992446697775	0.934
18	44035937	C	A	18	46455974	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon7:c.C817A:p.R273R;RNF165:NM_001256758:exon5:c.C241A:p.R81R;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.C817A:p.R273R;ENSG00000141622:ENST00000543885:exon5:c.C241A:p.R81R;	0.00169162838415801	0.018
18	44035937	C	G	18	46455974	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon7:c.C817G:p.R273G;RNF165:NM_001256758:exon5:c.C241G:p.R81G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.C817G:p.R273G;ENSG00000141622:ENST00000543885:exon5:c.C241G:p.R81G;	0.861886065467042	0.522
18	44035937	C	T	18	46455974	y	y	exonic	RNF165	stopgain SNV	RNF165:NM_152470:exon7:c.C817T:p.R273X;RNF165:NM_001256758:exon5:c.C241T:p.R81X;	exonic	ENSG00000141622	stopgain SNV	ENSG00000141622:ENST00000269439:exon7:c.C817T:p.R273X;ENSG00000141622:ENST00000543885:exon5:c.C241T:p.R81X;	0.97342599901324	0.81
18	44035938	G	A	18	46455975	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon7:c.G818A:p.R273Q;RNF165:NM_001256758:exon5:c.G242A:p.R81Q;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G818A:p.R273Q;ENSG00000141622:ENST00000543885:exon5:c.G242A:p.R81Q;	0.836958199590099	0.522
18	44035938	G	C	18	46455975	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon7:c.G818C:p.R273P;RNF165:NM_001256758:exon5:c.G242C:p.R81P;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G818C:p.R273P;ENSG00000141622:ENST00000543885:exon5:c.G242C:p.R81P;	0.849891715709484	0.424
18	44035938	G	T	18	46455975	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon7:c.G818T:p.R273L;RNF165:NM_001256758:exon5:c.G242T:p.R81L;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G818T:p.R273L;ENSG00000141622:ENST00000543885:exon5:c.G242T:p.R81L;	0.818201228588355	0.606
18	44036041	G	A	18	46456078	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon7:c.G921A:p.V307V;RNF165:NM_001256758:exon5:c.G345A:p.V115V;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G921A:p.V307V;ENSG00000141622:ENST00000543885:exon5:c.G345A:p.V115V;	1.73716638247429E-4	0.0
18	44036041	G	C	18	46456078	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon7:c.G921C:p.V307V;RNF165:NM_001256758:exon5:c.G345C:p.V115V;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G921C:p.V307V;ENSG00000141622:ENST00000543885:exon5:c.G345C:p.V115V;	1.93573308873612E-4	0.0
18	44036041	G	T	18	46456078	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon7:c.G921T:p.V307V;RNF165:NM_001256758:exon5:c.G345T:p.V115V;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G921T:p.V307V;ENSG00000141622:ENST00000543885:exon5:c.G345T:p.V115V;	0.0104155262018232	0.208
18	44036042	A	C	18	46456079	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon7:c.A922C:p.R308R;RNF165:NM_001256758:exon5:c.A346C:p.R116R;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.A922C:p.R308R;ENSG00000141622:ENST00000543885:exon5:c.A346C:p.R116R;	0.936878577603836	0.772
18	44036042	A	G	18	46456079	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon7:c.A922G:p.R308G;RNF165:NM_001256758:exon5:c.A346G:p.R116G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.A922G:p.R308G;ENSG00000141622:ENST00000543885:exon5:c.A346G:p.R116G;	0.999673721743119	0.966
18	44036042	A	T	18	46456079	y	y	exonic	RNF165	stopgain SNV	RNF165:NM_152470:exon7:c.A922T:p.R308X;RNF165:NM_001256758:exon5:c.A346T:p.R116X;	exonic	ENSG00000141622	stopgain SNV	ENSG00000141622:ENST00000269439:exon7:c.A922T:p.R308X;ENSG00000141622:ENST00000543885:exon5:c.A346T:p.R116X;	0.999776727291875	0.95
18	44036043	G	A	18	46456080	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon7:c.G923A:p.R308K;RNF165:NM_001256758:exon5:c.G347A:p.R116K;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G923A:p.R308K;ENSG00000141622:ENST00000543885:exon5:c.G347A:p.R116K;	0.999993548876084	1.0
18	44036043	G	C	18	46456080	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon7:c.G923C:p.R308T;RNF165:NM_001256758:exon5:c.G347C:p.R116T;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G923C:p.R308T;ENSG00000141622:ENST00000543885:exon5:c.G347C:p.R116T;	0.999995635665666	1.0
18	44036043	G	T	18	46456080	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon7:c.G923T:p.R308I;RNF165:NM_001256758:exon5:c.G347T:p.R116I;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon7:c.G923T:p.R308I;ENSG00000141622:ENST00000543885:exon5:c.G347T:p.R116I;	0.99998986901139	0.992
18	44036044	G	A	18	46456081	y	y	splicing	RNF165(NM_152470:exon7:c.923+1G>A;NM_001256758:exon5:c.347+1G>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.347+1G>A;ENST00000269439:exon7:c.923+1G>A;ENST00000586604:exon5:c.499+1G>A)	.	.	0.999988247793601	0.914
18	44036044	G	C	18	46456081	y	y	splicing	RNF165(NM_152470:exon7:c.923+1G>C;NM_001256758:exon5:c.347+1G>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.347+1G>C;ENST00000269439:exon7:c.923+1G>C;ENST00000586604:exon5:c.499+1G>C)	.	.	0.999988247793601	0.914
18	44036044	G	T	18	46456081	y	y	splicing	RNF165(NM_152470:exon7:c.923+1G>T;NM_001256758:exon5:c.347+1G>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.347+1G>T;ENST00000269439:exon7:c.923+1G>T;ENST00000586604:exon5:c.499+1G>T)	.	.	0.999988247793601	0.914
18	44036045	T	A	18	46456082	y	y	splicing	RNF165(NM_152470:exon7:c.923+2T>A;NM_001256758:exon5:c.347+2T>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.347+2T>A;ENST00000269439:exon7:c.923+2T>A;ENST00000586604:exon5:c.499+2T>A)	.	.	0.999993519952936	0.906
18	44036045	T	C	18	46456082	y	y	splicing	RNF165(NM_152470:exon7:c.923+2T>C;NM_001256758:exon5:c.347+2T>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.347+2T>C;ENST00000269439:exon7:c.923+2T>C;ENST00000586604:exon5:c.499+2T>C)	.	.	0.989490785358834	0.598
18	44036045	T	G	18	46456082	y	y	splicing	RNF165(NM_152470:exon7:c.923+2T>G;NM_001256758:exon5:c.347+2T>G)	.	.	splicing	ENSG00000141622(ENST00000543885:exon5:c.347+2T>G;ENST00000269439:exon7:c.923+2T>G;ENST00000586604:exon5:c.499+2T>G)	.	.	0.999993519952936	0.906
18	44036046	A	C	18	46456083	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.993568715397152	0.884
18	44036046	A	G	18	46456083	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.887881390801093	0.574
18	44036046	A	T	18	46456083	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.981482232588756	0.854
18	44036047	G	A	18	46456084	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.81687678963161E-5	0.05
18	44036047	G	C	18	46456084	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.24111680889084E-5	0.02
18	44036047	G	T	18	46456084	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.18519725648678E-5	0.0
18	44036048	G	A	18	46456085	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999687292165833	0.882
18	44036048	G	C	18	46456085	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999851766567126	0.938
18	44036048	G	T	18	46456085	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.999954460093814	0.91
18	44036049	A	C	18	46456086	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.2519951220749E-5	0.012
18	44036049	A	G	18	46456086	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.86399691121329E-5	0.004
18	44036049	A	T	18	46456086	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.13914030912462E-5	0.0
18	44036050	G	A	18	46456087	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.64257786288581E-5	0.002
18	44036050	G	C	18	46456087	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.01174165683835E-5	0.0
18	44036050	G	T	18	46456087	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.66788996267205E-5	0.0
18	44036051	A	C	18	46456088	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.04646248335252E-5	0.0
18	44036051	A	G	18	46456088	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.28882565731292E-5	0.002
18	44036051	A	T	18	46456088	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.04860152160254E-5	0.0
18	44036470	C	A	18	46456507	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.28283286476508E-4	0.026
18	44036470	C	G	18	46456507	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.96118089579284E-4	0.01
18	44036470	C	T	18	46456507	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.21670231868576E-5	0.0
18	44036471	C	A	18	46456508	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00119219608807911	0.03
18	44036471	C	G	18	46456508	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.09222732757912E-5	0.008
18	44036471	C	T	18	46456508	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	6.25240370314872E-5	0.0
18	44036472	T	A	18	46456509	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	9.18016851668544E-4	0.062
18	44036472	T	C	18	46456509	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.9029305456393E-5	0.0
18	44036472	T	G	18	46456509	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	4.33675606375934E-4	0.048
18	44036473	C	A	18	46456510	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.9869063148236E-4	0.024
18	44036473	C	G	18	46456510	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	2.47582457816017E-4	0.014
18	44036473	C	T	18	46456510	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.7409621592869E-5	0.004
18	44036474	T	A	18	46456511	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.3847289206523E-4	0.056
18	44036474	T	C	18	46456511	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.40802295667238E-6	0.002
18	44036474	T	G	18	46456511	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.67721719220517E-4	0.028
18	44036475	C	A	18	46456512	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.17469286466477E-4	0.05
18	44036475	C	G	18	46456512	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	3.79087525168988E-4	0.076
18	44036475	C	T	18	46456512	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.87553088589287E-5	0.0
18	44036476	T	A	18	46456513	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00495973206959233	0.092
18	44036476	T	C	18	46456513	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.281127570751E-4	0.02
18	44036476	T	G	18	46456513	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0022852777982779	0.102
18	44036477	T	A	18	46456514	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0179729429780892	0.288
18	44036477	T	C	18	46456514	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.00723336477093801	0.1
18	44036477	T	G	18	46456514	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0168599167351255	0.318
18	44036478	C	A	18	46456515	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	5.5614711825469E-5	0.014
18	44036478	C	G	18	46456515	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.00392256061E-4	0.014
18	44036478	C	T	18	46456515	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	1.32003223403655E-4	0.014
18	44036479	C	A	18	46456516	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.98770080008425	0.75
18	44036479	C	G	18	46456516	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.986283778616457	0.888
18	44036479	C	T	18	46456516	y	y	intronic	RNF165	.	.	intronic	ENSG00000141622	.	.	0.0755396316098549	0.27
18	44036480	A	C	18	46456517	y	y	splicing	RNF165(NM_152470:exon8:c.924-2A>C;NM_001256758:exon6:c.348-2A>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon6:c.348-2A>C;ENST00000269439:exon8:c.924-2A>C;ENST00000586604:exon6:c.500-2A>C)	.	.	0.999993672935256	0.928
18	44036480	A	G	18	46456517	y	y	splicing	RNF165(NM_152470:exon8:c.924-2A>G;NM_001256758:exon6:c.348-2A>G)	.	.	splicing	ENSG00000141622(ENST00000543885:exon6:c.348-2A>G;ENST00000269439:exon8:c.924-2A>G;ENST00000586604:exon6:c.500-2A>G)	.	.	0.999993672935256	0.928
18	44036480	A	T	18	46456517	y	y	splicing	RNF165(NM_152470:exon8:c.924-2A>T;NM_001256758:exon6:c.348-2A>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon6:c.348-2A>T;ENST00000269439:exon8:c.924-2A>T;ENST00000586604:exon6:c.500-2A>T)	.	.	0.999993672935256	0.928
18	44036481	G	A	18	46456518	y	y	splicing	RNF165(NM_152470:exon8:c.924-1G>A;NM_001256758:exon6:c.348-1G>A)	.	.	splicing	ENSG00000141622(ENST00000543885:exon6:c.348-1G>A;ENST00000269439:exon8:c.924-1G>A;ENST00000586604:exon6:c.500-1G>A)	.	.	0.999992446697775	0.93
18	44036481	G	C	18	46456518	y	y	splicing	RNF165(NM_152470:exon8:c.924-1G>C;NM_001256758:exon6:c.348-1G>C)	.	.	splicing	ENSG00000141622(ENST00000543885:exon6:c.348-1G>C;ENST00000269439:exon8:c.924-1G>C;ENST00000586604:exon6:c.500-1G>C)	.	.	0.999992446697775	0.93
18	44036481	G	T	18	46456518	y	y	splicing	RNF165(NM_152470:exon8:c.924-1G>T;NM_001256758:exon6:c.348-1G>T)	.	.	splicing	ENSG00000141622(ENST00000543885:exon6:c.348-1G>T;ENST00000269439:exon8:c.924-1G>T;ENST00000586604:exon6:c.500-1G>T)	.	.	0.999992446697775	0.93
18	44036482	A	C	18	46456519	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon8:c.A924C:p.R308S;RNF165:NM_001256758:exon6:c.A348C:p.R116S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon8:c.A924C:p.R308S;ENSG00000141622:ENST00000543885:exon6:c.A348C:p.R116S;	1.17653528498309E-4	0.116
18	44036482	A	G	18	46456519	y	y	exonic	RNF165	synonymous SNV	RNF165:NM_152470:exon8:c.A924G:p.R308R;RNF165:NM_001256758:exon6:c.A348G:p.R116R;	exonic	ENSG00000141622	synonymous SNV	ENSG00000141622:ENST00000269439:exon8:c.A924G:p.R308R;ENSG00000141622:ENST00000543885:exon6:c.A348G:p.R116R;	7.75887829933285E-5	0.006
18	44036482	A	T	18	46456519	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon8:c.A924T:p.R308S;RNF165:NM_001256758:exon6:c.A348T:p.R116S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon8:c.A924T:p.R308S;ENSG00000141622:ENST00000543885:exon6:c.A348T:p.R116S;	1.50066854415535E-4	0.062
18	44036483	C	A	18	46456520	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon8:c.C925A:p.R309S;RNF165:NM_001256758:exon6:c.C349A:p.R117S;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon8:c.C925A:p.R309S;ENSG00000141622:ENST00000543885:exon6:c.C349A:p.R117S;	0.79858628460856	0.626
18	44036483	C	G	18	46456520	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon8:c.C925G:p.R309G;RNF165:NM_001256758:exon6:c.C349G:p.R117G;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon8:c.C925G:p.R309G;ENSG00000141622:ENST00000543885:exon6:c.C349G:p.R117G;	0.322928730825834	0.576
18	44036483	C	T	18	46456520	y	y	exonic	RNF165	nonsynonymous SNV	RNF165:NM_152470:exon8:c.C925T:p.R309C;RNF165:NM_001256758:exon6:c.C349T:p.R117C;	exonic	ENSG00000141622	nonsynonymous SNV	ENSG00000141622:ENST00000269439:exon8:c.C925T:p.R309C;ENSG00000141622:ENST00000543885:exon6:c.C349T:p.R117C;	0.81395053139752	0.626
18	44057182	T	A	18	46477219	y	y	exonic	LOXHD1	stoploss SNV	LOXHD1:NM_001173129:exon10:c.A1373T:p.X458L;	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000398705:exon10:c.A1373T:p.X458L;ENSG00000167210:ENST00000579038:exon22:c.A3035T:p.X1012L;	7.01315188657279E-5	0.0
18	44057182	T	C	18	46477219	y	y	exonic	LOXHD1	stoploss SNV	LOXHD1:NM_001173129:exon10:c.A1373G:p.X458W;	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000398705:exon10:c.A1373G:p.X458W;ENSG00000167210:ENST00000579038:exon22:c.A3035G:p.X1012W;	6.35428655471156E-5	0.014
18	44057182	T	G	18	46477219	y	y	exonic	LOXHD1	stoploss SNV	LOXHD1:NM_001173129:exon10:c.A1373C:p.X458S;	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000398705:exon10:c.A1373C:p.X458S;ENSG00000167210:ENST00000579038:exon22:c.A3035C:p.X1012S;	6.35428655471156E-5	0.002
18	44057183	A	C	18	46477220	y	y	exonic	LOXHD1	stoploss SNV	LOXHD1:NM_001173129:exon10:c.T1372G:p.X458E;	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000398705:exon10:c.T1372G:p.X458E;ENSG00000167210:ENST00000579038:exon22:c.T3034G:p.X1012E;	5.05808194911997E-5	0.004
18	44057183	A	G	18	46477220	y	y	exonic	LOXHD1	stoploss SNV	LOXHD1:NM_001173129:exon10:c.T1372C:p.X458Q;	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000398705:exon10:c.T1372C:p.X458Q;ENSG00000167210:ENST00000579038:exon22:c.T3034C:p.X1012Q;	5.05808194911997E-5	0.004
18	44057183	A	T	18	46477220	y	y	exonic	LOXHD1	stoploss SNV	LOXHD1:NM_001173129:exon10:c.T1372A:p.X458K;	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000398705:exon10:c.T1372A:p.X458K;ENSG00000167210:ENST00000579038:exon22:c.T3034A:p.X1012K;	5.05808194911997E-5	0.004
18	44057184	C	A	18	46477221	y	y	splicing	LOXHD1(NM_001173129:exon11:c.1372-1G>T;NM_001145472:exon25:c.3308-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon25:c.3308-1G>T;ENST00000398722:exon36:c.5807-1G>T;ENST00000579038:exon23:c.3034-1G>T;ENST00000398705:exon11:c.1372-1G>T)	.	.	8.62415088955731E-5	0.018
18	44057184	C	G	18	46477221	y	y	splicing	LOXHD1(NM_001173129:exon11:c.1372-1G>C;NM_001145472:exon25:c.3308-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon25:c.3308-1G>C;ENST00000398722:exon36:c.5807-1G>C;ENST00000579038:exon23:c.3034-1G>C;ENST00000398705:exon11:c.1372-1G>C)	.	.	6.00043844550976E-5	0.018
18	44057184	C	T	18	46477221	y	y	splicing	LOXHD1(NM_001173129:exon11:c.1372-1G>A;NM_001145472:exon25:c.3308-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon25:c.3308-1G>A;ENST00000398722:exon36:c.5807-1G>A;ENST00000579038:exon23:c.3034-1G>A;ENST00000398705:exon11:c.1372-1G>A)	.	.	1.01778106764093E-4	0.018
18	44057185	T	A	18	46477222	y	y	splicing	LOXHD1(NM_001173129:exon11:c.1372-2A>T;NM_001145472:exon25:c.3308-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon25:c.3308-2A>T;ENST00000398722:exon36:c.5807-2A>T;ENST00000579038:exon23:c.3034-2A>T;ENST00000398705:exon11:c.1372-2A>T)	.	.	1.10394876749701E-4	0.002
18	44057185	T	C	18	46477222	y	y	splicing	LOXHD1(NM_001173129:exon11:c.1372-2A>G;NM_001145472:exon25:c.3308-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon25:c.3308-2A>G;ENST00000398722:exon36:c.5807-2A>G;ENST00000579038:exon23:c.3034-2A>G;ENST00000398705:exon11:c.1372-2A>G)	.	.	5.32341439655945E-5	0.002
18	44057185	T	G	18	46477222	y	y	splicing	LOXHD1(NM_001173129:exon11:c.1372-2A>C;NM_001145472:exon25:c.3308-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon25:c.3308-2A>C;ENST00000398722:exon36:c.5807-2A>C;ENST00000579038:exon23:c.3034-2A>C;ENST00000398705:exon11:c.1372-2A>C)	.	.	5.32341439655945E-5	0.002
18	44057186	G	A	18	46477223	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.00675832680685E-4	0.0
18	44057186	G	C	18	46477223	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.32510510707312E-5	0.0
18	44057186	G	T	18	46477223	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.84368244779743E-5	0.002
18	44057187	T	A	18	46477224	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.2886448328189E-5	0.0
18	44057187	T	C	18	46477224	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.39765988491657E-5	0.014
18	44057187	T	G	18	46477224	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.2886448328189E-5	0.01
18	44057188	T	A	18	46477225	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.15941453541388E-5	0.002
18	44057188	T	C	18	46477225	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.15941453541388E-5	0.002
18	44057188	T	G	18	46477225	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.15941453541388E-5	0.002
18	44057189	A	C	18	46477226	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.09774573448081E-5	0.004
18	44057189	A	G	18	46477226	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.09774573448081E-5	0.004
18	44057189	A	T	18	46477226	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.44782069694124E-5	0.002
18	44057190	T	A	18	46477227	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.15941453541388E-5	0.004
18	44057190	T	C	18	46477227	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.89925739660516E-5	0.006
18	44057190	T	G	18	46477227	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.89925739660516E-5	0.006
18	44057191	T	A	18	46477228	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.48958040212133E-5	0.0
18	44057191	T	C	18	46477228	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.91991176785681E-5	0.0
18	44057191	T	G	18	46477228	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.91991176785681E-5	0.0
18	44057192	A	C	18	46477229	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.67406312561927E-6	0.0
18	44057192	A	G	18	46477229	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.67406312561927E-6	0.0
18	44057192	A	T	18	46477229	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.67406312561927E-6	0.0
18	44057193	C	A	18	46477230	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.1548255067557E-5	0.0
18	44057193	C	G	18	46477230	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.1548255067557E-5	0.0
18	44057193	C	T	18	46477230	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.1548255067557E-5	0.0
18	44057194	A	C	18	46477231	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44057194	A	G	18	46477231	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44057194	A	T	18	46477231	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.31929338280547E-5	0.0
18	44057195	G	A	18	46477232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.68952365742707E-5	0.002
18	44057195	G	C	18	46477232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.68952365742707E-5	0.002
18	44057195	G	T	18	46477232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.68952365742707E-5	0.002
18	44057914	A	C	18	46477951	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon40:c.T6157G:p.Y2053D;LOXHD1:NM_001173129:exon9:c.T1060G:p.Y354D;LOXHD1:NM_001145473:exon9:c.T1060G:p.Y354D;LOXHD1:NM_001145472:exon23:c.T3010G:p.Y1004D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon39:c.T5725G:p.Y1909D;ENSG00000167210:ENST00000300591:exon23:c.T3010G:p.Y1004D;ENSG00000167210:ENST00000398705:exon9:c.T1060G:p.Y354D;ENSG00000167210:ENST00000398686:exon9:c.T1060G:p.Y354D;ENSG00000167210:ENST00000536736:exon40:c.T6157G:p.Y2053D;ENSG00000167210:ENST00000441893:exon21:c.T2956G:p.Y986D;ENSG00000167210:ENST00000398722:exon34:c.T5509G:p.Y1837D;ENSG00000167210:ENST00000579038:exon21:c.T2722G:p.Y908D;ENSG00000167210:ENST00000582408:exon21:c.T2824G:p.Y942D;	0.028553856903286	0.168
18	44057914	A	G	18	46477951	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon40:c.T6157C:p.Y2053H;LOXHD1:NM_001173129:exon9:c.T1060C:p.Y354H;LOXHD1:NM_001145473:exon9:c.T1060C:p.Y354H;LOXHD1:NM_001145472:exon23:c.T3010C:p.Y1004H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon39:c.T5725C:p.Y1909H;ENSG00000167210:ENST00000300591:exon23:c.T3010C:p.Y1004H;ENSG00000167210:ENST00000398705:exon9:c.T1060C:p.Y354H;ENSG00000167210:ENST00000398686:exon9:c.T1060C:p.Y354H;ENSG00000167210:ENST00000536736:exon40:c.T6157C:p.Y2053H;ENSG00000167210:ENST00000441893:exon21:c.T2956C:p.Y986H;ENSG00000167210:ENST00000398722:exon34:c.T5509C:p.Y1837H;ENSG00000167210:ENST00000579038:exon21:c.T2722C:p.Y908H;ENSG00000167210:ENST00000582408:exon21:c.T2824C:p.Y942H;	0.0496893631437115	0.242
18	44057914	A	T	18	46477951	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon40:c.T6157A:p.Y2053N;LOXHD1:NM_001173129:exon9:c.T1060A:p.Y354N;LOXHD1:NM_001145473:exon9:c.T1060A:p.Y354N;LOXHD1:NM_001145472:exon23:c.T3010A:p.Y1004N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon39:c.T5725A:p.Y1909N;ENSG00000167210:ENST00000300591:exon23:c.T3010A:p.Y1004N;ENSG00000167210:ENST00000398705:exon9:c.T1060A:p.Y354N;ENSG00000167210:ENST00000398686:exon9:c.T1060A:p.Y354N;ENSG00000167210:ENST00000536736:exon40:c.T6157A:p.Y2053N;ENSG00000167210:ENST00000441893:exon21:c.T2956A:p.Y986N;ENSG00000167210:ENST00000398722:exon34:c.T5509A:p.Y1837N;ENSG00000167210:ENST00000579038:exon21:c.T2722A:p.Y908N;ENSG00000167210:ENST00000582408:exon21:c.T2824A:p.Y942N;	0.0303592507372753	0.224
18	44057915	C	A	18	46477952	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon40:c.G6156T:p.V2052V;LOXHD1:NM_001173129:exon9:c.G1059T:p.V353V;LOXHD1:NM_001145473:exon9:c.G1059T:p.V353V;LOXHD1:NM_001145472:exon23:c.G3009T:p.V1003V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon39:c.G5724T:p.V1908V;ENSG00000167210:ENST00000300591:exon23:c.G3009T:p.V1003V;ENSG00000167210:ENST00000398705:exon9:c.G1059T:p.V353V;ENSG00000167210:ENST00000398686:exon9:c.G1059T:p.V353V;ENSG00000167210:ENST00000536736:exon40:c.G6156T:p.V2052V;ENSG00000167210:ENST00000441893:exon21:c.G2955T:p.V985V;ENSG00000167210:ENST00000398722:exon34:c.G5508T:p.V1836V;ENSG00000167210:ENST00000579038:exon21:c.G2721T:p.V907V;ENSG00000167210:ENST00000582408:exon21:c.G2823T:p.V941V;	0.395124034676575	0.624
18	44057915	C	G	18	46477952	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon40:c.G6156C:p.V2052V;LOXHD1:NM_001173129:exon9:c.G1059C:p.V353V;LOXHD1:NM_001145473:exon9:c.G1059C:p.V353V;LOXHD1:NM_001145472:exon23:c.G3009C:p.V1003V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon39:c.G5724C:p.V1908V;ENSG00000167210:ENST00000300591:exon23:c.G3009C:p.V1003V;ENSG00000167210:ENST00000398705:exon9:c.G1059C:p.V353V;ENSG00000167210:ENST00000398686:exon9:c.G1059C:p.V353V;ENSG00000167210:ENST00000536736:exon40:c.G6156C:p.V2052V;ENSG00000167210:ENST00000441893:exon21:c.G2955C:p.V985V;ENSG00000167210:ENST00000398722:exon34:c.G5508C:p.V1836V;ENSG00000167210:ENST00000579038:exon21:c.G2721C:p.V907V;ENSG00000167210:ENST00000582408:exon21:c.G2823C:p.V941V;	0.156921351233926	0.536
18	44057915	C	T	18	46477952	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon40:c.G6156A:p.V2052V;LOXHD1:NM_001173129:exon9:c.G1059A:p.V353V;LOXHD1:NM_001145473:exon9:c.G1059A:p.V353V;LOXHD1:NM_001145472:exon23:c.G3009A:p.V1003V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon39:c.G5724A:p.V1908V;ENSG00000167210:ENST00000300591:exon23:c.G3009A:p.V1003V;ENSG00000167210:ENST00000398705:exon9:c.G1059A:p.V353V;ENSG00000167210:ENST00000398686:exon9:c.G1059A:p.V353V;ENSG00000167210:ENST00000536736:exon40:c.G6156A:p.V2052V;ENSG00000167210:ENST00000441893:exon21:c.G2955A:p.V985V;ENSG00000167210:ENST00000398722:exon34:c.G5508A:p.V1836V;ENSG00000167210:ENST00000579038:exon21:c.G2721A:p.V907V;ENSG00000167210:ENST00000582408:exon21:c.G2823A:p.V941V;	0.086191883813007	0.248
18	44057916	C	A	18	46477953	y	y	splicing	LOXHD1(NM_001173129:exon10:c.1059-1G>T;NM_001145472:exon24:c.3009-1G>T;NM_144612:exon41:c.6156-1G>T;NM_001145473:exon10:c.1059-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon24:c.3009-1G>T;ENST00000398722:exon35:c.5508-1G>T;ENST00000579038:exon22:c.2721-1G>T;ENST00000398705:exon10:c.1059-1G>T;ENST00000441893:exon22:c.2955-1G>T;ENST00000536736:exon41:c.6156-1G>T;ENST00000582408:exon22:c.2823-1G>T;ENST00000398686:exon10:c.1059-1G>T;ENST00000441551:exon40:c.5724-1G>T)	.	.	0.999986675681007	0.94
18	44057916	C	G	18	46477953	y	y	splicing	LOXHD1(NM_001173129:exon10:c.1059-1G>C;NM_001145472:exon24:c.3009-1G>C;NM_144612:exon41:c.6156-1G>C;NM_001145473:exon10:c.1059-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon24:c.3009-1G>C;ENST00000398722:exon35:c.5508-1G>C;ENST00000579038:exon22:c.2721-1G>C;ENST00000398705:exon10:c.1059-1G>C;ENST00000441893:exon22:c.2955-1G>C;ENST00000536736:exon41:c.6156-1G>C;ENST00000582408:exon22:c.2823-1G>C;ENST00000398686:exon10:c.1059-1G>C;ENST00000441551:exon40:c.5724-1G>C)	.	.	0.999986675681007	0.94
18	44057916	C	T	18	46477953	y	y	splicing	LOXHD1(NM_001173129:exon10:c.1059-1G>A;NM_001145472:exon24:c.3009-1G>A;NM_144612:exon41:c.6156-1G>A;NM_001145473:exon10:c.1059-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon24:c.3009-1G>A;ENST00000398722:exon35:c.5508-1G>A;ENST00000579038:exon22:c.2721-1G>A;ENST00000398705:exon10:c.1059-1G>A;ENST00000441893:exon22:c.2955-1G>A;ENST00000536736:exon41:c.6156-1G>A;ENST00000582408:exon22:c.2823-1G>A;ENST00000398686:exon10:c.1059-1G>A;ENST00000441551:exon40:c.5724-1G>A)	.	.	0.999986675681007	0.94
18	44057917	T	A	18	46477954	y	y	splicing	LOXHD1(NM_001173129:exon10:c.1059-2A>T;NM_001145472:exon24:c.3009-2A>T;NM_144612:exon41:c.6156-2A>T;NM_001145473:exon10:c.1059-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon24:c.3009-2A>T;ENST00000398722:exon35:c.5508-2A>T;ENST00000579038:exon22:c.2721-2A>T;ENST00000398705:exon10:c.1059-2A>T;ENST00000441893:exon22:c.2955-2A>T;ENST00000536736:exon41:c.6156-2A>T;ENST00000582408:exon22:c.2823-2A>T;ENST00000398686:exon10:c.1059-2A>T;ENST00000441551:exon40:c.5724-2A>T)	.	.	0.999989917668626	0.934
18	44057917	T	C	18	46477954	y	y	splicing	LOXHD1(NM_001173129:exon10:c.1059-2A>G;NM_001145472:exon24:c.3009-2A>G;NM_144612:exon41:c.6156-2A>G;NM_001145473:exon10:c.1059-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon24:c.3009-2A>G;ENST00000398722:exon35:c.5508-2A>G;ENST00000579038:exon22:c.2721-2A>G;ENST00000398705:exon10:c.1059-2A>G;ENST00000441893:exon22:c.2955-2A>G;ENST00000536736:exon41:c.6156-2A>G;ENST00000582408:exon22:c.2823-2A>G;ENST00000398686:exon10:c.1059-2A>G;ENST00000441551:exon40:c.5724-2A>G)	.	.	0.999989917668626	0.934
18	44057917	T	G	18	46477954	y	y	splicing	LOXHD1(NM_001173129:exon10:c.1059-2A>C;NM_001145472:exon24:c.3009-2A>C;NM_144612:exon41:c.6156-2A>C;NM_001145473:exon10:c.1059-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon24:c.3009-2A>C;ENST00000398722:exon35:c.5508-2A>C;ENST00000579038:exon22:c.2721-2A>C;ENST00000398705:exon10:c.1059-2A>C;ENST00000441893:exon22:c.2955-2A>C;ENST00000536736:exon41:c.6156-2A>C;ENST00000582408:exon22:c.2823-2A>C;ENST00000398686:exon10:c.1059-2A>C;ENST00000441551:exon40:c.5724-2A>C)	.	.	0.999989917668626	0.934
18	44057918	G	A	18	46477955	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.71489032059736E-4	0.01
18	44057918	G	C	18	46477955	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998080756583697	0.972
18	44057918	G	T	18	46477955	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.898044143059046	0.682
18	44057919	G	A	18	46477956	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.91231701966893E-5	0.0
18	44057919	G	C	18	46477956	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.57255545267502E-5	0.0
18	44057919	G	T	18	46477956	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.67072497541259E-5	0.0
18	44057920	C	A	18	46477957	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.70414912842622E-5	0.008
18	44057920	C	G	18	46477957	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.1264754327017E-4	0.01
18	44057920	C	T	18	46477957	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.13918571238759E-4	0.002
18	44057921	A	C	18	46477958	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0118867286744975	0.204
18	44057921	A	G	18	46477958	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2657199140054E-5	0.016
18	44057921	A	T	18	46477958	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999254706661143	0.912
18	44057922	G	A	18	46477959	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.66595195676655E-5	0.004
18	44057922	G	C	18	46477959	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00177976500310583	0.148
18	44057922	G	T	18	46477959	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00346052223759238	0.076
18	44057923	A	C	18	46477960	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.26481479314785E-4	0.034
18	44057923	A	G	18	46477960	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.56678569131388E-5	0.004
18	44057923	A	T	18	46477960	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00208382792884555	0.018
18	44057924	G	A	18	46477961	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.20034849614363E-5	0.002
18	44057924	G	C	18	46477961	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.35490204573187E-4	0.042
18	44057924	G	T	18	46477961	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0057126474289252	0.058
18	44057925	A	C	18	46477962	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0248274823830981	0.348
18	44057925	A	G	18	46477962	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.21683964012643E-5	0.01
18	44057925	A	T	18	46477962	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0936014753427333	0.288
18	44057926	G	A	18	46477963	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.53428145205568E-6	0.0
18	44057926	G	C	18	46477963	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.98315414492981E-4	0.038
18	44057926	G	T	18	46477963	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.59254123967249E-4	0.02
18	44057927	G	A	18	46477964	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.49765605432157E-5	0.0
18	44057927	G	C	18	46477964	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99963167876898	0.972
18	44057927	G	T	18	46477964	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.84155079746755E-4	0.032
18	44063542	G	A	18	46483579	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.08663251221353E-4	0.014
18	44063542	G	C	18	46483579	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.31784073789121E-4	0.02
18	44063542	G	T	18	46483579	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.31784073789121E-4	0.01
18	44063543	T	A	18	46483580	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.36490370672694E-4	0.02
18	44063543	T	C	18	46483580	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.72504175561986E-4	0.018
18	44063543	T	G	18	46483580	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07884588602654E-5	0.0
18	44063544	A	C	18	46483581	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994606906377283	0.806
18	44063544	A	G	18	46483581	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996392653154593	0.82
18	44063544	A	T	18	46483581	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995953700660323	0.752
18	44063545	C	A	18	46483582	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999939018980269	0.96
18	44063545	C	G	18	46483582	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99996138863909	0.97
18	44063545	C	T	18	46483582	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999978836379771	0.972
18	44063546	A	C	18	46483583	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.78742836502423E-4	0.068
18	44063546	A	G	18	46483583	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.83277102901073E-5	0.018
18	44063546	A	T	18	46483583	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.17114021946477E-4	0.048
18	44063547	T	A	18	46483584	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999979118651666	0.932
18	44063547	T	C	18	46483584	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99911130351675	0.858
18	44063547	T	G	18	46483584	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999927546067556	0.914
18	44063548	A	C	18	46483585	y	y	splicing	LOXHD1(NM_001173129:exon9:c.1058+2T>G;NM_001145472:exon23:c.3008+2T>G;NM_144612:exon40:c.6155+2T>G;NM_001145473:exon9:c.1058+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.3008+2T>G;ENST00000398722:exon34:c.5507+2T>G;ENST00000579038:exon21:c.2720+2T>G;ENST00000398705:exon9:c.1058+2T>G;ENST00000441893:exon21:c.2954+2T>G;ENST00000536736:exon40:c.6155+2T>G;ENST00000582408:exon21:c.2822+2T>G;ENST00000398686:exon9:c.1058+2T>G;ENST00000441551:exon39:c.5723+2T>G)	.	.	0.999986741007567	0.932
18	44063548	A	G	18	46483585	y	y	splicing	LOXHD1(NM_001173129:exon9:c.1058+2T>C;NM_001145472:exon23:c.3008+2T>C;NM_144612:exon40:c.6155+2T>C;NM_001145473:exon9:c.1058+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.3008+2T>C;ENST00000398722:exon34:c.5507+2T>C;ENST00000579038:exon21:c.2720+2T>C;ENST00000398705:exon9:c.1058+2T>C;ENST00000441893:exon21:c.2954+2T>C;ENST00000536736:exon40:c.6155+2T>C;ENST00000582408:exon21:c.2822+2T>C;ENST00000398686:exon9:c.1058+2T>C;ENST00000441551:exon39:c.5723+2T>C)	.	.	0.998129895164925	0.794
18	44063548	A	T	18	46483585	y	y	splicing	LOXHD1(NM_001173129:exon9:c.1058+2T>A;NM_001145472:exon23:c.3008+2T>A;NM_144612:exon40:c.6155+2T>A;NM_001145473:exon9:c.1058+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.3008+2T>A;ENST00000398722:exon34:c.5507+2T>A;ENST00000579038:exon21:c.2720+2T>A;ENST00000398705:exon9:c.1058+2T>A;ENST00000441893:exon21:c.2954+2T>A;ENST00000536736:exon40:c.6155+2T>A;ENST00000582408:exon21:c.2822+2T>A;ENST00000398686:exon9:c.1058+2T>A;ENST00000441551:exon39:c.5723+2T>A)	.	.	0.999986741007567	0.938
18	44063549	C	A	18	46483586	y	y	splicing	LOXHD1(NM_001173129:exon9:c.1058+1G>T;NM_001145472:exon23:c.3008+1G>T;NM_144612:exon40:c.6155+1G>T;NM_001145473:exon9:c.1058+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.3008+1G>T;ENST00000398722:exon34:c.5507+1G>T;ENST00000579038:exon21:c.2720+1G>T;ENST00000398705:exon9:c.1058+1G>T;ENST00000441893:exon21:c.2954+1G>T;ENST00000536736:exon40:c.6155+1G>T;ENST00000582408:exon21:c.2822+1G>T;ENST00000398686:exon9:c.1058+1G>T;ENST00000441551:exon39:c.5723+1G>T)	.	.	0.999987670894945	0.94
18	44063549	C	G	18	46483586	y	y	splicing	LOXHD1(NM_001173129:exon9:c.1058+1G>C;NM_001145472:exon23:c.3008+1G>C;NM_144612:exon40:c.6155+1G>C;NM_001145473:exon9:c.1058+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.3008+1G>C;ENST00000398722:exon34:c.5507+1G>C;ENST00000579038:exon21:c.2720+1G>C;ENST00000398705:exon9:c.1058+1G>C;ENST00000441893:exon21:c.2954+1G>C;ENST00000536736:exon40:c.6155+1G>C;ENST00000582408:exon21:c.2822+1G>C;ENST00000398686:exon9:c.1058+1G>C;ENST00000441551:exon39:c.5723+1G>C)	.	.	0.999987670894945	0.94
18	44063549	C	T	18	46483586	y	y	splicing	LOXHD1(NM_001173129:exon9:c.1058+1G>A;NM_001145472:exon23:c.3008+1G>A;NM_144612:exon40:c.6155+1G>A;NM_001145473:exon9:c.1058+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.3008+1G>A;ENST00000398722:exon34:c.5507+1G>A;ENST00000579038:exon21:c.2720+1G>A;ENST00000398705:exon9:c.1058+1G>A;ENST00000441893:exon21:c.2954+1G>A;ENST00000536736:exon40:c.6155+1G>A;ENST00000582408:exon21:c.2822+1G>A;ENST00000398686:exon9:c.1058+1G>A;ENST00000441551:exon39:c.5723+1G>A)	.	.	0.999987670894945	0.94
18	44063550	A	C	18	46483587	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.T6155G:p.V2052G;LOXHD1:NM_001173129:exon8:c.T1058G:p.V353G;LOXHD1:NM_001145473:exon8:c.T1058G:p.V353G;LOXHD1:NM_001145472:exon22:c.T3008G:p.V1003G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.T5723G:p.V1908G;ENSG00000167210:ENST00000300591:exon22:c.T3008G:p.V1003G;ENSG00000167210:ENST00000398705:exon8:c.T1058G:p.V353G;ENSG00000167210:ENST00000398686:exon8:c.T1058G:p.V353G;ENSG00000167210:ENST00000536736:exon39:c.T6155G:p.V2052G;ENSG00000167210:ENST00000441893:exon20:c.T2954G:p.V985G;ENSG00000167210:ENST00000398722:exon33:c.T5507G:p.V1836G;ENSG00000167210:ENST00000579038:exon20:c.T2720G:p.V907G;ENSG00000167210:ENST00000582408:exon20:c.T2822G:p.V941G;	0.00128425311791945	0.062
18	44063550	A	G	18	46483587	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.T6155C:p.V2052A;LOXHD1:NM_001173129:exon8:c.T1058C:p.V353A;LOXHD1:NM_001145473:exon8:c.T1058C:p.V353A;LOXHD1:NM_001145472:exon22:c.T3008C:p.V1003A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.T5723C:p.V1908A;ENSG00000167210:ENST00000300591:exon22:c.T3008C:p.V1003A;ENSG00000167210:ENST00000398705:exon8:c.T1058C:p.V353A;ENSG00000167210:ENST00000398686:exon8:c.T1058C:p.V353A;ENSG00000167210:ENST00000536736:exon39:c.T6155C:p.V2052A;ENSG00000167210:ENST00000441893:exon20:c.T2954C:p.V985A;ENSG00000167210:ENST00000398722:exon33:c.T5507C:p.V1836A;ENSG00000167210:ENST00000579038:exon20:c.T2720C:p.V907A;ENSG00000167210:ENST00000582408:exon20:c.T2822C:p.V941A;	0.0231557840855761	0.394
18	44063550	A	T	18	46483587	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.T6155A:p.V2052E;LOXHD1:NM_001173129:exon8:c.T1058A:p.V353E;LOXHD1:NM_001145473:exon8:c.T1058A:p.V353E;LOXHD1:NM_001145472:exon22:c.T3008A:p.V1003E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.T5723A:p.V1908E;ENSG00000167210:ENST00000300591:exon22:c.T3008A:p.V1003E;ENSG00000167210:ENST00000398705:exon8:c.T1058A:p.V353E;ENSG00000167210:ENST00000398686:exon8:c.T1058A:p.V353E;ENSG00000167210:ENST00000536736:exon39:c.T6155A:p.V2052E;ENSG00000167210:ENST00000441893:exon20:c.T2954A:p.V985E;ENSG00000167210:ENST00000398722:exon33:c.T5507A:p.V1836E;ENSG00000167210:ENST00000579038:exon20:c.T2720A:p.V907E;ENSG00000167210:ENST00000582408:exon20:c.T2822A:p.V941E;	0.00410597930569361	0.034
18	44063551	C	A	18	46483588	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.G6154T:p.V2052L;LOXHD1:NM_001173129:exon8:c.G1057T:p.V353L;LOXHD1:NM_001145473:exon8:c.G1057T:p.V353L;LOXHD1:NM_001145472:exon22:c.G3007T:p.V1003L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5722T:p.V1908L;ENSG00000167210:ENST00000300591:exon22:c.G3007T:p.V1003L;ENSG00000167210:ENST00000398705:exon8:c.G1057T:p.V353L;ENSG00000167210:ENST00000398686:exon8:c.G1057T:p.V353L;ENSG00000167210:ENST00000536736:exon39:c.G6154T:p.V2052L;ENSG00000167210:ENST00000441893:exon20:c.G2953T:p.V985L;ENSG00000167210:ENST00000398722:exon33:c.G5506T:p.V1836L;ENSG00000167210:ENST00000579038:exon20:c.G2719T:p.V907L;ENSG00000167210:ENST00000582408:exon20:c.G2821T:p.V941L;	0.186807399648498	0.272
18	44063551	C	G	18	46483588	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.G6154C:p.V2052L;LOXHD1:NM_001173129:exon8:c.G1057C:p.V353L;LOXHD1:NM_001145473:exon8:c.G1057C:p.V353L;LOXHD1:NM_001145472:exon22:c.G3007C:p.V1003L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5722C:p.V1908L;ENSG00000167210:ENST00000300591:exon22:c.G3007C:p.V1003L;ENSG00000167210:ENST00000398705:exon8:c.G1057C:p.V353L;ENSG00000167210:ENST00000398686:exon8:c.G1057C:p.V353L;ENSG00000167210:ENST00000536736:exon39:c.G6154C:p.V2052L;ENSG00000167210:ENST00000441893:exon20:c.G2953C:p.V985L;ENSG00000167210:ENST00000398722:exon33:c.G5506C:p.V1836L;ENSG00000167210:ENST00000579038:exon20:c.G2719C:p.V907L;ENSG00000167210:ENST00000582408:exon20:c.G2821C:p.V941L;	0.0127513801036105	0.072
18	44063551	C	T	18	46483588	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.G6154A:p.V2052M;LOXHD1:NM_001173129:exon8:c.G1057A:p.V353M;LOXHD1:NM_001145473:exon8:c.G1057A:p.V353M;LOXHD1:NM_001145472:exon22:c.G3007A:p.V1003M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5722A:p.V1908M;ENSG00000167210:ENST00000300591:exon22:c.G3007A:p.V1003M;ENSG00000167210:ENST00000398705:exon8:c.G1057A:p.V353M;ENSG00000167210:ENST00000398686:exon8:c.G1057A:p.V353M;ENSG00000167210:ENST00000536736:exon39:c.G6154A:p.V2052M;ENSG00000167210:ENST00000441893:exon20:c.G2953A:p.V985M;ENSG00000167210:ENST00000398722:exon33:c.G5506A:p.V1836M;ENSG00000167210:ENST00000579038:exon20:c.G2719A:p.V907M;ENSG00000167210:ENST00000582408:exon20:c.G2821A:p.V941M;	0.00309257625645246	0.13
18	44063552	A	C	18	46483589	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.T6153G:p.N2051K;LOXHD1:NM_001173129:exon8:c.T1056G:p.N352K;LOXHD1:NM_001145473:exon8:c.T1056G:p.N352K;LOXHD1:NM_001145472:exon22:c.T3006G:p.N1002K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.T5721G:p.N1907K;ENSG00000167210:ENST00000300591:exon22:c.T3006G:p.N1002K;ENSG00000167210:ENST00000398705:exon8:c.T1056G:p.N352K;ENSG00000167210:ENST00000398686:exon8:c.T1056G:p.N352K;ENSG00000167210:ENST00000536736:exon39:c.T6153G:p.N2051K;ENSG00000167210:ENST00000441893:exon20:c.T2952G:p.N984K;ENSG00000167210:ENST00000398722:exon33:c.T5505G:p.N1835K;ENSG00000167210:ENST00000579038:exon20:c.T2718G:p.N906K;ENSG00000167210:ENST00000582408:exon20:c.T2820G:p.N940K;	2.99389533877379E-4	0.05
18	44063552	A	G	18	46483589	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon39:c.T6153C:p.N2051N;LOXHD1:NM_001173129:exon8:c.T1056C:p.N352N;LOXHD1:NM_001145473:exon8:c.T1056C:p.N352N;LOXHD1:NM_001145472:exon22:c.T3006C:p.N1002N;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.T5721C:p.N1907N;ENSG00000167210:ENST00000300591:exon22:c.T3006C:p.N1002N;ENSG00000167210:ENST00000398705:exon8:c.T1056C:p.N352N;ENSG00000167210:ENST00000398686:exon8:c.T1056C:p.N352N;ENSG00000167210:ENST00000536736:exon39:c.T6153C:p.N2051N;ENSG00000167210:ENST00000441893:exon20:c.T2952C:p.N984N;ENSG00000167210:ENST00000398722:exon33:c.T5505C:p.N1835N;ENSG00000167210:ENST00000579038:exon20:c.T2718C:p.N906N;ENSG00000167210:ENST00000582408:exon20:c.T2820C:p.N940N;	4.42951236021517E-5	0.014
18	44063552	A	T	18	46483589	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.T6153A:p.N2051K;LOXHD1:NM_001173129:exon8:c.T1056A:p.N352K;LOXHD1:NM_001145473:exon8:c.T1056A:p.N352K;LOXHD1:NM_001145472:exon22:c.T3006A:p.N1002K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.T5721A:p.N1907K;ENSG00000167210:ENST00000300591:exon22:c.T3006A:p.N1002K;ENSG00000167210:ENST00000398705:exon8:c.T1056A:p.N352K;ENSG00000167210:ENST00000398686:exon8:c.T1056A:p.N352K;ENSG00000167210:ENST00000536736:exon39:c.T6153A:p.N2051K;ENSG00000167210:ENST00000441893:exon20:c.T2952A:p.N984K;ENSG00000167210:ENST00000398722:exon33:c.T5505A:p.N1835K;ENSG00000167210:ENST00000579038:exon20:c.T2718A:p.N906K;ENSG00000167210:ENST00000582408:exon20:c.T2820A:p.N940K;	7.90585645503058E-5	0.032
18	44063707	C	A	18	46483744	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.G5998T:p.G2000W;LOXHD1:NM_001173129:exon8:c.G901T:p.G301W;LOXHD1:NM_001145473:exon8:c.G901T:p.G301W;LOXHD1:NM_001145472:exon22:c.G2851T:p.G951W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5566T:p.G1856W;ENSG00000167210:ENST00000300591:exon22:c.G2851T:p.G951W;ENSG00000167210:ENST00000398705:exon8:c.G901T:p.G301W;ENSG00000167210:ENST00000398686:exon8:c.G901T:p.G301W;ENSG00000167210:ENST00000536736:exon39:c.G5998T:p.G2000W;ENSG00000167210:ENST00000441893:exon20:c.G2797T:p.G933W;ENSG00000167210:ENST00000398722:exon33:c.G5350T:p.G1784W;ENSG00000167210:ENST00000579038:exon20:c.G2563T:p.G855W;ENSG00000167210:ENST00000582408:exon20:c.G2665T:p.G889W;	0.39166325808777	0.602
18	44063707	C	G	18	46483744	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.G5998C:p.G2000R;LOXHD1:NM_001173129:exon8:c.G901C:p.G301R;LOXHD1:NM_001145473:exon8:c.G901C:p.G301R;LOXHD1:NM_001145472:exon22:c.G2851C:p.G951R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5566C:p.G1856R;ENSG00000167210:ENST00000300591:exon22:c.G2851C:p.G951R;ENSG00000167210:ENST00000398705:exon8:c.G901C:p.G301R;ENSG00000167210:ENST00000398686:exon8:c.G901C:p.G301R;ENSG00000167210:ENST00000536736:exon39:c.G5998C:p.G2000R;ENSG00000167210:ENST00000441893:exon20:c.G2797C:p.G933R;ENSG00000167210:ENST00000398722:exon33:c.G5350C:p.G1784R;ENSG00000167210:ENST00000579038:exon20:c.G2563C:p.G855R;ENSG00000167210:ENST00000582408:exon20:c.G2665C:p.G889R;	0.883384199223319	0.768
18	44063707	C	T	18	46483744	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.G5998A:p.G2000R;LOXHD1:NM_001173129:exon8:c.G901A:p.G301R;LOXHD1:NM_001145473:exon8:c.G901A:p.G301R;LOXHD1:NM_001145472:exon22:c.G2851A:p.G951R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5566A:p.G1856R;ENSG00000167210:ENST00000300591:exon22:c.G2851A:p.G951R;ENSG00000167210:ENST00000398705:exon8:c.G901A:p.G301R;ENSG00000167210:ENST00000398686:exon8:c.G901A:p.G301R;ENSG00000167210:ENST00000536736:exon39:c.G5998A:p.G2000R;ENSG00000167210:ENST00000441893:exon20:c.G2797A:p.G933R;ENSG00000167210:ENST00000398722:exon33:c.G5350A:p.G1784R;ENSG00000167210:ENST00000579038:exon20:c.G2563A:p.G855R;ENSG00000167210:ENST00000582408:exon20:c.G2665A:p.G889R;	0.973344165285657	0.734
18	44063708	C	A	18	46483745	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.G5997T:p.K1999N;LOXHD1:NM_001173129:exon8:c.G900T:p.K300N;LOXHD1:NM_001145473:exon8:c.G900T:p.K300N;LOXHD1:NM_001145472:exon22:c.G2850T:p.K950N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5565T:p.K1855N;ENSG00000167210:ENST00000300591:exon22:c.G2850T:p.K950N;ENSG00000167210:ENST00000398705:exon8:c.G900T:p.K300N;ENSG00000167210:ENST00000398686:exon8:c.G900T:p.K300N;ENSG00000167210:ENST00000536736:exon39:c.G5997T:p.K1999N;ENSG00000167210:ENST00000441893:exon20:c.G2796T:p.K932N;ENSG00000167210:ENST00000398722:exon33:c.G5349T:p.K1783N;ENSG00000167210:ENST00000579038:exon20:c.G2562T:p.K854N;ENSG00000167210:ENST00000582408:exon20:c.G2664T:p.K888N;	0.130649719113933	0.392
18	44063708	C	G	18	46483745	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon39:c.G5997C:p.K1999N;LOXHD1:NM_001173129:exon8:c.G900C:p.K300N;LOXHD1:NM_001145473:exon8:c.G900C:p.K300N;LOXHD1:NM_001145472:exon22:c.G2850C:p.K950N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5565C:p.K1855N;ENSG00000167210:ENST00000300591:exon22:c.G2850C:p.K950N;ENSG00000167210:ENST00000398705:exon8:c.G900C:p.K300N;ENSG00000167210:ENST00000398686:exon8:c.G900C:p.K300N;ENSG00000167210:ENST00000536736:exon39:c.G5997C:p.K1999N;ENSG00000167210:ENST00000441893:exon20:c.G2796C:p.K932N;ENSG00000167210:ENST00000398722:exon33:c.G5349C:p.K1783N;ENSG00000167210:ENST00000579038:exon20:c.G2562C:p.K854N;ENSG00000167210:ENST00000582408:exon20:c.G2664C:p.K888N;	0.00645719377040173	0.164
18	44063708	C	T	18	46483745	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon39:c.G5997A:p.K1999K;LOXHD1:NM_001173129:exon8:c.G900A:p.K300K;LOXHD1:NM_001145473:exon8:c.G900A:p.K300K;LOXHD1:NM_001145472:exon22:c.G2850A:p.K950K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon38:c.G5565A:p.K1855K;ENSG00000167210:ENST00000300591:exon22:c.G2850A:p.K950K;ENSG00000167210:ENST00000398705:exon8:c.G900A:p.K300K;ENSG00000167210:ENST00000398686:exon8:c.G900A:p.K300K;ENSG00000167210:ENST00000536736:exon39:c.G5997A:p.K1999K;ENSG00000167210:ENST00000441893:exon20:c.G2796A:p.K932K;ENSG00000167210:ENST00000398722:exon33:c.G5349A:p.K1783K;ENSG00000167210:ENST00000579038:exon20:c.G2562A:p.K854K;ENSG00000167210:ENST00000582408:exon20:c.G2664A:p.K888K;	6.09763127988474E-4	0.09
18	44063709	C	A	18	46483746	y	y	splicing	LOXHD1(NM_001173129:exon9:c.900-1G>T;NM_001145472:exon23:c.2850-1G>T;NM_144612:exon40:c.5997-1G>T;NM_001145473:exon9:c.900-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.2850-1G>T;ENST00000398722:exon34:c.5349-1G>T;ENST00000579038:exon21:c.2562-1G>T;ENST00000398705:exon9:c.900-1G>T;ENST00000441893:exon21:c.2796-1G>T;ENST00000536736:exon40:c.5997-1G>T;ENST00000582408:exon21:c.2664-1G>T;ENST00000398686:exon9:c.900-1G>T;ENST00000441551:exon39:c.5565-1G>T)	.	.	0.999989072007339	0.934
18	44063709	C	G	18	46483746	y	y	splicing	LOXHD1(NM_001173129:exon9:c.900-1G>C;NM_001145472:exon23:c.2850-1G>C;NM_144612:exon40:c.5997-1G>C;NM_001145473:exon9:c.900-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.2850-1G>C;ENST00000398722:exon34:c.5349-1G>C;ENST00000579038:exon21:c.2562-1G>C;ENST00000398705:exon9:c.900-1G>C;ENST00000441893:exon21:c.2796-1G>C;ENST00000536736:exon40:c.5997-1G>C;ENST00000582408:exon21:c.2664-1G>C;ENST00000398686:exon9:c.900-1G>C;ENST00000441551:exon39:c.5565-1G>C)	.	.	0.999989072007339	0.934
18	44063709	C	T	18	46483746	y	y	splicing	LOXHD1(NM_001173129:exon9:c.900-1G>A;NM_001145472:exon23:c.2850-1G>A;NM_144612:exon40:c.5997-1G>A;NM_001145473:exon9:c.900-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.2850-1G>A;ENST00000398722:exon34:c.5349-1G>A;ENST00000579038:exon21:c.2562-1G>A;ENST00000398705:exon9:c.900-1G>A;ENST00000441893:exon21:c.2796-1G>A;ENST00000536736:exon40:c.5997-1G>A;ENST00000582408:exon21:c.2664-1G>A;ENST00000398686:exon9:c.900-1G>A;ENST00000441551:exon39:c.5565-1G>A)	.	.	0.999989072007339	0.934
18	44063710	T	A	18	46483747	y	y	splicing	LOXHD1(NM_001173129:exon9:c.900-2A>T;NM_001145472:exon23:c.2850-2A>T;NM_144612:exon40:c.5997-2A>T;NM_001145473:exon9:c.900-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.2850-2A>T;ENST00000398722:exon34:c.5349-2A>T;ENST00000579038:exon21:c.2562-2A>T;ENST00000398705:exon9:c.900-2A>T;ENST00000441893:exon21:c.2796-2A>T;ENST00000536736:exon40:c.5997-2A>T;ENST00000582408:exon21:c.2664-2A>T;ENST00000398686:exon9:c.900-2A>T;ENST00000441551:exon39:c.5565-2A>T)	.	.	0.999988247793601	0.93
18	44063710	T	C	18	46483747	y	y	splicing	LOXHD1(NM_001173129:exon9:c.900-2A>G;NM_001145472:exon23:c.2850-2A>G;NM_144612:exon40:c.5997-2A>G;NM_001145473:exon9:c.900-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.2850-2A>G;ENST00000398722:exon34:c.5349-2A>G;ENST00000579038:exon21:c.2562-2A>G;ENST00000398705:exon9:c.900-2A>G;ENST00000441893:exon21:c.2796-2A>G;ENST00000536736:exon40:c.5997-2A>G;ENST00000582408:exon21:c.2664-2A>G;ENST00000398686:exon9:c.900-2A>G;ENST00000441551:exon39:c.5565-2A>G)	.	.	0.999988247793601	0.93
18	44063710	T	G	18	46483747	y	y	splicing	LOXHD1(NM_001173129:exon9:c.900-2A>C;NM_001145472:exon23:c.2850-2A>C;NM_144612:exon40:c.5997-2A>C;NM_001145473:exon9:c.900-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon23:c.2850-2A>C;ENST00000398722:exon34:c.5349-2A>C;ENST00000579038:exon21:c.2562-2A>C;ENST00000398705:exon9:c.900-2A>C;ENST00000441893:exon21:c.2796-2A>C;ENST00000536736:exon40:c.5997-2A>C;ENST00000582408:exon21:c.2664-2A>C;ENST00000398686:exon9:c.900-2A>C;ENST00000441551:exon39:c.5565-2A>C)	.	.	0.999988247793601	0.93
18	44063711	G	A	18	46483748	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0701794681850932	0.14
18	44063711	G	C	18	46483748	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999736527531105	0.894
18	44063711	G	T	18	46483748	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.992570722803634	0.754
18	44063712	C	A	18	46483749	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.19086414255849E-5	0.0
18	44063712	C	G	18	46483749	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.25378625773309E-5	0.0
18	44063712	C	T	18	46483749	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.80452005917685E-4	0.004
18	44063713	A	C	18	46483750	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00736195675620673	0.194
18	44063713	A	G	18	46483750	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.15919213379316E-4	0.014
18	44063713	A	T	18	46483750	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995102096134207	0.73
18	44063714	G	A	18	46483751	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.97589293446066E-5	0.012
18	44063714	G	C	18	46483751	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00152834562336717	0.152
18	44063714	G	T	18	46483751	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00569868170511936	0.164
18	44063715	G	A	18	46483752	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.67029170605352E-4	0.0
18	44063715	G	C	18	46483752	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0017099733475872	0.102
18	44063715	G	T	18	46483752	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0027469134816039	0.168
18	44063716	A	C	18	46483753	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0139693231750581	0.166
18	44063716	A	G	18	46483753	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0130871583682545	0.07
18	44063716	A	T	18	46483753	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0669686203879546	0.24
18	44063717	A	C	18	46483754	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00198824326352502	0.096
18	44063717	A	G	18	46483754	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.27777283360638E-4	0.058
18	44063717	A	T	18	46483754	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.09957207460367E-4	0.07
18	44063718	A	C	18	46483755	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.36514812521512E-4	0.11
18	44063718	A	G	18	46483755	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.33438776439037E-5	0.024
18	44063718	A	T	18	46483755	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00196780769038359	0.158
18	44063719	C	A	18	46483756	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.6180801622809E-4	0.002
18	44063719	C	G	18	46483756	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.828361789755E-4	0.0
18	44063719	C	T	18	46483756	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00151556584611579	0.016
18	44063720	A	C	18	46483757	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0173843539513666	0.132
18	44063720	A	G	18	46483757	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.5728482925562E-4	0.042
18	44063720	A	T	18	46483757	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999853252382827	0.946
18	44064974	C	A	18	46485011	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.23049705287366E-4	0.012
18	44064974	C	G	18	46485011	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.23049705287366E-4	0.022
18	44064974	C	T	18	46485011	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.17477116288678E-4	0.054
18	44064975	T	A	18	46485012	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.42797926624379E-4	0.036
18	44064975	T	C	18	46485012	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.09876084756172E-4	0.184
18	44064975	T	G	18	46485012	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.08799345179517E-4	0.244
18	44064976	T	A	18	46485013	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.67279162384481E-4	0.042
18	44064976	T	C	18	46485013	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.59937721181839E-4	0.028
18	44064976	T	G	18	46485013	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.49458745339175E-4	0.124
18	44064977	C	A	18	46485014	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999883177684038	0.948
18	44064977	C	G	18	46485014	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999835903695142	0.942
18	44064977	C	T	18	46485014	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999912847627617	0.95
18	44064978	C	A	18	46485015	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.81069479410439E-4	0.128
18	44064978	C	G	18	46485015	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00134632297380955	0.418
18	44064978	C	T	18	46485015	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.36092015755045E-4	0.068
18	44064979	T	A	18	46485016	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999733882859946	0.94
18	44064979	T	C	18	46485016	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997791979423208	0.814
18	44064979	T	G	18	46485016	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999814859564105	0.92
18	44064980	A	C	18	46485017	y	y	splicing	LOXHD1(NM_001173129:exon8:c.899+2T>G;NM_001145472:exon22:c.2849+2T>G;NM_144612:exon39:c.5996+2T>G;NM_001145473:exon8:c.899+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2849+2T>G;ENST00000398722:exon33:c.5348+2T>G;ENST00000579038:exon20:c.2561+2T>G;ENST00000398705:exon8:c.899+2T>G;ENST00000441893:exon20:c.2795+2T>G;ENST00000536736:exon39:c.5996+2T>G;ENST00000582408:exon20:c.2663+2T>G;ENST00000398686:exon8:c.899+2T>G;ENST00000441551:exon38:c.5564+2T>G)	.	.	0.999926102992308	0.914
18	44064980	A	G	18	46485017	y	y	splicing	LOXHD1(NM_001173129:exon8:c.899+2T>C;NM_001145472:exon22:c.2849+2T>C;NM_144612:exon39:c.5996+2T>C;NM_001145473:exon8:c.899+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2849+2T>C;ENST00000398722:exon33:c.5348+2T>C;ENST00000579038:exon20:c.2561+2T>C;ENST00000398705:exon8:c.899+2T>C;ENST00000441893:exon20:c.2795+2T>C;ENST00000536736:exon39:c.5996+2T>C;ENST00000582408:exon20:c.2663+2T>C;ENST00000398686:exon8:c.899+2T>C;ENST00000441551:exon38:c.5564+2T>C)	.	.	0.961269395342731	0.652
18	44064980	A	T	18	46485017	y	y	splicing	LOXHD1(NM_001173129:exon8:c.899+2T>A;NM_001145472:exon22:c.2849+2T>A;NM_144612:exon39:c.5996+2T>A;NM_001145473:exon8:c.899+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2849+2T>A;ENST00000398722:exon33:c.5348+2T>A;ENST00000579038:exon20:c.2561+2T>A;ENST00000398705:exon8:c.899+2T>A;ENST00000441893:exon20:c.2795+2T>A;ENST00000536736:exon39:c.5996+2T>A;ENST00000582408:exon20:c.2663+2T>A;ENST00000398686:exon8:c.899+2T>A;ENST00000441551:exon38:c.5564+2T>A)	.	.	0.999926102992308	0.916
18	44064981	C	A	18	46485018	y	y	splicing	LOXHD1(NM_001173129:exon8:c.899+1G>T;NM_001145472:exon22:c.2849+1G>T;NM_144612:exon39:c.5996+1G>T;NM_001145473:exon8:c.899+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2849+1G>T;ENST00000398722:exon33:c.5348+1G>T;ENST00000579038:exon20:c.2561+1G>T;ENST00000398705:exon8:c.899+1G>T;ENST00000441893:exon20:c.2795+1G>T;ENST00000536736:exon39:c.5996+1G>T;ENST00000582408:exon20:c.2663+1G>T;ENST00000398686:exon8:c.899+1G>T;ENST00000441551:exon38:c.5564+1G>T)	.	.	0.999983315092066	0.91
18	44064981	C	G	18	46485018	y	y	splicing	LOXHD1(NM_001173129:exon8:c.899+1G>C;NM_001145472:exon22:c.2849+1G>C;NM_144612:exon39:c.5996+1G>C;NM_001145473:exon8:c.899+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2849+1G>C;ENST00000398722:exon33:c.5348+1G>C;ENST00000579038:exon20:c.2561+1G>C;ENST00000398705:exon8:c.899+1G>C;ENST00000441893:exon20:c.2795+1G>C;ENST00000536736:exon39:c.5996+1G>C;ENST00000582408:exon20:c.2663+1G>C;ENST00000398686:exon8:c.899+1G>C;ENST00000441551:exon38:c.5564+1G>C)	.	.	0.999983315092066	0.91
18	44064981	C	T	18	46485018	y	y	splicing	LOXHD1(NM_001173129:exon8:c.899+1G>A;NM_001145472:exon22:c.2849+1G>A;NM_144612:exon39:c.5996+1G>A;NM_001145473:exon8:c.899+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2849+1G>A;ENST00000398722:exon33:c.5348+1G>A;ENST00000579038:exon20:c.2561+1G>A;ENST00000398705:exon8:c.899+1G>A;ENST00000441893:exon20:c.2795+1G>A;ENST00000536736:exon39:c.5996+1G>A;ENST00000582408:exon20:c.2663+1G>A;ENST00000398686:exon8:c.899+1G>A;ENST00000441551:exon38:c.5564+1G>A)	.	.	0.999983315092066	0.91
18	44064982	T	A	18	46485019	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.A5996T:p.K1999M;LOXHD1:NM_001173129:exon7:c.A899T:p.K300M;LOXHD1:NM_001145473:exon7:c.A899T:p.K300M;LOXHD1:NM_001145472:exon21:c.A2849T:p.K950M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.A5564T:p.K1855M;ENSG00000167210:ENST00000300591:exon21:c.A2849T:p.K950M;ENSG00000167210:ENST00000398705:exon7:c.A899T:p.K300M;ENSG00000167210:ENST00000398686:exon7:c.A899T:p.K300M;ENSG00000167210:ENST00000536736:exon38:c.A5996T:p.K1999M;ENSG00000167210:ENST00000441893:exon19:c.A2795T:p.K932M;ENSG00000167210:ENST00000398722:exon32:c.A5348T:p.K1783M;ENSG00000167210:ENST00000579038:exon19:c.A2561T:p.K854M;ENSG00000167210:ENST00000582408:exon19:c.A2663T:p.K888M;	0.154229025778765	0.382
18	44064982	T	C	18	46485019	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.A5996G:p.K1999R;LOXHD1:NM_001173129:exon7:c.A899G:p.K300R;LOXHD1:NM_001145473:exon7:c.A899G:p.K300R;LOXHD1:NM_001145472:exon21:c.A2849G:p.K950R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.A5564G:p.K1855R;ENSG00000167210:ENST00000300591:exon21:c.A2849G:p.K950R;ENSG00000167210:ENST00000398705:exon7:c.A899G:p.K300R;ENSG00000167210:ENST00000398686:exon7:c.A899G:p.K300R;ENSG00000167210:ENST00000536736:exon38:c.A5996G:p.K1999R;ENSG00000167210:ENST00000441893:exon19:c.A2795G:p.K932R;ENSG00000167210:ENST00000398722:exon32:c.A5348G:p.K1783R;ENSG00000167210:ENST00000579038:exon19:c.A2561G:p.K854R;ENSG00000167210:ENST00000582408:exon19:c.A2663G:p.K888R;	0.0134523159890573	0.166
18	44064982	T	G	18	46485019	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.A5996C:p.K1999T;LOXHD1:NM_001173129:exon7:c.A899C:p.K300T;LOXHD1:NM_001145473:exon7:c.A899C:p.K300T;LOXHD1:NM_001145472:exon21:c.A2849C:p.K950T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.A5564C:p.K1855T;ENSG00000167210:ENST00000300591:exon21:c.A2849C:p.K950T;ENSG00000167210:ENST00000398705:exon7:c.A899C:p.K300T;ENSG00000167210:ENST00000398686:exon7:c.A899C:p.K300T;ENSG00000167210:ENST00000536736:exon38:c.A5996C:p.K1999T;ENSG00000167210:ENST00000441893:exon19:c.A2795C:p.K932T;ENSG00000167210:ENST00000398722:exon32:c.A5348C:p.K1783T;ENSG00000167210:ENST00000579038:exon19:c.A2561C:p.K854T;ENSG00000167210:ENST00000582408:exon19:c.A2663C:p.K888T;	0.072586406205374	0.38
18	44064983	T	A	18	46485020	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon38:c.A5995T:p.K1999X;LOXHD1:NM_001173129:exon7:c.A898T:p.K300X;LOXHD1:NM_001145473:exon7:c.A898T:p.K300X;LOXHD1:NM_001145472:exon21:c.A2848T:p.K950X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon37:c.A5563T:p.K1855X;ENSG00000167210:ENST00000300591:exon21:c.A2848T:p.K950X;ENSG00000167210:ENST00000398705:exon7:c.A898T:p.K300X;ENSG00000167210:ENST00000398686:exon7:c.A898T:p.K300X;ENSG00000167210:ENST00000536736:exon38:c.A5995T:p.K1999X;ENSG00000167210:ENST00000441893:exon19:c.A2794T:p.K932X;ENSG00000167210:ENST00000398722:exon32:c.A5347T:p.K1783X;ENSG00000167210:ENST00000579038:exon19:c.A2560T:p.K854X;ENSG00000167210:ENST00000582408:exon19:c.A2662T:p.K888X;	0.999414297193703	0.908
18	44064983	T	C	18	46485020	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.A5995G:p.K1999E;LOXHD1:NM_001173129:exon7:c.A898G:p.K300E;LOXHD1:NM_001145473:exon7:c.A898G:p.K300E;LOXHD1:NM_001145472:exon21:c.A2848G:p.K950E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.A5563G:p.K1855E;ENSG00000167210:ENST00000300591:exon21:c.A2848G:p.K950E;ENSG00000167210:ENST00000398705:exon7:c.A898G:p.K300E;ENSG00000167210:ENST00000398686:exon7:c.A898G:p.K300E;ENSG00000167210:ENST00000536736:exon38:c.A5995G:p.K1999E;ENSG00000167210:ENST00000441893:exon19:c.A2794G:p.K932E;ENSG00000167210:ENST00000398722:exon32:c.A5347G:p.K1783E;ENSG00000167210:ENST00000579038:exon19:c.A2560G:p.K854E;ENSG00000167210:ENST00000582408:exon19:c.A2662G:p.K888E;	0.997446268048166	0.862
18	44064983	T	G	18	46485020	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.A5995C:p.K1999Q;LOXHD1:NM_001173129:exon7:c.A898C:p.K300Q;LOXHD1:NM_001145473:exon7:c.A898C:p.K300Q;LOXHD1:NM_001145472:exon21:c.A2848C:p.K950Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.A5563C:p.K1855Q;ENSG00000167210:ENST00000300591:exon21:c.A2848C:p.K950Q;ENSG00000167210:ENST00000398705:exon7:c.A898C:p.K300Q;ENSG00000167210:ENST00000398686:exon7:c.A898C:p.K300Q;ENSG00000167210:ENST00000536736:exon38:c.A5995C:p.K1999Q;ENSG00000167210:ENST00000441893:exon19:c.A2794C:p.K932Q;ENSG00000167210:ENST00000398722:exon32:c.A5347C:p.K1783Q;ENSG00000167210:ENST00000579038:exon19:c.A2560C:p.K854Q;ENSG00000167210:ENST00000582408:exon19:c.A2662C:p.K888Q;	0.997652732565064	0.872
18	44064984	C	A	18	46485021	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.G5994T:p.R1998S;LOXHD1:NM_001173129:exon7:c.G897T:p.R299S;LOXHD1:NM_001145473:exon7:c.G897T:p.R299S;LOXHD1:NM_001145472:exon21:c.G2847T:p.R949S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.G5562T:p.R1854S;ENSG00000167210:ENST00000300591:exon21:c.G2847T:p.R949S;ENSG00000167210:ENST00000398705:exon7:c.G897T:p.R299S;ENSG00000167210:ENST00000398686:exon7:c.G897T:p.R299S;ENSG00000167210:ENST00000536736:exon38:c.G5994T:p.R1998S;ENSG00000167210:ENST00000441893:exon19:c.G2793T:p.R931S;ENSG00000167210:ENST00000398722:exon32:c.G5346T:p.R1782S;ENSG00000167210:ENST00000579038:exon19:c.G2559T:p.R853S;ENSG00000167210:ENST00000582408:exon19:c.G2661T:p.R887S;	0.0201886772762155	0.104
18	44064984	C	G	18	46485021	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.G5994C:p.R1998S;LOXHD1:NM_001173129:exon7:c.G897C:p.R299S;LOXHD1:NM_001145473:exon7:c.G897C:p.R299S;LOXHD1:NM_001145472:exon21:c.G2847C:p.R949S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.G5562C:p.R1854S;ENSG00000167210:ENST00000300591:exon21:c.G2847C:p.R949S;ENSG00000167210:ENST00000398705:exon7:c.G897C:p.R299S;ENSG00000167210:ENST00000398686:exon7:c.G897C:p.R299S;ENSG00000167210:ENST00000536736:exon38:c.G5994C:p.R1998S;ENSG00000167210:ENST00000441893:exon19:c.G2793C:p.R931S;ENSG00000167210:ENST00000398722:exon32:c.G5346C:p.R1782S;ENSG00000167210:ENST00000579038:exon19:c.G2559C:p.R853S;ENSG00000167210:ENST00000582408:exon19:c.G2661C:p.R887S;	3.6311094244487E-4	0.006
18	44064984	C	T	18	46485021	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon38:c.G5994A:p.R1998R;LOXHD1:NM_001173129:exon7:c.G897A:p.R299R;LOXHD1:NM_001145473:exon7:c.G897A:p.R299R;LOXHD1:NM_001145472:exon21:c.G2847A:p.R949R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.G5562A:p.R1854R;ENSG00000167210:ENST00000300591:exon21:c.G2847A:p.R949R;ENSG00000167210:ENST00000398705:exon7:c.G897A:p.R299R;ENSG00000167210:ENST00000398686:exon7:c.G897A:p.R299R;ENSG00000167210:ENST00000536736:exon38:c.G5994A:p.R1998R;ENSG00000167210:ENST00000441893:exon19:c.G2793A:p.R931R;ENSG00000167210:ENST00000398722:exon32:c.G5346A:p.R1782R;ENSG00000167210:ENST00000579038:exon19:c.G2559A:p.R853R;ENSG00000167210:ENST00000582408:exon19:c.G2661A:p.R887R;	3.56848162263491E-4	0.01
18	44065113	G	A	18	46485150	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon38:c.C5865T:p.T1955T;LOXHD1:NM_001173129:exon7:c.C768T:p.T256T;LOXHD1:NM_001145473:exon7:c.C768T:p.T256T;LOXHD1:NM_001145472:exon21:c.C2718T:p.T906T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.C5433T:p.T1811T;ENSG00000167210:ENST00000300591:exon21:c.C2718T:p.T906T;ENSG00000167210:ENST00000398705:exon7:c.C768T:p.T256T;ENSG00000167210:ENST00000398686:exon7:c.C768T:p.T256T;ENSG00000167210:ENST00000536736:exon38:c.C5865T:p.T1955T;ENSG00000167210:ENST00000441893:exon19:c.C2664T:p.T888T;ENSG00000167210:ENST00000398722:exon32:c.C5217T:p.T1739T;ENSG00000167210:ENST00000579038:exon19:c.C2430T:p.T810T;ENSG00000167210:ENST00000582408:exon19:c.C2532T:p.T844T;	0.00626117752204417	0.074
18	44065113	G	C	18	46485150	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon38:c.C5865G:p.T1955T;LOXHD1:NM_001173129:exon7:c.C768G:p.T256T;LOXHD1:NM_001145473:exon7:c.C768G:p.T256T;LOXHD1:NM_001145472:exon21:c.C2718G:p.T906T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.C5433G:p.T1811T;ENSG00000167210:ENST00000300591:exon21:c.C2718G:p.T906T;ENSG00000167210:ENST00000398705:exon7:c.C768G:p.T256T;ENSG00000167210:ENST00000398686:exon7:c.C768G:p.T256T;ENSG00000167210:ENST00000536736:exon38:c.C5865G:p.T1955T;ENSG00000167210:ENST00000441893:exon19:c.C2664G:p.T888T;ENSG00000167210:ENST00000398722:exon32:c.C5217G:p.T1739T;ENSG00000167210:ENST00000579038:exon19:c.C2430G:p.T810T;ENSG00000167210:ENST00000582408:exon19:c.C2532G:p.T844T;	0.0232801578570925	0.092
18	44065113	G	T	18	46485150	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon38:c.C5865A:p.T1955T;LOXHD1:NM_001173129:exon7:c.C768A:p.T256T;LOXHD1:NM_001145473:exon7:c.C768A:p.T256T;LOXHD1:NM_001145472:exon21:c.C2718A:p.T906T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.C5433A:p.T1811T;ENSG00000167210:ENST00000300591:exon21:c.C2718A:p.T906T;ENSG00000167210:ENST00000398705:exon7:c.C768A:p.T256T;ENSG00000167210:ENST00000398686:exon7:c.C768A:p.T256T;ENSG00000167210:ENST00000536736:exon38:c.C5865A:p.T1955T;ENSG00000167210:ENST00000441893:exon19:c.C2664A:p.T888T;ENSG00000167210:ENST00000398722:exon32:c.C5217A:p.T1739T;ENSG00000167210:ENST00000579038:exon19:c.C2430A:p.T810T;ENSG00000167210:ENST00000582408:exon19:c.C2532A:p.T844T;	0.0355192965654321	0.098
18	44065114	G	A	18	46485151	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.C5864T:p.T1955I;LOXHD1:NM_001173129:exon7:c.C767T:p.T256I;LOXHD1:NM_001145473:exon7:c.C767T:p.T256I;LOXHD1:NM_001145472:exon21:c.C2717T:p.T906I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.C5432T:p.T1811I;ENSG00000167210:ENST00000300591:exon21:c.C2717T:p.T906I;ENSG00000167210:ENST00000398705:exon7:c.C767T:p.T256I;ENSG00000167210:ENST00000398686:exon7:c.C767T:p.T256I;ENSG00000167210:ENST00000536736:exon38:c.C5864T:p.T1955I;ENSG00000167210:ENST00000441893:exon19:c.C2663T:p.T888I;ENSG00000167210:ENST00000398722:exon32:c.C5216T:p.T1739I;ENSG00000167210:ENST00000579038:exon19:c.C2429T:p.T810I;ENSG00000167210:ENST00000582408:exon19:c.C2531T:p.T844I;	0.217861730789965	0.398
18	44065114	G	C	18	46485151	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.C5864G:p.T1955S;LOXHD1:NM_001173129:exon7:c.C767G:p.T256S;LOXHD1:NM_001145473:exon7:c.C767G:p.T256S;LOXHD1:NM_001145472:exon21:c.C2717G:p.T906S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.C5432G:p.T1811S;ENSG00000167210:ENST00000300591:exon21:c.C2717G:p.T906S;ENSG00000167210:ENST00000398705:exon7:c.C767G:p.T256S;ENSG00000167210:ENST00000398686:exon7:c.C767G:p.T256S;ENSG00000167210:ENST00000536736:exon38:c.C5864G:p.T1955S;ENSG00000167210:ENST00000441893:exon19:c.C2663G:p.T888S;ENSG00000167210:ENST00000398722:exon32:c.C5216G:p.T1739S;ENSG00000167210:ENST00000579038:exon19:c.C2429G:p.T810S;ENSG00000167210:ENST00000582408:exon19:c.C2531G:p.T844S;	0.101081493155552	0.17
18	44065114	G	T	18	46485151	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon38:c.C5864A:p.T1955N;LOXHD1:NM_001173129:exon7:c.C767A:p.T256N;LOXHD1:NM_001145473:exon7:c.C767A:p.T256N;LOXHD1:NM_001145472:exon21:c.C2717A:p.T906N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon37:c.C5432A:p.T1811N;ENSG00000167210:ENST00000300591:exon21:c.C2717A:p.T906N;ENSG00000167210:ENST00000398705:exon7:c.C767A:p.T256N;ENSG00000167210:ENST00000398686:exon7:c.C767A:p.T256N;ENSG00000167210:ENST00000536736:exon38:c.C5864A:p.T1955N;ENSG00000167210:ENST00000441893:exon19:c.C2663A:p.T888N;ENSG00000167210:ENST00000398722:exon32:c.C5216A:p.T1739N;ENSG00000167210:ENST00000579038:exon19:c.C2429A:p.T810N;ENSG00000167210:ENST00000582408:exon19:c.C2531A:p.T844N;	0.0218279984423298	0.144
18	44065115	C	A	18	46485152	y	y	splicing	LOXHD1(NM_001173129:exon8:c.767-1G>T;NM_001145472:exon22:c.2717-1G>T;NM_144612:exon39:c.5864-1G>T;NM_001145473:exon8:c.767-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2717-1G>T;ENST00000398722:exon33:c.5216-1G>T;ENST00000579038:exon20:c.2429-1G>T;ENST00000398705:exon8:c.767-1G>T;ENST00000441893:exon20:c.2663-1G>T;ENST00000536736:exon39:c.5864-1G>T;ENST00000582408:exon20:c.2531-1G>T;ENST00000398686:exon8:c.767-1G>T;ENST00000441551:exon38:c.5432-1G>T)	.	.	0.999990361384395	0.938
18	44065115	C	G	18	46485152	y	y	splicing	LOXHD1(NM_001173129:exon8:c.767-1G>C;NM_001145472:exon22:c.2717-1G>C;NM_144612:exon39:c.5864-1G>C;NM_001145473:exon8:c.767-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2717-1G>C;ENST00000398722:exon33:c.5216-1G>C;ENST00000579038:exon20:c.2429-1G>C;ENST00000398705:exon8:c.767-1G>C;ENST00000441893:exon20:c.2663-1G>C;ENST00000536736:exon39:c.5864-1G>C;ENST00000582408:exon20:c.2531-1G>C;ENST00000398686:exon8:c.767-1G>C;ENST00000441551:exon38:c.5432-1G>C)	.	.	0.999990361384395	0.938
18	44065115	C	T	18	46485152	y	y	splicing	LOXHD1(NM_001173129:exon8:c.767-1G>A;NM_001145472:exon22:c.2717-1G>A;NM_144612:exon39:c.5864-1G>A;NM_001145473:exon8:c.767-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2717-1G>A;ENST00000398722:exon33:c.5216-1G>A;ENST00000579038:exon20:c.2429-1G>A;ENST00000398705:exon8:c.767-1G>A;ENST00000441893:exon20:c.2663-1G>A;ENST00000536736:exon39:c.5864-1G>A;ENST00000582408:exon20:c.2531-1G>A;ENST00000398686:exon8:c.767-1G>A;ENST00000441551:exon38:c.5432-1G>A)	.	.	0.999990361384395	0.938
18	44065116	T	A	18	46485153	y	y	splicing	LOXHD1(NM_001173129:exon8:c.767-2A>T;NM_001145472:exon22:c.2717-2A>T;NM_144612:exon39:c.5864-2A>T;NM_001145473:exon8:c.767-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2717-2A>T;ENST00000398722:exon33:c.5216-2A>T;ENST00000579038:exon20:c.2429-2A>T;ENST00000398705:exon8:c.767-2A>T;ENST00000441893:exon20:c.2663-2A>T;ENST00000536736:exon39:c.5864-2A>T;ENST00000582408:exon20:c.2531-2A>T;ENST00000398686:exon8:c.767-2A>T;ENST00000441551:exon38:c.5432-2A>T)	.	.	0.999988247793601	0.932
18	44065116	T	C	18	46485153	y	y	splicing	LOXHD1(NM_001173129:exon8:c.767-2A>G;NM_001145472:exon22:c.2717-2A>G;NM_144612:exon39:c.5864-2A>G;NM_001145473:exon8:c.767-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2717-2A>G;ENST00000398722:exon33:c.5216-2A>G;ENST00000579038:exon20:c.2429-2A>G;ENST00000398705:exon8:c.767-2A>G;ENST00000441893:exon20:c.2663-2A>G;ENST00000536736:exon39:c.5864-2A>G;ENST00000582408:exon20:c.2531-2A>G;ENST00000398686:exon8:c.767-2A>G;ENST00000441551:exon38:c.5432-2A>G)	.	.	0.999988247793601	0.932
18	44065116	T	G	18	46485153	y	y	splicing	LOXHD1(NM_001173129:exon8:c.767-2A>C;NM_001145472:exon22:c.2717-2A>C;NM_144612:exon39:c.5864-2A>C;NM_001145473:exon8:c.767-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon22:c.2717-2A>C;ENST00000398722:exon33:c.5216-2A>C;ENST00000579038:exon20:c.2429-2A>C;ENST00000398705:exon8:c.767-2A>C;ENST00000441893:exon20:c.2663-2A>C;ENST00000536736:exon39:c.5864-2A>C;ENST00000582408:exon20:c.2531-2A>C;ENST00000398686:exon8:c.767-2A>C;ENST00000441551:exon38:c.5432-2A>C)	.	.	0.999988247793601	0.932
18	44065117	G	A	18	46485154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.407895489054435	0.224
18	44065117	G	C	18	46485154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99994237908396	0.928
18	44065117	G	T	18	46485154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999924062189281	0.932
18	44065118	T	A	18	46485155	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.86367489481092E-5	0.02
18	44065118	T	C	18	46485155	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.22906141772216E-4	0.258
18	44065118	T	G	18	46485155	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.82077256783482E-4	0.022
18	44065119	A	C	18	46485156	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.276693211298509	0.484
18	44065119	A	G	18	46485156	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00112704490073574	0.112
18	44065119	A	T	18	46485156	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.384802282147088	0.48
18	44065120	A	C	18	46485157	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999968096066388	0.97
18	44065120	A	G	18	46485157	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.64676270533675E-4	0.068
18	44065120	A	T	18	46485157	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.053357927788928	0.204
18	44065121	T	A	18	46485158	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.18083843462436E-5	0.028
18	44065121	T	C	18	46485158	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.40264533589165E-5	0.028
18	44065121	T	G	18	46485158	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.77385126456347E-5	0.01
18	44065122	G	A	18	46485159	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.54407637643824E-4	0.12
18	44065122	G	C	18	46485159	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0665716470422824	0.178
18	44065122	G	T	18	46485159	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0123232662066699	0.13
18	44065123	G	A	18	46485160	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0244150298384198	0.15
18	44065123	G	C	18	46485160	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0333325739969309	0.2
18	44065123	G	T	18	46485160	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.110600043970749	0.288
18	44065124	A	C	18	46485161	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.742796787968538	0.468
18	44065124	A	G	18	46485161	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0115232596155896	0.114
18	44065124	A	T	18	46485161	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.476520794710404	0.46
18	44065125	G	A	18	46485162	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0928731148636615	0.316
18	44065125	G	C	18	46485162	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.312354728846203	0.254
18	44065125	G	T	18	46485162	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.619348636190039	0.26
18	44065126	G	A	18	46485163	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00477621026099544	0.178
18	44065126	G	C	18	46485163	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0817987384073774	0.182
18	44065126	G	T	18	46485163	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.18856733285386	0.226
18	44068927	C	A	18	46488964	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.40649679154853E-4	0.014
18	44068927	C	G	18	46488964	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.72102610182335E-4	0.164
18	44068927	C	T	18	46488964	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00151263094672507	0.014
18	44068928	C	A	18	46488965	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.93661797442745E-4	0.042
18	44068928	C	G	18	46488965	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.40649679154853E-4	0.01
18	44068928	C	T	18	46488965	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00246492885193697	0.164
18	44068929	A	C	18	46488966	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.993226795541106	0.826
18	44068929	A	G	18	46488966	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.989733391007413	0.88
18	44068929	A	T	18	46488966	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998608658480539	0.84
18	44068930	C	A	18	46488967	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999986823972912	0.962
18	44068930	C	G	18	46488967	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999986823972912	0.998
18	44068930	C	T	18	46488967	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999986823972912	1.0
18	44068931	A	C	18	46488968	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.45067850815662E-4	0.03
18	44068931	A	G	18	46488968	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.98988987455235E-5	0.01
18	44068931	A	T	18	46488968	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.39209438737924E-5	0.018
18	44068932	T	A	18	46488969	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99986927425165	0.888
18	44068932	T	C	18	46488969	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.986411179742278	0.762
18	44068932	T	G	18	46488969	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999833375473845	0.884
18	44068933	A	C	18	46488970	y	y	splicing	LOXHD1(NM_001173129:exon7:c.766+2T>G;NM_001145472:exon21:c.2716+2T>G;NM_144612:exon38:c.5863+2T>G;NM_001145473:exon7:c.766+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2716+2T>G;ENST00000398722:exon32:c.5215+2T>G;ENST00000579038:exon19:c.2428+2T>G;ENST00000398705:exon7:c.766+2T>G;ENST00000441893:exon19:c.2662+2T>G;ENST00000536736:exon38:c.5863+2T>G;ENST00000582408:exon19:c.2530+2T>G;ENST00000398686:exon7:c.766+2T>G;ENST00000441551:exon37:c.5431+2T>G)	.	.	0.999986741007567	0.942
18	44068933	A	G	18	46488970	y	y	splicing	LOXHD1(NM_001173129:exon7:c.766+2T>C;NM_001145472:exon21:c.2716+2T>C;NM_144612:exon38:c.5863+2T>C;NM_001145473:exon7:c.766+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2716+2T>C;ENST00000398722:exon32:c.5215+2T>C;ENST00000579038:exon19:c.2428+2T>C;ENST00000398705:exon7:c.766+2T>C;ENST00000441893:exon19:c.2662+2T>C;ENST00000536736:exon38:c.5863+2T>C;ENST00000582408:exon19:c.2530+2T>C;ENST00000398686:exon7:c.766+2T>C;ENST00000441551:exon37:c.5431+2T>C)	.	.	0.993600568923982	0.72
18	44068933	A	T	18	46488970	y	y	splicing	LOXHD1(NM_001173129:exon7:c.766+2T>A;NM_001145472:exon21:c.2716+2T>A;NM_144612:exon38:c.5863+2T>A;NM_001145473:exon7:c.766+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2716+2T>A;ENST00000398722:exon32:c.5215+2T>A;ENST00000579038:exon19:c.2428+2T>A;ENST00000398705:exon7:c.766+2T>A;ENST00000441893:exon19:c.2662+2T>A;ENST00000536736:exon38:c.5863+2T>A;ENST00000582408:exon19:c.2530+2T>A;ENST00000398686:exon7:c.766+2T>A;ENST00000441551:exon37:c.5431+2T>A)	.	.	0.999986741007567	0.944
18	44068934	C	A	18	46488971	y	y	splicing	LOXHD1(NM_001173129:exon7:c.766+1G>T;NM_001145472:exon21:c.2716+1G>T;NM_144612:exon38:c.5863+1G>T;NM_001145473:exon7:c.766+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2716+1G>T;ENST00000398722:exon32:c.5215+1G>T;ENST00000579038:exon19:c.2428+1G>T;ENST00000398705:exon7:c.766+1G>T;ENST00000441893:exon19:c.2662+1G>T;ENST00000536736:exon38:c.5863+1G>T;ENST00000582408:exon19:c.2530+1G>T;ENST00000398686:exon7:c.766+1G>T;ENST00000441551:exon37:c.5431+1G>T)	.	.	0.999983677848485	0.942
18	44068934	C	G	18	46488971	y	y	splicing	LOXHD1(NM_001173129:exon7:c.766+1G>C;NM_001145472:exon21:c.2716+1G>C;NM_144612:exon38:c.5863+1G>C;NM_001145473:exon7:c.766+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2716+1G>C;ENST00000398722:exon32:c.5215+1G>C;ENST00000579038:exon19:c.2428+1G>C;ENST00000398705:exon7:c.766+1G>C;ENST00000441893:exon19:c.2662+1G>C;ENST00000536736:exon38:c.5863+1G>C;ENST00000582408:exon19:c.2530+1G>C;ENST00000398686:exon7:c.766+1G>C;ENST00000441551:exon37:c.5431+1G>C)	.	.	0.999983677848485	0.942
18	44068934	C	T	18	46488971	y	y	splicing	LOXHD1(NM_001173129:exon7:c.766+1G>A;NM_001145472:exon21:c.2716+1G>A;NM_144612:exon38:c.5863+1G>A;NM_001145473:exon7:c.766+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2716+1G>A;ENST00000398722:exon32:c.5215+1G>A;ENST00000579038:exon19:c.2428+1G>A;ENST00000398705:exon7:c.766+1G>A;ENST00000441893:exon19:c.2662+1G>A;ENST00000536736:exon38:c.5863+1G>A;ENST00000582408:exon19:c.2530+1G>A;ENST00000398686:exon7:c.766+1G>A;ENST00000441551:exon37:c.5431+1G>A)	.	.	0.999983677848485	0.942
18	44068935	T	A	18	46488972	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.A5863T:p.T1955S;LOXHD1:NM_001173129:exon6:c.A766T:p.T256S;LOXHD1:NM_001145473:exon6:c.A766T:p.T256S;LOXHD1:NM_001145472:exon20:c.A2716T:p.T906S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.A5431T:p.T1811S;ENSG00000167210:ENST00000300591:exon20:c.A2716T:p.T906S;ENSG00000167210:ENST00000398705:exon6:c.A766T:p.T256S;ENSG00000167210:ENST00000398686:exon6:c.A766T:p.T256S;ENSG00000167210:ENST00000536736:exon37:c.A5863T:p.T1955S;ENSG00000167210:ENST00000441893:exon18:c.A2662T:p.T888S;ENSG00000167210:ENST00000398722:exon31:c.A5215T:p.T1739S;ENSG00000167210:ENST00000579038:exon18:c.A2428T:p.T810S;ENSG00000167210:ENST00000582408:exon18:c.A2530T:p.T844S;	0.0358157061055529	0.156
18	44068935	T	C	18	46488972	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.A5863G:p.T1955A;LOXHD1:NM_001173129:exon6:c.A766G:p.T256A;LOXHD1:NM_001145473:exon6:c.A766G:p.T256A;LOXHD1:NM_001145472:exon20:c.A2716G:p.T906A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.A5431G:p.T1811A;ENSG00000167210:ENST00000300591:exon20:c.A2716G:p.T906A;ENSG00000167210:ENST00000398705:exon6:c.A766G:p.T256A;ENSG00000167210:ENST00000398686:exon6:c.A766G:p.T256A;ENSG00000167210:ENST00000536736:exon37:c.A5863G:p.T1955A;ENSG00000167210:ENST00000441893:exon18:c.A2662G:p.T888A;ENSG00000167210:ENST00000398722:exon31:c.A5215G:p.T1739A;ENSG00000167210:ENST00000579038:exon18:c.A2428G:p.T810A;ENSG00000167210:ENST00000582408:exon18:c.A2530G:p.T844A;	6.13255469273896E-4	0.056
18	44068935	T	G	18	46488972	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.A5863C:p.T1955P;LOXHD1:NM_001173129:exon6:c.A766C:p.T256P;LOXHD1:NM_001145473:exon6:c.A766C:p.T256P;LOXHD1:NM_001145472:exon20:c.A2716C:p.T906P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.A5431C:p.T1811P;ENSG00000167210:ENST00000300591:exon20:c.A2716C:p.T906P;ENSG00000167210:ENST00000398705:exon6:c.A766C:p.T256P;ENSG00000167210:ENST00000398686:exon6:c.A766C:p.T256P;ENSG00000167210:ENST00000536736:exon37:c.A5863C:p.T1955P;ENSG00000167210:ENST00000441893:exon18:c.A2662C:p.T888P;ENSG00000167210:ENST00000398722:exon31:c.A5215C:p.T1739P;ENSG00000167210:ENST00000579038:exon18:c.A2428C:p.T810P;ENSG00000167210:ENST00000582408:exon18:c.A2530C:p.T844P;	0.00744801486884916	0.098
18	44068936	G	A	18	46488973	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon37:c.C5862T:p.T1954T;LOXHD1:NM_001173129:exon6:c.C765T:p.T255T;LOXHD1:NM_001145473:exon6:c.C765T:p.T255T;LOXHD1:NM_001145472:exon20:c.C2715T:p.T905T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.C5430T:p.T1810T;ENSG00000167210:ENST00000300591:exon20:c.C2715T:p.T905T;ENSG00000167210:ENST00000398705:exon6:c.C765T:p.T255T;ENSG00000167210:ENST00000398686:exon6:c.C765T:p.T255T;ENSG00000167210:ENST00000536736:exon37:c.C5862T:p.T1954T;ENSG00000167210:ENST00000441893:exon18:c.C2661T:p.T887T;ENSG00000167210:ENST00000398722:exon31:c.C5214T:p.T1738T;ENSG00000167210:ENST00000579038:exon18:c.C2427T:p.T809T;ENSG00000167210:ENST00000582408:exon18:c.C2529T:p.T843T;	0.207938944220571	0.336
18	44068936	G	C	18	46488973	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon37:c.C5862G:p.T1954T;LOXHD1:NM_001173129:exon6:c.C765G:p.T255T;LOXHD1:NM_001145473:exon6:c.C765G:p.T255T;LOXHD1:NM_001145472:exon20:c.C2715G:p.T905T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.C5430G:p.T1810T;ENSG00000167210:ENST00000300591:exon20:c.C2715G:p.T905T;ENSG00000167210:ENST00000398705:exon6:c.C765G:p.T255T;ENSG00000167210:ENST00000398686:exon6:c.C765G:p.T255T;ENSG00000167210:ENST00000536736:exon37:c.C5862G:p.T1954T;ENSG00000167210:ENST00000441893:exon18:c.C2661G:p.T887T;ENSG00000167210:ENST00000398722:exon31:c.C5214G:p.T1738T;ENSG00000167210:ENST00000579038:exon18:c.C2427G:p.T809T;ENSG00000167210:ENST00000582408:exon18:c.C2529G:p.T843T;	0.0149429532076341	0.122
18	44068936	G	T	18	46488973	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon37:c.C5862A:p.T1954T;LOXHD1:NM_001173129:exon6:c.C765A:p.T255T;LOXHD1:NM_001145473:exon6:c.C765A:p.T255T;LOXHD1:NM_001145472:exon20:c.C2715A:p.T905T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.C5430A:p.T1810T;ENSG00000167210:ENST00000300591:exon20:c.C2715A:p.T905T;ENSG00000167210:ENST00000398705:exon6:c.C765A:p.T255T;ENSG00000167210:ENST00000398686:exon6:c.C765A:p.T255T;ENSG00000167210:ENST00000536736:exon37:c.C5862A:p.T1954T;ENSG00000167210:ENST00000441893:exon18:c.C2661A:p.T887T;ENSG00000167210:ENST00000398722:exon31:c.C5214A:p.T1738T;ENSG00000167210:ENST00000579038:exon18:c.C2427A:p.T809T;ENSG00000167210:ENST00000582408:exon18:c.C2529A:p.T843T;	0.00233930241450077	0.114
18	44068937	G	A	18	46488974	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.C5861T:p.T1954I;LOXHD1:NM_001173129:exon6:c.C764T:p.T255I;LOXHD1:NM_001145473:exon6:c.C764T:p.T255I;LOXHD1:NM_001145472:exon20:c.C2714T:p.T905I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.C5429T:p.T1810I;ENSG00000167210:ENST00000300591:exon20:c.C2714T:p.T905I;ENSG00000167210:ENST00000398705:exon6:c.C764T:p.T255I;ENSG00000167210:ENST00000398686:exon6:c.C764T:p.T255I;ENSG00000167210:ENST00000536736:exon37:c.C5861T:p.T1954I;ENSG00000167210:ENST00000441893:exon18:c.C2660T:p.T887I;ENSG00000167210:ENST00000398722:exon31:c.C5213T:p.T1738I;ENSG00000167210:ENST00000579038:exon18:c.C2426T:p.T809I;ENSG00000167210:ENST00000582408:exon18:c.C2528T:p.T843I;	0.995206868727833	0.852
18	44068937	G	C	18	46488974	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.C5861G:p.T1954S;LOXHD1:NM_001173129:exon6:c.C764G:p.T255S;LOXHD1:NM_001145473:exon6:c.C764G:p.T255S;LOXHD1:NM_001145472:exon20:c.C2714G:p.T905S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.C5429G:p.T1810S;ENSG00000167210:ENST00000300591:exon20:c.C2714G:p.T905S;ENSG00000167210:ENST00000398705:exon6:c.C764G:p.T255S;ENSG00000167210:ENST00000398686:exon6:c.C764G:p.T255S;ENSG00000167210:ENST00000536736:exon37:c.C5861G:p.T1954S;ENSG00000167210:ENST00000441893:exon18:c.C2660G:p.T887S;ENSG00000167210:ENST00000398722:exon31:c.C5213G:p.T1738S;ENSG00000167210:ENST00000579038:exon18:c.C2426G:p.T809S;ENSG00000167210:ENST00000582408:exon18:c.C2528G:p.T843S;	0.970302998663584	0.646
18	44068937	G	T	18	46488974	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.C5861A:p.T1954N;LOXHD1:NM_001173129:exon6:c.C764A:p.T255N;LOXHD1:NM_001145473:exon6:c.C764A:p.T255N;LOXHD1:NM_001145472:exon20:c.C2714A:p.T905N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.C5429A:p.T1810N;ENSG00000167210:ENST00000300591:exon20:c.C2714A:p.T905N;ENSG00000167210:ENST00000398705:exon6:c.C764A:p.T255N;ENSG00000167210:ENST00000398686:exon6:c.C764A:p.T255N;ENSG00000167210:ENST00000536736:exon37:c.C5861A:p.T1954N;ENSG00000167210:ENST00000441893:exon18:c.C2660A:p.T887N;ENSG00000167210:ENST00000398722:exon31:c.C5213A:p.T1738N;ENSG00000167210:ENST00000579038:exon18:c.C2426A:p.T809N;ENSG00000167210:ENST00000582408:exon18:c.C2528A:p.T843N;	0.789432360750095	0.586
18	44069104	C	A	18	46489141	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon37:c.G5694T:p.G1898G;LOXHD1:NM_001173129:exon6:c.G597T:p.G199G;LOXHD1:NM_001145473:exon6:c.G597T:p.G199G;LOXHD1:NM_001145472:exon20:c.G2547T:p.G849G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.G5262T:p.G1754G;ENSG00000167210:ENST00000300591:exon20:c.G2547T:p.G849G;ENSG00000167210:ENST00000398705:exon6:c.G597T:p.G199G;ENSG00000167210:ENST00000398686:exon6:c.G597T:p.G199G;ENSG00000167210:ENST00000536736:exon37:c.G5694T:p.G1898G;ENSG00000167210:ENST00000441893:exon18:c.G2493T:p.G831G;ENSG00000167210:ENST00000398722:exon31:c.G5046T:p.G1682G;ENSG00000167210:ENST00000579038:exon18:c.G2259T:p.G753G;ENSG00000167210:ENST00000582408:exon18:c.G2361T:p.G787G;	5.45637340164062E-5	0.0
18	44069104	C	G	18	46489141	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon37:c.G5694C:p.G1898G;LOXHD1:NM_001173129:exon6:c.G597C:p.G199G;LOXHD1:NM_001145473:exon6:c.G597C:p.G199G;LOXHD1:NM_001145472:exon20:c.G2547C:p.G849G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.G5262C:p.G1754G;ENSG00000167210:ENST00000300591:exon20:c.G2547C:p.G849G;ENSG00000167210:ENST00000398705:exon6:c.G597C:p.G199G;ENSG00000167210:ENST00000398686:exon6:c.G597C:p.G199G;ENSG00000167210:ENST00000536736:exon37:c.G5694C:p.G1898G;ENSG00000167210:ENST00000441893:exon18:c.G2493C:p.G831G;ENSG00000167210:ENST00000398722:exon31:c.G5046C:p.G1682G;ENSG00000167210:ENST00000579038:exon18:c.G2259C:p.G753G;ENSG00000167210:ENST00000582408:exon18:c.G2361C:p.G787G;	4.04300991582764E-5	0.0
18	44069104	C	T	18	46489141	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon37:c.G5694A:p.G1898G;LOXHD1:NM_001173129:exon6:c.G597A:p.G199G;LOXHD1:NM_001145473:exon6:c.G597A:p.G199G;LOXHD1:NM_001145472:exon20:c.G2547A:p.G849G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.G5262A:p.G1754G;ENSG00000167210:ENST00000300591:exon20:c.G2547A:p.G849G;ENSG00000167210:ENST00000398705:exon6:c.G597A:p.G199G;ENSG00000167210:ENST00000398686:exon6:c.G597A:p.G199G;ENSG00000167210:ENST00000536736:exon37:c.G5694A:p.G1898G;ENSG00000167210:ENST00000441893:exon18:c.G2493A:p.G831G;ENSG00000167210:ENST00000398722:exon31:c.G5046A:p.G1682G;ENSG00000167210:ENST00000579038:exon18:c.G2259A:p.G753G;ENSG00000167210:ENST00000582408:exon18:c.G2361A:p.G787G;	7.34833939324216E-5	0.002
18	44069105	C	A	18	46489142	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.G5693T:p.G1898V;LOXHD1:NM_001173129:exon6:c.G596T:p.G199V;LOXHD1:NM_001145473:exon6:c.G596T:p.G199V;LOXHD1:NM_001145472:exon20:c.G2546T:p.G849V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.G5261T:p.G1754V;ENSG00000167210:ENST00000300591:exon20:c.G2546T:p.G849V;ENSG00000167210:ENST00000398705:exon6:c.G596T:p.G199V;ENSG00000167210:ENST00000398686:exon6:c.G596T:p.G199V;ENSG00000167210:ENST00000536736:exon37:c.G5693T:p.G1898V;ENSG00000167210:ENST00000441893:exon18:c.G2492T:p.G831V;ENSG00000167210:ENST00000398722:exon31:c.G5045T:p.G1682V;ENSG00000167210:ENST00000579038:exon18:c.G2258T:p.G753V;ENSG00000167210:ENST00000582408:exon18:c.G2360T:p.G787V;	0.95868229367365	0.656
18	44069105	C	G	18	46489142	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.G5693C:p.G1898A;LOXHD1:NM_001173129:exon6:c.G596C:p.G199A;LOXHD1:NM_001145473:exon6:c.G596C:p.G199A;LOXHD1:NM_001145472:exon20:c.G2546C:p.G849A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.G5261C:p.G1754A;ENSG00000167210:ENST00000300591:exon20:c.G2546C:p.G849A;ENSG00000167210:ENST00000398705:exon6:c.G596C:p.G199A;ENSG00000167210:ENST00000398686:exon6:c.G596C:p.G199A;ENSG00000167210:ENST00000536736:exon37:c.G5693C:p.G1898A;ENSG00000167210:ENST00000441893:exon18:c.G2492C:p.G831A;ENSG00000167210:ENST00000398722:exon31:c.G5045C:p.G1682A;ENSG00000167210:ENST00000579038:exon18:c.G2258C:p.G753A;ENSG00000167210:ENST00000582408:exon18:c.G2360C:p.G787A;	0.961500973697915	0.698
18	44069105	C	T	18	46489142	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon37:c.G5693A:p.G1898E;LOXHD1:NM_001173129:exon6:c.G596A:p.G199E;LOXHD1:NM_001145473:exon6:c.G596A:p.G199E;LOXHD1:NM_001145472:exon20:c.G2546A:p.G849E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon36:c.G5261A:p.G1754E;ENSG00000167210:ENST00000300591:exon20:c.G2546A:p.G849E;ENSG00000167210:ENST00000398705:exon6:c.G596A:p.G199E;ENSG00000167210:ENST00000398686:exon6:c.G596A:p.G199E;ENSG00000167210:ENST00000536736:exon37:c.G5693A:p.G1898E;ENSG00000167210:ENST00000441893:exon18:c.G2492A:p.G831E;ENSG00000167210:ENST00000398722:exon31:c.G5045A:p.G1682E;ENSG00000167210:ENST00000579038:exon18:c.G2258A:p.G753E;ENSG00000167210:ENST00000582408:exon18:c.G2360A:p.G787E;	0.732072643190229	0.566
18	44069106	C	A	18	46489143	y	y	splicing	LOXHD1(NM_001173129:exon7:c.596-1G>T;NM_001145472:exon21:c.2546-1G>T;NM_144612:exon38:c.5693-1G>T;NM_001145473:exon7:c.596-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2546-1G>T;ENST00000398722:exon32:c.5045-1G>T;ENST00000579038:exon19:c.2258-1G>T;ENST00000398705:exon7:c.596-1G>T;ENST00000441893:exon19:c.2492-1G>T;ENST00000536736:exon38:c.5693-1G>T;ENST00000582408:exon19:c.2360-1G>T;ENST00000398686:exon7:c.596-1G>T;ENST00000441551:exon37:c.5261-1G>T)	.	.	0.99993314117114	0.93
18	44069106	C	G	18	46489143	y	y	splicing	LOXHD1(NM_001173129:exon7:c.596-1G>C;NM_001145472:exon21:c.2546-1G>C;NM_144612:exon38:c.5693-1G>C;NM_001145473:exon7:c.596-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2546-1G>C;ENST00000398722:exon32:c.5045-1G>C;ENST00000579038:exon19:c.2258-1G>C;ENST00000398705:exon7:c.596-1G>C;ENST00000441893:exon19:c.2492-1G>C;ENST00000536736:exon38:c.5693-1G>C;ENST00000582408:exon19:c.2360-1G>C;ENST00000398686:exon7:c.596-1G>C;ENST00000441551:exon37:c.5261-1G>C)	.	.	0.99993314117114	0.932
18	44069106	C	T	18	46489143	y	y	splicing	LOXHD1(NM_001173129:exon7:c.596-1G>A;NM_001145472:exon21:c.2546-1G>A;NM_144612:exon38:c.5693-1G>A;NM_001145473:exon7:c.596-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2546-1G>A;ENST00000398722:exon32:c.5045-1G>A;ENST00000579038:exon19:c.2258-1G>A;ENST00000398705:exon7:c.596-1G>A;ENST00000441893:exon19:c.2492-1G>A;ENST00000536736:exon38:c.5693-1G>A;ENST00000582408:exon19:c.2360-1G>A;ENST00000398686:exon7:c.596-1G>A;ENST00000441551:exon37:c.5261-1G>A)	.	.	0.999974090184857	0.93
18	44069107	T	A	18	46489144	y	y	splicing	LOXHD1(NM_001173129:exon7:c.596-2A>T;NM_001145472:exon21:c.2546-2A>T;NM_144612:exon38:c.5693-2A>T;NM_001145473:exon7:c.596-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2546-2A>T;ENST00000398722:exon32:c.5045-2A>T;ENST00000579038:exon19:c.2258-2A>T;ENST00000398705:exon7:c.596-2A>T;ENST00000441893:exon19:c.2492-2A>T;ENST00000536736:exon38:c.5693-2A>T;ENST00000582408:exon19:c.2360-2A>T;ENST00000398686:exon7:c.596-2A>T;ENST00000441551:exon37:c.5261-2A>T)	.	.	0.99994568797423	0.92
18	44069107	T	C	18	46489144	y	y	splicing	LOXHD1(NM_001173129:exon7:c.596-2A>G;NM_001145472:exon21:c.2546-2A>G;NM_144612:exon38:c.5693-2A>G;NM_001145473:exon7:c.596-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2546-2A>G;ENST00000398722:exon32:c.5045-2A>G;ENST00000579038:exon19:c.2258-2A>G;ENST00000398705:exon7:c.596-2A>G;ENST00000441893:exon19:c.2492-2A>G;ENST00000536736:exon38:c.5693-2A>G;ENST00000582408:exon19:c.2360-2A>G;ENST00000398686:exon7:c.596-2A>G;ENST00000441551:exon37:c.5261-2A>G)	.	.	0.99994568797423	0.94
18	44069107	T	G	18	46489144	y	y	splicing	LOXHD1(NM_001173129:exon7:c.596-2A>C;NM_001145472:exon21:c.2546-2A>C;NM_144612:exon38:c.5693-2A>C;NM_001145473:exon7:c.596-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon21:c.2546-2A>C;ENST00000398722:exon32:c.5045-2A>C;ENST00000579038:exon19:c.2258-2A>C;ENST00000398705:exon7:c.596-2A>C;ENST00000441893:exon19:c.2492-2A>C;ENST00000536736:exon38:c.5693-2A>C;ENST00000582408:exon19:c.2360-2A>C;ENST00000398686:exon7:c.596-2A>C;ENST00000441551:exon37:c.5261-2A>C)	.	.	0.99994568797423	0.94
18	44069108	G	A	18	46489145	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00942160658498433	0.174
18	44069108	G	C	18	46489145	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999812289665552	0.88
18	44069108	G	T	18	46489145	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.930815403370834	0.506
18	44069109	T	A	18	46489146	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.52846931245531E-4	0.014
18	44069109	T	C	18	46489146	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.0832732595903E-5	0.008
18	44069109	T	G	18	46489146	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.41064555491124E-5	0.006
18	44069110	G	A	18	46489147	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.82542991385547E-5	0.004
18	44069110	G	C	18	46489147	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00574307420837384	0.09
18	44069110	G	T	18	46489147	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00274609276603955	0.084
18	44069111	G	A	18	46489148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.81630945707502E-5	0.022
18	44069111	G	C	18	46489148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0163124538906394	0.158
18	44069111	G	T	18	46489148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00684583476229165	0.126
18	44069112	A	C	18	46489149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.9647873671245E-5	0.088
18	44069112	A	G	18	46489149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.58897341033962E-5	0.0
18	44069112	A	T	18	46489149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.720885058479E-4	0.056
18	44069113	A	C	18	46489150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.68163612165904E-4	0.018
18	44069113	A	G	18	46489150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.37303897502703E-5	0.0
18	44069113	A	T	18	46489150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.93124746989324E-5	0.05
18	44069114	A	C	18	46489151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.24107470721105E-5	0.046
18	44069114	A	G	18	46489151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.31572667923033E-5	0.002
18	44069114	A	T	18	46489151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.2725661406409E-4	0.06
18	44069115	A	C	18	46489152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00299158186467753	0.194
18	44069115	A	G	18	46489152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.27035126846347E-5	0.012
18	44069115	A	T	18	46489152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00448492855242144	0.144
18	44069116	G	A	18	46489153	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.41183256710196E-5	0.0
18	44069116	G	C	18	46489153	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.30061434235462E-4	0.018
18	44069116	G	T	18	46489153	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.67221990497502E-4	0.058
18	44069117	A	C	18	46489154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00309974380633794	0.194
18	44069117	A	G	18	46489154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.54449572502197E-4	0.01
18	44069117	A	T	18	46489154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00235171841297966	0.222
18	44085793	G	A	18	46505830	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.74645592494213E-5	0.0
18	44085793	G	C	18	46505830	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.11008709238338E-4	0.012
18	44085793	G	T	18	46505830	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.90278179808111E-4	0.0
18	44085794	G	A	18	46505831	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.58897784718409E-4	0.048
18	44085794	G	C	18	46505831	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00124203498413235	0.006
18	44085794	G	T	18	46505831	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.85343296903698E-4	0.006
18	44085795	A	C	18	46505832	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.08971977162107E-5	0.088
18	44085795	A	G	18	46505832	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.85553548972673E-4	0.16
18	44085795	A	T	18	46505832	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00195464829929167	0.088
18	44085796	G	A	18	46505833	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.00194668392867E-4	0.0
18	44085796	G	C	18	46505833	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.42414144534896E-5	0.014
18	44085796	G	T	18	46505833	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.9895414968286E-5	0.004
18	44085797	C	A	18	46505834	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.83964388646821E-5	0.008
18	44085797	C	G	18	46505834	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.12497355046413E-4	0.072
18	44085797	C	T	18	46505834	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.89322551982584E-4	0.092
18	44085798	T	A	18	46505835	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999776337264724	0.896
18	44085798	T	C	18	46505835	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.643857445189694	0.508
18	44085798	T	G	18	46505835	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999698488107716	0.878
18	44085799	A	C	18	46505836	y	y	splicing	LOXHD1(NM_001173129:exon6:c.595+2T>G;NM_001145472:exon20:c.2545+2T>G;NM_144612:exon37:c.5692+2T>G;NM_001145473:exon6:c.595+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2545+2T>G;ENST00000398722:exon31:c.5044+2T>G;ENST00000579038:exon18:c.2257+2T>G;ENST00000398705:exon6:c.595+2T>G;ENST00000441893:exon18:c.2491+2T>G;ENST00000536736:exon37:c.5692+2T>G;ENST00000582408:exon18:c.2359+2T>G;ENST00000398686:exon6:c.595+2T>G;ENST00000441551:exon36:c.5260+2T>G)	.	.	0.999988247793601	0.928
18	44085799	A	G	18	46505836	y	y	splicing	LOXHD1(NM_001173129:exon6:c.595+2T>C;NM_001145472:exon20:c.2545+2T>C;NM_144612:exon37:c.5692+2T>C;NM_001145473:exon6:c.595+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2545+2T>C;ENST00000398722:exon31:c.5044+2T>C;ENST00000579038:exon18:c.2257+2T>C;ENST00000398705:exon6:c.595+2T>C;ENST00000441893:exon18:c.2491+2T>C;ENST00000536736:exon37:c.5692+2T>C;ENST00000582408:exon18:c.2359+2T>C;ENST00000398686:exon6:c.595+2T>C;ENST00000441551:exon36:c.5260+2T>C)	.	.	0.992783534660112	0.662
18	44085799	A	T	18	46505836	y	y	splicing	LOXHD1(NM_001173129:exon6:c.595+2T>A;NM_001145472:exon20:c.2545+2T>A;NM_144612:exon37:c.5692+2T>A;NM_001145473:exon6:c.595+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2545+2T>A;ENST00000398722:exon31:c.5044+2T>A;ENST00000579038:exon18:c.2257+2T>A;ENST00000398705:exon6:c.595+2T>A;ENST00000441893:exon18:c.2491+2T>A;ENST00000536736:exon37:c.5692+2T>A;ENST00000582408:exon18:c.2359+2T>A;ENST00000398686:exon6:c.595+2T>A;ENST00000441551:exon36:c.5260+2T>A)	.	.	0.999988247793601	0.928
18	44085800	C	A	18	46505837	y	y	splicing	LOXHD1(NM_001173129:exon6:c.595+1G>T;NM_001145472:exon20:c.2545+1G>T;NM_144612:exon37:c.5692+1G>T;NM_001145473:exon6:c.595+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2545+1G>T;ENST00000398722:exon31:c.5044+1G>T;ENST00000579038:exon18:c.2257+1G>T;ENST00000398705:exon6:c.595+1G>T;ENST00000441893:exon18:c.2491+1G>T;ENST00000536736:exon37:c.5692+1G>T;ENST00000582408:exon18:c.2359+1G>T;ENST00000398686:exon6:c.595+1G>T;ENST00000441551:exon36:c.5260+1G>T)	.	.	0.999985532734767	0.936
18	44085800	C	G	18	46505837	y	y	splicing	LOXHD1(NM_001173129:exon6:c.595+1G>C;NM_001145472:exon20:c.2545+1G>C;NM_144612:exon37:c.5692+1G>C;NM_001145473:exon6:c.595+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2545+1G>C;ENST00000398722:exon31:c.5044+1G>C;ENST00000579038:exon18:c.2257+1G>C;ENST00000398705:exon6:c.595+1G>C;ENST00000441893:exon18:c.2491+1G>C;ENST00000536736:exon37:c.5692+1G>C;ENST00000582408:exon18:c.2359+1G>C;ENST00000398686:exon6:c.595+1G>C;ENST00000441551:exon36:c.5260+1G>C)	.	.	0.999985532734767	0.936
18	44085800	C	T	18	46505837	y	y	splicing	LOXHD1(NM_001173129:exon6:c.595+1G>A;NM_001145472:exon20:c.2545+1G>A;NM_144612:exon37:c.5692+1G>A;NM_001145473:exon6:c.595+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2545+1G>A;ENST00000398722:exon31:c.5044+1G>A;ENST00000579038:exon18:c.2257+1G>A;ENST00000398705:exon6:c.595+1G>A;ENST00000441893:exon18:c.2491+1G>A;ENST00000536736:exon37:c.5692+1G>A;ENST00000582408:exon18:c.2359+1G>A;ENST00000398686:exon6:c.595+1G>A;ENST00000441551:exon36:c.5260+1G>A)	.	.	0.999985532734767	0.936
18	44085801	C	A	18	46505838	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.G5692T:p.G1898W;LOXHD1:NM_001173129:exon5:c.G595T:p.G199W;LOXHD1:NM_001145473:exon5:c.G595T:p.G199W;LOXHD1:NM_001145472:exon19:c.G2545T:p.G849W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.G5260T:p.G1754W;ENSG00000167210:ENST00000300591:exon19:c.G2545T:p.G849W;ENSG00000167210:ENST00000398705:exon5:c.G595T:p.G199W;ENSG00000167210:ENST00000398686:exon5:c.G595T:p.G199W;ENSG00000167210:ENST00000536736:exon36:c.G5692T:p.G1898W;ENSG00000167210:ENST00000441893:exon17:c.G2491T:p.G831W;ENSG00000167210:ENST00000398722:exon30:c.G5044T:p.G1682W;ENSG00000167210:ENST00000579038:exon17:c.G2257T:p.G753W;ENSG00000167210:ENST00000582408:exon17:c.G2359T:p.G787W;	0.999959177078316	0.974
18	44085801	C	G	18	46505838	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.G5692C:p.G1898R;LOXHD1:NM_001173129:exon5:c.G595C:p.G199R;LOXHD1:NM_001145473:exon5:c.G595C:p.G199R;LOXHD1:NM_001145472:exon19:c.G2545C:p.G849R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.G5260C:p.G1754R;ENSG00000167210:ENST00000300591:exon19:c.G2545C:p.G849R;ENSG00000167210:ENST00000398705:exon5:c.G595C:p.G199R;ENSG00000167210:ENST00000398686:exon5:c.G595C:p.G199R;ENSG00000167210:ENST00000536736:exon36:c.G5692C:p.G1898R;ENSG00000167210:ENST00000441893:exon17:c.G2491C:p.G831R;ENSG00000167210:ENST00000398722:exon30:c.G5044C:p.G1682R;ENSG00000167210:ENST00000579038:exon17:c.G2257C:p.G753R;ENSG00000167210:ENST00000582408:exon17:c.G2359C:p.G787R;	0.999997854079197	0.998
18	44085801	C	T	18	46505838	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.G5692A:p.G1898R;LOXHD1:NM_001173129:exon5:c.G595A:p.G199R;LOXHD1:NM_001145473:exon5:c.G595A:p.G199R;LOXHD1:NM_001145472:exon19:c.G2545A:p.G849R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.G5260A:p.G1754R;ENSG00000167210:ENST00000300591:exon19:c.G2545A:p.G849R;ENSG00000167210:ENST00000398705:exon5:c.G595A:p.G199R;ENSG00000167210:ENST00000398686:exon5:c.G595A:p.G199R;ENSG00000167210:ENST00000536736:exon36:c.G5692A:p.G1898R;ENSG00000167210:ENST00000441893:exon17:c.G2491A:p.G831R;ENSG00000167210:ENST00000398722:exon30:c.G5044A:p.G1682R;ENSG00000167210:ENST00000579038:exon17:c.G2257A:p.G753R;ENSG00000167210:ENST00000582408:exon17:c.G2359A:p.G787R;	0.999993631127246	1.0
18	44085802	T	A	18	46505839	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.A5691T:p.K1897N;LOXHD1:NM_001173129:exon5:c.A594T:p.K198N;LOXHD1:NM_001145473:exon5:c.A594T:p.K198N;LOXHD1:NM_001145472:exon19:c.A2544T:p.K848N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5259T:p.K1753N;ENSG00000167210:ENST00000300591:exon19:c.A2544T:p.K848N;ENSG00000167210:ENST00000398705:exon5:c.A594T:p.K198N;ENSG00000167210:ENST00000398686:exon5:c.A594T:p.K198N;ENSG00000167210:ENST00000536736:exon36:c.A5691T:p.K1897N;ENSG00000167210:ENST00000441893:exon17:c.A2490T:p.K830N;ENSG00000167210:ENST00000398722:exon30:c.A5043T:p.K1681N;ENSG00000167210:ENST00000579038:exon17:c.A2256T:p.K752N;ENSG00000167210:ENST00000582408:exon17:c.A2358T:p.K786N;	0.999957579880466	0.988
18	44085802	T	C	18	46505839	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon36:c.A5691G:p.K1897K;LOXHD1:NM_001173129:exon5:c.A594G:p.K198K;LOXHD1:NM_001145473:exon5:c.A594G:p.K198K;LOXHD1:NM_001145472:exon19:c.A2544G:p.K848K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5259G:p.K1753K;ENSG00000167210:ENST00000300591:exon19:c.A2544G:p.K848K;ENSG00000167210:ENST00000398705:exon5:c.A594G:p.K198K;ENSG00000167210:ENST00000398686:exon5:c.A594G:p.K198K;ENSG00000167210:ENST00000536736:exon36:c.A5691G:p.K1897K;ENSG00000167210:ENST00000441893:exon17:c.A2490G:p.K830K;ENSG00000167210:ENST00000398722:exon30:c.A5043G:p.K1681K;ENSG00000167210:ENST00000579038:exon17:c.A2256G:p.K752K;ENSG00000167210:ENST00000582408:exon17:c.A2358G:p.K786K;	0.999637848212311	0.982
18	44085802	T	G	18	46505839	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.A5691C:p.K1897N;LOXHD1:NM_001173129:exon5:c.A594C:p.K198N;LOXHD1:NM_001145473:exon5:c.A594C:p.K198N;LOXHD1:NM_001145472:exon19:c.A2544C:p.K848N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5259C:p.K1753N;ENSG00000167210:ENST00000300591:exon19:c.A2544C:p.K848N;ENSG00000167210:ENST00000398705:exon5:c.A594C:p.K198N;ENSG00000167210:ENST00000398686:exon5:c.A594C:p.K198N;ENSG00000167210:ENST00000536736:exon36:c.A5691C:p.K1897N;ENSG00000167210:ENST00000441893:exon17:c.A2490C:p.K830N;ENSG00000167210:ENST00000398722:exon30:c.A5043C:p.K1681N;ENSG00000167210:ENST00000579038:exon17:c.A2256C:p.K752N;ENSG00000167210:ENST00000582408:exon17:c.A2358C:p.K786N;	0.999831852579863	0.982
18	44085803	T	A	18	46505840	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.A5690T:p.K1897I;LOXHD1:NM_001173129:exon5:c.A593T:p.K198I;LOXHD1:NM_001145473:exon5:c.A593T:p.K198I;LOXHD1:NM_001145472:exon19:c.A2543T:p.K848I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5258T:p.K1753I;ENSG00000167210:ENST00000300591:exon19:c.A2543T:p.K848I;ENSG00000167210:ENST00000398705:exon5:c.A593T:p.K198I;ENSG00000167210:ENST00000398686:exon5:c.A593T:p.K198I;ENSG00000167210:ENST00000536736:exon36:c.A5690T:p.K1897I;ENSG00000167210:ENST00000441893:exon17:c.A2489T:p.K830I;ENSG00000167210:ENST00000398722:exon30:c.A5042T:p.K1681I;ENSG00000167210:ENST00000579038:exon17:c.A2255T:p.K752I;ENSG00000167210:ENST00000582408:exon17:c.A2357T:p.K786I;	0.976758354345045	0.712
18	44085803	T	C	18	46505840	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.A5690G:p.K1897R;LOXHD1:NM_001173129:exon5:c.A593G:p.K198R;LOXHD1:NM_001145473:exon5:c.A593G:p.K198R;LOXHD1:NM_001145472:exon19:c.A2543G:p.K848R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5258G:p.K1753R;ENSG00000167210:ENST00000300591:exon19:c.A2543G:p.K848R;ENSG00000167210:ENST00000398705:exon5:c.A593G:p.K198R;ENSG00000167210:ENST00000398686:exon5:c.A593G:p.K198R;ENSG00000167210:ENST00000536736:exon36:c.A5690G:p.K1897R;ENSG00000167210:ENST00000441893:exon17:c.A2489G:p.K830R;ENSG00000167210:ENST00000398722:exon30:c.A5042G:p.K1681R;ENSG00000167210:ENST00000579038:exon17:c.A2255G:p.K752R;ENSG00000167210:ENST00000582408:exon17:c.A2357G:p.K786R;	0.0140889157781447	0.254
18	44085803	T	G	18	46505840	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.A5690C:p.K1897T;LOXHD1:NM_001173129:exon5:c.A593C:p.K198T;LOXHD1:NM_001145473:exon5:c.A593C:p.K198T;LOXHD1:NM_001145472:exon19:c.A2543C:p.K848T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5258C:p.K1753T;ENSG00000167210:ENST00000300591:exon19:c.A2543C:p.K848T;ENSG00000167210:ENST00000398705:exon5:c.A593C:p.K198T;ENSG00000167210:ENST00000398686:exon5:c.A593C:p.K198T;ENSG00000167210:ENST00000536736:exon36:c.A5690C:p.K1897T;ENSG00000167210:ENST00000441893:exon17:c.A2489C:p.K830T;ENSG00000167210:ENST00000398722:exon30:c.A5042C:p.K1681T;ENSG00000167210:ENST00000579038:exon17:c.A2255C:p.K752T;ENSG00000167210:ENST00000582408:exon17:c.A2357C:p.K786T;	0.00350332061582764	0.026
18	44085985	T	A	18	46506022	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon36:c.A5508T:p.G1836G;LOXHD1:NM_001173129:exon5:c.A411T:p.G137G;LOXHD1:NM_001145473:exon5:c.A411T:p.G137G;LOXHD1:NM_001145472:exon19:c.A2361T:p.G787G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5076T:p.G1692G;ENSG00000167210:ENST00000300591:exon19:c.A2361T:p.G787G;ENSG00000167210:ENST00000398705:exon5:c.A411T:p.G137G;ENSG00000167210:ENST00000398686:exon5:c.A411T:p.G137G;ENSG00000167210:ENST00000414184:exon5:c.A411T:p.G137G;ENSG00000167210:ENST00000536736:exon36:c.A5508T:p.G1836G;ENSG00000167210:ENST00000441893:exon17:c.A2307T:p.G769G;ENSG00000167210:ENST00000398722:exon30:c.A4860T:p.G1620G;ENSG00000167210:ENST00000579038:exon17:c.A2073T:p.G691G;ENSG00000167210:ENST00000582408:exon17:c.A2175T:p.G725G;	2.01838851566832E-4	0.01
18	44085985	T	C	18	46506022	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon36:c.A5508G:p.G1836G;LOXHD1:NM_001173129:exon5:c.A411G:p.G137G;LOXHD1:NM_001145473:exon5:c.A411G:p.G137G;LOXHD1:NM_001145472:exon19:c.A2361G:p.G787G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5076G:p.G1692G;ENSG00000167210:ENST00000300591:exon19:c.A2361G:p.G787G;ENSG00000167210:ENST00000398705:exon5:c.A411G:p.G137G;ENSG00000167210:ENST00000398686:exon5:c.A411G:p.G137G;ENSG00000167210:ENST00000414184:exon5:c.A411G:p.G137G;ENSG00000167210:ENST00000536736:exon36:c.A5508G:p.G1836G;ENSG00000167210:ENST00000441893:exon17:c.A2307G:p.G769G;ENSG00000167210:ENST00000398722:exon30:c.A4860G:p.G1620G;ENSG00000167210:ENST00000579038:exon17:c.A2073G:p.G691G;ENSG00000167210:ENST00000582408:exon17:c.A2175G:p.G725G;	2.541214418713E-4	0.006
18	44085985	T	G	18	46506022	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon36:c.A5508C:p.G1836G;LOXHD1:NM_001173129:exon5:c.A411C:p.G137G;LOXHD1:NM_001145473:exon5:c.A411C:p.G137G;LOXHD1:NM_001145472:exon19:c.A2361C:p.G787G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.A5076C:p.G1692G;ENSG00000167210:ENST00000300591:exon19:c.A2361C:p.G787G;ENSG00000167210:ENST00000398705:exon5:c.A411C:p.G137G;ENSG00000167210:ENST00000398686:exon5:c.A411C:p.G137G;ENSG00000167210:ENST00000414184:exon5:c.A411C:p.G137G;ENSG00000167210:ENST00000536736:exon36:c.A5508C:p.G1836G;ENSG00000167210:ENST00000441893:exon17:c.A2307C:p.G769G;ENSG00000167210:ENST00000398722:exon30:c.A4860C:p.G1620G;ENSG00000167210:ENST00000579038:exon17:c.A2073C:p.G691G;ENSG00000167210:ENST00000582408:exon17:c.A2175C:p.G725G;	6.7417080684228E-5	0.01
18	44085986	C	A	18	46506023	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.G5507T:p.G1836V;LOXHD1:NM_001173129:exon5:c.G410T:p.G137V;LOXHD1:NM_001145473:exon5:c.G410T:p.G137V;LOXHD1:NM_001145472:exon19:c.G2360T:p.G787V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.G5075T:p.G1692V;ENSG00000167210:ENST00000300591:exon19:c.G2360T:p.G787V;ENSG00000167210:ENST00000398705:exon5:c.G410T:p.G137V;ENSG00000167210:ENST00000398686:exon5:c.G410T:p.G137V;ENSG00000167210:ENST00000414184:exon5:c.G410T:p.G137V;ENSG00000167210:ENST00000536736:exon36:c.G5507T:p.G1836V;ENSG00000167210:ENST00000441893:exon17:c.G2306T:p.G769V;ENSG00000167210:ENST00000398722:exon30:c.G4859T:p.G1620V;ENSG00000167210:ENST00000579038:exon17:c.G2072T:p.G691V;ENSG00000167210:ENST00000582408:exon17:c.G2174T:p.G725V;	0.999518993715922	0.988
18	44085986	C	G	18	46506023	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.G5507C:p.G1836A;LOXHD1:NM_001173129:exon5:c.G410C:p.G137A;LOXHD1:NM_001145473:exon5:c.G410C:p.G137A;LOXHD1:NM_001145472:exon19:c.G2360C:p.G787A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.G5075C:p.G1692A;ENSG00000167210:ENST00000300591:exon19:c.G2360C:p.G787A;ENSG00000167210:ENST00000398705:exon5:c.G410C:p.G137A;ENSG00000167210:ENST00000398686:exon5:c.G410C:p.G137A;ENSG00000167210:ENST00000414184:exon5:c.G410C:p.G137A;ENSG00000167210:ENST00000536736:exon36:c.G5507C:p.G1836A;ENSG00000167210:ENST00000441893:exon17:c.G2306C:p.G769A;ENSG00000167210:ENST00000398722:exon30:c.G4859C:p.G1620A;ENSG00000167210:ENST00000579038:exon17:c.G2072C:p.G691A;ENSG00000167210:ENST00000582408:exon17:c.G2174C:p.G725A;	0.999107762170817	0.952
18	44085986	C	T	18	46506023	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon36:c.G5507A:p.G1836E;LOXHD1:NM_001173129:exon5:c.G410A:p.G137E;LOXHD1:NM_001145473:exon5:c.G410A:p.G137E;LOXHD1:NM_001145472:exon19:c.G2360A:p.G787E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon35:c.G5075A:p.G1692E;ENSG00000167210:ENST00000300591:exon19:c.G2360A:p.G787E;ENSG00000167210:ENST00000398705:exon5:c.G410A:p.G137E;ENSG00000167210:ENST00000398686:exon5:c.G410A:p.G137E;ENSG00000167210:ENST00000414184:exon5:c.G410A:p.G137E;ENSG00000167210:ENST00000536736:exon36:c.G5507A:p.G1836E;ENSG00000167210:ENST00000441893:exon17:c.G2306A:p.G769E;ENSG00000167210:ENST00000398722:exon30:c.G4859A:p.G1620E;ENSG00000167210:ENST00000579038:exon17:c.G2072A:p.G691E;ENSG00000167210:ENST00000582408:exon17:c.G2174A:p.G725E;	0.999476662941864	0.934
18	44085987	C	A	18	46506024	y	y	splicing	LOXHD1(NM_001173129:exon6:c.410-1G>T;NM_001145472:exon20:c.2360-1G>T;NM_144612:exon37:c.5507-1G>T;NM_001145473:exon6:c.410-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2360-1G>T;ENST00000398722:exon31:c.4859-1G>T;ENST00000579038:exon18:c.2072-1G>T;ENST00000398705:exon6:c.410-1G>T;ENST00000441893:exon18:c.2306-1G>T;ENST00000536736:exon37:c.5507-1G>T;ENST00000582408:exon18:c.2174-1G>T;ENST00000398686:exon6:c.410-1G>T;ENST00000441551:exon36:c.5075-1G>T;ENST00000414184:exon6:c.410-1G>T)	.	.	0.999985532734767	0.95
18	44085987	C	G	18	46506024	y	y	splicing	LOXHD1(NM_001173129:exon6:c.410-1G>C;NM_001145472:exon20:c.2360-1G>C;NM_144612:exon37:c.5507-1G>C;NM_001145473:exon6:c.410-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2360-1G>C;ENST00000398722:exon31:c.4859-1G>C;ENST00000579038:exon18:c.2072-1G>C;ENST00000398705:exon6:c.410-1G>C;ENST00000441893:exon18:c.2306-1G>C;ENST00000536736:exon37:c.5507-1G>C;ENST00000582408:exon18:c.2174-1G>C;ENST00000398686:exon6:c.410-1G>C;ENST00000441551:exon36:c.5075-1G>C;ENST00000414184:exon6:c.410-1G>C)	.	.	0.999985532734767	0.95
18	44085987	C	T	18	46506024	y	y	splicing	LOXHD1(NM_001173129:exon6:c.410-1G>A;NM_001145472:exon20:c.2360-1G>A;NM_144612:exon37:c.5507-1G>A;NM_001145473:exon6:c.410-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2360-1G>A;ENST00000398722:exon31:c.4859-1G>A;ENST00000579038:exon18:c.2072-1G>A;ENST00000398705:exon6:c.410-1G>A;ENST00000441893:exon18:c.2306-1G>A;ENST00000536736:exon37:c.5507-1G>A;ENST00000582408:exon18:c.2174-1G>A;ENST00000398686:exon6:c.410-1G>A;ENST00000441551:exon36:c.5075-1G>A;ENST00000414184:exon6:c.410-1G>A)	.	.	0.999985532734767	0.95
18	44085988	T	A	18	46506025	y	y	splicing	LOXHD1(NM_001173129:exon6:c.410-2A>T;NM_001145472:exon20:c.2360-2A>T;NM_144612:exon37:c.5507-2A>T;NM_001145473:exon6:c.410-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2360-2A>T;ENST00000398722:exon31:c.4859-2A>T;ENST00000579038:exon18:c.2072-2A>T;ENST00000398705:exon6:c.410-2A>T;ENST00000441893:exon18:c.2306-2A>T;ENST00000536736:exon37:c.5507-2A>T;ENST00000582408:exon18:c.2174-2A>T;ENST00000398686:exon6:c.410-2A>T;ENST00000441551:exon36:c.5075-2A>T;ENST00000414184:exon6:c.410-2A>T)	.	.	0.999988247793601	0.952
18	44085988	T	C	18	46506025	y	y	splicing	LOXHD1(NM_001173129:exon6:c.410-2A>G;NM_001145472:exon20:c.2360-2A>G;NM_144612:exon37:c.5507-2A>G;NM_001145473:exon6:c.410-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2360-2A>G;ENST00000398722:exon31:c.4859-2A>G;ENST00000579038:exon18:c.2072-2A>G;ENST00000398705:exon6:c.410-2A>G;ENST00000441893:exon18:c.2306-2A>G;ENST00000536736:exon37:c.5507-2A>G;ENST00000582408:exon18:c.2174-2A>G;ENST00000398686:exon6:c.410-2A>G;ENST00000441551:exon36:c.5075-2A>G;ENST00000414184:exon6:c.410-2A>G)	.	.	0.999988247793601	0.952
18	44085988	T	G	18	46506025	y	y	splicing	LOXHD1(NM_001173129:exon6:c.410-2A>C;NM_001145472:exon20:c.2360-2A>C;NM_144612:exon37:c.5507-2A>C;NM_001145473:exon6:c.410-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon20:c.2360-2A>C;ENST00000398722:exon31:c.4859-2A>C;ENST00000579038:exon18:c.2072-2A>C;ENST00000398705:exon6:c.410-2A>C;ENST00000441893:exon18:c.2306-2A>C;ENST00000536736:exon37:c.5507-2A>C;ENST00000582408:exon18:c.2174-2A>C;ENST00000398686:exon6:c.410-2A>C;ENST00000441551:exon36:c.5075-2A>C;ENST00000414184:exon6:c.410-2A>C)	.	.	0.999988247793601	0.952
18	44085989	G	A	18	46506026	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.91296713281259E-4	0.1
18	44085989	G	C	18	46506026	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99994543476643	0.91
18	44085989	G	T	18	46506026	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.990048774016864	0.704
18	44085990	G	A	18	46506027	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.10750064795462E-4	0.046
18	44085990	G	C	18	46506027	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.41673928380231E-5	0.0
18	44085990	G	T	18	46506027	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.09195629342826E-5	0.014
18	44085991	G	A	18	46506028	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.81186340145587E-5	0.0
18	44085991	G	C	18	46506028	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0145314677344586	0.092
18	44085991	G	T	18	46506028	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00368592102590143	0.082
18	44085992	G	A	18	46506029	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00253182774541781	0.092
18	44085992	G	C	18	46506029	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.683867612655439	0.5
18	44085992	G	T	18	46506029	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.673207674316341	0.496
18	44085993	G	A	18	46506030	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.34500123250271E-4	0.018
18	44085993	G	C	18	46506030	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0134277966865828	0.184
18	44085993	G	T	18	46506030	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.004084956594251	0.154
18	44085994	G	A	18	46506031	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.28929880306551E-5	0.006
18	44085994	G	C	18	46506031	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999960575237708	0.916
18	44085994	G	T	18	46506031	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.28964861182714E-4	0.128
18	44085995	T	A	18	46506032	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.83986755184618E-4	0.034
18	44085995	T	C	18	46506032	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.85469540034467E-4	0.022
18	44085995	T	G	18	46506032	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.03402727790191E-4	0.012
18	44085996	G	A	18	46506033	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.06481237244302E-5	0.0
18	44085996	G	C	18	46506033	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.03009543975642E-4	0.014
18	44085996	G	T	18	46506033	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.63240145637235E-4	0.016
18	44085997	C	A	18	46506034	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.75593525308314E-5	0.002
18	44085997	C	G	18	46506034	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.77684834496483E-5	0.0
18	44085997	C	T	18	46506034	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.33943891265697E-4	0.01
18	44085998	A	C	18	46506035	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.206693753921744	0.358
18	44085998	A	G	18	46506035	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.81846488031374E-5	0.038
18	44085998	A	T	18	46506035	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999852833682376	0.966
18	44087493	C	A	18	46507530	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.49670331258397E-6	0.0
18	44087493	C	G	18	46507530	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.49670331258397E-6	0.0
18	44087493	C	T	18	46507530	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.49670331258397E-6	0.0
18	44087494	G	A	18	46507531	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.89588860652699E-4	0.026
18	44087494	G	C	18	46507531	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.21313273413941E-4	0.026
18	44087494	G	T	18	46507531	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.26569577813692E-5	0.0
18	44087495	A	C	18	46507532	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.988108880343665	0.672
18	44087495	A	G	18	46507532	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0755691386368495	0.486
18	44087495	A	T	18	46507532	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995947524405059	0.626
18	44087496	C	A	18	46507533	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99998227345838	0.98
18	44087496	C	G	18	46507533	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999981805454882	0.984
18	44087496	C	T	18	46507533	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99998555106348	0.998
18	44087497	C	A	18	46507534	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.50297572762795E-5	0.008
18	44087497	C	G	18	46507534	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.27637188594752E-5	0.108
18	44087497	C	T	18	46507534	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.95012994714293E-5	0.02
18	44087498	C	A	18	46507535	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.953979702420955	0.636
18	44087498	C	G	18	46507535	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.946714515743866	0.64
18	44087498	C	T	18	46507535	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.13919687955074E-4	0.146
18	44087499	A	C	18	46507536	y	y	splicing	LOXHD1(NM_001173129:exon5:c.409+2T>G;NM_001145472:exon19:c.2359+2T>G;NM_144612:exon36:c.5506+2T>G;NM_001145473:exon5:c.409+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2359+2T>G;ENST00000398722:exon30:c.4858+2T>G;ENST00000579038:exon17:c.2071+2T>G;ENST00000398705:exon5:c.409+2T>G;ENST00000441893:exon17:c.2305+2T>G;ENST00000536736:exon36:c.5506+2T>G;ENST00000582408:exon17:c.2173+2T>G;ENST00000398686:exon5:c.409+2T>G;ENST00000441551:exon35:c.5074+2T>G;ENST00000414184:exon5:c.409+2T>G)	.	.	0.99993872479901	0.944
18	44087499	A	G	18	46507536	y	y	splicing	LOXHD1(NM_001173129:exon5:c.409+2T>C;NM_001145472:exon19:c.2359+2T>C;NM_144612:exon36:c.5506+2T>C;NM_001145473:exon5:c.409+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2359+2T>C;ENST00000398722:exon30:c.4858+2T>C;ENST00000579038:exon17:c.2071+2T>C;ENST00000398705:exon5:c.409+2T>C;ENST00000441893:exon17:c.2305+2T>C;ENST00000536736:exon36:c.5506+2T>C;ENST00000582408:exon17:c.2173+2T>C;ENST00000398686:exon5:c.409+2T>C;ENST00000441551:exon35:c.5074+2T>C;ENST00000414184:exon5:c.409+2T>C)	.	.	0.99963293524022	0.946
18	44087499	A	T	18	46507536	y	y	splicing	LOXHD1(NM_001173129:exon5:c.409+2T>A;NM_001145472:exon19:c.2359+2T>A;NM_144612:exon36:c.5506+2T>A;NM_001145473:exon5:c.409+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2359+2T>A;ENST00000398722:exon30:c.4858+2T>A;ENST00000579038:exon17:c.2071+2T>A;ENST00000398705:exon5:c.409+2T>A;ENST00000441893:exon17:c.2305+2T>A;ENST00000536736:exon36:c.5506+2T>A;ENST00000582408:exon17:c.2173+2T>A;ENST00000398686:exon5:c.409+2T>A;ENST00000441551:exon35:c.5074+2T>A;ENST00000414184:exon5:c.409+2T>A)	.	.	0.99993872479901	0.93
18	44087500	C	A	18	46507537	y	y	splicing	LOXHD1(NM_001173129:exon5:c.409+1G>T;NM_001145472:exon19:c.2359+1G>T;NM_144612:exon36:c.5506+1G>T;NM_001145473:exon5:c.409+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2359+1G>T;ENST00000398722:exon30:c.4858+1G>T;ENST00000579038:exon17:c.2071+1G>T;ENST00000398705:exon5:c.409+1G>T;ENST00000441893:exon17:c.2305+1G>T;ENST00000536736:exon36:c.5506+1G>T;ENST00000582408:exon17:c.2173+1G>T;ENST00000398686:exon5:c.409+1G>T;ENST00000441551:exon35:c.5074+1G>T;ENST00000414184:exon5:c.409+1G>T)	.	.	0.999930528371628	0.928
18	44087500	C	G	18	46507537	y	y	splicing	LOXHD1(NM_001173129:exon5:c.409+1G>C;NM_001145472:exon19:c.2359+1G>C;NM_144612:exon36:c.5506+1G>C;NM_001145473:exon5:c.409+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2359+1G>C;ENST00000398722:exon30:c.4858+1G>C;ENST00000579038:exon17:c.2071+1G>C;ENST00000398705:exon5:c.409+1G>C;ENST00000441893:exon17:c.2305+1G>C;ENST00000536736:exon36:c.5506+1G>C;ENST00000582408:exon17:c.2173+1G>C;ENST00000398686:exon5:c.409+1G>C;ENST00000441551:exon35:c.5074+1G>C;ENST00000414184:exon5:c.409+1G>C)	.	.	0.999930528371628	0.926
18	44087500	C	T	18	46507537	y	y	splicing	LOXHD1(NM_001173129:exon5:c.409+1G>A;NM_001145472:exon19:c.2359+1G>A;NM_144612:exon36:c.5506+1G>A;NM_001145473:exon5:c.409+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2359+1G>A;ENST00000398722:exon30:c.4858+1G>A;ENST00000579038:exon17:c.2071+1G>A;ENST00000398705:exon5:c.409+1G>A;ENST00000441893:exon17:c.2305+1G>A;ENST00000536736:exon36:c.5506+1G>A;ENST00000582408:exon17:c.2173+1G>A;ENST00000398686:exon5:c.409+1G>A;ENST00000441551:exon35:c.5074+1G>A;ENST00000414184:exon5:c.409+1G>A)	.	.	0.999973077603061	0.928
18	44087501	C	A	18	46507538	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon35:c.G5506T:p.G1836X;LOXHD1:NM_001173129:exon4:c.G409T:p.G137X;LOXHD1:NM_001145473:exon4:c.G409T:p.G137X;LOXHD1:NM_001145472:exon18:c.G2359T:p.G787X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon34:c.G5074T:p.G1692X;ENSG00000167210:ENST00000300591:exon18:c.G2359T:p.G787X;ENSG00000167210:ENST00000398705:exon4:c.G409T:p.G137X;ENSG00000167210:ENST00000398686:exon4:c.G409T:p.G137X;ENSG00000167210:ENST00000414184:exon4:c.G409T:p.G137X;ENSG00000167210:ENST00000536736:exon35:c.G5506T:p.G1836X;ENSG00000167210:ENST00000441893:exon16:c.G2305T:p.G769X;ENSG00000167210:ENST00000398722:exon29:c.G4858T:p.G1620X;ENSG00000167210:ENST00000579038:exon16:c.G2071T:p.G691X;ENSG00000167210:ENST00000582408:exon16:c.G2173T:p.G725X;	0.999991844814394	0.922
18	44087501	C	G	18	46507538	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.G5506C:p.G1836R;LOXHD1:NM_001173129:exon4:c.G409C:p.G137R;LOXHD1:NM_001145473:exon4:c.G409C:p.G137R;LOXHD1:NM_001145472:exon18:c.G2359C:p.G787R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.G5074C:p.G1692R;ENSG00000167210:ENST00000300591:exon18:c.G2359C:p.G787R;ENSG00000167210:ENST00000398705:exon4:c.G409C:p.G137R;ENSG00000167210:ENST00000398686:exon4:c.G409C:p.G137R;ENSG00000167210:ENST00000414184:exon4:c.G409C:p.G137R;ENSG00000167210:ENST00000536736:exon35:c.G5506C:p.G1836R;ENSG00000167210:ENST00000441893:exon16:c.G2305C:p.G769R;ENSG00000167210:ENST00000398722:exon29:c.G4858C:p.G1620R;ENSG00000167210:ENST00000579038:exon16:c.G2071C:p.G691R;ENSG00000167210:ENST00000582408:exon16:c.G2173C:p.G725R;	0.999992667693306	0.998
18	44087501	C	T	18	46507538	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.G5506A:p.G1836R;LOXHD1:NM_001173129:exon4:c.G409A:p.G137R;LOXHD1:NM_001145473:exon4:c.G409A:p.G137R;LOXHD1:NM_001145472:exon18:c.G2359A:p.G787R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.G5074A:p.G1692R;ENSG00000167210:ENST00000300591:exon18:c.G2359A:p.G787R;ENSG00000167210:ENST00000398705:exon4:c.G409A:p.G137R;ENSG00000167210:ENST00000398686:exon4:c.G409A:p.G137R;ENSG00000167210:ENST00000414184:exon4:c.G409A:p.G137R;ENSG00000167210:ENST00000536736:exon35:c.G5506A:p.G1836R;ENSG00000167210:ENST00000441893:exon16:c.G2305A:p.G769R;ENSG00000167210:ENST00000398722:exon29:c.G4858A:p.G1620R;ENSG00000167210:ENST00000579038:exon16:c.G2071A:p.G691R;ENSG00000167210:ENST00000582408:exon16:c.G2173A:p.G725R;	0.99999068040223	0.992
18	44087502	C	A	18	46507539	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon35:c.G5505T:p.L1835L;LOXHD1:NM_001173129:exon4:c.G408T:p.L136L;LOXHD1:NM_001145473:exon4:c.G408T:p.L136L;LOXHD1:NM_001145472:exon18:c.G2358T:p.L786L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.G5073T:p.L1691L;ENSG00000167210:ENST00000300591:exon18:c.G2358T:p.L786L;ENSG00000167210:ENST00000398705:exon4:c.G408T:p.L136L;ENSG00000167210:ENST00000398686:exon4:c.G408T:p.L136L;ENSG00000167210:ENST00000414184:exon4:c.G408T:p.L136L;ENSG00000167210:ENST00000536736:exon35:c.G5505T:p.L1835L;ENSG00000167210:ENST00000441893:exon16:c.G2304T:p.L768L;ENSG00000167210:ENST00000398722:exon29:c.G4857T:p.L1619L;ENSG00000167210:ENST00000579038:exon16:c.G2070T:p.L690L;ENSG00000167210:ENST00000582408:exon16:c.G2172T:p.L724L;	2.77127361751046E-4	0.14
18	44087502	C	G	18	46507539	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon35:c.G5505C:p.L1835L;LOXHD1:NM_001173129:exon4:c.G408C:p.L136L;LOXHD1:NM_001145473:exon4:c.G408C:p.L136L;LOXHD1:NM_001145472:exon18:c.G2358C:p.L786L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.G5073C:p.L1691L;ENSG00000167210:ENST00000300591:exon18:c.G2358C:p.L786L;ENSG00000167210:ENST00000398705:exon4:c.G408C:p.L136L;ENSG00000167210:ENST00000398686:exon4:c.G408C:p.L136L;ENSG00000167210:ENST00000414184:exon4:c.G408C:p.L136L;ENSG00000167210:ENST00000536736:exon35:c.G5505C:p.L1835L;ENSG00000167210:ENST00000441893:exon16:c.G2304C:p.L768L;ENSG00000167210:ENST00000398722:exon29:c.G4857C:p.L1619L;ENSG00000167210:ENST00000579038:exon16:c.G2070C:p.L690L;ENSG00000167210:ENST00000582408:exon16:c.G2172C:p.L724L;	3.64055222403016E-4	0.06
18	44087502	C	T	18	46507539	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon35:c.G5505A:p.L1835L;LOXHD1:NM_001173129:exon4:c.G408A:p.L136L;LOXHD1:NM_001145473:exon4:c.G408A:p.L136L;LOXHD1:NM_001145472:exon18:c.G2358A:p.L786L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.G5073A:p.L1691L;ENSG00000167210:ENST00000300591:exon18:c.G2358A:p.L786L;ENSG00000167210:ENST00000398705:exon4:c.G408A:p.L136L;ENSG00000167210:ENST00000398686:exon4:c.G408A:p.L136L;ENSG00000167210:ENST00000414184:exon4:c.G408A:p.L136L;ENSG00000167210:ENST00000536736:exon35:c.G5505A:p.L1835L;ENSG00000167210:ENST00000441893:exon16:c.G2304A:p.L768L;ENSG00000167210:ENST00000398722:exon29:c.G4857A:p.L1619L;ENSG00000167210:ENST00000579038:exon16:c.G2070A:p.L690L;ENSG00000167210:ENST00000582408:exon16:c.G2172A:p.L724L;	6.9089835601624E-4	0.176
18	44087503	A	C	18	46507540	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.T5504G:p.L1835R;LOXHD1:NM_001173129:exon4:c.T407G:p.L136R;LOXHD1:NM_001145473:exon4:c.T407G:p.L136R;LOXHD1:NM_001145472:exon18:c.T2357G:p.L786R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.T5072G:p.L1691R;ENSG00000167210:ENST00000300591:exon18:c.T2357G:p.L786R;ENSG00000167210:ENST00000398705:exon4:c.T407G:p.L136R;ENSG00000167210:ENST00000398686:exon4:c.T407G:p.L136R;ENSG00000167210:ENST00000414184:exon4:c.T407G:p.L136R;ENSG00000167210:ENST00000536736:exon35:c.T5504G:p.L1835R;ENSG00000167210:ENST00000441893:exon16:c.T2303G:p.L768R;ENSG00000167210:ENST00000398722:exon29:c.T4856G:p.L1619R;ENSG00000167210:ENST00000579038:exon16:c.T2069G:p.L690R;ENSG00000167210:ENST00000582408:exon16:c.T2171G:p.L724R;	0.00731764196295713	0.096
18	44087503	A	G	18	46507540	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.T5504C:p.L1835P;LOXHD1:NM_001173129:exon4:c.T407C:p.L136P;LOXHD1:NM_001145473:exon4:c.T407C:p.L136P;LOXHD1:NM_001145472:exon18:c.T2357C:p.L786P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.T5072C:p.L1691P;ENSG00000167210:ENST00000300591:exon18:c.T2357C:p.L786P;ENSG00000167210:ENST00000398705:exon4:c.T407C:p.L136P;ENSG00000167210:ENST00000398686:exon4:c.T407C:p.L136P;ENSG00000167210:ENST00000414184:exon4:c.T407C:p.L136P;ENSG00000167210:ENST00000536736:exon35:c.T5504C:p.L1835P;ENSG00000167210:ENST00000441893:exon16:c.T2303C:p.L768P;ENSG00000167210:ENST00000398722:exon29:c.T4856C:p.L1619P;ENSG00000167210:ENST00000579038:exon16:c.T2069C:p.L690P;ENSG00000167210:ENST00000582408:exon16:c.T2171C:p.L724P;	4.95069940025503E-4	0.034
18	44087503	A	T	18	46507540	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.T5504A:p.L1835Q;LOXHD1:NM_001173129:exon4:c.T407A:p.L136Q;LOXHD1:NM_001145473:exon4:c.T407A:p.L136Q;LOXHD1:NM_001145472:exon18:c.T2357A:p.L786Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.T5072A:p.L1691Q;ENSG00000167210:ENST00000300591:exon18:c.T2357A:p.L786Q;ENSG00000167210:ENST00000398705:exon4:c.T407A:p.L136Q;ENSG00000167210:ENST00000398686:exon4:c.T407A:p.L136Q;ENSG00000167210:ENST00000414184:exon4:c.T407A:p.L136Q;ENSG00000167210:ENST00000536736:exon35:c.T5504A:p.L1835Q;ENSG00000167210:ENST00000441893:exon16:c.T2303A:p.L768Q;ENSG00000167210:ENST00000398722:exon29:c.T4856A:p.L1619Q;ENSG00000167210:ENST00000579038:exon16:c.T2069A:p.L690Q;ENSG00000167210:ENST00000582408:exon16:c.T2171A:p.L724Q;	6.1623146115425E-4	0.03
18	44087674	A	C	18	46507711	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.T5333G:p.I1778S;LOXHD1:NM_001173129:exon4:c.T236G:p.I79S;LOXHD1:NM_001145473:exon4:c.T236G:p.I79S;LOXHD1:NM_001145472:exon18:c.T2186G:p.I729S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.T4901G:p.I1634S;ENSG00000167210:ENST00000300591:exon18:c.T2186G:p.I729S;ENSG00000167210:ENST00000398705:exon4:c.T236G:p.I79S;ENSG00000167210:ENST00000398686:exon4:c.T236G:p.I79S;ENSG00000167210:ENST00000414184:exon4:c.T236G:p.I79S;ENSG00000167210:ENST00000536736:exon35:c.T5333G:p.I1778S;ENSG00000167210:ENST00000441893:exon16:c.T2132G:p.I711S;ENSG00000167210:ENST00000398722:exon29:c.T4685G:p.I1562S;ENSG00000167210:ENST00000579038:exon16:c.T1898G:p.I633S;ENSG00000167210:ENST00000582408:exon16:c.T2000G:p.I667S;	0.00847129668504088	0.156
18	44087674	A	G	18	46507711	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.T5333C:p.I1778T;LOXHD1:NM_001173129:exon4:c.T236C:p.I79T;LOXHD1:NM_001145473:exon4:c.T236C:p.I79T;LOXHD1:NM_001145472:exon18:c.T2186C:p.I729T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.T4901C:p.I1634T;ENSG00000167210:ENST00000300591:exon18:c.T2186C:p.I729T;ENSG00000167210:ENST00000398705:exon4:c.T236C:p.I79T;ENSG00000167210:ENST00000398686:exon4:c.T236C:p.I79T;ENSG00000167210:ENST00000414184:exon4:c.T236C:p.I79T;ENSG00000167210:ENST00000536736:exon35:c.T5333C:p.I1778T;ENSG00000167210:ENST00000441893:exon16:c.T2132C:p.I711T;ENSG00000167210:ENST00000398722:exon29:c.T4685C:p.I1562T;ENSG00000167210:ENST00000579038:exon16:c.T1898C:p.I633T;ENSG00000167210:ENST00000582408:exon16:c.T2000C:p.I667T;	0.00485654740792324	0.11
18	44087674	A	T	18	46507711	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.T5333A:p.I1778N;LOXHD1:NM_001173129:exon4:c.T236A:p.I79N;LOXHD1:NM_001145473:exon4:c.T236A:p.I79N;LOXHD1:NM_001145472:exon18:c.T2186A:p.I729N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.T4901A:p.I1634N;ENSG00000167210:ENST00000300591:exon18:c.T2186A:p.I729N;ENSG00000167210:ENST00000398705:exon4:c.T236A:p.I79N;ENSG00000167210:ENST00000398686:exon4:c.T236A:p.I79N;ENSG00000167210:ENST00000414184:exon4:c.T236A:p.I79N;ENSG00000167210:ENST00000536736:exon35:c.T5333A:p.I1778N;ENSG00000167210:ENST00000441893:exon16:c.T2132A:p.I711N;ENSG00000167210:ENST00000398722:exon29:c.T4685A:p.I1562N;ENSG00000167210:ENST00000579038:exon16:c.T1898A:p.I633N;ENSG00000167210:ENST00000582408:exon16:c.T2000A:p.I667N;	0.0146611142594327	0.166
18	44087675	T	A	18	46507712	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.A5332T:p.I1778F;LOXHD1:NM_001173129:exon4:c.A235T:p.I79F;LOXHD1:NM_001145473:exon4:c.A235T:p.I79F;LOXHD1:NM_001145472:exon18:c.A2185T:p.I729F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.A4900T:p.I1634F;ENSG00000167210:ENST00000300591:exon18:c.A2185T:p.I729F;ENSG00000167210:ENST00000398705:exon4:c.A235T:p.I79F;ENSG00000167210:ENST00000398686:exon4:c.A235T:p.I79F;ENSG00000167210:ENST00000414184:exon4:c.A235T:p.I79F;ENSG00000167210:ENST00000536736:exon35:c.A5332T:p.I1778F;ENSG00000167210:ENST00000441893:exon16:c.A2131T:p.I711F;ENSG00000167210:ENST00000398722:exon29:c.A4684T:p.I1562F;ENSG00000167210:ENST00000579038:exon16:c.A1897T:p.I633F;ENSG00000167210:ENST00000582408:exon16:c.A1999T:p.I667F;	0.00881393687521942	0.168
18	44087675	T	C	18	46507712	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.A5332G:p.I1778V;LOXHD1:NM_001173129:exon4:c.A235G:p.I79V;LOXHD1:NM_001145473:exon4:c.A235G:p.I79V;LOXHD1:NM_001145472:exon18:c.A2185G:p.I729V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.A4900G:p.I1634V;ENSG00000167210:ENST00000300591:exon18:c.A2185G:p.I729V;ENSG00000167210:ENST00000398705:exon4:c.A235G:p.I79V;ENSG00000167210:ENST00000398686:exon4:c.A235G:p.I79V;ENSG00000167210:ENST00000414184:exon4:c.A235G:p.I79V;ENSG00000167210:ENST00000536736:exon35:c.A5332G:p.I1778V;ENSG00000167210:ENST00000441893:exon16:c.A2131G:p.I711V;ENSG00000167210:ENST00000398722:exon29:c.A4684G:p.I1562V;ENSG00000167210:ENST00000579038:exon16:c.A1897G:p.I633V;ENSG00000167210:ENST00000582408:exon16:c.A1999G:p.I667V;	2.72429276567837E-4	0.054
18	44087675	T	G	18	46507712	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon35:c.A5332C:p.I1778L;LOXHD1:NM_001173129:exon4:c.A235C:p.I79L;LOXHD1:NM_001145473:exon4:c.A235C:p.I79L;LOXHD1:NM_001145472:exon18:c.A2185C:p.I729L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon34:c.A4900C:p.I1634L;ENSG00000167210:ENST00000300591:exon18:c.A2185C:p.I729L;ENSG00000167210:ENST00000398705:exon4:c.A235C:p.I79L;ENSG00000167210:ENST00000398686:exon4:c.A235C:p.I79L;ENSG00000167210:ENST00000414184:exon4:c.A235C:p.I79L;ENSG00000167210:ENST00000536736:exon35:c.A5332C:p.I1778L;ENSG00000167210:ENST00000441893:exon16:c.A2131C:p.I711L;ENSG00000167210:ENST00000398722:exon29:c.A4684C:p.I1562L;ENSG00000167210:ENST00000579038:exon16:c.A1897C:p.I633L;ENSG00000167210:ENST00000582408:exon16:c.A1999C:p.I667L;	0.00993571897121431	0.102
18	44087676	C	A	18	46507713	y	y	splicing	LOXHD1(NM_001173129:exon5:c.235-1G>T;NM_001145472:exon19:c.2185-1G>T;NM_144612:exon36:c.5332-1G>T;NM_001145473:exon5:c.235-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2185-1G>T;ENST00000398722:exon30:c.4684-1G>T;ENST00000579038:exon17:c.1897-1G>T;ENST00000398705:exon5:c.235-1G>T;ENST00000441893:exon17:c.2131-1G>T;ENST00000536736:exon36:c.5332-1G>T;ENST00000582408:exon17:c.1999-1G>T;ENST00000398686:exon5:c.235-1G>T;ENST00000441551:exon35:c.4900-1G>T;ENST00000414184:exon5:c.235-1G>T)	.	.	0.999986675681007	0.94
18	44087676	C	G	18	46507713	y	y	splicing	LOXHD1(NM_001173129:exon5:c.235-1G>C;NM_001145472:exon19:c.2185-1G>C;NM_144612:exon36:c.5332-1G>C;NM_001145473:exon5:c.235-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2185-1G>C;ENST00000398722:exon30:c.4684-1G>C;ENST00000579038:exon17:c.1897-1G>C;ENST00000398705:exon5:c.235-1G>C;ENST00000441893:exon17:c.2131-1G>C;ENST00000536736:exon36:c.5332-1G>C;ENST00000582408:exon17:c.1999-1G>C;ENST00000398686:exon5:c.235-1G>C;ENST00000441551:exon35:c.4900-1G>C;ENST00000414184:exon5:c.235-1G>C)	.	.	0.999986675681007	0.94
18	44087676	C	T	18	46507713	y	y	splicing	LOXHD1(NM_001173129:exon5:c.235-1G>A;NM_001145472:exon19:c.2185-1G>A;NM_144612:exon36:c.5332-1G>A;NM_001145473:exon5:c.235-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2185-1G>A;ENST00000398722:exon30:c.4684-1G>A;ENST00000579038:exon17:c.1897-1G>A;ENST00000398705:exon5:c.235-1G>A;ENST00000441893:exon17:c.2131-1G>A;ENST00000536736:exon36:c.5332-1G>A;ENST00000582408:exon17:c.1999-1G>A;ENST00000398686:exon5:c.235-1G>A;ENST00000441551:exon35:c.4900-1G>A;ENST00000414184:exon5:c.235-1G>A)	.	.	0.999986675681007	0.94
18	44087677	T	A	18	46507714	y	y	splicing	LOXHD1(NM_001173129:exon5:c.235-2A>T;NM_001145472:exon19:c.2185-2A>T;NM_144612:exon36:c.5332-2A>T;NM_001145473:exon5:c.235-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2185-2A>T;ENST00000398722:exon30:c.4684-2A>T;ENST00000579038:exon17:c.1897-2A>T;ENST00000398705:exon5:c.235-2A>T;ENST00000441893:exon17:c.2131-2A>T;ENST00000536736:exon36:c.5332-2A>T;ENST00000582408:exon17:c.1999-2A>T;ENST00000398686:exon5:c.235-2A>T;ENST00000441551:exon35:c.4900-2A>T;ENST00000414184:exon5:c.235-2A>T)	.	.	0.999989917668626	0.928
18	44087677	T	C	18	46507714	y	y	splicing	LOXHD1(NM_001173129:exon5:c.235-2A>G;NM_001145472:exon19:c.2185-2A>G;NM_144612:exon36:c.5332-2A>G;NM_001145473:exon5:c.235-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2185-2A>G;ENST00000398722:exon30:c.4684-2A>G;ENST00000579038:exon17:c.1897-2A>G;ENST00000398705:exon5:c.235-2A>G;ENST00000441893:exon17:c.2131-2A>G;ENST00000536736:exon36:c.5332-2A>G;ENST00000582408:exon17:c.1999-2A>G;ENST00000398686:exon5:c.235-2A>G;ENST00000441551:exon35:c.4900-2A>G;ENST00000414184:exon5:c.235-2A>G)	.	.	0.999989917668626	0.928
18	44087677	T	G	18	46507714	y	y	splicing	LOXHD1(NM_001173129:exon5:c.235-2A>C;NM_001145472:exon19:c.2185-2A>C;NM_144612:exon36:c.5332-2A>C;NM_001145473:exon5:c.235-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon19:c.2185-2A>C;ENST00000398722:exon30:c.4684-2A>C;ENST00000579038:exon17:c.1897-2A>C;ENST00000398705:exon5:c.235-2A>C;ENST00000441893:exon17:c.2131-2A>C;ENST00000536736:exon36:c.5332-2A>C;ENST00000582408:exon17:c.1999-2A>C;ENST00000398686:exon5:c.235-2A>C;ENST00000441551:exon35:c.4900-2A>C;ENST00000414184:exon5:c.235-2A>C)	.	.	0.999989917668626	0.926
18	44087678	G	A	18	46507715	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.35866620469929E-4	0.074
18	44087678	G	C	18	46507715	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998959485537268	0.928
18	44087678	G	T	18	46507715	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.984296666215234	0.654
18	44087679	G	A	18	46507716	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00237007583771381	0.03
18	44087679	G	C	18	46507716	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00177015946120798	0.036
18	44087679	G	T	18	46507716	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00266138637800227	0.052
18	44087680	G	A	18	46507717	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.36442655838865E-5	0.0
18	44087680	G	C	18	46507717	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00438889319862109	0.118
18	44087680	G	T	18	46507717	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00496396619436853	0.16
18	44087681	G	A	18	46507718	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.54070681007425E-5	0.018
18	44087681	G	C	18	46507718	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.136324316815887	0.17
18	44087681	G	T	18	46507718	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0120683112905604	0.136
18	44087682	G	A	18	46507719	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.11870017922577E-5	0.032
18	44087682	G	C	18	46507719	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00309639249141873	0.134
18	44087682	G	T	18	46507719	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00237541876351765	0.126
18	44087683	A	C	18	46507720	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00286058816565784	0.136
18	44087683	A	G	18	46507720	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.57856675740236E-4	0.006
18	44087683	A	T	18	46507720	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0145000333294837	0.12
18	44087684	G	A	18	46507721	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.10215450958507E-5	0.0
18	44087684	G	C	18	46507721	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.6581644818853E-4	0.004
18	44087684	G	T	18	46507721	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.27754420477838E-4	0.012
18	44087685	A	C	18	46507722	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.18587807655066E-4	0.124
18	44087685	A	G	18	46507722	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.46548412031982E-5	0.018
18	44087685	A	T	18	46507722	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00435530181362499	0.106
18	44087686	G	A	18	46507723	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.89640884616752E-4	0.008
18	44087686	G	C	18	46507723	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.34806905832572E-4	0.026
18	44087686	G	T	18	46507723	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.16807149521392E-4	0.104
18	44087687	G	A	18	46507724	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.67014887193206E-5	0.0
18	44087687	G	C	18	46507724	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.75079019840276E-4	0.038
18	44087687	G	T	18	46507724	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.96278320465724E-4	0.026
18	44089653	C	A	18	46509690	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.60496047293168E-4	0.046
18	44089653	C	G	18	46509690	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.73653886080096E-5	0.034
18	44089653	C	T	18	46509690	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.56920594001637E-4	0.072
18	44089654	A	C	18	46509691	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.22176146368667E-4	0.004
18	44089654	A	G	18	46509691	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.27531422526852E-4	0.004
18	44089654	A	T	18	46509691	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00110084506656235	0.014
18	44089655	T	A	18	46509692	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.9693831375045E-5	0.018
18	44089655	T	C	18	46509692	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.80927494738821E-5	0.148
18	44089655	T	G	18	46509692	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.92393727135843E-5	0.052
18	44089656	T	A	18	46509693	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.48693378072263E-5	0.054
18	44089656	T	C	18	46509693	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.15715723026904E-4	0.074
18	44089656	T	G	18	46509693	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.63167383080287E-4	0.084
18	44089657	T	A	18	46509694	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.924322952742393	0.568
18	44089657	T	C	18	46509694	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995812958347202	0.646
18	44089657	T	G	18	46509694	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.978825450474843	0.684
18	44089658	T	A	18	46509695	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999819676741977	0.954
18	44089658	T	C	18	46509695	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998500023815535	0.86
18	44089658	T	G	18	46509695	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999725917898007	0.95
18	44089659	A	C	18	46509696	y	y	splicing	LOXHD1(NM_001173129:exon4:c.234+2T>G;NM_001145472:exon18:c.2184+2T>G;NM_144612:exon35:c.5331+2T>G;NM_001145473:exon4:c.234+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2184+2T>G;ENST00000398722:exon29:c.4683+2T>G;ENST00000579038:exon16:c.1896+2T>G;ENST00000398705:exon4:c.234+2T>G;ENST00000441893:exon16:c.2130+2T>G;ENST00000536736:exon35:c.5331+2T>G;ENST00000582408:exon16:c.1998+2T>G;ENST00000398686:exon4:c.234+2T>G;ENST00000441551:exon34:c.4899+2T>G;ENST00000414184:exon4:c.234+2T>G)	.	.	0.999986741007567	0.938
18	44089659	A	G	18	46509696	y	y	splicing	LOXHD1(NM_001173129:exon4:c.234+2T>C;NM_001145472:exon18:c.2184+2T>C;NM_144612:exon35:c.5331+2T>C;NM_001145473:exon4:c.234+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2184+2T>C;ENST00000398722:exon29:c.4683+2T>C;ENST00000579038:exon16:c.1896+2T>C;ENST00000398705:exon4:c.234+2T>C;ENST00000441893:exon16:c.2130+2T>C;ENST00000536736:exon35:c.5331+2T>C;ENST00000582408:exon16:c.1998+2T>C;ENST00000398686:exon4:c.234+2T>C;ENST00000441551:exon34:c.4899+2T>C;ENST00000414184:exon4:c.234+2T>C)	.	.	0.999870165136786	0.9
18	44089659	A	T	18	46509696	y	y	splicing	LOXHD1(NM_001173129:exon4:c.234+2T>A;NM_001145472:exon18:c.2184+2T>A;NM_144612:exon35:c.5331+2T>A;NM_001145473:exon4:c.234+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2184+2T>A;ENST00000398722:exon29:c.4683+2T>A;ENST00000579038:exon16:c.1896+2T>A;ENST00000398705:exon4:c.234+2T>A;ENST00000441893:exon16:c.2130+2T>A;ENST00000536736:exon35:c.5331+2T>A;ENST00000582408:exon16:c.1998+2T>A;ENST00000398686:exon4:c.234+2T>A;ENST00000441551:exon34:c.4899+2T>A;ENST00000414184:exon4:c.234+2T>A)	.	.	0.999986741007567	0.938
18	44089660	C	A	18	46509697	y	y	splicing	LOXHD1(NM_001173129:exon4:c.234+1G>T;NM_001145472:exon18:c.2184+1G>T;NM_144612:exon35:c.5331+1G>T;NM_001145473:exon4:c.234+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2184+1G>T;ENST00000398722:exon29:c.4683+1G>T;ENST00000579038:exon16:c.1896+1G>T;ENST00000398705:exon4:c.234+1G>T;ENST00000441893:exon16:c.2130+1G>T;ENST00000536736:exon35:c.5331+1G>T;ENST00000582408:exon16:c.1998+1G>T;ENST00000398686:exon4:c.234+1G>T;ENST00000441551:exon34:c.4899+1G>T;ENST00000414184:exon4:c.234+1G>T)	.	.	0.999987670894945	0.94
18	44089660	C	G	18	46509697	y	y	splicing	LOXHD1(NM_001173129:exon4:c.234+1G>C;NM_001145472:exon18:c.2184+1G>C;NM_144612:exon35:c.5331+1G>C;NM_001145473:exon4:c.234+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2184+1G>C;ENST00000398722:exon29:c.4683+1G>C;ENST00000579038:exon16:c.1896+1G>C;ENST00000398705:exon4:c.234+1G>C;ENST00000441893:exon16:c.2130+1G>C;ENST00000536736:exon35:c.5331+1G>C;ENST00000582408:exon16:c.1998+1G>C;ENST00000398686:exon4:c.234+1G>C;ENST00000441551:exon34:c.4899+1G>C;ENST00000414184:exon4:c.234+1G>C)	.	.	0.999987670894945	0.94
18	44089660	C	T	18	46509697	y	y	splicing	LOXHD1(NM_001173129:exon4:c.234+1G>A;NM_001145472:exon18:c.2184+1G>A;NM_144612:exon35:c.5331+1G>A;NM_001145473:exon4:c.234+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2184+1G>A;ENST00000398722:exon29:c.4683+1G>A;ENST00000579038:exon16:c.1896+1G>A;ENST00000398705:exon4:c.234+1G>A;ENST00000441893:exon16:c.2130+1G>A;ENST00000536736:exon35:c.5331+1G>A;ENST00000582408:exon16:c.1998+1G>A;ENST00000398686:exon4:c.234+1G>A;ENST00000441551:exon34:c.4899+1G>A;ENST00000414184:exon4:c.234+1G>A)	.	.	0.999987670894945	0.94
18	44089661	C	A	18	46509698	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.G5331T:p.R1777S;LOXHD1:NM_001173129:exon3:c.G234T:p.R78S;LOXHD1:NM_001145473:exon3:c.G234T:p.R78S;LOXHD1:NM_001145472:exon17:c.G2184T:p.R728S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4899T:p.R1633S;ENSG00000167210:ENST00000300591:exon17:c.G2184T:p.R728S;ENSG00000167210:ENST00000398705:exon3:c.G234T:p.R78S;ENSG00000167210:ENST00000398686:exon3:c.G234T:p.R78S;ENSG00000167210:ENST00000414184:exon3:c.G234T:p.R78S;ENSG00000167210:ENST00000536736:exon34:c.G5331T:p.R1777S;ENSG00000167210:ENST00000441893:exon15:c.G2130T:p.R710S;ENSG00000167210:ENST00000398722:exon28:c.G4683T:p.R1561S;ENSG00000167210:ENST00000579038:exon15:c.G1896T:p.R632S;ENSG00000167210:ENST00000582408:exon15:c.G1998T:p.R666S;	0.999977272998575	0.998
18	44089661	C	G	18	46509698	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.G5331C:p.R1777S;LOXHD1:NM_001173129:exon3:c.G234C:p.R78S;LOXHD1:NM_001145473:exon3:c.G234C:p.R78S;LOXHD1:NM_001145472:exon17:c.G2184C:p.R728S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4899C:p.R1633S;ENSG00000167210:ENST00000300591:exon17:c.G2184C:p.R728S;ENSG00000167210:ENST00000398705:exon3:c.G234C:p.R78S;ENSG00000167210:ENST00000398686:exon3:c.G234C:p.R78S;ENSG00000167210:ENST00000414184:exon3:c.G234C:p.R78S;ENSG00000167210:ENST00000536736:exon34:c.G5331C:p.R1777S;ENSG00000167210:ENST00000441893:exon15:c.G2130C:p.R710S;ENSG00000167210:ENST00000398722:exon28:c.G4683C:p.R1561S;ENSG00000167210:ENST00000579038:exon15:c.G1896C:p.R632S;ENSG00000167210:ENST00000582408:exon15:c.G1998C:p.R666S;	0.99999054102043	1.0
18	44089661	C	T	18	46509698	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon34:c.G5331A:p.R1777R;LOXHD1:NM_001173129:exon3:c.G234A:p.R78R;LOXHD1:NM_001145473:exon3:c.G234A:p.R78R;LOXHD1:NM_001145472:exon17:c.G2184A:p.R728R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4899A:p.R1633R;ENSG00000167210:ENST00000300591:exon17:c.G2184A:p.R728R;ENSG00000167210:ENST00000398705:exon3:c.G234A:p.R78R;ENSG00000167210:ENST00000398686:exon3:c.G234A:p.R78R;ENSG00000167210:ENST00000414184:exon3:c.G234A:p.R78R;ENSG00000167210:ENST00000536736:exon34:c.G5331A:p.R1777R;ENSG00000167210:ENST00000441893:exon15:c.G2130A:p.R710R;ENSG00000167210:ENST00000398722:exon28:c.G4683A:p.R1561R;ENSG00000167210:ENST00000579038:exon15:c.G1896A:p.R632R;ENSG00000167210:ENST00000582408:exon15:c.G1998A:p.R666R;	0.999979908019444	1.0
18	44089662	C	A	18	46509699	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.G5330T:p.R1777M;LOXHD1:NM_001173129:exon3:c.G233T:p.R78M;LOXHD1:NM_001145473:exon3:c.G233T:p.R78M;LOXHD1:NM_001145472:exon17:c.G2183T:p.R728M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4898T:p.R1633M;ENSG00000167210:ENST00000300591:exon17:c.G2183T:p.R728M;ENSG00000167210:ENST00000398705:exon3:c.G233T:p.R78M;ENSG00000167210:ENST00000398686:exon3:c.G233T:p.R78M;ENSG00000167210:ENST00000414184:exon3:c.G233T:p.R78M;ENSG00000167210:ENST00000536736:exon34:c.G5330T:p.R1777M;ENSG00000167210:ENST00000441893:exon15:c.G2129T:p.R710M;ENSG00000167210:ENST00000398722:exon28:c.G4682T:p.R1561M;ENSG00000167210:ENST00000579038:exon15:c.G1895T:p.R632M;ENSG00000167210:ENST00000582408:exon15:c.G1997T:p.R666M;	0.01377910980712	0.038
18	44089662	C	G	18	46509699	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.G5330C:p.R1777T;LOXHD1:NM_001173129:exon3:c.G233C:p.R78T;LOXHD1:NM_001145473:exon3:c.G233C:p.R78T;LOXHD1:NM_001145472:exon17:c.G2183C:p.R728T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4898C:p.R1633T;ENSG00000167210:ENST00000300591:exon17:c.G2183C:p.R728T;ENSG00000167210:ENST00000398705:exon3:c.G233C:p.R78T;ENSG00000167210:ENST00000398686:exon3:c.G233C:p.R78T;ENSG00000167210:ENST00000414184:exon3:c.G233C:p.R78T;ENSG00000167210:ENST00000536736:exon34:c.G5330C:p.R1777T;ENSG00000167210:ENST00000441893:exon15:c.G2129C:p.R710T;ENSG00000167210:ENST00000398722:exon28:c.G4682C:p.R1561T;ENSG00000167210:ENST00000579038:exon15:c.G1895C:p.R632T;ENSG00000167210:ENST00000582408:exon15:c.G1997C:p.R666T;	0.00751017389905094	0.132
18	44089662	C	T	18	46509699	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.G5330A:p.R1777K;LOXHD1:NM_001173129:exon3:c.G233A:p.R78K;LOXHD1:NM_001145473:exon3:c.G233A:p.R78K;LOXHD1:NM_001145472:exon17:c.G2183A:p.R728K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4898A:p.R1633K;ENSG00000167210:ENST00000300591:exon17:c.G2183A:p.R728K;ENSG00000167210:ENST00000398705:exon3:c.G233A:p.R78K;ENSG00000167210:ENST00000398686:exon3:c.G233A:p.R78K;ENSG00000167210:ENST00000414184:exon3:c.G233A:p.R78K;ENSG00000167210:ENST00000536736:exon34:c.G5330A:p.R1777K;ENSG00000167210:ENST00000441893:exon15:c.G2129A:p.R710K;ENSG00000167210:ENST00000398722:exon28:c.G4682A:p.R1561K;ENSG00000167210:ENST00000579038:exon15:c.G1895A:p.R632K;ENSG00000167210:ENST00000582408:exon15:c.G1997A:p.R666K;	0.0218909891918162	0.272
18	44089663	T	A	18	46509700	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.A5329T:p.R1777W;LOXHD1:NM_001173129:exon3:c.A232T:p.R78W;LOXHD1:NM_001145473:exon3:c.A232T:p.R78W;LOXHD1:NM_001145472:exon17:c.A2182T:p.R728W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.A4897T:p.R1633W;ENSG00000167210:ENST00000300591:exon17:c.A2182T:p.R728W;ENSG00000167210:ENST00000398705:exon3:c.A232T:p.R78W;ENSG00000167210:ENST00000398686:exon3:c.A232T:p.R78W;ENSG00000167210:ENST00000414184:exon3:c.A232T:p.R78W;ENSG00000167210:ENST00000536736:exon34:c.A5329T:p.R1777W;ENSG00000167210:ENST00000441893:exon15:c.A2128T:p.R710W;ENSG00000167210:ENST00000398722:exon28:c.A4681T:p.R1561W;ENSG00000167210:ENST00000579038:exon15:c.A1894T:p.R632W;ENSG00000167210:ENST00000582408:exon15:c.A1996T:p.R666W;	0.947024380373556	0.654
18	44089663	T	C	18	46509700	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.A5329G:p.R1777G;LOXHD1:NM_001173129:exon3:c.A232G:p.R78G;LOXHD1:NM_001145473:exon3:c.A232G:p.R78G;LOXHD1:NM_001145472:exon17:c.A2182G:p.R728G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.A4897G:p.R1633G;ENSG00000167210:ENST00000300591:exon17:c.A2182G:p.R728G;ENSG00000167210:ENST00000398705:exon3:c.A232G:p.R78G;ENSG00000167210:ENST00000398686:exon3:c.A232G:p.R78G;ENSG00000167210:ENST00000414184:exon3:c.A232G:p.R78G;ENSG00000167210:ENST00000536736:exon34:c.A5329G:p.R1777G;ENSG00000167210:ENST00000441893:exon15:c.A2128G:p.R710G;ENSG00000167210:ENST00000398722:exon28:c.A4681G:p.R1561G;ENSG00000167210:ENST00000579038:exon15:c.A1894G:p.R632G;ENSG00000167210:ENST00000582408:exon15:c.A1996G:p.R666G;	0.209001316391904	0.328
18	44089663	T	G	18	46509700	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon34:c.A5329C:p.R1777R;LOXHD1:NM_001173129:exon3:c.A232C:p.R78R;LOXHD1:NM_001145473:exon3:c.A232C:p.R78R;LOXHD1:NM_001145472:exon17:c.A2182C:p.R728R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.A4897C:p.R1633R;ENSG00000167210:ENST00000300591:exon17:c.A2182C:p.R728R;ENSG00000167210:ENST00000398705:exon3:c.A232C:p.R78R;ENSG00000167210:ENST00000398686:exon3:c.A232C:p.R78R;ENSG00000167210:ENST00000414184:exon3:c.A232C:p.R78R;ENSG00000167210:ENST00000536736:exon34:c.A5329C:p.R1777R;ENSG00000167210:ENST00000441893:exon15:c.A2128C:p.R710R;ENSG00000167210:ENST00000398722:exon28:c.A4681C:p.R1561R;ENSG00000167210:ENST00000579038:exon15:c.A1894C:p.R632R;ENSG00000167210:ENST00000582408:exon15:c.A1996C:p.R666R;	0.0029360080659901	0.044
18	44089777	A	C	18	46509814	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.T5215G:p.F1739V;LOXHD1:NM_001173129:exon3:c.T118G:p.F40V;LOXHD1:NM_001145473:exon3:c.T118G:p.F40V;LOXHD1:NM_001145472:exon17:c.T2068G:p.F690V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.T4783G:p.F1595V;ENSG00000167210:ENST00000300591:exon17:c.T2068G:p.F690V;ENSG00000167210:ENST00000398705:exon3:c.T118G:p.F40V;ENSG00000167210:ENST00000398686:exon3:c.T118G:p.F40V;ENSG00000167210:ENST00000414184:exon3:c.T118G:p.F40V;ENSG00000167210:ENST00000536736:exon34:c.T5215G:p.F1739V;ENSG00000167210:ENST00000441893:exon15:c.T2014G:p.F672V;ENSG00000167210:ENST00000452425:exon3:c.T169G:p.F57V;ENSG00000167210:ENST00000398722:exon28:c.T4567G:p.F1523V;ENSG00000167210:ENST00000579038:exon15:c.T1780G:p.F594V;ENSG00000167210:ENST00000582408:exon15:c.T1882G:p.F628V;	0.215790973203524	0.386
18	44089777	A	G	18	46509814	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.T5215C:p.F1739L;LOXHD1:NM_001173129:exon3:c.T118C:p.F40L;LOXHD1:NM_001145473:exon3:c.T118C:p.F40L;LOXHD1:NM_001145472:exon17:c.T2068C:p.F690L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.T4783C:p.F1595L;ENSG00000167210:ENST00000300591:exon17:c.T2068C:p.F690L;ENSG00000167210:ENST00000398705:exon3:c.T118C:p.F40L;ENSG00000167210:ENST00000398686:exon3:c.T118C:p.F40L;ENSG00000167210:ENST00000414184:exon3:c.T118C:p.F40L;ENSG00000167210:ENST00000536736:exon34:c.T5215C:p.F1739L;ENSG00000167210:ENST00000441893:exon15:c.T2014C:p.F672L;ENSG00000167210:ENST00000452425:exon3:c.T169C:p.F57L;ENSG00000167210:ENST00000398722:exon28:c.T4567C:p.F1523L;ENSG00000167210:ENST00000579038:exon15:c.T1780C:p.F594L;ENSG00000167210:ENST00000582408:exon15:c.T1882C:p.F628L;	0.237224483905031	0.396
18	44089777	A	T	18	46509814	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.T5215A:p.F1739I;LOXHD1:NM_001173129:exon3:c.T118A:p.F40I;LOXHD1:NM_001145473:exon3:c.T118A:p.F40I;LOXHD1:NM_001145472:exon17:c.T2068A:p.F690I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.T4783A:p.F1595I;ENSG00000167210:ENST00000300591:exon17:c.T2068A:p.F690I;ENSG00000167210:ENST00000398705:exon3:c.T118A:p.F40I;ENSG00000167210:ENST00000398686:exon3:c.T118A:p.F40I;ENSG00000167210:ENST00000414184:exon3:c.T118A:p.F40I;ENSG00000167210:ENST00000536736:exon34:c.T5215A:p.F1739I;ENSG00000167210:ENST00000441893:exon15:c.T2014A:p.F672I;ENSG00000167210:ENST00000452425:exon3:c.T169A:p.F57I;ENSG00000167210:ENST00000398722:exon28:c.T4567A:p.F1523I;ENSG00000167210:ENST00000579038:exon15:c.T1780A:p.F594I;ENSG00000167210:ENST00000582408:exon15:c.T1882A:p.F628I;	0.244260176784123	0.402
18	44089778	C	A	18	46509815	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.G5214T:p.R1738S;LOXHD1:NM_001173129:exon3:c.G117T:p.R39S;LOXHD1:NM_001145473:exon3:c.G117T:p.R39S;LOXHD1:NM_001145472:exon17:c.G2067T:p.R689S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4782T:p.R1594S;ENSG00000167210:ENST00000300591:exon17:c.G2067T:p.R689S;ENSG00000167210:ENST00000398705:exon3:c.G117T:p.R39S;ENSG00000167210:ENST00000398686:exon3:c.G117T:p.R39S;ENSG00000167210:ENST00000414184:exon3:c.G117T:p.R39S;ENSG00000167210:ENST00000536736:exon34:c.G5214T:p.R1738S;ENSG00000167210:ENST00000441893:exon15:c.G2013T:p.R671S;ENSG00000167210:ENST00000452425:exon3:c.G168T:p.R56S;ENSG00000167210:ENST00000398722:exon28:c.G4566T:p.R1522S;ENSG00000167210:ENST00000579038:exon15:c.G1779T:p.R593S;ENSG00000167210:ENST00000582408:exon15:c.G1881T:p.R627S;	0.524220112655199	0.674
18	44089778	C	G	18	46509815	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon34:c.G5214C:p.R1738S;LOXHD1:NM_001173129:exon3:c.G117C:p.R39S;LOXHD1:NM_001145473:exon3:c.G117C:p.R39S;LOXHD1:NM_001145472:exon17:c.G2067C:p.R689S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4782C:p.R1594S;ENSG00000167210:ENST00000300591:exon17:c.G2067C:p.R689S;ENSG00000167210:ENST00000398705:exon3:c.G117C:p.R39S;ENSG00000167210:ENST00000398686:exon3:c.G117C:p.R39S;ENSG00000167210:ENST00000414184:exon3:c.G117C:p.R39S;ENSG00000167210:ENST00000536736:exon34:c.G5214C:p.R1738S;ENSG00000167210:ENST00000441893:exon15:c.G2013C:p.R671S;ENSG00000167210:ENST00000452425:exon3:c.G168C:p.R56S;ENSG00000167210:ENST00000398722:exon28:c.G4566C:p.R1522S;ENSG00000167210:ENST00000579038:exon15:c.G1779C:p.R593S;ENSG00000167210:ENST00000582408:exon15:c.G1881C:p.R627S;	0.1234227524465	0.562
18	44089778	C	T	18	46509815	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon34:c.G5214A:p.R1738R;LOXHD1:NM_001173129:exon3:c.G117A:p.R39R;LOXHD1:NM_001145473:exon3:c.G117A:p.R39R;LOXHD1:NM_001145472:exon17:c.G2067A:p.R689R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon33:c.G4782A:p.R1594R;ENSG00000167210:ENST00000300591:exon17:c.G2067A:p.R689R;ENSG00000167210:ENST00000398705:exon3:c.G117A:p.R39R;ENSG00000167210:ENST00000398686:exon3:c.G117A:p.R39R;ENSG00000167210:ENST00000414184:exon3:c.G117A:p.R39R;ENSG00000167210:ENST00000536736:exon34:c.G5214A:p.R1738R;ENSG00000167210:ENST00000441893:exon15:c.G2013A:p.R671R;ENSG00000167210:ENST00000452425:exon3:c.G168A:p.R56R;ENSG00000167210:ENST00000398722:exon28:c.G4566A:p.R1522R;ENSG00000167210:ENST00000579038:exon15:c.G1779A:p.R593R;ENSG00000167210:ENST00000582408:exon15:c.G1881A:p.R627R;	0.00836732936277141	0.258
18	44089779	C	A	18	46509816	y	y	splicing	LOXHD1(NM_001173129:exon4:c.117-1G>T;NM_001145472:exon18:c.2067-1G>T;NM_144612:exon35:c.5214-1G>T;NM_001145473:exon4:c.117-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2067-1G>T;ENST00000398722:exon29:c.4566-1G>T;ENST00000579038:exon16:c.1779-1G>T;ENST00000398705:exon4:c.117-1G>T;ENST00000441893:exon16:c.2013-1G>T;ENST00000536736:exon35:c.5214-1G>T;ENST00000582408:exon16:c.1881-1G>T;ENST00000398686:exon4:c.117-1G>T;ENST00000441551:exon34:c.4782-1G>T;ENST00000414184:exon4:c.117-1G>T;ENST00000452425:exon4:c.168-1G>T)	.	.	0.999989072007339	0.934
18	44089779	C	G	18	46509816	y	y	splicing	LOXHD1(NM_001173129:exon4:c.117-1G>C;NM_001145472:exon18:c.2067-1G>C;NM_144612:exon35:c.5214-1G>C;NM_001145473:exon4:c.117-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2067-1G>C;ENST00000398722:exon29:c.4566-1G>C;ENST00000579038:exon16:c.1779-1G>C;ENST00000398705:exon4:c.117-1G>C;ENST00000441893:exon16:c.2013-1G>C;ENST00000536736:exon35:c.5214-1G>C;ENST00000582408:exon16:c.1881-1G>C;ENST00000398686:exon4:c.117-1G>C;ENST00000441551:exon34:c.4782-1G>C;ENST00000414184:exon4:c.117-1G>C;ENST00000452425:exon4:c.168-1G>C)	.	.	0.999989072007339	0.934
18	44089779	C	T	18	46509816	y	y	splicing	LOXHD1(NM_001173129:exon4:c.117-1G>A;NM_001145472:exon18:c.2067-1G>A;NM_144612:exon35:c.5214-1G>A;NM_001145473:exon4:c.117-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2067-1G>A;ENST00000398722:exon29:c.4566-1G>A;ENST00000579038:exon16:c.1779-1G>A;ENST00000398705:exon4:c.117-1G>A;ENST00000441893:exon16:c.2013-1G>A;ENST00000536736:exon35:c.5214-1G>A;ENST00000582408:exon16:c.1881-1G>A;ENST00000398686:exon4:c.117-1G>A;ENST00000441551:exon34:c.4782-1G>A;ENST00000414184:exon4:c.117-1G>A;ENST00000452425:exon4:c.168-1G>A)	.	.	0.999989072007339	0.934
18	44089780	T	A	18	46509817	y	y	splicing	LOXHD1(NM_001173129:exon4:c.117-2A>T;NM_001145472:exon18:c.2067-2A>T;NM_144612:exon35:c.5214-2A>T;NM_001145473:exon4:c.117-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2067-2A>T;ENST00000398722:exon29:c.4566-2A>T;ENST00000579038:exon16:c.1779-2A>T;ENST00000398705:exon4:c.117-2A>T;ENST00000441893:exon16:c.2013-2A>T;ENST00000536736:exon35:c.5214-2A>T;ENST00000582408:exon16:c.1881-2A>T;ENST00000398686:exon4:c.117-2A>T;ENST00000441551:exon34:c.4782-2A>T;ENST00000414184:exon4:c.117-2A>T;ENST00000452425:exon4:c.168-2A>T)	.	.	0.999988247793601	0.932
18	44089780	T	C	18	46509817	y	y	splicing	LOXHD1(NM_001173129:exon4:c.117-2A>G;NM_001145472:exon18:c.2067-2A>G;NM_144612:exon35:c.5214-2A>G;NM_001145473:exon4:c.117-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2067-2A>G;ENST00000398722:exon29:c.4566-2A>G;ENST00000579038:exon16:c.1779-2A>G;ENST00000398705:exon4:c.117-2A>G;ENST00000441893:exon16:c.2013-2A>G;ENST00000536736:exon35:c.5214-2A>G;ENST00000582408:exon16:c.1881-2A>G;ENST00000398686:exon4:c.117-2A>G;ENST00000441551:exon34:c.4782-2A>G;ENST00000414184:exon4:c.117-2A>G;ENST00000452425:exon4:c.168-2A>G)	.	.	0.999988247793601	0.932
18	44089780	T	G	18	46509817	y	y	splicing	LOXHD1(NM_001173129:exon4:c.117-2A>C;NM_001145472:exon18:c.2067-2A>C;NM_144612:exon35:c.5214-2A>C;NM_001145473:exon4:c.117-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon18:c.2067-2A>C;ENST00000398722:exon29:c.4566-2A>C;ENST00000579038:exon16:c.1779-2A>C;ENST00000398705:exon4:c.117-2A>C;ENST00000441893:exon16:c.2013-2A>C;ENST00000536736:exon35:c.5214-2A>C;ENST00000582408:exon16:c.1881-2A>C;ENST00000398686:exon4:c.117-2A>C;ENST00000441551:exon34:c.4782-2A>C;ENST00000414184:exon4:c.117-2A>C;ENST00000452425:exon4:c.168-2A>C)	.	.	0.999988247793601	0.932
18	44089781	G	A	18	46509818	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.07905885524281E-4	0.036
18	44089781	G	C	18	46509818	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.981867421421846	0.892
18	44089781	G	T	18	46509818	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.466645441659694	0.552
18	44089782	G	A	18	46509819	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.98777211332916E-5	0.02
18	44089782	G	C	18	46509819	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.07140051865855E-4	0.032
18	44089782	G	T	18	46509819	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.98777211332916E-5	0.016
18	44089783	G	A	18	46509820	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.26848964498332E-5	0.0
18	44089783	G	C	18	46509820	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.75724536894313E-5	0.008
18	44089783	G	T	18	46509820	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.75724536894313E-5	0.0
18	44089784	G	A	18	46509821	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.31697342965092E-5	0.004
18	44089784	G	C	18	46509821	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.83011926122257E-4	0.108
18	44089784	G	T	18	46509821	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.77009317647876E-4	0.074
18	44089785	G	A	18	46509822	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.36306266015707E-5	0.0
18	44089785	G	C	18	46509822	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995879423597741	0.85
18	44089785	G	T	18	46509822	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.21836680694824E-4	0.088
18	44089786	T	A	18	46509823	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.07294258954269E-5	0.0
18	44089786	T	C	18	46509823	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.4607950424781E-6	0.002
18	44089786	T	G	18	46509823	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.39337484093869E-5	0.006
18	44089787	G	A	18	46509824	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.69325764259077E-5	0.0
18	44089787	G	C	18	46509824	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00262891744629247	0.036
18	44089787	G	T	18	46509824	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0016441333679781	0.074
18	44089788	G	A	18	46509825	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.05059111188853E-5	0.0
18	44089788	G	C	18	46509825	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00520216963435455	0.134
18	44089788	G	T	18	46509825	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00434419358276943	0.054
18	44089789	A	C	18	46509826	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.31742959063342E-4	0.084
18	44089789	A	G	18	46509826	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.13630284955555E-5	0.012
18	44089789	A	T	18	46509826	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.42263566038698E-4	0.084
18	44089790	G	A	18	46509827	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.90998303420855E-5	0.002
18	44089790	G	C	18	46509827	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.7055222261417E-4	0.036
18	44089790	G	T	18	46509827	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.66822952655758E-4	0.034
18	44098084	C	A	18	46518121	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.61582544441454E-4	0.0
18	44098084	C	G	18	46518121	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.20323036247457E-4	0.0
18	44098084	C	T	18	46518121	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.61582544441454E-4	0.0
18	44098085	C	A	18	46518122	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.1951649367366E-5	0.0
18	44098085	C	G	18	46518122	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.23306658812244E-5	0.0
18	44098085	C	T	18	46518122	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.01005136231726E-4	0.0
18	44098086	A	C	18	46518123	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00494591012665447	0.256
18	44098086	A	G	18	46518123	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00399818442022746	0.232
18	44098086	A	T	18	46518123	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00399734198005637	0.186
18	44098087	G	A	18	46518124	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.7794801659713E-4	0.092
18	44098087	G	C	18	46518124	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.14451610742867E-4	0.06
18	44098087	G	T	18	46518124	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0011556015379169	0.09
18	44098088	G	A	18	46518125	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.81558148268821E-4	0.09
18	44098088	G	C	18	46518125	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.39509010803593E-5	0.076
18	44098088	G	T	18	46518125	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.45108124272579E-5	0.058
18	44098089	T	A	18	46518126	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999967909417308	0.986
18	44098089	T	C	18	46518126	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.943312465880898	0.922
18	44098089	T	G	18	46518126	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999946439992744	0.968
18	44098090	A	C	18	46518127	y	y	splicing	LOXHD1(NM_001173129:exon3:c.116+2T>G;NM_001145472:exon17:c.2066+2T>G;NM_144612:exon34:c.5213+2T>G;NM_001145473:exon3:c.116+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.2066+2T>G;ENST00000398722:exon28:c.4565+2T>G;ENST00000579038:exon15:c.1778+2T>G;ENST00000398705:exon3:c.116+2T>G;ENST00000441893:exon15:c.2012+2T>G;ENST00000536736:exon34:c.5213+2T>G;ENST00000582408:exon15:c.1880+2T>G;ENST00000398686:exon3:c.116+2T>G;ENST00000441551:exon33:c.4781+2T>G;ENST00000414184:exon3:c.116+2T>G;ENST00000452425:exon3:c.167+2T>G)	.	.	0.999994907583848	0.938
18	44098090	A	G	18	46518127	y	y	splicing	LOXHD1(NM_001173129:exon3:c.116+2T>C;NM_001145472:exon17:c.2066+2T>C;NM_144612:exon34:c.5213+2T>C;NM_001145473:exon3:c.116+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.2066+2T>C;ENST00000398722:exon28:c.4565+2T>C;ENST00000579038:exon15:c.1778+2T>C;ENST00000398705:exon3:c.116+2T>C;ENST00000441893:exon15:c.2012+2T>C;ENST00000536736:exon34:c.5213+2T>C;ENST00000582408:exon15:c.1880+2T>C;ENST00000398686:exon3:c.116+2T>C;ENST00000441551:exon33:c.4781+2T>C;ENST00000414184:exon3:c.116+2T>C;ENST00000452425:exon3:c.167+2T>C)	.	.	0.995975542558949	0.62
18	44098090	A	T	18	46518127	y	y	splicing	LOXHD1(NM_001173129:exon3:c.116+2T>A;NM_001145472:exon17:c.2066+2T>A;NM_144612:exon34:c.5213+2T>A;NM_001145473:exon3:c.116+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.2066+2T>A;ENST00000398722:exon28:c.4565+2T>A;ENST00000579038:exon15:c.1778+2T>A;ENST00000398705:exon3:c.116+2T>A;ENST00000441893:exon15:c.2012+2T>A;ENST00000536736:exon34:c.5213+2T>A;ENST00000582408:exon15:c.1880+2T>A;ENST00000398686:exon3:c.116+2T>A;ENST00000441551:exon33:c.4781+2T>A;ENST00000414184:exon3:c.116+2T>A;ENST00000452425:exon3:c.167+2T>A)	.	.	0.999994907583848	0.938
18	44098091	C	A	18	46518128	y	y	splicing	LOXHD1(NM_001173129:exon3:c.116+1G>T;NM_001145472:exon17:c.2066+1G>T;NM_144612:exon34:c.5213+1G>T;NM_001145473:exon3:c.116+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.2066+1G>T;ENST00000398722:exon28:c.4565+1G>T;ENST00000579038:exon15:c.1778+1G>T;ENST00000398705:exon3:c.116+1G>T;ENST00000441893:exon15:c.2012+1G>T;ENST00000536736:exon34:c.5213+1G>T;ENST00000582408:exon15:c.1880+1G>T;ENST00000398686:exon3:c.116+1G>T;ENST00000441551:exon33:c.4781+1G>T;ENST00000414184:exon3:c.116+1G>T;ENST00000452425:exon3:c.167+1G>T)	.	.	0.999990764389106	0.932
18	44098091	C	G	18	46518128	y	y	splicing	LOXHD1(NM_001173129:exon3:c.116+1G>C;NM_001145472:exon17:c.2066+1G>C;NM_144612:exon34:c.5213+1G>C;NM_001145473:exon3:c.116+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.2066+1G>C;ENST00000398722:exon28:c.4565+1G>C;ENST00000579038:exon15:c.1778+1G>C;ENST00000398705:exon3:c.116+1G>C;ENST00000441893:exon15:c.2012+1G>C;ENST00000536736:exon34:c.5213+1G>C;ENST00000582408:exon15:c.1880+1G>C;ENST00000398686:exon3:c.116+1G>C;ENST00000441551:exon33:c.4781+1G>C;ENST00000414184:exon3:c.116+1G>C;ENST00000452425:exon3:c.167+1G>C)	.	.	0.999990764389106	0.932
18	44098091	C	T	18	46518128	y	y	splicing	LOXHD1(NM_001173129:exon3:c.116+1G>A;NM_001145472:exon17:c.2066+1G>A;NM_144612:exon34:c.5213+1G>A;NM_001145473:exon3:c.116+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.2066+1G>A;ENST00000398722:exon28:c.4565+1G>A;ENST00000579038:exon15:c.1778+1G>A;ENST00000398705:exon3:c.116+1G>A;ENST00000441893:exon15:c.2012+1G>A;ENST00000536736:exon34:c.5213+1G>A;ENST00000582408:exon15:c.1880+1G>A;ENST00000398686:exon3:c.116+1G>A;ENST00000441551:exon33:c.4781+1G>A;ENST00000414184:exon3:c.116+1G>A;ENST00000452425:exon3:c.167+1G>A)	.	.	0.999990764389106	0.932
18	44098092	C	A	18	46518129	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.G5213T:p.R1738M;LOXHD1:NM_001173129:exon2:c.G116T:p.R39M;LOXHD1:NM_001145473:exon2:c.G116T:p.R39M;LOXHD1:NM_001145472:exon16:c.G2066T:p.R689M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.G4781T:p.R1594M;ENSG00000167210:ENST00000300591:exon16:c.G2066T:p.R689M;ENSG00000167210:ENST00000398705:exon2:c.G116T:p.R39M;ENSG00000167210:ENST00000398686:exon2:c.G116T:p.R39M;ENSG00000167210:ENST00000414184:exon2:c.G116T:p.R39M;ENSG00000167210:ENST00000536736:exon33:c.G5213T:p.R1738M;ENSG00000167210:ENST00000441893:exon14:c.G2012T:p.R671M;ENSG00000167210:ENST00000452425:exon2:c.G167T:p.R56M;ENSG00000167210:ENST00000398722:exon27:c.G4565T:p.R1522M;ENSG00000167210:ENST00000579038:exon14:c.G1778T:p.R593M;ENSG00000167210:ENST00000582408:exon14:c.G1880T:p.R627M;	0.9994561213584	0.976
18	44098092	C	G	18	46518129	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.G5213C:p.R1738T;LOXHD1:NM_001173129:exon2:c.G116C:p.R39T;LOXHD1:NM_001145473:exon2:c.G116C:p.R39T;LOXHD1:NM_001145472:exon16:c.G2066C:p.R689T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.G4781C:p.R1594T;ENSG00000167210:ENST00000300591:exon16:c.G2066C:p.R689T;ENSG00000167210:ENST00000398705:exon2:c.G116C:p.R39T;ENSG00000167210:ENST00000398686:exon2:c.G116C:p.R39T;ENSG00000167210:ENST00000414184:exon2:c.G116C:p.R39T;ENSG00000167210:ENST00000536736:exon33:c.G5213C:p.R1738T;ENSG00000167210:ENST00000441893:exon14:c.G2012C:p.R671T;ENSG00000167210:ENST00000452425:exon2:c.G167C:p.R56T;ENSG00000167210:ENST00000398722:exon27:c.G4565C:p.R1522T;ENSG00000167210:ENST00000579038:exon14:c.G1778C:p.R593T;ENSG00000167210:ENST00000582408:exon14:c.G1880C:p.R627T;	0.999972174032859	0.982
18	44098092	C	T	18	46518129	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.G5213A:p.R1738K;LOXHD1:NM_001173129:exon2:c.G116A:p.R39K;LOXHD1:NM_001145473:exon2:c.G116A:p.R39K;LOXHD1:NM_001145472:exon16:c.G2066A:p.R689K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.G4781A:p.R1594K;ENSG00000167210:ENST00000300591:exon16:c.G2066A:p.R689K;ENSG00000167210:ENST00000398705:exon2:c.G116A:p.R39K;ENSG00000167210:ENST00000398686:exon2:c.G116A:p.R39K;ENSG00000167210:ENST00000414184:exon2:c.G116A:p.R39K;ENSG00000167210:ENST00000536736:exon33:c.G5213A:p.R1738K;ENSG00000167210:ENST00000441893:exon14:c.G2012A:p.R671K;ENSG00000167210:ENST00000452425:exon2:c.G167A:p.R56K;ENSG00000167210:ENST00000398722:exon27:c.G4565A:p.R1522K;ENSG00000167210:ENST00000579038:exon14:c.G1778A:p.R593K;ENSG00000167210:ENST00000582408:exon14:c.G1880A:p.R627K;	0.999992825521534	1.0
18	44098093	T	A	18	46518130	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.A5212T:p.R1738W;LOXHD1:NM_001173129:exon2:c.A115T:p.R39W;LOXHD1:NM_001145473:exon2:c.A115T:p.R39W;LOXHD1:NM_001145472:exon16:c.A2065T:p.R689W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.A4780T:p.R1594W;ENSG00000167210:ENST00000300591:exon16:c.A2065T:p.R689W;ENSG00000167210:ENST00000398705:exon2:c.A115T:p.R39W;ENSG00000167210:ENST00000398686:exon2:c.A115T:p.R39W;ENSG00000167210:ENST00000414184:exon2:c.A115T:p.R39W;ENSG00000167210:ENST00000536736:exon33:c.A5212T:p.R1738W;ENSG00000167210:ENST00000441893:exon14:c.A2011T:p.R671W;ENSG00000167210:ENST00000452425:exon2:c.A166T:p.R56W;ENSG00000167210:ENST00000398722:exon27:c.A4564T:p.R1522W;ENSG00000167210:ENST00000579038:exon14:c.A1777T:p.R593W;ENSG00000167210:ENST00000582408:exon14:c.A1879T:p.R627W;	0.999261160028455	0.984
18	44098093	T	C	18	46518130	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.A5212G:p.R1738G;LOXHD1:NM_001173129:exon2:c.A115G:p.R39G;LOXHD1:NM_001145473:exon2:c.A115G:p.R39G;LOXHD1:NM_001145472:exon16:c.A2065G:p.R689G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.A4780G:p.R1594G;ENSG00000167210:ENST00000300591:exon16:c.A2065G:p.R689G;ENSG00000167210:ENST00000398705:exon2:c.A115G:p.R39G;ENSG00000167210:ENST00000398686:exon2:c.A115G:p.R39G;ENSG00000167210:ENST00000414184:exon2:c.A115G:p.R39G;ENSG00000167210:ENST00000536736:exon33:c.A5212G:p.R1738G;ENSG00000167210:ENST00000441893:exon14:c.A2011G:p.R671G;ENSG00000167210:ENST00000452425:exon2:c.A166G:p.R56G;ENSG00000167210:ENST00000398722:exon27:c.A4564G:p.R1522G;ENSG00000167210:ENST00000579038:exon14:c.A1777G:p.R593G;ENSG00000167210:ENST00000582408:exon14:c.A1879G:p.R627G;	0.99874453632207	0.962
18	44098093	T	G	18	46518130	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon33:c.A5212C:p.R1738R;LOXHD1:NM_001173129:exon2:c.A115C:p.R39R;LOXHD1:NM_001145473:exon2:c.A115C:p.R39R;LOXHD1:NM_001145472:exon16:c.A2065C:p.R689R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.A4780C:p.R1594R;ENSG00000167210:ENST00000300591:exon16:c.A2065C:p.R689R;ENSG00000167210:ENST00000398705:exon2:c.A115C:p.R39R;ENSG00000167210:ENST00000398686:exon2:c.A115C:p.R39R;ENSG00000167210:ENST00000414184:exon2:c.A115C:p.R39R;ENSG00000167210:ENST00000536736:exon33:c.A5212C:p.R1738R;ENSG00000167210:ENST00000441893:exon14:c.A2011C:p.R671R;ENSG00000167210:ENST00000452425:exon2:c.A166C:p.R56R;ENSG00000167210:ENST00000398722:exon27:c.A4564C:p.R1522R;ENSG00000167210:ENST00000579038:exon14:c.A1777C:p.R593R;ENSG00000167210:ENST00000582408:exon14:c.A1879C:p.R627R;	0.999597487231757	0.982
18	44098094	G	A	18	46518131	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon33:c.C5211T:p.A1737A;LOXHD1:NM_001173129:exon2:c.C114T:p.A38A;LOXHD1:NM_001145473:exon2:c.C114T:p.A38A;LOXHD1:NM_001145472:exon16:c.C2064T:p.A688A;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.C4779T:p.A1593A;ENSG00000167210:ENST00000300591:exon16:c.C2064T:p.A688A;ENSG00000167210:ENST00000398705:exon2:c.C114T:p.A38A;ENSG00000167210:ENST00000398686:exon2:c.C114T:p.A38A;ENSG00000167210:ENST00000414184:exon2:c.C114T:p.A38A;ENSG00000167210:ENST00000536736:exon33:c.C5211T:p.A1737A;ENSG00000167210:ENST00000441893:exon14:c.C2010T:p.A670A;ENSG00000167210:ENST00000452425:exon2:c.C165T:p.A55A;ENSG00000167210:ENST00000398722:exon27:c.C4563T:p.A1521A;ENSG00000167210:ENST00000579038:exon14:c.C1776T:p.A592A;ENSG00000167210:ENST00000582408:exon14:c.C1878T:p.A626A;	0.934262950808127	0.742
18	44098094	G	C	18	46518131	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon33:c.C5211G:p.A1737A;LOXHD1:NM_001173129:exon2:c.C114G:p.A38A;LOXHD1:NM_001145473:exon2:c.C114G:p.A38A;LOXHD1:NM_001145472:exon16:c.C2064G:p.A688A;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.C4779G:p.A1593A;ENSG00000167210:ENST00000300591:exon16:c.C2064G:p.A688A;ENSG00000167210:ENST00000398705:exon2:c.C114G:p.A38A;ENSG00000167210:ENST00000398686:exon2:c.C114G:p.A38A;ENSG00000167210:ENST00000414184:exon2:c.C114G:p.A38A;ENSG00000167210:ENST00000536736:exon33:c.C5211G:p.A1737A;ENSG00000167210:ENST00000441893:exon14:c.C2010G:p.A670A;ENSG00000167210:ENST00000452425:exon2:c.C165G:p.A55A;ENSG00000167210:ENST00000398722:exon27:c.C4563G:p.A1521A;ENSG00000167210:ENST00000579038:exon14:c.C1776G:p.A592A;ENSG00000167210:ENST00000582408:exon14:c.C1878G:p.A626A;	0.0328784377946285	0.252
18	44098094	G	T	18	46518131	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon33:c.C5211A:p.A1737A;LOXHD1:NM_001173129:exon2:c.C114A:p.A38A;LOXHD1:NM_001145473:exon2:c.C114A:p.A38A;LOXHD1:NM_001145472:exon16:c.C2064A:p.A688A;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.C4779A:p.A1593A;ENSG00000167210:ENST00000300591:exon16:c.C2064A:p.A688A;ENSG00000167210:ENST00000398705:exon2:c.C114A:p.A38A;ENSG00000167210:ENST00000398686:exon2:c.C114A:p.A38A;ENSG00000167210:ENST00000414184:exon2:c.C114A:p.A38A;ENSG00000167210:ENST00000536736:exon33:c.C5211A:p.A1737A;ENSG00000167210:ENST00000441893:exon14:c.C2010A:p.A670A;ENSG00000167210:ENST00000452425:exon2:c.C165A:p.A55A;ENSG00000167210:ENST00000398722:exon27:c.C4563A:p.A1521A;ENSG00000167210:ENST00000579038:exon14:c.C1776A:p.A592A;ENSG00000167210:ENST00000582408:exon14:c.C1878A:p.A626A;	0.0311330316932636	0.26
18	44098218	A	C	18	46518255	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.T5087G:p.V1696G;LOXHD1:NM_001145472:exon16:c.T1940G:p.V647G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.T4655G:p.V1552G;ENSG00000167210:ENST00000300591:exon16:c.T1940G:p.V647G;ENSG00000167210:ENST00000536736:exon33:c.T5087G:p.V1696G;ENSG00000167210:ENST00000441893:exon14:c.T1886G:p.V629G;ENSG00000167210:ENST00000452425:exon2:c.T41G:p.V14G;ENSG00000167210:ENST00000398722:exon27:c.T4439G:p.V1480G;ENSG00000167210:ENST00000579038:exon14:c.T1652G:p.V551G;ENSG00000167210:ENST00000582408:exon14:c.T1754G:p.V585G;	0.00193769537830054	0.082
18	44098218	A	G	18	46518255	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.T5087C:p.V1696A;LOXHD1:NM_001145472:exon16:c.T1940C:p.V647A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.T4655C:p.V1552A;ENSG00000167210:ENST00000300591:exon16:c.T1940C:p.V647A;ENSG00000167210:ENST00000536736:exon33:c.T5087C:p.V1696A;ENSG00000167210:ENST00000441893:exon14:c.T1886C:p.V629A;ENSG00000167210:ENST00000452425:exon2:c.T41C:p.V14A;ENSG00000167210:ENST00000398722:exon27:c.T4439C:p.V1480A;ENSG00000167210:ENST00000579038:exon14:c.T1652C:p.V551A;ENSG00000167210:ENST00000582408:exon14:c.T1754C:p.V585A;	0.00337903595070244	0.1
18	44098218	A	T	18	46518255	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.T5087A:p.V1696D;LOXHD1:NM_001145472:exon16:c.T1940A:p.V647D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.T4655A:p.V1552D;ENSG00000167210:ENST00000300591:exon16:c.T1940A:p.V647D;ENSG00000167210:ENST00000536736:exon33:c.T5087A:p.V1696D;ENSG00000167210:ENST00000441893:exon14:c.T1886A:p.V629D;ENSG00000167210:ENST00000452425:exon2:c.T41A:p.V14D;ENSG00000167210:ENST00000398722:exon27:c.T4439A:p.V1480D;ENSG00000167210:ENST00000579038:exon14:c.T1652A:p.V551D;ENSG00000167210:ENST00000582408:exon14:c.T1754A:p.V585D;	0.00218354898256306	0.072
18	44098219	C	A	18	46518256	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.G5086T:p.V1696F;LOXHD1:NM_001145472:exon16:c.G1939T:p.V647F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.G4654T:p.V1552F;ENSG00000167210:ENST00000300591:exon16:c.G1939T:p.V647F;ENSG00000167210:ENST00000536736:exon33:c.G5086T:p.V1696F;ENSG00000167210:ENST00000441893:exon14:c.G1885T:p.V629F;ENSG00000167210:ENST00000452425:exon2:c.G40T:p.V14F;ENSG00000167210:ENST00000398722:exon27:c.G4438T:p.V1480F;ENSG00000167210:ENST00000579038:exon14:c.G1651T:p.V551F;ENSG00000167210:ENST00000582408:exon14:c.G1753T:p.V585F;	0.63225862632463	0.534
18	44098219	C	G	18	46518256	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.G5086C:p.V1696L;LOXHD1:NM_001145472:exon16:c.G1939C:p.V647L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.G4654C:p.V1552L;ENSG00000167210:ENST00000300591:exon16:c.G1939C:p.V647L;ENSG00000167210:ENST00000536736:exon33:c.G5086C:p.V1696L;ENSG00000167210:ENST00000441893:exon14:c.G1885C:p.V629L;ENSG00000167210:ENST00000452425:exon2:c.G40C:p.V14L;ENSG00000167210:ENST00000398722:exon27:c.G4438C:p.V1480L;ENSG00000167210:ENST00000579038:exon14:c.G1651C:p.V551L;ENSG00000167210:ENST00000582408:exon14:c.G1753C:p.V585L;	0.532210531563366	0.548
18	44098219	C	T	18	46518256	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon33:c.G5086A:p.V1696I;LOXHD1:NM_001145472:exon16:c.G1939A:p.V647I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon32:c.G4654A:p.V1552I;ENSG00000167210:ENST00000300591:exon16:c.G1939A:p.V647I;ENSG00000167210:ENST00000536736:exon33:c.G5086A:p.V1696I;ENSG00000167210:ENST00000441893:exon14:c.G1885A:p.V629I;ENSG00000167210:ENST00000452425:exon2:c.G40A:p.V14I;ENSG00000167210:ENST00000398722:exon27:c.G4438A:p.V1480I;ENSG00000167210:ENST00000579038:exon14:c.G1651A:p.V551I;ENSG00000167210:ENST00000582408:exon14:c.G1753A:p.V585I;	0.0982863693219657	0.47
18	44098220	C	A	18	46518257	y	y	splicing	LOXHD1(NM_001145472:exon17:c.1939-1G>T;NM_144612:exon34:c.5086-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.1939-1G>T;ENST00000398722:exon28:c.4438-1G>T;ENST00000579038:exon15:c.1651-1G>T;ENST00000441893:exon15:c.1885-1G>T;ENST00000536736:exon34:c.5086-1G>T;ENST00000582408:exon15:c.1753-1G>T;ENST00000441551:exon33:c.4654-1G>T;ENST00000452425:exon3:c.40-1G>T)	.	.	0.99994568797423	0.94
18	44098220	C	G	18	46518257	y	y	splicing	LOXHD1(NM_001145472:exon17:c.1939-1G>C;NM_144612:exon34:c.5086-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.1939-1G>C;ENST00000398722:exon28:c.4438-1G>C;ENST00000579038:exon15:c.1651-1G>C;ENST00000441893:exon15:c.1885-1G>C;ENST00000536736:exon34:c.5086-1G>C;ENST00000582408:exon15:c.1753-1G>C;ENST00000441551:exon33:c.4654-1G>C;ENST00000452425:exon3:c.40-1G>C)	.	.	0.99994568797423	0.946
18	44098220	C	T	18	46518257	y	y	splicing	LOXHD1(NM_001145472:exon17:c.1939-1G>A;NM_144612:exon34:c.5086-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.1939-1G>A;ENST00000398722:exon28:c.4438-1G>A;ENST00000579038:exon15:c.1651-1G>A;ENST00000441893:exon15:c.1885-1G>A;ENST00000536736:exon34:c.5086-1G>A;ENST00000582408:exon15:c.1753-1G>A;ENST00000441551:exon33:c.4654-1G>A;ENST00000452425:exon3:c.40-1G>A)	.	.	0.99994568797423	0.94
18	44098221	T	A	18	46518258	y	y	splicing	LOXHD1(NM_001145472:exon17:c.1939-2A>T;NM_144612:exon34:c.5086-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.1939-2A>T;ENST00000398722:exon28:c.4438-2A>T;ENST00000579038:exon15:c.1651-2A>T;ENST00000441893:exon15:c.1885-2A>T;ENST00000536736:exon34:c.5086-2A>T;ENST00000582408:exon15:c.1753-2A>T;ENST00000441551:exon33:c.4654-2A>T;ENST00000452425:exon3:c.40-2A>T)	.	.	0.999978278263889	0.944
18	44098221	T	C	18	46518258	y	y	splicing	LOXHD1(NM_001145472:exon17:c.1939-2A>G;NM_144612:exon34:c.5086-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.1939-2A>G;ENST00000398722:exon28:c.4438-2A>G;ENST00000579038:exon15:c.1651-2A>G;ENST00000441893:exon15:c.1885-2A>G;ENST00000536736:exon34:c.5086-2A>G;ENST00000582408:exon15:c.1753-2A>G;ENST00000441551:exon33:c.4654-2A>G;ENST00000452425:exon3:c.40-2A>G)	.	.	0.9999784785434	0.946
18	44098221	T	G	18	46518258	y	y	splicing	LOXHD1(NM_001145472:exon17:c.1939-2A>C;NM_144612:exon34:c.5086-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon17:c.1939-2A>C;ENST00000398722:exon28:c.4438-2A>C;ENST00000579038:exon15:c.1651-2A>C;ENST00000441893:exon15:c.1885-2A>C;ENST00000536736:exon34:c.5086-2A>C;ENST00000582408:exon15:c.1753-2A>C;ENST00000441551:exon33:c.4654-2A>C;ENST00000452425:exon3:c.40-2A>C)	.	.	0.9999784785434	0.946
18	44098222	G	A	18	46518259	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0146838328981141	0.192
18	44098222	G	C	18	46518259	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.9986034450986	0.956
18	44098222	G	T	18	46518259	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.927887227141058	0.72
18	44098223	C	A	18	46518260	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.90180526844169E-5	0.016
18	44098223	C	G	18	46518260	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.32216130413224E-5	0.004
18	44098223	C	T	18	46518260	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.13398689968719E-5	0.0
18	44098224	C	A	18	46518261	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.84835011591905E-5	0.008
18	44098224	C	G	18	46518261	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.90684700689007E-5	0.018
18	44098224	C	T	18	46518261	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.882806333584327	0.788
18	44098225	A	C	18	46518262	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.98117259599209	0.812
18	44098225	A	G	18	46518262	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.277820594309E-5	0.002
18	44098225	A	T	18	46518262	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994186619394477	0.862
18	44098226	T	A	18	46518263	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.250243698046E-5	0.0
18	44098226	T	C	18	46518263	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.82152694110954E-6	0.0
18	44098226	T	G	18	46518263	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.24462446772325E-5	0.004
18	44098227	G	A	18	46518264	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.87746293220781E-5	0.052
18	44098227	G	C	18	46518264	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00801036327801069	0.1
18	44098227	G	T	18	46518264	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00515876175201731	0.102
18	44098228	A	C	18	46518265	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0159691938909928	0.144
18	44098228	A	G	18	46518265	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.06355842842055E-4	0.002
18	44098228	A	T	18	46518265	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.068178142794321	0.21
18	44098229	G	A	18	46518266	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.65965658795311E-5	0.0
18	44098229	G	C	18	46518266	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00126395140616195	0.036
18	44098229	G	T	18	46518266	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.83687106155927E-4	0.036
18	44098230	A	C	18	46518267	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.20174024913469	0.324
18	44098230	A	G	18	46518267	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.94802837531029E-4	0.046
18	44098230	A	T	18	46518267	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.471766430742491	0.336
18	44098231	G	A	18	46518268	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.1542959749291E-5	0.0
18	44098231	G	C	18	46518268	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00322151113118099	0.126
18	44098231	G	T	18	46518268	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0045432162155495	0.094
18	44098834	A	C	18	46518871	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.80109675654916E-5	0.0
18	44098834	A	G	18	46518871	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.80109675654916E-5	0.008
18	44098834	A	T	18	46518871	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.80109675654916E-5	0.0
18	44098835	T	A	18	46518872	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.15941453541388E-5	0.006
18	44098835	T	C	18	46518872	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.89925739660516E-5	0.01
18	44098835	T	G	18	46518872	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.89925739660516E-5	0.01
18	44098836	T	A	18	46518873	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.03736096199351E-5	0.0
18	44098836	T	C	18	46518873	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.96638438091922E-5	0.0
18	44098836	T	G	18	46518873	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.96638438091922E-5	0.0
18	44098837	C	A	18	46518874	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.48519371611462E-5	0.0
18	44098837	C	G	18	46518874	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.48519371611462E-5	0.0
18	44098837	C	T	18	46518874	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.48519371611462E-5	0.0
18	44098838	T	A	18	46518875	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.70337218186484E-5	0.024
18	44098838	T	C	18	46518875	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.10275622159801E-5	0.0
18	44098838	T	G	18	46518875	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.10275622159801E-5	0.0
18	44098839	T	A	18	46518876	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.807631105028E-4	0.01
18	44098839	T	C	18	46518876	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.18154394036611E-4	0.01
18	44098839	T	G	18	46518876	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.18154394036611E-4	0.01
18	44098840	A	C	18	46518877	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	5.32941630131073E-6	0.004
18	44098840	A	G	18	46518877	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	5.32941630131073E-6	0.004
18	44098840	A	T	18	46518877	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	5.32941630131073E-6	0.004
18	44098841	C	A	18	46518878	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44098841	C	G	18	46518878	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44098841	C	T	18	46518878	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44098842	A	C	18	46518879	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.78864525412067E-5	0.0
18	44098842	A	G	18	46518879	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.78864525412067E-5	0.0
18	44098842	A	T	18	46518879	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.78864525412067E-5	0.0
18	44098843	G	A	18	46518880	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.60815764102212E-5	0.006
18	44098843	G	C	18	46518880	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.60815764102212E-5	0.01
18	44098843	G	T	18	46518880	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.60815764102212E-5	0.006
18	44098844	A	C	18	46518881	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.96653435898131E-5	0.0
18	44098844	A	G	18	46518881	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.96653435898131E-5	0.0
18	44098844	A	T	18	46518881	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.96653435898131E-5	0.0
18	44100253	C	A	18	46520290	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00109463253663742	0.02
18	44100253	C	G	18	46520290	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.22860045406435E-4	0.02
18	44100253	C	T	18	46520290	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00113359844054187	0.02
18	44100254	T	A	18	46520291	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.16682635439002E-5	0.0
18	44100254	T	C	18	46520291	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.39083642728588E-5	0.0
18	44100254	T	G	18	46520291	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.39083642728588E-5	0.0
18	44100255	T	A	18	46520292	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.19523722086209E-5	0.0
18	44100255	T	C	18	46520292	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.19523722086209E-5	0.0
18	44100255	T	G	18	46520292	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.19523722086209E-5	0.0
18	44100256	C	A	18	46520293	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.69930370103191E-5	0.0
18	44100256	C	G	18	46520293	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.69930370103191E-5	0.0
18	44100256	C	T	18	46520293	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.84893575895825E-5	0.0
18	44100257	T	A	18	46520294	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73945161719343E-4	0.0
18	44100257	T	C	18	46520294	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.48263522724759E-4	0.002
18	44100257	T	G	18	46520294	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.48263522724759E-4	0.0
18	44100258	C	A	18	46520295	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.27237026149931E-5	0.0
18	44100258	C	G	18	46520295	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.27237026149931E-5	0.0
18	44100258	C	T	18	46520295	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.27237026149931E-5	0.0
18	44100259	A	C	18	46520296	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000452425:exon2:c.39+2T>G)	.	.	5.16682635439002E-5	0.0
18	44100259	A	G	18	46520296	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000452425:exon2:c.39+2T>C)	.	.	5.16682635439002E-5	0.0
18	44100259	A	T	18	46520296	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000452425:exon2:c.39+2T>A)	.	.	1.38652481526464E-4	0.0
18	44100260	C	A	18	46520297	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000452425:exon2:c.39+1G>T)	.	.	9.30495912515022E-5	0.0
18	44100260	C	G	18	46520297	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000452425:exon2:c.39+1G>C)	.	.	9.30495912515022E-5	0.0
18	44100260	C	T	18	46520297	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000452425:exon2:c.39+1G>A)	.	.	9.30495912515022E-5	0.0
18	44100261	C	A	18	46520298	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000452425:exon1:c.G39T:p.K13N;	1.32658667526046E-4	0.002
18	44100261	C	G	18	46520298	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000452425:exon1:c.G39C:p.K13N;	1.46226529156369E-4	0.002
18	44100261	C	T	18	46520298	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000452425:exon1:c.G39A:p.K13K;	1.44101454748109E-4	0.004
18	44100262	T	A	18	46520299	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000452425:exon1:c.A38T:p.K13M;	0.0121701272279887	0.16
18	44100262	T	C	18	46520299	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000452425:exon1:c.A38G:p.K13R;	0.00579929449245677	0.042
18	44100262	T	G	18	46520299	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000452425:exon1:c.A38C:p.K13T;	0.0121701272279887	0.098
18	44100263	T	A	18	46520300	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000452425:exon1:c.A37T:p.K13X;	1.61714762508588E-4	0.342
18	44100263	T	C	18	46520300	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000452425:exon1:c.A37G:p.K13E;	9.05214370486973E-5	0.004
18	44100263	T	G	18	46520300	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000452425:exon1:c.A37C:p.K13Q;	5.63534827835342E-5	0.01
18	44100532	G	A	18	46520569	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.97728621093963E-5	0.0
18	44100532	G	C	18	46520569	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.2886448328189E-5	0.0
18	44100532	G	T	18	46520569	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.2886448328189E-5	0.0
18	44100533	C	A	18	46520570	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.97728621093963E-5	0.0
18	44100533	C	G	18	46520570	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.2886448328189E-5	0.0
18	44100533	C	T	18	46520570	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.97728621093963E-5	0.0
18	44100534	T	A	18	46520571	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.30245828806351E-5	0.004
18	44100534	T	C	18	46520571	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	9.63734018024452E-5	0.004
18	44100534	T	G	18	46520571	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	9.63734018024452E-5	0.004
18	44100535	C	A	18	46520572	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.44782069694124E-5	0.002
18	44100535	C	G	18	46520572	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.44782069694124E-5	0.002
18	44100535	C	T	18	46520572	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.44782069694124E-5	0.002
18	44100536	A	C	18	46520573	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	8.73196147837547E-5	0.0
18	44100536	A	G	18	46520573	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	8.73196147837547E-5	0.0
18	44100536	A	T	18	46520573	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	9.63734018024452E-5	0.0
18	44100537	G	A	18	46520574	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.51565364503696E-4	0.002
18	44100537	G	C	18	46520574	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.48483453972026E-4	0.004
18	44100537	G	T	18	46520574	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.48483453972026E-4	0.004
18	44100538	A	C	18	46520575	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	5.5529151830241E-5	0.0
18	44100538	A	G	18	46520575	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	5.5529151830241E-5	0.008
18	44100538	A	T	18	46520575	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	5.5529151830241E-5	0.0
18	44100539	C	A	18	46520576	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.05567792764038E-5	0.002
18	44100539	C	G	18	46520576	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.05567792764038E-5	0.004
18	44100539	C	T	18	46520576	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.05567792764038E-5	0.002
18	44100540	C	A	18	46520577	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	6.91564032431422E-5	0.0
18	44100540	C	G	18	46520577	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	6.91564032431422E-5	0.0
18	44100540	C	T	18	46520577	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	6.91564032431422E-5	0.002
18	44100541	T	A	18	46520578	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	4.50687661477519E-4	0.018
18	44100541	T	C	18	46520578	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.12389939835004E-4	0.018
18	44100541	T	G	18	46520578	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	4.50687661477519E-4	0.018
18	44100542	C	A	18	46520579	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	2.46039206459424E-4	0.002
18	44100542	C	G	18	46520579	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	2.46039206459424E-4	0.002
18	44100542	C	T	18	46520579	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	2.46039206459424E-4	0.002
18	44101052	C	A	18	46521089	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.54918145166468E-4	0.018
18	44101052	C	G	18	46521089	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.71267056476718E-4	0.008
18	44101052	C	T	18	46521089	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.54918145166468E-4	0.008
18	44101053	C	A	18	46521090	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.83012778346984E-4	0.09
18	44101053	C	G	18	46521090	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.83012778346984E-4	0.032
18	44101053	C	T	18	46521090	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.25161466422243E-4	0.014
18	44101054	C	A	18	46521091	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.21662807230942E-4	0.0
18	44101054	C	G	18	46521091	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.21662807230942E-4	0.0
18	44101054	C	T	18	46521091	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.43695982579905E-4	0.006
18	44101055	C	A	18	46521092	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.71406022660188E-5	0.0
18	44101055	C	G	18	46521092	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.71406022660188E-5	0.0
18	44101055	C	T	18	46521092	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.71406022660188E-5	0.0
18	44101056	C	A	18	46521093	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.3957358345244E-4	0.014
18	44101056	C	G	18	46521093	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.9920955617261E-4	0.002
18	44101056	C	T	18	46521093	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.91017441597401E-4	0.006
18	44101057	T	A	18	46521094	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00386570099128344	0.094
18	44101057	T	C	18	46521094	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00234880510691395	0.002
18	44101057	T	G	18	46521094	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00234880510691395	0.004
18	44101058	A	C	18	46521095	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1938+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1938+2T>G;ENST00000398722:exon27:c.4437+2T>G;ENST00000579038:exon14:c.1650+2T>G;ENST00000441551:exon32:c.4653+2T>G)	.	.	0.849794866623675	0.728
18	44101058	A	G	18	46521095	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1938+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1938+2T>C;ENST00000398722:exon27:c.4437+2T>C;ENST00000579038:exon14:c.1650+2T>C;ENST00000441551:exon32:c.4653+2T>C)	.	.	0.849794866623675	0.73
18	44101058	A	T	18	46521095	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1938+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1938+2T>A;ENST00000398722:exon27:c.4437+2T>A;ENST00000579038:exon14:c.1650+2T>A;ENST00000441551:exon32:c.4653+2T>A)	.	.	0.849794866623675	0.732
18	44101059	C	A	18	46521096	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1938+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1938+1G>T;ENST00000398722:exon27:c.4437+1G>T;ENST00000579038:exon14:c.1650+1G>T;ENST00000441551:exon32:c.4653+1G>T)	.	.	0.974123920317395	0.756
18	44101059	C	G	18	46521096	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1938+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1938+1G>C;ENST00000398722:exon27:c.4437+1G>C;ENST00000579038:exon14:c.1650+1G>C;ENST00000441551:exon32:c.4653+1G>C)	.	.	0.974530118583425	0.744
18	44101059	C	T	18	46521096	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1938+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1938+1G>A;ENST00000398722:exon27:c.4437+1G>A;ENST00000579038:exon14:c.1650+1G>A;ENST00000441551:exon32:c.4653+1G>A)	.	.	0.974123920317395	0.766
18	44101060	C	A	18	46521097	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.G1938T:p.K646N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.G4653T:p.K1551N;ENSG00000167210:ENST00000300591:exon15:c.G1938T:p.K646N;ENSG00000167210:ENST00000398722:exon26:c.G4437T:p.K1479N;ENSG00000167210:ENST00000579038:exon13:c.G1650T:p.K550N;	0.971204767669291	0.774
18	44101060	C	G	18	46521097	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.G1938C:p.K646N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.G4653C:p.K1551N;ENSG00000167210:ENST00000300591:exon15:c.G1938C:p.K646N;ENSG00000167210:ENST00000398722:exon26:c.G4437C:p.K1479N;ENSG00000167210:ENST00000579038:exon13:c.G1650C:p.K550N;	0.971204767669291	0.776
18	44101060	C	T	18	46521097	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_001145472:exon15:c.G1938A:p.K646K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.G4653A:p.K1551K;ENSG00000167210:ENST00000300591:exon15:c.G1938A:p.K646K;ENSG00000167210:ENST00000398722:exon26:c.G4437A:p.K1479K;ENSG00000167210:ENST00000579038:exon13:c.G1650A:p.K550K;	0.644416238726742	0.504
18	44101061	T	A	18	46521098	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.A1937T:p.K646M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.A4652T:p.K1551M;ENSG00000167210:ENST00000300591:exon15:c.A1937T:p.K646M;ENSG00000167210:ENST00000398722:exon26:c.A4436T:p.K1479M;ENSG00000167210:ENST00000579038:exon13:c.A1649T:p.K550M;	0.849794866623675	0.73
18	44101061	T	C	18	46521098	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.A1937G:p.K646R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.A4652G:p.K1551R;ENSG00000167210:ENST00000300591:exon15:c.A1937G:p.K646R;ENSG00000167210:ENST00000398722:exon26:c.A4436G:p.K1479R;ENSG00000167210:ENST00000579038:exon13:c.A1649G:p.K550R;	0.805982474439116	0.688
18	44101061	T	G	18	46521098	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.A1937C:p.K646T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.A4652C:p.K1551T;ENSG00000167210:ENST00000300591:exon15:c.A1937C:p.K646T;ENSG00000167210:ENST00000398722:exon26:c.A4436C:p.K1479T;ENSG00000167210:ENST00000579038:exon13:c.A1649C:p.K550T;	0.805515200933953	0.67
18	44101062	T	A	18	46521099	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_001145472:exon15:c.A1936T:p.K646X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon31:c.A4651T:p.K1551X;ENSG00000167210:ENST00000300591:exon15:c.A1936T:p.K646X;ENSG00000167210:ENST00000398722:exon26:c.A4435T:p.K1479X;ENSG00000167210:ENST00000579038:exon13:c.A1648T:p.K550X;	0.125908689652831	0.412
18	44101062	T	C	18	46521099	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.A1936G:p.K646E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.A4651G:p.K1551E;ENSG00000167210:ENST00000300591:exon15:c.A1936G:p.K646E;ENSG00000167210:ENST00000398722:exon26:c.A4435G:p.K1479E;ENSG00000167210:ENST00000579038:exon13:c.A1648G:p.K550E;	0.0772839218062099	0.226
18	44101062	T	G	18	46521099	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.A1936C:p.K646Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.A4651C:p.K1551Q;ENSG00000167210:ENST00000300591:exon15:c.A1936C:p.K646Q;ENSG00000167210:ENST00000398722:exon26:c.A4435C:p.K1479Q;ENSG00000167210:ENST00000579038:exon13:c.A1648C:p.K550Q;	0.0579370398021417	0.214
18	44101244	A	C	18	46521281	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.T1754G:p.L585R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.T4469G:p.L1490R;ENSG00000167210:ENST00000300591:exon15:c.T1754G:p.L585R;ENSG00000167210:ENST00000398722:exon26:c.T4253G:p.L1418R;ENSG00000167210:ENST00000579038:exon13:c.T1466G:p.L489R;	0.842083969210184	0.766
18	44101244	A	G	18	46521281	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.T1754C:p.L585P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.T4469C:p.L1490P;ENSG00000167210:ENST00000300591:exon15:c.T1754C:p.L585P;ENSG00000167210:ENST00000398722:exon26:c.T4253C:p.L1418P;ENSG00000167210:ENST00000579038:exon13:c.T1466C:p.L489P;	0.842083969210184	0.768
18	44101244	A	T	18	46521281	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.T1754A:p.L585Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.T4469A:p.L1490Q;ENSG00000167210:ENST00000300591:exon15:c.T1754A:p.L585Q;ENSG00000167210:ENST00000398722:exon26:c.T4253A:p.L1418Q;ENSG00000167210:ENST00000579038:exon13:c.T1466A:p.L489Q;	0.842083969210184	0.762
18	44101245	G	A	18	46521282	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_001145472:exon15:c.C1753T:p.L585L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.C4468T:p.L1490L;ENSG00000167210:ENST00000300591:exon15:c.C1753T:p.L585L;ENSG00000167210:ENST00000398722:exon26:c.C4252T:p.L1418L;ENSG00000167210:ENST00000579038:exon13:c.C1465T:p.L489L;	0.0360308182460083	0.164
18	44101245	G	C	18	46521282	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.C1753G:p.L585V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.C4468G:p.L1490V;ENSG00000167210:ENST00000300591:exon15:c.C1753G:p.L585V;ENSG00000167210:ENST00000398722:exon26:c.C4252G:p.L1418V;ENSG00000167210:ENST00000579038:exon13:c.C1465G:p.L489V;	0.0301782520260356	0.102
18	44101245	G	T	18	46521282	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_001145472:exon15:c.C1753A:p.L585M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon31:c.C4468A:p.L1490M;ENSG00000167210:ENST00000300591:exon15:c.C1753A:p.L585M;ENSG00000167210:ENST00000398722:exon26:c.C4252A:p.L1418M;ENSG00000167210:ENST00000579038:exon13:c.C1465A:p.L489M;	0.968059288083426	0.694
18	44101246	C	A	18	46521283	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1753-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1753-1G>T;ENST00000398722:exon27:c.4252-1G>T;ENST00000579038:exon14:c.1465-1G>T;ENST00000441551:exon32:c.4468-1G>T)	.	.	0.96681717288621	0.77
18	44101246	C	G	18	46521283	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1753-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1753-1G>C;ENST00000398722:exon27:c.4252-1G>C;ENST00000579038:exon14:c.1465-1G>C;ENST00000441551:exon32:c.4468-1G>C)	.	.	0.974123920317395	0.768
18	44101246	C	T	18	46521283	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1753-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1753-1G>A;ENST00000398722:exon27:c.4252-1G>A;ENST00000579038:exon14:c.1465-1G>A;ENST00000441551:exon32:c.4468-1G>A)	.	.	0.96681717288621	0.774
18	44101247	T	A	18	46521284	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1753-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1753-2A>T;ENST00000398722:exon27:c.4252-2A>T;ENST00000579038:exon14:c.1465-2A>T;ENST00000441551:exon32:c.4468-2A>T)	.	.	0.849794866623675	0.75
18	44101247	T	C	18	46521284	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1753-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1753-2A>G;ENST00000398722:exon27:c.4252-2A>G;ENST00000579038:exon14:c.1465-2A>G;ENST00000441551:exon32:c.4468-2A>G)	.	.	0.849794866623675	0.718
18	44101247	T	G	18	46521284	y	y	splicing	LOXHD1(NM_001145472:exon16:c.1753-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon16:c.1753-2A>C;ENST00000398722:exon27:c.4252-2A>C;ENST00000579038:exon14:c.1465-2A>C;ENST00000441551:exon32:c.4468-2A>C)	.	.	0.849794866623675	0.718
18	44101248	A	C	18	46521285	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.24488743691315E-5	0.0
18	44101248	A	G	18	46521285	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.24488743691315E-5	0.0
18	44101248	A	T	18	46521285	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.36232061203922E-5	0.0
18	44101249	G	A	18	46521286	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.22733753243156E-4	0.008
18	44101249	G	C	18	46521286	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.02608436300017E-4	0.008
18	44101249	G	T	18	46521286	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.22733753243156E-4	0.008
18	44101250	G	A	18	46521287	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.34691366058294E-5	0.06
18	44101250	G	C	18	46521287	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.34691366058294E-5	0.006
18	44101250	G	T	18	46521287	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.34691366058294E-5	0.088
18	44101251	A	C	18	46521288	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.24048926620467E-5	0.03
18	44101251	A	G	18	46521288	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.24048926620467E-5	0.032
18	44101251	A	T	18	46521288	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.24048926620467E-5	0.044
18	44101252	G	A	18	46521289	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.94081116995207E-4	0.01
18	44101252	G	C	18	46521289	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.35658515895286E-4	0.012
18	44101252	G	T	18	46521289	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.94081116995207E-4	0.016
18	44101253	G	A	18	46521290	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.02147149369138E-4	0.002
18	44101253	G	C	18	46521290	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.60264020989559E-4	0.004
18	44101253	G	T	18	46521290	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.02147149369138E-4	0.022
18	44101254	A	C	18	46521291	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.7795387500613E-5	0.056
18	44101254	A	G	18	46521291	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.7795387500613E-5	0.056
18	44101254	A	T	18	46521291	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07666983909475E-5	0.032
18	44101255	G	A	18	46521292	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0138480731013608	0.154
18	44101255	G	C	18	46521292	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0105951379110869	0.14
18	44101255	G	T	18	46521292	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0118142238508242	0.152
18	44101256	A	C	18	46521293	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.68609664277082E-4	0.106
18	44101256	A	G	18	46521293	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.68609664277082E-4	0.106
18	44101256	A	T	18	46521293	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.2109178828777E-4	0.108
18	44101257	C	A	18	46521294	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.87158752049118E-5	0.03
18	44101257	C	G	18	46521294	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.11759989332364E-4	0.038
18	44101257	C	T	18	46521294	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.87158752049118E-5	0.034
18	44102056	G	A	18	46522093	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.63174167353894E-5	0.0
18	44102056	G	C	18	46522093	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.06483465390157E-5	0.0
18	44102056	G	T	18	46522093	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.04860152160254E-5	0.0
18	44102057	C	A	18	46522094	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.04102925622307E-4	0.042
18	44102057	C	G	18	46522094	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.54999802562846E-5	0.014
18	44102057	C	T	18	46522094	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.60195442731498E-5	0.02
18	44102058	C	A	18	46522095	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.9570886924053E-4	0.052
18	44102058	C	G	18	46522095	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00173283157342894	0.114
18	44102058	C	T	18	46522095	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0384148899634568	0.112
18	44102059	A	C	18	46522096	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.66709386355589E-4	0.086
18	44102059	A	G	18	46522096	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00110404247843992	0.1
18	44102059	A	T	18	46522096	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.57141063148602E-4	0.044
18	44102060	G	A	18	46522097	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.144246706386231	0.172
18	44102060	G	C	18	46522097	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.119627771867851	0.22
18	44102060	G	T	18	46522097	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.48395998163497E-4	0.15
18	44102061	C	A	18	46522098	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.981015900521907	0.77
18	44102061	C	G	18	46522098	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.966440210686866	0.754
18	44102061	C	T	18	46522098	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.17910802169033E-4	0.154
18	44102062	A	C	18	46522099	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1752+2T>G;NM_144612:exon33:c.5085+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1752+2T>G;ENST00000398722:exon26:c.4251+2T>G;ENST00000579038:exon13:c.1464+2T>G;ENST00000441893:exon14:c.1884+2T>G;ENST00000536736:exon33:c.5085+2T>G;ENST00000582408:exon14:c.1752+2T>G;ENST00000441551:exon31:c.4467+2T>G)	.	.	0.999992007541056	0.924
18	44102062	A	G	18	46522099	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1752+2T>C;NM_144612:exon33:c.5085+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1752+2T>C;ENST00000398722:exon26:c.4251+2T>C;ENST00000579038:exon13:c.1464+2T>C;ENST00000441893:exon14:c.1884+2T>C;ENST00000536736:exon33:c.5085+2T>C;ENST00000582408:exon14:c.1752+2T>C;ENST00000441551:exon31:c.4467+2T>C)	.	.	0.999987062370463	0.934
18	44102062	A	T	18	46522099	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1752+2T>A;NM_144612:exon33:c.5085+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1752+2T>A;ENST00000398722:exon26:c.4251+2T>A;ENST00000579038:exon13:c.1464+2T>A;ENST00000441893:exon14:c.1884+2T>A;ENST00000536736:exon33:c.5085+2T>A;ENST00000582408:exon14:c.1752+2T>A;ENST00000441551:exon31:c.4467+2T>A)	.	.	0.999992007541056	0.924
18	44102063	C	A	18	46522100	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1752+1G>T;NM_144612:exon33:c.5085+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1752+1G>T;ENST00000398722:exon26:c.4251+1G>T;ENST00000579038:exon13:c.1464+1G>T;ENST00000441893:exon14:c.1884+1G>T;ENST00000536736:exon33:c.5085+1G>T;ENST00000582408:exon14:c.1752+1G>T;ENST00000441551:exon31:c.4467+1G>T)	.	.	0.999990938371702	0.922
18	44102063	C	G	18	46522100	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1752+1G>C;NM_144612:exon33:c.5085+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1752+1G>C;ENST00000398722:exon26:c.4251+1G>C;ENST00000579038:exon13:c.1464+1G>C;ENST00000441893:exon14:c.1884+1G>C;ENST00000536736:exon33:c.5085+1G>C;ENST00000582408:exon14:c.1752+1G>C;ENST00000441551:exon31:c.4467+1G>C)	.	.	0.999990938371702	0.922
18	44102063	C	T	18	46522100	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1752+1G>A;NM_144612:exon33:c.5085+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1752+1G>A;ENST00000398722:exon26:c.4251+1G>A;ENST00000579038:exon13:c.1464+1G>A;ENST00000441893:exon14:c.1884+1G>A;ENST00000536736:exon33:c.5085+1G>A;ENST00000582408:exon14:c.1752+1G>A;ENST00000441551:exon31:c.4467+1G>A)	.	.	0.999990938371702	0.922
18	44102064	C	A	18	46522101	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.G5085T:p.E1695D;LOXHD1:NM_001145472:exon14:c.G1752T:p.E584D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.G4467T:p.E1489D;ENSG00000167210:ENST00000300591:exon14:c.G1752T:p.E584D;ENSG00000167210:ENST00000536736:exon32:c.G5085T:p.E1695D;ENSG00000167210:ENST00000441893:exon13:c.G1884T:p.E628D;ENSG00000167210:ENST00000398722:exon25:c.G4251T:p.E1417D;ENSG00000167210:ENST00000579038:exon12:c.G1464T:p.E488D;ENSG00000167210:ENST00000582408:exon13:c.G1752T:p.E584D;	0.99998922210367	0.998
18	44102064	C	G	18	46522101	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.G5085C:p.E1695D;LOXHD1:NM_001145472:exon14:c.G1752C:p.E584D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.G4467C:p.E1489D;ENSG00000167210:ENST00000300591:exon14:c.G1752C:p.E584D;ENSG00000167210:ENST00000536736:exon32:c.G5085C:p.E1695D;ENSG00000167210:ENST00000441893:exon13:c.G1884C:p.E628D;ENSG00000167210:ENST00000398722:exon25:c.G4251C:p.E1417D;ENSG00000167210:ENST00000579038:exon12:c.G1464C:p.E488D;ENSG00000167210:ENST00000582408:exon13:c.G1752C:p.E584D;	0.999996092573484	0.986
18	44102064	C	T	18	46522101	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon32:c.G5085A:p.E1695E;LOXHD1:NM_001145472:exon14:c.G1752A:p.E584E;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.G4467A:p.E1489E;ENSG00000167210:ENST00000300591:exon14:c.G1752A:p.E584E;ENSG00000167210:ENST00000536736:exon32:c.G5085A:p.E1695E;ENSG00000167210:ENST00000441893:exon13:c.G1884A:p.E628E;ENSG00000167210:ENST00000398722:exon25:c.G4251A:p.E1417E;ENSG00000167210:ENST00000579038:exon12:c.G1464A:p.E488E;ENSG00000167210:ENST00000582408:exon13:c.G1752A:p.E584E;	0.999986062678168	0.998
18	44102065	T	A	18	46522102	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.A5084T:p.E1695V;LOXHD1:NM_001145472:exon14:c.A1751T:p.E584V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.A4466T:p.E1489V;ENSG00000167210:ENST00000300591:exon14:c.A1751T:p.E584V;ENSG00000167210:ENST00000536736:exon32:c.A5084T:p.E1695V;ENSG00000167210:ENST00000441893:exon13:c.A1883T:p.E628V;ENSG00000167210:ENST00000398722:exon25:c.A4250T:p.E1417V;ENSG00000167210:ENST00000579038:exon12:c.A1463T:p.E488V;ENSG00000167210:ENST00000582408:exon13:c.A1751T:p.E584V;	0.999310383990418	0.992
18	44102065	T	C	18	46522102	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.A5084G:p.E1695G;LOXHD1:NM_001145472:exon14:c.A1751G:p.E584G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.A4466G:p.E1489G;ENSG00000167210:ENST00000300591:exon14:c.A1751G:p.E584G;ENSG00000167210:ENST00000536736:exon32:c.A5084G:p.E1695G;ENSG00000167210:ENST00000441893:exon13:c.A1883G:p.E628G;ENSG00000167210:ENST00000398722:exon25:c.A4250G:p.E1417G;ENSG00000167210:ENST00000579038:exon12:c.A1463G:p.E488G;ENSG00000167210:ENST00000582408:exon13:c.A1751G:p.E584G;	0.999541592317347	0.972
18	44102065	T	G	18	46522102	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.A5084C:p.E1695A;LOXHD1:NM_001145472:exon14:c.A1751C:p.E584A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.A4466C:p.E1489A;ENSG00000167210:ENST00000300591:exon14:c.A1751C:p.E584A;ENSG00000167210:ENST00000536736:exon32:c.A5084C:p.E1695A;ENSG00000167210:ENST00000441893:exon13:c.A1883C:p.E628A;ENSG00000167210:ENST00000398722:exon25:c.A4250C:p.E1417A;ENSG00000167210:ENST00000579038:exon12:c.A1463C:p.E488A;ENSG00000167210:ENST00000582408:exon13:c.A1751C:p.E584A;	0.999531950606622	0.97
18	44102066	C	A	18	46522103	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon32:c.G5083T:p.E1695X;LOXHD1:NM_001145472:exon14:c.G1750T:p.E584X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon30:c.G4465T:p.E1489X;ENSG00000167210:ENST00000300591:exon14:c.G1750T:p.E584X;ENSG00000167210:ENST00000536736:exon32:c.G5083T:p.E1695X;ENSG00000167210:ENST00000441893:exon13:c.G1882T:p.E628X;ENSG00000167210:ENST00000398722:exon25:c.G4249T:p.E1417X;ENSG00000167210:ENST00000579038:exon12:c.G1462T:p.E488X;ENSG00000167210:ENST00000582408:exon13:c.G1750T:p.E584X;	0.985389622646471	0.736
18	44102066	C	G	18	46522103	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.G5083C:p.E1695Q;LOXHD1:NM_001145472:exon14:c.G1750C:p.E584Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.G4465C:p.E1489Q;ENSG00000167210:ENST00000300591:exon14:c.G1750C:p.E584Q;ENSG00000167210:ENST00000536736:exon32:c.G5083C:p.E1695Q;ENSG00000167210:ENST00000441893:exon13:c.G1882C:p.E628Q;ENSG00000167210:ENST00000398722:exon25:c.G4249C:p.E1417Q;ENSG00000167210:ENST00000579038:exon12:c.G1462C:p.E488Q;ENSG00000167210:ENST00000582408:exon13:c.G1750C:p.E584Q;	0.796565826018142	0.552
18	44102066	C	T	18	46522103	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.G5083A:p.E1695K;LOXHD1:NM_001145472:exon14:c.G1750A:p.E584K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.G4465A:p.E1489K;ENSG00000167210:ENST00000300591:exon14:c.G1750A:p.E584K;ENSG00000167210:ENST00000536736:exon32:c.G5083A:p.E1695K;ENSG00000167210:ENST00000441893:exon13:c.G1882A:p.E628K;ENSG00000167210:ENST00000398722:exon25:c.G4249A:p.E1417K;ENSG00000167210:ENST00000579038:exon12:c.G1462A:p.E488K;ENSG00000167210:ENST00000582408:exon13:c.G1750A:p.E584K;	0.942439532637597	0.732
18	44102271	A	C	18	46522308	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.T4878G:p.I1626M;LOXHD1:NM_001145472:exon14:c.T1545G:p.I515M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.T4260G:p.I1420M;ENSG00000167210:ENST00000300591:exon14:c.T1545G:p.I515M;ENSG00000167210:ENST00000536736:exon32:c.T4878G:p.I1626M;ENSG00000167210:ENST00000441893:exon13:c.T1677G:p.I559M;ENSG00000167210:ENST00000398722:exon25:c.T4044G:p.I1348M;ENSG00000167210:ENST00000579038:exon12:c.T1257G:p.I419M;ENSG00000167210:ENST00000582408:exon13:c.T1545G:p.I515M;	7.69590762659656E-4	0.232
18	44102271	A	G	18	46522308	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon32:c.T4878C:p.I1626I;LOXHD1:NM_001145472:exon14:c.T1545C:p.I515I;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.T4260C:p.I1420I;ENSG00000167210:ENST00000300591:exon14:c.T1545C:p.I515I;ENSG00000167210:ENST00000536736:exon32:c.T4878C:p.I1626I;ENSG00000167210:ENST00000441893:exon13:c.T1677C:p.I559I;ENSG00000167210:ENST00000398722:exon25:c.T4044C:p.I1348I;ENSG00000167210:ENST00000579038:exon12:c.T1257C:p.I419I;ENSG00000167210:ENST00000582408:exon13:c.T1545C:p.I515I;	3.16131625270246E-4	0.072
18	44102271	A	T	18	46522308	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon32:c.T4878A:p.I1626I;LOXHD1:NM_001145472:exon14:c.T1545A:p.I515I;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.T4260A:p.I1420I;ENSG00000167210:ENST00000300591:exon14:c.T1545A:p.I515I;ENSG00000167210:ENST00000536736:exon32:c.T4878A:p.I1626I;ENSG00000167210:ENST00000441893:exon13:c.T1677A:p.I559I;ENSG00000167210:ENST00000398722:exon25:c.T4044A:p.I1348I;ENSG00000167210:ENST00000579038:exon12:c.T1257A:p.I419I;ENSG00000167210:ENST00000582408:exon13:c.T1545A:p.I515I;	1.41355202150375E-4	0.056
18	44102272	A	C	18	46522309	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.T4877G:p.I1626S;LOXHD1:NM_001145472:exon14:c.T1544G:p.I515S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.T4259G:p.I1420S;ENSG00000167210:ENST00000300591:exon14:c.T1544G:p.I515S;ENSG00000167210:ENST00000536736:exon32:c.T4877G:p.I1626S;ENSG00000167210:ENST00000441893:exon13:c.T1676G:p.I559S;ENSG00000167210:ENST00000398722:exon25:c.T4043G:p.I1348S;ENSG00000167210:ENST00000579038:exon12:c.T1256G:p.I419S;ENSG00000167210:ENST00000582408:exon13:c.T1544G:p.I515S;	0.020275577431948	0.25
18	44102272	A	G	18	46522309	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.T4877C:p.I1626T;LOXHD1:NM_001145472:exon14:c.T1544C:p.I515T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.T4259C:p.I1420T;ENSG00000167210:ENST00000300591:exon14:c.T1544C:p.I515T;ENSG00000167210:ENST00000536736:exon32:c.T4877C:p.I1626T;ENSG00000167210:ENST00000441893:exon13:c.T1676C:p.I559T;ENSG00000167210:ENST00000398722:exon25:c.T4043C:p.I1348T;ENSG00000167210:ENST00000579038:exon12:c.T1256C:p.I419T;ENSG00000167210:ENST00000582408:exon13:c.T1544C:p.I515T;	0.00766823301310935	0.126
18	44102272	A	T	18	46522309	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon32:c.T4877A:p.I1626N;LOXHD1:NM_001145472:exon14:c.T1544A:p.I515N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon30:c.T4259A:p.I1420N;ENSG00000167210:ENST00000300591:exon14:c.T1544A:p.I515N;ENSG00000167210:ENST00000536736:exon32:c.T4877A:p.I1626N;ENSG00000167210:ENST00000441893:exon13:c.T1676A:p.I559N;ENSG00000167210:ENST00000398722:exon25:c.T4043A:p.I1348N;ENSG00000167210:ENST00000579038:exon12:c.T1256A:p.I419N;ENSG00000167210:ENST00000582408:exon13:c.T1544A:p.I515N;	0.0132904508544589	0.262
18	44102273	C	A	18	46522310	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1544-1G>T;NM_144612:exon33:c.4877-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1544-1G>T;ENST00000398722:exon26:c.4043-1G>T;ENST00000579038:exon13:c.1256-1G>T;ENST00000441893:exon14:c.1676-1G>T;ENST00000536736:exon33:c.4877-1G>T;ENST00000582408:exon14:c.1544-1G>T;ENST00000441551:exon31:c.4259-1G>T)	.	.	0.999989528922238	0.936
18	44102273	C	G	18	46522310	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1544-1G>C;NM_144612:exon33:c.4877-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1544-1G>C;ENST00000398722:exon26:c.4043-1G>C;ENST00000579038:exon13:c.1256-1G>C;ENST00000441893:exon14:c.1676-1G>C;ENST00000536736:exon33:c.4877-1G>C;ENST00000582408:exon14:c.1544-1G>C;ENST00000441551:exon31:c.4259-1G>C)	.	.	0.999989528922238	0.936
18	44102273	C	T	18	46522310	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1544-1G>A;NM_144612:exon33:c.4877-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1544-1G>A;ENST00000398722:exon26:c.4043-1G>A;ENST00000579038:exon13:c.1256-1G>A;ENST00000441893:exon14:c.1676-1G>A;ENST00000536736:exon33:c.4877-1G>A;ENST00000582408:exon14:c.1544-1G>A;ENST00000441551:exon31:c.4259-1G>A)	.	.	0.999989528922238	0.936
18	44102274	T	A	18	46522311	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1544-2A>T;NM_144612:exon33:c.4877-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1544-2A>T;ENST00000398722:exon26:c.4043-2A>T;ENST00000579038:exon13:c.1256-2A>T;ENST00000441893:exon14:c.1676-2A>T;ENST00000536736:exon33:c.4877-2A>T;ENST00000582408:exon14:c.1544-2A>T;ENST00000441551:exon31:c.4259-2A>T)	.	.	0.999992076683048	0.932
18	44102274	T	C	18	46522311	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1544-2A>G;NM_144612:exon33:c.4877-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1544-2A>G;ENST00000398722:exon26:c.4043-2A>G;ENST00000579038:exon13:c.1256-2A>G;ENST00000441893:exon14:c.1676-2A>G;ENST00000536736:exon33:c.4877-2A>G;ENST00000582408:exon14:c.1544-2A>G;ENST00000441551:exon31:c.4259-2A>G)	.	.	0.999992076683048	0.932
18	44102274	T	G	18	46522311	y	y	splicing	LOXHD1(NM_001145472:exon15:c.1544-2A>C;NM_144612:exon33:c.4877-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon15:c.1544-2A>C;ENST00000398722:exon26:c.4043-2A>C;ENST00000579038:exon13:c.1256-2A>C;ENST00000441893:exon14:c.1676-2A>C;ENST00000536736:exon33:c.4877-2A>C;ENST00000582408:exon14:c.1544-2A>C;ENST00000441551:exon31:c.4259-2A>C)	.	.	0.999992076683048	0.932
18	44102275	G	A	18	46522312	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.86144221092362	0.42
18	44102275	G	C	18	46522312	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999979923799265	0.984
18	44102275	G	T	18	46522312	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99870280839451	0.928
18	44102276	C	A	18	46522313	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.98427718074216E-5	0.002
18	44102276	C	G	18	46522313	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.78447123484426E-5	0.004
18	44102276	C	T	18	46522313	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.60030285414464E-4	0.004
18	44102277	A	C	18	46522314	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.92012075149806	0.708
18	44102277	A	G	18	46522314	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00219929865292683	0.122
18	44102277	A	T	18	46522314	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.9997168069041	0.936
18	44102278	A	C	18	46522315	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.331368796858386	0.632
18	44102278	A	G	18	46522315	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.34117038389579E-4	0.012
18	44102278	A	T	18	46522315	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.845669052306479	0.698
18	44102279	G	A	18	46522316	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00143055129056293	0.066
18	44102279	G	C	18	46522316	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.454542147180222	0.414
18	44102279	G	T	18	46522316	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.428953161127182	0.384
18	44102280	A	C	18	46522317	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.666766176835215	0.568
18	44102280	A	G	18	46522317	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.79115085291148E-4	0.008
18	44102280	A	T	18	46522317	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.802765683772492	0.676
18	44102281	G	A	18	46522318	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.905418809507317	0.502
18	44102281	G	C	18	46522318	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.887714753695615	0.622
18	44102281	G	T	18	46522318	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.962289338600438	0.678
18	44102282	A	C	18	46522319	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999959463401188	0.964
18	44102282	A	G	18	46522319	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.186048240059052	0.366
18	44102282	A	T	18	46522319	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998321407729613	0.892
18	44102283	T	A	18	46522320	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00110045525092866	0.134
18	44102283	T	C	18	46522320	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.19194847867021E-5	0.002
18	44102283	T	G	18	46522320	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.83545813689645E-4	0.002
18	44102284	C	A	18	46522321	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.91787005443595E-5	0.002
18	44102284	C	G	18	46522321	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.26673812467252E-5	0.002
18	44102284	C	T	18	46522321	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.1918968263345E-4	0.09
18	44104421	T	A	18	46524458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.64745399314608E-5	0.0
18	44104421	T	C	18	46524458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.30477579161392E-5	0.0
18	44104421	T	G	18	46524458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.26501254653793E-5	0.0
18	44104422	G	A	18	46524459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.13806764536946E-5	0.0
18	44104422	G	C	18	46524459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.78596454976996E-5	0.0
18	44104422	G	T	18	46524459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.78596454976996E-5	0.0
18	44104423	G	A	18	46524460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.47614602322881E-5	0.022
18	44104423	G	C	18	46524460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.04161980041208E-4	0.03
18	44104423	G	T	18	46524460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.40113451441183E-4	0.002
18	44104424	C	A	18	46524461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999994574433215	0.982
18	44104424	C	G	18	46524461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999927407101931	0.94
18	44104424	C	T	18	46524461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999948369661166	0.96
18	44104425	T	A	18	46524462	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.939682538023674	0.6
18	44104425	T	C	18	46524462	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.933155044308182	0.602
18	44104425	T	G	18	46524462	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.420787373316679	0.424
18	44104426	T	A	18	46524463	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999684495917401	0.882
18	44104426	T	C	18	46524463	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00125319379804477	0.096
18	44104426	T	G	18	46524463	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999684495917401	0.872
18	44104427	A	C	18	46524464	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1543+2T>G;NM_144612:exon32:c.4876+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1543+2T>G;ENST00000398722:exon25:c.4042+2T>G;ENST00000579038:exon12:c.1255+2T>G;ENST00000441893:exon13:c.1675+2T>G;ENST00000536736:exon32:c.4876+2T>G;ENST00000582408:exon13:c.1543+2T>G;ENST00000441551:exon30:c.4258+2T>G)	.	.	0.999978278263889	0.944
18	44104427	A	G	18	46524464	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1543+2T>C;NM_144612:exon32:c.4876+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1543+2T>C;ENST00000398722:exon25:c.4042+2T>C;ENST00000579038:exon12:c.1255+2T>C;ENST00000441893:exon13:c.1675+2T>C;ENST00000536736:exon32:c.4876+2T>C;ENST00000582408:exon13:c.1543+2T>C;ENST00000441551:exon30:c.4258+2T>C)	.	.	0.966090320230724	0.622
18	44104427	A	T	18	46524464	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1543+2T>A;NM_144612:exon32:c.4876+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1543+2T>A;ENST00000398722:exon25:c.4042+2T>A;ENST00000579038:exon12:c.1255+2T>A;ENST00000441893:exon13:c.1675+2T>A;ENST00000536736:exon32:c.4876+2T>A;ENST00000582408:exon13:c.1543+2T>A;ENST00000441551:exon30:c.4258+2T>A)	.	.	0.999978278263889	0.938
18	44104428	C	A	18	46524465	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1543+1G>T;NM_144612:exon32:c.4876+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1543+1G>T;ENST00000398722:exon25:c.4042+1G>T;ENST00000579038:exon12:c.1255+1G>T;ENST00000441893:exon13:c.1675+1G>T;ENST00000536736:exon32:c.4876+1G>T;ENST00000582408:exon13:c.1543+1G>T;ENST00000441551:exon30:c.4258+1G>T)	.	.	0.99994568797423	0.952
18	44104428	C	G	18	46524465	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1543+1G>C;NM_144612:exon32:c.4876+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1543+1G>C;ENST00000398722:exon25:c.4042+1G>C;ENST00000579038:exon12:c.1255+1G>C;ENST00000441893:exon13:c.1675+1G>C;ENST00000536736:exon32:c.4876+1G>C;ENST00000582408:exon13:c.1543+1G>C;ENST00000441551:exon30:c.4258+1G>C)	.	.	0.99994568797423	0.952
18	44104428	C	T	18	46524465	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1543+1G>A;NM_144612:exon32:c.4876+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1543+1G>A;ENST00000398722:exon25:c.4042+1G>A;ENST00000579038:exon12:c.1255+1G>A;ENST00000441893:exon13:c.1675+1G>A;ENST00000536736:exon32:c.4876+1G>A;ENST00000582408:exon13:c.1543+1G>A;ENST00000441551:exon30:c.4258+1G>A)	.	.	0.99994568797423	0.946
18	44104429	T	A	18	46524466	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.A4876T:p.I1626F;LOXHD1:NM_001145472:exon13:c.A1543T:p.I515F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4258T:p.I1420F;ENSG00000167210:ENST00000300591:exon13:c.A1543T:p.I515F;ENSG00000167210:ENST00000536736:exon31:c.A4876T:p.I1626F;ENSG00000167210:ENST00000441893:exon12:c.A1675T:p.I559F;ENSG00000167210:ENST00000398722:exon24:c.A4042T:p.I1348F;ENSG00000167210:ENST00000579038:exon11:c.A1255T:p.I419F;ENSG00000167210:ENST00000582408:exon12:c.A1543T:p.I515F;	5.53279017407405E-4	0.06
18	44104429	T	C	18	46524466	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.A4876G:p.I1626V;LOXHD1:NM_001145472:exon13:c.A1543G:p.I515V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4258G:p.I1420V;ENSG00000167210:ENST00000300591:exon13:c.A1543G:p.I515V;ENSG00000167210:ENST00000536736:exon31:c.A4876G:p.I1626V;ENSG00000167210:ENST00000441893:exon12:c.A1675G:p.I559V;ENSG00000167210:ENST00000398722:exon24:c.A4042G:p.I1348V;ENSG00000167210:ENST00000579038:exon11:c.A1255G:p.I419V;ENSG00000167210:ENST00000582408:exon12:c.A1543G:p.I515V;	2.83139440888752E-5	0.05
18	44104429	T	G	18	46524466	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.A4876C:p.I1626L;LOXHD1:NM_001145472:exon13:c.A1543C:p.I515L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4258C:p.I1420L;ENSG00000167210:ENST00000300591:exon13:c.A1543C:p.I515L;ENSG00000167210:ENST00000536736:exon31:c.A4876C:p.I1626L;ENSG00000167210:ENST00000441893:exon12:c.A1675C:p.I559L;ENSG00000167210:ENST00000398722:exon24:c.A4042C:p.I1348L;ENSG00000167210:ENST00000579038:exon11:c.A1255C:p.I419L;ENSG00000167210:ENST00000582408:exon12:c.A1543C:p.I515L;	1.15537019559372E-4	0.062
18	44104430	T	A	18	46524467	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon31:c.A4875T:p.P1625P;LOXHD1:NM_001145472:exon13:c.A1542T:p.P514P;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4257T:p.P1419P;ENSG00000167210:ENST00000300591:exon13:c.A1542T:p.P514P;ENSG00000167210:ENST00000536736:exon31:c.A4875T:p.P1625P;ENSG00000167210:ENST00000441893:exon12:c.A1674T:p.P558P;ENSG00000167210:ENST00000398722:exon24:c.A4041T:p.P1347P;ENSG00000167210:ENST00000579038:exon11:c.A1254T:p.P418P;ENSG00000167210:ENST00000582408:exon12:c.A1542T:p.P514P;	0.904058292060477	0.554
18	44104430	T	C	18	46524467	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon31:c.A4875G:p.P1625P;LOXHD1:NM_001145472:exon13:c.A1542G:p.P514P;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4257G:p.P1419P;ENSG00000167210:ENST00000300591:exon13:c.A1542G:p.P514P;ENSG00000167210:ENST00000536736:exon31:c.A4875G:p.P1625P;ENSG00000167210:ENST00000441893:exon12:c.A1674G:p.P558P;ENSG00000167210:ENST00000398722:exon24:c.A4041G:p.P1347P;ENSG00000167210:ENST00000579038:exon11:c.A1254G:p.P418P;ENSG00000167210:ENST00000582408:exon12:c.A1542G:p.P514P;	0.380228259078001	0.622
18	44104430	T	G	18	46524467	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon31:c.A4875C:p.P1625P;LOXHD1:NM_001145472:exon13:c.A1542C:p.P514P;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4257C:p.P1419P;ENSG00000167210:ENST00000300591:exon13:c.A1542C:p.P514P;ENSG00000167210:ENST00000536736:exon31:c.A4875C:p.P1625P;ENSG00000167210:ENST00000441893:exon12:c.A1674C:p.P558P;ENSG00000167210:ENST00000398722:exon24:c.A4041C:p.P1347P;ENSG00000167210:ENST00000579038:exon11:c.A1254C:p.P418P;ENSG00000167210:ENST00000582408:exon12:c.A1542C:p.P514P;	0.90935804358989	0.62
18	44104431	G	A	18	46524468	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.C4874T:p.P1625L;LOXHD1:NM_001145472:exon13:c.C1541T:p.P514L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.C4256T:p.P1419L;ENSG00000167210:ENST00000300591:exon13:c.C1541T:p.P514L;ENSG00000167210:ENST00000536736:exon31:c.C4874T:p.P1625L;ENSG00000167210:ENST00000441893:exon12:c.C1673T:p.P558L;ENSG00000167210:ENST00000398722:exon24:c.C4040T:p.P1347L;ENSG00000167210:ENST00000579038:exon11:c.C1253T:p.P418L;ENSG00000167210:ENST00000582408:exon12:c.C1541T:p.P514L;	0.362236516989484	0.396
18	44104431	G	C	18	46524468	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.C4874G:p.P1625R;LOXHD1:NM_001145472:exon13:c.C1541G:p.P514R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.C4256G:p.P1419R;ENSG00000167210:ENST00000300591:exon13:c.C1541G:p.P514R;ENSG00000167210:ENST00000536736:exon31:c.C4874G:p.P1625R;ENSG00000167210:ENST00000441893:exon12:c.C1673G:p.P558R;ENSG00000167210:ENST00000398722:exon24:c.C4040G:p.P1347R;ENSG00000167210:ENST00000579038:exon11:c.C1253G:p.P418R;ENSG00000167210:ENST00000582408:exon12:c.C1541G:p.P514R;	2.86501622866446E-4	0.1
18	44104431	G	T	18	46524468	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.C4874A:p.P1625Q;LOXHD1:NM_001145472:exon13:c.C1541A:p.P514Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.C4256A:p.P1419Q;ENSG00000167210:ENST00000300591:exon13:c.C1541A:p.P514Q;ENSG00000167210:ENST00000536736:exon31:c.C4874A:p.P1625Q;ENSG00000167210:ENST00000441893:exon12:c.C1673A:p.P558Q;ENSG00000167210:ENST00000398722:exon24:c.C4040A:p.P1347Q;ENSG00000167210:ENST00000579038:exon11:c.C1253A:p.P418Q;ENSG00000167210:ENST00000582408:exon12:c.C1541A:p.P514Q;	8.28183174838051E-4	0.034
18	44104563	T	A	18	46524600	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.A4742T:p.E1581V;LOXHD1:NM_001145472:exon13:c.A1409T:p.E470V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4124T:p.E1375V;ENSG00000167210:ENST00000300591:exon13:c.A1409T:p.E470V;ENSG00000167210:ENST00000536736:exon31:c.A4742T:p.E1581V;ENSG00000167210:ENST00000441893:exon12:c.A1541T:p.E514V;ENSG00000167210:ENST00000398722:exon24:c.A3908T:p.E1303V;ENSG00000167210:ENST00000579038:exon11:c.A1121T:p.E374V;ENSG00000167210:ENST00000582408:exon12:c.A1409T:p.E470V;	0.00725396389827457	0.046
18	44104563	T	C	18	46524600	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.A4742G:p.E1581G;LOXHD1:NM_001145472:exon13:c.A1409G:p.E470G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4124G:p.E1375G;ENSG00000167210:ENST00000300591:exon13:c.A1409G:p.E470G;ENSG00000167210:ENST00000536736:exon31:c.A4742G:p.E1581G;ENSG00000167210:ENST00000441893:exon12:c.A1541G:p.E514G;ENSG00000167210:ENST00000398722:exon24:c.A3908G:p.E1303G;ENSG00000167210:ENST00000579038:exon11:c.A1121G:p.E374G;ENSG00000167210:ENST00000582408:exon12:c.A1409G:p.E470G;	0.00920523723452213	0.034
18	44104563	T	G	18	46524600	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.A4742C:p.E1581A;LOXHD1:NM_001145472:exon13:c.A1409C:p.E470A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.A4124C:p.E1375A;ENSG00000167210:ENST00000300591:exon13:c.A1409C:p.E470A;ENSG00000167210:ENST00000536736:exon31:c.A4742C:p.E1581A;ENSG00000167210:ENST00000441893:exon12:c.A1541C:p.E514A;ENSG00000167210:ENST00000398722:exon24:c.A3908C:p.E1303A;ENSG00000167210:ENST00000579038:exon11:c.A1121C:p.E374A;ENSG00000167210:ENST00000582408:exon12:c.A1409C:p.E470A;	0.00984541460615622	0.06
18	44104564	C	A	18	46524601	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon31:c.G4741T:p.E1581X;LOXHD1:NM_001145472:exon13:c.G1408T:p.E470X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon29:c.G4123T:p.E1375X;ENSG00000167210:ENST00000300591:exon13:c.G1408T:p.E470X;ENSG00000167210:ENST00000536736:exon31:c.G4741T:p.E1581X;ENSG00000167210:ENST00000441893:exon12:c.G1540T:p.E514X;ENSG00000167210:ENST00000398722:exon24:c.G3907T:p.E1303X;ENSG00000167210:ENST00000579038:exon11:c.G1120T:p.E374X;ENSG00000167210:ENST00000582408:exon12:c.G1408T:p.E470X;	0.99985788415331	0.978
18	44104564	C	G	18	46524601	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.G4741C:p.E1581Q;LOXHD1:NM_001145472:exon13:c.G1408C:p.E470Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.G4123C:p.E1375Q;ENSG00000167210:ENST00000300591:exon13:c.G1408C:p.E470Q;ENSG00000167210:ENST00000536736:exon31:c.G4741C:p.E1581Q;ENSG00000167210:ENST00000441893:exon12:c.G1540C:p.E514Q;ENSG00000167210:ENST00000398722:exon24:c.G3907C:p.E1303Q;ENSG00000167210:ENST00000579038:exon11:c.G1120C:p.E374Q;ENSG00000167210:ENST00000582408:exon12:c.G1408C:p.E470Q;	0.931434547888489	0.776
18	44104564	C	T	18	46524601	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon31:c.G4741A:p.E1581K;LOXHD1:NM_001145472:exon13:c.G1408A:p.E470K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon29:c.G4123A:p.E1375K;ENSG00000167210:ENST00000300591:exon13:c.G1408A:p.E470K;ENSG00000167210:ENST00000536736:exon31:c.G4741A:p.E1581K;ENSG00000167210:ENST00000441893:exon12:c.G1540A:p.E514K;ENSG00000167210:ENST00000398722:exon24:c.G3907A:p.E1303K;ENSG00000167210:ENST00000579038:exon11:c.G1120A:p.E374K;ENSG00000167210:ENST00000582408:exon12:c.G1408A:p.E470K;	0.917927284677872	0.74
18	44104565	C	A	18	46524602	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1408-1G>T;NM_144612:exon32:c.4741-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1408-1G>T;ENST00000398722:exon25:c.3907-1G>T;ENST00000579038:exon12:c.1120-1G>T;ENST00000441893:exon13:c.1540-1G>T;ENST00000536736:exon32:c.4741-1G>T;ENST00000582408:exon13:c.1408-1G>T;ENST00000441551:exon30:c.4123-1G>T)	.	.	0.999978952611685	0.934
18	44104565	C	G	18	46524602	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1408-1G>C;NM_144612:exon32:c.4741-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1408-1G>C;ENST00000398722:exon25:c.3907-1G>C;ENST00000579038:exon12:c.1120-1G>C;ENST00000441893:exon13:c.1540-1G>C;ENST00000536736:exon32:c.4741-1G>C;ENST00000582408:exon13:c.1408-1G>C;ENST00000441551:exon30:c.4123-1G>C)	.	.	0.999978952611685	0.932
18	44104565	C	T	18	46524602	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1408-1G>A;NM_144612:exon32:c.4741-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1408-1G>A;ENST00000398722:exon25:c.3907-1G>A;ENST00000579038:exon12:c.1120-1G>A;ENST00000441893:exon13:c.1540-1G>A;ENST00000536736:exon32:c.4741-1G>A;ENST00000582408:exon13:c.1408-1G>A;ENST00000441551:exon30:c.4123-1G>A)	.	.	0.999978952611685	0.934
18	44104566	T	A	18	46524603	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1408-2A>T;NM_144612:exon32:c.4741-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1408-2A>T;ENST00000398722:exon25:c.3907-2A>T;ENST00000579038:exon12:c.1120-2A>T;ENST00000441893:exon13:c.1540-2A>T;ENST00000536736:exon32:c.4741-2A>T;ENST00000582408:exon13:c.1408-2A>T;ENST00000441551:exon30:c.4123-2A>T)	.	.	0.999978278263889	0.926
18	44104566	T	C	18	46524603	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1408-2A>G;NM_144612:exon32:c.4741-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1408-2A>G;ENST00000398722:exon25:c.3907-2A>G;ENST00000579038:exon12:c.1120-2A>G;ENST00000441893:exon13:c.1540-2A>G;ENST00000536736:exon32:c.4741-2A>G;ENST00000582408:exon13:c.1408-2A>G;ENST00000441551:exon30:c.4123-2A>G)	.	.	0.999978278263889	0.93
18	44104566	T	G	18	46524603	y	y	splicing	LOXHD1(NM_001145472:exon14:c.1408-2A>C;NM_144612:exon32:c.4741-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon14:c.1408-2A>C;ENST00000398722:exon25:c.3907-2A>C;ENST00000579038:exon12:c.1120-2A>C;ENST00000441893:exon13:c.1540-2A>C;ENST00000536736:exon32:c.4741-2A>C;ENST00000582408:exon13:c.1408-2A>C;ENST00000441551:exon30:c.4123-2A>C)	.	.	0.999978278263889	0.93
18	44104567	G	A	18	46524604	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0180920323190117	0.192
18	44104567	G	C	18	46524604	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999250570141079	0.892
18	44104567	G	T	18	46524604	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.987831874985821	0.792
18	44104568	T	A	18	46524605	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.83842767113478E-4	0.01
18	44104568	T	C	18	46524605	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.28001151734084E-5	0.002
18	44104568	T	G	18	46524605	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.19806614590825E-5	0.012
18	44104569	G	A	18	46524606	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.0291873933743E-5	0.0
18	44104569	G	C	18	46524606	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.992407192643322	0.912
18	44104569	G	T	18	46524606	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.44329780471716E-4	0.082
18	44104570	T	A	18	46524607	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.250243698046E-5	0.002
18	44104570	T	C	18	46524607	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.19140197809463E-5	0.0
18	44104570	T	G	18	46524607	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.71799154742461E-5	0.01
18	44104571	G	A	18	46524608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.13257227150524E-5	0.0
18	44104571	G	C	18	46524608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00154774377374851	0.092
18	44104571	G	T	18	46524608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00553812218618658	0.096
18	44104572	G	A	18	46524609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.31212394293647E-5	0.0
18	44104572	G	C	18	46524609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00337620765702835	0.052
18	44104572	G	T	18	46524609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00118219721321782	0.026
18	44104573	G	A	18	46524610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.09879612263482E-5	0.0
18	44104573	G	C	18	46524610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00111001858823116	0.06
18	44104573	G	T	18	46524610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00198194480283702	0.038
18	44104574	A	C	18	46524611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0154976684279219	0.188
18	44104574	A	G	18	46524611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.88585788343453E-5	0.012
18	44104574	A	T	18	46524611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.10360825676075	0.214
18	44104575	G	A	18	46524612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.46204076771169E-4	0.008
18	44104575	G	C	18	46524612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00234856751496205	0.108
18	44104575	G	T	18	46524612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0115722121408775	0.126
18	44104576	A	C	18	46524613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.037832726420009	0.154
18	44104576	A	G	18	46524613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.29966460930204E-4	0.004
18	44104576	A	T	18	46524613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.104912308454333	0.25
18	44104663	T	A	18	46524700	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.585416616557E-5	0.0
18	44104663	T	C	18	46524700	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.585416616557E-5	0.0
18	44104663	T	G	18	46524700	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.26501254653793E-5	0.0
18	44104664	G	A	18	46524701	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.70381823841641E-5	0.002
18	44104664	G	C	18	46524701	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.80624034468338E-5	0.004
18	44104664	G	T	18	46524701	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.17486155721189E-5	0.0
18	44104665	G	A	18	46524702	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.34469293937031E-5	0.0
18	44104665	G	C	18	46524702	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.46153545362289E-5	0.04
18	44104665	G	T	18	46524702	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.74301968377167E-5	0.012
18	44104666	C	A	18	46524703	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.803667396325659	0.492
18	44104666	C	G	18	46524703	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.650791072125836	0.438
18	44104666	C	T	18	46524703	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.675289132461301	0.47
18	44104667	T	A	18	46524704	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.199984898489382	0.23
18	44104667	T	C	18	46524704	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0212823186418965	0.162
18	44104667	T	G	18	46524704	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0684602868901004	0.274
18	44104668	C	A	18	46524705	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.704072280537641	0.454
18	44104668	C	G	18	46524705	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0383358715036369	0.37
18	44104668	C	T	18	46524705	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.50598535497243E-5	0.0
18	44104669	A	C	18	46524706	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1407+2T>G;NM_144612:exon31:c.4740+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1407+2T>G;ENST00000398722:exon24:c.3906+2T>G;ENST00000579038:exon11:c.1119+2T>G;ENST00000441893:exon12:c.1539+2T>G;ENST00000536736:exon31:c.4740+2T>G;ENST00000582408:exon12:c.1407+2T>G;ENST00000441551:exon29:c.4122+2T>G)	.	.	0.999966514958823	0.946
18	44104669	A	G	18	46524706	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1407+2T>C;NM_144612:exon31:c.4740+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1407+2T>C;ENST00000398722:exon24:c.3906+2T>C;ENST00000579038:exon11:c.1119+2T>C;ENST00000441893:exon12:c.1539+2T>C;ENST00000536736:exon31:c.4740+2T>C;ENST00000582408:exon12:c.1407+2T>C;ENST00000441551:exon29:c.4122+2T>C)	.	.	0.999768196238813	0.91
18	44104669	A	T	18	46524706	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1407+2T>A;NM_144612:exon31:c.4740+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1407+2T>A;ENST00000398722:exon24:c.3906+2T>A;ENST00000579038:exon11:c.1119+2T>A;ENST00000441893:exon12:c.1539+2T>A;ENST00000536736:exon31:c.4740+2T>A;ENST00000582408:exon12:c.1407+2T>A;ENST00000441551:exon29:c.4122+2T>A)	.	.	0.999966203349492	0.944
18	44104670	C	A	18	46524707	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1407+1G>T;NM_144612:exon31:c.4740+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1407+1G>T;ENST00000398722:exon24:c.3906+1G>T;ENST00000579038:exon11:c.1119+1G>T;ENST00000441893:exon12:c.1539+1G>T;ENST00000536736:exon31:c.4740+1G>T;ENST00000582408:exon12:c.1407+1G>T;ENST00000441551:exon29:c.4122+1G>T)	.	.	0.99994568797423	0.942
18	44104670	C	G	18	46524707	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1407+1G>C;NM_144612:exon31:c.4740+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1407+1G>C;ENST00000398722:exon24:c.3906+1G>C;ENST00000579038:exon11:c.1119+1G>C;ENST00000441893:exon12:c.1539+1G>C;ENST00000536736:exon31:c.4740+1G>C;ENST00000582408:exon12:c.1407+1G>C;ENST00000441551:exon29:c.4122+1G>C)	.	.	0.99994568797423	0.942
18	44104670	C	T	18	46524707	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1407+1G>A;NM_144612:exon31:c.4740+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1407+1G>A;ENST00000398722:exon24:c.3906+1G>A;ENST00000579038:exon11:c.1119+1G>A;ENST00000441893:exon12:c.1539+1G>A;ENST00000536736:exon31:c.4740+1G>A;ENST00000582408:exon12:c.1407+1G>A;ENST00000441551:exon29:c.4122+1G>A)	.	.	0.99994568797423	0.93
18	44104671	C	A	18	46524708	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.G4740T:p.K1580N;LOXHD1:NM_001145472:exon12:c.G1407T:p.K469N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.G4122T:p.K1374N;ENSG00000167210:ENST00000300591:exon12:c.G1407T:p.K469N;ENSG00000167210:ENST00000536736:exon30:c.G4740T:p.K1580N;ENSG00000167210:ENST00000441893:exon11:c.G1539T:p.K513N;ENSG00000167210:ENST00000398722:exon23:c.G3906T:p.K1302N;ENSG00000167210:ENST00000579038:exon10:c.G1119T:p.K373N;ENSG00000167210:ENST00000582408:exon11:c.G1407T:p.K469N;	0.997408460854295	0.844
18	44104671	C	G	18	46524708	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.G4740C:p.K1580N;LOXHD1:NM_001145472:exon12:c.G1407C:p.K469N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.G4122C:p.K1374N;ENSG00000167210:ENST00000300591:exon12:c.G1407C:p.K469N;ENSG00000167210:ENST00000536736:exon30:c.G4740C:p.K1580N;ENSG00000167210:ENST00000441893:exon11:c.G1539C:p.K513N;ENSG00000167210:ENST00000398722:exon23:c.G3906C:p.K1302N;ENSG00000167210:ENST00000579038:exon10:c.G1119C:p.K373N;ENSG00000167210:ENST00000582408:exon11:c.G1407C:p.K469N;	0.999954852396176	0.88
18	44104671	C	T	18	46524708	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon30:c.G4740A:p.K1580K;LOXHD1:NM_001145472:exon12:c.G1407A:p.K469K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.G4122A:p.K1374K;ENSG00000167210:ENST00000300591:exon12:c.G1407A:p.K469K;ENSG00000167210:ENST00000536736:exon30:c.G4740A:p.K1580K;ENSG00000167210:ENST00000441893:exon11:c.G1539A:p.K513K;ENSG00000167210:ENST00000398722:exon23:c.G3906A:p.K1302K;ENSG00000167210:ENST00000579038:exon10:c.G1119A:p.K373K;ENSG00000167210:ENST00000582408:exon11:c.G1407A:p.K469K;	0.995376458779485	0.922
18	44104672	T	A	18	46524709	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.A4739T:p.K1580M;LOXHD1:NM_001145472:exon12:c.A1406T:p.K469M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.A4121T:p.K1374M;ENSG00000167210:ENST00000300591:exon12:c.A1406T:p.K469M;ENSG00000167210:ENST00000536736:exon30:c.A4739T:p.K1580M;ENSG00000167210:ENST00000441893:exon11:c.A1538T:p.K513M;ENSG00000167210:ENST00000398722:exon23:c.A3905T:p.K1302M;ENSG00000167210:ENST00000579038:exon10:c.A1118T:p.K373M;ENSG00000167210:ENST00000582408:exon11:c.A1406T:p.K469M;	0.950320107186869	0.738
18	44104672	T	C	18	46524709	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.A4739G:p.K1580R;LOXHD1:NM_001145472:exon12:c.A1406G:p.K469R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.A4121G:p.K1374R;ENSG00000167210:ENST00000300591:exon12:c.A1406G:p.K469R;ENSG00000167210:ENST00000536736:exon30:c.A4739G:p.K1580R;ENSG00000167210:ENST00000441893:exon11:c.A1538G:p.K513R;ENSG00000167210:ENST00000398722:exon23:c.A3905G:p.K1302R;ENSG00000167210:ENST00000579038:exon10:c.A1118G:p.K373R;ENSG00000167210:ENST00000582408:exon11:c.A1406G:p.K469R;	0.842600942048424	0.762
18	44104672	T	G	18	46524709	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.A4739C:p.K1580T;LOXHD1:NM_001145472:exon12:c.A1406C:p.K469T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.A4121C:p.K1374T;ENSG00000167210:ENST00000300591:exon12:c.A1406C:p.K469T;ENSG00000167210:ENST00000536736:exon30:c.A4739C:p.K1580T;ENSG00000167210:ENST00000441893:exon11:c.A1538C:p.K513T;ENSG00000167210:ENST00000398722:exon23:c.A3905C:p.K1302T;ENSG00000167210:ENST00000579038:exon10:c.A1118C:p.K373T;ENSG00000167210:ENST00000582408:exon11:c.A1406C:p.K469T;	0.664957823025255	0.664
18	44104673	T	A	18	46524710	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon30:c.A4738T:p.K1580X;LOXHD1:NM_001145472:exon12:c.A1405T:p.K469X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon28:c.A4120T:p.K1374X;ENSG00000167210:ENST00000300591:exon12:c.A1405T:p.K469X;ENSG00000167210:ENST00000536736:exon30:c.A4738T:p.K1580X;ENSG00000167210:ENST00000441893:exon11:c.A1537T:p.K513X;ENSG00000167210:ENST00000398722:exon23:c.A3904T:p.K1302X;ENSG00000167210:ENST00000579038:exon10:c.A1117T:p.K373X;ENSG00000167210:ENST00000582408:exon11:c.A1405T:p.K469X;	0.949146858826117	0.686
18	44104673	T	C	18	46524710	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.A4738G:p.K1580E;LOXHD1:NM_001145472:exon12:c.A1405G:p.K469E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.A4120G:p.K1374E;ENSG00000167210:ENST00000300591:exon12:c.A1405G:p.K469E;ENSG00000167210:ENST00000536736:exon30:c.A4738G:p.K1580E;ENSG00000167210:ENST00000441893:exon11:c.A1537G:p.K513E;ENSG00000167210:ENST00000398722:exon23:c.A3904G:p.K1302E;ENSG00000167210:ENST00000579038:exon10:c.A1117G:p.K373E;ENSG00000167210:ENST00000582408:exon11:c.A1405G:p.K469E;	0.00290229242834528	0.09
18	44104673	T	G	18	46524710	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.A4738C:p.K1580Q;LOXHD1:NM_001145472:exon12:c.A1405C:p.K469Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.A4120C:p.K1374Q;ENSG00000167210:ENST00000300591:exon12:c.A1405C:p.K469Q;ENSG00000167210:ENST00000536736:exon30:c.A4738C:p.K1580Q;ENSG00000167210:ENST00000441893:exon11:c.A1537C:p.K513Q;ENSG00000167210:ENST00000398722:exon23:c.A3904C:p.K1302Q;ENSG00000167210:ENST00000579038:exon10:c.A1117C:p.K373Q;ENSG00000167210:ENST00000582408:exon11:c.A1405C:p.K469Q;	0.00241116075556537	0.03
18	44104879	G	A	18	46524916	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.C4532T:p.A1511V;LOXHD1:NM_001145472:exon12:c.C1199T:p.A400V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.C3914T:p.A1305V;ENSG00000167210:ENST00000300591:exon12:c.C1199T:p.A400V;ENSG00000167210:ENST00000536736:exon30:c.C4532T:p.A1511V;ENSG00000167210:ENST00000441893:exon11:c.C1331T:p.A444V;ENSG00000167210:ENST00000398722:exon23:c.C3698T:p.A1233V;ENSG00000167210:ENST00000579038:exon10:c.C911T:p.A304V;ENSG00000167210:ENST00000582408:exon11:c.C1199T:p.A400V;	0.0133387963402309	0.074
18	44104879	G	C	18	46524916	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.C4532G:p.A1511G;LOXHD1:NM_001145472:exon12:c.C1199G:p.A400G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.C3914G:p.A1305G;ENSG00000167210:ENST00000300591:exon12:c.C1199G:p.A400G;ENSG00000167210:ENST00000536736:exon30:c.C4532G:p.A1511G;ENSG00000167210:ENST00000441893:exon11:c.C1331G:p.A444G;ENSG00000167210:ENST00000398722:exon23:c.C3698G:p.A1233G;ENSG00000167210:ENST00000579038:exon10:c.C911G:p.A304G;ENSG00000167210:ENST00000582408:exon11:c.C1199G:p.A400G;	0.00708782506227719	0.036
18	44104879	G	T	18	46524916	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.C4532A:p.A1511D;LOXHD1:NM_001145472:exon12:c.C1199A:p.A400D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.C3914A:p.A1305D;ENSG00000167210:ENST00000300591:exon12:c.C1199A:p.A400D;ENSG00000167210:ENST00000536736:exon30:c.C4532A:p.A1511D;ENSG00000167210:ENST00000441893:exon11:c.C1331A:p.A444D;ENSG00000167210:ENST00000398722:exon23:c.C3698A:p.A1233D;ENSG00000167210:ENST00000579038:exon10:c.C911A:p.A304D;ENSG00000167210:ENST00000582408:exon11:c.C1199A:p.A400D;	0.0196941797021185	0.138
18	44104880	C	A	18	46524917	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.G4531T:p.A1511S;LOXHD1:NM_001145472:exon12:c.G1198T:p.A400S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.G3913T:p.A1305S;ENSG00000167210:ENST00000300591:exon12:c.G1198T:p.A400S;ENSG00000167210:ENST00000536736:exon30:c.G4531T:p.A1511S;ENSG00000167210:ENST00000441893:exon11:c.G1330T:p.A444S;ENSG00000167210:ENST00000398722:exon23:c.G3697T:p.A1233S;ENSG00000167210:ENST00000579038:exon10:c.G910T:p.A304S;ENSG00000167210:ENST00000582408:exon11:c.G1198T:p.A400S;	0.999810942714571	0.986
18	44104880	C	G	18	46524917	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.G4531C:p.A1511P;LOXHD1:NM_001145472:exon12:c.G1198C:p.A400P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.G3913C:p.A1305P;ENSG00000167210:ENST00000300591:exon12:c.G1198C:p.A400P;ENSG00000167210:ENST00000536736:exon30:c.G4531C:p.A1511P;ENSG00000167210:ENST00000441893:exon11:c.G1330C:p.A444P;ENSG00000167210:ENST00000398722:exon23:c.G3697C:p.A1233P;ENSG00000167210:ENST00000579038:exon10:c.G910C:p.A304P;ENSG00000167210:ENST00000582408:exon11:c.G1198C:p.A400P;	0.999639523150774	0.972
18	44104880	C	T	18	46524917	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon30:c.G4531A:p.A1511T;LOXHD1:NM_001145472:exon12:c.G1198A:p.A400T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon28:c.G3913A:p.A1305T;ENSG00000167210:ENST00000300591:exon12:c.G1198A:p.A400T;ENSG00000167210:ENST00000536736:exon30:c.G4531A:p.A1511T;ENSG00000167210:ENST00000441893:exon11:c.G1330A:p.A444T;ENSG00000167210:ENST00000398722:exon23:c.G3697A:p.A1233T;ENSG00000167210:ENST00000579038:exon10:c.G910A:p.A304T;ENSG00000167210:ENST00000582408:exon11:c.G1198A:p.A400T;	0.998460276142228	0.946
18	44104881	C	A	18	46524918	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1198-1G>T;NM_144612:exon31:c.4531-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1198-1G>T;ENST00000398722:exon24:c.3697-1G>T;ENST00000579038:exon11:c.910-1G>T;ENST00000441893:exon12:c.1330-1G>T;ENST00000536736:exon31:c.4531-1G>T;ENST00000582408:exon12:c.1198-1G>T;ENST00000441551:exon29:c.3913-1G>T)	.	.	0.999984967332678	0.946
18	44104881	C	G	18	46524918	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1198-1G>C;NM_144612:exon31:c.4531-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1198-1G>C;ENST00000398722:exon24:c.3697-1G>C;ENST00000579038:exon11:c.910-1G>C;ENST00000441893:exon12:c.1330-1G>C;ENST00000536736:exon31:c.4531-1G>C;ENST00000582408:exon12:c.1198-1G>C;ENST00000441551:exon29:c.3913-1G>C)	.	.	0.999984967332678	0.946
18	44104881	C	T	18	46524918	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1198-1G>A;NM_144612:exon31:c.4531-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1198-1G>A;ENST00000398722:exon24:c.3697-1G>A;ENST00000579038:exon11:c.910-1G>A;ENST00000441893:exon12:c.1330-1G>A;ENST00000536736:exon31:c.4531-1G>A;ENST00000582408:exon12:c.1198-1G>A;ENST00000441551:exon29:c.3913-1G>A)	.	.	0.999984967332678	0.946
18	44104882	T	A	18	46524919	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1198-2A>T;NM_144612:exon31:c.4531-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1198-2A>T;ENST00000398722:exon24:c.3697-2A>T;ENST00000579038:exon11:c.910-2A>T;ENST00000441893:exon12:c.1330-2A>T;ENST00000536736:exon31:c.4531-2A>T;ENST00000582408:exon12:c.1198-2A>T;ENST00000441551:exon29:c.3913-2A>T)	.	.	0.999988624979899	0.936
18	44104882	T	C	18	46524919	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1198-2A>G;NM_144612:exon31:c.4531-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1198-2A>G;ENST00000398722:exon24:c.3697-2A>G;ENST00000579038:exon11:c.910-2A>G;ENST00000441893:exon12:c.1330-2A>G;ENST00000536736:exon31:c.4531-2A>G;ENST00000582408:exon12:c.1198-2A>G;ENST00000441551:exon29:c.3913-2A>G)	.	.	0.999988624979899	0.936
18	44104882	T	G	18	46524919	y	y	splicing	LOXHD1(NM_001145472:exon13:c.1198-2A>C;NM_144612:exon31:c.4531-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon13:c.1198-2A>C;ENST00000398722:exon24:c.3697-2A>C;ENST00000579038:exon11:c.910-2A>C;ENST00000441893:exon12:c.1330-2A>C;ENST00000536736:exon31:c.4531-2A>C;ENST00000582408:exon12:c.1198-2A>C;ENST00000441551:exon29:c.3913-2A>C)	.	.	0.999988624979899	0.936
18	44104883	G	A	18	46524920	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00586444195341195	0.214
18	44104883	G	C	18	46524920	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999888763657448	0.91
18	44104883	G	T	18	46524920	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.990798733689664	0.806
18	44104884	G	A	18	46524921	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.29799101218899E-4	0.138
18	44104884	G	C	18	46524921	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.31296946209805E-5	0.054
18	44104884	G	T	18	46524921	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.59601317047818E-5	0.064
18	44104885	G	A	18	46524922	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.95373669548272E-4	0.028
18	44104885	G	C	18	46524922	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0202397223345818	0.102
18	44104885	G	T	18	46524922	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00624856022999868	0.09
18	44104886	G	A	18	46524923	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00127313826992237	0.02
18	44104886	G	C	18	46524923	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.447809747962455	0.428
18	44104886	G	T	18	46524923	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.257966474873587	0.432
18	44104887	A	C	18	46524924	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.479143351225914	0.604
18	44104887	A	G	18	46524924	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.66944350992542E-4	0.15
18	44104887	A	T	18	46524924	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.730974095139012	0.606
18	44104888	G	A	18	46524925	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.089675150048E-5	0.026
18	44104888	G	C	18	46524925	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0022396814461696	0.12
18	44104888	G	T	18	46524925	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0127441805431859	0.106
18	44104889	C	A	18	46524926	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.23523356004692E-5	0.038
18	44104889	C	G	18	46524926	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.68638121811848E-5	0.04
18	44104889	C	T	18	46524926	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.17762110911942E-4	0.026
18	44104890	C	A	18	46524927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0338215331227355	0.546
18	44104890	C	G	18	46524927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0173250342658942	0.51
18	44104890	C	T	18	46524927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999681978682293	0.944
18	44104891	C	A	18	46524928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.889813607563919	0.688
18	44104891	C	G	18	46524928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.787903008990313	0.662
18	44104891	C	T	18	46524928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999835031657772	0.942
18	44104892	A	C	18	46524929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.924655745140336	0.674
18	44104892	A	G	18	46524929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.94534847282934E-4	0.136
18	44104892	A	T	18	46524929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999970078489812	0.968
18	44109132	C	A	18	46529169	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.14869373489143E-4	0.046
18	44109132	C	G	18	46529169	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.13658427496211E-5	0.006
18	44109132	C	T	18	46529169	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.14869373489143E-4	0.046
18	44109133	C	A	18	46529170	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.31149127981019E-5	0.002
18	44109133	C	G	18	46529170	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.59901939456998E-5	0.0
18	44109133	C	T	18	46529170	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.33069379260715E-4	0.0
18	44109134	T	A	18	46529171	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.24916026655194E-5	0.144
18	44109134	T	C	18	46529171	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.94224695887843E-4	0.018
18	44109134	T	G	18	46529171	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.02941310651407E-4	0.092
18	44109135	C	A	18	46529172	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999885114740981	0.984
18	44109135	C	G	18	46529172	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999842831876876	0.974
18	44109135	C	T	18	46529172	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99983168751081	0.988
18	44109136	A	C	18	46529173	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.75508620372956E-4	0.234
18	44109136	A	G	18	46529173	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.77939269218096E-4	0.1
18	44109136	A	T	18	46529173	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.50214112759345E-4	0.078
18	44109137	T	A	18	46529174	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999758948300848	0.936
18	44109137	T	C	18	46529174	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.977004008830014	0.792
18	44109137	T	G	18	46529174	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999785471524553	0.948
18	44109138	A	C	18	46529175	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1197+2T>G;NM_144612:exon30:c.4530+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1197+2T>G;ENST00000398722:exon23:c.3696+2T>G;ENST00000579038:exon10:c.909+2T>G;ENST00000441893:exon11:c.1329+2T>G;ENST00000536736:exon30:c.4530+2T>G;ENST00000582408:exon11:c.1197+2T>G;ENST00000441551:exon28:c.3912+2T>G)	.	.	0.999992446697775	0.932
18	44109138	A	G	18	46529175	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1197+2T>C;NM_144612:exon30:c.4530+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1197+2T>C;ENST00000398722:exon23:c.3696+2T>C;ENST00000579038:exon10:c.909+2T>C;ENST00000441893:exon11:c.1329+2T>C;ENST00000536736:exon30:c.4530+2T>C;ENST00000582408:exon11:c.1197+2T>C;ENST00000441551:exon28:c.3912+2T>C)	.	.	0.999924967059161	0.856
18	44109138	A	T	18	46529175	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1197+2T>A;NM_144612:exon30:c.4530+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1197+2T>A;ENST00000398722:exon23:c.3696+2T>A;ENST00000579038:exon10:c.909+2T>A;ENST00000441893:exon11:c.1329+2T>A;ENST00000536736:exon30:c.4530+2T>A;ENST00000582408:exon11:c.1197+2T>A;ENST00000441551:exon28:c.3912+2T>A)	.	.	0.999992446697775	0.932
18	44109139	C	A	18	46529176	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1197+1G>T;NM_144612:exon30:c.4530+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1197+1G>T;ENST00000398722:exon23:c.3696+1G>T;ENST00000579038:exon10:c.909+1G>T;ENST00000441893:exon11:c.1329+1G>T;ENST00000536736:exon30:c.4530+1G>T;ENST00000582408:exon11:c.1197+1G>T;ENST00000441551:exon28:c.3912+1G>T)	.	.	0.999988247793601	0.934
18	44109139	C	G	18	46529176	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1197+1G>C;NM_144612:exon30:c.4530+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1197+1G>C;ENST00000398722:exon23:c.3696+1G>C;ENST00000579038:exon10:c.909+1G>C;ENST00000441893:exon11:c.1329+1G>C;ENST00000536736:exon30:c.4530+1G>C;ENST00000582408:exon11:c.1197+1G>C;ENST00000441551:exon28:c.3912+1G>C)	.	.	0.999988247793601	0.934
18	44109139	C	T	18	46529176	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1197+1G>A;NM_144612:exon30:c.4530+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1197+1G>A;ENST00000398722:exon23:c.3696+1G>A;ENST00000579038:exon10:c.909+1G>A;ENST00000441893:exon11:c.1329+1G>A;ENST00000536736:exon30:c.4530+1G>A;ENST00000582408:exon11:c.1197+1G>A;ENST00000441551:exon28:c.3912+1G>A)	.	.	0.999988247793601	0.934
18	44109140	C	A	18	46529177	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon29:c.G4530T:p.T1510T;LOXHD1:NM_001145472:exon11:c.G1197T:p.T399T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.G3912T:p.T1304T;ENSG00000167210:ENST00000300591:exon11:c.G1197T:p.T399T;ENSG00000167210:ENST00000536736:exon29:c.G4530T:p.T1510T;ENSG00000167210:ENST00000441893:exon10:c.G1329T:p.T443T;ENSG00000167210:ENST00000398722:exon22:c.G3696T:p.T1232T;ENSG00000167210:ENST00000579038:exon9:c.G909T:p.T303T;ENSG00000167210:ENST00000582408:exon10:c.G1197T:p.T399T;	0.999946712937707	0.998
18	44109140	C	G	18	46529177	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon29:c.G4530C:p.T1510T;LOXHD1:NM_001145472:exon11:c.G1197C:p.T399T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.G3912C:p.T1304T;ENSG00000167210:ENST00000300591:exon11:c.G1197C:p.T399T;ENSG00000167210:ENST00000536736:exon29:c.G4530C:p.T1510T;ENSG00000167210:ENST00000441893:exon10:c.G1329C:p.T443T;ENSG00000167210:ENST00000398722:exon22:c.G3696C:p.T1232T;ENSG00000167210:ENST00000579038:exon9:c.G909C:p.T303T;ENSG00000167210:ENST00000582408:exon10:c.G1197C:p.T399T;	0.999983356123515	0.988
18	44109140	C	T	18	46529177	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon29:c.G4530A:p.T1510T;LOXHD1:NM_001145472:exon11:c.G1197A:p.T399T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.G3912A:p.T1304T;ENSG00000167210:ENST00000300591:exon11:c.G1197A:p.T399T;ENSG00000167210:ENST00000536736:exon29:c.G4530A:p.T1510T;ENSG00000167210:ENST00000441893:exon10:c.G1329A:p.T443T;ENSG00000167210:ENST00000398722:exon22:c.G3696A:p.T1232T;ENSG00000167210:ENST00000579038:exon9:c.G909A:p.T303T;ENSG00000167210:ENST00000582408:exon10:c.G1197A:p.T399T;	0.999956469759473	0.994
18	44109141	G	A	18	46529178	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.C4529T:p.T1510M;LOXHD1:NM_001145472:exon11:c.C1196T:p.T399M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.C3911T:p.T1304M;ENSG00000167210:ENST00000300591:exon11:c.C1196T:p.T399M;ENSG00000167210:ENST00000536736:exon29:c.C4529T:p.T1510M;ENSG00000167210:ENST00000441893:exon10:c.C1328T:p.T443M;ENSG00000167210:ENST00000398722:exon22:c.C3695T:p.T1232M;ENSG00000167210:ENST00000579038:exon9:c.C908T:p.T303M;ENSG00000167210:ENST00000582408:exon10:c.C1196T:p.T399M;	0.0148360199451324	0.12
18	44109141	G	C	18	46529178	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.C4529G:p.T1510R;LOXHD1:NM_001145472:exon11:c.C1196G:p.T399R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.C3911G:p.T1304R;ENSG00000167210:ENST00000300591:exon11:c.C1196G:p.T399R;ENSG00000167210:ENST00000536736:exon29:c.C4529G:p.T1510R;ENSG00000167210:ENST00000441893:exon10:c.C1328G:p.T443R;ENSG00000167210:ENST00000398722:exon22:c.C3695G:p.T1232R;ENSG00000167210:ENST00000579038:exon9:c.C908G:p.T303R;ENSG00000167210:ENST00000582408:exon10:c.C1196G:p.T399R;	0.0203673183183473	0.116
18	44109141	G	T	18	46529178	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.C4529A:p.T1510K;LOXHD1:NM_001145472:exon11:c.C1196A:p.T399K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.C3911A:p.T1304K;ENSG00000167210:ENST00000300591:exon11:c.C1196A:p.T399K;ENSG00000167210:ENST00000536736:exon29:c.C4529A:p.T1510K;ENSG00000167210:ENST00000441893:exon10:c.C1328A:p.T443K;ENSG00000167210:ENST00000398722:exon22:c.C3695A:p.T1232K;ENSG00000167210:ENST00000579038:exon9:c.C908A:p.T303K;ENSG00000167210:ENST00000582408:exon10:c.C1196A:p.T399K;	0.00152668676358266	0.154
18	44109142	T	A	18	46529179	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.A4528T:p.T1510S;LOXHD1:NM_001145472:exon11:c.A1195T:p.T399S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.A3910T:p.T1304S;ENSG00000167210:ENST00000300591:exon11:c.A1195T:p.T399S;ENSG00000167210:ENST00000536736:exon29:c.A4528T:p.T1510S;ENSG00000167210:ENST00000441893:exon10:c.A1327T:p.T443S;ENSG00000167210:ENST00000398722:exon22:c.A3694T:p.T1232S;ENSG00000167210:ENST00000579038:exon9:c.A907T:p.T303S;ENSG00000167210:ENST00000582408:exon10:c.A1195T:p.T399S;	0.764578742192628	0.458
18	44109142	T	C	18	46529179	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.A4528G:p.T1510A;LOXHD1:NM_001145472:exon11:c.A1195G:p.T399A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.A3910G:p.T1304A;ENSG00000167210:ENST00000300591:exon11:c.A1195G:p.T399A;ENSG00000167210:ENST00000536736:exon29:c.A4528G:p.T1510A;ENSG00000167210:ENST00000441893:exon10:c.A1327G:p.T443A;ENSG00000167210:ENST00000398722:exon22:c.A3694G:p.T1232A;ENSG00000167210:ENST00000579038:exon9:c.A907G:p.T303A;ENSG00000167210:ENST00000582408:exon10:c.A1195G:p.T399A;	0.0298099733689708	0.208
18	44109142	T	G	18	46529179	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.A4528C:p.T1510P;LOXHD1:NM_001145472:exon11:c.A1195C:p.T399P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.A3910C:p.T1304P;ENSG00000167210:ENST00000300591:exon11:c.A1195C:p.T399P;ENSG00000167210:ENST00000536736:exon29:c.A4528C:p.T1510P;ENSG00000167210:ENST00000441893:exon10:c.A1327C:p.T443P;ENSG00000167210:ENST00000398722:exon22:c.A3694C:p.T1232P;ENSG00000167210:ENST00000579038:exon9:c.A907C:p.T303P;ENSG00000167210:ENST00000582408:exon10:c.A1195C:p.T399P;	0.00824812973118354	0.024
18	44109293	A	C	18	46529330	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.T4377G:p.I1459M;LOXHD1:NM_001145472:exon11:c.T1044G:p.I348M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.T3759G:p.I1253M;ENSG00000167210:ENST00000300591:exon11:c.T1044G:p.I348M;ENSG00000167210:ENST00000536736:exon29:c.T4377G:p.I1459M;ENSG00000167210:ENST00000441893:exon10:c.T1176G:p.I392M;ENSG00000167210:ENST00000398722:exon22:c.T3543G:p.I1181M;ENSG00000167210:ENST00000579038:exon9:c.T756G:p.I252M;ENSG00000167210:ENST00000582408:exon10:c.T1044G:p.I348M;	0.00124051601740949	0.164
18	44109293	A	G	18	46529330	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon29:c.T4377C:p.I1459I;LOXHD1:NM_001145472:exon11:c.T1044C:p.I348I;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.T3759C:p.I1253I;ENSG00000167210:ENST00000300591:exon11:c.T1044C:p.I348I;ENSG00000167210:ENST00000536736:exon29:c.T4377C:p.I1459I;ENSG00000167210:ENST00000441893:exon10:c.T1176C:p.I392I;ENSG00000167210:ENST00000398722:exon22:c.T3543C:p.I1181I;ENSG00000167210:ENST00000579038:exon9:c.T756C:p.I252I;ENSG00000167210:ENST00000582408:exon10:c.T1044C:p.I348I;	5.57561601422238E-4	0.128
18	44109293	A	T	18	46529330	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon29:c.T4377A:p.I1459I;LOXHD1:NM_001145472:exon11:c.T1044A:p.I348I;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.T3759A:p.I1253I;ENSG00000167210:ENST00000300591:exon11:c.T1044A:p.I348I;ENSG00000167210:ENST00000536736:exon29:c.T4377A:p.I1459I;ENSG00000167210:ENST00000441893:exon10:c.T1176A:p.I392I;ENSG00000167210:ENST00000398722:exon22:c.T3543A:p.I1181I;ENSG00000167210:ENST00000579038:exon9:c.T756A:p.I252I;ENSG00000167210:ENST00000582408:exon10:c.T1044A:p.I348I;	0.0139023005672171	0.256
18	44109294	A	C	18	46529331	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.T4376G:p.I1459S;LOXHD1:NM_001145472:exon11:c.T1043G:p.I348S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.T3758G:p.I1253S;ENSG00000167210:ENST00000300591:exon11:c.T1043G:p.I348S;ENSG00000167210:ENST00000536736:exon29:c.T4376G:p.I1459S;ENSG00000167210:ENST00000441893:exon10:c.T1175G:p.I392S;ENSG00000167210:ENST00000398722:exon22:c.T3542G:p.I1181S;ENSG00000167210:ENST00000579038:exon9:c.T755G:p.I252S;ENSG00000167210:ENST00000582408:exon10:c.T1043G:p.I348S;	0.00303506851975841	0.096
18	44109294	A	G	18	46529331	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.T4376C:p.I1459T;LOXHD1:NM_001145472:exon11:c.T1043C:p.I348T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.T3758C:p.I1253T;ENSG00000167210:ENST00000300591:exon11:c.T1043C:p.I348T;ENSG00000167210:ENST00000536736:exon29:c.T4376C:p.I1459T;ENSG00000167210:ENST00000441893:exon10:c.T1175C:p.I392T;ENSG00000167210:ENST00000398722:exon22:c.T3542C:p.I1181T;ENSG00000167210:ENST00000579038:exon9:c.T755C:p.I252T;ENSG00000167210:ENST00000582408:exon10:c.T1043C:p.I348T;	0.0214629665421553	0.176
18	44109294	A	T	18	46529331	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon29:c.T4376A:p.I1459N;LOXHD1:NM_001145472:exon11:c.T1043A:p.I348N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon27:c.T3758A:p.I1253N;ENSG00000167210:ENST00000300591:exon11:c.T1043A:p.I348N;ENSG00000167210:ENST00000536736:exon29:c.T4376A:p.I1459N;ENSG00000167210:ENST00000441893:exon10:c.T1175A:p.I392N;ENSG00000167210:ENST00000398722:exon22:c.T3542A:p.I1181N;ENSG00000167210:ENST00000579038:exon9:c.T755A:p.I252N;ENSG00000167210:ENST00000582408:exon10:c.T1043A:p.I348N;	0.00122037189437974	0.026
18	44109295	C	A	18	46529332	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1043-1G>T;NM_144612:exon30:c.4376-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1043-1G>T;ENST00000398722:exon23:c.3542-1G>T;ENST00000579038:exon10:c.755-1G>T;ENST00000441893:exon11:c.1175-1G>T;ENST00000536736:exon30:c.4376-1G>T;ENST00000582408:exon11:c.1043-1G>T;ENST00000441551:exon28:c.3758-1G>T;ENST00000536111:exon11:c.1136-1G>T)	.	.	0.999984967332678	0.94
18	44109295	C	G	18	46529332	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1043-1G>C;NM_144612:exon30:c.4376-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1043-1G>C;ENST00000398722:exon23:c.3542-1G>C;ENST00000579038:exon10:c.755-1G>C;ENST00000441893:exon11:c.1175-1G>C;ENST00000536736:exon30:c.4376-1G>C;ENST00000582408:exon11:c.1043-1G>C;ENST00000441551:exon28:c.3758-1G>C;ENST00000536111:exon11:c.1136-1G>C)	.	.	0.999984967332678	0.94
18	44109295	C	T	18	46529332	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1043-1G>A;NM_144612:exon30:c.4376-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1043-1G>A;ENST00000398722:exon23:c.3542-1G>A;ENST00000579038:exon10:c.755-1G>A;ENST00000441893:exon11:c.1175-1G>A;ENST00000536736:exon30:c.4376-1G>A;ENST00000582408:exon11:c.1043-1G>A;ENST00000441551:exon28:c.3758-1G>A;ENST00000536111:exon11:c.1136-1G>A)	.	.	0.999984967332678	0.94
18	44109296	T	A	18	46529333	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1043-2A>T;NM_144612:exon30:c.4376-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1043-2A>T;ENST00000398722:exon23:c.3542-2A>T;ENST00000579038:exon10:c.755-2A>T;ENST00000441893:exon11:c.1175-2A>T;ENST00000536736:exon30:c.4376-2A>T;ENST00000582408:exon11:c.1043-2A>T;ENST00000441551:exon28:c.3758-2A>T;ENST00000536111:exon11:c.1136-2A>T)	.	.	0.999988624979899	0.936
18	44109296	T	C	18	46529333	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1043-2A>G;NM_144612:exon30:c.4376-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1043-2A>G;ENST00000398722:exon23:c.3542-2A>G;ENST00000579038:exon10:c.755-2A>G;ENST00000441893:exon11:c.1175-2A>G;ENST00000536736:exon30:c.4376-2A>G;ENST00000582408:exon11:c.1043-2A>G;ENST00000441551:exon28:c.3758-2A>G;ENST00000536111:exon11:c.1136-2A>G)	.	.	0.999988624979899	0.936
18	44109296	T	G	18	46529333	y	y	splicing	LOXHD1(NM_001145472:exon12:c.1043-2A>C;NM_144612:exon30:c.4376-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon12:c.1043-2A>C;ENST00000398722:exon23:c.3542-2A>C;ENST00000579038:exon10:c.755-2A>C;ENST00000441893:exon11:c.1175-2A>C;ENST00000536736:exon30:c.4376-2A>C;ENST00000582408:exon11:c.1043-2A>C;ENST00000441551:exon28:c.3758-2A>C;ENST00000536111:exon11:c.1136-2A>C)	.	.	0.999988624979899	0.936
18	44109297	G	A	18	46529334	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00574543493734669	0.114
18	44109297	G	C	18	46529334	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999969888770197	0.84
18	44109297	G	T	18	46529334	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999577874362517	0.906
18	44109298	G	A	18	46529335	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.0515307949349E-4	0.04
18	44109298	G	C	18	46529335	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00232632845378415	0.132
18	44109298	G	T	18	46529335	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.42747223476835E-4	0.066
18	44109299	G	A	18	46529336	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.26075798717558E-5	0.0
18	44109299	G	C	18	46529336	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00163243525456722	0.232
18	44109299	G	T	18	46529336	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00146315592930395	0.162
18	44109300	C	A	18	46529337	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.61649818451889E-4	0.024
18	44109300	C	G	18	46529337	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.3892501329027E-4	0.028
18	44109300	C	T	18	46529337	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.47541717907367E-4	0.002
18	44109301	A	C	18	46529338	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.256470157212111	0.452
18	44109301	A	G	18	46529338	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.08940841475231E-4	0.056
18	44109301	A	T	18	46529338	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999925658778966	0.926
18	44109302	G	A	18	46529339	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.54693411208593E-5	0.0
18	44109302	G	C	18	46529339	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00245220982293884	0.2
18	44109302	G	T	18	46529339	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0694198548488525	0.29
18	44109303	G	A	18	46529340	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.77247259307524E-5	0.012
18	44109303	G	C	18	46529340	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99989272010718	0.996
18	44109303	G	T	18	46529340	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00775688625262386	0.14
18	44109304	T	A	18	46529341	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.74983183821192E-5	0.0
18	44109304	T	C	18	46529341	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.12652313270844E-5	0.0
18	44109304	T	G	18	46529341	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.74983183821192E-5	0.0
18	44109305	G	A	18	46529342	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.66470213356186E-5	0.002
18	44109305	G	C	18	46529342	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.01603904793065E-4	0.05
18	44109305	G	T	18	46529342	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.87543451225233E-4	0.038
18	44109306	G	A	18	46529343	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.2141596249405E-4	0.004
18	44109306	G	C	18	46529343	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999869268067419	0.998
18	44109306	G	T	18	46529343	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.126629296548948	0.17
18	44113117	A	C	18	46533154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.96319468272292E-5	0.002
18	44113117	A	G	18	46533154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.02595150801211E-5	0.0
18	44113117	A	T	18	46533154	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.56766247173912E-5	0.0
18	44113118	C	A	18	46533155	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.06901716179216E-4	0.0
18	44113118	C	G	18	46533155	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.4916954340738E-4	0.004
18	44113118	C	T	18	46533155	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.47317444092193E-4	0.0
18	44113119	A	C	18	46533156	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99230352104275	0.932
18	44113119	A	G	18	46533156	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.989093333422385	0.892
18	44113119	A	T	18	46533156	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.991709904914785	0.722
18	44113120	C	A	18	46533157	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999972255323498	0.966
18	44113120	C	G	18	46533157	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999972255323498	0.984
18	44113120	C	T	18	46533157	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999972255323498	0.992
18	44113121	T	A	18	46533158	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999050079780458	0.946
18	44113121	T	C	18	46533158	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99737292136288	0.894
18	44113121	T	G	18	46533158	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.988922626663806	0.796
18	44113122	T	A	18	46533159	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999879871097892	0.946
18	44113122	T	C	18	46533159	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.110120703091858	0.316
18	44113122	T	G	18	46533159	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999909960893278	0.928
18	44113123	A	C	18	46533160	y	y	splicing	LOXHD1(NM_001145472:exon11:c.1042+2T>G;NM_144612:exon29:c.4375+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.1042+2T>G;ENST00000398722:exon22:c.3541+2T>G;ENST00000579038:exon9:c.754+2T>G;ENST00000441893:exon10:c.1174+2T>G;ENST00000536736:exon29:c.4375+2T>G;ENST00000582408:exon10:c.1042+2T>G;ENST00000441551:exon27:c.3757+2T>G;ENST00000536111:exon10:c.1135+2T>G)	.	.	0.999992446697775	0.93
18	44113123	A	G	18	46533160	y	y	splicing	LOXHD1(NM_001145472:exon11:c.1042+2T>C;NM_144612:exon29:c.4375+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.1042+2T>C;ENST00000398722:exon22:c.3541+2T>C;ENST00000579038:exon9:c.754+2T>C;ENST00000441893:exon10:c.1174+2T>C;ENST00000536736:exon29:c.4375+2T>C;ENST00000582408:exon10:c.1042+2T>C;ENST00000441551:exon27:c.3757+2T>C;ENST00000536111:exon10:c.1135+2T>C)	.	.	0.99303099408625	0.624
18	44113123	A	T	18	46533160	y	y	splicing	LOXHD1(NM_001145472:exon11:c.1042+2T>A;NM_144612:exon29:c.4375+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.1042+2T>A;ENST00000398722:exon22:c.3541+2T>A;ENST00000579038:exon9:c.754+2T>A;ENST00000441893:exon10:c.1174+2T>A;ENST00000536736:exon29:c.4375+2T>A;ENST00000582408:exon10:c.1042+2T>A;ENST00000441551:exon27:c.3757+2T>A;ENST00000536111:exon10:c.1135+2T>A)	.	.	0.999992446697775	0.93
18	44113124	C	A	18	46533161	y	y	splicing	LOXHD1(NM_001145472:exon11:c.1042+1G>T;NM_144612:exon29:c.4375+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.1042+1G>T;ENST00000398722:exon22:c.3541+1G>T;ENST00000579038:exon9:c.754+1G>T;ENST00000441893:exon10:c.1174+1G>T;ENST00000536736:exon29:c.4375+1G>T;ENST00000582408:exon10:c.1042+1G>T;ENST00000441551:exon27:c.3757+1G>T;ENST00000536111:exon10:c.1135+1G>T)	.	.	0.999988247793601	0.924
18	44113124	C	G	18	46533161	y	y	splicing	LOXHD1(NM_001145472:exon11:c.1042+1G>C;NM_144612:exon29:c.4375+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.1042+1G>C;ENST00000398722:exon22:c.3541+1G>C;ENST00000579038:exon9:c.754+1G>C;ENST00000441893:exon10:c.1174+1G>C;ENST00000536736:exon29:c.4375+1G>C;ENST00000582408:exon10:c.1042+1G>C;ENST00000441551:exon27:c.3757+1G>C;ENST00000536111:exon10:c.1135+1G>C)	.	.	0.999988247793601	0.924
18	44113124	C	T	18	46533161	y	y	splicing	LOXHD1(NM_001145472:exon11:c.1042+1G>A;NM_144612:exon29:c.4375+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.1042+1G>A;ENST00000398722:exon22:c.3541+1G>A;ENST00000579038:exon9:c.754+1G>A;ENST00000441893:exon10:c.1174+1G>A;ENST00000536736:exon29:c.4375+1G>A;ENST00000582408:exon10:c.1042+1G>A;ENST00000441551:exon27:c.3757+1G>A;ENST00000536111:exon10:c.1135+1G>A)	.	.	0.999988247793601	0.924
18	44113125	T	A	18	46533162	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.A4375T:p.I1459F;LOXHD1:NM_001145472:exon10:c.A1042T:p.I348F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.A3757T:p.I1253F;ENSG00000167210:ENST00000300591:exon10:c.A1042T:p.I348F;ENSG00000167210:ENST00000536736:exon28:c.A4375T:p.I1459F;ENSG00000167210:ENST00000441893:exon9:c.A1174T:p.I392F;ENSG00000167210:ENST00000398722:exon21:c.A3541T:p.I1181F;ENSG00000167210:ENST00000579038:exon8:c.A754T:p.I252F;ENSG00000167210:ENST00000582408:exon9:c.A1042T:p.I348F;	0.0856673950337796	0.38
18	44113125	T	C	18	46533162	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.A4375G:p.I1459V;LOXHD1:NM_001145472:exon10:c.A1042G:p.I348V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.A3757G:p.I1253V;ENSG00000167210:ENST00000300591:exon10:c.A1042G:p.I348V;ENSG00000167210:ENST00000536736:exon28:c.A4375G:p.I1459V;ENSG00000167210:ENST00000441893:exon9:c.A1174G:p.I392V;ENSG00000167210:ENST00000398722:exon21:c.A3541G:p.I1181V;ENSG00000167210:ENST00000579038:exon8:c.A754G:p.I252V;ENSG00000167210:ENST00000582408:exon9:c.A1042G:p.I348V;	0.0142023277631207	0.07
18	44113125	T	G	18	46533162	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.A4375C:p.I1459L;LOXHD1:NM_001145472:exon10:c.A1042C:p.I348L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.A3757C:p.I1253L;ENSG00000167210:ENST00000300591:exon10:c.A1042C:p.I348L;ENSG00000167210:ENST00000536736:exon28:c.A4375C:p.I1459L;ENSG00000167210:ENST00000441893:exon9:c.A1174C:p.I392L;ENSG00000167210:ENST00000398722:exon21:c.A3541C:p.I1181L;ENSG00000167210:ENST00000579038:exon8:c.A754C:p.I252L;ENSG00000167210:ENST00000582408:exon9:c.A1042C:p.I348L;	0.507534419278063	0.544
18	44113126	G	A	18	46533163	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon28:c.C4374T:p.D1458D;LOXHD1:NM_001145472:exon10:c.C1041T:p.D347D;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.C3756T:p.D1252D;ENSG00000167210:ENST00000300591:exon10:c.C1041T:p.D347D;ENSG00000167210:ENST00000536736:exon28:c.C4374T:p.D1458D;ENSG00000167210:ENST00000441893:exon9:c.C1173T:p.D391D;ENSG00000167210:ENST00000398722:exon21:c.C3540T:p.D1180D;ENSG00000167210:ENST00000579038:exon8:c.C753T:p.D251D;ENSG00000167210:ENST00000582408:exon9:c.C1041T:p.D347D;	0.00499456268963083	0.094
18	44113126	G	C	18	46533163	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.C4374G:p.D1458E;LOXHD1:NM_001145472:exon10:c.C1041G:p.D347E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.C3756G:p.D1252E;ENSG00000167210:ENST00000300591:exon10:c.C1041G:p.D347E;ENSG00000167210:ENST00000536736:exon28:c.C4374G:p.D1458E;ENSG00000167210:ENST00000441893:exon9:c.C1173G:p.D391E;ENSG00000167210:ENST00000398722:exon21:c.C3540G:p.D1180E;ENSG00000167210:ENST00000579038:exon8:c.C753G:p.D251E;ENSG00000167210:ENST00000582408:exon9:c.C1041G:p.D347E;	0.00629202967268998	0.064
18	44113126	G	T	18	46533163	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.C4374A:p.D1458E;LOXHD1:NM_001145472:exon10:c.C1041A:p.D347E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.C3756A:p.D1252E;ENSG00000167210:ENST00000300591:exon10:c.C1041A:p.D347E;ENSG00000167210:ENST00000536736:exon28:c.C4374A:p.D1458E;ENSG00000167210:ENST00000441893:exon9:c.C1173A:p.D391E;ENSG00000167210:ENST00000398722:exon21:c.C3540A:p.D1180E;ENSG00000167210:ENST00000579038:exon8:c.C753A:p.D251E;ENSG00000167210:ENST00000582408:exon9:c.C1041A:p.D347E;	6.74542693216938E-4	0.116
18	44113127	T	A	18	46533164	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.A4373T:p.D1458V;LOXHD1:NM_001145472:exon10:c.A1040T:p.D347V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.A3755T:p.D1252V;ENSG00000167210:ENST00000300591:exon10:c.A1040T:p.D347V;ENSG00000167210:ENST00000536736:exon28:c.A4373T:p.D1458V;ENSG00000167210:ENST00000441893:exon9:c.A1172T:p.D391V;ENSG00000167210:ENST00000398722:exon21:c.A3539T:p.D1180V;ENSG00000167210:ENST00000579038:exon8:c.A752T:p.D251V;ENSG00000167210:ENST00000582408:exon9:c.A1040T:p.D347V;	0.613696135001311	0.316
18	44113127	T	C	18	46533164	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.A4373G:p.D1458G;LOXHD1:NM_001145472:exon10:c.A1040G:p.D347G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.A3755G:p.D1252G;ENSG00000167210:ENST00000300591:exon10:c.A1040G:p.D347G;ENSG00000167210:ENST00000536736:exon28:c.A4373G:p.D1458G;ENSG00000167210:ENST00000441893:exon9:c.A1172G:p.D391G;ENSG00000167210:ENST00000398722:exon21:c.A3539G:p.D1180G;ENSG00000167210:ENST00000579038:exon8:c.A752G:p.D251G;ENSG00000167210:ENST00000582408:exon9:c.A1040G:p.D347G;	0.084876656364928	0.256
18	44113127	T	G	18	46533164	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.A4373C:p.D1458A;LOXHD1:NM_001145472:exon10:c.A1040C:p.D347A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.A3755C:p.D1252A;ENSG00000167210:ENST00000300591:exon10:c.A1040C:p.D347A;ENSG00000167210:ENST00000536736:exon28:c.A4373C:p.D1458A;ENSG00000167210:ENST00000441893:exon9:c.A1172C:p.D391A;ENSG00000167210:ENST00000398722:exon21:c.A3539C:p.D1180A;ENSG00000167210:ENST00000579038:exon8:c.A752C:p.D251A;ENSG00000167210:ENST00000582408:exon9:c.A1040C:p.D347A;	0.0946667411474343	0.262
18	44113286	C	A	18	46533323	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.G4214T:p.G1405V;LOXHD1:NM_001145472:exon10:c.G881T:p.G294V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.G3596T:p.G1199V;ENSG00000167210:ENST00000300591:exon10:c.G881T:p.G294V;ENSG00000167210:ENST00000536736:exon28:c.G4214T:p.G1405V;ENSG00000167210:ENST00000441893:exon9:c.G1013T:p.G338V;ENSG00000167210:ENST00000398722:exon21:c.G3380T:p.G1127V;ENSG00000167210:ENST00000579038:exon8:c.G593T:p.G198V;ENSG00000167210:ENST00000582408:exon9:c.G881T:p.G294V;	0.418406891932275	0.524
18	44113286	C	G	18	46533323	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.G4214C:p.G1405A;LOXHD1:NM_001145472:exon10:c.G881C:p.G294A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.G3596C:p.G1199A;ENSG00000167210:ENST00000300591:exon10:c.G881C:p.G294A;ENSG00000167210:ENST00000536736:exon28:c.G4214C:p.G1405A;ENSG00000167210:ENST00000441893:exon9:c.G1013C:p.G338A;ENSG00000167210:ENST00000398722:exon21:c.G3380C:p.G1127A;ENSG00000167210:ENST00000579038:exon8:c.G593C:p.G198A;ENSG00000167210:ENST00000582408:exon9:c.G881C:p.G294A;	0.711253948780399	0.61
18	44113286	C	T	18	46533323	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.G4214A:p.G1405D;LOXHD1:NM_001145472:exon10:c.G881A:p.G294D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.G3596A:p.G1199D;ENSG00000167210:ENST00000300591:exon10:c.G881A:p.G294D;ENSG00000167210:ENST00000536736:exon28:c.G4214A:p.G1405D;ENSG00000167210:ENST00000441893:exon9:c.G1013A:p.G338D;ENSG00000167210:ENST00000398722:exon21:c.G3380A:p.G1127D;ENSG00000167210:ENST00000579038:exon8:c.G593A:p.G198D;ENSG00000167210:ENST00000582408:exon9:c.G881A:p.G294D;	0.86603329258837	0.662
18	44113287	C	A	18	46533324	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.G4213T:p.G1405C;LOXHD1:NM_001145472:exon10:c.G880T:p.G294C;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.G3595T:p.G1199C;ENSG00000167210:ENST00000300591:exon10:c.G880T:p.G294C;ENSG00000167210:ENST00000536736:exon28:c.G4213T:p.G1405C;ENSG00000167210:ENST00000441893:exon9:c.G1012T:p.G338C;ENSG00000167210:ENST00000398722:exon21:c.G3379T:p.G1127C;ENSG00000167210:ENST00000579038:exon8:c.G592T:p.G198C;ENSG00000167210:ENST00000582408:exon9:c.G880T:p.G294C;	0.997818194305662	0.904
18	44113287	C	G	18	46533324	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.G4213C:p.G1405R;LOXHD1:NM_001145472:exon10:c.G880C:p.G294R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.G3595C:p.G1199R;ENSG00000167210:ENST00000300591:exon10:c.G880C:p.G294R;ENSG00000167210:ENST00000536736:exon28:c.G4213C:p.G1405R;ENSG00000167210:ENST00000441893:exon9:c.G1012C:p.G338R;ENSG00000167210:ENST00000398722:exon21:c.G3379C:p.G1127R;ENSG00000167210:ENST00000579038:exon8:c.G592C:p.G198R;ENSG00000167210:ENST00000582408:exon9:c.G880C:p.G294R;	0.998588690399314	0.934
18	44113287	C	T	18	46533324	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon28:c.G4213A:p.G1405S;LOXHD1:NM_001145472:exon10:c.G880A:p.G294S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon26:c.G3595A:p.G1199S;ENSG00000167210:ENST00000300591:exon10:c.G880A:p.G294S;ENSG00000167210:ENST00000536736:exon28:c.G4213A:p.G1405S;ENSG00000167210:ENST00000441893:exon9:c.G1012A:p.G338S;ENSG00000167210:ENST00000398722:exon21:c.G3379A:p.G1127S;ENSG00000167210:ENST00000579038:exon8:c.G592A:p.G198S;ENSG00000167210:ENST00000582408:exon9:c.G880A:p.G294S;	0.998075482851449	0.89
18	44113288	C	A	18	46533325	y	y	splicing	LOXHD1(NM_001145472:exon11:c.880-1G>T;NM_144612:exon29:c.4213-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.880-1G>T;ENST00000398722:exon22:c.3379-1G>T;ENST00000579038:exon9:c.592-1G>T;ENST00000441893:exon10:c.1012-1G>T;ENST00000536736:exon29:c.4213-1G>T;ENST00000582408:exon10:c.880-1G>T;ENST00000441551:exon27:c.3595-1G>T;ENST00000536111:exon10:c.973-1G>T)	.	.	0.999988247793601	0.924
18	44113288	C	G	18	46533325	y	y	splicing	LOXHD1(NM_001145472:exon11:c.880-1G>C;NM_144612:exon29:c.4213-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.880-1G>C;ENST00000398722:exon22:c.3379-1G>C;ENST00000579038:exon9:c.592-1G>C;ENST00000441893:exon10:c.1012-1G>C;ENST00000536736:exon29:c.4213-1G>C;ENST00000582408:exon10:c.880-1G>C;ENST00000441551:exon27:c.3595-1G>C;ENST00000536111:exon10:c.973-1G>C)	.	.	0.999988247793601	0.924
18	44113288	C	T	18	46533325	y	y	splicing	LOXHD1(NM_001145472:exon11:c.880-1G>A;NM_144612:exon29:c.4213-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.880-1G>A;ENST00000398722:exon22:c.3379-1G>A;ENST00000579038:exon9:c.592-1G>A;ENST00000441893:exon10:c.1012-1G>A;ENST00000536736:exon29:c.4213-1G>A;ENST00000582408:exon10:c.880-1G>A;ENST00000441551:exon27:c.3595-1G>A;ENST00000536111:exon10:c.973-1G>A)	.	.	0.999988247793601	0.924
18	44113289	T	A	18	46533326	y	y	splicing	LOXHD1(NM_001145472:exon11:c.880-2A>T;NM_144612:exon29:c.4213-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.880-2A>T;ENST00000398722:exon22:c.3379-2A>T;ENST00000579038:exon9:c.592-2A>T;ENST00000441893:exon10:c.1012-2A>T;ENST00000536736:exon29:c.4213-2A>T;ENST00000582408:exon10:c.880-2A>T;ENST00000441551:exon27:c.3595-2A>T;ENST00000536111:exon10:c.973-2A>T)	.	.	0.999992446697775	0.93
18	44113289	T	C	18	46533326	y	y	splicing	LOXHD1(NM_001145472:exon11:c.880-2A>G;NM_144612:exon29:c.4213-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.880-2A>G;ENST00000398722:exon22:c.3379-2A>G;ENST00000579038:exon9:c.592-2A>G;ENST00000441893:exon10:c.1012-2A>G;ENST00000536736:exon29:c.4213-2A>G;ENST00000582408:exon10:c.880-2A>G;ENST00000441551:exon27:c.3595-2A>G;ENST00000536111:exon10:c.973-2A>G)	.	.	0.999992446697775	0.93
18	44113289	T	G	18	46533326	y	y	splicing	LOXHD1(NM_001145472:exon11:c.880-2A>C;NM_144612:exon29:c.4213-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon11:c.880-2A>C;ENST00000398722:exon22:c.3379-2A>C;ENST00000579038:exon9:c.592-2A>C;ENST00000441893:exon10:c.1012-2A>C;ENST00000536736:exon29:c.4213-2A>C;ENST00000582408:exon10:c.880-2A>C;ENST00000441551:exon27:c.3595-2A>C;ENST00000536111:exon10:c.973-2A>C)	.	.	0.999992446697775	0.93
18	44113290	G	A	18	46533327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.02185881772568	0.312
18	44113290	G	C	18	46533327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999352444711504	0.974
18	44113290	G	T	18	46533327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.80409325975908	0.684
18	44113291	G	A	18	46533328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.11058909937147E-5	0.012
18	44113291	G	C	18	46533328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.23093887594983E-5	0.002
18	44113291	G	T	18	46533328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.76182842003931E-5	0.0
18	44113292	G	A	18	46533329	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.58344773847664E-5	0.0
18	44113292	G	C	18	46533329	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0015005470154209	0.064
18	44113292	G	T	18	46533329	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00114442044608632	0.056
18	44113293	G	A	18	46533330	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.76590936046063E-4	0.072
18	44113293	G	C	18	46533330	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999946514282343	0.958
18	44113293	G	T	18	46533330	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.466248900456397	0.548
18	44113294	T	A	18	46533331	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00234559712830698	0.032
18	44113294	T	C	18	46533331	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0018946794929045	0.028
18	44113294	T	G	18	46533331	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00347658405948581	0.04
18	44113295	G	A	18	46533332	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.4703037139067E-5	0.0
18	44113295	G	C	18	46533332	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00263567580872144	0.054
18	44113295	G	T	18	46533332	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00833914956189466	0.052
18	44113296	A	C	18	46533333	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.736686565071698	0.692
18	44113296	A	G	18	46533333	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00128844723967693	0.016
18	44113296	A	T	18	46533333	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.971895803721409	0.706
18	44113297	G	A	18	46533334	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.86205400803787E-5	0.01
18	44113297	G	C	18	46533334	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00219265276014108	0.06
18	44113297	G	T	18	46533334	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00571784568214463	0.216
18	44113298	G	A	18	46533335	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.03679301664675E-5	0.006
18	44113298	G	C	18	46533335	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00105001910794821	0.032
18	44113298	G	T	18	46533335	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00501777992444852	0.066
18	44113299	C	A	18	46533336	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.65965658795311E-5	0.0
18	44113299	C	G	18	46533336	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.23446996518909E-5	0.0
18	44113299	C	T	18	46533336	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.01071699882635E-5	0.002
18	44113661	T	A	18	46533698	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113661	T	C	18	46533698	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113661	T	G	18	46533698	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113662	G	A	18	46533699	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.19654958573966E-5	0.02
18	44113662	G	C	18	46533699	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.19654958573966E-5	0.02
18	44113662	G	T	18	46533699	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.19654958573966E-5	0.02
18	44113663	G	A	18	46533700	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113663	G	C	18	46533700	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113663	G	T	18	46533700	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113664	A	C	18	46533701	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113664	A	G	18	46533701	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113664	A	T	18	46533701	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113665	T	A	18	46533702	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113665	T	C	18	46533702	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113665	T	G	18	46533702	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113666	T	A	18	46533703	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113666	T	C	18	46533703	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113666	T	G	18	46533703	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113667	A	C	18	46533704	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.972+2T>G)	.	.	6.87125311119806E-5	0.01
18	44113667	A	G	18	46533704	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.972+2T>C)	.	.	6.87125311119806E-5	0.01
18	44113667	A	T	18	46533704	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.972+2T>A)	.	.	6.87125311119806E-5	0.014
18	44113668	C	A	18	46533705	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.972+1G>T)	.	.	2.45277156108894E-5	0.0
18	44113668	C	G	18	46533705	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.972+1G>C)	.	.	2.45277156108894E-5	0.0
18	44113668	C	T	18	46533705	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.972+1G>A)	.	.	2.45277156108894E-5	0.0
18	44113669	C	A	18	46533706	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	6.19654958573966E-5	0.02
18	44113669	C	G	18	46533706	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	6.19654958573966E-5	0.02
18	44113669	C	T	18	46533706	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	6.19654958573966E-5	0.02
18	44113670	T	A	18	46533707	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	2.68284073685752E-5	0.004
18	44113670	T	C	18	46533707	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113670	T	G	18	46533707	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	1.73686617846189E-5	0.004
18	44113671	G	A	18	46533708	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	6.19654958573966E-5	0.022
18	44113671	G	C	18	46533708	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	6.19654958573966E-5	0.02
18	44113671	G	T	18	46533708	n	y	intronic	LOXHD1	.	.	UTR3	ENSG00000167210	.	.	6.19654958573966E-5	0.02
18	44113721	T	A	18	46533758	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000536111:exon8:c.A920T:p.X307L;	1.13286197146302E-4	0.016
18	44113721	T	C	18	46533758	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000536111:exon8:c.A920G:p.X307W;	1.37213739574818E-4	0.046
18	44113721	T	G	18	46533758	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000536111:exon8:c.A920C:p.X307S;	1.37213739574818E-4	0.046
18	44113722	A	C	18	46533759	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000536111:exon8:c.T919G:p.X307E;	1.37213739574818E-4	0.046
18	44113722	A	G	18	46533759	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000536111:exon8:c.T919C:p.X307Q;	1.37213739574818E-4	0.046
18	44113722	A	T	18	46533759	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	stoploss SNV	ENSG00000167210:ENST00000536111:exon8:c.T919A:p.X307K;	1.37213739574818E-4	0.02
18	44113723	C	A	18	46533760	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.919-1G>T)	.	.	1.48367148474546E-5	0.002
18	44113723	C	G	18	46533760	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.919-1G>C)	.	.	1.37501361942679E-5	0.002
18	44113723	C	T	18	46533760	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.919-1G>A)	.	.	1.48367148474546E-5	0.004
18	44113724	T	A	18	46533761	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.919-2A>T)	.	.	5.08928334384131E-5	0.008
18	44113724	T	C	18	46533761	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.919-2A>G)	.	.	1.58927937202005E-5	0.002
18	44113724	T	G	18	46533761	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon9:c.919-2A>C)	.	.	1.71486889510802E-5	0.002
18	44113725	A	C	18	46533762	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.57123356397867E-5	0.03
18	44113725	A	G	18	46533762	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.57123356397867E-5	0.014
18	44113725	A	T	18	46533762	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.57123356397867E-5	0.012
18	44113726	A	C	18	46533763	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.002
18	44113726	A	G	18	46533763	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.002
18	44113726	A	T	18	46533763	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.002
18	44113727	C	A	18	46533764	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113727	C	G	18	46533764	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113727	C	T	18	46533764	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44113728	A	C	18	46533765	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.002
18	44113728	A	G	18	46533765	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.002
18	44113728	A	T	18	46533765	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.012
18	44113729	A	C	18	46533766	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.57123356397867E-5	0.014
18	44113729	A	G	18	46533766	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.57123356397867E-5	0.014
18	44113729	A	T	18	46533766	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.57123356397867E-5	0.012
18	44113730	A	C	18	46533767	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.002
18	44113730	A	G	18	46533767	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.002
18	44113730	A	T	18	46533767	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0288925866825E-5	0.008
18	44113731	A	C	18	46533768	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.27163650926202E-4	0.018
18	44113731	A	G	18	46533768	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.27163650926202E-4	0.018
18	44113731	A	T	18	46533768	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.27163650926202E-4	0.022
18	44113732	T	A	18	46533769	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.27163650926202E-4	0.022
18	44113732	T	C	18	46533769	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.27163650926202E-4	0.02
18	44113732	T	G	18	46533769	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.27163650926202E-4	0.018
18	44113733	A	C	18	46533770	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.58927937202005E-5	0.002
18	44113733	A	G	18	46533770	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.58927937202005E-5	0.002
18	44113733	A	T	18	46533770	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.71486889510802E-5	0.002
18	44113734	T	A	18	46533771	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.78864525412067E-5	0.0
18	44113734	T	C	18	46533771	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.78864525412067E-5	0.002
18	44113734	T	G	18	46533771	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.78864525412067E-5	0.002
18	44114290	C	A	18	46534327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.42529777802171E-4	0.0
18	44114290	C	G	18	46534327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.90317333684495E-5	0.0
18	44114290	C	T	18	46534327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.26501254653793E-5	0.0
18	44114291	A	C	18	46534328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.33351265023018E-4	0.002
18	44114291	A	G	18	46534328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.33351265023018E-4	0.0
18	44114291	A	T	18	46534328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.33351265023018E-4	0.002
18	44114292	A	C	18	46534329	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.915265420532018	0.686
18	44114292	A	G	18	46534329	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.933629577731159	0.702
18	44114292	A	T	18	46534329	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.882873711900462	0.688
18	44114293	C	A	18	46534330	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999985417230147	0.998
18	44114293	C	G	18	46534330	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999996861144782	0.968
18	44114293	C	T	18	46534330	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999981122175661	0.994
18	44114294	T	A	18	46534331	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.964515316645371	0.798
18	44114294	T	C	18	46534331	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.936553098058412	0.764
18	44114294	T	G	18	46534331	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.795035412269481	0.552
18	44114295	C	A	18	46534332	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.952837103565168	0.562
18	44114295	C	G	18	46534332	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.390386651817013	0.526
18	44114295	C	T	18	46534332	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.96290206236693E-5	0.0
18	44114296	A	C	18	46534333	y	y	splicing	LOXHD1(NM_001145472:exon10:c.879+2T>G;NM_144612:exon28:c.4212+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.879+2T>G;ENST00000398722:exon21:c.3378+2T>G;ENST00000579038:exon8:c.591+2T>G;ENST00000441893:exon9:c.1011+2T>G;ENST00000536736:exon28:c.4212+2T>G;ENST00000582408:exon9:c.879+2T>G;ENST00000441551:exon26:c.3594+2T>G;ENST00000536111:exon8:c.918+2T>G)	.	.	0.999966514958823	0.926
18	44114296	A	G	18	46534333	y	y	splicing	LOXHD1(NM_001145472:exon10:c.879+2T>C;NM_144612:exon28:c.4212+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.879+2T>C;ENST00000398722:exon21:c.3378+2T>C;ENST00000579038:exon8:c.591+2T>C;ENST00000441893:exon9:c.1011+2T>C;ENST00000536736:exon28:c.4212+2T>C;ENST00000582408:exon9:c.879+2T>C;ENST00000441551:exon26:c.3594+2T>C;ENST00000536111:exon8:c.918+2T>C)	.	.	0.999826379636187	0.902
18	44114296	A	T	18	46534333	y	y	splicing	LOXHD1(NM_001145472:exon10:c.879+2T>A;NM_144612:exon28:c.4212+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.879+2T>A;ENST00000398722:exon21:c.3378+2T>A;ENST00000579038:exon8:c.591+2T>A;ENST00000441893:exon9:c.1011+2T>A;ENST00000536736:exon28:c.4212+2T>A;ENST00000582408:exon9:c.879+2T>A;ENST00000441551:exon26:c.3594+2T>A;ENST00000536111:exon8:c.918+2T>A)	.	.	0.999966514958823	0.942
18	44114297	C	A	18	46534334	y	y	splicing	LOXHD1(NM_001145472:exon10:c.879+1G>T;NM_144612:exon28:c.4212+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.879+1G>T;ENST00000398722:exon21:c.3378+1G>T;ENST00000579038:exon8:c.591+1G>T;ENST00000441893:exon9:c.1011+1G>T;ENST00000536736:exon28:c.4212+1G>T;ENST00000582408:exon9:c.879+1G>T;ENST00000441551:exon26:c.3594+1G>T;ENST00000536111:exon8:c.918+1G>T)	.	.	0.999938990645747	0.946
18	44114297	C	G	18	46534334	y	y	splicing	LOXHD1(NM_001145472:exon10:c.879+1G>C;NM_144612:exon28:c.4212+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.879+1G>C;ENST00000398722:exon21:c.3378+1G>C;ENST00000579038:exon8:c.591+1G>C;ENST00000441893:exon9:c.1011+1G>C;ENST00000536736:exon28:c.4212+1G>C;ENST00000582408:exon9:c.879+1G>C;ENST00000441551:exon26:c.3594+1G>C;ENST00000536111:exon8:c.918+1G>C)	.	.	0.999938990645747	0.946
18	44114297	C	T	18	46534334	y	y	splicing	LOXHD1(NM_001145472:exon10:c.879+1G>A;NM_144612:exon28:c.4212+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.879+1G>A;ENST00000398722:exon21:c.3378+1G>A;ENST00000579038:exon8:c.591+1G>A;ENST00000441893:exon9:c.1011+1G>A;ENST00000536736:exon28:c.4212+1G>A;ENST00000582408:exon9:c.879+1G>A;ENST00000441551:exon26:c.3594+1G>A;ENST00000536111:exon8:c.918+1G>A)	.	.	0.999938422912956	0.946
18	44114298	G	A	18	46534335	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon27:c.C4212T:p.D1404D;LOXHD1:NM_001145472:exon9:c.C879T:p.D293D;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.C3594T:p.D1198D;ENSG00000167210:ENST00000300591:exon9:c.C879T:p.D293D;ENSG00000167210:ENST00000536111:exon7:c.C918T:p.D306D;ENSG00000167210:ENST00000536736:exon27:c.C4212T:p.D1404D;ENSG00000167210:ENST00000441893:exon8:c.C1011T:p.D337D;ENSG00000167210:ENST00000398722:exon20:c.C3378T:p.D1126D;ENSG00000167210:ENST00000579038:exon7:c.C591T:p.D197D;ENSG00000167210:ENST00000582408:exon8:c.C879T:p.D293D;	1.37891514082692E-4	0.066
18	44114298	G	C	18	46534335	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.C4212G:p.D1404E;LOXHD1:NM_001145472:exon9:c.C879G:p.D293E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.C3594G:p.D1198E;ENSG00000167210:ENST00000300591:exon9:c.C879G:p.D293E;ENSG00000167210:ENST00000536111:exon7:c.C918G:p.D306E;ENSG00000167210:ENST00000536736:exon27:c.C4212G:p.D1404E;ENSG00000167210:ENST00000441893:exon8:c.C1011G:p.D337E;ENSG00000167210:ENST00000398722:exon20:c.C3378G:p.D1126E;ENSG00000167210:ENST00000579038:exon7:c.C591G:p.D197E;ENSG00000167210:ENST00000582408:exon8:c.C879G:p.D293E;	1.81786364339225E-5	0.182
18	44114298	G	T	18	46534335	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.C4212A:p.D1404E;LOXHD1:NM_001145472:exon9:c.C879A:p.D293E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.C3594A:p.D1198E;ENSG00000167210:ENST00000300591:exon9:c.C879A:p.D293E;ENSG00000167210:ENST00000536111:exon7:c.C918A:p.D306E;ENSG00000167210:ENST00000536736:exon27:c.C4212A:p.D1404E;ENSG00000167210:ENST00000441893:exon8:c.C1011A:p.D337E;ENSG00000167210:ENST00000398722:exon20:c.C3378A:p.D1126E;ENSG00000167210:ENST00000579038:exon7:c.C591A:p.D197E;ENSG00000167210:ENST00000582408:exon8:c.C879A:p.D293E;	4.806351585029E-5	0.136
18	44114299	T	A	18	46534336	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.A4211T:p.D1404V;LOXHD1:NM_001145472:exon9:c.A878T:p.D293V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.A3593T:p.D1198V;ENSG00000167210:ENST00000300591:exon9:c.A878T:p.D293V;ENSG00000167210:ENST00000536111:exon7:c.A917T:p.D306V;ENSG00000167210:ENST00000536736:exon27:c.A4211T:p.D1404V;ENSG00000167210:ENST00000441893:exon8:c.A1010T:p.D337V;ENSG00000167210:ENST00000398722:exon20:c.A3377T:p.D1126V;ENSG00000167210:ENST00000579038:exon7:c.A590T:p.D197V;ENSG00000167210:ENST00000582408:exon8:c.A878T:p.D293V;	0.910379921106774	0.616
18	44114299	T	C	18	46534336	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.A4211G:p.D1404G;LOXHD1:NM_001145472:exon9:c.A878G:p.D293G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.A3593G:p.D1198G;ENSG00000167210:ENST00000300591:exon9:c.A878G:p.D293G;ENSG00000167210:ENST00000536111:exon7:c.A917G:p.D306G;ENSG00000167210:ENST00000536736:exon27:c.A4211G:p.D1404G;ENSG00000167210:ENST00000441893:exon8:c.A1010G:p.D337G;ENSG00000167210:ENST00000398722:exon20:c.A3377G:p.D1126G;ENSG00000167210:ENST00000579038:exon7:c.A590G:p.D197G;ENSG00000167210:ENST00000582408:exon8:c.A878G:p.D293G;	0.770892912470386	0.548
18	44114299	T	G	18	46534336	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.A4211C:p.D1404A;LOXHD1:NM_001145472:exon9:c.A878C:p.D293A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.A3593C:p.D1198A;ENSG00000167210:ENST00000300591:exon9:c.A878C:p.D293A;ENSG00000167210:ENST00000536111:exon7:c.A917C:p.D306A;ENSG00000167210:ENST00000536736:exon27:c.A4211C:p.D1404A;ENSG00000167210:ENST00000441893:exon8:c.A1010C:p.D337A;ENSG00000167210:ENST00000398722:exon20:c.A3377C:p.D1126A;ENSG00000167210:ENST00000579038:exon7:c.A590C:p.D197A;ENSG00000167210:ENST00000582408:exon8:c.A878C:p.D293A;	0.464010806810474	0.422
18	44114300	C	A	18	46534337	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.G4210T:p.D1404Y;LOXHD1:NM_001145472:exon9:c.G877T:p.D293Y;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.G3592T:p.D1198Y;ENSG00000167210:ENST00000300591:exon9:c.G877T:p.D293Y;ENSG00000167210:ENST00000536111:exon7:c.G916T:p.D306Y;ENSG00000167210:ENST00000536736:exon27:c.G4210T:p.D1404Y;ENSG00000167210:ENST00000441893:exon8:c.G1009T:p.D337Y;ENSG00000167210:ENST00000398722:exon20:c.G3376T:p.D1126Y;ENSG00000167210:ENST00000579038:exon7:c.G589T:p.D197Y;ENSG00000167210:ENST00000582408:exon8:c.G877T:p.D293Y;	0.0587066561186428	0.252
18	44114300	C	G	18	46534337	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.G4210C:p.D1404H;LOXHD1:NM_001145472:exon9:c.G877C:p.D293H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.G3592C:p.D1198H;ENSG00000167210:ENST00000300591:exon9:c.G877C:p.D293H;ENSG00000167210:ENST00000536111:exon7:c.G916C:p.D306H;ENSG00000167210:ENST00000536736:exon27:c.G4210C:p.D1404H;ENSG00000167210:ENST00000441893:exon8:c.G1009C:p.D337H;ENSG00000167210:ENST00000398722:exon20:c.G3376C:p.D1126H;ENSG00000167210:ENST00000579038:exon7:c.G589C:p.D197H;ENSG00000167210:ENST00000582408:exon8:c.G877C:p.D293H;	7.01685935634403E-4	0.018
18	44114300	C	T	18	46534337	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.G4210A:p.D1404N;LOXHD1:NM_001145472:exon9:c.G877A:p.D293N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.G3592A:p.D1198N;ENSG00000167210:ENST00000300591:exon9:c.G877A:p.D293N;ENSG00000167210:ENST00000536111:exon7:c.G916A:p.D306N;ENSG00000167210:ENST00000536736:exon27:c.G4210A:p.D1404N;ENSG00000167210:ENST00000441893:exon8:c.G1009A:p.D337N;ENSG00000167210:ENST00000398722:exon20:c.G3376A:p.D1126N;ENSG00000167210:ENST00000579038:exon7:c.G589A:p.D197N;ENSG00000167210:ENST00000582408:exon8:c.G877A:p.D293N;	0.00197138059591839	0.012
18	44114413	A	C	18	46534450	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon27:c.T4097G:p.L1366X;LOXHD1:NM_001145472:exon9:c.T764G:p.L255X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon25:c.T3479G:p.L1160X;ENSG00000167210:ENST00000300591:exon9:c.T764G:p.L255X;ENSG00000167210:ENST00000536111:exon7:c.T803G:p.L268X;ENSG00000167210:ENST00000536736:exon27:c.T4097G:p.L1366X;ENSG00000167210:ENST00000441893:exon8:c.T896G:p.L299X;ENSG00000167210:ENST00000398722:exon20:c.T3263G:p.L1088X;ENSG00000167210:ENST00000579038:exon7:c.T476G:p.L159X;ENSG00000167210:ENST00000582408:exon8:c.T764G:p.L255X;	0.315780879396279	0.418
18	44114413	A	G	18	46534450	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.T4097C:p.L1366S;LOXHD1:NM_001145472:exon9:c.T764C:p.L255S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.T3479C:p.L1160S;ENSG00000167210:ENST00000300591:exon9:c.T764C:p.L255S;ENSG00000167210:ENST00000536111:exon7:c.T803C:p.L268S;ENSG00000167210:ENST00000536736:exon27:c.T4097C:p.L1366S;ENSG00000167210:ENST00000441893:exon8:c.T896C:p.L299S;ENSG00000167210:ENST00000398722:exon20:c.T3263C:p.L1088S;ENSG00000167210:ENST00000579038:exon7:c.T476C:p.L159S;ENSG00000167210:ENST00000582408:exon8:c.T764C:p.L255S;	0.100614555238711	0.212
18	44114413	A	T	18	46534450	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon27:c.T4097A:p.L1366X;LOXHD1:NM_001145472:exon9:c.T764A:p.L255X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon25:c.T3479A:p.L1160X;ENSG00000167210:ENST00000300591:exon9:c.T764A:p.L255X;ENSG00000167210:ENST00000536111:exon7:c.T803A:p.L268X;ENSG00000167210:ENST00000536736:exon27:c.T4097A:p.L1366X;ENSG00000167210:ENST00000441893:exon8:c.T896A:p.L299X;ENSG00000167210:ENST00000398722:exon20:c.T3263A:p.L1088X;ENSG00000167210:ENST00000579038:exon7:c.T476A:p.L159X;ENSG00000167210:ENST00000582408:exon8:c.T764A:p.L255X;	0.350214685412607	0.526
18	44114414	A	C	18	46534451	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.T4096G:p.L1366V;LOXHD1:NM_001145472:exon9:c.T763G:p.L255V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.T3478G:p.L1160V;ENSG00000167210:ENST00000300591:exon9:c.T763G:p.L255V;ENSG00000167210:ENST00000536111:exon7:c.T802G:p.L268V;ENSG00000167210:ENST00000536736:exon27:c.T4096G:p.L1366V;ENSG00000167210:ENST00000441893:exon8:c.T895G:p.L299V;ENSG00000167210:ENST00000398722:exon20:c.T3262G:p.L1088V;ENSG00000167210:ENST00000579038:exon7:c.T475G:p.L159V;ENSG00000167210:ENST00000582408:exon8:c.T763G:p.L255V;	0.00189500470166962	0.124
18	44114414	A	G	18	46534451	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon27:c.T4096C:p.L1366L;LOXHD1:NM_001145472:exon9:c.T763C:p.L255L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.T3478C:p.L1160L;ENSG00000167210:ENST00000300591:exon9:c.T763C:p.L255L;ENSG00000167210:ENST00000536111:exon7:c.T802C:p.L268L;ENSG00000167210:ENST00000536736:exon27:c.T4096C:p.L1366L;ENSG00000167210:ENST00000441893:exon8:c.T895C:p.L299L;ENSG00000167210:ENST00000398722:exon20:c.T3262C:p.L1088L;ENSG00000167210:ENST00000579038:exon7:c.T475C:p.L159L;ENSG00000167210:ENST00000582408:exon8:c.T763C:p.L255L;	1.17851047794704E-4	0.01
18	44114414	A	T	18	46534451	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon27:c.T4096A:p.L1366I;LOXHD1:NM_001145472:exon9:c.T763A:p.L255I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon25:c.T3478A:p.L1160I;ENSG00000167210:ENST00000300591:exon9:c.T763A:p.L255I;ENSG00000167210:ENST00000536111:exon7:c.T802A:p.L268I;ENSG00000167210:ENST00000536736:exon27:c.T4096A:p.L1366I;ENSG00000167210:ENST00000441893:exon8:c.T895A:p.L299I;ENSG00000167210:ENST00000398722:exon20:c.T3262A:p.L1088I;ENSG00000167210:ENST00000579038:exon7:c.T475A:p.L159I;ENSG00000167210:ENST00000582408:exon8:c.T763A:p.L255I;	1.31691685438248E-4	0.0
18	44114415	C	A	18	46534452	y	y	splicing	LOXHD1(NM_001145472:exon10:c.763-1G>T;NM_144612:exon28:c.4096-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.763-1G>T;ENST00000398722:exon21:c.3262-1G>T;ENST00000579038:exon8:c.475-1G>T;ENST00000441893:exon9:c.895-1G>T;ENST00000536736:exon28:c.4096-1G>T;ENST00000582408:exon9:c.763-1G>T;ENST00000441551:exon26:c.3478-1G>T;ENST00000536111:exon8:c.802-1G>T)	.	.	0.999986675681007	0.952
18	44114415	C	G	18	46534452	y	y	splicing	LOXHD1(NM_001145472:exon10:c.763-1G>C;NM_144612:exon28:c.4096-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.763-1G>C;ENST00000398722:exon21:c.3262-1G>C;ENST00000579038:exon8:c.475-1G>C;ENST00000441893:exon9:c.895-1G>C;ENST00000536736:exon28:c.4096-1G>C;ENST00000582408:exon9:c.763-1G>C;ENST00000441551:exon26:c.3478-1G>C;ENST00000536111:exon8:c.802-1G>C)	.	.	0.999986675681007	0.952
18	44114415	C	T	18	46534452	y	y	splicing	LOXHD1(NM_001145472:exon10:c.763-1G>A;NM_144612:exon28:c.4096-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.763-1G>A;ENST00000398722:exon21:c.3262-1G>A;ENST00000579038:exon8:c.475-1G>A;ENST00000441893:exon9:c.895-1G>A;ENST00000536736:exon28:c.4096-1G>A;ENST00000582408:exon9:c.763-1G>A;ENST00000441551:exon26:c.3478-1G>A;ENST00000536111:exon8:c.802-1G>A)	.	.	0.999986675681007	0.952
18	44114416	T	A	18	46534453	y	y	splicing	LOXHD1(NM_001145472:exon10:c.763-2A>T;NM_144612:exon28:c.4096-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.763-2A>T;ENST00000398722:exon21:c.3262-2A>T;ENST00000579038:exon8:c.475-2A>T;ENST00000441893:exon9:c.895-2A>T;ENST00000536736:exon28:c.4096-2A>T;ENST00000582408:exon9:c.763-2A>T;ENST00000441551:exon26:c.3478-2A>T;ENST00000536111:exon8:c.802-2A>T)	.	.	0.999989917668626	0.94
18	44114416	T	C	18	46534453	y	y	splicing	LOXHD1(NM_001145472:exon10:c.763-2A>G;NM_144612:exon28:c.4096-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.763-2A>G;ENST00000398722:exon21:c.3262-2A>G;ENST00000579038:exon8:c.475-2A>G;ENST00000441893:exon9:c.895-2A>G;ENST00000536736:exon28:c.4096-2A>G;ENST00000582408:exon9:c.763-2A>G;ENST00000441551:exon26:c.3478-2A>G;ENST00000536111:exon8:c.802-2A>G)	.	.	0.999989917668626	0.94
18	44114416	T	G	18	46534453	y	y	splicing	LOXHD1(NM_001145472:exon10:c.763-2A>C;NM_144612:exon28:c.4096-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon10:c.763-2A>C;ENST00000398722:exon21:c.3262-2A>C;ENST00000579038:exon8:c.475-2A>C;ENST00000441893:exon9:c.895-2A>C;ENST00000536736:exon28:c.4096-2A>C;ENST00000582408:exon9:c.763-2A>C;ENST00000441551:exon26:c.3478-2A>C;ENST00000536111:exon8:c.802-2A>C)	.	.	0.999989917668626	0.94
18	44114417	T	A	18	46534454	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.89808728782295E-4	0.06
18	44114417	T	C	18	46534454	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.696855589550387	0.546
18	44114417	T	G	18	46534454	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.1183287813975E-4	0.08
18	44114418	T	A	18	46534455	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00319941643590336	0.11
18	44114418	T	C	18	46534455	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.84393763691732E-4	0.046
18	44114418	T	G	18	46534455	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.59434766094235E-4	0.048
18	44114419	G	A	18	46534456	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.40953873746867E-4	0.018
18	44114419	G	C	18	46534456	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00802981226885977	0.158
18	44114419	G	T	18	46534456	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00226694115443559	0.118
18	44114420	G	A	18	46534457	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.63896073876242E-5	0.006
18	44114420	G	C	18	46534457	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0155798167953429	0.342
18	44114420	G	T	18	46534457	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0115478409597882	0.308
18	44114421	A	C	18	46534458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00430787252859205	0.14
18	44114421	A	G	18	46534458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.77212987292441E-4	0.014
18	44114421	A	T	18	46534458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00794479433488719	0.208
18	44114422	A	C	18	46534459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00156259669039806	0.164
18	44114422	A	G	18	46534459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.562754181439E-4	0.068
18	44114422	A	T	18	46534459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00138546178397161	0.164
18	44114423	A	C	18	46534460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0249988662512217	0.154
18	44114423	A	G	18	46534460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.67438972742618E-4	0.09
18	44114423	A	T	18	46534460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0361157932966382	0.234
18	44114424	G	A	18	46534461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.06679371334452E-5	0.0
18	44114424	G	C	18	46534461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.67543991777672E-4	0.058
18	44114424	G	T	18	46534461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.88833294288452E-4	0.046
18	44114425	G	A	18	46534462	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.56725257783566E-4	0.078
18	44114425	G	C	18	46534462	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00369091577244636	0.116
18	44114425	G	T	18	46534462	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00716637737321272	0.096
18	44114426	A	C	18	46534463	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0197358791866504	0.378
18	44114426	A	G	18	46534463	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0023966136499485	0.192
18	44114426	A	T	18	46534463	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0373283255395496	0.424
18	44118111	C	A	18	46538148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.90830532988475E-4	0.006
18	44118111	C	G	18	46538148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.14724866174412E-4	0.018
18	44118111	C	T	18	46538148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.38457597035038E-4	0.008
18	44118112	C	A	18	46538149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.55232293977891E-4	0.008
18	44118112	C	G	18	46538149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.14724866174412E-4	0.016
18	44118112	C	T	18	46538149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.57491786523094E-4	0.01
18	44118113	A	C	18	46538150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00143779498455895	0.148
18	44118113	A	G	18	46538150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00731070204195299	0.236
18	44118113	A	T	18	46538150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00664476751434923	0.168
18	44118114	A	C	18	46538151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.10929641869849E-5	0.012
18	44118114	A	G	18	46538151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.54383358341642E-5	0.0
18	44118114	A	T	18	46538151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.81282377895365E-5	0.014
18	44118115	G	A	18	46538152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.27146089527348E-4	0.02
18	44118115	G	C	18	46538152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.00365628980342E-4	0.058
18	44118115	G	T	18	46538152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.5785057662272E-5	0.004
18	44118116	T	A	18	46538153	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999621544601106	0.92
18	44118116	T	C	18	46538153	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.988079187884789	0.72
18	44118116	T	G	18	46538153	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99965802539637	0.916
18	44118117	A	C	18	46538154	y	y	splicing	LOXHD1(NM_001145472:exon9:c.762+2T>G;NM_144612:exon27:c.4095+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.762+2T>G;ENST00000398722:exon20:c.3261+2T>G;ENST00000579038:exon7:c.474+2T>G;ENST00000441893:exon8:c.894+2T>G;ENST00000536736:exon27:c.4095+2T>G;ENST00000582408:exon8:c.762+2T>G;ENST00000441551:exon25:c.3477+2T>G;ENST00000536111:exon7:c.801+2T>G)	.	.	0.999989917668626	0.924
18	44118117	A	G	18	46538154	y	y	splicing	LOXHD1(NM_001145472:exon9:c.762+2T>C;NM_144612:exon27:c.4095+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.762+2T>C;ENST00000398722:exon20:c.3261+2T>C;ENST00000579038:exon7:c.474+2T>C;ENST00000441893:exon8:c.894+2T>C;ENST00000536736:exon27:c.4095+2T>C;ENST00000582408:exon8:c.762+2T>C;ENST00000441551:exon25:c.3477+2T>C;ENST00000536111:exon7:c.801+2T>C)	.	.	0.985266808656705	0.614
18	44118117	A	T	18	46538154	y	y	splicing	LOXHD1(NM_001145472:exon9:c.762+2T>A;NM_144612:exon27:c.4095+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.762+2T>A;ENST00000398722:exon20:c.3261+2T>A;ENST00000579038:exon7:c.474+2T>A;ENST00000441893:exon8:c.894+2T>A;ENST00000536736:exon27:c.4095+2T>A;ENST00000582408:exon8:c.762+2T>A;ENST00000441551:exon25:c.3477+2T>A;ENST00000536111:exon7:c.801+2T>A)	.	.	0.999989917668626	0.924
18	44118118	C	A	18	46538155	y	y	splicing	LOXHD1(NM_001145472:exon9:c.762+1G>T;NM_144612:exon27:c.4095+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.762+1G>T;ENST00000398722:exon20:c.3261+1G>T;ENST00000579038:exon7:c.474+1G>T;ENST00000441893:exon8:c.894+1G>T;ENST00000536736:exon27:c.4095+1G>T;ENST00000582408:exon8:c.762+1G>T;ENST00000441551:exon25:c.3477+1G>T;ENST00000536111:exon7:c.801+1G>T)	.	.	0.999986675681007	0.938
18	44118118	C	G	18	46538155	y	y	splicing	LOXHD1(NM_001145472:exon9:c.762+1G>C;NM_144612:exon27:c.4095+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.762+1G>C;ENST00000398722:exon20:c.3261+1G>C;ENST00000579038:exon7:c.474+1G>C;ENST00000441893:exon8:c.894+1G>C;ENST00000536736:exon27:c.4095+1G>C;ENST00000582408:exon8:c.762+1G>C;ENST00000441551:exon25:c.3477+1G>C;ENST00000536111:exon7:c.801+1G>C)	.	.	0.999986675681007	0.938
18	44118118	C	T	18	46538155	y	y	splicing	LOXHD1(NM_001145472:exon9:c.762+1G>A;NM_144612:exon27:c.4095+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.762+1G>A;ENST00000398722:exon20:c.3261+1G>A;ENST00000579038:exon7:c.474+1G>A;ENST00000441893:exon8:c.894+1G>A;ENST00000536736:exon27:c.4095+1G>A;ENST00000582408:exon8:c.762+1G>A;ENST00000441551:exon25:c.3477+1G>A;ENST00000536111:exon7:c.801+1G>A)	.	.	0.999986675681007	0.938
18	44118119	C	A	18	46538156	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.G4095T:p.E1365D;LOXHD1:NM_001145472:exon8:c.G762T:p.E254D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.G3477T:p.E1159D;ENSG00000167210:ENST00000300591:exon8:c.G762T:p.E254D;ENSG00000167210:ENST00000536111:exon6:c.G801T:p.E267D;ENSG00000167210:ENST00000536736:exon26:c.G4095T:p.E1365D;ENSG00000167210:ENST00000441893:exon7:c.G894T:p.E298D;ENSG00000167210:ENST00000398722:exon19:c.G3261T:p.E1087D;ENSG00000167210:ENST00000579038:exon6:c.G474T:p.E158D;ENSG00000167210:ENST00000582408:exon7:c.G762T:p.E254D;	0.999988280925935	1.0
18	44118119	C	G	18	46538156	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.G4095C:p.E1365D;LOXHD1:NM_001145472:exon8:c.G762C:p.E254D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.G3477C:p.E1159D;ENSG00000167210:ENST00000300591:exon8:c.G762C:p.E254D;ENSG00000167210:ENST00000536111:exon6:c.G801C:p.E267D;ENSG00000167210:ENST00000536736:exon26:c.G4095C:p.E1365D;ENSG00000167210:ENST00000441893:exon7:c.G894C:p.E298D;ENSG00000167210:ENST00000398722:exon19:c.G3261C:p.E1087D;ENSG00000167210:ENST00000579038:exon6:c.G474C:p.E158D;ENSG00000167210:ENST00000582408:exon7:c.G762C:p.E254D;	0.999939708062732	0.994
18	44118119	C	T	18	46538156	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon26:c.G4095A:p.E1365E;LOXHD1:NM_001145472:exon8:c.G762A:p.E254E;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.G3477A:p.E1159E;ENSG00000167210:ENST00000300591:exon8:c.G762A:p.E254E;ENSG00000167210:ENST00000536111:exon6:c.G801A:p.E267E;ENSG00000167210:ENST00000536736:exon26:c.G4095A:p.E1365E;ENSG00000167210:ENST00000441893:exon7:c.G894A:p.E298E;ENSG00000167210:ENST00000398722:exon19:c.G3261A:p.E1087E;ENSG00000167210:ENST00000579038:exon6:c.G474A:p.E158E;ENSG00000167210:ENST00000582408:exon7:c.G762A:p.E254E;	0.999976834139164	1.0
18	44118120	T	A	18	46538157	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.A4094T:p.E1365V;LOXHD1:NM_001145472:exon8:c.A761T:p.E254V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.A3476T:p.E1159V;ENSG00000167210:ENST00000300591:exon8:c.A761T:p.E254V;ENSG00000167210:ENST00000536111:exon6:c.A800T:p.E267V;ENSG00000167210:ENST00000536736:exon26:c.A4094T:p.E1365V;ENSG00000167210:ENST00000441893:exon7:c.A893T:p.E298V;ENSG00000167210:ENST00000398722:exon19:c.A3260T:p.E1087V;ENSG00000167210:ENST00000579038:exon6:c.A473T:p.E158V;ENSG00000167210:ENST00000582408:exon7:c.A761T:p.E254V;	0.99894719124351	0.99
18	44118120	T	C	18	46538157	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.A4094G:p.E1365G;LOXHD1:NM_001145472:exon8:c.A761G:p.E254G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.A3476G:p.E1159G;ENSG00000167210:ENST00000300591:exon8:c.A761G:p.E254G;ENSG00000167210:ENST00000536111:exon6:c.A800G:p.E267G;ENSG00000167210:ENST00000536736:exon26:c.A4094G:p.E1365G;ENSG00000167210:ENST00000441893:exon7:c.A893G:p.E298G;ENSG00000167210:ENST00000398722:exon19:c.A3260G:p.E1087G;ENSG00000167210:ENST00000579038:exon6:c.A473G:p.E158G;ENSG00000167210:ENST00000582408:exon7:c.A761G:p.E254G;	0.998850971144223	0.988
18	44118120	T	G	18	46538157	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.A4094C:p.E1365A;LOXHD1:NM_001145472:exon8:c.A761C:p.E254A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.A3476C:p.E1159A;ENSG00000167210:ENST00000300591:exon8:c.A761C:p.E254A;ENSG00000167210:ENST00000536111:exon6:c.A800C:p.E267A;ENSG00000167210:ENST00000536736:exon26:c.A4094C:p.E1365A;ENSG00000167210:ENST00000441893:exon7:c.A893C:p.E298A;ENSG00000167210:ENST00000398722:exon19:c.A3260C:p.E1087A;ENSG00000167210:ENST00000579038:exon6:c.A473C:p.E158A;ENSG00000167210:ENST00000582408:exon7:c.A761C:p.E254A;	0.997113206052264	0.952
18	44118121	C	A	18	46538158	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon26:c.G4093T:p.E1365X;LOXHD1:NM_001145472:exon8:c.G760T:p.E254X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon24:c.G3475T:p.E1159X;ENSG00000167210:ENST00000300591:exon8:c.G760T:p.E254X;ENSG00000167210:ENST00000536111:exon6:c.G799T:p.E267X;ENSG00000167210:ENST00000536736:exon26:c.G4093T:p.E1365X;ENSG00000167210:ENST00000441893:exon7:c.G892T:p.E298X;ENSG00000167210:ENST00000398722:exon19:c.G3259T:p.E1087X;ENSG00000167210:ENST00000579038:exon6:c.G472T:p.E158X;ENSG00000167210:ENST00000582408:exon7:c.G760T:p.E254X;	0.984208007790803	0.796
18	44118121	C	G	18	46538158	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.G4093C:p.E1365Q;LOXHD1:NM_001145472:exon8:c.G760C:p.E254Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.G3475C:p.E1159Q;ENSG00000167210:ENST00000300591:exon8:c.G760C:p.E254Q;ENSG00000167210:ENST00000536111:exon6:c.G799C:p.E267Q;ENSG00000167210:ENST00000536736:exon26:c.G4093C:p.E1365Q;ENSG00000167210:ENST00000441893:exon7:c.G892C:p.E298Q;ENSG00000167210:ENST00000398722:exon19:c.G3259C:p.E1087Q;ENSG00000167210:ENST00000579038:exon6:c.G472C:p.E158Q;ENSG00000167210:ENST00000582408:exon7:c.G760C:p.E254Q;	0.315490112641454	0.414
18	44118121	C	T	18	46538158	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.G4093A:p.E1365K;LOXHD1:NM_001145472:exon8:c.G760A:p.E254K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.G3475A:p.E1159K;ENSG00000167210:ENST00000300591:exon8:c.G760A:p.E254K;ENSG00000167210:ENST00000536111:exon6:c.G799A:p.E267K;ENSG00000167210:ENST00000536736:exon26:c.G4093A:p.E1365K;ENSG00000167210:ENST00000441893:exon7:c.G892A:p.E298K;ENSG00000167210:ENST00000398722:exon19:c.G3259A:p.E1087K;ENSG00000167210:ENST00000579038:exon6:c.G472A:p.E158K;ENSG00000167210:ENST00000582408:exon7:c.G760A:p.E254K;	0.918140181502792	0.67
18	44118299	A	C	18	46538336	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.T3915G:p.F1305L;LOXHD1:NM_001145472:exon8:c.T582G:p.F194L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.T3297G:p.F1099L;ENSG00000167210:ENST00000300591:exon8:c.T582G:p.F194L;ENSG00000167210:ENST00000536111:exon6:c.T621G:p.F207L;ENSG00000167210:ENST00000536736:exon26:c.T3915G:p.F1305L;ENSG00000167210:ENST00000441893:exon7:c.T714G:p.F238L;ENSG00000167210:ENST00000398722:exon19:c.T3081G:p.F1027L;ENSG00000167210:ENST00000579038:exon6:c.T294G:p.F98L;ENSG00000167210:ENST00000582408:exon7:c.T582G:p.F194L;	0.00644116686096979	0.092
18	44118299	A	G	18	46538336	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon26:c.T3915C:p.F1305F;LOXHD1:NM_001145472:exon8:c.T582C:p.F194F;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.T3297C:p.F1099F;ENSG00000167210:ENST00000300591:exon8:c.T582C:p.F194F;ENSG00000167210:ENST00000536111:exon6:c.T621C:p.F207F;ENSG00000167210:ENST00000536736:exon26:c.T3915C:p.F1305F;ENSG00000167210:ENST00000441893:exon7:c.T714C:p.F238F;ENSG00000167210:ENST00000398722:exon19:c.T3081C:p.F1027F;ENSG00000167210:ENST00000579038:exon6:c.T294C:p.F98F;ENSG00000167210:ENST00000582408:exon7:c.T582C:p.F194F;	0.0399569417674865	0.14
18	44118299	A	T	18	46538336	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.T3915A:p.F1305L;LOXHD1:NM_001145472:exon8:c.T582A:p.F194L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.T3297A:p.F1099L;ENSG00000167210:ENST00000300591:exon8:c.T582A:p.F194L;ENSG00000167210:ENST00000536111:exon6:c.T621A:p.F207L;ENSG00000167210:ENST00000536736:exon26:c.T3915A:p.F1305L;ENSG00000167210:ENST00000441893:exon7:c.T714A:p.F238L;ENSG00000167210:ENST00000398722:exon19:c.T3081A:p.F1027L;ENSG00000167210:ENST00000579038:exon6:c.T294A:p.F98L;ENSG00000167210:ENST00000582408:exon7:c.T582A:p.F194L;	0.0394067738223851	0.166
18	44118300	A	C	18	46538337	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.T3914G:p.F1305C;LOXHD1:NM_001145472:exon8:c.T581G:p.F194C;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.T3296G:p.F1099C;ENSG00000167210:ENST00000300591:exon8:c.T581G:p.F194C;ENSG00000167210:ENST00000536111:exon6:c.T620G:p.F207C;ENSG00000167210:ENST00000536736:exon26:c.T3914G:p.F1305C;ENSG00000167210:ENST00000441893:exon7:c.T713G:p.F238C;ENSG00000167210:ENST00000398722:exon19:c.T3080G:p.F1027C;ENSG00000167210:ENST00000579038:exon6:c.T293G:p.F98C;ENSG00000167210:ENST00000582408:exon7:c.T581G:p.F194C;	0.00297694907871834	0.096
18	44118300	A	G	18	46538337	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.T3914C:p.F1305S;LOXHD1:NM_001145472:exon8:c.T581C:p.F194S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.T3296C:p.F1099S;ENSG00000167210:ENST00000300591:exon8:c.T581C:p.F194S;ENSG00000167210:ENST00000536111:exon6:c.T620C:p.F207S;ENSG00000167210:ENST00000536736:exon26:c.T3914C:p.F1305S;ENSG00000167210:ENST00000441893:exon7:c.T713C:p.F238S;ENSG00000167210:ENST00000398722:exon19:c.T3080C:p.F1027S;ENSG00000167210:ENST00000579038:exon6:c.T293C:p.F98S;ENSG00000167210:ENST00000582408:exon7:c.T581C:p.F194S;	0.00402887460523659	0.04
18	44118300	A	T	18	46538337	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon26:c.T3914A:p.F1305Y;LOXHD1:NM_001145472:exon8:c.T581A:p.F194Y;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon24:c.T3296A:p.F1099Y;ENSG00000167210:ENST00000300591:exon8:c.T581A:p.F194Y;ENSG00000167210:ENST00000536111:exon6:c.T620A:p.F207Y;ENSG00000167210:ENST00000536736:exon26:c.T3914A:p.F1305Y;ENSG00000167210:ENST00000441893:exon7:c.T713A:p.F238Y;ENSG00000167210:ENST00000398722:exon19:c.T3080A:p.F1027Y;ENSG00000167210:ENST00000579038:exon6:c.T293A:p.F98Y;ENSG00000167210:ENST00000582408:exon7:c.T581A:p.F194Y;	0.00203063501234863	0.06
18	44118301	C	A	18	46538338	y	y	splicing	LOXHD1(NM_001145472:exon9:c.581-1G>T;NM_144612:exon27:c.3914-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.581-1G>T;ENST00000398722:exon20:c.3080-1G>T;ENST00000579038:exon7:c.293-1G>T;ENST00000441893:exon8:c.713-1G>T;ENST00000536736:exon27:c.3914-1G>T;ENST00000582408:exon8:c.581-1G>T;ENST00000441551:exon25:c.3296-1G>T;ENST00000536111:exon7:c.620-1G>T)	.	.	0.999985605487397	0.9
18	44118301	C	G	18	46538338	y	y	splicing	LOXHD1(NM_001145472:exon9:c.581-1G>C;NM_144612:exon27:c.3914-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.581-1G>C;ENST00000398722:exon20:c.3080-1G>C;ENST00000579038:exon7:c.293-1G>C;ENST00000441893:exon8:c.713-1G>C;ENST00000536736:exon27:c.3914-1G>C;ENST00000582408:exon8:c.581-1G>C;ENST00000441551:exon25:c.3296-1G>C;ENST00000536111:exon7:c.620-1G>C)	.	.	0.999985605487397	0.9
18	44118301	C	T	18	46538338	y	y	splicing	LOXHD1(NM_001145472:exon9:c.581-1G>A;NM_144612:exon27:c.3914-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.581-1G>A;ENST00000398722:exon20:c.3080-1G>A;ENST00000579038:exon7:c.293-1G>A;ENST00000441893:exon8:c.713-1G>A;ENST00000536736:exon27:c.3914-1G>A;ENST00000582408:exon8:c.581-1G>A;ENST00000441551:exon25:c.3296-1G>A;ENST00000536111:exon7:c.620-1G>A)	.	.	0.999985605487397	0.9
18	44118302	T	A	18	46538339	y	y	splicing	LOXHD1(NM_001145472:exon9:c.581-2A>T;NM_144612:exon27:c.3914-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.581-2A>T;ENST00000398722:exon20:c.3080-2A>T;ENST00000579038:exon7:c.293-2A>T;ENST00000441893:exon8:c.713-2A>T;ENST00000536736:exon27:c.3914-2A>T;ENST00000582408:exon8:c.581-2A>T;ENST00000441551:exon25:c.3296-2A>T;ENST00000536111:exon7:c.620-2A>T)	.	.	0.999952590261929	0.904
18	44118302	T	C	18	46538339	y	y	splicing	LOXHD1(NM_001145472:exon9:c.581-2A>G;NM_144612:exon27:c.3914-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.581-2A>G;ENST00000398722:exon20:c.3080-2A>G;ENST00000579038:exon7:c.293-2A>G;ENST00000441893:exon8:c.713-2A>G;ENST00000536736:exon27:c.3914-2A>G;ENST00000582408:exon8:c.581-2A>G;ENST00000441551:exon25:c.3296-2A>G;ENST00000536111:exon7:c.620-2A>G)	.	.	0.999952590261929	0.902
18	44118302	T	G	18	46538339	y	y	splicing	LOXHD1(NM_001145472:exon9:c.581-2A>C;NM_144612:exon27:c.3914-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon9:c.581-2A>C;ENST00000398722:exon20:c.3080-2A>C;ENST00000579038:exon7:c.293-2A>C;ENST00000441893:exon8:c.713-2A>C;ENST00000536736:exon27:c.3914-2A>C;ENST00000582408:exon8:c.581-2A>C;ENST00000441551:exon25:c.3296-2A>C;ENST00000536111:exon7:c.620-2A>C)	.	.	0.999952590261929	0.902
18	44118303	G	A	18	46538340	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.42019086362393E-4	0.104
18	44118303	G	C	18	46538340	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.972452977379248	0.778
18	44118303	G	T	18	46538340	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.909715777126695	0.756
18	44118304	A	C	18	46538341	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.79064645312347E-4	0.006
18	44118304	A	G	18	46538341	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.43434917313925E-5	0.002
18	44118304	A	T	18	46538341	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.19315518472209E-5	0.0
18	44118305	G	A	18	46538342	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.03635743860985E-4	0.016
18	44118305	G	C	18	46538342	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0148240688098052	0.188
18	44118305	G	T	18	46538342	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0148240688098052	0.172
18	44118306	G	A	18	46538343	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.70723047802924E-5	0.01
18	44118306	G	C	18	46538343	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00418633623601706	0.258
18	44118306	G	T	18	46538343	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00433744034751053	0.258
18	44118307	G	A	18	46538344	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.9640322322987E-5	0.002
18	44118307	G	C	18	46538344	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999638768015775	0.992
18	44118307	G	T	18	46538344	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0125738847021927	0.204
18	44118308	T	A	18	46538345	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.98431771231864E-5	0.032
18	44118308	T	C	18	46538345	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.8563516996863E-5	0.012
18	44118308	T	G	18	46538345	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.98431771231864E-5	0.008
18	44118309	G	A	18	46538346	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.66401231053052E-5	0.014
18	44118309	G	C	18	46538346	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00686315041642739	0.126
18	44118309	G	T	18	46538346	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.20397990631422E-4	0.102
18	44118310	G	A	18	46538347	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.15630602913633E-4	0.106
18	44118310	G	C	18	46538347	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999651364409625	0.972
18	44118310	G	T	18	46538347	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00220159602535651	0.16
18	44118311	T	A	18	46538348	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.61339967115545E-5	0.05
18	44118311	T	C	18	46538348	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.39020213775435E-5	0.002
18	44118311	T	G	18	46538348	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.61339967115545E-5	0.008
18	44118312	G	A	18	46538349	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.94551585543281E-4	0.048
18	44118312	G	C	18	46538349	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0155463937080679	0.176
18	44118312	G	T	18	46538349	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00447880955308345	0.104
18	44121731	G	A	18	46541768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.83042770587348E-5	0.032
18	44121731	G	C	18	46541768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.16011839518506E-5	0.07
18	44121731	G	T	18	46541768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.0322123270135E-5	0.034
18	44121732	T	A	18	46541769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.00272121164069E-5	0.004
18	44121732	T	C	18	46541769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.82561547688412E-5	0.0
18	44121732	T	G	18	46541769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.48258465148196E-5	0.0
18	44121733	T	A	18	46541770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.12556982646594E-5	0.016
18	44121733	T	C	18	46541770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.43789907784573E-5	0.012
18	44121733	T	G	18	46541770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.67175214443803E-5	0.05
18	44121734	C	A	18	46541771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999971799620995	0.984
18	44121734	C	G	18	46541771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999971799620995	1.0
18	44121734	C	T	18	46541771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999956770655615	1.0
18	44121735	C	A	18	46541772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.69421804469354E-4	0.284
18	44121735	C	G	18	46541772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00181510241039522	0.428
18	44121735	C	T	18	46541772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.06562526103225E-4	0.03
18	44121736	T	A	18	46541773	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999933815147856	0.95
18	44121736	T	C	18	46541773	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999650563532551	0.95
18	44121736	T	G	18	46541773	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999970863103968	0.964
18	44121737	A	C	18	46541774	y	y	splicing	LOXHD1(NM_001145472:exon8:c.580+2T>G;NM_144612:exon26:c.3913+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.580+2T>G;ENST00000398722:exon19:c.3079+2T>G;ENST00000579038:exon6:c.292+2T>G;ENST00000441893:exon7:c.712+2T>G;ENST00000536736:exon26:c.3913+2T>G;ENST00000582408:exon7:c.580+2T>G;ENST00000441551:exon24:c.3295+2T>G;ENST00000536111:exon6:c.619+2T>G)	.	.	0.999992861718126	0.936
18	44121737	A	G	18	46541774	y	y	splicing	LOXHD1(NM_001145472:exon8:c.580+2T>C;NM_144612:exon26:c.3913+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.580+2T>C;ENST00000398722:exon19:c.3079+2T>C;ENST00000579038:exon6:c.292+2T>C;ENST00000441893:exon7:c.712+2T>C;ENST00000536736:exon26:c.3913+2T>C;ENST00000582408:exon7:c.580+2T>C;ENST00000441551:exon24:c.3295+2T>C;ENST00000536111:exon6:c.619+2T>C)	.	.	0.99073191220992	0.596
18	44121737	A	T	18	46541774	y	y	splicing	LOXHD1(NM_001145472:exon8:c.580+2T>A;NM_144612:exon26:c.3913+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.580+2T>A;ENST00000398722:exon19:c.3079+2T>A;ENST00000579038:exon6:c.292+2T>A;ENST00000441893:exon7:c.712+2T>A;ENST00000536736:exon26:c.3913+2T>A;ENST00000582408:exon7:c.580+2T>A;ENST00000441551:exon24:c.3295+2T>A;ENST00000536111:exon6:c.619+2T>A)	.	.	0.999992861718126	0.936
18	44121738	C	A	18	46541775	y	y	splicing	LOXHD1(NM_001145472:exon8:c.580+1G>T;NM_144612:exon26:c.3913+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.580+1G>T;ENST00000398722:exon19:c.3079+1G>T;ENST00000579038:exon6:c.292+1G>T;ENST00000441893:exon7:c.712+1G>T;ENST00000536736:exon26:c.3913+1G>T;ENST00000582408:exon7:c.580+1G>T;ENST00000441551:exon24:c.3295+1G>T;ENST00000536111:exon6:c.619+1G>T)	.	.	0.999986741007567	0.936
18	44121738	C	G	18	46541775	y	y	splicing	LOXHD1(NM_001145472:exon8:c.580+1G>C;NM_144612:exon26:c.3913+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.580+1G>C;ENST00000398722:exon19:c.3079+1G>C;ENST00000579038:exon6:c.292+1G>C;ENST00000441893:exon7:c.712+1G>C;ENST00000536736:exon26:c.3913+1G>C;ENST00000582408:exon7:c.580+1G>C;ENST00000441551:exon24:c.3295+1G>C;ENST00000536111:exon6:c.619+1G>C)	.	.	0.999986741007567	0.936
18	44121738	C	T	18	46541775	y	y	splicing	LOXHD1(NM_001145472:exon8:c.580+1G>A;NM_144612:exon26:c.3913+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.580+1G>A;ENST00000398722:exon19:c.3079+1G>A;ENST00000579038:exon6:c.292+1G>A;ENST00000441893:exon7:c.712+1G>A;ENST00000536736:exon26:c.3913+1G>A;ENST00000582408:exon7:c.580+1G>A;ENST00000441551:exon24:c.3295+1G>A;ENST00000536111:exon6:c.619+1G>A)	.	.	0.999986741007567	0.936
18	44121739	A	C	18	46541776	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.T3913G:p.F1305V;LOXHD1:NM_001145472:exon7:c.T580G:p.F194V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.T3295G:p.F1099V;ENSG00000167210:ENST00000300591:exon7:c.T580G:p.F194V;ENSG00000167210:ENST00000536111:exon5:c.T619G:p.F207V;ENSG00000167210:ENST00000536736:exon25:c.T3913G:p.F1305V;ENSG00000167210:ENST00000441893:exon6:c.T712G:p.F238V;ENSG00000167210:ENST00000398722:exon18:c.T3079G:p.F1027V;ENSG00000167210:ENST00000579038:exon5:c.T292G:p.F98V;ENSG00000167210:ENST00000582408:exon6:c.T580G:p.F194V;	0.0615779190411899	0.278
18	44121739	A	G	18	46541776	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.T3913C:p.F1305L;LOXHD1:NM_001145472:exon7:c.T580C:p.F194L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.T3295C:p.F1099L;ENSG00000167210:ENST00000300591:exon7:c.T580C:p.F194L;ENSG00000167210:ENST00000536111:exon5:c.T619C:p.F207L;ENSG00000167210:ENST00000536736:exon25:c.T3913C:p.F1305L;ENSG00000167210:ENST00000441893:exon6:c.T712C:p.F238L;ENSG00000167210:ENST00000398722:exon18:c.T3079C:p.F1027L;ENSG00000167210:ENST00000579038:exon5:c.T292C:p.F98L;ENSG00000167210:ENST00000582408:exon6:c.T580C:p.F194L;	0.791545554236886	0.736
18	44121739	A	T	18	46541776	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.T3913A:p.F1305I;LOXHD1:NM_001145472:exon7:c.T580A:p.F194I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.T3295A:p.F1099I;ENSG00000167210:ENST00000300591:exon7:c.T580A:p.F194I;ENSG00000167210:ENST00000536111:exon5:c.T619A:p.F207I;ENSG00000167210:ENST00000536736:exon25:c.T3913A:p.F1305I;ENSG00000167210:ENST00000441893:exon6:c.T712A:p.F238I;ENSG00000167210:ENST00000398722:exon18:c.T3079A:p.F1027I;ENSG00000167210:ENST00000579038:exon5:c.T292A:p.F98I;ENSG00000167210:ENST00000582408:exon6:c.T580A:p.F194I;	0.628512972856786	0.59
18	44121740	T	A	18	46541777	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon25:c.A3912T:p.P1304P;LOXHD1:NM_001145472:exon7:c.A579T:p.P193P;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.A3294T:p.P1098P;ENSG00000167210:ENST00000300591:exon7:c.A579T:p.P193P;ENSG00000167210:ENST00000536111:exon5:c.A618T:p.P206P;ENSG00000167210:ENST00000536736:exon25:c.A3912T:p.P1304P;ENSG00000167210:ENST00000441893:exon6:c.A711T:p.P237P;ENSG00000167210:ENST00000398722:exon18:c.A3078T:p.P1026P;ENSG00000167210:ENST00000579038:exon5:c.A291T:p.P97P;ENSG00000167210:ENST00000582408:exon6:c.A579T:p.P193P;	0.999919848180951	0.968
18	44121740	T	C	18	46541777	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon25:c.A3912G:p.P1304P;LOXHD1:NM_001145472:exon7:c.A579G:p.P193P;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.A3294G:p.P1098P;ENSG00000167210:ENST00000300591:exon7:c.A579G:p.P193P;ENSG00000167210:ENST00000536111:exon5:c.A618G:p.P206P;ENSG00000167210:ENST00000536736:exon25:c.A3912G:p.P1304P;ENSG00000167210:ENST00000441893:exon6:c.A711G:p.P237P;ENSG00000167210:ENST00000398722:exon18:c.A3078G:p.P1026P;ENSG00000167210:ENST00000579038:exon5:c.A291G:p.P97P;ENSG00000167210:ENST00000582408:exon6:c.A579G:p.P193P;	0.999959791258651	0.966
18	44121740	T	G	18	46541777	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon25:c.A3912C:p.P1304P;LOXHD1:NM_001145472:exon7:c.A579C:p.P193P;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.A3294C:p.P1098P;ENSG00000167210:ENST00000300591:exon7:c.A579C:p.P193P;ENSG00000167210:ENST00000536111:exon5:c.A618C:p.P206P;ENSG00000167210:ENST00000536736:exon25:c.A3912C:p.P1304P;ENSG00000167210:ENST00000441893:exon6:c.A711C:p.P237P;ENSG00000167210:ENST00000398722:exon18:c.A3078C:p.P1026P;ENSG00000167210:ENST00000579038:exon5:c.A291C:p.P97P;ENSG00000167210:ENST00000582408:exon6:c.A579C:p.P193P;	0.999956304713942	0.974
18	44121741	G	A	18	46541778	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.C3911T:p.P1304L;LOXHD1:NM_001145472:exon7:c.C578T:p.P193L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.C3293T:p.P1098L;ENSG00000167210:ENST00000300591:exon7:c.C578T:p.P193L;ENSG00000167210:ENST00000536111:exon5:c.C617T:p.P206L;ENSG00000167210:ENST00000536736:exon25:c.C3911T:p.P1304L;ENSG00000167210:ENST00000441893:exon6:c.C710T:p.P237L;ENSG00000167210:ENST00000398722:exon18:c.C3077T:p.P1026L;ENSG00000167210:ENST00000579038:exon5:c.C290T:p.P97L;ENSG00000167210:ENST00000582408:exon6:c.C578T:p.P193L;	0.999404885086379	0.948
18	44121741	G	C	18	46541778	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.C3911G:p.P1304R;LOXHD1:NM_001145472:exon7:c.C578G:p.P193R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.C3293G:p.P1098R;ENSG00000167210:ENST00000300591:exon7:c.C578G:p.P193R;ENSG00000167210:ENST00000536111:exon5:c.C617G:p.P206R;ENSG00000167210:ENST00000536736:exon25:c.C3911G:p.P1304R;ENSG00000167210:ENST00000441893:exon6:c.C710G:p.P237R;ENSG00000167210:ENST00000398722:exon18:c.C3077G:p.P1026R;ENSG00000167210:ENST00000579038:exon5:c.C290G:p.P97R;ENSG00000167210:ENST00000582408:exon6:c.C578G:p.P193R;	0.845630319964566	0.674
18	44121741	G	T	18	46541778	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.C3911A:p.P1304Q;LOXHD1:NM_001145472:exon7:c.C578A:p.P193Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.C3293A:p.P1098Q;ENSG00000167210:ENST00000300591:exon7:c.C578A:p.P193Q;ENSG00000167210:ENST00000536111:exon5:c.C617A:p.P206Q;ENSG00000167210:ENST00000536736:exon25:c.C3911A:p.P1304Q;ENSG00000167210:ENST00000441893:exon6:c.C710A:p.P237Q;ENSG00000167210:ENST00000398722:exon18:c.C3077A:p.P1026Q;ENSG00000167210:ENST00000579038:exon5:c.C290A:p.P97Q;ENSG00000167210:ENST00000582408:exon6:c.C578A:p.P193Q;	0.526309217847318	0.532
18	44121902	G	A	18	46541939	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon25:c.C3750T:p.G1250G;LOXHD1:NM_001145472:exon7:c.C417T:p.G139G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.C3132T:p.G1044G;ENSG00000167210:ENST00000300591:exon7:c.C417T:p.G139G;ENSG00000167210:ENST00000536111:exon5:c.C456T:p.G152G;ENSG00000167210:ENST00000536736:exon25:c.C3750T:p.G1250G;ENSG00000167210:ENST00000441893:exon6:c.C549T:p.G183G;ENSG00000167210:ENST00000398722:exon18:c.C2916T:p.G972G;ENSG00000167210:ENST00000579038:exon5:c.C129T:p.G43G;ENSG00000167210:ENST00000582408:exon6:c.C417T:p.G139G;	1.4189721184161E-4	0.0
18	44121902	G	C	18	46541939	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon25:c.C3750G:p.G1250G;LOXHD1:NM_001145472:exon7:c.C417G:p.G139G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.C3132G:p.G1044G;ENSG00000167210:ENST00000300591:exon7:c.C417G:p.G139G;ENSG00000167210:ENST00000536111:exon5:c.C456G:p.G152G;ENSG00000167210:ENST00000536736:exon25:c.C3750G:p.G1250G;ENSG00000167210:ENST00000441893:exon6:c.C549G:p.G183G;ENSG00000167210:ENST00000398722:exon18:c.C2916G:p.G972G;ENSG00000167210:ENST00000579038:exon5:c.C129G:p.G43G;ENSG00000167210:ENST00000582408:exon6:c.C417G:p.G139G;	1.42442503182063E-4	0.016
18	44121902	G	T	18	46541939	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon25:c.C3750A:p.G1250G;LOXHD1:NM_001145472:exon7:c.C417A:p.G139G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.C3132A:p.G1044G;ENSG00000167210:ENST00000300591:exon7:c.C417A:p.G139G;ENSG00000167210:ENST00000536111:exon5:c.C456A:p.G152G;ENSG00000167210:ENST00000536736:exon25:c.C3750A:p.G1250G;ENSG00000167210:ENST00000441893:exon6:c.C549A:p.G183G;ENSG00000167210:ENST00000398722:exon18:c.C2916A:p.G972G;ENSG00000167210:ENST00000579038:exon5:c.C129A:p.G43G;ENSG00000167210:ENST00000582408:exon6:c.C417A:p.G139G;	1.20608127957578E-4	0.0
18	44121903	C	A	18	46541940	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.G3749T:p.G1250V;LOXHD1:NM_001145472:exon7:c.G416T:p.G139V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.G3131T:p.G1044V;ENSG00000167210:ENST00000300591:exon7:c.G416T:p.G139V;ENSG00000167210:ENST00000536111:exon5:c.G455T:p.G152V;ENSG00000167210:ENST00000536736:exon25:c.G3749T:p.G1250V;ENSG00000167210:ENST00000441893:exon6:c.G548T:p.G183V;ENSG00000167210:ENST00000398722:exon18:c.G2915T:p.G972V;ENSG00000167210:ENST00000579038:exon5:c.G128T:p.G43V;ENSG00000167210:ENST00000582408:exon6:c.G416T:p.G139V;	0.745292496665983	0.596
18	44121903	C	G	18	46541940	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.G3749C:p.G1250A;LOXHD1:NM_001145472:exon7:c.G416C:p.G139A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.G3131C:p.G1044A;ENSG00000167210:ENST00000300591:exon7:c.G416C:p.G139A;ENSG00000167210:ENST00000536111:exon5:c.G455C:p.G152A;ENSG00000167210:ENST00000536736:exon25:c.G3749C:p.G1250A;ENSG00000167210:ENST00000441893:exon6:c.G548C:p.G183A;ENSG00000167210:ENST00000398722:exon18:c.G2915C:p.G972A;ENSG00000167210:ENST00000579038:exon5:c.G128C:p.G43A;ENSG00000167210:ENST00000582408:exon6:c.G416C:p.G139A;	0.4049865375608	0.608
18	44121903	C	T	18	46541940	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon25:c.G3749A:p.G1250D;LOXHD1:NM_001145472:exon7:c.G416A:p.G139D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon23:c.G3131A:p.G1044D;ENSG00000167210:ENST00000300591:exon7:c.G416A:p.G139D;ENSG00000167210:ENST00000536111:exon5:c.G455A:p.G152D;ENSG00000167210:ENST00000536736:exon25:c.G3749A:p.G1250D;ENSG00000167210:ENST00000441893:exon6:c.G548A:p.G183D;ENSG00000167210:ENST00000398722:exon18:c.G2915A:p.G972D;ENSG00000167210:ENST00000579038:exon5:c.G128A:p.G43D;ENSG00000167210:ENST00000582408:exon6:c.G416A:p.G139D;	0.372950004059188	0.522
18	44121904	C	A	18	46541941	y	y	splicing	LOXHD1(NM_001145472:exon8:c.416-1G>T;NM_144612:exon26:c.3749-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.416-1G>T;ENST00000398722:exon19:c.2915-1G>T;ENST00000579038:exon6:c.128-1G>T;ENST00000441893:exon7:c.548-1G>T;ENST00000536736:exon26:c.3749-1G>T;ENST00000582408:exon7:c.416-1G>T;ENST00000441551:exon24:c.3131-1G>T;ENST00000536111:exon6:c.455-1G>T)	.	.	0.999988247793601	0.924
18	44121904	C	G	18	46541941	y	y	splicing	LOXHD1(NM_001145472:exon8:c.416-1G>C;NM_144612:exon26:c.3749-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.416-1G>C;ENST00000398722:exon19:c.2915-1G>C;ENST00000579038:exon6:c.128-1G>C;ENST00000441893:exon7:c.548-1G>C;ENST00000536736:exon26:c.3749-1G>C;ENST00000582408:exon7:c.416-1G>C;ENST00000441551:exon24:c.3131-1G>C;ENST00000536111:exon6:c.455-1G>C)	.	.	0.999988247793601	0.924
18	44121904	C	T	18	46541941	y	y	splicing	LOXHD1(NM_001145472:exon8:c.416-1G>A;NM_144612:exon26:c.3749-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.416-1G>A;ENST00000398722:exon19:c.2915-1G>A;ENST00000579038:exon6:c.128-1G>A;ENST00000441893:exon7:c.548-1G>A;ENST00000536736:exon26:c.3749-1G>A;ENST00000582408:exon7:c.416-1G>A;ENST00000441551:exon24:c.3131-1G>A;ENST00000536111:exon6:c.455-1G>A)	.	.	0.999988247793601	0.924
18	44121905	T	A	18	46541942	y	y	splicing	LOXHD1(NM_001145472:exon8:c.416-2A>T;NM_144612:exon26:c.3749-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.416-2A>T;ENST00000398722:exon19:c.2915-2A>T;ENST00000579038:exon6:c.128-2A>T;ENST00000441893:exon7:c.548-2A>T;ENST00000536736:exon26:c.3749-2A>T;ENST00000582408:exon7:c.416-2A>T;ENST00000441551:exon24:c.3131-2A>T;ENST00000536111:exon6:c.455-2A>T)	.	.	0.999993519952936	0.928
18	44121905	T	C	18	46541942	y	y	splicing	LOXHD1(NM_001145472:exon8:c.416-2A>G;NM_144612:exon26:c.3749-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.416-2A>G;ENST00000398722:exon19:c.2915-2A>G;ENST00000579038:exon6:c.128-2A>G;ENST00000441893:exon7:c.548-2A>G;ENST00000536736:exon26:c.3749-2A>G;ENST00000582408:exon7:c.416-2A>G;ENST00000441551:exon24:c.3131-2A>G;ENST00000536111:exon6:c.455-2A>G)	.	.	0.999993519952936	0.928
18	44121905	T	G	18	46541942	y	y	splicing	LOXHD1(NM_001145472:exon8:c.416-2A>C;NM_144612:exon26:c.3749-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon8:c.416-2A>C;ENST00000398722:exon19:c.2915-2A>C;ENST00000579038:exon6:c.128-2A>C;ENST00000441893:exon7:c.548-2A>C;ENST00000536736:exon26:c.3749-2A>C;ENST00000582408:exon7:c.416-2A>C;ENST00000441551:exon24:c.3131-2A>C;ENST00000536111:exon6:c.455-2A>C)	.	.	0.999993519952936	0.928
18	44121906	A	C	18	46541943	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.448112633595488	0.532
18	44121906	A	G	18	46541943	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.91311840433411E-5	0.004
18	44121906	A	T	18	46541943	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00121975387603482	0.134
18	44121907	G	A	18	46541944	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.47609309647555E-6	0.0
18	44121907	G	C	18	46541944	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.99730834909545E-6	0.0
18	44121907	G	T	18	46541944	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.30443102273126E-6	0.0
18	44121908	A	C	18	46541945	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.76283842807144E-5	0.124
18	44121908	A	G	18	46541945	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.51138667882919E-5	0.026
18	44121908	A	T	18	46541945	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.39046538079259E-5	0.128
18	44121909	G	A	18	46541946	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.85375656538541E-5	0.002
18	44121909	G	C	18	46541946	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.9957682024888E-5	0.092
18	44121909	G	T	18	46541946	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.68230713813049E-5	0.018
18	44121910	A	C	18	46541947	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.03241906431126E-5	0.036
18	44121910	A	G	18	46541947	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.52334237493387E-6	0.008
18	44121910	A	T	18	46541947	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.03241906431126E-5	0.034
18	44121911	G	A	18	46541948	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.83717897917421E-5	0.02
18	44121911	G	C	18	46541948	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.65073893283849E-5	0.036
18	44121911	G	T	18	46541948	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.55026196068401E-5	0.042
18	44121912	A	C	18	46541949	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.01904784933395E-4	0.082
18	44121912	A	G	18	46541949	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.91017396415229E-4	0.002
18	44121912	A	T	18	46541949	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.27868372934195E-4	0.07
18	44121913	G	A	18	46541950	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.86537748784181E-6	0.004
18	44121913	G	C	18	46541950	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.71298973918885E-5	0.006
18	44121913	G	T	18	46541950	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.15106524004778E-5	0.026
18	44121914	A	C	18	46541951	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.72732409582086E-4	0.092
18	44121914	A	G	18	46541951	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.21243472825904E-4	0.03
18	44121914	A	T	18	46541951	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.27056743134058E-4	0.126
18	44121915	G	A	18	46541952	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.62666196356428E-5	0.006
18	44121915	G	C	18	46541952	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.01277391611677E-6	0.01
18	44121915	G	T	18	46541952	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.11787801473337E-5	0.02
18	44122682	A	C	18	46542719	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.28290728823224E-4	0.002
18	44122682	A	G	18	46542719	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.09549498850697E-4	0.004
18	44122682	A	T	18	46542719	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.82477974049137E-4	0.004
18	44122683	G	A	18	46542720	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.81360913568829E-4	0.0
18	44122683	G	C	18	46542720	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.44225400957569E-4	0.0
18	44122683	G	T	18	46542720	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.77993525610891E-5	0.0
18	44122684	C	A	18	46542721	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.86936725642124E-4	0.0
18	44122684	C	G	18	46542721	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.63422265777506E-5	0.01
18	44122684	C	T	18	46542721	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.02250907058467E-4	0.08
18	44122685	C	A	18	46542722	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999993163033042	0.942
18	44122685	C	G	18	46542722	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999982914365543	0.93
18	44122685	C	T	18	46542722	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99985803810424	0.902
18	44122686	A	C	18	46542723	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.86062504148986E-4	0.008
18	44122686	A	G	18	46542723	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0128050305398733	0.214
18	44122686	A	T	18	46542723	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.35467181206903E-4	0.084
18	44122687	C	A	18	46542724	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.67439817613501E-4	0.046
18	44122687	C	G	18	46542724	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00311143855017472	0.058
18	44122687	C	T	18	46542724	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.50122678578087E-5	0.092
18	44122688	A	C	18	46542725	y	y	splicing	LOXHD1(NM_001145472:exon7:c.415+2T>G;NM_144612:exon25:c.3748+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.415+2T>G;ENST00000398722:exon18:c.2914+2T>G;ENST00000579038:exon5:c.127+2T>G;ENST00000441893:exon6:c.547+2T>G;ENST00000536736:exon25:c.3748+2T>G;ENST00000582408:exon6:c.415+2T>G;ENST00000441551:exon23:c.3130+2T>G;ENST00000536111:exon5:c.454+2T>G)	.	.	0.999946188727699	0.944
18	44122688	A	G	18	46542725	y	y	splicing	LOXHD1(NM_001145472:exon7:c.415+2T>C;NM_144612:exon25:c.3748+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.415+2T>C;ENST00000398722:exon18:c.2914+2T>C;ENST00000579038:exon5:c.127+2T>C;ENST00000441893:exon6:c.547+2T>C;ENST00000536736:exon25:c.3748+2T>C;ENST00000582408:exon6:c.415+2T>C;ENST00000441551:exon23:c.3130+2T>C;ENST00000536111:exon5:c.454+2T>C)	.	.	0.999721011602728	0.91
18	44122688	A	T	18	46542725	y	y	splicing	LOXHD1(NM_001145472:exon7:c.415+2T>A;NM_144612:exon25:c.3748+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.415+2T>A;ENST00000398722:exon18:c.2914+2T>A;ENST00000579038:exon5:c.127+2T>A;ENST00000441893:exon6:c.547+2T>A;ENST00000536736:exon25:c.3748+2T>A;ENST00000582408:exon6:c.415+2T>A;ENST00000441551:exon23:c.3130+2T>A;ENST00000536111:exon5:c.454+2T>A)	.	.	0.99994568797423	0.946
18	44122689	C	A	18	46542726	y	y	splicing	LOXHD1(NM_001145472:exon7:c.415+1G>T;NM_144612:exon25:c.3748+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.415+1G>T;ENST00000398722:exon18:c.2914+1G>T;ENST00000579038:exon5:c.127+1G>T;ENST00000441893:exon6:c.547+1G>T;ENST00000536736:exon25:c.3748+1G>T;ENST00000582408:exon6:c.415+1G>T;ENST00000441551:exon23:c.3130+1G>T;ENST00000536111:exon5:c.454+1G>T)	.	.	0.999949496871441	0.946
18	44122689	C	G	18	46542726	y	y	splicing	LOXHD1(NM_001145472:exon7:c.415+1G>C;NM_144612:exon25:c.3748+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.415+1G>C;ENST00000398722:exon18:c.2914+1G>C;ENST00000579038:exon5:c.127+1G>C;ENST00000441893:exon6:c.547+1G>C;ENST00000536736:exon25:c.3748+1G>C;ENST00000582408:exon6:c.415+1G>C;ENST00000441551:exon23:c.3130+1G>C;ENST00000536111:exon5:c.454+1G>C)	.	.	0.999949496871441	0.944
18	44122689	C	T	18	46542726	y	y	splicing	LOXHD1(NM_001145472:exon7:c.415+1G>A;NM_144612:exon25:c.3748+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.415+1G>A;ENST00000398722:exon18:c.2914+1G>A;ENST00000579038:exon5:c.127+1G>A;ENST00000441893:exon6:c.547+1G>A;ENST00000536736:exon25:c.3748+1G>A;ENST00000582408:exon6:c.415+1G>A;ENST00000441551:exon23:c.3130+1G>A;ENST00000536111:exon5:c.454+1G>A)	.	.	0.999949496871441	0.946
18	44122690	C	A	18	46542727	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.G3748T:p.G1250C;LOXHD1:NM_001145472:exon6:c.G415T:p.G139C;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.G3130T:p.G1044C;ENSG00000167210:ENST00000300591:exon6:c.G415T:p.G139C;ENSG00000167210:ENST00000536111:exon4:c.G454T:p.G152C;ENSG00000167210:ENST00000536736:exon24:c.G3748T:p.G1250C;ENSG00000167210:ENST00000441893:exon5:c.G547T:p.G183C;ENSG00000167210:ENST00000398722:exon17:c.G2914T:p.G972C;ENSG00000167210:ENST00000579038:exon4:c.G127T:p.G43C;ENSG00000167210:ENST00000582408:exon5:c.G415T:p.G139C;	0.999966535591233	0.956
18	44122690	C	G	18	46542727	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.G3748C:p.G1250R;LOXHD1:NM_001145472:exon6:c.G415C:p.G139R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.G3130C:p.G1044R;ENSG00000167210:ENST00000300591:exon6:c.G415C:p.G139R;ENSG00000167210:ENST00000536111:exon4:c.G454C:p.G152R;ENSG00000167210:ENST00000536736:exon24:c.G3748C:p.G1250R;ENSG00000167210:ENST00000441893:exon5:c.G547C:p.G183R;ENSG00000167210:ENST00000398722:exon17:c.G2914C:p.G972R;ENSG00000167210:ENST00000579038:exon4:c.G127C:p.G43R;ENSG00000167210:ENST00000582408:exon5:c.G415C:p.G139R;	0.999991116653892	0.974
18	44122690	C	T	18	46542727	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.G3748A:p.G1250S;LOXHD1:NM_001145472:exon6:c.G415A:p.G139S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.G3130A:p.G1044S;ENSG00000167210:ENST00000300591:exon6:c.G415A:p.G139S;ENSG00000167210:ENST00000536111:exon4:c.G454A:p.G152S;ENSG00000167210:ENST00000536736:exon24:c.G3748A:p.G1250S;ENSG00000167210:ENST00000441893:exon5:c.G547A:p.G183S;ENSG00000167210:ENST00000398722:exon17:c.G2914A:p.G972S;ENSG00000167210:ENST00000579038:exon4:c.G127A:p.G43S;ENSG00000167210:ENST00000582408:exon5:c.G415A:p.G139S;	0.999984243154782	0.994
18	44122691	T	A	18	46542728	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon24:c.A3747T:p.T1249T;LOXHD1:NM_001145472:exon6:c.A414T:p.T138T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.A3129T:p.T1043T;ENSG00000167210:ENST00000300591:exon6:c.A414T:p.T138T;ENSG00000167210:ENST00000536111:exon4:c.A453T:p.T151T;ENSG00000167210:ENST00000536736:exon24:c.A3747T:p.T1249T;ENSG00000167210:ENST00000441893:exon5:c.A546T:p.T182T;ENSG00000167210:ENST00000398722:exon17:c.A2913T:p.T971T;ENSG00000167210:ENST00000579038:exon4:c.A126T:p.T42T;ENSG00000167210:ENST00000582408:exon5:c.A414T:p.T138T;	0.980715472839674	0.708
18	44122691	T	C	18	46542728	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon24:c.A3747G:p.T1249T;LOXHD1:NM_001145472:exon6:c.A414G:p.T138T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.A3129G:p.T1043T;ENSG00000167210:ENST00000300591:exon6:c.A414G:p.T138T;ENSG00000167210:ENST00000536111:exon4:c.A453G:p.T151T;ENSG00000167210:ENST00000536736:exon24:c.A3747G:p.T1249T;ENSG00000167210:ENST00000441893:exon5:c.A546G:p.T182T;ENSG00000167210:ENST00000398722:exon17:c.A2913G:p.T971T;ENSG00000167210:ENST00000579038:exon4:c.A126G:p.T42T;ENSG00000167210:ENST00000582408:exon5:c.A414G:p.T138T;	0.967149085740023	0.702
18	44122691	T	G	18	46542728	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon24:c.A3747C:p.T1249T;LOXHD1:NM_001145472:exon6:c.A414C:p.T138T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.A3129C:p.T1043T;ENSG00000167210:ENST00000300591:exon6:c.A414C:p.T138T;ENSG00000167210:ENST00000536111:exon4:c.A453C:p.T151T;ENSG00000167210:ENST00000536736:exon24:c.A3747C:p.T1249T;ENSG00000167210:ENST00000441893:exon5:c.A546C:p.T182T;ENSG00000167210:ENST00000398722:exon17:c.A2913C:p.T971T;ENSG00000167210:ENST00000579038:exon4:c.A126C:p.T42T;ENSG00000167210:ENST00000582408:exon5:c.A414C:p.T138T;	0.617397554561861	0.536
18	44122692	G	A	18	46542729	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.C3746T:p.T1249I;LOXHD1:NM_001145472:exon6:c.C413T:p.T138I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.C3128T:p.T1043I;ENSG00000167210:ENST00000300591:exon6:c.C413T:p.T138I;ENSG00000167210:ENST00000536111:exon4:c.C452T:p.T151I;ENSG00000167210:ENST00000536736:exon24:c.C3746T:p.T1249I;ENSG00000167210:ENST00000441893:exon5:c.C545T:p.T182I;ENSG00000167210:ENST00000398722:exon17:c.C2912T:p.T971I;ENSG00000167210:ENST00000579038:exon4:c.C125T:p.T42I;ENSG00000167210:ENST00000582408:exon5:c.C413T:p.T138I;	0.985182603119193	0.692
18	44122692	G	C	18	46542729	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.C3746G:p.T1249R;LOXHD1:NM_001145472:exon6:c.C413G:p.T138R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.C3128G:p.T1043R;ENSG00000167210:ENST00000300591:exon6:c.C413G:p.T138R;ENSG00000167210:ENST00000536111:exon4:c.C452G:p.T151R;ENSG00000167210:ENST00000536736:exon24:c.C3746G:p.T1249R;ENSG00000167210:ENST00000441893:exon5:c.C545G:p.T182R;ENSG00000167210:ENST00000398722:exon17:c.C2912G:p.T971R;ENSG00000167210:ENST00000579038:exon4:c.C125G:p.T42R;ENSG00000167210:ENST00000582408:exon5:c.C413G:p.T138R;	0.0692535763073705	0.36
18	44122692	G	T	18	46542729	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.C3746A:p.T1249K;LOXHD1:NM_001145472:exon6:c.C413A:p.T138K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.C3128A:p.T1043K;ENSG00000167210:ENST00000300591:exon6:c.C413A:p.T138K;ENSG00000167210:ENST00000536111:exon4:c.C452A:p.T151K;ENSG00000167210:ENST00000536736:exon24:c.C3746A:p.T1249K;ENSG00000167210:ENST00000441893:exon5:c.C545A:p.T182K;ENSG00000167210:ENST00000398722:exon17:c.C2912A:p.T971K;ENSG00000167210:ENST00000579038:exon4:c.C125A:p.T42K;ENSG00000167210:ENST00000582408:exon5:c.C413A:p.T138K;	0.0212217590281186	0.234
18	44122817	T	A	18	46542854	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon24:c.A3621T:p.G1207G;LOXHD1:NM_001145472:exon6:c.A288T:p.G96G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.A3003T:p.G1001G;ENSG00000167210:ENST00000300591:exon6:c.A288T:p.G96G;ENSG00000167210:ENST00000536111:exon4:c.A327T:p.G109G;ENSG00000167210:ENST00000536736:exon24:c.A3621T:p.G1207G;ENSG00000167210:ENST00000441893:exon5:c.A420T:p.G140G;ENSG00000167210:ENST00000398722:exon17:c.A2787T:p.G929G;ENSG00000167210:ENST00000582408:exon5:c.A288T:p.G96G;	9.20235927854346E-4	0.106
18	44122817	T	C	18	46542854	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon24:c.A3621G:p.G1207G;LOXHD1:NM_001145472:exon6:c.A288G:p.G96G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.A3003G:p.G1001G;ENSG00000167210:ENST00000300591:exon6:c.A288G:p.G96G;ENSG00000167210:ENST00000536111:exon4:c.A327G:p.G109G;ENSG00000167210:ENST00000536736:exon24:c.A3621G:p.G1207G;ENSG00000167210:ENST00000441893:exon5:c.A420G:p.G140G;ENSG00000167210:ENST00000398722:exon17:c.A2787G:p.G929G;ENSG00000167210:ENST00000582408:exon5:c.A288G:p.G96G;	0.00144930316403715	0.032
18	44122817	T	G	18	46542854	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon24:c.A3621C:p.G1207G;LOXHD1:NM_001145472:exon6:c.A288C:p.G96G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.A3003C:p.G1001G;ENSG00000167210:ENST00000300591:exon6:c.A288C:p.G96G;ENSG00000167210:ENST00000536111:exon4:c.A327C:p.G109G;ENSG00000167210:ENST00000536736:exon24:c.A3621C:p.G1207G;ENSG00000167210:ENST00000441893:exon5:c.A420C:p.G140G;ENSG00000167210:ENST00000398722:exon17:c.A2787C:p.G929G;ENSG00000167210:ENST00000582408:exon5:c.A288C:p.G96G;	0.0021476711739798	0.038
18	44122818	C	A	18	46542855	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.G3620T:p.G1207V;LOXHD1:NM_001145472:exon6:c.G287T:p.G96V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.G3002T:p.G1001V;ENSG00000167210:ENST00000300591:exon6:c.G287T:p.G96V;ENSG00000167210:ENST00000536111:exon4:c.G326T:p.G109V;ENSG00000167210:ENST00000536736:exon24:c.G3620T:p.G1207V;ENSG00000167210:ENST00000441893:exon5:c.G419T:p.G140V;ENSG00000167210:ENST00000398722:exon17:c.G2786T:p.G929V;ENSG00000167210:ENST00000582408:exon5:c.G287T:p.G96V;	0.999479727436352	0.972
18	44122818	C	G	18	46542855	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.G3620C:p.G1207A;LOXHD1:NM_001145472:exon6:c.G287C:p.G96A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.G3002C:p.G1001A;ENSG00000167210:ENST00000300591:exon6:c.G287C:p.G96A;ENSG00000167210:ENST00000536111:exon4:c.G326C:p.G109A;ENSG00000167210:ENST00000536736:exon24:c.G3620C:p.G1207A;ENSG00000167210:ENST00000441893:exon5:c.G419C:p.G140A;ENSG00000167210:ENST00000398722:exon17:c.G2786C:p.G929A;ENSG00000167210:ENST00000582408:exon5:c.G287C:p.G96A;	0.999669384493486	0.964
18	44122818	C	T	18	46542855	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon24:c.G3620A:p.G1207E;LOXHD1:NM_001145472:exon6:c.G287A:p.G96E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon22:c.G3002A:p.G1001E;ENSG00000167210:ENST00000300591:exon6:c.G287A:p.G96E;ENSG00000167210:ENST00000536111:exon4:c.G326A:p.G109E;ENSG00000167210:ENST00000536736:exon24:c.G3620A:p.G1207E;ENSG00000167210:ENST00000441893:exon5:c.G419A:p.G140E;ENSG00000167210:ENST00000398722:exon17:c.G2786A:p.G929E;ENSG00000167210:ENST00000582408:exon5:c.G287A:p.G96E;	0.999029327702863	0.958
18	44122819	C	A	18	46542856	y	y	splicing	LOXHD1(NM_001145472:exon7:c.287-1G>T;NM_144612:exon25:c.3620-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.287-1G>T;ENST00000398722:exon18:c.2786-1G>T;ENST00000441893:exon6:c.419-1G>T;ENST00000536736:exon25:c.3620-1G>T;ENST00000582408:exon6:c.287-1G>T;ENST00000441551:exon23:c.3002-1G>T;ENST00000536111:exon5:c.326-1G>T)	.	.	0.999987670894945	0.936
18	44122819	C	G	18	46542856	y	y	splicing	LOXHD1(NM_001145472:exon7:c.287-1G>C;NM_144612:exon25:c.3620-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.287-1G>C;ENST00000398722:exon18:c.2786-1G>C;ENST00000441893:exon6:c.419-1G>C;ENST00000536736:exon25:c.3620-1G>C;ENST00000582408:exon6:c.287-1G>C;ENST00000441551:exon23:c.3002-1G>C;ENST00000536111:exon5:c.326-1G>C)	.	.	0.999987670894945	0.936
18	44122819	C	T	18	46542856	y	y	splicing	LOXHD1(NM_001145472:exon7:c.287-1G>A;NM_144612:exon25:c.3620-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.287-1G>A;ENST00000398722:exon18:c.2786-1G>A;ENST00000441893:exon6:c.419-1G>A;ENST00000536736:exon25:c.3620-1G>A;ENST00000582408:exon6:c.287-1G>A;ENST00000441551:exon23:c.3002-1G>A;ENST00000536111:exon5:c.326-1G>A)	.	.	0.999987670894945	0.936
18	44122820	T	A	18	46542857	y	y	splicing	LOXHD1(NM_001145472:exon7:c.287-2A>T;NM_144612:exon25:c.3620-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.287-2A>T;ENST00000398722:exon18:c.2786-2A>T;ENST00000441893:exon6:c.419-2A>T;ENST00000536736:exon25:c.3620-2A>T;ENST00000582408:exon6:c.287-2A>T;ENST00000441551:exon23:c.3002-2A>T;ENST00000536111:exon5:c.326-2A>T)	.	.	0.999986741007567	0.934
18	44122820	T	C	18	46542857	y	y	splicing	LOXHD1(NM_001145472:exon7:c.287-2A>G;NM_144612:exon25:c.3620-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.287-2A>G;ENST00000398722:exon18:c.2786-2A>G;ENST00000441893:exon6:c.419-2A>G;ENST00000536736:exon25:c.3620-2A>G;ENST00000582408:exon6:c.287-2A>G;ENST00000441551:exon23:c.3002-2A>G;ENST00000536111:exon5:c.326-2A>G)	.	.	0.999986741007567	0.934
18	44122820	T	G	18	46542857	y	y	splicing	LOXHD1(NM_001145472:exon7:c.287-2A>C;NM_144612:exon25:c.3620-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon7:c.287-2A>C;ENST00000398722:exon18:c.2786-2A>C;ENST00000441893:exon6:c.419-2A>C;ENST00000536736:exon25:c.3620-2A>C;ENST00000582408:exon6:c.287-2A>C;ENST00000441551:exon23:c.3002-2A>C;ENST00000536111:exon5:c.326-2A>C)	.	.	0.999986741007567	0.934
18	44122821	G	A	18	46542858	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.27360104373356	0.364
18	44122821	G	C	18	46542858	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99997765696961	0.986
18	44122821	G	T	18	46542858	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99989878523149	0.922
18	44122822	T	A	18	46542859	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.97217408016613E-4	0.0
18	44122822	T	C	18	46542859	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.45016355604485E-5	0.0
18	44122822	T	G	18	46542859	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.02142901976356E-5	0.0
18	44122823	G	A	18	46542860	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.04328771893518E-6	0.006
18	44122823	G	C	18	46542860	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00117289437978333	0.08
18	44122823	G	T	18	46542860	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.20585039663688E-4	0.034
18	44122824	G	A	18	46542861	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.58214546206643E-5	0.002
18	44122824	G	C	18	46542861	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00507243476976537	0.238
18	44122824	G	T	18	46542861	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00467608612267289	0.244
18	44122825	A	C	18	46542862	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997822023944324	0.94
18	44122825	A	G	18	46542862	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.10990765384928E-4	0.014
18	44122825	A	T	18	46542862	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.128141796508665	0.392
18	44122826	T	A	18	46542863	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.98501777021816E-5	0.0
18	44122826	T	C	18	46542863	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45934467042911E-5	0.0
18	44122826	T	G	18	46542863	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.74213353921879E-5	0.0
18	44122827	C	A	18	46542864	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.01561594233301E-5	0.008
18	44122827	C	G	18	46542864	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.13933306932815E-5	0.004
18	44122827	C	T	18	46542864	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.88352620975002E-5	0.016
18	44122828	A	C	18	46542865	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00246799084906141	0.128
18	44122828	A	G	18	46542865	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.14053042447039E-5	0.0
18	44122828	A	T	18	46542865	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998141857633659	0.836
18	44122829	G	A	18	46542866	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.23774681805705E-5	0.006
18	44122829	G	C	18	46542866	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.04806680316142E-5	0.016
18	44122829	G	T	18	46542866	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.51036373410031E-4	0.048
18	44122830	A	C	18	46542867	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99993210246019	0.96
18	44122830	A	G	18	46542867	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0453176656301893	0.244
18	44122830	A	T	18	46542867	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.868416563638003	0.598
18	44125272	T	A	18	46545309	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.29734060801891E-5	0.006
18	44125272	T	C	18	46545309	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.95003246208845E-5	0.0
18	44125272	T	G	18	46545309	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.37713815572305E-5	0.0
18	44125273	T	A	18	46545310	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.00254316587307E-5	0.0
18	44125273	T	C	18	46545310	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.10172243913214E-4	0.0
18	44125273	T	G	18	46545310	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.54583771157E-5	0.0
18	44125274	T	A	18	46545311	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.99892583934737E-5	0.012
18	44125274	T	C	18	46545311	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.73645816639921E-5	0.014
18	44125274	T	G	18	46545311	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.14412279398991E-4	0.028
18	44125275	C	A	18	46545312	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999400996878724	0.672
18	44125275	C	G	18	46545312	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999679102367268	0.756
18	44125275	C	T	18	46545312	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998967336676837	0.656
18	44125276	T	A	18	46545313	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.782810232090821	0.602
18	44125276	T	C	18	46545313	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.637394333194457	0.57
18	44125276	T	G	18	46545313	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.539240991355254	0.404
18	44125277	T	A	18	46545314	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.935467058574391	0.708
18	44125277	T	C	18	46545314	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00147773423822243	0.066
18	44125277	T	G	18	46545314	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.933687975488206	0.742
18	44125278	A	C	18	46545315	y	y	splicing	LOXHD1(NM_001145472:exon6:c.286+2T>G;NM_144612:exon24:c.3619+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.286+2T>G;ENST00000398722:exon17:c.2785+2T>G;ENST00000441893:exon5:c.418+2T>G;ENST00000536736:exon24:c.3619+2T>G;ENST00000582408:exon5:c.286+2T>G;ENST00000441551:exon22:c.3001+2T>G;ENST00000536111:exon4:c.325+2T>G)	.	.	0.999964896440643	0.934
18	44125278	A	G	18	46545315	y	y	splicing	LOXHD1(NM_001145472:exon6:c.286+2T>C;NM_144612:exon24:c.3619+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.286+2T>C;ENST00000398722:exon17:c.2785+2T>C;ENST00000441893:exon5:c.418+2T>C;ENST00000536736:exon24:c.3619+2T>C;ENST00000582408:exon5:c.286+2T>C;ENST00000441551:exon22:c.3001+2T>C;ENST00000536111:exon4:c.325+2T>C)	.	.	0.999781903428527	0.892
18	44125278	A	T	18	46545315	y	y	splicing	LOXHD1(NM_001145472:exon6:c.286+2T>A;NM_144612:exon24:c.3619+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.286+2T>A;ENST00000398722:exon17:c.2785+2T>A;ENST00000441893:exon5:c.418+2T>A;ENST00000536736:exon24:c.3619+2T>A;ENST00000582408:exon5:c.286+2T>A;ENST00000441551:exon22:c.3001+2T>A;ENST00000536111:exon4:c.325+2T>A)	.	.	0.999946188727699	0.928
18	44125279	C	A	18	46545316	y	y	splicing	LOXHD1(NM_001145472:exon6:c.286+1G>T;NM_144612:exon24:c.3619+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.286+1G>T;ENST00000398722:exon17:c.2785+1G>T;ENST00000441893:exon5:c.418+1G>T;ENST00000536736:exon24:c.3619+1G>T;ENST00000582408:exon5:c.286+1G>T;ENST00000441551:exon22:c.3001+1G>T;ENST00000536111:exon4:c.325+1G>T)	.	.	0.99995586615188	0.946
18	44125279	C	G	18	46545316	y	y	splicing	LOXHD1(NM_001145472:exon6:c.286+1G>C;NM_144612:exon24:c.3619+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.286+1G>C;ENST00000398722:exon17:c.2785+1G>C;ENST00000441893:exon5:c.418+1G>C;ENST00000536736:exon24:c.3619+1G>C;ENST00000582408:exon5:c.286+1G>C;ENST00000441551:exon22:c.3001+1G>C;ENST00000536111:exon4:c.325+1G>C)	.	.	0.99995586615188	0.94
18	44125279	C	T	18	46545316	y	y	splicing	LOXHD1(NM_001145472:exon6:c.286+1G>A;NM_144612:exon24:c.3619+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.286+1G>A;ENST00000398722:exon17:c.2785+1G>A;ENST00000441893:exon5:c.418+1G>A;ENST00000536736:exon24:c.3619+1G>A;ENST00000582408:exon5:c.286+1G>A;ENST00000441551:exon22:c.3001+1G>A;ENST00000536111:exon4:c.325+1G>A)	.	.	0.99995586615188	0.948
18	44125280	C	A	18	46545317	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon23:c.G3619T:p.G1207X;LOXHD1:NM_001145472:exon5:c.G286T:p.G96X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon21:c.G3001T:p.G1001X;ENSG00000167210:ENST00000300591:exon5:c.G286T:p.G96X;ENSG00000167210:ENST00000536111:exon3:c.G325T:p.G109X;ENSG00000167210:ENST00000536736:exon23:c.G3619T:p.G1207X;ENSG00000167210:ENST00000441893:exon4:c.G418T:p.G140X;ENSG00000167210:ENST00000398722:exon16:c.G2785T:p.G929X;ENSG00000167210:ENST00000582408:exon4:c.G286T:p.G96X;	0.999986171096366	0.99
18	44125280	C	G	18	46545317	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.G3619C:p.G1207R;LOXHD1:NM_001145472:exon5:c.G286C:p.G96R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.G3001C:p.G1001R;ENSG00000167210:ENST00000300591:exon5:c.G286C:p.G96R;ENSG00000167210:ENST00000536111:exon3:c.G325C:p.G109R;ENSG00000167210:ENST00000536736:exon23:c.G3619C:p.G1207R;ENSG00000167210:ENST00000441893:exon4:c.G418C:p.G140R;ENSG00000167210:ENST00000398722:exon16:c.G2785C:p.G929R;ENSG00000167210:ENST00000582408:exon4:c.G286C:p.G96R;	0.99999106747077	0.88
18	44125280	C	T	18	46545317	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.G3619A:p.G1207R;LOXHD1:NM_001145472:exon5:c.G286A:p.G96R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.G3001A:p.G1001R;ENSG00000167210:ENST00000300591:exon5:c.G286A:p.G96R;ENSG00000167210:ENST00000536111:exon3:c.G325A:p.G109R;ENSG00000167210:ENST00000536736:exon23:c.G3619A:p.G1207R;ENSG00000167210:ENST00000441893:exon4:c.G418A:p.G140R;ENSG00000167210:ENST00000398722:exon16:c.G2785A:p.G929R;ENSG00000167210:ENST00000582408:exon4:c.G286A:p.G96R;	0.999926663565248	0.986
18	44125281	A	C	18	46545318	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon23:c.T3618G:p.T1206T;LOXHD1:NM_001145472:exon5:c.T285G:p.T95T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.T3000G:p.T1000T;ENSG00000167210:ENST00000300591:exon5:c.T285G:p.T95T;ENSG00000167210:ENST00000536111:exon3:c.T324G:p.T108T;ENSG00000167210:ENST00000536736:exon23:c.T3618G:p.T1206T;ENSG00000167210:ENST00000441893:exon4:c.T417G:p.T139T;ENSG00000167210:ENST00000398722:exon16:c.T2784G:p.T928T;ENSG00000167210:ENST00000582408:exon4:c.T285G:p.T95T;	2.42969034669012E-5	0.0
18	44125281	A	G	18	46545318	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon23:c.T3618C:p.T1206T;LOXHD1:NM_001145472:exon5:c.T285C:p.T95T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.T3000C:p.T1000T;ENSG00000167210:ENST00000300591:exon5:c.T285C:p.T95T;ENSG00000167210:ENST00000536111:exon3:c.T324C:p.T108T;ENSG00000167210:ENST00000536736:exon23:c.T3618C:p.T1206T;ENSG00000167210:ENST00000441893:exon4:c.T417C:p.T139T;ENSG00000167210:ENST00000398722:exon16:c.T2784C:p.T928T;ENSG00000167210:ENST00000582408:exon4:c.T285C:p.T95T;	1.47348756796826E-5	0.0
18	44125281	A	T	18	46545318	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon23:c.T3618A:p.T1206T;LOXHD1:NM_001145472:exon5:c.T285A:p.T95T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.T3000A:p.T1000T;ENSG00000167210:ENST00000300591:exon5:c.T285A:p.T95T;ENSG00000167210:ENST00000536111:exon3:c.T324A:p.T108T;ENSG00000167210:ENST00000536736:exon23:c.T3618A:p.T1206T;ENSG00000167210:ENST00000441893:exon4:c.T417A:p.T139T;ENSG00000167210:ENST00000398722:exon16:c.T2784A:p.T928T;ENSG00000167210:ENST00000582408:exon4:c.T285A:p.T95T;	3.78062026027987E-5	0.05
18	44125282	G	A	18	46545319	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.C3617T:p.T1206I;LOXHD1:NM_001145472:exon5:c.C284T:p.T95I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.C2999T:p.T1000I;ENSG00000167210:ENST00000300591:exon5:c.C284T:p.T95I;ENSG00000167210:ENST00000536111:exon3:c.C323T:p.T108I;ENSG00000167210:ENST00000536736:exon23:c.C3617T:p.T1206I;ENSG00000167210:ENST00000441893:exon4:c.C416T:p.T139I;ENSG00000167210:ENST00000398722:exon16:c.C2783T:p.T928I;ENSG00000167210:ENST00000582408:exon4:c.C284T:p.T95I;	0.00258848585943598	0.198
18	44125282	G	C	18	46545319	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.C3617G:p.T1206S;LOXHD1:NM_001145472:exon5:c.C284G:p.T95S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.C2999G:p.T1000S;ENSG00000167210:ENST00000300591:exon5:c.C284G:p.T95S;ENSG00000167210:ENST00000536111:exon3:c.C323G:p.T108S;ENSG00000167210:ENST00000536736:exon23:c.C3617G:p.T1206S;ENSG00000167210:ENST00000441893:exon4:c.C416G:p.T139S;ENSG00000167210:ENST00000398722:exon16:c.C2783G:p.T928S;ENSG00000167210:ENST00000582408:exon4:c.C284G:p.T95S;	3.55292278391354E-4	0.03
18	44125282	G	T	18	46545319	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.C3617A:p.T1206N;LOXHD1:NM_001145472:exon5:c.C284A:p.T95N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.C2999A:p.T1000N;ENSG00000167210:ENST00000300591:exon5:c.C284A:p.T95N;ENSG00000167210:ENST00000536111:exon3:c.C323A:p.T108N;ENSG00000167210:ENST00000536736:exon23:c.C3617A:p.T1206N;ENSG00000167210:ENST00000441893:exon4:c.C416A:p.T139N;ENSG00000167210:ENST00000398722:exon16:c.C2783A:p.T928N;ENSG00000167210:ENST00000582408:exon4:c.C284A:p.T95N;	2.77281994978218E-4	0.018
18	44125383	A	C	18	46545420	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.T3516G:p.D1172E;LOXHD1:NM_001145472:exon5:c.T183G:p.D61E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.T2898G:p.D966E;ENSG00000167210:ENST00000300591:exon5:c.T183G:p.D61E;ENSG00000167210:ENST00000536111:exon3:c.T222G:p.D74E;ENSG00000167210:ENST00000536736:exon23:c.T3516G:p.D1172E;ENSG00000167210:ENST00000441893:exon4:c.T315G:p.D105E;ENSG00000167210:ENST00000398722:exon16:c.T2682G:p.D894E;ENSG00000167210:ENST00000582408:exon4:c.T183G:p.D61E;	0.00523302235289935	0.09
18	44125383	A	G	18	46545420	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon23:c.T3516C:p.D1172D;LOXHD1:NM_001145472:exon5:c.T183C:p.D61D;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.T2898C:p.D966D;ENSG00000167210:ENST00000300591:exon5:c.T183C:p.D61D;ENSG00000167210:ENST00000536111:exon3:c.T222C:p.D74D;ENSG00000167210:ENST00000536736:exon23:c.T3516C:p.D1172D;ENSG00000167210:ENST00000441893:exon4:c.T315C:p.D105D;ENSG00000167210:ENST00000398722:exon16:c.T2682C:p.D894D;ENSG00000167210:ENST00000582408:exon4:c.T183C:p.D61D;	0.00247137215579887	0.114
18	44125383	A	T	18	46545420	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.T3516A:p.D1172E;LOXHD1:NM_001145472:exon5:c.T183A:p.D61E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.T2898A:p.D966E;ENSG00000167210:ENST00000300591:exon5:c.T183A:p.D61E;ENSG00000167210:ENST00000536111:exon3:c.T222A:p.D74E;ENSG00000167210:ENST00000536736:exon23:c.T3516A:p.D1172E;ENSG00000167210:ENST00000441893:exon4:c.T315A:p.D105E;ENSG00000167210:ENST00000398722:exon16:c.T2682A:p.D894E;ENSG00000167210:ENST00000582408:exon4:c.T183A:p.D61E;	0.00312859341721301	0.098
18	44125384	T	A	18	46545421	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.A3515T:p.D1172V;LOXHD1:NM_001145472:exon5:c.A182T:p.D61V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.A2897T:p.D966V;ENSG00000167210:ENST00000300591:exon5:c.A182T:p.D61V;ENSG00000167210:ENST00000536111:exon3:c.A221T:p.D74V;ENSG00000167210:ENST00000536736:exon23:c.A3515T:p.D1172V;ENSG00000167210:ENST00000441893:exon4:c.A314T:p.D105V;ENSG00000167210:ENST00000398722:exon16:c.A2681T:p.D894V;ENSG00000167210:ENST00000582408:exon4:c.A182T:p.D61V;	0.102836842221518	0.294
18	44125384	T	C	18	46545421	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.A3515G:p.D1172G;LOXHD1:NM_001145472:exon5:c.A182G:p.D61G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.A2897G:p.D966G;ENSG00000167210:ENST00000300591:exon5:c.A182G:p.D61G;ENSG00000167210:ENST00000536111:exon3:c.A221G:p.D74G;ENSG00000167210:ENST00000536736:exon23:c.A3515G:p.D1172G;ENSG00000167210:ENST00000441893:exon4:c.A314G:p.D105G;ENSG00000167210:ENST00000398722:exon16:c.A2681G:p.D894G;ENSG00000167210:ENST00000582408:exon4:c.A182G:p.D61G;	0.00358671136696467	0.032
18	44125384	T	G	18	46545421	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon23:c.A3515C:p.D1172A;LOXHD1:NM_001145472:exon5:c.A182C:p.D61A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon21:c.A2897C:p.D966A;ENSG00000167210:ENST00000300591:exon5:c.A182C:p.D61A;ENSG00000167210:ENST00000536111:exon3:c.A221C:p.D74A;ENSG00000167210:ENST00000536736:exon23:c.A3515C:p.D1172A;ENSG00000167210:ENST00000441893:exon4:c.A314C:p.D105A;ENSG00000167210:ENST00000398722:exon16:c.A2681C:p.D894A;ENSG00000167210:ENST00000582408:exon4:c.A182C:p.D61A;	0.0812526270359055	0.278
18	44125385	C	A	18	46545422	y	y	splicing	LOXHD1(NM_001145472:exon6:c.182-1G>T;NM_144612:exon24:c.3515-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.182-1G>T;ENST00000398722:exon17:c.2681-1G>T;ENST00000441893:exon5:c.314-1G>T;ENST00000536736:exon24:c.3515-1G>T;ENST00000582408:exon5:c.182-1G>T;ENST00000441551:exon22:c.2897-1G>T;ENST00000536111:exon4:c.221-1G>T)	.	.	0.999990361384395	0.948
18	44125385	C	G	18	46545422	y	y	splicing	LOXHD1(NM_001145472:exon6:c.182-1G>C;NM_144612:exon24:c.3515-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.182-1G>C;ENST00000398722:exon17:c.2681-1G>C;ENST00000441893:exon5:c.314-1G>C;ENST00000536736:exon24:c.3515-1G>C;ENST00000582408:exon5:c.182-1G>C;ENST00000441551:exon22:c.2897-1G>C;ENST00000536111:exon4:c.221-1G>C)	.	.	0.999990361384395	0.948
18	44125385	C	T	18	46545422	y	y	splicing	LOXHD1(NM_001145472:exon6:c.182-1G>A;NM_144612:exon24:c.3515-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.182-1G>A;ENST00000398722:exon17:c.2681-1G>A;ENST00000441893:exon5:c.314-1G>A;ENST00000536736:exon24:c.3515-1G>A;ENST00000582408:exon5:c.182-1G>A;ENST00000441551:exon22:c.2897-1G>A;ENST00000536111:exon4:c.221-1G>A)	.	.	0.999990361384395	0.948
18	44125386	T	A	18	46545423	y	y	splicing	LOXHD1(NM_001145472:exon6:c.182-2A>T;NM_144612:exon24:c.3515-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.182-2A>T;ENST00000398722:exon17:c.2681-2A>T;ENST00000441893:exon5:c.314-2A>T;ENST00000536736:exon24:c.3515-2A>T;ENST00000582408:exon5:c.182-2A>T;ENST00000441551:exon22:c.2897-2A>T;ENST00000536111:exon4:c.221-2A>T)	.	.	0.999988247793601	0.95
18	44125386	T	C	18	46545423	y	y	splicing	LOXHD1(NM_001145472:exon6:c.182-2A>G;NM_144612:exon24:c.3515-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.182-2A>G;ENST00000398722:exon17:c.2681-2A>G;ENST00000441893:exon5:c.314-2A>G;ENST00000536736:exon24:c.3515-2A>G;ENST00000582408:exon5:c.182-2A>G;ENST00000441551:exon22:c.2897-2A>G;ENST00000536111:exon4:c.221-2A>G)	.	.	0.999988247793601	0.95
18	44125386	T	G	18	46545423	y	y	splicing	LOXHD1(NM_001145472:exon6:c.182-2A>C;NM_144612:exon24:c.3515-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon6:c.182-2A>C;ENST00000398722:exon17:c.2681-2A>C;ENST00000441893:exon5:c.314-2A>C;ENST00000536736:exon24:c.3515-2A>C;ENST00000582408:exon5:c.182-2A>C;ENST00000441551:exon22:c.2897-2A>C;ENST00000536111:exon4:c.221-2A>C)	.	.	0.999988247793601	0.95
18	44125387	G	A	18	46545424	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.608584611457014	0.208
18	44125387	G	C	18	46545424	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999937512245838	0.986
18	44125387	G	T	18	46545424	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999801994564346	0.938
18	44125388	C	A	18	46545425	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.16964809240385E-4	0.07
18	44125388	C	G	18	46545425	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.08284533799047E-4	0.008
18	44125388	C	T	18	46545425	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.78548459803064E-4	0.008
18	44125389	C	A	18	46545426	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.50586670439571E-5	0.014
18	44125389	C	G	18	46545426	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.89562473830733E-4	0.022
18	44125389	C	T	18	46545426	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.847155006263143	0.608
18	44125390	A	C	18	46545427	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00308183789618725	0.22
18	44125390	A	G	18	46545427	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.63614184768693E-5	0.026
18	44125390	A	T	18	46545427	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998588418766917	0.968
18	44125391	A	C	18	46545428	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00111402350931514	0.106
18	44125391	A	G	18	46545428	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.19811572084641E-5	0.014
18	44125391	A	T	18	46545428	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00114696212057714	0.074
18	44125392	G	A	18	46545429	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.14946785171315E-4	0.028
18	44125392	G	C	18	46545429	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00238368326363123	0.098
18	44125392	G	T	18	46545429	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00210546928702642	0.18
18	44125393	A	C	18	46545430	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0128467271257927	0.26
18	44125393	A	G	18	46545430	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.29369293854046E-4	0.054
18	44125393	A	T	18	46545430	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.234190954570039	0.366
18	44125394	G	A	18	46545431	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00150823626320488	0.044
18	44125394	G	C	18	46545431	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.133440228297739	0.276
18	44125394	G	T	18	46545431	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.085570163189067	0.368
18	44125395	A	C	18	46545432	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.052846422694461	0.162
18	44125395	A	G	18	46545432	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.31674858602122E-4	0.038
18	44125395	A	T	18	46545432	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.149168454430035	0.21
18	44125396	A	C	18	46545433	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99960241832719	0.978
18	44125396	A	G	18	46545433	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.37474857874703E-4	0.044
18	44125396	A	T	18	46545433	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00729104310613193	0.288
18	44126850	T	A	18	46546887	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.55869924932381E-5	0.02
18	44126850	T	C	18	46546887	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.44454674516076E-5	0.024
18	44126850	T	G	18	46546887	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.44454674516076E-5	0.022
18	44126851	A	C	18	46546888	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.87680416612575E-5	0.03
18	44126851	A	G	18	46546888	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.87680416612575E-5	0.014
18	44126851	A	T	18	46546888	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.93008933363103E-5	0.006
18	44126852	G	A	18	46546889	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.09248307038413E-4	0.07
18	44126852	G	C	18	46546889	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.14310436211318E-5	0.076
18	44126852	G	T	18	46546889	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.26816511384354E-4	0.236
18	44126853	A	C	18	46546890	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.88016531040384E-5	0.0
18	44126853	A	G	18	46546890	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00201551688410183	0.068
18	44126853	A	T	18	46546890	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.54621522274343E-4	0.038
18	44126854	A	C	18	46546891	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00190458190328559	0.126
18	44126854	A	G	18	46546891	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.52995816315161E-5	0.154
18	44126854	A	T	18	46546891	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.66049098596372E-5	0.094
18	44126855	A	C	18	46546892	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.92977385830154E-5	0.098
18	44126855	A	G	18	46546892	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.62073744603758E-5	0.054
18	44126855	A	T	18	46546892	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.91889531780353E-5	0.012
18	44126856	A	C	18	46546893	y	y	splicing	LOXHD1(NM_001145472:exon5:c.181+2T>G;NM_144612:exon23:c.3514+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.181+2T>G;ENST00000398722:exon16:c.2680+2T>G;ENST00000441893:exon4:c.313+2T>G;ENST00000536736:exon23:c.3514+2T>G;ENST00000582408:exon4:c.181+2T>G;ENST00000441551:exon21:c.2896+2T>G;ENST00000536111:exon3:c.220+2T>G)	.	.	0.999817104767239	0.908
18	44126856	A	G	18	46546893	y	y	splicing	LOXHD1(NM_001145472:exon5:c.181+2T>C;NM_144612:exon23:c.3514+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.181+2T>C;ENST00000398722:exon16:c.2680+2T>C;ENST00000441893:exon4:c.313+2T>C;ENST00000536736:exon23:c.3514+2T>C;ENST00000582408:exon4:c.181+2T>C;ENST00000441551:exon21:c.2896+2T>C;ENST00000536111:exon3:c.220+2T>C)	.	.	0.995531342482449	0.804
18	44126856	A	T	18	46546893	y	y	splicing	LOXHD1(NM_001145472:exon5:c.181+2T>A;NM_144612:exon23:c.3514+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.181+2T>A;ENST00000398722:exon16:c.2680+2T>A;ENST00000441893:exon4:c.313+2T>A;ENST00000536736:exon23:c.3514+2T>A;ENST00000582408:exon4:c.181+2T>A;ENST00000441551:exon21:c.2896+2T>A;ENST00000536111:exon3:c.220+2T>A)	.	.	0.999907579480858	0.896
18	44126857	C	A	18	46546894	y	y	splicing	LOXHD1(NM_001145472:exon5:c.181+1G>T;NM_144612:exon23:c.3514+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.181+1G>T;ENST00000398722:exon16:c.2680+1G>T;ENST00000441893:exon4:c.313+1G>T;ENST00000536736:exon23:c.3514+1G>T;ENST00000582408:exon4:c.181+1G>T;ENST00000441551:exon21:c.2896+1G>T;ENST00000536111:exon3:c.220+1G>T)	.	.	0.999876515321407	0.88
18	44126857	C	G	18	46546894	y	y	splicing	LOXHD1(NM_001145472:exon5:c.181+1G>C;NM_144612:exon23:c.3514+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.181+1G>C;ENST00000398722:exon16:c.2680+1G>C;ENST00000441893:exon4:c.313+1G>C;ENST00000536736:exon23:c.3514+1G>C;ENST00000582408:exon4:c.181+1G>C;ENST00000441551:exon21:c.2896+1G>C;ENST00000536111:exon3:c.220+1G>C)	.	.	0.999876515321407	0.88
18	44126857	C	T	18	46546894	y	y	splicing	LOXHD1(NM_001145472:exon5:c.181+1G>A;NM_144612:exon23:c.3514+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.181+1G>A;ENST00000398722:exon16:c.2680+1G>A;ENST00000441893:exon4:c.313+1G>A;ENST00000536736:exon23:c.3514+1G>A;ENST00000582408:exon4:c.181+1G>A;ENST00000441551:exon21:c.2896+1G>A;ENST00000536111:exon3:c.220+1G>A)	.	.	0.999936976014398	0.888
18	44126858	C	A	18	46546895	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.G3514T:p.D1172Y;LOXHD1:NM_001145472:exon4:c.G181T:p.D61Y;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.G2896T:p.D966Y;ENSG00000167210:ENST00000300591:exon4:c.G181T:p.D61Y;ENSG00000167210:ENST00000536111:exon2:c.G220T:p.D74Y;ENSG00000167210:ENST00000536736:exon22:c.G3514T:p.D1172Y;ENSG00000167210:ENST00000441893:exon3:c.G313T:p.D105Y;ENSG00000167210:ENST00000398722:exon15:c.G2680T:p.D894Y;ENSG00000167210:ENST00000582408:exon3:c.G181T:p.D61Y;	0.999812218095133	0.938
18	44126858	C	G	18	46546895	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.G3514C:p.D1172H;LOXHD1:NM_001145472:exon4:c.G181C:p.D61H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.G2896C:p.D966H;ENSG00000167210:ENST00000300591:exon4:c.G181C:p.D61H;ENSG00000167210:ENST00000536111:exon2:c.G220C:p.D74H;ENSG00000167210:ENST00000536736:exon22:c.G3514C:p.D1172H;ENSG00000167210:ENST00000441893:exon3:c.G313C:p.D105H;ENSG00000167210:ENST00000398722:exon15:c.G2680C:p.D894H;ENSG00000167210:ENST00000582408:exon3:c.G181C:p.D61H;	0.999904101605635	0.938
18	44126858	C	T	18	46546895	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.G3514A:p.D1172N;LOXHD1:NM_001145472:exon4:c.G181A:p.D61N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.G2896A:p.D966N;ENSG00000167210:ENST00000300591:exon4:c.G181A:p.D61N;ENSG00000167210:ENST00000536111:exon2:c.G220A:p.D74N;ENSG00000167210:ENST00000536736:exon22:c.G3514A:p.D1172N;ENSG00000167210:ENST00000441893:exon3:c.G313A:p.D105N;ENSG00000167210:ENST00000398722:exon15:c.G2680A:p.D894N;ENSG00000167210:ENST00000582408:exon3:c.G181A:p.D61N;	0.99991258289309	0.958
18	44126859	T	A	18	46546896	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.A3513T:p.K1171N;LOXHD1:NM_001145472:exon4:c.A180T:p.K60N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.A2895T:p.K965N;ENSG00000167210:ENST00000300591:exon4:c.A180T:p.K60N;ENSG00000167210:ENST00000536111:exon2:c.A219T:p.K73N;ENSG00000167210:ENST00000536736:exon22:c.A3513T:p.K1171N;ENSG00000167210:ENST00000441893:exon3:c.A312T:p.K104N;ENSG00000167210:ENST00000398722:exon15:c.A2679T:p.K893N;ENSG00000167210:ENST00000582408:exon3:c.A180T:p.K60N;	0.998448424437905	0.924
18	44126859	T	C	18	46546896	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon22:c.A3513G:p.K1171K;LOXHD1:NM_001145472:exon4:c.A180G:p.K60K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.A2895G:p.K965K;ENSG00000167210:ENST00000300591:exon4:c.A180G:p.K60K;ENSG00000167210:ENST00000536111:exon2:c.A219G:p.K73K;ENSG00000167210:ENST00000536736:exon22:c.A3513G:p.K1171K;ENSG00000167210:ENST00000441893:exon3:c.A312G:p.K104K;ENSG00000167210:ENST00000398722:exon15:c.A2679G:p.K893K;ENSG00000167210:ENST00000582408:exon3:c.A180G:p.K60K;	0.999745702253031	0.942
18	44126859	T	G	18	46546896	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.A3513C:p.K1171N;LOXHD1:NM_001145472:exon4:c.A180C:p.K60N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.A2895C:p.K965N;ENSG00000167210:ENST00000300591:exon4:c.A180C:p.K60N;ENSG00000167210:ENST00000536111:exon2:c.A219C:p.K73N;ENSG00000167210:ENST00000536736:exon22:c.A3513C:p.K1171N;ENSG00000167210:ENST00000441893:exon3:c.A312C:p.K104N;ENSG00000167210:ENST00000398722:exon15:c.A2679C:p.K893N;ENSG00000167210:ENST00000582408:exon3:c.A180C:p.K60N;	0.999432239953377	0.922
18	44126860	T	A	18	46546897	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.A3512T:p.K1171I;LOXHD1:NM_001145472:exon4:c.A179T:p.K60I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.A2894T:p.K965I;ENSG00000167210:ENST00000300591:exon4:c.A179T:p.K60I;ENSG00000167210:ENST00000536111:exon2:c.A218T:p.K73I;ENSG00000167210:ENST00000536736:exon22:c.A3512T:p.K1171I;ENSG00000167210:ENST00000441893:exon3:c.A311T:p.K104I;ENSG00000167210:ENST00000398722:exon15:c.A2678T:p.K893I;ENSG00000167210:ENST00000582408:exon3:c.A179T:p.K60I;	0.988426509615498	0.712
18	44126860	T	C	18	46546897	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.A3512G:p.K1171R;LOXHD1:NM_001145472:exon4:c.A179G:p.K60R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.A2894G:p.K965R;ENSG00000167210:ENST00000300591:exon4:c.A179G:p.K60R;ENSG00000167210:ENST00000536111:exon2:c.A218G:p.K73R;ENSG00000167210:ENST00000536736:exon22:c.A3512G:p.K1171R;ENSG00000167210:ENST00000441893:exon3:c.A311G:p.K104R;ENSG00000167210:ENST00000398722:exon15:c.A2678G:p.K893R;ENSG00000167210:ENST00000582408:exon3:c.A179G:p.K60R;	0.790548760918272	0.428
18	44126860	T	G	18	46546897	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.A3512C:p.K1171T;LOXHD1:NM_001145472:exon4:c.A179C:p.K60T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.A2894C:p.K965T;ENSG00000167210:ENST00000300591:exon4:c.A179C:p.K60T;ENSG00000167210:ENST00000536111:exon2:c.A218C:p.K73T;ENSG00000167210:ENST00000536736:exon22:c.A3512C:p.K1171T;ENSG00000167210:ENST00000441893:exon3:c.A311C:p.K104T;ENSG00000167210:ENST00000398722:exon15:c.A2678C:p.K893T;ENSG00000167210:ENST00000582408:exon3:c.A179C:p.K60T;	0.134487362143271	0.44
18	44127020	A	C	18	46547057	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.T3352G:p.Y1118D;LOXHD1:NM_001145472:exon4:c.T19G:p.Y7D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.T2734G:p.Y912D;ENSG00000167210:ENST00000300591:exon4:c.T19G:p.Y7D;ENSG00000167210:ENST00000536111:exon2:c.T58G:p.Y20D;ENSG00000167210:ENST00000419859:exon4:c.T19G:p.Y7D;ENSG00000167210:ENST00000536736:exon22:c.T3352G:p.Y1118D;ENSG00000167210:ENST00000441893:exon3:c.T151G:p.Y51D;ENSG00000167210:ENST00000398722:exon15:c.T2518G:p.Y840D;ENSG00000167210:ENST00000582408:exon3:c.T19G:p.Y7D;	0.028715563754251	0.376
18	44127020	A	G	18	46547057	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.T3352C:p.Y1118H;LOXHD1:NM_001145472:exon4:c.T19C:p.Y7H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.T2734C:p.Y912H;ENSG00000167210:ENST00000300591:exon4:c.T19C:p.Y7H;ENSG00000167210:ENST00000536111:exon2:c.T58C:p.Y20H;ENSG00000167210:ENST00000419859:exon4:c.T19C:p.Y7H;ENSG00000167210:ENST00000536736:exon22:c.T3352C:p.Y1118H;ENSG00000167210:ENST00000441893:exon3:c.T151C:p.Y51H;ENSG00000167210:ENST00000398722:exon15:c.T2518C:p.Y840H;ENSG00000167210:ENST00000582408:exon3:c.T19C:p.Y7H;	0.0335602079508187	0.384
18	44127020	A	T	18	46547057	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon22:c.T3352A:p.Y1118N;LOXHD1:NM_001145472:exon4:c.T19A:p.Y7N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.T2734A:p.Y912N;ENSG00000167210:ENST00000300591:exon4:c.T19A:p.Y7N;ENSG00000167210:ENST00000536111:exon2:c.T58A:p.Y20N;ENSG00000167210:ENST00000419859:exon4:c.T19A:p.Y7N;ENSG00000167210:ENST00000536736:exon22:c.T3352A:p.Y1118N;ENSG00000167210:ENST00000441893:exon3:c.T151A:p.Y51N;ENSG00000167210:ENST00000398722:exon15:c.T2518A:p.Y840N;ENSG00000167210:ENST00000582408:exon3:c.T19A:p.Y7N;	0.0215369468095983	0.406
18	44127021	C	A	18	46547058	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon22:c.G3351T:p.T1117T;LOXHD1:NM_001145472:exon4:c.G18T:p.T6T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.G2733T:p.T911T;ENSG00000167210:ENST00000300591:exon4:c.G18T:p.T6T;ENSG00000167210:ENST00000536111:exon2:c.G57T:p.G19G;ENSG00000167210:ENST00000419859:exon4:c.G18T:p.T6T;ENSG00000167210:ENST00000536736:exon22:c.G3351T:p.T1117T;ENSG00000167210:ENST00000441893:exon3:c.G150T:p.T50T;ENSG00000167210:ENST00000398722:exon15:c.G2517T:p.T839T;ENSG00000167210:ENST00000582408:exon3:c.G18T:p.T6T;	0.979627360407016	0.91
18	44127021	C	G	18	46547058	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon22:c.G3351C:p.T1117T;LOXHD1:NM_001145472:exon4:c.G18C:p.T6T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.G2733C:p.T911T;ENSG00000167210:ENST00000300591:exon4:c.G18C:p.T6T;ENSG00000167210:ENST00000536111:exon2:c.G57C:p.G19G;ENSG00000167210:ENST00000419859:exon4:c.G18C:p.T6T;ENSG00000167210:ENST00000536736:exon22:c.G3351C:p.T1117T;ENSG00000167210:ENST00000441893:exon3:c.G150C:p.T50T;ENSG00000167210:ENST00000398722:exon15:c.G2517C:p.T839T;ENSG00000167210:ENST00000582408:exon3:c.G18C:p.T6T;	0.974411885022724	0.822
18	44127021	C	T	18	46547058	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon22:c.G3351A:p.T1117T;LOXHD1:NM_001145472:exon4:c.G18A:p.T6T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon20:c.G2733A:p.T911T;ENSG00000167210:ENST00000300591:exon4:c.G18A:p.T6T;ENSG00000167210:ENST00000536111:exon2:c.G57A:p.G19G;ENSG00000167210:ENST00000419859:exon4:c.G18A:p.T6T;ENSG00000167210:ENST00000536736:exon22:c.G3351A:p.T1117T;ENSG00000167210:ENST00000441893:exon3:c.G150A:p.T50T;ENSG00000167210:ENST00000398722:exon15:c.G2517A:p.T839T;ENSG00000167210:ENST00000582408:exon3:c.G18A:p.T6T;	0.561044934602221	0.522
18	44127022	C	A	18	46547059	y	y	splicing	LOXHD1(NM_001145472:exon5:c.18-1G>T;NM_144612:exon23:c.3351-1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.18-1G>T;ENST00000398722:exon16:c.2517-1G>T;ENST00000441893:exon4:c.150-1G>T;ENST00000536736:exon23:c.3351-1G>T;ENST00000582408:exon4:c.18-1G>T;ENST00000441551:exon21:c.2733-1G>T;ENST00000536111:exon3:c.57-1G>T;ENST00000419859:exon5:c.18-1G>T)	.	.	0.999986675681007	0.936
18	44127022	C	G	18	46547059	y	y	splicing	LOXHD1(NM_001145472:exon5:c.18-1G>C;NM_144612:exon23:c.3351-1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.18-1G>C;ENST00000398722:exon16:c.2517-1G>C;ENST00000441893:exon4:c.150-1G>C;ENST00000536736:exon23:c.3351-1G>C;ENST00000582408:exon4:c.18-1G>C;ENST00000441551:exon21:c.2733-1G>C;ENST00000536111:exon3:c.57-1G>C;ENST00000419859:exon5:c.18-1G>C)	.	.	0.999986675681007	0.936
18	44127022	C	T	18	46547059	y	y	splicing	LOXHD1(NM_001145472:exon5:c.18-1G>A;NM_144612:exon23:c.3351-1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.18-1G>A;ENST00000398722:exon16:c.2517-1G>A;ENST00000441893:exon4:c.150-1G>A;ENST00000536736:exon23:c.3351-1G>A;ENST00000582408:exon4:c.18-1G>A;ENST00000441551:exon21:c.2733-1G>A;ENST00000536111:exon3:c.57-1G>A;ENST00000419859:exon5:c.18-1G>A)	.	.	0.999986675681007	0.936
18	44127023	T	A	18	46547060	y	y	splicing	LOXHD1(NM_001145472:exon5:c.18-2A>T;NM_144612:exon23:c.3351-2A>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.18-2A>T;ENST00000398722:exon16:c.2517-2A>T;ENST00000441893:exon4:c.150-2A>T;ENST00000536736:exon23:c.3351-2A>T;ENST00000582408:exon4:c.18-2A>T;ENST00000441551:exon21:c.2733-2A>T;ENST00000536111:exon3:c.57-2A>T;ENST00000419859:exon5:c.18-2A>T)	.	.	0.999990155693597	0.926
18	44127023	T	C	18	46547060	y	y	splicing	LOXHD1(NM_001145472:exon5:c.18-2A>G;NM_144612:exon23:c.3351-2A>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.18-2A>G;ENST00000398722:exon16:c.2517-2A>G;ENST00000441893:exon4:c.150-2A>G;ENST00000536736:exon23:c.3351-2A>G;ENST00000582408:exon4:c.18-2A>G;ENST00000441551:exon21:c.2733-2A>G;ENST00000536111:exon3:c.57-2A>G;ENST00000419859:exon5:c.18-2A>G)	.	.	0.999990155693597	0.926
18	44127023	T	G	18	46547060	y	y	splicing	LOXHD1(NM_001145472:exon5:c.18-2A>C;NM_144612:exon23:c.3351-2A>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon5:c.18-2A>C;ENST00000398722:exon16:c.2517-2A>C;ENST00000441893:exon4:c.150-2A>C;ENST00000536736:exon23:c.3351-2A>C;ENST00000582408:exon4:c.18-2A>C;ENST00000441551:exon21:c.2733-2A>C;ENST00000536111:exon3:c.57-2A>C;ENST00000419859:exon5:c.18-2A>C)	.	.	0.999990155693597	0.926
18	44127024	G	A	18	46547061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0404183066083404	0.254
18	44127024	G	C	18	46547061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999594983387102	0.94
18	44127024	G	T	18	46547061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.864387301231095	0.738
18	44127025	T	A	18	46547062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.47174424337174E-5	0.0
18	44127025	T	C	18	46547062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.38244607855305E-5	0.0
18	44127025	T	G	18	46547062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.65642068422748E-5	0.002
18	44127026	G	A	18	46547063	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.74298903394154E-5	0.01
18	44127026	G	C	18	46547063	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.27249533664993E-5	0.04
18	44127026	G	T	18	46547063	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.54490566597499E-5	0.022
18	44127027	G	A	18	46547064	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.98512654024405E-5	0.014
18	44127027	G	C	18	46547064	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.96189094030998E-4	0.112
18	44127027	G	T	18	46547064	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.55975939711932E-4	0.082
18	44127028	G	A	18	46547065	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.51520599765955E-5	0.006
18	44127028	G	C	18	46547065	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.01514334585107E-4	0.036
18	44127028	G	T	18	46547065	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.51117421267628E-4	0.04
18	44127029	G	A	18	46547066	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.01213173104432E-5	0.064
18	44127029	G	C	18	46547066	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.61689017391067E-4	0.108
18	44127029	G	T	18	46547066	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.09710152735734E-4	0.094
18	44127030	G	A	18	46547067	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.06194902975875E-5	0.002
18	44127030	G	C	18	46547067	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997457334353961	0.62
18	44127030	G	T	18	46547067	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.17159767365997E-5	0.066
18	44127031	T	A	18	46547068	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.53980235418604E-5	0.0
18	44127031	T	C	18	46547068	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.88184135825749E-5	0.002
18	44127031	T	G	18	46547068	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.57814136992337E-5	0.028
18	44127032	G	A	18	46547069	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.55497495843549E-5	0.0
18	44127032	G	C	18	46547069	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.19325845178345E-5	0.012
18	44127032	G	T	18	46547069	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.35139195936052E-4	0.07
18	44127033	G	A	18	46547070	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.94829719443646E-6	0.0
18	44127033	G	C	18	46547070	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.10940847661675E-4	0.07
18	44127033	G	T	18	46547070	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.00819971628835E-4	0.038
18	44135080	T	A	18	46555117	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.63360899965148E-5	0.006
18	44135080	T	C	18	46555117	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.63360899965148E-5	0.006
18	44135080	T	G	18	46555117	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.63360899965148E-5	0.006
18	44135081	T	A	18	46555118	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.82827935381688E-5	0.002
18	44135081	T	C	18	46555118	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.78205327723092E-5	0.04
18	44135081	T	G	18	46555118	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.78205327723092E-5	0.104
18	44135082	A	C	18	46555119	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.14301101535901E-5	0.002
18	44135082	A	G	18	46555119	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.14301101535901E-5	0.002
18	44135082	A	T	18	46555119	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.14301101535901E-5	0.002
18	44135083	C	A	18	46555120	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.23919149690468E-5	0.008
18	44135083	C	G	18	46555120	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.23919149690468E-5	0.006
18	44135083	C	T	18	46555120	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.41362928020249E-5	0.01
18	44135084	T	A	18	46555121	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.63360899965148E-5	0.006
18	44135084	T	C	18	46555121	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.63360899965148E-5	0.014
18	44135084	T	G	18	46555121	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.63360899965148E-5	0.006
18	44135085	A	C	18	46555122	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.78864525412067E-5	0.0
18	44135085	A	G	18	46555122	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.78864525412067E-5	0.0
18	44135085	A	T	18	46555122	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.08802802279601E-5	0.0
18	44135086	A	C	18	46555123	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon2:c.56+2T>G)	.	.	3.07620641825897E-5	0.0
18	44135086	A	G	18	46555123	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon2:c.56+2T>C)	.	.	3.07620641825897E-5	0.0
18	44135086	A	T	18	46555123	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon2:c.56+2T>A)	.	.	3.31929338280547E-5	0.0
18	44135087	C	A	18	46555124	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon2:c.56+1G>T)	.	.	2.2358802390823E-5	0.0
18	44135087	C	G	18	46555124	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon2:c.56+1G>C)	.	.	2.2358802390823E-5	0.0
18	44135087	C	T	18	46555124	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000536111:exon2:c.56+1G>A)	.	.	2.41256482875619E-5	0.0
18	44135088	C	A	18	46555125	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.G56T:p.G19V;	1.38417910986116E-4	0.0
18	44135088	C	G	18	46555125	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.G56C:p.G19A;	1.97495751519987E-5	0.0
18	44135088	C	T	18	46555125	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.G56A:p.G19E;	6.90040170267435E-5	0.0
18	44135089	C	A	18	46555126	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.G55T:p.G19W;	1.66102547158473E-4	0.024
18	44135089	C	G	18	46555126	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.G55C:p.G19R;	2.00461865980344E-4	0.026
18	44135089	C	T	18	46555126	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.G55A:p.G19R;	3.64300150166233E-4	0.024
18	44135090	T	A	18	46555127	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.A54T:p.S18S;	5.15941453541388E-5	0.002
18	44135090	T	C	18	46555127	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.A54G:p.S18S;	5.15941453541388E-5	0.002
18	44135090	T	G	18	46555127	n	y	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536111:exon1:c.A54C:p.S18S;	5.15941453541388E-5	0.002
18	44136645	A	C	18	46556682	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.76502774581184E-5	0.0
18	44136645	A	G	18	46556682	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.76502774581184E-5	0.0
18	44136645	A	T	18	46556682	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.76502774581184E-5	0.0
18	44136646	C	A	18	46556683	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136646	C	G	18	46556683	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136646	C	T	18	46556683	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136647	C	A	18	46556684	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.15358342454107E-5	0.014
18	44136647	C	G	18	46556684	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.15358342454107E-5	0.014
18	44136647	C	T	18	46556684	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.32651317629065E-5	0.032
18	44136648	C	A	18	46556685	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136648	C	G	18	46556685	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136648	C	T	18	46556685	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136649	T	A	18	46556686	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.14301101535901E-5	0.0
18	44136649	T	C	18	46556686	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.68219155180855E-5	0.0
18	44136649	T	G	18	46556686	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.68219155180855E-5	0.0
18	44136650	C	A	18	46556687	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136650	C	G	18	46556687	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136650	C	T	18	46556687	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.2694790039333E-6	0.0
18	44136651	A	C	18	46556688	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.60742385600787E-5	0.008
18	44136651	A	G	18	46556688	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.60742385600787E-5	0.008
18	44136651	A	T	18	46556688	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	6.18905158676629E-5	0.016
18	44136652	C	A	18	46556689	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.15358342454107E-5	0.014
18	44136652	C	G	18	46556689	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	2.15358342454107E-5	0.014
18	44136652	C	T	18	46556689	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	3.32651317629065E-5	0.032
18	44136653	C	A	18	46556690	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.67406935090243E-5	0.0
18	44136653	C	G	18	46556690	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.67406935090243E-5	0.0
18	44136653	C	T	18	46556690	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.80635910608335E-5	0.0
18	44136654	C	A	18	46556691	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.00286289604843E-5	0.0
18	44136654	C	G	18	46556691	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.00286289604843E-5	0.0
18	44136654	C	T	18	46556691	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.00286289604843E-5	0.0
18	44136655	T	A	18	46556692	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.05445532117032E-5	0.014
18	44136655	T	C	18	46556692	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	4.43601530502877E-5	0.008
18	44136655	T	G	18	46556692	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	4.43601530502877E-5	0.008
18	44137311	A	C	18	46557348	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.44499455056397E-5	0.0
18	44137311	A	G	18	46557348	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.46127220216744E-5	0.0
18	44137311	A	T	18	46557348	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.44499455056397E-5	0.0
18	44137312	C	A	18	46557349	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.45074596486944E-4	0.004
18	44137312	C	G	18	46557349	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00325740311818285	0.006
18	44137312	C	T	18	46557349	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00328654404913969	0.01
18	44137313	A	C	18	46557350	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.984977116991412	0.802
18	44137313	A	G	18	46557350	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.948331204206167	0.748
18	44137313	A	T	18	46557350	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994058224837377	0.86
18	44137314	C	A	18	46557351	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999972255323498	0.952
18	44137314	C	G	18	46557351	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999930051798743	0.99
18	44137314	C	T	18	46557351	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999944254835778	0.994
18	44137315	T	A	18	46557352	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999042520608664	0.906
18	44137315	T	C	18	46557352	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998239833808801	0.98
18	44137315	T	G	18	46557352	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998050801059445	0.838
18	44137316	C	A	18	46557353	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999694104304209	0.738
18	44137316	C	G	18	46557353	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997087705172542	0.866
18	44137316	C	T	18	46557353	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00198295166075172	0.006
18	44137317	A	C	18	46557354	y	y	splicing	LOXHD1(NM_001145472:exon4:c.17+2T>G;NM_144612:exon22:c.3350+2T>G)	.	.	splicing	ENSG00000167210(ENST00000300591:exon4:c.17+2T>G;ENST00000398722:exon15:c.2516+2T>G;ENST00000441893:exon3:c.149+2T>G;ENST00000536736:exon22:c.3350+2T>G;ENST00000582408:exon3:c.17+2T>G;ENST00000441551:exon20:c.2732+2T>G;ENST00000419859:exon4:c.17+2T>G)	.	.	0.999993519952936	0.926
18	44137317	A	G	18	46557354	y	y	splicing	LOXHD1(NM_001145472:exon4:c.17+2T>C;NM_144612:exon22:c.3350+2T>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon4:c.17+2T>C;ENST00000398722:exon15:c.2516+2T>C;ENST00000441893:exon3:c.149+2T>C;ENST00000536736:exon22:c.3350+2T>C;ENST00000582408:exon3:c.17+2T>C;ENST00000441551:exon20:c.2732+2T>C;ENST00000419859:exon4:c.17+2T>C)	.	.	0.999958563240378	0.866
18	44137317	A	T	18	46557354	y	y	splicing	LOXHD1(NM_001145472:exon4:c.17+2T>A;NM_144612:exon22:c.3350+2T>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon4:c.17+2T>A;ENST00000398722:exon15:c.2516+2T>A;ENST00000441893:exon3:c.149+2T>A;ENST00000536736:exon22:c.3350+2T>A;ENST00000582408:exon3:c.17+2T>A;ENST00000441551:exon20:c.2732+2T>A;ENST00000419859:exon4:c.17+2T>A)	.	.	0.999993519952936	0.926
18	44137318	C	A	18	46557355	y	y	splicing	LOXHD1(NM_001145472:exon4:c.17+1G>T;NM_144612:exon22:c.3350+1G>T)	.	.	splicing	ENSG00000167210(ENST00000300591:exon4:c.17+1G>T;ENST00000398722:exon15:c.2516+1G>T;ENST00000441893:exon3:c.149+1G>T;ENST00000536736:exon22:c.3350+1G>T;ENST00000582408:exon3:c.17+1G>T;ENST00000441551:exon20:c.2732+1G>T;ENST00000419859:exon4:c.17+1G>T)	.	.	0.999988247793601	0.928
18	44137318	C	G	18	46557355	y	y	splicing	LOXHD1(NM_001145472:exon4:c.17+1G>C;NM_144612:exon22:c.3350+1G>C)	.	.	splicing	ENSG00000167210(ENST00000300591:exon4:c.17+1G>C;ENST00000398722:exon15:c.2516+1G>C;ENST00000441893:exon3:c.149+1G>C;ENST00000536736:exon22:c.3350+1G>C;ENST00000582408:exon3:c.17+1G>C;ENST00000441551:exon20:c.2732+1G>C;ENST00000419859:exon4:c.17+1G>C)	.	.	0.999988247793601	0.928
18	44137318	C	T	18	46557355	y	y	splicing	LOXHD1(NM_001145472:exon4:c.17+1G>A;NM_144612:exon22:c.3350+1G>A)	.	.	splicing	ENSG00000167210(ENST00000300591:exon4:c.17+1G>A;ENST00000398722:exon15:c.2516+1G>A;ENST00000441893:exon3:c.149+1G>A;ENST00000536736:exon22:c.3350+1G>A;ENST00000582408:exon3:c.17+1G>A;ENST00000441551:exon20:c.2732+1G>A;ENST00000419859:exon4:c.17+1G>A)	.	.	0.999988247793601	0.928
18	44137319	G	A	18	46557356	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.C3350T:p.T1117M;LOXHD1:NM_001145472:exon3:c.C17T:p.T6M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2732T:p.T911M;ENSG00000167210:ENST00000300591:exon3:c.C17T:p.T6M;ENSG00000167210:ENST00000419859:exon3:c.C17T:p.T6M;ENSG00000167210:ENST00000536736:exon21:c.C3350T:p.T1117M;ENSG00000167210:ENST00000441893:exon2:c.C149T:p.T50M;ENSG00000167210:ENST00000398722:exon14:c.C2516T:p.T839M;ENSG00000167210:ENST00000582408:exon2:c.C17T:p.T6M;	0.00452037714033774	0.08
18	44137319	G	C	18	46557356	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.C3350G:p.T1117R;LOXHD1:NM_001145472:exon3:c.C17G:p.T6R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2732G:p.T911R;ENSG00000167210:ENST00000300591:exon3:c.C17G:p.T6R;ENSG00000167210:ENST00000419859:exon3:c.C17G:p.T6R;ENSG00000167210:ENST00000536736:exon21:c.C3350G:p.T1117R;ENSG00000167210:ENST00000441893:exon2:c.C149G:p.T50R;ENSG00000167210:ENST00000398722:exon14:c.C2516G:p.T839R;ENSG00000167210:ENST00000582408:exon2:c.C17G:p.T6R;	1.54149921958082E-4	0.178
18	44137319	G	T	18	46557356	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.C3350A:p.T1117K;LOXHD1:NM_001145472:exon3:c.C17A:p.T6K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2732A:p.T911K;ENSG00000167210:ENST00000300591:exon3:c.C17A:p.T6K;ENSG00000167210:ENST00000419859:exon3:c.C17A:p.T6K;ENSG00000167210:ENST00000536736:exon21:c.C3350A:p.T1117K;ENSG00000167210:ENST00000441893:exon2:c.C149A:p.T50K;ENSG00000167210:ENST00000398722:exon14:c.C2516A:p.T839K;ENSG00000167210:ENST00000582408:exon2:c.C17A:p.T6K;	5.25381511560452E-4	0.014
18	44137320	T	A	18	46557357	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.A3349T:p.T1117S;LOXHD1:NM_001145472:exon3:c.A16T:p.T6S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.A2731T:p.T911S;ENSG00000167210:ENST00000300591:exon3:c.A16T:p.T6S;ENSG00000167210:ENST00000419859:exon3:c.A16T:p.T6S;ENSG00000167210:ENST00000536736:exon21:c.A3349T:p.T1117S;ENSG00000167210:ENST00000441893:exon2:c.A148T:p.T50S;ENSG00000167210:ENST00000398722:exon14:c.A2515T:p.T839S;ENSG00000167210:ENST00000582408:exon2:c.A16T:p.T6S;	0.998436618864366	0.938
18	44137320	T	C	18	46557357	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.A3349G:p.T1117A;LOXHD1:NM_001145472:exon3:c.A16G:p.T6A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.A2731G:p.T911A;ENSG00000167210:ENST00000300591:exon3:c.A16G:p.T6A;ENSG00000167210:ENST00000419859:exon3:c.A16G:p.T6A;ENSG00000167210:ENST00000536736:exon21:c.A3349G:p.T1117A;ENSG00000167210:ENST00000441893:exon2:c.A148G:p.T50A;ENSG00000167210:ENST00000398722:exon14:c.A2515G:p.T839A;ENSG00000167210:ENST00000582408:exon2:c.A16G:p.T6A;	0.998879717243844	0.964
18	44137320	T	G	18	46557357	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.A3349C:p.T1117P;LOXHD1:NM_001145472:exon3:c.A16C:p.T6P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.A2731C:p.T911P;ENSG00000167210:ENST00000300591:exon3:c.A16C:p.T6P;ENSG00000167210:ENST00000419859:exon3:c.A16C:p.T6P;ENSG00000167210:ENST00000536736:exon21:c.A3349C:p.T1117P;ENSG00000167210:ENST00000441893:exon2:c.A148C:p.T50P;ENSG00000167210:ENST00000398722:exon14:c.A2515C:p.T839P;ENSG00000167210:ENST00000582408:exon2:c.A16C:p.T6P;	0.99582122613606	0.954
18	44137321	G	A	18	46557358	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon21:c.C3348T:p.I1116I;LOXHD1:NM_001145472:exon3:c.C15T:p.I5I;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2730T:p.I910I;ENSG00000167210:ENST00000300591:exon3:c.C15T:p.I5I;ENSG00000167210:ENST00000419859:exon3:c.C15T:p.I5I;ENSG00000167210:ENST00000536736:exon21:c.C3348T:p.I1116I;ENSG00000167210:ENST00000441893:exon2:c.C147T:p.I49I;ENSG00000167210:ENST00000398722:exon14:c.C2514T:p.I838I;ENSG00000167210:ENST00000582408:exon2:c.C15T:p.I5I;	0.991367348313348	0.742
18	44137321	G	C	18	46557358	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.C3348G:p.I1116M;LOXHD1:NM_001145472:exon3:c.C15G:p.I5M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2730G:p.I910M;ENSG00000167210:ENST00000300591:exon3:c.C15G:p.I5M;ENSG00000167210:ENST00000419859:exon3:c.C15G:p.I5M;ENSG00000167210:ENST00000536736:exon21:c.C3348G:p.I1116M;ENSG00000167210:ENST00000441893:exon2:c.C147G:p.I49M;ENSG00000167210:ENST00000398722:exon14:c.C2514G:p.I838M;ENSG00000167210:ENST00000582408:exon2:c.C15G:p.I5M;	0.7991292461516	0.43
18	44137321	G	T	18	46557358	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon21:c.C3348A:p.I1116I;LOXHD1:NM_001145472:exon3:c.C15A:p.I5I;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2730A:p.I910I;ENSG00000167210:ENST00000300591:exon3:c.C15A:p.I5I;ENSG00000167210:ENST00000419859:exon3:c.C15A:p.I5I;ENSG00000167210:ENST00000536736:exon21:c.C3348A:p.I1116I;ENSG00000167210:ENST00000441893:exon2:c.C147A:p.I49I;ENSG00000167210:ENST00000398722:exon14:c.C2514A:p.I838I;ENSG00000167210:ENST00000582408:exon2:c.C15A:p.I5I;	0.807602355921398	0.536
18	44137451	G	A	18	46557488	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.C3218T:p.T1073I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2600T:p.T867I;ENSG00000167210:ENST00000536736:exon21:c.C3218T:p.T1073I;ENSG00000167210:ENST00000441893:exon2:c.C17T:p.T6I;ENSG00000167210:ENST00000398722:exon14:c.C2384T:p.T795I;	0.00493709139684348	0.018
18	44137451	G	C	18	46557488	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.C3218G:p.T1073R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2600G:p.T867R;ENSG00000167210:ENST00000536736:exon21:c.C3218G:p.T1073R;ENSG00000167210:ENST00000441893:exon2:c.C17G:p.T6R;ENSG00000167210:ENST00000398722:exon14:c.C2384G:p.T795R;	0.00341306437754891	0.04
18	44137451	G	T	18	46557488	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.C3218A:p.T1073K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.C2600A:p.T867K;ENSG00000167210:ENST00000536736:exon21:c.C3218A:p.T1073K;ENSG00000167210:ENST00000441893:exon2:c.C17A:p.T6K;ENSG00000167210:ENST00000398722:exon14:c.C2384A:p.T795K;	0.0577182184282414	0.184
18	44137452	T	A	18	46557489	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.A3217T:p.T1073S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.A2599T:p.T867S;ENSG00000167210:ENST00000536736:exon21:c.A3217T:p.T1073S;ENSG00000167210:ENST00000441893:exon2:c.A16T:p.T6S;ENSG00000167210:ENST00000398722:exon14:c.A2383T:p.T795S;	0.0437038651196006	0.226
18	44137452	T	C	18	46557489	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.A3217G:p.T1073A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.A2599G:p.T867A;ENSG00000167210:ENST00000536736:exon21:c.A3217G:p.T1073A;ENSG00000167210:ENST00000441893:exon2:c.A16G:p.T6A;ENSG00000167210:ENST00000398722:exon14:c.A2383G:p.T795A;	0.00197292856040155	0.026
18	44137452	T	G	18	46557489	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon21:c.A3217C:p.T1073P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon19:c.A2599C:p.T867P;ENSG00000167210:ENST00000536736:exon21:c.A3217C:p.T1073P;ENSG00000167210:ENST00000441893:exon2:c.A16C:p.T6P;ENSG00000167210:ENST00000398722:exon14:c.A2383C:p.T795P;	0.0382925757358985	0.238
18	44137453	C	A	18	46557490	y	y	splicing	LOXHD1(NM_144612:exon22:c.3217-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon15:c.2383-1G>T;ENST00000441893:exon3:c.16-1G>T;ENST00000536736:exon22:c.3217-1G>T;ENST00000441551:exon20:c.2599-1G>T)	.	.	0.999988247793601	0.946
18	44137453	C	G	18	46557490	y	y	splicing	LOXHD1(NM_144612:exon22:c.3217-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon15:c.2383-1G>C;ENST00000441893:exon3:c.16-1G>C;ENST00000536736:exon22:c.3217-1G>C;ENST00000441551:exon20:c.2599-1G>C)	.	.	0.999988247793601	0.946
18	44137453	C	T	18	46557490	y	y	splicing	LOXHD1(NM_144612:exon22:c.3217-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon15:c.2383-1G>A;ENST00000441893:exon3:c.16-1G>A;ENST00000536736:exon22:c.3217-1G>A;ENST00000441551:exon20:c.2599-1G>A)	.	.	0.999988247793601	0.946
18	44137454	T	A	18	46557491	y	y	splicing	LOXHD1(NM_144612:exon22:c.3217-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon15:c.2383-2A>T;ENST00000441893:exon3:c.16-2A>T;ENST00000536736:exon22:c.3217-2A>T;ENST00000441551:exon20:c.2599-2A>T)	.	.	0.999993519952936	0.938
18	44137454	T	C	18	46557491	y	y	splicing	LOXHD1(NM_144612:exon22:c.3217-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon15:c.2383-2A>G;ENST00000441893:exon3:c.16-2A>G;ENST00000536736:exon22:c.3217-2A>G;ENST00000441551:exon20:c.2599-2A>G)	.	.	0.999993519952936	0.938
18	44137454	T	G	18	46557491	y	y	splicing	LOXHD1(NM_144612:exon22:c.3217-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon15:c.2383-2A>C;ENST00000441893:exon3:c.16-2A>C;ENST00000536736:exon22:c.3217-2A>C;ENST00000441551:exon20:c.2599-2A>C)	.	.	0.999993519952936	0.938
18	44137455	G	A	18	46557492	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.55596826537642E-4	0.1
18	44137455	G	C	18	46557492	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999886717473736	0.866
18	44137455	G	T	18	46557492	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.941504952042472	0.772
18	44137456	G	A	18	46557493	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.03519777767113E-5	0.0
18	44137456	G	C	18	46557493	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.26825739530027E-5	0.012
18	44137456	G	T	18	46557493	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.03519777767113E-5	0.0
18	44137457	G	A	18	46557494	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.94180138380596E-5	0.0
18	44137457	G	C	18	46557494	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00145991885953564	0.114
18	44137457	G	T	18	46557494	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.3959891821031E-4	0.058
18	44137458	A	C	18	46557495	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.185616976908614	0.38
18	44137458	A	G	18	46557495	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.3935975544988E-4	0.058
18	44137458	A	T	18	46557495	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.077736444985971	0.378
18	44137459	A	C	18	46557496	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0889981433790086	0.278
18	44137459	A	G	18	46557496	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.98413635027924E-4	0.122
18	44137459	A	T	18	46557496	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0874583349351587	0.284
18	44137460	G	A	18	46557497	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.40646508086473E-4	0.004
18	44137460	G	C	18	46557497	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00272253029628335	0.152
18	44137460	G	T	18	46557497	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0136225943207307	0.172
18	44137461	G	A	18	46557498	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.33209438050801E-5	0.0
18	44137461	G	C	18	46557498	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00571171798559453	0.144
18	44137461	G	T	18	46557498	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0123857911672952	0.092
18	44137462	G	A	18	46557499	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.64689788102867E-5	0.0
18	44137462	G	C	18	46557499	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00111271706599232	0.064
18	44137462	G	T	18	46557499	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0062038292143643	0.134
18	44137463	C	A	18	46557500	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.55668378758265E-5	0.028
18	44137463	C	G	18	46557500	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.14334094140964E-5	0.002
18	44137463	C	T	18	46557500	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.17361032727769E-5	0.018
18	44137464	C	A	18	46557501	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00123502732949161	0.02
18	44137464	C	G	18	46557501	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00325103947395191	0.004
18	44137464	C	T	18	46557501	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999766223095904	0.97
18	44137857	T	A	18	46557894	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.05567792764038E-5	0.002
18	44137857	T	C	18	46557894	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.05567792764038E-5	0.004
18	44137857	T	G	18	46557894	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.05567792764038E-5	0.004
18	44137858	T	A	18	46557895	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.05567792764038E-5	0.002
18	44137858	T	C	18	46557895	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.05567792764038E-5	0.014
18	44137858	T	G	18	46557895	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.05567792764038E-5	0.012
18	44137859	A	C	18	46557896	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.42206730061288E-5	0.0
18	44137859	A	G	18	46557896	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.42206730061288E-5	0.0
18	44137859	A	T	18	46557896	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.42206730061288E-5	0.0
18	44137860	A	C	18	46557897	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.42206730061288E-5	0.0
18	44137860	A	G	18	46557897	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.42206730061288E-5	0.0
18	44137860	A	T	18	46557897	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.42206730061288E-5	0.0
18	44137861	G	A	18	46557898	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.04701645548368E-5	0.008
18	44137861	G	C	18	46557898	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.55183766894313E-5	0.004
18	44137861	G	T	18	46557898	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.55183766894313E-5	0.008
18	44137862	T	A	18	46557899	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.11203329754734E-5	0.004
18	44137862	T	C	18	46557899	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.95735775412773E-5	0.0
18	44137862	T	G	18	46557899	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.95735775412773E-5	0.0
18	44137863	A	C	18	46557900	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	3.42206730061288E-5	0.0
18	44137863	A	G	18	46557900	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	3.42206730061288E-5	0.0
18	44137863	A	T	18	46557900	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	6.21978182991299E-5	0.0
18	44137864	C	A	18	46557901	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	5.85455578184536E-5	0.002
18	44137864	C	G	18	46557901	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	5.85455578184536E-5	0.0
18	44137864	C	T	18	46557901	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.06407420733308E-4	0.0
18	44137865	C	A	18	46557902	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.50552619103442E-5	0.006
18	44137865	C	G	18	46557902	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.7733792038743E-5	0.006
18	44137865	C	T	18	46557902	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.50552619103442E-5	0.006
18	44137866	T	A	18	46557903	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	0.00154592920084238	0.01
18	44137866	T	C	18	46557903	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	0.00154592920084238	0.01
18	44137866	T	G	18	46557903	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	0.00154592920084238	0.01
18	44137867	G	A	18	46557904	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.31929338280547E-5	0.004
18	44137867	G	C	18	46557904	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44137867	G	T	18	46557904	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.31929338280547E-5	0.0
18	44138017	A	C	18	46558054	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	4.87872098031522E-5	0.0
18	44138017	A	G	18	46558054	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	4.87872098031522E-5	0.0
18	44138017	A	T	18	46558054	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.26423815498506E-5	0.004
18	44138018	C	A	18	46558055	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.46004206284423E-5	0.0
18	44138018	C	G	18	46558055	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.46004206284423E-5	0.0
18	44138018	C	T	18	46558055	y	y	UTR5	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.46004206284423E-5	0.0
18	44138019	C	A	18	46558056	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.60356957576445E-5	0.0
18	44138019	C	G	18	46558056	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.60356957576445E-5	0.0
18	44138019	C	T	18	46558056	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.60356957576445E-5	0.0
18	44138020	T	A	18	46558057	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.05130521861172E-5	0.002
18	44138020	T	C	18	46558057	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.05130521861172E-5	0.0
18	44138020	T	G	18	46558057	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.05130521861172E-5	0.0
18	44138021	A	C	18	46558058	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.37501361942679E-5	0.008
18	44138021	A	G	18	46558058	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.37501361942679E-5	0.008
18	44138021	A	T	18	46558058	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.48367148474546E-5	0.01
18	44138022	T	A	18	46558059	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.14301101535901E-5	0.0
18	44138022	T	C	18	46558059	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.14301101535901E-5	0.0
18	44138022	T	G	18	46558059	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.14301101535901E-5	0.0
18	44138023	A	C	18	46558060	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.58009765358841E-5	0.008
18	44138023	A	G	18	46558060	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.58009765358841E-5	0.008
18	44138023	A	T	18	46558060	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.75061533442063E-5	0.012
18	44138024	A	C	18	46558061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44138024	A	G	18	46558061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.002
18	44138024	A	T	18	46558061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44138025	G	A	18	46558062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44138025	G	C	18	46558062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.99153316237132E-5	0.0
18	44138025	G	T	18	46558062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44138026	T	A	18	46558063	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44138026	T	C	18	46558063	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44138026	T	G	18	46558063	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.45277156108894E-5	0.0
18	44138027	A	C	18	46558064	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.58927937202005E-5	0.008
18	44138027	A	G	18	46558064	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.58927937202005E-5	0.008
18	44138027	A	T	18	46558064	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.71486889510802E-5	0.006
18	44138028	A	C	18	46558065	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.26718658278921E-5	0.008
18	44138028	A	G	18	46558065	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.26718658278921E-5	0.008
18	44138028	A	T	18	46558065	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.95735775412773E-5	0.008
18	44138029	A	C	18	46558066	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44138029	A	G	18	46558066	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44138029	A	T	18	46558066	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.0
18	44138030	T	A	18	46558067	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07620641825897E-5	0.004
18	44138030	T	C	18	46558067	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.99153316237132E-5	0.0
18	44138030	T	G	18	46558067	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.99153316237132E-5	0.0
18	44139029	A	C	18	46559066	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.70081261255395E-5	0.0
18	44139029	A	G	18	46559066	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.70081261255395E-5	0.0
18	44139029	A	T	18	46559066	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.70081261255395E-5	0.0
18	44139030	T	A	18	46559067	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.67535614375061E-5	0.0
18	44139030	T	C	18	46559067	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.67272766448078E-5	0.0
18	44139030	T	G	18	46559067	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.67272766448078E-5	0.0
18	44139031	A	C	18	46559068	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.552751562108E-5	0.004
18	44139031	A	G	18	46559068	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.552751562108E-5	0.004
18	44139031	A	T	18	46559068	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.90028566392549E-5	0.012
18	44139032	C	A	18	46559069	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.3525528897954E-5	0.0
18	44139032	C	G	18	46559069	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.3525528897954E-5	0.0
18	44139032	C	T	18	46559069	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.3525528897954E-5	0.002
18	44139033	T	A	18	46559070	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0010833263092859	0.01
18	44139033	T	C	18	46559070	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0010833263092859	0.01
18	44139033	T	G	18	46559070	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0010833263092859	0.01
18	44139034	C	A	18	46559071	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.16979026867853E-4	0.022
18	44139034	C	G	18	46559071	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.16979026867853E-4	0.022
18	44139034	C	T	18	46559071	n	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.4403840789577E-4	0.022
18	44139035	A	C	18	46559072	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	9.14971862334513E-5	0.002
18	44139035	A	G	18	46559072	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	9.14971862334513E-5	0.002
18	44139035	A	T	18	46559072	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	9.14971862334513E-5	0.002
18	44139036	C	A	18	46559073	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.46004206284423E-5	0.002
18	44139036	C	G	18	46559073	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.46004206284423E-5	0.002
18	44139036	C	T	18	46559073	n	y	intronic	LOXHD1	.	.	splicing	ENSG00000167210	.	.	1.46004206284423E-5	0.002
18	44139037	C	A	18	46559074	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.24182447672544E-5	0.014
18	44139037	C	G	18	46559074	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.24182447672544E-5	0.014
18	44139037	C	T	18	46559074	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.24182447672544E-5	0.014
18	44139038	T	A	18	46559075	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.62500938860321E-5	0.002
18	44139038	T	C	18	46559075	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	6.90866578596279E-5	0.002
18	44139038	T	G	18	46559075	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	6.90866578596279E-5	0.002
18	44139039	G	A	18	46559076	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.52881759733747E-5	0.0
18	44139039	G	C	18	46559076	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.00675832680685E-4	0.004
18	44139039	G	T	18	46559076	n	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.52881759733747E-5	0.0
18	44139125	A	C	18	46559162	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	6.89925739660516E-5	0.006
18	44139125	A	G	18	46559162	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	6.89925739660516E-5	0.006
18	44139125	A	T	18	46559162	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.15941453541388E-5	0.002
18	44139126	T	A	18	46559163	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.90729588515235E-5	0.002
18	44139126	T	C	18	46559163	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.90729588515235E-5	0.006
18	44139126	T	G	18	46559163	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.90729588515235E-5	0.006
18	44139127	C	A	18	46559164	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.04584891708289E-4	0.094
18	44139127	C	G	18	46559164	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	7.04584891708289E-4	0.06
18	44139127	C	T	18	46559164	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	5.26988358724834E-4	0.05
18	44139128	C	A	18	46559165	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	4.44663886695488E-5	0.01
18	44139128	C	G	18	46559165	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	4.44663886695488E-5	0.006
18	44139128	C	T	18	46559165	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	1.05543952876221E-4	0.016
18	44139129	C	A	18	46559166	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	9.41215694109E-6	0.0
18	44139129	C	G	18	46559166	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	9.41215694109E-6	0.0
18	44139129	C	T	18	46559166	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	9.41215694109E-6	0.0
18	44139130	T	A	18	46559167	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.78205327723092E-5	0.004
18	44139130	T	C	18	46559167	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.31929338280547E-5	0.002
18	44139130	T	G	18	46559167	y	y	intronic	LOXHD1	.	.	UTR5	ENSG00000167210	.	.	3.31929338280547E-5	0.002
18	44139131	A	C	18	46559168	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000441893:exon2:c.15+2T>G)	.	.	2.45277156108894E-5	0.0
18	44139131	A	G	18	46559168	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000441893:exon2:c.15+2T>C)	.	.	2.45277156108894E-5	0.0
18	44139131	A	T	18	46559168	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000441893:exon2:c.15+2T>A)	.	.	2.45277156108894E-5	0.0
18	44139132	C	A	18	46559169	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000441893:exon2:c.15+1G>T)	.	.	5.26988358724834E-4	0.026
18	44139132	C	G	18	46559169	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000441893:exon2:c.15+1G>C)	.	.	5.26988358724834E-4	0.05
18	44139132	C	T	18	46559169	y	y	splicing	LOXHD1	.	.	splicing	ENSG00000167210(ENST00000441893:exon2:c.15+1G>A)	.	.	5.26988358724834E-4	0.028
18	44139133	C	A	18	46559170	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441893:exon1:c.G15T:p.L5F;	5.69439264402225E-5	0.0
18	44139133	C	G	18	46559170	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441893:exon1:c.G15C:p.L5F;	5.69439264402225E-5	0.0
18	44139133	C	T	18	46559170	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441893:exon1:c.G15A:p.L5L;	3.31929338280547E-5	0.004
18	44139134	A	C	18	46559171	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441893:exon1:c.T14G:p.L5W;	9.24310592113184E-5	0.108
18	44139134	A	G	18	46559171	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441893:exon1:c.T14C:p.L5S;	4.90028566392549E-5	0.002
18	44139134	A	T	18	46559171	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441893:exon1:c.T14A:p.L5X;	7.89248934126603E-5	0.082
18	44139135	A	C	18	46559172	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441893:exon1:c.T13G:p.L5V;	6.96737020304725E-5	0.0
18	44139135	A	G	18	46559172	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441893:exon1:c.T13C:p.L5L;	2.6128894829304E-5	0.0
18	44139135	A	T	18	46559172	y	y	UTR5	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441893:exon1:c.T13A:p.L5M;	1.6750723544291E-4	0.0
18	44139403	C	A	18	46559440	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.82677554675831E-4	0.09
18	44139403	C	G	18	46559440	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.59952547299346E-4	0.006
18	44139403	C	T	18	46559440	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.82677554675831E-4	0.094
18	44139404	A	C	18	46559441	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.59139985268799E-4	0.012
18	44139404	A	G	18	46559441	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.63972717569468E-4	0.01
18	44139404	A	T	18	46559441	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.63972717569468E-4	0.036
18	44139405	C	A	18	46559442	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.09341172827363E-4	0.006
18	44139405	C	G	18	46559442	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00350578482668644	0.196
18	44139405	C	T	18	46559442	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00221666236993311	0.092
18	44139406	C	A	18	46559443	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.881949556976904	0.432
18	44139406	C	G	18	46559443	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.403888030036663	0.382
18	44139406	C	T	18	46559443	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.397219906856152	0.37
18	44139407	C	A	18	46559444	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.75998435846765E-4	0.052
18	44139407	C	G	18	46559444	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.18987411821307E-4	0.112
18	44139407	C	T	18	46559444	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.59904577206239E-4	0.064
18	44139408	T	A	18	46559445	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998676377532117	0.968
18	44139408	T	C	18	46559445	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.989940363239826	0.91
18	44139408	T	G	18	46559445	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998139060047397	0.928
18	44139409	A	C	18	46559446	y	y	splicing	LOXHD1(NM_144612:exon21:c.3216+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2382+2T>G;ENST00000536736:exon21:c.3216+2T>G)	.	.	0.999993519952936	0.948
18	44139409	A	G	18	46559446	y	y	splicing	LOXHD1(NM_144612:exon21:c.3216+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2382+2T>C;ENST00000536736:exon21:c.3216+2T>C)	.	.	0.993596150545159	0.602
18	44139409	A	T	18	46559446	y	y	splicing	LOXHD1(NM_144612:exon21:c.3216+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2382+2T>A;ENST00000536736:exon21:c.3216+2T>A)	.	.	0.999993519952936	0.948
18	44139410	C	A	18	46559447	y	y	splicing	LOXHD1(NM_144612:exon21:c.3216+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2382+1G>T;ENST00000536736:exon21:c.3216+1G>T)	.	.	0.999988247793601	0.944
18	44139410	C	G	18	46559447	y	y	splicing	LOXHD1(NM_144612:exon21:c.3216+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2382+1G>C;ENST00000536736:exon21:c.3216+1G>C)	.	.	0.999988247793601	0.944
18	44139410	C	T	18	46559447	y	y	splicing	LOXHD1(NM_144612:exon21:c.3216+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2382+1G>A;ENST00000536736:exon21:c.3216+1G>A)	.	.	0.999988247793601	0.944
18	44139411	C	A	18	46559448	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.G3216T:p.Q1072H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.G3216T:p.Q1072H;ENSG00000167210:ENST00000398722:exon13:c.G2382T:p.Q794H;	0.999984771079699	1.0
18	44139411	C	G	18	46559448	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.G3216C:p.Q1072H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.G3216C:p.Q1072H;ENSG00000167210:ENST00000398722:exon13:c.G2382C:p.Q794H;	0.999996186336632	0.998
18	44139411	C	T	18	46559448	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon20:c.G3216A:p.Q1072Q;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.G3216A:p.Q1072Q;ENSG00000167210:ENST00000398722:exon13:c.G2382A:p.Q794Q;	0.999930098524297	0.988
18	44139412	T	A	18	46559449	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.A3215T:p.Q1072L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.A3215T:p.Q1072L;ENSG00000167210:ENST00000398722:exon13:c.A2381T:p.Q794L;	0.999443394821127	0.956
18	44139412	T	C	18	46559449	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.A3215G:p.Q1072R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.A3215G:p.Q1072R;ENSG00000167210:ENST00000398722:exon13:c.A2381G:p.Q794R;	0.999342026274399	0.96
18	44139412	T	G	18	46559449	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.A3215C:p.Q1072P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.A3215C:p.Q1072P;ENSG00000167210:ENST00000398722:exon13:c.A2381C:p.Q794P;	0.999334221606398	0.91
18	44139413	G	A	18	46559450	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon20:c.C3214T:p.Q1072X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000536736:exon20:c.C3214T:p.Q1072X;ENSG00000167210:ENST00000398722:exon13:c.C2380T:p.Q794X;	0.938772435820797	0.826
18	44139413	G	C	18	46559450	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.C3214G:p.Q1072E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.C3214G:p.Q1072E;ENSG00000167210:ENST00000398722:exon13:c.C2380G:p.Q794E;	0.16641026929991	0.276
18	44139413	G	T	18	46559450	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.C3214A:p.Q1072K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.C3214A:p.Q1072K;ENSG00000167210:ENST00000398722:exon13:c.C2380A:p.Q794K;	0.0361853540919522	0.244
18	44139564	T	A	18	46559601	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon20:c.A3063T:p.R1021R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.A3063T:p.R1021R;ENSG00000167210:ENST00000398722:exon13:c.A2229T:p.R743R;	5.25716830543953E-6	0.0
18	44139564	T	C	18	46559601	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon20:c.A3063G:p.R1021R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.A3063G:p.R1021R;ENSG00000167210:ENST00000398722:exon13:c.A2229G:p.R743R;	1.11987772679518E-5	0.018
18	44139564	T	G	18	46559601	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon20:c.A3063C:p.R1021R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.A3063C:p.R1021R;ENSG00000167210:ENST00000398722:exon13:c.A2229C:p.R743R;	3.8779376627012E-5	0.008
18	44139565	C	A	18	46559602	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.G3062T:p.R1021L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.G3062T:p.R1021L;ENSG00000167210:ENST00000398722:exon13:c.G2228T:p.R743L;	0.418602159582493	0.434
18	44139565	C	G	18	46559602	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.G3062C:p.R1021P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.G3062C:p.R1021P;ENSG00000167210:ENST00000398722:exon13:c.G2228C:p.R743P;	0.0731647184208801	0.332
18	44139565	C	T	18	46559602	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon20:c.G3062A:p.R1021Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon20:c.G3062A:p.R1021Q;ENSG00000167210:ENST00000398722:exon13:c.G2228A:p.R743Q;	0.00236092651506357	0.228
18	44139566	C	A	18	46559603	y	y	splicing	LOXHD1(NM_144612:exon21:c.3062-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2228-1G>T;ENST00000536736:exon21:c.3062-1G>T)	.	.	0.999974839014821	0.868
18	44139566	C	G	18	46559603	y	y	splicing	LOXHD1(NM_144612:exon21:c.3062-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2228-1G>C;ENST00000536736:exon21:c.3062-1G>C)	.	.	0.999974839014821	0.85
18	44139566	C	T	18	46559603	y	y	splicing	LOXHD1(NM_144612:exon21:c.3062-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2228-1G>A;ENST00000536736:exon21:c.3062-1G>A)	.	.	0.999977211667827	0.874
18	44139567	T	A	18	46559604	y	y	splicing	LOXHD1(NM_144612:exon21:c.3062-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2228-2A>T;ENST00000536736:exon21:c.3062-2A>T)	.	.	0.99998382861657	0.862
18	44139567	T	C	18	46559604	y	y	splicing	LOXHD1(NM_144612:exon21:c.3062-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2228-2A>G;ENST00000536736:exon21:c.3062-2A>G)	.	.	0.999980516178445	0.844
18	44139567	T	G	18	46559604	y	y	splicing	LOXHD1(NM_144612:exon21:c.3062-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon14:c.2228-2A>C;ENST00000536736:exon21:c.3062-2A>C)	.	.	0.99998406902479	0.844
18	44139568	G	A	18	46559605	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.27604749193615E-4	0.128
18	44139568	G	C	18	46559605	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999705541450315	0.924
18	44139568	G	T	18	46559605	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.537066353163408	0.608
18	44139569	T	A	18	46559606	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.32326547598644E-5	0.006
18	44139569	T	C	18	46559606	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.28104747599617E-4	0.006
18	44139569	T	G	18	46559606	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.02307217480635E-5	0.002
18	44139570	A	C	18	46559607	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.571194547025237	0.486
18	44139570	A	G	18	46559607	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.65347303151678E-5	0.016
18	44139570	A	T	18	46559607	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.413674614382317	0.528
18	44139571	G	A	18	46559608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.39979487954258E-5	0.004
18	44139571	G	C	18	46559608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00204197912921183	0.212
18	44139571	G	T	18	46559608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.013970140102489	0.22
18	44139572	A	C	18	46559609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.88956652402989	0.45
18	44139572	A	G	18	46559609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.68271627805713E-4	0.056
18	44139572	A	T	18	46559609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.967846626031878	0.65
18	44139573	C	A	18	46559610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.51676253333714E-4	0.026
18	44139573	C	G	18	46559610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.51349310193894E-4	0.006
18	44139573	C	T	18	46559610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.37058123079737E-4	0.048
18	44139574	A	C	18	46559611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.775950541229691	0.572
18	44139574	A	G	18	46559611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00310603325658913	0.154
18	44139574	A	T	18	46559611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999930076808941	0.974
18	44139575	C	A	18	46559612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.02053242191048E-4	0.0
18	44139575	C	G	18	46559612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.1106683599665E-4	0.0
18	44139575	C	T	18	46559612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0005520551262E-4	0.002
18	44139576	A	C	18	46559613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.901611038086922	0.522
18	44139576	A	G	18	46559613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00883073607789866	0.118
18	44139576	A	T	18	46559613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999920895416062	0.974
18	44139577	G	A	18	46559614	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.19119646726303E-5	0.002
18	44139577	G	C	18	46559614	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.94685276013348E-4	0.028
18	44139577	G	T	18	46559614	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.92920417550961E-4	0.026
18	44140038	C	A	18	46560075	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.44454674516076E-5	0.0
18	44140038	C	G	18	46560075	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.44454674516076E-5	0.01
18	44140038	C	T	18	46560075	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.44454674516076E-5	0.0
18	44140039	C	A	18	46560076	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.7342790180476E-5	0.0
18	44140039	C	G	18	46560076	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.15125035961338E-5	0.0
18	44140039	C	T	18	46560076	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.94425454699519E-5	0.0
18	44140040	A	C	18	46560077	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.257158712538182	0.458
18	44140040	A	G	18	46560077	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0858380191482638	0.434
18	44140040	A	T	18	46560077	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.245231732405432	0.386
18	44140041	C	A	18	46560078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999983851158577	0.936
18	44140041	C	G	18	46560078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999995825701257	0.932
18	44140041	C	T	18	46560078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999988860492825	0.954
18	44140042	T	A	18	46560079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996012518004554	0.892
18	44140042	T	C	18	46560079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.985761212158252	0.642
18	44140042	T	G	18	46560079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.889772643478371	0.718
18	44140043	T	A	18	46560080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99986898846675	0.924
18	44140043	T	C	18	46560080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.690615667350167	0.434
18	44140043	T	G	18	46560080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999370410624774	0.758
18	44140044	A	C	18	46560081	y	y	splicing	LOXHD1(NM_144612:exon20:c.3061+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.2227+2T>G;ENST00000536736:exon20:c.3061+2T>G)	.	.	0.999993519952936	0.928
18	44140044	A	G	18	46560081	y	y	splicing	LOXHD1(NM_144612:exon20:c.3061+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.2227+2T>C;ENST00000536736:exon20:c.3061+2T>C)	.	.	0.989490785358834	0.594
18	44140044	A	T	18	46560081	y	y	splicing	LOXHD1(NM_144612:exon20:c.3061+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.2227+2T>A;ENST00000536736:exon20:c.3061+2T>A)	.	.	0.999993519952936	0.928
18	44140045	C	A	18	46560082	y	y	splicing	LOXHD1(NM_144612:exon20:c.3061+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.2227+1G>T;ENST00000536736:exon20:c.3061+1G>T)	.	.	0.999988247793601	0.934
18	44140045	C	G	18	46560082	y	y	splicing	LOXHD1(NM_144612:exon20:c.3061+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.2227+1G>C;ENST00000536736:exon20:c.3061+1G>C)	.	.	0.999988247793601	0.934
18	44140045	C	T	18	46560082	y	y	splicing	LOXHD1(NM_144612:exon20:c.3061+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.2227+1G>A;ENST00000536736:exon20:c.3061+1G>A)	.	.	0.999988247793601	0.934
18	44140046	G	A	18	46560083	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon19:c.C3061T:p.R1021X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000536736:exon19:c.C3061T:p.R1021X;ENSG00000167210:ENST00000398722:exon12:c.C2227T:p.R743X;	0.979229383999596	0.726
18	44140046	G	C	18	46560083	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.C3061G:p.R1021G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.C3061G:p.R1021G;ENSG00000167210:ENST00000398722:exon12:c.C2227G:p.R743G;	0.00475472481597681	0.128
18	44140046	G	T	18	46560083	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon19:c.C3061A:p.R1021R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.C3061A:p.R1021R;ENSG00000167210:ENST00000398722:exon12:c.C2227A:p.R743R;	0.00426381757786225	0.034
18	44140047	C	A	18	46560084	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.G3060T:p.E1020D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.G3060T:p.E1020D;ENSG00000167210:ENST00000398722:exon12:c.G2226T:p.E742D;	0.0032041479988102	0.06
18	44140047	C	G	18	46560084	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.G3060C:p.E1020D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.G3060C:p.E1020D;ENSG00000167210:ENST00000398722:exon12:c.G2226C:p.E742D;	0.00445713530681839	0.044
18	44140047	C	T	18	46560084	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon19:c.G3060A:p.E1020E;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.G3060A:p.E1020E;ENSG00000167210:ENST00000398722:exon12:c.G2226A:p.E742E;	9.98736644093733E-4	0.056
18	44140048	T	A	18	46560085	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.A3059T:p.E1020V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.A3059T:p.E1020V;ENSG00000167210:ENST00000398722:exon12:c.A2225T:p.E742V;	0.878395002024655	0.478
18	44140048	T	C	18	46560085	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.A3059G:p.E1020G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.A3059G:p.E1020G;ENSG00000167210:ENST00000398722:exon12:c.A2225G:p.E742G;	0.124362165695832	0.402
18	44140048	T	G	18	46560085	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.A3059C:p.E1020A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.A3059C:p.E1020A;ENSG00000167210:ENST00000398722:exon12:c.A2225C:p.E742A;	0.609302647483454	0.534
18	44140507	A	C	18	46560544	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.T2600G:p.L867R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.T2600G:p.L867R;ENSG00000167210:ENST00000398722:exon12:c.T1766G:p.L589R;	0.0245947058927752	0.098
18	44140507	A	G	18	46560544	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.T2600C:p.L867P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.T2600C:p.L867P;ENSG00000167210:ENST00000398722:exon12:c.T1766C:p.L589P;	0.0427327078869326	0.128
18	44140507	A	T	18	46560544	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.T2600A:p.L867H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.T2600A:p.L867H;ENSG00000167210:ENST00000398722:exon12:c.T1766A:p.L589H;	0.0741339465888402	0.118
18	44140508	G	A	18	46560545	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.C2599T:p.L867F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.C2599T:p.L867F;ENSG00000167210:ENST00000398722:exon12:c.C1765T:p.L589F;	7.59288098676334E-5	0.144
18	44140508	G	C	18	46560545	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.C2599G:p.L867V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.C2599G:p.L867V;ENSG00000167210:ENST00000398722:exon12:c.C1765G:p.L589V;	3.98554066763948E-5	0.076
18	44140508	G	T	18	46560545	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon19:c.C2599A:p.L867I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000536736:exon19:c.C2599A:p.L867I;ENSG00000167210:ENST00000398722:exon12:c.C1765A:p.L589I;	1.36536609010209E-5	0.012
18	44140509	C	A	18	46560546	y	y	splicing	LOXHD1(NM_144612:exon20:c.2599-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.1765-1G>T;ENST00000536736:exon20:c.2599-1G>T)	.	.	0.999959587842131	0.912
18	44140509	C	G	18	46560546	y	y	splicing	LOXHD1(NM_144612:exon20:c.2599-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.1765-1G>C;ENST00000536736:exon20:c.2599-1G>C)	.	.	0.999959587842131	0.928
18	44140509	C	T	18	46560546	y	y	splicing	LOXHD1(NM_144612:exon20:c.2599-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.1765-1G>A;ENST00000536736:exon20:c.2599-1G>A)	.	.	0.999959587842131	0.912
18	44140510	T	A	18	46560547	y	y	splicing	LOXHD1(NM_144612:exon20:c.2599-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.1765-2A>T;ENST00000536736:exon20:c.2599-2A>T)	.	.	0.999983837559096	0.926
18	44140510	T	C	18	46560547	y	y	splicing	LOXHD1(NM_144612:exon20:c.2599-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.1765-2A>G;ENST00000536736:exon20:c.2599-2A>G)	.	.	0.999983837559096	0.934
18	44140510	T	G	18	46560547	y	y	splicing	LOXHD1(NM_144612:exon20:c.2599-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon13:c.1765-2A>C;ENST00000536736:exon20:c.2599-2A>C)	.	.	0.999983837559096	0.934
18	44140511	G	A	18	46560548	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0185200934510011	0.286
18	44140511	G	C	18	46560548	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999713586286333	0.68
18	44140511	G	T	18	46560548	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.978501479751028	0.834
18	44140512	T	A	18	46560549	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00201556600224199	0.042
18	44140512	T	C	18	46560549	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.970687035185318	0.818
18	44140512	T	G	18	46560549	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00179313295510242	0.04
18	44140513	T	A	18	46560550	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.25656503235395E-5	0.002
18	44140513	T	C	18	46560550	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.27695496159331E-6	0.0
18	44140513	T	G	18	46560550	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.5636198743839E-6	0.002
18	44140514	C	A	18	46560551	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.32536739571095E-5	0.024
18	44140514	C	G	18	46560551	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.32536739571095E-5	0.016
18	44140514	C	T	18	46560551	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.64917341814342E-5	0.064
18	44140515	A	C	18	46560552	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.062278054178168	0.296
18	44140515	A	G	18	46560552	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.91302971154103E-4	0.032
18	44140515	A	T	18	46560552	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999840344384371	0.996
18	44140516	A	C	18	46560553	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00682914170248701	0.266
18	44140516	A	G	18	46560553	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.64803727278825E-4	0.018
18	44140516	A	T	18	46560553	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0122683202291388	0.21
18	44140517	A	C	18	46560554	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0664200265414022	0.42
18	44140517	A	G	18	46560554	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00223853557945728	0.148
18	44140517	A	T	18	46560554	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.323668421556728	0.532
18	44140518	G	A	18	46560555	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.95048459408849E-5	0.0
18	44140518	G	C	18	46560555	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.26495517247642E-4	0.024
18	44140518	G	T	18	46560555	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.17643028157465E-4	0.034
18	44140519	G	A	18	46560556	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.78749928346235E-5	0.054
18	44140519	G	C	18	46560556	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.41844225369965E-4	0.038
18	44140519	G	T	18	46560556	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.77957564319595E-4	0.086
18	44140520	G	A	18	46560557	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.54937460879521E-6	0.0
18	44140520	G	C	18	46560557	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.17146742575604E-4	0.07
18	44140520	G	T	18	46560557	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.15884548206668E-4	0.038
18	44143020	C	A	18	46563057	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.53929084429736E-6	0.0
18	44143020	C	G	18	46563057	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.53929084429736E-6	0.0
18	44143020	C	T	18	46563057	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.53929084429736E-6	0.0
18	44143021	C	A	18	46563058	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00209430218276858	0.05
18	44143021	C	G	18	46563058	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.89429691230655E-4	0.026
18	44143021	C	T	18	46563058	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.89429691230655E-4	0.024
18	44143022	A	C	18	46563059	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00977767058702749	0.172
18	44143022	A	G	18	46563059	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.152744693100018	0.298
18	44143022	A	T	18	46563059	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0169299125043004	0.24
18	44143023	C	A	18	46563060	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.927302148529436	0.648
18	44143023	C	G	18	46563060	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.965640659720389	0.65
18	44143023	C	T	18	46563060	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.804117076471335	0.57
18	44143024	A	C	18	46563061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.69688751435957E-5	0.004
18	44143024	A	G	18	46563061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.7206022504874E-5	0.0
18	44143024	A	T	18	46563061	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.4962171038858E-5	0.028
18	44143025	T	A	18	46563062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.702973461462153	0.484
18	44143025	T	C	18	46563062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0802937539027107	0.4
18	44143025	T	G	18	46563062	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.893916172380733	0.56
18	44143026	A	C	18	46563063	y	y	splicing	LOXHD1(NM_144612:exon19:c.2598+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1764+2T>G;ENST00000536736:exon19:c.2598+2T>G;ENST00000441551:exon19:c.2598+2T>G)	.	.	0.999978278263889	0.944
18	44143026	A	G	18	46563063	y	y	splicing	LOXHD1(NM_144612:exon19:c.2598+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1764+2T>C;ENST00000536736:exon19:c.2598+2T>C;ENST00000441551:exon19:c.2598+2T>C)	.	.	0.962985327454574	0.596
18	44143026	A	T	18	46563063	y	y	splicing	LOXHD1(NM_144612:exon19:c.2598+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1764+2T>A;ENST00000536736:exon19:c.2598+2T>A;ENST00000441551:exon19:c.2598+2T>A)	.	.	0.999978278263889	0.944
18	44143027	C	A	18	46563064	y	y	splicing	LOXHD1(NM_144612:exon19:c.2598+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1764+1G>T;ENST00000536736:exon19:c.2598+1G>T;ENST00000441551:exon19:c.2598+1G>T)	.	.	0.99994568797423	0.932
18	44143027	C	G	18	46563064	y	y	splicing	LOXHD1(NM_144612:exon19:c.2598+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1764+1G>C;ENST00000536736:exon19:c.2598+1G>C;ENST00000441551:exon19:c.2598+1G>C)	.	.	0.99994568797423	0.942
18	44143027	C	T	18	46563064	y	y	splicing	LOXHD1(NM_144612:exon19:c.2598+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1764+1G>A;ENST00000536736:exon19:c.2598+1G>A;ENST00000441551:exon19:c.2598+1G>A)	.	.	0.99994568797423	0.932
18	44143028	C	A	18	46563065	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.G2598T:p.Q866H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.G2598T:p.Q866H;ENSG00000167210:ENST00000536736:exon18:c.G2598T:p.Q866H;ENSG00000167210:ENST00000398722:exon11:c.G1764T:p.Q588H;	0.9988608018037	0.932
18	44143028	C	G	18	46563065	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.G2598C:p.Q866H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.G2598C:p.Q866H;ENSG00000167210:ENST00000536736:exon18:c.G2598C:p.Q866H;ENSG00000167210:ENST00000398722:exon11:c.G1764C:p.Q588H;	0.997566080812995	0.804
18	44143028	C	T	18	46563065	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon18:c.G2598A:p.Q866Q;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.G2598A:p.Q866Q;ENSG00000167210:ENST00000536736:exon18:c.G2598A:p.Q866Q;ENSG00000167210:ENST00000398722:exon11:c.G1764A:p.Q588Q;	0.946160357026788	0.706
18	44143029	T	A	18	46563066	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.A2597T:p.Q866L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.A2597T:p.Q866L;ENSG00000167210:ENST00000536736:exon18:c.A2597T:p.Q866L;ENSG00000167210:ENST00000398722:exon11:c.A1763T:p.Q588L;	0.961464803298753	0.632
18	44143029	T	C	18	46563066	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.A2597G:p.Q866R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.A2597G:p.Q866R;ENSG00000167210:ENST00000536736:exon18:c.A2597G:p.Q866R;ENSG00000167210:ENST00000398722:exon11:c.A1763G:p.Q588R;	0.797601850151841	0.538
18	44143029	T	G	18	46563066	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.A2597C:p.Q866P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.A2597C:p.Q866P;ENSG00000167210:ENST00000536736:exon18:c.A2597C:p.Q866P;ENSG00000167210:ENST00000398722:exon11:c.A1763C:p.Q588P;	0.61775176511037	0.602
18	44143030	G	A	18	46563067	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon18:c.C2596T:p.Q866X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon18:c.C2596T:p.Q866X;ENSG00000167210:ENST00000536736:exon18:c.C2596T:p.Q866X;ENSG00000167210:ENST00000398722:exon11:c.C1762T:p.Q588X;	0.980683415267503	0.754
18	44143030	G	C	18	46563067	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.C2596G:p.Q866E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.C2596G:p.Q866E;ENSG00000167210:ENST00000536736:exon18:c.C2596G:p.Q866E;ENSG00000167210:ENST00000398722:exon11:c.C1762G:p.Q588E;	0.00284263297144187	0.102
18	44143030	G	T	18	46563067	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.C2596A:p.Q866K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.C2596A:p.Q866K;ENSG00000167210:ENST00000536736:exon18:c.C2596A:p.Q866K;ENSG00000167210:ENST00000398722:exon11:c.C1762A:p.Q588K;	0.0059348559708113	0.1
18	44143187	C	A	18	46563224	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.G2439T:p.L813F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.G2439T:p.L813F;ENSG00000167210:ENST00000536736:exon18:c.G2439T:p.L813F;ENSG00000167210:ENST00000398722:exon11:c.G1605T:p.L535F;	6.38302086760669E-4	0.056
18	44143187	C	G	18	46563224	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.G2439C:p.L813F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.G2439C:p.L813F;ENSG00000167210:ENST00000536736:exon18:c.G2439C:p.L813F;ENSG00000167210:ENST00000398722:exon11:c.G1605C:p.L535F;	0.00123898776226753	0.048
18	44143187	C	T	18	46563224	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon18:c.G2439A:p.L813L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.G2439A:p.L813L;ENSG00000167210:ENST00000536736:exon18:c.G2439A:p.L813L;ENSG00000167210:ENST00000398722:exon11:c.G1605A:p.L535L;	0.04162311722086	0.1
18	44143188	A	C	18	46563225	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.T2438G:p.L813W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.T2438G:p.L813W;ENSG00000167210:ENST00000536736:exon18:c.T2438G:p.L813W;ENSG00000167210:ENST00000398722:exon11:c.T1604G:p.L535W;	0.00470412353763216	0.146
18	44143188	A	G	18	46563225	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon18:c.T2438C:p.L813S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon18:c.T2438C:p.L813S;ENSG00000167210:ENST00000536736:exon18:c.T2438C:p.L813S;ENSG00000167210:ENST00000398722:exon11:c.T1604C:p.L535S;	4.56231460827723E-4	0.086
18	44143188	A	T	18	46563225	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon18:c.T2438A:p.L813X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon18:c.T2438A:p.L813X;ENSG00000167210:ENST00000536736:exon18:c.T2438A:p.L813X;ENSG00000167210:ENST00000398722:exon11:c.T1604A:p.L535X;	0.0202359174260019	0.482
18	44143189	C	A	18	46563226	y	y	splicing	LOXHD1(NM_144612:exon19:c.2438-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1604-1G>T;ENST00000536736:exon19:c.2438-1G>T;ENST00000441551:exon19:c.2438-1G>T)	.	.	0.999945054244655	0.886
18	44143189	C	G	18	46563226	y	y	splicing	LOXHD1(NM_144612:exon19:c.2438-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1604-1G>C;ENST00000536736:exon19:c.2438-1G>C;ENST00000441551:exon19:c.2438-1G>C)	.	.	0.999945054244655	0.886
18	44143189	C	T	18	46563226	y	y	splicing	LOXHD1(NM_144612:exon19:c.2438-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1604-1G>A;ENST00000536736:exon19:c.2438-1G>A;ENST00000441551:exon19:c.2438-1G>A)	.	.	0.999945054244655	0.886
18	44143190	T	A	18	46563227	y	y	splicing	LOXHD1(NM_144612:exon19:c.2438-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1604-2A>T;ENST00000536736:exon19:c.2438-2A>T;ENST00000441551:exon19:c.2438-2A>T)	.	.	0.999941215183038	0.892
18	44143190	T	C	18	46563227	y	y	splicing	LOXHD1(NM_144612:exon19:c.2438-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1604-2A>G;ENST00000536736:exon19:c.2438-2A>G;ENST00000441551:exon19:c.2438-2A>G)	.	.	0.999954502641317	0.892
18	44143190	T	G	18	46563227	y	y	splicing	LOXHD1(NM_144612:exon19:c.2438-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon12:c.1604-2A>C;ENST00000536736:exon19:c.2438-2A>C;ENST00000441551:exon19:c.2438-2A>C)	.	.	0.999954502641317	0.892
18	44143191	G	A	18	46563228	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00212614434704093	0.292
18	44143191	G	C	18	46563228	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999593845764797	0.892
18	44143191	G	T	18	46563228	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999003318509996	0.846
18	44143192	G	A	18	46563229	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.61137511850247E-5	0.02
18	44143192	G	C	18	46563229	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.23093000390965E-5	0.028
18	44143192	G	T	18	46563229	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.27670748284844E-5	0.03
18	44143193	G	A	18	46563230	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.16801000471765E-4	0.026
18	44143193	G	C	18	46563230	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999264907114786	0.964
18	44143193	G	T	18	46563230	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00109270703918998	0.212
18	44143194	T	A	18	46563231	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.74869822547991E-5	0.028
18	44143194	T	C	18	46563231	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.86785985293425E-4	0.042
18	44143194	T	G	18	46563231	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.50635538218022E-5	0.042
18	44143195	G	A	18	46563232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0635846178525E-4	0.054
18	44143195	G	C	18	46563232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0571532282322046	0.376
18	44143195	G	T	18	46563232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.103787388315469	0.354
18	44143196	G	A	18	46563233	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.11792437011263E-5	0.014
18	44143196	G	C	18	46563233	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.57940674891576E-4	0.14
18	44143196	G	T	18	46563233	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0201187901735388	0.286
18	44143197	G	A	18	46563234	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00452269111537137	0.164
18	44143197	G	C	18	46563234	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.226554137457645	0.286
18	44143197	G	T	18	46563234	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0811327940811985	0.274
18	44143198	C	A	18	46563235	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0322762054560745	0.218
18	44143198	C	G	18	46563235	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00543599047174357	0.102
18	44143198	C	T	18	46563235	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0854787150670267	0.362
18	44143199	A	C	18	46563236	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998718402014559	0.892
18	44143199	A	G	18	46563236	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.958842059703613	0.686
18	44143199	A	T	18	46563236	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999903913103209	0.944
18	44143200	C	A	18	46563237	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.62921799340565E-4	0.056
18	44143200	C	G	18	46563237	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.9861784772845E-5	0.068
18	44143200	C	T	18	46563237	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.23231152451355E-4	0.022
18	44146212	C	A	18	46566249	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.41626405191871E-4	0.032
18	44146212	C	G	18	46566249	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.65229601441052E-5	0.0
18	44146212	C	T	18	46566249	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.17393196141179E-4	0.026
18	44146213	T	A	18	46566250	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.59283218774036E-4	0.004
18	44146213	T	C	18	46566250	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.70584565636706E-4	0.006
18	44146213	T	G	18	46566250	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.70584565636706E-4	0.006
18	44146214	C	A	18	46566251	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00180500624860428	0.064
18	44146214	C	G	18	46566251	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00228954085960803	0.234
18	44146214	C	T	18	46566251	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0115664010054436	0.096
18	44146215	C	A	18	46566252	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999954462259274	0.958
18	44146215	C	G	18	46566252	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999462764577935	0.954
18	44146215	C	T	18	46566252	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999959832284681	0.998
18	44146216	A	C	18	46566253	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00615736799490439	0.116
18	44146216	A	G	18	46566253	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00107714227951358	0.178
18	44146216	A	T	18	46566253	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00136987907715218	0.066
18	44146217	T	A	18	46566254	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99995538061599	0.97
18	44146217	T	C	18	46566254	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999890384085728	0.928
18	44146217	T	G	18	46566254	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999950416445824	0.978
18	44146218	A	C	18	46566255	y	y	splicing	LOXHD1(NM_144612:exon18:c.2437+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1603+2T>G;ENST00000536736:exon18:c.2437+2T>G;ENST00000441551:exon18:c.2437+2T>G)	.	.	0.999992689121502	0.936
18	44146218	A	G	18	46566255	y	y	splicing	LOXHD1(NM_144612:exon18:c.2437+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1603+2T>C;ENST00000536736:exon18:c.2437+2T>C;ENST00000441551:exon18:c.2437+2T>C)	.	.	0.994221406205437	0.618
18	44146218	A	T	18	46566255	y	y	splicing	LOXHD1(NM_144612:exon18:c.2437+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1603+2T>A;ENST00000536736:exon18:c.2437+2T>A;ENST00000441551:exon18:c.2437+2T>A)	.	.	0.999992689121502	0.936
18	44146219	C	A	18	46566256	y	y	splicing	LOXHD1(NM_144612:exon18:c.2437+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1603+1G>T;ENST00000536736:exon18:c.2437+1G>T;ENST00000441551:exon18:c.2437+1G>T)	.	.	0.999986741007567	0.94
18	44146219	C	G	18	46566256	y	y	splicing	LOXHD1(NM_144612:exon18:c.2437+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1603+1G>C;ENST00000536736:exon18:c.2437+1G>C;ENST00000441551:exon18:c.2437+1G>C)	.	.	0.999986741007567	0.94
18	44146219	C	T	18	46566256	y	y	splicing	LOXHD1(NM_144612:exon18:c.2437+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1603+1G>A;ENST00000536736:exon18:c.2437+1G>A;ENST00000441551:exon18:c.2437+1G>A)	.	.	0.999986741007567	0.94
18	44146220	A	C	18	46566257	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.T2437G:p.L813V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.T2437G:p.L813V;ENSG00000167210:ENST00000536736:exon17:c.T2437G:p.L813V;ENSG00000167210:ENST00000398722:exon10:c.T1603G:p.L535V;	0.00152887976475662	0.072
18	44146220	A	G	18	46566257	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon17:c.T2437C:p.L813L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.T2437C:p.L813L;ENSG00000167210:ENST00000536736:exon17:c.T2437C:p.L813L;ENSG00000167210:ENST00000398722:exon10:c.T1603C:p.L535L;	0.00291053914705253	0.406
18	44146220	A	T	18	46566257	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.T2437A:p.L813M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.T2437A:p.L813M;ENSG00000167210:ENST00000536736:exon17:c.T2437A:p.L813M;ENSG00000167210:ENST00000398722:exon10:c.T1603A:p.L535M;	1.6826326217441E-4	0.014
18	44146221	T	A	18	46566258	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.A2436T:p.K812N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2436T:p.K812N;ENSG00000167210:ENST00000536736:exon17:c.A2436T:p.K812N;ENSG00000167210:ENST00000398722:exon10:c.A1602T:p.K534N;	0.999872519169075	0.93
18	44146221	T	C	18	46566258	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon17:c.A2436G:p.K812K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2436G:p.K812K;ENSG00000167210:ENST00000536736:exon17:c.A2436G:p.K812K;ENSG00000167210:ENST00000398722:exon10:c.A1602G:p.K534K;	0.997890229225523	0.934
18	44146221	T	G	18	46566258	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.A2436C:p.K812N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2436C:p.K812N;ENSG00000167210:ENST00000536736:exon17:c.A2436C:p.K812N;ENSG00000167210:ENST00000398722:exon10:c.A1602C:p.K534N;	0.973372516555136	0.862
18	44146222	T	A	18	46566259	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.A2435T:p.K812I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2435T:p.K812I;ENSG00000167210:ENST00000536736:exon17:c.A2435T:p.K812I;ENSG00000167210:ENST00000398722:exon10:c.A1601T:p.K534I;	0.995773106010102	0.76
18	44146222	T	C	18	46566259	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.A2435G:p.K812R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2435G:p.K812R;ENSG00000167210:ENST00000536736:exon17:c.A2435G:p.K812R;ENSG00000167210:ENST00000398722:exon10:c.A1601G:p.K534R;	0.014200854880274	0.14
18	44146222	T	G	18	46566259	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.A2435C:p.K812T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2435C:p.K812T;ENSG00000167210:ENST00000536736:exon17:c.A2435C:p.K812T;ENSG00000167210:ENST00000398722:exon10:c.A1601C:p.K534T;	0.00606305093409617	0.048
18	44146411	A	C	18	46566448	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.T2246G:p.I749S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.T2246G:p.I749S;ENSG00000167210:ENST00000536736:exon17:c.T2246G:p.I749S;ENSG00000167210:ENST00000398722:exon10:c.T1412G:p.I471S;	0.0471505825914508	0.178
18	44146411	A	G	18	46566448	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.T2246C:p.I749T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.T2246C:p.I749T;ENSG00000167210:ENST00000536736:exon17:c.T2246C:p.I749T;ENSG00000167210:ENST00000398722:exon10:c.T1412C:p.I471T;	0.0256365066611382	0.18
18	44146411	A	T	18	46566448	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.T2246A:p.I749N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.T2246A:p.I749N;ENSG00000167210:ENST00000536736:exon17:c.T2246A:p.I749N;ENSG00000167210:ENST00000398722:exon10:c.T1412A:p.I471N;	0.0643094135097964	0.216
18	44146412	T	A	18	46566449	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.A2245T:p.I749F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2245T:p.I749F;ENSG00000167210:ENST00000536736:exon17:c.A2245T:p.I749F;ENSG00000167210:ENST00000398722:exon10:c.A1411T:p.I471F;	0.0198571568697015	0.128
18	44146412	T	C	18	46566449	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.A2245G:p.I749V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2245G:p.I749V;ENSG00000167210:ENST00000536736:exon17:c.A2245G:p.I749V;ENSG00000167210:ENST00000398722:exon10:c.A1411G:p.I471V;	5.05850857392817E-4	0.002
18	44146412	T	G	18	46566449	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon17:c.A2245C:p.I749L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon17:c.A2245C:p.I749L;ENSG00000167210:ENST00000536736:exon17:c.A2245C:p.I749L;ENSG00000167210:ENST00000398722:exon10:c.A1411C:p.I471L;	0.014622447519497	0.222
18	44146413	C	A	18	46566450	y	y	splicing	LOXHD1(NM_144612:exon18:c.2245-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1411-1G>T;ENST00000536736:exon18:c.2245-1G>T;ENST00000441551:exon18:c.2245-1G>T)	.	.	0.999988247793601	0.932
18	44146413	C	G	18	46566450	y	y	splicing	LOXHD1(NM_144612:exon18:c.2245-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1411-1G>C;ENST00000536736:exon18:c.2245-1G>C;ENST00000441551:exon18:c.2245-1G>C)	.	.	0.999988247793601	0.932
18	44146413	C	T	18	46566450	y	y	splicing	LOXHD1(NM_144612:exon18:c.2245-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1411-1G>A;ENST00000536736:exon18:c.2245-1G>A;ENST00000441551:exon18:c.2245-1G>A)	.	.	0.999988247793601	0.932
18	44146414	T	A	18	46566451	y	y	splicing	LOXHD1(NM_144612:exon18:c.2245-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1411-2A>T;ENST00000536736:exon18:c.2245-2A>T;ENST00000441551:exon18:c.2245-2A>T)	.	.	0.999993519952936	0.928
18	44146414	T	C	18	46566451	y	y	splicing	LOXHD1(NM_144612:exon18:c.2245-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1411-2A>G;ENST00000536736:exon18:c.2245-2A>G;ENST00000441551:exon18:c.2245-2A>G)	.	.	0.999993519952936	0.928
18	44146414	T	G	18	46566451	y	y	splicing	LOXHD1(NM_144612:exon18:c.2245-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon11:c.1411-2A>C;ENST00000536736:exon18:c.2245-2A>C;ENST00000441551:exon18:c.2245-2A>C)	.	.	0.999993519952936	0.928
18	44146415	G	A	18	46566452	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00780602893703322	0.088
18	44146415	G	C	18	46566452	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999741603811146	0.924
18	44146415	G	T	18	46566452	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.984305223548607	0.664
18	44146416	A	C	18	46566453	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.14757135987578E-4	0.008
18	44146416	A	G	18	46566453	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.04711611884766E-4	0.012
18	44146416	A	T	18	46566453	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.70912538261177E-5	0.012
18	44146417	A	C	18	46566454	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.98465758157081	0.796
18	44146417	A	G	18	46566454	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0245687607585315	0.09
18	44146417	A	T	18	46566454	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.993787346745891	0.896
18	44146418	G	A	18	46566455	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.06944799446116E-4	0.01
18	44146418	G	C	18	46566455	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0539767469834069	0.37
18	44146418	G	T	18	46566455	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0218319441778347	0.306
18	44146419	G	A	18	46566456	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.17688420156128E-4	0.016
18	44146419	G	C	18	46566456	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0275112814257914	0.194
18	44146419	G	T	18	46566456	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0751299079411146	0.216
18	44146420	A	C	18	46566457	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00830482255223233	0.198
18	44146420	A	G	18	46566457	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.37955255965078E-4	0.052
18	44146420	A	T	18	46566457	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.238449810692625	0.228
18	44146421	A	C	18	46566458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.989865988769885	0.748
18	44146421	A	G	18	46566458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0485784551651601	0.344
18	44146421	A	T	18	46566458	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997650927477615	0.828
18	44146422	A	C	18	46566459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.81423318569444	0.63
18	44146422	A	G	18	46566459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00234975673638744	0.046
18	44146422	A	T	18	46566459	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.958814653010427	0.744
18	44146423	C	A	18	46566460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.0066043672824E-4	0.01
18	44146423	C	G	18	46566460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.03263711117379E-4	0.004
18	44146423	C	T	18	46566460	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.8776181046336E-4	0.022
18	44146424	C	A	18	46566461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.04421882197906E-5	0.008
18	44146424	C	G	18	46566461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.52671844856107E-5	0.004
18	44146424	C	T	18	46566461	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998252267427758	0.936
18	44149397	A	C	18	46569434	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.27134770067358E-5	0.002
18	44149397	A	G	18	46569434	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.33141600191487E-5	0.0
18	44149397	A	T	18	46569434	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.33141600191487E-5	0.0
18	44149398	G	A	18	46569435	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.4647828129804E-5	0.0
18	44149398	G	C	18	46569435	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.02957566862718E-5	0.0
18	44149398	G	T	18	46569435	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.50642594308563E-5	0.0
18	44149399	A	C	18	46569436	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.191947092733626	0.478
18	44149399	A	G	18	46569436	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.643052334156614	0.554
18	44149399	A	T	18	46569436	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.8341579987913	0.578
18	44149400	C	A	18	46569437	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999944375263587	0.918
18	44149400	C	G	18	46569437	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995642022367054	0.592
18	44149400	C	T	18	46569437	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999481488330005	0.89
18	44149401	T	A	18	46569438	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.683055827372638	0.49
18	44149401	T	C	18	46569438	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.986553979694284	0.688
18	44149401	T	G	18	46569438	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.596088607912525	0.42
18	44149402	T	A	18	46569439	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.987645868554065	0.69
18	44149402	T	C	18	46569439	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.65796714350044E-4	0.018
18	44149402	T	G	18	46569439	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.991969655969737	0.758
18	44149403	A	C	18	46569440	y	y	splicing	LOXHD1(NM_144612:exon17:c.2244+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1410+2T>G;ENST00000536736:exon17:c.2244+2T>G;ENST00000441551:exon17:c.2244+2T>G)	.	.	0.999971317418422	0.888
18	44149403	A	G	18	46569440	y	y	splicing	LOXHD1(NM_144612:exon17:c.2244+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1410+2T>C;ENST00000536736:exon17:c.2244+2T>C;ENST00000441551:exon17:c.2244+2T>C)	.	.	0.967788928859094	0.584
18	44149403	A	T	18	46569440	y	y	splicing	LOXHD1(NM_144612:exon17:c.2244+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1410+2T>A;ENST00000536736:exon17:c.2244+2T>A;ENST00000441551:exon17:c.2244+2T>A)	.	.	0.999951957019574	0.874
18	44149404	C	A	18	46569441	y	y	splicing	LOXHD1(NM_144612:exon17:c.2244+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1410+1G>T;ENST00000536736:exon17:c.2244+1G>T;ENST00000441551:exon17:c.2244+1G>T)	.	.	0.99993314117114	0.948
18	44149404	C	G	18	46569441	y	y	splicing	LOXHD1(NM_144612:exon17:c.2244+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1410+1G>C;ENST00000536736:exon17:c.2244+1G>C;ENST00000441551:exon17:c.2244+1G>C)	.	.	0.99993314117114	0.948
18	44149404	C	T	18	46569441	y	y	splicing	LOXHD1(NM_144612:exon17:c.2244+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1410+1G>A;ENST00000536736:exon17:c.2244+1G>A;ENST00000441551:exon17:c.2244+1G>A)	.	.	0.99993314117114	0.944
18	44149405	A	C	18	46569442	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.T2244G:p.N748K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.T2244G:p.N748K;ENSG00000167210:ENST00000536736:exon16:c.T2244G:p.N748K;ENSG00000167210:ENST00000398722:exon9:c.T1410G:p.N470K;	6.46920112789284E-5	0.04
18	44149405	A	G	18	46569442	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon16:c.T2244C:p.N748N;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.T2244C:p.N748N;ENSG00000167210:ENST00000536736:exon16:c.T2244C:p.N748N;ENSG00000167210:ENST00000398722:exon9:c.T1410C:p.N470N;	1.87118061632534E-5	0.0
18	44149405	A	T	18	46569442	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.T2244A:p.N748K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.T2244A:p.N748K;ENSG00000167210:ENST00000536736:exon16:c.T2244A:p.N748K;ENSG00000167210:ENST00000398722:exon9:c.T1410A:p.N470K;	2.76213279662815E-5	0.046
18	44149406	T	A	18	46569443	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2243T:p.N748I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2243T:p.N748I;ENSG00000167210:ENST00000536736:exon16:c.A2243T:p.N748I;ENSG00000167210:ENST00000398722:exon9:c.A1409T:p.N470I;	0.122182276612832	0.434
18	44149406	T	C	18	46569443	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2243G:p.N748S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2243G:p.N748S;ENSG00000167210:ENST00000536736:exon16:c.A2243G:p.N748S;ENSG00000167210:ENST00000398722:exon9:c.A1409G:p.N470S;	0.160359088777856	0.312
18	44149406	T	G	18	46569443	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2243C:p.N748T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2243C:p.N748T;ENSG00000167210:ENST00000536736:exon16:c.A2243C:p.N748T;ENSG00000167210:ENST00000398722:exon9:c.A1409C:p.N470T;	0.112125572714656	0.462
18	44149407	T	A	18	46569444	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2242T:p.N748Y;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2242T:p.N748Y;ENSG00000167210:ENST00000536736:exon16:c.A2242T:p.N748Y;ENSG00000167210:ENST00000398722:exon9:c.A1408T:p.N470Y;	0.0230478306700218	0.262
18	44149407	T	C	18	46569444	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2242G:p.N748D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2242G:p.N748D;ENSG00000167210:ENST00000536736:exon16:c.A2242G:p.N748D;ENSG00000167210:ENST00000398722:exon9:c.A1408G:p.N470D;	2.03493063927855E-4	0.006
18	44149407	T	G	18	46569444	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2242C:p.N748H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2242C:p.N748H;ENSG00000167210:ENST00000536736:exon16:c.A2242C:p.N748H;ENSG00000167210:ENST00000398722:exon9:c.A1408C:p.N470H;	4.99418188119632E-5	0.01
18	44149600	G	A	18	46569637	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon16:c.C2049T:p.N683N;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.C2049T:p.N683N;ENSG00000167210:ENST00000536736:exon16:c.C2049T:p.N683N;ENSG00000167210:ENST00000398722:exon9:c.C1215T:p.N405N;	0.00297311617453106	0.056
18	44149600	G	C	18	46569637	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.C2049G:p.N683K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.C2049G:p.N683K;ENSG00000167210:ENST00000536736:exon16:c.C2049G:p.N683K;ENSG00000167210:ENST00000398722:exon9:c.C1215G:p.N405K;	8.36943062236537E-4	0.054
18	44149600	G	T	18	46569637	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.C2049A:p.N683K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.C2049A:p.N683K;ENSG00000167210:ENST00000536736:exon16:c.C2049A:p.N683K;ENSG00000167210:ENST00000398722:exon9:c.C1215A:p.N405K;	4.07703845524994E-4	0.054
18	44149601	T	A	18	46569638	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2048T:p.N683I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2048T:p.N683I;ENSG00000167210:ENST00000536736:exon16:c.A2048T:p.N683I;ENSG00000167210:ENST00000398722:exon9:c.A1214T:p.N405I;	0.117021708234631	0.222
18	44149601	T	C	18	46569638	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2048G:p.N683S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2048G:p.N683S;ENSG00000167210:ENST00000536736:exon16:c.A2048G:p.N683S;ENSG00000167210:ENST00000398722:exon9:c.A1214G:p.N405S;	6.46483681030368E-4	0.018
18	44149601	T	G	18	46569638	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon16:c.A2048C:p.N683T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon16:c.A2048C:p.N683T;ENSG00000167210:ENST00000536736:exon16:c.A2048C:p.N683T;ENSG00000167210:ENST00000398722:exon9:c.A1214C:p.N405T;	0.0471691371917877	0.302
18	44149602	C	A	18	46569639	y	y	splicing	LOXHD1(NM_144612:exon17:c.2048-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1214-1G>T;ENST00000536736:exon17:c.2048-1G>T;ENST00000441551:exon17:c.2048-1G>T)	.	.	0.999988630721284	0.944
18	44149602	C	G	18	46569639	y	y	splicing	LOXHD1(NM_144612:exon17:c.2048-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1214-1G>C;ENST00000536736:exon17:c.2048-1G>C;ENST00000441551:exon17:c.2048-1G>C)	.	.	0.999988630721284	0.944
18	44149602	C	T	18	46569639	y	y	splicing	LOXHD1(NM_144612:exon17:c.2048-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1214-1G>A;ENST00000536736:exon17:c.2048-1G>A;ENST00000441551:exon17:c.2048-1G>A)	.	.	0.999988630721284	0.944
18	44149603	T	A	18	46569640	y	y	splicing	LOXHD1(NM_144612:exon17:c.2048-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1214-2A>T;ENST00000536736:exon17:c.2048-2A>T;ENST00000441551:exon17:c.2048-2A>T)	.	.	0.999990764389106	0.944
18	44149603	T	C	18	46569640	y	y	splicing	LOXHD1(NM_144612:exon17:c.2048-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1214-2A>G;ENST00000536736:exon17:c.2048-2A>G;ENST00000441551:exon17:c.2048-2A>G)	.	.	0.999990764389106	0.944
18	44149603	T	G	18	46569640	y	y	splicing	LOXHD1(NM_144612:exon17:c.2048-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon10:c.1214-2A>C;ENST00000536736:exon17:c.2048-2A>C;ENST00000441551:exon17:c.2048-2A>C)	.	.	0.999990764389106	0.944
18	44149604	G	A	18	46569641	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0012819691458218	0.074
18	44149604	G	C	18	46569641	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999547289506361	0.722
18	44149604	G	T	18	46569641	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999392038412448	0.89
18	44149605	A	C	18	46569642	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.66080818503792E-4	0.1
18	44149605	A	G	18	46569642	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.50984183266245E-4	0.064
18	44149605	A	T	18	46569642	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.10449304134381E-5	0.002
18	44149606	A	C	18	46569643	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.608827362571818	0.266
18	44149606	A	G	18	46569643	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.12048542025312E-4	0.088
18	44149606	A	T	18	46569643	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.603281236816433	0.268
18	44149607	C	A	18	46569644	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.42592271784917E-5	0.002
18	44149607	C	G	18	46569644	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.47291330867773E-5	0.002
18	44149607	C	T	18	46569644	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.62184812266715E-5	0.066
18	44149608	A	C	18	46569645	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0129588613595972	0.184
18	44149608	A	G	18	46569645	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.50666833940862E-4	0.01
18	44149608	A	T	18	46569645	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997707177383578	0.934
18	44149609	G	A	18	46569646	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.08499471403279E-4	0.008
18	44149609	G	C	18	46569646	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00203477988079252	0.116
18	44149609	G	T	18	46569646	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0994910497282902	0.228
18	44149610	C	A	18	46569647	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.29437893996921E-5	0.066
18	44149610	C	G	18	46569647	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.29437893996921E-5	0.034
18	44149610	C	T	18	46569647	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.75580783664926E-4	0.142
18	44149611	C	A	18	46569648	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.47412152656193E-4	0.026
18	44149611	C	G	18	46569648	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.47412152656193E-4	0.02
18	44149611	C	T	18	46569648	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999756462545138	0.972
18	44149612	C	A	18	46569649	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00166061949572211	0.148
18	44149612	C	G	18	46569649	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.75145235744444E-4	0.05
18	44149612	C	T	18	46569649	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999917232858675	0.98
18	44149613	A	C	18	46569650	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0500792183780013	0.378
18	44149613	A	G	18	46569650	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0011625363613362	0.134
18	44149613	A	T	18	46569650	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999971504127642	0.954
18	44152041	C	A	18	46572078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00142802779300863	0.028
18	44152041	C	G	18	46572078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00891627706896928	0.082
18	44152041	C	T	18	46572078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.010124267719665	0.096
18	44152042	A	C	18	46572079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.44025492794542E-4	0.0
18	44152042	A	G	18	46572079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.17206398881399E-4	0.004
18	44152042	A	T	18	46572079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.96473044572606E-4	0.004
18	44152043	A	C	18	46572080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998765209646263	0.87
18	44152043	A	G	18	46572080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998789531574457	0.952
18	44152043	A	T	18	46572080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999697415876942	0.808
18	44152044	C	A	18	46572081	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999983342448007	0.97
18	44152044	C	G	18	46572081	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999969162415415	0.97
18	44152044	C	T	18	46572081	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999983342448007	0.988
18	44152045	T	A	18	46572082	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99989969361989	0.95
18	44152045	T	C	18	46572082	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999662514409592	0.98
18	44152045	T	G	18	46572082	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998908383635455	0.938
18	44152046	C	A	18	46572083	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.988375260549334	0.614
18	44152046	C	G	18	46572083	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994834653851105	0.668
18	44152046	C	T	18	46572083	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.86721110196416E-5	0.006
18	44152047	A	C	18	46572084	y	y	splicing	LOXHD1(NM_144612:exon16:c.2047+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1213+2T>G;ENST00000536736:exon16:c.2047+2T>G;ENST00000441551:exon16:c.2047+2T>G)	.	.	0.999988247793601	0.93
18	44152047	A	G	18	46572084	y	y	splicing	LOXHD1(NM_144612:exon16:c.2047+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1213+2T>C;ENST00000536736:exon16:c.2047+2T>C;ENST00000441551:exon16:c.2047+2T>C)	.	.	0.999943695454457	0.87
18	44152047	A	T	18	46572084	y	y	splicing	LOXHD1(NM_144612:exon16:c.2047+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1213+2T>A;ENST00000536736:exon16:c.2047+2T>A;ENST00000441551:exon16:c.2047+2T>A)	.	.	0.999988247793601	0.93
18	44152048	C	A	18	46572085	y	y	splicing	LOXHD1(NM_144612:exon16:c.2047+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1213+1G>T;ENST00000536736:exon16:c.2047+1G>T;ENST00000441551:exon16:c.2047+1G>T)	.	.	0.999989072007339	0.926
18	44152048	C	G	18	46572085	y	y	splicing	LOXHD1(NM_144612:exon16:c.2047+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1213+1G>C;ENST00000536736:exon16:c.2047+1G>C;ENST00000441551:exon16:c.2047+1G>C)	.	.	0.999989072007339	0.926
18	44152048	C	T	18	46572085	y	y	splicing	LOXHD1(NM_144612:exon16:c.2047+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1213+1G>A;ENST00000536736:exon16:c.2047+1G>A;ENST00000441551:exon16:c.2047+1G>A)	.	.	0.999989072007339	0.926
18	44152049	T	A	18	46572086	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.A2047T:p.N683Y;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.A2047T:p.N683Y;ENSG00000167210:ENST00000536736:exon15:c.A2047T:p.N683Y;ENSG00000167210:ENST00000398722:exon8:c.A1213T:p.N405Y;	0.719886470804708	0.384
18	44152049	T	C	18	46572086	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.A2047G:p.N683D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.A2047G:p.N683D;ENSG00000167210:ENST00000536736:exon15:c.A2047G:p.N683D;ENSG00000167210:ENST00000398722:exon8:c.A1213G:p.N405D;	0.408786951339152	0.228
18	44152049	T	G	18	46572086	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.A2047C:p.N683H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.A2047C:p.N683H;ENSG00000167210:ENST00000536736:exon15:c.A2047C:p.N683H;ENSG00000167210:ENST00000398722:exon8:c.A1213C:p.N405H;	0.670726665810908	0.68
18	44152050	C	A	18	46572087	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.G2046T:p.K682N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.G2046T:p.K682N;ENSG00000167210:ENST00000536736:exon15:c.G2046T:p.K682N;ENSG00000167210:ENST00000398722:exon8:c.G1212T:p.K404N;	0.15418415695142	0.236
18	44152050	C	G	18	46572087	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.G2046C:p.K682N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.G2046C:p.K682N;ENSG00000167210:ENST00000536736:exon15:c.G2046C:p.K682N;ENSG00000167210:ENST00000398722:exon8:c.G1212C:p.K404N;	0.00963926685004582	0.1
18	44152050	C	T	18	46572087	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon15:c.G2046A:p.K682K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.G2046A:p.K682K;ENSG00000167210:ENST00000536736:exon15:c.G2046A:p.K682K;ENSG00000167210:ENST00000398722:exon8:c.G1212A:p.K404K;	0.23938103935849	0.306
18	44152051	T	A	18	46572088	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.A2045T:p.K682M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.A2045T:p.K682M;ENSG00000167210:ENST00000536736:exon15:c.A2045T:p.K682M;ENSG00000167210:ENST00000398722:exon8:c.A1211T:p.K404M;	0.0447262588293735	0.29
18	44152051	T	C	18	46572088	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.A2045G:p.K682R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.A2045G:p.K682R;ENSG00000167210:ENST00000536736:exon15:c.A2045G:p.K682R;ENSG00000167210:ENST00000398722:exon8:c.A1211G:p.K404R;	0.0139448409220726	0.146
18	44152051	T	G	18	46572088	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.A2045C:p.K682T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.A2045C:p.K682T;ENSG00000167210:ENST00000536736:exon15:c.A2045C:p.K682T;ENSG00000167210:ENST00000398722:exon8:c.A1211C:p.K404T;	2.12347590310434E-4	0.086
18	44152124	A	C	18	46572161	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.T1972G:p.W658G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.T1972G:p.W658G;ENSG00000167210:ENST00000536736:exon15:c.T1972G:p.W658G;ENSG00000167210:ENST00000398722:exon8:c.T1138G:p.W380G;	0.0908113314052179	0.256
18	44152124	A	G	18	46572161	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.T1972C:p.W658R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.T1972C:p.W658R;ENSG00000167210:ENST00000536736:exon15:c.T1972C:p.W658R;ENSG00000167210:ENST00000398722:exon8:c.T1138C:p.W380R;	0.60999829565107	0.314
18	44152124	A	T	18	46572161	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.T1972A:p.W658R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.T1972A:p.W658R;ENSG00000167210:ENST00000536736:exon15:c.T1972A:p.W658R;ENSG00000167210:ENST00000398722:exon8:c.T1138A:p.W380R;	0.797618423746109	0.384
18	44152125	C	A	18	46572162	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.G1971T:p.R657S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.G1971T:p.R657S;ENSG00000167210:ENST00000536736:exon15:c.G1971T:p.R657S;ENSG00000167210:ENST00000398722:exon8:c.G1137T:p.R379S;	0.997214250353675	0.904
18	44152125	C	G	18	46572162	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon15:c.G1971C:p.R657S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.G1971C:p.R657S;ENSG00000167210:ENST00000536736:exon15:c.G1971C:p.R657S;ENSG00000167210:ENST00000398722:exon8:c.G1137C:p.R379S;	0.995986483652152	0.894
18	44152125	C	T	18	46572162	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon15:c.G1971A:p.R657R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon15:c.G1971A:p.R657R;ENSG00000167210:ENST00000536736:exon15:c.G1971A:p.R657R;ENSG00000167210:ENST00000398722:exon8:c.G1137A:p.R379R;	0.998766114678494	0.812
18	44152126	C	A	18	46572163	y	y	splicing	LOXHD1(NM_144612:exon16:c.1971-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1137-1G>T;ENST00000536736:exon16:c.1971-1G>T;ENST00000441551:exon16:c.1971-1G>T)	.	.	0.999989072007339	0.944
18	44152126	C	G	18	46572163	y	y	splicing	LOXHD1(NM_144612:exon16:c.1971-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1137-1G>C;ENST00000536736:exon16:c.1971-1G>C;ENST00000441551:exon16:c.1971-1G>C)	.	.	0.999989072007339	0.944
18	44152126	C	T	18	46572163	y	y	splicing	LOXHD1(NM_144612:exon16:c.1971-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1137-1G>A;ENST00000536736:exon16:c.1971-1G>A;ENST00000441551:exon16:c.1971-1G>A)	.	.	0.999989072007339	0.944
18	44152127	T	A	18	46572164	y	y	splicing	LOXHD1(NM_144612:exon16:c.1971-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1137-2A>T;ENST00000536736:exon16:c.1971-2A>T;ENST00000441551:exon16:c.1971-2A>T)	.	.	0.999988247793601	0.944
18	44152127	T	C	18	46572164	y	y	splicing	LOXHD1(NM_144612:exon16:c.1971-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1137-2A>G;ENST00000536736:exon16:c.1971-2A>G;ENST00000441551:exon16:c.1971-2A>G)	.	.	0.999988247793601	0.944
18	44152127	T	G	18	46572164	y	y	splicing	LOXHD1(NM_144612:exon16:c.1971-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon9:c.1137-2A>C;ENST00000536736:exon16:c.1971-2A>C;ENST00000441551:exon16:c.1971-2A>C)	.	.	0.999988247793601	0.944
18	44152128	G	A	18	46572165	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00150284402234991	0.104
18	44152128	G	C	18	46572165	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99958999641129	0.906
18	44152128	G	T	18	46572165	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.930938765157574	0.666
18	44152129	G	A	18	46572166	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.28085308344601E-4	0.022
18	44152129	G	C	18	46572166	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.367094453990304	0.554
18	44152129	G	T	18	46572166	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.65784828233522E-5	0.024
18	44152130	T	A	18	46572167	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.12659674308421E-5	0.0
18	44152130	T	C	18	46572167	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.81282382372008E-5	0.0
18	44152130	T	G	18	46572167	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.53890750032283E-5	0.0
18	44152131	G	A	18	46572168	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.24970967932108E-4	0.002
18	44152131	G	C	18	46572168	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.123791784111746	0.36
18	44152131	G	T	18	46572168	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0236648917814765	0.282
18	44152132	G	A	18	46572169	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.3523906296607E-4	0.006
18	44152132	G	C	18	46572169	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0122488902908126	0.222
18	44152132	G	T	18	46572169	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0295565197616726	0.138
18	44152133	G	A	18	46572170	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.36391293692677E-5	0.0
18	44152133	G	C	18	46572170	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0060932292805145	0.082
18	44152133	G	T	18	46572170	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00325111869091708	0.098
18	44152134	C	A	18	46572171	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.76005003093439E-5	0.092
18	44152134	C	G	18	46572171	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.80926822570706E-5	0.052
18	44152134	C	T	18	46572171	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.26655066192865E-4	0.07
18	44152135	A	C	18	46572172	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996388605024177	0.854
18	44152135	A	G	18	46572172	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.557119726998888	0.316
18	44152135	A	T	18	46572172	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999980094413842	0.964
18	44152136	A	C	18	46572173	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.991931276432822	0.65
18	44152136	A	G	18	46572173	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0428336944714871	0.278
18	44152136	A	T	18	46572173	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994032489065626	0.682
18	44152137	A	C	18	46572174	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999395135625856	0.948
18	44152137	A	G	18	46572174	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.05841166313177E-5	0.044
18	44152137	A	T	18	46572174	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.73418188944061	0.408
18	44157662	G	A	18	46577699	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.18168700964336E-5	0.0
18	44157662	G	C	18	46577699	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.24841793976049E-5	0.012
18	44157662	G	T	18	46577699	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.6182617099991E-5	0.0
18	44157663	C	A	18	46577700	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.30691927753517E-5	0.0
18	44157663	C	G	18	46577700	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.77547636659262E-5	0.0
18	44157663	C	T	18	46577700	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.91577944109263E-5	0.002
18	44157664	A	C	18	46577701	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.94281710055348E-5	0.098
18	44157664	A	G	18	46577701	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.7561875242685E-4	0.142
18	44157664	A	T	18	46577701	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.09616251634776E-4	0.046
18	44157665	T	A	18	46577702	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.52957172635447E-5	0.008
18	44157665	T	C	18	46577702	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.86731074659372E-5	0.006
18	44157665	T	G	18	46577702	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.31698131304472E-4	0.024
18	44157666	G	A	18	46577703	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00127485366851091	0.206
18	44157666	G	C	18	46577703	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.67755193544356E-4	0.124
18	44157666	G	T	18	46577703	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.53812898778188E-4	0.076
18	44157667	T	A	18	46577704	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998670005206312	0.904
18	44157667	T	C	18	46577704	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.961985897798567	0.8
18	44157667	T	G	18	46577704	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999840753730662	0.95
18	44157668	A	C	18	46577705	y	y	splicing	LOXHD1(NM_144612:exon15:c.1970+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.1136+2T>G;ENST00000536736:exon15:c.1970+2T>G;ENST00000441551:exon15:c.1970+2T>G)	.	.	0.999939020951004	0.94
18	44157668	A	G	18	46577705	y	y	splicing	LOXHD1(NM_144612:exon15:c.1970+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.1136+2T>C;ENST00000536736:exon15:c.1970+2T>C;ENST00000441551:exon15:c.1970+2T>C)	.	.	0.949853567280817	0.59
18	44157668	A	T	18	46577705	y	y	splicing	LOXHD1(NM_144612:exon15:c.1970+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.1136+2T>A;ENST00000536736:exon15:c.1970+2T>A;ENST00000441551:exon15:c.1970+2T>A)	.	.	0.999939020951004	0.938
18	44157669	C	A	18	46577706	y	y	splicing	LOXHD1(NM_144612:exon15:c.1970+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.1136+1G>T;ENST00000536736:exon15:c.1970+1G>T;ENST00000441551:exon15:c.1970+1G>T)	.	.	0.999986675681007	0.926
18	44157669	C	G	18	46577706	y	y	splicing	LOXHD1(NM_144612:exon15:c.1970+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.1136+1G>C;ENST00000536736:exon15:c.1970+1G>C;ENST00000441551:exon15:c.1970+1G>C)	.	.	0.999986675681007	0.926
18	44157669	C	T	18	46577706	y	y	splicing	LOXHD1(NM_144612:exon15:c.1970+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.1136+1G>A;ENST00000536736:exon15:c.1970+1G>A;ENST00000441551:exon15:c.1970+1G>A)	.	.	0.999986675681007	0.926
18	44157670	C	A	18	46577707	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.G1970T:p.R657M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.G1970T:p.R657M;ENSG00000167210:ENST00000536736:exon14:c.G1970T:p.R657M;ENSG00000167210:ENST00000398722:exon7:c.G1136T:p.R379M;	0.999922628710934	0.946
18	44157670	C	G	18	46577707	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.G1970C:p.R657T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.G1970C:p.R657T;ENSG00000167210:ENST00000536736:exon14:c.G1970C:p.R657T;ENSG00000167210:ENST00000398722:exon7:c.G1136C:p.R379T;	0.999976582853382	0.948
18	44157670	C	T	18	46577707	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.G1970A:p.R657K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.G1970A:p.R657K;ENSG00000167210:ENST00000536736:exon14:c.G1970A:p.R657K;ENSG00000167210:ENST00000398722:exon7:c.G1136A:p.R379K;	0.999910046693526	0.972
18	44157671	T	A	18	46577708	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.A1969T:p.R657W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.A1969T:p.R657W;ENSG00000167210:ENST00000536736:exon14:c.A1969T:p.R657W;ENSG00000167210:ENST00000398722:exon7:c.A1135T:p.R379W;	0.981904891108895	0.786
18	44157671	T	C	18	46577708	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.A1969G:p.R657G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.A1969G:p.R657G;ENSG00000167210:ENST00000536736:exon14:c.A1969G:p.R657G;ENSG00000167210:ENST00000398722:exon7:c.A1135G:p.R379G;	0.995270751960048	0.868
18	44157671	T	G	18	46577708	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon14:c.A1969C:p.R657R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.A1969C:p.R657R;ENSG00000167210:ENST00000536736:exon14:c.A1969C:p.R657R;ENSG00000167210:ENST00000398722:exon7:c.A1135C:p.R379R;	0.911485450210711	0.778
18	44157672	G	A	18	46577709	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon14:c.C1968T:p.L656L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.C1968T:p.L656L;ENSG00000167210:ENST00000536736:exon14:c.C1968T:p.L656L;ENSG00000167210:ENST00000398722:exon7:c.C1134T:p.L378L;	0.989393630481624	0.726
18	44157672	G	C	18	46577709	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon14:c.C1968G:p.L656L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.C1968G:p.L656L;ENSG00000167210:ENST00000536736:exon14:c.C1968G:p.L656L;ENSG00000167210:ENST00000398722:exon7:c.C1134G:p.L378L;	0.0018750902565014	0.092
18	44157672	G	T	18	46577709	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon14:c.C1968A:p.L656L;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.C1968A:p.L656L;ENSG00000167210:ENST00000536736:exon14:c.C1968A:p.L656L;ENSG00000167210:ENST00000398722:exon7:c.C1134A:p.L378L;	0.00171765251931075	0.114
18	44157829	G	A	18	46577866	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.C1811T:p.A604V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.C1811T:p.A604V;ENSG00000167210:ENST00000536736:exon14:c.C1811T:p.A604V;ENSG00000167210:ENST00000398722:exon7:c.C977T:p.A326V;	0.00477216748874503	0.092
18	44157829	G	C	18	46577866	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.C1811G:p.A604G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.C1811G:p.A604G;ENSG00000167210:ENST00000536736:exon14:c.C1811G:p.A604G;ENSG00000167210:ENST00000398722:exon7:c.C977G:p.A326G;	0.00197572738858499	0.058
18	44157829	G	T	18	46577866	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.C1811A:p.A604D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.C1811A:p.A604D;ENSG00000167210:ENST00000536736:exon14:c.C1811A:p.A604D;ENSG00000167210:ENST00000398722:exon7:c.C977A:p.A326D;	0.00602455663511611	0.112
18	44157830	C	A	18	46577867	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.G1810T:p.A604S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.G1810T:p.A604S;ENSG00000167210:ENST00000536736:exon14:c.G1810T:p.A604S;ENSG00000167210:ENST00000398722:exon7:c.G976T:p.A326S;	0.999583169716675	0.786
18	44157830	C	G	18	46577867	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.G1810C:p.A604P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.G1810C:p.A604P;ENSG00000167210:ENST00000536736:exon14:c.G1810C:p.A604P;ENSG00000167210:ENST00000398722:exon7:c.G976C:p.A326P;	0.990538869284039	0.692
18	44157830	C	T	18	46577867	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon14:c.G1810A:p.A604T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon14:c.G1810A:p.A604T;ENSG00000167210:ENST00000536736:exon14:c.G1810A:p.A604T;ENSG00000167210:ENST00000398722:exon7:c.G976A:p.A326T;	0.997441132208915	0.636
18	44157831	C	A	18	46577868	y	y	splicing	LOXHD1(NM_144612:exon15:c.1810-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.976-1G>T;ENST00000536736:exon15:c.1810-1G>T;ENST00000441551:exon15:c.1810-1G>T)	.	.	0.999948737127494	0.908
18	44157831	C	G	18	46577868	y	y	splicing	LOXHD1(NM_144612:exon15:c.1810-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.976-1G>C;ENST00000536736:exon15:c.1810-1G>C;ENST00000441551:exon15:c.1810-1G>C)	.	.	0.999948737127494	0.906
18	44157831	C	T	18	46577868	y	y	splicing	LOXHD1(NM_144612:exon15:c.1810-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.976-1G>A;ENST00000536736:exon15:c.1810-1G>A;ENST00000441551:exon15:c.1810-1G>A)	.	.	0.999948737127494	0.908
18	44157832	T	A	18	46577869	y	y	splicing	LOXHD1(NM_144612:exon15:c.1810-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.976-2A>T;ENST00000536736:exon15:c.1810-2A>T;ENST00000441551:exon15:c.1810-2A>T)	.	.	0.999955202219928	0.928
18	44157832	T	C	18	46577869	y	y	splicing	LOXHD1(NM_144612:exon15:c.1810-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.976-2A>G;ENST00000536736:exon15:c.1810-2A>G;ENST00000441551:exon15:c.1810-2A>G)	.	.	0.999970776446336	0.928
18	44157832	T	G	18	46577869	y	y	splicing	LOXHD1(NM_144612:exon15:c.1810-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon8:c.976-2A>C;ENST00000536736:exon15:c.1810-2A>C;ENST00000441551:exon15:c.1810-2A>C)	.	.	0.999970776446336	0.928
18	44157833	T	A	18	46577870	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.56750912329081E-4	0.022
18	44157833	T	C	18	46577870	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0463871068725332	0.276
18	44157833	T	G	18	46577870	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.74236437715326E-4	0.062
18	44157834	G	A	18	46577871	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.30374967837554E-4	0.028
18	44157834	G	C	18	46577871	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996451633372583	0.942
18	44157834	G	T	18	46577871	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.12038021967031E-5	0.026
18	44157835	T	A	18	46577872	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.86787951521512E-5	0.002
18	44157835	T	C	18	46577872	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.23383985928474E-5	0.0
18	44157835	T	G	18	46577872	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.67344046389169E-5	0.008
18	44157836	G	A	18	46577873	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.60433886793066E-5	0.0
18	44157836	G	C	18	46577873	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.05747201822556E-4	0.106
18	44157836	G	T	18	46577873	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.56649278903709E-4	0.076
18	44157837	G	A	18	46577874	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.59059278721536E-5	0.002
18	44157837	G	C	18	46577874	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0128448697892083	0.088
18	44157837	G	T	18	46577874	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00311806487586752	0.094
18	44157838	G	A	18	46577875	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.77934198191134E-5	0.0
18	44157838	G	C	18	46577875	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.34492692202863E-4	0.034
18	44157838	G	T	18	46577875	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.55926425683409E-4	0.054
18	44157839	G	A	18	46577876	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.77433640957459E-4	0.01
18	44157839	G	C	18	46577876	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0027229657177855	0.08
18	44157839	G	T	18	46577876	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0195308394522155	0.148
18	44157840	G	A	18	46577877	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.76843791673318E-5	0.0
18	44157840	G	C	18	46577877	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.95568080075904E-4	0.044
18	44157840	G	T	18	46577877	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00115961713174877	0.08
18	44157841	G	A	18	46577878	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.33910925060437E-5	0.0
18	44157841	G	C	18	46577878	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00130460413249221	0.088
18	44157841	G	T	18	46577878	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00526350087788272	0.106
18	44157842	A	C	18	46577879	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00774140823385778	0.184
18	44157842	A	G	18	46577879	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.00053940771114E-4	0.006
18	44157842	A	T	18	46577879	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0160668560513817	0.232
18	44159585	T	A	18	46579622	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.99364647655873E-4	0.032
18	44159585	T	C	18	46579622	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.8152880782108E-4	0.054
18	44159585	T	G	18	46579622	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.46729526559721E-4	0.106
18	44159586	A	C	18	46579623	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.19654139589154E-5	0.002
18	44159586	A	G	18	46579623	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.92239865435711E-5	0.004
18	44159586	A	T	18	46579623	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.17299264727145E-5	0.0
18	44159587	A	C	18	46579624	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.982941810755751	0.778
18	44159587	A	G	18	46579624	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.98501418321474	0.752
18	44159587	A	T	18	46579624	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.980999018338378	0.686
18	44159588	C	A	18	46579625	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999895033848064	0.81
18	44159588	C	G	18	46579625	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998766317569597	0.942
18	44159588	C	T	18	46579625	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999367150635485	0.87
18	44159589	T	A	18	46579626	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998088983472216	0.9
18	44159589	T	C	18	46579626	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.9981997413718	0.948
18	44159589	T	G	18	46579626	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998003857229062	0.912
18	44159590	T	A	18	46579627	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99988455532945	0.9
18	44159590	T	C	18	46579627	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0219716963224704	0.132
18	44159590	T	G	18	46579627	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999845766215278	0.912
18	44159591	A	C	18	46579628	y	y	splicing	LOXHD1(NM_144612:exon14:c.1809+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.975+2T>G;ENST00000536736:exon14:c.1809+2T>G;ENST00000441551:exon14:c.1809+2T>G)	.	.	0.999993519952936	0.93
18	44159591	A	G	18	46579628	y	y	splicing	LOXHD1(NM_144612:exon14:c.1809+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.975+2T>C;ENST00000536736:exon14:c.1809+2T>C;ENST00000441551:exon14:c.1809+2T>C)	.	.	0.993596150545159	0.624
18	44159591	A	T	18	46579628	y	y	splicing	LOXHD1(NM_144612:exon14:c.1809+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.975+2T>A;ENST00000536736:exon14:c.1809+2T>A;ENST00000441551:exon14:c.1809+2T>A)	.	.	0.999993519952936	0.93
18	44159592	C	A	18	46579629	y	y	splicing	LOXHD1(NM_144612:exon14:c.1809+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.975+1G>T;ENST00000536736:exon14:c.1809+1G>T;ENST00000441551:exon14:c.1809+1G>T)	.	.	0.999988247793601	0.928
18	44159592	C	G	18	46579629	y	y	splicing	LOXHD1(NM_144612:exon14:c.1809+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.975+1G>C;ENST00000536736:exon14:c.1809+1G>C;ENST00000441551:exon14:c.1809+1G>C)	.	.	0.999988247793601	0.928
18	44159592	C	T	18	46579629	y	y	splicing	LOXHD1(NM_144612:exon14:c.1809+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.975+1G>A;ENST00000536736:exon14:c.1809+1G>A;ENST00000441551:exon14:c.1809+1G>A)	.	.	0.999988247793601	0.928
18	44159593	A	C	18	46579630	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.T1809G:p.N603K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.T1809G:p.N603K;ENSG00000167210:ENST00000536736:exon13:c.T1809G:p.N603K;ENSG00000167210:ENST00000398722:exon6:c.T975G:p.N325K;	2.80307562311879E-4	0.066
18	44159593	A	G	18	46579630	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon13:c.T1809C:p.N603N;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.T1809C:p.N603N;ENSG00000167210:ENST00000536736:exon13:c.T1809C:p.N603N;ENSG00000167210:ENST00000398722:exon6:c.T975C:p.N325N;	0.00211593534461702	0.054
18	44159593	A	T	18	46579630	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.T1809A:p.N603K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.T1809A:p.N603K;ENSG00000167210:ENST00000536736:exon13:c.T1809A:p.N603K;ENSG00000167210:ENST00000398722:exon6:c.T975A:p.N325K;	1.97516692932001E-4	0.002
18	44159594	T	A	18	46579631	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.A1808T:p.N603I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.A1808T:p.N603I;ENSG00000167210:ENST00000536736:exon13:c.A1808T:p.N603I;ENSG00000167210:ENST00000398722:exon6:c.A974T:p.N325I;	0.733915138573867	0.704
18	44159594	T	C	18	46579631	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.A1808G:p.N603S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.A1808G:p.N603S;ENSG00000167210:ENST00000536736:exon13:c.A1808G:p.N603S;ENSG00000167210:ENST00000398722:exon6:c.A974G:p.N325S;	0.349847104044037	0.488
18	44159594	T	G	18	46579631	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.A1808C:p.N603T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.A1808C:p.N603T;ENSG00000167210:ENST00000536736:exon13:c.A1808C:p.N603T;ENSG00000167210:ENST00000398722:exon6:c.A974C:p.N325T;	0.535918230949063	0.68
18	44159595	T	A	18	46579632	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.A1807T:p.N603Y;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.A1807T:p.N603Y;ENSG00000167210:ENST00000536736:exon13:c.A1807T:p.N603Y;ENSG00000167210:ENST00000398722:exon6:c.A973T:p.N325Y;	0.728899936372414	0.49
18	44159595	T	C	18	46579632	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.A1807G:p.N603D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.A1807G:p.N603D;ENSG00000167210:ENST00000536736:exon13:c.A1807G:p.N603D;ENSG00000167210:ENST00000398722:exon6:c.A973G:p.N325D;	0.202901466878566	0.292
18	44159595	T	G	18	46579632	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.A1807C:p.N603H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.A1807C:p.N603H;ENSG00000167210:ENST00000536736:exon13:c.A1807C:p.N603H;ENSG00000167210:ENST00000398722:exon6:c.A973C:p.N325H;	0.0252395055314633	0.212
18	44159746	C	A	18	46579783	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.G1656T:p.M552I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.G1656T:p.M552I;ENSG00000167210:ENST00000536736:exon13:c.G1656T:p.M552I;ENSG00000167210:ENST00000398722:exon6:c.G822T:p.M274I;	0.426174454466747	0.49
18	44159746	C	G	18	46579783	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.G1656C:p.M552I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.G1656C:p.M552I;ENSG00000167210:ENST00000536736:exon13:c.G1656C:p.M552I;ENSG00000167210:ENST00000398722:exon6:c.G822C:p.M274I;	0.392455307497652	0.514
18	44159746	C	T	18	46579783	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.G1656A:p.M552I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.G1656A:p.M552I;ENSG00000167210:ENST00000536736:exon13:c.G1656A:p.M552I;ENSG00000167210:ENST00000398722:exon6:c.G822A:p.M274I;	0.861115189143413	0.566
18	44159747	A	C	18	46579784	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.T1655G:p.M552R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.T1655G:p.M552R;ENSG00000167210:ENST00000536736:exon13:c.T1655G:p.M552R;ENSG00000167210:ENST00000398722:exon6:c.T821G:p.M274R;	0.00283558397574573	0.098
18	44159747	A	G	18	46579784	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.T1655C:p.M552T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.T1655C:p.M552T;ENSG00000167210:ENST00000536736:exon13:c.T1655C:p.M552T;ENSG00000167210:ENST00000398722:exon6:c.T821C:p.M274T;	0.0111087789631811	0.032
18	44159747	A	T	18	46579784	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon13:c.T1655A:p.M552K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon13:c.T1655A:p.M552K;ENSG00000167210:ENST00000536736:exon13:c.T1655A:p.M552K;ENSG00000167210:ENST00000398722:exon6:c.T821A:p.M274K;	0.0236570633176401	0.24
18	44159748	C	A	18	46579785	y	y	splicing	LOXHD1(NM_144612:exon14:c.1655-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.821-1G>T;ENST00000536736:exon14:c.1655-1G>T;ENST00000441551:exon14:c.1655-1G>T)	.	.	0.999986675681007	0.944
18	44159748	C	G	18	46579785	y	y	splicing	LOXHD1(NM_144612:exon14:c.1655-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.821-1G>C;ENST00000536736:exon14:c.1655-1G>C;ENST00000441551:exon14:c.1655-1G>C)	.	.	0.999986675681007	0.944
18	44159748	C	T	18	46579785	y	y	splicing	LOXHD1(NM_144612:exon14:c.1655-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.821-1G>A;ENST00000536736:exon14:c.1655-1G>A;ENST00000441551:exon14:c.1655-1G>A)	.	.	0.999986675681007	0.944
18	44159749	T	A	18	46579786	y	y	splicing	LOXHD1(NM_144612:exon14:c.1655-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.821-2A>T;ENST00000536736:exon14:c.1655-2A>T;ENST00000441551:exon14:c.1655-2A>T)	.	.	0.999988247793601	0.94
18	44159749	T	C	18	46579786	y	y	splicing	LOXHD1(NM_144612:exon14:c.1655-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.821-2A>G;ENST00000536736:exon14:c.1655-2A>G;ENST00000441551:exon14:c.1655-2A>G)	.	.	0.999988247793601	0.94
18	44159749	T	G	18	46579786	y	y	splicing	LOXHD1(NM_144612:exon14:c.1655-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon7:c.821-2A>C;ENST00000536736:exon14:c.1655-2A>C;ENST00000441551:exon14:c.1655-2A>C)	.	.	0.999988247793601	0.94
18	44159750	G	A	18	46579787	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.981680381836595	0.424
18	44159750	G	C	18	46579787	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999931256209259	0.93
18	44159750	G	T	18	46579787	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999524464083128	0.972
18	44159751	G	A	18	46579788	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.66151923825837E-4	0.028
18	44159751	G	C	18	46579788	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.20647046926441E-4	0.118
18	44159751	G	T	18	46579788	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.9490907779296E-5	0.014
18	44159752	C	A	18	46579789	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.91635765426405E-5	0.004
18	44159752	C	G	18	46579789	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.3412752255412E-4	0.006
18	44159752	C	T	18	46579789	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.29909857722862E-4	0.03
18	44159753	A	C	18	46579790	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.595356740916052	0.606
18	44159753	A	G	18	46579790	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.68491079030083E-5	0.138
18	44159753	A	T	18	46579790	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999973960566021	0.924
18	44159754	G	A	18	46579791	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.003672582683054	0.044
18	44159754	G	C	18	46579791	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0126440441887441	0.114
18	44159754	G	T	18	46579791	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0271457626112931	0.152
18	44159755	G	A	18	46579792	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.21810854718059E-4	0.072
18	44159755	G	C	18	46579792	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0425855848886606	0.128
18	44159755	G	T	18	46579792	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0221822322967448	0.152
18	44159756	C	A	18	46579793	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.02020930772828E-5	0.006
18	44159756	C	G	18	46579793	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.53480687781485E-5	0.018
18	44159756	C	T	18	46579793	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.37303251426277E-4	0.122
18	44159757	A	C	18	46579794	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.976346015094678	0.686
18	44159757	A	G	18	46579794	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00212417267928329	0.05
18	44159757	A	T	18	46579794	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999976153715437	0.972
18	44159758	G	A	18	46579795	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.99916512895158E-4	0.06
18	44159758	G	C	18	46579795	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00173424934303686	0.142
18	44159758	G	T	18	46579795	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00306578825274468	0.276
18	44159759	A	C	18	46579796	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.990720058636565	0.818
18	44159759	A	G	18	46579796	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0114091969861475	0.178
18	44159759	A	T	18	46579796	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.992027584514233	0.832
18	44171888	G	A	18	46591925	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.07071829216471E-4	0.002
18	44171888	G	C	18	46591925	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.5299706299591E-4	0.0
18	44171888	G	T	18	46591925	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.36574153602775E-4	0.0
18	44171889	T	A	18	46591926	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.72031392874506E-4	0.004
18	44171889	T	C	18	46591926	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.70557612211534E-4	0.008
18	44171889	T	G	18	46591926	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.70557612211534E-4	0.004
18	44171890	A	C	18	46591927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995561361872976	0.778
18	44171890	A	G	18	46591927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.993603679155757	0.834
18	44171890	A	T	18	46591927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996568409136895	0.708
18	44171891	C	A	18	46591928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999968467875774	0.992
18	44171891	C	G	18	46591928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999976589482943	0.99
18	44171891	C	T	18	46591928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999976060952846	1.0
18	44171892	T	A	18	46591929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998836609842833	0.942
18	44171892	T	C	18	46591929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994324101400933	0.894
18	44171892	T	G	18	46591929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996434208359954	0.874
18	44171893	T	A	18	46591930	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.993917071790733	0.736
18	44171893	T	C	18	46591930	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.13896410684315E-4	0.056
18	44171893	T	G	18	46591930	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996366119633942	0.736
18	44171894	A	C	18	46591931	y	y	splicing	LOXHD1(NM_144612:exon13:c.1654+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.820+2T>G;ENST00000536736:exon13:c.1654+2T>G;ENST00000441551:exon13:c.1654+2T>G)	.	.	0.999986607513753	0.92
18	44171894	A	G	18	46591931	y	y	splicing	LOXHD1(NM_144612:exon13:c.1654+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.820+2T>C;ENST00000536736:exon13:c.1654+2T>C;ENST00000441551:exon13:c.1654+2T>C)	.	.	0.988442841961622	0.568
18	44171894	A	T	18	46591931	y	y	splicing	LOXHD1(NM_144612:exon13:c.1654+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.820+2T>A;ENST00000536736:exon13:c.1654+2T>A;ENST00000441551:exon13:c.1654+2T>A)	.	.	0.999986607513753	0.92
18	44171895	C	A	18	46591932	y	y	splicing	LOXHD1(NM_144612:exon13:c.1654+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.820+1G>T;ENST00000536736:exon13:c.1654+1G>T;ENST00000441551:exon13:c.1654+1G>T)	.	.	0.999990361384395	0.938
18	44171895	C	G	18	46591932	y	y	splicing	LOXHD1(NM_144612:exon13:c.1654+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.820+1G>C;ENST00000536736:exon13:c.1654+1G>C;ENST00000441551:exon13:c.1654+1G>C)	.	.	0.999990361384395	0.936
18	44171895	C	T	18	46591932	y	y	splicing	LOXHD1(NM_144612:exon13:c.1654+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.820+1G>A;ENST00000536736:exon13:c.1654+1G>A;ENST00000441551:exon13:c.1654+1G>A)	.	.	0.999990361384395	0.938
18	44171896	T	A	18	46591933	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.A1654T:p.M552L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.A1654T:p.M552L;ENSG00000167210:ENST00000536736:exon12:c.A1654T:p.M552L;ENSG00000167210:ENST00000398722:exon5:c.A820T:p.M274L;	0.00474962392691293	0.152
18	44171896	T	C	18	46591933	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.A1654G:p.M552V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.A1654G:p.M552V;ENSG00000167210:ENST00000536736:exon12:c.A1654G:p.M552V;ENSG00000167210:ENST00000398722:exon5:c.A820G:p.M274V;	1.79164140025943E-4	0.056
18	44171896	T	G	18	46591933	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.A1654C:p.M552L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.A1654C:p.M552L;ENSG00000167210:ENST00000536736:exon12:c.A1654C:p.M552L;ENSG00000167210:ENST00000398722:exon5:c.A820C:p.M274L;	0.0147075114376003	0.14
18	44171897	G	A	18	46591934	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon12:c.C1653T:p.G551G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.C1653T:p.G551G;ENSG00000167210:ENST00000536736:exon12:c.C1653T:p.G551G;ENSG00000167210:ENST00000398722:exon5:c.C819T:p.G273G;	2.48346363403404E-4	0.06
18	44171897	G	C	18	46591934	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon12:c.C1653G:p.G551G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.C1653G:p.G551G;ENSG00000167210:ENST00000536736:exon12:c.C1653G:p.G551G;ENSG00000167210:ENST00000398722:exon5:c.C819G:p.G273G;	6.83301040677855E-4	0.112
18	44171897	G	T	18	46591934	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon12:c.C1653A:p.G551G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.C1653A:p.G551G;ENSG00000167210:ENST00000536736:exon12:c.C1653A:p.G551G;ENSG00000167210:ENST00000398722:exon5:c.C819A:p.G273G;	6.07408105815452E-4	0.13
18	44171898	C	A	18	46591935	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.G1652T:p.G551V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.G1652T:p.G551V;ENSG00000167210:ENST00000536736:exon12:c.G1652T:p.G551V;ENSG00000167210:ENST00000398722:exon5:c.G818T:p.G273V;	0.00228376740630701	0.102
18	44171898	C	G	18	46591935	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.G1652C:p.G551A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.G1652C:p.G551A;ENSG00000167210:ENST00000536736:exon12:c.G1652C:p.G551A;ENSG00000167210:ENST00000398722:exon5:c.G818C:p.G273A;	6.62799958843523E-4	0.044
18	44171898	C	T	18	46591935	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.G1652A:p.G551D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.G1652A:p.G551D;ENSG00000167210:ENST00000536736:exon12:c.G1652A:p.G551D;ENSG00000167210:ENST00000398722:exon5:c.G818A:p.G273D;	6.62799958843523E-4	0.028
18	44172030	A	C	18	46592067	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.T1520G:p.M507R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.T1520G:p.M507R;ENSG00000167210:ENST00000536736:exon12:c.T1520G:p.M507R;ENSG00000167210:ENST00000398722:exon5:c.T686G:p.M229R;	0.284376677855171	0.41
18	44172030	A	G	18	46592067	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.T1520C:p.M507T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.T1520C:p.M507T;ENSG00000167210:ENST00000536736:exon12:c.T1520C:p.M507T;ENSG00000167210:ENST00000398722:exon5:c.T686C:p.M229T;	0.177831092225842	0.3
18	44172030	A	T	18	46592067	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.T1520A:p.M507K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.T1520A:p.M507K;ENSG00000167210:ENST00000536736:exon12:c.T1520A:p.M507K;ENSG00000167210:ENST00000398722:exon5:c.T686A:p.M229K;	0.874089006307808	0.608
18	44172031	T	A	18	46592068	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.A1519T:p.M507L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.A1519T:p.M507L;ENSG00000167210:ENST00000536736:exon12:c.A1519T:p.M507L;ENSG00000167210:ENST00000398722:exon5:c.A685T:p.M229L;	0.479288604059449	0.384
18	44172031	T	C	18	46592068	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.A1519G:p.M507V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.A1519G:p.M507V;ENSG00000167210:ENST00000536736:exon12:c.A1519G:p.M507V;ENSG00000167210:ENST00000398722:exon5:c.A685G:p.M229V;	6.28425980691976E-4	0.026
18	44172031	T	G	18	46592068	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon12:c.A1519C:p.M507L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon12:c.A1519C:p.M507L;ENSG00000167210:ENST00000536736:exon12:c.A1519C:p.M507L;ENSG00000167210:ENST00000398722:exon5:c.A685C:p.M229L;	0.210088963879888	0.38
18	44172032	C	A	18	46592069	y	y	splicing	LOXHD1(NM_144612:exon13:c.1519-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.685-1G>T;ENST00000536736:exon13:c.1519-1G>T;ENST00000441551:exon13:c.1519-1G>T)	.	.	0.999989125585301	0.944
18	44172032	C	G	18	46592069	y	y	splicing	LOXHD1(NM_144612:exon13:c.1519-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.685-1G>C;ENST00000536736:exon13:c.1519-1G>C;ENST00000441551:exon13:c.1519-1G>C)	.	.	0.999989125585301	0.944
18	44172032	C	T	18	46592069	y	y	splicing	LOXHD1(NM_144612:exon13:c.1519-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.685-1G>A;ENST00000536736:exon13:c.1519-1G>A;ENST00000441551:exon13:c.1519-1G>A)	.	.	0.999989125585301	0.944
18	44172033	T	A	18	46592070	y	y	splicing	LOXHD1(NM_144612:exon13:c.1519-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.685-2A>T;ENST00000536736:exon13:c.1519-2A>T;ENST00000441551:exon13:c.1519-2A>T)	.	.	0.999986741007567	0.944
18	44172033	T	C	18	46592070	y	y	splicing	LOXHD1(NM_144612:exon13:c.1519-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.685-2A>G;ENST00000536736:exon13:c.1519-2A>G;ENST00000441551:exon13:c.1519-2A>G)	.	.	0.999986741007567	0.944
18	44172033	T	G	18	46592070	y	y	splicing	LOXHD1(NM_144612:exon13:c.1519-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon6:c.685-2A>C;ENST00000536736:exon13:c.1519-2A>C;ENST00000441551:exon13:c.1519-2A>C)	.	.	0.999986741007567	0.944
18	44172034	G	A	18	46592071	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.90476133950754E-4	0.162
18	44172034	G	C	18	46592071	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999861595825221	0.764
18	44172034	G	T	18	46592071	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999517251454195	0.804
18	44172035	G	A	18	46592072	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.44851576370107E-5	0.01
18	44172035	G	C	18	46592072	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.32695276625279E-5	0.002
18	44172035	G	T	18	46592072	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.52140358384108E-5	0.01
18	44172036	A	C	18	46592073	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.991267469526697	0.81
18	44172036	A	G	18	46592073	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.670591757677373	0.418
18	44172036	A	T	18	46592073	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997795131182798	0.92
18	44172037	A	C	18	46592074	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999938439818995	0.97
18	44172037	A	G	18	46592074	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0175735477165403	0.14
18	44172037	A	T	18	46592074	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.989444716252926	0.74
18	44172038	T	A	18	46592075	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.70062420021103E-5	0.022
18	44172038	T	C	18	46592075	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.13795310879575E-4	0.004
18	44172038	T	G	18	46592075	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.01488868567664E-5	0.006
18	44172039	G	A	18	46592076	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.6576126023211E-5	0.002
18	44172039	G	C	18	46592076	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0115345526917201	0.118
18	44172039	G	T	18	46592076	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00116820038904211	0.136
18	44172040	A	C	18	46592077	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0672152297688679	0.526
18	44172040	A	G	18	46592077	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00245243708962304	0.088
18	44172040	A	T	18	46592077	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.738823782455697	0.688
18	44172041	A	C	18	46592078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.722198821324993	0.53
18	44172041	A	G	18	46592078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00171677154696637	0.098
18	44172041	A	T	18	46592078	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.75786684285016	0.604
18	44172042	G	A	18	46592079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.4080081630222E-5	0.006
18	44172042	G	C	18	46592079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998826384691	0.946
18	44172042	G	T	18	46592079	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00147854423667174	0.084
18	44172043	T	A	18	46592080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.02173298536744E-5	0.004
18	44172043	T	C	18	46592080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994926674685338	0.984
18	44172043	T	G	18	46592080	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.25986073325872E-5	0.0
18	44172453	C	A	18	46592490	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.38663871710558E-4	0.042
18	44172453	C	G	18	46592490	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.83375097933106E-4	0.006
18	44172453	C	T	18	46592490	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.87155370523705E-4	0.002
18	44172454	A	C	18	46592491	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.73384372603926E-4	0.024
18	44172454	A	G	18	46592491	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.11637952313964E-4	0.002
18	44172454	A	T	18	46592491	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.11637952313964E-4	0.004
18	44172455	T	A	18	46592492	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.9487225685719E-4	0.038
18	44172455	T	C	18	46592492	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.77964666043673E-5	0.024
18	44172455	T	G	18	46592492	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.80692816252393E-4	0.078
18	44172456	C	A	18	46592493	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999950758674919	0.982
18	44172456	C	G	18	46592493	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999961948055605	1.0
18	44172456	C	T	18	46592493	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999966255854918	0.996
18	44172457	T	A	18	46592494	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999772947033309	0.96
18	44172457	T	C	18	46592494	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99879297038703	0.978
18	44172457	T	G	18	46592494	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998592715095945	0.952
18	44172458	C	A	18	46592495	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.990401307028049	0.73
18	44172458	C	G	18	46592495	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.961599708168059	0.786
18	44172458	C	T	18	46592495	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.52760914458779E-4	0.022
18	44172459	A	C	18	46592496	y	y	splicing	LOXHD1(NM_144612:exon12:c.1518+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.684+2T>G;ENST00000536736:exon12:c.1518+2T>G;ENST00000441551:exon12:c.1518+2T>G)	.	.	0.999988247793601	0.922
18	44172459	A	G	18	46592496	y	y	splicing	LOXHD1(NM_144612:exon12:c.1518+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.684+2T>C;ENST00000536736:exon12:c.1518+2T>C;ENST00000441551:exon12:c.1518+2T>C)	.	.	0.999977296025089	0.942
18	44172459	A	T	18	46592496	y	y	splicing	LOXHD1(NM_144612:exon12:c.1518+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.684+2T>A;ENST00000536736:exon12:c.1518+2T>A;ENST00000441551:exon12:c.1518+2T>A)	.	.	0.999988247793601	0.922
18	44172460	C	A	18	46592497	y	y	splicing	LOXHD1(NM_144612:exon12:c.1518+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.684+1G>T;ENST00000536736:exon12:c.1518+1G>T;ENST00000441551:exon12:c.1518+1G>T)	.	.	0.999990361384395	0.932
18	44172460	C	G	18	46592497	y	y	splicing	LOXHD1(NM_144612:exon12:c.1518+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.684+1G>C;ENST00000536736:exon12:c.1518+1G>C;ENST00000441551:exon12:c.1518+1G>C)	.	.	0.999990361384395	0.932
18	44172460	C	T	18	46592497	y	y	splicing	LOXHD1(NM_144612:exon12:c.1518+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.684+1G>A;ENST00000536736:exon12:c.1518+1G>A;ENST00000441551:exon12:c.1518+1G>A)	.	.	0.999990361384395	0.932
18	44172461	C	A	18	46592498	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.G1518T:p.R506S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.G1518T:p.R506S;ENSG00000167210:ENST00000536736:exon11:c.G1518T:p.R506S;ENSG00000167210:ENST00000398722:exon4:c.G684T:p.R228S;	0.999987657515492	0.996
18	44172461	C	G	18	46592498	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.G1518C:p.R506S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.G1518C:p.R506S;ENSG00000167210:ENST00000536736:exon11:c.G1518C:p.R506S;ENSG00000167210:ENST00000398722:exon4:c.G684C:p.R228S;	0.999990830092016	0.994
18	44172461	C	T	18	46592498	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon11:c.G1518A:p.R506R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.G1518A:p.R506R;ENSG00000167210:ENST00000536736:exon11:c.G1518A:p.R506R;ENSG00000167210:ENST00000398722:exon4:c.G684A:p.R228R;	0.999993845397159	1.0
18	44172462	C	A	18	46592499	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.G1517T:p.R506M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.G1517T:p.R506M;ENSG00000167210:ENST00000536736:exon11:c.G1517T:p.R506M;ENSG00000167210:ENST00000398722:exon4:c.G683T:p.R228M;	1.56379447177187E-4	0.004
18	44172462	C	G	18	46592499	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.G1517C:p.R506T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.G1517C:p.R506T;ENSG00000167210:ENST00000536736:exon11:c.G1517C:p.R506T;ENSG00000167210:ENST00000398722:exon4:c.G683C:p.R228T;	4.14636347925437E-4	0.032
18	44172462	C	T	18	46592499	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.G1517A:p.R506K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.G1517A:p.R506K;ENSG00000167210:ENST00000536736:exon11:c.G1517A:p.R506K;ENSG00000167210:ENST00000398722:exon4:c.G683A:p.R228K;	3.86959499211645E-5	0.16
18	44172463	T	A	18	46592500	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.A1516T:p.R506W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.A1516T:p.R506W;ENSG00000167210:ENST00000536736:exon11:c.A1516T:p.R506W;ENSG00000167210:ENST00000398722:exon4:c.A682T:p.R228W;	0.991371253550483	0.748
18	44172463	T	C	18	46592500	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.A1516G:p.R506G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.A1516G:p.R506G;ENSG00000167210:ENST00000536736:exon11:c.A1516G:p.R506G;ENSG00000167210:ENST00000398722:exon4:c.A682G:p.R228G;	0.816959373968255	0.604
18	44172463	T	G	18	46592500	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon11:c.A1516C:p.R506R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.A1516C:p.R506R;ENSG00000167210:ENST00000536736:exon11:c.A1516C:p.R506R;ENSG00000167210:ENST00000398722:exon4:c.A682C:p.R228R;	0.94823779742804	0.572
18	44172546	A	C	18	46592583	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.T1433G:p.I478S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.T1433G:p.I478S;ENSG00000167210:ENST00000536736:exon11:c.T1433G:p.I478S;ENSG00000167210:ENST00000398722:exon4:c.T599G:p.I200S;	0.010734813925444	0.096
18	44172546	A	G	18	46592583	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.T1433C:p.I478T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.T1433C:p.I478T;ENSG00000167210:ENST00000536736:exon11:c.T1433C:p.I478T;ENSG00000167210:ENST00000398722:exon4:c.T599C:p.I200T;	0.00694603702822133	0.096
18	44172546	A	T	18	46592583	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.T1433A:p.I478N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.T1433A:p.I478N;ENSG00000167210:ENST00000536736:exon11:c.T1433A:p.I478N;ENSG00000167210:ENST00000398722:exon4:c.T599A:p.I200N;	0.00869704985360612	0.078
18	44172547	T	A	18	46592584	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.A1432T:p.I478F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.A1432T:p.I478F;ENSG00000167210:ENST00000536736:exon11:c.A1432T:p.I478F;ENSG00000167210:ENST00000398722:exon4:c.A598T:p.I200F;	0.00258844593053273	0.12
18	44172547	T	C	18	46592584	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.A1432G:p.I478V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.A1432G:p.I478V;ENSG00000167210:ENST00000536736:exon11:c.A1432G:p.I478V;ENSG00000167210:ENST00000398722:exon4:c.A598G:p.I200V;	5.14280608749059E-5	0.0
18	44172547	T	G	18	46592584	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon11:c.A1432C:p.I478L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon11:c.A1432C:p.I478L;ENSG00000167210:ENST00000536736:exon11:c.A1432C:p.I478L;ENSG00000167210:ENST00000398722:exon4:c.A598C:p.I200L;	0.00140903025207987	0.022
18	44172548	C	A	18	46592585	y	y	splicing	LOXHD1(NM_144612:exon12:c.1432-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.598-1G>T;ENST00000536736:exon12:c.1432-1G>T;ENST00000441551:exon12:c.1432-1G>T)	.	.	0.999990361384395	0.936
18	44172548	C	G	18	46592585	y	y	splicing	LOXHD1(NM_144612:exon12:c.1432-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.598-1G>C;ENST00000536736:exon12:c.1432-1G>C;ENST00000441551:exon12:c.1432-1G>C)	.	.	0.999990361384395	0.934
18	44172548	C	T	18	46592585	y	y	splicing	LOXHD1(NM_144612:exon12:c.1432-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.598-1G>A;ENST00000536736:exon12:c.1432-1G>A;ENST00000441551:exon12:c.1432-1G>A)	.	.	0.999990361384395	0.936
18	44172549	T	A	18	46592586	y	y	splicing	LOXHD1(NM_144612:exon12:c.1432-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.598-2A>T;ENST00000536736:exon12:c.1432-2A>T;ENST00000441551:exon12:c.1432-2A>T)	.	.	0.999978952611685	0.928
18	44172549	T	C	18	46592586	y	y	splicing	LOXHD1(NM_144612:exon12:c.1432-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.598-2A>G;ENST00000536736:exon12:c.1432-2A>G;ENST00000441551:exon12:c.1432-2A>G)	.	.	0.99994568797423	0.928
18	44172549	T	G	18	46592586	y	y	splicing	LOXHD1(NM_144612:exon12:c.1432-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon5:c.598-2A>C;ENST00000536736:exon12:c.1432-2A>C;ENST00000441551:exon12:c.1432-2A>C)	.	.	0.99994568797423	0.928
18	44172550	A	C	18	46592587	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.879955399271357	0.692
18	44172550	A	G	18	46592587	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.96026055858058E-5	0.0
18	44172550	A	T	18	46592587	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0396834356018644	0.24
18	44172551	T	A	18	46592588	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.80176446543104E-5	0.022
18	44172551	T	C	18	46592588	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.15168488546943E-5	0.002
18	44172551	T	G	18	46592588	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.09023220347581E-5	0.004
18	44172552	G	A	18	46592589	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.94954349908156E-5	0.002
18	44172552	G	C	18	46592589	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.91378578787845E-4	0.052
18	44172552	G	T	18	46592589	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.52207375568167E-4	0.092
18	44172553	G	A	18	46592590	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.97375774197798E-5	0.012
18	44172553	G	C	18	46592590	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999840373462208	0.918
18	44172553	G	T	18	46592590	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.004437621072301	0.172
18	44172554	T	A	18	46592591	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.65384719650273E-5	0.0
18	44172554	T	C	18	46592591	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.50896685644909E-5	0.0
18	44172554	T	G	18	46592591	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.64641399688721E-5	0.012
18	44172555	G	A	18	46592592	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.76862946245441E-5	0.024
18	44172555	G	C	18	46592592	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.6268577771276E-5	0.112
18	44172555	G	T	18	46592592	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.21301321593745E-4	0.1
18	44172556	A	C	18	46592593	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0541354820759555	0.28
18	44172556	A	G	18	46592593	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.89886003764428E-4	0.002
18	44172556	A	T	18	46592593	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0867677022433086	0.312
18	44172557	G	A	18	46592594	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.26848964498332E-5	0.0
18	44172557	G	C	18	46592594	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.96385511064376E-5	0.014
18	44172557	G	T	18	46592594	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.26904131416342E-4	0.004
18	44172558	A	C	18	46592595	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.37111229694365	0.566
18	44172558	A	G	18	46592595	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00356076496569731	0.222
18	44172558	A	T	18	46592595	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.692010167147285	0.598
18	44172559	A	C	18	46592596	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.04881948265515	0.464
18	44172559	A	G	18	46592596	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00271944488259399	0.128
18	44172559	A	T	18	46592596	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.127568178727665	0.52
18	44173555	T	A	18	46593592	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07256548728156E-5	0.0
18	44173555	T	C	18	46593592	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.83277102901073E-5	0.0
18	44173555	T	G	18	46593592	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.83277102901073E-5	0.002
18	44173556	C	A	18	46593593	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.71331329833832E-4	0.004
18	44173556	C	G	18	46593593	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.84615609883526E-5	0.0
18	44173556	C	T	18	46593593	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.31794876667892E-4	0.0
18	44173557	T	A	18	46593594	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.28647147598196E-5	0.024
18	44173557	T	C	18	46593594	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.81344793541924E-4	0.052
18	44173557	T	G	18	46593594	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.62811064769129E-5	0.018
18	44173558	C	A	18	46593595	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999979070270835	0.992
18	44173558	C	G	18	46593595	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999979070270835	0.998
18	44173558	C	T	18	46593595	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999986607558677	1.0
18	44173559	C	A	18	46593596	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.79608873279068E-4	0.072
18	44173559	C	G	18	46593596	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00194689144286891	0.168
18	44173559	C	T	18	46593596	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.74539033054742E-4	0.106
18	44173560	T	A	18	46593597	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998896423623528	0.924
18	44173560	T	C	18	46593597	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.95816290598431	0.794
18	44173560	T	G	18	46593597	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999059450443661	0.91
18	44173561	A	C	18	46593598	y	y	splicing	LOXHD1(NM_144612:exon11:c.1431+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.597+2T>G;ENST00000536736:exon11:c.1431+2T>G;ENST00000441551:exon11:c.1431+2T>G)	.	.	0.999976254090479	0.926
18	44173561	A	G	18	46593598	y	y	splicing	LOXHD1(NM_144612:exon11:c.1431+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.597+2T>C;ENST00000536736:exon11:c.1431+2T>C;ENST00000441551:exon11:c.1431+2T>C)	.	.	0.999767496460557	0.874
18	44173561	A	T	18	46593598	y	y	splicing	LOXHD1(NM_144612:exon11:c.1431+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.597+2T>A;ENST00000536736:exon11:c.1431+2T>A;ENST00000441551:exon11:c.1431+2T>A)	.	.	0.999976254090479	0.928
18	44173562	C	A	18	46593599	y	y	splicing	LOXHD1(NM_144612:exon11:c.1431+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.597+1G>T;ENST00000536736:exon11:c.1431+1G>T;ENST00000441551:exon11:c.1431+1G>T)	.	.	0.999987670894945	0.938
18	44173562	C	G	18	46593599	y	y	splicing	LOXHD1(NM_144612:exon11:c.1431+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.597+1G>C;ENST00000536736:exon11:c.1431+1G>C;ENST00000441551:exon11:c.1431+1G>C)	.	.	0.999987670894945	0.938
18	44173562	C	T	18	46593599	y	y	splicing	LOXHD1(NM_144612:exon11:c.1431+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.597+1G>A;ENST00000536736:exon11:c.1431+1G>A;ENST00000441551:exon11:c.1431+1G>A)	.	.	0.999987670894945	0.938
18	44173563	C	A	18	46593600	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.G1431T:p.R477S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.G1431T:p.R477S;ENSG00000167210:ENST00000536736:exon10:c.G1431T:p.R477S;ENSG00000167210:ENST00000398722:exon3:c.G597T:p.R199S;	0.999966976958054	0.998
18	44173563	C	G	18	46593600	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.G1431C:p.R477S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.G1431C:p.R477S;ENSG00000167210:ENST00000536736:exon10:c.G1431C:p.R477S;ENSG00000167210:ENST00000398722:exon3:c.G597C:p.R199S;	0.9999822071817	1.0
18	44173563	C	T	18	46593600	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon10:c.G1431A:p.R477R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.G1431A:p.R477R;ENSG00000167210:ENST00000536736:exon10:c.G1431A:p.R477R;ENSG00000167210:ENST00000398722:exon3:c.G597A:p.R199R;	0.999968877046283	0.986
18	44173564	C	A	18	46593601	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.G1430T:p.R477M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.G1430T:p.R477M;ENSG00000167210:ENST00000536736:exon10:c.G1430T:p.R477M;ENSG00000167210:ENST00000398722:exon3:c.G596T:p.R199M;	2.76851237428807E-4	0.008
18	44173564	C	G	18	46593601	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.G1430C:p.R477T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.G1430C:p.R477T;ENSG00000167210:ENST00000536736:exon10:c.G1430C:p.R477T;ENSG00000167210:ENST00000398722:exon3:c.G596C:p.R199T;	9.82436202261705E-5	0.012
18	44173564	C	T	18	46593601	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.G1430A:p.R477K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.G1430A:p.R477K;ENSG00000167210:ENST00000536736:exon10:c.G1430A:p.R477K;ENSG00000167210:ENST00000398722:exon3:c.G596A:p.R199K;	1.6401481045186E-4	0.032
18	44173565	T	A	18	46593602	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.A1429T:p.R477W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1429T:p.R477W;ENSG00000167210:ENST00000536736:exon10:c.A1429T:p.R477W;ENSG00000167210:ENST00000398722:exon3:c.A595T:p.R199W;	0.00324465620370995	0.366
18	44173565	T	C	18	46593602	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.A1429G:p.R477G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1429G:p.R477G;ENSG00000167210:ENST00000536736:exon10:c.A1429G:p.R477G;ENSG00000167210:ENST00000398722:exon3:c.A595G:p.R199G;	0.00666692007246491	0.152
18	44173565	T	G	18	46593602	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon10:c.A1429C:p.R477R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1429C:p.R477R;ENSG00000167210:ENST00000536736:exon10:c.A1429C:p.R477R;ENSG00000167210:ENST00000398722:exon3:c.A595C:p.R199R;	1.63515905921821E-4	0.002
18	44173722	T	A	18	46593759	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.A1272T:p.K424N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1272T:p.K424N;ENSG00000167210:ENST00000536736:exon10:c.A1272T:p.K424N;ENSG00000167210:ENST00000398722:exon3:c.A438T:p.K146N;	4.31964003137947E-5	0.056
18	44173722	T	C	18	46593759	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon10:c.A1272G:p.K424K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1272G:p.K424K;ENSG00000167210:ENST00000536736:exon10:c.A1272G:p.K424K;ENSG00000167210:ENST00000398722:exon3:c.A438G:p.K146K;	7.42031991641341E-5	0.04
18	44173722	T	G	18	46593759	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.A1272C:p.K424N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1272C:p.K424N;ENSG00000167210:ENST00000536736:exon10:c.A1272C:p.K424N;ENSG00000167210:ENST00000398722:exon3:c.A438C:p.K146N;	4.69143539204805E-4	0.03
18	44173723	T	A	18	46593760	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.A1271T:p.K424I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1271T:p.K424I;ENSG00000167210:ENST00000536736:exon10:c.A1271T:p.K424I;ENSG00000167210:ENST00000398722:exon3:c.A437T:p.K146I;	0.813080759003254	0.58
18	44173723	T	C	18	46593760	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.A1271G:p.K424R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1271G:p.K424R;ENSG00000167210:ENST00000536736:exon10:c.A1271G:p.K424R;ENSG00000167210:ENST00000398722:exon3:c.A437G:p.K146R;	0.0246606007657348	0.2
18	44173723	T	G	18	46593760	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon10:c.A1271C:p.K424T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon10:c.A1271C:p.K424T;ENSG00000167210:ENST00000536736:exon10:c.A1271C:p.K424T;ENSG00000167210:ENST00000398722:exon3:c.A437C:p.K146T;	0.293848081511031	0.362
18	44173724	C	A	18	46593761	y	y	splicing	LOXHD1(NM_144612:exon11:c.1271-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.437-1G>T;ENST00000536736:exon11:c.1271-1G>T;ENST00000441551:exon11:c.1271-1G>T)	.	.	0.999992425382947	0.944
18	44173724	C	G	18	46593761	y	y	splicing	LOXHD1(NM_144612:exon11:c.1271-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.437-1G>C;ENST00000536736:exon11:c.1271-1G>C;ENST00000441551:exon11:c.1271-1G>C)	.	.	0.999992425382947	0.944
18	44173724	C	T	18	46593761	y	y	splicing	LOXHD1(NM_144612:exon11:c.1271-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.437-1G>A;ENST00000536736:exon11:c.1271-1G>A;ENST00000441551:exon11:c.1271-1G>A)	.	.	0.999992425382947	0.944
18	44173725	T	A	18	46593762	y	y	splicing	LOXHD1(NM_144612:exon11:c.1271-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.437-2A>T;ENST00000536736:exon11:c.1271-2A>T;ENST00000441551:exon11:c.1271-2A>T)	.	.	0.999990764389106	0.946
18	44173725	T	C	18	46593762	y	y	splicing	LOXHD1(NM_144612:exon11:c.1271-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.437-2A>G;ENST00000536736:exon11:c.1271-2A>G;ENST00000441551:exon11:c.1271-2A>G)	.	.	0.999990764389106	0.946
18	44173725	T	G	18	46593762	y	y	splicing	LOXHD1(NM_144612:exon11:c.1271-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon4:c.437-2A>C;ENST00000536736:exon11:c.1271-2A>C;ENST00000441551:exon11:c.1271-2A>C)	.	.	0.999990764389106	0.946
18	44173726	G	A	18	46593763	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.35814397588461E-4	0.062
18	44173726	G	C	18	46593763	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994496036205217	0.64
18	44173726	G	T	18	46593763	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.658671121772761	0.486
18	44173727	T	A	18	46593764	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.27390800316386E-5	0.0
18	44173727	T	C	18	46593764	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.05209780163486E-4	0.008
18	44173727	T	G	18	46593764	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.34175604113105E-5	0.0
18	44173728	A	C	18	46593765	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.1315707420006	0.338
18	44173728	A	G	18	46593765	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.34191639141146E-4	0.074
18	44173728	A	T	18	46593765	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0550173186015306	0.376
18	44173729	A	C	18	46593766	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.992359057491532	0.654
18	44173729	A	G	18	46593766	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00392743113484105	0.162
18	44173729	A	T	18	46593766	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.975920628201549	0.618
18	44173730	G	A	18	46593767	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.28815572221318E-4	0.01
18	44173730	G	C	18	46593767	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.86782850030516E-4	0.108
18	44173730	G	T	18	46593767	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00407863636860759	0.114
18	44173731	A	C	18	46593768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.253394610966753	0.492
18	44173731	A	G	18	46593768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.00089978260354E-4	0.06
18	44173731	A	T	18	46593768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.541186880866654	0.566
18	44173732	C	A	18	46593769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.58817863516013E-4	0.032
18	44173732	C	G	18	46593769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.31625192794854E-4	0.018
18	44173732	C	T	18	46593769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00101910407378102	0.074
18	44173733	A	C	18	46593770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.805197420724554	0.538
18	44173733	A	G	18	46593770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0333365428486078	0.204
18	44173733	A	T	18	46593770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999963647658407	0.968
18	44173734	G	A	18	46593771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.09609524109026E-4	0.058
18	44173734	G	C	18	46593771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.080482294694655	0.266
18	44173734	G	T	18	46593771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0614976956595584	0.342
18	44173735	A	C	18	46593772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.992079720516495	0.884
18	44173735	A	G	18	46593772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.86193592297187E-4	0.042
18	44173735	A	T	18	46593772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00181871395426686	0.128
18	44174286	T	A	18	46594323	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.66579566323271E-5	0.0
18	44174286	T	C	18	46594323	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.5732183902016E-5	0.002
18	44174286	T	G	18	46594323	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.5732183902016E-5	0.0
18	44174287	C	A	18	46594324	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.32865407515543E-5	0.0
18	44174287	C	G	18	46594324	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.44454674516076E-5	0.0
18	44174287	C	T	18	46594324	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.90799902613849E-5	0.0
18	44174288	A	C	18	46594325	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00541803123993646	0.194
18	44174288	A	G	18	46594325	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0262871035448898	0.152
18	44174288	A	T	18	46594325	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0528817800205365	0.224
18	44174289	C	A	18	46594326	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999486878023526	0.872
18	44174289	C	G	18	46594326	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995787223812509	0.79
18	44174289	C	T	18	46594326	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.982425826244579	0.908
18	44174290	T	A	18	46594327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.424641381294907	0.432
18	44174290	T	C	18	46594327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.437313006212608	0.494
18	44174290	T	G	18	46594327	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.446434042195388	0.322
18	44174291	T	A	18	46594328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.986756945203772	0.756
18	44174291	T	C	18	46594328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.176043421473882	0.3
18	44174291	T	G	18	46594328	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999509490398968	0.86
18	44174292	A	C	18	46594329	y	y	splicing	LOXHD1(NM_144612:exon10:c.1270+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.436+2T>G;ENST00000536736:exon10:c.1270+2T>G;ENST00000441551:exon10:c.1270+2T>G)	.	.	0.999988247793601	0.926
18	44174292	A	G	18	46594329	y	y	splicing	LOXHD1(NM_144612:exon10:c.1270+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.436+2T>C;ENST00000536736:exon10:c.1270+2T>C;ENST00000441551:exon10:c.1270+2T>C)	.	.	0.98918007292081	0.632
18	44174292	A	T	18	46594329	y	y	splicing	LOXHD1(NM_144612:exon10:c.1270+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.436+2T>A;ENST00000536736:exon10:c.1270+2T>A;ENST00000441551:exon10:c.1270+2T>A)	.	.	0.999988247793601	0.914
18	44174293	C	A	18	46594330	y	y	splicing	LOXHD1(NM_144612:exon10:c.1270+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.436+1G>T;ENST00000536736:exon10:c.1270+1G>T;ENST00000441551:exon10:c.1270+1G>T)	.	.	0.999981760802075	0.936
18	44174293	C	G	18	46594330	y	y	splicing	LOXHD1(NM_144612:exon10:c.1270+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.436+1G>C;ENST00000536736:exon10:c.1270+1G>C;ENST00000441551:exon10:c.1270+1G>C)	.	.	0.999981760802075	0.936
18	44174293	C	T	18	46594330	y	y	splicing	LOXHD1(NM_144612:exon10:c.1270+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.436+1G>A;ENST00000536736:exon10:c.1270+1G>A;ENST00000441551:exon10:c.1270+1G>A)	.	.	0.999981760802075	0.936
18	44174294	T	A	18	46594331	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon9:c.A1270T:p.K424X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon9:c.A1270T:p.K424X;ENSG00000167210:ENST00000536736:exon9:c.A1270T:p.K424X;ENSG00000167210:ENST00000398722:exon2:c.A436T:p.K146X;	0.806688768771331	0.766
18	44174294	T	C	18	46594331	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.A1270G:p.K424E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.A1270G:p.K424E;ENSG00000167210:ENST00000536736:exon9:c.A1270G:p.K424E;ENSG00000167210:ENST00000398722:exon2:c.A436G:p.K146E;	0.00144901812979811	0.048
18	44174294	T	G	18	46594331	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.A1270C:p.K424Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.A1270C:p.K424Q;ENSG00000167210:ENST00000536736:exon9:c.A1270C:p.K424Q;ENSG00000167210:ENST00000398722:exon2:c.A436C:p.K146Q;	0.106002823025587	0.15
18	44174295	T	A	18	46594332	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.A1269T:p.K423N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.A1269T:p.K423N;ENSG00000167210:ENST00000536736:exon9:c.A1269T:p.K423N;ENSG00000167210:ENST00000398722:exon2:c.A435T:p.K145N;	0.221143463985989	0.514
18	44174295	T	C	18	46594332	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon9:c.A1269G:p.K423K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.A1269G:p.K423K;ENSG00000167210:ENST00000536736:exon9:c.A1269G:p.K423K;ENSG00000167210:ENST00000398722:exon2:c.A435G:p.K145K;	0.258911715051903	0.254
18	44174295	T	G	18	46594332	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.A1269C:p.K423N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.A1269C:p.K423N;ENSG00000167210:ENST00000536736:exon9:c.A1269C:p.K423N;ENSG00000167210:ENST00000398722:exon2:c.A435C:p.K145N;	0.094869799219548	0.512
18	44174296	T	A	18	46594333	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.A1268T:p.K423I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.A1268T:p.K423I;ENSG00000167210:ENST00000536736:exon9:c.A1268T:p.K423I;ENSG00000167210:ENST00000398722:exon2:c.A434T:p.K145I;	0.568535561185008	0.506
18	44174296	T	C	18	46594333	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.A1268G:p.K423R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.A1268G:p.K423R;ENSG00000167210:ENST00000536736:exon9:c.A1268G:p.K423R;ENSG00000167210:ENST00000398722:exon2:c.A434G:p.K145R;	0.0612359320674135	0.218
18	44174296	T	G	18	46594333	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.A1268C:p.K423T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.A1268C:p.K423T;ENSG00000167210:ENST00000536736:exon9:c.A1268C:p.K423T;ENSG00000167210:ENST00000398722:exon2:c.A434C:p.K145T;	0.00212150957534323	0.026
18	44174428	A	C	18	46594465	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.T1136G:p.V379G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.T1136G:p.V379G;ENSG00000167210:ENST00000536736:exon9:c.T1136G:p.V379G;ENSG00000167210:ENST00000398722:exon2:c.T302G:p.V101G;	0.00384989843973729	0.074
18	44174428	A	G	18	46594465	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.T1136C:p.V379A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.T1136C:p.V379A;ENSG00000167210:ENST00000536736:exon9:c.T1136C:p.V379A;ENSG00000167210:ENST00000398722:exon2:c.T302C:p.V101A;	0.0297451502794176	0.164
18	44174428	A	T	18	46594465	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.T1136A:p.V379E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.T1136A:p.V379E;ENSG00000167210:ENST00000536736:exon9:c.T1136A:p.V379E;ENSG00000167210:ENST00000398722:exon2:c.T302A:p.V101E;	0.0202474673617386	0.158
18	44174429	C	A	18	46594466	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.G1135T:p.V379L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.G1135T:p.V379L;ENSG00000167210:ENST00000536736:exon9:c.G1135T:p.V379L;ENSG00000167210:ENST00000398722:exon2:c.G301T:p.V101L;	0.836178835047878	0.722
18	44174429	C	G	18	46594466	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.G1135C:p.V379L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.G1135C:p.V379L;ENSG00000167210:ENST00000536736:exon9:c.G1135C:p.V379L;ENSG00000167210:ENST00000398722:exon2:c.G301C:p.V101L;	0.897816652029044	0.776
18	44174429	C	T	18	46594466	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon9:c.G1135A:p.V379M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon9:c.G1135A:p.V379M;ENSG00000167210:ENST00000536736:exon9:c.G1135A:p.V379M;ENSG00000167210:ENST00000398722:exon2:c.G301A:p.V101M;	0.658899323263558	0.554
18	44174430	C	A	18	46594467	y	y	splicing	LOXHD1(NM_144612:exon10:c.1135-1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.301-1G>T;ENST00000536736:exon10:c.1135-1G>T;ENST00000441551:exon10:c.1135-1G>T)	.	.	0.999938422912956	0.956
18	44174430	C	G	18	46594467	y	y	splicing	LOXHD1(NM_144612:exon10:c.1135-1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.301-1G>C;ENST00000536736:exon10:c.1135-1G>C;ENST00000441551:exon10:c.1135-1G>C)	.	.	0.999938990645747	0.956
18	44174430	C	T	18	46594467	y	y	splicing	LOXHD1(NM_144612:exon10:c.1135-1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.301-1G>A;ENST00000536736:exon10:c.1135-1G>A;ENST00000441551:exon10:c.1135-1G>A)	.	.	0.999938422912956	0.956
18	44174431	T	A	18	46594468	y	y	splicing	LOXHD1(NM_144612:exon10:c.1135-2A>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.301-2A>T;ENST00000536736:exon10:c.1135-2A>T;ENST00000441551:exon10:c.1135-2A>T)	.	.	0.999966514958823	0.946
18	44174431	T	C	18	46594468	y	y	splicing	LOXHD1(NM_144612:exon10:c.1135-2A>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.301-2A>G;ENST00000536736:exon10:c.1135-2A>G;ENST00000441551:exon10:c.1135-2A>G)	.	.	0.999966514958823	0.932
18	44174431	T	G	18	46594468	y	y	splicing	LOXHD1(NM_144612:exon10:c.1135-2A>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon3:c.301-2A>C;ENST00000536736:exon10:c.1135-2A>C;ENST00000441551:exon10:c.1135-2A>C)	.	.	0.999966514958823	0.924
18	44174432	G	A	18	46594469	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.64373920563441E-4	0.052
18	44174432	G	C	18	46594469	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99776449630224	0.938
18	44174432	G	T	18	46594469	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.470466985359553	0.592
18	44174433	G	A	18	46594470	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.43877229498206E-5	0.002
18	44174433	G	C	18	46594470	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.90406388937939E-5	0.002
18	44174433	G	T	18	46594470	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.5693407498698E-5	0.002
18	44174434	G	A	18	46594471	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.84703211506515E-5	0.002
18	44174434	G	C	18	46594471	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.22013236188911E-4	0.066
18	44174434	G	T	18	46594471	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.38290664162494E-4	0.042
18	44174435	G	A	18	46594472	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.3041441306221E-5	0.002
18	44174435	G	C	18	46594472	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00150655875718898	0.076
18	44174435	G	T	18	46594472	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.11408724358578E-4	0.056
18	44174436	A	C	18	46594473	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0104040977561852	0.062
18	44174436	A	G	18	46594473	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.50513615465016E-4	0.02
18	44174436	A	T	18	46594473	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00826967773272866	0.064
18	44174437	G	A	18	46594474	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.88818688165905E-5	0.0
18	44174437	G	C	18	46594474	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00581963272362822	0.058
18	44174437	G	T	18	46594474	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.84649333839848E-4	0.034
18	44174438	A	C	18	46594475	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0022946090849845	0.148
18	44174438	A	G	18	46594475	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.49337793892903E-4	0.102
18	44174438	A	T	18	46594475	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00184676299172929	0.106
18	44174439	G	A	18	46594476	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.23175287637358E-4	0.0
18	44174439	G	C	18	46594476	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999727164766811	0.958
18	44174439	G	T	18	46594476	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00795920058681515	0.094
18	44174440	T	A	18	46594477	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.16921366580605E-5	0.014
18	44174440	T	C	18	46594477	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.42655960896921E-5	0.004
18	44174440	T	G	18	46594477	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.85614267865392E-5	0.002
18	44174441	G	A	18	46594478	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.53521654991425E-5	0.008
18	44174441	G	C	18	46594478	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00203086907801073	0.208
18	44174441	G	T	18	46594478	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00183822324805072	0.192
18	44181172	T	A	18	46601209	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.91219527972473E-5	0.0
18	44181172	T	C	18	46601209	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.73324507997706E-5	0.0
18	44181172	T	G	18	46601209	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.87689206628025E-4	0.002
18	44181173	C	A	18	46601210	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.73162692821292E-5	0.0
18	44181173	C	G	18	46601210	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.41660416073757E-5	0.0
18	44181173	C	T	18	46601210	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.41660416073757E-5	0.0
18	44181174	C	A	18	46601211	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.82556445218688E-5	0.008
18	44181174	C	G	18	46601211	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00195962946340979	0.018
18	44181174	C	T	18	46601211	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.20696394386663E-4	0.002
18	44181175	C	A	18	46601212	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.895053408042618	0.53
18	44181175	C	G	18	46601212	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.758787791417225	0.576
18	44181175	C	T	18	46601212	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.966285961880299	0.58
18	44181176	T	A	18	46601213	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.826431162423877	0.496
18	44181176	T	C	18	46601213	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.936149094703548	0.548
18	44181176	T	G	18	46601213	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.285648298300316	0.39
18	44181177	T	A	18	46601214	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.995805482297713	0.894
18	44181177	T	C	18	46601214	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00903333581158748	0.316
18	44181177	T	G	18	46601214	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994009587993595	0.856
18	44181178	A	C	18	46601215	y	y	splicing	LOXHD1(NM_144612:exon9:c.1134+2T>G)	.	.	splicing	ENSG00000167210(ENST00000398722:exon2:c.300+2T>G;ENST00000536736:exon9:c.1134+2T>G;ENST00000441551:exon9:c.1134+2T>G)	.	.	0.999989917668626	0.928
18	44181178	A	G	18	46601215	y	y	splicing	LOXHD1(NM_144612:exon9:c.1134+2T>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon2:c.300+2T>C;ENST00000536736:exon9:c.1134+2T>C;ENST00000441551:exon9:c.1134+2T>C)	.	.	0.991781671885672	0.62
18	44181178	A	T	18	46601215	y	y	splicing	LOXHD1(NM_144612:exon9:c.1134+2T>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon2:c.300+2T>A;ENST00000536736:exon9:c.1134+2T>A;ENST00000441551:exon9:c.1134+2T>A)	.	.	0.999989917668626	0.928
18	44181179	C	A	18	46601216	y	y	splicing	LOXHD1(NM_144612:exon9:c.1134+1G>T)	.	.	splicing	ENSG00000167210(ENST00000398722:exon2:c.300+1G>T;ENST00000536736:exon9:c.1134+1G>T;ENST00000441551:exon9:c.1134+1G>T)	.	.	0.999986675681007	0.934
18	44181179	C	G	18	46601216	y	y	splicing	LOXHD1(NM_144612:exon9:c.1134+1G>C)	.	.	splicing	ENSG00000167210(ENST00000398722:exon2:c.300+1G>C;ENST00000536736:exon9:c.1134+1G>C;ENST00000441551:exon9:c.1134+1G>C)	.	.	0.999986675681007	0.934
18	44181179	C	T	18	46601216	y	y	splicing	LOXHD1(NM_144612:exon9:c.1134+1G>A)	.	.	splicing	ENSG00000167210(ENST00000398722:exon2:c.300+1G>A;ENST00000536736:exon9:c.1134+1G>A;ENST00000441551:exon9:c.1134+1G>A)	.	.	0.999986675681007	0.934
18	44181180	C	A	18	46601217	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.G1134T:p.K378N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.G1134T:p.K378N;ENSG00000167210:ENST00000536736:exon8:c.G1134T:p.K378N;ENSG00000167210:ENST00000398722:exon1:c.G300T:p.K100N;	0.999097112299371	0.962
18	44181180	C	G	18	46601217	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.G1134C:p.K378N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.G1134C:p.K378N;ENSG00000167210:ENST00000536736:exon8:c.G1134C:p.K378N;ENSG00000167210:ENST00000398722:exon1:c.G300C:p.K100N;	0.999312026761864	0.936
18	44181180	C	T	18	46601217	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon8:c.G1134A:p.K378K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.G1134A:p.K378K;ENSG00000167210:ENST00000536736:exon8:c.G1134A:p.K378K;ENSG00000167210:ENST00000398722:exon1:c.G300A:p.K100K;	0.999099230162841	0.912
18	44181181	T	A	18	46601218	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.A1133T:p.K378M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.A1133T:p.K378M;ENSG00000167210:ENST00000536736:exon8:c.A1133T:p.K378M;ENSG00000167210:ENST00000398722:exon1:c.A299T:p.K100M;	0.982631951708393	0.704
18	44181181	T	C	18	46601218	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.A1133G:p.K378R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.A1133G:p.K378R;ENSG00000167210:ENST00000536736:exon8:c.A1133G:p.K378R;ENSG00000167210:ENST00000398722:exon1:c.A299G:p.K100R;	0.99408706994988	0.928
18	44181181	T	G	18	46601218	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.A1133C:p.K378T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.A1133C:p.K378T;ENSG00000167210:ENST00000536736:exon8:c.A1133C:p.K378T;ENSG00000167210:ENST00000398722:exon1:c.A299C:p.K100T;	0.973446878870147	0.85
18	44181182	T	A	18	46601219	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon8:c.A1132T:p.K378X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon8:c.A1132T:p.K378X;ENSG00000167210:ENST00000536736:exon8:c.A1132T:p.K378X;ENSG00000167210:ENST00000398722:exon1:c.A298T:p.K100X;	0.872601703641529	0.618
18	44181182	T	C	18	46601219	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.A1132G:p.K378E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.A1132G:p.K378E;ENSG00000167210:ENST00000536736:exon8:c.A1132G:p.K378E;ENSG00000167210:ENST00000398722:exon1:c.A298G:p.K100E;	0.0462896104297392	0.302
18	44181182	T	G	18	46601219	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.A1132C:p.K378Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.A1132C:p.K378Q;ENSG00000167210:ENST00000536736:exon8:c.A1132C:p.K378Q;ENSG00000167210:ENST00000398722:exon1:c.A298C:p.K100Q;	0.111052315404063	0.372
18	44181429	A	C	18	46601466	y	n	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon8:c.T885G:p.A295A;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.T885G:p.A295A;ENSG00000167210:ENST00000536736:exon8:c.T885G:p.A295A;ENSG00000167210:ENST00000398722:exon1:c.T51G:p.A17A;	2.2562038020866E-4	0.172
18	44181429	A	G	18	46601466	y	n	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon8:c.T885C:p.A295A;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.T885C:p.A295A;ENSG00000167210:ENST00000536736:exon8:c.T885C:p.A295A;ENSG00000167210:ENST00000398722:exon1:c.T51C:p.A17A;	3.08613059606843E-4	0.214
18	44181429	A	T	18	46601466	y	n	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon8:c.T885A:p.A295A;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.T885A:p.A295A;ENSG00000167210:ENST00000536736:exon8:c.T885A:p.A295A;ENSG00000167210:ENST00000398722:exon1:c.T51A:p.A17A;	5.96014252652176E-4	0.214
18	44181430	G	A	18	46601467	y	n	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.C884T:p.A295V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.C884T:p.A295V;ENSG00000167210:ENST00000536736:exon8:c.C884T:p.A295V;ENSG00000167210:ENST00000398722:exon1:c.C50T:p.A17V;	0.0596786115348458	0.31
18	44181430	G	C	18	46601467	y	n	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.C884G:p.A295G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.C884G:p.A295G;ENSG00000167210:ENST00000536736:exon8:c.C884G:p.A295G;ENSG00000167210:ENST00000398722:exon1:c.C50G:p.A17G;	0.00310887061808561	0.094
18	44181430	G	T	18	46601467	y	n	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon8:c.C884A:p.A295D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon8:c.C884A:p.A295D;ENSG00000167210:ENST00000536736:exon8:c.C884A:p.A295D;ENSG00000167210:ENST00000398722:exon1:c.C50A:p.A17D;	0.00245139958522798	0.056
18	44181431	C	A	18	46601468	y	n	splicing	LOXHD1(NM_144612:exon9:c.884-1G>T)	.	.	exonic;splicing	ENSG00000167210;ENSG00000167210(ENST00000536736:exon9:c.884-1G>T;ENST00000441551:exon9:c.884-1G>T)	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.G49T:p.A17S;	0.999954182014857	0.914
18	44181431	C	G	18	46601468	y	n	splicing	LOXHD1(NM_144612:exon9:c.884-1G>C)	.	.	exonic;splicing	ENSG00000167210;ENSG00000167210(ENST00000536736:exon9:c.884-1G>C;ENST00000441551:exon9:c.884-1G>C)	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.G49C:p.A17P;	0.999954182014857	0.912
18	44181431	C	T	18	46601468	y	n	splicing	LOXHD1(NM_144612:exon9:c.884-1G>A)	.	.	exonic;splicing	ENSG00000167210;ENSG00000167210(ENST00000536736:exon9:c.884-1G>A;ENST00000441551:exon9:c.884-1G>A)	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.G49A:p.A17T;	0.999982244376005	0.914
18	44181432	T	A	18	46601469	y	n	splicing	LOXHD1(NM_144612:exon9:c.884-2A>T)	.	.	exonic;splicing	ENSG00000167210;ENSG00000167210(ENST00000536736:exon9:c.884-2A>T;ENST00000441551:exon9:c.884-2A>T)	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A48T:p.P16P;	0.999984339322171	0.916
18	44181432	T	C	18	46601469	y	n	splicing	LOXHD1(NM_144612:exon9:c.884-2A>G)	.	.	exonic;splicing	ENSG00000167210;ENSG00000167210(ENST00000536736:exon9:c.884-2A>G;ENST00000441551:exon9:c.884-2A>G)	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A48G:p.P16P;	0.999959587842131	0.914
18	44181432	T	G	18	46601469	y	n	splicing	LOXHD1(NM_144612:exon9:c.884-2A>C)	.	.	exonic;splicing	ENSG00000167210;ENSG00000167210(ENST00000536736:exon9:c.884-2A>C;ENST00000441551:exon9:c.884-2A>C)	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A48C:p.P16P;	0.999959587842131	0.914
18	44181433	G	A	18	46601470	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C47T:p.P16L;	0.799363533923958	0.522
18	44181433	G	C	18	46601470	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C47G:p.P16R;	0.99985185929707	0.948
18	44181433	G	T	18	46601470	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C47A:p.P16Q;	0.998193871667667	0.956
18	44181434	G	A	18	46601471	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C46T:p.P16S;	5.95091054534378E-4	0.182
18	44181434	G	C	18	46601471	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C46G:p.P16A;	0.857400811569557	0.576
18	44181434	G	T	18	46601471	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C46A:p.P16T;	8.11402673852506E-5	0.034
18	44181435	T	A	18	46601472	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A45T:p.T15T;	7.74869822547991E-5	0.052
18	44181435	T	C	18	46601472	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A45G:p.T15T;	1.04952766005208E-4	0.05
18	44181435	T	G	18	46601472	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A45C:p.T15T;	7.74869822547991E-5	0.06
18	44181436	G	A	18	46601473	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C44T:p.T15I;	2.11867439399418E-4	0.148
18	44181436	G	C	18	46601473	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C44G:p.T15R;	0.999944421328522	0.932
18	44181436	G	T	18	46601473	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C44A:p.T15K;	0.0019977097044526	0.3
18	44181437	T	A	18	46601474	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A43T:p.T15S;	4.53607585345307E-4	0.088
18	44181437	T	C	18	46601474	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A43G:p.T15A;	2.38534539128092E-4	0.09
18	44181437	T	G	18	46601474	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.A43C:p.T15P;	4.17245991348623E-5	0.172
18	44181438	G	A	18	46601475	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C42T:p.S14S;	2.47036413229129E-4	0.004
18	44181438	G	C	18	46601475	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C42G:p.S14S;	0.0156306526665214	0.142
18	44181438	G	T	18	46601475	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C42A:p.S14S;	0.00817437560217557	0.08
18	44181439	G	A	18	46601476	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C41T:p.S14F;	3.10628494899419E-4	0.084
18	44181439	G	C	18	46601476	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C41G:p.S14C;	0.0299746960682855	0.226
18	44181439	G	T	18	46601476	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.C41A:p.S14Y;	0.137448310786957	0.266
18	44181440	A	C	18	46601477	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T40G:p.S14A;	0.660618366709126	0.54
18	44181440	A	G	18	46601477	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T40C:p.S14P;	0.00282013786165147	0.136
18	44181440	A	T	18	46601477	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T40A:p.S14T;	0.301931382015245	0.446
18	44181441	A	C	18	46601478	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T39G:p.V13V;	0.273631512454853	0.642
18	44181441	A	G	18	46601478	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T39C:p.V13V;	3.81838026025687E-4	0.064
18	44181441	A	T	18	46601478	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T39A:p.V13V;	0.717548904016825	0.626
18	44181442	A	C	18	46601479	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T38G:p.V13G;	0.888417171388325	0.602
18	44181442	A	G	18	46601479	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T38C:p.V13A;	0.0128735953489626	0.266
18	44181442	A	T	18	46601479	y	n	intronic	LOXHD1	.	.	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000398722:exon1:c.T38A:p.V13D;	0.866279933593528	0.666
18	44184061	A	C	18	46604098	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00101627087289309	0.026
18	44184061	A	G	18	46604098	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.1432654998204E-4	0.008
18	44184061	A	T	18	46604098	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.90935794971038E-5	0.026
18	44184062	A	C	18	46604099	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.29581320696264E-5	0.01
18	44184062	A	G	18	46604099	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.96323034491673E-5	0.0
18	44184062	A	T	18	46604099	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.96323034491673E-5	0.0
18	44184063	A	C	18	46604100	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.01053601666318E-5	0.064
18	44184063	A	G	18	46604100	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.88628584427348E-4	0.1
18	44184063	A	T	18	46604100	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.79405409611188E-4	0.064
18	44184064	T	A	18	46604101	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.19068627782018E-4	0.022
18	44184064	T	C	18	46604101	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.55620653981271E-4	0.096
18	44184064	T	G	18	46604101	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.15437152322189E-4	0.072
18	44184065	C	A	18	46604102	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.28640126647669E-5	0.008
18	44184065	C	G	18	46604102	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.26065943209897E-5	0.016
18	44184065	C	T	18	46604102	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.05894763732333E-5	0.024
18	44184066	T	A	18	46604103	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997222774535543	0.866
18	44184066	T	C	18	46604103	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.972039822482912	0.836
18	44184066	T	G	18	46604103	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99951109244948	0.986
18	44184067	A	C	18	46604104	y	y	splicing	LOXHD1(NM_144612:exon8:c.883+2T>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.883+2T>G;ENST00000441551:exon8:c.883+2T>G)	.	.	0.999988247793601	0.928
18	44184067	A	G	18	46604104	y	y	splicing	LOXHD1(NM_144612:exon8:c.883+2T>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.883+2T>C;ENST00000441551:exon8:c.883+2T>C)	.	.	0.985752408902503	0.628
18	44184067	A	T	18	46604104	y	y	splicing	LOXHD1(NM_144612:exon8:c.883+2T>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.883+2T>A;ENST00000441551:exon8:c.883+2T>A)	.	.	0.999988247793601	0.928
18	44184068	C	A	18	46604105	y	y	splicing	LOXHD1(NM_144612:exon8:c.883+1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.883+1G>T;ENST00000441551:exon8:c.883+1G>T)	.	.	0.999989072007339	0.934
18	44184068	C	G	18	46604105	y	y	splicing	LOXHD1(NM_144612:exon8:c.883+1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.883+1G>C;ENST00000441551:exon8:c.883+1G>C)	.	.	0.999989072007339	0.934
18	44184068	C	T	18	46604105	y	y	splicing	LOXHD1(NM_144612:exon8:c.883+1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.883+1G>A;ENST00000441551:exon8:c.883+1G>A)	.	.	0.999989072007339	0.934
18	44184069	C	A	18	46604106	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.G883T:p.A295S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.G883T:p.A295S;ENSG00000167210:ENST00000536736:exon7:c.G883T:p.A295S;	0.999988630814277	1.0
18	44184069	C	G	18	46604106	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.G883C:p.A295P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.G883C:p.A295P;ENSG00000167210:ENST00000536736:exon7:c.G883C:p.A295P;	0.99999471842731	0.998
18	44184069	C	T	18	46604106	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.G883A:p.A295T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.G883A:p.A295T;ENSG00000167210:ENST00000536736:exon7:c.G883A:p.A295T;	0.999994616048965	1.0
18	44184070	T	A	18	46604107	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon7:c.A882T:p.T294T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.A882T:p.T294T;ENSG00000167210:ENST00000536736:exon7:c.A882T:p.T294T;	0.999534647595628	0.98
18	44184070	T	C	18	46604107	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon7:c.A882G:p.T294T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.A882G:p.T294T;ENSG00000167210:ENST00000536736:exon7:c.A882G:p.T294T;	0.999027865482546	0.986
18	44184070	T	G	18	46604107	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon7:c.A882C:p.T294T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.A882C:p.T294T;ENSG00000167210:ENST00000536736:exon7:c.A882C:p.T294T;	0.999343171168428	0.988
18	44184071	G	A	18	46604108	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.C881T:p.T294I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.C881T:p.T294I;ENSG00000167210:ENST00000536736:exon7:c.C881T:p.T294I;	0.999721248378765	0.894
18	44184071	G	C	18	46604108	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.C881G:p.T294R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.C881G:p.T294R;ENSG00000167210:ENST00000536736:exon7:c.C881G:p.T294R;	0.956204634270123	0.662
18	44184071	G	T	18	46604108	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.C881A:p.T294K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.C881A:p.T294K;ENSG00000167210:ENST00000536736:exon7:c.C881A:p.T294K;	0.933674799072174	0.754
18	44184191	A	C	18	46604228	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.T761G:p.I254R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.T761G:p.I254R;ENSG00000167210:ENST00000536736:exon7:c.T761G:p.I254R;	0.129413837411261	0.256
18	44184191	A	G	18	46604228	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.T761C:p.I254T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.T761C:p.I254T;ENSG00000167210:ENST00000536736:exon7:c.T761C:p.I254T;	0.0964118045783969	0.268
18	44184191	A	T	18	46604228	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.T761A:p.I254K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.T761A:p.I254K;ENSG00000167210:ENST00000536736:exon7:c.T761A:p.I254K;	0.150676956361876	0.354
18	44184192	T	A	18	46604229	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.A760T:p.I254L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.A760T:p.I254L;ENSG00000167210:ENST00000536736:exon7:c.A760T:p.I254L;	0.223457245388168	0.488
18	44184192	T	C	18	46604229	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.A760G:p.I254V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.A760G:p.I254V;ENSG00000167210:ENST00000536736:exon7:c.A760G:p.I254V;	0.00459710934961424	0.07
18	44184192	T	G	18	46604229	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon7:c.A760C:p.I254L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon7:c.A760C:p.I254L;ENSG00000167210:ENST00000536736:exon7:c.A760C:p.I254L;	0.329149043196331	0.554
18	44184193	C	A	18	46604230	y	y	splicing	LOXHD1(NM_144612:exon8:c.760-1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.760-1G>T;ENST00000441551:exon8:c.760-1G>T)	.	.	0.999989072007339	0.934
18	44184193	C	G	18	46604230	y	y	splicing	LOXHD1(NM_144612:exon8:c.760-1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.760-1G>C;ENST00000441551:exon8:c.760-1G>C)	.	.	0.999989072007339	0.934
18	44184193	C	T	18	46604230	y	y	splicing	LOXHD1(NM_144612:exon8:c.760-1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.760-1G>A;ENST00000441551:exon8:c.760-1G>A)	.	.	0.999989072007339	0.934
18	44184194	T	A	18	46604231	y	y	splicing	LOXHD1(NM_144612:exon8:c.760-2A>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.760-2A>T;ENST00000441551:exon8:c.760-2A>T)	.	.	0.999988247793601	0.93
18	44184194	T	C	18	46604231	y	y	splicing	LOXHD1(NM_144612:exon8:c.760-2A>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.760-2A>G;ENST00000441551:exon8:c.760-2A>G)	.	.	0.999988247793601	0.93
18	44184194	T	G	18	46604231	y	y	splicing	LOXHD1(NM_144612:exon8:c.760-2A>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon8:c.760-2A>C;ENST00000441551:exon8:c.760-2A>C)	.	.	0.999988247793601	0.93
18	44184195	G	A	18	46604232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0119305254978688	0.04
18	44184195	G	C	18	46604232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999916728010493	0.924
18	44184195	G	T	18	46604232	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.714147199688748	0.474
18	44184196	G	A	18	46604233	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.44204408138849E-5	0.01
18	44184196	G	C	18	46604233	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.33302420743687E-5	0.004
18	44184196	G	T	18	46604233	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.33302420743687E-5	0.012
18	44184197	G	A	18	46604234	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.75062477668066E-4	0.064
18	44184197	G	C	18	46604234	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0041442831850486	0.046
18	44184197	G	T	18	46604234	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00551820517614226	0.046
18	44184198	A	C	18	46604235	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00351645837938852	0.192
18	44184198	A	G	18	46604235	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.24722844673697E-5	0.0
18	44184198	A	T	18	46604235	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00471062895780083	0.15
18	44184199	A	C	18	46604236	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.007799603659793	0.106
18	44184199	A	G	18	46604236	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.02320931215016E-4	0.072
18	44184199	A	T	18	46604236	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0113689985977341	0.09
18	44184200	G	A	18	46604237	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.54972628362067E-5	0.0
18	44184200	G	C	18	46604237	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.2308381900318E-4	0.068
18	44184200	G	T	18	46604237	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00796727175658246	0.068
18	44184201	G	A	18	46604238	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.16001461836683E-4	0.23
18	44184201	G	C	18	46604238	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.39323125856029E-5	0.074
18	44184201	G	T	18	46604238	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.2440053314224E-4	0.164
18	44184202	A	C	18	46604239	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00160809432756469	0.112
18	44184202	A	G	18	46604239	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.55634468391557E-4	0.068
18	44184202	A	T	18	46604239	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00544557824684044	0.162
18	44184203	G	A	18	46604240	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.31845951523333E-5	0.0
18	44184203	G	C	18	46604240	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.38109110457279E-5	0.026
18	44184203	G	T	18	46604240	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.45350791407599E-4	0.058
18	44184204	A	C	18	46604241	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0037167358622599	0.162
18	44184204	A	G	18	46604241	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.14591578649065E-4	0.014
18	44184204	A	T	18	46604241	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00677348574204141	0.176
18	44190731	G	A	18	46610768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.42474496267833E-5	0.0
18	44190731	G	C	18	46610768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.67352905110487E-5	0.014
18	44190731	G	T	18	46610768	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.42474496267833E-5	0.0
18	44190732	A	C	18	46610769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.31671506638536E-5	0.008
18	44190732	A	G	18	46610769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.31671506638536E-5	0.0
18	44190732	A	T	18	46610769	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.36411379079871E-5	0.0
18	44190733	A	C	18	46610770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.79276508497523E-4	0.08
18	44190733	A	G	18	46610770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00967762898392885	0.14
18	44190733	A	T	18	46610770	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0101454703396883	0.084
18	44190734	C	A	18	46610771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997893322123371	0.846
18	44190734	C	G	18	46610771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996441500562182	0.844
18	44190734	C	T	18	46610771	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99950868312171	0.928
18	44190735	T	A	18	46610772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0869066304479689	0.31
18	44190735	T	C	18	46610772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0941833078162205	0.294
18	44190735	T	G	18	46610772	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0268316383345616	0.274
18	44190736	C	A	18	46610773	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00869655435624329	0.31
18	44190736	C	G	18	46610773	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.023042121673697	0.256
18	44190736	C	T	18	46610773	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.32572949417532E-5	0.0
18	44190737	A	C	18	46610774	y	y	splicing	LOXHD1(NM_144612:exon7:c.759+2T>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.759+2T>G;ENST00000441551:exon7:c.759+2T>G)	.	.	0.999986472513537	0.928
18	44190737	A	G	18	46610774	y	y	splicing	LOXHD1(NM_144612:exon7:c.759+2T>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.759+2T>C;ENST00000441551:exon7:c.759+2T>C)	.	.	0.999913501570304	0.85
18	44190737	A	T	18	46610774	y	y	splicing	LOXHD1(NM_144612:exon7:c.759+2T>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.759+2T>A;ENST00000441551:exon7:c.759+2T>A)	.	.	0.999989482642341	0.928
18	44190738	C	A	18	46610775	y	y	splicing	LOXHD1(NM_144612:exon7:c.759+1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.759+1G>T;ENST00000441551:exon7:c.759+1G>T)	.	.	0.999988247793601	0.926
18	44190738	C	G	18	46610775	y	y	splicing	LOXHD1(NM_144612:exon7:c.759+1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.759+1G>C;ENST00000441551:exon7:c.759+1G>C)	.	.	0.999988247793601	0.926
18	44190738	C	T	18	46610775	y	y	splicing	LOXHD1(NM_144612:exon7:c.759+1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.759+1G>A;ENST00000441551:exon7:c.759+1G>A)	.	.	0.999988247793601	0.926
18	44190739	C	A	18	46610776	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.G759T:p.Q253H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G759T:p.Q253H;ENSG00000167210:ENST00000536736:exon6:c.G759T:p.Q253H;	0.994120085356294	0.838
18	44190739	C	G	18	46610776	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.G759C:p.Q253H;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G759C:p.Q253H;ENSG00000167210:ENST00000536736:exon6:c.G759C:p.Q253H;	0.994897422794534	0.846
18	44190739	C	T	18	46610776	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon6:c.G759A:p.Q253Q;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G759A:p.Q253Q;ENSG00000167210:ENST00000536736:exon6:c.G759A:p.Q253Q;	0.996686298177832	0.85
18	44190740	T	A	18	46610777	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.A758T:p.Q253L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.A758T:p.Q253L;ENSG00000167210:ENST00000536736:exon6:c.A758T:p.Q253L;	0.951911354523658	0.766
18	44190740	T	C	18	46610777	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.A758G:p.Q253R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.A758G:p.Q253R;ENSG00000167210:ENST00000536736:exon6:c.A758G:p.Q253R;	0.950949783300993	0.77
18	44190740	T	G	18	46610777	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.A758C:p.Q253P;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.A758C:p.Q253P;ENSG00000167210:ENST00000536736:exon6:c.A758C:p.Q253P;	0.816059868697761	0.65
18	44190741	G	A	18	46610778	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon6:c.C757T:p.Q253X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon6:c.C757T:p.Q253X;ENSG00000167210:ENST00000536736:exon6:c.C757T:p.Q253X;	0.0536361879445333	0.396
18	44190741	G	C	18	46610778	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.C757G:p.Q253E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.C757G:p.Q253E;ENSG00000167210:ENST00000536736:exon6:c.C757G:p.Q253E;	2.17501170414542E-4	0.04
18	44190741	G	T	18	46610778	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.C757A:p.Q253K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.C757A:p.Q253K;ENSG00000167210:ENST00000536736:exon6:c.C757A:p.Q253K;	1.8646029576571E-4	0.062
18	44190886	C	A	18	46610923	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon6:c.G612T:p.G204G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G612T:p.G204G;ENSG00000167210:ENST00000536736:exon6:c.G612T:p.G204G;	1.20483758077956E-5	0.002
18	44190886	C	G	18	46610923	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon6:c.G612C:p.G204G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G612C:p.G204G;ENSG00000167210:ENST00000536736:exon6:c.G612C:p.G204G;	2.34804234922182E-5	0.0
18	44190886	C	T	18	46610923	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon6:c.G612A:p.G204G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G612A:p.G204G;ENSG00000167210:ENST00000536736:exon6:c.G612A:p.G204G;	2.88594680916414E-5	0.0
18	44190887	C	A	18	46610924	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.G611T:p.G204V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G611T:p.G204V;ENSG00000167210:ENST00000536736:exon6:c.G611T:p.G204V;	0.884680527395114	0.574
18	44190887	C	G	18	46610924	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.G611C:p.G204A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G611C:p.G204A;ENSG00000167210:ENST00000536736:exon6:c.G611C:p.G204A;	0.662623379508235	0.586
18	44190887	C	T	18	46610924	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon6:c.G611A:p.G204E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon6:c.G611A:p.G204E;ENSG00000167210:ENST00000536736:exon6:c.G611A:p.G204E;	0.910836271910083	0.594
18	44190888	C	A	18	46610925	y	y	splicing	LOXHD1(NM_144612:exon7:c.611-1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.611-1G>T;ENST00000441551:exon7:c.611-1G>T)	.	.	0.99993928974862	0.942
18	44190888	C	G	18	46610925	y	y	splicing	LOXHD1(NM_144612:exon7:c.611-1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.611-1G>C;ENST00000441551:exon7:c.611-1G>C)	.	.	0.999960395825381	0.94
18	44190888	C	T	18	46610925	y	y	splicing	LOXHD1(NM_144612:exon7:c.611-1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.611-1G>A;ENST00000441551:exon7:c.611-1G>A)	.	.	0.99993928974862	0.942
18	44190889	T	A	18	46610926	y	y	splicing	LOXHD1(NM_144612:exon7:c.611-2A>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.611-2A>T;ENST00000441551:exon7:c.611-2A>T)	.	.	0.999979168129443	0.952
18	44190889	T	C	18	46610926	y	y	splicing	LOXHD1(NM_144612:exon7:c.611-2A>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.611-2A>G;ENST00000441551:exon7:c.611-2A>G)	.	.	0.99997844147206	0.938
18	44190889	T	G	18	46610926	y	y	splicing	LOXHD1(NM_144612:exon7:c.611-2A>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon7:c.611-2A>C;ENST00000441551:exon7:c.611-2A>C)	.	.	0.99997844147206	0.946
18	44190890	G	A	18	46610927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00802700773259833	0.348
18	44190890	G	C	18	46610927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999349879623029	0.87
18	44190890	G	T	18	46610927	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.91794359868935	0.79
18	44190891	T	A	18	46610928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.30254552714061E-4	0.086
18	44190891	T	C	18	46610928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.97299983837141E-4	0.098
18	44190891	T	G	18	46610928	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.69472586749499E-5	0.058
18	44190892	A	C	18	46610929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.981692949669345	0.68
18	44190892	A	G	18	46610929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.79643483969932E-5	0.008
18	44190892	A	T	18	46610929	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0670147010594824	0.364
18	44190893	T	A	18	46610930	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.33684777350849E-5	0.002
18	44190893	T	C	18	46610930	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.51371017745371E-5	0.0
18	44190893	T	G	18	46610930	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.94676664783226E-5	0.008
18	44190894	G	A	18	46610931	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.0871587718511E-5	0.0
18	44190894	G	C	18	46610931	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00683573203927874	0.11
18	44190894	G	T	18	46610931	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.102466235210834	0.212
18	44190895	C	A	18	46610932	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.10846313619554E-4	0.014
18	44190895	C	G	18	46610932	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.64224788172015E-4	0.026
18	44190895	C	T	18	46610932	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00201868355148754	0.136
18	44190896	A	C	18	46610933	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0251968590780041	0.416
18	44190896	A	G	18	46610933	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.71704224858545E-4	0.018
18	44190896	A	T	18	46610933	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999063555932622	0.892
18	44190897	C	A	18	46610934	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.00906123367758E-5	0.018
18	44190897	C	G	18	46610934	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.32609093453003E-5	0.006
18	44190897	C	T	18	46610934	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.1223956431167E-4	0.106
18	44190898	A	C	18	46610935	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.886630790082866	0.552
18	44190898	A	G	18	46610935	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00674014847598868	0.192
18	44190898	A	T	18	46610935	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999962642439562	0.948
18	44190899	G	A	18	46610936	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.20499107130324E-5	0.008
18	44190899	G	C	18	46610936	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.86674984622135E-4	0.068
18	44190899	G	T	18	46610936	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0020243242801973	0.05
18	44198147	C	A	18	46618184	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.08916309252732E-4	0.0
18	44198147	C	G	18	46618184	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.424277081993E-4	0.0
18	44198147	C	T	18	46618184	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.62664281804568E-4	0.0
18	44198148	C	A	18	46618185	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.12101787061195E-4	0.002
18	44198148	C	G	18	46618185	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.17014716175703E-4	0.01
18	44198148	C	T	18	46618185	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.57491786523094E-4	0.014
18	44198149	C	A	18	46618186	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.13450265007511E-4	0.02
18	44198149	C	G	18	46618186	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00436393165655633	0.074
18	44198149	C	T	18	46618186	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00441466481961044	0.038
18	44198150	A	C	18	46618187	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.17641992470783E-4	0.026
18	44198150	A	G	18	46618187	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.93648776843467E-4	0.016
18	44198150	A	T	18	46618187	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.89192032905159E-4	0.016
18	44198151	T	A	18	46618188	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.875973056246584	0.396
18	44198151	T	C	18	46618188	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.830345084510803	0.39
18	44198151	T	G	18	46618188	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.345745889327615	0.39
18	44198152	T	A	18	46618189	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999853386294073	0.91
18	44198152	T	C	18	46618189	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.913222223750357	0.796
18	44198152	T	G	18	46618189	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999575634466474	0.872
18	44198153	A	C	18	46618190	y	y	splicing	LOXHD1(NM_144612:exon6:c.610+2T>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.610+2T>G;ENST00000441551:exon6:c.610+2T>G)	.	.	0.999988247793601	0.928
18	44198153	A	G	18	46618190	y	y	splicing	LOXHD1(NM_144612:exon6:c.610+2T>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.610+2T>C;ENST00000441551:exon6:c.610+2T>C)	.	.	0.994669226766359	0.66
18	44198153	A	T	18	46618190	y	y	splicing	LOXHD1(NM_144612:exon6:c.610+2T>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.610+2T>A;ENST00000441551:exon6:c.610+2T>A)	.	.	0.999988247793601	0.928
18	44198154	C	A	18	46618191	y	y	splicing	LOXHD1(NM_144612:exon6:c.610+1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.610+1G>T;ENST00000441551:exon6:c.610+1G>T)	.	.	0.999986675681007	0.932
18	44198154	C	G	18	46618191	y	y	splicing	LOXHD1(NM_144612:exon6:c.610+1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.610+1G>C;ENST00000441551:exon6:c.610+1G>C)	.	.	0.999986675681007	0.932
18	44198154	C	T	18	46618191	y	y	splicing	LOXHD1(NM_144612:exon6:c.610+1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.610+1G>A;ENST00000441551:exon6:c.610+1G>A)	.	.	0.999986675681007	0.932
18	44198155	C	A	18	46618192	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.G610T:p.G204W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.G610T:p.G204W;ENSG00000167210:ENST00000536736:exon5:c.G610T:p.G204W;	0.999947565837712	0.974
18	44198155	C	G	18	46618192	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.G610C:p.G204R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.G610C:p.G204R;ENSG00000167210:ENST00000536736:exon5:c.G610C:p.G204R;	0.999997473325608	1.0
18	44198155	C	T	18	46618192	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.G610A:p.G204R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.G610A:p.G204R;ENSG00000167210:ENST00000536736:exon5:c.G610A:p.G204R;	0.999992639502688	1.0
18	44198156	T	A	18	46618193	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon5:c.A609T:p.T203T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.A609T:p.T203T;ENSG00000167210:ENST00000536736:exon5:c.A609T:p.T203T;	0.999863782694401	0.996
18	44198156	T	C	18	46618193	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon5:c.A609G:p.T203T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.A609G:p.T203T;ENSG00000167210:ENST00000536736:exon5:c.A609G:p.T203T;	0.999458123376487	0.984
18	44198156	T	G	18	46618193	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon5:c.A609C:p.T203T;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.A609C:p.T203T;ENSG00000167210:ENST00000536736:exon5:c.A609C:p.T203T;	0.999787793537254	0.992
18	44198157	G	A	18	46618194	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.C608T:p.T203I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.C608T:p.T203I;ENSG00000167210:ENST00000536736:exon5:c.C608T:p.T203I;	0.999385134567983	0.93
18	44198157	G	C	18	46618194	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.C608G:p.T203R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.C608G:p.T203R;ENSG00000167210:ENST00000536736:exon5:c.C608G:p.T203R;	0.944178496386513	0.558
18	44198157	G	T	18	46618194	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.C608A:p.T203K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.C608A:p.T203K;ENSG00000167210:ENST00000536736:exon5:c.C608A:p.T203K;	0.890246477599903	0.662
18	44198252	A	C	18	46618289	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon5:c.T513G:p.G171G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.T513G:p.G171G;ENSG00000167210:ENST00000536736:exon5:c.T513G:p.G171G;	5.76803657355796E-4	0.002
18	44198252	A	G	18	46618289	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon5:c.T513C:p.G171G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.T513C:p.G171G;ENSG00000167210:ENST00000536736:exon5:c.T513C:p.G171G;	7.20162444015128E-4	0.036
18	44198252	A	T	18	46618289	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon5:c.T513A:p.G171G;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.T513A:p.G171G;ENSG00000167210:ENST00000536736:exon5:c.T513A:p.G171G;	5.76803657355796E-4	0.006
18	44198253	C	A	18	46618290	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.G512T:p.G171V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.G512T:p.G171V;ENSG00000167210:ENST00000536736:exon5:c.G512T:p.G171V;	0.684565277833041	0.558
18	44198253	C	G	18	46618290	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.G512C:p.G171A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.G512C:p.G171A;ENSG00000167210:ENST00000536736:exon5:c.G512C:p.G171A;	0.450906291996341	0.488
18	44198253	C	T	18	46618290	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon5:c.G512A:p.G171D;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon5:c.G512A:p.G171D;ENSG00000167210:ENST00000536736:exon5:c.G512A:p.G171D;	0.350095538110973	0.554
18	44198254	C	A	18	46618291	y	y	splicing	LOXHD1(NM_144612:exon6:c.512-1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.512-1G>T;ENST00000441551:exon6:c.512-1G>T)	.	.	0.999986675681007	0.932
18	44198254	C	G	18	46618291	y	y	splicing	LOXHD1(NM_144612:exon6:c.512-1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.512-1G>C;ENST00000441551:exon6:c.512-1G>C)	.	.	0.999986675681007	0.932
18	44198254	C	T	18	46618291	y	y	splicing	LOXHD1(NM_144612:exon6:c.512-1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.512-1G>A;ENST00000441551:exon6:c.512-1G>A)	.	.	0.999986675681007	0.932
18	44198255	T	A	18	46618292	y	y	splicing	LOXHD1(NM_144612:exon6:c.512-2A>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.512-2A>T;ENST00000441551:exon6:c.512-2A>T)	.	.	0.999988247793601	0.928
18	44198255	T	C	18	46618292	y	y	splicing	LOXHD1(NM_144612:exon6:c.512-2A>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.512-2A>G;ENST00000441551:exon6:c.512-2A>G)	.	.	0.999988247793601	0.928
18	44198255	T	G	18	46618292	y	y	splicing	LOXHD1(NM_144612:exon6:c.512-2A>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon6:c.512-2A>C;ENST00000441551:exon6:c.512-2A>C)	.	.	0.999988247793601	0.928
18	44198256	A	C	18	46618293	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.86561385356095	0.628
18	44198256	A	G	18	46618293	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.07308830262931E-4	0.0
18	44198256	A	T	18	46618293	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0140121651097474	0.16
18	44198257	G	A	18	46618294	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.64428978184494E-4	0.06
18	44198257	G	C	18	46618294	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.08810770211505E-4	0.02
18	44198257	G	T	18	46618294	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.08131677400395E-4	0.016
18	44198258	G	A	18	46618295	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.56309952332504E-5	0.006
18	44198258	G	C	18	46618295	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.94634433110492E-4	0.088
18	44198258	G	T	18	46618295	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.8044474108705E-4	0.08
18	44198259	A	C	18	46618296	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00106676579043563	0.088
18	44198259	A	G	18	46618296	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.64475047315337E-5	0.012
18	44198259	A	T	18	46618296	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00126622421277083	0.066
18	44198260	A	C	18	46618297	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.26136373392569E-4	0.042
18	44198260	A	G	18	46618297	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.56585428336441E-4	0.004
18	44198260	A	T	18	46618297	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.32823041539605E-4	0.07
18	44198261	C	A	18	46618298	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.69523187335458E-5	0.006
18	44198261	C	G	18	46618298	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.53123717670445E-4	0.026
18	44198261	C	T	18	46618298	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.81440706338999E-4	0.028
18	44198262	A	C	18	46618299	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.00202056078574E-5	0.056
18	44198262	A	G	18	46618299	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.47819537227035E-6	0.01
18	44198262	A	T	18	46618299	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.987645910268206	0.844
18	44198263	A	C	18	46618300	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0175584385364596	0.244
18	44198263	A	G	18	46618300	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0023879550726769	0.082
18	44198263	A	T	18	46618300	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0132293776630399	0.298
18	44198264	G	A	18	46618301	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.43230764346261E-4	0.148
18	44198264	G	C	18	46618301	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.72398916322809E-5	0.074
18	44198264	G	T	18	46618301	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.80497936824101E-5	0.094
18	44198265	G	A	18	46618302	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.93018332587604E-4	0.162
18	44198265	G	C	18	46618302	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.15080148660813E-4	0.072
18	44198265	G	T	18	46618302	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.80898445814477E-4	0.132
18	44219571	G	A	18	46639608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.1469946901721E-4	0.0
18	44219571	G	C	18	46639608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.8376221675863E-4	0.016
18	44219571	G	T	18	46639608	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.1469946901721E-4	0.0
18	44219572	C	A	18	46639609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.00061375586991E-4	0.02
18	44219572	C	G	18	46639609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.57491786523094E-4	0.006
18	44219572	C	T	18	46639609	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.52734514252422E-4	0.004
18	44219573	A	C	18	46639610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.982150828043761	0.784
18	44219573	A	G	18	46639610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.924806671626111	0.838
18	44219573	A	T	18	46639610	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994764486625355	0.776
18	44219574	C	A	18	46639611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996244741828506	0.91
18	44219574	C	G	18	46639611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999883196893521	0.972
18	44219574	C	T	18	46639611	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999517017396318	0.948
18	44219575	T	A	18	46639612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.991800663430746	0.814
18	44219575	T	C	18	46639612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.987583299266426	0.826
18	44219575	T	G	18	46639612	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994176247123156	0.872
18	44219576	G	A	18	46639613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00107591630206869	0.034
18	44219576	G	C	18	46639613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.58070376643941E-4	0.06
18	44219576	G	T	18	46639613	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.72224594442135E-4	0.116
18	44219577	A	C	18	46639614	y	y	splicing	LOXHD1(NM_144612:exon5:c.511+2T>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.511+2T>G;ENST00000441551:exon5:c.511+2T>G)	.	.	0.999988247793601	0.928
18	44219577	A	G	18	46639614	y	y	splicing	LOXHD1(NM_144612:exon5:c.511+2T>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.511+2T>C;ENST00000441551:exon5:c.511+2T>C)	.	.	0.99295178357233	0.652
18	44219577	A	T	18	46639614	y	y	splicing	LOXHD1(NM_144612:exon5:c.511+2T>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.511+2T>A;ENST00000441551:exon5:c.511+2T>A)	.	.	0.999988247793601	0.928
18	44219578	C	A	18	46639615	y	y	splicing	LOXHD1(NM_144612:exon5:c.511+1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.511+1G>T;ENST00000441551:exon5:c.511+1G>T)	.	.	0.999986675681007	0.926
18	44219578	C	G	18	46639615	y	y	splicing	LOXHD1(NM_144612:exon5:c.511+1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.511+1G>C;ENST00000441551:exon5:c.511+1G>C)	.	.	0.999986675681007	0.926
18	44219578	C	T	18	46639615	y	y	splicing	LOXHD1(NM_144612:exon5:c.511+1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.511+1G>A;ENST00000441551:exon5:c.511+1G>A)	.	.	0.999986675681007	0.926
18	44219579	C	A	18	46639616	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.G511T:p.G171C;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G511T:p.G171C;ENSG00000167210:ENST00000536736:exon4:c.G511T:p.G171C;	0.999859962411291	0.908
18	44219579	C	G	18	46639616	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.G511C:p.G171R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G511C:p.G171R;ENSG00000167210:ENST00000536736:exon4:c.G511C:p.G171R;	0.999986542042222	0.922
18	44219579	C	T	18	46639616	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.G511A:p.G171S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G511A:p.G171S;ENSG00000167210:ENST00000536736:exon4:c.G511A:p.G171S;	0.99998138087827	0.97
18	44219580	T	A	18	46639617	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.A510T:p.R170S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.A510T:p.R170S;ENSG00000167210:ENST00000536736:exon4:c.A510T:p.R170S;	0.994392430829491	0.948
18	44219580	T	C	18	46639617	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon4:c.A510G:p.R170R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.A510G:p.R170R;ENSG00000167210:ENST00000536736:exon4:c.A510G:p.R170R;	0.998658346514212	0.984
18	44219580	T	G	18	46639617	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.A510C:p.R170S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.A510C:p.R170S;ENSG00000167210:ENST00000536736:exon4:c.A510C:p.R170S;	0.87289665545376	0.774
18	44219581	C	A	18	46639618	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.G509T:p.R170I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G509T:p.R170I;ENSG00000167210:ENST00000536736:exon4:c.G509T:p.R170I;	0.00883581228884771	0.172
18	44219581	C	G	18	46639618	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.G509C:p.R170T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G509C:p.R170T;ENSG00000167210:ENST00000536736:exon4:c.G509C:p.R170T;	4.9622720338065E-4	0.02
18	44219581	C	T	18	46639618	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.G509A:p.R170K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G509A:p.R170K;ENSG00000167210:ENST00000536736:exon4:c.G509A:p.R170K;	3.60986730962439E-4	0.024
18	44219762	T	A	18	46639799	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.A328T:p.I110F;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.A328T:p.I110F;ENSG00000167210:ENST00000536736:exon4:c.A328T:p.I110F;	0.00759289084462268	0.08
18	44219762	T	C	18	46639799	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.A328G:p.I110V;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.A328G:p.I110V;ENSG00000167210:ENST00000536736:exon4:c.A328G:p.I110V;	0.00881665211554976	0.042
18	44219762	T	G	18	46639799	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.A328C:p.I110L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.A328C:p.I110L;ENSG00000167210:ENST00000536736:exon4:c.A328C:p.I110L;	0.209975118278182	0.376
18	44219763	C	A	18	46639800	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.G327T:p.R109S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G327T:p.R109S;ENSG00000167210:ENST00000536736:exon4:c.G327T:p.R109S;	0.754850255721074	0.534
18	44219763	C	G	18	46639800	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon4:c.G327C:p.R109S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G327C:p.R109S;ENSG00000167210:ENST00000536736:exon4:c.G327C:p.R109S;	0.800971412340288	0.56
18	44219763	C	T	18	46639800	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon4:c.G327A:p.R109R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon4:c.G327A:p.R109R;ENSG00000167210:ENST00000536736:exon4:c.G327A:p.R109R;	0.180178929728934	0.298
18	44219764	C	A	18	46639801	y	y	splicing	LOXHD1(NM_144612:exon5:c.327-1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.327-1G>T;ENST00000441551:exon5:c.327-1G>T)	.	.	0.999989072007339	0.94
18	44219764	C	G	18	46639801	y	y	splicing	LOXHD1(NM_144612:exon5:c.327-1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.327-1G>C;ENST00000441551:exon5:c.327-1G>C)	.	.	0.999989072007339	0.94
18	44219764	C	T	18	46639801	y	y	splicing	LOXHD1(NM_144612:exon5:c.327-1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.327-1G>A;ENST00000441551:exon5:c.327-1G>A)	.	.	0.999989072007339	0.936
18	44219765	T	A	18	46639802	y	y	splicing	LOXHD1(NM_144612:exon5:c.327-2A>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.327-2A>T;ENST00000441551:exon5:c.327-2A>T)	.	.	0.999988247793601	0.938
18	44219765	T	C	18	46639802	y	y	splicing	LOXHD1(NM_144612:exon5:c.327-2A>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.327-2A>G;ENST00000441551:exon5:c.327-2A>G)	.	.	0.999983636037506	0.936
18	44219765	T	G	18	46639802	y	y	splicing	LOXHD1(NM_144612:exon5:c.327-2A>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon5:c.327-2A>C;ENST00000441551:exon5:c.327-2A>C)	.	.	0.999988247793601	0.938
18	44219766	G	A	18	46639803	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.86219695226553E-4	0.046
18	44219766	G	C	18	46639803	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999793196294031	0.946
18	44219766	G	T	18	46639803	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.949370184161273	0.658
18	44219767	A	C	18	46639804	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.02936802380109E-6	0.004
18	44219767	A	G	18	46639804	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.04504567654326E-5	0.016
18	44219767	A	T	18	46639804	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.80908507026471E-6	0.002
18	44219768	G	A	18	46639805	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.39566525108562E-5	0.006
18	44219768	G	C	18	46639805	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0306069407721404	0.184
18	44219768	G	T	18	46639805	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00297768171308365	0.082
18	44219769	G	A	18	46639806	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.7955502177305E-5	0.004
18	44219769	G	C	18	46639806	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00155108721866276	0.126
18	44219769	G	T	18	46639806	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00168008551891604	0.12
18	44219770	C	A	18	46639807	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.47017734204931E-5	0.018
18	44219770	C	G	18	46639807	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.06236763784817E-4	0.04
18	44219770	C	T	18	46639807	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.62236765956519E-4	0.058
18	44219771	A	C	18	46639808	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0105860711609774	0.11
18	44219771	A	G	18	46639808	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.94729230945945E-5	0.0
18	44219771	A	T	18	46639808	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999973890570649	0.982
18	44219772	G	A	18	46639809	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.20559772602913E-4	0.0
18	44219772	G	C	18	46639809	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0065336386582501	0.086
18	44219772	G	T	18	46639809	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0245554993853594	0.068
18	44219773	A	C	18	46639810	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.932410493375695	0.67
18	44219773	A	G	18	46639810	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00201434467042917	0.13
18	44219773	A	T	18	46639810	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.977744370215748	0.694
18	44219774	A	C	18	46639811	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.946735485944433	0.752
18	44219774	A	G	18	46639811	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0729242909524745	0.274
18	44219774	A	T	18	46639811	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.984971999923575	0.824
18	44219775	G	A	18	46639812	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.54831991509662E-4	0.004
18	44219775	G	C	18	46639812	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0017753780283874	0.078
18	44219775	G	T	18	46639812	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00620012703194637	0.05
18	44221911	C	A	18	46641948	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.72410482137535E-6	0.0
18	44221911	C	G	18	46641948	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.72410482137535E-6	0.0
18	44221911	C	T	18	46641948	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.72410482137535E-6	0.0
18	44221912	T	A	18	46641949	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.25072556964337E-4	0.0
18	44221912	T	C	18	46641949	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.05744880995819E-4	0.0
18	44221912	T	G	18	46641949	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.69168927045529E-5	0.0
18	44221913	T	A	18	46641950	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.15337530874001E-5	0.02
18	44221913	T	C	18	46641950	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	6.23714592378343E-6	0.02
18	44221913	T	G	18	46641950	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.61819883389621E-5	0.02
18	44221914	C	A	18	46641951	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998221505471366	0.846
18	44221914	C	G	18	46641951	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998535603085762	0.866
18	44221914	C	T	18	46641951	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998035114260806	0.896
18	44221915	T	A	18	46641952	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.975177312999674	0.626
18	44221915	T	C	18	46641952	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.89660084975394	0.624
18	44221915	T	G	18	46641952	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.491530586846233	0.5
18	44221916	C	A	18	46641953	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.717586755546402	0.586
18	44221916	C	G	18	46641953	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.779028615650873	0.464
18	44221916	C	T	18	46641953	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.11862699105424E-4	0.008
18	44221917	A	C	18	46641954	y	y	splicing	LOXHD1(NM_144612:exon4:c.326+2T>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.326+2T>G;ENST00000441551:exon4:c.326+2T>G)	.	.	0.999988247793601	0.926
18	44221917	A	G	18	46641954	y	y	splicing	LOXHD1(NM_144612:exon4:c.326+2T>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.326+2T>C;ENST00000441551:exon4:c.326+2T>C)	.	.	0.99991520749976	0.852
18	44221917	A	T	18	46641954	y	y	splicing	LOXHD1(NM_144612:exon4:c.326+2T>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.326+2T>A;ENST00000441551:exon4:c.326+2T>A)	.	.	0.999988247793601	0.926
18	44221918	C	A	18	46641955	y	y	splicing	LOXHD1(NM_144612:exon4:c.326+1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.326+1G>T;ENST00000441551:exon4:c.326+1G>T)	.	.	0.999989072007339	0.922
18	44221918	C	G	18	46641955	y	y	splicing	LOXHD1(NM_144612:exon4:c.326+1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.326+1G>C;ENST00000441551:exon4:c.326+1G>C)	.	.	0.999989072007339	0.934
18	44221918	C	T	18	46641955	y	y	splicing	LOXHD1(NM_144612:exon4:c.326+1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.326+1G>A;ENST00000441551:exon4:c.326+1G>A)	.	.	0.999989072007339	0.932
18	44221919	C	A	18	46641956	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.G326T:p.R109M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.G326T:p.R109M;ENSG00000167210:ENST00000536736:exon3:c.G326T:p.R109M;	0.999620412085087	0.912
18	44221919	C	G	18	46641956	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.G326C:p.R109T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.G326C:p.R109T;ENSG00000167210:ENST00000536736:exon3:c.G326C:p.R109T;	0.999988513905559	0.984
18	44221919	C	T	18	46641956	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.G326A:p.R109K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.G326A:p.R109K;ENSG00000167210:ENST00000536736:exon3:c.G326A:p.R109K;	0.999829399627874	0.948
18	44221920	T	A	18	46641957	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.A325T:p.R109W;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.A325T:p.R109W;ENSG00000167210:ENST00000536736:exon3:c.A325T:p.R109W;	0.223974041778409	0.586
18	44221920	T	C	18	46641957	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.A325G:p.R109G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.A325G:p.R109G;ENSG00000167210:ENST00000536736:exon3:c.A325G:p.R109G;	0.343485300693218	0.456
18	44221920	T	G	18	46641957	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon3:c.A325C:p.R109R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.A325C:p.R109R;ENSG00000167210:ENST00000536736:exon3:c.A325C:p.R109R;	0.158695857670224	0.532
18	44221921	G	A	18	46641958	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon3:c.C324T:p.V108V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.C324T:p.V108V;ENSG00000167210:ENST00000536736:exon3:c.C324T:p.V108V;	0.701042349253843	0.56
18	44221921	G	C	18	46641958	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon3:c.C324G:p.V108V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.C324G:p.V108V;ENSG00000167210:ENST00000536736:exon3:c.C324G:p.V108V;	0.0524111304920659	0.232
18	44221921	G	T	18	46641958	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon3:c.C324A:p.V108V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.C324A:p.V108V;ENSG00000167210:ENST00000536736:exon3:c.C324A:p.V108V;	0.0189907692864467	0.162
18	44221998	T	A	18	46642035	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.A247T:p.S83C;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.A247T:p.S83C;ENSG00000167210:ENST00000536736:exon3:c.A247T:p.S83C;	0.0148875316312463	0.378
18	44221998	T	C	18	46642035	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.A247G:p.S83G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.A247G:p.S83G;ENSG00000167210:ENST00000536736:exon3:c.A247G:p.S83G;	0.0457364377318288	0.39
18	44221998	T	G	18	46642035	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.A247C:p.S83R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.A247C:p.S83R;ENSG00000167210:ENST00000536736:exon3:c.A247C:p.S83R;	0.102258936271716	0.452
18	44221999	C	A	18	46642036	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.G246T:p.K82N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.G246T:p.K82N;ENSG00000167210:ENST00000536736:exon3:c.G246T:p.K82N;	0.996837392522717	0.96
18	44221999	C	G	18	46642036	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon3:c.G246C:p.K82N;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.G246C:p.K82N;ENSG00000167210:ENST00000536736:exon3:c.G246C:p.K82N;	0.956995101974341	0.872
18	44221999	C	T	18	46642036	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon3:c.G246A:p.K82K;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon3:c.G246A:p.K82K;ENSG00000167210:ENST00000536736:exon3:c.G246A:p.K82K;	0.998564051280946	0.854
18	44222000	C	A	18	46642037	y	y	splicing	LOXHD1(NM_144612:exon4:c.246-1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.246-1G>T;ENST00000441551:exon4:c.246-1G>T)	.	.	0.999984967332678	0.938
18	44222000	C	G	18	46642037	y	y	splicing	LOXHD1(NM_144612:exon4:c.246-1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.246-1G>C;ENST00000441551:exon4:c.246-1G>C)	.	.	0.999984967332678	0.938
18	44222000	C	T	18	46642037	y	y	splicing	LOXHD1(NM_144612:exon4:c.246-1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.246-1G>A;ENST00000441551:exon4:c.246-1G>A)	.	.	0.999984967332678	0.938
18	44222001	T	A	18	46642038	y	y	splicing	LOXHD1(NM_144612:exon4:c.246-2A>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.246-2A>T;ENST00000441551:exon4:c.246-2A>T)	.	.	0.999986741007567	0.936
18	44222001	T	C	18	46642038	y	y	splicing	LOXHD1(NM_144612:exon4:c.246-2A>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.246-2A>G;ENST00000441551:exon4:c.246-2A>G)	.	.	0.999986741007567	0.936
18	44222001	T	G	18	46642038	y	y	splicing	LOXHD1(NM_144612:exon4:c.246-2A>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon4:c.246-2A>C;ENST00000441551:exon4:c.246-2A>C)	.	.	0.999986741007567	0.936
18	44222002	G	A	18	46642039	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0018702889371576	0.124
18	44222002	G	C	18	46642039	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.998883170895759	0.8
18	44222002	G	T	18	46642039	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.967094992781318	0.702
18	44222003	C	A	18	46642040	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.23062177525806E-4	0.006
18	44222003	C	G	18	46642040	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.84245234555771E-5	0.018
18	44222003	C	T	18	46642040	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.14946654002704E-4	0.008
18	44222004	A	C	18	46642041	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997391636053716	0.848
18	44222004	A	G	18	46642041	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.282988900719781	0.248
18	44222004	A	T	18	46642041	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999927553794958	0.96
18	44222005	A	C	18	46642042	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999928186242266	0.892
18	44222005	A	G	18	46642042	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.7275708947069E-4	0.072
18	44222005	A	T	18	46642042	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.232265020549371	0.408
18	44222006	T	A	18	46642043	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.20561911767088E-5	0.0
18	44222006	T	C	18	46642043	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.07256548728156E-5	0.0
18	44222006	T	G	18	46642043	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.78778313796105E-5	0.0
18	44222007	G	A	18	46642044	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	4.27681218233266E-4	0.03
18	44222007	G	C	18	46642044	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00278593706582853	0.056
18	44222007	G	T	18	46642044	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00344136672426336	0.08
18	44222008	A	C	18	46642045	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.283829731652341	0.538
18	44222008	A	G	18	46642045	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.55389666840792E-4	0.042
18	44222008	A	T	18	46642045	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.623901531640039	0.73
18	44222009	A	C	18	46642046	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.847833201100357	0.696
18	44222009	A	G	18	46642046	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.6901753574118E-4	0.044
18	44222009	A	T	18	46642046	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.255317273378508	0.696
18	44222010	C	A	18	46642047	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.1973622169057E-5	0.034
18	44222010	C	G	18	46642047	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.24673315994659E-5	0.004
18	44222010	C	T	18	46642047	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.94462989078424E-4	0.034
18	44222011	A	C	18	46642048	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.158227568277585	0.57
18	44222011	A	G	18	46642048	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00128825805831694	0.096
18	44222011	A	T	18	46642048	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999972970854335	0.954
18	44229110	G	A	18	46649147	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.99011198133604E-5	0.0
18	44229110	G	C	18	46649147	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.99011198133604E-5	0.0
18	44229110	G	T	18	46649147	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.47241351903229E-5	0.0
18	44229111	T	A	18	46649148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00623917205682803	0.038
18	44229111	T	C	18	46649148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00615349619009293	0.036
18	44229111	T	G	18	46649148	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.0057617472040776	0.04
18	44229112	A	C	18	46649149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.98836154504893	0.858
18	44229112	A	G	18	46649149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.988833342615978	0.858
18	44229112	A	T	18	46649149	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.994186732194244	0.898
18	44229113	C	A	18	46649150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999961520639365	0.998
18	44229113	C	G	18	46649150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999901622359415	0.982
18	44229113	C	T	18	46649150	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999894290480887	0.97
18	44229114	T	A	18	46649151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99839007733329	0.878
18	44229114	T	C	18	46649151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.996748729935608	0.972
18	44229114	T	G	18	46649151	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.997857196369099	0.888
18	44229115	C	A	18	46649152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.99253975523542	0.788
18	44229115	C	G	18	46649152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999036725963661	0.736
18	44229115	C	T	18	46649152	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00141050141626791	0.012
18	44229116	A	C	18	46649153	y	y	splicing	LOXHD1(NM_144612:exon3:c.245+2T>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.245+2T>G;ENST00000441551:exon3:c.245+2T>G)	.	.	0.999990155693597	0.928
18	44229116	A	G	18	46649153	y	y	splicing	LOXHD1(NM_144612:exon3:c.245+2T>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.245+2T>C;ENST00000441551:exon3:c.245+2T>C)	.	.	0.999928972209748	0.864
18	44229116	A	T	18	46649153	y	y	splicing	LOXHD1(NM_144612:exon3:c.245+2T>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.245+2T>A;ENST00000441551:exon3:c.245+2T>A)	.	.	0.999990155693597	0.928
18	44229117	C	A	18	46649154	y	y	splicing	LOXHD1(NM_144612:exon3:c.245+1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.245+1G>T;ENST00000441551:exon3:c.245+1G>T)	.	.	0.999986675681007	0.936
18	44229117	C	G	18	46649154	y	y	splicing	LOXHD1(NM_144612:exon3:c.245+1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.245+1G>C;ENST00000441551:exon3:c.245+1G>C)	.	.	0.999986675681007	0.936
18	44229117	C	T	18	46649154	y	y	splicing	LOXHD1(NM_144612:exon3:c.245+1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.245+1G>A;ENST00000441551:exon3:c.245+1G>A)	.	.	0.999986675681007	0.936
18	44229118	T	A	18	46649155	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.A245T:p.K82M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.A245T:p.K82M;ENSG00000167210:ENST00000536736:exon2:c.A245T:p.K82M;	0.0299082177569375	0.406
18	44229118	T	C	18	46649155	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.A245G:p.K82R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.A245G:p.K82R;ENSG00000167210:ENST00000536736:exon2:c.A245G:p.K82R;	0.0251991879923088	0.248
18	44229118	T	G	18	46649155	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.A245C:p.K82T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.A245C:p.K82T;ENSG00000167210:ENST00000536736:exon2:c.A245C:p.K82T;	0.0982595889256289	0.52
18	44229119	T	A	18	46649156	y	y	exonic	LOXHD1	stopgain SNV	LOXHD1:NM_144612:exon2:c.A244T:p.K82X;	exonic	ENSG00000167210	stopgain SNV	ENSG00000167210:ENST00000441551:exon2:c.A244T:p.K82X;ENSG00000167210:ENST00000536736:exon2:c.A244T:p.K82X;	0.998442301499764	0.932
18	44229119	T	C	18	46649156	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.A244G:p.K82E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.A244G:p.K82E;ENSG00000167210:ENST00000536736:exon2:c.A244G:p.K82E;	0.973924254186331	0.904
18	44229119	T	G	18	46649156	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.A244C:p.K82Q;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.A244C:p.K82Q;ENSG00000167210:ENST00000536736:exon2:c.A244C:p.K82Q;	0.960166162181682	0.912
18	44229120	G	A	18	46649157	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon2:c.C243T:p.S81S;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.C243T:p.S81S;ENSG00000167210:ENST00000536736:exon2:c.C243T:p.S81S;	0.997923810797574	0.88
18	44229120	G	C	18	46649157	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.C243G:p.S81R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.C243G:p.S81R;ENSG00000167210:ENST00000536736:exon2:c.C243G:p.S81R;	0.533027407571799	0.486
18	44229120	G	T	18	46649157	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.C243A:p.S81R;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.C243A:p.S81R;ENSG00000167210:ENST00000536736:exon2:c.C243A:p.S81R;	0.623495957001107	0.48
18	44229231	C	A	18	46649268	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon2:c.G132T:p.V44V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.G132T:p.V44V;ENSG00000167210:ENST00000536736:exon2:c.G132T:p.V44V;	1.73197965877603E-5	0.0
18	44229231	C	G	18	46649268	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon2:c.G132C:p.V44V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.G132C:p.V44V;ENSG00000167210:ENST00000536736:exon2:c.G132C:p.V44V;	5.65037173163595E-5	0.01
18	44229231	C	T	18	46649268	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon2:c.G132A:p.V44V;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.G132A:p.V44V;ENSG00000167210:ENST00000536736:exon2:c.G132A:p.V44V;	3.879775659265E-5	0.0
18	44229232	A	C	18	46649269	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.T131G:p.V44G;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.T131G:p.V44G;ENSG00000167210:ENST00000536736:exon2:c.T131G:p.V44G;	0.00170684181171689	0.086
18	44229232	A	G	18	46649269	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.T131C:p.V44A;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.T131C:p.V44A;ENSG00000167210:ENST00000536736:exon2:c.T131C:p.V44A;	0.00223987889865845	0.028
18	44229232	A	T	18	46649269	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon2:c.T131A:p.V44E;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon2:c.T131A:p.V44E;ENSG00000167210:ENST00000536736:exon2:c.T131A:p.V44E;	9.6769472372822E-4	0.006
18	44229233	C	A	18	46649270	y	y	splicing	LOXHD1(NM_144612:exon3:c.131-1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.131-1G>T;ENST00000441551:exon3:c.131-1G>T)	.	.	0.999938990645747	0.944
18	44229233	C	G	18	46649270	y	y	splicing	LOXHD1(NM_144612:exon3:c.131-1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.131-1G>C;ENST00000441551:exon3:c.131-1G>C)	.	.	0.999938990645747	0.914
18	44229233	C	T	18	46649270	y	y	splicing	LOXHD1(NM_144612:exon3:c.131-1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.131-1G>A;ENST00000441551:exon3:c.131-1G>A)	.	.	0.999938990645747	0.948
18	44229234	T	A	18	46649271	y	y	splicing	LOXHD1(NM_144612:exon3:c.131-2A>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.131-2A>T;ENST00000441551:exon3:c.131-2A>T)	.	.	0.999967305459904	0.944
18	44229234	T	C	18	46649271	y	y	splicing	LOXHD1(NM_144612:exon3:c.131-2A>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.131-2A>G;ENST00000441551:exon3:c.131-2A>G)	.	.	0.999978672009528	0.936
18	44229234	T	G	18	46649271	y	y	splicing	LOXHD1(NM_144612:exon3:c.131-2A>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon3:c.131-2A>C;ENST00000441551:exon3:c.131-2A>C)	.	.	0.999978672009528	0.936
18	44229235	G	A	18	46649272	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.030859874236109	0.252
18	44229235	G	C	18	46649272	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999500341993031	0.956
18	44229235	G	T	18	46649272	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.956816471484242	0.806
18	44229236	G	A	18	46649273	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.52842128210576E-5	0.004
18	44229236	G	C	18	46649273	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.51658443982992E-5	0.004
18	44229236	G	T	18	46649273	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.52842128210576E-5	0.004
18	44229237	A	C	18	46649274	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00221960082045095	0.13
18	44229237	A	G	18	46649274	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.68102495278432E-5	0.012
18	44229237	A	T	18	46649274	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	9.11527867574296E-4	0.09
18	44229238	G	A	18	46649275	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.97159046723495E-5	0.0
18	44229238	G	C	18	46649275	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00282942203781894	0.108
18	44229238	G	T	18	46649275	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00241630967033339	0.114
18	44229239	G	A	18	46649276	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.74462251986786E-5	0.002
18	44229239	G	C	18	46649276	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00355458160818256	0.09
18	44229239	G	T	18	46649276	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00307065232176886	0.058
18	44229240	A	C	18	46649277	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00203348983025267	0.104
18	44229240	A	G	18	46649277	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.74406323561639E-5	0.0
18	44229240	A	T	18	46649277	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00127867519481503	0.094
18	44229241	G	A	18	46649278	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.77321861674862E-5	0.0
18	44229241	G	C	18	46649278	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.20994563708124E-4	0.004
18	44229241	G	T	18	46649278	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.7388546538061E-4	0.058
18	44229242	G	A	18	46649279	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.79854231595135E-4	0.004
18	44229242	G	C	18	46649279	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00349468215961165	0.108
18	44229242	G	T	18	46649279	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00816403822063157	0.078
18	44229243	A	C	18	46649280	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00243703800046755	0.202
18	44229243	A	G	18	46649280	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	3.2334108328224E-4	0.056
18	44229243	A	T	18	46649280	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00777189514853694	0.296
18	44229244	G	A	18	46649281	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.77321861674862E-5	0.0
18	44229244	G	C	18	46649281	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.22529551360684E-5	0.002
18	44229244	G	T	18	46649281	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.08578491009048E-5	0.002
18	44236859	C	A	18	46656896	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00127303957222648	0.006
18	44236859	C	G	18	46656896	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	8.03388587854899E-5	0.0
18	44236859	C	T	18	46656896	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00127303957222648	0.008
18	44236860	C	A	18	46656897	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.10246409001248E-4	0.008
18	44236860	C	G	18	46656897	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.59271576537878E-4	0.006
18	44236860	C	T	18	46656897	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.73706585875673E-5	0.014
18	44236861	C	A	18	46656898	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.33684777350849E-5	0.0
18	44236861	C	G	18	46656898	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	2.38854727612662E-5	0.032
18	44236861	C	T	18	46656898	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	7.77443188639996E-5	0.018
18	44236862	C	A	18	46656899	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999092481496384	0.916
18	44236862	C	G	18	46656899	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999607081604286	0.868
18	44236862	C	T	18	46656899	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.999812990370325	0.964
18	44236863	G	A	18	46656900	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00298388006862206	0.062
18	44236863	G	C	18	46656900	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.00112861762693951	0.084
18	44236863	G	T	18	46656900	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	5.45946964762049E-5	0.006
18	44236864	C	A	18	46656901	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.4926738894666	0.536
18	44236864	C	G	18	46656901	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	0.896237627789504	0.59
18	44236864	C	T	18	46656901	y	y	intronic	LOXHD1	.	.	intronic	ENSG00000167210	.	.	1.66799699933216E-4	0.022
18	44236865	A	C	18	46656902	y	y	splicing	LOXHD1(NM_144612:exon2:c.130+2T>G)	.	.	splicing	ENSG00000167210(ENST00000536736:exon2:c.130+2T>G;ENST00000441551:exon2:c.130+2T>G)	.	.	0.999988489923977	0.842
18	44236865	A	G	18	46656902	y	y	splicing	LOXHD1(NM_144612:exon2:c.130+2T>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon2:c.130+2T>C;ENST00000441551:exon2:c.130+2T>C)	.	.	0.999918146697001	0.86
18	44236865	A	T	18	46656902	y	y	splicing	LOXHD1(NM_144612:exon2:c.130+2T>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon2:c.130+2T>A;ENST00000441551:exon2:c.130+2T>A)	.	.	0.999992622308146	0.906
18	44236866	C	A	18	46656903	y	y	splicing	LOXHD1(NM_144612:exon2:c.130+1G>T)	.	.	splicing	ENSG00000167210(ENST00000536736:exon2:c.130+1G>T;ENST00000441551:exon2:c.130+1G>T)	.	.	0.999970890420065	0.854
18	44236866	C	G	18	46656903	y	y	splicing	LOXHD1(NM_144612:exon2:c.130+1G>C)	.	.	splicing	ENSG00000167210(ENST00000536736:exon2:c.130+1G>C;ENST00000441551:exon2:c.130+1G>C)	.	.	0.999970890420065	0.82
18	44236866	C	T	18	46656903	y	y	splicing	LOXHD1(NM_144612:exon2:c.130+1G>A)	.	.	splicing	ENSG00000167210(ENST00000536736:exon2:c.130+1G>A;ENST00000441551:exon2:c.130+1G>A)	.	.	0.999976198467585	0.866
18	44236867	C	A	18	46656904	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon1:c.G130T:p.V44L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.G130T:p.V44L;ENSG00000167210:ENST00000536736:exon1:c.G130T:p.V44L;	0.999958285252279	0.966
18	44236867	C	G	18	46656904	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon1:c.G130C:p.V44L;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.G130C:p.V44L;ENSG00000167210:ENST00000536736:exon1:c.G130C:p.V44L;	0.999989408722089	0.948
18	44236867	C	T	18	46656904	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon1:c.G130A:p.V44M;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.G130A:p.V44M;ENSG00000167210:ENST00000536736:exon1:c.G130A:p.V44M;	0.999973990512637	0.998
18	44236868	T	A	18	46656905	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon1:c.A129T:p.R43S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.A129T:p.R43S;ENSG00000167210:ENST00000536736:exon1:c.A129T:p.R43S;	0.990266513732018	0.722
18	44236868	T	C	18	46656905	y	y	exonic	LOXHD1	synonymous SNV	LOXHD1:NM_144612:exon1:c.A129G:p.R43R;	exonic	ENSG00000167210	synonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.A129G:p.R43R;ENSG00000167210:ENST00000536736:exon1:c.A129G:p.R43R;	0.996206907983747	0.87
18	44236868	T	G	18	46656905	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon1:c.A129C:p.R43S;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.A129C:p.R43S;ENSG00000167210:ENST00000536736:exon1:c.A129C:p.R43S;	0.73000467222119	0.518
18	44236869	C	A	18	46656906	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon1:c.G128T:p.R43I;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.G128T:p.R43I;ENSG00000167210:ENST00000536736:exon1:c.G128T:p.R43I;	4.17967134734297E-4	0.03
18	44236869	C	G	18	46656906	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon1:c.G128C:p.R43T;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.G128C:p.R43T;ENSG00000167210:ENST00000536736:exon1:c.G128C:p.R43T;	1.6878927902082E-5	0.004
18	44236869	C	T	18	46656906	y	y	exonic	LOXHD1	nonsynonymous SNV	LOXHD1:NM_144612:exon1:c.G128A:p.R43K;	exonic	ENSG00000167210	nonsynonymous SNV	ENSG00000167210:ENST00000441551:exon1:c.G128A:p.R43K;ENSG00000167210:ENST00000536736:exon1:c.G128A:p.R43K;	1.2381200527181E-5	0.006
18	44260472	A	C	18	46680509	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon7:c.T664G:p.F222V;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon7:c.T664G:p.F222V;ENSG00000101638:ENST00000538168:exon8:c.T772G:p.F258V;ENSG00000101638:ENST00000536490:exon6:c.T571G:p.F191V;	0.0822823785159801	0.36
18	44260472	A	G	18	46680509	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon7:c.T664C:p.F222L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon7:c.T664C:p.F222L;ENSG00000101638:ENST00000538168:exon8:c.T772C:p.F258L;ENSG00000101638:ENST00000536490:exon6:c.T571C:p.F191L;	0.149705119566816	0.388
18	44260472	A	T	18	46680509	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon7:c.T664A:p.F222I;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon7:c.T664A:p.F222I;ENSG00000101638:ENST00000538168:exon8:c.T772A:p.F258I;ENSG00000101638:ENST00000536490:exon6:c.T571A:p.F191I;	0.141133405606311	0.392
18	44260473	C	A	18	46680510	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon7:c.G663T:p.R221S;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon7:c.G663T:p.R221S;ENSG00000101638:ENST00000538168:exon8:c.G771T:p.R257S;ENSG00000101638:ENST00000536490:exon6:c.G570T:p.R190S;	0.999857171772528	0.986
18	44260473	C	G	18	46680510	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon7:c.G663C:p.R221S;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon7:c.G663C:p.R221S;ENSG00000101638:ENST00000538168:exon8:c.G771C:p.R257S;ENSG00000101638:ENST00000536490:exon6:c.G570C:p.R190S;	0.999727555142939	0.978
18	44260473	C	T	18	46680510	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon7:c.G663A:p.R221R;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon7:c.G663A:p.R221R;ENSG00000101638:ENST00000538168:exon8:c.G771A:p.R257R;ENSG00000101638:ENST00000536490:exon6:c.G570A:p.R190R;	0.984102412175147	0.766
18	44260474	C	A	18	46680511	y	y	splicing	ST8SIA5(NM_013305:exon8:c.663-1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon8:c.663-1G>T;ENST00000538168:exon9:c.771-1G>T;ENST00000536490:exon7:c.570-1G>T)	.	.	0.999986675681007	0.952
18	44260474	C	G	18	46680511	y	y	splicing	ST8SIA5(NM_013305:exon8:c.663-1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon8:c.663-1G>C;ENST00000538168:exon9:c.771-1G>C;ENST00000536490:exon7:c.570-1G>C)	.	.	0.999986675681007	0.952
18	44260474	C	T	18	46680511	y	y	splicing	ST8SIA5(NM_013305:exon8:c.663-1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon8:c.663-1G>A;ENST00000538168:exon9:c.771-1G>A;ENST00000536490:exon7:c.570-1G>A)	.	.	0.999986675681007	0.952
18	44260475	T	A	18	46680512	y	y	splicing	ST8SIA5(NM_013305:exon8:c.663-2A>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon8:c.663-2A>T;ENST00000538168:exon9:c.771-2A>T;ENST00000536490:exon7:c.570-2A>T)	.	.	0.999989917668626	0.942
18	44260475	T	C	18	46680512	y	y	splicing	ST8SIA5(NM_013305:exon8:c.663-2A>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon8:c.663-2A>G;ENST00000538168:exon9:c.771-2A>G;ENST00000536490:exon7:c.570-2A>G)	.	.	0.999989917668626	0.942
18	44260475	T	G	18	46680512	y	y	splicing	ST8SIA5(NM_013305:exon8:c.663-2A>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon8:c.663-2A>C;ENST00000538168:exon9:c.771-2A>C;ENST00000536490:exon7:c.570-2A>C)	.	.	0.999989917668626	0.942
18	44260476	A	C	18	46680513	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.997172813896984	0.798
18	44260476	A	G	18	46680513	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.81742934879927E-5	0.014
18	44260476	A	T	18	46680513	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0277425157584242	0.344
18	44260477	C	A	18	46680514	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.47424675013018E-4	0.006
18	44260477	C	G	18	46680514	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.50794596562307E-4	0.0
18	44260477	C	T	18	46680514	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.21833930896428E-4	0.026
18	44260478	A	C	18	46680515	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0261008274436115	0.356
18	44260478	A	G	18	46680515	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.62480332037339E-5	0.006
18	44260478	A	T	18	46680515	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.924758295937079	0.792
18	44260479	C	A	18	46680516	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.22489305459283E-5	0.032
18	44260479	C	G	18	46680516	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.40632470709329E-5	0.006
18	44260479	C	T	18	46680516	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.44385544297119E-5	0.036
18	44260480	A	C	18	46680517	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.71617843651807E-4	0.076
18	44260480	A	G	18	46680517	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.04441934522411E-4	0.016
18	44260480	A	T	18	46680517	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.952888798197111	0.558
18	44260481	G	A	18	46680518	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.40664864900052E-5	0.008
18	44260481	G	C	18	46680518	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00124214325044198	0.136
18	44260481	G	T	18	46680518	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.48538186416462E-4	0.16
18	44260482	G	A	18	46680519	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.06684235489552E-4	0.016
18	44260482	G	C	18	46680519	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0103918285518117	0.136
18	44260482	G	T	18	46680519	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0108779839198702	0.098
18	44260483	G	A	18	46680520	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.54431388889987E-5	0.0
18	44260483	G	C	18	46680520	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00320961140223692	0.08
18	44260483	G	T	18	46680520	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00129028691452202	0.078
18	44260484	C	A	18	46680521	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.49811543647207E-5	0.046
18	44260484	C	G	18	46680521	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.25567088044491E-5	0.004
18	44260484	C	T	18	46680521	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.19779031977047E-5	0.046
18	44260485	G	A	18	46680522	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.55908716824608E-5	0.0
18	44260485	G	C	18	46680522	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.92811524551633E-4	0.042
18	44260485	G	T	18	46680522	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.978535310981611	0.888
18	44261927	C	A	18	46681964	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.6078378219293E-4	0.002
18	44261927	C	G	18	46681964	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.97978205410496E-4	0.002
18	44261927	C	T	18	46681964	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.30360473062164E-4	0.0
18	44261928	C	A	18	46681965	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.24535375988458E-4	0.008
18	44261928	C	G	18	46681965	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.71310603785788E-4	0.0
18	44261928	C	T	18	46681965	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.52481863586033E-4	0.002
18	44261929	A	C	18	46681966	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.906742101644722	0.582
18	44261929	A	G	18	46681966	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.889063157572355	0.578
18	44261929	A	T	18	46681966	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.958705188734151	0.556
18	44261930	C	A	18	46681967	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.966761436873999	0.882
18	44261930	C	G	18	46681967	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.998644604468803	0.918
18	44261930	C	T	18	46681967	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.998929757958875	0.962
18	44261931	T	A	18	46681968	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.977668527503774	0.782
18	44261931	T	C	18	46681968	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.850354112385397	0.612
18	44261931	T	G	18	46681968	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.991610282887034	0.724
18	44261932	G	A	18	46681969	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.98290762840935E-5	0.004
18	44261932	G	C	18	46681969	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.74286293742557E-4	0.066
18	44261932	G	T	18	46681969	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.44824972931982E-4	0.056
18	44261933	A	C	18	46681970	y	y	splicing	ST8SIA5(NM_013305:exon7:c.662+2T>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.662+2T>G;ENST00000538168:exon8:c.770+2T>G;ENST00000536490:exon6:c.569+2T>G)	.	.	0.999989917668626	0.916
18	44261933	A	G	18	46681970	y	y	splicing	ST8SIA5(NM_013305:exon7:c.662+2T>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.662+2T>C;ENST00000538168:exon8:c.770+2T>C;ENST00000536490:exon6:c.569+2T>C)	.	.	0.993179459523591	0.65
18	44261933	A	T	18	46681970	y	y	splicing	ST8SIA5(NM_013305:exon7:c.662+2T>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.662+2T>A;ENST00000538168:exon8:c.770+2T>A;ENST00000536490:exon6:c.569+2T>A)	.	.	0.999989917668626	0.916
18	44261934	C	A	18	46681971	y	y	splicing	ST8SIA5(NM_013305:exon7:c.662+1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.662+1G>T;ENST00000538168:exon8:c.770+1G>T;ENST00000536490:exon6:c.569+1G>T)	.	.	0.999981760802075	0.932
18	44261934	C	G	18	46681971	y	y	splicing	ST8SIA5(NM_013305:exon7:c.662+1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.662+1G>C;ENST00000538168:exon8:c.770+1G>C;ENST00000536490:exon6:c.569+1G>C)	.	.	0.999981760802075	0.932
18	44261934	C	T	18	46681971	y	y	splicing	ST8SIA5(NM_013305:exon7:c.662+1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.662+1G>A;ENST00000538168:exon8:c.770+1G>A;ENST00000536490:exon6:c.569+1G>A)	.	.	0.999981760802075	0.932
18	44261935	C	A	18	46681972	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.G662T:p.R221M;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G662T:p.R221M;ENSG00000101638:ENST00000538168:exon7:c.G770T:p.R257M;ENSG00000101638:ENST00000536490:exon5:c.G569T:p.R190M;	0.999974539379903	0.962
18	44261935	C	G	18	46681972	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.G662C:p.R221T;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G662C:p.R221T;ENSG00000101638:ENST00000538168:exon7:c.G770C:p.R257T;ENSG00000101638:ENST00000536490:exon5:c.G569C:p.R190T;	0.999994210521769	0.98
18	44261935	C	T	18	46681972	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.G662A:p.R221K;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G662A:p.R221K;ENSG00000101638:ENST00000538168:exon7:c.G770A:p.R257K;ENSG00000101638:ENST00000536490:exon5:c.G569A:p.R190K;	0.999992051498057	0.998
18	44261936	T	A	18	46681973	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.A661T:p.R221W;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.A661T:p.R221W;ENSG00000101638:ENST00000538168:exon7:c.A769T:p.R257W;ENSG00000101638:ENST00000536490:exon5:c.A568T:p.R190W;	0.999759634685179	0.954
18	44261936	T	C	18	46681973	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.A661G:p.R221G;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.A661G:p.R221G;ENSG00000101638:ENST00000538168:exon7:c.A769G:p.R257G;ENSG00000101638:ENST00000536490:exon5:c.A568G:p.R190G;	0.99977753103519	0.936
18	44261936	T	G	18	46681973	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon6:c.A661C:p.R221R;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.A661C:p.R221R;ENSG00000101638:ENST00000538168:exon7:c.A769C:p.R257R;ENSG00000101638:ENST00000536490:exon5:c.A568C:p.R190R;	0.971083522462375	0.802
18	44261937	C	A	18	46681974	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.G660T:p.E220D;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G660T:p.E220D;ENSG00000101638:ENST00000538168:exon7:c.G768T:p.E256D;ENSG00000101638:ENST00000536490:exon5:c.G567T:p.E189D;	7.2040624812174E-4	0.184
18	44261937	C	G	18	46681974	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.G660C:p.E220D;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G660C:p.E220D;ENSG00000101638:ENST00000538168:exon7:c.G768C:p.E256D;ENSG00000101638:ENST00000536490:exon5:c.G567C:p.E189D;	6.39699086723324E-5	0.146
18	44261937	C	T	18	46681974	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon6:c.G660A:p.E220E;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G660A:p.E220E;ENSG00000101638:ENST00000538168:exon7:c.G768A:p.E256E;ENSG00000101638:ENST00000536490:exon5:c.G567A:p.E189E;	1.28347679924705E-4	0.002
18	44262026	A	C	18	46682063	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.T571G:p.C191G;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.T571G:p.C191G;ENSG00000101638:ENST00000538168:exon7:c.T679G:p.C227G;ENSG00000101638:ENST00000536490:exon5:c.T478G:p.C160G;	0.165069007931344	0.568
18	44262026	A	G	18	46682063	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.T571C:p.C191R;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.T571C:p.C191R;ENSG00000101638:ENST00000538168:exon7:c.T679C:p.C227R;ENSG00000101638:ENST00000536490:exon5:c.T478C:p.C160R;	0.211950272780748	0.556
18	44262026	A	T	18	46682063	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon6:c.T571A:p.C191S;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.T571A:p.C191S;ENSG00000101638:ENST00000538168:exon7:c.T679A:p.C227S;ENSG00000101638:ENST00000536490:exon5:c.T478A:p.C160S;	0.194175818051081	0.574
18	44262027	C	A	18	46682064	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon6:c.G570T:p.R190R;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G570T:p.R190R;ENSG00000101638:ENST00000538168:exon7:c.G678T:p.R226R;ENSG00000101638:ENST00000536490:exon5:c.G477T:p.R159R;	0.169487919208019	0.494
18	44262027	C	G	18	46682064	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon6:c.G570C:p.R190R;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G570C:p.R190R;ENSG00000101638:ENST00000538168:exon7:c.G678C:p.R226R;ENSG00000101638:ENST00000536490:exon5:c.G477C:p.R159R;	0.0756034578135361	0.394
18	44262027	C	T	18	46682064	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon6:c.G570A:p.R190R;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon6:c.G570A:p.R190R;ENSG00000101638:ENST00000538168:exon7:c.G678A:p.R226R;ENSG00000101638:ENST00000536490:exon5:c.G477A:p.R159R;	0.0218238511947135	0.204
18	44262028	C	A	18	46682065	y	y	splicing	ST8SIA5(NM_013305:exon7:c.570-1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.570-1G>T;ENST00000538168:exon8:c.678-1G>T;ENST00000536490:exon6:c.477-1G>T)	.	.	0.999981760802075	0.94
18	44262028	C	G	18	46682065	y	y	splicing	ST8SIA5(NM_013305:exon7:c.570-1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.570-1G>C;ENST00000538168:exon8:c.678-1G>C;ENST00000536490:exon6:c.477-1G>C)	.	.	0.999981760802075	0.94
18	44262028	C	T	18	46682065	y	y	splicing	ST8SIA5(NM_013305:exon7:c.570-1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.570-1G>A;ENST00000538168:exon8:c.678-1G>A;ENST00000536490:exon6:c.477-1G>A)	.	.	0.999981760802075	0.94
18	44262029	T	A	18	46682066	y	y	splicing	ST8SIA5(NM_013305:exon7:c.570-2A>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.570-2A>T;ENST00000538168:exon8:c.678-2A>T;ENST00000536490:exon6:c.477-2A>T)	.	.	0.999989917668626	0.928
18	44262029	T	C	18	46682066	y	y	splicing	ST8SIA5(NM_013305:exon7:c.570-2A>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.570-2A>G;ENST00000538168:exon8:c.678-2A>G;ENST00000536490:exon6:c.477-2A>G)	.	.	0.999989917668626	0.928
18	44262029	T	G	18	46682066	y	y	splicing	ST8SIA5(NM_013305:exon7:c.570-2A>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon7:c.570-2A>C;ENST00000538168:exon8:c.678-2A>C;ENST00000536490:exon6:c.477-2A>C)	.	.	0.999989917668626	0.928
18	44262030	G	A	18	46682067	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0609639146792637	0.168
18	44262030	G	C	18	46682067	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.9997449800413	0.852
18	44262030	G	T	18	46682067	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.560030977679167	0.51
18	44262031	C	A	18	46682068	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.26020205666144E-4	0.022
18	44262031	C	G	18	46682068	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.97502362119708E-4	0.0
18	44262031	C	T	18	46682068	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.26020205666144E-4	0.012
18	44262032	A	C	18	46682069	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.50874558586402E-4	0.16
18	44262032	A	G	18	46682069	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.06035884020952E-4	0.014
18	44262032	A	T	18	46682069	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.964644913280053	0.696
18	44262033	G	A	18	46682070	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.97818535023652E-5	0.008
18	44262033	G	C	18	46682070	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.74318963617686E-4	0.116
18	44262033	G	T	18	46682070	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.43136347913533E-4	0.108
18	44262034	A	C	18	46682071	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00606292033738211	0.108
18	44262034	A	G	18	46682071	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00194352111899423	0.032
18	44262034	A	T	18	46682071	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00502547597062158	0.102
18	44262035	A	C	18	46682072	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.34378714523602E-4	0.072
18	44262035	A	G	18	46682072	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.18052749642155E-4	0.052
18	44262035	A	T	18	46682072	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.34378714523602E-4	0.082
18	44262036	G	A	18	46682073	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.27231432644813E-5	0.0
18	44262036	G	C	18	46682073	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.71564055614621E-5	0.002
18	44262036	G	T	18	46682073	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.12869375216267E-5	0.012
18	44262037	A	C	18	46682074	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.78770330047069E-4	0.104
18	44262037	A	G	18	46682074	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.3165816096537E-5	0.002
18	44262037	A	T	18	46682074	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.86917451942144E-4	0.082
18	44262038	G	A	18	46682075	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.25204947159058E-5	0.0
18	44262038	G	C	18	46682075	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.97008482316337E-5	0.004
18	44262038	G	T	18	46682075	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.42907086034142E-4	0.022
18	44262039	A	C	18	46682076	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.5935494339969E-4	0.076
18	44262039	A	G	18	46682076	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.47166420214142E-4	0.01
18	44262039	A	T	18	46682076	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.54636528113005E-4	0.166
18	44266129	T	A	18	46686166	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.68071517788067E-5	0.002
18	44266129	T	C	18	46686166	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.2655008709608E-4	0.006
18	44266129	T	G	18	46686166	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67948068319571E-5	0.004
18	44266130	C	A	18	46686167	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.91313414779588E-4	0.0
18	44266130	C	G	18	46686167	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.47164414686468E-5	0.004
18	44266130	C	T	18	46686167	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.53035373535721E-4	0.004
18	44266131	T	A	18	46686168	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.87219105773556E-5	0.02
18	44266131	T	C	18	46686168	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.00153437564537E-4	0.002
18	44266131	T	G	18	46686168	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00973577922453789	0.096
18	44266132	T	A	18	46686169	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.9152604468563E-4	0.106
18	44266132	T	C	18	46686169	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.05173237333512E-5	0.02
18	44266132	T	G	18	46686169	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.19097686418249E-4	0.096
18	44266133	T	A	18	46686170	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.945351227462167	0.626
18	44266133	T	C	18	46686170	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.985415818002156	0.762
18	44266133	T	G	18	46686170	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.970806914257213	0.632
18	44266134	T	A	18	46686171	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999920256421005	0.956
18	44266134	T	C	18	46686171	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.996691017510017	0.918
18	44266134	T	G	18	46686171	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999920991633273	0.964
18	44266135	A	C	18	46686172	y	y	splicing	ST8SIA5(NM_013305:exon6:c.569+2T>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.569+2T>G;ENST00000538168:exon7:c.677+2T>G;ENST00000536490:exon5:c.476+2T>G)	.	.	0.999992446697775	0.92
18	44266135	A	G	18	46686172	y	y	splicing	ST8SIA5(NM_013305:exon6:c.569+2T>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.569+2T>C;ENST00000538168:exon7:c.677+2T>C;ENST00000536490:exon5:c.476+2T>C)	.	.	0.999945459353209	0.864
18	44266135	A	T	18	46686172	y	y	splicing	ST8SIA5(NM_013305:exon6:c.569+2T>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.569+2T>A;ENST00000538168:exon7:c.677+2T>A;ENST00000536490:exon5:c.476+2T>A)	.	.	0.999992446697775	0.92
18	44266136	C	A	18	46686173	y	y	splicing	ST8SIA5(NM_013305:exon6:c.569+1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.569+1G>T;ENST00000538168:exon7:c.677+1G>T;ENST00000536490:exon5:c.476+1G>T)	.	.	0.999988247793601	0.918
18	44266136	C	G	18	46686173	y	y	splicing	ST8SIA5(NM_013305:exon6:c.569+1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.569+1G>C;ENST00000538168:exon7:c.677+1G>C;ENST00000536490:exon5:c.476+1G>C)	.	.	0.999988247793601	0.918
18	44266136	C	T	18	46686173	y	y	splicing	ST8SIA5(NM_013305:exon6:c.569+1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.569+1G>A;ENST00000538168:exon7:c.677+1G>A;ENST00000536490:exon5:c.476+1G>A)	.	.	0.999988247793601	0.918
18	44266137	C	A	18	46686174	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.G569T:p.R190L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.G569T:p.R190L;ENSG00000101638:ENST00000538168:exon6:c.G677T:p.R226L;ENSG00000101638:ENST00000536490:exon4:c.G476T:p.R159L;	0.999990847030859	0.964
18	44266137	C	G	18	46686174	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.G569C:p.R190P;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.G569C:p.R190P;ENSG00000101638:ENST00000538168:exon6:c.G677C:p.R226P;ENSG00000101638:ENST00000536490:exon4:c.G476C:p.R159P;	0.999996726935416	0.996
18	44266137	C	T	18	46686174	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.G569A:p.R190Q;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.G569A:p.R190Q;ENSG00000101638:ENST00000538168:exon6:c.G677A:p.R226Q;ENSG00000101638:ENST00000536490:exon4:c.G476A:p.R159Q;	0.999996350181092	1.0
18	44266138	G	A	18	46686175	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.C568T:p.R190W;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.C568T:p.R190W;ENSG00000101638:ENST00000538168:exon6:c.C676T:p.R226W;ENSG00000101638:ENST00000536490:exon4:c.C475T:p.R159W;	0.304741900624677	0.366
18	44266138	G	C	18	46686175	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.C568G:p.R190G;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.C568G:p.R190G;ENSG00000101638:ENST00000538168:exon6:c.C676G:p.R226G;ENSG00000101638:ENST00000536490:exon4:c.C475G:p.R159G;	0.00210057981976263	0.114
18	44266138	G	T	18	46686175	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon5:c.C568A:p.R190R;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.C568A:p.R190R;ENSG00000101638:ENST00000538168:exon6:c.C676A:p.R226R;ENSG00000101638:ENST00000536490:exon4:c.C475A:p.R159R;	1.27108688367593E-4	0.076
18	44266139	G	A	18	46686176	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon5:c.C567T:p.F189F;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.C567T:p.F189F;ENSG00000101638:ENST00000538168:exon6:c.C675T:p.F225F;ENSG00000101638:ENST00000536490:exon4:c.C474T:p.F158F;	0.132056901183417	0.39
18	44266139	G	C	18	46686176	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.C567G:p.F189L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.C567G:p.F189L;ENSG00000101638:ENST00000538168:exon6:c.C675G:p.F225L;ENSG00000101638:ENST00000536490:exon4:c.C474G:p.F158L;	0.0827792423402724	0.216
18	44266139	G	T	18	46686176	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.C567A:p.F189L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.C567A:p.F189L;ENSG00000101638:ENST00000538168:exon6:c.C675A:p.F225L;ENSG00000101638:ENST00000536490:exon4:c.C474A:p.F158L;	0.00153095248639652	0.118
18	44266248	T	A	18	46686285	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.A458T:p.D153V;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.A458T:p.D153V;ENSG00000101638:ENST00000538168:exon6:c.A566T:p.D189V;ENSG00000101638:ENST00000536490:exon4:c.A365T:p.D122V;	0.668405697624553	0.788
18	44266248	T	C	18	46686285	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.A458G:p.D153G;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.A458G:p.D153G;ENSG00000101638:ENST00000538168:exon6:c.A566G:p.D189G;ENSG00000101638:ENST00000536490:exon4:c.A365G:p.D122G;	0.577757201892717	0.77
18	44266248	T	G	18	46686285	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.A458C:p.D153A;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.A458C:p.D153A;ENSG00000101638:ENST00000538168:exon6:c.A566C:p.D189A;ENSG00000101638:ENST00000536490:exon4:c.A365C:p.D122A;	0.703873217752213	0.746
18	44266249	C	A	18	46686286	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.G457T:p.D153Y;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.G457T:p.D153Y;ENSG00000101638:ENST00000538168:exon6:c.G565T:p.D189Y;ENSG00000101638:ENST00000536490:exon4:c.G364T:p.D122Y;	0.999612308682735	0.976
18	44266249	C	G	18	46686286	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.G457C:p.D153H;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.G457C:p.D153H;ENSG00000101638:ENST00000538168:exon6:c.G565C:p.D189H;ENSG00000101638:ENST00000536490:exon4:c.G364C:p.D122H;	0.999196841742734	0.932
18	44266249	C	T	18	46686286	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon5:c.G457A:p.D153N;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon5:c.G457A:p.D153N;ENSG00000101638:ENST00000538168:exon6:c.G565A:p.D189N;ENSG00000101638:ENST00000536490:exon4:c.G364A:p.D122N;	0.990530914404093	0.85
18	44266250	C	A	18	46686287	y	y	splicing	ST8SIA5(NM_013305:exon6:c.457-1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.457-1G>T;ENST00000538168:exon7:c.565-1G>T;ENST00000536490:exon5:c.364-1G>T)	.	.	0.999988247793601	0.93
18	44266250	C	G	18	46686287	y	y	splicing	ST8SIA5(NM_013305:exon6:c.457-1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.457-1G>C;ENST00000538168:exon7:c.565-1G>C;ENST00000536490:exon5:c.364-1G>C)	.	.	0.999988247793601	0.93
18	44266250	C	T	18	46686287	y	y	splicing	ST8SIA5(NM_013305:exon6:c.457-1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.457-1G>A;ENST00000538168:exon7:c.565-1G>A;ENST00000536490:exon5:c.364-1G>A)	.	.	0.999988247793601	0.93
18	44266251	T	A	18	46686288	y	y	splicing	ST8SIA5(NM_013305:exon6:c.457-2A>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.457-2A>T;ENST00000538168:exon7:c.565-2A>T;ENST00000536490:exon5:c.364-2A>T)	.	.	0.999993519952936	0.928
18	44266251	T	C	18	46686288	y	y	splicing	ST8SIA5(NM_013305:exon6:c.457-2A>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.457-2A>G;ENST00000538168:exon7:c.565-2A>G;ENST00000536490:exon5:c.364-2A>G)	.	.	0.999993519952936	0.928
18	44266251	T	G	18	46686288	y	y	splicing	ST8SIA5(NM_013305:exon6:c.457-2A>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon6:c.457-2A>C;ENST00000538168:exon7:c.565-2A>C;ENST00000536490:exon5:c.364-2A>C)	.	.	0.999993519952936	0.928
18	44266252	G	A	18	46686289	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0430323038270623	0.14
18	44266252	G	C	18	46686289	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999549595697727	0.968
18	44266252	G	T	18	46686289	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.977535705464675	0.802
18	44266253	G	A	18	46686290	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00216292604151457	0.042
18	44266253	G	C	18	46686290	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00437602577043194	0.042
18	44266253	G	T	18	46686290	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00437602577043194	0.04
18	44266254	G	A	18	46686291	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.43890962032922E-4	0.004
18	44266254	G	C	18	46686291	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00606019311244208	0.118
18	44266254	G	T	18	46686291	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00182119307192749	0.1
18	44266255	G	A	18	46686292	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.32662748570929E-5	0.0
18	44266255	G	C	18	46686292	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00858288997081214	0.188
18	44266255	G	T	18	46686292	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00792149255094991	0.172
18	44266256	G	A	18	46686293	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.12089730107283E-5	0.0
18	44266256	G	C	18	46686293	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00805631124654479	0.084
18	44266256	G	T	18	46686293	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00648261036220603	0.098
18	44266257	A	C	18	46686294	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.96192612284926E-4	0.068
18	44266257	A	G	18	46686294	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.02073830457784E-5	0.0
18	44266257	A	T	18	46686294	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0151659360415808	0.09
18	44266258	G	A	18	46686295	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.78197221711759E-4	0.004
18	44266258	G	C	18	46686295	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.50564683402798E-4	0.052
18	44266258	G	T	18	46686295	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00111691963480208	0.074
18	44266259	G	A	18	46686296	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.58716764222823E-5	0.0
18	44266259	G	C	18	46686296	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.174642512166E-4	0.002
18	44266259	G	T	18	46686296	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.52036921118597E-4	0.024
18	44266260	C	A	18	46686297	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.32033374654319E-4	0.004
18	44266260	C	G	18	46686297	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.86786826237007E-5	0.002
18	44266260	C	T	18	46686297	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.54218132314262E-4	0.0
18	44266261	A	C	18	46686298	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.22073127258639	0.412
18	44266261	A	G	18	46686298	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.74733754310756E-4	0.004
18	44266261	A	T	18	46686298	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999677639707677	0.982
18	44268730	A	C	18	46688767	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.95718443853122E-4	0.01
18	44268730	A	G	18	46688767	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.52233737986935E-4	0.01
18	44268730	A	T	18	46688767	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.84949801400062E-4	0.034
18	44268731	G	A	18	46688768	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.99379817954877E-4	0.05
18	44268731	G	C	18	46688768	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.70557612211534E-4	0.006
18	44268731	G	T	18	46688768	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.72858055735619E-4	0.058
18	44268732	C	A	18	46688769	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.7438394674264E-5	0.038
18	44268732	C	G	18	46688769	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.46389726554552E-4	0.152
18	44268732	C	T	18	46688769	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00641019940683772	0.104
18	44268733	A	C	18	46688770	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.88986730487613E-5	0.016
18	44268733	A	G	18	46688770	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.3526469685964E-5	0.028
18	44268733	A	T	18	46688770	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.72621429720344E-5	0.022
18	44268734	G	A	18	46688771	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0488322972308124	0.212
18	44268734	G	C	18	46688771	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.284328367166609	0.25
18	44268734	G	T	18	46688771	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.80003131659455E-4	0.042
18	44268735	C	A	18	46688772	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.966836362105407	0.836
18	44268735	C	G	18	46688772	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.997803330199882	0.794
18	44268735	C	T	18	46688772	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.23086981164585E-4	0.102
18	44268736	A	C	18	46688773	y	y	splicing	ST8SIA5(NM_013305:exon5:c.456+2T>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.456+2T>G;ENST00000538168:exon6:c.564+2T>G;ENST00000536490:exon4:c.363+2T>G)	.	.	0.999986741007567	0.936
18	44268736	A	G	18	46688773	y	y	splicing	ST8SIA5(NM_013305:exon5:c.456+2T>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.456+2T>C;ENST00000538168:exon6:c.564+2T>C;ENST00000536490:exon4:c.363+2T>C)	.	.	0.999978537346971	0.944
18	44268736	A	T	18	46688773	y	y	splicing	ST8SIA5(NM_013305:exon5:c.456+2T>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.456+2T>A;ENST00000538168:exon6:c.564+2T>A;ENST00000536490:exon4:c.363+2T>A)	.	.	0.999986741007567	0.936
18	44268737	C	A	18	46688774	y	y	splicing	ST8SIA5(NM_013305:exon5:c.456+1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.456+1G>T;ENST00000538168:exon6:c.564+1G>T;ENST00000536490:exon4:c.363+1G>T)	.	.	0.999984967332678	0.938
18	44268737	C	G	18	46688774	y	y	splicing	ST8SIA5(NM_013305:exon5:c.456+1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.456+1G>C;ENST00000538168:exon6:c.564+1G>C;ENST00000536490:exon4:c.363+1G>C)	.	.	0.999984967332678	0.938
18	44268737	C	T	18	46688774	y	y	splicing	ST8SIA5(NM_013305:exon5:c.456+1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.456+1G>A;ENST00000538168:exon6:c.564+1G>A;ENST00000536490:exon4:c.363+1G>A)	.	.	0.999984967332678	0.938
18	44268738	C	A	18	46688775	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.G456T:p.K152N;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.G456T:p.K152N;ENSG00000101638:ENST00000538168:exon5:c.G564T:p.K188N;ENSG00000101638:ENST00000536490:exon3:c.G363T:p.K121N;	0.999995696119909	1.0
18	44268738	C	G	18	46688775	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.G456C:p.K152N;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.G456C:p.K152N;ENSG00000101638:ENST00000538168:exon5:c.G564C:p.K188N;ENSG00000101638:ENST00000536490:exon3:c.G363C:p.K121N;	0.999997772212205	1.0
18	44268738	C	T	18	46688775	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon4:c.G456A:p.K152K;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.G456A:p.K152K;ENSG00000101638:ENST00000538168:exon5:c.G564A:p.K188K;ENSG00000101638:ENST00000536490:exon3:c.G363A:p.K121K;	0.999995136148728	1.0
18	44268739	T	A	18	46688776	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.A455T:p.K152M;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.A455T:p.K152M;ENSG00000101638:ENST00000538168:exon5:c.A563T:p.K188M;ENSG00000101638:ENST00000536490:exon3:c.A362T:p.K121M;	0.999939006187695	0.992
18	44268739	T	C	18	46688776	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.A455G:p.K152R;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.A455G:p.K152R;ENSG00000101638:ENST00000538168:exon5:c.A563G:p.K188R;ENSG00000101638:ENST00000536490:exon3:c.A362G:p.K121R;	0.999962826690241	0.972
18	44268739	T	G	18	46688776	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.A455C:p.K152T;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.A455C:p.K152T;ENSG00000101638:ENST00000538168:exon5:c.A563C:p.K188T;ENSG00000101638:ENST00000536490:exon3:c.A362C:p.K121T;	0.999938746908716	0.99
18	44268740	T	A	18	46688777	y	y	exonic	ST8SIA5	stopgain SNV	ST8SIA5:NM_013305:exon4:c.A454T:p.K152X;	exonic	ENSG00000101638	stopgain SNV	ENSG00000101638:ENST00000315087:exon4:c.A454T:p.K152X;ENSG00000101638:ENST00000538168:exon5:c.A562T:p.K188X;ENSG00000101638:ENST00000536490:exon3:c.A361T:p.K121X;	0.998413068982035	0.872
18	44268740	T	C	18	46688777	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.A454G:p.K152E;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.A454G:p.K152E;ENSG00000101638:ENST00000538168:exon5:c.A562G:p.K188E;ENSG00000101638:ENST00000536490:exon3:c.A361G:p.K121E;	0.694159643845563	0.468
18	44268740	T	G	18	46688777	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.A454C:p.K152Q;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.A454C:p.K152Q;ENSG00000101638:ENST00000538168:exon5:c.A562C:p.K188Q;ENSG00000101638:ENST00000536490:exon3:c.A361C:p.K121Q;	0.00292561192914016	0.038
18	44268881	A	C	18	46688918	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.T313G:p.S105A;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.T313G:p.S105A;ENSG00000101638:ENST00000538168:exon5:c.T421G:p.S141A;ENSG00000101638:ENST00000536490:exon3:c.T220G:p.S74A;	0.0537507693592542	0.184
18	44268881	A	G	18	46688918	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.T313C:p.S105P;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.T313C:p.S105P;ENSG00000101638:ENST00000538168:exon5:c.T421C:p.S141P;ENSG00000101638:ENST00000536490:exon3:c.T220C:p.S74P;	0.195022083153465	0.266
18	44268881	A	T	18	46688918	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.T313A:p.S105T;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.T313A:p.S105T;ENSG00000101638:ENST00000538168:exon5:c.T421A:p.S141T;ENSG00000101638:ENST00000536490:exon3:c.T220A:p.S74T;	0.165724972847337	0.24
18	44268882	C	A	18	46688919	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.G312T:p.K104N;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.G312T:p.K104N;ENSG00000101638:ENST00000538168:exon5:c.G420T:p.K140N;ENSG00000101638:ENST00000536490:exon3:c.G219T:p.K73N;	0.987407535604637	0.894
18	44268882	C	G	18	46688919	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon4:c.G312C:p.K104N;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.G312C:p.K104N;ENSG00000101638:ENST00000538168:exon5:c.G420C:p.K140N;ENSG00000101638:ENST00000536490:exon3:c.G219C:p.K73N;	0.961819505537478	0.792
18	44268882	C	T	18	46688919	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon4:c.G312A:p.K104K;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon4:c.G312A:p.K104K;ENSG00000101638:ENST00000538168:exon5:c.G420A:p.K140K;ENSG00000101638:ENST00000536490:exon3:c.G219A:p.K73K;	0.751952032201815	0.4
18	44268883	C	A	18	46688920	y	y	splicing	ST8SIA5(NM_013305:exon5:c.312-1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.312-1G>T;ENST00000538168:exon6:c.420-1G>T;ENST00000536490:exon4:c.219-1G>T;ENST00000591375:exon5:c.287-1G>T)	.	.	0.999986675681007	0.926
18	44268883	C	G	18	46688920	y	y	splicing	ST8SIA5(NM_013305:exon5:c.312-1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.312-1G>C;ENST00000538168:exon6:c.420-1G>C;ENST00000536490:exon4:c.219-1G>C;ENST00000591375:exon5:c.287-1G>C)	.	.	0.999986675681007	0.926
18	44268883	C	T	18	46688920	y	y	splicing	ST8SIA5(NM_013305:exon5:c.312-1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.312-1G>A;ENST00000538168:exon6:c.420-1G>A;ENST00000536490:exon4:c.219-1G>A;ENST00000591375:exon5:c.287-1G>A)	.	.	0.999986675681007	0.926
18	44268884	T	A	18	46688921	y	y	splicing	ST8SIA5(NM_013305:exon5:c.312-2A>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.312-2A>T;ENST00000538168:exon6:c.420-2A>T;ENST00000536490:exon4:c.219-2A>T;ENST00000591375:exon5:c.287-2A>T)	.	.	0.999988247793601	0.926
18	44268884	T	C	18	46688921	y	y	splicing	ST8SIA5(NM_013305:exon5:c.312-2A>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.312-2A>G;ENST00000538168:exon6:c.420-2A>G;ENST00000536490:exon4:c.219-2A>G;ENST00000591375:exon5:c.287-2A>G)	.	.	0.999988247793601	0.926
18	44268884	T	G	18	46688921	y	y	splicing	ST8SIA5(NM_013305:exon5:c.312-2A>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon5:c.312-2A>C;ENST00000538168:exon6:c.420-2A>C;ENST00000536490:exon4:c.219-2A>C;ENST00000591375:exon5:c.287-2A>C)	.	.	0.999988247793601	0.926
18	44268885	G	A	18	46688922	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.716721845995487	0.452
18	44268885	G	C	18	46688922	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.99994676644451	0.98
18	44268885	G	T	18	46688922	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.998203474119047	0.938
18	44268886	C	A	18	46688923	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.63823640903736E-4	0.022
18	44268886	C	G	18	46688923	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.52587519189988E-4	0.004
18	44268886	C	T	18	46688923	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00125289651816699	0.002
18	44268887	C	A	18	46688924	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.09149182114307E-4	0.014
18	44268887	C	G	18	46688924	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.36069947653453E-4	0.014
18	44268887	C	T	18	46688924	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.943595932123384	0.648
18	44268888	A	C	18	46688925	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00190621206780911	0.102
18	44268888	A	G	18	46688925	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.6987107681862E-5	0.028
18	44268888	A	T	18	46688925	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.997462967686998	0.866
18	44268889	G	A	18	46688926	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.02909563170788E-4	0.008
18	44268889	G	C	18	46688926	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00489676075507769	0.096
18	44268889	G	T	18	46688926	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0036725350362775	0.082
18	44268890	G	A	18	46688927	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.01177046792402E-4	0.018
18	44268890	G	C	18	46688927	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0157538171366092	0.078
18	44268890	G	T	18	46688927	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0043701258184832	0.046
18	44268891	C	A	18	46688928	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00316506361549629	0.046
18	44268891	C	G	18	46688928	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00386605392601404	0.054
18	44268891	C	T	18	46688928	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.011653358165078	0.1
18	44268892	A	C	18	46688929	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.82404660128138	0.53
18	44268892	A	G	18	46688929	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.39318595622013E-4	0.072
18	44268892	A	T	18	46688929	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999914173493548	0.974
18	44268893	G	A	18	46688930	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.04322316459348E-5	0.002
18	44268893	G	C	18	46688930	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00272394088409472	0.094
18	44268893	G	T	18	46688930	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00102226926939412	0.054
18	44268894	G	A	18	46688931	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.204851444558487	0.414
18	44268894	G	C	18	46688931	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.820423537024734	0.558
18	44268894	G	T	18	46688931	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.782105657437331	0.546
18	44272124	A	C	18	46692161	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.4330859992583E-4	0.08
18	44272124	A	G	18	46692161	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.16844173131312E-4	0.038
18	44272124	A	T	18	46692161	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.2766580200249E-4	0.072
18	44272125	T	A	18	46692162	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.39551382455816E-4	0.064
18	44272125	T	C	18	46692162	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.29762412488716E-4	0.03
18	44272125	T	G	18	46692162	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.93523354348066E-4	0.208
18	44272126	A	C	18	46692163	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.863743889919023	0.772
18	44272126	A	G	18	46692163	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.992013431936669	0.846
18	44272126	A	T	18	46692163	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.998303543511799	0.78
18	44272127	G	A	18	46692164	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00237079945603061	0.07
18	44272127	G	C	18	46692164	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.81581112951018E-4	0.07
18	44272127	G	T	18	46692164	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.76592321898037E-4	0.176
18	44272128	A	C	18	46692165	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00100772591566604	0.134
18	44272128	A	G	18	46692165	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.83656900302835E-5	0.106
18	44272128	A	T	18	46692165	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.32911840548222E-5	0.008
18	44272129	T	A	18	46692166	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999981538314545	0.956
18	44272129	T	C	18	46692166	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.99978583419549	0.906
18	44272129	T	G	18	46692166	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999971275580428	0.964
18	44272130	A	C	18	46692167	y	y	splicing	ST8SIA5(NM_013305:exon4:c.311+2T>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.311+2T>G;ENST00000538168:exon5:c.419+2T>G;ENST00000536490:exon3:c.218+2T>G;ENST00000591375:exon4:c.286+2T>G)	.	.	0.999982322733069	0.92
18	44272130	A	G	18	46692167	y	y	splicing	ST8SIA5(NM_013305:exon4:c.311+2T>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.311+2T>C;ENST00000538168:exon5:c.419+2T>C;ENST00000536490:exon3:c.218+2T>C;ENST00000591375:exon4:c.286+2T>C)	.	.	0.97779104333483	0.572
18	44272130	A	T	18	46692167	y	y	splicing	ST8SIA5(NM_013305:exon4:c.311+2T>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.311+2T>A;ENST00000538168:exon5:c.419+2T>A;ENST00000536490:exon3:c.218+2T>A;ENST00000591375:exon4:c.286+2T>A)	.	.	0.999982322733069	0.92
18	44272131	C	A	18	46692168	y	y	splicing	ST8SIA5(NM_013305:exon4:c.311+1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.311+1G>T;ENST00000538168:exon5:c.419+1G>T;ENST00000536490:exon3:c.218+1G>T;ENST00000591375:exon4:c.286+1G>T)	.	.	0.999976638640456	0.918
18	44272131	C	G	18	46692168	y	y	splicing	ST8SIA5(NM_013305:exon4:c.311+1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.311+1G>C;ENST00000538168:exon5:c.419+1G>C;ENST00000536490:exon3:c.218+1G>C;ENST00000591375:exon4:c.286+1G>C)	.	.	0.999976638640456	0.918
18	44272131	C	T	18	46692168	y	y	splicing	ST8SIA5(NM_013305:exon4:c.311+1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.311+1G>A;ENST00000538168:exon5:c.419+1G>A;ENST00000536490:exon3:c.218+1G>A;ENST00000591375:exon4:c.286+1G>A)	.	.	0.999976638640456	0.918
18	44272132	T	A	18	46692169	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.A311T:p.K104M;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.A311T:p.K104M;ENSG00000101638:ENST00000538168:exon4:c.A419T:p.K140M;ENSG00000101638:ENST00000536490:exon2:c.A218T:p.K73M;	0.619469882464009	0.492
18	44272132	T	C	18	46692169	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.A311G:p.K104R;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.A311G:p.K104R;ENSG00000101638:ENST00000538168:exon4:c.A419G:p.K140R;ENSG00000101638:ENST00000536490:exon2:c.A218G:p.K73R;	6.22751946465093E-4	0.09
18	44272132	T	G	18	46692169	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.A311C:p.K104T;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.A311C:p.K104T;ENSG00000101638:ENST00000538168:exon4:c.A419C:p.K140T;ENSG00000101638:ENST00000536490:exon2:c.A218C:p.K73T;	0.140434913436573	0.556
18	44272133	T	A	18	46692170	y	y	exonic	ST8SIA5	stopgain SNV	ST8SIA5:NM_013305:exon3:c.A310T:p.K104X;	exonic	ENSG00000101638	stopgain SNV	ENSG00000101638:ENST00000315087:exon3:c.A310T:p.K104X;ENSG00000101638:ENST00000538168:exon4:c.A418T:p.K140X;ENSG00000101638:ENST00000536490:exon2:c.A217T:p.K73X;	0.999854689408805	0.952
18	44272133	T	C	18	46692170	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.A310G:p.K104E;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.A310G:p.K104E;ENSG00000101638:ENST00000538168:exon4:c.A418G:p.K140E;ENSG00000101638:ENST00000536490:exon2:c.A217G:p.K73E;	0.999885523479741	0.984
18	44272133	T	G	18	46692170	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.A310C:p.K104Q;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.A310C:p.K104Q;ENSG00000101638:ENST00000538168:exon4:c.A418C:p.K140Q;ENSG00000101638:ENST00000536490:exon2:c.A217C:p.K73Q;	0.999888211640558	0.988
18	44272134	G	A	18	46692171	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon3:c.C309T:p.F103F;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.C309T:p.F103F;ENSG00000101638:ENST00000538168:exon4:c.C417T:p.F139F;ENSG00000101638:ENST00000536490:exon2:c.C216T:p.F72F;	0.999520698170591	0.938
18	44272134	G	C	18	46692171	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.C309G:p.F103L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.C309G:p.F103L;ENSG00000101638:ENST00000538168:exon4:c.C417G:p.F139L;ENSG00000101638:ENST00000536490:exon2:c.C216G:p.F72L;	0.951778400621502	0.7
18	44272134	G	T	18	46692171	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.C309A:p.F103L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.C309A:p.F103L;ENSG00000101638:ENST00000538168:exon4:c.C417A:p.F139L;ENSG00000101638:ENST00000536490:exon2:c.C216A:p.F72L;	0.924938239534484	0.604
18	44272217	C	A	18	46692254	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.G226T:p.V76L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.G226T:p.V76L;ENSG00000101638:ENST00000538168:exon4:c.G334T:p.V112L;ENSG00000101638:ENST00000536490:exon2:c.G133T:p.V45L;	0.970701621117741	0.822
18	44272217	C	G	18	46692254	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.G226C:p.V76L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.G226C:p.V76L;ENSG00000101638:ENST00000538168:exon4:c.G334C:p.V112L;ENSG00000101638:ENST00000536490:exon2:c.G133C:p.V45L;	0.977656245260634	0.79
18	44272217	C	T	18	46692254	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.G226A:p.V76M;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.G226A:p.V76M;ENSG00000101638:ENST00000538168:exon4:c.G334A:p.V112M;ENSG00000101638:ENST00000536490:exon2:c.G133A:p.V45M;	0.975652142043889	0.788
18	44272218	C	A	18	46692255	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.G225T:p.M75I;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.G225T:p.M75I;ENSG00000101638:ENST00000538168:exon4:c.G333T:p.M111I;ENSG00000101638:ENST00000536490:exon2:c.G132T:p.R44S;	0.999881740599278	0.998
18	44272218	C	G	18	46692255	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.G225C:p.M75I;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.G225C:p.M75I;ENSG00000101638:ENST00000538168:exon4:c.G333C:p.M111I;ENSG00000101638:ENST00000536490:exon2:c.G132C:p.R44S;	0.999766843982888	0.984
18	44272218	C	T	18	46692255	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon3:c.G225A:p.M75I;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon3:c.G225A:p.M75I;ENSG00000101638:ENST00000538168:exon4:c.G333A:p.M111I;	0.999790092789329	0.954
18	44272219	C	A	18	46692256	y	y	splicing	ST8SIA5(NM_013305:exon4:c.225-1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.225-1G>T;ENST00000538168:exon5:c.333-1G>T;ENST00000536490:exon3:c.132-1G>T;ENST00000591375:exon4:c.200-1G>T)	.	.	0.999986675681007	0.926
18	44272219	C	G	18	46692256	y	y	splicing	ST8SIA5(NM_013305:exon4:c.225-1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.225-1G>C;ENST00000538168:exon5:c.333-1G>C;ENST00000536490:exon3:c.132-1G>C;ENST00000591375:exon4:c.200-1G>C)	.	.	0.999986675681007	0.926
18	44272219	C	T	18	46692256	y	y	splicing	ST8SIA5(NM_013305:exon4:c.225-1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.225-1G>A;ENST00000538168:exon5:c.333-1G>A;ENST00000536490:exon3:c.132-1G>A;ENST00000591375:exon4:c.200-1G>A)	.	.	0.999986675681007	0.926
18	44272220	T	A	18	46692257	y	y	splicing	ST8SIA5(NM_013305:exon4:c.225-2A>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.225-2A>T;ENST00000538168:exon5:c.333-2A>T;ENST00000536490:exon3:c.132-2A>T;ENST00000591375:exon4:c.200-2A>T)	.	.	0.999989917668626	0.918
18	44272220	T	C	18	46692257	y	y	splicing	ST8SIA5(NM_013305:exon4:c.225-2A>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.225-2A>G;ENST00000538168:exon5:c.333-2A>G;ENST00000536490:exon3:c.132-2A>G;ENST00000591375:exon4:c.200-2A>G)	.	.	0.999989917668626	0.916
18	44272220	T	G	18	46692257	y	y	splicing	ST8SIA5(NM_013305:exon4:c.225-2A>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon4:c.225-2A>C;ENST00000538168:exon5:c.333-2A>C;ENST00000536490:exon3:c.132-2A>C;ENST00000591375:exon4:c.200-2A>C)	.	.	0.999989917668626	0.916
18	44272221	T	A	18	46692258	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.03221246341124E-5	0.014
18	44272221	T	C	18	46692258	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0516760040456016	0.458
18	44272221	T	G	18	46692258	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.76870441802658E-5	0.022
18	44272222	G	A	18	46692259	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.8848644717936E-5	0.0
18	44272222	G	C	18	46692259	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.70293902600441E-5	0.0
18	44272222	G	T	18	46692259	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.43011880685528E-5	0.0
18	44272223	G	A	18	46692260	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.1359680291421E-4	0.006
18	44272223	G	C	18	46692260	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0382714616804908	0.228
18	44272223	G	T	18	46692260	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0902216454561082	0.222
18	44272224	G	A	18	46692261	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.61153165796608E-4	0.026
18	44272224	G	C	18	46692261	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.603556468848235	0.49
18	44272224	G	T	18	46692261	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.463782937694012	0.472
18	44272225	A	C	18	46692262	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.116508540519451	0.278
18	44272225	A	G	18	46692262	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.38869873067765E-4	0.128
18	44272225	A	T	18	46692262	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.204456365939866	0.254
18	44272226	G	A	18	46692263	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.94067464993225E-5	0.014
18	44272226	G	C	18	46692263	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999849456610664	0.98
18	44272226	G	T	18	46692263	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.76648530981875E-4	0.188
18	44272227	T	A	18	46692264	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.74318540476655E-5	0.0
18	44272227	T	C	18	46692264	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.32490456271885E-5	0.0
18	44272227	T	G	18	46692264	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.17737979823294E-5	0.0
18	44272228	A	C	18	46692265	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00285530607843241	0.086
18	44272228	A	G	18	46692265	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.43234948425994E-4	0.064
18	44272228	A	T	18	46692265	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.85319510724191E-4	0.124
18	44272229	G	A	18	46692266	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.68381961214864E-5	0.004
18	44272229	G	C	18	46692266	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.58767795053816E-4	0.11
18	44272229	G	T	18	46692266	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.05809126258456E-4	0.048
18	44272230	A	C	18	46692267	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0630263478704643	0.466
18	44272230	A	G	18	46692267	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00171435654186853	0.09
18	44272230	A	T	18	46692267	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.126787851997745	0.514
18	44284527	A	C	18	46704564	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.40094287361931E-5	0.0
18	44284527	A	G	18	46704564	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.49098425742819E-5	0.0
18	44284527	A	T	18	46704564	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.50372885865654E-4	0.008
18	44284528	C	A	18	46704565	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.49238429708489E-5	0.002
18	44284528	C	G	18	46704565	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.37713815572305E-5	0.0
18	44284528	C	T	18	46704565	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.41660416073757E-5	0.0
18	44284529	A	C	18	46704566	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.894894742854345	0.72
18	44284529	A	G	18	46704566	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.983589121225696	0.834
18	44284529	A	T	18	46704566	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.973145028773529	0.85
18	44284530	C	A	18	46704567	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999979678917543	0.992
18	44284530	C	G	18	46704567	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.998002581032429	0.844
18	44284530	C	T	18	46704567	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.99990790891613	0.98
18	44284531	T	A	18	46704568	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999315064851808	0.926
18	44284531	T	C	18	46704568	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.996233566089257	0.936
18	44284531	T	G	18	46704568	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.996636547545152	0.88
18	44284532	C	A	18	46704569	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999597477768709	0.702
18	44284532	C	G	18	46704569	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999460073371036	0.74
18	44284532	C	T	18	46704569	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00218964101716798	0.008
18	44284533	A	C	18	46704570	y	y	splicing	ST8SIA5(NM_013305:exon3:c.224+2T>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.224+2T>G;ENST00000538168:exon4:c.332+2T>G;ENST00000591375:exon3:c.199+2T>G)	.	.	0.999990155693597	0.926
18	44284533	A	G	18	46704570	y	y	splicing	ST8SIA5(NM_013305:exon3:c.224+2T>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.224+2T>C;ENST00000538168:exon4:c.332+2T>C;ENST00000591375:exon3:c.199+2T>C)	.	.	0.999928972209748	0.86
18	44284533	A	T	18	46704570	y	y	splicing	ST8SIA5(NM_013305:exon3:c.224+2T>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.224+2T>A;ENST00000538168:exon4:c.332+2T>A;ENST00000591375:exon3:c.199+2T>A)	.	.	0.999990155693597	0.928
18	44284534	C	A	18	46704571	y	y	splicing	ST8SIA5(NM_013305:exon3:c.224+1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.224+1G>T;ENST00000538168:exon4:c.332+1G>T;ENST00000591375:exon3:c.199+1G>T)	.	.	0.999986675681007	0.936
18	44284534	C	G	18	46704571	y	y	splicing	ST8SIA5(NM_013305:exon3:c.224+1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.224+1G>C;ENST00000538168:exon4:c.332+1G>C;ENST00000591375:exon3:c.199+1G>C)	.	.	0.999986675681007	0.934
18	44284534	C	T	18	46704571	y	y	splicing	ST8SIA5(NM_013305:exon3:c.224+1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.224+1G>A;ENST00000538168:exon4:c.332+1G>A;ENST00000591375:exon3:c.199+1G>A)	.	.	0.999986675681007	0.936
18	44284535	A	C	18	46704572	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.T224G:p.M75R;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.T224G:p.M75R;ENSG00000101638:ENST00000538168:exon3:c.T332G:p.M111R;	0.00111852195458319	0.106
18	44284535	A	G	18	46704572	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.T224C:p.M75T;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.T224C:p.M75T;ENSG00000101638:ENST00000538168:exon3:c.T332C:p.M111T;	0.0526059293998703	0.354
18	44284535	A	T	18	46704572	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.T224A:p.M75K;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.T224A:p.M75K;ENSG00000101638:ENST00000538168:exon3:c.T332A:p.M111K;	0.0198732928243163	0.386
18	44284536	T	A	18	46704573	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.A223T:p.M75L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.A223T:p.M75L;ENSG00000101638:ENST00000538168:exon3:c.A331T:p.M111L;	0.998440982183745	0.928
18	44284536	T	C	18	46704573	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.A223G:p.M75V;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.A223G:p.M75V;ENSG00000101638:ENST00000538168:exon3:c.A331G:p.M111V;	0.921634823858816	0.896
18	44284536	T	G	18	46704573	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.A223C:p.M75L;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.A223C:p.M75L;ENSG00000101638:ENST00000538168:exon3:c.A331C:p.M111L;	0.983255966583505	0.892
18	44284537	G	A	18	46704574	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon2:c.C222T:p.S74S;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.C222T:p.S74S;ENSG00000101638:ENST00000538168:exon3:c.C330T:p.S110S;	0.70892361884937	0.74
18	44284537	G	C	18	46704574	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon2:c.C222G:p.S74S;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.C222G:p.S74S;ENSG00000101638:ENST00000538168:exon3:c.C330G:p.S110S;	9.42276275477059E-4	0.01
18	44284537	G	T	18	46704574	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon2:c.C222A:p.S74S;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.C222A:p.S74S;ENSG00000101638:ENST00000538168:exon3:c.C330A:p.S110S;	0.00147158065075768	0.012
18	44284626	A	C	18	46704663	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.T133G:p.Y45D;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.T133G:p.Y45D;ENSG00000101638:ENST00000538168:exon3:c.T241G:p.Y81D;	0.14906619481833	0.324
18	44284626	A	G	18	46704663	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.T133C:p.Y45H;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.T133C:p.Y45H;ENSG00000101638:ENST00000538168:exon3:c.T241C:p.Y81H;	0.0619762229056249	0.364
18	44284626	A	T	18	46704663	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.T133A:p.Y45N;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon2:c.T133A:p.Y45N;ENSG00000101638:ENST00000538168:exon3:c.T241A:p.Y81N;	0.0977710062376757	0.288
18	44284627	C	A	18	46704664	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.G132T:p.R44S;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000591375:exon2:c.G107T:p.G36V;ENSG00000101638:ENST00000315087:exon2:c.G132T:p.R44S;ENSG00000101638:ENST00000538168:exon3:c.G240T:p.R80S;	0.999625007296876	0.972
18	44284627	C	G	18	46704664	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon2:c.G132C:p.R44S;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000591375:exon2:c.G107C:p.G36A;ENSG00000101638:ENST00000315087:exon2:c.G132C:p.R44S;ENSG00000101638:ENST00000538168:exon3:c.G240C:p.R80S;	0.99870698936676	0.962
18	44284627	C	T	18	46704664	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon2:c.G132A:p.R44R;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000591375:exon2:c.G107A:p.G36D;	0.918422076539985	0.6
18	44284628	C	A	18	46704665	y	y	splicing	ST8SIA5(NM_013305:exon3:c.132-1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.132-1G>T;ENST00000538168:exon4:c.240-1G>T;ENST00000591375:exon3:c.107-1G>T)	.	.	0.999986675681007	0.934
18	44284628	C	G	18	46704665	y	y	splicing	ST8SIA5(NM_013305:exon3:c.132-1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.132-1G>C;ENST00000538168:exon4:c.240-1G>C;ENST00000591375:exon3:c.107-1G>C)	.	.	0.999986675681007	0.934
18	44284628	C	T	18	46704665	y	y	splicing	ST8SIA5(NM_013305:exon3:c.132-1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.132-1G>A;ENST00000538168:exon4:c.240-1G>A;ENST00000591375:exon3:c.107-1G>A)	.	.	0.999986675681007	0.934
18	44284629	T	A	18	46704666	y	y	splicing	ST8SIA5(NM_013305:exon3:c.132-2A>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.132-2A>T;ENST00000538168:exon4:c.240-2A>T;ENST00000591375:exon3:c.107-2A>T)	.	.	0.999990155693597	0.926
18	44284629	T	C	18	46704666	y	y	splicing	ST8SIA5(NM_013305:exon3:c.132-2A>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.132-2A>G;ENST00000538168:exon4:c.240-2A>G;ENST00000591375:exon3:c.107-2A>G)	.	.	0.999990155693597	0.926
18	44284629	T	G	18	46704666	y	y	splicing	ST8SIA5(NM_013305:exon3:c.132-2A>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon3:c.132-2A>C;ENST00000538168:exon4:c.240-2A>C;ENST00000591375:exon3:c.107-2A>C)	.	.	0.999990155693597	0.926
18	44284630	G	A	18	46704667	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0047032410066904	0.032
18	44284630	G	C	18	46704667	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999771492518327	0.98
18	44284630	G	T	18	46704667	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.446981555188323	0.652
18	44284631	G	A	18	46704668	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.15614637565174E-4	0.01
18	44284631	G	C	18	46704668	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.97043817452887E-5	0.002
18	44284631	G	T	18	46704668	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.57890557834439E-5	0.0
18	44284632	G	A	18	46704669	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00139050975693029	0.022
18	44284632	G	C	18	46704669	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0410490525311791	0.238
18	44284632	G	T	18	46704669	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0447711458302309	0.218
18	44284633	G	A	18	46704670	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.50709459521486E-5	0.0
18	44284633	G	C	18	46704670	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00328526812562468	0.096
18	44284633	G	T	18	46704670	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00401595005327329	0.122
18	44284634	A	C	18	46704671	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.846414361641601	0.4
18	44284634	A	G	18	46704671	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.66542586124716E-4	0.044
18	44284634	A	T	18	46704671	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.901687427794185	0.514
18	44284635	C	A	18	46704672	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.95792866086172E-5	0.0
18	44284635	C	G	18	46704672	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.71835896161679E-5	0.0
18	44284635	C	T	18	46704672	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.78450056980992E-4	0.014
18	44284636	C	A	18	46704673	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00189693193733502	0.01
18	44284636	C	G	18	46704673	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00219071745689155	0.008
18	44284636	C	T	18	46704673	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.996473778291709	0.838
18	44284637	A	C	18	46704674	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.17875041211512	0.478
18	44284637	A	G	18	46704674	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.26973129300381E-4	0.034
18	44284637	A	T	18	46704674	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999431914524657	0.95
18	44284638	A	C	18	46704675	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.982791160556274	0.832
18	44284638	A	G	18	46704675	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.264579087078253	0.464
18	44284638	A	T	18	46704675	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.994051443276291	0.892
18	44284639	C	A	18	46704676	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.77658083388007E-5	0.018
18	44284639	C	G	18	46704676	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.63412500612043E-5	0.0
18	44284639	C	T	18	46704676	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.79897263049999E-4	0.004
18	44301317	G	A	18	46721354	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.06187793851108E-5	0.006
18	44301317	G	C	18	46721354	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.1978341037935E-5	0.006
18	44301317	G	T	18	46721354	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	7.06187793851108E-5	0.006
18	44301318	T	A	18	46721355	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.15729005645545E-5	0.006
18	44301318	T	C	18	46721355	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.15729005645545E-5	0.004
18	44301318	T	G	18	46721355	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.15729005645545E-5	0.004
18	44301319	C	A	18	46721356	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.79361714119416E-4	0.016
18	44301319	C	G	18	46721356	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.53717286515496E-4	0.022
18	44301319	C	T	18	46721356	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.79361714119416E-4	0.016
18	44301320	T	A	18	46721357	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.6128894829304E-5	0.002
18	44301320	T	C	18	46721357	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.6128894829304E-5	0.002
18	44301320	T	G	18	46721357	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.6128894829304E-5	0.002
18	44301321	G	A	18	46721358	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00187719426371002	0.032
18	44301321	G	C	18	46721358	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00101265899176907	0.032
18	44301321	G	T	18	46721358	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00187719426371002	0.032
18	44301322	T	A	18	46721359	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00154592920084238	0.022
18	44301322	T	C	18	46721359	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00154592920084238	0.022
18	44301322	T	G	18	46721359	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00154592920084238	0.022
18	44301323	A	C	18	46721360	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.239+2T>G)	.	.	0.00435466241603455	0.026
18	44301323	A	G	18	46721360	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.239+2T>C)	.	.	0.00435466241603455	0.024
18	44301323	A	T	18	46721360	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.239+2T>A)	.	.	0.00430955476585136	0.028
18	44301324	C	A	18	46721361	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.239+1G>T)	.	.	9.33783285796057E-5	0.054
18	44301324	C	G	18	46721361	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.239+1G>C)	.	.	7.28726976308729E-5	0.052
18	44301324	C	T	18	46721361	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.239+1G>A)	.	.	1.39036558682923E-4	0.05
18	44301325	C	A	18	46721362	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.G239T:p.R80M;	2.1164833339216E-4	0.044
18	44301325	C	G	18	46721362	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.G239C:p.R80T;	2.18779412112646E-4	0.056
18	44301325	C	T	18	46721362	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.G239A:p.R80K;	2.33982726698341E-4	0.046
18	44301326	T	A	18	46721363	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.A238T:p.R80W;	0.290455106379663	0.688
18	44301326	T	C	18	46721363	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.A238G:p.R80G;	0.00769455252541915	0.038
18	44301326	T	G	18	46721363	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.A238C:p.R80R;	0.00177780133235394	0.02
18	44301327	G	A	18	46721364	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.C237T:p.S79S;	9.00770613571912E-5	0.064
18	44301327	G	C	18	46721364	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.C237G:p.S79S;	9.00770613571912E-5	0.064
18	44301327	G	T	18	46721364	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.C237A:p.S79S;	9.00770613571912E-5	0.064
18	44301431	C	A	18	46721468	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.G133T:p.G45C;	0.440341893896049	0.53
18	44301431	C	G	18	46721468	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.G133C:p.G45R;	0.440341893896049	0.532
18	44301431	C	T	18	46721468	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.G133A:p.G45S;	0.918683079490228	0.738
18	44301432	T	A	18	46721469	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.A132T:p.R44S;	0.0726580410854743	0.444
18	44301432	T	C	18	46721469	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.A132G:p.R44R;	0.0457324461883005	0.486
18	44301432	T	G	18	46721469	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000538168:exon2:c.A132C:p.R44S;	0.0253180234683042	0.372
18	44301433	C	A	18	46721470	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.132-1G>T)	.	.	0.934479950710637	0.74
18	44301433	C	G	18	46721470	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.132-1G>C)	.	.	0.934479950710637	0.74
18	44301433	C	T	18	46721470	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.132-1G>A)	.	.	0.934479950710637	0.744
18	44301434	T	A	18	46721471	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.132-2A>T)	.	.	0.501333085843361	0.724
18	44301434	T	C	18	46721471	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.132-2A>G)	.	.	0.501333085843361	0.734
18	44301434	T	G	18	46721471	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000538168:exon3:c.132-2A>C)	.	.	0.501333085843361	0.734
18	44301435	G	A	18	46721472	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0195407991256297	0.032
18	44301435	G	C	18	46721472	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0162837928302	0.03
18	44301435	G	T	18	46721472	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0195407991256297	0.034
18	44301436	G	A	18	46721473	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.9096691494675E-4	0.002
18	44301436	G	C	18	46721473	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.9096691494675E-4	0.004
18	44301436	G	T	18	46721473	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.9096691494675E-4	0.068
18	44301437	C	A	18	46721474	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.65083225420418E-4	0.0
18	44301437	C	G	18	46721474	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.35616201597333E-4	0.0
18	44301437	C	T	18	46721474	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.49520886589696E-4	0.054
18	44301438	A	C	18	46721475	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.20467738660625E-4	0.0
18	44301438	A	G	18	46721475	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.20467738660625E-4	0.0
18	44301438	A	T	18	46721475	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.40583297660189E-4	0.002
18	44301439	A	C	18	46721476	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00123738203438252	0.014
18	44301439	A	G	18	46721476	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00123738203438252	0.014
18	44301439	A	T	18	46721476	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00123738203438252	0.014
18	44301440	G	A	18	46721477	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00133414964176908	0.008
18	44301440	G	C	18	46721477	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00147476233483463	0.008
18	44301440	G	T	18	46721477	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00133414964176908	0.008
18	44301441	A	C	18	46721478	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0251573007428338	0.352
18	44301441	A	G	18	46721478	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0251573007428338	0.348
18	44301441	A	T	18	46721478	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0651162484089203	0.392
18	44301442	A	C	18	46721479	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00104077386334882	0.008
18	44301442	A	G	18	46721479	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00104077386334882	0.008
18	44301442	A	T	18	46721479	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00170140721433	0.012
18	44301443	A	C	18	46721480	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0253180234683042	0.454
18	44301443	A	G	18	46721480	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0253180234683042	0.454
18	44301443	A	T	18	46721480	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0655151005894283	0.446
18	44301444	A	C	18	46721481	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0253180234683042	0.372
18	44301444	A	G	18	46721481	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0253180234683042	0.372
18	44301444	A	T	18	46721481	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0655151005894283	0.444
18	44310323	G	A	18	46730360	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.01559384236425E-5	0.002
18	44310323	G	C	18	46730360	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	9.41215694109E-6	0.0
18	44310323	G	T	18	46730360	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.01559384236425E-5	0.0
18	44310324	T	A	18	46730361	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	7.42544334184685E-5	0.01
18	44310324	T	C	18	46730361	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.71486889510802E-5	0.006
18	44310324	T	G	18	46730361	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.71486889510802E-5	0.006
18	44310325	C	A	18	46730362	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon4:c.270-1G>T)	.	.	1.01559384236425E-5	0.004
18	44310325	C	G	18	46730362	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon4:c.270-1G>C)	.	.	9.41215694109E-6	0.004
18	44310325	C	T	18	46730362	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon4:c.270-1G>A)	.	.	1.01559384236425E-5	0.006
18	44310326	T	A	18	46730363	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon4:c.270-2A>T)	.	.	2.95853904142978E-5	0.004
18	44310326	T	C	18	46730363	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon4:c.270-2A>G)	.	.	2.95853904142978E-5	0.016
18	44310326	T	G	18	46730363	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon4:c.270-2A>C)	.	.	2.95853904142978E-5	0.014
18	44310327	A	C	18	46730364	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.54291542054858E-4	0.008
18	44310327	A	G	18	46730364	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.54291542054858E-4	0.008
18	44310327	A	T	18	46730364	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.54291542054858E-4	0.006
18	44310328	C	A	18	46730365	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.31929338280547E-5	0.002
18	44310328	C	G	18	46730365	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.07620641825897E-5	0.002
18	44310328	C	T	18	46730365	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.31929338280547E-5	0.006
18	44310329	A	C	18	46730366	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.54291542054858E-4	0.006
18	44310329	A	G	18	46730366	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.54291542054858E-4	0.006
18	44310329	A	T	18	46730366	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.004
18	44310330	A	C	18	46730367	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.004
18	44310330	A	G	18	46730367	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.54291542054858E-4	0.004
18	44310330	A	T	18	46730367	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.004
18	44310331	A	C	18	46730368	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.004
18	44310331	A	G	18	46730368	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.004
18	44310331	A	T	18	46730368	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.006
18	44310332	A	C	18	46730369	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.004
18	44310332	A	G	18	46730369	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.004
18	44310332	A	T	18	46730369	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.67864951622834E-4	0.004
18	44310333	G	A	18	46730370	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.82827935381688E-5	0.012
18	44310333	G	C	18	46730370	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.78205327723092E-5	0.004
18	44310333	G	T	18	46730370	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.78205327723092E-5	0.006
18	44310334	C	A	18	46730371	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.21833502150991E-5	0.0
18	44310334	C	G	18	46730371	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.21833502150991E-5	0.008
18	44310334	C	T	18	46730371	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.21833502150991E-5	0.0
18	44310335	A	C	18	46730372	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.24824353344448E-5	0.004
18	44310335	A	G	18	46730372	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.24824353344448E-5	0.004
18	44310335	A	T	18	46730372	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.76020749564062E-5	0.004
18	44310336	G	A	18	46730373	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.41036740142694E-4	0.002
18	44310336	G	C	18	46730373	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.41036740142694E-4	0.002
18	44310336	G	T	18	46730373	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.41036740142694E-4	0.002
18	44311636	G	A	18	46731673	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.13324429737708E-4	0.012
18	44311636	G	C	18	46731673	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.32903210917175E-4	0.024
18	44311636	G	T	18	46731673	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.13324429737708E-4	0.006
18	44311637	C	A	18	46731674	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.46892315219213E-4	0.008
18	44311637	C	G	18	46731674	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.46892315219213E-4	0.01
18	44311637	C	T	18	46731674	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.46892315219213E-4	0.04
18	44311638	C	A	18	46731675	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.63626172479922E-4	0.004
18	44311638	C	G	18	46731675	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.39252134329056E-4	0.004
18	44311638	C	T	18	46731675	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.63626172479922E-4	0.002
18	44311639	C	A	18	46731676	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.58255349957421E-5	0.002
18	44311639	C	G	18	46731676	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.58255349957421E-5	0.002
18	44311639	C	T	18	46731676	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.02355896872142E-5	0.002
18	44311640	T	A	18	46731677	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00127265193793032	0.006
18	44311640	T	C	18	46731677	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00127265193793032	0.002
18	44311640	T	G	18	46731677	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00127265193793032	0.002
18	44311641	T	A	18	46731678	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.97169784553757E-4	0.0
18	44311641	T	C	18	46731678	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.62586297388546E-4	0.004
18	44311641	T	G	18	46731678	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.62586297388546E-4	0.012
18	44311642	A	C	18	46731679	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.269+2T>G)	.	.	4.35480018914068E-5	0.0
18	44311642	A	G	18	46731679	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.269+2T>C)	.	.	4.35480018914068E-5	0.0
18	44311642	A	T	18	46731679	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.269+2T>A)	.	.	4.35480018914068E-5	0.002
18	44311643	C	A	18	46731680	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.269+1G>T)	.	.	7.75002676380762E-5	0.002
18	44311643	C	G	18	46731680	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.269+1G>C)	.	.	1.13324429737708E-4	0.064
18	44311643	C	T	18	46731680	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.269+1G>A)	.	.	7.75002676380762E-5	0.012
18	44311644	C	A	18	46731681	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.30819145506541E-4	0.012
18	44311644	C	G	18	46731681	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.30819145506541E-4	0.002
18	44311644	C	T	18	46731681	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.19087666414529E-4	0.0
18	44311645	T	A	18	46731682	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.27668735052053E-4	0.0
18	44311645	T	C	18	46731682	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.86678723866873E-4	0.012
18	44311645	T	G	18	46731682	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	1.86678723866873E-4	0.012
18	44311646	T	A	18	46731683	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	4.35480018914068E-5	0.0
18	44311646	T	C	18	46731683	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	6.19053194304606E-5	0.002
18	44311646	T	G	18	46731683	n	y	intronic	ST8SIA5	.	.	UTR3	ENSG00000101638	.	.	6.19053194304606E-5	0.006
18	44311805	C	A	18	46731842	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000590488:exon2:c.G108T:p.G36G;	9.72760553213487E-5	0.002
18	44311805	C	G	18	46731842	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000590488:exon2:c.G108C:p.G36G;	9.72760553213487E-5	0.0
18	44311805	C	T	18	46731842	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000590488:exon2:c.G108A:p.G36G;	9.72760553213487E-5	0.022
18	44311806	C	A	18	46731843	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon2:c.G107T:p.G36V;	3.15729005645545E-5	0.006
18	44311806	C	G	18	46731843	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon2:c.G107C:p.G36A;	3.15729005645545E-5	0.006
18	44311806	C	T	18	46731843	n	y	intronic	ST8SIA5	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon2:c.G107A:p.G36E;	3.15729005645545E-5	0.008
18	44311807	C	A	18	46731844	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.107-1G>T)	.	.	4.7749166663215E-5	0.002
18	44311807	C	G	18	46731844	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.107-1G>C)	.	.	2.01163773767764E-5	0.0
18	44311807	C	T	18	46731844	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.107-1G>A)	.	.	4.7749166663215E-5	0.0
18	44311808	T	A	18	46731845	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.107-2A>T)	.	.	3.31929338280547E-5	0.004
18	44311808	T	C	18	46731845	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.107-2A>G)	.	.	3.07620641825897E-5	0.0
18	44311808	T	G	18	46731845	n	y	intronic	ST8SIA5	.	.	splicing	ENSG00000101638(ENST00000590488:exon3:c.107-2A>C)	.	.	3.07620641825897E-5	0.0
18	44311809	G	A	18	46731846	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.97714972400462E-4	0.118
18	44311809	G	C	18	46731846	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.97714972400462E-4	0.118
18	44311809	G	T	18	46731846	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.97714972400462E-4	0.116
18	44311810	G	A	18	46731847	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.37155996493671E-5	0.01
18	44311810	G	C	18	46731847	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.37155996493671E-5	0.008
18	44311810	G	T	18	46731847	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	8.37155996493671E-5	0.008
18	44311811	G	A	18	46731848	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.07620641825897E-5	0.0
18	44311811	G	C	18	46731848	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.07620641825897E-5	0.0
18	44311811	G	T	18	46731848	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	3.07620641825897E-5	0.0
18	44311812	T	A	18	46731849	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.91991176785681E-5	0.0
18	44311812	T	C	18	46731849	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.91991176785681E-5	0.0
18	44311812	T	G	18	46731849	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.91991176785681E-5	0.0
18	44311813	A	C	18	46731850	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.89925739660516E-5	0.004
18	44311813	A	G	18	46731850	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.89925739660516E-5	0.004
18	44311813	A	T	18	46731850	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.89925739660516E-5	0.006
18	44311814	A	C	18	46731851	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.89925739660516E-5	0.006
18	44311814	A	G	18	46731851	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.89925739660516E-5	0.006
18	44311814	A	T	18	46731851	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	6.89925739660516E-5	0.008
18	44311815	A	C	18	46731852	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.08291490468438E-5	0.006
18	44311815	A	G	18	46731852	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.08291490468438E-5	0.006
18	44311815	A	T	18	46731852	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.08291490468438E-5	0.008
18	44311816	A	C	18	46731853	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.57442485097444E-4	0.002
18	44311816	A	G	18	46731853	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	9.57442485097444E-4	0.002
18	44311816	A	T	18	46731853	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	5.45045942448987E-4	0.002
18	44311817	C	A	18	46731854	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.19067828697559E-5	0.002
18	44311817	C	G	18	46731854	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	2.01163773767764E-5	0.0
18	44311817	C	T	18	46731854	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	4.7749166663215E-5	0.0
18	44311818	A	C	18	46731855	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.91991176785681E-5	0.0
18	44311818	A	G	18	46731855	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.91991176785681E-5	0.0
18	44311818	A	T	18	46731855	n	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	1.91991176785681E-5	0.0
18	44336333	T	A	18	46756370	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0020914385030983	0.084
18	44336333	T	C	18	46756370	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00136135879527833	0.014
18	44336333	T	G	18	46756370	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00151096643630795	0.02
18	44336334	T	A	18	46756371	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00153349340069764	0.06
18	44336334	T	C	18	46756371	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00153349340069764	0.018
18	44336334	T	G	18	46756371	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.00221504812094249	0.022
18	44336335	T	A	18	46756372	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0306529483557481	0.204
18	44336335	T	C	18	46756372	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0155206538359445	0.292
18	44336335	T	G	18	46756372	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0142665036956892	0.402
18	44336336	C	A	18	46756373	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.997472716690261	0.722
18	44336336	C	G	18	46756373	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.997996749815617	0.84
18	44336336	C	T	18	46756373	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.997773394917543	0.814
18	44336337	T	A	18	46756374	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.991383433458087	0.842
18	44336337	T	C	18	46756374	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.999022411739781	0.84
18	44336337	T	G	18	46756374	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.990974310487102	0.834
18	44336338	T	A	18	46756375	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.993140000744042	0.75
18	44336338	T	C	18	46756375	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.0101039605467867	0.208
18	44336338	T	G	18	46756375	y	y	intronic	ST8SIA5	.	.	intronic	ENSG00000101638	.	.	0.933923844773231	0.664
18	44336339	A	C	18	46756376	y	y	splicing	ST8SIA5(NM_013305:exon2:c.131+2T>G)	.	.	splicing	ENSG00000101638(ENST00000315087:exon2:c.131+2T>G;ENST00000538168:exon2:c.131+2T>G;ENST00000536490:exon2:c.131+2T>G)	.	.	0.999993672935256	0.93
18	44336339	A	G	18	46756376	y	y	splicing	ST8SIA5(NM_013305:exon2:c.131+2T>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon2:c.131+2T>C;ENST00000538168:exon2:c.131+2T>C;ENST00000536490:exon2:c.131+2T>C)	.	.	0.989732985218383	0.616
18	44336339	A	T	18	46756376	y	y	splicing	ST8SIA5(NM_013305:exon2:c.131+2T>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon2:c.131+2T>A;ENST00000538168:exon2:c.131+2T>A;ENST00000536490:exon2:c.131+2T>A)	.	.	0.999993672935256	0.93
18	44336340	C	A	18	46756377	y	y	splicing	ST8SIA5(NM_013305:exon2:c.131+1G>T)	.	.	splicing	ENSG00000101638(ENST00000315087:exon2:c.131+1G>T;ENST00000538168:exon2:c.131+1G>T;ENST00000536490:exon2:c.131+1G>T)	.	.	0.999988247793601	0.93
18	44336340	C	G	18	46756377	y	y	splicing	ST8SIA5(NM_013305:exon2:c.131+1G>C)	.	.	splicing	ENSG00000101638(ENST00000315087:exon2:c.131+1G>C;ENST00000538168:exon2:c.131+1G>C;ENST00000536490:exon2:c.131+1G>C)	.	.	0.999988247793601	0.93
18	44336340	C	T	18	46756377	y	y	splicing	ST8SIA5(NM_013305:exon2:c.131+1G>A)	.	.	splicing	ENSG00000101638(ENST00000315087:exon2:c.131+1G>A;ENST00000538168:exon2:c.131+1G>A;ENST00000536490:exon2:c.131+1G>A)	.	.	0.999988247793601	0.93
18	44336341	C	A	18	46756378	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon1:c.G131T:p.R44M;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon1:c.G131T:p.R44M;ENSG00000101638:ENST00000538168:exon1:c.G131T:p.R44I;ENSG00000101638:ENST00000536490:exon1:c.G131T:p.R44M;	0.999803203251671	0.944
18	44336341	C	G	18	46756378	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon1:c.G131C:p.R44T;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon1:c.G131C:p.R44T;ENSG00000101638:ENST00000538168:exon1:c.G131C:p.R44T;ENSG00000101638:ENST00000536490:exon1:c.G131C:p.R44T;	0.999507861258021	0.858
18	44336341	C	T	18	46756378	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon1:c.G131A:p.R44K;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon1:c.G131A:p.R44K;ENSG00000101638:ENST00000538168:exon1:c.G131A:p.R44K;ENSG00000101638:ENST00000536490:exon1:c.G131A:p.R44K;	0.999491718530512	0.92
18	44336342	T	A	18	46756379	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon1:c.A130T:p.R44W;	exonic	ENSG00000101638	stopgain SNV	ENSG00000101638:ENST00000538168:exon1:c.A130T:p.R44X;	0.857789030429629	0.634
18	44336342	T	C	18	46756379	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon1:c.A130G:p.R44G;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon1:c.A130G:p.R44G;ENSG00000101638:ENST00000538168:exon1:c.A130G:p.R44G;ENSG00000101638:ENST00000536490:exon1:c.A130G:p.R44G;	0.932412256012559	0.624
18	44336342	T	G	18	46756379	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon1:c.A130C:p.R44R;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon1:c.A130C:p.R44R;ENSG00000101638:ENST00000538168:exon1:c.A130C:p.R44R;ENSG00000101638:ENST00000536490:exon1:c.A130C:p.R44R;	0.836105158896737	0.636
18	44336343	C	A	18	46756380	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon1:c.G129T:p.K43N;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon1:c.G129T:p.K43N;ENSG00000101638:ENST00000538168:exon1:c.G129T:p.K43N;ENSG00000101638:ENST00000536490:exon1:c.G129T:p.K43N;	0.033071668455434	0.114
18	44336343	C	G	18	46756380	y	y	exonic	ST8SIA5	nonsynonymous SNV	ST8SIA5:NM_013305:exon1:c.G129C:p.K43N;	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000315087:exon1:c.G129C:p.K43N;ENSG00000101638:ENST00000538168:exon1:c.G129C:p.K43N;ENSG00000101638:ENST00000536490:exon1:c.G129C:p.K43N;	0.00704160542956215	0.112
18	44336343	C	T	18	46756380	y	y	exonic	ST8SIA5	synonymous SNV	ST8SIA5:NM_013305:exon1:c.G129A:p.K43K;	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000315087:exon1:c.G129A:p.K43K;ENSG00000101638:ENST00000538168:exon1:c.G129A:p.K43K;ENSG00000101638:ENST00000536490:exon1:c.G129A:p.K43K;	0.00121550308921291	0.08
18	44338950	T	A	18	46758987	n	y	intergenic	ST8SIA5(dist=1911);PIAS2(dist=51073)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.82827935381688E-5	0.002
18	44338950	T	C	18	46758987	n	y	intergenic	ST8SIA5(dist=1911);PIAS2(dist=51073)	.	.	ncRNA_intronic	ENSG00000270112	.	.	3.78205327723092E-5	0.06
18	44338950	T	G	18	46758987	n	y	intergenic	ST8SIA5(dist=1911);PIAS2(dist=51073)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.82827935381688E-5	0.014
18	44338951	A	C	18	46758988	n	y	intergenic	ST8SIA5(dist=1912);PIAS2(dist=51072)	.	.	ncRNA_intronic	ENSG00000270112	.	.	8.24824353344448E-5	0.0
18	44338951	A	G	18	46758988	n	y	intergenic	ST8SIA5(dist=1912);PIAS2(dist=51072)	.	.	ncRNA_intronic	ENSG00000270112	.	.	8.24824353344448E-5	0.0
18	44338951	A	T	18	46758988	n	y	intergenic	ST8SIA5(dist=1912);PIAS2(dist=51072)	.	.	ncRNA_intronic	ENSG00000270112	.	.	8.24824353344448E-5	0.0
18	44338952	A	C	18	46758989	n	y	intergenic	ST8SIA5(dist=1913);PIAS2(dist=51071)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.11203329754734E-5	0.002
18	44338952	A	G	18	46758989	n	y	intergenic	ST8SIA5(dist=1913);PIAS2(dist=51071)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.11203329754734E-5	0.0
18	44338952	A	T	18	46758989	n	y	intergenic	ST8SIA5(dist=1913);PIAS2(dist=51071)	.	.	ncRNA_intronic	ENSG00000270112	.	.	9.14505838604605E-5	0.006
18	44338953	C	A	18	46758990	n	y	intergenic	ST8SIA5(dist=1914);PIAS2(dist=51070)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.41475658311232E-5	0.004
18	44338953	C	G	18	46758990	n	y	intergenic	ST8SIA5(dist=1914);PIAS2(dist=51070)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.41475658311232E-5	0.004
18	44338953	C	T	18	46758990	n	y	intergenic	ST8SIA5(dist=1914);PIAS2(dist=51070)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.41475658311232E-5	0.004
18	44338954	T	A	18	46758991	n	y	intergenic	ST8SIA5(dist=1915);PIAS2(dist=51069)	.	.	ncRNA_intronic	ENSG00000270112	.	.	0.00154592920084238	0.01
18	44338954	T	C	18	46758991	n	y	intergenic	ST8SIA5(dist=1915);PIAS2(dist=51069)	.	.	ncRNA_intronic	ENSG00000270112	.	.	0.00154592920084238	0.01
18	44338954	T	G	18	46758991	n	y	intergenic	ST8SIA5(dist=1915);PIAS2(dist=51069)	.	.	ncRNA_intronic	ENSG00000270112	.	.	0.00154592920084238	0.01
18	44338955	C	A	18	46758992	n	y	intergenic	ST8SIA5(dist=1916);PIAS2(dist=51068)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.79361714119416E-4	0.004
18	44338955	C	G	18	46758992	n	y	intergenic	ST8SIA5(dist=1916);PIAS2(dist=51068)	.	.	ncRNA_intronic	ENSG00000270112	.	.	1.53717286515496E-4	0.01
18	44338955	C	T	18	46758992	n	y	intergenic	ST8SIA5(dist=1916);PIAS2(dist=51068)	.	.	ncRNA_intronic	ENSG00000270112	.	.	2.79361714119416E-4	0.004
18	44338956	A	C	18	46758993	n	y	intergenic	ST8SIA5(dist=1917);PIAS2(dist=51067)	.	.	splicing	ENSG00000101638(ENST00000591375:exon2:c.106+2T>G;ENST00000590488:exon2:c.106+2T>G)	.	.	3.29276528558917E-5	0.004
18	44338956	A	G	18	46758993	n	y	intergenic	ST8SIA5(dist=1917);PIAS2(dist=51067)	.	.	splicing	ENSG00000101638(ENST00000591375:exon2:c.106+2T>C;ENST00000590488:exon2:c.106+2T>C)	.	.	3.29276528558917E-5	0.004
18	44338956	A	T	18	46758993	n	y	intergenic	ST8SIA5(dist=1917);PIAS2(dist=51067)	.	.	splicing	ENSG00000101638(ENST00000591375:exon2:c.106+2T>A;ENST00000590488:exon2:c.106+2T>A)	.	.	3.29276528558917E-5	0.006
18	44338957	C	A	18	46758994	n	y	intergenic	ST8SIA5(dist=1918);PIAS2(dist=51066)	.	.	splicing	ENSG00000101638(ENST00000591375:exon2:c.106+1G>T;ENST00000590488:exon2:c.106+1G>T)	.	.	3.07620641825897E-5	0.0
18	44338957	C	G	18	46758994	n	y	intergenic	ST8SIA5(dist=1918);PIAS2(dist=51066)	.	.	splicing	ENSG00000101638(ENST00000591375:exon2:c.106+1G>C;ENST00000590488:exon2:c.106+1G>C)	.	.	3.07620641825897E-5	0.0
18	44338957	C	T	18	46758994	n	y	intergenic	ST8SIA5(dist=1918);PIAS2(dist=51066)	.	.	splicing	ENSG00000101638(ENST00000591375:exon2:c.106+1G>A;ENST00000590488:exon2:c.106+1G>A)	.	.	3.31929338280547E-5	0.0
18	44338958	C	A	18	46758995	n	y	intergenic	ST8SIA5(dist=1919);PIAS2(dist=51065)	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.G106T:p.G36W;ENSG00000101638:ENST00000591375:exon1:c.G106T:p.G36C;	5.85455578184536E-5	0.004
18	44338958	C	G	18	46758995	n	y	intergenic	ST8SIA5(dist=1919);PIAS2(dist=51065)	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.G106C:p.G36R;ENSG00000101638:ENST00000591375:exon1:c.G106C:p.G36R;	5.85455578184536E-5	0.004
18	44338958	C	T	18	46758995	n	y	intergenic	ST8SIA5(dist=1919);PIAS2(dist=51065)	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.G106A:p.G36R;ENSG00000101638:ENST00000591375:exon1:c.G106A:p.G36S;	5.85455578184536E-5	0.006
18	44338959	T	A	18	46758996	n	y	intergenic	ST8SIA5(dist=1920);PIAS2(dist=51064)	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.A105T:p.L35L;ENSG00000101638:ENST00000591375:exon1:c.A105T:p.L35L;	8.24824353344448E-5	0.0
18	44338959	T	C	18	46758996	n	y	intergenic	ST8SIA5(dist=1920);PIAS2(dist=51064)	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.A105G:p.L35L;ENSG00000101638:ENST00000591375:exon1:c.A105G:p.L35L;	8.24824353344448E-5	0.0
18	44338959	T	G	18	46758996	n	y	intergenic	ST8SIA5(dist=1920);PIAS2(dist=51064)	.	.	exonic	ENSG00000101638	synonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.A105C:p.L35L;ENSG00000101638:ENST00000591375:exon1:c.A105C:p.L35L;	8.24824353344448E-5	0.0
18	44338960	A	C	18	46758997	n	y	intergenic	ST8SIA5(dist=1921);PIAS2(dist=51063)	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.T104G:p.L35R;ENSG00000101638:ENST00000591375:exon1:c.T104G:p.L35R;	1.46004206284423E-5	0.0
18	44338960	A	G	18	46758997	n	y	intergenic	ST8SIA5(dist=1921);PIAS2(dist=51063)	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.T104C:p.L35P;ENSG00000101638:ENST00000591375:exon1:c.T104C:p.L35P;	1.46004206284423E-5	0.0
18	44338960	A	T	18	46758997	n	y	intergenic	ST8SIA5(dist=1921);PIAS2(dist=51063)	.	.	exonic	ENSG00000101638	nonsynonymous SNV	ENSG00000101638:ENST00000590488:exon1:c.T104A:p.L35Q;ENSG00000101638:ENST00000591375:exon1:c.T104A:p.L35Q;	2.25524929795369E-5	0.0
18	44392574	T	A	18	46812611	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon14:c.A1688T:p.Y563F;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon14:c.A1688T:p.Y563F;	0.86302969671967	.
18	44392574	T	C	18	46812611	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon14:c.A1688G:p.Y563C;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon14:c.A1688G:p.Y563C;	0.916291604499319	.
18	44392574	T	G	18	46812611	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon14:c.A1688C:p.Y563S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon14:c.A1688C:p.Y563S;	0.95289588151056	.
18	44392575	A	C	18	46812612	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon14:c.T1687G:p.Y563D;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon14:c.T1687G:p.Y563D;	0.816907124406164	.
18	44392575	A	G	18	46812612	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon14:c.T1687C:p.Y563H;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon14:c.T1687C:p.Y563H;	0.00112747049392008	.
18	44392575	A	T	18	46812612	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon14:c.T1687A:p.Y563N;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon14:c.T1687A:p.Y563N;	0.812324162758677	.
18	44392576	C	A	18	46812613	y	y	splicing	PIAS2(NM_004671:exon15:c.1687-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon15:c.1687-1G>T;ENST00000398654:exon14:c.1602-1G>T)	.	.	0.999939418356103	.
18	44392576	C	G	18	46812613	y	y	splicing	PIAS2(NM_004671:exon15:c.1687-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon15:c.1687-1G>C;ENST00000398654:exon14:c.1602-1G>C)	.	.	0.999939418356103	.
18	44392576	C	T	18	46812613	y	y	splicing	PIAS2(NM_004671:exon15:c.1687-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon15:c.1687-1G>A;ENST00000398654:exon14:c.1602-1G>A)	.	.	0.999939418356103	.
18	44392577	T	A	18	46812614	y	y	splicing	PIAS2(NM_004671:exon15:c.1687-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon15:c.1687-2A>T;ENST00000398654:exon14:c.1602-2A>T)	.	.	0.999865965285258	.
18	44392577	T	C	18	46812614	y	y	splicing	PIAS2(NM_004671:exon15:c.1687-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon15:c.1687-2A>G;ENST00000398654:exon14:c.1602-2A>G)	.	.	0.999888893054429	.
18	44392577	T	G	18	46812614	y	y	splicing	PIAS2(NM_004671:exon15:c.1687-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon15:c.1687-2A>C;ENST00000398654:exon14:c.1602-2A>C)	.	.	0.999888893054429	.
18	44392578	G	A	18	46812615	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.952605714501246	.
18	44392578	G	C	18	46812615	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999892113553607	.
18	44392578	G	T	18	46812615	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999884163570692	.
18	44392579	C	A	18	46812616	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0103273668743128	.
18	44392579	C	G	18	46812616	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.006633252533952	.
18	44392579	C	T	18	46812616	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0113428586526148	.
18	44392580	T	A	18	46812617	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00384388994362108	.
18	44392580	T	C	18	46812617	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.265773003757405	.
18	44392580	T	G	18	46812617	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00164614609314626	.
18	44392581	T	A	18	46812618	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00314237138550906	.
18	44392581	T	C	18	46812618	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0051043414743093	.
18	44392581	T	G	18	46812618	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00106170775172427	.
18	44392582	G	A	18	46812619	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0192989979381362	.
18	44392582	G	C	18	46812619	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.730432915719872	.
18	44392582	G	T	18	46812619	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.885979061159162	.
18	44392583	A	C	18	46812620	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.889528518817933	.
18	44392583	A	G	18	46812620	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00297015877724153	.
18	44392583	A	T	18	46812620	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.91864895007308	.
18	44392584	A	C	18	46812621	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997429804322617	.
18	44392584	A	G	18	46812621	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.180600734540505	.
18	44392584	A	T	18	46812621	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997782154352116	.
18	44392585	A	C	18	46812622	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996412775056981	.
18	44392585	A	G	18	46812622	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.358568346850531	.
18	44392585	A	T	18	46812622	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997325647698088	.
18	44392586	C	A	18	46812623	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.930243723460519	.
18	44392586	C	G	18	46812623	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.941388664858741	.
18	44392586	C	T	18	46812623	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.97987641334254	.
18	44392587	A	C	18	46812624	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996900997528941	.
18	44392587	A	G	18	46812624	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.257649738777287	.
18	44392587	A	T	18	46812624	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999664081691339	.
18	44395267	A	C	18	46815304	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00660477489296416	0.02
18	44395267	A	G	18	46815304	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00795550234021026	0.024
18	44395267	A	T	18	46815304	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0102093210624158	0.034
18	44395268	T	A	18	46815305	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0138481454023573	0.076
18	44395268	T	C	18	46815305	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0102093210624158	0.024
18	44395268	T	G	18	46815305	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0122880875428738	0.034
18	44395269	A	C	18	46815306	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.794008571602806	0.444
18	44395269	A	G	18	46815306	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.866375950663779	0.496
18	44395269	A	T	18	46815306	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.879274602204546	0.524
18	44395270	C	A	18	46815307	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.994144123490551	0.714
18	44395270	C	G	18	46815307	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.992062587002775	0.73
18	44395270	C	T	18	46815307	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996469308142419	0.588
18	44395271	A	C	18	46815308	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.024438871129618	0.21
18	44395271	A	G	18	46815308	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.101234385445501	0.428
18	44395271	A	T	18	46815308	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00568127173118281	0.158
18	44395272	T	A	18	46815309	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999036477170805	0.896
18	44395272	T	C	18	46815309	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.987623232480403	0.866
18	44395272	T	G	18	46815309	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998349111026188	0.87
18	44395273	A	C	18	46815310	y	y	splicing	PIAS2(NM_004671:exon14:c.1686+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1686+2T>G;ENST00000398654:exon13:c.1601+2T>G)	.	.	0.999988247793601	0.93
18	44395273	A	G	18	46815310	y	y	splicing	PIAS2(NM_004671:exon14:c.1686+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1686+2T>C;ENST00000398654:exon13:c.1601+2T>C)	.	.	0.992783534660112	0.682
18	44395273	A	T	18	46815310	y	y	splicing	PIAS2(NM_004671:exon14:c.1686+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1686+2T>A;ENST00000398654:exon13:c.1601+2T>A)	.	.	0.999988247793601	0.93
18	44395274	C	A	18	46815311	y	y	splicing	PIAS2(NM_004671:exon14:c.1686+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1686+1G>T;ENST00000398654:exon13:c.1601+1G>T)	.	.	0.999990361384395	0.938
18	44395274	C	G	18	46815311	y	y	splicing	PIAS2(NM_004671:exon14:c.1686+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1686+1G>C;ENST00000398654:exon13:c.1601+1G>C)	.	.	0.999990361384395	0.938
18	44395274	C	T	18	46815311	y	y	splicing	PIAS2(NM_004671:exon14:c.1686+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1686+1G>A;ENST00000398654:exon13:c.1601+1G>A)	.	.	0.999990361384395	0.938
18	44395275	C	A	18	46815312	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.G1686T:p.Q562H;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.G1686T:p.Q562H;	0.999672620218613	0.946
18	44395275	C	G	18	46815312	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.G1686C:p.Q562H;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.G1686C:p.Q562H;	0.999903548603862	0.952
18	44395275	C	T	18	46815312	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_004671:exon13:c.G1686A:p.Q562Q;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.G1686A:p.Q562Q;	0.991329730670095	0.814
18	44395276	T	A	18	46815313	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.A1685T:p.Q562L;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.A1685T:p.Q562L;	0.998889593042917	0.968
18	44395276	T	C	18	46815313	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.A1685G:p.Q562R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.A1685G:p.Q562R;	0.993993254359068	0.928
18	44395276	T	G	18	46815313	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.A1685C:p.Q562P;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.A1685C:p.Q562P;	0.995439833505953	0.944
18	44395277	G	A	18	46815314	y	y	exonic	PIAS2	stopgain SNV	PIAS2:NM_004671:exon13:c.C1684T:p.Q562X;	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000585916:exon13:c.C1684T:p.Q562X;	0.997045978082445	0.814
18	44395277	G	C	18	46815314	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.C1684G:p.Q562E;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.C1684G:p.Q562E;	0.82526636419563	0.628
18	44395277	G	T	18	46815314	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.C1684A:p.Q562K;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.C1684A:p.Q562K;	0.955651455464739	0.76
18	44395311	A	C	18	46815348	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_004671:exon13:c.T1650G:p.G550G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.T1650G:p.G550G;	0.00803255551315205	0.092
18	44395311	A	G	18	46815348	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_004671:exon13:c.T1650C:p.G550G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.T1650C:p.G550G;	0.0219310662219785	0.17
18	44395311	A	T	18	46815348	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_004671:exon13:c.T1650A:p.G550G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.T1650A:p.G550G;	0.00422342885101754	0.05
18	44395312	C	A	18	46815349	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.G1649T:p.G550V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.G1649T:p.G550V;	0.999907450896102	0.998
18	44395312	C	G	18	46815349	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.G1649C:p.G550A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.G1649C:p.G550A;	0.999843147155726	0.982
18	44395312	C	T	18	46815349	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_004671:exon13:c.G1649A:p.G550D;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000585916:exon13:c.G1649A:p.G550D;	0.999470409824442	0.888
18	44395313	C	A	18	46815350	y	y	splicing	PIAS2(NM_004671:exon14:c.1649-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1649-1G>T;ENST00000398654:exon13:c.1564-1G>T)	.	.	0.999990361384395	0.938
18	44395313	C	G	18	46815350	y	y	splicing	PIAS2(NM_004671:exon14:c.1649-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1649-1G>C;ENST00000398654:exon13:c.1564-1G>C)	.	.	0.999990361384395	0.938
18	44395313	C	T	18	46815350	y	y	splicing	PIAS2(NM_004671:exon14:c.1649-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1649-1G>A;ENST00000398654:exon13:c.1564-1G>A)	.	.	0.999990361384395	0.938
18	44395314	T	A	18	46815351	y	y	splicing	PIAS2(NM_004671:exon14:c.1649-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1649-2A>T;ENST00000398654:exon13:c.1564-2A>T)	.	.	0.999988247793601	0.932
18	44395314	T	C	18	46815351	y	y	splicing	PIAS2(NM_004671:exon14:c.1649-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1649-2A>G;ENST00000398654:exon13:c.1564-2A>G)	.	.	0.999988247793601	0.932
18	44395314	T	G	18	46815351	y	y	splicing	PIAS2(NM_004671:exon14:c.1649-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon14:c.1649-2A>C;ENST00000398654:exon13:c.1564-2A>C)	.	.	0.999988247793601	0.932
18	44395315	A	C	18	46815352	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999448297357372	0.842
18	44395315	A	G	18	46815352	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00100654006796769	0.026
18	44395315	A	T	18	46815352	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.93091193060764	0.524
18	44395316	A	C	18	46815353	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0334772075513819	0.122
18	44395316	A	G	18	46815353	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00819825374237801	0.064
18	44395316	A	T	18	46815353	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0359384948821078	0.16
18	44395317	A	C	18	46815354	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997646525171257	0.898
18	44395317	A	G	18	46815354	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.150936589532895	0.268
18	44395317	A	T	18	46815354	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998364529280983	0.908
18	44395318	A	C	18	46815355	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.985934026162816	0.876
18	44395318	A	G	18	46815355	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00923502147207911	0.232
18	44395318	A	T	18	46815355	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.972483311716898	0.826
18	44395319	C	A	18	46815356	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00307017386500737	0.038
18	44395319	C	G	18	46815356	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00720483075163089	0.044
18	44395319	C	T	18	46815356	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0133257945806518	0.16
18	44395320	A	C	18	46815357	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.349227678134117	0.434
18	44395320	A	G	18	46815357	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.28691505575941E-4	0.01
18	44395320	A	T	18	46815357	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999824519868838	0.966
18	44395321	A	C	18	46815358	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999657232434837	0.788
18	44395321	A	G	18	46815358	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.720101978479117	0.488
18	44395321	A	T	18	46815358	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999320717451152	0.828
18	44395322	A	C	18	46815359	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999310618799307	0.934
18	44395322	A	G	18	46815359	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.837480173686722	0.488
18	44395322	A	T	18	46815359	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999333062416654	0.912
18	44395323	A	C	18	46815360	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999323547532567	0.904
18	44395323	A	G	18	46815360	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.960940261714334	0.546
18	44395323	A	T	18	46815360	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999749973385498	0.944
18	44395324	A	C	18	46815361	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999972039334234	0.954
18	44395324	A	G	18	46815361	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.392995528930334	0.472
18	44395324	A	T	18	46815361	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999054020533388	0.87
18	44398409	T	A	18	46818446	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon13:c.A1650T:p.G550G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon13:c.A1650T:p.G550G;ENSG00000078043:ENST00000545673:exon12:c.A780T:p.G260G;	1.46892315219213E-4	0.004
18	44398409	T	C	18	46818446	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon13:c.A1650G:p.G550G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon13:c.A1650G:p.G550G;ENSG00000078043:ENST00000545673:exon12:c.A780G:p.G260G;	1.46892315219213E-4	0.004
18	44398409	T	G	18	46818446	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon13:c.A1650C:p.G550G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon13:c.A1650C:p.G550G;ENSG00000078043:ENST00000545673:exon12:c.A780C:p.G260G;	1.46892315219213E-4	0.006
18	44398410	C	A	18	46818447	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon13:c.G1649T:p.G550V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon13:c.G1649T:p.G550V;ENSG00000078043:ENST00000545673:exon12:c.G779T:p.G260V;	0.988015702533422	0.864
18	44398410	C	G	18	46818447	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon13:c.G1649C:p.G550A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon13:c.G1649C:p.G550A;ENSG00000078043:ENST00000545673:exon12:c.G779C:p.G260A;	0.988015702533422	0.852
18	44398410	C	T	18	46818447	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon13:c.G1649A:p.G550E;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon13:c.G1649A:p.G550E;ENSG00000078043:ENST00000545673:exon12:c.G779A:p.G260E;	0.987045631825906	0.852
18	44398411	C	A	18	46818448	y	y	splicing	PIAS2(NM_173206:exon14:c.1649-1G>T)	.	.	splicing	ENSG00000078043(ENST00000545673:exon13:c.779-1G>T;ENST00000324794:exon14:c.1649-1G>T)	.	.	0.984343014727787	0.85
18	44398411	C	G	18	46818448	y	y	splicing	PIAS2(NM_173206:exon14:c.1649-1G>C)	.	.	splicing	ENSG00000078043(ENST00000545673:exon13:c.779-1G>C;ENST00000324794:exon14:c.1649-1G>C)	.	.	0.970725516157012	0.856
18	44398411	C	T	18	46818448	y	y	splicing	PIAS2(NM_173206:exon14:c.1649-1G>A)	.	.	splicing	ENSG00000078043(ENST00000545673:exon13:c.779-1G>A;ENST00000324794:exon14:c.1649-1G>A)	.	.	0.985952990863178	0.86
18	44398412	T	A	18	46818449	y	y	splicing	PIAS2(NM_173206:exon14:c.1649-2A>T)	.	.	splicing	ENSG00000078043(ENST00000545673:exon13:c.779-2A>T;ENST00000324794:exon14:c.1649-2A>T)	.	.	0.803605016897643	0.744
18	44398412	T	C	18	46818449	y	y	splicing	PIAS2(NM_173206:exon14:c.1649-2A>G)	.	.	splicing	ENSG00000078043(ENST00000545673:exon13:c.779-2A>G;ENST00000324794:exon14:c.1649-2A>G)	.	.	0.803605016897643	0.752
18	44398412	T	G	18	46818449	y	y	splicing	PIAS2(NM_173206:exon14:c.1649-2A>C)	.	.	splicing	ENSG00000078043(ENST00000545673:exon13:c.779-2A>C;ENST00000324794:exon14:c.1649-2A>C)	.	.	0.803605016897643	0.752
18	44398413	G	A	18	46818450	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0114711912866896	0.066
18	44398413	G	C	18	46818450	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0114711912866896	0.058
18	44398413	G	T	18	46818450	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0114711912866896	0.062
18	44398414	C	A	18	46818451	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0013048471438668	0.108
18	44398414	C	G	18	46818451	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0013048471438668	0.102
18	44398414	C	T	18	46818451	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00129128994870809	0.102
18	44398415	A	C	18	46818452	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00464429886053217	0.042
18	44398415	A	G	18	46818452	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00464429886053217	0.038
18	44398415	A	T	18	46818452	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00689508868792027	0.024
18	44398416	G	A	18	46818453	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00573390516583697	0.058
18	44398416	G	C	18	46818453	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00573390516583697	0.028
18	44398416	G	T	18	46818453	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00573390516583697	0.028
18	44398417	A	C	18	46818454	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00371653993790341	0.02
18	44398417	A	G	18	46818454	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00371653993790341	0.02
18	44398417	A	T	18	46818454	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00378904365268926	0.022
18	44398418	T	A	18	46818455	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00676797796995896	0.024
18	44398418	T	C	18	46818455	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00649551328494723	0.026
18	44398418	T	G	18	46818455	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00649551328494723	0.026
18	44398419	T	A	18	46818456	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.803133416089577	0.748
18	44398419	T	C	18	46818456	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.803605016897643	0.744
18	44398419	T	G	18	46818456	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.803605016897643	0.746
18	44398420	C	A	18	46818457	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.430282665092031	0.57
18	44398420	C	G	18	46818457	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.430282665092031	0.56
18	44398420	C	T	18	46818457	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.430282665092031	0.542
18	44398421	A	C	18	46818458	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0396071572689364	0.19
18	44398421	A	G	18	46818458	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0396071572689364	0.19
18	44398421	A	T	18	46818458	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0396071572689364	0.19
18	44398422	G	A	18	46818459	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.206711987083808	0.522
18	44398422	G	C	18	46818459	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.206711987083808	0.466
18	44398422	G	T	18	46818459	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.206711987083808	0.512
18	44400888	C	A	18	46820925	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.35831543610088E-5	0.0
18	44400888	C	G	18	46820925	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.35831543610088E-5	0.004
18	44400888	C	T	18	46820925	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.3683796645191E-4	0.026
18	44400889	C	A	18	46820926	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.62772080280703E-4	0.004
18	44400889	C	G	18	46820926	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.7032040596347E-5	0.014
18	44400889	C	T	18	46820926	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.7032040596347E-5	0.014
18	44400890	A	C	18	46820927	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00612863312906339	0.228
18	44400890	A	G	18	46820927	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0960055854978066	0.326
18	44400890	A	T	18	46820927	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0250343658019363	0.312
18	44400891	C	A	18	46820928	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.959101088059665	0.726
18	44400891	C	G	18	46820928	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.972423509537336	0.696
18	44400891	C	T	18	46820928	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.975744494554174	0.688
18	44400892	A	C	18	46820929	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.86850320827559E-4	0.002
18	44400892	A	G	18	46820929	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00824713549854069	0.042
18	44400892	A	T	18	46820929	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.38614439420892E-4	0.05
18	44400893	T	A	18	46820930	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.987885331895561	0.734
18	44400893	T	C	18	46820930	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.959845830156943	0.792
18	44400893	T	G	18	46820930	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.994389733826471	0.77
18	44400894	A	C	18	46820931	y	y	splicing	PIAS2(NM_004671:exon13:c.1648+2T>G;NM_173206:exon13:c.1648+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1648+2T>G;ENST00000398654:exon12:c.1563+2T>G;ENST00000545673:exon12:c.778+2T>G;ENST00000324794:exon13:c.1648+2T>G)	.	.	0.999988247793601	0.928
18	44400894	A	G	18	46820931	y	y	splicing	PIAS2(NM_004671:exon13:c.1648+2T>C;NM_173206:exon13:c.1648+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1648+2T>C;ENST00000398654:exon12:c.1563+2T>C;ENST00000545673:exon12:c.778+2T>C;ENST00000324794:exon13:c.1648+2T>C)	.	.	0.992286765165952	0.636
18	44400894	A	T	18	46820931	y	y	splicing	PIAS2(NM_004671:exon13:c.1648+2T>A;NM_173206:exon13:c.1648+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1648+2T>A;ENST00000398654:exon12:c.1563+2T>A;ENST00000545673:exon12:c.778+2T>A;ENST00000324794:exon13:c.1648+2T>A)	.	.	0.999988247793601	0.928
18	44400895	C	A	18	46820932	y	y	splicing	PIAS2(NM_004671:exon13:c.1648+1G>T;NM_173206:exon13:c.1648+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1648+1G>T;ENST00000398654:exon12:c.1563+1G>T;ENST00000545673:exon12:c.778+1G>T;ENST00000324794:exon13:c.1648+1G>T)	.	.	0.999986675681007	0.926
18	44400895	C	G	18	46820932	y	y	splicing	PIAS2(NM_004671:exon13:c.1648+1G>C;NM_173206:exon13:c.1648+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1648+1G>C;ENST00000398654:exon12:c.1563+1G>C;ENST00000545673:exon12:c.778+1G>C;ENST00000324794:exon13:c.1648+1G>C)	.	.	0.999986675681007	0.926
18	44400895	C	T	18	46820932	y	y	splicing	PIAS2(NM_004671:exon13:c.1648+1G>A;NM_173206:exon13:c.1648+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1648+1G>A;ENST00000398654:exon12:c.1563+1G>A;ENST00000545673:exon12:c.778+1G>A;ENST00000324794:exon13:c.1648+1G>A)	.	.	0.999986675681007	0.926
18	44400896	C	A	18	46820933	y	y	exonic	PIAS2	stopgain SNV	PIAS2:NM_173206:exon12:c.G1648T:p.G550X;	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000324794:exon12:c.G1648T:p.G550X;ENSG00000078043:ENST00000545673:exon11:c.G778T:p.G260X;	0.999975268858396	0.972
18	44400896	C	G	18	46820933	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon12:c.G1648C:p.G550R;PIAS2:NM_004671:exon12:c.G1648C:p.G550R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.G1648C:p.G550R;ENSG00000078043:ENST00000545673:exon11:c.G778C:p.G260R;ENSG00000078043:ENST00000585916:exon12:c.G1648C:p.G550R;	0.999977515411438	0.988
18	44400896	C	T	18	46820933	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon12:c.G1648A:p.G550R;PIAS2:NM_004671:exon12:c.G1648A:p.G550S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.G1648A:p.G550R;ENSG00000078043:ENST00000545673:exon11:c.G778A:p.G260R;ENSG00000078043:ENST00000585916:exon12:c.G1648A:p.G550S;	0.99991076561841	0.988
18	44400897	T	A	18	46820934	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon12:c.A1647T:p.P549P;PIAS2:NM_004671:exon12:c.A1647T:p.P549P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.A1647T:p.P549P;ENSG00000078043:ENST00000545673:exon11:c.A777T:p.P259P;ENSG00000078043:ENST00000585916:exon12:c.A1647T:p.P549P;	0.982388628596695	0.942
18	44400897	T	C	18	46820934	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon12:c.A1647G:p.P549P;PIAS2:NM_004671:exon12:c.A1647G:p.P549P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.A1647G:p.P549P;ENSG00000078043:ENST00000545673:exon11:c.A777G:p.P259P;ENSG00000078043:ENST00000585916:exon12:c.A1647G:p.P549P;	0.982680145078104	0.858
18	44400897	T	G	18	46820934	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon12:c.A1647C:p.P549P;PIAS2:NM_004671:exon12:c.A1647C:p.P549P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.A1647C:p.P549P;ENSG00000078043:ENST00000545673:exon11:c.A777C:p.P259P;ENSG00000078043:ENST00000585916:exon12:c.A1647C:p.P549P;	0.923822170484842	0.902
18	44400898	G	A	18	46820935	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon12:c.C1646T:p.P549L;PIAS2:NM_004671:exon12:c.C1646T:p.P549L;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.C1646T:p.P549L;ENSG00000078043:ENST00000545673:exon11:c.C776T:p.P259L;ENSG00000078043:ENST00000585916:exon12:c.C1646T:p.P549L;	0.996066037052443	0.8
18	44400898	G	C	18	46820935	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon12:c.C1646G:p.P549R;PIAS2:NM_004671:exon12:c.C1646G:p.P549R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.C1646G:p.P549R;ENSG00000078043:ENST00000545673:exon11:c.C776G:p.P259R;ENSG00000078043:ENST00000585916:exon12:c.C1646G:p.P549R;	0.95835399819493	0.67
18	44400898	G	T	18	46820935	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon12:c.C1646A:p.P549Q;PIAS2:NM_004671:exon12:c.C1646A:p.P549Q;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.C1646A:p.P549Q;ENSG00000078043:ENST00000545673:exon11:c.C776A:p.P259Q;ENSG00000078043:ENST00000585916:exon12:c.C1646A:p.P549Q;	0.00584500365720966	0.12
18	44401034	C	A	18	46821071	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon12:c.G1510T:p.V504F;PIAS2:NM_004671:exon12:c.G1510T:p.V504F;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.G1510T:p.V504F;ENSG00000078043:ENST00000545673:exon11:c.G640T:p.V214F;ENSG00000078043:ENST00000585916:exon12:c.G1510T:p.V504F;	0.98725379252196	0.872
18	44401034	C	G	18	46821071	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon12:c.G1510C:p.V504L;PIAS2:NM_004671:exon12:c.G1510C:p.V504L;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.G1510C:p.V504L;ENSG00000078043:ENST00000545673:exon11:c.G640C:p.V214L;ENSG00000078043:ENST00000585916:exon12:c.G1510C:p.V504L;	0.981905924472233	0.662
18	44401034	C	T	18	46821071	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon12:c.G1510A:p.V504I;PIAS2:NM_004671:exon12:c.G1510A:p.V504I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.G1510A:p.V504I;ENSG00000078043:ENST00000545673:exon11:c.G640A:p.V214I;ENSG00000078043:ENST00000585916:exon12:c.G1510A:p.V504I;	0.979226551692887	0.744
18	44401035	C	A	18	46821072	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon12:c.G1509T:p.G503G;PIAS2:NM_004671:exon12:c.G1509T:p.G503G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.G1509T:p.G503G;ENSG00000078043:ENST00000545673:exon11:c.G639T:p.G213G;ENSG00000078043:ENST00000585916:exon12:c.G1509T:p.G503G;	0.8961281124201	0.718
18	44401035	C	G	18	46821072	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon12:c.G1509C:p.G503G;PIAS2:NM_004671:exon12:c.G1509C:p.G503G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.G1509C:p.G503G;ENSG00000078043:ENST00000545673:exon11:c.G639C:p.G213G;ENSG00000078043:ENST00000585916:exon12:c.G1509C:p.G503G;	0.568163632564862	0.636
18	44401035	C	T	18	46821072	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon12:c.G1509A:p.G503G;PIAS2:NM_004671:exon12:c.G1509A:p.G503G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon12:c.G1509A:p.G503G;ENSG00000078043:ENST00000545673:exon11:c.G639A:p.G213G;ENSG00000078043:ENST00000585916:exon12:c.G1509A:p.G503G;	0.7472329684739	0.546
18	44401036	C	A	18	46821073	y	y	splicing	PIAS2(NM_004671:exon13:c.1509-1G>T;NM_173206:exon13:c.1509-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1509-1G>T;ENST00000398654:exon12:c.1424-1G>T;ENST00000545673:exon12:c.639-1G>T;ENST00000324794:exon13:c.1509-1G>T)	.	.	0.999980697831002	0.882
18	44401036	C	G	18	46821073	y	y	splicing	PIAS2(NM_004671:exon13:c.1509-1G>C;NM_173206:exon13:c.1509-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1509-1G>C;ENST00000398654:exon12:c.1424-1G>C;ENST00000545673:exon12:c.639-1G>C;ENST00000324794:exon13:c.1509-1G>C)	.	.	0.999980697831002	0.882
18	44401036	C	T	18	46821073	y	y	splicing	PIAS2(NM_004671:exon13:c.1509-1G>A;NM_173206:exon13:c.1509-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1509-1G>A;ENST00000398654:exon12:c.1424-1G>A;ENST00000545673:exon12:c.639-1G>A;ENST00000324794:exon13:c.1509-1G>A)	.	.	0.999980697831002	0.882
18	44401037	T	A	18	46821074	y	y	splicing	PIAS2(NM_004671:exon13:c.1509-2A>T;NM_173206:exon13:c.1509-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1509-2A>T;ENST00000398654:exon12:c.1424-2A>T;ENST00000545673:exon12:c.639-2A>T;ENST00000324794:exon13:c.1509-2A>T)	.	.	0.999914511980801	0.888
18	44401037	T	C	18	46821074	y	y	splicing	PIAS2(NM_004671:exon13:c.1509-2A>G;NM_173206:exon13:c.1509-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1509-2A>G;ENST00000398654:exon12:c.1424-2A>G;ENST00000545673:exon12:c.639-2A>G;ENST00000324794:exon13:c.1509-2A>G)	.	.	0.999914511980801	0.888
18	44401037	T	G	18	46821074	y	y	splicing	PIAS2(NM_004671:exon13:c.1509-2A>C;NM_173206:exon13:c.1509-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon13:c.1509-2A>C;ENST00000398654:exon12:c.1424-2A>C;ENST00000545673:exon12:c.639-2A>C;ENST00000324794:exon13:c.1509-2A>C)	.	.	0.999914511980801	0.888
18	44401038	G	A	18	46821075	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.983270095466697	0.432
18	44401038	G	C	18	46821075	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999742397397945	0.926
18	44401038	G	T	18	46821075	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999290493590204	0.89
18	44401039	T	A	18	46821076	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.417737744318617	0.402
18	44401039	T	C	18	46821076	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998833336861801	0.864
18	44401039	T	G	18	46821076	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.183307526294554	0.36
18	44401040	T	A	18	46821077	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.236517731282152	0.358
18	44401040	T	C	18	46821077	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999597337223104	0.918
18	44401040	T	G	18	46821077	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.173994831958034	0.396
18	44401041	T	A	18	46821078	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.08541886700076E-5	0.016
18	44401041	T	C	18	46821078	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.984620935651105	0.92
18	44401041	T	G	18	46821078	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.08541886700076E-5	0.016
18	44401042	T	A	18	46821079	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.7510567039748E-5	0.006
18	44401042	T	C	18	46821079	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.16968887825308E-4	0.052
18	44401042	T	G	18	46821079	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.44272357573992E-5	0.006
18	44401043	A	C	18	46821080	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.783658911366032	0.704
18	44401043	A	G	18	46821080	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.51161017883343E-4	0.012
18	44401043	A	T	18	46821080	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.289021153799657	0.524
18	44401044	A	C	18	46821081	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997177145552156	0.852
18	44401044	A	G	18	46821081	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.486664850418476	0.456
18	44401044	A	T	18	46821081	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997170290148387	0.884
18	44401045	A	C	18	46821082	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999822780595736	0.934
18	44401045	A	G	18	46821082	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.393586807246184	0.504
18	44401045	A	T	18	46821082	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998780990138406	0.868
18	44401046	T	A	18	46821083	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.3601549878494E-6	0.114
18	44401046	T	C	18	46821083	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.46194377493812E-5	0.082
18	44401046	T	G	18	46821083	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.90790988957144E-5	0.112
18	44401047	A	C	18	46821084	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.65725105719976	0.616
18	44401047	A	G	18	46821084	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00489533858807855	0.112
18	44401047	A	T	18	46821084	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.873340132312786	0.64
18	44407914	T	A	18	46827951	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.05482893925789E-5	0.008
18	44407914	T	C	18	46827951	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.45871539860574E-5	0.002
18	44407914	T	G	18	46827951	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.57210129412726E-5	0.014
18	44407915	A	C	18	46827952	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.85921227265044E-4	0.04
18	44407915	A	G	18	46827952	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.84158566597091E-4	0.144
18	44407915	A	T	18	46827952	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.27731647623839E-4	0.042
18	44407916	A	C	18	46827953	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997208845873226	0.814
18	44407916	A	G	18	46827953	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998702636384523	0.89
18	44407916	A	T	18	46827953	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997030927522665	0.716
18	44407917	C	A	18	46827954	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999964654762805	0.938
18	44407917	C	G	18	46827954	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999964654762805	0.966
18	44407917	C	T	18	46827954	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999964710635788	0.95
18	44407918	A	C	18	46827955	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00222027389828705	0.024
18	44407918	A	G	18	46827955	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0253728077913607	0.234
18	44407918	A	T	18	46827955	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.78948654191288E-4	0.062
18	44407919	A	C	18	46827956	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00133139554033612	0.058
18	44407919	A	G	18	46827956	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0174501842409751	0.102
18	44407919	A	T	18	46827956	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00108239246896543	0.072
18	44407920	A	C	18	46827957	y	y	splicing	PIAS2(NM_004671:exon12:c.1508+2T>G;NM_173206:exon12:c.1508+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1508+2T>G;ENST00000398654:exon11:c.1423+2T>G;ENST00000545673:exon11:c.638+2T>G;ENST00000324794:exon12:c.1508+2T>G)	.	.	0.999979394981131	0.914
18	44407920	A	G	18	46827957	y	y	splicing	PIAS2(NM_004671:exon12:c.1508+2T>C;NM_173206:exon12:c.1508+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1508+2T>C;ENST00000398654:exon11:c.1423+2T>C;ENST00000545673:exon11:c.638+2T>C;ENST00000324794:exon12:c.1508+2T>C)	.	.	0.999645080197816	0.878
18	44407920	A	T	18	46827957	y	y	splicing	PIAS2(NM_004671:exon12:c.1508+2T>A;NM_173206:exon12:c.1508+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1508+2T>A;ENST00000398654:exon11:c.1423+2T>A;ENST00000545673:exon11:c.638+2T>A;ENST00000324794:exon12:c.1508+2T>A)	.	.	0.999979394981131	0.914
18	44407921	C	A	18	46827958	y	y	splicing	PIAS2(NM_004671:exon12:c.1508+1G>T;NM_173206:exon12:c.1508+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1508+1G>T;ENST00000398654:exon11:c.1423+1G>T;ENST00000545673:exon11:c.638+1G>T;ENST00000324794:exon12:c.1508+1G>T)	.	.	0.999982627682474	0.908
18	44407921	C	G	18	46827958	y	y	splicing	PIAS2(NM_004671:exon12:c.1508+1G>C;NM_173206:exon12:c.1508+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1508+1G>C;ENST00000398654:exon11:c.1423+1G>C;ENST00000545673:exon11:c.638+1G>C;ENST00000324794:exon12:c.1508+1G>C)	.	.	0.999982627682474	0.908
18	44407921	C	T	18	46827958	y	y	splicing	PIAS2(NM_004671:exon12:c.1508+1G>A;NM_173206:exon12:c.1508+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1508+1G>A;ENST00000398654:exon11:c.1423+1G>A;ENST00000545673:exon11:c.638+1G>A;ENST00000324794:exon12:c.1508+1G>A)	.	.	0.999982627682474	0.908
18	44407922	C	A	18	46827959	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1508T:p.G503V;PIAS2:NM_004671:exon11:c.G1508T:p.G503V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1508T:p.G503V;ENSG00000078043:ENST00000545673:exon10:c.G638T:p.G213V;ENSG00000078043:ENST00000585916:exon11:c.G1508T:p.G503V;	0.999975380154227	0.992
18	44407922	C	G	18	46827959	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1508C:p.G503A;PIAS2:NM_004671:exon11:c.G1508C:p.G503A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1508C:p.G503A;ENSG00000078043:ENST00000545673:exon10:c.G638C:p.G213A;ENSG00000078043:ENST00000585916:exon11:c.G1508C:p.G503A;	0.999987508629115	0.994
18	44407922	C	T	18	46827959	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1508A:p.G503E;PIAS2:NM_004671:exon11:c.G1508A:p.G503E;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1508A:p.G503E;ENSG00000078043:ENST00000545673:exon10:c.G638A:p.G213E;ENSG00000078043:ENST00000585916:exon11:c.G1508A:p.G503E;	0.999989852429664	0.998
18	44407923	C	A	18	46827960	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1507T:p.G503W;PIAS2:NM_004671:exon11:c.G1507T:p.G503W;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1507T:p.G503W;ENSG00000078043:ENST00000545673:exon10:c.G637T:p.G213W;ENSG00000078043:ENST00000585916:exon11:c.G1507T:p.G503W;	0.988225850731015	0.716
18	44407923	C	G	18	46827960	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1507C:p.G503R;PIAS2:NM_004671:exon11:c.G1507C:p.G503R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1507C:p.G503R;ENSG00000078043:ENST00000545673:exon10:c.G637C:p.G213R;ENSG00000078043:ENST00000585916:exon11:c.G1507C:p.G503R;	0.992197406267504	0.894
18	44407923	C	T	18	46827960	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1507A:p.G503R;PIAS2:NM_004671:exon11:c.G1507A:p.G503R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1507A:p.G503R;ENSG00000078043:ENST00000545673:exon10:c.G637A:p.G213R;ENSG00000078043:ENST00000585916:exon11:c.G1507A:p.G503R;	0.979057912346748	0.694
18	44407924	T	A	18	46827961	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.A1506T:p.K502N;PIAS2:NM_004671:exon11:c.A1506T:p.K502N;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.A1506T:p.K502N;ENSG00000078043:ENST00000545673:exon10:c.A636T:p.K212N;ENSG00000078043:ENST00000585916:exon11:c.A1506T:p.K502N;	0.99358572511777	0.76
18	44407924	T	C	18	46827961	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon11:c.A1506G:p.K502K;PIAS2:NM_004671:exon11:c.A1506G:p.K502K;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.A1506G:p.K502K;ENSG00000078043:ENST00000545673:exon10:c.A636G:p.K212K;ENSG00000078043:ENST00000585916:exon11:c.A1506G:p.K502K;	0.0639005517527207	0.146
18	44407924	T	G	18	46827961	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.A1506C:p.K502N;PIAS2:NM_004671:exon11:c.A1506C:p.K502N;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.A1506C:p.K502N;ENSG00000078043:ENST00000545673:exon10:c.A636C:p.K212N;ENSG00000078043:ENST00000585916:exon11:c.A1506C:p.K502N;	0.0404406480470246	0.274
18	44408092	A	C	18	46828129	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.T1338G:p.S446R;PIAS2:NM_004671:exon11:c.T1338G:p.S446R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.T1338G:p.S446R;ENSG00000078043:ENST00000545673:exon10:c.T468G:p.S156R;ENSG00000078043:ENST00000585916:exon11:c.T1338G:p.S446R;	0.00183860854507418	0.06
18	44408092	A	G	18	46828129	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon11:c.T1338C:p.S446S;PIAS2:NM_004671:exon11:c.T1338C:p.S446S;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.T1338C:p.S446S;ENSG00000078043:ENST00000545673:exon10:c.T468C:p.S156S;ENSG00000078043:ENST00000585916:exon11:c.T1338C:p.S446S;	0.00121795385462219	0.06
18	44408092	A	T	18	46828129	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.T1338A:p.S446R;PIAS2:NM_004671:exon11:c.T1338A:p.S446R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.T1338A:p.S446R;ENSG00000078043:ENST00000545673:exon10:c.T468A:p.S156R;ENSG00000078043:ENST00000585916:exon11:c.T1338A:p.S446R;	0.00246646634400908	0.024
18	44408093	C	A	18	46828130	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1337T:p.S446I;PIAS2:NM_004671:exon11:c.G1337T:p.S446I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1337T:p.S446I;ENSG00000078043:ENST00000545673:exon10:c.G467T:p.S156I;ENSG00000078043:ENST00000585916:exon11:c.G1337T:p.S446I;	0.378551620747264	0.418
18	44408093	C	G	18	46828130	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1337C:p.S446T;PIAS2:NM_004671:exon11:c.G1337C:p.S446T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1337C:p.S446T;ENSG00000078043:ENST00000545673:exon10:c.G467C:p.S156T;ENSG00000078043:ENST00000585916:exon11:c.G1337C:p.S446T;	0.0147836922534987	0.31
18	44408093	C	T	18	46828130	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon11:c.G1337A:p.S446N;PIAS2:NM_004671:exon11:c.G1337A:p.S446N;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon11:c.G1337A:p.S446N;ENSG00000078043:ENST00000545673:exon10:c.G467A:p.S156N;ENSG00000078043:ENST00000585916:exon11:c.G1337A:p.S446N;	0.0029464525900622	0.224
18	44408094	C	A	18	46828131	y	y	splicing	PIAS2(NM_004671:exon12:c.1337-1G>T;NM_173206:exon12:c.1337-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1337-1G>T;ENST00000398654:exon11:c.1252-1G>T;ENST00000545673:exon11:c.467-1G>T;ENST00000324794:exon12:c.1337-1G>T)	.	.	0.999985532734767	0.934
18	44408094	C	G	18	46828131	y	y	splicing	PIAS2(NM_004671:exon12:c.1337-1G>C;NM_173206:exon12:c.1337-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1337-1G>C;ENST00000398654:exon11:c.1252-1G>C;ENST00000545673:exon11:c.467-1G>C;ENST00000324794:exon12:c.1337-1G>C)	.	.	0.999985532734767	0.934
18	44408094	C	T	18	46828131	y	y	splicing	PIAS2(NM_004671:exon12:c.1337-1G>A;NM_173206:exon12:c.1337-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1337-1G>A;ENST00000398654:exon11:c.1252-1G>A;ENST00000545673:exon11:c.467-1G>A;ENST00000324794:exon12:c.1337-1G>A)	.	.	0.999985532734767	0.934
18	44408095	T	A	18	46828132	y	y	splicing	PIAS2(NM_004671:exon12:c.1337-2A>T;NM_173206:exon12:c.1337-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1337-2A>T;ENST00000398654:exon11:c.1252-2A>T;ENST00000545673:exon11:c.467-2A>T;ENST00000324794:exon12:c.1337-2A>T)	.	.	0.999988247793601	0.926
18	44408095	T	C	18	46828132	y	y	splicing	PIAS2(NM_004671:exon12:c.1337-2A>G;NM_173206:exon12:c.1337-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1337-2A>G;ENST00000398654:exon11:c.1252-2A>G;ENST00000545673:exon11:c.467-2A>G;ENST00000324794:exon12:c.1337-2A>G)	.	.	0.999988247793601	0.926
18	44408095	T	G	18	46828132	y	y	splicing	PIAS2(NM_004671:exon12:c.1337-2A>C;NM_173206:exon12:c.1337-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon12:c.1337-2A>C;ENST00000398654:exon11:c.1252-2A>C;ENST00000545673:exon11:c.467-2A>C;ENST00000324794:exon12:c.1337-2A>C)	.	.	0.999988247793601	0.926
18	44408096	G	A	18	46828133	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00136541092036948	0.034
18	44408096	G	C	18	46828133	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999214129568292	0.892
18	44408096	G	T	18	46828133	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.432428049702203	0.488
18	44408097	C	A	18	46828134	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.33433230357593E-4	0.004
18	44408097	C	G	18	46828134	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.08412370664426E-5	0.03
18	44408097	C	T	18	46828134	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.46143410287267E-4	0.016
18	44408098	A	C	18	46828135	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999639717783457	0.948
18	44408098	A	G	18	46828135	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0356477386389204	0.192
18	44408098	A	T	18	46828135	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999080544038802	0.868
18	44408099	T	A	18	46828136	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.7349621028214E-5	0.01
18	44408099	T	C	18	46828136	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.77449752546623E-4	0.02
18	44408099	T	G	18	46828136	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.70298502991353E-5	0.016
18	44408100	G	A	18	46828137	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.97870597798502E-4	0.02
18	44408100	G	C	18	46828137	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999933472449008	0.968
18	44408100	G	T	18	46828137	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00171161610837375	0.148
18	44408101	T	A	18	46828138	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.34790948912192E-5	0.002
18	44408101	T	C	18	46828138	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.74467673628925E-5	0.0
18	44408101	T	G	18	46828138	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.13137707054954E-5	0.006
18	44408102	A	C	18	46828139	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.959637219548179	0.816
18	44408102	A	G	18	46828139	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00159660771684084	0.052
18	44408102	A	T	18	46828139	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.891635535371015	0.654
18	44408103	A	C	18	46828140	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.15947514639053	0.288
18	44408103	A	G	18	46828140	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.05115890445834E-5	0.048
18	44408103	A	T	18	46828140	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.191532762110206	0.296
18	44408104	A	C	18	46828141	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.886251712956993	0.476
18	44408104	A	G	18	46828141	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.82846752423196E-4	0.05
18	44408104	A	T	18	46828141	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.927902671652568	0.53
18	44408105	G	A	18	46828142	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.78925787913949E-5	0.002
18	44408105	G	C	18	46828142	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.35908241891692E-4	0.042
18	44408105	G	T	18	46828142	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00118332644053807	0.064
18	44409689	A	C	18	46829726	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.3163165092865E-4	0.006
18	44409689	A	G	18	46829726	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.30675687931358E-5	0.002
18	44409689	A	T	18	46829726	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.26978375378608E-4	0.016
18	44409690	C	A	18	46829727	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.90721542491387E-4	0.03
18	44409690	C	G	18	46829727	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.83277102901073E-5	0.002
18	44409690	C	T	18	46829727	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.83277102901073E-5	0.002
18	44409691	A	C	18	46829728	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.923926022330953	0.72
18	44409691	A	G	18	46829728	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.718167190712758	0.578
18	44409691	A	T	18	46829728	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.893664651158396	0.64
18	44409692	C	A	18	46829729	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999962213013962	0.98
18	44409692	C	G	18	46829729	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999987405765473	0.992
18	44409692	C	T	18	46829729	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999960012106073	0.982
18	44409693	A	C	18	46829730	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.38322017547642E-4	0.038
18	44409693	A	G	18	46829730	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.89555772258017E-4	0.032
18	44409693	A	T	18	46829730	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.42078837208274E-4	0.114
18	44409694	T	A	18	46829731	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999470098160102	0.918
18	44409694	T	C	18	46829731	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.993954824858748	0.726
18	44409694	T	G	18	46829731	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999591994406131	0.93
18	44409695	A	C	18	46829732	y	y	splicing	PIAS2(NM_004671:exon11:c.1336+2T>G;NM_173206:exon11:c.1336+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1336+2T>G;ENST00000398654:exon10:c.1251+2T>G;ENST00000545673:exon10:c.466+2T>G;ENST00000324794:exon11:c.1336+2T>G)	.	.	0.999988247793601	0.936
18	44409695	A	G	18	46829732	y	y	splicing	PIAS2(NM_004671:exon11:c.1336+2T>C;NM_173206:exon11:c.1336+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1336+2T>C;ENST00000398654:exon10:c.1251+2T>C;ENST00000545673:exon10:c.466+2T>C;ENST00000324794:exon11:c.1336+2T>C)	.	.	0.986973409415639	0.612
18	44409695	A	T	18	46829732	y	y	splicing	PIAS2(NM_004671:exon11:c.1336+2T>A;NM_173206:exon11:c.1336+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1336+2T>A;ENST00000398654:exon10:c.1251+2T>A;ENST00000545673:exon10:c.466+2T>A;ENST00000324794:exon11:c.1336+2T>A)	.	.	0.999988247793601	0.936
18	44409696	C	A	18	46829733	y	y	splicing	PIAS2(NM_004671:exon11:c.1336+1G>T;NM_173206:exon11:c.1336+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1336+1G>T;ENST00000398654:exon10:c.1251+1G>T;ENST00000545673:exon10:c.466+1G>T;ENST00000324794:exon11:c.1336+1G>T)	.	.	0.999986675681007	0.9
18	44409696	C	G	18	46829733	y	y	splicing	PIAS2(NM_004671:exon11:c.1336+1G>C;NM_173206:exon11:c.1336+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1336+1G>C;ENST00000398654:exon10:c.1251+1G>C;ENST00000545673:exon10:c.466+1G>C;ENST00000324794:exon11:c.1336+1G>C)	.	.	0.999986675681007	0.944
18	44409696	C	T	18	46829733	y	y	splicing	PIAS2(NM_004671:exon11:c.1336+1G>A;NM_173206:exon11:c.1336+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1336+1G>A;ENST00000398654:exon10:c.1251+1G>A;ENST00000545673:exon10:c.466+1G>A;ENST00000324794:exon11:c.1336+1G>A)	.	.	0.999986675681007	0.944
18	44409697	T	A	18	46829734	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.A1336T:p.S446C;PIAS2:NM_004671:exon10:c.A1336T:p.S446C;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1336T:p.S446C;ENSG00000078043:ENST00000545673:exon9:c.A466T:p.S156C;ENSG00000078043:ENST00000585916:exon10:c.A1336T:p.S446C;	0.0648905308947307	0.208
18	44409697	T	C	18	46829734	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.A1336G:p.S446G;PIAS2:NM_004671:exon10:c.A1336G:p.S446G;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1336G:p.S446G;ENSG00000078043:ENST00000545673:exon9:c.A466G:p.S156G;ENSG00000078043:ENST00000585916:exon10:c.A1336G:p.S446G;	3.35566308208059E-4	0.142
18	44409697	T	G	18	46829734	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.A1336C:p.S446R;PIAS2:NM_004671:exon10:c.A1336C:p.S446R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1336C:p.S446R;ENSG00000078043:ENST00000545673:exon9:c.A466C:p.S156R;ENSG00000078043:ENST00000585916:exon10:c.A1336C:p.S446R;	0.00614624664407449	0.164
18	44409698	T	A	18	46829735	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.A1335T:p.E445D;PIAS2:NM_004671:exon10:c.A1335T:p.E445D;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1335T:p.E445D;ENSG00000078043:ENST00000545673:exon9:c.A465T:p.E155D;ENSG00000078043:ENST00000585916:exon10:c.A1335T:p.E445D;	0.842880822505962	0.614
18	44409698	T	C	18	46829735	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon10:c.A1335G:p.E445E;PIAS2:NM_004671:exon10:c.A1335G:p.E445E;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1335G:p.E445E;ENSG00000078043:ENST00000545673:exon9:c.A465G:p.E155E;ENSG00000078043:ENST00000585916:exon10:c.A1335G:p.E445E;	0.157836157644671	0.41
18	44409698	T	G	18	46829735	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.A1335C:p.E445D;PIAS2:NM_004671:exon10:c.A1335C:p.E445D;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1335C:p.E445D;ENSG00000078043:ENST00000545673:exon9:c.A465C:p.E155D;ENSG00000078043:ENST00000585916:exon10:c.A1335C:p.E445D;	0.147954999437017	0.456
18	44409699	T	A	18	46829736	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.A1334T:p.E445V;PIAS2:NM_004671:exon10:c.A1334T:p.E445V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1334T:p.E445V;ENSG00000078043:ENST00000545673:exon9:c.A464T:p.E155V;ENSG00000078043:ENST00000585916:exon10:c.A1334T:p.E445V;	0.969863669490892	0.756
18	44409699	T	C	18	46829736	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.A1334G:p.E445G;PIAS2:NM_004671:exon10:c.A1334G:p.E445G;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1334G:p.E445G;ENSG00000078043:ENST00000545673:exon9:c.A464G:p.E155G;ENSG00000078043:ENST00000585916:exon10:c.A1334G:p.E445G;	0.00465395285297546	0.134
18	44409699	T	G	18	46829736	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.A1334C:p.E445A;PIAS2:NM_004671:exon10:c.A1334C:p.E445A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.A1334C:p.E445A;ENSG00000078043:ENST00000545673:exon9:c.A464C:p.E155A;ENSG00000078043:ENST00000585916:exon10:c.A1334C:p.E445A;	0.00402383082531656	0.024
18	44409829	G	A	18	46829866	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.C1204T:p.L402F;PIAS2:NM_004671:exon10:c.C1204T:p.L402F;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.C1204T:p.L402F;ENSG00000078043:ENST00000545673:exon9:c.C334T:p.L112F;ENSG00000078043:ENST00000585916:exon10:c.C1204T:p.L402F;	0.663113520294539	0.552
18	44409829	G	C	18	46829866	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.C1204G:p.L402V;PIAS2:NM_004671:exon10:c.C1204G:p.L402V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.C1204G:p.L402V;ENSG00000078043:ENST00000545673:exon9:c.C334G:p.L112V;ENSG00000078043:ENST00000585916:exon10:c.C1204G:p.L402V;	0.177542280684098	0.236
18	44409829	G	T	18	46829866	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon10:c.C1204A:p.L402I;PIAS2:NM_004671:exon10:c.C1204A:p.L402I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.C1204A:p.L402I;ENSG00000078043:ENST00000545673:exon9:c.C334A:p.L112I;ENSG00000078043:ENST00000585916:exon10:c.C1204A:p.L402I;	0.929746068398503	0.61
18	44409830	C	A	18	46829867	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon10:c.G1203T:p.G401G;PIAS2:NM_004671:exon10:c.G1203T:p.G401G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.G1203T:p.G401G;ENSG00000078043:ENST00000545673:exon9:c.G333T:p.G111G;ENSG00000078043:ENST00000585916:exon10:c.G1203T:p.G401G;	0.561581818613643	0.57
18	44409830	C	G	18	46829867	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon10:c.G1203C:p.G401G;PIAS2:NM_004671:exon10:c.G1203C:p.G401G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.G1203C:p.G401G;ENSG00000078043:ENST00000545673:exon9:c.G333C:p.G111G;ENSG00000078043:ENST00000585916:exon10:c.G1203C:p.G401G;	0.26327141121538	0.442
18	44409830	C	T	18	46829867	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon10:c.G1203A:p.G401G;PIAS2:NM_004671:exon10:c.G1203A:p.G401G;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon10:c.G1203A:p.G401G;ENSG00000078043:ENST00000545673:exon9:c.G333A:p.G111G;ENSG00000078043:ENST00000585916:exon10:c.G1203A:p.G401G;	0.0105702882710347	0.21
18	44409831	C	A	18	46829868	y	y	splicing	PIAS2(NM_004671:exon11:c.1203-1G>T;NM_173206:exon11:c.1203-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1203-1G>T;ENST00000398654:exon10:c.1118-1G>T;ENST00000545673:exon10:c.333-1G>T;ENST00000324794:exon11:c.1203-1G>T)	.	.	0.999986675681007	0.934
18	44409831	C	G	18	46829868	y	y	splicing	PIAS2(NM_004671:exon11:c.1203-1G>C;NM_173206:exon11:c.1203-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1203-1G>C;ENST00000398654:exon10:c.1118-1G>C;ENST00000545673:exon10:c.333-1G>C;ENST00000324794:exon11:c.1203-1G>C)	.	.	0.999986675681007	0.934
18	44409831	C	T	18	46829868	y	y	splicing	PIAS2(NM_004671:exon11:c.1203-1G>A;NM_173206:exon11:c.1203-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1203-1G>A;ENST00000398654:exon10:c.1118-1G>A;ENST00000545673:exon10:c.333-1G>A;ENST00000324794:exon11:c.1203-1G>A)	.	.	0.999986675681007	0.934
18	44409832	T	A	18	46829869	y	y	splicing	PIAS2(NM_004671:exon11:c.1203-2A>T;NM_173206:exon11:c.1203-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1203-2A>T;ENST00000398654:exon10:c.1118-2A>T;ENST00000545673:exon10:c.333-2A>T;ENST00000324794:exon11:c.1203-2A>T)	.	.	0.999989917668626	0.928
18	44409832	T	C	18	46829869	y	y	splicing	PIAS2(NM_004671:exon11:c.1203-2A>G;NM_173206:exon11:c.1203-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1203-2A>G;ENST00000398654:exon10:c.1118-2A>G;ENST00000545673:exon10:c.333-2A>G;ENST00000324794:exon11:c.1203-2A>G)	.	.	0.999989917668626	0.926
18	44409832	T	G	18	46829869	y	y	splicing	PIAS2(NM_004671:exon11:c.1203-2A>C;NM_173206:exon11:c.1203-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon11:c.1203-2A>C;ENST00000398654:exon10:c.1118-2A>C;ENST00000545673:exon10:c.333-2A>C;ENST00000324794:exon11:c.1203-2A>C)	.	.	0.999989917668626	0.926
18	44409833	A	C	18	46829870	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.579559250605774	0.64
18	44409833	A	G	18	46829870	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.15265418620623E-4	0.0
18	44409833	A	T	18	46829870	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00172947460675724	0.132
18	44409834	A	C	18	46829871	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.89853226706902E-5	0.082
18	44409834	A	G	18	46829871	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.92536465856085E-5	0.076
18	44409834	A	T	18	46829871	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.88691547297011E-5	0.11
18	44409835	A	C	18	46829872	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.974722870247936	0.804
18	44409835	A	G	18	46829872	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00500181435607646	0.066
18	44409835	A	T	18	46829872	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.977290004183455	0.82
18	44409836	A	C	18	46829873	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.989053311047021	0.812
18	44409836	A	G	18	46829873	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0373428587850564	0.426
18	44409836	A	T	18	46829873	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996696385110842	0.83
18	44409837	A	C	18	46829874	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00101187080796776	0.142
18	44409837	A	G	18	46829874	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.88676253091879E-5	0.0
18	44409837	A	T	18	46829874	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0159801888070637	0.134
18	44409838	A	C	18	46829875	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.52239569004427E-4	0.058
18	44409838	A	G	18	46829875	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.93580502992148E-5	0.01
18	44409838	A	T	18	46829875	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00479803758699243	0.064
18	44409839	C	A	18	46829876	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0529060891679277	0.344
18	44409839	C	G	18	46829876	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0241303926051322	0.332
18	44409839	C	T	18	46829876	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.298753168841658	0.292
18	44409840	A	C	18	46829877	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996070670870624	0.864
18	44409840	A	G	18	46829877	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.127253616484569	0.446
18	44409840	A	T	18	46829877	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999980718222415	0.958
18	44409841	A	C	18	46829878	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999970078310557	0.95
18	44409841	A	G	18	46829878	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.885773636575991	0.544
18	44409841	A	T	18	46829878	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997648326631803	0.9
18	44409842	T	A	18	46829879	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.24097408921972E-4	0.28
18	44409842	T	C	18	46829879	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.993856221920649	0.848
18	44409842	T	G	18	46829879	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.24097408921972E-4	0.162
18	44416312	A	C	18	46836349	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.62347819774872E-5	0.004
18	44416312	A	G	18	46836349	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.62347819774872E-5	0.004
18	44416312	A	T	18	46836349	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.58282936985949E-5	0.004
18	44416313	T	A	18	46836350	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.972398950573E-5	0.0
18	44416313	T	C	18	46836350	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.18855065915869E-4	0.016
18	44416313	T	G	18	46836350	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.18855065915869E-4	0.014
18	44416314	A	C	18	46836351	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00750880853391836	0.16
18	44416314	A	G	18	46836351	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0601607047516106	0.266
18	44416314	A	T	18	46836351	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0319405436417197	0.202
18	44416315	C	A	18	46836352	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997885525178793	0.786
18	44416315	C	G	18	46836352	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999199752205909	0.83
18	44416315	C	T	18	46836352	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998276597203572	0.862
18	44416316	T	A	18	46836353	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.67013001953236	0.402
18	44416316	T	C	18	46836353	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.789995864295076	0.45
18	44416316	T	G	18	46836353	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.552491594175636	0.354
18	44416317	T	A	18	46836354	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.793475296284639	0.504
18	44416317	T	C	18	46836354	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.2879284443422E-4	0.014
18	44416317	T	G	18	46836354	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.707440171149935	0.482
18	44416318	A	C	18	46836355	y	y	splicing	PIAS2(NM_004671:exon10:c.1202+2T>G;NM_173206:exon10:c.1202+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1202+2T>G;ENST00000398654:exon9:c.1117+2T>G;ENST00000545673:exon9:c.332+2T>G;ENST00000324794:exon10:c.1202+2T>G)	.	.	0.999993519952936	0.93
18	44416318	A	G	18	46836355	y	y	splicing	PIAS2(NM_004671:exon10:c.1202+2T>C;NM_173206:exon10:c.1202+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1202+2T>C;ENST00000398654:exon9:c.1117+2T>C;ENST00000545673:exon9:c.332+2T>C;ENST00000324794:exon10:c.1202+2T>C)	.	.	0.993596150545159	0.604
18	44416318	A	T	18	46836355	y	y	splicing	PIAS2(NM_004671:exon10:c.1202+2T>A;NM_173206:exon10:c.1202+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1202+2T>A;ENST00000398654:exon9:c.1117+2T>A;ENST00000545673:exon9:c.332+2T>A;ENST00000324794:exon10:c.1202+2T>A)	.	.	0.999993519952936	0.93
18	44416319	C	A	18	46836356	y	y	splicing	PIAS2(NM_004671:exon10:c.1202+1G>T;NM_173206:exon10:c.1202+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1202+1G>T;ENST00000398654:exon9:c.1117+1G>T;ENST00000545673:exon9:c.332+1G>T;ENST00000324794:exon10:c.1202+1G>T)	.	.	0.999988247793601	0.924
18	44416319	C	G	18	46836356	y	y	splicing	PIAS2(NM_004671:exon10:c.1202+1G>C;NM_173206:exon10:c.1202+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1202+1G>C;ENST00000398654:exon9:c.1117+1G>C;ENST00000545673:exon9:c.332+1G>C;ENST00000324794:exon10:c.1202+1G>C)	.	.	0.999988247793601	0.924
18	44416319	C	T	18	46836356	y	y	splicing	PIAS2(NM_004671:exon10:c.1202+1G>A;NM_173206:exon10:c.1202+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1202+1G>A;ENST00000398654:exon9:c.1117+1G>A;ENST00000545673:exon9:c.332+1G>A;ENST00000324794:exon10:c.1202+1G>A)	.	.	0.999988247793601	0.924
18	44416320	C	A	18	46836357	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.G1202T:p.G401V;PIAS2:NM_004671:exon9:c.G1202T:p.G401V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.G1202T:p.G401V;ENSG00000078043:ENST00000545673:exon8:c.G332T:p.G111V;ENSG00000078043:ENST00000585916:exon9:c.G1202T:p.G401V;	0.999516086769504	0.924
18	44416320	C	G	18	46836357	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.G1202C:p.G401A;PIAS2:NM_004671:exon9:c.G1202C:p.G401A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.G1202C:p.G401A;ENSG00000078043:ENST00000545673:exon8:c.G332C:p.G111A;ENSG00000078043:ENST00000585916:exon9:c.G1202C:p.G401A;	0.999697390130277	0.878
18	44416320	C	T	18	46836357	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.G1202A:p.G401E;PIAS2:NM_004671:exon9:c.G1202A:p.G401E;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.G1202A:p.G401E;ENSG00000078043:ENST00000545673:exon8:c.G332A:p.G111E;ENSG00000078043:ENST00000585916:exon9:c.G1202A:p.G401E;	0.999447362145176	0.932
18	44416321	C	A	18	46836358	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.G1201T:p.G401W;PIAS2:NM_004671:exon9:c.G1201T:p.G401W;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.G1201T:p.G401W;ENSG00000078043:ENST00000545673:exon8:c.G331T:p.G111W;ENSG00000078043:ENST00000585916:exon9:c.G1201T:p.G401W;	0.983882435262469	0.77
18	44416321	C	G	18	46836358	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.G1201C:p.G401R;PIAS2:NM_004671:exon9:c.G1201C:p.G401R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.G1201C:p.G401R;ENSG00000078043:ENST00000545673:exon8:c.G331C:p.G111R;ENSG00000078043:ENST00000585916:exon9:c.G1201C:p.G401R;	0.973344922345202	0.752
18	44416321	C	T	18	46836358	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.G1201A:p.G401R;PIAS2:NM_004671:exon9:c.G1201A:p.G401R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.G1201A:p.G401R;ENSG00000078043:ENST00000545673:exon8:c.G331A:p.G111R;ENSG00000078043:ENST00000585916:exon9:c.G1201A:p.G401R;	0.926087823871513	0.544
18	44416322	A	C	18	46836359	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.T1200G:p.D400E;PIAS2:NM_004671:exon9:c.T1200G:p.D400E;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.T1200G:p.D400E;ENSG00000078043:ENST00000545673:exon8:c.T330G:p.D110E;ENSG00000078043:ENST00000585916:exon9:c.T1200G:p.D400E;	0.0994512774885471	0.246
18	44416322	A	G	18	46836359	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon9:c.T1200C:p.D400D;PIAS2:NM_004671:exon9:c.T1200C:p.D400D;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.T1200C:p.D400D;ENSG00000078043:ENST00000545673:exon8:c.T330C:p.D110D;ENSG00000078043:ENST00000585916:exon9:c.T1200C:p.D400D;	6.04026825214779E-4	0.006
18	44416322	A	T	18	46836359	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.T1200A:p.D400E;PIAS2:NM_004671:exon9:c.T1200A:p.D400E;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.T1200A:p.D400E;ENSG00000078043:ENST00000545673:exon8:c.T330A:p.D110E;ENSG00000078043:ENST00000585916:exon9:c.T1200A:p.D400E;	0.0202084733268271	0.29
18	44416479	A	C	18	46836516	y	y	exonic	PIAS2	stopgain SNV	PIAS2:NM_173206:exon9:c.T1043G:p.L348X;PIAS2:NM_004671:exon9:c.T1043G:p.L348X;	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000324794:exon9:c.T1043G:p.L348X;ENSG00000078043:ENST00000545673:exon8:c.T173G:p.L58X;ENSG00000078043:ENST00000585916:exon9:c.T1043G:p.L348X;	0.611982312564753	0.51
18	44416479	A	G	18	46836516	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.T1043C:p.L348S;PIAS2:NM_004671:exon9:c.T1043C:p.L348S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.T1043C:p.L348S;ENSG00000078043:ENST00000545673:exon8:c.T173C:p.L58S;ENSG00000078043:ENST00000585916:exon9:c.T1043C:p.L348S;	0.527599552968904	0.434
18	44416479	A	T	18	46836516	y	y	exonic	PIAS2	stopgain SNV	PIAS2:NM_173206:exon9:c.T1043A:p.L348X;PIAS2:NM_004671:exon9:c.T1043A:p.L348X;	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000324794:exon9:c.T1043A:p.L348X;ENSG00000078043:ENST00000545673:exon8:c.T173A:p.L58X;ENSG00000078043:ENST00000585916:exon9:c.T1043A:p.L348X;	0.621813287859909	0.512
18	44416480	A	C	18	46836517	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.T1042G:p.L348V;PIAS2:NM_004671:exon9:c.T1042G:p.L348V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.T1042G:p.L348V;ENSG00000078043:ENST00000545673:exon8:c.T172G:p.L58V;ENSG00000078043:ENST00000585916:exon9:c.T1042G:p.L348V;	0.225586512331093	0.408
18	44416480	A	G	18	46836517	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon9:c.T1042C:p.L348L;PIAS2:NM_004671:exon9:c.T1042C:p.L348L;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.T1042C:p.L348L;ENSG00000078043:ENST00000545673:exon8:c.T172C:p.L58L;ENSG00000078043:ENST00000585916:exon9:c.T1042C:p.L348L;	5.84181424684699E-4	0.006
18	44416480	A	T	18	46836517	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon9:c.T1042A:p.L348I;PIAS2:NM_004671:exon9:c.T1042A:p.L348I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon9:c.T1042A:p.L348I;ENSG00000078043:ENST00000545673:exon8:c.T172A:p.L58I;ENSG00000078043:ENST00000585916:exon9:c.T1042A:p.L348I;	0.0942156790216386	0.426
18	44416481	C	A	18	46836518	y	y	splicing	PIAS2(NM_004671:exon10:c.1042-1G>T;NM_173206:exon10:c.1042-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1042-1G>T;ENST00000398654:exon9:c.957-1G>T;ENST00000545673:exon9:c.172-1G>T;ENST00000324794:exon10:c.1042-1G>T)	.	.	0.999988247793601	0.922
18	44416481	C	G	18	46836518	y	y	splicing	PIAS2(NM_004671:exon10:c.1042-1G>C;NM_173206:exon10:c.1042-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1042-1G>C;ENST00000398654:exon9:c.957-1G>C;ENST00000545673:exon9:c.172-1G>C;ENST00000324794:exon10:c.1042-1G>C)	.	.	0.999988247793601	0.922
18	44416481	C	T	18	46836518	y	y	splicing	PIAS2(NM_004671:exon10:c.1042-1G>A;NM_173206:exon10:c.1042-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1042-1G>A;ENST00000398654:exon9:c.957-1G>A;ENST00000545673:exon9:c.172-1G>A;ENST00000324794:exon10:c.1042-1G>A)	.	.	0.999988247793601	0.922
18	44416482	T	A	18	46836519	y	y	splicing	PIAS2(NM_004671:exon10:c.1042-2A>T;NM_173206:exon10:c.1042-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1042-2A>T;ENST00000398654:exon9:c.957-2A>T;ENST00000545673:exon9:c.172-2A>T;ENST00000324794:exon10:c.1042-2A>T)	.	.	0.999988247793601	0.928
18	44416482	T	C	18	46836519	y	y	splicing	PIAS2(NM_004671:exon10:c.1042-2A>G;NM_173206:exon10:c.1042-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1042-2A>G;ENST00000398654:exon9:c.957-2A>G;ENST00000545673:exon9:c.172-2A>G;ENST00000324794:exon10:c.1042-2A>G)	.	.	0.999988247793601	0.928
18	44416482	T	G	18	46836519	y	y	splicing	PIAS2(NM_004671:exon10:c.1042-2A>C;NM_173206:exon10:c.1042-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon10:c.1042-2A>C;ENST00000398654:exon9:c.957-2A>C;ENST00000545673:exon9:c.172-2A>C;ENST00000324794:exon10:c.1042-2A>C)	.	.	0.999988247793601	0.928
18	44416483	A	C	18	46836520	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.938926400845468	0.734
18	44416483	A	G	18	46836520	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.73848748511625E-5	0.032
18	44416483	A	T	18	46836520	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0506810978510767	0.324
18	44416484	C	A	18	46836521	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.65928173451298E-4	0.0
18	44416484	C	G	18	46836521	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.77667642255567E-5	0.002
18	44416484	C	T	18	46836521	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.02559814545082E-4	0.002
18	44416485	A	C	18	46836522	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996773486259727	0.892
18	44416485	A	G	18	46836522	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.527581098349691	0.494
18	44416485	A	T	18	46836522	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99989019382606	0.952
18	44416486	G	A	18	46836523	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.09527002862468E-5	0.004
18	44416486	G	C	18	46836523	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00857848282545662	0.18
18	44416486	G	T	18	46836523	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0193595331979092	0.204
18	44416487	G	A	18	46836524	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.29810244753133E-4	0.014
18	44416487	G	C	18	46836524	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00288127534588484	0.126
18	44416487	G	T	18	46836524	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00305040950437367	0.128
18	44416488	A	C	18	46836525	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.657192515325827	0.476
18	44416488	A	G	18	46836525	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0387416443784679	0.376
18	44416488	A	T	18	46836525	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.815400939427168	0.49
18	44416489	C	A	18	46836526	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.73531556550032E-4	0.174
18	44416489	C	G	18	46836526	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.69234494170291E-4	0.166
18	44416489	C	T	18	46836526	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.4326054659192E-4	0.128
18	44416490	A	C	18	46836527	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.991445064143394	0.766
18	44416490	A	G	18	46836527	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.607449286874383	0.4
18	44416490	A	T	18	46836527	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999986109770775	0.976
18	44416491	G	A	18	46836528	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.918140181502792	0.71
18	44416491	G	C	18	46836528	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.845169765347567	0.628
18	44416491	G	T	18	46836528	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.978855343915421	0.612
18	44416492	G	A	18	46836529	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.08027959429959E-5	0.1
18	44416492	G	C	18	46836529	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.41952564604919E-5	0.06
18	44416492	G	T	18	46836529	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.00031226274019E-4	0.068
18	44424009	T	A	18	46844046	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.55450951499092E-5	0.022
18	44424009	T	C	18	46844046	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.07837954537728E-5	0.024
18	44424009	T	G	18	46844046	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.55450951499092E-5	0.024
18	44424010	T	A	18	46844047	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.0285928087523E-4	0.01
18	44424010	T	C	18	46844047	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.0285928087523E-4	0.012
18	44424010	T	G	18	46844047	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.0285928087523E-4	0.01
18	44424011	A	C	18	46844048	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.990446613940722	0.742
18	44424011	A	G	18	46844048	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99344360218233	0.834
18	44424011	A	T	18	46844048	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997605301850639	0.732
18	44424012	C	A	18	46844049	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999984493604872	0.978
18	44424012	C	G	18	46844049	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99999255449767	0.976
18	44424012	C	T	18	46844049	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999987814105535	0.998
18	44424013	T	A	18	46844050	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999110630119572	0.96
18	44424013	T	C	18	46844050	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998833864267305	0.986
18	44424013	T	G	18	46844050	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999232066924116	0.936
18	44424014	T	A	18	46844051	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999781296218091	0.934
18	44424014	T	C	18	46844051	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.113669210842225	0.242
18	44424014	T	G	18	46844051	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999702513581751	0.892
18	44424015	A	C	18	46844052	y	y	splicing	PIAS2(NM_004671:exon9:c.1041+2T>G;NM_173206:exon9:c.1041+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.1041+2T>G;ENST00000398654:exon8:c.956+2T>G;ENST00000545673:exon8:c.171+2T>G;ENST00000324794:exon9:c.1041+2T>G)	.	.	0.999988247793601	0.932
18	44424015	A	G	18	46844052	y	y	splicing	PIAS2(NM_004671:exon9:c.1041+2T>C;NM_173206:exon9:c.1041+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.1041+2T>C;ENST00000398654:exon8:c.956+2T>C;ENST00000545673:exon8:c.171+2T>C;ENST00000324794:exon9:c.1041+2T>C)	.	.	0.995320650369382	0.714
18	44424015	A	T	18	46844052	y	y	splicing	PIAS2(NM_004671:exon9:c.1041+2T>A;NM_173206:exon9:c.1041+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.1041+2T>A;ENST00000398654:exon8:c.956+2T>A;ENST00000545673:exon8:c.171+2T>A;ENST00000324794:exon9:c.1041+2T>A)	.	.	0.999988247793601	0.932
18	44424016	C	A	18	46844053	y	y	splicing	PIAS2(NM_004671:exon9:c.1041+1G>T;NM_173206:exon9:c.1041+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.1041+1G>T;ENST00000398654:exon8:c.956+1G>T;ENST00000545673:exon8:c.171+1G>T;ENST00000324794:exon9:c.1041+1G>T)	.	.	0.999990361384395	0.938
18	44424016	C	G	18	46844053	y	y	splicing	PIAS2(NM_004671:exon9:c.1041+1G>C;NM_173206:exon9:c.1041+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.1041+1G>C;ENST00000398654:exon8:c.956+1G>C;ENST00000545673:exon8:c.171+1G>C;ENST00000324794:exon9:c.1041+1G>C)	.	.	0.999990361384395	0.938
18	44424016	C	T	18	46844053	y	y	splicing	PIAS2(NM_004671:exon9:c.1041+1G>A;NM_173206:exon9:c.1041+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.1041+1G>A;ENST00000398654:exon8:c.956+1G>A;ENST00000545673:exon8:c.171+1G>A;ENST00000324794:exon9:c.1041+1G>A)	.	.	0.999990361384395	0.938
18	44424017	A	C	18	46844054	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon8:c.T1041G:p.P347P;PIAS2:NM_004671:exon8:c.T1041G:p.P347P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T1041G:p.P347P;ENSG00000078043:ENST00000545673:exon7:c.T171G:p.P57P;ENSG00000078043:ENST00000585916:exon8:c.T1041G:p.P347P;	3.52211743039653E-4	0.046
18	44424017	A	G	18	46844054	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon8:c.T1041C:p.P347P;PIAS2:NM_004671:exon8:c.T1041C:p.P347P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T1041C:p.P347P;ENSG00000078043:ENST00000545673:exon7:c.T171C:p.P57P;ENSG00000078043:ENST00000585916:exon8:c.T1041C:p.P347P;	0.00196774834626803	0.252
18	44424017	A	T	18	46844054	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon8:c.T1041A:p.P347P;PIAS2:NM_004671:exon8:c.T1041A:p.P347P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T1041A:p.P347P;ENSG00000078043:ENST00000545673:exon7:c.T171A:p.P57P;ENSG00000078043:ENST00000585916:exon8:c.T1041A:p.P347P;	1.44522307145516E-4	0.016
18	44424018	G	A	18	46844055	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.C1040T:p.P347L;PIAS2:NM_004671:exon8:c.C1040T:p.P347L;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.C1040T:p.P347L;ENSG00000078043:ENST00000545673:exon7:c.C170T:p.P57L;ENSG00000078043:ENST00000585916:exon8:c.C1040T:p.P347L;	0.991394637633522	0.898
18	44424018	G	C	18	46844055	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.C1040G:p.P347R;PIAS2:NM_004671:exon8:c.C1040G:p.P347R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.C1040G:p.P347R;ENSG00000078043:ENST00000545673:exon7:c.C170G:p.P57R;ENSG00000078043:ENST00000585916:exon8:c.C1040G:p.P347R;	0.987325634486075	0.918
18	44424018	G	T	18	46844055	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.C1040A:p.P347H;PIAS2:NM_004671:exon8:c.C1040A:p.P347H;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.C1040A:p.P347H;ENSG00000078043:ENST00000545673:exon7:c.C170A:p.P57H;ENSG00000078043:ENST00000585916:exon8:c.C1040A:p.P347H;	0.97136039106616	0.688
18	44424019	G	A	18	46844056	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.C1039T:p.P347S;PIAS2:NM_004671:exon8:c.C1039T:p.P347S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.C1039T:p.P347S;ENSG00000078043:ENST00000545673:exon7:c.C169T:p.P57S;ENSG00000078043:ENST00000585916:exon8:c.C1039T:p.P347S;	0.999290008583048	0.794
18	44424019	G	C	18	46844056	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.C1039G:p.P347A;PIAS2:NM_004671:exon8:c.C1039G:p.P347A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.C1039G:p.P347A;ENSG00000078043:ENST00000545673:exon7:c.C169G:p.P57A;ENSG00000078043:ENST00000585916:exon8:c.C1039G:p.P347A;	0.955316323406039	0.656
18	44424019	G	T	18	46844056	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.C1039A:p.P347T;PIAS2:NM_004671:exon8:c.C1039A:p.P347T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.C1039A:p.P347T;ENSG00000078043:ENST00000545673:exon7:c.C169A:p.P57T;ENSG00000078043:ENST00000585916:exon8:c.C1039A:p.P347T;	0.956260194549831	0.79
18	44424089	A	C	18	46844126	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.T969G:p.I323M;PIAS2:NM_004671:exon8:c.T969G:p.I323M;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T969G:p.I323M;ENSG00000078043:ENST00000545673:exon7:c.T99G:p.I33M;ENSG00000078043:ENST00000585916:exon8:c.T969G:p.I323M;	0.00121368749472076	0.022
18	44424089	A	G	18	46844126	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon8:c.T969C:p.I323I;PIAS2:NM_004671:exon8:c.T969C:p.I323I;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T969C:p.I323I;ENSG00000078043:ENST00000545673:exon7:c.T99C:p.I33I;ENSG00000078043:ENST00000585916:exon8:c.T969C:p.I323I;	1.95869143277929E-4	0.006
18	44424089	A	T	18	46844126	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon8:c.T969A:p.I323I;PIAS2:NM_004671:exon8:c.T969A:p.I323I;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T969A:p.I323I;ENSG00000078043:ENST00000545673:exon7:c.T99A:p.I33I;ENSG00000078043:ENST00000585916:exon8:c.T969A:p.I323I;	7.00542713137242E-4	0.032
18	44424090	A	C	18	46844127	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.T968G:p.I323S;PIAS2:NM_004671:exon8:c.T968G:p.I323S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T968G:p.I323S;ENSG00000078043:ENST00000545673:exon7:c.T98G:p.I33S;ENSG00000078043:ENST00000585916:exon8:c.T968G:p.I323S;	0.782970221787936	0.606
18	44424090	A	G	18	46844127	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.T968C:p.I323T;PIAS2:NM_004671:exon8:c.T968C:p.I323T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T968C:p.I323T;ENSG00000078043:ENST00000545673:exon7:c.T98C:p.I33T;ENSG00000078043:ENST00000585916:exon8:c.T968C:p.I323T;	0.919290352744398	0.578
18	44424090	A	T	18	46844127	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon8:c.T968A:p.I323N;PIAS2:NM_004671:exon8:c.T968A:p.I323N;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon8:c.T968A:p.I323N;ENSG00000078043:ENST00000545673:exon7:c.T98A:p.I33N;ENSG00000078043:ENST00000585916:exon8:c.T968A:p.I323N;	0.646154429301663	0.67
18	44424091	C	A	18	46844128	y	y	splicing	PIAS2(NM_004671:exon9:c.968-1G>T;NM_173206:exon9:c.968-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.968-1G>T;ENST00000398654:exon8:c.883-1G>T;ENST00000545673:exon8:c.98-1G>T;ENST00000324794:exon9:c.968-1G>T)	.	.	0.999951180921224	0.948
18	44424091	C	G	18	46844128	y	y	splicing	PIAS2(NM_004671:exon9:c.968-1G>C;NM_173206:exon9:c.968-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.968-1G>C;ENST00000398654:exon8:c.883-1G>C;ENST00000545673:exon8:c.98-1G>C;ENST00000324794:exon9:c.968-1G>C)	.	.	0.999951180921224	0.948
18	44424091	C	T	18	46844128	y	y	splicing	PIAS2(NM_004671:exon9:c.968-1G>A;NM_173206:exon9:c.968-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.968-1G>A;ENST00000398654:exon8:c.883-1G>A;ENST00000545673:exon8:c.98-1G>A;ENST00000324794:exon9:c.968-1G>A)	.	.	0.999951180921224	0.938
18	44424092	T	A	18	46844129	y	y	splicing	PIAS2(NM_004671:exon9:c.968-2A>T;NM_173206:exon9:c.968-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.968-2A>T;ENST00000398654:exon8:c.883-2A>T;ENST00000545673:exon8:c.98-2A>T;ENST00000324794:exon9:c.968-2A>T)	.	.	0.99994568797423	0.944
18	44424092	T	C	18	46844129	y	y	splicing	PIAS2(NM_004671:exon9:c.968-2A>G;NM_173206:exon9:c.968-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.968-2A>G;ENST00000398654:exon8:c.883-2A>G;ENST00000545673:exon8:c.98-2A>G;ENST00000324794:exon9:c.968-2A>G)	.	.	0.99994568797423	0.948
18	44424092	T	G	18	46844129	y	y	splicing	PIAS2(NM_004671:exon9:c.968-2A>C;NM_173206:exon9:c.968-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon9:c.968-2A>C;ENST00000398654:exon8:c.883-2A>C;ENST00000545673:exon8:c.98-2A>C;ENST00000324794:exon9:c.968-2A>C)	.	.	0.99994568797423	0.948
18	44424093	T	A	18	46844130	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.41975956814663E-5	0.0
18	44424093	T	C	18	46844130	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.522199159122943	0.362
18	44424093	T	G	18	46844130	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.53387973005413E-5	0.028
18	44424094	T	A	18	46844131	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.43847914452673E-5	0.002
18	44424094	T	C	18	46844131	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.48314569521623E-5	0.006
18	44424094	T	G	18	46844131	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.1999460904807E-5	0.0
18	44424095	A	C	18	46844132	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.88312620750438E-4	0.09
18	44424095	A	G	18	46844132	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.28300739591084E-5	0.0
18	44424095	A	T	18	46844132	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.03204870373725E-4	0.074
18	44424096	A	C	18	46844133	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0010981011403466	0.112
18	44424096	A	G	18	46844133	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.33833030841923E-5	0.012
18	44424096	A	T	18	46844133	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0010981011403466	0.1
18	44424097	A	C	18	46844134	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00993093496277133	0.032
18	44424097	A	G	18	46844134	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.5679042102041E-4	0.002
18	44424097	A	T	18	46844134	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0113867745118502	0.044
18	44424098	A	C	18	46844135	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.92631915356285E-5	0.036
18	44424098	A	G	18	46844135	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.22320831164585E-6	0.0
18	44424098	A	T	18	46844135	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.10141050905299E-4	0.026
18	44424099	A	C	18	46844136	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.75263390744153E-4	0.05
18	44424099	A	G	18	46844136	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.81533028304985E-5	0.0
18	44424099	A	T	18	46844136	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.5096331243431E-4	0.046
18	44424100	G	A	18	46844137	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.88342180028151E-5	0.004
18	44424100	G	C	18	46844137	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.8019865686168E-4	0.038
18	44424100	G	T	18	46844137	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.91414710876124E-4	0.022
18	44424101	A	C	18	46844138	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.01964195083569E-4	0.232
18	44424101	A	G	18	46844138	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.72304673294261E-4	0.122
18	44424101	A	T	18	46844138	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00202501600223264	0.222
18	44424102	A	C	18	46844139	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.15098845216599E-4	0.038
18	44424102	A	G	18	46844139	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.03416896107563E-5	0.004
18	44424102	A	T	18	46844139	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.30056020132507E-4	0.038
18	44424689	T	A	18	46844726	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.46187196372031E-4	0.004
18	44424689	T	C	18	46844726	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.59423685185596E-4	0.014
18	44424689	T	G	18	46844726	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.50875701356657E-4	0.006
18	44424690	T	A	18	46844727	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00641370016446127	0.032
18	44424690	T	C	18	46844727	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0062912905644411	0.02
18	44424690	T	G	18	46844727	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0062912905644411	0.02
18	44424691	A	C	18	46844728	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99716234480993	0.868
18	44424691	A	G	18	46844728	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.964204672606981	0.788
18	44424691	A	T	18	46844728	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.994417373094086	0.798
18	44424692	C	A	18	46844729	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999967506501479	0.926
18	44424692	C	G	18	46844729	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999934408160126	0.984
18	44424692	C	T	18	46844729	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999968007478051	0.926
18	44424693	T	A	18	46844730	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996279183455869	0.918
18	44424693	T	C	18	46844730	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997717333002198	0.962
18	44424693	T	G	18	46844730	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998551559923022	0.942
18	44424694	T	A	18	46844731	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999632174459023	0.962
18	44424694	T	C	18	46844731	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.850729808429352	0.534
18	44424694	T	G	18	46844731	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999886021989469	0.974
18	44424695	A	C	18	46844732	y	y	splicing	PIAS2(NM_004671:exon8:c.967+2T>G;NM_173206:exon8:c.967+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.967+2T>G;ENST00000398654:exon7:c.882+2T>G;ENST00000545673:exon7:c.97+2T>G;ENST00000324794:exon8:c.967+2T>G)	.	.	0.999989917668626	0.928
18	44424695	A	G	18	46844732	y	y	splicing	PIAS2(NM_004671:exon8:c.967+2T>C;NM_173206:exon8:c.967+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.967+2T>C;ENST00000398654:exon7:c.882+2T>C;ENST00000545673:exon7:c.97+2T>C;ENST00000324794:exon8:c.967+2T>C)	.	.	0.993179459523591	0.656
18	44424695	A	T	18	46844732	y	y	splicing	PIAS2(NM_004671:exon8:c.967+2T>A;NM_173206:exon8:c.967+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.967+2T>A;ENST00000398654:exon7:c.882+2T>A;ENST00000545673:exon7:c.97+2T>A;ENST00000324794:exon8:c.967+2T>A)	.	.	0.999989917668626	0.928
18	44424696	C	A	18	46844733	y	y	splicing	PIAS2(NM_004671:exon8:c.967+1G>T;NM_173206:exon8:c.967+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.967+1G>T;ENST00000398654:exon7:c.882+1G>T;ENST00000545673:exon7:c.97+1G>T;ENST00000324794:exon8:c.967+1G>T)	.	.	0.999981760802075	0.938
18	44424696	C	G	18	46844733	y	y	splicing	PIAS2(NM_004671:exon8:c.967+1G>C;NM_173206:exon8:c.967+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.967+1G>C;ENST00000398654:exon7:c.882+1G>C;ENST00000545673:exon7:c.97+1G>C;ENST00000324794:exon8:c.967+1G>C)	.	.	0.999981760802075	0.938
18	44424696	C	T	18	46844733	y	y	splicing	PIAS2(NM_004671:exon8:c.967+1G>A;NM_173206:exon8:c.967+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.967+1G>A;ENST00000398654:exon7:c.882+1G>A;ENST00000545673:exon7:c.97+1G>A;ENST00000324794:exon8:c.967+1G>A)	.	.	0.999981760802075	0.938
18	44424697	T	A	18	46844734	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A967T:p.I323F;PIAS2:NM_004671:exon7:c.A967T:p.I323F;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A967T:p.I323F;ENSG00000078043:ENST00000545673:exon6:c.A97T:p.I33F;ENSG00000078043:ENST00000585916:exon7:c.A967T:p.I323F;	0.828456786327548	0.744
18	44424697	T	C	18	46844734	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A967G:p.I323V;PIAS2:NM_004671:exon7:c.A967G:p.I323V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A967G:p.I323V;ENSG00000078043:ENST00000545673:exon6:c.A97G:p.I33V;ENSG00000078043:ENST00000585916:exon7:c.A967G:p.I323V;	0.163056705322427	0.262
18	44424697	T	G	18	46844734	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A967C:p.I323L;PIAS2:NM_004671:exon7:c.A967C:p.I323L;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A967C:p.I323L;ENSG00000078043:ENST00000545673:exon6:c.A97C:p.I33L;ENSG00000078043:ENST00000585916:exon7:c.A967C:p.I323L;	0.649971080213441	0.758
18	44424698	T	A	18	46844735	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon7:c.A966T:p.L322L;PIAS2:NM_004671:exon7:c.A966T:p.L322L;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A966T:p.L322L;ENSG00000078043:ENST00000545673:exon6:c.A96T:p.L32L;ENSG00000078043:ENST00000585916:exon7:c.A966T:p.L322L;	0.64866213055882	0.776
18	44424698	T	C	18	46844735	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon7:c.A966G:p.L322L;PIAS2:NM_004671:exon7:c.A966G:p.L322L;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A966G:p.L322L;ENSG00000078043:ENST00000545673:exon6:c.A96G:p.L32L;ENSG00000078043:ENST00000585916:exon7:c.A966G:p.L322L;	0.116665516649254	0.524
18	44424698	T	G	18	46844735	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon7:c.A966C:p.L322L;PIAS2:NM_004671:exon7:c.A966C:p.L322L;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A966C:p.L322L;ENSG00000078043:ENST00000545673:exon6:c.A96C:p.L32L;ENSG00000078043:ENST00000585916:exon7:c.A966C:p.L322L;	0.259591267357087	0.756
18	44424699	A	C	18	46844736	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.T965G:p.L322R;PIAS2:NM_004671:exon7:c.T965G:p.L322R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.T965G:p.L322R;ENSG00000078043:ENST00000545673:exon6:c.T95G:p.L32R;ENSG00000078043:ENST00000585916:exon7:c.T965G:p.L322R;	0.554326424005598	0.666
18	44424699	A	G	18	46844736	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.T965C:p.L322P;PIAS2:NM_004671:exon7:c.T965C:p.L322P;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.T965C:p.L322P;ENSG00000078043:ENST00000545673:exon6:c.T95C:p.L32P;ENSG00000078043:ENST00000585916:exon7:c.T965C:p.L322P;	0.711537021932293	0.688
18	44424699	A	T	18	46844736	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.T965A:p.L322Q;PIAS2:NM_004671:exon7:c.T965A:p.L322Q;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.T965A:p.L322Q;ENSG00000078043:ENST00000545673:exon6:c.T95A:p.L32Q;ENSG00000078043:ENST00000585916:exon7:c.T965A:p.L322Q;	0.676639609770672	0.586
18	44424801	T	A	18	46844838	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A863T:p.N288I;PIAS2:NM_004671:exon7:c.A863T:p.N288I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A863T:p.N288I;ENSG00000078043:ENST00000585916:exon7:c.A863T:p.N288I;	0.112730526730245	0.368
18	44424801	T	C	18	46844838	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A863G:p.N288S;PIAS2:NM_004671:exon7:c.A863G:p.N288S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A863G:p.N288S;ENSG00000078043:ENST00000585916:exon7:c.A863G:p.N288S;	0.00123008557902245	0.024
18	44424801	T	G	18	46844838	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A863C:p.N288T;PIAS2:NM_004671:exon7:c.A863C:p.N288T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A863C:p.N288T;ENSG00000078043:ENST00000585916:exon7:c.A863C:p.N288T;	0.00500976558893143	0.044
18	44424802	T	A	18	46844839	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A862T:p.N288Y;PIAS2:NM_004671:exon7:c.A862T:p.N288Y;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A862T:p.N288Y;ENSG00000078043:ENST00000585916:exon7:c.A862T:p.N288Y;	0.54422144900755	0.614
18	44424802	T	C	18	46844839	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A862G:p.N288D;PIAS2:NM_004671:exon7:c.A862G:p.N288D;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A862G:p.N288D;ENSG00000078043:ENST00000585916:exon7:c.A862G:p.N288D;	0.701500988212742	0.674
18	44424802	T	G	18	46844839	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon7:c.A862C:p.N288H;PIAS2:NM_004671:exon7:c.A862C:p.N288H;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon7:c.A862C:p.N288H;ENSG00000078043:ENST00000585916:exon7:c.A862C:p.N288H;	0.601577460775291	0.68
18	44424803	C	A	18	46844840	y	y	splicing	PIAS2(NM_004671:exon8:c.862-1G>T;NM_173206:exon8:c.862-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.862-1G>T;ENST00000398654:exon7:c.777-1G>T;ENST00000324794:exon8:c.862-1G>T)	.	.	0.999983327830521	0.938
18	44424803	C	G	18	46844840	y	y	splicing	PIAS2(NM_004671:exon8:c.862-1G>C;NM_173206:exon8:c.862-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.862-1G>C;ENST00000398654:exon7:c.777-1G>C;ENST00000324794:exon8:c.862-1G>C)	.	.	0.999983327830521	0.938
18	44424803	C	T	18	46844840	y	y	splicing	PIAS2(NM_004671:exon8:c.862-1G>A;NM_173206:exon8:c.862-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.862-1G>A;ENST00000398654:exon7:c.777-1G>A;ENST00000324794:exon8:c.862-1G>A)	.	.	0.999983327830521	0.938
18	44424804	T	A	18	46844841	y	y	splicing	PIAS2(NM_004671:exon8:c.862-2A>T;NM_173206:exon8:c.862-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.862-2A>T;ENST00000398654:exon7:c.777-2A>T;ENST00000324794:exon8:c.862-2A>T)	.	.	0.999988247793601	0.93
18	44424804	T	C	18	46844841	y	y	splicing	PIAS2(NM_004671:exon8:c.862-2A>G;NM_173206:exon8:c.862-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.862-2A>G;ENST00000398654:exon7:c.777-2A>G;ENST00000324794:exon8:c.862-2A>G)	.	.	0.999988247793601	0.93
18	44424804	T	G	18	46844841	y	y	splicing	PIAS2(NM_004671:exon8:c.862-2A>C;NM_173206:exon8:c.862-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon8:c.862-2A>C;ENST00000398654:exon7:c.777-2A>C;ENST00000324794:exon8:c.862-2A>C)	.	.	0.999988247793601	0.93
18	44424805	A	C	18	46844842	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998474934380675	0.83
18	44424805	A	G	18	46844842	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.33382596653736E-4	0.01
18	44424805	A	T	18	46844842	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.170209288002109	0.272
18	44424806	C	A	18	46844843	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0043856013204668	0.032
18	44424806	C	G	18	46844843	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00111527449897017	0.02
18	44424806	C	T	18	46844843	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00801761515933075	0.04
18	44424807	A	C	18	46844844	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.285506446754026	0.288
18	44424807	A	G	18	46844844	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.04117633825106E-5	0.006
18	44424807	A	T	18	46844844	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996370510080552	0.878
18	44424808	A	C	18	46844845	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0282885481781463	0.336
18	44424808	A	G	18	46844845	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.08697052044912E-5	0.0
18	44424808	A	T	18	46844845	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0135103945737252	0.324
18	44424809	A	C	18	46844846	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0576306885371532	0.296
18	44424809	A	G	18	46844846	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.17913328557101E-4	0.008
18	44424809	A	T	18	46844846	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0388733437343747	0.308
18	44424810	C	A	18	46844847	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.22062526556768E-5	0.004
18	44424810	C	G	18	46844847	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.80933527371197E-5	0.004
18	44424810	C	T	18	46844847	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.61895752568354E-4	0.01
18	44424811	A	C	18	46844848	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0574499900567713	0.354
18	44424811	A	G	18	46844848	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.26825504083319E-4	0.002
18	44424811	A	T	18	46844848	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998294210328609	0.938
18	44424812	A	C	18	46844849	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0115884830926226	0.328
18	44424812	A	G	18	46844849	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.95311364353884E-4	0.004
18	44424812	A	T	18	46844849	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.129437186678158	0.342
18	44424813	A	C	18	46844850	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.525811588097443	0.536
18	44424813	A	G	18	46844850	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0497867624981555	0.218
18	44424813	A	T	18	46844850	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.61611999337779	0.574
18	44424814	C	A	18	46844851	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.7122849485702E-5	0.004
18	44424814	C	G	18	46844851	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.44357596886365E-5	0.006
18	44424814	C	T	18	46844851	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.05187340665927E-5	0.0
18	44426662	G	A	18	46846699	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.78389654127837E-5	0.0
18	44426662	G	C	18	46846699	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.83277102901073E-5	0.0
18	44426662	G	T	18	46846699	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.83277102901073E-5	0.0
18	44426663	C	A	18	46846700	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.78543216100252E-5	0.0
18	44426663	C	G	18	46846700	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.54074382803949E-5	0.0
18	44426663	C	T	18	46846700	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.42168608306342E-5	0.0
18	44426664	T	A	18	46846701	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.76726488535292E-5	0.002
18	44426664	T	C	18	46846701	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.41413882825308E-4	0.0
18	44426664	T	G	18	46846701	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.63340019380908E-4	0.018
18	44426665	T	A	18	46846702	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.65321579918168E-4	0.11
18	44426665	T	C	18	46846702	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.76834992416777E-4	0.076
18	44426665	T	G	18	46846702	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.16907136037204E-4	0.048
18	44426666	T	A	18	46846703	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.83307768572436	0.6
18	44426666	T	C	18	46846703	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.899329600468817	0.706
18	44426666	T	G	18	46846703	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.411625247407097	0.434
18	44426667	T	A	18	46846704	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999937217336559	0.956
18	44426667	T	C	18	46846704	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996869501717366	0.826
18	44426667	T	G	18	46846704	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999940559473784	0.982
18	44426668	A	C	18	46846705	y	y	splicing	PIAS2(NM_004671:exon7:c.861+2T>G;NM_173206:exon7:c.861+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.861+2T>G;ENST00000398654:exon6:c.776+2T>G;ENST00000324794:exon7:c.861+2T>G)	.	.	0.999989917668626	0.952
18	44426668	A	G	18	46846705	y	y	splicing	PIAS2(NM_004671:exon7:c.861+2T>C;NM_173206:exon7:c.861+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.861+2T>C;ENST00000398654:exon6:c.776+2T>C;ENST00000324794:exon7:c.861+2T>C)	.	.	0.992323021482646	0.642
18	44426668	A	T	18	46846705	y	y	splicing	PIAS2(NM_004671:exon7:c.861+2T>A;NM_173206:exon7:c.861+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.861+2T>A;ENST00000398654:exon6:c.776+2T>A;ENST00000324794:exon7:c.861+2T>A)	.	.	0.999989917668626	0.952
18	44426669	C	A	18	46846706	y	y	splicing	PIAS2(NM_004671:exon7:c.861+1G>T;NM_173206:exon7:c.861+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.861+1G>T;ENST00000398654:exon6:c.776+1G>T;ENST00000324794:exon7:c.861+1G>T)	.	.	0.999981760802075	0.96
18	44426669	C	G	18	46846706	y	y	splicing	PIAS2(NM_004671:exon7:c.861+1G>C;NM_173206:exon7:c.861+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.861+1G>C;ENST00000398654:exon6:c.776+1G>C;ENST00000324794:exon7:c.861+1G>C)	.	.	0.999981760802075	0.96
18	44426669	C	T	18	46846706	y	y	splicing	PIAS2(NM_004671:exon7:c.861+1G>A;NM_173206:exon7:c.861+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.861+1G>A;ENST00000398654:exon6:c.776+1G>A;ENST00000324794:exon7:c.861+1G>A)	.	.	0.999981760802075	0.96
18	44426670	C	A	18	46846707	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.G861T:p.K287N;PIAS2:NM_004671:exon6:c.G861T:p.K287N;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G861T:p.K287N;ENSG00000078043:ENST00000585916:exon6:c.G861T:p.K287N;	0.999992189492819	1.0
18	44426670	C	G	18	46846707	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.G861C:p.K287N;PIAS2:NM_004671:exon6:c.G861C:p.K287N;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G861C:p.K287N;ENSG00000078043:ENST00000585916:exon6:c.G861C:p.K287N;	0.9999981677847	1.0
18	44426670	C	T	18	46846707	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon6:c.G861A:p.K287K;PIAS2:NM_004671:exon6:c.G861A:p.K287K;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G861A:p.K287K;ENSG00000078043:ENST00000585916:exon6:c.G861A:p.K287K;	0.999979906678848	1.0
18	44426671	T	A	18	46846708	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.A860T:p.K287M;PIAS2:NM_004671:exon6:c.A860T:p.K287M;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.A860T:p.K287M;ENSG00000078043:ENST00000585916:exon6:c.A860T:p.K287M;	0.999885712765034	0.996
18	44426671	T	C	18	46846708	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.A860G:p.K287R;PIAS2:NM_004671:exon6:c.A860G:p.K287R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.A860G:p.K287R;ENSG00000078043:ENST00000585916:exon6:c.A860G:p.K287R;	0.995156831468353	0.742
18	44426671	T	G	18	46846708	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.A860C:p.K287T;PIAS2:NM_004671:exon6:c.A860C:p.K287T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.A860C:p.K287T;ENSG00000078043:ENST00000585916:exon6:c.A860C:p.K287T;	0.999808127230876	0.996
18	44426672	T	A	18	46846709	y	y	exonic	PIAS2	stopgain SNV	PIAS2:NM_173206:exon6:c.A859T:p.K287X;PIAS2:NM_004671:exon6:c.A859T:p.K287X;	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000324794:exon6:c.A859T:p.K287X;ENSG00000078043:ENST00000585916:exon6:c.A859T:p.K287X;	0.998580541723317	0.83
18	44426672	T	C	18	46846709	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.A859G:p.K287E;PIAS2:NM_004671:exon6:c.A859G:p.K287E;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.A859G:p.K287E;ENSG00000078043:ENST00000585916:exon6:c.A859G:p.K287E;	0.549258923371572	0.394
18	44426672	T	G	18	46846709	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.A859C:p.K287Q;PIAS2:NM_004671:exon6:c.A859C:p.K287Q;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.A859C:p.K287Q;ENSG00000078043:ENST00000585916:exon6:c.A859C:p.K287Q;	0.766469525244443	0.654
18	44426803	C	A	18	46846840	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.G728T:p.G243V;PIAS2:NM_004671:exon6:c.G728T:p.G243V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G728T:p.G243V;ENSG00000078043:ENST00000585916:exon6:c.G728T:p.G243V;	0.978892224776707	0.758
18	44426803	C	G	18	46846840	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.G728C:p.G243A;PIAS2:NM_004671:exon6:c.G728C:p.G243A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G728C:p.G243A;ENSG00000078043:ENST00000585916:exon6:c.G728C:p.G243A;	0.965741194015199	0.818
18	44426803	C	T	18	46846840	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.G728A:p.G243D;PIAS2:NM_004671:exon6:c.G728A:p.G243D;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G728A:p.G243D;ENSG00000078043:ENST00000585916:exon6:c.G728A:p.G243D;	0.987379284805839	0.866
18	44426804	C	A	18	46846841	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.G727T:p.G243C;PIAS2:NM_004671:exon6:c.G727T:p.G243C;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G727T:p.G243C;ENSG00000078043:ENST00000585916:exon6:c.G727T:p.G243C;	0.999924705827005	0.984
18	44426804	C	G	18	46846841	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.G727C:p.G243R;PIAS2:NM_004671:exon6:c.G727C:p.G243R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G727C:p.G243R;ENSG00000078043:ENST00000585916:exon6:c.G727C:p.G243R;	0.999810481439017	0.954
18	44426804	C	T	18	46846841	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon6:c.G727A:p.G243S;PIAS2:NM_004671:exon6:c.G727A:p.G243S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon6:c.G727A:p.G243S;ENSG00000078043:ENST00000585916:exon6:c.G727A:p.G243S;	0.999856290852159	0.958
18	44426805	C	A	18	46846842	y	y	splicing	PIAS2(NM_004671:exon7:c.727-1G>T;NM_173206:exon7:c.727-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.727-1G>T;ENST00000398654:exon6:c.642-1G>T;ENST00000324794:exon7:c.727-1G>T)	.	.	0.999985532734767	0.95
18	44426805	C	G	18	46846842	y	y	splicing	PIAS2(NM_004671:exon7:c.727-1G>C;NM_173206:exon7:c.727-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.727-1G>C;ENST00000398654:exon6:c.642-1G>C;ENST00000324794:exon7:c.727-1G>C)	.	.	0.999985532734767	0.95
18	44426805	C	T	18	46846842	y	y	splicing	PIAS2(NM_004671:exon7:c.727-1G>A;NM_173206:exon7:c.727-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.727-1G>A;ENST00000398654:exon6:c.642-1G>A;ENST00000324794:exon7:c.727-1G>A)	.	.	0.999985532734767	0.95
18	44426806	T	A	18	46846843	y	y	splicing	PIAS2(NM_004671:exon7:c.727-2A>T;NM_173206:exon7:c.727-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.727-2A>T;ENST00000398654:exon6:c.642-2A>T;ENST00000324794:exon7:c.727-2A>T)	.	.	0.999988247793601	0.952
18	44426806	T	C	18	46846843	y	y	splicing	PIAS2(NM_004671:exon7:c.727-2A>G;NM_173206:exon7:c.727-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.727-2A>G;ENST00000398654:exon6:c.642-2A>G;ENST00000324794:exon7:c.727-2A>G)	.	.	0.999988247793601	0.952
18	44426806	T	G	18	46846843	y	y	splicing	PIAS2(NM_004671:exon7:c.727-2A>C;NM_173206:exon7:c.727-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon7:c.727-2A>C;ENST00000398654:exon6:c.642-2A>C;ENST00000324794:exon7:c.727-2A>C)	.	.	0.999988247793601	0.952
18	44426807	A	C	18	46846844	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997754710436613	0.72
18	44426807	A	G	18	46846844	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.9800656366471E-5	0.012
18	44426807	A	T	18	46846844	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0220959643434584	0.332
18	44426808	T	A	18	46846845	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.31088672790314E-4	0.034
18	44426808	T	C	18	46846845	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.68454185955289E-4	0.054
18	44426808	T	G	18	46846845	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.34873800970815E-5	0.036
18	44426809	A	C	18	46846846	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.928254362086979	0.714
18	44426809	A	G	18	46846846	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00599440415332309	0.144
18	44426809	A	T	18	46846846	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.894555625994012	0.74
18	44426810	A	C	18	46846847	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0102159080440702	0.416
18	44426810	A	G	18	46846847	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00145510620553947	0.106
18	44426810	A	T	18	46846847	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.041965753034299	0.414
18	44426811	C	A	18	46846848	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.97156404244932E-5	0.0
18	44426811	C	G	18	46846848	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.76726488535292E-5	0.0
18	44426811	C	T	18	46846848	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.09959864592012E-5	0.0
18	44426812	C	A	18	46846849	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.70414912842622E-5	0.014
18	44426812	C	G	18	46846849	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.70414912842622E-5	0.004
18	44426812	C	T	18	46846849	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999759251626991	0.978
18	44426813	G	A	18	46846850	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.28532952877422E-5	0.0
18	44426813	G	C	18	46846850	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999390615115139	0.93
18	44426813	G	T	18	46846850	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999180749849232	0.918
18	44426814	T	A	18	46846851	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.71869413685155E-5	0.002
18	44426814	T	C	18	46846851	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.75453022902877E-4	0.0
18	44426814	T	G	18	46846851	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.71869413685155E-5	0.0
18	44426815	A	C	18	46846852	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.415726749650873	0.546
18	44426815	A	G	18	46846852	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.56227403369456E-4	0.26
18	44426815	A	T	18	46846852	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.276180363019372	0.576
18	44426816	A	C	18	46846853	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0240281511079994	0.356
18	44426816	A	G	18	46846853	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00874472631648115	0.15
18	44426816	A	T	18	46846853	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0579385181555996	0.484
18	44435300	C	A	18	46855337	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.41869574448387E-4	0.014
18	44435300	C	G	18	46855337	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.30401387676037E-4	0.006
18	44435300	C	T	18	46855337	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.01298255262944E-4	0.008
18	44435301	A	C	18	46855338	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.88512462761557E-4	0.016
18	44435301	A	G	18	46855338	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.88512462761557E-4	0.012
18	44435301	A	T	18	46855338	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.92382140215075E-4	0.006
18	44435302	A	C	18	46855339	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997692568496422	0.872
18	44435302	A	G	18	46855339	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.993654315794643	0.948
18	44435302	A	T	18	46855339	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99741342949905	0.832
18	44435303	C	A	18	46855340	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999951184657654	0.994
18	44435303	C	G	18	46855340	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99997914857947	0.936
18	44435303	C	T	18	46855340	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999951184657654	1.0
18	44435304	T	A	18	46855341	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996904236525266	0.87
18	44435304	T	C	18	46855341	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.992742514350926	0.912
18	44435304	T	G	18	46855341	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.977541216172511	0.708
18	44435305	T	A	18	46855342	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999833157283523	0.952
18	44435305	T	C	18	46855342	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.778154462341502	0.436
18	44435305	T	G	18	46855342	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999803344021048	0.934
18	44435306	A	C	18	46855343	y	y	splicing	PIAS2(NM_004671:exon6:c.726+2T>G;NM_173206:exon6:c.726+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.726+2T>G;ENST00000398654:exon5:c.641+2T>G;ENST00000324794:exon6:c.726+2T>G)	.	.	0.999989917668626	0.928
18	44435306	A	G	18	46855343	y	y	splicing	PIAS2(NM_004671:exon6:c.726+2T>C;NM_173206:exon6:c.726+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.726+2T>C;ENST00000398654:exon5:c.641+2T>C;ENST00000324794:exon6:c.726+2T>C)	.	.	0.993179459523591	0.652
18	44435306	A	T	18	46855343	y	y	splicing	PIAS2(NM_004671:exon6:c.726+2T>A;NM_173206:exon6:c.726+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.726+2T>A;ENST00000398654:exon5:c.641+2T>A;ENST00000324794:exon6:c.726+2T>A)	.	.	0.999989917668626	0.928
18	44435307	C	A	18	46855344	y	y	splicing	PIAS2(NM_004671:exon6:c.726+1G>T;NM_173206:exon6:c.726+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.726+1G>T;ENST00000398654:exon5:c.641+1G>T;ENST00000324794:exon6:c.726+1G>T)	.	.	0.999985532734767	0.936
18	44435307	C	G	18	46855344	y	y	splicing	PIAS2(NM_004671:exon6:c.726+1G>C;NM_173206:exon6:c.726+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.726+1G>C;ENST00000398654:exon5:c.641+1G>C;ENST00000324794:exon6:c.726+1G>C)	.	.	0.999985532734767	0.936
18	44435307	C	T	18	46855344	y	y	splicing	PIAS2(NM_004671:exon6:c.726+1G>A;NM_173206:exon6:c.726+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.726+1G>A;ENST00000398654:exon5:c.641+1G>A;ENST00000324794:exon6:c.726+1G>A)	.	.	0.999985532734767	0.936
18	44435308	A	C	18	46855345	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon5:c.T726G:p.P242P;PIAS2:NM_004671:exon5:c.T726G:p.P242P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.T726G:p.P242P;ENSG00000078043:ENST00000585916:exon5:c.T726G:p.P242P;	3.30172260840889E-4	0.05
18	44435308	A	G	18	46855345	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon5:c.T726C:p.P242P;PIAS2:NM_004671:exon5:c.T726C:p.P242P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.T726C:p.P242P;ENSG00000078043:ENST00000585916:exon5:c.T726C:p.P242P;	0.0237099570996008	0.38
18	44435308	A	T	18	46855345	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon5:c.T726A:p.P242P;PIAS2:NM_004671:exon5:c.T726A:p.P242P;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.T726A:p.P242P;ENSG00000078043:ENST00000585916:exon5:c.T726A:p.P242P;	9.89073840726082E-4	0.016
18	44435309	G	A	18	46855346	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C725T:p.P242L;PIAS2:NM_004671:exon5:c.C725T:p.P242L;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C725T:p.P242L;ENSG00000078043:ENST00000585916:exon5:c.C725T:p.P242L;	0.995368645490873	0.904
18	44435309	G	C	18	46855346	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C725G:p.P242R;PIAS2:NM_004671:exon5:c.C725G:p.P242R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C725G:p.P242R;ENSG00000078043:ENST00000585916:exon5:c.C725G:p.P242R;	0.984476487440101	0.924
18	44435309	G	T	18	46855346	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C725A:p.P242H;PIAS2:NM_004671:exon5:c.C725A:p.P242H;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C725A:p.P242H;ENSG00000078043:ENST00000585916:exon5:c.C725A:p.P242H;	0.98471036889401	0.724
18	44435310	G	A	18	46855347	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C724T:p.P242S;PIAS2:NM_004671:exon5:c.C724T:p.P242S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C724T:p.P242S;ENSG00000078043:ENST00000585916:exon5:c.C724T:p.P242S;	0.999352136948636	0.792
18	44435310	G	C	18	46855347	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C724G:p.P242A;PIAS2:NM_004671:exon5:c.C724G:p.P242A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C724G:p.P242A;ENSG00000078043:ENST00000585916:exon5:c.C724G:p.P242A;	0.862486656718332	0.62
18	44435310	G	T	18	46855347	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C724A:p.P242T;PIAS2:NM_004671:exon5:c.C724A:p.P242T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C724A:p.P242T;ENSG00000078043:ENST00000585916:exon5:c.C724A:p.P242T;	0.913174903741276	0.792
18	44435397	G	A	18	46855434	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C637T:p.L213F;PIAS2:NM_004671:exon5:c.C637T:p.L213F;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C637T:p.L213F;ENSG00000078043:ENST00000585916:exon5:c.C637T:p.L213F;	0.00101712903833541	0.03
18	44435397	G	C	18	46855434	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C637G:p.L213V;PIAS2:NM_004671:exon5:c.C637G:p.L213V;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C637G:p.L213V;ENSG00000078043:ENST00000585916:exon5:c.C637G:p.L213V;	0.864700021796974	0.654
18	44435397	G	T	18	46855434	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.C637A:p.L213I;PIAS2:NM_004671:exon5:c.C637A:p.L213I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.C637A:p.L213I;ENSG00000078043:ENST00000585916:exon5:c.C637A:p.L213I;	0.034851112831758	0.046
18	44435398	T	A	18	46855435	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.A636T:p.R212S;PIAS2:NM_004671:exon5:c.A636T:p.R212S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.A636T:p.R212S;ENSG00000078043:ENST00000585916:exon5:c.A636T:p.R212S;	0.0638139445900852	0.168
18	44435398	T	C	18	46855435	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon5:c.A636G:p.R212R;PIAS2:NM_004671:exon5:c.A636G:p.R212R;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.A636G:p.R212R;ENSG00000078043:ENST00000585916:exon5:c.A636G:p.R212R;	2.7253902758468E-4	0.0
18	44435398	T	G	18	46855435	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon5:c.A636C:p.R212S;PIAS2:NM_004671:exon5:c.A636C:p.R212S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon5:c.A636C:p.R212S;ENSG00000078043:ENST00000585916:exon5:c.A636C:p.R212S;	0.0496812913855438	0.212
18	44435399	C	A	18	46855436	y	y	splicing	PIAS2(NM_004671:exon6:c.636-1G>T;NM_173206:exon6:c.636-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.636-1G>T;ENST00000398654:exon5:c.551-1G>T;ENST00000324794:exon6:c.636-1G>T)	.	.	0.999981760802075	0.938
18	44435399	C	G	18	46855436	y	y	splicing	PIAS2(NM_004671:exon6:c.636-1G>C;NM_173206:exon6:c.636-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.636-1G>C;ENST00000398654:exon5:c.551-1G>C;ENST00000324794:exon6:c.636-1G>C)	.	.	0.999981760802075	0.938
18	44435399	C	T	18	46855436	y	y	splicing	PIAS2(NM_004671:exon6:c.636-1G>A;NM_173206:exon6:c.636-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.636-1G>A;ENST00000398654:exon5:c.551-1G>A;ENST00000324794:exon6:c.636-1G>A)	.	.	0.999981760802075	0.938
18	44435400	T	A	18	46855437	y	y	splicing	PIAS2(NM_004671:exon6:c.636-2A>T;NM_173206:exon6:c.636-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.636-2A>T;ENST00000398654:exon5:c.551-2A>T;ENST00000324794:exon6:c.636-2A>T)	.	.	0.999986607513753	0.924
18	44435400	T	C	18	46855437	y	y	splicing	PIAS2(NM_004671:exon6:c.636-2A>G;NM_173206:exon6:c.636-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.636-2A>G;ENST00000398654:exon5:c.551-2A>G;ENST00000324794:exon6:c.636-2A>G)	.	.	0.999986607513753	0.922
18	44435400	T	G	18	46855437	y	y	splicing	PIAS2(NM_004671:exon6:c.636-2A>C;NM_173206:exon6:c.636-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon6:c.636-2A>C;ENST00000398654:exon5:c.551-2A>C;ENST00000324794:exon6:c.636-2A>C)	.	.	0.999986607513753	0.922
18	44435401	G	A	18	46855438	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00935543300061019	0.03
18	44435401	G	C	18	46855438	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999894576023619	0.966
18	44435401	G	T	18	46855438	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.968040459297702	0.764
18	44435402	C	A	18	46855439	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.74826564314647E-5	0.004
18	44435402	C	G	18	46855439	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.95421365570609E-5	0.054
18	44435402	C	T	18	46855439	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.29955368490727E-5	0.002
18	44435403	A	C	18	46855440	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999934267860543	0.966
18	44435403	A	G	18	46855440	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00704140375930513	0.06
18	44435403	A	T	18	46855440	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999741267508826	0.88
18	44435404	T	A	18	46855441	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.15948025062715E-4	0.022
18	44435404	T	C	18	46855441	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.983147986296093	0.942
18	44435404	T	G	18	46855441	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.61029251296314E-5	0.004
18	44435405	T	A	18	46855442	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.8111047540313E-4	0.002
18	44435405	T	C	18	46855442	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.27278959476933E-4	0.01
18	44435405	T	G	18	46855442	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.25670638955025E-4	0.0
18	44435406	A	C	18	46855443	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00143041312626073	0.186
18	44435406	A	G	18	46855443	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.54879105909392E-5	0.01
18	44435406	A	T	18	46855443	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00539355643722723	0.202
18	44435407	A	C	18	46855444	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999989860455071	0.966
18	44435407	A	G	18	46855444	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0385088662760157	0.342
18	44435407	A	T	18	46855444	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996716265587556	0.84
18	44435408	T	A	18	46855445	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.34399944931869E-5	0.018
18	44435408	T	C	18	46855445	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.55346936958195E-5	0.016
18	44435408	T	G	18	46855445	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.14818988266566E-5	0.002
18	44435409	A	C	18	46855446	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.988699852640619	0.662
18	44435409	A	G	18	46855446	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00103965343834396	0.132
18	44435409	A	T	18	46855446	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.989786731970374	0.752
18	44435410	A	C	18	46855447	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.277195281078742	0.406
18	44435410	A	G	18	46855447	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.05221698699452E-5	0.02
18	44435410	A	T	18	46855447	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.880526055692039	0.534
18	44435520	A	C	18	46855557	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.32125269285996E-4	0.004
18	44435520	A	G	18	46855557	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.57991583187971E-4	0.006
18	44435520	A	T	18	46855557	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.9096691494675E-4	0.002
18	44435521	A	C	18	46855558	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.42826842593315E-4	0.004
18	44435521	A	G	18	46855558	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.42826842593315E-4	0.0
18	44435521	A	T	18	46855558	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.69444118851748E-4	0.0
18	44435522	A	C	18	46855559	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.655510160743467	0.482
18	44435522	A	G	18	46855559	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.293620708469563	0.458
18	44435522	A	T	18	46855559	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.959541144522012	0.746
18	44435523	C	A	18	46855560	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997185177020857	0.786
18	44435523	C	G	18	46855560	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99192558869338	0.768
18	44435523	C	T	18	46855560	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997250138555711	0.82
18	44435524	T	A	18	46855561	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.995092641178387	0.826
18	44435524	T	C	18	46855561	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996729236249624	0.816
18	44435524	T	G	18	46855561	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.981192583652379	0.676
18	44435525	C	A	18	46855562	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0764179893578419	0.352
18	44435525	C	G	18	46855562	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.105383389441553	0.456
18	44435525	C	T	18	46855562	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.5616296829021E-5	0.0
18	44435526	A	C	18	46855563	y	y	splicing	PIAS2(NM_004671:exon5:c.635+2T>G;NM_173206:exon5:c.635+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.635+2T>G;ENST00000398654:exon4:c.550+2T>G;ENST00000324794:exon5:c.635+2T>G)	.	.	0.9999915596768	0.83
18	44435526	A	G	18	46855563	y	y	splicing	PIAS2(NM_004671:exon5:c.635+2T>C;NM_173206:exon5:c.635+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.635+2T>C;ENST00000398654:exon4:c.550+2T>C;ENST00000324794:exon5:c.635+2T>C)	.	.	0.999874085241026	0.798
18	44435526	A	T	18	46855563	y	y	splicing	PIAS2(NM_004671:exon5:c.635+2T>A;NM_173206:exon5:c.635+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.635+2T>A;ENST00000398654:exon4:c.550+2T>A;ENST00000324794:exon5:c.635+2T>A)	.	.	0.9999915596768	0.828
18	44435527	C	A	18	46855564	y	y	splicing	PIAS2(NM_004671:exon5:c.635+1G>T;NM_173206:exon5:c.635+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.635+1G>T;ENST00000398654:exon4:c.550+1G>T;ENST00000324794:exon5:c.635+1G>T)	.	.	0.999986675681007	0.936
18	44435527	C	G	18	46855564	y	y	splicing	PIAS2(NM_004671:exon5:c.635+1G>C;NM_173206:exon5:c.635+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.635+1G>C;ENST00000398654:exon4:c.550+1G>C;ENST00000324794:exon5:c.635+1G>C)	.	.	0.999986675681007	0.936
18	44435527	C	T	18	46855564	y	y	splicing	PIAS2(NM_004671:exon5:c.635+1G>A;NM_173206:exon5:c.635+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.635+1G>A;ENST00000398654:exon4:c.550+1G>A;ENST00000324794:exon5:c.635+1G>A)	.	.	0.999986675681007	0.936
18	44435528	C	A	18	46855565	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G635T:p.R212I;PIAS2:NM_004671:exon4:c.G635T:p.R212I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G635T:p.R212I;ENSG00000078043:ENST00000585916:exon4:c.G635T:p.R212I;	0.999701952540315	0.996
18	44435528	C	G	18	46855565	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G635C:p.R212T;PIAS2:NM_004671:exon4:c.G635C:p.R212T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G635C:p.R212T;ENSG00000078043:ENST00000585916:exon4:c.G635C:p.R212T;	0.999897590360806	0.986
18	44435528	C	T	18	46855565	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G635A:p.R212K;PIAS2:NM_004671:exon4:c.G635A:p.R212K;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G635A:p.R212K;ENSG00000078043:ENST00000585916:exon4:c.G635A:p.R212K;	0.999915534310568	0.984
18	44435529	T	A	18	46855566	y	y	exonic	PIAS2	stopgain SNV	PIAS2:NM_173206:exon4:c.A634T:p.R212X;PIAS2:NM_004671:exon4:c.A634T:p.R212X;	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000324794:exon4:c.A634T:p.R212X;ENSG00000078043:ENST00000585916:exon4:c.A634T:p.R212X;	0.971326403524439	0.62
18	44435529	T	C	18	46855566	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.A634G:p.R212G;PIAS2:NM_004671:exon4:c.A634G:p.R212G;	exonic	ENSG00000078043	stoploss SNV	ENSG00000078043:ENST00000398654:exon3:c.A549G:p.X183W;	0.903628085204773	0.56
18	44435529	T	G	18	46855566	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon4:c.A634C:p.R212R;PIAS2:NM_004671:exon4:c.A634C:p.R212R;	exonic	ENSG00000078043	stoploss SNV	ENSG00000078043:ENST00000398654:exon3:c.A549C:p.X183C;	0.0668750879867266	0.552
18	44435530	C	A	18	46855567	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G633T:p.L211F;PIAS2:NM_004671:exon4:c.G633T:p.L211F;	exonic	ENSG00000078043	stoploss SNV	ENSG00000078043:ENST00000398654:exon3:c.G548T:p.X183L;	0.0499063574666083	0.212
18	44435530	C	G	18	46855567	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G633C:p.L211F;PIAS2:NM_004671:exon4:c.G633C:p.L211F;	exonic	ENSG00000078043	stoploss SNV	ENSG00000078043:ENST00000398654:exon3:c.G548C:p.X183S;	0.0014013234865644	0.118
18	44435530	C	T	18	46855567	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon4:c.G633A:p.L211L;PIAS2:NM_004671:exon4:c.G633A:p.L211L;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G633A:p.L211L;ENSG00000078043:ENST00000585916:exon4:c.G633A:p.L211L;ENSG00000078043:ENST00000398654:exon3:c.G548A:p.X183X;	2.85754475132664E-4	0.01
18	44435577	C	A	18	46855614	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G586T:p.D196Y;PIAS2:NM_004671:exon4:c.G586T:p.D196Y;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G586T:p.D196Y;ENSG00000078043:ENST00000585916:exon4:c.G586T:p.D196Y;	0.0130797582521374	0.224
18	44435577	C	G	18	46855614	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G586C:p.D196H;PIAS2:NM_004671:exon4:c.G586C:p.D196H;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G586C:p.D196H;ENSG00000078043:ENST00000585916:exon4:c.G586C:p.D196H;	0.0833259820636377	0.354
18	44435577	C	T	18	46855614	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G586A:p.D196N;PIAS2:NM_004671:exon4:c.G586A:p.D196N;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G586A:p.D196N;ENSG00000078043:ENST00000585916:exon4:c.G586A:p.D196N;	0.0317909119011682	0.292
18	44435578	C	A	18	46855615	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G585T:p.R195S;PIAS2:NM_004671:exon4:c.G585T:p.R195S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G585T:p.R195S;ENSG00000078043:ENST00000585916:exon4:c.G585T:p.R195S;ENSG00000078043:ENST00000398654:exon3:c.G500T:p.G167V;	0.957488331058149	0.616
18	44435578	C	G	18	46855615	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon4:c.G585C:p.R195S;PIAS2:NM_004671:exon4:c.G585C:p.R195S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon4:c.G585C:p.R195S;ENSG00000078043:ENST00000585916:exon4:c.G585C:p.R195S;ENSG00000078043:ENST00000398654:exon3:c.G500C:p.G167A;	0.379902058463746	0.504
18	44435578	C	T	18	46855615	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon4:c.G585A:p.R195R;PIAS2:NM_004671:exon4:c.G585A:p.R195R;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000398654:exon3:c.G500A:p.G167E;	0.00314828353577278	0.138
18	44435579	C	A	18	46855616	y	y	splicing	PIAS2(NM_004671:exon5:c.585-1G>T;NM_173206:exon5:c.585-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.585-1G>T;ENST00000398654:exon4:c.500-1G>T;ENST00000324794:exon5:c.585-1G>T)	.	.	0.999986675681007	0.936
18	44435579	C	G	18	46855616	y	y	splicing	PIAS2(NM_004671:exon5:c.585-1G>C;NM_173206:exon5:c.585-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.585-1G>C;ENST00000398654:exon4:c.500-1G>C;ENST00000324794:exon5:c.585-1G>C)	.	.	0.999986675681007	0.936
18	44435579	C	T	18	46855616	y	y	splicing	PIAS2(NM_004671:exon5:c.585-1G>A;NM_173206:exon5:c.585-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.585-1G>A;ENST00000398654:exon4:c.500-1G>A;ENST00000324794:exon5:c.585-1G>A)	.	.	0.999986675681007	0.936
18	44435580	T	A	18	46855617	y	y	splicing	PIAS2(NM_004671:exon5:c.585-2A>T;NM_173206:exon5:c.585-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.585-2A>T;ENST00000398654:exon4:c.500-2A>T;ENST00000324794:exon5:c.585-2A>T)	.	.	0.999989917668626	0.928
18	44435580	T	C	18	46855617	y	y	splicing	PIAS2(NM_004671:exon5:c.585-2A>G;NM_173206:exon5:c.585-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.585-2A>G;ENST00000398654:exon4:c.500-2A>G;ENST00000324794:exon5:c.585-2A>G)	.	.	0.999989917668626	0.928
18	44435580	T	G	18	46855617	y	y	splicing	PIAS2(NM_004671:exon5:c.585-2A>C;NM_173206:exon5:c.585-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon5:c.585-2A>C;ENST00000398654:exon4:c.500-2A>C;ENST00000324794:exon5:c.585-2A>C)	.	.	0.999989917668626	0.928
18	44435581	G	A	18	46855618	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.83554479721502E-4	0.034
18	44435581	G	C	18	46855618	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999647258073215	0.928
18	44435581	G	T	18	46855618	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.477129584093414	0.474
18	44435582	T	A	18	46855619	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00158353512511944	0.032
18	44435582	T	C	18	46855619	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.592970149843086	0.556
18	44435582	T	G	18	46855619	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.32849798152168E-4	0.002
18	44435583	T	A	18	46855620	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.65331560656229E-5	0.0
18	44435583	T	C	18	46855620	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.91490413470905E-5	0.012
18	44435583	T	G	18	46855620	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.35186789954057E-5	0.0
18	44435584	G	A	18	46855621	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.48765168389874E-5	0.0
18	44435584	G	C	18	46855621	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.96655445269987E-4	0.062
18	44435584	G	T	18	46855621	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.56696453648131E-4	0.04
18	44435585	G	A	18	46855622	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.73963077783307E-5	0.002
18	44435585	G	C	18	46855622	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.46018034242079E-4	0.028
18	44435585	G	T	18	46855622	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.46018034242079E-4	0.036
18	44435586	A	C	18	46855623	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.75245021888271E-4	0.052
18	44435586	A	G	18	46855623	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.36720318459131E-5	0.0
18	44435586	A	T	18	46855623	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00118570535754717	0.076
18	44435587	A	C	18	46855624	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00433101759825502	0.06
18	44435587	A	G	18	46855624	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.34187898040424E-4	0.008
18	44435587	A	T	18	46855624	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00539710568169038	0.054
18	44435588	A	C	18	46855625	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.092143179236678	0.3
18	44435588	A	G	18	46855625	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00182515543137535	0.066
18	44435588	A	T	18	46855625	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.202340404552307	0.402
18	44435589	G	A	18	46855626	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.26233155966305E-5	0.016
18	44435589	G	C	18	46855626	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.28024636439218E-4	0.022
18	44435589	G	T	18	46855626	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0018097221209768	0.042
18	44435590	A	C	18	46855627	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00682024137263348	0.166
18	44435590	A	G	18	46855627	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.74950442453732E-4	0.018
18	44435590	A	T	18	46855627	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00671697854392876	0.2
18	44444119	C	A	18	46864156	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00236544145345248	0.016
18	44444119	C	G	18	46864156	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00153002069448106	0.01
18	44444119	C	T	18	46864156	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00304596055568085	0.012
18	44444120	C	A	18	46864157	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00163768771525088	0.012
18	44444120	C	G	18	46864157	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00153002069448106	0.016
18	44444120	C	T	18	46864157	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00260710740207356	0.022
18	44444121	T	A	18	46864158	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.17204767125764E-5	0.054
18	44444121	T	C	18	46864158	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.82958371125936E-5	0.012
18	44444121	T	G	18	46864158	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.8880087953305E-5	0.032
18	44444122	C	A	18	46864159	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.986598365353158	0.592
18	44444122	C	G	18	46864159	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.976432427621332	0.668
18	44444122	C	T	18	46864159	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.994192914442582	0.664
18	44444123	T	A	18	46864160	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.595293022928799	0.332
18	44444123	T	C	18	46864160	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.718244948611136	0.422
18	44444123	T	G	18	46864160	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.420512286695213	0.344
18	44444124	T	A	18	46864161	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.966709530884243	0.632
18	44444124	T	C	18	46864161	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00720178989044005	0.064
18	44444124	T	G	18	46864161	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.98793039094074	0.782
18	44444125	A	C	18	46864162	y	y	splicing	PIAS2(NM_004671:exon4:c.584+2T>G;NM_173206:exon4:c.584+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.584+2T>G;ENST00000324794:exon4:c.584+2T>G)	.	.	0.999993519952936	0.93
18	44444125	A	G	18	46864162	y	y	splicing	PIAS2(NM_004671:exon4:c.584+2T>C;NM_173206:exon4:c.584+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.584+2T>C;ENST00000324794:exon4:c.584+2T>C)	.	.	0.993596150545159	0.582
18	44444125	A	T	18	46864162	y	y	splicing	PIAS2(NM_004671:exon4:c.584+2T>A;NM_173206:exon4:c.584+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.584+2T>A;ENST00000324794:exon4:c.584+2T>A)	.	.	0.999993519952936	0.93
18	44444126	C	A	18	46864163	y	y	splicing	PIAS2(NM_004671:exon4:c.584+1G>T;NM_173206:exon4:c.584+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.584+1G>T;ENST00000324794:exon4:c.584+1G>T)	.	.	0.999992446697775	0.938
18	44444126	C	G	18	46864163	y	y	splicing	PIAS2(NM_004671:exon4:c.584+1G>C;NM_173206:exon4:c.584+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.584+1G>C;ENST00000324794:exon4:c.584+1G>C)	.	.	0.999992446697775	0.938
18	44444126	C	T	18	46864163	y	y	splicing	PIAS2(NM_004671:exon4:c.584+1G>A;NM_173206:exon4:c.584+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.584+1G>A;ENST00000324794:exon4:c.584+1G>A)	.	.	0.999992446697775	0.938
18	44444127	C	A	18	46864164	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon3:c.G584T:p.R195M;PIAS2:NM_004671:exon3:c.G584T:p.R195M;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.G584T:p.R195M;ENSG00000078043:ENST00000585916:exon3:c.G584T:p.R195M;	0.999566028286693	0.96
18	44444127	C	G	18	46864164	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon3:c.G584C:p.R195T;PIAS2:NM_004671:exon3:c.G584C:p.R195T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.G584C:p.R195T;ENSG00000078043:ENST00000585916:exon3:c.G584C:p.R195T;	0.999909582465303	0.968
18	44444127	C	T	18	46864164	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon3:c.G584A:p.R195K;PIAS2:NM_004671:exon3:c.G584A:p.R195K;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.G584A:p.R195K;ENSG00000078043:ENST00000585916:exon3:c.G584A:p.R195K;	0.999851470348307	0.978
18	44444128	T	A	18	46864165	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon3:c.A583T:p.R195W;PIAS2:NM_004671:exon3:c.A583T:p.R195W;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.A583T:p.R195W;ENSG00000078043:ENST00000585916:exon3:c.A583T:p.R195W;	0.99554252791139	0.564
18	44444128	T	C	18	46864165	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon3:c.A583G:p.R195G;PIAS2:NM_004671:exon3:c.A583G:p.R195G;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.A583G:p.R195G;ENSG00000078043:ENST00000585916:exon3:c.A583G:p.R195G;	0.997244656940441	0.95
18	44444128	T	G	18	46864165	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon3:c.A583C:p.R195R;PIAS2:NM_004671:exon3:c.A583C:p.R195R;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.A583C:p.R195R;ENSG00000078043:ENST00000585916:exon3:c.A583C:p.R195R;	0.945230953281301	0.724
18	44444129	G	A	18	46864166	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon3:c.C582T:p.S194S;PIAS2:NM_004671:exon3:c.C582T:p.S194S;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.C582T:p.S194S;ENSG00000078043:ENST00000585916:exon3:c.C582T:p.S194S;	0.0068600459134917	0.096
18	44444129	G	C	18	46864166	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon3:c.C582G:p.S194S;PIAS2:NM_004671:exon3:c.C582G:p.S194S;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.C582G:p.S194S;ENSG00000078043:ENST00000585916:exon3:c.C582G:p.S194S;	0.00230609857291496	0.044
18	44444129	G	T	18	46864166	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon3:c.C582A:p.S194S;PIAS2:NM_004671:exon3:c.C582A:p.S194S;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.C582A:p.S194S;ENSG00000078043:ENST00000585916:exon3:c.C582A:p.S194S;	0.00381148984385813	0.034
18	44444210	A	C	18	46864247	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon3:c.T501G:p.V167V;PIAS2:NM_004671:exon3:c.T501G:p.V167V;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.T501G:p.V167V;ENSG00000078043:ENST00000585916:exon3:c.T501G:p.V167V;	5.18455399811798E-4	0.016
18	44444210	A	G	18	46864247	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon3:c.T501C:p.V167V;PIAS2:NM_004671:exon3:c.T501C:p.V167V;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.T501C:p.V167V;ENSG00000078043:ENST00000585916:exon3:c.T501C:p.V167V;	0.00165547197859865	0.048
18	44444210	A	T	18	46864247	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon3:c.T501A:p.V167V;PIAS2:NM_004671:exon3:c.T501A:p.V167V;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.T501A:p.V167V;ENSG00000078043:ENST00000585916:exon3:c.T501A:p.V167V;	0.00266799929088652	0.014
18	44444211	A	C	18	46864248	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon3:c.T500G:p.V167G;PIAS2:NM_004671:exon3:c.T500G:p.V167G;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.T500G:p.V167G;ENSG00000078043:ENST00000585916:exon3:c.T500G:p.V167G;	0.0142575447097253	0.136
18	44444211	A	G	18	46864248	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon3:c.T500C:p.V167A;PIAS2:NM_004671:exon3:c.T500C:p.V167A;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.T500C:p.V167A;ENSG00000078043:ENST00000585916:exon3:c.T500C:p.V167A;	0.00173471118042692	0.02
18	44444211	A	T	18	46864248	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon3:c.T500A:p.V167D;PIAS2:NM_004671:exon3:c.T500A:p.V167D;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon3:c.T500A:p.V167D;ENSG00000078043:ENST00000585916:exon3:c.T500A:p.V167D;	0.409456939281697	0.49
18	44444212	C	A	18	46864249	y	y	splicing	PIAS2(NM_004671:exon4:c.500-1G>T;NM_173206:exon4:c.500-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.500-1G>T;ENST00000324794:exon4:c.500-1G>T)	.	.	0.999992446697775	0.93
18	44444212	C	G	18	46864249	y	y	splicing	PIAS2(NM_004671:exon4:c.500-1G>C;NM_173206:exon4:c.500-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.500-1G>C;ENST00000324794:exon4:c.500-1G>C)	.	.	0.999992446697775	0.93
18	44444212	C	T	18	46864249	y	y	splicing	PIAS2(NM_004671:exon4:c.500-1G>A;NM_173206:exon4:c.500-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.500-1G>A;ENST00000324794:exon4:c.500-1G>A)	.	.	0.999992446697775	0.93
18	44444213	T	A	18	46864250	y	y	splicing	PIAS2(NM_004671:exon4:c.500-2A>T;NM_173206:exon4:c.500-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.500-2A>T;ENST00000324794:exon4:c.500-2A>T)	.	.	0.999993519952936	0.93
18	44444213	T	C	18	46864250	y	y	splicing	PIAS2(NM_004671:exon4:c.500-2A>G;NM_173206:exon4:c.500-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.500-2A>G;ENST00000324794:exon4:c.500-2A>G)	.	.	0.999993519952936	0.93
18	44444213	T	G	18	46864250	y	y	splicing	PIAS2(NM_004671:exon4:c.500-2A>C;NM_173206:exon4:c.500-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon4:c.500-2A>C;ENST00000324794:exon4:c.500-2A>C)	.	.	0.999993519952936	0.93
18	44444214	G	A	18	46864251	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0230403868641076	0.284
18	44444214	G	C	18	46864251	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999780671286489	0.862
18	44444214	G	T	18	46864251	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.493250021638328	0.548
18	44444215	G	A	18	46864252	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.95509240633997E-4	0.01
18	44444215	G	C	18	46864252	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.95509240633997E-4	0.012
18	44444215	G	T	18	46864252	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.95509240633997E-4	0.01
18	44444216	G	A	18	46864253	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.15365579570287E-4	0.006
18	44444216	G	C	18	46864253	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00120923593236774	0.048
18	44444216	G	T	18	46864253	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00451628560169316	0.042
18	44444217	A	C	18	46864254	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00129007094155475	0.068
18	44444217	A	G	18	46864254	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.45549471374099E-4	0.012
18	44444217	A	T	18	46864254	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.66680525450761E-4	0.05
18	44444218	A	C	18	46864255	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.2614079655812E-4	0.06
18	44444218	A	G	18	46864255	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.28735874087589E-5	0.012
18	44444218	A	T	18	46864255	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.2249648618685E-4	0.118
18	44444219	G	A	18	46864256	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.64721492946204E-4	0.008
18	44444219	G	C	18	46864256	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.48322660952252E-4	0.066
18	44444219	G	T	18	46864256	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.79386914435483E-4	0.072
18	44444220	A	C	18	46864257	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.22764517863523E-4	0.05
18	44444220	A	G	18	46864257	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.27574193744309E-4	0.012
18	44444220	A	T	18	46864257	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.39324020948383E-4	0.048
18	44444221	A	C	18	46864258	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.10556637897799E-4	0.042
18	44444221	A	G	18	46864258	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.37023275819513E-4	0.01
18	44444221	A	T	18	46864258	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.76952621353765E-4	0.042
18	44444222	A	C	18	46864259	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.71170923951292E-4	0.068
18	44444222	A	G	18	46864259	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.71672190271029E-4	0.014
18	44444222	A	T	18	46864259	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.38708004653622E-4	0.088
18	44444223	A	C	18	46864260	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.34854856706085E-4	0.066
18	44444223	A	G	18	46864260	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.48211940311259E-4	0.034
18	44444223	A	T	18	46864260	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.24319001431882E-5	0.05
18	44470535	A	C	18	46890572	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.99196838039782E-5	0.0
18	44470535	A	G	18	46890572	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.69439264402225E-5	0.0
18	44470535	A	T	18	46890572	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.99196838039782E-5	0.0
18	44470536	C	A	18	46890573	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.00568306432685E-4	0.116
18	44470536	C	G	18	46890573	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.74376599789136E-4	0.09
18	44470536	C	T	18	46890573	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.74376599789136E-4	0.068
18	44470537	A	C	18	46890574	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.9142065873847E-4	0.142
18	44470537	A	G	18	46890574	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00429157063608894	0.18
18	44470537	A	T	18	46890574	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00297496122557505	0.168
18	44470538	C	A	18	46890575	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.981834206609975	0.572
18	44470538	C	G	18	46890575	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99059249741888	0.642
18	44470538	C	T	18	46890575	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.979688318364713	0.646
18	44470539	T	A	18	46890576	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.248457928573221	0.422
18	44470539	T	C	18	46890576	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.569922531024925	0.43
18	44470539	T	G	18	46890576	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.222842280635686	0.416
18	44470540	T	A	18	46890577	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.625654417692054	0.524
18	44470540	T	C	18	46890577	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.18702442476358E-4	0.002
18	44470540	T	G	18	46890577	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.446987365512673	0.51
18	44470541	A	C	18	46890578	y	y	splicing	PIAS2(NM_004671:exon3:c.499+2T>G;NM_173206:exon3:c.499+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.499+2T>G;ENST00000398654:exon3:c.499+2T>G;ENST00000324794:exon3:c.499+2T>G)	.	.	0.99994568797423	0.948
18	44470541	A	G	18	46890578	y	y	splicing	PIAS2(NM_004671:exon3:c.499+2T>C;NM_173206:exon3:c.499+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.499+2T>C;ENST00000398654:exon3:c.499+2T>C;ENST00000324794:exon3:c.499+2T>C)	.	.	0.973509269386723	0.734
18	44470541	A	T	18	46890578	y	y	splicing	PIAS2(NM_004671:exon3:c.499+2T>A;NM_173206:exon3:c.499+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.499+2T>A;ENST00000398654:exon3:c.499+2T>A;ENST00000324794:exon3:c.499+2T>A)	.	.	0.99994568797423	0.944
18	44470542	C	A	18	46890579	y	y	splicing	PIAS2(NM_004671:exon3:c.499+1G>T;NM_173206:exon3:c.499+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.499+1G>T;ENST00000398654:exon3:c.499+1G>T;ENST00000324794:exon3:c.499+1G>T)	.	.	0.999980827023085	0.934
18	44470542	C	G	18	46890579	y	y	splicing	PIAS2(NM_004671:exon3:c.499+1G>C;NM_173206:exon3:c.499+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.499+1G>C;ENST00000398654:exon3:c.499+1G>C;ENST00000324794:exon3:c.499+1G>C)	.	.	0.999980827023085	0.932
18	44470542	C	T	18	46890579	y	y	splicing	PIAS2(NM_004671:exon3:c.499+1G>A;NM_173206:exon3:c.499+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.499+1G>A;ENST00000398654:exon3:c.499+1G>A;ENST00000324794:exon3:c.499+1G>A)	.	.	0.999980827023085	0.936
18	44470543	C	A	18	46890580	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.G499T:p.V167F;PIAS2:NM_004671:exon2:c.G499T:p.V167F;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.G499T:p.V167F;ENSG00000078043:ENST00000585916:exon2:c.G499T:p.V167F;ENSG00000078043:ENST00000398654:exon2:c.G499T:p.G167W;	0.999773283921132	0.922
18	44470543	C	G	18	46890580	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.G499C:p.V167L;PIAS2:NM_004671:exon2:c.G499C:p.V167L;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.G499C:p.V167L;ENSG00000078043:ENST00000585916:exon2:c.G499C:p.V167L;ENSG00000078043:ENST00000398654:exon2:c.G499C:p.G167R;	0.999005273229832	0.908
18	44470543	C	T	18	46890580	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.G499A:p.V167I;PIAS2:NM_004671:exon2:c.G499A:p.V167I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.G499A:p.V167I;ENSG00000078043:ENST00000585916:exon2:c.G499A:p.V167I;ENSG00000078043:ENST00000398654:exon2:c.G499A:p.G167R;	0.999286860388952	0.806
18	44470544	T	A	18	46890581	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.A498T:p.L166F;PIAS2:NM_004671:exon2:c.A498T:p.L166F;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A498T:p.L166F;ENSG00000078043:ENST00000585916:exon2:c.A498T:p.L166F;ENSG00000078043:ENST00000398654:exon2:c.A498T:p.L166F;	0.980947115845619	0.624
18	44470544	T	C	18	46890581	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon2:c.A498G:p.L166L;PIAS2:NM_004671:exon2:c.A498G:p.L166L;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A498G:p.L166L;ENSG00000078043:ENST00000585916:exon2:c.A498G:p.L166L;ENSG00000078043:ENST00000398654:exon2:c.A498G:p.L166L;	0.111092818806874	0.33
18	44470544	T	G	18	46890581	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.A498C:p.L166F;PIAS2:NM_004671:exon2:c.A498C:p.L166F;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A498C:p.L166F;ENSG00000078043:ENST00000585916:exon2:c.A498C:p.L166F;ENSG00000078043:ENST00000398654:exon2:c.A498C:p.L166F;	0.964165553043078	0.804
18	44470545	A	C	18	46890582	y	y	exonic	PIAS2	stopgain SNV	PIAS2:NM_173206:exon2:c.T497G:p.L166X;PIAS2:NM_004671:exon2:c.T497G:p.L166X;	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000324794:exon2:c.T497G:p.L166X;ENSG00000078043:ENST00000585916:exon2:c.T497G:p.L166X;ENSG00000078043:ENST00000398654:exon2:c.T497G:p.L166X;	0.882691247852478	0.816
18	44470545	A	G	18	46890582	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.T497C:p.L166S;PIAS2:NM_004671:exon2:c.T497C:p.L166S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.T497C:p.L166S;ENSG00000078043:ENST00000585916:exon2:c.T497C:p.L166S;ENSG00000078043:ENST00000398654:exon2:c.T497C:p.L166S;	0.652656369967121	0.678
18	44470545	A	T	18	46890582	y	y	exonic	PIAS2	stopgain SNV	PIAS2:NM_173206:exon2:c.T497A:p.L166X;PIAS2:NM_004671:exon2:c.T497A:p.L166X;	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000324794:exon2:c.T497A:p.L166X;ENSG00000078043:ENST00000585916:exon2:c.T497A:p.L166X;ENSG00000078043:ENST00000398654:exon2:c.T497A:p.L166X;	0.74702229933833	0.786
18	44471016	T	A	18	46891053	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.A26T:p.N9I;PIAS2:NM_004671:exon2:c.A26T:p.N9I;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A26T:p.N9I;ENSG00000078043:ENST00000587810:exon4:c.A128T:p.N43I;ENSG00000078043:ENST00000585916:exon2:c.A26T:p.N9I;ENSG00000078043:ENST00000398654:exon2:c.A26T:p.N9I;ENSG00000078043:ENST00000592221:exon5:c.A110T:p.N37I;ENSG00000078043:ENST00000586953:exon2:c.A20T:p.N7I;	0.868666599350842	0.828
18	44471016	T	C	18	46891053	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.A26G:p.N9S;PIAS2:NM_004671:exon2:c.A26G:p.N9S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A26G:p.N9S;ENSG00000078043:ENST00000587810:exon4:c.A128G:p.N43S;ENSG00000078043:ENST00000585916:exon2:c.A26G:p.N9S;ENSG00000078043:ENST00000398654:exon2:c.A26G:p.N9S;ENSG00000078043:ENST00000592221:exon5:c.A110G:p.N37S;ENSG00000078043:ENST00000586953:exon2:c.A20G:p.N7S;	0.905226106847406	0.546
18	44471016	T	G	18	46891053	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.A26C:p.N9T;PIAS2:NM_004671:exon2:c.A26C:p.N9T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A26C:p.N9T;ENSG00000078043:ENST00000587810:exon4:c.A128C:p.N43T;ENSG00000078043:ENST00000585916:exon2:c.A26C:p.N9T;ENSG00000078043:ENST00000398654:exon2:c.A26C:p.N9T;ENSG00000078043:ENST00000592221:exon5:c.A110C:p.N37T;ENSG00000078043:ENST00000586953:exon2:c.A20C:p.N7T;	0.918741146805298	0.868
18	44471017	T	A	18	46891054	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.A25T:p.N9Y;PIAS2:NM_004671:exon2:c.A25T:p.N9Y;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A25T:p.N9Y;ENSG00000078043:ENST00000587810:exon4:c.A127T:p.N43Y;ENSG00000078043:ENST00000585916:exon2:c.A25T:p.N9Y;ENSG00000078043:ENST00000398654:exon2:c.A25T:p.N9Y;ENSG00000078043:ENST00000592221:exon5:c.A109T:p.N37Y;ENSG00000078043:ENST00000586953:exon2:c.A19T:p.N7Y;	0.627824216129723	0.626
18	44471017	T	C	18	46891054	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.A25G:p.N9D;PIAS2:NM_004671:exon2:c.A25G:p.N9D;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A25G:p.N9D;ENSG00000078043:ENST00000587810:exon4:c.A127G:p.N43D;ENSG00000078043:ENST00000585916:exon2:c.A25G:p.N9D;ENSG00000078043:ENST00000398654:exon2:c.A25G:p.N9D;ENSG00000078043:ENST00000592221:exon5:c.A109G:p.N37D;ENSG00000078043:ENST00000586953:exon2:c.A19G:p.N7D;	0.703450439640724	0.744
18	44471017	T	G	18	46891054	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon2:c.A25C:p.N9H;PIAS2:NM_004671:exon2:c.A25C:p.N9H;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon2:c.A25C:p.N9H;ENSG00000078043:ENST00000587810:exon4:c.A127C:p.N43H;ENSG00000078043:ENST00000585916:exon2:c.A25C:p.N9H;ENSG00000078043:ENST00000398654:exon2:c.A25C:p.N9H;ENSG00000078043:ENST00000592221:exon5:c.A109C:p.N37H;ENSG00000078043:ENST00000586953:exon2:c.A19C:p.N7H;	0.0316644061487091	0.196
18	44471018	C	A	18	46891055	y	y	splicing	PIAS2(NM_004671:exon3:c.25-1G>T;NM_173206:exon3:c.25-1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.25-1G>T;ENST00000398654:exon3:c.25-1G>T;ENST00000324794:exon3:c.25-1G>T;ENST00000586953:exon3:c.19-1G>T;ENST00000587810:exon5:c.127-1G>T;ENST00000592221:exon6:c.109-1G>T)	.	.	0.999990361384395	0.938
18	44471018	C	G	18	46891055	y	y	splicing	PIAS2(NM_004671:exon3:c.25-1G>C;NM_173206:exon3:c.25-1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.25-1G>C;ENST00000398654:exon3:c.25-1G>C;ENST00000324794:exon3:c.25-1G>C;ENST00000586953:exon3:c.19-1G>C;ENST00000587810:exon5:c.127-1G>C;ENST00000592221:exon6:c.109-1G>C)	.	.	0.999990361384395	0.938
18	44471018	C	T	18	46891055	y	y	splicing	PIAS2(NM_004671:exon3:c.25-1G>A;NM_173206:exon3:c.25-1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.25-1G>A;ENST00000398654:exon3:c.25-1G>A;ENST00000324794:exon3:c.25-1G>A;ENST00000586953:exon3:c.19-1G>A;ENST00000587810:exon5:c.127-1G>A;ENST00000592221:exon6:c.109-1G>A)	.	.	0.999990361384395	0.938
18	44471019	T	A	18	46891056	y	y	splicing	PIAS2(NM_004671:exon3:c.25-2A>T;NM_173206:exon3:c.25-2A>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.25-2A>T;ENST00000398654:exon3:c.25-2A>T;ENST00000324794:exon3:c.25-2A>T;ENST00000586953:exon3:c.19-2A>T;ENST00000587810:exon5:c.127-2A>T;ENST00000592221:exon6:c.109-2A>T)	.	.	0.999988247793601	0.93
18	44471019	T	C	18	46891056	y	y	splicing	PIAS2(NM_004671:exon3:c.25-2A>G;NM_173206:exon3:c.25-2A>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.25-2A>G;ENST00000398654:exon3:c.25-2A>G;ENST00000324794:exon3:c.25-2A>G;ENST00000586953:exon3:c.19-2A>G;ENST00000587810:exon5:c.127-2A>G;ENST00000592221:exon6:c.109-2A>G)	.	.	0.999988247793601	0.93
18	44471019	T	G	18	46891056	y	y	splicing	PIAS2(NM_004671:exon3:c.25-2A>C;NM_173206:exon3:c.25-2A>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon3:c.25-2A>C;ENST00000398654:exon3:c.25-2A>C;ENST00000324794:exon3:c.25-2A>C;ENST00000586953:exon3:c.19-2A>C;ENST00000587810:exon5:c.127-2A>C;ENST00000592221:exon6:c.109-2A>C)	.	.	0.999988247793601	0.93
18	44471020	A	C	18	46891057	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.952957415368234	0.692
18	44471020	A	G	18	46891057	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.63517595656136E-4	0.006
18	44471020	A	T	18	46891057	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.114770793434754	0.248
18	44471021	A	C	18	46891058	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.8617612817405E-4	0.022
18	44471021	A	G	18	46891058	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.01539925452094E-4	0.018
18	44471021	A	T	18	46891058	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00126411284657946	0.056
18	44471022	A	C	18	46891059	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0700006402283137	0.442
18	44471022	A	G	18	46891059	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0169578037605339	0.168
18	44471022	A	T	18	46891059	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0529516123053414	0.436
18	44471023	A	C	18	46891060	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00899882032109338	0.214
18	44471023	A	G	18	46891060	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00108571039507716	0.028
18	44471023	A	T	18	46891060	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00318407566360095	0.12
18	44471024	G	A	18	46891061	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.45657684705081E-5	0.0
18	44471024	G	C	18	46891061	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.48010357530144E-4	0.022
18	44471024	G	T	18	46891061	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.52404935163556E-4	0.016
18	44471025	G	A	18	46891062	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.87953176094321E-5	0.002
18	44471025	G	C	18	46891062	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.13518606179772E-4	0.01
18	44471025	G	T	18	46891062	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.15829043813216E-4	0.02
18	44471026	A	C	18	46891063	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.82996220073916E-4	0.124
18	44471026	A	G	18	46891063	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.65507223873221E-4	0.006
18	44471026	A	T	18	46891063	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.79261977912571E-4	0.108
18	44471027	A	C	18	46891064	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.35922365044058E-4	0.14
18	44471027	A	G	18	46891064	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.65507223873221E-4	0.004
18	44471027	A	T	18	46891064	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.94057110935116E-4	0.086
18	44471028	A	C	18	46891065	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.44911974028373E-4	0.046
18	44471028	A	G	18	46891065	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	4.35248099003991E-5	0.004
18	44471028	A	T	18	46891065	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.06469068014554E-4	0.046
18	44471029	G	A	18	46891066	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.92438163486777E-6	0.0
18	44471029	G	C	18	46891066	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.68029026623872E-5	0.008
18	44471029	G	T	18	46891066	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.17495690044029E-5	0.004
18	44483482	A	C	18	46903519	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.89244499777297E-4	0.092
18	44483482	A	G	18	46903519	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.89244499777297E-4	0.092
18	44483482	A	T	18	46903519	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.13
18	44483483	T	A	18	46903520	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.13
18	44483483	T	C	18	46903520	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.89244499777297E-4	0.094
18	44483483	T	G	18	46903520	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.89244499777297E-4	0.094
18	44483484	A	C	18	46903521	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.89244499777297E-4	0.096
18	44483484	A	G	18	46903521	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.89244499777297E-4	0.094
18	44483484	A	T	18	46903521	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.13
18	44483485	C	A	18	46903522	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00127375804842959	0.092
18	44483485	C	G	18	46903522	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0015843400481987	0.106
18	44483485	C	T	18	46903522	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00175080785330833	0.09
18	44483486	C	A	18	46903523	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.39936695159557E-5	0.038
18	44483486	C	G	18	46903523	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.11051379666471E-5	0.032
18	44483486	C	T	18	46903523	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.11358230622135E-5	0.046
18	44483487	T	A	18	46903524	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.138
18	44483487	T	C	18	46903524	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.89244499777297E-4	0.096
18	44483487	T	G	18	46903524	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.89244499777297E-4	0.098
18	44483488	A	C	18	46903525	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.126+2T>G;ENST00000592221:exon5:c.108+2T>G)	.	.	2.89244499777297E-4	0.098
18	44483488	A	G	18	46903525	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.126+2T>C;ENST00000592221:exon5:c.108+2T>C)	.	.	2.89244499777297E-4	0.096
18	44483488	A	T	18	46903525	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.126+2T>A;ENST00000592221:exon5:c.108+2T>A)	.	.	3.25670765164204E-4	0.138
18	44483489	C	A	18	46903526	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.126+1G>T;ENST00000592221:exon5:c.108+1G>T)	.	.	0.00127375804842959	0.09
18	44483489	C	G	18	46903526	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.126+1G>C;ENST00000592221:exon5:c.108+1G>C)	.	.	0.0015843400481987	0.108
18	44483489	C	T	18	46903526	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.126+1G>A;ENST00000592221:exon5:c.108+1G>A)	.	.	0.00195426738379715	0.098
18	44483490	C	A	18	46903527	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.G126T:p.L42L;ENSG00000078043:ENST00000592221:exon4:c.G108T:p.L36L;	0.00127375804842959	0.09
18	44483490	C	G	18	46903527	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.G126C:p.L42L;ENSG00000078043:ENST00000592221:exon4:c.G108C:p.L36L;	0.0015843400481987	0.11
18	44483490	C	T	18	46903527	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.G126A:p.L42L;ENSG00000078043:ENST00000592221:exon4:c.G108A:p.L36L;	0.00195426738379715	0.098
18	44483491	A	C	18	46903528	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.T125G:p.L42R;ENSG00000078043:ENST00000592221:exon4:c.T107G:p.L36R;	2.89244499777297E-4	0.098
18	44483491	A	G	18	46903528	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.T125C:p.L42P;ENSG00000078043:ENST00000592221:exon4:c.T107C:p.L36P;	2.89244499777297E-4	0.096
18	44483491	A	T	18	46903528	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.T125A:p.L42Q;ENSG00000078043:ENST00000592221:exon4:c.T107A:p.L36Q;	3.25670765164204E-4	0.146
18	44483492	G	A	18	46903529	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.C124T:p.L42L;ENSG00000078043:ENST00000592221:exon4:c.C106T:p.L36L;	0.00175080785330833	0.09
18	44483492	G	C	18	46903529	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.C124G:p.L42V;ENSG00000078043:ENST00000592221:exon4:c.C106G:p.L36V;	0.0015843400481987	0.11
18	44483492	G	T	18	46903529	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.C124A:p.L42M;ENSG00000078043:ENST00000592221:exon4:c.C106A:p.L36M;	0.00127375804842959	0.092
18	44483595	C	A	18	46903632	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.G21T:p.M7I;ENSG00000078043:ENST00000592221:exon4:c.G3T:p.M1I;	0.00258296627157499	0.116
18	44483595	C	G	18	46903632	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.G21C:p.M7I;ENSG00000078043:ENST00000592221:exon4:c.G3C:p.M1I;	0.00229464110714007	0.104
18	44483595	C	T	18	46903632	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.G21A:p.M7I;ENSG00000078043:ENST00000592221:exon4:c.G3A:p.M1I;	0.00258296627157499	0.154
18	44483596	A	C	18	46903633	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.T20G:p.M7R;ENSG00000078043:ENST00000592221:exon4:c.T2G:p.M1R;	3.25670765164204E-4	0.12
18	44483596	A	G	18	46903633	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.T20C:p.M7T;ENSG00000078043:ENST00000592221:exon4:c.T2C:p.M1T;	3.25670765164204E-4	0.12
18	44483596	A	T	18	46903633	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon3:c.T20A:p.M7K;ENSG00000078043:ENST00000592221:exon4:c.T2A:p.M1K;	3.25670765164204E-4	0.12
18	44483597	C	A	18	46903634	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.20-1G>T;ENST00000592221:exon5:c.2-1G>T)	.	.	0.00258296627157499	0.118
18	44483597	C	G	18	46903634	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.20-1G>C;ENST00000592221:exon5:c.2-1G>C)	.	.	0.00229464110714007	0.104
18	44483597	C	T	18	46903634	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.20-1G>A;ENST00000592221:exon5:c.2-1G>A)	.	.	0.00258296627157499	0.154
18	44483598	T	A	18	46903635	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.20-2A>T;ENST00000592221:exon5:c.2-2A>T)	.	.	3.25670765164204E-4	0.122
18	44483598	T	C	18	46903635	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.20-2A>G;ENST00000592221:exon5:c.2-2A>G)	.	.	3.25670765164204E-4	0.12
18	44483598	T	G	18	46903635	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon4:c.20-2A>C;ENST00000592221:exon5:c.2-2A>C)	.	.	3.25670765164204E-4	0.12
18	44483599	C	A	18	46903636	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00258296627157499	0.116
18	44483599	C	G	18	46903636	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00229464110714007	0.104
18	44483599	C	T	18	46903636	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00258296627157499	0.156
18	44483600	T	A	18	46903637	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.12
18	44483600	T	C	18	46903637	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.12
18	44483600	T	G	18	46903637	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.12
18	44483601	G	A	18	46903638	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00258296627157499	0.144
18	44483601	G	C	18	46903638	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00229464110714007	0.102
18	44483601	G	T	18	46903638	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00258296627157499	0.116
18	44483602	G	A	18	46903639	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00258296627157499	0.14
18	44483602	G	C	18	46903639	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00229464110714007	0.102
18	44483602	G	T	18	46903639	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00258296627157499	0.114
18	44483603	A	C	18	46903640	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.12
18	44483603	A	G	18	46903640	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.122
18	44483603	A	T	18	46903640	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.12
18	44483604	A	C	18	46903641	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.122
18	44483604	A	G	18	46903641	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.124
18	44483604	A	T	18	46903641	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.118
18	44483605	A	C	18	46903642	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.124
18	44483605	A	G	18	46903642	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.14
18	44483605	A	T	18	46903642	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.118
18	44483606	A	C	18	46903643	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.14
18	44483606	A	G	18	46903643	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.14
18	44483606	A	T	18	46903643	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.118
18	44483607	C	A	18	46903644	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00229464110714007	0.106
18	44483607	C	G	18	46903644	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00229464110714007	0.102
18	44483607	C	T	18	46903644	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00258296627157499	0.12
18	44483608	A	C	18	46903645	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.14
18	44483608	A	G	18	46903645	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.156
18	44483608	A	T	18	46903645	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.25670765164204E-4	0.118
18	44484057	A	C	18	46904094	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.99153316237132E-5	0.0
18	44484057	A	G	18	46904094	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.99153316237132E-5	0.0
18	44484057	A	T	18	46904094	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.07620641825897E-5	0.022
18	44484058	A	C	18	46904095	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.008
18	44484058	A	G	18	46904095	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.008
18	44484058	A	T	18	46904095	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.01
18	44484059	C	A	18	46904096	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.32651317629065E-5	0.014
18	44484059	C	G	18	46904096	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.32651317629065E-5	0.014
18	44484059	C	T	18	46904096	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.32651317629065E-5	0.014
18	44484060	A	C	18	46904097	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.008
18	44484060	A	G	18	46904097	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.008
18	44484060	A	T	18	46904097	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.012
18	44484061	A	C	18	46904098	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.008
18	44484061	A	G	18	46904098	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.008
18	44484061	A	T	18	46904098	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.43179510623962E-5	0.014
18	44484062	T	A	18	46904099	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.18905158676629E-5	0.016
18	44484062	T	C	18	46904099	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.008
18	44484062	T	G	18	46904099	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	2.60742385600787E-5	0.008
18	44484063	A	C	18	46904100	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000592221:exon4:c.1+2T>G)	.	.	2.60742385600787E-5	0.008
18	44484063	A	G	18	46904100	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000592221:exon4:c.1+2T>C)	.	.	2.60742385600787E-5	0.008
18	44484063	A	T	18	46904100	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000592221:exon4:c.1+2T>A)	.	.	6.18905158676629E-5	0.016
18	44484064	C	A	18	46904101	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000592221:exon4:c.1+1G>T)	.	.	7.2694790039333E-6	0.002
18	44484064	C	G	18	46904101	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000592221:exon4:c.1+1G>C)	.	.	7.2694790039333E-6	0.0
18	44484064	C	T	18	46904101	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000592221:exon4:c.1+1G>A)	.	.	1.12288223045236E-5	0.0
18	44484065	T	A	18	46904102	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000592221:exon3:c.A1T:p.M1L;	1.76502774581184E-5	0.0
18	44484065	T	C	18	46904102	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000592221:exon3:c.A1G:p.M1V;	1.76502774581184E-5	0.0
18	44484065	T	G	18	46904102	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000592221:exon3:c.A1C:p.M1L;	1.76502774581184E-5	0.0
18	44484066	T	A	18	46904103	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	2.63141535133926E-5	0.0
18	44484066	T	C	18	46904103	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	2.63141535133926E-5	0.0
18	44484066	T	G	18	46904103	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	2.63141535133926E-5	0.0
18	44484067	T	A	18	46904104	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	2.63141535133926E-5	0.0
18	44484067	T	C	18	46904104	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	2.63141535133926E-5	0.0
18	44484067	T	G	18	46904104	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	2.63141535133926E-5	0.0
18	44484168	C	A	18	46904205	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	7.89582339735063E-5	0.024
18	44484168	C	G	18	46904205	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	7.89582339735063E-5	0.02
18	44484168	C	T	18	46904205	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	7.89582339735063E-5	0.1
18	44484169	T	A	18	46904206	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484169	T	C	18	46904206	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	6.16694999061511E-5	0.002
18	44484169	T	G	18	46904206	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	6.16694999061511E-5	0.002
18	44484170	C	A	18	46904207	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	6.46145129905374E-5	0.006
18	44484170	C	G	18	46904207	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	6.46145129905374E-5	0.008
18	44484170	C	T	18	46904207	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	6.46145129905374E-5	0.008
18	44484171	T	A	18	46904208	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484171	T	C	18	46904208	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484171	T	G	18	46904208	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484172	G	A	18	46904209	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.46145129905374E-5	0.01
18	44484172	G	C	18	46904209	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.46145129905374E-5	0.006
18	44484172	G	T	18	46904209	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.46145129905374E-5	0.006
18	44484173	A	C	18	46904210	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.10375415512646E-5	0.0
18	44484173	A	G	18	46904210	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.10375415512646E-5	0.0
18	44484173	A	T	18	46904210	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.10375415512646E-5	0.0
18	44484174	A	C	18	46904211	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.002
18	44484174	A	G	18	46904211	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.002
18	44484174	A	T	18	46904211	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.002
18	44484175	A	C	18	46904212	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484175	A	G	18	46904212	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484175	A	T	18	46904212	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.1208494560103E-4	0.0
18	44484176	A	C	18	46904213	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484176	A	G	18	46904213	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484176	A	T	18	46904213	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484177	A	C	18	46904214	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484177	A	G	18	46904214	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484177	A	T	18	46904214	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.16694999061511E-5	0.0
18	44484178	A	C	18	46904215	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484178	A	G	18	46904215	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484178	A	T	18	46904215	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484179	A	C	18	46904216	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484179	A	G	18	46904216	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484179	A	T	18	46904216	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484180	A	C	18	46904217	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484180	A	G	18	46904217	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484180	A	T	18	46904217	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.41208634289763E-5	0.006
18	44484181	C	A	18	46904218	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.24642887656211E-5	0.006
18	44484181	C	G	18	46904218	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.24642887656211E-5	0.006
18	44484181	C	T	18	46904218	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.24642887656211E-5	0.02
18	44486182	T	A	18	46906219	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.93817160649533E-4	0.022
18	44486182	T	C	18	46906219	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.03205080855697E-4	0.02
18	44486182	T	G	18	46906219	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	9.03205080855697E-4	0.02
18	44486183	A	C	18	46906220	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.93817160649533E-4	0.022
18	44486183	A	G	18	46906220	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.93817160649533E-4	0.022
18	44486183	A	T	18	46906220	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00112718970360815	0.042
18	44486184	C	A	18	46906221	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00116674076377048	0.018
18	44486184	C	G	18	46906221	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00116674076377048	0.02
18	44486184	C	T	18	46906221	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0011546168173277	0.03
18	44486185	T	A	18	46906222	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0010226947094531	0.018
18	44486185	T	C	18	46906222	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00112718970360815	0.022
18	44486185	T	G	18	46906222	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00112718970360815	0.024
18	44486186	T	A	18	46906223	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00105890617924374	0.02
18	44486186	T	C	18	46906223	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0010226947094531	0.018
18	44486186	T	G	18	46906223	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0010226947094531	0.018
18	44486187	A	C	18	46906224	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.85407544166358E-4	0.018
18	44486187	A	G	18	46906224	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	8.85407544166358E-4	0.018
18	44486187	A	T	18	46906224	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00105890617924374	0.018
18	44486188	A	C	18	46906225	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon3:c.19+2T>G)	.	.	0.00105890617924374	0.018
18	44486188	A	G	18	46906225	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon3:c.19+2T>C)	.	.	0.00105890617924374	0.018
18	44486188	A	T	18	46906225	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon3:c.19+2T>A)	.	.	9.5790567090439E-4	0.016
18	44486189	C	A	18	46906226	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon3:c.19+1G>T)	.	.	0.00132104877901869	0.016
18	44486189	C	G	18	46906226	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon3:c.19+1G>C)	.	.	0.00145598400866353	0.034
18	44486189	C	T	18	46906226	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000587810:exon3:c.19+1G>A)	.	.	0.00114375623611816	0.016
18	44486190	T	A	18	46906227	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.A19T:p.M7L;	9.5790567090439E-4	0.016
18	44486190	T	C	18	46906227	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.A19G:p.M7V;	9.5790567090439E-4	0.016
18	44486190	T	G	18	46906227	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.A19C:p.M7L;	9.5790567090439E-4	0.016
18	44486191	G	A	18	46906228	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.C18T:p.H6H;	0.0013678098747638	0.016
18	44486191	G	C	18	46906228	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.C18G:p.H6Q;	0.00132104877901869	0.016
18	44486191	G	T	18	46906228	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.C18A:p.H6Q;	0.0013678098747638	0.016
18	44486192	T	A	18	46906229	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.A17T:p.H6L;	9.5790567090439E-4	0.016
18	44486192	T	C	18	46906229	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.A17G:p.H6R;	9.5790567090439E-4	0.016
18	44486192	T	G	18	46906229	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000587810:exon2:c.A17C:p.H6P;	9.5790567090439E-4	0.016
18	44486277	T	A	18	46906314	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00544018778535048	0.072
18	44486277	T	C	18	46906314	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00544018778535048	0.068
18	44486277	T	G	18	46906314	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00544018778535048	0.066
18	44486278	C	A	18	46906315	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00261227525547131	0.076
18	44486278	C	G	18	46906315	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00188752003930919	0.022
18	44486278	C	T	18	46906315	n	y	intronic	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00261227525547131	0.08
18	44486279	C	A	18	46906316	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00261227525547131	0.076
18	44486279	C	G	18	46906316	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00188752003930919	0.022
18	44486279	C	T	18	46906316	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00261227525547131	0.08
18	44486280	T	A	18	46906317	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00544018778535048	0.072
18	44486280	T	C	18	46906317	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00544018778535048	0.066
18	44486280	T	G	18	46906317	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00544018778535048	0.066
18	44486281	A	C	18	46906318	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00544018778535048	0.066
18	44486281	A	G	18	46906318	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00544018778535048	0.066
18	44486281	A	T	18	46906318	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00544018778535048	0.072
18	44486282	G	A	18	46906319	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.09
18	44486282	G	C	18	46906319	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00170069162291012	0.01
18	44486282	G	T	18	46906319	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.032
18	44486283	C	A	18	46906320	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00122801865539616	0.016
18	44486283	C	G	18	46906320	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00123738203438252	0.014
18	44486283	C	T	18	46906320	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00202256015310896	0.026
18	44486284	C	A	18	46906321	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.032
18	44486284	C	G	18	46906321	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00170069162291012	0.01
18	44486284	C	T	18	46906321	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.09
18	44486285	A	C	18	46906322	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00544018778535048	0.068
18	44486285	A	G	18	46906322	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00607590331442281	0.066
18	44486285	A	T	18	46906322	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00544018778535048	0.072
18	44486286	G	A	18	46906323	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.08
18	44486286	G	C	18	46906323	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00158643864266349	0.006
18	44486286	G	T	18	46906323	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.026
18	44486287	C	A	18	46906324	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.028
18	44486287	C	G	18	46906324	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00158643864266349	0.004
18	44486287	C	T	18	46906324	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.08
18	44486288	A	C	18	46906325	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00607590331442281	0.072
18	44486288	A	G	18	46906325	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00340534343558519	0.074
18	44486288	A	T	18	46906325	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00544018778535048	0.072
18	44486289	C	A	18	46906326	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.02
18	44486289	C	G	18	46906326	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00158643864266349	0.004
18	44486289	C	T	18	46906326	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00261227525547131	0.112
18	44486290	A	C	18	46906327	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00372518022365331	0.098
18	44486290	A	G	18	46906327	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00372518022365331	0.102
18	44486290	A	T	18	46906327	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00544018778535048	0.064
18	44496784	T	A	18	46916821	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.10635321406437E-4	0.142
18	44496784	T	C	18	46916821	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.10635321406437E-4	0.134
18	44496784	T	G	18	46916821	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.10635321406437E-4	0.132
18	44496785	G	A	18	46916822	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0180806011847457	0.244
18	44496785	G	C	18	46916822	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0180806011847457	0.174
18	44496785	G	T	18	46916822	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0180806011847457	0.214
18	44496786	A	C	18	46916823	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0126802000014593	0.172
18	44496786	A	G	18	46916823	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0126802000014593	0.172
18	44496786	A	T	18	46916823	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0126802000014593	0.176
18	44496787	C	A	18	46916824	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0255131647487048	0.22
18	44496787	C	G	18	46916824	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0255131647487048	0.178
18	44496787	C	T	18	46916824	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0255131647487048	0.222
18	44496788	A	C	18	46916825	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.438455591420921	0.624
18	44496788	A	G	18	46916825	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.438455591420921	0.624
18	44496788	A	T	18	46916825	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.438455591420921	0.6
18	44496789	G	A	18	46916826	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	6.47503372442534E-5	0.128
18	44496789	G	C	18	46916826	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.75063351431039E-5	0.108
18	44496789	G	T	18	46916826	n	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	5.75063351431039E-5	0.112
18	44496790	A	C	18	46916827	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000586953:exon2:c.18+2T>G)	.	.	4.65010521669075E-4	0.178
18	44496790	A	G	18	46916827	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000586953:exon2:c.18+2T>C)	.	.	4.65010521669075E-4	0.158
18	44496790	A	T	18	46916827	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000586953:exon2:c.18+2T>A)	.	.	4.15766134322232E-4	0.17
18	44496791	C	A	18	46916828	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000586953:exon2:c.18+1G>T)	.	.	6.47503372442534E-5	0.17
18	44496791	C	G	18	46916828	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000586953:exon2:c.18+1G>C)	.	.	6.47503372442534E-5	0.126
18	44496791	C	T	18	46916828	n	y	intronic	PIAS2	.	.	splicing	ENSG00000078043(ENST00000586953:exon2:c.18+1G>A)	.	.	6.47503372442534E-5	0.19
18	44496792	C	A	18	46916829	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000586953:exon1:c.G18T:p.Q6H;	0.874002841190976	0.766
18	44496792	C	G	18	46916829	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000586953:exon1:c.G18C:p.Q6H;	0.874002841190976	0.77
18	44496792	C	T	18	46916829	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000586953:exon1:c.G18A:p.Q6Q;	0.874002841190976	0.77
18	44496793	T	A	18	46916830	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000586953:exon1:c.A17T:p.Q6L;	4.29613370066218E-5	0.13
18	44496793	T	C	18	46916830	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000586953:exon1:c.A17G:p.Q6R;	4.29613370066218E-5	0.132
18	44496793	T	G	18	46916830	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000586953:exon1:c.A17C:p.Q6P;	4.29613370066218E-5	0.13
18	44496794	G	A	18	46916831	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	stopgain SNV	ENSG00000078043:ENST00000586953:exon1:c.C16T:p.Q6X;	2.892737271948E-4	0.158
18	44496794	G	C	18	46916831	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000586953:exon1:c.C16G:p.Q6E;	2.892737271948E-4	0.184
18	44496794	G	T	18	46916831	n	y	intronic	PIAS2	.	.	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000586953:exon1:c.C16A:p.Q6K;	2.892737271948E-4	0.164
18	44497277	C	A	18	46917314	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00857332212745099	0.064
18	44497277	C	G	18	46917314	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0209621506885602	0.034
18	44497277	C	T	18	46917314	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.00802876468566367	0.068
18	44497278	C	A	18	46917315	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	3.42184278428053E-5	0.0
18	44497278	C	G	18	46917315	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.15917594430737E-4	0.0
18	44497278	C	T	18	46917315	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.54953104568938E-4	0.0
18	44497279	G	A	18	46917316	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	7.91220577059246E-5	0.006
18	44497279	G	C	18	46917316	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.81251955896475E-4	0.03
18	44497279	G	T	18	46917316	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	1.78176127752606E-4	0.016
18	44497280	C	A	18	46917317	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.99827172917331	0.856
18	44497280	C	G	18	46917317	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.997815199240531	0.882
18	44497280	C	T	18	46917317	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.998022449179336	0.922
18	44497281	T	A	18	46917318	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.970989791834912	0.554
18	44497281	T	C	18	46917318	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.820331054454841	0.49
18	44497281	T	G	18	46917318	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.917980207405285	0.488
18	44497282	T	A	18	46917319	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.999697280191792	0.924
18	44497282	T	C	18	46917319	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.0401192282972144	0.31
18	44497282	T	G	18	46917319	y	y	intronic	PIAS2	.	.	intronic	ENSG00000078043	.	.	0.996417871502636	0.88
18	44497283	A	C	18	46917320	y	y	splicing	PIAS2(NM_004671:exon2:c.24+2T>G;NM_173206:exon2:c.24+2T>G)	.	.	splicing	ENSG00000078043(ENST00000585916:exon2:c.24+2T>G;ENST00000398654:exon2:c.24+2T>G;ENST00000324794:exon2:c.24+2T>G)	.	.	0.999989692343854	0.926
18	44497283	A	G	18	46917320	y	y	splicing	PIAS2(NM_004671:exon2:c.24+2T>C;NM_173206:exon2:c.24+2T>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon2:c.24+2T>C;ENST00000398654:exon2:c.24+2T>C;ENST00000324794:exon2:c.24+2T>C)	.	.	0.999954218151201	0.878
18	44497283	A	T	18	46917320	y	y	splicing	PIAS2(NM_004671:exon2:c.24+2T>A;NM_173206:exon2:c.24+2T>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon2:c.24+2T>A;ENST00000398654:exon2:c.24+2T>A;ENST00000324794:exon2:c.24+2T>A)	.	.	0.999989692343854	0.926
18	44497284	C	A	18	46917321	y	y	splicing	PIAS2(NM_004671:exon2:c.24+1G>T;NM_173206:exon2:c.24+1G>T)	.	.	splicing	ENSG00000078043(ENST00000585916:exon2:c.24+1G>T;ENST00000398654:exon2:c.24+1G>T;ENST00000324794:exon2:c.24+1G>T)	.	.	0.999976497614174	0.892
18	44497284	C	G	18	46917321	y	y	splicing	PIAS2(NM_004671:exon2:c.24+1G>C;NM_173206:exon2:c.24+1G>C)	.	.	splicing	ENSG00000078043(ENST00000585916:exon2:c.24+1G>C;ENST00000398654:exon2:c.24+1G>C;ENST00000324794:exon2:c.24+1G>C)	.	.	0.999967275048296	0.892
18	44497284	C	T	18	46917321	y	y	splicing	PIAS2(NM_004671:exon2:c.24+1G>A;NM_173206:exon2:c.24+1G>A)	.	.	splicing	ENSG00000078043(ENST00000585916:exon2:c.24+1G>A;ENST00000398654:exon2:c.24+1G>A;ENST00000324794:exon2:c.24+1G>A)	.	.	0.999976497614174	0.892
18	44497285	C	A	18	46917322	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon1:c.G24T:p.R8S;PIAS2:NM_004671:exon1:c.G24T:p.R8S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.G24T:p.R8S;ENSG00000078043:ENST00000585916:exon1:c.G24T:p.R8S;ENSG00000078043:ENST00000398654:exon1:c.G24T:p.R8S;	0.998072010189831	0.908
18	44497285	C	G	18	46917322	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon1:c.G24C:p.R8S;PIAS2:NM_004671:exon1:c.G24C:p.R8S;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.G24C:p.R8S;ENSG00000078043:ENST00000585916:exon1:c.G24C:p.R8S;ENSG00000078043:ENST00000398654:exon1:c.G24C:p.R8S;	0.999108116838609	0.772
18	44497285	C	T	18	46917322	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon1:c.G24A:p.R8R;PIAS2:NM_004671:exon1:c.G24A:p.R8R;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.G24A:p.R8R;ENSG00000078043:ENST00000585916:exon1:c.G24A:p.R8R;ENSG00000078043:ENST00000398654:exon1:c.G24A:p.R8R;	0.997736410395434	0.856
18	44497286	C	A	18	46917323	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon1:c.G23T:p.R8M;PIAS2:NM_004671:exon1:c.G23T:p.R8M;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.G23T:p.R8M;ENSG00000078043:ENST00000585916:exon1:c.G23T:p.R8M;ENSG00000078043:ENST00000398654:exon1:c.G23T:p.R8M;	8.27740102153141E-4	0.102
18	44497286	C	G	18	46917323	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon1:c.G23C:p.R8T;PIAS2:NM_004671:exon1:c.G23C:p.R8T;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.G23C:p.R8T;ENSG00000078043:ENST00000585916:exon1:c.G23C:p.R8T;ENSG00000078043:ENST00000398654:exon1:c.G23C:p.R8T;	1.12203793030274E-4	0.006
18	44497286	C	T	18	46917323	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon1:c.G23A:p.R8K;PIAS2:NM_004671:exon1:c.G23A:p.R8K;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.G23A:p.R8K;ENSG00000078043:ENST00000585916:exon1:c.G23A:p.R8K;ENSG00000078043:ENST00000398654:exon1:c.G23A:p.R8K;	2.65914683427049E-5	0.012
18	44497287	T	A	18	46917324	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon1:c.A22T:p.R8W;PIAS2:NM_004671:exon1:c.A22T:p.R8W;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.A22T:p.R8W;ENSG00000078043:ENST00000585916:exon1:c.A22T:p.R8W;ENSG00000078043:ENST00000398654:exon1:c.A22T:p.R8W;	0.113733331899953	0.216
18	44497287	T	C	18	46917324	y	y	exonic	PIAS2	nonsynonymous SNV	PIAS2:NM_173206:exon1:c.A22G:p.R8G;PIAS2:NM_004671:exon1:c.A22G:p.R8G;	exonic	ENSG00000078043	nonsynonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.A22G:p.R8G;ENSG00000078043:ENST00000585916:exon1:c.A22G:p.R8G;ENSG00000078043:ENST00000398654:exon1:c.A22G:p.R8G;	0.00694704550511084	0.086
18	44497287	T	G	18	46917324	y	y	exonic	PIAS2	synonymous SNV	PIAS2:NM_173206:exon1:c.A22C:p.R8R;PIAS2:NM_004671:exon1:c.A22C:p.R8R;	exonic	ENSG00000078043	synonymous SNV	ENSG00000078043:ENST00000324794:exon1:c.A22C:p.R8R;ENSG00000078043:ENST00000585916:exon1:c.A22C:p.R8R;ENSG00000078043:ENST00000398654:exon1:c.A22C:p.R8R;	0.00379348977452001	0.038
18	44497887	T	A	18	46917924	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	1.15848793503966E-4	0.012
18	44497887	T	C	18	46917924	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	1.15848793503966E-4	0.004
18	44497887	T	G	18	46917924	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	1.15848793503966E-4	0.0
18	44497888	G	A	18	46917925	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	1.05286227267707E-4	0.022
18	44497888	G	C	18	46917925	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	7.07104882285196E-5	0.014
18	44497888	G	T	18	46917925	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	1.05286227267707E-4	0.022
18	44497889	G	A	18	46917926	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	8.67771059983109E-5	0.0
18	44497889	G	C	18	46917926	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	1.23857383125425E-4	0.0
18	44497889	G	T	18	46917926	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000167216	.	.	6.65334199172508E-5	0.0
18	44497890	G	A	18	46917927	n	y	upstream	PIAS2	.	.	splicing	ENSG00000167216	.	.	1.5982790009972E-4	0.002
18	44497890	G	C	18	46917927	n	y	upstream	PIAS2	.	.	splicing	ENSG00000167216	.	.	2.08581954909107E-4	0.014
18	44497890	G	T	18	46917927	n	y	upstream	PIAS2	.	.	splicing	ENSG00000167216	.	.	2.33698758487849E-4	0.016
18	44497891	T	A	18	46917928	n	y	upstream	PIAS2	.	.	splicing	ENSG00000167216	.	.	4.20745070023706E-5	0.0
18	44497891	T	C	18	46917928	n	y	upstream	PIAS2	.	.	splicing	ENSG00000167216	.	.	4.63781692334092E-5	0.016
18	44497891	T	G	18	46917928	n	y	upstream	PIAS2	.	.	splicing	ENSG00000167216	.	.	4.63781692334092E-5	0.004
18	44497892	A	C	18	46917929	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	4.63781692334092E-5	0.004
18	44497892	A	G	18	46917929	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	4.63781692334092E-5	0.004
18	44497892	A	T	18	46917929	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	4.20745070023706E-5	0.0
18	44497893	A	C	18	46917930	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	0.00869109162926711	0.094
18	44497893	A	G	18	46917930	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	0.00869109162926711	0.094
18	44497893	A	T	18	46917930	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	0.00869109162926711	0.098
18	44497894	G	A	18	46917931	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	3.19741591768723E-4	0.012
18	44497894	G	C	18	46917931	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	3.53478596944822E-4	0.01
18	44497894	G	T	18	46917931	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	3.53478596944822E-4	0.01
18	44497895	C	A	18	46917932	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	0.0116550828773622	0.082
18	44497895	C	G	18	46917932	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	0.0116550828773622	0.042
18	44497895	C	T	18	46917932	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	0.0116550828773622	0.142
18	44497896	T	A	18	46917933	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	7.50908827319045E-5	0.004
18	44497896	T	C	18	46917933	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	7.50908827319045E-5	0.0
18	44497896	T	G	18	46917933	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	6.41475706302981E-5	0.0
18	44497897	A	C	18	46917934	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	1.99199617690849E-4	0.006
18	44497897	A	G	18	46917934	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	1.99199617690849E-4	0.006
18	44497897	A	T	18	46917934	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	1.99199617690849E-4	0.006
18	44497957	G	A	18	46917994	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	8.67378569920084E-5	0.004
18	44497957	G	C	18	46917994	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	7.85892088628007E-5	0.004
18	44497957	G	T	18	46917994	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	8.67378569920084E-5	0.004
18	44497958	T	A	18	46917995	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	1.0929737662516E-4	0.006
18	44497958	T	C	18	46917995	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	6.67601383604536E-5	0.002
18	44497958	T	G	18	46917995	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	6.67601383604536E-5	0.002
18	44497959	A	C	18	46917996	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	4.11284061300141E-5	0.0
18	44497959	A	G	18	46917996	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	4.11284061300141E-5	0.0
18	44497959	A	T	18	46917996	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	4.11284061300141E-5	0.0
18	44497960	C	A	18	46917997	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	5.7106675465155E-5	0.0
18	44497960	C	G	18	46917997	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	5.7106675465155E-5	0.0
18	44497960	C	T	18	46917997	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	9.68632724264029E-5	0.002
18	44497961	C	A	18	46917998	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	6.25580661932895E-5	0.01
18	44497961	C	G	18	46917998	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	6.25580661932895E-5	0.006
18	44497961	C	T	18	46917998	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	6.25580661932895E-5	0.006
18	44497962	A	C	18	46917999	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	3.90066968634554E-5	0.002
18	44497962	A	G	18	46917999	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	3.90066968634554E-5	0.002
18	44497962	A	T	18	46917999	n	y	upstream	PIAS2	.	.	intronic	ENSG00000078043;ENSG00000167216	.	.	3.90066968634554E-5	0.004
18	44497963	A	C	18	46918000	n	y	upstream	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00267178346707102	0.02
18	44497963	A	G	18	46918000	n	y	upstream	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00267178346707102	0.03
18	44497963	A	T	18	46918000	n	y	upstream	PIAS2	.	.	splicing	ENSG00000078043	.	.	0.00267178346707102	0.026
18	44497964	C	A	18	46918001	n	y	upstream	PIAS2	.	.	splicing	ENSG00000078043	.	.	8.19822057903476E-4	0.004
18	44497964	C	G	18	46918001	n	y	upstream	PIAS2	.	.	splicing	ENSG00000078043	.	.	5.82795608102266E-4	0.01
18	44497964	C	T	18	46918001	n	y	upstream	PIAS2	.	.	splicing	ENSG00000078043	.	.	8.28677872108501E-4	0.008
18	44497965	C	A	18	46918002	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	3.80326084273412E-5	0.006
18	44497965	C	G	18	46918002	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	3.80326084273412E-5	0.006
18	44497965	C	T	18	46918002	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	5.4663023071037E-5	0.006
18	44497966	T	A	18	46918003	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00267178346707102	0.016
18	44497966	T	C	18	46918003	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00198562305510656	0.02
18	44497966	T	G	18	46918003	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	0.00198562305510656	0.02
18	44497967	T	A	18	46918004	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	9.1795562763263E-5	0.002
18	44497967	T	C	18	46918004	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	7.88901258699267E-5	0.002
18	44497967	T	G	18	46918004	n	y	upstream	PIAS2	.	.	UTR5	ENSG00000078043	.	.	7.88901258699267E-5	0.002
18	44526008	T	A	18	46946045	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00278424957825301	0.018
18	44526008	T	C	18	46946045	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00278424957825301	0.038
18	44526008	T	G	18	46946045	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00278424957825301	0.022
18	44526009	T	A	18	46946046	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.45494533938285E-4	0.006
18	44526009	T	C	18	46946046	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.5894544003373E-4	0.018
18	44526009	T	G	18	46946046	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.5894544003373E-4	0.018
18	44526010	T	A	18	46946047	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.95049156646856E-4	0.006
18	44526010	T	C	18	46946047	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.54636443065537E-4	0.018
18	44526010	T	G	18	46946047	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.54636443065537E-4	0.01
18	44526011	T	A	18	46946048	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.13076687326313E-4	0.004
18	44526011	T	C	18	46946048	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.13076687326313E-4	0.002
18	44526011	T	G	18	46946048	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.13076687326313E-4	0.0
18	44526012	T	A	18	46946049	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.04720974779984E-4	0.0
18	44526012	T	C	18	46946049	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.48861438844613E-4	0.002
18	44526012	T	G	18	46946049	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.48861438844613E-4	0.002
18	44526013	T	A	18	46946050	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00130773304317029	0.022
18	44526013	T	C	18	46946050	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00130773304317029	0.052
18	44526013	T	G	18	46946050	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00130773304317029	0.004
18	44526014	T	A	18	46946051	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.72819193105798E-4	0.06
18	44526014	T	C	18	46946051	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.63188053367497E-4	0.0
18	44526014	T	G	18	46946051	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.63188053367497E-4	0.0
18	44526015	T	A	18	46946052	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00145419909006234	0.0
18	44526015	T	C	18	46946052	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00147809542693229	0.004
18	44526015	T	G	18	46946052	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00147809542693229	0.016
18	44526016	G	A	18	46946053	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.12967705479703E-5	0.0
18	44526016	G	C	18	46946053	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.05567792764038E-5	0.002
18	44526016	G	T	18	46946053	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.05567792764038E-5	0.0
18	44526017	T	A	18	46946054	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.15941453541388E-5	0.002
18	44526017	T	C	18	46946054	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.15941453541388E-5	0.002
18	44526017	T	G	18	46946054	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.15941453541388E-5	0.002
18	44526018	A	C	18	46946055	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	3.0224965715407E-4	0.0
18	44526018	A	G	18	46946055	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	3.0224965715407E-4	0.0
18	44526018	A	T	18	46946055	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	3.0224965715407E-4	0.0
18	44526019	G	A	18	46946056	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	5.04349982970396E-5	0.0
18	44526019	G	C	18	46946056	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	5.04349982970396E-5	0.0
18	44526019	G	T	18	46946056	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	5.04349982970396E-5	0.0
18	44526020	A	C	18	46946057	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.1193638191297E-4	0.002
18	44526020	A	G	18	46946057	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.1193638191297E-4	0.002
18	44526020	A	T	18	46946057	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.83253076109763E-4	0.004
18	44526021	T	A	18	46946058	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	4.19523722086209E-5	0.0
18	44526021	T	C	18	46946058	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	4.19523722086209E-5	0.0
18	44526021	T	G	18	46946058	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	4.19523722086209E-5	0.0
18	44526236	C	A	18	46946273	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.08788427788342E-5	0.0
18	44526236	C	G	18	46946273	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.08788427788342E-5	0.0
18	44526236	C	T	18	46946273	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.1738525533333E-5	0.0
18	44526237	A	C	18	46946274	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	7.42544334184685E-5	0.01
18	44526237	A	G	18	46946274	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	7.42544334184685E-5	0.01
18	44526237	A	T	18	46946274	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	7.42544334184685E-5	0.012
18	44526238	G	A	18	46946275	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.3994564522384E-5	0.01
18	44526238	G	C	18	46946275	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.20862408805592E-5	0.08
18	44526238	G	T	18	46946275	n	y	upstream	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.3994564522384E-5	0.014
18	44526239	G	A	18	46946276	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	4.39765988491657E-5	0.006
18	44526239	G	C	18	46946276	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	1.01559384236425E-5	0.004
18	44526239	G	T	18	46946276	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	4.39765988491657E-5	0.006
18	44526240	T	A	18	46946277	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	2.90917972120175E-4	0.024
18	44526240	T	C	18	46946277	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	6.37953350836995E-4	0.024
18	44526240	T	G	18	46946277	n	y	upstream	KATNAL2	.	.	splicing	ENSG00000167216	.	.	6.37953350836995E-4	0.024
18	44526241	C	A	18	46946278	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.07620641825897E-5	0.0
18	44526241	C	G	18	46946278	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.07620641825897E-5	0.0
18	44526241	C	T	18	46946278	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.31929338280547E-5	0.0
18	44526242	T	A	18	46946279	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.8042999492716E-5	0.012
18	44526242	T	C	18	46946279	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.4243997895107E-5	0.01
18	44526242	T	G	18	46946279	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.4243997895107E-5	0.01
18	44526243	G	A	18	46946280	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.78864525412067E-5	0.0
18	44526243	G	C	18	46946280	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.45277156108894E-5	0.0
18	44526243	G	T	18	46946280	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.78864525412067E-5	0.0
18	44526244	A	C	18	46946281	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.29276528558917E-5	0.006
18	44526244	A	G	18	46946281	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.29276528558917E-5	0.006
18	44526244	A	T	18	46946281	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.29276528558917E-5	0.006
18	44526245	T	A	18	46946282	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.25524929795369E-5	0.0
18	44526245	T	C	18	46946282	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.46004206284423E-5	0.0
18	44526245	T	G	18	46946282	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.46004206284423E-5	0.0
18	44526246	G	A	18	46946283	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.08291490468438E-5	0.006
18	44526246	G	C	18	46946283	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.1738525533333E-5	0.004
18	44526246	G	T	18	46946283	n	y	upstream	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.08291490468438E-5	0.008
18	44526805	T	A	18	46946842	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.45847354017477E-4	0.006
18	44526805	T	C	18	46946842	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.75368172280489E-4	0.006
18	44526805	T	G	18	46946842	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.75368172280489E-4	0.006
18	44526806	C	A	18	46946843	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	5.58255349957421E-5	0.0
18	44526806	C	G	18	46946843	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	5.58255349957421E-5	0.0
18	44526806	C	T	18	46946843	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	5.58255349957421E-5	0.0
18	44526807	C	A	18	46946844	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.63915916572906E-4	0.014
18	44526807	C	G	18	46946844	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.33950268484782E-4	0.008
18	44526807	C	T	18	46946844	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.243298286616E-4	0.024
18	44526808	C	A	18	46946845	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.15272379410342E-4	0.002
18	44526808	C	G	18	46946845	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.15272379410342E-4	0.002
18	44526808	C	T	18	46946845	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.34128699125326E-4	0.002
18	44526809	T	A	18	46946846	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.15928322694241E-4	0.002
18	44526809	T	C	18	46946846	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.51591174045998E-4	0.024
18	44526809	T	G	18	46946846	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.50014361262222E-4	0.022
18	44526810	T	A	18	46946847	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	4.21649339220785E-5	0.0
18	44526810	T	C	18	46946847	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.82035599739421E-5	0.002
18	44526810	T	G	18	46946847	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.82035599739421E-5	0.0
18	44526811	C	A	18	46946848	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	5.52521099548755E-5	0.0
18	44526811	C	G	18	46946848	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	5.52521099548755E-5	0.002
18	44526811	C	T	18	46946848	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	5.52521099548755E-5	0.0
18	44526812	T	A	18	46946849	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.20680598236039E-4	0.028
18	44526812	T	C	18	46946849	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.20680598236039E-4	0.016
18	44526812	T	G	18	46946849	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.20680598236039E-4	0.012
18	44526813	C	A	18	46946850	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.20688792087982E-4	0.07
18	44526813	C	G	18	46946850	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.20688792087982E-4	0.006
18	44526813	C	T	18	46946850	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	8.25367971132387E-5	0.002
18	44526814	T	A	18	46946851	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.52546990698598E-4	0.006
18	44526814	T	C	18	46946851	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.45055018916438E-4	0.008
18	44526814	T	G	18	46946851	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.17363771949421E-4	0.016
18	44526815	A	C	18	46946852	n	y	UTR5	KATNAL2	.	.	splicing	ENSG00000167216	.	.	1.6240101400284E-4	0.018
18	44526815	A	G	18	46946852	n	y	UTR5	KATNAL2	.	.	splicing	ENSG00000167216	.	.	1.6240101400284E-4	0.018
18	44526815	A	T	18	46946852	n	y	UTR5	KATNAL2	.	.	splicing	ENSG00000167216	.	.	2.2766997665876E-4	0.006
18	44526816	G	A	18	46946853	n	y	UTR5	KATNAL2	.	.	splicing	ENSG00000167216	.	.	6.9382166723037E-5	0.0
18	44526816	G	C	18	46946853	n	y	UTR5	KATNAL2	.	.	splicing	ENSG00000167216	.	.	9.21296774668897E-5	0.0
18	44526816	G	T	18	46946853	n	y	UTR5	KATNAL2	.	.	splicing	ENSG00000167216	.	.	1.29160240419271E-4	0.0
18	44526817	G	A	18	46946854	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.0028358917035808	0.122
18	44526817	G	C	18	46946854	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00182038306899683	0.14
18	44526817	G	T	18	46946854	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00182038306899683	0.156
18	44526818	G	A	18	46946855	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.98561944552076E-4	0.008
18	44526818	G	C	18	46946855	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.7357792130175E-4	0.0
18	44526818	G	T	18	46946855	n	y	UTR5	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.7357792130175E-4	0.0
18	44526884	G	A	18	46946921	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.G49A:p.A17T;ENSG00000167216:ENST00000356157:exon1:c.G49A:p.A17T;	5.45559326593843E-4	0.028
18	44526884	G	C	18	46946921	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.G49C:p.A17P;ENSG00000167216:ENST00000356157:exon1:c.G49C:p.A17P;	0.275194754603294	0.538
18	44526884	G	T	18	46946921	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.G49T:p.A17S;ENSG00000167216:ENST00000356157:exon1:c.G49T:p.A17S;	0.00208728691221193	0.114
18	44526885	C	A	18	46946922	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.C50A:p.A17E;ENSG00000167216:ENST00000356157:exon1:c.C50A:p.A17E;	6.28311652554691E-4	0.102
18	44526885	C	G	18	46946922	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.C50G:p.A17G;ENSG00000167216:ENST00000356157:exon1:c.C50G:p.A17G;	0.0167362585204752	0.308
18	44526885	C	T	18	46946922	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.C50T:p.A17V;ENSG00000167216:ENST00000356157:exon1:c.C50T:p.A17V;	0.250884351586139	0.35
18	44526886	G	A	18	46946923	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.G51A:p.A17A;ENSG00000167216:ENST00000356157:exon1:c.G51A:p.A17A;	0.999989824567334	1.0
18	44526886	G	C	18	46946923	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.G51C:p.A17A;ENSG00000167216:ENST00000356157:exon1:c.G51C:p.A17A;	0.999995075963393	0.992
18	44526886	G	T	18	46946923	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon3:c.G51T:p.A17A;ENSG00000167216:ENST00000356157:exon1:c.G51T:p.A17A;	0.99997854980366	0.998
18	44526887	G	A	18	46946924	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon3:c.51+1G>A;ENST00000356157:exon1:c.51+1G>A)	.	.	0.999990361384395	0.938
18	44526887	G	C	18	46946924	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon3:c.51+1G>C;ENST00000356157:exon1:c.51+1G>C)	.	.	0.999990361384395	0.938
18	44526887	G	T	18	46946924	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon3:c.51+1G>T;ENST00000356157:exon1:c.51+1G>T)	.	.	0.999990361384395	0.938
18	44526888	T	A	18	46946925	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon3:c.51+2T>A;ENST00000356157:exon1:c.51+2T>A)	.	.	0.999988247793601	0.93
18	44526888	T	C	18	46946925	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon3:c.51+2T>C;ENST00000356157:exon1:c.51+2T>C)	.	.	0.99991522016916	0.904
18	44526888	T	G	18	46946925	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon3:c.51+2T>G;ENST00000356157:exon1:c.51+2T>G)	.	.	0.999988247793601	0.93
18	44526889	A	C	18	46946926	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999559864809523	0.956
18	44526889	A	G	18	46946926	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.995614719483798	0.576
18	44526889	A	T	18	46946926	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999503784929013	0.986
18	44526890	A	C	18	46946927	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.998860404437126	0.908
18	44526890	A	G	18	46946927	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999588076885645	0.968
18	44526890	A	T	18	46946927	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999637094333781	0.904
18	44526891	G	A	18	46946928	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999902107985246	0.958
18	44526891	G	C	18	46946928	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99972141833251	0.95
18	44526891	G	T	18	46946928	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99973140906546	0.862
18	44526892	G	A	18	46946929	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.25251930933114E-4	0.03
18	44526892	G	C	18	46946929	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.93367092135178E-4	0.058
18	44526892	G	T	18	46946929	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.36375703979205E-4	0.004
18	44526893	A	C	18	46946930	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00795550234021026	0.022
18	44526893	A	G	18	46946930	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00511816104838532	0.026
18	44526893	A	T	18	46946930	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0138481454023573	0.022
18	44526894	A	C	18	46946931	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.65937879473535E-5	0.0
18	44526894	A	G	18	46946931	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.03952304980227E-5	0.0
18	44526894	A	T	18	46946931	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.30493195487327E-5	0.0
18	44572750	T	A	18	47046379	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.33698758487849E-4	0.03
18	44572750	T	C	18	47046379	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.16855814842379E-4	0.004
18	44572750	T	G	18	47046379	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.16855814842379E-4	0.004
18	44572751	T	A	18	47046380	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00795550234021026	0.024
18	44572751	T	C	18	47046380	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00763559792386277	0.024
18	44572751	T	G	18	47046380	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00763559792386277	0.024
18	44572752	T	A	18	47046381	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.16080636402324E-4	0.0
18	44572752	T	C	18	47046381	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.19087666414529E-4	0.004
18	44572752	T	G	18	47046381	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.19087666414529E-4	0.002
18	44572753	A	C	18	47046382	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.47600184168207E-4	0.036
18	44572753	A	G	18	47046382	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.47600184168207E-4	0.036
18	44572753	A	T	18	47046382	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.03412550453939E-4	0.032
18	44572754	C	A	18	47046383	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00150263893839781	0.01
18	44572754	C	G	18	47046383	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00151841170347799	0.026
18	44572754	C	T	18	47046383	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00211814652521417	0.026
18	44572755	C	A	18	47046384	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.87625811798763E-5	0.004
18	44572755	C	G	18	47046384	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.12418598113673E-4	0.0
18	44572755	C	T	18	47046384	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.07795212008847E-4	0.05
18	44572756	T	A	18	47046385	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.91335385279169E-4	0.0
18	44572756	T	C	18	47046385	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.69968134076753E-4	0.0
18	44572756	T	G	18	47046385	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.69968134076753E-4	0.0
18	44572757	T	A	18	47046386	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.38258961194127E-5	0.042
18	44572757	T	C	18	47046386	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.55183766894313E-5	0.034
18	44572757	T	G	18	47046386	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.55183766894313E-5	0.034
18	44572758	C	A	18	47046387	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.03406150612739E-5	0.01
18	44572758	C	G	18	47046387	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.03406150612739E-5	0.01
18	44572758	C	T	18	47046387	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.03406150612739E-5	0.01
18	44572759	C	A	18	47046388	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.13105871323179E-5	0.0
18	44572759	C	G	18	47046388	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.13105871323179E-5	0.0
18	44572759	C	T	18	47046388	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.13105871323179E-5	0.0
18	44572760	A	C	18	47046389	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216	.	.	2.94150225543254E-5	0.01
18	44572760	A	G	18	47046389	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216	.	.	2.94150225543254E-5	0.01
18	44572760	A	T	18	47046389	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216	.	.	2.19969732123715E-5	0.006
18	44572761	G	A	18	47046390	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216	.	.	7.55948984093289E-5	0.028
18	44572761	G	C	18	47046390	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216	.	.	7.55948984093289E-5	0.03
18	44572761	G	T	18	47046390	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216	.	.	7.55948984093289E-5	0.032
18	44572762	G	A	18	47046391	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.86431456331734E-5	0.002
18	44572762	G	C	18	47046391	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.20695034961553E-5	0.032
18	44572762	G	T	18	47046391	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.86431456331734E-5	0.002
18	44572763	G	A	18	47046392	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.74480241737554E-4	0.008
18	44572763	G	C	18	47046392	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.33308296055063E-4	0.052
18	44572763	G	T	18	47046392	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.33308296055063E-4	0.092
18	44572816	C	A	18	47046445	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.38606562712817E-5	0.0
18	44572816	C	G	18	47046445	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.38606562712817E-5	0.0
18	44572816	C	T	18	47046445	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.38606562712817E-5	0.0
18	44572817	C	A	18	47046446	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.07620641825897E-5	0.0
18	44572817	C	G	18	47046446	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.07620641825897E-5	0.0
18	44572817	C	T	18	47046446	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.07620641825897E-5	0.0
18	44572818	T	A	18	47046447	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	9.46690455874209E-4	0.012
18	44572818	T	C	18	47046447	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	7.98619936640435E-4	0.008
18	44572818	T	G	18	47046447	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	7.98619936640435E-4	0.008
18	44572819	C	A	18	47046448	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.19483297123202E-4	0.022
18	44572819	C	G	18	47046448	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	1.60374387424148E-4	0.014
18	44572819	C	T	18	47046448	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	2.4591248424289E-4	0.014
18	44572820	T	A	18	47046449	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00535833632805705	0.01
18	44572820	T	C	18	47046449	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00525596247628132	0.014
18	44572820	T	G	18	47046449	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00525596247628132	0.014
18	44572821	G	A	18	47046450	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.03056377962419E-4	0.016
18	44572821	G	C	18	47046450	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.08042231235821E-4	0.022
18	44572821	G	T	18	47046450	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	3.03056377962419E-4	0.014
18	44572822	T	A	18	47046451	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.0095592049119429	0.024
18	44572822	T	C	18	47046451	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00795240895905388	0.024
18	44572822	T	G	18	47046451	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.0095592049119429	0.024
18	44572823	T	A	18	47046452	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.0147521827036193	0.032
18	44572823	T	C	18	47046452	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.0095592049119429	0.024
18	44572823	T	G	18	47046452	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.0095592049119429	0.022
18	44572824	C	A	18	47046453	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00288590869246038	0.024
18	44572824	C	G	18	47046453	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00195198233149392	0.03
18	44572824	C	T	18	47046453	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00288590869246038	0.03
18	44572825	C	A	18	47046454	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00319246876455367	0.052
18	44572825	C	G	18	47046454	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00319246876455367	0.05
18	44572825	C	T	18	47046454	n	y	intronic	KATNAL2	.	.	UTR5	ENSG00000167216	.	.	0.00319246876455367	0.08
18	44572826	A	C	18	47046455	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000356157:exon2:c.52-2A>C)	.	.	0.013428783605934	0.122
18	44572826	A	G	18	47046455	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000356157:exon2:c.52-2A>G)	.	.	0.0119442856015914	0.116
18	44572826	A	T	18	47046455	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000356157:exon2:c.52-2A>T)	.	.	0.013428783605934	0.148
18	44572827	G	A	18	47046456	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000356157:exon2:c.52-1G>A)	.	.	0.995030058536757	0.92
18	44572827	G	C	18	47046456	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000356157:exon2:c.52-1G>C)	.	.	0.995030058536757	0.894
18	44572827	G	T	18	47046456	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000356157:exon2:c.52-1G>T)	.	.	0.995030058536757	0.898
18	44572828	T	A	18	47046457	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000356157:exon2:c.T52A:p.C18S;	0.181614284968627	0.42
18	44572828	T	C	18	47046457	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000356157:exon2:c.T52C:p.C18R;	0.0199775011411057	0.094
18	44572828	T	G	18	47046457	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000356157:exon2:c.T52G:p.C18G;	0.0199775011411057	0.056
18	44572829	G	A	18	47046458	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000356157:exon2:c.G53A:p.C18Y;	2.04353650666994E-4	0.004
18	44572829	G	C	18	47046458	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000356157:exon2:c.G53C:p.C18S;	2.04353650666994E-4	0.004
18	44572829	G	T	18	47046458	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000356157:exon2:c.G53T:p.C18F;	1.85393371447899E-4	0.004
18	44572896	A	C	18	47046525	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.A63C:p.E21D;ENSG00000167216:ENST00000356157:exon2:c.A120C:p.E40D;	0.181614284968627	0.398
18	44572896	A	G	18	47046525	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.A63G:p.E21E;ENSG00000167216:ENST00000356157:exon2:c.A120G:p.E40E;	0.0027300227253325	0.012
18	44572896	A	T	18	47046525	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.A63T:p.E21D;ENSG00000167216:ENST00000356157:exon2:c.A120T:p.E40D;	0.181614284968627	0.524
18	44572897	G	A	18	47046526	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.G64A:p.G22R;ENSG00000167216:ENST00000356157:exon2:c.G121A:p.G41R;	0.995030058536757	0.878
18	44572897	G	C	18	47046526	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.G64C:p.G22R;ENSG00000167216:ENST00000356157:exon2:c.G121C:p.G41R;	0.99322353305357	0.854
18	44572897	G	T	18	47046526	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.G64T:p.G22W;ENSG00000167216:ENST00000356157:exon2:c.G121T:p.G41W;	0.993733916693694	0.868
18	44572898	G	A	18	47046527	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.G65A:p.G22E;ENSG00000167216:ENST00000356157:exon2:c.G122A:p.G41E;	0.99322353305357	0.856
18	44572898	G	C	18	47046527	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.G65C:p.G22A;ENSG00000167216:ENST00000356157:exon2:c.G122C:p.G41A;	0.993733916693694	0.854
18	44572898	G	T	18	47046527	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon2:c.G65T:p.G22V;ENSG00000167216:ENST00000356157:exon2:c.G122T:p.G41V;	0.993733916693694	0.866
18	44572899	G	A	18	47046528	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon2:c.65+1G>A;ENST00000356157:exon2:c.122+1G>A)	.	.	0.965239447252702	0.806
18	44572899	G	C	18	47046528	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon2:c.65+1G>C;ENST00000356157:exon2:c.122+1G>C)	.	.	0.923645538223766	0.71
18	44572899	G	T	18	47046528	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon2:c.65+1G>T;ENST00000356157:exon2:c.122+1G>T)	.	.	0.923645538223766	0.728
18	44572900	T	A	18	47046529	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon2:c.65+2T>A;ENST00000356157:exon2:c.122+2T>A)	.	.	0.411847852303189	0.518
18	44572900	T	C	18	47046529	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon2:c.65+2T>C;ENST00000356157:exon2:c.122+2T>C)	.	.	0.290493184915178	0.558
18	44572900	T	G	18	47046529	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon2:c.65+2T>G;ENST00000356157:exon2:c.122+2T>G)	.	.	0.290493184915178	0.564
18	44572901	A	C	18	47046530	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00185884865638373	0.008
18	44572901	A	G	18	47046530	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00185884865638373	0.008
18	44572901	A	T	18	47046530	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00245719096652081	0.01
18	44572902	T	A	18	47046531	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.77993525610891E-5	0.0
18	44572902	T	C	18	47046531	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.77993525610891E-5	0.012
18	44572902	T	G	18	47046531	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.77993525610891E-5	0.012
18	44572903	G	A	18	47046532	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00673819451251216	0.072
18	44572903	G	C	18	47046532	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00630139748104287	0.078
18	44572903	G	T	18	47046532	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00630139748104287	0.072
18	44572904	T	A	18	47046533	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00125351434888014	0.01
18	44572904	T	C	18	47046533	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.09934931150151E-4	0.016
18	44572904	T	G	18	47046533	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.09934931150151E-4	0.016
18	44572905	T	A	18	47046534	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.28102787469058E-5	0.0
18	44572905	T	C	18	47046534	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.06187793851108E-5	0.002
18	44572905	T	G	18	47046534	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.06187793851108E-5	0.002
18	44572906	A	C	18	47046535	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.78929785447708E-5	0.0
18	44572906	A	G	18	47046535	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.78929785447708E-5	0.0
18	44572906	A	T	18	47046535	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.78929785447708E-5	0.0
18	44579239	T	A	18	47052868	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999945867747826	0.968
18	44579239	T	C	18	47052868	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00351669183491728	0.152
18	44579239	T	G	18	47052868	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.993031314554091	0.84
18	44579240	G	A	18	47052869	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.51740024979465E-4	0.03
18	44579240	G	C	18	47052869	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.9199977413451E-4	0.018
18	44579240	G	T	18	47052869	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.10752742004957E-4	0.022
18	44579241	A	C	18	47052870	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.30691470913475E-5	0.006
18	44579241	A	G	18	47052870	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.43180547875571E-4	0.072
18	44579241	A	T	18	47052870	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.3492602009017E-5	0.012
18	44579242	A	C	18	47052871	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.95053418078285E-4	0.218
18	44579242	A	G	18	47052871	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999777975012211	0.938
18	44579242	A	T	18	47052871	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.95053418078285E-4	0.268
18	44579243	A	C	18	47052872	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00314237138550906	0.104
18	44579243	A	G	18	47052872	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999219552598431	0.902
18	44579243	A	T	18	47052872	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00381487822604126	0.128
18	44579244	C	A	18	47052873	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00293253622187778	0.186
18	44579244	C	G	18	47052873	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999961604359789	0.99
18	44579244	C	T	18	47052873	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.9792042500763E-5	0.058
18	44579245	T	A	18	47052874	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999946192383509	0.976
18	44579245	T	C	18	47052874	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.57119050121404E-4	0.03
18	44579245	T	G	18	47052874	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.957985825275089	0.818
18	44579246	G	A	18	47052875	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.27961712749591E-4	0.042
18	44579246	G	C	18	47052875	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.24480215392258E-4	0.092
18	44579246	G	T	18	47052875	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.75578243676329E-4	0.044
18	44579247	C	A	18	47052876	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.89205295950384E-5	0.114
18	44579247	C	G	18	47052876	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.57028453696791E-4	0.056
18	44579247	C	T	18	47052876	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.7544999368769E-4	0.02
18	44579248	C	A	18	47052877	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999795940521992	0.92
18	44579248	C	G	18	47052877	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999963254167314	0.934
18	44579248	C	T	18	47052877	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0829870815535574	0.184
18	44579249	A	C	18	47052878	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.66-2A>C;ENST00000356157:exon3:c.123-2A>C)	.	.	0.999979394981131	0.912
18	44579249	A	G	18	47052878	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.66-2A>G;ENST00000356157:exon3:c.123-2A>G)	.	.	0.999979394981131	0.912
18	44579249	A	T	18	47052878	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.66-2A>T;ENST00000356157:exon3:c.123-2A>T)	.	.	0.999979394981131	0.912
18	44579250	G	A	18	47052879	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.66-1G>A;ENST00000356157:exon3:c.123-1G>A)	.	.	0.999980303772886	0.912
18	44579250	G	C	18	47052879	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.66-1G>C;ENST00000356157:exon3:c.123-1G>C)	.	.	0.999980303772886	0.912
18	44579250	G	T	18	47052879	y	y	splicing	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.66-1G>T;ENST00000356157:exon3:c.123-1G>T)	.	.	0.999980303772886	0.912
18	44579251	G	A	18	47052880	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.G66A:p.G22G;ENSG00000167216:ENST00000356157:exon3:c.G123A:p.G41G;	0.00941615970813978	0.192
18	44579251	G	C	18	47052880	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.G66C:p.G22G;ENSG00000167216:ENST00000356157:exon3:c.G123C:p.G41G;	0.26379801363744	0.484
18	44579251	G	T	18	47052880	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.G66T:p.G22G;ENSG00000167216:ENST00000356157:exon3:c.G123T:p.G41G;	0.554951168243241	0.532
18	44579252	T	A	18	47052881	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.T67A:p.Y23N;ENSG00000167216:ENST00000356157:exon3:c.T124A:p.Y42N;	0.692323621116186	0.434
18	44579252	T	C	18	47052881	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.T67C:p.Y23H;ENSG00000167216:ENST00000356157:exon3:c.T124C:p.Y42H;	0.6053397496871	0.462
18	44579252	T	G	18	47052881	y	y	UTR5	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.T67G:p.Y23D;ENSG00000167216:ENST00000356157:exon3:c.T124G:p.Y42D;	0.610456874709647	0.464
18	44579415	C	A	18	47053044	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon2:c.C71A:p.T24K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.C230A:p.T77K;ENSG00000167216:ENST00000245121:exon2:c.C71A:p.T24K;ENSG00000167216:ENST00000356157:exon3:c.C287A:p.T96K;	4.0470975481463E-4	0.064
18	44579415	C	G	18	47053044	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon2:c.C71G:p.T24R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.C230G:p.T77R;ENSG00000167216:ENST00000245121:exon2:c.C71G:p.T24R;ENSG00000167216:ENST00000356157:exon3:c.C287G:p.T96R;	0.00126760335985665	0.122
18	44579415	C	T	18	47053044	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon2:c.C71T:p.T24I;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.C230T:p.T77I;ENSG00000167216:ENST00000245121:exon2:c.C71T:p.T24I;ENSG00000167216:ENST00000356157:exon3:c.C287T:p.T96I;	0.987623938821305	0.702
18	44579416	A	C	18	47053045	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon2:c.A72C:p.T24T;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.A231C:p.T77T;ENSG00000167216:ENST00000245121:exon2:c.A72C:p.T24T;ENSG00000167216:ENST00000356157:exon3:c.A288C:p.T96T;	0.978133360914443	0.894
18	44579416	A	G	18	47053045	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon2:c.A72G:p.T24T;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.A231G:p.T77T;ENSG00000167216:ENST00000245121:exon2:c.A72G:p.T24T;ENSG00000167216:ENST00000356157:exon3:c.A288G:p.T96T;	0.999256311390817	0.95
18	44579416	A	T	18	47053045	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon2:c.A72T:p.T24T;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.A231T:p.T77T;ENSG00000167216:ENST00000245121:exon2:c.A72T:p.T24T;ENSG00000167216:ENST00000356157:exon3:c.A288T:p.T96T;	0.99939361445489	0.946
18	44579417	G	A	18	47053046	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon2:c.G73A:p.A25T;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.G232A:p.E78K;ENSG00000167216:ENST00000245121:exon2:c.G73A:p.A25T;ENSG00000167216:ENST00000356157:exon3:c.G289A:p.A97T;	0.999970196044916	0.988
18	44579417	G	C	18	47053046	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon2:c.G73C:p.A25P;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon3:c.G232C:p.E78Q;ENSG00000167216:ENST00000245121:exon2:c.G73C:p.A25P;ENSG00000167216:ENST00000356157:exon3:c.G289C:p.A97P;	0.999994666566597	0.998
18	44579417	G	T	18	47053046	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon2:c.G73T:p.A25S;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000585469:exon3:c.G232T:p.E78X;	0.999982954956839	0.966
18	44579418	G	A	18	47053047	y	y	splicing	KATNAL2(NM_031303:exon2:c.73+1G>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.232+1G>A;ENST00000245121:exon2:c.73+1G>A;ENST00000356157:exon3:c.289+1G>A)	.	.	0.999990361384395	0.938
18	44579418	G	C	18	47053047	y	y	splicing	KATNAL2(NM_031303:exon2:c.73+1G>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.232+1G>C;ENST00000245121:exon2:c.73+1G>C;ENST00000356157:exon3:c.289+1G>C)	.	.	0.999990361384395	0.938
18	44579418	G	T	18	47053047	y	y	splicing	KATNAL2(NM_031303:exon2:c.73+1G>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.232+1G>T;ENST00000245121:exon2:c.73+1G>T;ENST00000356157:exon3:c.289+1G>T)	.	.	0.999990361384395	0.938
18	44579419	T	A	18	47053048	y	y	splicing	KATNAL2(NM_031303:exon2:c.73+2T>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.232+2T>A;ENST00000245121:exon2:c.73+2T>A;ENST00000356157:exon3:c.289+2T>A)	.	.	0.999988247793601	0.93
18	44579419	T	C	18	47053048	y	y	splicing	KATNAL2(NM_031303:exon2:c.73+2T>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.232+2T>C;ENST00000245121:exon2:c.73+2T>C;ENST00000356157:exon3:c.289+2T>C)	.	.	0.986061207776931	0.676
18	44579419	T	G	18	47053048	y	y	splicing	KATNAL2(NM_031303:exon2:c.73+2T>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon3:c.232+2T>G;ENST00000245121:exon2:c.73+2T>G;ENST00000356157:exon3:c.289+2T>G)	.	.	0.999983636037506	0.93
18	44579420	A	C	18	47053049	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999929144313963	0.972
18	44579420	A	G	18	47053049	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.997407542369874	0.884
18	44579420	A	T	18	47053049	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999089238935535	0.91
18	44579421	C	A	18	47053050	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.03365443907687E-4	0.006
18	44579421	C	G	18	47053050	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.0604202941899E-5	0.0
18	44579421	C	T	18	47053050	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.45892571546102E-4	0.008
18	44579422	A	C	18	47053051	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.36581638757682E-4	0.02
18	44579422	A	G	18	47053051	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.59354340669554E-4	0.022
18	44579422	A	T	18	47053051	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.13338819942325E-4	0.004
18	44579423	T	A	18	47053052	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0599413974769662	0.284
18	44579423	T	C	18	47053052	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0305743502527136	0.272
18	44579423	T	G	18	47053052	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0049398864708905	0.276
18	44579424	G	A	18	47053053	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.14323901626791E-4	0.014
18	44579424	G	C	18	47053053	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.90604663467127E-4	0.016
18	44579424	G	T	18	47053053	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.09684430426455E-4	0.018
18	44579425	C	A	18	47053054	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.70091518841975E-4	0.018
18	44579425	C	G	18	47053054	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.037816711475E-4	0.0
18	44579425	C	T	18	47053054	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.22084462061927E-4	0.02
18	44580755	G	A	18	47054384	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.74652614094094E-4	0.04
18	44580755	G	C	18	47054384	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.80943763795722E-6	0.048
18	44580755	G	T	18	47054384	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.43408259426758E-5	0.016
18	44580756	T	A	18	47054385	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.794737637284466	0.486
18	44580756	T	C	18	47054385	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0120027867356121	0.236
18	44580756	T	G	18	47054385	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.219067110462932	0.398
18	44580757	T	A	18	47054386	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.936588637893874	0.636
18	44580757	T	C	18	47054386	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00115852758011964	0.116
18	44580757	T	G	18	47054386	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.456866016272998	0.55
18	44580758	T	A	18	47054387	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.898975191189148	0.836
18	44580758	T	C	18	47054387	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00477253884551481	0.116
18	44580758	T	G	18	47054387	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.89894156216106	0.7
18	44580759	T	A	18	47054388	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99990617531113	0.976
18	44580759	T	C	18	47054388	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.90138211991446E-4	0.028
18	44580759	T	G	18	47054388	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0999976664864795	0.412
18	44580760	G	A	18	47054389	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00221692450174759	0.042
18	44580760	G	C	18	47054389	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.13447351668922E-5	0.004
18	44580760	G	T	18	47054389	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.19466933516587E-5	0.0
18	44580761	T	A	18	47054390	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.209154979558125	0.382
18	44580761	T	C	18	47054390	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.54208494024064E-5	0.004
18	44580761	T	G	18	47054390	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.380721964441695	0.46
18	44580762	C	A	18	47054391	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.83812284180429E-4	0.096
18	44580762	C	G	18	47054391	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.54200857972647E-4	0.074
18	44580762	C	T	18	47054391	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.11874297730262E-5	0.004
18	44580763	A	C	18	47054392	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00115919182629346	0.018
18	44580763	A	G	18	47054392	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.81197059160119E-4	0.058
18	44580763	A	T	18	47054392	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00528058787771725	0.05
18	44580764	C	A	18	47054393	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.936311879773149	0.794
18	44580764	C	G	18	47054393	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999410662896139	0.8
18	44580764	C	T	18	47054393	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00347565533226406	0.186
18	44580765	A	C	18	47054394	y	y	splicing	KATNAL2(NM_031303:exon3:c.74-2A>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon3:c.74-2A>C;ENST00000356157:exon4:c.290-2A>C)	.	.	0.999991478261395	0.936
18	44580765	A	G	18	47054394	y	y	splicing	KATNAL2(NM_031303:exon3:c.74-2A>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon3:c.74-2A>G;ENST00000356157:exon4:c.290-2A>G)	.	.	0.999991478261395	0.936
18	44580765	A	T	18	47054394	y	y	splicing	KATNAL2(NM_031303:exon3:c.74-2A>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon3:c.74-2A>T;ENST00000356157:exon4:c.290-2A>T)	.	.	0.999991478261395	0.936
18	44580766	G	A	18	47054395	y	y	splicing	KATNAL2(NM_031303:exon3:c.74-1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon3:c.74-1G>A;ENST00000356157:exon4:c.290-1G>A)	.	.	0.999990928448522	0.938
18	44580766	G	C	18	47054395	y	y	splicing	KATNAL2(NM_031303:exon3:c.74-1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon3:c.74-1G>C;ENST00000356157:exon4:c.290-1G>C)	.	.	0.999990928448522	0.932
18	44580766	G	T	18	47054395	y	y	splicing	KATNAL2(NM_031303:exon3:c.74-1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon3:c.74-1G>T;ENST00000356157:exon4:c.290-1G>T)	.	.	0.999990928448522	0.932
18	44580767	C	A	18	47054396	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.C74A:p.A25E;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon3:c.C74A:p.A25E;ENSG00000167216:ENST00000356157:exon4:c.C290A:p.A97E;	2.76208425942611E-4	0.03
18	44580767	C	G	18	47054396	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.C74G:p.A25G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon3:c.C74G:p.A25G;ENSG00000167216:ENST00000356157:exon4:c.C290G:p.A97G;	0.00174512769889317	0.136
18	44580767	C	T	18	47054396	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.C74T:p.A25V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon3:c.C74T:p.A25V;ENSG00000167216:ENST00000356157:exon4:c.C290T:p.A97V;	0.008746092704597	0.188
18	44580768	A	C	18	47054397	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon3:c.A75C:p.A25A;	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000585469:exon4:c.233-2A>C)	synonymous SNV	ENSG00000167216:ENST00000245121:exon3:c.A75C:p.A25A;ENSG00000167216:ENST00000356157:exon4:c.A291C:p.A97A;	0.00314382711126767	0.022
18	44580768	A	G	18	47054397	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon3:c.A75G:p.A25A;	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000585469:exon4:c.233-2A>G)	synonymous SNV	ENSG00000167216:ENST00000245121:exon3:c.A75G:p.A25A;ENSG00000167216:ENST00000356157:exon4:c.A291G:p.A97A;	0.0059300575124166	0.05
18	44580768	A	T	18	47054397	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon3:c.A75T:p.A25A;	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000585469:exon4:c.233-2A>T)	synonymous SNV	ENSG00000167216:ENST00000245121:exon3:c.A75T:p.A25A;ENSG00000167216:ENST00000356157:exon4:c.A291T:p.A97A;	0.00274306258303304	0.058
18	44580807	A	C	18	47054436	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.A114C:p.R38S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.A270C:p.R90S;ENSG00000167216:ENST00000245121:exon3:c.A114C:p.R38S;ENSG00000167216:ENST00000356157:exon4:c.A330C:p.R110S;	0.00132039376174058	0.0
18	44580807	A	G	18	47054436	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon3:c.A114G:p.R38R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.A270G:p.R90R;ENSG00000167216:ENST00000245121:exon3:c.A114G:p.R38R;ENSG00000167216:ENST00000356157:exon4:c.A330G:p.R110R;	0.00499939531408429	0.028
18	44580807	A	T	18	47054436	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.A114T:p.R38S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.A270T:p.R90S;ENSG00000167216:ENST00000245121:exon3:c.A114T:p.R38S;ENSG00000167216:ENST00000356157:exon4:c.A330T:p.R110S;	0.277838258303911	0.474
18	44580808	A	C	18	47054437	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon3:c.A115C:p.R39R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.A271C:p.R91R;ENSG00000167216:ENST00000245121:exon3:c.A115C:p.R39R;ENSG00000167216:ENST00000356157:exon4:c.A331C:p.R111R;	0.997885059238458	0.984
18	44580808	A	G	18	47054437	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.A115G:p.R39G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.A271G:p.R91G;ENSG00000167216:ENST00000245121:exon3:c.A115G:p.R39G;ENSG00000167216:ENST00000356157:exon4:c.A331G:p.R111G;	0.999844828553916	0.992
18	44580808	A	T	18	47054437	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.A115T:p.R39W;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.A271T:p.R91W;ENSG00000167216:ENST00000245121:exon3:c.A115T:p.R39W;ENSG00000167216:ENST00000356157:exon4:c.A331T:p.R111W;	0.99987900318712	1.0
18	44580809	G	A	18	47054438	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.G116A:p.R39K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.G272A:p.R91K;ENSG00000167216:ENST00000245121:exon3:c.G116A:p.R39K;ENSG00000167216:ENST00000356157:exon4:c.G332A:p.R111K;	0.99999542008046	0.996
18	44580809	G	C	18	47054438	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.G116C:p.R39T;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.G272C:p.R91T;ENSG00000167216:ENST00000245121:exon3:c.G116C:p.R39T;ENSG00000167216:ENST00000356157:exon4:c.G332C:p.R111T;	0.999998511638449	0.996
18	44580809	G	T	18	47054438	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon3:c.G116T:p.R39M;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon4:c.G272T:p.R91M;ENSG00000167216:ENST00000245121:exon3:c.G116T:p.R39M;ENSG00000167216:ENST00000356157:exon4:c.G332T:p.R111M;	0.99998986901139	0.984
18	44580810	G	A	18	47054439	y	y	splicing	KATNAL2(NM_031303:exon3:c.116+1G>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon4:c.272+1G>A;ENST00000245121:exon3:c.116+1G>A;ENST00000356157:exon4:c.332+1G>A)	.	.	0.999988247793601	0.924
18	44580810	G	C	18	47054439	y	y	splicing	KATNAL2(NM_031303:exon3:c.116+1G>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon4:c.272+1G>C;ENST00000245121:exon3:c.116+1G>C;ENST00000356157:exon4:c.332+1G>C)	.	.	0.999988247793601	0.924
18	44580810	G	T	18	47054439	y	y	splicing	KATNAL2(NM_031303:exon3:c.116+1G>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon4:c.272+1G>T;ENST00000245121:exon3:c.116+1G>T;ENST00000356157:exon4:c.332+1G>T)	.	.	0.999988247793601	0.924
18	44580811	T	A	18	47054440	y	y	splicing	KATNAL2(NM_031303:exon3:c.116+2T>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon4:c.272+2T>A;ENST00000245121:exon3:c.116+2T>A;ENST00000356157:exon4:c.332+2T>A)	.	.	0.999992446697775	0.93
18	44580811	T	C	18	47054440	y	y	splicing	KATNAL2(NM_031303:exon3:c.116+2T>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon4:c.272+2T>C;ENST00000245121:exon3:c.116+2T>C;ENST00000356157:exon4:c.332+2T>C)	.	.	0.993808943985639	0.63
18	44580811	T	G	18	47054440	y	y	splicing	KATNAL2(NM_031303:exon3:c.116+2T>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon4:c.272+2T>G;ENST00000245121:exon3:c.116+2T>G;ENST00000356157:exon4:c.332+2T>G)	.	.	0.999992446697775	0.93
18	44580812	A	C	18	47054441	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999945241397943	0.98
18	44580812	A	G	18	47054441	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99496483686169	0.83
18	44580812	A	T	18	47054441	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999612457639055	0.938
18	44580813	A	C	18	47054442	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.815762281883737	0.412
18	44580813	A	G	18	47054442	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.960152815481645	0.506
18	44580813	A	T	18	47054442	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.873680571152815	0.45
18	44580814	A	C	18	47054443	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0208358705526515	0.212
18	44580814	A	G	18	47054443	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0111947181704226	0.074
18	44580814	A	T	18	47054443	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.104524201274909	0.286
18	44580815	G	A	18	47054444	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00786305533746142	0.116
18	44580815	G	C	18	47054444	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00590249048063177	0.158
18	44580815	G	T	18	47054444	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00113957825758972	0.024
18	44580816	T	A	18	47054445	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0301691087231307	0.068
18	44580816	T	C	18	47054445	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00849540297910792	0.046
18	44580816	T	G	18	47054445	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00678333675740581	0.04
18	44580817	G	A	18	47054446	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.25975708057051E-4	0.0
18	44580817	G	C	18	47054446	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.39225175240237E-4	0.004
18	44580817	G	T	18	47054446	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.94431022294832E-4	0.016
18	44584594	T	A	18	47058223	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.863478166811848	0.662
18	44584594	T	C	18	47058223	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0658617842759267	0.272
18	44584594	T	G	18	47058223	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.795978465158015	0.632
18	44584595	C	A	18	47058224	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.121081468658563	0.22
18	44584595	C	G	18	47058224	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0388309310915456	0.096
18	44584595	C	T	18	47058224	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00287532309127865	0.114
18	44584596	C	A	18	47058225	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.87221433193053E-4	0.122
18	44584596	C	G	18	47058225	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.004659832851092	0.114
18	44584596	C	T	18	47058225	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.67983809511498E-5	0.04
18	44584597	C	A	18	47058226	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00128026125777464	0.082
18	44584597	C	G	18	47058226	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00111418274606212	0.09
18	44584597	C	T	18	47058226	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.63787331696427E-5	0.006
18	44584598	T	A	18	47058227	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0041471062947168	0.122
18	44584598	T	C	18	47058227	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.28300906762213E-4	0.014
18	44584598	T	G	18	47058227	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00819002307321398	0.152
18	44584599	C	A	18	47058228	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.15247592483197E-4	0.03
18	44584599	C	G	18	47058228	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.91794091794771E-4	0.012
18	44584599	C	T	18	47058228	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.54841077812892E-5	0.0
18	44584600	C	A	18	47058229	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.014756882630351	0.156
18	44584600	C	G	18	47058229	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0201321413901309	0.13
18	44584600	C	T	18	47058229	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.00444255471381E-4	0.006
18	44584601	C	A	18	47058230	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0333618343327649	0.17
18	44584601	C	G	18	47058230	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0365098660296823	0.16
18	44584601	C	T	18	47058230	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.59975121855427E-5	0.0
18	44584602	T	A	18	47058231	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00126555115254699	0.004
18	44584602	T	C	18	47058231	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.49313730819915E-4	0.002
18	44584602	T	G	18	47058231	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.07125431370044E-4	0.0
18	44584603	T	A	18	47058232	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0704153438633593	0.344
18	44584603	T	C	18	47058232	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0012343823618758	0.01
18	44584603	T	G	18	47058232	y	n	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.965949348686861	0.71
18	44584604	A	C	18	47058233	y	n	splicing	KATNAL2(NM_031303:exon4:c.117-2A>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.273-2A>C;ENST00000245121:exon4:c.117-2A>C;ENST00000356157:exon5:c.333-2A>C)	.	.	0.999993519952936	0.928
18	44584604	A	G	18	47058233	y	n	splicing	KATNAL2(NM_031303:exon4:c.117-2A>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.273-2A>G;ENST00000245121:exon4:c.117-2A>G;ENST00000356157:exon5:c.333-2A>G)	.	.	0.999993519952936	0.928
18	44584604	A	T	18	47058233	y	n	splicing	KATNAL2(NM_031303:exon4:c.117-2A>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.273-2A>T;ENST00000245121:exon4:c.117-2A>T;ENST00000356157:exon5:c.333-2A>T)	.	.	0.999993519952936	0.928
18	44584605	G	A	18	47058234	y	n	splicing	KATNAL2(NM_031303:exon4:c.117-1G>A)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000585469:exon5:c.273-1G>A;ENST00000245121:exon4:c.117-1G>A;ENST00000356157:exon5:c.333-1G>A)	unknown	UNKNOWN	0.999988247793601	0.934
18	44584605	G	C	18	47058234	y	n	splicing	KATNAL2(NM_031303:exon4:c.117-1G>C)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000585469:exon5:c.273-1G>C;ENST00000245121:exon4:c.117-1G>C;ENST00000356157:exon5:c.333-1G>C)	unknown	UNKNOWN	0.999988247793601	0.934
18	44584605	G	T	18	47058234	y	n	splicing	KATNAL2(NM_031303:exon4:c.117-1G>T)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000585469:exon5:c.273-1G>T;ENST00000245121:exon4:c.117-1G>T;ENST00000356157:exon5:c.333-1G>T)	unknown	UNKNOWN	0.999988247793601	0.934
18	44584606	G	A	18	47058235	y	n	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon4:c.G117A:p.R39R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.G273A:p.R91R;ENSG00000167216:ENST00000245121:exon4:c.G117A:p.R39R;ENSG00000167216:ENST00000356157:exon5:c.G333A:p.R111R;	0.0214021316038792	0.3
18	44584606	G	C	18	47058235	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.G117C:p.R39S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.G273C:p.R91S;ENSG00000167216:ENST00000245121:exon4:c.G117C:p.R39S;ENSG00000167216:ENST00000356157:exon5:c.G333C:p.R111S;	0.387582150561058	0.716
18	44584606	G	T	18	47058235	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.G117T:p.R39S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.G273T:p.R91S;ENSG00000167216:ENST00000245121:exon4:c.G117T:p.R39S;ENSG00000167216:ENST00000356157:exon5:c.G333T:p.R111S;	0.927145205228324	0.86
18	44584607	A	C	18	47058236	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.A118C:p.M40L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.A274C:p.M92L;ENSG00000167216:ENST00000245121:exon4:c.A118C:p.M40L;ENSG00000167216:ENST00000356157:exon5:c.A334C:p.M112L;	7.45598525564273E-5	0.0
18	44584607	A	G	18	47058236	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.A118G:p.M40V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.A274G:p.M92V;ENSG00000167216:ENST00000245121:exon4:c.A118G:p.M40V;ENSG00000167216:ENST00000356157:exon5:c.A334G:p.M112V;	7.32935119524806E-5	0.03
18	44584607	A	T	18	47058236	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.A118T:p.M40L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.A274T:p.M92L;ENSG00000167216:ENST00000245121:exon4:c.A118T:p.M40L;ENSG00000167216:ENST00000356157:exon5:c.A334T:p.M112L;	1.18530702376425E-5	0.018
18	44584721	C	A	18	47058350	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.C232A:p.Q78K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.C388A:p.Q130K;ENSG00000167216:ENST00000245121:exon4:c.C232A:p.Q78K;ENSG00000167216:ENST00000356157:exon5:c.C448A:p.Q150K;	0.00388821220600759	0.15
18	44584721	C	G	18	47058350	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.C232G:p.Q78E;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.C388G:p.Q130E;ENSG00000167216:ENST00000245121:exon4:c.C232G:p.Q78E;ENSG00000167216:ENST00000356157:exon5:c.C448G:p.Q150E;	0.0625795130908843	0.144
18	44584721	C	T	18	47058350	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon4:c.C232T:p.Q78X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000585469:exon5:c.C388T:p.Q130X;ENSG00000167216:ENST00000245121:exon4:c.C232T:p.Q78X;ENSG00000167216:ENST00000356157:exon5:c.C448T:p.Q150X;	0.996666314119461	0.826
18	44584722	A	C	18	47058351	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.A233C:p.Q78P;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.A389C:p.Q130P;ENSG00000167216:ENST00000245121:exon4:c.A233C:p.Q78P;ENSG00000167216:ENST00000356157:exon5:c.A449C:p.Q150P;	0.998842065984066	0.99
18	44584722	A	G	18	47058351	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.A233G:p.Q78R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.A389G:p.Q130R;ENSG00000167216:ENST00000245121:exon4:c.A233G:p.Q78R;ENSG00000167216:ENST00000356157:exon5:c.A449G:p.Q150R;	0.999735247834556	0.986
18	44584722	A	T	18	47058351	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.A233T:p.Q78L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.A389T:p.Q130L;ENSG00000167216:ENST00000245121:exon4:c.A233T:p.Q78L;ENSG00000167216:ENST00000356157:exon5:c.A449T:p.Q150L;	0.999756000160129	0.992
18	44584723	G	A	18	47058352	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon4:c.G234A:p.Q78Q;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.G390A:p.Q130Q;ENSG00000167216:ENST00000245121:exon4:c.G234A:p.Q78Q;ENSG00000167216:ENST00000356157:exon5:c.G450A:p.Q150Q;	0.999963091450362	1.0
18	44584723	G	C	18	47058352	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.G234C:p.Q78H;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.G390C:p.Q130H;ENSG00000167216:ENST00000245121:exon4:c.G234C:p.Q78H;ENSG00000167216:ENST00000356157:exon5:c.G450C:p.Q150H;	0.999997305513426	1.0
18	44584723	G	T	18	47058352	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon4:c.G234T:p.Q78H;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon5:c.G390T:p.Q130H;ENSG00000167216:ENST00000245121:exon4:c.G234T:p.Q78H;ENSG00000167216:ENST00000356157:exon5:c.G450T:p.Q150H;	0.999989679766793	0.934
18	44584724	G	A	18	47058353	y	y	splicing	KATNAL2(NM_031303:exon4:c.234+1G>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.390+1G>A;ENST00000245121:exon4:c.234+1G>A;ENST00000356157:exon5:c.450+1G>A;ENST00000588433:exon1:c.119+1G>A)	.	.	0.999986675681007	0.934
18	44584724	G	C	18	47058353	y	y	splicing	KATNAL2(NM_031303:exon4:c.234+1G>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.390+1G>C;ENST00000245121:exon4:c.234+1G>C;ENST00000356157:exon5:c.450+1G>C;ENST00000588433:exon1:c.119+1G>C)	.	.	0.999986675681007	0.934
18	44584724	G	T	18	47058353	y	y	splicing	KATNAL2(NM_031303:exon4:c.234+1G>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.390+1G>T;ENST00000245121:exon4:c.234+1G>T;ENST00000356157:exon5:c.450+1G>T;ENST00000588433:exon1:c.119+1G>T)	.	.	0.999986675681007	0.934
18	44584725	T	A	18	47058354	y	y	splicing	KATNAL2(NM_031303:exon4:c.234+2T>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.390+2T>A;ENST00000245121:exon4:c.234+2T>A;ENST00000356157:exon5:c.450+2T>A;ENST00000588433:exon1:c.119+2T>A)	.	.	0.999989917668626	0.926
18	44584725	T	C	18	47058354	y	y	splicing	KATNAL2(NM_031303:exon4:c.234+2T>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.390+2T>C;ENST00000245121:exon4:c.234+2T>C;ENST00000356157:exon5:c.450+2T>C;ENST00000588433:exon1:c.119+2T>C)	.	.	0.999912237614653	0.9
18	44584725	T	G	18	47058354	y	y	splicing	KATNAL2(NM_031303:exon4:c.234+2T>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon5:c.390+2T>G;ENST00000245121:exon4:c.234+2T>G;ENST00000356157:exon5:c.450+2T>G;ENST00000588433:exon1:c.119+2T>G)	.	.	0.999989917668626	0.926
18	44584726	C	A	18	47058355	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.98865203866877E-4	0.068
18	44584726	C	G	18	47058355	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.25415551968463E-4	0.086
18	44584726	C	T	18	47058355	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.75749313850769E-4	0.024
18	44584727	A	C	18	47058356	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.956080844162734	0.562
18	44584727	A	G	18	47058356	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.895679187574176	0.62
18	44584727	A	T	18	47058356	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.867219541253939	0.566
18	44584728	G	A	18	47058357	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.996937331631833	0.922
18	44584728	G	C	18	47058357	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.992272904591886	0.936
18	44584728	G	T	18	47058357	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99542388945464	0.922
18	44584729	G	A	18	47058358	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.40830411449949E-4	0.0
18	44584729	G	C	18	47058358	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.60307592888033E-4	0.13
18	44584729	G	T	18	47058358	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.41656864408305E-4	0.004
18	44584730	A	C	18	47058359	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.04077035489076E-5	0.002
18	44584730	A	G	18	47058359	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.67150479665658E-4	0.01
18	44584730	A	T	18	47058359	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.55423715301585E-4	0.146
18	44584731	T	A	18	47058360	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.31304308385532E-4	0.034
18	44584731	T	C	18	47058360	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.59520173469488E-4	0.022
18	44584731	T	G	18	47058360	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.70796331768573E-4	0.022
18	44585915	C	A	18	47059544	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.05961491725937E-4	0.024
18	44585915	C	G	18	47059544	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.17476252810664E-5	0.006
18	44585915	C	T	18	47059544	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.5570698627923E-5	0.0
18	44585916	T	A	18	47059545	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0010960898662163	0.172
18	44585916	T	C	18	47059545	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.97681289192885E-4	0.072
18	44585916	T	G	18	47059545	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.29719334550875E-4	0.164
18	44585917	C	A	18	47059546	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00378624782227367	0.148
18	44585917	C	G	18	47059546	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00127180199074858	0.09
18	44585917	C	T	18	47059546	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.47144748204274E-4	0.02
18	44585918	T	A	18	47059547	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.35699271577609E-4	0.088
18	44585918	T	C	18	47059547	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.22719795306433E-4	0.004
18	44585918	T	G	18	47059547	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.29574923943081E-4	0.074
18	44585919	T	A	18	47059548	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.5629116711562E-5	0.052
18	44585919	T	C	18	47059548	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.1891491137318E-5	0.0
18	44585919	T	G	18	47059548	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.07030557884135E-5	0.04
18	44585920	T	A	18	47059549	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.76606868885598E-4	0.088
18	44585920	T	C	18	47059549	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.18035050196643E-5	0.0
18	44585920	T	G	18	47059549	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.13462657839364E-4	0.014
18	44585921	C	A	18	47059550	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.79794848240987E-4	0.126
18	44585921	C	G	18	47059550	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.6941209930695E-4	0.11
18	44585921	C	T	18	47059550	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.59647239360629E-5	0.0
18	44585922	T	A	18	47059551	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.46526491248341E-4	0.076
18	44585922	T	C	18	47059551	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.40693629065912E-5	0.002
18	44585922	T	G	18	47059551	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.59195567041698E-4	0.138
18	44585923	T	A	18	47059552	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.65527291725569E-5	0.0
18	44585923	T	C	18	47059552	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.13590869931352E-5	0.0
18	44585923	T	G	18	47059552	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.65379162702593E-5	0.0
18	44585924	C	A	18	47059553	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.772656325995539	0.424
18	44585924	C	G	18	47059553	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.997773280310193	0.738
18	44585924	C	T	18	47059553	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.02992937009177	0.306
18	44585925	A	C	18	47059554	y	y	splicing	KATNAL2(NM_031303:exon5:c.235-2A>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.391-2A>C;ENST00000245121:exon5:c.235-2A>C;ENST00000356157:exon6:c.451-2A>C;ENST00000588433:exon2:c.120-2A>C)	.	.	0.999972155025474	0.866
18	44585925	A	G	18	47059554	y	y	splicing	KATNAL2(NM_031303:exon5:c.235-2A>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.391-2A>G;ENST00000245121:exon5:c.235-2A>G;ENST00000356157:exon6:c.451-2A>G;ENST00000588433:exon2:c.120-2A>G)	.	.	0.999972155025474	0.866
18	44585925	A	T	18	47059554	y	y	splicing	KATNAL2(NM_031303:exon5:c.235-2A>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.391-2A>T;ENST00000245121:exon5:c.235-2A>T;ENST00000356157:exon6:c.451-2A>T;ENST00000588433:exon2:c.120-2A>T)	.	.	0.999971317418422	0.882
18	44585926	G	A	18	47059555	y	y	splicing	KATNAL2(NM_031303:exon5:c.235-1G>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.391-1G>A;ENST00000245121:exon5:c.235-1G>A;ENST00000356157:exon6:c.451-1G>A;ENST00000588433:exon2:c.120-1G>A)	.	.	0.99996469115006	0.904
18	44585926	G	C	18	47059555	y	y	splicing	KATNAL2(NM_031303:exon5:c.235-1G>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.391-1G>C;ENST00000245121:exon5:c.235-1G>C;ENST00000356157:exon6:c.451-1G>C;ENST00000588433:exon2:c.120-1G>C)	.	.	0.999965722254998	0.884
18	44585926	G	T	18	47059555	y	y	splicing	KATNAL2(NM_031303:exon5:c.235-1G>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.391-1G>T;ENST00000245121:exon5:c.235-1G>T;ENST00000356157:exon6:c.451-1G>T;ENST00000588433:exon2:c.120-1G>T)	.	.	0.999965722254998	0.864
18	44585927	G	A	18	47059556	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.G235A:p.E79K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.G391A:p.E131K;ENSG00000167216:ENST00000245121:exon5:c.G235A:p.E79K;ENSG00000167216:ENST00000356157:exon6:c.G451A:p.E151K;	0.00401505063844205	0.19
18	44585927	G	C	18	47059556	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.G235C:p.E79Q;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.G391C:p.E131Q;ENSG00000167216:ENST00000245121:exon5:c.G235C:p.E79Q;ENSG00000167216:ENST00000356157:exon6:c.G451C:p.E151Q;	0.0119520612413793	0.296
18	44585927	G	T	18	47059556	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon5:c.G235T:p.E79X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000585469:exon6:c.G391T:p.E131X;ENSG00000167216:ENST00000245121:exon5:c.G235T:p.E79X;ENSG00000167216:ENST00000356157:exon6:c.G451T:p.E151X;	0.820419285470057	0.672
18	44585928	A	C	18	47059557	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.A236C:p.E79A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.A392C:p.E131A;ENSG00000167216:ENST00000245121:exon5:c.A236C:p.E79A;ENSG00000167216:ENST00000356157:exon6:c.A452C:p.E151A;	7.54086268337057E-4	0.016
18	44585928	A	G	18	47059557	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.A236G:p.E79G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.A392G:p.E131G;ENSG00000167216:ENST00000245121:exon5:c.A236G:p.E79G;ENSG00000167216:ENST00000356157:exon6:c.A452G:p.E151G;	4.88884831076796E-4	0.02
18	44585928	A	T	18	47059557	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.A236T:p.E79V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.A392T:p.E131V;ENSG00000167216:ENST00000245121:exon5:c.A236T:p.E79V;ENSG00000167216:ENST00000356157:exon6:c.A452T:p.E151V;	4.08045141305918E-4	0.004
18	44586023	A	C	18	47059652	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon5:c.A331C:p.R111R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.A487C:p.R163R;ENSG00000167216:ENST00000245121:exon5:c.A331C:p.R111R;ENSG00000167216:ENST00000356157:exon6:c.A547C:p.R183R;	2.27409308777555E-5	0.006
18	44586023	A	G	18	47059652	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.A331G:p.R111G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.A487G:p.R163G;ENSG00000167216:ENST00000245121:exon5:c.A331G:p.R111G;ENSG00000167216:ENST00000356157:exon6:c.A547G:p.R183G;	6.22777477316864E-5	0.006
18	44586023	A	T	18	47059652	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon5:c.A331T:p.R111X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000585469:exon6:c.A487T:p.R163X;ENSG00000167216:ENST00000245121:exon5:c.A331T:p.R111X;ENSG00000167216:ENST00000356157:exon6:c.A547T:p.R183X;	0.00668901645666421	0.216
18	44586024	G	A	18	47059653	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.G332A:p.R111K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.G488A:p.R163K;ENSG00000167216:ENST00000245121:exon5:c.G332A:p.R111K;ENSG00000167216:ENST00000356157:exon6:c.G548A:p.R183K;	3.82064889979374E-4	0.106
18	44586024	G	C	18	47059653	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.G332C:p.R111T;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.G488C:p.R163T;ENSG00000167216:ENST00000245121:exon5:c.G332C:p.R111T;ENSG00000167216:ENST00000356157:exon6:c.G548C:p.R183T;	1.41282646946141E-4	0.0
18	44586024	G	T	18	47059653	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.G332T:p.R111I;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.G488T:p.R163I;ENSG00000167216:ENST00000245121:exon5:c.G332T:p.R111I;ENSG00000167216:ENST00000356157:exon6:c.G548T:p.R183I;	1.68659143407402E-4	0.016
18	44586025	A	C	18	47059654	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.A333C:p.R111S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.A489C:p.R163S;ENSG00000167216:ENST00000245121:exon5:c.A333C:p.R111S;ENSG00000167216:ENST00000356157:exon6:c.A549C:p.R183S;	4.85331398514838E-5	0.0
18	44586025	A	G	18	47059654	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon5:c.A333G:p.R111R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.A489G:p.R163R;ENSG00000167216:ENST00000245121:exon5:c.A333G:p.R111R;ENSG00000167216:ENST00000356157:exon6:c.A549G:p.R183R;	5.44019233782138E-5	0.032
18	44586025	A	T	18	47059654	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon5:c.A333T:p.R111S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon6:c.A489T:p.R163S;ENSG00000167216:ENST00000245121:exon5:c.A333T:p.R111S;ENSG00000167216:ENST00000356157:exon6:c.A549T:p.R183S;	1.23615877438036E-4	0.034
18	44586026	G	A	18	47059655	y	y	splicing	KATNAL2(NM_031303:exon5:c.333+1G>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.489+1G>A;ENST00000245121:exon5:c.333+1G>A;ENST00000356157:exon6:c.549+1G>A;ENST00000588433:exon2:c.218+1G>A)	.	.	0.999966603939759	0.898
18	44586026	G	C	18	47059655	y	y	splicing	KATNAL2(NM_031303:exon5:c.333+1G>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.489+1G>C;ENST00000245121:exon5:c.333+1G>C;ENST00000356157:exon6:c.549+1G>C;ENST00000588433:exon2:c.218+1G>C)	.	.	0.999962153403958	0.884
18	44586026	G	T	18	47059655	y	y	splicing	KATNAL2(NM_031303:exon5:c.333+1G>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.489+1G>T;ENST00000245121:exon5:c.333+1G>T;ENST00000356157:exon6:c.549+1G>T;ENST00000588433:exon2:c.218+1G>T)	.	.	0.999965722254998	0.872
18	44586027	T	A	18	47059656	y	y	splicing	KATNAL2(NM_031303:exon5:c.333+2T>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.489+2T>A;ENST00000245121:exon5:c.333+2T>A;ENST00000356157:exon6:c.549+2T>A;ENST00000588433:exon2:c.218+2T>A)	.	.	0.999972871252391	0.878
18	44586027	T	C	18	47059656	y	y	splicing	KATNAL2(NM_031303:exon5:c.333+2T>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.489+2T>C;ENST00000245121:exon5:c.333+2T>C;ENST00000356157:exon6:c.549+2T>C;ENST00000588433:exon2:c.218+2T>C)	.	.	0.96870016034936	0.586
18	44586027	T	G	18	47059656	y	y	splicing	KATNAL2(NM_031303:exon5:c.333+2T>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon6:c.489+2T>G;ENST00000245121:exon5:c.333+2T>G;ENST00000356157:exon6:c.549+2T>G;ENST00000588433:exon2:c.218+2T>G)	.	.	0.999972155025474	0.866
18	44586028	A	C	18	47059657	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.997840291123768	0.836
18	44586028	A	G	18	47059657	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0030941339462157	0.26
18	44586028	A	T	18	47059657	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.997341369879935	0.838
18	44586029	A	C	18	47059658	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.797366551925614	0.604
18	44586029	A	G	18	47059658	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.915677626870433	0.7
18	44586029	A	T	18	47059658	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.926701559299536	0.682
18	44586030	G	A	18	47059659	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999983244081834	0.892
18	44586030	G	C	18	47059659	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999983678769271	0.906
18	44586030	G	T	18	47059659	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999961308481032	0.878
18	44586031	T	A	18	47059660	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.917912605603709	0.6
18	44586031	T	C	18	47059660	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.559207512908199	0.524
18	44586031	T	G	18	47059660	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.988499221960989	0.71
18	44586032	G	A	18	47059661	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.44572872751326E-5	0.028
18	44586032	G	C	18	47059661	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.75716121668842E-5	0.076
18	44586032	G	T	18	47059661	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.75716121668842E-5	0.088
18	44586033	A	C	18	47059662	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.40092285192508E-5	0.002
18	44586033	A	G	18	47059662	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.60920053106862E-5	0.002
18	44586033	A	T	18	47059662	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.40092285192508E-5	0.0
18	44589331	C	A	18	47062960	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.78498710227273E-4	0.096
18	44589331	C	G	18	47062960	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.77663335231609E-5	0.018
18	44589331	C	T	18	47062960	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.94777979037645E-5	0.004
18	44589332	C	A	18	47062961	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.42584809458698E-4	0.046
18	44589332	C	G	18	47062961	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.12649366444261E-4	0.008
18	44589332	C	T	18	47062961	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.31383827191691E-5	0.0
18	44589333	T	A	18	47062962	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00662146499162245	0.294
18	44589333	T	C	18	47062962	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.5367956436113E-4	0.05
18	44589333	T	G	18	47062962	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00111160310279308	0.25
18	44589334	C	A	18	47062963	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.26120759930527E-5	0.014
18	44589334	C	G	18	47062963	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.94613071923761E-5	0.01
18	44589334	C	T	18	47062963	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.23279447236286E-5	0.012
18	44589335	C	A	18	47062964	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.29205437358384E-4	0.052
18	44589335	C	G	18	47062964	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.40963055559201E-5	0.062
18	44589335	C	T	18	47062964	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.18600381935991E-5	0.042
18	44589336	C	A	18	47062965	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.05087991928276E-4	0.086
18	44589336	C	G	18	47062965	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.06003580477834E-4	0.058
18	44589336	C	T	18	47062965	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.07650205600346E-5	0.014
18	44589337	T	A	18	47062966	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00886343353324963	0.226
18	44589337	T	C	18	47062966	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.2424083573411E-4	0.046
18	44589337	T	G	18	47062966	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00838628928938561	0.238
18	44589338	T	A	18	47062967	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00320692702845722	0.14
18	44589338	T	C	18	47062967	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.0896814962282E-4	0.0
18	44589338	T	G	18	47062967	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00125846947323917	0.136
18	44589339	T	A	18	47062968	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.27700675612596E-5	0.008
18	44589339	T	C	18	47062968	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.27748609925607E-5	0.0
18	44589339	T	G	18	47062968	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.03804385479707E-5	0.0
18	44589340	C	A	18	47062969	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.142620336859705	0.508
18	44589340	C	G	18	47062969	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.998747491267793	0.926
18	44589340	C	T	18	47062969	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.5506327596446E-4	0.002
18	44589341	A	C	18	47062970	y	y	splicing	KATNAL2(NM_031303:exon6:c.334-2A>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.490-2A>C;ENST00000245121:exon6:c.334-2A>C;ENST00000356157:exon7:c.550-2A>C;ENST00000588433:exon3:c.219-2A>C)	.	.	0.999972155025474	0.87
18	44589341	A	G	18	47062970	y	y	splicing	KATNAL2(NM_031303:exon6:c.334-2A>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.490-2A>G;ENST00000245121:exon6:c.334-2A>G;ENST00000356157:exon7:c.550-2A>G;ENST00000588433:exon3:c.219-2A>G)	.	.	0.999972155025474	0.87
18	44589341	A	T	18	47062970	y	y	splicing	KATNAL2(NM_031303:exon6:c.334-2A>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.490-2A>T;ENST00000245121:exon6:c.334-2A>T;ENST00000356157:exon7:c.550-2A>T;ENST00000588433:exon3:c.219-2A>T)	.	.	0.999971317418422	0.89
18	44589342	G	A	18	47062971	y	y	splicing	KATNAL2(NM_031303:exon6:c.334-1G>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.490-1G>A;ENST00000245121:exon6:c.334-1G>A;ENST00000356157:exon7:c.550-1G>A;ENST00000588433:exon3:c.219-1G>A)	.	.	0.999973328973086	0.908
18	44589342	G	C	18	47062971	y	y	splicing	KATNAL2(NM_031303:exon6:c.334-1G>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.490-1G>C;ENST00000245121:exon6:c.334-1G>C;ENST00000356157:exon7:c.550-1G>C;ENST00000588433:exon3:c.219-1G>C)	.	.	0.999974773836978	0.894
18	44589342	G	T	18	47062971	y	y	splicing	KATNAL2(NM_031303:exon6:c.334-1G>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.490-1G>T;ENST00000245121:exon6:c.334-1G>T;ENST00000356157:exon7:c.550-1G>T;ENST00000588433:exon3:c.219-1G>T)	.	.	0.999973328973086	0.906
18	44589343	G	A	18	47062972	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.G334A:p.G112S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.G490A:p.G164S;ENSG00000167216:ENST00000245121:exon6:c.G334A:p.G112S;ENSG00000167216:ENST00000356157:exon7:c.G550A:p.G184S;	0.0791510259832642	0.284
18	44589343	G	C	18	47062972	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.G334C:p.G112R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.G490C:p.G164R;ENSG00000167216:ENST00000245121:exon6:c.G334C:p.G112R;ENSG00000167216:ENST00000356157:exon7:c.G550C:p.G184R;	0.262845286724231	0.434
18	44589343	G	T	18	47062972	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.G334T:p.G112C;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.G490T:p.G164C;ENSG00000167216:ENST00000245121:exon6:c.G334T:p.G112C;ENSG00000167216:ENST00000356157:exon7:c.G550T:p.G184C;	0.894729155356437	0.752
18	44589344	G	A	18	47062973	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.G335A:p.G112D;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.G491A:p.G164D;ENSG00000167216:ENST00000245121:exon6:c.G335A:p.G112D;ENSG00000167216:ENST00000356157:exon7:c.G551A:p.G184D;	0.00102769575762061	0.05
18	44589344	G	C	18	47062973	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.G335C:p.G112A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.G491C:p.G164A;ENSG00000167216:ENST00000245121:exon6:c.G335C:p.G112A;ENSG00000167216:ENST00000356157:exon7:c.G551C:p.G184A;	8.0369307791806E-4	0.056
18	44589344	G	T	18	47062973	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.G335T:p.G112V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.G491T:p.G164V;ENSG00000167216:ENST00000245121:exon6:c.G335T:p.G112V;ENSG00000167216:ENST00000356157:exon7:c.G551T:p.G184V;	6.18257779360181E-4	0.004
18	44589439	T	A	18	47063068	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.T430A:p.S144T;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.T586A:p.S196T;ENSG00000167216:ENST00000245121:exon6:c.T430A:p.S144T;ENSG00000167216:ENST00000356157:exon7:c.T646A:p.S216T;	7.94051991328712E-4	0.032
18	44589439	T	C	18	47063068	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.T430C:p.S144P;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.T586C:p.S196P;ENSG00000167216:ENST00000245121:exon6:c.T430C:p.S144P;ENSG00000167216:ENST00000356157:exon7:c.T646C:p.S216P;	0.00114088545529956	0.032
18	44589439	T	G	18	47063068	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.T430G:p.S144A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.T586G:p.S196A;ENSG00000167216:ENST00000245121:exon6:c.T430G:p.S144A;ENSG00000167216:ENST00000356157:exon7:c.T646G:p.S216A;	2.20756071445749E-4	0.028
18	44589440	C	A	18	47063069	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon6:c.C431A:p.S144X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000585469:exon7:c.C587A:p.S196X;ENSG00000167216:ENST00000245121:exon6:c.C431A:p.S144X;ENSG00000167216:ENST00000356157:exon7:c.C647A:p.S216X;	0.979571548236422	0.75
18	44589440	C	G	18	47063069	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon6:c.C431G:p.S144X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000585469:exon7:c.C587G:p.S196X;ENSG00000167216:ENST00000245121:exon6:c.C431G:p.S144X;ENSG00000167216:ENST00000356157:exon7:c.C647G:p.S216X;	0.991564859117311	0.958
18	44589440	C	T	18	47063069	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon6:c.C431T:p.S144L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.C587T:p.S196L;ENSG00000167216:ENST00000245121:exon6:c.C431T:p.S144L;ENSG00000167216:ENST00000356157:exon7:c.C647T:p.S216L;	0.992930039166241	0.782
18	44589441	A	C	18	47063070	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon6:c.A432C:p.S144S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.A588C:p.S196S;ENSG00000167216:ENST00000245121:exon6:c.A432C:p.S144S;ENSG00000167216:ENST00000356157:exon7:c.A648C:p.S216S;	9.1799800273611E-5	0.002
18	44589441	A	G	18	47063070	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon6:c.A432G:p.S144S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.A588G:p.S196S;ENSG00000167216:ENST00000245121:exon6:c.A432G:p.S144S;ENSG00000167216:ENST00000356157:exon7:c.A648G:p.S216S;	5.45870694117358E-5	0.032
18	44589441	A	T	18	47063070	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon6:c.A432T:p.S144S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon7:c.A588T:p.S196S;ENSG00000167216:ENST00000245121:exon6:c.A432T:p.S144S;ENSG00000167216:ENST00000356157:exon7:c.A648T:p.S216S;	2.55837423652436E-4	0.034
18	44589442	G	A	18	47063071	y	y	splicing	KATNAL2(NM_031303:exon6:c.432+1G>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.588+1G>A;ENST00000245121:exon6:c.432+1G>A;ENST00000356157:exon7:c.648+1G>A;ENST00000588433:exon3:c.317+1G>A)	.	.	0.999990361384395	0.938
18	44589442	G	C	18	47063071	y	y	splicing	KATNAL2(NM_031303:exon6:c.432+1G>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.588+1G>C;ENST00000245121:exon6:c.432+1G>C;ENST00000356157:exon7:c.648+1G>C;ENST00000588433:exon3:c.317+1G>C)	.	.	0.999990361384395	0.938
18	44589442	G	T	18	47063071	y	y	splicing	KATNAL2(NM_031303:exon6:c.432+1G>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.588+1G>T;ENST00000245121:exon6:c.432+1G>T;ENST00000356157:exon7:c.648+1G>T;ENST00000588433:exon3:c.317+1G>T)	.	.	0.999990361384395	0.938
18	44589443	T	A	18	47063072	y	y	splicing	KATNAL2(NM_031303:exon6:c.432+2T>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.588+2T>A;ENST00000245121:exon6:c.432+2T>A;ENST00000356157:exon7:c.648+2T>A;ENST00000588433:exon3:c.317+2T>A)	.	.	0.999988247793601	0.93
18	44589443	T	C	18	47063072	y	y	splicing	KATNAL2(NM_031303:exon6:c.432+2T>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.588+2T>C;ENST00000245121:exon6:c.432+2T>C;ENST00000356157:exon7:c.648+2T>C;ENST00000588433:exon3:c.317+2T>C)	.	.	0.999134264562125	0.866
18	44589443	T	G	18	47063072	y	y	splicing	KATNAL2(NM_031303:exon6:c.432+2T>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon7:c.588+2T>G;ENST00000245121:exon6:c.432+2T>G;ENST00000356157:exon7:c.648+2T>G;ENST00000588433:exon3:c.317+2T>G)	.	.	0.999988247793601	0.93
18	44589444	A	C	18	47063073	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99988579284774	0.94
18	44589444	A	G	18	47063073	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.18213848807737	0.39
18	44589444	A	T	18	47063073	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999914533434687	0.958
18	44589445	A	C	18	47063074	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999231945470527	0.896
18	44589445	A	G	18	47063074	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99569834661894	0.944
18	44589445	A	T	18	47063074	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.998588458818492	0.948
18	44589446	G	A	18	47063075	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999976008337081	1.0
18	44589446	G	C	18	47063075	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999976008337081	0.992
18	44589446	G	T	18	47063075	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99996655793034	0.992
18	44589447	T	A	18	47063076	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.996446711825437	0.778
18	44589447	T	C	18	47063076	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.992900036727439	0.888
18	44589447	T	G	18	47063076	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.998387154251201	0.944
18	44589448	G	A	18	47063077	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00225606351684828	0.068
18	44589448	G	C	18	47063077	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00409062928811631	0.036
18	44589448	G	T	18	47063077	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0129370853526109	0.054
18	44589449	G	A	18	47063078	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.7713247506175E-5	0.006
18	44589449	G	C	18	47063078	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.37274680182646E-4	0.008
18	44589449	G	T	18	47063078	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.37939842962547E-4	0.004
18	44589643	T	A	18	47063272	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0318067151024325	0.226
18	44589643	T	C	18	47063272	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.09943278920868E-5	0.004
18	44589643	T	G	18	47063272	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0206909354556689	0.172
18	44589644	C	A	18	47063273	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.94279935038955E-4	0.026
18	44589644	C	G	18	47063273	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.55260051541164E-4	0.006
18	44589644	C	T	18	47063273	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.66135916016139E-5	0.0
18	44589645	C	A	18	47063274	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00169103922846565	0.138
18	44589645	C	G	18	47063274	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00300910093115667	0.05
18	44589645	C	T	18	47063274	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.35564971865643E-5	0.014
18	44589646	T	A	18	47063275	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00931806666490299	0.162
18	44589646	T	C	18	47063275	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.58865217872418E-5	0.0
18	44589646	T	G	18	47063275	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00553578472606567	0.112
18	44589647	C	A	18	47063276	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.29388900034705E-4	0.008
18	44589647	C	G	18	47063276	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.50911216871401E-5	0.038
18	44589647	C	T	18	47063276	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.05621476930812E-5	0.0
18	44589648	T	A	18	47063277	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00575839563921561	0.068
18	44589648	T	C	18	47063277	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.60778231244809E-5	0.0
18	44589648	T	G	18	47063277	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00908938984797902	0.09
18	44589649	C	A	18	47063278	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00275755725909386	0.158
18	44589649	C	G	18	47063278	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00323394576145501	0.15
18	44589649	C	T	18	47063278	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.86952510777327E-5	0.004
18	44589650	A	C	18	47063279	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.67360909306886E-5	0.006
18	44589650	A	G	18	47063279	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.52364016058515E-5	0.008
18	44589650	A	T	18	47063279	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.48029644548951E-5	0.0
18	44589651	T	A	18	47063280	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.84865843647025E-5	0.0
18	44589651	T	C	18	47063280	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.08982189175497E-5	0.002
18	44589651	T	G	18	47063280	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.468479610664565	0.53
18	44589652	C	A	18	47063281	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.46248579710245	0.558
18	44589652	C	G	18	47063281	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999833084644803	0.968
18	44589652	C	T	18	47063281	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.95999190362348E-4	0.064
18	44589653	A	C	18	47063282	y	y	splicing	KATNAL2(NM_031303:exon7:c.433-2A>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon8:c.589-2A>C;ENST00000245121:exon7:c.433-2A>C;ENST00000356157:exon8:c.649-2A>C;ENST00000588433:exon4:c.318-2A>C)	.	.	0.99994568797423	0.926
18	44589653	A	G	18	47063282	y	y	splicing	KATNAL2(NM_031303:exon7:c.433-2A>G)	.	.	splicing	ENSG00000167216(ENST00000585469:exon8:c.589-2A>G;ENST00000245121:exon7:c.433-2A>G;ENST00000356157:exon8:c.649-2A>G;ENST00000588433:exon4:c.318-2A>G)	.	.	0.99994568797423	0.926
18	44589653	A	T	18	47063282	y	y	splicing	KATNAL2(NM_031303:exon7:c.433-2A>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon8:c.589-2A>T;ENST00000245121:exon7:c.433-2A>T;ENST00000356157:exon8:c.649-2A>T;ENST00000588433:exon4:c.318-2A>T)	.	.	0.999978952611685	0.928
18	44589654	G	A	18	47063283	y	y	splicing	KATNAL2(NM_031303:exon7:c.433-1G>A)	.	.	splicing	ENSG00000167216(ENST00000585469:exon8:c.589-1G>A;ENST00000245121:exon7:c.433-1G>A;ENST00000356157:exon8:c.649-1G>A;ENST00000588433:exon4:c.318-1G>A)	.	.	0.999990361384395	0.938
18	44589654	G	C	18	47063283	y	y	splicing	KATNAL2(NM_031303:exon7:c.433-1G>C)	.	.	splicing	ENSG00000167216(ENST00000585469:exon8:c.589-1G>C;ENST00000245121:exon7:c.433-1G>C;ENST00000356157:exon8:c.649-1G>C;ENST00000588433:exon4:c.318-1G>C)	.	.	0.999982737877662	0.938
18	44589654	G	T	18	47063283	y	y	splicing	KATNAL2(NM_031303:exon7:c.433-1G>T)	.	.	splicing	ENSG00000167216(ENST00000585469:exon8:c.589-1G>T;ENST00000245121:exon7:c.433-1G>T;ENST00000356157:exon8:c.649-1G>T;ENST00000588433:exon4:c.318-1G>T)	.	.	0.999990361384395	0.938
18	44589655	G	A	18	47063284	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.G433A:p.E145K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.G589A:p.E197K;ENSG00000167216:ENST00000245121:exon7:c.G433A:p.E145K;ENSG00000167216:ENST00000356157:exon8:c.G649A:p.E217K;	0.999679893870858	0.898
18	44589655	G	C	18	47063284	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.G433C:p.E145Q;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.G589C:p.E197Q;ENSG00000167216:ENST00000245121:exon7:c.G433C:p.E145Q;ENSG00000167216:ENST00000356157:exon8:c.G649C:p.E217Q;	0.999186448875008	0.942
18	44589655	G	T	18	47063284	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon7:c.G433T:p.E145X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000585469:exon8:c.G589T:p.E197X;ENSG00000167216:ENST00000245121:exon7:c.G433T:p.E145X;ENSG00000167216:ENST00000356157:exon8:c.G649T:p.E217X;	0.999866288212123	0.986
18	44589656	A	C	18	47063285	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.A434C:p.E145A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.A590C:p.E197A;ENSG00000167216:ENST00000245121:exon7:c.A434C:p.E145A;ENSG00000167216:ENST00000356157:exon8:c.A650C:p.E217A;	0.0248472206393344	0.124
18	44589656	A	G	18	47063285	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.A434G:p.E145G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.A590G:p.E197G;ENSG00000167216:ENST00000245121:exon7:c.A434G:p.E145G;ENSG00000167216:ENST00000356157:exon8:c.A650G:p.E217G;	0.928286593680403	0.728
18	44589656	A	T	18	47063285	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.A434T:p.E145V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.A590T:p.E197V;ENSG00000167216:ENST00000245121:exon7:c.A434T:p.E145V;ENSG00000167216:ENST00000356157:exon8:c.A650T:p.E217V;	0.00465427983552419	0.026
18	44589730	C	A	18	47063359	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon7:c.C508A:p.R170R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.C664A:p.R222R;ENSG00000167216:ENST00000245121:exon7:c.C508A:p.R170R;ENSG00000167216:ENST00000356157:exon8:c.C724A:p.R242R;	0.0151686574017731	0.184
18	44589730	C	G	18	47063359	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.C508G:p.R170G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.C664G:p.R222G;ENSG00000167216:ENST00000245121:exon7:c.C508G:p.R170G;ENSG00000167216:ENST00000356157:exon8:c.C724G:p.R242G;	0.898170072508166	0.66
18	44589730	C	T	18	47063359	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.C508T:p.R170W;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.C664T:p.R222W;ENSG00000167216:ENST00000245121:exon7:c.C508T:p.R170W;ENSG00000167216:ENST00000356157:exon8:c.C724T:p.R242W;	0.999098521576377	0.796
18	44589731	G	A	18	47063360	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.G509A:p.R170Q;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.G665A:p.R222Q;ENSG00000167216:ENST00000245121:exon7:c.G509A:p.R170Q;ENSG00000167216:ENST00000356157:exon8:c.G725A:p.R242Q;	0.371603932961008	0.52
18	44589731	G	C	18	47063360	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.G509C:p.R170P;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.G665C:p.R222P;ENSG00000167216:ENST00000245121:exon7:c.G509C:p.R170P;ENSG00000167216:ENST00000356157:exon8:c.G725C:p.R242P;	0.730493056511265	0.658
18	44589731	G	T	18	47063360	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon7:c.G509T:p.R170L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.G665T:p.R222L;ENSG00000167216:ENST00000245121:exon7:c.G509T:p.R170L;ENSG00000167216:ENST00000356157:exon8:c.G725T:p.R242L;	0.559677803668372	0.62
18	44589732	G	A	18	47063361	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon7:c.G510A:p.R170R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.G666A:p.R222R;ENSG00000167216:ENST00000245121:exon7:c.G510A:p.R170R;ENSG00000167216:ENST00000356157:exon8:c.G726A:p.R242R;	0.999783678202151	0.922
18	44589732	G	C	18	47063361	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon7:c.G510C:p.R170R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.G666C:p.R222R;ENSG00000167216:ENST00000245121:exon7:c.G510C:p.R170R;ENSG00000167216:ENST00000356157:exon8:c.G726C:p.R242R;	0.99997513882159	0.844
18	44589732	G	T	18	47063361	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon7:c.G510T:p.R170R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000585469:exon8:c.G666T:p.R222R;ENSG00000167216:ENST00000245121:exon7:c.G510T:p.R170R;ENSG00000167216:ENST00000356157:exon8:c.G726T:p.R242R;	0.999985280954388	0.922
18	44589733	G	A	18	47063362	y	y	splicing	KATNAL2(NM_031303:exon7:c.510+1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon7:c.510+1G>A;ENST00000356157:exon8:c.726+1G>A;ENST00000588433:exon4:c.395+1G>A)	.	.	0.999990361384395	0.938
18	44589733	G	C	18	47063362	y	y	splicing	KATNAL2(NM_031303:exon7:c.510+1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon7:c.510+1G>C;ENST00000356157:exon8:c.726+1G>C;ENST00000588433:exon4:c.395+1G>C)	.	.	0.999990361384395	0.938
18	44589733	G	T	18	47063362	y	y	splicing	KATNAL2(NM_031303:exon7:c.510+1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon7:c.510+1G>T;ENST00000356157:exon8:c.726+1G>T;ENST00000588433:exon4:c.395+1G>T)	.	.	0.999990361384395	0.938
18	44589734	T	A	18	47063363	y	y	splicing	KATNAL2(NM_031303:exon7:c.510+2T>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon7:c.510+2T>A;ENST00000356157:exon8:c.726+2T>A;ENST00000588433:exon4:c.395+2T>A)	.	.	0.999986607513753	0.916
18	44589734	T	C	18	47063363	y	y	splicing	KATNAL2(NM_031303:exon7:c.510+2T>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon7:c.510+2T>C;ENST00000356157:exon8:c.726+2T>C;ENST00000588433:exon4:c.395+2T>C)	.	.	0.999924295040438	0.884
18	44589734	T	G	18	47063363	y	y	splicing	KATNAL2(NM_031303:exon7:c.510+2T>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon7:c.510+2T>G;ENST00000356157:exon8:c.726+2T>G;ENST00000588433:exon4:c.395+2T>G)	.	.	0.999986607513753	0.916
18	44589735	A	C	18	47063364	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.994414644921693	0.854
18	44589735	A	G	18	47063364	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.933016562720582	0.594
18	44589735	A	T	18	47063364	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99972013458973	0.954
18	44589736	A	C	18	47063365	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.56831799056512	0.394
18	44589736	A	G	18	47063365	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.504538595083872	0.514
18	44589736	A	T	18	47063365	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.201380195283238	0.468
18	44589737	G	A	18	47063366	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999413534608336	0.912
18	44589737	G	C	18	47063366	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999912093079283	0.91
18	44589737	G	T	18	47063366	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.998478095743513	0.818
18	44589738	A	C	18	47063367	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.26618303361995E-5	0.006
18	44589738	A	G	18	47063367	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.5285094139815E-5	0.0
18	44589738	A	T	18	47063367	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.72159660296597E-5	0.0
18	44589739	T	A	18	47063368	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.50838036843479E-5	0.024
18	44589739	T	C	18	47063368	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.50838036843479E-5	0.026
18	44589739	T	G	18	47063368	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.50838036843479E-5	0.026
18	44589740	C	A	18	47063369	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00528296752288745	0.098
18	44589740	C	G	18	47063369	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00528296752288745	0.098
18	44589740	C	T	18	47063369	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00701746919299917	0.098
18	44593380	T	A	18	47067009	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999869385092932	0.95
18	44593380	T	C	18	47067009	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00330667122357388	0.074
18	44593380	T	G	18	47067009	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999841838217861	0.954
18	44593381	G	A	18	47067010	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.521723407965187	0.382
18	44593381	G	C	18	47067010	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.324878633380908	0.44
18	44593381	G	T	18	47067010	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.30935483481851	0.466
18	44593382	T	A	18	47067011	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999809202175655	0.946
18	44593382	T	C	18	47067011	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0242869681660508	0.256
18	44593382	T	G	18	47067011	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.986070740168035	0.828
18	44593383	G	A	18	47067012	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0517721495544131	0.194
18	44593383	G	C	18	47067012	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0295487083131882	0.43
18	44593383	G	T	18	47067012	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0295399820563624	0.346
18	44593384	C	A	18	47067013	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00884670321834786	0.144
18	44593384	C	G	18	47067013	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0107877661740517	0.166
18	44593384	C	T	18	47067013	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.70874964762847E-4	0.052
18	44593385	A	C	18	47067014	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.57199951615046E-5	0.03
18	44593385	A	G	18	47067014	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.01649488629068E-5	0.044
18	44593385	A	T	18	47067014	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.24943309372549E-5	0.1
18	44593386	T	A	18	47067015	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.622387346341002	0.696
18	44593386	T	C	18	47067015	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00123465485424619	0.048
18	44593386	T	G	18	47067015	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999770720498515	0.97
18	44593387	T	A	18	47067016	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999758527656514	0.948
18	44593387	T	C	18	47067016	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.217698574261378	0.342
18	44593387	T	G	18	47067016	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.986130438737515	0.822
18	44593388	G	A	18	47067017	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0132946329262763	0.118
18	44593388	G	C	18	47067017	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0140538049440002	0.134
18	44593388	G	T	18	47067017	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0123081602804015	0.14
18	44593389	C	A	18	47067018	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999037888519987	0.886
18	44593389	C	G	18	47067018	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999189987067155	0.944
18	44593389	C	T	18	47067018	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.216166738951273	0.194
18	44593390	A	C	18	47067019	y	y	splicing	KATNAL2(NM_031303:exon8:c.511-2A>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.511-2A>C;ENST00000356157:exon9:c.727-2A>C)	.	.	0.999926102992308	0.916
18	44593390	A	G	18	47067019	y	y	splicing	KATNAL2(NM_031303:exon8:c.511-2A>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.511-2A>G;ENST00000356157:exon9:c.727-2A>G)	.	.	0.999926102992308	0.916
18	44593390	A	T	18	47067019	y	y	splicing	KATNAL2(NM_031303:exon8:c.511-2A>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.511-2A>T;ENST00000356157:exon9:c.727-2A>T)	.	.	0.999926102992308	0.916
18	44593391	G	A	18	47067020	y	y	splicing	KATNAL2(NM_031303:exon8:c.511-1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.511-1G>A;ENST00000356157:exon9:c.727-1G>A)	.	.	0.999983315092066	0.91
18	44593391	G	C	18	47067020	y	y	splicing	KATNAL2(NM_031303:exon8:c.511-1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.511-1G>C;ENST00000356157:exon9:c.727-1G>C)	.	.	0.999983315092066	0.91
18	44593391	G	T	18	47067020	y	y	splicing	KATNAL2(NM_031303:exon8:c.511-1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.511-1G>T;ENST00000356157:exon9:c.727-1G>T)	.	.	0.999983315092066	0.91
18	44593392	G	A	18	47067021	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.G511A:p.D171N;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G511A:p.D171N;ENSG00000167216:ENST00000356157:exon9:c.G727A:p.D243N;	0.998888855038191	0.89
18	44593392	G	C	18	47067021	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.G511C:p.D171H;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G511C:p.D171H;ENSG00000167216:ENST00000356157:exon9:c.G727C:p.D243H;	0.999835353458722	0.938
18	44593392	G	T	18	47067021	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.G511T:p.D171Y;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G511T:p.D171Y;ENSG00000167216:ENST00000356157:exon9:c.G727T:p.D243Y;	0.999917417219522	0.978
18	44593393	A	C	18	47067022	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.A512C:p.D171A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.A512C:p.D171A;ENSG00000167216:ENST00000356157:exon9:c.A728C:p.D243A;	0.919309802925421	0.838
18	44593393	A	G	18	47067022	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.A512G:p.D171G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.A512G:p.D171G;ENSG00000167216:ENST00000356157:exon9:c.A728G:p.D243G;	0.924340851684007	0.776
18	44593393	A	T	18	47067022	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.A512T:p.D171V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.A512T:p.D171V;ENSG00000167216:ENST00000356157:exon9:c.A728T:p.D243V;	0.887150235812397	0.79
18	44593488	A	C	18	47067117	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon8:c.A607C:p.R203R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.A607C:p.R203R;ENSG00000167216:ENST00000356157:exon9:c.A823C:p.R275R;	1.76618582229152E-5	0.002
18	44593488	A	G	18	47067117	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.A607G:p.R203G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.A607G:p.R203G;ENSG00000167216:ENST00000356157:exon9:c.A823G:p.R275G;	1.81922842949239E-4	0.056
18	44593488	A	T	18	47067117	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.A607T:p.R203W;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.A607T:p.R203W;ENSG00000167216:ENST00000356157:exon9:c.A823T:p.R275W;	3.09151466929996E-4	0.188
18	44593489	G	A	18	47067118	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.G608A:p.R203K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G608A:p.R203K;ENSG00000167216:ENST00000356157:exon9:c.G824A:p.R275K;	9.78993742244522E-5	0.036
18	44593489	G	C	18	47067118	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.G608C:p.R203T;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G608C:p.R203T;ENSG00000167216:ENST00000356157:exon9:c.G824C:p.R275T;	1.7795810795789E-4	0.006
18	44593489	G	T	18	47067118	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.G608T:p.R203M;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G608T:p.R203M;ENSG00000167216:ENST00000356157:exon9:c.G824T:p.R275M;	2.64765757067101E-4	0.016
18	44593490	G	A	18	47067119	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon8:c.G609A:p.R203R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G609A:p.R203R;ENSG00000167216:ENST00000356157:exon9:c.G825A:p.R275R;	0.993706986001426	0.908
18	44593490	G	C	18	47067119	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.G609C:p.R203S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G609C:p.R203S;ENSG00000167216:ENST00000356157:exon9:c.G825C:p.R275S;	0.999860950535444	0.924
18	44593490	G	T	18	47067119	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon8:c.G609T:p.R203S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon8:c.G609T:p.R203S;ENSG00000167216:ENST00000356157:exon9:c.G825T:p.R275S;	0.999702207575925	0.976
18	44593491	G	A	18	47067120	y	y	splicing	KATNAL2(NM_031303:exon8:c.609+1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.609+1G>A;ENST00000356157:exon9:c.825+1G>A)	.	.	0.999962645301161	0.952
18	44593491	G	C	18	47067120	y	y	splicing	KATNAL2(NM_031303:exon8:c.609+1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.609+1G>C;ENST00000356157:exon9:c.825+1G>C)	.	.	0.999962645301161	0.944
18	44593491	G	T	18	47067120	y	y	splicing	KATNAL2(NM_031303:exon8:c.609+1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.609+1G>T;ENST00000356157:exon9:c.825+1G>T)	.	.	0.999962645301161	0.95
18	44593492	T	A	18	47067121	y	y	splicing	KATNAL2(NM_031303:exon8:c.609+2T>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.609+2T>A;ENST00000356157:exon9:c.825+2T>A)	.	.	0.99994568797423	0.93
18	44593492	T	C	18	47067121	y	y	splicing	KATNAL2(NM_031303:exon8:c.609+2T>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.609+2T>C;ENST00000356157:exon9:c.825+2T>C)	.	.	0.999509628187786	0.918
18	44593492	T	G	18	47067121	y	y	splicing	KATNAL2(NM_031303:exon8:c.609+2T>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon8:c.609+2T>G;ENST00000356157:exon9:c.825+2T>G)	.	.	0.99994568797423	0.936
18	44593493	A	C	18	47067122	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.996847813549104	0.808
18	44593493	A	G	18	47067122	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0213341480643847	0.334
18	44593493	A	T	18	47067122	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.992671201048417	0.742
18	44593494	A	C	18	47067123	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.257042561821681	0.41
18	44593494	A	G	18	47067123	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.93266626138244	0.678
18	44593494	A	T	18	47067123	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.459402912865984	0.508
18	44593495	G	A	18	47067124	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999843083058707	0.904
18	44593495	G	C	18	47067124	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99915111094987	0.748
18	44593495	G	T	18	47067124	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999542571537245	0.79
18	44593496	G	A	18	47067125	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.60653907050667E-5	0.0
18	44593496	G	C	18	47067125	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.65783703393327E-5	0.006
18	44593496	G	T	18	47067125	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.4256940155913E-5	0.0
18	44593497	A	C	18	47067126	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.77978745885032E-4	0.002
18	44593497	A	G	18	47067126	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.77978745885032E-4	0.004
18	44593497	A	T	18	47067126	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.05409613745848E-4	0.002
18	44593498	C	A	18	47067127	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.00988253368186E-5	0.012
18	44593498	C	G	18	47067127	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.00988253368186E-5	0.01
18	44593498	C	T	18	47067127	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.00988253368186E-5	0.022
18	44595579	T	A	18	47069208	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0714213902208037	0.344
18	44595579	T	C	18	47069208	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00232259671470751	0.098
18	44595579	T	G	18	47069208	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.027781215684272	0.326
18	44595580	T	A	18	47069209	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999953382772162	0.942
18	44595580	T	C	18	47069209	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00938375709429844	0.184
18	44595580	T	G	18	47069209	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0544276358122831	0.438
18	44595581	G	A	18	47069210	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.38880784854701E-4	0.06
18	44595581	G	C	18	47069210	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.15578884970666E-5	0.016
18	44595581	G	T	18	47069210	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.66724026665879E-5	0.002
18	44595582	T	A	18	47069211	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.58887535263848E-4	0.058
18	44595582	T	C	18	47069211	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.38133902133842E-4	0.0
18	44595582	T	G	18	47069211	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.02073797736371E-4	0.074
18	44595583	T	A	18	47069212	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.82302348917726E-4	0.038
18	44595583	T	C	18	47069212	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.49843660642631E-5	0.002
18	44595583	T	G	18	47069212	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.17982410682698E-4	0.088
18	44595584	T	A	18	47069213	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.63753053176292E-4	0.02
18	44595584	T	C	18	47069213	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.12816406166354E-5	0.002
18	44595584	T	G	18	47069213	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.28473816587977E-5	0.026
18	44595585	C	A	18	47069214	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00180251317002286	0.208
18	44595585	C	G	18	47069214	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00181837382174061	0.22
18	44595585	C	T	18	47069214	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.37487957346489E-5	0.036
18	44595586	C	A	18	47069215	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.47751417160003E-4	0.108
18	44595586	C	G	18	47069215	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00225537455324955	0.204
18	44595586	C	T	18	47069215	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.55908716824608E-5	0.0
18	44595587	T	A	18	47069216	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.48733219829782E-5	0.008
18	44595587	T	C	18	47069216	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.82621982487219E-5	0.024
18	44595587	T	G	18	47069216	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.90267265343793E-5	0.006
18	44595588	T	A	18	47069217	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00864634985798882	0.242
18	44595588	T	C	18	47069217	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.56555034322323E-5	0.01
18	44595588	T	G	18	47069217	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.836788930766395	0.696
18	44595589	A	C	18	47069218	y	y	splicing	KATNAL2(NM_031303:exon9:c.610-2A>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.610-2A>C;ENST00000356157:exon10:c.826-2A>C;ENST00000588433:exon5:c.396-2A>C)	.	.	0.999964896440643	0.934
18	44595589	A	G	18	47069218	y	y	splicing	KATNAL2(NM_031303:exon9:c.610-2A>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.610-2A>G;ENST00000356157:exon10:c.826-2A>G;ENST00000588433:exon5:c.396-2A>G)	.	.	0.999964896440643	0.934
18	44595589	A	T	18	47069218	y	y	splicing	KATNAL2(NM_031303:exon9:c.610-2A>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.610-2A>T;ENST00000356157:exon10:c.826-2A>T;ENST00000588433:exon5:c.396-2A>T)	.	.	0.999946188727699	0.936
18	44595590	G	A	18	47069219	y	y	splicing	KATNAL2(NM_031303:exon9:c.610-1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.610-1G>A;ENST00000356157:exon10:c.826-1G>A;ENST00000588433:exon5:c.396-1G>A)	.	.	0.99995545544995	0.948
18	44595590	G	C	18	47069219	y	y	splicing	KATNAL2(NM_031303:exon9:c.610-1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.610-1G>C;ENST00000356157:exon10:c.826-1G>C;ENST00000588433:exon5:c.396-1G>C)	.	.	0.99995586615188	0.948
18	44595590	G	T	18	47069219	y	y	splicing	KATNAL2(NM_031303:exon9:c.610-1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.610-1G>T;ENST00000356157:exon10:c.826-1G>T;ENST00000588433:exon5:c.396-1G>T)	.	.	0.99995586615188	0.948
18	44595591	T	A	18	47069220	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.T610A:p.Y204N;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon9:c.T610A:p.Y204N;ENSG00000167216:ENST00000356157:exon10:c.T826A:p.Y276N;	0.565936434599917	0.596
18	44595591	T	C	18	47069220	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.T610C:p.Y204H;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon9:c.T610C:p.Y204H;ENSG00000167216:ENST00000356157:exon10:c.T826C:p.Y276H;	0.761217531290081	0.554
18	44595591	T	G	18	47069220	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.T610G:p.Y204D;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon9:c.T610G:p.Y204D;ENSG00000167216:ENST00000356157:exon10:c.T826G:p.Y276D;	0.640554948756522	0.374
18	44595592	A	C	18	47069221	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.A611C:p.Y204S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon9:c.A611C:p.Y204S;ENSG00000167216:ENST00000356157:exon10:c.A827C:p.Y276S;	0.69232102279186	0.574
18	44595592	A	G	18	47069221	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.A611G:p.Y204C;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon9:c.A611G:p.Y204C;ENSG00000167216:ENST00000356157:exon10:c.A827G:p.Y276C;	0.539655246772584	0.46
18	44595592	A	T	18	47069221	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.A611T:p.Y204F;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon9:c.A611T:p.Y204F;ENSG00000167216:ENST00000356157:exon10:c.A827T:p.Y276F;	0.794348636625908	0.676
18	44595652	C	A	18	47069281	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.C671A:p.P224Q;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.C59A:p.P20Q;ENSG00000167216:ENST00000245121:exon9:c.C671A:p.P224Q;ENSG00000167216:ENST00000356157:exon10:c.C887A:p.P296Q;	0.94792087437102	0.808
18	44595652	C	G	18	47069281	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.C671G:p.P224R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.C59G:p.P20R;ENSG00000167216:ENST00000245121:exon9:c.C671G:p.P224R;ENSG00000167216:ENST00000356157:exon10:c.C887G:p.P296R;	0.913661337499788	0.598
18	44595652	C	T	18	47069281	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.C671T:p.P224L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.C59T:p.P20L;ENSG00000167216:ENST00000245121:exon9:c.C671T:p.P224L;ENSG00000167216:ENST00000356157:exon10:c.C887T:p.P296L;	0.99924214073182	0.928
18	44595653	A	C	18	47069282	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon9:c.A672C:p.P224P;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.A60C:p.P20P;ENSG00000167216:ENST00000245121:exon9:c.A672C:p.P224P;ENSG00000167216:ENST00000356157:exon10:c.A888C:p.P296P;	0.993358373691676	0.902
18	44595653	A	G	18	47069282	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon9:c.A672G:p.P224P;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.A60G:p.P20P;ENSG00000167216:ENST00000245121:exon9:c.A672G:p.P224P;ENSG00000167216:ENST00000356157:exon10:c.A888G:p.P296P;	0.995579592055398	0.912
18	44595653	A	T	18	47069282	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon9:c.A672T:p.P224P;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.A60T:p.P20P;ENSG00000167216:ENST00000245121:exon9:c.A672T:p.P224P;ENSG00000167216:ENST00000356157:exon10:c.A888T:p.P296P;	0.996850527277022	0.952
18	44595654	G	A	18	47069283	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.G673A:p.G225S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.G61A:p.G21S;ENSG00000167216:ENST00000245121:exon9:c.G673A:p.G225S;ENSG00000167216:ENST00000356157:exon10:c.G889A:p.G297S;	0.999992790982191	1.0
18	44595654	G	C	18	47069283	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.G673C:p.G225R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.G61C:p.G21R;ENSG00000167216:ENST00000245121:exon9:c.G673C:p.G225R;ENSG00000167216:ENST00000356157:exon10:c.G889C:p.G297R;	0.999997392070649	0.984
18	44595654	G	T	18	47069283	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon9:c.G673T:p.G225C;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon1:c.G61T:p.G21C;ENSG00000167216:ENST00000245121:exon9:c.G673T:p.G225C;ENSG00000167216:ENST00000356157:exon10:c.G889T:p.G297C;	0.999991996085566	1.0
18	44595655	G	A	18	47069284	y	y	splicing	KATNAL2(NM_031303:exon9:c.673+1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.673+1G>A;ENST00000356157:exon10:c.889+1G>A;ENST00000588433:exon5:c.459+1G>A;ENST00000586198:exon1:c.61+1G>A)	.	.	0.999989263107695	0.936
18	44595655	G	C	18	47069284	y	y	splicing	KATNAL2(NM_031303:exon9:c.673+1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.673+1G>C;ENST00000356157:exon10:c.889+1G>C;ENST00000588433:exon5:c.459+1G>C;ENST00000586198:exon1:c.61+1G>C)	.	.	0.999989263107695	0.936
18	44595655	G	T	18	47069284	y	y	splicing	KATNAL2(NM_031303:exon9:c.673+1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.673+1G>T;ENST00000356157:exon10:c.889+1G>T;ENST00000588433:exon5:c.459+1G>T;ENST00000586198:exon1:c.61+1G>T)	.	.	0.999989263107695	0.936
18	44595656	T	A	18	47069285	y	y	splicing	KATNAL2(NM_031303:exon9:c.673+2T>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.673+2T>A;ENST00000356157:exon10:c.889+2T>A;ENST00000588433:exon5:c.459+2T>A;ENST00000586198:exon1:c.61+2T>A)	.	.	0.999988247793601	0.93
18	44595656	T	C	18	47069285	y	y	splicing	KATNAL2(NM_031303:exon9:c.673+2T>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.673+2T>C;ENST00000356157:exon10:c.889+2T>C;ENST00000588433:exon5:c.459+2T>C;ENST00000586198:exon1:c.61+2T>C)	.	.	0.99340600729494	0.65
18	44595656	T	G	18	47069285	y	y	splicing	KATNAL2(NM_031303:exon9:c.673+2T>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon9:c.673+2T>G;ENST00000356157:exon10:c.889+2T>G;ENST00000588433:exon5:c.459+2T>G;ENST00000586198:exon1:c.61+2T>G)	.	.	0.999988247793601	0.93
18	44595657	A	C	18	47069286	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.996351349418564	0.842
18	44595657	A	G	18	47069286	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.406941039234845	0.564
18	44595657	A	T	18	47069286	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999442105141525	0.84
18	44595658	A	C	18	47069287	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0565945820184751	0.36
18	44595658	A	G	18	47069287	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.160665118240728	0.366
18	44595658	A	T	18	47069287	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.232107687196948	0.428
18	44595659	A	C	18	47069288	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.15634939595176E-4	0.01
18	44595659	A	G	18	47069288	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.57383375720622E-5	0.004
18	44595659	A	T	18	47069288	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.14993249034588E-4	0.008
18	44595660	C	A	18	47069289	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.38543744585299E-4	0.008
18	44595660	C	G	18	47069289	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.40048553039492E-5	0.018
18	44595660	C	T	18	47069289	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.56444693547098E-5	0.004
18	44595661	A	C	18	47069290	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.79905459212623E-5	0.002
18	44595661	A	G	18	47069290	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.9823669354739E-5	0.002
18	44595661	A	T	18	47069290	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.5607328762682E-4	0.002
18	44595662	C	A	18	47069291	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.14720235371151E-5	0.0
18	44595662	C	G	18	47069291	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.14720235371151E-5	0.0
18	44595662	C	T	18	47069291	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.3168795677224E-5	0.0
18	44595841	G	A	18	47069470	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.66110327569598E-5	0.018
18	44595841	G	C	18	47069470	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.87683834641291E-5	0.0
18	44595841	G	T	18	47069470	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.21946853154343E-5	0.002
18	44595842	T	A	18	47069471	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00267780537399907	0.188
18	44595842	T	C	18	47069471	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00192865309028286	0.084
18	44595842	T	G	18	47069471	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00290018790825418	0.164
18	44595843	T	A	18	47069472	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.37020538482114E-4	0.032
18	44595843	T	C	18	47069472	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.22705635072155E-5	0.0
18	44595843	T	G	18	47069472	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.41203044485678E-4	0.068
18	44595844	T	A	18	47069473	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00674349871119956	0.192
18	44595844	T	C	18	47069473	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.83989155255929E-4	0.016
18	44595844	T	G	18	47069473	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00305910605153549	0.224
18	44595845	C	A	18	47069474	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.73693615331614E-5	0.012
18	44595845	C	G	18	47069474	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.5843583570575E-5	0.012
18	44595845	C	T	18	47069474	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.70924714498494E-5	0.002
18	44595846	T	A	18	47069475	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0475266867793542	0.342
18	44595846	T	C	18	47069475	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.11760247233801E-4	0.022
18	44595846	T	G	18	47069475	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0273883507050266	0.312
18	44595847	C	A	18	47069476	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.58131810601145E-4	0.192
18	44595847	C	G	18	47069476	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.98787016844466E-4	0.182
18	44595847	C	T	18	47069476	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.18314820634855E-4	0.004
18	44595848	T	A	18	47069477	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00344217277539673	0.244
18	44595848	T	C	18	47069477	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.15335064944606E-4	0.026
18	44595848	T	G	18	47069477	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00426724840912506	0.238
18	44595849	T	A	18	47069478	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00114763754082476	0.068
18	44595849	T	C	18	47069478	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.79083954399216E-4	0.056
18	44595849	T	G	18	47069478	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.61533490121239E-4	0.102
18	44595850	T	A	18	47069479	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00129489796395597	0.128
18	44595850	T	C	18	47069479	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.22722128589639E-5	0.004
18	44595850	T	G	18	47069479	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.748618444806249	0.508
18	44595851	A	C	18	47069480	y	y	splicing	KATNAL2(NM_031303:exon10:c.674-2A>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.674-2A>C;ENST00000356157:exon11:c.890-2A>C;ENST00000588433:exon6:c.460-2A>C;ENST00000586198:exon2:c.62-2A>C)	.	.	0.999955107838025	0.924
18	44595851	A	G	18	47069480	y	y	splicing	KATNAL2(NM_031303:exon10:c.674-2A>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.674-2A>G;ENST00000356157:exon11:c.890-2A>G;ENST00000588433:exon6:c.460-2A>G;ENST00000586198:exon2:c.62-2A>G)	.	.	0.999955107838025	0.924
18	44595851	A	T	18	47069480	y	y	splicing	KATNAL2(NM_031303:exon10:c.674-2A>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.674-2A>T;ENST00000356157:exon11:c.890-2A>T;ENST00000588433:exon6:c.460-2A>T;ENST00000586198:exon2:c.62-2A>T)	.	.	0.999955107838025	0.92
18	44595852	G	A	18	47069481	y	y	splicing	KATNAL2(NM_031303:exon10:c.674-1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.674-1G>A;ENST00000356157:exon11:c.890-1G>A;ENST00000588433:exon6:c.460-1G>A;ENST00000586198:exon2:c.62-1G>A)	.	.	0.999987124402133	0.936
18	44595852	G	C	18	47069481	y	y	splicing	KATNAL2(NM_031303:exon10:c.674-1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.674-1G>C;ENST00000356157:exon11:c.890-1G>C;ENST00000588433:exon6:c.460-1G>C;ENST00000586198:exon2:c.62-1G>C)	.	.	0.999985389474359	0.932
18	44595852	G	T	18	47069481	y	y	splicing	KATNAL2(NM_031303:exon10:c.674-1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.674-1G>T;ENST00000356157:exon11:c.890-1G>T;ENST00000588433:exon6:c.460-1G>T;ENST00000586198:exon2:c.62-1G>T)	.	.	0.999987124402133	0.936
18	44595853	G	A	18	47069482	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon10:c.G674A:p.G225D;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G62A:p.G21D;ENSG00000167216:ENST00000245121:exon10:c.G674A:p.G225D;ENSG00000167216:ENST00000356157:exon11:c.G890A:p.G297D;	0.997061033914365	0.81
18	44595853	G	C	18	47069482	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon10:c.G674C:p.G225A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G62C:p.G21A;ENSG00000167216:ENST00000245121:exon10:c.G674C:p.G225A;ENSG00000167216:ENST00000356157:exon11:c.G890C:p.G297A;	0.998936977432433	0.822
18	44595853	G	T	18	47069482	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon10:c.G674T:p.G225V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G62T:p.G21V;ENSG00000167216:ENST00000245121:exon10:c.G674T:p.G225V;ENSG00000167216:ENST00000356157:exon11:c.G890T:p.G297V;	0.999230386260548	0.8
18	44595854	T	A	18	47069483	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon10:c.T675A:p.G225G;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.T63A:p.G21G;ENSG00000167216:ENST00000245121:exon10:c.T675A:p.G225G;ENSG00000167216:ENST00000356157:exon11:c.T891A:p.G297G;	1.05793143791883E-4	0.0
18	44595854	T	C	18	47069483	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon10:c.T675C:p.G225G;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.T63C:p.G21G;ENSG00000167216:ENST00000245121:exon10:c.T675C:p.G225G;ENSG00000167216:ENST00000356157:exon11:c.T891C:p.G297G;	1.4670483715432E-4	0.006
18	44595854	T	G	18	47069483	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon10:c.T675G:p.G225G;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.T63G:p.G21G;ENSG00000167216:ENST00000245121:exon10:c.T675G:p.G225G;ENSG00000167216:ENST00000356157:exon11:c.T891G:p.G297G;	1.05793143791883E-4	0.004
18	44595969	C	A	18	47069598	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon10:c.C790A:p.R264R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.C178A:p.R60R;ENSG00000167216:ENST00000591522:exon1:c.C13A:p.R5R;ENSG00000167216:ENST00000245121:exon10:c.C790A:p.R264R;ENSG00000167216:ENST00000356157:exon11:c.C1006A:p.R336R;	0.0426558843449491	0.198
18	44595969	C	G	18	47069598	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon10:c.C790G:p.R264G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.C178G:p.R60G;ENSG00000167216:ENST00000591522:exon1:c.C13G:p.R5G;ENSG00000167216:ENST00000245121:exon10:c.C790G:p.R264G;ENSG00000167216:ENST00000356157:exon11:c.C1006G:p.R336G;	0.987471077093592	0.748
18	44595969	C	T	18	47069598	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon10:c.C790T:p.R264W;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.C178T:p.R60W;ENSG00000167216:ENST00000591522:exon1:c.C13T:p.R5W;ENSG00000167216:ENST00000245121:exon10:c.C790T:p.R264W;ENSG00000167216:ENST00000356157:exon11:c.C1006T:p.R336W;	0.999857013999293	0.988
18	44595970	G	A	18	47069599	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon10:c.G791A:p.R264Q;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G179A:p.R60Q;ENSG00000167216:ENST00000591522:exon1:c.G14A:p.R5Q;ENSG00000167216:ENST00000245121:exon10:c.G791A:p.R264Q;ENSG00000167216:ENST00000356157:exon11:c.G1007A:p.R336Q;	0.979057912346748	0.68
18	44595970	G	C	18	47069599	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon10:c.G791C:p.R264P;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G179C:p.R60P;ENSG00000167216:ENST00000591522:exon1:c.G14C:p.R5P;ENSG00000167216:ENST00000245121:exon10:c.G791C:p.R264P;ENSG00000167216:ENST00000356157:exon11:c.G1007C:p.R336P;	0.99196092180829	0.858
18	44595970	G	T	18	47069599	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon10:c.G791T:p.R264L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G179T:p.R60L;ENSG00000167216:ENST00000591522:exon1:c.G14T:p.R5L;ENSG00000167216:ENST00000245121:exon10:c.G791T:p.R264L;ENSG00000167216:ENST00000356157:exon11:c.G1007T:p.R336L;	0.991940765704637	0.86
18	44595971	G	A	18	47069600	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon10:c.G792A:p.R264R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G180A:p.R60R;ENSG00000167216:ENST00000591522:exon1:c.G15A:p.R5R;ENSG00000167216:ENST00000245121:exon10:c.G792A:p.R264R;ENSG00000167216:ENST00000356157:exon11:c.G1008A:p.R336R;	0.999974288006975	0.998
18	44595971	G	C	18	47069600	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon10:c.G792C:p.R264R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G180C:p.R60R;ENSG00000167216:ENST00000591522:exon1:c.G15C:p.R5R;ENSG00000167216:ENST00000245121:exon10:c.G792C:p.R264R;ENSG00000167216:ENST00000356157:exon11:c.G1008C:p.R336R;	0.999985988834336	0.992
18	44595971	G	T	18	47069600	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon10:c.G792T:p.R264R;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon2:c.G180T:p.R60R;ENSG00000167216:ENST00000591522:exon1:c.G15T:p.R5R;ENSG00000167216:ENST00000245121:exon10:c.G792T:p.R264R;ENSG00000167216:ENST00000356157:exon11:c.G1008T:p.R336R;	0.999982815419321	1.0
18	44595972	G	A	18	47069601	y	y	splicing	KATNAL2(NM_031303:exon10:c.792+1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.792+1G>A;ENST00000356157:exon11:c.1008+1G>A;ENST00000588433:exon6:c.578+1G>A;ENST00000586198:exon2:c.180+1G>A;ENST00000591522:exon1:c.15+1G>A)	.	.	0.999989125585301	0.944
18	44595972	G	C	18	47069601	y	y	splicing	KATNAL2(NM_031303:exon10:c.792+1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.792+1G>C;ENST00000356157:exon11:c.1008+1G>C;ENST00000588433:exon6:c.578+1G>C;ENST00000586198:exon2:c.180+1G>C;ENST00000591522:exon1:c.15+1G>C)	.	.	0.999989125585301	0.944
18	44595972	G	T	18	47069601	y	y	splicing	KATNAL2(NM_031303:exon10:c.792+1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.792+1G>T;ENST00000356157:exon11:c.1008+1G>T;ENST00000588433:exon6:c.578+1G>T;ENST00000586198:exon2:c.180+1G>T;ENST00000591522:exon1:c.15+1G>T)	.	.	0.999989125585301	0.944
18	44595973	T	A	18	47069602	y	y	splicing	KATNAL2(NM_031303:exon10:c.792+2T>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.792+2T>A;ENST00000356157:exon11:c.1008+2T>A;ENST00000588433:exon6:c.578+2T>A;ENST00000586198:exon2:c.180+2T>A;ENST00000591522:exon1:c.15+2T>A)	.	.	0.999986741007567	0.946
18	44595973	T	C	18	47069602	y	y	splicing	KATNAL2(NM_031303:exon10:c.792+2T>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.792+2T>C;ENST00000356157:exon11:c.1008+2T>C;ENST00000588433:exon6:c.578+2T>C;ENST00000586198:exon2:c.180+2T>C;ENST00000591522:exon1:c.15+2T>C)	.	.	0.999892396934419	0.89
18	44595973	T	G	18	47069602	y	y	splicing	KATNAL2(NM_031303:exon10:c.792+2T>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon10:c.792+2T>G;ENST00000356157:exon11:c.1008+2T>G;ENST00000588433:exon6:c.578+2T>G;ENST00000586198:exon2:c.180+2T>G;ENST00000591522:exon1:c.15+2T>G)	.	.	0.999986741007567	0.946
18	44595974	A	C	18	47069603	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999327097424031	0.908
18	44595974	A	G	18	47069603	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.984231587016499	0.818
18	44595974	A	T	18	47069603	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999499976905544	0.894
18	44595975	G	A	18	47069604	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.15127930904974E-4	0.098
18	44595975	G	C	18	47069604	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.74404515173527E-4	0.24
18	44595975	G	T	18	47069604	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.59955277263741E-4	0.148
18	44595976	G	A	18	47069605	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999986512707757	0.996
18	44595976	G	C	18	47069605	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999981895245711	0.994
18	44595976	G	T	18	47069605	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999972772352664	0.978
18	44595977	A	C	18	47069606	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.02814612423838E-4	0.054
18	44595977	A	G	18	47069606	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.54957411216203E-4	0.03
18	44595977	A	T	18	47069606	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.37769381789961E-5	0.066
18	44595978	A	C	18	47069607	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.8427234371657E-5	0.0
18	44595978	A	G	18	47069607	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.61464922675008E-5	0.0
18	44595978	A	T	18	47069607	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.94092772707875E-5	0.0
18	44595979	T	A	18	47069608	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.66531676029683E-5	0.002
18	44595979	T	C	18	47069608	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.26723633743943E-5	0.0
18	44595979	T	G	18	47069608	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.26723633743943E-5	0.0
18	44601636	T	A	18	47075265	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00196289053742478	0.118
18	44601636	T	C	18	47075265	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.53318178411617E-5	0.0
18	44601636	T	G	18	47075265	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00179451231245563	0.084
18	44601637	C	A	18	47075266	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00131735762450628	0.054
18	44601637	C	G	18	47075266	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.85844187279482E-4	0.098
18	44601637	C	T	18	47075266	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.27548350319013E-5	0.0
18	44601638	C	A	18	47075267	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0220543242455742	0.126
18	44601638	C	G	18	47075267	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0219970025744211	0.136
18	44601638	C	T	18	47075267	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.04086550474004E-4	0.054
18	44601639	C	A	18	47075268	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00487056281953636	0.08
18	44601639	C	G	18	47075268	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00250709601877973	0.17
18	44601639	C	T	18	47075268	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.34866907636387E-5	0.006
18	44601640	C	A	18	47075269	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00802237350094665	0.042
18	44601640	C	G	18	47075269	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00444668848115455	0.076
18	44601640	C	T	18	47075269	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.17531643181905E-4	0.004
18	44601641	C	A	18	47075270	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0131204955136635	0.154
18	44601641	C	G	18	47075270	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0117026715749878	0.128
18	44601641	C	T	18	47075270	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.81882833811802E-5	0.002
18	44601642	A	C	18	47075271	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.08963578488916E-4	0.014
18	44601642	A	G	18	47075271	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.77294132605806E-5	0.02
18	44601642	A	T	18	47075271	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.18822204226754E-5	0.0
18	44601643	C	A	18	47075272	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.59700748991606E-4	0.072
18	44601643	C	G	18	47075272	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999698317823878	0.944
18	44601643	C	T	18	47075272	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.42386476864543E-5	0.0
18	44601644	C	A	18	47075273	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.86383449505534E-5	0.004
18	44601644	C	G	18	47075273	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.97448691567899E-5	0.0
18	44601644	C	T	18	47075273	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.27053965991429E-4	0.002
18	44601645	C	A	18	47075274	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.892541214084828	0.766
18	44601645	C	G	18	47075274	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999907782051301	0.972
18	44601645	C	T	18	47075274	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00685415301736911	0.062
18	44601646	A	C	18	47075275	y	y	splicing	KATNAL2(NM_031303:exon11:c.793-2A>C)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.52-2A>C;ENST00000245121:exon11:c.793-2A>C;ENST00000356157:exon12:c.1009-2A>C;ENST00000588433:exon7:c.579-2A>C;ENST00000586198:exon3:c.181-2A>C;ENST00000591522:exon2:c.16-2A>C)	.	.	0.999993519952936	0.928
18	44601646	A	G	18	47075275	y	y	splicing	KATNAL2(NM_031303:exon11:c.793-2A>G)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.52-2A>G;ENST00000245121:exon11:c.793-2A>G;ENST00000356157:exon12:c.1009-2A>G;ENST00000588433:exon7:c.579-2A>G;ENST00000586198:exon3:c.181-2A>G;ENST00000591522:exon2:c.16-2A>G)	.	.	0.999993519952936	0.928
18	44601646	A	T	18	47075275	y	y	splicing	KATNAL2(NM_031303:exon11:c.793-2A>T)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.52-2A>T;ENST00000245121:exon11:c.793-2A>T;ENST00000356157:exon12:c.1009-2A>T;ENST00000588433:exon7:c.579-2A>T;ENST00000586198:exon3:c.181-2A>T;ENST00000591522:exon2:c.16-2A>T)	.	.	0.999993519952936	0.928
18	44601647	G	A	18	47075276	y	y	splicing	KATNAL2(NM_031303:exon11:c.793-1G>A)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.52-1G>A;ENST00000245121:exon11:c.793-1G>A;ENST00000356157:exon12:c.1009-1G>A;ENST00000588433:exon7:c.579-1G>A;ENST00000586198:exon3:c.181-1G>A;ENST00000591522:exon2:c.16-1G>A)	.	.	0.999988247793601	0.932
18	44601647	G	C	18	47075276	y	y	splicing	KATNAL2(NM_031303:exon11:c.793-1G>C)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.52-1G>C;ENST00000245121:exon11:c.793-1G>C;ENST00000356157:exon12:c.1009-1G>C;ENST00000588433:exon7:c.579-1G>C;ENST00000586198:exon3:c.181-1G>C;ENST00000591522:exon2:c.16-1G>C)	.	.	0.999988247793601	0.932
18	44601647	G	T	18	47075276	y	y	splicing	KATNAL2(NM_031303:exon11:c.793-1G>T)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.52-1G>T;ENST00000245121:exon11:c.793-1G>T;ENST00000356157:exon12:c.1009-1G>T;ENST00000588433:exon7:c.579-1G>T;ENST00000586198:exon3:c.181-1G>T;ENST00000591522:exon2:c.16-1G>T)	.	.	0.999988247793601	0.932
18	44601648	G	A	18	47075277	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G793A:p.V265M;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G52A:p.V18M;ENSG00000167216:ENST00000586198:exon3:c.G181A:p.V61M;ENSG00000167216:ENST00000591522:exon2:c.G16A:p.V6M;ENSG00000167216:ENST00000245121:exon11:c.G793A:p.V265M;ENSG00000167216:ENST00000356157:exon12:c.G1009A:p.V337M;	0.998140980106306	0.912
18	44601648	G	C	18	47075277	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G793C:p.V265L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G52C:p.V18L;ENSG00000167216:ENST00000586198:exon3:c.G181C:p.V61L;ENSG00000167216:ENST00000591522:exon2:c.G16C:p.V6L;ENSG00000167216:ENST00000245121:exon11:c.G793C:p.V265L;ENSG00000167216:ENST00000356157:exon12:c.G1009C:p.V337L;	0.999780797419225	0.97
18	44601648	G	T	18	47075277	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G793T:p.V265L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G52T:p.V18L;ENSG00000167216:ENST00000586198:exon3:c.G181T:p.V61L;ENSG00000167216:ENST00000591522:exon2:c.G16T:p.V6L;ENSG00000167216:ENST00000245121:exon11:c.G793T:p.V265L;ENSG00000167216:ENST00000356157:exon12:c.G1009T:p.V337L;	0.99987515137106	0.958
18	44601649	T	A	18	47075278	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.T794A:p.V265E;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.T53A:p.V18E;ENSG00000167216:ENST00000586198:exon3:c.T182A:p.V61E;ENSG00000167216:ENST00000591522:exon2:c.T17A:p.V6E;ENSG00000167216:ENST00000245121:exon11:c.T794A:p.V265E;ENSG00000167216:ENST00000356157:exon12:c.T1010A:p.V337E;	0.224730231124683	0.492
18	44601649	T	C	18	47075278	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.T794C:p.V265A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.T53C:p.V18A;ENSG00000167216:ENST00000586198:exon3:c.T182C:p.V61A;ENSG00000167216:ENST00000591522:exon2:c.T17C:p.V6A;ENSG00000167216:ENST00000245121:exon11:c.T794C:p.V265A;ENSG00000167216:ENST00000356157:exon12:c.T1010C:p.V337A;	0.189808235982675	0.46
18	44601649	T	G	18	47075278	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.T794G:p.V265G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.T53G:p.V18G;ENSG00000167216:ENST00000586198:exon3:c.T182G:p.V61G;ENSG00000167216:ENST00000591522:exon2:c.T17G:p.V6G;ENSG00000167216:ENST00000245121:exon11:c.T794G:p.V265G;ENSG00000167216:ENST00000356157:exon12:c.T1010G:p.V337G;	0.218378760608504	0.44
18	44601737	T	A	18	47075366	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon11:c.T882A:p.S294S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.T141A:p.S47S;ENSG00000167216:ENST00000586198:exon3:c.T270A:p.S90S;ENSG00000167216:ENST00000591522:exon2:c.T105A:p.S35S;ENSG00000167216:ENST00000245121:exon11:c.T882A:p.S294S;ENSG00000167216:ENST00000356157:exon12:c.T1098A:p.S366S;	2.42873228059063E-4	0.058
18	44601737	T	C	18	47075366	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon11:c.T882C:p.S294S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.T141C:p.S47S;ENSG00000167216:ENST00000586198:exon3:c.T270C:p.S90S;ENSG00000167216:ENST00000591522:exon2:c.T105C:p.S35S;ENSG00000167216:ENST00000245121:exon11:c.T882C:p.S294S;ENSG00000167216:ENST00000356157:exon12:c.T1098C:p.S366S;	1.43806266988939E-4	0.038
18	44601737	T	G	18	47075366	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon11:c.T882G:p.S294S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.T141G:p.S47S;ENSG00000167216:ENST00000586198:exon3:c.T270G:p.S90S;ENSG00000167216:ENST00000591522:exon2:c.T105G:p.S35S;ENSG00000167216:ENST00000245121:exon11:c.T882G:p.S294S;ENSG00000167216:ENST00000356157:exon12:c.T1098G:p.S366S;	7.18519087987439E-5	0.01
18	44601738	G	A	18	47075367	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G883A:p.G295R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G142A:p.G48R;ENSG00000167216:ENST00000586198:exon3:c.G271A:p.G91R;ENSG00000167216:ENST00000591522:exon2:c.G106A:p.G36R;ENSG00000167216:ENST00000245121:exon11:c.G883A:p.G295R;ENSG00000167216:ENST00000356157:exon12:c.G1099A:p.G367R;	0.842298590088459	0.514
18	44601738	G	C	18	47075367	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G883C:p.G295R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G142C:p.G48R;ENSG00000167216:ENST00000586198:exon3:c.G271C:p.G91R;ENSG00000167216:ENST00000591522:exon2:c.G106C:p.G36R;ENSG00000167216:ENST00000245121:exon11:c.G883C:p.G295R;ENSG00000167216:ENST00000356157:exon12:c.G1099C:p.G367R;	0.958312927462716	0.768
18	44601738	G	T	18	47075367	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G883T:p.G295W;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G142T:p.G48W;ENSG00000167216:ENST00000586198:exon3:c.G271T:p.G91W;ENSG00000167216:ENST00000591522:exon2:c.G106T:p.G36W;ENSG00000167216:ENST00000245121:exon11:c.G883T:p.G295W;ENSG00000167216:ENST00000356157:exon12:c.G1099T:p.G367W;	0.969865140034215	0.638
18	44601739	G	A	18	47075368	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G884A:p.G295E;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G143A:p.G48E;ENSG00000167216:ENST00000586198:exon3:c.G272A:p.G91E;ENSG00000167216:ENST00000591522:exon2:c.G107A:p.G36E;ENSG00000167216:ENST00000245121:exon11:c.G884A:p.G295E;ENSG00000167216:ENST00000356157:exon12:c.G1100A:p.G367E;	0.999996599099568	1.0
18	44601739	G	C	18	47075368	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G884C:p.G295A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G143C:p.G48A;ENSG00000167216:ENST00000586198:exon3:c.G272C:p.G91A;ENSG00000167216:ENST00000591522:exon2:c.G107C:p.G36A;ENSG00000167216:ENST00000245121:exon11:c.G884C:p.G295A;ENSG00000167216:ENST00000356157:exon12:c.G1100C:p.G367A;	0.999996178896518	1.0
18	44601739	G	T	18	47075368	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon11:c.G884T:p.G295V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon4:c.G143T:p.G48V;ENSG00000167216:ENST00000586198:exon3:c.G272T:p.G91V;ENSG00000167216:ENST00000591522:exon2:c.G107T:p.G36V;ENSG00000167216:ENST00000245121:exon11:c.G884T:p.G295V;ENSG00000167216:ENST00000356157:exon12:c.G1100T:p.G367V;	0.999981125994525	1.0
18	44601740	G	A	18	47075369	y	y	splicing	KATNAL2(NM_031303:exon11:c.884+1G>A)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.143+1G>A;ENST00000245121:exon11:c.884+1G>A;ENST00000356157:exon12:c.1100+1G>A;ENST00000588433:exon7:c.670+1G>A;ENST00000586198:exon3:c.272+1G>A;ENST00000591522:exon2:c.107+1G>A)	.	.	0.999986741007567	0.942
18	44601740	G	C	18	47075369	y	y	splicing	KATNAL2(NM_031303:exon11:c.884+1G>C)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.143+1G>C;ENST00000245121:exon11:c.884+1G>C;ENST00000356157:exon12:c.1100+1G>C;ENST00000588433:exon7:c.670+1G>C;ENST00000586198:exon3:c.272+1G>C;ENST00000591522:exon2:c.107+1G>C)	.	.	0.999986741007567	0.942
18	44601740	G	T	18	47075369	y	y	splicing	KATNAL2(NM_031303:exon11:c.884+1G>T)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.143+1G>T;ENST00000245121:exon11:c.884+1G>T;ENST00000356157:exon12:c.1100+1G>T;ENST00000588433:exon7:c.670+1G>T;ENST00000586198:exon3:c.272+1G>T;ENST00000591522:exon2:c.107+1G>T)	.	.	0.999986741007567	0.942
18	44601741	T	A	18	47075370	y	y	splicing	KATNAL2(NM_031303:exon11:c.884+2T>A)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.143+2T>A;ENST00000245121:exon11:c.884+2T>A;ENST00000356157:exon12:c.1100+2T>A;ENST00000588433:exon7:c.670+2T>A;ENST00000586198:exon3:c.272+2T>A;ENST00000591522:exon2:c.107+2T>A)	.	.	0.999992689121502	0.936
18	44601741	T	C	18	47075370	y	y	splicing	KATNAL2(NM_031303:exon11:c.884+2T>C)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.143+2T>C;ENST00000245121:exon11:c.884+2T>C;ENST00000356157:exon12:c.1100+2T>C;ENST00000588433:exon7:c.670+2T>C;ENST00000586198:exon3:c.272+2T>C;ENST00000591522:exon2:c.107+2T>C)	.	.	0.999961541361015	0.884
18	44601741	T	G	18	47075370	y	y	splicing	KATNAL2(NM_031303:exon11:c.884+2T>G)	.	.	splicing	ENSG00000167216(ENST00000592005:exon4:c.143+2T>G;ENST00000245121:exon11:c.884+2T>G;ENST00000356157:exon12:c.1100+2T>G;ENST00000588433:exon7:c.670+2T>G;ENST00000586198:exon3:c.272+2T>G;ENST00000591522:exon2:c.107+2T>G)	.	.	0.999992689121502	0.936
18	44601742	A	C	18	47075371	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999942364633365	0.952
18	44601742	A	G	18	47075371	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999838970756739	0.936
18	44601742	A	T	18	47075371	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999954951571981	0.968
18	44601743	A	C	18	47075372	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99998897883345	0.914
18	44601743	A	G	18	47075372	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999971552664583	0.924
18	44601743	A	T	18	47075372	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999979167603085	0.906
18	44601744	C	A	18	47075373	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.48313370860851E-5	0.004
18	44601744	C	G	18	47075373	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.89017331482076E-5	0.012
18	44601744	C	T	18	47075373	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.39183163238182E-5	0.086
18	44601745	A	C	18	47075374	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.46021414676113E-4	0.032
18	44601745	A	G	18	47075374	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.35667502700864E-4	0.036
18	44601745	A	T	18	47075374	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.19466933516587E-5	0.026
18	44601746	G	A	18	47075375	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0018251313313073	0.026
18	44601746	G	C	18	47075375	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00172459974864369	0.028
18	44601746	G	T	18	47075375	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0078697147514265	0.118
18	44601747	A	C	18	47075376	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.25788296508993E-5	0.0
18	44601747	A	G	18	47075376	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.01466164855514E-5	0.0
18	44601747	A	T	18	47075376	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.13652207370292E-5	0.0
18	44603710	G	A	18	47077339	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.78708164367419E-5	0.0
18	44603710	G	C	18	47077339	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.1001362306622E-6	0.0
18	44603710	G	T	18	47077339	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.55955572115086E-5	0.0
18	44603711	T	A	18	47077340	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.052239816548006	0.448
18	44603711	T	C	18	47077340	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0147174593397953	0.138
18	44603711	T	G	18	47077340	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0171914816503923	0.404
18	44603712	C	A	18	47077341	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.41007043123962E-4	0.022
18	44603712	C	G	18	47077341	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.59923481657364E-4	0.022
18	44603712	C	T	18	47077341	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.41680827537807E-5	0.002
18	44603713	T	A	18	47077342	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.35304304837784E-4	0.042
18	44603713	T	C	18	47077342	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.65189056470984E-5	0.0
18	44603713	T	G	18	47077342	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.30660104032686E-4	0.044
18	44603714	C	A	18	47077343	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00320092229202011	0.062
18	44603714	C	G	18	47077343	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0028118074657918	0.04
18	44603714	C	T	18	47077343	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.8635860588313E-5	0.0
18	44603715	T	A	18	47077344	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0046686007203697	0.044
18	44603715	T	C	18	47077344	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.17214581510146E-4	0.0
18	44603715	T	G	18	47077344	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00580496296063064	0.172
18	44603716	C	A	18	47077345	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0335948815497161	0.36
18	44603716	C	G	18	47077345	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00852762031115289	0.342
18	44603716	C	T	18	47077345	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.40644265416339E-4	0.032
18	44603717	T	A	18	47077346	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.99772233570946	0.824
18	44603717	T	C	18	47077346	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00401789920403657	0.062
18	44603717	T	G	18	47077346	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0639029923765125	0.43
18	44603718	G	A	18	47077347	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.07942637465614E-5	0.002
18	44603718	G	C	18	47077347	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.02684371349511E-5	0.0
18	44603718	G	T	18	47077347	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.07942637465614E-5	0.0
18	44603719	T	A	18	47077348	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00342917422085881	0.078
18	44603719	T	C	18	47077348	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.26474235008713E-4	0.0
18	44603719	T	G	18	47077348	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.88854268203095	0.606
18	44603720	A	C	18	47077349	y	y	splicing	KATNAL2(NM_031303:exon12:c.885-2A>C)	.	.	splicing	ENSG00000167216(ENST00000592005:exon5:c.144-2A>C;ENST00000245121:exon12:c.885-2A>C;ENST00000356157:exon13:c.1101-2A>C;ENST00000588433:exon8:c.671-2A>C;ENST00000586198:exon4:c.273-2A>C;ENST00000591522:exon3:c.108-2A>C)	.	.	0.99994568797423	0.93
18	44603720	A	G	18	47077349	y	y	splicing	KATNAL2(NM_031303:exon12:c.885-2A>G)	.	.	splicing	ENSG00000167216(ENST00000592005:exon5:c.144-2A>G;ENST00000245121:exon12:c.885-2A>G;ENST00000356157:exon13:c.1101-2A>G;ENST00000588433:exon8:c.671-2A>G;ENST00000586198:exon4:c.273-2A>G;ENST00000591522:exon3:c.108-2A>G)	.	.	0.99994568797423	0.93
18	44603720	A	T	18	47077349	y	y	splicing	KATNAL2(NM_031303:exon12:c.885-2A>T)	.	.	splicing	ENSG00000167216(ENST00000592005:exon5:c.144-2A>T;ENST00000245121:exon12:c.885-2A>T;ENST00000356157:exon13:c.1101-2A>T;ENST00000588433:exon8:c.671-2A>T;ENST00000586198:exon4:c.273-2A>T;ENST00000591522:exon3:c.108-2A>T)	.	.	0.99994568797423	0.928
18	44603721	G	A	18	47077350	y	y	splicing	KATNAL2(NM_031303:exon12:c.885-1G>A)	.	.	splicing	ENSG00000167216(ENST00000592005:exon5:c.144-1G>A;ENST00000245121:exon12:c.885-1G>A;ENST00000356157:exon13:c.1101-1G>A;ENST00000588433:exon8:c.671-1G>A;ENST00000586198:exon4:c.273-1G>A;ENST00000591522:exon3:c.108-1G>A)	.	.	0.999990361384395	0.938
18	44603721	G	C	18	47077350	y	y	splicing	KATNAL2(NM_031303:exon12:c.885-1G>C)	.	.	splicing	ENSG00000167216(ENST00000592005:exon5:c.144-1G>C;ENST00000245121:exon12:c.885-1G>C;ENST00000356157:exon13:c.1101-1G>C;ENST00000588433:exon8:c.671-1G>C;ENST00000586198:exon4:c.273-1G>C;ENST00000591522:exon3:c.108-1G>C)	.	.	0.999982737877662	0.938
18	44603721	G	T	18	47077350	y	y	splicing	KATNAL2(NM_031303:exon12:c.885-1G>T)	.	.	splicing	ENSG00000167216(ENST00000592005:exon5:c.144-1G>T;ENST00000245121:exon12:c.885-1G>T;ENST00000356157:exon13:c.1101-1G>T;ENST00000588433:exon8:c.671-1G>T;ENST00000586198:exon4:c.273-1G>T;ENST00000591522:exon3:c.108-1G>T)	.	.	0.999982737877662	0.938
18	44603722	G	A	18	47077351	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon12:c.G885A:p.G295G;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G144A:p.G48G;ENSG00000167216:ENST00000586198:exon4:c.G273A:p.G91G;ENSG00000167216:ENST00000591522:exon3:c.G108A:p.G36G;ENSG00000167216:ENST00000245121:exon12:c.G885A:p.G295G;ENSG00000167216:ENST00000356157:exon13:c.G1101A:p.G367G;	4.14560031905578E-4	0.048
18	44603722	G	C	18	47077351	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon12:c.G885C:p.G295G;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G144C:p.G48G;ENSG00000167216:ENST00000586198:exon4:c.G273C:p.G91G;ENSG00000167216:ENST00000591522:exon3:c.G108C:p.G36G;ENSG00000167216:ENST00000245121:exon12:c.G885C:p.G295G;ENSG00000167216:ENST00000356157:exon13:c.G1101C:p.G367G;	0.00495254826926293	0.178
18	44603722	G	T	18	47077351	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon12:c.G885T:p.G295G;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G144T:p.G48G;ENSG00000167216:ENST00000586198:exon4:c.G273T:p.G91G;ENSG00000167216:ENST00000591522:exon3:c.G108T:p.G36G;ENSG00000167216:ENST00000245121:exon12:c.G885T:p.G295G;ENSG00000167216:ENST00000356157:exon13:c.G1101T:p.G367G;	0.144164812757462	0.468
18	44603723	G	A	18	47077352	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon12:c.G886A:p.G296R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G145A:p.G49R;ENSG00000167216:ENST00000586198:exon4:c.G274A:p.G92R;ENSG00000167216:ENST00000591522:exon3:c.G109A:p.G37R;ENSG00000167216:ENST00000245121:exon12:c.G886A:p.G296R;ENSG00000167216:ENST00000356157:exon13:c.G1102A:p.G368R;	0.983311001924802	0.89
18	44603723	G	C	18	47077352	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon12:c.G886C:p.G296R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G145C:p.G49R;ENSG00000167216:ENST00000586198:exon4:c.G274C:p.G92R;ENSG00000167216:ENST00000591522:exon3:c.G109C:p.G37R;ENSG00000167216:ENST00000245121:exon12:c.G886C:p.G296R;ENSG00000167216:ENST00000356157:exon13:c.G1102C:p.G368R;	0.983311001924802	0.884
18	44603723	G	T	18	47077352	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon12:c.G886T:p.G296X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000592005:exon5:c.G145T:p.G49X;ENSG00000167216:ENST00000586198:exon4:c.G274T:p.G92X;ENSG00000167216:ENST00000591522:exon3:c.G109T:p.G37X;ENSG00000167216:ENST00000245121:exon12:c.G886T:p.G296X;ENSG00000167216:ENST00000356157:exon13:c.G1102T:p.G368X;	0.983090569774748	0.924
18	44603830	G	A	18	47077459	y	n	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon12:c.G993A:p.P331P;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G252A:p.P84P;ENSG00000167216:ENST00000586198:exon4:c.G381A:p.P127P;ENSG00000167216:ENST00000591522:exon3:c.G216A:p.P72P;ENSG00000167216:ENST00000245121:exon12:c.G993A:p.P331P;ENSG00000167216:ENST00000356157:exon13:c.G1209A:p.P403P;	1.39964428272492E-5	0.026
18	44603830	G	C	18	47077459	y	n	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon12:c.G993C:p.P331P;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G252C:p.P84P;ENSG00000167216:ENST00000586198:exon4:c.G381C:p.P127P;ENSG00000167216:ENST00000591522:exon3:c.G216C:p.P72P;ENSG00000167216:ENST00000245121:exon12:c.G993C:p.P331P;ENSG00000167216:ENST00000356157:exon13:c.G1209C:p.P403P;	1.59718530578502E-5	0.048
18	44603830	G	T	18	47077459	y	n	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon12:c.G993T:p.P331P;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G252T:p.P84P;ENSG00000167216:ENST00000586198:exon4:c.G381T:p.P127P;ENSG00000167216:ENST00000591522:exon3:c.G216T:p.P72P;ENSG00000167216:ENST00000245121:exon12:c.G993T:p.P331P;ENSG00000167216:ENST00000356157:exon13:c.G1209T:p.P403P;	5.61946808752018E-5	0.006
18	44603831	T	A	18	47077460	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon12:c.T994A:p.W332R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.T253A:p.C85S;ENSG00000167216:ENST00000586198:exon4:c.T382A:p.W128R;ENSG00000167216:ENST00000591522:exon3:c.T217A:p.C73S;ENSG00000167216:ENST00000245121:exon12:c.T994A:p.W332R;ENSG00000167216:ENST00000356157:exon13:c.T1210A:p.W404R;	0.77676783375624	0.61
18	44603831	T	C	18	47077460	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon12:c.T994C:p.W332R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.T253C:p.C85R;ENSG00000167216:ENST00000586198:exon4:c.T382C:p.W128R;ENSG00000167216:ENST00000591522:exon3:c.T217C:p.C73R;ENSG00000167216:ENST00000245121:exon12:c.T994C:p.W332R;ENSG00000167216:ENST00000356157:exon13:c.T1210C:p.W404R;	0.964593493497034	0.846
18	44603831	T	G	18	47077460	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon12:c.T994G:p.W332G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.T253G:p.C85G;ENSG00000167216:ENST00000586198:exon4:c.T382G:p.W128G;ENSG00000167216:ENST00000591522:exon3:c.T217G:p.C73G;ENSG00000167216:ENST00000245121:exon12:c.T994G:p.W332G;ENSG00000167216:ENST00000356157:exon13:c.T1210G:p.W404G;	0.820951616583033	0.6
18	44603832	G	A	18	47077461	y	n	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon12:c.G995A:p.W332X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000586198:exon4:c.G383A:p.W128X;ENSG00000167216:ENST00000245121:exon12:c.G995A:p.W332X;ENSG00000167216:ENST00000356157:exon13:c.G1211A:p.W404X;	0.999994898086378	1.0
18	44603832	G	C	18	47077461	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon12:c.G995C:p.W332S;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G254C:p.C85S;ENSG00000167216:ENST00000586198:exon4:c.G383C:p.W128S;ENSG00000167216:ENST00000591522:exon3:c.G218C:p.C73S;ENSG00000167216:ENST00000245121:exon12:c.G995C:p.W332S;ENSG00000167216:ENST00000356157:exon13:c.G1211C:p.W404S;	0.999997758162875	0.998
18	44603832	G	T	18	47077461	y	n	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon12:c.G995T:p.W332L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon5:c.G254T:p.C85F;ENSG00000167216:ENST00000586198:exon4:c.G383T:p.W128L;ENSG00000167216:ENST00000591522:exon3:c.G218T:p.C73F;ENSG00000167216:ENST00000245121:exon12:c.G995T:p.W332L;ENSG00000167216:ENST00000356157:exon13:c.G1211T:p.W404L;	0.999988936326623	1.0
18	44603833	G	A	18	47077462	y	n	splicing	KATNAL2(NM_031303:exon12:c.995+1G>A)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000592005:exon5:c.254+1G>A;ENST00000245121:exon12:c.995+1G>A;ENST00000356157:exon13:c.1211+1G>A;ENST00000588433:exon8:c.781+1G>A;ENST00000591522:exon3:c.218+1G>A)	stopgain SNV	ENSG00000167216:ENST00000586198:exon4:c.G384A:p.W128X;	0.999990361384395	0.938
18	44603833	G	C	18	47077462	y	n	splicing	KATNAL2(NM_031303:exon12:c.995+1G>C)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000592005:exon5:c.254+1G>C;ENST00000245121:exon12:c.995+1G>C;ENST00000356157:exon13:c.1211+1G>C;ENST00000588433:exon8:c.781+1G>C;ENST00000591522:exon3:c.218+1G>C)	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon4:c.G384C:p.W128C;	0.999990361384395	0.938
18	44603833	G	T	18	47077462	y	n	splicing	KATNAL2(NM_031303:exon12:c.995+1G>T)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000592005:exon5:c.254+1G>T;ENST00000245121:exon12:c.995+1G>T;ENST00000356157:exon13:c.1211+1G>T;ENST00000588433:exon8:c.781+1G>T;ENST00000591522:exon3:c.218+1G>T)	nonsynonymous SNV	ENSG00000167216:ENST00000586198:exon4:c.G384T:p.W128C;	0.999990361384395	0.938
18	44603834	T	A	18	47077463	y	n	splicing	KATNAL2(NM_031303:exon12:c.995+2T>A)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000592005:exon5:c.254+2T>A;ENST00000245121:exon12:c.995+2T>A;ENST00000356157:exon13:c.1211+2T>A;ENST00000588433:exon8:c.781+2T>A;ENST00000591522:exon3:c.218+2T>A)	stoploss SNV	ENSG00000167216:ENST00000586198:exon4:c.T385A:p.X129K;	0.999955107838025	0.938
18	44603834	T	C	18	47077463	y	n	splicing	KATNAL2(NM_031303:exon12:c.995+2T>C)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000592005:exon5:c.254+2T>C;ENST00000245121:exon12:c.995+2T>C;ENST00000356157:exon13:c.1211+2T>C;ENST00000588433:exon8:c.781+2T>C;ENST00000591522:exon3:c.218+2T>C)	stoploss SNV	ENSG00000167216:ENST00000586198:exon4:c.T385C:p.X129Q;	0.999725857324785	0.916
18	44603834	T	G	18	47077463	y	n	splicing	KATNAL2(NM_031303:exon12:c.995+2T>G)	.	.	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000592005:exon5:c.254+2T>G;ENST00000245121:exon12:c.995+2T>G;ENST00000356157:exon13:c.1211+2T>G;ENST00000588433:exon8:c.781+2T>G;ENST00000591522:exon3:c.218+2T>G)	stoploss SNV	ENSG00000167216:ENST00000586198:exon4:c.T385G:p.X129E;	0.999955107838025	0.94
18	44603835	A	C	18	47077464	y	n	intronic	KATNAL2	.	.	exonic	ENSG00000167216	stoploss SNV	ENSG00000167216:ENST00000586198:exon4:c.A386C:p.X129S;	0.999436269595816	0.902
18	44603835	A	G	18	47077464	y	n	intronic	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon4:c.A386G:p.X129X;	0.708032686617587	0.468
18	44603835	A	T	18	47077464	y	n	intronic	KATNAL2	.	.	exonic	ENSG00000167216	stoploss SNV	ENSG00000167216:ENST00000586198:exon4:c.A386T:p.X129L;	0.999205748180182	0.868
18	44603836	A	C	18	47077465	y	n	intronic	KATNAL2	.	.	exonic	ENSG00000167216	stoploss SNV	ENSG00000167216:ENST00000586198:exon4:c.A387C:p.X129Y;	0.696882938105276	0.648
18	44603836	A	G	18	47077465	y	n	intronic	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000586198:exon4:c.A387G:p.X129X;	0.985297589964336	0.774
18	44603836	A	T	18	47077465	y	n	intronic	KATNAL2	.	.	exonic	ENSG00000167216	stoploss SNV	ENSG00000167216:ENST00000586198:exon4:c.A387T:p.X129Y;	0.964300830260881	0.808
18	44603837	G	A	18	47077466	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	0.999865581179152	0.904
18	44603837	G	C	18	47077466	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	0.999707896820566	0.884
18	44603837	G	T	18	47077466	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	0.999742773575394	0.896
18	44603838	A	C	18	47077467	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	9.54352402549015E-4	0.028
18	44603838	A	G	18	47077467	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	1.30297474761633E-4	0.002
18	44603838	A	T	18	47077467	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	5.15600010912613E-5	0.004
18	44603839	G	A	18	47077468	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	2.42244239821103E-5	0.0
18	44603839	G	C	18	47077468	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	2.12603658812922E-5	0.0
18	44603839	G	T	18	47077468	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	5.09964209791839E-5	0.002
18	44603840	A	C	18	47077469	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	5.31753020862554E-5	0.068
18	44603840	A	G	18	47077469	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	8.92046761234579E-5	0.07
18	44603840	A	T	18	47077469	y	n	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	8.92046761234579E-5	0.068
18	44610691	T	A	18	47084320	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	5.15941453541388E-5	0.004
18	44610691	T	C	18	47084320	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	5.15941453541388E-5	0.004
18	44610691	T	G	18	47084320	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	5.15941453541388E-5	0.004
18	44610692	T	A	18	47084321	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.15267776820636E-5	0.0
18	44610692	T	C	18	47084321	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	6.91564032431422E-5	0.0
18	44610692	T	G	18	47084321	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	6.91564032431422E-5	0.0
18	44610693	C	A	18	47084322	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	7.38258961194127E-5	0.088
18	44610693	C	G	18	47084322	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	7.38258961194127E-5	0.01
18	44610693	C	T	18	47084322	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	5.52086759380612E-5	0.004
18	44610694	T	A	18	47084323	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	8.98234597689351E-4	0.002
18	44610694	T	C	18	47084323	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	4.18414763631825E-4	0.002
18	44610694	T	G	18	47084323	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	4.18414763631825E-4	0.002
18	44610695	T	A	18	47084324	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.96653435898131E-5	0.0
18	44610695	T	C	18	47084324	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.96653435898131E-5	0.0
18	44610695	T	G	18	47084324	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.96653435898131E-5	0.0
18	44610696	T	A	18	47084325	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.15267776820636E-5	0.0
18	44610696	T	C	18	47084325	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.15267776820636E-5	0.0
18	44610696	T	G	18	47084325	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.15267776820636E-5	0.0
18	44610697	C	A	18	47084326	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.41036740142694E-4	0.004
18	44610697	C	G	18	47084326	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.41036740142694E-4	0.004
18	44610697	C	T	18	47084326	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.41036740142694E-4	0.004
18	44610698	C	A	18	47084327	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	0.00150852125214272	0.028
18	44610698	C	G	18	47084327	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	0.00150852125214272	0.028
18	44610698	C	T	18	47084327	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	0.00150852125214272	0.028
18	44610699	A	C	18	47084328	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	4.78674951653264E-5	0.004
18	44610699	A	G	18	47084328	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	4.78674951653264E-5	0.004
18	44610699	A	T	18	47084328	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	4.95905533305893E-5	0.004
18	44610700	T	A	18	47084329	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.6128894829304E-5	0.0
18	44610700	T	C	18	47084329	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.6128894829304E-5	0.0
18	44610700	T	G	18	47084329	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.6128894829304E-5	0.0
18	44610701	A	C	18	47084330	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.255-2A>C)	.	.	8.24824353344448E-5	0.004
18	44610701	A	G	18	47084330	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.255-2A>G)	.	.	8.24824353344448E-5	0.004
18	44610701	A	T	18	47084330	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.255-2A>T)	.	.	8.24824353344448E-5	0.004
18	44610702	G	A	18	47084331	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.255-1G>A)	.	.	3.78864525412067E-5	0.002
18	44610702	G	C	18	47084331	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.255-1G>C)	.	.	2.45277156108894E-5	0.002
18	44610702	G	T	18	47084331	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.255-1G>T)	.	.	3.78864525412067E-5	0.002
18	44610703	T	A	18	47084332	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000592005:exon6:c.T255A:p.C85X;	4.41863113010999E-4	0.032
18	44610703	T	C	18	47084332	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000592005:exon6:c.T255C:p.C85C;	4.41863113010999E-4	0.032
18	44610703	T	G	18	47084332	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon6:c.T255G:p.C85W;	4.41863113010999E-4	0.032
18	44610704	A	C	18	47084333	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon6:c.A256C:p.N86H;	1.4076558401562E-4	0.008
18	44610704	A	G	18	47084333	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon6:c.A256G:p.N86D;	1.4076558401562E-4	0.008
18	44610704	A	T	18	47084333	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000592005:exon6:c.A256T:p.N86Y;	1.4076558401562E-4	0.008
18	44610811	C	A	18	47084440	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	6.89925739660516E-5	0.008
18	44610811	C	G	18	47084440	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	6.89925739660516E-5	0.006
18	44610811	C	T	18	47084440	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	5.15941453541388E-5	0.014
18	44610812	A	C	18	47084441	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	4.95905533305893E-5	0.004
18	44610812	A	G	18	47084441	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	4.95905533305893E-5	0.004
18	44610812	A	T	18	47084441	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	2.72841159385093E-5	0.004
18	44610813	G	A	18	47084442	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	3.39529611572298E-5	0.002
18	44610813	G	C	18	47084442	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	7.44782069694124E-5	0.002
18	44610813	G	T	18	47084442	n	y	intronic	KATNAL2	.	.	ncRNA_UTR3	ENSG00000167216	.	.	3.39529611572298E-5	0.002
18	44610814	G	A	18	47084443	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.365+1G>A)	.	.	3.39529611572298E-5	0.002
18	44610814	G	C	18	47084443	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.365+1G>C)	.	.	3.39529611572298E-5	0.002
18	44610814	G	T	18	47084443	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.365+1G>T)	.	.	3.39529611572298E-5	0.002
18	44610815	T	A	18	47084444	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.365+2T>A)	.	.	3.76020749564062E-5	0.004
18	44610815	T	C	18	47084444	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.365+2T>C)	.	.	3.76020749564062E-5	0.004
18	44610815	T	G	18	47084444	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon6:c.365+2T>G)	.	.	3.76020749564062E-5	0.004
18	44610816	C	A	18	47084445	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	6.91564032431422E-5	0.0
18	44610816	C	G	18	47084445	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	6.91564032431422E-5	0.0
18	44610816	C	T	18	47084445	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	6.91564032431422E-5	0.004
18	44610817	A	C	18	47084446	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	9.63734018024452E-5	0.004
18	44610817	A	G	18	47084446	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	9.63734018024452E-5	0.004
18	44610817	A	T	18	47084446	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	9.63734018024452E-5	0.004
18	44610818	G	A	18	47084447	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.39457982047225E-5	0.0
18	44610818	G	C	18	47084447	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.27663100932972E-5	0.0
18	44610818	G	T	18	47084447	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.27663100932972E-5	0.0
18	44610819	C	A	18	47084448	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.82827935381688E-5	0.004
18	44610819	C	G	18	47084448	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.82827935381688E-5	0.004
18	44610819	C	T	18	47084448	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	2.82827935381688E-5	0.004
18	44610820	A	C	18	47084449	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.25666866588399E-5	0.004
18	44610820	A	G	18	47084449	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.25666866588399E-5	0.004
18	44610820	A	T	18	47084449	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	3.25666866588399E-5	0.004
18	44610821	A	C	18	47084450	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	7.42544334184685E-5	0.094
18	44610821	A	G	18	47084450	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	7.42544334184685E-5	0.03
18	44610821	A	T	18	47084450	n	y	intronic	KATNAL2	.	.	ncRNA_intronic	ENSG00000266957	.	.	5.5529151830241E-5	0.004
18	44624532	C	A	18	47098161	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.11509049728372E-4	0.002
18	44624532	C	G	18	47098161	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.11277587859126E-4	0.002
18	44624532	C	T	18	47098161	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.11509049728372E-4	0.002
18	44624533	T	A	18	47098162	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00236669399226255	0.014
18	44624533	T	C	18	47098162	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00236669399226255	0.012
18	44624533	T	G	18	47098162	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00236669399226255	0.012
18	44624534	T	A	18	47098163	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00236669399226255	0.012
18	44624534	T	C	18	47098163	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00236669399226255	0.01
18	44624534	T	G	18	47098163	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00236669399226255	0.01
18	44624535	T	A	18	47098164	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.76952011413997E-4	0.008
18	44624535	T	C	18	47098164	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.95049156646856E-4	0.008
18	44624535	T	G	18	47098164	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.95049156646856E-4	0.008
18	44624536	T	A	18	47098165	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.54636443065537E-4	0.008
18	44624536	T	C	18	47098165	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.69869282893757E-4	0.014
18	44624536	T	G	18	47098165	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.69869282893757E-4	0.014
18	44624537	A	C	18	47098166	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.3753679937116E-5	0.006
18	44624537	A	G	18	47098166	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.3753679937116E-5	0.004
18	44624537	A	T	18	47098166	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.49490637206397E-5	0.004
18	44624538	T	A	18	47098167	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00223172515695393	0.016
18	44624538	T	C	18	47098167	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00223172515695393	0.016
18	44624538	T	G	18	47098167	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00223172515695393	0.018
18	44624539	A	C	18	47098168	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.09960321947569E-4	0.006
18	44624539	A	G	18	47098168	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.09960321947569E-4	0.006
18	44624539	A	T	18	47098168	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.27947803551497E-4	0.006
18	44624540	T	A	18	47098169	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.34538890915529E-4	0.046
18	44624540	T	C	18	47098169	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.27663618654402E-4	0.008
18	44624540	T	G	18	47098169	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.27663618654402E-4	0.008
18	44624541	T	A	18	47098170	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.27663618654402E-4	0.014
18	44624541	T	C	18	47098170	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.79790150123835E-5	0.006
18	44624541	T	G	18	47098170	n	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.79790150123835E-5	0.006
18	44624542	A	C	18	47098171	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon7:c.366-2A>C;ENST00000591522:exon4:c.219-2A>C)	.	.	4.84767321715395E-5	0.0
18	44624542	A	G	18	47098171	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon7:c.366-2A>G;ENST00000591522:exon4:c.219-2A>G)	.	.	4.84767321715395E-5	0.0
18	44624542	A	T	18	47098171	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon7:c.366-2A>T;ENST00000591522:exon4:c.219-2A>T)	.	.	4.84767321715395E-5	0.0
18	44624543	G	A	18	47098172	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon7:c.366-1G>A;ENST00000591522:exon4:c.219-1G>A)	.	.	2.93008933363103E-5	0.0
18	44624543	G	C	18	47098172	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon7:c.366-1G>C;ENST00000591522:exon4:c.219-1G>C)	.	.	2.82827935381688E-5	0.0
18	44624543	G	T	18	47098172	n	y	intronic	KATNAL2	.	.	splicing	ENSG00000167216(ENST00000592005:exon7:c.366-1G>T;ENST00000591522:exon4:c.219-1G>T)	.	.	2.93008933363103E-5	0.0
18	44624544	C	A	18	47098173	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000591522:exon4:c.C219A:p.C73X;	8.49702646665041E-5	0.02
18	44624544	C	G	18	47098173	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000591522:exon4:c.C219G:p.C73W;	8.49702646665041E-5	0.004
18	44624544	C	T	18	47098173	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000591522:exon4:c.C219T:p.C73C;	6.35428655471156E-5	0.004
18	44624545	T	A	18	47098174	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000591522:exon4:c.T220A:p.L74M;	0.00199590941298324	0.01
18	44624545	T	C	18	47098174	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000591522:exon4:c.T220C:p.L74L;	0.00141933632192121	0.006
18	44624545	T	G	18	47098174	n	y	intronic	KATNAL2	.	.	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000591522:exon4:c.T220G:p.L74V;	0.00141933632192121	0.006
18	44625602	G	A	18	47099231	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.63377788399291E-5	0.004
18	44625602	G	C	18	47099231	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.08332002171532E-5	0.002
18	44625602	G	T	18	47099231	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.20543378537447E-5	0.002
18	44625603	T	A	18	47099232	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999942168897428	0.9
18	44625603	T	C	18	47099232	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0068203861399495	0.14
18	44625603	T	G	18	47099232	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.771529274287886	0.384
18	44625604	G	A	18	47099233	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.99098660402578E-4	0.034
18	44625604	G	C	18	47099233	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.00649305121462E-5	0.002
18	44625604	G	T	18	47099233	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.00649305121462E-5	0.012
18	44625605	T	A	18	47099234	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999910933925315	0.958
18	44625605	T	C	18	47099234	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00211577578479203	0.114
18	44625605	T	G	18	47099234	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.162628347484734	0.41
18	44625606	G	A	18	47099235	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.52042947235126E-5	0.004
18	44625606	G	C	18	47099235	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.14443255838104E-5	0.0
18	44625606	G	T	18	47099235	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.91157645574935E-5	0.0
18	44625607	A	C	18	47099236	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.00684534904205E-5	0.018
18	44625607	A	G	18	47099236	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.94707337415805E-5	0.0
18	44625607	A	T	18	47099236	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.00684534904205E-5	0.02
18	44625608	T	A	18	47099237	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.040183245523585	0.386
18	44625608	T	C	18	47099237	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.73916896727666E-5	0.052
18	44625608	T	G	18	47099237	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999754951634747	0.838
18	44625609	T	A	18	47099238	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.652212031200207	0.54
18	44625609	T	C	18	47099238	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00263129384327323	0.224
18	44625609	T	G	18	47099238	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.737698852635308	0.574
18	44625610	T	A	18	47099239	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.77524932292763E-4	0.02
18	44625610	T	C	18	47099239	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.93199912058812E-4	0.024
18	44625610	T	G	18	47099239	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00367342303279874	0.04
18	44625611	C	A	18	47099240	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.719034706043428	0.614
18	44625611	C	G	18	47099240	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999361856937966	0.856
18	44625611	C	T	18	47099240	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.22499007727327E-4	0.064
18	44625612	A	C	18	47099241	y	y	splicing	KATNAL2(NM_031303:exon13:c.996-2A>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.996-2A>C;ENST00000356157:exon14:c.1212-2A>C;ENST00000588433:exon9:c.782-2A>C)	.	.	0.999989917668626	0.93
18	44625612	A	G	18	47099241	y	y	splicing	KATNAL2(NM_031303:exon13:c.996-2A>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.996-2A>G;ENST00000356157:exon14:c.1212-2A>G;ENST00000588433:exon9:c.782-2A>G)	.	.	0.999989917668626	0.93
18	44625612	A	T	18	47099241	y	y	splicing	KATNAL2(NM_031303:exon13:c.996-2A>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.996-2A>T;ENST00000356157:exon14:c.1212-2A>T;ENST00000588433:exon9:c.782-2A>T)	.	.	0.999989917668626	0.942
18	44625613	G	A	18	47099242	y	y	splicing	KATNAL2(NM_031303:exon13:c.996-1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.996-1G>A;ENST00000356157:exon14:c.1212-1G>A;ENST00000588433:exon9:c.782-1G>A)	.	.	0.999986675681007	0.954
18	44625613	G	C	18	47099242	y	y	splicing	KATNAL2(NM_031303:exon13:c.996-1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.996-1G>C;ENST00000356157:exon14:c.1212-1G>C;ENST00000588433:exon9:c.782-1G>C)	.	.	0.999986675681007	0.954
18	44625613	G	T	18	47099242	y	y	splicing	KATNAL2(NM_031303:exon13:c.996-1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.996-1G>T;ENST00000356157:exon14:c.1212-1G>T;ENST00000588433:exon9:c.782-1G>T)	.	.	0.999986675681007	0.954
18	44625614	G	A	18	47099243	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon13:c.G996A:p.W332X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000245121:exon13:c.G996A:p.W332X;ENSG00000167216:ENST00000356157:exon14:c.G1212A:p.W404X;	0.999862128300549	0.96
18	44625614	G	C	18	47099243	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.G996C:p.W332C;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.G996C:p.W332C;ENSG00000167216:ENST00000356157:exon14:c.G1212C:p.W404C;	0.999581443751332	0.98
18	44625614	G	T	18	47099243	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.G996T:p.W332C;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.G996T:p.W332C;ENSG00000167216:ENST00000356157:exon14:c.G1212T:p.W404C;	0.999814919284606	0.986
18	44625615	G	A	18	47099244	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.G997A:p.E333K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.G997A:p.E333K;ENSG00000167216:ENST00000356157:exon14:c.G1213A:p.E405K;	0.960820570064154	0.912
18	44625615	G	C	18	47099244	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.G997C:p.E333Q;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.G997C:p.E333Q;ENSG00000167216:ENST00000356157:exon14:c.G1213C:p.E405Q;	0.929274447119966	0.802
18	44625615	G	T	18	47099244	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon13:c.G997T:p.E333X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000245121:exon13:c.G997T:p.E333X;ENSG00000167216:ENST00000356157:exon14:c.G1213T:p.E405X;	0.94775411200371	0.856
18	44625774	C	A	18	47099403	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.C1156A:p.Q386K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.C1156A:p.Q386K;ENSG00000167216:ENST00000356157:exon14:c.C1372A:p.Q458K;	0.00167235928475094	0.122
18	44625774	C	G	18	47099403	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.C1156G:p.Q386E;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.C1156G:p.Q386E;ENSG00000167216:ENST00000356157:exon14:c.C1372G:p.Q458E;	6.7991024087424E-4	0.146
18	44625774	C	T	18	47099403	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon13:c.C1156T:p.Q386X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000245121:exon13:c.C1156T:p.Q386X;ENSG00000167216:ENST00000356157:exon14:c.C1372T:p.Q458X;	0.977350286894915	0.83
18	44625775	A	C	18	47099404	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.A1157C:p.Q386P;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.A1157C:p.Q386P;ENSG00000167216:ENST00000356157:exon14:c.A1373C:p.Q458P;	0.987500880555143	0.88
18	44625775	A	G	18	47099404	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.A1157G:p.Q386R;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.A1157G:p.Q386R;ENSG00000167216:ENST00000356157:exon14:c.A1373G:p.Q458R;	0.986587813426572	0.876
18	44625775	A	T	18	47099404	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.A1157T:p.Q386L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.A1157T:p.Q386L;ENSG00000167216:ENST00000356157:exon14:c.A1373T:p.Q458L;	0.996394342795152	0.914
18	44625776	G	A	18	47099405	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon13:c.G1158A:p.Q386Q;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.G1158A:p.Q386Q;ENSG00000167216:ENST00000356157:exon14:c.G1374A:p.Q458Q;	0.999974203430817	0.97
18	44625776	G	C	18	47099405	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.G1158C:p.Q386H;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.G1158C:p.Q386H;ENSG00000167216:ENST00000356157:exon14:c.G1374C:p.Q458H;	0.99999788250985	0.998
18	44625776	G	T	18	47099405	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon13:c.G1158T:p.Q386H;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon13:c.G1158T:p.Q386H;ENSG00000167216:ENST00000356157:exon14:c.G1374T:p.Q458H;	0.999993720315048	0.998
18	44625777	G	A	18	47099406	y	y	splicing	KATNAL2(NM_031303:exon13:c.1158+1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.1158+1G>A;ENST00000356157:exon14:c.1374+1G>A;ENST00000588433:exon9:c.944+1G>A)	.	.	0.999986675681007	0.952
18	44625777	G	C	18	47099406	y	y	splicing	KATNAL2(NM_031303:exon13:c.1158+1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.1158+1G>C;ENST00000356157:exon14:c.1374+1G>C;ENST00000588433:exon9:c.944+1G>C)	.	.	0.999986675681007	0.952
18	44625777	G	T	18	47099406	y	y	splicing	KATNAL2(NM_031303:exon13:c.1158+1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.1158+1G>T;ENST00000356157:exon14:c.1374+1G>T;ENST00000588433:exon9:c.944+1G>T)	.	.	0.999986675681007	0.952
18	44625778	T	A	18	47099407	y	y	splicing	KATNAL2(NM_031303:exon13:c.1158+2T>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.1158+2T>A;ENST00000356157:exon14:c.1374+2T>A;ENST00000588433:exon9:c.944+2T>A)	.	.	0.999981808176352	0.938
18	44625778	T	C	18	47099407	y	y	splicing	KATNAL2(NM_031303:exon13:c.1158+2T>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.1158+2T>C;ENST00000356157:exon14:c.1374+2T>C;ENST00000588433:exon9:c.944+2T>C)	.	.	0.999809036313279	0.896
18	44625778	T	G	18	47099407	y	y	splicing	KATNAL2(NM_031303:exon13:c.1158+2T>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon13:c.1158+2T>G;ENST00000356157:exon14:c.1374+2T>G;ENST00000588433:exon9:c.944+2T>G)	.	.	0.999981808176352	0.938
18	44625779	C	A	18	47099408	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.18999945023955E-4	0.028
18	44625779	C	G	18	47099408	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.78389075073014E-4	0.054
18	44625779	C	T	18	47099408	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.67754202648314E-4	0.01
18	44625780	A	C	18	47099409	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.739694097643976	0.588
18	44625780	A	G	18	47099409	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0543616824453788	0.342
18	44625780	A	T	18	47099409	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.12669167328581	0.406
18	44625781	G	A	18	47099410	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999689951753407	0.94
18	44625781	G	C	18	47099410	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999683728100105	0.904
18	44625781	G	T	18	47099410	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999917595673048	0.964
18	44625782	C	A	18	47099411	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.8344097008416E-4	0.018
18	44625782	C	G	18	47099411	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.91518213317494E-4	0.044
18	44625782	C	T	18	47099411	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.03635677530553E-4	0.024
18	44625783	T	A	18	47099412	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.1326844747306E-5	0.004
18	44625783	T	C	18	47099412	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.84733253520018E-5	0.0
18	44625783	T	G	18	47099412	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.68549984218275E-5	0.0
18	44625784	G	A	18	47099413	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.214233116931E-4	0.002
18	44625784	G	C	18	47099413	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.75684758862134E-4	0.012
18	44625784	G	T	18	47099413	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.214233116931E-4	0.002
18	44626613	T	A	18	47100242	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999785510703394	0.894
18	44626613	T	C	18	47100242	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.1501602399515E-5	0.006
18	44626613	T	G	18	47100242	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0308638558421867	0.32
18	44626614	G	A	18	47100243	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.998226308270639	0.978
18	44626614	G	C	18	47100243	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.94039333075944E-4	0.002
18	44626614	G	T	18	47100243	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.03186409898632E-4	0.018
18	44626615	G	A	18	47100244	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.83494524224082E-4	0.084
18	44626615	G	C	18	47100244	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.22085900337142E-5	0.004
18	44626615	G	T	18	47100244	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.0610733690724E-5	0.008
18	44626616	C	A	18	47100245	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00906976161415293	0.2
18	44626616	C	G	18	47100245	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00253401442142517	0.128
18	44626616	C	T	18	47100245	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.53887891041066E-4	0.002
18	44626617	T	A	18	47100246	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999952072348766	0.986
18	44626617	T	C	18	47100246	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00265188956104305	0.084
18	44626617	T	G	18	47100246	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.109306575438196	0.372
18	44626618	G	A	18	47100247	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.63354197910015E-4	0.008
18	44626618	G	C	18	47100247	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.29480920136238E-5	0.0
18	44626618	G	T	18	47100247	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.18498239749302E-4	0.0
18	44626619	T	A	18	47100248	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.946766845511381	0.624
18	44626619	T	C	18	47100248	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0120139308899241	0.09
18	44626619	T	G	18	47100248	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.954220948814806	0.584
18	44626620	T	A	18	47100249	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.981567938282733	0.694
18	44626620	T	C	18	47100249	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0824081437734223	0.184
18	44626620	T	G	18	47100249	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.992678881911542	0.68
18	44626621	T	A	18	47100250	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00174867478002669	0.01
18	44626621	T	C	18	47100250	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0010724118978161	0.0
18	44626621	T	G	18	47100250	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00230747051339818	0.016
18	44626622	C	A	18	47100251	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.978870698794406	0.782
18	44626622	C	G	18	47100251	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999563128849188	0.926
18	44626622	C	T	18	47100251	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0126879656085166	0.084
18	44626623	A	C	18	47100252	y	y	splicing	KATNAL2(NM_031303:exon14:c.1159-2A>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1159-2A>C;ENST00000356157:exon15:c.1375-2A>C)	.	.	0.999992446697775	0.93
18	44626623	A	G	18	47100252	y	y	splicing	KATNAL2(NM_031303:exon14:c.1159-2A>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1159-2A>G;ENST00000356157:exon15:c.1375-2A>G)	.	.	0.999992446697775	0.93
18	44626623	A	T	18	47100252	y	y	splicing	KATNAL2(NM_031303:exon14:c.1159-2A>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1159-2A>T;ENST00000356157:exon15:c.1375-2A>T)	.	.	0.999992446697775	0.93
18	44626624	G	A	18	47100253	y	y	splicing	KATNAL2(NM_031303:exon14:c.1159-1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1159-1G>A;ENST00000356157:exon15:c.1375-1G>A)	.	.	0.999988247793601	0.926
18	44626624	G	C	18	47100253	y	y	splicing	KATNAL2(NM_031303:exon14:c.1159-1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1159-1G>C;ENST00000356157:exon15:c.1375-1G>C)	.	.	0.999988247793601	0.926
18	44626624	G	T	18	47100253	y	y	splicing	KATNAL2(NM_031303:exon14:c.1159-1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1159-1G>T;ENST00000356157:exon15:c.1375-1G>T)	.	.	0.999988247793601	0.926
18	44626625	G	A	18	47100254	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon14:c.G1159A:p.E387K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.G1159A:p.E387K;ENSG00000167216:ENST00000356157:exon15:c.G1375A:p.E459K;	0.933469982334602	0.64
18	44626625	G	C	18	47100254	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon14:c.G1159C:p.E387Q;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.G1159C:p.E387Q;ENSG00000167216:ENST00000356157:exon15:c.G1375C:p.E459Q;	0.998278617724942	0.96
18	44626625	G	T	18	47100254	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon14:c.G1159T:p.E387X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000245121:exon14:c.G1159T:p.E387X;ENSG00000167216:ENST00000356157:exon15:c.G1375T:p.E459X;	0.999891281432385	0.978
18	44626626	A	C	18	47100255	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon14:c.A1160C:p.E387A;	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000588433:exon10:c.945-2A>C)	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.A1160C:p.E387A;ENSG00000167216:ENST00000356157:exon15:c.A1376C:p.E459A;	0.00742510218020628	0.052
18	44626626	A	G	18	47100255	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon14:c.A1160G:p.E387G;	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000588433:exon10:c.945-2A>G)	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.A1160G:p.E387G;ENSG00000167216:ENST00000356157:exon15:c.A1376G:p.E459G;	0.0237992741472254	0.142
18	44626626	A	T	18	47100255	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon14:c.A1160T:p.E387V;	exonic;splicing	ENSG00000167216;ENSG00000167216(ENST00000588433:exon10:c.945-2A>T)	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.A1160T:p.E387V;ENSG00000167216:ENST00000356157:exon15:c.A1376T:p.E459V;	0.0632558112867783	0.322
18	44626725	C	A	18	47100354	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon14:c.C1259A:p.S420X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000245121:exon14:c.C1259A:p.S420X;ENSG00000167216:ENST00000356157:exon15:c.C1475A:p.S492X;	0.961730049673115	0.832
18	44626725	C	G	18	47100354	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon14:c.C1259G:p.S420X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000245121:exon14:c.C1259G:p.S420X;ENSG00000167216:ENST00000356157:exon15:c.C1475G:p.S492X;	0.959352575278443	0.688
18	44626725	C	T	18	47100354	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon14:c.C1259T:p.S420L;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.C1259T:p.S420L;ENSG00000167216:ENST00000356157:exon15:c.C1475T:p.S492L;	0.973312375825592	0.782
18	44626726	A	C	18	47100355	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon14:c.A1260C:p.S420S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.A1260C:p.S420S;ENSG00000167216:ENST00000356157:exon15:c.A1476C:p.S492S;	0.983379889458149	0.77
18	44626726	A	G	18	47100355	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon14:c.A1260G:p.S420S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.A1260G:p.S420S;ENSG00000167216:ENST00000356157:exon15:c.A1476G:p.S492S;	0.94021894085234	0.646
18	44626726	A	T	18	47100355	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon14:c.A1260T:p.S420S;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.A1260T:p.S420S;ENSG00000167216:ENST00000356157:exon15:c.A1476T:p.S492S;	0.965685172378158	0.808
18	44626727	G	A	18	47100356	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon14:c.G1261A:p.E421K;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.G1261A:p.E421K;ENSG00000167216:ENST00000356157:exon15:c.G1477A:p.E493K;	0.999790543075468	0.968
18	44626727	G	C	18	47100356	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon14:c.G1261C:p.E421Q;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon14:c.G1261C:p.E421Q;ENSG00000167216:ENST00000356157:exon15:c.G1477C:p.E493Q;	0.99998638944736	0.998
18	44626727	G	T	18	47100356	y	y	exonic	KATNAL2	stopgain SNV	KATNAL2:NM_031303:exon14:c.G1261T:p.E421X;	exonic	ENSG00000167216	stopgain SNV	ENSG00000167216:ENST00000245121:exon14:c.G1261T:p.E421X;ENSG00000167216:ENST00000356157:exon15:c.G1477T:p.E493X;	0.999969346681705	0.99
18	44626728	G	A	18	47100357	y	y	splicing	KATNAL2(NM_031303:exon14:c.1261+1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1261+1G>A;ENST00000356157:exon15:c.1477+1G>A)	.	.	0.999989072007339	0.932
18	44626728	G	C	18	47100357	y	y	splicing	KATNAL2(NM_031303:exon14:c.1261+1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1261+1G>C;ENST00000356157:exon15:c.1477+1G>C)	.	.	0.999989072007339	0.932
18	44626728	G	T	18	47100357	y	y	splicing	KATNAL2(NM_031303:exon14:c.1261+1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1261+1G>T;ENST00000356157:exon15:c.1477+1G>T)	.	.	0.999989072007339	0.932
18	44626729	T	A	18	47100358	y	y	splicing	KATNAL2(NM_031303:exon14:c.1261+2T>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1261+2T>A;ENST00000356157:exon15:c.1477+2T>A)	.	.	0.999988247793601	0.93
18	44626729	T	C	18	47100358	y	y	splicing	KATNAL2(NM_031303:exon14:c.1261+2T>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1261+2T>C;ENST00000356157:exon15:c.1477+2T>C)	.	.	0.986973409415639	0.65
18	44626729	T	G	18	47100358	y	y	splicing	KATNAL2(NM_031303:exon14:c.1261+2T>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon14:c.1261+2T>G;ENST00000356157:exon15:c.1477+2T>G)	.	.	0.999988247793601	0.93
18	44626730	A	C	18	47100359	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.998045345081391	0.888
18	44626730	A	G	18	47100359	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.995785865444082	0.838
18	44626730	A	T	18	47100359	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.999494686846951	0.91
18	44626731	T	A	18	47100360	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.14818499748047E-5	0.06
18	44626731	T	C	18	47100360	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.03860024578102E-5	0.0
18	44626731	T	G	18	47100360	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.77661487666998E-5	0.014
18	44626732	G	A	18	47100361	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.296915710296995	0.436
18	44626732	G	C	18	47100361	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.562719135747153	0.5
18	44626732	G	T	18	47100361	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.64155083069241	0.5
18	44626733	G	A	18	47100362	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.40919314246497E-5	0.008
18	44626733	G	C	18	47100362	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.84769584177063E-5	0.018
18	44626733	G	T	18	47100362	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.80454135531654E-5	0.0
18	44626734	G	A	18	47100363	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.27652530752001E-6	0.008
18	44626734	G	C	18	47100363	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.27652530752001E-6	0.0
18	44626734	G	T	18	47100363	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.45659892879814E-6	0.0
18	44626735	T	A	18	47100364	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.49737952844041E-6	0.0
18	44626735	T	C	18	47100364	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.88275000086081E-5	0.0
18	44626735	T	G	18	47100364	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.19078539001961E-5	0.0
18	44627225	T	A	18	47100854	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.44998781456725	0.558
18	44627225	T	C	18	47100854	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.88593286453918E-4	0.082
18	44627225	T	G	18	47100854	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.328634272521723	0.538
18	44627226	T	A	18	47100855	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.45227720687287	0.49
18	44627226	T	C	18	47100855	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.08175883205965E-4	0.042
18	44627226	T	G	18	47100855	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.283025066154829	0.524
18	44627227	C	A	18	47100856	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.80429716284235E-4	0.046
18	44627227	C	G	18	47100856	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.99119722174997E-4	0.064
18	44627227	C	T	18	47100856	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.41191523414278E-5	0.01
18	44627228	T	A	18	47100857	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00196226425207011	0.112
18	44627228	T	C	18	47100857	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.26797857396958E-4	0.01
18	44627228	T	G	18	47100857	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00467542635116916	0.124
18	44627229	T	A	18	47100858	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	8.50753270325447E-4	0.082
18	44627229	T	C	18	47100858	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.19720213170086E-6	0.01
18	44627229	T	G	18	47100858	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.21152638976356E-4	0.09
18	44627230	A	C	18	47100859	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	3.10299219073122E-5	0.062
18	44627230	A	G	18	47100859	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	1.20501439950432E-5	0.028
18	44627230	A	T	18	47100859	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.61607785574247E-5	0.006
18	44627231	T	A	18	47100860	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.00188588346138901	0.196
18	44627231	T	C	18	47100860	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.5872841224923E-5	0.056
18	44627231	T	G	18	47100860	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.998119333295538	0.706
18	44627232	C	A	18	47100861	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	7.23934719340538E-4	0.088
18	44627232	C	G	18	47100861	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	2.63426705216003E-4	0.096
18	44627232	C	T	18	47100861	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	6.42804650635733E-5	0.096
18	44627233	C	A	18	47100862	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.13049874230453E-5	0.066
18	44627233	C	G	18	47100862	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	9.16652784520957E-5	0.034
18	44627233	C	T	18	47100862	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	4.28660902331401E-5	0.036
18	44627234	T	A	18	47100863	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.0511182116757174	0.46
18	44627234	T	C	18	47100863	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	5.9657632488289E-5	0.042
18	44627234	T	G	18	47100863	y	y	intronic	KATNAL2	.	.	intronic	ENSG00000167216	.	.	0.95239542294896	0.688
18	44627235	A	C	18	47100864	y	y	splicing	KATNAL2(NM_031303:exon15:c.1262-2A>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon15:c.1262-2A>C;ENST00000356157:exon16:c.1478-2A>C)	.	.	0.999964896440643	0.938
18	44627235	A	G	18	47100864	y	y	splicing	KATNAL2(NM_031303:exon15:c.1262-2A>G)	.	.	splicing	ENSG00000167216(ENST00000245121:exon15:c.1262-2A>G;ENST00000356157:exon16:c.1478-2A>G)	.	.	0.999964896440643	0.938
18	44627235	A	T	18	47100864	y	y	splicing	KATNAL2(NM_031303:exon15:c.1262-2A>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon15:c.1262-2A>T;ENST00000356157:exon16:c.1478-2A>T)	.	.	0.999946188727699	0.946
18	44627236	G	A	18	47100865	y	y	splicing	KATNAL2(NM_031303:exon15:c.1262-1G>A)	.	.	splicing	ENSG00000167216(ENST00000245121:exon15:c.1262-1G>A;ENST00000356157:exon16:c.1478-1G>A)	.	.	0.99995586615188	0.948
18	44627236	G	C	18	47100865	y	y	splicing	KATNAL2(NM_031303:exon15:c.1262-1G>C)	.	.	splicing	ENSG00000167216(ENST00000245121:exon15:c.1262-1G>C;ENST00000356157:exon16:c.1478-1G>C)	.	.	0.99995586615188	0.94
18	44627236	G	T	18	47100865	y	y	splicing	KATNAL2(NM_031303:exon15:c.1262-1G>T)	.	.	splicing	ENSG00000167216(ENST00000245121:exon15:c.1262-1G>T;ENST00000356157:exon16:c.1478-1G>T)	.	.	0.99995586615188	0.946
18	44627237	A	C	18	47100866	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon15:c.A1262C:p.E421A;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon15:c.A1262C:p.E421A;ENSG00000167216:ENST00000356157:exon16:c.A1478C:p.E493A;	4.13282364978228E-4	0.13
18	44627237	A	G	18	47100866	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon15:c.A1262G:p.E421G;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon15:c.A1262G:p.E421G;ENSG00000167216:ENST00000356157:exon16:c.A1478G:p.E493G;	1.37451279988291E-4	0.0
18	44627237	A	T	18	47100866	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon15:c.A1262T:p.E421V;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon15:c.A1262T:p.E421V;ENSG00000167216:ENST00000356157:exon16:c.A1478T:p.E493V;	0.0094445352594094	0.122
18	44627238	A	C	18	47100867	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon15:c.A1263C:p.E421D;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon15:c.A1263C:p.E421D;ENSG00000167216:ENST00000356157:exon16:c.A1479C:p.E493D;	3.83455295103364E-5	0.004
18	44627238	A	G	18	47100867	y	y	exonic	KATNAL2	synonymous SNV	KATNAL2:NM_031303:exon15:c.A1263G:p.E421E;	exonic	ENSG00000167216	synonymous SNV	ENSG00000167216:ENST00000245121:exon15:c.A1263G:p.E421E;ENSG00000167216:ENST00000356157:exon16:c.A1479G:p.E493E;	1.55153950189744E-4	0.024
18	44627238	A	T	18	47100867	y	y	exonic	KATNAL2	nonsynonymous SNV	KATNAL2:NM_031303:exon15:c.A1263T:p.E421D;	exonic	ENSG00000167216	nonsynonymous SNV	ENSG00000167216:ENST00000245121:exon15:c.A1263T:p.E421D;ENSG00000167216:ENST00000356157:exon16:c.A1479T:p.E493D;	5.55457710310119E-6	0.002
18	44635155	C	A	18	47108784	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon7:c.G678T:p.G226G;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000300605:exon7:c.G678T:p.G226G;	6.00638062146798E-5	0.0
18	44635155	C	G	18	47108784	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon7:c.G678C:p.G226G;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000300605:exon7:c.G678C:p.G226G;	1.91028549091996E-5	0.004
18	44635155	C	T	18	47108784	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon7:c.G678A:p.G226G;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000300605:exon7:c.G678A:p.G226G;	6.9056255838846E-5	0.0
18	44635156	C	A	18	47108785	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon7:c.G677T:p.G226V;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon7:c.G677T:p.G226V;	0.999851050988923	0.938
18	44635156	C	G	18	47108785	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon7:c.G677C:p.G226A;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon7:c.G677C:p.G226A;	0.999895210676985	0.918
18	44635156	C	T	18	47108785	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon7:c.G677A:p.G226E;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon7:c.G677A:p.G226E;	0.998828148204219	0.838
18	44635157	C	A	18	47108786	y	y	splicing	HDHD2(NM_032124:exon8:c.677-1G>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon8:c.677-1G>T;ENST00000588183:exon8:c.714-1G>T)	.	.	0.999949496871441	0.926
18	44635157	C	G	18	47108786	y	y	splicing	HDHD2(NM_032124:exon8:c.677-1G>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon8:c.677-1G>C;ENST00000588183:exon8:c.714-1G>C)	.	.	0.999949496871441	0.934
18	44635157	C	T	18	47108786	y	y	splicing	HDHD2(NM_032124:exon8:c.677-1G>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon8:c.677-1G>A;ENST00000588183:exon8:c.714-1G>A)	.	.	0.999949496871441	0.93
18	44635158	T	A	18	47108787	y	y	splicing	HDHD2(NM_032124:exon8:c.677-2A>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon8:c.677-2A>T;ENST00000588183:exon8:c.714-2A>T)	.	.	0.99994568797423	0.942
18	44635158	T	C	18	47108787	y	y	splicing	HDHD2(NM_032124:exon8:c.677-2A>G)	.	.	splicing	ENSG00000167220(ENST00000300605:exon8:c.677-2A>G;ENST00000588183:exon8:c.714-2A>G)	.	.	0.99994568797423	0.946
18	44635158	T	G	18	47108787	y	y	splicing	HDHD2(NM_032124:exon8:c.677-2A>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon8:c.677-2A>C;ENST00000588183:exon8:c.714-2A>C)	.	.	0.99994568797423	0.946
18	44635159	G	A	18	47108788	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0517617841086981	0.246
18	44635159	G	C	18	47108788	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999857879324945	0.952
18	44635159	G	T	18	47108788	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.94984363835182	0.482
18	44635160	A	C	18	47108789	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.95753780866473E-5	0.004
18	44635160	A	G	18	47108789	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.75022598972248E-5	0.002
18	44635160	A	T	18	47108789	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.91910115574478E-5	0.002
18	44635161	A	C	18	47108790	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.548388844948787	0.486
18	44635161	A	G	18	47108790	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0310517541600573	0.29
18	44635161	A	T	18	47108790	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.554954616476658	0.488
18	44635162	A	C	18	47108791	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999752481016428	0.958
18	44635162	A	G	18	47108791	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00404433698791451	0.124
18	44635162	A	T	18	47108791	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.555601137155669	0.464
18	44635163	T	A	18	47108792	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.68930548505616E-5	0.0
18	44635163	T	C	18	47108792	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.54389319431926E-5	0.0
18	44635163	T	G	18	47108792	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.90991220554616E-5	0.01
18	44635164	G	A	18	47108793	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	8.60188811249809E-5	0.002
18	44635164	G	C	18	47108793	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	8.51410445079134E-4	0.164
18	44635164	G	T	18	47108793	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.25170083583883E-4	0.086
18	44635165	A	C	18	47108794	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0127291121615099	0.268
18	44635165	A	G	18	47108794	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.65507223873221E-4	0.01
18	44635165	A	T	18	47108794	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0182694140051297	0.242
18	44635166	A	C	18	47108795	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.290637922203928	0.466
18	44635166	A	G	18	47108795	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.12220839043903E-4	0.052
18	44635166	A	T	18	47108795	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.12212766078231	0.4
18	44635167	A	C	18	47108796	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0330052513847468	0.382
18	44635167	A	G	18	47108796	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.81477624409775E-4	0.062
18	44635167	A	T	18	47108796	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0648193774333595	0.382
18	44635168	G	A	18	47108797	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	5.4702993130092E-5	0.004
18	44635168	G	C	18	47108797	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.996690698091495	0.926
18	44635168	G	T	18	47108797	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.81847106921361E-4	0.058
18	44639340	A	C	18	47112969	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.92662478150931E-5	0.042
18	44639340	A	G	18	47112969	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.83811938120301E-5	0.052
18	44639340	A	T	18	47112969	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.04218905506508E-5	0.014
18	44639341	T	A	18	47112970	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.6141304217321E-4	0.114
18	44639341	T	C	18	47112970	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.1344115703109E-4	0.074
18	44639341	T	G	18	47112970	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.3768678637458E-4	0.056
18	44639342	A	C	18	47112971	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.994671775673733	0.738
18	44639342	A	G	18	47112971	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.994049775444056	0.724
18	44639342	A	T	18	47112971	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.998012360041509	0.734
18	44639343	C	A	18	47112972	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999975130869091	0.97
18	44639343	C	G	18	47112972	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999987439781634	0.992
18	44639343	C	T	18	47112972	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999919746111746	0.992
18	44639344	A	C	18	47112973	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.02849201338037E-5	0.0
18	44639344	A	G	18	47112973	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.83377355355532E-4	0.022
18	44639344	A	T	18	47112973	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.022606855849E-4	0.092
18	44639345	T	A	18	47112974	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999225974334744	0.966
18	44639345	T	C	18	47112974	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.998922793309872	0.956
18	44639345	T	G	18	47112974	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999670118662851	0.942
18	44639346	A	C	18	47112975	y	y	splicing	HDHD2(NM_032124:exon7:c.676+2T>G)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.676+2T>G;ENST00000588183:exon7:c.713+2T>G)	.	.	0.999988247793601	0.93
18	44639346	A	G	18	47112975	y	y	splicing	HDHD2(NM_032124:exon7:c.676+2T>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.676+2T>C;ENST00000588183:exon7:c.713+2T>C)	.	.	0.994359181757974	0.686
18	44639346	A	T	18	47112975	y	y	splicing	HDHD2(NM_032124:exon7:c.676+2T>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.676+2T>A;ENST00000588183:exon7:c.713+2T>A)	.	.	0.999988247793601	0.93
18	44639347	C	A	18	47112976	y	y	splicing	HDHD2(NM_032124:exon7:c.676+1G>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.676+1G>T;ENST00000588183:exon7:c.713+1G>T)	.	.	0.999989072007339	0.934
18	44639347	C	G	18	47112976	y	y	splicing	HDHD2(NM_032124:exon7:c.676+1G>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.676+1G>C;ENST00000588183:exon7:c.713+1G>C)	.	.	0.999989072007339	0.934
18	44639347	C	T	18	47112976	y	y	splicing	HDHD2(NM_032124:exon7:c.676+1G>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.676+1G>A;ENST00000588183:exon7:c.713+1G>A)	.	.	0.999989072007339	0.934
18	44639348	C	A	18	47112977	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.G676T:p.G226W;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.G676T:p.G226W;	0.999990770036306	1.0
18	44639348	C	G	18	47112977	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.G676C:p.G226R;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.G676C:p.G226R;	0.999996416111866	0.992
18	44639348	C	T	18	47112977	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.G676A:p.G226R;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.G676A:p.G226R;	0.999988030202906	0.99
18	44639349	A	C	18	47112978	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon6:c.T675G:p.T225T;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.T675G:p.T225T;	1.40847900069047E-4	0.01
18	44639349	A	G	18	47112978	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon6:c.T675C:p.T225T;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.T675C:p.T225T;	2.02257842754215E-4	0.01
18	44639349	A	T	18	47112978	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon6:c.T675A:p.T225T;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.T675A:p.T225T;	2.14081548070144E-4	0.158
18	44639350	G	A	18	47112979	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.C674T:p.T225I;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.C674T:p.T225I;	0.999423791715533	0.818
18	44639350	G	C	18	47112979	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.C674G:p.T225S;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.C674G:p.T225S;	0.935162930354155	0.648
18	44639350	G	T	18	47112979	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.C674A:p.T225N;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.C674A:p.T225N;	0.963785478077622	0.848
18	44639410	T	A	18	47113039	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.A614T:p.D205V;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.A614T:p.D205V;	0.892154508478143	0.822
18	44639410	T	C	18	47113039	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.A614G:p.D205G;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.A614G:p.D205G;	0.923024854596335	0.63
18	44639410	T	G	18	47113039	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.A614C:p.D205A;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.A614C:p.D205A;	0.914809919616434	0.876
18	44639411	C	A	18	47113040	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.G613T:p.D205Y;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.G613T:p.D205Y;	0.999834887129052	0.968
18	44639411	C	G	18	47113040	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.G613C:p.D205H;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.G613C:p.D205H;	0.999660832408384	0.94
18	44639411	C	T	18	47113040	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon6:c.G613A:p.D205N;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon6:c.G613A:p.D205N;	0.998341310558895	0.92
18	44639412	C	A	18	47113041	y	y	splicing	HDHD2(NM_032124:exon7:c.613-1G>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.613-1G>T;ENST00000588183:exon7:c.650-1G>T)	.	.	0.999990361384395	0.938
18	44639412	C	G	18	47113041	y	y	splicing	HDHD2(NM_032124:exon7:c.613-1G>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.613-1G>C;ENST00000588183:exon7:c.650-1G>C)	.	.	0.999990361384395	0.938
18	44639412	C	T	18	47113041	y	y	splicing	HDHD2(NM_032124:exon7:c.613-1G>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.613-1G>A;ENST00000588183:exon7:c.650-1G>A)	.	.	0.999990361384395	0.938
18	44639413	T	A	18	47113042	y	y	splicing	HDHD2(NM_032124:exon7:c.613-2A>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.613-2A>T;ENST00000588183:exon7:c.650-2A>T)	.	.	0.999988247793601	0.93
18	44639413	T	C	18	47113042	y	y	splicing	HDHD2(NM_032124:exon7:c.613-2A>G)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.613-2A>G;ENST00000588183:exon7:c.650-2A>G)	.	.	0.999988247793601	0.93
18	44639413	T	G	18	47113042	y	y	splicing	HDHD2(NM_032124:exon7:c.613-2A>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon7:c.613-2A>C;ENST00000588183:exon7:c.650-2A>C)	.	.	0.999988247793601	0.93
18	44639414	A	C	18	47113043	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0825002808105448	0.438
18	44639414	A	G	18	47113043	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	5.62191798721976E-5	0.018
18	44639414	A	T	18	47113043	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	9.598655241017E-4	0.148
18	44639415	G	A	18	47113044	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.22184628599212E-5	0.0
18	44639415	G	C	18	47113044	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.76690595411937E-5	0.0
18	44639415	G	T	18	47113044	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	5.50280971017866E-5	0.004
18	44639416	A	C	18	47113045	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.587048186189398	0.386
18	44639416	A	G	18	47113045	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	5.93618106104358E-4	0.016
18	44639416	A	T	18	47113045	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.287653633654326	0.394
18	44639417	A	C	18	47113046	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0394022006515655	0.442
18	44639417	A	G	18	47113046	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.33292039115713E-5	0.0
18	44639417	A	T	18	47113046	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0223149397523165	0.408
18	44639418	A	C	18	47113047	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00346431356304479	0.164
18	44639418	A	G	18	47113047	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.82328011569897E-5	0.018
18	44639418	A	T	18	47113047	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00538077713956034	0.176
18	44639419	A	C	18	47113048	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00167326741639482	0.262
18	44639419	A	G	18	47113048	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.25944172371789E-5	0.008
18	44639419	A	T	18	47113048	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0114989862195338	0.23
18	44639420	G	A	18	47113049	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.60052175726148E-5	0.0
18	44639420	G	C	18	47113049	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	6.95182671347441E-5	0.024
18	44639420	G	T	18	47113049	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.67483436870596E-5	0.002
18	44639421	C	A	18	47113050	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.4720635906382E-5	0.0
18	44639421	C	G	18	47113050	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.2633841705919E-5	0.004
18	44639421	C	T	18	47113050	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.50377150032662E-4	0.01
18	44639422	A	C	18	47113051	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999204703553293	0.94
18	44639422	A	G	18	47113051	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	6.14670989820325E-4	0.098
18	44639422	A	T	18	47113051	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999628119269089	0.932
18	44639423	T	A	18	47113052	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.31646792527514E-5	0.0
18	44639423	T	C	18	47113052	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.9881301764217E-5	0.028
18	44639423	T	G	18	47113052	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.68169111983183E-6	0.0
18	44641495	C	A	18	47115124	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.01450115978348E-5	0.038
18	44641495	C	G	18	47115124	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.01450115978348E-5	0.036
18	44641495	C	T	18	47115124	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.23076446693252E-5	0.048
18	44641496	T	A	18	47115125	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	5.33097154244748E-4	0.008
18	44641496	T	C	18	47115125	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	5.72247645960254E-4	0.014
18	44641496	T	G	18	47115125	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00151238373865227	0.012
18	44641497	A	C	18	47115126	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.794827451589003	0.622
18	44641497	A	G	18	47115126	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.886855531350555	0.624
18	44641497	A	T	18	47115126	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.985889981259512	0.688
18	44641498	C	A	18	47115127	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999983322157473	0.91
18	44641498	C	G	18	47115127	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.99914647105927	0.91
18	44641498	C	T	18	47115127	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999950148387891	0.966
18	44641499	T	A	18	47115128	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.978340509954585	0.778
18	44641499	T	C	18	47115128	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.998968021780732	0.846
18	44641499	T	G	18	47115128	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.924887071633887	0.658
18	44641500	T	A	18	47115129	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.997756415303609	0.696
18	44641500	T	C	18	47115129	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.2308002488174E-4	0.042
18	44641500	T	G	18	47115129	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.989179302513485	0.768
18	44641501	A	C	18	47115130	y	n	splicing	HDHD2(NM_032124:exon6:c.612+2T>G)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.612+2T>G;ENST00000588183:exon6:c.649+2T>G)	.	.	0.999988247793601	0.93
18	44641501	A	G	18	47115130	y	n	splicing	HDHD2(NM_032124:exon6:c.612+2T>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.612+2T>C;ENST00000588183:exon6:c.649+2T>C)	.	.	0.996046924575706	0.686
18	44641501	A	T	18	47115130	y	n	splicing	HDHD2(NM_032124:exon6:c.612+2T>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.612+2T>A;ENST00000588183:exon6:c.649+2T>A)	.	.	0.999988247793601	0.93
18	44641502	C	A	18	47115131	y	n	splicing	HDHD2(NM_032124:exon6:c.612+1G>T)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon6:c.612+1G>T;ENST00000588183:exon6:c.649+1G>T)	unknown	UNKNOWN	0.999990361384395	0.938
18	44641502	C	G	18	47115131	y	n	splicing	HDHD2(NM_032124:exon6:c.612+1G>C)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon6:c.612+1G>C;ENST00000588183:exon6:c.649+1G>C)	unknown	UNKNOWN	0.999990361384395	0.938
18	44641502	C	T	18	47115131	y	n	splicing	HDHD2(NM_032124:exon6:c.612+1G>A)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon6:c.612+1G>A;ENST00000588183:exon6:c.649+1G>A)	unknown	UNKNOWN	0.999990361384395	0.938
18	44641503	A	C	18	47115132	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.T612G:p.D204E;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.T612G:p.D204E;ENSG00000167220:ENST00000590815:exon6:c.T612G:p.D204E;	8.9327325821106E-5	0.302
18	44641503	A	G	18	47115132	y	n	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon5:c.T612C:p.D204D;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.T612C:p.D204D;ENSG00000167220:ENST00000590815:exon6:c.T612C:p.D204D;	5.83343604899461E-5	0.006
18	44641503	A	T	18	47115132	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.T612A:p.D204E;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.T612A:p.D204E;ENSG00000167220:ENST00000590815:exon6:c.T612A:p.D204E;	6.43829602908319E-5	0.116
18	44641504	T	A	18	47115133	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.A611T:p.D204V;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.A611T:p.D204V;ENSG00000167220:ENST00000590815:exon6:c.A611T:p.D204V;	0.995985767360947	0.926
18	44641504	T	C	18	47115133	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.A611G:p.D204G;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.A611G:p.D204G;ENSG00000167220:ENST00000590815:exon6:c.A611G:p.D204G;	0.992184783303463	0.908
18	44641504	T	G	18	47115133	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.A611C:p.D204A;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.A611C:p.D204A;ENSG00000167220:ENST00000590815:exon6:c.A611C:p.D204A;	0.993067397425891	0.954
18	44641505	C	A	18	47115134	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.G610T:p.D204Y;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.G610T:p.D204Y;ENSG00000167220:ENST00000590815:exon6:c.G610T:p.D204Y;	0.980451654965876	0.776
18	44641505	C	G	18	47115134	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.G610C:p.D204H;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.G610C:p.D204H;ENSG00000167220:ENST00000590815:exon6:c.G610C:p.D204H;	0.964144345695635	0.734
18	44641505	C	T	18	47115134	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.G610A:p.D204N;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000300605:exon5:c.G610A:p.D204N;ENSG00000167220:ENST00000590815:exon6:c.G610A:p.D204N;	0.945391818545384	0.71
18	44641718	A	C	18	47115347	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.T397G:p.L133V;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon5:c.T370G:p.L124V;ENSG00000167220:ENST00000300605:exon5:c.T397G:p.L133V;ENSG00000167220:ENST00000590815:exon6:c.T397G:p.L133V;	7.92915516098101E-5	0.0
18	44641718	A	G	18	47115347	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon5:c.T397C:p.L133L;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon5:c.T370C:p.L124L;ENSG00000167220:ENST00000300605:exon5:c.T397C:p.L133L;ENSG00000167220:ENST00000590815:exon6:c.T397C:p.L133L;	1.11008964486662E-4	0.004
18	44641718	A	T	18	47115347	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon5:c.T397A:p.L133I;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon5:c.T370A:p.L124I;ENSG00000167220:ENST00000300605:exon5:c.T397A:p.L133I;ENSG00000167220:ENST00000590815:exon6:c.T397A:p.L133I;	7.18634470068945E-5	0.0
18	44641719	C	A	18	47115348	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon5:c.G396T:p.R132R;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon5:c.G369T:p.R123R;ENSG00000167220:ENST00000300605:exon5:c.G396T:p.R132R;ENSG00000167220:ENST00000590815:exon6:c.G396T:p.R132R;	0.0879041447815147	0.424
18	44641719	C	G	18	47115348	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon5:c.G396C:p.R132R;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon5:c.G369C:p.R123R;ENSG00000167220:ENST00000300605:exon5:c.G396C:p.R132R;ENSG00000167220:ENST00000590815:exon6:c.G396C:p.R132R;	0.041185917474557	0.422
18	44641719	C	T	18	47115348	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon5:c.G396A:p.R132R;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon5:c.G369A:p.R123R;ENSG00000167220:ENST00000300605:exon5:c.G396A:p.R132R;ENSG00000167220:ENST00000590815:exon6:c.G396A:p.R132R;	0.00305473632488924	0.226
18	44641720	C	A	18	47115349	y	y	splicing	HDHD2(NM_032124:exon6:c.396-1G>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.396-1G>T;ENST00000588183:exon6:c.433-1G>T;ENST00000590815:exon7:c.396-1G>T;ENST00000591480:exon6:c.369-1G>T;ENST00000586546:exon6:c.348-1G>T)	.	.	0.99995586615188	0.94
18	44641720	C	G	18	47115349	y	y	splicing	HDHD2(NM_032124:exon6:c.396-1G>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.396-1G>C;ENST00000588183:exon6:c.433-1G>C;ENST00000590815:exon7:c.396-1G>C;ENST00000591480:exon6:c.369-1G>C;ENST00000586546:exon6:c.348-1G>C)	.	.	0.999971209564868	0.938
18	44641720	C	T	18	47115349	y	y	splicing	HDHD2(NM_032124:exon6:c.396-1G>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.396-1G>A;ENST00000588183:exon6:c.433-1G>A;ENST00000590815:exon7:c.396-1G>A;ENST00000591480:exon6:c.369-1G>A;ENST00000586546:exon6:c.348-1G>A)	.	.	0.99995586615188	0.946
18	44641721	T	A	18	47115350	y	y	splicing	HDHD2(NM_032124:exon6:c.396-2A>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.396-2A>T;ENST00000588183:exon6:c.433-2A>T;ENST00000590815:exon7:c.396-2A>T;ENST00000591480:exon6:c.369-2A>T;ENST00000586546:exon6:c.348-2A>T)	.	.	0.999980255680118	0.782
18	44641721	T	C	18	47115350	y	y	splicing	HDHD2(NM_032124:exon6:c.396-2A>G)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.396-2A>G;ENST00000588183:exon6:c.433-2A>G;ENST00000590815:exon7:c.396-2A>G;ENST00000591480:exon6:c.369-2A>G;ENST00000586546:exon6:c.348-2A>G)	.	.	0.999980255680118	0.746
18	44641721	T	G	18	47115350	y	y	splicing	HDHD2(NM_032124:exon6:c.396-2A>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon6:c.396-2A>C;ENST00000588183:exon6:c.433-2A>C;ENST00000590815:exon7:c.396-2A>C;ENST00000591480:exon6:c.369-2A>C;ENST00000586546:exon6:c.348-2A>C)	.	.	0.999980255680118	0.742
18	44641722	A	C	18	47115351	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.220231388994607	0.452
18	44641722	A	G	18	47115351	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	6.09631083734091E-5	0.0
18	44641722	A	T	18	47115351	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00101892522548128	0.094
18	44641723	G	A	18	47115352	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.46839939299205E-5	0.004
18	44641723	G	C	18	47115352	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	9.50723830385481E-5	0.02
18	44641723	G	T	18	47115352	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.42093206242867E-5	0.002
18	44641724	A	C	18	47115353	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00103374477755235	0.166
18	44641724	A	G	18	47115353	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.71057071704697E-5	0.008
18	44641724	A	T	18	47115353	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00113890037579256	0.166
18	44641725	G	A	18	47115354	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.58891600894162E-5	0.024
18	44641725	G	C	18	47115354	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	5.93291946530975E-4	0.228
18	44641725	G	T	18	47115354	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.28819133203566E-4	0.228
18	44641726	A	C	18	47115355	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0164917326876232	0.396
18	44641726	A	G	18	47115355	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.81473172603093E-5	0.016
18	44641726	A	T	18	47115355	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0191905496391814	0.408
18	44641727	G	A	18	47115356	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.92728175934437E-5	0.016
18	44641727	G	C	18	47115356	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.10790680781637E-5	0.024
18	44641727	G	T	18	47115356	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.38391530350101E-5	0.022
18	44641728	A	C	18	47115357	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	6.28178240700023E-4	0.088
18	44641728	A	G	18	47115357	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.03648498304798E-5	0.0
18	44641728	A	T	18	47115357	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.53907556611018E-4	0.096
18	44641729	A	C	18	47115358	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00106109838148392	0.118
18	44641729	A	G	18	47115358	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.14553316200769E-5	0.026
18	44641729	A	T	18	47115358	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00147178181976403	0.142
18	44641730	C	A	18	47115359	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.34857230003642E-5	0.058
18	44641730	C	G	18	47115359	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.9983471796151E-5	0.092
18	44641730	C	T	18	47115359	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.45086506391654E-4	0.028
18	44641731	A	C	18	47115360	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00189693752540076	0.118
18	44641731	A	G	18	47115360	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.92262929212723E-5	0.02
18	44641731	A	T	18	47115360	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.754531045345746	0.534
18	44656607	A	C	18	47130236	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.55533203735188E-5	0.0
18	44656607	A	G	18	47130236	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	9.45119024152005E-5	0.0
18	44656607	A	T	18	47130236	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.85629413592391E-5	0.0
18	44656608	G	A	18	47130237	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.93296135922184E-4	0.01
18	44656608	G	C	18	47130237	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.11486217082832E-4	0.002
18	44656608	G	T	18	47130237	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.85734933533828E-4	0.006
18	44656609	G	A	18	47130238	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.78815808215601E-5	0.016
18	44656609	G	C	18	47130238	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	5.93512546096148E-5	0.022
18	44656609	G	T	18	47130238	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.20000096226637E-4	0.008
18	44656610	T	A	18	47130239	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00463675091892683	0.048
18	44656610	T	C	18	47130239	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.84136363471464E-4	0.066
18	44656610	T	G	18	47130239	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.02782138368715E-4	0.01
18	44656611	T	A	18	47130240	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.950330219543628	0.72
18	44656611	T	C	18	47130240	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.997769839801443	0.842
18	44656611	T	G	18	47130240	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.971375730344751	0.692
18	44656612	T	A	18	47130241	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999756261045508	0.896
18	44656612	T	C	18	47130241	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.975754902572122	0.732
18	44656612	T	G	18	47130241	y	n	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.999756261045508	0.882
18	44656613	A	C	18	47130242	y	n	splicing	HDHD2(NM_032124:exon5:c.395+2T>G)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon5:c.395+2T>G;ENST00000588183:exon5:c.432+2T>G;ENST00000590815:exon6:c.395+2T>G;ENST00000591480:exon5:c.368+2T>G)	unknown	UNKNOWN	0.999986607513753	0.918
18	44656613	A	G	18	47130242	y	n	splicing	HDHD2(NM_032124:exon5:c.395+2T>C)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon5:c.395+2T>C;ENST00000588183:exon5:c.432+2T>C;ENST00000590815:exon6:c.395+2T>C;ENST00000591480:exon5:c.368+2T>C)	unknown	UNKNOWN	0.999924295040438	0.882
18	44656613	A	T	18	47130242	y	n	splicing	HDHD2(NM_032124:exon5:c.395+2T>A)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon5:c.395+2T>A;ENST00000588183:exon5:c.432+2T>A;ENST00000590815:exon6:c.395+2T>A;ENST00000591480:exon5:c.368+2T>A)	unknown	UNKNOWN	0.999986607513753	0.918
18	44656614	C	A	18	47130243	y	n	splicing	HDHD2(NM_032124:exon5:c.395+1G>T)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon5:c.395+1G>T;ENST00000588183:exon5:c.432+1G>T;ENST00000590815:exon6:c.395+1G>T;ENST00000591480:exon5:c.368+1G>T)	synonymous SNV	ENSG00000167220:ENST00000588940:exon4:c.G396T:p.R132R;ENSG00000167220:ENST00000590481:exon5:c.G396T:p.R132R;	0.999990361384395	0.938
18	44656614	C	G	18	47130243	y	n	splicing	HDHD2(NM_032124:exon5:c.395+1G>C)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon5:c.395+1G>C;ENST00000588183:exon5:c.432+1G>C;ENST00000590815:exon6:c.395+1G>C;ENST00000591480:exon5:c.368+1G>C)	synonymous SNV	ENSG00000167220:ENST00000588940:exon4:c.G396C:p.R132R;ENSG00000167220:ENST00000590481:exon5:c.G396C:p.R132R;	0.999990361384395	0.938
18	44656614	C	T	18	47130243	y	n	splicing	HDHD2(NM_032124:exon5:c.395+1G>A)	.	.	exonic;splicing	ENSG00000167220;ENSG00000167220(ENST00000300605:exon5:c.395+1G>A;ENST00000588183:exon5:c.432+1G>A;ENST00000590815:exon6:c.395+1G>A;ENST00000591480:exon5:c.368+1G>A)	synonymous SNV	ENSG00000167220:ENST00000588940:exon4:c.G396A:p.R132R;ENSG00000167220:ENST00000590481:exon5:c.G396A:p.R132R;	0.999990361384395	0.938
18	44656615	C	A	18	47130244	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.G395T:p.R132L;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.G368T:p.R123L;ENSG00000167220:ENST00000300605:exon4:c.G395T:p.R132L;ENSG00000167220:ENST00000588940:exon4:c.G395T:p.R132L;ENSG00000167220:ENST00000590481:exon5:c.G395T:p.R132L;ENSG00000167220:ENST00000590815:exon5:c.G395T:p.R132L;	0.999992623933326	0.994
18	44656615	C	G	18	47130244	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.G395C:p.R132P;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.G368C:p.R123P;ENSG00000167220:ENST00000300605:exon4:c.G395C:p.R132P;ENSG00000167220:ENST00000588940:exon4:c.G395C:p.R132P;ENSG00000167220:ENST00000590481:exon5:c.G395C:p.R132P;ENSG00000167220:ENST00000590815:exon5:c.G395C:p.R132P;	0.99999700970907	0.996
18	44656615	C	T	18	47130244	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.G395A:p.R132Q;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.G368A:p.R123Q;ENSG00000167220:ENST00000300605:exon4:c.G395A:p.R132Q;ENSG00000167220:ENST00000588940:exon4:c.G395A:p.R132Q;ENSG00000167220:ENST00000590481:exon5:c.G395A:p.R132Q;ENSG00000167220:ENST00000590815:exon5:c.G395A:p.R132Q;	0.999996012882746	0.998
18	44656616	G	A	18	47130245	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.C394T:p.R132W;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.C367T:p.R123W;ENSG00000167220:ENST00000300605:exon4:c.C394T:p.R132W;ENSG00000167220:ENST00000588940:exon4:c.C394T:p.R132W;ENSG00000167220:ENST00000590481:exon5:c.C394T:p.R132W;ENSG00000167220:ENST00000590815:exon5:c.C394T:p.R132W;	0.99305092154594	0.888
18	44656616	G	C	18	47130245	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.C394G:p.R132G;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.C367G:p.R123G;ENSG00000167220:ENST00000300605:exon4:c.C394G:p.R132G;ENSG00000167220:ENST00000588940:exon4:c.C394G:p.R132G;ENSG00000167220:ENST00000590481:exon5:c.C394G:p.R132G;ENSG00000167220:ENST00000590815:exon5:c.C394G:p.R132G;	0.987630013420599	0.808
18	44656616	G	T	18	47130245	y	n	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon4:c.C394A:p.R132R;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.C367A:p.R123R;ENSG00000167220:ENST00000300605:exon4:c.C394A:p.R132R;ENSG00000167220:ENST00000588940:exon4:c.C394A:p.R132R;ENSG00000167220:ENST00000590481:exon5:c.C394A:p.R132R;ENSG00000167220:ENST00000590815:exon5:c.C394A:p.R132R;	0.0110082512706241	0.14
18	44656617	G	A	18	47130246	y	n	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon4:c.C393T:p.F131F;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.C366T:p.F122F;ENSG00000167220:ENST00000300605:exon4:c.C393T:p.F131F;ENSG00000167220:ENST00000587388:exon5:c.C393T:p.F131F;ENSG00000167220:ENST00000588940:exon4:c.C393T:p.F131F;ENSG00000167220:ENST00000590481:exon5:c.C393T:p.F131F;ENSG00000167220:ENST00000592591:exon5:c.C366T:p.F122F;ENSG00000167220:ENST00000590815:exon5:c.C393T:p.F131F;	0.0271651780433436	0.388
18	44656617	G	C	18	47130246	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.C393G:p.F131L;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.C366G:p.F122L;ENSG00000167220:ENST00000300605:exon4:c.C393G:p.F131L;ENSG00000167220:ENST00000587388:exon5:c.C393G:p.F131L;ENSG00000167220:ENST00000588940:exon4:c.C393G:p.F131L;ENSG00000167220:ENST00000590481:exon5:c.C393G:p.F131L;ENSG00000167220:ENST00000592591:exon5:c.C366G:p.F122L;ENSG00000167220:ENST00000590815:exon5:c.C393G:p.F131L;	0.0112822043862325	0.188
18	44656617	G	T	18	47130246	y	n	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.C393A:p.F131L;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.C366A:p.F122L;ENSG00000167220:ENST00000300605:exon4:c.C393A:p.F131L;ENSG00000167220:ENST00000587388:exon5:c.C393A:p.F131L;ENSG00000167220:ENST00000588940:exon4:c.C393A:p.F131L;ENSG00000167220:ENST00000590481:exon5:c.C393A:p.F131L;ENSG00000167220:ENST00000592591:exon5:c.C366A:p.F122L;ENSG00000167220:ENST00000590815:exon5:c.C393A:p.F131L;	0.00524021611842415	0.248
18	44656698	T	A	18	47130327	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon4:c.A312T:p.G104G;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.A285T:p.G95G;ENSG00000167220:ENST00000300605:exon4:c.A312T:p.G104G;ENSG00000167220:ENST00000587388:exon5:c.A312T:p.G104G;ENSG00000167220:ENST00000588940:exon4:c.A312T:p.G104G;ENSG00000167220:ENST00000590481:exon5:c.A312T:p.G104G;ENSG00000167220:ENST00000592591:exon5:c.A285T:p.G95G;ENSG00000167220:ENST00000590815:exon5:c.A312T:p.G104G;	8.41450958304059E-5	0.004
18	44656698	T	C	18	47130327	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon4:c.A312G:p.G104G;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.A285G:p.G95G;ENSG00000167220:ENST00000300605:exon4:c.A312G:p.G104G;ENSG00000167220:ENST00000587388:exon5:c.A312G:p.G104G;ENSG00000167220:ENST00000588940:exon4:c.A312G:p.G104G;ENSG00000167220:ENST00000590481:exon5:c.A312G:p.G104G;ENSG00000167220:ENST00000592591:exon5:c.A285G:p.G95G;ENSG00000167220:ENST00000590815:exon5:c.A312G:p.G104G;	2.0894196317133E-4	0.036
18	44656698	T	G	18	47130327	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon4:c.A312C:p.G104G;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.A285C:p.G95G;ENSG00000167220:ENST00000300605:exon4:c.A312C:p.G104G;ENSG00000167220:ENST00000587388:exon5:c.A312C:p.G104G;ENSG00000167220:ENST00000588940:exon4:c.A312C:p.G104G;ENSG00000167220:ENST00000590481:exon5:c.A312C:p.G104G;ENSG00000167220:ENST00000592591:exon5:c.A285C:p.G95G;ENSG00000167220:ENST00000590815:exon5:c.A312C:p.G104G;	3.17656795923868E-4	0.012
18	44656699	C	A	18	47130328	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.G311T:p.G104V;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.G284T:p.G95V;ENSG00000167220:ENST00000300605:exon4:c.G311T:p.G104V;ENSG00000167220:ENST00000587388:exon5:c.G311T:p.G104V;ENSG00000167220:ENST00000588940:exon4:c.G311T:p.G104V;ENSG00000167220:ENST00000590481:exon5:c.G311T:p.G104V;ENSG00000167220:ENST00000592591:exon5:c.G284T:p.G95V;ENSG00000167220:ENST00000590815:exon5:c.G311T:p.G104V;	0.999510364194821	0.98
18	44656699	C	G	18	47130328	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.G311C:p.G104A;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.G284C:p.G95A;ENSG00000167220:ENST00000300605:exon4:c.G311C:p.G104A;ENSG00000167220:ENST00000587388:exon5:c.G311C:p.G104A;ENSG00000167220:ENST00000588940:exon4:c.G311C:p.G104A;ENSG00000167220:ENST00000590481:exon5:c.G311C:p.G104A;ENSG00000167220:ENST00000592591:exon5:c.G284C:p.G95A;ENSG00000167220:ENST00000590815:exon5:c.G311C:p.G104A;	0.99435679732934	0.838
18	44656699	C	T	18	47130328	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon4:c.G311A:p.G104E;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon4:c.G284A:p.G95E;ENSG00000167220:ENST00000300605:exon4:c.G311A:p.G104E;ENSG00000167220:ENST00000587388:exon5:c.G311A:p.G104E;ENSG00000167220:ENST00000588940:exon4:c.G311A:p.G104E;ENSG00000167220:ENST00000590481:exon5:c.G311A:p.G104E;ENSG00000167220:ENST00000592591:exon5:c.G284A:p.G95E;ENSG00000167220:ENST00000590815:exon5:c.G311A:p.G104E;	0.849851296822815	0.586
18	44656700	C	A	18	47130329	y	y	splicing	HDHD2(NM_032124:exon5:c.311-1G>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon5:c.311-1G>T;ENST00000588183:exon5:c.348-1G>T;ENST00000590815:exon6:c.311-1G>T;ENST00000591480:exon5:c.284-1G>T;ENST00000590481:exon6:c.311-1G>T;ENST00000588940:exon5:c.311-1G>T;ENST00000587388:exon6:c.311-1G>T;ENST00000591268:exon5:c.348-1G>T;ENST00000592591:exon6:c.284-1G>T)	.	.	0.999990361384395	0.938
18	44656700	C	G	18	47130329	y	y	splicing	HDHD2(NM_032124:exon5:c.311-1G>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon5:c.311-1G>C;ENST00000588183:exon5:c.348-1G>C;ENST00000590815:exon6:c.311-1G>C;ENST00000591480:exon5:c.284-1G>C;ENST00000590481:exon6:c.311-1G>C;ENST00000588940:exon5:c.311-1G>C;ENST00000587388:exon6:c.311-1G>C;ENST00000591268:exon5:c.348-1G>C;ENST00000592591:exon6:c.284-1G>C)	.	.	0.999990361384395	0.938
18	44656700	C	T	18	47130329	y	y	splicing	HDHD2(NM_032124:exon5:c.311-1G>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon5:c.311-1G>A;ENST00000588183:exon5:c.348-1G>A;ENST00000590815:exon6:c.311-1G>A;ENST00000591480:exon5:c.284-1G>A;ENST00000590481:exon6:c.311-1G>A;ENST00000588940:exon5:c.311-1G>A;ENST00000587388:exon6:c.311-1G>A;ENST00000591268:exon5:c.348-1G>A;ENST00000592591:exon6:c.284-1G>A)	.	.	0.999990361384395	0.938
18	44656701	T	A	18	47130330	y	y	splicing	HDHD2(NM_032124:exon5:c.311-2A>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon5:c.311-2A>T;ENST00000588183:exon5:c.348-2A>T;ENST00000590815:exon6:c.311-2A>T;ENST00000591480:exon5:c.284-2A>T;ENST00000590481:exon6:c.311-2A>T;ENST00000588940:exon5:c.311-2A>T;ENST00000587388:exon6:c.311-2A>T;ENST00000591268:exon5:c.348-2A>T;ENST00000592591:exon6:c.284-2A>T)	.	.	0.999978952611685	0.93
18	44656701	T	C	18	47130330	y	y	splicing	HDHD2(NM_032124:exon5:c.311-2A>G)	.	.	splicing	ENSG00000167220(ENST00000300605:exon5:c.311-2A>G;ENST00000588183:exon5:c.348-2A>G;ENST00000590815:exon6:c.311-2A>G;ENST00000591480:exon5:c.284-2A>G;ENST00000590481:exon6:c.311-2A>G;ENST00000588940:exon5:c.311-2A>G;ENST00000587388:exon6:c.311-2A>G;ENST00000591268:exon5:c.348-2A>G;ENST00000592591:exon6:c.284-2A>G)	.	.	0.99994568797423	0.932
18	44656701	T	G	18	47130330	y	y	splicing	HDHD2(NM_032124:exon5:c.311-2A>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon5:c.311-2A>C;ENST00000588183:exon5:c.348-2A>C;ENST00000590815:exon6:c.311-2A>C;ENST00000591480:exon5:c.284-2A>C;ENST00000590481:exon6:c.311-2A>C;ENST00000588940:exon5:c.311-2A>C;ENST00000587388:exon6:c.311-2A>C;ENST00000591268:exon5:c.348-2A>C;ENST00000592591:exon6:c.284-2A>C)	.	.	0.99994568797423	0.932
18	44656702	G	A	18	47130331	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00331230439572309	0.126
18	44656702	G	C	18	47130331	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.972604776392946	0.856
18	44656702	G	T	18	47130331	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.131410288489694	0.378
18	44656703	G	A	18	47130332	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.96091182864254E-5	0.0
18	44656703	G	C	18	47130332	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.96091182864254E-5	0.0
18	44656703	G	T	18	47130332	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.96091182864254E-5	0.0
18	44656704	G	A	18	47130333	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.67863050505795E-5	0.0
18	44656704	G	C	18	47130333	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	9.84892429815881E-4	0.036
18	44656704	G	T	18	47130333	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.48727756042374E-4	0.01
18	44656705	A	C	18	47130334	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00106754907790291	0.04
18	44656705	A	G	18	47130334	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.18035050196643E-5	0.0
18	44656705	A	T	18	47130334	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	8.47317199337735E-4	0.028
18	44656706	A	C	18	47130335	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0107716645773466	0.204
18	44656706	A	G	18	47130335	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	9.85838681042264E-4	0.048
18	44656706	A	T	18	47130335	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00986677415693486	0.188
18	44656707	C	A	18	47130336	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.32940973327243E-5	0.002
18	44656707	C	G	18	47130336	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.63360558622448E-5	0.012
18	44656707	C	T	18	47130336	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.21265356295122E-5	0.02
18	44656708	G	A	18	47130337	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.02134175944198E-5	0.0
18	44656708	G	C	18	47130337	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.77977760200698E-4	0.004
18	44656708	G	T	18	47130337	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.986574361541268	0.994
18	44656709	G	A	18	47130338	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.94777979037645E-5	0.006
18	44656709	G	C	18	47130338	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.9206252105648E-4	0.066
18	44656709	G	T	18	47130338	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.71616176869461E-4	0.062
18	44656710	A	C	18	47130339	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00305752312570379	0.22
18	44656710	A	G	18	47130339	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00206685422567003	0.08
18	44656710	A	T	18	47130339	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0363901023598133	0.286
18	44656711	A	C	18	47130340	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00623350007105503	0.11
18	44656711	A	G	18	47130340	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.91164218457742E-4	0.01
18	44656711	A	T	18	47130340	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.00666153123462016	0.118
18	44660859	T	A	18	47134488	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.02443692669421E-4	0.002
18	44660859	T	C	18	47134488	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	4.4397131142504E-5	0.0
18	44660859	T	G	18	47134488	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.81743435289222E-5	0.002
18	44660860	C	A	18	47134489	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.25788420748545E-5	0.0
18	44660860	C	G	18	47134489	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.87680416612575E-5	0.002
18	44660860	C	T	18	47134489	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.87680416612575E-5	0.0
18	44660861	C	A	18	47134490	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	8.19797542827393E-5	0.01
18	44660861	C	G	18	47134490	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	9.57317812717577E-5	0.006
18	44660861	C	T	18	47134490	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	7.49728498840764E-5	0.008
18	44660862	C	A	18	47134491	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.991570235741862	0.712
18	44660862	C	G	18	47134491	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.815061541414962	0.38
18	44660862	C	T	18	47134491	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.873350891451919	0.536
18	44660863	C	A	18	47134492	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	1.59790691181487E-4	0.066
18	44660863	C	G	18	47134492	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	2.97014610127851E-4	0.106
18	44660863	C	T	18	47134492	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	3.5123184908414E-4	0.058
18	44660864	T	A	18	47134493	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.198970604133091	0.26
18	44660864	T	C	18	47134493	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.0097992669101278	0.122
18	44660864	T	G	18	47134493	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220	.	.	0.161795433550369	0.222
18	44660865	A	C	18	47134494	y	y	splicing	HDHD2(NM_032124:exon4:c.310+2T>G)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.310+2T>G;ENST00000588183:exon4:c.347+2T>G;ENST00000590815:exon5:c.310+2T>G;ENST00000591480:exon4:c.283+2T>G;ENST00000586546:exon5:c.347+2T>G;ENST00000590481:exon5:c.310+2T>G;ENST00000588940:exon4:c.310+2T>G;ENST00000587388:exon5:c.310+2T>G;ENST00000591268:exon4:c.347+2T>G;ENST00000592591:exon5:c.283+2T>G)	.	.	0.999988247793601	0.914
18	44660865	A	G	18	47134494	y	y	splicing	HDHD2(NM_032124:exon4:c.310+2T>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.310+2T>C;ENST00000588183:exon4:c.347+2T>C;ENST00000590815:exon5:c.310+2T>C;ENST00000591480:exon4:c.283+2T>C;ENST00000586546:exon5:c.347+2T>C;ENST00000590481:exon5:c.310+2T>C;ENST00000588940:exon4:c.310+2T>C;ENST00000587388:exon5:c.310+2T>C;ENST00000591268:exon4:c.347+2T>C;ENST00000592591:exon5:c.283+2T>C)	.	.	0.98918007292081	0.648
18	44660865	A	T	18	47134494	y	y	splicing	HDHD2(NM_032124:exon4:c.310+2T>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.310+2T>A;ENST00000588183:exon4:c.347+2T>A;ENST00000590815:exon5:c.310+2T>A;ENST00000591480:exon4:c.283+2T>A;ENST00000586546:exon5:c.347+2T>A;ENST00000590481:exon5:c.310+2T>A;ENST00000588940:exon4:c.310+2T>A;ENST00000587388:exon5:c.310+2T>A;ENST00000591268:exon4:c.347+2T>A;ENST00000592591:exon5:c.283+2T>A)	.	.	0.999988247793601	0.926
18	44660866	C	A	18	47134495	y	y	splicing	HDHD2(NM_032124:exon4:c.310+1G>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.310+1G>T;ENST00000588183:exon4:c.347+1G>T;ENST00000590815:exon5:c.310+1G>T;ENST00000591480:exon4:c.283+1G>T;ENST00000586546:exon5:c.347+1G>T;ENST00000590481:exon5:c.310+1G>T;ENST00000588940:exon4:c.310+1G>T;ENST00000587388:exon5:c.310+1G>T;ENST00000591268:exon4:c.347+1G>T;ENST00000592591:exon5:c.283+1G>T)	.	.	0.999990361384395	0.938
18	44660866	C	G	18	47134495	y	y	splicing	HDHD2(NM_032124:exon4:c.310+1G>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.310+1G>C;ENST00000588183:exon4:c.347+1G>C;ENST00000590815:exon5:c.310+1G>C;ENST00000591480:exon4:c.283+1G>C;ENST00000586546:exon5:c.347+1G>C;ENST00000590481:exon5:c.310+1G>C;ENST00000588940:exon4:c.310+1G>C;ENST00000587388:exon5:c.310+1G>C;ENST00000591268:exon4:c.347+1G>C;ENST00000592591:exon5:c.283+1G>C)	.	.	0.999990361384395	0.938
18	44660866	C	T	18	47134495	y	y	splicing	HDHD2(NM_032124:exon4:c.310+1G>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.310+1G>A;ENST00000588183:exon4:c.347+1G>A;ENST00000590815:exon5:c.310+1G>A;ENST00000591480:exon4:c.283+1G>A;ENST00000586546:exon5:c.347+1G>A;ENST00000590481:exon5:c.310+1G>A;ENST00000588940:exon4:c.310+1G>A;ENST00000587388:exon5:c.310+1G>A;ENST00000591268:exon4:c.347+1G>A;ENST00000592591:exon5:c.283+1G>A)	.	.	0.999990361384395	0.938
18	44660867	C	A	18	47134496	y	y	exonic	HDHD2	stopgain SNV	HDHD2:NM_032124:exon3:c.G310T:p.G104X;	exonic	ENSG00000167220	stopgain SNV	ENSG00000167220:ENST00000591480:exon3:c.G283T:p.G95X;ENSG00000167220:ENST00000300605:exon3:c.G310T:p.G104X;ENSG00000167220:ENST00000587388:exon4:c.G310T:p.G104X;ENSG00000167220:ENST00000588940:exon3:c.G310T:p.G104X;ENSG00000167220:ENST00000590481:exon4:c.G310T:p.G104X;ENSG00000167220:ENST00000592591:exon4:c.G283T:p.G95X;ENSG00000167220:ENST00000590815:exon4:c.G310T:p.G104X;	0.999985847373154	1.0
18	44660867	C	G	18	47134496	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.G310C:p.G104R;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon3:c.G283C:p.G95R;ENSG00000167220:ENST00000300605:exon3:c.G310C:p.G104R;ENSG00000167220:ENST00000587388:exon4:c.G310C:p.G104R;ENSG00000167220:ENST00000588940:exon3:c.G310C:p.G104R;ENSG00000167220:ENST00000590481:exon4:c.G310C:p.G104R;ENSG00000167220:ENST00000592591:exon4:c.G283C:p.G95R;ENSG00000167220:ENST00000590815:exon4:c.G310C:p.G104R;	0.999998009519537	1.0
18	44660867	C	T	18	47134496	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.G310A:p.G104R;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon3:c.G283A:p.G95R;ENSG00000167220:ENST00000300605:exon3:c.G310A:p.G104R;ENSG00000167220:ENST00000587388:exon4:c.G310A:p.G104R;ENSG00000167220:ENST00000588940:exon3:c.G310A:p.G104R;ENSG00000167220:ENST00000590481:exon4:c.G310A:p.G104R;ENSG00000167220:ENST00000592591:exon4:c.G283A:p.G95R;ENSG00000167220:ENST00000590815:exon4:c.G310A:p.G104R;	0.999983193103222	0.998
18	44660868	T	A	18	47134497	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.A309T:p.K103N;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon3:c.A282T:p.K94N;ENSG00000167220:ENST00000300605:exon3:c.A309T:p.K103N;ENSG00000167220:ENST00000587388:exon4:c.A309T:p.K103N;ENSG00000167220:ENST00000588940:exon3:c.A309T:p.K103N;ENSG00000167220:ENST00000590481:exon4:c.A309T:p.K103N;ENSG00000167220:ENST00000592591:exon4:c.A282T:p.K94N;ENSG00000167220:ENST00000590815:exon4:c.A309T:p.K103N;	0.943870179516831	0.78
18	44660868	T	C	18	47134497	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon3:c.A309G:p.K103K;	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000591480:exon3:c.A282G:p.K94K;ENSG00000167220:ENST00000300605:exon3:c.A309G:p.K103K;ENSG00000167220:ENST00000587388:exon4:c.A309G:p.K103K;ENSG00000167220:ENST00000588940:exon3:c.A309G:p.K103K;ENSG00000167220:ENST00000590481:exon4:c.A309G:p.K103K;ENSG00000167220:ENST00000592591:exon4:c.A282G:p.K94K;ENSG00000167220:ENST00000590815:exon4:c.A309G:p.K103K;	0.98006910499734	0.776
18	44660868	T	G	18	47134497	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.A309C:p.K103N;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon3:c.A282C:p.K94N;ENSG00000167220:ENST00000300605:exon3:c.A309C:p.K103N;ENSG00000167220:ENST00000587388:exon4:c.A309C:p.K103N;ENSG00000167220:ENST00000588940:exon3:c.A309C:p.K103N;ENSG00000167220:ENST00000590481:exon4:c.A309C:p.K103N;ENSG00000167220:ENST00000592591:exon4:c.A282C:p.K94N;ENSG00000167220:ENST00000590815:exon4:c.A309C:p.K103N;	0.769640633499814	0.742
18	44660869	T	A	18	47134498	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.A308T:p.K103I;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon3:c.A281T:p.K94I;ENSG00000167220:ENST00000300605:exon3:c.A308T:p.K103I;ENSG00000167220:ENST00000587388:exon4:c.A308T:p.K103I;ENSG00000167220:ENST00000588940:exon3:c.A308T:p.K103I;ENSG00000167220:ENST00000590481:exon4:c.A308T:p.K103I;ENSG00000167220:ENST00000592591:exon4:c.A281T:p.K94I;ENSG00000167220:ENST00000590815:exon4:c.A308T:p.K103I;	0.0700867595232849	0.438
18	44660869	T	C	18	47134498	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.A308G:p.K103R;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon3:c.A281G:p.K94R;ENSG00000167220:ENST00000300605:exon3:c.A308G:p.K103R;ENSG00000167220:ENST00000587388:exon4:c.A308G:p.K103R;ENSG00000167220:ENST00000588940:exon3:c.A308G:p.K103R;ENSG00000167220:ENST00000590481:exon4:c.A308G:p.K103R;ENSG00000167220:ENST00000592591:exon4:c.A281G:p.K94R;ENSG00000167220:ENST00000590815:exon4:c.A308G:p.K103R;	3.99902998545285E-4	0.012
18	44660869	T	G	18	47134498	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.A308C:p.K103T;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000591480:exon3:c.A281C:p.K94T;ENSG00000167220:ENST00000300605:exon3:c.A308C:p.K103T;ENSG00000167220:ENST00000587388:exon4:c.A308C:p.K103T;ENSG00000167220:ENST00000588940:exon3:c.A308C:p.K103T;ENSG00000167220:ENST00000590481:exon4:c.A308C:p.K103T;ENSG00000167220:ENST00000592591:exon4:c.A281C:p.K94T;ENSG00000167220:ENST00000590815:exon4:c.A308C:p.K103T;	7.27291457104566E-5	0.002
18	44661074	A	C	18	47134703	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.T103G:p.L35V;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon4:c.T140G:p.V47G;ENSG00000167220:ENST00000300605:exon3:c.T103G:p.L35V;ENSG00000167220:ENST00000588183:exon3:c.T140G:p.V47G;ENSG00000167220:ENST00000591268:exon3:c.T140G:p.V47G;ENSG00000167220:ENST00000587388:exon4:c.T103G:p.L35V;ENSG00000167220:ENST00000588940:exon3:c.T103G:p.L35V;ENSG00000167220:ENST00000590481:exon4:c.T103G:p.L35V;ENSG00000167220:ENST00000590815:exon4:c.T103G:p.L35V;	0.112780977312806	0.212
18	44661074	A	G	18	47134703	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon3:c.T103C:p.L35L;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon4:c.T140C:p.V47A;ENSG00000167220:ENST00000588183:exon3:c.T140C:p.V47A;ENSG00000167220:ENST00000591268:exon3:c.T140C:p.V47A;	0.00182278181779584	0.142
18	44661074	A	T	18	47134703	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.T103A:p.L35I;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon4:c.T140A:p.V47D;ENSG00000167220:ENST00000300605:exon3:c.T103A:p.L35I;ENSG00000167220:ENST00000588183:exon3:c.T140A:p.V47D;ENSG00000167220:ENST00000591268:exon3:c.T140A:p.V47D;ENSG00000167220:ENST00000587388:exon4:c.T103A:p.L35I;ENSG00000167220:ENST00000588940:exon3:c.T103A:p.L35I;ENSG00000167220:ENST00000590481:exon4:c.T103A:p.L35I;ENSG00000167220:ENST00000590815:exon4:c.T103A:p.L35I;	0.007857536562416	0.052
18	44661075	C	A	18	47134704	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.G102T:p.R34S;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon4:c.G139T:p.V47F;ENSG00000167220:ENST00000300605:exon3:c.G102T:p.R34S;ENSG00000167220:ENST00000588183:exon3:c.G139T:p.V47F;ENSG00000167220:ENST00000591268:exon3:c.G139T:p.V47F;ENSG00000167220:ENST00000587388:exon4:c.G102T:p.R34S;ENSG00000167220:ENST00000588940:exon3:c.G102T:p.R34S;ENSG00000167220:ENST00000590481:exon4:c.G102T:p.R34S;ENSG00000167220:ENST00000590815:exon4:c.G102T:p.R34S;	0.683202430230647	0.47
18	44661075	C	G	18	47134704	y	y	exonic	HDHD2	nonsynonymous SNV	HDHD2:NM_032124:exon3:c.G102C:p.R34S;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon4:c.G139C:p.V47L;ENSG00000167220:ENST00000300605:exon3:c.G102C:p.R34S;ENSG00000167220:ENST00000588183:exon3:c.G139C:p.V47L;ENSG00000167220:ENST00000591268:exon3:c.G139C:p.V47L;ENSG00000167220:ENST00000587388:exon4:c.G102C:p.R34S;ENSG00000167220:ENST00000588940:exon3:c.G102C:p.R34S;ENSG00000167220:ENST00000590481:exon4:c.G102C:p.R34S;ENSG00000167220:ENST00000590815:exon4:c.G102C:p.R34S;	0.14783998721711	0.422
18	44661075	C	T	18	47134704	y	y	exonic	HDHD2	synonymous SNV	HDHD2:NM_032124:exon3:c.G102A:p.R34R;	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon4:c.G139A:p.V47I;ENSG00000167220:ENST00000588183:exon3:c.G139A:p.V47I;ENSG00000167220:ENST00000591268:exon3:c.G139A:p.V47I;	0.0164429171726155	0.23
18	44661076	C	A	18	47134705	y	y	splicing	HDHD2(NM_032124:exon4:c.102-1G>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.102-1G>T;ENST00000588183:exon4:c.139-1G>T;ENST00000590815:exon5:c.102-1G>T;ENST00000586546:exon5:c.139-1G>T;ENST00000590481:exon5:c.102-1G>T;ENST00000588940:exon4:c.102-1G>T;ENST00000587388:exon5:c.102-1G>T;ENST00000591268:exon4:c.139-1G>T);ENSG00000267228(ENST00000588705:exon7:c.509-1G>T;ENST00000602926:exon4:c.240-1G>T;ENST00000602459:exon4:c.203-1G>T)	.	.	0.999958003653399	0.798
18	44661076	C	G	18	47134705	y	y	splicing	HDHD2(NM_032124:exon4:c.102-1G>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.102-1G>C;ENST00000588183:exon4:c.139-1G>C;ENST00000590815:exon5:c.102-1G>C;ENST00000586546:exon5:c.139-1G>C;ENST00000590481:exon5:c.102-1G>C;ENST00000588940:exon4:c.102-1G>C;ENST00000587388:exon5:c.102-1G>C;ENST00000591268:exon4:c.139-1G>C);ENSG00000267228(ENST00000588705:exon7:c.509-1G>C;ENST00000602926:exon4:c.240-1G>C;ENST00000602459:exon4:c.203-1G>C)	.	.	0.999958003653399	0.802
18	44661076	C	T	18	47134705	y	y	splicing	HDHD2(NM_032124:exon4:c.102-1G>A)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.102-1G>A;ENST00000588183:exon4:c.139-1G>A;ENST00000590815:exon5:c.102-1G>A;ENST00000586546:exon5:c.139-1G>A;ENST00000590481:exon5:c.102-1G>A;ENST00000588940:exon4:c.102-1G>A;ENST00000587388:exon5:c.102-1G>A;ENST00000591268:exon4:c.139-1G>A);ENSG00000267228(ENST00000588705:exon7:c.509-1G>A;ENST00000602926:exon4:c.240-1G>A;ENST00000602459:exon4:c.203-1G>A)	.	.	0.999958003653399	0.842
18	44661077	T	A	18	47134706	y	y	splicing	HDHD2(NM_032124:exon4:c.102-2A>T)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.102-2A>T;ENST00000588183:exon4:c.139-2A>T;ENST00000590815:exon5:c.102-2A>T;ENST00000586546:exon5:c.139-2A>T;ENST00000590481:exon5:c.102-2A>T;ENST00000588940:exon4:c.102-2A>T;ENST00000587388:exon5:c.102-2A>T;ENST00000591268:exon4:c.139-2A>T);ENSG00000267228(ENST00000588705:exon7:c.509-2A>T;ENST00000602926:exon4:c.240-2A>T;ENST00000602459:exon4:c.203-2A>T)	.	.	0.999871793741964	0.81
18	44661077	T	C	18	47134706	y	y	splicing	HDHD2(NM_032124:exon4:c.102-2A>G)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.102-2A>G;ENST00000588183:exon4:c.139-2A>G;ENST00000590815:exon5:c.102-2A>G;ENST00000586546:exon5:c.139-2A>G;ENST00000590481:exon5:c.102-2A>G;ENST00000588940:exon4:c.102-2A>G;ENST00000587388:exon5:c.102-2A>G;ENST00000591268:exon4:c.139-2A>G);ENSG00000267228(ENST00000588705:exon7:c.509-2A>G;ENST00000602926:exon4:c.240-2A>G;ENST00000602459:exon4:c.203-2A>G)	.	.	0.999871793741964	0.794
18	44661077	T	G	18	47134706	y	y	splicing	HDHD2(NM_032124:exon4:c.102-2A>C)	.	.	splicing	ENSG00000167220(ENST00000300605:exon4:c.102-2A>C;ENST00000588183:exon4:c.139-2A>C;ENST00000590815:exon5:c.102-2A>C;ENST00000586546:exon5:c.139-2A>C;ENST00000590481:exon5:c.102-2A>C;ENST00000588940:exon4:c.102-2A>C;ENST00000587388:exon5:c.102-2A>C;ENST00000591268:exon4:c.139-2A>C);ENSG00000267228(ENST00000588705:exon7:c.509-2A>C;ENST00000602926:exon4:c.240-2A>C;ENST00000602459:exon4:c.203-2A>C)	.	.	0.999871793741964	0.798
18	44661078	G	A	18	47134707	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.70679482851514E-4	0.022
18	44661078	G	C	18	47134707	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.999492919456573	0.88
18	44661078	G	T	18	47134707	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.869975277326458	0.58
18	44661079	G	A	18	47134708	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.1007943389107E-5	0.0
18	44661079	G	C	18	47134708	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.2162607944739E-5	0.004
18	44661079	G	T	18	47134708	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.1007943389107E-5	0.0
18	44661080	A	C	18	47134709	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.622288166625522	0.376
18	44661080	A	G	18	47134709	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.83731832062121E-4	0.01
18	44661080	A	T	18	47134709	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.624941497852121	0.37
18	44661081	G	A	18	47134710	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.25517393701964E-5	0.012
18	44661081	G	C	18	47134710	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00650986336196676	0.164
18	44661081	G	T	18	47134710	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00475681741668896	0.124
18	44661082	A	C	18	47134711	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.344579870632385	0.312
18	44661082	A	G	18	47134711	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.42494370652137E-4	0.0
18	44661082	A	T	18	47134711	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.369669731388878	0.306
18	44661083	G	A	18	47134712	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.10939807339296E-5	0.0
18	44661083	G	C	18	47134712	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.38999522557123E-5	0.012
18	44661083	G	T	18	47134712	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.12596494783864E-4	0.004
18	44661084	G	A	18	47134713	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.16427556116979E-5	0.0
18	44661084	G	C	18	47134713	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.67999543529121E-4	0.01
18	44661084	G	T	18	47134713	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.53953370464392E-4	0.032
18	44661085	G	A	18	47134714	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	6.78978384949371E-6	0.0
18	44661085	G	C	18	47134714	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.47543295961897E-4	0.004
18	44661085	G	T	18	47134714	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.26237739763458E-4	0.034
18	44661086	C	A	18	47134715	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.02678524213262E-5	0.002
18	44661086	C	G	18	47134715	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	7.83559129380614E-6	0.0
18	44661086	C	T	18	47134715	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.236411048378E-5	0.0
18	44661087	C	A	18	47134716	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.43099908483724E-5	0.0
18	44661087	C	G	18	47134716	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	8.34999318636917E-6	0.0
18	44661087	C	T	18	47134716	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.82546879294058	0.894
18	44662665	G	A	18	47136294	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.476468871601752	.
18	44662665	G	C	18	47136294	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.503592894858551	.
18	44662665	G	T	18	47136294	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.476468871601752	.
18	44662666	C	A	18	47136295	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.990899986320856	.
18	44662666	C	G	18	47136295	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.989480892771167	.
18	44662666	C	T	18	47136295	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.990899986320856	.
18	44662667	A	C	18	47136296	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0038298703034088	.
18	44662667	A	G	18	47136296	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0038298703034088	.
18	44662667	A	T	18	47136296	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00462738491138776	.
18	44662668	C	A	18	47136297	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.990899986320856	.
18	44662668	C	G	18	47136297	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.989480892771167	.
18	44662668	C	T	18	47136297	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.990899986320856	.
18	44662669	T	A	18	47136298	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0315243785945227	.
18	44662669	T	C	18	47136298	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0426501587248467	.
18	44662669	T	G	18	47136298	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0426501587248467	.
18	44662670	T	A	18	47136299	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0200597052968761	.
18	44662670	T	C	18	47136299	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0147646671390913	.
18	44662670	T	G	18	47136299	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0147646671390913	.
18	44662671	A	C	18	47136300	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220(ENST00000588183:exon3:c.138+2T>G;ENST00000586546:exon4:c.138+2T>G;ENST00000591268:exon3:c.138+2T>G);ENSG00000267228(ENST00000602926:exon3:c.239+2T>G)	.	.	1.54700313005349E-4	.
18	44662671	A	G	18	47136300	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220(ENST00000588183:exon3:c.138+2T>C;ENST00000586546:exon4:c.138+2T>C;ENST00000591268:exon3:c.138+2T>C);ENSG00000267228(ENST00000602926:exon3:c.239+2T>C)	.	.	1.54700313005349E-4	.
18	44662671	A	T	18	47136300	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220(ENST00000588183:exon3:c.138+2T>A;ENST00000586546:exon4:c.138+2T>A;ENST00000591268:exon3:c.138+2T>A);ENSG00000267228(ENST00000602926:exon3:c.239+2T>A)	.	.	1.47424033764056E-4	.
18	44662672	C	A	18	47136301	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220(ENST00000588183:exon3:c.138+1G>T;ENST00000586546:exon4:c.138+1G>T;ENST00000591268:exon3:c.138+1G>T);ENSG00000267228(ENST00000602926:exon3:c.239+1G>T)	.	.	7.41967923157448E-4	.
18	44662672	C	G	18	47136301	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220(ENST00000588183:exon3:c.138+1G>C;ENST00000586546:exon4:c.138+1G>C;ENST00000591268:exon3:c.138+1G>C);ENSG00000267228(ENST00000602926:exon3:c.239+1G>C)	.	.	5.21047443716091E-4	.
18	44662672	C	T	18	47136301	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220(ENST00000588183:exon3:c.138+1G>A;ENST00000586546:exon4:c.138+1G>A;ENST00000591268:exon3:c.138+1G>A);ENSG00000267228(ENST00000602926:exon3:c.239+1G>A)	.	.	6.15112023277724E-4	.
18	44662673	A	C	18	47136302	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T138G:p.F46L;ENSG00000167220:ENST00000588183:exon2:c.T138G:p.F46L;ENSG00000167220:ENST00000591268:exon2:c.T138G:p.F46L;	0.893659289421295	.
18	44662673	A	G	18	47136302	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	synonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T138C:p.F46F;ENSG00000167220:ENST00000588183:exon2:c.T138C:p.F46F;ENSG00000167220:ENST00000591268:exon2:c.T138C:p.F46F;	0.893659289421295	.
18	44662673	A	T	18	47136302	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T138A:p.F46L;ENSG00000167220:ENST00000588183:exon2:c.T138A:p.F46L;ENSG00000167220:ENST00000591268:exon2:c.T138A:p.F46L;	0.893659289421295	.
18	44662674	A	C	18	47136303	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T137G:p.F46C;ENSG00000167220:ENST00000588183:exon2:c.T137G:p.F46C;ENSG00000167220:ENST00000591268:exon2:c.T137G:p.F46C;	0.0315243785945227	.
18	44662674	A	G	18	47136303	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T137C:p.F46S;ENSG00000167220:ENST00000588183:exon2:c.T137C:p.F46S;ENSG00000167220:ENST00000591268:exon2:c.T137C:p.F46S;	0.0315243785945227	.
18	44662674	A	T	18	47136303	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T137A:p.F46Y;ENSG00000167220:ENST00000588183:exon2:c.T137A:p.F46Y;ENSG00000167220:ENST00000591268:exon2:c.T137A:p.F46Y;	0.0363122715472335	.
18	44662675	A	C	18	47136304	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T136G:p.F46V;ENSG00000167220:ENST00000588183:exon2:c.T136G:p.F46V;ENSG00000167220:ENST00000591268:exon2:c.T136G:p.F46V;	0.0363122715472335	.
18	44662675	A	G	18	47136304	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T136C:p.F46L;ENSG00000167220:ENST00000588183:exon2:c.T136C:p.F46L;ENSG00000167220:ENST00000591268:exon2:c.T136C:p.F46L;	0.0363122715472335	.
18	44662675	A	T	18	47136304	n	y	intronic	HDHD2	.	.	exonic	ENSG00000167220	nonsynonymous SNV	ENSG00000167220:ENST00000586546:exon3:c.T136A:p.F46I;ENSG00000167220:ENST00000588183:exon2:c.T136A:p.F46I;ENSG00000167220:ENST00000591268:exon2:c.T136A:p.F46I;	0.0363122715472335	.
18	44662819	C	A	18	47136448	y	y	UTR5	HDHD2	.	.	exonic	ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000602926:exon2:c.G93T:p.R31S;ENSG00000267228:ENST00000602459:exon2:c.G93T:p.R31S;	0.00158924212216481	0.036
18	44662819	C	G	18	47136448	y	y	UTR5	HDHD2	.	.	exonic	ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000602926:exon2:c.G93C:p.R31S;ENSG00000267228:ENST00000602459:exon2:c.G93C:p.R31S;	0.00183856690076719	0.08
18	44662819	C	T	18	47136448	y	y	UTR5	HDHD2	.	.	exonic	ENSG00000267228	synonymous SNV	ENSG00000267228:ENST00000602926:exon2:c.G93A:p.R31R;ENSG00000267228:ENST00000602459:exon2:c.G93A:p.R31R;	0.00224569610904977	0.09
18	44662820	C	A	18	47136449	y	y	UTR5	HDHD2	.	.	exonic	ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000602926:exon2:c.G92T:p.R31M;ENSG00000267228:ENST00000602459:exon2:c.G92T:p.R31M;	0.99618805781229	0.886
18	44662820	C	G	18	47136449	y	y	UTR5	HDHD2	.	.	exonic	ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000602926:exon2:c.G92C:p.R31T;ENSG00000267228:ENST00000602459:exon2:c.G92C:p.R31T;	0.991766225614008	0.812
18	44662820	C	T	18	47136449	y	y	UTR5	HDHD2	.	.	exonic	ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000602926:exon2:c.G92A:p.R31K;ENSG00000267228:ENST00000602459:exon2:c.G92A:p.R31K;	0.926220094654485	0.662
18	44662821	C	A	18	47136450	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220;ENSG00000267228(ENST00000588705:exon6:c.398-1G>T;ENST00000602926:exon3:c.92-1G>T;ENST00000602459:exon3:c.92-1G>T)	.	.	0.999990361384395	0.938
18	44662821	C	G	18	47136450	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220;ENSG00000267228(ENST00000588705:exon6:c.398-1G>C;ENST00000602926:exon3:c.92-1G>C;ENST00000602459:exon3:c.92-1G>C)	.	.	0.999990361384395	0.938
18	44662821	C	T	18	47136450	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220;ENSG00000267228(ENST00000588705:exon6:c.398-1G>A;ENST00000602926:exon3:c.92-1G>A;ENST00000602459:exon3:c.92-1G>A)	.	.	0.999990361384395	0.938
18	44662822	T	A	18	47136451	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220;ENSG00000267228(ENST00000588705:exon6:c.398-2A>T;ENST00000602926:exon3:c.92-2A>T;ENST00000602459:exon3:c.92-2A>T)	.	.	0.999988247793601	0.928
18	44662822	T	C	18	47136451	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220;ENSG00000267228(ENST00000588705:exon6:c.398-2A>G;ENST00000602926:exon3:c.92-2A>G;ENST00000602459:exon3:c.92-2A>G)	.	.	0.999988247793601	0.922
18	44662822	T	G	18	47136451	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220;ENSG00000267228(ENST00000588705:exon6:c.398-2A>C;ENST00000602926:exon3:c.92-2A>C;ENST00000602459:exon3:c.92-2A>C)	.	.	0.999988247793601	0.928
18	44662823	A	C	18	47136452	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.99969062461663	0.834
18	44662823	A	G	18	47136452	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.97623980443167E-4	0.006
18	44662823	A	T	18	47136452	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.178452235464923	0.286
18	44662824	G	A	18	47136453	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00149184854994468	0.066
18	44662824	G	C	18	47136453	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00343622820570745	0.072
18	44662824	G	T	18	47136453	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00206607360401966	0.066
18	44662825	G	A	18	47136454	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00223694363059949	0.022
18	44662825	G	C	18	47136454	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.26252678086678	0.374
18	44662825	G	T	18	47136454	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.152795733237853	0.298
18	44662826	A	C	18	47136455	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.566611667034901	0.364
18	44662826	A	G	18	47136455	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00907287915088388	0.066
18	44662826	A	T	18	47136455	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.427064873518897	0.31
18	44662827	G	A	18	47136456	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00312817316855705	0.06
18	44662827	G	C	18	47136456	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0197425850333974	0.216
18	44662827	G	T	18	47136456	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.143236873041457	0.268
18	44662828	A	C	18	47136457	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0243409326903208	0.174
18	44662828	A	G	18	47136457	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00469815620303866	0.06
18	44662828	A	T	18	47136457	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0872098146116276	0.26
18	44662829	G	A	18	47136458	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0933948025160059	0.44
18	44662829	G	C	18	47136458	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0693541955744012	0.276
18	44662829	G	T	18	47136458	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.099975486368846	0.302
18	44662830	A	C	18	47136459	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.982015197350729	0.708
18	44662830	A	G	18	47136459	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.467760619952909	0.498
18	44662830	A	T	18	47136459	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.979111533046567	0.706
18	44662831	G	A	18	47136460	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.965887832463187	0.778
18	44662831	G	C	18	47136460	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.980275581320605	0.68
18	44662831	G	T	18	47136460	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.977910719734582	0.702
18	44662832	C	A	18	47136461	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00556000064362934	0.086
18	44662832	C	G	18	47136461	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00586937551656432	0.058
18	44662832	C	T	18	47136461	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00812398458740613	0.07
18	44663666	G	A	18	47137295	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.08739841361144E-4	0.008
18	44663666	G	C	18	47137295	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.69884688945688E-4	0.008
18	44663666	G	T	18	47137295	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.69884688945688E-4	0.012
18	44663667	T	A	18	47137296	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.4076558401562E-4	0.008
18	44663667	T	C	18	47137296	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.08739841361144E-4	0.008
18	44663667	T	G	18	47137296	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.08739841361144E-4	0.008
18	44663668	C	A	18	47137297	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.08739841361144E-4	0.006
18	44663668	C	G	18	47137297	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.08739841361144E-4	0.008
18	44663668	C	T	18	47137297	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.08739841361144E-4	0.006
18	44663669	T	A	18	47137298	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.4076558401562E-4	0.008
18	44663669	T	C	18	47137298	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.08739841361144E-4	0.008
18	44663669	T	G	18	47137298	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.08739841361144E-4	0.008
18	44663670	A	C	18	47137299	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.69884688945688E-4	0.014
18	44663670	A	G	18	47137299	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.69884688945688E-4	0.022
18	44663670	A	T	18	47137299	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.69884688945688E-4	0.01
18	44663671	G	A	18	47137300	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.58927937202005E-5	0.002
18	44663671	G	C	18	47137300	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.58927937202005E-5	0.002
18	44663671	G	T	18	47137300	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.58927937202005E-5	0.002
18	44663672	C	A	18	47137301	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.58927937202005E-5	0.002
18	44663672	C	G	18	47137301	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.58927937202005E-5	0.002
18	44663672	C	T	18	47137301	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.58927937202005E-5	0.002
18	44663673	G	A	18	47137302	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.78864525412067E-5	0.0
18	44663673	G	C	18	47137302	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.45277156108894E-5	0.0
18	44663673	G	T	18	47137302	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.78864525412067E-5	0.0
18	44663674	A	C	18	47137303	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.27163650926202E-4	0.022
18	44663674	A	G	18	47137303	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.27163650926202E-4	0.02
18	44663674	A	T	18	47137303	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.27163650926202E-4	0.02
18	44663675	A	C	18	47137304	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.018
18	44663675	A	G	18	47137304	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.018
18	44663675	A	T	18	47137304	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.27163650926202E-4	0.02
18	44663676	A	C	18	47137305	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.99373255183416E-4	0.02
18	44663676	A	G	18	47137305	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.018
18	44663676	A	T	18	47137305	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.27163650926202E-4	0.02
18	44663677	A	C	18	47137306	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.27163650926202E-4	0.024
18	44663677	A	G	18	47137306	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.27163650926202E-4	0.02
18	44663677	A	T	18	47137306	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.69884688945688E-4	0.014
18	44663678	G	A	18	47137307	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.014
18	44663678	G	C	18	47137307	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.014
18	44663678	G	T	18	47137307	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.014
18	44663679	G	A	18	47137308	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.014
18	44663679	G	C	18	47137308	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.014
18	44663679	G	T	18	47137308	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.57123356397867E-5	0.014
18	44663708	T	A	18	47137337	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.4076558401562E-4	0.008
18	44663708	T	C	18	47137337	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.08739841361144E-4	0.008
18	44663708	T	G	18	47137337	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.08739841361144E-4	0.008
18	44663709	T	A	18	47137338	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.08739841361144E-4	0.01
18	44663709	T	C	18	47137338	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.08739841361144E-4	0.012
18	44663709	T	G	18	47137338	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.08739841361144E-4	0.01
18	44663710	C	A	18	47137339	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.00925306948278E-4	0.0
18	44663710	C	G	18	47137339	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	5.5529151830241E-5	0.0
18	44663710	C	T	18	47137339	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.00925306948278E-4	0.0
18	44663711	T	A	18	47137340	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.00925306948278E-4	0.002
18	44663711	T	C	18	47137340	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	5.5529151830241E-5	0.002
18	44663711	T	G	18	47137340	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	5.5529151830241E-5	0.002
18	44663712	T	A	18	47137341	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.08739841361144E-4	0.014
18	44663712	T	C	18	47137341	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.69884688945688E-4	0.01
18	44663712	T	G	18	47137341	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.69884688945688E-4	0.01
18	44663713	A	C	18	47137342	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.71486889510802E-5	0.006
18	44663713	A	G	18	47137342	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.71486889510802E-5	0.006
18	44663713	A	T	18	47137342	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	7.42544334184685E-5	0.008
18	44663714	C	A	18	47137343	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.99153316237132E-5	0.0
18	44663714	C	G	18	47137343	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.99153316237132E-5	0.0
18	44663714	C	T	18	47137343	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.07620641825897E-5	0.0
18	44663715	A	C	18	47137344	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.07620641825897E-5	0.0
18	44663715	A	G	18	47137344	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.07620641825897E-5	0.0
18	44663715	A	T	18	47137344	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.07620641825897E-5	0.0
18	44663716	G	A	18	47137345	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663716	G	C	18	47137345	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.016
18	44663716	G	T	18	47137345	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663717	A	C	18	47137346	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663717	A	G	18	47137346	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663717	A	T	18	47137346	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663718	C	A	18	47137347	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663718	C	G	18	47137347	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663718	C	T	18	47137347	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.012
18	44663719	C	A	18	47137348	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.42005417025298E-5	0.0
18	44663719	C	G	18	47137348	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.42005417025298E-5	0.0
18	44663719	C	T	18	47137348	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.42005417025298E-5	0.0
18	44663720	A	C	18	47137349	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663720	A	G	18	47137349	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663720	A	T	18	47137349	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663721	A	C	18	47137350	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663721	A	G	18	47137350	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44663721	A	T	18	47137350	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.27163650926202E-4	0.02
18	44675412	A	C	18	47149041	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.17119222840784E-5	0.002
18	44675412	A	G	18	47149041	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.14971862334513E-5	0.002
18	44675412	A	T	18	47149041	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.17119222840784E-5	0.002
18	44675413	G	A	18	47149042	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.6857887130806E-5	0.006
18	44675413	G	C	18	47149042	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.03359245426808E-5	0.004
18	44675413	G	T	18	47149042	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.03359245426808E-5	0.004
18	44675414	T	A	18	47149043	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.22788067510469E-5	0.0
18	44675414	T	C	18	47149043	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.22788067510469E-5	0.01
18	44675414	T	G	18	47149043	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.22788067510469E-5	0.008
18	44675415	A	C	18	47149044	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.62931229539123E-4	0.002
18	44675415	A	G	18	47149044	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.62931229539123E-4	0.002
18	44675415	A	T	18	47149044	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.96104659092619E-4	0.002
18	44675416	A	C	18	47149045	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.01559384236425E-5	0.006
18	44675416	A	G	18	47149045	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.01559384236425E-5	0.004
18	44675416	A	T	18	47149045	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.01405895405358E-5	0.008
18	44675417	T	A	18	47149046	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.46004206284423E-5	0.0
18	44675417	T	C	18	47149046	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.46004206284423E-5	0.0
18	44675417	T	G	18	47149046	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.46004206284423E-5	0.0
18	44675418	A	C	18	47149047	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.07620641825897E-5	0.0
18	44675418	A	G	18	47149047	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.07620641825897E-5	0.0
18	44675418	A	T	18	47149047	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.07620641825897E-5	0.0
18	44675419	C	A	18	47149048	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.71811775086873E-5	0.008
18	44675419	C	G	18	47149048	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.71811775086873E-5	0.002
18	44675419	C	T	18	47149048	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.71811775086873E-5	0.024
18	44675420	C	A	18	47149049	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.30338091304305E-5	0.0
18	44675420	C	G	18	47149049	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.30338091304305E-5	0.0
18	44675420	C	T	18	47149049	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.30338091304305E-5	0.0
18	44675421	T	A	18	47149050	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.68219155180855E-5	0.0
18	44675421	T	C	18	47149050	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.68219155180855E-5	0.0
18	44675421	T	G	18	47149050	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.68219155180855E-5	0.0
18	44675422	A	C	18	47149051	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.45277156108894E-5	0.0
18	44675422	A	G	18	47149051	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	2.45277156108894E-5	0.0
18	44675422	A	T	18	47149051	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	3.78864525412067E-5	0.0
18	44675478	G	A	18	47149107	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	8.13951347297017E-5	0.008
18	44675478	G	C	18	47149107	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	8.13951347297017E-5	0.0
18	44675478	G	T	18	47149107	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	8.13951347297017E-5	0.0
18	44675479	G	A	18	47149108	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	4.68952365742707E-5	0.004
18	44675479	G	C	18	47149108	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	6.270921211638E-5	0.006
18	44675479	G	T	18	47149108	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	6.270921211638E-5	0.024
18	44675480	C	A	18	47149109	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.03359245426808E-5	0.004
18	44675480	C	G	18	47149109	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.03359245426808E-5	0.004
18	44675480	C	T	18	47149109	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	3.03359245426808E-5	0.004
18	44675481	T	A	18	47149110	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.46004206284423E-5	0.0
18	44675481	T	C	18	47149110	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.46004206284423E-5	0.0
18	44675481	T	G	18	47149110	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.46004206284423E-5	0.0
18	44675482	G	A	18	47149111	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.36389531769141E-5	0.032
18	44675482	G	C	18	47149111	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.36389531769141E-5	0.032
18	44675482	G	T	18	47149111	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.36389531769141E-5	0.032
18	44675483	G	A	18	47149112	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.86431456331734E-5	0.0
18	44675483	G	C	18	47149112	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.86431456331734E-5	0.0
18	44675483	G	T	18	47149112	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.86431456331734E-5	0.0
18	44675484	G	A	18	47149113	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.01163773767764E-5	0.0
18	44675484	G	C	18	47149113	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.86431456331734E-5	0.0
18	44675484	G	T	18	47149113	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.01163773767764E-5	0.0
18	44675485	A	C	18	47149114	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.31929338280547E-5	0.0
18	44675485	A	G	18	47149114	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.31929338280547E-5	0.0
18	44675485	A	T	18	47149114	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	4.72863585454216E-5	0.006
18	44675486	G	A	18	47149115	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.39252418165826E-5	0.004
18	44675486	G	C	18	47149115	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.54891418683785E-5	0.004
18	44675486	G	T	18	47149115	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.39252418165826E-5	0.026
18	44675487	A	C	18	47149116	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.00238715200698E-5	0.0
18	44675487	A	G	18	47149116	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.00238715200698E-5	0.0
18	44675487	A	T	18	47149116	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.08159923002108E-5	0.004
18	44675488	G	A	18	47149117	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.79815302939872E-5	0.0
18	44675488	G	C	18	47149117	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.45892698382496E-5	0.002
18	44675488	G	T	18	47149117	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.79815302939872E-5	0.0
18	44675489	A	C	18	47149118	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.45277156108894E-5	0.0
18	44675489	A	G	18	47149118	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.45277156108894E-5	0.0
18	44675489	A	T	18	47149118	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.45277156108894E-5	0.0
18	44675490	G	A	18	47149119	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.99153316237132E-5	0.002
18	44675490	G	C	18	47149119	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.99153316237132E-5	0.002
18	44675490	G	T	18	47149119	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.99153316237132E-5	0.002
18	44675491	A	C	18	47149120	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.83607598453576E-5	0.014
18	44675491	A	G	18	47149120	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.83607598453576E-5	0.014
18	44675491	A	T	18	47149120	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.83607598453576E-5	0.014
18	44676425	A	C	18	47150054	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.00796321454825E-4	0.0
18	44676425	A	G	18	47150054	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.00796321454825E-4	0.0
18	44676425	A	T	18	47150054	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.17284917348813E-4	0.004
18	44676426	A	C	18	47150055	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.32884256830347E-4	0.06
18	44676426	A	G	18	47150055	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.32884256830347E-4	0.06
18	44676426	A	T	18	47150055	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.0085592386539E-4	0.098
18	44676427	A	C	18	47150056	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.5894544003373E-4	0.012
18	44676427	A	G	18	47150056	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.5894544003373E-4	0.014
18	44676427	A	T	18	47150056	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	2.45494533938285E-4	0.002
18	44676428	C	A	18	47150057	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00480875227778561	0.018
18	44676428	C	G	18	47150057	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00332246389351122	0.014
18	44676428	C	T	18	47150057	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.00480875227778561	0.02
18	44676429	T	A	18	47150058	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.23653024754591E-5	0.002
18	44676429	T	C	18	47150058	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.36365742531413E-5	0.008
18	44676429	T	G	18	47150058	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.71941710566322E-4	0.038
18	44676430	G	A	18	47150059	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.10853470952722E-4	0.016
18	44676430	G	C	18	47150059	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	6.39826558468951E-5	0.016
18	44676430	G	T	18	47150059	n	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	7.44495988577029E-5	0.016
18	44676431	A	C	18	47150060	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	2.48380015150858E-4	0.01
18	44676431	A	G	18	47150060	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	2.48380015150858E-4	0.056
18	44676431	A	T	18	47150060	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	2.48380015150858E-4	0.006
18	44676432	C	A	18	47150061	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	2.33950268484782E-4	0.002
18	44676432	C	G	18	47150061	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	1.73401366462724E-4	0.0
18	44676432	C	T	18	47150061	n	y	intronic	HDHD2	.	.	splicing	ENSG00000167220	.	.	2.33950268484782E-4	0.0
18	44676433	C	A	18	47150062	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.2718742888798E-4	0.006
18	44676433	C	G	18	47150062	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.81532097565074E-4	0.002
18	44676433	C	T	18	47150062	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.74066808331241E-4	0.02
18	44676434	A	C	18	47150063	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.36400736801441E-5	0.0
18	44676434	A	G	18	47150063	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.36400736801441E-5	0.0
18	44676434	A	T	18	47150063	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	9.36400736801441E-5	0.0
18	44676435	G	A	18	47150064	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.0012338591716885	0.008
18	44676435	G	C	18	47150064	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.0012338591716885	0.01
18	44676435	G	T	18	47150064	n	y	intronic	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.0012338591716885	0.024
18	44676741	C	A	18	47150370	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	9.85136824417209E-5	0.014
18	44676741	C	G	18	47150370	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	5.0145379419804E-5	0.0
18	44676741	C	T	18	47150370	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.01831662468504E-4	0.004
18	44676742	T	A	18	47150371	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.034018123862198	0.146
18	44676742	T	C	18	47150371	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0149143760161758	0.124
18	44676742	T	G	18	47150371	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.0112769681366089	0.128
18	44676743	T	A	18	47150372	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	5.47109238897357E-5	0.082
18	44676743	T	C	18	47150372	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	1.76669739906863E-5	0.034
18	44676743	T	G	18	47150372	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	5.90158840976646E-5	0.088
18	44676744	C	A	18	47150373	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.999883262991568	0.964
18	44676744	C	G	18	47150373	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.999909788408806	0.976
18	44676744	C	T	18	47150373	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.999947911486562	0.984
18	44676745	T	A	18	47150374	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.999524518807315	0.84
18	44676745	T	C	18	47150374	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.999315330917734	0.85
18	44676745	T	G	18	47150374	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.995176973759579	0.758
18	44676746	C	A	18	47150375	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.959241901521451	0.474
18	44676746	C	G	18	47150375	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	0.657015542663607	0.428
18	44676746	C	T	18	47150375	y	y	intronic	HDHD2	.	.	intronic	ENSG00000167220;ENSG00000267228	.	.	3.98121428871126E-5	0.022
18	44676747	A	C	18	47150376	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220	.	.	0.999987037151818	0.954
18	44676747	A	G	18	47150376	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220	.	.	0.999990920891641	0.964
18	44676747	A	T	18	47150376	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220	.	.	0.999975719242575	0.946
18	44676748	C	A	18	47150377	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220	.	.	0.999963635533204	0.696
18	44676748	C	G	18	47150377	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220	.	.	0.999971267612723	0.706
18	44676748	C	T	18	47150377	y	y	splicing	HDHD2	.	.	splicing	ENSG00000167220	.	.	0.999963635533204	0.702
18	44676749	C	A	18	47150378	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.999956261495009	0.99
18	44676749	C	G	18	47150378	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.999914504320695	0.922
18	44676749	C	T	18	47150378	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.999983204622958	1.0
18	44676750	C	A	18	47150379	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.00274272614213929	0.06
18	44676750	C	G	18	47150379	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.00903446925992064	0.092
18	44676750	C	T	18	47150379	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	0.00108902079884851	0.1
18	44676751	A	C	18	47150380	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.17145395391769E-4	0.084
18	44676751	A	G	18	47150380	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.78778313796105E-5	0.002
18	44676751	A	T	18	47150380	y	y	UTR5	HDHD2	.	.	UTR5	ENSG00000167220	.	.	1.78778313796105E-5	0.0
18	44681162	C	A	18	47154791	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.82309039396057E-5	0.014
18	44681162	C	G	18	47154791	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.82309039396057E-5	0.014
18	44681162	C	T	18	47154791	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.82309039396057E-5	0.014
18	44681163	T	A	18	47154792	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	4.92559286361592E-5	0.022
18	44681163	T	C	18	47154792	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	4.92559286361592E-5	0.02
18	44681163	T	G	18	47154792	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	4.92559286361592E-5	0.02
18	44681164	T	A	18	47154793	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	2.08325633601962E-5	0.002
18	44681164	T	C	18	47154793	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	2.08325633601962E-5	0.002
18	44681164	T	G	18	47154793	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	2.08325633601962E-5	0.002
18	44681165	A	C	18	47154794	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.73686617846189E-5	0.008
18	44681165	A	G	18	47154794	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.73686617846189E-5	0.008
18	44681165	A	T	18	47154794	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	2.68284073685752E-5	0.008
18	44681166	A	C	18	47154795	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	9.48031590158405E-6	0.008
18	44681166	A	G	18	47154795	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	9.48031590158405E-6	0.006
18	44681166	A	T	18	47154795	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	9.48031590158405E-6	0.006
18	44681167	T	A	18	47154796	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	0.00152996819497549	0.022
18	44681167	T	C	18	47154796	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	0.00152996819497549	0.038
18	44681167	T	G	18	47154796	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	0.00152996819497549	0.036
18	44681168	A	C	18	47154797	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.397+2T>G)	.	.	4.29460325326479E-5	0.16
18	44681168	A	G	18	47154797	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.397+2T>C)	.	.	4.29460325326479E-5	0.16
18	44681168	A	T	18	47154797	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.397+2T>A)	.	.	4.29460325326479E-5	0.2
18	44681169	C	A	18	47154798	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.397+1G>T)	.	.	2.83607598453576E-5	0.014
18	44681169	C	G	18	47154798	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.397+1G>C)	.	.	2.83607598453576E-5	0.014
18	44681169	C	T	18	47154798	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.397+1G>A)	.	.	5.90810944018671E-5	0.02
18	44681170	C	A	18	47154799	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	9.57123356397867E-5	0.016
18	44681170	C	G	18	47154799	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	9.57123356397867E-5	0.014
18	44681170	C	T	18	47154799	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	2.27163650926202E-4	0.022
18	44681171	T	A	18	47154800	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	4.32880881212684E-4	0.012
18	44681171	T	C	18	47154800	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	2.38206837572038E-4	0.012
18	44681171	T	G	18	47154800	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	2.38206837572038E-4	0.012
18	44681172	G	A	18	47154801	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	3.47216650607702E-5	0.002
18	44681172	G	C	18	47154801	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	3.21788430707588E-5	0.002
18	44681172	G	T	18	47154801	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	3.21788430707588E-5	0.002
18	44681257	C	A	18	47154886	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	3.68899558695176E-5	0.116
18	44681257	C	G	18	47154886	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	3.68899558695176E-5	0.116
18	44681257	C	T	18	47154886	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	3.68899558695176E-5	0.116
18	44681258	A	C	18	47154887	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	2.55705114011452E-5	0.0
18	44681258	A	G	18	47154887	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	2.55705114011452E-5	0.0
18	44681258	A	T	18	47154887	n	y	downstream	IER3IP1	.	.	UTR3	ENSG00000267228	.	.	2.55705114011452E-5	0.0
18	44681259	C	A	18	47154888	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.309-1G>T)	.	.	3.65208131549728E-5	0.004
18	44681259	C	G	18	47154888	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.309-1G>C)	.	.	3.65208131549728E-5	0.02
18	44681259	C	T	18	47154888	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.309-1G>A)	.	.	2.66835578245131E-5	0.004
18	44681260	T	A	18	47154889	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.309-2A>T)	.	.	2.44013833936652E-5	0.142
18	44681260	T	C	18	47154889	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.309-2A>G)	.	.	2.44013833936652E-5	0.142
18	44681260	T	G	18	47154889	n	y	downstream	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon5:c.309-2A>C)	.	.	2.44013833936652E-5	0.142
18	44681261	G	A	18	47154890	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.83986519288603E-5	0.0
18	44681261	G	C	18	47154890	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.83986519288603E-5	0.0
18	44681261	G	T	18	47154890	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.83986519288603E-5	0.0
18	44681262	A	C	18	47154891	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.15668733127979E-5	0.006
18	44681262	A	G	18	47154891	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.15668733127979E-5	0.006
18	44681262	A	T	18	47154891	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.15668733127979E-5	0.024
18	44681263	A	C	18	47154892	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	8.90177193295887E-6	0.008
18	44681263	A	G	18	47154892	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	8.90177193295887E-6	0.006
18	44681263	A	T	18	47154892	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.37501361942679E-5	0.006
18	44681264	G	A	18	47154893	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	7.04290327727273E-6	0.0
18	44681264	G	C	18	47154893	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.28765212796676E-5	0.0
18	44681264	G	T	18	47154893	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	7.04290327727273E-6	0.0
18	44681265	A	C	18	47154894	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.52706805797628E-5	0.0
18	44681265	A	G	18	47154894	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.52706805797628E-5	0.0
18	44681265	A	T	18	47154894	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.52706805797628E-5	0.0
18	44681266	A	C	18	47154895	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	3.42206730061288E-5	0.004
18	44681266	A	G	18	47154895	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	3.42206730061288E-5	0.004
18	44681266	A	T	18	47154895	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	6.21978182991299E-5	0.004
18	44681267	A	C	18	47154896	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	6.15375833761304E-4	0.008
18	44681267	A	G	18	47154896	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	6.15375833761304E-4	0.008
18	44681267	A	T	18	47154896	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	6.28142436578071E-4	0.006
18	44681268	A	C	18	47154897	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.95735775412773E-5	0.022
18	44681268	A	G	18	47154897	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.95735775412773E-5	0.006
18	44681268	A	T	18	47154897	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	1.95735775412773E-5	0.006
18	44681269	A	C	18	47154898	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	4.53814986019981E-5	0.004
18	44681269	A	G	18	47154898	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	4.53814986019981E-5	0.004
18	44681269	A	T	18	47154898	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	4.53814986019981E-5	0.004
18	44681270	A	C	18	47154899	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	6.37953350836995E-4	0.032
18	44681270	A	G	18	47154899	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	6.37953350836995E-4	0.034
18	44681270	A	T	18	47154899	n	y	downstream	IER3IP1	.	.	intronic	ENSG00000267228	.	.	6.37953350836995E-4	0.028
18	44682481	A	C	18	47156110	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	3.58662744131228E-5	0.0
18	44682481	A	G	18	47156110	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	3.58662744131228E-5	0.0
18	44682481	A	T	18	47156110	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	3.58662744131228E-5	0.0
18	44682482	T	A	18	47156111	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	5.10120827925612E-4	0.002
18	44682482	T	C	18	47156111	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	2.46039206459424E-4	0.002
18	44682482	T	G	18	47156111	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	2.46039206459424E-4	0.002
18	44682483	A	C	18	47156112	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	1.4076558401562E-4	0.008
18	44682483	A	G	18	47156112	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	1.4076558401562E-4	0.008
18	44682483	A	T	18	47156112	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	2.9188670368541E-4	0.008
18	44682484	A	C	18	47156113	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	0.00205892912225862	0.02
18	44682484	A	G	18	47156113	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	0.00205892912225862	0.02
18	44682484	A	T	18	47156113	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	0.00205892912225862	0.018
18	44682485	T	A	18	47156114	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	9.63734018024452E-5	0.004
18	44682485	T	C	18	47156114	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	9.63734018024452E-5	0.004
18	44682485	T	G	18	47156114	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	9.63734018024452E-5	0.004
18	44682486	G	A	18	47156115	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	1.45204556660269E-4	0.016
18	44682486	G	C	18	47156115	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	7.82685551969961E-5	0.016
18	44682486	G	T	18	47156115	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049	.	.	1.45204556660269E-4	0.016
18	44682487	A	C	18	47156116	n	y	UTR3	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon4:c.308+2T>G)	.	.	0.00117096715891391	0.018
18	44682487	A	G	18	47156116	n	y	UTR3	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon4:c.308+2T>C)	.	.	0.00117096715891391	0.018
18	44682487	A	T	18	47156116	n	y	UTR3	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon4:c.308+2T>A)	.	.	0.00117096715891391	0.018
18	44682488	C	A	18	47156117	n	y	UTR3	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon4:c.308+1G>T)	.	.	7.82685551969961E-5	0.022
18	44682488	C	G	18	47156117	n	y	UTR3	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon4:c.308+1G>C)	.	.	7.82685551969961E-5	0.02
18	44682488	C	T	18	47156117	n	y	UTR3	IER3IP1	.	.	splicing	ENSG00000267228(ENST00000588705:exon4:c.308+1G>A)	.	.	7.82685551969961E-5	0.016
18	44682489	C	A	18	47156118	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	1.10275622159801E-5	0.0
18	44682489	C	G	18	47156118	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	1.10275622159801E-5	0.0
18	44682489	C	T	18	47156118	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	1.10275622159801E-5	0.0
18	44682490	A	C	18	47156119	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	3.31929338280547E-5	0.0
18	44682490	A	G	18	47156119	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	3.31929338280547E-5	0.0
18	44682490	A	T	18	47156119	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	6.89925739660516E-5	0.004
18	44682491	A	C	18	47156120	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	0.00190846091150139	0.03
18	44682491	A	G	18	47156120	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	0.00190846091150139	0.03
18	44682491	A	T	18	47156120	n	y	UTR3	IER3IP1	.	.	UTR3	ENSG00000134049;ENSG00000267228	.	.	0.00190846091150139	0.032
18	44682602	C	A	18	47156231	y	y	exonic	IER3IP1	synonymous SNV	IER3IP1:NM_016097:exon3:c.G195T:p.V65V;	exonic	ENSG00000134049;ENSG00000267228	synonymous SNV	ENSG00000267228:ENST00000588705:exon3:c.G195T:p.V65V;ENSG00000134049:ENST00000256433:exon3:c.G195T:p.V65V;	0.00170307125412516	0.036
18	44682602	C	G	18	47156231	y	y	exonic	IER3IP1	synonymous SNV	IER3IP1:NM_016097:exon3:c.G195C:p.V65V;	exonic	ENSG00000134049;ENSG00000267228	synonymous SNV	ENSG00000267228:ENST00000588705:exon3:c.G195C:p.V65V;ENSG00000134049:ENST00000256433:exon3:c.G195C:p.V65V;	0.00318142295200621	0.086
18	44682602	C	T	18	47156231	y	y	exonic	IER3IP1	synonymous SNV	IER3IP1:NM_016097:exon3:c.G195A:p.V65V;	exonic	ENSG00000134049;ENSG00000267228	synonymous SNV	ENSG00000267228:ENST00000588705:exon3:c.G195A:p.V65V;ENSG00000134049:ENST00000256433:exon3:c.G195A:p.V65V;	0.00309974549993597	0.196
18	44682603	A	C	18	47156232	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon3:c.T194G:p.V65G;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon3:c.T194G:p.V65G;ENSG00000134049:ENST00000256433:exon3:c.T194G:p.V65G;	0.00991270606020868	0.194
18	44682603	A	G	18	47156232	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon3:c.T194C:p.V65A;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon3:c.T194C:p.V65A;ENSG00000134049:ENST00000256433:exon3:c.T194C:p.V65A;	0.0134670959787515	0.142
18	44682603	A	T	18	47156232	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon3:c.T194A:p.V65E;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon3:c.T194A:p.V65E;ENSG00000134049:ENST00000256433:exon3:c.T194A:p.V65E;	0.0151777304505357	0.296
18	44682604	C	A	18	47156233	y	y	splicing	IER3IP1(NM_016097:exon4:c.194-1G>T)	.	.	splicing	ENSG00000134049(ENST00000256433:exon4:c.194-1G>T);ENSG00000267228(ENST00000588705:exon4:c.194-1G>T)	.	.	0.999990361384395	0.938
18	44682604	C	G	18	47156233	y	y	splicing	IER3IP1(NM_016097:exon4:c.194-1G>C)	.	.	splicing	ENSG00000134049(ENST00000256433:exon4:c.194-1G>C);ENSG00000267228(ENST00000588705:exon4:c.194-1G>C)	.	.	0.999990361384395	0.938
18	44682604	C	T	18	47156233	y	y	splicing	IER3IP1(NM_016097:exon4:c.194-1G>A)	.	.	splicing	ENSG00000134049(ENST00000256433:exon4:c.194-1G>A);ENSG00000267228(ENST00000588705:exon4:c.194-1G>A)	.	.	0.999990361384395	0.938
18	44682605	T	A	18	47156234	y	y	splicing	IER3IP1(NM_016097:exon4:c.194-2A>T)	.	.	splicing	ENSG00000134049(ENST00000256433:exon4:c.194-2A>T);ENSG00000267228(ENST00000588705:exon4:c.194-2A>T)	.	.	0.999988247793601	0.93
18	44682605	T	C	18	47156234	y	y	splicing	IER3IP1(NM_016097:exon4:c.194-2A>G)	.	.	splicing	ENSG00000134049(ENST00000256433:exon4:c.194-2A>G);ENSG00000267228(ENST00000588705:exon4:c.194-2A>G)	.	.	0.999988247793601	0.93
18	44682605	T	G	18	47156234	y	y	splicing	IER3IP1(NM_016097:exon4:c.194-2A>C)	.	.	splicing	ENSG00000134049(ENST00000256433:exon4:c.194-2A>C);ENSG00000267228(ENST00000588705:exon4:c.194-2A>C)	.	.	0.999988247793601	0.93
18	44682606	G	A	18	47156235	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.0941678097244801	0.286
18	44682606	G	C	18	47156235	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999865772250062	0.896
18	44682606	G	T	18	47156235	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.507378993637111	0.526
18	44682607	T	A	18	47156236	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	9.89269662228251E-5	0.002
18	44682607	T	C	18	47156236	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	7.00772853308008E-5	0.0
18	44682607	T	G	18	47156236	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	6.87167130350667E-5	0.0
18	44682608	A	C	18	47156237	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.00154958157899397	0.198
18	44682608	A	G	18	47156237	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	7.18827712043506E-4	0.028
18	44682608	A	T	18	47156237	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	8.52772188861421E-4	0.192
18	44682609	A	C	18	47156238	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.0578131069503481	0.288
18	44682609	A	G	18	47156238	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.0042329325083645	0.062
18	44682609	A	T	18	47156238	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.0882960080848432	0.298
18	44682610	A	C	18	47156239	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.00228428717132512	0.112
18	44682610	A	G	18	47156239	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	5.7228200538153E-4	0.016
18	44682610	A	T	18	47156239	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.00693951335051175	0.19
18	44682611	G	A	18	47156240	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	3.68982219228704E-5	0.002
18	44682611	G	C	18	47156240	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	4.48335441766086E-5	0.034
18	44682611	G	T	18	47156240	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.32244751086872E-4	0.034
18	44682612	A	C	18	47156241	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.70423906306413E-4	0.016
18	44682612	A	G	18	47156241	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	5.84481778211694E-5	0.0
18	44682612	A	T	18	47156241	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.7447917154962E-4	0.016
18	44682613	G	A	18	47156242	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.20457428645415E-5	0.002
18	44682613	G	C	18	47156242	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	2.70399810869632E-5	0.006
18	44682613	G	T	18	47156242	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	4.9739956794164E-5	0.008
18	44682614	A	C	18	47156243	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	6.15729027280852E-5	0.042
18	44682614	A	G	18	47156243	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	7.02777533401788E-5	0.002
18	44682614	A	T	18	47156243	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	2.17734389089888E-4	0.1
18	44682615	A	C	18	47156244	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	3.24197238997674E-5	0.052
18	44682615	A	G	18	47156244	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	3.2941667263E-5	0.0
18	44682615	A	T	18	47156244	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	3.58764193547987E-5	0.03
18	44683799	C	A	18	47157428	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	7.01780365007816E-5	0.006
18	44683799	C	G	18	47157428	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	7.01780365007816E-5	0.004
18	44683799	C	T	18	47157428	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.88317838142339E-4	0.006
18	44683800	T	A	18	47157429	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	6.78380969718112E-4	0.006
18	44683800	T	C	18	47157429	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	5.27554107245598E-4	0.0
18	44683800	T	G	18	47157429	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	7.6236468669626E-4	0.0
18	44683801	T	A	18	47157430	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.24272860495286E-4	0.042
18	44683801	T	C	18	47157430	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.31384669569439E-4	0.008
18	44683801	T	G	18	47157430	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	5.1394097923038E-4	0.046
18	44683802	C	A	18	47157431	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.949664637410701	0.544
18	44683802	C	G	18	47157431	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.709293447668901	0.578
18	44683802	C	T	18	47157431	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.977055474743495	0.672
18	44683803	T	A	18	47157432	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.306759036512749	0.256
18	44683803	T	C	18	47157432	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.517340734244536	0.32
18	44683803	T	G	18	47157432	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.301681772759191	0.254
18	44683804	T	A	18	47157433	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.996892327064592	0.916
18	44683804	T	C	18	47157433	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.602912269955117	0.534
18	44683804	T	G	18	47157433	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999363575024134	0.946
18	44683805	A	C	18	47157434	y	y	splicing	IER3IP1(NM_016097:exon3:c.193+2T>G)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.193+2T>G);ENSG00000267228(ENST00000588705:exon3:c.193+2T>G)	.	.	0.999988247793601	0.93
18	44683805	A	G	18	47157434	y	y	splicing	IER3IP1(NM_016097:exon3:c.193+2T>C)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.193+2T>C);ENSG00000267228(ENST00000588705:exon3:c.193+2T>C)	.	.	0.99340600729494	0.702
18	44683805	A	T	18	47157434	y	y	splicing	IER3IP1(NM_016097:exon3:c.193+2T>A)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.193+2T>A);ENSG00000267228(ENST00000588705:exon3:c.193+2T>A)	.	.	0.999988247793601	0.93
18	44683806	C	A	18	47157435	y	y	splicing	IER3IP1(NM_016097:exon3:c.193+1G>T)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.193+1G>T);ENSG00000267228(ENST00000588705:exon3:c.193+1G>T)	.	.	0.999990361384395	0.938
18	44683806	C	G	18	47157435	y	y	splicing	IER3IP1(NM_016097:exon3:c.193+1G>C)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.193+1G>C);ENSG00000267228(ENST00000588705:exon3:c.193+1G>C)	.	.	0.999990361384395	0.938
18	44683806	C	T	18	47157435	y	y	splicing	IER3IP1(NM_016097:exon3:c.193+1G>A)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.193+1G>A);ENSG00000267228(ENST00000588705:exon3:c.193+1G>A)	.	.	0.999990361384395	0.938
18	44683807	C	A	18	47157436	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.G193T:p.V65L;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.G193T:p.V65L;ENSG00000134049:ENST00000256433:exon2:c.G193T:p.V65L;	0.999918646032179	0.972
18	44683807	C	G	18	47157436	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.G193C:p.V65L;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.G193C:p.V65L;ENSG00000134049:ENST00000256433:exon2:c.G193C:p.V65L;	0.999984334528686	0.944
18	44683807	C	T	18	47157436	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.G193A:p.V65M;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.G193A:p.V65M;ENSG00000134049:ENST00000256433:exon2:c.G193A:p.V65M;	0.999933651943517	0.984
18	44683808	T	A	18	47157437	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.A192T:p.R64S;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.A192T:p.R64S;ENSG00000134049:ENST00000256433:exon2:c.A192T:p.R64S;	0.991790722411506	0.82
18	44683808	T	C	18	47157437	y	y	exonic	IER3IP1	synonymous SNV	IER3IP1:NM_016097:exon2:c.A192G:p.R64R;	exonic	ENSG00000134049;ENSG00000267228	synonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.A192G:p.R64R;ENSG00000134049:ENST00000256433:exon2:c.A192G:p.R64R;	0.98922719011144	0.912
18	44683808	T	G	18	47157437	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.A192C:p.R64S;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.A192C:p.R64S;ENSG00000134049:ENST00000256433:exon2:c.A192C:p.R64S;	0.988249394171397	0.87
18	44683809	C	A	18	47157438	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.G191T:p.R64I;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.G191T:p.R64I;ENSG00000134049:ENST00000256433:exon2:c.G191T:p.R64I;	0.990390966944262	0.864
18	44683809	C	G	18	47157438	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.G191C:p.R64T;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.G191C:p.R64T;ENSG00000134049:ENST00000256433:exon2:c.G191C:p.R64T;	0.97145887165085	0.776
18	44683809	C	T	18	47157438	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.G191A:p.R64K;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.G191A:p.R64K;ENSG00000134049:ENST00000256433:exon2:c.G191A:p.R64K;	0.97145887165085	0.826
18	44683907	A	C	18	47157536	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.T93G:p.I31M;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.T93G:p.I31M;ENSG00000134049:ENST00000256433:exon2:c.T93G:p.I31M;	0.85488945635217	0.476
18	44683907	A	G	18	47157536	y	y	exonic	IER3IP1	synonymous SNV	IER3IP1:NM_016097:exon2:c.T93C:p.I31I;	exonic	ENSG00000134049;ENSG00000267228	synonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.T93C:p.I31I;ENSG00000134049:ENST00000256433:exon2:c.T93C:p.I31I;	0.725650992437812	0.43
18	44683907	A	T	18	47157536	y	y	exonic	IER3IP1	synonymous SNV	IER3IP1:NM_016097:exon2:c.T93A:p.I31I;	exonic	ENSG00000134049;ENSG00000267228	synonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.T93A:p.I31I;ENSG00000134049:ENST00000256433:exon2:c.T93A:p.I31I;	0.906467172258946	0.558
18	44683908	A	C	18	47157537	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.T92G:p.I31S;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.T92G:p.I31S;ENSG00000134049:ENST00000256433:exon2:c.T92G:p.I31S;	0.816907124406164	0.528
18	44683908	A	G	18	47157537	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.T92C:p.I31T;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.T92C:p.I31T;ENSG00000134049:ENST00000256433:exon2:c.T92C:p.I31T;	0.849309633568622	0.754
18	44683908	A	T	18	47157537	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon2:c.T92A:p.I31N;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon2:c.T92A:p.I31N;ENSG00000134049:ENST00000256433:exon2:c.T92A:p.I31N;	0.743079865496101	0.69
18	44683909	C	A	18	47157538	y	y	splicing	IER3IP1(NM_016097:exon3:c.92-1G>T)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.92-1G>T);ENSG00000267228(ENST00000588705:exon3:c.92-1G>T)	.	.	0.999989125585301	0.944
18	44683909	C	G	18	47157538	y	y	splicing	IER3IP1(NM_016097:exon3:c.92-1G>C)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.92-1G>C);ENSG00000267228(ENST00000588705:exon3:c.92-1G>C)	.	.	0.999989125585301	0.944
18	44683909	C	T	18	47157538	y	y	splicing	IER3IP1(NM_016097:exon3:c.92-1G>A)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.92-1G>A);ENSG00000267228(ENST00000588705:exon3:c.92-1G>A)	.	.	0.999989125585301	0.944
18	44683910	T	A	18	47157539	y	y	splicing	IER3IP1(NM_016097:exon3:c.92-2A>T)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.92-2A>T);ENSG00000267228(ENST00000588705:exon3:c.92-2A>T)	.	.	0.999986741007567	0.946
18	44683910	T	C	18	47157539	y	y	splicing	IER3IP1(NM_016097:exon3:c.92-2A>G)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.92-2A>G);ENSG00000267228(ENST00000588705:exon3:c.92-2A>G)	.	.	0.999986741007567	0.946
18	44683910	T	G	18	47157539	y	y	splicing	IER3IP1(NM_016097:exon3:c.92-2A>C)	.	.	splicing	ENSG00000134049(ENST00000256433:exon3:c.92-2A>C);ENSG00000267228(ENST00000588705:exon3:c.92-2A>C)	.	.	0.999986741007567	0.946
18	44683911	G	A	18	47157540	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.194188809681101	0.236
18	44683911	G	C	18	47157540	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.99995411742711	0.95
18	44683911	G	T	18	47157540	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999892701722836	0.928
18	44683912	T	A	18	47157541	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.66617683983386E-4	0.04
18	44683912	T	C	18	47157541	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	8.01667691738654E-4	0.07
18	44683912	T	G	18	47157541	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	8.40631224108728E-5	0.032
18	44683913	A	C	18	47157542	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999032892433802	0.972
18	44683913	A	G	18	47157542	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	9.28727647068312E-4	0.04
18	44683913	A	T	18	47157542	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.0774321504823637	0.508
18	44683914	T	A	18	47157543	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.19109605249531E-4	0.042
18	44683914	T	C	18	47157543	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.29000698370475E-4	0.004
18	44683914	T	G	18	47157543	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.25964608463336E-4	0.026
18	44683915	A	C	18	47157544	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.0456667820393214	0.418
18	44683915	A	G	18	47157544	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	4.61413715702172E-5	0.008
18	44683915	A	T	18	47157544	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.0462579061735632	0.382
18	44683916	A	C	18	47157545	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999887888703407	0.99
18	44683916	A	G	18	47157545	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.29335397217774E-4	0.008
18	44683916	A	T	18	47157545	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.548417866212693	0.592
18	44683917	T	A	18	47157546	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.33684777350849E-5	0.024
18	44683917	T	C	18	47157546	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	2.09864534856465E-5	0.02
18	44683917	T	G	18	47157546	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.94676664783226E-5	0.014
18	44683918	G	A	18	47157547	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.73162475468006E-5	0.01
18	44683918	G	C	18	47157547	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999674796044199	0.974
18	44683918	G	T	18	47157547	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	2.74224029489854E-4	0.102
18	44683919	T	A	18	47157548	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	6.40139422157054E-5	0.026
18	44683919	T	C	18	47157548	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.42488379999084E-5	0.0
18	44683919	T	G	18	47157548	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	2.63756184029401E-5	0.002
18	44683920	A	C	18	47157549	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.0376569345562092	0.432
18	44683920	A	G	18	47157549	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	7.5709931240786E-4	0.148
18	44683920	A	T	18	47157549	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.405229227623612	0.526
18	44702550	C	A	18	47176179	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	2.49013122545973E-4	0.012
18	44702550	C	G	18	47176179	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.62396676174111E-4	0.002
18	44702550	C	T	18	47176179	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	3.63285860874906E-4	0.02
18	44702551	C	A	18	47176180	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	5.60183149611129E-5	0.004
18	44702551	C	G	18	47176180	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	1.6534170685774E-4	0.0
18	44702551	C	T	18	47176180	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	3.7718548018158E-5	0.004
18	44702552	A	C	18	47176181	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.996384162631553	0.876
18	44702552	A	G	18	47176181	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.997213760800979	0.966
18	44702552	A	T	18	47176181	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.99609665871619	0.774
18	44702553	C	A	18	47176182	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.99998517287915	0.988
18	44702553	C	G	18	47176182	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999989362936631	0.98
18	44702553	C	T	18	47176182	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999989362936631	0.994
18	44702554	T	A	18	47176183	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999894915509144	0.92
18	44702554	T	C	18	47176183	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999675505149331	0.934
18	44702554	T	G	18	47176183	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999369550355158	0.928
18	44702555	C	A	18	47176184	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999702025605113	0.872
18	44702555	C	G	18	47176184	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.999909777215229	0.898
18	44702555	C	T	18	47176184	y	y	intronic	IER3IP1	.	.	intronic	ENSG00000134049;ENSG00000267228	.	.	0.268573329654611	0.36
18	44702556	A	C	18	47176185	y	y	splicing	IER3IP1(NM_016097:exon2:c.91+2T>G)	.	.	splicing	ENSG00000134049(ENST00000256433:exon2:c.91+2T>G);ENSG00000267228(ENST00000588705:exon2:c.91+2T>G;ENST00000602926:exon2:c.91+2T>G;ENST00000602459:exon2:c.91+2T>G)	.	.	0.999992446697775	0.928
18	44702556	A	G	18	47176185	y	y	splicing	IER3IP1(NM_016097:exon2:c.91+2T>C)	.	.	splicing	ENSG00000134049(ENST00000256433:exon2:c.91+2T>C);ENSG00000267228(ENST00000588705:exon2:c.91+2T>C;ENST00000602926:exon2:c.91+2T>C;ENST00000602459:exon2:c.91+2T>C)	.	.	0.999963811729939	0.86
18	44702556	A	T	18	47176185	y	y	splicing	IER3IP1(NM_016097:exon2:c.91+2T>A)	.	.	splicing	ENSG00000134049(ENST00000256433:exon2:c.91+2T>A);ENSG00000267228(ENST00000588705:exon2:c.91+2T>A;ENST00000602926:exon2:c.91+2T>A;ENST00000602459:exon2:c.91+2T>A)	.	.	0.999992446697775	0.928
18	44702557	C	A	18	47176186	y	y	splicing	IER3IP1(NM_016097:exon2:c.91+1G>T)	.	.	splicing	ENSG00000134049(ENST00000256433:exon2:c.91+1G>T);ENSG00000267228(ENST00000588705:exon2:c.91+1G>T;ENST00000602926:exon2:c.91+1G>T;ENST00000602459:exon2:c.91+1G>T)	.	.	0.999991959366812	0.928
18	44702557	C	G	18	47176186	y	y	splicing	IER3IP1(NM_016097:exon2:c.91+1G>C)	.	.	splicing	ENSG00000134049(ENST00000256433:exon2:c.91+1G>C);ENSG00000267228(ENST00000588705:exon2:c.91+1G>C;ENST00000602926:exon2:c.91+1G>C;ENST00000602459:exon2:c.91+1G>C)	.	.	0.999991959366812	0.926
18	44702557	C	T	18	47176186	y	y	splicing	IER3IP1(NM_016097:exon2:c.91+1G>A)	.	.	splicing	ENSG00000134049(ENST00000256433:exon2:c.91+1G>A);ENSG00000267228(ENST00000588705:exon2:c.91+1G>A;ENST00000602926:exon2:c.91+1G>A;ENST00000602459:exon2:c.91+1G>A)	.	.	0.999991959366812	0.928
18	44702558	T	A	18	47176187	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon1:c.A91T:p.I31F;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.A91T:p.I31F;ENSG00000267228:ENST00000602926:exon1:c.A91T:p.R31W;ENSG00000134049:ENST00000256433:exon1:c.A91T:p.I31F;ENSG00000267228:ENST00000602459:exon1:c.A91T:p.R31W;	0.594545795832538	0.428
18	44702558	T	C	18	47176187	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon1:c.A91G:p.I31V;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.A91G:p.I31V;ENSG00000267228:ENST00000602926:exon1:c.A91G:p.R31G;ENSG00000134049:ENST00000256433:exon1:c.A91G:p.I31V;ENSG00000267228:ENST00000602459:exon1:c.A91G:p.R31G;	0.0476483306219038	0.198
18	44702558	T	G	18	47176187	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon1:c.A91C:p.I31L;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.A91C:p.I31L;ENSG00000134049:ENST00000256433:exon1:c.A91C:p.I31L;	0.220959910321681	0.512
18	44702559	G	A	18	47176188	y	y	exonic	IER3IP1	synonymous SNV	IER3IP1:NM_016097:exon1:c.C90T:p.N30N;	exonic	ENSG00000134049;ENSG00000267228	synonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.C90T:p.N30N;ENSG00000267228:ENST00000602926:exon1:c.C90T:p.N30N;ENSG00000134049:ENST00000256433:exon1:c.C90T:p.N30N;ENSG00000267228:ENST00000602459:exon1:c.C90T:p.N30N;	0.932750004237494	0.65
18	44702559	G	C	18	47176188	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon1:c.C90G:p.N30K;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.C90G:p.N30K;ENSG00000267228:ENST00000602926:exon1:c.C90G:p.N30K;ENSG00000134049:ENST00000256433:exon1:c.C90G:p.N30K;ENSG00000267228:ENST00000602459:exon1:c.C90G:p.N30K;	0.0437406891430603	0.178
18	44702559	G	T	18	47176188	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon1:c.C90A:p.N30K;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.C90A:p.N30K;ENSG00000267228:ENST00000602926:exon1:c.C90A:p.N30K;ENSG00000134049:ENST00000256433:exon1:c.C90A:p.N30K;ENSG00000267228:ENST00000602459:exon1:c.C90A:p.N30K;	0.00437517150402268	0.082
18	44702560	T	A	18	47176189	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon1:c.A89T:p.N30I;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.A89T:p.N30I;ENSG00000267228:ENST00000602926:exon1:c.A89T:p.N30I;ENSG00000134049:ENST00000256433:exon1:c.A89T:p.N30I;ENSG00000267228:ENST00000602459:exon1:c.A89T:p.N30I;	0.960669798598727	0.502
18	44702560	T	C	18	47176189	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon1:c.A89G:p.N30S;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.A89G:p.N30S;ENSG00000267228:ENST00000602926:exon1:c.A89G:p.N30S;ENSG00000134049:ENST00000256433:exon1:c.A89G:p.N30S;ENSG00000267228:ENST00000602459:exon1:c.A89G:p.N30S;	0.184883897273546	0.412
18	44702560	T	G	18	47176189	y	y	exonic	IER3IP1	nonsynonymous SNV	IER3IP1:NM_016097:exon1:c.A89C:p.N30T;	exonic	ENSG00000134049;ENSG00000267228	nonsynonymous SNV	ENSG00000267228:ENST00000588705:exon1:c.A89C:p.N30T;ENSG00000267228:ENST00000602926:exon1:c.A89C:p.N30T;ENSG00000134049:ENST00000256433:exon1:c.A89C:p.N30T;ENSG00000267228:ENST00000602459:exon1:c.A89C:p.N30T;	0.624557355564194	0.492
18	44738521	A	C	18	47212150	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon7:c.T2987G:p.I996S;	intergenic	ENSG00000134049(dist=35776);ENSG00000215474(dist=7772)	.	.	0.0232997890873319	0.236
18	44738521	A	G	18	47212150	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon7:c.T2987C:p.I996T;	intergenic	ENSG00000134049(dist=35776);ENSG00000215474(dist=7772)	.	.	0.0174359571105581	0.188
18	44738521	A	T	18	47212150	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon7:c.T2987A:p.I996N;	intergenic	ENSG00000134049(dist=35776);ENSG00000215474(dist=7772)	.	.	0.138546291139046	0.278
18	44738522	T	A	18	47212151	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon7:c.A2986T:p.I996F;	intergenic	ENSG00000134049(dist=35777);ENSG00000215474(dist=7771)	.	.	0.0778726824900307	0.386
18	44738522	T	C	18	47212151	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon7:c.A2986G:p.I996V;	intergenic	ENSG00000134049(dist=35777);ENSG00000215474(dist=7771)	.	.	0.00340040925285691	0.078
18	44738522	T	G	18	47212151	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon7:c.A2986C:p.I996L;	intergenic	ENSG00000134049(dist=35777);ENSG00000215474(dist=7771)	.	.	0.0307794355032453	0.276
18	44738523	C	A	18	47212152	y	n	splicing	SKOR2(NM_001278063:exon8:c.2986-1G>T)	.	.	intergenic	ENSG00000134049(dist=35778);ENSG00000215474(dist=7770)	.	.	0.999971209564868	0.938
18	44738523	C	G	18	47212152	y	n	splicing	SKOR2(NM_001278063:exon8:c.2986-1G>C)	.	.	intergenic	ENSG00000134049(dist=35778);ENSG00000215474(dist=7770)	.	.	0.999970205305079	0.936
18	44738523	C	T	18	47212152	y	n	splicing	SKOR2(NM_001278063:exon8:c.2986-1G>A)	.	.	intergenic	ENSG00000134049(dist=35778);ENSG00000215474(dist=7770)	.	.	0.999971209564868	0.938
18	44738524	T	A	18	47212153	y	n	splicing	SKOR2(NM_001278063:exon8:c.2986-2A>T)	.	.	intergenic	ENSG00000134049(dist=35779);ENSG00000215474(dist=7769)	.	.	0.999964896440643	0.936
18	44738524	T	C	18	47212153	y	n	splicing	SKOR2(NM_001278063:exon8:c.2986-2A>G)	.	.	intergenic	ENSG00000134049(dist=35779);ENSG00000215474(dist=7769)	.	.	0.999963671976247	0.934
18	44738524	T	G	18	47212153	y	n	splicing	SKOR2(NM_001278063:exon8:c.2986-2A>C)	.	.	intergenic	ENSG00000134049(dist=35779);ENSG00000215474(dist=7769)	.	.	0.999963671976247	0.934
18	44738525	G	A	18	47212154	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35780);ENSG00000215474(dist=7768)	.	.	0.00144273064589647	0.082
18	44738525	G	C	18	47212154	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35780);ENSG00000215474(dist=7768)	.	.	0.997880267730672	0.714
18	44738525	G	T	18	47212154	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35780);ENSG00000215474(dist=7768)	.	.	0.312412769557717	0.492
18	44738526	T	A	18	47212155	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35781);ENSG00000215474(dist=7767)	.	.	7.37639625866445E-5	0.0
18	44738526	T	C	18	47212155	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35781);ENSG00000215474(dist=7767)	.	.	7.83063522924023E-5	0.0
18	44738526	T	G	18	47212155	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35781);ENSG00000215474(dist=7767)	.	.	4.13155683068597E-5	0.0
18	44738527	A	C	18	47212156	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35782);ENSG00000215474(dist=7766)	.	.	0.0128165156631653	0.358
18	44738527	A	G	18	47212156	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35782);ENSG00000215474(dist=7766)	.	.	0.00306162405164631	0.11
18	44738527	A	T	18	47212156	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35782);ENSG00000215474(dist=7766)	.	.	0.032129446645726	0.358
18	44738528	A	C	18	47212157	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35783);ENSG00000215474(dist=7765)	.	.	0.0158242235171139	0.314
18	44738528	A	G	18	47212157	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35783);ENSG00000215474(dist=7765)	.	.	0.00236011501425532	0.064
18	44738528	A	T	18	47212157	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35783);ENSG00000215474(dist=7765)	.	.	0.048833059247293	0.304
18	44738529	G	A	18	47212158	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35784);ENSG00000215474(dist=7764)	.	.	0.00134209531190295	0.078
18	44738529	G	C	18	47212158	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35784);ENSG00000215474(dist=7764)	.	.	0.00758664510138925	0.192
18	44738529	G	T	18	47212158	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35784);ENSG00000215474(dist=7764)	.	.	0.028257702904268	0.238
18	44738530	A	C	18	47212159	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35785);ENSG00000215474(dist=7763)	.	.	4.63304899939353E-4	0.086
18	44738530	A	G	18	47212159	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35785);ENSG00000215474(dist=7763)	.	.	2.61234143966655E-5	0.0
18	44738530	A	T	18	47212159	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35785);ENSG00000215474(dist=7763)	.	.	4.35809132120206E-4	0.062
18	44738531	C	A	18	47212160	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35786);ENSG00000215474(dist=7762)	.	.	7.08292564569715E-6	0.014
18	44738531	C	G	18	47212160	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35786);ENSG00000215474(dist=7762)	.	.	1.09402054515615E-5	0.002
18	44738531	C	T	18	47212160	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35786);ENSG00000215474(dist=7762)	.	.	4.82799202524842E-5	0.0
18	44738532	A	C	18	47212161	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35787);ENSG00000215474(dist=7761)	.	.	0.00573913815224164	0.226
18	44738532	A	G	18	47212161	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35787);ENSG00000215474(dist=7761)	.	.	0.00145965268336336	0.11
18	44738532	A	T	18	47212161	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35787);ENSG00000215474(dist=7761)	.	.	0.999612128464379	0.924
18	44738533	A	C	18	47212162	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35788);ENSG00000215474(dist=7760)	.	.	0.00225638094597198	0.146
18	44738533	A	G	18	47212162	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35788);ENSG00000215474(dist=7760)	.	.	8.38454398155765E-4	0.022
18	44738533	A	T	18	47212162	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35788);ENSG00000215474(dist=7760)	.	.	0.00413350610470263	0.266
18	44738534	A	C	18	47212163	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35789);ENSG00000215474(dist=7759)	.	.	0.00481722397750734	0.154
18	44738534	A	G	18	47212163	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35789);ENSG00000215474(dist=7759)	.	.	0.00231669444570131	0.08
18	44738534	A	T	18	47212163	y	n	intronic	SKOR2	.	.	intergenic	ENSG00000134049(dist=35789);ENSG00000215474(dist=7759)	.	.	0.00674259702397147	0.18
18	44746306	C	A	18	47219935	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2993T:p.C998F;	1.22244207639756E-4	0.002
18	44746306	C	G	18	47219935	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2993C:p.C998S;	4.66564374377746E-4	0.01
18	44746306	C	T	18	47219935	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2993A:p.C998Y;	2.11338647060094E-4	0.006
18	44746307	A	C	18	47219936	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2992G:p.C998G;	3.87747441935374E-4	0.006
18	44746307	A	G	18	47219936	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2992C:p.C998R;	3.87747441935374E-4	0.02
18	44746307	A	T	18	47219936	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2992A:p.C998S;	4.52734514252422E-4	0.006
18	44746308	G	A	18	47219937	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.C2991T:p.S997S;	2.56495953609698E-5	0.012
18	44746308	G	C	18	47219937	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.C2991G:p.S997R;	5.47916921867252E-5	0.044
18	44746308	G	T	18	47219937	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.C2991A:p.S997R;	6.77863493774027E-4	0.034
18	44746309	C	A	18	47219938	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2990T:p.S997I;	0.999962087023004	0.984
18	44746309	C	G	18	47219938	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2990C:p.S997T;	0.999994681111361	0.978
18	44746309	C	T	18	47219938	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2990A:p.S997N;	0.999962087023004	0.996
18	44746310	T	A	18	47219939	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2989T:p.S997C;	0.999687826099291	0.902
18	44746310	T	C	18	47219939	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2989G:p.S997G;	0.999778195535197	0.97
18	44746310	T	G	18	47219939	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2989C:p.S997R;	0.99955878568649	0.894
18	44746311	T	A	18	47219940	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2988T:p.V996V;	0.999568008515584	0.808
18	44746311	T	C	18	47219940	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2988G:p.V996V;	0.158966014276016	0.434
18	44746311	T	G	18	47219940	y	n	intronic	SKOR2	.	.	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2988C:p.V996V;	0.997007111361382	0.766
18	44746312	A	C	18	47219941	y	n	splicing	SKOR2(NM_001278063:exon7:c.2985+2T>G)	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2987G:p.V996G;	0.999946188727699	0.938
18	44746312	A	G	18	47219941	y	n	splicing	SKOR2(NM_001278063:exon7:c.2985+2T>C)	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2987C:p.V996A;	0.999624121748994	0.894
18	44746312	A	T	18	47219941	y	n	splicing	SKOR2(NM_001278063:exon7:c.2985+2T>A)	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2987A:p.V996E;	0.99994568797423	0.946
18	44746313	C	A	18	47219942	y	n	splicing	SKOR2(NM_001278063:exon7:c.2985+1G>T)	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2986T:p.V996L;	0.999990361384395	0.936
18	44746313	C	G	18	47219942	y	n	splicing	SKOR2(NM_001278063:exon7:c.2985+1G>C)	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2986C:p.V996L;	0.999982737877662	0.934
18	44746313	C	T	18	47219942	y	n	splicing	SKOR2(NM_001278063:exon7:c.2985+1G>A)	.	.	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.G2986A:p.V996I;	0.999974785031454	0.862
18	44746314	A	C	18	47219943	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.T2985G:p.I995M;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2985G:p.I995M;	3.83279971692271E-5	0.028
18	44746314	A	G	18	47219943	y	n	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon6:c.T2985C:p.I995I;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2985C:p.I995I;	2.36698470263295E-5	0.058
18	44746314	A	T	18	47219943	y	n	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon6:c.T2985A:p.I995I;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2985A:p.I995I;	1.78284399019793E-5	0.034
18	44746315	A	C	18	47219944	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.T2984G:p.I995S;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2984G:p.I995S;	0.563236098760504	0.6
18	44746315	A	G	18	47219944	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.T2984C:p.I995T;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2984C:p.I995T;	0.13339092018004	0.314
18	44746315	A	T	18	47219944	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.T2984A:p.I995N;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2984A:p.I995N;	0.0343776871782749	0.218
18	44746316	T	A	18	47219945	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.A2983T:p.I995F;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2983T:p.I995F;	0.998675628788324	0.81
18	44746316	T	C	18	47219945	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.A2983G:p.I995V;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2983G:p.I995V;	0.664232782227849	0.482
18	44746316	T	G	18	47219945	y	n	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.A2983C:p.I995L;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2983C:p.I995L;	0.887145100779443	0.534
18	44746380	A	C	18	47220009	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.T2919G:p.N973K;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2919G:p.N973K;	0.0134169258095702	0.132
18	44746380	A	G	18	47220009	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon6:c.T2919C:p.N973N;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2919C:p.N973N;	0.00183752458948565	0.126
18	44746380	A	T	18	47220009	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.T2919A:p.N973K;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.T2919A:p.N973K;	0.0126884956747759	0.144
18	44746381	T	A	18	47220010	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.A2918T:p.N973I;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2918T:p.N973I;	0.788098288757366	0.516
18	44746381	T	C	18	47220010	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.A2918G:p.N973S;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2918G:p.N973S;	0.735140607834191	0.562
18	44746381	T	G	18	47220010	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon6:c.A2918C:p.N973T;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon6:c.A2918C:p.N973T;	0.81416833856058	0.62
18	44746382	C	A	18	47220011	y	y	splicing	SKOR2(NM_001278063:exon7:c.2918-1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon7:c.2918-1G>T)	.	.	0.999990361384395	0.938
18	44746382	C	G	18	47220011	y	y	splicing	SKOR2(NM_001278063:exon7:c.2918-1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon7:c.2918-1G>C)	.	.	0.999990361384395	0.938
18	44746382	C	T	18	47220011	y	y	splicing	SKOR2(NM_001278063:exon7:c.2918-1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon7:c.2918-1G>A)	.	.	0.999990361384395	0.938
18	44746383	T	A	18	47220012	y	y	splicing	SKOR2(NM_001278063:exon7:c.2918-2A>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon7:c.2918-2A>T)	.	.	0.999988247793601	0.932
18	44746383	T	C	18	47220012	y	y	splicing	SKOR2(NM_001278063:exon7:c.2918-2A>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon7:c.2918-2A>G)	.	.	0.999988247793601	0.932
18	44746383	T	G	18	47220012	y	y	splicing	SKOR2(NM_001278063:exon7:c.2918-2A>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon7:c.2918-2A>C)	.	.	0.999988247793601	0.932
18	44746384	G	A	18	47220013	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00719433165154101	0.048
18	44746384	G	C	18	47220013	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.99977449408372	0.968
18	44746384	G	T	18	47220013	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.969352721152039	0.766
18	44746385	G	A	18	47220014	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	7.12515734197291E-5	0.006
18	44746385	G	C	18	47220014	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.470838995817364	0.576
18	44746385	G	T	18	47220014	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.90421866229168E-5	0.002
18	44746386	T	A	18	47220015	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.95076949036759E-5	0.0
18	44746386	T	C	18	47220015	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.84532674002022E-4	0.01
18	44746386	T	G	18	47220015	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.81660547812842E-5	0.0
18	44746387	A	C	18	47220016	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00305015596872777	0.126
18	44746387	A	G	18	47220016	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.26308683667794E-4	0.01
18	44746387	A	T	18	47220016	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00385006850192569	0.044
18	44746388	G	A	18	47220017	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.05043298826388E-4	0.01
18	44746388	G	C	18	47220017	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00168116283344017	0.058
18	44746388	G	T	18	47220017	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00226602880325548	0.154
18	44746389	G	A	18	47220018	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	8.62055766134358E-4	0.052
18	44746389	G	C	18	47220018	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00985033763247374	0.142
18	44746389	G	T	18	47220018	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0387729820712192	0.126
18	44746390	A	C	18	47220019	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0528407623735082	0.116
18	44746390	A	G	18	47220019	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00460916133010873	0.018
18	44746390	A	T	18	47220019	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.107610690252485	0.166
18	44746391	G	A	18	47220020	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.223312550650527	0.384
18	44746391	G	C	18	47220020	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.445159339021826	0.24
18	44746391	G	T	18	47220020	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.35991619257494	0.29
18	44746392	A	C	18	47220021	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0242253439441554	0.238
18	44746392	A	G	18	47220021	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0163347479205524	0.242
18	44746392	A	T	18	47220021	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0952370297927562	0.39
18	44746393	G	A	18	47220022	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.34696506717931E-4	0.062
18	44746393	G	C	18	47220022	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00392978384096835	0.206
18	44746393	G	T	18	47220022	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0393857406086774	0.192
18	44756822	T	A	18	47230451	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.26339017530408E-5	0.004
18	44756822	T	C	18	47230451	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.6848300967651E-5	0.006
18	44756822	T	G	18	47230451	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.6848300967651E-5	0.002
18	44756823	T	A	18	47230452	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00128318235053054	0.174
18	44756823	T	C	18	47230452	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00152188201378248	0.008
18	44756823	T	G	18	47230452	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00156238760316416	0.008
18	44756824	T	A	18	47230453	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.93954424356451E-4	0.084
18	44756824	T	C	18	47230453	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.70499458627411E-4	0.008
18	44756824	T	G	18	47230453	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	7.77807060148824E-4	0.116
18	44756825	C	A	18	47230454	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999983411312949	0.988
18	44756825	C	G	18	47230454	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999983411312949	1.0
18	44756825	C	T	18	47230454	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.99997221392115	0.99
18	44756826	T	A	18	47230455	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999977783226511	0.918
18	44756826	T	C	18	47230455	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999945252980078	0.922
18	44756826	T	G	18	47230455	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999949954841256	0.906
18	44756827	T	A	18	47230456	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999930252395117	0.958
18	44756827	T	C	18	47230456	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.905034932254742	0.68
18	44756827	T	G	18	47230456	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999930252395117	0.948
18	44756828	A	C	18	47230457	y	y	splicing	SKOR2(NM_001278063:exon6:c.2917+2T>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2917+2T>G)	.	.	0.999993143195943	0.934
18	44756828	A	G	18	47230457	y	y	splicing	SKOR2(NM_001278063:exon6:c.2917+2T>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2917+2T>C)	.	.	0.999877912163302	0.884
18	44756828	A	T	18	47230457	y	y	splicing	SKOR2(NM_001278063:exon6:c.2917+2T>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2917+2T>A)	.	.	0.999993143195943	0.934
18	44756829	C	A	18	47230458	y	y	splicing	SKOR2(NM_001278063:exon6:c.2917+1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2917+1G>T)	.	.	0.999990938371702	0.94
18	44756829	C	G	18	47230458	y	y	splicing	SKOR2(NM_001278063:exon6:c.2917+1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2917+1G>C)	.	.	0.999990938371702	0.94
18	44756829	C	T	18	47230458	y	y	splicing	SKOR2(NM_001278063:exon6:c.2917+1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2917+1G>A)	.	.	0.999990938371702	0.938
18	44756830	T	A	18	47230459	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.A2917T:p.N973Y;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2917T:p.N973Y;	0.0209736487757696	0.262
18	44756830	T	C	18	47230459	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.A2917G:p.N973D;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2917G:p.N973D;	5.93448696600878E-4	0.164
18	44756830	T	G	18	47230459	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.A2917C:p.N973H;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2917C:p.N973H;	0.00743212796416736	0.266
18	44756831	G	A	18	47230460	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon5:c.C2916T:p.F972F;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.C2916T:p.F972F;	0.0640818027206425	0.226
18	44756831	G	C	18	47230460	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.C2916G:p.F972L;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.C2916G:p.F972L;	0.983442316052092	0.726
18	44756831	G	T	18	47230460	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.C2916A:p.F972L;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.C2916A:p.F972L;	0.961652873663385	0.592
18	44756832	A	C	18	47230461	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.T2915G:p.F972C;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.T2915G:p.F972C;	0.0625554341768096	0.374
18	44756832	A	G	18	47230461	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.T2915C:p.F972S;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.T2915C:p.F972S;	0.134071775641301	0.356
18	44756832	A	T	18	47230461	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.T2915A:p.F972Y;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.T2915A:p.F972Y;	0.392823436416132	0.558
18	44756927	T	A	18	47230556	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.A2820T:p.E940D;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2820T:p.E940D;	5.18781363636853E-5	0.01
18	44756927	T	C	18	47230556	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon5:c.A2820G:p.E940E;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2820G:p.E940E;	7.08265690956714E-5	0.012
18	44756927	T	G	18	47230556	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.A2820C:p.E940D;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2820C:p.E940D;	1.28464253107347E-4	0.012
18	44756928	T	A	18	47230557	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.A2819T:p.E940V;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2819T:p.E940V;	0.183479298734552	0.462
18	44756928	T	C	18	47230557	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.A2819G:p.E940G;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2819G:p.E940G;	0.386231824834162	0.366
18	44756928	T	G	18	47230557	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon5:c.A2819C:p.E940A;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon5:c.A2819C:p.E940A;	0.169862933998761	0.51
18	44756929	C	A	18	47230558	y	y	splicing	SKOR2(NM_001278063:exon6:c.2819-1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2819-1G>T)	.	.	0.999986675681007	0.946
18	44756929	C	G	18	47230558	y	y	splicing	SKOR2(NM_001278063:exon6:c.2819-1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2819-1G>C)	.	.	0.999986675681007	0.946
18	44756929	C	T	18	47230558	y	y	splicing	SKOR2(NM_001278063:exon6:c.2819-1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2819-1G>A)	.	.	0.999986675681007	0.946
18	44756930	T	A	18	47230559	y	y	splicing	SKOR2(NM_001278063:exon6:c.2819-2A>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2819-2A>T)	.	.	0.999988247793601	0.94
18	44756930	T	C	18	47230559	y	y	splicing	SKOR2(NM_001278063:exon6:c.2819-2A>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2819-2A>G)	.	.	0.999988247793601	0.94
18	44756930	T	G	18	47230559	y	y	splicing	SKOR2(NM_001278063:exon6:c.2819-2A>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon6:c.2819-2A>C)	.	.	0.999988247793601	0.94
18	44756931	A	C	18	47230560	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999000940165749	0.744
18	44756931	A	G	18	47230560	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00176506726919037	0.106
18	44756931	A	T	18	47230560	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.583741326203971	0.432
18	44756932	A	C	18	47230561	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.96744963097221	0.678
18	44756932	A	G	18	47230561	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00507643150488445	0.03
18	44756932	A	T	18	47230561	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00787250866566183	0.042
18	44756933	T	A	18	47230562	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00148464513456398	0.072
18	44756933	T	C	18	47230562	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00783482940371895	0.118
18	44756933	T	G	18	47230562	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00137353772338048	0.032
18	44756934	A	C	18	47230563	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00586049605480109	0.172
18	44756934	A	G	18	47230563	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.93791836833392E-4	0.01
18	44756934	A	T	18	47230563	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0135162434979118	0.166
18	44756935	A	C	18	47230564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	8.60025915275134E-4	0.026
18	44756935	A	G	18	47230564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.65727468563881E-5	0.0
18	44756935	A	T	18	47230564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.36284308778455E-4	0.016
18	44756936	A	C	18	47230565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	8.39427553926432E-4	0.086
18	44756936	A	G	18	47230565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.28332876256898E-5	0.006
18	44756936	A	T	18	47230565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.06505493058801E-4	0.102
18	44756937	A	C	18	47230566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.40849758196689E-4	0.112
18	44756937	A	G	18	47230566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	7.01414625946113E-5	0.08
18	44756937	A	T	18	47230566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.8936944720381E-4	0.128
18	44756938	A	C	18	47230567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0399047414599658	0.22
18	44756938	A	G	18	47230567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00135561398932709	0.118
18	44756938	A	T	18	47230567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.311998930741647	0.358
18	44756939	A	C	18	47230568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.92260914862638	0.652
18	44756939	A	G	18	47230568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.723595656237015	0.412
18	44756939	A	T	18	47230568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.929575248139653	0.738
18	44756940	A	C	18	47230569	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00151233159692942	0.21
18	44756940	A	G	18	47230569	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.64860883630274E-5	0.096
18	44756940	A	T	18	47230569	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00345280366785298	0.226
18	44757298	T	A	18	47230927	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.28980854975686E-5	0.0
18	44757298	T	C	18	47230927	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.28980854975686E-5	0.0
18	44757298	T	G	18	47230927	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.93340606550261E-6	0.0
18	44757299	C	A	18	47230928	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	9.61306926674961E-5	0.082
18	44757299	C	G	18	47230928	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.17274945564555E-5	0.052
18	44757299	C	T	18	47230928	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.17274945564555E-5	0.104
18	44757300	A	C	18	47230929	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.29573166193658E-4	0.08
18	44757300	A	G	18	47230929	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.47944785771657E-4	0.106
18	44757300	A	T	18	47230929	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.43117087940175E-4	0.088
18	44757301	T	A	18	47230930	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.20070483362378E-5	0.008
18	44757301	T	C	18	47230930	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.79016171048125E-5	0.01
18	44757301	T	G	18	47230930	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	8.7704192765255E-5	0.026
18	44757302	T	A	18	47230931	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.523030612929411	0.404
18	44757302	T	C	18	47230931	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.300556327963219	0.392
18	44757302	T	G	18	47230931	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.134060531313428	0.42
18	44757303	T	A	18	47230932	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999008252132453	0.828
18	44757303	T	C	18	47230932	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.832801570148701	0.638
18	44757303	T	G	18	47230932	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.997673906681644	0.886
18	44757304	A	C	18	47230933	y	y	splicing	SKOR2(NM_001278063:exon5:c.2818+2T>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2818+2T>G)	.	.	0.999988247793601	0.926
18	44757304	A	G	18	47230933	y	y	splicing	SKOR2(NM_001278063:exon5:c.2818+2T>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2818+2T>C)	.	.	0.986973409415639	0.62
18	44757304	A	T	18	47230933	y	y	splicing	SKOR2(NM_001278063:exon5:c.2818+2T>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2818+2T>A)	.	.	0.999988247793601	0.928
18	44757305	C	A	18	47230934	y	y	splicing	SKOR2(NM_001278063:exon5:c.2818+1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2818+1G>T)	.	.	0.999986675681007	0.934
18	44757305	C	G	18	47230934	y	y	splicing	SKOR2(NM_001278063:exon5:c.2818+1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2818+1G>C)	.	.	0.999976137096505	0.934
18	44757305	C	T	18	47230934	y	y	splicing	SKOR2(NM_001278063:exon5:c.2818+1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2818+1G>A)	.	.	0.999986675681007	0.934
18	44757306	C	A	18	47230935	y	y	exonic	SKOR2	stopgain SNV	SKOR2:NM_001278063:exon4:c.G2818T:p.E940X;	exonic	ENSG00000215474	stopgain SNV	ENSG00000215474:ENST00000425639:exon4:c.G2818T:p.E940X;	0.999971109091454	0.978
18	44757306	C	G	18	47230935	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.G2818C:p.E940Q;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.G2818C:p.E940Q;	0.99999362482119	0.986
18	44757306	C	T	18	47230935	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.G2818A:p.E940K;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.G2818A:p.E940K;	0.999962477410168	0.99
18	44757307	T	A	18	47230936	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.A2817T:p.K939N;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.A2817T:p.K939N;	0.999376589239962	0.952
18	44757307	T	C	18	47230936	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon4:c.A2817G:p.K939K;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.A2817G:p.K939K;	0.949616058408233	0.7
18	44757307	T	G	18	47230936	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.A2817C:p.K939N;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.A2817C:p.K939N;	0.991611514246808	0.856
18	44757308	T	A	18	47230937	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.A2816T:p.K939I;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.A2816T:p.K939I;	0.896721925636508	0.53
18	44757308	T	C	18	47230937	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.A2816G:p.K939R;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.A2816G:p.K939R;	0.00276542509817582	0.078
18	44757308	T	G	18	47230937	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.A2816C:p.K939T;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.A2816C:p.K939T;	0.0120115158492322	0.234
18	44757370	A	C	18	47230999	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon4:c.T2754G:p.G918G;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.T2754G:p.G918G;	0.00149700420596261	0.062
18	44757370	A	G	18	47230999	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon4:c.T2754C:p.G918G;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.T2754C:p.G918G;	0.00149700420596261	0.084
18	44757370	A	T	18	47230999	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon4:c.T2754A:p.G918G;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.T2754A:p.G918G;	0.00267661575000395	0.146
18	44757371	C	A	18	47231000	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.G2753T:p.G918V;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.G2753T:p.G918V;	0.801750868256542	0.732
18	44757371	C	G	18	47231000	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.G2753C:p.G918A;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.G2753C:p.G918A;	0.816944952246115	0.654
18	44757371	C	T	18	47231000	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon4:c.G2753A:p.G918D;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon4:c.G2753A:p.G918D;	0.468234296024883	0.424
18	44757372	C	A	18	47231001	y	y	splicing	SKOR2(NM_001278063:exon5:c.2753-1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2753-1G>T)	.	.	0.999986675681007	0.934
18	44757372	C	G	18	47231001	y	y	splicing	SKOR2(NM_001278063:exon5:c.2753-1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2753-1G>C)	.	.	0.999986675681007	0.934
18	44757372	C	T	18	47231001	y	y	splicing	SKOR2(NM_001278063:exon5:c.2753-1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2753-1G>A)	.	.	0.999986675681007	0.884
18	44757373	T	A	18	47231002	y	y	splicing	SKOR2(NM_001278063:exon5:c.2753-2A>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2753-2A>T)	.	.	0.999988247793601	0.926
18	44757373	T	C	18	47231002	y	y	splicing	SKOR2(NM_001278063:exon5:c.2753-2A>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2753-2A>G)	.	.	0.999988247793601	0.926
18	44757373	T	G	18	47231002	y	y	splicing	SKOR2(NM_001278063:exon5:c.2753-2A>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon5:c.2753-2A>C)	.	.	0.999988247793601	0.926
18	44757374	T	A	18	47231003	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00168010618021989	0.01
18	44757374	T	C	18	47231003	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.811891625118137	0.444
18	44757374	T	G	18	47231003	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00112581775432391	0.038
18	44757375	T	A	18	47231004	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.94511814447476E-5	0.012
18	44757375	T	C	18	47231004	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.906620938493729	0.816
18	44757375	T	G	18	47231004	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.13733694152462E-5	0.002
18	44757376	T	A	18	47231005	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.0291873933743E-5	0.0
18	44757376	T	C	18	47231005	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.53630807999011E-5	0.0
18	44757376	T	G	18	47231005	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.11848901048002E-5	0.0
18	44757377	A	C	18	47231006	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.485010194252409	0.412
18	44757377	A	G	18	47231006	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.72849570528444E-4	0.018
18	44757377	A	T	18	47231006	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.3516484529907	0.388
18	44757378	A	C	18	47231007	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.396338597039251	0.248
18	44757378	A	G	18	47231007	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	9.52229085360067E-5	0.0
18	44757378	A	T	18	47231007	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.410091625807893	0.368
18	44757379	A	C	18	47231008	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0697380724993005	0.258
18	44757379	A	G	18	47231008	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	9.82344517191285E-5	0.006
18	44757379	A	T	18	47231008	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.239806223745521	0.206
18	44757380	A	C	18	47231009	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0696431530724847	0.34
18	44757380	A	G	18	47231009	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.29811360531343E-4	0.002
18	44757380	A	T	18	47231009	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0689739359330453	0.332
18	44757381	A	C	18	47231010	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00559633598135953	0.166
18	44757381	A	G	18	47231010	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.80003154264016E-5	0.0
18	44757381	A	T	18	47231010	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.004642260690064	0.152
18	44757382	A	C	18	47231011	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0613519248283864	0.538
18	44757382	A	G	18	47231011	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.48280109781066E-4	0.084
18	44757382	A	T	18	47231011	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.248400562453307	0.558
18	44757383	G	A	18	47231012	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.58150250244176E-5	0.002
18	44757383	G	C	18	47231012	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.95321080957264E-4	0.046
18	44757383	G	T	18	47231012	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.28449309349574E-4	0.05
18	44757534	T	A	18	47231163	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon3:c.A851T:p.E284V;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon3:c.A851T:p.E284V;	1.62904945671661E-4	0.116
18	44757534	T	C	18	47231163	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon3:c.A851G:p.E284G;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon3:c.A851G:p.E284G;	1.10853470952722E-4	0.024
18	44757534	T	G	18	47231163	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon3:c.A851C:p.E284A;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon3:c.A851C:p.E284A;	6.39826558468951E-5	0.006
18	44757535	C	A	18	47231164	y	y	exonic	SKOR2	stopgain SNV	SKOR2:NM_001037802:exon3:c.G850T:p.E284X;	exonic	ENSG00000215474	stopgain SNV	ENSG00000215474:ENST00000400404:exon3:c.G850T:p.E284X;	1.63915916572906E-4	0.002
18	44757535	C	G	18	47231164	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon3:c.G850C:p.E284Q;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon3:c.G850C:p.E284Q;	7.27456659313109E-5	0.0
18	44757535	C	T	18	47231164	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon3:c.G850A:p.E284K;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon3:c.G850A:p.E284K;	1.19087666414529E-4	0.0
18	44757536	C	A	18	47231165	y	y	splicing	SKOR2(NM_001037802:exon4:c.850-1G>T)	.	.	splicing	ENSG00000215474(ENST00000400404:exon4:c.850-1G>T)	.	.	3.33132576485227E-5	0.0
18	44757536	C	G	18	47231165	y	y	splicing	SKOR2(NM_001037802:exon4:c.850-1G>C)	.	.	splicing	ENSG00000215474(ENST00000400404:exon4:c.850-1G>C)	.	.	3.21557472225283E-5	0.0
18	44757536	C	T	18	47231165	y	y	splicing	SKOR2(NM_001037802:exon4:c.850-1G>A)	.	.	splicing	ENSG00000215474(ENST00000400404:exon4:c.850-1G>A)	.	.	3.33132576485227E-5	0.0
18	44757537	T	A	18	47231166	y	y	splicing	SKOR2(NM_001037802:exon4:c.850-2A>T)	.	.	splicing	ENSG00000215474(ENST00000400404:exon4:c.850-2A>T)	.	.	2.25524929795369E-5	0.002
18	44757537	T	C	18	47231166	y	y	splicing	SKOR2(NM_001037802:exon4:c.850-2A>G)	.	.	splicing	ENSG00000215474(ENST00000400404:exon4:c.850-2A>G)	.	.	1.46004206284423E-5	0.002
18	44757537	T	G	18	47231166	y	y	splicing	SKOR2(NM_001037802:exon4:c.850-2A>C)	.	.	splicing	ENSG00000215474(ENST00000400404:exon4:c.850-2A>C)	.	.	1.46004206284423E-5	0.002
18	44757538	G	A	18	47231167	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.68952365742707E-5	0.006
18	44757538	G	C	18	47231167	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.68952365742707E-5	0.002
18	44757538	G	T	18	47231167	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.68952365742707E-5	0.002
18	44757539	A	C	18	47231168	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.82827935381688E-5	0.004
18	44757539	A	G	18	47231168	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.82827935381688E-5	0.004
18	44757539	A	T	18	47231168	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.82827935381688E-5	0.004
18	44757540	A	C	18	47231169	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.08291490468438E-5	0.006
18	44757540	A	G	18	47231169	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.08291490468438E-5	0.006
18	44757540	A	T	18	47231169	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.08291490468438E-5	0.008
18	44757541	A	C	18	47231170	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.42005417025298E-5	0.0
18	44757541	A	G	18	47231170	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.42005417025298E-5	0.0
18	44757541	A	T	18	47231170	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.42005417025298E-5	0.0
18	44757542	C	A	18	47231171	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.64191646885158E-5	0.006
18	44757542	C	G	18	47231171	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.64191646885158E-5	0.006
18	44757542	C	T	18	47231171	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.270921211638E-5	0.008
18	44757543	A	C	18	47231172	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.07620641825897E-5	0.0
18	44757543	A	G	18	47231172	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.99153316237132E-5	0.0
18	44757543	A	T	18	47231172	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.07620641825897E-5	0.0
18	44757544	C	A	18	47231173	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.42005417025298E-5	0.0
18	44757544	C	G	18	47231173	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.42005417025298E-5	0.0
18	44757544	C	T	18	47231173	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.42005417025298E-5	0.0
18	44757545	G	A	18	47231174	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.24435440413632E-5	0.012
18	44757545	G	C	18	47231174	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.24435440413632E-5	0.014
18	44757545	G	T	18	47231174	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.24435440413632E-5	0.012
18	44757546	G	A	18	47231175	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.4056203239404E-5	0.094
18	44757546	G	C	18	47231175	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.4056203239404E-5	0.096
18	44757546	G	T	18	47231175	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.4056203239404E-5	0.092
18	44757547	A	C	18	47231176	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.89925739660516E-5	0.004
18	44757547	A	G	18	47231176	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.89925739660516E-5	0.004
18	44757547	A	T	18	47231176	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.89925739660516E-5	0.04
18	44771271	C	A	18	47244900	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00212117217885601	0.078
18	44771271	C	G	18	47244900	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00265969206170595	0.076
18	44771271	C	T	18	47244900	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00754788215096193	0.076
18	44771272	A	C	18	47244901	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00218450605701843	0.022
18	44771272	A	G	18	47244901	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00267633591506357	0.026
18	44771272	A	T	18	47244901	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00396603617548298	0.032
18	44771273	G	A	18	47244902	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0010692188125552	0.04
18	44771273	G	C	18	47244902	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00222967638930692	0.1
18	44771273	G	T	18	47244902	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00350635191632431	0.112
18	44771274	C	A	18	47244903	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999970970602266	0.874
18	44771274	C	G	18	47244903	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999153393669702	0.738
18	44771274	C	T	18	47244903	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.981525523377894	0.714
18	44771275	C	A	18	47244904	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.99734889695097E-5	0.01
18	44771275	C	G	18	47244904	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.85695601499009E-5	0.02
18	44771275	C	T	18	47244904	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.58585292428053E-4	0.026
18	44771276	T	A	18	47244905	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.996954762009239	0.818
18	44771276	T	C	18	47244905	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.460636540370545	0.534
18	44771276	T	G	18	47244905	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.929215461598795	0.806
18	44771277	A	C	18	47244906	y	y	splicing	SKOR2(NM_001278063:exon4:c.2752+2T>G;NM_001037802:exon3:c.849+2T>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2752+2T>G;ENST00000400404:exon3:c.849+2T>G)	.	.	0.999978952611685	0.928
18	44771277	A	G	18	47244906	y	y	splicing	SKOR2(NM_001278063:exon4:c.2752+2T>C;NM_001037802:exon3:c.849+2T>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2752+2T>C;ENST00000400404:exon3:c.849+2T>C)	.	.	0.989088479632871	0.692
18	44771277	A	T	18	47244906	y	y	splicing	SKOR2(NM_001278063:exon4:c.2752+2T>A;NM_001037802:exon3:c.849+2T>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2752+2T>A;ENST00000400404:exon3:c.849+2T>A)	.	.	0.999988247793601	0.926
18	44771278	C	A	18	47244907	y	y	splicing	SKOR2(NM_001278063:exon4:c.2752+1G>T;NM_001037802:exon3:c.849+1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2752+1G>T;ENST00000400404:exon3:c.849+1G>T)	.	.	0.999989072007339	0.934
18	44771278	C	G	18	47244907	y	y	splicing	SKOR2(NM_001278063:exon4:c.2752+1G>C;NM_001037802:exon3:c.849+1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2752+1G>C;ENST00000400404:exon3:c.849+1G>C)	.	.	0.999989072007339	0.934
18	44771278	C	T	18	47244907	y	y	splicing	SKOR2(NM_001278063:exon4:c.2752+1G>A;NM_001037802:exon3:c.849+1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2752+1G>A;ENST00000400404:exon3:c.849+1G>A)	.	.	0.999989072007339	0.934
18	44771279	C	A	18	47244908	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.G849T:p.Q283H;SKOR2:NM_001278063:exon3:c.G2752T:p.G918C;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.G849T:p.Q283H;ENSG00000215474:ENST00000425639:exon3:c.G2752T:p.G918C;	0.999948147241989	0.982
18	44771279	C	G	18	47244908	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.G849C:p.Q283H;SKOR2:NM_001278063:exon3:c.G2752C:p.G918R;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.G849C:p.Q283H;ENSG00000215474:ENST00000425639:exon3:c.G2752C:p.G918R;	0.99997907065757	0.984
18	44771279	C	T	18	47244908	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon3:c.G2752A:p.G918S;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon3:c.G2752A:p.G918S;	0.999959393918304	0.996
18	44771280	T	A	18	47244909	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.A848T:p.Q283L;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.A848T:p.Q283L;	0.993574109011623	0.746
18	44771280	T	C	18	47244909	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.A848G:p.Q283R;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.A848G:p.Q283R;	0.968450459479357	0.712
18	44771280	T	G	18	47244909	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.A848C:p.Q283P;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.A848C:p.Q283P;	0.755838496808495	0.54
18	44771281	G	A	18	47244910	y	y	exonic	SKOR2	stopgain SNV	SKOR2:NM_001037802:exon2:c.C847T:p.Q283X;	exonic	ENSG00000215474	stopgain SNV	ENSG00000215474:ENST00000400404:exon2:c.C847T:p.Q283X;	0.998979536177641	0.956
18	44771281	G	C	18	47244910	y	y	exonic	SKOR2	stopgain SNV	SKOR2:NM_001278063:exon3:c.C2750G:p.S917X;	exonic	ENSG00000215474	stopgain SNV	ENSG00000215474:ENST00000425639:exon3:c.C2750G:p.S917X;	0.95548755923892	0.69
18	44771281	G	T	18	47244910	y	y	exonic	SKOR2	stopgain SNV	SKOR2:NM_001278063:exon3:c.C2750A:p.S917X;	exonic	ENSG00000215474	stopgain SNV	ENSG00000215474:ENST00000425639:exon3:c.C2750A:p.S917X;	0.963785478077622	0.858
18	44771352	A	C	18	47244981	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.T776G:p.I259R;SKOR2:NM_001278063:exon3:c.T2679G:p.D893E;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.T776G:p.I259R;ENSG00000215474:ENST00000425639:exon3:c.T2679G:p.D893E;	7.23378973663915E-4	0.016
18	44771352	A	G	18	47244981	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.T776C:p.I259T;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.T776C:p.I259T;	9.00018913962566E-5	0.002
18	44771352	A	T	18	47244981	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.T776A:p.I259K;SKOR2:NM_001278063:exon3:c.T2679A:p.D893E;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.T776A:p.I259K;ENSG00000215474:ENST00000425639:exon3:c.T2679A:p.D893E;	5.99479975298033E-4	0.022
18	44771353	T	A	18	47244982	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.A775T:p.I259L;SKOR2:NM_001278063:exon3:c.A2678T:p.D893V;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.A775T:p.I259L;ENSG00000215474:ENST00000425639:exon3:c.A2678T:p.D893V;	0.0367001853098414	0.242
18	44771353	T	C	18	47244982	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.A775G:p.I259V;SKOR2:NM_001278063:exon3:c.A2678G:p.D893G;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.A775G:p.I259V;ENSG00000215474:ENST00000425639:exon3:c.A2678G:p.D893G;	0.00425008738357889	0.038
18	44771353	T	G	18	47244982	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001037802:exon2:c.A775C:p.I259L;SKOR2:NM_001278063:exon3:c.A2678C:p.D893A;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000400404:exon2:c.A775C:p.I259L;ENSG00000215474:ENST00000425639:exon3:c.A2678C:p.D893A;	0.0318824322599142	0.244
18	44771354	C	A	18	47244983	y	y	splicing	SKOR2(NM_001278063:exon4:c.2678-1G>T;NM_001037802:exon3:c.775-1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2678-1G>T;ENST00000400404:exon3:c.775-1G>T)	.	.	0.999989072007339	0.934
18	44771354	C	G	18	47244983	y	y	splicing	SKOR2(NM_001278063:exon4:c.2678-1G>C;NM_001037802:exon3:c.775-1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2678-1G>C;ENST00000400404:exon3:c.775-1G>C)	.	.	0.999980428708689	0.936
18	44771354	C	T	18	47244983	y	y	splicing	SKOR2(NM_001278063:exon4:c.2678-1G>A;NM_001037802:exon3:c.775-1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2678-1G>A;ENST00000400404:exon3:c.775-1G>A)	.	.	0.999989072007339	0.934
18	44771355	T	A	18	47244984	y	y	splicing	SKOR2(NM_001278063:exon4:c.2678-2A>T;NM_001037802:exon3:c.775-2A>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2678-2A>T;ENST00000400404:exon3:c.775-2A>T)	.	.	0.999978952611685	0.926
18	44771355	T	C	18	47244984	y	y	splicing	SKOR2(NM_001278063:exon4:c.2678-2A>G;NM_001037802:exon3:c.775-2A>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2678-2A>G;ENST00000400404:exon3:c.775-2A>G)	.	.	0.999978952611685	0.926
18	44771355	T	G	18	47244984	y	y	splicing	SKOR2(NM_001278063:exon4:c.2678-2A>C;NM_001037802:exon3:c.775-2A>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon4:c.2678-2A>C;ENST00000400404:exon3:c.775-2A>C)	.	.	0.999978952611685	0.926
18	44771356	A	C	18	47244985	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.99889825804947	0.738
18	44771356	A	G	18	47244985	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.18857328885105E-4	0.012
18	44771356	A	T	18	47244985	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.497442993381585	0.392
18	44771357	G	A	18	47244986	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00166760569881864	0.094
18	44771357	G	C	18	47244986	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00373828738650827	0.106
18	44771357	G	T	18	47244986	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	8.02869165795943E-4	0.13
18	44771358	A	C	18	47244987	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.5433887627375	0.538
18	44771358	A	G	18	47244987	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.75944058221413E-4	0.036
18	44771358	A	T	18	47244987	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.645567683336176	0.506
18	44771359	A	C	18	47244988	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.798088598271833	0.472
18	44771359	A	G	18	47244988	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00230224280646539	0.074
18	44771359	A	T	18	47244988	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.825669977093101	0.46
18	44771360	C	A	18	47244989	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.44319394672897E-5	0.01
18	44771360	C	G	18	47244989	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	6.09164666472224E-5	0.01
18	44771360	C	T	18	47244989	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.26542243843215E-4	0.026
18	44771361	C	A	18	47244990	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.66130413992232E-4	0.0
18	44771361	C	G	18	47244990	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.66130413992232E-4	0.002
18	44771361	C	T	18	47244990	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999395545094605	0.942
18	44771362	A	C	18	47244991	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.998682255905505	0.814
18	44771362	A	G	18	47244991	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.458096270622311	0.374
18	44771362	A	T	18	47244991	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999968575001785	0.942
18	44771363	A	C	18	47244992	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0203621240974793	0.422
18	44771363	A	G	18	47244992	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.31061217936765E-4	0.004
18	44771363	A	T	18	47244992	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0462929806696106	0.444
18	44771364	A	C	18	47244993	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.905270790415204	0.706
18	44771364	A	G	18	47244993	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0644306138346454	0.238
18	44771364	A	T	18	47244993	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.972015496508179	0.762
18	44771365	A	C	18	47244994	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0961990840477046	0.402
18	44771365	A	G	18	47244994	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00143564912649337	0.034
18	44771365	A	T	18	47244994	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.641166345757492	0.574
18	44771861	T	A	18	47245490	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	7.52480869551886E-5	0.0
18	44771861	T	C	18	47245490	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.04599905897156E-4	0.004
18	44771861	T	G	18	47245490	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.0235831187455E-4	0.0
18	44771862	T	A	18	47245491	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.04348779220868E-4	0.124
18	44771862	T	C	18	47245491	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	2.36691327204159E-4	0.008
18	44771862	T	G	18	47245491	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	7.63470159177275E-5	0.0
18	44771863	T	A	18	47245492	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.50292098089063E-4	0.006
18	44771863	T	C	18	47245492	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	5.87590842639266E-4	0.002
18	44771863	T	G	18	47245492	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0196730394422629	0.136
18	44771864	T	A	18	47245493	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00128142331160578	0.072
18	44771864	T	C	18	47245493	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00153274285656705	0.03
18	44771864	T	G	18	47245493	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	3.10569635176996E-4	0.064
18	44771865	T	A	18	47245494	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.994528893702566	0.864
18	44771865	T	C	18	47245494	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.994933772361856	0.886
18	44771865	T	G	18	47245494	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.992386252319998	0.874
18	44771866	T	A	18	47245495	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999727545448979	0.968
18	44771866	T	C	18	47245495	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999130419786705	0.93
18	44771866	T	G	18	47245495	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999886090754589	0.972
18	44771867	A	C	18	47245496	y	y	splicing	SKOR2(NM_001278063:exon3:c.2677+2T>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2677+2T>G)	.	.	0.999988247793601	0.93
18	44771867	A	G	18	47245496	y	y	splicing	SKOR2(NM_001278063:exon3:c.2677+2T>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2677+2T>C)	.	.	0.997324382943118	0.686
18	44771867	A	T	18	47245496	y	y	splicing	SKOR2(NM_001278063:exon3:c.2677+2T>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2677+2T>A)	.	.	0.999988247793601	0.93
18	44771868	C	A	18	47245497	y	y	splicing	SKOR2(NM_001278063:exon3:c.2677+1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2677+1G>T)	.	.	0.999989072007339	0.934
18	44771868	C	G	18	47245497	y	y	splicing	SKOR2(NM_001278063:exon3:c.2677+1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2677+1G>C)	.	.	0.999989072007339	0.934
18	44771868	C	T	18	47245497	y	y	splicing	SKOR2(NM_001278063:exon3:c.2677+1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2677+1G>A)	.	.	0.999989072007339	0.934
18	44771869	C	A	18	47245498	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2677T:p.D893Y;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.G2677T:p.D893Y;	0.9999765467729	0.992
18	44771869	C	G	18	47245498	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2677C:p.D893H;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.G2677C:p.D893H;	0.999995502419301	1.0
18	44771869	C	T	18	47245498	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2677A:p.D893N;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.G2677A:p.D893N;	0.999994941670437	0.986
18	44771870	T	A	18	47245499	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon2:c.A2676T:p.S892S;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.A2676T:p.S892S;	0.996631521525022	0.968
18	44771870	T	C	18	47245499	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon2:c.A2676G:p.S892S;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.A2676G:p.S892S;	0.993788890144203	0.96
18	44771870	T	G	18	47245499	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon2:c.A2676C:p.S892S;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.A2676C:p.S892S;	0.944992255470999	0.824
18	44771871	G	A	18	47245500	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.C2675T:p.S892L;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.C2675T:p.S892L;	0.999830353257694	0.97
18	44771871	G	C	18	47245500	y	y	exonic	SKOR2	stopgain SNV	SKOR2:NM_001278063:exon2:c.C2675G:p.S892X;	exonic	ENSG00000215474	stopgain SNV	ENSG00000215474:ENST00000425639:exon2:c.C2675G:p.S892X;	0.961615258171606	0.696
18	44771871	G	T	18	47245500	y	y	exonic	SKOR2	stopgain SNV	SKOR2:NM_001278063:exon2:c.C2675A:p.S892X;	exonic	ENSG00000215474	stopgain SNV	ENSG00000215474:ENST00000425639:exon2:c.C2675A:p.S892X;	0.959503144631447	0.846
18	44771931	C	A	18	47245560	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2615T:p.S872I;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.G2615T:p.S872I;	0.00131653996787792	0.02
18	44771931	C	G	18	47245560	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2615C:p.S872T;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.G2615C:p.S872T;	2.96534251828165E-4	0.026
18	44771931	C	T	18	47245560	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.G2615A:p.S872N;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.G2615A:p.S872N;	1.89785161374302E-4	0.028
18	44771932	T	A	18	47245561	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.A2614T:p.S872C;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.A2614T:p.S872C;	0.0176181677680254	0.146
18	44771932	T	C	18	47245561	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.A2614G:p.S872G;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.A2614G:p.S872G;	3.02604985069028E-4	0.038
18	44771932	T	G	18	47245561	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon2:c.A2614C:p.S872R;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon2:c.A2614C:p.S872R;	0.00431799711440485	0.204
18	44771933	C	A	18	47245562	y	y	splicing	SKOR2(NM_001278063:exon3:c.2614-1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2614-1G>T)	.	.	0.999991783345782	0.952
18	44771933	C	G	18	47245562	y	y	splicing	SKOR2(NM_001278063:exon3:c.2614-1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2614-1G>C)	.	.	0.999991783345782	0.95
18	44771933	C	T	18	47245562	y	y	splicing	SKOR2(NM_001278063:exon3:c.2614-1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2614-1G>A)	.	.	0.999991783345782	0.952
18	44771934	T	A	18	47245563	y	y	splicing	SKOR2(NM_001278063:exon3:c.2614-2A>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2614-2A>T)	.	.	0.999988247793601	0.942
18	44771934	T	C	18	47245563	y	y	splicing	SKOR2(NM_001278063:exon3:c.2614-2A>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2614-2A>G)	.	.	0.999988247793601	0.942
18	44771934	T	G	18	47245563	y	y	splicing	SKOR2(NM_001278063:exon3:c.2614-2A>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon3:c.2614-2A>C)	.	.	0.999988247793601	0.942
18	44771935	G	A	18	47245564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.289278841110894	0.106
18	44771935	G	C	18	47245564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999914560012032	0.98
18	44771935	G	T	18	47245564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999594114383767	0.864
18	44771936	T	A	18	47245565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00438534757344159	0.072
18	44771936	T	C	18	47245565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00167743349390678	0.206
18	44771936	T	G	18	47245565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	8.44284136536902E-4	0.162
18	44771937	G	A	18	47245566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	9.6397355059576E-4	0.03
18	44771937	G	C	18	47245566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999861975014962	0.912
18	44771937	G	T	18	47245566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0135223299309977	0.224
18	44771938	T	A	18	47245567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	1.19642167395641E-4	0.0
18	44771938	T	C	18	47245567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	9.61038227949988E-4	0.072
18	44771938	T	G	18	47245567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	4.21076332018651E-4	0.028
18	44771939	G	A	18	47245568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	7.78009055932637E-4	0.0
18	44771939	G	C	18	47245568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00825755573177732	0.082
18	44771939	G	T	18	47245568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0264513145128748	0.104
18	44771940	G	A	18	47245569	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00765603258862625	0.114
18	44771940	G	C	18	47245569	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.511845129144161	0.39
18	44771940	G	T	18	47245569	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.771082193854248	0.452
18	44771941	A	C	18	47245570	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.313086315013303	0.374
18	44771941	A	G	18	47245570	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00156254168175747	0.116
18	44771941	A	T	18	47245570	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.41096989047249	0.358
18	44771942	A	C	18	47245571	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0607101218253816	0.188
18	44771942	A	G	18	47245571	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.00224577813346556	0.102
18	44771942	A	T	18	47245571	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.099991873827518	0.258
18	44771943	A	C	18	47245572	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.984493634044314	0.804
18	44771943	A	G	18	47245572	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.953616698739253	0.556
18	44771943	A	T	18	47245572	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.985575267479939	0.814
18	44771944	A	C	18	47245573	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.989437352046128	0.632
18	44771944	A	G	18	47245573	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.78891714173454	0.474
18	44771944	A	T	18	47245573	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.980523882223947	0.65
18	44772934	A	C	18	47246563	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0375246083548592	0.17
18	44772934	A	G	18	47246563	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.183243192653211	0.268
18	44772934	A	T	18	47246563	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0395633811688178	0.246
18	44772935	T	A	18	47246564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0887654593225494	0.288
18	44772935	T	C	18	47246564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0395633811688178	0.192
18	44772935	T	G	18	47246564	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.161831077213914	0.302
18	44772936	A	C	18	47246565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999522861325571	0.926
18	44772936	A	G	18	47246565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.99977020203893	0.96
18	44772936	A	T	18	47246565	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999716458903365	0.856
18	44772937	T	A	18	47246566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.562861700563079	0.53
18	44772937	T	C	18	47246566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.0271942718632284	0.206
18	44772937	T	G	18	47246566	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.138189123180048	0.34
18	44772938	T	A	18	47246567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999962686182072	0.95
18	44772938	T	C	18	47246567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999923255300392	0.97
18	44772938	T	G	18	47246567	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.99998565659515	0.96
18	44772939	T	A	18	47246568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999896772306585	0.914
18	44772939	T	C	18	47246568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999831667852082	0.978
18	44772939	T	G	18	47246568	y	y	intronic	SKOR2	.	.	intronic	ENSG00000215474	.	.	0.999920881390005	0.968
18	44772940	A	C	18	47246569	y	y	splicing	SKOR2(NM_001278063:exon2:c.2613+2T>G)	.	.	splicing	ENSG00000215474(ENST00000425639:exon2:c.2613+2T>G)	.	.	0.999988624979899	0.944
18	44772940	A	G	18	47246569	y	y	splicing	SKOR2(NM_001278063:exon2:c.2613+2T>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon2:c.2613+2T>C)	.	.	0.991358999571704	0.622
18	44772940	A	T	18	47246569	y	y	splicing	SKOR2(NM_001278063:exon2:c.2613+2T>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon2:c.2613+2T>A)	.	.	0.999988624979899	0.944
18	44772941	C	A	18	47246570	y	y	splicing	SKOR2(NM_001278063:exon2:c.2613+1G>T)	.	.	splicing	ENSG00000215474(ENST00000425639:exon2:c.2613+1G>T)	.	.	0.999979422316293	0.944
18	44772941	C	G	18	47246570	y	y	splicing	SKOR2(NM_001278063:exon2:c.2613+1G>C)	.	.	splicing	ENSG00000215474(ENST00000425639:exon2:c.2613+1G>C)	.	.	0.999979422316293	0.944
18	44772941	C	T	18	47246570	y	y	splicing	SKOR2(NM_001278063:exon2:c.2613+1G>A)	.	.	splicing	ENSG00000215474(ENST00000425639:exon2:c.2613+1G>A)	.	.	0.999979422316293	0.944
18	44772942	A	C	18	47246571	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon1:c.T2613G:p.D871E;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.T2613G:p.D871E;	5.43666201061637E-4	0.16
18	44772942	A	G	18	47246571	y	y	exonic	SKOR2	synonymous SNV	SKOR2:NM_001278063:exon1:c.T2613C:p.D871D;	exonic	ENSG00000215474	synonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.T2613C:p.D871D;	0.0686769353508245	0.222
18	44772942	A	T	18	47246571	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon1:c.T2613A:p.D871E;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.T2613A:p.D871E;	0.00127961221354571	0.136
18	44772943	T	A	18	47246572	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon1:c.A2612T:p.D871V;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.A2612T:p.D871V;	0.999862662475669	0.988
18	44772943	T	C	18	47246572	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon1:c.A2612G:p.D871G;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.A2612G:p.D871G;	0.999757647017942	0.99
18	44772943	T	G	18	47246572	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon1:c.A2612C:p.D871A;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.A2612C:p.D871A;	0.999770015310534	0.982
18	44772944	C	A	18	47246573	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon1:c.G2611T:p.D871Y;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.G2611T:p.D871Y;	0.93563910797167	0.716
18	44772944	C	G	18	47246573	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon1:c.G2611C:p.D871H;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.G2611C:p.D871H;	0.670426703440225	0.47
18	44772944	C	T	18	47246573	y	y	exonic	SKOR2	nonsynonymous SNV	SKOR2:NM_001278063:exon1:c.G2611A:p.D871N;	exonic	ENSG00000215474	nonsynonymous SNV	ENSG00000215474:ENST00000425639:exon1:c.G2611A:p.D871N;	0.919778379541584	0.612
18	45368320	T	A	18	47841949	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon10:c.A1192T:p.R398W;SMAD2:NM_005901:exon11:c.A1282T:p.R428W;SMAD2:NM_001003652:exon11:c.A1282T:p.R428W;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon10:c.A1192T:p.R398W;ENSG00000175387:ENST00000262160:exon11:c.A1282T:p.R428W;ENSG00000175387:ENST00000402690:exon11:c.A1282T:p.R428W;ENSG00000175387:ENST00000586040:exon9:c.A1192T:p.R398W;	0.911768588662848	0.714
18	45368320	T	C	18	47841949	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon10:c.A1192G:p.R398G;SMAD2:NM_005901:exon11:c.A1282G:p.R428G;SMAD2:NM_001003652:exon11:c.A1282G:p.R428G;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon10:c.A1192G:p.R398G;ENSG00000175387:ENST00000262160:exon11:c.A1282G:p.R428G;ENSG00000175387:ENST00000402690:exon11:c.A1282G:p.R428G;ENSG00000175387:ENST00000586040:exon9:c.A1192G:p.R398G;	0.943722534689383	0.686
18	45368320	T	G	18	47841949	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon10:c.A1192C:p.R398R;SMAD2:NM_005901:exon11:c.A1282C:p.R428R;SMAD2:NM_001003652:exon11:c.A1282C:p.R428R;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon10:c.A1192C:p.R398R;ENSG00000175387:ENST00000262160:exon11:c.A1282C:p.R428R;ENSG00000175387:ENST00000402690:exon11:c.A1282C:p.R428R;ENSG00000175387:ENST00000586040:exon9:c.A1192C:p.R398R;	0.00633580590660813	0.07
18	45368321	T	A	18	47841950	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon10:c.A1191T:p.R397R;SMAD2:NM_005901:exon11:c.A1281T:p.R427R;SMAD2:NM_001003652:exon11:c.A1281T:p.R427R;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon10:c.A1191T:p.R397R;ENSG00000175387:ENST00000262160:exon11:c.A1281T:p.R427R;ENSG00000175387:ENST00000402690:exon11:c.A1281T:p.R427R;ENSG00000175387:ENST00000586040:exon9:c.A1191T:p.R397R;	0.00939927335992876	0.164
18	45368321	T	C	18	47841950	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon10:c.A1191G:p.R397R;SMAD2:NM_005901:exon11:c.A1281G:p.R427R;SMAD2:NM_001003652:exon11:c.A1281G:p.R427R;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon10:c.A1191G:p.R397R;ENSG00000175387:ENST00000262160:exon11:c.A1281G:p.R427R;ENSG00000175387:ENST00000402690:exon11:c.A1281G:p.R427R;ENSG00000175387:ENST00000586040:exon9:c.A1191G:p.R397R;	2.06129966565974E-4	0.024
18	45368321	T	G	18	47841950	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon10:c.A1191C:p.R397R;SMAD2:NM_005901:exon11:c.A1281C:p.R427R;SMAD2:NM_001003652:exon11:c.A1281C:p.R427R;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon10:c.A1191C:p.R397R;ENSG00000175387:ENST00000262160:exon11:c.A1281C:p.R427R;ENSG00000175387:ENST00000402690:exon11:c.A1281C:p.R427R;ENSG00000175387:ENST00000586040:exon9:c.A1191C:p.R397R;	0.0129585935205482	0.114
18	45368322	C	A	18	47841951	y	y	splicing	SMAD2(NM_005901:exon12:c.1281-1G>T;NM_001135937:exon11:c.1191-1G>T;NM_001003652:exon12:c.1281-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon12:c.1281-1G>T;ENST00000262160:exon12:c.1281-1G>T;ENST00000356825:exon11:c.1191-1G>T;ENST00000586040:exon10:c.1191-1G>T)	.	.	0.999985532734767	0.948
18	45368322	C	G	18	47841951	y	y	splicing	SMAD2(NM_005901:exon12:c.1281-1G>C;NM_001135937:exon11:c.1191-1G>C;NM_001003652:exon12:c.1281-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon12:c.1281-1G>C;ENST00000262160:exon12:c.1281-1G>C;ENST00000356825:exon11:c.1191-1G>C;ENST00000586040:exon10:c.1191-1G>C)	.	.	0.999985532734767	0.948
18	45368322	C	T	18	47841951	y	y	splicing	SMAD2(NM_005901:exon12:c.1281-1G>A;NM_001135937:exon11:c.1191-1G>A;NM_001003652:exon12:c.1281-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon12:c.1281-1G>A;ENST00000262160:exon12:c.1281-1G>A;ENST00000356825:exon11:c.1191-1G>A;ENST00000586040:exon10:c.1191-1G>A)	.	.	0.999985532734767	0.948
18	45368323	T	A	18	47841952	y	y	splicing	SMAD2(NM_005901:exon12:c.1281-2A>T;NM_001135937:exon11:c.1191-2A>T;NM_001003652:exon12:c.1281-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon12:c.1281-2A>T;ENST00000262160:exon12:c.1281-2A>T;ENST00000356825:exon11:c.1191-2A>T;ENST00000586040:exon10:c.1191-2A>T)	.	.	0.999988247793601	0.95
18	45368323	T	C	18	47841952	y	y	splicing	SMAD2(NM_005901:exon12:c.1281-2A>G;NM_001135937:exon11:c.1191-2A>G;NM_001003652:exon12:c.1281-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon12:c.1281-2A>G;ENST00000262160:exon12:c.1281-2A>G;ENST00000356825:exon11:c.1191-2A>G;ENST00000586040:exon10:c.1191-2A>G)	.	.	0.999988247793601	0.95
18	45368323	T	G	18	47841952	y	y	splicing	SMAD2(NM_005901:exon12:c.1281-2A>C;NM_001135937:exon11:c.1191-2A>C;NM_001003652:exon12:c.1281-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon12:c.1281-2A>C;ENST00000262160:exon12:c.1281-2A>C;ENST00000356825:exon11:c.1191-2A>C;ENST00000586040:exon10:c.1191-2A>C)	.	.	0.999988247793601	0.95
18	45368324	G	A	18	47841953	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00514283767521324	0.096
18	45368324	G	C	18	47841953	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99979417266157	0.92
18	45368324	G	T	18	47841953	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.959508964007528	0.854
18	45368325	T	A	18	47841954	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0226754014747389	0.1
18	45368325	T	C	18	47841954	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998447061063854	0.806
18	45368325	T	G	18	47841954	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00794692077360768	0.074
18	45368326	T	A	18	47841955	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.16099097172905E-4	0.04
18	45368326	T	C	18	47841955	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999462348205721	0.974
18	45368326	T	G	18	47841955	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.9018802260786E-4	0.038
18	45368327	T	A	18	47841956	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.5682671984912E-5	0.032
18	45368327	T	C	18	47841956	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.20203442401508E-5	0.008
18	45368327	T	G	18	47841956	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.16401692457836E-5	0.0
18	45368328	A	C	18	47841957	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00103279017987177	0.036
18	45368328	A	G	18	47841957	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.02140761812382E-4	0.032
18	45368328	A	T	18	47841957	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00494124666396904	0.134
18	45368329	A	C	18	47841958	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.069074259468251	0.42
18	45368329	A	G	18	47841958	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.43682480514247E-4	0.022
18	45368329	A	T	18	47841958	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.262164852525806	0.462
18	45368330	A	C	18	47841959	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.109073686027198	0.528
18	45368330	A	G	18	47841959	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.48863295387649E-4	0.06
18	45368330	A	T	18	47841959	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0685800037222525	0.532
18	45368331	A	C	18	47841960	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0798340401055267	0.448
18	45368331	A	G	18	47841960	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00115901429226809	0.092
18	45368331	A	T	18	47841960	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.190392849733974	0.54
18	45368332	G	A	18	47841961	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.25433788301828E-4	0.09
18	45368332	G	C	18	47841961	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.60371697899214E-4	0.108
18	45368332	G	T	18	47841961	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0052418843309501	0.136
18	45368333	A	C	18	47841962	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.475868945680532	0.758
18	45368333	A	G	18	47841962	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.060023868522306	0.16
18	45368333	A	T	18	47841962	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.965905585541158	0.82
18	45371703	T	A	18	47845332	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1198T:p.I400L;	2.94092772707875E-5	0.0
18	45371703	T	C	18	47845332	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1198G:p.I400V;	7.19838496773655E-5	0.0
18	45371703	T	G	18	47845332	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1198C:p.I400L;	3.61464922675008E-5	0.0
18	45371704	T	A	18	47845333	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1197T:p.E399D;	2.72405649592283E-4	0.004
18	45371704	T	C	18	47845333	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1197G:p.E399E;	1.65154873760533E-4	0.0
18	45371704	T	G	18	47845333	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1197C:p.E399D;	9.73731662929237E-5	0.0
18	45371705	T	A	18	47845334	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1196T:p.E399V;	5.29088820546331E-4	0.026
18	45371705	T	C	18	47845334	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1196G:p.E399G;	6.0207056800123E-4	0.016
18	45371705	T	G	18	47845334	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1196C:p.E399A;	0.00417309062390305	0.134
18	45371706	C	A	18	47845335	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000591214:exon9:c.G1195T:p.E399X;	0.999610248116316	0.972
18	45371706	C	G	18	47845335	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.G1195C:p.E399Q;	0.999610248116316	0.964
18	45371706	C	T	18	47845335	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.G1195A:p.E399K;	0.999986041460229	0.964
18	45371707	A	C	18	47845336	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000591214:exon9:c.T1194G:p.Y398X;	7.44320756043436E-5	0.034
18	45371707	A	G	18	47845336	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.T1194C:p.Y398Y;	3.62298513991255E-4	0.018
18	45371707	A	T	18	47845336	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000591214:exon9:c.T1194A:p.Y398X;	1.79772060005984E-4	0.03
18	45371708	T	A	18	47845337	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1193T:p.Y398F;	0.999967027004274	0.962
18	45371708	T	C	18	47845337	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1193G:p.Y398C;	0.999517252722045	0.942
18	45371708	T	G	18	47845337	y	n	intronic	SMAD2	.	.	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.A1193C:p.Y398S;	0.99996795210793	0.926
18	45371709	A	C	18	47845338	y	n	splicing	SMAD2(NM_005901:exon11:c.1280+2T>G;NM_001135937:exon10:c.1190+2T>G;NM_001003652:exon11:c.1280+2T>G)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon11:c.1280+2T>G;ENST00000262160:exon11:c.1280+2T>G;ENST00000356825:exon10:c.1190+2T>G;ENST00000586040:exon9:c.1190+2T>G)	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.T1192G:p.Y398D;	0.999988247793601	0.928
18	45371709	A	G	18	47845338	y	n	splicing	SMAD2(NM_005901:exon11:c.1280+2T>C;NM_001135937:exon10:c.1190+2T>C;NM_001003652:exon11:c.1280+2T>C)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon11:c.1280+2T>C;ENST00000262160:exon11:c.1280+2T>C;ENST00000356825:exon10:c.1190+2T>C;ENST00000586040:exon9:c.1190+2T>C)	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.T1192C:p.Y398H;	0.99991522016916	0.856
18	45371709	A	T	18	47845338	y	n	splicing	SMAD2(NM_005901:exon11:c.1280+2T>A;NM_001135937:exon10:c.1190+2T>A;NM_001003652:exon11:c.1280+2T>A)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon11:c.1280+2T>A;ENST00000262160:exon11:c.1280+2T>A;ENST00000356825:exon10:c.1190+2T>A;ENST00000586040:exon9:c.1190+2T>A)	nonsynonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.T1192A:p.Y398N;	0.999988247793601	0.928
18	45371710	C	A	18	47845339	y	n	splicing	SMAD2(NM_005901:exon11:c.1280+1G>T;NM_001135937:exon10:c.1190+1G>T;NM_001003652:exon11:c.1280+1G>T)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon11:c.1280+1G>T;ENST00000262160:exon11:c.1280+1G>T;ENST00000356825:exon10:c.1190+1G>T;ENST00000586040:exon9:c.1190+1G>T)	synonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.G1191T:p.R397R;	0.999985532734767	0.936
18	45371710	C	G	18	47845339	y	n	splicing	SMAD2(NM_005901:exon11:c.1280+1G>C;NM_001135937:exon10:c.1190+1G>C;NM_001003652:exon11:c.1280+1G>C)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon11:c.1280+1G>C;ENST00000262160:exon11:c.1280+1G>C;ENST00000356825:exon10:c.1190+1G>C;ENST00000586040:exon9:c.1190+1G>C)	synonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.G1191C:p.R397R;	0.999985532734767	0.936
18	45371710	C	T	18	47845339	y	n	splicing	SMAD2(NM_005901:exon11:c.1280+1G>A;NM_001135937:exon10:c.1190+1G>A;NM_001003652:exon11:c.1280+1G>A)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon11:c.1280+1G>A;ENST00000262160:exon11:c.1280+1G>A;ENST00000356825:exon10:c.1190+1G>A;ENST00000586040:exon9:c.1190+1G>A)	synonymous SNV	ENSG00000175387:ENST00000591214:exon9:c.G1191A:p.R397R;	0.999985532734767	0.936
18	45371711	C	A	18	47845340	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon9:c.G1190T:p.R397L;SMAD2:NM_005901:exon10:c.G1280T:p.R427L;SMAD2:NM_001003652:exon10:c.G1280T:p.R427L;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.G1190T:p.R397L;ENSG00000175387:ENST00000591214:exon9:c.G1190T:p.R397L;ENSG00000175387:ENST00000262160:exon10:c.G1280T:p.R427L;ENSG00000175387:ENST00000402690:exon10:c.G1280T:p.R427L;ENSG00000175387:ENST00000586040:exon8:c.G1190T:p.R397L;	0.999986101446753	1.0
18	45371711	C	G	18	47845340	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon9:c.G1190C:p.R397P;SMAD2:NM_005901:exon10:c.G1280C:p.R427P;SMAD2:NM_001003652:exon10:c.G1280C:p.R427P;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.G1190C:p.R397P;ENSG00000175387:ENST00000591214:exon9:c.G1190C:p.R397P;ENSG00000175387:ENST00000262160:exon10:c.G1280C:p.R427P;ENSG00000175387:ENST00000402690:exon10:c.G1280C:p.R427P;ENSG00000175387:ENST00000586040:exon8:c.G1190C:p.R397P;	0.999996650978798	1.0
18	45371711	C	T	18	47845340	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon9:c.G1190A:p.R397Q;SMAD2:NM_005901:exon10:c.G1280A:p.R427Q;SMAD2:NM_001003652:exon10:c.G1280A:p.R427Q;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.G1190A:p.R397Q;ENSG00000175387:ENST00000591214:exon9:c.G1190A:p.R397Q;ENSG00000175387:ENST00000262160:exon10:c.G1280A:p.R427Q;ENSG00000175387:ENST00000402690:exon10:c.G1280A:p.R427Q;ENSG00000175387:ENST00000586040:exon8:c.G1190A:p.R397Q;	0.999993153539319	1.0
18	45371712	G	A	18	47845341	y	n	exonic	SMAD2	stopgain SNV	SMAD2:NM_001135937:exon9:c.C1189T:p.R397X;SMAD2:NM_005901:exon10:c.C1279T:p.R427X;SMAD2:NM_001003652:exon10:c.C1279T:p.R427X;	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000356825:exon9:c.C1189T:p.R397X;ENSG00000175387:ENST00000262160:exon10:c.C1279T:p.R427X;ENSG00000175387:ENST00000402690:exon10:c.C1279T:p.R427X;ENSG00000175387:ENST00000586040:exon8:c.C1189T:p.R397X;	0.0748234913922493	0.486
18	45371712	G	C	18	47845341	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon9:c.C1189G:p.R397G;SMAD2:NM_005901:exon10:c.C1279G:p.R427G;SMAD2:NM_001003652:exon10:c.C1279G:p.R427G;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.C1189G:p.R397G;ENSG00000175387:ENST00000591214:exon9:c.C1189G:p.R397G;ENSG00000175387:ENST00000262160:exon10:c.C1279G:p.R427G;ENSG00000175387:ENST00000402690:exon10:c.C1279G:p.R427G;ENSG00000175387:ENST00000586040:exon8:c.C1189G:p.R397G;	0.0159450944280504	0.21
18	45371712	G	T	18	47845341	y	n	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon9:c.C1189A:p.R397R;SMAD2:NM_005901:exon10:c.C1279A:p.R427R;SMAD2:NM_001003652:exon10:c.C1279A:p.R427R;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.C1189A:p.R397R;ENSG00000175387:ENST00000591214:exon9:c.C1189A:p.R397R;ENSG00000175387:ENST00000262160:exon10:c.C1279A:p.R427R;ENSG00000175387:ENST00000402690:exon10:c.C1279A:p.R427R;ENSG00000175387:ENST00000586040:exon8:c.C1189A:p.R397R;	5.32312451270031E-4	0.126
18	45371713	G	A	18	47845342	y	n	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon9:c.C1188T:p.Y396Y;SMAD2:NM_005901:exon10:c.C1278T:p.Y426Y;SMAD2:NM_001003652:exon10:c.C1278T:p.Y426Y;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.C1188T:p.Y396Y;ENSG00000175387:ENST00000591214:exon9:c.C1188T:p.Y396Y;ENSG00000175387:ENST00000262160:exon10:c.C1278T:p.Y426Y;ENSG00000175387:ENST00000402690:exon10:c.C1278T:p.Y426Y;ENSG00000175387:ENST00000586040:exon8:c.C1188T:p.Y396Y;	0.00601977242247508	0.162
18	45371713	G	C	18	47845342	y	n	exonic	SMAD2	stopgain SNV	SMAD2:NM_001135937:exon9:c.C1188G:p.Y396X;SMAD2:NM_005901:exon10:c.C1278G:p.Y426X;SMAD2:NM_001003652:exon10:c.C1278G:p.Y426X;	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000356825:exon9:c.C1188G:p.Y396X;ENSG00000175387:ENST00000591214:exon9:c.C1188G:p.Y396X;ENSG00000175387:ENST00000262160:exon10:c.C1278G:p.Y426X;ENSG00000175387:ENST00000402690:exon10:c.C1278G:p.Y426X;ENSG00000175387:ENST00000586040:exon8:c.C1188G:p.Y396X;	2.08482031530739E-4	0.228
18	45371713	G	T	18	47845342	y	n	exonic	SMAD2	stopgain SNV	SMAD2:NM_001135937:exon9:c.C1188A:p.Y396X;SMAD2:NM_005901:exon10:c.C1278A:p.Y426X;SMAD2:NM_001003652:exon10:c.C1278A:p.Y426X;	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000356825:exon9:c.C1188A:p.Y396X;ENSG00000175387:ENST00000591214:exon9:c.C1188A:p.Y396X;ENSG00000175387:ENST00000262160:exon10:c.C1278A:p.Y426X;ENSG00000175387:ENST00000402690:exon10:c.C1278A:p.Y426X;ENSG00000175387:ENST00000586040:exon8:c.C1188A:p.Y396X;	3.59232783869823E-5	0.3
18	45371854	G	A	18	47845483	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon9:c.C1047T:p.G349G;SMAD2:NM_005901:exon10:c.C1137T:p.G379G;SMAD2:NM_001003652:exon10:c.C1137T:p.G379G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.C1047T:p.G349G;ENSG00000175387:ENST00000591214:exon9:c.C1047T:p.G349G;ENSG00000175387:ENST00000262160:exon10:c.C1137T:p.G379G;ENSG00000175387:ENST00000402690:exon10:c.C1137T:p.G379G;ENSG00000175387:ENST00000586040:exon8:c.C1047T:p.G349G;	4.10698711128813E-5	0.0
18	45371854	G	C	18	47845483	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon9:c.C1047G:p.G349G;SMAD2:NM_005901:exon10:c.C1137G:p.G379G;SMAD2:NM_001003652:exon10:c.C1137G:p.G379G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.C1047G:p.G349G;ENSG00000175387:ENST00000591214:exon9:c.C1047G:p.G349G;ENSG00000175387:ENST00000262160:exon10:c.C1137G:p.G379G;ENSG00000175387:ENST00000402690:exon10:c.C1137G:p.G379G;ENSG00000175387:ENST00000586040:exon8:c.C1047G:p.G349G;	3.31355634688976E-5	0.0
18	45371854	G	T	18	47845483	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon9:c.C1047A:p.G349G;SMAD2:NM_005901:exon10:c.C1137A:p.G379G;SMAD2:NM_001003652:exon10:c.C1137A:p.G379G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.C1047A:p.G349G;ENSG00000175387:ENST00000591214:exon9:c.C1047A:p.G349G;ENSG00000175387:ENST00000262160:exon10:c.C1137A:p.G379G;ENSG00000175387:ENST00000402690:exon10:c.C1137A:p.G379G;ENSG00000175387:ENST00000586040:exon8:c.C1047A:p.G349G;	7.00772853308008E-5	0.002
18	45371855	C	A	18	47845484	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon9:c.G1046T:p.G349V;SMAD2:NM_005901:exon10:c.G1136T:p.G379V;SMAD2:NM_001003652:exon10:c.G1136T:p.G379V;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.G1046T:p.G349V;ENSG00000175387:ENST00000591214:exon9:c.G1046T:p.G349V;ENSG00000175387:ENST00000262160:exon10:c.G1136T:p.G379V;ENSG00000175387:ENST00000402690:exon10:c.G1136T:p.G379V;ENSG00000175387:ENST00000586040:exon8:c.G1046T:p.G349V;	0.99981541868874	0.982
18	45371855	C	G	18	47845484	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon9:c.G1046C:p.G349A;SMAD2:NM_005901:exon10:c.G1136C:p.G379A;SMAD2:NM_001003652:exon10:c.G1136C:p.G379A;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.G1046C:p.G349A;ENSG00000175387:ENST00000591214:exon9:c.G1046C:p.G349A;ENSG00000175387:ENST00000262160:exon10:c.G1136C:p.G379A;ENSG00000175387:ENST00000402690:exon10:c.G1136C:p.G379A;ENSG00000175387:ENST00000586040:exon8:c.G1046C:p.G349A;	0.999607459067703	0.984
18	45371855	C	T	18	47845484	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon9:c.G1046A:p.G349D;SMAD2:NM_005901:exon10:c.G1136A:p.G379D;SMAD2:NM_001003652:exon10:c.G1136A:p.G379D;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon9:c.G1046A:p.G349D;ENSG00000175387:ENST00000591214:exon9:c.G1046A:p.G349D;ENSG00000175387:ENST00000262160:exon10:c.G1136A:p.G379D;ENSG00000175387:ENST00000402690:exon10:c.G1136A:p.G379D;ENSG00000175387:ENST00000586040:exon8:c.G1046A:p.G349D;	0.999510214576065	0.902
18	45371856	C	A	18	47845485	y	y	splicing	SMAD2(NM_005901:exon11:c.1136-1G>T;NM_001135937:exon10:c.1046-1G>T;NM_001003652:exon11:c.1136-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon11:c.1136-1G>T;ENST00000262160:exon11:c.1136-1G>T;ENST00000356825:exon10:c.1046-1G>T;ENST00000586040:exon9:c.1046-1G>T;ENST00000591214:exon10:c.1046-1G>T)	.	.	0.999990361384395	0.938
18	45371856	C	G	18	47845485	y	y	splicing	SMAD2(NM_005901:exon11:c.1136-1G>C;NM_001135937:exon10:c.1046-1G>C;NM_001003652:exon11:c.1136-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon11:c.1136-1G>C;ENST00000262160:exon11:c.1136-1G>C;ENST00000356825:exon10:c.1046-1G>C;ENST00000586040:exon9:c.1046-1G>C;ENST00000591214:exon10:c.1046-1G>C)	.	.	0.999990361384395	0.938
18	45371856	C	T	18	47845485	y	y	splicing	SMAD2(NM_005901:exon11:c.1136-1G>A;NM_001135937:exon10:c.1046-1G>A;NM_001003652:exon11:c.1136-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon11:c.1136-1G>A;ENST00000262160:exon11:c.1136-1G>A;ENST00000356825:exon10:c.1046-1G>A;ENST00000586040:exon9:c.1046-1G>A;ENST00000591214:exon10:c.1046-1G>A)	.	.	0.999990361384395	0.938
18	45371857	T	A	18	47845486	y	y	splicing	SMAD2(NM_005901:exon11:c.1136-2A>T;NM_001135937:exon10:c.1046-2A>T;NM_001003652:exon11:c.1136-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon11:c.1136-2A>T;ENST00000262160:exon11:c.1136-2A>T;ENST00000356825:exon10:c.1046-2A>T;ENST00000586040:exon9:c.1046-2A>T;ENST00000591214:exon10:c.1046-2A>T)	.	.	0.999988247793601	0.928
18	45371857	T	C	18	47845486	y	y	splicing	SMAD2(NM_005901:exon11:c.1136-2A>G;NM_001135937:exon10:c.1046-2A>G;NM_001003652:exon11:c.1136-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon11:c.1136-2A>G;ENST00000262160:exon11:c.1136-2A>G;ENST00000356825:exon10:c.1046-2A>G;ENST00000586040:exon9:c.1046-2A>G;ENST00000591214:exon10:c.1046-2A>G)	.	.	0.999988247793601	0.928
18	45371857	T	G	18	47845486	y	y	splicing	SMAD2(NM_005901:exon11:c.1136-2A>C;NM_001135937:exon10:c.1046-2A>C;NM_001003652:exon11:c.1136-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon11:c.1136-2A>C;ENST00000262160:exon11:c.1136-2A>C;ENST00000356825:exon10:c.1046-2A>C;ENST00000586040:exon9:c.1046-2A>C;ENST00000591214:exon10:c.1046-2A>C)	.	.	0.999988247793601	0.928
18	45371858	A	C	18	47845487	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.993911506285321	0.656
18	45371858	A	G	18	47845487	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.9764586596094E-4	0.022
18	45371858	A	T	18	47845487	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.139322185824838	0.418
18	45371859	T	A	18	47845488	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.85078622571029E-5	0.006
18	45371859	T	C	18	47845488	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.64497250500173E-5	0.016
18	45371859	T	G	18	47845488	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.67611634458217E-5	0.072
18	45371860	G	A	18	47845489	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.29080880788299E-5	0.038
18	45371860	G	C	18	47845489	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.92544258102751E-4	0.136
18	45371860	G	T	18	47845489	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.50576366127907E-4	0.13
18	45371861	A	C	18	47845490	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.978424091871693	0.898
18	45371861	A	G	18	47845490	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.82506545934531E-6	0.0
18	45371861	A	T	18	47845490	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.92052877352844E-4	0.126
18	45371862	T	A	18	47845491	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.150671542096E-6	0.012
18	45371862	T	C	18	47845491	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.97046460408135	0.94
18	45371862	T	G	18	47845491	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.59366933918405E-6	0.018
18	45371863	T	A	18	47845492	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.24353149159902E-5	0.024
18	45371863	T	C	18	47845492	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.59517632838348E-5	0.012
18	45371863	T	G	18	47845492	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.89261591261013E-5	0.03
18	45371864	A	C	18	47845493	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.21937572079964E-4	0.096
18	45371864	A	G	18	47845493	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.40539576136307E-5	0.0
18	45371864	A	T	18	47845493	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.46353681440728E-4	0.084
18	45371865	A	C	18	47845494	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00918319999284802	0.356
18	45371865	A	G	18	47845494	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.84168448166084E-5	0.006
18	45371865	A	T	18	47845494	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00740313046504384	0.418
18	45371866	A	C	18	47845495	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.355546938246	0.456
18	45371866	A	G	18	47845495	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00697482836887901	0.16
18	45371866	A	T	18	47845495	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.346259557421574	0.458
18	45371867	A	C	18	47845496	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00336749776175428	0.28
18	45371867	A	G	18	47845496	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.28596538691713E-5	0.002
18	45371867	A	T	18	47845496	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00558081588274631	0.258
18	45372026	A	C	18	47845655	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.30427675844888E-5	0.002
18	45372026	A	G	18	47845655	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.13829272543344E-5	0.002
18	45372026	A	T	18	47845655	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.30427675844888E-5	0.0
18	45372027	T	A	18	47845656	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.89697336214703E-5	0.0
18	45372027	T	C	18	47845656	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.291525765764E-5	0.0
18	45372027	T	G	18	47845656	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.31577823240909E-5	0.0
18	45372028	C	A	18	47845657	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.26848964498332E-5	0.0
18	45372028	C	G	18	47845657	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.89494642668509E-5	0.002
18	45372028	C	T	18	47845657	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.09771348679458E-5	0.004
18	45372029	C	A	18	47845658	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.987135466583927	0.56
18	45372029	C	G	18	47845658	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.981545722138969	0.508
18	45372029	C	T	18	47845658	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.952987087858329	0.492
18	45372030	A	C	18	47845659	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.96277523409828E-4	0.032
18	45372030	A	G	18	47845659	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0078335178773827	0.036
18	45372030	A	T	18	47845659	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.62780312640285E-4	0.04
18	45372031	T	A	18	47845660	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999689418811978	0.936
18	45372031	T	C	18	47845660	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.981201501789131	0.806
18	45372031	T	G	18	47845660	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99963289075384	0.93
18	45372032	A	C	18	47845661	y	y	splicing	SMAD2(NM_005901:exon10:c.1135+2T>G;NM_001135937:exon9:c.1045+2T>G;NM_001003652:exon10:c.1135+2T>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.1135+2T>G;ENST00000262160:exon10:c.1135+2T>G;ENST00000356825:exon9:c.1045+2T>G;ENST00000586040:exon8:c.1045+2T>G;ENST00000591214:exon9:c.1045+2T>G)	.	.	0.999988247793601	0.93
18	45372032	A	G	18	47845661	y	y	splicing	SMAD2(NM_005901:exon10:c.1135+2T>C;NM_001135937:exon9:c.1045+2T>C;NM_001003652:exon10:c.1135+2T>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.1135+2T>C;ENST00000262160:exon10:c.1135+2T>C;ENST00000356825:exon9:c.1045+2T>C;ENST00000586040:exon8:c.1045+2T>C;ENST00000591214:exon9:c.1045+2T>C)	.	.	0.99340600729494	0.688
18	45372032	A	T	18	47845661	y	y	splicing	SMAD2(NM_005901:exon10:c.1135+2T>A;NM_001135937:exon9:c.1045+2T>A;NM_001003652:exon10:c.1135+2T>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.1135+2T>A;ENST00000262160:exon10:c.1135+2T>A;ENST00000356825:exon9:c.1045+2T>A;ENST00000586040:exon8:c.1045+2T>A;ENST00000591214:exon9:c.1045+2T>A)	.	.	0.999988247793601	0.93
18	45372033	C	A	18	47845662	y	y	splicing	SMAD2(NM_005901:exon10:c.1135+1G>T;NM_001135937:exon9:c.1045+1G>T;NM_001003652:exon10:c.1135+1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.1135+1G>T;ENST00000262160:exon10:c.1135+1G>T;ENST00000356825:exon9:c.1045+1G>T;ENST00000586040:exon8:c.1045+1G>T;ENST00000591214:exon9:c.1045+1G>T)	.	.	0.999990361384395	0.938
18	45372033	C	G	18	47845662	y	y	splicing	SMAD2(NM_005901:exon10:c.1135+1G>C;NM_001135937:exon9:c.1045+1G>C;NM_001003652:exon10:c.1135+1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.1135+1G>C;ENST00000262160:exon10:c.1135+1G>C;ENST00000356825:exon9:c.1045+1G>C;ENST00000586040:exon8:c.1045+1G>C;ENST00000591214:exon9:c.1045+1G>C)	.	.	0.999990361384395	0.938
18	45372033	C	T	18	47845662	y	y	splicing	SMAD2(NM_005901:exon10:c.1135+1G>A;NM_001135937:exon9:c.1045+1G>A;NM_001003652:exon10:c.1135+1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.1135+1G>A;ENST00000262160:exon10:c.1135+1G>A;ENST00000356825:exon9:c.1045+1G>A;ENST00000586040:exon8:c.1045+1G>A;ENST00000591214:exon9:c.1045+1G>A)	.	.	0.999990361384395	0.938
18	45372034	C	A	18	47845663	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.G1045T:p.G349C;SMAD2:NM_005901:exon9:c.G1135T:p.G379C;SMAD2:NM_001003652:exon9:c.G1135T:p.G379C;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.G1045T:p.G349C;ENSG00000175387:ENST00000591214:exon8:c.G1045T:p.G349C;ENSG00000175387:ENST00000262160:exon9:c.G1135T:p.G379C;ENSG00000175387:ENST00000402690:exon9:c.G1135T:p.G379C;ENSG00000175387:ENST00000586040:exon7:c.G1045T:p.G349C;	0.999950376379814	0.992
18	45372034	C	G	18	47845663	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.G1045C:p.G349R;SMAD2:NM_005901:exon9:c.G1135C:p.G379R;SMAD2:NM_001003652:exon9:c.G1135C:p.G379R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.G1045C:p.G349R;ENSG00000175387:ENST00000591214:exon8:c.G1045C:p.G349R;ENSG00000175387:ENST00000262160:exon9:c.G1135C:p.G379R;ENSG00000175387:ENST00000402690:exon9:c.G1135C:p.G379R;ENSG00000175387:ENST00000586040:exon7:c.G1045C:p.G349R;	0.999997179430237	0.996
18	45372034	C	T	18	47845663	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.G1045A:p.G349S;SMAD2:NM_005901:exon9:c.G1135A:p.G379S;SMAD2:NM_001003652:exon9:c.G1135A:p.G379S;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.G1045A:p.G349S;ENSG00000175387:ENST00000591214:exon8:c.G1045A:p.G349S;ENSG00000175387:ENST00000262160:exon9:c.G1135A:p.G379S;ENSG00000175387:ENST00000402690:exon9:c.G1135A:p.G379S;ENSG00000175387:ENST00000586040:exon7:c.G1045A:p.G349S;	0.999981696085948	1.0
18	45372035	T	A	18	47845664	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon8:c.A1044T:p.P348P;SMAD2:NM_005901:exon9:c.A1134T:p.P378P;SMAD2:NM_001003652:exon9:c.A1134T:p.P378P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.A1044T:p.P348P;ENSG00000175387:ENST00000591214:exon8:c.A1044T:p.P348P;ENSG00000175387:ENST00000262160:exon9:c.A1134T:p.P378P;ENSG00000175387:ENST00000402690:exon9:c.A1134T:p.P378P;ENSG00000175387:ENST00000586040:exon7:c.A1044T:p.P348P;	0.99800991466775	0.982
18	45372035	T	C	18	47845664	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon8:c.A1044G:p.P348P;SMAD2:NM_005901:exon9:c.A1134G:p.P378P;SMAD2:NM_001003652:exon9:c.A1134G:p.P378P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.A1044G:p.P348P;ENSG00000175387:ENST00000591214:exon8:c.A1044G:p.P348P;ENSG00000175387:ENST00000262160:exon9:c.A1134G:p.P378P;ENSG00000175387:ENST00000402690:exon9:c.A1134G:p.P378P;ENSG00000175387:ENST00000586040:exon7:c.A1044G:p.P348P;	0.99848553227692	0.982
18	45372035	T	G	18	47845664	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon8:c.A1044C:p.P348P;SMAD2:NM_005901:exon9:c.A1134C:p.P378P;SMAD2:NM_001003652:exon9:c.A1134C:p.P378P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.A1044C:p.P348P;ENSG00000175387:ENST00000591214:exon8:c.A1044C:p.P348P;ENSG00000175387:ENST00000262160:exon9:c.A1134C:p.P378P;ENSG00000175387:ENST00000402690:exon9:c.A1134C:p.P378P;ENSG00000175387:ENST00000586040:exon7:c.A1044C:p.P348P;	0.998095334609082	0.988
18	45372036	G	A	18	47845665	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.C1043T:p.P348L;SMAD2:NM_005901:exon9:c.C1133T:p.P378L;SMAD2:NM_001003652:exon9:c.C1133T:p.P378L;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.C1043T:p.P348L;ENSG00000175387:ENST00000591214:exon8:c.C1043T:p.P348L;ENSG00000175387:ENST00000262160:exon9:c.C1133T:p.P378L;ENSG00000175387:ENST00000402690:exon9:c.C1133T:p.P378L;ENSG00000175387:ENST00000586040:exon7:c.C1043T:p.P348L;	0.998732928382471	0.926
18	45372036	G	C	18	47845665	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.C1043G:p.P348R;SMAD2:NM_005901:exon9:c.C1133G:p.P378R;SMAD2:NM_001003652:exon9:c.C1133G:p.P378R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.C1043G:p.P348R;ENSG00000175387:ENST00000591214:exon8:c.C1043G:p.P348R;ENSG00000175387:ENST00000262160:exon9:c.C1133G:p.P378R;ENSG00000175387:ENST00000402690:exon9:c.C1133G:p.P378R;ENSG00000175387:ENST00000586040:exon7:c.C1043G:p.P348R;	0.91180820127202	0.662
18	45372036	G	T	18	47845665	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.C1043A:p.P348Q;SMAD2:NM_005901:exon9:c.C1133A:p.P378Q;SMAD2:NM_001003652:exon9:c.C1133A:p.P378Q;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.C1043A:p.P348Q;ENSG00000175387:ENST00000591214:exon8:c.C1043A:p.P348Q;ENSG00000175387:ENST00000262160:exon9:c.C1133A:p.P378Q;ENSG00000175387:ENST00000402690:exon9:c.C1133A:p.P378Q;ENSG00000175387:ENST00000586040:exon7:c.C1043A:p.P348Q;	0.960429967619721	0.824
18	45372170	T	A	18	47845799	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon8:c.A909T:p.G303G;SMAD2:NM_005901:exon9:c.A999T:p.G333G;SMAD2:NM_001003652:exon9:c.A999T:p.G333G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.A909T:p.G303G;ENSG00000175387:ENST00000591214:exon8:c.A909T:p.G303G;ENSG00000175387:ENST00000262160:exon9:c.A999T:p.G333G;ENSG00000175387:ENST00000402690:exon9:c.A999T:p.G333G;ENSG00000175387:ENST00000586040:exon7:c.A909T:p.G303G;	2.42638522368468E-4	0.0
18	45372170	T	C	18	47845799	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon8:c.A909G:p.G303G;SMAD2:NM_005901:exon9:c.A999G:p.G333G;SMAD2:NM_001003652:exon9:c.A999G:p.G333G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.A909G:p.G303G;ENSG00000175387:ENST00000591214:exon8:c.A909G:p.G303G;ENSG00000175387:ENST00000262160:exon9:c.A999G:p.G333G;ENSG00000175387:ENST00000402690:exon9:c.A999G:p.G333G;ENSG00000175387:ENST00000586040:exon7:c.A909G:p.G303G;	0.00102373090842363	0.024
18	45372170	T	G	18	47845799	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon8:c.A909C:p.G303G;SMAD2:NM_005901:exon9:c.A999C:p.G333G;SMAD2:NM_001003652:exon9:c.A999C:p.G333G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.A909C:p.G303G;ENSG00000175387:ENST00000591214:exon8:c.A909C:p.G303G;ENSG00000175387:ENST00000262160:exon9:c.A999C:p.G333G;ENSG00000175387:ENST00000402690:exon9:c.A999C:p.G333G;ENSG00000175387:ENST00000586040:exon7:c.A909C:p.G303G;	0.00473803752888945	0.066
18	45372171	C	A	18	47845800	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.G908T:p.G303V;SMAD2:NM_005901:exon9:c.G998T:p.G333V;SMAD2:NM_001003652:exon9:c.G998T:p.G333V;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.G908T:p.G303V;ENSG00000175387:ENST00000591214:exon8:c.G908T:p.G303V;ENSG00000175387:ENST00000262160:exon9:c.G998T:p.G333V;ENSG00000175387:ENST00000402690:exon9:c.G998T:p.G333V;ENSG00000175387:ENST00000586040:exon7:c.G908T:p.G303V;	0.99970623257157	0.948
18	45372171	C	G	18	47845800	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.G908C:p.G303A;SMAD2:NM_005901:exon9:c.G998C:p.G333A;SMAD2:NM_001003652:exon9:c.G998C:p.G333A;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.G908C:p.G303A;ENSG00000175387:ENST00000591214:exon8:c.G908C:p.G303A;ENSG00000175387:ENST00000262160:exon9:c.G998C:p.G333A;ENSG00000175387:ENST00000402690:exon9:c.G998C:p.G333A;ENSG00000175387:ENST00000586040:exon7:c.G908C:p.G303A;	0.999726872943169	0.93
18	45372171	C	T	18	47845800	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon8:c.G908A:p.G303E;SMAD2:NM_005901:exon9:c.G998A:p.G333E;SMAD2:NM_001003652:exon9:c.G998A:p.G333E;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon8:c.G908A:p.G303E;ENSG00000175387:ENST00000591214:exon8:c.G908A:p.G303E;ENSG00000175387:ENST00000262160:exon9:c.G998A:p.G333E;ENSG00000175387:ENST00000402690:exon9:c.G998A:p.G333E;ENSG00000175387:ENST00000586040:exon7:c.G908A:p.G303E;	0.997827842587746	0.902
18	45372172	C	A	18	47845801	y	y	splicing	SMAD2(NM_005901:exon10:c.998-1G>T;NM_001135937:exon9:c.908-1G>T;NM_001003652:exon10:c.998-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.998-1G>T;ENST00000262160:exon10:c.998-1G>T;ENST00000356825:exon9:c.908-1G>T;ENST00000586040:exon8:c.908-1G>T;ENST00000591214:exon9:c.908-1G>T)	.	.	0.999990361384395	0.938
18	45372172	C	G	18	47845801	y	y	splicing	SMAD2(NM_005901:exon10:c.998-1G>C;NM_001135937:exon9:c.908-1G>C;NM_001003652:exon10:c.998-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.998-1G>C;ENST00000262160:exon10:c.998-1G>C;ENST00000356825:exon9:c.908-1G>C;ENST00000586040:exon8:c.908-1G>C;ENST00000591214:exon9:c.908-1G>C)	.	.	0.999990361384395	0.938
18	45372172	C	T	18	47845801	y	y	splicing	SMAD2(NM_005901:exon10:c.998-1G>A;NM_001135937:exon9:c.908-1G>A;NM_001003652:exon10:c.998-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.998-1G>A;ENST00000262160:exon10:c.998-1G>A;ENST00000356825:exon9:c.908-1G>A;ENST00000586040:exon8:c.908-1G>A;ENST00000591214:exon9:c.908-1G>A)	.	.	0.999990361384395	0.938
18	45372173	T	A	18	47845802	y	y	splicing	SMAD2(NM_005901:exon10:c.998-2A>T;NM_001135937:exon9:c.908-2A>T;NM_001003652:exon10:c.998-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.998-2A>T;ENST00000262160:exon10:c.998-2A>T;ENST00000356825:exon9:c.908-2A>T;ENST00000586040:exon8:c.908-2A>T;ENST00000591214:exon9:c.908-2A>T)	.	.	0.999988247793601	0.93
18	45372173	T	C	18	47845802	y	y	splicing	SMAD2(NM_005901:exon10:c.998-2A>G;NM_001135937:exon9:c.908-2A>G;NM_001003652:exon10:c.998-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.998-2A>G;ENST00000262160:exon10:c.998-2A>G;ENST00000356825:exon9:c.908-2A>G;ENST00000586040:exon8:c.908-2A>G;ENST00000591214:exon9:c.908-2A>G)	.	.	0.999988247793601	0.93
18	45372173	T	G	18	47845802	y	y	splicing	SMAD2(NM_005901:exon10:c.998-2A>C;NM_001135937:exon9:c.908-2A>C;NM_001003652:exon10:c.998-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon10:c.998-2A>C;ENST00000262160:exon10:c.998-2A>C;ENST00000356825:exon9:c.908-2A>C;ENST00000586040:exon8:c.908-2A>C;ENST00000591214:exon9:c.908-2A>C)	.	.	0.999988247793601	0.93
18	45372174	G	A	18	47845803	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.6533990715754E-4	0.02
18	45372174	G	C	18	47845803	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.994515628360014	0.83
18	45372174	G	T	18	47845803	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.367224832667849	0.504
18	45372175	A	C	18	47845804	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.79724738524391E-5	0.01
18	45372175	A	G	18	47845804	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.1278755622706E-5	0.002
18	45372175	A	T	18	47845804	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.82848202490872E-5	0.002
18	45372176	A	C	18	47845805	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.81201829385553	0.512
18	45372176	A	G	18	47845805	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.077043610911076	0.282
18	45372176	A	T	18	47845805	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.548998200328515	0.46
18	45372177	A	C	18	47845806	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.533907721528298	0.53
18	45372177	A	G	18	47845806	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00418786403411399	0.134
18	45372177	A	T	18	47845806	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.548660090598617	0.514
18	45372178	C	A	18	47845807	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.69223387292002E-6	0.0
18	45372178	C	G	18	47845807	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.14146540862719E-6	0.0
18	45372178	C	T	18	47845807	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.71527124794328E-5	0.014
18	45372179	A	C	18	47845808	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00107030416518299	0.212
18	45372179	A	G	18	47845808	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.16194460326077E-4	0.0
18	45372179	A	T	18	47845808	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998882219057114	0.978
18	45372180	A	C	18	47845809	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0139494905589515	0.368
18	45372180	A	G	18	47845809	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.79041644105284E-4	0.058
18	45372180	A	T	18	47845809	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0492712275947396	0.35
18	45372181	A	C	18	47845810	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0672772994440617	0.44
18	45372181	A	G	18	47845810	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.98295628132243E-4	0.018
18	45372181	A	T	18	47845810	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0705806919808963	0.508
18	45372182	A	C	18	47845811	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99885596822467	0.938
18	45372182	A	G	18	47845811	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.02901695765392E-4	0.062
18	45372182	A	T	18	47845811	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0769765398597439	0.378
18	45372183	T	A	18	47845812	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.56227402875007E-5	0.0
18	45372183	T	C	18	47845812	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.38690839796805E-5	0.006
18	45372183	T	G	18	47845812	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.22963649052722E-5	0.002
18	45374838	A	C	18	47848467	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.36191416255232E-5	0.002
18	45374838	A	G	18	47848467	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.2591670920413E-4	0.002
18	45374838	A	T	18	47848467	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.00370153794381E-4	0.002
18	45374839	A	C	18	47848468	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.84724630483522E-4	0.016
18	45374839	A	G	18	47848468	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.49930214934197E-4	0.016
18	45374839	A	T	18	47848468	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.49930214934197E-4	0.012
18	45374840	A	C	18	47848469	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00348816581018005	0.172
18	45374840	A	G	18	47848469	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0165708914267005	0.208
18	45374840	A	T	18	47848469	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0136459552443656	0.172
18	45374841	C	A	18	47848470	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.9947854025182	0.776
18	45374841	C	G	18	47848470	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999987099859737	0.918
18	45374841	C	T	18	47848470	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999578889132678	0.874
18	45374842	A	C	18	47848471	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.96050471787303E-5	0.006
18	45374842	A	G	18	47848471	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.70783053861812E-4	0.01
18	45374842	A	T	18	47848471	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.8712021925582E-4	0.048
18	45374843	T	A	18	47848472	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99979883512802	0.974
18	45374843	T	C	18	47848472	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999594202688614	0.946
18	45374843	T	G	18	47848472	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999231450166849	0.938
18	45374844	A	C	18	47848473	y	y	splicing	SMAD2(NM_005901:exon9:c.997+2T>G;NM_001135937:exon8:c.907+2T>G;NM_001003652:exon9:c.997+2T>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.997+2T>G;ENST00000262160:exon9:c.997+2T>G;ENST00000356825:exon8:c.907+2T>G;ENST00000586040:exon7:c.907+2T>G;ENST00000591214:exon8:c.907+2T>G)	.	.	0.999988247793601	0.932
18	45374844	A	G	18	47848473	y	y	splicing	SMAD2(NM_005901:exon9:c.997+2T>C;NM_001135937:exon8:c.907+2T>C;NM_001003652:exon9:c.997+2T>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.997+2T>C;ENST00000262160:exon9:c.997+2T>C;ENST00000356825:exon8:c.907+2T>C;ENST00000586040:exon7:c.907+2T>C;ENST00000591214:exon8:c.907+2T>C)	.	.	0.994669226766359	0.704
18	45374844	A	T	18	47848473	y	y	splicing	SMAD2(NM_005901:exon9:c.997+2T>A;NM_001135937:exon8:c.907+2T>A;NM_001003652:exon9:c.997+2T>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.997+2T>A;ENST00000262160:exon9:c.997+2T>A;ENST00000356825:exon8:c.907+2T>A;ENST00000586040:exon7:c.907+2T>A;ENST00000591214:exon8:c.907+2T>A)	.	.	0.999988247793601	0.932
18	45374845	C	A	18	47848474	y	y	splicing	SMAD2(NM_005901:exon9:c.997+1G>T;NM_001135937:exon8:c.907+1G>T;NM_001003652:exon9:c.997+1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.997+1G>T;ENST00000262160:exon9:c.997+1G>T;ENST00000356825:exon8:c.907+1G>T;ENST00000586040:exon7:c.907+1G>T;ENST00000591214:exon8:c.907+1G>T)	.	.	0.999989072007339	0.934
18	45374845	C	G	18	47848474	y	y	splicing	SMAD2(NM_005901:exon9:c.997+1G>C;NM_001135937:exon8:c.907+1G>C;NM_001003652:exon9:c.997+1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.997+1G>C;ENST00000262160:exon9:c.997+1G>C;ENST00000356825:exon8:c.907+1G>C;ENST00000586040:exon7:c.907+1G>C;ENST00000591214:exon8:c.907+1G>C)	.	.	0.999989072007339	0.934
18	45374845	C	T	18	47848474	y	y	splicing	SMAD2(NM_005901:exon9:c.997+1G>A;NM_001135937:exon8:c.907+1G>A;NM_001003652:exon9:c.997+1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.997+1G>A;ENST00000262160:exon9:c.997+1G>A;ENST00000356825:exon8:c.907+1G>A;ENST00000586040:exon7:c.907+1G>A;ENST00000591214:exon8:c.907+1G>A)	.	.	0.999989072007339	0.934
18	45374846	C	A	18	47848475	y	y	exonic	SMAD2	stopgain SNV	SMAD2:NM_001135937:exon7:c.G907T:p.G303X;SMAD2:NM_005901:exon8:c.G997T:p.G333X;SMAD2:NM_001003652:exon8:c.G997T:p.G333X;	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000356825:exon7:c.G907T:p.G303X;ENSG00000175387:ENST00000591214:exon7:c.G907T:p.G303X;ENSG00000175387:ENST00000262160:exon8:c.G997T:p.G333X;ENSG00000175387:ENST00000402690:exon8:c.G997T:p.G333X;ENSG00000175387:ENST00000586040:exon6:c.G907T:p.G303X;	0.999969346681705	0.994
18	45374846	C	G	18	47848475	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.G907C:p.G303R;SMAD2:NM_005901:exon8:c.G997C:p.G333R;SMAD2:NM_001003652:exon8:c.G997C:p.G333R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.G907C:p.G303R;ENSG00000175387:ENST00000591214:exon7:c.G907C:p.G303R;ENSG00000175387:ENST00000262160:exon8:c.G997C:p.G333R;ENSG00000175387:ENST00000402690:exon8:c.G997C:p.G333R;ENSG00000175387:ENST00000586040:exon6:c.G907C:p.G303R;	0.999992135389756	0.992
18	45374846	C	T	18	47848475	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.G907A:p.G303R;SMAD2:NM_005901:exon8:c.G997A:p.G333R;SMAD2:NM_001003652:exon8:c.G997A:p.G333R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.G907A:p.G303R;ENSG00000175387:ENST00000591214:exon7:c.G907A:p.G303R;ENSG00000175387:ENST00000262160:exon8:c.G997A:p.G333R;ENSG00000175387:ENST00000402690:exon8:c.G997A:p.G333R;ENSG00000175387:ENST00000586040:exon6:c.G907A:p.G303R;	0.999988421950818	0.998
18	45374847	T	A	18	47848476	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon7:c.A906T:p.I302I;SMAD2:NM_005901:exon8:c.A996T:p.I332I;SMAD2:NM_001003652:exon8:c.A996T:p.I332I;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.A906T:p.I302I;ENSG00000175387:ENST00000591214:exon7:c.A906T:p.I302I;ENSG00000175387:ENST00000262160:exon8:c.A996T:p.I332I;ENSG00000175387:ENST00000402690:exon8:c.A996T:p.I332I;ENSG00000175387:ENST00000586040:exon6:c.A906T:p.I302I;	0.995287843076957	0.924
18	45374847	T	C	18	47848476	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.A906G:p.I302M;SMAD2:NM_005901:exon8:c.A996G:p.I332M;SMAD2:NM_001003652:exon8:c.A996G:p.I332M;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.A906G:p.I302M;ENSG00000175387:ENST00000591214:exon7:c.A906G:p.I302M;ENSG00000175387:ENST00000262160:exon8:c.A996G:p.I332M;ENSG00000175387:ENST00000402690:exon8:c.A996G:p.I332M;ENSG00000175387:ENST00000586040:exon6:c.A906G:p.I302M;	0.996907451924043	0.96
18	45374847	T	G	18	47848476	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon7:c.A906C:p.I302I;SMAD2:NM_005901:exon8:c.A996C:p.I332I;SMAD2:NM_001003652:exon8:c.A996C:p.I332I;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.A906C:p.I302I;ENSG00000175387:ENST00000591214:exon7:c.A906C:p.I302I;ENSG00000175387:ENST00000262160:exon8:c.A996C:p.I332I;ENSG00000175387:ENST00000402690:exon8:c.A996C:p.I332I;ENSG00000175387:ENST00000586040:exon6:c.A906C:p.I302I;	0.981256574814804	0.842
18	45374848	A	C	18	47848477	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.T905G:p.I302R;SMAD2:NM_005901:exon8:c.T995G:p.I332R;SMAD2:NM_001003652:exon8:c.T995G:p.I332R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.T905G:p.I302R;ENSG00000175387:ENST00000591214:exon7:c.T905G:p.I302R;ENSG00000175387:ENST00000262160:exon8:c.T995G:p.I332R;ENSG00000175387:ENST00000402690:exon8:c.T995G:p.I332R;ENSG00000175387:ENST00000586040:exon6:c.T905G:p.I302R;	0.830055402247459	0.712
18	45374848	A	G	18	47848477	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.T905C:p.I302T;SMAD2:NM_005901:exon8:c.T995C:p.I332T;SMAD2:NM_001003652:exon8:c.T995C:p.I332T;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.T905C:p.I302T;ENSG00000175387:ENST00000591214:exon7:c.T905C:p.I302T;ENSG00000175387:ENST00000262160:exon8:c.T995C:p.I332T;ENSG00000175387:ENST00000402690:exon8:c.T995C:p.I332T;ENSG00000175387:ENST00000586040:exon6:c.T905C:p.I302T;	0.755207235815968	0.634
18	45374848	A	T	18	47848477	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.T905A:p.I302K;SMAD2:NM_005901:exon8:c.T995A:p.I332K;SMAD2:NM_001003652:exon8:c.T995A:p.I332K;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.T905A:p.I302K;ENSG00000175387:ENST00000591214:exon7:c.T905A:p.I302K;ENSG00000175387:ENST00000262160:exon8:c.T995A:p.I332K;ENSG00000175387:ENST00000402690:exon8:c.T995A:p.I332K;ENSG00000175387:ENST00000586040:exon6:c.T905A:p.I302K;	0.755207235815968	0.682
18	45375057	A	C	18	47848686	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.T696G:p.D232E;SMAD2:NM_005901:exon8:c.T786G:p.D262E;SMAD2:NM_001003652:exon8:c.T786G:p.D262E;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.T696G:p.D232E;ENSG00000175387:ENST00000591214:exon7:c.T696G:p.D232E;ENSG00000175387:ENST00000262160:exon8:c.T786G:p.D262E;ENSG00000175387:ENST00000402690:exon8:c.T786G:p.D262E;ENSG00000175387:ENST00000586040:exon6:c.T696G:p.D232E;	5.59333358579583E-5	0.092
18	45375057	A	G	18	47848686	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon7:c.T696C:p.D232D;SMAD2:NM_005901:exon8:c.T786C:p.D262D;SMAD2:NM_001003652:exon8:c.T786C:p.D262D;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.T696C:p.D232D;ENSG00000175387:ENST00000591214:exon7:c.T696C:p.D232D;ENSG00000175387:ENST00000262160:exon8:c.T786C:p.D262D;ENSG00000175387:ENST00000402690:exon8:c.T786C:p.D262D;ENSG00000175387:ENST00000586040:exon6:c.T696C:p.D232D;	2.29232035252949E-4	0.02
18	45375057	A	T	18	47848686	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.T696A:p.D232E;SMAD2:NM_005901:exon8:c.T786A:p.D262E;SMAD2:NM_001003652:exon8:c.T786A:p.D262E;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.T696A:p.D232E;ENSG00000175387:ENST00000591214:exon7:c.T696A:p.D232E;ENSG00000175387:ENST00000262160:exon8:c.T786A:p.D262E;ENSG00000175387:ENST00000402690:exon8:c.T786A:p.D262E;ENSG00000175387:ENST00000586040:exon6:c.T696A:p.D232E;	1.10679668030293E-4	0.078
18	45375058	T	A	18	47848687	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.A695T:p.D232V;SMAD2:NM_005901:exon8:c.A785T:p.D262V;SMAD2:NM_001003652:exon8:c.A785T:p.D262V;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.A695T:p.D232V;ENSG00000175387:ENST00000591214:exon7:c.A695T:p.D232V;ENSG00000175387:ENST00000262160:exon8:c.A785T:p.D262V;ENSG00000175387:ENST00000402690:exon8:c.A785T:p.D262V;ENSG00000175387:ENST00000586040:exon6:c.A695T:p.D232V;	0.517190622115847	0.482
18	45375058	T	C	18	47848687	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.A695G:p.D232G;SMAD2:NM_005901:exon8:c.A785G:p.D262G;SMAD2:NM_001003652:exon8:c.A785G:p.D262G;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.A695G:p.D232G;ENSG00000175387:ENST00000591214:exon7:c.A695G:p.D232G;ENSG00000175387:ENST00000262160:exon8:c.A785G:p.D262G;ENSG00000175387:ENST00000402690:exon8:c.A785G:p.D262G;ENSG00000175387:ENST00000586040:exon6:c.A695G:p.D232G;	0.70151413247737	0.52
18	45375058	T	G	18	47848687	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon7:c.A695C:p.D232A;SMAD2:NM_005901:exon8:c.A785C:p.D262A;SMAD2:NM_001003652:exon8:c.A785C:p.D262A;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon7:c.A695C:p.D232A;ENSG00000175387:ENST00000591214:exon7:c.A695C:p.D232A;ENSG00000175387:ENST00000262160:exon8:c.A785C:p.D262A;ENSG00000175387:ENST00000402690:exon8:c.A785C:p.D262A;ENSG00000175387:ENST00000586040:exon6:c.A695C:p.D232A;	0.504313960694077	0.536
18	45375059	C	A	18	47848688	y	y	splicing	SMAD2(NM_005901:exon9:c.785-1G>T;NM_001135937:exon8:c.695-1G>T;NM_001003652:exon9:c.785-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.785-1G>T;ENST00000262160:exon9:c.785-1G>T;ENST00000356825:exon8:c.695-1G>T;ENST00000586040:exon7:c.695-1G>T;ENST00000591214:exon8:c.695-1G>T)	.	.	0.999989072007339	0.934
18	45375059	C	G	18	47848688	y	y	splicing	SMAD2(NM_005901:exon9:c.785-1G>C;NM_001135937:exon8:c.695-1G>C;NM_001003652:exon9:c.785-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.785-1G>C;ENST00000262160:exon9:c.785-1G>C;ENST00000356825:exon8:c.695-1G>C;ENST00000586040:exon7:c.695-1G>C;ENST00000591214:exon8:c.695-1G>C)	.	.	0.999989072007339	0.934
18	45375059	C	T	18	47848688	y	y	splicing	SMAD2(NM_005901:exon9:c.785-1G>A;NM_001135937:exon8:c.695-1G>A;NM_001003652:exon9:c.785-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.785-1G>A;ENST00000262160:exon9:c.785-1G>A;ENST00000356825:exon8:c.695-1G>A;ENST00000586040:exon7:c.695-1G>A;ENST00000591214:exon8:c.695-1G>A)	.	.	0.999989072007339	0.934
18	45375060	T	A	18	47848689	y	y	splicing	SMAD2(NM_005901:exon9:c.785-2A>T;NM_001135937:exon8:c.695-2A>T;NM_001003652:exon9:c.785-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.785-2A>T;ENST00000262160:exon9:c.785-2A>T;ENST00000356825:exon8:c.695-2A>T;ENST00000586040:exon7:c.695-2A>T;ENST00000591214:exon8:c.695-2A>T)	.	.	0.999981808176352	0.922
18	45375060	T	C	18	47848689	y	y	splicing	SMAD2(NM_005901:exon9:c.785-2A>G;NM_001135937:exon8:c.695-2A>G;NM_001003652:exon9:c.785-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.785-2A>G;ENST00000262160:exon9:c.785-2A>G;ENST00000356825:exon8:c.695-2A>G;ENST00000586040:exon7:c.695-2A>G;ENST00000591214:exon8:c.695-2A>G)	.	.	0.999981808176352	0.922
18	45375060	T	G	18	47848689	y	y	splicing	SMAD2(NM_005901:exon9:c.785-2A>C;NM_001135937:exon8:c.695-2A>C;NM_001003652:exon9:c.785-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon9:c.785-2A>C;ENST00000262160:exon9:c.785-2A>C;ENST00000356825:exon8:c.695-2A>C;ENST00000586040:exon7:c.695-2A>C;ENST00000591214:exon8:c.695-2A>C)	.	.	0.999981808176352	0.922
18	45375061	G	A	18	47848690	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00287120397390711	0.178
18	45375061	G	C	18	47848690	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.976633559667475	0.776
18	45375061	G	T	18	47848690	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0694760539088695	0.278
18	45375062	A	C	18	47848691	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.79027679378801E-5	0.0
18	45375062	A	G	18	47848691	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.94866089310437E-6	0.006
18	45375062	A	T	18	47848691	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.33879062199993E-5	0.0
18	45375063	A	C	18	47848692	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.15752351290399E-4	0.132
18	45375063	A	G	18	47848692	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.65174020545462E-5	0.0
18	45375063	A	T	18	47848692	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.59270573638002E-4	0.128
18	45375064	A	C	18	47848693	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.49032348390129E-4	0.108
18	45375064	A	G	18	47848693	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.0395986550344E-5	0.012
18	45375064	A	T	18	47848693	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.08359678291625E-4	0.092
18	45375065	A	C	18	47848694	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.1930827522251E-4	0.016
18	45375065	A	G	18	47848694	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.49099996914444E-5	0.0
18	45375065	A	T	18	47848694	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.55340314493088E-5	0.018
18	45375066	A	C	18	47848695	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.39269865654324E-5	0.01
18	45375066	A	G	18	47848695	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.70774995647175E-6	0.004
18	45375066	A	T	18	47848695	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.58484937869256E-5	0.01
18	45375067	G	A	18	47848696	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.56479678541575E-5	0.02
18	45375067	G	C	18	47848696	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.5645738746041E-4	0.004
18	45375067	G	T	18	47848696	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.5645738746041E-4	0.01
18	45375068	A	C	18	47848697	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.93999576147812E-4	0.084
18	45375068	A	G	18	47848697	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.43115638818697E-4	0.016
18	45375068	A	T	18	47848697	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.21380148966247E-4	0.102
18	45375069	A	C	18	47848698	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.56751506992238E-4	0.106
18	45375069	A	G	18	47848698	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.6259532165727E-5	0.01
18	45375069	A	T	18	47848698	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.91413876257106E-4	0.056
18	45375070	A	C	18	47848699	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.26593479261859E-4	0.072
18	45375070	A	G	18	47848699	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.51881087018132E-4	0.008
18	45375070	A	T	18	47848699	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.23398732259886E-4	0.104
18	45377637	C	A	18	47851266	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.2075898937524E-4	0.0
18	45377637	C	G	18	47851266	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.1624108508069E-4	0.0
18	45377637	C	T	18	47851266	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.29248177322062E-4	0.0
18	45377638	A	C	18	47851267	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.40793115468286E-4	0.02
18	45377638	A	G	18	47851267	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.06564986655653E-4	0.016
18	45377638	A	T	18	47851267	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.3660413354931E-4	0.034
18	45377639	A	C	18	47851268	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.146811585224871	0.348
18	45377639	A	G	18	47851268	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.12467030884767	0.446
18	45377639	A	T	18	47851268	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.35700638355159	0.47
18	45377640	C	A	18	47851269	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999808490796799	0.87
18	45377640	C	G	18	47851269	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999666559051804	0.976
18	45377640	C	T	18	47851269	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999861680376857	0.95
18	45377641	T	A	18	47851270	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998541185832217	0.9
18	45377641	T	C	18	47851270	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998428784037961	0.934
18	45377641	T	G	18	47851270	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99854590636734	0.91
18	45377642	T	A	18	47851271	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99543448630434	0.846
18	45377642	T	C	18	47851271	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0366142056635061	0.246
18	45377642	T	G	18	47851271	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.973206411259151	0.788
18	45377643	A	C	18	47851272	y	y	splicing	SMAD2(NM_005901:exon8:c.784+2T>G;NM_001135937:exon7:c.694+2T>G;NM_001003652:exon8:c.784+2T>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.784+2T>G;ENST00000262160:exon8:c.784+2T>G;ENST00000356825:exon7:c.694+2T>G;ENST00000586040:exon6:c.694+2T>G;ENST00000591214:exon7:c.694+2T>G)	.	.	0.999988247793601	0.93
18	45377643	A	G	18	47851272	y	y	splicing	SMAD2(NM_005901:exon8:c.784+2T>C;NM_001135937:exon7:c.694+2T>C;NM_001003652:exon8:c.784+2T>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.784+2T>C;ENST00000262160:exon8:c.784+2T>C;ENST00000356825:exon7:c.694+2T>C;ENST00000586040:exon6:c.694+2T>C;ENST00000591214:exon7:c.694+2T>C)	.	.	0.996388929962285	0.712
18	45377643	A	T	18	47851272	y	y	splicing	SMAD2(NM_005901:exon8:c.784+2T>A;NM_001135937:exon7:c.694+2T>A;NM_001003652:exon8:c.784+2T>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.784+2T>A;ENST00000262160:exon8:c.784+2T>A;ENST00000356825:exon7:c.694+2T>A;ENST00000586040:exon6:c.694+2T>A;ENST00000591214:exon7:c.694+2T>A)	.	.	0.999988247793601	0.93
18	45377644	C	A	18	47851273	y	y	splicing	SMAD2(NM_005901:exon8:c.784+1G>T;NM_001135937:exon7:c.694+1G>T;NM_001003652:exon8:c.784+1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.784+1G>T;ENST00000262160:exon8:c.784+1G>T;ENST00000356825:exon7:c.694+1G>T;ENST00000586040:exon6:c.694+1G>T;ENST00000591214:exon7:c.694+1G>T)	.	.	0.999987124402133	0.938
18	45377644	C	G	18	47851273	y	y	splicing	SMAD2(NM_005901:exon8:c.784+1G>C;NM_001135937:exon7:c.694+1G>C;NM_001003652:exon8:c.784+1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.784+1G>C;ENST00000262160:exon8:c.784+1G>C;ENST00000356825:exon7:c.694+1G>C;ENST00000586040:exon6:c.694+1G>C;ENST00000591214:exon7:c.694+1G>C)	.	.	0.999987124402133	0.938
18	45377644	C	T	18	47851273	y	y	splicing	SMAD2(NM_005901:exon8:c.784+1G>A;NM_001135937:exon7:c.694+1G>A;NM_001003652:exon8:c.784+1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.784+1G>A;ENST00000262160:exon8:c.784+1G>A;ENST00000356825:exon7:c.694+1G>A;ENST00000586040:exon6:c.694+1G>A;ENST00000591214:exon7:c.694+1G>A)	.	.	0.999987124402133	0.938
18	45377645	C	A	18	47851274	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.G694T:p.D232Y;SMAD2:NM_005901:exon7:c.G784T:p.D262Y;SMAD2:NM_001003652:exon7:c.G784T:p.D262Y;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G694T:p.D232Y;ENSG00000175387:ENST00000591214:exon6:c.G694T:p.D232Y;ENSG00000175387:ENST00000262160:exon7:c.G784T:p.D262Y;ENSG00000175387:ENST00000402690:exon7:c.G784T:p.D262Y;ENSG00000175387:ENST00000586040:exon5:c.G694T:p.D232Y;	0.999940565645893	0.912
18	45377645	C	G	18	47851274	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.G694C:p.D232H;SMAD2:NM_005901:exon7:c.G784C:p.D262H;SMAD2:NM_001003652:exon7:c.G784C:p.D262H;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G694C:p.D232H;ENSG00000175387:ENST00000591214:exon6:c.G694C:p.D232H;ENSG00000175387:ENST00000262160:exon7:c.G784C:p.D262H;ENSG00000175387:ENST00000402690:exon7:c.G784C:p.D262H;ENSG00000175387:ENST00000586040:exon5:c.G694C:p.D232H;	0.999962984536369	0.97
18	45377645	C	T	18	47851274	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.G694A:p.D232N;SMAD2:NM_005901:exon7:c.G784A:p.D262N;SMAD2:NM_001003652:exon7:c.G784A:p.D262N;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G694A:p.D232N;ENSG00000175387:ENST00000591214:exon6:c.G694A:p.D232N;ENSG00000175387:ENST00000262160:exon7:c.G784A:p.D262N;ENSG00000175387:ENST00000402690:exon7:c.G784A:p.D262N;ENSG00000175387:ENST00000586040:exon5:c.G694A:p.D232N;	0.999958181352131	0.976
18	45377646	C	A	18	47851275	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.G693T:p.L231F;SMAD2:NM_005901:exon7:c.G783T:p.L261F;SMAD2:NM_001003652:exon7:c.G783T:p.L261F;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G693T:p.L231F;ENSG00000175387:ENST00000591214:exon6:c.G693T:p.L231F;ENSG00000175387:ENST00000262160:exon7:c.G783T:p.L261F;ENSG00000175387:ENST00000402690:exon7:c.G783T:p.L261F;ENSG00000175387:ENST00000586040:exon5:c.G693T:p.L231F;	0.248175396275812	0.32
18	45377646	C	G	18	47851275	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.G693C:p.L231F;SMAD2:NM_005901:exon7:c.G783C:p.L261F;SMAD2:NM_001003652:exon7:c.G783C:p.L261F;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G693C:p.L231F;ENSG00000175387:ENST00000591214:exon6:c.G693C:p.L231F;ENSG00000175387:ENST00000262160:exon7:c.G783C:p.L261F;ENSG00000175387:ENST00000402690:exon7:c.G783C:p.L261F;ENSG00000175387:ENST00000586040:exon5:c.G693C:p.L231F;	0.324382904949094	0.364
18	45377646	C	T	18	47851275	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon6:c.G693A:p.L231L;SMAD2:NM_005901:exon7:c.G783A:p.L261L;SMAD2:NM_001003652:exon7:c.G783A:p.L261L;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G693A:p.L231L;ENSG00000175387:ENST00000591214:exon6:c.G693A:p.L231L;ENSG00000175387:ENST00000262160:exon7:c.G783A:p.L261L;ENSG00000175387:ENST00000402690:exon7:c.G783A:p.L261L;ENSG00000175387:ENST00000586040:exon5:c.G693A:p.L231L;	0.00422375538069481	0.082
18	45377647	A	C	18	47851276	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.T692G:p.L231W;SMAD2:NM_005901:exon7:c.T782G:p.L261W;SMAD2:NM_001003652:exon7:c.T782G:p.L261W;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.T692G:p.L231W;ENSG00000175387:ENST00000591214:exon6:c.T692G:p.L231W;ENSG00000175387:ENST00000262160:exon7:c.T782G:p.L261W;ENSG00000175387:ENST00000402690:exon7:c.T782G:p.L261W;ENSG00000175387:ENST00000586040:exon5:c.T692G:p.L231W;	0.811978014614312	0.648
18	45377647	A	G	18	47851276	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.T692C:p.L231S;SMAD2:NM_005901:exon7:c.T782C:p.L261S;SMAD2:NM_001003652:exon7:c.T782C:p.L261S;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.T692C:p.L231S;ENSG00000175387:ENST00000591214:exon6:c.T692C:p.L231S;ENSG00000175387:ENST00000262160:exon7:c.T782C:p.L261S;ENSG00000175387:ENST00000402690:exon7:c.T782C:p.L261S;ENSG00000175387:ENST00000586040:exon5:c.T692C:p.L231S;	6.96875225665091E-4	0.008
18	45377647	A	T	18	47851276	y	y	exonic	SMAD2	stopgain SNV	SMAD2:NM_001135937:exon6:c.T692A:p.L231X;SMAD2:NM_005901:exon7:c.T782A:p.L261X;SMAD2:NM_001003652:exon7:c.T782A:p.L261X;	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000356825:exon6:c.T692A:p.L231X;ENSG00000175387:ENST00000591214:exon6:c.T692A:p.L231X;ENSG00000175387:ENST00000262160:exon7:c.T782A:p.L261X;ENSG00000175387:ENST00000402690:exon7:c.T782A:p.L261X;ENSG00000175387:ENST00000586040:exon5:c.T692A:p.L231X;	0.768336306523307	0.804
18	45377697	G	A	18	47851326	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon6:c.C642T:p.G214G;SMAD2:NM_005901:exon7:c.C732T:p.G244G;SMAD2:NM_001003652:exon7:c.C732T:p.G244G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.C642T:p.G214G;ENSG00000175387:ENST00000591214:exon6:c.C642T:p.G214G;ENSG00000175387:ENST00000262160:exon7:c.C732T:p.G244G;ENSG00000175387:ENST00000402690:exon7:c.C732T:p.G244G;ENSG00000175387:ENST00000586040:exon5:c.C642T:p.G214G;	1.17930164039596E-4	0.002
18	45377697	G	C	18	47851326	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon6:c.C642G:p.G214G;SMAD2:NM_005901:exon7:c.C732G:p.G244G;SMAD2:NM_001003652:exon7:c.C732G:p.G244G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.C642G:p.G214G;ENSG00000175387:ENST00000591214:exon6:c.C642G:p.G214G;ENSG00000175387:ENST00000262160:exon7:c.C732G:p.G244G;ENSG00000175387:ENST00000402690:exon7:c.C732G:p.G244G;ENSG00000175387:ENST00000586040:exon5:c.C642G:p.G214G;	1.7161322468777E-4	0.004
18	45377697	G	T	18	47851326	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon6:c.C642A:p.G214G;SMAD2:NM_005901:exon7:c.C732A:p.G244G;SMAD2:NM_001003652:exon7:c.C732A:p.G244G;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.C642A:p.G214G;ENSG00000175387:ENST00000591214:exon6:c.C642A:p.G214G;ENSG00000175387:ENST00000262160:exon7:c.C732A:p.G244G;ENSG00000175387:ENST00000402690:exon7:c.C732A:p.G244G;ENSG00000175387:ENST00000586040:exon5:c.C642A:p.G214G;	1.75010763451113E-4	0.0
18	45377698	C	A	18	47851327	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.G641T:p.G214V;SMAD2:NM_005901:exon7:c.G731T:p.G244V;SMAD2:NM_001003652:exon7:c.G731T:p.G244V;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G641T:p.G214V;ENSG00000175387:ENST00000591214:exon6:c.G641T:p.G214V;ENSG00000175387:ENST00000262160:exon7:c.G731T:p.G244V;ENSG00000175387:ENST00000402690:exon7:c.G731T:p.G244V;ENSG00000175387:ENST00000586040:exon5:c.G641T:p.G214V;	0.999806397443198	0.984
18	45377698	C	G	18	47851327	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.G641C:p.G214A;SMAD2:NM_005901:exon7:c.G731C:p.G244A;SMAD2:NM_001003652:exon7:c.G731C:p.G244A;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G641C:p.G214A;ENSG00000175387:ENST00000591214:exon6:c.G641C:p.G214A;ENSG00000175387:ENST00000262160:exon7:c.G731C:p.G244A;ENSG00000175387:ENST00000402690:exon7:c.G731C:p.G244A;ENSG00000175387:ENST00000586040:exon5:c.G641C:p.G214A;	0.999640340302491	0.962
18	45377698	C	T	18	47851327	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon6:c.G641A:p.G214D;SMAD2:NM_005901:exon7:c.G731A:p.G244D;SMAD2:NM_001003652:exon7:c.G731A:p.G244D;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon6:c.G641A:p.G214D;ENSG00000175387:ENST00000591214:exon6:c.G641A:p.G214D;ENSG00000175387:ENST00000262160:exon7:c.G731A:p.G244D;ENSG00000175387:ENST00000402690:exon7:c.G731A:p.G244D;ENSG00000175387:ENST00000586040:exon5:c.G641A:p.G214D;	0.999507374576965	0.894
18	45377699	C	A	18	47851328	y	y	splicing	SMAD2(NM_005901:exon8:c.731-1G>T;NM_001135937:exon7:c.641-1G>T;NM_001003652:exon8:c.731-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.731-1G>T;ENST00000262160:exon8:c.731-1G>T;ENST00000356825:exon7:c.641-1G>T;ENST00000586040:exon6:c.641-1G>T;ENST00000591214:exon7:c.641-1G>T)	.	.	0.999989072007339	0.932
18	45377699	C	G	18	47851328	y	y	splicing	SMAD2(NM_005901:exon8:c.731-1G>C;NM_001135937:exon7:c.641-1G>C;NM_001003652:exon8:c.731-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.731-1G>C;ENST00000262160:exon8:c.731-1G>C;ENST00000356825:exon7:c.641-1G>C;ENST00000586040:exon6:c.641-1G>C;ENST00000591214:exon7:c.641-1G>C)	.	.	0.999989072007339	0.932
18	45377699	C	T	18	47851328	y	y	splicing	SMAD2(NM_005901:exon8:c.731-1G>A;NM_001135937:exon7:c.641-1G>A;NM_001003652:exon8:c.731-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.731-1G>A;ENST00000262160:exon8:c.731-1G>A;ENST00000356825:exon7:c.641-1G>A;ENST00000586040:exon6:c.641-1G>A;ENST00000591214:exon7:c.641-1G>A)	.	.	0.999989072007339	0.932
18	45377700	T	A	18	47851329	y	y	splicing	SMAD2(NM_005901:exon8:c.731-2A>T;NM_001135937:exon7:c.641-2A>T;NM_001003652:exon8:c.731-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.731-2A>T;ENST00000262160:exon8:c.731-2A>T;ENST00000356825:exon7:c.641-2A>T;ENST00000586040:exon6:c.641-2A>T;ENST00000591214:exon7:c.641-2A>T)	.	.	0.999988247793601	0.928
18	45377700	T	C	18	47851329	y	y	splicing	SMAD2(NM_005901:exon8:c.731-2A>G;NM_001135937:exon7:c.641-2A>G;NM_001003652:exon8:c.731-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.731-2A>G;ENST00000262160:exon8:c.731-2A>G;ENST00000356825:exon7:c.641-2A>G;ENST00000586040:exon6:c.641-2A>G;ENST00000591214:exon7:c.641-2A>G)	.	.	0.999988247793601	0.916
18	45377700	T	G	18	47851329	y	y	splicing	SMAD2(NM_005901:exon8:c.731-2A>C;NM_001135937:exon7:c.641-2A>C;NM_001003652:exon8:c.731-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon8:c.731-2A>C;ENST00000262160:exon8:c.731-2A>C;ENST00000356825:exon7:c.641-2A>C;ENST00000586040:exon6:c.641-2A>C;ENST00000591214:exon7:c.641-2A>C)	.	.	0.999988247793601	0.926
18	45377701	A	C	18	47851330	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.648624915503305	0.568
18	45377701	A	G	18	47851330	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.80861961355854E-5	0.008
18	45377701	A	T	18	47851330	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0142753923999176	0.138
18	45377702	A	C	18	47851331	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00344192221395745	0.08
18	45377702	A	G	18	47851331	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.99342188401578E-4	0.014
18	45377702	A	T	18	47851331	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00309571123568879	0.078
18	45377703	A	C	18	47851332	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.216016543687689	0.514
18	45377703	A	G	18	47851332	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0166367826915626	0.166
18	45377703	A	T	18	47851332	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.100714538679696	0.496
18	45377704	A	C	18	47851333	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00229774519911274	0.14
18	45377704	A	G	18	47851333	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.31198479440107E-4	0.002
18	45377704	A	T	18	47851333	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00349663668538634	0.118
18	45377705	C	A	18	47851334	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.5570698627923E-5	0.0
18	45377705	C	G	18	47851334	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.48889852107316E-5	0.004
18	45377705	C	T	18	47851334	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.35981440048715E-4	0.002
18	45377706	A	C	18	47851335	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00125011231291061	0.076
18	45377706	A	G	18	47851335	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.63698749645196E-5	0.0
18	45377706	A	T	18	47851335	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99996569201472	0.984
18	45377707	A	C	18	47851336	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.03086383771949E-4	0.088
18	45377707	A	G	18	47851336	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.91757030532589E-5	0.0
18	45377707	A	T	18	47851336	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.77548054448169E-4	0.062
18	45377708	A	C	18	47851337	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0141335765910179	0.336
18	45377708	A	G	18	47851337	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.12091008465849E-4	0.052
18	45377708	A	T	18	47851337	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0104167611658019	0.34
18	45377709	A	C	18	47851338	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.44509984185234E-4	0.084
18	45377709	A	G	18	47851338	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.03235586653329E-4	0.03
18	45377709	A	T	18	47851338	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.10287436457161E-4	0.078
18	45377710	G	A	18	47851339	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.09534514053128E-5	0.004
18	45377710	G	C	18	47851339	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.48022761302004E-5	0.016
18	45377710	G	T	18	47851339	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.6665277864639E-5	0.016
18	45391422	T	A	18	47865051	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.8118560016452E-5	0.002
18	45391422	T	C	18	47865051	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.24748539095895E-5	0.0
18	45391422	T	G	18	47865051	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.25830683074669E-5	0.0
18	45391423	T	A	18	47865052	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.78890319855431E-5	0.002
18	45391423	T	C	18	47865052	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.41562233545103E-4	0.002
18	45391423	T	G	18	47865052	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.06933785449782E-5	0.0
18	45391424	T	A	18	47865053	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.44836532591807E-5	0.0
18	45391424	T	C	18	47865053	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.7630118239362E-5	0.0
18	45391424	T	G	18	47865053	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.00663809479095E-4	0.02
18	45391425	T	A	18	47865054	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0221527948307457	0.098
18	45391425	T	C	18	47865054	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.00592948973142E-4	0.02
18	45391425	T	G	18	47865054	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0085119289523247	0.1
18	45391426	T	A	18	47865055	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99962489186657	0.926
18	45391426	T	C	18	47865055	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99950953176892	0.93
18	45391426	T	G	18	47865055	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999173366712898	0.932
18	45391427	T	A	18	47865056	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998720848694361	0.816
18	45391427	T	C	18	47865056	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.837990952735472	0.522
18	45391427	T	G	18	47865056	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999212787818403	0.838
18	45391428	A	C	18	47865057	y	y	splicing	SMAD2(NM_005901:exon7:c.730+2T>G;NM_001135937:exon6:c.640+2T>G;NM_001003652:exon7:c.730+2T>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.730+2T>G;ENST00000262160:exon7:c.730+2T>G;ENST00000356825:exon6:c.640+2T>G;ENST00000586040:exon5:c.640+2T>G;ENST00000591214:exon6:c.640+2T>G)	.	.	0.999988247793601	0.928
18	45391428	A	G	18	47865057	y	y	splicing	SMAD2(NM_005901:exon7:c.730+2T>C;NM_001135937:exon6:c.640+2T>C;NM_001003652:exon7:c.730+2T>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.730+2T>C;ENST00000262160:exon7:c.730+2T>C;ENST00000356825:exon6:c.640+2T>C;ENST00000586040:exon5:c.640+2T>C;ENST00000591214:exon6:c.640+2T>C)	.	.	0.996722896740774	0.676
18	45391428	A	T	18	47865057	y	y	splicing	SMAD2(NM_005901:exon7:c.730+2T>A;NM_001135937:exon6:c.640+2T>A;NM_001003652:exon7:c.730+2T>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.730+2T>A;ENST00000262160:exon7:c.730+2T>A;ENST00000356825:exon6:c.640+2T>A;ENST00000586040:exon5:c.640+2T>A;ENST00000591214:exon6:c.640+2T>A)	.	.	0.999988247793601	0.928
18	45391429	C	A	18	47865058	y	y	splicing	SMAD2(NM_005901:exon7:c.730+1G>T;NM_001135937:exon6:c.640+1G>T;NM_001003652:exon7:c.730+1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.730+1G>T;ENST00000262160:exon7:c.730+1G>T;ENST00000356825:exon6:c.640+1G>T;ENST00000586040:exon5:c.640+1G>T;ENST00000591214:exon6:c.640+1G>T)	.	.	0.999989072007339	0.934
18	45391429	C	G	18	47865058	y	y	splicing	SMAD2(NM_005901:exon7:c.730+1G>C;NM_001135937:exon6:c.640+1G>C;NM_001003652:exon7:c.730+1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.730+1G>C;ENST00000262160:exon7:c.730+1G>C;ENST00000356825:exon6:c.640+1G>C;ENST00000586040:exon5:c.640+1G>C;ENST00000591214:exon6:c.640+1G>C)	.	.	0.999989072007339	0.934
18	45391429	C	T	18	47865058	y	y	splicing	SMAD2(NM_005901:exon7:c.730+1G>A;NM_001135937:exon6:c.640+1G>A;NM_001003652:exon7:c.730+1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.730+1G>A;ENST00000262160:exon7:c.730+1G>A;ENST00000356825:exon6:c.640+1G>A;ENST00000586040:exon5:c.640+1G>A;ENST00000591214:exon6:c.640+1G>A)	.	.	0.999989072007339	0.934
18	45391430	C	A	18	47865059	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.G640T:p.G214C;SMAD2:NM_005901:exon6:c.G730T:p.G244C;SMAD2:NM_001003652:exon6:c.G730T:p.G244C;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.G640T:p.G214C;ENSG00000175387:ENST00000591214:exon5:c.G640T:p.G214C;ENSG00000175387:ENST00000262160:exon6:c.G730T:p.G244C;ENSG00000175387:ENST00000402690:exon6:c.G730T:p.G244C;ENSG00000175387:ENST00000586040:exon4:c.G640T:p.G214C;	0.999992084630314	0.996
18	45391430	C	G	18	47865059	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.G640C:p.G214R;SMAD2:NM_005901:exon6:c.G730C:p.G244R;SMAD2:NM_001003652:exon6:c.G730C:p.G244R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.G640C:p.G214R;ENSG00000175387:ENST00000591214:exon5:c.G640C:p.G214R;ENSG00000175387:ENST00000262160:exon6:c.G730C:p.G244R;ENSG00000175387:ENST00000402690:exon6:c.G730C:p.G244R;ENSG00000175387:ENST00000586040:exon4:c.G640C:p.G214R;	0.999997871243653	0.998
18	45391430	C	T	18	47865059	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.G640A:p.G214S;SMAD2:NM_005901:exon6:c.G730A:p.G244S;SMAD2:NM_001003652:exon6:c.G730A:p.G244S;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.G640A:p.G214S;ENSG00000175387:ENST00000591214:exon5:c.G640A:p.G214S;ENSG00000175387:ENST00000262160:exon6:c.G730A:p.G244S;ENSG00000175387:ENST00000402690:exon6:c.G730A:p.G244S;ENSG00000175387:ENST00000586040:exon4:c.G640A:p.G214S;	0.999993080645548	0.988
18	45391431	T	A	18	47865060	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon5:c.A639T:p.T213T;SMAD2:NM_005901:exon6:c.A729T:p.T243T;SMAD2:NM_001003652:exon6:c.A729T:p.T243T;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A639T:p.T213T;ENSG00000175387:ENST00000591214:exon5:c.A639T:p.T213T;ENSG00000175387:ENST00000262160:exon6:c.A729T:p.T243T;ENSG00000175387:ENST00000402690:exon6:c.A729T:p.T243T;ENSG00000175387:ENST00000586040:exon4:c.A639T:p.T213T;	0.992930352568086	0.86
18	45391431	T	C	18	47865060	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon5:c.A639G:p.T213T;SMAD2:NM_005901:exon6:c.A729G:p.T243T;SMAD2:NM_001003652:exon6:c.A729G:p.T243T;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A639G:p.T213T;ENSG00000175387:ENST00000591214:exon5:c.A639G:p.T213T;ENSG00000175387:ENST00000262160:exon6:c.A729G:p.T243T;ENSG00000175387:ENST00000402690:exon6:c.A729G:p.T243T;ENSG00000175387:ENST00000586040:exon4:c.A639G:p.T213T;	0.993828858946175	0.848
18	45391431	T	G	18	47865060	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon5:c.A639C:p.T213T;SMAD2:NM_005901:exon6:c.A729C:p.T243T;SMAD2:NM_001003652:exon6:c.A729C:p.T243T;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A639C:p.T213T;ENSG00000175387:ENST00000591214:exon5:c.A639C:p.T213T;ENSG00000175387:ENST00000262160:exon6:c.A729C:p.T243T;ENSG00000175387:ENST00000402690:exon6:c.A729C:p.T243T;ENSG00000175387:ENST00000586040:exon4:c.A639C:p.T213T;	0.977407593531931	0.744
18	45391432	G	A	18	47865061	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.C638T:p.T213I;SMAD2:NM_005901:exon6:c.C728T:p.T243I;SMAD2:NM_001003652:exon6:c.C728T:p.T243I;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.C638T:p.T213I;ENSG00000175387:ENST00000591214:exon5:c.C638T:p.T213I;ENSG00000175387:ENST00000262160:exon6:c.C728T:p.T243I;ENSG00000175387:ENST00000402690:exon6:c.C728T:p.T243I;ENSG00000175387:ENST00000586040:exon4:c.C638T:p.T213I;	0.999826359200641	0.966
18	45391432	G	C	18	47865061	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.C638G:p.T213R;SMAD2:NM_005901:exon6:c.C728G:p.T243R;SMAD2:NM_001003652:exon6:c.C728G:p.T243R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.C638G:p.T213R;ENSG00000175387:ENST00000591214:exon5:c.C638G:p.T213R;ENSG00000175387:ENST00000262160:exon6:c.C728G:p.T243R;ENSG00000175387:ENST00000402690:exon6:c.C728G:p.T243R;ENSG00000175387:ENST00000586040:exon4:c.C638G:p.T213R;	0.957561164289603	0.646
18	45391432	G	T	18	47865061	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.C638A:p.T213K;SMAD2:NM_005901:exon6:c.C728A:p.T243K;SMAD2:NM_001003652:exon6:c.C728A:p.T243K;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.C638A:p.T213K;ENSG00000175387:ENST00000591214:exon5:c.C638A:p.T213K;ENSG00000175387:ENST00000262160:exon6:c.C728A:p.T243K;ENSG00000175387:ENST00000402690:exon6:c.C728A:p.T243K;ENSG00000175387:ENST00000586040:exon4:c.C638A:p.T213K;	0.961806056670017	0.806
18	45391503	T	A	18	47865132	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.A567T:p.E189D;SMAD2:NM_005901:exon6:c.A657T:p.E219D;SMAD2:NM_001003652:exon6:c.A657T:p.E219D;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A567T:p.E189D;ENSG00000175387:ENST00000591214:exon5:c.A567T:p.E189D;ENSG00000175387:ENST00000262160:exon6:c.A657T:p.E219D;ENSG00000175387:ENST00000402690:exon6:c.A657T:p.E219D;ENSG00000175387:ENST00000586040:exon4:c.A567T:p.E189D;	0.0148597314039793	0.108
18	45391503	T	C	18	47865132	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon5:c.A567G:p.E189E;SMAD2:NM_005901:exon6:c.A657G:p.E219E;SMAD2:NM_001003652:exon6:c.A657G:p.E219E;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A567G:p.E189E;ENSG00000175387:ENST00000591214:exon5:c.A567G:p.E189E;ENSG00000175387:ENST00000262160:exon6:c.A657G:p.E219E;ENSG00000175387:ENST00000402690:exon6:c.A657G:p.E219E;ENSG00000175387:ENST00000586040:exon4:c.A567G:p.E189E;	0.23230692718961	0.432
18	45391503	T	G	18	47865132	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.A567C:p.E189D;SMAD2:NM_005901:exon6:c.A657C:p.E219D;SMAD2:NM_001003652:exon6:c.A657C:p.E219D;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A567C:p.E189D;ENSG00000175387:ENST00000591214:exon5:c.A567C:p.E189D;ENSG00000175387:ENST00000262160:exon6:c.A657C:p.E219D;ENSG00000175387:ENST00000402690:exon6:c.A657C:p.E219D;ENSG00000175387:ENST00000586040:exon4:c.A567C:p.E189D;	0.0253814650685793	0.106
18	45391504	T	A	18	47865133	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.A566T:p.E189V;SMAD2:NM_005901:exon6:c.A656T:p.E219V;SMAD2:NM_001003652:exon6:c.A656T:p.E219V;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A566T:p.E189V;ENSG00000175387:ENST00000591214:exon5:c.A566T:p.E189V;ENSG00000175387:ENST00000262160:exon6:c.A656T:p.E219V;ENSG00000175387:ENST00000402690:exon6:c.A656T:p.E219V;ENSG00000175387:ENST00000586040:exon4:c.A566T:p.E189V;	0.846892942445372	0.514
18	45391504	T	C	18	47865133	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.A566G:p.E189G;SMAD2:NM_005901:exon6:c.A656G:p.E219G;SMAD2:NM_001003652:exon6:c.A656G:p.E219G;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A566G:p.E189G;ENSG00000175387:ENST00000591214:exon5:c.A566G:p.E189G;ENSG00000175387:ENST00000262160:exon6:c.A656G:p.E219G;ENSG00000175387:ENST00000402690:exon6:c.A656G:p.E219G;ENSG00000175387:ENST00000586040:exon4:c.A566G:p.E189G;	0.698501781543965	0.394
18	45391504	T	G	18	47865133	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon5:c.A566C:p.E189A;SMAD2:NM_005901:exon6:c.A656C:p.E219A;SMAD2:NM_001003652:exon6:c.A656C:p.E219A;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon5:c.A566C:p.E189A;ENSG00000175387:ENST00000591214:exon5:c.A566C:p.E189A;ENSG00000175387:ENST00000262160:exon6:c.A656C:p.E219A;ENSG00000175387:ENST00000402690:exon6:c.A656C:p.E219A;ENSG00000175387:ENST00000586040:exon4:c.A566C:p.E189A;	0.93293517211786	0.58
18	45391505	C	A	18	47865134	y	y	splicing	SMAD2(NM_005901:exon7:c.656-1G>T;NM_001135937:exon6:c.566-1G>T;NM_001003652:exon7:c.656-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.656-1G>T;ENST00000262160:exon7:c.656-1G>T;ENST00000356825:exon6:c.566-1G>T;ENST00000586040:exon5:c.566-1G>T;ENST00000591214:exon6:c.566-1G>T)	.	.	0.999993288802665	0.952
18	45391505	C	G	18	47865134	y	y	splicing	SMAD2(NM_005901:exon7:c.656-1G>C;NM_001135937:exon6:c.566-1G>C;NM_001003652:exon7:c.656-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.656-1G>C;ENST00000262160:exon7:c.656-1G>C;ENST00000356825:exon6:c.566-1G>C;ENST00000586040:exon5:c.566-1G>C;ENST00000591214:exon6:c.566-1G>C)	.	.	0.999993288802665	0.952
18	45391505	C	T	18	47865134	y	y	splicing	SMAD2(NM_005901:exon7:c.656-1G>A;NM_001135937:exon6:c.566-1G>A;NM_001003652:exon7:c.656-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.656-1G>A;ENST00000262160:exon7:c.656-1G>A;ENST00000356825:exon6:c.566-1G>A;ENST00000586040:exon5:c.566-1G>A;ENST00000591214:exon6:c.566-1G>A)	.	.	0.999993288802665	0.952
18	45391506	T	A	18	47865135	y	y	splicing	SMAD2(NM_005901:exon7:c.656-2A>T;NM_001135937:exon6:c.566-2A>T;NM_001003652:exon7:c.656-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.656-2A>T;ENST00000262160:exon7:c.656-2A>T;ENST00000356825:exon6:c.566-2A>T;ENST00000586040:exon5:c.566-2A>T;ENST00000591214:exon6:c.566-2A>T)	.	.	0.999988247793601	0.946
18	45391506	T	C	18	47865135	y	y	splicing	SMAD2(NM_005901:exon7:c.656-2A>G;NM_001135937:exon6:c.566-2A>G;NM_001003652:exon7:c.656-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.656-2A>G;ENST00000262160:exon7:c.656-2A>G;ENST00000356825:exon6:c.566-2A>G;ENST00000586040:exon5:c.566-2A>G;ENST00000591214:exon6:c.566-2A>G)	.	.	0.999988247793601	0.946
18	45391506	T	G	18	47865135	y	y	splicing	SMAD2(NM_005901:exon7:c.656-2A>C;NM_001135937:exon6:c.566-2A>C;NM_001003652:exon7:c.656-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon7:c.656-2A>C;ENST00000262160:exon7:c.656-2A>C;ENST00000356825:exon6:c.566-2A>C;ENST00000586040:exon5:c.566-2A>C;ENST00000591214:exon6:c.566-2A>C)	.	.	0.999988247793601	0.946
18	45391507	A	C	18	47865136	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999492569074189	0.914
18	45391507	A	G	18	47865136	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00169983748136459	0.054
18	45391507	A	T	18	47865136	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.987720592298759	0.748
18	45391508	C	A	18	47865137	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.17796315780493E-4	0.0
18	45391508	C	G	18	47865137	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.86873719631812E-5	0.0
18	45391508	C	T	18	47865137	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.6372451238836E-4	0.008
18	45391509	A	C	18	47865138	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998593002706792	0.93
18	45391509	A	G	18	47865138	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.122350745870366	0.258
18	45391509	A	T	18	47865138	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999933411036648	0.982
18	45391510	A	C	18	47865139	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.716959617953881	0.586
18	45391510	A	G	18	47865139	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00105515428534164	0.154
18	45391510	A	T	18	47865139	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.764476250907602	0.644
18	45391511	A	C	18	47865140	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998996453457243	0.74
18	45391511	A	G	18	47865140	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.86793706592197	0.484
18	45391511	A	T	18	47865140	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998669326507239	0.664
18	45391512	A	C	18	47865141	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0244901023492932	0.286
18	45391512	A	G	18	47865141	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.90108023160051E-4	0.01
18	45391512	A	T	18	47865141	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0981952629927444	0.36
18	45391513	G	A	18	47865142	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.40516545398945E-4	0.002
18	45391513	G	C	18	47865142	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999887643801659	0.988
18	45391513	G	T	18	47865142	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00246339041733633	0.04
18	45391514	T	A	18	47865143	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.19307611659251E-4	0.03
18	45391514	T	C	18	47865143	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998229131710703	0.916
18	45391514	T	G	18	47865143	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.81348251456804E-4	0.018
18	45391515	T	A	18	47865144	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.6440018169408E-5	0.046
18	45391515	T	C	18	47865144	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.500014380058862	0.902
18	45391515	T	G	18	47865144	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.33035633545779E-6	0.0
18	45391516	T	A	18	47865145	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.93677274536271E-5	0.046
18	45391516	T	C	18	47865145	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.12622955860025E-5	0.02
18	45391516	T	G	18	47865145	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.37549692584271E-5	0.0
18	45394686	A	C	18	47868315	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.15517126994829E-4	0.028
18	45394686	A	G	18	47868315	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.39659688444736E-4	0.018
18	45394686	A	T	18	47868315	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00183121726218254	0.04
18	45394687	A	C	18	47868316	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00255842602264975	0.002
18	45394687	A	G	18	47868316	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00103542332703389	0.006
18	45394687	A	T	18	47868316	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00138502580126056	0.004
18	45394688	A	C	18	47868317	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.87608260741449E-4	0.226
18	45394688	A	G	18	47868317	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00233046628522645	0.234
18	45394688	A	T	18	47868317	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.95474531509362E-4	0.174
18	45394689	A	C	18	47868318	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.35035930149219E-5	0.002
18	45394689	A	G	18	47868318	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.00421325799455E-5	0.0
18	45394689	A	T	18	47868318	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.23838867499737E-5	0.014
18	45394690	A	C	18	47868319	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.24663731642048E-5	0.01
18	45394690	A	G	18	47868319	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.94803501924639E-5	0.01
18	45394690	A	T	18	47868319	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.40305832044706E-5	0.002
18	45394691	T	A	18	47868320	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999143021303859	0.968
18	45394691	T	C	18	47868320	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999783764326693	0.932
18	45394691	T	G	18	47868320	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999873859901242	0.948
18	45394692	A	C	18	47868321	y	y	splicing	SMAD2(NM_005901:exon6:c.655+2T>G;NM_001135937:exon5:c.565+2T>G;NM_001003652:exon6:c.655+2T>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.655+2T>G;ENST00000262160:exon6:c.655+2T>G;ENST00000356825:exon5:c.565+2T>G;ENST00000586040:exon4:c.565+2T>G;ENST00000591214:exon5:c.565+2T>G)	.	.	0.999990764389106	0.94
18	45394692	A	G	18	47868321	y	y	splicing	SMAD2(NM_005901:exon6:c.655+2T>C;NM_001135937:exon5:c.565+2T>C;NM_001003652:exon6:c.655+2T>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.655+2T>C;ENST00000262160:exon6:c.655+2T>C;ENST00000356825:exon5:c.565+2T>C;ENST00000586040:exon4:c.565+2T>C;ENST00000591214:exon5:c.565+2T>C)	.	.	0.994810718140091	0.686
18	45394692	A	T	18	47868321	y	y	splicing	SMAD2(NM_005901:exon6:c.655+2T>A;NM_001135937:exon5:c.565+2T>A;NM_001003652:exon6:c.655+2T>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.655+2T>A;ENST00000262160:exon6:c.655+2T>A;ENST00000356825:exon5:c.565+2T>A;ENST00000586040:exon4:c.565+2T>A;ENST00000591214:exon5:c.565+2T>A)	.	.	0.999990764389106	0.942
18	45394693	C	A	18	47868322	y	y	splicing	SMAD2(NM_005901:exon6:c.655+1G>T;NM_001135937:exon5:c.565+1G>T;NM_001003652:exon6:c.655+1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.655+1G>T;ENST00000262160:exon6:c.655+1G>T;ENST00000356825:exon5:c.565+1G>T;ENST00000586040:exon4:c.565+1G>T;ENST00000591214:exon5:c.565+1G>T)	.	.	0.999992425382947	0.94
18	45394693	C	G	18	47868322	y	y	splicing	SMAD2(NM_005901:exon6:c.655+1G>C;NM_001135937:exon5:c.565+1G>C;NM_001003652:exon6:c.655+1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.655+1G>C;ENST00000262160:exon6:c.655+1G>C;ENST00000356825:exon5:c.565+1G>C;ENST00000586040:exon4:c.565+1G>C;ENST00000591214:exon5:c.565+1G>C)	.	.	0.999992425382947	0.94
18	45394693	C	T	18	47868322	y	y	splicing	SMAD2(NM_005901:exon6:c.655+1G>A;NM_001135937:exon5:c.565+1G>A;NM_001003652:exon6:c.655+1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.655+1G>A;ENST00000262160:exon6:c.655+1G>A;ENST00000356825:exon5:c.565+1G>A;ENST00000586040:exon4:c.565+1G>A;ENST00000591214:exon5:c.565+1G>A)	.	.	0.999992425382947	0.94
18	45394694	C	A	18	47868323	y	y	exonic	SMAD2	stopgain SNV	SMAD2:NM_001135937:exon4:c.G565T:p.E189X;SMAD2:NM_005901:exon5:c.G655T:p.E219X;SMAD2:NM_001003652:exon5:c.G655T:p.E219X;	exonic	ENSG00000175387	stopgain SNV	ENSG00000175387:ENST00000356825:exon4:c.G565T:p.E189X;ENSG00000175387:ENST00000591214:exon4:c.G565T:p.E189X;ENSG00000175387:ENST00000262160:exon5:c.G655T:p.E219X;ENSG00000175387:ENST00000402690:exon5:c.G655T:p.E219X;ENSG00000175387:ENST00000586040:exon3:c.G565T:p.E189X;	0.999988631589442	0.932
18	45394694	C	G	18	47868323	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon4:c.G565C:p.E189Q;SMAD2:NM_005901:exon5:c.G655C:p.E219Q;SMAD2:NM_001003652:exon5:c.G655C:p.E219Q;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.G565C:p.E189Q;ENSG00000175387:ENST00000591214:exon4:c.G565C:p.E189Q;ENSG00000175387:ENST00000262160:exon5:c.G655C:p.E219Q;ENSG00000175387:ENST00000402690:exon5:c.G655C:p.E219Q;ENSG00000175387:ENST00000586040:exon3:c.G565C:p.E189Q;	0.999997397051864	1.0
18	45394694	C	T	18	47868323	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon4:c.G565A:p.E189K;SMAD2:NM_005901:exon5:c.G655A:p.E219K;SMAD2:NM_001003652:exon5:c.G655A:p.E219K;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.G565A:p.E189K;ENSG00000175387:ENST00000591214:exon4:c.G565A:p.E189K;ENSG00000175387:ENST00000262160:exon5:c.G655A:p.E219K;ENSG00000175387:ENST00000402690:exon5:c.G655A:p.E219K;ENSG00000175387:ENST00000586040:exon3:c.G565A:p.E189K;	0.999996692277508	1.0
18	45394695	T	A	18	47868324	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon4:c.A564T:p.P188P;SMAD2:NM_005901:exon5:c.A654T:p.P218P;SMAD2:NM_001003652:exon5:c.A654T:p.P218P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.A564T:p.P188P;ENSG00000175387:ENST00000591214:exon4:c.A564T:p.P188P;ENSG00000175387:ENST00000262160:exon5:c.A654T:p.P218P;ENSG00000175387:ENST00000402690:exon5:c.A654T:p.P218P;ENSG00000175387:ENST00000586040:exon3:c.A564T:p.P188P;	0.99978417038687	0.986
18	45394695	T	C	18	47868324	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon4:c.A564G:p.P188P;SMAD2:NM_005901:exon5:c.A654G:p.P218P;SMAD2:NM_001003652:exon5:c.A654G:p.P218P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.A564G:p.P188P;ENSG00000175387:ENST00000591214:exon4:c.A564G:p.P188P;ENSG00000175387:ENST00000262160:exon5:c.A654G:p.P218P;ENSG00000175387:ENST00000402690:exon5:c.A654G:p.P218P;ENSG00000175387:ENST00000586040:exon3:c.A564G:p.P188P;	0.999741430687037	0.994
18	45394695	T	G	18	47868324	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon4:c.A564C:p.P188P;SMAD2:NM_005901:exon5:c.A654C:p.P218P;SMAD2:NM_001003652:exon5:c.A654C:p.P218P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.A564C:p.P188P;ENSG00000175387:ENST00000591214:exon4:c.A564C:p.P188P;ENSG00000175387:ENST00000262160:exon5:c.A654C:p.P218P;ENSG00000175387:ENST00000402690:exon5:c.A654C:p.P218P;ENSG00000175387:ENST00000586040:exon3:c.A564C:p.P188P;	0.999661141885794	0.992
18	45394696	G	A	18	47868325	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon4:c.C563T:p.P188L;SMAD2:NM_005901:exon5:c.C653T:p.P218L;SMAD2:NM_001003652:exon5:c.C653T:p.P218L;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.C563T:p.P188L;ENSG00000175387:ENST00000591214:exon4:c.C563T:p.P188L;ENSG00000175387:ENST00000262160:exon5:c.C653T:p.P218L;ENSG00000175387:ENST00000402690:exon5:c.C653T:p.P218L;ENSG00000175387:ENST00000586040:exon3:c.C563T:p.P188L;	0.999853946253012	0.984
18	45394696	G	C	18	47868325	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon4:c.C563G:p.P188R;SMAD2:NM_005901:exon5:c.C653G:p.P218R;SMAD2:NM_001003652:exon5:c.C653G:p.P218R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.C563G:p.P188R;ENSG00000175387:ENST00000591214:exon4:c.C563G:p.P188R;ENSG00000175387:ENST00000262160:exon5:c.C653G:p.P218R;ENSG00000175387:ENST00000402690:exon5:c.C653G:p.P218R;ENSG00000175387:ENST00000586040:exon3:c.C563G:p.P188R;	0.941179829177902	0.644
18	45394696	G	T	18	47868325	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon4:c.C563A:p.P188Q;SMAD2:NM_005901:exon5:c.C653A:p.P218Q;SMAD2:NM_001003652:exon5:c.C653A:p.P218Q;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.C563A:p.P188Q;ENSG00000175387:ENST00000591214:exon4:c.C563A:p.P188Q;ENSG00000175387:ENST00000262160:exon5:c.C653A:p.P218Q;ENSG00000175387:ENST00000402690:exon5:c.C653A:p.P218Q;ENSG00000175387:ENST00000586040:exon3:c.C563A:p.P188Q;	0.952247644221308	0.74
18	45394827	A	C	18	47868456	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon4:c.T432G:p.V144V;SMAD2:NM_005901:exon5:c.T522G:p.V174V;SMAD2:NM_001003652:exon5:c.T522G:p.V174V;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.T432G:p.V144V;ENSG00000175387:ENST00000591214:exon4:c.T432G:p.V144V;ENSG00000175387:ENST00000262160:exon5:c.T522G:p.V174V;ENSG00000175387:ENST00000587269:exon6:c.T522G:p.V174V;ENSG00000175387:ENST00000402690:exon5:c.T522G:p.V174V;ENSG00000175387:ENST00000586514:exon6:c.T522G:p.V174V;ENSG00000175387:ENST00000586040:exon3:c.T432G:p.V144V;	5.37747929536932E-4	0.134
18	45394827	A	G	18	47868456	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon4:c.T432C:p.V144V;SMAD2:NM_005901:exon5:c.T522C:p.V174V;SMAD2:NM_001003652:exon5:c.T522C:p.V174V;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.T432C:p.V144V;ENSG00000175387:ENST00000591214:exon4:c.T432C:p.V144V;ENSG00000175387:ENST00000262160:exon5:c.T522C:p.V174V;ENSG00000175387:ENST00000587269:exon6:c.T522C:p.V174V;ENSG00000175387:ENST00000402690:exon5:c.T522C:p.V174V;ENSG00000175387:ENST00000586514:exon6:c.T522C:p.V174V;ENSG00000175387:ENST00000586040:exon3:c.T432C:p.V144V;	0.00188335108939682	0.186
18	45394827	A	T	18	47868456	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon4:c.T432A:p.V144V;SMAD2:NM_005901:exon5:c.T522A:p.V174V;SMAD2:NM_001003652:exon5:c.T522A:p.V174V;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.T432A:p.V144V;ENSG00000175387:ENST00000591214:exon4:c.T432A:p.V144V;ENSG00000175387:ENST00000262160:exon5:c.T522A:p.V174V;ENSG00000175387:ENST00000587269:exon6:c.T522A:p.V174V;ENSG00000175387:ENST00000402690:exon5:c.T522A:p.V174V;ENSG00000175387:ENST00000586514:exon6:c.T522A:p.V174V;ENSG00000175387:ENST00000586040:exon3:c.T432A:p.V144V;	6.36032158946967E-4	0.138
18	45394828	A	C	18	47868457	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon4:c.T431G:p.V144G;SMAD2:NM_005901:exon5:c.T521G:p.V174G;SMAD2:NM_001003652:exon5:c.T521G:p.V174G;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.T431G:p.V144G;ENSG00000175387:ENST00000591214:exon4:c.T431G:p.V144G;ENSG00000175387:ENST00000262160:exon5:c.T521G:p.V174G;ENSG00000175387:ENST00000587269:exon6:c.T521G:p.V174G;ENSG00000175387:ENST00000402690:exon5:c.T521G:p.V174G;ENSG00000175387:ENST00000586514:exon6:c.T521G:p.V174G;ENSG00000175387:ENST00000586040:exon3:c.T431G:p.V144G;	0.797117642572026	0.47
18	45394828	A	G	18	47868457	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon4:c.T431C:p.V144A;SMAD2:NM_005901:exon5:c.T521C:p.V174A;SMAD2:NM_001003652:exon5:c.T521C:p.V174A;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.T431C:p.V144A;ENSG00000175387:ENST00000591214:exon4:c.T431C:p.V144A;ENSG00000175387:ENST00000262160:exon5:c.T521C:p.V174A;ENSG00000175387:ENST00000587269:exon6:c.T521C:p.V174A;ENSG00000175387:ENST00000402690:exon5:c.T521C:p.V174A;ENSG00000175387:ENST00000586514:exon6:c.T521C:p.V174A;ENSG00000175387:ENST00000586040:exon3:c.T431C:p.V144A;	0.842805330211084	0.604
18	45394828	A	T	18	47868457	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon4:c.T431A:p.V144D;SMAD2:NM_005901:exon5:c.T521A:p.V174D;SMAD2:NM_001003652:exon5:c.T521A:p.V174D;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon4:c.T431A:p.V144D;ENSG00000175387:ENST00000591214:exon4:c.T431A:p.V144D;ENSG00000175387:ENST00000262160:exon5:c.T521A:p.V174D;ENSG00000175387:ENST00000587269:exon6:c.T521A:p.V174D;ENSG00000175387:ENST00000402690:exon5:c.T521A:p.V174D;ENSG00000175387:ENST00000586514:exon6:c.T521A:p.V174D;ENSG00000175387:ENST00000586040:exon3:c.T431A:p.V144D;	0.734607980954045	0.698
18	45394829	C	A	18	47868458	y	y	splicing	SMAD2(NM_005901:exon6:c.521-1G>T;NM_001135937:exon5:c.431-1G>T;NM_001003652:exon6:c.521-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.521-1G>T;ENST00000262160:exon6:c.521-1G>T;ENST00000356825:exon5:c.431-1G>T;ENST00000586040:exon4:c.431-1G>T;ENST00000591214:exon5:c.431-1G>T;ENST00000587269:exon7:c.521-1G>T;ENST00000586514:exon7:c.521-1G>T)	.	.	0.999989263107695	0.938
18	45394829	C	G	18	47868458	y	y	splicing	SMAD2(NM_005901:exon6:c.521-1G>C;NM_001135937:exon5:c.431-1G>C;NM_001003652:exon6:c.521-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.521-1G>C;ENST00000262160:exon6:c.521-1G>C;ENST00000356825:exon5:c.431-1G>C;ENST00000586040:exon4:c.431-1G>C;ENST00000591214:exon5:c.431-1G>C;ENST00000587269:exon7:c.521-1G>C;ENST00000586514:exon7:c.521-1G>C)	.	.	0.999989263107695	0.936
18	45394829	C	T	18	47868458	y	y	splicing	SMAD2(NM_005901:exon6:c.521-1G>A;NM_001135937:exon5:c.431-1G>A;NM_001003652:exon6:c.521-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.521-1G>A;ENST00000262160:exon6:c.521-1G>A;ENST00000356825:exon5:c.431-1G>A;ENST00000586040:exon4:c.431-1G>A;ENST00000591214:exon5:c.431-1G>A;ENST00000587269:exon7:c.521-1G>A;ENST00000586514:exon7:c.521-1G>A)	.	.	0.999989263107695	0.938
18	45394830	T	A	18	47868459	y	y	splicing	SMAD2(NM_005901:exon6:c.521-2A>T;NM_001135937:exon5:c.431-2A>T;NM_001003652:exon6:c.521-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.521-2A>T;ENST00000262160:exon6:c.521-2A>T;ENST00000356825:exon5:c.431-2A>T;ENST00000586040:exon4:c.431-2A>T;ENST00000591214:exon5:c.431-2A>T;ENST00000587269:exon7:c.521-2A>T;ENST00000586514:exon7:c.521-2A>T)	.	.	0.999988247793601	0.932
18	45394830	T	C	18	47868459	y	y	splicing	SMAD2(NM_005901:exon6:c.521-2A>G;NM_001135937:exon5:c.431-2A>G;NM_001003652:exon6:c.521-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.521-2A>G;ENST00000262160:exon6:c.521-2A>G;ENST00000356825:exon5:c.431-2A>G;ENST00000586040:exon4:c.431-2A>G;ENST00000591214:exon5:c.431-2A>G;ENST00000587269:exon7:c.521-2A>G;ENST00000586514:exon7:c.521-2A>G)	.	.	0.999988247793601	0.932
18	45394830	T	G	18	47868459	y	y	splicing	SMAD2(NM_005901:exon6:c.521-2A>C;NM_001135937:exon5:c.431-2A>C;NM_001003652:exon6:c.521-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon6:c.521-2A>C;ENST00000262160:exon6:c.521-2A>C;ENST00000356825:exon5:c.431-2A>C;ENST00000586040:exon4:c.431-2A>C;ENST00000591214:exon5:c.431-2A>C;ENST00000587269:exon7:c.521-2A>C;ENST00000586514:exon7:c.521-2A>C)	.	.	0.999988247793601	0.932
18	45394831	G	A	18	47868460	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0013290175518158	0.04
18	45394831	G	C	18	47868460	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999779264494562	0.85
18	45394831	G	T	18	47868460	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.382416600357892	0.52
18	45394832	A	C	18	47868461	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.43710877483672E-4	0.006
18	45394832	A	G	18	47868461	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.32850676344055E-4	0.006
18	45394832	A	T	18	47868461	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.79838701331082E-5	0.004
18	45394833	A	C	18	47868462	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.989721430888575	0.666
18	45394833	A	G	18	47868462	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0448153198407248	0.298
18	45394833	A	T	18	47868462	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.984386809676787	0.688
18	45394834	A	C	18	47868463	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.977616172952863	0.646
18	45394834	A	G	18	47868463	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0139307230116136	0.148
18	45394834	A	T	18	47868463	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99706021821949	0.756
18	45394835	A	C	18	47868464	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.019391614545444	0.142
18	45394835	A	G	18	47868464	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.73657785568951E-4	0.002
18	45394835	A	T	18	47868464	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0102954646405019	0.104
18	45394836	A	C	18	47868465	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.61299088550943E-4	0.058
18	45394836	A	G	18	47868465	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.11595115559139E-5	0.0
18	45394836	A	T	18	47868465	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00498428581018956	0.12
18	45394837	G	A	18	47868466	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00103598032898771	0.01
18	45394837	G	C	18	47868466	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999876163611765	0.974
18	45394837	G	T	18	47868466	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0207094529589853	0.098
18	45394838	T	A	18	47868467	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.3721219404646E-5	0.01
18	45394838	T	C	18	47868467	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.997977858335407	0.922
18	45394838	T	G	18	47868467	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.66317253425841E-5	0.0
18	45394839	T	A	18	47868468	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.48675038364074E-4	0.118
18	45394839	T	C	18	47868468	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.78098758928831E-4	0.058
18	45394839	T	G	18	47868468	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.80623941613395E-4	0.054
18	45394840	C	A	18	47868469	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.46212398859255E-5	0.004
18	45394840	C	G	18	47868469	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.3017396173567E-5	0.0
18	45394840	C	T	18	47868469	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.04426356135042E-4	0.002
18	45395606	A	C	18	47869235	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.28095991200051E-5	0.0
18	45395606	A	G	18	47869235	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.72410482137535E-6	0.0
18	45395606	A	T	18	47869235	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.28095991200051E-5	0.0
18	45395607	T	A	18	47869236	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.62664281804568E-4	0.0
18	45395607	T	C	18	47869236	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.0617073089448E-5	0.0
18	45395607	T	G	18	47869236	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.0617073089448E-5	0.0
18	45395608	T	A	18	47869237	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.04737572979891E-5	0.0
18	45395608	T	C	18	47869237	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.71989704579224E-6	0.0
18	45395608	T	G	18	47869237	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.28114356433112E-5	0.006
18	45395609	C	A	18	47869238	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998903746602854	0.716
18	45395609	C	G	18	47869238	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.990265147575938	0.734
18	45395609	C	T	18	47869238	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.491744303579288	0.45
18	45395610	C	A	18	47869239	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.66431011405494E-4	0.054
18	45395610	C	G	18	47869239	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00231259564485198	0.134
18	45395610	C	T	18	47869239	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.39195562448447E-4	0.102
18	45395611	T	A	18	47869240	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.883803603025043	0.602
18	45395611	T	C	18	47869240	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0352078939126553	0.24
18	45395611	T	G	18	47869240	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.882090415262291	0.592
18	45395612	A	C	18	47869241	y	y	splicing	SMAD2(NM_005901:exon5:c.520+2T>G;NM_001135937:exon4:c.430+2T>G;NM_001003652:exon5:c.520+2T>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.520+2T>G;ENST00000262160:exon5:c.520+2T>G;ENST00000356825:exon4:c.430+2T>G;ENST00000586040:exon3:c.430+2T>G;ENST00000591214:exon4:c.430+2T>G;ENST00000587269:exon6:c.520+2T>G;ENST00000586514:exon6:c.520+2T>G)	.	.	0.99998174402319	0.926
18	45395612	A	G	18	47869241	y	y	splicing	SMAD2(NM_005901:exon5:c.520+2T>C;NM_001135937:exon4:c.430+2T>C;NM_001003652:exon5:c.520+2T>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.520+2T>C;ENST00000262160:exon5:c.520+2T>C;ENST00000356825:exon4:c.430+2T>C;ENST00000586040:exon3:c.430+2T>C;ENST00000591214:exon4:c.430+2T>C;ENST00000587269:exon6:c.520+2T>C;ENST00000586514:exon6:c.520+2T>C)	.	.	0.99093437266484	0.638
18	45395612	A	T	18	47869241	y	y	splicing	SMAD2(NM_005901:exon5:c.520+2T>A;NM_001135937:exon4:c.430+2T>A;NM_001003652:exon5:c.520+2T>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.520+2T>A;ENST00000262160:exon5:c.520+2T>A;ENST00000356825:exon4:c.430+2T>A;ENST00000586040:exon3:c.430+2T>A;ENST00000591214:exon4:c.430+2T>A;ENST00000587269:exon6:c.520+2T>A;ENST00000586514:exon6:c.520+2T>A)	.	.	0.999986903042585	0.928
18	45395613	C	A	18	47869242	y	y	splicing	SMAD2(NM_005901:exon5:c.520+1G>T;NM_001135937:exon4:c.430+1G>T;NM_001003652:exon5:c.520+1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.520+1G>T;ENST00000262160:exon5:c.520+1G>T;ENST00000356825:exon4:c.430+1G>T;ENST00000586040:exon3:c.430+1G>T;ENST00000591214:exon4:c.430+1G>T;ENST00000587269:exon6:c.520+1G>T;ENST00000586514:exon6:c.520+1G>T)	.	.	0.999986675681007	0.94
18	45395613	C	G	18	47869242	y	y	splicing	SMAD2(NM_005901:exon5:c.520+1G>C;NM_001135937:exon4:c.430+1G>C;NM_001003652:exon5:c.520+1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.520+1G>C;ENST00000262160:exon5:c.520+1G>C;ENST00000356825:exon4:c.430+1G>C;ENST00000586040:exon3:c.430+1G>C;ENST00000591214:exon4:c.430+1G>C;ENST00000587269:exon6:c.520+1G>C;ENST00000586514:exon6:c.520+1G>C)	.	.	0.999986675681007	0.94
18	45395613	C	T	18	47869242	y	y	splicing	SMAD2(NM_005901:exon5:c.520+1G>A;NM_001135937:exon4:c.430+1G>A;NM_001003652:exon5:c.520+1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.520+1G>A;ENST00000262160:exon5:c.520+1G>A;ENST00000356825:exon4:c.430+1G>A;ENST00000586040:exon3:c.430+1G>A;ENST00000591214:exon4:c.430+1G>A;ENST00000587269:exon6:c.520+1G>A;ENST00000586514:exon6:c.520+1G>A)	.	.	0.999986675681007	0.94
18	45395614	C	A	18	47869243	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.G430T:p.V144F;SMAD2:NM_005901:exon4:c.G520T:p.V174F;SMAD2:NM_001003652:exon4:c.G520T:p.V174F;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.G430T:p.V144F;ENSG00000175387:ENST00000591214:exon3:c.G430T:p.V144F;ENSG00000175387:ENST00000262160:exon4:c.G520T:p.V174F;ENSG00000175387:ENST00000587269:exon5:c.G520T:p.V174F;ENSG00000175387:ENST00000402690:exon4:c.G520T:p.V174F;ENSG00000175387:ENST00000586514:exon5:c.G520T:p.V174F;ENSG00000175387:ENST00000586040:exon2:c.G430T:p.V144F;	0.999959773321017	1.0
18	45395614	C	G	18	47869243	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.G430C:p.V144L;SMAD2:NM_005901:exon4:c.G520C:p.V174L;SMAD2:NM_001003652:exon4:c.G520C:p.V174L;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.G430C:p.V144L;ENSG00000175387:ENST00000591214:exon3:c.G430C:p.V144L;ENSG00000175387:ENST00000262160:exon4:c.G520C:p.V174L;ENSG00000175387:ENST00000587269:exon5:c.G520C:p.V174L;ENSG00000175387:ENST00000402690:exon4:c.G520C:p.V174L;ENSG00000175387:ENST00000586514:exon5:c.G520C:p.V174L;ENSG00000175387:ENST00000586040:exon2:c.G430C:p.V144L;	0.999993946944991	0.996
18	45395614	C	T	18	47869243	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.G430A:p.V144I;SMAD2:NM_005901:exon4:c.G520A:p.V174I;SMAD2:NM_001003652:exon4:c.G520A:p.V174I;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.G430A:p.V144I;ENSG00000175387:ENST00000591214:exon3:c.G430A:p.V144I;ENSG00000175387:ENST00000262160:exon4:c.G520A:p.V174I;ENSG00000175387:ENST00000587269:exon5:c.G520A:p.V174I;ENSG00000175387:ENST00000402690:exon4:c.G520A:p.V174I;ENSG00000175387:ENST00000586514:exon5:c.G520A:p.V174I;ENSG00000175387:ENST00000586040:exon2:c.G430A:p.V144I;	0.999791011073036	1.0
18	45395615	T	A	18	47869244	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon3:c.A429T:p.P143P;SMAD2:NM_005901:exon4:c.A519T:p.P173P;SMAD2:NM_001003652:exon4:c.A519T:p.P173P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.A429T:p.P143P;ENSG00000175387:ENST00000591214:exon3:c.A429T:p.P143P;ENSG00000175387:ENST00000262160:exon4:c.A519T:p.P173P;ENSG00000175387:ENST00000587269:exon5:c.A519T:p.P173P;ENSG00000175387:ENST00000402690:exon4:c.A519T:p.P173P;ENSG00000175387:ENST00000586514:exon5:c.A519T:p.P173P;ENSG00000175387:ENST00000586040:exon2:c.A429T:p.P143P;	0.948888696590613	0.656
18	45395615	T	C	18	47869244	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon3:c.A429G:p.P143P;SMAD2:NM_005901:exon4:c.A519G:p.P173P;SMAD2:NM_001003652:exon4:c.A519G:p.P173P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.A429G:p.P143P;ENSG00000175387:ENST00000591214:exon3:c.A429G:p.P143P;ENSG00000175387:ENST00000262160:exon4:c.A519G:p.P173P;ENSG00000175387:ENST00000587269:exon5:c.A519G:p.P173P;ENSG00000175387:ENST00000402690:exon4:c.A519G:p.P173P;ENSG00000175387:ENST00000586514:exon5:c.A519G:p.P173P;ENSG00000175387:ENST00000586040:exon2:c.A429G:p.P143P;	0.880785954986689	0.598
18	45395615	T	G	18	47869244	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon3:c.A429C:p.P143P;SMAD2:NM_005901:exon4:c.A519C:p.P173P;SMAD2:NM_001003652:exon4:c.A519C:p.P173P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.A429C:p.P143P;ENSG00000175387:ENST00000591214:exon3:c.A429C:p.P143P;ENSG00000175387:ENST00000262160:exon4:c.A519C:p.P173P;ENSG00000175387:ENST00000587269:exon5:c.A519C:p.P173P;ENSG00000175387:ENST00000402690:exon4:c.A519C:p.P173P;ENSG00000175387:ENST00000586514:exon5:c.A519C:p.P173P;ENSG00000175387:ENST00000586040:exon2:c.A429C:p.P143P;	0.843815605798163	0.552
18	45395616	G	A	18	47869245	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.C428T:p.P143L;SMAD2:NM_005901:exon4:c.C518T:p.P173L;SMAD2:NM_001003652:exon4:c.C518T:p.P173L;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.C428T:p.P143L;ENSG00000175387:ENST00000591214:exon3:c.C428T:p.P143L;ENSG00000175387:ENST00000262160:exon4:c.C518T:p.P173L;ENSG00000175387:ENST00000587269:exon5:c.C518T:p.P173L;ENSG00000175387:ENST00000402690:exon4:c.C518T:p.P173L;ENSG00000175387:ENST00000586514:exon5:c.C518T:p.P173L;ENSG00000175387:ENST00000586040:exon2:c.C428T:p.P143L;	0.998953679750249	0.89
18	45395616	G	C	18	47869245	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.C428G:p.P143R;SMAD2:NM_005901:exon4:c.C518G:p.P173R;SMAD2:NM_001003652:exon4:c.C518G:p.P173R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.C428G:p.P143R;ENSG00000175387:ENST00000591214:exon3:c.C428G:p.P143R;ENSG00000175387:ENST00000262160:exon4:c.C518G:p.P173R;ENSG00000175387:ENST00000587269:exon5:c.C518G:p.P173R;ENSG00000175387:ENST00000402690:exon4:c.C518G:p.P173R;ENSG00000175387:ENST00000586514:exon5:c.C518G:p.P173R;ENSG00000175387:ENST00000586040:exon2:c.C428G:p.P143R;	0.865697156005433	0.654
18	45395616	G	T	18	47869245	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.C428A:p.P143Q;SMAD2:NM_005901:exon4:c.C518A:p.P173Q;SMAD2:NM_001003652:exon4:c.C518A:p.P173Q;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.C428A:p.P143Q;ENSG00000175387:ENST00000591214:exon3:c.C428A:p.P143Q;ENSG00000175387:ENST00000262160:exon4:c.C518A:p.P173Q;ENSG00000175387:ENST00000587269:exon5:c.C518A:p.P173Q;ENSG00000175387:ENST00000402690:exon4:c.C518A:p.P173Q;ENSG00000175387:ENST00000586514:exon5:c.C518A:p.P173Q;ENSG00000175387:ENST00000586040:exon2:c.C428A:p.P143Q;	0.799608133553439	0.586
18	45395806	A	C	18	47869435	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.T238G:p.S80A;SMAD2:NM_005901:exon4:c.T328G:p.S110A;SMAD2:NM_001003652:exon4:c.T328G:p.S110A;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.T238G:p.S80A;ENSG00000175387:ENST00000591214:exon3:c.T238G:p.S80A;ENSG00000175387:ENST00000262160:exon4:c.T328G:p.S110A;ENSG00000175387:ENST00000587269:exon5:c.T328G:p.S110A;ENSG00000175387:ENST00000402690:exon4:c.T328G:p.S110A;ENSG00000175387:ENST00000587421:exon4:c.T328G:p.S110A;ENSG00000175387:ENST00000586514:exon5:c.T328G:p.S110A;ENSG00000175387:ENST00000586040:exon2:c.T238G:p.S80A;	0.301224150109823	0.508
18	45395806	A	G	18	47869435	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.T238C:p.S80P;SMAD2:NM_005901:exon4:c.T328C:p.S110P;SMAD2:NM_001003652:exon4:c.T328C:p.S110P;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.T238C:p.S80P;ENSG00000175387:ENST00000591214:exon3:c.T238C:p.S80P;ENSG00000175387:ENST00000262160:exon4:c.T328C:p.S110P;ENSG00000175387:ENST00000587269:exon5:c.T328C:p.S110P;ENSG00000175387:ENST00000402690:exon4:c.T328C:p.S110P;ENSG00000175387:ENST00000587421:exon4:c.T328C:p.S110P;ENSG00000175387:ENST00000586514:exon5:c.T328C:p.S110P;ENSG00000175387:ENST00000586040:exon2:c.T238C:p.S80P;	0.301224150109823	0.478
18	45395806	A	T	18	47869435	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.T238A:p.S80T;SMAD2:NM_005901:exon4:c.T328A:p.S110T;SMAD2:NM_001003652:exon4:c.T328A:p.S110T;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.T238A:p.S80T;ENSG00000175387:ENST00000591214:exon3:c.T238A:p.S80T;ENSG00000175387:ENST00000262160:exon4:c.T328A:p.S110T;ENSG00000175387:ENST00000587269:exon5:c.T328A:p.S110T;ENSG00000175387:ENST00000402690:exon4:c.T328A:p.S110T;ENSG00000175387:ENST00000587421:exon4:c.T328A:p.S110T;ENSG00000175387:ENST00000586514:exon5:c.T328A:p.S110T;ENSG00000175387:ENST00000586040:exon2:c.T238A:p.S80T;	0.285751415091403	0.512
18	45395807	C	A	18	47869436	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.G237T:p.R79S;SMAD2:NM_005901:exon4:c.G327T:p.R109S;SMAD2:NM_001003652:exon4:c.G327T:p.R109S;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.G237T:p.R79S;ENSG00000175387:ENST00000591214:exon3:c.G237T:p.R79S;ENSG00000175387:ENST00000262160:exon4:c.G327T:p.R109S;ENSG00000175387:ENST00000587269:exon5:c.G327T:p.R109S;ENSG00000175387:ENST00000402690:exon4:c.G327T:p.R109S;ENSG00000175387:ENST00000587421:exon4:c.G327T:p.R109S;ENSG00000175387:ENST00000586514:exon5:c.G327T:p.R109S;ENSG00000175387:ENST00000586040:exon2:c.G237T:p.R79S;	0.758843835234357	0.616
18	45395807	C	G	18	47869436	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon3:c.G237C:p.R79S;SMAD2:NM_005901:exon4:c.G327C:p.R109S;SMAD2:NM_001003652:exon4:c.G327C:p.R109S;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.G237C:p.R79S;ENSG00000175387:ENST00000591214:exon3:c.G237C:p.R79S;ENSG00000175387:ENST00000262160:exon4:c.G327C:p.R109S;ENSG00000175387:ENST00000587269:exon5:c.G327C:p.R109S;ENSG00000175387:ENST00000402690:exon4:c.G327C:p.R109S;ENSG00000175387:ENST00000587421:exon4:c.G327C:p.R109S;ENSG00000175387:ENST00000586514:exon5:c.G327C:p.R109S;ENSG00000175387:ENST00000586040:exon2:c.G237C:p.R79S;	0.051142944593683	0.514
18	45395807	C	T	18	47869436	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon3:c.G237A:p.R79R;SMAD2:NM_005901:exon4:c.G327A:p.R109R;SMAD2:NM_001003652:exon4:c.G327A:p.R109R;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000356825:exon3:c.G237A:p.R79R;ENSG00000175387:ENST00000591214:exon3:c.G237A:p.R79R;ENSG00000175387:ENST00000262160:exon4:c.G327A:p.R109R;ENSG00000175387:ENST00000587269:exon5:c.G327A:p.R109R;ENSG00000175387:ENST00000402690:exon4:c.G327A:p.R109R;ENSG00000175387:ENST00000587421:exon4:c.G327A:p.R109R;ENSG00000175387:ENST00000586514:exon5:c.G327A:p.R109R;ENSG00000175387:ENST00000586040:exon2:c.G237A:p.R79R;	0.00591620123521736	0.17
18	45395808	C	A	18	47869437	y	y	splicing	SMAD2(NM_005901:exon5:c.327-1G>T;NM_001135937:exon4:c.237-1G>T;NM_001003652:exon5:c.327-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.327-1G>T;ENST00000262160:exon5:c.327-1G>T;ENST00000356825:exon4:c.237-1G>T;ENST00000586040:exon3:c.237-1G>T;ENST00000591214:exon4:c.237-1G>T;ENST00000587269:exon6:c.327-1G>T;ENST00000586514:exon6:c.327-1G>T;ENST00000587421:exon5:c.327-1G>T)	.	.	0.999986675681007	0.932
18	45395808	C	G	18	47869437	y	y	splicing	SMAD2(NM_005901:exon5:c.327-1G>C;NM_001135937:exon4:c.237-1G>C;NM_001003652:exon5:c.327-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.327-1G>C;ENST00000262160:exon5:c.327-1G>C;ENST00000356825:exon4:c.237-1G>C;ENST00000586040:exon3:c.237-1G>C;ENST00000591214:exon4:c.237-1G>C;ENST00000587269:exon6:c.327-1G>C;ENST00000586514:exon6:c.327-1G>C;ENST00000587421:exon5:c.327-1G>C)	.	.	0.999986675681007	0.932
18	45395808	C	T	18	47869437	y	y	splicing	SMAD2(NM_005901:exon5:c.327-1G>A;NM_001135937:exon4:c.237-1G>A;NM_001003652:exon5:c.327-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.327-1G>A;ENST00000262160:exon5:c.327-1G>A;ENST00000356825:exon4:c.237-1G>A;ENST00000586040:exon3:c.237-1G>A;ENST00000591214:exon4:c.237-1G>A;ENST00000587269:exon6:c.327-1G>A;ENST00000586514:exon6:c.327-1G>A;ENST00000587421:exon5:c.327-1G>A)	.	.	0.999986675681007	0.932
18	45395809	T	A	18	47869438	y	y	splicing	SMAD2(NM_005901:exon5:c.327-2A>T;NM_001135937:exon4:c.237-2A>T;NM_001003652:exon5:c.327-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.327-2A>T;ENST00000262160:exon5:c.327-2A>T;ENST00000356825:exon4:c.237-2A>T;ENST00000586040:exon3:c.237-2A>T;ENST00000591214:exon4:c.237-2A>T;ENST00000587269:exon6:c.327-2A>T;ENST00000586514:exon6:c.327-2A>T;ENST00000587421:exon5:c.327-2A>T)	.	.	0.999988247793601	0.926
18	45395809	T	C	18	47869438	y	y	splicing	SMAD2(NM_005901:exon5:c.327-2A>G;NM_001135937:exon4:c.237-2A>G;NM_001003652:exon5:c.327-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.327-2A>G;ENST00000262160:exon5:c.327-2A>G;ENST00000356825:exon4:c.237-2A>G;ENST00000586040:exon3:c.237-2A>G;ENST00000591214:exon4:c.237-2A>G;ENST00000587269:exon6:c.327-2A>G;ENST00000586514:exon6:c.327-2A>G;ENST00000587421:exon5:c.327-2A>G)	.	.	0.999988247793601	0.926
18	45395809	T	G	18	47869438	y	y	splicing	SMAD2(NM_005901:exon5:c.327-2A>C;NM_001135937:exon4:c.237-2A>C;NM_001003652:exon5:c.327-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon5:c.327-2A>C;ENST00000262160:exon5:c.327-2A>C;ENST00000356825:exon4:c.237-2A>C;ENST00000586040:exon3:c.237-2A>C;ENST00000591214:exon4:c.237-2A>C;ENST00000587269:exon6:c.327-2A>C;ENST00000586514:exon6:c.327-2A>C;ENST00000587421:exon5:c.327-2A>C)	.	.	0.999988247793601	0.926
18	45395810	G	A	18	47869439	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.7110142242672E-4	0.098
18	45395810	G	C	18	47869439	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.996137713463744	0.62
18	45395810	G	T	18	47869439	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.286679727287644	0.386
18	45395811	T	A	18	47869440	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.06812688720013E-5	0.004
18	45395811	T	C	18	47869440	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.463063648938169	0.65
18	45395811	T	G	18	47869440	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.87629015079267E-5	0.006
18	45395812	T	A	18	47869441	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.66576784750739E-5	0.002
18	45395812	T	C	18	47869441	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.74586225159984E-5	0.0
18	45395812	T	G	18	47869441	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.88330084137988E-5	0.006
18	45395813	G	A	18	47869442	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.49143622021812E-5	0.012
18	45395813	G	C	18	47869442	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00128620720946496	0.156
18	45395813	G	T	18	47869442	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00151781649641865	0.196
18	45395814	G	A	18	47869443	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.75205821314194E-4	0.006
18	45395814	G	C	18	47869443	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0171690180885899	0.152
18	45395814	G	T	18	47869443	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0107336519353915	0.138
18	45395815	G	A	18	47869444	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.38759742572971E-4	0.006
18	45395815	G	C	18	47869444	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.62532785112258E-4	0.068
18	45395815	G	T	18	47869444	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00224635957270834	0.096
18	45395816	A	C	18	47869445	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.631276220115288	0.6
18	45395816	A	G	18	47869445	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00137286200559365	0.024
18	45395816	A	T	18	47869445	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.94495924083089	0.794
18	45395817	A	C	18	47869446	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0160762753921834	0.476
18	45395817	A	G	18	47869446	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.94868268933492E-4	0.008
18	45395817	A	T	18	47869446	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0874332054495638	0.44
18	45395818	G	A	18	47869447	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.12417004755939E-5	0.002
18	45395818	G	C	18	47869447	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.85331771479181E-4	0.01
18	45395818	G	T	18	47869447	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00177652796874457	0.04
18	45395819	C	A	18	47869448	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.77018750896902E-4	0.054
18	45395819	C	G	18	47869448	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00109709586943239	0.038
18	45395819	C	T	18	47869448	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00514615845390509	0.142
18	45396838	A	C	18	47870467	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00419808543927368	0.03
18	45396838	A	G	18	47870467	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00523594437078446	0.028
18	45396838	A	T	18	47870467	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00917540930556089	0.032
18	45396839	T	A	18	47870468	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0495679178625107	0.112
18	45396839	T	C	18	47870468	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0235821734958509	0.074
18	45396839	T	G	18	47870468	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00648632429989759	0.03
18	45396840	A	C	18	47870469	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.681020426003438	0.478
18	45396840	A	G	18	47870469	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.844299172812536	0.638
18	45396840	A	T	18	47870469	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.976184440998758	0.76
18	45396841	T	A	18	47870470	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0140203893447619	0.17
18	45396841	T	C	18	47870470	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.71446758891265E-4	0.068
18	45396841	T	G	18	47870470	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00608970513063747	0.106
18	45396842	T	A	18	47870471	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.997762402909807	0.884
18	45396842	T	C	18	47870471	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.997693414071559	0.862
18	45396842	T	G	18	47870471	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.96006046796806	0.76
18	45396843	C	A	18	47870472	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.987449663967097	0.816
18	45396843	C	G	18	47870472	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998798679871594	0.766
18	45396843	C	T	18	47870472	y	n	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.30407155643265E-4	0.052
18	45396844	A	C	18	47870473	y	n	splicing	SMAD2(NM_005901:exon4:c.326+2T>G;NM_001003652:exon4:c.326+2T>G)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon4:c.326+2T>G;ENST00000262160:exon4:c.326+2T>G;ENST00000587269:exon5:c.326+2T>G;ENST00000586514:exon5:c.326+2T>G;ENST00000587421:exon4:c.326+2T>G)	unknown	UNKNOWN	0.999988247793601	0.932
18	45396844	A	G	18	47870473	y	n	splicing	SMAD2(NM_005901:exon4:c.326+2T>C;NM_001003652:exon4:c.326+2T>C)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon4:c.326+2T>C;ENST00000262160:exon4:c.326+2T>C;ENST00000587269:exon5:c.326+2T>C;ENST00000586514:exon5:c.326+2T>C;ENST00000587421:exon4:c.326+2T>C)	unknown	UNKNOWN	0.999945827492243	0.864
18	45396844	A	T	18	47870473	y	n	splicing	SMAD2(NM_005901:exon4:c.326+2T>A;NM_001003652:exon4:c.326+2T>A)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon4:c.326+2T>A;ENST00000262160:exon4:c.326+2T>A;ENST00000587269:exon5:c.326+2T>A;ENST00000586514:exon5:c.326+2T>A;ENST00000587421:exon4:c.326+2T>A)	unknown	UNKNOWN	0.999988247793601	0.932
18	45396845	C	A	18	47870474	y	n	splicing	SMAD2(NM_005901:exon4:c.326+1G>T;NM_001003652:exon4:c.326+1G>T)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon4:c.326+1G>T;ENST00000262160:exon4:c.326+1G>T;ENST00000587269:exon5:c.326+1G>T;ENST00000586514:exon5:c.326+1G>T;ENST00000587421:exon4:c.326+1G>T)	nonsynonymous SNV	ENSG00000175387:ENST00000589877:exon4:c.G327T:p.R109S;	0.999990361384395	0.938
18	45396845	C	G	18	47870474	y	n	splicing	SMAD2(NM_005901:exon4:c.326+1G>C;NM_001003652:exon4:c.326+1G>C)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon4:c.326+1G>C;ENST00000262160:exon4:c.326+1G>C;ENST00000587269:exon5:c.326+1G>C;ENST00000586514:exon5:c.326+1G>C;ENST00000587421:exon4:c.326+1G>C)	nonsynonymous SNV	ENSG00000175387:ENST00000589877:exon4:c.G327C:p.R109S;	0.999990361384395	0.938
18	45396845	C	T	18	47870474	y	n	splicing	SMAD2(NM_005901:exon4:c.326+1G>A;NM_001003652:exon4:c.326+1G>A)	.	.	exonic;splicing	ENSG00000175387;ENSG00000175387(ENST00000402690:exon4:c.326+1G>A;ENST00000262160:exon4:c.326+1G>A;ENST00000587269:exon5:c.326+1G>A;ENST00000586514:exon5:c.326+1G>A;ENST00000587421:exon4:c.326+1G>A)	synonymous SNV	ENSG00000175387:ENST00000589877:exon4:c.G327A:p.R109R;	0.999990361384395	0.938
18	45396846	C	A	18	47870475	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.G326T:p.R109M;SMAD2:NM_001003652:exon3:c.G326T:p.R109M;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000262160:exon3:c.G326T:p.R109M;ENSG00000175387:ENST00000587269:exon4:c.G326T:p.R109M;ENSG00000175387:ENST00000402690:exon3:c.G326T:p.R109M;ENSG00000175387:ENST00000587421:exon3:c.G326T:p.R109M;ENSG00000175387:ENST00000586514:exon4:c.G326T:p.R109M;ENSG00000175387:ENST00000589877:exon4:c.G326T:p.R109M;	0.999993018555097	1.0
18	45396846	C	G	18	47870475	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.G326C:p.R109T;SMAD2:NM_001003652:exon3:c.G326C:p.R109T;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000262160:exon3:c.G326C:p.R109T;ENSG00000175387:ENST00000587269:exon4:c.G326C:p.R109T;ENSG00000175387:ENST00000402690:exon3:c.G326C:p.R109T;ENSG00000175387:ENST00000587421:exon3:c.G326C:p.R109T;ENSG00000175387:ENST00000586514:exon4:c.G326C:p.R109T;ENSG00000175387:ENST00000589877:exon4:c.G326C:p.R109T;	0.999998122414291	1.0
18	45396846	C	T	18	47870475	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.G326A:p.R109K;SMAD2:NM_001003652:exon3:c.G326A:p.R109K;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000262160:exon3:c.G326A:p.R109K;ENSG00000175387:ENST00000587269:exon4:c.G326A:p.R109K;ENSG00000175387:ENST00000402690:exon3:c.G326A:p.R109K;ENSG00000175387:ENST00000587421:exon3:c.G326A:p.R109K;ENSG00000175387:ENST00000586514:exon4:c.G326A:p.R109K;ENSG00000175387:ENST00000589877:exon4:c.G326A:p.R109K;	0.999990965192827	0.988
18	45396847	T	A	18	47870476	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.A325T:p.R109W;SMAD2:NM_001003652:exon3:c.A325T:p.R109W;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000262160:exon3:c.A325T:p.R109W;ENSG00000175387:ENST00000587269:exon4:c.A325T:p.R109W;ENSG00000175387:ENST00000402690:exon3:c.A325T:p.R109W;ENSG00000175387:ENST00000587421:exon3:c.A325T:p.R109W;ENSG00000175387:ENST00000586514:exon4:c.A325T:p.R109W;ENSG00000175387:ENST00000589877:exon4:c.A325T:p.R109W;	0.999923984245419	0.994
18	45396847	T	C	18	47870476	y	n	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.A325G:p.R109G;SMAD2:NM_001003652:exon3:c.A325G:p.R109G;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000262160:exon3:c.A325G:p.R109G;ENSG00000175387:ENST00000587269:exon4:c.A325G:p.R109G;ENSG00000175387:ENST00000402690:exon3:c.A325G:p.R109G;ENSG00000175387:ENST00000587421:exon3:c.A325G:p.R109G;ENSG00000175387:ENST00000586514:exon4:c.A325G:p.R109G;ENSG00000175387:ENST00000589877:exon4:c.A325G:p.R109G;	0.999774305184665	0.982
18	45396847	T	G	18	47870476	y	n	exonic	SMAD2	synonymous SNV	SMAD2:NM_005901:exon3:c.A325C:p.R109R;SMAD2:NM_001003652:exon3:c.A325C:p.R109R;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000262160:exon3:c.A325C:p.R109R;ENSG00000175387:ENST00000587269:exon4:c.A325C:p.R109R;ENSG00000175387:ENST00000402690:exon3:c.A325C:p.R109R;ENSG00000175387:ENST00000587421:exon3:c.A325C:p.R109R;ENSG00000175387:ENST00000586514:exon4:c.A325C:p.R109R;ENSG00000175387:ENST00000589877:exon4:c.A325C:p.R109R;	0.992006043064484	0.916
18	45396848	G	A	18	47870477	y	n	exonic	SMAD2	synonymous SNV	SMAD2:NM_005901:exon3:c.C324T:p.T108T;SMAD2:NM_001003652:exon3:c.C324T:p.T108T;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.C324T:p.T108T;ENSG00000175387:ENST00000262160:exon3:c.C324T:p.T108T;ENSG00000175387:ENST00000587269:exon4:c.C324T:p.T108T;ENSG00000175387:ENST00000402690:exon3:c.C324T:p.T108T;ENSG00000175387:ENST00000587421:exon3:c.C324T:p.T108T;ENSG00000175387:ENST00000586514:exon4:c.C324T:p.T108T;ENSG00000175387:ENST00000589877:exon4:c.C324T:p.T108T;	0.991720565630931	0.854
18	45396848	G	C	18	47870477	y	n	exonic	SMAD2	synonymous SNV	SMAD2:NM_005901:exon3:c.C324G:p.T108T;SMAD2:NM_001003652:exon3:c.C324G:p.T108T;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.C324G:p.T108T;ENSG00000175387:ENST00000262160:exon3:c.C324G:p.T108T;ENSG00000175387:ENST00000587269:exon4:c.C324G:p.T108T;ENSG00000175387:ENST00000402690:exon3:c.C324G:p.T108T;ENSG00000175387:ENST00000587421:exon3:c.C324G:p.T108T;ENSG00000175387:ENST00000586514:exon4:c.C324G:p.T108T;ENSG00000175387:ENST00000589877:exon4:c.C324G:p.T108T;	0.178218401075047	0.346
18	45396848	G	T	18	47870477	y	n	exonic	SMAD2	synonymous SNV	SMAD2:NM_005901:exon3:c.C324A:p.T108T;SMAD2:NM_001003652:exon3:c.C324A:p.T108T;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.C324A:p.T108T;ENSG00000175387:ENST00000262160:exon3:c.C324A:p.T108T;ENSG00000175387:ENST00000587269:exon4:c.C324A:p.T108T;ENSG00000175387:ENST00000402690:exon3:c.C324A:p.T108T;ENSG00000175387:ENST00000587421:exon3:c.C324A:p.T108T;ENSG00000175387:ENST00000586514:exon4:c.C324A:p.T108T;ENSG00000175387:ENST00000589877:exon4:c.C324A:p.T108T;	0.0669228432257189	0.214
18	45396934	T	A	18	47870563	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.A238T:p.T80S;SMAD2:NM_001003652:exon3:c.A238T:p.T80S;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.A238T:p.T80S;ENSG00000175387:ENST00000262160:exon3:c.A238T:p.T80S;ENSG00000175387:ENST00000587269:exon4:c.A238T:p.T80S;ENSG00000175387:ENST00000402690:exon3:c.A238T:p.T80S;ENSG00000175387:ENST00000587421:exon3:c.A238T:p.T80S;ENSG00000175387:ENST00000586514:exon4:c.A238T:p.T80S;ENSG00000175387:ENST00000589877:exon4:c.A238T:p.T80S;	2.98488056049831E-4	0.012
18	45396934	T	C	18	47870563	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.A238G:p.T80A;SMAD2:NM_001003652:exon3:c.A238G:p.T80A;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.A238G:p.T80A;ENSG00000175387:ENST00000262160:exon3:c.A238G:p.T80A;ENSG00000175387:ENST00000587269:exon4:c.A238G:p.T80A;ENSG00000175387:ENST00000402690:exon3:c.A238G:p.T80A;ENSG00000175387:ENST00000587421:exon3:c.A238G:p.T80A;ENSG00000175387:ENST00000586514:exon4:c.A238G:p.T80A;ENSG00000175387:ENST00000589877:exon4:c.A238G:p.T80A;	0.00132835747766671	0.05
18	45396934	T	G	18	47870563	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.A238C:p.T80P;SMAD2:NM_001003652:exon3:c.A238C:p.T80P;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.A238C:p.T80P;ENSG00000175387:ENST00000262160:exon3:c.A238C:p.T80P;ENSG00000175387:ENST00000587269:exon4:c.A238C:p.T80P;ENSG00000175387:ENST00000402690:exon3:c.A238C:p.T80P;ENSG00000175387:ENST00000587421:exon3:c.A238C:p.T80P;ENSG00000175387:ENST00000586514:exon4:c.A238C:p.T80P;ENSG00000175387:ENST00000589877:exon4:c.A238C:p.T80P;	0.00160756102808	0.136
18	45396935	G	A	18	47870564	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_005901:exon3:c.C237T:p.S79S;SMAD2:NM_001003652:exon3:c.C237T:p.S79S;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.C237T:p.S79S;ENSG00000175387:ENST00000262160:exon3:c.C237T:p.S79S;ENSG00000175387:ENST00000587269:exon4:c.C237T:p.S79S;ENSG00000175387:ENST00000402690:exon3:c.C237T:p.S79S;ENSG00000175387:ENST00000587421:exon3:c.C237T:p.S79S;ENSG00000175387:ENST00000586514:exon4:c.C237T:p.S79S;ENSG00000175387:ENST00000589877:exon4:c.C237T:p.S79S;	0.114941638365321	0.412
18	45396935	G	C	18	47870564	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.C237G:p.S79R;SMAD2:NM_001003652:exon3:c.C237G:p.S79R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.C237G:p.S79R;ENSG00000175387:ENST00000262160:exon3:c.C237G:p.S79R;ENSG00000175387:ENST00000587269:exon4:c.C237G:p.S79R;ENSG00000175387:ENST00000402690:exon3:c.C237G:p.S79R;ENSG00000175387:ENST00000587421:exon3:c.C237G:p.S79R;ENSG00000175387:ENST00000586514:exon4:c.C237G:p.S79R;ENSG00000175387:ENST00000589877:exon4:c.C237G:p.S79R;	0.00421500474919015	0.124
18	45396935	G	T	18	47870564	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon3:c.C237A:p.S79R;SMAD2:NM_001003652:exon3:c.C237A:p.S79R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon5:c.C237A:p.S79R;ENSG00000175387:ENST00000262160:exon3:c.C237A:p.S79R;ENSG00000175387:ENST00000587269:exon4:c.C237A:p.S79R;ENSG00000175387:ENST00000402690:exon3:c.C237A:p.S79R;ENSG00000175387:ENST00000587421:exon3:c.C237A:p.S79R;ENSG00000175387:ENST00000586514:exon4:c.C237A:p.S79R;ENSG00000175387:ENST00000589877:exon4:c.C237A:p.S79R;	0.00220421173486351	0.084
18	45396936	C	A	18	47870565	y	y	splicing	SMAD2(NM_005901:exon4:c.237-1G>T;NM_001003652:exon4:c.237-1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon4:c.237-1G>T;ENST00000262160:exon4:c.237-1G>T;ENST00000587269:exon5:c.237-1G>T;ENST00000586514:exon5:c.237-1G>T;ENST00000587421:exon4:c.237-1G>T;ENST00000589877:exon5:c.237-1G>T;ENST00000585978:exon6:c.237-1G>T)	.	.	0.999992451903337	0.908
18	45396936	C	G	18	47870565	y	y	splicing	SMAD2(NM_005901:exon4:c.237-1G>C;NM_001003652:exon4:c.237-1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon4:c.237-1G>C;ENST00000262160:exon4:c.237-1G>C;ENST00000587269:exon5:c.237-1G>C;ENST00000586514:exon5:c.237-1G>C;ENST00000587421:exon4:c.237-1G>C;ENST00000589877:exon5:c.237-1G>C;ENST00000585978:exon6:c.237-1G>C)	.	.	0.999992451903337	0.908
18	45396936	C	T	18	47870565	y	y	splicing	SMAD2(NM_005901:exon4:c.237-1G>A;NM_001003652:exon4:c.237-1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon4:c.237-1G>A;ENST00000262160:exon4:c.237-1G>A;ENST00000587269:exon5:c.237-1G>A;ENST00000586514:exon5:c.237-1G>A;ENST00000587421:exon4:c.237-1G>A;ENST00000589877:exon5:c.237-1G>A;ENST00000585978:exon6:c.237-1G>A)	.	.	0.999992451903337	0.908
18	45396937	T	A	18	47870566	y	y	splicing	SMAD2(NM_005901:exon4:c.237-2A>T;NM_001003652:exon4:c.237-2A>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon4:c.237-2A>T;ENST00000262160:exon4:c.237-2A>T;ENST00000587269:exon5:c.237-2A>T;ENST00000586514:exon5:c.237-2A>T;ENST00000587421:exon4:c.237-2A>T;ENST00000589877:exon5:c.237-2A>T;ENST00000585978:exon6:c.237-2A>T)	.	.	0.999966568635832	0.914
18	45396937	T	C	18	47870566	y	y	splicing	SMAD2(NM_005901:exon4:c.237-2A>G;NM_001003652:exon4:c.237-2A>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon4:c.237-2A>G;ENST00000262160:exon4:c.237-2A>G;ENST00000587269:exon5:c.237-2A>G;ENST00000586514:exon5:c.237-2A>G;ENST00000587421:exon4:c.237-2A>G;ENST00000589877:exon5:c.237-2A>G;ENST00000585978:exon6:c.237-2A>G)	.	.	0.999966568635832	0.914
18	45396937	T	G	18	47870566	y	y	splicing	SMAD2(NM_005901:exon4:c.237-2A>C;NM_001003652:exon4:c.237-2A>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon4:c.237-2A>C;ENST00000262160:exon4:c.237-2A>C;ENST00000587269:exon5:c.237-2A>C;ENST00000586514:exon5:c.237-2A>C;ENST00000587421:exon4:c.237-2A>C;ENST00000589877:exon5:c.237-2A>C;ENST00000585978:exon6:c.237-2A>C)	.	.	0.999966568635832	0.914
18	45396938	G	A	18	47870567	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0141129067258176	0.184
18	45396938	G	C	18	47870567	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999586554758344	0.848
18	45396938	G	T	18	47870567	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.975951304194495	0.866
18	45396939	T	A	18	47870568	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00872056899635209	0.11
18	45396939	T	C	18	47870568	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.49734597290773E-4	0.036
18	45396939	T	G	18	47870568	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00271712030667343	0.052
18	45396940	G	A	18	47870569	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00364216526662125	0.078
18	45396940	G	C	18	47870569	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.236068097637038	0.378
18	45396940	G	T	18	47870569	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0785555609965969	0.334
18	45396941	C	A	18	47870570	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00106587101831745	0.074
18	45396941	C	G	18	47870570	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00106587101831745	0.074
18	45396941	C	T	18	47870570	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00598176000543008	0.084
18	45396942	A	C	18	47870571	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999581947609066	0.96
18	45396942	A	G	18	47870571	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0094377959637318	0.172
18	45396942	A	T	18	47870571	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999210613943326	0.946
18	45396943	T	A	18	47870572	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.93263881638447E-4	0.03
18	45396943	T	C	18	47870572	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00334620440313288	0.104
18	45396943	T	G	18	47870572	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.26121570608074E-4	0.03
18	45396944	A	C	18	47870573	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.99881650553071	0.856
18	45396944	A	G	18	47870573	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.374932778724718	0.496
18	45396944	A	T	18	47870573	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.998450693966765	0.862
18	45396945	A	C	18	47870574	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.544620305870911	0.68
18	45396945	A	G	18	47870574	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00230512169654782	0.112
18	45396945	A	T	18	47870574	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.983097252669088	0.86
18	45396946	A	C	18	47870575	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999887934301562	0.96
18	45396946	A	G	18	47870575	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.735639899683437	0.602
18	45396946	A	T	18	47870575	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.962633368124989	0.852
18	45396947	T	A	18	47870576	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.720737285000574	0.614
18	45396947	T	C	18	47870576	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999844082346865	0.93
18	45396947	T	G	18	47870576	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.758245957793753	0.624
18	45422884	A	C	18	47896513	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.00238715200698E-5	0.0
18	45422884	A	G	18	47896513	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.49595736736007E-6	0.0
18	45422884	A	T	18	47896513	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.08159923002108E-5	0.0
18	45422885	A	C	18	47896514	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.68823696380418E-5	0.0
18	45422885	A	G	18	47896514	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.50959006895584E-5	0.0
18	45422885	A	T	18	47896514	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.6128894829304E-5	0.0
18	45422886	A	C	18	47896515	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.74402232872583E-4	0.084
18	45422886	A	G	18	47896515	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00506285253430696	0.094
18	45422886	A	T	18	47896515	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00189984545359154	0.136
18	45422887	C	A	18	47896516	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.940572425623768	0.604
18	45422887	C	G	18	47896516	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.91593301291772	0.556
18	45422887	C	T	18	47896516	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.888539346062052	0.626
18	45422888	T	A	18	47896517	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.652236527757993	0.522
18	45422888	T	C	18	47896517	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.664075184963712	0.49
18	45422888	T	G	18	47896517	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.417993606092039	0.518
18	45422889	T	A	18	47896518	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.251162573834843	0.478
18	45422889	T	C	18	47896518	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.12698652580062E-4	0.032
18	45422889	T	G	18	47896518	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.371399269433225	0.528
18	45422890	A	C	18	47896519	y	y	splicing	SMAD2(NM_005901:exon3:c.236+2T>G;NM_001135937:exon3:c.236+2T>G;NM_001003652:exon3:c.236+2T>G)	.	.	splicing	ENSG00000175387(ENST00000402690:exon3:c.236+2T>G;ENST00000262160:exon3:c.236+2T>G;ENST00000356825:exon3:c.236+2T>G;ENST00000586040:exon2:c.236+2T>G;ENST00000591214:exon3:c.236+2T>G;ENST00000587269:exon4:c.236+2T>G;ENST00000586514:exon4:c.236+2T>G;ENST00000587421:exon3:c.236+2T>G;ENST00000589877:exon4:c.236+2T>G;ENST00000585978:exon5:c.236+2T>G)	.	.	0.999988247793601	0.928
18	45422890	A	G	18	47896519	y	y	splicing	SMAD2(NM_005901:exon3:c.236+2T>C;NM_001135937:exon3:c.236+2T>C;NM_001003652:exon3:c.236+2T>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon3:c.236+2T>C;ENST00000262160:exon3:c.236+2T>C;ENST00000356825:exon3:c.236+2T>C;ENST00000586040:exon2:c.236+2T>C;ENST00000591214:exon3:c.236+2T>C;ENST00000587269:exon4:c.236+2T>C;ENST00000586514:exon4:c.236+2T>C;ENST00000587421:exon3:c.236+2T>C;ENST00000589877:exon4:c.236+2T>C;ENST00000585978:exon5:c.236+2T>C)	.	.	0.992286765165952	0.618
18	45422890	A	T	18	47896519	y	y	splicing	SMAD2(NM_005901:exon3:c.236+2T>A;NM_001135937:exon3:c.236+2T>A;NM_001003652:exon3:c.236+2T>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon3:c.236+2T>A;ENST00000262160:exon3:c.236+2T>A;ENST00000356825:exon3:c.236+2T>A;ENST00000586040:exon2:c.236+2T>A;ENST00000591214:exon3:c.236+2T>A;ENST00000587269:exon4:c.236+2T>A;ENST00000586514:exon4:c.236+2T>A;ENST00000587421:exon3:c.236+2T>A;ENST00000589877:exon4:c.236+2T>A;ENST00000585978:exon5:c.236+2T>A)	.	.	0.999988247793601	0.928
18	45422891	C	A	18	47896520	y	y	splicing	SMAD2(NM_005901:exon3:c.236+1G>T;NM_001135937:exon3:c.236+1G>T;NM_001003652:exon3:c.236+1G>T)	.	.	splicing	ENSG00000175387(ENST00000402690:exon3:c.236+1G>T;ENST00000262160:exon3:c.236+1G>T;ENST00000356825:exon3:c.236+1G>T;ENST00000586040:exon2:c.236+1G>T;ENST00000591214:exon3:c.236+1G>T;ENST00000587269:exon4:c.236+1G>T;ENST00000586514:exon4:c.236+1G>T;ENST00000587421:exon3:c.236+1G>T;ENST00000589877:exon4:c.236+1G>T;ENST00000585978:exon5:c.236+1G>T)	.	.	0.999986675681007	0.928
18	45422891	C	G	18	47896520	y	y	splicing	SMAD2(NM_005901:exon3:c.236+1G>C;NM_001135937:exon3:c.236+1G>C;NM_001003652:exon3:c.236+1G>C)	.	.	splicing	ENSG00000175387(ENST00000402690:exon3:c.236+1G>C;ENST00000262160:exon3:c.236+1G>C;ENST00000356825:exon3:c.236+1G>C;ENST00000586040:exon2:c.236+1G>C;ENST00000591214:exon3:c.236+1G>C;ENST00000587269:exon4:c.236+1G>C;ENST00000586514:exon4:c.236+1G>C;ENST00000587421:exon3:c.236+1G>C;ENST00000589877:exon4:c.236+1G>C;ENST00000585978:exon5:c.236+1G>C)	.	.	0.999986675681007	0.928
18	45422891	C	T	18	47896520	y	y	splicing	SMAD2(NM_005901:exon3:c.236+1G>A;NM_001135937:exon3:c.236+1G>A;NM_001003652:exon3:c.236+1G>A)	.	.	splicing	ENSG00000175387(ENST00000402690:exon3:c.236+1G>A;ENST00000262160:exon3:c.236+1G>A;ENST00000356825:exon3:c.236+1G>A;ENST00000586040:exon2:c.236+1G>A;ENST00000591214:exon3:c.236+1G>A;ENST00000587269:exon4:c.236+1G>A;ENST00000586514:exon4:c.236+1G>A;ENST00000587421:exon3:c.236+1G>A;ENST00000589877:exon4:c.236+1G>A;ENST00000585978:exon5:c.236+1G>A)	.	.	0.999986675681007	0.928
18	45422892	C	A	18	47896521	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon2:c.G236T:p.R79M;SMAD2:NM_005901:exon2:c.G236T:p.S79I;SMAD2:NM_001003652:exon2:c.G236T:p.S79I;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.G236T:p.S79I;ENSG00000175387:ENST00000356825:exon2:c.G236T:p.R79M;ENSG00000175387:ENST00000591214:exon2:c.G236T:p.R79M;ENSG00000175387:ENST00000262160:exon2:c.G236T:p.S79I;ENSG00000175387:ENST00000587269:exon3:c.G236T:p.S79I;ENSG00000175387:ENST00000402690:exon2:c.G236T:p.S79I;ENSG00000175387:ENST00000587421:exon2:c.G236T:p.S79I;ENSG00000175387:ENST00000586514:exon3:c.G236T:p.S79I;ENSG00000175387:ENST00000586040:exon1:c.G236T:p.R79M;ENSG00000175387:ENST00000589877:exon3:c.G236T:p.S79I;	0.999621731517428	0.898
18	45422892	C	G	18	47896521	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon2:c.G236C:p.R79T;SMAD2:NM_005901:exon2:c.G236C:p.S79T;SMAD2:NM_001003652:exon2:c.G236C:p.S79T;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.G236C:p.S79T;ENSG00000175387:ENST00000356825:exon2:c.G236C:p.R79T;ENSG00000175387:ENST00000591214:exon2:c.G236C:p.R79T;ENSG00000175387:ENST00000262160:exon2:c.G236C:p.S79T;ENSG00000175387:ENST00000587269:exon3:c.G236C:p.S79T;ENSG00000175387:ENST00000402690:exon2:c.G236C:p.S79T;ENSG00000175387:ENST00000587421:exon2:c.G236C:p.S79T;ENSG00000175387:ENST00000586514:exon3:c.G236C:p.S79T;ENSG00000175387:ENST00000586040:exon1:c.G236C:p.R79T;ENSG00000175387:ENST00000589877:exon3:c.G236C:p.S79T;	0.998299115821203	0.898
18	45422892	C	T	18	47896521	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon2:c.G236A:p.R79K;SMAD2:NM_005901:exon2:c.G236A:p.S79N;SMAD2:NM_001003652:exon2:c.G236A:p.S79N;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.G236A:p.S79N;ENSG00000175387:ENST00000356825:exon2:c.G236A:p.R79K;ENSG00000175387:ENST00000591214:exon2:c.G236A:p.R79K;ENSG00000175387:ENST00000262160:exon2:c.G236A:p.S79N;ENSG00000175387:ENST00000587269:exon3:c.G236A:p.S79N;ENSG00000175387:ENST00000402690:exon2:c.G236A:p.S79N;ENSG00000175387:ENST00000587421:exon2:c.G236A:p.S79N;ENSG00000175387:ENST00000586514:exon3:c.G236A:p.S79N;ENSG00000175387:ENST00000586040:exon1:c.G236A:p.R79K;ENSG00000175387:ENST00000589877:exon3:c.G236A:p.S79N;	0.998513873516951	0.85
18	45422893	T	A	18	47896522	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon2:c.A235T:p.R79W;SMAD2:NM_005901:exon2:c.A235T:p.S79C;SMAD2:NM_001003652:exon2:c.A235T:p.S79C;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.A235T:p.S79C;ENSG00000175387:ENST00000356825:exon2:c.A235T:p.R79W;ENSG00000175387:ENST00000591214:exon2:c.A235T:p.R79W;ENSG00000175387:ENST00000262160:exon2:c.A235T:p.S79C;ENSG00000175387:ENST00000587269:exon3:c.A235T:p.S79C;ENSG00000175387:ENST00000402690:exon2:c.A235T:p.S79C;ENSG00000175387:ENST00000587421:exon2:c.A235T:p.S79C;ENSG00000175387:ENST00000586514:exon3:c.A235T:p.S79C;ENSG00000175387:ENST00000586040:exon1:c.A235T:p.R79W;ENSG00000175387:ENST00000589877:exon3:c.A235T:p.S79C;	0.975483227951984	0.58
18	45422893	T	C	18	47896522	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_001135937:exon2:c.A235G:p.R79G;SMAD2:NM_005901:exon2:c.A235G:p.S79G;SMAD2:NM_001003652:exon2:c.A235G:p.S79G;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.A235G:p.S79G;ENSG00000175387:ENST00000356825:exon2:c.A235G:p.R79G;ENSG00000175387:ENST00000591214:exon2:c.A235G:p.R79G;ENSG00000175387:ENST00000262160:exon2:c.A235G:p.S79G;ENSG00000175387:ENST00000587269:exon3:c.A235G:p.S79G;ENSG00000175387:ENST00000402690:exon2:c.A235G:p.S79G;ENSG00000175387:ENST00000587421:exon2:c.A235G:p.S79G;ENSG00000175387:ENST00000586514:exon3:c.A235G:p.S79G;ENSG00000175387:ENST00000586040:exon1:c.A235G:p.R79G;ENSG00000175387:ENST00000589877:exon3:c.A235G:p.S79G;	0.51205020477259	0.404
18	45422893	T	G	18	47896522	y	y	exonic	SMAD2	nonsynonymous SNV	SMAD2:NM_005901:exon2:c.A235C:p.S79R;SMAD2:NM_001003652:exon2:c.A235C:p.S79R;	exonic	ENSG00000175387	nonsynonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.A235C:p.S79R;ENSG00000175387:ENST00000262160:exon2:c.A235C:p.S79R;ENSG00000175387:ENST00000587269:exon3:c.A235C:p.S79R;ENSG00000175387:ENST00000402690:exon2:c.A235C:p.S79R;ENSG00000175387:ENST00000587421:exon2:c.A235C:p.S79R;ENSG00000175387:ENST00000586514:exon3:c.A235C:p.S79R;ENSG00000175387:ENST00000589877:exon3:c.A235C:p.S79R;	0.583392836097824	0.528
18	45422894	T	A	18	47896523	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon2:c.A234T:p.P78P;SMAD2:NM_005901:exon2:c.A234T:p.P78P;SMAD2:NM_001003652:exon2:c.A234T:p.P78P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.A234T:p.P78P;ENSG00000175387:ENST00000356825:exon2:c.A234T:p.P78P;ENSG00000175387:ENST00000591214:exon2:c.A234T:p.P78P;ENSG00000175387:ENST00000262160:exon2:c.A234T:p.P78P;ENSG00000175387:ENST00000587269:exon3:c.A234T:p.P78P;ENSG00000175387:ENST00000402690:exon2:c.A234T:p.P78P;ENSG00000175387:ENST00000587421:exon2:c.A234T:p.P78P;ENSG00000175387:ENST00000586514:exon3:c.A234T:p.P78P;ENSG00000175387:ENST00000586040:exon1:c.A234T:p.P78P;ENSG00000175387:ENST00000589877:exon3:c.A234T:p.P78P;	0.228284450102999	0.368
18	45422894	T	C	18	47896523	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon2:c.A234G:p.P78P;SMAD2:NM_005901:exon2:c.A234G:p.P78P;SMAD2:NM_001003652:exon2:c.A234G:p.P78P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.A234G:p.P78P;ENSG00000175387:ENST00000356825:exon2:c.A234G:p.P78P;ENSG00000175387:ENST00000591214:exon2:c.A234G:p.P78P;ENSG00000175387:ENST00000262160:exon2:c.A234G:p.P78P;ENSG00000175387:ENST00000587269:exon3:c.A234G:p.P78P;ENSG00000175387:ENST00000402690:exon2:c.A234G:p.P78P;ENSG00000175387:ENST00000587421:exon2:c.A234G:p.P78P;ENSG00000175387:ENST00000586514:exon3:c.A234G:p.P78P;ENSG00000175387:ENST00000586040:exon1:c.A234G:p.P78P;ENSG00000175387:ENST00000589877:exon3:c.A234G:p.P78P;	0.0112040010312846	0.114
18	45422894	T	G	18	47896523	y	y	exonic	SMAD2	synonymous SNV	SMAD2:NM_001135937:exon2:c.A234C:p.P78P;SMAD2:NM_005901:exon2:c.A234C:p.P78P;SMAD2:NM_001003652:exon2:c.A234C:p.P78P;	exonic	ENSG00000175387	synonymous SNV	ENSG00000175387:ENST00000585978:exon4:c.A234C:p.P78P;ENSG00000175387:ENST00000356825:exon2:c.A234C:p.P78P;ENSG00000175387:ENST00000591214:exon2:c.A234C:p.P78P;ENSG00000175387:ENST00000262160:exon2:c.A234C:p.P78P;ENSG00000175387:ENST00000587269:exon3:c.A234C:p.P78P;ENSG00000175387:ENST00000402690:exon2:c.A234C:p.P78P;ENSG00000175387:ENST00000587421:exon2:c.A234C:p.P78P;ENSG00000175387:ENST00000586514:exon3:c.A234C:p.P78P;ENSG00000175387:ENST00000586040:exon1:c.A234C:p.P78P;ENSG00000175387:ENST00000589877:exon3:c.A234C:p.P78P;	0.00805148942123537	0.064
18	45423179	A	C	18	47896808	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00158142960453711	0.118
18	45423179	A	G	18	47896808	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.016150247360838	0.132
18	45423179	A	T	18	47896808	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00531779887520317	0.226
18	45423180	C	A	18	47896809	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.994794759660999	0.75
18	45423180	C	G	18	47896809	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.994983885448229	0.736
18	45423180	C	T	18	47896809	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.941849344376885	0.62
18	45423181	C	A	18	47896810	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.999949496871441	0.93
18	45423181	C	G	18	47896810	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.999949496871441	0.926
18	45423181	C	T	18	47896810	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.999980428708689	0.932
18	45423182	T	A	18	47896811	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.999970661931818	0.934
18	45423182	T	C	18	47896811	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.99994568797423	0.926
18	45423182	T	G	18	47896811	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.99994568797423	0.934
18	45423183	A	C	18	47896812	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.767099430731958	0.638
18	45423183	A	G	18	47896812	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.1495658654116E-4	0.002
18	45423183	A	T	18	47896812	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.152564812161365	0.418
18	45423184	G	A	18	47896813	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.35558432793433E-4	0.068
18	45423184	G	C	18	47896813	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00189433833620287	0.076
18	45423184	G	T	18	47896813	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.93255283957207E-4	0.008
18	45423185	C	A	18	47896814	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.63945732090491E-5	0.012
18	45423185	C	G	18	47896814	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.03032886571215E-4	0.0
18	45423185	C	T	18	47896814	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.8789575407107E-4	0.0
18	45423186	A	C	18	47896815	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.629757819237856	0.514
18	45423186	A	G	18	47896815	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.46005627968268E-4	0.036
18	45423186	A	T	18	47896815	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999930371254056	0.944
18	45423187	G	A	18	47896816	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.46860484497216E-5	0.0
18	45423187	G	C	18	47896816	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00258461244027679	0.06
18	45423187	G	T	18	47896816	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.6834655171159E-4	0.078
18	45423188	A	C	18	47896817	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0304692351050663	0.476
18	45423188	A	G	18	47896817	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.53284346006325E-4	0.022
18	45423188	A	T	18	47896817	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.32903393263276	0.438
18	45423189	A	C	18	47896818	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00482779610229315	0.134
18	45423189	A	G	18	47896818	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.80978761003678E-4	0.01
18	45423189	A	T	18	47896818	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0117944794833427	0.216
18	45423190	A	C	18	47896819	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999939918424926	0.966
18	45423190	A	G	18	47896819	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00594266191522405	0.286
18	45423190	A	T	18	47896819	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.869664218899579	0.696
18	45423191	T	A	18	47896820	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.57722860629579E-5	0.052
18	45423191	T	C	18	47896820	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.11356745461599E-5	0.0
18	45423191	T	G	18	47896820	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.63367492020142E-5	0.002
18	45423192	A	C	18	47896821	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.999800109452467	0.978
18	45423192	A	G	18	47896821	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00274295261696786	0.142
18	45423192	A	T	18	47896821	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.776146929634653	0.758
18	45446435	T	A	18	47920064	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.5872545787408E-5	0.006
18	45446435	T	C	18	47920064	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.9036268812303E-5	0.004
18	45446435	T	G	18	47920064	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.9036268812303E-5	0.006
18	45446436	T	A	18	47920065	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.15631710620113E-5	0.026
18	45446436	T	C	18	47920065	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.55791715209454E-5	0.112
18	45446436	T	G	18	47920065	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.55791715209454E-5	0.112
18	45446437	T	A	18	47920066	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.15631710620113E-5	0.026
18	45446437	T	C	18	47920066	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.55791715209454E-5	0.112
18	45446437	T	G	18	47920066	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.55791715209454E-5	0.112
18	45446438	C	A	18	47920067	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.37582853480714E-5	0.0
18	45446438	C	G	18	47920067	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.37582853480714E-5	0.0
18	45446438	C	T	18	47920067	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.37582853480714E-5	0.0
18	45446439	T	A	18	47920068	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.04243866858565E-5	0.0
18	45446439	T	C	18	47920068	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.04243866858565E-5	0.0
18	45446439	T	G	18	47920068	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.04243866858565E-5	0.0
18	45446440	C	A	18	47920069	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.83016484676831E-5	0.04
18	45446440	C	G	18	47920069	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.83016484676831E-5	0.04
18	45446440	C	T	18	47920069	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.33308296055063E-4	0.042
18	45446441	A	C	18	47920070	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.29172098833992E-5	0.004
18	45446441	A	G	18	47920070	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.29172098833992E-5	0.004
18	45446441	A	T	18	47920070	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.55183766894313E-5	0.008
18	45446442	C	A	18	47920071	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45446442	C	G	18	47920071	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45446442	C	T	18	47920071	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45446443	A	C	18	47920072	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.55791715209454E-5	0.092
18	45446443	A	G	18	47920072	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.55791715209454E-5	0.078
18	45446443	A	T	18	47920072	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.15631710620113E-5	0.054
18	45446444	G	A	18	47920073	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.46522264953722E-5	0.0
18	45446444	G	C	18	47920073	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.46522264953722E-5	0.0
18	45446444	G	T	18	47920073	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.46522264953722E-5	0.0
18	45446445	T	A	18	47920074	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.04243866858565E-5	0.0
18	45446445	T	C	18	47920074	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.04243866858565E-5	0.004
18	45446445	T	G	18	47920074	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.04243866858565E-5	0.022
18	45446539	A	C	18	47920168	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.14301101535901E-5	0.0
18	45446539	A	G	18	47920168	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.14301101535901E-5	0.0
18	45446539	A	T	18	47920168	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.47039489069415E-5	0.0
18	45446540	T	A	18	47920169	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.04243866858565E-5	0.0
18	45446540	T	C	18	47920169	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.04243866858565E-5	0.0
18	45446540	T	G	18	47920169	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.04243866858565E-5	0.0
18	45446541	C	A	18	47920170	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.39252418165826E-5	0.002
18	45446541	C	G	18	47920170	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.39252418165826E-5	0.002
18	45446541	C	T	18	47920170	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.39252418165826E-5	0.002
18	45446542	T	A	18	47920171	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.78864525412067E-5	0.0
18	45446542	T	C	18	47920171	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45446542	T	G	18	47920171	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45446543	A	C	18	47920172	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.20590404879984E-5	0.004
18	45446543	A	G	18	47920172	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.20590404879984E-5	0.004
18	45446543	A	T	18	47920172	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.20590404879984E-5	0.004
18	45446544	C	A	18	47920173	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.86431456331734E-5	0.0
18	45446544	C	G	18	47920173	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.86431456331734E-5	0.002
18	45446544	C	T	18	47920173	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.86431456331734E-5	0.0
18	45446545	A	C	18	47920174	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.14850402615726E-5	0.0
18	45446545	A	G	18	47920174	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.14850402615726E-5	0.0
18	45446545	A	T	18	47920174	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.14850402615726E-5	0.002
18	45446546	C	A	18	47920175	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45446546	C	G	18	47920175	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45446546	C	T	18	47920175	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45446547	A	C	18	47920176	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.96638438091922E-5	0.0
18	45446547	A	G	18	47920176	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.96638438091922E-5	0.0
18	45446547	A	T	18	47920176	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.96638438091922E-5	0.0
18	45446548	T	A	18	47920177	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.46004206284423E-5	0.0
18	45446548	T	C	18	47920177	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.46004206284423E-5	0.0
18	45446548	T	G	18	47920177	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.46004206284423E-5	0.0
18	45446549	G	A	18	47920178	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.00286289604843E-5	0.02
18	45446549	G	C	18	47920178	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.94405013182015E-5	0.0
18	45446549	G	T	18	47920178	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.94405013182015E-5	0.0
18	45446550	G	A	18	47920179	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.1548255067557E-5	0.0
18	45446550	G	C	18	47920179	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.1548255067557E-5	0.002
18	45446550	G	T	18	47920179	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.1548255067557E-5	0.002
18	45446551	A	C	18	47920180	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.15631710620113E-5	0.054
18	45446551	A	G	18	47920180	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.15631710620113E-5	0.056
18	45446551	A	T	18	47920180	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.15631710620113E-5	0.02
18	45446552	G	A	18	47920181	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.33308296055063E-4	0.07
18	45446552	G	C	18	47920181	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.33308296055063E-4	0.04
18	45446552	G	T	18	47920181	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.33308296055063E-4	0.05
18	45448910	T	A	18	47922539	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.08802802279601E-5	0.002
18	45448910	T	C	18	47922539	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.78864525412067E-5	0.0
18	45448910	T	G	18	47922539	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.78864525412067E-5	0.0
18	45448911	T	A	18	47922540	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.54291542054858E-4	0.006
18	45448911	T	C	18	47922540	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.54291542054858E-4	0.008
18	45448911	T	G	18	47922540	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.54291542054858E-4	0.008
18	45448912	C	A	18	47922541	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.44571914076258E-5	0.004
18	45448912	C	G	18	47922541	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.44571914076258E-5	0.0
18	45448912	C	T	18	47922541	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.26007143607885E-5	0.008
18	45448913	T	A	18	47922542	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.26007143607885E-5	0.008
18	45448913	T	C	18	47922542	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.26007143607885E-5	0.006
18	45448913	T	G	18	47922542	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.26007143607885E-5	0.006
18	45448914	A	C	18	47922543	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.05567792764038E-5	0.004
18	45448914	A	G	18	47922543	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.05567792764038E-5	0.004
18	45448914	A	T	18	47922543	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.12967705479703E-5	0.002
18	45448915	C	A	18	47922544	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.27163650926202E-4	0.016
18	45448915	C	G	18	47922544	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.27163650926202E-4	0.018
18	45448915	C	T	18	47922544	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.27163650926202E-4	0.022
18	45448916	A	C	18	47922545	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	1.20034981273023E-4	0.008
18	45448916	A	G	18	47922545	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	1.20034981273023E-4	0.008
18	45448916	A	T	18	47922545	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.18154394036611E-4	0.012
18	45448917	C	A	18	47922546	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	6.4243997895107E-5	0.022
18	45448917	C	G	18	47922546	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	6.4243997895107E-5	0.008
18	45448917	C	T	18	47922546	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	4.8042999492716E-5	0.0
18	45448918	C	A	18	47922547	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.02466957729168E-5	0.004
18	45448918	C	G	18	47922547	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.72992662986781E-5	0.004
18	45448918	C	T	18	47922547	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.02466957729168E-5	0.004
18	45448919	A	C	18	47922548	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.15267776820636E-5	0.0
18	45448919	A	G	18	47922548	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.15267776820636E-5	0.0
18	45448919	A	T	18	47922548	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.15267776820636E-5	0.0
18	45448920	T	A	18	47922549	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	7.62500938860321E-5	0.0
18	45448920	T	C	18	47922549	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	6.90866578596279E-5	0.0
18	45448920	T	G	18	47922549	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	6.90866578596279E-5	0.0
18	45449025	T	A	18	47922654	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	8.07028132666917E-5	0.004
18	45449025	T	C	18	47922654	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.50570520811733E-5	0.0
18	45449025	T	G	18	47922654	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.50570520811733E-5	0.0
18	45449026	A	C	18	47922655	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.9469183429777E-5	0.0
18	45449026	A	G	18	47922655	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.9469183429777E-5	0.0
18	45449026	A	T	18	47922655	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.9469183429777E-5	0.0
18	45449027	C	A	18	47922656	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45449027	C	G	18	47922656	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.45277156108894E-5	0.0
18	45449027	C	T	18	47922656	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.78864525412067E-5	0.0
18	45449028	T	A	18	47922657	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	5.15941453541388E-5	0.002
18	45449028	T	C	18	47922657	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	6.89925739660516E-5	0.006
18	45449028	T	G	18	47922657	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	6.89925739660516E-5	0.006
18	45449029	A	C	18	47922658	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.82827935381688E-5	0.004
18	45449029	A	G	18	47922658	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.82827935381688E-5	0.004
18	45449029	A	T	18	47922658	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.82827935381688E-5	0.004
18	45449030	C	A	18	47922659	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.52932449848953E-5	0.002
18	45449030	C	G	18	47922659	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.52932449848953E-5	0.002
18	45449030	C	T	18	47922659	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.52932449848953E-5	0.002
18	45449031	A	C	18	47922660	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.83708300348738E-5	0.0
18	45449031	A	G	18	47922660	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.83708300348738E-5	0.0
18	45449031	A	T	18	47922660	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.83708300348738E-5	0.008
18	45449032	A	C	18	47922661	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.87872098031522E-5	0.0
18	45449032	A	G	18	47922661	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.87872098031522E-5	0.0
18	45449032	A	T	18	47922661	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.87872098031522E-5	0.0
18	45449033	G	A	18	47922662	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.95853904142978E-5	0.006
18	45449033	G	C	18	47922662	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.95853904142978E-5	0.006
18	45449033	G	T	18	47922662	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.95853904142978E-5	0.008
18	45449034	G	A	18	47922663	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.89925739660516E-5	0.004
18	45449034	G	C	18	47922663	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.31929338280547E-5	0.004
18	45449034	G	T	18	47922663	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.89925739660516E-5	0.004
18	45449035	C	A	18	47922664	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.82683257725706E-5	0.12
18	45449035	C	G	18	47922664	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.82683257725706E-5	0.008
18	45449035	C	T	18	47922664	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.35742017695309E-5	0.002
18	45449036	A	C	18	47922665	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.17369458176992E-5	0.0
18	45449036	A	G	18	47922665	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.65778582306901E-5	0.0
18	45449036	A	T	18	47922665	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.9469183429777E-5	0.0
18	45449037	G	A	18	47922666	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.89925739660516E-5	0.004
18	45449037	G	C	18	47922666	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.31929338280547E-5	0.004
18	45449037	G	T	18	47922666	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.89925739660516E-5	0.004
18	45449038	A	C	18	47922667	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.7586829694842E-5	0.0
18	45449038	A	G	18	47922667	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.7586829694842E-5	0.002
18	45449038	A	T	18	47922667	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.64905445396362E-5	0.0
18	45449929	G	A	18	47923558	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.74925866171648E-5	0.0
18	45449929	G	C	18	47923558	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.2931371955823E-5	0.0
18	45449929	G	T	18	47923558	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.2931371955823E-5	0.0
18	45449930	C	A	18	47923559	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.04136101913428E-5	0.042
18	45449930	C	G	18	47923559	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.26740169411078E-5	0.042
18	45449930	C	T	18	47923559	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.2369051987551E-5	0.042
18	45449931	A	C	18	47923560	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.48470213526837E-4	0.002
18	45449931	A	G	18	47923560	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.48470213526837E-4	0.002
18	45449931	A	T	18	47923560	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.77589126971501E-4	0.002
18	45449932	G	A	18	47923561	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.61168083656048E-5	0.042
18	45449932	G	C	18	47923561	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.4518697930878E-5	0.056
18	45449932	G	T	18	47923561	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.94596726999572E-5	0.042
18	45449933	C	A	18	47923562	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.4518697930878E-5	0.058
18	45449933	C	G	18	47923562	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	5.4518697930878E-5	0.044
18	45449933	C	T	18	47923562	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.94596726999572E-5	0.042
18	45449934	T	A	18	47923563	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	7.90853308212443E-5	0.0
18	45449934	T	C	18	47923563	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.94596726999572E-5	0.0
18	45449934	T	G	18	47923563	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.94596726999572E-5	0.0
18	45449935	A	C	18	47923564	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	7.88281519616499E-5	0.024
18	45449935	A	G	18	47923564	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	7.88281519616499E-5	0.006
18	45449935	A	T	18	47923564	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	7.88281519616499E-5	0.006
18	45449936	C	A	18	47923565	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	1.85703500813393E-4	0.01
18	45449936	C	G	18	47923565	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	1.85703500813393E-4	0.012
18	45449936	C	T	18	47923565	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	1.85703500813393E-4	0.014
18	45449937	C	A	18	47923566	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.16080636402324E-4	0.016
18	45449937	C	G	18	47923566	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.19087666414529E-4	0.0
18	45449937	C	T	18	47923566	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.16080636402324E-4	0.0
18	45449938	T	A	18	47923567	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.49817874025862E-4	0.0
18	45449938	T	C	18	47923567	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.45770038015022E-4	0.0
18	45449938	T	G	18	47923567	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.45770038015022E-4	0.0
18	45449939	G	A	18	47923568	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.33698758487849E-4	0.014
18	45449939	G	C	18	47923568	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.52408431330711E-4	0.004
18	45449939	G	T	18	47923568	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.33698758487849E-4	0.048
18	45456615	G	A	18	47930244	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.77536005455013E-4	0.004
18	45456615	G	C	18	47930244	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.77798218238944E-4	0.006
18	45456615	G	T	18	47930244	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.77798218238944E-4	0.004
18	45456616	A	C	18	47930245	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.27195409878799E-4	0.002
18	45456616	A	G	18	47930245	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.27195409878799E-4	0.002
18	45456616	A	T	18	47930245	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.36082541770986E-4	0.002
18	45456617	A	C	18	47930246	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.28570352374132E-4	0.02
18	45456617	A	G	18	47930246	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.28570352374132E-4	0.01
18	45456617	A	T	18	47930246	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.26824856782662E-4	0.004
18	45456618	C	A	18	47930247	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00312325688981597	0.018
18	45456618	C	G	18	47930247	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00266406911006437	0.024
18	45456618	C	T	18	47930247	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00219018686618842	0.04
18	45456619	T	A	18	47930248	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	1.21488479013301E-4	0.002
18	45456619	T	C	18	47930248	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.54515148927916E-5	0.002
18	45456619	T	G	18	47930248	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.54515148927916E-5	0.002
18	45456620	C	A	18	47930249	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00312325688981597	0.026
18	45456620	C	G	18	47930249	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.0026356507984752	0.014
18	45456620	C	T	18	47930249	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00312325688981597	0.012
18	45456621	A	C	18	47930250	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.75274067003406E-5	0.0
18	45456621	A	G	18	47930250	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.75274067003406E-5	0.0
18	45456621	A	T	18	47930250	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	4.99348426016347E-5	0.0
18	45456622	C	A	18	47930251	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.00266406911006437	0.016
18	45456622	C	G	18	47930251	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.0026356507984752	0.01
18	45456622	C	T	18	47930251	n	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.00312325688981597	0.012
18	45456623	C	A	18	47930252	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00312325688981597	0.012
18	45456623	C	G	18	47930252	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.0026356507984752	0.01
18	45456623	C	T	18	47930252	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00168007639731733	0.012
18	45456624	A	C	18	47930253	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.45460438296073E-4	0.026
18	45456624	A	G	18	47930253	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.648861285726E-4	0.002
18	45456624	A	T	18	47930253	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.2211023406552E-4	0.008
18	45456625	C	A	18	47930254	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00168007639731733	0.012
18	45456625	C	G	18	47930254	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00312325688981597	0.034
18	45456625	C	T	18	47930254	n	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00219018686618842	0.016
18	45456724	G	A	18	47930353	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.54676620579499E-4	0.004
18	45456724	G	C	18	47930353	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.24442778118788E-4	0.004
18	45456724	G	T	18	47930353	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.54676620579499E-4	0.002
18	45456725	G	A	18	47930354	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00453101582711718	0.02
18	45456725	G	C	18	47930354	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.8211948389727E-4	0.03
18	45456725	G	T	18	47930354	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.61559136456356E-4	0.006
18	45456726	C	A	18	47930355	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	8.07600160350676E-5	0.002
18	45456726	C	G	18	47930355	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00115998979153257	0.056
18	45456726	C	T	18	47930355	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.36476947465743E-4	0.004
18	45456727	T	A	18	47930356	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.6964839930191E-4	0.008
18	45456727	T	C	18	47930356	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.87185769986579E-4	0.13
18	45456727	T	G	18	47930356	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.03364173198084E-4	0.024
18	45456728	T	A	18	47930357	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.85499385189324	0.506
18	45456728	T	C	18	47930357	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.72798611163821	0.568
18	45456728	T	G	18	47930357	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.581476362007964	0.364
18	45456729	T	A	18	47930358	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.998146231910583	0.908
18	45456729	T	C	18	47930358	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.723849249097877	0.508
18	45456729	T	G	18	47930358	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.999685157468234	0.956
18	45456730	A	C	18	47930359	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.99998651018852	0.768
18	45456730	A	G	18	47930359	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.953881915164967	0.454
18	45456730	A	T	18	47930359	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.999983626749857	0.764
18	45456731	C	A	18	47930360	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.999968624618023	0.762
18	45456731	C	G	18	47930360	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.999968624618023	0.762
18	45456731	C	T	18	47930360	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.99996191829558	0.756
18	45456732	C	A	18	47930361	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.999988326592782	0.966
18	45456732	C	G	18	47930361	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.99999788589887	0.99
18	45456732	C	T	18	47930361	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.999965501514665	0.994
18	45456733	T	A	18	47930362	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.942795759271439	0.676
18	45456733	T	C	18	47930362	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.886580215255318	0.704
18	45456733	T	G	18	47930362	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.792543225088948	0.542
18	45456734	G	A	18	47930363	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.624719128939622	0.506
18	45456734	G	C	18	47930363	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.0126615562434396	0.086
18	45456734	G	T	18	47930363	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00206331125436285	0.05
18	45456816	G	A	18	47930445	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.6714355815838E-5	0.002
18	45456816	G	C	18	47930445	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.6714355815838E-5	0.0
18	45456816	G	T	18	47930445	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.6714355815838E-5	0.0
18	45456817	G	A	18	47930446	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00154592920084238	0.018
18	45456817	G	C	18	47930446	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00154592920084238	0.018
18	45456817	G	T	18	47930446	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00154592920084238	0.018
18	45456818	C	A	18	47930447	n	y	UTR5	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.00222044931597881	0.018
18	45456818	C	G	18	47930447	n	y	UTR5	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.00154592920084238	0.018
18	45456818	C	T	18	47930447	n	y	UTR5	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.00177780133235394	0.018
18	45456819	T	A	18	47930448	n	y	UTR5	SMAD2	.	.	splicing	ENSG00000175387	.	.	4.71960572073811E-4	0.002
18	45456819	T	C	18	47930448	n	y	UTR5	SMAD2	.	.	splicing	ENSG00000175387	.	.	4.71960572073811E-4	0.002
18	45456819	T	G	18	47930448	n	y	UTR5	SMAD2	.	.	splicing	ENSG00000175387	.	.	4.71960572073811E-4	0.002
18	45456820	G	A	18	47930449	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.83490353963229E-5	0.002
18	45456820	G	C	18	47930449	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	8.41208634289763E-5	0.004
18	45456820	G	T	18	47930449	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.83490353963229E-5	0.002
18	45456821	G	A	18	47930450	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	7.13479546036976E-5	0.008
18	45456821	G	C	18	47930450	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	7.13479546036976E-5	0.006
18	45456821	G	T	18	47930450	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	7.13479546036976E-5	0.006
18	45456822	G	A	18	47930451	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.91117532231267E-5	0.024
18	45456822	G	C	18	47930451	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.91117532231267E-5	0.006
18	45456822	G	T	18	47930451	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.91117532231267E-5	0.008
18	45456823	A	C	18	47930452	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	9.16029726566022E-5	0.0
18	45456823	A	G	18	47930452	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	9.16029726566022E-5	0.0
18	45456823	A	T	18	47930452	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	9.16029726566022E-5	0.0
18	45456824	G	A	18	47930453	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.07620641825897E-5	0.0
18	45456824	G	C	18	47930453	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.07620641825897E-5	0.0
18	45456824	G	T	18	47930453	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.07620641825897E-5	0.0
18	45456825	G	A	18	47930454	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.91117532231267E-5	0.006
18	45456825	G	C	18	47930454	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.64774154134373E-5	0.002
18	45456825	G	T	18	47930454	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.91117532231267E-5	0.01
18	45456826	G	A	18	47930455	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.06744095626291E-4	0.012
18	45456826	G	C	18	47930455	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.13756114656667E-4	0.01
18	45456826	G	T	18	47930455	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.13756114656667E-4	0.016
18	45456827	G	A	18	47930456	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.62829891511816E-5	0.002
18	45456827	G	C	18	47930456	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	6.18905158676629E-5	0.036
18	45456827	G	T	18	47930456	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	4.62829891511816E-5	0.006
18	45456828	A	C	18	47930457	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.14105400324059E-5	0.004
18	45456828	A	G	18	47930457	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.14105400324059E-5	0.002
18	45456828	A	T	18	47930457	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	5.08209608393818E-5	0.006
18	45456829	A	C	18	47930458	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.17380870795729E-5	0.0
18	45456829	A	G	18	47930458	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.17380870795729E-5	0.0
18	45456829	A	T	18	47930458	n	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.17380870795729E-5	0.0
18	45457159	C	A	18	47930788	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.24362281990065E-5	0.076
18	45457159	C	G	18	47930788	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	6.24362281990065E-5	0.086
18	45457159	C	T	18	47930788	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.51616651487758E-5	0.08
18	45457160	C	A	18	47930789	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.51616651487758E-5	0.078
18	45457160	C	G	18	47930789	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	8.51616651487758E-5	0.08
18	45457160	C	T	18	47930789	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	9.58890409879498E-5	0.092
18	45457161	A	C	18	47930790	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.55553887137784E-4	0.008
18	45457161	A	G	18	47930790	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.55553887137784E-4	0.008
18	45457161	A	T	18	47930790	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	4.12078541251198E-4	0.01
18	45457162	C	A	18	47930791	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.84941899667927E-4	0.006
18	45457162	C	G	18	47930791	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.14079861889314E-4	0.01
18	45457162	C	T	18	47930791	n	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.84941899667927E-4	0.006
18	45457163	G	A	18	47930792	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.84941899667927E-4	0.008
18	45457163	G	C	18	47930792	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	3.14079861889314E-4	0.01
18	45457163	G	T	18	47930792	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	2.84941899667927E-4	0.008
18	45457164	C	A	18	47930793	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00209413020355721	0.046
18	45457164	C	G	18	47930793	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00209413020355721	0.048
18	45457164	C	T	18	47930793	y	y	intronic	SMAD2	.	.	intronic	ENSG00000175387	.	.	0.00189457530818393	0.05
18	45457165	A	C	18	47930794	y	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.13663867379083E-4	0.006
18	45457165	A	G	18	47930794	y	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	3.13663867379083E-4	0.006
18	45457165	A	T	18	47930794	y	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	2.83725814969396E-4	0.008
18	45457166	C	A	18	47930795	y	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.00209413020355721	0.046
18	45457166	C	G	18	47930795	y	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.00209413020355721	0.048
18	45457166	C	T	18	47930795	y	y	intronic	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.00189457530818393	0.05
18	45457167	C	A	18	47930796	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00209413020355721	0.046
18	45457167	C	G	18	47930796	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00209413020355721	0.048
18	45457167	C	T	18	47930796	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00189457530818393	0.048
18	45457168	C	A	18	47930797	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.84941899667927E-4	0.008
18	45457168	C	G	18	47930797	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	3.14079861889314E-4	0.01
18	45457168	C	T	18	47930797	y	y	intronic	SMAD2	.	.	UTR5	ENSG00000175387	.	.	2.84941899667927E-4	0.008
18	45457169	A	C	18	47930798	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.0117406206365537	0.248
18	45457169	A	G	18	47930798	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.0117406206365537	0.236
18	45457169	A	T	18	47930798	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.0229998072273651	0.306
18	45457170	C	A	18	47930799	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.0417357288665796	0.44
18	45457170	C	G	18	47930799	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.0368965626019213	0.368
18	45457170	C	T	18	47930799	y	y	splicing	SMAD2	.	.	splicing	ENSG00000175387	.	.	0.0529468542546574	0.47
18	45457171	C	A	18	47930800	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00257756074095153	0.054
18	45457171	C	G	18	47930800	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00189457530818393	0.05
18	45457171	C	T	18	47930800	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00257756074095153	0.084
18	45457172	T	A	18	47930801	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.0030071635622447	0.156
18	45457172	T	C	18	47930801	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00110756834789332	0.042
18	45457172	T	G	18	47930801	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	0.00109918619944061	0.042
18	45457173	C	A	18	47930802	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.88837545189497E-4	0.002
18	45457173	C	G	18	47930802	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.88837545189497E-4	0.002
18	45457173	C	T	18	47930802	y	y	UTR5	SMAD2	.	.	UTR5	ENSG00000175387	.	.	1.88837545189497E-4	0.0
18	45556281	G	A	18	48029910	y	y	exonic	ZBTB7C	stopgain SNV	ZBTB7C:NM_001039360:exon3:c.C1210T:p.Q404X;	exonic	ENSG00000184828	stopgain SNV	ENSG00000184828:ENST00000586438:exon3:c.C1210T:p.Q404X;ENSG00000184828:ENST00000590800:exon5:c.C1210T:p.Q404X;ENSG00000184828:ENST00000332053:exon2:c.C1210T:p.Q404X;ENSG00000184828:ENST00000535628:exon3:c.C1210T:p.Q404X;ENSG00000184828:ENST00000588982:exon4:c.C1210T:p.Q404X;	0.89093092674939	0.87
18	45556281	G	C	18	48029910	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon3:c.C1210G:p.Q404E;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon3:c.C1210G:p.Q404E;ENSG00000184828:ENST00000590800:exon5:c.C1210G:p.Q404E;ENSG00000184828:ENST00000332053:exon2:c.C1210G:p.Q404E;ENSG00000184828:ENST00000535628:exon3:c.C1210G:p.Q404E;ENSG00000184828:ENST00000588982:exon4:c.C1210G:p.Q404E;	0.767415987270689	0.64
18	45556281	G	T	18	48029910	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon3:c.C1210A:p.Q404K;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon3:c.C1210A:p.Q404K;ENSG00000184828:ENST00000590800:exon5:c.C1210A:p.Q404K;ENSG00000184828:ENST00000332053:exon2:c.C1210A:p.Q404K;ENSG00000184828:ENST00000535628:exon3:c.C1210A:p.Q404K;ENSG00000184828:ENST00000588982:exon4:c.C1210A:p.Q404K;	0.858646432243287	0.71
18	45556282	C	A	18	48029911	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon3:c.G1209T:p.R403S;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon3:c.G1209T:p.R403S;ENSG00000184828:ENST00000590800:exon5:c.G1209T:p.R403S;ENSG00000184828:ENST00000332053:exon2:c.G1209T:p.R403S;ENSG00000184828:ENST00000535628:exon3:c.G1209T:p.R403S;ENSG00000184828:ENST00000588982:exon4:c.G1209T:p.R403S;	0.996693240288519	0.886
18	45556282	C	G	18	48029911	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon3:c.G1209C:p.R403S;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon3:c.G1209C:p.R403S;ENSG00000184828:ENST00000590800:exon5:c.G1209C:p.R403S;ENSG00000184828:ENST00000332053:exon2:c.G1209C:p.R403S;ENSG00000184828:ENST00000535628:exon3:c.G1209C:p.R403S;ENSG00000184828:ENST00000588982:exon4:c.G1209C:p.R403S;	0.958448220569338	0.762
18	45556282	C	T	18	48029911	y	y	exonic	ZBTB7C	synonymous SNV	ZBTB7C:NM_001039360:exon3:c.G1209A:p.R403R;	exonic	ENSG00000184828	synonymous SNV	ENSG00000184828:ENST00000586438:exon3:c.G1209A:p.R403R;ENSG00000184828:ENST00000590800:exon5:c.G1209A:p.R403R;ENSG00000184828:ENST00000332053:exon2:c.G1209A:p.R403R;ENSG00000184828:ENST00000535628:exon3:c.G1209A:p.R403R;ENSG00000184828:ENST00000588982:exon4:c.G1209A:p.R403R;	0.0506357443849923	0.312
18	45556283	C	A	18	48029912	y	y	splicing	ZBTB7C(NM_001039360:exon4:c.1209-1G>T)	.	.	splicing	ENSG00000184828(ENST00000590800:exon6:c.1209-1G>T;ENST00000586438:exon4:c.1209-1G>T;ENST00000588982:exon5:c.1209-1G>T;ENST00000535628:exon4:c.1209-1G>T;ENST00000332053:exon3:c.1209-1G>T)	.	.	0.999984815981472	0.914
18	45556283	C	G	18	48029912	y	y	splicing	ZBTB7C(NM_001039360:exon4:c.1209-1G>C)	.	.	splicing	ENSG00000184828(ENST00000590800:exon6:c.1209-1G>C;ENST00000586438:exon4:c.1209-1G>C;ENST00000588982:exon5:c.1209-1G>C;ENST00000535628:exon4:c.1209-1G>C;ENST00000332053:exon3:c.1209-1G>C)	.	.	0.999984815981472	0.914
18	45556283	C	T	18	48029912	y	y	splicing	ZBTB7C(NM_001039360:exon4:c.1209-1G>A)	.	.	splicing	ENSG00000184828(ENST00000590800:exon6:c.1209-1G>A;ENST00000586438:exon4:c.1209-1G>A;ENST00000588982:exon5:c.1209-1G>A;ENST00000535628:exon4:c.1209-1G>A;ENST00000332053:exon3:c.1209-1G>A)	.	.	0.999984815981472	0.914
18	45556284	T	A	18	48029913	y	y	splicing	ZBTB7C(NM_001039360:exon4:c.1209-2A>T)	.	.	splicing	ENSG00000184828(ENST00000590800:exon6:c.1209-2A>T;ENST00000586438:exon4:c.1209-2A>T;ENST00000588982:exon5:c.1209-2A>T;ENST00000535628:exon4:c.1209-2A>T;ENST00000332053:exon3:c.1209-2A>T)	.	.	0.999990155693597	0.928
18	45556284	T	C	18	48029913	y	y	splicing	ZBTB7C(NM_001039360:exon4:c.1209-2A>G)	.	.	splicing	ENSG00000184828(ENST00000590800:exon6:c.1209-2A>G;ENST00000586438:exon4:c.1209-2A>G;ENST00000588982:exon5:c.1209-2A>G;ENST00000535628:exon4:c.1209-2A>G;ENST00000332053:exon3:c.1209-2A>G)	.	.	0.999990155693597	0.928
18	45556284	T	G	18	48029913	y	y	splicing	ZBTB7C(NM_001039360:exon4:c.1209-2A>C)	.	.	splicing	ENSG00000184828(ENST00000590800:exon6:c.1209-2A>C;ENST00000586438:exon4:c.1209-2A>C;ENST00000588982:exon5:c.1209-2A>C;ENST00000535628:exon4:c.1209-2A>C;ENST00000332053:exon3:c.1209-2A>C)	.	.	0.999990155693597	0.928
18	45556285	G	A	18	48029914	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.396022963822568	0.208
18	45556285	G	C	18	48029914	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999898572356416	0.956
18	45556285	G	T	18	48029914	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999212244418605	0.926
18	45556286	C	A	18	48029915	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.83394049883248E-4	0.01
18	45556286	C	G	18	48029915	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.48936439122495E-4	0.012
18	45556286	C	T	18	48029915	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.55537185208581E-4	0.026
18	45556287	A	C	18	48029916	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.524734731181481	0.416
18	45556287	A	G	18	48029916	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00329995818705301	0.154
18	45556287	A	T	18	48029916	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999855933372631	0.964
18	45556288	A	C	18	48029917	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999924598293202	0.976
18	45556288	A	G	18	48029917	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.29741280352322E-4	0.004
18	45556288	A	T	18	48029917	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.559030363479781	0.494
18	45556289	T	A	18	48029918	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.28662530383707E-5	0.002
18	45556289	T	C	18	48029918	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.33985307275142E-5	0.002
18	45556289	T	G	18	48029918	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.53658977832922E-5	0.014
18	45556290	G	A	18	48029919	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.19919278409628E-5	0.002
18	45556290	G	C	18	48029919	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00466955820940212	0.084
18	45556290	G	T	18	48029919	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.35922790750991E-4	0.034
18	45556291	C	A	18	48029920	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.63470365288325E-4	0.0
18	45556291	C	G	18	48029920	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00174597041146279	0.016
18	45556291	C	T	18	48029920	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00509923186020955	0.038
18	45556292	A	C	18	48029921	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.870873457997803	0.768
18	45556292	A	G	18	48029921	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.66764863097945E-4	0.028
18	45556292	A	T	18	48029921	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999917880940235	0.986
18	45556293	G	A	18	48029922	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.69998088136974E-5	0.0
18	45556293	G	C	18	48029922	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.93855554858958E-4	0.028
18	45556293	G	T	18	48029922	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0031140798631376	0.112
18	45556294	A	C	18	48029923	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.11127867333668	0.312
18	45556294	A	G	18	48029923	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.19723242103421E-4	0.0
18	45556294	A	T	18	48029923	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.238438466988413	0.422
18	45566263	A	C	18	48039892	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.48059226380894E-4	0.0
18	45566263	A	G	18	48039892	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.73747404988067E-4	0.002
18	45566263	A	T	18	48039892	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.49933826202927E-4	0.002
18	45566264	T	A	18	48039893	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.70993968340564E-4	0.004
18	45566264	T	C	18	48039893	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.20976691638488E-4	0.0
18	45566264	T	G	18	48039893	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.31494776599194E-5	0.002
18	45566265	G	A	18	48039894	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.94468535030691E-5	0.004
18	45566265	G	C	18	48039894	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.02475842053809E-5	0.012
18	45566265	G	T	18	48039894	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.68491931116169E-4	0.006
18	45566266	C	A	18	48039895	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999927974205441	0.944
18	45566266	C	G	18	48039895	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.99974416399729	0.966
18	45566266	C	T	18	48039895	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.99975554346586	0.99
18	45566267	G	A	18	48039896	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00151986987857002	0.044
18	45566267	G	C	18	48039896	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.72136221668073E-4	0.138
18	45566267	G	T	18	48039896	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.01554118730368E-4	0.038
18	45566268	C	A	18	48039897	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.97816122694744	0.744
18	45566268	C	G	18	48039897	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.983499551378036	0.768
18	45566268	C	T	18	48039897	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.84044086715269E-4	0.014
18	45566269	A	C	18	48039898	y	y	splicing	ZBTB7C(NM_001039360:exon3:c.1208+2T>G)	.	.	splicing	ENSG00000184828(ENST00000590800:exon5:c.1208+2T>G;ENST00000586438:exon3:c.1208+2T>G;ENST00000588982:exon4:c.1208+2T>G;ENST00000535628:exon3:c.1208+2T>G;ENST00000332053:exon2:c.1208+2T>G)	.	.	0.999988247793601	0.928
18	45566269	A	G	18	48039898	y	y	splicing	ZBTB7C(NM_001039360:exon3:c.1208+2T>C)	.	.	splicing	ENSG00000184828(ENST00000590800:exon5:c.1208+2T>C;ENST00000586438:exon3:c.1208+2T>C;ENST00000588982:exon4:c.1208+2T>C;ENST00000535628:exon3:c.1208+2T>C;ENST00000332053:exon2:c.1208+2T>C)	.	.	0.99991520749976	0.864
18	45566269	A	T	18	48039898	y	y	splicing	ZBTB7C(NM_001039360:exon3:c.1208+2T>A)	.	.	splicing	ENSG00000184828(ENST00000590800:exon5:c.1208+2T>A;ENST00000586438:exon3:c.1208+2T>A;ENST00000588982:exon4:c.1208+2T>A;ENST00000535628:exon3:c.1208+2T>A;ENST00000332053:exon2:c.1208+2T>A)	.	.	0.999988247793601	0.928
18	45566270	C	A	18	48039899	y	y	splicing	ZBTB7C(NM_001039360:exon3:c.1208+1G>T)	.	.	splicing	ENSG00000184828(ENST00000590800:exon5:c.1208+1G>T;ENST00000586438:exon3:c.1208+1G>T;ENST00000588982:exon4:c.1208+1G>T;ENST00000535628:exon3:c.1208+1G>T;ENST00000332053:exon2:c.1208+1G>T)	.	.	0.999986675681007	0.934
18	45566270	C	G	18	48039899	y	y	splicing	ZBTB7C(NM_001039360:exon3:c.1208+1G>C)	.	.	splicing	ENSG00000184828(ENST00000590800:exon5:c.1208+1G>C;ENST00000586438:exon3:c.1208+1G>C;ENST00000588982:exon4:c.1208+1G>C;ENST00000535628:exon3:c.1208+1G>C;ENST00000332053:exon2:c.1208+1G>C)	.	.	0.999986675681007	0.934
18	45566270	C	T	18	48039899	y	y	splicing	ZBTB7C(NM_001039360:exon3:c.1208+1G>A)	.	.	splicing	ENSG00000184828(ENST00000590800:exon5:c.1208+1G>A;ENST00000586438:exon3:c.1208+1G>A;ENST00000588982:exon4:c.1208+1G>A;ENST00000535628:exon3:c.1208+1G>A;ENST00000332053:exon2:c.1208+1G>A)	.	.	0.999986675681007	0.934
18	45566271	C	A	18	48039900	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.G1208T:p.R403M;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.G1208T:p.R403M;ENSG00000184828:ENST00000590800:exon4:c.G1208T:p.R403M;ENSG00000184828:ENST00000332053:exon1:c.G1208T:p.R403M;ENSG00000184828:ENST00000535628:exon2:c.G1208T:p.R403M;ENSG00000184828:ENST00000588982:exon3:c.G1208T:p.R403M;	0.999976493254146	0.998
18	45566271	C	G	18	48039900	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.G1208C:p.R403T;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.G1208C:p.R403T;ENSG00000184828:ENST00000590800:exon4:c.G1208C:p.R403T;ENSG00000184828:ENST00000332053:exon1:c.G1208C:p.R403T;ENSG00000184828:ENST00000535628:exon2:c.G1208C:p.R403T;ENSG00000184828:ENST00000588982:exon3:c.G1208C:p.R403T;	0.999994489789114	0.998
18	45566271	C	T	18	48039900	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.G1208A:p.R403K;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.G1208A:p.R403K;ENSG00000184828:ENST00000590800:exon4:c.G1208A:p.R403K;ENSG00000184828:ENST00000332053:exon1:c.G1208A:p.R403K;ENSG00000184828:ENST00000535628:exon2:c.G1208A:p.R403K;ENSG00000184828:ENST00000588982:exon3:c.G1208A:p.R403K;	0.999989108119449	1.0
18	45566272	T	A	18	48039901	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.A1207T:p.R403W;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.A1207T:p.R403W;ENSG00000184828:ENST00000590800:exon4:c.A1207T:p.R403W;ENSG00000184828:ENST00000332053:exon1:c.A1207T:p.R403W;ENSG00000184828:ENST00000535628:exon2:c.A1207T:p.R403W;ENSG00000184828:ENST00000588982:exon3:c.A1207T:p.R403W;	0.999809699482545	0.998
18	45566272	T	C	18	48039901	y	y	exonic	ZBTB7C	nonsynonymous SNV	ZBTB7C:NM_001039360:exon2:c.A1207G:p.R403G;	exonic	ENSG00000184828	nonsynonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.A1207G:p.R403G;ENSG00000184828:ENST00000590800:exon4:c.A1207G:p.R403G;ENSG00000184828:ENST00000332053:exon1:c.A1207G:p.R403G;ENSG00000184828:ENST00000535628:exon2:c.A1207G:p.R403G;ENSG00000184828:ENST00000588982:exon3:c.A1207G:p.R403G;	0.999858743172531	0.992
18	45566272	T	G	18	48039901	y	y	exonic	ZBTB7C	synonymous SNV	ZBTB7C:NM_001039360:exon2:c.A1207C:p.R403R;	exonic	ENSG00000184828	synonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.A1207C:p.R403R;ENSG00000184828:ENST00000590800:exon4:c.A1207C:p.R403R;ENSG00000184828:ENST00000332053:exon1:c.A1207C:p.R403R;ENSG00000184828:ENST00000535628:exon2:c.A1207C:p.R403R;ENSG00000184828:ENST00000588982:exon3:c.A1207C:p.R403R;	0.996702215111304	0.934
18	45566273	G	A	18	48039902	y	y	exonic	ZBTB7C	synonymous SNV	ZBTB7C:NM_001039360:exon2:c.C1206T:p.T402T;	exonic	ENSG00000184828	synonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.C1206T:p.T402T;ENSG00000184828:ENST00000590800:exon4:c.C1206T:p.T402T;ENSG00000184828:ENST00000332053:exon1:c.C1206T:p.T402T;ENSG00000184828:ENST00000535628:exon2:c.C1206T:p.T402T;ENSG00000184828:ENST00000588982:exon3:c.C1206T:p.T402T;	0.983485079098092	0.866
18	45566273	G	C	18	48039902	y	y	exonic	ZBTB7C	synonymous SNV	ZBTB7C:NM_001039360:exon2:c.C1206G:p.T402T;	exonic	ENSG00000184828	synonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.C1206G:p.T402T;ENSG00000184828:ENST00000590800:exon4:c.C1206G:p.T402T;ENSG00000184828:ENST00000332053:exon1:c.C1206G:p.T402T;ENSG00000184828:ENST00000535628:exon2:c.C1206G:p.T402T;ENSG00000184828:ENST00000588982:exon3:c.C1206G:p.T402T;	0.1381995501285	0.326
18	45566273	G	T	18	48039902	y	y	exonic	ZBTB7C	synonymous SNV	ZBTB7C:NM_001039360:exon2:c.C1206A:p.T402T;	exonic	ENSG00000184828	synonymous SNV	ENSG00000184828:ENST00000586438:exon2:c.C1206A:p.T402T;ENSG00000184828:ENST00000590800:exon4:c.C1206A:p.T402T;ENSG00000184828:ENST00000332053:exon1:c.C1206A:p.T402T;ENSG00000184828:ENST00000535628:exon2:c.C1206A:p.T402T;ENSG00000184828:ENST00000588982:exon3:c.C1206A:p.T402T;	0.0491347237081057	0.176
18	45567493	C	A	18	48041122	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.00379136029722099	0.024
18	45567493	C	G	18	48041122	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.0113369556266532	0.048
18	45567493	C	T	18	48041122	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.0178820670925286	0.076
18	45567494	C	A	18	48041123	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.993121844404857	0.772
18	45567494	C	G	18	48041123	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.643896734343884	0.634
18	45567494	C	T	18	48041123	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.975278367877937	0.598
18	45567495	C	A	18	48041124	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999938990645747	0.95
18	45567495	C	G	18	48041124	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999938990645747	0.944
18	45567495	C	T	18	48041124	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999938990645747	0.952
18	45567496	T	A	18	48041125	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999970104448312	0.884
18	45567496	T	C	18	48041125	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999982151912279	0.892
18	45567496	T	G	18	48041125	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999982151912279	0.894
18	45567497	G	A	18	48041126	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.165096769756736	0.156
18	45567497	G	C	18	48041126	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.99991160739923	0.942
18	45567497	G	T	18	48041126	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.955337095648981	0.65
18	45567498	C	A	18	48041127	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.48661878005429E-5	0.0
18	45567498	C	G	18	48041127	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.28777437734905E-5	0.0
18	45567498	C	T	18	48041127	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.48661878005429E-5	0.0
18	45567499	A	C	18	48041128	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.042938303842802	0.39
18	45567499	A	G	18	48041128	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.85907857581005E-4	0.028
18	45567499	A	T	18	48041128	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.957623357013831	0.614
18	45567500	G	A	18	48041129	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.00975042806031E-5	0.0
18	45567500	G	C	18	48041129	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.1984895743E-4	0.126
18	45567500	G	T	18	48041129	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.38464677852254E-4	0.144
18	45567501	A	C	18	48041130	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00274864011056822	0.04
18	45567501	A	G	18	48041130	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.92133899576826E-5	0.0
18	45567501	A	T	18	48041130	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00351968754159134	0.07
18	45567502	G	A	18	48041131	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.52870362475586E-5	0.0
18	45567502	G	C	18	48041131	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.53080301872351E-4	0.032
18	45567502	G	T	18	48041131	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.60592063614906E-4	0.034
18	45567503	A	C	18	48041132	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0630289183123709	0.43
18	45567503	A	G	18	48041132	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.66085232118796E-4	0.03
18	45567503	A	T	18	48041132	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.121240618870982	0.476
18	45567504	C	A	18	48041133	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.79578228763282E-5	0.002
18	45567504	C	G	18	48041133	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.31845951523333E-5	0.0
18	45567504	C	T	18	48041133	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.01867459549258E-4	0.056
18	45567505	A	C	18	48041134	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.200845984655033	0.474
18	45567505	A	G	18	48041134	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0034199133839226	0.09
18	45567505	A	T	18	48041134	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.996781057140275	0.834
18	45567506	C	A	18	48041135	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.80341445523488E-4	0.0
18	45567506	C	G	18	48041135	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.72382870013758E-4	0.004
18	45567506	C	T	18	48041135	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0027866180132389	0.054
18	45598823	C	A	18	48072452	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00673681901663459	0.136
18	45598823	C	G	18	48072452	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00673681901663459	0.086
18	45598823	C	T	18	48072452	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0125225494723857	0.16
18	45598824	A	C	18	48072453	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.41856711030151E-4	0.002
18	45598824	A	G	18	48072453	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.41856711030151E-4	0.002
18	45598824	A	T	18	48072453	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.28314909454499E-4	0.002
18	45598825	G	A	18	48072454	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.14656354099398E-5	0.006
18	45598825	G	C	18	48072454	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.79529326766482E-5	0.0
18	45598825	G	T	18	48072454	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.79529326766482E-5	0.0
18	45598826	C	A	18	48072455	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.72353902135568E-5	0.074
18	45598826	C	G	18	48072455	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.20669146406361E-5	0.074
18	45598826	C	T	18	48072455	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.72353902135568E-5	0.066
18	45598827	T	A	18	48072456	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0143121892605687	0.164
18	45598827	T	C	18	48072456	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00898885966525237	0.148
18	45598827	T	G	18	48072456	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0159680011675288	0.15
18	45598828	C	A	18	48072457	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.6461900140206E-4	0.046
18	45598828	C	G	18	48072457	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.13889295159341E-4	0.072
18	45598828	C	T	18	48072457	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.94518466680308E-5	0.028
18	45598829	A	C	18	48072458	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	1.86170046746164E-5	0.052
18	45598829	A	G	18	48072458	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	1.86170046746164E-5	0.05
18	45598829	A	T	18	48072458	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	5.89171027224355E-5	0.12
18	45598830	C	A	18	48072459	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.01754660595877E-5	0.036
18	45598830	C	G	18	48072459	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.01754660595877E-5	0.03
18	45598830	C	T	18	48072459	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.56739179243733E-5	0.05
18	45598831	C	A	18	48072460	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.0123172024761357	0.146
18	45598831	C	G	18	48072460	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.00898700332337615	0.152
18	45598831	C	T	18	48072460	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.0137316807252887	0.152
18	45598832	T	A	18	48072461	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.00739645407884059	0.136
18	45598832	T	C	18	48072461	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.00560272435092874	0.128
18	45598832	T	G	18	48072461	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.00560272435092874	0.132
18	45598833	T	A	18	48072462	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	7.54579420252163E-5	0.102
18	45598833	T	C	18	48072462	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	6.7588740113604E-5	0.102
18	45598833	T	G	18	48072462	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	6.7588740113604E-5	0.102
18	45598980	G	A	18	48072609	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.669366998206188	0.772
18	45598980	G	C	18	48072609	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.669366998206188	0.78
18	45598980	G	T	18	48072609	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.669366998206188	0.78
18	45598981	A	C	18	48072610	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	8.49630937594934E-5	0.134
18	45598981	A	G	18	48072610	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	8.49630937594934E-5	0.136
18	45598981	A	T	18	48072610	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	8.49630937594934E-5	0.134
18	45598982	C	A	18	48072611	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	3.12236089081117E-4	0.162
18	45598982	C	G	18	48072611	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	3.12236089081117E-4	0.128
18	45598982	C	T	18	48072611	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	3.12236089081117E-4	0.194
18	45598983	T	A	18	48072612	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.08246966269583E-5	0.056
18	45598983	T	C	18	48072612	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	1.594612059789E-5	0.062
18	45598983	T	G	18	48072612	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	3.34934518698209E-5	0.07
18	45598984	G	A	18	48072613	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.60426270631631E-5	0.06
18	45598984	G	C	18	48072613	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.68946934743187E-5	0.022
18	45598984	G	T	18	48072613	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.49003595983767E-5	0.04
18	45598985	A	C	18	48072614	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0119938183961989	0.192
18	45598985	A	G	18	48072614	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0119938183961989	0.192
18	45598985	A	T	18	48072614	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0196120532895909	0.2
18	45598986	A	C	18	48072615	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.463969699356605	0.662
18	45598986	A	G	18	48072615	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.463969699356605	0.658
18	45598986	A	T	18	48072615	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.463969699356605	0.65
18	45598987	A	C	18	48072616	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.40582907047754E-5	0.102
18	45598987	A	G	18	48072616	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.40582907047754E-5	0.102
18	45598987	A	T	18	48072616	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.37345644296571E-5	0.102
18	45598988	T	A	18	48072617	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.37345644296571E-5	0.104
18	45598988	T	C	18	48072617	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.40582907047754E-5	0.108
18	45598988	T	G	18	48072617	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.40582907047754E-5	0.108
18	45598989	A	C	18	48072618	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.01538351862816E-4	0.06
18	45598989	A	G	18	48072618	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.01538351862816E-4	0.058
18	45598989	A	T	18	48072618	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.1432837861756E-4	0.094
18	45598990	G	A	18	48072619	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.64857229448119E-4	0.002
18	45598990	G	C	18	48072619	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.64857229448119E-4	0.002
18	45598990	G	T	18	48072619	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.64857229448119E-4	0.002
18	45598991	G	A	18	48072620	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.50908827319045E-5	0.0
18	45598991	G	C	18	48072620	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.41475706302981E-5	0.0
18	45598991	G	T	18	48072620	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.50908827319045E-5	0.0
18	45598992	G	A	18	48072621	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	5.48204592484763E-4	0.022
18	45598992	G	C	18	48072621	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.77945247904412E-4	0.006
18	45598992	G	T	18	48072621	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.32655120958712E-4	0.01
18	45598993	A	C	18	48072622	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00138394841304153	0.066
18	45598993	A	G	18	48072622	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00138394841304153	0.064
18	45598993	A	T	18	48072622	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00201835126553849	0.118
18	45603299	G	A	18	48076928	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.27456659313109E-5	0.0
18	45603299	G	C	18	48076928	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.27456659313109E-5	0.004
18	45603299	G	T	18	48076928	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.27456659313109E-5	0.0
18	45603300	T	A	18	48076929	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.006
18	45603300	T	C	18	48076929	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.008
18	45603300	T	G	18	48076929	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.006
18	45603301	A	C	18	48076930	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.80274866394675E-5	0.0
18	45603301	A	G	18	48076930	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.80274866394675E-5	0.0
18	45603301	A	T	18	48076930	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.27663100932972E-5	0.0
18	45603302	C	A	18	48076931	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.98553875911078E-4	0.002
18	45603302	C	G	18	48076931	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.14713062984084E-4	0.002
18	45603302	C	T	18	48076931	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.98553875911078E-4	0.004
18	45603303	T	A	18	48076932	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.96653435898131E-5	0.0
18	45603303	T	C	18	48076932	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.96653435898131E-5	0.0
18	45603303	T	G	18	48076932	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.96653435898131E-5	0.0
18	45603304	A	C	18	48076933	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.85260187059739E-4	0.004
18	45603304	A	G	18	48076933	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.85260187059739E-4	0.004
18	45603304	A	T	18	48076933	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.85260187059739E-4	0.004
18	45603305	A	C	18	48076934	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	5.15941453541388E-5	0.014
18	45603305	A	G	18	48076934	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	6.89925739660516E-5	0.026
18	45603305	A	T	18	48076934	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	5.15941453541388E-5	0.002
18	45603306	C	A	18	48076935	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.09469023002838E-4	0.004
18	45603306	C	G	18	48076935	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	7.34280463342776E-4	0.004
18	45603306	C	T	18	48076935	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	7.59435642788644E-4	0.004
18	45603307	C	A	18	48076936	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	2.05567792764038E-5	0.002
18	45603307	C	G	18	48076936	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	2.05567792764038E-5	0.004
18	45603307	C	T	18	48076936	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	2.05567792764038E-5	0.002
18	45603308	T	A	18	48076937	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	3.39457982047225E-5	0.0
18	45603308	T	C	18	48076937	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	3.27663100932972E-5	0.0
18	45603308	T	G	18	48076937	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	3.27663100932972E-5	0.0
18	45603309	G	A	18	48076938	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.68952365742707E-5	0.002
18	45603309	G	C	18	48076938	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.68952365742707E-5	0.004
18	45603309	G	T	18	48076938	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.68952365742707E-5	0.002
18	45603373	C	A	18	48077002	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	9.88268727426181E-4	0.01
18	45603373	C	G	18	48077002	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	9.88268727426181E-4	0.008
18	45603373	C	T	18	48077002	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	9.88268727426181E-4	0.006
18	45603374	C	A	18	48077003	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	8.13951347297017E-5	0.004
18	45603374	C	G	18	48077003	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	8.13951347297017E-5	0.0
18	45603374	C	T	18	48077003	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	6.08692400722682E-5	0.0
18	45603375	C	A	18	48077004	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.04243866858565E-5	0.0
18	45603375	C	G	18	48077004	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.04243866858565E-5	0.0
18	45603375	C	T	18	48077004	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.04243866858565E-5	0.0
18	45603376	T	A	18	48077005	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	6.552751562108E-5	0.006
18	45603376	T	C	18	48077005	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	6.552751562108E-5	0.004
18	45603376	T	G	18	48077005	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	6.552751562108E-5	0.004
18	45603377	T	A	18	48077006	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.80274866394675E-5	0.0
18	45603377	T	C	18	48077006	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.80274866394675E-5	0.01
18	45603377	T	G	18	48077006	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.80274866394675E-5	0.008
18	45603378	C	A	18	48077007	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.49745092444763E-5	0.0
18	45603378	C	G	18	48077007	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.49745092444763E-5	0.0
18	45603378	C	T	18	48077007	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.77382407657072E-5	0.0
18	45603379	C	A	18	48077008	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.22319008290309E-5	0.0
18	45603379	C	G	18	48077008	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.22319008290309E-5	0.0
18	45603379	C	T	18	48077008	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.22319008290309E-5	0.0
18	45603380	A	C	18	48077009	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.41069364790736E-5	0.056
18	45603380	A	G	18	48077009	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.41069364790736E-5	0.096
18	45603380	A	T	18	48077009	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.80274866394675E-5	0.0
18	45603381	G	A	18	48077010	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.7749166663215E-5	0.0
18	45603381	G	C	18	48077010	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.01163773767764E-5	0.0
18	45603381	G	T	18	48077010	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.7749166663215E-5	0.002
18	45603382	C	A	18	48077011	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.34280463342776E-4	0.004
18	45603382	C	G	18	48077011	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.34280463342776E-4	0.008
18	45603382	C	T	18	48077011	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.34280463342776E-4	0.004
18	45603383	A	C	18	48077012	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.3994564522384E-5	0.012
18	45603383	A	G	18	48077012	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.3994564522384E-5	0.014
18	45603383	A	T	18	48077012	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.3994564522384E-5	0.008
18	45603384	A	C	18	48077013	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89925739660516E-5	0.006
18	45603384	A	G	18	48077013	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89925739660516E-5	0.006
18	45603384	A	T	18	48077013	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89925739660516E-5	0.008
18	45603385	A	C	18	48077014	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.3468224497129E-4	0.006
18	45603385	A	G	18	48077014	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.3468224497129E-4	0.004
18	45603385	A	T	18	48077014	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.43701838282233E-4	0.004
18	45603386	G	A	18	48077015	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.34280463342776E-4	0.004
18	45603386	G	C	18	48077015	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.34280463342776E-4	0.006
18	45603386	G	T	18	48077015	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.34280463342776E-4	0.004
18	45614033	T	A	18	48087662	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.42005417025298E-5	0.0
18	45614033	T	C	18	48087662	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.42005417025298E-5	0.0
18	45614033	T	G	18	48087662	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.42005417025298E-5	0.0
18	45614034	C	A	18	48087663	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614034	C	G	18	48087663	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614034	C	T	18	48087663	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614035	A	C	18	48087664	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614035	A	G	18	48087664	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614035	A	T	18	48087664	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614036	T	A	18	48087665	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614036	T	C	18	48087665	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614036	T	G	18	48087665	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614037	G	A	18	48087666	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.92559286361592E-5	0.034
18	45614037	G	C	18	48087666	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.92559286361592E-5	0.016
18	45614037	G	T	18	48087666	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.92559286361592E-5	0.018
18	45614038	T	A	18	48087667	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614038	T	C	18	48087667	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614038	T	G	18	48087667	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614039	A	C	18	48087668	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614039	A	G	18	48087668	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614039	A	T	18	48087668	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614040	C	A	18	48087669	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.92559286361592E-5	0.018
18	45614040	C	G	18	48087669	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.92559286361592E-5	0.016
18	45614040	C	T	18	48087669	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	4.92559286361592E-5	0.018
18	45614041	C	A	18	48087670	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.92559286361592E-5	0.018
18	45614041	C	G	18	48087670	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.92559286361592E-5	0.016
18	45614041	C	T	18	48087670	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.92559286361592E-5	0.012
18	45614042	T	A	18	48087671	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614042	T	C	18	48087671	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614042	T	G	18	48087671	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	1.89552819446206E-5	0.002
18	45614043	G	A	18	48087672	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.92559286361592E-5	0.018
18	45614043	G	C	18	48087672	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.92559286361592E-5	0.016
18	45614043	G	T	18	48087672	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.92559286361592E-5	0.018
18	45614168	C	A	18	48087797	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	1.0288925866825E-5	0.004
18	45614168	C	G	18	48087797	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	1.0288925866825E-5	0.002
18	45614168	C	T	18	48087797	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	1.0288925866825E-5	0.002
18	45614169	T	A	18	48087798	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	9.57123356397867E-5	0.016
18	45614169	T	C	18	48087798	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	9.57123356397867E-5	0.012
18	45614169	T	G	18	48087798	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	9.57123356397867E-5	0.012
18	45614170	C	A	18	48087799	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	9.57123356397867E-5	0.016
18	45614170	C	G	18	48087799	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	9.57123356397867E-5	0.016
18	45614170	C	T	18	48087799	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	9.57123356397867E-5	0.016
18	45614171	T	A	18	48087800	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	9.57123356397867E-5	0.016
18	45614171	T	C	18	48087800	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	9.57123356397867E-5	0.012
18	45614171	T	G	18	48087800	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	9.57123356397867E-5	0.012
18	45614172	A	C	18	48087801	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614172	A	G	18	48087801	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614172	A	T	18	48087801	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614173	A	C	18	48087802	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.57123356397867E-5	0.012
18	45614173	A	G	18	48087802	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.57123356397867E-5	0.012
18	45614173	A	T	18	48087802	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.57123356397867E-5	0.016
18	45614174	A	C	18	48087803	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614174	A	G	18	48087803	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614174	A	T	18	48087803	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614175	A	C	18	48087804	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614175	A	G	18	48087804	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614175	A	T	18	48087804	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614176	T	A	18	48087805	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.57123356397867E-5	0.014
18	45614176	T	C	18	48087805	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.57123356397867E-5	0.012
18	45614176	T	G	18	48087805	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.57123356397867E-5	0.012
18	45614177	A	C	18	48087806	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614177	A	G	18	48087806	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614177	A	T	18	48087806	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614178	A	C	18	48087807	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614178	A	G	18	48087807	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614178	A	T	18	48087807	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.58927937202005E-5	0.002
18	45614179	A	C	18	48087808	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.99153316237132E-5	0.0
18	45614179	A	G	18	48087808	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.99153316237132E-5	0.0
18	45614179	A	T	18	48087808	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.99153316237132E-5	0.0
18	45614180	T	A	18	48087809	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.68284073685752E-5	0.004
18	45614180	T	C	18	48087809	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.68284073685752E-5	0.004
18	45614180	T	G	18	48087809	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.68284073685752E-5	0.004
18	45614181	A	C	18	48087810	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614181	A	G	18	48087810	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614181	A	T	18	48087810	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.45277156108894E-5	0.0
18	45614619	C	A	18	48088248	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.11261789567884E-5	0.022
18	45614619	C	G	18	48088248	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	9.11261789567884E-5	0.022
18	45614619	C	T	18	48088248	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.54562855698042E-4	0.022
18	45614620	C	A	18	48088249	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.63826396113866E-4	0.044
18	45614620	C	G	18	48088249	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.63826396113866E-4	0.044
18	45614620	C	T	18	48088249	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.17982120861566E-4	0.044
18	45614621	A	C	18	48088250	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.59706358747764E-5	0.0
18	45614621	A	G	18	48088250	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.59706358747764E-5	0.0
18	45614621	A	T	18	48088250	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.62965044666173E-5	0.0
18	45614622	G	A	18	48088251	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.6128894829304E-5	0.002
18	45614622	G	C	18	48088251	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.6128894829304E-5	0.004
18	45614622	G	T	18	48088251	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.6128894829304E-5	0.002
18	45614623	T	A	18	48088252	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.018
18	45614623	T	C	18	48088252	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.004
18	45614623	T	G	18	48088252	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.004
18	45614624	T	A	18	48088253	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.104
18	45614624	T	C	18	48088253	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.004
18	45614624	T	G	18	48088253	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.49702646665041E-5	0.004
18	45614625	A	C	18	48088254	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	5.97728621093963E-5	0.0
18	45614625	A	G	18	48088254	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	5.97728621093963E-5	0.0
18	45614625	A	T	18	48088254	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	6.59706358747764E-5	0.0
18	45614626	C	A	18	48088255	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	8.06155505055908E-5	0.164
18	45614626	C	G	18	48088255	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	8.06155505055908E-5	0.164
18	45614626	C	T	18	48088255	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	1.49558424125564E-4	0.156
18	45614627	C	A	18	48088256	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	7.52881759733747E-5	0.0
18	45614627	C	G	18	48088256	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	7.52881759733747E-5	0.004
18	45614627	C	T	18	48088256	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	7.52881759733747E-5	0.0
18	45614628	T	A	18	48088257	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	6.59706358747764E-5	0.0
18	45614628	T	C	18	48088257	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	6.59706358747764E-5	0.0
18	45614628	T	G	18	48088257	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	6.59706358747764E-5	0.0
18	45614629	T	A	18	48088258	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	9.5249215656426E-4	0.03
18	45614629	T	C	18	48088258	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.43701838282233E-4	0.026
18	45614629	T	G	18	48088258	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.43701838282233E-4	0.026
18	45614725	G	A	18	48088354	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	7.3525528897954E-5	0.002
18	45614725	G	C	18	48088354	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	7.3525528897954E-5	0.004
18	45614725	G	T	18	48088354	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	7.3525528897954E-5	0.004
18	45614726	C	A	18	48088355	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	6.552751562108E-5	0.004
18	45614726	C	G	18	48088355	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	4.47039489069415E-5	0.004
18	45614726	C	T	18	48088355	n	y	intronic	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	6.552751562108E-5	0.004
18	45614727	C	A	18	48088356	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	8.22860045406435E-4	0.014
18	45614727	C	G	18	48088356	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	8.22860045406435E-4	0.014
18	45614727	C	T	18	48088356	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	8.22860045406435E-4	0.014
18	45614728	T	A	18	48088357	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.00168095546394821	0.008
18	45614728	T	C	18	48088357	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.00131227968434435	0.008
18	45614728	T	G	18	48088357	n	y	intronic	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.00131227968434435	0.008
18	45614729	T	A	18	48088358	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.45170072801036E-5	0.02
18	45614729	T	C	18	48088358	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.45170072801036E-5	0.02
18	45614729	T	G	18	48088358	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.45170072801036E-5	0.02
18	45614730	G	A	18	48088359	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.17825650598919E-5	0.0
18	45614730	G	C	18	48088359	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.17825650598919E-5	0.0
18	45614730	G	T	18	48088359	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.17825650598919E-5	0.0
18	45614731	A	C	18	48088360	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00131227968434435	0.008
18	45614731	A	G	18	48088360	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00131227968434435	0.008
18	45614731	A	T	18	48088360	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00131227968434435	0.008
18	45614732	G	A	18	48088361	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.6128894829304E-5	0.002
18	45614732	G	C	18	48088361	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.6128894829304E-5	0.004
18	45614732	G	T	18	48088361	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.6128894829304E-5	0.004
18	45614733	G	A	18	48088362	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.57076726553018E-5	0.0
18	45614733	G	C	18	48088362	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.57076726553018E-5	0.0
18	45614733	G	T	18	48088362	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.57076726553018E-5	0.0
18	45614734	G	A	18	48088363	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.4056203239404E-5	0.038
18	45614734	G	C	18	48088363	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.4056203239404E-5	0.038
18	45614734	G	T	18	48088363	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.4056203239404E-5	0.038
18	45614735	A	C	18	48088364	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.44782069694124E-5	0.004
18	45614735	A	G	18	48088364	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	7.44782069694124E-5	0.004
18	45614735	A	T	18	48088364	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	3.39529611572298E-5	0.004
18	45614736	T	A	18	48088365	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.3994564522384E-5	0.014
18	45614736	T	C	18	48088365	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.3994564522384E-5	0.014
18	45614736	T	G	18	48088365	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.3994564522384E-5	0.014
18	45614737	G	A	18	48088366	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89210916601576E-5	0.0
18	45614737	G	C	18	48088366	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89210916601576E-5	0.0
18	45614737	G	T	18	48088366	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89210916601576E-5	0.0
18	45614738	A	C	18	48088367	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89925739660516E-5	0.006
18	45614738	A	G	18	48088367	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89925739660516E-5	0.006
18	45614738	A	T	18	48088367	n	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	6.89925739660516E-5	0.006
18	45663370	A	C	18	48136999	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.59984896076755E-4	0.028
18	45663370	A	G	18	48136999	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0013223990469411	0.026
18	45663370	A	T	18	48136999	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	4.76110562514431E-4	0.028
18	45663371	G	A	18	48137000	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.62090682422895E-4	0.112
18	45663371	G	C	18	48137000	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	1.32533080787386E-4	0.004
18	45663371	G	T	18	48137000	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	8.85828911043959E-5	0.0
18	45663372	A	C	18	48137001	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.557727424568989	0.51
18	45663372	A	G	18	48137001	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.701400228547849	0.514
18	45663372	A	T	18	48137001	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.586404433683317	0.706
18	45663373	C	A	18	48137002	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999362129222101	0.796
18	45663373	C	G	18	48137002	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999807026487704	0.916
18	45663373	C	T	18	48137002	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.999533075548038	0.97
18	45663374	C	A	18	48137003	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.016802402864854	0.166
18	45663374	C	G	18	48137003	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0167860503756179	0.198
18	45663374	C	T	18	48137003	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.00134811995626673	0.046
18	45663375	C	A	18	48137004	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0655535883464448	0.308
18	45663375	C	G	18	48137004	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	0.0149390707948744	0.32
18	45663375	C	T	18	48137004	y	y	intronic	ZBTB7C	.	.	intronic	ENSG00000184828	.	.	2.76658710311162E-4	0.082
18	45663376	A	C	18	48137005	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999967305459904	0.936
18	45663376	A	G	18	48137005	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999849759187601	0.892
18	45663376	A	T	18	48137005	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999967305459904	0.942
18	45663377	C	A	18	48137006	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999938990645747	0.936
18	45663377	C	G	18	48137006	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999960200702261	0.934
18	45663377	C	T	18	48137006	y	y	splicing	ZBTB7C	.	.	splicing	ENSG00000184828	.	.	0.999938990645747	0.942
18	45663378	C	A	18	48137007	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.999862898301645	0.956
18	45663378	C	G	18	48137007	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.999982121457068	0.892
18	45663378	C	T	18	48137007	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.999892265274078	0.986
18	45663379	T	A	18	48137008	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.961626115087108	0.748
18	45663379	T	C	18	48137008	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.98896155187105	0.726
18	45663379	T	G	18	48137008	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.94172453346728	0.798
18	45663380	G	A	18	48137009	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.829819770812161	0.532
18	45663380	G	C	18	48137009	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.0124147001497364	0.178
18	45663380	G	T	18	48137009	y	y	UTR5	ZBTB7C	.	.	UTR5	ENSG00000184828	.	.	0.00258319824328623	0.13
18	46065681	G	A	18	48539310	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	2.08925419703343E-5	0.004
18	46065681	G	C	18	48539310	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	2.30977125413512E-5	0.01
18	46065681	G	T	18	48539310	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	4.18895201976861E-4	0.052
18	46065682	A	C	18	48539311	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.899374758469808	0.814
18	46065682	A	G	18	48539311	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.993870533165677	0.92
18	46065682	A	T	18	48539311	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.982168652028883	0.914
18	46065683	G	A	18	48539312	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.999486878243754	0.974
18	46065683	G	C	18	48539312	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.999847607171577	0.828
18	46065683	G	T	18	48539312	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.999217702890556	0.984
18	46065684	G	A	18	48539313	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999967001206676	0.926
18	46065684	G	C	18	48539313	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999967001206676	0.93
18	46065684	G	T	18	48539313	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999967001206676	0.928
18	46065685	T	A	18	48539314	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999982313960041	0.924
18	46065685	T	C	18	48539314	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999777183513124	0.85
18	46065685	T	G	18	48539314	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999982313960041	0.928
18	46065686	G	A	18	48539315	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00166349685749283	0.03
18	46065686	G	C	18	48539315	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.969336522797533	0.68
18	46065686	G	T	18	48539315	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.951108906645121	0.606
18	46065687	A	C	18	48539316	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.915723739165714	0.624
18	46065687	A	G	18	48539316	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.980474601052222	0.756
18	46065687	A	T	18	48539316	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.993347400721884	0.77
18	46065688	G	A	18	48539317	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999559494047076	0.926
18	46065688	G	C	18	48539317	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998593561995161	0.834
18	46065688	G	T	18	48539317	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.9993806934044	0.916
18	46065689	C	A	18	48539318	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00927268690492953	0.168
18	46065689	C	G	18	48539318	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00770700081794135	0.058
18	46065689	C	T	18	48539318	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00172778369034865	0.032
18	46065690	A	C	18	48539319	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00259898271596235	0.036
18	46065690	A	G	18	48539319	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00277629154161147	0.048
18	46065690	A	T	18	48539319	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00277629154161147	0.02
18	46065691	T	A	18	48539320	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00384127512720704	0.024
18	46065691	T	C	18	48539320	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00621215999445383	0.036
18	46065691	T	G	18	48539320	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00259898271596235	0.03
18	46066117	T	A	18	48539746	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.755752381673347	0.48
18	46066117	T	C	18	48539746	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0443114701329251	0.174
18	46066117	T	G	18	48539746	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.501518675687259	0.41
18	46066118	T	A	18	48539747	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.294358951524337	0.48
18	46066118	T	C	18	48539747	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0307302367344019	0.272
18	46066118	T	G	18	48539747	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0721548611511959	0.376
18	46066119	T	A	18	48539748	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.999973475879239	0.964
18	46066119	T	C	18	48539748	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0213927027840966	0.188
18	46066119	T	G	18	48539748	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.696749114960026	0.466
18	46066120	G	A	18	48539749	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0537305981587571	0.388
18	46066120	G	C	18	48539749	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0483340236259745	0.336
18	46066120	G	T	18	48539749	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.043302874998683	0.294
18	46066121	T	A	18	48539750	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.411144472229443	0.37
18	46066121	T	C	18	48539750	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00317073803357685	0.226
18	46066121	T	G	18	48539750	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.323063860631364	0.32
18	46066122	T	A	18	48539751	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.311215934069351	0.342
18	46066122	T	C	18	48539751	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0122334829999329	0.184
18	46066122	T	G	18	48539751	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.155010007184115	0.288
18	46066123	T	A	18	48539752	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.095679870484208	0.25
18	46066123	T	C	18	48539752	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00186730528772543	0.078
18	46066123	T	G	18	48539752	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.11180263205697	0.18
18	46066124	T	A	18	48539753	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.999913254761022	0.97
18	46066124	T	C	18	48539753	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.280105358289476	0.308
18	46066124	T	G	18	48539753	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.847375444894486	0.696
18	46066125	G	A	18	48539754	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0247772783042817	0.162
18	46066125	G	C	18	48539754	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00243554572395686	0.06
18	46066125	G	T	18	48539754	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0158212312085845	0.156
18	46066126	A	C	18	48539755	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	7.47967240640845E-4	0.09
18	46066126	A	G	18	48539755	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.606665704030418	0.464
18	46066126	A	T	18	48539755	y	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.08250611488976E-4	0.012
18	46066127	A	C	18	48539756	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999993672935256	0.94
18	46066127	A	G	18	48539756	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999993672935256	0.94
18	46066127	A	T	18	48539756	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999993672935256	0.944
18	46066128	G	A	18	48539757	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999991582404039	0.938
18	46066128	G	C	18	48539757	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999978278263889	0.938
18	46066128	G	T	18	48539757	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999978278263889	0.936
18	46066129	C	A	18	48539758	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00300125020114838	0.106
18	46066129	C	G	18	48539758	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00315863663087398	0.136
18	46066129	C	T	18	48539758	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.123650194570723	0.472
18	46066130	C	A	18	48539759	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.016236541595391	0.218
18	46066130	C	G	18	48539759	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0148114232883596	0.25
18	46066130	C	T	18	48539759	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0274747165420532	0.388
18	46066200	G	A	18	48539829	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00318059392311618	0.022
18	46066200	G	C	18	48539829	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00185960589629353	0.038
18	46066200	G	T	18	48539829	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00493886831753197	0.18
18	46066201	A	C	18	48539830	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.74555484368248	0.612
18	46066201	A	G	18	48539830	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.990644546636277	0.77
18	46066201	A	T	18	48539830	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.991992869484897	0.736
18	46066202	G	A	18	48539831	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.999973424248567	0.988
18	46066202	G	C	18	48539831	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.99999305044555	0.974
18	46066202	G	T	18	48539831	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.999952069343854	0.952
18	46066203	G	A	18	48539832	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999985353572514	0.864
18	46066203	G	C	18	48539832	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.99998382861657	0.838
18	46066203	G	T	18	48539832	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.99998382861657	0.856
18	46066204	T	A	18	48539833	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999983063946468	0.668
18	46066204	T	C	18	48539833	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.85741993269483	0.48
18	46066204	T	G	18	48539833	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999983063946468	0.656
18	46066205	A	C	18	48539834	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999786563225892	0.874
18	46066205	A	G	18	48539834	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.847563376592283	0.49
18	46066205	A	T	18	48539834	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.99707200041337	0.856
18	46066206	G	A	18	48539835	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00657188661089783	0.17
18	46066206	G	C	18	48539835	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00302852967679535	0.174
18	46066206	G	T	18	48539835	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00240145147533818	0.058
18	46066207	G	A	18	48539836	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999477613303074	0.876
18	46066207	G	C	18	48539836	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999280903358454	0.738
18	46066207	G	T	18	48539836	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999920414900349	0.906
18	46066208	G	A	18	48539837	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.94817307892753E-4	0.066
18	46066208	G	C	18	48539837	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.87923968263182E-4	0.108
18	46066208	G	T	18	48539837	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.83821743362191E-4	0.054
18	46066209	A	C	18	48539838	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.39713856726088E-4	0.004
18	46066209	A	G	18	48539838	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.86364411037041E-4	0.004
18	46066209	A	T	18	48539838	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.62366799521582E-4	0.004
18	46066210	G	A	18	48539839	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.7122060793778E-4	0.016
18	46066210	G	C	18	48539839	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.88051543750764E-4	0.002
18	46066210	G	T	18	48539839	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.15689367907025E-4	0.002
18	46066427	C	A	18	48540056	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.31767346501741E-4	0.002
18	46066427	C	G	18	48540056	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.31767346501741E-4	0.004
18	46066427	C	T	18	48540056	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.19540942783897E-4	0.002
18	46066428	C	A	18	48540057	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00144687038435988	0.014
18	46066428	C	G	18	48540057	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00159463682682201	0.018
18	46066428	C	T	18	48540057	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00144687038435988	0.014
18	46066429	G	A	18	48540058	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	2.829222058231E-4	0.002
18	46066429	G	C	18	48540058	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	2.36536136278701E-4	0.002
18	46066429	G	T	18	48540058	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	2.829222058231E-4	0.002
18	46066430	G	A	18	48540059	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	1.91136286052579E-4	0.002
18	46066430	G	C	18	48540059	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	1.59796428612251E-4	0.002
18	46066430	G	T	18	48540059	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	1.91136286052579E-4	0.002
18	46066431	T	A	18	48540060	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	3.4822847715874E-4	0.006
18	46066431	T	C	18	48540060	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	2.17802759667265E-4	0.006
18	46066431	T	G	18	48540060	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	2.91138337780979E-4	0.006
18	46066432	G	A	18	48540061	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00135524572126302	0.01
18	46066432	G	C	18	48540061	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00149807850018431	0.01
18	46066432	G	T	18	48540061	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00149807850018431	0.01
18	46066433	A	C	18	48540062	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00753067662379521	0.098
18	46066433	A	G	18	48540062	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00753067662379521	0.096
18	46066433	A	T	18	48540062	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0202235367507461	0.154
18	46066434	G	A	18	48540063	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00639915885651627	0.034
18	46066434	G	C	18	48540063	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00430955476585136	0.048
18	46066434	G	T	18	48540063	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00738506323474107	0.036
18	46066435	C	A	18	48540064	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00764482882370293	0.032
18	46066435	C	G	18	48540064	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00764482882370293	0.034
18	46066435	C	T	18	48540064	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00692000194525311	0.034
18	46066436	C	A	18	48540065	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00764482882370293	0.03
18	46066436	C	G	18	48540065	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00738506323474107	0.03
18	46066436	C	T	18	48540065	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00764482882370293	0.028
18	46066437	C	A	18	48540066	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.70037401259287E-4	0.002
18	46066437	C	G	18	48540066	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.23481599293639E-4	0.002
18	46066437	C	T	18	48540066	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.70037401259287E-4	0.004
18	46066706	C	A	18	48540335	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0010260886888824	0.026
18	46066706	C	G	18	48540335	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00104295738754284	0.022
18	46066706	C	T	18	48540335	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0010260886888824	0.034
18	46066707	A	C	18	48540336	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.0677376706264E-4	0.0
18	46066707	A	G	18	48540336	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.0677376706264E-4	0.0
18	46066707	A	T	18	48540336	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.0677376706264E-4	0.004
18	46066708	G	A	18	48540337	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	7.31356845952202E-5	0.0
18	46066708	G	C	18	48540337	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.06942552914845E-4	0.002
18	46066708	G	T	18	48540337	n	y	intronic	CTIF	.	.	UTR5	ENSG00000134030	.	.	1.06942552914845E-4	0.012
18	46066709	G	A	18	48540338	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	0.00150192935641824	0.054
18	46066709	G	C	18	48540338	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	0.00150192935641824	0.034
18	46066709	G	T	18	48540338	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	0.00150192935641824	0.056
18	46066710	T	A	18	48540339	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	1.96181460413566E-4	0.004
18	46066710	T	C	18	48540339	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	2.16244804631147E-4	0.006
18	46066710	T	G	18	48540339	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030	.	.	2.16244804631147E-4	0.006
18	46066711	A	C	18	48540340	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.49011026660498E-4	0.008
18	46066711	A	G	18	48540340	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.49011026660498E-4	0.008
18	46066711	A	T	18	48540340	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.14079861889314E-4	0.008
18	46066712	A	C	18	48540341	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.71896885480611E-4	0.0
18	46066712	A	G	18	48540341	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.71896885480611E-4	0.0
18	46066712	A	T	18	48540341	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.55947530413898E-4	0.0
18	46066713	C	A	18	48540342	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.21003527317923E-4	0.008
18	46066713	C	G	18	48540342	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.21003527317923E-4	0.008
18	46066713	C	T	18	48540342	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.21003527317923E-4	0.012
18	46066714	T	A	18	48540343	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.71983976998822E-5	0.0
18	46066714	T	C	18	48540343	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.71983976998822E-5	0.002
18	46066714	T	G	18	48540343	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.71983976998822E-5	0.002
18	46066715	G	A	18	48540344	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0025789691367916	0.05
18	46066715	G	C	18	48540344	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00150192935641824	0.062
18	46066715	G	T	18	48540344	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00150192935641824	0.078
18	46066716	T	A	18	48540345	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.62686764967991E-4	0.0
18	46066716	T	C	18	48540345	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.16614120099953E-4	0.002
18	46066716	T	G	18	48540345	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.16614120099953E-4	0.008
18	46145897	C	A	18	48619526	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0317176883327749	0.166
18	46145897	C	G	18	48619526	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.018133042847595	0.132
18	46145897	C	T	18	48619526	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0414406179695469	0.318
18	46145898	T	A	18	48619527	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.102214295883834	0.44
18	46145898	T	C	18	48619527	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.010287348726821	0.146
18	46145898	T	G	18	48619527	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0789162476252817	0.376
18	46145899	T	A	18	48619528	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00587932057665569	0.092
18	46145899	T	C	18	48619528	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.88232935313607E-4	0.046
18	46145899	T	G	18	48619528	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00296440092699018	0.14
18	46145900	T	A	18	48619529	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.61566883434706E-4	0.186
18	46145900	T	C	18	48619529	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.08383220873633E-5	0.048
18	46145900	T	G	18	48619529	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.45122678626861E-4	0.176
18	46145901	C	A	18	48619530	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00890421023462289	0.178
18	46145901	C	G	18	48619530	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00412020239723981	0.248
18	46145901	C	T	18	48619530	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.36232005213683E-5	0.002
18	46145902	C	A	18	48619531	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0133860502902062	0.146
18	46145902	C	G	18	48619531	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0129431174635315	0.126
18	46145902	C	T	18	48619531	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00130327957653168	0.0
18	46145903	C	A	18	48619532	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.291475686394204	0.378
18	46145903	C	G	18	48619532	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.369393499317219	0.422
18	46145903	C	T	18	48619532	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00586575449191071	0.064
18	46145904	A	C	18	48619533	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.21256036418125E-4	0.028
18	46145904	A	G	18	48619533	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.04818225270416E-4	0.022
18	46145904	A	T	18	48619533	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.07595021390683E-4	0.046
18	46145905	C	A	18	48619534	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.63394014108392E-4	0.01
18	46145905	C	G	18	48619534	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.843662015275576	0.548
18	46145905	C	T	18	48619534	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.05491253694464E-4	0.014
18	46145906	C	A	18	48619535	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.995495498079711	0.9
18	46145906	C	G	18	48619535	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999907587222412	0.968
18	46145906	C	T	18	48619535	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.135540184783479	0.232
18	46145907	A	C	18	48619536	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999988307841649	0.926
18	46145907	A	G	18	48619536	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999988307841649	0.926
18	46145907	A	T	18	48619536	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999988307841649	0.926
18	46145908	G	A	18	48619537	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999981808176352	0.916
18	46145908	G	C	18	48619537	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999981808176352	0.916
18	46145908	G	T	18	48619537	y	y	splicing	CTIF	.	.	splicing	ENSG00000134030	.	.	0.999981808176352	0.916
18	46145909	T	A	18	48619538	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	9.46005083409443E-6	0.0
18	46145909	T	C	18	48619538	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	9.06261303985316E-5	0.016
18	46145909	T	G	18	48619538	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	2.34462650825402E-5	0.052
18	46145910	C	A	18	48619539	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00880147616667514	0.094
18	46145910	C	G	18	48619539	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.0022480474454022	0.034
18	46145910	C	T	18	48619539	y	y	UTR5	CTIF	.	.	UTR5	ENSG00000134030	.	.	0.00169435100701319	0.028
18	46146114	C	A	18	48619743	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon2:c.C178A:p.Q60K;CTIF:NM_001142397:exon3:c.C178A:p.Q60K;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon2:c.C178A:p.Q60K;ENSG00000134030:ENST00000588345:exon2:c.C178A:p.Q60K;ENSG00000134030:ENST00000256413:exon2:c.C178A:p.Q60K;ENSG00000134030:ENST00000382998:exon3:c.C178A:p.Q60K;ENSG00000134030:ENST00000591412:exon2:c.C178A:p.Q60K;ENSG00000134030:ENST00000587752:exon2:c.C178A:p.Q60K;	0.805566662953591	0.676
18	46146114	C	G	18	48619743	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon2:c.C178G:p.Q60E;CTIF:NM_001142397:exon3:c.C178G:p.Q60E;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon2:c.C178G:p.Q60E;ENSG00000134030:ENST00000588345:exon2:c.C178G:p.Q60E;ENSG00000134030:ENST00000256413:exon2:c.C178G:p.Q60E;ENSG00000134030:ENST00000382998:exon3:c.C178G:p.Q60E;ENSG00000134030:ENST00000591412:exon2:c.C178G:p.Q60E;ENSG00000134030:ENST00000587752:exon2:c.C178G:p.Q60E;	0.690048970365022	0.474
18	46146114	C	T	18	48619743	y	y	exonic	CTIF	stopgain SNV	CTIF:NM_014772:exon2:c.C178T:p.Q60X;CTIF:NM_001142397:exon3:c.C178T:p.Q60X;	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000591387:exon2:c.C178T:p.Q60X;ENSG00000134030:ENST00000588345:exon2:c.C178T:p.Q60X;ENSG00000134030:ENST00000256413:exon2:c.C178T:p.Q60X;ENSG00000134030:ENST00000382998:exon3:c.C178T:p.Q60X;ENSG00000134030:ENST00000591412:exon2:c.C178T:p.Q60X;ENSG00000134030:ENST00000587752:exon2:c.C178T:p.Q60X;	0.990306958578938	0.732
18	46146115	A	C	18	48619744	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon2:c.A179C:p.Q60P;CTIF:NM_001142397:exon3:c.A179C:p.Q60P;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon2:c.A179C:p.Q60P;ENSG00000134030:ENST00000588345:exon2:c.A179C:p.Q60P;ENSG00000134030:ENST00000256413:exon2:c.A179C:p.Q60P;ENSG00000134030:ENST00000382998:exon3:c.A179C:p.Q60P;ENSG00000134030:ENST00000591412:exon2:c.A179C:p.Q60P;ENSG00000134030:ENST00000587752:exon2:c.A179C:p.Q60P;	0.993716621826756	0.89
18	46146115	A	G	18	48619744	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon2:c.A179G:p.Q60R;CTIF:NM_001142397:exon3:c.A179G:p.Q60R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon2:c.A179G:p.Q60R;ENSG00000134030:ENST00000588345:exon2:c.A179G:p.Q60R;ENSG00000134030:ENST00000256413:exon2:c.A179G:p.Q60R;ENSG00000134030:ENST00000382998:exon3:c.A179G:p.Q60R;ENSG00000134030:ENST00000591412:exon2:c.A179G:p.Q60R;ENSG00000134030:ENST00000587752:exon2:c.A179G:p.Q60R;	0.98854823917303	0.876
18	46146115	A	T	18	48619744	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon2:c.A179T:p.Q60L;CTIF:NM_001142397:exon3:c.A179T:p.Q60L;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon2:c.A179T:p.Q60L;ENSG00000134030:ENST00000588345:exon2:c.A179T:p.Q60L;ENSG00000134030:ENST00000256413:exon2:c.A179T:p.Q60L;ENSG00000134030:ENST00000382998:exon3:c.A179T:p.Q60L;ENSG00000134030:ENST00000591412:exon2:c.A179T:p.Q60L;ENSG00000134030:ENST00000587752:exon2:c.A179T:p.Q60L;	0.987191461447107	0.842
18	46146116	G	A	18	48619745	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon2:c.G180A:p.Q60Q;CTIF:NM_001142397:exon3:c.G180A:p.Q60Q;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000591387:exon2:c.G180A:p.Q60Q;ENSG00000134030:ENST00000588345:exon2:c.G180A:p.Q60Q;ENSG00000134030:ENST00000256413:exon2:c.G180A:p.Q60Q;ENSG00000134030:ENST00000382998:exon3:c.G180A:p.Q60Q;ENSG00000134030:ENST00000591412:exon2:c.G180A:p.Q60Q;ENSG00000134030:ENST00000587752:exon2:c.G180A:p.Q60Q;	0.998008223209697	0.944
18	46146116	G	C	18	48619745	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon2:c.G180C:p.Q60H;CTIF:NM_001142397:exon3:c.G180C:p.Q60H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon2:c.G180C:p.Q60H;ENSG00000134030:ENST00000588345:exon2:c.G180C:p.Q60H;ENSG00000134030:ENST00000256413:exon2:c.G180C:p.Q60H;ENSG00000134030:ENST00000382998:exon3:c.G180C:p.Q60H;ENSG00000134030:ENST00000591412:exon2:c.G180C:p.Q60H;ENSG00000134030:ENST00000587752:exon2:c.G180C:p.Q60H;	0.999978151183659	0.972
18	46146116	G	T	18	48619745	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon2:c.G180T:p.Q60H;CTIF:NM_001142397:exon3:c.G180T:p.Q60H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon2:c.G180T:p.Q60H;ENSG00000134030:ENST00000588345:exon2:c.G180T:p.Q60H;ENSG00000134030:ENST00000256413:exon2:c.G180T:p.Q60H;ENSG00000134030:ENST00000382998:exon3:c.G180T:p.Q60H;ENSG00000134030:ENST00000591412:exon2:c.G180T:p.Q60H;ENSG00000134030:ENST00000587752:exon2:c.G180T:p.Q60H;	0.999854851557223	0.984
18	46146117	G	A	18	48619746	y	y	splicing	CTIF(NM_001142397:exon3:c.180+1G>A;NM_014772:exon2:c.180+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon2:c.180+1G>A;ENST00000382998:exon3:c.180+1G>A;ENST00000591412:exon2:c.180+1G>A;ENST00000591387:exon2:c.180+1G>A;ENST00000587752:exon2:c.180+1G>A;ENST00000588345:exon2:c.180+1G>A)	.	.	0.999988247793601	0.936
18	46146117	G	C	18	48619746	y	y	splicing	CTIF(NM_001142397:exon3:c.180+1G>C;NM_014772:exon2:c.180+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon2:c.180+1G>C;ENST00000382998:exon3:c.180+1G>C;ENST00000591412:exon2:c.180+1G>C;ENST00000591387:exon2:c.180+1G>C;ENST00000587752:exon2:c.180+1G>C;ENST00000588345:exon2:c.180+1G>C)	.	.	0.999988247793601	0.936
18	46146117	G	T	18	48619746	y	y	splicing	CTIF(NM_001142397:exon3:c.180+1G>T;NM_014772:exon2:c.180+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon2:c.180+1G>T;ENST00000382998:exon3:c.180+1G>T;ENST00000591412:exon2:c.180+1G>T;ENST00000591387:exon2:c.180+1G>T;ENST00000587752:exon2:c.180+1G>T;ENST00000588345:exon2:c.180+1G>T)	.	.	0.999988247793601	0.936
18	46146118	T	A	18	48619747	y	y	splicing	CTIF(NM_001142397:exon3:c.180+2T>A;NM_014772:exon2:c.180+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon2:c.180+2T>A;ENST00000382998:exon3:c.180+2T>A;ENST00000591412:exon2:c.180+2T>A;ENST00000591387:exon2:c.180+2T>A;ENST00000587752:exon2:c.180+2T>A;ENST00000588345:exon2:c.180+2T>A)	.	.	0.999988307841649	0.924
18	46146118	T	C	18	48619747	y	y	splicing	CTIF(NM_001142397:exon3:c.180+2T>C;NM_014772:exon2:c.180+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon2:c.180+2T>C;ENST00000382998:exon3:c.180+2T>C;ENST00000591412:exon2:c.180+2T>C;ENST00000591387:exon2:c.180+2T>C;ENST00000587752:exon2:c.180+2T>C;ENST00000588345:exon2:c.180+2T>C)	.	.	0.99997300569989	0.882
18	46146118	T	G	18	48619747	y	y	splicing	CTIF(NM_001142397:exon3:c.180+2T>G;NM_014772:exon2:c.180+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon2:c.180+2T>G;ENST00000382998:exon3:c.180+2T>G;ENST00000591412:exon2:c.180+2T>G;ENST00000591387:exon2:c.180+2T>G;ENST00000587752:exon2:c.180+2T>G;ENST00000588345:exon2:c.180+2T>G)	.	.	0.999988307841649	0.924
18	46146119	G	A	18	48619748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.58027815225265E-4	0.012
18	46146119	G	C	18	48619748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.624198287117863	0.528
18	46146119	G	T	18	48619748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.793191861006394	0.556
18	46146120	A	C	18	48619749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.670350499566152	0.568
18	46146120	A	G	18	48619749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.877460325434	0.518
18	46146120	A	T	18	48619749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.844372781817325	0.618
18	46146121	G	A	18	48619750	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.9954536895714	0.752
18	46146121	G	C	18	48619750	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.950752830625533	0.48
18	46146121	G	T	18	48619750	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.99767735242526	0.792
18	46146122	C	A	18	48619751	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.20170549669002E-4	0.008
18	46146122	C	G	18	48619751	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.30828147350997E-5	0.026
18	46146122	C	T	18	48619751	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.69874958879667E-5	0.0
18	46146123	G	A	18	48619752	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.09105271056891E-5	0.0
18	46146123	G	C	18	48619752	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.06341561599038E-6	0.0
18	46146123	G	T	18	48619752	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.20815411554053E-5	0.002
18	46146124	C	A	18	48619753	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.32254443129584E-4	0.004
18	46146124	C	G	18	48619753	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.69087221574347E-4	0.0
18	46146124	C	T	18	48619753	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.32254443129584E-4	0.004
18	46151548	C	A	18	48625177	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.38801286061798E-4	0.002
18	46151548	C	G	18	48625177	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.16602419096015E-4	0.002
18	46151548	C	T	18	48625177	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.72247645960254E-4	0.004
18	46151549	T	A	18	48625178	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.69844050747639E-4	0.0
18	46151549	T	C	18	48625178	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.45387536832266E-4	0.002
18	46151549	T	G	18	48625178	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.45387536832266E-4	0.002
18	46151550	T	A	18	48625179	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00816988410367287	0.034
18	46151550	T	C	18	48625179	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00683924978123084	0.036
18	46151550	T	G	18	48625179	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00816988410367287	0.036
18	46151551	T	A	18	48625180	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.52039737514614E-4	0.014
18	46151551	T	C	18	48625180	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.30665745355052E-4	0.01
18	46151551	T	G	18	48625180	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.30665745355052E-4	0.01
18	46151552	G	A	18	48625181	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.16080636402324E-4	0.01
18	46151552	G	C	18	48625181	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.19087666414529E-4	0.0
18	46151552	G	T	18	48625181	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.19087666414529E-4	0.0
18	46151553	C	A	18	48625182	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0116968562741939	0.028
18	46151553	C	G	18	48625182	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00757113195616081	0.024
18	46151553	C	T	18	48625182	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0116968562741939	0.034
18	46151554	T	A	18	48625183	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00117481798683584	0.006
18	46151554	T	C	18	48625183	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00117481798683584	0.012
18	46151554	T	G	18	48625183	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00117481798683584	0.008
18	46151555	C	A	18	48625184	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.82254846753964E-4	0.002
18	46151555	C	G	18	48625184	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.32658667526046E-4	0.002
18	46151555	C	T	18	48625184	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.82254846753964E-4	0.002
18	46151556	A	C	18	48625185	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.29992609310711E-5	0.01
18	46151556	A	G	18	48625185	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.29992609310711E-5	0.01
18	46151556	A	T	18	48625185	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.02341339488491E-4	0.002
18	46151557	C	A	18	48625186	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.27298432089634E-4	0.022
18	46151557	C	G	18	48625186	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.27298432089634E-4	0.078
18	46151557	C	T	18	48625186	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.27298432089634E-4	0.032
18	46151558	A	C	18	48625187	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.181-2A>C)	.	.	7.03821323391391E-4	0.01
18	46151558	A	G	18	48625187	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.181-2A>G)	.	.	7.03821323391391E-4	0.008
18	46151558	A	T	18	48625187	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.181-2A>T)	.	.	6.96504354678437E-4	0.008
18	46151559	G	A	18	48625188	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.181-1G>A)	.	.	2.37660782053663E-4	0.004
18	46151559	G	C	18	48625188	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.181-1G>C)	.	.	2.37660782053663E-4	0.062
18	46151559	G	T	18	48625188	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.181-1G>T)	.	.	2.37660782053663E-4	0.004
18	46151560	G	A	18	48625189	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.G181A:p.E61K;	9.72094497280667E-4	0.002
18	46151560	G	C	18	48625189	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.G181C:p.E61Q;	0.00107142490233505	0.004
18	46151560	G	T	18	48625189	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000591412:exon3:c.G181T:p.E61X;	0.00107142490233505	0.006
18	46151561	A	C	18	48625190	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A182C:p.E61A;	9.84580976702971E-4	0.002
18	46151561	A	G	18	48625190	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A182G:p.E61G;	9.84580976702971E-4	0.002
18	46151561	A	T	18	48625190	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A182T:p.E61V;	8.90663428301183E-4	0.002
18	46151605	G	A	18	48625234	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.G226A:p.E76K;	0.0175005487615746	0.16
18	46151605	G	C	18	48625234	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.G226C:p.E76Q;	0.0149383909579513	0.148
18	46151605	G	T	18	48625234	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000591412:exon3:c.G226T:p.E76X;	0.0175005487615746	0.15
18	46151606	A	C	18	48625235	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A227C:p.E76A;	0.413910125034226	0.51
18	46151606	A	G	18	48625235	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A227G:p.E76G;	0.413910125034226	0.508
18	46151606	A	T	18	48625235	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A227T:p.E76V;	0.413910125034226	0.572
18	46151607	A	C	18	48625236	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A228C:p.E76D;	0.413910125034226	0.54
18	46151607	A	G	18	48625236	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A228G:p.E76E;	0.413910125034226	0.532
18	46151607	A	T	18	48625236	n	y	intronic	CTIF	.	.	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591412:exon3:c.A228T:p.E76D;	0.413910125034226	0.552
18	46151608	G	A	18	48625237	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.228+1G>A)	.	.	0.0109093486578759	0.146
18	46151608	G	C	18	48625237	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.228+1G>C)	.	.	0.00713281271682237	0.146
18	46151608	G	T	18	48625237	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.228+1G>T)	.	.	0.00978271061072411	0.138
18	46151609	T	A	18	48625238	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.228+2T>A)	.	.	0.0295897756387982	0.176
18	46151609	T	C	18	48625238	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.228+2T>C)	.	.	0.0295897756387982	0.198
18	46151609	T	G	18	48625238	n	y	intronic	CTIF	.	.	splicing	ENSG00000134030(ENST00000591412:exon3:c.228+2T>G)	.	.	0.0295897756387982	0.202
18	46151610	G	A	18	48625239	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.11487366251867E-4	0.11
18	46151610	G	C	18	48625239	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.89787837593187E-4	0.13
18	46151610	G	T	18	48625239	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.53797915345878E-4	0.112
18	46151611	A	C	18	48625240	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.439516149276195	0.636
18	46151611	A	G	18	48625240	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.439516149276195	0.636
18	46151611	A	T	18	48625240	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.439516149276195	0.63
18	46151612	G	A	18	48625241	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0384953078143208	0.152
18	46151612	G	C	18	48625241	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0217194010583593	0.14
18	46151612	G	T	18	48625241	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0329625468804551	0.148
18	46151613	T	A	18	48625242	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.439516149276195	0.636
18	46151613	T	C	18	48625242	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.439516149276195	0.66
18	46151613	T	G	18	48625242	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.439516149276195	0.66
18	46151614	T	A	18	48625243	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.23651388585943E-5	0.03
18	46151614	T	C	18	48625243	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.50272948772451E-4	0.07
18	46151614	T	G	18	48625243	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.50272948772451E-4	0.062
18	46151615	T	A	18	48625244	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.82195716976178E-5	0.07
18	46151615	T	C	18	48625244	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.82195716976178E-5	0.08
18	46151615	T	G	18	48625244	n	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.82195716976178E-5	0.08
18	46162973	T	A	18	48636602	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.717314804071913	0.558
18	46162973	T	C	18	48636602	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.101690155655541	0.28
18	46162973	T	G	18	48636602	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.908725505705495	0.558
18	46162974	C	A	18	48636603	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00250698956093348	0.114
18	46162974	C	G	18	48636603	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.69143263447966E-4	0.066
18	46162974	C	T	18	48636603	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.24100379175214E-5	0.004
18	46162975	T	A	18	48636604	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999898269800627	0.988
18	46162975	T	C	18	48636604	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.48896703546322E-4	0.024
18	46162975	T	G	18	48636604	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00847103258804245	0.196
18	46162976	G	A	18	48636605	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00755096235137187	0.132
18	46162976	G	C	18	48636605	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.004404252809E-4	0.022
18	46162976	G	T	18	48636605	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.77249661849952E-4	0.072
18	46162977	T	A	18	48636606	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.51544126111444E-4	0.088
18	46162977	T	C	18	48636606	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.71993048417266E-5	0.002
18	46162977	T	G	18	48636606	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00187929000823341	0.088
18	46162978	T	A	18	48636607	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.37071042732416E-4	0.056
18	46162978	T	C	18	48636607	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.59069693254325E-5	0.0
18	46162978	T	G	18	48636607	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.67798238780971E-4	0.054
18	46162979	C	A	18	48636608	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0107423406315465	0.15
18	46162979	C	G	18	48636608	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0133707891341256	0.126
18	46162979	C	T	18	48636608	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.6063626313963E-5	0.012
18	46162980	T	A	18	48636609	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999617047487937	0.926
18	46162980	T	C	18	48636609	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.87857381365084E-4	0.01
18	46162980	T	G	18	48636609	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0363064703735347	0.3
18	46162981	G	A	18	48636610	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00530030904939733	0.036
18	46162981	G	C	18	48636610	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00204831762373594	0.024
18	46162981	G	T	18	48636610	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00611795847148124	0.038
18	46162982	C	A	18	48636611	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.996266865883858	0.902
18	46162982	C	G	18	48636611	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999935466836481	0.972
18	46162982	C	T	18	48636611	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0511439572842496	0.16
18	46162983	A	C	18	48636612	y	y	splicing	CTIF(NM_001142397:exon4:c.181-2A>C;NM_014772:exon3:c.181-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.181-2A>C;ENST00000382998:exon4:c.181-2A>C;ENST00000591412:exon4:c.229-2A>C;ENST00000591387:exon3:c.181-2A>C;ENST00000587752:exon3:c.181-2A>C;ENST00000588345:exon3:c.181-2A>C)	.	.	0.999988247793601	0.928
18	46162983	A	G	18	48636612	y	y	splicing	CTIF(NM_001142397:exon4:c.181-2A>G;NM_014772:exon3:c.181-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.181-2A>G;ENST00000382998:exon4:c.181-2A>G;ENST00000591412:exon4:c.229-2A>G;ENST00000591387:exon3:c.181-2A>G;ENST00000587752:exon3:c.181-2A>G;ENST00000588345:exon3:c.181-2A>G)	.	.	0.999988247793601	0.928
18	46162983	A	T	18	48636612	y	y	splicing	CTIF(NM_001142397:exon4:c.181-2A>T;NM_014772:exon3:c.181-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.181-2A>T;ENST00000382998:exon4:c.181-2A>T;ENST00000591412:exon4:c.229-2A>T;ENST00000591387:exon3:c.181-2A>T;ENST00000587752:exon3:c.181-2A>T;ENST00000588345:exon3:c.181-2A>T)	.	.	0.999988247793601	0.928
18	46162984	G	A	18	48636613	y	y	splicing	CTIF(NM_001142397:exon4:c.181-1G>A;NM_014772:exon3:c.181-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.181-1G>A;ENST00000382998:exon4:c.181-1G>A;ENST00000591412:exon4:c.229-1G>A;ENST00000591387:exon3:c.181-1G>A;ENST00000587752:exon3:c.181-1G>A;ENST00000588345:exon3:c.181-1G>A)	.	.	0.999986675681007	0.932
18	46162984	G	C	18	48636613	y	y	splicing	CTIF(NM_001142397:exon4:c.181-1G>C;NM_014772:exon3:c.181-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.181-1G>C;ENST00000382998:exon4:c.181-1G>C;ENST00000591412:exon4:c.229-1G>C;ENST00000591387:exon3:c.181-1G>C;ENST00000587752:exon3:c.181-1G>C;ENST00000588345:exon3:c.181-1G>C)	.	.	0.999986675681007	0.932
18	46162984	G	T	18	48636613	y	y	splicing	CTIF(NM_001142397:exon4:c.181-1G>T;NM_014772:exon3:c.181-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.181-1G>T;ENST00000382998:exon4:c.181-1G>T;ENST00000591412:exon4:c.229-1G>T;ENST00000591387:exon3:c.181-1G>T;ENST00000587752:exon3:c.181-1G>T;ENST00000588345:exon3:c.181-1G>T)	.	.	0.999986675681007	0.932
18	46162985	T	A	18	48636614	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.T181A:p.W61R;CTIF:NM_001142397:exon4:c.T181A:p.W61R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.T181A:p.W61R;ENSG00000134030:ENST00000588345:exon3:c.T181A:p.W61R;ENSG00000134030:ENST00000256413:exon3:c.T181A:p.W61R;ENSG00000134030:ENST00000382998:exon4:c.T181A:p.W61R;ENSG00000134030:ENST00000591412:exon4:c.T229A:p.W77R;ENSG00000134030:ENST00000587752:exon3:c.T181A:p.W61R;	0.506335943562375	0.654
18	46162985	T	C	18	48636614	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.T181C:p.W61R;CTIF:NM_001142397:exon4:c.T181C:p.W61R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.T181C:p.W61R;ENSG00000134030:ENST00000588345:exon3:c.T181C:p.W61R;ENSG00000134030:ENST00000256413:exon3:c.T181C:p.W61R;ENSG00000134030:ENST00000382998:exon4:c.T181C:p.W61R;ENSG00000134030:ENST00000591412:exon4:c.T229C:p.W77R;ENSG00000134030:ENST00000587752:exon3:c.T181C:p.W61R;	0.751419535523653	0.55
18	46162985	T	G	18	48636614	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.T181G:p.W61G;CTIF:NM_001142397:exon4:c.T181G:p.W61G;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.T181G:p.W61G;ENSG00000134030:ENST00000588345:exon3:c.T181G:p.W61G;ENSG00000134030:ENST00000256413:exon3:c.T181G:p.W61G;ENSG00000134030:ENST00000382998:exon4:c.T181G:p.W61G;ENSG00000134030:ENST00000591412:exon4:c.T229G:p.W77G;ENSG00000134030:ENST00000587752:exon3:c.T181G:p.W61G;	0.598402056499849	0.582
18	46162986	G	A	18	48636615	y	y	exonic	CTIF	stopgain SNV	CTIF:NM_014772:exon3:c.G182A:p.W61X;CTIF:NM_001142397:exon4:c.G182A:p.W61X;	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000591387:exon3:c.G182A:p.W61X;ENSG00000134030:ENST00000588345:exon3:c.G182A:p.W61X;ENSG00000134030:ENST00000256413:exon3:c.G182A:p.W61X;ENSG00000134030:ENST00000382998:exon4:c.G182A:p.W61X;ENSG00000134030:ENST00000591412:exon4:c.G230A:p.W77X;ENSG00000134030:ENST00000587752:exon3:c.G182A:p.W61X;	0.982636422484953	0.86
18	46162986	G	C	18	48636615	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.G182C:p.W61S;CTIF:NM_001142397:exon4:c.G182C:p.W61S;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.G182C:p.W61S;ENSG00000134030:ENST00000588345:exon3:c.G182C:p.W61S;ENSG00000134030:ENST00000256413:exon3:c.G182C:p.W61S;ENSG00000134030:ENST00000382998:exon4:c.G182C:p.W61S;ENSG00000134030:ENST00000591412:exon4:c.G230C:p.W77S;ENSG00000134030:ENST00000587752:exon3:c.G182C:p.W61S;	0.958905340317495	0.838
18	46162986	G	T	18	48636615	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.G182T:p.W61L;CTIF:NM_001142397:exon4:c.G182T:p.W61L;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.G182T:p.W61L;ENSG00000134030:ENST00000588345:exon3:c.G182T:p.W61L;ENSG00000134030:ENST00000256413:exon3:c.G182T:p.W61L;ENSG00000134030:ENST00000382998:exon4:c.G182T:p.W61L;ENSG00000134030:ENST00000591412:exon4:c.G230T:p.W77L;ENSG00000134030:ENST00000587752:exon3:c.G182T:p.W61L;	0.982006793112015	0.888
18	46163054	C	A	18	48636683	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.C250A:p.Q84K;CTIF:NM_001142397:exon4:c.C250A:p.Q84K;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.C250A:p.Q84K;ENSG00000134030:ENST00000588345:exon3:c.C250A:p.Q84K;ENSG00000134030:ENST00000256413:exon3:c.C250A:p.Q84K;ENSG00000134030:ENST00000382998:exon4:c.C250A:p.Q84K;ENSG00000134030:ENST00000591412:exon4:c.C298A:p.Q100K;ENSG00000134030:ENST00000587752:exon3:c.C250A:p.Q84K;	0.923427010676414	0.718
18	46163054	C	G	18	48636683	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.C250G:p.Q84E;CTIF:NM_001142397:exon4:c.C250G:p.Q84E;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.C250G:p.Q84E;ENSG00000134030:ENST00000588345:exon3:c.C250G:p.Q84E;ENSG00000134030:ENST00000256413:exon3:c.C250G:p.Q84E;ENSG00000134030:ENST00000382998:exon4:c.C250G:p.Q84E;ENSG00000134030:ENST00000591412:exon4:c.C298G:p.Q100E;ENSG00000134030:ENST00000587752:exon3:c.C250G:p.Q84E;	0.917961109646504	0.654
18	46163054	C	T	18	48636683	y	y	exonic	CTIF	stopgain SNV	CTIF:NM_014772:exon3:c.C250T:p.Q84X;CTIF:NM_001142397:exon4:c.C250T:p.Q84X;	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000591387:exon3:c.C250T:p.Q84X;ENSG00000134030:ENST00000588345:exon3:c.C250T:p.Q84X;ENSG00000134030:ENST00000256413:exon3:c.C250T:p.Q84X;ENSG00000134030:ENST00000382998:exon4:c.C250T:p.Q84X;ENSG00000134030:ENST00000591412:exon4:c.C298T:p.Q100X;ENSG00000134030:ENST00000587752:exon3:c.C250T:p.Q84X;	0.999583395364781	0.968
18	46163055	A	C	18	48636684	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.A251C:p.Q84P;CTIF:NM_001142397:exon4:c.A251C:p.Q84P;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.A251C:p.Q84P;ENSG00000134030:ENST00000588345:exon3:c.A251C:p.Q84P;ENSG00000134030:ENST00000256413:exon3:c.A251C:p.Q84P;ENSG00000134030:ENST00000382998:exon4:c.A251C:p.Q84P;ENSG00000134030:ENST00000591412:exon4:c.A299C:p.Q100P;ENSG00000134030:ENST00000587752:exon3:c.A251C:p.Q84P;	0.999575273581232	0.98
18	46163055	A	G	18	48636684	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.A251G:p.Q84R;CTIF:NM_001142397:exon4:c.A251G:p.Q84R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.A251G:p.Q84R;ENSG00000134030:ENST00000588345:exon3:c.A251G:p.Q84R;ENSG00000134030:ENST00000256413:exon3:c.A251G:p.Q84R;ENSG00000134030:ENST00000382998:exon4:c.A251G:p.Q84R;ENSG00000134030:ENST00000591412:exon4:c.A299G:p.Q100R;ENSG00000134030:ENST00000587752:exon3:c.A251G:p.Q84R;	0.998424991720283	0.99
18	46163055	A	T	18	48636684	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.A251T:p.Q84L;CTIF:NM_001142397:exon4:c.A251T:p.Q84L;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.A251T:p.Q84L;ENSG00000134030:ENST00000588345:exon3:c.A251T:p.Q84L;ENSG00000134030:ENST00000256413:exon3:c.A251T:p.Q84L;ENSG00000134030:ENST00000382998:exon4:c.A251T:p.Q84L;ENSG00000134030:ENST00000591412:exon4:c.A299T:p.Q100L;ENSG00000134030:ENST00000587752:exon3:c.A251T:p.Q84L;	0.999918785195311	0.992
18	46163056	G	A	18	48636685	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon3:c.G252A:p.Q84Q;CTIF:NM_001142397:exon4:c.G252A:p.Q84Q;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.G252A:p.Q84Q;ENSG00000134030:ENST00000588345:exon3:c.G252A:p.Q84Q;ENSG00000134030:ENST00000256413:exon3:c.G252A:p.Q84Q;ENSG00000134030:ENST00000382998:exon4:c.G252A:p.Q84Q;ENSG00000134030:ENST00000591412:exon4:c.G300A:p.Q100Q;ENSG00000134030:ENST00000587752:exon3:c.G252A:p.Q84Q;	0.999572401898528	1.0
18	46163056	G	C	18	48636685	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.G252C:p.Q84H;CTIF:NM_001142397:exon4:c.G252C:p.Q84H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.G252C:p.Q84H;ENSG00000134030:ENST00000588345:exon3:c.G252C:p.Q84H;ENSG00000134030:ENST00000256413:exon3:c.G252C:p.Q84H;ENSG00000134030:ENST00000382998:exon4:c.G252C:p.Q84H;ENSG00000134030:ENST00000591412:exon4:c.G300C:p.Q100H;ENSG00000134030:ENST00000587752:exon3:c.G252C:p.Q84H;	0.999995051836365	0.984
18	46163056	G	T	18	48636685	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon3:c.G252T:p.Q84H;CTIF:NM_001142397:exon4:c.G252T:p.Q84H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon3:c.G252T:p.Q84H;ENSG00000134030:ENST00000588345:exon3:c.G252T:p.Q84H;ENSG00000134030:ENST00000256413:exon3:c.G252T:p.Q84H;ENSG00000134030:ENST00000382998:exon4:c.G252T:p.Q84H;ENSG00000134030:ENST00000591412:exon4:c.G300T:p.Q100H;ENSG00000134030:ENST00000587752:exon3:c.G252T:p.Q84H;	0.999978758682307	0.996
18	46163057	G	A	18	48636686	y	y	splicing	CTIF(NM_001142397:exon4:c.252+1G>A;NM_014772:exon3:c.252+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.252+1G>A;ENST00000382998:exon4:c.252+1G>A;ENST00000591412:exon4:c.300+1G>A;ENST00000591387:exon3:c.252+1G>A;ENST00000587752:exon3:c.252+1G>A;ENST00000588345:exon3:c.252+1G>A)	.	.	0.999986675681007	0.932
18	46163057	G	C	18	48636686	y	y	splicing	CTIF(NM_001142397:exon4:c.252+1G>C;NM_014772:exon3:c.252+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.252+1G>C;ENST00000382998:exon4:c.252+1G>C;ENST00000591412:exon4:c.300+1G>C;ENST00000591387:exon3:c.252+1G>C;ENST00000587752:exon3:c.252+1G>C;ENST00000588345:exon3:c.252+1G>C)	.	.	0.999986675681007	0.932
18	46163057	G	T	18	48636686	y	y	splicing	CTIF(NM_001142397:exon4:c.252+1G>T;NM_014772:exon3:c.252+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.252+1G>T;ENST00000382998:exon4:c.252+1G>T;ENST00000591412:exon4:c.300+1G>T;ENST00000591387:exon3:c.252+1G>T;ENST00000587752:exon3:c.252+1G>T;ENST00000588345:exon3:c.252+1G>T)	.	.	0.999986675681007	0.932
18	46163058	T	A	18	48636687	y	y	splicing	CTIF(NM_001142397:exon4:c.252+2T>A;NM_014772:exon3:c.252+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.252+2T>A;ENST00000382998:exon4:c.252+2T>A;ENST00000591412:exon4:c.300+2T>A;ENST00000591387:exon3:c.252+2T>A;ENST00000587752:exon3:c.252+2T>A;ENST00000588345:exon3:c.252+2T>A)	.	.	0.999988247793601	0.928
18	46163058	T	C	18	48636687	y	y	splicing	CTIF(NM_001142397:exon4:c.252+2T>C;NM_014772:exon3:c.252+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.252+2T>C;ENST00000382998:exon4:c.252+2T>C;ENST00000591412:exon4:c.300+2T>C;ENST00000591387:exon3:c.252+2T>C;ENST00000587752:exon3:c.252+2T>C;ENST00000588345:exon3:c.252+2T>C)	.	.	0.992054276455321	0.606
18	46163058	T	G	18	48636687	y	y	splicing	CTIF(NM_001142397:exon4:c.252+2T>G;NM_014772:exon3:c.252+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon3:c.252+2T>G;ENST00000382998:exon4:c.252+2T>G;ENST00000591412:exon4:c.300+2T>G;ENST00000591387:exon3:c.252+2T>G;ENST00000587752:exon3:c.252+2T>G;ENST00000588345:exon3:c.252+2T>G)	.	.	0.999988247793601	0.928
18	46163059	A	C	18	48636688	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.997704895134976	0.906
18	46163059	A	G	18	48636688	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.993123473398342	0.94
18	46163059	A	T	18	48636688	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998577066414964	0.984
18	46163060	G	A	18	48636689	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.95436729777425E-4	0.058
18	46163060	G	C	18	48636689	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00135148617930718	0.12
18	46163060	G	T	18	48636689	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.60828530918528E-4	0.056
18	46163061	G	A	18	48636690	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.930913611214191	0.746
18	46163061	G	C	18	48636690	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.973867414578835	0.804
18	46163061	G	T	18	48636690	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999319142780377	0.896
18	46163062	G	A	18	48636691	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.70276612938667E-4	0.006
18	46163062	G	C	18	48636691	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.9219929841283E-4	0.128
18	46163062	G	T	18	48636691	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.51192212775074E-4	0.008
18	46163063	A	C	18	48636692	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.0802893590191E-5	0.002
18	46163063	A	G	18	48636692	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.38554024608503E-5	0.0
18	46163063	A	T	18	48636692	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.38554024608503E-5	0.0
18	46163064	A	C	18	48636693	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.4177594613333E-4	0.002
18	46163064	A	G	18	48636693	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.08595947287115E-4	0.0
18	46163064	A	T	18	48636693	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.24440759780019E-4	0.078
18	46190111	C	A	18	48663740	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.0451800178212E-4	0.002
18	46190111	C	G	18	48663740	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.33979078272135E-4	0.018
18	46190111	C	T	18	48663740	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.72187137688005E-5	0.0
18	46190112	A	C	18	48663741	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.0187595826178E-5	0.0
18	46190112	A	G	18	48663741	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.82977769921795E-6	0.002
18	46190112	A	T	18	48663741	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.99192399337794E-5	0.016
18	46190113	T	A	18	48663742	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00801836298049201	0.128
18	46190113	T	C	18	48663742	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.14762848921438E-5	0.002
18	46190113	T	G	18	48663742	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999907459715912	0.974
18	46190114	C	A	18	48663743	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.0363007589482E-4	0.002
18	46190114	C	G	18	48663743	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.0280260913776E-4	0.032
18	46190114	C	T	18	48663743	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.14109605584063E-5	0.0
18	46190115	T	A	18	48663744	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00302696957055474	0.084
18	46190115	T	C	18	48663744	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.2841733031537E-5	0.0
18	46190115	T	G	18	48663744	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0013607823587277	0.12
18	46190116	C	A	18	48663745	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00647820900286923	0.042
18	46190116	C	G	18	48663745	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00362858191512424	0.04
18	46190116	C	T	18	48663745	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.17815551027387E-5	0.002
18	46190117	T	A	18	48663746	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0187439688368155	0.134
18	46190117	T	C	18	48663746	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.66535743779959E-5	0.0
18	46190117	T	G	18	48663746	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0234230917864228	0.144
18	46190118	T	A	18	48663747	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.784845599248064	0.596
18	46190118	T	C	18	48663747	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0225661270646016	0.174
18	46190118	T	G	18	48663747	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.885721771750758	0.602
18	46190119	C	A	18	48663748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.5298104147834E-4	0.006
18	46190119	C	G	18	48663748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.76130315840118E-4	0.036
18	46190119	C	T	18	48663748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.5298104147834E-4	0.028
18	46190120	C	A	18	48663749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.974798147016278	0.684
18	46190120	C	G	18	48663749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.995630428300208	0.93
18	46190120	C	T	18	48663749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00366162131663079	0.01
18	46190121	A	C	18	48663750	y	y	splicing	CTIF(NM_001142397:exon5:c.253-2A>C;NM_014772:exon4:c.253-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.253-2A>C;ENST00000382998:exon5:c.253-2A>C;ENST00000591412:exon5:c.301-2A>C;ENST00000591387:exon4:c.253-2A>C;ENST00000587752:exon4:c.253-2A>C;ENST00000588345:exon4:c.253-2A>C)	.	.	0.999972482390482	0.926
18	46190121	A	G	18	48663750	y	y	splicing	CTIF(NM_001142397:exon5:c.253-2A>G;NM_014772:exon4:c.253-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.253-2A>G;ENST00000382998:exon5:c.253-2A>G;ENST00000591412:exon5:c.301-2A>G;ENST00000591387:exon4:c.253-2A>G;ENST00000587752:exon4:c.253-2A>G;ENST00000588345:exon4:c.253-2A>G)	.	.	0.999972482390482	0.926
18	46190121	A	T	18	48663750	y	y	splicing	CTIF(NM_001142397:exon5:c.253-2A>T;NM_014772:exon4:c.253-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.253-2A>T;ENST00000382998:exon5:c.253-2A>T;ENST00000591412:exon5:c.301-2A>T;ENST00000591387:exon4:c.253-2A>T;ENST00000587752:exon4:c.253-2A>T;ENST00000588345:exon4:c.253-2A>T)	.	.	0.999989336352314	0.924
18	46190122	G	A	18	48663751	y	y	splicing	CTIF(NM_001142397:exon5:c.253-1G>A;NM_014772:exon4:c.253-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.253-1G>A;ENST00000382998:exon5:c.253-1G>A;ENST00000591412:exon5:c.301-1G>A;ENST00000591387:exon4:c.253-1G>A;ENST00000587752:exon4:c.253-1G>A;ENST00000588345:exon4:c.253-1G>A)	.	.	0.999984815981472	0.924
18	46190122	G	C	18	48663751	y	y	splicing	CTIF(NM_001142397:exon5:c.253-1G>C;NM_014772:exon4:c.253-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.253-1G>C;ENST00000382998:exon5:c.253-1G>C;ENST00000591412:exon5:c.301-1G>C;ENST00000591387:exon4:c.253-1G>C;ENST00000587752:exon4:c.253-1G>C;ENST00000588345:exon4:c.253-1G>C)	.	.	0.999984815981472	0.924
18	46190122	G	T	18	48663751	y	y	splicing	CTIF(NM_001142397:exon5:c.253-1G>T;NM_014772:exon4:c.253-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.253-1G>T;ENST00000382998:exon5:c.253-1G>T;ENST00000591412:exon5:c.301-1G>T;ENST00000591387:exon4:c.253-1G>T;ENST00000587752:exon4:c.253-1G>T;ENST00000588345:exon4:c.253-1G>T)	.	.	0.999984815981472	0.924
18	46190123	A	C	18	48663752	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A253C:p.N85H;CTIF:NM_001142397:exon5:c.A253C:p.N85H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A253C:p.N85H;ENSG00000134030:ENST00000588345:exon4:c.A253C:p.N85H;ENSG00000134030:ENST00000256413:exon4:c.A253C:p.N85H;ENSG00000134030:ENST00000382998:exon5:c.A253C:p.N85H;ENSG00000134030:ENST00000591412:exon5:c.A301C:p.N101H;ENSG00000134030:ENST00000587752:exon4:c.A253C:p.N85H;	0.0151513248898124	0.142
18	46190123	A	G	18	48663752	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A253G:p.N85D;CTIF:NM_001142397:exon5:c.A253G:p.N85D;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A253G:p.N85D;ENSG00000134030:ENST00000588345:exon4:c.A253G:p.N85D;ENSG00000134030:ENST00000256413:exon4:c.A253G:p.N85D;ENSG00000134030:ENST00000382998:exon5:c.A253G:p.N85D;ENSG00000134030:ENST00000591412:exon5:c.A301G:p.N101D;ENSG00000134030:ENST00000587752:exon4:c.A253G:p.N85D;	0.00835939973558149	0.294
18	46190123	A	T	18	48663752	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A253T:p.N85Y;CTIF:NM_001142397:exon5:c.A253T:p.N85Y;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A253T:p.N85Y;ENSG00000134030:ENST00000588345:exon4:c.A253T:p.N85Y;ENSG00000134030:ENST00000256413:exon4:c.A253T:p.N85Y;ENSG00000134030:ENST00000382998:exon5:c.A253T:p.N85Y;ENSG00000134030:ENST00000591412:exon5:c.A301T:p.N101Y;ENSG00000134030:ENST00000587752:exon4:c.A253T:p.N85Y;	0.0153476018116184	0.126
18	46190124	A	C	18	48663753	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A254C:p.N85T;CTIF:NM_001142397:exon5:c.A254C:p.N85T;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A254C:p.N85T;ENSG00000134030:ENST00000588345:exon4:c.A254C:p.N85T;ENSG00000134030:ENST00000256413:exon4:c.A254C:p.N85T;ENSG00000134030:ENST00000382998:exon5:c.A254C:p.N85T;ENSG00000134030:ENST00000591412:exon5:c.A302C:p.N101T;ENSG00000134030:ENST00000587752:exon4:c.A254C:p.N85T;	0.573130783793593	0.642
18	46190124	A	G	18	48663753	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A254G:p.N85S;CTIF:NM_001142397:exon5:c.A254G:p.N85S;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A254G:p.N85S;ENSG00000134030:ENST00000588345:exon4:c.A254G:p.N85S;ENSG00000134030:ENST00000256413:exon4:c.A254G:p.N85S;ENSG00000134030:ENST00000382998:exon5:c.A254G:p.N85S;ENSG00000134030:ENST00000591412:exon5:c.A302G:p.N101S;ENSG00000134030:ENST00000587752:exon4:c.A254G:p.N85S;	0.462494319236033	0.624
18	46190124	A	T	18	48663753	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A254T:p.N85I;CTIF:NM_001142397:exon5:c.A254T:p.N85I;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A254T:p.N85I;ENSG00000134030:ENST00000588345:exon4:c.A254T:p.N85I;ENSG00000134030:ENST00000256413:exon4:c.A254T:p.N85I;ENSG00000134030:ENST00000382998:exon5:c.A254T:p.N85I;ENSG00000134030:ENST00000591412:exon5:c.A302T:p.N101I;ENSG00000134030:ENST00000587752:exon4:c.A254T:p.N85I;	0.353921152211201	0.532
18	46190194	C	A	18	48663823	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.C324A:p.F108L;CTIF:NM_001142397:exon5:c.C324A:p.F108L;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.C324A:p.F108L;ENSG00000134030:ENST00000256413:exon4:c.C324A:p.F108L;ENSG00000134030:ENST00000382998:exon5:c.C324A:p.F108L;ENSG00000134030:ENST00000587752:exon4:c.C324A:p.F108L;	0.00115865177910508	0.088
18	46190194	C	G	18	48663823	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.C324G:p.F108L;CTIF:NM_001142397:exon5:c.C324G:p.F108L;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.C324G:p.F108L;ENSG00000134030:ENST00000256413:exon4:c.C324G:p.F108L;ENSG00000134030:ENST00000382998:exon5:c.C324G:p.F108L;ENSG00000134030:ENST00000587752:exon4:c.C324G:p.F108L;	4.94419531700497E-4	0.042
18	46190194	C	T	18	48663823	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon4:c.C324T:p.F108F;CTIF:NM_001142397:exon5:c.C324T:p.F108F;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.C324T:p.F108F;ENSG00000134030:ENST00000256413:exon4:c.C324T:p.F108F;ENSG00000134030:ENST00000382998:exon5:c.C324T:p.F108F;ENSG00000134030:ENST00000587752:exon4:c.C324T:p.F108F;	0.991678183408329	0.852
18	46190195	A	C	18	48663824	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A325C:p.S109R;CTIF:NM_001142397:exon5:c.A325C:p.S109R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A325C:p.S109R;ENSG00000134030:ENST00000256413:exon4:c.A325C:p.S109R;ENSG00000134030:ENST00000382998:exon5:c.A325C:p.S109R;ENSG00000134030:ENST00000587752:exon4:c.A325C:p.S109R;	0.996591352523227	0.946
18	46190195	A	G	18	48663824	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A325G:p.S109G;CTIF:NM_001142397:exon5:c.A325G:p.S109G;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A325G:p.S109G;ENSG00000134030:ENST00000256413:exon4:c.A325G:p.S109G;ENSG00000134030:ENST00000382998:exon5:c.A325G:p.S109G;ENSG00000134030:ENST00000587752:exon4:c.A325G:p.S109G;	0.996965794468343	0.942
18	46190195	A	T	18	48663824	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.A325T:p.S109C;CTIF:NM_001142397:exon5:c.A325T:p.S109C;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.A325T:p.S109C;ENSG00000134030:ENST00000256413:exon4:c.A325T:p.S109C;ENSG00000134030:ENST00000382998:exon5:c.A325T:p.S109C;ENSG00000134030:ENST00000587752:exon4:c.A325T:p.S109C;	0.999893559084676	0.998
18	46190196	G	A	18	48663825	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.G326A:p.S109N;CTIF:NM_001142397:exon5:c.G326A:p.S109N;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.G326A:p.S109N;ENSG00000134030:ENST00000256413:exon4:c.G326A:p.S109N;ENSG00000134030:ENST00000382998:exon5:c.G326A:p.S109N;ENSG00000134030:ENST00000587752:exon4:c.G326A:p.S109N;	0.999994708946284	1.0
18	46190196	G	C	18	48663825	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.G326C:p.S109T;CTIF:NM_001142397:exon5:c.G326C:p.S109T;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.G326C:p.S109T;ENSG00000134030:ENST00000256413:exon4:c.G326C:p.S109T;ENSG00000134030:ENST00000382998:exon5:c.G326C:p.S109T;ENSG00000134030:ENST00000587752:exon4:c.G326C:p.S109T;	0.999996265005084	0.998
18	46190196	G	T	18	48663825	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon4:c.G326T:p.S109I;CTIF:NM_001142397:exon5:c.G326T:p.S109I;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon4:c.G326T:p.S109I;ENSG00000134030:ENST00000256413:exon4:c.G326T:p.S109I;ENSG00000134030:ENST00000382998:exon5:c.G326T:p.S109I;ENSG00000134030:ENST00000587752:exon4:c.G326T:p.S109I;	0.99994372243197	0.996
18	46190197	G	A	18	48663826	y	y	splicing	CTIF(NM_001142397:exon5:c.326+1G>A;NM_014772:exon4:c.326+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.326+1G>A;ENST00000382998:exon5:c.326+1G>A;ENST00000591387:exon4:c.326+1G>A;ENST00000587752:exon4:c.326+1G>A)	.	.	0.999988568935494	0.932
18	46190197	G	C	18	48663826	y	y	splicing	CTIF(NM_001142397:exon5:c.326+1G>C;NM_014772:exon4:c.326+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.326+1G>C;ENST00000382998:exon5:c.326+1G>C;ENST00000591387:exon4:c.326+1G>C;ENST00000587752:exon4:c.326+1G>C)	.	.	0.999988568935494	0.932
18	46190197	G	T	18	48663826	y	y	splicing	CTIF(NM_001142397:exon5:c.326+1G>T;NM_014772:exon4:c.326+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.326+1G>T;ENST00000382998:exon5:c.326+1G>T;ENST00000591387:exon4:c.326+1G>T;ENST00000587752:exon4:c.326+1G>T)	.	.	0.999988568935494	0.932
18	46190198	T	A	18	48663827	y	y	splicing	CTIF(NM_001142397:exon5:c.326+2T>A;NM_014772:exon4:c.326+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.326+2T>A;ENST00000382998:exon5:c.326+2T>A;ENST00000591387:exon4:c.326+2T>A;ENST00000587752:exon4:c.326+2T>A)	.	.	0.999990155693597	0.928
18	46190198	T	C	18	48663827	y	y	splicing	CTIF(NM_001142397:exon5:c.326+2T>C;NM_014772:exon4:c.326+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.326+2T>C;ENST00000382998:exon5:c.326+2T>C;ENST00000591387:exon4:c.326+2T>C;ENST00000587752:exon4:c.326+2T>C)	.	.	0.986838409566311	0.596
18	46190198	T	G	18	48663827	y	y	splicing	CTIF(NM_001142397:exon5:c.326+2T>G;NM_014772:exon4:c.326+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon4:c.326+2T>G;ENST00000382998:exon5:c.326+2T>G;ENST00000591387:exon4:c.326+2T>G;ENST00000587752:exon4:c.326+2T>G)	.	.	0.999990155693597	0.928
18	46190199	A	C	18	48663828	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999361589431421	0.884
18	46190199	A	G	18	48663828	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.513960342223664	0.642
18	46190199	A	T	18	48663828	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999880572700701	0.862
18	46190200	A	C	18	48663829	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0616032094206747	0.4
18	46190200	A	G	18	48663829	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.324933537214581	0.326
18	46190200	A	T	18	48663829	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.52268416996196	0.35
18	46190201	C	A	18	48663830	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.96269948114186E-5	0.042
18	46190201	C	G	18	48663830	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.19599412697879E-5	0.028
18	46190201	C	T	18	48663830	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00167346313507507	0.096
18	46190202	C	A	18	48663831	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.47050634264092E-4	0.01
18	46190202	C	G	18	48663831	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.13614887910005E-4	0.036
18	46190202	C	T	18	48663831	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.22773391769369E-4	0.012
18	46190203	T	A	18	48663832	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.49515927712277E-5	0.008
18	46190203	T	C	18	48663832	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.65550003727465E-5	0.008
18	46190203	T	G	18	48663832	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.35712282992222E-5	0.006
18	46190204	C	A	18	48663833	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.37042930892933E-4	0.004
18	46190204	C	G	18	48663833	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.51524450216491E-4	0.02
18	46190204	C	T	18	48663833	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.37042930892933E-4	0.008
18	46190806	C	A	18	48664435	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.1593760668737	0.188
18	46190806	C	G	18	48664435	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.101307395792365	0.208
18	46190806	C	T	18	48664435	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0021845598715438	0.014
18	46190807	T	A	18	48664436	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.940594217155385	0.83
18	46190807	T	C	18	48664436	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.15842490369431	0.34
18	46190807	T	G	18	48664436	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.677548888697608	0.74
18	46190808	C	A	18	48664437	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999954547802861	0.982
18	46190808	C	G	18	48664437	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.010109900189236	0.106
18	46190808	C	T	18	48664437	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.93492996991385E-4	0.016
18	46190809	G	A	18	48664438	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00113464260652506	0.076
18	46190809	G	C	18	48664438	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00131653996787792	0.004
18	46190809	G	T	18	48664438	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.48235254613728E-4	0.0
18	46190810	C	A	18	48664439	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0010331339948629	0.164
18	46190810	C	G	18	48664439	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00108771430715734	0.148
18	46190810	C	T	18	48664439	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.18742578404358E-4	0.006
18	46190811	C	A	18	48664440	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0952655877454471	0.22
18	46190811	C	G	18	48664440	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.139134409964505	0.224
18	46190811	C	T	18	48664440	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00226023495501944	0.042
18	46190812	C	A	18	48664441	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00146156964824639	0.228
18	46190812	C	G	18	48664441	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00372012394303292	0.25
18	46190812	C	T	18	48664441	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.29643719132056E-5	0.004
18	46190813	T	A	18	48664442	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0926886825138377	0.496
18	46190813	T	C	18	48664442	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.68530981190334E-4	0.056
18	46190813	T	G	18	48664442	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0459147323461828	0.476
18	46190814	C	A	18	48664443	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00368736656501127	0.142
18	46190814	C	G	18	48664443	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0197400247267998	0.114
18	46190814	C	T	18	48664443	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0057769906497591	0.09
18	46190815	T	A	18	48664444	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.92369083064638	0.702
18	46190815	T	C	18	48664444	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00130519759812184	0.018
18	46190815	T	G	18	48664444	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999669046536979	0.936
18	46190816	A	C	18	48664445	y	y	splicing	CTIF(NM_001142397:exon6:c.327-2A>C;NM_014772:exon5:c.327-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.327-2A>C;ENST00000382998:exon6:c.327-2A>C;ENST00000591387:exon5:c.327-2A>C;ENST00000587752:exon5:c.327-2A>C)	.	.	0.999990155693597	0.942
18	46190816	A	G	18	48664445	y	y	splicing	CTIF(NM_001142397:exon6:c.327-2A>G;NM_014772:exon5:c.327-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.327-2A>G;ENST00000382998:exon6:c.327-2A>G;ENST00000591387:exon5:c.327-2A>G;ENST00000587752:exon5:c.327-2A>G)	.	.	0.999990155693597	0.942
18	46190816	A	T	18	48664445	y	y	splicing	CTIF(NM_001142397:exon6:c.327-2A>T;NM_014772:exon5:c.327-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.327-2A>T;ENST00000382998:exon6:c.327-2A>T;ENST00000591387:exon5:c.327-2A>T;ENST00000587752:exon5:c.327-2A>T)	.	.	0.999990155693597	0.942
18	46190817	G	A	18	48664446	y	y	splicing	CTIF(NM_001142397:exon6:c.327-1G>A;NM_014772:exon5:c.327-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.327-1G>A;ENST00000382998:exon6:c.327-1G>A;ENST00000591387:exon5:c.327-1G>A;ENST00000587752:exon5:c.327-1G>A)	.	.	0.999986675681007	0.952
18	46190817	G	C	18	48664446	y	y	splicing	CTIF(NM_001142397:exon6:c.327-1G>C;NM_014772:exon5:c.327-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.327-1G>C;ENST00000382998:exon6:c.327-1G>C;ENST00000591387:exon5:c.327-1G>C;ENST00000587752:exon5:c.327-1G>C)	.	.	0.999986675681007	0.952
18	46190817	G	T	18	48664446	y	y	splicing	CTIF(NM_001142397:exon6:c.327-1G>T;NM_014772:exon5:c.327-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.327-1G>T;ENST00000382998:exon6:c.327-1G>T;ENST00000591387:exon5:c.327-1G>T;ENST00000587752:exon5:c.327-1G>T)	.	.	0.999986675681007	0.952
18	46190818	T	A	18	48664447	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.T327A:p.S109R;CTIF:NM_001142397:exon6:c.T327A:p.S109R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon5:c.T327A:p.S109R;ENSG00000134030:ENST00000256413:exon5:c.T327A:p.S109R;ENSG00000134030:ENST00000382998:exon6:c.T327A:p.S109R;ENSG00000134030:ENST00000587752:exon5:c.T327A:p.S109R;	2.65684754883984E-5	0.012
18	46190818	T	C	18	48664447	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon5:c.T327C:p.S109S;CTIF:NM_001142397:exon6:c.T327C:p.S109S;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000591387:exon5:c.T327C:p.S109S;ENSG00000134030:ENST00000256413:exon5:c.T327C:p.S109S;ENSG00000134030:ENST00000382998:exon6:c.T327C:p.S109S;ENSG00000134030:ENST00000587752:exon5:c.T327C:p.S109S;	1.8301097582269E-4	0.026
18	46190818	T	G	18	48664447	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.T327G:p.S109R;CTIF:NM_001142397:exon6:c.T327G:p.S109R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon5:c.T327G:p.S109R;ENSG00000134030:ENST00000256413:exon5:c.T327G:p.S109R;ENSG00000134030:ENST00000382998:exon6:c.T327G:p.S109R;ENSG00000134030:ENST00000587752:exon5:c.T327G:p.S109R;	1.13475659508162E-4	0.054
18	46190819	G	A	18	48664448	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G328A:p.G110S;CTIF:NM_001142397:exon6:c.G328A:p.G110S;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon5:c.G328A:p.G110S;ENSG00000134030:ENST00000256413:exon5:c.G328A:p.G110S;ENSG00000134030:ENST00000382998:exon6:c.G328A:p.G110S;ENSG00000134030:ENST00000587752:exon5:c.G328A:p.G110S;	0.848549924697618	0.804
18	46190819	G	C	18	48664448	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G328C:p.G110R;CTIF:NM_001142397:exon6:c.G328C:p.G110R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon5:c.G328C:p.G110R;ENSG00000134030:ENST00000256413:exon5:c.G328C:p.G110R;ENSG00000134030:ENST00000382998:exon6:c.G328C:p.G110R;ENSG00000134030:ENST00000587752:exon5:c.G328C:p.G110R;	0.732516239644056	0.728
18	46190819	G	T	18	48664448	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G328T:p.G110C;CTIF:NM_001142397:exon6:c.G328T:p.G110C;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000591387:exon5:c.G328T:p.G110C;ENSG00000134030:ENST00000256413:exon5:c.G328T:p.G110C;ENSG00000134030:ENST00000382998:exon6:c.G328T:p.G110C;ENSG00000134030:ENST00000587752:exon5:c.G328T:p.G110C;	0.835646094020417	0.668
18	46190920	A	C	18	48664549	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.A429C:p.E143D;CTIF:NM_001142397:exon6:c.A429C:p.E143D;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.A429C:p.E143D;ENSG00000134030:ENST00000382998:exon6:c.A429C:p.E143D;ENSG00000134030:ENST00000587752:exon5:c.A429C:p.E143D;	0.00291995150177328	0.038
18	46190920	A	G	18	48664549	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon5:c.A429G:p.E143E;CTIF:NM_001142397:exon6:c.A429G:p.E143E;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.A429G:p.E143E;ENSG00000134030:ENST00000382998:exon6:c.A429G:p.E143E;ENSG00000134030:ENST00000587752:exon5:c.A429G:p.E143E;	0.0029197825691515	0.1
18	46190920	A	T	18	48664549	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.A429T:p.E143D;CTIF:NM_001142397:exon6:c.A429T:p.E143D;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.A429T:p.E143D;ENSG00000134030:ENST00000382998:exon6:c.A429T:p.E143D;ENSG00000134030:ENST00000587752:exon5:c.A429T:p.E143D;	0.0757640076588104	0.23
18	46190921	G	A	18	48664550	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G430A:p.G144R;CTIF:NM_001142397:exon6:c.G430A:p.G144R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.G430A:p.G144R;ENSG00000134030:ENST00000382998:exon6:c.G430A:p.G144R;ENSG00000134030:ENST00000587752:exon5:c.G430A:p.G144R;	0.00629460183824703	0.044
18	46190921	G	C	18	48664550	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G430C:p.G144R;CTIF:NM_001142397:exon6:c.G430C:p.G144R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.G430C:p.G144R;ENSG00000134030:ENST00000382998:exon6:c.G430C:p.G144R;ENSG00000134030:ENST00000587752:exon5:c.G430C:p.G144R;	0.00980659112061537	0.05
18	46190921	G	T	18	48664550	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G430T:p.G144W;CTIF:NM_001142397:exon6:c.G430T:p.G144W;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.G430T:p.G144W;ENSG00000134030:ENST00000382998:exon6:c.G430T:p.G144W;ENSG00000134030:ENST00000587752:exon5:c.G430T:p.G144W;	0.300508199323344	0.514
18	46190922	G	A	18	48664551	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G431A:p.G144E;CTIF:NM_001142397:exon6:c.G431A:p.G144E;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.G431A:p.G144E;ENSG00000134030:ENST00000382998:exon6:c.G431A:p.G144E;ENSG00000134030:ENST00000587752:exon5:c.G431A:p.G144E;	0.999961204834568	0.996
18	46190922	G	C	18	48664551	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G431C:p.G144A;CTIF:NM_001142397:exon6:c.G431C:p.G144A;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.G431C:p.G144A;ENSG00000134030:ENST00000382998:exon6:c.G431C:p.G144A;ENSG00000134030:ENST00000587752:exon5:c.G431C:p.G144A;	0.999994314137438	0.994
18	46190922	G	T	18	48664551	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon5:c.G431T:p.G144V;CTIF:NM_001142397:exon6:c.G431T:p.G144V;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon5:c.G431T:p.G144V;ENSG00000134030:ENST00000382998:exon6:c.G431T:p.G144V;ENSG00000134030:ENST00000587752:exon5:c.G431T:p.G144V;	0.999968616431472	1.0
18	46190923	G	A	18	48664552	y	y	splicing	CTIF(NM_001142397:exon6:c.431+1G>A;NM_014772:exon5:c.431+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.431+1G>A;ENST00000382998:exon6:c.431+1G>A;ENST00000587752:exon5:c.431+1G>A)	.	.	0.999988568935494	0.932
18	46190923	G	C	18	48664552	y	y	splicing	CTIF(NM_001142397:exon6:c.431+1G>C;NM_014772:exon5:c.431+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.431+1G>C;ENST00000382998:exon6:c.431+1G>C;ENST00000587752:exon5:c.431+1G>C)	.	.	0.999988568935494	0.932
18	46190923	G	T	18	48664552	y	y	splicing	CTIF(NM_001142397:exon6:c.431+1G>T;NM_014772:exon5:c.431+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.431+1G>T;ENST00000382998:exon6:c.431+1G>T;ENST00000587752:exon5:c.431+1G>T)	.	.	0.999988568935494	0.932
18	46190924	T	A	18	48664553	y	y	splicing	CTIF(NM_001142397:exon6:c.431+2T>A;NM_014772:exon5:c.431+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.431+2T>A;ENST00000382998:exon6:c.431+2T>A;ENST00000587752:exon5:c.431+2T>A)	.	.	0.999990155693597	0.928
18	46190924	T	C	18	48664553	y	y	splicing	CTIF(NM_001142397:exon6:c.431+2T>C;NM_014772:exon5:c.431+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.431+2T>C;ENST00000382998:exon6:c.431+2T>C;ENST00000587752:exon5:c.431+2T>C)	.	.	0.999914309363149	0.886
18	46190924	T	G	18	48664553	y	y	splicing	CTIF(NM_001142397:exon6:c.431+2T>G;NM_014772:exon5:c.431+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon5:c.431+2T>G;ENST00000382998:exon6:c.431+2T>G;ENST00000587752:exon5:c.431+2T>G)	.	.	0.999990155693597	0.928
18	46190925	A	C	18	48664554	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999524679940134	0.902
18	46190925	A	G	18	48664554	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.921204690358141	0.536
18	46190925	A	T	18	48664554	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999744461095467	0.894
18	46190926	A	C	18	48664555	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.816854193498531	0.642
18	46190926	A	G	18	48664555	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.99106992882667	0.87
18	46190926	A	T	18	48664555	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.976541907177077	0.796
18	46190927	G	A	18	48664556	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998782118580025	0.978
18	46190927	G	C	18	48664556	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998513307644628	0.9
18	46190927	G	T	18	48664556	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.997858265952579	0.898
18	46190928	G	A	18	48664557	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.55280171981352E-4	0.006
18	46190928	G	C	18	48664557	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.86805612126664E-4	0.046
18	46190928	G	T	18	48664557	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.71294114792757E-5	0.004
18	46190929	G	A	18	48664558	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.13396421541575E-4	0.002
18	46190929	G	C	18	48664558	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.1377241730735E-4	0.018
18	46190929	G	T	18	48664558	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.14841497266134E-4	0.0
18	46190930	G	A	18	48664559	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.17099565235239E-4	0.004
18	46190930	G	C	18	48664559	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.3512072153538E-4	0.012
18	46190930	G	T	18	48664559	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.19838853255653E-4	0.006
18	46197113	C	A	18	48670742	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon6:c.C505A:p.Q169K;CTIF:NM_001142397:exon7:c.C505A:p.Q169K;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon6:c.C505A:p.Q169K;ENSG00000134030:ENST00000382998:exon7:c.C505A:p.Q169K;ENSG00000134030:ENST00000587752:exon6:c.C505A:p.Q169K;	0.766992750873424	0.792
18	46197113	C	G	18	48670742	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon6:c.C505G:p.Q169E;CTIF:NM_001142397:exon7:c.C505G:p.Q169E;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon6:c.C505G:p.Q169E;ENSG00000134030:ENST00000382998:exon7:c.C505G:p.Q169E;ENSG00000134030:ENST00000587752:exon6:c.C505G:p.Q169E;	0.665689425160833	0.546
18	46197113	C	T	18	48670742	y	y	exonic	CTIF	stopgain SNV	CTIF:NM_014772:exon6:c.C505T:p.Q169X;CTIF:NM_001142397:exon7:c.C505T:p.Q169X;	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000256413:exon6:c.C505T:p.Q169X;ENSG00000134030:ENST00000382998:exon7:c.C505T:p.Q169X;ENSG00000134030:ENST00000587752:exon6:c.C505T:p.Q169X;	0.986320657712629	0.88
18	46197114	A	C	18	48670743	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon6:c.A506C:p.Q169P;CTIF:NM_001142397:exon7:c.A506C:p.Q169P;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon6:c.A506C:p.Q169P;ENSG00000134030:ENST00000382998:exon7:c.A506C:p.Q169P;ENSG00000134030:ENST00000587752:exon6:c.A506C:p.Q169P;	0.979719210599813	0.916
18	46197114	A	G	18	48670743	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon6:c.A506G:p.Q169R;CTIF:NM_001142397:exon7:c.A506G:p.Q169R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon6:c.A506G:p.Q169R;ENSG00000134030:ENST00000382998:exon7:c.A506G:p.Q169R;ENSG00000134030:ENST00000587752:exon6:c.A506G:p.Q169R;	0.999400066395563	0.978
18	46197114	A	T	18	48670743	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon6:c.A506T:p.Q169L;CTIF:NM_001142397:exon7:c.A506T:p.Q169L;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon6:c.A506T:p.Q169L;ENSG00000134030:ENST00000382998:exon7:c.A506T:p.Q169L;ENSG00000134030:ENST00000587752:exon6:c.A506T:p.Q169L;	0.999005290560622	0.944
18	46197115	G	A	18	48670744	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon6:c.G507A:p.Q169Q;CTIF:NM_001142397:exon7:c.G507A:p.Q169Q;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon6:c.G507A:p.Q169Q;ENSG00000134030:ENST00000382998:exon7:c.G507A:p.Q169Q;ENSG00000134030:ENST00000587752:exon6:c.G507A:p.Q169Q;	0.999580457586608	0.978
18	46197115	G	C	18	48670744	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon6:c.G507C:p.Q169H;CTIF:NM_001142397:exon7:c.G507C:p.Q169H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon6:c.G507C:p.Q169H;ENSG00000134030:ENST00000382998:exon7:c.G507C:p.Q169H;ENSG00000134030:ENST00000587752:exon6:c.G507C:p.Q169H;	0.999971498210308	0.996
18	46197115	G	T	18	48670744	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon6:c.G507T:p.Q169H;CTIF:NM_001142397:exon7:c.G507T:p.Q169H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon6:c.G507T:p.Q169H;ENSG00000134030:ENST00000382998:exon7:c.G507T:p.Q169H;ENSG00000134030:ENST00000587752:exon6:c.G507T:p.Q169H;	0.999925235757182	0.994
18	46197116	G	A	18	48670745	y	y	splicing	CTIF(NM_001142397:exon7:c.507+1G>A;NM_014772:exon6:c.507+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon6:c.507+1G>A;ENST00000382998:exon7:c.507+1G>A;ENST00000587752:exon6:c.507+1G>A)	.	.	0.999986675681007	0.928
18	46197116	G	C	18	48670745	y	y	splicing	CTIF(NM_001142397:exon7:c.507+1G>C;NM_014772:exon6:c.507+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon6:c.507+1G>C;ENST00000382998:exon7:c.507+1G>C;ENST00000587752:exon6:c.507+1G>C)	.	.	0.999986675681007	0.93
18	46197116	G	T	18	48670745	y	y	splicing	CTIF(NM_001142397:exon7:c.507+1G>T;NM_014772:exon6:c.507+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon6:c.507+1G>T;ENST00000382998:exon7:c.507+1G>T;ENST00000587752:exon6:c.507+1G>T)	.	.	0.999986675681007	0.9
18	46197117	T	A	18	48670746	y	y	splicing	CTIF(NM_001142397:exon7:c.507+2T>A;NM_014772:exon6:c.507+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon6:c.507+2T>A;ENST00000382998:exon7:c.507+2T>A;ENST00000587752:exon6:c.507+2T>A)	.	.	0.999989917668626	0.924
18	46197117	T	C	18	48670746	y	y	splicing	CTIF(NM_001142397:exon7:c.507+2T>C;NM_014772:exon6:c.507+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon6:c.507+2T>C;ENST00000382998:exon7:c.507+2T>C;ENST00000587752:exon6:c.507+2T>C)	.	.	0.986920884651237	0.606
18	46197117	T	G	18	48670746	y	y	splicing	CTIF(NM_001142397:exon7:c.507+2T>G;NM_014772:exon6:c.507+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon6:c.507+2T>G;ENST00000382998:exon7:c.507+2T>G;ENST00000587752:exon6:c.507+2T>G)	.	.	0.999989917668626	0.924
18	46197118	A	C	18	48670747	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.99596908857261	0.888
18	46197118	A	G	18	48670747	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.96858491304292	0.76
18	46197118	A	T	18	48670747	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.997438589646335	0.916
18	46197119	G	A	18	48670748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00194445419318776	0.044
18	46197119	G	C	18	48670748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0221976536810886	0.196
18	46197119	G	T	18	48670748	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00705519591754781	0.078
18	46197120	G	A	18	48670749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.973093832202013	0.666
18	46197120	G	C	18	48670749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.99438479519658	0.832
18	46197120	G	T	18	48670749	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998029272090237	0.882
18	46197121	T	A	18	48670750	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00302660485090906	0.05
18	46197121	T	C	18	48670750	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00281573903453308	0.124
18	46197121	T	G	18	48670750	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.67626009180207E-4	0.056
18	46197122	G	A	18	48670751	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.56273893723707E-5	0.0
18	46197122	G	C	18	48670751	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.56273893723707E-5	0.0
18	46197122	G	T	18	48670751	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.97878667517764E-5	0.0
18	46197123	C	A	18	48670752	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.39639596259112E-4	0.0
18	46197123	C	G	18	48670752	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.56225116512476E-4	0.0
18	46197123	C	T	18	48670752	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.44782879808027E-4	0.0
18	46237978	C	A	18	48711607	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.88590127713089E-4	0.02
18	46237978	C	G	18	48711607	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00116668812532119	0.038
18	46237978	C	T	18	48711607	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.48955650585205E-5	0.0
18	46237979	C	A	18	48711608	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.23775438621858E-4	0.062
18	46237979	C	G	18	48711608	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.65945700778705E-4	0.024
18	46237979	C	T	18	48711608	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.09715696241945E-5	0.0
18	46237980	C	A	18	48711609	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.01437223452216E-4	0.034
18	46237980	C	G	18	48711609	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.16665044650031E-4	0.01
18	46237980	C	T	18	48711609	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.56135128645562E-5	0.008
18	46237981	A	C	18	48711610	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.67944982512943E-5	0.008
18	46237981	A	G	18	48711610	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.19921624993831E-5	0.004
18	46237981	A	T	18	48711610	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.81216475309008E-5	0.0
18	46237982	T	A	18	48711611	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998752830364435	0.912
18	46237982	T	C	18	48711611	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.29144896415975E-5	0.004
18	46237982	T	G	18	48711611	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998702229406538	0.914
18	46237983	G	A	18	48711612	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.75718029792435E-5	0.0
18	46237983	G	C	18	48711612	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.60283418007628E-5	0.002
18	46237983	G	T	18	48711612	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.47408483585621E-5	0.02
18	46237984	A	C	18	48711613	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.9432100866721E-5	0.02
18	46237984	A	G	18	48711613	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.82304284458848E-5	0.004
18	46237984	A	T	18	48711613	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.66411967234149E-5	0.022
18	46237985	C	A	18	48711614	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.81697963939161E-4	0.156
18	46237985	C	G	18	48711614	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999922994860876	0.99
18	46237985	C	T	18	48711614	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.55709554435823E-5	0.03
18	46237986	A	C	18	48711615	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.25707147810509E-4	0.028
18	46237986	A	G	18	48711615	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.23228724487865E-4	0.014
18	46237986	A	T	18	48711615	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.861671330333E-4	0.02
18	46237987	C	A	18	48711616	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.997635482808697	0.908
18	46237987	C	G	18	48711616	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999972374951538	0.832
18	46237987	C	T	18	48711616	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0606596749480901	0.466
18	46237988	A	C	18	48711617	y	y	splicing	CTIF(NM_001142397:exon8:c.508-2A>C;NM_014772:exon7:c.508-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.508-2A>C;ENST00000382998:exon8:c.508-2A>C;ENST00000587752:exon7:c.508-2A>C)	.	.	0.999988624979899	0.932
18	46237988	A	G	18	48711617	y	y	splicing	CTIF(NM_001142397:exon8:c.508-2A>G;NM_014772:exon7:c.508-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.508-2A>G;ENST00000382998:exon8:c.508-2A>G;ENST00000587752:exon7:c.508-2A>G)	.	.	0.999988624979899	0.932
18	46237988	A	T	18	48711617	y	y	splicing	CTIF(NM_001142397:exon8:c.508-2A>T;NM_014772:exon7:c.508-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.508-2A>T;ENST00000382998:exon8:c.508-2A>T;ENST00000587752:exon7:c.508-2A>T)	.	.	0.999988624979899	0.892
18	46237989	G	A	18	48711618	y	y	splicing	CTIF(NM_001142397:exon8:c.508-1G>A;NM_014772:exon7:c.508-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.508-1G>A;ENST00000382998:exon8:c.508-1G>A;ENST00000587752:exon7:c.508-1G>A)	.	.	0.999984967332678	0.946
18	46237989	G	C	18	48711618	y	y	splicing	CTIF(NM_001142397:exon8:c.508-1G>C;NM_014772:exon7:c.508-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.508-1G>C;ENST00000382998:exon8:c.508-1G>C;ENST00000587752:exon7:c.508-1G>C)	.	.	0.999984967332678	0.946
18	46237989	G	T	18	48711618	y	y	splicing	CTIF(NM_001142397:exon8:c.508-1G>T;NM_014772:exon7:c.508-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.508-1G>T;ENST00000382998:exon8:c.508-1G>T;ENST00000587752:exon7:c.508-1G>T)	.	.	0.999984967332678	0.946
18	46237990	G	A	18	48711619	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G508A:p.G170S;CTIF:NM_001142397:exon8:c.G508A:p.G170S;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G508A:p.G170S;ENSG00000134030:ENST00000382998:exon8:c.G508A:p.G170S;ENSG00000134030:ENST00000587752:exon7:c.G508A:p.G170S;	0.999665137404463	0.966
18	46237990	G	C	18	48711619	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G508C:p.G170R;CTIF:NM_001142397:exon8:c.G508C:p.G170R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G508C:p.G170R;ENSG00000134030:ENST00000382998:exon8:c.G508C:p.G170R;ENSG00000134030:ENST00000587752:exon7:c.G508C:p.G170R;	0.999783107235597	0.942
18	46237990	G	T	18	48711619	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G508T:p.G170C;CTIF:NM_001142397:exon8:c.G508T:p.G170C;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G508T:p.G170C;ENSG00000134030:ENST00000382998:exon8:c.G508T:p.G170C;ENSG00000134030:ENST00000587752:exon7:c.G508T:p.G170C;	0.999893535485576	0.984
18	46237991	G	A	18	48711620	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G509A:p.G170D;CTIF:NM_001142397:exon8:c.G509A:p.G170D;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G509A:p.G170D;ENSG00000134030:ENST00000382998:exon8:c.G509A:p.G170D;ENSG00000134030:ENST00000587752:exon7:c.G509A:p.G170D;	0.972591501264806	0.77
18	46237991	G	C	18	48711620	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G509C:p.G170A;CTIF:NM_001142397:exon8:c.G509C:p.G170A;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G509C:p.G170A;ENSG00000134030:ENST00000382998:exon8:c.G509C:p.G170A;ENSG00000134030:ENST00000587752:exon7:c.G509C:p.G170A;	0.984972364751104	0.682
18	46237991	G	T	18	48711620	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G509T:p.G170V;CTIF:NM_001142397:exon8:c.G509T:p.G170V;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G509T:p.G170V;ENSG00000134030:ENST00000382998:exon8:c.G509T:p.G170V;ENSG00000134030:ENST00000587752:exon7:c.G509T:p.G170V;	0.432159698752875	0.53
18	46238064	A	C	18	48711693	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon7:c.A582C:p.R194R;CTIF:NM_001142397:exon8:c.A582C:p.R194R;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.A582C:p.R194R;ENSG00000134030:ENST00000382998:exon8:c.A582C:p.R194R;ENSG00000134030:ENST00000587752:exon7:c.A582C:p.R194R;	2.53652826307825E-5	0.0
18	46238064	A	G	18	48711693	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon7:c.A582G:p.R194R;CTIF:NM_001142397:exon8:c.A582G:p.R194R;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.A582G:p.R194R;ENSG00000134030:ENST00000382998:exon8:c.A582G:p.R194R;ENSG00000134030:ENST00000587752:exon7:c.A582G:p.R194R;	2.80876232079332E-4	0.006
18	46238064	A	T	18	48711693	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon7:c.A582T:p.R194R;CTIF:NM_001142397:exon8:c.A582T:p.R194R;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.A582T:p.R194R;ENSG00000134030:ENST00000382998:exon8:c.A582T:p.R194R;ENSG00000134030:ENST00000587752:exon7:c.A582T:p.R194R;	0.00793211499309413	0.322
18	46238065	A	C	18	48711694	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon7:c.A583C:p.R195R;CTIF:NM_001142397:exon8:c.A583C:p.R195R;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.A583C:p.R195R;ENSG00000134030:ENST00000382998:exon8:c.A583C:p.R195R;ENSG00000134030:ENST00000587752:exon7:c.A583C:p.R195R;	0.99719646119917	0.962
18	46238065	A	G	18	48711694	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.A583G:p.R195G;CTIF:NM_001142397:exon8:c.A583G:p.R195G;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.A583G:p.R195G;ENSG00000134030:ENST00000382998:exon8:c.A583G:p.R195G;ENSG00000134030:ENST00000587752:exon7:c.A583G:p.R195G;	0.999883052651346	0.992
18	46238065	A	T	18	48711694	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.A583T:p.R195W;CTIF:NM_001142397:exon8:c.A583T:p.R195W;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.A583T:p.R195W;ENSG00000134030:ENST00000382998:exon8:c.A583T:p.R195W;ENSG00000134030:ENST00000587752:exon7:c.A583T:p.R195W;	0.999772304971292	0.992
18	46238066	G	A	18	48711695	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G584A:p.R195K;CTIF:NM_001142397:exon8:c.G584A:p.R195K;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G584A:p.R195K;ENSG00000134030:ENST00000382998:exon8:c.G584A:p.R195K;ENSG00000134030:ENST00000587752:exon7:c.G584A:p.R195K;	0.999989112771222	0.998
18	46238066	G	C	18	48711695	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G584C:p.R195T;CTIF:NM_001142397:exon8:c.G584C:p.R195T;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G584C:p.R195T;ENSG00000134030:ENST00000382998:exon8:c.G584C:p.R195T;ENSG00000134030:ENST00000587752:exon7:c.G584C:p.R195T;	0.999994489789114	0.998
18	46238066	G	T	18	48711695	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon7:c.G584T:p.R195M;CTIF:NM_001142397:exon8:c.G584T:p.R195M;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon7:c.G584T:p.R195M;ENSG00000134030:ENST00000382998:exon8:c.G584T:p.R195M;ENSG00000134030:ENST00000587752:exon7:c.G584T:p.R195M;	0.99998851376936	0.994
18	46238067	G	A	18	48711696	y	y	splicing	CTIF(NM_001142397:exon8:c.584+1G>A;NM_014772:exon7:c.584+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.584+1G>A;ENST00000382998:exon8:c.584+1G>A;ENST00000587752:exon7:c.584+1G>A)	.	.	0.999986675681007	0.934
18	46238067	G	C	18	48711696	y	y	splicing	CTIF(NM_001142397:exon8:c.584+1G>C;NM_014772:exon7:c.584+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.584+1G>C;ENST00000382998:exon8:c.584+1G>C;ENST00000587752:exon7:c.584+1G>C)	.	.	0.999986675681007	0.934
18	46238067	G	T	18	48711696	y	y	splicing	CTIF(NM_001142397:exon8:c.584+1G>T;NM_014772:exon7:c.584+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.584+1G>T;ENST00000382998:exon8:c.584+1G>T;ENST00000587752:exon7:c.584+1G>T)	.	.	0.999986675681007	0.934
18	46238068	T	A	18	48711697	y	y	splicing	CTIF(NM_001142397:exon8:c.584+2T>A;NM_014772:exon7:c.584+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.584+2T>A;ENST00000382998:exon8:c.584+2T>A;ENST00000587752:exon7:c.584+2T>A)	.	.	0.999989917668626	0.928
18	46238068	T	C	18	48711697	y	y	splicing	CTIF(NM_001142397:exon8:c.584+2T>C;NM_014772:exon7:c.584+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.584+2T>C;ENST00000382998:exon8:c.584+2T>C;ENST00000587752:exon7:c.584+2T>C)	.	.	0.991781671885672	0.6
18	46238068	T	G	18	48711697	y	y	splicing	CTIF(NM_001142397:exon8:c.584+2T>G;NM_014772:exon7:c.584+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon7:c.584+2T>G;ENST00000382998:exon8:c.584+2T>G;ENST00000587752:exon7:c.584+2T>G)	.	.	0.999989917668626	0.928
18	46238069	A	C	18	48711698	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.997391821111913	0.958
18	46238069	A	G	18	48711698	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.987989263652806	0.91
18	46238069	A	T	18	48711698	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.99764934827201	0.956
18	46238070	G	A	18	48711699	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.5034683712828E-4	0.052
18	46238070	G	C	18	48711699	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00294304016582982	0.184
18	46238070	G	T	18	48711699	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00165995580434254	0.064
18	46238071	G	A	18	48711700	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.987548088191585	0.65
18	46238071	G	C	18	48711700	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.989547300685398	0.822
18	46238071	G	T	18	48711700	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999784113828477	0.882
18	46238072	A	C	18	48711701	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.93023003298482E-4	0.054
18	46238072	A	G	18	48711701	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.32566432379285E-4	0.014
18	46238072	A	T	18	48711701	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.32479442410763E-4	0.024
18	46238073	G	A	18	48711702	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.09226973209243E-4	0.006
18	46238073	G	C	18	48711702	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.17409485137494E-4	0.008
18	46238073	G	T	18	48711702	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.17409485137494E-4	0.004
18	46238074	A	C	18	48711703	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.32372608849038E-4	0.004
18	46238074	A	G	18	48711703	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.91042603500598E-4	0.004
18	46238074	A	T	18	48711703	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.09559047133596E-4	0.004
18	46284278	T	A	18	48757907	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.40168119636438E-4	0.124
18	46284278	T	C	18	48757907	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.31010080278108E-4	0.002
18	46284278	T	G	18	48757907	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.33238855489976E-4	0.09
18	46284279	T	A	18	48757908	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00163384364148715	0.148
18	46284279	T	C	18	48757908	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.75296281787068E-4	0.04
18	46284279	T	G	18	48757908	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.03321905630954E-4	0.112
18	46284280	C	A	18	48757909	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00104251069784389	0.074
18	46284280	C	G	18	48757909	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.03579089808207E-4	0.044
18	46284280	C	T	18	48757909	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.05059111188853E-5	0.0
18	46284281	C	A	18	48757910	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.402864602019402	0.418
18	46284281	C	G	18	48757910	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.43735309426833E-5	0.278
18	46284281	C	T	18	48757910	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.37268938077511E-5	0.018
18	46284282	G	A	18	48757911	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.23220397248815E-4	0.0
18	46284282	G	C	18	48757911	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.50496904771954E-5	0.002
18	46284282	G	T	18	48757911	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.10012906824797E-5	0.0
18	46284283	T	A	18	48757912	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00110139058820903	0.116
18	46284283	T	C	18	48757912	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.72918264458759E-5	0.0
18	46284283	T	G	18	48757912	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.35291719044609E-4	0.084
18	46284284	T	A	18	48757913	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00109570193869136	0.1
18	46284284	T	C	18	48757913	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.24148522679749E-5	0.002
18	46284284	T	G	18	48757913	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.17719616346866E-4	0.142
18	46284285	T	A	18	48757914	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.993224494909937	0.77
18	46284285	T	C	18	48757914	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.15618879084644E-5	0.008
18	46284285	T	G	18	48757914	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0105637321577505	0.246
18	46284286	G	A	18	48757915	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.30051845688419E-5	0.0
18	46284286	G	C	18	48757915	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.37976976334903E-6	0.014
18	46284286	G	T	18	48757915	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.07097082037452E-5	0.0
18	46284287	C	A	18	48757916	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.378289139810188	0.456
18	46284287	C	G	18	48757916	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998930659612106	0.97
18	46284287	C	T	18	48757916	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00165341149580804	0.122
18	46284288	A	C	18	48757917	y	y	splicing	CTIF(NM_001142397:exon9:c.585-2A>C;NM_014772:exon8:c.585-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon8:c.585-2A>C;ENST00000382998:exon9:c.585-2A>C;ENST00000587752:exon8:c.585-2A>C)	.	.	0.999971317418422	0.894
18	46284288	A	G	18	48757917	y	y	splicing	CTIF(NM_001142397:exon9:c.585-2A>G;NM_014772:exon8:c.585-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon8:c.585-2A>G;ENST00000382998:exon9:c.585-2A>G;ENST00000587752:exon8:c.585-2A>G)	.	.	0.999971317418422	0.894
18	46284288	A	T	18	48757917	y	y	splicing	CTIF(NM_001142397:exon9:c.585-2A>T;NM_014772:exon8:c.585-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon8:c.585-2A>T;ENST00000382998:exon9:c.585-2A>T;ENST00000587752:exon8:c.585-2A>T)	.	.	0.999963671976247	0.932
18	46284289	G	A	18	48757918	y	y	splicing	CTIF(NM_001142397:exon9:c.585-1G>A;NM_014772:exon8:c.585-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon8:c.585-1G>A;ENST00000382998:exon9:c.585-1G>A;ENST00000587752:exon8:c.585-1G>A)	.	.	0.999960200702261	0.936
18	46284289	G	C	18	48757918	y	y	splicing	CTIF(NM_001142397:exon9:c.585-1G>C;NM_014772:exon8:c.585-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon8:c.585-1G>C;ENST00000382998:exon9:c.585-1G>C;ENST00000587752:exon8:c.585-1G>C)	.	.	0.999958812450268	0.926
18	46284289	G	T	18	48757918	y	y	splicing	CTIF(NM_001142397:exon9:c.585-1G>T;NM_014772:exon8:c.585-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon8:c.585-1G>T;ENST00000382998:exon9:c.585-1G>T;ENST00000587752:exon8:c.585-1G>T)	.	.	0.999960200702261	0.934
18	46284290	G	A	18	48757919	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon8:c.G585A:p.R195R;CTIF:NM_001142397:exon9:c.G585A:p.R195R;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon8:c.G585A:p.R195R;ENSG00000134030:ENST00000382998:exon9:c.G585A:p.R195R;	2.31402801355553E-4	0.106
18	46284290	G	C	18	48757919	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon8:c.G585C:p.R195S;CTIF:NM_001142397:exon9:c.G585C:p.R195S;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon8:c.G585C:p.R195S;ENSG00000134030:ENST00000382998:exon9:c.G585C:p.R195S;	0.065038857819244	0.316
18	46284290	G	T	18	48757919	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon8:c.G585T:p.R195S;CTIF:NM_001142397:exon9:c.G585T:p.R195S;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon8:c.G585T:p.R195S;ENSG00000134030:ENST00000382998:exon9:c.G585T:p.R195S;	0.794347424902608	0.512
18	46284291	C	A	18	48757920	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon8:c.C586A:p.R196R;CTIF:NM_001142397:exon9:c.C586A:p.R196R;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon8:c.C586A:p.R196R;ENSG00000134030:ENST00000382998:exon9:c.C586A:p.R196R;	0.00190108290214704	0.036
18	46284291	C	G	18	48757920	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon8:c.C586G:p.R196G;CTIF:NM_001142397:exon9:c.C586G:p.R196G;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon8:c.C586G:p.R196G;ENSG00000134030:ENST00000382998:exon9:c.C586G:p.R196G;	0.00220460699621035	0.064
18	46284291	C	T	18	48757920	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon8:c.C586T:p.R196W;CTIF:NM_001142397:exon9:c.C586T:p.R196W;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon8:c.C586T:p.R196W;ENSG00000134030:ENST00000382998:exon9:c.C586T:p.R196W;	0.349232469350467	0.408
18	46284780	C	A	18	48758409	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_001142397:exon9:c.C1075A:p.P359T;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.C1075A:p.P359T;	0.0371846665002484	0.282
18	46284780	C	G	18	48758409	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_001142397:exon9:c.C1075G:p.P359A;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.C1075G:p.P359A;	0.0359385780739588	0.172
18	46284780	C	T	18	48758409	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_001142397:exon9:c.C1075T:p.P359S;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.C1075T:p.P359S;	0.566994964588831	0.494
18	46284781	C	A	18	48758410	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_001142397:exon9:c.C1076A:p.P359Q;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.C1076A:p.P359Q;	0.00123853169617898	0.188
18	46284781	C	G	18	48758410	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_001142397:exon9:c.C1076G:p.P359R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.C1076G:p.P359R;	0.00333662126595943	0.12
18	46284781	C	T	18	48758410	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_001142397:exon9:c.C1076T:p.P359L;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.C1076T:p.P359L;	0.0251713829300921	0.092
18	46284782	G	A	18	48758411	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_001142397:exon9:c.G1077A:p.P359P;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.G1077A:p.P359P;	0.999984284033759	1.0
18	46284782	G	C	18	48758411	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_001142397:exon9:c.G1077C:p.P359P;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.G1077C:p.P359P;	0.99999156031067	1.0
18	46284782	G	T	18	48758411	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_001142397:exon9:c.G1077T:p.P359P;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000382998:exon9:c.G1077T:p.P359P;	0.999972295817813	0.988
18	46284783	G	A	18	48758412	y	y	splicing	CTIF(NM_001142397:exon9:c.1077+1G>A)	.	.	splicing	ENSG00000134030(ENST00000382998:exon9:c.1077+1G>A)	.	.	0.999986675681007	0.932
18	46284783	G	C	18	48758412	y	y	splicing	CTIF(NM_001142397:exon9:c.1077+1G>C)	.	.	splicing	ENSG00000134030(ENST00000382998:exon9:c.1077+1G>C)	.	.	0.999986675681007	0.932
18	46284783	G	T	18	48758412	y	y	splicing	CTIF(NM_001142397:exon9:c.1077+1G>T)	.	.	splicing	ENSG00000134030(ENST00000382998:exon9:c.1077+1G>T)	.	.	0.999986675681007	0.932
18	46284784	T	A	18	48758413	y	y	splicing	CTIF(NM_001142397:exon9:c.1077+2T>A)	.	.	splicing	ENSG00000134030(ENST00000382998:exon9:c.1077+2T>A)	.	.	0.999978952611685	0.924
18	46284784	T	C	18	48758413	y	y	splicing	CTIF(NM_001142397:exon9:c.1077+2T>C)	.	.	splicing	ENSG00000134030(ENST00000382998:exon9:c.1077+2T>C)	.	.	0.994635980776358	0.628
18	46284784	T	G	18	48758413	y	y	splicing	CTIF(NM_001142397:exon9:c.1077+2T>G)	.	.	splicing	ENSG00000134030(ENST00000382998:exon9:c.1077+2T>G)	.	.	0.999978952611685	0.924
18	46284785	A	C	18	48758414	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998853641002006	0.818
18	46284785	A	G	18	48758414	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.751124866160557	0.712
18	46284785	A	T	18	48758414	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999571564957639	0.812
18	46284786	A	C	18	48758415	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.880485673305713	0.632
18	46284786	A	G	18	48758415	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.971503009231329	0.862
18	46284786	A	T	18	48758415	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.946625324346551	0.736
18	46284787	T	A	18	48758416	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0021558158931784	0.028
18	46284787	T	C	18	48758416	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.59811613714821E-4	0.008
18	46284787	T	G	18	48758416	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00146825842283429	0.132
18	46284788	T	A	18	48758417	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0694983949023491	0.166
18	46284788	T	C	18	48758417	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.620241976921853	0.59
18	46284788	T	G	18	48758417	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00235899389395588	0.162
18	46284789	G	A	18	48758418	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.57863408333541E-4	0.0
18	46284789	G	C	18	48758418	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.09420630670006E-4	0.0
18	46284789	G	T	18	48758418	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.98706167666064E-4	0.016
18	46284790	A	C	18	48758419	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.42526114426597E-5	0.0
18	46284790	A	G	18	48758419	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.04618762593637E-4	0.1
18	46284790	A	T	18	48758419	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.02963402907986E-5	0.0
18	46287749	C	A	18	48761378	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.997579901021082	0.964
18	46287749	C	G	18	48761378	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00125099478819505	0.068
18	46287749	C	T	18	48761378	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.1209596210458E-5	0.0
18	46287750	G	A	18	48761379	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.15917113232134E-4	0.024
18	46287750	G	C	18	48761379	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.97769277305195E-5	0.002
18	46287750	G	T	18	48761379	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.13397520870883E-5	0.002
18	46287751	A	C	18	48761380	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.00906123367758E-5	0.006
18	46287751	A	G	18	48761380	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.04145765323093E-4	0.0
18	46287751	A	T	18	48761380	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.84844860951009E-4	0.042
18	46287752	C	A	18	48761381	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00255210452380642	0.104
18	46287752	C	G	18	48761381	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999905215735403	0.896
18	46287752	C	T	18	48761381	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.76675478159088E-5	0.06
18	46287753	A	C	18	48761382	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.629457107067E-5	0.008
18	46287753	A	G	18	48761382	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.74198092286633E-5	0.008
18	46287753	A	T	18	48761382	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.08349722018144E-5	0.018
18	46287754	C	A	18	48761383	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00338509911244379	0.208
18	46287754	C	G	18	48761383	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999964537180642	0.982
18	46287754	C	T	18	48761383	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.40183372027385E-4	0.018
18	46287755	C	A	18	48761384	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.326579820908223	0.508
18	46287755	C	G	18	48761384	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.326579820908223	0.488
18	46287755	C	T	18	48761384	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.75469176760265E-4	0.056
18	46287756	C	A	18	48761385	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00221573919191549	0.084
18	46287756	C	G	18	48761385	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00614068934658308	0.1
18	46287756	C	T	18	48761385	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.39826143826514E-4	0.05
18	46287757	C	A	18	48761386	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.73446319244532E-4	0.038
18	46287757	C	G	18	48761386	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.51389773836498E-4	0.016
18	46287757	C	T	18	48761386	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.11527647110606E-4	0.074
18	46287758	C	A	18	48761387	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.988113967686919	0.848
18	46287758	C	G	18	48761387	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999867356627485	0.916
18	46287758	C	T	18	48761387	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00732832313398664	0.21
18	46287759	A	C	18	48761388	y	y	splicing	CTIF(NM_001142397:exon10:c.1078-2A>C;NM_014772:exon9:c.1072-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1072-2A>C;ENST00000382998:exon10:c.1078-2A>C)	.	.	0.999986741007567	0.946
18	46287759	A	G	18	48761388	y	y	splicing	CTIF(NM_001142397:exon10:c.1078-2A>G;NM_014772:exon9:c.1072-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1072-2A>G;ENST00000382998:exon10:c.1078-2A>G)	.	.	0.999986741007567	0.946
18	46287759	A	T	18	48761388	y	y	splicing	CTIF(NM_001142397:exon10:c.1078-2A>T;NM_014772:exon9:c.1072-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1072-2A>T;ENST00000382998:exon10:c.1078-2A>T)	.	.	0.999986741007567	0.946
18	46287760	G	A	18	48761389	y	y	splicing	CTIF(NM_001142397:exon10:c.1078-1G>A;NM_014772:exon9:c.1072-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1072-1G>A;ENST00000382998:exon10:c.1078-1G>A)	.	.	0.999989125585301	0.944
18	46287760	G	C	18	48761389	y	y	splicing	CTIF(NM_001142397:exon10:c.1078-1G>C;NM_014772:exon9:c.1072-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1072-1G>C;ENST00000382998:exon10:c.1078-1G>C)	.	.	0.999989125585301	0.944
18	46287760	G	T	18	48761389	y	y	splicing	CTIF(NM_001142397:exon10:c.1078-1G>T;NM_014772:exon9:c.1072-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1072-1G>T;ENST00000382998:exon10:c.1078-1G>T)	.	.	0.999989125585301	0.944
18	46287761	G	A	18	48761390	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.G1072A:p.D358N;CTIF:NM_001142397:exon10:c.G1078A:p.D360N;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.G1072A:p.D358N;ENSG00000134030:ENST00000382998:exon10:c.G1078A:p.D360N;	0.999916670766042	0.96
18	46287761	G	C	18	48761390	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.G1072C:p.D358H;CTIF:NM_001142397:exon10:c.G1078C:p.D360H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.G1072C:p.D358H;ENSG00000134030:ENST00000382998:exon10:c.G1078C:p.D360H;	0.999924405992293	0.972
18	46287761	G	T	18	48761390	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.G1072T:p.D358Y;CTIF:NM_001142397:exon10:c.G1078T:p.D360Y;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.G1072T:p.D358Y;ENSG00000134030:ENST00000382998:exon10:c.G1078T:p.D360Y;	0.999952363870519	0.998
18	46287762	A	C	18	48761391	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.A1073C:p.D358A;CTIF:NM_001142397:exon10:c.A1079C:p.D360A;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.A1073C:p.D358A;ENSG00000134030:ENST00000382998:exon10:c.A1079C:p.D360A;	0.615329742549053	0.544
18	46287762	A	G	18	48761391	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.A1073G:p.D358G;CTIF:NM_001142397:exon10:c.A1079G:p.D360G;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.A1073G:p.D358G;ENSG00000134030:ENST00000382998:exon10:c.A1079G:p.D360G;	0.909400040920332	0.7
18	46287762	A	T	18	48761391	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.A1073T:p.D358V;CTIF:NM_001142397:exon10:c.A1079T:p.D360V;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.A1073T:p.D358V;ENSG00000134030:ENST00000382998:exon10:c.A1079T:p.D360V;	0.884643409063586	0.712
18	46288058	C	A	18	48761687	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.C1369A:p.Q457K;CTIF:NM_001142397:exon10:c.C1375A:p.Q459K;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.C1369A:p.Q457K;ENSG00000134030:ENST00000382998:exon10:c.C1375A:p.Q459K;	0.918316970881428	0.81
18	46288058	C	G	18	48761687	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.C1369G:p.Q457E;CTIF:NM_001142397:exon10:c.C1375G:p.Q459E;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.C1369G:p.Q457E;ENSG00000134030:ENST00000382998:exon10:c.C1375G:p.Q459E;	0.914328080990594	0.62
18	46288058	C	T	18	48761687	y	y	exonic	CTIF	stopgain SNV	CTIF:NM_014772:exon9:c.C1369T:p.Q457X;CTIF:NM_001142397:exon10:c.C1375T:p.Q459X;	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000256413:exon9:c.C1369T:p.Q457X;ENSG00000134030:ENST00000382998:exon10:c.C1375T:p.Q459X;	0.998593421636646	0.912
18	46288059	A	C	18	48761688	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.A1370C:p.Q457P;CTIF:NM_001142397:exon10:c.A1376C:p.Q459P;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.A1370C:p.Q457P;ENSG00000134030:ENST00000382998:exon10:c.A1376C:p.Q459P;	0.998851582571074	0.926
18	46288059	A	G	18	48761688	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.A1370G:p.Q457R;CTIF:NM_001142397:exon10:c.A1376G:p.Q459R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.A1370G:p.Q457R;ENSG00000134030:ENST00000382998:exon10:c.A1376G:p.Q459R;	0.999702871623457	0.948
18	46288059	A	T	18	48761688	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.A1370T:p.Q457L;CTIF:NM_001142397:exon10:c.A1376T:p.Q459L;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.A1370T:p.Q457L;ENSG00000134030:ENST00000382998:exon10:c.A1376T:p.Q459L;	0.999750536711936	0.958
18	46288060	G	A	18	48761689	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon9:c.G1371A:p.Q457Q;CTIF:NM_001142397:exon10:c.G1377A:p.Q459Q;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.G1371A:p.Q457Q;ENSG00000134030:ENST00000382998:exon10:c.G1377A:p.Q459Q;	0.999788245088717	0.984
18	46288060	G	C	18	48761689	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.G1371C:p.Q457H;CTIF:NM_001142397:exon10:c.G1377C:p.Q459H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.G1371C:p.Q457H;ENSG00000134030:ENST00000382998:exon10:c.G1377C:p.Q459H;	0.999987228242582	0.988
18	46288060	G	T	18	48761689	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon9:c.G1371T:p.Q457H;CTIF:NM_001142397:exon10:c.G1377T:p.Q459H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon9:c.G1371T:p.Q457H;ENSG00000134030:ENST00000382998:exon10:c.G1377T:p.Q459H;	0.999884050905773	0.97
18	46288061	G	A	18	48761690	y	y	splicing	CTIF(NM_001142397:exon10:c.1377+1G>A;NM_014772:exon9:c.1371+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1371+1G>A;ENST00000382998:exon10:c.1377+1G>A)	.	.	0.999985532734767	0.938
18	46288061	G	C	18	48761690	y	y	splicing	CTIF(NM_001142397:exon10:c.1377+1G>C;NM_014772:exon9:c.1371+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1371+1G>C;ENST00000382998:exon10:c.1377+1G>C)	.	.	0.999985532734767	0.936
18	46288061	G	T	18	48761690	y	y	splicing	CTIF(NM_001142397:exon10:c.1377+1G>T;NM_014772:exon9:c.1371+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1371+1G>T;ENST00000382998:exon10:c.1377+1G>T)	.	.	0.999985532734767	0.938
18	46288062	T	A	18	48761691	y	y	splicing	CTIF(NM_001142397:exon10:c.1377+2T>A;NM_014772:exon9:c.1371+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1371+2T>A;ENST00000382998:exon10:c.1377+2T>A)	.	.	0.999988247793601	0.926
18	46288062	T	C	18	48761691	y	y	splicing	CTIF(NM_001142397:exon10:c.1377+2T>C;NM_014772:exon9:c.1371+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1371+2T>C;ENST00000382998:exon10:c.1377+2T>C)	.	.	0.988163425542712	0.634
18	46288062	T	G	18	48761691	y	y	splicing	CTIF(NM_001142397:exon10:c.1377+2T>G;NM_014772:exon9:c.1371+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon9:c.1371+2T>G;ENST00000382998:exon10:c.1377+2T>G)	.	.	0.999988247793601	0.926
18	46288063	A	C	18	48761692	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.987768723406869	0.728
18	46288063	A	G	18	48761692	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0513675439506734	0.43
18	46288063	A	T	18	48761692	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.998428132943008	0.822
18	46288064	A	C	18	48761693	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.54924334634997	0.406
18	46288064	A	G	18	48761693	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.374232766075332	0.434
18	46288064	A	T	18	48761693	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0933081788687829	0.306
18	46288065	C	A	18	48761694	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.82256407715407E-5	0.01
18	46288065	C	G	18	48761694	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.37994258981383E-4	0.078
18	46288065	C	T	18	48761694	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.98432552814036E-5	0.0
18	46288066	T	A	18	48761695	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.56864628717094E-5	0.07
18	46288066	T	C	18	48761695	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.31107838892861E-5	0.078
18	46288066	T	G	18	48761695	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.82726235135502E-5	0.066
18	46288067	G	A	18	48761696	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.47039458636734E-4	0.0
18	46288067	G	C	18	48761696	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.47039458636734E-4	0.0
18	46288067	G	T	18	48761696	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.6003422446665E-4	0.046
18	46288068	G	A	18	48761697	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00553077394794921	0.052
18	46288068	G	C	18	48761697	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0032982021857362	0.044
18	46288068	G	T	18	48761697	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0042459272058119	0.046
18	46343580	A	C	18	48817209	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.70722291036005E-4	0.008
18	46343580	A	G	18	48817209	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.66622682066287E-4	0.01
18	46343580	A	T	18	48817209	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.58900395385043E-4	0.014
18	46343581	T	A	18	48817210	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999970068147913	0.988
18	46343581	T	C	18	48817210	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.931272692787473	0.596
18	46343581	T	G	18	48817210	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999970068147913	0.976
18	46343582	G	A	18	48817211	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.108704836008645	0.154
18	46343582	G	C	18	48817211	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0071734439021267	0.03
18	46343582	G	T	18	48817211	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00176707948371436	0.01
18	46343583	C	A	18	48817212	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00230021771290922	0.124
18	46343583	C	G	18	48817212	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0137444245820298	0.23
18	46343583	C	T	18	48817212	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.47325618204031E-5	0.024
18	46343584	C	A	18	48817213	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0167869870889001	0.178
18	46343584	C	G	18	48817213	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.012229855403818	0.118
18	46343584	C	T	18	48817213	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.86582039631572E-4	0.016
18	46343585	T	A	18	48817214	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.902119552934112	0.672
18	46343585	T	C	18	48817214	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.46914497467356E-5	0.006
18	46343585	T	G	18	48817214	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.934745775585822	0.656
18	46343586	C	A	18	48817215	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00428206092889701	0.372
18	46343586	C	G	18	48817215	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00909304147054906	0.358
18	46343586	C	T	18	48817215	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.81204471005797E-5	0.032
18	46343587	C	A	18	48817216	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00364191784238592	0.088
18	46343587	C	G	18	48817216	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0466682015745343	0.122
18	46343587	C	T	18	48817216	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.72433921615648E-4	0.042
18	46343588	A	C	18	48817217	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.67126862260921E-4	0.214
18	46343588	A	G	18	48817217	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.55285457099583E-5	0.006
18	46343588	A	T	18	48817217	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.50762718413943E-4	0.046
18	46343589	C	A	18	48817218	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999485300572542	0.97
18	46343589	C	G	18	48817218	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999958359068186	0.962
18	46343589	C	T	18	48817218	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.982884132636426	0.386
18	46343590	A	C	18	48817219	y	y	splicing	CTIF(NM_001142397:exon11:c.1378-2A>C;NM_014772:exon10:c.1372-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1372-2A>C;ENST00000382998:exon11:c.1378-2A>C)	.	.	0.999989917668626	0.92
18	46343590	A	G	18	48817219	y	y	splicing	CTIF(NM_001142397:exon11:c.1378-2A>G;NM_014772:exon10:c.1372-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1372-2A>G;ENST00000382998:exon11:c.1378-2A>G)	.	.	0.999989917668626	0.92
18	46343590	A	T	18	48817219	y	y	splicing	CTIF(NM_001142397:exon11:c.1378-2A>T;NM_014772:exon10:c.1372-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1372-2A>T;ENST00000382998:exon11:c.1378-2A>T)	.	.	0.999989917668626	0.92
18	46343591	G	A	18	48817220	y	y	splicing	CTIF(NM_001142397:exon11:c.1378-1G>A;NM_014772:exon10:c.1372-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1372-1G>A;ENST00000382998:exon11:c.1378-1G>A)	.	.	0.999986675681007	0.928
18	46343591	G	C	18	48817220	y	y	splicing	CTIF(NM_001142397:exon11:c.1378-1G>C;NM_014772:exon10:c.1372-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1372-1G>C;ENST00000382998:exon11:c.1378-1G>C)	.	.	0.999986675681007	0.928
18	46343591	G	T	18	48817220	y	y	splicing	CTIF(NM_001142397:exon11:c.1378-1G>T;NM_014772:exon10:c.1372-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1372-1G>T;ENST00000382998:exon11:c.1378-1G>T)	.	.	0.999986675681007	0.928
18	46343592	A	C	18	48817221	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.A1372C:p.K458Q;CTIF:NM_001142397:exon11:c.A1378C:p.K460Q;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.A1372C:p.K458Q;ENSG00000134030:ENST00000382998:exon11:c.A1378C:p.K460Q;	0.418330348785052	0.518
18	46343592	A	G	18	48817221	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.A1372G:p.K458E;CTIF:NM_001142397:exon11:c.A1378G:p.K460E;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.A1372G:p.K458E;ENSG00000134030:ENST00000382998:exon11:c.A1378G:p.K460E;	0.407437449265477	0.534
18	46343592	A	T	18	48817221	y	y	exonic	CTIF	stopgain SNV	CTIF:NM_014772:exon10:c.A1372T:p.K458X;CTIF:NM_001142397:exon11:c.A1378T:p.K460X;	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000256413:exon10:c.A1372T:p.K458X;ENSG00000134030:ENST00000382998:exon11:c.A1378T:p.K460X;	0.581954993087161	0.56
18	46343593	A	C	18	48817222	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.A1373C:p.K458T;CTIF:NM_001142397:exon11:c.A1379C:p.K460T;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.A1373C:p.K458T;ENSG00000134030:ENST00000382998:exon11:c.A1379C:p.K460T;	0.784081152079536	0.764
18	46343593	A	G	18	48817222	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.A1373G:p.K458R;CTIF:NM_001142397:exon11:c.A1379G:p.K460R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.A1373G:p.K458R;ENSG00000134030:ENST00000382998:exon11:c.A1379G:p.K460R;	0.552640596642367	0.61
18	46343593	A	T	18	48817222	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.A1373T:p.K458M;CTIF:NM_001142397:exon11:c.A1379T:p.K460M;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.A1373T:p.K458M;ENSG00000134030:ENST00000382998:exon11:c.A1379T:p.K460M;	0.628907766837295	0.67
18	46343745	G	A	18	48817374	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.G1525A:p.E509K;CTIF:NM_001142397:exon11:c.G1531A:p.E511K;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.G1525A:p.E509K;ENSG00000134030:ENST00000382998:exon11:c.G1531A:p.E511K;	0.805529369095164	0.8
18	46343745	G	C	18	48817374	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.G1525C:p.E509Q;CTIF:NM_001142397:exon11:c.G1531C:p.E511Q;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.G1525C:p.E509Q;ENSG00000134030:ENST00000382998:exon11:c.G1531C:p.E511Q;	0.77561368012501	0.622
18	46343745	G	T	18	48817374	y	y	exonic	CTIF	stopgain SNV	CTIF:NM_014772:exon10:c.G1525T:p.E509X;CTIF:NM_001142397:exon11:c.G1531T:p.E511X;	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000256413:exon10:c.G1525T:p.E509X;ENSG00000134030:ENST00000382998:exon11:c.G1531T:p.E511X;	0.911955205254846	0.848
18	46343746	A	C	18	48817375	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.A1526C:p.E509A;CTIF:NM_001142397:exon11:c.A1532C:p.E511A;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.A1526C:p.E509A;ENSG00000134030:ENST00000382998:exon11:c.A1532C:p.E511A;	0.985074744877943	0.898
18	46343746	A	G	18	48817375	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.A1526G:p.E509G;CTIF:NM_001142397:exon11:c.A1532G:p.E511G;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.A1526G:p.E509G;ENSG00000134030:ENST00000382998:exon11:c.A1532G:p.E511G;	0.999383274529744	0.98
18	46343746	A	T	18	48817375	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.A1526T:p.E509V;CTIF:NM_001142397:exon11:c.A1532T:p.E511V;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.A1526T:p.E509V;ENSG00000134030:ENST00000382998:exon11:c.A1532T:p.E511V;	0.999312521114807	0.946
18	46343747	G	A	18	48817376	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon10:c.G1527A:p.E509E;CTIF:NM_001142397:exon11:c.G1533A:p.E511E;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.G1527A:p.E509E;ENSG00000134030:ENST00000382998:exon11:c.G1533A:p.E511E;	0.998995626526163	0.968
18	46343747	G	C	18	48817376	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.G1527C:p.E509D;CTIF:NM_001142397:exon11:c.G1533C:p.E511D;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.G1527C:p.E509D;ENSG00000134030:ENST00000382998:exon11:c.G1533C:p.E511D;	0.999945862063399	0.992
18	46343747	G	T	18	48817376	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon10:c.G1527T:p.E509D;CTIF:NM_001142397:exon11:c.G1533T:p.E511D;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon10:c.G1527T:p.E509D;ENSG00000134030:ENST00000382998:exon11:c.G1533T:p.E511D;	0.999927542485233	0.986
18	46343748	G	A	18	48817377	y	y	splicing	CTIF(NM_001142397:exon11:c.1533+1G>A;NM_014772:exon10:c.1527+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1527+1G>A;ENST00000382998:exon11:c.1533+1G>A)	.	.	0.999986675681007	0.934
18	46343748	G	C	18	48817377	y	y	splicing	CTIF(NM_001142397:exon11:c.1533+1G>C;NM_014772:exon10:c.1527+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1527+1G>C;ENST00000382998:exon11:c.1533+1G>C)	.	.	0.999986675681007	0.934
18	46343748	G	T	18	48817377	y	y	splicing	CTIF(NM_001142397:exon11:c.1533+1G>T;NM_014772:exon10:c.1527+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1527+1G>T;ENST00000382998:exon11:c.1533+1G>T)	.	.	0.999986675681007	0.934
18	46343749	T	A	18	48817378	y	y	splicing	CTIF(NM_001142397:exon11:c.1533+2T>A;NM_014772:exon10:c.1527+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1527+2T>A;ENST00000382998:exon11:c.1533+2T>A)	.	.	0.999990155693597	0.928
18	46343749	T	C	18	48817378	y	y	splicing	CTIF(NM_001142397:exon11:c.1533+2T>C;NM_014772:exon10:c.1527+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1527+2T>C;ENST00000382998:exon11:c.1533+2T>C)	.	.	0.991154604827462	0.61
18	46343749	T	G	18	48817378	y	y	splicing	CTIF(NM_001142397:exon11:c.1533+2T>G;NM_014772:exon10:c.1527+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon10:c.1527+2T>G;ENST00000382998:exon11:c.1533+2T>G)	.	.	0.999990155693597	0.928
18	46343750	A	C	18	48817379	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.997300968924794	0.764
18	46343750	A	G	18	48817379	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.837926745071948	0.424
18	46343750	A	T	18	48817379	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.995120426023201	0.668
18	46343751	A	C	18	48817380	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.882049124100564	0.57
18	46343751	A	G	18	48817380	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.92042706848639	0.53
18	46343751	A	T	18	48817380	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.875415887108278	0.582
18	46343752	G	A	18	48817381	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.76294158901783	0.638
18	46343752	G	C	18	48817381	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.794188162518882	0.498
18	46343752	G	T	18	48817381	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.573612133416937	0.566
18	46343753	A	C	18	48817382	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.88108694237562E-5	0.012
18	46343753	A	G	18	48817382	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.33472971275948E-5	0.0
18	46343753	A	T	18	48817382	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.5056383824666E-5	0.0
18	46343754	G	A	18	48817383	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.82413368466299E-4	0.0
18	46343754	G	C	18	48817383	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.98954466791695E-4	0.0
18	46343754	G	T	18	48817383	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.70468354515916E-4	0.0
18	46343755	A	C	18	48817384	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.78958691012223E-5	0.0
18	46343755	A	G	18	48817384	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.52204790408492E-5	0.0
18	46343755	A	T	18	48817384	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.95145951409719E-5	0.0
18	46383947	T	A	18	48857576	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00780593240330662	0.182
18	46383947	T	C	18	48857576	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00129196844649312	0.022
18	46383947	T	G	18	48857576	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0122274211488319	0.182
18	46383948	C	A	18	48857577	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0167452060725445	0.078
18	46383948	C	G	18	48857577	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00178439317393261	0.026
18	46383948	C	T	18	48857577	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.94599675801478E-4	0.0
18	46383949	T	A	18	48857578	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.004481030904465	0.136
18	46383949	T	C	18	48857578	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.95661431265805E-4	0.094
18	46383949	T	G	18	48857578	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00856233271360439	0.164
18	46383950	C	A	18	48857579	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00165196506409834	0.156
18	46383950	C	G	18	48857579	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00322853212064831	0.068
18	46383950	C	T	18	48857579	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.63342276423719E-5	0.012
18	46383951	T	A	18	48857580	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.83393400498156E-4	0.146
18	46383951	T	C	18	48857580	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.70951558903135E-5	0.0
18	46383951	T	G	18	48857580	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.76596884898951E-4	0.148
18	46383952	T	A	18	48857581	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00165611853399923	0.122
18	46383952	T	C	18	48857581	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.48231992993896E-5	0.0
18	46383952	T	G	18	48857581	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.8117998114184E-4	0.104
18	46383953	C	A	18	48857582	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00223619178579642	0.106
18	46383953	C	G	18	48857582	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00152671211698056	0.114
18	46383953	C	T	18	48857582	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.16239598929091E-4	0.004
18	46383954	C	A	18	48857583	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.67510567691072E-4	0.016
18	46383954	C	G	18	48857583	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.60944479064189E-4	0.08
18	46383954	C	T	18	48857583	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.59299244381415E-5	0.0
18	46383955	A	C	18	48857584	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.75492555848218E-5	0.0
18	46383955	A	G	18	48857584	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.82723973609565E-5	0.002
18	46383955	A	T	18	48857584	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.72937360421177E-5	0.024
18	46383956	C	A	18	48857585	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.9770219695828	0.768
18	46383956	C	G	18	48857585	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999909204028263	0.964
18	46383956	C	T	18	48857585	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0981304998102127	0.216
18	46383957	A	C	18	48857586	y	y	splicing	CTIF(NM_001142397:exon12:c.1534-2A>C;NM_014772:exon11:c.1528-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1528-2A>C;ENST00000382998:exon12:c.1534-2A>C)	.	.	0.999988247793601	0.928
18	46383957	A	G	18	48857586	y	y	splicing	CTIF(NM_001142397:exon12:c.1534-2A>G;NM_014772:exon11:c.1528-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1528-2A>G;ENST00000382998:exon12:c.1534-2A>G)	.	.	0.999988247793601	0.928
18	46383957	A	T	18	48857586	y	y	splicing	CTIF(NM_001142397:exon12:c.1534-2A>T;NM_014772:exon11:c.1528-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1528-2A>T;ENST00000382998:exon12:c.1534-2A>T)	.	.	0.999988247793601	0.928
18	46383958	G	A	18	48857587	y	y	splicing	CTIF(NM_001142397:exon12:c.1534-1G>A;NM_014772:exon11:c.1528-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1528-1G>A;ENST00000382998:exon12:c.1534-1G>A)	.	.	0.999986675681007	0.934
18	46383958	G	C	18	48857587	y	y	splicing	CTIF(NM_001142397:exon12:c.1534-1G>C;NM_014772:exon11:c.1528-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1528-1G>C;ENST00000382998:exon12:c.1534-1G>C)	.	.	0.999986675681007	0.934
18	46383958	G	T	18	48857587	y	y	splicing	CTIF(NM_001142397:exon12:c.1534-1G>T;NM_014772:exon11:c.1528-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1528-1G>T;ENST00000382998:exon12:c.1534-1G>T)	.	.	0.999986675681007	0.934
18	46383959	C	A	18	48857588	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.C1528A:p.L510I;CTIF:NM_001142397:exon12:c.C1534A:p.L512I;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.C1528A:p.L510I;ENSG00000134030:ENST00000382998:exon12:c.C1534A:p.L512I;	0.930954425081583	0.8
18	46383959	C	G	18	48857588	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.C1528G:p.L510V;CTIF:NM_001142397:exon12:c.C1534G:p.L512V;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.C1528G:p.L510V;ENSG00000134030:ENST00000382998:exon12:c.C1534G:p.L512V;	0.933603550921573	0.652
18	46383959	C	T	18	48857588	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.C1528T:p.L510F;CTIF:NM_001142397:exon12:c.C1534T:p.L512F;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.C1528T:p.L510F;ENSG00000134030:ENST00000382998:exon12:c.C1534T:p.L512F;	0.994793889525511	0.926
18	46383960	T	A	18	48857589	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.T1529A:p.L510H;CTIF:NM_001142397:exon12:c.T1535A:p.L512H;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.T1529A:p.L510H;ENSG00000134030:ENST00000382998:exon12:c.T1535A:p.L512H;	0.212219313785042	0.472
18	46383960	T	C	18	48857589	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.T1529C:p.L510P;CTIF:NM_001142397:exon12:c.T1535C:p.L512P;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.T1529C:p.L510P;ENSG00000134030:ENST00000382998:exon12:c.T1535C:p.L512P;	0.182554658682712	0.494
18	46383960	T	G	18	48857589	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.T1529G:p.L510R;CTIF:NM_001142397:exon12:c.T1535G:p.L512R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.T1529G:p.L510R;ENSG00000134030:ENST00000382998:exon12:c.T1535G:p.L512R;	0.223681214904569	0.494
18	46384010	G	A	18	48857639	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.G1579A:p.E527K;CTIF:NM_001142397:exon12:c.G1585A:p.E529K;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.G1579A:p.E527K;ENSG00000134030:ENST00000382998:exon12:c.G1585A:p.E529K;	0.941424225866136	0.818
18	46384010	G	C	18	48857639	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.G1579C:p.E527Q;CTIF:NM_001142397:exon12:c.G1585C:p.E529Q;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.G1579C:p.E527Q;ENSG00000134030:ENST00000382998:exon12:c.G1585C:p.E529Q;	0.919229999635787	0.774
18	46384010	G	T	18	48857639	y	y	exonic	CTIF	stopgain SNV	CTIF:NM_014772:exon11:c.G1579T:p.E527X;CTIF:NM_001142397:exon12:c.G1585T:p.E529X;	exonic	ENSG00000134030	stopgain SNV	ENSG00000134030:ENST00000256413:exon11:c.G1579T:p.E527X;ENSG00000134030:ENST00000382998:exon12:c.G1585T:p.E529X;	0.985055336360131	0.854
18	46384011	A	C	18	48857640	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.A1580C:p.E527A;CTIF:NM_001142397:exon12:c.A1586C:p.E529A;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.A1580C:p.E527A;ENSG00000134030:ENST00000382998:exon12:c.A1586C:p.E529A;	0.987854348042917	0.844
18	46384011	A	G	18	48857640	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.A1580G:p.E527G;CTIF:NM_001142397:exon12:c.A1586G:p.E529G;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.A1580G:p.E527G;ENSG00000134030:ENST00000382998:exon12:c.A1586G:p.E529G;	0.996953229774106	0.948
18	46384011	A	T	18	48857640	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.A1580T:p.E527V;CTIF:NM_001142397:exon12:c.A1586T:p.E529V;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.A1580T:p.E527V;ENSG00000134030:ENST00000382998:exon12:c.A1586T:p.E529V;	0.996060443430079	0.892
18	46384012	G	A	18	48857641	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon11:c.G1581A:p.E527E;CTIF:NM_001142397:exon12:c.G1587A:p.E529E;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.G1581A:p.E527E;ENSG00000134030:ENST00000382998:exon12:c.G1587A:p.E529E;	0.994977481491055	0.832
18	46384012	G	C	18	48857641	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.G1581C:p.E527D;CTIF:NM_001142397:exon12:c.G1587C:p.E529D;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.G1581C:p.E527D;ENSG00000134030:ENST00000382998:exon12:c.G1587C:p.E529D;	0.999965106426669	0.986
18	46384012	G	T	18	48857641	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon11:c.G1581T:p.E527D;CTIF:NM_001142397:exon12:c.G1587T:p.E529D;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon11:c.G1581T:p.E527D;ENSG00000134030:ENST00000382998:exon12:c.G1587T:p.E529D;	0.999924018597815	0.992
18	46384013	G	A	18	48857642	y	y	splicing	CTIF(NM_001142397:exon12:c.1587+1G>A;NM_014772:exon11:c.1581+1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1581+1G>A;ENST00000382998:exon12:c.1587+1G>A)	.	.	0.999986675681007	0.928
18	46384013	G	C	18	48857642	y	y	splicing	CTIF(NM_001142397:exon12:c.1587+1G>C;NM_014772:exon11:c.1581+1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1581+1G>C;ENST00000382998:exon12:c.1587+1G>C)	.	.	0.999986675681007	0.928
18	46384013	G	T	18	48857642	y	y	splicing	CTIF(NM_001142397:exon12:c.1587+1G>T;NM_014772:exon11:c.1581+1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1581+1G>T;ENST00000382998:exon12:c.1587+1G>T)	.	.	0.999986675681007	0.928
18	46384014	T	A	18	48857643	y	y	splicing	CTIF(NM_001142397:exon12:c.1587+2T>A;NM_014772:exon11:c.1581+2T>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1581+2T>A;ENST00000382998:exon12:c.1587+2T>A)	.	.	0.999988247793601	0.928
18	46384014	T	C	18	48857643	y	y	splicing	CTIF(NM_001142397:exon12:c.1587+2T>C;NM_014772:exon11:c.1581+2T>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1581+2T>C;ENST00000382998:exon12:c.1587+2T>C)	.	.	0.99295178357233	0.638
18	46384014	T	G	18	48857643	y	y	splicing	CTIF(NM_001142397:exon12:c.1587+2T>G;NM_014772:exon11:c.1581+2T>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon11:c.1581+2T>G;ENST00000382998:exon12:c.1587+2T>G)	.	.	0.999988247793601	0.928
18	46384015	A	C	18	48857644	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.974452444392066	0.756
18	46384015	A	G	18	48857644	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0143753527046391	0.17
18	46384015	A	T	18	48857644	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.990709242020287	0.736
18	46384016	A	C	18	48857645	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.209268456868055	0.294
18	46384016	A	G	18	48857645	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.391489726788979	0.374
18	46384016	A	T	18	48857645	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.349016162786514	0.368
18	46384017	G	A	18	48857646	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.996525245898271	0.69
18	46384017	G	C	18	48857646	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.852877778842189	0.602
18	46384017	G	T	18	48857646	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.983836678296964	0.738
18	46384018	C	A	18	48857647	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.5212000748912E-4	0.018
18	46384018	C	G	18	48857647	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.63356828237805E-4	0.038
18	46384018	C	T	18	48857647	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	6.50156234889817E-5	0.006
18	46384019	T	A	18	48857648	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.09579474250486E-6	0.0
18	46384019	T	C	18	48857648	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.09579474250486E-6	0.0
18	46384019	T	G	18	48857648	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.09579474250486E-6	0.0
18	46384020	T	A	18	48857649	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.30477579161392E-5	0.008
18	46384020	T	C	18	48857649	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.30477579161392E-5	0.0
18	46384020	T	G	18	48857649	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	3.30477579161392E-5	0.0
18	46385703	C	A	18	48859332	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00708930621200676	0.094
18	46385703	C	G	18	48859332	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00197474036452144	0.098
18	46385703	C	T	18	48859332	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.645728752069E-4	0.0
18	46385704	T	A	18	48859333	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.984079828132829	0.73
18	46385704	T	C	18	48859333	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.121882392172015	0.306
18	46385704	T	G	18	48859333	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.97625430815363	0.778
18	46385705	C	A	18	48859334	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	7.37170213825202E-4	0.156
18	46385705	C	G	18	48859334	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00115382583243221	0.098
18	46385705	C	T	18	48859334	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.9506474541912E-5	0.002
18	46385706	T	A	18	48859335	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999930770574718	0.966
18	46385706	T	C	18	48859335	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00832054057448949	0.158
18	46385706	T	G	18	48859335	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.178929571356017	0.464
18	46385707	G	A	18	48859336	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	9.64979753788617E-5	0.002
18	46385707	G	C	18	48859336	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.32531865700989E-5	0.002
18	46385707	G	T	18	48859336	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.62970628430676E-6	0.0
18	46385708	T	A	18	48859337	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.109570021516223	0.198
18	46385708	T	C	18	48859337	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.12259270916726E-4	0.008
18	46385708	T	G	18	48859337	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0975477123763378	0.2
18	46385709	C	A	18	48859338	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00189000348545653	0.258
18	46385709	C	G	18	48859338	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.00126373660529483	0.214
18	46385709	C	T	18	48859338	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	5.19882284067062E-5	0.02
18	46385710	T	A	18	48859339	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.953583235891815	0.83
18	46385710	T	C	18	48859339	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	4.77522470744878E-5	0.004
18	46385710	T	G	18	48859339	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0528562894185595	0.202
18	46385711	G	A	18	48859340	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	8.62469176873197E-5	0.004
18	46385711	G	C	18	48859340	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	2.30658196522399E-5	0.004
18	46385711	G	T	18	48859340	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	1.03163548793817E-4	0.014
18	46385712	C	A	18	48859341	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.99725489067305	0.842
18	46385712	C	G	18	48859341	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.999698239415679	0.962
18	46385712	C	T	18	48859341	y	y	intronic	CTIF	.	.	intronic	ENSG00000134030	.	.	0.0176110511718547	0.142
18	46385713	A	C	18	48859342	y	y	splicing	CTIF(NM_001142397:exon13:c.1588-2A>C;NM_014772:exon12:c.1582-2A>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon12:c.1582-2A>C;ENST00000382998:exon13:c.1588-2A>C)	.	.	0.999989917668626	0.942
18	46385713	A	G	18	48859342	y	y	splicing	CTIF(NM_001142397:exon13:c.1588-2A>G;NM_014772:exon12:c.1582-2A>G)	.	.	splicing	ENSG00000134030(ENST00000256413:exon12:c.1582-2A>G;ENST00000382998:exon13:c.1588-2A>G)	.	.	0.999989917668626	0.942
18	46385713	A	T	18	48859342	y	y	splicing	CTIF(NM_001142397:exon13:c.1588-2A>T;NM_014772:exon12:c.1582-2A>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon12:c.1582-2A>T;ENST00000382998:exon13:c.1588-2A>T)	.	.	0.999989917668626	0.942
18	46385714	G	A	18	48859343	y	y	splicing	CTIF(NM_001142397:exon13:c.1588-1G>A;NM_014772:exon12:c.1582-1G>A)	.	.	splicing	ENSG00000134030(ENST00000256413:exon12:c.1582-1G>A;ENST00000382998:exon13:c.1588-1G>A)	.	.	0.999986675681007	0.954
18	46385714	G	C	18	48859343	y	y	splicing	CTIF(NM_001142397:exon13:c.1588-1G>C;NM_014772:exon12:c.1582-1G>C)	.	.	splicing	ENSG00000134030(ENST00000256413:exon12:c.1582-1G>C;ENST00000382998:exon13:c.1588-1G>C)	.	.	0.999986675681007	0.954
18	46385714	G	T	18	48859343	y	y	splicing	CTIF(NM_001142397:exon13:c.1588-1G>T;NM_014772:exon12:c.1582-1G>T)	.	.	splicing	ENSG00000134030(ENST00000256413:exon12:c.1582-1G>T;ENST00000382998:exon13:c.1588-1G>T)	.	.	0.999986675681007	0.954
18	46385715	C	A	18	48859344	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon12:c.C1582A:p.L528M;CTIF:NM_001142397:exon13:c.C1588A:p.L530M;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon12:c.C1582A:p.L528M;ENSG00000134030:ENST00000382998:exon13:c.C1588A:p.L530M;	0.843116011052595	0.648
18	46385715	C	G	18	48859344	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon12:c.C1582G:p.L528V;CTIF:NM_001142397:exon13:c.C1588G:p.L530V;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon12:c.C1582G:p.L528V;ENSG00000134030:ENST00000382998:exon13:c.C1588G:p.L530V;	0.00900002828192411	0.12
18	46385715	C	T	18	48859344	y	y	exonic	CTIF	synonymous SNV	CTIF:NM_014772:exon12:c.C1582T:p.L528L;CTIF:NM_001142397:exon13:c.C1588T:p.L530L;	exonic	ENSG00000134030	synonymous SNV	ENSG00000134030:ENST00000256413:exon12:c.C1582T:p.L528L;ENSG00000134030:ENST00000382998:exon13:c.C1588T:p.L530L;	0.0450653148081109	0.326
18	46385716	T	A	18	48859345	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon12:c.T1583A:p.L528Q;CTIF:NM_001142397:exon13:c.T1589A:p.L530Q;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon12:c.T1583A:p.L528Q;ENSG00000134030:ENST00000382998:exon13:c.T1589A:p.L530Q;	0.119659449367809	0.414
18	46385716	T	C	18	48859345	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon12:c.T1583C:p.L528P;CTIF:NM_001142397:exon13:c.T1589C:p.L530P;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon12:c.T1583C:p.L528P;ENSG00000134030:ENST00000382998:exon13:c.T1589C:p.L530P;	0.131843447261566	0.266
18	46385716	T	G	18	48859345	y	y	exonic	CTIF	nonsynonymous SNV	CTIF:NM_014772:exon12:c.T1583G:p.L528R;CTIF:NM_001142397:exon13:c.T1589G:p.L530R;	exonic	ENSG00000134030	nonsynonymous SNV	ENSG00000134030:ENST00000256413:exon12:c.T1583G:p.L528R;ENSG00000134030:ENST00000382998:exon13:c.T1589G:p.L530R;	0.237861451308481	0.276
18	46448279	A	C	18	48921909	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon4:c.T744G:p.D248E;SMAD7:NM_001190823:exon2:c.T180G:p.D60E;SMAD7:NM_001190821:exon4:c.T741G:p.D247E;SMAD7:NM_001190822:exon4:c.T99G:p.D33E;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon4:c.T744G:p.D248E;ENSG00000101665:ENST00000591805:exon4:c.T99G:p.D33E;ENSG00000101665:ENST00000586093:exon3:c.T99G:p.D33E;ENSG00000101665:ENST00000589634:exon4:c.T741G:p.D247E;	0.465004117535178	0.272
18	46448279	A	G	18	48921909	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon4:c.T744C:p.D248D;SMAD7:NM_001190823:exon2:c.T180C:p.D60D;SMAD7:NM_001190821:exon4:c.T741C:p.D247D;SMAD7:NM_001190822:exon4:c.T99C:p.D33D;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon4:c.T744C:p.D248D;ENSG00000101665:ENST00000591805:exon4:c.T99C:p.D33D;ENSG00000101665:ENST00000586093:exon3:c.T99C:p.D33D;ENSG00000101665:ENST00000589634:exon4:c.T741C:p.D247D;	0.362728039381518	0.214
18	46448279	A	T	18	48921909	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon4:c.T744A:p.D248E;SMAD7:NM_001190823:exon2:c.T180A:p.D60E;SMAD7:NM_001190821:exon4:c.T741A:p.D247E;SMAD7:NM_001190822:exon4:c.T99A:p.D33E;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon4:c.T744A:p.D248E;ENSG00000101665:ENST00000591805:exon4:c.T99A:p.D33E;ENSG00000101665:ENST00000586093:exon3:c.T99A:p.D33E;ENSG00000101665:ENST00000589634:exon4:c.T741A:p.D247E;	0.639921671665978	0.286
18	46448280	T	A	18	48921910	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon4:c.A743T:p.D248V;SMAD7:NM_001190823:exon2:c.A179T:p.D60V;SMAD7:NM_001190821:exon4:c.A740T:p.D247V;SMAD7:NM_001190822:exon4:c.A98T:p.D33V;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon4:c.A743T:p.D248V;ENSG00000101665:ENST00000591805:exon4:c.A98T:p.D33V;ENSG00000101665:ENST00000586093:exon3:c.A98T:p.D33V;ENSG00000101665:ENST00000589634:exon4:c.A740T:p.D247V;	0.661530171880302	0.454
18	46448280	T	C	18	48921910	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon4:c.A743G:p.D248G;SMAD7:NM_001190823:exon2:c.A179G:p.D60G;SMAD7:NM_001190821:exon4:c.A740G:p.D247G;SMAD7:NM_001190822:exon4:c.A98G:p.D33G;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon4:c.A743G:p.D248G;ENSG00000101665:ENST00000591805:exon4:c.A98G:p.D33G;ENSG00000101665:ENST00000586093:exon3:c.A98G:p.D33G;ENSG00000101665:ENST00000589634:exon4:c.A740G:p.D247G;	0.485386872946823	0.336
18	46448280	T	G	18	48921910	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon4:c.A743C:p.D248A;SMAD7:NM_001190823:exon2:c.A179C:p.D60A;SMAD7:NM_001190821:exon4:c.A740C:p.D247A;SMAD7:NM_001190822:exon4:c.A98C:p.D33A;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon4:c.A743C:p.D248A;ENSG00000101665:ENST00000591805:exon4:c.A98C:p.D33A;ENSG00000101665:ENST00000586093:exon3:c.A98C:p.D33A;ENSG00000101665:ENST00000589634:exon4:c.A740C:p.D247A;	0.469790160282121	0.51
18	46448281	C	A	18	48921911	y	y	splicing	SMAD7(NM_005904:exon5:c.743-1G>T;NM_001190823:exon3:c.179-1G>T;NM_001190821:exon5:c.740-1G>T;NM_001190822:exon5:c.98-1G>T)	.	.	splicing	ENSG00000101665(ENST00000262158:exon5:c.743-1G>T;ENST00000591805:exon5:c.98-1G>T;ENST00000589634:exon5:c.740-1G>T;ENST00000586093:exon4:c.98-1G>T)	.	.	0.999986675681007	0.93
18	46448281	C	G	18	48921911	y	y	splicing	SMAD7(NM_005904:exon5:c.743-1G>C;NM_001190823:exon3:c.179-1G>C;NM_001190821:exon5:c.740-1G>C;NM_001190822:exon5:c.98-1G>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon5:c.743-1G>C;ENST00000591805:exon5:c.98-1G>C;ENST00000589634:exon5:c.740-1G>C;ENST00000586093:exon4:c.98-1G>C)	.	.	0.999986675681007	0.93
18	46448281	C	T	18	48921911	y	y	splicing	SMAD7(NM_005904:exon5:c.743-1G>A;NM_001190823:exon3:c.179-1G>A;NM_001190821:exon5:c.740-1G>A;NM_001190822:exon5:c.98-1G>A)	.	.	splicing	ENSG00000101665(ENST00000262158:exon5:c.743-1G>A;ENST00000591805:exon5:c.98-1G>A;ENST00000589634:exon5:c.740-1G>A;ENST00000586093:exon4:c.98-1G>A)	.	.	0.999986675681007	0.93
18	46448282	T	A	18	48921912	y	y	splicing	SMAD7(NM_005904:exon5:c.743-2A>T;NM_001190823:exon3:c.179-2A>T;NM_001190821:exon5:c.740-2A>T;NM_001190822:exon5:c.98-2A>T)	.	.	splicing	ENSG00000101665(ENST00000262158:exon5:c.743-2A>T;ENST00000591805:exon5:c.98-2A>T;ENST00000589634:exon5:c.740-2A>T;ENST00000586093:exon4:c.98-2A>T)	.	.	0.999988247793601	0.926
18	46448282	T	C	18	48921912	y	y	splicing	SMAD7(NM_005904:exon5:c.743-2A>G;NM_001190823:exon3:c.179-2A>G;NM_001190821:exon5:c.740-2A>G;NM_001190822:exon5:c.98-2A>G)	.	.	splicing	ENSG00000101665(ENST00000262158:exon5:c.743-2A>G;ENST00000591805:exon5:c.98-2A>G;ENST00000589634:exon5:c.740-2A>G;ENST00000586093:exon4:c.98-2A>G)	.	.	0.999988247793601	0.926
18	46448282	T	G	18	48921912	y	y	splicing	SMAD7(NM_005904:exon5:c.743-2A>C;NM_001190823:exon3:c.179-2A>C;NM_001190821:exon5:c.740-2A>C;NM_001190822:exon5:c.98-2A>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon5:c.743-2A>C;ENST00000591805:exon5:c.98-2A>C;ENST00000589634:exon5:c.740-2A>C;ENST00000586093:exon4:c.98-2A>C)	.	.	0.999988247793601	0.926
18	46448283	A	C	18	48921913	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.642090649706933	0.612
18	46448283	A	G	18	48921913	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	2.68456033627135E-5	0.002
18	46448283	A	T	18	48921913	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.00948287558761888	0.232
18	46448284	G	A	18	48921914	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.55432373954523E-5	0.0
18	46448284	G	C	18	48921914	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.24179264022456E-4	0.002
18	46448284	G	T	18	48921914	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.55432373954523E-5	0.0
18	46448285	A	C	18	48921915	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.643546881651622	0.576
18	46448285	A	G	18	48921915	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.00488670481300436	0.142
18	46448285	A	T	18	48921915	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.850973356713152	0.606
18	46448286	A	C	18	48921916	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.94092519910242	0.64
18	46448286	A	G	18	48921916	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	4.29875026572274E-4	0.022
18	46448286	A	T	18	48921916	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.840821527763329	0.568
18	46448287	A	C	18	48921917	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.00214459356913063	0.052
18	46448287	A	G	18	48921917	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	9.86692031314061E-5	0.026
18	46448287	A	T	18	48921917	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.00466389930417251	0.038
18	46448288	A	C	18	48921918	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.205494260059295	0.404
18	46448288	A	G	18	48921918	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.00228429759323839	0.034
18	46448288	A	T	18	48921918	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.81867800227393	0.644
18	46448289	C	A	18	48921919	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.00194896547796845	0.112
18	46448289	C	G	18	48921919	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	4.84598559262339E-4	0.094
18	46448289	C	T	18	48921919	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.00391182513342636	0.22
18	46448290	A	C	18	48921920	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.995878257749243	0.9
18	46448290	A	G	18	48921920	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.0814315419376295	0.314
18	46448290	A	T	18	48921920	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999948015019093	0.986
18	46448291	C	A	18	48921921	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	2.09285104411039E-4	0.07
18	46448291	C	G	18	48921921	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	2.65103424701164E-4	0.006
18	46448291	C	T	18	48921921	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.0015907533580197	0.108
18	46448292	A	C	18	48921922	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999594940492787	0.96
18	46448292	A	G	18	48921922	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	8.08235038965977E-4	0.028
18	46448292	A	T	18	48921922	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999870892543093	0.976
18	46468843	C	A	18	48942473	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	2.52960061164823E-4	0.03
18	46468843	C	G	18	48942473	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.87492138430343E-4	0.022
18	46468843	C	T	18	48942473	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	2.52960061164823E-4	0.008
18	46468844	A	C	18	48942474	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.53167677647009E-5	0.01
18	46468844	A	G	18	48942474	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	2.42052666328993E-5	0.01
18	46468844	A	T	18	48942474	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.39352476657446E-5	0.002
18	46468845	T	A	18	48942475	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.99994095379984E-5	0.004
18	46468845	T	C	18	48942475	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.54441041295268E-5	0.0
18	46468845	T	G	18	48942475	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	6.71449904655211E-4	0.018
18	46468846	C	A	18	48942476	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.972905390074593	0.574
18	46468846	C	G	18	48942476	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.820059550511607	0.604
18	46468846	C	T	18	48942476	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.986598226462398	0.688
18	46468847	T	A	18	48942477	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.18463618496217	0.24
18	46468847	T	C	18	48942477	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.323539734988137	0.334
18	46468847	T	G	18	48942477	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.192828505554143	0.248
18	46468848	T	A	18	48942478	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.733662167868954	0.612
18	46468848	T	C	18	48942478	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	9.2190120310861E-4	0.188
18	46468848	T	G	18	48942478	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.825963544863588	0.626
18	46468849	A	C	18	48942479	y	y	splicing	SMAD7(NM_005904:exon4:c.742+2T>G;NM_001190823:exon2:c.178+2T>G;NM_001190821:exon4:c.739+2T>G;NM_001190822:exon4:c.97+2T>G)	.	.	splicing	ENSG00000101665(ENST00000262158:exon4:c.742+2T>G;ENST00000591805:exon4:c.97+2T>G;ENST00000589634:exon4:c.739+2T>G;ENST00000586093:exon3:c.97+2T>G)	.	.	0.999981808176352	0.918
18	46468849	A	G	18	48942479	y	y	splicing	SMAD7(NM_005904:exon4:c.742+2T>C;NM_001190823:exon2:c.178+2T>C;NM_001190821:exon4:c.739+2T>C;NM_001190822:exon4:c.97+2T>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon4:c.742+2T>C;ENST00000591805:exon4:c.97+2T>C;ENST00000589634:exon4:c.739+2T>C;ENST00000586093:exon3:c.97+2T>C)	.	.	0.975283795671195	0.556
18	46468849	A	T	18	48942479	y	y	splicing	SMAD7(NM_005904:exon4:c.742+2T>A;NM_001190823:exon2:c.178+2T>A;NM_001190821:exon4:c.739+2T>A;NM_001190822:exon4:c.97+2T>A)	.	.	splicing	ENSG00000101665(ENST00000262158:exon4:c.742+2T>A;ENST00000591805:exon4:c.97+2T>A;ENST00000589634:exon4:c.739+2T>A;ENST00000586093:exon3:c.97+2T>A)	.	.	0.999981808176352	0.916
18	46468850	C	A	18	48942480	y	y	splicing	SMAD7(NM_005904:exon4:c.742+1G>T;NM_001190823:exon2:c.178+1G>T;NM_001190821:exon4:c.739+1G>T;NM_001190822:exon4:c.97+1G>T)	.	.	splicing	ENSG00000101665(ENST00000262158:exon4:c.742+1G>T;ENST00000591805:exon4:c.97+1G>T;ENST00000589634:exon4:c.739+1G>T;ENST00000586093:exon3:c.97+1G>T)	.	.	0.999984815981472	0.92
18	46468850	C	G	18	48942480	y	y	splicing	SMAD7(NM_005904:exon4:c.742+1G>C;NM_001190823:exon2:c.178+1G>C;NM_001190821:exon4:c.739+1G>C;NM_001190822:exon4:c.97+1G>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon4:c.742+1G>C;ENST00000591805:exon4:c.97+1G>C;ENST00000589634:exon4:c.739+1G>C;ENST00000586093:exon3:c.97+1G>C)	.	.	0.999984815981472	0.92
18	46468850	C	T	18	48942480	y	y	splicing	SMAD7(NM_005904:exon4:c.742+1G>A;NM_001190823:exon2:c.178+1G>A;NM_001190821:exon4:c.739+1G>A;NM_001190822:exon4:c.97+1G>A)	.	.	splicing	ENSG00000101665(ENST00000262158:exon4:c.742+1G>A;ENST00000591805:exon4:c.97+1G>A;ENST00000589634:exon4:c.739+1G>A;ENST00000586093:exon3:c.97+1G>A)	.	.	0.999984815981472	0.92
18	46468851	C	A	18	48942481	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon3:c.G742T:p.D248Y;SMAD7:NM_001190823:exon1:c.G178T:p.D60Y;SMAD7:NM_001190821:exon3:c.G739T:p.D247Y;SMAD7:NM_001190822:exon3:c.G97T:p.D33Y;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.G742T:p.D248Y;ENSG00000101665:ENST00000591805:exon3:c.G97T:p.D33Y;ENSG00000101665:ENST00000586093:exon2:c.G97T:p.D33Y;ENSG00000101665:ENST00000589634:exon3:c.G739T:p.D247Y;	0.999936976186248	0.962
18	46468851	C	G	18	48942481	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon3:c.G742C:p.D248H;SMAD7:NM_001190823:exon1:c.G178C:p.D60H;SMAD7:NM_001190821:exon3:c.G739C:p.D247H;SMAD7:NM_001190822:exon3:c.G97C:p.D33H;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.G742C:p.D248H;ENSG00000101665:ENST00000591805:exon3:c.G97C:p.D33H;ENSG00000101665:ENST00000586093:exon2:c.G97C:p.D33H;ENSG00000101665:ENST00000589634:exon3:c.G739C:p.D247H;	0.999939044881035	0.934
18	46468851	C	T	18	48942481	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon3:c.G742A:p.D248N;SMAD7:NM_001190823:exon1:c.G178A:p.D60N;SMAD7:NM_001190821:exon3:c.G739A:p.D247N;SMAD7:NM_001190822:exon3:c.G97A:p.D33N;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.G742A:p.D248N;ENSG00000101665:ENST00000591805:exon3:c.G97A:p.D33N;ENSG00000101665:ENST00000586093:exon2:c.G97A:p.D33N;ENSG00000101665:ENST00000589634:exon3:c.G739A:p.D247N;	0.999879980957317	0.962
18	46468852	T	A	18	48942482	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon3:c.A741T:p.S247S;SMAD7:NM_001190823:exon1:c.A177T:p.S59S;SMAD7:NM_001190821:exon3:c.A738T:p.S246S;SMAD7:NM_001190822:exon3:c.A96T:p.S32S;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.A741T:p.S247S;ENSG00000101665:ENST00000591805:exon3:c.A96T:p.S32S;ENSG00000101665:ENST00000586093:exon2:c.A96T:p.S32S;ENSG00000101665:ENST00000589634:exon3:c.A738T:p.S246S;	0.987261666767314	0.706
18	46468852	T	C	18	48942482	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon3:c.A741G:p.S247S;SMAD7:NM_001190823:exon1:c.A177G:p.S59S;SMAD7:NM_001190821:exon3:c.A738G:p.S246S;SMAD7:NM_001190822:exon3:c.A96G:p.S32S;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.A741G:p.S247S;ENSG00000101665:ENST00000591805:exon3:c.A96G:p.S32S;ENSG00000101665:ENST00000586093:exon2:c.A96G:p.S32S;ENSG00000101665:ENST00000589634:exon3:c.A738G:p.S246S;	0.978518497879339	0.918
18	46468852	T	G	18	48942482	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon3:c.A741C:p.S247S;SMAD7:NM_001190823:exon1:c.A177C:p.S59S;SMAD7:NM_001190821:exon3:c.A738C:p.S246S;SMAD7:NM_001190822:exon3:c.A96C:p.S32S;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.A741C:p.S247S;ENSG00000101665:ENST00000591805:exon3:c.A96C:p.S32S;ENSG00000101665:ENST00000586093:exon2:c.A96C:p.S32S;ENSG00000101665:ENST00000589634:exon3:c.A738C:p.S246S;	0.962962971314569	0.832
18	46468853	G	A	18	48942483	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon3:c.C740T:p.S247L;SMAD7:NM_001190823:exon1:c.C176T:p.S59L;SMAD7:NM_001190821:exon3:c.C737T:p.S246L;SMAD7:NM_001190822:exon3:c.C95T:p.S32L;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.C740T:p.S247L;ENSG00000101665:ENST00000591805:exon3:c.C95T:p.S32L;ENSG00000101665:ENST00000586093:exon2:c.C95T:p.S32L;ENSG00000101665:ENST00000589634:exon3:c.C737T:p.S246L;	0.988518508912446	0.73
18	46468853	G	C	18	48942483	y	y	exonic	SMAD7	stopgain SNV	SMAD7:NM_005904:exon3:c.C740G:p.S247X;SMAD7:NM_001190823:exon1:c.C176G:p.S59X;SMAD7:NM_001190821:exon3:c.C737G:p.S246X;SMAD7:NM_001190822:exon3:c.C95G:p.S32X;	exonic	ENSG00000101665	stopgain SNV	ENSG00000101665:ENST00000262158:exon3:c.C740G:p.S247X;ENSG00000101665:ENST00000591805:exon3:c.C95G:p.S32X;ENSG00000101665:ENST00000586093:exon2:c.C95G:p.S32X;ENSG00000101665:ENST00000589634:exon3:c.C737G:p.S246X;	0.629661390318398	0.65
18	46468853	G	T	18	48942483	y	y	exonic	SMAD7	stopgain SNV	SMAD7:NM_005904:exon3:c.C740A:p.S247X;SMAD7:NM_001190823:exon1:c.C176A:p.S59X;SMAD7:NM_001190821:exon3:c.C737A:p.S246X;SMAD7:NM_001190822:exon3:c.C95A:p.S32X;	exonic	ENSG00000101665	stopgain SNV	ENSG00000101665:ENST00000262158:exon3:c.C740A:p.S247X;ENSG00000101665:ENST00000591805:exon3:c.C95A:p.S32X;ENSG00000101665:ENST00000586093:exon2:c.C95A:p.S32X;ENSG00000101665:ENST00000589634:exon3:c.C737A:p.S246X;	0.80140221792994	0.832
18	46468924	T	A	18	48942554	n	y	exonic;splicing	SMAD7;SMAD7(NM_001190821:exon4:c.668-2A>T)	synonymous SNV	SMAD7:NM_005904:exon3:c.A669T:p.A223A;SMAD7:NM_001190823:exon1:c.A105T:p.A35A;SMAD7:NM_001190822:exon3:c.A24T:p.A8A;	exonic;splicing	ENSG00000101665;ENSG00000101665(ENST00000589634:exon4:c.668-2A>T)	synonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.A669T:p.A223A;ENSG00000101665:ENST00000591805:exon3:c.A24T:p.A8A;ENSG00000101665:ENST00000586093:exon2:c.A24T:p.A8A;	0.0133872505638751	0.198
18	46468924	T	C	18	48942554	n	y	exonic;splicing	SMAD7;SMAD7(NM_001190821:exon4:c.668-2A>G)	synonymous SNV	SMAD7:NM_005904:exon3:c.A669G:p.A223A;SMAD7:NM_001190823:exon1:c.A105G:p.A35A;SMAD7:NM_001190822:exon3:c.A24G:p.A8A;	exonic;splicing	ENSG00000101665;ENSG00000101665(ENST00000589634:exon4:c.668-2A>G)	synonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.A669G:p.A223A;ENSG00000101665:ENST00000591805:exon3:c.A24G:p.A8A;ENSG00000101665:ENST00000586093:exon2:c.A24G:p.A8A;	0.0133738566523874	0.064
18	46468924	T	G	18	48942554	n	y	exonic;splicing	SMAD7;SMAD7(NM_001190821:exon4:c.668-2A>C)	synonymous SNV	SMAD7:NM_005904:exon3:c.A669C:p.A223A;SMAD7:NM_001190823:exon1:c.A105C:p.A35A;SMAD7:NM_001190822:exon3:c.A24C:p.A8A;	exonic;splicing	ENSG00000101665;ENSG00000101665(ENST00000589634:exon4:c.668-2A>C)	synonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.A669C:p.A223A;ENSG00000101665:ENST00000591805:exon3:c.A24C:p.A8A;ENSG00000101665:ENST00000586093:exon2:c.A24C:p.A8A;	0.017242875246296	0.08
18	46468925	G	A	18	48942555	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon3:c.C668T:p.A223V;SMAD7:NM_001190823:exon1:c.C104T:p.A35V;SMAD7:NM_001190822:exon3:c.C23T:p.A8V;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.C668T:p.A223V;ENSG00000101665:ENST00000591805:exon3:c.C23T:p.A8V;ENSG00000101665:ENST00000586093:exon2:c.C23T:p.A8V;	0.921901336156018	0.692
18	46468925	G	C	18	48942555	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon3:c.C668G:p.A223G;SMAD7:NM_001190823:exon1:c.C104G:p.A35G;SMAD7:NM_001190822:exon3:c.C23G:p.A8G;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.C668G:p.A223G;ENSG00000101665:ENST00000591805:exon3:c.C23G:p.A8G;ENSG00000101665:ENST00000586093:exon2:c.C23G:p.A8G;	0.00164206580410394	0.088
18	46468925	G	T	18	48942555	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon3:c.C668A:p.A223E;SMAD7:NM_001190823:exon1:c.C104A:p.A35E;SMAD7:NM_001190822:exon3:c.C23A:p.A8E;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon3:c.C668A:p.A223E;ENSG00000101665:ENST00000591805:exon3:c.C23A:p.A8E;ENSG00000101665:ENST00000586093:exon2:c.C23A:p.A8E;	0.0204055571283376	0.366
18	46468926	C	A	18	48942556	n	y	exonic;splicing	SMAD7;SMAD7(NM_005904:exon4:c.668-1G>T;NM_001190822:exon4:c.23-1G>T)	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.G103T:p.A35S;	splicing	ENSG00000101665(ENST00000262158:exon4:c.668-1G>T;ENST00000591805:exon4:c.23-1G>T;ENST00000586093:exon3:c.23-1G>T)	.	.	0.999991057698317	0.916
18	46468926	C	G	18	48942556	n	y	exonic;splicing	SMAD7;SMAD7(NM_005904:exon4:c.668-1G>C;NM_001190822:exon4:c.23-1G>C)	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.G103C:p.A35P;	splicing	ENSG00000101665(ENST00000262158:exon4:c.668-1G>C;ENST00000591805:exon4:c.23-1G>C;ENST00000586093:exon3:c.23-1G>C)	.	.	0.999991057698317	0.908
18	46468926	C	T	18	48942556	n	y	exonic;splicing	SMAD7;SMAD7(NM_005904:exon4:c.668-1G>A;NM_001190822:exon4:c.23-1G>A)	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.G103A:p.A35T;	splicing	ENSG00000101665(ENST00000262158:exon4:c.668-1G>A;ENST00000591805:exon4:c.23-1G>A;ENST00000586093:exon3:c.23-1G>A)	.	.	0.999991057698317	0.916
18	46468927	T	A	18	48942557	n	y	exonic;splicing	SMAD7;SMAD7(NM_005904:exon4:c.668-2A>T;NM_001190822:exon4:c.23-2A>T)	synonymous SNV	SMAD7:NM_001190823:exon1:c.A102T:p.T34T;	splicing	ENSG00000101665(ENST00000262158:exon4:c.668-2A>T;ENST00000591805:exon4:c.23-2A>T;ENST00000586093:exon3:c.23-2A>T)	.	.	0.999993157857256	0.91
18	46468927	T	C	18	48942557	n	y	exonic;splicing	SMAD7;SMAD7(NM_005904:exon4:c.668-2A>G;NM_001190822:exon4:c.23-2A>G)	synonymous SNV	SMAD7:NM_001190823:exon1:c.A102G:p.T34T;	splicing	ENSG00000101665(ENST00000262158:exon4:c.668-2A>G;ENST00000591805:exon4:c.23-2A>G;ENST00000586093:exon3:c.23-2A>G)	.	.	0.999990462646929	0.906
18	46468927	T	G	18	48942557	n	y	exonic;splicing	SMAD7;SMAD7(NM_005904:exon4:c.668-2A>C;NM_001190822:exon4:c.23-2A>C)	synonymous SNV	SMAD7:NM_001190823:exon1:c.A102C:p.T34T;	splicing	ENSG00000101665(ENST00000262158:exon4:c.668-2A>C;ENST00000591805:exon4:c.23-2A>C;ENST00000586093:exon3:c.23-2A>C)	.	.	0.999990462646929	0.906
18	46468928	G	A	18	48942558	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.C101T:p.T34I;	intronic	ENSG00000101665	.	.	0.0377305819201611	0.298
18	46468928	G	C	18	48942558	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.C101G:p.T34R;	intronic	ENSG00000101665	.	.	0.999714011115664	0.86
18	46468928	G	T	18	48942558	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.C101A:p.T34K;	intronic	ENSG00000101665	.	.	0.984141011570032	0.88
18	46468929	T	A	18	48942559	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A100T:p.T34S;	intronic	ENSG00000101665	.	.	4.18756118947891E-4	0.004
18	46468929	T	C	18	48942559	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A100G:p.T34A;	intronic	ENSG00000101665	.	.	1.45668468133236E-4	0.016
18	46468929	T	G	18	48942559	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A100C:p.T34P;	intronic	ENSG00000101665	.	.	2.70224619758048E-4	0.008
18	46468930	G	A	18	48942560	n	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_001190823:exon1:c.C99T:p.S33S;	intronic	ENSG00000101665	.	.	2.56135128645562E-5	0.0
18	46468930	G	C	18	48942560	n	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_001190823:exon1:c.C99G:p.S33S;	intronic	ENSG00000101665	.	.	0.00202469854925462	0.132
18	46468930	G	T	18	48942560	n	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_001190823:exon1:c.C99A:p.S33S;	intronic	ENSG00000101665	.	.	6.49374246762064E-4	0.024
18	46468931	G	A	18	48942561	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.C98T:p.S33F;	intronic	ENSG00000101665	.	.	3.83001860637457E-4	0.068
18	46468931	G	C	18	48942561	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.C98G:p.S33C;	intronic	ENSG00000101665	.	.	0.110873303483415	0.562
18	46468931	G	T	18	48942561	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.C98A:p.S33Y;	intronic	ENSG00000101665	.	.	0.0896899623381878	0.574
18	46468932	A	C	18	48942562	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.T97G:p.S33A;	intronic	ENSG00000101665	.	.	0.999869772823743	0.98
18	46468932	A	G	18	48942562	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.T97C:p.S33P;	intronic	ENSG00000101665	.	.	3.83092014858492E-5	0.018
18	46468932	A	T	18	48942562	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.T97A:p.S33T;	intronic	ENSG00000101665	.	.	0.107502979046587	0.342
18	46468933	T	A	18	48942563	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A96T:p.K32N;	intronic	ENSG00000101665	.	.	3.75807469612524E-4	0.02
18	46468933	T	C	18	48942563	n	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_001190823:exon1:c.A96G:p.K32K;	intronic	ENSG00000101665	.	.	0.998199296953075	0.94
18	46468933	T	G	18	48942563	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A96C:p.K32N;	intronic	ENSG00000101665	.	.	2.74185194028185E-4	0.008
18	46468934	T	A	18	48942564	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A95T:p.K32I;	intronic	ENSG00000101665	.	.	3.63504271577334E-4	0.08
18	46468934	T	C	18	48942564	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A95G:p.K32R;	intronic	ENSG00000101665	.	.	0.999347607514465	0.936
18	46468934	T	G	18	48942564	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A95C:p.K32T;	intronic	ENSG00000101665	.	.	9.93370236320117E-5	0.042
18	46468935	T	A	18	48942565	n	y	exonic	SMAD7	stopgain SNV	SMAD7:NM_001190823:exon1:c.A94T:p.K32X;	intronic	ENSG00000101665	.	.	8.85175772103362E-5	0.05
18	46468935	T	C	18	48942565	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A94G:p.K32E;	intronic	ENSG00000101665	.	.	4.82782191764161E-4	0.03
18	46468935	T	G	18	48942565	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.A94C:p.K32Q;	intronic	ENSG00000101665	.	.	6.61953440175827E-5	0.044
18	46468936	G	A	18	48942566	n	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_001190823:exon1:c.C93T:p.F31F;	intronic	ENSG00000101665	.	.	6.49557434783687E-5	0.044
18	46468936	G	C	18	48942566	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.C93G:p.F31L;	intronic	ENSG00000101665	.	.	0.00115418020243453	0.168
18	46468936	G	T	18	48942566	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.C93A:p.F31L;	intronic	ENSG00000101665	.	.	0.00170056928573904	0.134
18	46468937	A	C	18	48942567	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.T92G:p.F31C;	intronic	ENSG00000101665	.	.	0.173185957479093	0.504
18	46468937	A	G	18	48942567	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.T92C:p.F31S;	intronic	ENSG00000101665	.	.	2.33583531532102E-4	0.086
18	46468937	A	T	18	48942567	n	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_001190823:exon1:c.T92A:p.F31Y;	intronic	ENSG00000101665	.	.	0.196440870431681	0.55
18	46474746	C	A	18	48948376	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.0135310146574837	0.044
18	46474746	C	G	18	48948376	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.0135310146574837	0.042
18	46474746	C	T	18	48948376	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.0166789967094713	0.052
18	46474747	T	A	18	48948377	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	4.95091315186922E-5	0.0
18	46474747	T	C	18	48948377	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	4.63149419592961E-5	0.0
18	46474747	T	G	18	48948377	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.40408034059996E-4	0.0
18	46474748	A	C	18	48948378	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.881408872514619	0.528
18	46474748	A	G	18	48948378	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.927074623806278	0.644
18	46474748	A	T	18	48948378	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.977756880314787	0.706
18	46474749	C	A	18	48948379	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999749382915256	0.824
18	46474749	C	G	18	48948379	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999596601306049	0.958
18	46474749	C	T	18	48948379	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999831006010238	0.902
18	46474750	T	A	18	48948380	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999516647497995	0.85
18	46474750	T	C	18	48948380	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999186230032834	0.932
18	46474750	T	G	18	48948380	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.998453417811204	0.878
18	46474751	C	A	18	48948381	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.997893138850179	0.9
18	46474751	C	G	18	48948381	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999476691944485	0.938
18	46474751	C	T	18	48948381	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.0526838274949353	0.282
18	46474752	A	C	18	48948382	y	y	splicing	SMAD7(NM_005904:exon3:c.667+2T>G;NM_001190821:exon3:c.667+2T>G;NM_001190822:exon3:c.22+2T>G)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.667+2T>G;ENST00000591805:exon3:c.22+2T>G;ENST00000589634:exon3:c.667+2T>G;ENST00000586093:exon2:c.22+2T>G)	.	.	0.999989917668626	0.928
18	46474752	A	G	18	48948382	y	y	splicing	SMAD7(NM_005904:exon3:c.667+2T>C;NM_001190821:exon3:c.667+2T>C;NM_001190822:exon3:c.22+2T>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.667+2T>C;ENST00000591805:exon3:c.22+2T>C;ENST00000589634:exon3:c.667+2T>C;ENST00000586093:exon2:c.22+2T>C)	.	.	0.999927254940125	0.866
18	46474752	A	T	18	48948382	y	y	splicing	SMAD7(NM_005904:exon3:c.667+2T>A;NM_001190821:exon3:c.667+2T>A;NM_001190822:exon3:c.22+2T>A)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.667+2T>A;ENST00000591805:exon3:c.22+2T>A;ENST00000589634:exon3:c.667+2T>A;ENST00000586093:exon2:c.22+2T>A)	.	.	0.999989917668626	0.928
18	46474753	C	A	18	48948383	y	y	splicing	SMAD7(NM_005904:exon3:c.667+1G>T;NM_001190821:exon3:c.667+1G>T;NM_001190822:exon3:c.22+1G>T)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.667+1G>T;ENST00000591805:exon3:c.22+1G>T;ENST00000589634:exon3:c.667+1G>T;ENST00000586093:exon2:c.22+1G>T)	.	.	0.999986675681007	0.934
18	46474753	C	G	18	48948383	y	y	splicing	SMAD7(NM_005904:exon3:c.667+1G>C;NM_001190821:exon3:c.667+1G>C;NM_001190822:exon3:c.22+1G>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.667+1G>C;ENST00000591805:exon3:c.22+1G>C;ENST00000589634:exon3:c.667+1G>C;ENST00000586093:exon2:c.22+1G>C)	.	.	0.999986675681007	0.934
18	46474753	C	T	18	48948383	y	y	splicing	SMAD7(NM_005904:exon3:c.667+1G>A;NM_001190821:exon3:c.667+1G>A;NM_001190822:exon3:c.22+1G>A)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.667+1G>A;ENST00000591805:exon3:c.22+1G>A;ENST00000589634:exon3:c.667+1G>A;ENST00000586093:exon2:c.22+1G>A)	.	.	0.999986675681007	0.934
18	46474754	C	A	18	48948384	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.G667T:p.A223S;SMAD7:NM_001190821:exon2:c.G667T:p.D223Y;SMAD7:NM_001190822:exon2:c.G22T:p.A8S;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.G667T:p.A223S;ENSG00000101665:ENST00000591805:exon2:c.G22T:p.A8S;ENSG00000101665:ENST00000586093:exon1:c.G22T:p.A8S;ENSG00000101665:ENST00000589634:exon2:c.G667T:p.D223Y;	0.999272677201443	0.936
18	46474754	C	G	18	48948384	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.G667C:p.A223P;SMAD7:NM_001190821:exon2:c.G667C:p.D223H;SMAD7:NM_001190822:exon2:c.G22C:p.A8P;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.G667C:p.A223P;ENSG00000101665:ENST00000591805:exon2:c.G22C:p.A8P;ENSG00000101665:ENST00000586093:exon1:c.G22C:p.A8P;ENSG00000101665:ENST00000589634:exon2:c.G667C:p.D223H;	0.999977114139152	0.954
18	46474754	C	T	18	48948384	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.G667A:p.A223T;SMAD7:NM_001190821:exon2:c.G667A:p.D223N;SMAD7:NM_001190822:exon2:c.G22A:p.A8T;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.G667A:p.A223T;ENSG00000101665:ENST00000591805:exon2:c.G22A:p.A8T;ENSG00000101665:ENST00000586093:exon1:c.G22A:p.A8T;ENSG00000101665:ENST00000589634:exon2:c.G667A:p.D223N;	0.999799952246985	0.982
18	46474755	A	C	18	48948385	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon2:c.T666G:p.T222T;SMAD7:NM_001190821:exon2:c.T666G:p.T222T;SMAD7:NM_001190822:exon2:c.T21G:p.T7T;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.T666G:p.T222T;ENSG00000101665:ENST00000591805:exon2:c.T21G:p.T7T;ENSG00000101665:ENST00000586093:exon1:c.T21G:p.T7T;ENSG00000101665:ENST00000589634:exon2:c.T666G:p.T222T;	0.659335987568838	0.782
18	46474755	A	G	18	48948385	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon2:c.T666C:p.T222T;SMAD7:NM_001190821:exon2:c.T666C:p.T222T;SMAD7:NM_001190822:exon2:c.T21C:p.T7T;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.T666C:p.T222T;ENSG00000101665:ENST00000591805:exon2:c.T21C:p.T7T;ENSG00000101665:ENST00000586093:exon1:c.T21C:p.T7T;ENSG00000101665:ENST00000589634:exon2:c.T666C:p.T222T;	0.612005702609086	0.76
18	46474755	A	T	18	48948385	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon2:c.T666A:p.T222T;SMAD7:NM_001190821:exon2:c.T666A:p.T222T;SMAD7:NM_001190822:exon2:c.T21A:p.T7T;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.T666A:p.T222T;ENSG00000101665:ENST00000591805:exon2:c.T21A:p.T7T;ENSG00000101665:ENST00000586093:exon1:c.T21A:p.T7T;ENSG00000101665:ENST00000589634:exon2:c.T666A:p.T222T;	0.321508685572317	0.448
18	46474756	G	A	18	48948386	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.C665T:p.T222I;SMAD7:NM_001190821:exon2:c.C665T:p.T222I;SMAD7:NM_001190822:exon2:c.C20T:p.T7I;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.C665T:p.T222I;ENSG00000101665:ENST00000591805:exon2:c.C20T:p.T7I;ENSG00000101665:ENST00000586093:exon1:c.C20T:p.T7I;ENSG00000101665:ENST00000589634:exon2:c.C665T:p.T222I;	0.0636796481292194	0.258
18	46474756	G	C	18	48948386	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.C665G:p.T222S;SMAD7:NM_001190821:exon2:c.C665G:p.T222S;SMAD7:NM_001190822:exon2:c.C20G:p.T7S;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.C665G:p.T222S;ENSG00000101665:ENST00000591805:exon2:c.C20G:p.T7S;ENSG00000101665:ENST00000586093:exon1:c.C20G:p.T7S;ENSG00000101665:ENST00000589634:exon2:c.C665G:p.T222S;	0.00943492926541124	0.138
18	46474756	G	T	18	48948386	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.C665A:p.T222N;SMAD7:NM_001190821:exon2:c.C665A:p.T222N;SMAD7:NM_001190822:exon2:c.C20A:p.T7N;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.C665A:p.T222N;ENSG00000101665:ENST00000591805:exon2:c.C20A:p.T7N;ENSG00000101665:ENST00000586093:exon1:c.C20A:p.T7N;ENSG00000101665:ENST00000589634:exon2:c.C665A:p.T222N;	0.684208674521272	0.59
18	46474806	C	A	18	48948436	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.G615T:p.E205D;SMAD7:NM_001190821:exon2:c.G615T:p.E205D;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.G615T:p.E205D;ENSG00000101665:ENST00000589634:exon2:c.G615T:p.E205D;	0.927753697368161	0.79
18	46474806	C	G	18	48948436	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.G615C:p.E205D;SMAD7:NM_001190821:exon2:c.G615C:p.E205D;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.G615C:p.E205D;ENSG00000101665:ENST00000589634:exon2:c.G615C:p.E205D;	0.927961124524529	0.78
18	46474806	C	T	18	48948436	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon2:c.G615A:p.E205E;SMAD7:NM_001190821:exon2:c.G615A:p.E205E;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.G615A:p.E205E;ENSG00000101665:ENST00000589634:exon2:c.G615A:p.E205E;	0.413825257862743	0.504
18	46474807	T	A	18	48948437	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.A614T:p.E205V;SMAD7:NM_001190821:exon2:c.A614T:p.E205V;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.A614T:p.E205V;ENSG00000101665:ENST00000589634:exon2:c.A614T:p.E205V;	0.133219787848527	0.43
18	46474807	T	C	18	48948437	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.A614G:p.E205G;SMAD7:NM_001190821:exon2:c.A614G:p.E205G;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.A614G:p.E205G;ENSG00000101665:ENST00000589634:exon2:c.A614G:p.E205G;	0.304862883187157	0.676
18	46474807	T	G	18	48948437	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon2:c.A614C:p.E205A;SMAD7:NM_001190821:exon2:c.A614C:p.E205A;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon2:c.A614C:p.E205A;ENSG00000101665:ENST00000589634:exon2:c.A614C:p.E205A;	0.117208389730519	0.494
18	46474808	C	A	18	48948438	y	y	splicing	SMAD7(NM_005904:exon3:c.614-1G>T;NM_001190821:exon3:c.614-1G>T)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.614-1G>T;ENST00000589634:exon3:c.614-1G>T)	.	.	0.999986675681007	0.934
18	46474808	C	G	18	48948438	y	y	splicing	SMAD7(NM_005904:exon3:c.614-1G>C;NM_001190821:exon3:c.614-1G>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.614-1G>C;ENST00000589634:exon3:c.614-1G>C)	.	.	0.999986675681007	0.934
18	46474808	C	T	18	48948438	y	y	splicing	SMAD7(NM_005904:exon3:c.614-1G>A;NM_001190821:exon3:c.614-1G>A)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.614-1G>A;ENST00000589634:exon3:c.614-1G>A)	.	.	0.999986675681007	0.934
18	46474809	T	A	18	48948439	y	y	splicing	SMAD7(NM_005904:exon3:c.614-2A>T;NM_001190821:exon3:c.614-2A>T)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.614-2A>T;ENST00000589634:exon3:c.614-2A>T)	.	.	0.999989917668626	0.928
18	46474809	T	C	18	48948439	y	y	splicing	SMAD7(NM_005904:exon3:c.614-2A>G;NM_001190821:exon3:c.614-2A>G)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.614-2A>G;ENST00000589634:exon3:c.614-2A>G)	.	.	0.999989917668626	0.928
18	46474809	T	G	18	48948439	y	y	splicing	SMAD7(NM_005904:exon3:c.614-2A>C;NM_001190821:exon3:c.614-2A>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon3:c.614-2A>C;ENST00000589634:exon3:c.614-2A>C)	.	.	0.999989917668626	0.928
18	46474810	G	A	18	48948440	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.938688220061759	0.372
18	46474810	G	C	18	48948440	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.999931111502841	0.954
18	46474810	G	T	18	48948440	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.999061261712519	0.95
18	46474811	A	C	18	48948441	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	2.50696866139465E-4	0.004
18	46474811	A	G	18	48948441	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	1.21680464368108E-4	0.012
18	46474811	A	T	18	48948441	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	6.14796929927898E-4	0.102
18	46474812	A	C	18	48948442	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.997697096814967	0.904
18	46474812	A	G	18	48948442	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.144161109671778	0.386
18	46474812	A	T	18	48948442	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.995222675602047	0.904
18	46474813	A	C	18	48948443	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.999883913984131	0.966
18	46474813	A	G	18	48948443	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.0143565702923906	0.376
18	46474813	A	T	18	48948443	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.991874528416594	0.814
18	46474814	T	A	18	48948444	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.0242465308265419	0.35
18	46474814	T	C	18	48948444	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.998434060277823	0.918
18	46474814	T	G	18	48948444	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.0176255919860256	0.212
18	46474815	T	A	18	48948445	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	5.2116545332422E-4	0.064
18	46474815	T	C	18	48948445	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.00337423948438515	0.052
18	46474815	T	G	18	48948445	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	5.18046738538192E-4	0.016
18	46474816	A	C	18	48948446	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.0228246454537474	0.388
18	46474816	A	G	18	48948446	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	5.33116260142045E-5	0.018
18	46474816	A	T	18	48948446	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.00470922797389957	0.344
18	46474817	A	C	18	48948447	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.979066770996056	0.802
18	46474817	A	G	18	48948447	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.00375738701437403	0.262
18	46474817	A	T	18	48948447	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.979908980713712	0.802
18	46474818	A	C	18	48948448	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.913636561199963	0.592
18	46474818	A	G	18	48948448	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.00608451539488228	0.128
18	46474818	A	T	18	48948448	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.949563028682072	0.676
18	46474819	A	C	18	48948449	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.935452518472066	0.722
18	46474819	A	G	18	48948449	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.0310902229205305	0.28
18	46474819	A	T	18	48948449	y	y	intronic	SMAD7	.	.	UTR5	ENSG00000101665	.	.	0.990624077972776	0.836
18	46475591	A	C	18	48949221	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.275347142029E-4	0.0
18	46475591	A	G	18	48949221	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.275347142029E-4	0.0
18	46475591	A	T	18	48949221	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	2.0860868878712E-4	0.006
18	46475592	C	A	18	48949222	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.05923468377003E-4	0.01
18	46475592	C	G	18	48949222	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.39218919234988E-4	0.008
18	46475592	C	T	18	48949222	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.05923468377003E-4	0.008
18	46475593	A	C	18	48949223	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.13793253398579E-4	0.01
18	46475593	A	G	18	48949223	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.13793253398579E-4	0.014
18	46475593	A	T	18	48949223	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.13793253398579E-4	0.008
18	46475594	G	A	18	48949224	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.60738954945313E-4	0.016
18	46475594	G	C	18	48949224	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.98800003415471E-4	0.018
18	46475594	G	T	18	48949224	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.60738954945313E-4	0.016
18	46475595	A	C	18	48949225	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.13793253398579E-4	0.008
18	46475595	A	G	18	48949225	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.13793253398579E-4	0.008
18	46475595	A	T	18	48949225	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	3.70608420384104E-4	0.02
18	46475596	T	A	18	48949226	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.4942720485679E-5	0.034
18	46475596	T	C	18	48949226	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	5.8158241469895E-5	0.044
18	46475596	T	G	18	48949226	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	5.8158241469895E-5	0.038
18	46475597	A	C	18	48949227	y	y	splicing	SMAD7	.	.	splicing	ENSG00000101665	.	.	1.20677554267254E-5	0.028
18	46475597	A	G	18	48949227	y	y	splicing	SMAD7	.	.	splicing	ENSG00000101665	.	.	1.20677554267254E-5	0.028
18	46475597	A	T	18	48949227	y	y	splicing	SMAD7	.	.	splicing	ENSG00000101665	.	.	1.20677554267254E-5	0.044
18	46475598	C	A	18	48949228	y	y	splicing	SMAD7	.	.	splicing	ENSG00000101665	.	.	1.81885279198263E-5	0.028
18	46475598	C	G	18	48949228	y	y	splicing	SMAD7	.	.	splicing	ENSG00000101665	.	.	6.62597686139444E-5	0.058
18	46475598	C	T	18	48949228	y	y	splicing	SMAD7	.	.	splicing	ENSG00000101665	.	.	1.81885279198263E-5	0.028
18	46475599	C	A	18	48949229	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	2.35935549228545E-5	0.028
18	46475599	C	G	18	48949229	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	2.56542461894352E-4	0.062
18	46475599	C	T	18	48949229	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	2.46814773625705E-5	0.026
18	46475600	C	A	18	48949230	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	8.20441237158893E-5	0.062
18	46475600	C	G	18	48949230	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	2.34097625724401E-4	0.062
18	46475600	C	T	18	48949230	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	2.25216440690967E-5	0.032
18	46475601	A	C	18	48949231	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	7.54579420252163E-5	0.104
18	46475601	A	G	18	48949231	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	7.54579420252163E-5	0.104
18	46475601	A	T	18	48949231	y	y	UTR5	SMAD7	.	.	UTR5	ENSG00000101665	.	.	8.49630937594934E-5	0.108
18	46476174	C	A	18	48949804	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.40389863860394E-4	0.006
18	46476174	C	G	18	48949804	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.40389863860394E-4	0.014
18	46476174	C	T	18	48949804	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.39058039071365E-4	0.012
18	46476175	T	A	18	48949805	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	6.65121986514382E-4	0.012
18	46476175	T	C	18	48949805	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	8.95081263727789E-4	0.004
18	46476175	T	G	18	48949805	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	8.90425239293507E-4	0.004
18	46476176	T	A	18	48949806	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	2.12695066027118E-4	0.01
18	46476176	T	C	18	48949806	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.5549124346558E-4	0.0
18	46476176	T	G	18	48949806	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	7.18374559460706E-4	0.016
18	46476177	C	A	18	48949807	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.998609928151632	0.914
18	46476177	C	G	18	48949807	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.998819388528361	0.914
18	46476177	C	T	18	48949807	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.999238988688966	0.958
18	46476178	T	A	18	48949808	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.993508501215034	0.62
18	46476178	T	C	18	48949808	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.972074118664311	0.594
18	46476178	T	G	18	48949808	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.951370338381028	0.51
18	46476179	C	A	18	48949809	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.188428128618167	0.304
18	46476179	C	G	18	48949809	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	0.273678540428853	0.336
18	46476179	C	T	18	48949809	y	y	intronic	SMAD7	.	.	intronic	ENSG00000101665	.	.	1.45097145711868E-5	0.004
18	46476180	A	C	18	48949810	y	y	splicing	SMAD7(NM_005904:exon2:c.613+2T>G;NM_001190821:exon2:c.613+2T>G)	.	.	splicing	ENSG00000101665(ENST00000262158:exon2:c.613+2T>G;ENST00000589634:exon2:c.613+2T>G)	.	.	0.999990155693597	0.924
18	46476180	A	G	18	48949810	y	y	splicing	SMAD7(NM_005904:exon2:c.613+2T>C;NM_001190821:exon2:c.613+2T>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon2:c.613+2T>C;ENST00000589634:exon2:c.613+2T>C)	.	.	0.999928972209748	0.84
18	46476180	A	T	18	48949810	y	y	splicing	SMAD7(NM_005904:exon2:c.613+2T>A;NM_001190821:exon2:c.613+2T>A)	.	.	splicing	ENSG00000101665(ENST00000262158:exon2:c.613+2T>A;ENST00000589634:exon2:c.613+2T>A)	.	.	0.999990155693597	0.924
18	46476181	C	A	18	48949811	y	y	splicing	SMAD7(NM_005904:exon2:c.613+1G>T;NM_001190821:exon2:c.613+1G>T)	.	.	splicing	ENSG00000101665(ENST00000262158:exon2:c.613+1G>T;ENST00000589634:exon2:c.613+1G>T)	.	.	0.999986675681007	0.93
18	46476181	C	G	18	48949811	y	y	splicing	SMAD7(NM_005904:exon2:c.613+1G>C;NM_001190821:exon2:c.613+1G>C)	.	.	splicing	ENSG00000101665(ENST00000262158:exon2:c.613+1G>C;ENST00000589634:exon2:c.613+1G>C)	.	.	0.999986675681007	0.918
18	46476181	C	T	18	48949811	y	y	splicing	SMAD7(NM_005904:exon2:c.613+1G>A;NM_001190821:exon2:c.613+1G>A)	.	.	splicing	ENSG00000101665(ENST00000262158:exon2:c.613+1G>A;ENST00000589634:exon2:c.613+1G>A)	.	.	0.999986675681007	0.93
18	46476182	C	A	18	48949812	y	y	exonic	SMAD7	stopgain SNV	SMAD7:NM_005904:exon1:c.G613T:p.E205X;SMAD7:NM_001190821:exon1:c.G613T:p.E205X;	exonic	ENSG00000101665	stopgain SNV	ENSG00000101665:ENST00000262158:exon1:c.G613T:p.E205X;ENSG00000101665:ENST00000589634:exon1:c.G613T:p.E205X;	0.999992446105918	0.918
18	46476182	C	G	18	48949812	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon1:c.G613C:p.E205Q;SMAD7:NM_001190821:exon1:c.G613C:p.E205Q;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon1:c.G613C:p.E205Q;ENSG00000101665:ENST00000589634:exon1:c.G613C:p.E205Q;	0.999993746030495	0.982
18	46476182	C	T	18	48949812	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon1:c.G613A:p.E205K;SMAD7:NM_001190821:exon1:c.G613A:p.E205K;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon1:c.G613A:p.E205K;ENSG00000101665:ENST00000589634:exon1:c.G613A:p.E205K;	0.999983256995436	0.986
18	46476183	T	A	18	48949813	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon1:c.A612T:p.L204L;SMAD7:NM_001190821:exon1:c.A612T:p.L204L;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon1:c.A612T:p.L204L;ENSG00000101665:ENST00000589634:exon1:c.A612T:p.L204L;	0.868601829440726	0.79
18	46476183	T	C	18	48949813	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon1:c.A612G:p.L204L;SMAD7:NM_001190821:exon1:c.A612G:p.L204L;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon1:c.A612G:p.L204L;ENSG00000101665:ENST00000589634:exon1:c.A612G:p.L204L;	0.955860569257208	0.818
18	46476183	T	G	18	48949813	y	y	exonic	SMAD7	synonymous SNV	SMAD7:NM_005904:exon1:c.A612C:p.L204L;SMAD7:NM_001190821:exon1:c.A612C:p.L204L;	exonic	ENSG00000101665	synonymous SNV	ENSG00000101665:ENST00000262158:exon1:c.A612C:p.L204L;ENSG00000101665:ENST00000589634:exon1:c.A612C:p.L204L;	0.857020753715679	0.788
18	46476184	A	C	18	48949814	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon1:c.T611G:p.L204R;SMAD7:NM_001190821:exon1:c.T611G:p.L204R;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon1:c.T611G:p.L204R;ENSG00000101665:ENST00000589634:exon1:c.T611G:p.L204R;	0.316203356566782	0.594
18	46476184	A	G	18	48949814	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon1:c.T611C:p.L204P;SMAD7:NM_001190821:exon1:c.T611C:p.L204P;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon1:c.T611C:p.L204P;ENSG00000101665:ENST00000589634:exon1:c.T611C:p.L204P;	0.00268078170354795	0.078
18	46476184	A	T	18	48949814	y	y	exonic	SMAD7	nonsynonymous SNV	SMAD7:NM_005904:exon1:c.T611A:p.L204Q;SMAD7:NM_001190821:exon1:c.T611A:p.L204Q;	exonic	ENSG00000101665	nonsynonymous SNV	ENSG00000101665:ENST00000262158:exon1:c.T611A:p.L204Q;ENSG00000101665:ENST00000589634:exon1:c.T611A:p.L204Q;	0.290687734913651	0.672
18	46570573	T	A	18	49044203	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon17:c.A1862T:p.K621I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon12:c.A1292T:p.K431I;ENSG00000141627:ENST00000269445:exon17:c.A1862T:p.K621I;	0.0912314080796203	0.234
18	46570573	T	C	18	49044203	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon17:c.A1862G:p.K621R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon12:c.A1292G:p.K431R;ENSG00000141627:ENST00000269445:exon17:c.A1862G:p.K621R;	0.652125644875415	0.532
18	46570573	T	G	18	49044203	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon17:c.A1862C:p.K621T;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon12:c.A1292C:p.K431T;ENSG00000141627:ENST00000269445:exon17:c.A1862C:p.K621T;	0.123271650497078	0.276
18	46570574	T	A	18	49044204	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon17:c.A1861T:p.K621X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000442713:exon12:c.A1291T:p.K431X;ENSG00000141627:ENST00000269445:exon17:c.A1861T:p.K621X;	0.869024945339557	0.656
18	46570574	T	C	18	49044204	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon17:c.A1861G:p.K621E;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon12:c.A1291G:p.K431E;ENSG00000141627:ENST00000269445:exon17:c.A1861G:p.K621E;	0.779096224876225	0.654
18	46570574	T	G	18	49044204	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon17:c.A1861C:p.K621Q;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon12:c.A1291C:p.K431Q;ENSG00000141627:ENST00000269445:exon17:c.A1861C:p.K621Q;	0.862187794742445	0.498
18	46570575	C	A	18	49044205	y	y	splicing	DYM(NM_017653:exon18:c.1861-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon13:c.1291-1G>T;ENST00000577734:exon4:c.188-1G>T;ENST00000269445:exon18:c.1861-1G>T)	.	.	0.999990361384395	0.938
18	46570575	C	G	18	49044205	y	y	splicing	DYM(NM_017653:exon18:c.1861-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon13:c.1291-1G>C;ENST00000577734:exon4:c.188-1G>C;ENST00000269445:exon18:c.1861-1G>C)	.	.	0.999990361384395	0.938
18	46570575	C	T	18	49044205	y	y	splicing	DYM(NM_017653:exon18:c.1861-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon13:c.1291-1G>A;ENST00000577734:exon4:c.188-1G>A;ENST00000269445:exon18:c.1861-1G>A)	.	.	0.999990361384395	0.938
18	46570576	T	A	18	49044206	y	y	splicing	DYM(NM_017653:exon18:c.1861-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon13:c.1291-2A>T;ENST00000577734:exon4:c.188-2A>T;ENST00000269445:exon18:c.1861-2A>T)	.	.	0.999988247793601	0.93
18	46570576	T	C	18	49044206	y	y	splicing	DYM(NM_017653:exon18:c.1861-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon13:c.1291-2A>G;ENST00000577734:exon4:c.188-2A>G;ENST00000269445:exon18:c.1861-2A>G)	.	.	0.999988247793601	0.93
18	46570576	T	G	18	49044206	y	y	splicing	DYM(NM_017653:exon18:c.1861-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon13:c.1291-2A>C;ENST00000577734:exon4:c.188-2A>C;ENST00000269445:exon18:c.1861-2A>C)	.	.	0.999988247793601	0.93
18	46570577	G	A	18	49044207	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.0561642630124929	0.178
18	46570577	G	C	18	49044207	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.999661419683401	0.962
18	46570577	G	T	18	49044207	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.99957674567634	0.798
18	46570578	C	A	18	49044208	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	6.99451476307994E-5	0.0
18	46570578	C	G	18	49044208	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	4.79394964509025E-5	0.0
18	46570578	C	T	18	49044208	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	1.2921418275534E-4	0.0
18	46570579	A	C	18	49044209	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.296745178245683	0.446
18	46570579	A	G	18	49044209	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.0229561058676896	0.19
18	46570579	A	T	18	49044209	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.999940765151173	0.946
18	46570580	A	C	18	49044210	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.999785363513949	0.952
18	46570580	A	G	18	49044210	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	8.40856663668673E-4	0.022
18	46570580	A	T	18	49044210	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.3084757177327	0.47
18	46570581	T	A	18	49044211	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	1.24462446772325E-5	0.0
18	46570581	T	C	18	49044211	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	7.06341561599038E-6	0.0
18	46570581	T	G	18	49044211	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	5.79006486786601E-6	0.0
18	46570582	G	A	18	49044212	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	4.39224749129886E-5	0.0
18	46570582	G	C	18	49044212	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.00526165369347754	0.022
18	46570582	G	T	18	49044212	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.00160569472970431	0.008
18	46570583	A	C	18	49044213	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.0227407257081996	0.344
18	46570583	A	G	18	49044213	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	5.54018509875258E-4	0.108
18	46570583	A	T	18	49044213	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.0254833601971346	0.38
18	46570584	A	C	18	49044214	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.0269045579994833	0.364
18	46570584	A	G	18	49044214	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	1.72121089903785E-4	0.006
18	46570584	A	T	18	49044214	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.0234609054835936	0.434
18	46570585	A	C	18	49044215	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.981223028880155	0.802
18	46570585	A	G	18	49044215	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.233453034665827	0.284
18	46570585	A	T	18	49044215	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.982798219686284	0.86
18	46570586	A	C	18	49044216	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.999780299550039	0.974
18	46570586	A	G	18	49044216	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	7.953389096595E-4	0.084
18	46570586	A	T	18	49044216	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000264269	.	.	0.831211521943991	0.678
18	46619579	C	A	18	49093209	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.44750248965781E-5	0.0
18	46619579	C	G	18	49093209	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.44750248965781E-5	0.0
18	46619579	C	T	18	49093209	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.2358802390823E-5	0.01
18	46619580	G	A	18	49093210	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.37501361942679E-5	0.018
18	46619580	G	C	18	49093210	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.90177193295887E-6	0.004
18	46619580	G	T	18	49093210	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.90177193295887E-6	0.002
18	46619581	G	A	18	49093211	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.78667633506325E-5	0.002
18	46619581	G	C	18	49093211	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.78667633506325E-5	0.002
18	46619581	G	T	18	49093211	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.78667633506325E-5	0.002
18	46619582	C	A	18	49093212	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0086839819578E-5	0.002
18	46619582	C	G	18	49093212	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0086839819578E-5	0.002
18	46619582	C	T	18	49093212	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0086839819578E-5	0.002
18	46619583	T	A	18	49093213	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.07620641825897E-5	0.0
18	46619583	T	C	18	49093213	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.07620641825897E-5	0.0
18	46619583	T	G	18	49093213	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.07620641825897E-5	0.0
18	46619584	C	A	18	49093214	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619584	C	G	18	49093214	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619584	C	T	18	49093214	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.01
18	46619585	A	C	18	49093215	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.187+2T>G)	.	.	3.07620641825897E-5	0.0
18	46619585	A	G	18	49093215	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.187+2T>C)	.	.	1.99153316237132E-5	0.0
18	46619585	A	T	18	49093215	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.187+2T>A)	.	.	3.07620641825897E-5	0.002
18	46619586	C	A	18	49093216	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.187+1G>T)	.	.	3.52173701430229E-5	0.008
18	46619586	C	G	18	49093216	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.187+1G>C)	.	.	1.37501361942679E-5	0.004
18	46619586	C	T	18	49093216	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.187+1G>A)	.	.	6.4243997895107E-5	0.008
18	46619587	C	A	18	49093217	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	4.57607375837078E-5	0.006
18	46619587	C	G	18	49093217	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	1.78667633506325E-5	0.002
18	46619587	C	T	18	49093217	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	6.21978182991299E-5	0.0
18	46619588	T	A	18	49093218	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.00132104877901869	0.006
18	46619588	T	C	18	49093218	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	3.18514214212084E-4	0.116
18	46619588	T	G	18	49093218	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	3.18514214212084E-4	0.078
18	46619589	G	A	18	49093219	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	2.02885091851015E-4	0.044
18	46619589	G	C	18	49093219	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	2.02885091851015E-4	0.046
18	46619589	G	T	18	49093219	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	2.02885091851015E-4	0.046
18	46619680	G	A	18	49093310	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	1.48367148474546E-5	0.004
18	46619680	G	C	18	49093310	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	8.90177193295887E-6	0.002
18	46619680	G	T	18	49093310	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	1.37501361942679E-5	0.002
18	46619681	G	A	18	49093311	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	1.58927937202005E-5	0.002
18	46619681	G	C	18	49093311	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	1.58927937202005E-5	0.002
18	46619681	G	T	18	49093311	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	1.58927937202005E-5	0.002
18	46619682	C	A	18	49093312	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.93-1G>T)	.	.	1.58927937202005E-5	0.002
18	46619682	C	G	18	49093312	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.93-1G>C)	.	.	1.58927937202005E-5	0.002
18	46619682	C	T	18	49093312	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.93-1G>A)	.	.	1.58927937202005E-5	0.002
18	46619683	T	A	18	49093313	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.93-2A>T)	.	.	3.52173701430229E-5	0.008
18	46619683	T	C	18	49093313	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.93-2A>G)	.	.	3.52173701430229E-5	0.008
18	46619683	T	G	18	49093313	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000577734:exon3:c.93-2A>C)	.	.	3.52173701430229E-5	0.01
18	46619684	G	A	18	49093314	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.90177193295887E-6	0.002
18	46619684	G	C	18	49093314	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.90177193295887E-6	0.002
18	46619684	G	T	18	49093314	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.90177193295887E-6	0.004
18	46619685	A	C	18	49093315	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619685	A	G	18	49093315	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619685	A	T	18	49093315	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.58927937202005E-5	0.002
18	46619686	C	A	18	49093316	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46619686	C	G	18	49093316	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46619686	C	T	18	49093316	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46619687	A	C	18	49093317	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.54304584892783E-6	0.004
18	46619687	A	G	18	49093317	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.54304584892783E-6	0.004
18	46619687	A	T	18	49093317	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.54304584892783E-6	0.004
18	46619688	G	A	18	49093318	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619688	G	C	18	49093318	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619688	G	T	18	49093318	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619689	C	A	18	49093319	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.35379928190213E-5	0.004
18	46619689	C	G	18	49093319	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.35379928190213E-5	0.0
18	46619689	C	T	18	49093319	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.42005417025298E-5	0.002
18	46619690	G	A	18	49093320	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.47800409892608E-4	0.042
18	46619690	G	C	18	49093320	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.56897963682662E-5	0.042
18	46619690	G	T	18	49093320	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.56897963682662E-5	0.036
18	46619691	T	A	18	49093321	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.58927937202005E-5	0.002
18	46619691	T	C	18	49093321	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619691	T	G	18	49093321	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46619692	T	A	18	49093322	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.51418391700966E-5	0.002
18	46619692	T	C	18	49093322	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.51418391700966E-5	0.002
18	46619692	T	G	18	49093322	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.51418391700966E-5	0.002
18	46619693	G	A	18	49093323	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.99153316237132E-5	0.0
18	46619693	G	C	18	49093323	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.99153316237132E-5	0.0
18	46619693	G	T	18	49093323	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.99153316237132E-5	0.0
18	46623764	C	A	18	49097394	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.36567682305367E-5	0.002
18	46623764	C	G	18	49097394	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.36567682305367E-5	0.002
18	46623764	C	T	18	49097394	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.36567682305367E-5	0.002
18	46623765	T	A	18	49097395	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.70317586460434E-5	0.0
18	46623765	T	C	18	49097395	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.70317586460434E-5	0.0
18	46623765	T	G	18	49097395	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.29069383983602E-5	0.0
18	46623766	T	A	18	49097396	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.68570019729299E-5	0.012
18	46623766	T	C	18	49097396	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.04261079701517E-4	0.004
18	46623766	T	G	18	49097396	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.04884183387706E-4	0.016
18	46623767	C	A	18	49097397	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.990276504647307	0.648
18	46623767	C	G	18	49097397	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.969449585772858	0.764
18	46623767	C	T	18	49097397	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999226371808034	0.738
18	46623768	T	A	18	49097398	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.113840483593717	0.244
18	46623768	T	C	18	49097398	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.168034496517724	0.228
18	46623768	T	G	18	49097398	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0513048960825733	0.196
18	46623769	T	A	18	49097399	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.992056023205377	0.9
18	46623769	T	C	18	49097399	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.830583921080257	0.5
18	46623769	T	G	18	49097399	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.996807019168696	0.962
18	46623770	A	C	18	49097400	y	y	splicing	DYM(NM_017653:exon17:c.1860+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1290+2T>G;ENST00000577734:exon2:c.92+2T>G;ENST00000269445:exon17:c.1860+2T>G)	.	.	0.999988247793601	0.928
18	46623770	A	G	18	49097400	y	y	splicing	DYM(NM_017653:exon17:c.1860+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1290+2T>C;ENST00000577734:exon2:c.92+2T>C;ENST00000269445:exon17:c.1860+2T>C)	.	.	0.99340600729494	0.644
18	46623770	A	T	18	49097400	y	y	splicing	DYM(NM_017653:exon17:c.1860+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1290+2T>A;ENST00000577734:exon2:c.92+2T>A;ENST00000269445:exon17:c.1860+2T>A)	.	.	0.999988247793601	0.928
18	46623771	C	A	18	49097401	y	y	splicing	DYM(NM_017653:exon17:c.1860+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1290+1G>T;ENST00000577734:exon2:c.92+1G>T;ENST00000269445:exon17:c.1860+1G>T)	.	.	0.999985532734767	0.936
18	46623771	C	G	18	49097401	y	y	splicing	DYM(NM_017653:exon17:c.1860+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1290+1G>C;ENST00000577734:exon2:c.92+1G>C;ENST00000269445:exon17:c.1860+1G>C)	.	.	0.999985532734767	0.936
18	46623771	C	T	18	49097401	y	y	splicing	DYM(NM_017653:exon17:c.1860+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1290+1G>A;ENST00000577734:exon2:c.92+1G>A;ENST00000269445:exon17:c.1860+1G>A)	.	.	0.999985532734767	0.936
18	46623772	C	A	18	49097402	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.G1860T:p.K620N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.G1290T:p.K430N;ENSG00000141627:ENST00000269445:exon16:c.G1860T:p.K620N;	0.993468715645055	0.944
18	46623772	C	G	18	49097402	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.G1860C:p.K620N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.G1290C:p.K430N;ENSG00000141627:ENST00000269445:exon16:c.G1860C:p.K620N;	0.995673595728745	0.8
18	46623772	C	T	18	49097402	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon16:c.G1860A:p.K620K;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.G1290A:p.K430K;ENSG00000141627:ENST00000269445:exon16:c.G1860A:p.K620K;	0.999569071388616	0.98
18	46623773	T	A	18	49097403	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.A1859T:p.K620M;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.A1289T:p.K430M;ENSG00000141627:ENST00000269445:exon16:c.A1859T:p.K620M;	0.828584583227051	0.558
18	46623773	T	C	18	49097403	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.A1859G:p.K620R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.A1289G:p.K430R;ENSG00000141627:ENST00000269445:exon16:c.A1859G:p.K620R;	0.973637637361888	0.772
18	46623773	T	G	18	49097403	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.A1859C:p.K620T;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.A1289C:p.K430T;ENSG00000141627:ENST00000269445:exon16:c.A1859C:p.K620T;	0.872518308976833	0.68
18	46623774	T	A	18	49097404	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon16:c.A1858T:p.K620X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000442713:exon11:c.A1288T:p.K430X;ENSG00000141627:ENST00000269445:exon16:c.A1858T:p.K620X;	0.94409036939744	0.606
18	46623774	T	C	18	49097404	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.A1858G:p.K620E;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.A1288G:p.K430E;ENSG00000141627:ENST00000269445:exon16:c.A1858G:p.K620E;	0.0967524978013484	0.342
18	46623774	T	G	18	49097404	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.A1858C:p.K620Q;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.A1288C:p.K430Q;ENSG00000141627:ENST00000269445:exon16:c.A1858C:p.K620Q;	0.135222230052197	0.374
18	46623884	A	C	18	49097514	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.T1748G:p.V583G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.T1178G:p.V393G;ENSG00000141627:ENST00000269445:exon16:c.T1748G:p.V583G;	0.844535623004041	0.554
18	46623884	A	G	18	49097514	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.T1748C:p.V583A;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.T1178C:p.V393A;ENSG00000141627:ENST00000269445:exon16:c.T1748C:p.V583A;	0.892784959085655	0.536
18	46623884	A	T	18	49097514	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.T1748A:p.V583E;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.T1178A:p.V393E;ENSG00000141627:ENST00000269445:exon16:c.T1748A:p.V583E;	0.889603862224436	0.544
18	46623885	C	A	18	49097515	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.G1747T:p.V583L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.G1177T:p.V393L;ENSG00000141627:ENST00000269445:exon16:c.G1747T:p.V583L;	0.999948768673915	0.994
18	46623885	C	G	18	49097515	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.G1747C:p.V583L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.G1177C:p.V393L;ENSG00000141627:ENST00000269445:exon16:c.G1747C:p.V583L;	0.999879665624504	0.984
18	46623885	C	T	18	49097515	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon16:c.G1747A:p.V583M;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon11:c.G1177A:p.V393M;ENSG00000141627:ENST00000269445:exon16:c.G1747A:p.V583M;	0.999603930068513	0.922
18	46623886	C	A	18	49097516	y	y	splicing	DYM(NM_017653:exon17:c.1747-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1177-1G>T;ENST00000269445:exon17:c.1747-1G>T)	.	.	0.999990361384395	0.924
18	46623886	C	G	18	49097516	y	y	splicing	DYM(NM_017653:exon17:c.1747-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1177-1G>C;ENST00000269445:exon17:c.1747-1G>C)	.	.	0.999990361384395	0.922
18	46623886	C	T	18	49097516	y	y	splicing	DYM(NM_017653:exon17:c.1747-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1177-1G>A;ENST00000269445:exon17:c.1747-1G>A)	.	.	0.999990361384395	0.924
18	46623887	T	A	18	49097517	y	y	splicing	DYM(NM_017653:exon17:c.1747-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1177-2A>T;ENST00000269445:exon17:c.1747-2A>T)	.	.	0.999988247793601	0.914
18	46623887	T	C	18	49097517	y	y	splicing	DYM(NM_017653:exon17:c.1747-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1177-2A>G;ENST00000269445:exon17:c.1747-2A>G)	.	.	0.999988247793601	0.914
18	46623887	T	G	18	49097517	y	y	splicing	DYM(NM_017653:exon17:c.1747-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon12:c.1177-2A>C;ENST00000269445:exon17:c.1747-2A>C)	.	.	0.999988247793601	0.914
18	46623888	G	A	18	49097518	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0478960265026899	0.086
18	46623888	G	C	18	49097518	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999894618506144	0.948
18	46623888	G	T	18	49097518	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999507660991691	0.83
18	46623889	T	A	18	49097519	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.13764672086771E-5	0.0
18	46623889	T	C	18	49097519	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.00275324159069E-4	0.074
18	46623889	T	G	18	49097519	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.97567277317375E-4	0.046
18	46623890	A	C	18	49097520	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997210219722481	0.872
18	46623890	A	G	18	49097520	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.609565500549868	0.488
18	46623890	A	T	18	49097520	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.998193559579424	0.92
18	46623891	A	C	18	49097521	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999953127650618	0.966
18	46623891	A	G	18	49097521	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0106191957476831	0.154
18	46623891	A	T	18	49097521	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.981791974715076	0.852
18	46623892	T	A	18	49097522	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.50366419728044E-5	0.0
18	46623892	T	C	18	49097522	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.42764968050347E-5	0.0
18	46623892	T	G	18	49097522	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.68683185759449E-5	0.0
18	46623893	G	A	18	49097523	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.1034168811138E-4	0.0
18	46623893	G	C	18	49097523	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999832537285472	0.966
18	46623893	G	T	18	49097523	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00512179054740607	0.096
18	46623894	T	A	18	49097524	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.59764379566218E-5	0.012
18	46623894	T	C	18	49097524	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.14056514434116E-5	0.0
18	46623894	T	G	18	49097524	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.96270121923905E-5	0.0
18	46623895	A	C	18	49097525	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0787321735527734	0.422
18	46623895	A	G	18	49097525	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.78273809936969E-4	0.12
18	46623895	A	T	18	49097525	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0199425031385158	0.5
18	46623896	A	C	18	49097526	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.44617588047236	0.52
18	46623896	A	G	18	49097526	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0566451982394917	0.304
18	46623896	A	T	18	49097526	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.9613602782108	0.592
18	46623897	A	C	18	49097527	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.210522947458613	0.332
18	46623897	A	G	18	49097527	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.54695614994317E-4	0.048
18	46623897	A	T	18	49097527	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0820743328953026	0.34
18	46645106	A	C	18	49118736	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	1.5684319684165E-4	0.0
18	46645106	A	G	18	49118736	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	1.03334260509943E-4	0.0
18	46645106	A	T	18	49118736	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	1.21236587427279E-4	0.002
18	46645107	C	A	18	49118737	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	8.11051055797707E-5	0.0
18	46645107	C	G	18	49118737	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	2.78958691012223E-5	0.0
18	46645107	C	T	18	49118737	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	2.78958691012223E-5	0.0
18	46645108	A	C	18	49118738	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0813246200600674	0.244
18	46645108	A	G	18	49118738	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.294150109665899	0.372
18	46645108	A	T	18	49118738	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.428745764244418	0.428
18	46645109	C	A	18	49118739	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.999901602012158	0.906
18	46645109	C	G	18	49118739	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.99997590896854	0.896
18	46645109	C	T	18	49118739	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.999895807066273	0.964
18	46645110	T	A	18	49118740	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.993199578436253	0.866
18	46645110	T	C	18	49118740	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.996532238772307	0.848
18	46645110	T	G	18	49118740	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.885260713230859	0.654
18	46645111	C	A	18	49118741	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0954785403797808	0.4
18	46645111	C	G	18	49118741	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0949371996246563	0.362
18	46645111	C	T	18	49118741	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	3.57385782925937E-5	0.08
18	46645112	A	C	18	49118742	y	y	splicing	DYM(NM_017653:exon16:c.1746+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.1176+2T>G;ENST00000269445:exon16:c.1746+2T>G)	.	.	0.999988247793601	0.926
18	46645112	A	G	18	49118742	y	y	splicing	DYM(NM_017653:exon16:c.1746+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.1176+2T>C;ENST00000269445:exon16:c.1746+2T>C)	.	.	0.999929727175276	0.868
18	46645112	A	T	18	49118742	y	y	splicing	DYM(NM_017653:exon16:c.1746+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.1176+2T>A;ENST00000269445:exon16:c.1746+2T>A)	.	.	0.999988247793601	0.928
18	46645113	C	A	18	49118743	y	y	splicing	DYM(NM_017653:exon16:c.1746+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.1176+1G>T;ENST00000269445:exon16:c.1746+1G>T)	.	.	0.999985532734767	0.936
18	46645113	C	G	18	49118743	y	y	splicing	DYM(NM_017653:exon16:c.1746+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.1176+1G>C;ENST00000269445:exon16:c.1746+1G>C)	.	.	0.999985532734767	0.936
18	46645113	C	T	18	49118743	y	y	splicing	DYM(NM_017653:exon16:c.1746+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.1176+1G>A;ENST00000269445:exon16:c.1746+1G>A)	.	.	0.999985532734767	0.936
18	46645114	C	A	18	49118744	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon15:c.G1746T:p.L582L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.G1176T:p.L392L;ENSG00000141627:ENST00000269445:exon15:c.G1746T:p.L582L;	0.98364889364961	0.85
18	46645114	C	G	18	49118744	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon15:c.G1746C:p.L582L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.G1176C:p.L392L;ENSG00000141627:ENST00000269445:exon15:c.G1746C:p.L582L;	0.998316080059074	0.78
18	46645114	C	T	18	49118744	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon15:c.G1746A:p.L582L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.G1176A:p.L392L;ENSG00000141627:ENST00000269445:exon15:c.G1746A:p.L582L;	0.993835422313404	0.888
18	46645115	A	C	18	49118745	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.T1745G:p.L582R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.T1175G:p.L392R;ENSG00000141627:ENST00000269445:exon15:c.T1745G:p.L582R;	0.961361399241145	0.9
18	46645115	A	G	18	49118745	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.T1745C:p.L582P;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.T1175C:p.L392P;ENSG00000141627:ENST00000269445:exon15:c.T1745C:p.L582P;	0.938988391048676	0.852
18	46645115	A	T	18	49118745	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.T1745A:p.L582Q;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.T1175A:p.L392Q;ENSG00000141627:ENST00000269445:exon15:c.T1745A:p.L582Q;	0.659776961249176	0.654
18	46645116	G	A	18	49118746	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon15:c.C1744T:p.L582L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.C1174T:p.L392L;ENSG00000141627:ENST00000269445:exon15:c.C1744T:p.L582L;	0.096083964918434	0.254
18	46645116	G	C	18	49118746	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.C1744G:p.L582V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.C1174G:p.L392V;ENSG00000141627:ENST00000269445:exon15:c.C1744G:p.L582V;	0.0047745107432956	0.242
18	46645116	G	T	18	49118746	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.C1744A:p.L582M;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.C1174A:p.L392M;ENSG00000141627:ENST00000269445:exon15:c.C1744A:p.L582M;	0.0021422250606904	0.16
18	46645295	G	A	18	49118925	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.C1565T:p.A522V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.C995T:p.A332V;ENSG00000141627:ENST00000269445:exon15:c.C1565T:p.A522V;	0.00198811421104911	0.06
18	46645295	G	C	18	49118925	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.C1565G:p.A522G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.C995G:p.A332G;ENSG00000141627:ENST00000269445:exon15:c.C1565G:p.A522G;	0.546582482603239	0.572
18	46645295	G	T	18	49118925	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.C1565A:p.A522E;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.C995A:p.A332E;ENSG00000141627:ENST00000269445:exon15:c.C1565A:p.A522E;	0.38237650948936	0.486
18	46645296	C	A	18	49118926	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.G1564T:p.A522S;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.G994T:p.A332S;ENSG00000141627:ENST00000269445:exon15:c.G1564T:p.A522S;	0.999961461746532	0.996
18	46645296	C	G	18	49118926	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.G1564C:p.A522P;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.G994C:p.A332P;ENSG00000141627:ENST00000269445:exon15:c.G1564C:p.A522P;	0.99994167741928	0.966
18	46645296	C	T	18	49118926	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon15:c.G1564A:p.A522T;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon10:c.G994A:p.A332T;ENSG00000141627:ENST00000269445:exon15:c.G1564A:p.A522T;	0.999204041076623	0.87
18	46645297	C	A	18	49118927	y	y	splicing	DYM(NM_017653:exon16:c.1564-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.994-1G>T;ENST00000269445:exon16:c.1564-1G>T)	.	.	0.999987886496584	0.948
18	46645297	C	G	18	49118927	y	y	splicing	DYM(NM_017653:exon16:c.1564-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.994-1G>C;ENST00000269445:exon16:c.1564-1G>C)	.	.	0.999987886496584	0.948
18	46645297	C	T	18	49118927	y	y	splicing	DYM(NM_017653:exon16:c.1564-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.994-1G>A;ENST00000269445:exon16:c.1564-1G>A)	.	.	0.999987886496584	0.948
18	46645298	T	A	18	49118928	y	y	splicing	DYM(NM_017653:exon16:c.1564-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.994-2A>T;ENST00000269445:exon16:c.1564-2A>T)	.	.	0.999986741007567	0.934
18	46645298	T	C	18	49118928	y	y	splicing	DYM(NM_017653:exon16:c.1564-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.994-2A>G;ENST00000269445:exon16:c.1564-2A>G)	.	.	0.999986741007567	0.942
18	46645298	T	G	18	49118928	y	y	splicing	DYM(NM_017653:exon16:c.1564-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon11:c.994-2A>C;ENST00000269445:exon16:c.1564-2A>C)	.	.	0.999986741007567	0.942
18	46645299	T	A	18	49118929	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	2.4437471435641E-5	0.0
18	46645299	T	C	18	49118929	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0844786878824218	0.302
18	46645299	T	G	18	49118929	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	6.36742499695797E-5	0.028
18	46645300	A	C	18	49118930	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.953040279017458	0.958
18	46645300	A	G	18	49118930	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	1.35503252091879E-5	0.0
18	46645300	A	T	18	49118930	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	4.28573417344976E-5	0.006
18	46645301	T	A	18	49118931	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	7.09905654818994E-5	0.04
18	46645301	T	C	18	49118931	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	3.37598686208797E-4	0.038
18	46645301	T	G	18	49118931	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	6.37660371023383E-5	0.022
18	46645302	A	C	18	49118932	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0571819901285509	0.232
18	46645302	A	G	18	49118932	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.00236358036370722	0.032
18	46645302	A	T	18	49118932	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.00451473737166247	0.104
18	46645303	G	A	18	49118933	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	3.51078492901734E-5	0.002
18	46645303	G	C	18	49118933	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.00881211933540873	0.11
18	46645303	G	T	18	49118933	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.00230554616844671	0.114
18	46645304	A	C	18	49118934	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0107286810561688	0.14
18	46645304	A	G	18	49118934	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	1.01766578674122E-4	0.082
18	46645304	A	T	18	49118934	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.00287692932226326	0.13
18	46645305	G	A	18	49118935	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.00557931398399282	0.08
18	46645305	G	C	18	49118935	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0632612777305363	0.206
18	46645305	G	T	18	49118935	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.226226658355785	0.284
18	46645306	A	C	18	49118936	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.04398108676962	0.254
18	46645306	A	G	18	49118936	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.00239257542003086	0.084
18	46645306	A	T	18	49118936	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0660796202801965	0.398
18	46645307	A	C	18	49118937	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.195120601139818	0.456
18	46645307	A	G	18	49118937	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.0853770750153143	0.218
18	46645307	A	T	18	49118937	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.443218951973498	0.544
18	46645308	A	C	18	49118938	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.953902493454227	0.51
18	46645308	A	G	18	49118938	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.366872093690228	0.316
18	46645308	A	T	18	49118938	y	y	intronic	DYM	.	.	ncRNA_intronic	ENSG00000265128	.	.	0.964490219421484	0.598
18	46690047	C	A	18	49163677	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.4218339531949E-4	0.03
18	46690047	C	G	18	49163677	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.4218339531949E-4	0.028
18	46690047	C	T	18	49163677	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.02084948039161E-4	0.034
18	46690048	T	A	18	49163678	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.397040945448628	0.472
18	46690048	T	C	18	49163678	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.240312482699875	0.492
18	46690048	T	G	18	49163678	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.240312482699875	0.494
18	46690049	A	C	18	49163679	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997003106783151	0.798
18	46690049	A	G	18	49163679	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.992418440102742	0.74
18	46690049	A	T	18	49163679	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997207835349466	0.758
18	46690050	C	A	18	49163680	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999969760364633	0.87
18	46690050	C	G	18	49163680	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99942977064339	0.986
18	46690050	C	T	18	49163680	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999976549570207	0.978
18	46690051	T	A	18	49163681	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999025940074481	0.832
18	46690051	T	C	18	49163681	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999780163881371	0.944
18	46690051	T	G	18	49163681	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999205327133046	0.938
18	46690052	T	A	18	49163682	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99974044223261	0.868
18	46690052	T	C	18	49163682	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0266550720801261	0.24
18	46690052	T	G	18	49163682	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999838630521938	0.926
18	46690053	A	C	18	49163683	y	y	splicing	DYM(NM_017653:exon15:c.1563+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.993+2T>G;ENST00000269445:exon15:c.1563+2T>G)	.	.	0.999988247793601	0.928
18	46690053	A	G	18	49163683	y	y	splicing	DYM(NM_017653:exon15:c.1563+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.993+2T>C;ENST00000269445:exon15:c.1563+2T>C)	.	.	0.994669226766359	0.68
18	46690053	A	T	18	49163683	y	y	splicing	DYM(NM_017653:exon15:c.1563+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.993+2T>A;ENST00000269445:exon15:c.1563+2T>A)	.	.	0.999988247793601	0.928
18	46690054	C	A	18	49163684	y	y	splicing	DYM(NM_017653:exon15:c.1563+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.993+1G>T;ENST00000269445:exon15:c.1563+1G>T)	.	.	0.999986675681007	0.934
18	46690054	C	G	18	49163684	y	y	splicing	DYM(NM_017653:exon15:c.1563+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.993+1G>C;ENST00000269445:exon15:c.1563+1G>C)	.	.	0.999986675681007	0.934
18	46690054	C	T	18	49163684	y	y	splicing	DYM(NM_017653:exon15:c.1563+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.993+1G>A;ENST00000269445:exon15:c.1563+1G>A)	.	.	0.999986675681007	0.934
18	46690055	A	C	18	49163685	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon14:c.T1563G:p.Y521X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000442713:exon9:c.T993G:p.Y331X;ENSG00000141627:ENST00000269445:exon14:c.T1563G:p.Y521X;	0.00318039637011386	0.506
18	46690055	A	G	18	49163685	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon14:c.T1563C:p.Y521Y;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T993C:p.Y331Y;ENSG00000141627:ENST00000269445:exon14:c.T1563C:p.Y521Y;	0.00437118710377766	0.146
18	46690055	A	T	18	49163685	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon14:c.T1563A:p.Y521X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000442713:exon9:c.T993A:p.Y331X;ENSG00000141627:ENST00000269445:exon14:c.T1563A:p.Y521X;	0.00647876572320288	0.446
18	46690056	T	A	18	49163686	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.A1562T:p.Y521F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.A992T:p.Y331F;ENSG00000141627:ENST00000269445:exon14:c.A1562T:p.Y521F;	0.995013631512528	0.872
18	46690056	T	C	18	49163686	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.A1562G:p.Y521C;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.A992G:p.Y331C;ENSG00000141627:ENST00000269445:exon14:c.A1562G:p.Y521C;	0.995957368368425	0.886
18	46690056	T	G	18	49163686	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.A1562C:p.Y521S;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.A992C:p.Y331S;ENSG00000141627:ENST00000269445:exon14:c.A1562C:p.Y521S;	0.996200508535734	0.932
18	46690057	A	C	18	49163687	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.T1561G:p.Y521D;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T991G:p.Y331D;ENSG00000141627:ENST00000269445:exon14:c.T1561G:p.Y521D;	0.76785128750346	0.65
18	46690057	A	G	18	49163687	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.T1561C:p.Y521H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T991C:p.Y331H;ENSG00000141627:ENST00000269445:exon14:c.T1561C:p.Y521H;	0.568368322894965	0.584
18	46690057	A	T	18	49163687	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.T1561A:p.Y521N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T991A:p.Y331N;ENSG00000141627:ENST00000269445:exon14:c.T1561A:p.Y521N;	0.596317862758168	0.576
18	46690156	A	C	18	49163786	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.T1462G:p.L488V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T892G:p.L298V;ENSG00000141627:ENST00000269445:exon14:c.T1462G:p.L488V;	0.509509259003182	0.452
18	46690156	A	G	18	49163786	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon14:c.T1462C:p.L488L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T892C:p.L298L;ENSG00000141627:ENST00000269445:exon14:c.T1462C:p.L488L;	0.171938264239029	0.262
18	46690156	A	T	18	49163786	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.T1462A:p.L488I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T892A:p.L298I;ENSG00000141627:ENST00000269445:exon14:c.T1462A:p.L488I;	0.611076633762535	0.494
18	46690157	A	C	18	49163787	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.T1461G:p.S487R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T891G:p.S297R;ENSG00000141627:ENST00000269445:exon14:c.T1461G:p.S487R;	4.29902865391947E-5	0.138
18	46690157	A	G	18	49163787	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon14:c.T1461C:p.S487S;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T891C:p.S297S;ENSG00000141627:ENST00000269445:exon14:c.T1461C:p.S487S;	2.45359992885532E-4	0.02
18	46690157	A	T	18	49163787	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon14:c.T1461A:p.S487R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon9:c.T891A:p.S297R;ENSG00000141627:ENST00000269445:exon14:c.T1461A:p.S487R;	2.82922486801985E-5	0.048
18	46690158	C	A	18	49163788	y	y	splicing	DYM(NM_017653:exon15:c.1461-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.891-1G>T;ENST00000269445:exon15:c.1461-1G>T;ENST00000582399:exon5:c.290-1G>T)	.	.	0.999990361384395	0.938
18	46690158	C	G	18	49163788	y	y	splicing	DYM(NM_017653:exon15:c.1461-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.891-1G>C;ENST00000269445:exon15:c.1461-1G>C;ENST00000582399:exon5:c.290-1G>C)	.	.	0.999990361384395	0.938
18	46690158	C	T	18	49163788	y	y	splicing	DYM(NM_017653:exon15:c.1461-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.891-1G>A;ENST00000269445:exon15:c.1461-1G>A;ENST00000582399:exon5:c.290-1G>A)	.	.	0.999990361384395	0.938
18	46690159	T	A	18	49163789	y	y	splicing	DYM(NM_017653:exon15:c.1461-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.891-2A>T;ENST00000269445:exon15:c.1461-2A>T;ENST00000582399:exon5:c.290-2A>T)	.	.	0.999988247793601	0.93
18	46690159	T	C	18	49163789	y	y	splicing	DYM(NM_017653:exon15:c.1461-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.891-2A>G;ENST00000269445:exon15:c.1461-2A>G;ENST00000582399:exon5:c.290-2A>G)	.	.	0.999988247793601	0.93
18	46690159	T	G	18	49163789	y	y	splicing	DYM(NM_017653:exon15:c.1461-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon10:c.891-2A>C;ENST00000269445:exon15:c.1461-2A>C;ENST00000582399:exon5:c.290-2A>C)	.	.	0.999988247793601	0.93
18	46690160	G	A	18	49163790	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0141804346288802	0.074
18	46690160	G	C	18	49163790	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999826969896546	0.952
18	46690160	G	T	18	49163790	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.568885743714102	0.614
18	46690161	G	A	18	49163791	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.06870501013307E-5	0.02
18	46690161	G	C	18	49163791	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.13249940599999E-5	0.014
18	46690161	G	T	18	49163791	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.13249940599999E-5	0.014
18	46690162	A	C	18	49163792	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.982046245322707	0.794
18	46690162	A	G	18	49163792	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0907695275796511	0.206
18	46690162	A	T	18	49163792	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.971026141204456	0.786
18	46690163	A	C	18	49163793	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.671132622950042	0.614
18	46690163	A	G	18	49163793	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.88151971471676E-4	0.01
18	46690163	A	T	18	49163793	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.550437444190293	0.632
18	46690164	A	C	18	49163794	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.149945127624413	0.266
18	46690164	A	G	18	49163794	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.56392492320885E-4	0.002
18	46690164	A	T	18	49163794	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.398805677168441	0.46
18	46690165	A	C	18	49163795	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00179270361492919	0.088
18	46690165	A	G	18	49163795	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.68134493480553E-5	0.0
18	46690165	A	T	18	49163795	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0160825815792215	0.062
18	46690166	A	C	18	49163796	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.533814283239576	0.56
18	46690166	A	G	18	49163796	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00244255684792907	0.022
18	46690166	A	T	18	49163796	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.670184618992078	0.512
18	46690167	C	A	18	49163797	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.31956886552054E-5	0.004
18	46690167	C	G	18	49163797	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.47726562455259E-6	0.014
18	46690167	C	T	18	49163797	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.775483362264E-4	0.01
18	46690168	A	C	18	49163798	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.373491418851009	0.372
18	46690168	A	G	18	49163798	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.58542607021027E-4	0.084
18	46690168	A	T	18	49163798	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999965883605584	0.9
18	46690169	A	C	18	49163799	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.760295117974276	0.56
18	46690169	A	G	18	49163799	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00577874077259384	0.074
18	46690169	A	T	18	49163799	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.79930775974207	0.594
18	46735913	T	A	18	49209543	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63221077055956E-4	0.002
18	46735913	T	C	18	49209543	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.65230034870006E-4	0.002
18	46735913	T	G	18	49209543	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.65230034870006E-4	0.002
18	46735914	T	A	18	49209544	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00134803424747343	0.092
18	46735914	T	C	18	49209544	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00134803424747343	0.022
18	46735914	T	G	18	49209544	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00134803424747343	0.032
18	46735915	A	C	18	49209545	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.17713428452202	0.428
18	46735915	A	G	18	49209545	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.17713428452202	0.424
18	46735915	A	T	18	49209545	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.302966714551653	0.494
18	46735916	A	C	18	49209546	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.17713428452202	0.424
18	46735916	A	G	18	49209546	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.17713428452202	0.424
18	46735916	A	T	18	49209546	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.17713428452202	0.476
18	46735917	T	A	18	49209547	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00188193736574348	0.09
18	46735917	T	C	18	49209547	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00188193736574348	0.02
18	46735917	T	G	18	49209547	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00188193736574348	0.022
18	46735918	A	C	18	49209548	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.34502669094326E-4	0.0
18	46735918	A	G	18	49209548	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.34502669094326E-4	0.0
18	46735918	A	T	18	49209548	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.21662807230942E-4	0.0
18	46735919	A	C	18	49209549	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.289+2T>G)	.	.	0.033277434898401	0.186
18	46735919	A	G	18	49209549	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.289+2T>C)	.	.	0.033277434898401	0.186
18	46735919	A	T	18	49209549	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.289+2T>A)	.	.	0.033277434898401	0.188
18	46735920	C	A	18	49209550	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.289+1G>T)	.	.	0.988841467419938	0.888
18	46735920	C	G	18	49209550	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.289+1G>C)	.	.	0.988841467419938	0.884
18	46735920	C	T	18	49209550	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.289+1G>A)	.	.	0.987577720948269	0.906
18	46735921	C	A	18	49209551	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.0429782707896189	0.178
18	46735921	C	G	18	49209551	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.0429782707896189	0.156
18	46735921	C	T	18	49209551	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.603159617650867	0.488
18	46735922	T	A	18	49209552	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.0238273648531443	0.076
18	46735922	T	C	18	49209552	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.0238273648531443	0.078
18	46735922	T	G	18	49209552	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.0238273648531443	0.086
18	46735923	G	A	18	49209553	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.737130333746383	0.642
18	46735923	G	C	18	49209553	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.603159617650867	0.492
18	46735923	G	T	18	49209553	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.603159617650867	0.49
18	46736084	A	C	18	49209714	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.0112686647575993	0.03
18	46736084	A	G	18	49209714	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.0208444505710132	0.03
18	46736084	A	T	18	49209714	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.0208444505710132	0.036
18	46736085	A	C	18	49209715	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.00252652705881934	0.0
18	46736085	A	G	18	49209715	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.00386570099128344	0.096
18	46736085	A	T	18	49209715	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	unknown	UNKNOWN	0.00261584664080144	0.0
18	46736086	C	A	18	49209716	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.125-1G>T)	.	.	0.386515187970821	0.532
18	46736086	C	G	18	49209716	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.125-1G>C)	.	.	0.386515187970821	0.542
18	46736086	C	T	18	49209716	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.125-1G>A)	.	.	0.386515187970821	0.512
18	46736087	T	A	18	49209717	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.125-2A>T)	.	.	0.0579370398021417	0.196
18	46736087	T	C	18	49209717	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.125-2A>G)	.	.	0.0579370398021417	0.224
18	46736087	T	G	18	49209717	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000582399:exon4:c.125-2A>C)	.	.	0.0579370398021417	0.218
18	46736088	G	A	18	49209718	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00624362770938053	0.144
18	46736088	G	C	18	49209718	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00459370538588596	0.132
18	46736088	G	T	18	49209718	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00624362770938053	0.14
18	46736089	A	C	18	49209719	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0336418601951212	0.148
18	46736089	A	G	18	49209719	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0336418601951212	0.148
18	46736089	A	T	18	49209719	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0865086493260547	0.228
18	46736090	A	C	18	49209720	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0865086493260547	0.364
18	46736090	A	G	18	49209720	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0865086493260547	0.352
18	46736090	A	T	18	49209720	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.203566710093563	0.414
18	46736091	A	C	18	49209721	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00236669399226255	0.0
18	46736091	A	G	18	49209721	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00236669399226255	0.0
18	46736091	A	T	18	49209721	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0025178241402809	0.01
18	46736092	G	A	18	49209722	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.44949348919375	0.3
18	46736092	G	C	18	49209722	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0434756090786985	0.172
18	46736092	G	T	18	49209722	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0431604373569922	0.224
18	46736093	A	C	18	49209723	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0865086493260547	0.358
18	46736093	A	G	18	49209723	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0865086493260547	0.352
18	46736093	A	T	18	49209723	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.203566710093563	0.418
18	46736094	C	A	18	49209724	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.105474712110372	0.452
18	46736094	C	G	18	49209724	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.105474712110372	0.452
18	46736094	C	T	18	49209724	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.105474712110372	0.452
18	46736095	A	C	18	49209725	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.870570119176771	0.808
18	46736095	A	G	18	49209725	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.870570119176771	0.808
18	46736095	A	T	18	49209725	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.870570119176771	0.81
18	46736096	A	C	18	49209726	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.870570119176771	0.808
18	46736096	A	G	18	49209726	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.870570119176771	0.808
18	46736096	A	T	18	49209726	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.870570119176771	0.81
18	46736097	A	C	18	49209727	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0017755208230738	0.24
18	46736097	A	G	18	49209727	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0017755208230738	0.24
18	46736097	A	T	18	49209727	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0017755208230738	0.236
18	46783372	A	C	18	49257002	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.73177220092583E-5	0.0
18	46783372	A	G	18	49257002	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.70079443298941E-5	0.012
18	46783372	A	T	18	49257002	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.69636669461696E-5	0.0
18	46783373	T	A	18	49257003	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.95046650590863E-5	0.002
18	46783373	T	C	18	49257003	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.79688719901285E-5	0.002
18	46783373	T	G	18	49257003	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.27148081440782E-4	0.002
18	46783374	A	C	18	49257004	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.96595381025438E-4	0.09
18	46783374	A	G	18	49257004	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00377274881463627	0.092
18	46783374	A	T	18	49257004	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00293725573713087	0.1
18	46783375	T	A	18	49257005	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.7887032470817E-5	0.006
18	46783375	T	C	18	49257005	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.64524728159188E-5	0.002
18	46783375	T	G	18	49257005	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.04306306062103E-4	0.02
18	46783376	T	A	18	49257006	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.992325188090661	0.732
18	46783376	T	C	18	49257006	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.9680317091981	0.666
18	46783376	T	G	18	49257006	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.951451415472612	0.71
18	46783377	T	A	18	49257007	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999506743580241	0.892
18	46783377	T	C	18	49257007	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.969534051933431	0.702
18	46783377	T	G	18	49257007	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.9993448862535	0.93
18	46783378	A	C	18	49257008	y	y	splicing	DYM(NM_017653:exon14:c.1460+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.890+2T>G;ENST00000269445:exon14:c.1460+2T>G;ENST00000582399:exon3:c.124+2T>G)	.	.	0.999989917668626	0.928
18	46783378	A	G	18	49257008	y	y	splicing	DYM(NM_017653:exon14:c.1460+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.890+2T>C;ENST00000269445:exon14:c.1460+2T>C;ENST00000582399:exon3:c.124+2T>C)	.	.	0.993179459523591	0.636
18	46783378	A	T	18	49257008	y	y	splicing	DYM(NM_017653:exon14:c.1460+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.890+2T>A;ENST00000269445:exon14:c.1460+2T>A;ENST00000582399:exon3:c.124+2T>A)	.	.	0.999989917668626	0.928
18	46783379	C	A	18	49257009	y	y	splicing	DYM(NM_017653:exon14:c.1460+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.890+1G>T;ENST00000269445:exon14:c.1460+1G>T;ENST00000582399:exon3:c.124+1G>T)	.	.	0.999981760802075	0.944
18	46783379	C	G	18	49257009	y	y	splicing	DYM(NM_017653:exon14:c.1460+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.890+1G>C;ENST00000269445:exon14:c.1460+1G>C;ENST00000582399:exon3:c.124+1G>C)	.	.	0.999981760802075	0.944
18	46783379	C	T	18	49257009	y	y	splicing	DYM(NM_017653:exon14:c.1460+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.890+1G>A;ENST00000269445:exon14:c.1460+1G>A;ENST00000582399:exon3:c.124+1G>A)	.	.	0.999981760802075	0.944
18	46783380	C	A	18	49257010	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.G1460T:p.S487I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.G890T:p.S297I;ENSG00000141627:ENST00000269445:exon13:c.G1460T:p.S487I;	0.999919510423213	0.958
18	46783380	C	G	18	49257010	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.G1460C:p.S487T;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.G890C:p.S297T;ENSG00000141627:ENST00000269445:exon13:c.G1460C:p.S487T;	0.999997184881128	0.998
18	46783380	C	T	18	49257010	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.G1460A:p.S487N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.G890A:p.S297N;ENSG00000141627:ENST00000269445:exon13:c.G1460A:p.S487N;	0.999944174782621	0.988
18	46783381	T	A	18	49257011	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.A1459T:p.S487C;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.A889T:p.S297C;ENSG00000141627:ENST00000269445:exon13:c.A1459T:p.S487C;	0.99895206354338	0.94
18	46783381	T	C	18	49257011	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.A1459G:p.S487G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.A889G:p.S297G;ENSG00000141627:ENST00000269445:exon13:c.A1459G:p.S487G;	0.998277708456436	0.91
18	46783381	T	G	18	49257011	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.A1459C:p.S487R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.A889C:p.S297R;ENSG00000141627:ENST00000269445:exon13:c.A1459C:p.S487R;	0.996390844505966	0.908
18	46783382	G	A	18	49257012	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon13:c.C1458T:p.I486I;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.C888T:p.I296I;ENSG00000141627:ENST00000269445:exon13:c.C1458T:p.I486I;	0.0321534002577946	0.416
18	46783382	G	C	18	49257012	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.C1458G:p.I486M;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.C888G:p.I296M;ENSG00000141627:ENST00000269445:exon13:c.C1458G:p.I486M;	0.00216083846967854	0.04
18	46783382	G	T	18	49257012	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon13:c.C1458A:p.I486I;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.C888A:p.I296I;ENSG00000141627:ENST00000269445:exon13:c.C1458A:p.I486I;	1.45463528062315E-4	0.06
18	46783473	T	A	18	49257103	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.A1367T:p.D456V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.A797T:p.D266V;ENSG00000141627:ENST00000269445:exon13:c.A1367T:p.D456V;	0.818168820747486	0.834
18	46783473	T	C	18	49257103	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.A1367G:p.D456G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.A797G:p.D266G;ENSG00000141627:ENST00000269445:exon13:c.A1367G:p.D456G;	0.828759191125462	0.844
18	46783473	T	G	18	49257103	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.A1367C:p.D456A;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.A797C:p.D266A;ENSG00000141627:ENST00000269445:exon13:c.A1367C:p.D456A;	0.9228756199649	0.894
18	46783474	C	A	18	49257104	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.G1366T:p.D456Y;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.G796T:p.D266Y;ENSG00000141627:ENST00000269445:exon13:c.G1366T:p.D456Y;	0.99984821835757	0.988
18	46783474	C	G	18	49257104	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.G1366C:p.D456H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.G796C:p.D266H;ENSG00000141627:ENST00000269445:exon13:c.G1366C:p.D456H;	0.999748875491274	0.988
18	46783474	C	T	18	49257104	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon13:c.G1366A:p.D456N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon8:c.G796A:p.D266N;ENSG00000141627:ENST00000269445:exon13:c.G1366A:p.D456N;	0.997962444840297	0.854
18	46783475	C	A	18	49257105	y	y	splicing	DYM(NM_017653:exon14:c.1366-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.796-1G>T;ENST00000269445:exon14:c.1366-1G>T;ENST00000582399:exon3:c.30-1G>T)	.	.	0.999981760802075	0.944
18	46783475	C	G	18	49257105	y	y	splicing	DYM(NM_017653:exon14:c.1366-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.796-1G>C;ENST00000269445:exon14:c.1366-1G>C;ENST00000582399:exon3:c.30-1G>C)	.	.	0.999981760802075	0.944
18	46783475	C	T	18	49257105	y	y	splicing	DYM(NM_017653:exon14:c.1366-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.796-1G>A;ENST00000269445:exon14:c.1366-1G>A;ENST00000582399:exon3:c.30-1G>A)	.	.	0.999981760802075	0.944
18	46783476	T	A	18	49257106	y	y	splicing	DYM(NM_017653:exon14:c.1366-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.796-2A>T;ENST00000269445:exon14:c.1366-2A>T;ENST00000582399:exon3:c.30-2A>T)	.	.	0.999989917668626	0.928
18	46783476	T	C	18	49257106	y	y	splicing	DYM(NM_017653:exon14:c.1366-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.796-2A>G;ENST00000269445:exon14:c.1366-2A>G;ENST00000582399:exon3:c.30-2A>G)	.	.	0.999989917668626	0.928
18	46783476	T	G	18	49257106	y	y	splicing	DYM(NM_017653:exon14:c.1366-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon9:c.796-2A>C;ENST00000269445:exon14:c.1366-2A>C;ENST00000582399:exon3:c.30-2A>C)	.	.	0.999989917668626	0.928
18	46783477	G	A	18	49257107	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.144930867324363	0.11
18	46783477	G	C	18	49257107	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99990349190908	0.936
18	46783477	G	T	18	49257107	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.996881859525401	0.868
18	46783478	T	A	18	49257108	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.91063283911121E-4	0.008
18	46783478	T	C	18	49257108	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.19261963962976E-4	0.004
18	46783478	T	G	18	49257108	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.1219413159339E-5	0.002
18	46783479	G	A	18	49257109	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.49914628115587E-5	0.002
18	46783479	G	C	18	49257109	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.89791662874283E-4	0.036
18	46783479	G	T	18	49257109	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.1584962596489E-4	0.046
18	46783480	A	C	18	49257110	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00438105403275137	0.102
18	46783480	A	G	18	49257110	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.02507500654873E-4	0.008
18	46783480	A	T	18	49257110	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00486137151193557	0.042
18	46783481	G	A	18	49257111	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.6922134427221E-4	0.002
18	46783481	G	C	18	49257111	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00143971684475431	0.086
18	46783481	G	T	18	49257111	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00361483790229816	0.12
18	46783482	G	A	18	49257112	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63920030788375E-5	0.0
18	46783482	G	C	18	49257112	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.59637759712537E-4	0.026
18	46783482	G	T	18	49257112	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00262046758078917	0.088
18	46783483	A	C	18	49257113	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00323934728789096	0.082
18	46783483	A	G	18	49257113	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.1873177928464E-4	0.016
18	46783483	A	T	18	49257113	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00445584505711696	0.078
18	46783484	A	C	18	49257114	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.34236148078506E-5	0.092
18	46783484	A	G	18	49257114	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.95867653548918E-5	0.0
18	46783484	A	T	18	49257114	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00202835363700538	0.124
18	46783485	A	C	18	49257115	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00447726157579395	0.132
18	46783485	A	G	18	49257115	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.09445587482135E-4	0.068
18	46783485	A	T	18	49257115	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00174612912182682	0.092
18	46783486	C	A	18	49257116	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.74576677836749E-5	0.002
18	46783486	C	G	18	49257116	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.05865609216242E-4	0.002
18	46783486	C	T	18	49257116	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.43512729610694E-4	0.012
18	46784742	A	C	18	49258372	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.53502246899814E-4	0.0
18	46784742	A	G	18	49258372	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00341010400123306	0.014
18	46784742	A	T	18	49258372	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00102075531727713	0.0
18	46784743	T	A	18	49258373	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0539299881311E-4	0.002
18	46784743	T	C	18	49258373	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.30534990423361E-4	0.008
18	46784743	T	G	18	49258373	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.58890541353896E-4	0.004
18	46784744	A	C	18	49258374	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.985614564813961	0.84
18	46784744	A	G	18	49258374	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.959148356024729	0.784
18	46784744	A	T	18	49258374	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.98955364504324	0.734
18	46784745	C	A	18	49258375	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999970835296274	0.908
18	46784745	C	G	18	49258375	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.9999645109509	0.998
18	46784745	C	T	18	49258375	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999972639806087	0.992
18	46784746	T	A	18	49258376	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.996480049600102	0.888
18	46784746	T	C	18	49258376	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.995718854447261	0.92
18	46784746	T	G	18	49258376	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.988129285650206	0.836
18	46784747	T	A	18	49258377	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999844925894193	0.962
18	46784747	T	C	18	49258377	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.14671773219244	0.276
18	46784747	T	G	18	49258377	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999862666128586	0.916
18	46784748	A	C	18	49258378	y	y	splicing	DYM(NM_017653:exon13:c.1365+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.795+2T>G;ENST00000269445:exon13:c.1365+2T>G;ENST00000582399:exon2:c.29+2T>G)	.	.	0.999988247793601	0.926
18	46784748	A	G	18	49258378	y	y	splicing	DYM(NM_017653:exon13:c.1365+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.795+2T>C;ENST00000269445:exon13:c.1365+2T>C;ENST00000582399:exon2:c.29+2T>C)	.	.	0.993998724689378	0.628
18	46784748	A	T	18	49258378	y	y	splicing	DYM(NM_017653:exon13:c.1365+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.795+2T>A;ENST00000269445:exon13:c.1365+2T>A;ENST00000582399:exon2:c.29+2T>A)	.	.	0.999988247793601	0.926
18	46784749	C	A	18	49258379	y	y	splicing	DYM(NM_017653:exon13:c.1365+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.795+1G>T;ENST00000269445:exon13:c.1365+1G>T;ENST00000582399:exon2:c.29+1G>T)	.	.	0.999986675681007	0.93
18	46784749	C	G	18	49258379	y	y	splicing	DYM(NM_017653:exon13:c.1365+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.795+1G>C;ENST00000269445:exon13:c.1365+1G>C;ENST00000582399:exon2:c.29+1G>C)	.	.	0.999986675681007	0.93
18	46784749	C	T	18	49258379	y	y	splicing	DYM(NM_017653:exon13:c.1365+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.795+1G>A;ENST00000269445:exon13:c.1365+1G>A;ENST00000582399:exon2:c.29+1G>A)	.	.	0.999986675681007	0.93
18	46784750	T	A	18	49258380	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon12:c.A1365T:p.R455R;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.A795T:p.R265R;ENSG00000141627:ENST00000269445:exon12:c.A1365T:p.R455R;	0.00371487945595116	0.094
18	46784750	T	C	18	49258380	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon12:c.A1365G:p.R455R;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.A795G:p.R265R;ENSG00000141627:ENST00000269445:exon12:c.A1365G:p.R455R;	1.66792367019608E-4	0.072
18	46784750	T	G	18	49258380	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon12:c.A1365C:p.R455R;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.A795C:p.R265R;ENSG00000141627:ENST00000269445:exon12:c.A1365C:p.R455R;	0.00212849251611804	0.026
18	46784751	C	A	18	49258381	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.G1364T:p.R455L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.G794T:p.R265L;ENSG00000141627:ENST00000269445:exon12:c.G1364T:p.R455L;	0.990524590676005	0.87
18	46784751	C	G	18	49258381	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.G1364C:p.R455P;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.G794C:p.R265P;ENSG00000141627:ENST00000269445:exon12:c.G1364C:p.R455P;	0.987475408364733	0.86
18	46784751	C	T	18	49258381	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.G1364A:p.R455Q;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.G794A:p.R265Q;ENSG00000141627:ENST00000269445:exon12:c.G1364A:p.R455Q;	0.964935252921681	0.694
18	46784752	G	A	18	49258382	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon12:c.C1363T:p.R455X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000442713:exon7:c.C793T:p.R265X;ENSG00000141627:ENST00000269445:exon12:c.C1363T:p.R455X;	0.0194498103562993	0.314
18	46784752	G	C	18	49258382	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.C1363G:p.R455G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.C793G:p.R265G;ENSG00000141627:ENST00000269445:exon12:c.C1363G:p.R455G;	1.35797710016305E-5	0.05
18	46784752	G	T	18	49258382	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon12:c.C1363A:p.R455R;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.C793A:p.R265R;ENSG00000141627:ENST00000269445:exon12:c.C1363A:p.R455R;	1.89395092891155E-4	0.018
18	46784862	A	C	18	49258492	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.T1253G:p.I418R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.T683G:p.I228R;ENSG00000141627:ENST00000269445:exon12:c.T1253G:p.I418R;	0.364285602466979	0.462
18	46784862	A	G	18	49258492	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.T1253C:p.I418T;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.T683C:p.I228T;ENSG00000141627:ENST00000269445:exon12:c.T1253C:p.I418T;	0.321913437394654	0.318
18	46784862	A	T	18	49258492	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.T1253A:p.I418K;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.T683A:p.I228K;ENSG00000141627:ENST00000269445:exon12:c.T1253A:p.I418K;	0.254873462639195	0.508
18	46784863	T	A	18	49258493	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.A1252T:p.I418L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.A682T:p.I228L;ENSG00000141627:ENST00000269445:exon12:c.A1252T:p.I418L;	0.0120997003386329	0.144
18	46784863	T	C	18	49258493	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.A1252G:p.I418V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.A682G:p.I228V;ENSG00000141627:ENST00000269445:exon12:c.A1252G:p.I418V;	5.37864039796391E-4	0.014
18	46784863	T	G	18	49258493	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon12:c.A1252C:p.I418L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon7:c.A682C:p.I228L;ENSG00000141627:ENST00000269445:exon12:c.A1252C:p.I418L;	0.00635697949479942	0.098
18	46784864	C	A	18	49258494	y	y	splicing	DYM(NM_017653:exon13:c.1252-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.682-1G>T;ENST00000269445:exon13:c.1252-1G>T)	.	.	0.999986675681007	0.93
18	46784864	C	G	18	49258494	y	y	splicing	DYM(NM_017653:exon13:c.1252-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.682-1G>C;ENST00000269445:exon13:c.1252-1G>C)	.	.	0.999986675681007	0.93
18	46784864	C	T	18	49258494	y	y	splicing	DYM(NM_017653:exon13:c.1252-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.682-1G>A;ENST00000269445:exon13:c.1252-1G>A)	.	.	0.999986675681007	0.93
18	46784865	T	A	18	49258495	y	y	splicing	DYM(NM_017653:exon13:c.1252-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.682-2A>T;ENST00000269445:exon13:c.1252-2A>T)	.	.	0.999993519952936	0.928
18	46784865	T	C	18	49258495	y	y	splicing	DYM(NM_017653:exon13:c.1252-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.682-2A>G;ENST00000269445:exon13:c.1252-2A>G)	.	.	0.999993519952936	0.928
18	46784865	T	G	18	49258495	y	y	splicing	DYM(NM_017653:exon13:c.1252-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon8:c.682-2A>C;ENST00000269445:exon13:c.1252-2A>C)	.	.	0.999993519952936	0.928
18	46784866	G	A	18	49258496	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0306420276333928	0.09
18	46784866	G	C	18	49258496	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999897552207482	0.978
18	46784866	G	T	18	49258496	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.985471287085474	0.766
18	46784867	T	A	18	49258497	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.2637844311259E-4	0.018
18	46784867	T	C	18	49258497	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.32440129133348E-5	0.014
18	46784867	T	G	18	49258497	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.74592979062127E-4	0.006
18	46784868	A	C	18	49258498	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.3296920839906	0.402
18	46784868	A	G	18	49258498	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00619007595003958	0.04
18	46784868	A	T	18	49258498	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.227037304661679	0.43
18	46784869	A	C	18	49258499	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99976439142	0.94
18	46784869	A	G	18	49258499	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.81226432396379E-4	0.022
18	46784869	A	T	18	49258499	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.263113310097543	0.188
18	46784870	T	A	18	49258500	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.86251695892983E-6	0.0
18	46784870	T	C	18	49258500	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.72944401467774E-5	0.002
18	46784870	T	G	18	49258500	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.08168471561102E-5	0.002
18	46784871	G	A	18	49258501	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.56924205420012E-5	0.002
18	46784871	G	C	18	49258501	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.38836818777262E-4	0.056
18	46784871	G	T	18	49258501	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.77302233375131E-4	0.054
18	46784872	G	A	18	49258502	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.81057732670843E-5	0.0
18	46784872	G	C	18	49258502	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00145390353303255	0.092
18	46784872	G	T	18	49258502	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00323414609449357	0.092
18	46784873	G	A	18	49258503	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.18075204392963E-4	0.004
18	46784873	G	C	18	49258503	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00215762284876188	0.112
18	46784873	G	T	18	49258503	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00320495180234094	0.106
18	46784874	G	A	18	49258504	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.98746318845329E-4	0.008
18	46784874	G	C	18	49258504	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00213411041290421	0.044
18	46784874	G	T	18	49258504	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00657854699411986	0.164
18	46784875	A	C	18	49258505	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0204982345043507	0.272
18	46784875	A	G	18	49258505	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.77235799717992E-4	0.002
18	46784875	A	T	18	49258505	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0210811947324957	0.23
18	46798540	T	A	18	49272170	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.70337218186484E-5	0.0
18	46798540	T	C	18	49272170	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.66721712464991E-6	0.002
18	46798540	T	G	18	49272170	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.06341561599038E-6	0.0
18	46798541	A	C	18	49272171	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.05709447462961E-5	0.0
18	46798541	A	G	18	49272171	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.95815540499835E-5	0.0
18	46798541	A	T	18	49272171	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.07014835428848E-5	0.004
18	46798542	A	C	18	49272172	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00807760331784417	0.328
18	46798542	A	G	18	49272172	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0483367438583924	0.494
18	46798542	A	T	18	49272172	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.159800366999659	0.406
18	46798543	C	A	18	49272173	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.995782740913423	0.874
18	46798543	C	G	18	49272173	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.991589389622961	0.862
18	46798543	C	T	18	49272173	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997246968599046	0.948
18	46798544	T	A	18	49272174	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.995479734929371	0.856
18	46798544	T	C	18	49272174	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.996238557968121	0.862
18	46798544	T	G	18	49272174	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.994579595160723	0.834
18	46798545	T	A	18	49272175	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.994718356458199	0.752
18	46798545	T	C	18	49272175	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00245281505567363	0.086
18	46798545	T	G	18	49272175	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.995283625800261	0.826
18	46798546	A	C	18	49272176	y	y	splicing	DYM(NM_017653:exon12:c.1251+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.681+2T>G;ENST00000269445:exon12:c.1251+2T>G)	.	.	0.999989917668626	0.928
18	46798546	A	G	18	49272176	y	y	splicing	DYM(NM_017653:exon12:c.1251+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.681+2T>C;ENST00000269445:exon12:c.1251+2T>C)	.	.	0.994485838132979	0.65
18	46798546	A	T	18	49272176	y	y	splicing	DYM(NM_017653:exon12:c.1251+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.681+2T>A;ENST00000269445:exon12:c.1251+2T>A)	.	.	0.999989917668626	0.928
18	46798547	C	A	18	49272177	y	y	splicing	DYM(NM_017653:exon12:c.1251+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.681+1G>T;ENST00000269445:exon12:c.1251+1G>T)	.	.	0.99999160924781	0.932
18	46798547	C	G	18	49272177	y	y	splicing	DYM(NM_017653:exon12:c.1251+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.681+1G>C;ENST00000269445:exon12:c.1251+1G>C)	.	.	0.99999160924781	0.932
18	46798547	C	T	18	49272177	y	y	splicing	DYM(NM_017653:exon12:c.1251+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.681+1G>A;ENST00000269445:exon12:c.1251+1G>A)	.	.	0.99999160924781	0.932
18	46798548	C	A	18	49272178	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon11:c.G1251T:p.V417V;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G681T:p.V227V;ENSG00000141627:ENST00000269445:exon11:c.G1251T:p.V417V;	0.999221707079188	0.956
18	46798548	C	G	18	49272178	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon11:c.G1251C:p.V417V;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G681C:p.V227V;ENSG00000141627:ENST00000269445:exon11:c.G1251C:p.V417V;	0.999375613891629	0.944
18	46798548	C	T	18	49272178	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon11:c.G1251A:p.V417V;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G681A:p.V227V;ENSG00000141627:ENST00000269445:exon11:c.G1251A:p.V417V;	0.999702363065315	0.986
18	46798549	A	C	18	49272179	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.T1250G:p.V417G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.T680G:p.V227G;ENSG00000141627:ENST00000269445:exon11:c.T1250G:p.V417G;	0.537478916980315	0.802
18	46798549	A	G	18	49272179	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.T1250C:p.V417A;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.T680C:p.V227A;ENSG00000141627:ENST00000269445:exon11:c.T1250C:p.V417A;	0.88465796534936	0.84
18	46798549	A	T	18	49272179	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.T1250A:p.V417E;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.T680A:p.V227E;ENSG00000141627:ENST00000269445:exon11:c.T1250A:p.V417E;	0.520673149850967	0.622
18	46798550	C	A	18	49272180	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.G1249T:p.V417L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G679T:p.V227L;ENSG00000141627:ENST00000269445:exon11:c.G1249T:p.V417L;	0.976623925228468	0.804
18	46798550	C	G	18	49272180	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.G1249C:p.V417L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G679C:p.V227L;ENSG00000141627:ENST00000269445:exon11:c.G1249C:p.V417L;	0.929066619171166	0.752
18	46798550	C	T	18	49272180	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.G1249A:p.V417M;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G679A:p.V227M;ENSG00000141627:ENST00000269445:exon11:c.G1249A:p.V417M;	0.929066619171166	0.778
18	46798672	A	C	18	49272302	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.T1127G:p.V376G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.T557G:p.V186G;ENSG00000141627:ENST00000269445:exon11:c.T1127G:p.V376G;	0.0851696610124692	0.45
18	46798672	A	G	18	49272302	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.T1127C:p.V376A;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.T557C:p.V186A;ENSG00000141627:ENST00000269445:exon11:c.T1127C:p.V376A;	0.0745968695537785	0.496
18	46798672	A	T	18	49272302	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.T1127A:p.V376D;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.T557A:p.V186D;ENSG00000141627:ENST00000269445:exon11:c.T1127A:p.V376D;	0.122913095565544	0.502
18	46798673	C	A	18	49272303	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.G1126T:p.V376F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G556T:p.V186F;ENSG00000141627:ENST00000269445:exon11:c.G1126T:p.V376F;	0.999744487611118	0.994
18	46798673	C	G	18	49272303	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.G1126C:p.V376L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G556C:p.V186L;ENSG00000141627:ENST00000269445:exon11:c.G1126C:p.V376L;	0.999394879972055	0.97
18	46798673	C	T	18	49272303	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon11:c.G1126A:p.V376I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon6:c.G556A:p.V186I;ENSG00000141627:ENST00000269445:exon11:c.G1126A:p.V376I;	0.992936733548226	0.9
18	46798674	C	A	18	49272304	y	y	splicing	DYM(NM_017653:exon12:c.1126-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.556-1G>T;ENST00000269445:exon12:c.1126-1G>T)	.	.	0.999986675681007	0.936
18	46798674	C	G	18	49272304	y	y	splicing	DYM(NM_017653:exon12:c.1126-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.556-1G>C;ENST00000269445:exon12:c.1126-1G>C)	.	.	0.999986675681007	0.936
18	46798674	C	T	18	49272304	y	y	splicing	DYM(NM_017653:exon12:c.1126-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.556-1G>A;ENST00000269445:exon12:c.1126-1G>A)	.	.	0.999986675681007	0.936
18	46798675	T	A	18	49272305	y	y	splicing	DYM(NM_017653:exon12:c.1126-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.556-2A>T;ENST00000269445:exon12:c.1126-2A>T)	.	.	0.999989917668626	0.928
18	46798675	T	C	18	49272305	y	y	splicing	DYM(NM_017653:exon12:c.1126-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.556-2A>G;ENST00000269445:exon12:c.1126-2A>G)	.	.	0.999989917668626	0.928
18	46798675	T	G	18	49272305	y	y	splicing	DYM(NM_017653:exon12:c.1126-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon7:c.556-2A>C;ENST00000269445:exon12:c.1126-2A>C)	.	.	0.999989917668626	0.928
18	46798676	A	C	18	49272306	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.960478771679448	0.602
18	46798676	A	G	18	49272306	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.50279912460018E-5	0.01
18	46798676	A	T	18	49272306	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0589237590521311	0.316
18	46798677	G	A	18	49272307	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.09838988005945E-5	0.0
18	46798677	G	C	18	49272307	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.29552293740105E-5	0.002
18	46798677	G	T	18	49272307	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.45365829713412E-5	0.008
18	46798678	A	C	18	49272308	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.96868955198536E-4	0.084
18	46798678	A	G	18	49272308	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.44476783637813E-5	0.002
18	46798678	A	T	18	49272308	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.66554263560409E-4	0.06
18	46798679	G	A	18	49272309	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.49304790820227E-5	0.0
18	46798679	G	C	18	49272309	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.98816805404865E-4	0.064
18	46798679	G	T	18	49272309	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.42925263658215E-4	0.054
18	46798680	A	C	18	49272310	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00226920659826865	0.094
18	46798680	A	G	18	49272310	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.211595743484E-4	0.004
18	46798680	A	T	18	49272310	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0030658977939586	0.036
18	46798681	A	C	18	49272311	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999805862745246	0.984
18	46798681	A	G	18	49272311	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.82582495152193E-4	0.016
18	46798681	A	T	18	49272311	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0050618466834981	0.166
18	46798682	T	A	18	49272312	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0532918505869615	0.448
18	46798682	T	C	18	49272312	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0669935491199554	0.398
18	46798682	T	G	18	49272312	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0154144157194472	0.368
18	46798683	A	C	18	49272313	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00645627672070635	0.102
18	46798683	A	G	18	49272313	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.82501502733063E-4	0.06
18	46798683	A	T	18	49272313	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.94225542560191E-4	0.112
18	46798684	A	C	18	49272314	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.83404755136974E-5	0.166
18	46798684	A	G	18	49272314	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.71361859381399E-5	0.088
18	46798684	A	T	18	49272314	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.27661527779808E-4	0.184
18	46798685	A	C	18	49272315	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.2613591154568E-4	0.118
18	46798685	A	G	18	49272315	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.88272352316194E-5	0.064
18	46798685	A	T	18	49272315	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.31208361979647E-5	0.174
18	46808359	A	C	18	49281989	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.2021363113634E-4	0.012
18	46808359	A	G	18	49281989	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.37025556711352E-4	0.006
18	46808359	A	T	18	49281989	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.93262842817204E-4	0.006
18	46808360	T	A	18	49281990	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.92932915562044E-5	0.0
18	46808360	T	C	18	49281990	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.92932915562044E-5	0.0
18	46808360	T	G	18	49281990	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.92932915562044E-5	0.0
18	46808361	A	C	18	49281991	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.830512840166023	0.622
18	46808361	A	G	18	49281991	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.84149198649189	0.678
18	46808361	A	T	18	49281991	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.947284879631604	0.638
18	46808362	C	A	18	49281992	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99998107798581	0.986
18	46808362	C	G	18	49281992	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999986314872187	0.94
18	46808362	C	T	18	49281992	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999990484985733	0.98
18	46808363	T	A	18	49281993	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.993848393525564	0.794
18	46808363	T	C	18	49281993	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.986237309392553	0.88
18	46808363	T	G	18	49281993	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.990514528599111	0.732
18	46808364	T	A	18	49281994	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999887107261431	0.88
18	46808364	T	C	18	49281994	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.60395694324651E-4	0.04
18	46808364	T	G	18	49281994	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999917565873359	0.884
18	46808365	A	C	18	49281995	y	y	splicing	DYM(NM_017653:exon11:c.1125+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.555+2T>G;ENST00000269445:exon11:c.1125+2T>G)	.	.	0.999989917668626	0.912
18	46808365	A	G	18	49281995	y	y	splicing	DYM(NM_017653:exon11:c.1125+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.555+2T>C;ENST00000269445:exon11:c.1125+2T>C)	.	.	0.990945634311904	0.618
18	46808365	A	T	18	49281995	y	y	splicing	DYM(NM_017653:exon11:c.1125+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.555+2T>A;ENST00000269445:exon11:c.1125+2T>A)	.	.	0.999989917668626	0.926
18	46808366	C	A	18	49281996	y	y	splicing	DYM(NM_017653:exon11:c.1125+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.555+1G>T;ENST00000269445:exon11:c.1125+1G>T)	.	.	0.999986675681007	0.932
18	46808366	C	G	18	49281996	y	y	splicing	DYM(NM_017653:exon11:c.1125+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.555+1G>C;ENST00000269445:exon11:c.1125+1G>C)	.	.	0.999986675681007	0.932
18	46808366	C	T	18	49281996	y	y	splicing	DYM(NM_017653:exon11:c.1125+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.555+1G>A;ENST00000269445:exon11:c.1125+1G>A)	.	.	0.999986675681007	0.932
18	46808367	A	C	18	49281997	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon10:c.T1125G:p.L375L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.T555G:p.L185L;ENSG00000141627:ENST00000269445:exon10:c.T1125G:p.L375L;	3.52404478463442E-5	0.022
18	46808367	A	G	18	49281997	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon10:c.T1125C:p.L375L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.T555C:p.L185L;ENSG00000141627:ENST00000269445:exon10:c.T1125C:p.L375L;	6.06861280291346E-5	0.028
18	46808367	A	T	18	49281997	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon10:c.T1125A:p.L375L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.T555A:p.L185L;ENSG00000141627:ENST00000269445:exon10:c.T1125A:p.L375L;	2.42316665312599E-5	0.002
18	46808368	A	C	18	49281998	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.T1124G:p.L375R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.T554G:p.L185R;ENSG00000141627:ENST00000269445:exon10:c.T1124G:p.L375R;	0.960315643570788	0.85
18	46808368	A	G	18	49281998	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.T1124C:p.L375P;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.T554C:p.L185P;ENSG00000141627:ENST00000269445:exon10:c.T1124C:p.L375P;	0.646959990642843	0.588
18	46808368	A	T	18	49281998	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.T1124A:p.L375H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.T554A:p.L185H;ENSG00000141627:ENST00000269445:exon10:c.T1124A:p.L375H;	0.685161038058095	0.61
18	46808369	G	A	18	49281999	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.C1123T:p.L375F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.C553T:p.L185F;ENSG00000141627:ENST00000269445:exon10:c.C1123T:p.L375F;	0.99829497753052	0.788
18	46808369	G	C	18	49281999	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.C1123G:p.L375V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.C553G:p.L185V;ENSG00000141627:ENST00000269445:exon10:c.C1123G:p.L375V;	0.883560407687524	0.548
18	46808369	G	T	18	49281999	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.C1123A:p.L375I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000442713:exon5:c.C553A:p.L185I;ENSG00000141627:ENST00000269445:exon10:c.C1123A:p.L375I;	0.898222077980973	0.662
18	46808544	A	C	18	49282174	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.T948G:p.D316E;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon6:c.T483G:p.D161E;ENSG00000141627:ENST00000442713:exon5:c.T378G:p.D126E;ENSG00000141627:ENST00000269445:exon10:c.T948G:p.D316E;	6.01775400973015E-4	0.066
18	46808544	A	G	18	49282174	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon10:c.T948C:p.D316D;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000584983:exon6:c.T483C:p.D161D;ENSG00000141627:ENST00000442713:exon5:c.T378C:p.D126D;ENSG00000141627:ENST00000269445:exon10:c.T948C:p.D316D;	3.7407253322646E-4	0.07
18	46808544	A	T	18	49282174	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.T948A:p.D316E;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon6:c.T483A:p.D161E;ENSG00000141627:ENST00000442713:exon5:c.T378A:p.D126E;ENSG00000141627:ENST00000269445:exon10:c.T948A:p.D316E;	8.45973209324667E-4	0.076
18	46808545	T	A	18	49282175	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.A947T:p.D316V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon6:c.A482T:p.D161V;ENSG00000141627:ENST00000442713:exon5:c.A377T:p.D126V;ENSG00000141627:ENST00000269445:exon10:c.A947T:p.D316V;	0.10528008342317	0.224
18	46808545	T	C	18	49282175	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.A947G:p.D316G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon6:c.A482G:p.D161G;ENSG00000141627:ENST00000442713:exon5:c.A377G:p.D126G;ENSG00000141627:ENST00000269445:exon10:c.A947G:p.D316G;	0.0019605899017271	0.014
18	46808545	T	G	18	49282175	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon10:c.A947C:p.D316A;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon6:c.A482C:p.D161A;ENSG00000141627:ENST00000442713:exon5:c.A377C:p.D126A;ENSG00000141627:ENST00000269445:exon10:c.A947C:p.D316A;	0.10528008342317	0.224
18	46808546	C	A	18	49282176	y	y	splicing	DYM(NM_017653:exon11:c.947-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.377-1G>T;ENST00000269445:exon11:c.947-1G>T;ENST00000584983:exon7:c.482-1G>T)	.	.	0.999989072007339	0.934
18	46808546	C	G	18	49282176	y	y	splicing	DYM(NM_017653:exon11:c.947-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.377-1G>C;ENST00000269445:exon11:c.947-1G>C;ENST00000584983:exon7:c.482-1G>C)	.	.	0.999989072007339	0.934
18	46808546	C	T	18	49282176	y	y	splicing	DYM(NM_017653:exon11:c.947-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.377-1G>A;ENST00000269445:exon11:c.947-1G>A;ENST00000584983:exon7:c.482-1G>A)	.	.	0.999989072007339	0.884
18	46808547	T	A	18	49282177	y	y	splicing	DYM(NM_017653:exon11:c.947-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.377-2A>T;ENST00000269445:exon11:c.947-2A>T;ENST00000584983:exon7:c.482-2A>T)	.	.	0.999988247793601	0.928
18	46808547	T	C	18	49282177	y	y	splicing	DYM(NM_017653:exon11:c.947-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.377-2A>G;ENST00000269445:exon11:c.947-2A>G;ENST00000584983:exon7:c.482-2A>G)	.	.	0.999988247793601	0.928
18	46808547	T	G	18	49282177	y	y	splicing	DYM(NM_017653:exon11:c.947-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon6:c.377-2A>C;ENST00000269445:exon11:c.947-2A>C;ENST00000584983:exon7:c.482-2A>C)	.	.	0.999988247793601	0.928
18	46808548	G	A	18	49282178	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.05646306564284E-4	0.078
18	46808548	G	C	18	49282178	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997975638124208	0.922
18	46808548	G	T	18	49282178	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.75614277779177	0.604
18	46808549	G	A	18	49282179	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.15515190173134E-5	0.0
18	46808549	G	C	18	49282179	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.66694086238379E-5	0.0
18	46808549	G	T	18	49282179	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.28673803263797E-5	0.002
18	46808550	A	C	18	49282180	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.519766561469024	0.46
18	46808550	A	G	18	49282180	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0143771825042795	0.178
18	46808550	A	T	18	49282180	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.510379246469687	0.488
18	46808551	A	C	18	49282181	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999933570221008	0.954
18	46808551	A	G	18	49282181	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0026416651178	0.096
18	46808551	A	T	18	49282181	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.936011871434247	0.504
18	46808552	T	A	18	49282182	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.75327940862583E-5	0.002
18	46808552	T	C	18	49282182	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.04860152160254E-5	0.0
18	46808552	T	G	18	49282182	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.84770623382394E-5	0.006
18	46808553	A	C	18	49282183	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.136997204410052	0.37
18	46808553	A	G	18	49282183	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00462582792587546	0.042
18	46808553	A	T	18	49282183	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.227766546938447	0.238
18	46808554	C	A	18	49282184	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.65900128268792E-4	0.0
18	46808554	C	G	18	49282184	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.71830467686849E-4	0.004
18	46808554	C	T	18	49282184	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.28430240343095E-4	0.034
18	46808555	A	C	18	49282185	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.959388084738678	0.64
18	46808555	A	G	18	49282185	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.6239000069578E-4	0.064
18	46808555	A	T	18	49282185	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999910780159392	0.976
18	46808556	G	A	18	49282186	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00102974132737246	0.066
18	46808556	G	C	18	49282186	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.25249979163281E-4	0.088
18	46808556	G	T	18	49282186	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0118389220344888	0.132
18	46808557	A	C	18	49282187	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.927566855926473	0.536
18	46808557	A	G	18	49282187	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00169440227029236	0.036
18	46808557	A	T	18	49282187	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.943926113308461	0.566
18	46812796	C	A	18	49286426	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.16651921575402E-5	0.01
18	46812796	C	G	18	49286426	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.16651921575402E-5	0.01
18	46812796	C	T	18	49286426	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.16651921575402E-5	0.006
18	46812797	C	A	18	49286427	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00416881779080293	0.04
18	46812797	C	G	18	49286427	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00629916944963604	0.13
18	46812797	C	T	18	49286427	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00696577542207123	0.068
18	46812798	A	C	18	49286428	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.972384454368383	0.814
18	46812798	A	G	18	49286428	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.944264806120441	0.768
18	46812798	A	T	18	49286428	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.906074815916556	0.646
18	46812799	C	A	18	49286429	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999864594424309	0.972
18	46812799	C	G	18	49286429	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999973181904577	0.992
18	46812799	C	T	18	49286429	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999909395406075	0.992
18	46812800	A	C	18	49286430	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.36539790560753E-5	0.062
18	46812800	A	G	18	49286430	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.53488553618593E-4	0.166
18	46812800	A	T	18	49286430	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.36534854530786E-4	0.118
18	46812801	A	C	18	49286431	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.15722369265023E-5	0.062
18	46812801	A	G	18	49286431	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.61616691391368E-4	0.112
18	46812801	A	T	18	49286431	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.31965059885789E-4	0.006
18	46812802	A	C	18	49286432	y	y	splicing	DYM(NM_017653:exon10:c.946+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.376+2T>G;ENST00000269445:exon10:c.946+2T>G;ENST00000584983:exon6:c.481+2T>G)	.	.	0.999986741007567	0.946
18	46812802	A	G	18	49286432	y	y	splicing	DYM(NM_017653:exon10:c.946+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.376+2T>C;ENST00000269445:exon10:c.946+2T>C;ENST00000584983:exon6:c.481+2T>C)	.	.	0.991645506214995	0.714
18	46812802	A	T	18	49286432	y	y	splicing	DYM(NM_017653:exon10:c.946+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.376+2T>A;ENST00000269445:exon10:c.946+2T>A;ENST00000584983:exon6:c.481+2T>A)	.	.	0.999986741007567	0.946
18	46812803	C	A	18	49286433	y	y	splicing	DYM(NM_017653:exon10:c.946+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.376+1G>T;ENST00000269445:exon10:c.946+1G>T;ENST00000584983:exon6:c.481+1G>T)	.	.	0.999989125585301	0.944
18	46812803	C	G	18	49286433	y	y	splicing	DYM(NM_017653:exon10:c.946+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.376+1G>C;ENST00000269445:exon10:c.946+1G>C;ENST00000584983:exon6:c.481+1G>C)	.	.	0.999989125585301	0.944
18	46812803	C	T	18	49286433	y	y	splicing	DYM(NM_017653:exon10:c.946+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.376+1G>A;ENST00000269445:exon10:c.946+1G>A;ENST00000584983:exon6:c.481+1G>A)	.	.	0.999989125585301	0.944
18	46812804	C	A	18	49286434	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.G946T:p.D316Y;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.G481T:p.D161Y;ENSG00000141627:ENST00000442713:exon4:c.G376T:p.D126Y;ENSG00000141627:ENST00000269445:exon9:c.G946T:p.D316Y;	0.999974308037221	1.0
18	46812804	C	G	18	49286434	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.G946C:p.D316H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.G481C:p.D161H;ENSG00000141627:ENST00000442713:exon4:c.G376C:p.D126H;ENSG00000141627:ENST00000269445:exon9:c.G946C:p.D316H;	0.999991207512919	1.0
18	46812804	C	T	18	49286434	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.G946A:p.D316N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.G481A:p.D161N;ENSG00000141627:ENST00000442713:exon4:c.G376A:p.D126N;ENSG00000141627:ENST00000269445:exon9:c.G946A:p.D316N;	0.999997205522925	1.0
18	46812805	T	A	18	49286435	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.A945T:p.Q315H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.A480T:p.Q160H;ENSG00000141627:ENST00000442713:exon4:c.A375T:p.Q125H;ENSG00000141627:ENST00000269445:exon9:c.A945T:p.Q315H;	0.99974470451582	0.98
18	46812805	T	C	18	49286435	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon9:c.A945G:p.Q315Q;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.A480G:p.Q160Q;ENSG00000141627:ENST00000442713:exon4:c.A375G:p.Q125Q;ENSG00000141627:ENST00000269445:exon9:c.A945G:p.Q315Q;	0.9984193603258	0.95
18	46812805	T	G	18	49286435	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.A945C:p.Q315H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.A480C:p.Q160H;ENSG00000141627:ENST00000442713:exon4:c.A375C:p.Q125H;ENSG00000141627:ENST00000269445:exon9:c.A945C:p.Q315H;	0.997039041180139	0.912
18	46812806	T	A	18	49286436	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.A944T:p.Q315L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.A479T:p.Q160L;ENSG00000141627:ENST00000442713:exon4:c.A374T:p.Q125L;ENSG00000141627:ENST00000269445:exon9:c.A944T:p.Q315L;	0.992648015243657	0.718
18	46812806	T	C	18	49286436	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.A944G:p.Q315R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.A479G:p.Q160R;ENSG00000141627:ENST00000442713:exon4:c.A374G:p.Q125R;ENSG00000141627:ENST00000269445:exon9:c.A944G:p.Q315R;	0.646443042115461	0.472
18	46812806	T	G	18	49286436	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.A944C:p.Q315P;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000584983:exon5:c.A479C:p.Q160P;ENSG00000141627:ENST00000442713:exon4:c.A374C:p.Q125P;ENSG00000141627:ENST00000269445:exon9:c.A944C:p.Q315P;	0.249087846171284	0.264
18	46812985	T	A	18	49286615	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon9:c.A765T:p.T255T;	exonic;splicing	ENSG00000141627;ENSG00000141627(ENST00000418472:exon10:c.621-2A>T;ENST00000583225:exon6:c.299-2A>T)	synonymous SNV	ENSG00000141627:ENST00000583280:exon5:c.A300T:p.T100T;ENSG00000141627:ENST00000584983:exon5:c.A300T:p.T100T;ENSG00000141627:ENST00000442713:exon4:c.A195T:p.A65A;ENSG00000141627:ENST00000581738:exon5:c.A300T:p.T100T;ENSG00000141627:ENST00000269445:exon9:c.A765T:p.T255T;	5.34260985169647E-6	0.134
18	46812985	T	C	18	49286615	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon9:c.A765G:p.T255T;	exonic;splicing	ENSG00000141627;ENSG00000141627(ENST00000418472:exon10:c.621-2A>G;ENST00000583225:exon6:c.299-2A>G)	synonymous SNV	ENSG00000141627:ENST00000583280:exon5:c.A300G:p.T100T;ENSG00000141627:ENST00000584983:exon5:c.A300G:p.T100T;ENSG00000141627:ENST00000442713:exon4:c.A195G:p.A65A;ENSG00000141627:ENST00000581738:exon5:c.A300G:p.T100T;ENSG00000141627:ENST00000269445:exon9:c.A765G:p.T255T;	1.57750464511681E-5	0.056
18	46812985	T	G	18	49286615	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon9:c.A765C:p.T255T;	exonic;splicing	ENSG00000141627;ENSG00000141627(ENST00000418472:exon10:c.621-2A>C;ENST00000583225:exon6:c.299-2A>C)	synonymous SNV	ENSG00000141627:ENST00000583280:exon5:c.A300C:p.T100T;ENSG00000141627:ENST00000584983:exon5:c.A300C:p.T100T;ENSG00000141627:ENST00000442713:exon4:c.A195C:p.A65A;ENSG00000141627:ENST00000581738:exon5:c.A300C:p.T100T;ENSG00000141627:ENST00000269445:exon9:c.A765C:p.T255T;	1.21152306714446E-5	0.026
18	46812986	G	A	18	49286616	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.C764T:p.T255I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon5:c.C299T:p.T100I;ENSG00000141627:ENST00000584983:exon5:c.C299T:p.T100I;ENSG00000141627:ENST00000442713:exon4:c.C194T:p.A65V;ENSG00000141627:ENST00000581738:exon5:c.C299T:p.T100I;ENSG00000141627:ENST00000269445:exon9:c.C764T:p.T255I;	0.0517613708931991	0.25
18	46812986	G	C	18	49286616	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.C764G:p.T255R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon5:c.C299G:p.T100R;ENSG00000141627:ENST00000584983:exon5:c.C299G:p.T100R;ENSG00000141627:ENST00000442713:exon4:c.C194G:p.A65G;ENSG00000141627:ENST00000581738:exon5:c.C299G:p.T100R;ENSG00000141627:ENST00000269445:exon9:c.C764G:p.T255R;	0.00451512183484167	0.11
18	46812986	G	T	18	49286616	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon9:c.C764A:p.T255K;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon5:c.C299A:p.T100K;ENSG00000141627:ENST00000584983:exon5:c.C299A:p.T100K;ENSG00000141627:ENST00000442713:exon4:c.C194A:p.A65E;ENSG00000141627:ENST00000581738:exon5:c.C299A:p.T100K;ENSG00000141627:ENST00000269445:exon9:c.C764A:p.T255K;	0.0127259674948551	0.094
18	46812987	C	A	18	49286617	y	y	splicing	DYM(NM_017653:exon10:c.764-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.194-1G>T;ENST00000269445:exon10:c.764-1G>T;ENST00000584983:exon6:c.299-1G>T;ENST00000581738:exon6:c.299-1G>T;ENST00000583280:exon6:c.299-1G>T)	.	.	0.999989125585301	0.944
18	46812987	C	G	18	49286617	y	y	splicing	DYM(NM_017653:exon10:c.764-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.194-1G>C;ENST00000269445:exon10:c.764-1G>C;ENST00000584983:exon6:c.299-1G>C;ENST00000581738:exon6:c.299-1G>C;ENST00000583280:exon6:c.299-1G>C)	.	.	0.999989125585301	0.944
18	46812987	C	T	18	49286617	y	y	splicing	DYM(NM_017653:exon10:c.764-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.194-1G>A;ENST00000269445:exon10:c.764-1G>A;ENST00000584983:exon6:c.299-1G>A;ENST00000581738:exon6:c.299-1G>A;ENST00000583280:exon6:c.299-1G>A)	.	.	0.999989125585301	0.944
18	46812988	T	A	18	49286618	y	y	splicing	DYM(NM_017653:exon10:c.764-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.194-2A>T;ENST00000269445:exon10:c.764-2A>T;ENST00000584983:exon6:c.299-2A>T;ENST00000581738:exon6:c.299-2A>T;ENST00000583280:exon6:c.299-2A>T)	.	.	0.999986741007567	0.946
18	46812988	T	C	18	49286618	y	y	splicing	DYM(NM_017653:exon10:c.764-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.194-2A>G;ENST00000269445:exon10:c.764-2A>G;ENST00000584983:exon6:c.299-2A>G;ENST00000581738:exon6:c.299-2A>G;ENST00000583280:exon6:c.299-2A>G)	.	.	0.999986741007567	0.946
18	46812988	T	G	18	49286618	y	y	splicing	DYM(NM_017653:exon10:c.764-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon5:c.194-2A>C;ENST00000269445:exon10:c.764-2A>C;ENST00000584983:exon6:c.299-2A>C;ENST00000581738:exon6:c.299-2A>C;ENST00000583280:exon6:c.299-2A>C)	.	.	0.999986741007567	0.946
18	46812989	G	A	18	49286619	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.13715256326796E-4	0.034
18	46812989	G	C	18	49286619	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999042154908818	0.782
18	46812989	G	T	18	49286619	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.951754273621032	0.498
18	46812990	G	A	18	49286620	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.50297572762795E-5	0.002
18	46812990	G	C	18	49286620	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.93661285345033E-5	0.004
18	46812990	G	T	18	49286620	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.93661285345033E-5	0.002
18	46812991	G	A	18	49286621	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.56135128645562E-5	0.0
18	46812991	G	C	18	49286621	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00194719838087022	0.144
18	46812991	G	T	18	49286621	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.58453901294856E-4	0.058
18	46812992	G	A	18	49286622	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.62849306038092E-6	0.002
18	46812992	G	C	18	49286622	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00843360432007088	0.168
18	46812992	G	T	18	49286622	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0212655058138741	0.18
18	46812993	A	C	18	49286623	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00124781697036677	0.05
18	46812993	A	G	18	49286623	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.48096699869966E-5	0.0
18	46812993	A	T	18	49286623	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00128825526566362	0.056
18	46812994	G	A	18	49286624	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.78528263120312E-5	0.006
18	46812994	G	C	18	49286624	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.16947738257946E-4	0.144
18	46812994	G	T	18	49286624	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.30447841968893E-4	0.08
18	46812995	G	A	18	49286625	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.61106537696538E-4	0.028
18	46812995	G	C	18	49286625	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00119708666574597	0.086
18	46812995	G	T	18	49286625	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00263799892401605	0.094
18	46812996	A	C	18	49286626	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0101154308581373	0.106
18	46812996	A	G	18	49286626	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00127475179824233	0.13
18	46812996	A	T	18	49286626	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0132684546696963	0.158
18	46812997	A	C	18	49286627	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0076811058432166	0.258
18	46812997	A	G	18	49286627	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00797429919279671	0.206
18	46812997	A	T	18	49286627	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0426597951516702	0.378
18	46812998	A	C	18	49286628	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.177433194877927	0.218
18	46812998	A	G	18	49286628	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0368816447519453	0.122
18	46812998	A	T	18	49286628	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.22084657575666	0.322
18	46847746	A	C	18	49321376	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000578396:exon6:c.T300G:p.N100K;	5.25211152755068E-5	0.0
18	46847746	A	G	18	49321376	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000578396:exon6:c.T300C:p.N100N;	1.36195737818257E-5	0.0
18	46847746	A	T	18	49321376	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000578396:exon6:c.T300A:p.N100K;	1.40940918270023E-4	0.0
18	46847747	T	A	18	49321377	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000578396:exon6:c.A299T:p.N100I;	1.90729588515235E-5	0.002
18	46847747	T	C	18	49321377	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000578396:exon6:c.A299G:p.N100S;	1.90729588515235E-5	0.002
18	46847747	T	G	18	49321377	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000578396:exon6:c.A299C:p.N100T;	1.90729588515235E-5	0.004
18	46847748	C	A	18	49321378	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000578396:exon7:c.299-1G>T)	.	.	3.57076726553018E-5	0.0
18	46847748	C	G	18	49321378	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000578396:exon7:c.299-1G>C)	.	.	3.57076726553018E-5	0.004
18	46847748	C	T	18	49321378	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000578396:exon7:c.299-1G>A)	.	.	3.57076726553018E-5	0.0
18	46847749	T	A	18	49321379	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000578396:exon7:c.299-2A>T)	.	.	6.89925739660516E-5	0.006
18	46847749	T	C	18	49321379	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000578396:exon7:c.299-2A>G)	.	.	3.31929338280547E-5	0.006
18	46847749	T	G	18	49321379	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000578396:exon7:c.299-2A>C)	.	.	3.31929338280547E-5	0.006
18	46847750	G	A	18	49321380	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00167990118951279	0.03
18	46847750	G	C	18	49321380	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00167990118951279	0.03
18	46847750	G	T	18	49321380	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00167990118951279	0.028
18	46847751	T	A	18	49321381	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.6128894829304E-5	0.002
18	46847751	T	C	18	49321381	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.49403053016175E-5	0.006
18	46847751	T	G	18	49321381	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.49403053016175E-5	0.006
18	46847752	T	A	18	49321382	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.88268727426181E-4	0.022
18	46847752	T	C	18	49321382	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.88268727426181E-4	0.026
18	46847752	T	G	18	49321382	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.88268727426181E-4	0.026
18	46847753	A	C	18	49321383	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.0180149904064E-5	0.01
18	46847753	A	G	18	49321383	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.0180149904064E-5	0.01
18	46847753	A	T	18	49321383	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.256915070725E-5	0.0
18	46847754	A	C	18	49321384	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.0180149904064E-5	0.01
18	46847754	A	G	18	49321384	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.0180149904064E-5	0.008
18	46847754	A	T	18	49321384	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.256915070725E-5	0.0
18	46847755	C	A	18	49321385	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.15849948155271E-5	0.0
18	46847755	C	G	18	49321385	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.15849948155271E-5	0.0
18	46847755	C	T	18	49321385	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.15849948155271E-5	0.0
18	46847756	A	C	18	49321386	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.09395893123295E-5	0.002
18	46847756	A	G	18	49321386	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.09395893123295E-5	0.002
18	46847756	A	T	18	49321386	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.09395893123295E-5	0.002
18	46847757	A	C	18	49321387	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00110381403670034	0.03
18	46847757	A	G	18	49321387	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00110381403670034	0.03
18	46847757	A	T	18	49321387	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00141400577656687	0.03
18	46847758	G	A	18	49321388	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.34280463342776E-4	0.004
18	46847758	G	C	18	49321388	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.34280463342776E-4	0.004
18	46847758	G	T	18	49321388	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.34280463342776E-4	0.004
18	46847759	A	C	18	49321389	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.78864525412067E-5	0.0
18	46847759	A	G	18	49321389	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.78864525412067E-5	0.0
18	46847759	A	T	18	49321389	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.08802802279601E-5	0.004
18	46856076	C	A	18	49329706	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	6.24453633365032E-5	0.0
18	46856076	C	G	18	49329706	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	7.5364181533214E-5	0.0
18	46856076	C	T	18	49329706	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	6.24453633365032E-5	0.0
18	46856077	T	A	18	49329707	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	6.68256441675417E-5	0.0
18	46856077	T	C	18	49329707	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	3.57898459540622E-5	0.0
18	46856077	T	G	18	49329707	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	3.57898459540622E-5	0.0
18	46856078	C	A	18	49329708	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000418472:exon9:c.486-1G>T)	.	.	3.78338081797952E-4	0.014
18	46856078	C	G	18	49329708	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000418472:exon9:c.486-1G>C)	.	.	3.38359245992373E-4	0.014
18	46856078	C	T	18	49329708	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000418472:exon9:c.486-1G>A)	.	.	4.77185116990374E-4	0.016
18	46856079	T	A	18	49329709	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000418472:exon9:c.486-2A>T)	.	.	0.00441569569744403	0.036
18	46856079	T	C	18	49329709	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000418472:exon9:c.486-2A>G)	.	.	0.00358875693255834	0.032
18	46856079	T	G	18	49329709	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000418472:exon9:c.486-2A>C)	.	.	0.00358875693255834	0.032
18	46856080	G	A	18	49329710	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.01029157003238E-4	0.0
18	46856080	G	C	18	49329710	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.15380256934019E-5	0.0
18	46856080	G	T	18	49329710	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.01029157003238E-4	0.0
18	46856081	T	A	18	49329711	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.46844991217429E-5	0.0
18	46856081	T	C	18	49329711	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.17564447662592E-4	0.0
18	46856081	T	G	18	49329711	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.17564447662592E-4	0.0
18	46856082	T	A	18	49329712	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.00626085777549E-4	0.008
18	46856082	T	C	18	49329712	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.80793394726513E-5	0.008
18	46856082	T	G	18	49329712	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.80793394726513E-5	0.008
18	46856083	T	A	18	49329713	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00157480587162464	0.022
18	46856083	T	C	18	49329713	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00117003785474806	0.042
18	46856083	T	G	18	49329713	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00117003785474806	0.028
18	46856084	C	A	18	49329714	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.59869823547165E-5	0.002
18	46856084	C	G	18	49329714	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.7106675465155E-5	0.002
18	46856084	C	T	18	49329714	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.68632724264029E-5	0.002
18	46856085	A	C	18	49329715	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.07902708129146E-4	0.004
18	46856085	A	G	18	49329715	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.07902708129146E-4	0.004
18	46856085	A	T	18	49329715	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.44101454748109E-4	0.004
18	46856086	A	C	18	49329716	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.64857229448119E-4	0.002
18	46856086	A	G	18	49329716	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.64857229448119E-4	0.002
18	46856086	A	T	18	49329716	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.30417542395679E-4	0.008
18	46856087	A	C	18	49329717	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.40574106618509E-4	0.006
18	46856087	A	G	18	49329717	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.40574106618509E-4	0.006
18	46856087	A	T	18	49329717	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.40574106618509E-4	0.006
18	46856088	G	A	18	49329718	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.8440565094543E-4	0.002
18	46856088	G	C	18	49329718	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.79423476987295E-4	0.002
18	46856088	G	T	18	49329718	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.8440565094543E-4	0.002
18	46856089	G	A	18	49329719	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.08821754560775E-4	0.01
18	46856089	G	C	18	49329719	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.41406964667218E-4	0.012
18	46856089	G	T	18	49329719	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.08821754560775E-4	0.012
18	46858226	A	C	18	49331856	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.99133889764666E-4	0.06
18	46858226	A	G	18	49331856	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.51694357154867E-4	0.034
18	46858226	A	T	18	49331856	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.36187302972482E-4	0.004
18	46858227	A	C	18	49331857	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.48663990815143E-5	0.002
18	46858227	A	G	18	49331857	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.97256500263119E-5	0.002
18	46858227	A	T	18	49331857	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.09014217409248E-4	0.002
18	46858228	A	C	18	49331858	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0193555044980343	0.226
18	46858228	A	G	18	49331858	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.224887318794273	0.352
18	46858228	A	T	18	49331858	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0869941366242882	0.25
18	46858229	C	A	18	49331859	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.998659015793002	0.848
18	46858229	C	G	18	49331859	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997424412142151	0.898
18	46858229	C	T	18	49331859	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.995708541335169	0.948
18	46858230	T	A	18	49331860	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.996984622439968	0.904
18	46858230	T	C	18	49331860	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997448276839668	0.876
18	46858230	T	G	18	49331860	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997243142107113	0.838
18	46858231	T	A	18	49331861	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.996625406417078	0.906
18	46858231	T	C	18	49331861	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.191926563154589	0.256
18	46858231	T	G	18	49331861	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999745269850155	0.888
18	46858232	A	C	18	49331862	y	y	splicing	DYM(NM_017653:exon9:c.763+2T>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.763+2T>G;ENST00000584983:exon5:c.298+2T>G;ENST00000418472:exon8:c.485+2T>G;ENST00000583225:exon5:c.298+2T>G;ENST00000581738:exon5:c.298+2T>G;ENST00000583280:exon5:c.298+2T>G;ENST00000578396:exon6:c.298+2T>G)	.	.	0.999988247793601	0.928
18	46858232	A	G	18	49331862	y	y	splicing	DYM(NM_017653:exon9:c.763+2T>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.763+2T>C;ENST00000584983:exon5:c.298+2T>C;ENST00000418472:exon8:c.485+2T>C;ENST00000583225:exon5:c.298+2T>C;ENST00000581738:exon5:c.298+2T>C;ENST00000583280:exon5:c.298+2T>C;ENST00000578396:exon6:c.298+2T>C)	.	.	0.994669226766359	0.664
18	46858232	A	T	18	49331862	y	y	splicing	DYM(NM_017653:exon9:c.763+2T>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.763+2T>A;ENST00000584983:exon5:c.298+2T>A;ENST00000418472:exon8:c.485+2T>A;ENST00000583225:exon5:c.298+2T>A;ENST00000581738:exon5:c.298+2T>A;ENST00000583280:exon5:c.298+2T>A;ENST00000578396:exon6:c.298+2T>A)	.	.	0.999988247793601	0.928
18	46858233	C	A	18	49331863	y	y	splicing	DYM(NM_017653:exon9:c.763+1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.763+1G>T;ENST00000584983:exon5:c.298+1G>T;ENST00000418472:exon8:c.485+1G>T;ENST00000583225:exon5:c.298+1G>T;ENST00000581738:exon5:c.298+1G>T;ENST00000583280:exon5:c.298+1G>T;ENST00000578396:exon6:c.298+1G>T)	.	.	0.999986675681007	0.932
18	46858233	C	G	18	49331863	y	y	splicing	DYM(NM_017653:exon9:c.763+1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.763+1G>C;ENST00000584983:exon5:c.298+1G>C;ENST00000418472:exon8:c.485+1G>C;ENST00000583225:exon5:c.298+1G>C;ENST00000581738:exon5:c.298+1G>C;ENST00000583280:exon5:c.298+1G>C;ENST00000578396:exon6:c.298+1G>C)	.	.	0.999986675681007	0.932
18	46858233	C	T	18	49331863	y	y	splicing	DYM(NM_017653:exon9:c.763+1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.763+1G>A;ENST00000584983:exon5:c.298+1G>A;ENST00000418472:exon8:c.485+1G>A;ENST00000583225:exon5:c.298+1G>A;ENST00000581738:exon5:c.298+1G>A;ENST00000583280:exon5:c.298+1G>A;ENST00000578396:exon6:c.298+1G>A)	.	.	0.999986675681007	0.932
18	46858234	T	A	18	49331864	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.A763T:p.T255S;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000583225:exon4:c.A298T:p.R100X;	0.791388717579697	0.726
18	46858234	T	C	18	49331864	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.A763G:p.T255A;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.A298G:p.T100A;ENSG00000141627:ENST00000584983:exon4:c.A298G:p.T100A;ENSG00000141627:ENST00000578396:exon5:c.A298G:p.N100D;ENSG00000141627:ENST00000581738:exon4:c.A298G:p.T100A;ENSG00000141627:ENST00000583225:exon4:c.A298G:p.R100G;ENSG00000141627:ENST00000269445:exon8:c.A763G:p.T255A;	0.00848202139952669	0.13
18	46858234	T	G	18	49331864	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.A763C:p.T255P;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.A298C:p.T100P;ENSG00000141627:ENST00000584983:exon4:c.A298C:p.T100P;ENSG00000141627:ENST00000578396:exon5:c.A298C:p.N100H;ENSG00000141627:ENST00000581738:exon4:c.A298C:p.T100P;ENSG00000141627:ENST00000269445:exon8:c.A763C:p.T255P;	0.228459384135835	0.478
18	46858235	T	A	18	49331865	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon8:c.A762T:p.A254A;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.A297T:p.A99A;ENSG00000141627:ENST00000584983:exon4:c.A297T:p.A99A;ENSG00000141627:ENST00000578396:exon5:c.A297T:p.A99A;ENSG00000141627:ENST00000581738:exon4:c.A297T:p.A99A;ENSG00000141627:ENST00000583225:exon4:c.A297T:p.A99A;ENSG00000141627:ENST00000269445:exon8:c.A762T:p.A254A;	0.453911181323761	0.474
18	46858235	T	C	18	49331865	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon8:c.A762G:p.A254A;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.A297G:p.A99A;ENSG00000141627:ENST00000584983:exon4:c.A297G:p.A99A;ENSG00000141627:ENST00000578396:exon5:c.A297G:p.A99A;ENSG00000141627:ENST00000581738:exon4:c.A297G:p.A99A;ENSG00000141627:ENST00000583225:exon4:c.A297G:p.A99A;ENSG00000141627:ENST00000269445:exon8:c.A762G:p.A254A;	0.0471948681085445	0.392
18	46858235	T	G	18	49331865	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon8:c.A762C:p.A254A;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.A297C:p.A99A;ENSG00000141627:ENST00000584983:exon4:c.A297C:p.A99A;ENSG00000141627:ENST00000578396:exon5:c.A297C:p.A99A;ENSG00000141627:ENST00000581738:exon4:c.A297C:p.A99A;ENSG00000141627:ENST00000583225:exon4:c.A297C:p.A99A;ENSG00000141627:ENST00000269445:exon8:c.A762C:p.A254A;	0.0616675118054254	0.438
18	46858236	G	A	18	49331866	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.C761T:p.A254V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.C296T:p.A99V;ENSG00000141627:ENST00000584983:exon4:c.C296T:p.A99V;ENSG00000141627:ENST00000578396:exon5:c.C296T:p.A99V;ENSG00000141627:ENST00000581738:exon4:c.C296T:p.A99V;ENSG00000141627:ENST00000583225:exon4:c.C296T:p.A99V;ENSG00000141627:ENST00000269445:exon8:c.C761T:p.A254V;	0.997521557475896	0.914
18	46858236	G	C	18	49331866	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.C761G:p.A254G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.C296G:p.A99G;ENSG00000141627:ENST00000584983:exon4:c.C296G:p.A99G;ENSG00000141627:ENST00000578396:exon5:c.C296G:p.A99G;ENSG00000141627:ENST00000581738:exon4:c.C296G:p.A99G;ENSG00000141627:ENST00000583225:exon4:c.C296G:p.A99G;ENSG00000141627:ENST00000269445:exon8:c.C761G:p.A254G;	0.878187123149958	0.558
18	46858236	G	T	18	49331866	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.C761A:p.A254E;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.C296A:p.A99E;ENSG00000141627:ENST00000584983:exon4:c.C296A:p.A99E;ENSG00000141627:ENST00000578396:exon5:c.C296A:p.A99E;ENSG00000141627:ENST00000581738:exon4:c.C296A:p.A99E;ENSG00000141627:ENST00000583225:exon4:c.C296A:p.A99E;ENSG00000141627:ENST00000269445:exon8:c.C761A:p.A254E;	0.959597599429194	0.692
18	46858375	G	A	18	49332005	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.C622T:p.L208F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.C157T:p.L53F;ENSG00000141627:ENST00000584983:exon4:c.C157T:p.L53F;ENSG00000141627:ENST00000578396:exon5:c.C157T:p.L53F;ENSG00000141627:ENST00000581738:exon4:c.C157T:p.L53F;ENSG00000141627:ENST00000583225:exon4:c.C157T:p.L53F;ENSG00000141627:ENST00000269445:exon8:c.C622T:p.L208F;	0.00113154428264499	0.036
18	46858375	G	C	18	49332005	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.C622G:p.L208V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.C157G:p.L53V;ENSG00000141627:ENST00000584983:exon4:c.C157G:p.L53V;ENSG00000141627:ENST00000578396:exon5:c.C157G:p.L53V;ENSG00000141627:ENST00000581738:exon4:c.C157G:p.L53V;ENSG00000141627:ENST00000583225:exon4:c.C157G:p.L53V;ENSG00000141627:ENST00000269445:exon8:c.C622G:p.L208V;	0.0013492267087033	0.062
18	46858375	G	T	18	49332005	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.C622A:p.L208I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.C157A:p.L53I;ENSG00000141627:ENST00000584983:exon4:c.C157A:p.L53I;ENSG00000141627:ENST00000578396:exon5:c.C157A:p.L53I;ENSG00000141627:ENST00000581738:exon4:c.C157A:p.L53I;ENSG00000141627:ENST00000583225:exon4:c.C157A:p.L53I;ENSG00000141627:ENST00000269445:exon8:c.C622A:p.L208I;	0.00468137117580818	0.046
18	46858376	A	C	18	49332006	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon8:c.T621G:p.C207W;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.T156G:p.C52W;ENSG00000141627:ENST00000584983:exon4:c.T156G:p.C52W;ENSG00000141627:ENST00000578396:exon5:c.T156G:p.C52W;ENSG00000141627:ENST00000581738:exon4:c.T156G:p.C52W;ENSG00000141627:ENST00000583225:exon4:c.T156G:p.C52W;ENSG00000141627:ENST00000269445:exon8:c.T621G:p.C207W;	4.32307217534792E-4	0.12
18	46858376	A	G	18	49332006	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon8:c.T621C:p.C207C;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon4:c.T156C:p.C52C;ENSG00000141627:ENST00000584983:exon4:c.T156C:p.C52C;ENSG00000141627:ENST00000578396:exon5:c.T156C:p.C52C;ENSG00000141627:ENST00000581738:exon4:c.T156C:p.C52C;ENSG00000141627:ENST00000583225:exon4:c.T156C:p.C52C;ENSG00000141627:ENST00000269445:exon8:c.T621C:p.C207C;	5.25615110777568E-5	0.01
18	46858376	A	T	18	49332006	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon8:c.T621A:p.C207X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000583280:exon4:c.T156A:p.C52X;ENSG00000141627:ENST00000584983:exon4:c.T156A:p.C52X;ENSG00000141627:ENST00000578396:exon5:c.T156A:p.C52X;ENSG00000141627:ENST00000581738:exon4:c.T156A:p.C52X;ENSG00000141627:ENST00000583225:exon4:c.T156A:p.C52X;ENSG00000141627:ENST00000269445:exon8:c.T621A:p.C207X;	0.0148321241539396	0.396
18	46858377	C	A	18	49332007	y	y	splicing	DYM(NM_017653:exon9:c.621-1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.621-1G>T;ENST00000584983:exon5:c.156-1G>T;ENST00000418472:exon8:c.343-1G>T;ENST00000583225:exon5:c.156-1G>T;ENST00000581738:exon5:c.156-1G>T;ENST00000583280:exon5:c.156-1G>T;ENST00000578396:exon6:c.156-1G>T)	.	.	0.999990361384395	0.938
18	46858377	C	G	18	49332007	y	y	splicing	DYM(NM_017653:exon9:c.621-1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.621-1G>C;ENST00000584983:exon5:c.156-1G>C;ENST00000418472:exon8:c.343-1G>C;ENST00000583225:exon5:c.156-1G>C;ENST00000581738:exon5:c.156-1G>C;ENST00000583280:exon5:c.156-1G>C;ENST00000578396:exon6:c.156-1G>C)	.	.	0.999990361384395	0.938
18	46858377	C	T	18	49332007	y	y	splicing	DYM(NM_017653:exon9:c.621-1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.621-1G>A;ENST00000584983:exon5:c.156-1G>A;ENST00000418472:exon8:c.343-1G>A;ENST00000583225:exon5:c.156-1G>A;ENST00000581738:exon5:c.156-1G>A;ENST00000583280:exon5:c.156-1G>A;ENST00000578396:exon6:c.156-1G>A)	.	.	0.999990361384395	0.938
18	46858378	T	A	18	49332008	y	y	splicing	DYM(NM_017653:exon9:c.621-2A>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.621-2A>T;ENST00000584983:exon5:c.156-2A>T;ENST00000418472:exon8:c.343-2A>T;ENST00000583225:exon5:c.156-2A>T;ENST00000581738:exon5:c.156-2A>T;ENST00000583280:exon5:c.156-2A>T;ENST00000578396:exon6:c.156-2A>T)	.	.	0.999988247793601	0.932
18	46858378	T	C	18	49332008	y	y	splicing	DYM(NM_017653:exon9:c.621-2A>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.621-2A>G;ENST00000584983:exon5:c.156-2A>G;ENST00000418472:exon8:c.343-2A>G;ENST00000583225:exon5:c.156-2A>G;ENST00000581738:exon5:c.156-2A>G;ENST00000583280:exon5:c.156-2A>G;ENST00000578396:exon6:c.156-2A>G)	.	.	0.999988247793601	0.932
18	46858378	T	G	18	49332008	y	y	splicing	DYM(NM_017653:exon9:c.621-2A>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon9:c.621-2A>C;ENST00000584983:exon5:c.156-2A>C;ENST00000418472:exon8:c.343-2A>C;ENST00000583225:exon5:c.156-2A>C;ENST00000581738:exon5:c.156-2A>C;ENST00000583280:exon5:c.156-2A>C;ENST00000578396:exon6:c.156-2A>C)	.	.	0.999988247793601	0.932
18	46858379	A	C	18	49332009	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997555974091866	0.708
18	46858379	A	G	18	49332009	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.63832395193626E-5	0.0
18	46858379	A	T	18	49332009	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.241820434363913	0.308
18	46858380	T	A	18	49332010	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.96126998689831E-5	0.006
18	46858380	T	C	18	49332010	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.37833952537916E-4	0.004
18	46858380	T	G	18	49332010	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.8346989895474E-5	0.0
18	46858381	A	C	18	49332011	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0118552206286944	0.238
18	46858381	A	G	18	49332011	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.46857656857526E-5	0.028
18	46858381	A	T	18	49332011	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00805830829520525	0.292
18	46858382	C	A	18	49332012	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.88525291024144E-5	0.006
18	46858382	C	G	18	49332012	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.4893749318545E-5	0.002
18	46858382	C	T	18	49332012	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.26954946448503E-5	0.0
18	46858383	A	C	18	49332013	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00490517352619889	0.154
18	46858383	A	G	18	49332013	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.36011750449195E-4	0.018
18	46858383	A	T	18	49332013	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99988848086735	0.972
18	46858384	A	C	18	49332014	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.3094797484543E-4	0.088
18	46858384	A	G	18	49332014	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.41522515770482E-5	0.0
18	46858384	A	T	18	49332014	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00131244344929003	0.17
18	46858385	A	C	18	49332015	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.35029895196206E-4	0.114
18	46858385	A	G	18	49332015	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.22513204758982E-5	0.028
18	46858385	A	T	18	49332015	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.58363370363645E-4	0.11
18	46858386	A	C	18	49332016	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00332216404939726	0.16
18	46858386	A	G	18	49332016	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.38157644982424E-4	0.022
18	46858386	A	T	18	49332016	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00272489955138	0.16
18	46858387	A	C	18	49332017	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.901119154306766	0.694
18	46858387	A	G	18	49332017	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.865584335958004	0.6
18	46858387	A	T	18	49332017	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.980338145020046	0.818
18	46858388	G	A	18	49332018	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.3512436518448E-5	0.116
18	46858388	G	C	18	49332018	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.10269234251986E-4	0.048
18	46858388	G	T	18	49332018	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.37367162748105E-4	0.034
18	46860090	A	C	18	49333720	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.30125520544938E-4	0.026
18	46860090	A	G	18	49333720	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.07303516828616E-4	0.0
18	46860090	A	T	18	49333720	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.50214294627307E-4	0.01
18	46860091	A	C	18	49333721	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.93946893375628E-6	0.0
18	46860091	A	G	18	49333721	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.05746359002829E-6	0.0
18	46860091	A	T	18	49333721	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.39906243739498E-5	0.0
18	46860092	A	C	18	49333722	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0202245787731537	0.346
18	46860092	A	G	18	49333722	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.172209042957081	0.346
18	46860092	A	T	18	49333722	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.243904543635374	0.39
18	46860093	C	A	18	49333723	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999926045852181	0.966
18	46860093	C	G	18	49333723	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99996724961546	0.944
18	46860093	C	T	18	49333723	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99984175926246	0.938
18	46860094	A	C	18	49333724	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.99126590720023E-5	0.018
18	46860094	A	G	18	49333724	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.05135563505013E-5	0.02
18	46860094	A	T	18	49333724	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19209834665226E-5	0.042
18	46860095	T	A	18	49333725	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.998174795237859	0.866
18	46860095	T	C	18	49333725	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.996054549282417	0.854
18	46860095	T	G	18	49333725	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999800331024789	0.948
18	46860096	A	C	18	49333726	y	y	splicing	DYM(NM_017653:exon8:c.620+2T>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.620+2T>G;ENST00000584983:exon4:c.155+2T>G;ENST00000418472:exon7:c.342+2T>G;ENST00000583225:exon4:c.155+2T>G;ENST00000581738:exon4:c.155+2T>G;ENST00000583280:exon4:c.155+2T>G;ENST00000578396:exon5:c.155+2T>G)	.	.	0.999776343999236	0.91
18	46860096	A	G	18	49333726	y	y	splicing	DYM(NM_017653:exon8:c.620+2T>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.620+2T>C;ENST00000584983:exon4:c.155+2T>C;ENST00000418472:exon7:c.342+2T>C;ENST00000583225:exon4:c.155+2T>C;ENST00000581738:exon4:c.155+2T>C;ENST00000583280:exon4:c.155+2T>C;ENST00000578396:exon5:c.155+2T>C)	.	.	0.877373831105922	0.57
18	46860096	A	T	18	49333726	y	y	splicing	DYM(NM_017653:exon8:c.620+2T>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.620+2T>A;ENST00000584983:exon4:c.155+2T>A;ENST00000418472:exon7:c.342+2T>A;ENST00000583225:exon4:c.155+2T>A;ENST00000581738:exon4:c.155+2T>A;ENST00000583280:exon4:c.155+2T>A;ENST00000578396:exon5:c.155+2T>A)	.	.	0.999776343999236	0.904
18	46860097	C	A	18	49333727	y	y	splicing	DYM(NM_017653:exon8:c.620+1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.620+1G>T;ENST00000584983:exon4:c.155+1G>T;ENST00000418472:exon7:c.342+1G>T;ENST00000583225:exon4:c.155+1G>T;ENST00000581738:exon4:c.155+1G>T;ENST00000583280:exon4:c.155+1G>T;ENST00000578396:exon5:c.155+1G>T)	.	.	0.999981760802075	0.936
18	46860097	C	G	18	49333727	y	y	splicing	DYM(NM_017653:exon8:c.620+1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.620+1G>C;ENST00000584983:exon4:c.155+1G>C;ENST00000418472:exon7:c.342+1G>C;ENST00000583225:exon4:c.155+1G>C;ENST00000581738:exon4:c.155+1G>C;ENST00000583280:exon4:c.155+1G>C;ENST00000578396:exon5:c.155+1G>C)	.	.	0.999981760802075	0.936
18	46860097	C	T	18	49333727	y	y	splicing	DYM(NM_017653:exon8:c.620+1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.620+1G>A;ENST00000584983:exon4:c.155+1G>A;ENST00000418472:exon7:c.342+1G>A;ENST00000583225:exon4:c.155+1G>A;ENST00000581738:exon4:c.155+1G>A;ENST00000583280:exon4:c.155+1G>A;ENST00000578396:exon5:c.155+1G>A)	.	.	0.999981760802075	0.936
18	46860098	C	A	18	49333728	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.G620T:p.C207F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.G155T:p.C52F;ENSG00000141627:ENST00000584983:exon3:c.G155T:p.C52F;ENSG00000141627:ENST00000578396:exon4:c.G155T:p.C52F;ENSG00000141627:ENST00000581738:exon3:c.G155T:p.C52F;ENSG00000141627:ENST00000583225:exon3:c.G155T:p.C52F;ENSG00000141627:ENST00000269445:exon7:c.G620T:p.C207F;	0.999820612741188	0.878
18	46860098	C	G	18	49333728	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.G620C:p.C207S;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.G155C:p.C52S;ENSG00000141627:ENST00000584983:exon3:c.G155C:p.C52S;ENSG00000141627:ENST00000578396:exon4:c.G155C:p.C52S;ENSG00000141627:ENST00000581738:exon3:c.G155C:p.C52S;ENSG00000141627:ENST00000583225:exon3:c.G155C:p.C52S;ENSG00000141627:ENST00000269445:exon7:c.G620C:p.C207S;	0.99989811962063	0.872
18	46860098	C	T	18	49333728	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.G620A:p.C207Y;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.G155A:p.C52Y;ENSG00000141627:ENST00000584983:exon3:c.G155A:p.C52Y;ENSG00000141627:ENST00000578396:exon4:c.G155A:p.C52Y;ENSG00000141627:ENST00000581738:exon3:c.G155A:p.C52Y;ENSG00000141627:ENST00000583225:exon3:c.G155A:p.C52Y;ENSG00000141627:ENST00000269445:exon7:c.G620A:p.C207Y;	0.999742560084344	0.974
18	46860099	A	C	18	49333729	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.T619G:p.C207G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.T154G:p.C52G;ENSG00000141627:ENST00000584983:exon3:c.T154G:p.C52G;ENSG00000141627:ENST00000578396:exon4:c.T154G:p.C52G;ENSG00000141627:ENST00000581738:exon3:c.T154G:p.C52G;ENSG00000141627:ENST00000583225:exon3:c.T154G:p.C52G;ENSG00000141627:ENST00000269445:exon7:c.T619G:p.C207G;	0.0355362085723482	0.226
18	46860099	A	G	18	49333729	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.T619C:p.C207R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.T154C:p.C52R;ENSG00000141627:ENST00000584983:exon3:c.T154C:p.C52R;ENSG00000141627:ENST00000578396:exon4:c.T154C:p.C52R;ENSG00000141627:ENST00000581738:exon3:c.T154C:p.C52R;ENSG00000141627:ENST00000583225:exon3:c.T154C:p.C52R;ENSG00000141627:ENST00000269445:exon7:c.T619C:p.C207R;	0.0179395602030299	0.174
18	46860099	A	T	18	49333729	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.T619A:p.C207S;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.T154A:p.C52S;ENSG00000141627:ENST00000584983:exon3:c.T154A:p.C52S;ENSG00000141627:ENST00000578396:exon4:c.T154A:p.C52S;ENSG00000141627:ENST00000581738:exon3:c.T154A:p.C52S;ENSG00000141627:ENST00000583225:exon3:c.T154A:p.C52S;ENSG00000141627:ENST00000269445:exon7:c.T619A:p.C207S;	0.00246151546116867	0.092
18	46860100	T	A	18	49333730	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon7:c.A618T:p.P206P;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.A153T:p.P51P;ENSG00000141627:ENST00000584983:exon3:c.A153T:p.P51P;ENSG00000141627:ENST00000578396:exon4:c.A153T:p.P51P;ENSG00000141627:ENST00000581738:exon3:c.A153T:p.P51P;ENSG00000141627:ENST00000583225:exon3:c.A153T:p.P51P;ENSG00000141627:ENST00000269445:exon7:c.A618T:p.P206P;	0.0492243495192274	0.256
18	46860100	T	C	18	49333730	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon7:c.A618G:p.P206P;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.A153G:p.P51P;ENSG00000141627:ENST00000584983:exon3:c.A153G:p.P51P;ENSG00000141627:ENST00000578396:exon4:c.A153G:p.P51P;ENSG00000141627:ENST00000581738:exon3:c.A153G:p.P51P;ENSG00000141627:ENST00000583225:exon3:c.A153G:p.P51P;ENSG00000141627:ENST00000269445:exon7:c.A618G:p.P206P;	0.00276363264899542	0.248
18	46860100	T	G	18	49333730	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon7:c.A618C:p.P206P;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.A153C:p.P51P;ENSG00000141627:ENST00000584983:exon3:c.A153C:p.P51P;ENSG00000141627:ENST00000578396:exon4:c.A153C:p.P51P;ENSG00000141627:ENST00000581738:exon3:c.A153C:p.P51P;ENSG00000141627:ENST00000583225:exon3:c.A153C:p.P51P;ENSG00000141627:ENST00000269445:exon7:c.A618C:p.P206P;	9.09409790112999E-4	0.054
18	46860222	C	A	18	49333852	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.G496T:p.D166Y;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.G31T:p.D11Y;ENSG00000141627:ENST00000584983:exon3:c.G31T:p.D11Y;ENSG00000141627:ENST00000578396:exon4:c.G31T:p.D11Y;ENSG00000141627:ENST00000581738:exon3:c.G31T:p.D11Y;ENSG00000141627:ENST00000583225:exon3:c.G31T:p.D11Y;ENSG00000141627:ENST00000269445:exon7:c.G496T:p.D166Y;	0.00732465466337847	0.054
18	46860222	C	G	18	49333852	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.G496C:p.D166H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.G31C:p.D11H;ENSG00000141627:ENST00000584983:exon3:c.G31C:p.D11H;ENSG00000141627:ENST00000578396:exon4:c.G31C:p.D11H;ENSG00000141627:ENST00000581738:exon3:c.G31C:p.D11H;ENSG00000141627:ENST00000583225:exon3:c.G31C:p.D11H;ENSG00000141627:ENST00000269445:exon7:c.G496C:p.D166H;	0.0031489151328589	0.064
18	46860222	C	T	18	49333852	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.G496A:p.D166N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.G31A:p.D11N;ENSG00000141627:ENST00000584983:exon3:c.G31A:p.D11N;ENSG00000141627:ENST00000578396:exon4:c.G31A:p.D11N;ENSG00000141627:ENST00000581738:exon3:c.G31A:p.D11N;ENSG00000141627:ENST00000583225:exon3:c.G31A:p.D11N;ENSG00000141627:ENST00000269445:exon7:c.G496A:p.D166N;	0.0279011764695721	0.154
18	46860223	T	A	18	49333853	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.A495T:p.L165F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.A30T:p.L10F;ENSG00000141627:ENST00000584983:exon3:c.A30T:p.L10F;ENSG00000141627:ENST00000578396:exon4:c.A30T:p.L10F;ENSG00000141627:ENST00000581738:exon3:c.A30T:p.L10F;ENSG00000141627:ENST00000583225:exon3:c.A30T:p.L10F;ENSG00000141627:ENST00000269445:exon7:c.A495T:p.L165F;	6.93112430553568E-5	0.016
18	46860223	T	C	18	49333853	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon7:c.A495G:p.L165L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.A30G:p.L10L;ENSG00000141627:ENST00000584983:exon3:c.A30G:p.L10L;ENSG00000141627:ENST00000578396:exon4:c.A30G:p.L10L;ENSG00000141627:ENST00000581738:exon3:c.A30G:p.L10L;ENSG00000141627:ENST00000583225:exon3:c.A30G:p.L10L;ENSG00000141627:ENST00000269445:exon7:c.A495G:p.L165L;	6.82073355558751E-5	0.0
18	46860223	T	G	18	49333853	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon7:c.A495C:p.L165F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon3:c.A30C:p.L10F;ENSG00000141627:ENST00000584983:exon3:c.A30C:p.L10F;ENSG00000141627:ENST00000578396:exon4:c.A30C:p.L10F;ENSG00000141627:ENST00000581738:exon3:c.A30C:p.L10F;ENSG00000141627:ENST00000583225:exon3:c.A30C:p.L10F;ENSG00000141627:ENST00000269445:exon7:c.A495C:p.L165F;	6.93112430553568E-5	0.012
18	46860224	C	A	18	49333854	y	y	splicing	DYM(NM_017653:exon8:c.495-1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.495-1G>T;ENST00000584983:exon4:c.30-1G>T;ENST00000418472:exon7:c.217-1G>T;ENST00000583225:exon4:c.30-1G>T;ENST00000581738:exon4:c.30-1G>T;ENST00000583280:exon4:c.30-1G>T;ENST00000578396:exon5:c.30-1G>T)	.	.	0.999938422912956	0.942
18	46860224	C	G	18	49333854	y	y	splicing	DYM(NM_017653:exon8:c.495-1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.495-1G>C;ENST00000584983:exon4:c.30-1G>C;ENST00000418472:exon7:c.217-1G>C;ENST00000583225:exon4:c.30-1G>C;ENST00000581738:exon4:c.30-1G>C;ENST00000583280:exon4:c.30-1G>C;ENST00000578396:exon5:c.30-1G>C)	.	.	0.999938422912956	0.946
18	46860224	C	T	18	49333854	y	y	splicing	DYM(NM_017653:exon8:c.495-1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.495-1G>A;ENST00000584983:exon4:c.30-1G>A;ENST00000418472:exon7:c.217-1G>A;ENST00000583225:exon4:c.30-1G>A;ENST00000581738:exon4:c.30-1G>A;ENST00000583280:exon4:c.30-1G>A;ENST00000578396:exon5:c.30-1G>A)	.	.	0.999938422912956	0.942
18	46860225	T	A	18	49333855	y	y	splicing	DYM(NM_017653:exon8:c.495-2A>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.495-2A>T;ENST00000584983:exon4:c.30-2A>T;ENST00000418472:exon7:c.217-2A>T;ENST00000583225:exon4:c.30-2A>T;ENST00000581738:exon4:c.30-2A>T;ENST00000583280:exon4:c.30-2A>T;ENST00000578396:exon5:c.30-2A>T)	.	.	0.999314665464709	0.71
18	46860225	T	C	18	49333855	y	y	splicing	DYM(NM_017653:exon8:c.495-2A>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.495-2A>G;ENST00000584983:exon4:c.30-2A>G;ENST00000418472:exon7:c.217-2A>G;ENST00000583225:exon4:c.30-2A>G;ENST00000581738:exon4:c.30-2A>G;ENST00000583280:exon4:c.30-2A>G;ENST00000578396:exon5:c.30-2A>G)	.	.	0.999243362677927	0.702
18	46860225	T	G	18	49333855	y	y	splicing	DYM(NM_017653:exon8:c.495-2A>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon8:c.495-2A>C;ENST00000584983:exon4:c.30-2A>C;ENST00000418472:exon7:c.217-2A>C;ENST00000583225:exon4:c.30-2A>C;ENST00000581738:exon4:c.30-2A>C;ENST00000583280:exon4:c.30-2A>C;ENST00000578396:exon5:c.30-2A>C)	.	.	0.999243362677927	0.702
18	46860226	A	C	18	49333856	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.870172704409723	0.646
18	46860226	A	G	18	49333856	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.98793324996296E-5	0.006
18	46860226	A	T	18	49333856	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00209409224684193	0.094
18	46860227	A	C	18	49333857	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.66649817741988E-5	0.0
18	46860227	A	G	18	49333857	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.71067982217904E-5	0.0
18	46860227	A	T	18	49333857	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.29914600741065E-5	0.0
18	46860228	A	C	18	49333858	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0501938917590375	0.33
18	46860228	A	G	18	49333858	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.8398105133386E-4	0.03
18	46860228	A	T	18	49333858	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0159864230758325	0.302
18	46860229	A	C	18	49333859	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.997588802710059	0.97
18	46860229	A	G	18	49333859	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.79829767793127E-5	0.0
18	46860229	A	T	18	49333859	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.59258603079129E-4	0.038
18	46860230	T	A	18	49333860	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.18101770628721E-5	0.0
18	46860230	T	C	18	49333860	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.06341561599038E-6	0.0
18	46860230	T	G	18	49333860	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.64449337667505E-5	0.008
18	46860231	G	A	18	49333861	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.24105077085993E-5	0.0
18	46860231	G	C	18	49333861	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.17874093182443E-4	0.008
18	46860231	G	T	18	49333861	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.09629748300393E-5	0.03
18	46860232	G	A	18	49333862	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.06991407477597E-5	0.0
18	46860232	G	C	18	49333862	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.45158582217249E-4	0.026
18	46860232	G	T	18	49333862	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.58008182201279E-4	0.008
18	46860233	A	C	18	49333863	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.54311744713057E-4	0.052
18	46860233	A	G	18	49333863	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.14028331496085E-5	0.0
18	46860233	A	T	18	49333863	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.31684046534408E-4	0.048
18	46860234	A	C	18	49333864	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.97738534971854E-4	0.11
18	46860234	A	G	18	49333864	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.2824991251317E-4	0.028
18	46860234	A	T	18	49333864	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.09316392116486E-4	0.088
18	46860235	G	A	18	49333865	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.26848964498332E-5	0.0
18	46860235	G	C	18	49333865	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.03749722146904E-5	0.024
18	46860235	G	T	18	49333865	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.1851873516479E-5	0.002
18	46889523	G	A	18	49363153	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.30079923087448E-5	0.0
18	46889523	G	C	18	49363153	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.64376954311294E-5	0.034
18	46889523	G	T	18	49363153	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.19976148647956E-5	0.01
18	46889524	A	C	18	49363154	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.24519424407176E-5	0.008
18	46889524	A	G	18	49363154	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.24519424407176E-5	0.01
18	46889524	A	T	18	49363154	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.94358689379402E-4	0.002
18	46889525	A	C	18	49363155	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.925644920189012	0.694
18	46889525	A	G	18	49363155	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.97701297519822	0.73
18	46889525	A	T	18	49363155	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.987615149485293	0.666
18	46889526	C	A	18	49363156	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999954951082328	0.982
18	46889526	C	G	18	49363156	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999955908906257	0.962
18	46889526	C	T	18	49363156	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999966511867293	0.978
18	46889527	T	A	18	49363157	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.935721438965959	0.866
18	46889527	T	C	18	49363157	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.95988309194911	0.87
18	46889527	T	G	18	49363157	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.953795083869287	0.778
18	46889528	T	A	18	49363158	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.998731067029961	0.87
18	46889528	T	C	18	49363158	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0017703649231175	0.146
18	46889528	T	G	18	49363158	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.998715765022746	0.856
18	46889529	A	C	18	49363159	y	y	splicing	DYM(NM_017653:exon7:c.494+2T>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.494+2T>G;ENST00000584983:exon3:c.29+2T>G;ENST00000418472:exon6:c.216+2T>G;ENST00000583225:exon3:c.29+2T>G;ENST00000581738:exon3:c.29+2T>G;ENST00000583280:exon3:c.29+2T>G;ENST00000578396:exon4:c.29+2T>G)	.	.	0.999966203349492	0.94
18	46889529	A	G	18	49363159	y	y	splicing	DYM(NM_017653:exon7:c.494+2T>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.494+2T>C;ENST00000584983:exon3:c.29+2T>C;ENST00000418472:exon6:c.216+2T>C;ENST00000583225:exon3:c.29+2T>C;ENST00000581738:exon3:c.29+2T>C;ENST00000583280:exon3:c.29+2T>C;ENST00000578396:exon4:c.29+2T>C)	.	.	0.980131604906242	0.674
18	46889529	A	T	18	49363159	y	y	splicing	DYM(NM_017653:exon7:c.494+2T>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.494+2T>A;ENST00000584983:exon3:c.29+2T>A;ENST00000418472:exon6:c.216+2T>A;ENST00000583225:exon3:c.29+2T>A;ENST00000581738:exon3:c.29+2T>A;ENST00000583280:exon3:c.29+2T>A;ENST00000578396:exon4:c.29+2T>A)	.	.	0.999966203349492	0.93
18	46889530	C	A	18	49363160	y	y	splicing	DYM(NM_017653:exon7:c.494+1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.494+1G>T;ENST00000584983:exon3:c.29+1G>T;ENST00000418472:exon6:c.216+1G>T;ENST00000583225:exon3:c.29+1G>T;ENST00000581738:exon3:c.29+1G>T;ENST00000583280:exon3:c.29+1G>T;ENST00000578396:exon4:c.29+1G>T)	.	.	0.999967335026411	0.938
18	46889530	C	G	18	49363160	y	y	splicing	DYM(NM_017653:exon7:c.494+1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.494+1G>C;ENST00000584983:exon3:c.29+1G>C;ENST00000418472:exon6:c.216+1G>C;ENST00000583225:exon3:c.29+1G>C;ENST00000581738:exon3:c.29+1G>C;ENST00000583280:exon3:c.29+1G>C;ENST00000578396:exon4:c.29+1G>C)	.	.	0.999915710762489	0.938
18	46889530	C	T	18	49363160	y	y	splicing	DYM(NM_017653:exon7:c.494+1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.494+1G>A;ENST00000584983:exon3:c.29+1G>A;ENST00000418472:exon6:c.216+1G>A;ENST00000583225:exon3:c.29+1G>A;ENST00000581738:exon3:c.29+1G>A;ENST00000583280:exon3:c.29+1G>A;ENST00000578396:exon4:c.29+1G>A)	.	.	0.999967335026411	0.94
18	46889531	A	C	18	49363161	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon6:c.T494G:p.L165X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000583280:exon2:c.T29G:p.L10X;ENSG00000141627:ENST00000584983:exon2:c.T29G:p.L10X;ENSG00000141627:ENST00000578396:exon3:c.T29G:p.L10X;ENSG00000141627:ENST00000581738:exon2:c.T29G:p.L10X;ENSG00000141627:ENST00000583225:exon2:c.T29G:p.L10X;ENSG00000141627:ENST00000269445:exon6:c.T494G:p.L165X;	0.315586916808036	0.372
18	46889531	A	G	18	49363161	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon6:c.T494C:p.L165S;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon2:c.T29C:p.L10S;ENSG00000141627:ENST00000584983:exon2:c.T29C:p.L10S;ENSG00000141627:ENST00000578396:exon3:c.T29C:p.L10S;ENSG00000141627:ENST00000581738:exon2:c.T29C:p.L10S;ENSG00000141627:ENST00000583225:exon2:c.T29C:p.L10S;ENSG00000141627:ENST00000269445:exon6:c.T494C:p.L165S;	0.024814298279887	0.264
18	46889531	A	T	18	49363161	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon6:c.T494A:p.L165X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000583280:exon2:c.T29A:p.L10X;ENSG00000141627:ENST00000584983:exon2:c.T29A:p.L10X;ENSG00000141627:ENST00000578396:exon3:c.T29A:p.L10X;ENSG00000141627:ENST00000581738:exon2:c.T29A:p.L10X;ENSG00000141627:ENST00000583225:exon2:c.T29A:p.L10X;ENSG00000141627:ENST00000269445:exon6:c.T494A:p.L165X;	0.722072317031027	0.816
18	46889532	A	C	18	49363162	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon6:c.T493G:p.L165V;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon2:c.T28G:p.L10V;ENSG00000141627:ENST00000584983:exon2:c.T28G:p.L10V;ENSG00000141627:ENST00000578396:exon3:c.T28G:p.L10V;ENSG00000141627:ENST00000581738:exon2:c.T28G:p.L10V;ENSG00000141627:ENST00000583225:exon2:c.T28G:p.L10V;ENSG00000141627:ENST00000269445:exon6:c.T493G:p.L165V;	5.62272043823128E-4	0.086
18	46889532	A	G	18	49363162	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon6:c.T493C:p.L165L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon2:c.T28C:p.L10L;ENSG00000141627:ENST00000584983:exon2:c.T28C:p.L10L;ENSG00000141627:ENST00000578396:exon3:c.T28C:p.L10L;ENSG00000141627:ENST00000581738:exon2:c.T28C:p.L10L;ENSG00000141627:ENST00000583225:exon2:c.T28C:p.L10L;ENSG00000141627:ENST00000269445:exon6:c.T493C:p.L165L;	0.00108591962462844	0.028
18	46889532	A	T	18	49363162	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon6:c.T493A:p.L165I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583280:exon2:c.T28A:p.L10I;ENSG00000141627:ENST00000584983:exon2:c.T28A:p.L10I;ENSG00000141627:ENST00000578396:exon3:c.T28A:p.L10I;ENSG00000141627:ENST00000581738:exon2:c.T28A:p.L10I;ENSG00000141627:ENST00000583225:exon2:c.T28A:p.L10I;ENSG00000141627:ENST00000269445:exon6:c.T493A:p.L165I;	1.0435344472191E-4	0.19
18	46889533	G	A	18	49363163	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon6:c.C492T:p.L164L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon2:c.C27T:p.L9L;ENSG00000141627:ENST00000584983:exon2:c.C27T:p.L9L;ENSG00000141627:ENST00000578396:exon3:c.C27T:p.L9L;ENSG00000141627:ENST00000581738:exon2:c.C27T:p.L9L;ENSG00000141627:ENST00000583225:exon2:c.C27T:p.L9L;ENSG00000141627:ENST00000269445:exon6:c.C492T:p.L164L;	0.00561263551672402	0.16
18	46889533	G	C	18	49363163	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon6:c.C492G:p.L164L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon2:c.C27G:p.L9L;ENSG00000141627:ENST00000584983:exon2:c.C27G:p.L9L;ENSG00000141627:ENST00000578396:exon3:c.C27G:p.L9L;ENSG00000141627:ENST00000581738:exon2:c.C27G:p.L9L;ENSG00000141627:ENST00000583225:exon2:c.C27G:p.L9L;ENSG00000141627:ENST00000269445:exon6:c.C492G:p.L164L;	1.66072295384555E-4	0.048
18	46889533	G	T	18	49363163	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon6:c.C492A:p.L164L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583280:exon2:c.C27A:p.L9L;ENSG00000141627:ENST00000584983:exon2:c.C27A:p.L9L;ENSG00000141627:ENST00000578396:exon3:c.C27A:p.L9L;ENSG00000141627:ENST00000581738:exon2:c.C27A:p.L9L;ENSG00000141627:ENST00000583225:exon2:c.C27A:p.L9L;ENSG00000141627:ENST00000269445:exon6:c.C492A:p.L164L;	1.90152316382195E-4	0.032
18	46889602	A	C	18	49363232	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon6:c.T423G:p.S141R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon6:c.T423G:p.S141R;	0.00337211943879949	0.154
18	46889602	A	G	18	49363232	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon6:c.T423C:p.S141S;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000269445:exon6:c.T423C:p.S141S;	0.0289677941181938	0.19
18	46889602	A	T	18	49363232	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon6:c.T423A:p.S141R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon6:c.T423A:p.S141R;	0.0102762478093838	0.13
18	46889603	C	A	18	49363233	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon6:c.G422T:p.S141I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon6:c.G422T:p.S141I;	0.993333341055973	0.918
18	46889603	C	G	18	49363233	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon6:c.G422C:p.S141T;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon6:c.G422C:p.S141T;	0.775827820474833	0.552
18	46889603	C	T	18	49363233	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon6:c.G422A:p.S141N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon6:c.G422A:p.S141N;	0.565794129132714	0.59
18	46889604	C	A	18	49363234	y	y	splicing	DYM(NM_017653:exon7:c.422-1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.422-1G>T;ENST00000418472:exon6:c.144-1G>T)	.	.	0.999985532734767	0.928
18	46889604	C	G	18	49363234	y	y	splicing	DYM(NM_017653:exon7:c.422-1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.422-1G>C;ENST00000418472:exon6:c.144-1G>C)	.	.	0.999985532734767	0.938
18	46889604	C	T	18	49363234	y	y	splicing	DYM(NM_017653:exon7:c.422-1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.422-1G>A;ENST00000418472:exon6:c.144-1G>A)	.	.	0.999985532734767	0.936
18	46889605	T	A	18	49363235	y	y	splicing	DYM(NM_017653:exon7:c.422-2A>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.422-2A>T;ENST00000418472:exon6:c.144-2A>T)	.	.	0.999988247793601	0.926
18	46889605	T	C	18	49363235	y	y	splicing	DYM(NM_017653:exon7:c.422-2A>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.422-2A>G;ENST00000418472:exon6:c.144-2A>G)	.	.	0.999988247793601	0.926
18	46889605	T	G	18	49363235	y	y	splicing	DYM(NM_017653:exon7:c.422-2A>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon7:c.422-2A>C;ENST00000418472:exon6:c.144-2A>C)	.	.	0.999988247793601	0.926
18	46889606	G	A	18	49363236	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.96072321548557E-4	0.028
18	46889606	G	C	18	49363236	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999260815991345	0.944
18	46889606	G	T	18	49363236	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.233980070827452	0.43
18	46889607	G	A	18	49363237	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.69367423319238E-4	0.012
18	46889607	G	C	18	49363237	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.470134703581521	0.53
18	46889607	G	T	18	49363237	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.71147622844449E-4	0.002
18	46889608	T	A	18	49363238	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.35874188582731E-5	0.008
18	46889608	T	C	18	49363238	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.19829551084158E-4	0.01
18	46889608	T	G	18	49363238	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.63424153844124E-5	0.002
18	46889609	A	C	18	49363239	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0262942906636724	0.258
18	46889609	A	G	18	49363239	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.38807700153437E-5	0.006
18	46889609	A	T	18	49363239	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0185427344164168	0.194
18	46889610	A	C	18	49363240	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.237282484906713	0.2
18	46889610	A	G	18	49363240	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.10744084251054E-4	0.018
18	46889610	A	T	18	49363240	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.862011610865523	0.424
18	46889611	G	A	18	49363241	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.75401326739146E-5	0.01
18	46889611	G	C	18	49363241	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.43991479455851E-4	0.054
18	46889611	G	T	18	49363241	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00328485013317847	0.082
18	46889612	A	C	18	49363242	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.86864750696842	0.748
18	46889612	A	G	18	49363242	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00229483338643837	0.114
18	46889612	A	T	18	49363242	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.874677736364738	0.806
18	46889613	C	A	18	49363243	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.15838585953417E-4	0.008
18	46889613	C	G	18	49363243	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.40743879757589E-5	0.006
18	46889613	C	T	18	49363243	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.16199742798074E-4	0.02
18	46889614	A	C	18	49363244	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.980524375463989	0.818
18	46889614	A	G	18	49363244	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0819994906727086	0.266
18	46889614	A	T	18	49363244	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999818844244792	0.956
18	46889615	C	A	18	49363245	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.34113943595596E-4	0.008
18	46889615	C	G	18	49363245	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.00656204580755E-4	0.0
18	46889615	C	T	18	49363245	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.01949970856128E-4	0.028
18	46894964	G	A	18	49368594	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.99153316237132E-5	0.0
18	46894964	G	C	18	49368594	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.99153316237132E-5	0.0
18	46894964	G	T	18	49368594	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.99153316237132E-5	0.0
18	46894965	G	A	18	49368595	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.86431456331734E-5	0.0
18	46894965	G	C	18	49368595	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.86431456331734E-5	0.0
18	46894965	G	T	18	49368595	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.86431456331734E-5	0.0
18	46894966	G	A	18	49368596	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.64191646885158E-5	0.006
18	46894966	G	C	18	49368596	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.64191646885158E-5	0.006
18	46894966	G	T	18	49368596	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.64191646885158E-5	0.006
18	46894967	T	A	18	49368597	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.31929338280547E-5	0.004
18	46894967	T	C	18	49368597	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.07620641825897E-5	0.004
18	46894967	T	G	18	49368597	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.07620641825897E-5	0.004
18	46894968	T	A	18	49368598	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.07620641825897E-5	0.002
18	46894968	T	C	18	49368598	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.07620641825897E-5	0.002
18	46894968	T	G	18	49368598	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.07620641825897E-5	0.002
18	46894969	T	A	18	49368599	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.27145488438373E-5	0.004
18	46894969	T	C	18	49368599	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.17833868802641E-5	0.0
18	46894969	T	G	18	49368599	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.17833868802641E-5	0.0
18	46894970	A	C	18	49368600	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46894970	A	G	18	49368600	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46894970	A	T	18	49368600	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46894971	C	A	18	49368601	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	3.79815302939872E-5	0.0
18	46894971	C	G	18	49368601	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	3.79815302939872E-5	0.0
18	46894971	C	T	18	49368601	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	3.79815302939872E-5	0.0
18	46894972	C	A	18	49368602	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	5.84277354222336E-4	0.026
18	46894972	C	G	18	49368602	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	7.81165347420907E-4	0.086
18	46894972	C	T	18	49368602	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	5.84277354222336E-4	0.026
18	46894973	T	A	18	49368603	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.79361714119416E-4	0.002
18	46894973	T	C	18	49368603	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.79361714119416E-4	0.004
18	46894973	T	G	18	49368603	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.79361714119416E-4	0.004
18	46894974	C	A	18	49368604	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.1548255067557E-5	0.002
18	46894974	C	G	18	49368604	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.1548255067557E-5	0.002
18	46894974	C	T	18	49368604	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.32510510707312E-5	0.002
18	46894980	C	A	18	49368610	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.47543934380021E-5	0.0
18	46894980	C	G	18	49368610	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.47543934380021E-5	0.0
18	46894980	C	T	18	49368610	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.47543934380021E-5	0.0
18	46894981	T	A	18	49368611	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	3.87733132348539E-5	0.0
18	46894981	T	C	18	49368611	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.51018776879091E-5	0.0
18	46894981	T	G	18	49368611	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.51018776879091E-5	0.0
18	46894982	A	C	18	49368612	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.51018776879091E-5	0.0
18	46894982	A	G	18	49368612	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.51018776879091E-5	0.0
18	46894982	A	T	18	49368612	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	3.87733132348539E-5	0.0
18	46894983	C	A	18	49368613	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.47543934380021E-5	0.0
18	46894983	C	G	18	49368613	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.47543934380021E-5	0.0
18	46894983	C	T	18	49368613	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.47543934380021E-5	0.0
18	46894984	C	A	18	49368614	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.2384227091578E-5	0.002
18	46894984	C	G	18	49368614	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.2384227091578E-5	0.002
18	46894984	C	T	18	49368614	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.2384227091578E-5	0.006
18	46894985	T	A	18	49368615	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.25524929795369E-5	0.016
18	46894985	T	C	18	49368615	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.46004206284423E-5	0.0
18	46894985	T	G	18	49368615	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.46004206284423E-5	0.0
18	46894986	A	C	18	49368616	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	1.37501361942679E-5	0.0
18	46894986	A	G	18	49368616	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	1.37501361942679E-5	0.0
18	46894986	A	T	18	49368616	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	1.48367148474546E-5	0.0
18	46894987	C	A	18	49368617	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	6.270921211638E-5	0.016
18	46894987	C	G	18	49368617	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	6.270921211638E-5	0.006
18	46894987	C	T	18	49368617	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	4.68952365742707E-5	0.008
18	46894988	C	A	18	49368618	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.7749166663215E-5	0.028
18	46894988	C	G	18	49368618	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.7749166663215E-5	0.002
18	46894988	C	T	18	49368618	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	3.57076726553018E-5	0.0
18	46894989	G	A	18	49368619	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.87698428322107E-5	0.012
18	46894989	G	C	18	49368619	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.87698428322107E-5	0.014
18	46894989	G	T	18	49368619	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.87698428322107E-5	0.008
18	46894990	C	A	18	49368620	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.09450276291873E-4	0.004
18	46894990	C	G	18	49368620	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.09450276291873E-4	0.002
18	46894990	C	T	18	49368620	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.09450276291873E-4	0.008
18	46895034	C	A	18	49368664	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	8.71037690926497E-5	0.004
18	46895034	C	G	18	49368664	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	8.71037690926497E-5	0.008
18	46895034	C	T	18	49368664	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	8.71037690926497E-5	0.006
18	46895035	A	C	18	49368665	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.25437117408849E-5	0.0
18	46895035	A	G	18	49368665	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.25437117408849E-5	0.0
18	46895035	A	T	18	49368665	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.25437117408849E-5	0.0
18	46895036	G	A	18	49368666	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	5.5872545787408E-5	0.01
18	46895036	G	C	18	49368666	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	5.5872545787408E-5	0.006
18	46895036	G	T	18	49368666	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	5.5872545787408E-5	0.006
18	46895037	A	C	18	49368667	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	3.29786743479643E-5	0.028
18	46895037	A	G	18	49368667	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	3.29786743479643E-5	0.02
18	46895037	A	T	18	49368667	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	3.29786743479643E-5	0.02
18	46895038	G	A	18	49368668	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.65388135286213E-5	0.006
18	46895038	G	C	18	49368668	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.71811775086873E-5	0.012
18	46895038	G	T	18	49368668	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.71811775086873E-5	0.004
18	46895039	A	C	18	49368669	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.256915070725E-5	0.0
18	46895039	A	G	18	49368669	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.256915070725E-5	0.0
18	46895039	A	T	18	49368669	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.256915070725E-5	0.0
18	46895040	A	C	18	49368670	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	1.67738868662274E-5	0.006
18	46895040	A	G	18	49368670	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	1.67738868662274E-5	0.006
18	46895040	A	T	18	49368670	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	1.67738868662274E-5	0.006
18	46895041	C	A	18	49368671	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	9.72760553213487E-5	0.0
18	46895041	C	G	18	49368671	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	9.72760553213487E-5	0.0
18	46895041	C	T	18	49368671	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	9.72760553213487E-5	0.002
18	46895042	C	A	18	49368672	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.00675832680685E-4	0.008
18	46895042	C	G	18	49368672	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.00675832680685E-4	0.0
18	46895042	C	T	18	49368672	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	7.52881759733747E-5	0.0
18	46895043	T	A	18	49368673	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.24975915077222E-5	0.0
18	46895043	T	C	18	49368673	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.1020973109669E-5	0.0
18	46895043	T	G	18	49368673	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.1020973109669E-5	0.0
18	46895044	G	A	18	49368674	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.68952365742707E-5	0.004
18	46895044	G	C	18	49368674	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.68952365742707E-5	0.004
18	46895044	G	T	18	49368674	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.68952365742707E-5	0.004
18	46902010	A	C	18	49375640	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.002
18	46902010	A	G	18	49375640	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.002
18	46902010	A	T	18	49375640	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.002
18	46902011	A	C	18	49375641	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.4720228130805E-5	0.044
18	46902011	A	G	18	49375641	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.4720228130805E-5	0.044
18	46902011	A	T	18	49375641	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.77346097862455E-4	0.05
18	46902012	T	A	18	49375642	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.13503796622452E-5	0.0
18	46902012	T	C	18	49375642	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.13503796622452E-5	0.0
18	46902012	T	G	18	49375642	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.13503796622452E-5	0.0
18	46902013	A	C	18	49375643	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.57123356397867E-5	0.018
18	46902013	A	G	18	49375643	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.57123356397867E-5	0.02
18	46902013	A	T	18	49375643	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.57123356397867E-5	0.018
18	46902014	A	C	18	49375644	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.30338091304305E-5	0.0
18	46902014	A	G	18	49375644	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.30338091304305E-5	0.0
18	46902014	A	T	18	49375644	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.30338091304305E-5	0.0
18	46902015	T	A	18	49375645	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46902015	T	C	18	49375645	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46902015	T	G	18	49375645	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0288925866825E-5	0.002
18	46902016	A	C	18	49375646	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	9.57123356397867E-5	0.016
18	46902016	A	G	18	49375646	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	9.57123356397867E-5	0.016
18	46902016	A	T	18	49375646	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.27163650926202E-4	0.024
18	46902017	C	A	18	49375647	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902017	C	G	18	49375647	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902017	C	T	18	49375647	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902018	C	A	18	49375648	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.68219155180855E-5	0.002
18	46902018	C	G	18	49375648	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.68219155180855E-5	0.002
18	46902018	C	T	18	49375648	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.68219155180855E-5	0.002
18	46902019	T	A	18	49375649	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.97816655078712E-4	0.054
18	46902019	T	C	18	49375649	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.97816655078712E-4	0.05
18	46902019	T	G	18	49375649	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.97816655078712E-4	0.05
18	46902020	G	A	18	49375650	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	8.90177193295887E-6	0.002
18	46902020	G	C	18	49375650	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	8.90177193295887E-6	0.002
18	46902020	G	T	18	49375650	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	8.90177193295887E-6	0.002
18	46902093	G	A	18	49375723	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902093	G	C	18	49375723	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902093	G	T	18	49375723	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902094	T	A	18	49375724	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	3.78864525412067E-5	0.004
18	46902094	T	C	18	49375724	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902094	T	G	18	49375724	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902095	C	A	18	49375725	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	9.57123356397867E-5	0.01
18	46902095	C	G	18	49375725	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	9.57123356397867E-5	0.01
18	46902095	C	T	18	49375725	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	9.57123356397867E-5	0.01
18	46902096	T	A	18	49375726	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.89484418870929E-5	0.008
18	46902096	T	C	18	49375726	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.68284073685752E-5	0.004
18	46902096	T	G	18	49375726	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	2.68284073685752E-5	0.004
18	46902097	G	A	18	49375727	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902097	G	C	18	49375727	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902097	G	T	18	49375727	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902098	T	A	18	49375728	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.68284073685752E-5	0.004
18	46902098	T	C	18	49375728	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.73686617846189E-5	0.004
18	46902098	T	G	18	49375728	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.73686617846189E-5	0.004
18	46902099	G	A	18	49375729	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902099	G	C	18	49375729	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902099	G	T	18	49375729	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902100	A	C	18	49375730	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.73686617846189E-5	0.004
18	46902100	A	G	18	49375730	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.73686617846189E-5	0.004
18	46902100	A	T	18	49375730	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.68284073685752E-5	0.004
18	46902101	G	A	18	49375731	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902101	G	C	18	49375731	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902101	G	T	18	49375731	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902102	G	A	18	49375732	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902102	G	C	18	49375732	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902102	G	T	18	49375732	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.19654958573966E-5	0.02
18	46902103	G	A	18	49375733	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.57123356397867E-5	0.01
18	46902103	G	C	18	49375733	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.57123356397867E-5	0.016
18	46902103	G	T	18	49375733	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.57123356397867E-5	0.01
18	46902104	T	A	18	49375734	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.89484418870929E-5	0.008
18	46902104	T	C	18	49375734	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.68284073685752E-5	0.004
18	46902104	T	G	18	49375734	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.68284073685752E-5	0.004
18	46902105	G	A	18	49375735	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902105	G	C	18	49375735	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902105	G	T	18	49375735	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.45277156108894E-5	0.0
18	46902106	T	A	18	49375736	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.78864525412067E-5	0.0
18	46902106	T	C	18	49375736	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.78864525412067E-5	0.0
18	46902106	T	G	18	49375736	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.78864525412067E-5	0.0
18	46904929	A	C	18	49378559	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.24963503613943E-4	0.0
18	46904929	A	G	18	49378559	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.96111647664073E-5	0.0
18	46904929	A	T	18	49378559	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.08713002498981E-4	0.002
18	46904930	T	A	18	49378560	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.64779689282939E-4	0.084
18	46904930	T	C	18	49378560	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.64779689282939E-4	0.092
18	46904930	T	G	18	49378560	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.64779689282939E-4	0.11
18	46904931	A	C	18	49378561	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.992762582400769	0.882
18	46904931	A	G	18	49378561	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.954883304483322	0.806
18	46904931	A	T	18	49378561	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.966682071001456	0.656
18	46904932	C	A	18	49378562	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999964838163808	0.948
18	46904932	C	G	18	49378562	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999977062471337	1.0
18	46904932	C	T	18	49378562	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999966283025426	0.944
18	46904933	T	A	18	49378563	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.949751807493686	0.714
18	46904933	T	C	18	49378563	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.984180407100442	0.818
18	46904933	T	G	18	49378563	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.808648258062636	0.57
18	46904934	T	A	18	49378564	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999492817335327	0.864
18	46904934	T	C	18	49378564	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00759665032396114	0.15
18	46904934	T	G	18	49378564	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99983532086002	0.946
18	46904935	A	C	18	49378565	y	y	splicing	DYM(NM_017653:exon6:c.421+2T>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.421+2T>G;ENST00000418472:exon5:c.143+2T>G)	.	.	0.999989917668626	0.924
18	46904935	A	G	18	49378565	y	y	splicing	DYM(NM_017653:exon6:c.421+2T>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.421+2T>C;ENST00000418472:exon5:c.143+2T>C)	.	.	0.990751351621101	0.602
18	46904935	A	T	18	49378565	y	y	splicing	DYM(NM_017653:exon6:c.421+2T>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.421+2T>A;ENST00000418472:exon5:c.143+2T>A)	.	.	0.999989917668626	0.926
18	46904936	C	A	18	49378566	y	y	splicing	DYM(NM_017653:exon6:c.421+1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.421+1G>T;ENST00000418472:exon5:c.143+1G>T)	.	.	0.999986675681007	0.932
18	46904936	C	G	18	49378566	y	y	splicing	DYM(NM_017653:exon6:c.421+1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.421+1G>C;ENST00000418472:exon5:c.143+1G>C)	.	.	0.999986675681007	0.932
18	46904936	C	T	18	49378566	y	y	splicing	DYM(NM_017653:exon6:c.421+1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.421+1G>A;ENST00000418472:exon5:c.143+1G>A)	.	.	0.999986675681007	0.932
18	46904937	T	A	18	49378567	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.A421T:p.S141C;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon5:c.A421T:p.S141C;	0.0334494998721851	0.13
18	46904937	T	C	18	49378567	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.A421G:p.S141G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon5:c.A421G:p.S141G;	7.72256598764541E-4	0.072
18	46904937	T	G	18	49378567	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.A421C:p.S141R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon5:c.A421C:p.S141R;	0.00118838199072077	0.014
18	46904938	G	A	18	49378568	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon5:c.C420T:p.Y140Y;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000269445:exon5:c.C420T:p.Y140Y;	0.0011043775715159	0.036
18	46904938	G	C	18	49378568	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon5:c.C420G:p.Y140X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000269445:exon5:c.C420G:p.Y140X;	0.00596679560423251	0.44
18	46904938	G	T	18	49378568	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon5:c.C420A:p.Y140X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000269445:exon5:c.C420A:p.Y140X;	0.00175058676971032	0.49
18	46904939	T	A	18	49378569	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.A419T:p.Y140F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon5:c.A419T:p.Y140F;	0.0503935580777576	0.19
18	46904939	T	C	18	49378569	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.A419G:p.Y140C;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon5:c.A419G:p.Y140C;	0.00370787319127452	0.066
18	46904939	T	G	18	49378569	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.A419C:p.Y140S;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000269445:exon5:c.A419C:p.Y140S;	0.00741297269667967	0.112
18	46905069	G	A	18	49378699	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.C289T:p.H97Y;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon5:c.C289T:p.H97Y;ENSG00000141627:ENST00000418472:exon4:c.C11T:p.P4L;ENSG00000141627:ENST00000269445:exon5:c.C289T:p.H97Y;	0.0208769754726635	0.076
18	46905069	G	C	18	49378699	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.C289G:p.H97D;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon5:c.C289G:p.H97D;ENSG00000141627:ENST00000418472:exon4:c.C11G:p.P4R;ENSG00000141627:ENST00000269445:exon5:c.C289G:p.H97D;	0.00510320433563982	0.052
18	46905069	G	T	18	49378699	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.C289A:p.H97N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon5:c.C289A:p.H97N;ENSG00000141627:ENST00000418472:exon4:c.C11A:p.P4Q;ENSG00000141627:ENST00000269445:exon5:c.C289A:p.H97N;	0.0510734363576724	0.082
18	46905070	G	A	18	49378700	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon5:c.C288T:p.N96N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000418472:exon4:c.C10T:p.P4S;	0.0544193309656808	0.37
18	46905070	G	C	18	49378700	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.C288G:p.N96K;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon5:c.C288G:p.N96K;ENSG00000141627:ENST00000418472:exon4:c.C10G:p.P4A;ENSG00000141627:ENST00000269445:exon5:c.C288G:p.N96K;	0.00124197240905507	0.124
18	46905070	G	T	18	49378700	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon5:c.C288A:p.N96K;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon5:c.C288A:p.N96K;ENSG00000141627:ENST00000418472:exon4:c.C10A:p.P4T;ENSG00000141627:ENST00000269445:exon5:c.C288A:p.N96K;	7.14113162567855E-4	0.012
18	46905071	C	A	18	49378701	y	y	splicing	DYM(NM_017653:exon6:c.288-1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.288-1G>T;ENST00000418472:exon5:c.10-1G>T;ENST00000579058:exon8:c.509-1G>T;ENST00000583353:exon6:c.288-1G>T)	.	.	0.999986675681007	0.954
18	46905071	C	G	18	49378701	y	y	splicing	DYM(NM_017653:exon6:c.288-1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.288-1G>C;ENST00000418472:exon5:c.10-1G>C;ENST00000579058:exon8:c.509-1G>C;ENST00000583353:exon6:c.288-1G>C)	.	.	0.999986675681007	0.954
18	46905071	C	T	18	49378701	y	y	splicing	DYM(NM_017653:exon6:c.288-1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.288-1G>A;ENST00000418472:exon5:c.10-1G>A;ENST00000579058:exon8:c.509-1G>A;ENST00000583353:exon6:c.288-1G>A)	.	.	0.999986675681007	0.954
18	46905072	T	A	18	49378702	y	y	splicing	DYM(NM_017653:exon6:c.288-2A>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.288-2A>T;ENST00000418472:exon5:c.10-2A>T;ENST00000579058:exon8:c.509-2A>T;ENST00000583353:exon6:c.288-2A>T)	.	.	0.999989917668626	0.942
18	46905072	T	C	18	49378702	y	y	splicing	DYM(NM_017653:exon6:c.288-2A>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.288-2A>G;ENST00000418472:exon5:c.10-2A>G;ENST00000579058:exon8:c.509-2A>G;ENST00000583353:exon6:c.288-2A>G)	.	.	0.999989917668626	0.942
18	46905072	T	G	18	49378702	y	y	splicing	DYM(NM_017653:exon6:c.288-2A>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon6:c.288-2A>C;ENST00000418472:exon5:c.10-2A>C;ENST00000579058:exon8:c.509-2A>C;ENST00000583353:exon6:c.288-2A>C)	.	.	0.999989917668626	0.942
18	46905073	A	C	18	49378703	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.987343120131806	0.688
18	46905073	A	G	18	49378703	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.3486387394498E-4	0.184
18	46905073	A	T	18	49378703	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00795144195096275	0.238
18	46905074	G	A	18	49378704	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.52535826114257E-5	0.0
18	46905074	G	C	18	49378704	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.6250656578821E-5	0.004
18	46905074	G	T	18	49378704	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.18566194784381E-5	0.004
18	46905075	A	C	18	49378705	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.962023914822301	0.714
18	46905075	A	G	18	49378705	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.031504538194749	0.264
18	46905075	A	T	18	49378705	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.92382753338077	0.698
18	46905076	A	C	18	49378706	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.311857423477623	0.562
18	46905076	A	G	18	49378706	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.83454420929371E-4	0.096
18	46905076	A	T	18	49378706	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.325910343300885	0.536
18	46905077	A	C	18	49378707	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0158446911450358	0.19
18	46905077	A	G	18	49378707	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.67954657781408E-4	0.124
18	46905077	A	T	18	49378707	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.444495915683304	0.418
18	46905078	G	A	18	49378708	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.70883192320336E-5	0.01
18	46905078	G	C	18	49378708	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.28234794960763E-4	0.044
18	46905078	G	T	18	49378708	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0020315835347645	0.126
18	46905079	A	C	18	49378709	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.968930954306899	0.714
18	46905079	A	G	18	49378709	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00950489078594196	0.066
18	46905079	A	T	18	49378709	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.974412752865173	0.782
18	46905080	C	A	18	49378710	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.04454252070676E-4	0.12
18	46905080	C	G	18	49378710	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.80014261516827E-5	0.06
18	46905080	C	T	18	49378710	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.77337951467382E-4	0.174
18	46905081	C	A	18	49378711	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.93130793452497E-4	0.208
18	46905081	C	G	18	49378711	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.80893541566026E-4	0.19
18	46905081	C	T	18	49378711	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999977995016422	0.932
18	46905082	A	C	18	49378712	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.674660321473511	0.452
18	46905082	A	G	18	49378712	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.24824744110352E-4	0.082
18	46905082	A	T	18	49378712	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999985229701913	0.888
18	46906027	C	A	18	49379657	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.5731710659594E-5	0.022
18	46906027	C	G	18	49379657	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.97813223407332E-5	0.0
18	46906027	C	T	18	49379657	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0862360857953E-4	0.0
18	46906028	A	C	18	49379658	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.28642710417491E-5	0.0
18	46906028	A	G	18	49379658	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.10297328946878E-5	0.0
18	46906028	A	T	18	49379658	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.10136406077024E-5	0.0
18	46906029	G	A	18	49379659	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.18849968857336E-4	0.032
18	46906029	G	C	18	49379659	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.06326238705359E-4	0.142
18	46906029	G	T	18	49379659	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00184224191628296	0.22
18	46906030	C	A	18	49379660	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999972169847784	0.99
18	46906030	C	G	18	49379660	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99997972769278	0.994
18	46906030	C	T	18	49379660	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999961859184958	1.0
18	46906031	T	A	18	49379661	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.998518671793835	0.94
18	46906031	T	C	18	49379661	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99854641584938	0.982
18	46906031	T	G	18	49379661	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.995748092619144	0.862
18	46906032	T	A	18	49379662	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999803344021048	0.976
18	46906032	T	C	18	49379662	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.9748911098864	0.61
18	46906032	T	G	18	49379662	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999699276800198	0.966
18	46906033	A	C	18	49379663	y	y	splicing	DYM(NM_017653:exon5:c.287+2T>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.287+2T>G;ENST00000418472:exon4:c.9+2T>G;ENST00000579058:exon7:c.508+2T>G;ENST00000583353:exon5:c.287+2T>G)	.	.	0.999989917668626	0.946
18	46906033	A	G	18	49379663	y	y	splicing	DYM(NM_017653:exon5:c.287+2T>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.287+2T>C;ENST00000418472:exon4:c.9+2T>C;ENST00000579058:exon7:c.508+2T>C;ENST00000583353:exon5:c.287+2T>C)	.	.	0.993179459523591	0.636
18	46906033	A	T	18	49379663	y	y	splicing	DYM(NM_017653:exon5:c.287+2T>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.287+2T>A;ENST00000418472:exon4:c.9+2T>A;ENST00000579058:exon7:c.508+2T>A;ENST00000583353:exon5:c.287+2T>A)	.	.	0.999989917668626	0.946
18	46906034	C	A	18	49379664	y	y	splicing	DYM(NM_017653:exon5:c.287+1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.287+1G>T;ENST00000418472:exon4:c.9+1G>T;ENST00000579058:exon7:c.508+1G>T;ENST00000583353:exon5:c.287+1G>T)	.	.	0.999981760802075	0.948
18	46906034	C	G	18	49379664	y	y	splicing	DYM(NM_017653:exon5:c.287+1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.287+1G>C;ENST00000418472:exon4:c.9+1G>C;ENST00000579058:exon7:c.508+1G>C;ENST00000583353:exon5:c.287+1G>C)	.	.	0.999981760802075	0.948
18	46906034	C	T	18	49379664	y	y	splicing	DYM(NM_017653:exon5:c.287+1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.287+1G>A;ENST00000418472:exon4:c.9+1G>A;ENST00000579058:exon7:c.508+1G>A;ENST00000583353:exon5:c.287+1G>A)	.	.	0.999981760802075	0.948
18	46906035	T	A	18	49379665	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.A287T:p.N96I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.A287T:p.N96I;ENSG00000141627:ENST00000418472:exon3:c.A9T:p.E3D;ENSG00000141627:ENST00000269445:exon4:c.A287T:p.N96I;	0.109322376301228	0.336
18	46906035	T	C	18	49379665	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.A287G:p.N96S;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.A287G:p.N96S;ENSG00000141627:ENST00000269445:exon4:c.A287G:p.N96S;	0.00606604394338007	0.108
18	46906035	T	G	18	49379665	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.A287C:p.N96T;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.A287C:p.N96T;ENSG00000141627:ENST00000418472:exon3:c.A9C:p.E3D;ENSG00000141627:ENST00000269445:exon4:c.A287C:p.N96T;	0.149141990743451	0.394
18	46906036	T	A	18	49379666	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.A286T:p.N96Y;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.A286T:p.N96Y;ENSG00000141627:ENST00000418472:exon3:c.A8T:p.E3V;ENSG00000141627:ENST00000269445:exon4:c.A286T:p.N96Y;	0.996715660877272	0.81
18	46906036	T	C	18	49379666	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.A286G:p.N96D;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.A286G:p.N96D;ENSG00000141627:ENST00000418472:exon3:c.A8G:p.E3G;ENSG00000141627:ENST00000269445:exon4:c.A286G:p.N96D;	0.994448733289175	0.882
18	46906036	T	G	18	49379666	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.A286C:p.N96H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.A286C:p.N96H;ENSG00000141627:ENST00000418472:exon3:c.A8C:p.E3A;ENSG00000141627:ENST00000269445:exon4:c.A286C:p.N96H;	0.986475311747191	0.768
18	46906037	C	A	18	49379667	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.G285T:p.Q95H;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000418472:exon3:c.G7T:p.E3X;	0.471748088514093	0.354
18	46906037	C	G	18	49379667	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.G285C:p.Q95H;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.G285C:p.Q95H;ENSG00000141627:ENST00000418472:exon3:c.G7C:p.E3Q;ENSG00000141627:ENST00000269445:exon4:c.G285C:p.Q95H;	3.20272537902193E-4	0.012
18	46906037	C	T	18	49379667	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon4:c.G285A:p.Q95Q;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000418472:exon3:c.G7A:p.E3K;	2.04244196695566E-4	0.0
18	46906127	A	C	18	49379757	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon4:c.T195G:p.V65V;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.T195G:p.V65V;ENSG00000141627:ENST00000269445:exon4:c.T195G:p.V65V;	0.00118931191682601	0.014
18	46906127	A	G	18	49379757	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon4:c.T195C:p.V65V;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.T195C:p.V65V;ENSG00000141627:ENST00000269445:exon4:c.T195C:p.V65V;	9.52651151710473E-4	0.028
18	46906127	A	T	18	49379757	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon4:c.T195A:p.V65V;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.T195A:p.V65V;ENSG00000141627:ENST00000269445:exon4:c.T195A:p.V65V;	0.00582071408908655	0.13
18	46906128	A	C	18	49379758	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.T194G:p.V65G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.T194G:p.V65G;ENSG00000141627:ENST00000269445:exon4:c.T194G:p.V65G;	0.0166328410001712	0.282
18	46906128	A	G	18	49379758	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.T194C:p.V65A;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.T194C:p.V65A;ENSG00000141627:ENST00000269445:exon4:c.T194C:p.V65A;	0.203795960235881	0.45
18	46906128	A	T	18	49379758	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon4:c.T194A:p.V65D;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon4:c.T194A:p.V65D;ENSG00000141627:ENST00000269445:exon4:c.T194A:p.V65D;	0.0220698008409439	0.426
18	46906129	C	A	18	49379759	y	y	splicing	DYM(NM_017653:exon5:c.194-1G>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.194-1G>T;ENST00000579058:exon7:c.415-1G>T;ENST00000583353:exon5:c.194-1G>T)	.	.	0.999985532734767	0.936
18	46906129	C	G	18	49379759	y	y	splicing	DYM(NM_017653:exon5:c.194-1G>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.194-1G>C;ENST00000579058:exon7:c.415-1G>C;ENST00000583353:exon5:c.194-1G>C)	.	.	0.999985532734767	0.936
18	46906129	C	T	18	49379759	y	y	splicing	DYM(NM_017653:exon5:c.194-1G>A)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.194-1G>A;ENST00000579058:exon7:c.415-1G>A;ENST00000583353:exon5:c.194-1G>A)	.	.	0.999985532734767	0.936
18	46906130	T	A	18	49379760	y	y	splicing	DYM(NM_017653:exon5:c.194-2A>T)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.194-2A>T;ENST00000579058:exon7:c.415-2A>T;ENST00000583353:exon5:c.194-2A>T)	.	.	0.999988247793601	0.928
18	46906130	T	C	18	49379760	y	y	splicing	DYM(NM_017653:exon5:c.194-2A>G)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.194-2A>G;ENST00000579058:exon7:c.415-2A>G;ENST00000583353:exon5:c.194-2A>G)	.	.	0.999988247793601	0.928
18	46906130	T	G	18	49379760	y	y	splicing	DYM(NM_017653:exon5:c.194-2A>C)	.	.	splicing	ENSG00000141627(ENST00000269445:exon5:c.194-2A>C;ENST00000579058:exon7:c.415-2A>C;ENST00000583353:exon5:c.194-2A>C)	.	.	0.999988247793601	0.928
18	46906131	G	A	18	49379761	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.118787663013025	0.192
18	46906131	G	C	18	49379761	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999831225977259	0.97
18	46906131	G	T	18	49379761	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.995543166801685	0.788
18	46906132	C	A	18	49379762	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.05693217135755E-5	0.0
18	46906132	C	G	18	49379762	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.3515981172181E-5	0.0
18	46906132	C	T	18	49379762	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.48092402830895E-5	0.002
18	46906133	A	C	18	49379763	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0091655369425282	0.15
18	46906133	A	G	18	49379763	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00117657259429673	0.01
18	46906133	A	T	18	49379763	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999773028552382	0.964
18	46906134	A	C	18	49379764	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0328909824473401	0.2
18	46906134	A	G	18	49379764	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00246610019222133	0.042
18	46906134	A	T	18	49379764	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0323219453428022	0.16
18	46906135	G	A	18	49379765	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.2053649720701E-4	0.01
18	46906135	G	C	18	49379765	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00150439180145051	0.138
18	46906135	G	T	18	49379765	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00107700447982649	0.15
18	46906136	A	C	18	49379766	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.02705213112461E-4	0.06
18	46906136	A	G	18	49379766	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.10377975169453E-4	0.014
18	46906136	A	T	18	49379766	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00630476871014891	0.098
18	46906137	G	A	18	49379767	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.6512264344482E-5	0.054
18	46906137	G	C	18	49379767	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.84993895068948E-4	0.064
18	46906137	G	T	18	49379767	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00101974759303165	0.056
18	46906138	A	C	18	49379768	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.056420138480945	0.244
18	46906138	A	G	18	49379768	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00567960326933352	0.026
18	46906138	A	T	18	49379768	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0328762486135986	0.224
18	46906139	A	C	18	49379769	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.623218383403648	0.464
18	46906139	A	G	18	49379769	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.398536847127624	0.316
18	46906139	A	T	18	49379769	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.799367299170601	0.534
18	46906140	G	A	18	49379770	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.37288068638559E-5	0.002
18	46906140	G	C	18	49379770	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00100597114028642	0.018
18	46906140	G	T	18	49379770	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00256607422468822	0.036
18	46917955	C	A	18	49391585	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.57076726553018E-5	0.0
18	46917955	C	G	18	49391585	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.57076726553018E-5	0.0
18	46917955	C	T	18	49391585	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.57076726553018E-5	0.0
18	46917956	C	A	18	49391586	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.52881759733747E-5	0.0
18	46917956	C	G	18	49391586	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.52881759733747E-5	0.0
18	46917956	C	T	18	49391586	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.30945796578933E-5	0.0
18	46917957	A	C	18	49391587	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.23469011368816E-5	0.014
18	46917957	A	G	18	49391587	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.14273947036398E-4	0.016
18	46917957	A	T	18	49391587	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.50521469065101E-4	0.018
18	46917958	C	A	18	49391588	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.869383289484072	0.506
18	46917958	C	G	18	49391588	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.959367824322476	0.598
18	46917958	C	T	18	49391588	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.915730462667334	0.678
18	46917959	T	A	18	49391589	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.217965113897147	0.39
18	46917959	T	C	18	49391589	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.427454924387506	0.406
18	46917959	T	G	18	49391589	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.194678872124568	0.412
18	46917960	T	A	18	49391590	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.944768707144931	0.616
18	46917960	T	C	18	49391590	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00511481894081842	0.118
18	46917960	T	G	18	49391590	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.798422332147755	0.544
18	46917961	A	C	18	49391591	y	y	splicing	DYM(NM_017653:exon4:c.193+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.193+2T>G;ENST00000269445:exon4:c.193+2T>G;ENST00000579058:exon6:c.414+2T>G;ENST00000583353:exon4:c.193+2T>G)	.	.	0.999969255906173	0.844
18	46917961	A	G	18	49391591	y	y	splicing	DYM(NM_017653:exon4:c.193+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.193+2T>C;ENST00000269445:exon4:c.193+2T>C;ENST00000579058:exon6:c.414+2T>C;ENST00000583353:exon4:c.193+2T>C)	.	.	0.956014472702541	0.586
18	46917961	A	T	18	49391591	y	y	splicing	DYM(NM_017653:exon4:c.193+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.193+2T>A;ENST00000269445:exon4:c.193+2T>A;ENST00000579058:exon6:c.414+2T>A;ENST00000583353:exon4:c.193+2T>A)	.	.	0.999969255906173	0.86
18	46917962	C	A	18	49391592	y	y	splicing	DYM(NM_017653:exon4:c.193+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.193+1G>T;ENST00000269445:exon4:c.193+1G>T;ENST00000579058:exon6:c.414+1G>T;ENST00000583353:exon4:c.193+1G>T)	.	.	0.999981332798982	0.744
18	46917962	C	G	18	49391592	y	y	splicing	DYM(NM_017653:exon4:c.193+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.193+1G>C;ENST00000269445:exon4:c.193+1G>C;ENST00000579058:exon6:c.414+1G>C;ENST00000583353:exon4:c.193+1G>C)	.	.	0.999985250677267	0.758
18	46917962	C	T	18	49391592	y	y	splicing	DYM(NM_017653:exon4:c.193+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.193+1G>A;ENST00000269445:exon4:c.193+1G>A;ENST00000579058:exon6:c.414+1G>A;ENST00000583353:exon4:c.193+1G>A)	.	.	0.999981332798982	0.76
18	46917963	C	A	18	49391593	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.G193T:p.V65F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.G193T:p.V65F;ENSG00000141627:ENST00000442713:exon3:c.G193T:p.A65S;ENSG00000141627:ENST00000269445:exon3:c.G193T:p.V65F;	0.91146106940067	0.804
18	46917963	C	G	18	49391593	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.G193C:p.V65L;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.G193C:p.V65L;ENSG00000141627:ENST00000442713:exon3:c.G193C:p.A65P;ENSG00000141627:ENST00000269445:exon3:c.G193C:p.V65L;	0.881968144349031	0.542
18	46917963	C	T	18	49391593	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.G193A:p.V65I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.G193A:p.V65I;ENSG00000141627:ENST00000442713:exon3:c.G193A:p.A65T;ENSG00000141627:ENST00000269445:exon3:c.G193A:p.V65I;	0.644693653596674	0.404
18	46917964	T	A	18	49391594	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.A192T:p.L64F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.A192T:p.L64F;ENSG00000141627:ENST00000442713:exon3:c.A192T:p.L64F;ENSG00000141627:ENST00000269445:exon3:c.A192T:p.L64F;	0.0563653571625234	0.362
18	46917964	T	C	18	49391594	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon3:c.A192G:p.L64L;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.A192G:p.L64L;ENSG00000141627:ENST00000442713:exon3:c.A192G:p.L64L;ENSG00000141627:ENST00000269445:exon3:c.A192G:p.L64L;	0.0583595986368219	0.264
18	46917964	T	G	18	49391594	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.A192C:p.L64F;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.A192C:p.L64F;ENSG00000141627:ENST00000442713:exon3:c.A192C:p.L64F;ENSG00000141627:ENST00000269445:exon3:c.A192C:p.L64F;	0.0624072856251889	0.38
18	46917965	A	C	18	49391595	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon3:c.T191G:p.L64X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000583353:exon3:c.T191G:p.L64X;ENSG00000141627:ENST00000442713:exon3:c.T191G:p.L64X;ENSG00000141627:ENST00000269445:exon3:c.T191G:p.L64X;	0.0136050551546212	0.026
18	46917965	A	G	18	49391595	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.T191C:p.L64S;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.T191C:p.L64S;ENSG00000141627:ENST00000442713:exon3:c.T191C:p.L64S;ENSG00000141627:ENST00000269445:exon3:c.T191C:p.L64S;	4.80011303770032E-4	0.016
18	46917965	A	T	18	49391595	y	y	exonic	DYM	stopgain SNV	DYM:NM_017653:exon3:c.T191A:p.L64X;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000583353:exon3:c.T191A:p.L64X;ENSG00000141627:ENST00000442713:exon3:c.T191A:p.L64X;ENSG00000141627:ENST00000269445:exon3:c.T191A:p.L64X;	0.00416763851947794	0.044
18	46918014	T	A	18	49391644	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.A142T:p.S48C;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.A142T:p.S48C;ENSG00000141627:ENST00000442713:exon3:c.A142T:p.S48C;ENSG00000141627:ENST00000269445:exon3:c.A142T:p.S48C;	8.90000360838312E-5	0.006
18	46918014	T	C	18	49391644	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.A142G:p.S48G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.A142G:p.S48G;ENSG00000141627:ENST00000442713:exon3:c.A142G:p.S48G;ENSG00000141627:ENST00000269445:exon3:c.A142G:p.S48G;	6.75560808792992E-5	0.0
18	46918014	T	G	18	49391644	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.A142C:p.S48R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.A142C:p.S48R;ENSG00000141627:ENST00000442713:exon3:c.A142C:p.S48R;ENSG00000141627:ENST00000269445:exon3:c.A142C:p.S48R;	3.73610466096456E-5	0.002
18	46918015	A	C	18	49391645	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.T141G:p.S47R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.T141G:p.S47R;ENSG00000141627:ENST00000442713:exon3:c.T141G:p.S47R;ENSG00000141627:ENST00000269445:exon3:c.T141G:p.S47R;	6.32271029673572E-5	0.082
18	46918015	A	G	18	49391645	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon3:c.T141C:p.S47S;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.T141C:p.S47S;ENSG00000141627:ENST00000442713:exon3:c.T141C:p.S47S;ENSG00000141627:ENST00000269445:exon3:c.T141C:p.S47S;	1.9466101701796E-5	0.0
18	46918015	A	T	18	49391645	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon3:c.T141A:p.S47R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon3:c.T141A:p.S47R;ENSG00000141627:ENST00000442713:exon3:c.T141A:p.S47R;ENSG00000141627:ENST00000269445:exon3:c.T141A:p.S47R;	7.02863587682817E-6	0.0
18	46918016	C	A	18	49391646	y	y	splicing	DYM(NM_017653:exon4:c.141-1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.141-1G>T;ENST00000269445:exon4:c.141-1G>T;ENST00000579058:exon6:c.362-1G>T;ENST00000583353:exon4:c.141-1G>T)	.	.	0.99996748057446	0.902
18	46918016	C	G	18	49391646	y	y	splicing	DYM(NM_017653:exon4:c.141-1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.141-1G>C;ENST00000269445:exon4:c.141-1G>C;ENST00000579058:exon6:c.362-1G>C;ENST00000583353:exon4:c.141-1G>C)	.	.	0.999968430223941	0.862
18	46918016	C	T	18	49391646	y	y	splicing	DYM(NM_017653:exon4:c.141-1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.141-1G>A;ENST00000269445:exon4:c.141-1G>A;ENST00000579058:exon6:c.362-1G>A;ENST00000583353:exon4:c.141-1G>A)	.	.	0.99996748057446	0.904
18	46918017	T	A	18	49391647	y	y	splicing	DYM(NM_017653:exon4:c.141-2A>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.141-2A>T;ENST00000269445:exon4:c.141-2A>T;ENST00000579058:exon6:c.362-2A>T;ENST00000583353:exon4:c.141-2A>T)	.	.	0.999971317418422	0.886
18	46918017	T	C	18	49391647	y	y	splicing	DYM(NM_017653:exon4:c.141-2A>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.141-2A>G;ENST00000269445:exon4:c.141-2A>G;ENST00000579058:exon6:c.362-2A>G;ENST00000583353:exon4:c.141-2A>G)	.	.	0.999972155025474	0.862
18	46918017	T	G	18	49391647	y	y	splicing	DYM(NM_017653:exon4:c.141-2A>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon4:c.141-2A>C;ENST00000269445:exon4:c.141-2A>C;ENST00000579058:exon6:c.362-2A>C;ENST00000583353:exon4:c.141-2A>C)	.	.	0.999972155025474	0.858
18	46918018	G	A	18	49391648	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.15124052367356E-4	0.002
18	46918018	G	C	18	49391648	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.981895661699111	0.65
18	46918018	G	T	18	49391648	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.160099196435586	0.256
18	46918019	G	A	18	49391649	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.1645802687607E-5	0.0
18	46918019	G	C	18	49391649	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.03926677311539E-5	0.0
18	46918019	G	T	18	49391649	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.84403353066938E-5	0.0
18	46918020	A	C	18	49391650	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.170745069394566	0.384
18	46918020	A	G	18	49391650	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00199806377552323	0.072
18	46918020	A	T	18	49391650	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.160224416447678	0.402
18	46918021	G	A	18	49391651	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.65631204167732E-5	0.0
18	46918021	G	C	18	49391651	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00191332002596795	0.114
18	46918021	G	T	18	49391651	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00264442489399	0.13
18	46918022	A	C	18	49391652	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0123948884786455	0.106
18	46918022	A	G	18	49391652	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.78303333280953E-4	0.006
18	46918022	A	T	18	49391652	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0282948974989407	0.14
18	46918023	G	A	18	49391653	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.26754850597571E-5	0.008
18	46918023	G	C	18	49391653	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00191618740620209	0.058
18	46918023	G	T	18	49391653	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00957478272910961	0.078
18	46918024	A	C	18	49391654	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0193564973500731	0.192
18	46918024	A	G	18	49391654	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00730403025888634	0.038
18	46918024	A	T	18	49391654	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.03762828272925	0.212
18	46918025	C	A	18	49391655	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.56418135863487E-5	0.0
18	46918025	C	G	18	49391655	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.88531483760495E-5	0.0
18	46918025	C	T	18	49391655	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.23500364990093E-4	0.0
18	46918026	A	C	18	49391656	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.775119556792147	0.64
18	46918026	A	G	18	49391656	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.203047116121988	0.3
18	46918026	A	T	18	49391656	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99997051956036	0.98
18	46918027	G	A	18	49391657	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	9.71751630006908E-5	0.0
18	46918027	G	C	18	49391657	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.23248562982859E-4	0.02
18	46918027	G	T	18	49391657	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.11044847902033E-4	0.04
18	46920111	G	A	18	49393741	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	6.7395485643605E-5	0.008
18	46920111	G	C	18	49393741	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920111	G	T	18	49393741	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	2.83935518155002E-5	0.002
18	46920112	C	A	18	49393742	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	2.83935518155002E-5	0.0
18	46920112	C	G	18	49393742	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920112	C	T	18	49393742	n	y	intronic	DYM	.	.	UTR3	ENSG00000141627	.	.	5.9149404486172E-5	0.006
18	46920113	C	A	18	49393743	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon5:c.264-1G>T)	.	.	9.16029726566022E-5	0.0
18	46920113	C	G	18	49393743	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon5:c.264-1G>C)	.	.	9.16029726566022E-5	0.0
18	46920113	C	T	18	49393743	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon5:c.264-1G>A)	.	.	9.16029726566022E-5	0.0
18	46920114	T	A	18	49393744	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon5:c.264-2A>T)	.	.	9.16029726566022E-5	0.0
18	46920114	T	C	18	49393744	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon5:c.264-2A>G)	.	.	9.16029726566022E-5	0.0
18	46920114	T	G	18	49393744	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon5:c.264-2A>C)	.	.	9.16029726566022E-5	0.0
18	46920115	A	C	18	49393745	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920115	A	G	18	49393745	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920115	A	T	18	49393745	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.83935518155002E-5	0.002
18	46920116	A	C	18	49393746	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920116	A	G	18	49393746	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920116	A	T	18	49393746	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.83935518155002E-5	0.0
18	46920117	G	A	18	49393747	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920117	G	C	18	49393747	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.70357316916945E-5	0.002
18	46920117	G	T	18	49393747	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920118	C	A	18	49393748	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.70357316916945E-5	0.0
18	46920118	C	G	18	49393748	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.70357316916945E-5	0.0
18	46920118	C	T	18	49393748	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920119	A	C	18	49393749	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920119	A	G	18	49393749	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920119	A	T	18	49393749	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920120	A	C	18	49393750	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920120	A	G	18	49393750	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920120	A	T	18	49393750	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920121	C	A	18	49393751	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920121	C	G	18	49393751	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920121	C	T	18	49393751	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.83935518155002E-5	0.0
18	46920122	A	C	18	49393752	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.83935518155002E-5	0.004
18	46920122	A	G	18	49393752	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.83935518155002E-5	0.004
18	46920122	A	T	18	49393752	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.7395485643605E-5	0.006
18	46920123	A	C	18	49393753	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.83935518155002E-5	0.0
18	46920123	A	G	18	49393753	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920123	A	T	18	49393753	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.7395485643605E-5	0.01
18	46920124	G	A	18	49393754	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46920124	G	C	18	49393754	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.70357316916945E-5	0.002
18	46920124	G	T	18	49393754	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.63141535133926E-5	0.0
18	46938267	C	A	18	49411897	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.26424982550682E-5	0.0
18	46938267	C	G	18	49411897	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.26424982550682E-5	0.0
18	46938267	C	T	18	49411897	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.26424982550682E-5	0.0
18	46938268	C	A	18	49411898	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.32964398316374E-5	0.0
18	46938268	C	G	18	49411898	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.32964398316374E-5	0.01
18	46938268	C	T	18	49411898	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.59846007660086E-5	0.0
18	46938269	C	A	18	49411899	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.01778320779704E-4	0.03
18	46938269	C	G	18	49411899	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.01778320779704E-4	0.03
18	46938269	C	T	18	49411899	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.01778320779704E-4	0.03
18	46938270	C	A	18	49411900	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.00709079715909E-4	0.082
18	46938270	C	G	18	49411900	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.00709079715909E-4	0.066
18	46938270	C	T	18	49411900	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.53130396586044E-5	0.058
18	46938271	T	A	18	49411901	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.89925739660516E-5	0.004
18	46938271	T	C	18	49411901	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.78205327723092E-5	0.006
18	46938271	T	G	18	49411901	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.89925739660516E-5	0.006
18	46938272	T	A	18	49411902	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.85096237301136E-5	0.004
18	46938272	T	C	18	49411902	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.85096237301136E-5	0.004
18	46938272	T	G	18	49411902	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.85096237301136E-5	0.004
18	46938273	A	C	18	49411903	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	6.19764423687035E-4	0.02
18	46938273	A	G	18	49411903	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	6.19764423687035E-4	0.02
18	46938273	A	T	18	49411903	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	4.34284565890754E-4	0.024
18	46938274	C	A	18	49411904	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	6.5908222467397E-5	0.002
18	46938274	C	G	18	49411904	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	5.58469164784009E-5	0.002
18	46938274	C	T	18	49411904	n	y	intronic	DYM	.	.	splicing	ENSG00000141627	.	.	6.5908222467397E-5	0.002
18	46938275	C	A	18	49411905	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.73401366462724E-4	0.002
18	46938275	C	G	18	49411905	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.23244617478918E-4	0.0
18	46938275	C	T	18	49411905	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	1.75275693303219E-4	0.006
18	46938276	T	A	18	49411906	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	0.00558396200177998	0.038
18	46938276	T	C	18	49411906	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	0.00644508547513173	0.04
18	46938276	T	G	18	49411906	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	0.00644508547513173	0.04
18	46938277	T	A	18	49411907	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.22368055298326E-4	0.01
18	46938277	T	C	18	49411907	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.22368055298326E-4	0.074
18	46938277	T	G	18	49411907	n	y	intronic	DYM	.	.	UTR5	ENSG00000141627	.	.	4.22368055298326E-4	0.074
18	46944426	G	A	18	49418056	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000579058:exon3:c.C142T:p.Q48X;	3.21003527317923E-4	0.012
18	46944426	G	C	18	49418056	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000579058:exon3:c.C142G:p.Q48E;	3.32651317629065E-5	0.014
18	46944426	G	T	18	49418056	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000579058:exon3:c.C142A:p.Q48K;	7.89582339735063E-5	0.02
18	46944427	T	A	18	49418057	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000579058:exon3:c.A141T:p.R47S;	4.62829891511816E-5	0.002
18	46944427	T	C	18	49418057	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000579058:exon3:c.A141G:p.R47R;	2.60742385600787E-5	0.01
18	46944427	T	G	18	49418057	n	y	intronic	DYM	.	.	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000579058:exon3:c.A141C:p.R47S;	4.62829891511816E-5	0.008
18	46944428	C	A	18	49418058	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon4:c.141-1G>T)	.	.	5.90468307674474E-5	0.01
18	46944428	C	G	18	49418058	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon4:c.141-1G>C)	.	.	5.90468307674474E-5	0.006
18	46944428	C	T	18	49418058	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon4:c.141-1G>A)	.	.	1.0731844778051E-4	0.006
18	46944429	T	A	18	49418059	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon4:c.141-2A>T)	.	.	6.16694999061511E-5	0.0
18	46944429	T	C	18	49418059	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon4:c.141-2A>G)	.	.	8.24652302699114E-5	0.008
18	46944429	T	G	18	49418059	n	y	intronic	DYM	.	.	splicing	ENSG00000141627(ENST00000579058:exon4:c.141-2A>C)	.	.	8.24652302699114E-5	0.01
18	46944430	G	A	18	49418060	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.46004206284423E-5	0.0
18	46944430	G	C	18	49418060	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.46004206284423E-5	0.0
18	46944430	G	T	18	49418060	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.46004206284423E-5	0.0
18	46944431	A	C	18	49418061	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.39429174022201E-5	0.0
18	46944431	A	G	18	49418061	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.39429174022201E-5	0.0
18	46944431	A	T	18	49418061	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.39429174022201E-5	0.0
18	46944432	A	C	18	49418062	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.39429174022201E-5	0.0
18	46944432	A	G	18	49418062	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.39429174022201E-5	0.0
18	46944432	A	T	18	49418062	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.39429174022201E-5	0.0
18	46944433	A	C	18	49418063	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.60742385600787E-5	0.008
18	46944433	A	G	18	49418063	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.60742385600787E-5	0.008
18	46944433	A	T	18	49418063	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.60742385600787E-5	0.008
18	46944434	A	C	18	49418064	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.60742385600787E-5	0.008
18	46944434	A	G	18	49418064	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.60742385600787E-5	0.008
18	46944434	A	T	18	49418064	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.60742385600787E-5	0.008
18	46944435	A	C	18	49418065	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.14267203131726E-5	0.0
18	46944435	A	G	18	49418065	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.14267203131726E-5	0.0
18	46944435	A	T	18	49418065	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.76502774581184E-5	0.002
18	46944436	A	C	18	49418066	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.62829891511816E-5	0.002
18	46944436	A	G	18	49418066	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.62829891511816E-5	0.002
18	46944436	A	T	18	49418066	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.62829891511816E-5	0.006
18	46944437	A	C	18	49418067	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.62829891511816E-5	0.002
18	46944437	A	G	18	49418067	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.62829891511816E-5	0.002
18	46944437	A	T	18	49418067	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.62829891511816E-5	0.006
18	46944438	A	C	18	49418068	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0156267805256E-4	0.006
18	46944438	A	G	18	49418068	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0156267805256E-4	0.006
18	46944438	A	T	18	49418068	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.59514004916459E-5	0.002
18	46944439	A	C	18	49418069	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0156267805256E-4	0.006
18	46944439	A	G	18	49418069	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.0156267805256E-4	0.006
18	46944439	A	T	18	49418069	n	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.59514004916459E-5	0.002
18	46956617	T	A	18	49430247	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.37687621806476E-5	0.002
18	46956617	T	C	18	49430247	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.17755023493609E-5	0.002
18	46956617	T	G	18	49430247	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.61048606997799E-4	0.006
18	46956618	C	A	18	49430248	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.20710012090933E-5	0.0
18	46956618	C	G	18	49430248	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.1011603121178E-5	0.0
18	46956618	C	T	18	49430248	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.65412522142449E-5	0.0
18	46956619	T	A	18	49430249	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.96991727975318E-5	0.004
18	46956619	T	C	18	49430249	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.03994880629916E-4	0.004
18	46956619	T	G	18	49430249	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00509140094310787	0.036
18	46956620	C	A	18	49430250	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.937016460330656	0.62
18	46956620	C	G	18	49430250	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.865324190439708	0.7
18	46956620	C	T	18	49430250	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.982406157425988	0.748
18	46956621	T	A	18	49430251	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.488756819330062	0.316
18	46956621	T	C	18	49430251	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.323369203816212	0.352
18	46956621	T	G	18	49430251	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.319603757365956	0.288
18	46956622	T	A	18	49430252	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999367794904713	0.946
18	46956622	T	C	18	49430252	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.990701796478521	0.618
18	46956622	T	G	18	49430252	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.99899797527988	0.966
18	46956623	A	C	18	49430253	y	y	splicing	DYM(NM_017653:exon3:c.140+2T>G)	.	.	splicing	ENSG00000141627(ENST00000442713:exon3:c.140+2T>G;ENST00000269445:exon3:c.140+2T>G;ENST00000579058:exon3:c.140+2T>G;ENST00000583353:exon3:c.140+2T>G)	.	.	0.999988247793601	0.932
18	46956623	A	G	18	49430253	y	y	splicing	DYM(NM_017653:exon3:c.140+2T>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon3:c.140+2T>C;ENST00000269445:exon3:c.140+2T>C;ENST00000579058:exon3:c.140+2T>C;ENST00000583353:exon3:c.140+2T>C)	.	.	0.995320650369382	0.708
18	46956623	A	T	18	49430253	y	y	splicing	DYM(NM_017653:exon3:c.140+2T>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon3:c.140+2T>A;ENST00000269445:exon3:c.140+2T>A;ENST00000579058:exon3:c.140+2T>A;ENST00000583353:exon3:c.140+2T>A)	.	.	0.999988247793601	0.932
18	46956624	C	A	18	49430254	y	y	splicing	DYM(NM_017653:exon3:c.140+1G>T)	.	.	splicing	ENSG00000141627(ENST00000442713:exon3:c.140+1G>T;ENST00000269445:exon3:c.140+1G>T;ENST00000579058:exon3:c.140+1G>T;ENST00000583353:exon3:c.140+1G>T)	.	.	0.999990361384395	0.938
18	46956624	C	G	18	49430254	y	y	splicing	DYM(NM_017653:exon3:c.140+1G>C)	.	.	splicing	ENSG00000141627(ENST00000442713:exon3:c.140+1G>C;ENST00000269445:exon3:c.140+1G>C;ENST00000579058:exon3:c.140+1G>C;ENST00000583353:exon3:c.140+1G>C)	.	.	0.999990361384395	0.938
18	46956624	C	T	18	49430254	y	y	splicing	DYM(NM_017653:exon3:c.140+1G>A)	.	.	splicing	ENSG00000141627(ENST00000442713:exon3:c.140+1G>A;ENST00000269445:exon3:c.140+1G>A;ENST00000579058:exon3:c.140+1G>A;ENST00000583353:exon3:c.140+1G>A)	.	.	0.999990361384395	0.938
18	46956625	C	A	18	49430255	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon2:c.G140T:p.S47I;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon2:c.G140T:p.S47I;ENSG00000141627:ENST00000442713:exon2:c.G140T:p.S47I;ENSG00000141627:ENST00000269445:exon2:c.G140T:p.S47I;ENSG00000141627:ENST00000579058:exon2:c.G140T:p.R47I;	0.999977221971513	0.97
18	46956625	C	G	18	49430255	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon2:c.G140C:p.S47T;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon2:c.G140C:p.S47T;ENSG00000141627:ENST00000442713:exon2:c.G140C:p.S47T;ENSG00000141627:ENST00000269445:exon2:c.G140C:p.S47T;ENSG00000141627:ENST00000579058:exon2:c.G140C:p.R47T;	0.999976244681454	0.952
18	46956625	C	T	18	49430255	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon2:c.G140A:p.S47N;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon2:c.G140A:p.S47N;ENSG00000141627:ENST00000442713:exon2:c.G140A:p.S47N;ENSG00000141627:ENST00000269445:exon2:c.G140A:p.S47N;ENSG00000141627:ENST00000579058:exon2:c.G140A:p.R47K;	0.999975077521143	0.984
18	46956626	T	A	18	49430256	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon2:c.A139T:p.S47C;	exonic	ENSG00000141627	stopgain SNV	ENSG00000141627:ENST00000579058:exon2:c.A139T:p.R47X;	0.997858640613731	0.784
18	46956626	T	C	18	49430256	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon2:c.A139G:p.S47G;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon2:c.A139G:p.S47G;ENSG00000141627:ENST00000442713:exon2:c.A139G:p.S47G;ENSG00000141627:ENST00000269445:exon2:c.A139G:p.S47G;ENSG00000141627:ENST00000579058:exon2:c.A139G:p.R47G;	0.985079026517041	0.956
18	46956626	T	G	18	49430256	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon2:c.A139C:p.S47R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon2:c.A139C:p.S47R;ENSG00000141627:ENST00000442713:exon2:c.A139C:p.S47R;ENSG00000141627:ENST00000269445:exon2:c.A139C:p.S47R;	0.980869814438218	0.81
18	46956627	G	A	18	49430257	y	y	exonic	DYM	synonymous SNV	DYM:NM_017653:exon2:c.C138T:p.S46S;	exonic	ENSG00000141627	synonymous SNV	ENSG00000141627:ENST00000583353:exon2:c.C138T:p.S46S;ENSG00000141627:ENST00000442713:exon2:c.C138T:p.S46S;ENSG00000141627:ENST00000269445:exon2:c.C138T:p.S46S;ENSG00000141627:ENST00000579058:exon2:c.C138T:p.S46S;	0.837176476984281	0.472
18	46956627	G	C	18	49430257	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon2:c.C138G:p.S46R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon2:c.C138G:p.S46R;ENSG00000141627:ENST00000442713:exon2:c.C138G:p.S46R;ENSG00000141627:ENST00000269445:exon2:c.C138G:p.S46R;ENSG00000141627:ENST00000579058:exon2:c.C138G:p.S46R;	0.0119894690340625	0.206
18	46956627	G	T	18	49430257	y	y	exonic	DYM	nonsynonymous SNV	DYM:NM_017653:exon2:c.C138A:p.S46R;	exonic	ENSG00000141627	nonsynonymous SNV	ENSG00000141627:ENST00000583353:exon2:c.C138A:p.S46R;ENSG00000141627:ENST00000442713:exon2:c.C138A:p.S46R;ENSG00000141627:ENST00000269445:exon2:c.C138A:p.S46R;ENSG00000141627:ENST00000579058:exon2:c.C138A:p.S46R;	0.0752523312928878	0.296
18	46956816	A	C	18	49430446	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	3.81984273673759E-5	0.026
18	46956816	A	G	18	49430446	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	6.95985984800625E-5	0.032
18	46956816	A	T	18	49430446	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	9.31124174379851E-5	0.024
18	46956817	C	A	18	49430447	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.150049792860541	0.378
18	46956817	C	G	18	49430447	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.00533300156596707	0.12
18	46956817	C	T	18	49430447	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	5.37645692517294E-4	0.096
18	46956818	C	A	18	49430448	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999983806599646	0.764
18	46956818	C	G	18	49430448	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999987205282477	0.774
18	46956818	C	T	18	49430448	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999983806599646	0.758
18	46956819	T	A	18	49430449	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999941977319723	0.76
18	46956819	T	C	18	49430449	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999941977319723	0.76
18	46956819	T	G	18	49430449	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999941977319723	0.76
18	46956820	A	C	18	49430450	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.395356792469509	0.4
18	46956820	A	G	18	49430450	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.7274949484355E-5	0.002
18	46956820	A	T	18	49430450	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.11639617337059E-5	0.022
18	46956821	T	A	18	49430451	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.21188296001776E-5	0.028
18	46956821	T	C	18	49430451	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.01645821644838E-5	0.036
18	46956821	T	G	18	49430451	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.60720789519046E-5	0.06
18	46956822	A	C	18	49430452	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.8984734172303E-4	0.254
18	46956822	A	G	18	49430452	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.22808592712281E-4	0.06
18	46956822	A	T	18	49430452	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.28443867164475E-4	0.244
18	46956823	A	C	18	49430453	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.35181281097473E-4	0.116
18	46956823	A	G	18	49430453	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.07353089647722E-5	0.02
18	46956823	A	T	18	49430453	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.13541434288729E-5	0.06
18	46956824	A	C	18	49430454	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.9155401365282E-5	0.002
18	46956824	A	G	18	49430454	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.30158239458366E-5	0.002
18	46956824	A	T	18	49430454	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.98010643215541E-5	0.002
18	46956825	A	C	18	49430455	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.44826378272222E-5	0.046
18	46956825	A	G	18	49430455	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.98726388497872E-5	0.016
18	46956825	A	T	18	49430455	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.4604021867395E-5	0.052
18	46956826	A	C	18	49430456	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	8.48297501442899E-5	0.25
18	46956826	A	G	18	49430456	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.08907429006354E-5	0.044
18	46956826	A	T	18	49430456	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.86906890899741E-5	0.22
18	46956827	A	C	18	49430457	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.988886660883201	0.9
18	46956827	A	G	18	49430457	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	4.69872477298228E-5	0.056
18	46956827	A	T	18	49430457	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	7.06952838122749E-5	0.132
18	46956828	T	A	18	49430458	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.3679381758247E-5	0.076
18	46956828	T	C	18	49430458	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	3.04784069990347E-5	0.0
18	46956828	T	G	18	49430458	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	2.59994022064722E-5	0.0
18	46956829	A	C	18	49430459	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.30624290329733E-4	0.078
18	46956829	A	G	18	49430459	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	6.18720022397414E-5	0.016
18	46956829	A	T	18	49430459	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	1.54232230280497E-4	0.064
18	46986760	C	A	18	49460390	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.00320091894056966	0.094
18	46986760	C	G	18	49460390	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	5.48764399440187E-4	0.094
18	46986760	C	T	18	49460390	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0120866915261974	0.084
18	46986761	A	C	18	49460391	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.460920087631268	0.64
18	46986761	A	G	18	49460391	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.469081160138251	0.614
18	46986761	A	T	18	49460391	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.735316293716831	0.718
18	46986762	G	A	18	49460392	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0278332969468788	0.132
18	46986762	G	C	18	49460392	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.0212529540289177	0.184
18	46986762	G	T	18	49460392	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.106734597228472	0.27
18	46986763	C	A	18	49460393	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999992544071751	0.952
18	46986763	C	G	18	49460393	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999805308276157	0.974
18	46986763	C	T	18	49460393	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999873834392209	0.982
18	46986764	C	A	18	49460394	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.941973995345214	0.658
18	46986764	C	G	18	49460394	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.936122114937715	0.688
18	46986764	C	T	18	49460394	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.863917744457261	0.392
18	46986765	C	A	18	49460395	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999783718493554	0.948
18	46986765	C	G	18	49460395	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.999824028401646	0.958
18	46986765	C	T	18	49460395	y	y	intronic	DYM	.	.	intronic	ENSG00000141627	.	.	0.92182591135667	0.55
18	46986766	A	C	18	49460396	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999989917668626	0.946
18	46986766	A	G	18	49460396	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999927254940125	0.882
18	46986766	A	T	18	49460396	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999989917668626	0.946
18	46986767	C	A	18	49460397	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999986675681007	0.956
18	46986767	C	G	18	49460397	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999986675681007	0.956
18	46986767	C	T	18	49460397	y	y	splicing	DYM	.	.	splicing	ENSG00000141627	.	.	0.999986675681007	0.956
18	46986768	C	A	18	49460398	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.999983718302808	1.0
18	46986768	C	G	18	49460398	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.999996998452377	1.0
18	46986768	C	T	18	49460398	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.999994664418714	1.0
18	46986769	T	A	18	49460399	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.999846035568917	0.992
18	46986769	T	C	18	49460399	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.999795077345662	0.99
18	46986769	T	G	18	49460399	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.999724140556056	0.988
18	46986770	G	A	18	49460400	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.989162438740848	0.86
18	46986770	G	C	18	49460400	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.100320382614686	0.244
18	46986770	G	T	18	49460400	y	y	UTR5	DYM	.	.	UTR5	ENSG00000141627	.	.	0.00448466297029786	0.09
18	46987538	A	C	18	49461168	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	1.17955633684246E-4	0.078
18	46987538	A	G	18	49461168	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	1.17955633684246E-4	0.078
18	46987538	A	T	18	49461168	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	1.17955633684246E-4	0.076
18	46987539	A	C	18	49461169	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	5.33555818487574E-5	0.002
18	46987539	A	G	18	49461169	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	5.33555818487574E-5	0.002
18	46987539	A	T	18	49461169	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	5.33555818487574E-5	0.0
18	46987540	C	A	18	49461170	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	2.6499595348242E-5	0.008
18	46987540	C	G	18	49461170	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	2.6499595348242E-5	0.006
18	46987540	C	T	18	49461170	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	1.98167606144793E-5	0.014
18	46987541	C	A	18	49461171	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	2.87597986263776E-5	0.008
18	46987541	C	G	18	49461171	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	1.21161612834329E-5	0.0
18	46987541	C	T	18	49461171	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	5.24642887656211E-5	0.006
18	46987542	T	A	18	49461172	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	5.33555818487574E-5	0.002
18	46987542	T	C	18	49461172	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	5.33555818487574E-5	0.004
18	46987542	T	G	18	49461172	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	5.33555818487574E-5	0.004
18	46987543	C	A	18	49461173	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	4.53913066192799E-5	0.008
18	46987543	C	G	18	49461173	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	1.0482661884663E-5	0.004
18	46987543	C	T	18	49461173	n	y	upstream	DYM	.	.	intronic	ENSG00000141627	.	.	4.53913066192799E-5	0.006
18	46987544	A	C	18	49461174	n	y	upstream	DYM	.	.	splicing	ENSG00000141627	.	.	1.29901505916903E-4	0.022
18	46987544	A	G	18	49461174	n	y	upstream	DYM	.	.	splicing	ENSG00000141627	.	.	1.29901505916903E-4	0.022
18	46987544	A	T	18	49461174	n	y	upstream	DYM	.	.	splicing	ENSG00000141627	.	.	5.92209988256002E-5	0.022
18	46987545	C	A	18	49461175	n	y	upstream	DYM	.	.	splicing	ENSG00000141627	.	.	3.39444029628577E-5	0.0
18	46987545	C	G	18	49461175	n	y	upstream	DYM	.	.	splicing	ENSG00000141627	.	.	3.39444029628577E-5	0.014
18	46987545	C	T	18	49461175	n	y	upstream	DYM	.	.	splicing	ENSG00000141627	.	.	3.39444029628577E-5	0.0
18	46987546	C	A	18	49461176	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	3.39444029628577E-5	0.0
18	46987546	C	G	18	49461176	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	3.39444029628577E-5	0.002
18	46987546	C	T	18	49461176	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	3.39444029628577E-5	0.002
18	46987547	T	A	18	49461177	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	1.07029775409605E-4	0.002
18	46987547	T	C	18	49461177	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	9.69749738150332E-5	0.002
18	46987547	T	G	18	49461177	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	9.69749738150332E-5	0.002
18	46987548	G	A	18	49461178	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	3.92337711406789E-5	0.002
18	46987548	G	C	18	49461178	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	5.24642887656211E-5	0.008
18	46987548	G	T	18	49461178	n	y	upstream	DYM	.	.	UTR5	ENSG00000141627	.	.	5.24642887656211E-5	0.036
18	47008779	C	A	18	49482409	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon3:c.G167T:p.G56V;C18orf32:NM_001199346:exon3:c.G167T:p.G56V;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon3:c.G167T:p.G56V;ENSG00000177576:ENST00000582392:exon3:c.G167T:p.G56V;ENSG00000177576:ENST00000579820:exon3:c.G167T:p.G56V;	4.49590975244286E-6	0.012
18	47008779	C	G	18	49482409	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon3:c.G167C:p.G56A;C18orf32:NM_001199346:exon3:c.G167C:p.G56A;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon3:c.G167C:p.G56A;ENSG00000177576:ENST00000582392:exon3:c.G167C:p.G56A;ENSG00000177576:ENST00000579820:exon3:c.G167C:p.G56A;	5.10241733284059E-5	0.024
18	47008779	C	T	18	49482409	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon3:c.G167A:p.G56D;C18orf32:NM_001199346:exon3:c.G167A:p.G56D;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon3:c.G167A:p.G56D;ENSG00000177576:ENST00000582392:exon3:c.G167A:p.G56D;ENSG00000177576:ENST00000579820:exon3:c.G167A:p.G56D;	1.99933145392765E-5	0.032
18	47008780	C	A	18	49482410	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon3:c.G166T:p.G56C;C18orf32:NM_001199346:exon3:c.G166T:p.G56C;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon3:c.G166T:p.G56C;ENSG00000177576:ENST00000582392:exon3:c.G166T:p.G56C;ENSG00000177576:ENST00000579820:exon3:c.G166T:p.G56C;	0.393377699070166	0.546
18	47008780	C	G	18	49482410	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon3:c.G166C:p.G56R;C18orf32:NM_001199346:exon3:c.G166C:p.G56R;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon3:c.G166C:p.G56R;ENSG00000177576:ENST00000582392:exon3:c.G166C:p.G56R;ENSG00000177576:ENST00000579820:exon3:c.G166C:p.G56R;	0.0657222626254131	0.426
18	47008780	C	T	18	49482410	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon3:c.G166A:p.G56S;C18orf32:NM_001199346:exon3:c.G166A:p.G56S;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon3:c.G166A:p.G56S;ENSG00000177576:ENST00000582392:exon3:c.G166A:p.G56S;ENSG00000177576:ENST00000579820:exon3:c.G166A:p.G56S;	0.0218010703156199	0.236
18	47008781	C	A	18	49482411	y	y	splicing	C18orf32(NM_001199346:exon4:c.166-1G>T;NM_001035005:exon4:c.166-1G>T);RPL17-C18orf32(NM_001199355:exon8:c.696-1G>T;NM_001199356:exon8:c.582-1G>T)	.	.	splicing	ENSG00000177576(ENST00000579820:exon4:c.166-1G>T;ENST00000318240:exon4:c.166-1G>T;ENST00000582392:exon4:c.166-1G>T);ENSG00000215472(ENST00000584895:exon8:c.696-1G>T;ENST00000332968:exon7:c.582-1G>T;ENST00000577910:exon9:c.763-1G>T)	.	.	0.99993314117114	0.94
18	47008781	C	G	18	49482411	y	y	splicing	C18orf32(NM_001199346:exon4:c.166-1G>C;NM_001035005:exon4:c.166-1G>C);RPL17-C18orf32(NM_001199355:exon8:c.696-1G>C;NM_001199356:exon8:c.582-1G>C)	.	.	splicing	ENSG00000177576(ENST00000579820:exon4:c.166-1G>C;ENST00000318240:exon4:c.166-1G>C;ENST00000582392:exon4:c.166-1G>C);ENSG00000215472(ENST00000584895:exon8:c.696-1G>C;ENST00000332968:exon7:c.582-1G>C;ENST00000577910:exon9:c.763-1G>C)	.	.	0.99993314117114	0.944
18	47008781	C	T	18	49482411	y	y	splicing	C18orf32(NM_001199346:exon4:c.166-1G>A;NM_001035005:exon4:c.166-1G>A);RPL17-C18orf32(NM_001199355:exon8:c.696-1G>A;NM_001199356:exon8:c.582-1G>A)	.	.	splicing	ENSG00000177576(ENST00000579820:exon4:c.166-1G>A;ENST00000318240:exon4:c.166-1G>A;ENST00000582392:exon4:c.166-1G>A);ENSG00000215472(ENST00000584895:exon8:c.696-1G>A;ENST00000332968:exon7:c.582-1G>A;ENST00000577910:exon9:c.763-1G>A)	.	.	0.99993314117114	0.93
18	47008782	T	A	18	49482412	y	y	splicing	C18orf32(NM_001199346:exon4:c.166-2A>T;NM_001035005:exon4:c.166-2A>T);RPL17-C18orf32(NM_001199355:exon8:c.696-2A>T;NM_001199356:exon8:c.582-2A>T)	.	.	splicing	ENSG00000177576(ENST00000579820:exon4:c.166-2A>T;ENST00000318240:exon4:c.166-2A>T;ENST00000582392:exon4:c.166-2A>T);ENSG00000215472(ENST00000584895:exon8:c.696-2A>T;ENST00000332968:exon7:c.582-2A>T;ENST00000577910:exon9:c.763-2A>T)	.	.	0.999962958601995	0.83
18	47008782	T	C	18	49482412	y	y	splicing	C18orf32(NM_001199346:exon4:c.166-2A>G;NM_001035005:exon4:c.166-2A>G);RPL17-C18orf32(NM_001199355:exon8:c.696-2A>G;NM_001199356:exon8:c.582-2A>G)	.	.	splicing	ENSG00000177576(ENST00000579820:exon4:c.166-2A>G;ENST00000318240:exon4:c.166-2A>G;ENST00000582392:exon4:c.166-2A>G);ENSG00000215472(ENST00000584895:exon8:c.696-2A>G;ENST00000332968:exon7:c.582-2A>G;ENST00000577910:exon9:c.763-2A>G)	.	.	0.999962958601995	0.802
18	47008782	T	G	18	49482412	y	y	splicing	C18orf32(NM_001199346:exon4:c.166-2A>C;NM_001035005:exon4:c.166-2A>C);RPL17-C18orf32(NM_001199355:exon8:c.696-2A>C;NM_001199356:exon8:c.582-2A>C)	.	.	splicing	ENSG00000177576(ENST00000579820:exon4:c.166-2A>C;ENST00000318240:exon4:c.166-2A>C;ENST00000582392:exon4:c.166-2A>C);ENSG00000215472(ENST00000584895:exon8:c.696-2A>C;ENST00000332968:exon7:c.582-2A>C;ENST00000577910:exon9:c.763-2A>C)	.	.	0.999962958601995	0.8
18	47008783	A	C	18	49482413	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.867522661534932	0.62
18	47008783	A	G	18	49482413	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.76683346953354E-5	0.028
18	47008783	A	T	18	49482413	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.44827344108126E-4	0.118
18	47008784	A	C	18	49482414	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.31361070541589E-4	0.012
18	47008784	A	G	18	49482414	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	8.5744975618532E-5	0.016
18	47008784	A	T	18	49482414	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	5.71855670837533E-4	0.04
18	47008785	A	C	18	49482415	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00224113497294225	0.336
18	47008785	A	G	18	49482415	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00182591430459669	0.166
18	47008785	A	T	18	49482415	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00212105818257511	0.354
18	47008786	A	C	18	49482416	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.985037351020599	0.946
18	47008786	A	G	18	49482416	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.02377472210219E-5	0.016
18	47008786	A	T	18	49482416	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.2624075468416E-4	0.094
18	47008787	T	A	18	49482417	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.72402940831549E-6	0.0
18	47008787	T	C	18	49482417	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	2.08450593264915E-5	0.008
18	47008787	T	G	18	49482417	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.72402940831549E-6	0.002
18	47008788	G	A	18	49482418	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.27222518440972E-5	0.082
18	47008788	G	C	18	49482418	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	8.08606674511688E-5	0.048
18	47008788	G	T	18	49482418	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.28478265455259E-4	0.082
18	47008789	A	C	18	49482419	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.30751437379472E-4	0.132
18	47008789	A	G	18	49482419	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	9.46225386099833E-5	0.004
18	47008789	A	T	18	49482419	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.8012807205086E-4	0.088
18	47008790	A	C	18	49482420	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	4.26557883866312E-4	0.104
18	47008790	A	G	18	49482420	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.17408705936086E-4	0.002
18	47008790	A	T	18	49482420	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	2.11564399255391E-4	0.076
18	47008791	A	C	18	49482421	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.94211535309118E-4	0.192
18	47008791	A	G	18	49482421	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	4.24686071228353E-4	0.02
18	47008791	A	T	18	49482421	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	9.26313254669333E-4	0.22
18	47008792	A	C	18	49482422	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	2.16051806021337E-4	0.218
18	47008792	A	G	18	49482422	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.34632311038211E-4	0.008
18	47008792	A	T	18	49482422	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.19649762014838E-4	0.19
18	47009946	G	A	18	49483576	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	4.29581320696264E-5	0.0
18	47009946	G	C	18	49483576	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	4.29581320696264E-5	0.0
18	47009946	G	T	18	49483576	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	4.29581320696264E-5	0.0
18	47009947	T	A	18	49483577	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.16512912058464E-4	0.004
18	47009947	T	C	18	49483577	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	8.07908435210196E-5	0.004
18	47009947	T	G	18	49483577	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	9.21585938585243E-5	0.004
18	47009948	T	A	18	49483578	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.05861460982334E-5	0.01
18	47009948	T	C	18	49483578	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.00176887911265E-5	0.0
18	47009948	T	G	18	49483578	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	2.64816098687479E-5	0.004
18	47009949	C	A	18	49483579	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.377268708812211	0.388
18	47009949	C	G	18	49483579	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.151966265774162	0.414
18	47009949	C	T	18	49483579	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.263845930922938	0.436
18	47009950	T	A	18	49483580	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.0289623167374028	0.248
18	47009950	T	C	18	49483580	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.0976786323154003	0.386
18	47009950	T	G	18	49483580	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.0278537332708125	0.276
18	47009951	T	A	18	49483581	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.911792454760143	0.606
18	47009951	T	C	18	49483581	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.0171680518381456	0.202
18	47009951	T	G	18	49483581	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.887660025099375	0.62
18	47009952	A	C	18	49483582	y	y	splicing	C18orf32(NM_001199346:exon3:c.165+2T>G;NM_001035005:exon3:c.165+2T>G);RPL17-C18orf32(NM_001199355:exon7:c.695+2T>G;NM_001199356:exon7:c.581+2T>G)	.	.	splicing	ENSG00000177576(ENST00000579820:exon3:c.165+2T>G;ENST00000318240:exon3:c.165+2T>G;ENST00000582392:exon3:c.165+2T>G);ENSG00000215472(ENST00000584895:exon7:c.695+2T>G;ENST00000332968:exon6:c.581+2T>G;ENST00000577910:exon8:c.762+2T>G)	.	.	0.999978156327223	0.932
18	47009952	A	G	18	49483582	y	y	splicing	C18orf32(NM_001199346:exon3:c.165+2T>C;NM_001035005:exon3:c.165+2T>C);RPL17-C18orf32(NM_001199355:exon7:c.695+2T>C;NM_001199356:exon7:c.581+2T>C)	.	.	splicing	ENSG00000177576(ENST00000579820:exon3:c.165+2T>C;ENST00000318240:exon3:c.165+2T>C;ENST00000582392:exon3:c.165+2T>C);ENSG00000215472(ENST00000584895:exon7:c.695+2T>C;ENST00000332968:exon6:c.581+2T>C;ENST00000577910:exon8:c.762+2T>C)	.	.	0.978763800270509	0.59
18	47009952	A	T	18	49483582	y	y	splicing	C18orf32(NM_001199346:exon3:c.165+2T>A;NM_001035005:exon3:c.165+2T>A);RPL17-C18orf32(NM_001199355:exon7:c.695+2T>A;NM_001199356:exon7:c.581+2T>A)	.	.	splicing	ENSG00000177576(ENST00000579820:exon3:c.165+2T>A;ENST00000318240:exon3:c.165+2T>A;ENST00000582392:exon3:c.165+2T>A);ENSG00000215472(ENST00000584895:exon7:c.695+2T>A;ENST00000332968:exon6:c.581+2T>A;ENST00000577910:exon8:c.762+2T>A)	.	.	0.999966514958823	0.926
18	47009953	C	A	18	49483583	y	y	splicing	C18orf32(NM_001199346:exon3:c.165+1G>T;NM_001035005:exon3:c.165+1G>T);RPL17-C18orf32(NM_001199355:exon7:c.695+1G>T;NM_001199356:exon7:c.581+1G>T)	.	.	splicing	ENSG00000177576(ENST00000579820:exon3:c.165+1G>T;ENST00000318240:exon3:c.165+1G>T;ENST00000582392:exon3:c.165+1G>T);ENSG00000215472(ENST00000584895:exon7:c.695+1G>T;ENST00000332968:exon6:c.581+1G>T;ENST00000577910:exon8:c.762+1G>T)	.	.	0.99993314117114	0.932
18	47009953	C	G	18	49483583	y	y	splicing	C18orf32(NM_001199346:exon3:c.165+1G>C;NM_001035005:exon3:c.165+1G>C);RPL17-C18orf32(NM_001199355:exon7:c.695+1G>C;NM_001199356:exon7:c.581+1G>C)	.	.	splicing	ENSG00000177576(ENST00000579820:exon3:c.165+1G>C;ENST00000318240:exon3:c.165+1G>C;ENST00000582392:exon3:c.165+1G>C);ENSG00000215472(ENST00000584895:exon7:c.695+1G>C;ENST00000332968:exon6:c.581+1G>C;ENST00000577910:exon8:c.762+1G>C)	.	.	0.99993314117114	0.934
18	47009953	C	T	18	49483583	y	y	splicing	C18orf32(NM_001199346:exon3:c.165+1G>A;NM_001035005:exon3:c.165+1G>A);RPL17-C18orf32(NM_001199355:exon7:c.695+1G>A;NM_001199356:exon7:c.581+1G>A)	.	.	splicing	ENSG00000177576(ENST00000579820:exon3:c.165+1G>A;ENST00000318240:exon3:c.165+1G>A;ENST00000582392:exon3:c.165+1G>A);ENSG00000215472(ENST00000584895:exon7:c.695+1G>A;ENST00000332968:exon6:c.581+1G>A;ENST00000577910:exon8:c.762+1G>A)	.	.	0.99993314117114	0.932
18	47009954	C	A	18	49483584	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon2:c.G165T:p.K55N;C18orf32:NM_001199346:exon2:c.G165T:p.K55N;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon2:c.G165T:p.K55N;ENSG00000177576:ENST00000582392:exon2:c.G165T:p.K55N;ENSG00000177576:ENST00000579820:exon2:c.G165T:p.K55N;	0.996610031242373	0.906
18	47009954	C	G	18	49483584	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon2:c.G165C:p.K55N;C18orf32:NM_001199346:exon2:c.G165C:p.K55N;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon2:c.G165C:p.K55N;ENSG00000177576:ENST00000582392:exon2:c.G165C:p.K55N;ENSG00000177576:ENST00000579820:exon2:c.G165C:p.K55N;	0.992835314235421	0.694
18	47009954	C	T	18	49483584	y	y	exonic	C18orf32	synonymous SNV	C18orf32:NM_001035005:exon2:c.G165A:p.K55K;C18orf32:NM_001199346:exon2:c.G165A:p.K55K;	exonic	ENSG00000177576	synonymous SNV	ENSG00000177576:ENST00000318240:exon2:c.G165A:p.K55K;ENSG00000177576:ENST00000582392:exon2:c.G165A:p.K55K;ENSG00000177576:ENST00000579820:exon2:c.G165A:p.K55K;	0.984960448201629	0.906
18	47009955	T	A	18	49483585	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon2:c.A164T:p.K55M;C18orf32:NM_001199346:exon2:c.A164T:p.K55M;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon2:c.A164T:p.K55M;ENSG00000177576:ENST00000582392:exon2:c.A164T:p.K55M;ENSG00000177576:ENST00000579820:exon2:c.A164T:p.K55M;	0.985960981211637	0.698
18	47009955	T	C	18	49483585	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon2:c.A164G:p.K55R;C18orf32:NM_001199346:exon2:c.A164G:p.K55R;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon2:c.A164G:p.K55R;ENSG00000177576:ENST00000582392:exon2:c.A164G:p.K55R;ENSG00000177576:ENST00000579820:exon2:c.A164G:p.K55R;	0.421254929929547	0.504
18	47009955	T	G	18	49483585	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon2:c.A164C:p.K55T;C18orf32:NM_001199346:exon2:c.A164C:p.K55T;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon2:c.A164C:p.K55T;ENSG00000177576:ENST00000582392:exon2:c.A164C:p.K55T;ENSG00000177576:ENST00000579820:exon2:c.A164C:p.K55T;	0.595704074422541	0.556
18	47009956	T	A	18	49483586	y	y	exonic	C18orf32	stopgain SNV	C18orf32:NM_001035005:exon2:c.A163T:p.K55X;C18orf32:NM_001199346:exon2:c.A163T:p.K55X;	exonic	ENSG00000177576	stopgain SNV	ENSG00000177576:ENST00000318240:exon2:c.A163T:p.K55X;ENSG00000177576:ENST00000582392:exon2:c.A163T:p.K55X;ENSG00000177576:ENST00000579820:exon2:c.A163T:p.K55X;	0.150883743318902	0.222
18	47009956	T	C	18	49483586	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon2:c.A163G:p.K55E;C18orf32:NM_001199346:exon2:c.A163G:p.K55E;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon2:c.A163G:p.K55E;ENSG00000177576:ENST00000582392:exon2:c.A163G:p.K55E;ENSG00000177576:ENST00000579820:exon2:c.A163G:p.K55E;	9.83546818535986E-4	0.022
18	47009956	T	G	18	49483586	y	y	exonic	C18orf32	nonsynonymous SNV	C18orf32:NM_001035005:exon2:c.A163C:p.K55Q;C18orf32:NM_001199346:exon2:c.A163C:p.K55Q;	exonic	ENSG00000177576	nonsynonymous SNV	ENSG00000177576:ENST00000318240:exon2:c.A163C:p.K55Q;ENSG00000177576:ENST00000582392:exon2:c.A163C:p.K55Q;ENSG00000177576:ENST00000579820:exon2:c.A163C:p.K55Q;	3.25161478945469E-4	0.0
18	47010140	A	C	18	49483770	y	y	exonic	RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon6:c.T395G:p.L132W;RPL17-C18orf32:NM_001199355:exon6:c.T509G:p.L170W;	exonic	ENSG00000215472	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon5:c.T395G:p.L132W;ENSG00000215472:ENST00000584895:exon6:c.T509G:p.L170W;	3.06668522986722E-4	0.066
18	47010140	A	G	18	49483770	y	y	exonic	RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon6:c.T395C:p.L132S;RPL17-C18orf32:NM_001199355:exon6:c.T509C:p.L170S;	exonic	ENSG00000215472	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon5:c.T395C:p.L132S;ENSG00000215472:ENST00000584895:exon6:c.T509C:p.L170S;	1.32712658486101E-4	0.074
18	47010140	A	T	18	49483770	y	y	exonic	RPL17-C18orf32	stopgain SNV	RPL17-C18orf32:NM_001199356:exon6:c.T395A:p.L132X;RPL17-C18orf32:NM_001199355:exon6:c.T509A:p.L170X;	exonic	ENSG00000215472	stopgain SNV	ENSG00000215472:ENST00000332968:exon5:c.T395A:p.L132X;ENSG00000215472:ENST00000584895:exon6:c.T509A:p.L170X;	1.08968040733788E-4	0.17
18	47010141	A	C	18	49483771	y	y	exonic	RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon6:c.T394G:p.L132V;RPL17-C18orf32:NM_001199355:exon6:c.T508G:p.L170V;	exonic	ENSG00000215472	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon5:c.T394G:p.L132V;ENSG00000215472:ENST00000584895:exon6:c.T508G:p.L170V;	0.00151697555862268	0.136
18	47010141	A	G	18	49483771	y	y	exonic	RPL17-C18orf32	synonymous SNV	RPL17-C18orf32:NM_001199356:exon6:c.T394C:p.L132L;RPL17-C18orf32:NM_001199355:exon6:c.T508C:p.L170L;	exonic	ENSG00000215472	synonymous SNV	ENSG00000215472:ENST00000332968:exon5:c.T394C:p.L132L;ENSG00000215472:ENST00000584895:exon6:c.T508C:p.L170L;	9.25361695823174E-5	0.07
18	47010141	A	T	18	49483771	y	y	exonic	RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon6:c.T394A:p.L132M;RPL17-C18orf32:NM_001199355:exon6:c.T508A:p.L170M;	exonic	ENSG00000215472	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon5:c.T394A:p.L132M;ENSG00000215472:ENST00000584895:exon6:c.T508A:p.L170M;	3.79145990426784E-4	0.038
18	47010142	C	A	18	49483772	y	y	splicing	C18orf32;RPL17-C18orf32(NM_001199355:exon7:c.508-1G>T;NM_001199356:exon7:c.394-1G>T)	.	.	splicing	ENSG00000177576;ENSG00000215472(ENST00000584895:exon7:c.508-1G>T;ENST00000332968:exon6:c.394-1G>T;ENST00000577910:exon8:c.575-1G>T)	.	.	0.999762606017925	0.884
18	47010142	C	G	18	49483772	y	y	splicing	C18orf32;RPL17-C18orf32(NM_001199355:exon7:c.508-1G>C;NM_001199356:exon7:c.394-1G>C)	.	.	splicing	ENSG00000177576;ENSG00000215472(ENST00000584895:exon7:c.508-1G>C;ENST00000332968:exon6:c.394-1G>C;ENST00000577910:exon8:c.575-1G>C)	.	.	0.999858260419601	0.884
18	47010142	C	T	18	49483772	y	y	splicing	C18orf32;RPL17-C18orf32(NM_001199355:exon7:c.508-1G>A;NM_001199356:exon7:c.394-1G>A)	.	.	splicing	ENSG00000177576;ENSG00000215472(ENST00000584895:exon7:c.508-1G>A;ENST00000332968:exon6:c.394-1G>A;ENST00000577910:exon8:c.575-1G>A)	.	.	0.99987095818783	0.906
18	47010143	T	A	18	49483773	y	y	splicing	C18orf32;RPL17-C18orf32(NM_001199355:exon7:c.508-2A>T;NM_001199356:exon7:c.394-2A>T)	.	.	splicing	ENSG00000177576;ENSG00000215472(ENST00000584895:exon7:c.508-2A>T;ENST00000332968:exon6:c.394-2A>T;ENST00000577910:exon8:c.575-2A>T)	.	.	0.999478221002274	0.87
18	47010143	T	C	18	49483773	y	y	splicing	C18orf32;RPL17-C18orf32(NM_001199355:exon7:c.508-2A>G;NM_001199356:exon7:c.394-2A>G)	.	.	splicing	ENSG00000177576;ENSG00000215472(ENST00000584895:exon7:c.508-2A>G;ENST00000332968:exon6:c.394-2A>G;ENST00000577910:exon8:c.575-2A>G)	.	.	0.999478221002274	0.87
18	47010143	T	G	18	49483773	y	y	splicing	C18orf32;RPL17-C18orf32(NM_001199355:exon7:c.508-2A>C;NM_001199356:exon7:c.394-2A>C)	.	.	splicing	ENSG00000177576;ENSG00000215472(ENST00000584895:exon7:c.508-2A>C;ENST00000332968:exon6:c.394-2A>C;ENST00000577910:exon8:c.575-2A>C)	.	.	0.999478221002274	0.87
18	47010144	G	A	18	49483774	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00272921408856745	0.28
18	47010144	G	C	18	49483774	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.998855175877278	0.8
18	47010144	G	T	18	49483774	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.977921124319026	0.776
18	47010145	T	A	18	49483775	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00104366074951843	0.034
18	47010145	T	C	18	49483775	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.992013764159847	0.874
18	47010145	T	G	18	49483775	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.86157658127222E-4	0.054
18	47010146	T	A	18	49483776	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.27899182702214E-5	0.032
18	47010146	T	C	18	49483776	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.96930709788062E-5	0.018
18	47010146	T	G	18	49483776	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.47118743812139E-5	0.012
18	47010147	G	A	18	49483777	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	9.68727722215393E-5	0.012
18	47010147	G	C	18	49483777	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.0105795508267004	0.31
18	47010147	G	T	18	49483777	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00765086945154024	0.228
18	47010148	A	C	18	49483778	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.999520399888573	0.978
18	47010148	A	G	18	49483778	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	4.56802923846823E-5	0.026
18	47010148	A	T	18	49483778	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.179581114368173	0.458
18	47010149	T	A	18	49483779	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.39258571898036E-5	0.042
18	47010149	T	C	18	49483779	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.69593694723527E-5	0.014
18	47010149	T	G	18	49483779	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	9.57580335073436E-5	0.018
18	47010150	A	C	18	49483780	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.995720886143197	0.936
18	47010150	A	G	18	49483780	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	8.34576561320204E-5	0.04
18	47010150	A	T	18	49483780	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00347705621028919	0.286
18	47010151	T	A	18	49483781	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	3.45176241681138E-5	0.032
18	47010151	T	C	18	49483781	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	8.7988254859285E-6	0.008
18	47010151	T	G	18	49483781	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.25044167481892E-5	0.012
18	47010152	A	C	18	49483782	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.999532230707793	0.872
18	47010152	A	G	18	49483782	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00328278196636818	0.138
18	47010152	A	T	18	49483782	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.438468928991809	0.436
18	47010153	T	A	18	49483783	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.41618358790806E-5	0.036
18	47010153	T	C	18	49483783	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	4.93330440519367E-5	0.05
18	47010153	T	G	18	49483783	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.24227301182517E-6	0.01
18	47012795	T	A	18	49486425	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.91564032431422E-5	0.0
18	47012795	T	C	18	49486425	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.67535614375061E-5	0.0
18	47012795	T	G	18	49486425	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.67535614375061E-5	0.0
18	47012796	C	A	18	49486426	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.38258961194127E-5	0.022
18	47012796	C	G	18	49486426	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.38258961194127E-5	0.016
18	47012796	C	T	18	49486426	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	5.52086759380612E-5	0.024
18	47012797	A	C	18	49486427	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.0010833263092859	0.01
18	47012797	A	G	18	49486427	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.0010833263092859	0.01
18	47012797	A	T	18	49486427	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00161169218389003	0.01
18	47012798	C	A	18	49486428	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.3525528897954E-5	0.004
18	47012798	C	G	18	49486428	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.3525528897954E-5	0.006
18	47012798	C	T	18	49486428	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.3525528897954E-5	0.004
18	47012799	T	A	18	49486429	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	5.15941453541388E-5	0.002
18	47012799	T	C	18	49486429	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.89925739660516E-5	0.036
18	47012799	T	G	18	49486429	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.89925739660516E-5	0.104
18	47012800	T	A	18	49486430	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.91564032431422E-5	0.002
18	47012800	T	C	18	49486430	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.91564032431422E-5	0.0
18	47012800	T	G	18	49486430	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.91564032431422E-5	0.0
18	47012801	A	C	18	49486431	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	splicing	ENSG00000177576	.	.	5.08291490468438E-5	0.006
18	47012801	A	G	18	49486431	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	splicing	ENSG00000177576	.	.	5.08291490468438E-5	0.008
18	47012801	A	T	18	49486431	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	splicing	ENSG00000177576	.	.	5.08291490468438E-5	0.006
18	47012802	C	A	18	49486432	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	splicing	ENSG00000177576	.	.	1.59660858139777E-5	0.006
18	47012802	C	G	18	49486432	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	splicing	ENSG00000177576	.	.	1.52211639126661E-5	0.004
18	47012802	C	T	18	49486432	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	splicing	ENSG00000177576	.	.	1.59660858139777E-5	0.004
18	47012803	G	A	18	49486433	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	2.02271207087581E-5	0.0
18	47012803	G	C	18	49486433	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	2.02271207087581E-5	0.0
18	47012803	G	T	18	49486433	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	2.02271207087581E-5	0.0
18	47012804	C	A	18	49486434	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	3.69930370103191E-5	0.0
18	47012804	C	G	18	49486434	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	3.57076726553018E-5	0.0
18	47012804	C	T	18	49486434	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	3.69930370103191E-5	0.0
18	47012805	C	A	18	49486435	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	7.5364181533214E-5	0.0
18	47012805	C	G	18	49486435	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	7.27456659313109E-5	0.0
18	47012805	C	T	18	49486435	n	y	intronic	C18orf32;RPL17-C18orf32	.	.	UTR5	ENSG00000177576	.	.	7.5364181533214E-5	0.0
18	47013405	G	A	18	49487035	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	2.78240465903605E-4	0.028
18	47013405	G	C	18	49487035	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.3116929220058E-4	0.02
18	47013405	G	T	18	49487035	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.44101454748109E-4	0.016
18	47013406	A	C	18	49487036	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.35428655471156E-5	0.0
18	47013406	A	G	18	49487036	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.35428655471156E-5	0.002
18	47013406	A	T	18	49487036	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	7.01315188657279E-5	0.0
18	47013407	A	C	18	49487037	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	5.02746653937033E-4	0.266
18	47013407	A	G	18	49487037	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00178344699503054	0.272
18	47013407	A	T	18	49487037	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.0452760122475764	0.286
18	47013408	G	A	18	49487038	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	5.05808194911997E-5	0.018
18	47013408	G	C	18	49487038	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.0732864665364E-4	0.002
18	47013408	G	T	18	49487038	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	6.28561865591638E-5	0.01
18	47013409	G	A	18	49487039	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.00229302418526006	0.046
18	47013409	G	C	18	49487039	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	9.32179971960142E-4	0.104
18	47013409	G	T	18	49487039	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	1.88127440666737E-4	0.068
18	47013410	T	A	18	49487040	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.99874425872962	0.658
18	47013410	T	C	18	49487040	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.934207214100818	0.478
18	47013410	T	G	18	49487040	y	y	intronic	C18orf32;RPL17-C18orf32	.	.	intronic	ENSG00000177576;ENSG00000215472	.	.	0.998319969702523	0.732
18	47013411	A	C	18	49487041	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.994749964303756	0.48
18	47013411	A	G	18	49487041	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.222704501194222	0.374
18	47013411	A	T	18	49487041	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.998121215447256	0.484
18	47013412	C	A	18	49487042	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.999810947902803	0.608
18	47013412	C	G	18	49487042	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.999470107160337	0.606
18	47013412	C	T	18	49487042	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.999810947902803	0.61
18	47013413	C	A	18	49487043	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	0.99968872974425	0.816
18	47013413	C	G	18	49487043	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	0.999672814153351	0.812
18	47013413	C	T	18	49487043	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	0.999841308124093	0.85
18	47013414	C	A	18	49487044	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	5.41003410360153E-4	0.12
18	47013414	C	G	18	49487044	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	6.25580661932895E-5	0.046
18	47013414	C	T	18	49487044	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	2.17658327506561E-4	0.034
18	47013415	T	A	18	49487045	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	0.0716055492334039	0.388
18	47013415	T	C	18	49487045	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	0.00194996398311972	0.056
18	47013415	T	G	18	49487045	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	6.50011221694428E-5	0.004
18	47013569	A	C	18	49487199	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.12051782009311E-4	0.01
18	47013569	A	G	18	49487199	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.12051782009311E-4	0.01
18	47013569	A	T	18	49487199	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	8.26331655378463E-5	0.008
18	47013570	C	A	18	49487200	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	3.72644098080992E-5	0.0
18	47013570	C	G	18	49487200	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	3.72644098080992E-5	0.006
18	47013570	C	T	18	49487200	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	3.72644098080992E-5	0.0
18	47013571	A	C	18	49487201	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	8.80847989491769E-5	0.004
18	47013571	A	G	18	49487201	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	8.80847989491769E-5	0.004
18	47013571	A	T	18	49487201	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.2709332397549E-4	0.004
18	47013572	C	A	18	49487202	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	0.00106472840520139	0.002
18	47013572	C	G	18	49487202	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	0.00106472840520139	0.004
18	47013572	C	T	18	49487202	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	0.00106472840520139	0.06
18	47013573	T	A	18	49487203	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.90336449518396E-4	0.022
18	47013573	T	C	18	49487203	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.92337009422116E-4	0.01
18	47013573	T	G	18	49487203	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.92337009422116E-4	0.01
18	47013574	C	A	18	49487204	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.61821323901995E-4	0.096
18	47013574	C	G	18	49487204	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.07774887351918E-4	0.014
18	47013574	C	T	18	49487204	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.61821323901995E-4	0.012
18	47013575	A	C	18	49487205	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.00430955476585136	0.046
18	47013575	A	G	18	49487205	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.00430955476585136	0.044
18	47013575	A	T	18	49487205	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.00738506323474107	0.044
18	47013576	C	A	18	49487206	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	6.06541812691775E-4	0.01
18	47013576	C	G	18	49487206	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.00112860188305749	0.004
18	47013576	C	T	18	49487206	y	y	splicing	C18orf32	.	.	splicing	ENSG00000177576	.	.	0.00108223164511831	0.004
18	47013577	C	A	18	49487207	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.89662605504019E-4	0.002
18	47013577	C	G	18	49487207	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.89662605504019E-4	0.002
18	47013577	C	T	18	49487207	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.32884256830347E-4	0.002
18	47013578	C	A	18	49487208	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.6750723544291E-4	0.0
18	47013578	C	G	18	49487208	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.20713018245989E-4	0.0
18	47013578	C	T	18	49487208	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	8.99829637552164E-5	0.0
18	47013579	G	A	18	49487209	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.59464440059759E-4	0.002
18	47013579	G	C	18	49487209	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	9.74046797087874E-5	0.0
18	47013579	G	T	18	49487209	y	y	UTR5	C18orf32	.	.	UTR5	ENSG00000177576	.	.	1.1333852250817E-4	0.0
18	47014862	T	A	18	49488492	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	4.72082809320102E-5	0.0
18	47014862	T	C	18	49488492	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	3.54782966277655E-5	0.0
18	47014862	T	G	18	49488492	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	3.54782966277655E-5	0.0
18	47014863	T	A	18	49488493	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	9.54583771157E-5	0.0
18	47014863	T	C	18	49488493	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	8.64905445396362E-5	0.0
18	47014863	T	G	18	49488493	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	8.64905445396362E-5	0.0
18	47014864	A	C	18	49488494	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	4.89682045695691E-4	0.0
18	47014864	A	G	18	49488494	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	4.89682045695691E-4	0.0
18	47014864	A	T	18	49488494	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	6.88864756717333E-4	0.0
18	47014865	A	C	18	49488495	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	5.69439264402225E-5	0.0
18	47014865	A	G	18	49488495	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	5.69439264402225E-5	0.0
18	47014865	A	T	18	49488495	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	5.69439264402225E-5	0.0
18	47014866	T	A	18	49488496	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	3.58662744131228E-5	0.0
18	47014866	T	C	18	49488496	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	3.58662744131228E-5	0.0
18	47014866	T	G	18	49488496	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	3.58662744131228E-5	0.0
18	47014867	T	A	18	49488497	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	6.68256441675417E-5	0.0
18	47014867	T	C	18	49488497	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	2.49011727534591E-5	0.0
18	47014867	T	G	18	49488497	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000265681	.	.	2.49011727534591E-5	0.0
18	47014868	A	C	18	49488498	n	y	UTR3	RPL17	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.574+2T>G)	.	.	6.89925739660516E-5	0.006
18	47014868	A	G	18	49488498	n	y	UTR3	RPL17	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.574+2T>C)	.	.	6.89925739660516E-5	0.006
18	47014868	A	T	18	49488498	n	y	UTR3	RPL17	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.574+2T>A)	.	.	5.15941453541388E-5	0.002
18	47014869	C	A	18	49488499	n	y	UTR3	RPL17	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.574+1G>T)	.	.	7.18924664478357E-5	0.0
18	47014869	C	G	18	49488499	n	y	UTR3	RPL17	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.574+1G>C)	.	.	7.18924664478357E-5	0.0
18	47014869	C	T	18	49488499	n	y	UTR3	RPL17	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.574+1G>A)	.	.	7.18924664478357E-5	0.0
18	47014870	A	C	18	49488500	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	1.03593669759101E-4	0.0
18	47014870	A	G	18	49488500	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	1.03593669759101E-4	0.0
18	47014870	A	T	18	49488500	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	1.30668599857595E-4	0.0
18	47014871	T	A	18	49488501	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	7.82432586632676E-4	0.002
18	47014871	T	C	18	49488501	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	7.82432586632676E-4	0.002
18	47014871	T	G	18	49488501	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	7.82432586632676E-4	0.002
18	47014872	T	A	18	49488502	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	0.0207672217962215	0.136
18	47014872	T	C	18	49488502	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	0.0173493336427258	0.034
18	47014872	T	G	18	49488502	n	y	UTR3	RPL17	.	.	ncRNA_UTR3	ENSG00000215472;ENSG00000265681	.	.	0.0173493336427258	0.034
18	47014935	A	C	18	49488565	y	y	exonic	RPL17	nonsynonymous SNV	RPL17:NM_001199340:exon8:c.T509G:p.I170R;RPL17:NM_001199341:exon7:c.T509G:p.I170R;RPL17:NM_001199342:exon8:c.T509G:p.I170R;RPL17:NM_000985:exon7:c.T509G:p.I170R;RPL17:NM_001199343:exon8:c.T509G:p.I170R;RPL17:NM_001035006:exon7:c.T509G:p.I170R;RPL17:NM_001199345:exon6:c.T395G:p.I132R;RPL17:NM_001199344:exon7:c.T509G:p.I170R;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon7:c.T509G:p.I170R;ENSG00000265681:ENST00000418495:exon7:c.T509G:p.I170R;ENSG00000215472:ENST00000577910:exon6:c.T509G:p.I170R;ENSG00000265681:ENST00000580261:exon7:c.T509G:p.I170R;ENSG00000265681:ENST00000583637:exon8:c.T509G:p.I170R;ENSG00000265681:ENST00000581373:exon6:c.T395G:p.I132R;ENSG00000265681:ENST00000579248:exon7:c.T509G:p.I170R;ENSG00000265681:ENST00000579408:exon6:c.T509G:p.I170R;ENSG00000265681:ENST00000580210:exon6:c.T479G:p.I160R;	0.833878140466525	0.748
18	47014935	A	G	18	49488565	y	y	exonic	RPL17	nonsynonymous SNV	RPL17:NM_001199340:exon8:c.T509C:p.I170T;RPL17:NM_001199341:exon7:c.T509C:p.I170T;RPL17:NM_001199342:exon8:c.T509C:p.I170T;RPL17:NM_000985:exon7:c.T509C:p.I170T;RPL17:NM_001199343:exon8:c.T509C:p.I170T;RPL17:NM_001035006:exon7:c.T509C:p.I170T;RPL17:NM_001199345:exon6:c.T395C:p.I132T;RPL17:NM_001199344:exon7:c.T509C:p.I170T;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon7:c.T509C:p.I170T;ENSG00000265681:ENST00000418495:exon7:c.T509C:p.I170T;ENSG00000215472:ENST00000577910:exon6:c.T509C:p.I170T;ENSG00000265681:ENST00000580261:exon7:c.T509C:p.I170T;ENSG00000265681:ENST00000583637:exon8:c.T509C:p.I170T;ENSG00000265681:ENST00000581373:exon6:c.T395C:p.I132T;ENSG00000265681:ENST00000579248:exon7:c.T509C:p.I170T;ENSG00000265681:ENST00000579408:exon6:c.T509C:p.I170T;ENSG00000265681:ENST00000580210:exon6:c.T479C:p.I160T;	0.833878140466525	0.762
18	47014935	A	T	18	49488565	y	y	exonic	RPL17	nonsynonymous SNV	RPL17:NM_001199340:exon8:c.T509A:p.I170K;RPL17:NM_001199341:exon7:c.T509A:p.I170K;RPL17:NM_001199342:exon8:c.T509A:p.I170K;RPL17:NM_000985:exon7:c.T509A:p.I170K;RPL17:NM_001199343:exon8:c.T509A:p.I170K;RPL17:NM_001035006:exon7:c.T509A:p.I170K;RPL17:NM_001199345:exon6:c.T395A:p.I132K;RPL17:NM_001199344:exon7:c.T509A:p.I170K;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon7:c.T509A:p.I170K;ENSG00000265681:ENST00000418495:exon7:c.T509A:p.I170K;ENSG00000215472:ENST00000577910:exon6:c.T509A:p.I170K;ENSG00000265681:ENST00000580261:exon7:c.T509A:p.I170K;ENSG00000265681:ENST00000583637:exon8:c.T509A:p.I170K;ENSG00000265681:ENST00000581373:exon6:c.T395A:p.I132K;ENSG00000265681:ENST00000579248:exon7:c.T509A:p.I170K;ENSG00000265681:ENST00000579408:exon6:c.T509A:p.I170K;ENSG00000265681:ENST00000580210:exon6:c.T479A:p.I160K;	0.833878140466525	0.762
18	47014936	T	A	18	49488566	y	y	exonic	RPL17	nonsynonymous SNV	RPL17:NM_001199340:exon8:c.A508T:p.I170L;RPL17:NM_001199341:exon7:c.A508T:p.I170L;RPL17:NM_001199342:exon8:c.A508T:p.I170L;RPL17:NM_000985:exon7:c.A508T:p.I170L;RPL17:NM_001199343:exon8:c.A508T:p.I170L;RPL17:NM_001035006:exon7:c.A508T:p.I170L;RPL17:NM_001199345:exon6:c.A394T:p.I132L;RPL17:NM_001199344:exon7:c.A508T:p.I170L;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon7:c.A508T:p.I170L;ENSG00000265681:ENST00000418495:exon7:c.A508T:p.I170L;ENSG00000215472:ENST00000577910:exon6:c.A508T:p.I170L;ENSG00000265681:ENST00000580261:exon7:c.A508T:p.I170L;ENSG00000265681:ENST00000583637:exon8:c.A508T:p.I170L;ENSG00000265681:ENST00000581373:exon6:c.A394T:p.I132L;ENSG00000265681:ENST00000579248:exon7:c.A508T:p.I170L;ENSG00000265681:ENST00000579408:exon6:c.A508T:p.I170L;ENSG00000265681:ENST00000580210:exon6:c.A478T:p.I160L;	0.253698538600482	0.502
18	47014936	T	C	18	49488566	y	y	exonic	RPL17	nonsynonymous SNV	RPL17:NM_001199340:exon8:c.A508G:p.I170V;RPL17:NM_001199341:exon7:c.A508G:p.I170V;RPL17:NM_001199342:exon8:c.A508G:p.I170V;RPL17:NM_000985:exon7:c.A508G:p.I170V;RPL17:NM_001199343:exon8:c.A508G:p.I170V;RPL17:NM_001035006:exon7:c.A508G:p.I170V;RPL17:NM_001199345:exon6:c.A394G:p.I132V;RPL17:NM_001199344:exon7:c.A508G:p.I170V;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon7:c.A508G:p.I170V;ENSG00000265681:ENST00000418495:exon7:c.A508G:p.I170V;ENSG00000215472:ENST00000577910:exon6:c.A508G:p.I170V;ENSG00000265681:ENST00000580261:exon7:c.A508G:p.I170V;ENSG00000265681:ENST00000583637:exon8:c.A508G:p.I170V;ENSG00000265681:ENST00000581373:exon6:c.A394G:p.I132V;ENSG00000265681:ENST00000579248:exon7:c.A508G:p.I170V;ENSG00000265681:ENST00000579408:exon6:c.A508G:p.I170V;ENSG00000265681:ENST00000580210:exon6:c.A478G:p.I160V;	0.00829003674465697	0.024
18	47014936	T	G	18	49488566	y	y	exonic	RPL17	nonsynonymous SNV	RPL17:NM_001199340:exon8:c.A508C:p.I170L;RPL17:NM_001199341:exon7:c.A508C:p.I170L;RPL17:NM_001199342:exon8:c.A508C:p.I170L;RPL17:NM_000985:exon7:c.A508C:p.I170L;RPL17:NM_001199343:exon8:c.A508C:p.I170L;RPL17:NM_001035006:exon7:c.A508C:p.I170L;RPL17:NM_001199345:exon6:c.A394C:p.I132L;RPL17:NM_001199344:exon7:c.A508C:p.I170L;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon7:c.A508C:p.I170L;ENSG00000265681:ENST00000418495:exon7:c.A508C:p.I170L;ENSG00000215472:ENST00000577910:exon6:c.A508C:p.I170L;ENSG00000265681:ENST00000580261:exon7:c.A508C:p.I170L;ENSG00000265681:ENST00000583637:exon8:c.A508C:p.I170L;ENSG00000265681:ENST00000581373:exon6:c.A394C:p.I132L;ENSG00000265681:ENST00000579248:exon7:c.A508C:p.I170L;ENSG00000265681:ENST00000579408:exon6:c.A508C:p.I170L;ENSG00000265681:ENST00000580210:exon6:c.A478C:p.I160L;	0.170408044702233	0.414
18	47014937	C	A	18	49488567	y	y	splicing	RPL17(NM_000985:exon8:c.508-1G>T;NM_001199345:exon7:c.394-1G>T;NM_001199344:exon8:c.508-1G>T;NM_001199343:exon9:c.508-1G>T;NM_001035006:exon8:c.508-1G>T;NM_001199341:exon8:c.508-1G>T;NM_001199340:exon9:c.508-1G>T;NM_001199342:exon9:c.508-1G>T)	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.508-1G>T);ENSG00000265681(ENST00000580261:exon8:c.508-1G>T;ENST00000581373:exon7:c.394-1G>T;ENST00000579248:exon8:c.508-1G>T;ENST00000579408:exon7:c.508-1G>T;ENST00000418495:exon8:c.508-1G>T;ENST00000580210:exon7:c.478-1G>T;ENST00000583637:exon9:c.508-1G>T;ENST00000578532:exon8:c.508-1G>T)	.	.	0.999979023971766	0.936
18	47014937	C	G	18	49488567	y	y	splicing	RPL17(NM_000985:exon8:c.508-1G>C;NM_001199345:exon7:c.394-1G>C;NM_001199344:exon8:c.508-1G>C;NM_001199343:exon9:c.508-1G>C;NM_001035006:exon8:c.508-1G>C;NM_001199341:exon8:c.508-1G>C;NM_001199340:exon9:c.508-1G>C;NM_001199342:exon9:c.508-1G>C)	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.508-1G>C);ENSG00000265681(ENST00000580261:exon8:c.508-1G>C;ENST00000581373:exon7:c.394-1G>C;ENST00000579248:exon8:c.508-1G>C;ENST00000579408:exon7:c.508-1G>C;ENST00000418495:exon8:c.508-1G>C;ENST00000580210:exon7:c.478-1G>C;ENST00000583637:exon9:c.508-1G>C;ENST00000578532:exon8:c.508-1G>C)	.	.	0.999979023971766	0.936
18	47014937	C	T	18	49488567	y	y	splicing	RPL17(NM_000985:exon8:c.508-1G>A;NM_001199345:exon7:c.394-1G>A;NM_001199344:exon8:c.508-1G>A;NM_001199343:exon9:c.508-1G>A;NM_001035006:exon8:c.508-1G>A;NM_001199341:exon8:c.508-1G>A;NM_001199340:exon9:c.508-1G>A;NM_001199342:exon9:c.508-1G>A)	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.508-1G>A);ENSG00000265681(ENST00000580261:exon8:c.508-1G>A;ENST00000581373:exon7:c.394-1G>A;ENST00000579248:exon8:c.508-1G>A;ENST00000579408:exon7:c.508-1G>A;ENST00000418495:exon8:c.508-1G>A;ENST00000580210:exon7:c.478-1G>A;ENST00000583637:exon9:c.508-1G>A;ENST00000578532:exon8:c.508-1G>A)	.	.	0.999979023971766	0.936
18	47014938	T	A	18	49488568	y	y	splicing	RPL17(NM_000985:exon8:c.508-2A>T;NM_001199345:exon7:c.394-2A>T;NM_001199344:exon8:c.508-2A>T;NM_001199343:exon9:c.508-2A>T;NM_001035006:exon8:c.508-2A>T;NM_001199341:exon8:c.508-2A>T;NM_001199340:exon9:c.508-2A>T;NM_001199342:exon9:c.508-2A>T)	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.508-2A>T);ENSG00000265681(ENST00000580261:exon8:c.508-2A>T;ENST00000581373:exon7:c.394-2A>T;ENST00000579248:exon8:c.508-2A>T;ENST00000579408:exon7:c.508-2A>T;ENST00000418495:exon8:c.508-2A>T;ENST00000580210:exon7:c.478-2A>T;ENST00000583637:exon9:c.508-2A>T;ENST00000578532:exon8:c.508-2A>T)	.	.	0.999989917668626	0.928
18	47014938	T	C	18	49488568	y	y	splicing	RPL17(NM_000985:exon8:c.508-2A>G;NM_001199345:exon7:c.394-2A>G;NM_001199344:exon8:c.508-2A>G;NM_001199343:exon9:c.508-2A>G;NM_001035006:exon8:c.508-2A>G;NM_001199341:exon8:c.508-2A>G;NM_001199340:exon9:c.508-2A>G;NM_001199342:exon9:c.508-2A>G)	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.508-2A>G);ENSG00000265681(ENST00000580261:exon8:c.508-2A>G;ENST00000581373:exon7:c.394-2A>G;ENST00000579248:exon8:c.508-2A>G;ENST00000579408:exon7:c.508-2A>G;ENST00000418495:exon8:c.508-2A>G;ENST00000580210:exon7:c.478-2A>G;ENST00000583637:exon9:c.508-2A>G;ENST00000578532:exon8:c.508-2A>G)	.	.	0.999989917668626	0.928
18	47014938	T	G	18	49488568	y	y	splicing	RPL17(NM_000985:exon8:c.508-2A>C;NM_001199345:exon7:c.394-2A>C;NM_001199344:exon8:c.508-2A>C;NM_001199343:exon9:c.508-2A>C;NM_001035006:exon8:c.508-2A>C;NM_001199341:exon8:c.508-2A>C;NM_001199340:exon9:c.508-2A>C;NM_001199342:exon9:c.508-2A>C)	.	.	splicing	ENSG00000215472(ENST00000577910:exon7:c.508-2A>C);ENSG00000265681(ENST00000580261:exon8:c.508-2A>C;ENST00000581373:exon7:c.394-2A>C;ENST00000579248:exon8:c.508-2A>C;ENST00000579408:exon7:c.508-2A>C;ENST00000418495:exon8:c.508-2A>C;ENST00000580210:exon7:c.478-2A>C;ENST00000583637:exon9:c.508-2A>C;ENST00000578532:exon8:c.508-2A>C)	.	.	0.999989917668626	0.928
18	47014939	G	A	18	49488569	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0292379860159486	0.11
18	47014939	G	C	18	49488569	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.999883465192217	0.966
18	47014939	G	T	18	49488569	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.919403728232589	0.73
18	47014940	G	A	18	49488570	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.38004211245901E-4	0.008
18	47014940	G	C	18	49488570	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.06624260319159E-4	0.004
18	47014940	G	T	18	49488570	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	9.64454637883965E-5	0.01
18	47014941	G	A	18	49488571	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.66802757202875E-4	0.004
18	47014941	G	C	18	49488571	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00193995066862007	0.14
18	47014941	G	T	18	49488571	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.35921088427023E-4	0.056
18	47014942	G	A	18	49488572	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.72693399670982E-4	0.028
18	47014942	G	C	18	49488572	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00353721231008456	0.178
18	47014942	G	T	18	49488572	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00290748735868705	0.164
18	47014943	A	C	18	49488573	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	9.48024852675173E-4	0.056
18	47014943	A	G	18	49488573	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.16299697617339E-4	0.002
18	47014943	A	T	18	49488573	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00159541570121463	0.088
18	47014944	A	C	18	49488574	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.53610534968943E-4	0.042
18	47014944	A	G	18	49488574	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.2194139863653E-4	0.0
18	47014944	A	T	18	49488574	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.15489551351937E-4	0.064
18	47014945	A	C	18	49488575	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.50326087246699E-4	0.094
18	47014945	A	G	18	49488575	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.69336657131178E-4	0.032
18	47014945	A	T	18	49488575	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00123793409009482	0.092
18	47014946	G	A	18	49488576	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.6714355815838E-5	0.004
18	47014946	G	C	18	49488576	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	7.3527996529258E-5	0.004
18	47014946	G	T	18	49488576	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.06203805461011E-4	0.02
18	47014947	A	C	18	49488577	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.51728396028851E-4	0.05
18	47014947	A	G	18	49488577	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.51728396028851E-4	0.014
18	47014947	A	T	18	49488577	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.71880100171623E-4	0.108
18	47014948	A	C	18	49488578	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.74496208306813E-4	0.066
18	47014948	A	G	18	49488578	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.76536842443637E-4	0.008
18	47014948	A	T	18	49488578	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.37414968785032E-4	0.076
18	47015721	T	A	18	49489351	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.99153316237132E-5	0.0
18	47015721	T	C	18	49489351	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.74586225159984E-5	0.0
18	47015721	T	G	18	49489351	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.48929332251792E-5	0.0
18	47015722	T	A	18	49489352	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.15541467781448E-5	0.0
18	47015722	T	C	18	49489352	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.77457243820827E-5	0.0
18	47015722	T	G	18	49489352	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.74586225159984E-5	0.002
18	47015723	A	C	18	49489353	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0026061923030814	0.3
18	47015723	A	G	18	49489353	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.024404821049808	0.438
18	47015723	A	T	18	49489353	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0184940103691112	0.336
18	47015724	T	A	18	49489354	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.25956659133467E-5	0.0
18	47015724	T	C	18	49489354	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.60753627005401E-5	0.006
18	47015724	T	G	18	49489354	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.09727431229919E-5	0.022
18	47015725	T	A	18	49489355	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0592054247492157	0.364
18	47015725	T	C	18	49489355	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0366896554245394	0.342
18	47015725	T	G	18	49489355	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0141154350859279	0.366
18	47015726	T	A	18	49489356	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.998712929602755	0.654
18	47015726	T	C	18	49489356	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.134962476531849	0.492
18	47015726	T	G	18	49489356	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.998622142979032	0.706
18	47015727	A	C	18	49489357	y	y	splicing	RPL17(NM_000985:exon7:c.507+2T>G;NM_001199345:exon6:c.393+2T>G;NM_001199344:exon7:c.507+2T>G;NM_001199343:exon8:c.507+2T>G;NM_001035006:exon7:c.507+2T>G;NM_001199341:exon7:c.507+2T>G;NM_001199340:exon8:c.507+2T>G;NM_001199342:exon8:c.507+2T>G);RPL17-C18orf32(NM_001199355:exon6:c.507+2T>G;NM_001199356:exon6:c.393+2T>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.507+2T>G;ENST00000332968:exon5:c.393+2T>G;ENST00000577910:exon6:c.507+2T>G);ENSG00000265681(ENST00000580261:exon7:c.507+2T>G;ENST00000581373:exon6:c.393+2T>G;ENST00000579248:exon7:c.507+2T>G;ENST00000579408:exon6:c.507+2T>G;ENST00000418495:exon7:c.507+2T>G;ENST00000580210:exon6:c.477+2T>G;ENST00000583637:exon8:c.507+2T>G;ENST00000578532:exon7:c.507+2T>G)	.	.	0.999668022189743	0.734
18	47015727	A	G	18	49489357	y	y	splicing	RPL17(NM_000985:exon7:c.507+2T>C;NM_001199345:exon6:c.393+2T>C;NM_001199344:exon7:c.507+2T>C;NM_001199343:exon8:c.507+2T>C;NM_001035006:exon7:c.507+2T>C;NM_001199341:exon7:c.507+2T>C;NM_001199340:exon8:c.507+2T>C;NM_001199342:exon8:c.507+2T>C);RPL17-C18orf32(NM_001199355:exon6:c.507+2T>C;NM_001199356:exon6:c.393+2T>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.507+2T>C;ENST00000332968:exon5:c.393+2T>C;ENST00000577910:exon6:c.507+2T>C);ENSG00000265681(ENST00000580261:exon7:c.507+2T>C;ENST00000581373:exon6:c.393+2T>C;ENST00000579248:exon7:c.507+2T>C;ENST00000579408:exon6:c.507+2T>C;ENST00000418495:exon7:c.507+2T>C;ENST00000580210:exon6:c.477+2T>C;ENST00000583637:exon8:c.507+2T>C;ENST00000578532:exon7:c.507+2T>C)	.	.	0.584719707020284	0.522
18	47015727	A	T	18	49489357	y	y	splicing	RPL17(NM_000985:exon7:c.507+2T>A;NM_001199345:exon6:c.393+2T>A;NM_001199344:exon7:c.507+2T>A;NM_001199343:exon8:c.507+2T>A;NM_001035006:exon7:c.507+2T>A;NM_001199341:exon7:c.507+2T>A;NM_001199340:exon8:c.507+2T>A;NM_001199342:exon8:c.507+2T>A);RPL17-C18orf32(NM_001199355:exon6:c.507+2T>A;NM_001199356:exon6:c.393+2T>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.507+2T>A;ENST00000332968:exon5:c.393+2T>A;ENST00000577910:exon6:c.507+2T>A);ENSG00000265681(ENST00000580261:exon7:c.507+2T>A;ENST00000581373:exon6:c.393+2T>A;ENST00000579248:exon7:c.507+2T>A;ENST00000579408:exon6:c.507+2T>A;ENST00000418495:exon7:c.507+2T>A;ENST00000580210:exon6:c.477+2T>A;ENST00000583637:exon8:c.507+2T>A;ENST00000578532:exon7:c.507+2T>A)	.	.	0.999633531709221	0.738
18	47015728	C	A	18	49489358	y	y	splicing	RPL17(NM_000985:exon7:c.507+1G>T;NM_001199345:exon6:c.393+1G>T;NM_001199344:exon7:c.507+1G>T;NM_001199343:exon8:c.507+1G>T;NM_001035006:exon7:c.507+1G>T;NM_001199341:exon7:c.507+1G>T;NM_001199340:exon8:c.507+1G>T;NM_001199342:exon8:c.507+1G>T);RPL17-C18orf32(NM_001199355:exon6:c.507+1G>T;NM_001199356:exon6:c.393+1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.507+1G>T;ENST00000332968:exon5:c.393+1G>T;ENST00000577910:exon6:c.507+1G>T);ENSG00000265681(ENST00000580261:exon7:c.507+1G>T;ENST00000581373:exon6:c.393+1G>T;ENST00000579248:exon7:c.507+1G>T;ENST00000579408:exon6:c.507+1G>T;ENST00000418495:exon7:c.507+1G>T;ENST00000580210:exon6:c.477+1G>T;ENST00000583637:exon8:c.507+1G>T;ENST00000578532:exon7:c.507+1G>T)	.	.	0.999952286258862	0.856
18	47015728	C	G	18	49489358	y	y	splicing	RPL17(NM_000985:exon7:c.507+1G>C;NM_001199345:exon6:c.393+1G>C;NM_001199344:exon7:c.507+1G>C;NM_001199343:exon8:c.507+1G>C;NM_001035006:exon7:c.507+1G>C;NM_001199341:exon7:c.507+1G>C;NM_001199340:exon8:c.507+1G>C;NM_001199342:exon8:c.507+1G>C);RPL17-C18orf32(NM_001199355:exon6:c.507+1G>C;NM_001199356:exon6:c.393+1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.507+1G>C;ENST00000332968:exon5:c.393+1G>C;ENST00000577910:exon6:c.507+1G>C);ENSG00000265681(ENST00000580261:exon7:c.507+1G>C;ENST00000581373:exon6:c.393+1G>C;ENST00000579248:exon7:c.507+1G>C;ENST00000579408:exon6:c.507+1G>C;ENST00000418495:exon7:c.507+1G>C;ENST00000580210:exon6:c.477+1G>C;ENST00000583637:exon8:c.507+1G>C;ENST00000578532:exon7:c.507+1G>C)	.	.	0.99995299556238	0.852
18	47015728	C	T	18	49489358	y	y	splicing	RPL17(NM_000985:exon7:c.507+1G>A;NM_001199345:exon6:c.393+1G>A;NM_001199344:exon7:c.507+1G>A;NM_001199343:exon8:c.507+1G>A;NM_001035006:exon7:c.507+1G>A;NM_001199341:exon7:c.507+1G>A;NM_001199340:exon8:c.507+1G>A;NM_001199342:exon8:c.507+1G>A);RPL17-C18orf32(NM_001199355:exon6:c.507+1G>A;NM_001199356:exon6:c.393+1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.507+1G>A;ENST00000332968:exon5:c.393+1G>A;ENST00000577910:exon6:c.507+1G>A);ENSG00000265681(ENST00000580261:exon7:c.507+1G>A;ENST00000581373:exon6:c.393+1G>A;ENST00000579248:exon7:c.507+1G>A;ENST00000579408:exon6:c.507+1G>A;ENST00000418495:exon7:c.507+1G>A;ENST00000580210:exon6:c.477+1G>A;ENST00000583637:exon8:c.507+1G>A;ENST00000578532:exon7:c.507+1G>A)	.	.	0.999952286258862	0.87
18	47015729	C	A	18	49489359	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G393T:p.K131N;RPL17:NM_001199340:exon7:c.G507T:p.K169N;RPL17:NM_001199341:exon6:c.G507T:p.K169N;RPL17:NM_001199342:exon7:c.G507T:p.K169N;RPL17:NM_000985:exon6:c.G507T:p.K169N;RPL17:NM_001199343:exon7:c.G507T:p.K169N;RPL17:NM_001035006:exon6:c.G507T:p.K169N;RPL17:NM_001199345:exon5:c.G393T:p.K131N;RPL17:NM_001199344:exon6:c.G507T:p.K169N;RPL17-C18orf32:NM_001199355:exon5:c.G507T:p.K169N;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G393T:p.K131N;ENSG00000265681:ENST00000578532:exon6:c.G507T:p.K169N;ENSG00000215472:ENST00000584895:exon5:c.G507T:p.K169N;ENSG00000265681:ENST00000418495:exon6:c.G507T:p.K169N;ENSG00000215472:ENST00000577910:exon5:c.G507T:p.K169N;ENSG00000265681:ENST00000580261:exon6:c.G507T:p.K169N;ENSG00000265681:ENST00000583637:exon7:c.G507T:p.K169N;ENSG00000265681:ENST00000581373:exon5:c.G393T:p.K131N;ENSG00000265681:ENST00000579248:exon6:c.G507T:p.K169N;ENSG00000265681:ENST00000579408:exon5:c.G507T:p.K169N;ENSG00000265681:ENST00000580210:exon5:c.G477T:p.K159N;	0.998609574121982	0.89
18	47015729	C	G	18	49489359	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G393C:p.K131N;RPL17:NM_001199340:exon7:c.G507C:p.K169N;RPL17:NM_001199341:exon6:c.G507C:p.K169N;RPL17:NM_001199342:exon7:c.G507C:p.K169N;RPL17:NM_000985:exon6:c.G507C:p.K169N;RPL17:NM_001199343:exon7:c.G507C:p.K169N;RPL17:NM_001035006:exon6:c.G507C:p.K169N;RPL17:NM_001199345:exon5:c.G393C:p.K131N;RPL17:NM_001199344:exon6:c.G507C:p.K169N;RPL17-C18orf32:NM_001199355:exon5:c.G507C:p.K169N;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G393C:p.K131N;ENSG00000265681:ENST00000578532:exon6:c.G507C:p.K169N;ENSG00000215472:ENST00000584895:exon5:c.G507C:p.K169N;ENSG00000265681:ENST00000418495:exon6:c.G507C:p.K169N;ENSG00000215472:ENST00000577910:exon5:c.G507C:p.K169N;ENSG00000265681:ENST00000580261:exon6:c.G507C:p.K169N;ENSG00000265681:ENST00000583637:exon7:c.G507C:p.K169N;ENSG00000265681:ENST00000581373:exon5:c.G393C:p.K131N;ENSG00000265681:ENST00000579248:exon6:c.G507C:p.K169N;ENSG00000265681:ENST00000579408:exon5:c.G507C:p.K169N;ENSG00000265681:ENST00000580210:exon5:c.G477C:p.K159N;	0.99996590744567	0.896
18	47015729	C	T	18	49489359	y	y	exonic	RPL17;RPL17-C18orf32	synonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G393A:p.K131K;RPL17:NM_001199340:exon7:c.G507A:p.K169K;RPL17:NM_001199341:exon6:c.G507A:p.K169K;RPL17:NM_001199342:exon7:c.G507A:p.K169K;RPL17:NM_000985:exon6:c.G507A:p.K169K;RPL17:NM_001199343:exon7:c.G507A:p.K169K;RPL17:NM_001035006:exon6:c.G507A:p.K169K;RPL17:NM_001199345:exon5:c.G393A:p.K131K;RPL17:NM_001199344:exon6:c.G507A:p.K169K;RPL17-C18orf32:NM_001199355:exon5:c.G507A:p.K169K;	exonic	ENSG00000215472;ENSG00000265681	synonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G393A:p.K131K;ENSG00000265681:ENST00000578532:exon6:c.G507A:p.K169K;ENSG00000215472:ENST00000584895:exon5:c.G507A:p.K169K;ENSG00000265681:ENST00000418495:exon6:c.G507A:p.K169K;ENSG00000215472:ENST00000577910:exon5:c.G507A:p.K169K;ENSG00000265681:ENST00000580261:exon6:c.G507A:p.K169K;ENSG00000265681:ENST00000583637:exon7:c.G507A:p.K169K;ENSG00000265681:ENST00000581373:exon5:c.G393A:p.K131K;ENSG00000265681:ENST00000579248:exon6:c.G507A:p.K169K;ENSG00000265681:ENST00000579408:exon5:c.G507A:p.K169K;ENSG00000265681:ENST00000580210:exon5:c.G477A:p.K159K;	0.997895799327504	0.94
18	47015730	T	A	18	49489360	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.A392T:p.K131M;RPL17:NM_001199340:exon7:c.A506T:p.K169M;RPL17:NM_001199341:exon6:c.A506T:p.K169M;RPL17:NM_001199342:exon7:c.A506T:p.K169M;RPL17:NM_000985:exon6:c.A506T:p.K169M;RPL17:NM_001199343:exon7:c.A506T:p.K169M;RPL17:NM_001035006:exon6:c.A506T:p.K169M;RPL17:NM_001199345:exon5:c.A392T:p.K131M;RPL17:NM_001199344:exon6:c.A506T:p.K169M;RPL17-C18orf32:NM_001199355:exon5:c.A506T:p.K169M;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.A392T:p.K131M;ENSG00000265681:ENST00000578532:exon6:c.A506T:p.K169M;ENSG00000215472:ENST00000584895:exon5:c.A506T:p.K169M;ENSG00000265681:ENST00000418495:exon6:c.A506T:p.K169M;ENSG00000215472:ENST00000577910:exon5:c.A506T:p.K169M;ENSG00000265681:ENST00000580261:exon6:c.A506T:p.K169M;ENSG00000265681:ENST00000583637:exon7:c.A506T:p.K169M;ENSG00000265681:ENST00000581373:exon5:c.A392T:p.K131M;ENSG00000265681:ENST00000579248:exon6:c.A506T:p.K169M;ENSG00000265681:ENST00000579408:exon5:c.A506T:p.K169M;ENSG00000265681:ENST00000580210:exon5:c.A476T:p.K159M;	0.997295572152879	0.896
18	47015730	T	C	18	49489360	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.A392G:p.K131R;RPL17:NM_001199340:exon7:c.A506G:p.K169R;RPL17:NM_001199341:exon6:c.A506G:p.K169R;RPL17:NM_001199342:exon7:c.A506G:p.K169R;RPL17:NM_000985:exon6:c.A506G:p.K169R;RPL17:NM_001199343:exon7:c.A506G:p.K169R;RPL17:NM_001035006:exon6:c.A506G:p.K169R;RPL17:NM_001199345:exon5:c.A392G:p.K131R;RPL17:NM_001199344:exon6:c.A506G:p.K169R;RPL17-C18orf32:NM_001199355:exon5:c.A506G:p.K169R;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.A392G:p.K131R;ENSG00000265681:ENST00000578532:exon6:c.A506G:p.K169R;ENSG00000215472:ENST00000584895:exon5:c.A506G:p.K169R;ENSG00000265681:ENST00000418495:exon6:c.A506G:p.K169R;ENSG00000215472:ENST00000577910:exon5:c.A506G:p.K169R;ENSG00000265681:ENST00000580261:exon6:c.A506G:p.K169R;ENSG00000265681:ENST00000583637:exon7:c.A506G:p.K169R;ENSG00000265681:ENST00000581373:exon5:c.A392G:p.K131R;ENSG00000265681:ENST00000579248:exon6:c.A506G:p.K169R;ENSG00000265681:ENST00000579408:exon5:c.A506G:p.K169R;ENSG00000265681:ENST00000580210:exon5:c.A476G:p.K159R;	0.983804245020815	0.804
18	47015730	T	G	18	49489360	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.A392C:p.K131T;RPL17:NM_001199340:exon7:c.A506C:p.K169T;RPL17:NM_001199341:exon6:c.A506C:p.K169T;RPL17:NM_001199342:exon7:c.A506C:p.K169T;RPL17:NM_000985:exon6:c.A506C:p.K169T;RPL17:NM_001199343:exon7:c.A506C:p.K169T;RPL17:NM_001035006:exon6:c.A506C:p.K169T;RPL17:NM_001199345:exon5:c.A392C:p.K131T;RPL17:NM_001199344:exon6:c.A506C:p.K169T;RPL17-C18orf32:NM_001199355:exon5:c.A506C:p.K169T;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.A392C:p.K131T;ENSG00000265681:ENST00000578532:exon6:c.A506C:p.K169T;ENSG00000215472:ENST00000584895:exon5:c.A506C:p.K169T;ENSG00000265681:ENST00000418495:exon6:c.A506C:p.K169T;ENSG00000215472:ENST00000577910:exon5:c.A506C:p.K169T;ENSG00000265681:ENST00000580261:exon6:c.A506C:p.K169T;ENSG00000265681:ENST00000583637:exon7:c.A506C:p.K169T;ENSG00000265681:ENST00000581373:exon5:c.A392C:p.K131T;ENSG00000265681:ENST00000579248:exon6:c.A506C:p.K169T;ENSG00000265681:ENST00000579408:exon5:c.A506C:p.K169T;ENSG00000265681:ENST00000580210:exon5:c.A476C:p.K159T;	0.923224542486002	0.66
18	47015731	T	A	18	49489361	y	y	exonic	RPL17;RPL17-C18orf32	stopgain SNV	RPL17-C18orf32:NM_001199356:exon5:c.A391T:p.K131X;RPL17:NM_001199340:exon7:c.A505T:p.K169X;RPL17:NM_001199341:exon6:c.A505T:p.K169X;RPL17:NM_001199342:exon7:c.A505T:p.K169X;RPL17:NM_000985:exon6:c.A505T:p.K169X;RPL17:NM_001199343:exon7:c.A505T:p.K169X;RPL17:NM_001035006:exon6:c.A505T:p.K169X;RPL17:NM_001199345:exon5:c.A391T:p.K131X;RPL17:NM_001199344:exon6:c.A505T:p.K169X;RPL17-C18orf32:NM_001199355:exon5:c.A505T:p.K169X;	exonic	ENSG00000215472;ENSG00000265681	stopgain SNV	ENSG00000215472:ENST00000332968:exon4:c.A391T:p.K131X;ENSG00000265681:ENST00000578532:exon6:c.A505T:p.K169X;ENSG00000215472:ENST00000584895:exon5:c.A505T:p.K169X;ENSG00000265681:ENST00000418495:exon6:c.A505T:p.K169X;ENSG00000215472:ENST00000577910:exon5:c.A505T:p.K169X;ENSG00000265681:ENST00000580261:exon6:c.A505T:p.K169X;ENSG00000265681:ENST00000583637:exon7:c.A505T:p.K169X;ENSG00000265681:ENST00000581373:exon5:c.A391T:p.K131X;ENSG00000265681:ENST00000579248:exon6:c.A505T:p.K169X;ENSG00000265681:ENST00000579408:exon5:c.A505T:p.K169X;ENSG00000265681:ENST00000580210:exon5:c.A475T:p.K159X;	0.920675660591922	0.64
18	47015731	T	C	18	49489361	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.A391G:p.K131E;RPL17:NM_001199340:exon7:c.A505G:p.K169E;RPL17:NM_001199341:exon6:c.A505G:p.K169E;RPL17:NM_001199342:exon7:c.A505G:p.K169E;RPL17:NM_000985:exon6:c.A505G:p.K169E;RPL17:NM_001199343:exon7:c.A505G:p.K169E;RPL17:NM_001035006:exon6:c.A505G:p.K169E;RPL17:NM_001199345:exon5:c.A391G:p.K131E;RPL17:NM_001199344:exon6:c.A505G:p.K169E;RPL17-C18orf32:NM_001199355:exon5:c.A505G:p.K169E;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.A391G:p.K131E;ENSG00000265681:ENST00000578532:exon6:c.A505G:p.K169E;ENSG00000215472:ENST00000584895:exon5:c.A505G:p.K169E;ENSG00000265681:ENST00000418495:exon6:c.A505G:p.K169E;ENSG00000215472:ENST00000577910:exon5:c.A505G:p.K169E;ENSG00000265681:ENST00000580261:exon6:c.A505G:p.K169E;ENSG00000265681:ENST00000583637:exon7:c.A505G:p.K169E;ENSG00000265681:ENST00000581373:exon5:c.A391G:p.K131E;ENSG00000265681:ENST00000579248:exon6:c.A505G:p.K169E;ENSG00000265681:ENST00000579408:exon5:c.A505G:p.K169E;ENSG00000265681:ENST00000580210:exon5:c.A475G:p.K159E;	0.0734861192907694	0.32
18	47015731	T	G	18	49489361	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.A391C:p.K131Q;RPL17:NM_001199340:exon7:c.A505C:p.K169Q;RPL17:NM_001199341:exon6:c.A505C:p.K169Q;RPL17:NM_001199342:exon7:c.A505C:p.K169Q;RPL17:NM_000985:exon6:c.A505C:p.K169Q;RPL17:NM_001199343:exon7:c.A505C:p.K169Q;RPL17:NM_001035006:exon6:c.A505C:p.K169Q;RPL17:NM_001199345:exon5:c.A391C:p.K131Q;RPL17:NM_001199344:exon6:c.A505C:p.K169Q;RPL17-C18orf32:NM_001199355:exon5:c.A505C:p.K169Q;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.A391C:p.K131Q;ENSG00000265681:ENST00000578532:exon6:c.A505C:p.K169Q;ENSG00000215472:ENST00000584895:exon5:c.A505C:p.K169Q;ENSG00000265681:ENST00000418495:exon6:c.A505C:p.K169Q;ENSG00000215472:ENST00000577910:exon5:c.A505C:p.K169Q;ENSG00000265681:ENST00000580261:exon6:c.A505C:p.K169Q;ENSG00000265681:ENST00000583637:exon7:c.A505C:p.K169Q;ENSG00000265681:ENST00000581373:exon5:c.A391C:p.K131Q;ENSG00000265681:ENST00000579248:exon6:c.A505C:p.K169Q;ENSG00000265681:ENST00000579408:exon5:c.A505C:p.K169Q;ENSG00000265681:ENST00000580210:exon5:c.A475C:p.K159Q;	0.475925378839145	0.522
18	47015919	C	A	18	49489549	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G203T:p.G68V;RPL17:NM_001199340:exon7:c.G317T:p.G106V;RPL17:NM_001199341:exon6:c.G317T:p.G106V;RPL17:NM_001199342:exon7:c.G317T:p.G106V;RPL17:NM_000985:exon6:c.G317T:p.G106V;RPL17:NM_001199343:exon7:c.G317T:p.G106V;RPL17:NM_001035006:exon6:c.G317T:p.G106V;RPL17:NM_001199345:exon5:c.G203T:p.G68V;RPL17:NM_001199344:exon6:c.G317T:p.G106V;RPL17-C18orf32:NM_001199355:exon5:c.G317T:p.G106V;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G203T:p.G68V;ENSG00000265681:ENST00000578532:exon6:c.G317T:p.G106V;ENSG00000215472:ENST00000584895:exon5:c.G317T:p.G106V;ENSG00000265681:ENST00000418495:exon6:c.G317T:p.G106V;ENSG00000215472:ENST00000577910:exon5:c.G317T:p.G106V;ENSG00000265681:ENST00000580261:exon6:c.G317T:p.G106V;ENSG00000265681:ENST00000583637:exon7:c.G317T:p.G106V;ENSG00000265681:ENST00000581373:exon5:c.G203T:p.G68V;ENSG00000265681:ENST00000583036:exon7:c.G317T:p.G106V;ENSG00000265681:ENST00000579248:exon6:c.G317T:p.G106V;ENSG00000265681:ENST00000579408:exon5:c.G317T:p.G106V;ENSG00000265681:ENST00000580210:exon5:c.G287T:p.G96V;	0.868998329073022	0.824
18	47015919	C	G	18	49489549	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G203C:p.G68A;RPL17:NM_001199340:exon7:c.G317C:p.G106A;RPL17:NM_001199341:exon6:c.G317C:p.G106A;RPL17:NM_001199342:exon7:c.G317C:p.G106A;RPL17:NM_000985:exon6:c.G317C:p.G106A;RPL17:NM_001199343:exon7:c.G317C:p.G106A;RPL17:NM_001035006:exon6:c.G317C:p.G106A;RPL17:NM_001199345:exon5:c.G203C:p.G68A;RPL17:NM_001199344:exon6:c.G317C:p.G106A;RPL17-C18orf32:NM_001199355:exon5:c.G317C:p.G106A;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G203C:p.G68A;ENSG00000265681:ENST00000578532:exon6:c.G317C:p.G106A;ENSG00000215472:ENST00000584895:exon5:c.G317C:p.G106A;ENSG00000265681:ENST00000418495:exon6:c.G317C:p.G106A;ENSG00000215472:ENST00000577910:exon5:c.G317C:p.G106A;ENSG00000265681:ENST00000580261:exon6:c.G317C:p.G106A;ENSG00000265681:ENST00000583637:exon7:c.G317C:p.G106A;ENSG00000265681:ENST00000581373:exon5:c.G203C:p.G68A;ENSG00000265681:ENST00000583036:exon7:c.G317C:p.G106A;ENSG00000265681:ENST00000579248:exon6:c.G317C:p.G106A;ENSG00000265681:ENST00000579408:exon5:c.G317C:p.G106A;ENSG00000265681:ENST00000580210:exon5:c.G287C:p.G96A;	0.390860851933773	0.652
18	47015919	C	T	18	49489549	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G203A:p.G68D;RPL17:NM_001199340:exon7:c.G317A:p.G106D;RPL17:NM_001199341:exon6:c.G317A:p.G106D;RPL17:NM_001199342:exon7:c.G317A:p.G106D;RPL17:NM_000985:exon6:c.G317A:p.G106D;RPL17:NM_001199343:exon7:c.G317A:p.G106D;RPL17:NM_001035006:exon6:c.G317A:p.G106D;RPL17:NM_001199345:exon5:c.G203A:p.G68D;RPL17:NM_001199344:exon6:c.G317A:p.G106D;RPL17-C18orf32:NM_001199355:exon5:c.G317A:p.G106D;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G203A:p.G68D;ENSG00000265681:ENST00000578532:exon6:c.G317A:p.G106D;ENSG00000215472:ENST00000584895:exon5:c.G317A:p.G106D;ENSG00000265681:ENST00000418495:exon6:c.G317A:p.G106D;ENSG00000215472:ENST00000577910:exon5:c.G317A:p.G106D;ENSG00000265681:ENST00000580261:exon6:c.G317A:p.G106D;ENSG00000265681:ENST00000583637:exon7:c.G317A:p.G106D;ENSG00000265681:ENST00000581373:exon5:c.G203A:p.G68D;ENSG00000265681:ENST00000583036:exon7:c.G317A:p.G106D;ENSG00000265681:ENST00000579248:exon6:c.G317A:p.G106D;ENSG00000265681:ENST00000579408:exon5:c.G317A:p.G106D;ENSG00000265681:ENST00000580210:exon5:c.G287A:p.G96D;	0.758215590057538	0.738
18	47015920	C	A	18	49489550	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G202T:p.G68C;RPL17:NM_001199340:exon7:c.G316T:p.G106C;RPL17:NM_001199341:exon6:c.G316T:p.G106C;RPL17:NM_001199342:exon7:c.G316T:p.G106C;RPL17:NM_000985:exon6:c.G316T:p.G106C;RPL17:NM_001199343:exon7:c.G316T:p.G106C;RPL17:NM_001035006:exon6:c.G316T:p.G106C;RPL17:NM_001199345:exon5:c.G202T:p.G68C;RPL17:NM_001199344:exon6:c.G316T:p.G106C;RPL17-C18orf32:NM_001199355:exon5:c.G316T:p.G106C;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G202T:p.G68C;ENSG00000265681:ENST00000578532:exon6:c.G316T:p.G106C;ENSG00000215472:ENST00000584895:exon5:c.G316T:p.G106C;ENSG00000265681:ENST00000418495:exon6:c.G316T:p.G106C;ENSG00000215472:ENST00000577910:exon5:c.G316T:p.G106C;ENSG00000265681:ENST00000580261:exon6:c.G316T:p.G106C;ENSG00000265681:ENST00000583637:exon7:c.G316T:p.G106C;ENSG00000265681:ENST00000581373:exon5:c.G202T:p.G68C;ENSG00000265681:ENST00000583036:exon7:c.G316T:p.G106C;ENSG00000265681:ENST00000579248:exon6:c.G316T:p.G106C;ENSG00000265681:ENST00000579408:exon5:c.G316T:p.G106C;ENSG00000265681:ENST00000580210:exon5:c.G286T:p.G96C;	0.993415594531527	0.92
18	47015920	C	G	18	49489550	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G202C:p.G68R;RPL17:NM_001199340:exon7:c.G316C:p.G106R;RPL17:NM_001199341:exon6:c.G316C:p.G106R;RPL17:NM_001199342:exon7:c.G316C:p.G106R;RPL17:NM_000985:exon6:c.G316C:p.G106R;RPL17:NM_001199343:exon7:c.G316C:p.G106R;RPL17:NM_001035006:exon6:c.G316C:p.G106R;RPL17:NM_001199345:exon5:c.G202C:p.G68R;RPL17:NM_001199344:exon6:c.G316C:p.G106R;RPL17-C18orf32:NM_001199355:exon5:c.G316C:p.G106R;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G202C:p.G68R;ENSG00000265681:ENST00000578532:exon6:c.G316C:p.G106R;ENSG00000215472:ENST00000584895:exon5:c.G316C:p.G106R;ENSG00000265681:ENST00000418495:exon6:c.G316C:p.G106R;ENSG00000215472:ENST00000577910:exon5:c.G316C:p.G106R;ENSG00000265681:ENST00000580261:exon6:c.G316C:p.G106R;ENSG00000265681:ENST00000583637:exon7:c.G316C:p.G106R;ENSG00000265681:ENST00000581373:exon5:c.G202C:p.G68R;ENSG00000265681:ENST00000583036:exon7:c.G316C:p.G106R;ENSG00000265681:ENST00000579248:exon6:c.G316C:p.G106R;ENSG00000265681:ENST00000579408:exon5:c.G316C:p.G106R;ENSG00000265681:ENST00000580210:exon5:c.G286C:p.G96R;	0.996010775715063	0.926
18	47015920	C	T	18	49489550	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon5:c.G202A:p.G68S;RPL17:NM_001199340:exon7:c.G316A:p.G106S;RPL17:NM_001199341:exon6:c.G316A:p.G106S;RPL17:NM_001199342:exon7:c.G316A:p.G106S;RPL17:NM_000985:exon6:c.G316A:p.G106S;RPL17:NM_001199343:exon7:c.G316A:p.G106S;RPL17:NM_001035006:exon6:c.G316A:p.G106S;RPL17:NM_001199345:exon5:c.G202A:p.G68S;RPL17:NM_001199344:exon6:c.G316A:p.G106S;RPL17-C18orf32:NM_001199355:exon5:c.G316A:p.G106S;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon4:c.G202A:p.G68S;ENSG00000265681:ENST00000578532:exon6:c.G316A:p.G106S;ENSG00000215472:ENST00000584895:exon5:c.G316A:p.G106S;ENSG00000265681:ENST00000418495:exon6:c.G316A:p.G106S;ENSG00000215472:ENST00000577910:exon5:c.G316A:p.G106S;ENSG00000265681:ENST00000580261:exon6:c.G316A:p.G106S;ENSG00000265681:ENST00000583637:exon7:c.G316A:p.G106S;ENSG00000265681:ENST00000581373:exon5:c.G202A:p.G68S;ENSG00000265681:ENST00000583036:exon7:c.G316A:p.G106S;ENSG00000265681:ENST00000579248:exon6:c.G316A:p.G106S;ENSG00000265681:ENST00000579408:exon5:c.G316A:p.G106S;ENSG00000265681:ENST00000580210:exon5:c.G286A:p.G96S;	0.926690800727405	0.626
18	47015921	C	A	18	49489551	y	y	splicing	RPL17(NM_000985:exon7:c.316-1G>T;NM_001199345:exon6:c.202-1G>T;NM_001199344:exon7:c.316-1G>T;NM_001199343:exon8:c.316-1G>T;NM_001035006:exon7:c.316-1G>T;NM_001199341:exon7:c.316-1G>T;NM_001199340:exon8:c.316-1G>T;NM_001199342:exon8:c.316-1G>T);RPL17-C18orf32(NM_001199355:exon6:c.316-1G>T;NM_001199356:exon6:c.202-1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.316-1G>T;ENST00000332968:exon5:c.202-1G>T;ENST00000577910:exon6:c.316-1G>T);ENSG00000265681(ENST00000580261:exon7:c.316-1G>T;ENST00000581373:exon6:c.202-1G>T;ENST00000579248:exon7:c.316-1G>T;ENST00000579408:exon6:c.316-1G>T;ENST00000418495:exon7:c.316-1G>T;ENST00000580210:exon6:c.286-1G>T;ENST00000583637:exon8:c.316-1G>T;ENST00000578532:exon7:c.316-1G>T;ENST00000583036:exon8:c.316-1G>T;ENST00000580387:exon7:c.316-1G>T)	.	.	0.999948032484598	0.942
18	47015921	C	G	18	49489551	y	y	splicing	RPL17(NM_000985:exon7:c.316-1G>C;NM_001199345:exon6:c.202-1G>C;NM_001199344:exon7:c.316-1G>C;NM_001199343:exon8:c.316-1G>C;NM_001035006:exon7:c.316-1G>C;NM_001199341:exon7:c.316-1G>C;NM_001199340:exon8:c.316-1G>C;NM_001199342:exon8:c.316-1G>C);RPL17-C18orf32(NM_001199355:exon6:c.316-1G>C;NM_001199356:exon6:c.202-1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.316-1G>C;ENST00000332968:exon5:c.202-1G>C;ENST00000577910:exon6:c.316-1G>C);ENSG00000265681(ENST00000580261:exon7:c.316-1G>C;ENST00000581373:exon6:c.202-1G>C;ENST00000579248:exon7:c.316-1G>C;ENST00000579408:exon6:c.316-1G>C;ENST00000418495:exon7:c.316-1G>C;ENST00000580210:exon6:c.286-1G>C;ENST00000583637:exon8:c.316-1G>C;ENST00000578532:exon7:c.316-1G>C;ENST00000583036:exon8:c.316-1G>C;ENST00000580387:exon7:c.316-1G>C)	.	.	0.999966099229508	0.94
18	47015921	C	T	18	49489551	y	y	splicing	RPL17(NM_000985:exon7:c.316-1G>A;NM_001199345:exon6:c.202-1G>A;NM_001199344:exon7:c.316-1G>A;NM_001199343:exon8:c.316-1G>A;NM_001035006:exon7:c.316-1G>A;NM_001199341:exon7:c.316-1G>A;NM_001199340:exon8:c.316-1G>A;NM_001199342:exon8:c.316-1G>A);RPL17-C18orf32(NM_001199355:exon6:c.316-1G>A;NM_001199356:exon6:c.202-1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.316-1G>A;ENST00000332968:exon5:c.202-1G>A;ENST00000577910:exon6:c.316-1G>A);ENSG00000265681(ENST00000580261:exon7:c.316-1G>A;ENST00000581373:exon6:c.202-1G>A;ENST00000579248:exon7:c.316-1G>A;ENST00000579408:exon6:c.316-1G>A;ENST00000418495:exon7:c.316-1G>A;ENST00000580210:exon6:c.286-1G>A;ENST00000583637:exon8:c.316-1G>A;ENST00000578532:exon7:c.316-1G>A;ENST00000583036:exon8:c.316-1G>A;ENST00000580387:exon7:c.316-1G>A)	.	.	0.999948032484598	0.946
18	47015922	T	A	18	49489552	y	y	splicing	RPL17(NM_000985:exon7:c.316-2A>T;NM_001199345:exon6:c.202-2A>T;NM_001199344:exon7:c.316-2A>T;NM_001199343:exon8:c.316-2A>T;NM_001035006:exon7:c.316-2A>T;NM_001199341:exon7:c.316-2A>T;NM_001199340:exon8:c.316-2A>T;NM_001199342:exon8:c.316-2A>T);RPL17-C18orf32(NM_001199355:exon6:c.316-2A>T;NM_001199356:exon6:c.202-2A>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.316-2A>T;ENST00000332968:exon5:c.202-2A>T;ENST00000577910:exon6:c.316-2A>T);ENSG00000265681(ENST00000580261:exon7:c.316-2A>T;ENST00000581373:exon6:c.202-2A>T;ENST00000579248:exon7:c.316-2A>T;ENST00000579408:exon6:c.316-2A>T;ENST00000418495:exon7:c.316-2A>T;ENST00000580210:exon6:c.286-2A>T;ENST00000583637:exon8:c.316-2A>T;ENST00000578532:exon7:c.316-2A>T;ENST00000583036:exon8:c.316-2A>T;ENST00000580387:exon7:c.316-2A>T)	.	.	0.999972155025474	0.864
18	47015922	T	C	18	49489552	y	y	splicing	RPL17(NM_000985:exon7:c.316-2A>G;NM_001199345:exon6:c.202-2A>G;NM_001199344:exon7:c.316-2A>G;NM_001199343:exon8:c.316-2A>G;NM_001035006:exon7:c.316-2A>G;NM_001199341:exon7:c.316-2A>G;NM_001199340:exon8:c.316-2A>G;NM_001199342:exon8:c.316-2A>G);RPL17-C18orf32(NM_001199355:exon6:c.316-2A>G;NM_001199356:exon6:c.202-2A>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.316-2A>G;ENST00000332968:exon5:c.202-2A>G;ENST00000577910:exon6:c.316-2A>G);ENSG00000265681(ENST00000580261:exon7:c.316-2A>G;ENST00000581373:exon6:c.202-2A>G;ENST00000579248:exon7:c.316-2A>G;ENST00000579408:exon6:c.316-2A>G;ENST00000418495:exon7:c.316-2A>G;ENST00000580210:exon6:c.286-2A>G;ENST00000583637:exon8:c.316-2A>G;ENST00000578532:exon7:c.316-2A>G;ENST00000583036:exon8:c.316-2A>G;ENST00000580387:exon7:c.316-2A>G)	.	.	0.999969255906173	0.864
18	47015922	T	G	18	49489552	y	y	splicing	RPL17(NM_000985:exon7:c.316-2A>C;NM_001199345:exon6:c.202-2A>C;NM_001199344:exon7:c.316-2A>C;NM_001199343:exon8:c.316-2A>C;NM_001035006:exon7:c.316-2A>C;NM_001199341:exon7:c.316-2A>C;NM_001199340:exon8:c.316-2A>C;NM_001199342:exon8:c.316-2A>C);RPL17-C18orf32(NM_001199355:exon6:c.316-2A>C;NM_001199356:exon6:c.202-2A>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon6:c.316-2A>C;ENST00000332968:exon5:c.202-2A>C;ENST00000577910:exon6:c.316-2A>C);ENSG00000265681(ENST00000580261:exon7:c.316-2A>C;ENST00000581373:exon6:c.202-2A>C;ENST00000579248:exon7:c.316-2A>C;ENST00000579408:exon6:c.316-2A>C;ENST00000418495:exon7:c.316-2A>C;ENST00000580210:exon6:c.286-2A>C;ENST00000583637:exon8:c.316-2A>C;ENST00000578532:exon7:c.316-2A>C;ENST00000583036:exon8:c.316-2A>C;ENST00000580387:exon7:c.316-2A>C)	.	.	0.999969255906173	0.862
18	47015923	G	A	18	49489553	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.73974534425943E-4	0.03
18	47015923	G	C	18	49489553	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.959792978173267	0.596
18	47015923	G	T	18	49489553	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0217229866488653	0.266
18	47015924	G	A	18	49489554	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.34804234922182E-5	0.0
18	47015924	G	C	18	49489554	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.34804234922182E-5	0.012
18	47015924	G	T	18	49489554	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.34804234922182E-5	0.0
18	47015925	G	A	18	49489555	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.49375384539763E-5	0.0
18	47015925	G	C	18	49489555	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.47884346825518E-4	0.06
18	47015925	G	T	18	49489555	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.081738547604E-4	0.024
18	47015926	G	A	18	49489556	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.77654823256952E-5	0.02
18	47015926	G	C	18	49489556	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00252982165481742	0.07
18	47015926	G	T	18	49489556	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00201278271353639	0.074
18	47015927	A	C	18	49489557	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00291217735773802	0.048
18	47015927	A	G	18	49489557	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.46130116626173E-5	0.0
18	47015927	A	T	18	49489557	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0108135490706812	0.162
18	47015928	A	C	18	49489558	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.18295778171359E-4	0.022
18	47015928	A	G	18	49489558	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.4049092971817E-5	0.0
18	47015928	A	T	18	49489558	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.01064118978971E-4	0.022
18	47015929	G	A	18	49489559	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.33407209634268E-5	0.002
18	47015929	G	C	18	49489559	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	7.00230611895155E-4	0.014
18	47015929	G	T	18	49489559	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.88351265242106E-4	0.038
18	47015930	A	C	18	49489560	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.26381902779734E-4	0.044
18	47015930	A	G	18	49489560	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.07849203452592E-5	0.0
18	47015930	A	T	18	49489560	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.46998085087702E-4	0.022
18	47015931	A	C	18	49489561	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.34663275097577E-4	0.09
18	47015931	A	G	18	49489561	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	7.81677299837008E-5	0.018
18	47015931	A	T	18	49489561	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.74101379164604E-4	0.046
18	47015932	A	C	18	49489562	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.0447692098261E-5	0.012
18	47015932	A	G	18	49489562	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.49722917063812E-5	0.0
18	47015932	A	T	18	49489562	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.29583968792902E-4	0.03
18	47016816	T	A	18	49490446	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.82009223773432E-4	0.074
18	47016816	T	C	18	49490446	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.28152793315417E-4	0.018
18	47016816	T	G	18	49490446	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.18064007405369E-4	0.076
18	47016817	T	A	18	49490447	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.72911246718728E-5	0.016
18	47016817	T	C	18	49490447	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	9.07652180404417E-5	0.066
18	47016817	T	G	18	49490447	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	9.3184530834952E-5	0.056
18	47016818	G	A	18	49490448	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.91887790787967E-5	0.018
18	47016818	G	C	18	49490448	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.79384558369302E-5	0.066
18	47016818	G	T	18	49490448	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.11620560328271E-4	0.03
18	47016819	G	A	18	49490449	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.83435414160578E-4	0.08
18	47016819	G	C	18	49490449	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.69844498012592E-4	0.066
18	47016819	G	T	18	49490449	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.17624872131918E-4	0.094
18	47016820	G	A	18	49490450	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00131463509086872	0.2
18	47016820	G	C	18	49490450	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.98453930917298E-4	0.176
18	47016820	G	T	18	49490450	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.42449898618529E-4	0.08
18	47016821	T	A	18	49490451	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.999979939727161	0.994
18	47016821	T	C	18	49490451	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.998971806213763	0.986
18	47016821	T	G	18	49490451	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.999965815086257	0.982
18	47016822	A	C	18	49490452	y	y	splicing	RPL17(NM_000985:exon6:c.315+2T>G;NM_001199345:exon5:c.201+2T>G;NM_001199344:exon6:c.315+2T>G;NM_001199343:exon7:c.315+2T>G;NM_001035006:exon6:c.315+2T>G;NM_001199341:exon6:c.315+2T>G;NM_001199340:exon7:c.315+2T>G;NM_001199342:exon7:c.315+2T>G);RPL17-C18orf32(NM_001199355:exon5:c.315+2T>G;NM_001199356:exon5:c.201+2T>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.315+2T>G;ENST00000332968:exon4:c.201+2T>G;ENST00000577910:exon5:c.315+2T>G);ENSG00000265681(ENST00000580261:exon6:c.315+2T>G;ENST00000581373:exon5:c.201+2T>G;ENST00000579248:exon6:c.315+2T>G;ENST00000579408:exon5:c.315+2T>G;ENST00000418495:exon6:c.315+2T>G;ENST00000580210:exon5:c.285+2T>G;ENST00000583637:exon7:c.315+2T>G;ENST00000578532:exon6:c.315+2T>G;ENST00000583036:exon7:c.315+2T>G;ENST00000580387:exon6:c.315+2T>G)	.	.	0.999975706799895	0.94
18	47016822	A	G	18	49490452	y	y	splicing	RPL17(NM_000985:exon6:c.315+2T>C;NM_001199345:exon5:c.201+2T>C;NM_001199344:exon6:c.315+2T>C;NM_001199343:exon7:c.315+2T>C;NM_001035006:exon6:c.315+2T>C;NM_001199341:exon6:c.315+2T>C;NM_001199340:exon7:c.315+2T>C;NM_001199342:exon7:c.315+2T>C);RPL17-C18orf32(NM_001199355:exon5:c.315+2T>C;NM_001199356:exon5:c.201+2T>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.315+2T>C;ENST00000332968:exon4:c.201+2T>C;ENST00000577910:exon5:c.315+2T>C);ENSG00000265681(ENST00000580261:exon6:c.315+2T>C;ENST00000581373:exon5:c.201+2T>C;ENST00000579248:exon6:c.315+2T>C;ENST00000579408:exon5:c.315+2T>C;ENST00000418495:exon6:c.315+2T>C;ENST00000580210:exon5:c.285+2T>C;ENST00000583637:exon7:c.315+2T>C;ENST00000578532:exon6:c.315+2T>C;ENST00000583036:exon7:c.315+2T>C;ENST00000580387:exon6:c.315+2T>C)	.	.	0.98690015159845	0.654
18	47016822	A	T	18	49490452	y	y	splicing	RPL17(NM_000985:exon6:c.315+2T>A;NM_001199345:exon5:c.201+2T>A;NM_001199344:exon6:c.315+2T>A;NM_001199343:exon7:c.315+2T>A;NM_001035006:exon6:c.315+2T>A;NM_001199341:exon6:c.315+2T>A;NM_001199340:exon7:c.315+2T>A;NM_001199342:exon7:c.315+2T>A);RPL17-C18orf32(NM_001199355:exon5:c.315+2T>A;NM_001199356:exon5:c.201+2T>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.315+2T>A;ENST00000332968:exon4:c.201+2T>A;ENST00000577910:exon5:c.315+2T>A);ENSG00000265681(ENST00000580261:exon6:c.315+2T>A;ENST00000581373:exon5:c.201+2T>A;ENST00000579248:exon6:c.315+2T>A;ENST00000579408:exon5:c.315+2T>A;ENST00000418495:exon6:c.315+2T>A;ENST00000580210:exon5:c.285+2T>A;ENST00000583637:exon7:c.315+2T>A;ENST00000578532:exon6:c.315+2T>A;ENST00000583036:exon7:c.315+2T>A;ENST00000580387:exon6:c.315+2T>A)	.	.	0.999975706799895	0.942
18	47016823	C	A	18	49490453	y	y	splicing	RPL17(NM_000985:exon6:c.315+1G>T;NM_001199345:exon5:c.201+1G>T;NM_001199344:exon6:c.315+1G>T;NM_001199343:exon7:c.315+1G>T;NM_001035006:exon6:c.315+1G>T;NM_001199341:exon6:c.315+1G>T;NM_001199340:exon7:c.315+1G>T;NM_001199342:exon7:c.315+1G>T);RPL17-C18orf32(NM_001199355:exon5:c.315+1G>T;NM_001199356:exon5:c.201+1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.315+1G>T;ENST00000332968:exon4:c.201+1G>T;ENST00000577910:exon5:c.315+1G>T);ENSG00000265681(ENST00000580261:exon6:c.315+1G>T;ENST00000581373:exon5:c.201+1G>T;ENST00000579248:exon6:c.315+1G>T;ENST00000579408:exon5:c.315+1G>T;ENST00000418495:exon6:c.315+1G>T;ENST00000580210:exon5:c.285+1G>T;ENST00000583637:exon7:c.315+1G>T;ENST00000578532:exon6:c.315+1G>T;ENST00000583036:exon7:c.315+1G>T;ENST00000580387:exon6:c.315+1G>T)	.	.	0.999981760802075	0.954
18	47016823	C	G	18	49490453	y	y	splicing	RPL17(NM_000985:exon6:c.315+1G>C;NM_001199345:exon5:c.201+1G>C;NM_001199344:exon6:c.315+1G>C;NM_001199343:exon7:c.315+1G>C;NM_001035006:exon6:c.315+1G>C;NM_001199341:exon6:c.315+1G>C;NM_001199340:exon7:c.315+1G>C;NM_001199342:exon7:c.315+1G>C);RPL17-C18orf32(NM_001199355:exon5:c.315+1G>C;NM_001199356:exon5:c.201+1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.315+1G>C;ENST00000332968:exon4:c.201+1G>C;ENST00000577910:exon5:c.315+1G>C);ENSG00000265681(ENST00000580261:exon6:c.315+1G>C;ENST00000581373:exon5:c.201+1G>C;ENST00000579248:exon6:c.315+1G>C;ENST00000579408:exon5:c.315+1G>C;ENST00000418495:exon6:c.315+1G>C;ENST00000580210:exon5:c.285+1G>C;ENST00000583637:exon7:c.315+1G>C;ENST00000578532:exon6:c.315+1G>C;ENST00000583036:exon7:c.315+1G>C;ENST00000580387:exon6:c.315+1G>C)	.	.	0.999981760802075	0.954
18	47016823	C	T	18	49490453	y	y	splicing	RPL17(NM_000985:exon6:c.315+1G>A;NM_001199345:exon5:c.201+1G>A;NM_001199344:exon6:c.315+1G>A;NM_001199343:exon7:c.315+1G>A;NM_001035006:exon6:c.315+1G>A;NM_001199341:exon6:c.315+1G>A;NM_001199340:exon7:c.315+1G>A;NM_001199342:exon7:c.315+1G>A);RPL17-C18orf32(NM_001199355:exon5:c.315+1G>A;NM_001199356:exon5:c.201+1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.315+1G>A;ENST00000332968:exon4:c.201+1G>A;ENST00000577910:exon5:c.315+1G>A);ENSG00000265681(ENST00000580261:exon6:c.315+1G>A;ENST00000581373:exon5:c.201+1G>A;ENST00000579248:exon6:c.315+1G>A;ENST00000579408:exon5:c.315+1G>A;ENST00000418495:exon6:c.315+1G>A;ENST00000580210:exon5:c.285+1G>A;ENST00000583637:exon7:c.315+1G>A;ENST00000578532:exon6:c.315+1G>A;ENST00000583036:exon7:c.315+1G>A;ENST00000580387:exon6:c.315+1G>A)	.	.	0.999981760802075	0.954
18	47016824	C	A	18	49490454	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.G201T:p.K67N;RPL17:NM_001199340:exon6:c.G315T:p.K105N;RPL17:NM_001199341:exon5:c.G315T:p.K105N;RPL17:NM_001199342:exon6:c.G315T:p.K105N;RPL17:NM_000985:exon5:c.G315T:p.K105N;RPL17:NM_001199343:exon6:c.G315T:p.K105N;RPL17:NM_001035006:exon5:c.G315T:p.K105N;RPL17:NM_001199345:exon4:c.G201T:p.K67N;RPL17:NM_001199344:exon5:c.G315T:p.K105N;RPL17-C18orf32:NM_001199355:exon4:c.G315T:p.K105N;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.G201T:p.K67N;ENSG00000265681:ENST00000578532:exon5:c.G315T:p.K105N;ENSG00000215472:ENST00000584895:exon4:c.G315T:p.K105N;ENSG00000265681:ENST00000418495:exon5:c.G315T:p.K105N;ENSG00000215472:ENST00000577910:exon4:c.G315T:p.K105N;ENSG00000265681:ENST00000580261:exon5:c.G315T:p.K105N;ENSG00000265681:ENST00000583637:exon6:c.G315T:p.K105N;ENSG00000265681:ENST00000581373:exon4:c.G201T:p.K67N;ENSG00000265681:ENST00000583036:exon6:c.G315T:p.K105N;ENSG00000265681:ENST00000580387:exon5:c.G315T:p.K105N;ENSG00000265681:ENST00000579248:exon5:c.G315T:p.K105N;ENSG00000265681:ENST00000579408:exon4:c.G315T:p.K105N;ENSG00000265681:ENST00000580210:exon4:c.G285T:p.K95N;	0.999990504180061	0.966
18	47016824	C	G	18	49490454	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.G201C:p.K67N;RPL17:NM_001199340:exon6:c.G315C:p.K105N;RPL17:NM_001199341:exon5:c.G315C:p.K105N;RPL17:NM_001199342:exon6:c.G315C:p.K105N;RPL17:NM_000985:exon5:c.G315C:p.K105N;RPL17:NM_001199343:exon6:c.G315C:p.K105N;RPL17:NM_001035006:exon5:c.G315C:p.K105N;RPL17:NM_001199345:exon4:c.G201C:p.K67N;RPL17:NM_001199344:exon5:c.G315C:p.K105N;RPL17-C18orf32:NM_001199355:exon4:c.G315C:p.K105N;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.G201C:p.K67N;ENSG00000265681:ENST00000578532:exon5:c.G315C:p.K105N;ENSG00000215472:ENST00000584895:exon4:c.G315C:p.K105N;ENSG00000265681:ENST00000418495:exon5:c.G315C:p.K105N;ENSG00000215472:ENST00000577910:exon4:c.G315C:p.K105N;ENSG00000265681:ENST00000580261:exon5:c.G315C:p.K105N;ENSG00000265681:ENST00000583637:exon6:c.G315C:p.K105N;ENSG00000265681:ENST00000581373:exon4:c.G201C:p.K67N;ENSG00000265681:ENST00000583036:exon6:c.G315C:p.K105N;ENSG00000265681:ENST00000580387:exon5:c.G315C:p.K105N;ENSG00000265681:ENST00000579248:exon5:c.G315C:p.K105N;ENSG00000265681:ENST00000579408:exon4:c.G315C:p.K105N;ENSG00000265681:ENST00000580210:exon4:c.G285C:p.K95N;	0.999994865199529	0.99
18	47016824	C	T	18	49490454	y	y	exonic	RPL17;RPL17-C18orf32	synonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.G201A:p.K67K;RPL17:NM_001199340:exon6:c.G315A:p.K105K;RPL17:NM_001199341:exon5:c.G315A:p.K105K;RPL17:NM_001199342:exon6:c.G315A:p.K105K;RPL17:NM_000985:exon5:c.G315A:p.K105K;RPL17:NM_001199343:exon6:c.G315A:p.K105K;RPL17:NM_001035006:exon5:c.G315A:p.K105K;RPL17:NM_001199345:exon4:c.G201A:p.K67K;RPL17:NM_001199344:exon5:c.G315A:p.K105K;RPL17-C18orf32:NM_001199355:exon4:c.G315A:p.K105K;	exonic	ENSG00000215472;ENSG00000265681	synonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.G201A:p.K67K;ENSG00000265681:ENST00000578532:exon5:c.G315A:p.K105K;ENSG00000215472:ENST00000584895:exon4:c.G315A:p.K105K;ENSG00000265681:ENST00000418495:exon5:c.G315A:p.K105K;ENSG00000215472:ENST00000577910:exon4:c.G315A:p.K105K;ENSG00000265681:ENST00000580261:exon5:c.G315A:p.K105K;ENSG00000265681:ENST00000583637:exon6:c.G315A:p.K105K;ENSG00000265681:ENST00000581373:exon4:c.G201A:p.K67K;ENSG00000265681:ENST00000583036:exon6:c.G315A:p.K105K;ENSG00000265681:ENST00000580387:exon5:c.G315A:p.K105K;ENSG00000265681:ENST00000579248:exon5:c.G315A:p.K105K;ENSG00000265681:ENST00000579408:exon4:c.G315A:p.K105K;ENSG00000265681:ENST00000580210:exon4:c.G285A:p.K95K;	0.999989830131934	1.0
18	47016825	T	A	18	49490455	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.A200T:p.K67M;RPL17:NM_001199340:exon6:c.A314T:p.K105M;RPL17:NM_001199341:exon5:c.A314T:p.K105M;RPL17:NM_001199342:exon6:c.A314T:p.K105M;RPL17:NM_000985:exon5:c.A314T:p.K105M;RPL17:NM_001199343:exon6:c.A314T:p.K105M;RPL17:NM_001035006:exon5:c.A314T:p.K105M;RPL17:NM_001199345:exon4:c.A200T:p.K67M;RPL17:NM_001199344:exon5:c.A314T:p.K105M;RPL17-C18orf32:NM_001199355:exon4:c.A314T:p.K105M;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.A200T:p.K67M;ENSG00000265681:ENST00000578532:exon5:c.A314T:p.K105M;ENSG00000215472:ENST00000584895:exon4:c.A314T:p.K105M;ENSG00000265681:ENST00000418495:exon5:c.A314T:p.K105M;ENSG00000215472:ENST00000577910:exon4:c.A314T:p.K105M;ENSG00000265681:ENST00000580261:exon5:c.A314T:p.K105M;ENSG00000265681:ENST00000583637:exon6:c.A314T:p.K105M;ENSG00000265681:ENST00000581373:exon4:c.A200T:p.K67M;ENSG00000265681:ENST00000583036:exon6:c.A314T:p.K105M;ENSG00000265681:ENST00000580387:exon5:c.A314T:p.K105M;ENSG00000265681:ENST00000579248:exon5:c.A314T:p.K105M;ENSG00000265681:ENST00000579408:exon4:c.A314T:p.K105M;ENSG00000265681:ENST00000580210:exon4:c.A284T:p.K95M;	0.999917505649031	0.954
18	47016825	T	C	18	49490455	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.A200G:p.K67R;RPL17:NM_001199340:exon6:c.A314G:p.K105R;RPL17:NM_001199341:exon5:c.A314G:p.K105R;RPL17:NM_001199342:exon6:c.A314G:p.K105R;RPL17:NM_000985:exon5:c.A314G:p.K105R;RPL17:NM_001199343:exon6:c.A314G:p.K105R;RPL17:NM_001035006:exon5:c.A314G:p.K105R;RPL17:NM_001199345:exon4:c.A200G:p.K67R;RPL17:NM_001199344:exon5:c.A314G:p.K105R;RPL17-C18orf32:NM_001199355:exon4:c.A314G:p.K105R;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.A200G:p.K67R;ENSG00000265681:ENST00000578532:exon5:c.A314G:p.K105R;ENSG00000215472:ENST00000584895:exon4:c.A314G:p.K105R;ENSG00000265681:ENST00000418495:exon5:c.A314G:p.K105R;ENSG00000215472:ENST00000577910:exon4:c.A314G:p.K105R;ENSG00000265681:ENST00000580261:exon5:c.A314G:p.K105R;ENSG00000265681:ENST00000583637:exon6:c.A314G:p.K105R;ENSG00000265681:ENST00000581373:exon4:c.A200G:p.K67R;ENSG00000265681:ENST00000583036:exon6:c.A314G:p.K105R;ENSG00000265681:ENST00000580387:exon5:c.A314G:p.K105R;ENSG00000265681:ENST00000579248:exon5:c.A314G:p.K105R;ENSG00000265681:ENST00000579408:exon4:c.A314G:p.K105R;ENSG00000265681:ENST00000580210:exon4:c.A284G:p.K95R;	0.999951675809075	1.0
18	47016825	T	G	18	49490455	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.A200C:p.K67T;RPL17:NM_001199340:exon6:c.A314C:p.K105T;RPL17:NM_001199341:exon5:c.A314C:p.K105T;RPL17:NM_001199342:exon6:c.A314C:p.K105T;RPL17:NM_000985:exon5:c.A314C:p.K105T;RPL17:NM_001199343:exon6:c.A314C:p.K105T;RPL17:NM_001035006:exon5:c.A314C:p.K105T;RPL17:NM_001199345:exon4:c.A200C:p.K67T;RPL17:NM_001199344:exon5:c.A314C:p.K105T;RPL17-C18orf32:NM_001199355:exon4:c.A314C:p.K105T;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.A200C:p.K67T;ENSG00000265681:ENST00000578532:exon5:c.A314C:p.K105T;ENSG00000215472:ENST00000584895:exon4:c.A314C:p.K105T;ENSG00000265681:ENST00000418495:exon5:c.A314C:p.K105T;ENSG00000215472:ENST00000577910:exon4:c.A314C:p.K105T;ENSG00000265681:ENST00000580261:exon5:c.A314C:p.K105T;ENSG00000265681:ENST00000583637:exon6:c.A314C:p.K105T;ENSG00000265681:ENST00000581373:exon4:c.A200C:p.K67T;ENSG00000265681:ENST00000583036:exon6:c.A314C:p.K105T;ENSG00000265681:ENST00000580387:exon5:c.A314C:p.K105T;ENSG00000265681:ENST00000579248:exon5:c.A314C:p.K105T;ENSG00000265681:ENST00000579408:exon4:c.A314C:p.K105T;ENSG00000265681:ENST00000580210:exon4:c.A284C:p.K95T;	0.999939474833121	0.998
18	47016826	T	A	18	49490456	y	y	exonic	RPL17;RPL17-C18orf32	stopgain SNV	RPL17-C18orf32:NM_001199356:exon4:c.A199T:p.K67X;RPL17:NM_001199340:exon6:c.A313T:p.K105X;RPL17:NM_001199341:exon5:c.A313T:p.K105X;RPL17:NM_001199342:exon6:c.A313T:p.K105X;RPL17:NM_000985:exon5:c.A313T:p.K105X;RPL17:NM_001199343:exon6:c.A313T:p.K105X;RPL17:NM_001035006:exon5:c.A313T:p.K105X;RPL17:NM_001199345:exon4:c.A199T:p.K67X;RPL17:NM_001199344:exon5:c.A313T:p.K105X;RPL17-C18orf32:NM_001199355:exon4:c.A313T:p.K105X;	exonic	ENSG00000215472;ENSG00000265681	stopgain SNV	ENSG00000215472:ENST00000332968:exon3:c.A199T:p.K67X;ENSG00000265681:ENST00000578532:exon5:c.A313T:p.K105X;ENSG00000215472:ENST00000584895:exon4:c.A313T:p.K105X;ENSG00000265681:ENST00000418495:exon5:c.A313T:p.K105X;ENSG00000215472:ENST00000577910:exon4:c.A313T:p.K105X;ENSG00000265681:ENST00000580261:exon5:c.A313T:p.K105X;ENSG00000265681:ENST00000583637:exon6:c.A313T:p.K105X;ENSG00000265681:ENST00000581373:exon4:c.A199T:p.K67X;ENSG00000265681:ENST00000583036:exon6:c.A313T:p.K105X;ENSG00000265681:ENST00000580387:exon5:c.A313T:p.K105X;ENSG00000265681:ENST00000579248:exon5:c.A313T:p.K105X;ENSG00000265681:ENST00000579408:exon4:c.A313T:p.K105X;ENSG00000265681:ENST00000580210:exon4:c.A283T:p.K95X;	0.997264138350031	0.876
18	47016826	T	C	18	49490456	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.A199G:p.K67E;RPL17:NM_001199340:exon6:c.A313G:p.K105E;RPL17:NM_001199341:exon5:c.A313G:p.K105E;RPL17:NM_001199342:exon6:c.A313G:p.K105E;RPL17:NM_000985:exon5:c.A313G:p.K105E;RPL17:NM_001199343:exon6:c.A313G:p.K105E;RPL17:NM_001035006:exon5:c.A313G:p.K105E;RPL17:NM_001199345:exon4:c.A199G:p.K67E;RPL17:NM_001199344:exon5:c.A313G:p.K105E;RPL17-C18orf32:NM_001199355:exon4:c.A313G:p.K105E;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.A199G:p.K67E;ENSG00000265681:ENST00000578532:exon5:c.A313G:p.K105E;ENSG00000215472:ENST00000584895:exon4:c.A313G:p.K105E;ENSG00000265681:ENST00000418495:exon5:c.A313G:p.K105E;ENSG00000215472:ENST00000577910:exon4:c.A313G:p.K105E;ENSG00000265681:ENST00000580261:exon5:c.A313G:p.K105E;ENSG00000265681:ENST00000583637:exon6:c.A313G:p.K105E;ENSG00000265681:ENST00000581373:exon4:c.A199G:p.K67E;ENSG00000265681:ENST00000583036:exon6:c.A313G:p.K105E;ENSG00000265681:ENST00000580387:exon5:c.A313G:p.K105E;ENSG00000265681:ENST00000579248:exon5:c.A313G:p.K105E;ENSG00000265681:ENST00000579408:exon4:c.A313G:p.K105E;ENSG00000265681:ENST00000580210:exon4:c.A283G:p.K95E;	0.644229015530658	0.402
18	47016826	T	G	18	49490456	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.A199C:p.K67Q;RPL17:NM_001199340:exon6:c.A313C:p.K105Q;RPL17:NM_001199341:exon5:c.A313C:p.K105Q;RPL17:NM_001199342:exon6:c.A313C:p.K105Q;RPL17:NM_000985:exon5:c.A313C:p.K105Q;RPL17:NM_001199343:exon6:c.A313C:p.K105Q;RPL17:NM_001035006:exon5:c.A313C:p.K105Q;RPL17:NM_001199345:exon4:c.A199C:p.K67Q;RPL17:NM_001199344:exon5:c.A313C:p.K105Q;RPL17-C18orf32:NM_001199355:exon4:c.A313C:p.K105Q;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.A199C:p.K67Q;ENSG00000265681:ENST00000578532:exon5:c.A313C:p.K105Q;ENSG00000215472:ENST00000584895:exon4:c.A313C:p.K105Q;ENSG00000265681:ENST00000418495:exon5:c.A313C:p.K105Q;ENSG00000215472:ENST00000577910:exon4:c.A313C:p.K105Q;ENSG00000265681:ENST00000580261:exon5:c.A313C:p.K105Q;ENSG00000265681:ENST00000583637:exon6:c.A313C:p.K105Q;ENSG00000265681:ENST00000581373:exon4:c.A199C:p.K67Q;ENSG00000265681:ENST00000583036:exon6:c.A313C:p.K105Q;ENSG00000265681:ENST00000580387:exon5:c.A313C:p.K105Q;ENSG00000265681:ENST00000579248:exon5:c.A313C:p.K105Q;ENSG00000265681:ENST00000579408:exon4:c.A313C:p.K105Q;ENSG00000265681:ENST00000580210:exon4:c.A283C:p.K95Q;	0.528563859002344	0.694
18	47016921	G	A	18	49490551	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.C104T:p.A35V;RPL17:NM_001199340:exon6:c.C218T:p.A73V;RPL17:NM_001199341:exon5:c.C218T:p.A73V;RPL17:NM_001199342:exon6:c.C218T:p.A73V;RPL17:NM_000985:exon5:c.C218T:p.A73V;RPL17:NM_001199343:exon6:c.C218T:p.A73V;RPL17:NM_001035006:exon5:c.C218T:p.A73V;RPL17:NM_001199345:exon4:c.C104T:p.A35V;RPL17:NM_001199344:exon5:c.C218T:p.A73V;RPL17-C18orf32:NM_001199355:exon4:c.C218T:p.A73V;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.C104T:p.A35V;ENSG00000265681:ENST00000578532:exon5:c.C218T:p.A73V;ENSG00000215472:ENST00000584895:exon4:c.C218T:p.A73V;ENSG00000265681:ENST00000418495:exon5:c.C218T:p.A73V;ENSG00000215472:ENST00000577910:exon4:c.C218T:p.A73V;ENSG00000265681:ENST00000580261:exon5:c.C218T:p.A73V;ENSG00000265681:ENST00000583637:exon6:c.C218T:p.A73V;ENSG00000265681:ENST00000581373:exon4:c.C104T:p.A35V;ENSG00000265681:ENST00000583036:exon6:c.C218T:p.A73V;ENSG00000265681:ENST00000580387:exon5:c.C218T:p.A73V;ENSG00000265681:ENST00000579248:exon5:c.C218T:p.A73V;ENSG00000265681:ENST00000579408:exon4:c.C218T:p.A73V;ENSG00000265681:ENST00000580210:exon4:c.C188T:p.A63V;	0.778074785386153	0.798
18	47016921	G	C	18	49490551	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.C104G:p.A35G;RPL17:NM_001199340:exon6:c.C218G:p.A73G;RPL17:NM_001199341:exon5:c.C218G:p.A73G;RPL17:NM_001199342:exon6:c.C218G:p.A73G;RPL17:NM_000985:exon5:c.C218G:p.A73G;RPL17:NM_001199343:exon6:c.C218G:p.A73G;RPL17:NM_001035006:exon5:c.C218G:p.A73G;RPL17:NM_001199345:exon4:c.C104G:p.A35G;RPL17:NM_001199344:exon5:c.C218G:p.A73G;RPL17-C18orf32:NM_001199355:exon4:c.C218G:p.A73G;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.C104G:p.A35G;ENSG00000265681:ENST00000578532:exon5:c.C218G:p.A73G;ENSG00000215472:ENST00000584895:exon4:c.C218G:p.A73G;ENSG00000265681:ENST00000418495:exon5:c.C218G:p.A73G;ENSG00000215472:ENST00000577910:exon4:c.C218G:p.A73G;ENSG00000265681:ENST00000580261:exon5:c.C218G:p.A73G;ENSG00000265681:ENST00000583637:exon6:c.C218G:p.A73G;ENSG00000265681:ENST00000581373:exon4:c.C104G:p.A35G;ENSG00000265681:ENST00000583036:exon6:c.C218G:p.A73G;ENSG00000265681:ENST00000580387:exon5:c.C218G:p.A73G;ENSG00000265681:ENST00000579248:exon5:c.C218G:p.A73G;ENSG00000265681:ENST00000579408:exon4:c.C218G:p.A73G;ENSG00000265681:ENST00000580210:exon4:c.C188G:p.A63G;	0.609831041368581	0.562
18	47016921	G	T	18	49490551	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.C104A:p.A35D;RPL17:NM_001199340:exon6:c.C218A:p.A73D;RPL17:NM_001199341:exon5:c.C218A:p.A73D;RPL17:NM_001199342:exon6:c.C218A:p.A73D;RPL17:NM_000985:exon5:c.C218A:p.A73D;RPL17:NM_001199343:exon6:c.C218A:p.A73D;RPL17:NM_001035006:exon5:c.C218A:p.A73D;RPL17:NM_001199345:exon4:c.C104A:p.A35D;RPL17:NM_001199344:exon5:c.C218A:p.A73D;RPL17-C18orf32:NM_001199355:exon4:c.C218A:p.A73D;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.C104A:p.A35D;ENSG00000265681:ENST00000578532:exon5:c.C218A:p.A73D;ENSG00000215472:ENST00000584895:exon4:c.C218A:p.A73D;ENSG00000265681:ENST00000418495:exon5:c.C218A:p.A73D;ENSG00000215472:ENST00000577910:exon4:c.C218A:p.A73D;ENSG00000265681:ENST00000580261:exon5:c.C218A:p.A73D;ENSG00000265681:ENST00000583637:exon6:c.C218A:p.A73D;ENSG00000265681:ENST00000581373:exon4:c.C104A:p.A35D;ENSG00000265681:ENST00000583036:exon6:c.C218A:p.A73D;ENSG00000265681:ENST00000580387:exon5:c.C218A:p.A73D;ENSG00000265681:ENST00000579248:exon5:c.C218A:p.A73D;ENSG00000265681:ENST00000579408:exon4:c.C218A:p.A73D;ENSG00000265681:ENST00000580210:exon4:c.C188A:p.A63D;	0.814374450607542	0.648
18	47016922	C	A	18	49490552	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.G103T:p.A35S;RPL17:NM_001199340:exon6:c.G217T:p.A73S;RPL17:NM_001199341:exon5:c.G217T:p.A73S;RPL17:NM_001199342:exon6:c.G217T:p.A73S;RPL17:NM_000985:exon5:c.G217T:p.A73S;RPL17:NM_001199343:exon6:c.G217T:p.A73S;RPL17:NM_001035006:exon5:c.G217T:p.A73S;RPL17:NM_001199345:exon4:c.G103T:p.A35S;RPL17:NM_001199344:exon5:c.G217T:p.A73S;RPL17-C18orf32:NM_001199355:exon4:c.G217T:p.A73S;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.G103T:p.A35S;ENSG00000265681:ENST00000578532:exon5:c.G217T:p.A73S;ENSG00000215472:ENST00000584895:exon4:c.G217T:p.A73S;ENSG00000265681:ENST00000418495:exon5:c.G217T:p.A73S;ENSG00000215472:ENST00000577910:exon4:c.G217T:p.A73S;ENSG00000265681:ENST00000580261:exon5:c.G217T:p.A73S;ENSG00000265681:ENST00000583637:exon6:c.G217T:p.A73S;ENSG00000265681:ENST00000581373:exon4:c.G103T:p.A35S;ENSG00000265681:ENST00000583036:exon6:c.G217T:p.A73S;ENSG00000265681:ENST00000580387:exon5:c.G217T:p.A73S;ENSG00000265681:ENST00000579248:exon5:c.G217T:p.A73S;ENSG00000265681:ENST00000579408:exon4:c.G217T:p.A73S;ENSG00000265681:ENST00000580210:exon4:c.G187T:p.A63S;	0.997187963224651	0.932
18	47016922	C	G	18	49490552	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.G103C:p.A35P;RPL17:NM_001199340:exon6:c.G217C:p.A73P;RPL17:NM_001199341:exon5:c.G217C:p.A73P;RPL17:NM_001199342:exon6:c.G217C:p.A73P;RPL17:NM_000985:exon5:c.G217C:p.A73P;RPL17:NM_001199343:exon6:c.G217C:p.A73P;RPL17:NM_001035006:exon5:c.G217C:p.A73P;RPL17:NM_001199345:exon4:c.G103C:p.A35P;RPL17:NM_001199344:exon5:c.G217C:p.A73P;RPL17-C18orf32:NM_001199355:exon4:c.G217C:p.A73P;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.G103C:p.A35P;ENSG00000265681:ENST00000578532:exon5:c.G217C:p.A73P;ENSG00000215472:ENST00000584895:exon4:c.G217C:p.A73P;ENSG00000265681:ENST00000418495:exon5:c.G217C:p.A73P;ENSG00000215472:ENST00000577910:exon4:c.G217C:p.A73P;ENSG00000265681:ENST00000580261:exon5:c.G217C:p.A73P;ENSG00000265681:ENST00000583637:exon6:c.G217C:p.A73P;ENSG00000265681:ENST00000581373:exon4:c.G103C:p.A35P;ENSG00000265681:ENST00000583036:exon6:c.G217C:p.A73P;ENSG00000265681:ENST00000580387:exon5:c.G217C:p.A73P;ENSG00000265681:ENST00000579248:exon5:c.G217C:p.A73P;ENSG00000265681:ENST00000579408:exon4:c.G217C:p.A73P;ENSG00000265681:ENST00000580210:exon4:c.G187C:p.A63P;	0.997111091241242	0.882
18	47016922	C	T	18	49490552	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon4:c.G103A:p.A35T;RPL17:NM_001199340:exon6:c.G217A:p.A73T;RPL17:NM_001199341:exon5:c.G217A:p.A73T;RPL17:NM_001199342:exon6:c.G217A:p.A73T;RPL17:NM_000985:exon5:c.G217A:p.A73T;RPL17:NM_001199343:exon6:c.G217A:p.A73T;RPL17:NM_001035006:exon5:c.G217A:p.A73T;RPL17:NM_001199345:exon4:c.G103A:p.A35T;RPL17:NM_001199344:exon5:c.G217A:p.A73T;RPL17-C18orf32:NM_001199355:exon4:c.G217A:p.A73T;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon3:c.G103A:p.A35T;ENSG00000265681:ENST00000578532:exon5:c.G217A:p.A73T;ENSG00000215472:ENST00000584895:exon4:c.G217A:p.A73T;ENSG00000265681:ENST00000418495:exon5:c.G217A:p.A73T;ENSG00000215472:ENST00000577910:exon4:c.G217A:p.A73T;ENSG00000265681:ENST00000580261:exon5:c.G217A:p.A73T;ENSG00000265681:ENST00000583637:exon6:c.G217A:p.A73T;ENSG00000265681:ENST00000581373:exon4:c.G103A:p.A35T;ENSG00000265681:ENST00000583036:exon6:c.G217A:p.A73T;ENSG00000265681:ENST00000580387:exon5:c.G217A:p.A73T;ENSG00000265681:ENST00000579248:exon5:c.G217A:p.A73T;ENSG00000265681:ENST00000579408:exon4:c.G217A:p.A73T;ENSG00000265681:ENST00000580210:exon4:c.G187A:p.A63T;	0.943543848753776	0.674
18	47016923	C	A	18	49490553	y	y	splicing	RPL17(NM_000985:exon6:c.217-1G>T;NM_001199345:exon5:c.103-1G>T;NM_001199344:exon6:c.217-1G>T;NM_001199343:exon7:c.217-1G>T;NM_001035006:exon6:c.217-1G>T;NM_001199341:exon6:c.217-1G>T;NM_001199340:exon7:c.217-1G>T;NM_001199342:exon7:c.217-1G>T);RPL17-C18orf32(NM_001199355:exon5:c.217-1G>T;NM_001199356:exon5:c.103-1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.217-1G>T;ENST00000332968:exon4:c.103-1G>T;ENST00000577910:exon5:c.217-1G>T);ENSG00000265681(ENST00000580261:exon6:c.217-1G>T;ENST00000581373:exon5:c.103-1G>T;ENST00000579248:exon6:c.217-1G>T;ENST00000579408:exon5:c.217-1G>T;ENST00000418495:exon6:c.217-1G>T;ENST00000580210:exon5:c.187-1G>T;ENST00000583637:exon7:c.217-1G>T;ENST00000578532:exon6:c.217-1G>T;ENST00000583036:exon7:c.217-1G>T;ENST00000580387:exon6:c.217-1G>T)	.	.	0.999981760802075	0.938
18	47016923	C	G	18	49490553	y	y	splicing	RPL17(NM_000985:exon6:c.217-1G>C;NM_001199345:exon5:c.103-1G>C;NM_001199344:exon6:c.217-1G>C;NM_001199343:exon7:c.217-1G>C;NM_001035006:exon6:c.217-1G>C;NM_001199341:exon6:c.217-1G>C;NM_001199340:exon7:c.217-1G>C;NM_001199342:exon7:c.217-1G>C);RPL17-C18orf32(NM_001199355:exon5:c.217-1G>C;NM_001199356:exon5:c.103-1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.217-1G>C;ENST00000332968:exon4:c.103-1G>C;ENST00000577910:exon5:c.217-1G>C);ENSG00000265681(ENST00000580261:exon6:c.217-1G>C;ENST00000581373:exon5:c.103-1G>C;ENST00000579248:exon6:c.217-1G>C;ENST00000579408:exon5:c.217-1G>C;ENST00000418495:exon6:c.217-1G>C;ENST00000580210:exon5:c.187-1G>C;ENST00000583637:exon7:c.217-1G>C;ENST00000578532:exon6:c.217-1G>C;ENST00000583036:exon7:c.217-1G>C;ENST00000580387:exon6:c.217-1G>C)	.	.	0.999981760802075	0.936
18	47016923	C	T	18	49490553	y	y	splicing	RPL17(NM_000985:exon6:c.217-1G>A;NM_001199345:exon5:c.103-1G>A;NM_001199344:exon6:c.217-1G>A;NM_001199343:exon7:c.217-1G>A;NM_001035006:exon6:c.217-1G>A;NM_001199341:exon6:c.217-1G>A;NM_001199340:exon7:c.217-1G>A;NM_001199342:exon7:c.217-1G>A);RPL17-C18orf32(NM_001199355:exon5:c.217-1G>A;NM_001199356:exon5:c.103-1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.217-1G>A;ENST00000332968:exon4:c.103-1G>A;ENST00000577910:exon5:c.217-1G>A);ENSG00000265681(ENST00000580261:exon6:c.217-1G>A;ENST00000581373:exon5:c.103-1G>A;ENST00000579248:exon6:c.217-1G>A;ENST00000579408:exon5:c.217-1G>A;ENST00000418495:exon6:c.217-1G>A;ENST00000580210:exon5:c.187-1G>A;ENST00000583637:exon7:c.217-1G>A;ENST00000578532:exon6:c.217-1G>A;ENST00000583036:exon7:c.217-1G>A;ENST00000580387:exon6:c.217-1G>A)	.	.	0.999981760802075	0.938
18	47016924	T	A	18	49490554	y	y	splicing	RPL17(NM_000985:exon6:c.217-2A>T;NM_001199345:exon5:c.103-2A>T;NM_001199344:exon6:c.217-2A>T;NM_001199343:exon7:c.217-2A>T;NM_001035006:exon6:c.217-2A>T;NM_001199341:exon6:c.217-2A>T;NM_001199340:exon7:c.217-2A>T;NM_001199342:exon7:c.217-2A>T);RPL17-C18orf32(NM_001199355:exon5:c.217-2A>T;NM_001199356:exon5:c.103-2A>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.217-2A>T;ENST00000332968:exon4:c.103-2A>T;ENST00000577910:exon5:c.217-2A>T);ENSG00000265681(ENST00000580261:exon6:c.217-2A>T;ENST00000581373:exon5:c.103-2A>T;ENST00000579248:exon6:c.217-2A>T;ENST00000579408:exon5:c.217-2A>T;ENST00000418495:exon6:c.217-2A>T;ENST00000580210:exon5:c.187-2A>T;ENST00000583637:exon7:c.217-2A>T;ENST00000578532:exon6:c.217-2A>T;ENST00000583036:exon7:c.217-2A>T;ENST00000580387:exon6:c.217-2A>T)	.	.	0.999992752818502	0.926
18	47016924	T	C	18	49490554	y	y	splicing	RPL17(NM_000985:exon6:c.217-2A>G;NM_001199345:exon5:c.103-2A>G;NM_001199344:exon6:c.217-2A>G;NM_001199343:exon7:c.217-2A>G;NM_001035006:exon6:c.217-2A>G;NM_001199341:exon6:c.217-2A>G;NM_001199340:exon7:c.217-2A>G;NM_001199342:exon7:c.217-2A>G);RPL17-C18orf32(NM_001199355:exon5:c.217-2A>G;NM_001199356:exon5:c.103-2A>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.217-2A>G;ENST00000332968:exon4:c.103-2A>G;ENST00000577910:exon5:c.217-2A>G);ENSG00000265681(ENST00000580261:exon6:c.217-2A>G;ENST00000581373:exon5:c.103-2A>G;ENST00000579248:exon6:c.217-2A>G;ENST00000579408:exon5:c.217-2A>G;ENST00000418495:exon6:c.217-2A>G;ENST00000580210:exon5:c.187-2A>G;ENST00000583637:exon7:c.217-2A>G;ENST00000578532:exon6:c.217-2A>G;ENST00000583036:exon7:c.217-2A>G;ENST00000580387:exon6:c.217-2A>G)	.	.	0.999992752818502	0.926
18	47016924	T	G	18	49490554	y	y	splicing	RPL17(NM_000985:exon6:c.217-2A>C;NM_001199345:exon5:c.103-2A>C;NM_001199344:exon6:c.217-2A>C;NM_001199343:exon7:c.217-2A>C;NM_001035006:exon6:c.217-2A>C;NM_001199341:exon6:c.217-2A>C;NM_001199340:exon7:c.217-2A>C;NM_001199342:exon7:c.217-2A>C);RPL17-C18orf32(NM_001199355:exon5:c.217-2A>C;NM_001199356:exon5:c.103-2A>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon5:c.217-2A>C;ENST00000332968:exon4:c.103-2A>C;ENST00000577910:exon5:c.217-2A>C);ENSG00000265681(ENST00000580261:exon6:c.217-2A>C;ENST00000581373:exon5:c.103-2A>C;ENST00000579248:exon6:c.217-2A>C;ENST00000579408:exon5:c.217-2A>C;ENST00000418495:exon6:c.217-2A>C;ENST00000580210:exon5:c.187-2A>C;ENST00000583637:exon7:c.217-2A>C;ENST00000578532:exon6:c.217-2A>C;ENST00000583036:exon7:c.217-2A>C;ENST00000580387:exon6:c.217-2A>C)	.	.	0.999992752818502	0.926
18	47016925	G	A	18	49490555	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.93616952001577E-4	0.028
18	47016925	G	C	18	49490555	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.999793713935068	0.876
18	47016925	G	T	18	49490555	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.741253625426034	0.472
18	47016926	A	C	18	49490556	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.67917495862859E-5	0.0
18	47016926	A	G	18	49490556	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.1278755622706E-5	0.0
18	47016926	A	T	18	49490556	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.73200994646198E-5	0.0
18	47016927	A	C	18	49490557	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.036119757657857	0.314
18	47016927	A	G	18	49490557	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.94790519716322E-4	0.014
18	47016927	A	T	18	49490557	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0160763204916742	0.25
18	47016928	A	C	18	49490558	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00432371159881116	0.098
18	47016928	A	G	18	49490558	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.47194242558315E-4	0.008
18	47016928	A	T	18	49490558	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00349505029540847	0.062
18	47016929	G	A	18	49490559	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	7.72865349087726E-5	0.0
18	47016929	G	C	18	49490559	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.12871027392176E-4	0.044
18	47016929	G	T	18	49490559	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.67654093922017E-4	0.058
18	47016930	A	C	18	49490560	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.26762542262996E-4	0.034
18	47016930	A	G	18	49490560	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.88337870318912E-5	0.006
18	47016930	A	T	18	49490560	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.70941926135139E-4	0.02
18	47016931	A	C	18	49490561	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.93369100189131E-4	0.064
18	47016931	A	G	18	49490561	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.52516617269206E-5	0.008
18	47016931	A	T	18	49490561	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.96450393605256E-4	0.066
18	47016932	A	C	18	49490562	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00107578522749244	0.168
18	47016932	A	G	18	49490562	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.14516659447293E-4	0.036
18	47016932	A	T	18	49490562	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00692364131646347	0.132
18	47016933	A	C	18	49490563	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.999793222735115	0.914
18	47016933	A	G	18	49490563	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.62274527694714E-4	0.07
18	47016933	A	T	18	49490563	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.3893645537148E-4	0.18
18	47016934	T	A	18	49490564	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.25537181160685E-5	0.0
18	47016934	T	C	18	49490564	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.8403239485223E-5	0.016
18	47016934	T	G	18	49490564	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.38117111255911E-5	0.0
18	47017155	A	C	18	49490785	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.25919551743448E-4	0.014
18	47017155	A	G	18	49490785	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.89046934839568E-4	0.014
18	47017155	A	T	18	49490785	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.65300837942301E-4	0.014
18	47017156	T	A	18	49490786	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00113769136860251	0.092
18	47017156	T	C	18	49490786	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.50042527978325E-4	0.032
18	47017156	T	G	18	49490786	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.38765769877334E-4	0.0
18	47017157	T	A	18	49490787	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.47978389555516E-5	0.0
18	47017157	T	C	18	49490787	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.59154321520259E-5	0.0
18	47017157	T	G	18	49490787	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.21324453558373E-4	0.008
18	47017158	C	A	18	49490788	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.996132535906742	0.89
18	47017158	C	G	18	49490788	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.998647223238153	0.854
18	47017158	C	T	18	49490788	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.998816419068227	0.928
18	47017159	T	A	18	49490789	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.995997775400004	0.686
18	47017159	T	C	18	49490789	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.935126762843291	0.664
18	47017159	T	G	18	49490789	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.891764043550091	0.672
18	47017160	C	A	18	49490790	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.128413128194386	0.34
18	47017160	C	G	18	49490790	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.11496968840725	0.3
18	47017160	C	T	18	49490790	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.92916363273825E-5	0.002
18	47017161	A	C	18	49490791	y	y	splicing	RPL17(NM_000985:exon5:c.216+2T>G;NM_001199345:exon4:c.102+2T>G;NM_001199344:exon5:c.216+2T>G;NM_001199343:exon6:c.216+2T>G;NM_001035006:exon5:c.216+2T>G;NM_001199341:exon5:c.216+2T>G;NM_001199340:exon6:c.216+2T>G;NM_001199342:exon6:c.216+2T>G);RPL17-C18orf32(NM_001199355:exon4:c.216+2T>G;NM_001199356:exon4:c.102+2T>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.216+2T>G;ENST00000332968:exon3:c.102+2T>G;ENST00000577910:exon4:c.216+2T>G);ENSG00000265681(ENST00000580261:exon5:c.216+2T>G;ENST00000581373:exon4:c.102+2T>G;ENST00000579248:exon5:c.216+2T>G;ENST00000579408:exon4:c.216+2T>G;ENST00000418495:exon5:c.216+2T>G;ENST00000580210:exon4:c.186+2T>G;ENST00000583637:exon6:c.216+2T>G;ENST00000578532:exon5:c.216+2T>G;ENST00000583036:exon6:c.216+2T>G;ENST00000580387:exon5:c.216+2T>G)	.	.	0.999989917668626	0.928
18	47017161	A	G	18	49490791	y	y	splicing	RPL17(NM_000985:exon5:c.216+2T>C;NM_001199345:exon4:c.102+2T>C;NM_001199344:exon5:c.216+2T>C;NM_001199343:exon6:c.216+2T>C;NM_001035006:exon5:c.216+2T>C;NM_001199341:exon5:c.216+2T>C;NM_001199340:exon6:c.216+2T>C;NM_001199342:exon6:c.216+2T>C);RPL17-C18orf32(NM_001199355:exon4:c.216+2T>C;NM_001199356:exon4:c.102+2T>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.216+2T>C;ENST00000332968:exon3:c.102+2T>C;ENST00000577910:exon4:c.216+2T>C);ENSG00000265681(ENST00000580261:exon5:c.216+2T>C;ENST00000581373:exon4:c.102+2T>C;ENST00000579248:exon5:c.216+2T>C;ENST00000579408:exon4:c.216+2T>C;ENST00000418495:exon5:c.216+2T>C;ENST00000580210:exon4:c.186+2T>C;ENST00000583637:exon6:c.216+2T>C;ENST00000578532:exon5:c.216+2T>C;ENST00000583036:exon6:c.216+2T>C;ENST00000580387:exon5:c.216+2T>C)	.	.	0.999939711763648	0.856
18	47017161	A	T	18	49490791	y	y	splicing	RPL17(NM_000985:exon5:c.216+2T>A;NM_001199345:exon4:c.102+2T>A;NM_001199344:exon5:c.216+2T>A;NM_001199343:exon6:c.216+2T>A;NM_001035006:exon5:c.216+2T>A;NM_001199341:exon5:c.216+2T>A;NM_001199340:exon6:c.216+2T>A;NM_001199342:exon6:c.216+2T>A);RPL17-C18orf32(NM_001199355:exon4:c.216+2T>A;NM_001199356:exon4:c.102+2T>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.216+2T>A;ENST00000332968:exon3:c.102+2T>A;ENST00000577910:exon4:c.216+2T>A);ENSG00000265681(ENST00000580261:exon5:c.216+2T>A;ENST00000581373:exon4:c.102+2T>A;ENST00000579248:exon5:c.216+2T>A;ENST00000579408:exon4:c.216+2T>A;ENST00000418495:exon5:c.216+2T>A;ENST00000580210:exon4:c.186+2T>A;ENST00000583637:exon6:c.216+2T>A;ENST00000578532:exon5:c.216+2T>A;ENST00000583036:exon6:c.216+2T>A;ENST00000580387:exon5:c.216+2T>A)	.	.	0.999989917668626	0.928
18	47017162	C	A	18	49490792	y	y	splicing	RPL17(NM_000985:exon5:c.216+1G>T;NM_001199345:exon4:c.102+1G>T;NM_001199344:exon5:c.216+1G>T;NM_001199343:exon6:c.216+1G>T;NM_001035006:exon5:c.216+1G>T;NM_001199341:exon5:c.216+1G>T;NM_001199340:exon6:c.216+1G>T;NM_001199342:exon6:c.216+1G>T);RPL17-C18orf32(NM_001199355:exon4:c.216+1G>T;NM_001199356:exon4:c.102+1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.216+1G>T;ENST00000332968:exon3:c.102+1G>T;ENST00000577910:exon4:c.216+1G>T);ENSG00000265681(ENST00000580261:exon5:c.216+1G>T;ENST00000581373:exon4:c.102+1G>T;ENST00000579248:exon5:c.216+1G>T;ENST00000579408:exon4:c.216+1G>T;ENST00000418495:exon5:c.216+1G>T;ENST00000580210:exon4:c.186+1G>T;ENST00000583637:exon6:c.216+1G>T;ENST00000578532:exon5:c.216+1G>T;ENST00000583036:exon6:c.216+1G>T;ENST00000580387:exon5:c.216+1G>T)	.	.	0.999981760802075	0.94
18	47017162	C	G	18	49490792	y	y	splicing	RPL17(NM_000985:exon5:c.216+1G>C;NM_001199345:exon4:c.102+1G>C;NM_001199344:exon5:c.216+1G>C;NM_001199343:exon6:c.216+1G>C;NM_001035006:exon5:c.216+1G>C;NM_001199341:exon5:c.216+1G>C;NM_001199340:exon6:c.216+1G>C;NM_001199342:exon6:c.216+1G>C);RPL17-C18orf32(NM_001199355:exon4:c.216+1G>C;NM_001199356:exon4:c.102+1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.216+1G>C;ENST00000332968:exon3:c.102+1G>C;ENST00000577910:exon4:c.216+1G>C);ENSG00000265681(ENST00000580261:exon5:c.216+1G>C;ENST00000581373:exon4:c.102+1G>C;ENST00000579248:exon5:c.216+1G>C;ENST00000579408:exon4:c.216+1G>C;ENST00000418495:exon5:c.216+1G>C;ENST00000580210:exon4:c.186+1G>C;ENST00000583637:exon6:c.216+1G>C;ENST00000578532:exon5:c.216+1G>C;ENST00000583036:exon6:c.216+1G>C;ENST00000580387:exon5:c.216+1G>C)	.	.	0.999981760802075	0.94
18	47017162	C	T	18	49490792	y	y	splicing	RPL17(NM_000985:exon5:c.216+1G>A;NM_001199345:exon4:c.102+1G>A;NM_001199344:exon5:c.216+1G>A;NM_001199343:exon6:c.216+1G>A;NM_001035006:exon5:c.216+1G>A;NM_001199341:exon5:c.216+1G>A;NM_001199340:exon6:c.216+1G>A;NM_001199342:exon6:c.216+1G>A);RPL17-C18orf32(NM_001199355:exon4:c.216+1G>A;NM_001199356:exon4:c.102+1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.216+1G>A;ENST00000332968:exon3:c.102+1G>A;ENST00000577910:exon4:c.216+1G>A);ENSG00000265681(ENST00000580261:exon5:c.216+1G>A;ENST00000581373:exon4:c.102+1G>A;ENST00000579248:exon5:c.216+1G>A;ENST00000579408:exon4:c.216+1G>A;ENST00000418495:exon5:c.216+1G>A;ENST00000580210:exon4:c.186+1G>A;ENST00000583637:exon6:c.216+1G>A;ENST00000578532:exon5:c.216+1G>A;ENST00000583036:exon6:c.216+1G>A;ENST00000580387:exon5:c.216+1G>A)	.	.	0.999981760802075	0.94
18	47017163	C	A	18	49490793	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon3:c.G102T:p.Q34H;RPL17:NM_001199340:exon5:c.G216T:p.Q72H;RPL17:NM_001199341:exon4:c.G216T:p.Q72H;RPL17:NM_001199342:exon5:c.G216T:p.Q72H;RPL17:NM_000985:exon4:c.G216T:p.Q72H;RPL17:NM_001199343:exon5:c.G216T:p.Q72H;RPL17:NM_001035006:exon4:c.G216T:p.Q72H;RPL17:NM_001199345:exon3:c.G102T:p.Q34H;RPL17:NM_001199344:exon4:c.G216T:p.Q72H;RPL17-C18orf32:NM_001199355:exon3:c.G216T:p.Q72H;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon2:c.G102T:p.Q34H;ENSG00000265681:ENST00000578532:exon4:c.G216T:p.Q72H;ENSG00000215472:ENST00000584895:exon3:c.G216T:p.Q72H;ENSG00000265681:ENST00000418495:exon4:c.G216T:p.Q72H;ENSG00000215472:ENST00000577910:exon3:c.G216T:p.Q72H;ENSG00000265681:ENST00000580261:exon4:c.G216T:p.Q72H;ENSG00000265681:ENST00000583637:exon5:c.G216T:p.Q72H;ENSG00000265681:ENST00000581373:exon3:c.G102T:p.Q34H;ENSG00000265681:ENST00000583036:exon5:c.G216T:p.Q72H;ENSG00000265681:ENST00000580387:exon4:c.G216T:p.Q72H;ENSG00000265681:ENST00000579248:exon4:c.G216T:p.Q72H;ENSG00000265681:ENST00000579408:exon3:c.G216T:p.Q72H;ENSG00000265681:ENST00000580210:exon3:c.G186T:p.Q62H;	0.999865374155525	0.974
18	47017163	C	G	18	49490793	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon3:c.G102C:p.Q34H;RPL17:NM_001199340:exon5:c.G216C:p.Q72H;RPL17:NM_001199341:exon4:c.G216C:p.Q72H;RPL17:NM_001199342:exon5:c.G216C:p.Q72H;RPL17:NM_000985:exon4:c.G216C:p.Q72H;RPL17:NM_001199343:exon5:c.G216C:p.Q72H;RPL17:NM_001035006:exon4:c.G216C:p.Q72H;RPL17:NM_001199345:exon3:c.G102C:p.Q34H;RPL17:NM_001199344:exon4:c.G216C:p.Q72H;RPL17-C18orf32:NM_001199355:exon3:c.G216C:p.Q72H;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon2:c.G102C:p.Q34H;ENSG00000265681:ENST00000578532:exon4:c.G216C:p.Q72H;ENSG00000215472:ENST00000584895:exon3:c.G216C:p.Q72H;ENSG00000265681:ENST00000418495:exon4:c.G216C:p.Q72H;ENSG00000215472:ENST00000577910:exon3:c.G216C:p.Q72H;ENSG00000265681:ENST00000580261:exon4:c.G216C:p.Q72H;ENSG00000265681:ENST00000583637:exon5:c.G216C:p.Q72H;ENSG00000265681:ENST00000581373:exon3:c.G102C:p.Q34H;ENSG00000265681:ENST00000583036:exon5:c.G216C:p.Q72H;ENSG00000265681:ENST00000580387:exon4:c.G216C:p.Q72H;ENSG00000265681:ENST00000579248:exon4:c.G216C:p.Q72H;ENSG00000265681:ENST00000579408:exon3:c.G216C:p.Q72H;ENSG00000265681:ENST00000580210:exon3:c.G186C:p.Q62H;	0.999991613927021	1.0
18	47017163	C	T	18	49490793	y	y	exonic	RPL17;RPL17-C18orf32	synonymous SNV	RPL17-C18orf32:NM_001199356:exon3:c.G102A:p.Q34Q;RPL17:NM_001199340:exon5:c.G216A:p.Q72Q;RPL17:NM_001199341:exon4:c.G216A:p.Q72Q;RPL17:NM_001199342:exon5:c.G216A:p.Q72Q;RPL17:NM_000985:exon4:c.G216A:p.Q72Q;RPL17:NM_001199343:exon5:c.G216A:p.Q72Q;RPL17:NM_001035006:exon4:c.G216A:p.Q72Q;RPL17:NM_001199345:exon3:c.G102A:p.Q34Q;RPL17:NM_001199344:exon4:c.G216A:p.Q72Q;RPL17-C18orf32:NM_001199355:exon3:c.G216A:p.Q72Q;	exonic	ENSG00000215472;ENSG00000265681	synonymous SNV	ENSG00000215472:ENST00000332968:exon2:c.G102A:p.Q34Q;ENSG00000265681:ENST00000578532:exon4:c.G216A:p.Q72Q;ENSG00000215472:ENST00000584895:exon3:c.G216A:p.Q72Q;ENSG00000265681:ENST00000418495:exon4:c.G216A:p.Q72Q;ENSG00000215472:ENST00000577910:exon3:c.G216A:p.Q72Q;ENSG00000265681:ENST00000580261:exon4:c.G216A:p.Q72Q;ENSG00000265681:ENST00000583637:exon5:c.G216A:p.Q72Q;ENSG00000265681:ENST00000581373:exon3:c.G102A:p.Q34Q;ENSG00000265681:ENST00000583036:exon5:c.G216A:p.Q72Q;ENSG00000265681:ENST00000580387:exon4:c.G216A:p.Q72Q;ENSG00000265681:ENST00000579248:exon4:c.G216A:p.Q72Q;ENSG00000265681:ENST00000579408:exon3:c.G216A:p.Q72Q;ENSG00000265681:ENST00000580210:exon3:c.G186A:p.Q62Q;	0.999640632551378	0.976
18	47017164	T	A	18	49490794	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon3:c.A101T:p.Q34L;RPL17:NM_001199340:exon5:c.A215T:p.Q72L;RPL17:NM_001199341:exon4:c.A215T:p.Q72L;RPL17:NM_001199342:exon5:c.A215T:p.Q72L;RPL17:NM_000985:exon4:c.A215T:p.Q72L;RPL17:NM_001199343:exon5:c.A215T:p.Q72L;RPL17:NM_001035006:exon4:c.A215T:p.Q72L;RPL17:NM_001199345:exon3:c.A101T:p.Q34L;RPL17:NM_001199344:exon4:c.A215T:p.Q72L;RPL17-C18orf32:NM_001199355:exon3:c.A215T:p.Q72L;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon2:c.A101T:p.Q34L;ENSG00000265681:ENST00000578532:exon4:c.A215T:p.Q72L;ENSG00000215472:ENST00000584895:exon3:c.A215T:p.Q72L;ENSG00000265681:ENST00000418495:exon4:c.A215T:p.Q72L;ENSG00000215472:ENST00000577910:exon3:c.A215T:p.Q72L;ENSG00000265681:ENST00000580261:exon4:c.A215T:p.Q72L;ENSG00000265681:ENST00000583637:exon5:c.A215T:p.Q72L;ENSG00000265681:ENST00000581373:exon3:c.A101T:p.Q34L;ENSG00000265681:ENST00000583036:exon5:c.A215T:p.Q72L;ENSG00000265681:ENST00000580387:exon4:c.A215T:p.Q72L;ENSG00000265681:ENST00000579248:exon4:c.A215T:p.Q72L;ENSG00000265681:ENST00000579408:exon3:c.A215T:p.Q72L;ENSG00000265681:ENST00000580210:exon3:c.A185T:p.Q62L;	0.999535817943838	0.982
18	47017164	T	C	18	49490794	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon3:c.A101G:p.Q34R;RPL17:NM_001199340:exon5:c.A215G:p.Q72R;RPL17:NM_001199341:exon4:c.A215G:p.Q72R;RPL17:NM_001199342:exon5:c.A215G:p.Q72R;RPL17:NM_000985:exon4:c.A215G:p.Q72R;RPL17:NM_001199343:exon5:c.A215G:p.Q72R;RPL17:NM_001035006:exon4:c.A215G:p.Q72R;RPL17:NM_001199345:exon3:c.A101G:p.Q34R;RPL17:NM_001199344:exon4:c.A215G:p.Q72R;RPL17-C18orf32:NM_001199355:exon3:c.A215G:p.Q72R;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon2:c.A101G:p.Q34R;ENSG00000265681:ENST00000578532:exon4:c.A215G:p.Q72R;ENSG00000215472:ENST00000584895:exon3:c.A215G:p.Q72R;ENSG00000265681:ENST00000418495:exon4:c.A215G:p.Q72R;ENSG00000215472:ENST00000577910:exon3:c.A215G:p.Q72R;ENSG00000265681:ENST00000580261:exon4:c.A215G:p.Q72R;ENSG00000265681:ENST00000583637:exon5:c.A215G:p.Q72R;ENSG00000265681:ENST00000581373:exon3:c.A101G:p.Q34R;ENSG00000265681:ENST00000583036:exon5:c.A215G:p.Q72R;ENSG00000265681:ENST00000580387:exon4:c.A215G:p.Q72R;ENSG00000265681:ENST00000579248:exon4:c.A215G:p.Q72R;ENSG00000265681:ENST00000579408:exon3:c.A215G:p.Q72R;ENSG00000265681:ENST00000580210:exon3:c.A185G:p.Q62R;	0.999540937970694	0.976
18	47017164	T	G	18	49490794	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon3:c.A101C:p.Q34P;RPL17:NM_001199340:exon5:c.A215C:p.Q72P;RPL17:NM_001199341:exon4:c.A215C:p.Q72P;RPL17:NM_001199342:exon5:c.A215C:p.Q72P;RPL17:NM_000985:exon4:c.A215C:p.Q72P;RPL17:NM_001199343:exon5:c.A215C:p.Q72P;RPL17:NM_001035006:exon4:c.A215C:p.Q72P;RPL17:NM_001199345:exon3:c.A101C:p.Q34P;RPL17:NM_001199344:exon4:c.A215C:p.Q72P;RPL17-C18orf32:NM_001199355:exon3:c.A215C:p.Q72P;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon2:c.A101C:p.Q34P;ENSG00000265681:ENST00000578532:exon4:c.A215C:p.Q72P;ENSG00000215472:ENST00000584895:exon3:c.A215C:p.Q72P;ENSG00000265681:ENST00000418495:exon4:c.A215C:p.Q72P;ENSG00000215472:ENST00000577910:exon3:c.A215C:p.Q72P;ENSG00000265681:ENST00000580261:exon4:c.A215C:p.Q72P;ENSG00000265681:ENST00000583637:exon5:c.A215C:p.Q72P;ENSG00000265681:ENST00000581373:exon3:c.A101C:p.Q34P;ENSG00000265681:ENST00000583036:exon5:c.A215C:p.Q72P;ENSG00000265681:ENST00000580387:exon4:c.A215C:p.Q72P;ENSG00000265681:ENST00000579248:exon4:c.A215C:p.Q72P;ENSG00000265681:ENST00000579408:exon3:c.A215C:p.Q72P;ENSG00000265681:ENST00000580210:exon3:c.A185C:p.Q62P;	0.997037637750593	0.954
18	47017165	G	A	18	49490795	y	y	exonic	RPL17;RPL17-C18orf32	stopgain SNV	RPL17-C18orf32:NM_001199356:exon3:c.C100T:p.Q34X;RPL17:NM_001199340:exon5:c.C214T:p.Q72X;RPL17:NM_001199341:exon4:c.C214T:p.Q72X;RPL17:NM_001199342:exon5:c.C214T:p.Q72X;RPL17:NM_000985:exon4:c.C214T:p.Q72X;RPL17:NM_001199343:exon5:c.C214T:p.Q72X;RPL17:NM_001035006:exon4:c.C214T:p.Q72X;RPL17:NM_001199345:exon3:c.C100T:p.Q34X;RPL17:NM_001199344:exon4:c.C214T:p.Q72X;RPL17-C18orf32:NM_001199355:exon3:c.C214T:p.Q72X;	exonic	ENSG00000215472;ENSG00000265681	stopgain SNV	ENSG00000215472:ENST00000332968:exon2:c.C100T:p.Q34X;ENSG00000265681:ENST00000578532:exon4:c.C214T:p.Q72X;ENSG00000215472:ENST00000584895:exon3:c.C214T:p.Q72X;ENSG00000265681:ENST00000418495:exon4:c.C214T:p.Q72X;ENSG00000215472:ENST00000577910:exon3:c.C214T:p.Q72X;ENSG00000265681:ENST00000580261:exon4:c.C214T:p.Q72X;ENSG00000265681:ENST00000583637:exon5:c.C214T:p.Q72X;ENSG00000265681:ENST00000581373:exon3:c.C100T:p.Q34X;ENSG00000265681:ENST00000583036:exon5:c.C214T:p.Q72X;ENSG00000265681:ENST00000580387:exon4:c.C214T:p.Q72X;ENSG00000265681:ENST00000579248:exon4:c.C214T:p.Q72X;ENSG00000265681:ENST00000579408:exon3:c.C214T:p.Q72X;ENSG00000265681:ENST00000580210:exon3:c.C184T:p.Q62X;	0.997769569777711	0.874
18	47017165	G	C	18	49490795	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon3:c.C100G:p.Q34E;RPL17:NM_001199340:exon5:c.C214G:p.Q72E;RPL17:NM_001199341:exon4:c.C214G:p.Q72E;RPL17:NM_001199342:exon5:c.C214G:p.Q72E;RPL17:NM_000985:exon4:c.C214G:p.Q72E;RPL17:NM_001199343:exon5:c.C214G:p.Q72E;RPL17:NM_001035006:exon4:c.C214G:p.Q72E;RPL17:NM_001199345:exon3:c.C100G:p.Q34E;RPL17:NM_001199344:exon4:c.C214G:p.Q72E;RPL17-C18orf32:NM_001199355:exon3:c.C214G:p.Q72E;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon2:c.C100G:p.Q34E;ENSG00000265681:ENST00000578532:exon4:c.C214G:p.Q72E;ENSG00000215472:ENST00000584895:exon3:c.C214G:p.Q72E;ENSG00000265681:ENST00000418495:exon4:c.C214G:p.Q72E;ENSG00000215472:ENST00000577910:exon3:c.C214G:p.Q72E;ENSG00000265681:ENST00000580261:exon4:c.C214G:p.Q72E;ENSG00000265681:ENST00000583637:exon5:c.C214G:p.Q72E;ENSG00000265681:ENST00000581373:exon3:c.C100G:p.Q34E;ENSG00000265681:ENST00000583036:exon5:c.C214G:p.Q72E;ENSG00000265681:ENST00000580387:exon4:c.C214G:p.Q72E;ENSG00000265681:ENST00000579248:exon4:c.C214G:p.Q72E;ENSG00000265681:ENST00000579408:exon3:c.C214G:p.Q72E;ENSG00000265681:ENST00000580210:exon3:c.C184G:p.Q62E;	0.81016016915393	0.638
18	47017165	G	T	18	49490795	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17-C18orf32:NM_001199356:exon3:c.C100A:p.Q34K;RPL17:NM_001199340:exon5:c.C214A:p.Q72K;RPL17:NM_001199341:exon4:c.C214A:p.Q72K;RPL17:NM_001199342:exon5:c.C214A:p.Q72K;RPL17:NM_000985:exon4:c.C214A:p.Q72K;RPL17:NM_001199343:exon5:c.C214A:p.Q72K;RPL17:NM_001035006:exon4:c.C214A:p.Q72K;RPL17:NM_001199345:exon3:c.C100A:p.Q34K;RPL17:NM_001199344:exon4:c.C214A:p.Q72K;RPL17-C18orf32:NM_001199355:exon3:c.C214A:p.Q72K;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000215472:ENST00000332968:exon2:c.C100A:p.Q34K;ENSG00000265681:ENST00000578532:exon4:c.C214A:p.Q72K;ENSG00000215472:ENST00000584895:exon3:c.C214A:p.Q72K;ENSG00000265681:ENST00000418495:exon4:c.C214A:p.Q72K;ENSG00000215472:ENST00000577910:exon3:c.C214A:p.Q72K;ENSG00000265681:ENST00000580261:exon4:c.C214A:p.Q72K;ENSG00000265681:ENST00000583637:exon5:c.C214A:p.Q72K;ENSG00000265681:ENST00000581373:exon3:c.C100A:p.Q34K;ENSG00000265681:ENST00000583036:exon5:c.C214A:p.Q72K;ENSG00000265681:ENST00000580387:exon4:c.C214A:p.Q72K;ENSG00000265681:ENST00000579248:exon4:c.C214A:p.Q72K;ENSG00000265681:ENST00000579408:exon3:c.C214A:p.Q72K;ENSG00000265681:ENST00000580210:exon3:c.C184A:p.Q62K;	0.835592119436892	0.814
18	47017296	T	A	18	49490926	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon5:c.A83T:p.N28I;RPL17:NM_001199341:exon4:c.A83T:p.N28I;RPL17:NM_001199342:exon5:c.A83T:p.N28I;RPL17:NM_000985:exon4:c.A83T:p.N28I;RPL17:NM_001199343:exon5:c.A83T:p.N28I;RPL17:NM_001035006:exon4:c.A83T:p.N28I;RPL17:NM_001199344:exon4:c.A83T:p.N28I;RPL17-C18orf32:NM_001199355:exon3:c.A83T:p.N28I;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon4:c.A83T:p.N28I;ENSG00000215472:ENST00000584895:exon3:c.A83T:p.N28I;ENSG00000265681:ENST00000418495:exon4:c.A83T:p.N28I;ENSG00000215472:ENST00000577910:exon3:c.A83T:p.N28I;ENSG00000265681:ENST00000580261:exon4:c.A83T:p.N28I;ENSG00000265681:ENST00000583637:exon5:c.A83T:p.N28I;ENSG00000265681:ENST00000578528:exon4:c.A83T:p.N28I;ENSG00000265681:ENST00000583036:exon5:c.A83T:p.N28I;ENSG00000265681:ENST00000580387:exon4:c.A83T:p.N28I;ENSG00000265681:ENST00000579248:exon4:c.A83T:p.N28I;ENSG00000265681:ENST00000579408:exon3:c.A83T:p.N28I;ENSG00000265681:ENST00000580210:exon3:c.A53T:p.N18I;	0.663325827016413	0.714
18	47017296	T	C	18	49490926	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon5:c.A83G:p.N28S;RPL17:NM_001199341:exon4:c.A83G:p.N28S;RPL17:NM_001199342:exon5:c.A83G:p.N28S;RPL17:NM_000985:exon4:c.A83G:p.N28S;RPL17:NM_001199343:exon5:c.A83G:p.N28S;RPL17:NM_001035006:exon4:c.A83G:p.N28S;RPL17:NM_001199344:exon4:c.A83G:p.N28S;RPL17-C18orf32:NM_001199355:exon3:c.A83G:p.N28S;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon4:c.A83G:p.N28S;ENSG00000215472:ENST00000584895:exon3:c.A83G:p.N28S;ENSG00000265681:ENST00000418495:exon4:c.A83G:p.N28S;ENSG00000215472:ENST00000577910:exon3:c.A83G:p.N28S;ENSG00000265681:ENST00000580261:exon4:c.A83G:p.N28S;ENSG00000265681:ENST00000583637:exon5:c.A83G:p.N28S;ENSG00000265681:ENST00000578528:exon4:c.A83G:p.N28S;ENSG00000265681:ENST00000583036:exon5:c.A83G:p.N28S;ENSG00000265681:ENST00000580387:exon4:c.A83G:p.N28S;ENSG00000265681:ENST00000579248:exon4:c.A83G:p.N28S;ENSG00000265681:ENST00000579408:exon3:c.A83G:p.N28S;ENSG00000265681:ENST00000580210:exon3:c.A53G:p.N18S;	0.725239600402724	0.694
18	47017296	T	G	18	49490926	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon5:c.A83C:p.N28T;RPL17:NM_001199341:exon4:c.A83C:p.N28T;RPL17:NM_001199342:exon5:c.A83C:p.N28T;RPL17:NM_000985:exon4:c.A83C:p.N28T;RPL17:NM_001199343:exon5:c.A83C:p.N28T;RPL17:NM_001035006:exon4:c.A83C:p.N28T;RPL17:NM_001199344:exon4:c.A83C:p.N28T;RPL17-C18orf32:NM_001199355:exon3:c.A83C:p.N28T;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon4:c.A83C:p.N28T;ENSG00000215472:ENST00000584895:exon3:c.A83C:p.N28T;ENSG00000265681:ENST00000418495:exon4:c.A83C:p.N28T;ENSG00000215472:ENST00000577910:exon3:c.A83C:p.N28T;ENSG00000265681:ENST00000580261:exon4:c.A83C:p.N28T;ENSG00000265681:ENST00000583637:exon5:c.A83C:p.N28T;ENSG00000265681:ENST00000578528:exon4:c.A83C:p.N28T;ENSG00000265681:ENST00000583036:exon5:c.A83C:p.N28T;ENSG00000265681:ENST00000580387:exon4:c.A83C:p.N28T;ENSG00000265681:ENST00000579248:exon4:c.A83C:p.N28T;ENSG00000265681:ENST00000579408:exon3:c.A83C:p.N28T;ENSG00000265681:ENST00000580210:exon3:c.A53C:p.N18T;	0.750566084007104	0.78
18	47017297	T	A	18	49490927	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon5:c.A82T:p.N28Y;RPL17:NM_001199341:exon4:c.A82T:p.N28Y;RPL17:NM_001199342:exon5:c.A82T:p.N28Y;RPL17:NM_000985:exon4:c.A82T:p.N28Y;RPL17:NM_001199343:exon5:c.A82T:p.N28Y;RPL17:NM_001035006:exon4:c.A82T:p.N28Y;RPL17:NM_001199344:exon4:c.A82T:p.N28Y;RPL17-C18orf32:NM_001199355:exon3:c.A82T:p.N28Y;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon4:c.A82T:p.N28Y;ENSG00000215472:ENST00000584895:exon3:c.A82T:p.N28Y;ENSG00000265681:ENST00000418495:exon4:c.A82T:p.N28Y;ENSG00000215472:ENST00000577910:exon3:c.A82T:p.N28Y;ENSG00000265681:ENST00000580261:exon4:c.A82T:p.N28Y;ENSG00000265681:ENST00000583637:exon5:c.A82T:p.N28Y;ENSG00000265681:ENST00000578528:exon4:c.A82T:p.N28Y;ENSG00000265681:ENST00000583036:exon5:c.A82T:p.N28Y;ENSG00000265681:ENST00000580387:exon4:c.A82T:p.N28Y;ENSG00000265681:ENST00000579248:exon4:c.A82T:p.N28Y;ENSG00000265681:ENST00000579408:exon3:c.A82T:p.N28Y;ENSG00000265681:ENST00000580210:exon3:c.A52T:p.N18Y;	0.513346291067656	0.5
18	47017297	T	C	18	49490927	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon5:c.A82G:p.N28D;RPL17:NM_001199341:exon4:c.A82G:p.N28D;RPL17:NM_001199342:exon5:c.A82G:p.N28D;RPL17:NM_000985:exon4:c.A82G:p.N28D;RPL17:NM_001199343:exon5:c.A82G:p.N28D;RPL17:NM_001035006:exon4:c.A82G:p.N28D;RPL17:NM_001199344:exon4:c.A82G:p.N28D;RPL17-C18orf32:NM_001199355:exon3:c.A82G:p.N28D;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon4:c.A82G:p.N28D;ENSG00000215472:ENST00000584895:exon3:c.A82G:p.N28D;ENSG00000265681:ENST00000418495:exon4:c.A82G:p.N28D;ENSG00000215472:ENST00000577910:exon3:c.A82G:p.N28D;ENSG00000265681:ENST00000580261:exon4:c.A82G:p.N28D;ENSG00000265681:ENST00000583637:exon5:c.A82G:p.N28D;ENSG00000265681:ENST00000578528:exon4:c.A82G:p.N28D;ENSG00000265681:ENST00000583036:exon5:c.A82G:p.N28D;ENSG00000265681:ENST00000580387:exon4:c.A82G:p.N28D;ENSG00000265681:ENST00000579248:exon4:c.A82G:p.N28D;ENSG00000265681:ENST00000579408:exon3:c.A82G:p.N28D;ENSG00000265681:ENST00000580210:exon3:c.A52G:p.N18D;	0.427575116887405	0.552
18	47017297	T	G	18	49490927	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon5:c.A82C:p.N28H;RPL17:NM_001199341:exon4:c.A82C:p.N28H;RPL17:NM_001199342:exon5:c.A82C:p.N28H;RPL17:NM_000985:exon4:c.A82C:p.N28H;RPL17:NM_001199343:exon5:c.A82C:p.N28H;RPL17:NM_001035006:exon4:c.A82C:p.N28H;RPL17:NM_001199344:exon4:c.A82C:p.N28H;RPL17-C18orf32:NM_001199355:exon3:c.A82C:p.N28H;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon4:c.A82C:p.N28H;ENSG00000215472:ENST00000584895:exon3:c.A82C:p.N28H;ENSG00000265681:ENST00000418495:exon4:c.A82C:p.N28H;ENSG00000215472:ENST00000577910:exon3:c.A82C:p.N28H;ENSG00000265681:ENST00000580261:exon4:c.A82C:p.N28H;ENSG00000265681:ENST00000583637:exon5:c.A82C:p.N28H;ENSG00000265681:ENST00000578528:exon4:c.A82C:p.N28H;ENSG00000265681:ENST00000583036:exon5:c.A82C:p.N28H;ENSG00000265681:ENST00000580387:exon4:c.A82C:p.N28H;ENSG00000265681:ENST00000579248:exon4:c.A82C:p.N28H;ENSG00000265681:ENST00000579408:exon3:c.A82C:p.N28H;ENSG00000265681:ENST00000580210:exon3:c.A52C:p.N18H;	0.634806158117648	0.572
18	47017298	C	A	18	49490928	y	y	splicing	RPL17(NM_000985:exon5:c.82-1G>T;NM_001199344:exon5:c.82-1G>T;NM_001199343:exon6:c.82-1G>T;NM_001035006:exon5:c.82-1G>T;NM_001199341:exon5:c.82-1G>T;NM_001199340:exon6:c.82-1G>T;NM_001199342:exon6:c.82-1G>T);RPL17-C18orf32(NM_001199355:exon4:c.82-1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.82-1G>T;ENST00000577910:exon4:c.82-1G>T);ENSG00000265681(ENST00000580261:exon5:c.82-1G>T;ENST00000579248:exon5:c.82-1G>T;ENST00000579408:exon4:c.82-1G>T;ENST00000418495:exon5:c.82-1G>T;ENST00000580210:exon4:c.52-1G>T;ENST00000583637:exon6:c.82-1G>T;ENST00000578532:exon5:c.82-1G>T;ENST00000583036:exon6:c.82-1G>T;ENST00000580387:exon5:c.82-1G>T;ENST00000578528:exon5:c.82-1G>T)	.	.	0.999801039146854	0.808
18	47017298	C	G	18	49490928	y	y	splicing	RPL17(NM_000985:exon5:c.82-1G>C;NM_001199344:exon5:c.82-1G>C;NM_001199343:exon6:c.82-1G>C;NM_001035006:exon5:c.82-1G>C;NM_001199341:exon5:c.82-1G>C;NM_001199340:exon6:c.82-1G>C;NM_001199342:exon6:c.82-1G>C);RPL17-C18orf32(NM_001199355:exon4:c.82-1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.82-1G>C;ENST00000577910:exon4:c.82-1G>C);ENSG00000265681(ENST00000580261:exon5:c.82-1G>C;ENST00000579248:exon5:c.82-1G>C;ENST00000579408:exon4:c.82-1G>C;ENST00000418495:exon5:c.82-1G>C;ENST00000580210:exon4:c.52-1G>C;ENST00000583637:exon6:c.82-1G>C;ENST00000578532:exon5:c.82-1G>C;ENST00000583036:exon6:c.82-1G>C;ENST00000580387:exon5:c.82-1G>C;ENST00000578528:exon5:c.82-1G>C)	.	.	0.999801039146854	0.804
18	47017298	C	T	18	49490928	y	y	splicing	RPL17(NM_000985:exon5:c.82-1G>A;NM_001199344:exon5:c.82-1G>A;NM_001199343:exon6:c.82-1G>A;NM_001035006:exon5:c.82-1G>A;NM_001199341:exon5:c.82-1G>A;NM_001199340:exon6:c.82-1G>A;NM_001199342:exon6:c.82-1G>A);RPL17-C18orf32(NM_001199355:exon4:c.82-1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.82-1G>A;ENST00000577910:exon4:c.82-1G>A);ENSG00000265681(ENST00000580261:exon5:c.82-1G>A;ENST00000579248:exon5:c.82-1G>A;ENST00000579408:exon4:c.82-1G>A;ENST00000418495:exon5:c.82-1G>A;ENST00000580210:exon4:c.52-1G>A;ENST00000583637:exon6:c.82-1G>A;ENST00000578532:exon5:c.82-1G>A;ENST00000583036:exon6:c.82-1G>A;ENST00000580387:exon5:c.82-1G>A;ENST00000578528:exon5:c.82-1G>A)	.	.	0.999801039146854	0.844
18	47017299	T	A	18	49490929	y	y	splicing	RPL17(NM_000985:exon5:c.82-2A>T;NM_001199344:exon5:c.82-2A>T;NM_001199343:exon6:c.82-2A>T;NM_001035006:exon5:c.82-2A>T;NM_001199341:exon5:c.82-2A>T;NM_001199340:exon6:c.82-2A>T;NM_001199342:exon6:c.82-2A>T);RPL17-C18orf32(NM_001199355:exon4:c.82-2A>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.82-2A>T;ENST00000577910:exon4:c.82-2A>T);ENSG00000265681(ENST00000580261:exon5:c.82-2A>T;ENST00000579248:exon5:c.82-2A>T;ENST00000579408:exon4:c.82-2A>T;ENST00000418495:exon5:c.82-2A>T;ENST00000580210:exon4:c.52-2A>T;ENST00000583637:exon6:c.82-2A>T;ENST00000578532:exon5:c.82-2A>T;ENST00000583036:exon6:c.82-2A>T;ENST00000580387:exon5:c.82-2A>T;ENST00000578528:exon5:c.82-2A>T)	.	.	0.999979323567365	0.714
18	47017299	T	C	18	49490929	y	y	splicing	RPL17(NM_000985:exon5:c.82-2A>G;NM_001199344:exon5:c.82-2A>G;NM_001199343:exon6:c.82-2A>G;NM_001035006:exon5:c.82-2A>G;NM_001199341:exon5:c.82-2A>G;NM_001199340:exon6:c.82-2A>G;NM_001199342:exon6:c.82-2A>G);RPL17-C18orf32(NM_001199355:exon4:c.82-2A>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.82-2A>G;ENST00000577910:exon4:c.82-2A>G);ENSG00000265681(ENST00000580261:exon5:c.82-2A>G;ENST00000579248:exon5:c.82-2A>G;ENST00000579408:exon4:c.82-2A>G;ENST00000418495:exon5:c.82-2A>G;ENST00000580210:exon4:c.52-2A>G;ENST00000583637:exon6:c.82-2A>G;ENST00000578532:exon5:c.82-2A>G;ENST00000583036:exon6:c.82-2A>G;ENST00000580387:exon5:c.82-2A>G;ENST00000578528:exon5:c.82-2A>G)	.	.	0.999979323567365	0.712
18	47017299	T	G	18	49490929	y	y	splicing	RPL17(NM_000985:exon5:c.82-2A>C;NM_001199344:exon5:c.82-2A>C;NM_001199343:exon6:c.82-2A>C;NM_001035006:exon5:c.82-2A>C;NM_001199341:exon5:c.82-2A>C;NM_001199340:exon6:c.82-2A>C;NM_001199342:exon6:c.82-2A>C);RPL17-C18orf32(NM_001199355:exon4:c.82-2A>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon4:c.82-2A>C;ENST00000577910:exon4:c.82-2A>C);ENSG00000265681(ENST00000580261:exon5:c.82-2A>C;ENST00000579248:exon5:c.82-2A>C;ENST00000579408:exon4:c.82-2A>C;ENST00000418495:exon5:c.82-2A>C;ENST00000580210:exon4:c.52-2A>C;ENST00000583637:exon6:c.82-2A>C;ENST00000578532:exon5:c.82-2A>C;ENST00000583036:exon6:c.82-2A>C;ENST00000580387:exon5:c.82-2A>C;ENST00000578528:exon5:c.82-2A>C)	.	.	0.999979323567365	0.712
18	47017300	A	C	18	49490930	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.964553240250034	0.666
18	47017300	A	G	18	49490930	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	6.22647012004897E-5	0.02
18	47017300	A	T	18	49490930	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0490615108284875	0.36
18	47017301	A	C	18	49490931	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.83955804489787E-4	0.034
18	47017301	A	G	18	49490931	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.62822992985546E-5	0.02
18	47017301	A	T	18	49490931	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.22893300867164E-4	0.02
18	47017302	G	A	18	49490932	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.8610002372876E-5	0.004
18	47017302	G	C	18	49490932	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.99848019370917	0.774
18	47017302	G	T	18	49490932	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.31163136396565E-5	0.046
18	47017303	T	A	18	49490933	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.6374899029261E-5	0.004
18	47017303	T	C	18	49490933	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.15769649047316E-4	0.0
18	47017303	T	G	18	49490933	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.00180369140292E-5	0.006
18	47017304	A	C	18	49490934	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.99808828997085	0.914
18	47017304	A	G	18	49490934	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.28831264574072E-5	0.002
18	47017304	A	T	18	49490934	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00112312494582725	0.036
18	47017305	T	A	18	49490935	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.42954537825878E-5	0.0
18	47017305	T	C	18	49490935	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.35910393293919E-5	0.006
18	47017305	T	G	18	49490935	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.50161416629766E-5	0.0
18	47017306	G	A	18	49490936	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.6729367058015E-5	0.004
18	47017306	G	C	18	49490936	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0012571290932635	0.098
18	47017306	G	T	18	49490936	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.53892535573679E-4	0.054
18	47017307	A	C	18	49490937	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.151620247777166	0.386
18	47017307	A	G	18	49490937	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.07636288859705E-4	0.016
18	47017307	A	T	18	49490937	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0338389166034312	0.386
18	47017308	A	C	18	49490938	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0878247116673786	0.51
18	47017308	A	G	18	49490938	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00579345935524264	0.198
18	47017308	A	T	18	49490938	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.203108163444315	0.564
18	47017309	G	A	18	49490939	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.27219349862041E-5	0.0
18	47017309	G	C	18	49490939	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.76200455528937E-4	0.094
18	47017309	G	T	18	49490939	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.33099040525801E-4	0.058
18	47017767	T	A	18	49491397	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.65823046292135E-5	0.0
18	47017767	T	C	18	49491397	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.71242653242957E-5	0.0
18	47017767	T	G	18	49491397	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.28914150840534E-5	0.0
18	47017768	C	A	18	49491398	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	9.58280083939169E-5	0.0
18	47017768	C	G	18	49491398	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.11233593772602E-5	0.0
18	47017768	C	T	18	49491398	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.32811126990443E-4	0.002
18	47017769	G	A	18	49491399	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.29813102614474E-5	0.01
18	47017769	G	C	18	49491399	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.22776462078938E-5	0.008
18	47017769	G	T	18	49491399	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.30415086999673E-4	0.004
18	47017770	C	A	18	49491400	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.976421069376986	0.58
18	47017770	C	G	18	49491400	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.32799524588574	0.492
18	47017770	C	T	18	49491400	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.352811298080385	0.43
18	47017771	A	C	18	49491401	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	7.88477475759513E-5	0.0
18	47017771	A	G	18	49491401	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.68312105759537E-5	0.0
18	47017771	A	T	18	49491401	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	4.33696033149439E-5	0.016
18	47017772	T	A	18	49491402	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.95551246535049	0.62
18	47017772	T	C	18	49491402	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.129160655885625	0.424
18	47017772	T	G	18	49491402	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.952187234224394	0.544
18	47017773	A	C	18	49491403	y	y	splicing	RPL17(NM_000985:exon4:c.81+2T>G;NM_001199344:exon4:c.81+2T>G;NM_001199343:exon5:c.81+2T>G;NM_001035006:exon4:c.81+2T>G;NM_001199341:exon4:c.81+2T>G;NM_001199340:exon5:c.81+2T>G;NM_001199342:exon5:c.81+2T>G);RPL17-C18orf32(NM_001199355:exon3:c.81+2T>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.81+2T>G;ENST00000577910:exon3:c.81+2T>G);ENSG00000265681(ENST00000580261:exon4:c.81+2T>G;ENST00000579248:exon4:c.81+2T>G;ENST00000579408:exon3:c.81+2T>G;ENST00000418495:exon4:c.81+2T>G;ENST00000580210:exon3:c.51+2T>G;ENST00000583637:exon5:c.81+2T>G;ENST00000578532:exon4:c.81+2T>G;ENST00000583036:exon5:c.81+2T>G;ENST00000580387:exon4:c.81+2T>G;ENST00000578528:exon4:c.81+2T>G)	.	.	0.999929575678921	0.766
18	47017773	A	G	18	49491403	y	y	splicing	RPL17(NM_000985:exon4:c.81+2T>C;NM_001199344:exon4:c.81+2T>C;NM_001199343:exon5:c.81+2T>C;NM_001035006:exon4:c.81+2T>C;NM_001199341:exon4:c.81+2T>C;NM_001199340:exon5:c.81+2T>C;NM_001199342:exon5:c.81+2T>C);RPL17-C18orf32(NM_001199355:exon3:c.81+2T>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.81+2T>C;ENST00000577910:exon3:c.81+2T>C);ENSG00000265681(ENST00000580261:exon4:c.81+2T>C;ENST00000579248:exon4:c.81+2T>C;ENST00000579408:exon3:c.81+2T>C;ENST00000418495:exon4:c.81+2T>C;ENST00000580210:exon3:c.51+2T>C;ENST00000583637:exon5:c.81+2T>C;ENST00000578532:exon4:c.81+2T>C;ENST00000583036:exon5:c.81+2T>C;ENST00000580387:exon4:c.81+2T>C;ENST00000578528:exon4:c.81+2T>C)	.	.	0.933129327253463	0.478
18	47017773	A	T	18	49491403	y	y	splicing	RPL17(NM_000985:exon4:c.81+2T>A;NM_001199344:exon4:c.81+2T>A;NM_001199343:exon5:c.81+2T>A;NM_001035006:exon4:c.81+2T>A;NM_001199341:exon4:c.81+2T>A;NM_001199340:exon5:c.81+2T>A;NM_001199342:exon5:c.81+2T>A);RPL17-C18orf32(NM_001199355:exon3:c.81+2T>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.81+2T>A;ENST00000577910:exon3:c.81+2T>A);ENSG00000265681(ENST00000580261:exon4:c.81+2T>A;ENST00000579248:exon4:c.81+2T>A;ENST00000579408:exon3:c.81+2T>A;ENST00000418495:exon4:c.81+2T>A;ENST00000580210:exon3:c.51+2T>A;ENST00000583637:exon5:c.81+2T>A;ENST00000578532:exon4:c.81+2T>A;ENST00000583036:exon5:c.81+2T>A;ENST00000580387:exon4:c.81+2T>A;ENST00000578528:exon4:c.81+2T>A)	.	.	0.999946001720132	0.75
18	47017774	C	A	18	49491404	y	y	splicing	RPL17(NM_000985:exon4:c.81+1G>T;NM_001199344:exon4:c.81+1G>T;NM_001199343:exon5:c.81+1G>T;NM_001035006:exon4:c.81+1G>T;NM_001199341:exon4:c.81+1G>T;NM_001199340:exon5:c.81+1G>T;NM_001199342:exon5:c.81+1G>T);RPL17-C18orf32(NM_001199355:exon3:c.81+1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.81+1G>T;ENST00000577910:exon3:c.81+1G>T);ENSG00000265681(ENST00000580261:exon4:c.81+1G>T;ENST00000579248:exon4:c.81+1G>T;ENST00000579408:exon3:c.81+1G>T;ENST00000418495:exon4:c.81+1G>T;ENST00000580210:exon3:c.51+1G>T;ENST00000583637:exon5:c.81+1G>T;ENST00000578532:exon4:c.81+1G>T;ENST00000583036:exon5:c.81+1G>T;ENST00000580387:exon4:c.81+1G>T;ENST00000578528:exon4:c.81+1G>T)	.	.	0.999958003653399	0.856
18	47017774	C	G	18	49491404	y	y	splicing	RPL17(NM_000985:exon4:c.81+1G>C;NM_001199344:exon4:c.81+1G>C;NM_001199343:exon5:c.81+1G>C;NM_001035006:exon4:c.81+1G>C;NM_001199341:exon4:c.81+1G>C;NM_001199340:exon5:c.81+1G>C;NM_001199342:exon5:c.81+1G>C);RPL17-C18orf32(NM_001199355:exon3:c.81+1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.81+1G>C;ENST00000577910:exon3:c.81+1G>C);ENSG00000265681(ENST00000580261:exon4:c.81+1G>C;ENST00000579248:exon4:c.81+1G>C;ENST00000579408:exon3:c.81+1G>C;ENST00000418495:exon4:c.81+1G>C;ENST00000580210:exon3:c.51+1G>C;ENST00000583637:exon5:c.81+1G>C;ENST00000578532:exon4:c.81+1G>C;ENST00000583036:exon5:c.81+1G>C;ENST00000580387:exon4:c.81+1G>C;ENST00000578528:exon4:c.81+1G>C)	.	.	0.999958003653399	0.82
18	47017774	C	T	18	49491404	y	y	splicing	RPL17(NM_000985:exon4:c.81+1G>A;NM_001199344:exon4:c.81+1G>A;NM_001199343:exon5:c.81+1G>A;NM_001035006:exon4:c.81+1G>A;NM_001199341:exon4:c.81+1G>A;NM_001199340:exon5:c.81+1G>A;NM_001199342:exon5:c.81+1G>A);RPL17-C18orf32(NM_001199355:exon3:c.81+1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.81+1G>A;ENST00000577910:exon3:c.81+1G>A);ENSG00000265681(ENST00000580261:exon4:c.81+1G>A;ENST00000579248:exon4:c.81+1G>A;ENST00000579408:exon3:c.81+1G>A;ENST00000418495:exon4:c.81+1G>A;ENST00000580210:exon3:c.51+1G>A;ENST00000583637:exon5:c.81+1G>A;ENST00000578532:exon4:c.81+1G>A;ENST00000583036:exon5:c.81+1G>A;ENST00000580387:exon4:c.81+1G>A;ENST00000578528:exon4:c.81+1G>A)	.	.	0.999965143305126	0.862
18	47017775	C	A	18	49491405	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon4:c.G81T:p.K27N;RPL17:NM_001199341:exon3:c.G81T:p.K27N;RPL17:NM_001199342:exon4:c.G81T:p.K27N;RPL17:NM_000985:exon3:c.G81T:p.K27N;RPL17:NM_001199343:exon4:c.G81T:p.K27N;RPL17:NM_001035006:exon3:c.G81T:p.K27N;RPL17:NM_001199344:exon3:c.G81T:p.K27N;RPL17-C18orf32:NM_001199355:exon2:c.G81T:p.K27N;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.G81T:p.K27N;ENSG00000215472:ENST00000584895:exon2:c.G81T:p.K27N;ENSG00000265681:ENST00000418495:exon3:c.G81T:p.K27N;ENSG00000215472:ENST00000577910:exon2:c.G81T:p.K27N;ENSG00000265681:ENST00000580261:exon3:c.G81T:p.K27N;ENSG00000265681:ENST00000583637:exon4:c.G81T:p.K27N;ENSG00000265681:ENST00000578528:exon3:c.G81T:p.K27N;ENSG00000265681:ENST00000583036:exon4:c.G81T:p.K27N;ENSG00000265681:ENST00000580387:exon3:c.G81T:p.K27N;ENSG00000265681:ENST00000579248:exon3:c.G81T:p.K27N;ENSG00000265681:ENST00000579408:exon2:c.G81T:p.K27N;ENSG00000265681:ENST00000580210:exon2:c.G51T:p.K17N;	0.999978878926837	0.998
18	47017775	C	G	18	49491405	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon4:c.G81C:p.K27N;RPL17:NM_001199341:exon3:c.G81C:p.K27N;RPL17:NM_001199342:exon4:c.G81C:p.K27N;RPL17:NM_000985:exon3:c.G81C:p.K27N;RPL17:NM_001199343:exon4:c.G81C:p.K27N;RPL17:NM_001035006:exon3:c.G81C:p.K27N;RPL17:NM_001199344:exon3:c.G81C:p.K27N;RPL17-C18orf32:NM_001199355:exon2:c.G81C:p.K27N;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.G81C:p.K27N;ENSG00000215472:ENST00000584895:exon2:c.G81C:p.K27N;ENSG00000265681:ENST00000418495:exon3:c.G81C:p.K27N;ENSG00000215472:ENST00000577910:exon2:c.G81C:p.K27N;ENSG00000265681:ENST00000580261:exon3:c.G81C:p.K27N;ENSG00000265681:ENST00000583637:exon4:c.G81C:p.K27N;ENSG00000265681:ENST00000578528:exon3:c.G81C:p.K27N;ENSG00000265681:ENST00000583036:exon4:c.G81C:p.K27N;ENSG00000265681:ENST00000580387:exon3:c.G81C:p.K27N;ENSG00000265681:ENST00000579248:exon3:c.G81C:p.K27N;ENSG00000265681:ENST00000579408:exon2:c.G81C:p.K27N;ENSG00000265681:ENST00000580210:exon2:c.G51C:p.K17N;	0.999993753698924	0.984
18	47017775	C	T	18	49491405	y	y	exonic	RPL17;RPL17-C18orf32	synonymous SNV	RPL17:NM_001199340:exon4:c.G81A:p.K27K;RPL17:NM_001199341:exon3:c.G81A:p.K27K;RPL17:NM_001199342:exon4:c.G81A:p.K27K;RPL17:NM_000985:exon3:c.G81A:p.K27K;RPL17:NM_001199343:exon4:c.G81A:p.K27K;RPL17:NM_001035006:exon3:c.G81A:p.K27K;RPL17:NM_001199344:exon3:c.G81A:p.K27K;RPL17-C18orf32:NM_001199355:exon2:c.G81A:p.K27K;	exonic	ENSG00000215472;ENSG00000265681	synonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.G81A:p.K27K;ENSG00000215472:ENST00000584895:exon2:c.G81A:p.K27K;ENSG00000265681:ENST00000418495:exon3:c.G81A:p.K27K;ENSG00000215472:ENST00000577910:exon2:c.G81A:p.K27K;ENSG00000265681:ENST00000580261:exon3:c.G81A:p.K27K;ENSG00000265681:ENST00000583637:exon4:c.G81A:p.K27K;ENSG00000265681:ENST00000578528:exon3:c.G81A:p.K27K;ENSG00000265681:ENST00000583036:exon4:c.G81A:p.K27K;ENSG00000265681:ENST00000580387:exon3:c.G81A:p.K27K;ENSG00000265681:ENST00000579248:exon3:c.G81A:p.K27K;ENSG00000265681:ENST00000579408:exon2:c.G81A:p.K27K;ENSG00000265681:ENST00000580210:exon2:c.G51A:p.K17K;	0.999833709084008	0.966
18	47017776	T	A	18	49491406	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon4:c.A80T:p.K27M;RPL17:NM_001199341:exon3:c.A80T:p.K27M;RPL17:NM_001199342:exon4:c.A80T:p.K27M;RPL17:NM_000985:exon3:c.A80T:p.K27M;RPL17:NM_001199343:exon4:c.A80T:p.K27M;RPL17:NM_001035006:exon3:c.A80T:p.K27M;RPL17:NM_001199344:exon3:c.A80T:p.K27M;RPL17-C18orf32:NM_001199355:exon2:c.A80T:p.K27M;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.A80T:p.K27M;ENSG00000215472:ENST00000584895:exon2:c.A80T:p.K27M;ENSG00000265681:ENST00000418495:exon3:c.A80T:p.K27M;ENSG00000215472:ENST00000577910:exon2:c.A80T:p.K27M;ENSG00000265681:ENST00000580261:exon3:c.A80T:p.K27M;ENSG00000265681:ENST00000583637:exon4:c.A80T:p.K27M;ENSG00000265681:ENST00000578528:exon3:c.A80T:p.K27M;ENSG00000265681:ENST00000583036:exon4:c.A80T:p.K27M;ENSG00000265681:ENST00000580387:exon3:c.A80T:p.K27M;ENSG00000265681:ENST00000579248:exon3:c.A80T:p.K27M;ENSG00000265681:ENST00000579408:exon2:c.A80T:p.K27M;ENSG00000265681:ENST00000580210:exon2:c.A50T:p.K17M;	0.999700246841285	0.976
18	47017776	T	C	18	49491406	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon4:c.A80G:p.K27R;RPL17:NM_001199341:exon3:c.A80G:p.K27R;RPL17:NM_001199342:exon4:c.A80G:p.K27R;RPL17:NM_000985:exon3:c.A80G:p.K27R;RPL17:NM_001199343:exon4:c.A80G:p.K27R;RPL17:NM_001035006:exon3:c.A80G:p.K27R;RPL17:NM_001199344:exon3:c.A80G:p.K27R;RPL17-C18orf32:NM_001199355:exon2:c.A80G:p.K27R;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.A80G:p.K27R;ENSG00000215472:ENST00000584895:exon2:c.A80G:p.K27R;ENSG00000265681:ENST00000418495:exon3:c.A80G:p.K27R;ENSG00000215472:ENST00000577910:exon2:c.A80G:p.K27R;ENSG00000265681:ENST00000580261:exon3:c.A80G:p.K27R;ENSG00000265681:ENST00000583637:exon4:c.A80G:p.K27R;ENSG00000265681:ENST00000578528:exon3:c.A80G:p.K27R;ENSG00000265681:ENST00000583036:exon4:c.A80G:p.K27R;ENSG00000265681:ENST00000580387:exon3:c.A80G:p.K27R;ENSG00000265681:ENST00000579248:exon3:c.A80G:p.K27R;ENSG00000265681:ENST00000579408:exon2:c.A80G:p.K27R;ENSG00000265681:ENST00000580210:exon2:c.A50G:p.K17R;	0.999789702737436	0.994
18	47017776	T	G	18	49491406	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon4:c.A80C:p.K27T;RPL17:NM_001199341:exon3:c.A80C:p.K27T;RPL17:NM_001199342:exon4:c.A80C:p.K27T;RPL17:NM_000985:exon3:c.A80C:p.K27T;RPL17:NM_001199343:exon4:c.A80C:p.K27T;RPL17:NM_001035006:exon3:c.A80C:p.K27T;RPL17:NM_001199344:exon3:c.A80C:p.K27T;RPL17-C18orf32:NM_001199355:exon2:c.A80C:p.K27T;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.A80C:p.K27T;ENSG00000215472:ENST00000584895:exon2:c.A80C:p.K27T;ENSG00000265681:ENST00000418495:exon3:c.A80C:p.K27T;ENSG00000215472:ENST00000577910:exon2:c.A80C:p.K27T;ENSG00000265681:ENST00000580261:exon3:c.A80C:p.K27T;ENSG00000265681:ENST00000583637:exon4:c.A80C:p.K27T;ENSG00000265681:ENST00000578528:exon3:c.A80C:p.K27T;ENSG00000265681:ENST00000583036:exon4:c.A80C:p.K27T;ENSG00000265681:ENST00000580387:exon3:c.A80C:p.K27T;ENSG00000265681:ENST00000579248:exon3:c.A80C:p.K27T;ENSG00000265681:ENST00000579408:exon2:c.A80C:p.K27T;ENSG00000265681:ENST00000580210:exon2:c.A50C:p.K17T;	0.997732511403952	0.954
18	47017777	T	A	18	49491407	y	y	exonic	RPL17;RPL17-C18orf32	stopgain SNV	RPL17:NM_001199340:exon4:c.A79T:p.K27X;RPL17:NM_001199341:exon3:c.A79T:p.K27X;RPL17:NM_001199342:exon4:c.A79T:p.K27X;RPL17:NM_000985:exon3:c.A79T:p.K27X;RPL17:NM_001199343:exon4:c.A79T:p.K27X;RPL17:NM_001035006:exon3:c.A79T:p.K27X;RPL17:NM_001199344:exon3:c.A79T:p.K27X;RPL17-C18orf32:NM_001199355:exon2:c.A79T:p.K27X;	exonic	ENSG00000215472;ENSG00000265681	stopgain SNV	ENSG00000265681:ENST00000578532:exon3:c.A79T:p.K27X;ENSG00000215472:ENST00000584895:exon2:c.A79T:p.K27X;ENSG00000265681:ENST00000418495:exon3:c.A79T:p.K27X;ENSG00000215472:ENST00000577910:exon2:c.A79T:p.K27X;ENSG00000265681:ENST00000580261:exon3:c.A79T:p.K27X;ENSG00000265681:ENST00000583637:exon4:c.A79T:p.K27X;ENSG00000265681:ENST00000578528:exon3:c.A79T:p.K27X;ENSG00000265681:ENST00000583036:exon4:c.A79T:p.K27X;ENSG00000265681:ENST00000580387:exon3:c.A79T:p.K27X;ENSG00000265681:ENST00000579248:exon3:c.A79T:p.K27X;ENSG00000265681:ENST00000579408:exon2:c.A79T:p.K27X;ENSG00000265681:ENST00000580210:exon2:c.A49T:p.K17X;	0.948501485362664	0.67
18	47017777	T	C	18	49491407	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon4:c.A79G:p.K27E;RPL17:NM_001199341:exon3:c.A79G:p.K27E;RPL17:NM_001199342:exon4:c.A79G:p.K27E;RPL17:NM_000985:exon3:c.A79G:p.K27E;RPL17:NM_001199343:exon4:c.A79G:p.K27E;RPL17:NM_001035006:exon3:c.A79G:p.K27E;RPL17:NM_001199344:exon3:c.A79G:p.K27E;RPL17-C18orf32:NM_001199355:exon2:c.A79G:p.K27E;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.A79G:p.K27E;ENSG00000215472:ENST00000584895:exon2:c.A79G:p.K27E;ENSG00000265681:ENST00000418495:exon3:c.A79G:p.K27E;ENSG00000215472:ENST00000577910:exon2:c.A79G:p.K27E;ENSG00000265681:ENST00000580261:exon3:c.A79G:p.K27E;ENSG00000265681:ENST00000583637:exon4:c.A79G:p.K27E;ENSG00000265681:ENST00000578528:exon3:c.A79G:p.K27E;ENSG00000265681:ENST00000583036:exon4:c.A79G:p.K27E;ENSG00000265681:ENST00000580387:exon3:c.A79G:p.K27E;ENSG00000265681:ENST00000579248:exon3:c.A79G:p.K27E;ENSG00000265681:ENST00000579408:exon2:c.A79G:p.K27E;ENSG00000265681:ENST00000580210:exon2:c.A49G:p.K17E;	0.131299466764827	0.354
18	47017777	T	G	18	49491407	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon4:c.A79C:p.K27Q;RPL17:NM_001199341:exon3:c.A79C:p.K27Q;RPL17:NM_001199342:exon4:c.A79C:p.K27Q;RPL17:NM_000985:exon3:c.A79C:p.K27Q;RPL17:NM_001199343:exon4:c.A79C:p.K27Q;RPL17:NM_001035006:exon3:c.A79C:p.K27Q;RPL17:NM_001199344:exon3:c.A79C:p.K27Q;RPL17-C18orf32:NM_001199355:exon2:c.A79C:p.K27Q;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.A79C:p.K27Q;ENSG00000215472:ENST00000584895:exon2:c.A79C:p.K27Q;ENSG00000265681:ENST00000418495:exon3:c.A79C:p.K27Q;ENSG00000215472:ENST00000577910:exon2:c.A79C:p.K27Q;ENSG00000265681:ENST00000580261:exon3:c.A79C:p.K27Q;ENSG00000265681:ENST00000583637:exon4:c.A79C:p.K27Q;ENSG00000265681:ENST00000578528:exon3:c.A79C:p.K27Q;ENSG00000265681:ENST00000583036:exon4:c.A79C:p.K27Q;ENSG00000265681:ENST00000580387:exon3:c.A79C:p.K27Q;ENSG00000265681:ENST00000579248:exon3:c.A79C:p.K27Q;ENSG00000265681:ENST00000579408:exon2:c.A79C:p.K27Q;ENSG00000265681:ENST00000580210:exon2:c.A49C:p.K17Q;	0.572388850087543	0.518
18	47017814	T	A	18	49491444	y	y	exonic	RPL17;RPL17-C18orf32	synonymous SNV	RPL17:NM_001199340:exon4:c.A42T:p.S14S;RPL17:NM_001199341:exon3:c.A42T:p.S14S;RPL17:NM_001199342:exon4:c.A42T:p.S14S;RPL17:NM_000985:exon3:c.A42T:p.S14S;RPL17:NM_001199343:exon4:c.A42T:p.S14S;RPL17:NM_001035006:exon3:c.A42T:p.S14S;RPL17:NM_001199344:exon3:c.A42T:p.S14S;RPL17-C18orf32:NM_001199355:exon2:c.A42T:p.S14S;	exonic	ENSG00000215472;ENSG00000265681	synonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.A42T:p.S14S;ENSG00000215472:ENST00000584895:exon2:c.A42T:p.S14S;ENSG00000265681:ENST00000418495:exon3:c.A42T:p.S14S;ENSG00000215472:ENST00000577910:exon2:c.A42T:p.S14S;ENSG00000265681:ENST00000580261:exon3:c.A42T:p.S14S;ENSG00000265681:ENST00000583637:exon4:c.A42T:p.S14S;ENSG00000265681:ENST00000578528:exon3:c.A42T:p.S14S;ENSG00000265681:ENST00000583036:exon4:c.A42T:p.S14S;ENSG00000265681:ENST00000580387:exon3:c.A42T:p.S14S;ENSG00000265681:ENST00000579248:exon3:c.A42T:p.S14S;ENSG00000265681:ENST00000579408:exon2:c.A42T:p.S14S;ENSG00000265681:ENST00000580210:exon2:c.A12T:p.S4S;	3.2284158168012E-5	0.004
18	47017814	T	C	18	49491444	y	y	exonic	RPL17;RPL17-C18orf32	synonymous SNV	RPL17:NM_001199340:exon4:c.A42G:p.S14S;RPL17:NM_001199341:exon3:c.A42G:p.S14S;RPL17:NM_001199342:exon4:c.A42G:p.S14S;RPL17:NM_000985:exon3:c.A42G:p.S14S;RPL17:NM_001199343:exon4:c.A42G:p.S14S;RPL17:NM_001035006:exon3:c.A42G:p.S14S;RPL17:NM_001199344:exon3:c.A42G:p.S14S;RPL17-C18orf32:NM_001199355:exon2:c.A42G:p.S14S;	exonic	ENSG00000215472;ENSG00000265681	synonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.A42G:p.S14S;ENSG00000215472:ENST00000584895:exon2:c.A42G:p.S14S;ENSG00000265681:ENST00000418495:exon3:c.A42G:p.S14S;ENSG00000215472:ENST00000577910:exon2:c.A42G:p.S14S;ENSG00000265681:ENST00000580261:exon3:c.A42G:p.S14S;ENSG00000265681:ENST00000583637:exon4:c.A42G:p.S14S;ENSG00000265681:ENST00000578528:exon3:c.A42G:p.S14S;ENSG00000265681:ENST00000583036:exon4:c.A42G:p.S14S;ENSG00000265681:ENST00000580387:exon3:c.A42G:p.S14S;ENSG00000265681:ENST00000579248:exon3:c.A42G:p.S14S;ENSG00000265681:ENST00000579408:exon2:c.A42G:p.S14S;ENSG00000265681:ENST00000580210:exon2:c.A12G:p.S4S;	1.32978003433583E-4	0.02
18	47017814	T	G	18	49491444	y	y	exonic	RPL17;RPL17-C18orf32	synonymous SNV	RPL17:NM_001199340:exon4:c.A42C:p.S14S;RPL17:NM_001199341:exon3:c.A42C:p.S14S;RPL17:NM_001199342:exon4:c.A42C:p.S14S;RPL17:NM_000985:exon3:c.A42C:p.S14S;RPL17:NM_001199343:exon4:c.A42C:p.S14S;RPL17:NM_001035006:exon3:c.A42C:p.S14S;RPL17:NM_001199344:exon3:c.A42C:p.S14S;RPL17-C18orf32:NM_001199355:exon2:c.A42C:p.S14S;	exonic	ENSG00000215472;ENSG00000265681	synonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.A42C:p.S14S;ENSG00000215472:ENST00000584895:exon2:c.A42C:p.S14S;ENSG00000265681:ENST00000418495:exon3:c.A42C:p.S14S;ENSG00000215472:ENST00000577910:exon2:c.A42C:p.S14S;ENSG00000265681:ENST00000580261:exon3:c.A42C:p.S14S;ENSG00000265681:ENST00000583637:exon4:c.A42C:p.S14S;ENSG00000265681:ENST00000578528:exon3:c.A42C:p.S14S;ENSG00000265681:ENST00000583036:exon4:c.A42C:p.S14S;ENSG00000265681:ENST00000580387:exon3:c.A42C:p.S14S;ENSG00000265681:ENST00000579248:exon3:c.A42C:p.S14S;ENSG00000265681:ENST00000579408:exon2:c.A42C:p.S14S;ENSG00000265681:ENST00000580210:exon2:c.A12C:p.S4S;	2.59320332608627E-4	0.026
18	47017815	G	A	18	49491445	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon4:c.C41T:p.S14L;RPL17:NM_001199341:exon3:c.C41T:p.S14L;RPL17:NM_001199342:exon4:c.C41T:p.S14L;RPL17:NM_000985:exon3:c.C41T:p.S14L;RPL17:NM_001199343:exon4:c.C41T:p.S14L;RPL17:NM_001035006:exon3:c.C41T:p.S14L;RPL17:NM_001199344:exon3:c.C41T:p.S14L;RPL17-C18orf32:NM_001199355:exon2:c.C41T:p.S14L;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon3:c.C41T:p.S14L;ENSG00000215472:ENST00000584895:exon2:c.C41T:p.S14L;ENSG00000265681:ENST00000418495:exon3:c.C41T:p.S14L;ENSG00000215472:ENST00000577910:exon2:c.C41T:p.S14L;ENSG00000265681:ENST00000580261:exon3:c.C41T:p.S14L;ENSG00000265681:ENST00000583637:exon4:c.C41T:p.S14L;ENSG00000265681:ENST00000578528:exon3:c.C41T:p.S14L;ENSG00000265681:ENST00000583036:exon4:c.C41T:p.S14L;ENSG00000265681:ENST00000580387:exon3:c.C41T:p.S14L;ENSG00000265681:ENST00000579248:exon3:c.C41T:p.S14L;ENSG00000265681:ENST00000579408:exon2:c.C41T:p.S14L;ENSG00000265681:ENST00000580210:exon2:c.C11T:p.S4L;	0.993179230647215	0.83
18	47017815	G	C	18	49491445	y	y	exonic	RPL17;RPL17-C18orf32	stopgain SNV	RPL17:NM_001199340:exon4:c.C41G:p.S14X;RPL17:NM_001199341:exon3:c.C41G:p.S14X;RPL17:NM_001199342:exon4:c.C41G:p.S14X;RPL17:NM_000985:exon3:c.C41G:p.S14X;RPL17:NM_001199343:exon4:c.C41G:p.S14X;RPL17:NM_001035006:exon3:c.C41G:p.S14X;RPL17:NM_001199344:exon3:c.C41G:p.S14X;RPL17-C18orf32:NM_001199355:exon2:c.C41G:p.S14X;	exonic	ENSG00000215472;ENSG00000265681	stopgain SNV	ENSG00000265681:ENST00000578532:exon3:c.C41G:p.S14X;ENSG00000215472:ENST00000584895:exon2:c.C41G:p.S14X;ENSG00000265681:ENST00000418495:exon3:c.C41G:p.S14X;ENSG00000215472:ENST00000577910:exon2:c.C41G:p.S14X;ENSG00000265681:ENST00000580261:exon3:c.C41G:p.S14X;ENSG00000265681:ENST00000583637:exon4:c.C41G:p.S14X;ENSG00000265681:ENST00000578528:exon3:c.C41G:p.S14X;ENSG00000265681:ENST00000583036:exon4:c.C41G:p.S14X;ENSG00000265681:ENST00000580387:exon3:c.C41G:p.S14X;ENSG00000265681:ENST00000579248:exon3:c.C41G:p.S14X;ENSG00000265681:ENST00000579408:exon2:c.C41G:p.S14X;ENSG00000265681:ENST00000580210:exon2:c.C11G:p.S4X;	0.943435792595654	0.704
18	47017815	G	T	18	49491445	y	y	exonic	RPL17;RPL17-C18orf32	stopgain SNV	RPL17:NM_001199340:exon4:c.C41A:p.S14X;RPL17:NM_001199341:exon3:c.C41A:p.S14X;RPL17:NM_001199342:exon4:c.C41A:p.S14X;RPL17:NM_000985:exon3:c.C41A:p.S14X;RPL17:NM_001199343:exon4:c.C41A:p.S14X;RPL17:NM_001035006:exon3:c.C41A:p.S14X;RPL17:NM_001199344:exon3:c.C41A:p.S14X;RPL17-C18orf32:NM_001199355:exon2:c.C41A:p.S14X;	exonic	ENSG00000215472;ENSG00000265681	stopgain SNV	ENSG00000265681:ENST00000578532:exon3:c.C41A:p.S14X;ENSG00000215472:ENST00000584895:exon2:c.C41A:p.S14X;ENSG00000265681:ENST00000418495:exon3:c.C41A:p.S14X;ENSG00000215472:ENST00000577910:exon2:c.C41A:p.S14X;ENSG00000265681:ENST00000580261:exon3:c.C41A:p.S14X;ENSG00000265681:ENST00000583637:exon4:c.C41A:p.S14X;ENSG00000265681:ENST00000578528:exon3:c.C41A:p.S14X;ENSG00000265681:ENST00000583036:exon4:c.C41A:p.S14X;ENSG00000265681:ENST00000580387:exon3:c.C41A:p.S14X;ENSG00000265681:ENST00000579248:exon3:c.C41A:p.S14X;ENSG00000265681:ENST00000579408:exon2:c.C41A:p.S14X;ENSG00000265681:ENST00000580210:exon2:c.C11A:p.S4X;	0.935362493812062	0.768
18	47017816	C	A	18	49491446	y	y	splicing	RPL17(NM_000985:exon4:c.41-1G>T;NM_001199344:exon4:c.41-1G>T;NM_001199343:exon5:c.41-1G>T;NM_001035006:exon4:c.41-1G>T;NM_001199341:exon4:c.41-1G>T;NM_001199340:exon5:c.41-1G>T;NM_001199342:exon5:c.41-1G>T);RPL17-C18orf32(NM_001199355:exon3:c.41-1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.41-1G>T;ENST00000577910:exon3:c.41-1G>T);ENSG00000265681(ENST00000580261:exon4:c.41-1G>T;ENST00000579248:exon4:c.41-1G>T;ENST00000579408:exon3:c.41-1G>T;ENST00000418495:exon4:c.41-1G>T;ENST00000580210:exon3:c.11-1G>T;ENST00000583637:exon5:c.41-1G>T;ENST00000578532:exon4:c.41-1G>T;ENST00000583036:exon5:c.41-1G>T;ENST00000580387:exon4:c.41-1G>T;ENST00000578528:exon4:c.41-1G>T)	.	.	0.999966996458791	0.816
18	47017816	C	G	18	49491446	y	y	splicing	RPL17(NM_000985:exon4:c.41-1G>C;NM_001199344:exon4:c.41-1G>C;NM_001199343:exon5:c.41-1G>C;NM_001035006:exon4:c.41-1G>C;NM_001199341:exon4:c.41-1G>C;NM_001199340:exon5:c.41-1G>C;NM_001199342:exon5:c.41-1G>C);RPL17-C18orf32(NM_001199355:exon3:c.41-1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.41-1G>C;ENST00000577910:exon3:c.41-1G>C);ENSG00000265681(ENST00000580261:exon4:c.41-1G>C;ENST00000579248:exon4:c.41-1G>C;ENST00000579408:exon3:c.41-1G>C;ENST00000418495:exon4:c.41-1G>C;ENST00000580210:exon3:c.11-1G>C;ENST00000583637:exon5:c.41-1G>C;ENST00000578532:exon4:c.41-1G>C;ENST00000583036:exon5:c.41-1G>C;ENST00000580387:exon4:c.41-1G>C;ENST00000578528:exon4:c.41-1G>C)	.	.	0.999982408027741	0.798
18	47017816	C	T	18	49491446	y	y	splicing	RPL17(NM_000985:exon4:c.41-1G>A;NM_001199344:exon4:c.41-1G>A;NM_001199343:exon5:c.41-1G>A;NM_001035006:exon4:c.41-1G>A;NM_001199341:exon4:c.41-1G>A;NM_001199340:exon5:c.41-1G>A;NM_001199342:exon5:c.41-1G>A);RPL17-C18orf32(NM_001199355:exon3:c.41-1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.41-1G>A;ENST00000577910:exon3:c.41-1G>A);ENSG00000265681(ENST00000580261:exon4:c.41-1G>A;ENST00000579248:exon4:c.41-1G>A;ENST00000579408:exon3:c.41-1G>A;ENST00000418495:exon4:c.41-1G>A;ENST00000580210:exon3:c.11-1G>A;ENST00000583637:exon5:c.41-1G>A;ENST00000578532:exon4:c.41-1G>A;ENST00000583036:exon5:c.41-1G>A;ENST00000580387:exon4:c.41-1G>A;ENST00000578528:exon4:c.41-1G>A)	.	.	0.999966996458791	0.824
18	47017817	T	A	18	49491447	y	y	splicing	RPL17(NM_000985:exon4:c.41-2A>T;NM_001199344:exon4:c.41-2A>T;NM_001199343:exon5:c.41-2A>T;NM_001035006:exon4:c.41-2A>T;NM_001199341:exon4:c.41-2A>T;NM_001199340:exon5:c.41-2A>T;NM_001199342:exon5:c.41-2A>T);RPL17-C18orf32(NM_001199355:exon3:c.41-2A>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.41-2A>T;ENST00000577910:exon3:c.41-2A>T);ENSG00000265681(ENST00000580261:exon4:c.41-2A>T;ENST00000579248:exon4:c.41-2A>T;ENST00000579408:exon3:c.41-2A>T;ENST00000418495:exon4:c.41-2A>T;ENST00000580210:exon3:c.11-2A>T;ENST00000583637:exon5:c.41-2A>T;ENST00000578532:exon4:c.41-2A>T;ENST00000583036:exon5:c.41-2A>T;ENST00000580387:exon4:c.41-2A>T;ENST00000578528:exon4:c.41-2A>T)	.	.	0.999970890420065	0.85
18	47017817	T	C	18	49491447	y	y	splicing	RPL17(NM_000985:exon4:c.41-2A>G;NM_001199344:exon4:c.41-2A>G;NM_001199343:exon5:c.41-2A>G;NM_001035006:exon4:c.41-2A>G;NM_001199341:exon4:c.41-2A>G;NM_001199340:exon5:c.41-2A>G;NM_001199342:exon5:c.41-2A>G);RPL17-C18orf32(NM_001199355:exon3:c.41-2A>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.41-2A>G;ENST00000577910:exon3:c.41-2A>G);ENSG00000265681(ENST00000580261:exon4:c.41-2A>G;ENST00000579248:exon4:c.41-2A>G;ENST00000579408:exon3:c.41-2A>G;ENST00000418495:exon4:c.41-2A>G;ENST00000580210:exon3:c.11-2A>G;ENST00000583637:exon5:c.41-2A>G;ENST00000578532:exon4:c.41-2A>G;ENST00000583036:exon5:c.41-2A>G;ENST00000580387:exon4:c.41-2A>G;ENST00000578528:exon4:c.41-2A>G)	.	.	0.999970890420065	0.814
18	47017817	T	G	18	49491447	y	y	splicing	RPL17(NM_000985:exon4:c.41-2A>C;NM_001199344:exon4:c.41-2A>C;NM_001199343:exon5:c.41-2A>C;NM_001035006:exon4:c.41-2A>C;NM_001199341:exon4:c.41-2A>C;NM_001199340:exon5:c.41-2A>C;NM_001199342:exon5:c.41-2A>C);RPL17-C18orf32(NM_001199355:exon3:c.41-2A>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon3:c.41-2A>C;ENST00000577910:exon3:c.41-2A>C);ENSG00000265681(ENST00000580261:exon4:c.41-2A>C;ENST00000579248:exon4:c.41-2A>C;ENST00000579408:exon3:c.41-2A>C;ENST00000418495:exon4:c.41-2A>C;ENST00000580210:exon3:c.11-2A>C;ENST00000583637:exon5:c.41-2A>C;ENST00000578532:exon4:c.41-2A>C;ENST00000583036:exon5:c.41-2A>C;ENST00000580387:exon4:c.41-2A>C;ENST00000578528:exon4:c.41-2A>C)	.	.	0.999970890420065	0.814
18	47017818	A	C	18	49491448	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.188492690886738	0.476
18	47017818	A	G	18	49491448	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.25564335568164E-4	0.002
18	47017818	A	T	18	49491448	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00249330752974058	0.158
18	47017819	G	A	18	49491449	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.23125793484465E-5	0.002
18	47017819	G	C	18	49491449	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.96890682426181E-5	0.006
18	47017819	G	T	18	49491449	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.44450999953429E-5	0.002
18	47017820	A	C	18	49491450	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.866667693672424	0.624
18	47017820	A	G	18	49491450	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00724167588360055	0.252
18	47017820	A	T	18	49491450	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.715937165114489	0.61
18	47017821	A	C	18	49491451	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.346063344576547	0.472
18	47017821	A	G	18	49491451	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.9788769717567E-4	0.034
18	47017821	A	T	18	49491451	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.305170004100324	0.478
18	47017822	A	C	18	49491452	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00202129289486069	0.102
18	47017822	A	G	18	49491452	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.82556102668011E-4	0.006
18	47017822	A	T	18	49491452	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00348314082987297	0.112
18	47017823	A	C	18	49491453	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.999885275405087	0.998
18	47017823	A	G	18	49491453	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.16358986208456E-4	0.044
18	47017823	A	T	18	49491453	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0101294081976704	0.18
18	47017824	T	A	18	49491454	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.87489304739036E-5	0.006
18	47017824	T	C	18	49491454	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.7505854718466E-5	0.0
18	47017824	T	G	18	49491454	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	1.02436979694916E-5	0.0
18	47017825	A	C	18	49491455	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0365560182804093	0.298
18	47017825	A	G	18	49491455	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00840086930482542	0.182
18	47017825	A	T	18	49491455	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0817252998737851	0.364
18	47017826	A	C	18	49491456	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00936908795022867	0.284
18	47017826	A	G	18	49491456	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.89366538287435E-4	0.098
18	47017826	A	T	18	49491456	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.0685064266551226	0.362
18	47017827	A	C	18	49491457	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00500617818140181	0.224
18	47017827	A	G	18	49491457	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	6.72770521239103E-4	0.084
18	47017827	A	T	18	49491457	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.00426341620558403	0.21
18	47017894	C	A	18	49491524	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.30477579161392E-5	0.002
18	47017894	C	G	18	49491524	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	3.30477579161392E-5	0.002
18	47017894	C	T	18	49491524	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	5.68216876595996E-5	0.002
18	47017895	C	A	18	49491525	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.33031128748069E-5	0.118
18	47017895	C	G	18	49491525	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	8.13904928092719E-5	0.106
18	47017895	C	T	18	49491525	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	9.01274365853784E-5	0.12
18	47017896	A	C	18	49491526	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.526465522773042	0.466
18	47017896	A	G	18	49491526	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.865379280879327	0.562
18	47017896	A	T	18	49491526	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.860707520557547	0.546
18	47017897	C	A	18	49491527	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.999913027341229	0.916
18	47017897	C	G	18	49491527	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.977225903402111	0.752
18	47017897	C	T	18	49491527	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.999098613388173	0.95
18	47017898	T	A	18	49491528	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.968905989082143	0.718
18	47017898	T	C	18	49491528	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.994817210017523	0.74
18	47017898	T	G	18	49491528	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.954404334028991	0.63
18	47017899	T	A	18	49491529	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.995134195700487	0.574
18	47017899	T	C	18	49491529	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	2.68507344683201E-4	0.006
18	47017899	T	G	18	49491529	y	y	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_intronic	ENSG00000265496	.	.	0.995233240311526	0.654
18	47017900	A	C	18	49491530	y	y	splicing	RPL17(NM_000985:exon3:c.40+2T>G;NM_001199344:exon3:c.40+2T>G;NM_001199343:exon4:c.40+2T>G;NM_001035006:exon3:c.40+2T>G;NM_001199341:exon3:c.40+2T>G;NM_001199340:exon4:c.40+2T>G;NM_001199342:exon4:c.40+2T>G);RPL17-C18orf32(NM_001199355:exon2:c.40+2T>G)	.	.	splicing	ENSG00000215472(ENST00000584895:exon2:c.40+2T>G;ENST00000577910:exon2:c.40+2T>G);ENSG00000265681(ENST00000580261:exon3:c.40+2T>G;ENST00000579248:exon3:c.40+2T>G;ENST00000579408:exon2:c.40+2T>G;ENST00000418495:exon3:c.40+2T>G;ENST00000583637:exon4:c.40+2T>G;ENST00000578532:exon3:c.40+2T>G;ENST00000583036:exon4:c.40+2T>G;ENST00000580387:exon3:c.40+2T>G;ENST00000578528:exon3:c.40+2T>G)	.	.	0.999946188727699	0.934
18	47017900	A	G	18	49491530	y	y	splicing	RPL17(NM_000985:exon3:c.40+2T>C;NM_001199344:exon3:c.40+2T>C;NM_001199343:exon4:c.40+2T>C;NM_001035006:exon3:c.40+2T>C;NM_001199341:exon3:c.40+2T>C;NM_001199340:exon4:c.40+2T>C;NM_001199342:exon4:c.40+2T>C);RPL17-C18orf32(NM_001199355:exon2:c.40+2T>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon2:c.40+2T>C;ENST00000577910:exon2:c.40+2T>C);ENSG00000265681(ENST00000580261:exon3:c.40+2T>C;ENST00000579248:exon3:c.40+2T>C;ENST00000579408:exon2:c.40+2T>C;ENST00000418495:exon3:c.40+2T>C;ENST00000583637:exon4:c.40+2T>C;ENST00000578532:exon3:c.40+2T>C;ENST00000583036:exon4:c.40+2T>C;ENST00000580387:exon3:c.40+2T>C;ENST00000578528:exon3:c.40+2T>C)	.	.	0.965449737545375	0.626
18	47017900	A	T	18	49491530	y	y	splicing	RPL17(NM_000985:exon3:c.40+2T>A;NM_001199344:exon3:c.40+2T>A;NM_001199343:exon4:c.40+2T>A;NM_001035006:exon3:c.40+2T>A;NM_001199341:exon3:c.40+2T>A;NM_001199340:exon4:c.40+2T>A;NM_001199342:exon4:c.40+2T>A);RPL17-C18orf32(NM_001199355:exon2:c.40+2T>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon2:c.40+2T>A;ENST00000577910:exon2:c.40+2T>A);ENSG00000265681(ENST00000580261:exon3:c.40+2T>A;ENST00000579248:exon3:c.40+2T>A;ENST00000579408:exon2:c.40+2T>A;ENST00000418495:exon3:c.40+2T>A;ENST00000583637:exon4:c.40+2T>A;ENST00000578532:exon3:c.40+2T>A;ENST00000583036:exon4:c.40+2T>A;ENST00000580387:exon3:c.40+2T>A;ENST00000578528:exon3:c.40+2T>A)	.	.	0.999946188727699	0.94
18	47017901	C	A	18	49491531	y	y	splicing	RPL17(NM_000985:exon3:c.40+1G>T;NM_001199344:exon3:c.40+1G>T;NM_001199343:exon4:c.40+1G>T;NM_001035006:exon3:c.40+1G>T;NM_001199341:exon3:c.40+1G>T;NM_001199340:exon4:c.40+1G>T;NM_001199342:exon4:c.40+1G>T);RPL17-C18orf32(NM_001199355:exon2:c.40+1G>T)	.	.	splicing	ENSG00000215472(ENST00000584895:exon2:c.40+1G>T;ENST00000577910:exon2:c.40+1G>T);ENSG00000265681(ENST00000580261:exon3:c.40+1G>T;ENST00000579248:exon3:c.40+1G>T;ENST00000579408:exon2:c.40+1G>T;ENST00000418495:exon3:c.40+1G>T;ENST00000583637:exon4:c.40+1G>T;ENST00000578532:exon3:c.40+1G>T;ENST00000583036:exon4:c.40+1G>T;ENST00000580387:exon3:c.40+1G>T;ENST00000578528:exon3:c.40+1G>T)	.	.	0.999938990645747	0.946
18	47017901	C	G	18	49491531	y	y	splicing	RPL17(NM_000985:exon3:c.40+1G>C;NM_001199344:exon3:c.40+1G>C;NM_001199343:exon4:c.40+1G>C;NM_001035006:exon3:c.40+1G>C;NM_001199341:exon3:c.40+1G>C;NM_001199340:exon4:c.40+1G>C;NM_001199342:exon4:c.40+1G>C);RPL17-C18orf32(NM_001199355:exon2:c.40+1G>C)	.	.	splicing	ENSG00000215472(ENST00000584895:exon2:c.40+1G>C;ENST00000577910:exon2:c.40+1G>C);ENSG00000265681(ENST00000580261:exon3:c.40+1G>C;ENST00000579248:exon3:c.40+1G>C;ENST00000579408:exon2:c.40+1G>C;ENST00000418495:exon3:c.40+1G>C;ENST00000583637:exon4:c.40+1G>C;ENST00000578532:exon3:c.40+1G>C;ENST00000583036:exon4:c.40+1G>C;ENST00000580387:exon3:c.40+1G>C;ENST00000578528:exon3:c.40+1G>C)	.	.	0.999938990645747	0.944
18	47017901	C	T	18	49491531	y	y	splicing	RPL17(NM_000985:exon3:c.40+1G>A;NM_001199344:exon3:c.40+1G>A;NM_001199343:exon4:c.40+1G>A;NM_001035006:exon3:c.40+1G>A;NM_001199341:exon3:c.40+1G>A;NM_001199340:exon4:c.40+1G>A;NM_001199342:exon4:c.40+1G>A);RPL17-C18orf32(NM_001199355:exon2:c.40+1G>A)	.	.	splicing	ENSG00000215472(ENST00000584895:exon2:c.40+1G>A;ENST00000577910:exon2:c.40+1G>A);ENSG00000265681(ENST00000580261:exon3:c.40+1G>A;ENST00000579248:exon3:c.40+1G>A;ENST00000579408:exon2:c.40+1G>A;ENST00000418495:exon3:c.40+1G>A;ENST00000583637:exon4:c.40+1G>A;ENST00000578532:exon3:c.40+1G>A;ENST00000583036:exon4:c.40+1G>A;ENST00000580387:exon3:c.40+1G>A;ENST00000578528:exon3:c.40+1G>A)	.	.	0.999938990645747	0.946
18	47017902	A	C	18	49491532	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon3:c.T40G:p.S14A;RPL17:NM_001199341:exon2:c.T40G:p.S14A;RPL17:NM_001199342:exon3:c.T40G:p.S14A;RPL17:NM_000985:exon2:c.T40G:p.S14A;RPL17:NM_001199343:exon3:c.T40G:p.S14A;RPL17:NM_001035006:exon2:c.T40G:p.S14A;RPL17:NM_001199344:exon2:c.T40G:p.S14A;RPL17-C18orf32:NM_001199355:exon1:c.T40G:p.S14A;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.T40G:p.S14A;ENSG00000215472:ENST00000584895:exon1:c.T40G:p.S14A;ENSG00000265681:ENST00000418495:exon2:c.T40G:p.S14A;ENSG00000215472:ENST00000577910:exon1:c.T40G:p.S14A;ENSG00000265681:ENST00000580261:exon2:c.T40G:p.S14A;ENSG00000265681:ENST00000583637:exon3:c.T40G:p.S14A;ENSG00000265681:ENST00000578528:exon2:c.T40G:p.S14A;ENSG00000265681:ENST00000583036:exon3:c.T40G:p.S14A;ENSG00000265681:ENST00000580387:exon2:c.T40G:p.S14A;ENSG00000265681:ENST00000579248:exon2:c.T40G:p.S14A;ENSG00000265681:ENST00000579408:exon1:c.T40G:p.S14A;	0.01472866260083	0.186
18	47017902	A	G	18	49491532	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon3:c.T40C:p.S14P;RPL17:NM_001199341:exon2:c.T40C:p.S14P;RPL17:NM_001199342:exon3:c.T40C:p.S14P;RPL17:NM_000985:exon2:c.T40C:p.S14P;RPL17:NM_001199343:exon3:c.T40C:p.S14P;RPL17:NM_001035006:exon2:c.T40C:p.S14P;RPL17:NM_001199344:exon2:c.T40C:p.S14P;RPL17-C18orf32:NM_001199355:exon1:c.T40C:p.S14P;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.T40C:p.S14P;ENSG00000215472:ENST00000584895:exon1:c.T40C:p.S14P;ENSG00000265681:ENST00000418495:exon2:c.T40C:p.S14P;ENSG00000215472:ENST00000577910:exon1:c.T40C:p.S14P;ENSG00000265681:ENST00000580261:exon2:c.T40C:p.S14P;ENSG00000265681:ENST00000583637:exon3:c.T40C:p.S14P;ENSG00000265681:ENST00000578528:exon2:c.T40C:p.S14P;ENSG00000265681:ENST00000583036:exon3:c.T40C:p.S14P;ENSG00000265681:ENST00000580387:exon2:c.T40C:p.S14P;ENSG00000265681:ENST00000579248:exon2:c.T40C:p.S14P;ENSG00000265681:ENST00000579408:exon1:c.T40C:p.S14P;	0.779529195869154	0.788
18	47017902	A	T	18	49491532	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon3:c.T40A:p.S14T;RPL17:NM_001199341:exon2:c.T40A:p.S14T;RPL17:NM_001199342:exon3:c.T40A:p.S14T;RPL17:NM_000985:exon2:c.T40A:p.S14T;RPL17:NM_001199343:exon3:c.T40A:p.S14T;RPL17:NM_001035006:exon2:c.T40A:p.S14T;RPL17:NM_001199344:exon2:c.T40A:p.S14T;RPL17-C18orf32:NM_001199355:exon1:c.T40A:p.S14T;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.T40A:p.S14T;ENSG00000215472:ENST00000584895:exon1:c.T40A:p.S14T;ENSG00000265681:ENST00000418495:exon2:c.T40A:p.S14T;ENSG00000215472:ENST00000577910:exon1:c.T40A:p.S14T;ENSG00000265681:ENST00000580261:exon2:c.T40A:p.S14T;ENSG00000265681:ENST00000583637:exon3:c.T40A:p.S14T;ENSG00000265681:ENST00000578528:exon2:c.T40A:p.S14T;ENSG00000265681:ENST00000583036:exon3:c.T40A:p.S14T;ENSG00000265681:ENST00000580387:exon2:c.T40A:p.S14T;ENSG00000265681:ENST00000579248:exon2:c.T40A:p.S14T;ENSG00000265681:ENST00000579408:exon1:c.T40A:p.S14T;	0.10036491972587	0.476
18	47017903	T	A	18	49491533	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon3:c.A39T:p.K13N;RPL17:NM_001199341:exon2:c.A39T:p.K13N;RPL17:NM_001199342:exon3:c.A39T:p.K13N;RPL17:NM_000985:exon2:c.A39T:p.K13N;RPL17:NM_001199343:exon3:c.A39T:p.K13N;RPL17:NM_001035006:exon2:c.A39T:p.K13N;RPL17:NM_001199344:exon2:c.A39T:p.K13N;RPL17-C18orf32:NM_001199355:exon1:c.A39T:p.K13N;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.A39T:p.K13N;ENSG00000215472:ENST00000584895:exon1:c.A39T:p.K13N;ENSG00000265681:ENST00000418495:exon2:c.A39T:p.K13N;ENSG00000215472:ENST00000577910:exon1:c.A39T:p.K13N;ENSG00000265681:ENST00000580261:exon2:c.A39T:p.K13N;ENSG00000265681:ENST00000583637:exon3:c.A39T:p.K13N;ENSG00000265681:ENST00000578528:exon2:c.A39T:p.K13N;ENSG00000265681:ENST00000583036:exon3:c.A39T:p.K13N;ENSG00000265681:ENST00000580387:exon2:c.A39T:p.K13N;ENSG00000265681:ENST00000579248:exon2:c.A39T:p.K13N;ENSG00000265681:ENST00000579408:exon1:c.A39T:p.K13N;	0.284530776039459	0.506
18	47017903	T	C	18	49491533	y	y	exonic	RPL17;RPL17-C18orf32	synonymous SNV	RPL17:NM_001199340:exon3:c.A39G:p.K13K;RPL17:NM_001199341:exon2:c.A39G:p.K13K;RPL17:NM_001199342:exon3:c.A39G:p.K13K;RPL17:NM_000985:exon2:c.A39G:p.K13K;RPL17:NM_001199343:exon3:c.A39G:p.K13K;RPL17:NM_001035006:exon2:c.A39G:p.K13K;RPL17:NM_001199344:exon2:c.A39G:p.K13K;RPL17-C18orf32:NM_001199355:exon1:c.A39G:p.K13K;	exonic	ENSG00000215472;ENSG00000265681	synonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.A39G:p.K13K;ENSG00000215472:ENST00000584895:exon1:c.A39G:p.K13K;ENSG00000265681:ENST00000418495:exon2:c.A39G:p.K13K;ENSG00000215472:ENST00000577910:exon1:c.A39G:p.K13K;ENSG00000265681:ENST00000580261:exon2:c.A39G:p.K13K;ENSG00000265681:ENST00000583637:exon3:c.A39G:p.K13K;ENSG00000265681:ENST00000578528:exon2:c.A39G:p.K13K;ENSG00000265681:ENST00000583036:exon3:c.A39G:p.K13K;ENSG00000265681:ENST00000580387:exon2:c.A39G:p.K13K;ENSG00000265681:ENST00000579248:exon2:c.A39G:p.K13K;ENSG00000265681:ENST00000579408:exon1:c.A39G:p.K13K;	0.0100385008600387	0.264
18	47017903	T	G	18	49491533	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon3:c.A39C:p.K13N;RPL17:NM_001199341:exon2:c.A39C:p.K13N;RPL17:NM_001199342:exon3:c.A39C:p.K13N;RPL17:NM_000985:exon2:c.A39C:p.K13N;RPL17:NM_001199343:exon3:c.A39C:p.K13N;RPL17:NM_001035006:exon2:c.A39C:p.K13N;RPL17:NM_001199344:exon2:c.A39C:p.K13N;RPL17-C18orf32:NM_001199355:exon1:c.A39C:p.K13N;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.A39C:p.K13N;ENSG00000215472:ENST00000584895:exon1:c.A39C:p.K13N;ENSG00000265681:ENST00000418495:exon2:c.A39C:p.K13N;ENSG00000215472:ENST00000577910:exon1:c.A39C:p.K13N;ENSG00000265681:ENST00000580261:exon2:c.A39C:p.K13N;ENSG00000265681:ENST00000583637:exon3:c.A39C:p.K13N;ENSG00000265681:ENST00000578528:exon2:c.A39C:p.K13N;ENSG00000265681:ENST00000583036:exon3:c.A39C:p.K13N;ENSG00000265681:ENST00000580387:exon2:c.A39C:p.K13N;ENSG00000265681:ENST00000579248:exon2:c.A39C:p.K13N;ENSG00000265681:ENST00000579408:exon1:c.A39C:p.K13N;	0.129382873448081	0.464
18	47017904	T	A	18	49491534	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon3:c.A38T:p.K13I;RPL17:NM_001199341:exon2:c.A38T:p.K13I;RPL17:NM_001199342:exon3:c.A38T:p.K13I;RPL17:NM_000985:exon2:c.A38T:p.K13I;RPL17:NM_001199343:exon3:c.A38T:p.K13I;RPL17:NM_001035006:exon2:c.A38T:p.K13I;RPL17:NM_001199344:exon2:c.A38T:p.K13I;RPL17-C18orf32:NM_001199355:exon1:c.A38T:p.K13I;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.A38T:p.K13I;ENSG00000215472:ENST00000584895:exon1:c.A38T:p.K13I;ENSG00000265681:ENST00000418495:exon2:c.A38T:p.K13I;ENSG00000215472:ENST00000577910:exon1:c.A38T:p.K13I;ENSG00000265681:ENST00000580261:exon2:c.A38T:p.K13I;ENSG00000265681:ENST00000583637:exon3:c.A38T:p.K13I;ENSG00000265681:ENST00000578528:exon2:c.A38T:p.K13I;ENSG00000265681:ENST00000583036:exon3:c.A38T:p.K13I;ENSG00000265681:ENST00000580387:exon2:c.A38T:p.K13I;ENSG00000265681:ENST00000579248:exon2:c.A38T:p.K13I;ENSG00000265681:ENST00000579408:exon1:c.A38T:p.K13I;	0.960757338646648	0.592
18	47017904	T	C	18	49491534	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon3:c.A38G:p.K13R;RPL17:NM_001199341:exon2:c.A38G:p.K13R;RPL17:NM_001199342:exon3:c.A38G:p.K13R;RPL17:NM_000985:exon2:c.A38G:p.K13R;RPL17:NM_001199343:exon3:c.A38G:p.K13R;RPL17:NM_001035006:exon2:c.A38G:p.K13R;RPL17:NM_001199344:exon2:c.A38G:p.K13R;RPL17-C18orf32:NM_001199355:exon1:c.A38G:p.K13R;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.A38G:p.K13R;ENSG00000215472:ENST00000584895:exon1:c.A38G:p.K13R;ENSG00000265681:ENST00000418495:exon2:c.A38G:p.K13R;ENSG00000215472:ENST00000577910:exon1:c.A38G:p.K13R;ENSG00000265681:ENST00000580261:exon2:c.A38G:p.K13R;ENSG00000265681:ENST00000583637:exon3:c.A38G:p.K13R;ENSG00000265681:ENST00000578528:exon2:c.A38G:p.K13R;ENSG00000265681:ENST00000583036:exon3:c.A38G:p.K13R;ENSG00000265681:ENST00000580387:exon2:c.A38G:p.K13R;ENSG00000265681:ENST00000579248:exon2:c.A38G:p.K13R;ENSG00000265681:ENST00000579408:exon1:c.A38G:p.K13R;	0.143186402623401	0.456
18	47017904	T	G	18	49491534	y	y	exonic	RPL17;RPL17-C18orf32	nonsynonymous SNV	RPL17:NM_001199340:exon3:c.A38C:p.K13T;RPL17:NM_001199341:exon2:c.A38C:p.K13T;RPL17:NM_001199342:exon3:c.A38C:p.K13T;RPL17:NM_000985:exon2:c.A38C:p.K13T;RPL17:NM_001199343:exon3:c.A38C:p.K13T;RPL17:NM_001035006:exon2:c.A38C:p.K13T;RPL17:NM_001199344:exon2:c.A38C:p.K13T;RPL17-C18orf32:NM_001199355:exon1:c.A38C:p.K13T;	exonic	ENSG00000215472;ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000578532:exon2:c.A38C:p.K13T;ENSG00000215472:ENST00000584895:exon1:c.A38C:p.K13T;ENSG00000265681:ENST00000418495:exon2:c.A38C:p.K13T;ENSG00000215472:ENST00000577910:exon1:c.A38C:p.K13T;ENSG00000265681:ENST00000580261:exon2:c.A38C:p.K13T;ENSG00000265681:ENST00000583637:exon3:c.A38C:p.K13T;ENSG00000265681:ENST00000578528:exon2:c.A38C:p.K13T;ENSG00000265681:ENST00000583036:exon3:c.A38C:p.K13T;ENSG00000265681:ENST00000580387:exon2:c.A38C:p.K13T;ENSG00000265681:ENST00000579248:exon2:c.A38C:p.K13T;ENSG00000265681:ENST00000579408:exon1:c.A38C:p.K13T;	0.595241231656726	0.508
18	47017953	A	C	18	49491583	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	ncRNA_UTR5	ENSG00000215472;ENSG00000265681	.	.	0.00281365765567342	0.014
18	47017953	A	G	18	49491583	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	ncRNA_UTR5	ENSG00000215472;ENSG00000265681	.	.	0.00281365765567342	0.014
18	47017953	A	T	18	49491583	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	ncRNA_UTR5	ENSG00000215472;ENSG00000265681	.	.	0.00493089128035242	0.012
18	47017954	C	A	18	49491584	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	ncRNA_UTR5	ENSG00000215472;ENSG00000265681	.	.	0.00242233139899248	0.028
18	47017954	C	G	18	49491584	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	ncRNA_UTR5	ENSG00000215472;ENSG00000265681	.	.	0.00242233139899248	0.032
18	47017954	C	T	18	49491584	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	ncRNA_UTR5	ENSG00000215472;ENSG00000265681	.	.	0.00242233139899248	0.026
18	47017955	C	A	18	49491585	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	3.7526228276428E-4	0.002
18	47017955	C	G	18	49491585	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	3.7526228276428E-4	0.002
18	47017955	C	T	18	49491585	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	3.7526228276428E-4	0.002
18	47017956	T	A	18	49491586	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	0.00104620212631682	0.016
18	47017956	T	C	18	49491586	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	5.64161068940201E-4	0.016
18	47017956	T	G	18	49491586	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	5.64161068940201E-4	0.016
18	47017957	A	C	18	49491587	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	8.11877380238232E-5	0.0
18	47017957	A	G	18	49491587	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	8.11877380238232E-5	0.0
18	47017957	A	T	18	49491587	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	3.70118225477976E-5	0.0
18	47017958	G	A	18	49491588	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.02337758398172E-4	0.0
18	47017958	G	C	18	49491588	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.02337758398172E-4	0.0
18	47017958	G	T	18	49491588	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.02337758398172E-4	0.0
18	47017959	A	C	18	49491589	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.68256441675417E-5	0.0
18	47017959	A	G	18	49491589	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.68256441675417E-5	0.0
18	47017959	A	T	18	49491589	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.77576363752898E-5	0.008
18	47017960	G	A	18	49491590	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.34523131410215E-4	0.066
18	47017960	G	C	18	49491590	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	9.35987365828918E-5	0.066
18	47017960	G	T	18	49491590	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	9.35987365828918E-5	0.066
18	47017961	G	A	18	49491591	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	3.69930370103191E-5	0.002
18	47017961	G	C	18	49491591	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	3.69930370103191E-5	0.002
18	47017961	G	T	18	49491591	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	3.69930370103191E-5	0.006
18	47017962	A	C	18	49491592	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.64677722929178E-5	0.004
18	47017962	A	G	18	49491592	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.64677722929178E-5	0.004
18	47017962	A	T	18	49491592	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.64677722929178E-5	0.004
18	47017963	A	C	18	49491593	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.48293208623238E-5	0.0
18	47017963	A	G	18	49491593	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.48293208623238E-5	0.0
18	47017963	A	T	18	49491593	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.48293208623238E-5	0.0
18	47017964	A	C	18	49491594	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	3.09395893123295E-5	0.002
18	47017964	A	G	18	49491594	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	3.09395893123295E-5	0.002
18	47017964	A	T	18	49491594	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	8.30297025138908E-5	0.002
18	47017965	G	A	18	49491595	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.89210916601576E-5	0.002
18	47017965	G	C	18	49491595	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.89210916601576E-5	0.002
18	47017965	G	T	18	49491595	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.89210916601576E-5	0.002
18	47017966	T	A	18	49491596	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	8.3500733371869E-5	0.0
18	47017966	T	C	18	49491596	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	8.3500733371869E-5	0.0
18	47017966	T	G	18	49491596	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	8.3500733371869E-5	0.0
18	47017988	G	A	18	49491618	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.04278140930798E-5	0.038
18	47017988	G	C	18	49491618	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.38113264713725E-5	0.04
18	47017988	G	T	18	49491618	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.38113264713725E-5	0.038
18	47017989	T	A	18	49491619	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	3.72644098080992E-5	0.002
18	47017989	T	C	18	49491619	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	8.60578370355274E-6	0.0
18	47017989	T	G	18	49491619	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	8.60578370355274E-6	0.0
18	47017990	A	C	18	49491620	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	2.44723860357282E-4	0.004
18	47017990	A	G	18	49491620	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	2.44723860357282E-4	0.016
18	47017990	A	T	18	49491620	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.71464925181669E-4	0.006
18	47017991	C	A	18	49491621	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	2.25524929795369E-5	0.002
18	47017991	C	G	18	49491621	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	2.25524929795369E-5	0.002
18	47017991	C	T	18	49491621	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	2.25524929795369E-5	0.002
18	47017992	T	A	18	49491622	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	4.19523722086209E-5	0.0
18	47017992	T	C	18	49491622	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.62500938860321E-5	0.0
18	47017992	T	G	18	49491622	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.62500938860321E-5	0.002
18	47017993	T	A	18	49491623	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	5.16682635439002E-5	0.0
18	47017993	T	C	18	49491623	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	5.16682635439002E-5	0.0
18	47017993	T	G	18	49491623	n	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	5.16682635439002E-5	0.0
18	47017994	A	C	18	49491624	n	y	UTR5	RPL17	.	.	splicing	ENSG00000265681(ENST00000580210:exon2:c.10+2T>G)	.	.	2.82827935381688E-5	0.002
18	47017994	A	G	18	49491624	n	y	UTR5	RPL17	.	.	splicing	ENSG00000265681(ENST00000580210:exon2:c.10+2T>C)	.	.	2.82827935381688E-5	0.002
18	47017994	A	T	18	49491624	n	y	UTR5	RPL17	.	.	splicing	ENSG00000265681(ENST00000580210:exon2:c.10+2T>A)	.	.	2.93008933363103E-5	0.0
18	47017995	C	A	18	49491625	n	y	UTR5	RPL17	.	.	splicing	ENSG00000265681(ENST00000580210:exon2:c.10+1G>T)	.	.	2.12967705479703E-5	0.004
18	47017995	C	G	18	49491625	n	y	UTR5	RPL17	.	.	splicing	ENSG00000265681(ENST00000580210:exon2:c.10+1G>C)	.	.	2.12967705479703E-5	0.002
18	47017995	C	T	18	49491625	n	y	UTR5	RPL17	.	.	splicing	ENSG00000265681(ENST00000580210:exon2:c.10+1G>A)	.	.	3.951189346585E-5	0.002
18	47017996	A	C	18	49491626	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000580210:exon1:c.T10G:p.S4A;	2.1766481184988E-4	0.004
18	47017996	A	G	18	49491626	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000580210:exon1:c.T10C:p.S4P;	2.1766481184988E-4	0.006
18	47017996	A	T	18	49491626	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000580210:exon1:c.T10A:p.S4T;	2.1766481184988E-4	0.018
18	47017997	G	A	18	49491627	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	synonymous SNV	ENSG00000265681:ENST00000580210:exon1:c.C9T:p.Y3Y;	7.01315188657279E-5	0.0
18	47017997	G	C	18	49491627	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	stopgain SNV	ENSG00000265681:ENST00000580210:exon1:c.C9G:p.Y3X;	6.73120992464439E-5	0.088
18	47017997	G	T	18	49491627	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	stopgain SNV	ENSG00000265681:ENST00000580210:exon1:c.C9A:p.Y3X;	6.73120992464439E-5	0.11
18	47017998	T	A	18	49491628	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000580210:exon1:c.A8T:p.Y3F;	1.37543681404772E-4	0.082
18	47017998	T	C	18	49491628	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000580210:exon1:c.A8G:p.Y3C;	8.29477781110252E-5	0.0
18	47017998	T	G	18	49491628	n	y	UTR5	RPL17	.	.	exonic	ENSG00000265681	nonsynonymous SNV	ENSG00000265681:ENST00000580210:exon1:c.A8C:p.Y3S;	9.48881452637442E-5	0.004
18	47018098	A	C	18	49491728	y	y	ncRNA_exonic	SNORD58B	.	.	ncRNA_exonic	ENSG00000271982	.	.	0.0314834231671871	0.158
18	47018098	A	G	18	49491728	y	y	ncRNA_exonic	SNORD58B	.	.	ncRNA_exonic	ENSG00000271982	.	.	0.0314834231671871	0.158
18	47018098	A	T	18	49491728	y	y	ncRNA_exonic	SNORD58B	.	.	ncRNA_exonic	ENSG00000271982	.	.	0.0408845047853352	0.168
18	47018099	G	A	18	49491729	y	y	ncRNA_exonic	SNORD58B	.	.	ncRNA_exonic	ENSG00000271982	.	.	0.976656978115406	0.872
18	47018099	G	C	18	49491729	y	y	ncRNA_exonic	SNORD58B	.	.	ncRNA_exonic	ENSG00000271982	.	.	0.960668988587981	0.764
18	47018099	G	T	18	49491729	y	y	ncRNA_exonic	SNORD58B	.	.	ncRNA_exonic	ENSG00000271982	.	.	0.972710711965371	0.834
18	47018100	C	A	18	49491730	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	0.147816770657232	0.28
18	47018100	C	G	18	49491730	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	0.084895807965715	0.216
18	47018100	C	T	18	49491730	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	0.758443691625042	0.43
18	47018101	C	A	18	49491731	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.41231753311375E-4	0.002
18	47018101	C	G	18	49491731	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.11968350887203E-4	0.004
18	47018101	C	T	18	49491731	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.41231753311375E-4	0.002
18	47018102	A	C	18	49491732	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.65164625162413E-4	0.002
18	47018102	A	G	18	49491732	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.65164625162413E-4	0.006
18	47018102	A	T	18	49491732	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.50353606863553E-4	0.0
18	47018103	T	A	18	49491733	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.92390250865315E-5	0.0
18	47018103	T	C	18	49491733	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.33596820440618E-5	0.0
18	47018103	T	G	18	49491733	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.33596820440618E-5	0.0
18	47018104	A	C	18	49491734	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	8.49702646665041E-5	0.006
18	47018104	A	G	18	49491734	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	8.49702646665041E-5	0.006
18	47018104	A	T	18	49491734	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	6.35428655471156E-5	0.004
18	47018105	C	A	18	49491735	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	1.05918261028706E-4	0.0
18	47018105	C	G	18	49491735	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	1.05918261028706E-4	0.0
18	47018105	C	T	18	49491735	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	1.05918261028706E-4	0.0
18	47018106	T	A	18	49491736	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.01315188657279E-5	0.002
18	47018106	T	C	18	49491736	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.01315188657279E-5	0.002
18	47018106	T	G	18	49491736	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	7.01315188657279E-5	0.002
18	47018107	T	A	18	49491737	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	6.19053194304606E-5	0.0
18	47018107	T	C	18	49491737	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	9.05214370486973E-5	0.002
18	47018107	T	G	18	49491737	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	9.05214370486973E-5	0.004
18	47018108	T	A	18	49491738	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.12581597765867E-4	0.0
18	47018108	T	C	18	49491738	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.12581597765867E-4	0.0
18	47018108	T	G	18	49491738	y	y	UTR5	RPL17	.	.	ncRNA_UTR5	ENSG00000265681	.	.	1.12581597765867E-4	0.0
18	47018202	C	A	18	49491832	y	n	UTR5	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	5.77483172991291E-5	0.0
18	47018202	C	G	18	49491832	y	n	UTR5	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	8.52841767195802E-5	0.0
18	47018202	C	T	18	49491832	y	n	UTR5	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	5.55862927766097E-5	0.0
18	47018203	C	A	18	49491833	y	n	UTR5	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.251158076123182	0.482
18	47018203	C	G	18	49491833	y	n	UTR5	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.00162878495075839	0.234
18	47018203	C	T	18	49491833	y	n	UTR5	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.0130589382966481	0.122
18	47018204	C	A	18	49491834	y	n	splicing	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.999948452327987	0.682
18	47018204	C	G	18	49491834	y	n	splicing	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.999952989192995	0.682
18	47018204	C	T	18	49491834	y	n	splicing	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.999948452327987	0.684
18	47018205	T	A	18	49491835	y	n	splicing	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.999772623253837	0.732
18	47018205	T	C	18	49491835	y	n	splicing	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.999772623253837	0.734
18	47018205	T	G	18	49491835	y	n	splicing	RPL17	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.999772623253837	0.734
18	47018206	T	A	18	49491836	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	7.33596820440618E-5	0.004
18	47018206	T	C	18	49491836	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.129044983548504	0.424
18	47018206	T	G	18	49491836	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	8.95121603156414E-5	0.028
18	47018207	T	A	18	49491837	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	2.07066999970006E-4	0.002
18	47018207	T	C	18	49491837	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	3.26286907227142E-4	0.002
18	47018207	T	G	18	49491837	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	6.88087911956902E-5	0.006
18	47018208	G	A	18	49491838	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	1.09419025658121E-4	0.006
18	47018208	G	C	18	49491838	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.0249096827859082	0.33
18	47018208	G	T	18	49491838	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	6.12305935382733E-4	0.11
18	47018209	G	A	18	49491839	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	4.59772515467766E-5	0.002
18	47018209	G	C	18	49491839	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.00148880412732828	0.172
18	47018209	G	T	18	49491839	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.00148880412732828	0.174
18	47018210	A	C	18	49491840	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.00339452228807967	0.098
18	47018210	A	G	18	49491840	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	1.31166482281926E-4	0.026
18	47018210	A	T	18	49491840	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.00339452228807967	0.1
18	47018211	A	C	18	49491841	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	3.25845330659101E-4	0.058
18	47018211	A	G	18	49491841	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	5.25211152755068E-5	0.0
18	47018211	A	T	18	49491841	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	4.28130446400926E-4	0.164
18	47018212	G	A	18	49491842	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	4.93748849143325E-5	0.002
18	47018212	G	C	18	49491842	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	2.2070739700835E-4	0.032
18	47018212	G	T	18	49491842	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	1.73846228354468E-4	0.042
18	47018213	A	C	18	49491843	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	6.59854710752201E-4	0.04
18	47018213	A	G	18	49491843	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	2.85031207114831E-4	0.028
18	47018213	A	T	18	49491843	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.00126749062894873	0.098
18	47018214	A	C	18	49491844	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.0021424341264529	0.196
18	47018214	A	G	18	49491844	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	8.14180574413805E-4	0.076
18	47018214	A	T	18	49491844	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	0.00124956191587119	0.158
18	47018215	A	C	18	49491845	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	7.38386350633564E-4	0.032
18	47018215	A	G	18	49491845	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	2.99441120991734E-4	0.014
18	47018215	A	T	18	49491845	y	n	intronic	RPL17;RPL17-C18orf32	.	.	ncRNA_exonic	ENSG00000265496	.	.	5.1129162576794E-4	0.06
18	47018493	C	A	18	49492123	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	1.74371319567002E-4	0.0
18	47018493	C	G	18	49492123	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	1.74371319567002E-4	0.002
18	47018493	C	T	18	49492123	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	1.22170087570582E-4	0.004
18	47018494	C	A	18	49492124	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	4.77185116990374E-4	0.044
18	47018494	C	G	18	49492124	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	4.77185116990374E-4	0.038
18	47018494	C	T	18	49492124	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	4.32922031494327E-4	0.036
18	47018495	A	C	18	49492125	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	1.82254846753964E-4	0.002
18	47018495	A	G	18	49492125	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	1.82254846753964E-4	0.002
18	47018495	A	T	18	49492125	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	1.64857229448119E-4	0.002
18	47018496	C	A	18	49492126	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	0.076563763692755	0.22
18	47018496	C	G	18	49492126	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	0.0501010916027844	0.196
18	47018496	C	T	18	49492126	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	0.421575862709801	0.322
18	47018497	T	A	18	49492127	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	2.39252134329056E-4	0.01
18	47018497	T	C	18	49492127	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	2.16629277331759E-4	0.032
18	47018497	T	G	18	49492127	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	2.39252134329056E-4	0.064
18	47018498	C	A	18	49492128	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	5.48563339434839E-4	0.046
18	47018498	C	G	18	49492128	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	5.54327009440287E-4	0.032
18	47018498	C	T	18	49492128	n	y	intronic	RPL17;RPL17-C18orf32	.	.	intronic	ENSG00000265681	.	.	5.48563339434839E-4	0.032
18	47018499	A	C	18	49492129	n	y	intronic	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	1.15324817755151E-4	0.012
18	47018499	A	G	18	49492129	n	y	intronic	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	1.15324817755151E-4	0.012
18	47018499	A	T	18	49492129	n	y	intronic	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	1.73156701739785E-4	0.014
18	47018500	C	A	18	49492130	n	y	intronic	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	1.52882124750724E-4	0.024
18	47018500	C	G	18	49492130	n	y	intronic	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	2.18203232015174E-4	0.008
18	47018500	C	T	18	49492130	n	y	intronic	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	2.09230202059545E-4	0.014
18	47018501	C	A	18	49492131	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	0.0013048471438668	0.102
18	47018501	C	G	18	49492131	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	8.82125018522097E-4	0.096
18	47018501	C	T	18	49492131	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	0.0013048471438668	0.102
18	47018502	A	C	18	49492132	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	2.35675552638404E-4	0.008
18	47018502	A	G	18	49492132	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	2.35675552638404E-4	0.008
18	47018502	A	T	18	49492132	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.65124812342858E-4	0.012
18	47018503	C	A	18	49492133	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.09404615887614E-4	0.004
18	47018503	C	G	18	49492133	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	7.77576363752898E-5	0.0
18	47018503	C	T	18	49492133	n	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.47610205509752E-4	0.008
18	47018620	C	A	18	49492250	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.51591174045998E-4	0.008
18	47018620	C	G	18	49492250	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.00961143325455E-4	0.008
18	47018620	C	T	18	49492250	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.51591174045998E-4	0.004
18	47018621	T	A	18	49492251	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	9.39083642728588E-5	0.0
18	47018621	T	C	18	49492251	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	9.39083642728588E-5	0.0
18	47018621	T	G	18	49492251	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	9.39083642728588E-5	0.0
18	47018622	G	A	18	49492252	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.2194139863653E-4	0.0
18	47018622	G	C	18	49492252	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	7.18924664478357E-5	0.0
18	47018622	G	T	18	49492252	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	9.42334554293701E-5	0.0
18	47018623	C	A	18	49492253	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	2.93008933363103E-5	0.002
18	47018623	C	G	18	49492253	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	2.93008933363103E-5	0.002
18	47018623	C	T	18	49492253	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	2.93008933363103E-5	0.002
18	47018624	G	A	18	49492254	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.02337758398172E-4	0.006
18	47018624	G	C	18	49492254	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	9.27237026149931E-5	0.006
18	47018624	G	T	18	49492254	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.02337758398172E-4	0.006
18	47018625	G	A	18	49492255	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	5.99825872905116E-5	0.004
18	47018625	G	C	18	49492255	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	5.15494709416875E-5	0.0
18	47018625	G	T	18	49492255	y	y	intronic	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	5.15494709416875E-5	0.0
18	47018626	A	C	18	49492256	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	5.69439264402225E-5	0.002
18	47018626	A	G	18	49492256	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	5.69439264402225E-5	0.002
18	47018626	A	T	18	49492256	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	5.69439264402225E-5	0.002
18	47018627	C	A	18	49492257	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	6.552751562108E-5	0.004
18	47018627	C	G	18	49492257	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	6.552751562108E-5	0.004
18	47018627	C	T	18	49492257	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	6.552751562108E-5	0.006
18	47018628	C	A	18	49492258	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	2.94615721382208E-5	0.0
18	47018628	C	G	18	49492258	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	2.36681691224865E-5	0.0
18	47018628	C	T	18	49492258	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	2.94615721382208E-5	0.0
18	47018629	T	A	18	49492259	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	9.90792379341904E-5	0.028
18	47018629	T	C	18	49492259	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	8.18429645671592E-5	0.0
18	47018629	T	G	18	49492259	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	8.18429645671592E-5	0.0
18	47018630	C	A	18	49492260	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	6.00237884990209E-5	0.002
18	47018630	C	G	18	49492260	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	6.00237884990209E-5	0.002
18	47018630	C	T	18	49492260	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	6.00237884990209E-5	0.002
18	47018637	C	A	18	49492267	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	1.40053381145528E-4	0.004
18	47018637	C	G	18	49492267	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	1.40053381145528E-4	0.006
18	47018637	C	T	18	49492267	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	1.8703588275862E-4	0.006
18	47018638	G	A	18	49492268	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	4.37367921756301E-5	0.0
18	47018638	G	C	18	49492268	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	2.98377523420214E-5	0.0
18	47018638	G	T	18	49492268	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	2.98377523420214E-5	0.0
18	47018639	A	C	18	49492269	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.57130297994047E-5	0.0
18	47018639	A	G	18	49492269	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.57130297994047E-5	0.0
18	47018639	A	T	18	49492269	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	8.29559784397415E-5	0.0
18	47018640	C	A	18	49492270	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.52521099548755E-5	0.0
18	47018640	C	G	18	49492270	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.52521099548755E-5	0.0
18	47018640	C	T	18	49492270	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.52521099548755E-5	0.0
18	47018641	T	A	18	49492271	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	3.82035599739421E-5	0.002
18	47018641	T	C	18	49492271	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	3.82035599739421E-5	0.0
18	47018641	T	G	18	49492271	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	3.82035599739421E-5	0.0
18	47018642	G	A	18	49492272	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	6.27477746119029E-5	0.0
18	47018642	G	C	18	49492272	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.31689052743192E-5	0.0
18	47018642	G	T	18	49492272	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	6.27477746119029E-5	0.0
18	47018643	A	C	18	49492273	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	2.4746191741039E-5	0.0
18	47018643	A	G	18	49492273	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	2.4746191741039E-5	0.0
18	47018643	A	T	18	49492273	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	2.4746191741039E-5	0.0
18	47018644	C	A	18	49492274	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	4.92739414047098E-5	0.002
18	47018644	C	G	18	49492274	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	4.92739414047098E-5	0.004
18	47018644	C	T	18	49492274	y	y	splicing	RPL17	.	.	splicing	ENSG00000265681	.	.	4.92739414047098E-5	0.002
18	47018645	C	A	18	49492275	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.69439264402225E-5	0.0
18	47018645	C	G	18	49492275	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.69439264402225E-5	0.0
18	47018645	C	T	18	49492275	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	5.69439264402225E-5	0.0
18	47018646	C	A	18	49492276	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	8.06173808797179E-5	0.002
18	47018646	C	G	18	49492276	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	8.06173808797179E-5	0.002
18	47018646	C	T	18	49492276	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	8.06173808797179E-5	0.002
18	47018647	C	A	18	49492277	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	8.18429645671592E-5	0.0
18	47018647	C	G	18	49492277	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	8.18429645671592E-5	0.0
18	47018647	C	T	18	49492277	y	y	UTR5	RPL17	.	.	UTR5	ENSG00000265681	.	.	9.90792379341904E-5	0.002
18	47018820	A	C	18	49492450	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	8.95145951409719E-5	0.002
18	47018820	A	G	18	49492450	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	7.01315188657279E-5	0.002
18	47018820	A	T	18	49492450	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	7.01315188657279E-5	0.002
18	47018821	C	A	18	49492451	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	1.51591174045998E-4	0.016
18	47018821	C	G	18	49492451	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	3.55232293977891E-4	0.008
18	47018821	C	T	18	49492451	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	3.59796617572027E-4	0.004
18	47018822	A	C	18	49492452	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.0990583220235706	0.318
18	47018822	A	G	18	49492452	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.0231539712568484	0.268
18	47018822	A	T	18	49492452	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.317126832302469	0.53
18	47018823	C	A	18	49492453	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.999774926637283	0.876
18	47018823	C	G	18	49492453	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.999848591086673	0.88
18	47018823	C	T	18	49492453	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.999738696766631	0.942
18	47018824	T	A	18	49492454	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.91870438327615	0.618
18	47018824	T	C	18	49492454	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.93980064837965	0.69
18	47018824	T	G	18	49492454	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.344679657057533	0.252
18	47018825	C	A	18	49492455	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.699896204851781	0.61
18	47018825	C	G	18	49492455	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.847509701537247	0.642
18	47018825	C	T	18	49492455	y	y	UTR5	RPL17	.	.	intronic	ENSG00000265681	.	.	0.00364554359801952	0.032
18	47018826	A	C	18	49492456	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	0.99992617752697	0.93
18	47018826	A	G	18	49492456	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	0.99983265709029	0.888
18	47018826	A	T	18	49492456	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	0.999939583170295	0.932
18	47018827	C	A	18	49492457	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	0.999949496871441	0.934
18	47018827	C	G	18	49492457	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	0.999949496871441	0.942
18	47018827	C	T	18	49492457	y	y	splicing	RPL17;RPL17-C18orf32	.	.	splicing	ENSG00000265681	.	.	0.999949496871441	0.932
18	47018828	C	A	18	49492458	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	0.989265343462325	0.882
18	47018828	C	G	18	49492458	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	0.992338301929755	0.736
18	47018828	C	T	18	49492458	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	0.995690744951673	0.784
18	47018829	T	A	18	49492459	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	0.789143254342111	0.674
18	47018829	T	C	18	49492459	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	0.852671506765951	0.596
18	47018829	T	G	18	49492459	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	0.154960429581561	0.548
18	47018830	C	A	18	49492460	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.32526463397443E-4	0.004
18	47018830	C	G	18	49492460	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	7.18924664478357E-5	0.0
18	47018830	C	T	18	49492460	y	y	UTR5	RPL17;RPL17-C18orf32	.	.	UTR5	ENSG00000265681	.	.	1.2194139863653E-4	0.0
18	47087828	C	A	18	49561458	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	7.48293208623238E-5	0.0
18	47087828	C	G	18	49561458	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	7.48293208623238E-5	0.0
18	47087828	C	T	18	49561458	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	7.48293208623238E-5	0.0
18	47087829	A	C	18	49561459	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.09960321947569E-4	0.0
18	47087829	A	G	18	49561459	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.09960321947569E-4	0.0
18	47087829	A	T	18	49561459	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.80018259252686E-4	0.002
18	47087830	G	A	18	49561460	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	7.74088084155096E-5	0.014
18	47087830	G	C	18	49561460	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.09069125317345E-4	0.012
18	47087830	G	T	18	49561460	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.44101454748109E-4	0.008
18	47087831	G	A	18	49561461	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670	.	.	1.07902708129146E-4	0.028
18	47087831	G	C	18	49561461	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670	.	.	6.5908222467397E-5	0.004
18	47087831	G	T	18	49561461	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670	.	.	6.5908222467397E-5	0.004
18	47087832	T	A	18	49561462	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670	.	.	4.90028566392549E-5	0.0
18	47087832	T	C	18	49561462	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670	.	.	4.90028566392549E-5	0.002
18	47087832	T	G	18	49561462	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670	.	.	4.90028566392549E-5	0.002
18	47087833	A	C	18	49561463	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	8.81175133602322E-5	0.002
18	47087833	A	G	18	49561463	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	8.81175133602322E-5	0.002
18	47087833	A	T	18	49561463	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.2227767809889E-4	0.002
18	47087834	C	A	18	49561464	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	8.30945796578933E-5	0.0
18	47087834	C	G	18	49561464	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	8.30945796578933E-5	0.0
18	47087834	C	T	18	49561464	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	8.30945796578933E-5	0.0
18	47087835	T	A	18	49561465	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	2.18821402882975E-4	0.02
18	47087835	T	C	18	49561465	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	2.36392262465523E-4	0.014
18	47087835	T	G	18	49561465	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	3.12307223864952E-4	0.024
18	47087836	G	A	18	49561466	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.1861903910912E-4	0.062
18	47087836	G	C	18	49561466	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	6.84650287766538E-5	0.062
18	47087836	G	T	18	49561466	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	7.96651861799852E-5	0.062
18	47087837	T	A	18	49561467	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.12581597765867E-4	0.0
18	47087837	T	C	18	49561467	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	4.19523722086209E-5	0.0
18	47087837	T	G	18	49561467	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	5.58227232382387E-5	0.0
18	47087838	G	A	18	49561468	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.07902708129146E-4	0.006
18	47087838	G	C	18	49561468	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	6.5908222467397E-5	0.006
18	47087838	G	T	18	49561468	n	y	upstream	LIPG	.	.	UTR5	ENSG00000101670	.	.	1.07902708129146E-4	0.008
18	47088258	G	A	18	49561888	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.G203A:p.R68H;	3.60161052456833E-4	0.096
18	47088258	G	C	18	49561888	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.G203C:p.R68P;	1.38443781042626E-4	0.094
18	47088258	G	T	18	49561888	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.G203T:p.R68L;	3.60161052456833E-4	0.096
18	47088259	C	A	18	49561889	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.C204A:p.R68R;	5.86590924201456E-5	0.0
18	47088259	C	G	18	49561889	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.C204G:p.R68R;	5.86590924201456E-5	0.0
18	47088259	C	T	18	49561889	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.C204T:p.R68R;	6.47413882681639E-5	0.0
18	47088260	G	A	18	49561890	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.G205A:p.D69N;	9.20771208607684E-5	0.012
18	47088260	G	C	18	49561890	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.G205C:p.D69H;	3.80326084273412E-5	0.008
18	47088260	G	T	18	49561890	n	y	upstream	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon1:c.G205T:p.D69Y;	3.80326084273412E-5	0.008
18	47088261	G	A	18	49561891	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670(ENST00000577628:exon1:c.205+1G>A)	.	.	4.22811490596864E-5	0.008
18	47088261	G	C	18	49561891	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670(ENST00000577628:exon1:c.205+1G>C)	.	.	2.27894185937647E-5	0.008
18	47088261	G	T	18	49561891	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670(ENST00000577628:exon1:c.205+1G>T)	.	.	4.22811490596864E-5	0.008
18	47088262	T	A	18	49561892	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670(ENST00000577628:exon1:c.205+2T>A)	.	.	2.12967705479703E-5	0.004
18	47088262	T	C	18	49561892	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670(ENST00000577628:exon1:c.205+2T>C)	.	.	2.12967705479703E-5	0.002
18	47088262	T	G	18	49561892	n	y	upstream	LIPG	.	.	splicing	ENSG00000101670(ENST00000577628:exon1:c.205+2T>G)	.	.	2.12967705479703E-5	0.002
18	47088263	G	A	18	49561893	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0123696162114533	0.04
18	47088263	G	C	18	49561893	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00856653316777073	0.042
18	47088263	G	T	18	49561893	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0123696162114533	0.042
18	47088264	A	C	18	49561894	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	1.3213116829089E-4	0.0
18	47088264	A	G	18	49561894	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	1.3213116829089E-4	0.0
18	47088264	A	T	18	49561894	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	1.85903796297875E-4	0.002
18	47088265	G	A	18	49561895	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	3.39568914603945E-4	0.086
18	47088265	G	C	18	49561895	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	1.7599604327224E-4	0.098
18	47088265	G	T	18	49561895	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	2.64872600006483E-4	0.088
18	47088266	T	A	18	49561896	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	2.93008933363103E-5	0.002
18	47088266	T	C	18	49561896	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	2.93008933363103E-5	0.002
18	47088266	T	G	18	49561896	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	2.93008933363103E-5	0.002
18	47088267	G	A	18	49561897	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00165246715192003	0.014
18	47088267	G	C	18	49561897	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00167961607711839	0.016
18	47088267	G	T	18	49561897	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00165246715192003	0.014
18	47088268	T	A	18	49561898	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	1.52922651786387E-4	0.002
18	47088268	T	C	18	49561898	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	1.09080089480832E-4	0.002
18	47088268	T	G	18	49561898	n	y	upstream	LIPG	.	.	intronic	ENSG00000101670	.	.	1.09080089480832E-4	0.002
18	47088773	A	C	18	49562403	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon1:c.A95C:p.E32A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.A59C:p.E20A;ENSG00000101670:ENST00000580036:exon1:c.A95C:p.E32A;ENSG00000101670:ENST00000261292:exon1:c.A95C:p.E32A;ENSG00000101670:ENST00000427224:exon1:c.A95C:p.E32A;	2.32996716763982E-5	0.0
18	47088773	A	G	18	49562403	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon1:c.A95G:p.E32G;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.A59G:p.E20G;ENSG00000101670:ENST00000580036:exon1:c.A95G:p.E32G;ENSG00000101670:ENST00000261292:exon1:c.A95G:p.E32G;ENSG00000101670:ENST00000427224:exon1:c.A95G:p.E32G;	9.71841909820336E-4	0.06
18	47088773	A	T	18	49562403	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon1:c.A95T:p.E32V;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.A59T:p.E20V;ENSG00000101670:ENST00000580036:exon1:c.A95T:p.E32V;ENSG00000101670:ENST00000261292:exon1:c.A95T:p.E32V;ENSG00000101670:ENST00000427224:exon1:c.A95T:p.E32V;	0.0155636301998307	0.274
18	47088774	A	C	18	49562404	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon1:c.A96C:p.E32D;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.A60C:p.E20D;ENSG00000101670:ENST00000580036:exon1:c.A96C:p.E32D;ENSG00000101670:ENST00000261292:exon1:c.A96C:p.E32D;ENSG00000101670:ENST00000427224:exon1:c.A96C:p.E32D;	0.963020667915711	0.73
18	47088774	A	G	18	49562404	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon1:c.A96G:p.E32E;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.A60G:p.E20E;ENSG00000101670:ENST00000580036:exon1:c.A96G:p.E32E;ENSG00000101670:ENST00000261292:exon1:c.A96G:p.E32E;ENSG00000101670:ENST00000427224:exon1:c.A96G:p.E32E;	0.992596238317148	0.934
18	47088774	A	T	18	49562404	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon1:c.A96T:p.E32D;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.A60T:p.E20D;ENSG00000101670:ENST00000580036:exon1:c.A96T:p.E32D;ENSG00000101670:ENST00000261292:exon1:c.A96T:p.E32D;ENSG00000101670:ENST00000427224:exon1:c.A96T:p.E32D;	0.993309705600359	0.706
18	47088775	G	A	18	49562405	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon1:c.G97A:p.D33N;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.G61A:p.D21N;ENSG00000101670:ENST00000580036:exon1:c.G97A:p.D33N;ENSG00000101670:ENST00000261292:exon1:c.G97A:p.D33N;ENSG00000101670:ENST00000427224:exon1:c.G97A:p.D33N;	0.99993453553576	0.994
18	47088775	G	C	18	49562405	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon1:c.G97C:p.D33H;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.G61C:p.D21H;ENSG00000101670:ENST00000580036:exon1:c.G97C:p.D33H;ENSG00000101670:ENST00000261292:exon1:c.G97C:p.D33H;ENSG00000101670:ENST00000427224:exon1:c.G97C:p.D33H;	0.99999142185352	0.998
18	47088775	G	T	18	49562405	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon1:c.G97T:p.D33Y;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon1:c.G61T:p.D21Y;ENSG00000101670:ENST00000580036:exon1:c.G97T:p.D33Y;ENSG00000101670:ENST00000261292:exon1:c.G97T:p.D33Y;ENSG00000101670:ENST00000427224:exon1:c.G97T:p.D33Y;	0.99995346955804	0.994
18	47088776	G	A	18	49562406	y	y	splicing	LIPG(NM_006033:exon1:c.97+1G>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon1:c.97+1G>A;ENST00000427224:exon1:c.97+1G>A;ENST00000580036:exon1:c.97+1G>A;ENST00000579750:exon1:c.61+1G>A)	.	.	0.999938990645747	0.956
18	47088776	G	C	18	49562406	y	y	splicing	LIPG(NM_006033:exon1:c.97+1G>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon1:c.97+1G>C;ENST00000427224:exon1:c.97+1G>C;ENST00000580036:exon1:c.97+1G>C;ENST00000579750:exon1:c.61+1G>C)	.	.	0.999938990645747	0.952
18	47088776	G	T	18	49562406	y	y	splicing	LIPG(NM_006033:exon1:c.97+1G>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon1:c.97+1G>T;ENST00000427224:exon1:c.97+1G>T;ENST00000580036:exon1:c.97+1G>T;ENST00000579750:exon1:c.61+1G>T)	.	.	0.999938990645747	0.954
18	47088777	T	A	18	49562407	y	y	splicing	LIPG(NM_006033:exon1:c.97+2T>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon1:c.97+2T>A;ENST00000427224:exon1:c.97+2T>A;ENST00000580036:exon1:c.97+2T>A;ENST00000579750:exon1:c.61+2T>A)	.	.	0.999946188727699	0.96
18	47088777	T	C	18	49562407	y	y	splicing	LIPG(NM_006033:exon1:c.97+2T>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon1:c.97+2T>C;ENST00000427224:exon1:c.97+2T>C;ENST00000580036:exon1:c.97+2T>C;ENST00000579750:exon1:c.61+2T>C)	.	.	0.957281456064751	0.614
18	47088777	T	G	18	49562407	y	y	splicing	LIPG(NM_006033:exon1:c.97+2T>G)	.	.	splicing	ENSG00000101670(ENST00000261292:exon1:c.97+2T>G;ENST00000427224:exon1:c.97+2T>G;ENST00000580036:exon1:c.97+2T>G;ENST00000579750:exon1:c.61+2T>G)	.	.	0.999946188727699	0.958
18	47088778	A	C	18	49562408	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999921503533544	0.932
18	47088778	A	G	18	49562408	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.97822607404275	0.868
18	47088778	A	T	18	49562408	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999932908155222	0.988
18	47088779	A	C	18	49562409	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.102396622746507	0.286
18	47088779	A	G	18	49562409	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.767547634276727	0.484
18	47088779	A	T	18	49562409	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.677602055977363	0.416
18	47088780	C	A	18	49562410	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.5960326564221E-5	0.016
18	47088780	C	G	18	49562410	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.00160624018735E-4	0.06
18	47088780	C	T	18	49562410	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00114798640987728	0.108
18	47088781	G	A	18	49562411	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0091853513425865	0.152
18	47088781	G	C	18	49562411	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0122562072520888	0.164
18	47088781	G	T	18	49562411	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00101238343851163	0.076
18	47088782	T	A	18	49562412	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00145802168016967	0.01
18	47088782	T	C	18	49562412	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00144244998024615	0.034
18	47088782	T	G	18	49562412	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00255842602264975	0.006
18	47088783	G	A	18	49562413	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00261701958749367	0.076
18	47088783	G	C	18	49562413	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00761426215177971	0.144
18	47088783	G	T	18	49562413	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00186267013990311	0.104
18	47091675	C	A	18	49565305	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.06021806658646E-4	0.032
18	47091675	C	G	18	49565305	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.50266435518062E-4	0.01
18	47091675	C	T	18	49565305	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.90998303420855E-5	0.002
18	47091676	T	A	18	49565306	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.99931540783089	0.95
18	47091676	T	C	18	49565306	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.47660629962864E-4	0.066
18	47091676	T	G	18	49565306	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00116869797111566	0.174
18	47091677	G	A	18	49565307	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	9.78248642458275E-5	0.0
18	47091677	G	C	18	49565307	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.11027574467925E-5	0.0
18	47091677	G	T	18	49565307	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.04799102519692E-5	0.0
18	47091678	T	A	18	49565308	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00293281851297742	0.086
18	47091678	T	C	18	49565308	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.94671375797462E-4	0.006
18	47091678	T	G	18	49565308	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00597806372175013	0.108
18	47091679	C	A	18	49565309	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.1391006381726E-4	0.062
18	47091679	C	G	18	49565309	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.51329317054547E-4	0.076
18	47091679	C	T	18	49565309	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.5828470080296E-5	0.004
18	47091680	T	A	18	49565310	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.69596983850726E-4	0.042
18	47091680	T	C	18	49565310	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.16567553782988E-5	0.0
18	47091680	T	G	18	49565310	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.23126367863706E-4	0.036
18	47091681	C	A	18	49565311	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.02438971147253E-4	0.054
18	47091681	C	G	18	49565311	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.59733056609326E-4	0.094
18	47091681	C	T	18	49565311	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.4616763654017E-5	0.034
18	47091682	C	A	18	49565312	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.18942249755815E-4	0.016
18	47091682	C	G	18	49565312	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	9.85551955898132E-4	0.02
18	47091682	C	T	18	49565312	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.69818239339698E-5	0.0
18	47091683	C	A	18	49565313	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.51282644075956E-4	0.01
18	47091683	C	G	18	49565313	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.51282644075956E-4	0.01
18	47091683	C	T	18	49565313	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.17259668995807E-4	0.02
18	47091684	C	A	18	49565314	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.731635557017888	0.596
18	47091684	C	G	18	49565314	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999620067983397	0.954
18	47091684	C	T	18	49565314	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00161147302763808	0.09
18	47091685	A	C	18	49565315	y	y	splicing	LIPG(NM_006033:exon2:c.98-2A>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.206-2A>C;ENST00000261292:exon2:c.98-2A>C;ENST00000427224:exon2:c.98-2A>C;ENST00000580036:exon2:c.98-2A>C;ENST00000579750:exon2:c.62-2A>C)	.	.	0.999962958601995	0.8
18	47091685	A	G	18	49565315	y	y	splicing	LIPG(NM_006033:exon2:c.98-2A>G)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.206-2A>G;ENST00000261292:exon2:c.98-2A>G;ENST00000427224:exon2:c.98-2A>G;ENST00000580036:exon2:c.98-2A>G;ENST00000579750:exon2:c.62-2A>G)	.	.	0.999962958601995	0.798
18	47091685	A	T	18	49565315	y	y	splicing	LIPG(NM_006033:exon2:c.98-2A>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.206-2A>T;ENST00000261292:exon2:c.98-2A>T;ENST00000427224:exon2:c.98-2A>T;ENST00000580036:exon2:c.98-2A>T;ENST00000579750:exon2:c.62-2A>T)	.	.	0.999962958601995	0.834
18	47091686	G	A	18	49565316	y	y	splicing	LIPG(NM_006033:exon2:c.98-1G>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.206-1G>A;ENST00000261292:exon2:c.98-1G>A;ENST00000427224:exon2:c.98-1G>A;ENST00000580036:exon2:c.98-1G>A;ENST00000579750:exon2:c.62-1G>A)	.	.	0.999965661484771	0.864
18	47091686	G	C	18	49565316	y	y	splicing	LIPG(NM_006033:exon2:c.98-1G>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.206-1G>C;ENST00000261292:exon2:c.98-1G>C;ENST00000427224:exon2:c.98-1G>C;ENST00000580036:exon2:c.98-1G>C;ENST00000579750:exon2:c.62-1G>C)	.	.	0.999958003653399	0.82
18	47091686	G	T	18	49565316	y	y	splicing	LIPG(NM_006033:exon2:c.98-1G>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.206-1G>T;ENST00000261292:exon2:c.98-1G>T;ENST00000427224:exon2:c.98-1G>T;ENST00000580036:exon2:c.98-1G>T;ENST00000579750:exon2:c.62-1G>T)	.	.	0.999958003653399	0.854
18	47091687	A	C	18	49565317	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.A98C:p.D33A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.A62C:p.D21A;ENSG00000101670:ENST00000577628:exon2:c.A206C:p.D69A;ENSG00000101670:ENST00000580036:exon2:c.A98C:p.D33A;ENSG00000101670:ENST00000261292:exon2:c.A98C:p.D33A;ENSG00000101670:ENST00000427224:exon2:c.A98C:p.D33A;	6.95478548709621E-4	0.136
18	47091687	A	G	18	49565317	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.A98G:p.D33G;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.A62G:p.D21G;ENSG00000101670:ENST00000577628:exon2:c.A206G:p.D69G;ENSG00000101670:ENST00000580036:exon2:c.A98G:p.D33G;ENSG00000101670:ENST00000261292:exon2:c.A98G:p.D33G;ENSG00000101670:ENST00000427224:exon2:c.A98G:p.D33G;	6.49091890377082E-5	0.02
18	47091687	A	T	18	49565317	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.A98T:p.D33V;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.A62T:p.D21V;ENSG00000101670:ENST00000577628:exon2:c.A206T:p.D69V;ENSG00000101670:ENST00000580036:exon2:c.A98T:p.D33V;ENSG00000101670:ENST00000261292:exon2:c.A98T:p.D33V;ENSG00000101670:ENST00000427224:exon2:c.A98T:p.D33V;	4.21920695594161E-4	0.03
18	47091688	T	A	18	49565318	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.T99A:p.D33E;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.T63A:p.D21E;ENSG00000101670:ENST00000577628:exon2:c.T207A:p.D69E;ENSG00000101670:ENST00000580036:exon2:c.T99A:p.D33E;ENSG00000101670:ENST00000261292:exon2:c.T99A:p.D33E;ENSG00000101670:ENST00000427224:exon2:c.T99A:p.D33E;	0.00306970224028095	0.078
18	47091688	T	C	18	49565318	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon2:c.T99C:p.D33D;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.T63C:p.D21D;ENSG00000101670:ENST00000577628:exon2:c.T207C:p.D69D;ENSG00000101670:ENST00000580036:exon2:c.T99C:p.D33D;ENSG00000101670:ENST00000261292:exon2:c.T99C:p.D33D;ENSG00000101670:ENST00000427224:exon2:c.T99C:p.D33D;	0.00123065972492796	0.048
18	47091688	T	G	18	49565318	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.T99G:p.D33E;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.T63G:p.D21E;ENSG00000101670:ENST00000577628:exon2:c.T207G:p.D69E;ENSG00000101670:ENST00000580036:exon2:c.T99G:p.D33E;ENSG00000101670:ENST00000261292:exon2:c.T99G:p.D33E;ENSG00000101670:ENST00000427224:exon2:c.T99G:p.D33E;	0.00434486168744451	0.082
18	47091866	A	C	18	49565496	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.A277C:p.T93P;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.A241C:p.T81P;ENSG00000101670:ENST00000577628:exon2:c.A385C:p.T129P;ENSG00000101670:ENST00000583083:exon2:c.A37C:p.T13P;ENSG00000101670:ENST00000580036:exon2:c.A277C:p.T93P;ENSG00000101670:ENST00000261292:exon2:c.A277C:p.T93P;ENSG00000101670:ENST00000427224:exon2:c.A277C:p.T93P;	0.00278224226847243	0.078
18	47091866	A	G	18	49565496	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.A277G:p.T93A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.A241G:p.T81A;ENSG00000101670:ENST00000577628:exon2:c.A385G:p.T129A;ENSG00000101670:ENST00000583083:exon2:c.A37G:p.T13A;ENSG00000101670:ENST00000580036:exon2:c.A277G:p.T93A;ENSG00000101670:ENST00000261292:exon2:c.A277G:p.T93A;ENSG00000101670:ENST00000427224:exon2:c.A277G:p.T93A;	0.00626283415394194	0.154
18	47091866	A	T	18	49565496	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.A277T:p.T93S;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.A241T:p.T81S;ENSG00000101670:ENST00000577628:exon2:c.A385T:p.T129S;ENSG00000101670:ENST00000583083:exon2:c.A37T:p.T13S;ENSG00000101670:ENST00000580036:exon2:c.A277T:p.T93S;ENSG00000101670:ENST00000261292:exon2:c.A277T:p.T93S;ENSG00000101670:ENST00000427224:exon2:c.A277T:p.T93S;	0.0824184070348551	0.304
18	47091867	C	A	18	49565497	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.C278A:p.T93K;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.C242A:p.T81K;ENSG00000101670:ENST00000577628:exon2:c.C386A:p.T129K;ENSG00000101670:ENST00000583083:exon2:c.C38A:p.T13K;ENSG00000101670:ENST00000580036:exon2:c.C278A:p.T93K;ENSG00000101670:ENST00000261292:exon2:c.C278A:p.T93K;ENSG00000101670:ENST00000427224:exon2:c.C278A:p.T93K;	0.834392244406691	0.734
18	47091867	C	G	18	49565497	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.C278G:p.T93R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.C242G:p.T81R;ENSG00000101670:ENST00000577628:exon2:c.C386G:p.T129R;ENSG00000101670:ENST00000583083:exon2:c.C38G:p.T13R;ENSG00000101670:ENST00000580036:exon2:c.C278G:p.T93R;ENSG00000101670:ENST00000261292:exon2:c.C278G:p.T93R;ENSG00000101670:ENST00000427224:exon2:c.C278G:p.T93R;	0.960269393929429	0.724
18	47091867	C	T	18	49565497	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon2:c.C278T:p.T93M;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.C242T:p.T81M;ENSG00000101670:ENST00000577628:exon2:c.C386T:p.T129M;ENSG00000101670:ENST00000583083:exon2:c.C38T:p.T13M;ENSG00000101670:ENST00000580036:exon2:c.C278T:p.T93M;ENSG00000101670:ENST00000261292:exon2:c.C278T:p.T93M;ENSG00000101670:ENST00000427224:exon2:c.C278T:p.T93M;	0.975342227475035	0.756
18	47091868	G	A	18	49565498	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon2:c.G279A:p.T93T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.G243A:p.T81T;ENSG00000101670:ENST00000577628:exon2:c.G387A:p.T129T;ENSG00000101670:ENST00000583083:exon2:c.G39A:p.T13T;ENSG00000101670:ENST00000580036:exon2:c.G279A:p.T93T;ENSG00000101670:ENST00000261292:exon2:c.G279A:p.T93T;ENSG00000101670:ENST00000427224:exon2:c.G279A:p.T93T;	0.999219577134544	0.974
18	47091868	G	C	18	49565498	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon2:c.G279C:p.T93T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.G243C:p.T81T;ENSG00000101670:ENST00000577628:exon2:c.G387C:p.T129T;ENSG00000101670:ENST00000583083:exon2:c.G39C:p.T13T;ENSG00000101670:ENST00000580036:exon2:c.G279C:p.T93T;ENSG00000101670:ENST00000261292:exon2:c.G279C:p.T93T;ENSG00000101670:ENST00000427224:exon2:c.G279C:p.T93T;	0.999977468332285	0.96
18	47091868	G	T	18	49565498	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon2:c.G279T:p.T93T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon2:c.G243T:p.T81T;ENSG00000101670:ENST00000577628:exon2:c.G387T:p.T129T;ENSG00000101670:ENST00000583083:exon2:c.G39T:p.T13T;ENSG00000101670:ENST00000580036:exon2:c.G279T:p.T93T;ENSG00000101670:ENST00000261292:exon2:c.G279T:p.T93T;ENSG00000101670:ENST00000427224:exon2:c.G279T:p.T93T;	0.998607366464052	0.962
18	47091869	G	A	18	49565499	y	y	splicing	LIPG(NM_006033:exon2:c.279+1G>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.387+1G>A;ENST00000583083:exon2:c.39+1G>A;ENST00000261292:exon2:c.279+1G>A;ENST00000427224:exon2:c.279+1G>A;ENST00000580036:exon2:c.279+1G>A;ENST00000579750:exon2:c.243+1G>A)	.	.	0.999986675681007	0.934
18	47091869	G	C	18	49565499	y	y	splicing	LIPG(NM_006033:exon2:c.279+1G>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.387+1G>C;ENST00000583083:exon2:c.39+1G>C;ENST00000261292:exon2:c.279+1G>C;ENST00000427224:exon2:c.279+1G>C;ENST00000580036:exon2:c.279+1G>C;ENST00000579750:exon2:c.243+1G>C)	.	.	0.999986675681007	0.934
18	47091869	G	T	18	49565499	y	y	splicing	LIPG(NM_006033:exon2:c.279+1G>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.387+1G>T;ENST00000583083:exon2:c.39+1G>T;ENST00000261292:exon2:c.279+1G>T;ENST00000427224:exon2:c.279+1G>T;ENST00000580036:exon2:c.279+1G>T;ENST00000579750:exon2:c.243+1G>T)	.	.	0.999986675681007	0.934
18	47091870	T	A	18	49565500	y	y	splicing	LIPG(NM_006033:exon2:c.279+2T>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.387+2T>A;ENST00000583083:exon2:c.39+2T>A;ENST00000261292:exon2:c.279+2T>A;ENST00000427224:exon2:c.279+2T>A;ENST00000580036:exon2:c.279+2T>A;ENST00000579750:exon2:c.243+2T>A)	.	.	0.999989917668626	0.926
18	47091870	T	C	18	49565500	y	y	splicing	LIPG(NM_006033:exon2:c.279+2T>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.387+2T>C;ENST00000583083:exon2:c.39+2T>C;ENST00000261292:exon2:c.279+2T>C;ENST00000427224:exon2:c.279+2T>C;ENST00000580036:exon2:c.279+2T>C;ENST00000579750:exon2:c.243+2T>C)	.	.	0.999985870680488	0.944
18	47091870	T	G	18	49565500	y	y	splicing	LIPG(NM_006033:exon2:c.279+2T>G)	.	.	splicing	ENSG00000101670(ENST00000577628:exon2:c.387+2T>G;ENST00000583083:exon2:c.39+2T>G;ENST00000261292:exon2:c.279+2T>G;ENST00000427224:exon2:c.279+2T>G;ENST00000580036:exon2:c.279+2T>G;ENST00000579750:exon2:c.243+2T>G)	.	.	0.999989917668626	0.926
18	47091871	G	A	18	49565501	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00125955545435265	0.012
18	47091871	G	C	18	49565501	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.992687782699622	0.718
18	47091871	G	T	18	49565501	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.996721858637729	0.684
18	47091872	A	C	18	49565502	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.546855375073313	0.488
18	47091872	A	G	18	49565502	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.707710955123789	0.648
18	47091872	A	T	18	49565502	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.977216901849507	0.794
18	47091873	G	A	18	49565503	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999830571912122	0.938
18	47091873	G	C	18	49565503	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999787470203113	0.898
18	47091873	G	T	18	49565503	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999940546265697	0.988
18	47091874	C	A	18	49565504	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.7335575688885E-4	0.006
18	47091874	C	G	18	49565504	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.78501106248673E-4	0.034
18	47091874	C	T	18	49565504	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.54643395101636E-5	0.032
18	47091875	C	A	18	49565505	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.86749964211462E-5	0.0
18	47091875	C	G	18	49565505	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.16842688365329E-5	0.002
18	47091875	C	T	18	49565505	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.66034900852641E-5	0.002
18	47091876	C	A	18	49565506	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.57777195180576E-5	0.004
18	47091876	C	G	18	49565506	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.83178646010883E-5	0.008
18	47091876	C	T	18	49565506	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.41981792963615E-4	0.002
18	47093800	T	A	18	49567430	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.00573388261908E-4	0.146
18	47093800	T	C	18	49567430	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.36924773846214E-5	0.024
18	47093800	T	G	18	49567430	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.52449332648796E-4	0.1
18	47093801	T	A	18	49567431	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00345533317405753	0.26
18	47093801	T	C	18	49567431	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.84835636794593E-4	0.088
18	47093801	T	G	18	49567431	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.20776596116433E-4	0.182
18	47093802	T	A	18	49567432	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.95681321735708E-5	0.138
18	47093802	T	C	18	49567432	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.08814955201267E-5	0.014
18	47093802	T	G	18	49567432	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.24273932777157E-4	0.19
18	47093803	T	A	18	49567433	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.47655914426207E-4	0.216
18	47093803	T	C	18	49567433	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.54520749715269E-4	0.048
18	47093803	T	G	18	49567433	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.52290122929498E-4	0.198
18	47093804	C	A	18	49567434	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.13161539659557E-5	0.068
18	47093804	C	G	18	49567434	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.7798093350101E-5	0.058
18	47093804	C	T	18	49567434	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.66565604447542E-5	0.034
18	47093805	T	A	18	49567435	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.71403100898982E-4	0.064
18	47093805	T	C	18	49567435	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.83591328214657E-5	0.008
18	47093805	T	G	18	49567435	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.188729702755E-4	0.066
18	47093806	C	A	18	49567436	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.59094874758106E-4	0.084
18	47093806	C	G	18	49567436	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.48475011132369E-4	0.024
18	47093806	C	T	18	49567436	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.54547942889794E-5	0.0
18	47093807	T	A	18	49567437	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.982190249245275	0.712
18	47093807	T	C	18	49567437	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.4487157052974E-5	0.008
18	47093807	T	G	18	49567437	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0011395955448616	0.162
18	47093808	G	A	18	49567438	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.24278107514353E-5	0.022
18	47093808	G	C	18	49567438	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.54502377538869E-5	0.022
18	47093808	G	T	18	49567438	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.6131972674531E-5	0.028
18	47093809	C	A	18	49567439	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.523400657317474	0.58
18	47093809	C	G	18	49567439	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999789455054415	0.916
18	47093809	C	T	18	49567439	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.31333310619237E-4	0.222
18	47093810	A	C	18	49567440	y	y	splicing	LIPG(NM_006033:exon3:c.280-2A>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon3:c.388-2A>C;ENST00000583083:exon3:c.40-2A>C;ENST00000261292:exon3:c.280-2A>C;ENST00000427224:exon3:c.280-2A>C;ENST00000580036:exon3:c.280-2A>C;ENST00000579750:exon3:c.244-2A>C)	.	.	0.999972155025474	0.854
18	47093810	A	G	18	49567440	y	y	splicing	LIPG(NM_006033:exon3:c.280-2A>G)	.	.	splicing	ENSG00000101670(ENST00000577628:exon3:c.388-2A>G;ENST00000583083:exon3:c.40-2A>G;ENST00000261292:exon3:c.280-2A>G;ENST00000427224:exon3:c.280-2A>G;ENST00000580036:exon3:c.280-2A>G;ENST00000579750:exon3:c.244-2A>G)	.	.	0.999972155025474	0.854
18	47093810	A	T	18	49567440	y	y	splicing	LIPG(NM_006033:exon3:c.280-2A>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon3:c.388-2A>T;ENST00000583083:exon3:c.40-2A>T;ENST00000261292:exon3:c.280-2A>T;ENST00000427224:exon3:c.280-2A>T;ENST00000580036:exon3:c.280-2A>T;ENST00000579750:exon3:c.244-2A>T)	.	.	0.999982151912279	0.892
18	47093811	G	A	18	49567441	y	y	splicing	LIPG(NM_006033:exon3:c.280-1G>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon3:c.388-1G>A;ENST00000583083:exon3:c.40-1G>A;ENST00000261292:exon3:c.280-1G>A;ENST00000427224:exon3:c.280-1G>A;ENST00000580036:exon3:c.280-1G>A;ENST00000579750:exon3:c.244-1G>A)	.	.	0.99996748057446	0.906
18	47093811	G	C	18	49567441	y	y	splicing	LIPG(NM_006033:exon3:c.280-1G>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon3:c.388-1G>C;ENST00000583083:exon3:c.40-1G>C;ENST00000261292:exon3:c.280-1G>C;ENST00000427224:exon3:c.280-1G>C;ENST00000580036:exon3:c.280-1G>C;ENST00000579750:exon3:c.244-1G>C)	.	.	0.99996748057446	0.902
18	47093811	G	T	18	49567441	y	y	splicing	LIPG(NM_006033:exon3:c.280-1G>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon3:c.388-1G>T;ENST00000583083:exon3:c.40-1G>T;ENST00000261292:exon3:c.280-1G>T;ENST00000427224:exon3:c.280-1G>T;ENST00000580036:exon3:c.280-1G>T;ENST00000579750:exon3:c.244-1G>T)	.	.	0.99996748057446	0.906
18	47093812	A	C	18	49567442	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.A280C:p.M94L;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A244C:p.M82L;ENSG00000101670:ENST00000577628:exon3:c.A388C:p.M130L;ENSG00000101670:ENST00000583083:exon3:c.A40C:p.M14L;ENSG00000101670:ENST00000580036:exon3:c.A280C:p.M94L;ENSG00000101670:ENST00000261292:exon3:c.A280C:p.M94L;ENSG00000101670:ENST00000427224:exon3:c.A280C:p.M94L;	0.00495631456418938	0.062
18	47093812	A	G	18	49567442	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.A280G:p.M94V;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A244G:p.M82V;ENSG00000101670:ENST00000577628:exon3:c.A388G:p.M130V;ENSG00000101670:ENST00000583083:exon3:c.A40G:p.M14V;ENSG00000101670:ENST00000580036:exon3:c.A280G:p.M94V;ENSG00000101670:ENST00000261292:exon3:c.A280G:p.M94V;ENSG00000101670:ENST00000427224:exon3:c.A280G:p.M94V;	4.47211429629095E-5	0.012
18	47093812	A	T	18	49567442	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.A280T:p.M94L;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A244T:p.M82L;ENSG00000101670:ENST00000577628:exon3:c.A388T:p.M130L;ENSG00000101670:ENST00000583083:exon3:c.A40T:p.M14L;ENSG00000101670:ENST00000580036:exon3:c.A280T:p.M94L;ENSG00000101670:ENST00000261292:exon3:c.A280T:p.M94L;ENSG00000101670:ENST00000427224:exon3:c.A280T:p.M94L;	0.0103761767086472	0.142
18	47093813	T	A	18	49567443	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.T281A:p.M94K;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T245A:p.M82K;ENSG00000101670:ENST00000577628:exon3:c.T389A:p.M130K;ENSG00000101670:ENST00000583083:exon3:c.T41A:p.M14K;ENSG00000101670:ENST00000580036:exon3:c.T281A:p.M94K;ENSG00000101670:ENST00000261292:exon3:c.T281A:p.M94K;ENSG00000101670:ENST00000427224:exon3:c.T281A:p.M94K;	0.00518458876845958	0.038
18	47093813	T	C	18	49567443	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.T281C:p.M94T;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T245C:p.M82T;ENSG00000101670:ENST00000577628:exon3:c.T389C:p.M130T;ENSG00000101670:ENST00000583083:exon3:c.T41C:p.M14T;ENSG00000101670:ENST00000580036:exon3:c.T281C:p.M94T;ENSG00000101670:ENST00000261292:exon3:c.T281C:p.M94T;ENSG00000101670:ENST00000427224:exon3:c.T281C:p.M94T;	0.00135247950718156	0.02
18	47093813	T	G	18	49567443	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.T281G:p.M94R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T245G:p.M82R;ENSG00000101670:ENST00000577628:exon3:c.T389G:p.M130R;ENSG00000101670:ENST00000583083:exon3:c.T41G:p.M14R;ENSG00000101670:ENST00000580036:exon3:c.T281G:p.M94R;ENSG00000101670:ENST00000261292:exon3:c.T281G:p.M94R;ENSG00000101670:ENST00000427224:exon3:c.T281G:p.M94R;	0.00192722206445612	0.064
18	47093989	C	A	18	49567619	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.C457A:p.Q153K;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.C421A:p.Q141K;ENSG00000101670:ENST00000577628:exon3:c.C565A:p.Q189K;ENSG00000101670:ENST00000580036:exon3:c.C457A:p.Q153K;ENSG00000101670:ENST00000261292:exon3:c.C457A:p.Q153K;ENSG00000101670:ENST00000427224:exon3:c.C457A:p.Q153K;	0.891721834445478	0.706
18	47093989	C	G	18	49567619	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.C457G:p.Q153E;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.C421G:p.Q141E;ENSG00000101670:ENST00000577628:exon3:c.C565G:p.Q189E;ENSG00000101670:ENST00000580036:exon3:c.C457G:p.Q153E;ENSG00000101670:ENST00000261292:exon3:c.C457G:p.Q153E;ENSG00000101670:ENST00000427224:exon3:c.C457G:p.Q153E;	0.97306627553727	0.724
18	47093989	C	T	18	49567619	y	n	exonic	LIPG	stopgain SNV	LIPG:NM_006033:exon3:c.C457T:p.Q153X;	exonic	ENSG00000101670	stopgain SNV	ENSG00000101670:ENST00000579750:exon3:c.C421T:p.Q141X;ENSG00000101670:ENST00000577628:exon3:c.C565T:p.Q189X;ENSG00000101670:ENST00000580036:exon3:c.C457T:p.Q153X;ENSG00000101670:ENST00000261292:exon3:c.C457T:p.Q153X;ENSG00000101670:ENST00000427224:exon3:c.C457T:p.Q153X;	0.999824509745556	0.988
18	47093990	A	C	18	49567620	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.A458C:p.Q153P;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A422C:p.Q141P;ENSG00000101670:ENST00000577628:exon3:c.A566C:p.Q189P;ENSG00000101670:ENST00000580036:exon3:c.A458C:p.Q153P;ENSG00000101670:ENST00000261292:exon3:c.A458C:p.Q153P;ENSG00000101670:ENST00000427224:exon3:c.A458C:p.Q153P;	0.999889880909037	1.0
18	47093990	A	G	18	49567620	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.A458G:p.Q153R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A422G:p.Q141R;ENSG00000101670:ENST00000577628:exon3:c.A566G:p.Q189R;ENSG00000101670:ENST00000580036:exon3:c.A458G:p.Q153R;ENSG00000101670:ENST00000261292:exon3:c.A458G:p.Q153R;ENSG00000101670:ENST00000427224:exon3:c.A458G:p.Q153R;	0.999902402431922	1.0
18	47093990	A	T	18	49567620	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.A458T:p.Q153L;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A422T:p.Q141L;ENSG00000101670:ENST00000577628:exon3:c.A566T:p.Q189L;ENSG00000101670:ENST00000580036:exon3:c.A458T:p.Q153L;ENSG00000101670:ENST00000261292:exon3:c.A458T:p.Q153L;ENSG00000101670:ENST00000427224:exon3:c.A458T:p.Q153L;	0.999884391465262	1.0
18	47093991	G	A	18	49567621	y	n	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon3:c.G459A:p.Q153Q;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G423A:p.Q141Q;ENSG00000101670:ENST00000577628:exon3:c.G567A:p.Q189Q;ENSG00000101670:ENST00000580036:exon3:c.G459A:p.Q153Q;ENSG00000101670:ENST00000261292:exon3:c.G459A:p.Q153Q;ENSG00000101670:ENST00000427224:exon3:c.G459A:p.Q153Q;	0.99998747853715	0.998
18	47093991	G	C	18	49567621	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.G459C:p.Q153H;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G423C:p.Q141H;ENSG00000101670:ENST00000577628:exon3:c.G567C:p.Q189H;ENSG00000101670:ENST00000580036:exon3:c.G459C:p.Q153H;ENSG00000101670:ENST00000261292:exon3:c.G459C:p.Q153H;ENSG00000101670:ENST00000427224:exon3:c.G459C:p.Q153H;	0.999997023163208	1.0
18	47093991	G	T	18	49567621	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon3:c.G459T:p.Q153H;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G423T:p.Q141H;ENSG00000101670:ENST00000577628:exon3:c.G567T:p.Q189H;ENSG00000101670:ENST00000580036:exon3:c.G459T:p.Q153H;ENSG00000101670:ENST00000261292:exon3:c.G459T:p.Q153H;ENSG00000101670:ENST00000427224:exon3:c.G459T:p.Q153H;	0.999992581621154	1.0
18	47093992	G	A	18	49567622	y	n	splicing	LIPG(NM_006033:exon3:c.459+1G>A)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000577628:exon3:c.567+1G>A;ENST00000261292:exon3:c.459+1G>A;ENST00000427224:exon3:c.459+1G>A;ENST00000580036:exon3:c.459+1G>A)	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G424A:p.V142I;	0.999986675681007	0.952
18	47093992	G	C	18	49567622	y	n	splicing	LIPG(NM_006033:exon3:c.459+1G>C)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000577628:exon3:c.567+1G>C;ENST00000261292:exon3:c.459+1G>C;ENST00000427224:exon3:c.459+1G>C;ENST00000580036:exon3:c.459+1G>C)	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G424C:p.V142L;	0.999986675681007	0.944
18	47093992	G	T	18	49567622	y	n	splicing	LIPG(NM_006033:exon3:c.459+1G>T)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000577628:exon3:c.567+1G>T;ENST00000261292:exon3:c.459+1G>T;ENST00000427224:exon3:c.459+1G>T;ENST00000580036:exon3:c.459+1G>T)	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G424T:p.V142L;	0.999986675681007	0.952
18	47093993	T	A	18	49567623	y	n	splicing	LIPG(NM_006033:exon3:c.459+2T>A)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000577628:exon3:c.567+2T>A;ENST00000261292:exon3:c.459+2T>A;ENST00000427224:exon3:c.459+2T>A;ENST00000580036:exon3:c.459+2T>A)	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T425A:p.V142E;	0.999989917668626	0.936
18	47093993	T	C	18	49567623	y	n	splicing	LIPG(NM_006033:exon3:c.459+2T>C)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000577628:exon3:c.567+2T>C;ENST00000261292:exon3:c.459+2T>C;ENST00000427224:exon3:c.459+2T>C;ENST00000580036:exon3:c.459+2T>C)	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T425C:p.V142A;	0.988446862328525	0.612
18	47093993	T	G	18	49567623	y	n	splicing	LIPG(NM_006033:exon3:c.459+2T>G)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000577628:exon3:c.567+2T>G;ENST00000261292:exon3:c.459+2T>G;ENST00000427224:exon3:c.459+2T>G;ENST00000580036:exon3:c.459+2T>G)	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T425G:p.V142G;	0.999986903042585	0.934
18	47093994	A	C	18	49567624	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A426C:p.V142V;	0.999787803050914	0.916
18	47093994	A	G	18	49567624	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A426G:p.V142V;	0.734149261050651	0.614
18	47093994	A	T	18	49567624	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.A426T:p.V142V;	0.999604940603401	0.904
18	47093995	C	A	18	49567625	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.C427A:p.L143M;	2.85668231816722E-5	0.05
18	47093995	C	G	18	49567625	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.C427G:p.L143V;	3.85873288231756E-4	0.106
18	47093995	C	T	18	49567625	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.C427T:p.L143L;	2.1497019781162E-4	0.068
18	47093996	T	A	18	49567626	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T428A:p.L143Q;	3.03362522268862E-5	0.024
18	47093996	T	C	18	49567626	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T428C:p.L143P;	1.57232756716648E-5	0.008
18	47093996	T	G	18	49567626	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.T428G:p.L143R;	4.33202445328741E-5	0.018
18	47093997	G	A	18	49567627	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G429A:p.L143L;	2.54121970696807E-4	0.008
18	47093997	G	C	18	49567627	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G429C:p.L143L;	4.07125125475688E-4	0.034
18	47093997	G	T	18	49567627	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G429T:p.L143L;	7.720166691739E-5	0.024
18	47093998	G	A	18	49567628	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G430A:p.G144R;	9.90721542491387E-4	0.07
18	47093998	G	C	18	49567628	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G430C:p.G144R;	4.46743844129455E-4	0.006
18	47093998	G	T	18	49567628	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G430T:p.G144W;	7.21762827455054E-5	0.002
18	47093999	G	A	18	49567629	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G431A:p.G144E;	2.42679060864476E-4	0.02
18	47093999	G	C	18	49567629	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G431C:p.G144A;	8.15027478153083E-5	0.016
18	47093999	G	T	18	49567629	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000579750:exon3:c.G431T:p.G144V;	4.12882218031448E-4	0.018
18	47095795	G	A	18	49569425	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.01360592997022E-4	0.0
18	47095795	G	C	18	49569425	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	9.12333042265707E-5	0.0
18	47095795	G	T	18	49569425	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	9.87162179689986E-5	0.018
18	47095796	A	C	18	49569426	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.96011804374903E-5	0.002
18	47095796	A	G	18	49569426	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.86391995138238E-5	0.002
18	47095796	A	T	18	49569426	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.49733309115041E-5	0.056
18	47095797	C	A	18	49569427	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.50878717544856E-4	0.044
18	47095797	C	G	18	49569427	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.991617405778493	0.946
18	47095797	C	T	18	49569427	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.37163326501772E-5	0.0
18	47095798	T	A	18	49569428	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0752046774404278	0.306
18	47095798	T	C	18	49569428	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.19156073039953E-4	0.004
18	47095798	T	G	18	49569428	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0509582737973558	0.286
18	47095799	T	A	18	49569429	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.142478499893144	0.282
18	47095799	T	C	18	49569429	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.7460450649537E-5	0.012
18	47095799	T	G	18	49569429	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0358075295937365	0.262
18	47095800	T	A	18	49569430	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00462113354861722	0.138
18	47095800	T	C	18	49569430	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.62898223354462E-5	0.008
18	47095800	T	G	18	49569430	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0204492680328942	0.164
18	47095801	C	A	18	49569431	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00414775157644192	0.262
18	47095801	C	G	18	49569431	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0568918225075483	0.33
18	47095801	C	T	18	49569431	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.84480453878751E-5	0.002
18	47095802	T	A	18	49569432	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.200653071825888	0.512
18	47095802	T	C	18	49569432	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.45105362935105E-4	0.086
18	47095802	T	G	18	49569432	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.511346584492343	0.486
18	47095803	A	C	18	49569433	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.50087862248396E-5	0.0
18	47095803	A	G	18	49569433	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.87305171533574E-5	0.002
18	47095803	A	T	18	49569433	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.98944616650705E-5	0.0
18	47095804	T	A	18	49569434	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0428762847805919	0.372
18	47095804	T	C	18	49569434	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.37514783656203E-5	0.01
18	47095804	T	G	18	49569434	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.974149415138296	0.732
18	47095805	A	C	18	49569435	y	y	splicing	LIPG(NM_006033:exon4:c.460-2A>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.568-2A>C;ENST00000261292:exon4:c.460-2A>C;ENST00000427224:exon4:c.460-2A>C;ENST00000580036:exon4:c.460-2A>C)	.	.	0.999982151912279	0.892
18	47095805	A	G	18	49569435	y	y	splicing	LIPG(NM_006033:exon4:c.460-2A>G)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.568-2A>G;ENST00000261292:exon4:c.460-2A>G;ENST00000427224:exon4:c.460-2A>G;ENST00000580036:exon4:c.460-2A>G)	.	.	0.999982151912279	0.892
18	47095805	A	T	18	49569435	y	y	splicing	LIPG(NM_006033:exon4:c.460-2A>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.568-2A>T;ENST00000261292:exon4:c.460-2A>T;ENST00000427224:exon4:c.460-2A>T;ENST00000580036:exon4:c.460-2A>T)	.	.	0.999982151912279	0.894
18	47095806	G	A	18	49569436	y	y	splicing	LIPG(NM_006033:exon4:c.460-1G>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.568-1G>A;ENST00000261292:exon4:c.460-1G>A;ENST00000427224:exon4:c.460-1G>A;ENST00000580036:exon4:c.460-1G>A)	.	.	0.999960200702261	0.938
18	47095806	G	C	18	49569436	y	y	splicing	LIPG(NM_006033:exon4:c.460-1G>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.568-1G>C;ENST00000261292:exon4:c.460-1G>C;ENST00000427224:exon4:c.460-1G>C;ENST00000580036:exon4:c.460-1G>C)	.	.	0.999945530492988	0.888
18	47095806	G	T	18	49569436	y	y	splicing	LIPG(NM_006033:exon4:c.460-1G>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.568-1G>T;ENST00000261292:exon4:c.460-1G>T;ENST00000427224:exon4:c.460-1G>T;ENST00000580036:exon4:c.460-1G>T)	.	.	0.999958812450268	0.936
18	47095807	G	A	18	49569437	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.G460A:p.E154K;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.G568A:p.E190K;ENSG00000101670:ENST00000580036:exon4:c.G460A:p.E154K;ENSG00000101670:ENST00000261292:exon4:c.G460A:p.E154K;ENSG00000101670:ENST00000427224:exon4:c.G460A:p.E154K;	0.756193186420593	0.624
18	47095807	G	C	18	49569437	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.G460C:p.E154Q;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.G568C:p.E190Q;ENSG00000101670:ENST00000580036:exon4:c.G460C:p.E154Q;ENSG00000101670:ENST00000261292:exon4:c.G460C:p.E154Q;ENSG00000101670:ENST00000427224:exon4:c.G460C:p.E154Q;	0.970878443260649	0.734
18	47095807	G	T	18	49569437	y	y	exonic	LIPG	stopgain SNV	LIPG:NM_006033:exon4:c.G460T:p.E154X;	exonic	ENSG00000101670	stopgain SNV	ENSG00000101670:ENST00000577628:exon4:c.G568T:p.E190X;ENSG00000101670:ENST00000580036:exon4:c.G460T:p.E154X;ENSG00000101670:ENST00000261292:exon4:c.G460T:p.E154X;ENSG00000101670:ENST00000427224:exon4:c.G460T:p.E154X;	0.999833192534123	0.956
18	47095808	A	C	18	49569438	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.A461C:p.E154A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.A569C:p.E190A;ENSG00000101670:ENST00000580036:exon4:c.A461C:p.E154A;ENSG00000101670:ENST00000261292:exon4:c.A461C:p.E154A;ENSG00000101670:ENST00000427224:exon4:c.A461C:p.E154A;	3.08929400317878E-4	0.014
18	47095808	A	G	18	49569438	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.A461G:p.E154G;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.A569G:p.E190G;ENSG00000101670:ENST00000580036:exon4:c.A461G:p.E154G;ENSG00000101670:ENST00000261292:exon4:c.A461G:p.E154G;ENSG00000101670:ENST00000427224:exon4:c.A461G:p.E154G;	2.81585932087216E-4	0.022
18	47095808	A	T	18	49569438	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.A461T:p.E154V;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.A569T:p.E190V;ENSG00000101670:ENST00000580036:exon4:c.A461T:p.E154V;ENSG00000101670:ENST00000261292:exon4:c.A461T:p.E154V;ENSG00000101670:ENST00000427224:exon4:c.A461T:p.E154V;	6.08059873150677E-5	0.028
18	47095916	C	A	18	49569546	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.C569A:p.T190K;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.C677A:p.T226K;ENSG00000101670:ENST00000580036:exon4:c.C569A:p.T190K;ENSG00000101670:ENST00000261292:exon4:c.C569A:p.T190K;ENSG00000101670:ENST00000427224:exon4:c.C569A:p.T190K;	0.826119386669932	0.788
18	47095916	C	G	18	49569546	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.C569G:p.T190R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.C677G:p.T226R;ENSG00000101670:ENST00000580036:exon4:c.C569G:p.T190R;ENSG00000101670:ENST00000261292:exon4:c.C569G:p.T190R;ENSG00000101670:ENST00000427224:exon4:c.C569G:p.T190R;	0.557167997580096	0.622
18	47095916	C	T	18	49569546	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.C569T:p.T190I;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.C677T:p.T226I;ENSG00000101670:ENST00000580036:exon4:c.C569T:p.T190I;ENSG00000101670:ENST00000261292:exon4:c.C569T:p.T190I;ENSG00000101670:ENST00000427224:exon4:c.C569T:p.T190I;	0.998006785563978	0.838
18	47095917	A	C	18	49569547	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon4:c.A570C:p.T190T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.A678C:p.T226T;ENSG00000101670:ENST00000580036:exon4:c.A570C:p.T190T;ENSG00000101670:ENST00000261292:exon4:c.A570C:p.T190T;ENSG00000101670:ENST00000427224:exon4:c.A570C:p.T190T;	0.0841691576427579	0.416
18	47095917	A	G	18	49569547	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon4:c.A570G:p.T190T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.A678G:p.T226T;ENSG00000101670:ENST00000580036:exon4:c.A570G:p.T190T;ENSG00000101670:ENST00000261292:exon4:c.A570G:p.T190T;ENSG00000101670:ENST00000427224:exon4:c.A570G:p.T190T;	0.0531417798926529	0.3
18	47095917	A	T	18	49569547	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon4:c.A570T:p.T190T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.A678T:p.T226T;ENSG00000101670:ENST00000580036:exon4:c.A570T:p.T190T;ENSG00000101670:ENST00000261292:exon4:c.A570T:p.T190T;ENSG00000101670:ENST00000427224:exon4:c.A570T:p.T190T;	0.127683314517543	0.508
18	47095918	G	A	18	49569548	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.G571A:p.G191S;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.G679A:p.G227S;ENSG00000101670:ENST00000580036:exon4:c.G571A:p.G191S;ENSG00000101670:ENST00000261292:exon4:c.G571A:p.G191S;ENSG00000101670:ENST00000427224:exon4:c.G571A:p.A191T;	0.999940754697611	0.984
18	47095918	G	C	18	49569548	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.G571C:p.G191R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.G679C:p.G227R;ENSG00000101670:ENST00000580036:exon4:c.G571C:p.G191R;ENSG00000101670:ENST00000261292:exon4:c.G571C:p.G191R;ENSG00000101670:ENST00000427224:exon4:c.G571C:p.A191P;	0.999995750122793	1.0
18	47095918	G	T	18	49569548	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon4:c.G571T:p.G191C;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon4:c.G679T:p.G227C;ENSG00000101670:ENST00000580036:exon4:c.G571T:p.G191C;ENSG00000101670:ENST00000261292:exon4:c.G571T:p.G191C;ENSG00000101670:ENST00000427224:exon4:c.G571T:p.A191S;	0.999952154567221	0.996
18	47095919	G	A	18	49569549	y	y	splicing	LIPG(NM_006033:exon4:c.571+1G>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.679+1G>A;ENST00000261292:exon4:c.571+1G>A;ENST00000427224:exon4:c.571+1G>A;ENST00000580036:exon4:c.571+1G>A)	.	.	0.999986675681007	0.934
18	47095919	G	C	18	49569549	y	y	splicing	LIPG(NM_006033:exon4:c.571+1G>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.679+1G>C;ENST00000261292:exon4:c.571+1G>C;ENST00000427224:exon4:c.571+1G>C;ENST00000580036:exon4:c.571+1G>C)	.	.	0.999986675681007	0.932
18	47095919	G	T	18	49569549	y	y	splicing	LIPG(NM_006033:exon4:c.571+1G>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.679+1G>T;ENST00000261292:exon4:c.571+1G>T;ENST00000427224:exon4:c.571+1G>T;ENST00000580036:exon4:c.571+1G>T)	.	.	0.999986675681007	0.932
18	47095920	T	A	18	49569550	y	y	splicing	LIPG(NM_006033:exon4:c.571+2T>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.679+2T>A;ENST00000261292:exon4:c.571+2T>A;ENST00000427224:exon4:c.571+2T>A;ENST00000580036:exon4:c.571+2T>A)	.	.	0.999989917668626	0.924
18	47095920	T	C	18	49569550	y	y	splicing	LIPG(NM_006033:exon4:c.571+2T>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.679+2T>C;ENST00000261292:exon4:c.571+2T>C;ENST00000427224:exon4:c.571+2T>C;ENST00000580036:exon4:c.571+2T>C)	.	.	0.999927254940125	0.856
18	47095920	T	G	18	49569550	y	y	splicing	LIPG(NM_006033:exon4:c.571+2T>G)	.	.	splicing	ENSG00000101670(ENST00000577628:exon4:c.679+2T>G;ENST00000261292:exon4:c.571+2T>G;ENST00000427224:exon4:c.571+2T>G;ENST00000580036:exon4:c.571+2T>G)	.	.	0.999989917668626	0.924
18	47095921	G	A	18	49569551	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.07228071657346E-5	0.01
18	47095921	G	C	18	49569551	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.123799155994161	0.314
18	47095921	G	T	18	49569551	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.478950241565869	0.426
18	47095922	A	C	18	49569552	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.302163848970232	0.292
18	47095922	A	G	18	49569552	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.66165733025902	0.484
18	47095922	A	T	18	49569552	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.928931353154878	0.51
18	47095923	G	A	18	49569553	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.992471917775821	0.842
18	47095923	G	C	18	49569553	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.838793054889825	0.624
18	47095923	G	T	18	49569553	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.98906679295185	0.832
18	47095924	C	A	18	49569554	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.72791559344647E-4	0.014
18	47095924	C	G	18	49569554	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.58896015885924E-4	0.024
18	47095924	C	T	18	49569554	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	9.35445224442049E-5	0.002
18	47095925	T	A	18	49569555	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.41611190290672E-5	0.0
18	47095925	T	C	18	49569555	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.41611190290672E-5	0.0
18	47095925	T	G	18	49569555	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.41611190290672E-5	0.0
18	47095926	C	A	18	49569556	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.09316813601654E-5	0.0
18	47095926	C	G	18	49569556	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.54119550669582E-5	0.0
18	47095926	C	T	18	49569556	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.13049006409861E-5	0.0
18	47101727	C	A	18	49575357	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.35874818260188E-4	0.096
18	47101727	C	G	18	49575357	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.65199584751762E-4	0.004
18	47101727	C	T	18	49575357	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.17040174753982E-5	0.0
18	47101728	T	A	18	49575358	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0141394639817862	0.236
18	47101728	T	C	18	49575358	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.19085526144159E-4	0.054
18	47101728	T	G	18	49575358	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00190091631073275	0.194
18	47101729	T	A	18	49575359	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.25670530045336E-4	0.1
18	47101729	T	C	18	49575359	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.53540312009142E-4	0.086
18	47101729	T	G	18	49575359	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.11653929610718E-4	0.096
18	47101730	C	A	18	49575360	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00110029882494415	0.056
18	47101730	C	G	18	49575360	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.55345286711281E-4	0.044
18	47101730	C	T	18	49575360	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.5128400163915E-5	0.002
18	47101731	T	A	18	49575361	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.994515677889035	0.918
18	47101731	T	C	18	49575361	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.94053551055954E-5	0.006
18	47101731	T	G	18	49575361	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.31773318816813E-4	0.046
18	47101732	G	A	18	49575362	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.20736875765411E-5	0.002
18	47101732	G	C	18	49575362	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.04310829956158E-5	0.002
18	47101732	G	T	18	49575362	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.20922482832901E-5	0.0
18	47101733	C	A	18	49575363	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00105511033063862	0.05
18	47101733	C	G	18	49575363	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.69454661507999E-4	0.042
18	47101733	C	T	18	49575363	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.43857776458727E-5	0.002
18	47101734	T	A	18	49575364	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999352165387799	0.918
18	47101734	T	C	18	49575364	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.10990090916589E-4	0.032
18	47101734	T	G	18	49575364	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0463325617329099	0.35
18	47101735	G	A	18	49575365	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.47915896336781E-5	0.0
18	47101735	G	C	18	49575365	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.51411829067212E-5	0.0
18	47101735	G	T	18	49575365	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.48598448464148E-5	0.002
18	47101736	C	A	18	49575366	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.953190407057321	0.616
18	47101736	C	G	18	49575366	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.998786674942307	0.896
18	47101736	C	T	18	49575366	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.82459374349998E-4	0.216
18	47101737	A	C	18	49575367	y	y	splicing	LIPG(NM_006033:exon5:c.572-2A>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.680-2A>C;ENST00000261292:exon5:c.572-2A>C;ENST00000580036:exon5:c.572-2A>C)	.	.	0.999946188727699	0.946
18	47101737	A	G	18	49575367	y	y	splicing	LIPG(NM_006033:exon5:c.572-2A>G)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.680-2A>G;ENST00000261292:exon5:c.572-2A>G;ENST00000580036:exon5:c.572-2A>G)	.	.	0.999946188727699	0.946
18	47101737	A	T	18	49575367	y	y	splicing	LIPG(NM_006033:exon5:c.572-2A>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.680-2A>T;ENST00000261292:exon5:c.572-2A>T;ENST00000580036:exon5:c.572-2A>T)	.	.	0.999946188727699	0.948
18	47101738	G	A	18	49575368	y	y	splicing	LIPG(NM_006033:exon5:c.572-1G>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.680-1G>A;ENST00000261292:exon5:c.572-1G>A;ENST00000580036:exon5:c.572-1G>A)	.	.	0.999949496871441	0.942
18	47101738	G	C	18	49575368	y	y	splicing	LIPG(NM_006033:exon5:c.572-1G>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.680-1G>C;ENST00000261292:exon5:c.572-1G>C;ENST00000580036:exon5:c.572-1G>C)	.	.	0.999949496871441	0.946
18	47101738	G	T	18	49575368	y	y	splicing	LIPG(NM_006033:exon5:c.572-1G>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.680-1G>T;ENST00000261292:exon5:c.572-1G>T;ENST00000580036:exon5:c.572-1G>T)	.	.	0.999949496871441	0.946
18	47101739	G	A	18	49575369	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.G572A:p.G191D;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.G680A:p.G227D;ENSG00000101670:ENST00000580036:exon5:c.G572A:p.G191D;ENSG00000101670:ENST00000261292:exon5:c.G572A:p.G191D;	0.998813554107927	0.854
18	47101739	G	C	18	49575369	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.G572C:p.G191A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.G680C:p.G227A;ENSG00000101670:ENST00000580036:exon5:c.G572C:p.G191A;ENSG00000101670:ENST00000261292:exon5:c.G572C:p.G191A;	0.999789786405739	0.992
18	47101739	G	T	18	49575369	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.G572T:p.G191V;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.G680T:p.G227V;ENSG00000101670:ENST00000580036:exon5:c.G572T:p.G191V;ENSG00000101670:ENST00000261292:exon5:c.G572T:p.G191V;	0.999920810360428	0.996
18	47101740	T	A	18	49575370	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon5:c.T573A:p.G191G;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.T681A:p.G227G;ENSG00000101670:ENST00000580036:exon5:c.T573A:p.G191G;ENSG00000101670:ENST00000261292:exon5:c.T573A:p.G191G;	7.95438420652478E-5	0.016
18	47101740	T	C	18	49575370	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon5:c.T573C:p.G191G;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.T681C:p.G227G;ENSG00000101670:ENST00000580036:exon5:c.T573C:p.G191G;ENSG00000101670:ENST00000261292:exon5:c.T573C:p.G191G;	1.90668698003157E-4	0.118
18	47101740	T	G	18	49575370	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon5:c.T573G:p.G191G;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.T681G:p.G227G;ENSG00000101670:ENST00000580036:exon5:c.T573G:p.G191G;ENSG00000101670:ENST00000261292:exon5:c.T573G:p.G191G;	5.69445938692015E-5	0.058
18	47101958	G	A	18	49575588	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.G791A:p.G264E;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.G899A:p.G300E;ENSG00000101670:ENST00000580036:exon5:c.G791A:p.G264E;ENSG00000101670:ENST00000261292:exon5:c.G791A:p.G264E;	0.94842033390483	0.68
18	47101958	G	C	18	49575588	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.G791C:p.G264A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.G899C:p.G300A;ENSG00000101670:ENST00000580036:exon5:c.G791C:p.G264A;ENSG00000101670:ENST00000261292:exon5:c.G791C:p.G264A;	0.949114543337164	0.702
18	47101958	G	T	18	49575588	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.G791T:p.G264V;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.G899T:p.G300V;ENSG00000101670:ENST00000580036:exon5:c.G791T:p.G264V;ENSG00000101670:ENST00000261292:exon5:c.G791T:p.G264V;	0.970851897007507	0.732
18	47101959	A	C	18	49575589	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon5:c.A792C:p.G264G;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.A900C:p.G300G;ENSG00000101670:ENST00000580036:exon5:c.A792C:p.G264G;ENSG00000101670:ENST00000261292:exon5:c.A792C:p.G264G;	0.0201848886944543	0.458
18	47101959	A	G	18	49575589	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon5:c.A792G:p.G264G;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.A900G:p.G300G;ENSG00000101670:ENST00000580036:exon5:c.A792G:p.G264G;ENSG00000101670:ENST00000261292:exon5:c.A792G:p.G264G;	0.574995381143898	0.6
18	47101959	A	T	18	49575589	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon5:c.A792T:p.G264G;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.A900T:p.G300G;ENSG00000101670:ENST00000580036:exon5:c.A792T:p.G264G;ENSG00000101670:ENST00000261292:exon5:c.A792T:p.G264G;	0.687207012446266	0.576
18	47101960	A	C	18	49575590	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.A793C:p.T265P;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.A901C:p.T301P;ENSG00000101670:ENST00000580036:exon5:c.A793C:p.T265P;ENSG00000101670:ENST00000261292:exon5:c.A793C:p.T265P;	0.00767161846083562	0.202
18	47101960	A	G	18	49575590	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.A793G:p.T265A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.A901G:p.T301A;ENSG00000101670:ENST00000580036:exon5:c.A793G:p.T265A;ENSG00000101670:ENST00000261292:exon5:c.A793G:p.T265A;	7.20586820286591E-4	0.062
18	47101960	A	T	18	49575590	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon5:c.A793T:p.T265S;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon5:c.A901T:p.T301S;ENSG00000101670:ENST00000580036:exon5:c.A793T:p.T265S;ENSG00000101670:ENST00000261292:exon5:c.A793T:p.T265S;	1.53581588838384E-4	0.036
18	47101961	G	A	18	49575591	y	y	splicing	LIPG(NM_006033:exon5:c.793+1G>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.901+1G>A;ENST00000261292:exon5:c.793+1G>A;ENST00000580036:exon5:c.793+1G>A)	.	.	0.999969909457373	0.92
18	47101961	G	C	18	49575591	y	y	splicing	LIPG(NM_006033:exon5:c.793+1G>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.901+1G>C;ENST00000261292:exon5:c.793+1G>C;ENST00000580036:exon5:c.793+1G>C)	.	.	0.999969909457373	0.918
18	47101961	G	T	18	49575591	y	y	splicing	LIPG(NM_006033:exon5:c.793+1G>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.901+1G>T;ENST00000261292:exon5:c.793+1G>T;ENST00000580036:exon5:c.793+1G>T)	.	.	0.999969909457373	0.92
18	47101962	T	A	18	49575592	y	y	splicing	LIPG(NM_006033:exon5:c.793+2T>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.901+2T>A;ENST00000261292:exon5:c.793+2T>A;ENST00000580036:exon5:c.793+2T>A)	.	.	0.99993928974862	0.958
18	47101962	T	C	18	49575592	y	y	splicing	LIPG(NM_006033:exon5:c.793+2T>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.901+2T>C;ENST00000261292:exon5:c.793+2T>C;ENST00000580036:exon5:c.793+2T>C)	.	.	0.999809784661047	0.924
18	47101962	T	G	18	49575592	y	y	splicing	LIPG(NM_006033:exon5:c.793+2T>G)	.	.	splicing	ENSG00000101670(ENST00000577628:exon5:c.901+2T>G;ENST00000261292:exon5:c.793+2T>G;ENST00000580036:exon5:c.793+2T>G)	.	.	0.999960395825381	0.956
18	47101963	G	A	18	49575593	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.95638928450185E-5	0.026
18	47101963	G	C	18	49575593	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.982846448490233	0.616
18	47101963	G	T	18	49575593	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.818546033938909	0.546
18	47101964	A	C	18	49575594	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.96826361797824	0.788
18	47101964	A	G	18	49575594	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.992249725906079	0.878
18	47101964	A	T	18	49575594	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.993147605571631	0.874
18	47101965	G	A	18	49575595	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999964189839514	0.972
18	47101965	G	C	18	49575595	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999963697825645	0.996
18	47101965	G	T	18	49575595	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.99996634017867	0.988
18	47101966	T	A	18	49575596	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.983267408041061	0.726
18	47101966	T	C	18	49575596	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.971974048803883	0.766
18	47101966	T	G	18	49575596	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.980705882089268	0.724
18	47101967	T	A	18	49575597	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.12650773005937E-5	0.008
18	47101967	T	C	18	49575597	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.12650773005937E-5	0.0
18	47101967	T	G	18	49575597	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.12650773005937E-5	0.0
18	47101968	C	A	18	49575598	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.69113491838351E-4	0.058
18	47101968	C	G	18	49575598	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.76627055828008E-4	0.05
18	47101968	C	T	18	49575598	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.28663372549508E-4	0.006
18	47107773	T	A	18	49581403	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00113662566876305	0.18
18	47107773	T	C	18	49581403	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.09697968258596E-4	0.038
18	47107773	T	G	18	49581403	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00171216658832914	0.15
18	47107774	C	A	18	49581404	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00192338563208362	0.106
18	47107774	C	G	18	49581404	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00188783271252416	0.074
18	47107774	C	T	18	49581404	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.91320489499667E-5	0.0
18	47107775	C	A	18	49581405	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.03261792890136E-4	0.09
18	47107775	C	G	18	49581405	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.7932530050261E-4	0.094
18	47107775	C	T	18	49581405	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.22324660413101E-5	0.002
18	47107776	C	A	18	49581406	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.7208839793343E-4	0.088
18	47107776	C	G	18	49581406	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00106168753509197	0.084
18	47107776	C	T	18	49581406	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.95048459408849E-5	0.002
18	47107777	A	C	18	49581407	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.89583533404107E-5	0.0
18	47107777	A	G	18	49581407	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.83277102901073E-5	0.0
18	47107777	A	T	18	49581407	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.34769502286376E-5	0.0
18	47107778	C	A	18	49581408	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00159000022175898	0.028
18	47107778	C	G	18	49581408	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.998579302904983	0.928
18	47107778	C	T	18	49581408	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.03486454270256E-5	0.0
18	47107779	C	A	18	49581409	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.67046126161553E-4	0.122
18	47107779	C	G	18	49581409	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00160712407749738	0.174
18	47107779	C	T	18	49581409	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.31539923572093E-5	0.006
18	47107780	C	A	18	49581410	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.00407737755666E-4	0.068
18	47107780	C	G	18	49581410	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00566562677404312	0.11
18	47107780	C	T	18	49581410	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.79495740893101E-4	0.002
18	47107781	C	A	18	49581411	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.73919066389117E-5	0.004
18	47107781	C	G	18	49581411	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.26531214313566E-4	0.08
18	47107781	C	T	18	49581411	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.02997210736021E-4	0.012
18	47107782	C	A	18	49581412	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.653529466256841	0.608
18	47107782	C	G	18	49581412	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.995907623220332	0.738
18	47107782	C	T	18	49581412	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.40322765249538E-4	0.096
18	47107783	A	C	18	49581413	y	y	splicing	LIPG(NM_006033:exon6:c.794-2A>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon6:c.902-2A>C;ENST00000261292:exon6:c.794-2A>C;ENST00000427224:exon5:c.572-2A>C;ENST00000580036:exon6:c.794-2A>C)	.	.	0.99993872479901	0.92
18	47107783	A	G	18	49581413	y	y	splicing	LIPG(NM_006033:exon6:c.794-2A>G)	.	.	splicing	ENSG00000101670(ENST00000577628:exon6:c.902-2A>G;ENST00000261292:exon6:c.794-2A>G;ENST00000427224:exon5:c.572-2A>G;ENST00000580036:exon6:c.794-2A>G)	.	.	0.99993872479901	0.922
18	47107783	A	T	18	49581413	y	y	splicing	LIPG(NM_006033:exon6:c.794-2A>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon6:c.902-2A>T;ENST00000261292:exon6:c.794-2A>T;ENST00000427224:exon5:c.572-2A>T;ENST00000580036:exon6:c.794-2A>T)	.	.	0.999966900483727	0.928
18	47107784	G	A	18	49581414	y	y	splicing	LIPG(NM_006033:exon6:c.794-1G>A)	.	.	splicing	ENSG00000101670(ENST00000577628:exon6:c.902-1G>A;ENST00000261292:exon6:c.794-1G>A;ENST00000427224:exon5:c.572-1G>A;ENST00000580036:exon6:c.794-1G>A)	.	.	0.999987670894945	0.938
18	47107784	G	C	18	49581414	y	y	splicing	LIPG(NM_006033:exon6:c.794-1G>C)	.	.	splicing	ENSG00000101670(ENST00000577628:exon6:c.902-1G>C;ENST00000261292:exon6:c.794-1G>C;ENST00000427224:exon5:c.572-1G>C;ENST00000580036:exon6:c.794-1G>C)	.	.	0.999987670894945	0.938
18	47107784	G	T	18	49581414	y	y	splicing	LIPG(NM_006033:exon6:c.794-1G>T)	.	.	splicing	ENSG00000101670(ENST00000577628:exon6:c.902-1G>T;ENST00000261292:exon6:c.794-1G>T;ENST00000427224:exon5:c.572-1G>T;ENST00000580036:exon6:c.794-1G>T)	.	.	0.999987670894945	0.938
18	47107785	C	A	18	49581415	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.C794A:p.T265K;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C902A:p.T301K;ENSG00000101670:ENST00000580036:exon6:c.C794A:p.T265K;ENSG00000101670:ENST00000261292:exon6:c.C794A:p.T265K;ENSG00000101670:ENST00000427224:exon5:c.C572A:p.A191E;	0.00252719983915515	0.064
18	47107785	C	G	18	49581415	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.C794G:p.T265R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C902G:p.T301R;ENSG00000101670:ENST00000580036:exon6:c.C794G:p.T265R;ENSG00000101670:ENST00000261292:exon6:c.C794G:p.T265R;ENSG00000101670:ENST00000427224:exon5:c.C572G:p.A191G;	0.538253258501667	0.482
18	47107785	C	T	18	49581415	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.C794T:p.T265I;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C902T:p.T301I;ENSG00000101670:ENST00000580036:exon6:c.C794T:p.T265I;ENSG00000101670:ENST00000261292:exon6:c.C794T:p.T265I;ENSG00000101670:ENST00000427224:exon5:c.C572T:p.A191V;	0.983355710947395	0.802
18	47107786	A	C	18	49581416	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon6:c.A795C:p.T265T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A903C:p.T301T;ENSG00000101670:ENST00000580036:exon6:c.A795C:p.T265T;ENSG00000101670:ENST00000261292:exon6:c.A795C:p.T265T;ENSG00000101670:ENST00000427224:exon5:c.A573C:p.A191A;	4.19936581810924E-5	0.006
18	47107786	A	G	18	49581416	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon6:c.A795G:p.T265T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A903G:p.T301T;ENSG00000101670:ENST00000580036:exon6:c.A795G:p.T265T;ENSG00000101670:ENST00000261292:exon6:c.A795G:p.T265T;ENSG00000101670:ENST00000427224:exon5:c.A573G:p.A191A;	1.672287270132E-4	0.022
18	47107786	A	T	18	49581416	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon6:c.A795T:p.T265T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A903T:p.T301T;ENSG00000101670:ENST00000580036:exon6:c.A795T:p.T265T;ENSG00000101670:ENST00000261292:exon6:c.A795T:p.T265T;ENSG00000101670:ENST00000427224:exon5:c.A573T:p.A191A;	1.1211477635808E-5	0.002
18	47108025	G	A	18	49581655	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.G1034A:p.R345K;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1142A:p.R381K;ENSG00000101670:ENST00000580036:exon6:c.G1034A:p.R345K;ENSG00000101670:ENST00000261292:exon6:c.G1034A:p.R345K;ENSG00000101670:ENST00000427224:exon5:c.G812A:p.R271K;	1.01325244925756E-5	0.0
18	47108025	G	C	18	49581655	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.G1034C:p.R345T;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1142C:p.R381T;ENSG00000101670:ENST00000580036:exon6:c.G1034C:p.R345T;ENSG00000101670:ENST00000261292:exon6:c.G1034C:p.R345T;ENSG00000101670:ENST00000427224:exon5:c.G812C:p.R271T;	3.47208828894753E-5	0.004
18	47108025	G	T	18	49581655	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.G1034T:p.R345I;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1142T:p.R381I;ENSG00000101670:ENST00000580036:exon6:c.G1034T:p.R345I;ENSG00000101670:ENST00000261292:exon6:c.G1034T:p.R345I;ENSG00000101670:ENST00000427224:exon5:c.G812T:p.R271I;	0.00202087094792452	0.232
18	47108026	A	C	18	49581656	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.A1035C:p.R345S;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1143C:p.R381S;ENSG00000101670:ENST00000580036:exon6:c.A1035C:p.R345S;ENSG00000101670:ENST00000261292:exon6:c.A1035C:p.R345S;ENSG00000101670:ENST00000427224:exon5:c.A813C:p.R271S;	0.999365019014651	0.98
18	47108026	A	G	18	49581656	y	n	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon6:c.A1035G:p.R345R;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1143G:p.R381R;ENSG00000101670:ENST00000580036:exon6:c.A1035G:p.R345R;ENSG00000101670:ENST00000261292:exon6:c.A1035G:p.R345R;ENSG00000101670:ENST00000427224:exon5:c.A813G:p.R271R;	0.997952059705229	0.952
18	47108026	A	T	18	49581656	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.A1035T:p.R345S;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1143T:p.R381S;ENSG00000101670:ENST00000580036:exon6:c.A1035T:p.R345S;ENSG00000101670:ENST00000261292:exon6:c.A1035T:p.R345S;ENSG00000101670:ENST00000427224:exon5:c.A813T:p.R271S;	0.999793363679367	0.974
18	47108027	G	A	18	49581657	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.G1036A:p.V346I;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1144A:p.G382S;ENSG00000101670:ENST00000580036:exon6:c.G1036A:p.G346S;ENSG00000101670:ENST00000261292:exon6:c.G1036A:p.V346I;ENSG00000101670:ENST00000427224:exon5:c.G814A:p.V272I;	0.99999748848677	1.0
18	47108027	G	C	18	49581657	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.G1036C:p.V346L;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1144C:p.G382R;ENSG00000101670:ENST00000580036:exon6:c.G1036C:p.G346R;ENSG00000101670:ENST00000261292:exon6:c.G1036C:p.V346L;ENSG00000101670:ENST00000427224:exon5:c.G814C:p.V272L;	0.999991250124698	1.0
18	47108027	G	T	18	49581657	y	n	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon6:c.G1036T:p.V346F;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1144T:p.G382C;ENSG00000101670:ENST00000580036:exon6:c.G1036T:p.G346C;ENSG00000101670:ENST00000261292:exon6:c.G1036T:p.V346F;ENSG00000101670:ENST00000427224:exon5:c.G814T:p.V272F;	0.999974019167417	1.0
18	47108028	G	A	18	49581658	y	n	splicing	LIPG(NM_006033:exon6:c.1036+1G>A)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000261292:exon6:c.1036+1G>A;ENST00000427224:exon5:c.814+1G>A)	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1145A:p.G382D;ENSG00000101670:ENST00000580036:exon6:c.G1037A:p.G346D;	0.999984967332678	0.938
18	47108028	G	C	18	49581658	y	n	splicing	LIPG(NM_006033:exon6:c.1036+1G>C)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000261292:exon6:c.1036+1G>C;ENST00000427224:exon5:c.814+1G>C)	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1145C:p.G382A;ENSG00000101670:ENST00000580036:exon6:c.G1037C:p.G346A;	0.999984967332678	0.938
18	47108028	G	T	18	49581658	y	n	splicing	LIPG(NM_006033:exon6:c.1036+1G>T)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000261292:exon6:c.1036+1G>T;ENST00000427224:exon5:c.814+1G>T)	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.G1145T:p.G382V;ENSG00000101670:ENST00000580036:exon6:c.G1037T:p.G346V;	0.999984967332678	0.938
18	47108029	T	A	18	49581659	y	n	splicing	LIPG(NM_006033:exon6:c.1036+2T>A)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000261292:exon6:c.1036+2T>A;ENST00000427224:exon5:c.814+2T>A)	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1146A:p.G382G;ENSG00000101670:ENST00000580036:exon6:c.T1038A:p.G346G;	0.999986741007567	0.936
18	47108029	T	C	18	49581659	y	n	splicing	LIPG(NM_006033:exon6:c.1036+2T>C)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000261292:exon6:c.1036+2T>C;ENST00000427224:exon5:c.814+2T>C)	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1146C:p.G382G;ENSG00000101670:ENST00000580036:exon6:c.T1038C:p.G346G;	0.989670134731984	0.658
18	47108029	T	G	18	49581659	y	n	splicing	LIPG(NM_006033:exon6:c.1036+2T>G)	.	.	exonic;splicing	ENSG00000101670;ENSG00000101670(ENST00000261292:exon6:c.1036+2T>G;ENST00000427224:exon5:c.814+2T>G)	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1146G:p.G382G;ENSG00000101670:ENST00000580036:exon6:c.T1038G:p.G346G;	0.999986741007567	0.936
18	47108030	A	C	18	49581660	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1147C:p.N383H;ENSG00000101670:ENST00000580036:exon6:c.A1039C:p.N347H;	0.99975823243746	0.952
18	47108030	A	G	18	49581660	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1147G:p.N383D;ENSG00000101670:ENST00000580036:exon6:c.A1039G:p.N347D;	0.879798167855012	0.792
18	47108030	A	T	18	49581660	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1147T:p.N383Y;ENSG00000101670:ENST00000580036:exon6:c.A1039T:p.N347Y;	0.999789362927849	0.95
18	47108031	A	C	18	49581661	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1148C:p.N383T;ENSG00000101670:ENST00000580036:exon6:c.A1040C:p.N347T;	0.492799042790394	0.528
18	47108031	A	G	18	49581661	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1148G:p.N383S;ENSG00000101670:ENST00000580036:exon6:c.A1040G:p.N347S;	0.959587164517472	0.692
18	47108031	A	T	18	49581661	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.A1148T:p.N383I;ENSG00000101670:ENST00000580036:exon6:c.A1040T:p.N347I;	0.964364175137768	0.704
18	47108032	C	A	18	49581662	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C1149A:p.N383K;ENSG00000101670:ENST00000580036:exon6:c.C1041A:p.N347K;	1.07160849326169E-4	0.028
18	47108032	C	G	18	49581662	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C1149G:p.N383K;ENSG00000101670:ENST00000580036:exon6:c.C1041G:p.N347K;	3.90771606127281E-5	0.04
18	47108032	C	T	18	49581662	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C1149T:p.N383N;ENSG00000101670:ENST00000580036:exon6:c.C1041T:p.N347N;	0.0010151551356414	0.136
18	47108033	C	A	18	49581663	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C1150A:p.L384I;ENSG00000101670:ENST00000580036:exon6:c.C1042A:p.L348I;	0.00121001738755807	0.042
18	47108033	C	G	18	49581663	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C1150G:p.L384V;ENSG00000101670:ENST00000580036:exon6:c.C1042G:p.L348V;	4.69290728198489E-4	0.018
18	47108033	C	T	18	49581663	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.C1150T:p.L384F;ENSG00000101670:ENST00000580036:exon6:c.C1042T:p.L348F;	2.70579497660092E-4	0.072
18	47108034	T	A	18	49581664	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1151A:p.L384H;ENSG00000101670:ENST00000580036:exon6:c.T1043A:p.L348H;	2.5719134343189E-4	0.006
18	47108034	T	C	18	49581664	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1151C:p.L384P;ENSG00000101670:ENST00000580036:exon6:c.T1043C:p.L348P;	3.76045687534299E-4	0.014
18	47108034	T	G	18	49581664	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1151G:p.L384R;ENSG00000101670:ENST00000580036:exon6:c.T1043G:p.L348R;	4.13743237079758E-4	0.006
18	47108035	T	A	18	49581665	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1152A:p.L384L;ENSG00000101670:ENST00000580036:exon6:c.T1044A:p.L348L;	2.37432025496364E-5	0.0
18	47108035	T	C	18	49581665	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1152C:p.L384L;ENSG00000101670:ENST00000580036:exon6:c.T1044C:p.L348L;	3.46805480935969E-4	0.002
18	47108035	T	G	18	49581665	y	n	intronic	LIPG	.	.	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000577628:exon6:c.T1152G:p.L384L;ENSG00000101670:ENST00000580036:exon6:c.T1044G:p.L348L;	2.16680427783628E-5	0.0
18	47108720	C	A	18	49582350	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00936706213108581	0.088
18	47108720	C	G	18	49582350	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00273330770437763	0.094
18	47108720	C	T	18	49582350	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.44464396109118E-4	0.066
18	47108721	T	A	18	49582351	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999980801938881	0.952
18	47108721	T	C	18	49582351	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.83620037021808E-4	0.064
18	47108721	T	G	18	49582351	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.434979835151345	0.504
18	47108722	G	A	18	49582352	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.18704927114693E-4	0.002
18	47108722	G	C	18	49582352	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.36955758375969E-5	0.004
18	47108722	G	T	18	49582352	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.8393248019068E-5	0.014
18	47108723	T	A	18	49582353	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.992239096674545	0.684
18	47108723	T	C	18	49582353	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0335470471418092	0.314
18	47108723	T	G	18	49582353	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.975920720551175	0.64
18	47108724	C	A	18	49582354	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00989599426192472	0.1
18	47108724	C	G	18	49582354	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.01382981001097	0.108
18	47108724	C	T	18	49582354	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.30729716380276E-4	0.024
18	47108725	A	C	18	49582355	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.10756148702902E-5	0.0
18	47108725	A	G	18	49582355	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.32565428306852E-4	0.004
18	47108725	A	T	18	49582355	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.12045736040035E-5	0.008
18	47108726	C	A	18	49582356	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00116412619495299	0.318
18	47108726	C	G	18	49582356	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999476100461363	0.946
18	47108726	C	T	18	49582356	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.76385131605194E-5	0.002
18	47108727	T	A	18	49582357	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.993226480501358	0.896
18	47108727	T	C	18	49582357	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.25421991559419E-5	0.014
18	47108727	T	G	18	49582357	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.147078316685398	0.406
18	47108728	G	A	18	49582358	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.2864318074385E-5	0.0
18	47108728	G	C	18	49582358	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.65924563100939E-5	0.0
18	47108728	G	T	18	49582358	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.04450676225396E-5	0.0
18	47108729	C	A	18	49582359	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.998261329310044	0.876
18	47108729	C	G	18	49582359	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999840501904343	0.894
18	47108729	C	T	18	49582359	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.517620659748889	0.47
18	47108730	A	C	18	49582360	y	y	splicing	LIPG(NM_006033:exon7:c.1037-2A>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1037-2A>C;ENST00000427224:exon6:c.815-2A>C)	.	.	0.999990764389106	0.934
18	47108730	A	G	18	49582360	y	y	splicing	LIPG(NM_006033:exon7:c.1037-2A>G)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1037-2A>G;ENST00000427224:exon6:c.815-2A>G)	.	.	0.999990764389106	0.934
18	47108730	A	T	18	49582360	y	y	splicing	LIPG(NM_006033:exon7:c.1037-2A>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1037-2A>T;ENST00000427224:exon6:c.815-2A>T)	.	.	0.999990764389106	0.934
18	47108731	G	A	18	49582361	y	y	splicing	LIPG(NM_006033:exon7:c.1037-1G>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1037-1G>A;ENST00000427224:exon6:c.815-1G>A)	.	.	0.999991412108771	0.936
18	47108731	G	C	18	49582361	y	y	splicing	LIPG(NM_006033:exon7:c.1037-1G>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1037-1G>C;ENST00000427224:exon6:c.815-1G>C)	.	.	0.999991412108771	0.936
18	47108731	G	T	18	49582361	y	y	splicing	LIPG(NM_006033:exon7:c.1037-1G>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1037-1G>T;ENST00000427224:exon6:c.815-1G>T)	.	.	0.999991412108771	0.936
18	47108732	T	A	18	49582362	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.T1037A:p.V346D;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1037A:p.V346D;ENSG00000101670:ENST00000427224:exon6:c.T815A:p.V272D;	0.706055846553116	0.572
18	47108732	T	C	18	49582362	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.T1037C:p.V346A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1037C:p.V346A;ENSG00000101670:ENST00000427224:exon6:c.T815C:p.V272A;	0.964632063407676	0.592
18	47108732	T	G	18	49582362	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.T1037G:p.V346G;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1037G:p.V346G;ENSG00000101670:ENST00000427224:exon6:c.T815G:p.V272G;	0.0105238440012936	0.112
18	47108733	T	A	18	49582363	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon7:c.T1038A:p.V346V;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1038A:p.V346V;ENSG00000101670:ENST00000427224:exon6:c.T816A:p.V272V;	5.93892791805001E-4	0.08
18	47108733	T	C	18	49582363	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon7:c.T1038C:p.V346V;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1038C:p.V346V;ENSG00000101670:ENST00000427224:exon6:c.T816C:p.V272V;	9.45308783615001E-4	0.096
18	47108733	T	G	18	49582363	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon7:c.T1038G:p.V346V;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1038G:p.V346V;ENSG00000101670:ENST00000427224:exon6:c.T816G:p.V272V;	4.27920688096116E-4	0.066
18	47108850	A	C	18	49582480	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.A1155C:p.E385D;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.A1155C:p.E385D;ENSG00000101670:ENST00000427224:exon6:c.A933C:p.E311D;	6.41980453502742E-5	0.016
18	47108850	A	G	18	49582480	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon7:c.A1155G:p.E385E;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.A1155G:p.E385E;ENSG00000101670:ENST00000427224:exon6:c.A933G:p.E311E;	4.015681220857E-5	0.002
18	47108850	A	T	18	49582480	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.A1155T:p.E385D;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.A1155T:p.E385D;ENSG00000101670:ENST00000427224:exon6:c.A933T:p.E311D;	0.00389815677715564	0.2
18	47108851	A	C	18	49582481	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.A1156C:p.I386L;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.A1156C:p.I386L;ENSG00000101670:ENST00000427224:exon6:c.A934C:p.I312L;	0.0387095734322135	0.504
18	47108851	A	G	18	49582481	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.A1156G:p.I386V;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.A1156G:p.I386V;ENSG00000101670:ENST00000427224:exon6:c.A934G:p.I312V;	0.0243393014403979	0.28
18	47108851	A	T	18	49582481	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.A1156T:p.I386L;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.A1156T:p.I386L;ENSG00000101670:ENST00000427224:exon6:c.A934T:p.I312L;	0.0314600282724128	0.484
18	47108852	T	A	18	49582482	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.T1157A:p.I386K;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1157A:p.I386K;ENSG00000101670:ENST00000427224:exon6:c.T935A:p.I312K;	0.904349074599977	0.8
18	47108852	T	C	18	49582482	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.T1157C:p.I386T;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1157C:p.I386T;ENSG00000101670:ENST00000427224:exon6:c.T935C:p.I312T;	0.917372742299344	0.806
18	47108852	T	G	18	49582482	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon7:c.T1157G:p.I386R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon7:c.T1157G:p.I386R;ENSG00000101670:ENST00000427224:exon6:c.T935G:p.I312R;	0.463461099748953	0.368
18	47108853	G	A	18	49582483	y	y	splicing	LIPG(NM_006033:exon7:c.1157+1G>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1157+1G>A;ENST00000427224:exon6:c.935+1G>A)	.	.	0.999982737877662	0.938
18	47108853	G	C	18	49582483	y	y	splicing	LIPG(NM_006033:exon7:c.1157+1G>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1157+1G>C;ENST00000427224:exon6:c.935+1G>C)	.	.	0.99995545544995	0.932
18	47108853	G	T	18	49582483	y	y	splicing	LIPG(NM_006033:exon7:c.1157+1G>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1157+1G>T;ENST00000427224:exon6:c.935+1G>T)	.	.	0.999982737877662	0.932
18	47108854	T	A	18	49582484	y	y	splicing	LIPG(NM_006033:exon7:c.1157+2T>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1157+2T>A;ENST00000427224:exon6:c.935+2T>A)	.	.	0.99994568797423	0.932
18	47108854	T	C	18	49582484	y	y	splicing	LIPG(NM_006033:exon7:c.1157+2T>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1157+2T>C;ENST00000427224:exon6:c.935+2T>C)	.	.	0.991823161717226	0.734
18	47108854	T	G	18	49582484	y	y	splicing	LIPG(NM_006033:exon7:c.1157+2T>G)	.	.	splicing	ENSG00000101670(ENST00000261292:exon7:c.1157+2T>G;ENST00000427224:exon6:c.935+2T>G)	.	.	0.99994568797423	0.934
18	47108855	A	C	18	49582485	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.994791586021715	0.75
18	47108855	A	G	18	49582485	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.61430847334195E-4	0.02
18	47108855	A	T	18	49582485	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.992629999257474	0.658
18	47108856	A	C	18	49582486	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.874869962399909	0.58
18	47108856	A	G	18	49582486	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.998763071475215	0.81
18	47108856	A	T	18	49582486	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.957476620804178	0.756
18	47108857	G	A	18	49582487	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999882834947591	0.966
18	47108857	G	C	18	49582487	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.99877465793381	0.766
18	47108857	G	T	18	49582487	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999918883278227	0.942
18	47108858	T	A	18	49582488	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.589593244000609	0.486
18	47108858	T	C	18	49582488	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.188864163908124	0.484
18	47108858	T	G	18	49582488	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0482705589584416	0.388
18	47108859	C	A	18	49582489	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.77457243820827E-5	0.0
18	47108859	C	G	18	49582489	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.77457243820827E-5	0.0
18	47108859	C	T	18	49582489	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.74108293950862E-5	0.024
18	47108860	A	C	18	49582490	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.70337218186484E-5	0.0
18	47108860	A	G	18	49582490	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.09105271056891E-5	0.002
18	47108860	A	T	18	49582490	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.09105271056891E-5	0.0
18	47109914	T	A	18	49583544	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00580771263837597	0.302
18	47109914	T	C	18	49583544	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.13856930701997E-4	0.032
18	47109914	T	G	18	49583544	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0185361920344416	0.34
18	47109915	C	A	18	49583545	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0698784116702933	0.098
18	47109915	C	G	18	49583545	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0022746988060344	0.06
18	47109915	C	T	18	49583545	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.26233155966305E-5	0.002
18	47109916	C	A	18	49583546	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.46433649309996E-4	0.026
18	47109916	C	G	18	49583546	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	9.57184444272475E-5	0.006
18	47109916	C	T	18	49583546	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.35031423102131E-5	0.004
18	47109917	C	A	18	49583547	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.54046225546024E-4	0.044
18	47109917	C	G	18	49583547	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.3938918743306E-4	0.052
18	47109917	C	T	18	49583547	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.0384320143013E-5	0.026
18	47109918	A	C	18	49583548	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.01268224799185E-5	0.0
18	47109918	A	G	18	49583548	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.34230574383006E-5	0.004
18	47109918	A	T	18	49583548	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.94101188748611E-5	0.0
18	47109919	C	A	18	49583549	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00309514507140203	0.108
18	47109919	C	G	18	49583549	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999980640334804	0.994
18	47109919	C	T	18	49583549	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.63235147112665E-4	0.002
18	47109920	T	A	18	49583550	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.291457310597015	0.276
18	47109920	T	C	18	49583550	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.78765085253592E-4	0.0
18	47109920	T	G	18	49583550	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.198376486620942	0.266
18	47109921	T	A	18	49583551	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.99956347040817	0.956
18	47109921	T	C	18	49583551	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.2993154389483E-4	0.046
18	47109921	T	G	18	49583551	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.591874015082609	0.506
18	47109922	G	A	18	49583552	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.26607331373097E-4	0.008
18	47109922	G	C	18	49583552	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.47421366433074E-4	0.008
18	47109922	G	T	18	49583552	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.29603065780364E-4	0.038
18	47109923	T	A	18	49583553	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0100152887021635	0.268
18	47109923	T	C	18	49583553	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.28434242516668E-5	0.004
18	47109923	T	G	18	49583553	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.87943461284428	0.662
18	47109924	A	C	18	49583554	y	y	splicing	LIPG(NM_006033:exon8:c.1158-2A>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1158-2A>C;ENST00000427224:exon7:c.936-2A>C)	.	.	0.999978952611685	0.926
18	47109924	A	G	18	49583554	y	y	splicing	LIPG(NM_006033:exon8:c.1158-2A>G)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1158-2A>G;ENST00000427224:exon7:c.936-2A>G)	.	.	0.999978952611685	0.926
18	47109924	A	T	18	49583554	y	y	splicing	LIPG(NM_006033:exon8:c.1158-2A>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1158-2A>T;ENST00000427224:exon7:c.936-2A>T)	.	.	0.999988247793601	0.924
18	47109925	G	A	18	49583555	y	y	splicing	LIPG(NM_006033:exon8:c.1158-1G>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1158-1G>A;ENST00000427224:exon7:c.936-1G>A)	.	.	0.999986675681007	0.932
18	47109925	G	C	18	49583555	y	y	splicing	LIPG(NM_006033:exon8:c.1158-1G>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1158-1G>C;ENST00000427224:exon7:c.936-1G>C)	.	.	0.999986675681007	0.932
18	47109925	G	T	18	49583555	y	y	splicing	LIPG(NM_006033:exon8:c.1158-1G>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1158-1G>T;ENST00000427224:exon7:c.936-1G>T)	.	.	0.999986675681007	0.932
18	47109926	A	C	18	49583556	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon8:c.A1158C:p.I386I;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.A1158C:p.I386I;ENSG00000101670:ENST00000427224:exon7:c.A936C:p.I312I;	1.38034076378935E-4	0.006
18	47109926	A	G	18	49583556	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.A1158G:p.I386M;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.A1158G:p.I386M;ENSG00000101670:ENST00000427224:exon7:c.A936G:p.I312M;	2.33305598724541E-5	0.0
18	47109926	A	T	18	49583556	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon8:c.A1158T:p.I386I;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.A1158T:p.I386I;ENSG00000101670:ENST00000427224:exon7:c.A936T:p.I312I;	1.75146385324743E-4	0.002
18	47109927	G	A	18	49583557	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.G1159A:p.V387M;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.G1159A:p.V387M;ENSG00000101670:ENST00000427224:exon7:c.G937A:p.V313M;	0.0159994177396953	0.204
18	47109927	G	C	18	49583557	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.G1159C:p.V387L;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.G1159C:p.V387L;ENSG00000101670:ENST00000427224:exon7:c.G937C:p.V313L;	3.26931955661424E-4	0.054
18	47109927	G	T	18	49583557	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.G1159T:p.V387L;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.G1159T:p.V387L;ENSG00000101670:ENST00000427224:exon7:c.G937T:p.V313L;	4.40311779577251E-4	0.036
18	47110142	G	A	18	49583772	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon8:c.G1374A:p.R458R;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.G1374A:p.R458R;ENSG00000101670:ENST00000427224:exon7:c.G1152A:p.R384R;	4.239511973592E-5	0.026
18	47110142	G	C	18	49583772	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon8:c.G1374C:p.R458R;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.G1374C:p.R458R;ENSG00000101670:ENST00000427224:exon7:c.G1152C:p.R384R;	2.90106186091775E-5	0.03
18	47110142	G	T	18	49583772	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon8:c.G1374T:p.R458R;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.G1374T:p.R458R;ENSG00000101670:ENST00000427224:exon7:c.G1152T:p.R384R;	0.00112231878165357	0.068
18	47110143	A	C	18	49583773	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.A1375C:p.K459Q;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.A1375C:p.K459Q;ENSG00000101670:ENST00000427224:exon7:c.A1153C:p.K385Q;	0.991314140412347	0.828
18	47110143	A	G	18	49583773	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.A1375G:p.K459E;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.A1375G:p.K459E;ENSG00000101670:ENST00000427224:exon7:c.A1153G:p.K385E;	0.997098460665125	0.884
18	47110143	A	T	18	49583773	y	y	exonic	LIPG	stopgain SNV	LIPG:NM_006033:exon8:c.A1375T:p.K459X;	exonic	ENSG00000101670	stopgain SNV	ENSG00000101670:ENST00000261292:exon8:c.A1375T:p.K459X;ENSG00000101670:ENST00000427224:exon7:c.A1153T:p.K385X;	0.996526970413661	0.868
18	47110144	A	C	18	49583774	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.A1376C:p.K459T;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.A1376C:p.K459T;ENSG00000101670:ENST00000427224:exon7:c.A1154C:p.K385T;	2.44042818871916E-5	0.15
18	47110144	A	G	18	49583774	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.A1376G:p.K459R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.A1376G:p.K459R;ENSG00000101670:ENST00000427224:exon7:c.A1154G:p.K385R;	5.54112518262041E-5	0.122
18	47110144	A	T	18	49583774	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon8:c.A1376T:p.K459I;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon8:c.A1376T:p.K459I;ENSG00000101670:ENST00000427224:exon7:c.A1154T:p.K385I;	2.79764341180374E-4	0.142
18	47110145	G	A	18	49583775	y	y	splicing	LIPG(NM_006033:exon8:c.1376+1G>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1376+1G>A;ENST00000427224:exon7:c.1154+1G>A)	.	.	0.999986675681007	0.932
18	47110145	G	C	18	49583775	y	y	splicing	LIPG(NM_006033:exon8:c.1376+1G>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1376+1G>C;ENST00000427224:exon7:c.1154+1G>C)	.	.	0.999986675681007	0.932
18	47110145	G	T	18	49583775	y	y	splicing	LIPG(NM_006033:exon8:c.1376+1G>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1376+1G>T;ENST00000427224:exon7:c.1154+1G>T)	.	.	0.999986675681007	0.932
18	47110146	T	A	18	49583776	y	y	splicing	LIPG(NM_006033:exon8:c.1376+2T>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1376+2T>A;ENST00000427224:exon7:c.1154+2T>A)	.	.	0.999988247793601	0.928
18	47110146	T	C	18	49583776	y	y	splicing	LIPG(NM_006033:exon8:c.1376+2T>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1376+2T>C;ENST00000427224:exon7:c.1154+2T>C)	.	.	0.991305317320824	0.646
18	47110146	T	G	18	49583776	y	y	splicing	LIPG(NM_006033:exon8:c.1376+2T>G)	.	.	splicing	ENSG00000101670(ENST00000261292:exon8:c.1376+2T>G;ENST00000427224:exon7:c.1154+2T>G)	.	.	0.999988247793601	0.928
18	47110147	A	C	18	49583777	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.997785438719976	0.698
18	47110147	A	G	18	49583777	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00636900271156954	0.222
18	47110147	A	T	18	49583777	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.967350175616375	0.64
18	47110148	A	C	18	49583778	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.949773178052748	0.618
18	47110148	A	G	18	49583778	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.977416225466669	0.81
18	47110148	A	T	18	49583778	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.951084480811952	0.65
18	47110149	G	A	18	49583779	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.99924545691214	0.882
18	47110149	G	C	18	49583779	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999063113254683	0.984
18	47110149	G	T	18	49583779	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999588999418658	0.898
18	47110150	T	A	18	49583780	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.983996391392924	0.78
18	47110150	T	C	18	49583780	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.899120782940744	0.79
18	47110150	T	G	18	49583780	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.977612704515347	0.742
18	47110151	G	A	18	49583781	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.29508689408969E-4	0.0
18	47110151	G	C	18	49583781	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.2920705451824E-4	0.092
18	47110151	G	T	18	49583781	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.10579896496498E-4	0.0
18	47110152	C	A	18	49583782	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.0311458103942E-5	0.008
18	47110152	C	G	18	49583782	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.0311458103942E-5	0.002
18	47110152	C	T	18	49583782	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.28591857522327E-5	0.0
18	47113104	T	A	18	49586734	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.65323608889558E-4	0.068
18	47113104	T	C	18	49586734	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.84443782708307E-5	0.01
18	47113104	T	G	18	49586734	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.66914683272537E-4	0.1
18	47113105	T	A	18	49586735	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00619888180251462	0.258
18	47113105	T	C	18	49586735	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.91316289247787E-4	0.034
18	47113105	T	G	18	49586735	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00159829077567271	0.104
18	47113106	T	A	18	49586736	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00586874410833144	0.204
18	47113106	T	C	18	49586736	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.14591578649065E-4	0.002
18	47113106	T	G	18	49586736	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00192908853207966	0.164
18	47113107	C	A	18	49586737	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.00737611216058E-4	0.044
18	47113107	C	G	18	49586737	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.02698226174186E-4	0.014
18	47113107	C	T	18	49586737	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.33672399958124E-5	0.0
18	47113108	C	A	18	49586738	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.40364151198515E-4	0.034
18	47113108	C	G	18	49586738	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.41291295658526E-4	0.048
18	47113108	C	T	18	49586738	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.31077163837242E-5	0.002
18	47113109	C	A	18	49586739	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.15268062351152E-4	0.044
18	47113109	C	G	18	49586739	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	7.78161116580282E-5	0.012
18	47113109	C	T	18	49586739	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.19404206227756E-5	0.0
18	47113110	T	A	18	49586740	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00316481238150688	0.144
18	47113110	T	C	18	49586740	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.32948016140531E-4	0.008
18	47113110	T	G	18	49586740	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00612161953764589	0.154
18	47113111	C	A	18	49586741	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	9.64993904096688E-4	0.082
18	47113111	C	G	18	49586741	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.88657821713842E-4	0.036
18	47113111	C	T	18	49586741	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.84997913194275E-5	0.0
18	47113112	C	A	18	49586742	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.590709882579E-4	0.014
18	47113112	C	G	18	49586742	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.14395373029533E-4	0.014
18	47113112	C	T	18	49586742	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	9.43601617697728E-4	0.018
18	47113113	T	A	18	49586743	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0408458233790765	0.364
18	47113113	T	C	18	49586743	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.86699755275282E-5	0.01
18	47113113	T	G	18	49586743	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.742926330499224	0.6
18	47113114	A	C	18	49586744	y	y	splicing	LIPG(NM_006033:exon9:c.1377-2A>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1377-2A>C;ENST00000427224:exon8:c.1155-2A>C)	.	.	0.999988247793601	0.928
18	47113114	A	G	18	49586744	y	y	splicing	LIPG(NM_006033:exon9:c.1377-2A>G)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1377-2A>G;ENST00000427224:exon8:c.1155-2A>G)	.	.	0.999988247793601	0.928
18	47113114	A	T	18	49586744	y	y	splicing	LIPG(NM_006033:exon9:c.1377-2A>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1377-2A>T;ENST00000427224:exon8:c.1155-2A>T)	.	.	0.999988247793601	0.928
18	47113115	G	A	18	49586745	y	y	splicing	LIPG(NM_006033:exon9:c.1377-1G>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1377-1G>A;ENST00000427224:exon8:c.1155-1G>A)	.	.	0.999989072007339	0.934
18	47113115	G	C	18	49586745	y	y	splicing	LIPG(NM_006033:exon9:c.1377-1G>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1377-1G>C;ENST00000427224:exon8:c.1155-1G>C)	.	.	0.999989072007339	0.932
18	47113115	G	T	18	49586745	y	y	splicing	LIPG(NM_006033:exon9:c.1377-1G>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1377-1G>T;ENST00000427224:exon8:c.1155-1G>T)	.	.	0.999989072007339	0.932
18	47113116	A	C	18	49586746	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.A1377C:p.K459N;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.A1377C:p.K459N;ENSG00000101670:ENST00000427224:exon8:c.A1155C:p.K385N;	2.30320535728251E-5	0.144
18	47113116	A	G	18	49586746	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon9:c.A1377G:p.K459K;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.A1377G:p.K459K;ENSG00000101670:ENST00000427224:exon8:c.A1155G:p.K385K;	5.88290745818286E-5	0.002
18	47113116	A	T	18	49586746	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.A1377T:p.K459N;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.A1377T:p.K459N;ENSG00000101670:ENST00000427224:exon8:c.A1155T:p.K385N;	1.91856858256413E-5	0.064
18	47113117	C	A	18	49586747	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.C1378A:p.L460M;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.C1378A:p.L460M;ENSG00000101670:ENST00000427224:exon8:c.C1156A:p.L386M;	5.85145369559562E-5	0.002
18	47113117	C	G	18	49586747	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.C1378G:p.L460V;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.C1378G:p.L460V;ENSG00000101670:ENST00000427224:exon8:c.C1156G:p.L386V;	3.35945668330193E-5	0.002
18	47113117	C	T	18	49586747	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon9:c.C1378T:p.L460L;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.C1378T:p.L460L;ENSG00000101670:ENST00000427224:exon8:c.C1156T:p.L386L;	2.82194466569212E-5	0.0
18	47113218	C	A	18	49586848	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon9:c.C1479A:p.T493T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.C1479A:p.T493T;ENSG00000101670:ENST00000427224:exon8:c.C1257A:p.T419T;	0.00203372902819409	0.134
18	47113218	C	G	18	49586848	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon9:c.C1479G:p.T493T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.C1479G:p.T493T;ENSG00000101670:ENST00000427224:exon8:c.C1257G:p.T419T;	0.00291453651366194	0.094
18	47113218	C	T	18	49586848	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon9:c.C1479T:p.T493T;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.C1479T:p.T493T;ENSG00000101670:ENST00000427224:exon8:c.C1257T:p.T419T;	0.7778915740041	0.692
18	47113219	A	C	18	49586849	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.A1480C:p.S494R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.A1480C:p.S494R;ENSG00000101670:ENST00000427224:exon8:c.A1258C:p.S420R;	0.997565795061488	0.952
18	47113219	A	G	18	49586849	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.A1480G:p.S494G;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.A1480G:p.S494G;ENSG00000101670:ENST00000427224:exon8:c.A1258G:p.S420G;	0.998683825587837	0.972
18	47113219	A	T	18	49586849	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.A1480T:p.S494C;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.A1480T:p.S494C;ENSG00000101670:ENST00000427224:exon8:c.A1258T:p.S420C;	0.999855847680406	1.0
18	47113220	G	A	18	49586850	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.G1481A:p.S494N;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.G1481A:p.S494N;ENSG00000101670:ENST00000427224:exon8:c.G1259A:p.S420N;	0.999984861643101	0.996
18	47113220	G	C	18	49586850	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.G1481C:p.S494T;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.G1481C:p.S494T;ENSG00000101670:ENST00000427224:exon8:c.G1259C:p.S420T;	0.999980462737805	0.982
18	47113220	G	T	18	49586850	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon9:c.G1481T:p.S494I;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon9:c.G1481T:p.S494I;ENSG00000101670:ENST00000427224:exon8:c.G1259T:p.S420I;	0.999974082183275	0.996
18	47113221	G	A	18	49586851	y	y	splicing	LIPG(NM_006033:exon9:c.1481+1G>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1481+1G>A;ENST00000427224:exon8:c.1259+1G>A)	.	.	0.999989072007339	0.934
18	47113221	G	C	18	49586851	y	y	splicing	LIPG(NM_006033:exon9:c.1481+1G>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1481+1G>C;ENST00000427224:exon8:c.1259+1G>C)	.	.	0.999989072007339	0.934
18	47113221	G	T	18	49586851	y	y	splicing	LIPG(NM_006033:exon9:c.1481+1G>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1481+1G>T;ENST00000427224:exon8:c.1259+1G>T)	.	.	0.999989072007339	0.934
18	47113222	T	A	18	49586852	y	y	splicing	LIPG(NM_006033:exon9:c.1481+2T>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1481+2T>A;ENST00000427224:exon8:c.1259+2T>A)	.	.	0.999988247793601	0.928
18	47113222	T	C	18	49586852	y	y	splicing	LIPG(NM_006033:exon9:c.1481+2T>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1481+2T>C;ENST00000427224:exon8:c.1259+2T>C)	.	.	0.986973409415639	0.664
18	47113222	T	G	18	49586852	y	y	splicing	LIPG(NM_006033:exon9:c.1481+2T>G)	.	.	splicing	ENSG00000101670(ENST00000261292:exon9:c.1481+2T>G;ENST00000427224:exon8:c.1259+2T>G)	.	.	0.999988247793601	0.926
18	47113223	A	C	18	49586853	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999287093917558	0.84
18	47113223	A	G	18	49586853	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.238958547816475	0.472
18	47113223	A	T	18	49586853	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.99930606768801	0.78
18	47113224	A	C	18	49586854	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.11367088026265	0.474
18	47113224	A	G	18	49586854	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.816444249866989	0.482
18	47113224	A	T	18	49586854	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.761451863836049	0.512
18	47113225	C	A	18	49586855	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.16940788476241E-5	0.008
18	47113225	C	G	18	49586855	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.72130799908469E-5	0.014
18	47113225	C	T	18	49586855	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.10369693729092E-4	0.036
18	47113226	C	A	18	49586856	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.61552074818139E-4	0.0
18	47113226	C	G	18	49586856	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.2853948323912E-4	0.024
18	47113226	C	T	18	49586856	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.98868283655284E-5	0.008
18	47113227	A	C	18	49586857	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.32003173768759E-5	0.002
18	47113227	A	G	18	49586857	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.44424359747409E-4	0.002
18	47113227	A	T	18	49586857	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.78273164562179E-4	0.002
18	47113228	G	A	18	49586858	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.132253376606E-5	0.002
18	47113228	G	C	18	49586858	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.38499317981042E-5	0.0
18	47113228	G	T	18	49586858	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.38499317981042E-5	0.0
18	47116859	G	A	18	49590489	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999305691399974	0.964
18	47116859	G	C	18	49590489	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.63996663178372E-4	0.026
18	47116859	G	T	18	49590489	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.96068114535109E-4	0.048
18	47116860	G	A	18	49590490	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	5.23511435126487E-5	0.074
18	47116860	G	C	18	49590490	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.5848220013528E-5	0.004
18	47116860	G	T	18	49590490	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	4.20205207055138E-5	0.022
18	47116861	T	A	18	49590491	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.954736533118996	0.702
18	47116861	T	C	18	49590491	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00389624283812408	0.098
18	47116861	T	G	18	49590491	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.239824533318567	0.498
18	47116862	T	A	18	49590492	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0353168134556151	0.372
18	47116862	T	C	18	49590492	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.82967308622868E-4	0.016
18	47116862	T	G	18	49590492	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.010879913312769	0.36
18	47116863	T	A	18	49590493	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0643790306226449	0.262
18	47116863	T	C	18	49590493	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.99658472379663E-5	0.0
18	47116863	T	G	18	49590493	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00256010096666324	0.1
18	47116864	C	A	18	49590494	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.00418257474554138	0.1
18	47116864	C	G	18	49590494	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.33094902127613E-4	0.054
18	47116864	C	T	18	49590494	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	1.63819424676214E-5	0.0
18	47116865	T	A	18	49590495	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.717927717230211	0.544
18	47116865	T	C	18	49590495	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	3.54963509210635E-4	0.036
18	47116865	T	G	18	49590495	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.882920496365767	0.586
18	47116866	T	A	18	49590496	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.955854012629478	0.614
18	47116866	T	C	18	49590496	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.0901048498474323	0.262
18	47116866	T	G	18	49590496	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.974639273845164	0.65
18	47116867	T	A	18	49590497	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.11180341758453E-5	0.006
18	47116867	T	C	18	49590497	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	2.98601728859126E-5	0.006
18	47116867	T	G	18	49590497	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	6.54514238637973E-5	0.054
18	47116868	C	A	18	49590498	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.951242580894633	0.832
18	47116868	C	G	18	49590498	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	0.999826696830921	0.918
18	47116868	C	T	18	49590498	y	y	intronic	LIPG	.	.	intronic	ENSG00000101670	.	.	8.19090853499534E-4	0.108
18	47116869	A	C	18	49590499	y	y	splicing	LIPG(NM_006033:exon10:c.1482-2A>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon10:c.1482-2A>C;ENST00000427224:exon9:c.1260-2A>C)	.	.	0.999931658812138	0.792
18	47116869	A	G	18	49590499	y	y	splicing	LIPG(NM_006033:exon10:c.1482-2A>G)	.	.	splicing	ENSG00000101670(ENST00000261292:exon10:c.1482-2A>G;ENST00000427224:exon9:c.1260-2A>G)	.	.	0.999931658812138	0.79
18	47116869	A	T	18	49590499	y	y	splicing	LIPG(NM_006033:exon10:c.1482-2A>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon10:c.1482-2A>T;ENST00000427224:exon9:c.1260-2A>T)	.	.	0.999871793741964	0.806
18	47116870	G	A	18	49590500	y	y	splicing	LIPG(NM_006033:exon10:c.1482-1G>A)	.	.	splicing	ENSG00000101670(ENST00000261292:exon10:c.1482-1G>A;ENST00000427224:exon9:c.1260-1G>A)	.	.	0.999957897063701	0.904
18	47116870	G	C	18	49590500	y	y	splicing	LIPG(NM_006033:exon10:c.1482-1G>C)	.	.	splicing	ENSG00000101670(ENST00000261292:exon10:c.1482-1G>C;ENST00000427224:exon9:c.1260-1G>C)	.	.	0.999952286258862	0.868
18	47116870	G	T	18	49590500	y	y	splicing	LIPG(NM_006033:exon10:c.1482-1G>T)	.	.	splicing	ENSG00000101670(ENST00000261292:exon10:c.1482-1G>T;ENST00000427224:exon9:c.1260-1G>T)	.	.	0.999956785519844	0.878
18	47116871	T	A	18	49590501	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon10:c.T1482A:p.S494R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon10:c.T1482A:p.S494R;ENSG00000101670:ENST00000427224:exon9:c.T1260A:p.S420R;	4.58601396562738E-5	0.002
18	47116871	T	C	18	49590501	y	y	exonic	LIPG	synonymous SNV	LIPG:NM_006033:exon10:c.T1482C:p.S494S;	exonic	ENSG00000101670	synonymous SNV	ENSG00000101670:ENST00000261292:exon10:c.T1482C:p.S494S;ENSG00000101670:ENST00000427224:exon9:c.T1260C:p.S420S;	4.72613003963602E-4	0.006
18	47116871	T	G	18	49590501	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon10:c.T1482G:p.S494R;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon10:c.T1482G:p.S494R;ENSG00000101670:ENST00000427224:exon9:c.T1260G:p.S420R;	2.14900546695132E-4	0.148
18	47116872	C	A	18	49590502	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon10:c.C1483A:p.P495T;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon10:c.C1483A:p.P495T;ENSG00000101670:ENST00000427224:exon9:c.C1261A:p.P421T;	0.00282732940160547	0.04
18	47116872	C	G	18	49590502	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon10:c.C1483G:p.P495A;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon10:c.C1483G:p.P495A;ENSG00000101670:ENST00000427224:exon9:c.C1261G:p.P421A;	7.24496445145124E-5	0.012
18	47116872	C	T	18	49590502	y	y	exonic	LIPG	nonsynonymous SNV	LIPG:NM_006033:exon10:c.C1483T:p.P495S;	exonic	ENSG00000101670	nonsynonymous SNV	ENSG00000101670:ENST00000261292:exon10:c.C1483T:p.P495S;ENSG00000101670:ENST00000427224:exon9:c.C1261T:p.P421S;	2.44512650422032E-4	0.008
18	47310300	G	A	18	49783930	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon10:c.C1111T:p.R371C;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon10:c.C1111T:p.R371C;ENSG00000167315:ENST00000587994:exon10:c.C1102T:p.R368C;ENSG00000167315:ENST00000589432:exon10:c.C946T:p.R316C;	0.975945835584243	0.81
18	47310300	G	C	18	49783930	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon10:c.C1111G:p.R371G;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon10:c.C1111G:p.R371G;ENSG00000167315:ENST00000587994:exon10:c.C1102G:p.R368G;ENSG00000167315:ENST00000589432:exon10:c.C946G:p.R316G;	0.987195482876093	0.696
18	47310300	G	T	18	49783930	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon10:c.C1111A:p.R371S;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon10:c.C1111A:p.R371S;ENSG00000167315:ENST00000587994:exon10:c.C1102A:p.R368S;ENSG00000167315:ENST00000589432:exon10:c.C946A:p.R316S;	0.992602197538525	0.744
18	47310301	C	A	18	49783931	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon10:c.G1110T:p.R370S;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon10:c.G1110T:p.R370S;ENSG00000167315:ENST00000587994:exon10:c.G1101T:p.R367S;ENSG00000167315:ENST00000589432:exon10:c.G945T:p.R315S;	0.0787929173869973	0.36
18	47310301	C	G	18	49783931	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon10:c.G1110C:p.R370S;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon10:c.G1110C:p.R370S;ENSG00000167315:ENST00000587994:exon10:c.G1101C:p.R367S;ENSG00000167315:ENST00000589432:exon10:c.G945C:p.R315S;	0.00432111156544048	0.248
18	47310301	C	T	18	49783931	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon10:c.G1110A:p.R370R;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon10:c.G1110A:p.R370R;ENSG00000167315:ENST00000587994:exon10:c.G1101A:p.R367R;ENSG00000167315:ENST00000589432:exon10:c.G945A:p.R315R;	6.2260665671697E-4	0.162
18	47310302	C	A	18	49783932	y	y	splicing	ACAA2(NM_006111:exon11:c.1110-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon11:c.1110-1G>T;ENST00000589432:exon11:c.945-1G>T;ENST00000587994:exon11:c.1101-1G>T)	.	.	0.99995545544995	0.934
18	47310302	C	G	18	49783932	y	y	splicing	ACAA2(NM_006111:exon11:c.1110-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon11:c.1110-1G>C;ENST00000589432:exon11:c.945-1G>C;ENST00000587994:exon11:c.1101-1G>C)	.	.	0.99995545544995	0.944
18	47310302	C	T	18	49783932	y	y	splicing	ACAA2(NM_006111:exon11:c.1110-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon11:c.1110-1G>A;ENST00000589432:exon11:c.945-1G>A;ENST00000587994:exon11:c.1101-1G>A)	.	.	0.99995545544995	0.928
18	47310303	T	A	18	49783933	y	y	splicing	ACAA2(NM_006111:exon11:c.1110-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon11:c.1110-2A>T;ENST00000589432:exon11:c.945-2A>T;ENST00000587994:exon11:c.1101-2A>T)	.	.	0.99994568797423	0.944
18	47310303	T	C	18	49783933	y	y	splicing	ACAA2(NM_006111:exon11:c.1110-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon11:c.1110-2A>G;ENST00000589432:exon11:c.945-2A>G;ENST00000587994:exon11:c.1101-2A>G)	.	.	0.99994568797423	0.948
18	47310303	T	G	18	49783933	y	y	splicing	ACAA2(NM_006111:exon11:c.1110-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon11:c.1110-2A>C;ENST00000589432:exon11:c.945-2A>C;ENST00000587994:exon11:c.1101-2A>C)	.	.	0.99994568797423	0.948
18	47310304	G	A	18	49783934	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.86932767841869E-4	0.004
18	47310304	G	C	18	49783934	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.911021102354885	0.612
18	47310304	G	T	18	49783934	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0855151792547035	0.304
18	47310305	A	C	18	49783935	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.98222558362927E-5	0.0
18	47310305	A	G	18	49783935	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.23466911864672E-4	0.002
18	47310305	A	T	18	49783935	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	7.2093164960852E-5	0.0
18	47310306	A	C	18	49783936	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00549707859471608	0.226
18	47310306	A	G	18	49783936	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	6.76411995098523E-5	0.004
18	47310306	A	T	18	49783936	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0032603892028192	0.146
18	47310307	A	C	18	49783937	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.015224430157273	0.09
18	47310307	A	G	18	49783937	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.08282352713785E-4	0.008
18	47310307	A	T	18	49783937	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0226718309874759	0.122
18	47310308	A	C	18	49783938	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.44940703485027E-4	0.046
18	47310308	A	G	18	49783938	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.03521481578192E-5	0.0
18	47310308	A	T	18	49783938	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.06672086760056E-4	0.068
18	47310309	A	C	18	49783939	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00119093324506484	0.06
18	47310309	A	G	18	49783939	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00108571039507716	0.008
18	47310309	A	T	18	49783939	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00360039765262336	0.112
18	47310310	G	A	18	49783940	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.85453517146687E-4	0.04
18	47310310	G	C	18	49783940	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00181341426811863	0.024
18	47310310	G	T	18	49783940	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00211879159234466	0.044
18	47310311	A	C	18	49783941	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.24928822559629E-4	0.042
18	47310311	A	G	18	49783941	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	7.52062439355968E-5	0.0
18	47310311	A	T	18	49783941	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	6.72885342097017E-4	0.028
18	47310312	A	C	18	49783942	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00553273276070603	0.262
18	47310312	A	G	18	49783942	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00416117800498495	0.07
18	47310312	A	T	18	49783942	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0113173856624345	0.252
18	47310313	A	C	18	49783943	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00114125159241609	0.082
18	47310313	A	G	18	49783943	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.58989525664356E-4	0.004
18	47310313	A	T	18	49783943	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00290131300200381	0.144
18	47311559	G	A	18	49785189	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.33925482258474E-4	0.008
18	47311559	G	C	18	49785189	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00148874940780742	0.196
18	47311559	G	T	18	49785189	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	6.51062133475531E-4	0.144
18	47311560	C	A	18	49785190	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.01014823310146	0.094
18	47311560	C	G	18	49785190	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0128917858505233	0.048
18	47311560	C	T	18	49785190	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0128917858505233	0.048
18	47311561	A	C	18	49785191	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.75283635652201E-4	0.234
18	47311561	A	G	18	49785191	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00716969616549512	0.286
18	47311561	A	T	18	49785191	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00645471488711412	0.186
18	47311562	A	C	18	49785192	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.57503315738112E-4	0.088
18	47311562	A	G	18	49785192	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.26488839376064E-4	0.022
18	47311562	A	T	18	49785192	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.16458139576533E-4	0.046
18	47311563	A	C	18	49785193	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.55673883855766E-4	0.02
18	47311563	A	G	18	49785193	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.47446800339613E-4	0.062
18	47311563	A	T	18	49785193	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.02340163002587E-4	0.024
18	47311564	T	A	18	49785194	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.997311647377359	0.958
18	47311564	T	C	18	49785194	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999637154670442	0.932
18	47311564	T	G	18	49785194	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999959488080172	0.96
18	47311565	A	C	18	49785195	y	y	splicing	ACAA2(NM_006111:exon10:c.1109+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.1109+2T>G;ENST00000589432:exon10:c.944+2T>G;ENST00000587994:exon10:c.1100+2T>G)	.	.	0.999988247793601	0.944
18	47311565	A	G	18	49785195	y	y	splicing	ACAA2(NM_006111:exon10:c.1109+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.1109+2T>C;ENST00000589432:exon10:c.944+2T>C;ENST00000587994:exon10:c.1100+2T>C)	.	.	0.99340600729494	0.658
18	47311565	A	T	18	49785195	y	y	splicing	ACAA2(NM_006111:exon10:c.1109+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.1109+2T>A;ENST00000589432:exon10:c.944+2T>A;ENST00000587994:exon10:c.1100+2T>A)	.	.	0.999988247793601	0.944
18	47311566	C	A	18	49785196	y	y	splicing	ACAA2(NM_006111:exon10:c.1109+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.1109+1G>T;ENST00000589432:exon10:c.944+1G>T;ENST00000587994:exon10:c.1100+1G>T)	.	.	0.999985532734767	0.944
18	47311566	C	G	18	49785196	y	y	splicing	ACAA2(NM_006111:exon10:c.1109+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.1109+1G>C;ENST00000589432:exon10:c.944+1G>C;ENST00000587994:exon10:c.1100+1G>C)	.	.	0.999985532734767	0.944
18	47311566	C	T	18	49785196	y	y	splicing	ACAA2(NM_006111:exon10:c.1109+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.1109+1G>A;ENST00000589432:exon10:c.944+1G>A;ENST00000587994:exon10:c.1100+1G>A)	.	.	0.999985532734767	0.944
18	47311567	C	A	18	49785197	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.G1109T:p.R370M;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.G1109T:p.R370M;ENSG00000167315:ENST00000587994:exon9:c.G1100T:p.R367M;ENSG00000167315:ENST00000589432:exon9:c.G944T:p.R315M;	0.999992895158708	1.0
18	47311567	C	G	18	49785197	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.G1109C:p.R370T;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.G1109C:p.R370T;ENSG00000167315:ENST00000587994:exon9:c.G1100C:p.R367T;ENSG00000167315:ENST00000589432:exon9:c.G944C:p.R315T;	0.999997269335704	1.0
18	47311567	C	T	18	49785197	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.G1109A:p.R370K;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.G1109A:p.R370K;ENSG00000167315:ENST00000587994:exon9:c.G1100A:p.R367K;ENSG00000167315:ENST00000589432:exon9:c.G944A:p.R315K;	0.999983438091062	0.932
18	47311568	T	A	18	49785198	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.A1108T:p.R370W;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.A1108T:p.R370W;ENSG00000167315:ENST00000587994:exon9:c.A1099T:p.R367W;ENSG00000167315:ENST00000589432:exon9:c.A943T:p.R315W;	0.998984427717403	0.92
18	47311568	T	C	18	49785198	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.A1108G:p.R370G;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.A1108G:p.R370G;ENSG00000167315:ENST00000587994:exon9:c.A1099G:p.R367G;ENSG00000167315:ENST00000589432:exon9:c.A943G:p.R315G;	0.995017117825241	0.9
18	47311568	T	G	18	49785198	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon9:c.A1108C:p.R370R;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.A1108C:p.R370R;ENSG00000167315:ENST00000587994:exon9:c.A1099C:p.R367R;ENSG00000167315:ENST00000589432:exon9:c.A943C:p.R315R;	0.985165166986914	0.836
18	47311569	T	A	18	49785199	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.A1107T:p.L369F;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.A1107T:p.L369F;ENSG00000167315:ENST00000587994:exon9:c.A1098T:p.L366F;ENSG00000167315:ENST00000589432:exon9:c.A942T:p.L314F;	0.773907310299154	0.628
18	47311569	T	C	18	49785199	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon9:c.A1107G:p.L369L;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.A1107G:p.L369L;ENSG00000167315:ENST00000587994:exon9:c.A1098G:p.L366L;ENSG00000167315:ENST00000589432:exon9:c.A942G:p.L314L;	2.94788905005849E-4	0.064
18	47311569	T	G	18	49785199	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.A1107C:p.L369F;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.A1107C:p.L369F;ENSG00000167315:ENST00000587994:exon9:c.A1098C:p.L366F;ENSG00000167315:ENST00000589432:exon9:c.A942C:p.L314F;	0.0114339308965799	0.096
18	47311720	A	C	18	49785350	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.T956G:p.V319G;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.T956G:p.V319G;ENSG00000167315:ENST00000587994:exon9:c.T947G:p.V316G;ENSG00000167315:ENST00000589432:exon9:c.T791G:p.V264G;	0.442671715901298	0.55
18	47311720	A	G	18	49785350	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.T956C:p.V319A;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.T956C:p.V319A;ENSG00000167315:ENST00000587994:exon9:c.T947C:p.V316A;ENSG00000167315:ENST00000589432:exon9:c.T791C:p.V264A;	0.337999450156076	0.354
18	47311720	A	T	18	49785350	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.T956A:p.V319E;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.T956A:p.V319E;ENSG00000167315:ENST00000587994:exon9:c.T947A:p.V316E;ENSG00000167315:ENST00000589432:exon9:c.T791A:p.V264E;	0.516116204408926	0.562
18	47311721	C	A	18	49785351	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.G955T:p.V319L;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.G955T:p.V319L;ENSG00000167315:ENST00000587994:exon9:c.G946T:p.V316L;ENSG00000167315:ENST00000589432:exon9:c.G790T:p.V264L;	0.999914886403865	0.998
18	47311721	C	G	18	49785351	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.G955C:p.V319L;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.G955C:p.V319L;ENSG00000167315:ENST00000587994:exon9:c.G946C:p.V316L;ENSG00000167315:ENST00000589432:exon9:c.G790C:p.V264L;	0.999740696368795	0.992
18	47311721	C	T	18	49785351	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon9:c.G955A:p.V319M;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon9:c.G955A:p.V319M;ENSG00000167315:ENST00000587994:exon9:c.G946A:p.V316M;ENSG00000167315:ENST00000589432:exon9:c.G790A:p.V264M;	0.99844731292729	0.916
18	47311722	C	A	18	49785352	y	y	splicing	ACAA2(NM_006111:exon10:c.955-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.955-1G>T;ENST00000589432:exon10:c.790-1G>T;ENST00000587994:exon10:c.946-1G>T)	.	.	0.999985532734767	0.936
18	47311722	C	G	18	49785352	y	y	splicing	ACAA2(NM_006111:exon10:c.955-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.955-1G>C;ENST00000589432:exon10:c.790-1G>C;ENST00000587994:exon10:c.946-1G>C)	.	.	0.999985532734767	0.936
18	47311722	C	T	18	49785352	y	y	splicing	ACAA2(NM_006111:exon10:c.955-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.955-1G>A;ENST00000589432:exon10:c.790-1G>A;ENST00000587994:exon10:c.946-1G>A)	.	.	0.999985532734767	0.936
18	47311723	T	A	18	49785353	y	y	splicing	ACAA2(NM_006111:exon10:c.955-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.955-2A>T;ENST00000589432:exon10:c.790-2A>T;ENST00000587994:exon10:c.946-2A>T)	.	.	0.999989917668626	0.928
18	47311723	T	C	18	49785353	y	y	splicing	ACAA2(NM_006111:exon10:c.955-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.955-2A>G;ENST00000589432:exon10:c.790-2A>G;ENST00000587994:exon10:c.946-2A>G)	.	.	0.999989917668626	0.926
18	47311723	T	G	18	49785353	y	y	splicing	ACAA2(NM_006111:exon10:c.955-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon10:c.955-2A>C;ENST00000589432:exon10:c.790-2A>C;ENST00000587994:exon10:c.946-2A>C)	.	.	0.999989917668626	0.926
18	47311724	T	A	18	49785354	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.79891849761677E-5	0.002
18	47311724	T	C	18	49785354	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0171323870213455	0.404
18	47311724	T	G	18	49785354	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.61040010098644E-5	0.012
18	47311725	A	C	18	49785355	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00616587913480586	0.146
18	47311725	A	G	18	49785355	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.62230383616828E-5	0.002
18	47311725	A	T	18	49785355	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.10493146847077E-5	0.004
18	47311726	A	C	18	49785356	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.970378332518178	0.416
18	47311726	A	G	18	49785356	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	7.55959646737004E-4	0.016
18	47311726	A	T	18	49785356	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.693476922157142	0.34
18	47311727	A	C	18	49785357	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0184572255971594	0.162
18	47311727	A	G	18	49785357	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.84018566985883E-5	0.002
18	47311727	A	T	18	49785357	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0167870364445551	0.158
18	47311728	A	C	18	49785358	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.241402390513069	0.25
18	47311728	A	G	18	49785358	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.55742202027087E-4	0.004
18	47311728	A	T	18	49785358	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.502652197249593	0.384
18	47311729	C	A	18	49785359	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.28906923214587E-5	0.0
18	47311729	C	G	18	49785359	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.26468885856688E-5	0.0
18	47311729	C	T	18	49785359	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.04184403643805E-4	0.0
18	47311730	A	C	18	49785360	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0444313039322634	0.21
18	47311730	A	G	18	49785360	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.45310158450983E-4	0.02
18	47311730	A	T	18	49785360	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.99995513272598	0.988
18	47311731	A	C	18	49785361	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0105244108419885	0.158
18	47311731	A	G	18	49785361	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.5865302233552E-5	0.002
18	47311731	A	T	18	49785361	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00215598363156854	0.11
18	47311732	A	C	18	49785362	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.650001421719507	0.536
18	47311732	A	G	18	49785362	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0484663697425366	0.236
18	47311732	A	T	18	49785362	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.72788286454605	0.524
18	47311733	A	C	18	49785363	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00207263563561085	0.38
18	47311733	A	G	18	49785363	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.28368717777363E-5	0.01
18	47311733	A	T	18	49785363	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00627579499976108	0.426
18	47313653	A	C	18	49787283	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.18551054981151E-5	0.0
18	47313653	A	G	18	49787283	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.63435283021913E-5	0.002
18	47313653	A	T	18	49787283	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.18551054981151E-5	0.0
18	47313654	C	A	18	49787284	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.42005417025298E-5	0.0
18	47313654	C	G	18	49787284	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.42005417025298E-5	0.002
18	47313654	C	T	18	49787284	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.42005417025298E-5	0.0
18	47313655	A	C	18	49787285	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	8.91748709291747E-5	0.032
18	47313655	A	G	18	49787285	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00182674695328617	0.07
18	47313655	A	T	18	49787285	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	7.72170525697423E-4	0.07
18	47313656	C	A	18	49787286	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.618565484508237	0.49
18	47313656	C	G	18	49787286	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.73344723300758	0.486
18	47313656	C	T	18	49787286	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.74129570681527	0.494
18	47313657	T	A	18	49787287	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0478920147108573	0.178
18	47313657	T	C	18	49787287	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.201104509232405	0.294
18	47313657	T	G	18	49787287	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0436066485581011	0.236
18	47313658	T	A	18	49787288	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.175274116037358	0.382
18	47313658	T	C	18	49787288	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.91035324017992E-4	0.004
18	47313658	T	G	18	49787288	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.123566366010765	0.382
18	47313659	A	C	18	49787289	y	y	splicing	ACAA2(NM_006111:exon9:c.954+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.954+2T>G;ENST00000589432:exon9:c.789+2T>G;ENST00000587994:exon9:c.945+2T>G)	.	.	0.999988247793601	0.932
18	47313659	A	G	18	49787289	y	y	splicing	ACAA2(NM_006111:exon9:c.954+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.954+2T>C;ENST00000589432:exon9:c.789+2T>C;ENST00000587994:exon9:c.945+2T>C)	.	.	0.992783534660112	0.69
18	47313659	A	T	18	49787289	y	y	splicing	ACAA2(NM_006111:exon9:c.954+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.954+2T>A;ENST00000589432:exon9:c.789+2T>A;ENST00000587994:exon9:c.945+2T>A)	.	.	0.999988247793601	0.932
18	47313660	C	A	18	49787290	y	y	splicing	ACAA2(NM_006111:exon9:c.954+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.954+1G>T;ENST00000589432:exon9:c.789+1G>T;ENST00000587994:exon9:c.945+1G>T)	.	.	0.999990361384395	0.938
18	47313660	C	G	18	49787290	y	y	splicing	ACAA2(NM_006111:exon9:c.954+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.954+1G>C;ENST00000589432:exon9:c.789+1G>C;ENST00000587994:exon9:c.945+1G>C)	.	.	0.999990361384395	0.938
18	47313660	C	T	18	49787290	y	y	splicing	ACAA2(NM_006111:exon9:c.954+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.954+1G>A;ENST00000589432:exon9:c.789+1G>A;ENST00000587994:exon9:c.945+1G>A)	.	.	0.999990361384395	0.938
18	47313661	C	A	18	49787291	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.G954T:p.E318D;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.G954T:p.E318D;ENSG00000167315:ENST00000587994:exon8:c.G945T:p.E315D;ENSG00000167315:ENST00000589432:exon8:c.G789T:p.E263D;	0.846754868020719	0.452
18	47313661	C	G	18	49787291	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.G954C:p.E318D;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.G954C:p.E318D;ENSG00000167315:ENST00000587994:exon8:c.G945C:p.E315D;ENSG00000167315:ENST00000589432:exon8:c.G789C:p.E263D;	0.918788245923045	0.568
18	47313661	C	T	18	49787291	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon8:c.G954A:p.E318E;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.G954A:p.E318E;ENSG00000167315:ENST00000587994:exon8:c.G945A:p.E315E;ENSG00000167315:ENST00000589432:exon8:c.G789A:p.E263E;	0.0685692561723846	0.234
18	47313662	T	A	18	49787292	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.A953T:p.E318V;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.A953T:p.E318V;ENSG00000167315:ENST00000587994:exon8:c.A944T:p.E315V;ENSG00000167315:ENST00000589432:exon8:c.A788T:p.E263V;	0.990278694703747	0.584
18	47313662	T	C	18	49787292	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.A953G:p.E318G;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.A953G:p.E318G;ENSG00000167315:ENST00000587994:exon8:c.A944G:p.E315G;ENSG00000167315:ENST00000589432:exon8:c.A788G:p.E263G;	0.992243631099655	0.876
18	47313662	T	G	18	49787292	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.A953C:p.E318A;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.A953C:p.E318A;ENSG00000167315:ENST00000587994:exon8:c.A944C:p.E315A;ENSG00000167315:ENST00000589432:exon8:c.A788C:p.E263A;	0.990878469206079	0.704
18	47313663	C	A	18	49787293	y	y	exonic	ACAA2	stopgain SNV	ACAA2:NM_006111:exon8:c.G952T:p.E318X;	exonic	ENSG00000167315	stopgain SNV	ENSG00000167315:ENST00000285093:exon8:c.G952T:p.E318X;ENSG00000167315:ENST00000587994:exon8:c.G943T:p.E315X;ENSG00000167315:ENST00000589432:exon8:c.G787T:p.E263X;	0.990674316215252	0.866
18	47313663	C	G	18	49787293	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.G952C:p.E318Q;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.G952C:p.E318Q;ENSG00000167315:ENST00000587994:exon8:c.G943C:p.E315Q;ENSG00000167315:ENST00000589432:exon8:c.G787C:p.E263Q;	0.97145887165085	0.79
18	47313663	C	T	18	49787293	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.G952A:p.E318K;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.G952A:p.E318K;ENSG00000167315:ENST00000587994:exon8:c.G943A:p.E315K;ENSG00000167315:ENST00000589432:exon8:c.G787A:p.E263K;	0.97145887165085	0.844
18	47313730	A	C	18	49787360	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon8:c.T885G:p.G295G;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.T885G:p.G295G;ENSG00000167315:ENST00000587994:exon8:c.T876G:p.G292G;ENSG00000167315:ENST00000589432:exon8:c.T720G:p.G240G;	9.51957433402335E-4	0.058
18	47313730	A	G	18	49787360	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon8:c.T885C:p.G295G;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.T885C:p.G295G;ENSG00000167315:ENST00000587994:exon8:c.T876C:p.G292G;ENSG00000167315:ENST00000589432:exon8:c.T720C:p.G240G;	9.51957433402335E-4	0.076
18	47313730	A	T	18	49787360	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon8:c.T885A:p.G295G;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.T885A:p.G295G;ENSG00000167315:ENST00000587994:exon8:c.T876A:p.G292G;ENSG00000167315:ENST00000589432:exon8:c.T720A:p.G240G;	4.66699092147104E-4	0.304
18	47313731	C	A	18	49787361	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.G884T:p.G295V;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.G884T:p.G295V;ENSG00000167315:ENST00000587994:exon8:c.G875T:p.G292V;ENSG00000167315:ENST00000589432:exon8:c.G719T:p.G240V;	0.998926972739807	0.976
18	47313731	C	G	18	49787361	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.G884C:p.G295A;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.G884C:p.G295A;ENSG00000167315:ENST00000587994:exon8:c.G875C:p.G292A;ENSG00000167315:ENST00000589432:exon8:c.G719C:p.G240A;	0.99802059688389	0.966
18	47313731	C	T	18	49787361	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon8:c.G884A:p.G295D;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon8:c.G884A:p.G295D;ENSG00000167315:ENST00000587994:exon8:c.G875A:p.G292D;ENSG00000167315:ENST00000589432:exon8:c.G719A:p.G240D;	0.733935684400955	0.61
18	47313732	C	A	18	49787362	y	y	splicing	ACAA2(NM_006111:exon9:c.884-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.884-1G>T;ENST00000589432:exon9:c.719-1G>T;ENST00000587994:exon9:c.875-1G>T)	.	.	0.999990361384395	0.938
18	47313732	C	G	18	49787362	y	y	splicing	ACAA2(NM_006111:exon9:c.884-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.884-1G>C;ENST00000589432:exon9:c.719-1G>C;ENST00000587994:exon9:c.875-1G>C)	.	.	0.999990361384395	0.938
18	47313732	C	T	18	49787362	y	y	splicing	ACAA2(NM_006111:exon9:c.884-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.884-1G>A;ENST00000589432:exon9:c.719-1G>A;ENST00000587994:exon9:c.875-1G>A)	.	.	0.999990361384395	0.938
18	47313733	T	A	18	49787363	y	y	splicing	ACAA2(NM_006111:exon9:c.884-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.884-2A>T;ENST00000589432:exon9:c.719-2A>T;ENST00000587994:exon9:c.875-2A>T)	.	.	0.99994568797423	0.93
18	47313733	T	C	18	49787363	y	y	splicing	ACAA2(NM_006111:exon9:c.884-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.884-2A>G;ENST00000589432:exon9:c.719-2A>G;ENST00000587994:exon9:c.875-2A>G)	.	.	0.99994568797423	0.934
18	47313733	T	G	18	49787363	y	y	splicing	ACAA2(NM_006111:exon9:c.884-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon9:c.884-2A>C;ENST00000589432:exon9:c.719-2A>C;ENST00000587994:exon9:c.875-2A>C)	.	.	0.99994568797423	0.934
18	47313734	A	C	18	49787364	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.85273732076592	0.638
18	47313734	A	G	18	49787364	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.06905712786506E-5	0.0
18	47313734	A	T	18	49787364	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.72139522824536E-4	0.144
18	47313735	T	A	18	49787365	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.18169201910645E-4	0.0
18	47313735	T	C	18	49787365	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.65150653834359E-4	0.002
18	47313735	T	G	18	49787365	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	6.60200544071024E-5	0.004
18	47313736	A	C	18	49787366	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999956650567571	0.946
18	47313736	A	G	18	49787366	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.48615905309927E-4	0.06
18	47313736	A	T	18	49787366	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.309777368288953	0.504
18	47313737	T	A	18	49787367	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.18839973506381E-5	0.002
18	47313737	T	C	18	49787367	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.67955279249784E-5	0.0
18	47313737	T	G	18	49787367	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.95076949036759E-5	0.014
18	47313738	A	C	18	49787368	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00331426865874088	0.066
18	47313738	A	G	18	49787368	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	8.0600062419242E-5	0.0
18	47313738	A	T	18	49787368	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00302981579476889	0.028
18	47313739	A	C	18	49787369	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999621684103012	0.982
18	47313739	A	G	18	49787369	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.42610577198392E-5	0.0
18	47313739	A	T	18	49787369	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0105677095686722	0.068
18	47313740	T	A	18	49787370	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.16184759152796E-5	0.02
18	47313740	T	C	18	49787370	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.10714243611774E-4	0.044
18	47313740	T	G	18	49787370	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.95302723764009E-5	0.02
18	47313741	A	C	18	49787371	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.128200143353991	0.398
18	47313741	A	G	18	49787371	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.08160039014652E-5	0.028
18	47313741	A	T	18	49787371	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.864912234064815	0.564
18	47313742	A	C	18	49787372	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999858824399278	0.976
18	47313742	A	G	18	49787372	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.122379291544426	0.396
18	47313742	A	T	18	49787372	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.977022533206221	0.77
18	47313743	T	A	18	49787373	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.71221538551577E-5	0.088
18	47313743	T	C	18	49787373	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.86749897820786E-5	0.066
18	47313743	T	G	18	49787373	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.50569419898856E-5	0.044
18	47317832	A	C	18	49791462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.17564447662592E-4	0.01
18	47317832	A	G	18	49791462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.17564447662592E-4	0.01
18	47317832	A	T	18	49791462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	6.46844991217429E-5	0.01
18	47317833	A	C	18	49791463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.42163283054492E-4	0.012
18	47317833	A	G	18	49791463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.3660413354931E-4	0.01
18	47317833	A	T	18	49791463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.55232293977891E-4	0.006
18	47317834	A	C	18	49791464	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.889346124581367	0.672
18	47317834	A	G	18	49791464	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.876514178178326	0.716
18	47317834	A	T	18	49791464	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.963536230217155	0.742
18	47317835	C	A	18	49791465	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999844640947372	0.9
18	47317835	C	G	18	49791465	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999514504494958	0.926
18	47317835	C	T	18	49791465	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999566709039913	0.978
18	47317836	T	A	18	49791466	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.994582268604078	0.868
18	47317836	T	C	18	49791466	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.993020316653418	0.91
18	47317836	T	G	18	49791466	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.998301221517265	0.914
18	47317837	T	A	18	49791467	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.990803811923558	0.834
18	47317837	T	C	18	49791467	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0141966530896165	0.152
18	47317837	T	G	18	49791467	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.990521050928411	0.922
18	47317838	A	C	18	49791468	y	y	splicing	ACAA2(NM_006111:exon8:c.883+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.883+2T>G;ENST00000589432:exon8:c.718+2T>G;ENST00000587994:exon8:c.874+2T>G)	.	.	0.999988247793601	0.93
18	47317838	A	G	18	49791468	y	y	splicing	ACAA2(NM_006111:exon8:c.883+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.883+2T>C;ENST00000589432:exon8:c.718+2T>C;ENST00000587994:exon8:c.874+2T>C)	.	.	0.995320650369382	0.71
18	47317838	A	T	18	49791468	y	y	splicing	ACAA2(NM_006111:exon8:c.883+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.883+2T>A;ENST00000589432:exon8:c.718+2T>A;ENST00000587994:exon8:c.874+2T>A)	.	.	0.999988247793601	0.93
18	47317839	C	A	18	49791469	y	y	splicing	ACAA2(NM_006111:exon8:c.883+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.883+1G>T;ENST00000589432:exon8:c.718+1G>T;ENST00000587994:exon8:c.874+1G>T)	.	.	0.999990361384395	0.938
18	47317839	C	G	18	49791469	y	y	splicing	ACAA2(NM_006111:exon8:c.883+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.883+1G>C;ENST00000589432:exon8:c.718+1G>C;ENST00000587994:exon8:c.874+1G>C)	.	.	0.999990361384395	0.938
18	47317839	C	T	18	49791469	y	y	splicing	ACAA2(NM_006111:exon8:c.883+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.883+1G>A;ENST00000589432:exon8:c.718+1G>A;ENST00000587994:exon8:c.874+1G>A)	.	.	0.999990361384395	0.938
18	47317840	C	A	18	49791470	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G883T:p.G295C;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G883T:p.G295C;ENSG00000167315:ENST00000587994:exon7:c.G874T:p.G292C;ENSG00000167315:ENST00000589432:exon7:c.G718T:p.G240C;	0.999894098070769	0.778
18	47317840	C	G	18	49791470	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G883C:p.G295R;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G883C:p.G295R;ENSG00000167315:ENST00000587994:exon7:c.G874C:p.G292R;ENSG00000167315:ENST00000589432:exon7:c.G718C:p.G240R;	0.999968083139713	0.986
18	47317840	C	T	18	49791470	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G883A:p.G295S;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G883A:p.G295S;ENSG00000167315:ENST00000587994:exon7:c.G874A:p.G292S;ENSG00000167315:ENST00000589432:exon7:c.G718A:p.G240S;	0.999960454204918	0.994
18	47317841	A	C	18	49791471	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.T882G:p.I294M;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.T882G:p.I294M;ENSG00000167315:ENST00000587994:exon7:c.T873G:p.I291M;ENSG00000167315:ENST00000589432:exon7:c.T717G:p.I239M;	5.30276600626626E-4	0.15
18	47317841	A	G	18	49791471	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon7:c.T882C:p.I294I;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.T882C:p.I294I;ENSG00000167315:ENST00000587994:exon7:c.T873C:p.I291I;ENSG00000167315:ENST00000589432:exon7:c.T717C:p.I239I;	4.19123945568444E-4	0.006
18	47317841	A	T	18	49791471	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon7:c.T882A:p.I294I;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.T882A:p.I294I;ENSG00000167315:ENST00000587994:exon7:c.T873A:p.I291I;ENSG00000167315:ENST00000589432:exon7:c.T717A:p.I239I;	4.49509741862834E-4	0.128
18	47317842	A	C	18	49791472	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.T881G:p.I294S;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.T881G:p.I294S;ENSG00000167315:ENST00000587994:exon7:c.T872G:p.I291S;ENSG00000167315:ENST00000589432:exon7:c.T716G:p.I239S;	0.788054595590267	0.794
18	47317842	A	G	18	49791472	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.T881C:p.I294T;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.T881C:p.I294T;ENSG00000167315:ENST00000587994:exon7:c.T872C:p.I291T;ENSG00000167315:ENST00000589432:exon7:c.T716C:p.I239T;	0.669837087943957	0.746
18	47317842	A	T	18	49791472	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.T881A:p.I294N;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.T881A:p.I294N;ENSG00000167315:ENST00000587994:exon7:c.T872A:p.I291N;ENSG00000167315:ENST00000589432:exon7:c.T716A:p.I239N;	0.70136344079109	0.768
18	47317968	C	A	18	49791598	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G755T:p.G252V;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G755T:p.G252V;ENSG00000167315:ENST00000587994:exon7:c.G746T:p.G249V;ENSG00000167315:ENST00000589432:exon7:c.G590T:p.G197V;	0.978476101633645	0.856
18	47317968	C	G	18	49791598	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G755C:p.G252A;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G755C:p.G252A;ENSG00000167315:ENST00000587994:exon7:c.G746C:p.G249A;ENSG00000167315:ENST00000589432:exon7:c.G590C:p.G197A;	0.975229424523522	0.86
18	47317968	C	T	18	49791598	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G755A:p.G252D;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G755A:p.G252D;ENSG00000167315:ENST00000587994:exon7:c.G746A:p.G249D;ENSG00000167315:ENST00000589432:exon7:c.G590A:p.G197D;	0.985264451701993	0.854
18	47317969	C	A	18	49791599	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G754T:p.G252C;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G754T:p.G252C;ENSG00000167315:ENST00000587994:exon7:c.G745T:p.G249C;ENSG00000167315:ENST00000589432:exon7:c.G589T:p.G197C;	0.999903954904972	0.994
18	47317969	C	G	18	49791599	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G754C:p.G252R;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G754C:p.G252R;ENSG00000167315:ENST00000587994:exon7:c.G745C:p.G249R;ENSG00000167315:ENST00000589432:exon7:c.G589C:p.G197R;	0.999852892974577	0.988
18	47317969	C	T	18	49791599	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon7:c.G754A:p.G252S;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon7:c.G754A:p.G252S;ENSG00000167315:ENST00000587994:exon7:c.G745A:p.G249S;ENSG00000167315:ENST00000589432:exon7:c.G589A:p.G197S;	0.99968289324594	0.884
18	47317970	C	A	18	49791600	y	y	splicing	ACAA2(NM_006111:exon8:c.754-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.754-1G>T;ENST00000589432:exon8:c.589-1G>T;ENST00000587994:exon8:c.745-1G>T)	.	.	0.999989072007339	0.934
18	47317970	C	G	18	49791600	y	y	splicing	ACAA2(NM_006111:exon8:c.754-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.754-1G>C;ENST00000589432:exon8:c.589-1G>C;ENST00000587994:exon8:c.745-1G>C)	.	.	0.999989072007339	0.934
18	47317970	C	T	18	49791600	y	y	splicing	ACAA2(NM_006111:exon8:c.754-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.754-1G>A;ENST00000589432:exon8:c.589-1G>A;ENST00000587994:exon8:c.745-1G>A)	.	.	0.999989072007339	0.934
18	47317971	T	A	18	49791601	y	y	splicing	ACAA2(NM_006111:exon8:c.754-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.754-2A>T;ENST00000589432:exon8:c.589-2A>T;ENST00000587994:exon8:c.745-2A>T)	.	.	0.999988247793601	0.93
18	47317971	T	C	18	49791601	y	y	splicing	ACAA2(NM_006111:exon8:c.754-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.754-2A>G;ENST00000589432:exon8:c.589-2A>G;ENST00000587994:exon8:c.745-2A>G)	.	.	0.999988247793601	0.93
18	47317971	T	G	18	49791601	y	y	splicing	ACAA2(NM_006111:exon8:c.754-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon8:c.754-2A>C;ENST00000589432:exon8:c.589-2A>C;ENST00000587994:exon8:c.745-2A>C)	.	.	0.999988247793601	0.93
18	47317972	T	A	18	49791602	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.39079578426075E-4	0.022
18	47317972	T	C	18	49791602	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.521579690149866	0.492
18	47317972	T	G	18	49791602	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.64596896642952E-4	0.044
18	47317973	G	A	18	49791603	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.22547880422251E-4	0.058
18	47317973	G	C	18	49791603	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.05273230706893E-4	0.004
18	47317973	G	T	18	49791603	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	6.042743444288E-5	0.01
18	47317974	A	C	18	49791604	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0375520203330919	0.36
18	47317974	A	G	18	49791604	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00487810929818547	0.232
18	47317974	A	T	18	49791604	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0122605516822587	0.304
18	47317975	A	C	18	49791605	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.22542923787526	0.402
18	47317975	A	G	18	49791605	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00459404253003782	0.162
18	47317975	A	T	18	49791605	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.140499100807101	0.438
18	47317976	A	C	18	49791606	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0110334425331029	0.142
18	47317976	A	G	18	49791606	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.10286822501875E-4	0.072
18	47317976	A	T	18	49791606	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0204265078016986	0.222
18	47317977	A	C	18	49791607	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999897254627164	0.982
18	47317977	A	G	18	49791607	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.28386741480345E-4	0.016
18	47317977	A	T	18	49791607	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00527614853592211	0.146
18	47317978	T	A	18	49791608	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.3783289810299E-5	0.084
18	47317978	T	C	18	49791608	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.72705460745978E-5	0.018
18	47317978	T	G	18	49791608	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.72678705329471E-5	0.078
18	47317979	A	C	18	49791609	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.250975095074489	0.296
18	47317979	A	G	18	49791609	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0157037585247498	0.17
18	47317979	A	T	18	49791609	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.324319910966473	0.344
18	47317980	A	C	18	49791610	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00124398042836051	0.19
18	47317980	A	G	18	49791610	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.26595059382767E-4	0.156
18	47317980	A	T	18	49791610	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00344200546900722	0.394
18	47317981	A	C	18	49791611	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.384273126296973	0.428
18	47317981	A	G	18	49791611	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0706413120836671	0.392
18	47317981	A	T	18	49791611	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.525868069789526	0.476
18	47318514	A	C	18	49792144	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.53266969886655E-5	0.006
18	47318514	A	G	18	49792144	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.05659034617528E-4	0.034
18	47318514	A	T	18	49792144	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.83740033122232E-5	0.02
18	47318515	T	A	18	49792145	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.55315666320165E-4	0.006
18	47318515	T	C	18	49792145	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.78958691012223E-5	0.0
18	47318515	T	G	18	49792145	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.78958691012223E-5	0.0
18	47318516	A	C	18	49792146	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.98541938340083	0.66
18	47318516	A	G	18	49792146	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.993002713757767	0.728
18	47318516	A	T	18	49792146	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.989363066291236	0.674
18	47318517	C	A	18	49792147	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999866204569391	0.898
18	47318517	C	G	18	49792147	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999866204569391	0.928
18	47318517	C	T	18	49792147	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999668268396168	0.894
18	47318518	C	A	18	49792148	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.82206802328434E-5	0.008
18	47318518	C	G	18	49792148	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.46469069250984E-5	0.038
18	47318518	C	T	18	49792148	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.21590702391078E-4	0.034
18	47318519	A	C	18	49792149	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.6480826030521E-5	0.112
18	47318519	A	G	18	49792149	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.69065308024491E-5	0.014
18	47318519	A	T	18	49792149	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	8.43983688261383E-5	0.012
18	47318520	A	C	18	49792150	y	y	splicing	ACAA2(NM_006111:exon7:c.753+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.753+2T>G;ENST00000589432:exon7:c.588+2T>G;ENST00000587994:exon7:c.744+2T>G)	.	.	0.999954785339841	0.918
18	47318520	A	G	18	49792150	y	y	splicing	ACAA2(NM_006111:exon7:c.753+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.753+2T>C;ENST00000589432:exon7:c.588+2T>C;ENST00000587994:exon7:c.744+2T>C)	.	.	0.999365106594929	0.872
18	47318520	A	T	18	49792150	y	y	splicing	ACAA2(NM_006111:exon7:c.753+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.753+2T>A;ENST00000589432:exon7:c.588+2T>A;ENST00000587994:exon7:c.744+2T>A)	.	.	0.999954785339841	0.922
18	47318521	C	A	18	49792151	y	y	splicing	ACAA2(NM_006111:exon7:c.753+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.753+1G>T;ENST00000589432:exon7:c.588+1G>T;ENST00000587994:exon7:c.744+1G>T)	.	.	0.999982627682474	0.904
18	47318521	C	G	18	49792151	y	y	splicing	ACAA2(NM_006111:exon7:c.753+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.753+1G>C;ENST00000589432:exon7:c.588+1G>C;ENST00000587994:exon7:c.744+1G>C)	.	.	0.999982627682474	0.904
18	47318521	C	T	18	49792151	y	y	splicing	ACAA2(NM_006111:exon7:c.753+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.753+1G>A;ENST00000589432:exon7:c.588+1G>A;ENST00000587994:exon7:c.744+1G>A)	.	.	0.999982627682474	0.904
18	47318522	C	A	18	49792152	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon6:c.G753T:p.S251S;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.G753T:p.S251S;ENSG00000167315:ENST00000587994:exon6:c.G744T:p.S248S;ENSG00000167315:ENST00000589432:exon6:c.G588T:p.S196S;	0.999581387533351	0.926
18	47318522	C	G	18	49792152	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon6:c.G753C:p.S251S;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.G753C:p.S251S;ENSG00000167315:ENST00000587994:exon6:c.G744C:p.S248S;ENSG00000167315:ENST00000589432:exon6:c.G588C:p.S196S;	0.99989212061696	0.916
18	47318522	C	T	18	49792152	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon6:c.G753A:p.S251S;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.G753A:p.S251S;ENSG00000167315:ENST00000587994:exon6:c.G744A:p.S248S;ENSG00000167315:ENST00000589432:exon6:c.G588A:p.S196S;	0.999787859449807	0.972
18	47318523	G	A	18	49792153	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.C752T:p.S251L;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.C752T:p.S251L;ENSG00000167315:ENST00000587994:exon6:c.C743T:p.S248L;ENSG00000167315:ENST00000589432:exon6:c.C587T:p.S196L;	0.996197854162238	0.79
18	47318523	G	C	18	49792153	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.C752G:p.S251W;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.C752G:p.S251W;ENSG00000167315:ENST00000587994:exon6:c.C743G:p.S248W;ENSG00000167315:ENST00000589432:exon6:c.C587G:p.S196W;	0.987248780948904	0.684
18	47318523	G	T	18	49792153	y	y	exonic	ACAA2	stopgain SNV	ACAA2:NM_006111:exon6:c.C752A:p.S251X;	exonic	ENSG00000167315	stopgain SNV	ENSG00000167315:ENST00000285093:exon6:c.C752A:p.S251X;ENSG00000167315:ENST00000587994:exon6:c.C743A:p.S248X;ENSG00000167315:ENST00000589432:exon6:c.C587A:p.S196X;	0.981742897368674	0.768
18	47318524	A	C	18	49792154	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.T751G:p.S251A;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.T751G:p.S251A;ENSG00000167315:ENST00000587994:exon6:c.T742G:p.S248A;ENSG00000167315:ENST00000589432:exon6:c.T586G:p.S196A;	0.698281867842763	0.592
18	47318524	A	G	18	49792154	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.T751C:p.S251P;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.T751C:p.S251P;ENSG00000167315:ENST00000587994:exon6:c.T742C:p.S248P;ENSG00000167315:ENST00000589432:exon6:c.T586C:p.S196P;	0.809835865261254	0.668
18	47318524	A	T	18	49792154	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.T751A:p.S251T;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.T751A:p.S251T;ENSG00000167315:ENST00000587994:exon6:c.T742A:p.S248T;ENSG00000167315:ENST00000589432:exon6:c.T586A:p.S196T;	0.809835865261254	0.714
18	47318696	A	C	18	49792326	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon6:c.T579G:p.A193A;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.T579G:p.A193A;ENSG00000167315:ENST00000587994:exon6:c.T570G:p.A190A;ENSG00000167315:ENST00000589432:exon6:c.T414G:p.A138A;	0.00229746251619211	0.052
18	47318696	A	G	18	49792326	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon6:c.T579C:p.A193A;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.T579C:p.A193A;ENSG00000167315:ENST00000587994:exon6:c.T570C:p.A190A;ENSG00000167315:ENST00000589432:exon6:c.T414C:p.A138A;	0.00422377886681995	0.098
18	47318696	A	T	18	49792326	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon6:c.T579A:p.A193A;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.T579A:p.A193A;ENSG00000167315:ENST00000587994:exon6:c.T570A:p.A190A;ENSG00000167315:ENST00000589432:exon6:c.T414A:p.A138A;	0.0110213241181285	0.1
18	47318697	G	A	18	49792327	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.C578T:p.A193V;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.C578T:p.A193V;ENSG00000167315:ENST00000587994:exon6:c.C569T:p.A190V;ENSG00000167315:ENST00000589432:exon6:c.C413T:p.A138V;	0.994527980296009	0.93
18	47318697	G	C	18	49792327	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.C578G:p.A193G;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.C578G:p.A193G;ENSG00000167315:ENST00000587994:exon6:c.C569G:p.A190G;ENSG00000167315:ENST00000589432:exon6:c.C413G:p.A138G;	0.944475031075123	0.69
18	47318697	G	T	18	49792327	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon6:c.C578A:p.A193D;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon6:c.C578A:p.A193D;ENSG00000167315:ENST00000587994:exon6:c.C569A:p.A190D;ENSG00000167315:ENST00000589432:exon6:c.C413A:p.A138D;	0.935362493812062	0.772
18	47318698	C	A	18	49792328	y	y	splicing	ACAA2(NM_006111:exon7:c.578-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.578-1G>T;ENST00000589432:exon7:c.413-1G>T;ENST00000587994:exon7:c.569-1G>T)	.	.	0.999988630721284	0.938
18	47318698	C	G	18	49792328	y	y	splicing	ACAA2(NM_006111:exon7:c.578-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.578-1G>C;ENST00000589432:exon7:c.413-1G>C;ENST00000587994:exon7:c.569-1G>C)	.	.	0.999988630721284	0.938
18	47318698	C	T	18	49792328	y	y	splicing	ACAA2(NM_006111:exon7:c.578-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.578-1G>A;ENST00000589432:exon7:c.413-1G>A;ENST00000587994:exon7:c.569-1G>A)	.	.	0.999988630721284	0.938
18	47318699	T	A	18	49792329	y	y	splicing	ACAA2(NM_006111:exon7:c.578-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.578-2A>T;ENST00000589432:exon7:c.413-2A>T;ENST00000587994:exon7:c.569-2A>T)	.	.	0.999990764389106	0.94
18	47318699	T	C	18	49792329	y	y	splicing	ACAA2(NM_006111:exon7:c.578-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.578-2A>G;ENST00000589432:exon7:c.413-2A>G;ENST00000587994:exon7:c.569-2A>G)	.	.	0.999990764389106	0.894
18	47318699	T	G	18	49792329	y	y	splicing	ACAA2(NM_006111:exon7:c.578-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon7:c.578-2A>C;ENST00000589432:exon7:c.413-2A>C;ENST00000587994:exon7:c.569-2A>C)	.	.	0.999990764389106	0.894
18	47318700	G	A	18	49792330	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	8.5888824788542E-4	0.12
18	47318700	G	C	18	49792330	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999535688873006	0.894
18	47318700	G	T	18	49792330	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.350461424589057	0.478
18	47318701	A	C	18	49792331	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.48905466673238E-5	0.0
18	47318701	A	G	18	49792331	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.01458282577251E-5	0.002
18	47318701	A	T	18	49792331	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.9188592041131E-5	0.0
18	47318702	A	C	18	49792332	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.915958041657493	0.518
18	47318702	A	G	18	49792332	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0117036472114002	0.204
18	47318702	A	T	18	49792332	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.899914046383331	0.55
18	47318703	A	C	18	49792333	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.722019373585449	0.56
18	47318703	A	G	18	49792333	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.70082938768675E-4	0.036
18	47318703	A	T	18	49792333	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.846610579249087	0.628
18	47318704	A	C	18	49792334	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0130017948321543	0.098
18	47318704	A	G	18	49792334	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.96719612414123E-5	0.01
18	47318704	A	T	18	49792334	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0376825280192888	0.15
18	47318705	A	C	18	49792335	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.99986421661484	0.992
18	47318705	A	G	18	49792335	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.93131597765163E-4	0.058
18	47318705	A	T	18	49792335	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0967819975861897	0.356
18	47318706	T	A	18	49792336	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	6.55290551841734E-5	0.002
18	47318706	T	C	18	49792336	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	9.32836985068218E-5	0.0
18	47318706	T	G	18	49792336	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	7.71163326767686E-5	0.002
18	47318707	A	C	18	49792337	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0021489837424955	0.116
18	47318707	A	G	18	49792337	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.17024747982467E-4	0.0
18	47318707	A	T	18	49792337	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00206665451703464	0.092
18	47318708	G	A	18	49792338	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.17174324392176E-5	0.0
18	47318708	G	C	18	49792338	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.993605500466928	0.966
18	47318708	G	T	18	49792338	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.16070765844009E-4	0.056
18	47318709	T	A	18	49792339	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.35020097372625E-5	0.0
18	47318709	T	C	18	49792339	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	6.59231839744412E-5	0.012
18	47318709	T	G	18	49792339	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.59907193673153E-5	0.0
18	47320642	T	A	18	49794272	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00127787322908891	0.022
18	47320642	T	C	18	49794272	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00149301787270329	0.01
18	47320642	T	G	18	49794272	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00107805877549017	0.006
18	47320643	C	A	18	49794273	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.21648568043539E-4	0.004
18	47320643	C	G	18	49794273	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.36196388101624E-5	0.0
18	47320643	C	T	18	49794273	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	4.36196388101624E-5	0.0
18	47320644	A	C	18	49794274	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.150347042619197	0.308
18	47320644	A	G	18	49794274	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.629001100059542	0.502
18	47320644	A	T	18	49794274	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.744086406478852	0.472
18	47320645	C	A	18	49794275	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999830070018517	0.896
18	47320645	C	G	18	49794275	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999934392796188	0.9
18	47320645	C	T	18	49794275	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999861787462184	0.964
18	47320646	T	A	18	49794276	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.923817858070089	0.52
18	47320646	T	C	18	49794276	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.849008142505652	0.51
18	47320646	T	G	18	49794276	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.163594234499485	0.31
18	47320647	C	A	18	49794277	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.113383090833216	0.348
18	47320647	C	G	18	49794277	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.130805086867569	0.354
18	47320647	C	T	18	49794277	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.82873479677969E-5	0.0
18	47320648	A	C	18	49794278	y	y	splicing	ACAA2(NM_006111:exon6:c.577+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.577+2T>G;ENST00000589432:exon6:c.412+2T>G;ENST00000587994:exon6:c.568+2T>G)	.	.	0.999988247793601	0.928
18	47320648	A	G	18	49794278	y	y	splicing	ACAA2(NM_006111:exon6:c.577+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.577+2T>C;ENST00000589432:exon6:c.412+2T>C;ENST00000587994:exon6:c.568+2T>C)	.	.	0.999943260809542	0.87
18	47320648	A	T	18	49794278	y	y	splicing	ACAA2(NM_006111:exon6:c.577+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.577+2T>A;ENST00000589432:exon6:c.412+2T>A;ENST00000587994:exon6:c.568+2T>A)	.	.	0.999988247793601	0.928
18	47320649	C	A	18	49794279	y	y	splicing	ACAA2(NM_006111:exon6:c.577+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.577+1G>T;ENST00000589432:exon6:c.412+1G>T;ENST00000587994:exon6:c.568+1G>T)	.	.	0.999986675681007	0.932
18	47320649	C	G	18	49794279	y	y	splicing	ACAA2(NM_006111:exon6:c.577+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.577+1G>C;ENST00000589432:exon6:c.412+1G>C;ENST00000587994:exon6:c.568+1G>C)	.	.	0.999986675681007	0.932
18	47320649	C	T	18	49794279	y	y	splicing	ACAA2(NM_006111:exon6:c.577+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.577+1G>A;ENST00000589432:exon6:c.412+1G>A;ENST00000587994:exon6:c.568+1G>A)	.	.	0.999986675681007	0.932
18	47320650	C	A	18	49794280	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.G577T:p.A193S;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.G577T:p.A193S;ENSG00000167315:ENST00000587994:exon5:c.G568T:p.A190S;ENSG00000167315:ENST00000589432:exon5:c.G412T:p.A138S;	0.999942084563643	0.946
18	47320650	C	G	18	49794280	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.G577C:p.A193P;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.G577C:p.A193P;ENSG00000167315:ENST00000587994:exon5:c.G568C:p.A190P;ENSG00000167315:ENST00000589432:exon5:c.G412C:p.A138P;	0.999973994205764	0.954
18	47320650	C	T	18	49794280	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.G577A:p.A193T;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.G577A:p.A193T;ENSG00000167315:ENST00000587994:exon5:c.G568A:p.A190T;ENSG00000167315:ENST00000589432:exon5:c.G412A:p.A138T;	0.999921098244767	0.988
18	47320651	A	C	18	49794281	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon5:c.T576G:p.A192A;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.T576G:p.A192A;ENSG00000167315:ENST00000587994:exon5:c.T567G:p.A189A;ENSG00000167315:ENST00000589432:exon5:c.T411G:p.A137A;	7.28764941245845E-4	0.016
18	47320651	A	G	18	49794281	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon5:c.T576C:p.A192A;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.T576C:p.A192A;ENSG00000167315:ENST00000587994:exon5:c.T567C:p.A189A;ENSG00000167315:ENST00000589432:exon5:c.T411C:p.A137A;	2.47682624175471E-4	0.004
18	47320651	A	T	18	49794281	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon5:c.T576A:p.A192A;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.T576A:p.A192A;ENSG00000167315:ENST00000587994:exon5:c.T567A:p.A189A;ENSG00000167315:ENST00000589432:exon5:c.T411A:p.A137A;	9.78685276718266E-5	0.132
18	47320652	G	A	18	49794282	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.C575T:p.A192V;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.C575T:p.A192V;ENSG00000167315:ENST00000587994:exon5:c.C566T:p.A189V;ENSG00000167315:ENST00000589432:exon5:c.C410T:p.A137V;	0.997618482001372	0.734
18	47320652	G	C	18	49794282	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.C575G:p.A192G;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.C575G:p.A192G;ENSG00000167315:ENST00000587994:exon5:c.C566G:p.A189G;ENSG00000167315:ENST00000589432:exon5:c.C410G:p.A137G;	0.874777987757475	0.606
18	47320652	G	T	18	49794282	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.C575A:p.A192D;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon5:c.C575A:p.A192D;ENSG00000167315:ENST00000587994:exon5:c.C566A:p.A189D;ENSG00000167315:ENST00000589432:exon5:c.C410A:p.A137D;	0.951375978781417	0.78
18	47320796	A	C	18	49794426	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.T431G:p.L144R;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon5:c.T266G:p.L89R;ENSG00000167315:ENST00000285093:exon5:c.T431G:p.L144R;ENSG00000167315:ENST00000587994:exon5:c.T422G:p.L141R;ENSG00000167315:ENST00000589432:exon5:c.T266G:p.L89R;	0.294374067638934	0.354
18	47320796	A	G	18	49794426	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.T431C:p.L144P;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon5:c.T266C:p.L89P;ENSG00000167315:ENST00000285093:exon5:c.T431C:p.L144P;ENSG00000167315:ENST00000587994:exon5:c.T422C:p.L141P;ENSG00000167315:ENST00000589432:exon5:c.T266C:p.L89P;	0.275950799283038	0.356
18	47320796	A	T	18	49794426	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.T431A:p.L144Q;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon5:c.T266A:p.L89Q;ENSG00000167315:ENST00000285093:exon5:c.T431A:p.L144Q;ENSG00000167315:ENST00000587994:exon5:c.T422A:p.L141Q;ENSG00000167315:ENST00000589432:exon5:c.T266A:p.L89Q;	0.374160504216423	0.422
18	47320797	G	A	18	49794427	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon5:c.C430T:p.L144L;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000586485:exon5:c.C265T:p.L89L;ENSG00000167315:ENST00000285093:exon5:c.C430T:p.L144L;ENSG00000167315:ENST00000587994:exon5:c.C421T:p.L141L;ENSG00000167315:ENST00000589432:exon5:c.C265T:p.L89L;	0.0011560302686826	0.182
18	47320797	G	C	18	49794427	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.C430G:p.L144V;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon5:c.C265G:p.L89V;ENSG00000167315:ENST00000285093:exon5:c.C430G:p.L144V;ENSG00000167315:ENST00000587994:exon5:c.C421G:p.L141V;ENSG00000167315:ENST00000589432:exon5:c.C265G:p.L89V;	4.70866908053266E-4	0.128
18	47320797	G	T	18	49794427	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon5:c.C430A:p.L144M;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon5:c.C265A:p.L89M;ENSG00000167315:ENST00000285093:exon5:c.C430A:p.L144M;ENSG00000167315:ENST00000587994:exon5:c.C421A:p.L141M;ENSG00000167315:ENST00000589432:exon5:c.C265A:p.L89M;	7.1569246683239E-5	0.0
18	47320798	C	A	18	49794428	y	y	splicing	ACAA2(NM_006111:exon6:c.430-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.430-1G>T;ENST00000589432:exon6:c.265-1G>T;ENST00000587994:exon6:c.421-1G>T;ENST00000586485:exon6:c.265-1G>T)	.	.	0.999986675681007	0.932
18	47320798	C	G	18	49794428	y	y	splicing	ACAA2(NM_006111:exon6:c.430-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.430-1G>C;ENST00000589432:exon6:c.265-1G>C;ENST00000587994:exon6:c.421-1G>C;ENST00000586485:exon6:c.265-1G>C)	.	.	0.999986675681007	0.932
18	47320798	C	T	18	49794428	y	y	splicing	ACAA2(NM_006111:exon6:c.430-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.430-1G>A;ENST00000589432:exon6:c.265-1G>A;ENST00000587994:exon6:c.421-1G>A;ENST00000586485:exon6:c.265-1G>A)	.	.	0.999986675681007	0.932
18	47320799	T	A	18	49794429	y	y	splicing	ACAA2(NM_006111:exon6:c.430-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.430-2A>T;ENST00000589432:exon6:c.265-2A>T;ENST00000587994:exon6:c.421-2A>T;ENST00000586485:exon6:c.265-2A>T)	.	.	0.999988247793601	0.928
18	47320799	T	C	18	49794429	y	y	splicing	ACAA2(NM_006111:exon6:c.430-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.430-2A>G;ENST00000589432:exon6:c.265-2A>G;ENST00000587994:exon6:c.421-2A>G;ENST00000586485:exon6:c.265-2A>G)	.	.	0.999988247793601	0.928
18	47320799	T	G	18	49794429	y	y	splicing	ACAA2(NM_006111:exon6:c.430-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon6:c.430-2A>C;ENST00000589432:exon6:c.265-2A>C;ENST00000587994:exon6:c.421-2A>C;ENST00000586485:exon6:c.265-2A>C)	.	.	0.999988247793601	0.928
18	47320800	A	C	18	49794430	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.997069370397487	0.678
18	47320800	A	G	18	49794430	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.82667416779194E-4	0.022
18	47320800	A	T	18	49794430	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00219419435889081	0.216
18	47320801	T	A	18	49794431	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.50831953770523E-4	0.08
18	47320801	T	C	18	49794431	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.998528865787174	0.958
18	47320801	T	G	18	49794431	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.77452539132384E-4	0.0
18	47320802	T	A	18	49794432	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.8571960297898E-5	0.046
18	47320802	T	C	18	49794432	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.14468490257208E-5	0.0
18	47320802	T	G	18	49794432	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.91683211707006E-5	0.0
18	47320803	A	C	18	49794433	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.033681407587996	0.332
18	47320803	A	G	18	49794433	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.60298907232304E-4	0.006
18	47320803	A	T	18	49794433	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.104573038040031	0.31
18	47320804	A	C	18	49794434	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0338354628197859	0.226
18	47320804	A	G	18	49794434	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.0002609471418E-4	0.008
18	47320804	A	T	18	49794434	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.108255990659159	0.36
18	47320805	A	C	18	49794435	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00255816509884491	0.136
18	47320805	A	G	18	49794435	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.65058925686286E-5	0.002
18	47320805	A	T	18	49794435	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.0127574424759901	0.158
18	47320806	A	C	18	49794436	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.220086025472578	0.506
18	47320806	A	G	18	49794436	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00223751620874977	0.102
18	47320806	A	T	18	49794436	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.101842941830275	0.626
18	47320807	G	A	18	49794437	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.76568066780751E-5	0.006
18	47320807	G	C	18	49794437	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	5.77417138818086E-4	0.066
18	47320807	G	T	18	49794437	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00213457148307358	0.108
18	47320808	A	C	18	49794438	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.901143107370527	0.672
18	47320808	A	G	18	49794438	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00714600212002194	0.318
18	47320808	A	T	18	49794438	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.991976805069034	0.762
18	47320809	C	A	18	49794439	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.95792866086172E-5	0.0
18	47320809	C	G	18	49794439	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.95792866086172E-5	0.004
18	47320809	C	T	18	49794439	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.66125672697979E-5	0.0
18	47322127	G	A	18	49795757	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.73525087666576E-5	0.0
18	47322127	G	C	18	49795757	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.41820354886185E-5	0.0
18	47322127	G	T	18	49795757	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.51119838277778E-4	0.006
18	47322128	T	A	18	49795758	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.33724400937105E-4	0.0
18	47322128	T	C	18	49795758	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.29893245305838E-5	0.0
18	47322128	T	G	18	49795758	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.29893245305838E-5	0.0
18	47322129	T	A	18	49795759	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	1.27580955355583E-4	0.098
18	47322129	T	C	18	49795759	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	7.33848018376206E-5	0.014
18	47322129	T	G	18	49795759	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.29984572931738E-4	0.07
18	47322130	C	A	18	49795760	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999987632047081	0.972
18	47322130	C	G	18	49795760	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999991579595467	0.99
18	47322130	C	T	18	49795760	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.999942247322368	0.974
18	47322131	C	A	18	49795761	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.30451638569807E-4	0.03
18	47322131	C	G	18	49795761	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.99472346772658E-5	0.06
18	47322131	C	T	18	49795761	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	2.00411440500514E-4	0.12
18	47322132	A	C	18	49795762	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	7.18417262570796E-4	0.186
18	47322132	A	G	18	49795762	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	0.00277694176944045	0.134
18	47322132	A	T	18	49795762	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315	.	.	3.93004945113286E-4	0.102
18	47322133	A	C	18	49795763	y	y	splicing	ACAA2(NM_006111:exon5:c.429+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.429+2T>G;ENST00000589432:exon5:c.264+2T>G;ENST00000587994:exon5:c.420+2T>G;ENST00000586485:exon5:c.264+2T>G)	.	.	0.999966203349492	0.966
18	47322133	A	G	18	49795763	y	y	splicing	ACAA2(NM_006111:exon5:c.429+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.429+2T>C;ENST00000589432:exon5:c.264+2T>C;ENST00000587994:exon5:c.420+2T>C;ENST00000586485:exon5:c.264+2T>C)	.	.	0.999766074474203	0.966
18	47322133	A	T	18	49795763	y	y	splicing	ACAA2(NM_006111:exon5:c.429+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.429+2T>A;ENST00000589432:exon5:c.264+2T>A;ENST00000587994:exon5:c.420+2T>A;ENST00000586485:exon5:c.264+2T>A)	.	.	0.999966203349492	0.962
18	47322134	C	A	18	49795764	y	y	splicing	ACAA2(NM_006111:exon5:c.429+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.429+1G>T;ENST00000589432:exon5:c.264+1G>T;ENST00000587994:exon5:c.420+1G>T;ENST00000586485:exon5:c.264+1G>T)	.	.	0.999981760802075	0.958
18	47322134	C	G	18	49795764	y	y	splicing	ACAA2(NM_006111:exon5:c.429+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.429+1G>C;ENST00000589432:exon5:c.264+1G>C;ENST00000587994:exon5:c.420+1G>C;ENST00000586485:exon5:c.264+1G>C)	.	.	0.999981760802075	0.958
18	47322134	C	T	18	49795764	y	y	splicing	ACAA2(NM_006111:exon5:c.429+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.429+1G>A;ENST00000589432:exon5:c.264+1G>A;ENST00000587994:exon5:c.420+1G>A;ENST00000586485:exon5:c.264+1G>A)	.	.	0.999981760802075	0.958
18	47322135	C	A	18	49795765	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.G429T:p.K143N;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon4:c.G264T:p.K88N;ENSG00000167315:ENST00000285093:exon4:c.G429T:p.K143N;ENSG00000167315:ENST00000587994:exon4:c.G420T:p.K140N;ENSG00000167315:ENST00000589432:exon4:c.G264T:p.K88N;	0.999954633606918	0.986
18	47322135	C	G	18	49795765	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.G429C:p.K143N;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon4:c.G264C:p.K88N;ENSG00000167315:ENST00000285093:exon4:c.G429C:p.K143N;ENSG00000167315:ENST00000587994:exon4:c.G420C:p.K140N;ENSG00000167315:ENST00000589432:exon4:c.G264C:p.K88N;	0.999989357491506	0.994
18	47322135	C	T	18	49795765	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon4:c.G429A:p.K143K;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000586485:exon4:c.G264A:p.K88K;ENSG00000167315:ENST00000285093:exon4:c.G429A:p.K143K;ENSG00000167315:ENST00000587994:exon4:c.G420A:p.K140K;ENSG00000167315:ENST00000589432:exon4:c.G264A:p.K88K;	0.999952208142776	0.98
18	47322136	T	A	18	49795766	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.A428T:p.K143M;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon4:c.A263T:p.K88M;ENSG00000167315:ENST00000285093:exon4:c.A428T:p.K143M;ENSG00000167315:ENST00000587994:exon4:c.A419T:p.K140M;ENSG00000167315:ENST00000589432:exon4:c.A263T:p.K88M;	0.999837108543998	0.996
18	47322136	T	C	18	49795766	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.A428G:p.K143R;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon4:c.A263G:p.K88R;ENSG00000167315:ENST00000285093:exon4:c.A428G:p.K143R;ENSG00000167315:ENST00000587994:exon4:c.A419G:p.K140R;ENSG00000167315:ENST00000589432:exon4:c.A263G:p.K88R;	0.999972242596965	1.0
18	47322136	T	G	18	49795766	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.A428C:p.K143T;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon4:c.A263C:p.K88T;ENSG00000167315:ENST00000285093:exon4:c.A428C:p.K143T;ENSG00000167315:ENST00000587994:exon4:c.A419C:p.K140T;ENSG00000167315:ENST00000589432:exon4:c.A263C:p.K88T;	0.994633400485019	0.888
18	47322137	T	A	18	49795767	y	y	exonic	ACAA2	stopgain SNV	ACAA2:NM_006111:exon4:c.A427T:p.K143X;	exonic	ENSG00000167315	stopgain SNV	ENSG00000167315:ENST00000586485:exon4:c.A262T:p.K88X;ENSG00000167315:ENST00000285093:exon4:c.A427T:p.K143X;ENSG00000167315:ENST00000587994:exon4:c.A418T:p.K140X;ENSG00000167315:ENST00000589432:exon4:c.A262T:p.K88X;	0.735974475257334	0.64
18	47322137	T	C	18	49795767	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.A427G:p.K143E;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon4:c.A262G:p.K88E;ENSG00000167315:ENST00000285093:exon4:c.A427G:p.K143E;ENSG00000167315:ENST00000587994:exon4:c.A418G:p.K140E;ENSG00000167315:ENST00000589432:exon4:c.A262G:p.K88E;	0.00618842452610288	0.094
18	47322137	T	G	18	49795767	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.A427C:p.K143Q;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586485:exon4:c.A262C:p.K88Q;ENSG00000167315:ENST00000285093:exon4:c.A427C:p.K143Q;ENSG00000167315:ENST00000587994:exon4:c.A418C:p.K140Q;ENSG00000167315:ENST00000589432:exon4:c.A262C:p.K88Q;	8.17159121769138E-6	0.0
18	47322250	T	A	18	49795880	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.A314T:p.E105V;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon4:c.A149T:p.E50V;ENSG00000167315:ENST00000586485:exon4:c.A149T:p.E50V;ENSG00000167315:ENST00000585948:exon4:c.A149T:p.E50V;ENSG00000167315:ENST00000285093:exon4:c.A314T:p.E105V;ENSG00000167315:ENST00000587994:exon4:c.A305T:p.E102V;ENSG00000167315:ENST00000589432:exon4:c.A149T:p.E50V;	0.00102244225182394	0.012
18	47322250	T	C	18	49795880	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.A314G:p.E105G;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon4:c.A149G:p.E50G;ENSG00000167315:ENST00000586485:exon4:c.A149G:p.E50G;ENSG00000167315:ENST00000585948:exon4:c.A149G:p.E50G;ENSG00000167315:ENST00000285093:exon4:c.A314G:p.E105G;ENSG00000167315:ENST00000587994:exon4:c.A305G:p.E102G;ENSG00000167315:ENST00000589432:exon4:c.A149G:p.E50G;	0.00100642945067294	0.02
18	47322250	T	G	18	49795880	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.A314C:p.E105A;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon4:c.A149C:p.E50A;ENSG00000167315:ENST00000586485:exon4:c.A149C:p.E50A;ENSG00000167315:ENST00000585948:exon4:c.A149C:p.E50A;ENSG00000167315:ENST00000285093:exon4:c.A314C:p.E105A;ENSG00000167315:ENST00000587994:exon4:c.A305C:p.E102A;ENSG00000167315:ENST00000589432:exon4:c.A149C:p.E50A;	2.17273371216308E-4	0.014
18	47322251	C	A	18	49795881	y	y	exonic	ACAA2	stopgain SNV	ACAA2:NM_006111:exon4:c.G313T:p.E105X;	exonic	ENSG00000167315	stopgain SNV	ENSG00000167315:ENST00000586100:exon4:c.G148T:p.E50X;ENSG00000167315:ENST00000586485:exon4:c.G148T:p.E50X;ENSG00000167315:ENST00000585948:exon4:c.G148T:p.E50X;ENSG00000167315:ENST00000285093:exon4:c.G313T:p.E105X;ENSG00000167315:ENST00000587994:exon4:c.G304T:p.E102X;ENSG00000167315:ENST00000589432:exon4:c.G148T:p.E50X;	0.999935730798503	0.98
18	47322251	C	G	18	49795881	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.G313C:p.E105Q;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon4:c.G148C:p.E50Q;ENSG00000167315:ENST00000586485:exon4:c.G148C:p.E50Q;ENSG00000167315:ENST00000585948:exon4:c.G148C:p.E50Q;ENSG00000167315:ENST00000285093:exon4:c.G313C:p.E105Q;ENSG00000167315:ENST00000587994:exon4:c.G304C:p.E102Q;ENSG00000167315:ENST00000589432:exon4:c.G148C:p.E50Q;	0.994221632770209	0.714
18	47322251	C	T	18	49795881	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon4:c.G313A:p.E105K;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon4:c.G148A:p.E50K;ENSG00000167315:ENST00000586485:exon4:c.G148A:p.E50K;ENSG00000167315:ENST00000585948:exon4:c.G148A:p.E50K;ENSG00000167315:ENST00000285093:exon4:c.G313A:p.E105K;ENSG00000167315:ENST00000587994:exon4:c.G304A:p.E102K;ENSG00000167315:ENST00000589432:exon4:c.G148A:p.E50K;	0.857857834040302	0.598
18	47322252	C	A	18	49795882	y	y	splicing	ACAA2(NM_006111:exon5:c.313-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.313-1G>T;ENST00000589432:exon5:c.148-1G>T;ENST00000587994:exon5:c.304-1G>T;ENST00000586485:exon5:c.148-1G>T;ENST00000585948:exon5:c.148-1G>T;ENST00000586100:exon5:c.148-1G>T);ENSG00000266997(ENST00000590532:exon8:c.848-1G>T)	.	.	0.999915710762489	0.938
18	47322252	C	G	18	49795882	y	y	splicing	ACAA2(NM_006111:exon5:c.313-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.313-1G>C;ENST00000589432:exon5:c.148-1G>C;ENST00000587994:exon5:c.304-1G>C;ENST00000586485:exon5:c.148-1G>C;ENST00000585948:exon5:c.148-1G>C;ENST00000586100:exon5:c.148-1G>C);ENSG00000266997(ENST00000590532:exon8:c.848-1G>C)	.	.	0.999915710762489	0.938
18	47322252	C	T	18	49795882	y	y	splicing	ACAA2(NM_006111:exon5:c.313-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.313-1G>A;ENST00000589432:exon5:c.148-1G>A;ENST00000587994:exon5:c.304-1G>A;ENST00000586485:exon5:c.148-1G>A;ENST00000585948:exon5:c.148-1G>A;ENST00000586100:exon5:c.148-1G>A);ENSG00000266997(ENST00000590532:exon8:c.848-1G>A)	.	.	0.999967335026411	0.94
18	47322253	T	A	18	49795883	y	y	splicing	ACAA2(NM_006111:exon5:c.313-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.313-2A>T;ENST00000589432:exon5:c.148-2A>T;ENST00000587994:exon5:c.304-2A>T;ENST00000586485:exon5:c.148-2A>T;ENST00000585948:exon5:c.148-2A>T;ENST00000586100:exon5:c.148-2A>T);ENSG00000266997(ENST00000590532:exon8:c.848-2A>T)	.	.	0.99994568797423	0.944
18	47322253	T	C	18	49795883	y	y	splicing	ACAA2(NM_006111:exon5:c.313-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.313-2A>G;ENST00000589432:exon5:c.148-2A>G;ENST00000587994:exon5:c.304-2A>G;ENST00000586485:exon5:c.148-2A>G;ENST00000585948:exon5:c.148-2A>G;ENST00000586100:exon5:c.148-2A>G);ENSG00000266997(ENST00000590532:exon8:c.848-2A>G)	.	.	0.99994568797423	0.956
18	47322253	T	G	18	49795883	y	y	splicing	ACAA2(NM_006111:exon5:c.313-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon5:c.313-2A>C;ENST00000589432:exon5:c.148-2A>C;ENST00000587994:exon5:c.304-2A>C;ENST00000586485:exon5:c.148-2A>C;ENST00000585948:exon5:c.148-2A>C;ENST00000586100:exon5:c.148-2A>C);ENSG00000266997(ENST00000590532:exon8:c.848-2A>C)	.	.	0.99994568797423	0.956
18	47322254	A	C	18	49795884	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.946950251098265	0.674
18	47322254	A	G	18	49795884	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.08337519796155E-4	0.08
18	47322254	A	T	18	49795884	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00827760671957179	0.224
18	47322255	T	A	18	49795885	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00135143332169144	0.042
18	47322255	T	C	18	49795885	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.998140243983948	0.946
18	47322255	T	G	18	49795885	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.08326073644396E-4	0.032
18	47322256	T	A	18	49795886	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.99851631726147E-4	0.072
18	47322256	T	C	18	49795886	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999580041299962	0.992
18	47322256	T	G	18	49795886	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.71577596856078E-4	0.01
18	47322257	T	A	18	49795887	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.47953644422605E-5	0.028
18	47322257	T	C	18	49795887	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.22638309152466E-5	0.008
18	47322257	T	G	18	49795887	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.80070782157771E-5	0.008
18	47322258	A	C	18	49795888	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0014669211606634	0.036
18	47322258	A	G	18	49795888	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.08882969669809E-5	0.008
18	47322258	A	T	18	49795888	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	8.69108960548096E-4	0.064
18	47322259	A	C	18	49795889	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00618963372725896	0.194
18	47322259	A	G	18	49795889	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.46084834937898E-4	0.052
18	47322259	A	T	18	49795889	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0131625179833708	0.158
18	47322260	A	C	18	49795890	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.943595177097623	0.848
18	47322260	A	G	18	49795890	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0195907793503801	0.124
18	47322260	A	T	18	49795890	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.966519496694935	0.872
18	47322261	A	C	18	49795891	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0656994209825934	0.398
18	47322261	A	G	18	49795891	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.02134922915738E-4	0.066
18	47322261	A	T	18	49795891	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.255596449449527	0.532
18	47322262	A	C	18	49795892	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.155042428808312	0.378
18	47322262	A	G	18	49795892	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00196297691377752	0.062
18	47322262	A	T	18	49795892	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0877472681999666	0.48
18	47322263	C	A	18	49795893	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.95048459408849E-5	0.002
18	47322263	C	G	18	49795893	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.95048459408849E-5	0.0
18	47322263	C	T	18	49795893	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.6363338440025E-4	0.008
18	47323828	G	A	18	49797458	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.59488844034105E-5	0.002
18	47323828	G	C	18	49797458	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.95979536929393E-5	0.0
18	47323828	G	T	18	49797458	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.51019803504156E-5	0.0
18	47323829	T	A	18	49797459	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.02619945236548E-4	0.002
18	47323829	T	C	18	49797459	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	8.86747448266862E-5	0.002
18	47323829	T	G	18	49797459	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.18168700964336E-5	0.002
18	47323830	C	A	18	49797460	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.49917838411283E-5	0.008
18	47323830	C	G	18	49797460	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.2768171384063E-4	0.05
18	47323830	C	T	18	49797460	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.69545468357326E-5	0.046
18	47323831	C	A	18	49797461	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.543585514476339	0.5
18	47323831	C	G	18	49797461	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.710873515684557	0.56
18	47323831	C	T	18	49797461	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.511339406436508	0.488
18	47323832	A	C	18	49797462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.68405124903651E-5	0.0
18	47323832	A	G	18	49797462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.53824792213918E-5	0.0
18	47323832	A	T	18	49797462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.55081354559332E-5	0.016
18	47323833	T	A	18	49797463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.99934450880891	0.772
18	47323833	T	C	18	49797463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.891909699122349	0.59
18	47323833	T	G	18	49797463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.998066682433698	0.802
18	47323834	A	C	18	49797464	y	y	splicing	ACAA2(NM_006111:exon4:c.312+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.312+2T>G;ENST00000589432:exon4:c.147+2T>G;ENST00000587994:exon4:c.303+2T>G;ENST00000586485:exon4:c.147+2T>G;ENST00000585948:exon4:c.147+2T>G;ENST00000586100:exon4:c.147+2T>G);ENSG00000266997(ENST00000590532:exon7:c.847+2T>G)	.	.	0.999988247793601	0.926
18	47323834	A	G	18	49797464	y	y	splicing	ACAA2(NM_006111:exon4:c.312+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.312+2T>C;ENST00000589432:exon4:c.147+2T>C;ENST00000587994:exon4:c.303+2T>C;ENST00000586485:exon4:c.147+2T>C;ENST00000585948:exon4:c.147+2T>C;ENST00000586100:exon4:c.147+2T>C);ENSG00000266997(ENST00000590532:exon7:c.847+2T>C)	.	.	0.98918007292081	0.632
18	47323834	A	T	18	49797464	y	y	splicing	ACAA2(NM_006111:exon4:c.312+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.312+2T>A;ENST00000589432:exon4:c.147+2T>A;ENST00000587994:exon4:c.303+2T>A;ENST00000586485:exon4:c.147+2T>A;ENST00000585948:exon4:c.147+2T>A;ENST00000586100:exon4:c.147+2T>A);ENSG00000266997(ENST00000590532:exon7:c.847+2T>A)	.	.	0.999988247793601	0.926
18	47323835	C	A	18	49797465	y	y	splicing	ACAA2(NM_006111:exon4:c.312+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.312+1G>T;ENST00000589432:exon4:c.147+1G>T;ENST00000587994:exon4:c.303+1G>T;ENST00000586485:exon4:c.147+1G>T;ENST00000585948:exon4:c.147+1G>T;ENST00000586100:exon4:c.147+1G>T);ENSG00000266997(ENST00000590532:exon7:c.847+1G>T)	.	.	0.999985532734767	0.936
18	47323835	C	G	18	49797465	y	y	splicing	ACAA2(NM_006111:exon4:c.312+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.312+1G>C;ENST00000589432:exon4:c.147+1G>C;ENST00000587994:exon4:c.303+1G>C;ENST00000586485:exon4:c.147+1G>C;ENST00000585948:exon4:c.147+1G>C;ENST00000586100:exon4:c.147+1G>C);ENSG00000266997(ENST00000590532:exon7:c.847+1G>C)	.	.	0.999985532734767	0.936
18	47323835	C	T	18	49797465	y	y	splicing	ACAA2(NM_006111:exon4:c.312+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.312+1G>A;ENST00000589432:exon4:c.147+1G>A;ENST00000587994:exon4:c.303+1G>A;ENST00000586485:exon4:c.147+1G>A;ENST00000585948:exon4:c.147+1G>A;ENST00000586100:exon4:c.147+1G>A);ENSG00000266997(ENST00000590532:exon7:c.847+1G>A)	.	.	0.999985532734767	0.936
18	47323836	C	A	18	49797466	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.G312T:p.Q104H;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.G147T:p.Q49H;ENSG00000167315:ENST00000586485:exon3:c.G147T:p.Q49H;ENSG00000167315:ENST00000585948:exon3:c.G147T:p.Q49H;ENSG00000167315:ENST00000285093:exon3:c.G312T:p.Q104H;ENSG00000167315:ENST00000587994:exon3:c.G303T:p.Q101H;ENSG00000167315:ENST00000589432:exon3:c.G147T:p.Q49H;	0.999845957604847	0.992
18	47323836	C	G	18	49797466	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.G312C:p.Q104H;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.G147C:p.Q49H;ENSG00000167315:ENST00000586485:exon3:c.G147C:p.Q49H;ENSG00000167315:ENST00000585948:exon3:c.G147C:p.Q49H;ENSG00000167315:ENST00000285093:exon3:c.G312C:p.Q104H;ENSG00000167315:ENST00000587994:exon3:c.G303C:p.Q101H;ENSG00000167315:ENST00000589432:exon3:c.G147C:p.Q49H;	0.999986440034442	0.998
18	47323836	C	T	18	49797466	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon3:c.G312A:p.Q104Q;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.G147A:p.Q49Q;ENSG00000167315:ENST00000586485:exon3:c.G147A:p.Q49Q;ENSG00000167315:ENST00000585948:exon3:c.G147A:p.Q49Q;ENSG00000167315:ENST00000285093:exon3:c.G312A:p.Q104Q;ENSG00000167315:ENST00000587994:exon3:c.G303A:p.Q101Q;ENSG00000167315:ENST00000589432:exon3:c.G147A:p.Q49Q;	0.999870458524871	0.998
18	47323837	T	A	18	49797467	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.A311T:p.Q104L;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.A146T:p.Q49L;ENSG00000167315:ENST00000586485:exon3:c.A146T:p.Q49L;ENSG00000167315:ENST00000585948:exon3:c.A146T:p.Q49L;ENSG00000167315:ENST00000285093:exon3:c.A311T:p.Q104L;ENSG00000167315:ENST00000587994:exon3:c.A302T:p.Q101L;ENSG00000167315:ENST00000589432:exon3:c.A146T:p.Q49L;	0.99958630197289	0.976
18	47323837	T	C	18	49797467	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.A311G:p.Q104R;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.A146G:p.Q49R;ENSG00000167315:ENST00000586485:exon3:c.A146G:p.Q49R;ENSG00000167315:ENST00000585948:exon3:c.A146G:p.Q49R;ENSG00000167315:ENST00000285093:exon3:c.A311G:p.Q104R;ENSG00000167315:ENST00000587994:exon3:c.A302G:p.Q101R;ENSG00000167315:ENST00000589432:exon3:c.A146G:p.Q49R;	0.999649779957458	0.992
18	47323837	T	G	18	49797467	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.A311C:p.Q104P;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.A146C:p.Q49P;ENSG00000167315:ENST00000586485:exon3:c.A146C:p.Q49P;ENSG00000167315:ENST00000585948:exon3:c.A146C:p.Q49P;ENSG00000167315:ENST00000285093:exon3:c.A311C:p.Q104P;ENSG00000167315:ENST00000587994:exon3:c.A302C:p.Q101P;ENSG00000167315:ENST00000589432:exon3:c.A146C:p.Q49P;	0.997659870789203	0.982
18	47323838	G	A	18	49797468	y	y	exonic	ACAA2	stopgain SNV	ACAA2:NM_006111:exon3:c.C310T:p.Q104X;	exonic	ENSG00000167315	stopgain SNV	ENSG00000167315:ENST00000586100:exon3:c.C145T:p.Q49X;ENSG00000167315:ENST00000586485:exon3:c.C145T:p.Q49X;ENSG00000167315:ENST00000585948:exon3:c.C145T:p.Q49X;ENSG00000167315:ENST00000285093:exon3:c.C310T:p.Q104X;ENSG00000167315:ENST00000587994:exon3:c.C301T:p.Q101X;ENSG00000167315:ENST00000589432:exon3:c.C145T:p.Q49X;	0.99705680716124	0.932
18	47323838	G	C	18	49797468	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.C310G:p.Q104E;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.C145G:p.Q49E;ENSG00000167315:ENST00000586485:exon3:c.C145G:p.Q49E;ENSG00000167315:ENST00000585948:exon3:c.C145G:p.Q49E;ENSG00000167315:ENST00000285093:exon3:c.C310G:p.Q104E;ENSG00000167315:ENST00000587994:exon3:c.C301G:p.Q101E;ENSG00000167315:ENST00000589432:exon3:c.C145G:p.Q49E;	0.908619159998749	0.668
18	47323838	G	T	18	49797468	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.C310A:p.Q104K;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.C145A:p.Q49K;ENSG00000167315:ENST00000586485:exon3:c.C145A:p.Q49K;ENSG00000167315:ENST00000585948:exon3:c.C145A:p.Q49K;ENSG00000167315:ENST00000285093:exon3:c.C310A:p.Q104K;ENSG00000167315:ENST00000587994:exon3:c.C301A:p.Q101K;ENSG00000167315:ENST00000589432:exon3:c.C145A:p.Q49K;	0.952852228240991	0.786
18	47323963	C	A	18	49797593	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.G185T:p.S62I;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.G20T:p.S7I;ENSG00000167315:ENST00000586485:exon3:c.G20T:p.S7I;ENSG00000167315:ENST00000585948:exon3:c.G20T:p.S7I;ENSG00000167315:ENST00000285093:exon3:c.G185T:p.S62I;ENSG00000167315:ENST00000587994:exon3:c.G176T:p.S59I;ENSG00000167315:ENST00000589432:exon3:c.G20T:p.S7I;	3.61008184398377E-5	0.0
18	47323963	C	G	18	49797593	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.G185C:p.S62T;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.G20C:p.S7T;ENSG00000167315:ENST00000586485:exon3:c.G20C:p.S7T;ENSG00000167315:ENST00000585948:exon3:c.G20C:p.S7T;ENSG00000167315:ENST00000285093:exon3:c.G185C:p.S62T;ENSG00000167315:ENST00000587994:exon3:c.G176C:p.S59T;ENSG00000167315:ENST00000589432:exon3:c.G20C:p.S7T;	3.27526142030045E-5	0.004
18	47323963	C	T	18	49797593	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.G185A:p.S62N;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.G20A:p.S7N;ENSG00000167315:ENST00000586485:exon3:c.G20A:p.S7N;ENSG00000167315:ENST00000585948:exon3:c.G20A:p.S7N;ENSG00000167315:ENST00000285093:exon3:c.G185A:p.S62N;ENSG00000167315:ENST00000587994:exon3:c.G176A:p.S59N;ENSG00000167315:ENST00000589432:exon3:c.G20A:p.S7N;	1.40600967964984E-4	0.004
18	47323964	T	A	18	49797594	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.A184T:p.S62C;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.A19T:p.S7C;ENSG00000167315:ENST00000586485:exon3:c.A19T:p.S7C;ENSG00000167315:ENST00000585948:exon3:c.A19T:p.S7C;ENSG00000167315:ENST00000285093:exon3:c.A184T:p.S62C;ENSG00000167315:ENST00000587994:exon3:c.A175T:p.S59C;ENSG00000167315:ENST00000589432:exon3:c.A19T:p.S7C;	0.167965676185829	0.448
18	47323964	T	C	18	49797594	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.A184G:p.S62G;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.A19G:p.S7G;ENSG00000167315:ENST00000586485:exon3:c.A19G:p.S7G;ENSG00000167315:ENST00000585948:exon3:c.A19G:p.S7G;ENSG00000167315:ENST00000285093:exon3:c.A184G:p.S62G;ENSG00000167315:ENST00000587994:exon3:c.A175G:p.S59G;ENSG00000167315:ENST00000589432:exon3:c.A19G:p.S7G;	0.0155084762341204	0.162
18	47323964	T	G	18	49797594	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon3:c.A184C:p.S62R;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon3:c.A19C:p.S7R;ENSG00000167315:ENST00000586485:exon3:c.A19C:p.S7R;ENSG00000167315:ENST00000585948:exon3:c.A19C:p.S7R;ENSG00000167315:ENST00000285093:exon3:c.A184C:p.S62R;ENSG00000167315:ENST00000587994:exon3:c.A175C:p.S59R;ENSG00000167315:ENST00000589432:exon3:c.A19C:p.S7R;	0.213569226336816	0.59
18	47323965	C	A	18	49797595	y	y	splicing	ACAA2(NM_006111:exon4:c.184-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.184-1G>T;ENST00000589432:exon4:c.19-1G>T;ENST00000587994:exon4:c.175-1G>T;ENST00000586485:exon4:c.19-1G>T;ENST00000585948:exon4:c.19-1G>T;ENST00000586100:exon4:c.19-1G>T);ENSG00000266997(ENST00000590532:exon7:c.719-1G>T)	.	.	0.999971209564868	0.938
18	47323965	C	G	18	49797595	y	y	splicing	ACAA2(NM_006111:exon4:c.184-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.184-1G>C;ENST00000589432:exon4:c.19-1G>C;ENST00000587994:exon4:c.175-1G>C;ENST00000586485:exon4:c.19-1G>C;ENST00000585948:exon4:c.19-1G>C;ENST00000586100:exon4:c.19-1G>C);ENSG00000266997(ENST00000590532:exon7:c.719-1G>C)	.	.	0.999971209564868	0.938
18	47323965	C	T	18	49797595	y	y	splicing	ACAA2(NM_006111:exon4:c.184-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.184-1G>A;ENST00000589432:exon4:c.19-1G>A;ENST00000587994:exon4:c.175-1G>A;ENST00000586485:exon4:c.19-1G>A;ENST00000585948:exon4:c.19-1G>A;ENST00000586100:exon4:c.19-1G>A);ENSG00000266997(ENST00000590532:exon7:c.719-1G>A)	.	.	0.99995586615188	0.94
18	47323966	T	A	18	49797596	y	y	splicing	ACAA2(NM_006111:exon4:c.184-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.184-2A>T;ENST00000589432:exon4:c.19-2A>T;ENST00000587994:exon4:c.175-2A>T;ENST00000586485:exon4:c.19-2A>T;ENST00000585948:exon4:c.19-2A>T;ENST00000586100:exon4:c.19-2A>T);ENSG00000266997(ENST00000590532:exon7:c.719-2A>T)	.	.	0.999964896440643	0.932
18	47323966	T	C	18	49797596	y	y	splicing	ACAA2(NM_006111:exon4:c.184-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.184-2A>G;ENST00000589432:exon4:c.19-2A>G;ENST00000587994:exon4:c.175-2A>G;ENST00000586485:exon4:c.19-2A>G;ENST00000585948:exon4:c.19-2A>G;ENST00000586100:exon4:c.19-2A>G);ENSG00000266997(ENST00000590532:exon7:c.719-2A>G)	.	.	0.999951957019574	0.896
18	47323966	T	G	18	49797596	y	y	splicing	ACAA2(NM_006111:exon4:c.184-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon4:c.184-2A>C;ENST00000589432:exon4:c.19-2A>C;ENST00000587994:exon4:c.175-2A>C;ENST00000586485:exon4:c.19-2A>C;ENST00000585948:exon4:c.19-2A>C;ENST00000586100:exon4:c.19-2A>C);ENSG00000266997(ENST00000590532:exon7:c.719-2A>C)	.	.	0.999951957019574	0.896
18	47323967	A	C	18	49797597	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.797595063080689	0.686
18	47323967	A	G	18	49797597	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.01584783512067E-5	0.0
18	47323967	A	T	18	49797597	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.00848740380321E-4	0.088
18	47323968	G	A	18	49797598	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.34339595550277E-5	0.028
18	47323968	G	C	18	49797598	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.09376993866823E-5	0.024
18	47323968	G	T	18	49797598	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.26044409110842E-5	0.024
18	47323969	A	C	18	49797599	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	7.73179781949908E-4	0.168
18	47323969	A	G	18	49797599	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.11550346848076E-4	0.034
18	47323969	A	T	18	49797599	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.49198566256201E-4	0.164
18	47323970	A	C	18	49797600	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	7.12362758148562E-4	0.168
18	47323970	A	G	18	49797600	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.0637197555752E-5	0.016
18	47323970	A	T	18	49797600	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.48546053480589E-4	0.138
18	47323971	G	A	18	49797601	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.41655469002275E-5	0.0
18	47323971	G	C	18	49797601	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.61051108463423E-5	0.02
18	47323971	G	T	18	49797601	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	8.55471295751082E-5	0.044
18	47323972	A	C	18	49797602	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.0629215529781E-4	0.048
18	47323972	A	G	18	49797602	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.49253658378499E-5	0.002
18	47323972	A	T	18	49797602	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.47848303684556E-4	0.042
18	47323973	G	A	18	49797603	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.82103962723579E-5	0.002
18	47323973	G	C	18	49797603	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.03933818875286E-4	0.032
18	47323973	G	T	18	49797603	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.29367897133774E-4	0.022
18	47323974	A	C	18	49797604	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	9.77797150871808E-4	0.282
18	47323974	A	G	18	49797604	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.68880364405775E-4	0.008
18	47323974	A	T	18	49797604	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00218714300461646	0.216
18	47323975	G	A	18	49797605	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.10169847388725E-5	0.002
18	47323975	G	C	18	49797605	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.24184174720738E-5	0.016
18	47323975	G	T	18	49797605	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.98039261946165E-5	0.028
18	47323976	A	C	18	49797606	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.37548121565508E-4	0.134
18	47323976	A	G	18	49797606	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.26413734312744E-4	0.016
18	47323976	A	T	18	49797606	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	7.36217315763044E-4	0.134
18	47329049	C	A	18	49802679	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.23888596527552E-5	0.0
18	47329049	C	G	18	49802679	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.23888596527552E-5	0.0
18	47329049	C	T	18	49802679	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.23888596527552E-5	0.0
18	47329050	T	A	18	49802680	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.3051325895642E-5	0.042
18	47329050	T	C	18	49802680	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.10589134541874E-5	0.05
18	47329050	T	G	18	49802680	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.1720466914484E-6	0.002
18	47329051	A	C	18	49802681	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0429167892367507	0.384
18	47329051	A	G	18	49802681	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.929507842994094	0.674
18	47329051	A	T	18	49802681	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.3421966309119	0.54
18	47329052	C	A	18	49802682	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999868496342159	0.922
18	47329052	C	G	18	49802682	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999858980189891	0.866
18	47329052	C	T	18	49802682	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999781989805907	0.944
18	47329053	T	A	18	49802683	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.226999038532377	0.41
18	47329053	T	C	18	49802683	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0679643447293873	0.456
18	47329053	T	G	18	49802683	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0634199724169911	0.514
18	47329054	A	C	18	49802684	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.93615693431635E-5	0.116
18	47329054	A	G	18	49802684	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.85974177566125E-5	0.02
18	47329054	A	T	18	49802684	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.62553694830195E-4	0.104
18	47329055	A	C	18	49802685	y	y	splicing	ACAA2(NM_006111:exon3:c.183+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.183+2T>G;ENST00000589432:exon3:c.18+2T>G;ENST00000587994:exon3:c.174+2T>G;ENST00000586485:exon3:c.18+2T>G;ENST00000585948:exon3:c.18+2T>G;ENST00000586100:exon3:c.18+2T>G);ENSG00000266997(ENST00000590532:exon6:c.718+2T>G)	.	.	0.99994568797423	0.948
18	47329055	A	G	18	49802685	y	y	splicing	ACAA2(NM_006111:exon3:c.183+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.183+2T>C;ENST00000589432:exon3:c.18+2T>C;ENST00000587994:exon3:c.174+2T>C;ENST00000586485:exon3:c.18+2T>C;ENST00000585948:exon3:c.18+2T>C;ENST00000586100:exon3:c.18+2T>C);ENSG00000266997(ENST00000590532:exon6:c.718+2T>C)	.	.	0.952527091078767	0.714
18	47329055	A	T	18	49802685	y	y	splicing	ACAA2(NM_006111:exon3:c.183+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.183+2T>A;ENST00000589432:exon3:c.18+2T>A;ENST00000587994:exon3:c.174+2T>A;ENST00000586485:exon3:c.18+2T>A;ENST00000585948:exon3:c.18+2T>A;ENST00000586100:exon3:c.18+2T>A);ENSG00000266997(ENST00000590532:exon6:c.718+2T>A)	.	.	0.99994568797423	0.944
18	47329056	C	A	18	49802686	y	y	splicing	ACAA2(NM_006111:exon3:c.183+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.183+1G>T;ENST00000589432:exon3:c.18+1G>T;ENST00000587994:exon3:c.174+1G>T;ENST00000586485:exon3:c.18+1G>T;ENST00000585948:exon3:c.18+1G>T;ENST00000586100:exon3:c.18+1G>T);ENSG00000266997(ENST00000590532:exon6:c.718+1G>T)	.	.	0.99995545544995	0.934
18	47329056	C	G	18	49802686	y	y	splicing	ACAA2(NM_006111:exon3:c.183+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.183+1G>C;ENST00000589432:exon3:c.18+1G>C;ENST00000587994:exon3:c.174+1G>C;ENST00000586485:exon3:c.18+1G>C;ENST00000585948:exon3:c.18+1G>C;ENST00000586100:exon3:c.18+1G>C);ENSG00000266997(ENST00000590532:exon6:c.718+1G>C)	.	.	0.99995545544995	0.94
18	47329056	C	T	18	49802686	y	y	splicing	ACAA2(NM_006111:exon3:c.183+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.183+1G>A;ENST00000589432:exon3:c.18+1G>A;ENST00000587994:exon3:c.174+1G>A;ENST00000586485:exon3:c.18+1G>A;ENST00000585948:exon3:c.18+1G>A;ENST00000586100:exon3:c.18+1G>A);ENSG00000266997(ENST00000590532:exon6:c.718+1G>A)	.	.	0.99995545544995	0.934
18	47329057	C	A	18	49802687	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.G183T:p.Q61H;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon2:c.G18T:p.Q6H;ENSG00000167315:ENST00000586485:exon2:c.G18T:p.Q6H;ENSG00000167315:ENST00000585948:exon2:c.G18T:p.Q6H;ENSG00000167315:ENST00000285093:exon2:c.G183T:p.Q61H;ENSG00000167315:ENST00000587994:exon2:c.G174T:p.Q58H;ENSG00000167315:ENST00000589432:exon2:c.G18T:p.Q6H;	0.999966627421433	0.986
18	47329057	C	G	18	49802687	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.G183C:p.Q61H;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon2:c.G18C:p.Q6H;ENSG00000167315:ENST00000586485:exon2:c.G18C:p.Q6H;ENSG00000167315:ENST00000585948:exon2:c.G18C:p.Q6H;ENSG00000167315:ENST00000285093:exon2:c.G183C:p.Q61H;ENSG00000167315:ENST00000587994:exon2:c.G174C:p.Q58H;ENSG00000167315:ENST00000589432:exon2:c.G18C:p.Q6H;	0.999989981437573	0.998
18	47329057	C	T	18	49802687	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon2:c.G183A:p.Q61Q;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000586100:exon2:c.G18A:p.Q6Q;ENSG00000167315:ENST00000586485:exon2:c.G18A:p.Q6Q;ENSG00000167315:ENST00000585948:exon2:c.G18A:p.Q6Q;ENSG00000167315:ENST00000285093:exon2:c.G183A:p.Q61Q;ENSG00000167315:ENST00000587994:exon2:c.G174A:p.Q58Q;ENSG00000167315:ENST00000589432:exon2:c.G18A:p.Q6Q;	0.999723443283898	0.968
18	47329058	T	A	18	49802688	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.A182T:p.Q61L;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon2:c.A17T:p.Q6L;ENSG00000167315:ENST00000586485:exon2:c.A17T:p.Q6L;ENSG00000167315:ENST00000585948:exon2:c.A17T:p.Q6L;ENSG00000167315:ENST00000285093:exon2:c.A182T:p.Q61L;ENSG00000167315:ENST00000587994:exon2:c.A173T:p.Q58L;ENSG00000167315:ENST00000589432:exon2:c.A17T:p.Q6L;	0.999595001489314	0.982
18	47329058	T	C	18	49802688	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.A182G:p.Q61R;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon2:c.A17G:p.Q6R;ENSG00000167315:ENST00000586485:exon2:c.A17G:p.Q6R;ENSG00000167315:ENST00000585948:exon2:c.A17G:p.Q6R;ENSG00000167315:ENST00000285093:exon2:c.A182G:p.Q61R;ENSG00000167315:ENST00000587994:exon2:c.A173G:p.Q58R;ENSG00000167315:ENST00000589432:exon2:c.A17G:p.Q6R;	0.999849837685275	0.996
18	47329058	T	G	18	49802688	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.A182C:p.Q61P;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon2:c.A17C:p.Q6P;ENSG00000167315:ENST00000586485:exon2:c.A17C:p.Q6P;ENSG00000167315:ENST00000585948:exon2:c.A17C:p.Q6P;ENSG00000167315:ENST00000285093:exon2:c.A182C:p.Q61P;ENSG00000167315:ENST00000587994:exon2:c.A173C:p.Q58P;ENSG00000167315:ENST00000589432:exon2:c.A17C:p.Q6P;	0.934845820885041	0.768
18	47329059	G	A	18	49802689	y	y	exonic	ACAA2	stopgain SNV	ACAA2:NM_006111:exon2:c.C181T:p.Q61X;	exonic	ENSG00000167315	stopgain SNV	ENSG00000167315:ENST00000586100:exon2:c.C16T:p.Q6X;ENSG00000167315:ENST00000586485:exon2:c.C16T:p.Q6X;ENSG00000167315:ENST00000585948:exon2:c.C16T:p.Q6X;ENSG00000167315:ENST00000285093:exon2:c.C181T:p.Q61X;ENSG00000167315:ENST00000587994:exon2:c.C172T:p.Q58X;ENSG00000167315:ENST00000589432:exon2:c.C16T:p.Q6X;	0.998311137602579	0.822
18	47329059	G	C	18	49802689	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.C181G:p.Q61E;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon2:c.C16G:p.Q6E;ENSG00000167315:ENST00000586485:exon2:c.C16G:p.Q6E;ENSG00000167315:ENST00000585948:exon2:c.C16G:p.Q6E;ENSG00000167315:ENST00000285093:exon2:c.C181G:p.Q61E;ENSG00000167315:ENST00000587994:exon2:c.C172G:p.Q58E;ENSG00000167315:ENST00000589432:exon2:c.C16G:p.Q6E;	0.970120647455137	0.664
18	47329059	G	T	18	49802689	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.C181A:p.Q61K;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000586100:exon2:c.C16A:p.Q6K;ENSG00000167315:ENST00000586485:exon2:c.C16A:p.Q6K;ENSG00000167315:ENST00000585948:exon2:c.C16A:p.Q6K;ENSG00000167315:ENST00000285093:exon2:c.C181A:p.Q61K;ENSG00000167315:ENST00000587994:exon2:c.C172A:p.Q58K;ENSG00000167315:ENST00000589432:exon2:c.C16A:p.Q6K;	0.965746709037604	0.802
18	47329222	A	C	18	49802852	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon2:c.T18G:p.G6G;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon2:c.T18G:p.G6G;ENSG00000167315:ENST00000587994:exon2:c.T9G:p.G3G;	0.0060283609368346	0.15
18	47329222	A	G	18	49802852	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon2:c.T18C:p.G6G;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon2:c.T18C:p.G6G;ENSG00000167315:ENST00000587994:exon2:c.T9C:p.G3G;	0.00787665661436156	0.13
18	47329222	A	T	18	49802852	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon2:c.T18A:p.G6G;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon2:c.T18A:p.G6G;ENSG00000167315:ENST00000587994:exon2:c.T9A:p.G3G;	0.0164791253433572	0.158
18	47329223	C	A	18	49802853	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.G17T:p.G6V;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon2:c.G17T:p.G6V;ENSG00000167315:ENST00000587994:exon2:c.G8T:p.G3V;	0.999923010168795	0.998
18	47329223	C	G	18	49802853	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.G17C:p.G6A;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon2:c.G17C:p.G6A;ENSG00000167315:ENST00000587994:exon2:c.G8C:p.G3A;	0.998688268890146	0.938
18	47329223	C	T	18	49802853	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon2:c.G17A:p.G6D;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon2:c.G17A:p.G6D;ENSG00000167315:ENST00000587994:exon2:c.G8A:p.G3D;	0.936005053159134	0.722
18	47329224	C	A	18	49802854	y	y	splicing	ACAA2(NM_006111:exon3:c.17-1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.17-1G>T;ENST00000587994:exon3:c.8-1G>T);ENSG00000266997(ENST00000590532:exon6:c.552-1G>T)	.	.	0.999933757597683	0.948
18	47329224	C	G	18	49802854	y	y	splicing	ACAA2(NM_006111:exon3:c.17-1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.17-1G>C;ENST00000587994:exon3:c.8-1G>C);ENSG00000266997(ENST00000590532:exon6:c.552-1G>C)	.	.	0.999933757597683	0.946
18	47329224	C	T	18	49802854	y	y	splicing	ACAA2(NM_006111:exon3:c.17-1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.17-1G>A;ENST00000587994:exon3:c.8-1G>A);ENSG00000266997(ENST00000590532:exon6:c.552-1G>A)	.	.	0.999933757597683	0.948
18	47329225	T	A	18	49802855	y	y	splicing	ACAA2(NM_006111:exon3:c.17-2A>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.17-2A>T;ENST00000587994:exon3:c.8-2A>T);ENSG00000266997(ENST00000590532:exon6:c.552-2A>T)	.	.	0.999946188727699	0.934
18	47329225	T	C	18	49802855	y	y	splicing	ACAA2(NM_006111:exon3:c.17-2A>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.17-2A>G;ENST00000587994:exon3:c.8-2A>G);ENSG00000266997(ENST00000590532:exon6:c.552-2A>G)	.	.	0.999964896440643	0.932
18	47329225	T	G	18	49802855	y	y	splicing	ACAA2(NM_006111:exon3:c.17-2A>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon3:c.17-2A>C;ENST00000587994:exon3:c.8-2A>C);ENSG00000266997(ENST00000590532:exon6:c.552-2A>C)	.	.	0.999964896440643	0.932
18	47329226	A	C	18	49802856	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.867140905756605	0.698
18	47329226	A	G	18	49802856	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.7046014148968E-5	0.002
18	47329226	A	T	18	49802856	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0184717304313394	0.294
18	47329227	T	A	18	49802857	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	9.19681531537582E-5	0.012
18	47329227	T	C	18	49802857	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.995217433112193	0.848
18	47329227	T	G	18	49802857	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	5.78810720258738E-5	0.034
18	47329228	T	A	18	49802858	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.0339865194947E-5	0.0
18	47329228	T	C	18	49802858	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.48214787399098E-5	0.0
18	47329228	T	G	18	49802858	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.11554899874202E-5	0.0
18	47329229	G	A	18	49802859	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.06394866462468E-5	0.0
18	47329229	G	C	18	49802859	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00298085570207934	0.12
18	47329229	G	T	18	49802859	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00172854878047019	0.136
18	47329230	C	A	18	49802860	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.58800609919459E-5	0.0
18	47329230	C	G	18	49802860	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	8.3031428035608E-5	0.0
18	47329230	C	T	18	49802860	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	9.06727564000478E-5	0.018
18	47329231	A	C	18	49802861	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00411949267463434	0.268
18	47329231	A	G	18	49802861	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	9.5094667425385E-5	0.002
18	47329231	A	T	18	49802861	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999804572808642	0.956
18	47329232	A	C	18	49802862	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00845602233225203	0.244
18	47329232	A	G	18	49802862	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00223524921142541	0.086
18	47329232	A	T	18	49802862	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0243992751447061	0.266
18	47329233	C	A	18	49802863	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.27219349862041E-5	0.002
18	47329233	C	G	18	49802863	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.20175216104126E-5	0.0
18	47329233	C	T	18	49802863	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.71701162406959E-5	0.002
18	47329234	A	C	18	49802864	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.101620277843272	0.448
18	47329234	A	G	18	49802864	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	7.30398483932997E-5	0.056
18	47329234	A	T	18	49802864	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.997143989246086	0.872
18	47329235	A	C	18	49802865	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.0141328001715424	0.312
18	47329235	A	G	18	49802865	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00104690592785757	0.034
18	47329235	A	T	18	49802865	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.026772777246052	0.444
18	47339087	A	C	18	49812717	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.54291542054858E-4	0.0
18	47339087	A	G	18	49812717	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.54291542054858E-4	0.0
18	47339087	A	T	18	49812717	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.67864951622834E-4	0.0
18	47339088	A	C	18	49812718	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.8042999492716E-5	0.004
18	47339088	A	G	18	49812718	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.8042999492716E-5	0.004
18	47339088	A	T	18	49812718	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.8042999492716E-5	0.004
18	47339089	C	A	18	49812719	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.29786743479643E-5	0.006
18	47339089	C	G	18	49812719	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.29786743479643E-5	0.006
18	47339089	C	T	18	49812719	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.29786743479643E-5	0.006
18	47339090	C	A	18	49812720	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	7.42544334184685E-5	0.008
18	47339090	C	G	18	49812720	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	7.42544334184685E-5	0.008
18	47339090	C	T	18	49812720	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	7.42544334184685E-5	0.01
18	47339091	C	A	18	49812721	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.25524929795369E-5	0.002
18	47339091	C	G	18	49812721	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	1.46004206284423E-5	0.0
18	47339091	C	T	18	49812721	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.25524929795369E-5	0.0
18	47339092	C	A	18	49812722	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.78864525412067E-5	0.0
18	47339092	C	G	18	49812722	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.78864525412067E-5	0.0
18	47339092	C	T	18	49812722	n	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	4.08802802279601E-5	0.0
18	47339093	A	C	18	49812723	n	y	intronic	ACAA2	.	.	splicing	ENSG00000167315	.	.	6.83891202920338E-5	0.012
18	47339093	A	G	18	49812723	n	y	intronic	ACAA2	.	.	splicing	ENSG00000167315	.	.	6.83891202920338E-5	0.012
18	47339093	A	T	18	49812723	n	y	intronic	ACAA2	.	.	splicing	ENSG00000167315	.	.	6.83891202920338E-5	0.002
18	47339094	C	A	18	49812724	n	y	intronic	ACAA2	.	.	splicing	ENSG00000167315	.	.	7.42544334184685E-5	0.096
18	47339094	C	G	18	49812724	n	y	intronic	ACAA2	.	.	splicing	ENSG00000167315	.	.	7.42544334184685E-5	0.008
18	47339094	C	T	18	49812724	n	y	intronic	ACAA2	.	.	splicing	ENSG00000167315	.	.	5.5529151830241E-5	0.0
18	47339095	C	A	18	49812725	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.41863113010999E-4	0.034
18	47339095	C	G	18	49812725	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.41863113010999E-4	0.034
18	47339095	C	T	18	49812725	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.41863113010999E-4	0.034
18	47339096	T	A	18	49812726	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.5480235718294E-5	0.002
18	47339096	T	C	18	49812726	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.5480235718294E-5	0.002
18	47339096	T	G	18	49812726	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.5480235718294E-5	0.002
18	47339097	T	A	18	49812727	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.5480235718294E-5	0.002
18	47339097	T	C	18	49812727	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.5480235718294E-5	0.002
18	47339097	T	G	18	49812727	n	y	intronic	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.5480235718294E-5	0.002
18	47339831	G	A	18	49813461	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	8.09710483763739E-4	0.03
18	47339831	G	C	18	49813461	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	3.00157306748348E-4	0.056
18	47339831	G	T	18	49813461	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00116995985089352	0.026
18	47339832	C	A	18	49813462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	6.66055746852304E-5	0.0
18	47339832	C	G	18	49813462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.03069013336588E-4	0.004
18	47339832	C	T	18	49813462	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.03069013336588E-4	0.0
18	47339833	G	A	18	49813463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	2.5942752319698E-4	0.072
18	47339833	G	C	18	49813463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00114352039683132	0.052
18	47339833	G	T	18	49813463	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.00190421219480835	0.126
18	47339834	C	A	18	49813464	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.998942619591975	0.886
18	47339834	C	G	18	49813464	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.99777365671965	0.92
18	47339834	C	T	18	49813464	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.996649335243146	0.89
18	47339835	T	A	18	49813465	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.99943974680485	0.874
18	47339835	T	C	18	49813465	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999486379006801	0.886
18	47339835	T	G	18	49813465	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999097917359687	0.894
18	47339836	C	A	18	49813466	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999238391465979	0.77
18	47339836	C	G	18	49813466	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.999451082044075	0.9
18	47339836	C	T	18	49813466	y	y	intronic	ACAA2	.	.	intronic	ENSG00000167315;ENSG00000266997	.	.	0.609675067324697	0.466
18	47339837	A	C	18	49813467	y	y	splicing	ACAA2(NM_006111:exon2:c.16+2T>G)	.	.	splicing	ENSG00000167315(ENST00000285093:exon2:c.16+2T>G)	.	.	0.999993519952936	0.93
18	47339837	A	G	18	49813467	y	y	splicing	ACAA2(NM_006111:exon2:c.16+2T>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon2:c.16+2T>C)	.	.	0.999958563240378	0.862
18	47339837	A	T	18	49813467	y	y	splicing	ACAA2(NM_006111:exon2:c.16+2T>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon2:c.16+2T>A)	.	.	0.999993519952936	0.93
18	47339838	C	A	18	49813468	y	y	splicing	ACAA2(NM_006111:exon2:c.16+1G>T)	.	.	splicing	ENSG00000167315(ENST00000285093:exon2:c.16+1G>T)	.	.	0.999988247793601	0.932
18	47339838	C	G	18	49813468	y	y	splicing	ACAA2(NM_006111:exon2:c.16+1G>C)	.	.	splicing	ENSG00000167315(ENST00000285093:exon2:c.16+1G>C)	.	.	0.999988247793601	0.932
18	47339838	C	T	18	49813468	y	y	splicing	ACAA2(NM_006111:exon2:c.16+1G>A)	.	.	splicing	ENSG00000167315(ENST00000285093:exon2:c.16+1G>A)	.	.	0.999988247793601	0.932
18	47339839	C	A	18	49813469	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon1:c.G16T:p.G6C;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.G16T:p.G6C;	0.999973857408648	0.99
18	47339839	C	G	18	49813469	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon1:c.G16C:p.G6R;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.G16C:p.G6R;	0.999998325083189	0.97
18	47339839	C	T	18	49813469	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon1:c.G16A:p.G6S;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.G16A:p.G6S;	0.99996173072519	0.994
18	47339840	T	A	18	49813470	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon1:c.A15T:p.R5R;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.A15T:p.R5R;	0.997419173486146	0.88
18	47339840	T	C	18	49813470	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon1:c.A15G:p.R5R;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.A15G:p.R5R;	0.997474118982165	0.924
18	47339840	T	G	18	49813470	y	y	exonic	ACAA2	synonymous SNV	ACAA2:NM_006111:exon1:c.A15C:p.R5R;	exonic	ENSG00000167315	synonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.A15C:p.R5R;	0.995591795298806	0.906
18	47339841	C	A	18	49813471	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon1:c.G14T:p.R5L;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.G14T:p.R5L;	0.856272029814323	0.658
18	47339841	C	G	18	49813471	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon1:c.G14C:p.R5P;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.G14C:p.R5P;	0.697450524059915	0.688
18	47339841	C	T	18	49813471	y	y	exonic	ACAA2	nonsynonymous SNV	ACAA2:NM_006111:exon1:c.G14A:p.R5Q;	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000285093:exon1:c.G14A:p.R5Q;	0.620116996301776	0.704
18	47340044	C	A	18	49813674	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	5.67891142965171E-5	0.002
18	47340044	C	G	18	49813674	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	3.951189346585E-5	0.002
18	47340044	C	T	18	49813674	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	5.67891142965171E-5	0.002
18	47340045	G	A	18	49813675	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.01315188657279E-5	0.0
18	47340045	G	C	18	49813675	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.01315188657279E-5	0.0
18	47340045	G	T	18	49813675	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.01315188657279E-5	0.0
18	47340046	C	A	18	49813676	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	5.69439264402225E-5	0.0
18	47340046	C	G	18	49813676	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	5.69439264402225E-5	0.0
18	47340046	C	T	18	49813676	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	5.69439264402225E-5	0.0
18	47340047	C	A	18	49813677	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	6.35428655471156E-5	0.002
18	47340047	C	G	18	49813677	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	6.35428655471156E-5	0.002
18	47340047	C	T	18	49813677	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	6.35428655471156E-5	0.002
18	47340048	T	A	18	49813678	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.21649339220785E-5	0.0
18	47340048	T	C	18	49813678	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	3.82035599739421E-5	0.002
18	47340048	T	G	18	49813678	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	3.82035599739421E-5	0.0
18	47340049	C	A	18	49813679	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	9.39083642728588E-5	0.0
18	47340049	C	G	18	49813679	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	9.39083642728588E-5	0.0
18	47340049	C	T	18	49813679	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	5.16682635439002E-5	0.0
18	47340050	A	C	18	49813680	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315	.	.	5.40839623268995E-5	0.0
18	47340050	A	G	18	49813680	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315	.	.	5.40839623268995E-5	0.0
18	47340050	A	T	18	49813680	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315	.	.	5.40839623268995E-5	0.0
18	47340051	C	A	18	49813681	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315	.	.	3.15267776820636E-5	0.0
18	47340051	C	G	18	49813681	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315	.	.	3.15267776820636E-5	0.0
18	47340051	C	T	18	49813681	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315	.	.	6.53805172076537E-5	0.0
18	47340052	C	A	18	49813682	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.01315188657279E-5	0.0
18	47340052	C	G	18	49813682	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	6.35428655471156E-5	0.0
18	47340052	C	T	18	49813682	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.01315188657279E-5	0.0
18	47340053	C	A	18	49813683	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.19523722086209E-5	0.0
18	47340053	C	G	18	49813683	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.62500938860321E-5	0.004
18	47340053	C	T	18	49813683	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.19523722086209E-5	0.0
18	47340054	C	A	18	49813684	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.90028566392549E-5	0.002
18	47340054	C	G	18	49813684	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.90028566392549E-5	0.002
18	47340054	C	T	18	49813684	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	4.90028566392549E-5	0.002
18	47340179	C	A	18	49813809	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	8.74094660865297E-5	0.0
18	47340179	C	G	18	49813809	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.91977281725624E-5	0.0
18	47340179	C	T	18	49813809	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	8.74094660865297E-5	0.0
18	47340180	C	A	18	49813810	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	6.20279124519223E-5	0.0
18	47340180	C	G	18	49813810	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	6.20279124519223E-5	0.0
18	47340180	C	T	18	49813810	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	1.12736331027192E-4	0.0
18	47340181	T	A	18	49813811	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.01315188657279E-5	0.002
18	47340181	T	C	18	49813811	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.01315188657279E-5	0.002
18	47340181	T	G	18	49813811	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	7.01315188657279E-5	0.002
18	47340182	C	A	18	49813812	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	0.00109144849427603	0.012
18	47340182	C	G	18	49813812	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	0.00109144849427603	0.014
18	47340182	C	T	18	49813812	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	0.00161864645900532	0.018
18	47340183	T	A	18	49813813	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	2.93008933363103E-5	0.0
18	47340183	T	C	18	49813813	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	2.93008933363103E-5	0.0
18	47340183	T	G	18	49813813	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	2.93008933363103E-5	0.0
18	47340184	C	A	18	49813814	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	1.0402190891768E-4	0.0
18	47340184	C	G	18	49813814	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	1.0402190891768E-4	0.0
18	47340184	C	T	18	49813814	n	y	UTR5	ACAA2	.	.	UTR5	ENSG00000167315	.	.	1.0402190891768E-4	0.002
18	47340185	A	C	18	49813815	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315(ENST00000587994:exon2:c.7+2T>G)	.	.	6.46844991217429E-5	0.0
18	47340185	A	G	18	49813815	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315(ENST00000587994:exon2:c.7+2T>C)	.	.	6.46844991217429E-5	0.0
18	47340185	A	T	18	49813815	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315(ENST00000587994:exon2:c.7+2T>A)	.	.	6.46844991217429E-5	0.0
18	47340186	C	A	18	49813816	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315(ENST00000587994:exon2:c.7+1G>T)	.	.	6.25580661932895E-5	0.012
18	47340186	C	G	18	49813816	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315(ENST00000587994:exon2:c.7+1G>C)	.	.	6.25580661932895E-5	0.01
18	47340186	C	T	18	49813816	n	y	UTR5	ACAA2	.	.	splicing	ENSG00000167315(ENST00000587994:exon2:c.7+1G>A)	.	.	6.25580661932895E-5	0.01
18	47340187	C	A	18	49813817	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.G7T:p.G3C;	8.30945796578933E-5	0.0
18	47340187	C	G	18	49813817	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.G7C:p.G3R;	8.30945796578933E-5	0.0
18	47340187	C	T	18	49813817	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.G7A:p.G3S;	1.40940918270023E-4	0.0
18	47340188	C	A	18	49813818	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.G6T:p.M2I;	1.02337758398172E-4	0.0
18	47340188	C	G	18	49813818	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.G6C:p.M2I;	1.02337758398172E-4	0.0
18	47340188	C	T	18	49813818	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.G6A:p.M2I;	1.02337758398172E-4	0.0
18	47340189	A	C	18	49813819	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.T5G:p.M2R;	1.40940918270023E-4	0.002
18	47340189	A	G	18	49813819	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.T5C:p.M2T;	1.40940918270023E-4	0.0
18	47340189	A	T	18	49813819	n	y	UTR5	ACAA2	.	.	exonic	ENSG00000167315	nonsynonymous SNV	ENSG00000167315:ENST00000587994:exon1:c.T5A:p.M2K;	1.40940918270023E-4	0.0
18	47352798	T	A	18	49826428	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	1.38511446188456E-4	0.002
18	47352798	T	C	18	49826428	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	8.46054017672216E-5	0.0
18	47352798	T	G	18	49826428	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	8.46054017672216E-5	0.0
18	47352799	T	A	18	49826429	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	1.12581597765867E-4	0.0
18	47352799	T	C	18	49826429	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	4.19523722086209E-5	0.0
18	47352799	T	G	18	49826429	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	4.19523722086209E-5	0.0
18	47352800	G	A	18	49826430	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	0.0106305152589279	0.03
18	47352800	G	C	18	49826430	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	0.00720842856246748	0.028
18	47352800	G	T	18	49826430	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	0.00720842856246748	0.038
18	47352801	C	A	18	49826431	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	7.18924664478357E-5	0.004
18	47352801	C	G	18	49826431	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	7.18924664478357E-5	0.004
18	47352801	C	T	18	49826431	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	7.18924664478357E-5	0.004
18	47352802	T	A	18	49826432	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	9.74046797087874E-5	0.004
18	47352802	T	C	18	49826432	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	9.74046797087874E-5	0.004
18	47352802	T	G	18	49826432	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	9.74046797087874E-5	0.004
18	47352803	C	A	18	49826433	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	1.90729588515235E-5	0.002
18	47352803	C	G	18	49826433	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	1.90729588515235E-5	0.002
18	47352803	C	T	18	49826433	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306	.	.	3.53861234471585E-5	0.002
18	47352804	A	C	18	49826434	n	y	UTR3	MYO5B	.	.	splicing	ENSG00000266997(ENST00000590532:exon5:c.551+2T>G)	.	.	3.75274067003406E-5	0.0
18	47352804	A	G	18	49826434	n	y	UTR3	MYO5B	.	.	splicing	ENSG00000266997(ENST00000590532:exon5:c.551+2T>C)	.	.	3.75274067003406E-5	0.0
18	47352804	A	T	18	49826434	n	y	UTR3	MYO5B	.	.	splicing	ENSG00000266997(ENST00000590532:exon5:c.551+2T>A)	.	.	3.75274067003406E-5	0.0
18	47352805	C	A	18	49826435	n	y	UTR3	MYO5B	.	.	splicing	ENSG00000266997(ENST00000590532:exon5:c.551+1G>T)	.	.	1.36222343811113E-4	0.016
18	47352805	C	G	18	49826435	n	y	UTR3	MYO5B	.	.	splicing	ENSG00000266997(ENST00000590532:exon5:c.551+1G>C)	.	.	1.36222343811113E-4	0.016
18	47352805	C	T	18	49826435	n	y	UTR3	MYO5B	.	.	splicing	ENSG00000266997(ENST00000590532:exon5:c.551+1G>A)	.	.	2.23008612738095E-4	0.018
18	47352806	A	C	18	49826436	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	1.12581597765867E-4	0.0
18	47352806	A	G	18	49826436	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	1.12581597765867E-4	0.0
18	47352806	A	T	18	49826436	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	1.3099781559464E-4	0.0
18	47352807	T	A	18	49826437	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	8.18429645671592E-5	0.002
18	47352807	T	C	18	49826437	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	5.69439264402225E-5	0.002
18	47352807	T	G	18	49826437	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	5.69439264402225E-5	0.002
18	47352808	T	A	18	49826438	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	1.38511446188456E-4	0.004
18	47352808	T	C	18	49826438	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	8.46054017672216E-5	0.0
18	47352808	T	G	18	49826438	n	y	UTR3	MYO5B	.	.	ncRNA_UTR3	ENSG00000167306;ENSG00000266997	.	.	8.46054017672216E-5	0.0
18	47352992	G	A	18	49826622	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon40:c.C5396T:p.A1799V;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon40:c.C5396T:p.A1799V;ENSG00000167306:ENST00000324581:exon19:c.C2741T:p.A914V;ENSG00000167306:ENST00000592688:exon9:c.C1106T:p.A369V;ENSG00000266997:ENST00000590532:exon4:c.C365T:p.A122V;	0.532390960019846	0.654
18	47352992	G	C	18	49826622	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon40:c.C5396G:p.A1799G;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon40:c.C5396G:p.A1799G;ENSG00000167306:ENST00000324581:exon19:c.C2741G:p.A914G;ENSG00000167306:ENST00000592688:exon9:c.C1106G:p.A369G;ENSG00000266997:ENST00000590532:exon4:c.C365G:p.A122G;	0.672094712227013	0.608
18	47352992	G	T	18	49826622	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon40:c.C5396A:p.A1799E;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon40:c.C5396A:p.A1799E;ENSG00000167306:ENST00000324581:exon19:c.C2741A:p.A914E;ENSG00000167306:ENST00000592688:exon9:c.C1106A:p.A369E;ENSG00000266997:ENST00000590532:exon4:c.C365A:p.A122E;	0.0410793819238282	0.076
18	47352993	C	A	18	49826623	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon40:c.G5395T:p.A1799S;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon40:c.G5395T:p.A1799S;ENSG00000167306:ENST00000324581:exon19:c.G2740T:p.A914S;ENSG00000167306:ENST00000592688:exon9:c.G1105T:p.A369S;ENSG00000266997:ENST00000590532:exon4:c.G364T:p.A122S;	0.680117782006584	0.436
18	47352993	C	G	18	49826623	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon40:c.G5395C:p.A1799P;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon40:c.G5395C:p.A1799P;ENSG00000167306:ENST00000324581:exon19:c.G2740C:p.A914P;ENSG00000167306:ENST00000592688:exon9:c.G1105C:p.A369P;ENSG00000266997:ENST00000590532:exon4:c.G364C:p.A122P;	0.999249495683408	0.852
18	47352993	C	T	18	49826623	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon40:c.G5395A:p.A1799T;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon40:c.G5395A:p.A1799T;ENSG00000167306:ENST00000324581:exon19:c.G2740A:p.A914T;ENSG00000167306:ENST00000592688:exon9:c.G1105A:p.A369T;ENSG00000266997:ENST00000590532:exon4:c.G364A:p.A122T;	0.175822744030843	0.456
18	47352994	C	A	18	49826624	y	y	splicing	MYO5B(NM_001080467:exon41:c.5395-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon41:c.5395-1G>T;ENST00000324581:exon20:c.2740-1G>T;ENST00000592779:exon21:c.2748-1G>T;ENST00000592688:exon10:c.1105-1G>T);ENSG00000266997(ENST00000590532:exon5:c.364-1G>T)	.	.	0.99995545544995	0.934
18	47352994	C	G	18	49826624	y	y	splicing	MYO5B(NM_001080467:exon41:c.5395-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon41:c.5395-1G>C;ENST00000324581:exon20:c.2740-1G>C;ENST00000592779:exon21:c.2748-1G>C;ENST00000592688:exon10:c.1105-1G>C);ENSG00000266997(ENST00000590532:exon5:c.364-1G>C)	.	.	0.99995545544995	0.936
18	47352994	C	T	18	49826624	y	y	splicing	MYO5B(NM_001080467:exon41:c.5395-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon41:c.5395-1G>A;ENST00000324581:exon20:c.2740-1G>A;ENST00000592779:exon21:c.2748-1G>A;ENST00000592688:exon10:c.1105-1G>A);ENSG00000266997(ENST00000590532:exon5:c.364-1G>A)	.	.	0.99995545544995	0.934
18	47352995	T	A	18	49826625	y	y	splicing	MYO5B(NM_001080467:exon41:c.5395-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon41:c.5395-2A>T;ENST00000324581:exon20:c.2740-2A>T;ENST00000592779:exon21:c.2748-2A>T;ENST00000592688:exon10:c.1105-2A>T);ENSG00000266997(ENST00000590532:exon5:c.364-2A>T)	.	.	0.99994568797423	0.934
18	47352995	T	C	18	49826625	y	y	splicing	MYO5B(NM_001080467:exon41:c.5395-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon41:c.5395-2A>G;ENST00000324581:exon20:c.2740-2A>G;ENST00000592779:exon21:c.2748-2A>G;ENST00000592688:exon10:c.1105-2A>G);ENSG00000266997(ENST00000590532:exon5:c.364-2A>G)	.	.	0.99994568797423	0.944
18	47352995	T	G	18	49826625	y	y	splicing	MYO5B(NM_001080467:exon41:c.5395-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon41:c.5395-2A>C;ENST00000324581:exon20:c.2740-2A>C;ENST00000592779:exon21:c.2748-2A>C;ENST00000592688:exon10:c.1105-2A>C);ENSG00000266997(ENST00000590532:exon5:c.364-2A>C)	.	.	0.99994568797423	0.944
18	47352996	A	C	18	49826626	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.749331143188043	0.646
18	47352996	A	G	18	49826626	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.71098735497469E-5	0.0
18	47352996	A	T	18	49826626	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00257668089528444	0.104
18	47352997	T	A	18	49826627	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.22223339973131E-5	0.018
18	47352997	T	C	18	49826627	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.57318152114276E-6	0.002
18	47352997	T	G	18	49826627	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.63185240486381E-6	0.002
18	47352998	G	A	18	49826628	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.77594549780295E-5	0.024
18	47352998	G	C	18	49826628	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.38882623194565E-4	0.074
18	47352998	G	T	18	49826628	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.84127290134767E-5	0.01
18	47352999	G	A	18	49826629	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.40547954159874E-4	0.082
18	47352999	G	C	18	49826629	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00248024188291963	0.192
18	47352999	G	T	18	49826629	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.18585455930622E-4	0.162
18	47353000	G	A	18	49826630	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.31192090187763E-5	0.002
18	47353000	G	C	18	49826630	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.94782485827389E-4	0.088
18	47353000	G	T	18	49826630	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.81139579423649E-4	0.094
18	47353001	G	A	18	49826631	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.49935502704995E-5	0.004
18	47353001	G	C	18	49826631	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.72926953156999E-5	0.01
18	47353001	G	T	18	49826631	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.37049908012958E-4	0.022
18	47353002	A	C	18	49826632	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.06577645904757E-4	0.172
18	47353002	A	G	18	49826632	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.85771204525337E-4	0.008
18	47353002	A	T	18	49826632	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.57921774042856E-4	0.144
18	47353003	A	C	18	49826633	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.38490295954918E-4	0.16
18	47353003	A	G	18	49826633	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.46960325317854E-4	0.008
18	47353003	A	T	18	49826633	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.25308188927424E-4	0.142
18	47353004	G	A	18	49826634	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.9935695627867E-5	0.032
18	47353004	G	C	18	49826634	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.72304706904633E-4	0.018
18	47353004	G	T	18	49826634	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00140802376550599	0.142
18	47353005	A	C	18	49826635	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.48463513340996E-4	0.172
18	47353005	A	G	18	49826635	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.88204583478221E-4	0.028
18	47353005	A	T	18	49826635	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.71170392366127E-4	0.164
18	47361706	A	C	18	49835336	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.99842234437832E-5	0.002
18	47361706	A	G	18	49835336	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.92778474604834E-5	0.0
18	47361706	A	T	18	49835336	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.70320145697717E-5	0.002
18	47361707	A	C	18	49835337	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.13891200623118E-4	0.018
18	47361707	A	G	18	49835337	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.0668595558708E-4	0.008
18	47361707	A	T	18	49835337	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.0668595558708E-4	0.002
18	47361708	A	C	18	49835338	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0334314027714141	0.222
18	47361708	A	G	18	49835338	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0620028355482242	0.364
18	47361708	A	T	18	49835338	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.156737491296534	0.416
18	47361709	C	A	18	49835339	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999856837117344	0.902
18	47361709	C	G	18	49835339	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999833876556982	0.868
18	47361709	C	T	18	49835339	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999828156995673	0.968
18	47361710	T	A	18	49835340	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.995349225353335	0.8
18	47361710	T	C	18	49835340	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.990554571611534	0.698
18	47361710	T	G	18	49835340	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.929092935611213	0.662
18	47361711	C	A	18	49835341	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0282021654587227	0.382
18	47361711	C	G	18	49835341	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0257090993138792	0.36
18	47361711	C	T	18	49835341	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.2414841234027E-5	0.02
18	47361712	A	C	18	49835342	y	y	splicing	MYO5B(NM_001080467:exon40:c.5394+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5394+2T>G;ENST00000324581:exon19:c.2739+2T>G;ENST00000592779:exon20:c.2747+2T>G;ENST00000592688:exon9:c.1104+2T>G);ENSG00000266997(ENST00000590532:exon4:c.363+2T>G)	.	.	0.999988247793601	0.932
18	47361712	A	G	18	49835342	y	y	splicing	MYO5B(NM_001080467:exon40:c.5394+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5394+2T>C;ENST00000324581:exon19:c.2739+2T>C;ENST00000592779:exon20:c.2747+2T>C;ENST00000592688:exon9:c.1104+2T>C);ENSG00000266997(ENST00000590532:exon4:c.363+2T>C)	.	.	0.999929727175276	0.866
18	47361712	A	T	18	49835342	y	y	splicing	MYO5B(NM_001080467:exon40:c.5394+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5394+2T>A;ENST00000324581:exon19:c.2739+2T>A;ENST00000592779:exon20:c.2747+2T>A;ENST00000592688:exon9:c.1104+2T>A);ENSG00000266997(ENST00000590532:exon4:c.363+2T>A)	.	.	0.999988247793601	0.932
18	47361713	C	A	18	49835343	y	y	splicing	MYO5B(NM_001080467:exon40:c.5394+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5394+1G>T;ENST00000324581:exon19:c.2739+1G>T;ENST00000592779:exon20:c.2747+1G>T;ENST00000592688:exon9:c.1104+1G>T);ENSG00000266997(ENST00000590532:exon4:c.363+1G>T)	.	.	0.999990361384395	0.938
18	47361713	C	G	18	49835343	y	y	splicing	MYO5B(NM_001080467:exon40:c.5394+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5394+1G>C;ENST00000324581:exon19:c.2739+1G>C;ENST00000592779:exon20:c.2747+1G>C;ENST00000592688:exon9:c.1104+1G>C);ENSG00000266997(ENST00000590532:exon4:c.363+1G>C)	.	.	0.999990361384395	0.938
18	47361713	C	T	18	49835343	y	y	splicing	MYO5B(NM_001080467:exon40:c.5394+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5394+1G>A;ENST00000324581:exon19:c.2739+1G>A;ENST00000592779:exon20:c.2747+1G>A;ENST00000592688:exon9:c.1104+1G>A);ENSG00000266997(ENST00000590532:exon4:c.363+1G>A)	.	.	0.999990361384395	0.938
18	47361714	C	A	18	49835344	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.G5394T:p.Q1798H;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.G5394T:p.Q1798H;ENSG00000167306:ENST00000324581:exon18:c.G2739T:p.Q913H;ENSG00000167306:ENST00000592688:exon8:c.G1104T:p.Q368H;ENSG00000266997:ENST00000590532:exon3:c.G363T:p.Q121H;	0.990970826990017	0.902
18	47361714	C	G	18	49835344	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.G5394C:p.Q1798H;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.G5394C:p.Q1798H;ENSG00000167306:ENST00000324581:exon18:c.G2739C:p.Q913H;ENSG00000167306:ENST00000592688:exon8:c.G1104C:p.Q368H;ENSG00000266997:ENST00000590532:exon3:c.G363C:p.Q121H;	0.996950728997278	0.886
18	47361714	C	T	18	49835344	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon39:c.G5394A:p.Q1798Q;	exonic	ENSG00000167306;ENSG00000266997	synonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.G5394A:p.Q1798Q;ENSG00000167306:ENST00000324581:exon18:c.G2739A:p.Q913Q;ENSG00000167306:ENST00000592688:exon8:c.G1104A:p.Q368Q;ENSG00000266997:ENST00000590532:exon3:c.G363A:p.Q121Q;	0.763946800992814	0.602
18	47361715	T	A	18	49835345	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.A5393T:p.Q1798L;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.A5393T:p.Q1798L;ENSG00000167306:ENST00000324581:exon18:c.A2738T:p.Q913L;ENSG00000167306:ENST00000592688:exon8:c.A1103T:p.Q368L;ENSG00000266997:ENST00000590532:exon3:c.A362T:p.Q121L;	0.991821610941017	0.748
18	47361715	T	C	18	49835345	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.A5393G:p.Q1798R;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.A5393G:p.Q1798R;ENSG00000167306:ENST00000324581:exon18:c.A2738G:p.Q913R;ENSG00000167306:ENST00000592688:exon8:c.A1103G:p.Q368R;ENSG00000266997:ENST00000590532:exon3:c.A362G:p.Q121R;	0.994473834132436	0.904
18	47361715	T	G	18	49835345	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.A5393C:p.Q1798P;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.A5393C:p.Q1798P;ENSG00000167306:ENST00000324581:exon18:c.A2738C:p.Q913P;ENSG00000167306:ENST00000592688:exon8:c.A1103C:p.Q368P;ENSG00000266997:ENST00000590532:exon3:c.A362C:p.Q121P;	0.984869165642444	0.806
18	47361716	G	A	18	49835346	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon39:c.C5392T:p.Q1798X;	exonic	ENSG00000167306;ENSG00000266997	stopgain SNV	ENSG00000167306:ENST00000285039:exon39:c.C5392T:p.Q1798X;ENSG00000167306:ENST00000324581:exon18:c.C2737T:p.Q913X;ENSG00000167306:ENST00000592688:exon8:c.C1102T:p.Q368X;ENSG00000266997:ENST00000590532:exon3:c.C361T:p.Q121X;	0.998012884132283	0.806
18	47361716	G	C	18	49835346	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.C5392G:p.Q1798E;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.C5392G:p.Q1798E;ENSG00000167306:ENST00000324581:exon18:c.C2737G:p.Q913E;ENSG00000167306:ENST00000592688:exon8:c.C1102G:p.Q368E;ENSG00000266997:ENST00000590532:exon3:c.C361G:p.Q121E;	0.929521433875397	0.59
18	47361716	G	T	18	49835346	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.C5392A:p.Q1798K;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.C5392A:p.Q1798K;ENSG00000167306:ENST00000324581:exon18:c.C2737A:p.Q913K;ENSG00000167306:ENST00000592688:exon8:c.C1102A:p.Q368K;ENSG00000266997:ENST00000590532:exon3:c.C361A:p.Q121K;	0.958342556225306	0.796
18	47361793	A	C	18	49835423	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.T5315G:p.I1772S;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.T5315G:p.I1772S;ENSG00000167306:ENST00000324581:exon18:c.T2660G:p.I887S;ENSG00000167306:ENST00000592688:exon8:c.T1025G:p.I342S;ENSG00000266997:ENST00000590532:exon3:c.T284G:p.I95S;	0.810605744389567	0.574
18	47361793	A	G	18	49835423	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.T5315C:p.I1772T;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.T5315C:p.I1772T;ENSG00000167306:ENST00000324581:exon18:c.T2660C:p.I887T;ENSG00000167306:ENST00000592688:exon8:c.T1025C:p.I342T;ENSG00000266997:ENST00000590532:exon3:c.T284C:p.I95T;	0.756089037326678	0.566
18	47361793	A	T	18	49835423	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.T5315A:p.I1772N;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.T5315A:p.I1772N;ENSG00000167306:ENST00000324581:exon18:c.T2660A:p.I887N;ENSG00000167306:ENST00000592688:exon8:c.T1025A:p.I342N;ENSG00000266997:ENST00000590532:exon3:c.T284A:p.I95N;	0.815272849947154	0.558
18	47361794	T	A	18	49835424	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.A5314T:p.I1772F;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.A5314T:p.I1772F;ENSG00000167306:ENST00000324581:exon18:c.A2659T:p.I887F;ENSG00000167306:ENST00000592688:exon8:c.A1024T:p.I342F;ENSG00000266997:ENST00000590532:exon3:c.A283T:p.I95F;	0.844874572830375	0.584
18	47361794	T	C	18	49835424	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.A5314G:p.I1772V;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.A5314G:p.I1772V;ENSG00000167306:ENST00000324581:exon18:c.A2659G:p.I887V;ENSG00000167306:ENST00000592688:exon8:c.A1024G:p.I342V;ENSG00000266997:ENST00000590532:exon3:c.A283G:p.I95V;	0.727391414848024	0.668
18	47361794	T	G	18	49835424	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon39:c.A5314C:p.I1772L;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon39:c.A5314C:p.I1772L;ENSG00000167306:ENST00000324581:exon18:c.A2659C:p.I887L;ENSG00000167306:ENST00000592688:exon8:c.A1024C:p.I342L;ENSG00000266997:ENST00000590532:exon3:c.A283C:p.I95L;	0.865744483872159	0.656
18	47361795	C	A	18	49835425	y	y	splicing	MYO5B(NM_001080467:exon40:c.5314-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5314-1G>T;ENST00000324581:exon19:c.2659-1G>T;ENST00000592779:exon20:c.2667-1G>T;ENST00000592688:exon9:c.1024-1G>T);ENSG00000266997(ENST00000590532:exon4:c.283-1G>T)	.	.	0.999990361384395	0.938
18	47361795	C	G	18	49835425	y	y	splicing	MYO5B(NM_001080467:exon40:c.5314-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5314-1G>C;ENST00000324581:exon19:c.2659-1G>C;ENST00000592779:exon20:c.2667-1G>C;ENST00000592688:exon9:c.1024-1G>C);ENSG00000266997(ENST00000590532:exon4:c.283-1G>C)	.	.	0.999990361384395	0.938
18	47361795	C	T	18	49835425	y	y	splicing	MYO5B(NM_001080467:exon40:c.5314-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5314-1G>A;ENST00000324581:exon19:c.2659-1G>A;ENST00000592779:exon20:c.2667-1G>A;ENST00000592688:exon9:c.1024-1G>A);ENSG00000266997(ENST00000590532:exon4:c.283-1G>A)	.	.	0.999990361384395	0.938
18	47361796	T	A	18	49835426	y	y	splicing	MYO5B(NM_001080467:exon40:c.5314-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5314-2A>T;ENST00000324581:exon19:c.2659-2A>T;ENST00000592779:exon20:c.2667-2A>T;ENST00000592688:exon9:c.1024-2A>T);ENSG00000266997(ENST00000590532:exon4:c.283-2A>T)	.	.	0.999988247793601	0.932
18	47361796	T	C	18	49835426	y	y	splicing	MYO5B(NM_001080467:exon40:c.5314-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5314-2A>G;ENST00000324581:exon19:c.2659-2A>G;ENST00000592779:exon20:c.2667-2A>G;ENST00000592688:exon9:c.1024-2A>G);ENSG00000266997(ENST00000590532:exon4:c.283-2A>G)	.	.	0.999988247793601	0.932
18	47361796	T	G	18	49835426	y	y	splicing	MYO5B(NM_001080467:exon40:c.5314-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon40:c.5314-2A>C;ENST00000324581:exon19:c.2659-2A>C;ENST00000592779:exon20:c.2667-2A>C;ENST00000592688:exon9:c.1024-2A>C);ENSG00000266997(ENST00000590532:exon4:c.283-2A>C)	.	.	0.999988247793601	0.932
18	47361797	G	A	18	49835427	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0380099967523751	0.18
18	47361797	G	C	18	49835427	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999882975764298	0.948
18	47361797	G	T	18	49835427	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.991690320275786	0.778
18	47361798	T	A	18	49835428	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0281907177131922	0.242
18	47361798	T	C	18	49835428	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.964550405125289	0.58
18	47361798	T	G	18	49835428	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0135879873904351	0.124
18	47361799	T	A	18	49835429	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.84912083145299E-4	0.014
18	47361799	T	C	18	49835429	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00159155059117824	0.028
18	47361799	T	G	18	49835429	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0013637040337764	0.04
18	47361800	G	A	18	49835430	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.88439759053897E-5	0.0
18	47361800	G	C	18	49835430	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00906140437827605	0.114
18	47361800	G	T	18	49835430	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00934262464188325	0.088
18	47361801	G	A	18	49835431	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.14505618397461E-4	0.016
18	47361801	G	C	18	49835431	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0295844680252095	0.21
18	47361801	G	T	18	49835431	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0358234927284548	0.148
18	47361802	G	A	18	49835432	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.54424137335433E-5	0.012
18	47361802	G	C	18	49835432	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.8702913133756E-4	0.054
18	47361802	G	T	18	49835432	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.62840684294395E-4	0.018
18	47361803	G	A	18	49835433	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.14146540862719E-6	0.0
18	47361803	G	C	18	49835433	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.63136567672248E-4	0.066
18	47361803	G	T	18	49835433	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00129977620496707	0.098
18	47361804	A	C	18	49835434	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.901137097133426	0.36
18	47361804	A	G	18	49835434	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.68605743601999E-5	0.014
18	47361804	A	T	18	49835434	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00993328950844901	0.206
18	47361805	T	A	18	49835435	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.62823592565789E-5	0.096
18	47361805	T	C	18	49835435	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.62640562852569E-5	0.0
18	47361805	T	G	18	49835435	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.99899626824197E-5	0.0
18	47361806	A	C	18	49835436	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00336952468628596	0.38
18	47361806	A	G	18	49835436	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.33226748236014E-5	0.002
18	47361806	A	T	18	49835436	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0768808504562089	0.482
18	47363073	G	A	18	49836703	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.0726765803738E-4	0.004
18	47363073	G	C	18	49836703	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.64179267191333E-5	0.0
18	47363073	G	T	18	49836703	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.0726765803738E-4	0.008
18	47363074	A	C	18	49836704	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.53381840309236E-5	0.002
18	47363074	A	G	18	49836704	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.01075545225857E-5	0.0
18	47363074	A	T	18	49836704	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.01075545225857E-5	0.0
18	47363075	C	A	18	49836705	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.07090311472102E-5	0.02
18	47363075	C	G	18	49836705	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.23651186564005E-4	0.008
18	47363075	C	T	18	49836705	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.6008583574405E-4	0.028
18	47363076	T	A	18	49836706	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.1156079660497E-4	0.004
18	47363076	T	C	18	49836706	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.62703394294804E-4	0.018
18	47363076	T	G	18	49836706	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.53770395898212E-5	0.01
18	47363077	G	A	18	49836707	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.74783753423856E-5	0.008
18	47363077	G	C	18	49836707	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.06742045664792E-4	0.06
18	47363077	G	T	18	49836707	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.90327403504599E-4	0.024
18	47363078	T	A	18	49836708	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.997255122248704	0.702
18	47363078	T	C	18	49836708	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.435379343826717	0.46
18	47363078	T	G	18	49836708	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999389712178712	0.726
18	47363079	A	C	18	49836709	y	y	splicing	MYO5B(NM_001080467:exon39:c.5313+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5313+2T>G;ENST00000324581:exon18:c.2658+2T>G;ENST00000592779:exon19:c.2666+2T>G;ENST00000592688:exon8:c.1023+2T>G);ENSG00000266997(ENST00000590532:exon3:c.282+2T>G)	.	.	0.999988247793601	0.926
18	47363079	A	G	18	49836709	y	y	splicing	MYO5B(NM_001080467:exon39:c.5313+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5313+2T>C;ENST00000324581:exon18:c.2658+2T>C;ENST00000592779:exon19:c.2666+2T>C;ENST00000592688:exon8:c.1023+2T>C);ENSG00000266997(ENST00000590532:exon3:c.282+2T>C)	.	.	0.992577803696025	0.636
18	47363079	A	T	18	49836709	y	y	splicing	MYO5B(NM_001080467:exon39:c.5313+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5313+2T>A;ENST00000324581:exon18:c.2658+2T>A;ENST00000592779:exon19:c.2666+2T>A;ENST00000592688:exon8:c.1023+2T>A);ENSG00000266997(ENST00000590532:exon3:c.282+2T>A)	.	.	0.999988247793601	0.926
18	47363080	C	A	18	49836710	y	y	splicing	MYO5B(NM_001080467:exon39:c.5313+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5313+1G>T;ENST00000324581:exon18:c.2658+1G>T;ENST00000592779:exon19:c.2666+1G>T;ENST00000592688:exon8:c.1023+1G>T);ENSG00000266997(ENST00000590532:exon3:c.282+1G>T)	.	.	0.999985532734767	0.936
18	47363080	C	G	18	49836710	y	y	splicing	MYO5B(NM_001080467:exon39:c.5313+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5313+1G>C;ENST00000324581:exon18:c.2658+1G>C;ENST00000592779:exon19:c.2666+1G>C;ENST00000592688:exon8:c.1023+1G>C);ENSG00000266997(ENST00000590532:exon3:c.282+1G>C)	.	.	0.999985532734767	0.936
18	47363080	C	T	18	49836710	y	y	splicing	MYO5B(NM_001080467:exon39:c.5313+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5313+1G>A;ENST00000324581:exon18:c.2658+1G>A;ENST00000592779:exon19:c.2666+1G>A;ENST00000592688:exon8:c.1023+1G>A);ENSG00000266997(ENST00000590532:exon3:c.282+1G>A)	.	.	0.999985532734767	0.936
18	47363081	C	A	18	49836711	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.G5313T:p.Q1771H;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.G5313T:p.Q1771H;ENSG00000167306:ENST00000324581:exon17:c.G2658T:p.Q886H;ENSG00000167306:ENST00000592688:exon7:c.G1023T:p.Q341H;ENSG00000266997:ENST00000590532:exon2:c.G282T:p.Q94H;	0.999992895158708	1.0
18	47363081	C	G	18	49836711	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.G5313C:p.Q1771H;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.G5313C:p.Q1771H;ENSG00000167306:ENST00000324581:exon17:c.G2658C:p.Q886H;ENSG00000167306:ENST00000592688:exon7:c.G1023C:p.Q341H;ENSG00000266997:ENST00000590532:exon2:c.G282C:p.Q94H;	0.999997424211608	1.0
18	47363081	C	T	18	49836711	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon38:c.G5313A:p.Q1771Q;	exonic	ENSG00000167306;ENSG00000266997	synonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.G5313A:p.Q1771Q;ENSG00000167306:ENST00000324581:exon17:c.G2658A:p.Q886Q;ENSG00000167306:ENST00000592688:exon7:c.G1023A:p.Q341Q;ENSG00000266997:ENST00000590532:exon2:c.G282A:p.Q94Q;	0.999986404458139	0.992
18	47363082	T	A	18	49836712	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.A5312T:p.Q1771L;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.A5312T:p.Q1771L;ENSG00000167306:ENST00000324581:exon17:c.A2657T:p.Q886L;ENSG00000167306:ENST00000592688:exon7:c.A1022T:p.Q341L;ENSG00000266997:ENST00000590532:exon2:c.A281T:p.Q94L;	0.999939474773405	0.992
18	47363082	T	C	18	49836712	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.A5312G:p.Q1771R;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.A5312G:p.Q1771R;ENSG00000167306:ENST00000324581:exon17:c.A2657G:p.Q886R;ENSG00000167306:ENST00000592688:exon7:c.A1022G:p.Q341R;ENSG00000266997:ENST00000590532:exon2:c.A281G:p.Q94R;	0.999939474773405	0.998
18	47363082	T	G	18	49836712	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.A5312C:p.Q1771P;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.A5312C:p.Q1771P;ENSG00000167306:ENST00000324581:exon17:c.A2657C:p.Q886P;ENSG00000167306:ENST00000592688:exon7:c.A1022C:p.Q341P;ENSG00000266997:ENST00000590532:exon2:c.A281C:p.Q94P;	0.999942285083718	1.0
18	47363083	G	A	18	49836713	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon38:c.C5311T:p.Q1771X;	exonic	ENSG00000167306;ENSG00000266997	stopgain SNV	ENSG00000167306:ENST00000285039:exon38:c.C5311T:p.Q1771X;ENSG00000167306:ENST00000324581:exon17:c.C2656T:p.Q886X;ENSG00000167306:ENST00000592688:exon7:c.C1021T:p.Q341X;ENSG00000266997:ENST00000590532:exon2:c.C280T:p.Q94X;	0.999845734136241	0.99
18	47363083	G	C	18	49836713	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.C5311G:p.Q1771E;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.C5311G:p.Q1771E;ENSG00000167306:ENST00000324581:exon17:c.C2656G:p.Q886E;ENSG00000167306:ENST00000592688:exon7:c.C1021G:p.Q341E;ENSG00000266997:ENST00000590532:exon2:c.C280G:p.Q94E;	0.951555182829981	0.728
18	47363083	G	T	18	49836713	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.C5311A:p.Q1771K;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.C5311A:p.Q1771K;ENSG00000167306:ENST00000324581:exon17:c.C2656A:p.Q886K;ENSG00000167306:ENST00000592688:exon7:c.C1021A:p.Q341K;ENSG00000266997:ENST00000590532:exon2:c.C280A:p.Q94K;	0.935605958932466	0.78
18	47363254	A	C	18	49836884	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.T5140G:p.Y1714D;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.T5140G:p.Y1714D;ENSG00000167306:ENST00000324581:exon17:c.T2485G:p.Y829D;ENSG00000167306:ENST00000592688:exon7:c.T850G:p.Y284D;ENSG00000266997:ENST00000590532:exon2:c.T109G:p.Y37D;	0.341222918990552	0.46
18	47363254	A	G	18	49836884	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.T5140C:p.Y1714H;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.T5140C:p.Y1714H;ENSG00000167306:ENST00000324581:exon17:c.T2485C:p.Y829H;ENSG00000167306:ENST00000592688:exon7:c.T850C:p.Y284H;ENSG00000266997:ENST00000590532:exon2:c.T109C:p.Y37H;	0.357471958908668	0.492
18	47363254	A	T	18	49836884	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.T5140A:p.Y1714N;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.T5140A:p.Y1714N;ENSG00000167306:ENST00000324581:exon17:c.T2485A:p.Y829N;ENSG00000167306:ENST00000592688:exon7:c.T850A:p.Y284N;ENSG00000266997:ENST00000590532:exon2:c.T109A:p.Y37N;	0.317290708895452	0.47
18	47363255	C	A	18	49836885	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.G5139T:p.R1713S;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.G5139T:p.R1713S;ENSG00000167306:ENST00000324581:exon17:c.G2484T:p.R828S;ENSG00000167306:ENST00000592688:exon7:c.G849T:p.R283S;ENSG00000266997:ENST00000590532:exon2:c.G108T:p.R36S;	0.999894760759121	0.948
18	47363255	C	G	18	49836885	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon38:c.G5139C:p.R1713S;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.G5139C:p.R1713S;ENSG00000167306:ENST00000324581:exon17:c.G2484C:p.R828S;ENSG00000167306:ENST00000592688:exon7:c.G849C:p.R283S;ENSG00000266997:ENST00000590532:exon2:c.G108C:p.R36S;	0.999864379192026	0.884
18	47363255	C	T	18	49836885	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon38:c.G5139A:p.R1713R;	exonic	ENSG00000167306;ENSG00000266997	synonymous SNV	ENSG00000167306:ENST00000285039:exon38:c.G5139A:p.R1713R;ENSG00000167306:ENST00000324581:exon17:c.G2484A:p.R828R;ENSG00000167306:ENST00000592688:exon7:c.G849A:p.R283R;ENSG00000266997:ENST00000590532:exon2:c.G108A:p.R36R;	0.997716536017086	0.746
18	47363256	C	A	18	49836886	y	y	splicing	MYO5B(NM_001080467:exon39:c.5139-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5139-1G>T;ENST00000324581:exon18:c.2484-1G>T;ENST00000592779:exon19:c.2492-1G>T;ENST00000592688:exon8:c.849-1G>T);ENSG00000266997(ENST00000590532:exon3:c.108-1G>T)	.	.	0.999971817005805	0.878
18	47363256	C	G	18	49836886	y	y	splicing	MYO5B(NM_001080467:exon39:c.5139-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5139-1G>C;ENST00000324581:exon18:c.2484-1G>C;ENST00000592779:exon19:c.2492-1G>C;ENST00000592688:exon8:c.849-1G>C);ENSG00000266997(ENST00000590532:exon3:c.108-1G>C)	.	.	0.999971817005805	0.878
18	47363256	C	T	18	49836886	y	y	splicing	MYO5B(NM_001080467:exon39:c.5139-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5139-1G>A;ENST00000324581:exon18:c.2484-1G>A;ENST00000592779:exon19:c.2492-1G>A;ENST00000592688:exon8:c.849-1G>A);ENSG00000266997(ENST00000590532:exon3:c.108-1G>A)	.	.	0.999971817005805	0.878
18	47363257	T	A	18	49836887	y	y	splicing	MYO5B(NM_001080467:exon39:c.5139-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5139-2A>T;ENST00000324581:exon18:c.2484-2A>T;ENST00000592779:exon19:c.2492-2A>T;ENST00000592688:exon8:c.849-2A>T);ENSG00000266997(ENST00000590532:exon3:c.108-2A>T)	.	.	0.999914511980801	0.886
18	47363257	T	C	18	49836887	y	y	splicing	MYO5B(NM_001080467:exon39:c.5139-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5139-2A>G;ENST00000324581:exon18:c.2484-2A>G;ENST00000592779:exon19:c.2492-2A>G;ENST00000592688:exon8:c.849-2A>G);ENSG00000266997(ENST00000590532:exon3:c.108-2A>G)	.	.	0.999914511980801	0.884
18	47363257	T	G	18	49836887	y	y	splicing	MYO5B(NM_001080467:exon39:c.5139-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon39:c.5139-2A>C;ENST00000324581:exon18:c.2484-2A>C;ENST00000592779:exon19:c.2492-2A>C;ENST00000592688:exon8:c.849-2A>C);ENSG00000266997(ENST00000590532:exon3:c.108-2A>C)	.	.	0.999914511980801	0.884
18	47363258	T	A	18	49836888	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.38217040880189E-4	0.038
18	47363258	T	C	18	49836888	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0155081865322097	0.244
18	47363258	T	G	18	49836888	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.42687180108533E-4	0.046
18	47363259	A	C	18	49836889	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.50473991871276E-5	0.022
18	47363259	A	G	18	49836889	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.51796460995832E-4	0.014
18	47363259	A	T	18	49836889	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.12444099197387E-4	0.012
18	47363260	G	A	18	49836890	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.09557990446713E-4	0.052
18	47363260	G	C	18	49836890	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0368041667763393	0.236
18	47363260	G	T	18	49836890	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0229891576638782	0.222
18	47363261	C	A	18	49836891	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.00141089529745E-4	0.05
18	47363261	C	G	18	49836891	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.69089934674413E-4	0.138
18	47363261	C	T	18	49836891	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.48226051590911E-5	0.022
18	47363262	C	A	18	49836892	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.12507422206452E-4	0.08
18	47363262	C	G	18	49836892	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.19998177351587E-5	0.052
18	47363262	C	T	18	49836892	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.998255697106389	0.968
18	47363263	A	C	18	49836893	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.998802366645199	0.954
18	47363263	A	G	18	49836893	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.60840047218105E-4	0.094
18	47363263	A	T	18	49836893	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.99913560601984	0.96
18	47363264	T	A	18	49836894	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.69597282619581E-5	0.01
18	47363264	T	C	18	49836894	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.36717491115887E-5	0.008
18	47363264	T	G	18	49836894	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.69597282619581E-5	0.004
18	47363265	A	C	18	49836895	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0604844380917013	0.468
18	47363265	A	G	18	49836895	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00231396511003881	0.062
18	47363265	A	T	18	49836895	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0419138339669075	0.446
18	47363266	G	A	18	49836896	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.0875832724318E-5	0.002
18	47363266	G	C	18	49836896	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.7153058587915E-5	0.096
18	47363266	G	T	18	49836896	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.60041640003926E-5	0.076
18	47363267	G	A	18	49836897	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.35999596180674E-5	0.024
18	47363267	G	C	18	49836897	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.997855825061236	0.97
18	47363267	G	T	18	49836897	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00106989249233554	0.118
18	47363879	T	A	18	49837509	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.37326466584076E-4	0.0
18	47363879	T	C	18	49837509	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.37326466584076E-4	0.002
18	47363879	T	G	18	49837509	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.2937163204074E-4	0.006
18	47363880	C	A	18	49837510	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.62586297388546E-4	0.014
18	47363880	C	G	18	49837510	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.80992168975552E-4	0.004
18	47363880	C	T	18	49837510	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.45648733581547E-4	0.006
18	47363881	C	A	18	49837511	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.48333455697157E-5	0.004
18	47363881	C	G	18	49837511	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.42242100200401E-5	0.008
18	47363881	C	T	18	49837511	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.09612027359758E-4	0.016
18	47363882	C	A	18	49837512	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.918463866668353	0.656
18	47363882	C	G	18	49837512	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.783945585842915	0.546
18	47363882	C	T	18	49837512	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.926757479532227	0.672
18	47363883	T	A	18	49837513	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.129025286671752	0.308
18	47363883	T	C	18	49837513	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.280510592906325	0.41
18	47363883	T	G	18	49837513	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0519213120836177	0.354
18	47363884	T	A	18	49837514	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.943266352132622	0.644
18	47363884	T	C	18	49837514	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0125794159637301	0.098
18	47363884	T	G	18	49837514	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.977477762631024	0.728
18	47363885	A	C	18	49837515	y	y	splicing	MYO5B(NM_001080467:exon38:c.5138+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.5138+2T>G;ENST00000324581:exon17:c.2483+2T>G;ENST00000592779:exon18:c.2491+2T>G;ENST00000592688:exon7:c.848+2T>G);ENSG00000266997(ENST00000590532:exon2:c.107+2T>G)	.	.	0.999988247793601	0.928
18	47363885	A	G	18	49837515	y	y	splicing	MYO5B(NM_001080467:exon38:c.5138+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.5138+2T>C;ENST00000324581:exon17:c.2483+2T>C;ENST00000592779:exon18:c.2491+2T>C;ENST00000592688:exon7:c.848+2T>C);ENSG00000266997(ENST00000590532:exon2:c.107+2T>C)	.	.	0.994669226766359	0.656
18	47363885	A	T	18	49837515	y	y	splicing	MYO5B(NM_001080467:exon38:c.5138+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.5138+2T>A;ENST00000324581:exon17:c.2483+2T>A;ENST00000592779:exon18:c.2491+2T>A;ENST00000592688:exon7:c.848+2T>A);ENSG00000266997(ENST00000590532:exon2:c.107+2T>A)	.	.	0.999988247793601	0.928
18	47363886	C	A	18	49837516	y	y	splicing	MYO5B(NM_001080467:exon38:c.5138+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.5138+1G>T;ENST00000324581:exon17:c.2483+1G>T;ENST00000592779:exon18:c.2491+1G>T;ENST00000592688:exon7:c.848+1G>T);ENSG00000266997(ENST00000590532:exon2:c.107+1G>T)	.	.	0.999986675681007	0.932
18	47363886	C	G	18	49837516	y	y	splicing	MYO5B(NM_001080467:exon38:c.5138+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.5138+1G>C;ENST00000324581:exon17:c.2483+1G>C;ENST00000592779:exon18:c.2491+1G>C;ENST00000592688:exon7:c.848+1G>C);ENSG00000266997(ENST00000590532:exon2:c.107+1G>C)	.	.	0.999986675681007	0.932
18	47363886	C	T	18	49837516	y	y	splicing	MYO5B(NM_001080467:exon38:c.5138+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.5138+1G>A;ENST00000324581:exon17:c.2483+1G>A;ENST00000592779:exon18:c.2491+1G>A;ENST00000592688:exon7:c.848+1G>A);ENSG00000266997(ENST00000590532:exon2:c.107+1G>A)	.	.	0.999986675681007	0.932
18	47363887	C	A	18	49837517	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon37:c.G5138T:p.R1713M;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.G5138T:p.R1713M;ENSG00000167306:ENST00000324581:exon16:c.G2483T:p.R828M;ENSG00000167306:ENST00000592688:exon6:c.G848T:p.R283M;ENSG00000266997:ENST00000590532:exon1:c.G107T:p.R36M;	0.999911924911567	0.992
18	47363887	C	G	18	49837517	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon37:c.G5138C:p.R1713T;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.G5138C:p.R1713T;ENSG00000167306:ENST00000324581:exon16:c.G2483C:p.R828T;ENSG00000167306:ENST00000592688:exon6:c.G848C:p.R283T;ENSG00000266997:ENST00000590532:exon1:c.G107C:p.R36T;	0.999964430956096	0.98
18	47363887	C	T	18	49837517	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon37:c.G5138A:p.R1713K;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.G5138A:p.R1713K;ENSG00000167306:ENST00000324581:exon16:c.G2483A:p.R828K;ENSG00000167306:ENST00000592688:exon6:c.G848A:p.R283K;ENSG00000266997:ENST00000590532:exon1:c.G107A:p.R36K;	0.999936536735521	0.986
18	47363888	T	A	18	49837518	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon37:c.A5137T:p.R1713W;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.A5137T:p.R1713W;ENSG00000167306:ENST00000324581:exon16:c.A2482T:p.R828W;ENSG00000167306:ENST00000592688:exon6:c.A847T:p.R283W;ENSG00000266997:ENST00000590532:exon1:c.A106T:p.R36W;	0.648988719100334	0.478
18	47363888	T	C	18	49837518	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon37:c.A5137G:p.R1713G;	exonic	ENSG00000167306;ENSG00000266997	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.A5137G:p.R1713G;ENSG00000167306:ENST00000324581:exon16:c.A2482G:p.R828G;ENSG00000167306:ENST00000592688:exon6:c.A847G:p.R283G;ENSG00000266997:ENST00000590532:exon1:c.A106G:p.R36G;	0.770609601532696	0.632
18	47363888	T	G	18	49837518	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon37:c.A5137C:p.R1713R;	exonic	ENSG00000167306;ENSG00000266997	synonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.A5137C:p.R1713R;ENSG00000167306:ENST00000324581:exon16:c.A2482C:p.R828R;ENSG00000167306:ENST00000592688:exon6:c.A847C:p.R283R;ENSG00000266997:ENST00000590532:exon1:c.A106C:p.R36R;	0.341107875797349	0.524
18	47363889	G	A	18	49837519	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon37:c.C5136T:p.L1712L;	exonic	ENSG00000167306;ENSG00000266997	synonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.C5136T:p.L1712L;ENSG00000167306:ENST00000324581:exon16:c.C2481T:p.L827L;ENSG00000167306:ENST00000592688:exon6:c.C846T:p.L282L;ENSG00000266997:ENST00000590532:exon1:c.C105T:p.L35L;	0.365574083625328	0.358
18	47363889	G	C	18	49837519	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon37:c.C5136G:p.L1712L;	exonic	ENSG00000167306;ENSG00000266997	synonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.C5136G:p.L1712L;ENSG00000167306:ENST00000324581:exon16:c.C2481G:p.L827L;ENSG00000167306:ENST00000592688:exon6:c.C846G:p.L282L;ENSG00000266997:ENST00000590532:exon1:c.C105G:p.L35L;	0.0315393734651413	0.122
18	47363889	G	T	18	49837519	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon37:c.C5136A:p.L1712L;	exonic	ENSG00000167306;ENSG00000266997	synonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.C5136A:p.L1712L;ENSG00000167306:ENST00000324581:exon16:c.C2481A:p.L827L;ENSG00000167306:ENST00000592688:exon6:c.C846A:p.L282L;ENSG00000266997:ENST00000590532:exon1:c.C105A:p.L35L;	0.0106508654355477	0.158
18	47364171	A	C	18	49837801	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon37:c.T4854G:p.V1618V;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.T4854G:p.V1618V;ENSG00000167306:ENST00000324581:exon16:c.T2199G:p.V733V;ENSG00000167306:ENST00000592688:exon6:c.T564G:p.V188V;	1.18796151904822E-4	0.0
18	47364171	A	G	18	49837801	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon37:c.T4854C:p.V1618V;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.T4854C:p.V1618V;ENSG00000167306:ENST00000324581:exon16:c.T2199C:p.V733V;ENSG00000167306:ENST00000592688:exon6:c.T564C:p.V188V;	1.82410967224599E-4	0.01
18	47364171	A	T	18	49837801	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon37:c.T4854A:p.V1618V;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.T4854A:p.V1618V;ENSG00000167306:ENST00000324581:exon16:c.T2199A:p.V733V;ENSG00000167306:ENST00000592688:exon6:c.T564A:p.V188V;	1.7195495784142E-4	0.07
18	47364172	A	C	18	49837802	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon37:c.T4853G:p.V1618G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.T4853G:p.V1618G;ENSG00000167306:ENST00000324581:exon16:c.T2198G:p.V733G;ENSG00000167306:ENST00000592688:exon6:c.T563G:p.V188G;	0.647371307242122	0.564
18	47364172	A	G	18	49837802	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon37:c.T4853C:p.V1618A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.T4853C:p.V1618A;ENSG00000167306:ENST00000324581:exon16:c.T2198C:p.V733A;ENSG00000167306:ENST00000592688:exon6:c.T563C:p.V188A;	0.362748026804633	0.4
18	47364172	A	T	18	49837802	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon37:c.T4853A:p.V1618D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon37:c.T4853A:p.V1618D;ENSG00000167306:ENST00000324581:exon16:c.T2198A:p.V733D;ENSG00000167306:ENST00000592688:exon6:c.T563A:p.V188D;	0.564339561630094	0.626
18	47364173	C	A	18	49837803	y	y	splicing	MYO5B(NM_001080467:exon38:c.4853-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.4853-1G>T;ENST00000324581:exon17:c.2198-1G>T;ENST00000592779:exon18:c.2206-1G>T;ENST00000592688:exon7:c.563-1G>T)	.	.	0.999974090184857	0.938
18	47364173	C	G	18	49837803	y	y	splicing	MYO5B(NM_001080467:exon38:c.4853-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.4853-1G>C;ENST00000324581:exon17:c.2198-1G>C;ENST00000592779:exon18:c.2206-1G>C;ENST00000592688:exon7:c.563-1G>C)	.	.	0.999974090184857	0.932
18	47364173	C	T	18	49837803	y	y	splicing	MYO5B(NM_001080467:exon38:c.4853-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.4853-1G>A;ENST00000324581:exon17:c.2198-1G>A;ENST00000592779:exon18:c.2206-1G>A;ENST00000592688:exon7:c.563-1G>A)	.	.	0.999979855567083	0.936
18	47364174	T	A	18	49837804	y	y	splicing	MYO5B(NM_001080467:exon38:c.4853-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.4853-2A>T;ENST00000324581:exon17:c.2198-2A>T;ENST00000592779:exon18:c.2206-2A>T;ENST00000592688:exon7:c.563-2A>T)	.	.	0.99994568797423	0.926
18	47364174	T	C	18	49837804	y	y	splicing	MYO5B(NM_001080467:exon38:c.4853-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.4853-2A>G;ENST00000324581:exon17:c.2198-2A>G;ENST00000592779:exon18:c.2206-2A>G;ENST00000592688:exon7:c.563-2A>G)	.	.	0.99994568797423	0.93
18	47364174	T	G	18	49837804	y	y	splicing	MYO5B(NM_001080467:exon38:c.4853-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon38:c.4853-2A>C;ENST00000324581:exon17:c.2198-2A>C;ENST00000592779:exon18:c.2206-2A>C;ENST00000592688:exon7:c.563-2A>C)	.	.	0.99994568797423	0.93
18	47364175	G	A	18	49837805	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0106848491137559	0.154
18	47364175	G	C	18	49837805	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999761518284568	0.868
18	47364175	G	T	18	49837805	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.950922518472286	0.456
18	47364176	A	C	18	49837806	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.45041486256729E-5	0.0
18	47364176	A	G	18	49837806	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.33668212364057E-5	0.002
18	47364176	A	T	18	49837806	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.93959241569105E-5	0.008
18	47364177	A	C	18	49837807	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.522990597064358	0.33
18	47364177	A	G	18	49837807	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.63760854743468E-4	0.06
18	47364177	A	T	18	49837807	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.547111794382179	0.346
18	47364178	A	C	18	49837808	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999099670097721	0.976
18	47364178	A	G	18	49837808	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.3776741003751E-4	0.04
18	47364178	A	T	18	49837808	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.134367090235735	0.338
18	47364179	T	A	18	49837809	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.43099908483724E-5	0.0
18	47364179	T	C	18	49837809	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.82145570611038E-5	0.056
18	47364179	T	G	18	49837809	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.61787406977618E-5	0.0
18	47364180	A	C	18	49837810	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.17385573289795E-5	0.07
18	47364180	A	G	18	49837810	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.73095369622115E-5	0.002
18	47364180	A	T	18	49837810	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.82884684389813E-4	0.052
18	47364181	A	C	18	49837811	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00176766353168483	0.096
18	47364181	A	G	18	49837811	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.36837049355232E-4	0.004
18	47364181	A	T	18	49837811	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00721961285250004	0.084
18	47364182	A	C	18	49837812	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0607864210570055	0.35
18	47364182	A	G	18	49837812	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.96400382238022E-4	0.008
18	47364182	A	T	18	49837812	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0131461045912266	0.306
18	47364183	A	C	18	49837813	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.110670054520974	0.43
18	47364183	A	G	18	49837813	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00193199320162481	0.14
18	47364183	A	T	18	49837813	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.466724018717573	0.446
18	47364184	G	A	18	49837814	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.87627234757711E-5	0.0
18	47364184	G	C	18	49837814	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.55240308167617E-4	0.046
18	47364184	G	T	18	49837814	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.52000588090557E-4	0.092
18	47365506	C	A	18	49839136	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.12799340901614E-4	0.038
18	47365506	C	G	18	49839136	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.12799340901614E-4	0.064
18	47365506	C	T	18	49839136	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00205151952860217	0.01
18	47365507	A	C	18	49839137	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00619148531435898	0.04
18	47365507	A	G	18	49839137	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00619148531435898	0.038
18	47365507	A	T	18	49839137	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00619148531435898	0.032
18	47365508	G	A	18	49839138	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.26233155966305E-5	0.0
18	47365508	G	C	18	49839138	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.3148591687411E-4	0.038
18	47365508	G	T	18	49839138	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.5211843817258E-4	0.018
18	47365509	C	A	18	49839139	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.994206863550407	0.902
18	47365509	C	G	18	49839139	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.963783559262815	0.752
18	47365509	C	T	18	49839139	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.99208305259306	0.866
18	47365510	T	A	18	49839140	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.930583489095883	0.58
18	47365510	T	C	18	49839140	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.924566977235226	0.572
18	47365510	T	G	18	49839140	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.788422257444873	0.556
18	47365511	T	A	18	49839141	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.974525963002617	0.706
18	47365511	T	C	18	49839141	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00979517795562236	0.134
18	47365511	T	G	18	49839141	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.905480004158685	0.634
18	47365512	A	C	18	49839142	y	y	splicing	MYO5B(NM_001080467:exon37:c.4852+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon37:c.4852+2T>G;ENST00000324581:exon16:c.2197+2T>G;ENST00000592779:exon17:c.2205+2T>G;ENST00000592688:exon6:c.562+2T>G)	.	.	0.999989917668626	0.928
18	47365512	A	G	18	49839142	y	y	splicing	MYO5B(NM_001080467:exon37:c.4852+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon37:c.4852+2T>C;ENST00000324581:exon16:c.2197+2T>C;ENST00000592779:exon17:c.2205+2T>C;ENST00000592688:exon6:c.562+2T>C)	.	.	0.993179459523591	0.616
18	47365512	A	T	18	49839142	y	y	splicing	MYO5B(NM_001080467:exon37:c.4852+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon37:c.4852+2T>A;ENST00000324581:exon16:c.2197+2T>A;ENST00000592779:exon17:c.2205+2T>A;ENST00000592688:exon6:c.562+2T>A)	.	.	0.999989917668626	0.928
18	47365513	C	A	18	49839143	y	y	splicing	MYO5B(NM_001080467:exon37:c.4852+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon37:c.4852+1G>T;ENST00000324581:exon16:c.2197+1G>T;ENST00000592779:exon17:c.2205+1G>T;ENST00000592688:exon6:c.562+1G>T)	.	.	0.999981760802075	0.938
18	47365513	C	G	18	49839143	y	y	splicing	MYO5B(NM_001080467:exon37:c.4852+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon37:c.4852+1G>C;ENST00000324581:exon16:c.2197+1G>C;ENST00000592779:exon17:c.2205+1G>C;ENST00000592688:exon6:c.562+1G>C)	.	.	0.999981760802075	0.938
18	47365513	C	T	18	49839143	y	y	splicing	MYO5B(NM_001080467:exon37:c.4852+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon37:c.4852+1G>A;ENST00000324581:exon16:c.2197+1G>A;ENST00000592779:exon17:c.2205+1G>A;ENST00000592688:exon6:c.562+1G>A)	.	.	0.999981760802075	0.938
18	47365514	C	A	18	49839144	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4852T:p.V1618F;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4852T:p.V1618F;ENSG00000167306:ENST00000324581:exon15:c.G2197T:p.V733F;ENSG00000167306:ENST00000592688:exon5:c.G562T:p.V188F;	0.999951200231396	0.998
18	47365514	C	G	18	49839144	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4852C:p.V1618L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4852C:p.V1618L;ENSG00000167306:ENST00000324581:exon15:c.G2197C:p.V733L;ENSG00000167306:ENST00000592688:exon5:c.G562C:p.V188L;	0.999986760011707	0.968
18	47365514	C	T	18	49839144	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4852A:p.V1618I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4852A:p.V1618I;ENSG00000167306:ENST00000324581:exon15:c.G2197A:p.V733I;ENSG00000167306:ENST00000592688:exon5:c.G562A:p.V188I;	0.99994486140622	0.986
18	47365515	T	A	18	49839145	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon36:c.A4851T:p.I1617I;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.A4851T:p.I1617I;ENSG00000167306:ENST00000324581:exon15:c.A2196T:p.I732I;ENSG00000167306:ENST00000592688:exon5:c.A561T:p.I187I;	0.247863026784196	0.48
18	47365515	T	C	18	49839145	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.A4851G:p.I1617M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.A4851G:p.I1617M;ENSG00000167306:ENST00000324581:exon15:c.A2196G:p.I732M;ENSG00000167306:ENST00000592688:exon5:c.A561G:p.I187M;	0.455046898025752	0.562
18	47365515	T	G	18	49839145	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon36:c.A4851C:p.I1617I;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.A4851C:p.I1617I;ENSG00000167306:ENST00000324581:exon15:c.A2196C:p.I732I;ENSG00000167306:ENST00000592688:exon5:c.A561C:p.I187I;	0.180421184583943	0.456
18	47365516	A	C	18	49839146	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.T4850G:p.I1617R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.T4850G:p.I1617R;ENSG00000167306:ENST00000324581:exon15:c.T2195G:p.I732R;ENSG00000167306:ENST00000592688:exon5:c.T560G:p.I187R;	0.484382499749326	0.752
18	47365516	A	G	18	49839146	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.T4850C:p.I1617T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.T4850C:p.I1617T;ENSG00000167306:ENST00000324581:exon15:c.T2195C:p.I732T;ENSG00000167306:ENST00000592688:exon5:c.T560C:p.I187T;	0.303473901076575	0.634
18	47365516	A	T	18	49839146	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.T4850A:p.I1617K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.T4850A:p.I1617K;ENSG00000167306:ENST00000324581:exon15:c.T2195A:p.I732K;ENSG00000167306:ENST00000592688:exon5:c.T560A:p.I187K;	0.311222123751311	0.722
18	47365663	C	A	18	49839293	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4703T:p.G1568V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4703T:p.G1568V;ENSG00000167306:ENST00000324581:exon15:c.G2048T:p.G683V;ENSG00000167306:ENST00000592688:exon5:c.G413T:p.G138V;	0.97428972010476	0.728
18	47365663	C	G	18	49839293	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4703C:p.G1568A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4703C:p.G1568A;ENSG00000167306:ENST00000324581:exon15:c.G2048C:p.G683A;ENSG00000167306:ENST00000592688:exon5:c.G413C:p.G138A;	0.00206519830414466	0.054
18	47365663	C	T	18	49839293	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4703A:p.G1568D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4703A:p.G1568D;ENSG00000167306:ENST00000324581:exon15:c.G2048A:p.G683D;ENSG00000167306:ENST00000592688:exon5:c.G413A:p.G138D;	0.981482306273382	0.86
18	47365664	C	A	18	49839294	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4702T:p.G1568C;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4702T:p.G1568C;ENSG00000167306:ENST00000324581:exon15:c.G2047T:p.G683C;ENSG00000167306:ENST00000592688:exon5:c.G412T:p.G138C;	0.999854996396021	0.988
18	47365664	C	G	18	49839294	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4702C:p.G1568R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4702C:p.G1568R;ENSG00000167306:ENST00000324581:exon15:c.G2047C:p.G683R;ENSG00000167306:ENST00000592688:exon5:c.G412C:p.G138R;	0.999355553584525	0.908
18	47365664	C	T	18	49839294	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon36:c.G4702A:p.G1568S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon36:c.G4702A:p.G1568S;ENSG00000167306:ENST00000324581:exon15:c.G2047A:p.G683S;ENSG00000167306:ENST00000592688:exon5:c.G412A:p.G138S;	0.998836011899532	0.828
18	47365665	C	A	18	49839295	y	n	splicing	MYO5B(NM_001080467:exon37:c.4702-1G>T)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999981760802075	0.948
18	47365665	C	G	18	49839295	y	n	splicing	MYO5B(NM_001080467:exon37:c.4702-1G>C)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999981760802075	0.948
18	47365665	C	T	18	49839295	y	n	splicing	MYO5B(NM_001080467:exon37:c.4702-1G>A)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999981760802075	0.948
18	47365666	T	A	18	49839296	y	n	splicing	MYO5B(NM_001080467:exon37:c.4702-2A>T)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999989917668626	0.936
18	47365666	T	C	18	49839296	y	n	splicing	MYO5B(NM_001080467:exon37:c.4702-2A>G)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999989917668626	0.936
18	47365666	T	G	18	49839296	y	n	splicing	MYO5B(NM_001080467:exon37:c.4702-2A>C)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999989917668626	0.936
18	47365667	G	A	18	49839297	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.275602548048346	0.358
18	47365667	G	C	18	49839297	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999937522043158	0.96
18	47365667	G	T	18	49839297	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.996394531594604	0.802
18	47365668	C	A	18	49839298	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	2.19447290506815E-4	0.002
18	47365668	C	G	18	49839298	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	1.10352819185937E-4	0.004
18	47365668	C	T	18	49839298	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	2.19447290506815E-4	0.008
18	47365669	A	C	18	49839299	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00120757627022625	0.096
18	47365669	A	G	18	49839299	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	4.22506261407348E-5	0.004
18	47365669	A	T	18	49839299	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.996694945095639	0.832
18	47365670	G	A	18	49839300	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	4.52394387158714E-4	0.038
18	47365670	G	C	18	49839300	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.0403834189301664	0.334
18	47365670	G	T	18	49839300	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00968190067447544	0.346
18	47365671	A	C	18	49839301	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00233586862390043	0.126
18	47365671	A	G	18	49839301	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	6.00865055553433E-5	0.054
18	47365671	A	T	18	49839301	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	5.96001632395188E-4	0.086
18	47365672	G	A	18	49839302	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	1.72320035227997E-5	0.0
18	47365672	G	C	18	49839302	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00137225297106303	0.036
18	47365672	G	T	18	49839302	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00360996251935787	0.034
18	47365673	G	A	18	49839303	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	4.01020214303416E-5	0.004
18	47365673	G	C	18	49839303	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00233990700858092	0.138
18	47365673	G	T	18	49839303	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00144322756852175	0.106
18	47365674	G	A	18	49839304	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	2.34033110284377E-5	0.004
18	47365674	G	C	18	49839304	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00340348260732867	0.066
18	47365674	G	T	18	49839304	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.002746999649486	0.052
18	47365675	A	C	18	49839305	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.0266145863948999	0.412
18	47365675	A	G	18	49839305	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00489807366011008	0.224
18	47365675	A	T	18	49839305	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.184112760119618	0.474
18	47365676	G	A	18	49839306	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	7.0213656454586E-5	0.006
18	47365676	G	C	18	49839306	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	5.58866426777129E-4	0.108
18	47365676	G	T	18	49839306	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	5.90928152548039E-4	0.058
18	47367727	C	A	18	49841357	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.09579474250486E-6	0.0
18	47367727	C	G	18	49841357	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.09579474250486E-6	0.0
18	47367727	C	T	18	49841357	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.09579474250486E-6	0.0
18	47367728	C	A	18	49841358	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.2375518004144E-5	0.018
18	47367728	C	G	18	49841358	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.58184945634945E-5	0.002
18	47367728	C	T	18	49841358	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.58184945634945E-5	0.0
18	47367729	A	C	18	49841359	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00356281516039641	0.114
18	47367729	A	G	18	49841359	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00911658388046719	0.14
18	47367729	A	T	18	49841359	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0456422993809226	0.182
18	47367730	C	A	18	49841360	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999028114860376	0.876
18	47367730	C	G	18	49841360	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999301066051194	0.952
18	47367730	C	T	18	49841360	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.99614793757288	0.908
18	47367731	T	A	18	49841361	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.982171869939341	0.624
18	47367731	T	C	18	49841361	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.880169129464569	0.598
18	47367731	T	G	18	49841361	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.704738451866639	0.558
18	47367732	C	A	18	49841362	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0105430012817337	0.178
18	47367732	C	G	18	49841362	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0083175787210324	0.172
18	47367732	C	T	18	49841362	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.34178563451979E-5	0.0
18	47367733	A	C	18	49841363	y	y	splicing	MYO5B(NM_001080467:exon36:c.4701+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4701+2T>G;ENST00000324581:exon15:c.2046+2T>G;ENST00000592779:exon16:c.2054+2T>G;ENST00000592688:exon5:c.411+2T>G)	.	.	0.999988247793601	0.926
18	47367733	A	G	18	49841363	y	y	splicing	MYO5B(NM_001080467:exon36:c.4701+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4701+2T>C;ENST00000324581:exon15:c.2046+2T>C;ENST00000592779:exon16:c.2054+2T>C;ENST00000592688:exon5:c.411+2T>C)	.	.	0.999929727175276	0.852
18	47367733	A	T	18	49841363	y	y	splicing	MYO5B(NM_001080467:exon36:c.4701+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4701+2T>A;ENST00000324581:exon15:c.2046+2T>A;ENST00000592779:exon16:c.2054+2T>A;ENST00000592688:exon5:c.411+2T>A)	.	.	0.999988247793601	0.926
18	47367734	C	A	18	49841364	y	y	splicing	MYO5B(NM_001080467:exon36:c.4701+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4701+1G>T;ENST00000324581:exon15:c.2046+1G>T;ENST00000592779:exon16:c.2054+1G>T;ENST00000592688:exon5:c.411+1G>T)	.	.	0.999985532734767	0.936
18	47367734	C	G	18	49841364	y	y	splicing	MYO5B(NM_001080467:exon36:c.4701+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4701+1G>C;ENST00000324581:exon15:c.2046+1G>C;ENST00000592779:exon16:c.2054+1G>C;ENST00000592688:exon5:c.411+1G>C)	.	.	0.999985532734767	0.936
18	47367734	C	T	18	49841364	y	y	splicing	MYO5B(NM_001080467:exon36:c.4701+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4701+1G>A;ENST00000324581:exon15:c.2046+1G>A;ENST00000592779:exon16:c.2054+1G>A;ENST00000592688:exon5:c.411+1G>A)	.	.	0.999985532734767	0.936
18	47367735	C	A	18	49841365	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.G4701T:p.E1567D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.G4701T:p.E1567D;ENSG00000167306:ENST00000324581:exon14:c.G2046T:p.E682D;ENSG00000167306:ENST00000592688:exon4:c.G411T:p.E137D;	0.999534471981955	0.968
18	47367735	C	G	18	49841365	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.G4701C:p.E1567D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.G4701C:p.E1567D;ENSG00000167306:ENST00000324581:exon14:c.G2046C:p.E682D;ENSG00000167306:ENST00000592688:exon4:c.G411C:p.E137D;	0.999817168336538	0.948
18	47367735	C	T	18	49841365	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon35:c.G4701A:p.E1567E;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.G4701A:p.E1567E;ENSG00000167306:ENST00000324581:exon14:c.G2046A:p.E682E;ENSG00000167306:ENST00000592688:exon4:c.G411A:p.E137E;	0.967553214748281	0.584
18	47367736	T	A	18	49841366	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.A4700T:p.E1567V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.A4700T:p.E1567V;ENSG00000167306:ENST00000324581:exon14:c.A2045T:p.E682V;ENSG00000167306:ENST00000592688:exon4:c.A410T:p.E137V;	0.998947890205757	0.912
18	47367736	T	C	18	49841366	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.A4700G:p.E1567G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.A4700G:p.E1567G;ENSG00000167306:ENST00000324581:exon14:c.A2045G:p.E682G;ENSG00000167306:ENST00000592688:exon4:c.A410G:p.E137G;	0.999382249836366	0.99
18	47367736	T	G	18	49841366	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.A4700C:p.E1567A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.A4700C:p.E1567A;ENSG00000167306:ENST00000324581:exon14:c.A2045C:p.E682A;ENSG00000167306:ENST00000592688:exon4:c.A410C:p.E137A;	0.991237937736274	0.906
18	47367737	C	A	18	49841367	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon35:c.G4699T:p.E1567X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon35:c.G4699T:p.E1567X;ENSG00000167306:ENST00000324581:exon14:c.G2044T:p.E682X;ENSG00000167306:ENST00000592688:exon4:c.G409T:p.E137X;	0.976478483086431	0.864
18	47367737	C	G	18	49841367	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.G4699C:p.E1567Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.G4699C:p.E1567Q;ENSG00000167306:ENST00000324581:exon14:c.G2044C:p.E682Q;ENSG00000167306:ENST00000592688:exon4:c.G409C:p.E137Q;	0.934018675173057	0.75
18	47367737	C	T	18	49841367	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.G4699A:p.E1567K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.G4699A:p.E1567K;ENSG00000167306:ENST00000324581:exon14:c.G2044A:p.E682K;ENSG00000167306:ENST00000592688:exon4:c.G409A:p.E137K;	0.930393484225735	0.822
18	47367823	T	A	18	49841453	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.A4613T:p.K1538M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.A4613T:p.K1538M;ENSG00000167306:ENST00000324581:exon14:c.A1958T:p.K653M;ENSG00000167306:ENST00000592688:exon4:c.A323T:p.K108M;	0.68956467722013	0.842
18	47367823	T	C	18	49841453	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.A4613G:p.K1538R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.A4613G:p.K1538R;ENSG00000167306:ENST00000324581:exon14:c.A1958G:p.K653R;ENSG00000167306:ENST00000592688:exon4:c.A323G:p.K108R;	0.831289841757102	0.784
18	47367823	T	G	18	49841453	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.A4613C:p.K1538T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.A4613C:p.K1538T;ENSG00000167306:ENST00000324581:exon14:c.A1958C:p.K653T;ENSG00000167306:ENST00000592688:exon4:c.A323C:p.K108T;	0.83837415682593	0.884
18	47367824	T	A	18	49841454	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon35:c.A4612T:p.K1538X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon35:c.A4612T:p.K1538X;ENSG00000167306:ENST00000324581:exon14:c.A1957T:p.K653X;ENSG00000167306:ENST00000592688:exon4:c.A322T:p.K108X;	0.382597664780745	0.67
18	47367824	T	C	18	49841454	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.A4612G:p.K1538E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.A4612G:p.K1538E;ENSG00000167306:ENST00000324581:exon14:c.A1957G:p.K653E;ENSG00000167306:ENST00000592688:exon4:c.A322G:p.K108E;	0.513737540893231	0.722
18	47367824	T	G	18	49841454	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon35:c.A4612C:p.K1538Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon35:c.A4612C:p.K1538Q;ENSG00000167306:ENST00000324581:exon14:c.A1957C:p.K653Q;ENSG00000167306:ENST00000592688:exon4:c.A322C:p.K108Q;	0.250378607261594	0.66
18	47367825	C	A	18	49841455	y	y	splicing	MYO5B(NM_001080467:exon36:c.4612-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4612-1G>T;ENST00000324581:exon15:c.1957-1G>T;ENST00000592779:exon16:c.1965-1G>T;ENST00000592688:exon5:c.322-1G>T)	.	.	0.999985532734767	0.936
18	47367825	C	G	18	49841455	y	y	splicing	MYO5B(NM_001080467:exon36:c.4612-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4612-1G>C;ENST00000324581:exon15:c.1957-1G>C;ENST00000592779:exon16:c.1965-1G>C;ENST00000592688:exon5:c.322-1G>C)	.	.	0.999985532734767	0.936
18	47367825	C	T	18	49841455	y	y	splicing	MYO5B(NM_001080467:exon36:c.4612-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4612-1G>A;ENST00000324581:exon15:c.1957-1G>A;ENST00000592779:exon16:c.1965-1G>A;ENST00000592688:exon5:c.322-1G>A)	.	.	0.999985532734767	0.936
18	47367826	T	A	18	49841456	y	y	splicing	MYO5B(NM_001080467:exon36:c.4612-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4612-2A>T;ENST00000324581:exon15:c.1957-2A>T;ENST00000592779:exon16:c.1965-2A>T;ENST00000592688:exon5:c.322-2A>T)	.	.	0.999988247793601	0.928
18	47367826	T	C	18	49841456	y	y	splicing	MYO5B(NM_001080467:exon36:c.4612-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4612-2A>G;ENST00000324581:exon15:c.1957-2A>G;ENST00000592779:exon16:c.1965-2A>G;ENST00000592688:exon5:c.322-2A>G)	.	.	0.999988247793601	0.928
18	47367826	T	G	18	49841456	y	y	splicing	MYO5B(NM_001080467:exon36:c.4612-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon36:c.4612-2A>C;ENST00000324581:exon15:c.1957-2A>C;ENST00000592779:exon16:c.1965-2A>C;ENST00000592688:exon5:c.322-2A>C)	.	.	0.999988247793601	0.928
18	47367827	G	A	18	49841457	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0406222209065055	0.266
18	47367827	G	C	18	49841457	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999751883575355	0.958
18	47367827	G	T	18	49841457	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.986667199353778	0.644
18	47367828	T	A	18	49841458	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.20332737006027E-4	0.0
18	47367828	T	C	18	49841458	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.34133512961494E-4	0.0
18	47367828	T	G	18	49841458	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.05365314184821E-5	0.016
18	47367829	G	A	18	49841459	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.26525642872804E-5	0.0
18	47367829	G	C	18	49841459	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.71868114817401E-4	0.194
18	47367829	G	T	18	49841459	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.04583359120468E-4	0.02
18	47367830	A	C	18	49841460	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00661363285140471	0.1
18	47367830	A	G	18	49841460	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.1274701814233E-5	0.0
18	47367830	A	T	18	49841460	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00219337338107549	0.078
18	47367831	A	C	18	49841461	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.8571268110723E-4	0.072
18	47367831	A	G	18	49841461	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.3741057977465E-5	0.0
18	47367831	A	T	18	49841461	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.45463151539043E-4	0.048
18	47367832	A	C	18	49841462	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.9795099710469E-5	0.012
18	47367832	A	G	18	49841462	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.73059031130768E-5	0.0
18	47367832	A	T	18	49841462	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.51362763476655E-4	0.01
18	47367833	A	C	18	49841463	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0055696398316386	0.21
18	47367833	A	G	18	49841463	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00245218799246076	0.03
18	47367833	A	T	18	49841463	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00620167722521038	0.242
18	47367834	G	A	18	49841464	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.28956839590176E-5	0.004
18	47367834	G	C	18	49841464	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.8186535145182E-5	0.012
18	47367834	G	T	18	49841464	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.20719331585458E-4	0.012
18	47367835	A	C	18	49841465	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.42867751063684E-4	0.036
18	47367835	A	G	18	49841465	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.91309867944395E-5	0.008
18	47367835	A	T	18	49841465	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.49569923615175E-4	0.132
18	47367836	A	C	18	49841466	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.49045081397207E-5	0.02
18	47367836	A	G	18	49841466	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.79387132589952E-5	0.0
18	47367836	A	T	18	49841466	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.18613989137866E-4	0.02
18	47369603	C	A	18	49843233	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.21318734895995E-5	0.002
18	47369603	C	G	18	49843233	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.21318734895995E-5	0.0
18	47369603	C	T	18	49843233	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.03952673098128E-5	0.002
18	47369604	T	A	18	49843234	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.39998324283716E-4	0.0
18	47369604	T	C	18	49843234	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.98629200328494E-5	0.0
18	47369604	T	G	18	49843234	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.58992702814738E-5	0.0
18	47369605	G	A	18	49843235	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.83277990514657E-5	0.002
18	47369605	G	C	18	49843235	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.70851373203597E-5	0.03
18	47369605	G	T	18	49843235	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.40821021441904E-5	0.014
18	47369606	C	A	18	49843236	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999978218360872	0.976
18	47369606	C	G	18	49843236	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999790647755382	0.93
18	47369606	C	T	18	49843236	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999964125631393	0.974
18	47369607	T	A	18	49843237	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.878912672713744	0.6
18	47369607	T	C	18	49843237	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.816345006274188	0.596
18	47369607	T	G	18	49843237	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.191794120495406	0.308
18	47369608	T	A	18	49843238	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.990895627637849	0.64
18	47369608	T	C	18	49843238	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0016992629713947	0.076
18	47369608	T	G	18	49843238	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.990895627637849	0.636
18	47369609	A	C	18	49843239	y	y	splicing	MYO5B(NM_001080467:exon35:c.4611+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4611+2T>G;ENST00000324581:exon14:c.1956+2T>G;ENST00000592779:exon15:c.1964+2T>G;ENST00000592688:exon4:c.321+2T>G)	.	.	0.999989917668626	0.924
18	47369609	A	G	18	49843239	y	y	splicing	MYO5B(NM_001080467:exon35:c.4611+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4611+2T>C;ENST00000324581:exon14:c.1956+2T>C;ENST00000592779:exon15:c.1964+2T>C;ENST00000592688:exon4:c.321+2T>C)	.	.	0.986528855787127	0.616
18	47369609	A	T	18	49843239	y	y	splicing	MYO5B(NM_001080467:exon35:c.4611+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4611+2T>A;ENST00000324581:exon14:c.1956+2T>A;ENST00000592779:exon15:c.1964+2T>A;ENST00000592688:exon4:c.321+2T>A)	.	.	0.999989917668626	0.924
18	47369610	C	A	18	49843240	y	y	splicing	MYO5B(NM_001080467:exon35:c.4611+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4611+1G>T;ENST00000324581:exon14:c.1956+1G>T;ENST00000592779:exon15:c.1964+1G>T;ENST00000592688:exon4:c.321+1G>T)	.	.	0.999986675681007	0.934
18	47369610	C	G	18	49843240	y	y	splicing	MYO5B(NM_001080467:exon35:c.4611+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4611+1G>C;ENST00000324581:exon14:c.1956+1G>C;ENST00000592779:exon15:c.1964+1G>C;ENST00000592688:exon4:c.321+1G>C)	.	.	0.999986675681007	0.934
18	47369610	C	T	18	49843240	y	y	splicing	MYO5B(NM_001080467:exon35:c.4611+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4611+1G>A;ENST00000324581:exon14:c.1956+1G>A;ENST00000592779:exon15:c.1964+1G>A;ENST00000592688:exon4:c.321+1G>A)	.	.	0.999986675681007	0.936
18	47369611	T	A	18	49843241	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4611T:p.K1537N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4611T:p.K1537N;ENSG00000167306:ENST00000324581:exon13:c.A1956T:p.K652N;ENSG00000167306:ENST00000592688:exon3:c.A321T:p.K107N;	0.0143127714906942	0.18
18	47369611	T	C	18	49843241	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon34:c.A4611G:p.K1537K;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4611G:p.K1537K;ENSG00000167306:ENST00000324581:exon13:c.A1956G:p.K652K;ENSG00000167306:ENST00000592688:exon3:c.A321G:p.K107K;	1.18031067617043E-4	0.016
18	47369611	T	G	18	49843241	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4611C:p.K1537N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4611C:p.K1537N;ENSG00000167306:ENST00000324581:exon13:c.A1956C:p.K652N;ENSG00000167306:ENST00000592688:exon3:c.A321C:p.K107N;	0.00488495813482151	0.174
18	47369612	T	A	18	49843242	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4610T:p.K1537I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4610T:p.K1537I;ENSG00000167306:ENST00000324581:exon13:c.A1955T:p.K652I;ENSG00000167306:ENST00000592688:exon3:c.A320T:p.K107I;	0.999770067083795	0.982
18	47369612	T	C	18	49843242	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4610G:p.K1537R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4610G:p.K1537R;ENSG00000167306:ENST00000324581:exon13:c.A1955G:p.K652R;ENSG00000167306:ENST00000592688:exon3:c.A320G:p.K107R;	0.999289230962756	0.964
18	47369612	T	G	18	49843242	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4610C:p.K1537T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4610C:p.K1537T;ENSG00000167306:ENST00000324581:exon13:c.A1955C:p.K652T;ENSG00000167306:ENST00000592688:exon3:c.A320C:p.K107T;	0.999114820102744	0.962
18	47369613	T	A	18	49843243	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon34:c.A4609T:p.K1537X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon34:c.A4609T:p.K1537X;ENSG00000167306:ENST00000324581:exon13:c.A1954T:p.K652X;ENSG00000167306:ENST00000592688:exon3:c.A319T:p.K107X;	0.963465628292266	0.706
18	47369613	T	C	18	49843243	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4609G:p.K1537E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4609G:p.K1537E;ENSG00000167306:ENST00000324581:exon13:c.A1954G:p.K652E;ENSG00000167306:ENST00000592688:exon3:c.A319G:p.K107E;	0.07163506411569	0.362
18	47369613	T	G	18	49843243	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4609C:p.K1537Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4609C:p.K1537Q;ENSG00000167306:ENST00000324581:exon13:c.A1954C:p.K652Q;ENSG00000167306:ENST00000592688:exon3:c.A319C:p.K107Q;	0.584488604574297	0.624
18	47369761	G	A	18	49843391	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon34:c.C4461T:p.D1487D;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.C4461T:p.D1487D;ENSG00000167306:ENST00000324581:exon13:c.C1806T:p.D602D;ENSG00000167306:ENST00000592688:exon3:c.C171T:p.D57D;	1.59163514984598E-5	0.0
18	47369761	G	C	18	49843391	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.C4461G:p.D1487E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.C4461G:p.D1487E;ENSG00000167306:ENST00000324581:exon13:c.C1806G:p.D602E;ENSG00000167306:ENST00000592688:exon3:c.C171G:p.D57E;	1.20216290008404E-5	0.002
18	47369761	G	T	18	49843391	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.C4461A:p.D1487E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.C4461A:p.D1487E;ENSG00000167306:ENST00000324581:exon13:c.C1806A:p.D602E;ENSG00000167306:ENST00000592688:exon3:c.C171A:p.D57E;	4.50099321265179E-5	0.006
18	47369762	T	A	18	49843392	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4460T:p.D1487V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4460T:p.D1487V;ENSG00000167306:ENST00000324581:exon13:c.A1805T:p.D602V;ENSG00000167306:ENST00000592688:exon3:c.A170T:p.D57V;	0.794458733332532	0.48
18	47369762	T	C	18	49843392	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4460G:p.D1487G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4460G:p.D1487G;ENSG00000167306:ENST00000324581:exon13:c.A1805G:p.D602G;ENSG00000167306:ENST00000592688:exon3:c.A170G:p.D57G;	9.97286537506799E-4	0.01
18	47369762	T	G	18	49843392	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon34:c.A4460C:p.D1487A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon34:c.A4460C:p.D1487A;ENSG00000167306:ENST00000324581:exon13:c.A1805C:p.D602A;ENSG00000167306:ENST00000592688:exon3:c.A170C:p.D57A;	0.0964259222912462	0.344
18	47369763	C	A	18	49843393	y	y	splicing	MYO5B(NM_001080467:exon35:c.4460-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4460-1G>T;ENST00000324581:exon14:c.1805-1G>T;ENST00000592779:exon15:c.1813-1G>T;ENST00000592688:exon4:c.170-1G>T)	.	.	0.999949496871441	0.934
18	47369763	C	G	18	49843393	y	y	splicing	MYO5B(NM_001080467:exon35:c.4460-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4460-1G>C;ENST00000324581:exon14:c.1805-1G>C;ENST00000592779:exon15:c.1813-1G>C;ENST00000592688:exon4:c.170-1G>C)	.	.	0.999949496871441	0.936
18	47369763	C	T	18	49843393	y	y	splicing	MYO5B(NM_001080467:exon35:c.4460-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4460-1G>A;ENST00000324581:exon14:c.1805-1G>A;ENST00000592779:exon15:c.1813-1G>A;ENST00000592688:exon4:c.170-1G>A)	.	.	0.999949496871441	0.934
18	47369764	T	A	18	49843394	y	y	splicing	MYO5B(NM_001080467:exon35:c.4460-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4460-2A>T;ENST00000324581:exon14:c.1805-2A>T;ENST00000592779:exon15:c.1813-2A>T;ENST00000592688:exon4:c.170-2A>T)	.	.	0.999946188727699	0.954
18	47369764	T	C	18	49843394	y	y	splicing	MYO5B(NM_001080467:exon35:c.4460-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4460-2A>G;ENST00000324581:exon14:c.1805-2A>G;ENST00000592779:exon15:c.1813-2A>G;ENST00000592688:exon4:c.170-2A>G)	.	.	0.999964896440643	0.952
18	47369764	T	G	18	49843394	y	y	splicing	MYO5B(NM_001080467:exon35:c.4460-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon35:c.4460-2A>C;ENST00000324581:exon14:c.1805-2A>C;ENST00000592779:exon15:c.1813-2A>C;ENST00000592688:exon4:c.170-2A>C)	.	.	0.999964896440643	0.952
18	47369765	A	C	18	49843395	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.931833162698456	0.682
18	47369765	A	G	18	49843395	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.4927472735523E-5	0.008
18	47369765	A	T	18	49843395	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0878546159198468	0.308
18	47369766	A	C	18	49843396	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.39389521264656E-5	0.006
18	47369766	A	G	18	49843396	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.12043854685718E-5	0.0
18	47369766	A	T	18	49843396	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.19921624993831E-5	0.0
18	47369767	G	A	18	49843397	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.92433116684672E-5	0.0
18	47369767	G	C	18	49843397	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00435497151609686	0.148
18	47369767	G	T	18	49843397	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00379448410115765	0.082
18	47369768	G	A	18	49843398	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.19760448236499E-5	0.002
18	47369768	G	C	18	49843398	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.03907646260929E-4	0.212
18	47369768	G	T	18	49843398	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.39787898819133E-4	0.224
18	47369769	G	A	18	49843399	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.0227352514306E-4	0.0
18	47369769	G	C	18	49843399	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.020125519623296	0.16
18	47369769	G	T	18	49843399	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00875289015442693	0.194
18	47369770	C	A	18	49843400	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.87605556046028E-4	0.002
18	47369770	C	G	18	49843400	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.68853679947246E-4	0.004
18	47369770	C	T	18	49843400	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00553305857159126	0.13
18	47369771	A	C	18	49843401	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0264432994638467	0.212
18	47369771	A	G	18	49843401	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.67956904004382E-4	0.0
18	47369771	A	T	18	49843401	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.99994062547394	0.972
18	47369772	A	C	18	49843402	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00579030277036696	0.23
18	47369772	A	G	18	49843402	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.80616898817597E-4	0.02
18	47369772	A	T	18	49843402	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0514148141549722	0.274
18	47369773	C	A	18	49843403	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.11384937843606E-5	0.056
18	47369773	C	G	18	49843403	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.24806337252335E-6	0.006
18	47369773	C	T	18	49843403	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.74107638585609E-5	0.016
18	47369774	G	A	18	49843404	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.99518370497169E-5	0.0
18	47369774	G	C	18	49843404	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.44944171358086E-4	0.06
18	47369774	G	T	18	49843404	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999430445003302	0.95
18	47373508	G	A	18	49847138	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.79815302939872E-5	0.0
18	47373508	G	C	18	49847138	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.79815302939872E-5	0.0
18	47373508	G	T	18	49847138	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.79815302939872E-5	0.0
18	47373509	T	A	18	49847139	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.78121459504523E-4	0.002
18	47373509	T	C	18	49847139	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.71464925181669E-4	0.004
18	47373509	T	G	18	49847139	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.34660495781397E-4	0.004
18	47373510	C	A	18	49847140	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.08382126575112E-5	0.002
18	47373510	C	G	18	49847140	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.67595996734566E-5	0.006
18	47373510	C	T	18	49847140	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.04972209955996E-4	0.008
18	47373511	C	A	18	49847141	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.716456323491086	0.514
18	47373511	C	G	18	49847141	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.407918466606957	0.472
18	47373511	C	T	18	49847141	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.870748765394862	0.544
18	47373512	T	A	18	49847142	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0176695665885971	0.186
18	47373512	T	C	18	49847142	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.175143834731727	0.246
18	47373512	T	G	18	49847142	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0262454833490359	0.204
18	47373513	T	A	18	49847143	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.704228890410381	0.448
18	47373513	T	C	18	49847143	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.11697365628301E-4	0.01
18	47373513	T	G	18	49847143	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.51322134934822	0.502
18	47373514	A	C	18	49847144	y	y	splicing	MYO5B(NM_001080467:exon34:c.4459+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4459+2T>G;ENST00000324581:exon13:c.1804+2T>G;ENST00000592779:exon14:c.1812+2T>G;ENST00000592688:exon3:c.169+2T>G)	.	.	0.999989917668626	0.924
18	47373514	A	G	18	49847144	y	y	splicing	MYO5B(NM_001080467:exon34:c.4459+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4459+2T>C;ENST00000324581:exon13:c.1804+2T>C;ENST00000592779:exon14:c.1812+2T>C;ENST00000592688:exon3:c.169+2T>C)	.	.	0.988042962918841	0.588
18	47373514	A	T	18	49847144	y	y	splicing	MYO5B(NM_001080467:exon34:c.4459+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4459+2T>A;ENST00000324581:exon13:c.1804+2T>A;ENST00000592779:exon14:c.1812+2T>A;ENST00000592688:exon3:c.169+2T>A)	.	.	0.999989917668626	0.926
18	47373515	C	A	18	49847145	y	y	splicing	MYO5B(NM_001080467:exon34:c.4459+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4459+1G>T;ENST00000324581:exon13:c.1804+1G>T;ENST00000592779:exon14:c.1812+1G>T;ENST00000592688:exon3:c.169+1G>T)	.	.	0.999986675681007	0.926
18	47373515	C	G	18	49847145	y	y	splicing	MYO5B(NM_001080467:exon34:c.4459+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4459+1G>C;ENST00000324581:exon13:c.1804+1G>C;ENST00000592779:exon14:c.1812+1G>C;ENST00000592688:exon3:c.169+1G>C)	.	.	0.999986675681007	0.926
18	47373515	C	T	18	49847145	y	y	splicing	MYO5B(NM_001080467:exon34:c.4459+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4459+1G>A;ENST00000324581:exon13:c.1804+1G>A;ENST00000592779:exon14:c.1812+1G>A;ENST00000592688:exon3:c.169+1G>A)	.	.	0.999986675681007	0.928
18	47373516	C	A	18	49847146	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.G4459T:p.D1487Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.G4459T:p.D1487Y;ENSG00000167306:ENST00000324581:exon12:c.G1804T:p.D602Y;ENSG00000167306:ENST00000592688:exon2:c.G169T:p.D57Y;	0.999705334747255	0.956
18	47373516	C	G	18	49847146	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.G4459C:p.D1487H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.G4459C:p.D1487H;ENSG00000167306:ENST00000324581:exon12:c.G1804C:p.D602H;ENSG00000167306:ENST00000592688:exon2:c.G169C:p.D57H;	0.99974703360321	0.972
18	47373516	C	T	18	49847146	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.G4459A:p.D1487N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.G4459A:p.D1487N;ENSG00000167306:ENST00000324581:exon12:c.G1804A:p.D602N;ENSG00000167306:ENST00000592688:exon2:c.G169A:p.D57N;	0.996667941461299	0.952
18	47373517	T	A	18	49847147	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon33:c.A4458T:p.T1486T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.A4458T:p.T1486T;ENSG00000167306:ENST00000324581:exon12:c.A1803T:p.T601T;ENSG00000167306:ENST00000592688:exon2:c.A168T:p.T56T;	0.220401748239048	0.432
18	47373517	T	C	18	49847147	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon33:c.A4458G:p.T1486T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.A4458G:p.T1486T;ENSG00000167306:ENST00000324581:exon12:c.A1803G:p.T601T;ENSG00000167306:ENST00000592688:exon2:c.A168G:p.T56T;	0.144423736076745	0.318
18	47373517	T	G	18	49847147	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon33:c.A4458C:p.T1486T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.A4458C:p.T1486T;ENSG00000167306:ENST00000324581:exon12:c.A1803C:p.T601T;ENSG00000167306:ENST00000592688:exon2:c.A168C:p.T56T;	0.130974980074697	0.436
18	47373518	G	A	18	49847148	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.C4457T:p.T1486I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.C4457T:p.T1486I;ENSG00000167306:ENST00000324581:exon12:c.C1802T:p.T601I;ENSG00000167306:ENST00000592688:exon2:c.C167T:p.T56I;	0.137724068651168	0.354
18	47373518	G	C	18	49847148	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.C4457G:p.T1486R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.C4457G:p.T1486R;ENSG00000167306:ENST00000324581:exon12:c.C1802G:p.T601R;ENSG00000167306:ENST00000592688:exon2:c.C167G:p.T56R;	0.034026720251338	0.138
18	47373518	G	T	18	49847148	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.C4457A:p.T1486K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.C4457A:p.T1486K;ENSG00000167306:ENST00000324581:exon12:c.C1802A:p.T601K;ENSG00000167306:ENST00000592688:exon2:c.C167A:p.T56K;	0.203980750489062	0.444
18	47373658	A	C	18	49847288	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon33:c.T4317G:p.A1439A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.T4317G:p.A1439A;ENSG00000167306:ENST00000324581:exon12:c.T1662G:p.A554A;ENSG00000167306:ENST00000592688:exon2:c.T27G:p.A9A;	9.17020457620003E-5	0.0
18	47373658	A	G	18	49847288	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon33:c.T4317C:p.A1439A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.T4317C:p.A1439A;ENSG00000167306:ENST00000324581:exon12:c.T1662C:p.A554A;ENSG00000167306:ENST00000592688:exon2:c.T27C:p.A9A;	1.1316848494265E-4	0.01
18	47373658	A	T	18	49847288	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon33:c.T4317A:p.A1439A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.T4317A:p.A1439A;ENSG00000167306:ENST00000324581:exon12:c.T1662A:p.A554A;ENSG00000167306:ENST00000592688:exon2:c.T27A:p.A9A;	3.64744630595287E-4	0.048
18	47373659	G	A	18	49847289	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.C4316T:p.A1439V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.C4316T:p.A1439V;ENSG00000167306:ENST00000324581:exon12:c.C1661T:p.A554V;ENSG00000167306:ENST00000592688:exon2:c.C26T:p.A9V;	0.00113717130013797	0.122
18	47373659	G	C	18	49847289	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.C4316G:p.A1439G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.C4316G:p.A1439G;ENSG00000167306:ENST00000324581:exon12:c.C1661G:p.A554G;ENSG00000167306:ENST00000592688:exon2:c.C26G:p.A9G;	5.71865896469569E-4	0.122
18	47373659	G	T	18	49847289	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon33:c.C4316A:p.A1439D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon33:c.C4316A:p.A1439D;ENSG00000167306:ENST00000324581:exon12:c.C1661A:p.A554D;ENSG00000167306:ENST00000592688:exon2:c.C26A:p.A9D;	0.00229931118226178	0.01
18	47373660	C	A	18	49847290	y	y	splicing	MYO5B(NM_001080467:exon34:c.4316-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4316-1G>T;ENST00000324581:exon13:c.1661-1G>T;ENST00000592779:exon14:c.1669-1G>T;ENST00000592688:exon3:c.26-1G>T)	.	.	0.99996748057446	0.874
18	47373660	C	G	18	49847290	y	y	splicing	MYO5B(NM_001080467:exon34:c.4316-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4316-1G>C;ENST00000324581:exon13:c.1661-1G>C;ENST00000592779:exon14:c.1669-1G>C;ENST00000592688:exon3:c.26-1G>C)	.	.	0.999969242257053	0.864
18	47373660	C	T	18	49847290	y	y	splicing	MYO5B(NM_001080467:exon34:c.4316-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4316-1G>A;ENST00000324581:exon13:c.1661-1G>A;ENST00000592779:exon14:c.1669-1G>A;ENST00000592688:exon3:c.26-1G>A)	.	.	0.99996748057446	0.878
18	47373661	T	A	18	49847291	y	y	splicing	MYO5B(NM_001080467:exon34:c.4316-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4316-2A>T;ENST00000324581:exon13:c.1661-2A>T;ENST00000592779:exon14:c.1669-2A>T;ENST00000592688:exon3:c.26-2A>T)	.	.	0.999982151912279	0.896
18	47373661	T	C	18	49847291	y	y	splicing	MYO5B(NM_001080467:exon34:c.4316-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4316-2A>G;ENST00000324581:exon13:c.1661-2A>G;ENST00000592779:exon14:c.1669-2A>G;ENST00000592688:exon3:c.26-2A>G)	.	.	0.999972871252391	0.884
18	47373661	T	G	18	49847291	y	y	splicing	MYO5B(NM_001080467:exon34:c.4316-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon34:c.4316-2A>C;ENST00000324581:exon13:c.1661-2A>C;ENST00000592779:exon14:c.1669-2A>C;ENST00000592688:exon3:c.26-2A>C)	.	.	0.999982151912279	0.886
18	47373662	G	A	18	49847292	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00662167862157447	0.148
18	47373662	G	C	18	49847292	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.999626617394536	0.898
18	47373662	G	T	18	49847292	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.316276548495345	0.528
18	47373663	A	C	18	49847293	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.88406347782042E-5	0.0
18	47373663	A	G	18	49847293	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.51834557616212E-5	0.004
18	47373663	A	T	18	49847293	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.03788270302302E-5	0.006
18	47373664	G	A	18	49847294	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.57507665795428E-5	0.0
18	47373664	G	C	18	49847294	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.62601720285839E-5	0.01
18	47373664	G	T	18	49847294	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.70577611026144E-5	0.004
18	47373665	C	A	18	49847295	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	6.01089903692692E-5	0.002
18	47373665	C	G	18	49847295	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.65209442151219E-5	0.008
18	47373665	C	T	18	49847295	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.42508059130237E-5	0.0
18	47373666	A	C	18	49847296	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.49826501005416E-4	0.024
18	47373666	A	G	18	49847296	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.37091873213545E-5	0.012
18	47373666	A	T	18	49847296	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.970901038798611	0.928
18	47373667	G	A	18	49847297	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.85663006210403E-4	0.028
18	47373667	G	C	18	49847297	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00211280628697186	0.144
18	47373667	G	T	18	49847297	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0105192958940912	0.146
18	47373668	G	A	18	49847298	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.8082988083367E-5	0.002
18	47373668	G	C	18	49847298	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.00586436705915612	0.046
18	47373668	G	T	18	49847298	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0070161475563529	0.036
18	47373669	A	C	18	49847299	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	3.23874010767917E-4	0.08
18	47373669	A	G	18	49847299	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.37960821986164E-5	0.006
18	47373669	A	T	18	49847299	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.28957136127661E-4	0.072
18	47373670	A	C	18	49847300	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.92215090604562E-4	0.184
18	47373670	A	G	18	49847300	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	8.37720805617206E-5	0.06
18	47373670	A	T	18	49847300	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.60275279087834E-4	0.16
18	47373671	A	C	18	49847301	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.09379335133616E-4	0.098
18	47373671	A	G	18	49847301	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.35248099003991E-5	0.0
18	47373671	A	T	18	49847301	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	9.8783138100995E-4	0.052
18	47375929	C	A	18	49849559	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.17486155721189E-5	0.0
18	47375929	C	G	18	49849559	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.44401018837748E-5	0.0
18	47375929	C	T	18	49849559	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.46272204038908E-5	0.0
18	47375930	C	A	18	49849560	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	2.33707190202088E-4	0.012
18	47375930	C	G	18	49849560	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.72618638952998E-4	0.008
18	47375930	C	T	18	49849560	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	5.79084816663706E-4	0.024
18	47375931	C	A	18	49849561	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.50322760294337E-6	0.0
18	47375931	C	G	18	49849561	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.44936529973334E-5	0.01
18	47375931	C	T	18	49849561	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	7.81436994014243E-6	0.008
18	47375932	C	A	18	49849562	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.323219224436151	0.206
18	47375932	C	G	18	49849562	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.0952823310226095	0.11
18	47375932	C	T	18	49849562	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.185777830548388	0.15
18	47375933	C	A	18	49849563	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.05064484040345E-5	0.01
18	47375933	C	G	18	49849563	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	1.05064484040345E-5	0.014
18	47375933	C	T	18	49849563	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	4.44662921271476E-5	0.024
18	47375934	T	A	18	49849564	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.985497338952992	0.642
18	47375934	T	C	18	49849564	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.366719689660114	0.486
18	47375934	T	G	18	49849564	y	y	intronic	MYO5B	.	.	ncRNA_intronic	ENSG00000267322	.	.	0.981603826442298	0.74
18	47375935	A	C	18	49849565	y	y	splicing	MYO5B(NM_001080467:exon33:c.4315+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon33:c.4315+2T>G;ENST00000324581:exon12:c.1660+2T>G;ENST00000592779:exon13:c.1668+2T>G;ENST00000592688:exon2:c.25+2T>G)	.	.	0.999989917668626	0.926
18	47375935	A	G	18	49849565	y	y	splicing	MYO5B(NM_001080467:exon33:c.4315+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon33:c.4315+2T>C;ENST00000324581:exon12:c.1660+2T>C;ENST00000592779:exon13:c.1668+2T>C;ENST00000592688:exon2:c.25+2T>C)	.	.	0.986528855787127	0.616
18	47375935	A	T	18	49849565	y	y	splicing	MYO5B(NM_001080467:exon33:c.4315+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon33:c.4315+2T>A;ENST00000324581:exon12:c.1660+2T>A;ENST00000592779:exon13:c.1668+2T>A;ENST00000592688:exon2:c.25+2T>A)	.	.	0.999989917668626	0.926
18	47375936	C	A	18	49849566	y	y	splicing	MYO5B(NM_001080467:exon33:c.4315+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon33:c.4315+1G>T;ENST00000324581:exon12:c.1660+1G>T;ENST00000592779:exon13:c.1668+1G>T;ENST00000592688:exon2:c.25+1G>T)	.	.	0.999986675681007	0.94
18	47375936	C	G	18	49849566	y	y	splicing	MYO5B(NM_001080467:exon33:c.4315+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon33:c.4315+1G>C;ENST00000324581:exon12:c.1660+1G>C;ENST00000592779:exon13:c.1668+1G>C;ENST00000592688:exon2:c.25+1G>C)	.	.	0.999986675681007	0.938
18	47375936	C	T	18	49849566	y	y	splicing	MYO5B(NM_001080467:exon33:c.4315+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon33:c.4315+1G>A;ENST00000324581:exon12:c.1660+1G>A;ENST00000592779:exon13:c.1668+1G>A;ENST00000592688:exon2:c.25+1G>A)	.	.	0.999986675681007	0.94
18	47375937	C	A	18	49849567	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.G4315T:p.A1439S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.G4315T:p.A1439S;ENSG00000167306:ENST00000324581:exon11:c.G1660T:p.A554S;ENSG00000167306:ENST00000592688:exon1:c.G25T:p.A9S;	0.999942224950326	1.0
18	47375937	C	G	18	49849567	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.G4315C:p.A1439P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.G4315C:p.A1439P;ENSG00000167306:ENST00000324581:exon11:c.G1660C:p.A554P;ENSG00000167306:ENST00000592688:exon1:c.G25C:p.A9P;	0.999996870966768	1.0
18	47375937	C	T	18	49849567	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.G4315A:p.A1439T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.G4315A:p.A1439T;ENSG00000167306:ENST00000324581:exon11:c.G1660A:p.A554T;ENSG00000167306:ENST00000592688:exon1:c.G25A:p.A9T;	0.999980748106619	0.998
18	47375938	T	A	18	49849568	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.A4314T:p.E1438D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4314T:p.E1438D;ENSG00000167306:ENST00000324581:exon11:c.A1659T:p.E553D;ENSG00000167306:ENST00000592688:exon1:c.A24T:p.E8D;	0.999865910228567	0.994
18	47375938	T	C	18	49849568	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon32:c.A4314G:p.E1438E;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4314G:p.E1438E;ENSG00000167306:ENST00000324581:exon11:c.A1659G:p.E553E;ENSG00000167306:ENST00000592688:exon1:c.A24G:p.E8E;	0.994267701242341	0.734
18	47375938	T	G	18	49849568	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.A4314C:p.E1438D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4314C:p.E1438D;ENSG00000167306:ENST00000324581:exon11:c.A1659C:p.E553D;ENSG00000167306:ENST00000592688:exon1:c.A24C:p.E8D;	0.999504382326688	0.958
18	47375939	T	A	18	49849569	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.A4313T:p.E1438V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4313T:p.E1438V;ENSG00000167306:ENST00000324581:exon11:c.A1658T:p.E553V;ENSG00000167306:ENST00000592688:exon1:c.A23T:p.E8V;	0.907511369240286	0.652
18	47375939	T	C	18	49849569	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.A4313G:p.E1438G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4313G:p.E1438G;ENSG00000167306:ENST00000324581:exon11:c.A1658G:p.E553G;ENSG00000167306:ENST00000592688:exon1:c.A23G:p.E8G;	0.0906339771930173	0.402
18	47375939	T	G	18	49849569	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.A4313C:p.E1438A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4313C:p.E1438A;ENSG00000167306:ENST00000324581:exon11:c.A1658C:p.E553A;ENSG00000167306:ENST00000592688:exon1:c.A23C:p.E8A;	0.506729423568291	0.484
18	47376029	T	A	18	49849659	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.A4223T:p.D1408V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4223T:p.D1408V;ENSG00000167306:ENST00000324581:exon11:c.A1568T:p.D523V;	0.722769631649811	0.76
18	47376029	T	C	18	49849659	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.A4223G:p.D1408G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4223G:p.D1408G;ENSG00000167306:ENST00000324581:exon11:c.A1568G:p.D523G;	0.680349574365631	0.592
18	47376029	T	G	18	49849659	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.A4223C:p.D1408A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.A4223C:p.D1408A;ENSG00000167306:ENST00000324581:exon11:c.A1568C:p.D523A;	0.831505452450713	0.79
18	47376030	C	A	18	49849660	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.G4222T:p.D1408Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.G4222T:p.D1408Y;ENSG00000167306:ENST00000324581:exon11:c.G1567T:p.D523Y;	0.999815378489257	0.982
18	47376030	C	G	18	49849660	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.G4222C:p.D1408H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.G4222C:p.D1408H;ENSG00000167306:ENST00000324581:exon11:c.G1567C:p.D523H;	0.99961937366575	0.988
18	47376030	C	T	18	49849660	y	n	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon32:c.G4222A:p.D1408N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon32:c.G4222A:p.D1408N;ENSG00000167306:ENST00000324581:exon11:c.G1567A:p.D523N;	0.998152016997348	0.944
18	47376031	C	A	18	49849661	y	n	splicing	MYO5B(NM_001080467:exon33:c.4222-1G>T)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999986675681007	0.934
18	47376031	C	G	18	49849661	y	n	splicing	MYO5B(NM_001080467:exon33:c.4222-1G>C)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999986675681007	0.934
18	47376031	C	T	18	49849661	y	n	splicing	MYO5B(NM_001080467:exon33:c.4222-1G>A)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999986675681007	0.934
18	47376032	T	A	18	49849662	y	n	splicing	MYO5B(NM_001080467:exon33:c.4222-2A>T)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999989917668626	0.928
18	47376032	T	C	18	49849662	y	n	splicing	MYO5B(NM_001080467:exon33:c.4222-2A>G)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999989917668626	0.928
18	47376032	T	G	18	49849662	y	n	splicing	MYO5B(NM_001080467:exon33:c.4222-2A>C)	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999989917668626	0.928
18	47376033	G	A	18	49849663	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00167481147041306	0.034
18	47376033	G	C	18	49849663	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.957855934818426	0.854
18	47376033	G	T	18	49849663	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.6972011259001	0.524
18	47376034	G	A	18	49849664	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	3.77362226534125E-5	0.018
18	47376034	G	C	18	49849664	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	2.06409324461516E-4	0.008
18	47376034	G	T	18	49849664	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	8.37479984078598E-5	0.01
18	47376035	A	C	18	49849665	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.0118658566677527	0.288
18	47376035	A	G	18	49849665	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	6.60584701247464E-4	0.07
18	47376035	A	T	18	49849665	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00785681291310623	0.256
18	47376036	A	C	18	49849666	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.0167545638355238	0.12
18	47376036	A	G	18	49849666	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	1.12697883857713E-4	0.002
18	47376036	A	T	18	49849666	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00567029179182163	0.086
18	47376037	G	A	18	49849667	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	7.63691582248822E-5	0.002
18	47376037	G	C	18	49849667	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.0117280137080715	0.132
18	47376037	G	T	18	49849667	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.0138547092089871	0.15
18	47376038	C	A	18	49849668	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	1.80004913434264E-4	0.0
18	47376038	C	G	18	49849668	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	3.17214115548703E-4	0.004
18	47376038	C	T	18	49849668	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	3.25518131666972E-4	0.002
18	47376039	A	C	18	49849669	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00199834606883801	0.076
18	47376039	A	G	18	49849669	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	1.23515041172673E-4	0.04
18	47376039	A	T	18	49849669	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.999684274740446	0.884
18	47376040	G	A	18	49849670	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	1.45924652585409E-5	0.006
18	47376040	G	C	18	49849670	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00286009432141043	0.224
18	47376040	G	T	18	49849670	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00416514811898827	0.182
18	47376041	A	C	18	49849671	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.659508378376683	0.54
18	47376041	A	G	18	49849671	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.0338266115430848	0.224
18	47376041	A	T	18	49849671	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.725618802156263	0.622
18	47376042	G	A	18	49849672	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	9.40743879757589E-5	0.006
18	47376042	G	C	18	49849672	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00917684095110374	0.276
18	47376042	G	T	18	49849672	y	n	intronic	MYO5B	.	.	ncRNA_exonic	ENSG00000267322	.	.	0.00582938219396825	0.258
18	47379811	C	A	18	49853441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.23099575682754E-4	0.026
18	47379811	C	G	18	49853441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.99307335326223E-4	0.07
18	47379811	C	T	18	49853441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.50646134531336E-4	0.014
18	47379812	T	A	18	49853442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00103278933590725	0.248
18	47379812	T	C	18	49853442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.12100189771887E-4	0.096
18	47379812	T	G	18	49853442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.72027538795936E-4	0.038
18	47379813	A	C	18	49853443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.697925818701695	0.594
18	47379813	A	G	18	49853443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.172258684266316	0.32
18	47379813	A	T	18	49853443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.682979816330438	0.552
18	47379814	C	A	18	49853444	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999973024126219	0.988
18	47379814	C	G	18	49853444	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999988620853111	0.984
18	47379814	C	T	18	49853444	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999967321387357	0.994
18	47379815	C	A	18	49853445	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.26500395935317E-5	0.04
18	47379815	C	G	18	49853445	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.46945584420118E-5	0.044
18	47379815	C	T	18	49853445	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.06617873940486E-5	0.036
18	47379816	C	A	18	49853446	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00147383553982447	0.16
18	47379816	C	G	18	49853446	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0149538622201464	0.286
18	47379816	C	T	18	49853446	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.49043395453664E-5	0.064
18	47379817	A	C	18	49853447	y	y	splicing	MYO5B(NM_001080467:exon32:c.4221+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4221+2T>G;ENST00000324581:exon11:c.1566+2T>G;ENST00000592779:exon12:c.1574+2T>G)	.	.	0.99999072735734	0.928
18	47379817	A	G	18	49853447	y	y	splicing	MYO5B(NM_001080467:exon32:c.4221+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4221+2T>C;ENST00000324581:exon11:c.1566+2T>C;ENST00000592779:exon12:c.1574+2T>C)	.	.	0.999957929084091	0.868
18	47379817	A	T	18	49853447	y	y	splicing	MYO5B(NM_001080467:exon32:c.4221+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4221+2T>A;ENST00000324581:exon11:c.1566+2T>A;ENST00000592779:exon12:c.1574+2T>A)	.	.	0.99999072735734	0.93
18	47379818	C	A	18	49853448	y	y	splicing	MYO5B(NM_001080467:exon32:c.4221+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4221+1G>T;ENST00000324581:exon11:c.1566+1G>T;ENST00000592779:exon12:c.1574+1G>T)	.	.	0.999931203076364	0.928
18	47379818	C	G	18	49853448	y	y	splicing	MYO5B(NM_001080467:exon32:c.4221+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4221+1G>C;ENST00000324581:exon11:c.1566+1G>C;ENST00000592779:exon12:c.1574+1G>C)	.	.	0.999931203076364	0.94
18	47379818	C	T	18	49853448	y	y	splicing	MYO5B(NM_001080467:exon32:c.4221+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4221+1G>A;ENST00000324581:exon11:c.1566+1G>A;ENST00000592779:exon12:c.1574+1G>A)	.	.	0.999931203076364	0.92
18	47379819	C	A	18	49853449	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon31:c.G4221T:p.L1407L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.G4221T:p.L1407L;ENSG00000167306:ENST00000324581:exon10:c.G1566T:p.L522L;	0.999956949793969	0.98
18	47379819	C	G	18	49853449	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon31:c.G4221C:p.L1407L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.G4221C:p.L1407L;ENSG00000167306:ENST00000324581:exon10:c.G1566C:p.L522L;	0.999987239260906	0.968
18	47379819	C	T	18	49853449	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon31:c.G4221A:p.L1407L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.G4221A:p.L1407L;ENSG00000167306:ENST00000324581:exon10:c.G1566A:p.L522L;	0.999978788181304	0.994
18	47379820	A	C	18	49853450	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.T4220G:p.L1407R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.T4220G:p.L1407R;ENSG00000167306:ENST00000324581:exon10:c.T1565G:p.L522R;	0.873410335681977	0.724
18	47379820	A	G	18	49853450	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.T4220C:p.L1407P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.T4220C:p.L1407P;ENSG00000167306:ENST00000324581:exon10:c.T1565C:p.L522P;	0.78921121678693	0.794
18	47379820	A	T	18	49853450	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.T4220A:p.L1407Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.T4220A:p.L1407Q;ENSG00000167306:ENST00000324581:exon10:c.T1565A:p.L522Q;	0.535344436973733	0.662
18	47379821	G	A	18	49853451	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon31:c.C4219T:p.L1407L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.C4219T:p.L1407L;ENSG00000167306:ENST00000324581:exon10:c.C1564T:p.L522L;	0.720365090572616	0.558
18	47379821	G	C	18	49853451	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.C4219G:p.L1407V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.C4219G:p.L1407V;ENSG00000167306:ENST00000324581:exon10:c.C1564G:p.L522V;	0.0678030768439978	0.31
18	47379821	G	T	18	49853451	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.C4219A:p.L1407M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.C4219A:p.L1407M;ENSG00000167306:ENST00000324581:exon10:c.C1564A:p.L522M;	0.0109990551813697	0.186
18	47380016	G	A	18	49853646	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon31:c.C4024T:p.L1342L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.C4024T:p.L1342L;ENSG00000167306:ENST00000324581:exon10:c.C1369T:p.L457L;	1.55488282451153E-5	0.0
18	47380016	G	C	18	49853646	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.C4024G:p.L1342V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.C4024G:p.L1342V;ENSG00000167306:ENST00000324581:exon10:c.C1369G:p.L457V;	2.10903895322162E-5	0.004
18	47380016	G	T	18	49853646	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.C4024A:p.L1342M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.C4024A:p.L1342M;ENSG00000167306:ENST00000324581:exon10:c.C1369A:p.L457M;	5.19724581460283E-5	0.002
18	47380017	C	A	18	49853647	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.G4023T:p.R1341S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.G4023T:p.R1341S;ENSG00000167306:ENST00000324581:exon10:c.G1368T:p.R456S;	0.998594710675959	0.922
18	47380017	C	G	18	49853647	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon31:c.G4023C:p.R1341S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.G4023C:p.R1341S;ENSG00000167306:ENST00000324581:exon10:c.G1368C:p.R456S;	0.998179892974148	0.912
18	47380017	C	T	18	49853647	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon31:c.G4023A:p.R1341R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon31:c.G4023A:p.R1341R;ENSG00000167306:ENST00000324581:exon10:c.G1368A:p.R456R;	0.136916921619924	0.382
18	47380018	C	A	18	49853648	y	y	splicing	MYO5B(NM_001080467:exon32:c.4023-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4023-1G>T;ENST00000324581:exon11:c.1368-1G>T;ENST00000592779:exon12:c.1376-1G>T)	.	.	0.999986903042585	0.922
18	47380018	C	G	18	49853648	y	y	splicing	MYO5B(NM_001080467:exon32:c.4023-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4023-1G>C;ENST00000324581:exon11:c.1368-1G>C;ENST00000592779:exon12:c.1376-1G>C)	.	.	0.99998174402319	0.92
18	47380018	C	T	18	49853648	y	y	splicing	MYO5B(NM_001080467:exon32:c.4023-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4023-1G>A;ENST00000324581:exon11:c.1368-1G>A;ENST00000592779:exon12:c.1376-1G>A)	.	.	0.999986903042585	0.922
18	47380019	T	A	18	49853649	y	y	splicing	MYO5B(NM_001080467:exon32:c.4023-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4023-2A>T;ENST00000324581:exon11:c.1368-2A>T;ENST00000592779:exon12:c.1376-2A>T)	.	.	0.999978791067592	0.926
18	47380019	T	C	18	49853649	y	y	splicing	MYO5B(NM_001080467:exon32:c.4023-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4023-2A>G;ENST00000324581:exon11:c.1368-2A>G;ENST00000592779:exon12:c.1376-2A>G)	.	.	0.999978791067592	0.934
18	47380019	T	G	18	49853649	y	y	splicing	MYO5B(NM_001080467:exon32:c.4023-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon32:c.4023-2A>C;ENST00000324581:exon11:c.1368-2A>C;ENST00000592779:exon12:c.1376-2A>C)	.	.	0.999978791067592	0.934
18	47380020	G	A	18	49853650	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00696086528431064	0.208
18	47380020	G	C	18	49853650	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999605164055116	0.872
18	47380020	G	T	18	49853650	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.965164988821832	0.7
18	47380021	T	A	18	49853651	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.76279934065317E-5	0.002
18	47380021	T	C	18	49853651	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.87504539763139E-5	0.0
18	47380021	T	G	18	49853651	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.05570444499254E-5	0.004
18	47380022	G	A	18	49853652	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.91951932692011E-5	0.0
18	47380022	G	C	18	49853652	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.11564857843777E-4	0.084
18	47380022	G	T	18	49853652	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.92190609662142E-4	0.054
18	47380023	C	A	18	49853653	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.45612225627207E-5	0.0
18	47380023	C	G	18	49853653	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.4495777165325E-5	0.0
18	47380023	C	T	18	49853653	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.90677321427464E-5	0.046
18	47380024	C	A	18	49853654	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.69644015517119E-4	0.006
18	47380024	C	G	18	49853654	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.91218793287321E-4	0.006
18	47380024	C	T	18	49853654	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998291541787317	0.962
18	47380025	A	C	18	49853655	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00222967999576162	0.164
18	47380025	A	G	18	49853655	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.41684997136604E-5	0.032
18	47380025	A	T	18	49853655	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999823400341864	0.922
18	47380026	G	A	18	49853656	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.59154855747429E-4	0.014
18	47380026	G	C	18	49853656	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0929720148880679	0.176
18	47380026	G	T	18	49853656	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0935999308012509	0.152
18	47380027	G	A	18	49853657	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.19911410596017E-5	0.002
18	47380027	G	C	18	49853657	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00526805571982215	0.118
18	47380027	G	T	18	49853657	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00439212117671434	0.074
18	47380028	G	A	18	49853658	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.93132905819136E-4	0.006
18	47380028	G	C	18	49853658	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.003763716911375	0.08
18	47380028	G	T	18	49853658	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0186071186346234	0.154
18	47380029	A	C	18	49853659	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.110101903131941	0.328
18	47380029	A	G	18	49853659	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.67914609359389E-4	0.018
18	47380029	A	T	18	49853659	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.253248549687791	0.38
18	47383175	T	A	18	49856805	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.46596526554591E-5	0.0
18	47383175	T	C	18	49856805	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.33285134764126E-6	0.0
18	47383175	T	G	18	49856805	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.46596526554591E-5	0.0
18	47383176	G	A	18	49856806	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.6908622229501E-4	0.016
18	47383176	G	C	18	49856806	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.86203189974588E-4	0.008
18	47383176	G	T	18	49856806	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.86203189974588E-4	0.014
18	47383177	T	A	18	49856807	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.60283418007628E-5	0.02
18	47383177	T	C	18	49856807	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.77808493502254E-5	0.024
18	47383177	T	G	18	49856807	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.24488014927997E-4	0.046
18	47383178	T	A	18	49856808	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0172290435478354	0.096
18	47383178	T	C	18	49856808	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.43776248034012E-4	0.21
18	47383178	T	G	18	49856808	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.55457333392276E-4	0.056
18	47383179	C	A	18	49856809	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.1215205523318E-4	0.056
18	47383179	C	G	18	49856809	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.63787016904307E-5	0.172
18	47383179	C	T	18	49856809	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.25611357942596E-5	0.034
18	47383180	C	A	18	49856810	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0355606442956615	0.34
18	47383180	C	G	18	49856810	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.884403293874584	0.634
18	47383180	C	T	18	49856810	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.43547584319125E-5	0.076
18	47383181	A	C	18	49856811	y	y	splicing	MYO5B(NM_001080467:exon31:c.4022+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.4022+2T>G)	.	.	0.999972123862924	0.93
18	47383181	A	G	18	49856811	y	y	splicing	MYO5B(NM_001080467:exon31:c.4022+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.4022+2T>C)	.	.	0.999954876628081	0.924
18	47383181	A	T	18	49856811	y	y	splicing	MYO5B(NM_001080467:exon31:c.4022+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.4022+2T>A)	.	.	0.999971864448174	0.926
18	47383182	C	A	18	49856812	y	y	splicing	MYO5B(NM_001080467:exon31:c.4022+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.4022+1G>T)	.	.	0.999948737127494	0.906
18	47383182	C	G	18	49856812	y	y	splicing	MYO5B(NM_001080467:exon31:c.4022+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.4022+1G>C)	.	.	0.999948737127494	0.906
18	47383182	C	T	18	49856812	y	y	splicing	MYO5B(NM_001080467:exon31:c.4022+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.4022+1G>A)	.	.	0.999948737127494	0.906
18	47383183	C	A	18	49856813	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.G4022T:p.R1341M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.G4022T:p.R1341M;	0.999970380421218	0.992
18	47383183	C	G	18	49856813	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.G4022C:p.R1341T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.G4022C:p.R1341T;	0.999984668034302	0.996
18	47383183	C	T	18	49856813	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.G4022A:p.R1341K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.G4022A:p.R1341K;	0.99998492414301	0.992
18	47383184	T	A	18	49856814	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.A4021T:p.R1341W;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.A4021T:p.R1341W;	0.999366530992952	0.958
18	47383184	T	C	18	49856814	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.A4021G:p.R1341G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.A4021G:p.R1341G;	0.999456589117034	0.96
18	47383184	T	G	18	49856814	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon30:c.A4021C:p.R1341R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.A4021C:p.R1341R;	0.996175286750449	0.914
18	47383185	G	A	18	49856815	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon30:c.C4020T:p.A1340A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.C4020T:p.A1340A;	0.998739756932091	0.762
18	47383185	G	C	18	49856815	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon30:c.C4020G:p.A1340A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.C4020G:p.A1340A;	0.811089075452835	0.49
18	47383185	G	T	18	49856815	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon30:c.C4020A:p.A1340A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.C4020A:p.A1340A;	0.267068739621362	0.316
18	47383259	T	A	18	49856889	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon30:c.A3946T:p.K1316X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon30:c.A3946T:p.K1316X;	8.34503485466149E-4	0.424
18	47383259	T	C	18	49856889	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.A3946G:p.K1316E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.A3946G:p.K1316E;	1.80483644599494E-4	0.008
18	47383259	T	G	18	49856889	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.A3946C:p.K1316Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.A3946C:p.K1316Q;	6.46501632900589E-4	0.026
18	47383260	G	A	18	49856890	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon30:c.C3945T:p.S1315S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.C3945T:p.S1315S;	0.0897004339245064	0.254
18	47383260	G	C	18	49856890	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.C3945G:p.S1315R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.C3945G:p.S1315R;	0.00266170098524657	0.054
18	47383260	G	T	18	49856890	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon30:c.C3945A:p.S1315R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon30:c.C3945A:p.S1315R;	0.00246240624009446	0.01
18	47383261	C	A	18	49856891	y	y	splicing	MYO5B(NM_001080467:exon31:c.3945-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.3945-1G>T)	.	.	0.999986675681007	0.94
18	47383261	C	G	18	49856891	y	y	splicing	MYO5B(NM_001080467:exon31:c.3945-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.3945-1G>C)	.	.	0.999986675681007	0.94
18	47383261	C	T	18	49856891	y	y	splicing	MYO5B(NM_001080467:exon31:c.3945-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.3945-1G>A)	.	.	0.999986675681007	0.94
18	47383262	T	A	18	49856892	y	y	splicing	MYO5B(NM_001080467:exon31:c.3945-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.3945-2A>T)	.	.	0.999989917668626	0.928
18	47383262	T	C	18	49856892	y	y	splicing	MYO5B(NM_001080467:exon31:c.3945-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.3945-2A>G)	.	.	0.999989917668626	0.928
18	47383262	T	G	18	49856892	y	y	splicing	MYO5B(NM_001080467:exon31:c.3945-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon31:c.3945-2A>C)	.	.	0.999989917668626	0.928
18	47383263	A	C	18	49856893	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.995585519304218	0.86
18	47383263	A	G	18	49856893	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.26017124643616E-4	0.004
18	47383263	A	T	18	49856893	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0323873331023185	0.298
18	47383264	G	A	18	49856894	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.61370310099817E-4	0.028
18	47383264	G	C	18	49856894	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.68796597531294E-4	0.018
18	47383264	G	T	18	49856894	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00158884176912331	0.044
18	47383265	A	C	18	49856895	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.971764524606317	0.722
18	47383265	A	G	18	49856895	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0660372272987853	0.188
18	47383265	A	T	18	49856895	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.960636607593662	0.752
18	47383266	A	C	18	49856896	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00319748740114383	0.098
18	47383266	A	G	18	49856896	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.01218475889065E-5	0.006
18	47383266	A	T	18	49856896	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00523488894310629	0.088
18	47383267	A	C	18	49856897	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.23396083931703	0.312
18	47383267	A	G	18	49856897	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00245109309441461	0.186
18	47383267	A	T	18	49856897	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.346348159510474	0.414
18	47383268	C	A	18	49856898	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.703936005281E-5	0.01
18	47383268	C	G	18	49856898	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.3431854448088E-5	0.004
18	47383268	C	T	18	49856898	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.33385039044509E-4	0.04
18	47383269	A	C	18	49856899	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00142186527079998	0.174
18	47383269	A	G	18	49856899	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.47710006376719E-4	0.17
18	47383269	A	T	18	49856899	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999947829898247	0.964
18	47383270	A	C	18	49856900	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.804779337449384	0.474
18	47383270	A	G	18	49856900	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.137092630114368	0.354
18	47383270	A	T	18	49856900	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.855131569549058	0.512
18	47383271	A	C	18	49856901	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0236839921606676	0.44
18	47383271	A	G	18	49856901	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0099400014019184	0.198
18	47383271	A	T	18	49856901	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.213365156384084	0.568
18	47383272	G	A	18	49856902	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.781574918971678	0.78
18	47383272	G	C	18	49856902	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.912690096733629	0.684
18	47383272	G	T	18	49856902	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.92515762231594	0.676
18	47389589	G	A	18	49863219	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.83771647685713E-5	0.002
18	47389589	G	C	18	49863219	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.83771647685713E-5	0.0
18	47389589	G	T	18	49863219	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.83771647685713E-5	0.032
18	47389590	G	A	18	49863220	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.35136398126773E-5	0.0
18	47389590	G	C	18	49863220	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.27213333055149E-5	0.002
18	47389590	G	T	18	49863220	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.58461283867531E-5	0.002
18	47389591	C	A	18	49863221	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.05278840788772E-5	0.0
18	47389591	C	G	18	49863221	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.70228107513119E-4	0.018
18	47389591	C	T	18	49863221	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.14635339628915E-4	0.01
18	47389592	C	A	18	49863222	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.96603270537159	0.702
18	47389592	C	G	18	49863222	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.935609226616921	0.696
18	47389592	C	T	18	49863222	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.993715694698617	0.778
18	47389593	T	A	18	49863223	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0155742090614057	0.17
18	47389593	T	C	18	49863223	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.117415154899209	0.24
18	47389593	T	G	18	49863223	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0399574113226766	0.248
18	47389594	T	A	18	49863224	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.859325035987758	0.632
18	47389594	T	C	18	49863224	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00178026056242956	0.138
18	47389594	T	G	18	49863224	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.969323632045084	0.66
18	47389595	A	C	18	49863225	y	y	splicing	MYO5B(NM_001080467:exon30:c.3944+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3944+2T>G;ENST00000324581:exon10:c.1367+2T>G;ENST00000592779:exon11:c.1375+2T>G)	.	.	0.999988247793601	0.93
18	47389595	A	G	18	49863225	y	y	splicing	MYO5B(NM_001080467:exon30:c.3944+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3944+2T>C;ENST00000324581:exon10:c.1367+2T>C;ENST00000592779:exon11:c.1375+2T>C)	.	.	0.99340600729494	0.672
18	47389595	A	T	18	49863225	y	y	splicing	MYO5B(NM_001080467:exon30:c.3944+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3944+2T>A;ENST00000324581:exon10:c.1367+2T>A;ENST00000592779:exon11:c.1375+2T>A)	.	.	0.999988247793601	0.93
18	47389596	C	A	18	49863226	y	y	splicing	MYO5B(NM_001080467:exon30:c.3944+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3944+1G>T;ENST00000324581:exon10:c.1367+1G>T;ENST00000592779:exon11:c.1375+1G>T)	.	.	0.999985532734767	0.938
18	47389596	C	G	18	49863226	y	y	splicing	MYO5B(NM_001080467:exon30:c.3944+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3944+1G>C;ENST00000324581:exon10:c.1367+1G>C;ENST00000592779:exon11:c.1375+1G>C)	.	.	0.999985532734767	0.938
18	47389596	C	T	18	49863226	y	y	splicing	MYO5B(NM_001080467:exon30:c.3944+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3944+1G>A;ENST00000324581:exon10:c.1367+1G>A;ENST00000592779:exon11:c.1375+1G>A)	.	.	0.999985532734767	0.938
18	47389597	C	A	18	49863227	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.G3944T:p.S1315I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.G3944T:p.S1315I;ENSG00000167306:ENST00000324581:exon9:c.G1367T:p.R456M;	0.99970289223612	0.974
18	47389597	C	G	18	49863227	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.G3944C:p.S1315T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.G3944C:p.S1315T;ENSG00000167306:ENST00000324581:exon9:c.G1367C:p.R456T;	0.999915347396352	0.94
18	47389597	C	T	18	49863227	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.G3944A:p.S1315N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.G3944A:p.S1315N;ENSG00000167306:ENST00000324581:exon9:c.G1367A:p.R456K;	0.999885216549997	0.962
18	47389598	T	A	18	49863228	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.A3943T:p.S1315C;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.A3943T:p.S1315C;ENSG00000167306:ENST00000324581:exon9:c.A1366T:p.R456W;	0.993498652794518	0.588
18	47389598	T	C	18	49863228	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.A3943G:p.S1315G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.A3943G:p.S1315G;ENSG00000167306:ENST00000324581:exon9:c.A1366G:p.R456G;	0.99649755347474	0.932
18	47389598	T	G	18	49863228	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.A3943C:p.S1315R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.A3943C:p.S1315R;	0.894897505584534	0.664
18	47389599	G	A	18	49863229	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon29:c.C3942T:p.N1314N;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.C3942T:p.N1314N;ENSG00000167306:ENST00000324581:exon9:c.C1365T:p.N455N;	0.988931000355142	0.606
18	47389599	G	C	18	49863229	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.C3942G:p.N1314K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.C3942G:p.N1314K;ENSG00000167306:ENST00000324581:exon9:c.C1365G:p.N455K;	0.916575890017102	0.62
18	47389599	G	T	18	49863229	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.C3942A:p.N1314K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.C3942A:p.N1314K;ENSG00000167306:ENST00000324581:exon9:c.C1365A:p.N455K;	0.942153321207161	0.736
18	47389696	T	A	18	49863326	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.A3845T:p.E1282V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.A3845T:p.E1282V;ENSG00000167306:ENST00000324581:exon9:c.A1268T:p.E423V;	0.0337775079590529	0.296
18	47389696	T	C	18	49863326	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.A3845G:p.E1282G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.A3845G:p.E1282G;ENSG00000167306:ENST00000324581:exon9:c.A1268G:p.E423G;	0.131318016163217	0.5
18	47389696	T	G	18	49863326	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.A3845C:p.E1282A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.A3845C:p.E1282A;ENSG00000167306:ENST00000324581:exon9:c.A1268C:p.E423A;	0.0850303345818885	0.438
18	47389697	C	A	18	49863327	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon29:c.G3844T:p.E1282X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon29:c.G3844T:p.E1282X;ENSG00000167306:ENST00000324581:exon9:c.G1267T:p.E423X;	0.999950494359222	0.996
18	47389697	C	G	18	49863327	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.G3844C:p.E1282Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.G3844C:p.E1282Q;ENSG00000167306:ENST00000324581:exon9:c.G1267C:p.E423Q;	0.999311658721704	0.964
18	47389697	C	T	18	49863327	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon29:c.G3844A:p.E1282K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon29:c.G3844A:p.E1282K;ENSG00000167306:ENST00000324581:exon9:c.G1267A:p.E423K;	0.989066051305339	0.868
18	47389698	C	A	18	49863328	y	y	splicing	MYO5B(NM_001080467:exon30:c.3844-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3844-1G>T;ENST00000324581:exon10:c.1267-1G>T;ENST00000592779:exon11:c.1275-1G>T)	.	.	0.999968849989454	0.966
18	47389698	C	G	18	49863328	y	y	splicing	MYO5B(NM_001080467:exon30:c.3844-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3844-1G>C;ENST00000324581:exon10:c.1267-1G>C;ENST00000592779:exon11:c.1275-1G>C)	.	.	0.999968849989454	0.966
18	47389698	C	T	18	49863328	y	y	splicing	MYO5B(NM_001080467:exon30:c.3844-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3844-1G>A;ENST00000324581:exon10:c.1267-1G>A;ENST00000592779:exon11:c.1275-1G>A)	.	.	0.999968560109063	0.966
18	47389699	T	A	18	49863329	y	y	splicing	MYO5B(NM_001080467:exon30:c.3844-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3844-2A>T;ENST00000324581:exon10:c.1267-2A>T;ENST00000592779:exon11:c.1275-2A>T)	.	.	0.99994568797423	0.964
18	47389699	T	C	18	49863329	y	y	splicing	MYO5B(NM_001080467:exon30:c.3844-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3844-2A>G;ENST00000324581:exon10:c.1267-2A>G;ENST00000592779:exon11:c.1275-2A>G)	.	.	0.999946188727699	0.964
18	47389699	T	G	18	49863329	y	y	splicing	MYO5B(NM_001080467:exon30:c.3844-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon30:c.3844-2A>C;ENST00000324581:exon10:c.1267-2A>C;ENST00000592779:exon11:c.1275-2A>C)	.	.	0.999946188727699	0.964
18	47389700	A	C	18	49863330	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.144950641468283	0.514
18	47389700	A	G	18	49863330	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.43217693628329E-5	0.0
18	47389700	A	T	18	49863330	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0155153790636462	0.226
18	47389701	G	A	18	49863331	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.65874467480529E-4	0.046
18	47389701	G	C	18	49863331	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00168240082813141	0.09
18	47389701	G	T	18	49863331	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.69342591297354E-4	0.072
18	47389702	A	C	18	49863332	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.418619020445907	0.45
18	47389702	A	G	18	49863332	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.71715108821228E-4	0.066
18	47389702	A	T	18	49863332	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.500870649459262	0.45
18	47389703	A	C	18	49863333	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.14548462028177	0.436
18	47389703	A	G	18	49863333	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.55064183567434E-4	0.038
18	47389703	A	T	18	49863333	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0393819352980654	0.418
18	47389704	A	C	18	49863334	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.59703810627284E-4	0.122
18	47389704	A	G	18	49863334	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.05494619622999E-4	0.01
18	47389704	A	T	18	49863334	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00366588653873725	0.172
18	47389705	G	A	18	49863335	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.06682201570014E-5	0.004
18	47389705	G	C	18	49863335	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.18939584279208E-4	0.06
18	47389705	G	T	18	49863335	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.4997410278334E-4	0.056
18	47389706	C	A	18	49863336	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.97861061478439E-5	0.036
18	47389706	C	G	18	49863336	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.1939745764639E-5	0.0
18	47389706	C	T	18	49863336	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00100706993635471	0.046
18	47389707	C	A	18	49863337	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.00838196426033E-4	0.018
18	47389707	C	G	18	49863337	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.96242976020953E-5	0.012
18	47389707	C	T	18	49863337	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998166111265852	0.988
18	47389708	C	A	18	49863338	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.90570122838916E-5	0.068
18	47389708	C	G	18	49863338	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.79000594005364E-5	0.012
18	47389708	C	T	18	49863338	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998631229112337	0.98
18	47389709	C	A	18	49863339	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.44788747633301E-4	0.05
18	47389709	C	G	18	49863339	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.16578767691183E-4	0.008
18	47389709	C	T	18	49863339	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998126477121627	0.968
18	47390503	C	A	18	49864133	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.65013704744595E-4	0.054
18	47390503	C	G	18	49864133	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.39123983253717E-5	0.0
18	47390503	C	T	18	49864133	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.84215723544949E-4	0.042
18	47390504	T	A	18	49864134	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.02051859250507E-4	0.064
18	47390504	T	C	18	49864134	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.07210152450169E-4	0.032
18	47390504	T	G	18	49864134	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.42709477187589E-5	0.0
18	47390505	T	A	18	49864135	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.27219349862041E-5	0.04
18	47390505	T	C	18	49864135	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.46728615213284E-5	0.006
18	47390505	T	G	18	49864135	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.52858008237225E-5	0.044
18	47390506	G	A	18	49864136	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.79987481469005E-5	0.0
18	47390506	G	C	18	49864136	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.66502427196406E-4	0.002
18	47390506	G	T	18	49864136	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.27884078386489E-5	0.008
18	47390507	T	A	18	49864137	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.981933596980581	0.768
18	47390507	T	C	18	49864137	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999374694512759	0.828
18	47390507	T	G	18	49864137	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.974393522403643	0.76
18	47390508	T	A	18	49864138	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999908999343769	0.852
18	47390508	T	C	18	49864138	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.993564082536934	0.746
18	47390508	T	G	18	49864138	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999908999343769	0.808
18	47390509	A	C	18	49864139	y	y	splicing	MYO5B(NM_001080467:exon29:c.3843+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3843+2T>G;ENST00000324581:exon9:c.1266+2T>G;ENST00000592779:exon10:c.1274+2T>G)	.	.	0.999978156327223	0.96
18	47390509	A	G	18	49864139	y	y	splicing	MYO5B(NM_001080467:exon29:c.3843+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3843+2T>C;ENST00000324581:exon9:c.1266+2T>C;ENST00000592779:exon10:c.1274+2T>C)	.	.	0.999864277025829	0.898
18	47390509	A	T	18	49864139	y	y	splicing	MYO5B(NM_001080467:exon29:c.3843+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3843+2T>A;ENST00000324581:exon9:c.1266+2T>A;ENST00000592779:exon10:c.1274+2T>A)	.	.	0.999978156327223	0.96
18	47390510	C	A	18	49864140	y	y	splicing	MYO5B(NM_001080467:exon29:c.3843+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3843+1G>T;ENST00000324581:exon9:c.1266+1G>T;ENST00000592779:exon10:c.1274+1G>T)	.	.	0.999916487880886	0.94
18	47390510	C	G	18	49864140	y	y	splicing	MYO5B(NM_001080467:exon29:c.3843+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3843+1G>C;ENST00000324581:exon9:c.1266+1G>C;ENST00000592779:exon10:c.1274+1G>C)	.	.	0.999916487880886	0.958
18	47390510	C	T	18	49864140	y	y	splicing	MYO5B(NM_001080467:exon29:c.3843+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3843+1G>A;ENST00000324581:exon9:c.1266+1G>A;ENST00000592779:exon10:c.1274+1G>A)	.	.	0.999916487880886	0.96
18	47390511	C	A	18	49864141	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon28:c.G3843T:p.A1281A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3843T:p.A1281A;ENSG00000167306:ENST00000324581:exon8:c.G1266T:p.A422A;	0.999941293499189	0.992
18	47390511	C	G	18	49864141	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon28:c.G3843C:p.A1281A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3843C:p.A1281A;ENSG00000167306:ENST00000324581:exon8:c.G1266C:p.A422A;	0.999991675324003	0.992
18	47390511	C	T	18	49864141	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon28:c.G3843A:p.A1281A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3843A:p.A1281A;ENSG00000167306:ENST00000324581:exon8:c.G1266A:p.A422A;	0.999973439413478	1.0
18	47390512	G	A	18	49864142	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.C3842T:p.A1281V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.C3842T:p.A1281V;ENSG00000167306:ENST00000324581:exon8:c.C1265T:p.A422V;	0.0434685998592598	0.108
18	47390512	G	C	18	49864142	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.C3842G:p.A1281G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.C3842G:p.A1281G;ENSG00000167306:ENST00000324581:exon8:c.C1265G:p.A422G;	0.082030339337724	0.188
18	47390512	G	T	18	49864142	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.C3842A:p.A1281E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.C3842A:p.A1281E;ENSG00000167306:ENST00000324581:exon8:c.C1265A:p.A422E;	2.41825294174805E-4	0.282
18	47390513	C	A	18	49864143	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.G3841T:p.A1281S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3841T:p.A1281S;ENSG00000167306:ENST00000324581:exon8:c.G1264T:p.A422S;	6.19337934430396E-5	0.0
18	47390513	C	G	18	49864143	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.G3841C:p.A1281P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3841C:p.A1281P;ENSG00000167306:ENST00000324581:exon8:c.G1264C:p.A422P;	1.13543645451835E-5	0.102
18	47390513	C	T	18	49864143	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.G3841A:p.A1281T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3841A:p.A1281T;ENSG00000167306:ENST00000324581:exon8:c.G1264A:p.A422T;	9.35140078828142E-6	0.006
18	47390749	C	A	18	49864379	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.G3605T:p.R1202M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3605T:p.R1202M;ENSG00000167306:ENST00000324581:exon8:c.G1028T:p.R343M;	0.975243431771128	0.836
18	47390749	C	G	18	49864379	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.G3605C:p.R1202T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3605C:p.R1202T;ENSG00000167306:ENST00000324581:exon8:c.G1028C:p.R343T;	0.97053039094997	0.838
18	47390749	C	T	18	49864379	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.G3605A:p.R1202K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.G3605A:p.R1202K;ENSG00000167306:ENST00000324581:exon8:c.G1028A:p.R343K;	0.966950211394958	0.726
18	47390750	T	A	18	49864380	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.A3604T:p.R1202W;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.A3604T:p.R1202W;ENSG00000167306:ENST00000324581:exon8:c.A1027T:p.R343W;	0.616056233674491	0.424
18	47390750	T	C	18	49864380	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon28:c.A3604G:p.R1202G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.A3604G:p.R1202G;ENSG00000167306:ENST00000324581:exon8:c.A1027G:p.R343G;	0.397180641309547	0.402
18	47390750	T	G	18	49864380	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon28:c.A3604C:p.R1202R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon28:c.A3604C:p.R1202R;ENSG00000167306:ENST00000324581:exon8:c.A1027C:p.R343R;	0.306063948393072	0.33
18	47390751	C	A	18	49864381	y	y	splicing	MYO5B(NM_001080467:exon29:c.3604-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3604-1G>T;ENST00000324581:exon9:c.1027-1G>T;ENST00000592779:exon10:c.1035-1G>T)	.	.	0.999984967332678	0.938
18	47390751	C	G	18	49864381	y	y	splicing	MYO5B(NM_001080467:exon29:c.3604-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3604-1G>C;ENST00000324581:exon9:c.1027-1G>C;ENST00000592779:exon10:c.1035-1G>C)	.	.	0.999984967332678	0.938
18	47390751	C	T	18	49864381	y	y	splicing	MYO5B(NM_001080467:exon29:c.3604-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3604-1G>A;ENST00000324581:exon9:c.1027-1G>A;ENST00000592779:exon10:c.1035-1G>A)	.	.	0.999984967332678	0.938
18	47390752	T	A	18	49864382	y	y	splicing	MYO5B(NM_001080467:exon29:c.3604-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3604-2A>T;ENST00000324581:exon9:c.1027-2A>T;ENST00000592779:exon10:c.1035-2A>T)	.	.	0.999986741007567	0.936
18	47390752	T	C	18	49864382	y	y	splicing	MYO5B(NM_001080467:exon29:c.3604-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3604-2A>G;ENST00000324581:exon9:c.1027-2A>G;ENST00000592779:exon10:c.1035-2A>G)	.	.	0.999986741007567	0.936
18	47390752	T	G	18	49864382	y	y	splicing	MYO5B(NM_001080467:exon29:c.3604-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon29:c.3604-2A>C;ENST00000324581:exon9:c.1027-2A>C;ENST00000592779:exon10:c.1035-2A>C)	.	.	0.999986741007567	0.936
18	47390753	G	A	18	49864383	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0091195995570603	0.16
18	47390753	G	C	18	49864383	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999896895875382	0.87
18	47390753	G	T	18	49864383	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.990013566315587	0.854
18	47390754	G	A	18	49864384	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.35902849179568E-4	0.012
18	47390754	G	C	18	49864384	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.70222429234946E-4	0.002
18	47390754	G	T	18	49864384	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.443850852198E-4	0.01
18	47390755	A	C	18	49864385	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.836668199794947	0.706
18	47390755	A	G	18	49864385	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00456079999905095	0.114
18	47390755	A	T	18	49864385	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.936944346305002	0.808
18	47390756	A	C	18	49864386	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.952247280521356	0.78
18	47390756	A	G	18	49864386	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00368170146925068	0.094
18	47390756	A	T	18	49864386	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.983619249453732	0.848
18	47390757	G	A	18	49864387	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.51528858690729E-5	0.032
18	47390757	G	C	18	49864387	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0012114885068461	0.054
18	47390757	G	T	18	49864387	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00122467612282861	0.126
18	47390758	A	C	18	49864388	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.133961515215981	0.442
18	47390758	A	G	18	49864388	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.78411082373924E-4	0.062
18	47390758	A	T	18	49864388	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.274276183043974	0.458
18	47390759	C	A	18	49864389	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.13865846771022E-5	0.038
18	47390759	C	G	18	49864389	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.23739953925235E-5	0.004
18	47390759	C	T	18	49864389	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00151026375926539	0.058
18	47390760	A	C	18	49864390	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0183000415183147	0.348
18	47390760	A	G	18	49864390	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00115172667651505	0.182
18	47390760	A	T	18	49864390	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999968657658802	0.984
18	47390761	G	A	18	49864391	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.43912563859529E-4	0.014
18	47390761	G	C	18	49864391	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0211454087001893	0.204
18	47390761	G	T	18	49864391	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0290104022495163	0.288
18	47390762	C	A	18	49864392	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.04953281720175E-5	0.04
18	47390762	C	G	18	49864392	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.95054957356005E-5	0.0
18	47390762	C	T	18	49864392	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.60845903603559E-4	0.06
18	47398529	A	C	18	49872159	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.31728475292647E-5	0.0
18	47398529	A	G	18	49872159	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.92932915562044E-5	0.0
18	47398529	A	T	18	49872159	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.92932915562044E-5	0.0
18	47398530	A	C	18	49872160	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.44454674516076E-5	0.0
18	47398530	A	G	18	49872160	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.3519283322177E-6	0.0
18	47398530	A	T	18	49872160	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.44454674516076E-5	0.0
18	47398531	T	A	18	49872161	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.55325828195904E-4	0.018
18	47398531	T	C	18	49872161	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.85905098174288E-4	0.022
18	47398531	T	G	18	49872161	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00362106201991131	0.024
18	47398532	C	A	18	49872162	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.979436329428125	0.63
18	47398532	C	G	18	49872162	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.943450830603741	0.734
18	47398532	C	T	18	49872162	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.992759335697152	0.666
18	47398533	T	A	18	49872163	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.989642666123489	0.84
18	47398533	T	C	18	49872163	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.990293708429994	0.784
18	47398533	T	G	18	49872163	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.985630222507713	0.844
18	47398534	T	A	18	49872164	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.983467439075455	0.7
18	47398534	T	C	18	49872164	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0030437561388905	0.244
18	47398534	T	G	18	49872164	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.876437799862165	0.684
18	47398535	A	C	18	49872165	y	y	splicing	MYO5B(NM_001080467:exon28:c.3603+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3603+2T>G;ENST00000324581:exon8:c.1026+2T>G;ENST00000592779:exon9:c.1034+2T>G)	.	.	0.999993519952936	0.93
18	47398535	A	G	18	49872165	y	y	splicing	MYO5B(NM_001080467:exon28:c.3603+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3603+2T>C;ENST00000324581:exon8:c.1026+2T>C;ENST00000592779:exon9:c.1034+2T>C)	.	.	0.993596150545159	0.586
18	47398535	A	T	18	49872165	y	y	splicing	MYO5B(NM_001080467:exon28:c.3603+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3603+2T>A;ENST00000324581:exon8:c.1026+2T>A;ENST00000592779:exon9:c.1034+2T>A)	.	.	0.999993519952936	0.93
18	47398536	C	A	18	49872166	y	y	splicing	MYO5B(NM_001080467:exon28:c.3603+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3603+1G>T;ENST00000324581:exon8:c.1026+1G>T;ENST00000592779:exon9:c.1034+1G>T)	.	.	0.999988247793601	0.936
18	47398536	C	G	18	49872166	y	y	splicing	MYO5B(NM_001080467:exon28:c.3603+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3603+1G>C;ENST00000324581:exon8:c.1026+1G>C;ENST00000592779:exon9:c.1034+1G>C)	.	.	0.999988247793601	0.936
18	47398536	C	T	18	49872166	y	y	splicing	MYO5B(NM_001080467:exon28:c.3603+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3603+1G>A;ENST00000324581:exon8:c.1026+1G>A;ENST00000592779:exon9:c.1034+1G>A)	.	.	0.999988247793601	0.936
18	47398537	C	A	18	49872167	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.G3603T:p.K1201N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.G3603T:p.K1201N;ENSG00000167306:ENST00000324581:exon7:c.G1026T:p.K342N;	0.999943995739997	0.976
18	47398537	C	G	18	49872167	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.G3603C:p.K1201N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.G3603C:p.K1201N;ENSG00000167306:ENST00000324581:exon7:c.G1026C:p.K342N;	0.999962468878933	0.972
18	47398537	C	T	18	49872167	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon27:c.G3603A:p.K1201K;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.G3603A:p.K1201K;ENSG00000167306:ENST00000324581:exon7:c.G1026A:p.K342K;	0.999557136947743	0.928
18	47398538	T	A	18	49872168	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.A3602T:p.K1201M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.A3602T:p.K1201M;ENSG00000167306:ENST00000324581:exon7:c.A1025T:p.K342M;	0.987483059658554	0.716
18	47398538	T	C	18	49872168	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.A3602G:p.K1201R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.A3602G:p.K1201R;ENSG00000167306:ENST00000324581:exon7:c.A1025G:p.K342R;	0.995460298475334	0.932
18	47398538	T	G	18	49872168	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.A3602C:p.K1201T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.A3602C:p.K1201T;ENSG00000167306:ENST00000324581:exon7:c.A1025C:p.K342T;	0.990375049915033	0.846
18	47398539	T	A	18	49872169	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon27:c.A3601T:p.K1201X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon27:c.A3601T:p.K1201X;ENSG00000167306:ENST00000324581:exon7:c.A1024T:p.K342X;	0.910379209955085	0.614
18	47398539	T	C	18	49872169	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.A3601G:p.K1201E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.A3601G:p.K1201E;ENSG00000167306:ENST00000324581:exon7:c.A1024G:p.K342E;	0.148413082764843	0.4
18	47398539	T	G	18	49872169	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.A3601C:p.K1201Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.A3601C:p.K1201Q;ENSG00000167306:ENST00000324581:exon7:c.A1024C:p.K342Q;	0.615017733194658	0.64
18	47398601	G	A	18	49872231	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.C3539T:p.A1180V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.C3539T:p.A1180V;ENSG00000167306:ENST00000324581:exon7:c.C962T:p.A321V;	8.33120585384977E-6	0.008
18	47398601	G	C	18	49872231	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.C3539G:p.A1180G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.C3539G:p.A1180G;ENSG00000167306:ENST00000324581:exon7:c.C962G:p.A321G;	1.79434408075316E-5	0.0
18	47398601	G	T	18	49872231	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.C3539A:p.A1180E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.C3539A:p.A1180E;ENSG00000167306:ENST00000324581:exon7:c.C962A:p.A321E;	9.15952848421576E-6	0.028
18	47398602	C	A	18	49872232	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.G3538T:p.A1180S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.G3538T:p.A1180S;ENSG00000167306:ENST00000324581:exon7:c.G961T:p.A321S;	0.0443891737078443	0.428
18	47398602	C	G	18	49872232	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.G3538C:p.A1180P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.G3538C:p.A1180P;ENSG00000167306:ENST00000324581:exon7:c.G961C:p.A321P;	0.018807201353761	0.348
18	47398602	C	T	18	49872232	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon27:c.G3538A:p.A1180T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon27:c.G3538A:p.A1180T;ENSG00000167306:ENST00000324581:exon7:c.G961A:p.A321T;	0.0190808279435314	0.146
18	47398603	C	A	18	49872233	y	y	splicing	MYO5B(NM_001080467:exon28:c.3538-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3538-1G>T;ENST00000324581:exon8:c.961-1G>T;ENST00000592779:exon9:c.969-1G>T)	.	.	0.999969255906173	0.882
18	47398603	C	G	18	49872233	y	y	splicing	MYO5B(NM_001080467:exon28:c.3538-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3538-1G>C;ENST00000324581:exon8:c.961-1G>C;ENST00000592779:exon9:c.969-1G>C)	.	.	0.999969255906173	0.866
18	47398603	C	T	18	49872233	y	y	splicing	MYO5B(NM_001080467:exon28:c.3538-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3538-1G>A;ENST00000324581:exon8:c.961-1G>A;ENST00000592779:exon9:c.969-1G>A)	.	.	0.999972155025474	0.89
18	47398604	T	A	18	49872234	y	y	splicing	MYO5B(NM_001080467:exon28:c.3538-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3538-2A>T;ENST00000324581:exon8:c.961-2A>T;ENST00000592779:exon9:c.969-2A>T)	.	.	0.99998382861657	0.872
18	47398604	T	C	18	49872234	y	y	splicing	MYO5B(NM_001080467:exon28:c.3538-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3538-2A>G;ENST00000324581:exon8:c.961-2A>G;ENST00000592779:exon9:c.969-2A>G)	.	.	0.999980516178445	0.854
18	47398604	T	G	18	49872234	y	y	splicing	MYO5B(NM_001080467:exon28:c.3538-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon28:c.3538-2A>C;ENST00000324581:exon8:c.961-2A>C;ENST00000592779:exon9:c.969-2A>C)	.	.	0.999980516178445	0.856
18	47398605	G	A	18	49872235	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.020099007774982	0.256
18	47398605	G	C	18	49872235	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999794478554899	0.86
18	47398605	G	T	18	49872235	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.987725909346668	0.706
18	47398606	C	A	18	49872236	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.63004154130482E-5	0.01
18	47398606	C	G	18	49872236	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.03500683710339E-5	0.012
18	47398606	C	T	18	49872236	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.75675730535632E-5	0.016
18	47398607	A	C	18	49872237	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997983948770733	0.918
18	47398607	A	G	18	49872237	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.24357793374965E-5	0.038
18	47398607	A	T	18	49872237	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.989910463411961	0.704
18	47398608	T	A	18	49872238	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.27219349862041E-5	0.002
18	47398608	T	C	18	49872238	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.12356558850198E-5	0.0
18	47398608	T	G	18	49872238	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.26647561599247E-5	0.004
18	47398609	G	A	18	49872239	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.63815054401743E-5	0.0
18	47398609	G	C	18	49872239	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.43127556510305E-4	0.07
18	47398609	G	T	18	49872239	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.02119270125101E-4	0.028
18	47398610	G	A	18	49872240	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.63848932324593E-4	0.028
18	47398610	G	C	18	49872240	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0154606915427455	0.074
18	47398610	G	T	18	49872240	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0127334290053676	0.15
18	47398611	A	C	18	49872241	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999034538051204	0.92
18	47398611	A	G	18	49872241	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.79024223466479E-4	0.008
18	47398611	A	T	18	49872241	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00461226459616963	0.106
18	47398612	T	A	18	49872242	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.27219349862041E-5	0.0
18	47398612	T	C	18	49872242	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.29922128697636E-5	0.018
18	47398612	T	G	18	49872242	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.89171835944506E-6	0.0
18	47398613	A	C	18	49872243	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0380182553484351	0.366
18	47398613	A	G	18	49872243	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.12258524814295E-4	0.112
18	47398613	A	T	18	49872243	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0317685940138159	0.466
18	47398614	G	A	18	49872244	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.77817066441065E-5	0.006
18	47398614	G	C	18	49872244	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00123935252608712	0.024
18	47398614	G	T	18	49872244	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.5748512894297E-4	0.036
18	47402049	T	A	18	49875679	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.25524929795369E-5	0.0
18	47402049	T	C	18	49875679	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.84591834988285E-5	0.002
18	47402049	T	G	18	49875679	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.3519283322177E-6	0.0
18	47402050	C	A	18	49875680	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.08692400722682E-5	0.0
18	47402050	C	G	18	49875680	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.94716658651354E-5	0.0
18	47402050	C	T	18	49875680	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.94716658651354E-5	0.0
18	47402051	A	C	18	49875681	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.44495207816306E-4	0.052
18	47402051	A	G	18	49875681	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.93162182694853E-4	0.06
18	47402051	A	T	18	49875681	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.80327103362329E-4	0.038
18	47402052	C	A	18	49875682	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.580037775107066	0.54
18	47402052	C	G	18	49875682	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.705632946018798	0.54
18	47402052	C	T	18	49875682	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.620382136216132	0.532
18	47402053	G	A	18	49875683	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.17142518166511E-5	0.004
18	47402053	G	C	18	49875683	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.93324052601598E-5	0.022
18	47402053	G	T	18	49875683	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.99513615581882E-5	0.018
18	47402054	T	A	18	49875684	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.173979193355642	0.426
18	47402054	T	C	18	49875684	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00116772085649185	0.064
18	47402054	T	G	18	49875684	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.526094420159808	0.47
18	47402055	A	C	18	49875685	y	y	splicing	MYO5B(NM_001080467:exon27:c.3537+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3537+2T>G;ENST00000324581:exon7:c.960+2T>G;ENST00000592779:exon8:c.968+2T>G)	.	.	0.999982151912279	0.89
18	47402055	A	G	18	49875685	y	y	splicing	MYO5B(NM_001080467:exon27:c.3537+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3537+2T>C;ENST00000324581:exon7:c.960+2T>C;ENST00000592779:exon8:c.968+2T>C)	.	.	0.97320105905861	0.56
18	47402055	A	T	18	49875685	y	y	splicing	MYO5B(NM_001080467:exon27:c.3537+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3537+2T>A;ENST00000324581:exon7:c.960+2T>A;ENST00000592779:exon8:c.968+2T>A)	.	.	0.999970104448312	0.892
18	47402056	C	A	18	49875686	y	y	splicing	MYO5B(NM_001080467:exon27:c.3537+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3537+1G>T;ENST00000324581:exon7:c.960+1G>T;ENST00000592779:exon8:c.968+1G>T)	.	.	0.999986675681007	0.94
18	47402056	C	G	18	49875686	y	y	splicing	MYO5B(NM_001080467:exon27:c.3537+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3537+1G>C;ENST00000324581:exon7:c.960+1G>C;ENST00000592779:exon8:c.968+1G>C)	.	.	0.999986675681007	0.94
18	47402056	C	T	18	49875686	y	y	splicing	MYO5B(NM_001080467:exon27:c.3537+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3537+1G>A;ENST00000324581:exon7:c.960+1G>A;ENST00000592779:exon8:c.968+1G>A)	.	.	0.999986675681007	0.94
18	47402057	C	A	18	49875687	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.G3537T:p.Q1179H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.G3537T:p.Q1179H;ENSG00000167306:ENST00000324581:exon6:c.G960T:p.Q320H;	0.99968790705126	0.97
18	47402057	C	G	18	49875687	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.G3537C:p.Q1179H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.G3537C:p.Q1179H;ENSG00000167306:ENST00000324581:exon6:c.G960C:p.Q320H;	0.999087405537138	0.896
18	47402057	C	T	18	49875687	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon26:c.G3537A:p.Q1179Q;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.G3537A:p.Q1179Q;ENSG00000167306:ENST00000324581:exon6:c.G960A:p.Q320Q;	0.972097793261094	0.794
18	47402058	T	A	18	49875688	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.A3536T:p.Q1179L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.A3536T:p.Q1179L;ENSG00000167306:ENST00000324581:exon6:c.A959T:p.Q320L;	0.249477276118099	0.56
18	47402058	T	C	18	49875688	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.A3536G:p.Q1179R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.A3536G:p.Q1179R;ENSG00000167306:ENST00000324581:exon6:c.A959G:p.Q320R;	0.171198894887366	0.39
18	47402058	T	G	18	49875688	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.A3536C:p.Q1179P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.A3536C:p.Q1179P;ENSG00000167306:ENST00000324581:exon6:c.A959C:p.Q320P;	0.213365067313225	0.52
18	47402059	G	A	18	49875689	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon26:c.C3535T:p.Q1179X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon26:c.C3535T:p.Q1179X;ENSG00000167306:ENST00000324581:exon6:c.C958T:p.Q320X;	0.997161275114657	0.826
18	47402059	G	C	18	49875689	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.C3535G:p.Q1179E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.C3535G:p.Q1179E;ENSG00000167306:ENST00000324581:exon6:c.C958G:p.Q320E;	0.00133653568376835	0.08
18	47402059	G	T	18	49875689	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.C3535A:p.Q1179K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.C3535A:p.Q1179K;ENSG00000167306:ENST00000324581:exon6:c.C958A:p.Q320K;	0.00374046851527966	0.078
18	47402196	T	A	18	49875826	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.A3398T:p.E1133V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.A3398T:p.E1133V;ENSG00000167306:ENST00000324581:exon6:c.A821T:p.E274V;	0.773945195212646	0.75
18	47402196	T	C	18	49875826	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.A3398G:p.E1133G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.A3398G:p.E1133G;ENSG00000167306:ENST00000324581:exon6:c.A821G:p.E274G;	0.613030187146364	0.59
18	47402196	T	G	18	49875826	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.A3398C:p.E1133A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.A3398C:p.E1133A;ENSG00000167306:ENST00000324581:exon6:c.A821C:p.E274A;	0.585148592745638	0.708
18	47402197	C	A	18	49875827	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon26:c.G3397T:p.E1133X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon26:c.G3397T:p.E1133X;ENSG00000167306:ENST00000324581:exon6:c.G820T:p.E274X;	0.99990975589796	0.998
18	47402197	C	G	18	49875827	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.G3397C:p.E1133Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.G3397C:p.E1133Q;ENSG00000167306:ENST00000324581:exon6:c.G820C:p.E274Q;	0.999628022090946	0.98
18	47402197	C	T	18	49875827	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon26:c.G3397A:p.E1133K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon26:c.G3397A:p.E1133K;ENSG00000167306:ENST00000324581:exon6:c.G820A:p.E274K;	0.999018662042242	0.974
18	47402198	C	A	18	49875828	y	y	splicing	MYO5B(NM_001080467:exon27:c.3397-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3397-1G>T;ENST00000324581:exon7:c.820-1G>T;ENST00000592779:exon8:c.828-1G>T)	.	.	0.999986675681007	0.94
18	47402198	C	G	18	49875828	y	y	splicing	MYO5B(NM_001080467:exon27:c.3397-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3397-1G>C;ENST00000324581:exon7:c.820-1G>C;ENST00000592779:exon8:c.828-1G>C)	.	.	0.999986675681007	0.94
18	47402198	C	T	18	49875828	y	y	splicing	MYO5B(NM_001080467:exon27:c.3397-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3397-1G>A;ENST00000324581:exon7:c.820-1G>A;ENST00000592779:exon8:c.828-1G>A)	.	.	0.999986675681007	0.94
18	47402199	T	A	18	49875829	y	y	splicing	MYO5B(NM_001080467:exon27:c.3397-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3397-2A>T;ENST00000324581:exon7:c.820-2A>T;ENST00000592779:exon8:c.828-2A>T)	.	.	0.999986903042585	0.926
18	47402199	T	C	18	49875829	y	y	splicing	MYO5B(NM_001080467:exon27:c.3397-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3397-2A>G;ENST00000324581:exon7:c.820-2A>G;ENST00000592779:exon8:c.828-2A>G)	.	.	0.999966203349492	0.924
18	47402199	T	G	18	49875829	y	y	splicing	MYO5B(NM_001080467:exon27:c.3397-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon27:c.3397-2A>C;ENST00000324581:exon7:c.820-2A>C;ENST00000592779:exon8:c.828-2A>C)	.	.	0.99998174402319	0.924
18	47402200	T	A	18	49875830	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.77837365931465E-5	0.0
18	47402200	T	C	18	49875830	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0212891721018858	0.194
18	47402200	T	G	18	49875830	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.05847059106884E-5	0.008
18	47402201	C	A	18	49875831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.99070298201993E-5	0.02
18	47402201	C	G	18	49875831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.67326865294757E-5	0.014
18	47402201	C	T	18	49875831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.98906097063439E-5	0.014
18	47402202	A	C	18	49875832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0451289938957428	0.27
18	47402202	A	G	18	49875832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.34066424913844E-4	0.028
18	47402202	A	T	18	49875832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999628006242995	0.918
18	47402203	A	C	18	49875833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00156611036530017	0.116
18	47402203	A	G	18	49875833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.65824424791777E-4	0.014
18	47402203	A	T	18	49875833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00178154215848648	0.094
18	47402204	A	C	18	49875834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00276860717992888	0.082
18	47402204	A	G	18	49875834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.09627382003372E-4	0.016
18	47402204	A	T	18	49875834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00808051696121793	0.05
18	47402205	G	A	18	49875835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.6932126524082E-5	0.0
18	47402205	G	C	18	49875835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00360331386998618	0.048
18	47402205	G	T	18	49875835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00465641928504956	0.012
18	47402206	G	A	18	49875836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.94002520586021E-5	0.002
18	47402206	G	C	18	49875836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.38419211159629E-4	0.018
18	47402206	G	T	18	49875836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.32774615104298E-4	0.006
18	47402207	A	C	18	49875837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00118405605781943	0.062
18	47402207	A	G	18	49875837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.18244083442176E-5	0.022
18	47402207	A	T	18	49875837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00242680543233693	0.07
18	47402208	A	C	18	49875838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.85507667686985E-4	0.1
18	47402208	A	G	18	49875838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.9344098198437E-4	0.03
18	47402208	A	T	18	49875838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00168429688956117	0.168
18	47402209	G	A	18	49875839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.68881259668284E-5	0.0
18	47402209	G	C	18	49875839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.06657594754971E-4	0.016
18	47402209	G	T	18	49875839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.82813989690509E-4	0.018
18	47404125	T	A	18	49877755	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.20515503001209E-5	0.074
18	47404125	T	C	18	49877755	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.37003707713669E-5	0.0
18	47404125	T	G	18	49877755	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.81159136363845E-5	0.0
18	47404126	C	A	18	49877756	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.02783319746707E-5	0.0
18	47404126	C	G	18	49877756	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.28209394548904E-6	0.0
18	47404126	C	T	18	49877756	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.28209394548904E-6	0.0
18	47404127	A	C	18	49877757	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.3392274513693E-4	0.024
18	47404127	A	G	18	49877757	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00650977553995297	0.058
18	47404127	A	T	18	49877757	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0083161525292665	0.072
18	47404128	C	A	18	49877758	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999475174725912	0.89
18	47404128	C	G	18	49877758	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999618273775312	0.918
18	47404128	C	T	18	49877758	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999049919553495	0.924
18	47404129	T	A	18	49877759	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.727586479327242	0.42
18	47404129	T	C	18	49877759	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.603422603507469	0.448
18	47404129	T	G	18	49877759	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.103502230316996	0.302
18	47404130	C	A	18	49877760	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0489971978678951	0.2
18	47404130	C	G	18	49877760	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0629370315559201	0.246
18	47404130	C	T	18	49877760	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.88458608545409E-6	0.0
18	47404131	A	C	18	49877761	y	y	splicing	MYO5B(NM_001080467:exon26:c.3396+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3396+2T>G;ENST00000324581:exon6:c.819+2T>G;ENST00000592779:exon7:c.827+2T>G)	.	.	0.99994568797423	0.928
18	47404131	A	G	18	49877761	y	y	splicing	MYO5B(NM_001080467:exon26:c.3396+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3396+2T>C;ENST00000324581:exon6:c.819+2T>C;ENST00000592779:exon7:c.827+2T>C)	.	.	0.999509554936914	0.848
18	47404131	A	T	18	49877761	y	y	splicing	MYO5B(NM_001080467:exon26:c.3396+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3396+2T>A;ENST00000324581:exon6:c.819+2T>A;ENST00000592779:exon7:c.827+2T>A)	.	.	0.99994568797423	0.924
18	47404132	C	A	18	49877762	y	y	splicing	MYO5B(NM_001080467:exon26:c.3396+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3396+1G>T;ENST00000324581:exon6:c.819+1G>T;ENST00000592779:exon7:c.827+1G>T)	.	.	0.999986675681007	0.934
18	47404132	C	G	18	49877762	y	y	splicing	MYO5B(NM_001080467:exon26:c.3396+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3396+1G>C;ENST00000324581:exon6:c.819+1G>C;ENST00000592779:exon7:c.827+1G>C)	.	.	0.999986675681007	0.934
18	47404132	C	T	18	49877762	y	y	splicing	MYO5B(NM_001080467:exon26:c.3396+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3396+1G>A;ENST00000324581:exon6:c.819+1G>A;ENST00000592779:exon7:c.827+1G>A)	.	.	0.999986675681007	0.934
18	47404133	C	A	18	49877763	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.G3396T:p.E1132D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.G3396T:p.E1132D;ENSG00000167306:ENST00000324581:exon5:c.G819T:p.E273D;	0.923555984537313	0.866
18	47404133	C	G	18	49877763	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.G3396C:p.E1132D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.G3396C:p.E1132D;ENSG00000167306:ENST00000324581:exon5:c.G819C:p.E273D;	0.981689847326164	0.806
18	47404133	C	T	18	49877763	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon25:c.G3396A:p.E1132E;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.G3396A:p.E1132E;ENSG00000167306:ENST00000324581:exon5:c.G819A:p.E273E;	0.771239229898351	0.448
18	47404134	T	A	18	49877764	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.A3395T:p.E1132V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.A3395T:p.E1132V;ENSG00000167306:ENST00000324581:exon5:c.A818T:p.E273V;	0.998770880563871	0.876
18	47404134	T	C	18	49877764	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.A3395G:p.E1132G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.A3395G:p.E1132G;ENSG00000167306:ENST00000324581:exon5:c.A818G:p.E273G;	0.999574624271972	0.978
18	47404134	T	G	18	49877764	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.A3395C:p.E1132A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.A3395C:p.E1132A;ENSG00000167306:ENST00000324581:exon5:c.A818C:p.E273A;	0.991612673338911	0.896
18	47404135	C	A	18	49877765	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon25:c.G3394T:p.E1132X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon25:c.G3394T:p.E1132X;ENSG00000167306:ENST00000324581:exon5:c.G817T:p.E273X;	0.988657839672089	0.886
18	47404135	C	G	18	49877765	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.G3394C:p.E1132Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.G3394C:p.E1132Q;ENSG00000167306:ENST00000324581:exon5:c.G817C:p.E273Q;	0.935250932439774	0.712
18	47404135	C	T	18	49877765	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.G3394A:p.E1132K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.G3394A:p.E1132K;ENSG00000167306:ENST00000324581:exon5:c.G817A:p.E273K;	0.954069000693257	0.778
18	47404251	T	A	18	49877881	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.A3278T:p.Q1093L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.A3278T:p.Q1093L;ENSG00000167306:ENST00000324581:exon5:c.A701T:p.Q234L;	0.00217901793734035	0.052
18	47404251	T	C	18	49877881	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.A3278G:p.Q1093R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.A3278G:p.Q1093R;ENSG00000167306:ENST00000324581:exon5:c.A701G:p.Q234R;	0.43365357867182	0.458
18	47404251	T	G	18	49877881	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.A3278C:p.Q1093P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.A3278C:p.Q1093P;ENSG00000167306:ENST00000324581:exon5:c.A701C:p.Q234P;	0.941902007243266	0.7
18	47404252	G	A	18	49877882	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon25:c.C3277T:p.Q1093X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon25:c.C3277T:p.Q1093X;ENSG00000167306:ENST00000324581:exon5:c.C700T:p.Q234X;	0.996546660232575	0.938
18	47404252	G	C	18	49877882	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.C3277G:p.Q1093E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.C3277G:p.Q1093E;ENSG00000167306:ENST00000324581:exon5:c.C700G:p.Q234E;	0.00573822848468003	0.102
18	47404252	G	T	18	49877882	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon25:c.C3277A:p.Q1093K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon25:c.C3277A:p.Q1093K;ENSG00000167306:ENST00000324581:exon5:c.C700A:p.Q234K;	0.00401924276634585	0.058
18	47404253	C	A	18	49877883	y	y	splicing	MYO5B(NM_001080467:exon26:c.3277-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3277-1G>T;ENST00000324581:exon6:c.700-1G>T;ENST00000592779:exon7:c.708-1G>T)	.	.	0.999980524662349	0.934
18	47404253	C	G	18	49877883	y	y	splicing	MYO5B(NM_001080467:exon26:c.3277-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3277-1G>C;ENST00000324581:exon6:c.700-1G>C;ENST00000592779:exon7:c.708-1G>C)	.	.	0.999972853204913	0.934
18	47404253	C	T	18	49877883	y	y	splicing	MYO5B(NM_001080467:exon26:c.3277-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3277-1G>A;ENST00000324581:exon6:c.700-1G>A;ENST00000592779:exon7:c.708-1G>A)	.	.	0.999980524662349	0.94
18	47404254	T	A	18	49877884	y	y	splicing	MYO5B(NM_001080467:exon26:c.3277-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3277-2A>T;ENST00000324581:exon6:c.700-2A>T;ENST00000592779:exon7:c.708-2A>T)	.	.	0.999986741007567	0.942
18	47404254	T	C	18	49877884	y	y	splicing	MYO5B(NM_001080467:exon26:c.3277-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3277-2A>G;ENST00000324581:exon6:c.700-2A>G;ENST00000592779:exon7:c.708-2A>G)	.	.	0.999976254090479	0.936
18	47404254	T	G	18	49877884	y	y	splicing	MYO5B(NM_001080467:exon26:c.3277-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon26:c.3277-2A>C;ENST00000324581:exon6:c.700-2A>C;ENST00000592779:exon7:c.708-2A>C)	.	.	0.999981537975149	0.94
18	47404255	G	A	18	49877885	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0083321069994441	0.162
18	47404255	G	C	18	49877885	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999403807435275	0.948
18	47404255	G	T	18	49877885	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.993940964144264	0.862
18	47404256	T	A	18	49877886	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00356648469541061	0.052
18	47404256	T	C	18	49877886	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.975200311170384	0.816
18	47404256	T	G	18	49877886	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00129169891439033	0.052
18	47404257	T	A	18	49877887	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.7062225164063E-5	0.034
18	47404257	T	C	18	49877887	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.52232906670002E-5	0.01
18	47404257	T	G	18	49877887	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.04770104587232E-5	0.008
18	47404258	C	A	18	49877888	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.56225784245404E-5	0.004
18	47404258	C	G	18	49877888	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.27219349862041E-5	0.0
18	47404258	C	T	18	49877888	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.5598698270403E-6	0.0
18	47404259	A	C	18	49877889	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0039352812107857	0.048
18	47404259	A	G	18	49877889	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.78493505964729E-4	0.022
18	47404259	A	T	18	49877889	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999434561774228	0.974
18	47404260	A	C	18	49877890	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00395770066707213	0.21
18	47404260	A	G	18	49877890	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.84692705917701E-5	0.016
18	47404260	A	T	18	49877890	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0375636654893654	0.332
18	47404261	C	A	18	49877891	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.06481237244302E-5	0.006
18	47404261	C	G	18	49877891	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.06481237244302E-5	0.0
18	47404261	C	T	18	49877891	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.4026356481758E-5	0.002
18	47404262	A	C	18	49877892	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0118626457030341	0.146
18	47404262	A	G	18	49877892	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.71506182172214E-4	0.008
18	47404262	A	T	18	49877892	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999784429630777	0.884
18	47404263	A	C	18	49877893	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.301836632086951	0.664
18	47404263	A	G	18	49877893	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0579974617165162	0.24
18	47404263	A	T	18	49877893	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.451973104946992	0.666
18	47404264	G	A	18	49877894	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.78905801326303E-4	0.05
18	47404264	G	C	18	49877894	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00191967593042555	0.116
18	47404264	G	T	18	49877894	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00273266607851873	0.096
18	47405459	A	C	18	49879089	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon24:c.T3132G:p.D1044E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon24:c.T3132G:p.D1044E;ENSG00000167306:ENST00000324581:exon4:c.T555G:p.D185E;	3.48821515828601E-4	0.102
18	47405459	A	G	18	49879089	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon24:c.T3132C:p.D1044D;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon24:c.T3132C:p.D1044D;ENSG00000167306:ENST00000324581:exon4:c.T555C:p.D185D;	0.00219786943915769	0.1
18	47405459	A	T	18	49879089	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon24:c.T3132A:p.D1044E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon24:c.T3132A:p.D1044E;ENSG00000167306:ENST00000324581:exon4:c.T555A:p.D185E;	5.52492219901727E-4	0.11
18	47405460	T	A	18	49879090	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon24:c.A3131T:p.D1044V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon24:c.A3131T:p.D1044V;ENSG00000167306:ENST00000324581:exon4:c.A554T:p.D185V;	0.00242759546660592	0.11
18	47405460	T	C	18	49879090	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon24:c.A3131G:p.D1044G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon24:c.A3131G:p.D1044G;ENSG00000167306:ENST00000324581:exon4:c.A554G:p.D185G;	2.5621836388012E-4	0.0
18	47405460	T	G	18	49879090	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon24:c.A3131C:p.D1044A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon24:c.A3131C:p.D1044A;ENSG00000167306:ENST00000324581:exon4:c.A554C:p.D185A;	0.0062101682369173	0.14
18	47405461	C	A	18	49879091	y	y	splicing	MYO5B(NM_001080467:exon25:c.3131-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon25:c.3131-1G>T;ENST00000324581:exon5:c.554-1G>T;ENST00000592779:exon6:c.562-1G>T)	.	.	0.999986675681007	0.938
18	47405461	C	G	18	49879091	y	y	splicing	MYO5B(NM_001080467:exon25:c.3131-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon25:c.3131-1G>C;ENST00000324581:exon5:c.554-1G>C;ENST00000592779:exon6:c.562-1G>C)	.	.	0.999986675681007	0.93
18	47405461	C	T	18	49879091	y	y	splicing	MYO5B(NM_001080467:exon25:c.3131-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon25:c.3131-1G>A;ENST00000324581:exon5:c.554-1G>A;ENST00000592779:exon6:c.562-1G>A)	.	.	0.999986675681007	0.938
18	47405462	T	A	18	49879092	y	y	splicing	MYO5B(NM_001080467:exon25:c.3131-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon25:c.3131-2A>T;ENST00000324581:exon5:c.554-2A>T;ENST00000592779:exon6:c.562-2A>T)	.	.	0.999989917668626	0.926
18	47405462	T	C	18	49879092	y	y	splicing	MYO5B(NM_001080467:exon25:c.3131-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon25:c.3131-2A>G;ENST00000324581:exon5:c.554-2A>G;ENST00000592779:exon6:c.562-2A>G)	.	.	0.999989917668626	0.924
18	47405462	T	G	18	49879092	y	y	splicing	MYO5B(NM_001080467:exon25:c.3131-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon25:c.3131-2A>C;ENST00000324581:exon5:c.554-2A>C;ENST00000592779:exon6:c.562-2A>C)	.	.	0.999989917668626	0.924
18	47405463	G	A	18	49879093	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0469453098672691	0.146
18	47405463	G	C	18	49879093	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997883893866168	0.908
18	47405463	G	T	18	49879093	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.987266461299558	0.846
18	47405464	G	A	18	49879094	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.64642989760073E-5	0.0
18	47405464	G	C	18	49879094	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.3964654730064E-4	0.012
18	47405464	G	T	18	49879094	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.29025440293545E-5	0.0
18	47405465	A	C	18	49879095	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.720212736432904	0.636
18	47405465	A	G	18	49879095	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00463417869302919	0.072
18	47405465	A	T	18	49879095	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.878838290558949	0.712
18	47405466	A	C	18	49879096	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.566807861390763	0.468
18	47405466	A	G	18	49879096	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.49257605818763E-4	0.002
18	47405466	A	T	18	49879096	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.361141132715713	0.396
18	47405467	A	C	18	49879097	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00290705374027713	0.016
18	47405467	A	G	18	49879097	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.62330423352711E-5	0.002
18	47405467	A	T	18	49879097	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00147056880568657	0.014
18	47405468	G	A	18	49879098	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.02371133254797E-4	0.002
18	47405468	G	C	18	49879098	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00317596996588049	0.036
18	47405468	G	T	18	49879098	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00218798057064391	0.072
18	47405469	C	A	18	49879099	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.98501777021816E-5	0.0
18	47405469	C	G	18	49879099	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.95076949036759E-5	0.0
18	47405469	C	T	18	49879099	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.94620071733045E-5	0.014
18	47405470	A	C	18	49879100	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0144492503981479	0.348
18	47405470	A	G	18	49879100	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.09604172987763E-4	0.036
18	47405470	A	T	18	49879100	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999945012823033	0.988
18	47405471	A	C	18	49879101	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.03446886762595	0.182
18	47405471	A	G	18	49879101	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.80537707061284E-4	0.054
18	47405471	A	T	18	49879101	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.190567996376702	0.188
18	47405472	C	A	18	49879102	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.12157390925007E-5	0.008
18	47405472	C	G	18	49879102	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.06995222333613E-5	0.002
18	47405472	C	T	18	49879102	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.114067787342E-4	0.002
18	47406733	G	A	18	49880363	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.016809246825924	0.042
18	47406733	G	C	18	49880363	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0140010265662432	0.03
18	47406733	G	T	18	49880363	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.016809246825924	0.038
18	47406734	T	A	18	49880364	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.14650723768467E-4	0.002
18	47406734	T	C	18	49880364	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.85324216365432E-5	0.0
18	47406734	T	G	18	49880364	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.85324216365432E-5	0.0
18	47406735	A	C	18	49880365	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.22662217403459E-4	0.128
18	47406735	A	G	18	49880365	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00362622473664006	0.176
18	47406735	A	T	18	49880365	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00540628057123866	0.206
18	47406736	C	A	18	49880366	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.836727342412672	0.532
18	47406736	C	G	18	49880366	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.669261485987342	0.476
18	47406736	C	T	18	49880366	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.575843635948594	0.506
18	47406737	T	A	18	49880367	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.038350234814825	0.214
18	47406737	T	C	18	49880367	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0289045044672608	0.23
18	47406737	T	G	18	49880367	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0491731671861766	0.27
18	47406738	T	A	18	49880368	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.105215817707687	0.358
18	47406738	T	C	18	49880368	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.89780016615301E-4	0.046
18	47406738	T	G	18	49880368	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0708085769273055	0.318
18	47406739	A	C	18	49880369	y	y	splicing	MYO5B(NM_001080467:exon24:c.3130+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3130+2T>G;ENST00000324581:exon4:c.553+2T>G;ENST00000592779:exon5:c.561+2T>G)	.	.	0.999988247793601	0.926
18	47406739	A	G	18	49880369	y	y	splicing	MYO5B(NM_001080467:exon24:c.3130+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3130+2T>C;ENST00000324581:exon4:c.553+2T>C;ENST00000592779:exon5:c.561+2T>C)	.	.	0.988163425542712	0.61
18	47406739	A	T	18	49880369	y	y	splicing	MYO5B(NM_001080467:exon24:c.3130+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3130+2T>A;ENST00000324581:exon4:c.553+2T>A;ENST00000592779:exon5:c.561+2T>A)	.	.	0.999988247793601	0.926
18	47406740	C	A	18	49880370	y	y	splicing	MYO5B(NM_001080467:exon24:c.3130+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3130+1G>T;ENST00000324581:exon4:c.553+1G>T;ENST00000592779:exon5:c.561+1G>T)	.	.	0.999985532734767	0.936
18	47406740	C	G	18	49880370	y	y	splicing	MYO5B(NM_001080467:exon24:c.3130+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3130+1G>C;ENST00000324581:exon4:c.553+1G>C;ENST00000592779:exon5:c.561+1G>C)	.	.	0.999985532734767	0.934
18	47406740	C	T	18	49880370	y	y	splicing	MYO5B(NM_001080467:exon24:c.3130+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3130+1G>A;ENST00000324581:exon4:c.553+1G>A;ENST00000592779:exon5:c.561+1G>A)	.	.	0.999985532734767	0.936
18	47406741	C	A	18	49880371	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.G3130T:p.D1044Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.G3130T:p.D1044Y;ENSG00000167306:ENST00000324581:exon3:c.G553T:p.D185Y;	0.99954690733923	0.872
18	47406741	C	G	18	49880371	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.G3130C:p.D1044H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.G3130C:p.D1044H;ENSG00000167306:ENST00000324581:exon3:c.G553C:p.D185H;	0.999018825652825	0.886
18	47406741	C	T	18	49880371	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.G3130A:p.D1044N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.G3130A:p.D1044N;ENSG00000167306:ENST00000324581:exon3:c.G553A:p.D185N;	0.998423942092664	0.882
18	47406742	T	A	18	49880372	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.A3129T:p.K1043N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.A3129T:p.K1043N;ENSG00000167306:ENST00000324581:exon3:c.A552T:p.K184N;	0.985782627850041	0.648
18	47406742	T	C	18	49880372	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon23:c.A3129G:p.K1043K;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.A3129G:p.K1043K;ENSG00000167306:ENST00000324581:exon3:c.A552G:p.K184K;	0.869853188333614	0.56
18	47406742	T	G	18	49880372	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.A3129C:p.K1043N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.A3129C:p.K1043N;ENSG00000167306:ENST00000324581:exon3:c.A552C:p.K184N;	0.982236302250855	0.706
18	47406743	T	A	18	49880373	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.A3128T:p.K1043I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.A3128T:p.K1043I;ENSG00000167306:ENST00000324581:exon3:c.A551T:p.K184I;	0.00281118220516418	0.17
18	47406743	T	C	18	49880373	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.A3128G:p.K1043R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.A3128G:p.K1043R;ENSG00000167306:ENST00000324581:exon3:c.A551G:p.K184R;	3.42729351633909E-4	0.01
18	47406743	T	G	18	49880373	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.A3128C:p.K1043T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.A3128C:p.K1043T;ENSG00000167306:ENST00000324581:exon3:c.A551C:p.K184T;	1.92061803851947E-4	0.004
18	47406824	C	A	18	49880454	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.G3047T:p.R1016L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.G3047T:p.R1016L;ENSG00000167306:ENST00000324581:exon3:c.G470T:p.R157L;	0.00527911211006499	0.062
18	47406824	C	G	18	49880454	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.G3047C:p.R1016P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.G3047C:p.R1016P;ENSG00000167306:ENST00000324581:exon3:c.G470C:p.R157P;	0.371673786332725	0.508
18	47406824	C	T	18	49880454	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.G3047A:p.R1016Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.G3047A:p.R1016Q;ENSG00000167306:ENST00000324581:exon3:c.G470A:p.R157Q;	0.00165520791626736	0.104
18	47406825	G	A	18	49880455	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon23:c.C3046T:p.R1016X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon23:c.C3046T:p.R1016X;ENSG00000167306:ENST00000324581:exon3:c.C469T:p.R157X;	0.157603294891083	0.19
18	47406825	G	C	18	49880455	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon23:c.C3046G:p.R1016G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.C3046G:p.R1016G;ENSG00000167306:ENST00000324581:exon3:c.C469G:p.R157G;	2.51645420693716E-4	0.056
18	47406825	G	T	18	49880455	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon23:c.C3046A:p.R1016R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon23:c.C3046A:p.R1016R;ENSG00000167306:ENST00000324581:exon3:c.C469A:p.R157R;	9.06105846882213E-5	0.0
18	47406826	C	A	18	49880456	y	y	splicing	MYO5B(NM_001080467:exon24:c.3046-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3046-1G>T;ENST00000324581:exon4:c.469-1G>T;ENST00000592779:exon5:c.477-1G>T)	.	.	0.999974090184857	0.938
18	47406826	C	G	18	49880456	y	y	splicing	MYO5B(NM_001080467:exon24:c.3046-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3046-1G>C;ENST00000324581:exon4:c.469-1G>C;ENST00000592779:exon5:c.477-1G>C)	.	.	0.999974090184857	0.932
18	47406826	C	T	18	49880456	y	y	splicing	MYO5B(NM_001080467:exon24:c.3046-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3046-1G>A;ENST00000324581:exon4:c.469-1G>A;ENST00000592779:exon5:c.477-1G>A)	.	.	0.999985532734767	0.938
18	47406827	T	A	18	49880457	y	y	splicing	MYO5B(NM_001080467:exon24:c.3046-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3046-2A>T;ENST00000324581:exon4:c.469-2A>T;ENST00000592779:exon5:c.477-2A>T)	.	.	0.999978952611685	0.928
18	47406827	T	C	18	49880457	y	y	splicing	MYO5B(NM_001080467:exon24:c.3046-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3046-2A>G;ENST00000324581:exon4:c.469-2A>G;ENST00000592779:exon5:c.477-2A>G)	.	.	0.99994568797423	0.93
18	47406827	T	G	18	49880457	y	y	splicing	MYO5B(NM_001080467:exon24:c.3046-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon24:c.3046-2A>C;ENST00000324581:exon4:c.469-2A>C;ENST00000592779:exon5:c.477-2A>C)	.	.	0.99994568797423	0.93
18	47406828	G	A	18	49880458	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00938847612641178	0.17
18	47406828	G	C	18	49880458	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999840825423753	0.954
18	47406828	G	T	18	49880458	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.98227076682705	0.712
18	47406829	G	A	18	49880459	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.34733690896339E-5	0.0
18	47406829	G	C	18	49880459	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.236411048378E-5	0.0
18	47406829	G	T	18	49880459	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.51965981708353E-5	0.004
18	47406830	A	C	18	49880460	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.096614855703765	0.356
18	47406830	A	G	18	49880460	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0054349681933682	0.19
18	47406830	A	T	18	49880460	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0354829869102591	0.318
18	47406831	A	C	18	49880461	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00781072133708064	0.152
18	47406831	A	G	18	49880461	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.57977346926602E-4	0.004
18	47406831	A	T	18	49880461	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0220370607384527	0.124
18	47406832	G	A	18	49880462	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.10614024776662E-5	0.0
18	47406832	G	C	18	49880462	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.37560172383449E-4	0.082
18	47406832	G	T	18	49880462	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.55907368115012E-4	0.088
18	47406833	A	C	18	49880463	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00267174101218094	0.088
18	47406833	A	G	18	49880463	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.18309790186367E-4	0.004
18	47406833	A	T	18	49880463	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.29119723013616E-4	0.084
18	47406834	G	A	18	49880464	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.47600057701346E-4	0.014
18	47406834	G	C	18	49880464	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.66903616979666E-4	0.132
18	47406834	G	T	18	49880464	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00161482656887455	0.102
18	47406835	A	C	18	49880465	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00192226088525018	0.11
18	47406835	A	G	18	49880465	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.83992845075197E-5	0.0
18	47406835	A	T	18	49880465	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00191927503157277	0.166
18	47406836	G	A	18	49880466	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.27278800016004E-5	0.002
18	47406836	G	C	18	49880466	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.49726927575875E-4	0.014
18	47406836	G	T	18	49880466	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.67812229744512E-4	0.074
18	47406837	C	A	18	49880467	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.64363629684345E-4	0.0
18	47406837	C	G	18	49880467	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.19231589310049E-4	0.002
18	47406837	C	T	18	49880467	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.23073238691809E-5	0.016
18	47421303	G	A	18	49894933	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.91992150646169E-4	0.002
18	47421303	G	C	18	49894933	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.6638847274272E-5	0.0
18	47421303	G	T	18	49894933	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.81978458703957E-5	0.0
18	47421304	A	C	18	49894934	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.35734754731136E-6	0.008
18	47421304	A	G	18	49894934	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.35734754731136E-6	0.008
18	47421304	A	T	18	49894934	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.13624480544921E-5	0.004
18	47421305	G	A	18	49894935	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.15884529533419E-5	0.022
18	47421305	G	C	18	49894935	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.25151788725344E-5	0.024
18	47421305	G	T	18	49894935	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.21168873316759E-4	0.008
18	47421306	C	A	18	49894936	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999138262280854	0.85
18	47421306	C	G	18	49894936	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.982710311985328	0.628
18	47421306	C	T	18	49894936	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.918241466763367	0.638
18	47421307	A	C	18	49894937	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.55881403590658E-4	0.008
18	47421307	A	G	18	49894937	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.8891906352662E-5	0.002
18	47421307	A	T	18	49894937	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.24310741426082E-5	0.02
18	47421308	T	A	18	49894938	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997621773967266	0.716
18	47421308	T	C	18	49894938	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.643105580187836	0.556
18	47421308	T	G	18	49894938	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.995788528657223	0.682
18	47421309	A	C	18	49894939	y	y	splicing	MYO5B(NM_001080467:exon23:c.3045+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.3045+2T>G;ENST00000324581:exon3:c.468+2T>G;ENST00000592779:exon4:c.476+2T>G)	.	.	0.999939020951004	0.932
18	47421309	A	G	18	49894939	y	y	splicing	MYO5B(NM_001080467:exon23:c.3045+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.3045+2T>C;ENST00000324581:exon3:c.468+2T>C;ENST00000592779:exon4:c.476+2T>C)	.	.	0.958896979623775	0.59
18	47421309	A	T	18	49894939	y	y	splicing	MYO5B(NM_001080467:exon23:c.3045+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.3045+2T>A;ENST00000324581:exon3:c.468+2T>A;ENST00000592779:exon4:c.476+2T>A)	.	.	0.999939020951004	0.932
18	47421310	C	A	18	49894940	y	y	splicing	MYO5B(NM_001080467:exon23:c.3045+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.3045+1G>T;ENST00000324581:exon3:c.468+1G>T;ENST00000592779:exon4:c.476+1G>T)	.	.	0.999986675681007	0.934
18	47421310	C	G	18	49894940	y	y	splicing	MYO5B(NM_001080467:exon23:c.3045+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.3045+1G>C;ENST00000324581:exon3:c.468+1G>C;ENST00000592779:exon4:c.476+1G>C)	.	.	0.999986675681007	0.934
18	47421310	C	T	18	49894940	y	y	splicing	MYO5B(NM_001080467:exon23:c.3045+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.3045+1G>A;ENST00000324581:exon3:c.468+1G>A;ENST00000592779:exon4:c.476+1G>A)	.	.	0.999986675681007	0.934
18	47421311	C	A	18	49894941	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.G3045T:p.K1015N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.G3045T:p.K1015N;ENSG00000167306:ENST00000324581:exon2:c.G468T:p.K156N;	0.99991409622957	0.98
18	47421311	C	G	18	49894941	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.G3045C:p.K1015N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.G3045C:p.K1015N;ENSG00000167306:ENST00000324581:exon2:c.G468C:p.K156N;	0.99999001081997	0.996
18	47421311	C	T	18	49894941	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon22:c.G3045A:p.K1015K;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.G3045A:p.K1015K;ENSG00000167306:ENST00000324581:exon2:c.G468A:p.K156K;	0.999564592181712	0.934
18	47421312	T	A	18	49894942	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A3044T:p.K1015M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A3044T:p.K1015M;ENSG00000167306:ENST00000324581:exon2:c.A467T:p.K156M;	0.999800350814239	0.988
18	47421312	T	C	18	49894942	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A3044G:p.K1015R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A3044G:p.K1015R;ENSG00000167306:ENST00000324581:exon2:c.A467G:p.K156R;	0.995483045203943	0.916
18	47421312	T	G	18	49894942	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A3044C:p.K1015T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A3044C:p.K1015T;ENSG00000167306:ENST00000324581:exon2:c.A467C:p.K156T;	0.99170412537292	0.894
18	47421313	T	A	18	49894943	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon22:c.A3043T:p.K1015X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon22:c.A3043T:p.K1015X;ENSG00000167306:ENST00000324581:exon2:c.A466T:p.K156X;	0.813528329362924	0.542
18	47421313	T	C	18	49894943	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A3043G:p.K1015E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A3043G:p.K1015E;ENSG00000167306:ENST00000324581:exon2:c.A466G:p.K156E;	0.00756323304821522	0.17
18	47421313	T	G	18	49894943	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A3043C:p.K1015Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A3043C:p.K1015Q;ENSG00000167306:ENST00000324581:exon2:c.A466C:p.K156Q;	3.64759794603773E-5	0.008
18	47421543	T	A	18	49895173	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A2813T:p.N938I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A2813T:p.N938I;ENSG00000167306:ENST00000324581:exon2:c.A236T:p.N79I;	0.789524536817437	0.76
18	47421543	T	C	18	49895173	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A2813G:p.N938S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A2813G:p.N938S;ENSG00000167306:ENST00000324581:exon2:c.A236G:p.N79S;	0.0621943092080014	0.432
18	47421543	T	G	18	49895173	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A2813C:p.N938T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A2813C:p.N938T;ENSG00000167306:ENST00000324581:exon2:c.A236C:p.N79T;	0.862226260177016	0.75
18	47421544	T	A	18	49895174	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A2812T:p.N938Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A2812T:p.N938Y;ENSG00000167306:ENST00000324581:exon2:c.A235T:p.N79Y;	0.510934099631152	0.492
18	47421544	T	C	18	49895174	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A2812G:p.N938D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A2812G:p.N938D;ENSG00000167306:ENST00000324581:exon2:c.A235G:p.N79D;	0.657973121649373	0.616
18	47421544	T	G	18	49895174	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon22:c.A2812C:p.N938H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon22:c.A2812C:p.N938H;ENSG00000167306:ENST00000324581:exon2:c.A235C:p.N79H;	0.456121983582103	0.466
18	47421545	C	A	18	49895175	y	y	splicing	MYO5B(NM_001080467:exon23:c.2812-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.2812-1G>T;ENST00000324581:exon3:c.235-1G>T;ENST00000592779:exon4:c.243-1G>T)	.	.	0.999988247793601	0.928
18	47421545	C	G	18	49895175	y	y	splicing	MYO5B(NM_001080467:exon23:c.2812-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.2812-1G>C;ENST00000324581:exon3:c.235-1G>C;ENST00000592779:exon4:c.243-1G>C)	.	.	0.999988247793601	0.928
18	47421545	C	T	18	49895175	y	y	splicing	MYO5B(NM_001080467:exon23:c.2812-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.2812-1G>A;ENST00000324581:exon3:c.235-1G>A;ENST00000592779:exon4:c.243-1G>A)	.	.	0.999988247793601	0.928
18	47421546	T	A	18	49895176	y	y	splicing	MYO5B(NM_001080467:exon23:c.2812-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.2812-2A>T;ENST00000324581:exon3:c.235-2A>T;ENST00000592779:exon4:c.243-2A>T)	.	.	0.999992446697775	0.928
18	47421546	T	C	18	49895176	y	y	splicing	MYO5B(NM_001080467:exon23:c.2812-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.2812-2A>G;ENST00000324581:exon3:c.235-2A>G;ENST00000592779:exon4:c.243-2A>G)	.	.	0.999992446697775	0.928
18	47421546	T	G	18	49895176	y	y	splicing	MYO5B(NM_001080467:exon23:c.2812-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon23:c.2812-2A>C;ENST00000324581:exon3:c.235-2A>C;ENST00000592779:exon4:c.243-2A>C)	.	.	0.999992446697775	0.928
18	47421547	G	A	18	49895177	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.044322487219777	0.114
18	47421547	G	C	18	49895177	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999858061210463	0.98
18	47421547	G	T	18	49895177	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.995786385820354	0.926
18	47421548	T	A	18	49895178	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.92389689109379E-4	0.046
18	47421548	T	C	18	49895178	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.33294963454403E-4	0.12
18	47421548	T	G	18	49895178	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.57430091770433E-4	0.072
18	47421549	G	A	18	49895179	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.7623424427671E-4	0.01
18	47421549	G	C	18	49895179	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00906077467655668	0.108
18	47421549	G	T	18	49895179	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00537696004592541	0.024
18	47421550	G	A	18	49895180	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.03139352968152E-4	0.014
18	47421550	G	C	18	49895180	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0955185520164596	0.378
18	47421550	G	T	18	49895180	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0253426232424886	0.326
18	47421551	A	C	18	49895181	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.576296095316743	0.518
18	47421551	A	G	18	49895181	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.43082797610375E-4	0.004
18	47421551	A	T	18	49895181	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.797681461553171	0.58
18	47421552	G	A	18	49895182	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0102135872894496	0.06
18	47421552	G	C	18	49895182	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0163535729007884	0.168
18	47421552	G	T	18	49895182	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0262459529968779	0.204
18	47421553	A	C	18	49895183	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.831064337106667	0.564
18	47421553	A	G	18	49895183	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.33485963261516E-4	0.074
18	47421553	A	T	18	49895183	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.951471283303285	0.614
18	47421554	A	C	18	49895184	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.795108769402829	0.478
18	47421554	A	G	18	49895184	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.60611436798816E-5	0.064
18	47421554	A	T	18	49895184	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.865743353553279	0.508
18	47421555	C	A	18	49895185	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.44103198679539E-4	0.264
18	47421555	C	G	18	49895185	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.51911351760601E-5	0.248
18	47421555	C	T	18	49895185	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.32564158685807E-4	0.126
18	47421556	A	C	18	49895186	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999969170039543	0.916
18	47421556	A	G	18	49895186	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.14507059266929E-5	0.068
18	47421556	A	T	18	49895186	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999970298989164	0.934
18	47428956	A	C	18	49902586	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.21559618771502E-4	0.012
18	47428956	A	G	18	49902586	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.75832980649168E-5	0.0
18	47428956	A	T	18	49902586	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.22938780917963E-4	0.0
18	47428957	C	A	18	49902587	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.07553965897311E-4	0.004
18	47428957	C	G	18	49902587	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.33069379260715E-4	0.008
18	47428957	C	T	18	49902587	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.54836491256781E-4	0.008
18	47428958	A	C	18	49902588	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.027020353053417	0.28
18	47428958	A	G	18	49902588	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.370088476769471	0.448
18	47428958	A	T	18	49902588	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.100264325081551	0.374
18	47428959	C	A	18	49902589	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999629559654456	0.896
18	47428959	C	G	18	49902589	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999534812142576	0.816
18	47428959	C	T	18	49902589	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999800321443423	0.936
18	47428960	T	A	18	49902590	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.284262792156321	0.332
18	47428960	T	C	18	49902590	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.246890567585578	0.34
18	47428960	T	G	18	49902590	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.602681361454515	0.322
18	47428961	G	A	18	49902591	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.34013170798128E-4	0.042
18	47428961	G	C	18	49902591	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.42111305239833E-4	0.106
18	47428961	G	T	18	49902591	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.40076695296909E-4	0.108
18	47428962	A	C	18	49902592	y	y	splicing	MYO5B(NM_001080467:exon22:c.2811+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2811+2T>G;ENST00000324581:exon2:c.234+2T>G;ENST00000592779:exon3:c.242+2T>G)	.	.	0.999988247793601	0.916
18	47428962	A	G	18	49902592	y	y	splicing	MYO5B(NM_001080467:exon22:c.2811+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2811+2T>C;ENST00000324581:exon2:c.234+2T>C;ENST00000592779:exon3:c.242+2T>C)	.	.	0.99231226973403	0.706
18	47428962	A	T	18	49902592	y	y	splicing	MYO5B(NM_001080467:exon22:c.2811+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2811+2T>A;ENST00000324581:exon2:c.234+2T>A;ENST00000592779:exon3:c.242+2T>A)	.	.	0.999988247793601	0.904
18	47428963	C	A	18	49902593	y	y	splicing	MYO5B(NM_001080467:exon22:c.2811+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2811+1G>T;ENST00000324581:exon2:c.234+1G>T;ENST00000592779:exon3:c.242+1G>T)	.	.	0.999990361384395	0.926
18	47428963	C	G	18	49902593	y	y	splicing	MYO5B(NM_001080467:exon22:c.2811+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2811+1G>C;ENST00000324581:exon2:c.234+1G>C;ENST00000592779:exon3:c.242+1G>C)	.	.	0.999990361384395	0.926
18	47428963	C	T	18	49902593	y	y	splicing	MYO5B(NM_001080467:exon22:c.2811+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2811+1G>A;ENST00000324581:exon2:c.234+1G>A;ENST00000592779:exon3:c.242+1G>A)	.	.	0.999990361384395	0.928
18	47428964	C	A	18	49902594	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2811T:p.Q937H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.G2811T:p.Q937H;ENSG00000167306:ENST00000324581:exon1:c.G234T:p.Q78H;	0.999989241609015	1.0
18	47428964	C	G	18	49902594	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2811C:p.Q937H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.G2811C:p.Q937H;ENSG00000167306:ENST00000324581:exon1:c.G234C:p.Q78H;	0.999996975669247	1.0
18	47428964	C	T	18	49902594	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon21:c.G2811A:p.Q937Q;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.G2811A:p.Q937Q;ENSG00000167306:ENST00000324581:exon1:c.G234A:p.Q78Q;	0.999958315062768	0.984
18	47428965	T	A	18	49902595	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.A2810T:p.Q937L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.A2810T:p.Q937L;ENSG00000167306:ENST00000324581:exon1:c.A233T:p.Q78L;	0.999601675599413	0.998
18	47428965	T	C	18	49902595	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.A2810G:p.Q937R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.A2810G:p.Q937R;ENSG00000167306:ENST00000324581:exon1:c.A233G:p.Q78R;	0.9998089368348	1.0
18	47428965	T	G	18	49902595	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.A2810C:p.Q937P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.A2810C:p.Q937P;ENSG00000167306:ENST00000324581:exon1:c.A233C:p.Q78P;	0.999263899368259	0.992
18	47428966	G	A	18	49902596	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon21:c.C2809T:p.Q937X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon21:c.C2809T:p.Q937X;ENSG00000167306:ENST00000324581:exon1:c.C232T:p.Q78X;	0.999643823418589	0.902
18	47428966	G	C	18	49902596	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.C2809G:p.Q937E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.C2809G:p.Q937E;ENSG00000167306:ENST00000324581:exon1:c.C232G:p.Q78E;	0.942664893507001	0.664
18	47428966	G	T	18	49902596	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.C2809A:p.Q937K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.C2809A:p.Q937K;ENSG00000167306:ENST00000324581:exon1:c.C232A:p.Q78K;	0.925783483145195	0.814
18	47429202	A	C	18	49902832	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.T2573G:p.V858G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.T2573G:p.V858G;	0.386354066780367	0.5
18	47429202	A	G	18	49902832	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.T2573C:p.V858A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.T2573C:p.V858A;	0.636120204460962	0.482
18	47429202	A	T	18	49902832	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.T2573A:p.V858D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.T2573A:p.V858D;	0.516051163855183	0.502
18	47429203	C	A	18	49902833	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2572T:p.V858F;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.G2572T:p.V858F;	0.582945888266204	0.544
18	47429203	C	G	18	49902833	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2572C:p.V858L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.G2572C:p.V858L;	0.173283783982258	0.464
18	47429203	C	T	18	49902833	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2572A:p.V858I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon21:c.G2572A:p.V858I;	0.0269390335116418	0.368
18	47429204	C	A	18	49902834	y	y	splicing	MYO5B(NM_001080467:exon22:c.2572-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2572-1G>T;ENST00000592779:exon3:c.3-1G>T)	.	.	0.99995545544995	0.944
18	47429204	C	G	18	49902834	y	y	splicing	MYO5B(NM_001080467:exon22:c.2572-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2572-1G>C;ENST00000592779:exon3:c.3-1G>C)	.	.	0.99995545544995	0.948
18	47429204	C	T	18	49902834	y	y	splicing	MYO5B(NM_001080467:exon22:c.2572-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2572-1G>A;ENST00000592779:exon3:c.3-1G>A)	.	.	0.99995545544995	0.944
18	47429205	T	A	18	49902835	y	y	splicing	MYO5B(NM_001080467:exon22:c.2572-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2572-2A>T;ENST00000592779:exon3:c.3-2A>T)	.	.	0.999964896440643	0.934
18	47429205	T	C	18	49902835	y	y	splicing	MYO5B(NM_001080467:exon22:c.2572-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2572-2A>G;ENST00000592779:exon3:c.3-2A>G)	.	.	0.999951957019574	0.902
18	47429205	T	G	18	49902835	y	y	splicing	MYO5B(NM_001080467:exon22:c.2572-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon22:c.2572-2A>C;ENST00000592779:exon3:c.3-2A>C)	.	.	0.999951957019574	0.902
18	47429206	G	A	18	49902836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.07905885524281E-4	0.024
18	47429206	G	C	18	49902836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.98174821754295	0.78
18	47429206	G	T	18	49902836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.272548955561808	0.464
18	47429207	G	A	18	49902837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.23878661731034E-5	0.002
18	47429207	G	C	18	49902837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.84006345254837E-5	0.02
18	47429207	G	T	18	49902837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.07507358003149E-5	0.008
18	47429208	C	A	18	49902838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.42648700143617E-5	0.002
18	47429208	C	G	18	49902838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.60628011945919E-6	0.0
18	47429208	C	T	18	49902838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.35225486126351E-5	0.006
18	47429209	G	A	18	49902839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.58784996501411E-5	0.004
18	47429209	G	C	18	49902839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.98290556130021E-4	0.096
18	47429209	G	T	18	49902839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.594506694047161	0.708
18	47429210	G	A	18	49902840	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.13511596985299E-4	0.034
18	47429210	G	C	18	49902840	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00674680072227215	0.184
18	47429210	G	T	18	49902840	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00934429101715518	0.188
18	47429211	G	A	18	49902841	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.88518736435999E-5	0.0
18	47429211	G	C	18	49902841	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.40042300797627E-4	0.056
18	47429211	G	T	18	49902841	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.01663581364867E-4	0.154
18	47429212	A	C	18	49902842	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00296482353708031	0.088
18	47429212	A	G	18	49902842	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.39094927710334E-5	0.0
18	47429212	A	T	18	49902842	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0430573276037997	0.2
18	47429213	A	C	18	49902843	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00277160941793669	0.148
18	47429213	A	G	18	49902843	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.25972949460634E-5	0.0
18	47429213	A	T	18	49902843	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0092490209734797	0.122
18	47429214	A	C	18	49902844	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0544463168457849	0.356
18	47429214	A	G	18	49902844	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.80252412150047E-4	0.074
18	47429214	A	T	18	49902844	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0544463168457849	0.304
18	47429215	C	A	18	49902845	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.70295140574797E-4	0.002
18	47429215	C	G	18	49902845	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.95840462402652E-4	0.006
18	47429215	C	T	18	49902845	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.34613753190768E-4	0.076
18	47431034	C	A	18	49904664	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.70474572935874E-4	0.002
18	47431034	C	G	18	49904664	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.70474572935874E-4	0.0
18	47431034	C	T	18	49904664	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.23670744562471E-4	0.0
18	47431035	T	A	18	49904665	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.03152680905864E-5	0.0
18	47431035	T	C	18	49904665	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.96260731590036E-5	0.0
18	47431035	T	G	18	49904665	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.91864902820758E-5	0.0
18	47431036	A	C	18	49904666	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.53973156208154E-4	0.024
18	47431036	A	G	18	49904666	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00176425662424096	0.046
18	47431036	A	T	18	49904666	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00102377336805955	0.024
18	47431037	C	A	18	49904667	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.9948713024119	0.888
18	47431037	C	G	18	49904667	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.986817475268464	0.912
18	47431037	C	T	18	49904667	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.975739764297628	0.868
18	47431038	T	A	18	49904668	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.146190329793109	0.26
18	47431038	T	C	18	49904668	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0981445158941492	0.322
18	47431038	T	G	18	49904668	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0219913431001273	0.254
18	47431039	C	A	18	49904669	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00352366056887518	0.324
18	47431039	C	G	18	49904669	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00449851245314145	0.356
18	47431039	C	T	18	49904669	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.69595293648355E-5	0.006
18	47431040	A	C	18	49904670	y	y	splicing	MYO5B(NM_001080467:exon21:c.2571+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2571+2T>G;ENST00000592779:exon2:c.2+2T>G)	.	.	0.999989917668626	0.92
18	47431040	A	G	18	49904670	y	y	splicing	MYO5B(NM_001080467:exon21:c.2571+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2571+2T>C;ENST00000592779:exon2:c.2+2T>C)	.	.	0.999939711763648	0.85
18	47431040	A	T	18	49904670	y	y	splicing	MYO5B(NM_001080467:exon21:c.2571+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2571+2T>A;ENST00000592779:exon2:c.2+2T>A)	.	.	0.999989917668626	0.926
18	47431041	C	A	18	49904671	y	y	splicing	MYO5B(NM_001080467:exon21:c.2571+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2571+1G>T;ENST00000592779:exon2:c.2+1G>T)	.	.	0.999981760802075	0.942
18	47431041	C	G	18	49904671	y	y	splicing	MYO5B(NM_001080467:exon21:c.2571+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2571+1G>C;ENST00000592779:exon2:c.2+1G>C)	.	.	0.999981760802075	0.942
18	47431041	C	T	18	49904671	y	y	splicing	MYO5B(NM_001080467:exon21:c.2571+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2571+1G>A;ENST00000592779:exon2:c.2+1G>A)	.	.	0.999981760802075	0.942
18	47431042	C	A	18	49904672	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.G2571T:p.Q857H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.G2571T:p.Q857H;	0.998724515279878	0.926
18	47431042	C	G	18	49904672	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.G2571C:p.Q857H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.G2571C:p.Q857H;	0.999668043211478	0.956
18	47431042	C	T	18	49904672	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon20:c.G2571A:p.Q857Q;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.G2571A:p.Q857Q;	0.582273760339781	0.53
18	47431043	T	A	18	49904673	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.A2570T:p.Q857L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.A2570T:p.Q857L;	0.992694844862933	0.834
18	47431043	T	C	18	49904673	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.A2570G:p.Q857R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.A2570G:p.Q857R;	0.788513068257083	0.75
18	47431043	T	G	18	49904673	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.A2570C:p.Q857P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.A2570C:p.Q857P;	0.833105612252751	0.766
18	47431044	G	A	18	49904674	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon20:c.C2569T:p.Q857X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon20:c.C2569T:p.Q857X;	0.994782015412709	0.748
18	47431044	G	C	18	49904674	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.C2569G:p.Q857E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.C2569G:p.Q857E;	0.00350063530920186	0.108
18	47431044	G	T	18	49904674	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.C2569A:p.Q857K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.C2569A:p.Q857K;	5.83081352471648E-4	0.096
18	47431197	G	A	18	49904827	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon20:c.C2416T:p.L806L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.C2416T:p.L806L;	3.53197846731138E-4	0.026
18	47431197	G	C	18	49904827	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.C2416G:p.L806V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.C2416G:p.L806V;	6.00403967735933E-4	0.032
18	47431197	G	T	18	49904827	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.C2416A:p.L806M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.C2416A:p.L806M;	4.80716260101734E-4	0.01
18	47431198	C	A	18	49904828	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.G2415T:p.R805S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.G2415T:p.R805S;	0.497294681466267	0.48
18	47431198	C	G	18	49904828	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon20:c.G2415C:p.R805S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.G2415C:p.R805S;	0.180755617612951	0.356
18	47431198	C	T	18	49904828	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon20:c.G2415A:p.R805R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon20:c.G2415A:p.R805R;	5.40606537521018E-4	0.074
18	47431199	C	A	18	49904829	y	y	splicing	MYO5B(NM_001080467:exon21:c.2415-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2415-1G>T)	.	.	0.999981760802075	0.938
18	47431199	C	G	18	49904829	y	y	splicing	MYO5B(NM_001080467:exon21:c.2415-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2415-1G>C)	.	.	0.999981760802075	0.938
18	47431199	C	T	18	49904829	y	y	splicing	MYO5B(NM_001080467:exon21:c.2415-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2415-1G>A)	.	.	0.999981760802075	0.938
18	47431200	T	A	18	49904830	y	y	splicing	MYO5B(NM_001080467:exon21:c.2415-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2415-2A>T)	.	.	0.999989917668626	0.928
18	47431200	T	C	18	49904830	y	y	splicing	MYO5B(NM_001080467:exon21:c.2415-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2415-2A>G)	.	.	0.999989917668626	0.928
18	47431200	T	G	18	49904830	y	y	splicing	MYO5B(NM_001080467:exon21:c.2415-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon21:c.2415-2A>C)	.	.	0.999989917668626	0.928
18	47431201	G	A	18	49904831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.107388296221188	0.22
18	47431201	G	C	18	49904831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.988151263821312	0.924
18	47431201	G	T	18	49904831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.866374787254681	0.498
18	47431202	G	A	18	49904832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.34412185859186E-5	0.002
18	47431202	G	C	18	49904832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.32106072009766E-5	0.002
18	47431202	G	T	18	49904832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.22184628599212E-5	0.002
18	47431203	G	A	18	49904833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.55977506137348E-5	0.0
18	47431203	G	C	18	49904833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00104541818002646	0.092
18	47431203	G	T	18	49904833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.53515467881725E-4	0.03
18	47431204	G	A	18	49904834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.31484880461222E-5	0.004
18	47431204	G	C	18	49904834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00542069485113043	0.158
18	47431204	G	T	18	49904834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00181781447825836	0.156
18	47431205	A	C	18	49904835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00237519802183738	0.168
18	47431205	A	G	18	49904835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.26271818837823E-4	0.032
18	47431205	A	T	18	49904835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00260540107247217	0.158
18	47431206	G	A	18	49904836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.06673117549559E-5	0.012
18	47431206	G	C	18	49904836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.81191956705736E-4	0.056
18	47431206	G	T	18	49904836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00145608851577218	0.084
18	47431207	C	A	18	49904837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.05657561405025E-4	0.014
18	47431207	C	G	18	49904837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.14541739755518E-4	0.004
18	47431207	C	T	18	49904837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.71835265601092E-4	0.042
18	47431208	A	C	18	49904838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.75252177500337E-4	0.068
18	47431208	A	G	18	49904838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.51637943049922E-5	0.004
18	47431208	A	T	18	49904838	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999081307996675	0.962
18	47431209	A	C	18	49904839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.48212365983971E-4	0.154
18	47431209	A	G	18	49904839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.01110932577906E-4	0.07
18	47431209	A	T	18	49904839	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00146621210513746	0.192
18	47431210	G	A	18	49904840	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.95038003751773E-5	0.004
18	47431210	G	C	18	49904840	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.73618435307828E-4	0.016
18	47431210	G	T	18	49904840	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.25692659709182E-4	0.044
18	47432781	T	A	18	49906411	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.5876429951782E-5	0.0
18	47432781	T	C	18	49906411	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.5876429951782E-5	0.036
18	47432781	T	G	18	49906411	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.43375982267094E-5	0.002
18	47432782	G	A	18	49906412	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.001365220049465	0.094
18	47432782	G	C	18	49906412	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.79597580764731E-4	0.088
18	47432782	G	T	18	49906412	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.93175990183719E-4	0.076
18	47432783	G	A	18	49906413	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.17543577107129E-4	0.004
18	47432783	G	C	18	49906413	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00100624800306638	0.036
18	47432783	G	T	18	49906413	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.71830197957624E-4	0.034
18	47432784	C	A	18	49906414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999520773186065	0.906
18	47432784	C	G	18	49906414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.991649085951424	0.796
18	47432784	C	T	18	49906414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999734037637918	0.938
18	47432785	T	A	18	49906415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.976135793847105	0.672
18	47432785	T	C	18	49906415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.76097843387701	0.566
18	47432785	T	G	18	49906415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.866561709668555	0.564
18	47432786	C	A	18	49906416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.833481840731153	0.57
18	47432786	C	G	18	49906416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0795685852619735	0.478
18	47432786	C	T	18	49906416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.87745328659855E-5	0.0
18	47432787	A	C	18	49906417	y	y	splicing	MYO5B(NM_001080467:exon20:c.2414+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2414+2T>G)	.	.	0.999988247793601	0.928
18	47432787	A	G	18	49906417	y	y	splicing	MYO5B(NM_001080467:exon20:c.2414+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2414+2T>C)	.	.	0.99991520749976	0.868
18	47432787	A	T	18	49906417	y	y	splicing	MYO5B(NM_001080467:exon20:c.2414+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2414+2T>A)	.	.	0.999988247793601	0.93
18	47432788	C	A	18	49906418	y	y	splicing	MYO5B(NM_001080467:exon20:c.2414+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2414+1G>T)	.	.	0.999993148181228	0.93
18	47432788	C	G	18	49906418	y	y	splicing	MYO5B(NM_001080467:exon20:c.2414+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2414+1G>C)	.	.	0.999993148181228	0.93
18	47432788	C	T	18	49906418	y	y	splicing	MYO5B(NM_001080467:exon20:c.2414+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2414+1G>A)	.	.	0.999993148181228	0.93
18	47432789	C	A	18	49906419	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2414T:p.R805M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.G2414T:p.R805M;	0.999954083216222	0.996
18	47432789	C	G	18	49906419	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2414C:p.R805T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.G2414C:p.R805T;	0.999988224883939	0.96
18	47432789	C	T	18	49906419	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2414A:p.R805K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.G2414A:p.R805K;	0.900312026352143	0.91
18	47432790	T	A	18	49906420	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.A2413T:p.R805W;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.A2413T:p.R805W;	0.988123926471317	0.784
18	47432790	T	C	18	49906420	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.A2413G:p.R805G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.A2413G:p.R805G;	0.994147426404529	0.802
18	47432790	T	G	18	49906420	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon19:c.A2413C:p.R805R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.A2413C:p.R805R;	0.333169670666485	0.52
18	47432791	G	A	18	49906421	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon19:c.C2412T:p.R804R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.C2412T:p.R804R;	0.286341482276216	0.312
18	47432791	G	C	18	49906421	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon19:c.C2412G:p.R804R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.C2412G:p.R804R;	0.00462504206741906	0.082
18	47432791	G	T	18	49906421	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon19:c.C2412A:p.R804R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.C2412A:p.R804R;	0.00644174733985616	0.096
18	47432999	T	A	18	49906629	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.A2204T:p.D735V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.A2204T:p.D735V;	0.887248749505485	0.762
18	47432999	T	C	18	49906629	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.A2204G:p.D735G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.A2204G:p.D735G;	0.91844594053699	0.686
18	47432999	T	G	18	49906629	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.A2204C:p.D735A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.A2204C:p.D735A;	0.960051734930646	0.8
18	47433000	C	A	18	49906630	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2203T:p.D735Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.G2203T:p.D735Y;	0.99997122804486	0.99
18	47433000	C	G	18	49906630	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2203C:p.D735H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.G2203C:p.D735H;	0.999911458114506	0.982
18	47433000	C	T	18	49906630	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2203A:p.D735N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon19:c.G2203A:p.D735N;	0.999943761191234	0.944
18	47433001	C	A	18	49906631	y	y	splicing	MYO5B(NM_001080467:exon20:c.2203-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2203-1G>T)	.	.	0.999985473584763	0.952
18	47433001	C	G	18	49906631	y	y	splicing	MYO5B(NM_001080467:exon20:c.2203-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2203-1G>C)	.	.	0.999985473584763	0.952
18	47433001	C	T	18	49906631	y	y	splicing	MYO5B(NM_001080467:exon20:c.2203-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2203-1G>A)	.	.	0.999985473584763	0.952
18	47433002	T	A	18	49906632	y	y	splicing	MYO5B(NM_001080467:exon20:c.2203-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2203-2A>T)	.	.	0.999986741007567	0.938
18	47433002	T	C	18	49906632	y	y	splicing	MYO5B(NM_001080467:exon20:c.2203-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2203-2A>G)	.	.	0.999986741007567	0.938
18	47433002	T	G	18	49906632	y	y	splicing	MYO5B(NM_001080467:exon20:c.2203-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon20:c.2203-2A>C)	.	.	0.999986741007567	0.938
18	47433003	T	A	18	49906633	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.46233410602402E-4	0.014
18	47433003	T	C	18	49906633	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.671598376660454	0.47
18	47433003	T	G	18	49906633	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.19193807854614E-4	0.11
18	47433004	T	A	18	49906634	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.38420712343557E-4	0.02
18	47433004	T	C	18	49906634	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.87275053952681E-4	0.102
18	47433004	T	G	18	49906634	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.1839795434958E-4	0.048
18	47433005	A	C	18	49906635	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.955518363931995	0.58
18	47433005	A	G	18	49906635	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.010310409637874	0.206
18	47433005	A	T	18	49906635	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.354559018284286	0.514
18	47433006	C	A	18	49906636	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.22964027056427E-5	0.0
18	47433006	C	G	18	49906636	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.41019237500187E-5	0.01
18	47433006	C	T	18	49906636	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.70285699432017E-5	0.058
18	47433007	A	C	18	49906637	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.43327386318787	0.44
18	47433007	A	G	18	49906637	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.74431988778548E-4	0.046
18	47433007	A	T	18	49906637	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999919400946258	0.932
18	47433008	A	C	18	49906638	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00134818223782739	0.148
18	47433008	A	G	18	49906638	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.45736022854544E-5	0.0
18	47433008	A	T	18	49906638	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00560687097855533	0.16
18	47433009	G	A	18	49906639	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.33225786675432E-4	0.068
18	47433009	G	C	18	49906639	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.269441424614237	0.184
18	47433009	G	T	18	49906639	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00630315112980882	0.126
18	47433010	G	A	18	49906640	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.50645431001956E-5	0.002
18	47433010	G	C	18	49906640	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99989160992083	0.974
18	47433010	G	T	18	49906640	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00621117720586754	0.118
18	47433011	T	A	18	49906641	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.92961492231436E-4	0.052
18	47433011	T	C	18	49906641	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.62563811423225E-5	0.002
18	47433011	T	G	18	49906641	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.4401601094903E-4	0.0
18	47433012	A	C	18	49906642	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00882490912303699	0.368
18	47433012	A	G	18	49906642	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.64491557235165E-4	0.138
18	47433012	A	T	18	49906642	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.137029647764079	0.56
18	47438424	T	A	18	49912054	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.74586225159984E-5	0.0
18	47438424	T	C	18	49912054	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.74586225159984E-5	0.0
18	47438424	T	G	18	49912054	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.99153316237132E-5	0.0
18	47438425	G	A	18	49912055	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.50896685644909E-5	0.004
18	47438425	G	C	18	49912055	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.50896685644909E-5	0.004
18	47438425	G	T	18	49912055	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.15020457490687E-5	0.002
18	47438426	G	A	18	49912056	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.40028861715831E-5	0.004
18	47438426	G	C	18	49912056	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.13278460167257E-5	0.046
18	47438426	G	T	18	49912056	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.58588313747195E-4	0.016
18	47438427	C	A	18	49912057	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998646083202713	0.9
18	47438427	C	G	18	49912057	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.91570736665153	0.664
18	47438427	C	T	18	49912057	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997337177493515	0.894
18	47438428	T	A	18	49912058	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.563059697146506	0.528
18	47438428	T	C	18	49912058	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.230799269422682	0.424
18	47438428	T	G	18	49912058	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.142563747936837	0.412
18	47438429	C	A	18	49912059	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.795919124849573	0.534
18	47438429	C	G	18	49912059	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.544104567513154	0.454
18	47438429	C	T	18	49912059	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.64721053416015E-4	0.026
18	47438430	A	C	18	49912060	y	y	splicing	MYO5B(NM_001080467:exon19:c.2202+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2202+2T>G)	.	.	0.99994568797423	0.928
18	47438430	A	G	18	49912060	y	y	splicing	MYO5B(NM_001080467:exon19:c.2202+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2202+2T>C)	.	.	0.999509554936914	0.88
18	47438430	A	T	18	49912060	y	y	splicing	MYO5B(NM_001080467:exon19:c.2202+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2202+2T>A)	.	.	0.99994568797423	0.926
18	47438431	C	A	18	49912061	y	y	splicing	MYO5B(NM_001080467:exon19:c.2202+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2202+1G>T)	.	.	0.99994568797423	0.92
18	47438431	C	G	18	49912061	y	y	splicing	MYO5B(NM_001080467:exon19:c.2202+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2202+1G>C)	.	.	0.99994568797423	0.922
18	47438431	C	T	18	49912061	y	y	splicing	MYO5B(NM_001080467:exon19:c.2202+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2202+1G>A)	.	.	0.999970661931818	0.92
18	47438432	C	A	18	49912062	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.G2202T:p.K734N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.G2202T:p.K734N;	0.999050089613888	0.878
18	47438432	C	G	18	49912062	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.G2202C:p.K734N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.G2202C:p.K734N;	0.999289036497867	0.842
18	47438432	C	T	18	49912062	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon18:c.G2202A:p.K734K;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.G2202A:p.K734K;	0.974152311146433	0.846
18	47438433	T	A	18	49912063	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.A2201T:p.K734M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.A2201T:p.K734M;	0.334491764687321	0.602
18	47438433	T	C	18	49912063	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.A2201G:p.K734R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.A2201G:p.K734R;	0.0952711845856875	0.356
18	47438433	T	G	18	49912063	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.A2201C:p.K734T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.A2201C:p.K734T;	0.0638528376909291	0.406
18	47438434	T	A	18	49912064	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon18:c.A2200T:p.K734X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon18:c.A2200T:p.K734X;	0.930460277836844	0.64
18	47438434	T	C	18	49912064	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.A2200G:p.K734E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.A2200G:p.K734E;	0.0013176787388964	0.074
18	47438434	T	G	18	49912064	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.A2200C:p.K734Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.A2200C:p.K734Q;	5.39983677347752E-4	0.014
18	47438542	A	C	18	49912172	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.T2092G:p.W698G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.T2092G:p.W698G;	0.142816617521979	0.51
18	47438542	A	G	18	49912172	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.T2092C:p.W698R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.T2092C:p.W698R;	0.156804581374635	0.442
18	47438542	A	T	18	49912172	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.T2092A:p.W698R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.T2092A:p.W698R;	0.150456387540867	0.494
18	47438543	C	A	18	49912173	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.G2091T:p.R697S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.G2091T:p.R697S;	0.98518723892292	0.656
18	47438543	C	G	18	49912173	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon18:c.G2091C:p.R697S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.G2091C:p.R697S;	0.77288765464451	0.514
18	47438543	C	T	18	49912173	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon18:c.G2091A:p.R697R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon18:c.G2091A:p.R697R;	0.00585280763921969	0.182
18	47438544	C	A	18	49912174	y	y	splicing	MYO5B(NM_001080467:exon19:c.2091-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2091-1G>T)	.	.	0.999986675681007	0.934
18	47438544	C	G	18	49912174	y	y	splicing	MYO5B(NM_001080467:exon19:c.2091-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2091-1G>C)	.	.	0.999986675681007	0.934
18	47438544	C	T	18	49912174	y	y	splicing	MYO5B(NM_001080467:exon19:c.2091-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2091-1G>A)	.	.	0.999986675681007	0.934
18	47438545	T	A	18	49912175	y	y	splicing	MYO5B(NM_001080467:exon19:c.2091-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2091-2A>T)	.	.	0.999988247793601	0.928
18	47438545	T	C	18	49912175	y	y	splicing	MYO5B(NM_001080467:exon19:c.2091-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2091-2A>G)	.	.	0.999988247793601	0.928
18	47438545	T	G	18	49912175	y	y	splicing	MYO5B(NM_001080467:exon19:c.2091-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon19:c.2091-2A>C)	.	.	0.999988247793601	0.928
18	47438546	G	A	18	49912176	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.324191144227638	0.19
18	47438546	G	C	18	49912176	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998319938415616	0.842
18	47438546	G	T	18	49912176	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.98377864399402	0.666
18	47438547	G	A	18	49912177	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.99685514955505E-5	0.012
18	47438547	G	C	18	49912177	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.12713344985234E-5	0.008
18	47438547	G	T	18	49912177	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.94750335557707E-5	0.016
18	47438548	A	C	18	49912178	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00216722059324335	0.202
18	47438548	A	G	18	49912178	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.14163952543971E-4	0.018
18	47438548	A	T	18	49912178	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00409772434943624	0.22
18	47438549	G	A	18	49912179	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.17141073369964E-5	0.008
18	47438549	G	C	18	49912179	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00276916374593629	0.152
18	47438549	G	T	18	49912179	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.36875812201486E-4	0.126
18	47438550	G	A	18	49912180	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.75658749464995E-4	0.004
18	47438550	G	C	18	49912180	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00256261582689805	0.104
18	47438550	G	T	18	49912180	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00458214086397289	0.246
18	47438551	G	A	18	49912181	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.24780222528509E-4	0.018
18	47438551	G	C	18	49912181	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00298178174429194	0.068
18	47438551	G	T	18	49912181	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0212012917005234	0.064
18	47438552	A	C	18	49912182	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.91161836976266E-4	0.152
18	47438552	A	G	18	49912182	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.49909104708587E-4	0.074
18	47438552	A	T	18	49912182	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00271774021817664	0.246
18	47438553	A	C	18	49912183	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.60969643402296E-5	0.144
18	47438553	A	G	18	49912183	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.48725246311412E-6	0.032
18	47438553	A	T	18	49912183	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.42868806259538E-5	0.134
18	47438554	A	C	18	49912184	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.7784445087656E-4	0.176
18	47438554	A	G	18	49912184	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.15900653731643E-4	0.104
18	47438554	A	T	18	49912184	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.01178977291774E-4	0.196
18	47438555	G	A	18	49912185	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00462310725759957	0.318
18	47438555	G	C	18	49912185	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0027529655337216	0.074
18	47438555	G	T	18	49912185	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00811325396034658	0.12
18	47455874	T	A	18	49929504	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.13847195961614E-5	0.004
18	47455874	T	C	18	49929504	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.55943830631924E-5	0.006
18	47455874	T	G	18	49929504	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.89514103339754E-5	0.004
18	47455875	T	A	18	49929505	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.32783816779342E-4	0.006
18	47455875	T	C	18	49929505	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.49778480277866E-4	0.004
18	47455875	T	G	18	49929505	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.42875483465335E-5	0.004
18	47455876	A	C	18	49929506	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.80477351435323E-4	0.104
18	47455876	A	G	18	49929506	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00137787538004586	0.13
18	47455876	A	T	18	49929506	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.46032726308314E-4	0.126
18	47455877	G	A	18	49929507	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.9725310256806E-5	0.002
18	47455877	G	C	18	49929507	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.16484458407495E-5	0.006
18	47455877	G	T	18	49929507	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.14237737193799E-5	0.012
18	47455878	T	A	18	49929508	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.461838354001872	0.424
18	47455878	T	C	18	49929508	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.75918473086958	0.598
18	47455878	T	G	18	49929508	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.610916296670011	0.404
18	47455879	T	A	18	49929509	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999903848377322	0.902
18	47455879	T	C	18	49929509	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.992811926987631	0.842
18	47455879	T	G	18	49929509	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999684471136819	0.968
18	47455880	A	C	18	49929510	y	y	splicing	MYO5B(NM_001080467:exon18:c.2090+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2090+2T>G)	.	.	0.999988247793601	0.932
18	47455880	A	G	18	49929510	y	y	splicing	MYO5B(NM_001080467:exon18:c.2090+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2090+2T>C)	.	.	0.993826129542482	0.684
18	47455880	A	T	18	49929510	y	y	splicing	MYO5B(NM_001080467:exon18:c.2090+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2090+2T>A)	.	.	0.999988247793601	0.932
18	47455881	C	A	18	49929511	y	y	splicing	MYO5B(NM_001080467:exon18:c.2090+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2090+1G>T)	.	.	0.999989072007339	0.934
18	47455881	C	G	18	49929511	y	y	splicing	MYO5B(NM_001080467:exon18:c.2090+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2090+1G>C)	.	.	0.999989072007339	0.934
18	47455881	C	T	18	49929511	y	y	splicing	MYO5B(NM_001080467:exon18:c.2090+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2090+1G>A)	.	.	0.999989072007339	0.934
18	47455882	C	A	18	49929512	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.G2090T:p.R697M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.G2090T:p.R697M;	0.999965032574781	0.958
18	47455882	C	G	18	49929512	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.G2090C:p.R697T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.G2090C:p.R697T;	0.999992992826841	0.998
18	47455882	C	T	18	49929512	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.G2090A:p.R697K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.G2090A:p.R697K;	0.999988421950818	0.998
18	47455883	T	A	18	49929513	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.A2089T:p.R697W;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.A2089T:p.R697W;	0.99967567964205	0.988
18	47455883	T	C	18	49929513	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.A2089G:p.R697G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.A2089G:p.R697G;	0.999222989565264	0.954
18	47455883	T	G	18	49929513	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon17:c.A2089C:p.R697R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.A2089C:p.R697R;	0.99186459173682	0.91
18	47455884	G	A	18	49929514	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon17:c.C2088T:p.S696S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.C2088T:p.S696S;	0.989400752263303	0.838
18	47455884	G	C	18	49929514	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon17:c.C2088G:p.S696S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.C2088G:p.S696S;	0.0847775328793658	0.264
18	47455884	G	T	18	49929514	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon17:c.C2088A:p.S696S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.C2088A:p.S696S;	0.526521726313772	0.418
18	47455967	A	C	18	49929597	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.T2005G:p.F669V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.T2005G:p.F669V;	0.358915542498513	0.496
18	47455967	A	G	18	49929597	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.T2005C:p.F669L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.T2005C:p.F669L;	0.37550401448258	0.522
18	47455967	A	T	18	49929597	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.T2005A:p.F669I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.T2005A:p.F669I;	0.327628930274774	0.522
18	47455968	G	A	18	49929598	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon17:c.C2004T:p.H668H;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.C2004T:p.H668H;	0.00351364044076357	0.108
18	47455968	G	C	18	49929598	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.C2004G:p.H668Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.C2004G:p.H668Q;	2.91967616673903E-4	0.13
18	47455968	G	T	18	49929598	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon17:c.C2004A:p.H668Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon17:c.C2004A:p.H668Q;	3.52202655799197E-4	0.006
18	47455969	C	A	18	49929599	y	y	splicing	MYO5B(NM_001080467:exon18:c.2004-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2004-1G>T)	.	.	0.999989072007339	0.934
18	47455969	C	G	18	49929599	y	y	splicing	MYO5B(NM_001080467:exon18:c.2004-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2004-1G>C)	.	.	0.999989072007339	0.934
18	47455969	C	T	18	49929599	y	y	splicing	MYO5B(NM_001080467:exon18:c.2004-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2004-1G>A)	.	.	0.999989072007339	0.934
18	47455970	T	A	18	49929600	y	y	splicing	MYO5B(NM_001080467:exon18:c.2004-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2004-2A>T)	.	.	0.999988247793601	0.932
18	47455970	T	C	18	49929600	y	y	splicing	MYO5B(NM_001080467:exon18:c.2004-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2004-2A>G)	.	.	0.999988247793601	0.932
18	47455970	T	G	18	49929600	y	y	splicing	MYO5B(NM_001080467:exon18:c.2004-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon18:c.2004-2A>C)	.	.	0.999988247793601	0.932
18	47455971	G	A	18	49929601	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0861857024839426	0.236
18	47455971	G	C	18	49929601	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999881440193094	0.962
18	47455971	G	T	18	49929601	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.980087878341712	0.824
18	47455972	C	A	18	49929602	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.68436797385126E-4	0.03
18	47455972	C	G	18	49929602	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.27371972266195E-5	0.004
18	47455972	C	T	18	49929602	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.06486561287271E-4	0.008
18	47455973	C	A	18	49929603	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.03547892081916E-5	0.014
18	47455973	C	G	18	49929603	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.04645536155809E-5	0.0
18	47455973	C	T	18	49929603	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.476367387486597	0.588
18	47455974	A	C	18	49929604	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.17414810272222E-4	0.108
18	47455974	A	G	18	49929604	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.00507732751721E-5	0.01
18	47455974	A	T	18	49929604	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999798391624432	0.952
18	47455975	A	C	18	49929605	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.66177985221478E-4	0.052
18	47455975	A	G	18	49929605	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.16722159354837E-4	0.01
18	47455975	A	T	18	49929605	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.62204306976072E-4	0.088
18	47455976	A	C	18	49929606	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.69000372254568E-5	0.03
18	47455976	A	G	18	49929606	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.89675876548265E-5	0.0
18	47455976	A	T	18	49929606	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.26137656624171E-4	0.016
18	47455977	G	A	18	49929607	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.97079995092239E-5	0.0
18	47455977	G	C	18	49929607	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.53793323146759E-4	0.024
18	47455977	G	T	18	49929607	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.77700187663481E-4	0.02
18	47455978	G	A	18	49929608	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.97079995092239E-5	0.0
18	47455978	G	C	18	49929608	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.12135247255251E-4	0.026
18	47455978	G	T	18	49929608	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.1330743891186E-4	0.032
18	47455979	A	C	18	49929609	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00124085007225691	0.098
18	47455979	A	G	18	49929609	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.42074661770081E-4	0.016
18	47455979	A	T	18	49929609	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0067129396086017	0.212
18	47455980	G	A	18	49929610	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.27195606228375E-5	0.0
18	47455980	G	C	18	49929610	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.49253815873994E-4	0.016
18	47455980	G	T	18	49929610	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.55033517197291E-4	0.006
18	47462614	G	A	18	49936244	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.29742067907464E-5	0.0
18	47462614	G	C	18	49936244	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.90929852779193E-5	0.0
18	47462614	G	T	18	49936244	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.23227786770975E-4	0.0
18	47462615	C	A	18	49936245	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.94055286002621E-4	0.024
18	47462615	C	G	18	49936245	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.71034676824517E-4	0.008
18	47462615	C	T	18	49936245	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.45533668610637E-4	0.01
18	47462616	A	C	18	49936246	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.9873830141565	0.896
18	47462616	A	G	18	49936246	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.989901284223923	0.824
18	47462616	A	T	18	49936246	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.977057106968885	0.686
18	47462617	C	A	18	49936247	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999956153405628	0.946
18	47462617	C	G	18	49936247	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999968543938335	0.99
18	47462617	C	T	18	49936247	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999986646903141	0.988
18	47462618	T	A	18	49936248	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999665780502235	0.904
18	47462618	T	C	18	49936248	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999066526131988	0.98
18	47462618	T	G	18	49936248	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999687386046326	0.916
18	47462619	T	A	18	49936249	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999896085480328	0.892
18	47462619	T	C	18	49936249	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.011264449047936	0.23
18	47462619	T	G	18	49936249	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999861654123659	0.88
18	47462620	A	C	18	49936250	y	y	splicing	MYO5B(NM_001080467:exon17:c.2003+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.2003+2T>G)	.	.	0.999988247793601	0.928
18	47462620	A	G	18	49936250	y	y	splicing	MYO5B(NM_001080467:exon17:c.2003+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.2003+2T>C)	.	.	0.998693461719577	0.838
18	47462620	A	T	18	49936250	y	y	splicing	MYO5B(NM_001080467:exon17:c.2003+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.2003+2T>A)	.	.	0.999988247793601	0.928
18	47462621	C	A	18	49936251	y	y	splicing	MYO5B(NM_001080467:exon17:c.2003+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.2003+1G>T)	.	.	0.999986675681007	0.928
18	47462621	C	G	18	49936251	y	y	splicing	MYO5B(NM_001080467:exon17:c.2003+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.2003+1G>C)	.	.	0.999986675681007	0.928
18	47462621	C	T	18	49936251	y	y	splicing	MYO5B(NM_001080467:exon17:c.2003+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.2003+1G>A)	.	.	0.999986675681007	0.928
18	47462622	T	A	18	49936252	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.A2003T:p.H668L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.A2003T:p.H668L;	3.89841531563584E-4	0.046
18	47462622	T	C	18	49936252	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.A2003G:p.H668R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.A2003G:p.H668R;	9.82406939379462E-4	0.094
18	47462622	T	G	18	49936252	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.A2003C:p.H668P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.A2003C:p.H668P;	0.00109702193298888	0.048
18	47462623	G	A	18	49936253	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.C2002T:p.H668Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.C2002T:p.H668Y;	1.09410387815389E-4	0.096
18	47462623	G	C	18	49936253	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.C2002G:p.H668D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.C2002G:p.H668D;	0.00453912128747368	0.066
18	47462623	G	T	18	49936253	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.C2002A:p.H668N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.C2002A:p.H668N;	5.183027629962E-4	0.154
18	47462624	A	C	18	49936254	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.T2001G:p.F667L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T2001G:p.F667L;	1.64026107028127E-4	0.162
18	47462624	A	G	18	49936254	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon16:c.T2001C:p.F667F;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T2001C:p.F667F;	2.28263669718493E-5	0.006
18	47462624	A	T	18	49936254	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.T2001A:p.F667L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T2001A:p.F667L;	4.84129171797974E-5	0.192
18	47462718	A	C	18	49936348	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.T1907G:p.F636C;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T1907G:p.F636C;	0.23443716727992	0.466
18	47462718	A	G	18	49936348	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.T1907C:p.F636S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T1907C:p.F636S;	0.234078007733492	0.49
18	47462718	A	T	18	49936348	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.T1907A:p.F636Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T1907A:p.F636Y;	0.29044684546945	0.49
18	47462719	A	C	18	49936349	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.T1906G:p.F636V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T1906G:p.F636V;	0.730305446221435	0.662
18	47462719	A	G	18	49936349	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.T1906C:p.F636L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T1906C:p.F636L;	0.838821137138774	0.67
18	47462719	A	T	18	49936349	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon16:c.T1906A:p.F636I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon16:c.T1906A:p.F636I;	0.549556254817767	0.694
18	47462720	C	A	18	49936350	y	y	splicing	MYO5B(NM_001080467:exon17:c.1906-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.1906-1G>T)	.	.	0.999986675681007	0.928
18	47462720	C	G	18	49936350	y	y	splicing	MYO5B(NM_001080467:exon17:c.1906-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.1906-1G>C)	.	.	0.999986675681007	0.928
18	47462720	C	T	18	49936350	y	y	splicing	MYO5B(NM_001080467:exon17:c.1906-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.1906-1G>A)	.	.	0.999986675681007	0.928
18	47462721	T	A	18	49936351	y	y	splicing	MYO5B(NM_001080467:exon17:c.1906-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.1906-2A>T)	.	.	0.999988247793601	0.928
18	47462721	T	C	18	49936351	y	y	splicing	MYO5B(NM_001080467:exon17:c.1906-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.1906-2A>G)	.	.	0.999988247793601	0.926
18	47462721	T	G	18	49936351	y	y	splicing	MYO5B(NM_001080467:exon17:c.1906-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon17:c.1906-2A>C)	.	.	0.999988247793601	0.926
18	47462722	A	C	18	49936352	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.990821945348707	0.676
18	47462722	A	G	18	49936352	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.89454636814056E-5	0.01
18	47462722	A	T	18	49936352	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00870477318634091	0.202
18	47462723	G	A	18	49936353	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.84735269573063E-5	0.006
18	47462723	G	C	18	49936353	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.61885806595919E-5	0.016
18	47462723	G	T	18	49936353	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.05601282265015E-5	0.006
18	47462724	A	C	18	49936354	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.27494837835645E-4	0.032
18	47462724	A	G	18	49936354	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.90046687254265E-5	0.0
18	47462724	A	T	18	49936354	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.89982097113725E-4	0.028
18	47462725	G	A	18	49936355	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.10784543293637E-4	0.004
18	47462725	G	C	18	49936355	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00287715549826233	0.136
18	47462725	G	T	18	49936355	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00261078070024249	0.144
18	47462726	A	C	18	49936356	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00558552421660649	0.25
18	47462726	A	G	18	49936356	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.42143919808073E-5	0.0
18	47462726	A	T	18	49936356	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0105024275790565	0.144
18	47462727	G	A	18	49936357	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.8935079202696E-5	0.0
18	47462727	G	C	18	49936357	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00228898613944252	0.03
18	47462727	G	T	18	49936357	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00189426780046889	0.052
18	47462728	A	C	18	49936358	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00321237081150868	0.12
18	47462728	A	G	18	49936358	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.96531075412879E-4	0.014
18	47462728	A	T	18	49936358	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00359603950258385	0.15
18	47462729	C	A	18	49936359	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.8626844621063E-5	0.006
18	47462729	C	G	18	49936359	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.38150473655222E-5	0.012
18	47462729	C	T	18	49936359	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.48653196062162E-4	0.018
18	47462730	A	C	18	49936360	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00235936867920175	0.198
18	47462730	A	G	18	49936360	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.10637229015603E-4	0.034
18	47462730	A	T	18	49936360	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999038274714752	0.902
18	47462731	A	C	18	49936361	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.93411490729933E-4	0.1
18	47462731	A	G	18	49936361	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.80265128442336E-5	0.004
18	47462731	A	T	18	49936361	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.06889991052565E-4	0.092
18	47463607	G	A	18	49937237	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.71060938685139E-5	0.0
18	47463607	G	C	18	49937237	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.69517614530172E-5	0.002
18	47463607	G	T	18	49937237	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.23660956941406E-5	0.01
18	47463608	G	A	18	49937238	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.18956257371088E-5	0.04
18	47463608	G	C	18	49937238	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.61939689269969E-5	0.018
18	47463608	G	T	18	49937238	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.10632276417266E-5	0.002
18	47463609	G	A	18	49937239	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.3438374925526E-5	0.02
18	47463609	G	C	18	49937239	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.09177645640328E-4	0.044
18	47463609	G	T	18	49937239	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.59821291097534E-4	0.012
18	47463610	C	A	18	49937240	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999561792106187	0.898
18	47463610	C	G	18	49937240	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998272962645462	0.85
18	47463610	C	T	18	49937240	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999570120306463	0.896
18	47463611	T	A	18	49937241	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.992703718989068	0.886
18	47463611	T	C	18	49937241	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.990646464952381	0.8
18	47463611	T	G	18	49937241	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.995974394635909	0.922
18	47463612	G	A	18	49937242	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00232941471737769	0.058
18	47463612	G	C	18	49937242	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.69119791191681E-4	0.04
18	47463612	G	T	18	49937242	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.75878359866493E-4	0.098
18	47463613	A	C	18	49937243	y	y	splicing	MYO5B(NM_001080467:exon16:c.1905+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1905+2T>G)	.	.	0.999989917668626	0.928
18	47463613	A	G	18	49937243	y	y	splicing	MYO5B(NM_001080467:exon16:c.1905+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1905+2T>C)	.	.	0.999922220381508	0.896
18	47463613	A	T	18	49937243	y	y	splicing	MYO5B(NM_001080467:exon16:c.1905+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1905+2T>A)	.	.	0.999989917668626	0.928
18	47463614	C	A	18	49937244	y	y	splicing	MYO5B(NM_001080467:exon16:c.1905+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1905+1G>T)	.	.	0.999986675681007	0.934
18	47463614	C	G	18	49937244	y	y	splicing	MYO5B(NM_001080467:exon16:c.1905+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1905+1G>C)	.	.	0.999986675681007	0.934
18	47463614	C	T	18	49937244	y	y	splicing	MYO5B(NM_001080467:exon16:c.1905+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1905+1G>A)	.	.	0.999986675681007	0.934
18	47463615	C	A	18	49937245	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.G1905T:p.Q635H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.G1905T:p.Q635H;	0.999990896815231	0.992
18	47463615	C	G	18	49937245	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.G1905C:p.Q635H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.G1905C:p.Q635H;	0.99999788250985	0.996
18	47463615	C	T	18	49937245	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon15:c.G1905A:p.Q635Q;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.G1905A:p.Q635Q;	0.999960440390901	0.998
18	47463616	T	A	18	49937246	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.A1904T:p.Q635L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.A1904T:p.Q635L;	0.999855062100581	0.994
18	47463616	T	C	18	49937246	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.A1904G:p.Q635R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.A1904G:p.Q635R;	0.9998104363523	0.988
18	47463616	T	G	18	49937246	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.A1904C:p.Q635P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.A1904C:p.Q635P;	0.999381859388325	0.98
18	47463617	G	A	18	49937247	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon15:c.C1903T:p.Q635X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon15:c.C1903T:p.Q635X;	0.999618186184496	0.888
18	47463617	G	C	18	49937247	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.C1903G:p.Q635E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.C1903G:p.Q635E;	0.810163127187043	0.656
18	47463617	G	T	18	49937247	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.C1903A:p.Q635K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.C1903A:p.Q635K;	0.915002138061617	0.784
18	47463766	A	C	18	49937396	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.T1754G:p.F585C;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.T1754G:p.F585C;	0.00352666479147244	0.058
18	47463766	A	G	18	49937396	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.T1754C:p.F585S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.T1754C:p.F585S;	0.0274809655703738	0.096
18	47463766	A	T	18	49937396	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.T1754A:p.F585Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.T1754A:p.F585Y;	0.0131524937851083	0.114
18	47463767	A	C	18	49937397	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.T1753G:p.F585V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.T1753G:p.F585V;	0.00769592631190417	0.172
18	47463767	A	G	18	49937397	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.T1753C:p.F585L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.T1753C:p.F585L;	0.0333437846601994	0.126
18	47463767	A	T	18	49937397	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon15:c.T1753A:p.F585I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon15:c.T1753A:p.F585I;	0.020328216895674	0.102
18	47463768	C	A	18	49937398	y	y	splicing	MYO5B(NM_001080467:exon16:c.1753-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1753-1G>T)	.	.	0.999988247793601	0.946
18	47463768	C	G	18	49937398	y	y	splicing	MYO5B(NM_001080467:exon16:c.1753-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1753-1G>C)	.	.	0.999988247793601	0.946
18	47463768	C	T	18	49937398	y	y	splicing	MYO5B(NM_001080467:exon16:c.1753-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1753-1G>A)	.	.	0.999988247793601	0.946
18	47463769	T	A	18	49937399	y	y	splicing	MYO5B(NM_001080467:exon16:c.1753-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1753-2A>T)	.	.	0.999993672935256	0.948
18	47463769	T	C	18	49937399	y	y	splicing	MYO5B(NM_001080467:exon16:c.1753-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1753-2A>G)	.	.	0.999993672935256	0.948
18	47463769	T	G	18	49937399	y	y	splicing	MYO5B(NM_001080467:exon16:c.1753-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon16:c.1753-2A>C)	.	.	0.999993672935256	0.948
18	47463770	A	C	18	49937400	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99889341783033	0.848
18	47463770	A	G	18	49937400	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.20424714946551E-4	0.018
18	47463770	A	T	18	49937400	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0757298190598591	0.372
18	47463771	G	A	18	49937401	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.47084650675136E-4	0.036
18	47463771	G	C	18	49937401	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00147782868299851	0.056
18	47463771	G	T	18	49937401	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0022408897133135	0.054
18	47463772	A	C	18	49937402	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.882714522524105	0.762
18	47463772	A	G	18	49937402	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.144875159296202	0.212
18	47463772	A	T	18	49937402	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997140202817659	0.906
18	47463773	A	C	18	49937403	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0940268201268465	0.574
18	47463773	A	G	18	49937403	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.19117074614023E-4	0.104
18	47463773	A	T	18	49937403	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.338247418496699	0.582
18	47463774	A	C	18	49937404	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.83690982978968	0.528
18	47463774	A	G	18	49937404	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00224722243235438	0.088
18	47463774	A	T	18	49937404	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.376453921543974	0.564
18	47463775	C	A	18	49937405	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.06270686189896E-5	0.016
18	47463775	C	G	18	49937405	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.06270686189896E-5	0.002
18	47463775	C	T	18	49937405	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00129066643254639	0.19
18	47463776	A	C	18	49937406	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997585601896545	0.898
18	47463776	A	G	18	49937406	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.294485976731441	0.374
18	47463776	A	T	18	49937406	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999990319173986	0.978
18	47463777	A	C	18	49937407	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999932375040975	0.968
18	47463777	A	G	18	49937407	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0191325644008426	0.182
18	47463777	A	T	18	49937407	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.979052420785455	0.764
18	47463778	T	A	18	49937408	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.06635937181635E-4	0.168
18	47463778	T	C	18	49937408	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.29107567742036E-4	0.008
18	47463778	T	G	18	49937408	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.12164546753234E-5	0.004
18	47463779	C	A	18	49937409	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.40892441157008E-4	0.024
18	47463779	C	G	18	49937409	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.39032008944648E-4	0.012
18	47463779	C	T	18	49937409	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.44323911225515E-4	0.08
18	47479622	C	A	18	49953252	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.66672549778408E-5	0.0
18	47479622	C	G	18	49953252	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.60006762603487E-5	0.0
18	47479622	C	T	18	49953252	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.66672549778408E-5	0.0
18	47479623	T	A	18	49953253	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.22033993844589E-4	0.0
18	47479623	T	C	18	49953253	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.31659057335773E-4	0.006
18	47479623	T	G	18	49953253	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.53838751976699E-5	0.0
18	47479624	C	A	18	49953254	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.9543828323932E-5	0.0
18	47479624	C	G	18	49953254	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.26968810426081E-4	0.016
18	47479624	C	T	18	49953254	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.5209551161577E-5	0.006
18	47479625	T	A	18	49953255	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00140403198030101	0.064
18	47479625	T	C	18	49953255	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.59002623224332E-4	0.05
18	47479625	T	G	18	49953255	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.57569449485914E-4	0.054
18	47479626	T	A	18	49953256	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.867381200768091	0.4
18	47479626	T	C	18	49953256	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.871316553780275	0.53
18	47479626	T	G	18	49953256	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.855054713156654	0.416
18	47479627	T	A	18	49953257	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999586098983691	0.956
18	47479627	T	C	18	49953257	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999378895085885	0.916
18	47479627	T	G	18	49953257	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999936433941174	0.986
18	47479628	A	C	18	49953258	y	y	splicing	MYO5B(NM_001080467:exon15:c.1752+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1752+2T>G)	.	.	0.999989917668626	0.928
18	47479628	A	G	18	49953258	y	y	splicing	MYO5B(NM_001080467:exon15:c.1752+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1752+2T>C)	.	.	0.993179459523591	0.654
18	47479628	A	T	18	49953258	y	y	splicing	MYO5B(NM_001080467:exon15:c.1752+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1752+2T>A)	.	.	0.999989917668626	0.928
18	47479629	C	A	18	49953259	y	y	splicing	MYO5B(NM_001080467:exon15:c.1752+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1752+1G>T)	.	.	0.999981760802075	0.944
18	47479629	C	G	18	49953259	y	y	splicing	MYO5B(NM_001080467:exon15:c.1752+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1752+1G>C)	.	.	0.999981760802075	0.944
18	47479629	C	T	18	49953259	y	y	splicing	MYO5B(NM_001080467:exon15:c.1752+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1752+1G>A)	.	.	0.999981760802075	0.944
18	47479630	C	A	18	49953260	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.G1752T:p.K584N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.G1752T:p.K584N;	0.999982477787124	1.0
18	47479630	C	G	18	49953260	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.G1752C:p.K584N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.G1752C:p.K584N;	0.999997690078459	1.0
18	47479630	C	T	18	49953260	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon14:c.G1752A:p.K584K;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.G1752A:p.K584K;	0.999967761432169	0.998
18	47479631	T	A	18	49953261	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.A1751T:p.K584M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.A1751T:p.K584M;	0.999585139267801	0.994
18	47479631	T	C	18	49953261	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.A1751G:p.K584R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.A1751G:p.K584R;	0.999777259711516	0.998
18	47479631	T	G	18	49953261	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.A1751C:p.K584T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.A1751C:p.K584T;	0.998700007234156	0.938
18	47479632	T	A	18	49953262	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon14:c.A1750T:p.K584X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon14:c.A1750T:p.K584X;	0.985046721838828	0.752
18	47479632	T	C	18	49953262	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.A1750G:p.K584E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.A1750G:p.K584E;	0.028602456497098	0.278
18	47479632	T	G	18	49953262	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.A1750C:p.K584Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.A1750C:p.K584Q;	0.00231697366107194	0.028
18	47479712	A	C	18	49953342	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.T1670G:p.V557G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.T1670G:p.V557G;	0.504666709454005	0.514
18	47479712	A	G	18	49953342	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.T1670C:p.V557A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.T1670C:p.V557A;	0.504666709454005	0.516
18	47479712	A	T	18	49953342	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.T1670A:p.V557E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.T1670A:p.V557E;	0.526662360169008	0.534
18	47479713	C	A	18	49953343	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.G1669T:p.V557L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.G1669T:p.V557L;	0.99990790881517	0.99
18	47479713	C	G	18	49953343	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.G1669C:p.V557L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.G1669C:p.V557L;	0.999888891032802	0.97
18	47479713	C	T	18	49953343	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon14:c.G1669A:p.V557M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon14:c.G1669A:p.V557M;	0.999759891113648	0.926
18	47479714	C	A	18	49953344	y	y	splicing	MYO5B(NM_001080467:exon15:c.1669-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1669-1G>T)	.	.	0.999979422316293	0.95
18	47479714	C	G	18	49953344	y	y	splicing	MYO5B(NM_001080467:exon15:c.1669-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1669-1G>C)	.	.	0.999979422316293	0.95
18	47479714	C	T	18	49953344	y	y	splicing	MYO5B(NM_001080467:exon15:c.1669-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1669-1G>A)	.	.	0.999979422316293	0.95
18	47479715	T	A	18	49953345	y	y	splicing	MYO5B(NM_001080467:exon15:c.1669-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1669-2A>T)	.	.	0.999988624979899	0.944
18	47479715	T	C	18	49953345	y	y	splicing	MYO5B(NM_001080467:exon15:c.1669-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1669-2A>G)	.	.	0.999988624979899	0.944
18	47479715	T	G	18	49953345	y	y	splicing	MYO5B(NM_001080467:exon15:c.1669-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon15:c.1669-2A>C)	.	.	0.999988624979899	0.944
18	47479716	G	A	18	49953346	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0559157519815091	0.218
18	47479716	G	C	18	49953346	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999928635529613	0.912
18	47479716	G	T	18	49953346	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99897117957809	0.818
18	47479717	G	A	18	49953347	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00100564827076136	0.088
18	47479717	G	C	18	49953347	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.95798269436778E-4	0.066
18	47479717	G	T	18	49953347	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.80119229009458E-4	0.096
18	47479718	G	A	18	49953348	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00109041594600089	0.036
18	47479718	G	C	18	49953348	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0273236966982813	0.308
18	47479718	G	T	18	49953348	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.22165395439289	0.326
18	47479719	G	A	18	49953349	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.435510637494251	0.576
18	47479719	G	C	18	49953349	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997346509504009	0.812
18	47479719	G	T	18	49953349	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.996582147402831	0.81
18	47479720	C	A	18	49953350	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.41134105209212E-4	0.052
18	47479720	C	G	18	49953350	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.41134105209212E-4	0.028
18	47479720	C	T	18	49953350	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0228370334901098	0.066
18	47479721	C	A	18	49953351	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.5992580351394E-5	0.03
18	47479721	C	G	18	49953351	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.23474077107532E-4	0.018
18	47479721	C	T	18	49953351	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999960344536458	0.964
18	47479722	A	C	18	49953352	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.893489495161002	0.596
18	47479722	A	G	18	49953352	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.28968160362421E-4	0.228
18	47479722	A	T	18	49953352	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999987698519495	0.922
18	47479723	C	A	18	49953353	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.58865157422223E-4	0.136
18	47479723	C	G	18	49953353	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.17493369643837E-4	0.096
18	47479723	C	T	18	49953353	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.79975512088792E-4	0.138
18	47479724	A	C	18	49953354	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.915121730039116	0.69
18	47479724	A	G	18	49953354	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0298598812773809	0.262
18	47479724	A	T	18	49953354	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999937198551511	0.87
18	47479725	G	A	18	49953355	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.60450368027409E-6	0.032
18	47479725	G	C	18	49953355	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00347381998389522	0.164
18	47479725	G	T	18	49953355	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00117936102859811	0.124
18	47480675	A	C	18	49954305	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.85694067387208E-4	0.084
18	47480675	A	G	18	49954305	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.68382139059463E-4	0.012
18	47480675	A	T	18	49954305	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.89208734539933E-4	0.1
18	47480676	G	A	18	49954306	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.57995103646368E-4	0.042
18	47480676	G	C	18	49954306	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.64037689011024E-4	0.038
18	47480676	G	T	18	49954306	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.41509747442261E-4	0.028
18	47480677	A	C	18	49954307	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.195649964160114	0.436
18	47480677	A	G	18	49954307	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0414470337052842	0.452
18	47480677	A	T	18	49954307	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.863026067243865	0.62
18	47480678	G	A	18	49954308	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0348161312575053	0.202
18	47480678	G	C	18	49954308	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00180784094865895	0.148
18	47480678	G	T	18	49954308	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00148043207862082	0.116
18	47480679	C	A	18	49954309	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.18066029336768E-4	0.072
18	47480679	C	G	18	49954309	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.25758137464773E-4	0.426
18	47480679	C	T	18	49954309	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.11358741983564E-4	0.054
18	47480680	C	A	18	49954310	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.995652039899167	0.674
18	47480680	C	G	18	49954310	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.993859234655544	0.64
18	47480680	C	T	18	49954310	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00168934955738342	0.094
18	47480681	A	C	18	49954311	y	y	splicing	MYO5B(NM_001080467:exon14:c.1668+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1668+2T>G)	.	.	0.999992861718126	0.938
18	47480681	A	G	18	49954311	y	y	splicing	MYO5B(NM_001080467:exon14:c.1668+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1668+2T>C)	.	.	0.999967612649954	0.882
18	47480681	A	T	18	49954311	y	y	splicing	MYO5B(NM_001080467:exon14:c.1668+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1668+2T>A)	.	.	0.999992861718126	0.938
18	47480682	C	A	18	49954312	y	y	splicing	MYO5B(NM_001080467:exon14:c.1668+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1668+1G>T)	.	.	0.999984967332678	0.95
18	47480682	C	G	18	49954312	y	y	splicing	MYO5B(NM_001080467:exon14:c.1668+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1668+1G>C)	.	.	0.999984967332678	0.95
18	47480682	C	T	18	49954312	y	y	splicing	MYO5B(NM_001080467:exon14:c.1668+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1668+1G>A)	.	.	0.999984967332678	0.95
18	47480683	C	A	18	49954313	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.G1668T:p.K556N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.G1668T:p.K556N;	0.999991630483647	0.998
18	47480683	C	G	18	49954313	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.G1668C:p.K556N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.G1668C:p.K556N;	0.99999732354475	1.0
18	47480683	C	T	18	49954313	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon13:c.G1668A:p.K556K;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.G1668A:p.K556K;	0.999977906612989	0.998
18	47480684	T	A	18	49954314	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.A1667T:p.K556M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.A1667T:p.K556M;	0.999945091686572	0.994
18	47480684	T	C	18	49954314	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.A1667G:p.K556R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.A1667G:p.K556R;	0.999956378077354	0.996
18	47480684	T	G	18	49954314	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.A1667C:p.K556T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.A1667C:p.K556T;	0.999945091686572	0.998
18	47480685	T	A	18	49954315	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon13:c.A1666T:p.K556X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon13:c.A1666T:p.K556X;	0.998831502106015	0.882
18	47480685	T	C	18	49954315	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.A1666G:p.K556E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.A1666G:p.K556E;	0.390251781025426	0.498
18	47480685	T	G	18	49954315	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.A1666C:p.K556Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.A1666C:p.K556Q;	0.237424901079768	0.654
18	47480804	A	C	18	49954434	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.T1547G:p.V516G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.T1547G:p.V516G;	0.162983283923151	0.42
18	47480804	A	G	18	49954434	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.T1547C:p.V516A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.T1547C:p.V516A;	0.0800277450032577	0.356
18	47480804	A	T	18	49954434	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.T1547A:p.V516D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.T1547A:p.V516D;	0.0894874411456505	0.392
18	47480805	C	A	18	49954435	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.G1546T:p.V516F;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.G1546T:p.V516F;	0.992852461471605	0.962
18	47480805	C	G	18	49954435	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.G1546C:p.V516L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.G1546C:p.V516L;	0.563983390024625	0.806
18	47480805	C	T	18	49954435	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon13:c.G1546A:p.V516I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon13:c.G1546A:p.V516I;	0.993675188905017	0.718
18	47480806	C	A	18	49954436	y	y	splicing	MYO5B(NM_001080467:exon14:c.1546-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1546-1G>T)	.	.	0.999988247793601	0.93
18	47480806	C	G	18	49954436	y	y	splicing	MYO5B(NM_001080467:exon14:c.1546-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1546-1G>C)	.	.	0.999988247793601	0.93
18	47480806	C	T	18	49954436	y	y	splicing	MYO5B(NM_001080467:exon14:c.1546-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1546-1G>A)	.	.	0.999988247793601	0.93
18	47480807	T	A	18	49954437	y	y	splicing	MYO5B(NM_001080467:exon14:c.1546-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1546-2A>T)	.	.	0.999993672935256	0.93
18	47480807	T	C	18	49954437	y	y	splicing	MYO5B(NM_001080467:exon14:c.1546-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1546-2A>G)	.	.	0.999993672935256	0.93
18	47480807	T	G	18	49954437	y	y	splicing	MYO5B(NM_001080467:exon14:c.1546-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon14:c.1546-2A>C)	.	.	0.999993672935256	0.93
18	47480808	G	A	18	49954438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00597543891862523	0.038
18	47480808	G	C	18	49954438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999698496488368	0.968
18	47480808	G	T	18	49954438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.740259127655576	0.628
18	47480809	C	A	18	49954439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.00442828494015E-4	0.004
18	47480809	C	G	18	49954439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.6447460847026E-4	0.008
18	47480809	C	T	18	49954439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.63058809728688E-4	0.006
18	47480810	A	C	18	49954440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.486288674934082	0.514
18	47480810	A	G	18	49954440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.07598374492615E-4	0.022
18	47480810	A	T	18	49954440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99984430852246	0.854
18	47480811	G	A	18	49954441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.02427356066968E-4	0.002
18	47480811	G	C	18	49954441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0151191522345598	0.186
18	47480811	G	T	18	49954441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0145601200276738	0.23
18	47480812	A	C	18	49954442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0386301225627302	0.08
18	47480812	A	G	18	49954442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.03336413270997E-5	0.002
18	47480812	A	T	18	49954442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.17131108787272	0.274
18	47480813	A	C	18	49954443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00297045729716415	0.074
18	47480813	A	G	18	49954443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.60098596837914E-5	0.002
18	47480813	A	T	18	49954443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0349081458544701	0.096
18	47480814	C	A	18	49954444	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.74646718595593E-5	0.012
18	47480814	C	G	18	49954444	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.52922662040469E-5	0.0
18	47480814	C	T	18	49954444	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.6470333151845E-5	0.008
18	47480815	C	A	18	49954445	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.22752848597924E-5	0.002
18	47480815	C	G	18	49954445	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.92252964412973E-5	0.004
18	47480815	C	T	18	49954445	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.978526465300681	0.936
18	47480816	A	C	18	49954446	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.674542914127112	0.534
18	47480816	A	G	18	49954446	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.051924486966399	0.146
18	47480816	A	T	18	49954446	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999925462032407	0.952
18	47480817	C	A	18	49954447	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.55460563768246E-5	0.002
18	47480817	C	G	18	49954447	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.97490335260717E-5	0.006
18	47480817	C	T	18	49954447	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.0230562605742E-5	0.016
18	47488628	A	C	18	49962258	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.95815540499835E-5	0.0
18	47488628	A	G	18	49962258	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.95815540499835E-5	0.0
18	47488628	A	T	18	49962258	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.78958691012223E-5	0.0
18	47488629	G	A	18	49962259	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.54345103878306E-5	0.002
18	47488629	G	C	18	49962259	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.14464094508451E-5	0.0
18	47488629	G	T	18	49962259	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.12786175346948E-5	0.0
18	47488630	T	A	18	49962260	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.25324969466854E-5	0.012
18	47488630	T	C	18	49962260	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.07032293782989E-5	0.0
18	47488630	T	G	18	49962260	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.8076404909651E-4	0.022
18	47488631	T	A	18	49962261	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00367058718931694	0.092
18	47488631	T	C	18	49962261	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0016858332586339	0.034
18	47488631	T	G	18	49962261	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00395196977653503	0.098
18	47488632	T	A	18	49962262	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.9952966799004	0.87
18	47488632	T	C	18	49962262	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99531891470754	0.878
18	47488632	T	G	18	49962262	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997486375059507	0.864
18	47488633	T	A	18	49962263	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999959103144693	0.99
18	47488633	T	C	18	49962263	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.990900258911616	0.796
18	47488633	T	G	18	49962263	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999908178707875	0.866
18	47488634	A	C	18	49962264	y	y	splicing	MYO5B(NM_001080467:exon13:c.1545+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1545+2T>G)	.	.	0.999988247793601	0.928
18	47488634	A	G	18	49962264	y	y	splicing	MYO5B(NM_001080467:exon13:c.1545+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1545+2T>C)	.	.	0.991057824102482	0.658
18	47488634	A	T	18	49962264	y	y	splicing	MYO5B(NM_001080467:exon13:c.1545+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1545+2T>A)	.	.	0.999988247793601	0.928
18	47488635	C	A	18	49962265	y	y	splicing	MYO5B(NM_001080467:exon13:c.1545+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1545+1G>T)	.	.	0.999986675681007	0.932
18	47488635	C	G	18	49962265	y	y	splicing	MYO5B(NM_001080467:exon13:c.1545+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1545+1G>C)	.	.	0.999986675681007	0.932
18	47488635	C	T	18	49962265	y	y	splicing	MYO5B(NM_001080467:exon13:c.1545+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1545+1G>A)	.	.	0.999986675681007	0.932
18	47488636	C	A	18	49962266	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.G1545T:p.K515N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.G1545T:p.K515N;	0.999990846406755	1.0
18	47488636	C	G	18	49962266	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.G1545C:p.K515N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.G1545C:p.K515N;	0.999998312535482	1.0
18	47488636	C	T	18	49962266	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon12:c.G1545A:p.K515K;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.G1545A:p.K515K;	0.999979920413112	0.992
18	47488637	T	A	18	49962267	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.A1544T:p.K515M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.A1544T:p.K515M;	0.999861105476321	0.998
18	47488637	T	C	18	49962267	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.A1544G:p.K515R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.A1544G:p.K515R;	0.998338987311582	0.97
18	47488637	T	G	18	49962267	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.A1544C:p.K515T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.A1544C:p.K515T;	0.999341438606582	0.96
18	47488638	T	A	18	49962268	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon12:c.A1543T:p.K515X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon12:c.A1543T:p.K515X;	0.996527919436687	0.792
18	47488638	T	C	18	49962268	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.A1543G:p.K515E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.A1543G:p.K515E;	0.514907364724037	0.43
18	47488638	T	G	18	49962268	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.A1543C:p.K515Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.A1543C:p.K515Q;	0.647859437776888	0.596
18	47488775	T	A	18	49962405	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.A1406T:p.H469L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.A1406T:p.H469L;	0.680859779560007	0.678
18	47488775	T	C	18	49962405	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.A1406G:p.H469R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.A1406G:p.H469R;	0.776139749541703	0.75
18	47488775	T	G	18	49962405	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.A1406C:p.H469P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.A1406C:p.H469P;	0.812895529281928	0.81
18	47488776	G	A	18	49962406	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.C1405T:p.H469Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.C1405T:p.H469Y;	0.994893245456614	0.948
18	47488776	G	C	18	49962406	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.C1405G:p.H469D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.C1405G:p.H469D;	0.954544054796344	0.644
18	47488776	G	T	18	49962406	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.C1405A:p.H469N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon12:c.C1405A:p.H469N;	0.937160845927139	0.746
18	47488777	C	A	18	49962407	y	y	splicing	MYO5B(NM_001080467:exon13:c.1405-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1405-1G>T)	.	.	0.999986675681007	0.942
18	47488777	C	G	18	49962407	y	y	splicing	MYO5B(NM_001080467:exon13:c.1405-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1405-1G>C)	.	.	0.999986675681007	0.942
18	47488777	C	T	18	49962407	y	y	splicing	MYO5B(NM_001080467:exon13:c.1405-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1405-1G>A)	.	.	0.999986675681007	0.942
18	47488778	T	A	18	49962408	y	y	splicing	MYO5B(NM_001080467:exon13:c.1405-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1405-2A>T)	.	.	0.999988247793601	0.938
18	47488778	T	C	18	49962408	y	y	splicing	MYO5B(NM_001080467:exon13:c.1405-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1405-2A>G)	.	.	0.999988247793601	0.938
18	47488778	T	G	18	49962408	y	y	splicing	MYO5B(NM_001080467:exon13:c.1405-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon13:c.1405-2A>C)	.	.	0.999988247793601	0.938
18	47488779	A	C	18	49962409	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.985107898374537	0.73
18	47488779	A	G	18	49962409	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.17278691162356E-5	0.118
18	47488779	A	T	18	49962409	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.712181907861655	0.48
18	47488780	G	A	18	49962410	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.25730199696988E-5	0.008
18	47488780	G	C	18	49962410	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.07865950100945E-4	0.0
18	47488780	G	T	18	49962410	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.19040542822137E-5	0.008
18	47488781	G	A	18	49962411	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.8556854804587E-5	0.008
18	47488781	G	C	18	49962411	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0169118483786046	0.206
18	47488781	G	T	18	49962411	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00691052097309931	0.136
18	47488782	G	A	18	49962412	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.17119816568952E-5	0.004
18	47488782	G	C	18	49962412	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0302967422494359	0.354
18	47488782	G	T	18	49962412	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.016446157427435	0.326
18	47488783	C	A	18	49962413	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.31818855693946E-5	0.006
18	47488783	C	G	18	49962413	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.27631124754257E-5	0.014
18	47488783	C	T	18	49962413	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.62304818563806E-5	0.0
18	47488784	A	C	18	49962414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00352990329035628	0.198
18	47488784	A	G	18	49962414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.11234712341634E-4	0.0
18	47488784	A	T	18	49962414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999968542553641	0.994
18	47488785	A	C	18	49962415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0734300236444317	0.46
18	47488785	A	G	18	49962415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0010585168894604	0.126
18	47488785	A	T	18	49962415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.285405976493726	0.512
18	47488786	G	A	18	49962416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.775182827352926	0.548
18	47488786	G	C	18	49962416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999925852241311	0.958
18	47488786	G	T	18	49962416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.990344683596224	0.648
18	47488787	T	A	18	49962417	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00126780322382993	0.096
18	47488787	T	C	18	49962417	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.72194939523369E-4	0.004
18	47488787	T	G	18	49962417	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.26659704520727E-4	0.044
18	47488788	A	C	18	49962418	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00320478617011678	0.282
18	47488788	A	G	18	49962418	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.31644241118228E-5	0.05
18	47488788	A	T	18	49962418	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.011177306229559	0.392
18	47489311	A	C	18	49962941	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.86686443874187E-5	0.0
18	47489311	A	G	18	49962941	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.86686443874187E-5	0.0
18	47489311	A	T	18	49962941	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.80556305223573E-4	0.002
18	47489312	A	C	18	49962942	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.46175166467479E-5	0.016
18	47489312	A	G	18	49962942	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.40202559021094E-5	0.022
18	47489312	A	T	18	49962942	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.60629193471506E-5	0.014
18	47489313	G	A	18	49962943	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.57794544807238E-5	0.048
18	47489313	G	C	18	49962943	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.90308915168613E-4	0.054
18	47489313	G	T	18	49962943	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.4234586352878E-4	0.04
18	47489314	C	A	18	49962944	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999976752625264	0.978
18	47489314	C	G	18	49962944	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999985705550522	0.994
18	47489314	C	T	18	49962944	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999983967604051	0.992
18	47489315	C	A	18	49962945	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.59955277263741E-4	0.102
18	47489315	C	G	18	49962945	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.63143434128395E-4	0.174
18	47489315	C	T	18	49962945	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.87632120304726E-4	0.052
18	47489316	T	A	18	49962946	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999879327895112	0.932
18	47489316	T	C	18	49962946	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.930052390933173	0.844
18	47489316	T	G	18	49962946	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999909049861774	0.962
18	47489317	A	C	18	49962947	y	y	splicing	MYO5B(NM_001080467:exon12:c.1404+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1404+2T>G)	.	.	0.999990764389106	0.942
18	47489317	A	G	18	49962947	y	y	splicing	MYO5B(NM_001080467:exon12:c.1404+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1404+2T>C)	.	.	0.999933373721707	0.882
18	47489317	A	T	18	49962947	y	y	splicing	MYO5B(NM_001080467:exon12:c.1404+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1404+2T>A)	.	.	0.999990764389106	0.942
18	47489318	C	A	18	49962948	y	y	splicing	MYO5B(NM_001080467:exon12:c.1404+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1404+1G>T)	.	.	0.999992425382947	0.94
18	47489318	C	G	18	49962948	y	y	splicing	MYO5B(NM_001080467:exon12:c.1404+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1404+1G>C)	.	.	0.999992425382947	0.94
18	47489318	C	T	18	49962948	y	y	splicing	MYO5B(NM_001080467:exon12:c.1404+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1404+1G>A)	.	.	0.999992425382947	0.94
18	47489319	C	A	18	49962949	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon11:c.G1404T:p.S468S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.G1404T:p.S468S;	0.999980681659557	1.0
18	47489319	C	G	18	49962949	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon11:c.G1404C:p.S468S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.G1404C:p.S468S;	0.999994983960432	0.996
18	47489319	C	T	18	49962949	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon11:c.G1404A:p.S468S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.G1404A:p.S468S;	0.999986896353996	1.0
18	47489320	G	A	18	49962950	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon11:c.C1403T:p.S468L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.C1403T:p.S468L;	0.00471505737748671	0.04
18	47489320	G	C	18	49962950	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon11:c.C1403G:p.S468W;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.C1403G:p.S468W;	0.00185043524706633	0.122
18	47489320	G	T	18	49962950	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon11:c.C1403A:p.S468X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon11:c.C1403A:p.S468X;	1.86519334378747E-4	0.366
18	47489321	A	C	18	49962951	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon11:c.T1402G:p.S468A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.T1402G:p.S468A;	0.0107283151427505	0.09
18	47489321	A	G	18	49962951	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon11:c.T1402C:p.S468P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.T1402C:p.S468P;	0.0224152457016349	0.278
18	47489321	A	T	18	49962951	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon11:c.T1402A:p.S468T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.T1402A:p.S468T;	0.00186731316360226	0.042
18	47489399	A	C	18	49963029	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon11:c.T1324G:p.F442V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.T1324G:p.F442V;	0.264114378254074	0.48
18	47489399	A	G	18	49963029	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon11:c.T1324C:p.F442L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.T1324C:p.F442L;	0.373670850758641	0.61
18	47489399	A	T	18	49963029	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon11:c.T1324A:p.F442I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.T1324A:p.F442I;	0.420650926189406	0.604
18	47489400	C	A	18	49963030	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon11:c.G1323T:p.G441G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.G1323T:p.G441G;	0.600395203222592	0.564
18	47489400	C	G	18	49963030	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon11:c.G1323C:p.G441G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.G1323C:p.G441G;	0.150598858563221	0.39
18	47489400	C	T	18	49963030	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon11:c.G1323A:p.G441G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon11:c.G1323A:p.G441G;	0.00485970005934744	0.25
18	47489401	C	A	18	49963031	y	y	splicing	MYO5B(NM_001080467:exon12:c.1323-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1323-1G>T)	.	.	0.999982737877662	0.932
18	47489401	C	G	18	49963031	y	y	splicing	MYO5B(NM_001080467:exon12:c.1323-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1323-1G>C)	.	.	0.99995545544995	0.932
18	47489401	C	T	18	49963031	y	y	splicing	MYO5B(NM_001080467:exon12:c.1323-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1323-1G>A)	.	.	0.999982737877662	0.938
18	47489402	T	A	18	49963032	y	y	splicing	MYO5B(NM_001080467:exon12:c.1323-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1323-2A>T)	.	.	0.99994568797423	0.926
18	47489402	T	C	18	49963032	y	y	splicing	MYO5B(NM_001080467:exon12:c.1323-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1323-2A>G)	.	.	0.99994568797423	0.944
18	47489402	T	G	18	49963032	y	y	splicing	MYO5B(NM_001080467:exon12:c.1323-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon12:c.1323-2A>C)	.	.	0.99994568797423	0.944
18	47489403	A	C	18	49963033	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.803145085138664	0.632
18	47489403	A	G	18	49963033	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.34351982167888E-5	0.0
18	47489403	A	T	18	49963033	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.75590777538798E-4	0.082
18	47489404	C	A	18	49963034	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.30307028751707E-5	0.0
18	47489404	C	G	18	49963034	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.59055660949683E-5	0.0
18	47489404	C	T	18	49963034	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.64185116783577E-5	0.0
18	47489405	A	C	18	49963035	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0268664503002298	0.232
18	47489405	A	G	18	49963035	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.66746630952617E-5	0.018
18	47489405	A	T	18	49963035	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999767877070522	0.91
18	47489406	G	A	18	49963036	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.84604287473846E-5	0.0
18	47489406	G	C	18	49963036	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.33777984826824E-4	0.072
18	47489406	G	T	18	49963036	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.5243078177872E-4	0.074
18	47489407	A	C	18	49963037	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.217618668051E-4	0.028
18	47489407	A	G	18	49963037	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.3741057977465E-5	0.0
18	47489407	A	T	18	49963037	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.73082884036742E-4	0.022
18	47489408	A	C	18	49963038	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999211196818133	0.984
18	47489408	A	G	18	49963038	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.03438016490449E-5	0.03
18	47489408	A	T	18	49963038	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.8153466352315E-4	0.042
18	47489409	T	A	18	49963039	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.25279927330413E-5	0.0
18	47489409	T	C	18	49963039	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.15520201518176E-5	0.004
18	47489409	T	G	18	49963039	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.80190019730557E-6	0.0
18	47489410	G	A	18	49963040	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.18754770055449E-5	0.0
18	47489410	G	C	18	49963040	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.61221054569876E-5	0.014
18	47489410	G	T	18	49963040	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.18826900835886E-5	0.01
18	47489411	G	A	18	49963041	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.50355974338474E-4	0.002
18	47489411	G	C	18	49963041	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.38406370605057E-4	0.036
18	47489411	G	T	18	49963041	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00169590932294233	0.12
18	47489412	A	C	18	49963042	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00343147929253958	0.252
18	47489412	A	G	18	49963042	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.76154659807768E-4	0.014
18	47489412	A	T	18	49963042	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0035473204928423	0.252
18	47500712	A	C	18	49974342	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.21467228068343E-4	0.054
18	47500712	A	G	18	49974342	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.21467228068343E-4	0.156
18	47500712	A	T	18	49974342	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.33831116692411E-4	0.034
18	47500713	G	A	18	49974343	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.11854229094506E-4	0.038
18	47500713	G	C	18	49974343	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.14885153756493E-4	0.0
18	47500713	G	T	18	49974343	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.89822088569661E-4	0.01
18	47500714	G	A	18	49974344	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.88710379484783E-4	0.064
18	47500714	G	C	18	49974344	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.8221329647204E-4	0.114
18	47500714	G	T	18	49974344	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.93253823302344E-4	0.07
18	47500715	C	A	18	49974345	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999983675676283	0.986
18	47500715	C	G	18	49974345	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999988288829567	0.996
18	47500715	C	T	18	49974345	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999983450731559	1.0
18	47500716	C	A	18	49974346	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.72702800837713E-4	0.202
18	47500716	C	G	18	49974346	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.01571811268264E-4	0.236
18	47500716	C	T	18	49974346	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.10009828455353E-4	0.042
18	47500717	T	A	18	49974347	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999894883377158	0.942
18	47500717	T	C	18	49974347	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.983236046180664	0.902
18	47500717	T	G	18	49974347	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999959633850694	0.942
18	47500718	A	C	18	49974348	y	y	splicing	MYO5B(NM_001080467:exon11:c.1322+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1322+2T>G)	.	.	0.999986741007567	0.946
18	47500718	A	G	18	49974348	y	y	splicing	MYO5B(NM_001080467:exon11:c.1322+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1322+2T>C)	.	.	0.999892396934419	0.878
18	47500718	A	T	18	49974348	y	y	splicing	MYO5B(NM_001080467:exon11:c.1322+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1322+2T>A)	.	.	0.999986741007567	0.946
18	47500719	C	A	18	49974349	y	y	splicing	MYO5B(NM_001080467:exon11:c.1322+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1322+1G>T)	.	.	0.999989125585301	0.944
18	47500719	C	G	18	49974349	y	y	splicing	MYO5B(NM_001080467:exon11:c.1322+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1322+1G>C)	.	.	0.999989125585301	0.944
18	47500719	C	T	18	49974349	y	y	splicing	MYO5B(NM_001080467:exon11:c.1322+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1322+1G>A)	.	.	0.999989125585301	0.944
18	47500720	C	A	18	49974350	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.G1322T:p.G441V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.G1322T:p.G441V;	0.999991678220772	1.0
18	47500720	C	G	18	49974350	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.G1322C:p.G441A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.G1322C:p.G441A;	0.999998047848002	1.0
18	47500720	C	T	18	49974350	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.G1322A:p.G441E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.G1322A:p.G441E;	0.999997135653201	1.0
18	47500721	C	A	18	49974351	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.G1321T:p.G441W;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.G1321T:p.G441W;	0.993177941756051	0.858
18	47500721	C	G	18	49974351	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.G1321C:p.G441R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.G1321C:p.G441R;	0.993855767267395	0.898
18	47500721	C	T	18	49974351	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.G1321A:p.G441R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.G1321A:p.G441R;	0.98369307875292	0.714
18	47500722	A	C	18	49974352	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon10:c.T1320G:p.Y440X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon10:c.T1320G:p.Y440X;	1.07199610133245E-4	0.34
18	47500722	A	G	18	49974352	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon10:c.T1320C:p.Y440Y;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.T1320C:p.Y440Y;	4.01904579134683E-5	0.02
18	47500722	A	T	18	49974352	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon10:c.T1320A:p.Y440X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon10:c.T1320A:p.Y440X;	6.45168512174431E-5	0.446
18	47500984	G	A	18	49974614	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.C1058T:p.P353L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.C1058T:p.P353L;	0.00205834009764149	0.038
18	47500984	G	C	18	49974614	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.C1058G:p.P353R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.C1058G:p.P353R;	9.66843995774936E-4	0.048
18	47500984	G	T	18	49974614	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.C1058A:p.P353H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.C1058A:p.P353H;	0.00310487963410596	0.036
18	47500985	G	A	18	49974615	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.C1057T:p.P353S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.C1057T:p.P353S;	0.00688325967103212	0.232
18	47500985	G	C	18	49974615	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.C1057G:p.P353A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.C1057G:p.P353A;	4.44582379272907E-4	0.2
18	47500985	G	T	18	49974615	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon10:c.C1057A:p.P353T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon10:c.C1057A:p.P353T;	2.6332712616204E-4	0.008
18	47500986	C	A	18	49974616	y	y	splicing	MYO5B(NM_001080467:exon11:c.1057-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1057-1G>T)	.	.	0.999927003246716	0.884
18	47500986	C	G	18	49974616	y	y	splicing	MYO5B(NM_001080467:exon11:c.1057-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1057-1G>C)	.	.	0.999927003246716	0.872
18	47500986	C	T	18	49974616	y	y	splicing	MYO5B(NM_001080467:exon11:c.1057-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1057-1G>A)	.	.	0.999927003246716	0.886
18	47500987	T	A	18	49974617	y	y	splicing	MYO5B(NM_001080467:exon11:c.1057-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1057-2A>T)	.	.	0.999931658812138	0.784
18	47500987	T	C	18	49974617	y	y	splicing	MYO5B(NM_001080467:exon11:c.1057-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1057-2A>G)	.	.	0.999946001720132	0.768
18	47500987	T	G	18	49974617	y	y	splicing	MYO5B(NM_001080467:exon11:c.1057-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon11:c.1057-2A>C)	.	.	0.999931658812138	0.766
18	47500988	G	A	18	49974618	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00657378726201718	0.122
18	47500988	G	C	18	49974618	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999963822652387	0.816
18	47500988	G	T	18	49974618	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.995442263527833	0.788
18	47500989	T	A	18	49974619	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.97968741279739E-4	0.03
18	47500989	T	C	18	49974619	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.34313845017136E-4	0.036
18	47500989	T	G	18	49974619	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.55564972357886E-4	0.048
18	47500990	G	A	18	49974620	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.06250777657584E-5	0.01
18	47500990	G	C	18	49974620	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00667809604678477	0.208
18	47500990	G	T	18	49974620	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.68445823362107E-4	0.126
18	47500991	G	A	18	49974621	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.76696472732676E-5	0.002
18	47500991	G	C	18	49974621	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00631972826143504	0.134
18	47500991	G	T	18	49974621	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00556438327164968	0.198
18	47500992	G	A	18	49974622	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.30261571823467E-5	0.002
18	47500992	G	C	18	49974622	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00773149242654084	0.05
18	47500992	G	T	18	49974622	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0139645013706684	0.05
18	47500993	A	C	18	49974623	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00107790210199699	0.098
18	47500993	A	G	18	49974623	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.17032974046623E-4	0.0
18	47500993	A	T	18	49974623	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.8090378480142E-4	0.154
18	47500994	G	A	18	49974624	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.69953273733539E-5	0.0
18	47500994	G	C	18	49974624	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.8163899387962E-4	0.038
18	47500994	G	T	18	49974624	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00162195728078827	0.052
18	47500995	A	C	18	49974625	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99996273182339	0.982
18	47500995	A	G	18	49974625	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.68509210995507E-4	0.082
18	47500995	A	T	18	49974625	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00135822505607755	0.164
18	47500996	T	A	18	49974626	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.05304218991336E-5	0.074
18	47500996	T	C	18	49974626	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.24508748915067E-5	0.002
18	47500996	T	G	18	49974626	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.26694676631494E-5	0.0
18	47500997	G	A	18	49974627	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.56711884094692E-5	0.004
18	47500997	G	C	18	49974627	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.36496869103651E-5	0.038
18	47500997	G	T	18	49974627	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.60840830307793E-5	0.024
18	47506806	C	A	18	49980436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0717336637579988	0.208
18	47506806	C	G	18	49980436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0204922021491219	0.24
18	47506806	C	T	18	49980436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0716113169529793	0.224
18	47506807	A	C	18	49980437	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.62540833435617E-4	0.008
18	47506807	A	G	18	49980437	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.62540833435617E-4	0.006
18	47506807	A	T	18	49980437	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.84389790685765E-4	0.006
18	47506808	A	C	18	49980438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.993587679728719	0.868
18	47506808	A	G	18	49980438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.989735130058907	0.9
18	47506808	A	T	18	49980438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997993599454308	0.788
18	47506809	C	A	18	49980439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99996655793034	0.988
18	47506809	C	G	18	49980439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999976008337081	0.992
18	47506809	C	T	18	49980439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999976008337081	1.0
18	47506810	T	A	18	49980440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999179791754295	0.938
18	47506810	T	C	18	49980440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.995380943377265	0.96
18	47506810	T	G	18	49980440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998857011061156	0.904
18	47506811	T	A	18	49980441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999765653547743	0.82
18	47506811	T	C	18	49980441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0255107118605737	0.344
18	47506811	T	G	18	49980441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999740897154962	0.874
18	47506812	A	C	18	49980442	y	y	splicing	MYO5B(NM_001080467:exon10:c.1056+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.1056+2T>G)	.	.	0.999988247793601	0.93
18	47506812	A	G	18	49980442	y	y	splicing	MYO5B(NM_001080467:exon10:c.1056+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.1056+2T>C)	.	.	0.999332492903112	0.866
18	47506812	A	T	18	49980442	y	y	splicing	MYO5B(NM_001080467:exon10:c.1056+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.1056+2T>A)	.	.	0.999988247793601	0.93
18	47506813	C	A	18	49980443	y	y	splicing	MYO5B(NM_001080467:exon10:c.1056+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.1056+1G>T)	.	.	0.999990361384395	0.938
18	47506813	C	G	18	49980443	y	y	splicing	MYO5B(NM_001080467:exon10:c.1056+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.1056+1G>C)	.	.	0.999990361384395	0.938
18	47506813	C	T	18	49980443	y	y	splicing	MYO5B(NM_001080467:exon10:c.1056+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.1056+1G>A)	.	.	0.999990361384395	0.938
18	47506814	T	A	18	49980444	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon9:c.A1056T:p.S352S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.A1056T:p.S352S;	0.00235738903764375	0.114
18	47506814	T	C	18	49980444	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon9:c.A1056G:p.S352S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.A1056G:p.S352S;	1.84136838178222E-4	0.026
18	47506814	T	G	18	49980444	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon9:c.A1056C:p.S352S;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.A1056C:p.S352S;	2.0483319419785E-4	0.102
18	47506815	G	A	18	49980445	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.C1055T:p.S352L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.C1055T:p.S352L;	0.00105711147944872	0.158
18	47506815	G	C	18	49980445	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon9:c.C1055G:p.S352X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon9:c.C1055G:p.S352X;	0.546858006778847	0.636
18	47506815	G	T	18	49980445	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon9:c.C1055A:p.S352X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon9:c.C1055A:p.S352X;	0.290749282499447	0.516
18	47506816	A	C	18	49980446	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.T1054G:p.S352A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.T1054G:p.S352A;	2.88599915151748E-5	0.018
18	47506816	A	G	18	49980446	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.T1054C:p.S352P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.T1054C:p.S352P;	1.61766298169041E-5	0.0
18	47506816	A	T	18	49980446	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.T1054A:p.S352T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.T1054A:p.S352T;	2.66263485303142E-5	0.004
18	47506922	T	A	18	49980552	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon9:c.A948T:p.G316G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.A948T:p.G316G;	1.02027538321619E-4	0.0
18	47506922	T	C	18	49980552	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon9:c.A948G:p.G316G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.A948G:p.G316G;	6.54933799860951E-4	0.012
18	47506922	T	G	18	49980552	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon9:c.A948C:p.G316G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.A948C:p.G316G;	0.00139391525146039	0.016
18	47506923	C	A	18	49980553	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.G947T:p.G316V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.G947T:p.G316V;	0.999710813038828	0.944
18	47506923	C	G	18	49980553	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.G947C:p.G316A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.G947C:p.G316A;	0.999686265810905	0.92
18	47506923	C	T	18	49980553	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.G947A:p.G316E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon9:c.G947A:p.G316E;	0.997969572807326	0.856
18	47506924	C	A	18	49980554	y	y	splicing	MYO5B(NM_001080467:exon10:c.947-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.947-1G>T)	.	.	0.999987124402133	0.936
18	47506924	C	G	18	49980554	y	y	splicing	MYO5B(NM_001080467:exon10:c.947-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.947-1G>C)	.	.	0.999987124402133	0.936
18	47506924	C	T	18	49980554	y	y	splicing	MYO5B(NM_001080467:exon10:c.947-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.947-1G>A)	.	.	0.999987124402133	0.936
18	47506925	T	A	18	49980555	y	y	splicing	MYO5B(NM_001080467:exon10:c.947-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.947-2A>T)	.	.	0.999988247793601	0.926
18	47506925	T	C	18	49980555	y	y	splicing	MYO5B(NM_001080467:exon10:c.947-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.947-2A>G)	.	.	0.999988247793601	0.926
18	47506925	T	G	18	49980555	y	y	splicing	MYO5B(NM_001080467:exon10:c.947-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon10:c.947-2A>C)	.	.	0.999988247793601	0.926
18	47506926	G	A	18	49980556	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00326577818152383	0.136
18	47506926	G	C	18	49980556	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.975060883767491	0.754
18	47506926	G	T	18	49980556	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.411736028950722	0.56
18	47506927	G	A	18	49980557	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.9091256082446E-5	0.0
18	47506927	G	C	18	49980557	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.74904126780291E-5	0.008
18	47506927	G	T	18	49980557	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.68245903635448E-5	0.0
18	47506928	A	C	18	49980558	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00190374287811965	0.088
18	47506928	A	G	18	49980558	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.29338028911579E-4	0.008
18	47506928	A	T	18	49980558	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00106377554559054	0.108
18	47506929	A	C	18	49980559	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00340139629886381	0.094
18	47506929	A	G	18	49980559	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.20485784852843E-5	0.004
18	47506929	A	T	18	49980559	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.82609524360078E-4	0.086
18	47506930	A	C	18	49980560	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00123744805311186	0.08
18	47506930	A	G	18	49980560	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.97689253122039E-4	0.0
18	47506930	A	T	18	49980560	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00226693028968942	0.07
18	47506931	A	C	18	49980561	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.21779355524774E-4	0.04
18	47506931	A	G	18	49980561	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.83565488580208E-5	0.008
18	47506931	A	T	18	49980561	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.36315579065078E-4	0.044
18	47506932	G	A	18	49980562	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.93794265216731E-5	0.012
18	47506932	G	C	18	49980562	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.18012500698904E-4	0.006
18	47506932	G	T	18	49980562	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.18012500698904E-4	0.01
18	47506933	A	C	18	49980563	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00221857824656798	0.18
18	47506933	A	G	18	49980563	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.53005837415795E-4	0.036
18	47506933	A	T	18	49980563	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00330593401085533	0.172
18	47506934	A	C	18	49980564	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.75664527121358E-4	0.052
18	47506934	A	G	18	49980564	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.15678303850516E-5	0.002
18	47506934	A	T	18	49980564	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.11678712599963E-4	0.042
18	47506935	A	C	18	49980565	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.69669205940411E-4	0.012
18	47506935	A	G	18	49980565	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.76758101015113E-5	0.0
18	47506935	A	T	18	49980565	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.34371715987912E-4	0.074
18	47511080	C	A	18	49984710	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.15708317718252E-4	0.006
18	47511080	C	G	18	49984710	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.94413473274449E-5	0.006
18	47511080	C	T	18	49984710	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.1941086726686E-4	0.004
18	47511081	T	A	18	49984711	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.585416616557E-5	0.0
18	47511081	T	C	18	49984711	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.15941453541388E-5	0.004
18	47511081	T	G	18	49984711	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.30477579161392E-5	0.0
18	47511082	C	A	18	49984712	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.73887718748072E-5	0.002
18	47511082	C	G	18	49984712	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.73301471960382E-5	0.004
18	47511082	C	T	18	49984712	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.54680957393796E-5	0.0
18	47511083	C	A	18	49984713	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999761520246332	0.904
18	47511083	C	G	18	49984713	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999730227514947	0.946
18	47511083	C	T	18	49984713	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999541032504659	0.91
18	47511084	T	A	18	49984714	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.538284628493411	0.544
18	47511084	T	C	18	49984714	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.876577028924204	0.74
18	47511084	T	G	18	49984714	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.389060997679832	0.498
18	47511085	T	A	18	49984715	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99940816389171	0.776
18	47511085	T	C	18	49984715	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.66766518784098E-4	0.062
18	47511085	T	G	18	49984715	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997168564059306	0.862
18	47511086	A	C	18	49984716	y	y	splicing	MYO5B(NM_001080467:exon9:c.946+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.946+2T>G)	.	.	0.99994568797423	0.944
18	47511086	A	G	18	49984716	y	y	splicing	MYO5B(NM_001080467:exon9:c.946+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.946+2T>C)	.	.	0.999546486934275	0.904
18	47511086	A	T	18	49984716	y	y	splicing	MYO5B(NM_001080467:exon9:c.946+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.946+2T>A)	.	.	0.99994568797423	0.938
18	47511087	C	A	18	49984717	y	y	splicing	MYO5B(NM_001080467:exon9:c.946+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.946+1G>T)	.	.	0.999938422912956	0.942
18	47511087	C	G	18	49984717	y	y	splicing	MYO5B(NM_001080467:exon9:c.946+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.946+1G>C)	.	.	0.999938422912956	0.942
18	47511087	C	T	18	49984717	y	y	splicing	MYO5B(NM_001080467:exon9:c.946+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.946+1G>A)	.	.	0.999938422912956	0.932
18	47511088	C	A	18	49984718	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon8:c.G946T:p.G316X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon8:c.G946T:p.G316X;	0.999990787044304	0.984
18	47511088	C	G	18	49984718	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon8:c.G946C:p.G316R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.G946C:p.G316R;	0.999992143085625	0.988
18	47511088	C	T	18	49984718	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon8:c.G946A:p.G316R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.G946A:p.G316R;	0.999984856979032	0.998
18	47511089	G	A	18	49984719	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon8:c.C945T:p.L315L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.C945T:p.L315L;	1.83054915791028E-4	0.174
18	47511089	G	C	18	49984719	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon8:c.C945G:p.L315L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.C945G:p.L315L;	1.27797206293412E-4	0.058
18	47511089	G	T	18	49984719	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon8:c.C945A:p.L315L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.C945A:p.L315L;	1.38591338952295E-4	0.258
18	47511090	A	C	18	49984720	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon8:c.T944G:p.L315R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.T944G:p.L315R;	0.56748743569492	0.584
18	47511090	A	G	18	49984720	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon8:c.T944C:p.L315P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.T944C:p.L315P;	0.361627920987208	0.414
18	47511090	A	T	18	49984720	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon8:c.T944A:p.L315H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.T944A:p.L315H;	0.440314413976925	0.544
18	47511194	T	A	18	49984824	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon8:c.A840T:p.T280T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.A840T:p.T280T;	6.00529829865224E-6	0.0
18	47511194	T	C	18	49984824	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon8:c.A840G:p.T280T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.A840G:p.T280T;	1.95856443763599E-5	0.014
18	47511194	T	G	18	49984824	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon8:c.A840C:p.T280T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.A840C:p.T280T;	1.66392519527936E-5	0.0
18	47511195	G	A	18	49984825	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon8:c.C839T:p.T280I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.C839T:p.T280I;	0.230929404531861	0.388
18	47511195	G	C	18	49984825	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon8:c.C839G:p.T280R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.C839G:p.T280R;	0.00228227496273063	0.072
18	47511195	G	T	18	49984825	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon8:c.C839A:p.T280K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon8:c.C839A:p.T280K;	0.00187830378953031	0.02
18	47511196	C	A	18	49984826	y	y	splicing	MYO5B(NM_001080467:exon9:c.839-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.839-1G>T)	.	.	0.999938422912956	0.94
18	47511196	C	G	18	49984826	y	y	splicing	MYO5B(NM_001080467:exon9:c.839-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.839-1G>C)	.	.	0.999938422912956	0.952
18	47511196	C	T	18	49984826	y	y	splicing	MYO5B(NM_001080467:exon9:c.839-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.839-1G>A)	.	.	0.999938422912956	0.938
18	47511197	T	A	18	49984827	y	y	splicing	MYO5B(NM_001080467:exon9:c.839-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.839-2A>T)	.	.	0.99994568797423	0.95
18	47511197	T	C	18	49984827	y	y	splicing	MYO5B(NM_001080467:exon9:c.839-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.839-2A>G)	.	.	0.99994568797423	0.958
18	47511197	T	G	18	49984827	y	y	splicing	MYO5B(NM_001080467:exon9:c.839-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon9:c.839-2A>C)	.	.	0.99994568797423	0.958
18	47511198	G	A	18	49984828	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00760520233378739	0.18
18	47511198	G	C	18	49984828	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999981759412215	0.902
18	47511198	G	T	18	49984828	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.971730897112752	0.832
18	47511199	T	A	18	49984829	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00133960951202894	0.052
18	47511199	T	C	18	49984829	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.08519893513915E-4	0.164
18	47511199	T	G	18	49984829	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.42216242562412E-4	0.05
18	47511200	G	A	18	49984830	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.09861358108566E-5	0.0
18	47511200	G	C	18	49984830	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00110691942486454	0.154
18	47511200	G	T	18	49984830	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.24625917211598E-4	0.066
18	47511201	G	A	18	49984831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.65679901557068E-4	0.028
18	47511201	G	C	18	49984831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.116199531715463	0.274
18	47511201	G	T	18	49984831	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0964269304116633	0.26
18	47511202	G	A	18	49984832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.41940873304895E-5	0.006
18	47511202	G	C	18	49984832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.2938842984218E-4	0.09
18	47511202	G	T	18	49984832	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.77703385049396E-4	0.066
18	47511203	A	C	18	49984833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.77294523571221E-4	0.034
18	47511203	A	G	18	49984833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.41415983290465E-6	0.004
18	47511203	A	T	18	49984833	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.94213949064374E-4	0.054
18	47511204	G	A	18	49984834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.90957543035712E-4	0.008
18	47511204	G	C	18	49984834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00635480301248828	0.124
18	47511204	G	T	18	49984834	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0074666273990819	0.106
18	47511205	G	A	18	49984835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.13038890677477E-5	0.0
18	47511205	G	C	18	49984835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.02319986543068E-4	0.058
18	47511205	G	T	18	49984835	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.42308958577366E-4	0.056
18	47511206	C	A	18	49984836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.39896278290703E-5	0.008
18	47511206	C	G	18	49984836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.42118356446576E-5	0.012
18	47511206	C	T	18	49984836	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.47658466852754E-5	0.002
18	47511207	G	A	18	49984837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.44836532591807E-5	0.0
18	47511207	G	C	18	49984837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.55472571502903E-4	0.036
18	47511207	G	T	18	49984837	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999588613335846	0.982
18	47516801	T	A	18	49990431	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.45992055671961E-5	0.002
18	47516801	T	C	18	49990431	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.58915390719906E-5	0.002
18	47516801	T	G	18	49990431	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.45992055671961E-5	0.002
18	47516802	G	A	18	49990432	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.3427982531725E-5	0.0
18	47516802	G	C	18	49990432	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.3427982531725E-5	0.0
18	47516802	G	T	18	49990432	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.35857241577815E-4	0.004
18	47516803	A	C	18	49990433	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.312095934244495	0.434
18	47516803	A	G	18	49990433	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0959120515955949	0.286
18	47516803	A	T	18	49990433	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.278830260533106	0.402
18	47516804	C	A	18	49990434	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999961012647315	0.932
18	47516804	C	G	18	49990434	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999957952091634	0.968
18	47516804	C	T	18	49990434	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999853024467989	0.888
18	47516805	T	A	18	49990435	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.968217731942442	0.544
18	47516805	T	C	18	49990435	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.978285553642823	0.658
18	47516805	T	G	18	49990435	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.626025492287974	0.52
18	47516806	T	A	18	49990436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999034741098114	0.762
18	47516806	T	C	18	49990436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00194150791691953	0.118
18	47516806	T	G	18	49990436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999804699454696	0.894
18	47516807	A	C	18	49990437	y	y	splicing	MYO5B(NM_001080467:exon8:c.838+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.838+2T>G)	.	.	0.999966514958823	0.946
18	47516807	A	G	18	49990437	y	y	splicing	MYO5B(NM_001080467:exon8:c.838+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.838+2T>C)	.	.	0.966061746653779	0.604
18	47516807	A	T	18	49990437	y	y	splicing	MYO5B(NM_001080467:exon8:c.838+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.838+2T>A)	.	.	0.999966203349492	0.944
18	47516808	C	A	18	49990438	y	y	splicing	MYO5B(NM_001080467:exon8:c.838+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.838+1G>T)	.	.	0.999938422912956	0.948
18	47516808	C	G	18	49990438	y	y	splicing	MYO5B(NM_001080467:exon8:c.838+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.838+1G>C)	.	.	0.999938422912956	0.948
18	47516808	C	T	18	49990438	y	y	splicing	MYO5B(NM_001080467:exon8:c.838+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.838+1G>A)	.	.	0.999938422912956	0.944
18	47516809	T	A	18	49990439	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.A838T:p.T280S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.A838T:p.T280S;	2.71398818586982E-4	0.038
18	47516809	T	C	18	49990439	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.A838G:p.T280A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.A838G:p.T280A;	1.10374997684407E-4	0.114
18	47516809	T	G	18	49990439	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.A838C:p.T280P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.A838C:p.T280P;	2.6166508024095E-4	0.028
18	47516810	T	A	18	49990440	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon7:c.A837T:p.L279L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.A837T:p.L279L;	0.11227142846789	0.562
18	47516810	T	C	18	49990440	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon7:c.A837G:p.L279L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.A837G:p.L279L;	0.0289784825606228	0.482
18	47516810	T	G	18	49990440	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon7:c.A837C:p.L279L;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.A837C:p.L279L;	0.117243685928648	0.608
18	47516811	A	C	18	49990441	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.T836G:p.L279R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.T836G:p.L279R;	0.24185982889101	0.618
18	47516811	A	G	18	49990441	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.T836C:p.L279P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.T836C:p.L279P;	0.0562102810050273	0.422
18	47516811	A	T	18	49990441	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.T836A:p.L279Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.T836A:p.L279Q;	0.208458607187368	0.506
18	47516889	G	A	18	49990519	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.C758T:p.A253V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.C758T:p.A253V;	0.911753143974213	0.82
18	47516889	G	C	18	49990519	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.C758G:p.A253G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.C758G:p.A253G;	0.908512226229212	0.736
18	47516889	G	T	18	49990519	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.C758A:p.A253E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.C758A:p.A253E;	0.953329615979909	0.778
18	47516890	C	A	18	49990520	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.G757T:p.A253S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.G757T:p.A253S;	0.99615757072576	0.94
18	47516890	C	G	18	49990520	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.G757C:p.A253P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.G757C:p.A253P;	0.997368219740432	0.918
18	47516890	C	T	18	49990520	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon7:c.G757A:p.A253T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon7:c.G757A:p.A253T;	0.9891445511326	0.816
18	47516891	C	A	18	49990521	y	y	splicing	MYO5B(NM_001080467:exon8:c.757-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.757-1G>T)	.	.	0.999938990645747	0.948
18	47516891	C	G	18	49990521	y	y	splicing	MYO5B(NM_001080467:exon8:c.757-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.757-1G>C)	.	.	0.999938990645747	0.944
18	47516891	C	T	18	49990521	y	y	splicing	MYO5B(NM_001080467:exon8:c.757-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.757-1G>A)	.	.	0.999938990645747	0.948
18	47516892	T	A	18	49990522	y	y	splicing	MYO5B(NM_001080467:exon8:c.757-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.757-2A>T)	.	.	0.999966514958823	0.938
18	47516892	T	C	18	49990522	y	y	splicing	MYO5B(NM_001080467:exon8:c.757-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.757-2A>G)	.	.	0.999978156327223	0.934
18	47516892	T	G	18	49990522	y	y	splicing	MYO5B(NM_001080467:exon8:c.757-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon8:c.757-2A>C)	.	.	0.999978156327223	0.934
18	47516893	G	A	18	49990523	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.11202119140496E-4	0.02
18	47516893	G	C	18	49990523	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.964527378356856	0.83
18	47516893	G	T	18	49990523	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.203249156509745	0.434
18	47516894	G	A	18	49990524	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.07727420643279E-5	0.074
18	47516894	G	C	18	49990524	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.24602849434682E-5	0.044
18	47516894	G	T	18	49990524	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.64103148413592E-5	0.048
18	47516895	A	C	18	49990525	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.58806522340028E-4	0.14
18	47516895	A	G	18	49990525	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.48344564313574E-5	0.016
18	47516895	A	T	18	49990525	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.06706935591662E-4	0.106
18	47516896	G	A	18	49990526	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.25968260088636E-5	0.012
18	47516896	G	C	18	49990526	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00103162326013593	0.172
18	47516896	G	T	18	49990526	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.02704858556289E-4	0.24
18	47516897	G	A	18	49990527	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.2711777596982E-5	0.016
18	47516897	G	C	18	49990527	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.51615654349996E-4	0.124
18	47516897	G	T	18	49990527	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.82780305020472E-4	0.122
18	47516898	A	C	18	49990528	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.00481549148625E-5	0.014
18	47516898	A	G	18	49990528	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.06017479955991E-5	0.0
18	47516898	A	T	18	49990528	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.11994659222532E-5	0.012
18	47516899	G	A	18	49990529	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.09434580664128E-5	0.042
18	47516899	G	C	18	49990529	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.69217020132022E-5	0.03
18	47516899	G	T	18	49990529	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.05844849958465E-4	0.07
18	47516900	G	A	18	49990530	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.33746568468665E-5	0.006
18	47516900	G	C	18	49990530	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.45639113126954E-4	0.05
18	47516900	G	T	18	49990530	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.81380948281986E-4	0.044
18	47516901	A	C	18	49990531	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.45926250459417E-4	0.134
18	47516901	A	G	18	49990531	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.31994753636396E-4	0.064
18	47516901	A	T	18	49990531	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00200498863500085	0.198
18	47516902	A	C	18	49990532	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.34352622592563E-4	0.046
18	47516902	A	G	18	49990532	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.31010080278108E-4	0.002
18	47516902	A	T	18	49990532	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.40420161955061E-4	0.152
18	47518650	C	A	18	49992280	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.07014835428848E-5	0.004
18	47518650	C	G	18	49992280	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.95815540499835E-5	0.0
18	47518650	C	T	18	49992280	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.07014835428848E-5	0.0
18	47518651	C	A	18	49992281	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.77109886147231E-5	0.004
18	47518651	C	G	18	49992281	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.49790470718197E-5	0.0
18	47518651	C	T	18	49992281	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.49790470718197E-5	0.0
18	47518652	A	C	18	49992282	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.52923962437463E-4	0.038
18	47518652	A	G	18	49992282	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00214021823663702	0.068
18	47518652	A	T	18	49992282	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00162848653882743	0.026
18	47518653	C	A	18	49992283	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999856837117344	0.902
18	47518653	C	G	18	49992283	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999716890701356	0.878
18	47518653	C	T	18	49992283	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999934386221407	0.952
18	47518654	T	A	18	49992284	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.993577740672252	0.814
18	47518654	T	C	18	49992284	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.986172888327902	0.668
18	47518654	T	G	18	49992284	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.846044947119282	0.624
18	47518655	C	A	18	49992285	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.459310528335702	0.484
18	47518655	C	G	18	49992285	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.712381752132981	0.564
18	47518655	C	T	18	49992285	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.62799958843523E-4	0.038
18	47518656	A	C	18	49992286	y	y	splicing	MYO5B(NM_001080467:exon7:c.756+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.756+2T>G)	.	.	0.999988247793601	0.932
18	47518656	A	G	18	49992286	y	y	splicing	MYO5B(NM_001080467:exon7:c.756+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.756+2T>C)	.	.	0.999929727175276	0.866
18	47518656	A	T	18	49992286	y	y	splicing	MYO5B(NM_001080467:exon7:c.756+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.756+2T>A)	.	.	0.999988247793601	0.932
18	47518657	C	A	18	49992287	y	y	splicing	MYO5B(NM_001080467:exon7:c.756+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.756+1G>T)	.	.	0.999990361384395	0.938
18	47518657	C	G	18	49992287	y	y	splicing	MYO5B(NM_001080467:exon7:c.756+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.756+1G>C)	.	.	0.999990361384395	0.938
18	47518657	C	T	18	49992287	y	y	splicing	MYO5B(NM_001080467:exon7:c.756+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.756+1G>A)	.	.	0.999990361384395	0.938
18	47518658	C	A	18	49992288	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.G756T:p.Q252H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.G756T:p.Q252H;	0.999861514960548	0.948
18	47518658	C	G	18	49992288	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.G756C:p.Q252H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.G756C:p.Q252H;	0.999966330111735	0.964
18	47518658	C	T	18	49992288	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon6:c.G756A:p.Q252Q;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.G756A:p.Q252Q;	0.999901613800315	0.964
18	47518659	T	A	18	49992289	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.A755T:p.Q252L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.A755T:p.Q252L;	0.996589784691829	0.8
18	47518659	T	C	18	49992289	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.A755G:p.Q252R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.A755G:p.Q252R;	0.994899945648389	0.956
18	47518659	T	G	18	49992289	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.A755C:p.Q252P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.A755C:p.Q252P;	0.991713459341597	0.822
18	47518660	G	A	18	49992290	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon6:c.C754T:p.Q252X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon6:c.C754T:p.Q252X;	0.998012884132283	0.764
18	47518660	G	C	18	49992290	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.C754G:p.Q252E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.C754G:p.Q252E;	0.929521433875397	0.608
18	47518660	G	T	18	49992290	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.C754A:p.Q252K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.C754A:p.Q252K;	0.970138450969	0.826
18	47518800	G	A	18	49992430	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.C614T:p.A205V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.C614T:p.A205V;	0.984459528244975	0.78
18	47518800	G	C	18	49992430	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.C614G:p.A205G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.C614G:p.A205G;	0.993263984144102	0.716
18	47518800	G	T	18	49992430	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.C614A:p.A205D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.C614A:p.A205D;	0.992000375418056	0.762
18	47518801	C	A	18	49992431	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.G613T:p.A205S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.G613T:p.A205S;	0.999905817747715	0.978
18	47518801	C	G	18	49992431	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.G613C:p.A205P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.G613C:p.A205P;	0.99977629067246	0.966
18	47518801	C	T	18	49992431	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon6:c.G613A:p.A205T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon6:c.G613A:p.A205T;	0.999653839531265	0.826
18	47518802	C	A	18	49992432	y	y	splicing	MYO5B(NM_001080467:exon7:c.613-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.613-1G>T)	.	.	0.99995545544995	0.956
18	47518802	C	G	18	49992432	y	y	splicing	MYO5B(NM_001080467:exon7:c.613-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.613-1G>C)	.	.	0.99995586615188	0.956
18	47518802	C	T	18	49992432	y	y	splicing	MYO5B(NM_001080467:exon7:c.613-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.613-1G>A)	.	.	0.99995545544995	0.956
18	47518803	T	A	18	49992433	y	y	splicing	MYO5B(NM_001080467:exon7:c.613-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.613-2A>T)	.	.	0.999946188727699	0.96
18	47518803	T	C	18	49992433	y	y	splicing	MYO5B(NM_001080467:exon7:c.613-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.613-2A>G)	.	.	0.999946188727699	0.958
18	47518803	T	G	18	49992433	y	y	splicing	MYO5B(NM_001080467:exon7:c.613-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon7:c.613-2A>C)	.	.	0.999946188727699	0.958
18	47518804	G	A	18	49992434	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.03933173016461E-4	0.042
18	47518804	G	C	18	49992434	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998999919671219	0.892
18	47518804	G	T	18	49992434	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.708930629483143	0.624
18	47518805	C	A	18	49992435	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.62689194683374E-5	0.004
18	47518805	C	G	18	49992435	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.93993947054067E-5	0.0
18	47518805	C	T	18	49992435	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.52259414789432E-5	0.0
18	47518806	A	C	18	49992436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0149859670389802	0.304
18	47518806	A	G	18	49992436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.87962517893833E-5	0.018
18	47518806	A	T	18	49992436	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.915970434351692	0.616
18	47518807	C	A	18	49992437	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.27219349862041E-5	0.004
18	47518807	C	G	18	49992437	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.00131894528275E-5	0.016
18	47518807	C	T	18	49992437	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.29370958779814E-5	0.006
18	47518808	A	C	18	49992438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.30070557119206E-4	0.076
18	47518808	A	G	18	49992438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.26911835442695E-5	0.018
18	47518808	A	T	18	49992438	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.970800750589308	0.792
18	47518809	G	A	18	49992439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.55924286749975E-5	0.0
18	47518809	G	C	18	49992439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00311087623535803	0.08
18	47518809	G	T	18	49992439	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00203907257380876	0.122
18	47518810	A	C	18	49992440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0761055747106626	0.278
18	47518810	A	G	18	49992440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.2925299743947E-4	0.026
18	47518810	A	T	18	49992440	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0248696338433963	0.282
18	47518811	C	A	18	49992441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.40003685882898E-5	0.014
18	47518811	C	G	18	49992441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.39210010718104E-5	0.0
18	47518811	C	T	18	49992441	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.40264453184556E-4	0.014
18	47518812	C	A	18	49992442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.2440639371149E-5	0.02
18	47518812	C	G	18	49992442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.2440639371149E-5	0.012
18	47518812	C	T	18	49992442	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999528573443806	0.968
18	47518813	A	C	18	49992443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0272955060888065	0.338
18	47518813	A	G	18	49992443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0087892936740277	0.096
18	47518813	A	T	18	49992443	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999820244610674	0.99
18	47527617	G	A	18	50001247	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.30401387676037E-4	0.006
18	47527617	G	C	18	50001247	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.29505761586408E-4	0.028
18	47527617	G	T	18	50001247	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.2926059443187E-4	0.016
18	47527618	G	A	18	50001248	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00287172883013032	0.186
18	47527618	G	C	18	50001248	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.47725793517367E-4	0.036
18	47527618	G	T	18	50001248	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.41869574448387E-4	0.008
18	47527619	C	A	18	50001249	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.920666198522091	0.572
18	47527619	C	G	18	50001249	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.974786420724732	0.716
18	47527619	C	T	18	50001249	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.985078742489419	0.65
18	47527620	T	A	18	50001250	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.21045627190642E-4	0.094
18	47527620	T	C	18	50001250	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.191300696236E-4	0.15
18	47527620	T	G	18	50001250	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.59449074979975E-4	0.154
18	47527621	T	A	18	50001251	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.87909991303064	0.462
18	47527621	T	C	18	50001251	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.993974845611614	0.808
18	47527621	T	G	18	50001251	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.808983987247833	0.464
18	47527622	T	A	18	50001252	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999928524282777	0.984
18	47527622	T	C	18	50001252	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998857691243763	0.986
18	47527622	T	G	18	50001252	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999928524282777	0.986
18	47527623	A	C	18	50001253	y	y	splicing	MYO5B(NM_001080467:exon6:c.612+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.612+2T>G)	.	.	0.999989917668626	0.946
18	47527623	A	G	18	50001253	y	y	splicing	MYO5B(NM_001080467:exon6:c.612+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.612+2T>C)	.	.	0.993179459523591	0.65
18	47527623	A	T	18	50001253	y	y	splicing	MYO5B(NM_001080467:exon6:c.612+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.612+2T>A)	.	.	0.999989917668626	0.946
18	47527624	C	A	18	50001254	y	y	splicing	MYO5B(NM_001080467:exon6:c.612+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.612+1G>T)	.	.	0.999981760802075	0.948
18	47527624	C	G	18	50001254	y	y	splicing	MYO5B(NM_001080467:exon6:c.612+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.612+1G>C)	.	.	0.999981760802075	0.948
18	47527624	C	T	18	50001254	y	y	splicing	MYO5B(NM_001080467:exon6:c.612+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.612+1G>A)	.	.	0.999981760802075	0.948
18	47527625	C	A	18	50001255	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.G612T:p.E204D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.G612T:p.E204D;	0.999987469944553	1.0
18	47527625	C	G	18	50001255	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.G612C:p.E204D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.G612C:p.E204D;	0.99999706064642	1.0
18	47527625	C	T	18	50001255	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon5:c.G612A:p.E204E;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.G612A:p.E204E;	0.999990276394208	1.0
18	47527626	T	A	18	50001256	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.A611T:p.E204V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.A611T:p.E204V;	0.999880282781911	0.982
18	47527626	T	C	18	50001256	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.A611G:p.E204G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.A611G:p.E204G;	0.999916653654259	0.992
18	47527626	T	G	18	50001256	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.A611C:p.E204A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.A611C:p.E204A;	0.999893688134341	1.0
18	47527627	C	A	18	50001257	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon5:c.G610T:p.E204X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon5:c.G610T:p.E204X;	0.996834792054503	0.764
18	47527627	C	G	18	50001257	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.G610C:p.E204Q;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.G610C:p.E204Q;	0.931622487681565	0.722
18	47527627	C	T	18	50001257	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.G610A:p.E204K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.G610A:p.E204K;	0.936011441156809	0.788
18	47527780	C	A	18	50001410	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.G457T:p.D153Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.G457T:p.D153Y;	0.974077000771709	0.876
18	47527780	C	G	18	50001410	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.G457C:p.D153H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.G457C:p.D153H;	0.95673225892925	0.876
18	47527780	C	T	18	50001410	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.G457A:p.D153N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.G457A:p.D153N;	0.978541024743298	0.852
18	47527781	T	A	18	50001411	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.A456T:p.R152S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.A456T:p.R152S;	6.22983101493524E-5	0.074
18	47527781	T	C	18	50001411	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon5:c.A456G:p.R152R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.A456G:p.R152R;	7.17491315593026E-5	0.002
18	47527781	T	G	18	50001411	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon5:c.A456C:p.R152S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon5:c.A456C:p.R152S;	3.91318434989796E-5	0.094
18	47527782	C	A	18	50001412	y	y	splicing	MYO5B(NM_001080467:exon6:c.456-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.456-1G>T)	.	.	0.999981760802075	0.944
18	47527782	C	G	18	50001412	y	y	splicing	MYO5B(NM_001080467:exon6:c.456-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.456-1G>C)	.	.	0.999981760802075	0.944
18	47527782	C	T	18	50001412	y	y	splicing	MYO5B(NM_001080467:exon6:c.456-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.456-1G>A)	.	.	0.999981760802075	0.944
18	47527783	T	A	18	50001413	y	y	splicing	MYO5B(NM_001080467:exon6:c.456-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.456-2A>T)	.	.	0.999989917668626	0.928
18	47527783	T	C	18	50001413	y	y	splicing	MYO5B(NM_001080467:exon6:c.456-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.456-2A>G)	.	.	0.999989917668626	0.928
18	47527783	T	G	18	50001413	y	y	splicing	MYO5B(NM_001080467:exon6:c.456-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon6:c.456-2A>C)	.	.	0.999989917668626	0.928
18	47527784	G	A	18	50001414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0555876164764477	0.154
18	47527784	G	C	18	50001414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999932112094424	0.906
18	47527784	G	T	18	50001414	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.995052812477182	0.802
18	47527785	G	A	18	50001415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.82329412987598E-4	0.006
18	47527785	G	C	18	50001415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0010052318749748	0.008
18	47527785	G	T	18	50001415	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.87397512761842E-4	0.02
18	47527786	A	C	18	50001416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0112934078277125	0.196
18	47527786	A	G	18	50001416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.47766851545647E-4	0.024
18	47527786	A	T	18	50001416	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0151385362207992	0.192
18	47527787	A	C	18	50001417	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.326915664288649	0.234
18	47527787	A	G	18	50001417	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.41118398802463E-4	0.008
18	47527787	A	T	18	50001417	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0210527245249008	0.112
18	47527788	G	A	18	50001418	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.16074065780157E-5	0.0
18	47527788	G	C	18	50001418	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00195581880502338	0.046
18	47527788	G	T	18	50001418	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00407221277767116	0.046
18	47527789	G	A	18	50001419	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.87642641583726E-4	0.024
18	47527789	G	C	18	50001419	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00817735985405209	0.11
18	47527789	G	T	18	50001419	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00942139317776421	0.122
18	47527790	A	C	18	50001420	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.3866573826148E-4	0.046
18	47527790	A	G	18	50001420	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.16169864178351E-4	0.0
18	47527790	A	T	18	50001420	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00166670691685831	0.09
18	47527791	A	C	18	50001421	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00289500317770857	0.122
18	47527791	A	G	18	50001421	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.31099259748349E-4	0.01
18	47527791	A	T	18	50001421	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00431674148517387	0.122
18	47527792	A	C	18	50001422	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00630398042431723	0.094
18	47527792	A	G	18	50001422	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.6848734961324E-4	0.012
18	47527792	A	T	18	50001422	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00844168690501644	0.11
18	47527793	A	C	18	50001423	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00476895211956066	0.206
18	47527793	A	G	18	50001423	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.28273927987627E-4	0.044
18	47527793	A	T	18	50001423	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00630287912930578	0.214
18	47563212	A	C	18	50036842	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.93155059641168E-5	0.0
18	47563212	A	G	18	50036842	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.49849674438749E-5	0.0
18	47563212	A	T	18	50036842	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.49849674438749E-5	0.0
18	47563213	T	A	18	50036843	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.56761197235683E-4	0.062
18	47563213	T	C	18	50036843	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.52468154812682E-4	0.002
18	47563213	T	G	18	50036843	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.35620722818417E-5	0.002
18	47563214	T	A	18	50036844	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.06302358017848E-5	0.01
18	47563214	T	C	18	50036844	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.05055294824453E-5	0.002
18	47563214	T	G	18	50036844	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.92626810764051E-4	0.03
18	47563215	C	A	18	50036845	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999643765917263	0.896
18	47563215	C	G	18	50036845	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999884607143379	0.9
18	47563215	C	T	18	50036845	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999975378278878	0.946
18	47563216	T	A	18	50036846	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99254771218753	0.66
18	47563216	T	C	18	50036846	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.819740253145747	0.636
18	47563216	T	G	18	50036846	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.619334727935981	0.49
18	47563217	C	A	18	50036847	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.209276192547292	0.354
18	47563217	C	G	18	50036847	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.201001588697999	0.258
18	47563217	C	T	18	50036847	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.31035412960139E-5	0.006
18	47563218	A	C	18	50036848	y	y	splicing	MYO5B(NM_001080467:exon5:c.455+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.455+2T>G)	.	.	0.999988247793601	0.93
18	47563218	A	G	18	50036848	y	y	splicing	MYO5B(NM_001080467:exon5:c.455+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.455+2T>C)	.	.	0.999929727175276	0.862
18	47563218	A	T	18	50036848	y	y	splicing	MYO5B(NM_001080467:exon5:c.455+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.455+2T>A)	.	.	0.999988247793601	0.93
18	47563219	C	A	18	50036849	y	y	splicing	MYO5B(NM_001080467:exon5:c.455+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.455+1G>T)	.	.	0.999990361384395	0.938
18	47563219	C	G	18	50036849	y	y	splicing	MYO5B(NM_001080467:exon5:c.455+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.455+1G>C)	.	.	0.999990361384395	0.938
18	47563219	C	T	18	50036849	y	y	splicing	MYO5B(NM_001080467:exon5:c.455+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.455+1G>A)	.	.	0.999990361384395	0.938
18	47563220	C	A	18	50036850	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon4:c.G455T:p.R152I;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.G455T:p.R152I;	0.999985007705141	1.0
18	47563220	C	G	18	50036850	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon4:c.G455C:p.R152T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.G455C:p.R152T;	0.999997734432473	0.992
18	47563220	C	T	18	50036850	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon4:c.G455A:p.R152K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.G455A:p.R152K;	0.999988189994757	0.992
18	47563221	T	A	18	50036851	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon4:c.A454T:p.R152X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon4:c.A454T:p.R152X;	0.999619331452869	0.966
18	47563221	T	C	18	50036851	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon4:c.A454G:p.R152G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.A454G:p.R152G;	0.999595300680136	0.99
18	47563221	T	G	18	50036851	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon4:c.A454C:p.R152R;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.A454C:p.R152R;	0.972730653868633	0.95
18	47563222	G	A	18	50036852	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon4:c.C453T:p.A151A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.C453T:p.A151A;	0.992858485637678	0.79
18	47563222	G	C	18	50036852	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon4:c.C453G:p.A151A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.C453G:p.A151A;	0.679404807515653	0.57
18	47563222	G	T	18	50036852	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon4:c.C453A:p.A151A;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.C453A:p.A151A;	0.781701730216668	0.568
18	47563363	A	C	18	50036993	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon4:c.T312G:p.G104G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.T312G:p.G104G;	0.00177263632028845	0.03
18	47563363	A	G	18	50036993	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon4:c.T312C:p.G104G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.T312C:p.G104G;	0.00177263632028845	0.05
18	47563363	A	T	18	50036993	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon4:c.T312A:p.G104G;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.T312A:p.G104G;	3.51214915737236E-4	0.004
18	47563364	C	A	18	50036994	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon4:c.G311T:p.G104V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.G311T:p.G104V;	0.999824028869155	0.99
18	47563364	C	G	18	50036994	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon4:c.G311C:p.G104A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.G311C:p.G104A;	0.999834546719908	0.976
18	47563364	C	T	18	50036994	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon4:c.G311A:p.G104D;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon4:c.G311A:p.G104D;	0.998922210683742	0.856
18	47563365	C	A	18	50036995	y	y	splicing	MYO5B(NM_001080467:exon5:c.311-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.311-1G>T)	.	.	0.999990361384395	0.938
18	47563365	C	G	18	50036995	y	y	splicing	MYO5B(NM_001080467:exon5:c.311-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.311-1G>C)	.	.	0.999990361384395	0.938
18	47563365	C	T	18	50036995	y	y	splicing	MYO5B(NM_001080467:exon5:c.311-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.311-1G>A)	.	.	0.999990361384395	0.938
18	47563366	T	A	18	50036996	y	y	splicing	MYO5B(NM_001080467:exon5:c.311-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.311-2A>T)	.	.	0.999988247793601	0.932
18	47563366	T	C	18	50036996	y	y	splicing	MYO5B(NM_001080467:exon5:c.311-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.311-2A>G)	.	.	0.999988247793601	0.932
18	47563366	T	G	18	50036996	y	y	splicing	MYO5B(NM_001080467:exon5:c.311-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon5:c.311-2A>C)	.	.	0.999988247793601	0.932
18	47563367	G	A	18	50036997	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.220215243085186	0.3
18	47563367	G	C	18	50036997	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999675892130405	0.952
18	47563367	G	T	18	50036997	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.436975422632946	0.564
18	47563368	C	A	18	50036998	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.703396334697E-4	0.004
18	47563368	C	G	18	50036998	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.80695554227854E-4	0.01
18	47563368	C	T	18	50036998	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.11971301592123E-4	0.012
18	47563369	A	C	18	50036999	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.138076723023742	0.362
18	47563369	A	G	18	50036999	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.92266210095978E-4	0.012
18	47563369	A	T	18	50036999	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999305354796529	0.79
18	47563370	A	C	18	50037000	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.245789786932402	0.474
18	47563370	A	G	18	50037000	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.46499777278863E-4	0.006
18	47563370	A	T	18	50037000	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.212545661916918	0.478
18	47563371	A	C	18	50037001	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.69286523655688	0.402
18	47563371	A	G	18	50037001	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.59264498802624E-4	0.012
18	47563371	A	T	18	50037001	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.727893712154179	0.544
18	47563372	C	A	18	50037002	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.8515694099229E-5	0.0
18	47563372	C	G	18	50037002	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.53569341504908E-5	0.004
18	47563372	C	T	18	50037002	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.47120182875737E-4	0.004
18	47563373	A	C	18	50037003	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999216344974547	0.922
18	47563373	A	G	18	50037003	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.434179782520722	0.478
18	47563373	A	T	18	50037003	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999985603425591	0.958
18	47563374	G	A	18	50037004	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00116231199786054	0.096
18	47563374	G	C	18	50037004	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0067779433811284	0.072
18	47563374	G	T	18	50037004	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00885532958804882	0.124
18	47563375	A	C	18	50037005	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.945039308478362	0.632
18	47563375	A	G	18	50037005	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0111428852213101	0.16
18	47563375	A	T	18	50037005	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.929389302204342	0.722
18	47563376	C	A	18	50037006	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.15674020195169E-6	0.048
18	47563376	C	G	18	50037006	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.09333486442525E-5	0.04
18	47563376	C	T	18	50037006	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.46259951142138E-5	0.088
18	47566505	C	A	18	50040135	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.68961399967224E-5	0.002
18	47566505	C	G	18	50040135	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.68961399967224E-5	0.008
18	47566505	C	T	18	50040135	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.68961399967224E-5	0.002
18	47566506	C	A	18	50040136	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.02766321354153E-5	0.0
18	47566506	C	G	18	50040136	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.08734463344448E-5	0.0
18	47566506	C	T	18	50040136	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.08734463344448E-5	0.0
18	47566507	A	C	18	50040137	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0045840198431339	0.102
18	47566507	A	G	18	50040137	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0554160244071142	0.176
18	47566507	A	T	18	50040137	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0278449323302765	0.158
18	47566508	C	A	18	50040138	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999934948969265	0.928
18	47566508	C	G	18	50040138	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999815115187335	0.876
18	47566508	C	T	18	50040138	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999887044009814	0.968
18	47566509	T	A	18	50040139	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.994828161781612	0.81
18	47566509	T	C	18	50040139	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99567503965993	0.796
18	47566509	T	G	18	50040139	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.992158845352338	0.744
18	47566510	T	A	18	50040140	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.987649038448622	0.724
18	47566510	T	C	18	50040140	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0159994776360929	0.178
18	47566510	T	G	18	50040140	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.987611271402102	0.768
18	47566511	A	C	18	50040141	y	y	splicing	MYO5B(NM_001080467:exon4:c.310+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.310+2T>G)	.	.	0.999988247793601	0.93
18	47566511	A	G	18	50040141	y	y	splicing	MYO5B(NM_001080467:exon4:c.310+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.310+2T>C)	.	.	0.994359181757974	0.682
18	47566511	A	T	18	50040141	y	y	splicing	MYO5B(NM_001080467:exon4:c.310+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.310+2T>A)	.	.	0.999988247793601	0.93
18	47566512	C	A	18	50040142	y	y	splicing	MYO5B(NM_001080467:exon4:c.310+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.310+1G>T)	.	.	0.999989072007339	0.934
18	47566512	C	G	18	50040142	y	y	splicing	MYO5B(NM_001080467:exon4:c.310+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.310+1G>C)	.	.	0.999989072007339	0.934
18	47566512	C	T	18	50040142	y	y	splicing	MYO5B(NM_001080467:exon4:c.310+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.310+1G>A)	.	.	0.999989072007339	0.934
18	47566513	C	A	18	50040143	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.G310T:p.G104C;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.G310T:p.G104C;	0.999913524335012	0.958
18	47566513	C	G	18	50040143	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.G310C:p.G104R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.G310C:p.G104R;	0.999928102632227	0.98
18	47566513	C	T	18	50040143	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.G310A:p.G104S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.G310A:p.G104S;	0.99997313249674	0.962
18	47566514	A	C	18	50040144	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.T309G:p.C103W;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.T309G:p.C103W;	0.0109721863436331	0.08
18	47566514	A	G	18	50040144	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon3:c.T309C:p.C103C;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.T309C:p.C103C;	7.76396189820813E-5	0.012
18	47566514	A	T	18	50040144	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon3:c.T309A:p.C103X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon3:c.T309A:p.C103X;	0.00511501416921569	0.336
18	47566515	C	A	18	50040145	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.G308T:p.C103F;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.G308T:p.C103F;	0.986172128331205	0.888
18	47566515	C	G	18	50040145	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.G308C:p.C103S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.G308C:p.C103S;	0.957213694176391	0.778
18	47566515	C	T	18	50040145	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.G308A:p.C103Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.G308A:p.C103Y;	0.949814532875941	0.82
18	47566683	A	C	18	50040313	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.T140G:p.I47S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.T140G:p.I47S;	3.05139933551342E-4	0.178
18	47566683	A	G	18	50040313	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.T140C:p.I47T;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.T140C:p.I47T;	3.7004232515898E-4	0.052
18	47566683	A	T	18	50040313	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.T140A:p.I47N;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.T140A:p.I47N;	0.00234041305528144	0.186
18	47566684	T	A	18	50040314	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.A139T:p.I47F;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.A139T:p.I47F;	0.0134225166025119	0.214
18	47566684	T	C	18	50040314	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.A139G:p.I47V;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.A139G:p.I47V;	1.69265331910023E-4	0.002
18	47566684	T	G	18	50040314	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon3:c.A139C:p.I47L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon3:c.A139C:p.I47L;	0.0051655092393256	0.142
18	47566685	C	A	18	50040315	y	y	splicing	MYO5B(NM_001080467:exon4:c.139-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.139-1G>T)	.	.	0.999949496871441	0.932
18	47566685	C	G	18	50040315	y	y	splicing	MYO5B(NM_001080467:exon4:c.139-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.139-1G>C)	.	.	0.999949496871441	0.932
18	47566685	C	T	18	50040315	y	y	splicing	MYO5B(NM_001080467:exon4:c.139-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.139-1G>A)	.	.	0.999949496871441	0.928
18	47566686	T	A	18	50040316	y	y	splicing	MYO5B(NM_001080467:exon4:c.139-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.139-2A>T)	.	.	0.99994568797423	0.94
18	47566686	T	C	18	50040316	y	y	splicing	MYO5B(NM_001080467:exon4:c.139-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.139-2A>G)	.	.	0.99994568797423	0.946
18	47566686	T	G	18	50040316	y	y	splicing	MYO5B(NM_001080467:exon4:c.139-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon4:c.139-2A>C)	.	.	0.99994568797423	0.946
18	47566687	A	C	18	50040317	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.998929928745049	0.716
18	47566687	A	G	18	50040317	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.59527622082362E-4	0.016
18	47566687	A	T	18	50040317	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.354010220794349	0.478
18	47566688	A	C	18	50040318	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.22687388309267E-4	0.012
18	47566688	A	G	18	50040318	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.09957895598187E-5	0.0
18	47566688	A	T	18	50040318	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.15688284678652E-4	0.004
18	47566689	A	C	18	50040319	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.171786924210949	0.34
18	47566689	A	G	18	50040319	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.62566731543957E-4	0.098
18	47566689	A	T	18	50040319	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.156403575229978	0.35
18	47566690	G	A	18	50040320	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.16238650994786E-5	0.008
18	47566690	G	C	18	50040320	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00167035217802529	0.252
18	47566690	G	T	18	50040320	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00328098689023505	0.248
18	47566691	A	C	18	50040321	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0644904313031025	0.168
18	47566691	A	G	18	50040321	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.01718262538192E-5	0.01
18	47566691	A	T	18	50040321	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0561509515361538	0.182
18	47566692	C	A	18	50040322	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.50654533932131E-5	0.0
18	47566692	C	G	18	50040322	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.84259541359662E-5	0.0
18	47566692	C	T	18	50040322	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.58118592155082E-5	0.016
18	47566693	A	C	18	50040323	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.99997494891086	0.98
18	47566693	A	G	18	50040323	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00185029056373063	0.028
18	47566693	A	T	18	50040323	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999956845435623	0.982
18	47566694	T	A	18	50040324	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.47226774734786E-5	0.01
18	47566694	T	C	18	50040324	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.06708225477348E-5	0.0
18	47566694	T	G	18	50040324	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.47226774734786E-5	0.004
18	47566695	G	A	18	50040325	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.25315374893956E-5	0.0
18	47566695	G	C	18	50040325	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00176240241132343	0.068
18	47566695	G	T	18	50040325	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	9.99483152654999E-4	0.038
18	47566696	C	A	18	50040326	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.87711635375194E-5	0.0
18	47566696	C	G	18	50040326	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.07269276461887E-5	0.0
18	47566696	C	T	18	50040326	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.32504729155748E-5	0.0
18	47581630	A	C	18	50055260	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.26894108897283E-5	0.004
18	47581630	A	G	18	50055260	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.93340606550261E-6	0.0
18	47581630	A	T	18	50055260	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.26894108897283E-5	0.0
18	47581631	C	A	18	50055261	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.07301640777766E-5	0.0
18	47581631	C	G	18	50055261	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.7751025552806E-5	0.0
18	47581631	C	T	18	50055261	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.7751025552806E-5	0.0
18	47581632	T	A	18	50055262	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.03534568054288E-5	0.004
18	47581632	T	C	18	50055262	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.71536398045398E-5	0.02
18	47581632	T	G	18	50055262	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.04752549960436E-5	0.042
18	47581633	C	A	18	50055263	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.996598167277666	0.72
18	47581633	C	G	18	50055263	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.994630151669831	0.754
18	47581633	C	T	18	50055263	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.981363136731218	0.708
18	47581634	T	A	18	50055264	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.160045865601334	0.42
18	47581634	T	C	18	50055264	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.199430440405754	0.408
18	47581634	T	G	18	50055264	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.237531207199996	0.438
18	47581635	T	A	18	50055265	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.97851186605354	0.72
18	47581635	T	C	18	50055265	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00152501747253535	0.086
18	47581635	T	G	18	50055265	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.976442016805787	0.784
18	47581636	A	C	18	50055266	y	y	splicing	MYO5B(NM_001080467:exon3:c.138+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.138+2T>G)	.	.	0.999964896440643	0.936
18	47581636	A	G	18	50055266	y	y	splicing	MYO5B(NM_001080467:exon3:c.138+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.138+2T>C)	.	.	0.99977276199011	0.888
18	47581636	A	T	18	50055266	y	y	splicing	MYO5B(NM_001080467:exon3:c.138+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.138+2T>A)	.	.	0.999964896440643	0.938
18	47581637	C	A	18	50055267	y	y	splicing	MYO5B(NM_001080467:exon3:c.138+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.138+1G>T)	.	.	0.999925634414698	0.82
18	47581637	C	G	18	50055267	y	y	splicing	MYO5B(NM_001080467:exon3:c.138+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.138+1G>C)	.	.	0.999925634414698	0.82
18	47581637	C	T	18	50055267	y	y	splicing	MYO5B(NM_001080467:exon3:c.138+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.138+1G>A)	.	.	0.999925634414698	0.834
18	47581638	C	A	18	50055268	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon2:c.G138T:p.T46T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.G138T:p.T46T;	0.992201094581079	0.804
18	47581638	C	G	18	50055268	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon2:c.G138C:p.T46T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.G138C:p.T46T;	0.996236605282539	0.636
18	47581638	C	T	18	50055268	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon2:c.G138A:p.T46T;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.G138A:p.T46T;	0.969205506387769	0.768
18	47581639	G	A	18	50055269	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.C137T:p.T46M;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.C137T:p.T46M;	4.23923178338966E-4	0.112
18	47581639	G	C	18	50055269	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.C137G:p.T46R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.C137G:p.T46R;	2.05731895798859E-4	0.098
18	47581639	G	T	18	50055269	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.C137A:p.T46K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.C137A:p.T46K;	4.5001469766583E-5	0.062
18	47581640	T	A	18	50055270	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.A136T:p.T46S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.A136T:p.T46S;	0.00133818867512491	0.1
18	47581640	T	C	18	50055270	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.A136G:p.T46A;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.A136G:p.T46A;	5.40879975746017E-4	0.024
18	47581640	T	G	18	50055270	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.A136C:p.T46P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.A136C:p.T46P;	2.03087313785845E-4	0.006
18	47581747	C	A	18	50055377	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.G29T:p.C10F;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.G29T:p.C10F;	9.52774118850579E-5	0.002
18	47581747	C	G	18	50055377	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.G29C:p.C10S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.G29C:p.C10S;	5.62425488197124E-4	0.09
18	47581747	C	T	18	50055377	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.G29A:p.C10Y;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.G29A:p.C10Y;	1.94043873671004E-5	0.006
18	47581748	A	C	18	50055378	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.T28G:p.C10G;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.T28G:p.C10G;	4.04188706741285E-4	0.168
18	47581748	A	G	18	50055378	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.T28C:p.C10R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.T28C:p.C10R;	1.01450164215483E-4	0.014
18	47581748	A	T	18	50055378	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon2:c.T28A:p.C10S;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon2:c.T28A:p.C10S;	1.02636273376874E-4	0.002
18	47581749	C	A	18	50055379	y	y	splicing	MYO5B(NM_001080467:exon3:c.28-1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.28-1G>T)	.	.	0.999991412108771	0.936
18	47581749	C	G	18	50055379	y	y	splicing	MYO5B(NM_001080467:exon3:c.28-1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.28-1G>C)	.	.	0.999991412108771	0.936
18	47581749	C	T	18	50055379	y	y	splicing	MYO5B(NM_001080467:exon3:c.28-1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.28-1G>A)	.	.	0.999991412108771	0.936
18	47581750	T	A	18	50055380	y	y	splicing	MYO5B(NM_001080467:exon3:c.28-2A>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.28-2A>T)	.	.	0.999990764389106	0.934
18	47581750	T	C	18	50055380	y	y	splicing	MYO5B(NM_001080467:exon3:c.28-2A>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.28-2A>G)	.	.	0.999990764389106	0.934
18	47581750	T	G	18	50055380	y	y	splicing	MYO5B(NM_001080467:exon3:c.28-2A>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon3:c.28-2A>C)	.	.	0.999990764389106	0.934
18	47581751	G	A	18	50055381	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0753195522590547	0.118
18	47581751	G	C	18	50055381	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999942929244467	0.96
18	47581751	G	T	18	50055381	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.988192557194522	0.806
18	47581752	A	C	18	50055382	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00114625360583526	0.162
18	47581752	A	G	18	50055382	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	7.17296763660747E-5	0.07
18	47581752	A	T	18	50055382	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.31763556405723E-4	0.0
18	47581753	A	C	18	50055383	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.984837731671745	0.812
18	47581753	A	G	18	50055383	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00760109364261411	0.112
18	47581753	A	T	18	50055383	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.982399212674042	0.802
18	47581754	A	C	18	50055384	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.929705492767679	0.856
18	47581754	A	G	18	50055384	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.11191795953198E-4	0.064
18	47581754	A	T	18	50055384	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.942340938066053	0.876
18	47581755	G	A	18	50055385	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.19169262515436E-4	0.014
18	47581755	G	C	18	50055385	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00537777632023418	0.16
18	47581755	G	T	18	50055385	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00478878219652768	0.066
18	47581756	A	C	18	50055386	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.999859209650036	0.972
18	47581756	A	G	18	50055386	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00275563548180845	0.088
18	47581756	A	T	18	50055386	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.206968550710184	0.44
18	47581757	T	A	18	50055387	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.75234113632808E-5	0.176
18	47581757	T	C	18	50055387	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997027251559419	0.898
18	47581757	T	G	18	50055387	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	6.58761167245887E-5	0.088
18	47581758	T	A	18	50055388	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	8.96773828252171E-6	0.02
18	47581758	T	C	18	50055388	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	2.21530807953176E-5	0.032
18	47581758	T	G	18	50055388	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.83998151106282E-6	0.026
18	47581759	A	C	18	50055389	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.987987963841973	0.678
18	47581759	A	G	18	50055389	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0108271111201587	0.224
18	47581759	A	T	18	50055389	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.987987963841973	0.72
18	47581760	A	C	18	50055390	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.749101574113677	0.414
18	47581760	A	G	18	50055390	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	3.96264391001418E-5	0.062
18	47581760	A	T	18	50055390	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.80515516778322	0.426
18	47721129	G	A	18	50194759	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.27206776928517E-5	0.0
18	47721129	G	C	18	50194759	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.27206776928517E-5	0.0
18	47721129	G	T	18	50194759	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.27206776928517E-5	0.0
18	47721130	C	A	18	50194760	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.0012213635658267	0.02
18	47721130	C	G	18	50194760	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	5.9842263762438E-4	0.004
18	47721130	C	T	18	50194760	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.00107843969826162	0.012
18	47721131	G	A	18	50194761	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.50928107562388E-5	0.0
18	47721131	G	C	18	50194761	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.18060720299166E-4	0.026
18	47721131	G	T	18	50194761	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	1.44773575022853E-4	0.018
18	47721132	C	A	18	50194762	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.996775978576536	0.866
18	47721132	C	G	18	50194762	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.870138849916582	0.78
18	47721132	C	T	18	50194762	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.997507994829386	0.958
18	47721133	T	A	18	50194763	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.970753479551424	0.68
18	47721133	T	C	18	50194763	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.977104910577448	0.604
18	47721133	T	G	18	50194763	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.793045469302127	0.53
18	47721134	C	A	18	50194764	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.918536538564965	0.678
18	47721134	C	G	18	50194764	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	0.929549668598627	0.784
18	47721134	C	T	18	50194764	y	y	intronic	MYO5B	.	.	intronic	ENSG00000167306	.	.	4.25793157873535E-4	0.032
18	47721135	A	C	18	50194765	y	y	splicing	MYO5B(NM_001080467:exon2:c.27+2T>G)	.	.	splicing	ENSG00000167306(ENST00000285039:exon2:c.27+2T>G)	.	.	0.999960807249974	0.924
18	47721135	A	G	18	50194765	y	y	splicing	MYO5B(NM_001080467:exon2:c.27+2T>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon2:c.27+2T>C)	.	.	0.99987244574456	0.868
18	47721135	A	T	18	50194765	y	y	splicing	MYO5B(NM_001080467:exon2:c.27+2T>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon2:c.27+2T>A)	.	.	0.999960807249974	0.922
18	47721136	C	A	18	50194766	y	y	splicing	MYO5B(NM_001080467:exon2:c.27+1G>T)	.	.	splicing	ENSG00000167306(ENST00000285039:exon2:c.27+1G>T)	.	.	0.999972482390482	0.936
18	47721136	C	G	18	50194766	y	y	splicing	MYO5B(NM_001080467:exon2:c.27+1G>C)	.	.	splicing	ENSG00000167306(ENST00000285039:exon2:c.27+1G>C)	.	.	0.999972482390482	0.936
18	47721136	C	T	18	50194766	y	y	splicing	MYO5B(NM_001080467:exon2:c.27+1G>A)	.	.	splicing	ENSG00000167306(ENST00000285039:exon2:c.27+1G>A)	.	.	0.999972482390482	0.93
18	47721137	C	A	18	50194767	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon1:c.G27T:p.Q9H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon1:c.G27T:p.Q9H;	0.982064332772684	0.802
18	47721137	C	G	18	50194767	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon1:c.G27C:p.Q9H;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon1:c.G27C:p.Q9H;	0.998630144272076	0.768
18	47721137	C	T	18	50194767	y	y	exonic	MYO5B	synonymous SNV	MYO5B:NM_001080467:exon1:c.G27A:p.Q9Q;	exonic	ENSG00000167306	synonymous SNV	ENSG00000167306:ENST00000285039:exon1:c.G27A:p.Q9Q;	0.913541615827099	0.622
18	47721138	T	A	18	50194768	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon1:c.A26T:p.Q9L;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon1:c.A26T:p.Q9L;	0.0511291308452371	0.434
18	47721138	T	C	18	50194768	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon1:c.A26G:p.Q9R;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon1:c.A26G:p.Q9R;	0.0450937307415878	0.276
18	47721138	T	G	18	50194768	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon1:c.A26C:p.Q9P;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon1:c.A26C:p.Q9P;	0.0423778623704311	0.46
18	47721139	G	A	18	50194769	y	y	exonic	MYO5B	stopgain SNV	MYO5B:NM_001080467:exon1:c.C25T:p.Q9X;	exonic	ENSG00000167306	stopgain SNV	ENSG00000167306:ENST00000285039:exon1:c.C25T:p.Q9X;	0.0192770986571908	0.412
18	47721139	G	C	18	50194769	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon1:c.C25G:p.Q9E;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon1:c.C25G:p.Q9E;	8.3905032182057E-4	0.022
18	47721139	G	T	18	50194769	y	y	exonic	MYO5B	nonsynonymous SNV	MYO5B:NM_001080467:exon1:c.C25A:p.Q9K;	exonic	ENSG00000167306	nonsynonymous SNV	ENSG00000167306:ENST00000285039:exon1:c.C25A:p.Q9K;	9.2103679414164E-5	0.008
18	47753978	G	A	18	50227608	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon8:c.C1318T:p.R440C;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon8:c.C1318T:p.R440C;	0.0397339850540525	0.24
18	47753978	G	C	18	50227608	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon8:c.C1318G:p.R440G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon8:c.C1318G:p.R440G;	0.29265499596848	0.268
18	47753978	G	T	18	50227608	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon8:c.C1318A:p.R440S;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon8:c.C1318A:p.R440S;	0.020785927817301	0.086
18	47753979	T	A	18	50227609	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon8:c.A1317T:p.R439S;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon8:c.A1317T:p.R439S;	1.35768871904324E-4	0.196
18	47753979	T	C	18	50227609	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon8:c.A1317G:p.R439R;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon8:c.A1317G:p.R439R;	2.80057155319394E-4	0.078
18	47753979	T	G	18	50227609	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon8:c.A1317C:p.R439S;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon8:c.A1317C:p.R439S;	1.03737049602143E-4	0.214
18	47753980	C	A	18	50227610	y	y	splicing	CCDC11(NM_145020:exon9:c.1317-1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon9:c.1317-1G>T)	.	.	0.999982627682474	0.914
18	47753980	C	G	18	50227610	y	y	splicing	CCDC11(NM_145020:exon9:c.1317-1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon9:c.1317-1G>C)	.	.	0.999982627682474	0.914
18	47753980	C	T	18	50227610	y	y	splicing	CCDC11(NM_145020:exon9:c.1317-1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon9:c.1317-1G>A)	.	.	0.999982627682474	0.914
18	47753981	T	A	18	50227611	y	y	splicing	CCDC11(NM_145020:exon9:c.1317-2A>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon9:c.1317-2A>T)	.	.	0.999979394981131	0.92
18	47753981	T	C	18	50227611	y	y	splicing	CCDC11(NM_145020:exon9:c.1317-2A>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon9:c.1317-2A>G)	.	.	0.999979394981131	0.92
18	47753981	T	G	18	50227611	y	y	splicing	CCDC11(NM_145020:exon9:c.1317-2A>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon9:c.1317-2A>C)	.	.	0.999979394981131	0.92
18	47753982	A	C	18	50227612	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.307736926595146	0.542
18	47753982	A	G	18	50227612	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.31689037766596E-5	0.01
18	47753982	A	T	18	50227612	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0324923088790006	0.314
18	47753983	A	C	18	50227613	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.08466006251192E-4	0.058
18	47753983	A	G	18	50227613	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.04386023345426E-4	0.054
18	47753983	A	T	18	50227613	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.58657973752504E-4	0.05
18	47753984	A	C	18	50227614	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.978033800706168	0.454
18	47753984	A	G	18	50227614	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.34162858651335E-4	0.08
18	47753984	A	T	18	50227614	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.853056005833244	0.442
18	47753985	G	A	18	50227615	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.43033133525823E-5	0.006
18	47753985	G	C	18	50227615	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999456015213682	0.868
18	47753985	G	T	18	50227615	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.94249787682174E-4	0.146
18	47753986	T	A	18	50227616	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.49699939159199E-5	0.034
18	47753986	T	C	18	50227616	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.68484240026317E-4	0.012
18	47753986	T	G	18	50227616	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.19987496954594E-5	0.018
18	47753987	A	C	18	50227617	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999911683606513	0.956
18	47753987	A	G	18	50227617	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.54758016127902E-4	0.04
18	47753987	A	T	18	50227617	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00839401424539906	0.292
18	47753988	T	A	18	50227618	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.47031566204678E-4	0.146
18	47753988	T	C	18	50227618	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999733690690585	0.98
18	47753988	T	G	18	50227618	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.51527765572201E-4	0.108
18	47753989	T	A	18	50227619	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.16332198071024E-5	0.052
18	47753989	T	C	18	50227619	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.67797756623987E-4	0.046
18	47753989	T	G	18	50227619	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.71932807664E-5	0.04
18	47753990	A	C	18	50227620	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.951630033550968	0.81
18	47753990	A	G	18	50227620	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.423234486085714	0.396
18	47753990	A	T	18	50227620	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.961162225052979	0.798
18	47753991	G	A	18	50227621	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.09334876908672E-5	0.008
18	47753991	G	C	18	50227621	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00255843348170392	0.082
18	47753991	G	T	18	50227621	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00740464045064724	0.12
18	47764965	A	C	18	50238595	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.67315402954051E-5	0.0
18	47764965	A	G	18	50238595	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.78319243764964E-4	0.006
18	47764965	A	T	18	50238595	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.07977346142299E-4	0.0
18	47764966	A	C	18	50238596	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00104517557612794	0.026
18	47764966	A	G	18	50238596	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00107300703934451	0.026
18	47764966	A	T	18	50238596	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00107950842771221	0.086
18	47764967	T	A	18	50238597	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.50043960310988E-4	0.03
18	47764967	T	C	18	50238597	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.24836082450404E-5	0.002
18	47764967	T	G	18	50238597	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.83754967851331E-4	0.06
18	47764968	C	A	18	50238598	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.984635717177741	0.554
18	47764968	C	G	18	50238598	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.800694907408563	0.494
18	47764968	C	T	18	50238598	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.874378301101171	0.58
18	47764969	A	C	18	50238599	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.96702720994542E-5	0.008
18	47764969	A	G	18	50238599	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00116760223751301	0.056
18	47764969	A	T	18	50238599	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.13152206166864E-4	0.074
18	47764970	T	A	18	50238600	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999101667732178	0.87
18	47764970	T	C	18	50238600	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.987081491428825	0.826
18	47764970	T	G	18	50238600	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.989886644755753	0.916
18	47764971	A	C	18	50238601	y	y	splicing	CCDC11(NM_145020:exon8:c.1316+2T>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1316+2T>G)	.	.	0.999986607513753	0.918
18	47764971	A	G	18	50238601	y	y	splicing	CCDC11(NM_145020:exon8:c.1316+2T>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1316+2T>C)	.	.	0.989722594634724	0.58
18	47764971	A	T	18	50238601	y	y	splicing	CCDC11(NM_145020:exon8:c.1316+2T>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1316+2T>A)	.	.	0.999986607513753	0.918
18	47764972	C	A	18	50238602	y	y	splicing	CCDC11(NM_145020:exon8:c.1316+1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1316+1G>T)	.	.	0.999990361384395	0.938
18	47764972	C	G	18	50238602	y	y	splicing	CCDC11(NM_145020:exon8:c.1316+1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1316+1G>C)	.	.	0.999990361384395	0.938
18	47764972	C	T	18	50238602	y	y	splicing	CCDC11(NM_145020:exon8:c.1316+1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1316+1G>A)	.	.	0.999990361384395	0.938
18	47764973	C	A	18	50238603	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon7:c.G1316T:p.R439I;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.G1316T:p.R439I;	0.99998248037063	0.99
18	47764973	C	G	18	50238603	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon7:c.G1316C:p.R439T;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.G1316C:p.R439T;	0.999986883043938	0.998
18	47764973	C	T	18	50238603	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon7:c.G1316A:p.R439K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.G1316A:p.R439K;	0.999956624793506	1.0
18	47764974	T	A	18	50238604	y	y	exonic	CCDC11	stopgain SNV	CCDC11:NM_145020:exon7:c.A1315T:p.R439X;	exonic	ENSG00000172361	stopgain SNV	ENSG00000172361:ENST00000398545:exon7:c.A1315T:p.R439X;	0.999537559595778	0.878
18	47764974	T	C	18	50238604	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon7:c.A1315G:p.R439G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.A1315G:p.R439G;	0.997463247171934	0.878
18	47764974	T	G	18	50238604	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon7:c.A1315C:p.R439R;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.A1315C:p.R439R;	0.950895079692839	0.746
18	47764975	T	A	18	50238605	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon7:c.A1314T:p.A438A;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.A1314T:p.A438A;	0.126822163999404	0.438
18	47764975	T	C	18	50238605	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon7:c.A1314G:p.A438A;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.A1314G:p.A438A;	3.59576497008951E-4	0.012
18	47764975	T	G	18	50238605	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon7:c.A1314C:p.A438A;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.A1314C:p.A438A;	4.52825229001995E-5	0.0
18	47765074	C	A	18	50238704	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon7:c.G1215T:p.L405F;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.G1215T:p.L405F;	0.00225884761956549	0.058
18	47765074	C	G	18	50238704	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon7:c.G1215C:p.L405F;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.G1215C:p.L405F;	0.0104186964697401	0.046
18	47765074	C	T	18	50238704	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon7:c.G1215A:p.L405L;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.G1215A:p.L405L;	4.11887568280623E-4	0.042
18	47765075	A	C	18	50238705	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon7:c.T1214G:p.L405W;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.T1214G:p.L405W;	3.42347382834206E-4	0.1
18	47765075	A	G	18	50238705	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon7:c.T1214C:p.L405S;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon7:c.T1214C:p.L405S;	8.92968021579139E-4	0.036
18	47765075	A	T	18	50238705	y	y	exonic	CCDC11	stopgain SNV	CCDC11:NM_145020:exon7:c.T1214A:p.L405X;	exonic	ENSG00000172361	stopgain SNV	ENSG00000172361:ENST00000398545:exon7:c.T1214A:p.L405X;	0.00214600724101396	0.228
18	47765076	C	A	18	50238706	y	y	splicing	CCDC11(NM_145020:exon8:c.1214-1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1214-1G>T)	.	.	0.999949496871441	0.932
18	47765076	C	G	18	50238706	y	y	splicing	CCDC11(NM_145020:exon8:c.1214-1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1214-1G>C)	.	.	0.999949496871441	0.942
18	47765076	C	T	18	50238706	y	y	splicing	CCDC11(NM_145020:exon8:c.1214-1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1214-1G>A)	.	.	0.999949496871441	0.924
18	47765077	T	A	18	50238707	y	y	splicing	CCDC11(NM_145020:exon8:c.1214-2A>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1214-2A>T)	.	.	0.99994568797423	0.93
18	47765077	T	C	18	50238707	y	y	splicing	CCDC11(NM_145020:exon8:c.1214-2A>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1214-2A>G)	.	.	0.99994568797423	0.932
18	47765077	T	G	18	50238707	y	y	splicing	CCDC11(NM_145020:exon8:c.1214-2A>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon8:c.1214-2A>C)	.	.	0.99994568797423	0.932
18	47765078	A	C	18	50238708	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.994141571774919	0.678
18	47765078	A	G	18	50238708	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.33242564010904E-5	0.012
18	47765078	A	T	18	50238708	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0086045897112902	0.208
18	47765079	A	C	18	50238709	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.53708273180415E-4	0.01
18	47765079	A	G	18	50238709	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.87940707331558E-5	0.0
18	47765079	A	T	18	50238709	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.67990752121846E-5	0.002
18	47765080	G	A	18	50238710	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.48002400814016E-5	0.0
18	47765080	G	C	18	50238710	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.75607783062966E-4	0.092
18	47765080	G	T	18	50238710	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.7864693548985E-4	0.016
18	47765081	A	C	18	50238711	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00256772436774841	0.11
18	47765081	A	G	18	50238711	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.35500850502295E-5	0.0
18	47765081	A	T	18	50238711	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00199096117716466	0.064
18	47765082	A	C	18	50238712	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	9.85331221712265E-4	0.066
18	47765082	A	G	18	50238712	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.49932086626464E-4	0.002
18	47765082	A	T	18	50238712	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00198408417434391	0.18
18	47765083	A	C	18	50238713	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00306888936149914	0.158
18	47765083	A	G	18	50238713	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00244348573862472	0.064
18	47765083	A	T	18	50238713	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0152159557663675	0.306
18	47765084	A	C	18	50238714	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.8468797188019E-4	0.068
18	47765084	A	G	18	50238714	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.63642119913461E-5	0.016
18	47765084	A	T	18	50238714	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.00400054517964E-4	0.048
18	47765085	G	A	18	50238715	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.41183900212436E-5	0.0
18	47765085	G	C	18	50238715	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.49371170172412E-4	0.034
18	47765085	G	T	18	50238715	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.42160950832495E-4	0.04
18	47765086	C	A	18	50238716	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.94177233375895E-5	0.03
18	47765086	C	G	18	50238716	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.10038794915588E-5	0.004
18	47765086	C	T	18	50238716	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.94138668318554E-4	0.038
18	47765087	A	C	18	50238717	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00381966414660897	0.194
18	47765087	A	G	18	50238717	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.89733925172154E-4	0.05
18	47765087	A	T	18	50238717	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999817329913581	0.938
18	47769262	T	A	18	50242892	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.63870740523369E-4	0.002
18	47769262	T	C	18	50242892	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.63870740523369E-4	0.006
18	47769262	T	G	18	50242892	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.63870740523369E-4	0.006
18	47769263	T	A	18	50242893	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00154203819285394	0.028
18	47769263	T	C	18	50242893	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.52739382392058E-4	0.01
18	47769263	T	G	18	50242893	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.52739382392058E-4	0.01
18	47769264	C	A	18	50242894	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.44567246961622E-5	0.002
18	47769264	C	G	18	50242894	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.38854727612662E-5	0.032
18	47769264	C	T	18	50242894	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.80005365783539E-5	0.0
18	47769265	C	A	18	50242895	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999982017899587	0.968
18	47769265	C	G	18	50242895	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999981785674413	0.958
18	47769265	C	T	18	50242895	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999957371278742	0.988
18	47769266	T	A	18	50242896	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.998942151684438	0.852
18	47769266	T	C	18	50242896	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999735190149852	0.888
18	47769266	T	G	18	50242896	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.99850014195536	0.814
18	47769267	T	A	18	50242897	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999359721924916	0.942
18	47769267	T	C	18	50242897	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.91776479724062	0.59
18	47769267	T	G	18	50242897	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999359721924916	0.926
18	47769268	A	C	18	50242898	y	y	splicing	CCDC11(NM_145020:exon7:c.1213+2T>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.1213+2T>G)	.	.	0.999975493285532	0.928
18	47769268	A	G	18	50242898	y	y	splicing	CCDC11(NM_145020:exon7:c.1213+2T>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.1213+2T>C)	.	.	0.999838609642622	0.856
18	47769268	A	T	18	50242898	y	y	splicing	CCDC11(NM_145020:exon7:c.1213+2T>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.1213+2T>A)	.	.	0.999990503154465	0.928
18	47769269	C	A	18	50242899	y	y	splicing	CCDC11(NM_145020:exon7:c.1213+1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.1213+1G>T)	.	.	0.999976254090479	0.926
18	47769269	C	G	18	50242899	y	y	splicing	CCDC11(NM_145020:exon7:c.1213+1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.1213+1G>C)	.	.	0.999976254090479	0.924
18	47769269	C	T	18	50242899	y	y	splicing	CCDC11(NM_145020:exon7:c.1213+1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.1213+1G>A)	.	.	0.999976254090479	0.924
18	47769270	A	C	18	50242900	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.T1213G:p.L405V;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.T1213G:p.L405V;	0.178717343892071	0.218
18	47769270	A	G	18	50242900	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon6:c.T1213C:p.L405L;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.T1213C:p.L405L;	0.00398206389262392	0.212
18	47769270	A	T	18	50242900	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.T1213A:p.L405M;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.T1213A:p.L405M;	0.136358337821494	0.496
18	47769271	C	A	18	50242901	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.G1212T:p.K404N;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.G1212T:p.K404N;	5.79574382332709E-5	0.128
18	47769271	C	G	18	50242901	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.G1212C:p.K404N;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.G1212C:p.K404N;	5.95641998346143E-6	0.028
18	47769271	C	T	18	50242901	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon6:c.G1212A:p.K404K;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.G1212A:p.K404K;	2.09066723976428E-4	0.12
18	47769272	T	A	18	50242902	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.A1211T:p.K404M;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.A1211T:p.K404M;	0.475313636879364	0.44
18	47769272	T	C	18	50242902	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.A1211G:p.K404R;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.A1211G:p.K404R;	0.00110461759020235	0.076
18	47769272	T	G	18	50242902	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.A1211C:p.K404T;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.A1211C:p.K404T;	0.0441345792120616	0.158
18	47769485	T	A	18	50243115	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.A998T:p.E333V;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.A998T:p.E333V;	3.19428018957131E-5	0.07
18	47769485	T	C	18	50243115	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.A998G:p.E333G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.A998G:p.E333G;	6.34781929491765E-4	0.062
18	47769485	T	G	18	50243115	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.A998C:p.E333A;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.A998C:p.E333A;	7.6635986595406E-4	0.056
18	47769486	C	A	18	50243116	y	y	exonic	CCDC11	stopgain SNV	CCDC11:NM_145020:exon6:c.G997T:p.E333X;	exonic	ENSG00000172361	stopgain SNV	ENSG00000172361:ENST00000398545:exon6:c.G997T:p.E333X;	0.999524193523653	0.86
18	47769486	C	G	18	50243116	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.G997C:p.E333Q;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.G997C:p.E333Q;	0.662200531103866	0.736
18	47769486	C	T	18	50243116	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon6:c.G997A:p.E333K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon6:c.G997A:p.E333K;	0.127670274266534	0.358
18	47769487	C	A	18	50243117	y	y	splicing	CCDC11(NM_145020:exon7:c.997-1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.997-1G>T)	.	.	0.999986741007567	0.934
18	47769487	C	G	18	50243117	y	y	splicing	CCDC11(NM_145020:exon7:c.997-1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.997-1G>C)	.	.	0.999986741007567	0.934
18	47769487	C	T	18	50243117	y	y	splicing	CCDC11(NM_145020:exon7:c.997-1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.997-1G>A)	.	.	0.999986741007567	0.934
18	47769488	T	A	18	50243118	y	y	splicing	CCDC11(NM_145020:exon7:c.997-2A>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.997-2A>T)	.	.	0.999992689121502	0.938
18	47769488	T	C	18	50243118	y	y	splicing	CCDC11(NM_145020:exon7:c.997-2A>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.997-2A>G)	.	.	0.999992689121502	0.938
18	47769488	T	G	18	50243118	y	y	splicing	CCDC11(NM_145020:exon7:c.997-2A>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon7:c.997-2A>C)	.	.	0.999992689121502	0.938
18	47769489	A	C	18	50243119	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.97209656861776	0.614
18	47769489	A	G	18	50243119	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.78982594645595E-5	0.048
18	47769489	A	T	18	50243119	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.035512131396093	0.346
18	47769490	T	A	18	50243120	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00136726455082536	0.18
18	47769490	T	C	18	50243120	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.95160185605563E-4	0.158
18	47769490	T	G	18	50243120	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.64695927492875E-5	0.072
18	47769491	G	A	18	50243121	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.16265149796991E-5	0.014
18	47769491	G	C	18	50243121	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999969370041124	0.986
18	47769491	G	T	18	50243121	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00156531403797476	0.182
18	47769492	T	A	18	50243122	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.37578273436086E-4	0.072
18	47769492	T	C	18	50243122	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.23588104932988E-4	0.026
18	47769492	T	G	18	50243122	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.2991102412291E-4	0.094
18	47769493	A	C	18	50243123	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.038760355474037	0.29
18	47769493	A	G	18	50243123	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.10573778978889E-4	0.028
18	47769493	A	T	18	50243123	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0453789761104654	0.306
18	47769494	A	C	18	50243124	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.393492991432798	0.668
18	47769494	A	G	18	50243124	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0035353664366804	0.108
18	47769494	A	T	18	50243124	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.874598414639517	0.728
18	47769495	C	A	18	50243125	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.8791908214023E-5	0.178
18	47769495	C	G	18	50243125	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.53026622906849E-5	0.14
18	47769495	C	T	18	50243125	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.93732846701841E-4	0.116
18	47769496	A	C	18	50243126	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999981587279572	0.974
18	47769496	A	G	18	50243126	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00840200688650621	0.232
18	47769496	A	T	18	50243126	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999977591094598	0.968
18	47769497	T	A	18	50243127	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.33239758272541E-5	0.052
18	47769497	T	C	18	50243127	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.56955573373025E-5	0.044
18	47769497	T	G	18	50243127	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.91226961070856E-5	0.026
18	47769498	A	C	18	50243128	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.997535308509577	0.756
18	47769498	A	G	18	50243128	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.192640313941992	0.332
18	47769498	A	T	18	50243128	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.998974165239107	0.838
18	47777120	T	A	18	50250750	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.72410482137535E-6	0.0
18	47777120	T	C	18	50250750	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.04900693216345E-6	0.0
18	47777120	T	G	18	50250750	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.04900693216345E-6	0.0
18	47777121	G	A	18	50250751	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.75912381928944E-4	0.046
18	47777121	G	C	18	50250751	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.74910185254821E-5	0.0
18	47777121	G	T	18	50250751	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.75538498902536E-5	0.0
18	47777122	T	A	18	50250752	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.14781690687995E-4	0.072
18	47777122	T	C	18	50250752	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.27344263457235E-4	0.008
18	47777122	T	G	18	50250752	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00169909514194358	0.088
18	47777123	C	A	18	50250753	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999960834468169	0.996
18	47777123	C	G	18	50250753	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999986946811286	0.974
18	47777123	C	T	18	50250753	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999956285884393	0.998
18	47777124	T	A	18	50250754	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999464033796577	0.876
18	47777124	T	C	18	50250754	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.99961529134959	0.922
18	47777124	T	G	18	50250754	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.998434476331672	0.838
18	47777125	T	A	18	50250755	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999322149946012	0.932
18	47777125	T	C	18	50250755	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.954158075248801	0.606
18	47777125	T	G	18	50250755	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999231593623107	0.922
18	47777126	A	C	18	50250756	y	y	splicing	CCDC11(NM_145020:exon6:c.996+2T>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.996+2T>G)	.	.	0.99994568797423	0.93
18	47777126	A	G	18	50250756	y	y	splicing	CCDC11(NM_145020:exon6:c.996+2T>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.996+2T>C)	.	.	0.999509628187786	0.88
18	47777126	A	T	18	50250756	y	y	splicing	CCDC11(NM_145020:exon6:c.996+2T>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.996+2T>A)	.	.	0.999978952611685	0.928
18	47777127	C	A	18	50250757	y	y	splicing	CCDC11(NM_145020:exon6:c.996+1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.996+1G>T)	.	.	0.999968849989454	0.95
18	47777127	C	G	18	50250757	y	y	splicing	CCDC11(NM_145020:exon6:c.996+1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.996+1G>C)	.	.	0.999968849989454	0.948
18	47777127	C	T	18	50250757	y	y	splicing	CCDC11(NM_145020:exon6:c.996+1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.996+1G>A)	.	.	0.999968560109063	0.95
18	47777128	T	A	18	50250758	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.A996T:p.R332S;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.A996T:p.R332S;	0.012318026231855	0.094
18	47777128	T	C	18	50250758	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon5:c.A996G:p.R332R;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.A996G:p.R332R;	2.46031746702809E-4	0.068
18	47777128	T	G	18	50250758	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.A996C:p.R332S;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.A996C:p.R332S;	3.80818073411608E-4	0.096
18	47777129	C	A	18	50250759	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.G995T:p.R332I;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.G995T:p.R332I;	1.26980305587232E-4	0.092
18	47777129	C	G	18	50250759	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.G995C:p.R332T;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.G995C:p.R332T;	8.27383338151378E-5	0.004
18	47777129	C	T	18	50250759	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.G995A:p.R332K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.G995A:p.R332K;	1.87092856987144E-4	0.004
18	47777130	T	A	18	50250760	y	y	exonic	CCDC11	stopgain SNV	CCDC11:NM_145020:exon5:c.A994T:p.R332X;	exonic	ENSG00000172361	stopgain SNV	ENSG00000172361:ENST00000398545:exon5:c.A994T:p.R332X;	0.998632018077186	0.796
18	47777130	T	C	18	50250760	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.A994G:p.R332G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.A994G:p.R332G;	0.703869206440154	0.56
18	47777130	T	G	18	50250760	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon5:c.A994C:p.R332R;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.A994C:p.R332R;	0.00282288556703721	0.052
18	47777345	T	A	18	50250975	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.A779T:p.E260V;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.A779T:p.E260V;	7.38580283750455E-4	0.0
18	47777345	T	C	18	50250975	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.A779G:p.E260G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.A779G:p.E260G;	6.90504432873429E-4	0.014
18	47777345	T	G	18	50250975	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.A779C:p.E260A;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.A779C:p.E260A;	2.17273371216308E-4	0.024
18	47777346	C	A	18	50250976	y	y	exonic	CCDC11	stopgain SNV	CCDC11:NM_145020:exon5:c.G778T:p.E260X;	exonic	ENSG00000172361	stopgain SNV	ENSG00000172361:ENST00000398545:exon5:c.G778T:p.E260X;	0.999966506667019	1.0
18	47777346	C	G	18	50250976	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.G778C:p.E260Q;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.G778C:p.E260Q;	0.999464607541768	0.878
18	47777346	C	T	18	50250976	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon5:c.G778A:p.E260K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon5:c.G778A:p.E260K;	0.892475705204478	0.588
18	47777347	C	A	18	50250977	y	y	splicing	CCDC11(NM_145020:exon6:c.778-1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.778-1G>T)	.	.	0.99997775019564	0.896
18	47777347	C	G	18	50250977	y	y	splicing	CCDC11(NM_145020:exon6:c.778-1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.778-1G>C)	.	.	0.999977162774916	0.872
18	47777347	C	T	18	50250977	y	y	splicing	CCDC11(NM_145020:exon6:c.778-1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.778-1G>A)	.	.	0.999976475802857	0.908
18	47777348	T	A	18	50250978	y	y	splicing	CCDC11(NM_145020:exon6:c.778-2A>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.778-2A>T)	.	.	0.999871793741964	0.796
18	47777348	T	C	18	50250978	y	y	splicing	CCDC11(NM_145020:exon6:c.778-2A>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.778-2A>G)	.	.	0.999931658812138	0.768
18	47777348	T	G	18	50250978	y	y	splicing	CCDC11(NM_145020:exon6:c.778-2A>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon6:c.778-2A>C)	.	.	0.999931658812138	0.772
18	47777349	A	C	18	50250979	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.997553419530589	0.748
18	47777349	A	G	18	50250979	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.34916836670379E-4	0.022
18	47777349	A	T	18	50250979	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.564382102050711	0.484
18	47777350	A	C	18	50250980	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.8781986847042E-5	0.03
18	47777350	A	G	18	50250980	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.17572282131478E-5	0.026
18	47777350	A	T	18	50250980	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.94230646384431E-5	0.0
18	47777351	G	A	18	50250981	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.14127032101363E-5	0.0
18	47777351	G	C	18	50250981	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00248162025270193	0.126
18	47777351	G	T	18	50250981	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.87226718550941E-4	0.088
18	47777352	G	A	18	50250982	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.81402753165338E-5	0.006
18	47777352	G	C	18	50250982	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999412787777821	0.758
18	47777352	G	T	18	50250982	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	9.61418341165882E-4	0.134
18	47777353	T	A	18	50250983	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.71545702160004E-5	0.004
18	47777353	T	C	18	50250983	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.93108628466209E-5	0.004
18	47777353	T	G	18	50250983	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.6858594992653E-5	0.004
18	47777354	A	C	18	50250984	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.3653939146135E-4	0.086
18	47777354	A	G	18	50250984	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.20561211914942E-5	0.002
18	47777354	A	T	18	50250984	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00187788428731509	0.07
18	47777355	G	A	18	50250985	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.70373938297129E-4	0.0
18	47777355	G	C	18	50250985	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00280592336348305	0.126
18	47777355	G	T	18	50250985	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00640229905545658	0.144
18	47777356	A	C	18	50250986	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.437498130363772	0.462
18	47777356	A	G	18	50250986	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.69396053263533E-4	0.032
18	47777356	A	T	18	50250986	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0685162662946543	0.348
18	47777357	A	C	18	50250987	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999679678861062	0.964
18	47777357	A	G	18	50250987	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00422392275152784	0.19
18	47777357	A	T	18	50250987	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.323316210988627	0.572
18	47777358	T	A	18	50250988	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.59099809633846E-5	0.0
18	47777358	T	C	18	50250988	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.39418467360601E-5	0.024
18	47777358	T	G	18	50250988	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.95792866086172E-5	0.0
18	47777843	A	C	18	50251473	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.16257987334992E-4	0.024
18	47777843	A	G	18	50251473	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00311894293797181	0.006
18	47777843	A	T	18	50251473	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.67757668976258E-4	0.006
18	47777844	G	A	18	50251474	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.14749966838062E-4	0.012
18	47777844	G	C	18	50251474	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.17277260905207E-4	0.012
18	47777844	G	T	18	50251474	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.02192949602319E-4	0.002
18	47777845	G	A	18	50251475	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.02914343643298E-4	0.022
18	47777845	G	C	18	50251475	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00567662708734782	0.106
18	47777845	G	T	18	50251475	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00534719139234159	0.088
18	47777846	C	A	18	50251476	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.99935829163936	0.762
18	47777846	C	G	18	50251476	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999264695231261	0.768
18	47777846	C	T	18	50251476	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.998410146845291	0.758
18	47777847	C	A	18	50251477	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00197854462837086	0.088
18	47777847	C	G	18	50251477	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.33686425366806E-4	0.434
18	47777847	C	T	18	50251477	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.80815429985926E-4	0.048
18	47777848	C	A	18	50251478	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.993811773243958	0.588
18	47777848	C	G	18	50251478	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.992897204229634	0.618
18	47777848	C	T	18	50251478	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00220853708716248	0.104
18	47777849	A	C	18	50251479	y	y	splicing	CCDC11(NM_145020:exon5:c.777+2T>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.777+2T>G)	.	.	0.99994515364607	0.904
18	47777849	A	G	18	50251479	y	y	splicing	CCDC11(NM_145020:exon5:c.777+2T>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.777+2T>C)	.	.	0.999961585429978	0.914
18	47777849	A	T	18	50251479	y	y	splicing	CCDC11(NM_145020:exon5:c.777+2T>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.777+2T>A)	.	.	0.99994515364607	0.904
18	47777850	C	A	18	50251480	y	y	splicing	CCDC11(NM_145020:exon5:c.777+1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.777+1G>T)	.	.	0.999981919071965	0.894
18	47777850	C	G	18	50251480	y	y	splicing	CCDC11(NM_145020:exon5:c.777+1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.777+1G>C)	.	.	0.999981919071965	0.862
18	47777850	C	T	18	50251480	y	y	splicing	CCDC11(NM_145020:exon5:c.777+1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.777+1G>A)	.	.	0.999981919071965	0.894
18	47777851	C	A	18	50251481	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon4:c.G777T:p.V259V;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G777T:p.V259V;	0.999877430296445	0.946
18	47777851	C	G	18	50251481	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon4:c.G777C:p.V259V;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G777C:p.V259V;	0.999940156225609	0.934
18	47777851	C	T	18	50251481	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon4:c.G777A:p.V259V;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G777A:p.V259V;	0.999939002415936	0.932
18	47777852	A	C	18	50251482	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.T776G:p.V259G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.T776G:p.V259G;	0.97281842490564	0.668
18	47777852	A	G	18	50251482	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.T776C:p.V259A;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.T776C:p.V259A;	0.382042315798042	0.644
18	47777852	A	T	18	50251482	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.T776A:p.V259E;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.T776A:p.V259E;	0.720685829289676	0.586
18	47777853	C	A	18	50251483	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.G775T:p.V259L;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G775T:p.V259L;	3.11562595482353E-5	0.092
18	47777853	C	G	18	50251483	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.G775C:p.V259L;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G775C:p.V259L;	2.53575874014741E-5	0.1
18	47777853	C	T	18	50251483	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.G775A:p.V259M;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G775A:p.V259M;	2.34859126832416E-4	0.054
18	47778153	C	A	18	50251783	y	y	exonic	CCDC11	stopgain SNV	CCDC11:NM_145020:exon4:c.G475T:p.E159X;	exonic	ENSG00000172361	stopgain SNV	ENSG00000172361:ENST00000398545:exon4:c.G475T:p.E159X;	0.983015723073521	0.852
18	47778153	C	G	18	50251783	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.G475C:p.E159Q;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G475C:p.E159Q;	0.897109214389909	0.634
18	47778153	C	T	18	50251783	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.G475A:p.E159K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G475A:p.E159K;	0.979574498032301	0.718
18	47778154	C	A	18	50251784	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.G474T:p.R158S;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G474T:p.R158S;	0.946638753129323	0.8
18	47778154	C	G	18	50251784	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon4:c.G474C:p.R158S;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G474C:p.R158S;	0.660006861587675	0.656
18	47778154	C	T	18	50251784	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon4:c.G474A:p.R158R;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon4:c.G474A:p.R158R;	0.017221787821085	0.262
18	47778155	C	A	18	50251785	y	y	splicing	CCDC11(NM_145020:exon5:c.474-1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.474-1G>T)	.	.	0.999952286258862	0.864
18	47778155	C	G	18	50251785	y	y	splicing	CCDC11(NM_145020:exon5:c.474-1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.474-1G>C)	.	.	0.99995299556238	0.864
18	47778155	C	T	18	50251785	y	y	splicing	CCDC11(NM_145020:exon5:c.474-1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.474-1G>A)	.	.	0.999952286258862	0.878
18	47778156	T	A	18	50251786	y	y	splicing	CCDC11(NM_145020:exon5:c.474-2A>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.474-2A>T)	.	.	0.999969255906173	0.856
18	47778156	T	C	18	50251786	y	y	splicing	CCDC11(NM_145020:exon5:c.474-2A>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.474-2A>G)	.	.	0.999962958601995	0.836
18	47778156	T	G	18	50251786	y	y	splicing	CCDC11(NM_145020:exon5:c.474-2A>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon5:c.474-2A>C)	.	.	0.999962958601995	0.838
18	47778157	G	A	18	50251787	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	9.62984010024456E-4	0.07
18	47778157	G	C	18	50251787	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999755913276624	0.912
18	47778157	G	T	18	50251787	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0591481635983042	0.41
18	47778158	A	C	18	50251788	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.43175415546006E-4	0.006
18	47778158	A	G	18	50251788	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.22963204815658E-5	0.018
18	47778158	A	T	18	50251788	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.32262585452539E-5	0.004
18	47778159	A	C	18	50251789	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.414840267834956	0.426
18	47778159	A	G	18	50251789	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	9.5748339779851E-4	0.016
18	47778159	A	T	18	50251789	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.517574721323826	0.452
18	47778160	A	C	18	50251790	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0366066573825396	0.42
18	47778160	A	G	18	50251790	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.28513259136064E-5	0.0
18	47778160	A	T	18	50251790	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.049261019052895	0.358
18	47778161	G	A	18	50251791	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.99984492512108E-5	0.006
18	47778161	G	C	18	50251791	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.80701715933044E-4	0.022
18	47778161	G	T	18	50251791	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.95613606639289E-4	0.024
18	47778162	G	A	18	50251792	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.40328622298533E-5	0.0
18	47778162	G	C	18	50251792	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.96090389413473E-4	0.004
18	47778162	G	T	18	50251792	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.72968901872247E-4	0.018
18	47778163	A	C	18	50251793	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00108007930898746	0.12
18	47778163	A	G	18	50251793	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.94974926286572E-5	0.002
18	47778163	A	T	18	50251793	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0014558197732683	0.098
18	47778164	A	C	18	50251794	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00501671928246928	0.148
18	47778164	A	G	18	50251794	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.27266064115586E-5	0.0
18	47778164	A	T	18	50251794	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00587986442953128	0.12
18	47778165	A	C	18	50251795	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.40069394683046	0.45
18	47778165	A	G	18	50251795	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00766729055989166	0.11
18	47778165	A	T	18	50251795	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.461425371264776	0.44
18	47778166	A	C	18	50251796	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999426403411276	0.968
18	47778166	A	G	18	50251796	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.35565988265278E-5	0.002
18	47778166	A	T	18	50251796	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.039305734744881	0.356
18	47787426	T	A	18	50261056	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.80888837994683E-5	0.004
18	47787426	T	C	18	50261056	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.61240130676774E-5	0.0
18	47787426	T	G	18	50261056	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.98720941490671E-5	0.0
18	47787427	T	A	18	50261057	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.65141342243554E-4	0.0
18	47787427	T	C	18	50261057	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.28263798173875E-5	0.0
18	47787427	T	G	18	50261057	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.70400608710468E-5	0.0
18	47787428	C	A	18	50261058	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.73473761272501E-5	0.002
18	47787428	C	G	18	50261058	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.13436599380553E-4	0.036
18	47787428	C	T	18	50261058	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.80688467306111E-4	0.004
18	47787429	A	C	18	50261059	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.03593628634558E-5	0.008
18	47787429	A	G	18	50261059	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.84848614138451E-6	0.002
18	47787429	A	T	18	50261059	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.00636398962675E-5	0.006
18	47787430	T	A	18	50261060	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.841402716126856	0.568
18	47787430	T	C	18	50261060	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.951731110513873	0.746
18	47787430	T	G	18	50261060	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.351388937035524	0.506
18	47787431	T	A	18	50261061	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999830468791667	0.924
18	47787431	T	C	18	50261061	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.994022755899931	0.774
18	47787431	T	G	18	50261061	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999703239453525	0.964
18	47787432	A	C	18	50261062	y	y	splicing	CCDC11(NM_145020:exon4:c.473+2T>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.473+2T>G)	.	.	0.99994568797423	0.94
18	47787432	A	G	18	50261062	y	y	splicing	CCDC11(NM_145020:exon4:c.473+2T>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.473+2T>C)	.	.	0.973509269386723	0.752
18	47787432	A	T	18	50261062	y	y	splicing	CCDC11(NM_145020:exon4:c.473+2T>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.473+2T>A)	.	.	0.99994568797423	0.93
18	47787433	C	A	18	50261063	y	y	splicing	CCDC11(NM_145020:exon4:c.473+1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.473+1G>T)	.	.	0.999990361384395	0.938
18	47787433	C	G	18	50261063	y	y	splicing	CCDC11(NM_145020:exon4:c.473+1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.473+1G>C)	.	.	0.999990361384395	0.938
18	47787433	C	T	18	50261063	y	y	splicing	CCDC11(NM_145020:exon4:c.473+1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.473+1G>A)	.	.	0.999990361384395	0.938
18	47787434	C	A	18	50261064	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.G473T:p.R158M;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.G473T:p.R158M;	0.999991154672207	0.996
18	47787434	C	G	18	50261064	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.G473C:p.R158T;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.G473C:p.R158T;	0.999998271318368	0.998
18	47787434	C	T	18	50261064	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.G473A:p.R158K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.G473A:p.R158K;	0.999993501739326	1.0
18	47787435	T	A	18	50261065	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.A472T:p.R158W;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.A472T:p.R158W;	0.999900670763307	0.992
18	47787435	T	C	18	50261065	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.A472G:p.R158G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.A472G:p.R158G;	0.99981972505575	0.988
18	47787435	T	G	18	50261065	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon3:c.A472C:p.R158R;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.A472C:p.R158R;	0.99884283952053	0.98
18	47787436	G	A	18	50261066	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon3:c.C471T:p.F157F;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.C471T:p.F157F;	0.998774836216595	0.888
18	47787436	G	C	18	50261066	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.C471G:p.F157L;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.C471G:p.F157L;	0.940241438266035	0.686
18	47787436	G	T	18	50261066	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.C471A:p.F157L;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.C471A:p.F157L;	0.930550689913548	0.826
18	47787606	G	A	18	50261236	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon3:c.C301T:p.L101L;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.C301T:p.L101L;	3.04066491126604E-4	0.004
18	47787606	G	C	18	50261236	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.C301G:p.L101V;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.C301G:p.L101V;	0.0107928540584395	0.138
18	47787606	G	T	18	50261236	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.C301A:p.L101I;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.C301A:p.L101I;	0.0237989932038579	0.182
18	47787607	C	A	18	50261237	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.G300T:p.K100N;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.G300T:p.K100N;	0.518801527445999	0.548
18	47787607	C	G	18	50261237	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon3:c.G300C:p.K100N;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.G300C:p.K100N;	0.130766101777717	0.446
18	47787607	C	T	18	50261237	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon3:c.G300A:p.K100K;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon3:c.G300A:p.K100K;	0.00229279508554744	0.154
18	47787608	C	A	18	50261238	y	y	splicing	CCDC11(NM_145020:exon4:c.300-1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.300-1G>T)	.	.	0.999990361384395	0.938
18	47787608	C	G	18	50261238	y	y	splicing	CCDC11(NM_145020:exon4:c.300-1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.300-1G>C)	.	.	0.999990361384395	0.938
18	47787608	C	T	18	50261238	y	y	splicing	CCDC11(NM_145020:exon4:c.300-1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.300-1G>A)	.	.	0.999990361384395	0.938
18	47787609	T	A	18	50261239	y	y	splicing	CCDC11(NM_145020:exon4:c.300-2A>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.300-2A>T)	.	.	0.999988247793601	0.928
18	47787609	T	C	18	50261239	y	y	splicing	CCDC11(NM_145020:exon4:c.300-2A>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.300-2A>G)	.	.	0.999988247793601	0.928
18	47787609	T	G	18	50261239	y	y	splicing	CCDC11(NM_145020:exon4:c.300-2A>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon4:c.300-2A>C)	.	.	0.999988247793601	0.928
18	47787610	G	A	18	50261240	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.25566496257131E-4	0.034
18	47787610	G	C	18	50261240	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.992313401706811	0.828
18	47787610	G	T	18	50261240	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.237251606993652	0.444
18	47787611	A	C	18	50261241	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.10337975297345E-4	0.0
18	47787611	A	G	18	50261241	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.59304096265364E-4	0.002
18	47787611	A	T	18	50261241	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.1603890275701E-4	0.004
18	47787612	A	C	18	50261242	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.452817368266491	0.518
18	47787612	A	G	18	50261242	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0110377633148171	0.218
18	47787612	A	T	18	50261242	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.179258247860723	0.524
18	47787613	A	C	18	50261243	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.20906967733614	0.474
18	47787613	A	G	18	50261243	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.32252808413881E-4	0.002
18	47787613	A	T	18	50261243	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.166752114122026	0.336
18	47787614	C	A	18	50261244	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	7.69223387292002E-6	0.0
18	47787614	C	G	18	50261244	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.90003992495568E-6	0.004
18	47787614	C	T	18	50261244	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.94734475642043E-5	0.006
18	47787615	A	C	18	50261245	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00581138400331132	0.226
18	47787615	A	G	18	50261245	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.12235052363555E-4	0.008
18	47787615	A	T	18	50261245	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.998990102577861	0.974
18	47787616	A	C	18	50261246	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0175614446600948	0.308
18	47787616	A	G	18	50261246	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.36957788932334E-4	0.034
18	47787616	A	T	18	50261246	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0227065328131801	0.318
18	47787617	A	C	18	50261247	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0072828133283567	0.29
18	47787617	A	G	18	50261247	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.07734474423921E-4	0.0
18	47787617	A	T	18	50261247	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0225355659390298	0.292
18	47787618	A	C	18	50261248	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	6.29504326425456E-4	0.34
18	47787618	A	G	18	50261248	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.42960584851159E-5	0.092
18	47787618	A	T	18	50261248	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00505749894163277	0.308
18	47787619	A	C	18	50261249	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.71096613822514E-4	0.094
18	47787619	A	G	18	50261249	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.36173833911755E-5	0.0
18	47787619	A	T	18	50261249	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00160407554842948	0.09
18	47788352	A	C	18	50261982	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.21218471670823E-4	0.004
18	47788352	A	G	18	50261982	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.05000914235674E-4	0.002
18	47788352	A	T	18	50261982	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.17967311471414E-4	0.0
18	47788353	G	A	18	50261983	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0015199421068795	0.04
18	47788353	G	C	18	50261983	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.49522309066587E-4	0.0
18	47788353	G	T	18	50261983	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.78389654127837E-5	0.0
18	47788354	C	A	18	50261984	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	9.31818855693946E-5	0.024
18	47788354	C	G	18	50261984	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.20515668683922E-4	0.048
18	47788354	C	T	18	50261984	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.34652985013239E-4	0.0
18	47788355	C	A	18	50261985	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.99997342422371	0.998
18	47788355	C	G	18	50261985	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999988789627554	0.998
18	47788355	C	T	18	50261985	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.9999777435865	0.998
18	47788356	T	A	18	50261986	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.998837329777904	0.862
18	47788356	T	C	18	50261986	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999736067318311	0.912
18	47788356	T	G	18	50261986	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.995661561487059	0.81
18	47788357	T	A	18	50261987	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999618768110988	0.822
18	47788357	T	C	18	50261987	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.993972870024414	0.658
18	47788357	T	G	18	50261987	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999683658439938	0.878
18	47788358	A	C	18	50261988	y	y	splicing	CCDC11(NM_145020:exon3:c.299+2T>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.299+2T>G)	.	.	0.999988247793601	0.942
18	47788358	A	G	18	50261988	y	y	splicing	CCDC11(NM_145020:exon3:c.299+2T>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.299+2T>C)	.	.	0.999885477614061	0.89
18	47788358	A	T	18	50261988	y	y	splicing	CCDC11(NM_145020:exon3:c.299+2T>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.299+2T>A)	.	.	0.999988247793601	0.942
18	47788359	C	A	18	50261989	y	y	splicing	CCDC11(NM_145020:exon3:c.299+1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.299+1G>T)	.	.	0.999989072007339	0.95
18	47788359	C	G	18	50261989	y	y	splicing	CCDC11(NM_145020:exon3:c.299+1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.299+1G>C)	.	.	0.999989072007339	0.95
18	47788359	C	T	18	50261989	y	y	splicing	CCDC11(NM_145020:exon3:c.299+1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.299+1G>A)	.	.	0.999989072007339	0.95
18	47788360	T	A	18	50261990	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.A299T:p.K100M;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.A299T:p.K100M;	0.0229608280180866	0.092
18	47788360	T	C	18	50261990	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.A299G:p.K100R;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.A299G:p.K100R;	9.69983613207046E-5	0.02
18	47788360	T	G	18	50261990	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.A299C:p.K100T;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.A299C:p.K100T;	7.92691905240171E-4	0.112
18	47788361	T	A	18	50261991	y	y	exonic	CCDC11	stopgain SNV	CCDC11:NM_145020:exon2:c.A298T:p.K100X;	exonic	ENSG00000172361	stopgain SNV	ENSG00000172361:ENST00000398545:exon2:c.A298T:p.K100X;	0.999799770210885	0.99
18	47788361	T	C	18	50261991	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.A298G:p.K100E;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.A298G:p.K100E;	0.999642887593796	0.952
18	47788361	T	G	18	50261991	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.A298C:p.K100Q;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.A298C:p.K100Q;	0.999483222284252	0.942
18	47788362	A	C	18	50261992	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.T297G:p.N99K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.T297G:p.N99K;	0.0189844350980506	0.162
18	47788362	A	G	18	50261992	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon2:c.T297C:p.N99N;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.T297C:p.N99N;	3.07349527992506E-4	0.024
18	47788362	A	T	18	50261992	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.T297A:p.N99K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.T297A:p.N99K;	0.0141539498834806	0.172
18	47788588	C	A	18	50262218	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.G71T:p.R24I;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.G71T:p.R24I;	0.919565224277674	0.784
18	47788588	C	G	18	50262218	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.G71C:p.R24T;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.G71C:p.R24T;	0.482155112011026	0.544
18	47788588	C	T	18	50262218	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.G71A:p.R24K;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.G71A:p.R24K;	0.00675269495240795	0.124
18	47788589	T	A	18	50262219	y	y	exonic	CCDC11	stopgain SNV	CCDC11:NM_145020:exon2:c.A70T:p.R24X;	exonic	ENSG00000172361	stopgain SNV	ENSG00000172361:ENST00000398545:exon2:c.A70T:p.R24X;	0.78457025120127	0.534
18	47788589	T	C	18	50262219	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon2:c.A70G:p.R24G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.A70G:p.R24G;	0.0452367037193129	0.354
18	47788589	T	G	18	50262219	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon2:c.A70C:p.R24R;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon2:c.A70C:p.R24R;	0.0041320707526635	0.21
18	47788590	C	A	18	50262220	y	y	splicing	CCDC11(NM_145020:exon3:c.70-1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.70-1G>T)	.	.	0.999974107838956	0.886
18	47788590	C	G	18	50262220	y	y	splicing	CCDC11(NM_145020:exon3:c.70-1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.70-1G>C)	.	.	0.999971412033808	0.876
18	47788590	C	T	18	50262220	y	y	splicing	CCDC11(NM_145020:exon3:c.70-1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.70-1G>A)	.	.	0.999974773836978	0.89
18	47788591	T	A	18	50262221	y	y	splicing	CCDC11(NM_145020:exon3:c.70-2A>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.70-2A>T)	.	.	0.999972871252391	0.888
18	47788591	T	C	18	50262221	y	y	splicing	CCDC11(NM_145020:exon3:c.70-2A>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.70-2A>G)	.	.	0.999972155025474	0.874
18	47788591	T	G	18	50262221	y	y	splicing	CCDC11(NM_145020:exon3:c.70-2A>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon3:c.70-2A>C)	.	.	0.999972155025474	0.874
18	47788592	G	A	18	50262222	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.40558154105824E-4	0.014
18	47788592	G	C	18	50262222	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.998872343808773	0.918
18	47788592	G	T	18	50262222	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.82573443505889	0.558
18	47788593	A	C	18	50262223	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.39340839173168E-5	0.006
18	47788593	A	G	18	50262223	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.15787501882707E-5	0.004
18	47788593	A	T	18	50262223	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	9.7560039913825E-5	0.026
18	47788594	A	C	18	50262224	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.971657248576292	0.662
18	47788594	A	G	18	50262224	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.55749349509639E-4	0.012
18	47788594	A	T	18	50262224	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.909904856291837	0.658
18	47788595	A	C	18	50262225	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.574935096640912	0.488
18	47788595	A	G	18	50262225	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.1346755874475E-4	0.018
18	47788595	A	T	18	50262225	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.736806611001277	0.472
18	47788596	A	C	18	50262226	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.179685276677607	0.272
18	47788596	A	G	18	50262226	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.37627021248432E-4	0.004
18	47788596	A	T	18	50262226	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.733667330973696	0.496
18	47788597	C	A	18	50262227	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.83827441694505E-5	0.012
18	47788597	C	G	18	50262227	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	3.0046384885684E-5	0.006
18	47788597	C	T	18	50262227	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.00719643235795E-5	0.04
18	47788598	A	C	18	50262228	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0862949094865923	0.184
18	47788598	A	G	18	50262228	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.87080937317607E-5	0.02
18	47788598	A	T	18	50262228	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999924054278219	0.99
18	47788599	A	C	18	50262229	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.351106823646726	0.402
18	47788599	A	G	18	50262229	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.51211991256967E-4	0.038
18	47788599	A	T	18	50262229	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.669734795125598	0.508
18	47788600	A	C	18	50262230	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.0148837551859309	0.244
18	47788600	A	G	18	50262230	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	4.67556694373038E-4	0.044
18	47788600	A	T	18	50262230	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.77721229959733	0.558
18	47788601	A	C	18	50262231	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00756766206330027	0.162
18	47788601	A	G	18	50262231	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.21383220360667E-4	0.004
18	47788601	A	T	18	50262231	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.00931696642749285	0.162
18	47792698	G	A	18	50266328	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.24341355203933E-4	0.0
18	47792698	G	C	18	50266328	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.65141747463852E-5	0.0
18	47792698	G	T	18	50266328	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	8.65141747463852E-5	0.0
18	47792699	T	A	18	50266329	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	5.04818225270416E-4	0.004
18	47792699	T	C	18	50266329	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.72017245347212E-4	0.01
18	47792699	T	G	18	50266329	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	2.72017245347212E-4	0.01
18	47792700	G	A	18	50266330	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	9.25576230002845E-5	0.006
18	47792700	G	C	18	50266330	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	1.18438227937972E-4	0.042
18	47792700	G	T	18	50266330	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	9.25576230002845E-5	0.008
18	47792701	C	A	18	50266331	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999561980539992	0.892
18	47792701	C	G	18	50266331	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999509499593475	0.952
18	47792701	C	T	18	50266331	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999561980539992	0.918
18	47792702	T	A	18	50266332	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.915920414759275	0.674
18	47792702	T	C	18	50266332	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.962683521228272	0.718
18	47792702	T	G	18	50266332	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.820496401882092	0.618
18	47792703	T	A	18	50266333	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999499780435672	0.842
18	47792703	T	C	18	50266333	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.165318840942837	0.264
18	47792703	T	G	18	50266333	y	y	intronic	CCDC11	.	.	intronic	ENSG00000172361	.	.	0.999382816918436	0.922
18	47792704	A	C	18	50266334	y	y	splicing	CCDC11(NM_145020:exon2:c.69+2T>G)	.	.	splicing	ENSG00000172361(ENST00000398545:exon2:c.69+2T>G)	.	.	0.999946188727699	0.916
18	47792704	A	G	18	50266334	y	y	splicing	CCDC11(NM_145020:exon2:c.69+2T>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon2:c.69+2T>C)	.	.	0.999663432200492	0.924
18	47792704	A	T	18	50266334	y	y	splicing	CCDC11(NM_145020:exon2:c.69+2T>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon2:c.69+2T>A)	.	.	0.999946188727699	0.946
18	47792705	C	A	18	50266335	y	y	splicing	CCDC11(NM_145020:exon2:c.69+1G>T)	.	.	splicing	ENSG00000172361(ENST00000398545:exon2:c.69+1G>T)	.	.	0.999938990645747	0.93
18	47792705	C	G	18	50266335	y	y	splicing	CCDC11(NM_145020:exon2:c.69+1G>C)	.	.	splicing	ENSG00000172361(ENST00000398545:exon2:c.69+1G>C)	.	.	0.999938990645747	0.938
18	47792705	C	T	18	50266335	y	y	splicing	CCDC11(NM_145020:exon2:c.69+1G>A)	.	.	splicing	ENSG00000172361(ENST00000398545:exon2:c.69+1G>A)	.	.	0.999938990645747	0.944
18	47792706	C	A	18	50266336	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon1:c.G69T:p.V23V;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.G69T:p.V23V;	0.999972600626433	0.95
18	47792706	C	G	18	50266336	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon1:c.G69C:p.V23V;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.G69C:p.V23V;	0.999963610704456	0.834
18	47792706	C	T	18	50266336	y	y	exonic	CCDC11	synonymous SNV	CCDC11:NM_145020:exon1:c.G69A:p.V23V;	exonic	ENSG00000172361	synonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.G69A:p.V23V;	0.999910320581547	0.924
18	47792707	A	C	18	50266337	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon1:c.T68G:p.V23G;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.T68G:p.V23G;	0.0278200653073506	0.176
18	47792707	A	G	18	50266337	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon1:c.T68C:p.V23A;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.T68C:p.V23A;	0.0332309711876258	0.268
18	47792707	A	T	18	50266337	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon1:c.T68A:p.V23E;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.T68A:p.V23E;	0.0855092002657205	0.254
18	47792708	C	A	18	50266338	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon1:c.G67T:p.V23L;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.G67T:p.V23L;	7.38933740622629E-5	0.004
18	47792708	C	G	18	50266338	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon1:c.G67C:p.V23L;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.G67C:p.V23L;	3.78864525412067E-5	0.002
18	47792708	C	T	18	50266338	y	y	exonic	CCDC11	nonsynonymous SNV	CCDC11:NM_145020:exon1:c.G67A:p.V23M;	exonic	ENSG00000172361	nonsynonymous SNV	ENSG00000172361:ENST00000398545:exon1:c.G67A:p.V23M;	6.35428655471156E-5	0.002
18	47794032	A	C	18	50267662	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204141:exon15:c.T1630G:p.Y544D;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585672:exon15:c.T1630G:p.Y544D;	5.06130248185908E-5	0.0
18	47794032	A	G	18	50267662	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204141:exon15:c.T1630C:p.Y544H;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585672:exon15:c.T1630C:p.Y544H;	5.06130248185908E-5	0.0
18	47794032	A	T	18	50267662	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204141:exon15:c.T1630A:p.Y544N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585672:exon15:c.T1630A:p.Y544N;	5.06130248185908E-5	0.0
18	47794033	C	A	18	50267663	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204141:exon15:c.G1629T:p.R543S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585672:exon15:c.G1629T:p.R543S;	8.57067503506371E-5	0.0
18	47794033	C	G	18	50267663	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204141:exon15:c.G1629C:p.R543S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585672:exon15:c.G1629C:p.R543S;	8.57067503506371E-5	0.0
18	47794033	C	T	18	50267663	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_001204141:exon15:c.G1629A:p.R543R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585672:exon15:c.G1629A:p.R543R;	8.87917650577417E-5	0.0
18	47794034	C	A	18	50267664	y	y	splicing	MBD1(NM_001204139:exon18:c.1851-1G>T;NM_001204141:exon16:c.1629-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon16:c.1629-1G>T;ENST00000592060:exon12:c.1175-1G>T;ENST00000382948:exon18:c.1851-1G>T)	.	.	9.48721659875828E-5	0.0
18	47794034	C	G	18	50267664	y	y	splicing	MBD1(NM_001204139:exon18:c.1851-1G>C;NM_001204141:exon16:c.1629-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon16:c.1629-1G>C;ENST00000592060:exon12:c.1175-1G>C;ENST00000382948:exon18:c.1851-1G>C)	.	.	9.48721659875828E-5	0.0
18	47794034	C	T	18	50267664	y	y	splicing	MBD1(NM_001204139:exon18:c.1851-1G>A;NM_001204141:exon16:c.1629-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon16:c.1629-1G>A;ENST00000592060:exon12:c.1175-1G>A;ENST00000382948:exon18:c.1851-1G>A)	.	.	1.60916158525461E-4	0.002
18	47794035	T	A	18	50267665	y	y	splicing	MBD1(NM_001204139:exon18:c.1851-2A>T;NM_001204141:exon16:c.1629-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon16:c.1629-2A>T;ENST00000592060:exon12:c.1175-2A>T;ENST00000382948:exon18:c.1851-2A>T)	.	.	1.60916158525461E-4	0.0
18	47794035	T	C	18	50267665	y	y	splicing	MBD1(NM_001204139:exon18:c.1851-2A>G;NM_001204141:exon16:c.1629-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon16:c.1629-2A>G;ENST00000592060:exon12:c.1175-2A>G;ENST00000382948:exon18:c.1851-2A>G)	.	.	1.60916158525461E-4	0.0
18	47794035	T	G	18	50267665	y	y	splicing	MBD1(NM_001204139:exon18:c.1851-2A>C;NM_001204141:exon16:c.1629-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon16:c.1629-2A>C;ENST00000592060:exon12:c.1175-2A>C;ENST00000382948:exon18:c.1851-2A>C)	.	.	1.60916158525461E-4	0.0
18	47794036	A	C	18	50267666	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.0837648269734E-4	0.002
18	47794036	A	G	18	50267666	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.10230870145319E-4	0.004
18	47794036	A	T	18	50267666	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.0837648269734E-4	0.002
18	47794037	A	C	18	50267667	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.73132570637721E-5	0.002
18	47794037	A	G	18	50267667	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.73132570637721E-5	0.002
18	47794037	A	T	18	50267667	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.73132570637721E-5	0.002
18	47794038	A	C	18	50267668	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.73132570637721E-5	0.002
18	47794038	A	G	18	50267668	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.73132570637721E-5	0.002
18	47794038	A	T	18	50267668	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.73132570637721E-5	0.002
18	47794039	A	C	18	50267669	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.90179724982391E-4	0.002
18	47794039	A	G	18	50267669	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.90179724982391E-4	0.002
18	47794039	A	T	18	50267669	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.94329255583227E-4	0.002
18	47794040	G	A	18	50267670	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.05567792764038E-5	0.002
18	47794040	G	C	18	50267670	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.05567792764038E-5	0.004
18	47794040	G	T	18	50267670	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.05567792764038E-5	0.002
18	47794041	C	A	18	50267671	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.86441432560976E-4	0.0
18	47794041	C	G	18	50267671	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.86441432560976E-4	0.0
18	47794041	C	T	18	50267671	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.86441432560976E-4	0.0
18	47794042	C	A	18	50267672	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.83346384936158E-5	0.0
18	47794042	C	G	18	50267672	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.83346384936158E-5	0.0
18	47794042	C	T	18	50267672	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.83346384936158E-5	0.0
18	47794043	A	C	18	50267673	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.40830769885186E-5	0.0
18	47794043	A	G	18	50267673	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.40830769885186E-5	0.0
18	47794043	A	T	18	50267673	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.56990630292222E-4	0.0
18	47794044	A	C	18	50267674	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.92348669788415E-5	0.006
18	47794044	A	G	18	50267674	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.92348669788415E-5	0.006
18	47794044	A	T	18	50267674	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.92348669788415E-5	0.006
18	47794045	T	A	18	50267675	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.97948379278441E-5	0.0
18	47794045	T	C	18	50267675	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.97948379278441E-5	0.0
18	47794045	T	G	18	50267675	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.97948379278441E-5	0.0
18	47796187	G	A	18	50269817	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_015845:exon14:c.C1573T:p.L525L;MBD1:NM_001204136:exon16:c.C1780T:p.L594L;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000269471:exon14:c.C1573T:p.L525L;ENSG00000141644:ENST00000590208:exon16:c.C1780T:p.L594L;ENSG00000141644:ENST00000588937:exon13:c.C1573T:p.L525L;	4.26028928487927E-4	.
18	47796187	G	C	18	50269817	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_015845:exon14:c.C1573G:p.L525V;MBD1:NM_001204136:exon16:c.C1780G:p.L594V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000269471:exon14:c.C1573G:p.L525V;ENSG00000141644:ENST00000590208:exon16:c.C1780G:p.L594V;ENSG00000141644:ENST00000588937:exon13:c.C1573G:p.L525V;	0.00148196052474857	.
18	47796187	G	T	18	50269817	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_015845:exon14:c.C1573A:p.L525M;MBD1:NM_001204136:exon16:c.C1780A:p.L594M;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000269471:exon14:c.C1573A:p.L525M;ENSG00000141644:ENST00000590208:exon16:c.C1780A:p.L594M;ENSG00000141644:ENST00000588937:exon13:c.C1573A:p.L525M;	0.292706552695191	.
18	47796188	A	C	18	50269818	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_015845:exon14:c.T1572G:p.S524R;MBD1:NM_001204136:exon16:c.T1779G:p.S593R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000269471:exon14:c.T1572G:p.S524R;ENSG00000141644:ENST00000590208:exon16:c.T1779G:p.S593R;ENSG00000141644:ENST00000588937:exon13:c.T1572G:p.S524R;	6.06463844544065E-5	.
18	47796188	A	G	18	50269818	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_015845:exon14:c.T1572C:p.S524S;MBD1:NM_001204136:exon16:c.T1779C:p.S593S;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000269471:exon14:c.T1572C:p.S524S;ENSG00000141644:ENST00000590208:exon16:c.T1779C:p.S593S;ENSG00000141644:ENST00000588937:exon13:c.T1572C:p.S524S;	2.16123567743465E-4	.
18	47796188	A	T	18	50269818	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_015845:exon14:c.T1572A:p.S524R;MBD1:NM_001204136:exon16:c.T1779A:p.S593R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000269471:exon14:c.T1572A:p.S524R;ENSG00000141644:ENST00000590208:exon16:c.T1779A:p.S593R;ENSG00000141644:ENST00000588937:exon13:c.T1572A:p.S524R;	2.12413852121166E-5	.
18	47796189	C	A	18	50269819	y	y	splicing	MBD1(NM_002384:exon16:c.1545-1G>T;NM_015847:exon17:c.1704-1G>T;NM_015846:exon18:c.1851-1G>T;NM_015845:exon15:c.1572-1G>T;NM_001204136:exon17:c.1779-1G>T;NM_015844:exon17:c.1683-1G>T)	.	.	splicing	ENSG00000141644(ENST00000353909:exon17:c.1704-1G>T;ENST00000349085:exon16:c.1545-1G>T;ENST00000436910:exon16:c.1644-1G>T;ENST00000347968:exon17:c.1683-1G>T;ENST00000269468:exon18:c.1851-1G>T;ENST00000269471:exon15:c.1572-1G>T;ENST00000590208:exon17:c.1779-1G>T;ENST00000588937:exon14:c.1572-1G>T;ENST00000424334:exon19:c.2004-1G>T;ENST00000585595:exon19:c.1926-1G>T;ENST00000589541:exon9:c.756-1G>T)	.	.	0.999965785919313	.
18	47796189	C	G	18	50269819	y	y	splicing	MBD1(NM_002384:exon16:c.1545-1G>C;NM_015847:exon17:c.1704-1G>C;NM_015846:exon18:c.1851-1G>C;NM_015845:exon15:c.1572-1G>C;NM_001204136:exon17:c.1779-1G>C;NM_015844:exon17:c.1683-1G>C)	.	.	splicing	ENSG00000141644(ENST00000353909:exon17:c.1704-1G>C;ENST00000349085:exon16:c.1545-1G>C;ENST00000436910:exon16:c.1644-1G>C;ENST00000347968:exon17:c.1683-1G>C;ENST00000269468:exon18:c.1851-1G>C;ENST00000269471:exon15:c.1572-1G>C;ENST00000590208:exon17:c.1779-1G>C;ENST00000588937:exon14:c.1572-1G>C;ENST00000424334:exon19:c.2004-1G>C;ENST00000585595:exon19:c.1926-1G>C;ENST00000589541:exon9:c.756-1G>C)	.	.	0.999965785919313	.
18	47796189	C	T	18	50269819	y	y	splicing	MBD1(NM_002384:exon16:c.1545-1G>A;NM_015847:exon17:c.1704-1G>A;NM_015846:exon18:c.1851-1G>A;NM_015845:exon15:c.1572-1G>A;NM_001204136:exon17:c.1779-1G>A;NM_015844:exon17:c.1683-1G>A)	.	.	splicing	ENSG00000141644(ENST00000353909:exon17:c.1704-1G>A;ENST00000349085:exon16:c.1545-1G>A;ENST00000436910:exon16:c.1644-1G>A;ENST00000347968:exon17:c.1683-1G>A;ENST00000269468:exon18:c.1851-1G>A;ENST00000269471:exon15:c.1572-1G>A;ENST00000590208:exon17:c.1779-1G>A;ENST00000588937:exon14:c.1572-1G>A;ENST00000424334:exon19:c.2004-1G>A;ENST00000585595:exon19:c.1926-1G>A;ENST00000589541:exon9:c.756-1G>A)	.	.	0.999965785919313	.
18	47796190	T	A	18	50269820	y	y	splicing	MBD1(NM_002384:exon16:c.1545-2A>T;NM_015847:exon17:c.1704-2A>T;NM_015846:exon18:c.1851-2A>T;NM_015845:exon15:c.1572-2A>T;NM_001204136:exon17:c.1779-2A>T;NM_015844:exon17:c.1683-2A>T)	.	.	splicing	ENSG00000141644(ENST00000353909:exon17:c.1704-2A>T;ENST00000349085:exon16:c.1545-2A>T;ENST00000436910:exon16:c.1644-2A>T;ENST00000347968:exon17:c.1683-2A>T;ENST00000269468:exon18:c.1851-2A>T;ENST00000269471:exon15:c.1572-2A>T;ENST00000590208:exon17:c.1779-2A>T;ENST00000588937:exon14:c.1572-2A>T;ENST00000424334:exon19:c.2004-2A>T;ENST00000585595:exon19:c.1926-2A>T;ENST00000589541:exon9:c.756-2A>T)	.	.	0.999871466280544	.
18	47796190	T	C	18	50269820	y	y	splicing	MBD1(NM_002384:exon16:c.1545-2A>G;NM_015847:exon17:c.1704-2A>G;NM_015846:exon18:c.1851-2A>G;NM_015845:exon15:c.1572-2A>G;NM_001204136:exon17:c.1779-2A>G;NM_015844:exon17:c.1683-2A>G)	.	.	splicing	ENSG00000141644(ENST00000353909:exon17:c.1704-2A>G;ENST00000349085:exon16:c.1545-2A>G;ENST00000436910:exon16:c.1644-2A>G;ENST00000347968:exon17:c.1683-2A>G;ENST00000269468:exon18:c.1851-2A>G;ENST00000269471:exon15:c.1572-2A>G;ENST00000590208:exon17:c.1779-2A>G;ENST00000588937:exon14:c.1572-2A>G;ENST00000424334:exon19:c.2004-2A>G;ENST00000585595:exon19:c.1926-2A>G;ENST00000589541:exon9:c.756-2A>G)	.	.	0.999871466280544	.
18	47796190	T	G	18	50269820	y	y	splicing	MBD1(NM_002384:exon16:c.1545-2A>C;NM_015847:exon17:c.1704-2A>C;NM_015846:exon18:c.1851-2A>C;NM_015845:exon15:c.1572-2A>C;NM_001204136:exon17:c.1779-2A>C;NM_015844:exon17:c.1683-2A>C)	.	.	splicing	ENSG00000141644(ENST00000353909:exon17:c.1704-2A>C;ENST00000349085:exon16:c.1545-2A>C;ENST00000436910:exon16:c.1644-2A>C;ENST00000347968:exon17:c.1683-2A>C;ENST00000269468:exon18:c.1851-2A>C;ENST00000269471:exon15:c.1572-2A>C;ENST00000590208:exon17:c.1779-2A>C;ENST00000588937:exon14:c.1572-2A>C;ENST00000424334:exon19:c.2004-2A>C;ENST00000585595:exon19:c.1926-2A>C;ENST00000589541:exon9:c.756-2A>C)	.	.	0.999871466280544	.
18	47796191	T	A	18	50269821	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	8.25679594874514E-4	.
18	47796191	T	C	18	50269821	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.154988672449896	.
18	47796191	T	G	18	50269821	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	6.48630234458091E-4	.
18	47796192	C	A	18	50269822	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	7.45713119899088E-4	.
18	47796192	C	G	18	50269822	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.77121388125148E-4	.
18	47796192	C	T	18	50269822	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	4.28825829285187E-4	.
18	47796193	A	C	18	50269823	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.963739652541955	.
18	47796193	A	G	18	50269823	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0379896773964767	.
18	47796193	A	T	18	50269823	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.952301699345656	.
18	47796194	A	C	18	50269824	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.970448475026301	.
18	47796194	A	G	18	50269824	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.00256129297492357	.
18	47796194	A	T	18	50269824	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.957171105569007	.
18	47796195	G	A	18	50269825	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0279814845598875	.
18	47796195	G	C	18	50269825	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.960292976768165	.
18	47796195	G	T	18	50269825	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.9686212100705	.
18	47796196	C	A	18	50269826	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0011127345455067	.
18	47796196	C	G	18	50269826	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	8.08985339291448E-4	.
18	47796196	C	T	18	50269826	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0171695890688368	.
18	47796197	T	A	18	50269827	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0036964692243428	.
18	47796197	T	C	18	50269827	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0014387903682719	.
18	47796197	T	G	18	50269827	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.00278279665234348	.
18	47796198	C	A	18	50269828	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.150463080971009	.
18	47796198	C	G	18	50269828	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.157945010257762	.
18	47796198	C	T	18	50269828	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.628873465260842	.
18	47796199	C	A	18	50269829	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.958818116704821	.
18	47796199	C	G	18	50269829	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.955286335900307	.
18	47796199	C	T	18	50269829	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.979907606088286	.
18	47796200	A	C	18	50269830	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.996953412191767	.
18	47796200	A	G	18	50269830	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.416352992412546	.
18	47796200	A	T	18	50269830	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.99757700662988	.
18	47796454	T	A	18	50270084	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.A1580T:p.E527V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000339998:exon14:c.A1580T:p.E527V;	2.08907846768824E-4	.
18	47796454	T	C	18	50270084	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.A1580G:p.E527G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000339998:exon14:c.A1580G:p.E527G;	2.63500120082585E-4	.
18	47796454	T	G	18	50270084	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.A1580C:p.E527A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000339998:exon14:c.A1580C:p.E527A;	2.70324969999789E-4	.
18	47796455	C	A	18	50270085	y	y	exonic	MBD1	stopgain SNV	MBD1:NM_001204142:exon14:c.G1579T:p.E527X;	exonic	ENSG00000141644	stopgain SNV	ENSG00000141644:ENST00000339998:exon14:c.G1579T:p.E527X;	3.14344088919333E-4	.
18	47796455	C	G	18	50270085	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.G1579C:p.E527Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000339998:exon14:c.G1579C:p.E527Q;	2.29788133236688E-5	.
18	47796455	C	T	18	50270085	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.G1579A:p.E527K;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000339998:exon14:c.G1579A:p.E527K;	9.3383729719925E-5	.
18	47796456	C	A	18	50270086	y	y	splicing	MBD1(NM_001204142:exon15:c.1579-1G>T)	.	.	splicing	ENSG00000141644(ENST00000339998:exon15:c.1579-1G>T)	.	.	6.13943173551035E-5	.
18	47796456	C	G	18	50270086	y	y	splicing	MBD1(NM_001204142:exon15:c.1579-1G>C)	.	.	splicing	ENSG00000141644(ENST00000339998:exon15:c.1579-1G>C)	.	.	6.13943173551035E-5	.
18	47796456	C	T	18	50270086	y	y	splicing	MBD1(NM_001204142:exon15:c.1579-1G>A)	.	.	splicing	ENSG00000141644(ENST00000339998:exon15:c.1579-1G>A)	.	.	8.82391411280246E-5	.
18	47796457	T	A	18	50270087	y	y	splicing	MBD1(NM_001204142:exon15:c.1579-2A>T)	.	.	splicing	ENSG00000141644(ENST00000339998:exon15:c.1579-2A>T)	.	.	2.93008933363103E-5	.
18	47796457	T	C	18	50270087	y	y	splicing	MBD1(NM_001204142:exon15:c.1579-2A>G)	.	.	splicing	ENSG00000141644(ENST00000339998:exon15:c.1579-2A>G)	.	.	2.93008933363103E-5	.
18	47796457	T	G	18	50270087	y	y	splicing	MBD1(NM_001204142:exon15:c.1579-2A>C)	.	.	splicing	ENSG00000141644(ENST00000339998:exon15:c.1579-2A>C)	.	.	2.93008933363103E-5	.
18	47796458	G	A	18	50270088	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.61830424473298E-4	.
18	47796458	G	C	18	50270088	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	8.90416159766882E-5	.
18	47796458	G	T	18	50270088	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.61830424473298E-4	.
18	47796459	G	A	18	50270089	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.26242811264188E-4	.
18	47796459	G	C	18	50270089	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.26242811264188E-4	.
18	47796459	G	T	18	50270089	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.26242811264188E-4	.
18	47796460	G	A	18	50270090	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.26242811264188E-4	.
18	47796460	G	C	18	50270090	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.26242811264188E-4	.
18	47796460	G	T	18	50270090	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.26242811264188E-4	.
18	47796461	G	A	18	50270091	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	2.25416595726793E-4	.
18	47796461	G	C	18	50270091	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	3.2171913668137E-4	.
18	47796461	G	T	18	50270091	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.7283616418062E-4	.
18	47796462	G	A	18	50270092	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.56070737290524E-4	.
18	47796462	G	C	18	50270092	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.10926356984157E-4	.
18	47796462	G	T	18	50270092	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.56070737290524E-4	.
18	47796463	A	C	18	50270093	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.08883903409709E-4	.
18	47796463	A	G	18	50270093	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.08883903409709E-4	.
18	47796463	A	T	18	50270093	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.27065453252493E-4	.
18	47796464	A	C	18	50270094	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	8.2572510070214E-5	.
18	47796464	A	G	18	50270094	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	8.2572510070214E-5	.
18	47796464	A	T	18	50270094	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	9.56186694429467E-5	.
18	47796465	A	C	18	50270095	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	2.03512558380896E-4	.
18	47796465	A	G	18	50270095	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	2.03512558380896E-4	.
18	47796465	A	T	18	50270095	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	2.03512558380896E-4	.
18	47796466	C	A	18	50270096	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	3.40341520544658E-5	.
18	47796466	C	G	18	50270096	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	3.25339911786878E-5	.
18	47796466	C	T	18	50270096	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	3.40341520544658E-5	.
18	47796467	A	C	18	50270097	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0256541646735775	.
18	47796467	A	G	18	50270097	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0256541646735775	.
18	47796467	A	T	18	50270097	y	y	intronic	MBD1	.	.	UTR3	ENSG00000141644	.	.	0.0415839846423267	.
18	47797831	A	C	18	50271461	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	5.15494709416875E-5	0.0
18	47797831	A	G	18	50271461	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	5.15494709416875E-5	0.0
18	47797831	A	T	18	50271461	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	8.93131076677124E-5	0.0
18	47797832	A	C	18	50271462	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	5.25211152755068E-5	0.0
18	47797832	A	G	18	50271462	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	5.25211152755068E-5	0.0
18	47797832	A	T	18	50271462	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	5.25211152755068E-5	0.0
18	47797833	T	A	18	50271463	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.51591174045998E-4	0.006
18	47797833	T	C	18	50271463	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.00961143325455E-4	0.008
18	47797833	T	G	18	50271463	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.00961143325455E-4	0.008
18	47797834	A	C	18	50271464	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.2194139863653E-4	0.0
18	47797834	A	G	18	50271464	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.2194139863653E-4	0.0
18	47797834	A	T	18	50271464	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.99631197343012E-4	0.01
18	47797835	T	A	18	50271465	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	8.89371736124219E-4	0.0
18	47797835	T	C	18	50271465	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	9.80257671126134E-4	0.0
18	47797835	T	G	18	50271465	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	9.80257671126134E-4	0.002
18	47797836	C	A	18	50271466	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	3.35341279017553E-4	0.008
18	47797836	C	G	18	50271466	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	2.99904535276046E-4	0.008
18	47797836	C	T	18	50271466	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	4.22959446752711E-4	0.012
18	47797837	A	C	18	50271467	y	y	splicing	MBD1(NM_001204139:exon17:c.1850+2T>G;NM_002384:exon15:c.1544+2T>G;NM_015847:exon16:c.1703+2T>G;NM_015846:exon17:c.1850+2T>G;NM_015844:exon16:c.1682+2T>G)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1850+2T>G;ENST00000353909:exon16:c.1703+2T>G;ENST00000349085:exon15:c.1544+2T>G;ENST00000436910:exon15:c.1643+2T>G;ENST00000347968:exon16:c.1682+2T>G;ENST00000269468:exon17:c.1850+2T>G;ENST00000424334:exon18:c.2003+2T>G;ENST00000585595:exon18:c.1925+2T>G;ENST00000589541:exon8:c.755+2T>G)	.	.	0.0302399206701341	0.152
18	47797837	A	G	18	50271467	y	y	splicing	MBD1(NM_001204139:exon17:c.1850+2T>C;NM_002384:exon15:c.1544+2T>C;NM_015847:exon16:c.1703+2T>C;NM_015846:exon17:c.1850+2T>C;NM_015844:exon16:c.1682+2T>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1850+2T>C;ENST00000353909:exon16:c.1703+2T>C;ENST00000349085:exon15:c.1544+2T>C;ENST00000436910:exon15:c.1643+2T>C;ENST00000347968:exon16:c.1682+2T>C;ENST00000269468:exon17:c.1850+2T>C;ENST00000424334:exon18:c.2003+2T>C;ENST00000585595:exon18:c.1925+2T>C;ENST00000589541:exon8:c.755+2T>C)	.	.	0.0271718039049261	0.144
18	47797837	A	T	18	50271467	y	y	splicing	MBD1(NM_001204139:exon17:c.1850+2T>A;NM_002384:exon15:c.1544+2T>A;NM_015847:exon16:c.1703+2T>A;NM_015846:exon17:c.1850+2T>A;NM_015844:exon16:c.1682+2T>A)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1850+2T>A;ENST00000353909:exon16:c.1703+2T>A;ENST00000349085:exon15:c.1544+2T>A;ENST00000436910:exon15:c.1643+2T>A;ENST00000347968:exon16:c.1682+2T>A;ENST00000269468:exon17:c.1850+2T>A;ENST00000424334:exon18:c.2003+2T>A;ENST00000585595:exon18:c.1925+2T>A;ENST00000589541:exon8:c.755+2T>A)	.	.	0.0353323860210687	0.156
18	47797838	C	A	18	50271468	y	y	splicing	MBD1(NM_001204139:exon17:c.1850+1G>T;NM_002384:exon15:c.1544+1G>T;NM_015847:exon16:c.1703+1G>T;NM_015846:exon17:c.1850+1G>T;NM_015844:exon16:c.1682+1G>T)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1850+1G>T;ENST00000353909:exon16:c.1703+1G>T;ENST00000349085:exon15:c.1544+1G>T;ENST00000436910:exon15:c.1643+1G>T;ENST00000347968:exon16:c.1682+1G>T;ENST00000269468:exon17:c.1850+1G>T;ENST00000424334:exon18:c.2003+1G>T;ENST00000585595:exon18:c.1925+1G>T;ENST00000589541:exon8:c.755+1G>T)	.	.	0.363489343064334	0.476
18	47797838	C	G	18	50271468	y	y	splicing	MBD1(NM_001204139:exon17:c.1850+1G>C;NM_002384:exon15:c.1544+1G>C;NM_015847:exon16:c.1703+1G>C;NM_015846:exon17:c.1850+1G>C;NM_015844:exon16:c.1682+1G>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1850+1G>C;ENST00000353909:exon16:c.1703+1G>C;ENST00000349085:exon15:c.1544+1G>C;ENST00000436910:exon15:c.1643+1G>C;ENST00000347968:exon16:c.1682+1G>C;ENST00000269468:exon17:c.1850+1G>C;ENST00000424334:exon18:c.2003+1G>C;ENST00000585595:exon18:c.1925+1G>C;ENST00000589541:exon8:c.755+1G>C)	.	.	0.33840882681668	0.462
18	47797838	C	T	18	50271468	y	y	splicing	MBD1(NM_001204139:exon17:c.1850+1G>A;NM_002384:exon15:c.1544+1G>A;NM_015847:exon16:c.1703+1G>A;NM_015846:exon17:c.1850+1G>A;NM_015844:exon16:c.1682+1G>A)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1850+1G>A;ENST00000353909:exon16:c.1703+1G>A;ENST00000349085:exon15:c.1544+1G>A;ENST00000436910:exon15:c.1643+1G>A;ENST00000347968:exon16:c.1682+1G>A;ENST00000269468:exon17:c.1850+1G>A;ENST00000424334:exon18:c.2003+1G>A;ENST00000585595:exon18:c.1925+1G>A;ENST00000589541:exon8:c.755+1G>A)	.	.	0.401468755823008	0.492
18	47797839	C	A	18	50271469	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	3.67497088968359E-4	0.01
18	47797839	C	G	18	50271469	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	3.67497088968359E-4	0.012
18	47797839	C	T	18	50271469	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	3.33405131806316E-4	0.01
18	47797840	T	A	18	50271470	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.82254846753964E-4	0.002
18	47797840	T	C	18	50271470	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.32658667526046E-4	0.002
18	47797840	T	G	18	50271470	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	1.77330771774935E-4	0.002
18	47797841	T	A	18	50271471	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	7.15838005414123E-4	0.0
18	47797841	T	C	18	50271471	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	7.91335385279169E-4	0.0
18	47797841	T	G	18	50271471	y	y	UTR3	MBD1	.	.	UTR3	ENSG00000141644	.	.	7.91335385279169E-4	0.0
18	47797909	A	C	18	50271539	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon14:c.T1474G:p.S492A;MBD1:NM_001204151:exon13:c.T1573G:p.S525A;MBD1:NM_001204137:exon17:c.T1855G:p.S619A;MBD1:NM_001204138:exon17:c.T1852G:p.S618A;MBD1:NM_015846:exon16:c.T1780G:p.S594A;MBD1:NM_001204140:exon16:c.T1687G:p.S563A;MBD1:NM_001204139:exon16:c.T1780G:p.S594A;MBD1:NM_015844:exon15:c.T1612G:p.S538A;MBD1:NM_015847:exon15:c.T1633G:p.S545A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon17:c.T1855G:p.S619A;ENSG00000141644:ENST00000424334:exon17:c.T1933G:p.S645A;ENSG00000141644:ENST00000591535:exon13:c.T1573G:p.S525A;ENSG00000141644:ENST00000398493:exon15:c.T1612G:p.S538A;ENSG00000141644:ENST00000398488:exon13:c.T1474G:p.S492A;ENSG00000141644:ENST00000353909:exon15:c.T1633G:p.S545A;ENSG00000141644:ENST00000589541:exon7:c.T685G:p.S229A;ENSG00000141644:ENST00000591416:exon16:c.T1780G:p.S594A;ENSG00000141644:ENST00000457839:exon17:c.T1855G:p.S619A;ENSG00000141644:ENST00000347968:exon15:c.T1612G:p.S538A;ENSG00000141644:ENST00000382948:exon16:c.T1780G:p.S594A;ENSG00000141644:ENST00000349085:exon14:c.T1474G:p.S492A;ENSG00000141644:ENST00000436910:exon14:c.T1573G:p.S525A;ENSG00000141644:ENST00000269468:exon16:c.T1780G:p.S594A;ENSG00000141644:ENST00000398495:exon15:c.T1663G:p.S555A;	1.74359842730815E-4	0.002
18	47797909	A	G	18	50271539	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon14:c.T1474C:p.S492P;MBD1:NM_001204151:exon13:c.T1573C:p.S525P;MBD1:NM_001204137:exon17:c.T1855C:p.S619P;MBD1:NM_001204138:exon17:c.T1852C:p.S618P;MBD1:NM_015846:exon16:c.T1780C:p.S594P;MBD1:NM_001204140:exon16:c.T1687C:p.S563P;MBD1:NM_001204139:exon16:c.T1780C:p.S594P;MBD1:NM_015844:exon15:c.T1612C:p.S538P;MBD1:NM_015847:exon15:c.T1633C:p.S545P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon17:c.T1855C:p.S619P;ENSG00000141644:ENST00000424334:exon17:c.T1933C:p.S645P;ENSG00000141644:ENST00000591535:exon13:c.T1573C:p.S525P;ENSG00000141644:ENST00000398493:exon15:c.T1612C:p.S538P;ENSG00000141644:ENST00000398488:exon13:c.T1474C:p.S492P;ENSG00000141644:ENST00000353909:exon15:c.T1633C:p.S545P;ENSG00000141644:ENST00000589541:exon7:c.T685C:p.S229P;ENSG00000141644:ENST00000591416:exon16:c.T1780C:p.S594P;ENSG00000141644:ENST00000457839:exon17:c.T1855C:p.S619P;ENSG00000141644:ENST00000347968:exon15:c.T1612C:p.S538P;ENSG00000141644:ENST00000382948:exon16:c.T1780C:p.S594P;ENSG00000141644:ENST00000349085:exon14:c.T1474C:p.S492P;ENSG00000141644:ENST00000436910:exon14:c.T1573C:p.S525P;ENSG00000141644:ENST00000269468:exon16:c.T1780C:p.S594P;ENSG00000141644:ENST00000398495:exon15:c.T1663C:p.S555P;	0.0069180409540431	0.058
18	47797909	A	T	18	50271539	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon14:c.T1474A:p.S492T;MBD1:NM_001204151:exon13:c.T1573A:p.S525T;MBD1:NM_001204137:exon17:c.T1855A:p.S619T;MBD1:NM_001204138:exon17:c.T1852A:p.S618T;MBD1:NM_015846:exon16:c.T1780A:p.S594T;MBD1:NM_001204140:exon16:c.T1687A:p.S563T;MBD1:NM_001204139:exon16:c.T1780A:p.S594T;MBD1:NM_015844:exon15:c.T1612A:p.S538T;MBD1:NM_015847:exon15:c.T1633A:p.S545T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon17:c.T1855A:p.S619T;ENSG00000141644:ENST00000424334:exon17:c.T1933A:p.S645T;ENSG00000141644:ENST00000591535:exon13:c.T1573A:p.S525T;ENSG00000141644:ENST00000398493:exon15:c.T1612A:p.S538T;ENSG00000141644:ENST00000398488:exon13:c.T1474A:p.S492T;ENSG00000141644:ENST00000353909:exon15:c.T1633A:p.S545T;ENSG00000141644:ENST00000589541:exon7:c.T685A:p.S229T;ENSG00000141644:ENST00000591416:exon16:c.T1780A:p.S594T;ENSG00000141644:ENST00000457839:exon17:c.T1855A:p.S619T;ENSG00000141644:ENST00000347968:exon15:c.T1612A:p.S538T;ENSG00000141644:ENST00000382948:exon16:c.T1780A:p.S594T;ENSG00000141644:ENST00000349085:exon14:c.T1474A:p.S492T;ENSG00000141644:ENST00000436910:exon14:c.T1573A:p.S525T;ENSG00000141644:ENST00000269468:exon16:c.T1780A:p.S594T;ENSG00000141644:ENST00000398495:exon15:c.T1663A:p.S555T;	8.89371736124219E-4	0.002
18	47797910	C	A	18	50271540	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon14:c.G1473T:p.R491S;MBD1:NM_001204151:exon13:c.G1572T:p.R524S;MBD1:NM_001204137:exon17:c.G1854T:p.R618S;MBD1:NM_001204138:exon17:c.G1851T:p.R617S;MBD1:NM_015846:exon16:c.G1779T:p.R593S;MBD1:NM_001204140:exon16:c.G1686T:p.R562S;MBD1:NM_001204139:exon16:c.G1779T:p.R593S;MBD1:NM_015844:exon15:c.G1611T:p.R537S;MBD1:NM_015847:exon15:c.G1632T:p.R544S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon17:c.G1854T:p.R618S;ENSG00000141644:ENST00000424334:exon17:c.G1932T:p.R644S;ENSG00000141644:ENST00000591535:exon13:c.G1572T:p.R524S;ENSG00000141644:ENST00000398493:exon15:c.G1611T:p.R537S;ENSG00000141644:ENST00000398488:exon13:c.G1473T:p.R491S;ENSG00000141644:ENST00000353909:exon15:c.G1632T:p.R544S;ENSG00000141644:ENST00000589541:exon7:c.G684T:p.R228S;ENSG00000141644:ENST00000591416:exon16:c.G1779T:p.R593S;ENSG00000141644:ENST00000457839:exon17:c.G1854T:p.R618S;ENSG00000141644:ENST00000347968:exon15:c.G1611T:p.R537S;ENSG00000141644:ENST00000382948:exon16:c.G1779T:p.R593S;ENSG00000141644:ENST00000349085:exon14:c.G1473T:p.R491S;ENSG00000141644:ENST00000436910:exon14:c.G1572T:p.R524S;ENSG00000141644:ENST00000269468:exon16:c.G1779T:p.R593S;ENSG00000141644:ENST00000398495:exon15:c.G1662T:p.R554S;	0.0152979872413424	0.192
18	47797910	C	G	18	50271540	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon14:c.G1473C:p.R491S;MBD1:NM_001204151:exon13:c.G1572C:p.R524S;MBD1:NM_001204137:exon17:c.G1854C:p.R618S;MBD1:NM_001204138:exon17:c.G1851C:p.R617S;MBD1:NM_015846:exon16:c.G1779C:p.R593S;MBD1:NM_001204140:exon16:c.G1686C:p.R562S;MBD1:NM_001204139:exon16:c.G1779C:p.R593S;MBD1:NM_015844:exon15:c.G1611C:p.R537S;MBD1:NM_015847:exon15:c.G1632C:p.R544S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon17:c.G1854C:p.R618S;ENSG00000141644:ENST00000424334:exon17:c.G1932C:p.R644S;ENSG00000141644:ENST00000591535:exon13:c.G1572C:p.R524S;ENSG00000141644:ENST00000398493:exon15:c.G1611C:p.R537S;ENSG00000141644:ENST00000398488:exon13:c.G1473C:p.R491S;ENSG00000141644:ENST00000353909:exon15:c.G1632C:p.R544S;ENSG00000141644:ENST00000589541:exon7:c.G684C:p.R228S;ENSG00000141644:ENST00000591416:exon16:c.G1779C:p.R593S;ENSG00000141644:ENST00000457839:exon17:c.G1854C:p.R618S;ENSG00000141644:ENST00000347968:exon15:c.G1611C:p.R537S;ENSG00000141644:ENST00000382948:exon16:c.G1779C:p.R593S;ENSG00000141644:ENST00000349085:exon14:c.G1473C:p.R491S;ENSG00000141644:ENST00000436910:exon14:c.G1572C:p.R524S;ENSG00000141644:ENST00000269468:exon16:c.G1779C:p.R593S;ENSG00000141644:ENST00000398495:exon15:c.G1662C:p.R554S;	0.0152979872413424	0.214
18	47797910	C	T	18	50271540	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon14:c.G1473A:p.R491R;MBD1:NM_001204151:exon13:c.G1572A:p.R524R;MBD1:NM_001204137:exon17:c.G1854A:p.R618R;MBD1:NM_001204138:exon17:c.G1851A:p.R617R;MBD1:NM_015846:exon16:c.G1779A:p.R593R;MBD1:NM_001204140:exon16:c.G1686A:p.R562R;MBD1:NM_001204139:exon16:c.G1779A:p.R593R;MBD1:NM_015844:exon15:c.G1611A:p.R537R;MBD1:NM_015847:exon15:c.G1632A:p.R544R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon17:c.G1854A:p.R618R;ENSG00000141644:ENST00000424334:exon17:c.G1932A:p.R644R;ENSG00000141644:ENST00000591535:exon13:c.G1572A:p.R524R;ENSG00000141644:ENST00000398493:exon15:c.G1611A:p.R537R;ENSG00000141644:ENST00000398488:exon13:c.G1473A:p.R491R;ENSG00000141644:ENST00000353909:exon15:c.G1632A:p.R544R;ENSG00000141644:ENST00000589541:exon7:c.G684A:p.R228R;ENSG00000141644:ENST00000591416:exon16:c.G1779A:p.R593R;ENSG00000141644:ENST00000457839:exon17:c.G1854A:p.R618R;ENSG00000141644:ENST00000347968:exon15:c.G1611A:p.R537R;ENSG00000141644:ENST00000382948:exon16:c.G1779A:p.R593R;ENSG00000141644:ENST00000349085:exon14:c.G1473A:p.R491R;ENSG00000141644:ENST00000436910:exon14:c.G1572A:p.R524R;ENSG00000141644:ENST00000269468:exon16:c.G1779A:p.R593R;ENSG00000141644:ENST00000398495:exon15:c.G1662A:p.R554R;	3.03056377962419E-4	0.01
18	47797911	C	A	18	50271541	y	y	splicing	MBD1(NM_001204139:exon17:c.1779-1G>T;NM_002384:exon15:c.1473-1G>T;NM_015847:exon16:c.1632-1G>T;NM_015846:exon17:c.1779-1G>T;NM_015844:exon16:c.1611-1G>T;NM_001204140:exon17:c.1686-1G>T;NM_001204138:exon18:c.1851-1G>T;NM_001204137:exon18:c.1854-1G>T;NM_001204151:exon14:c.1572-1G>T)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1779-1G>T;ENST00000353909:exon16:c.1632-1G>T;ENST00000591416:exon17:c.1779-1G>T;ENST00000349085:exon15:c.1473-1G>T;ENST00000436910:exon15:c.1572-1G>T;ENST00000347968:exon16:c.1611-1G>T;ENST00000269468:exon17:c.1779-1G>T;ENST00000424334:exon18:c.1932-1G>T;ENST00000585595:exon18:c.1854-1G>T;ENST00000589541:exon8:c.684-1G>T;ENST00000398495:exon16:c.1662-1G>T;ENST00000457839:exon18:c.1854-1G>T;ENST00000398493:exon16:c.1611-1G>T;ENST00000591535:exon14:c.1572-1G>T;ENST00000398488:exon14:c.1473-1G>T)	.	.	0.993733916693694	0.866
18	47797911	C	G	18	50271541	y	y	splicing	MBD1(NM_001204139:exon17:c.1779-1G>C;NM_002384:exon15:c.1473-1G>C;NM_015847:exon16:c.1632-1G>C;NM_015846:exon17:c.1779-1G>C;NM_015844:exon16:c.1611-1G>C;NM_001204140:exon17:c.1686-1G>C;NM_001204138:exon18:c.1851-1G>C;NM_001204137:exon18:c.1854-1G>C;NM_001204151:exon14:c.1572-1G>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1779-1G>C;ENST00000353909:exon16:c.1632-1G>C;ENST00000591416:exon17:c.1779-1G>C;ENST00000349085:exon15:c.1473-1G>C;ENST00000436910:exon15:c.1572-1G>C;ENST00000347968:exon16:c.1611-1G>C;ENST00000269468:exon17:c.1779-1G>C;ENST00000424334:exon18:c.1932-1G>C;ENST00000585595:exon18:c.1854-1G>C;ENST00000589541:exon8:c.684-1G>C;ENST00000398495:exon16:c.1662-1G>C;ENST00000457839:exon18:c.1854-1G>C;ENST00000398493:exon16:c.1611-1G>C;ENST00000591535:exon14:c.1572-1G>C;ENST00000398488:exon14:c.1473-1G>C)	.	.	0.993733916693694	0.872
18	47797911	C	T	18	50271541	y	y	splicing	MBD1(NM_001204139:exon17:c.1779-1G>A;NM_002384:exon15:c.1473-1G>A;NM_015847:exon16:c.1632-1G>A;NM_015846:exon17:c.1779-1G>A;NM_015844:exon16:c.1611-1G>A;NM_001204140:exon17:c.1686-1G>A;NM_001204138:exon18:c.1851-1G>A;NM_001204137:exon18:c.1854-1G>A;NM_001204151:exon14:c.1572-1G>A)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1779-1G>A;ENST00000353909:exon16:c.1632-1G>A;ENST00000591416:exon17:c.1779-1G>A;ENST00000349085:exon15:c.1473-1G>A;ENST00000436910:exon15:c.1572-1G>A;ENST00000347968:exon16:c.1611-1G>A;ENST00000269468:exon17:c.1779-1G>A;ENST00000424334:exon18:c.1932-1G>A;ENST00000585595:exon18:c.1854-1G>A;ENST00000589541:exon8:c.684-1G>A;ENST00000398495:exon16:c.1662-1G>A;ENST00000457839:exon18:c.1854-1G>A;ENST00000398493:exon16:c.1611-1G>A;ENST00000591535:exon14:c.1572-1G>A;ENST00000398488:exon14:c.1473-1G>A)	.	.	0.993733916693694	0.868
18	47797912	T	A	18	50271542	y	y	splicing	MBD1(NM_001204139:exon17:c.1779-2A>T;NM_002384:exon15:c.1473-2A>T;NM_015847:exon16:c.1632-2A>T;NM_015846:exon17:c.1779-2A>T;NM_015844:exon16:c.1611-2A>T;NM_001204140:exon17:c.1686-2A>T;NM_001204138:exon18:c.1851-2A>T;NM_001204137:exon18:c.1854-2A>T;NM_001204151:exon14:c.1572-2A>T)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1779-2A>T;ENST00000353909:exon16:c.1632-2A>T;ENST00000591416:exon17:c.1779-2A>T;ENST00000349085:exon15:c.1473-2A>T;ENST00000436910:exon15:c.1572-2A>T;ENST00000347968:exon16:c.1611-2A>T;ENST00000269468:exon17:c.1779-2A>T;ENST00000424334:exon18:c.1932-2A>T;ENST00000585595:exon18:c.1854-2A>T;ENST00000589541:exon8:c.684-2A>T;ENST00000398495:exon16:c.1662-2A>T;ENST00000457839:exon18:c.1854-2A>T;ENST00000398493:exon16:c.1611-2A>T;ENST00000591535:exon14:c.1572-2A>T;ENST00000398488:exon14:c.1473-2A>T)	.	.	0.911103709025019	0.768
18	47797912	T	C	18	50271542	y	y	splicing	MBD1(NM_001204139:exon17:c.1779-2A>G;NM_002384:exon15:c.1473-2A>G;NM_015847:exon16:c.1632-2A>G;NM_015846:exon17:c.1779-2A>G;NM_015844:exon16:c.1611-2A>G;NM_001204140:exon17:c.1686-2A>G;NM_001204138:exon18:c.1851-2A>G;NM_001204137:exon18:c.1854-2A>G;NM_001204151:exon14:c.1572-2A>G)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1779-2A>G;ENST00000353909:exon16:c.1632-2A>G;ENST00000591416:exon17:c.1779-2A>G;ENST00000349085:exon15:c.1473-2A>G;ENST00000436910:exon15:c.1572-2A>G;ENST00000347968:exon16:c.1611-2A>G;ENST00000269468:exon17:c.1779-2A>G;ENST00000424334:exon18:c.1932-2A>G;ENST00000585595:exon18:c.1854-2A>G;ENST00000589541:exon8:c.684-2A>G;ENST00000398495:exon16:c.1662-2A>G;ENST00000457839:exon18:c.1854-2A>G;ENST00000398493:exon16:c.1611-2A>G;ENST00000591535:exon14:c.1572-2A>G;ENST00000398488:exon14:c.1473-2A>G)	.	.	0.911103709025019	0.776
18	47797912	T	G	18	50271542	y	y	splicing	MBD1(NM_001204139:exon17:c.1779-2A>C;NM_002384:exon15:c.1473-2A>C;NM_015847:exon16:c.1632-2A>C;NM_015846:exon17:c.1779-2A>C;NM_015844:exon16:c.1611-2A>C;NM_001204140:exon17:c.1686-2A>C;NM_001204138:exon18:c.1851-2A>C;NM_001204137:exon18:c.1854-2A>C;NM_001204151:exon14:c.1572-2A>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon17:c.1779-2A>C;ENST00000353909:exon16:c.1632-2A>C;ENST00000591416:exon17:c.1779-2A>C;ENST00000349085:exon15:c.1473-2A>C;ENST00000436910:exon15:c.1572-2A>C;ENST00000347968:exon16:c.1611-2A>C;ENST00000269468:exon17:c.1779-2A>C;ENST00000424334:exon18:c.1932-2A>C;ENST00000585595:exon18:c.1854-2A>C;ENST00000589541:exon8:c.684-2A>C;ENST00000398495:exon16:c.1662-2A>C;ENST00000457839:exon18:c.1854-2A>C;ENST00000398493:exon16:c.1611-2A>C;ENST00000591535:exon14:c.1572-2A>C;ENST00000398488:exon14:c.1473-2A>C)	.	.	0.911103709025019	0.776
18	47797913	A	C	18	50271543	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.92924058340623E-4	0.014
18	47797913	A	G	18	50271543	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.92924058340623E-4	0.002
18	47797913	A	T	18	50271543	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.92924058340623E-4	0.004
18	47797914	G	A	18	50271544	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00261102217652179	0.056
18	47797914	G	C	18	50271544	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00233566774876716	0.026
18	47797914	G	T	18	50271544	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00261102217652179	0.06
18	47797915	G	A	18	50271545	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.38252604778196E-4	0.028
18	47797915	G	C	18	50271545	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.38252604778196E-4	0.03
18	47797915	G	T	18	50271545	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.38252604778196E-4	0.034
18	47797916	G	A	18	50271546	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.5318124408208E-4	0.004
18	47797916	G	C	18	50271546	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.39624610274703E-4	0.042
18	47797916	G	T	18	50271546	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.5318124408208E-4	0.006
18	47797917	A	C	18	50271547	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.80257671126134E-4	0.004
18	47797917	A	G	18	50271547	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.80257671126134E-4	0.008
18	47797917	A	T	18	50271547	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.80257671126134E-4	0.004
18	47797918	A	C	18	50271548	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00649551328494723	0.024
18	47797918	A	G	18	50271548	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00649551328494723	0.024
18	47797918	A	T	18	50271548	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00676797796995896	0.026
18	47797919	A	C	18	50271549	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.1289622372479	0.462
18	47797919	A	G	18	50271549	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.1289622372479	0.462
18	47797919	A	T	18	50271549	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.1289622372479	0.43
18	47797920	A	C	18	50271550	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.803605016897643	0.756
18	47797920	A	G	18	50271550	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.803605016897643	0.758
18	47797920	A	T	18	50271550	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.803605016897643	0.744
18	47797921	G	A	18	50271551	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00635346852144524	0.096
18	47797921	G	C	18	50271551	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00353321288005901	0.09
18	47797921	G	T	18	50271551	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00541429917860306	0.096
18	47797922	G	A	18	50271552	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.993733916693694	0.866
18	47797922	G	C	18	50271552	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.993733916693694	0.872
18	47797922	G	T	18	50271552	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.993733916693694	0.868
18	47799039	G	A	18	50272669	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.88631264466867E-4	0.034
18	47799039	G	C	18	50272669	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.22091716409593E-4	0.066
18	47799039	G	T	18	50272669	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.16878535644105E-4	0.052
18	47799040	G	A	18	50272670	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00414595828544715	0.22
18	47799040	G	C	18	50272670	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00167889434520716	0.028
18	47799040	G	T	18	50272670	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.50890083520383E-4	0.014
18	47799041	G	A	18	50272671	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00238149507746192	0.018
18	47799041	G	C	18	50272671	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0304805950931122	0.18
18	47799041	G	T	18	50272671	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0704073196333887	0.24
18	47799042	C	A	18	50272672	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999982489778049	0.982
18	47799042	C	G	18	50272672	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999917050436117	0.852
18	47799042	C	T	18	50272672	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999853119831133	0.916
18	47799043	A	C	18	50272673	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.42097769936917E-4	0.052
18	47799043	A	G	18	50272673	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0215883919275552	0.252
18	47799043	A	T	18	50272673	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.10788698563456E-4	0.046
18	47799044	C	A	18	50272674	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.78306912002159	0.504
18	47799044	C	G	18	50272674	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.319915590914117	0.504
18	47799044	C	T	18	50272674	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.24343255139495E-4	0.04
18	47799045	A	C	18	50272675	y	y	splicing	MBD1(NM_001204139:exon16:c.1778+2T>G;NM_001204141:exon15:c.1628+2T>G;NM_002384:exon14:c.1472+2T>G;NM_015847:exon15:c.1631+2T>G;NM_015846:exon16:c.1778+2T>G;NM_015845:exon14:c.1571+2T>G;NM_001204136:exon16:c.1778+2T>G;NM_015844:exon15:c.1610+2T>G;NM_001204143:exon14:c.1472+2T>G;NM_001204140:exon16:c.1685+2T>G;NM_001204138:exon17:c.1850+2T>G;NM_001204137:exon17:c.1853+2T>G;NM_001204151:exon13:c.1571+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1628+2T>G;ENST00000592060:exon11:c.1174+2T>G;ENST00000382948:exon16:c.1778+2T>G;ENST00000353909:exon15:c.1631+2T>G;ENST00000591416:exon16:c.1778+2T>G;ENST00000349085:exon14:c.1472+2T>G;ENST00000436910:exon14:c.1571+2T>G;ENST00000347968:exon15:c.1610+2T>G;ENST00000269468:exon16:c.1778+2T>G;ENST00000269471:exon14:c.1571+2T>G;ENST00000590208:exon16:c.1778+2T>G;ENST00000587605:exon14:c.1472+2T>G;ENST00000588937:exon13:c.1571+2T>G;ENST00000424334:exon17:c.1931+2T>G;ENST00000585595:exon17:c.1853+2T>G;ENST00000589541:exon7:c.683+2T>G;ENST00000398495:exon15:c.1661+2T>G;ENST00000457839:exon17:c.1853+2T>G;ENST00000398493:exon15:c.1610+2T>G;ENST00000591535:exon13:c.1571+2T>G;ENST00000398488:exon13:c.1472+2T>G)	.	.	0.999988247793601	0.926
18	47799045	A	G	18	50272675	y	y	splicing	MBD1(NM_001204139:exon16:c.1778+2T>C;NM_001204141:exon15:c.1628+2T>C;NM_002384:exon14:c.1472+2T>C;NM_015847:exon15:c.1631+2T>C;NM_015846:exon16:c.1778+2T>C;NM_015845:exon14:c.1571+2T>C;NM_001204136:exon16:c.1778+2T>C;NM_015844:exon15:c.1610+2T>C;NM_001204143:exon14:c.1472+2T>C;NM_001204140:exon16:c.1685+2T>C;NM_001204138:exon17:c.1850+2T>C;NM_001204137:exon17:c.1853+2T>C;NM_001204151:exon13:c.1571+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1628+2T>C;ENST00000592060:exon11:c.1174+2T>C;ENST00000382948:exon16:c.1778+2T>C;ENST00000353909:exon15:c.1631+2T>C;ENST00000591416:exon16:c.1778+2T>C;ENST00000349085:exon14:c.1472+2T>C;ENST00000436910:exon14:c.1571+2T>C;ENST00000347968:exon15:c.1610+2T>C;ENST00000269468:exon16:c.1778+2T>C;ENST00000269471:exon14:c.1571+2T>C;ENST00000590208:exon16:c.1778+2T>C;ENST00000587605:exon14:c.1472+2T>C;ENST00000588937:exon13:c.1571+2T>C;ENST00000424334:exon17:c.1931+2T>C;ENST00000585595:exon17:c.1853+2T>C;ENST00000589541:exon7:c.683+2T>C;ENST00000398495:exon15:c.1661+2T>C;ENST00000457839:exon17:c.1853+2T>C;ENST00000398493:exon15:c.1610+2T>C;ENST00000591535:exon13:c.1571+2T>C;ENST00000398488:exon13:c.1472+2T>C)	.	.	0.999929727175276	0.86
18	47799045	A	T	18	50272675	y	y	splicing	MBD1(NM_001204139:exon16:c.1778+2T>A;NM_001204141:exon15:c.1628+2T>A;NM_002384:exon14:c.1472+2T>A;NM_015847:exon15:c.1631+2T>A;NM_015846:exon16:c.1778+2T>A;NM_015845:exon14:c.1571+2T>A;NM_001204136:exon16:c.1778+2T>A;NM_015844:exon15:c.1610+2T>A;NM_001204143:exon14:c.1472+2T>A;NM_001204140:exon16:c.1685+2T>A;NM_001204138:exon17:c.1850+2T>A;NM_001204137:exon17:c.1853+2T>A;NM_001204151:exon13:c.1571+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1628+2T>A;ENST00000592060:exon11:c.1174+2T>A;ENST00000382948:exon16:c.1778+2T>A;ENST00000353909:exon15:c.1631+2T>A;ENST00000591416:exon16:c.1778+2T>A;ENST00000349085:exon14:c.1472+2T>A;ENST00000436910:exon14:c.1571+2T>A;ENST00000347968:exon15:c.1610+2T>A;ENST00000269468:exon16:c.1778+2T>A;ENST00000269471:exon14:c.1571+2T>A;ENST00000590208:exon16:c.1778+2T>A;ENST00000587605:exon14:c.1472+2T>A;ENST00000588937:exon13:c.1571+2T>A;ENST00000424334:exon17:c.1931+2T>A;ENST00000585595:exon17:c.1853+2T>A;ENST00000589541:exon7:c.683+2T>A;ENST00000398495:exon15:c.1661+2T>A;ENST00000457839:exon17:c.1853+2T>A;ENST00000398493:exon15:c.1610+2T>A;ENST00000591535:exon13:c.1571+2T>A;ENST00000398488:exon13:c.1472+2T>A)	.	.	0.999988247793601	0.926
18	47799046	C	A	18	50272676	y	y	splicing	MBD1(NM_001204139:exon16:c.1778+1G>T;NM_001204141:exon15:c.1628+1G>T;NM_002384:exon14:c.1472+1G>T;NM_015847:exon15:c.1631+1G>T;NM_015846:exon16:c.1778+1G>T;NM_015845:exon14:c.1571+1G>T;NM_001204136:exon16:c.1778+1G>T;NM_015844:exon15:c.1610+1G>T;NM_001204143:exon14:c.1472+1G>T;NM_001204140:exon16:c.1685+1G>T;NM_001204138:exon17:c.1850+1G>T;NM_001204137:exon17:c.1853+1G>T;NM_001204151:exon13:c.1571+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1628+1G>T;ENST00000592060:exon11:c.1174+1G>T;ENST00000382948:exon16:c.1778+1G>T;ENST00000353909:exon15:c.1631+1G>T;ENST00000591416:exon16:c.1778+1G>T;ENST00000349085:exon14:c.1472+1G>T;ENST00000436910:exon14:c.1571+1G>T;ENST00000347968:exon15:c.1610+1G>T;ENST00000269468:exon16:c.1778+1G>T;ENST00000269471:exon14:c.1571+1G>T;ENST00000590208:exon16:c.1778+1G>T;ENST00000587605:exon14:c.1472+1G>T;ENST00000588937:exon13:c.1571+1G>T;ENST00000424334:exon17:c.1931+1G>T;ENST00000585595:exon17:c.1853+1G>T;ENST00000589541:exon7:c.683+1G>T;ENST00000398495:exon15:c.1661+1G>T;ENST00000457839:exon17:c.1853+1G>T;ENST00000398493:exon15:c.1610+1G>T;ENST00000591535:exon13:c.1571+1G>T;ENST00000398488:exon13:c.1472+1G>T)	.	.	0.999985532734767	0.936
18	47799046	C	G	18	50272676	y	y	splicing	MBD1(NM_001204139:exon16:c.1778+1G>C;NM_001204141:exon15:c.1628+1G>C;NM_002384:exon14:c.1472+1G>C;NM_015847:exon15:c.1631+1G>C;NM_015846:exon16:c.1778+1G>C;NM_015845:exon14:c.1571+1G>C;NM_001204136:exon16:c.1778+1G>C;NM_015844:exon15:c.1610+1G>C;NM_001204143:exon14:c.1472+1G>C;NM_001204140:exon16:c.1685+1G>C;NM_001204138:exon17:c.1850+1G>C;NM_001204137:exon17:c.1853+1G>C;NM_001204151:exon13:c.1571+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1628+1G>C;ENST00000592060:exon11:c.1174+1G>C;ENST00000382948:exon16:c.1778+1G>C;ENST00000353909:exon15:c.1631+1G>C;ENST00000591416:exon16:c.1778+1G>C;ENST00000349085:exon14:c.1472+1G>C;ENST00000436910:exon14:c.1571+1G>C;ENST00000347968:exon15:c.1610+1G>C;ENST00000269468:exon16:c.1778+1G>C;ENST00000269471:exon14:c.1571+1G>C;ENST00000590208:exon16:c.1778+1G>C;ENST00000587605:exon14:c.1472+1G>C;ENST00000588937:exon13:c.1571+1G>C;ENST00000424334:exon17:c.1931+1G>C;ENST00000585595:exon17:c.1853+1G>C;ENST00000589541:exon7:c.683+1G>C;ENST00000398495:exon15:c.1661+1G>C;ENST00000457839:exon17:c.1853+1G>C;ENST00000398493:exon15:c.1610+1G>C;ENST00000591535:exon13:c.1571+1G>C;ENST00000398488:exon13:c.1472+1G>C)	.	.	0.999985532734767	0.936
18	47799046	C	T	18	50272676	y	y	splicing	MBD1(NM_001204139:exon16:c.1778+1G>A;NM_001204141:exon15:c.1628+1G>A;NM_002384:exon14:c.1472+1G>A;NM_015847:exon15:c.1631+1G>A;NM_015846:exon16:c.1778+1G>A;NM_015845:exon14:c.1571+1G>A;NM_001204136:exon16:c.1778+1G>A;NM_015844:exon15:c.1610+1G>A;NM_001204143:exon14:c.1472+1G>A;NM_001204140:exon16:c.1685+1G>A;NM_001204138:exon17:c.1850+1G>A;NM_001204137:exon17:c.1853+1G>A;NM_001204151:exon13:c.1571+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1628+1G>A;ENST00000592060:exon11:c.1174+1G>A;ENST00000382948:exon16:c.1778+1G>A;ENST00000353909:exon15:c.1631+1G>A;ENST00000591416:exon16:c.1778+1G>A;ENST00000349085:exon14:c.1472+1G>A;ENST00000436910:exon14:c.1571+1G>A;ENST00000347968:exon15:c.1610+1G>A;ENST00000269468:exon16:c.1778+1G>A;ENST00000269471:exon14:c.1571+1G>A;ENST00000590208:exon16:c.1778+1G>A;ENST00000587605:exon14:c.1472+1G>A;ENST00000588937:exon13:c.1571+1G>A;ENST00000424334:exon17:c.1931+1G>A;ENST00000585595:exon17:c.1853+1G>A;ENST00000589541:exon7:c.683+1G>A;ENST00000398495:exon15:c.1661+1G>A;ENST00000457839:exon17:c.1853+1G>A;ENST00000398493:exon15:c.1610+1G>A;ENST00000591535:exon13:c.1571+1G>A;ENST00000398488:exon13:c.1472+1G>A)	.	.	0.999985532734767	0.936
18	47799047	C	A	18	50272677	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.G1472T:p.R491M;MBD1:NM_001204151:exon12:c.G1571T:p.R524M;MBD1:NM_001204137:exon16:c.G1853T:p.R618M;MBD1:NM_015845:exon13:c.G1571T:p.S524I;MBD1:NM_001204143:exon13:c.G1472T:p.R491M;MBD1:NM_001204138:exon16:c.G1850T:p.R617M;MBD1:NM_015846:exon15:c.G1778T:p.R593M;MBD1:NM_001204140:exon15:c.G1685T:p.R562M;MBD1:NM_001204139:exon15:c.G1778T:p.R593M;MBD1:NM_015844:exon14:c.G1610T:p.R537M;MBD1:NM_001204136:exon15:c.G1778T:p.S593I;MBD1:NM_015847:exon14:c.G1631T:p.R544M;MBD1:NM_001204141:exon14:c.G1628T:p.R543M;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.G1853T:p.R618M;ENSG00000141644:ENST00000424334:exon16:c.G1931T:p.R644M;ENSG00000141644:ENST00000591535:exon12:c.G1571T:p.R524M;ENSG00000141644:ENST00000398493:exon14:c.G1610T:p.R537M;ENSG00000141644:ENST00000398488:exon12:c.G1472T:p.R491M;ENSG00000141644:ENST00000353909:exon14:c.G1631T:p.R544M;ENSG00000141644:ENST00000589541:exon6:c.G683T:p.R228M;ENSG00000141644:ENST00000591416:exon15:c.G1778T:p.R593M;ENSG00000141644:ENST00000269471:exon13:c.G1571T:p.S524I;ENSG00000141644:ENST00000457839:exon16:c.G1853T:p.R618M;ENSG00000141644:ENST00000590208:exon15:c.G1778T:p.S593I;ENSG00000141644:ENST00000347968:exon14:c.G1610T:p.R537M;ENSG00000141644:ENST00000382948:exon15:c.G1778T:p.R593M;ENSG00000141644:ENST00000588937:exon12:c.G1571T:p.S524I;ENSG00000141644:ENST00000349085:exon13:c.G1472T:p.R491M;ENSG00000141644:ENST00000436910:exon13:c.G1571T:p.R524M;ENSG00000141644:ENST00000269468:exon15:c.G1778T:p.R593M;ENSG00000141644:ENST00000398495:exon14:c.G1661T:p.R554M;ENSG00000141644:ENST00000585672:exon14:c.G1628T:p.R543M;ENSG00000141644:ENST00000587605:exon13:c.G1472T:p.R491M;	0.999984243292603	0.99
18	47799047	C	G	18	50272677	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.G1472C:p.R491T;MBD1:NM_001204151:exon12:c.G1571C:p.R524T;MBD1:NM_001204137:exon16:c.G1853C:p.R618T;MBD1:NM_015845:exon13:c.G1571C:p.S524T;MBD1:NM_001204143:exon13:c.G1472C:p.R491T;MBD1:NM_001204138:exon16:c.G1850C:p.R617T;MBD1:NM_015846:exon15:c.G1778C:p.R593T;MBD1:NM_001204140:exon15:c.G1685C:p.R562T;MBD1:NM_001204139:exon15:c.G1778C:p.R593T;MBD1:NM_015844:exon14:c.G1610C:p.R537T;MBD1:NM_001204136:exon15:c.G1778C:p.S593T;MBD1:NM_015847:exon14:c.G1631C:p.R544T;MBD1:NM_001204141:exon14:c.G1628C:p.R543T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.G1853C:p.R618T;ENSG00000141644:ENST00000424334:exon16:c.G1931C:p.R644T;ENSG00000141644:ENST00000591535:exon12:c.G1571C:p.R524T;ENSG00000141644:ENST00000398493:exon14:c.G1610C:p.R537T;ENSG00000141644:ENST00000398488:exon12:c.G1472C:p.R491T;ENSG00000141644:ENST00000353909:exon14:c.G1631C:p.R544T;ENSG00000141644:ENST00000589541:exon6:c.G683C:p.R228T;ENSG00000141644:ENST00000591416:exon15:c.G1778C:p.R593T;ENSG00000141644:ENST00000269471:exon13:c.G1571C:p.S524T;ENSG00000141644:ENST00000457839:exon16:c.G1853C:p.R618T;ENSG00000141644:ENST00000590208:exon15:c.G1778C:p.S593T;ENSG00000141644:ENST00000347968:exon14:c.G1610C:p.R537T;ENSG00000141644:ENST00000382948:exon15:c.G1778C:p.R593T;ENSG00000141644:ENST00000588937:exon12:c.G1571C:p.S524T;ENSG00000141644:ENST00000349085:exon13:c.G1472C:p.R491T;ENSG00000141644:ENST00000436910:exon13:c.G1571C:p.R524T;ENSG00000141644:ENST00000269468:exon15:c.G1778C:p.R593T;ENSG00000141644:ENST00000398495:exon14:c.G1661C:p.R554T;ENSG00000141644:ENST00000585672:exon14:c.G1628C:p.R543T;ENSG00000141644:ENST00000587605:exon13:c.G1472C:p.R491T;	0.999997074380499	0.998
18	47799047	C	T	18	50272677	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.G1472A:p.R491K;MBD1:NM_001204151:exon12:c.G1571A:p.R524K;MBD1:NM_001204137:exon16:c.G1853A:p.R618K;MBD1:NM_015845:exon13:c.G1571A:p.S524N;MBD1:NM_001204143:exon13:c.G1472A:p.R491K;MBD1:NM_001204138:exon16:c.G1850A:p.R617K;MBD1:NM_015846:exon15:c.G1778A:p.R593K;MBD1:NM_001204140:exon15:c.G1685A:p.R562K;MBD1:NM_001204139:exon15:c.G1778A:p.R593K;MBD1:NM_015844:exon14:c.G1610A:p.R537K;MBD1:NM_001204136:exon15:c.G1778A:p.S593N;MBD1:NM_015847:exon14:c.G1631A:p.R544K;MBD1:NM_001204141:exon14:c.G1628A:p.R543K;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.G1853A:p.R618K;ENSG00000141644:ENST00000424334:exon16:c.G1931A:p.R644K;ENSG00000141644:ENST00000591535:exon12:c.G1571A:p.R524K;ENSG00000141644:ENST00000398493:exon14:c.G1610A:p.R537K;ENSG00000141644:ENST00000398488:exon12:c.G1472A:p.R491K;ENSG00000141644:ENST00000353909:exon14:c.G1631A:p.R544K;ENSG00000141644:ENST00000589541:exon6:c.G683A:p.R228K;ENSG00000141644:ENST00000591416:exon15:c.G1778A:p.R593K;ENSG00000141644:ENST00000269471:exon13:c.G1571A:p.S524N;ENSG00000141644:ENST00000457839:exon16:c.G1853A:p.R618K;ENSG00000141644:ENST00000590208:exon15:c.G1778A:p.S593N;ENSG00000141644:ENST00000347968:exon14:c.G1610A:p.R537K;ENSG00000141644:ENST00000382948:exon15:c.G1778A:p.R593K;ENSG00000141644:ENST00000588937:exon12:c.G1571A:p.S524N;ENSG00000141644:ENST00000349085:exon13:c.G1472A:p.R491K;ENSG00000141644:ENST00000436910:exon13:c.G1571A:p.R524K;ENSG00000141644:ENST00000269468:exon15:c.G1778A:p.R593K;ENSG00000141644:ENST00000398495:exon14:c.G1661A:p.R554K;ENSG00000141644:ENST00000585672:exon14:c.G1628A:p.R543K;ENSG00000141644:ENST00000587605:exon13:c.G1472A:p.R491K;	0.999990891811411	1.0
18	47799048	T	A	18	50272678	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.A1471T:p.R491W;MBD1:NM_001204151:exon12:c.A1570T:p.R524W;MBD1:NM_001204137:exon16:c.A1852T:p.R618W;MBD1:NM_015845:exon13:c.A1570T:p.S524C;MBD1:NM_001204143:exon13:c.A1471T:p.R491W;MBD1:NM_001204138:exon16:c.A1849T:p.R617W;MBD1:NM_015846:exon15:c.A1777T:p.R593W;MBD1:NM_001204140:exon15:c.A1684T:p.R562W;MBD1:NM_001204139:exon15:c.A1777T:p.R593W;MBD1:NM_015844:exon14:c.A1609T:p.R537W;MBD1:NM_001204136:exon15:c.A1777T:p.S593C;MBD1:NM_015847:exon14:c.A1630T:p.R544W;MBD1:NM_001204141:exon14:c.A1627T:p.R543W;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.A1852T:p.R618W;ENSG00000141644:ENST00000424334:exon16:c.A1930T:p.R644W;ENSG00000141644:ENST00000591535:exon12:c.A1570T:p.R524W;ENSG00000141644:ENST00000398493:exon14:c.A1609T:p.R537W;ENSG00000141644:ENST00000398488:exon12:c.A1471T:p.R491W;ENSG00000141644:ENST00000353909:exon14:c.A1630T:p.R544W;ENSG00000141644:ENST00000589541:exon6:c.A682T:p.R228W;ENSG00000141644:ENST00000591416:exon15:c.A1777T:p.R593W;ENSG00000141644:ENST00000269471:exon13:c.A1570T:p.S524C;ENSG00000141644:ENST00000457839:exon16:c.A1852T:p.R618W;ENSG00000141644:ENST00000590208:exon15:c.A1777T:p.S593C;ENSG00000141644:ENST00000347968:exon14:c.A1609T:p.R537W;ENSG00000141644:ENST00000382948:exon15:c.A1777T:p.R593W;ENSG00000141644:ENST00000588937:exon12:c.A1570T:p.S524C;ENSG00000141644:ENST00000349085:exon13:c.A1471T:p.R491W;ENSG00000141644:ENST00000436910:exon13:c.A1570T:p.R524W;ENSG00000141644:ENST00000269468:exon15:c.A1777T:p.R593W;ENSG00000141644:ENST00000398495:exon14:c.A1660T:p.R554W;ENSG00000141644:ENST00000585672:exon14:c.A1627T:p.R543W;ENSG00000141644:ENST00000587605:exon13:c.A1471T:p.R491W;	0.999937183429096	0.998
18	47799048	T	C	18	50272678	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.A1471G:p.R491G;MBD1:NM_001204151:exon12:c.A1570G:p.R524G;MBD1:NM_001204137:exon16:c.A1852G:p.R618G;MBD1:NM_015845:exon13:c.A1570G:p.S524G;MBD1:NM_001204143:exon13:c.A1471G:p.R491G;MBD1:NM_001204138:exon16:c.A1849G:p.R617G;MBD1:NM_015846:exon15:c.A1777G:p.R593G;MBD1:NM_001204140:exon15:c.A1684G:p.R562G;MBD1:NM_001204139:exon15:c.A1777G:p.R593G;MBD1:NM_015844:exon14:c.A1609G:p.R537G;MBD1:NM_001204136:exon15:c.A1777G:p.S593G;MBD1:NM_015847:exon14:c.A1630G:p.R544G;MBD1:NM_001204141:exon14:c.A1627G:p.R543G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.A1852G:p.R618G;ENSG00000141644:ENST00000424334:exon16:c.A1930G:p.R644G;ENSG00000141644:ENST00000591535:exon12:c.A1570G:p.R524G;ENSG00000141644:ENST00000398493:exon14:c.A1609G:p.R537G;ENSG00000141644:ENST00000398488:exon12:c.A1471G:p.R491G;ENSG00000141644:ENST00000353909:exon14:c.A1630G:p.R544G;ENSG00000141644:ENST00000589541:exon6:c.A682G:p.R228G;ENSG00000141644:ENST00000591416:exon15:c.A1777G:p.R593G;ENSG00000141644:ENST00000269471:exon13:c.A1570G:p.S524G;ENSG00000141644:ENST00000457839:exon16:c.A1852G:p.R618G;ENSG00000141644:ENST00000590208:exon15:c.A1777G:p.S593G;ENSG00000141644:ENST00000347968:exon14:c.A1609G:p.R537G;ENSG00000141644:ENST00000382948:exon15:c.A1777G:p.R593G;ENSG00000141644:ENST00000588937:exon12:c.A1570G:p.S524G;ENSG00000141644:ENST00000349085:exon13:c.A1471G:p.R491G;ENSG00000141644:ENST00000436910:exon13:c.A1570G:p.R524G;ENSG00000141644:ENST00000269468:exon15:c.A1777G:p.R593G;ENSG00000141644:ENST00000398495:exon14:c.A1660G:p.R554G;ENSG00000141644:ENST00000585672:exon14:c.A1627G:p.R543G;ENSG00000141644:ENST00000587605:exon13:c.A1471G:p.R491G;	0.999937183429096	0.992
18	47799048	T	G	18	50272678	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_015845:exon13:c.A1570C:p.S524R;MBD1:NM_001204136:exon15:c.A1777C:p.S593R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000269471:exon13:c.A1570C:p.S524R;ENSG00000141644:ENST00000590208:exon15:c.A1777C:p.S593R;ENSG00000141644:ENST00000588937:exon12:c.A1570C:p.S524R;	0.105286408314824	0.514
18	47799049	T	A	18	50272679	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon13:c.A1470T:p.P490P;MBD1:NM_001204151:exon12:c.A1569T:p.P523P;MBD1:NM_001204137:exon16:c.A1851T:p.P617P;MBD1:NM_015845:exon13:c.A1569T:p.P523P;MBD1:NM_001204143:exon13:c.A1470T:p.P490P;MBD1:NM_001204138:exon16:c.A1848T:p.P616P;MBD1:NM_015846:exon15:c.A1776T:p.P592P;MBD1:NM_001204140:exon15:c.A1683T:p.P561P;MBD1:NM_001204139:exon15:c.A1776T:p.P592P;MBD1:NM_015844:exon14:c.A1608T:p.P536P;MBD1:NM_001204136:exon15:c.A1776T:p.P592P;MBD1:NM_015847:exon14:c.A1629T:p.P543P;MBD1:NM_001204141:exon14:c.A1626T:p.P542P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.A1851T:p.P617P;ENSG00000141644:ENST00000424334:exon16:c.A1929T:p.P643P;ENSG00000141644:ENST00000591535:exon12:c.A1569T:p.P523P;ENSG00000141644:ENST00000398493:exon14:c.A1608T:p.P536P;ENSG00000141644:ENST00000398488:exon12:c.A1470T:p.P490P;ENSG00000141644:ENST00000353909:exon14:c.A1629T:p.P543P;ENSG00000141644:ENST00000589541:exon6:c.A681T:p.P227P;ENSG00000141644:ENST00000591416:exon15:c.A1776T:p.P592P;ENSG00000141644:ENST00000269471:exon13:c.A1569T:p.P523P;ENSG00000141644:ENST00000457839:exon16:c.A1851T:p.P617P;ENSG00000141644:ENST00000590208:exon15:c.A1776T:p.P592P;ENSG00000141644:ENST00000347968:exon14:c.A1608T:p.P536P;ENSG00000141644:ENST00000382948:exon15:c.A1776T:p.P592P;ENSG00000141644:ENST00000588937:exon12:c.A1569T:p.P523P;ENSG00000141644:ENST00000349085:exon13:c.A1470T:p.P490P;ENSG00000141644:ENST00000436910:exon13:c.A1569T:p.P523P;ENSG00000141644:ENST00000269468:exon15:c.A1776T:p.P592P;ENSG00000141644:ENST00000398495:exon14:c.A1659T:p.P553P;ENSG00000141644:ENST00000585672:exon14:c.A1626T:p.P542P;ENSG00000141644:ENST00000587605:exon13:c.A1470T:p.P490P;	0.980843199935215	0.592
18	47799049	T	C	18	50272679	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon13:c.A1470G:p.P490P;MBD1:NM_001204151:exon12:c.A1569G:p.P523P;MBD1:NM_001204137:exon16:c.A1851G:p.P617P;MBD1:NM_015845:exon13:c.A1569G:p.P523P;MBD1:NM_001204143:exon13:c.A1470G:p.P490P;MBD1:NM_001204138:exon16:c.A1848G:p.P616P;MBD1:NM_015846:exon15:c.A1776G:p.P592P;MBD1:NM_001204140:exon15:c.A1683G:p.P561P;MBD1:NM_001204139:exon15:c.A1776G:p.P592P;MBD1:NM_015844:exon14:c.A1608G:p.P536P;MBD1:NM_001204136:exon15:c.A1776G:p.P592P;MBD1:NM_015847:exon14:c.A1629G:p.P543P;MBD1:NM_001204141:exon14:c.A1626G:p.P542P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.A1851G:p.P617P;ENSG00000141644:ENST00000424334:exon16:c.A1929G:p.P643P;ENSG00000141644:ENST00000591535:exon12:c.A1569G:p.P523P;ENSG00000141644:ENST00000398493:exon14:c.A1608G:p.P536P;ENSG00000141644:ENST00000398488:exon12:c.A1470G:p.P490P;ENSG00000141644:ENST00000353909:exon14:c.A1629G:p.P543P;ENSG00000141644:ENST00000589541:exon6:c.A681G:p.P227P;ENSG00000141644:ENST00000591416:exon15:c.A1776G:p.P592P;ENSG00000141644:ENST00000269471:exon13:c.A1569G:p.P523P;ENSG00000141644:ENST00000457839:exon16:c.A1851G:p.P617P;ENSG00000141644:ENST00000590208:exon15:c.A1776G:p.P592P;ENSG00000141644:ENST00000347968:exon14:c.A1608G:p.P536P;ENSG00000141644:ENST00000382948:exon15:c.A1776G:p.P592P;ENSG00000141644:ENST00000588937:exon12:c.A1569G:p.P523P;ENSG00000141644:ENST00000349085:exon13:c.A1470G:p.P490P;ENSG00000141644:ENST00000436910:exon13:c.A1569G:p.P523P;ENSG00000141644:ENST00000269468:exon15:c.A1776G:p.P592P;ENSG00000141644:ENST00000398495:exon14:c.A1659G:p.P553P;ENSG00000141644:ENST00000585672:exon14:c.A1626G:p.P542P;ENSG00000141644:ENST00000587605:exon13:c.A1470G:p.P490P;	0.0437915728919192	0.188
18	47799049	T	G	18	50272679	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon13:c.A1470C:p.P490P;MBD1:NM_001204151:exon12:c.A1569C:p.P523P;MBD1:NM_001204137:exon16:c.A1851C:p.P617P;MBD1:NM_015845:exon13:c.A1569C:p.P523P;MBD1:NM_001204143:exon13:c.A1470C:p.P490P;MBD1:NM_001204138:exon16:c.A1848C:p.P616P;MBD1:NM_015846:exon15:c.A1776C:p.P592P;MBD1:NM_001204140:exon15:c.A1683C:p.P561P;MBD1:NM_001204139:exon15:c.A1776C:p.P592P;MBD1:NM_015844:exon14:c.A1608C:p.P536P;MBD1:NM_001204136:exon15:c.A1776C:p.P592P;MBD1:NM_015847:exon14:c.A1629C:p.P543P;MBD1:NM_001204141:exon14:c.A1626C:p.P542P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.A1851C:p.P617P;ENSG00000141644:ENST00000424334:exon16:c.A1929C:p.P643P;ENSG00000141644:ENST00000591535:exon12:c.A1569C:p.P523P;ENSG00000141644:ENST00000398493:exon14:c.A1608C:p.P536P;ENSG00000141644:ENST00000398488:exon12:c.A1470C:p.P490P;ENSG00000141644:ENST00000353909:exon14:c.A1629C:p.P543P;ENSG00000141644:ENST00000589541:exon6:c.A681C:p.P227P;ENSG00000141644:ENST00000591416:exon15:c.A1776C:p.P592P;ENSG00000141644:ENST00000269471:exon13:c.A1569C:p.P523P;ENSG00000141644:ENST00000457839:exon16:c.A1851C:p.P617P;ENSG00000141644:ENST00000590208:exon15:c.A1776C:p.P592P;ENSG00000141644:ENST00000347968:exon14:c.A1608C:p.P536P;ENSG00000141644:ENST00000382948:exon15:c.A1776C:p.P592P;ENSG00000141644:ENST00000588937:exon12:c.A1569C:p.P523P;ENSG00000141644:ENST00000349085:exon13:c.A1470C:p.P490P;ENSG00000141644:ENST00000436910:exon13:c.A1569C:p.P523P;ENSG00000141644:ENST00000269468:exon15:c.A1776C:p.P592P;ENSG00000141644:ENST00000398495:exon14:c.A1659C:p.P553P;ENSG00000141644:ENST00000585672:exon14:c.A1626C:p.P542P;ENSG00000141644:ENST00000587605:exon13:c.A1470C:p.P490P;	0.00228668628915261	0.018
18	47799107	A	C	18	50272737	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.T1412G:p.I471S;MBD1:NM_001204151:exon12:c.T1511G:p.I504S;MBD1:NM_001204137:exon16:c.T1793G:p.I598S;MBD1:NM_015845:exon13:c.T1511G:p.I504S;MBD1:NM_001204143:exon13:c.T1412G:p.I471S;MBD1:NM_001204138:exon16:c.T1790G:p.I597S;MBD1:NM_015846:exon15:c.T1718G:p.I573S;MBD1:NM_001204140:exon15:c.T1625G:p.I542S;MBD1:NM_001204139:exon15:c.T1718G:p.I573S;MBD1:NM_015844:exon14:c.T1550G:p.I517S;MBD1:NM_001204136:exon15:c.T1718G:p.I573S;MBD1:NM_015847:exon14:c.T1571G:p.I524S;MBD1:NM_001204141:exon14:c.T1568G:p.I523S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.T1793G:p.I598S;ENSG00000141644:ENST00000424334:exon16:c.T1871G:p.I624S;ENSG00000141644:ENST00000591535:exon12:c.T1511G:p.I504S;ENSG00000141644:ENST00000398493:exon14:c.T1550G:p.I517S;ENSG00000141644:ENST00000398488:exon12:c.T1412G:p.I471S;ENSG00000141644:ENST00000353909:exon14:c.T1571G:p.I524S;ENSG00000141644:ENST00000589541:exon6:c.T623G:p.I208S;ENSG00000141644:ENST00000591416:exon15:c.T1718G:p.I573S;ENSG00000141644:ENST00000269471:exon13:c.T1511G:p.I504S;ENSG00000141644:ENST00000457839:exon16:c.T1793G:p.I598S;ENSG00000141644:ENST00000590208:exon15:c.T1718G:p.I573S;ENSG00000141644:ENST00000347968:exon14:c.T1550G:p.I517S;ENSG00000141644:ENST00000382948:exon15:c.T1718G:p.I573S;ENSG00000141644:ENST00000588937:exon12:c.T1511G:p.I504S;ENSG00000141644:ENST00000349085:exon13:c.T1412G:p.I471S;ENSG00000141644:ENST00000436910:exon13:c.T1511G:p.I504S;ENSG00000141644:ENST00000269468:exon15:c.T1718G:p.I573S;ENSG00000141644:ENST00000398495:exon14:c.T1601G:p.I534S;ENSG00000141644:ENST00000585672:exon14:c.T1568G:p.I523S;ENSG00000141644:ENST00000587605:exon13:c.T1412G:p.I471S;	0.715464378867618	0.388
18	47799107	A	G	18	50272737	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.T1412C:p.I471T;MBD1:NM_001204151:exon12:c.T1511C:p.I504T;MBD1:NM_001204137:exon16:c.T1793C:p.I598T;MBD1:NM_015845:exon13:c.T1511C:p.I504T;MBD1:NM_001204143:exon13:c.T1412C:p.I471T;MBD1:NM_001204138:exon16:c.T1790C:p.I597T;MBD1:NM_015846:exon15:c.T1718C:p.I573T;MBD1:NM_001204140:exon15:c.T1625C:p.I542T;MBD1:NM_001204139:exon15:c.T1718C:p.I573T;MBD1:NM_015844:exon14:c.T1550C:p.I517T;MBD1:NM_001204136:exon15:c.T1718C:p.I573T;MBD1:NM_015847:exon14:c.T1571C:p.I524T;MBD1:NM_001204141:exon14:c.T1568C:p.I523T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.T1793C:p.I598T;ENSG00000141644:ENST00000424334:exon16:c.T1871C:p.I624T;ENSG00000141644:ENST00000591535:exon12:c.T1511C:p.I504T;ENSG00000141644:ENST00000398493:exon14:c.T1550C:p.I517T;ENSG00000141644:ENST00000398488:exon12:c.T1412C:p.I471T;ENSG00000141644:ENST00000353909:exon14:c.T1571C:p.I524T;ENSG00000141644:ENST00000589541:exon6:c.T623C:p.I208T;ENSG00000141644:ENST00000591416:exon15:c.T1718C:p.I573T;ENSG00000141644:ENST00000269471:exon13:c.T1511C:p.I504T;ENSG00000141644:ENST00000457839:exon16:c.T1793C:p.I598T;ENSG00000141644:ENST00000590208:exon15:c.T1718C:p.I573T;ENSG00000141644:ENST00000347968:exon14:c.T1550C:p.I517T;ENSG00000141644:ENST00000382948:exon15:c.T1718C:p.I573T;ENSG00000141644:ENST00000588937:exon12:c.T1511C:p.I504T;ENSG00000141644:ENST00000349085:exon13:c.T1412C:p.I471T;ENSG00000141644:ENST00000436910:exon13:c.T1511C:p.I504T;ENSG00000141644:ENST00000269468:exon15:c.T1718C:p.I573T;ENSG00000141644:ENST00000398495:exon14:c.T1601C:p.I534T;ENSG00000141644:ENST00000585672:exon14:c.T1568C:p.I523T;ENSG00000141644:ENST00000587605:exon13:c.T1412C:p.I471T;	0.310354838132957	0.326
18	47799107	A	T	18	50272737	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.T1412A:p.I471N;MBD1:NM_001204151:exon12:c.T1511A:p.I504N;MBD1:NM_001204137:exon16:c.T1793A:p.I598N;MBD1:NM_015845:exon13:c.T1511A:p.I504N;MBD1:NM_001204143:exon13:c.T1412A:p.I471N;MBD1:NM_001204138:exon16:c.T1790A:p.I597N;MBD1:NM_015846:exon15:c.T1718A:p.I573N;MBD1:NM_001204140:exon15:c.T1625A:p.I542N;MBD1:NM_001204139:exon15:c.T1718A:p.I573N;MBD1:NM_015844:exon14:c.T1550A:p.I517N;MBD1:NM_001204136:exon15:c.T1718A:p.I573N;MBD1:NM_015847:exon14:c.T1571A:p.I524N;MBD1:NM_001204141:exon14:c.T1568A:p.I523N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.T1793A:p.I598N;ENSG00000141644:ENST00000424334:exon16:c.T1871A:p.I624N;ENSG00000141644:ENST00000591535:exon12:c.T1511A:p.I504N;ENSG00000141644:ENST00000398493:exon14:c.T1550A:p.I517N;ENSG00000141644:ENST00000398488:exon12:c.T1412A:p.I471N;ENSG00000141644:ENST00000353909:exon14:c.T1571A:p.I524N;ENSG00000141644:ENST00000589541:exon6:c.T623A:p.I208N;ENSG00000141644:ENST00000591416:exon15:c.T1718A:p.I573N;ENSG00000141644:ENST00000269471:exon13:c.T1511A:p.I504N;ENSG00000141644:ENST00000457839:exon16:c.T1793A:p.I598N;ENSG00000141644:ENST00000590208:exon15:c.T1718A:p.I573N;ENSG00000141644:ENST00000347968:exon14:c.T1550A:p.I517N;ENSG00000141644:ENST00000382948:exon15:c.T1718A:p.I573N;ENSG00000141644:ENST00000588937:exon12:c.T1511A:p.I504N;ENSG00000141644:ENST00000349085:exon13:c.T1412A:p.I471N;ENSG00000141644:ENST00000436910:exon13:c.T1511A:p.I504N;ENSG00000141644:ENST00000269468:exon15:c.T1718A:p.I573N;ENSG00000141644:ENST00000398495:exon14:c.T1601A:p.I534N;ENSG00000141644:ENST00000585672:exon14:c.T1568A:p.I523N;ENSG00000141644:ENST00000587605:exon13:c.T1412A:p.I471N;	0.601668117479118	0.38
18	47799108	T	A	18	50272738	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.A1411T:p.I471F;MBD1:NM_001204151:exon12:c.A1510T:p.I504F;MBD1:NM_001204137:exon16:c.A1792T:p.I598F;MBD1:NM_015845:exon13:c.A1510T:p.I504F;MBD1:NM_001204143:exon13:c.A1411T:p.I471F;MBD1:NM_001204138:exon16:c.A1789T:p.I597F;MBD1:NM_015846:exon15:c.A1717T:p.I573F;MBD1:NM_001204140:exon15:c.A1624T:p.I542F;MBD1:NM_001204139:exon15:c.A1717T:p.I573F;MBD1:NM_015844:exon14:c.A1549T:p.I517F;MBD1:NM_001204136:exon15:c.A1717T:p.I573F;MBD1:NM_015847:exon14:c.A1570T:p.I524F;MBD1:NM_001204141:exon14:c.A1567T:p.I523F;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.A1792T:p.I598F;ENSG00000141644:ENST00000424334:exon16:c.A1870T:p.I624F;ENSG00000141644:ENST00000591535:exon12:c.A1510T:p.I504F;ENSG00000141644:ENST00000398493:exon14:c.A1549T:p.I517F;ENSG00000141644:ENST00000398488:exon12:c.A1411T:p.I471F;ENSG00000141644:ENST00000353909:exon14:c.A1570T:p.I524F;ENSG00000141644:ENST00000589541:exon6:c.A622T:p.I208F;ENSG00000141644:ENST00000591416:exon15:c.A1717T:p.I573F;ENSG00000141644:ENST00000269471:exon13:c.A1510T:p.I504F;ENSG00000141644:ENST00000457839:exon16:c.A1792T:p.I598F;ENSG00000141644:ENST00000590208:exon15:c.A1717T:p.I573F;ENSG00000141644:ENST00000347968:exon14:c.A1549T:p.I517F;ENSG00000141644:ENST00000382948:exon15:c.A1717T:p.I573F;ENSG00000141644:ENST00000588937:exon12:c.A1510T:p.I504F;ENSG00000141644:ENST00000349085:exon13:c.A1411T:p.I471F;ENSG00000141644:ENST00000436910:exon13:c.A1510T:p.I504F;ENSG00000141644:ENST00000269468:exon15:c.A1717T:p.I573F;ENSG00000141644:ENST00000398495:exon14:c.A1600T:p.I534F;ENSG00000141644:ENST00000585672:exon14:c.A1567T:p.I523F;ENSG00000141644:ENST00000587605:exon13:c.A1411T:p.I471F;	0.784439881478181	0.564
18	47799108	T	C	18	50272738	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.A1411G:p.I471V;MBD1:NM_001204151:exon12:c.A1510G:p.I504V;MBD1:NM_001204137:exon16:c.A1792G:p.I598V;MBD1:NM_015845:exon13:c.A1510G:p.I504V;MBD1:NM_001204143:exon13:c.A1411G:p.I471V;MBD1:NM_001204138:exon16:c.A1789G:p.I597V;MBD1:NM_015846:exon15:c.A1717G:p.I573V;MBD1:NM_001204140:exon15:c.A1624G:p.I542V;MBD1:NM_001204139:exon15:c.A1717G:p.I573V;MBD1:NM_015844:exon14:c.A1549G:p.I517V;MBD1:NM_001204136:exon15:c.A1717G:p.I573V;MBD1:NM_015847:exon14:c.A1570G:p.I524V;MBD1:NM_001204141:exon14:c.A1567G:p.I523V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.A1792G:p.I598V;ENSG00000141644:ENST00000424334:exon16:c.A1870G:p.I624V;ENSG00000141644:ENST00000591535:exon12:c.A1510G:p.I504V;ENSG00000141644:ENST00000398493:exon14:c.A1549G:p.I517V;ENSG00000141644:ENST00000398488:exon12:c.A1411G:p.I471V;ENSG00000141644:ENST00000353909:exon14:c.A1570G:p.I524V;ENSG00000141644:ENST00000589541:exon6:c.A622G:p.I208V;ENSG00000141644:ENST00000591416:exon15:c.A1717G:p.I573V;ENSG00000141644:ENST00000269471:exon13:c.A1510G:p.I504V;ENSG00000141644:ENST00000457839:exon16:c.A1792G:p.I598V;ENSG00000141644:ENST00000590208:exon15:c.A1717G:p.I573V;ENSG00000141644:ENST00000347968:exon14:c.A1549G:p.I517V;ENSG00000141644:ENST00000382948:exon15:c.A1717G:p.I573V;ENSG00000141644:ENST00000588937:exon12:c.A1510G:p.I504V;ENSG00000141644:ENST00000349085:exon13:c.A1411G:p.I471V;ENSG00000141644:ENST00000436910:exon13:c.A1510G:p.I504V;ENSG00000141644:ENST00000269468:exon15:c.A1717G:p.I573V;ENSG00000141644:ENST00000398495:exon14:c.A1600G:p.I534V;ENSG00000141644:ENST00000585672:exon14:c.A1567G:p.I523V;ENSG00000141644:ENST00000587605:exon13:c.A1411G:p.I471V;	0.00308422764180277	0.03
18	47799108	T	G	18	50272738	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon13:c.A1411C:p.I471L;MBD1:NM_001204151:exon12:c.A1510C:p.I504L;MBD1:NM_001204137:exon16:c.A1792C:p.I598L;MBD1:NM_015845:exon13:c.A1510C:p.I504L;MBD1:NM_001204143:exon13:c.A1411C:p.I471L;MBD1:NM_001204138:exon16:c.A1789C:p.I597L;MBD1:NM_015846:exon15:c.A1717C:p.I573L;MBD1:NM_001204140:exon15:c.A1624C:p.I542L;MBD1:NM_001204139:exon15:c.A1717C:p.I573L;MBD1:NM_015844:exon14:c.A1549C:p.I517L;MBD1:NM_001204136:exon15:c.A1717C:p.I573L;MBD1:NM_015847:exon14:c.A1570C:p.I524L;MBD1:NM_001204141:exon14:c.A1567C:p.I523L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon16:c.A1792C:p.I598L;ENSG00000141644:ENST00000424334:exon16:c.A1870C:p.I624L;ENSG00000141644:ENST00000591535:exon12:c.A1510C:p.I504L;ENSG00000141644:ENST00000398493:exon14:c.A1549C:p.I517L;ENSG00000141644:ENST00000398488:exon12:c.A1411C:p.I471L;ENSG00000141644:ENST00000353909:exon14:c.A1570C:p.I524L;ENSG00000141644:ENST00000589541:exon6:c.A622C:p.I208L;ENSG00000141644:ENST00000591416:exon15:c.A1717C:p.I573L;ENSG00000141644:ENST00000269471:exon13:c.A1510C:p.I504L;ENSG00000141644:ENST00000457839:exon16:c.A1792C:p.I598L;ENSG00000141644:ENST00000590208:exon15:c.A1717C:p.I573L;ENSG00000141644:ENST00000347968:exon14:c.A1549C:p.I517L;ENSG00000141644:ENST00000382948:exon15:c.A1717C:p.I573L;ENSG00000141644:ENST00000588937:exon12:c.A1510C:p.I504L;ENSG00000141644:ENST00000349085:exon13:c.A1411C:p.I471L;ENSG00000141644:ENST00000436910:exon13:c.A1510C:p.I504L;ENSG00000141644:ENST00000269468:exon15:c.A1717C:p.I573L;ENSG00000141644:ENST00000398495:exon14:c.A1600C:p.I534L;ENSG00000141644:ENST00000585672:exon14:c.A1567C:p.I523L;ENSG00000141644:ENST00000587605:exon13:c.A1411C:p.I471L;	0.827155540662298	0.586
18	47799109	C	A	18	50272739	y	y	splicing	MBD1(NM_001204139:exon16:c.1717-1G>T;NM_001204141:exon15:c.1567-1G>T;NM_002384:exon14:c.1411-1G>T;NM_015847:exon15:c.1570-1G>T;NM_015846:exon16:c.1717-1G>T;NM_015845:exon14:c.1510-1G>T;NM_001204136:exon16:c.1717-1G>T;NM_015844:exon15:c.1549-1G>T;NM_001204143:exon14:c.1411-1G>T;NM_001204140:exon16:c.1624-1G>T;NM_001204138:exon17:c.1789-1G>T;NM_001204137:exon17:c.1792-1G>T;NM_001204151:exon13:c.1510-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1567-1G>T;ENST00000592060:exon11:c.1113-1G>T;ENST00000382948:exon16:c.1717-1G>T;ENST00000353909:exon15:c.1570-1G>T;ENST00000591416:exon16:c.1717-1G>T;ENST00000349085:exon14:c.1411-1G>T;ENST00000436910:exon14:c.1510-1G>T;ENST00000347968:exon15:c.1549-1G>T;ENST00000269468:exon16:c.1717-1G>T;ENST00000269471:exon14:c.1510-1G>T;ENST00000590208:exon16:c.1717-1G>T;ENST00000587605:exon14:c.1411-1G>T;ENST00000588937:exon13:c.1510-1G>T;ENST00000424334:exon17:c.1870-1G>T;ENST00000585595:exon17:c.1792-1G>T;ENST00000589541:exon7:c.622-1G>T;ENST00000398495:exon15:c.1600-1G>T;ENST00000457839:exon17:c.1792-1G>T;ENST00000398493:exon15:c.1549-1G>T;ENST00000591535:exon13:c.1510-1G>T;ENST00000398488:exon13:c.1411-1G>T)	.	.	0.999990361384395	0.936
18	47799109	C	G	18	50272739	y	y	splicing	MBD1(NM_001204139:exon16:c.1717-1G>C;NM_001204141:exon15:c.1567-1G>C;NM_002384:exon14:c.1411-1G>C;NM_015847:exon15:c.1570-1G>C;NM_015846:exon16:c.1717-1G>C;NM_015845:exon14:c.1510-1G>C;NM_001204136:exon16:c.1717-1G>C;NM_015844:exon15:c.1549-1G>C;NM_001204143:exon14:c.1411-1G>C;NM_001204140:exon16:c.1624-1G>C;NM_001204138:exon17:c.1789-1G>C;NM_001204137:exon17:c.1792-1G>C;NM_001204151:exon13:c.1510-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1567-1G>C;ENST00000592060:exon11:c.1113-1G>C;ENST00000382948:exon16:c.1717-1G>C;ENST00000353909:exon15:c.1570-1G>C;ENST00000591416:exon16:c.1717-1G>C;ENST00000349085:exon14:c.1411-1G>C;ENST00000436910:exon14:c.1510-1G>C;ENST00000347968:exon15:c.1549-1G>C;ENST00000269468:exon16:c.1717-1G>C;ENST00000269471:exon14:c.1510-1G>C;ENST00000590208:exon16:c.1717-1G>C;ENST00000587605:exon14:c.1411-1G>C;ENST00000588937:exon13:c.1510-1G>C;ENST00000424334:exon17:c.1870-1G>C;ENST00000585595:exon17:c.1792-1G>C;ENST00000589541:exon7:c.622-1G>C;ENST00000398495:exon15:c.1600-1G>C;ENST00000457839:exon17:c.1792-1G>C;ENST00000398493:exon15:c.1549-1G>C;ENST00000591535:exon13:c.1510-1G>C;ENST00000398488:exon13:c.1411-1G>C)	.	.	0.999990361384395	0.936
18	47799109	C	T	18	50272739	y	y	splicing	MBD1(NM_001204139:exon16:c.1717-1G>A;NM_001204141:exon15:c.1567-1G>A;NM_002384:exon14:c.1411-1G>A;NM_015847:exon15:c.1570-1G>A;NM_015846:exon16:c.1717-1G>A;NM_015845:exon14:c.1510-1G>A;NM_001204136:exon16:c.1717-1G>A;NM_015844:exon15:c.1549-1G>A;NM_001204143:exon14:c.1411-1G>A;NM_001204140:exon16:c.1624-1G>A;NM_001204138:exon17:c.1789-1G>A;NM_001204137:exon17:c.1792-1G>A;NM_001204151:exon13:c.1510-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1567-1G>A;ENST00000592060:exon11:c.1113-1G>A;ENST00000382948:exon16:c.1717-1G>A;ENST00000353909:exon15:c.1570-1G>A;ENST00000591416:exon16:c.1717-1G>A;ENST00000349085:exon14:c.1411-1G>A;ENST00000436910:exon14:c.1510-1G>A;ENST00000347968:exon15:c.1549-1G>A;ENST00000269468:exon16:c.1717-1G>A;ENST00000269471:exon14:c.1510-1G>A;ENST00000590208:exon16:c.1717-1G>A;ENST00000587605:exon14:c.1411-1G>A;ENST00000588937:exon13:c.1510-1G>A;ENST00000424334:exon17:c.1870-1G>A;ENST00000585595:exon17:c.1792-1G>A;ENST00000589541:exon7:c.622-1G>A;ENST00000398495:exon15:c.1600-1G>A;ENST00000457839:exon17:c.1792-1G>A;ENST00000398493:exon15:c.1549-1G>A;ENST00000591535:exon13:c.1510-1G>A;ENST00000398488:exon13:c.1411-1G>A)	.	.	0.999990361384395	0.936
18	47799110	T	A	18	50272740	y	y	splicing	MBD1(NM_001204139:exon16:c.1717-2A>T;NM_001204141:exon15:c.1567-2A>T;NM_002384:exon14:c.1411-2A>T;NM_015847:exon15:c.1570-2A>T;NM_015846:exon16:c.1717-2A>T;NM_015845:exon14:c.1510-2A>T;NM_001204136:exon16:c.1717-2A>T;NM_015844:exon15:c.1549-2A>T;NM_001204143:exon14:c.1411-2A>T;NM_001204140:exon16:c.1624-2A>T;NM_001204138:exon17:c.1789-2A>T;NM_001204137:exon17:c.1792-2A>T;NM_001204151:exon13:c.1510-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1567-2A>T;ENST00000592060:exon11:c.1113-2A>T;ENST00000382948:exon16:c.1717-2A>T;ENST00000353909:exon15:c.1570-2A>T;ENST00000591416:exon16:c.1717-2A>T;ENST00000349085:exon14:c.1411-2A>T;ENST00000436910:exon14:c.1510-2A>T;ENST00000347968:exon15:c.1549-2A>T;ENST00000269468:exon16:c.1717-2A>T;ENST00000269471:exon14:c.1510-2A>T;ENST00000590208:exon16:c.1717-2A>T;ENST00000587605:exon14:c.1411-2A>T;ENST00000588937:exon13:c.1510-2A>T;ENST00000424334:exon17:c.1870-2A>T;ENST00000585595:exon17:c.1792-2A>T;ENST00000589541:exon7:c.622-2A>T;ENST00000398495:exon15:c.1600-2A>T;ENST00000457839:exon17:c.1792-2A>T;ENST00000398493:exon15:c.1549-2A>T;ENST00000591535:exon13:c.1510-2A>T;ENST00000398488:exon13:c.1411-2A>T)	.	.	0.999988247793601	0.928
18	47799110	T	C	18	50272740	y	y	splicing	MBD1(NM_001204139:exon16:c.1717-2A>G;NM_001204141:exon15:c.1567-2A>G;NM_002384:exon14:c.1411-2A>G;NM_015847:exon15:c.1570-2A>G;NM_015846:exon16:c.1717-2A>G;NM_015845:exon14:c.1510-2A>G;NM_001204136:exon16:c.1717-2A>G;NM_015844:exon15:c.1549-2A>G;NM_001204143:exon14:c.1411-2A>G;NM_001204140:exon16:c.1624-2A>G;NM_001204138:exon17:c.1789-2A>G;NM_001204137:exon17:c.1792-2A>G;NM_001204151:exon13:c.1510-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1567-2A>G;ENST00000592060:exon11:c.1113-2A>G;ENST00000382948:exon16:c.1717-2A>G;ENST00000353909:exon15:c.1570-2A>G;ENST00000591416:exon16:c.1717-2A>G;ENST00000349085:exon14:c.1411-2A>G;ENST00000436910:exon14:c.1510-2A>G;ENST00000347968:exon15:c.1549-2A>G;ENST00000269468:exon16:c.1717-2A>G;ENST00000269471:exon14:c.1510-2A>G;ENST00000590208:exon16:c.1717-2A>G;ENST00000587605:exon14:c.1411-2A>G;ENST00000588937:exon13:c.1510-2A>G;ENST00000424334:exon17:c.1870-2A>G;ENST00000585595:exon17:c.1792-2A>G;ENST00000589541:exon7:c.622-2A>G;ENST00000398495:exon15:c.1600-2A>G;ENST00000457839:exon17:c.1792-2A>G;ENST00000398493:exon15:c.1549-2A>G;ENST00000591535:exon13:c.1510-2A>G;ENST00000398488:exon13:c.1411-2A>G)	.	.	0.999988247793601	0.928
18	47799110	T	G	18	50272740	y	y	splicing	MBD1(NM_001204139:exon16:c.1717-2A>C;NM_001204141:exon15:c.1567-2A>C;NM_002384:exon14:c.1411-2A>C;NM_015847:exon15:c.1570-2A>C;NM_015846:exon16:c.1717-2A>C;NM_015845:exon14:c.1510-2A>C;NM_001204136:exon16:c.1717-2A>C;NM_015844:exon15:c.1549-2A>C;NM_001204143:exon14:c.1411-2A>C;NM_001204140:exon16:c.1624-2A>C;NM_001204138:exon17:c.1789-2A>C;NM_001204137:exon17:c.1792-2A>C;NM_001204151:exon13:c.1510-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon15:c.1567-2A>C;ENST00000592060:exon11:c.1113-2A>C;ENST00000382948:exon16:c.1717-2A>C;ENST00000353909:exon15:c.1570-2A>C;ENST00000591416:exon16:c.1717-2A>C;ENST00000349085:exon14:c.1411-2A>C;ENST00000436910:exon14:c.1510-2A>C;ENST00000347968:exon15:c.1549-2A>C;ENST00000269468:exon16:c.1717-2A>C;ENST00000269471:exon14:c.1510-2A>C;ENST00000590208:exon16:c.1717-2A>C;ENST00000587605:exon14:c.1411-2A>C;ENST00000588937:exon13:c.1510-2A>C;ENST00000424334:exon17:c.1870-2A>C;ENST00000585595:exon17:c.1792-2A>C;ENST00000589541:exon7:c.622-2A>C;ENST00000398495:exon15:c.1600-2A>C;ENST00000457839:exon17:c.1792-2A>C;ENST00000398493:exon15:c.1549-2A>C;ENST00000591535:exon13:c.1510-2A>C;ENST00000398488:exon13:c.1411-2A>C)	.	.	0.999988247793601	0.928
18	47799111	A	C	18	50272741	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.997272983780831	0.756
18	47799111	A	G	18	50272741	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.68567777349612E-4	0.028
18	47799111	A	T	18	50272741	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.315010859245244	0.458
18	47799112	G	A	18	50272742	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.52330152779728E-4	0.018
18	47799112	G	C	18	50272742	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.9230932266817E-4	0.024
18	47799112	G	T	18	50272742	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.37991571377109E-4	0.01
18	47799113	A	C	18	50272743	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.773598583474828	0.548
18	47799113	A	G	18	50272743	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.87723216315541E-4	0.118
18	47799113	A	T	18	50272743	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.910054364216209	0.602
18	47799114	G	A	18	50272744	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.37389956288336E-5	0.0
18	47799114	G	C	18	50272744	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00197269226779109	0.21
18	47799114	G	T	18	50272744	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00185115444710304	0.164
18	47799115	A	C	18	50272745	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.789699290186194	0.454
18	47799115	A	G	18	50272745	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00104787923398022	0.1
18	47799115	A	T	18	50272745	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.568621854997616	0.482
18	47799116	A	C	18	50272746	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.063442040302547	0.286
18	47799116	A	G	18	50272746	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.4059337966448E-4	0.006
18	47799116	A	T	18	50272746	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.130530331177142	0.258
18	47799117	G	A	18	50272747	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.31121653723554E-4	0.012
18	47799117	G	C	18	50272747	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0173557845062576	0.112
18	47799117	G	T	18	50272747	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0162677126903703	0.076
18	47799118	A	C	18	50272748	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999329204592469	0.902
18	47799118	A	G	18	50272748	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.154439859534495	0.4
18	47799118	A	T	18	50272748	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999471229652869	0.916
18	47799119	A	C	18	50272749	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99993951767181	0.956
18	47799119	A	G	18	50272749	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.9921657321069	0.598
18	47799119	A	T	18	50272749	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999678346067879	0.932
18	47799120	T	A	18	50272750	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.20170354720459	0.436
18	47799120	T	C	18	50272750	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.998706686495552	0.914
18	47799120	T	G	18	50272750	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.318662141292994	0.508
18	47799186	G	A	18	50272816	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00102321127078282	0.164
18	47799186	G	C	18	50272816	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.6526509350722E-4	0.032
18	47799186	G	T	18	50272816	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00120893268826426	0.046
18	47799187	C	A	18	50272817	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0653145904918557	0.212
18	47799187	C	G	18	50272817	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0168327954164121	0.088
18	47799187	C	T	18	50272817	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0121357418166009	0.102
18	47799188	A	C	18	50272818	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999316035973008	0.808
18	47799188	A	G	18	50272818	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.996837358521755	0.844
18	47799188	A	T	18	50272818	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999221980999801	0.792
18	47799189	C	A	18	50272819	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999990582540912	0.966
18	47799189	C	G	18	50272819	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999975286226597	0.98
18	47799189	C	T	18	50272819	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99998037388569	1.0
18	47799190	T	A	18	50272820	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999539949098826	0.91
18	47799190	T	C	18	50272820	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999524149513982	0.888
18	47799190	T	G	18	50272820	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999871784580361	0.884
18	47799191	G	A	18	50272821	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.78295421772569E-4	0.066
18	47799191	G	C	18	50272821	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.8261618856955E-4	0.078
18	47799191	G	T	18	50272821	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.8261618856955E-4	0.106
18	47799192	A	C	18	50272822	y	y	splicing	MBD1(NM_001204139:exon15:c.1716+2T>G;NM_001204141:exon14:c.1566+2T>G;NM_002384:exon13:c.1410+2T>G;NM_015847:exon14:c.1569+2T>G;NM_015846:exon15:c.1716+2T>G;NM_015845:exon13:c.1509+2T>G;NM_001204136:exon15:c.1716+2T>G;NM_015844:exon14:c.1548+2T>G;NM_001204143:exon13:c.1410+2T>G;NM_001204142:exon14:c.1578+2T>G;NM_001204140:exon15:c.1623+2T>G;NM_001204138:exon16:c.1788+2T>G;NM_001204137:exon16:c.1791+2T>G;NM_001204151:exon12:c.1509+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1566+2T>G;ENST00000592060:exon10:c.1112+2T>G;ENST00000382948:exon15:c.1716+2T>G;ENST00000353909:exon14:c.1569+2T>G;ENST00000591416:exon15:c.1716+2T>G;ENST00000349085:exon13:c.1410+2T>G;ENST00000436910:exon13:c.1509+2T>G;ENST00000347968:exon14:c.1548+2T>G;ENST00000269468:exon15:c.1716+2T>G;ENST00000269471:exon13:c.1509+2T>G;ENST00000339998:exon14:c.1578+2T>G;ENST00000590208:exon15:c.1716+2T>G;ENST00000587605:exon13:c.1410+2T>G;ENST00000588937:exon12:c.1509+2T>G;ENST00000424334:exon16:c.1869+2T>G;ENST00000585595:exon16:c.1791+2T>G;ENST00000589541:exon6:c.621+2T>G;ENST00000457839:exon16:c.1791+2T>G;ENST00000398493:exon14:c.1548+2T>G;ENST00000591535:exon12:c.1509+2T>G;ENST00000398488:exon12:c.1410+2T>G)	.	.	0.999990764389106	0.94
18	47799192	A	G	18	50272822	y	y	splicing	MBD1(NM_001204139:exon15:c.1716+2T>C;NM_001204141:exon14:c.1566+2T>C;NM_002384:exon13:c.1410+2T>C;NM_015847:exon14:c.1569+2T>C;NM_015846:exon15:c.1716+2T>C;NM_015845:exon13:c.1509+2T>C;NM_001204136:exon15:c.1716+2T>C;NM_015844:exon14:c.1548+2T>C;NM_001204143:exon13:c.1410+2T>C;NM_001204142:exon14:c.1578+2T>C;NM_001204140:exon15:c.1623+2T>C;NM_001204138:exon16:c.1788+2T>C;NM_001204137:exon16:c.1791+2T>C;NM_001204151:exon12:c.1509+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1566+2T>C;ENST00000592060:exon10:c.1112+2T>C;ENST00000382948:exon15:c.1716+2T>C;ENST00000353909:exon14:c.1569+2T>C;ENST00000591416:exon15:c.1716+2T>C;ENST00000349085:exon13:c.1410+2T>C;ENST00000436910:exon13:c.1509+2T>C;ENST00000347968:exon14:c.1548+2T>C;ENST00000269468:exon15:c.1716+2T>C;ENST00000269471:exon13:c.1509+2T>C;ENST00000339998:exon14:c.1578+2T>C;ENST00000590208:exon15:c.1716+2T>C;ENST00000587605:exon13:c.1410+2T>C;ENST00000588937:exon12:c.1509+2T>C;ENST00000424334:exon16:c.1869+2T>C;ENST00000585595:exon16:c.1791+2T>C;ENST00000589541:exon6:c.621+2T>C;ENST00000457839:exon16:c.1791+2T>C;ENST00000398493:exon14:c.1548+2T>C;ENST00000591535:exon12:c.1509+2T>C;ENST00000398488:exon12:c.1410+2T>C)	.	.	0.999933373721707	0.93
18	47799192	A	T	18	50272822	y	y	splicing	MBD1(NM_001204139:exon15:c.1716+2T>A;NM_001204141:exon14:c.1566+2T>A;NM_002384:exon13:c.1410+2T>A;NM_015847:exon14:c.1569+2T>A;NM_015846:exon15:c.1716+2T>A;NM_015845:exon13:c.1509+2T>A;NM_001204136:exon15:c.1716+2T>A;NM_015844:exon14:c.1548+2T>A;NM_001204143:exon13:c.1410+2T>A;NM_001204142:exon14:c.1578+2T>A;NM_001204140:exon15:c.1623+2T>A;NM_001204138:exon16:c.1788+2T>A;NM_001204137:exon16:c.1791+2T>A;NM_001204151:exon12:c.1509+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1566+2T>A;ENST00000592060:exon10:c.1112+2T>A;ENST00000382948:exon15:c.1716+2T>A;ENST00000353909:exon14:c.1569+2T>A;ENST00000591416:exon15:c.1716+2T>A;ENST00000349085:exon13:c.1410+2T>A;ENST00000436910:exon13:c.1509+2T>A;ENST00000347968:exon14:c.1548+2T>A;ENST00000269468:exon15:c.1716+2T>A;ENST00000269471:exon13:c.1509+2T>A;ENST00000339998:exon14:c.1578+2T>A;ENST00000590208:exon15:c.1716+2T>A;ENST00000587605:exon13:c.1410+2T>A;ENST00000588937:exon12:c.1509+2T>A;ENST00000424334:exon16:c.1869+2T>A;ENST00000585595:exon16:c.1791+2T>A;ENST00000589541:exon6:c.621+2T>A;ENST00000457839:exon16:c.1791+2T>A;ENST00000398493:exon14:c.1548+2T>A;ENST00000591535:exon12:c.1509+2T>A;ENST00000398488:exon12:c.1410+2T>A)	.	.	0.999990764389106	0.942
18	47799193	C	A	18	50272823	y	y	splicing	MBD1(NM_001204139:exon15:c.1716+1G>T;NM_001204141:exon14:c.1566+1G>T;NM_002384:exon13:c.1410+1G>T;NM_015847:exon14:c.1569+1G>T;NM_015846:exon15:c.1716+1G>T;NM_015845:exon13:c.1509+1G>T;NM_001204136:exon15:c.1716+1G>T;NM_015844:exon14:c.1548+1G>T;NM_001204143:exon13:c.1410+1G>T;NM_001204142:exon14:c.1578+1G>T;NM_001204140:exon15:c.1623+1G>T;NM_001204138:exon16:c.1788+1G>T;NM_001204137:exon16:c.1791+1G>T;NM_001204151:exon12:c.1509+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1566+1G>T;ENST00000592060:exon10:c.1112+1G>T;ENST00000382948:exon15:c.1716+1G>T;ENST00000353909:exon14:c.1569+1G>T;ENST00000591416:exon15:c.1716+1G>T;ENST00000349085:exon13:c.1410+1G>T;ENST00000436910:exon13:c.1509+1G>T;ENST00000347968:exon14:c.1548+1G>T;ENST00000269468:exon15:c.1716+1G>T;ENST00000269471:exon13:c.1509+1G>T;ENST00000339998:exon14:c.1578+1G>T;ENST00000590208:exon15:c.1716+1G>T;ENST00000587605:exon13:c.1410+1G>T;ENST00000588937:exon12:c.1509+1G>T;ENST00000424334:exon16:c.1869+1G>T;ENST00000585595:exon16:c.1791+1G>T;ENST00000589541:exon6:c.621+1G>T;ENST00000457839:exon16:c.1791+1G>T;ENST00000398493:exon14:c.1548+1G>T;ENST00000591535:exon12:c.1509+1G>T;ENST00000398488:exon12:c.1410+1G>T)	.	.	0.999992425382947	0.94
18	47799193	C	G	18	50272823	y	y	splicing	MBD1(NM_001204139:exon15:c.1716+1G>C;NM_001204141:exon14:c.1566+1G>C;NM_002384:exon13:c.1410+1G>C;NM_015847:exon14:c.1569+1G>C;NM_015846:exon15:c.1716+1G>C;NM_015845:exon13:c.1509+1G>C;NM_001204136:exon15:c.1716+1G>C;NM_015844:exon14:c.1548+1G>C;NM_001204143:exon13:c.1410+1G>C;NM_001204142:exon14:c.1578+1G>C;NM_001204140:exon15:c.1623+1G>C;NM_001204138:exon16:c.1788+1G>C;NM_001204137:exon16:c.1791+1G>C;NM_001204151:exon12:c.1509+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1566+1G>C;ENST00000592060:exon10:c.1112+1G>C;ENST00000382948:exon15:c.1716+1G>C;ENST00000353909:exon14:c.1569+1G>C;ENST00000591416:exon15:c.1716+1G>C;ENST00000349085:exon13:c.1410+1G>C;ENST00000436910:exon13:c.1509+1G>C;ENST00000347968:exon14:c.1548+1G>C;ENST00000269468:exon15:c.1716+1G>C;ENST00000269471:exon13:c.1509+1G>C;ENST00000339998:exon14:c.1578+1G>C;ENST00000590208:exon15:c.1716+1G>C;ENST00000587605:exon13:c.1410+1G>C;ENST00000588937:exon12:c.1509+1G>C;ENST00000424334:exon16:c.1869+1G>C;ENST00000585595:exon16:c.1791+1G>C;ENST00000589541:exon6:c.621+1G>C;ENST00000457839:exon16:c.1791+1G>C;ENST00000398493:exon14:c.1548+1G>C;ENST00000591535:exon12:c.1509+1G>C;ENST00000398488:exon12:c.1410+1G>C)	.	.	0.999992425382947	0.94
18	47799193	C	T	18	50272823	y	y	splicing	MBD1(NM_001204139:exon15:c.1716+1G>A;NM_001204141:exon14:c.1566+1G>A;NM_002384:exon13:c.1410+1G>A;NM_015847:exon14:c.1569+1G>A;NM_015846:exon15:c.1716+1G>A;NM_015845:exon13:c.1509+1G>A;NM_001204136:exon15:c.1716+1G>A;NM_015844:exon14:c.1548+1G>A;NM_001204143:exon13:c.1410+1G>A;NM_001204142:exon14:c.1578+1G>A;NM_001204140:exon15:c.1623+1G>A;NM_001204138:exon16:c.1788+1G>A;NM_001204137:exon16:c.1791+1G>A;NM_001204151:exon12:c.1509+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1566+1G>A;ENST00000592060:exon10:c.1112+1G>A;ENST00000382948:exon15:c.1716+1G>A;ENST00000353909:exon14:c.1569+1G>A;ENST00000591416:exon15:c.1716+1G>A;ENST00000349085:exon13:c.1410+1G>A;ENST00000436910:exon13:c.1509+1G>A;ENST00000347968:exon14:c.1548+1G>A;ENST00000269468:exon15:c.1716+1G>A;ENST00000269471:exon13:c.1509+1G>A;ENST00000339998:exon14:c.1578+1G>A;ENST00000590208:exon15:c.1716+1G>A;ENST00000587605:exon13:c.1410+1G>A;ENST00000588937:exon12:c.1509+1G>A;ENST00000424334:exon16:c.1869+1G>A;ENST00000585595:exon16:c.1791+1G>A;ENST00000589541:exon6:c.621+1G>A;ENST00000457839:exon16:c.1791+1G>A;ENST00000398493:exon14:c.1548+1G>A;ENST00000591535:exon12:c.1509+1G>A;ENST00000398488:exon12:c.1410+1G>A)	.	.	0.999992425382947	0.94
18	47799194	C	A	18	50272824	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon12:c.G1410T:p.V470V;MBD1:NM_001204151:exon11:c.G1509T:p.V503V;MBD1:NM_001204137:exon15:c.G1791T:p.V597V;MBD1:NM_015845:exon12:c.G1509T:p.V503V;MBD1:NM_001204142:exon13:c.G1578T:p.V526V;MBD1:NM_001204143:exon12:c.G1410T:p.V470V;MBD1:NM_001204138:exon15:c.G1788T:p.V596V;MBD1:NM_015846:exon14:c.G1716T:p.V572V;MBD1:NM_001204140:exon14:c.G1623T:p.V541V;MBD1:NM_001204139:exon14:c.G1716T:p.V572V;MBD1:NM_015844:exon13:c.G1548T:p.V516V;MBD1:NM_001204136:exon14:c.G1716T:p.V572V;MBD1:NM_015847:exon13:c.G1569T:p.V523V;MBD1:NM_001204141:exon13:c.G1566T:p.V522V;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1791T:p.V597V;ENSG00000141644:ENST00000424334:exon15:c.G1869T:p.V623V;ENSG00000141644:ENST00000591535:exon11:c.G1509T:p.V503V;ENSG00000141644:ENST00000398493:exon13:c.G1548T:p.V516V;ENSG00000141644:ENST00000398488:exon11:c.G1410T:p.V470V;ENSG00000141644:ENST00000353909:exon13:c.G1569T:p.V523V;ENSG00000141644:ENST00000339998:exon13:c.G1578T:p.V526V;ENSG00000141644:ENST00000589541:exon5:c.G621T:p.V207V;ENSG00000141644:ENST00000591416:exon14:c.G1716T:p.V572V;ENSG00000141644:ENST00000269471:exon12:c.G1509T:p.V503V;ENSG00000141644:ENST00000457839:exon15:c.G1791T:p.V597V;ENSG00000141644:ENST00000590208:exon14:c.G1716T:p.V572V;ENSG00000141644:ENST00000347968:exon13:c.G1548T:p.V516V;ENSG00000141644:ENST00000382948:exon14:c.G1716T:p.V572V;ENSG00000141644:ENST00000588937:exon11:c.G1509T:p.V503V;ENSG00000141644:ENST00000349085:exon12:c.G1410T:p.V470V;ENSG00000141644:ENST00000436910:exon12:c.G1509T:p.V503V;ENSG00000141644:ENST00000269468:exon14:c.G1716T:p.V572V;ENSG00000141644:ENST00000585672:exon13:c.G1566T:p.V522V;ENSG00000141644:ENST00000587605:exon12:c.G1410T:p.V470V;	0.999977812387451	0.984
18	47799194	C	G	18	50272824	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon12:c.G1410C:p.V470V;MBD1:NM_001204151:exon11:c.G1509C:p.V503V;MBD1:NM_001204137:exon15:c.G1791C:p.V597V;MBD1:NM_015845:exon12:c.G1509C:p.V503V;MBD1:NM_001204142:exon13:c.G1578C:p.V526V;MBD1:NM_001204143:exon12:c.G1410C:p.V470V;MBD1:NM_001204138:exon15:c.G1788C:p.V596V;MBD1:NM_015846:exon14:c.G1716C:p.V572V;MBD1:NM_001204140:exon14:c.G1623C:p.V541V;MBD1:NM_001204139:exon14:c.G1716C:p.V572V;MBD1:NM_015844:exon13:c.G1548C:p.V516V;MBD1:NM_001204136:exon14:c.G1716C:p.V572V;MBD1:NM_015847:exon13:c.G1569C:p.V523V;MBD1:NM_001204141:exon13:c.G1566C:p.V522V;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1791C:p.V597V;ENSG00000141644:ENST00000424334:exon15:c.G1869C:p.V623V;ENSG00000141644:ENST00000591535:exon11:c.G1509C:p.V503V;ENSG00000141644:ENST00000398493:exon13:c.G1548C:p.V516V;ENSG00000141644:ENST00000398488:exon11:c.G1410C:p.V470V;ENSG00000141644:ENST00000353909:exon13:c.G1569C:p.V523V;ENSG00000141644:ENST00000339998:exon13:c.G1578C:p.V526V;ENSG00000141644:ENST00000589541:exon5:c.G621C:p.V207V;ENSG00000141644:ENST00000591416:exon14:c.G1716C:p.V572V;ENSG00000141644:ENST00000269471:exon12:c.G1509C:p.V503V;ENSG00000141644:ENST00000457839:exon15:c.G1791C:p.V597V;ENSG00000141644:ENST00000590208:exon14:c.G1716C:p.V572V;ENSG00000141644:ENST00000347968:exon13:c.G1548C:p.V516V;ENSG00000141644:ENST00000382948:exon14:c.G1716C:p.V572V;ENSG00000141644:ENST00000588937:exon11:c.G1509C:p.V503V;ENSG00000141644:ENST00000349085:exon12:c.G1410C:p.V470V;ENSG00000141644:ENST00000436910:exon12:c.G1509C:p.V503V;ENSG00000141644:ENST00000269468:exon14:c.G1716C:p.V572V;ENSG00000141644:ENST00000585672:exon13:c.G1566C:p.V522V;ENSG00000141644:ENST00000587605:exon12:c.G1410C:p.V470V;	0.999994909984659	0.97
18	47799194	C	T	18	50272824	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon12:c.G1410A:p.V470V;MBD1:NM_001204151:exon11:c.G1509A:p.V503V;MBD1:NM_001204137:exon15:c.G1791A:p.V597V;MBD1:NM_015845:exon12:c.G1509A:p.V503V;MBD1:NM_001204142:exon13:c.G1578A:p.V526V;MBD1:NM_001204143:exon12:c.G1410A:p.V470V;MBD1:NM_001204138:exon15:c.G1788A:p.V596V;MBD1:NM_015846:exon14:c.G1716A:p.V572V;MBD1:NM_001204140:exon14:c.G1623A:p.V541V;MBD1:NM_001204139:exon14:c.G1716A:p.V572V;MBD1:NM_015844:exon13:c.G1548A:p.V516V;MBD1:NM_001204136:exon14:c.G1716A:p.V572V;MBD1:NM_015847:exon13:c.G1569A:p.V523V;MBD1:NM_001204141:exon13:c.G1566A:p.V522V;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1791A:p.V597V;ENSG00000141644:ENST00000424334:exon15:c.G1869A:p.V623V;ENSG00000141644:ENST00000591535:exon11:c.G1509A:p.V503V;ENSG00000141644:ENST00000398493:exon13:c.G1548A:p.V516V;ENSG00000141644:ENST00000398488:exon11:c.G1410A:p.V470V;ENSG00000141644:ENST00000353909:exon13:c.G1569A:p.V523V;ENSG00000141644:ENST00000339998:exon13:c.G1578A:p.V526V;ENSG00000141644:ENST00000589541:exon5:c.G621A:p.V207V;ENSG00000141644:ENST00000591416:exon14:c.G1716A:p.V572V;ENSG00000141644:ENST00000269471:exon12:c.G1509A:p.V503V;ENSG00000141644:ENST00000457839:exon15:c.G1791A:p.V597V;ENSG00000141644:ENST00000590208:exon14:c.G1716A:p.V572V;ENSG00000141644:ENST00000347968:exon13:c.G1548A:p.V516V;ENSG00000141644:ENST00000382948:exon14:c.G1716A:p.V572V;ENSG00000141644:ENST00000588937:exon11:c.G1509A:p.V503V;ENSG00000141644:ENST00000349085:exon12:c.G1410A:p.V470V;ENSG00000141644:ENST00000436910:exon12:c.G1509A:p.V503V;ENSG00000141644:ENST00000269468:exon14:c.G1716A:p.V572V;ENSG00000141644:ENST00000585672:exon13:c.G1566A:p.V522V;ENSG00000141644:ENST00000587605:exon12:c.G1410A:p.V470V;	0.999993376366471	0.996
18	47799195	A	C	18	50272825	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.T1409G:p.V470G;MBD1:NM_001204151:exon11:c.T1508G:p.V503G;MBD1:NM_001204137:exon15:c.T1790G:p.V597G;MBD1:NM_015845:exon12:c.T1508G:p.V503G;MBD1:NM_001204142:exon13:c.T1577G:p.V526G;MBD1:NM_001204143:exon12:c.T1409G:p.V470G;MBD1:NM_001204138:exon15:c.T1787G:p.V596G;MBD1:NM_015846:exon14:c.T1715G:p.V572G;MBD1:NM_001204140:exon14:c.T1622G:p.V541G;MBD1:NM_001204139:exon14:c.T1715G:p.V572G;MBD1:NM_015844:exon13:c.T1547G:p.V516G;MBD1:NM_001204136:exon14:c.T1715G:p.V572G;MBD1:NM_015847:exon13:c.T1568G:p.V523G;MBD1:NM_001204141:exon13:c.T1565G:p.V522G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.T1790G:p.V597G;ENSG00000141644:ENST00000424334:exon15:c.T1868G:p.V623G;ENSG00000141644:ENST00000591535:exon11:c.T1508G:p.V503G;ENSG00000141644:ENST00000398493:exon13:c.T1547G:p.V516G;ENSG00000141644:ENST00000398488:exon11:c.T1409G:p.V470G;ENSG00000141644:ENST00000353909:exon13:c.T1568G:p.V523G;ENSG00000141644:ENST00000339998:exon13:c.T1577G:p.V526G;ENSG00000141644:ENST00000589541:exon5:c.T620G:p.V207G;ENSG00000141644:ENST00000591416:exon14:c.T1715G:p.V572G;ENSG00000141644:ENST00000269471:exon12:c.T1508G:p.V503G;ENSG00000141644:ENST00000457839:exon15:c.T1790G:p.V597G;ENSG00000141644:ENST00000590208:exon14:c.T1715G:p.V572G;ENSG00000141644:ENST00000347968:exon13:c.T1547G:p.V516G;ENSG00000141644:ENST00000382948:exon14:c.T1715G:p.V572G;ENSG00000141644:ENST00000588937:exon11:c.T1508G:p.V503G;ENSG00000141644:ENST00000349085:exon12:c.T1409G:p.V470G;ENSG00000141644:ENST00000436910:exon12:c.T1508G:p.V503G;ENSG00000141644:ENST00000269468:exon14:c.T1715G:p.V572G;ENSG00000141644:ENST00000585672:exon13:c.T1565G:p.V522G;ENSG00000141644:ENST00000587605:exon12:c.T1409G:p.V470G;	0.970181156426523	0.822
18	47799195	A	G	18	50272825	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.T1409C:p.V470A;MBD1:NM_001204151:exon11:c.T1508C:p.V503A;MBD1:NM_001204137:exon15:c.T1790C:p.V597A;MBD1:NM_015845:exon12:c.T1508C:p.V503A;MBD1:NM_001204142:exon13:c.T1577C:p.V526A;MBD1:NM_001204143:exon12:c.T1409C:p.V470A;MBD1:NM_001204138:exon15:c.T1787C:p.V596A;MBD1:NM_015846:exon14:c.T1715C:p.V572A;MBD1:NM_001204140:exon14:c.T1622C:p.V541A;MBD1:NM_001204139:exon14:c.T1715C:p.V572A;MBD1:NM_015844:exon13:c.T1547C:p.V516A;MBD1:NM_001204136:exon14:c.T1715C:p.V572A;MBD1:NM_015847:exon13:c.T1568C:p.V523A;MBD1:NM_001204141:exon13:c.T1565C:p.V522A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.T1790C:p.V597A;ENSG00000141644:ENST00000424334:exon15:c.T1868C:p.V623A;ENSG00000141644:ENST00000591535:exon11:c.T1508C:p.V503A;ENSG00000141644:ENST00000398493:exon13:c.T1547C:p.V516A;ENSG00000141644:ENST00000398488:exon11:c.T1409C:p.V470A;ENSG00000141644:ENST00000353909:exon13:c.T1568C:p.V523A;ENSG00000141644:ENST00000339998:exon13:c.T1577C:p.V526A;ENSG00000141644:ENST00000589541:exon5:c.T620C:p.V207A;ENSG00000141644:ENST00000591416:exon14:c.T1715C:p.V572A;ENSG00000141644:ENST00000269471:exon12:c.T1508C:p.V503A;ENSG00000141644:ENST00000457839:exon15:c.T1790C:p.V597A;ENSG00000141644:ENST00000590208:exon14:c.T1715C:p.V572A;ENSG00000141644:ENST00000347968:exon13:c.T1547C:p.V516A;ENSG00000141644:ENST00000382948:exon14:c.T1715C:p.V572A;ENSG00000141644:ENST00000588937:exon11:c.T1508C:p.V503A;ENSG00000141644:ENST00000349085:exon12:c.T1409C:p.V470A;ENSG00000141644:ENST00000436910:exon12:c.T1508C:p.V503A;ENSG00000141644:ENST00000269468:exon14:c.T1715C:p.V572A;ENSG00000141644:ENST00000585672:exon13:c.T1565C:p.V522A;ENSG00000141644:ENST00000587605:exon12:c.T1409C:p.V470A;	0.971081783794619	0.822
18	47799195	A	T	18	50272825	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.T1409A:p.V470E;MBD1:NM_001204151:exon11:c.T1508A:p.V503E;MBD1:NM_001204137:exon15:c.T1790A:p.V597E;MBD1:NM_015845:exon12:c.T1508A:p.V503E;MBD1:NM_001204142:exon13:c.T1577A:p.V526E;MBD1:NM_001204143:exon12:c.T1409A:p.V470E;MBD1:NM_001204138:exon15:c.T1787A:p.V596E;MBD1:NM_015846:exon14:c.T1715A:p.V572E;MBD1:NM_001204140:exon14:c.T1622A:p.V541E;MBD1:NM_001204139:exon14:c.T1715A:p.V572E;MBD1:NM_015844:exon13:c.T1547A:p.V516E;MBD1:NM_001204136:exon14:c.T1715A:p.V572E;MBD1:NM_015847:exon13:c.T1568A:p.V523E;MBD1:NM_001204141:exon13:c.T1565A:p.V522E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.T1790A:p.V597E;ENSG00000141644:ENST00000424334:exon15:c.T1868A:p.V623E;ENSG00000141644:ENST00000591535:exon11:c.T1508A:p.V503E;ENSG00000141644:ENST00000398493:exon13:c.T1547A:p.V516E;ENSG00000141644:ENST00000398488:exon11:c.T1409A:p.V470E;ENSG00000141644:ENST00000353909:exon13:c.T1568A:p.V523E;ENSG00000141644:ENST00000339998:exon13:c.T1577A:p.V526E;ENSG00000141644:ENST00000589541:exon5:c.T620A:p.V207E;ENSG00000141644:ENST00000591416:exon14:c.T1715A:p.V572E;ENSG00000141644:ENST00000269471:exon12:c.T1508A:p.V503E;ENSG00000141644:ENST00000457839:exon15:c.T1790A:p.V597E;ENSG00000141644:ENST00000590208:exon14:c.T1715A:p.V572E;ENSG00000141644:ENST00000347968:exon13:c.T1547A:p.V516E;ENSG00000141644:ENST00000382948:exon14:c.T1715A:p.V572E;ENSG00000141644:ENST00000588937:exon11:c.T1508A:p.V503E;ENSG00000141644:ENST00000349085:exon12:c.T1409A:p.V470E;ENSG00000141644:ENST00000436910:exon12:c.T1508A:p.V503E;ENSG00000141644:ENST00000269468:exon14:c.T1715A:p.V572E;ENSG00000141644:ENST00000585672:exon13:c.T1565A:p.V522E;ENSG00000141644:ENST00000587605:exon12:c.T1409A:p.V470E;	0.787306531477471	0.542
18	47799196	C	A	18	50272826	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.G1408T:p.V470L;MBD1:NM_001204151:exon11:c.G1507T:p.V503L;MBD1:NM_001204137:exon15:c.G1789T:p.V597L;MBD1:NM_015845:exon12:c.G1507T:p.V503L;MBD1:NM_001204142:exon13:c.G1576T:p.V526L;MBD1:NM_001204143:exon12:c.G1408T:p.V470L;MBD1:NM_001204138:exon15:c.G1786T:p.V596L;MBD1:NM_015846:exon14:c.G1714T:p.V572L;MBD1:NM_001204140:exon14:c.G1621T:p.V541L;MBD1:NM_001204139:exon14:c.G1714T:p.V572L;MBD1:NM_015844:exon13:c.G1546T:p.V516L;MBD1:NM_001204136:exon14:c.G1714T:p.V572L;MBD1:NM_015847:exon13:c.G1567T:p.V523L;MBD1:NM_001204141:exon13:c.G1564T:p.V522L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1789T:p.V597L;ENSG00000141644:ENST00000424334:exon15:c.G1867T:p.V623L;ENSG00000141644:ENST00000591535:exon11:c.G1507T:p.V503L;ENSG00000141644:ENST00000398493:exon13:c.G1546T:p.V516L;ENSG00000141644:ENST00000398488:exon11:c.G1408T:p.V470L;ENSG00000141644:ENST00000353909:exon13:c.G1567T:p.V523L;ENSG00000141644:ENST00000339998:exon13:c.G1576T:p.V526L;ENSG00000141644:ENST00000589541:exon5:c.G619T:p.V207L;ENSG00000141644:ENST00000591416:exon14:c.G1714T:p.V572L;ENSG00000141644:ENST00000269471:exon12:c.G1507T:p.V503L;ENSG00000141644:ENST00000457839:exon15:c.G1789T:p.V597L;ENSG00000141644:ENST00000590208:exon14:c.G1714T:p.V572L;ENSG00000141644:ENST00000347968:exon13:c.G1546T:p.V516L;ENSG00000141644:ENST00000382948:exon14:c.G1714T:p.V572L;ENSG00000141644:ENST00000588937:exon11:c.G1507T:p.V503L;ENSG00000141644:ENST00000349085:exon12:c.G1408T:p.V470L;ENSG00000141644:ENST00000436910:exon12:c.G1507T:p.V503L;ENSG00000141644:ENST00000269468:exon14:c.G1714T:p.V572L;ENSG00000141644:ENST00000585672:exon13:c.G1564T:p.V522L;ENSG00000141644:ENST00000587605:exon12:c.G1408T:p.V470L;	0.988400726181012	0.866
18	47799196	C	G	18	50272826	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.G1408C:p.V470L;MBD1:NM_001204151:exon11:c.G1507C:p.V503L;MBD1:NM_001204137:exon15:c.G1789C:p.V597L;MBD1:NM_015845:exon12:c.G1507C:p.V503L;MBD1:NM_001204142:exon13:c.G1576C:p.V526L;MBD1:NM_001204143:exon12:c.G1408C:p.V470L;MBD1:NM_001204138:exon15:c.G1786C:p.V596L;MBD1:NM_015846:exon14:c.G1714C:p.V572L;MBD1:NM_001204140:exon14:c.G1621C:p.V541L;MBD1:NM_001204139:exon14:c.G1714C:p.V572L;MBD1:NM_015844:exon13:c.G1546C:p.V516L;MBD1:NM_001204136:exon14:c.G1714C:p.V572L;MBD1:NM_015847:exon13:c.G1567C:p.V523L;MBD1:NM_001204141:exon13:c.G1564C:p.V522L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1789C:p.V597L;ENSG00000141644:ENST00000424334:exon15:c.G1867C:p.V623L;ENSG00000141644:ENST00000591535:exon11:c.G1507C:p.V503L;ENSG00000141644:ENST00000398493:exon13:c.G1546C:p.V516L;ENSG00000141644:ENST00000398488:exon11:c.G1408C:p.V470L;ENSG00000141644:ENST00000353909:exon13:c.G1567C:p.V523L;ENSG00000141644:ENST00000339998:exon13:c.G1576C:p.V526L;ENSG00000141644:ENST00000589541:exon5:c.G619C:p.V207L;ENSG00000141644:ENST00000591416:exon14:c.G1714C:p.V572L;ENSG00000141644:ENST00000269471:exon12:c.G1507C:p.V503L;ENSG00000141644:ENST00000457839:exon15:c.G1789C:p.V597L;ENSG00000141644:ENST00000590208:exon14:c.G1714C:p.V572L;ENSG00000141644:ENST00000347968:exon13:c.G1546C:p.V516L;ENSG00000141644:ENST00000382948:exon14:c.G1714C:p.V572L;ENSG00000141644:ENST00000588937:exon11:c.G1507C:p.V503L;ENSG00000141644:ENST00000349085:exon12:c.G1408C:p.V470L;ENSG00000141644:ENST00000436910:exon12:c.G1507C:p.V503L;ENSG00000141644:ENST00000269468:exon14:c.G1714C:p.V572L;ENSG00000141644:ENST00000585672:exon13:c.G1564C:p.V522L;ENSG00000141644:ENST00000587605:exon12:c.G1408C:p.V470L;	0.962193157412438	0.728
18	47799196	C	T	18	50272826	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.G1408A:p.V470M;MBD1:NM_001204151:exon11:c.G1507A:p.V503M;MBD1:NM_001204137:exon15:c.G1789A:p.V597M;MBD1:NM_015845:exon12:c.G1507A:p.V503M;MBD1:NM_001204142:exon13:c.G1576A:p.V526M;MBD1:NM_001204143:exon12:c.G1408A:p.V470M;MBD1:NM_001204138:exon15:c.G1786A:p.V596M;MBD1:NM_015846:exon14:c.G1714A:p.V572M;MBD1:NM_001204140:exon14:c.G1621A:p.V541M;MBD1:NM_001204139:exon14:c.G1714A:p.V572M;MBD1:NM_015844:exon13:c.G1546A:p.V516M;MBD1:NM_001204136:exon14:c.G1714A:p.V572M;MBD1:NM_015847:exon13:c.G1567A:p.V523M;MBD1:NM_001204141:exon13:c.G1564A:p.V522M;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1789A:p.V597M;ENSG00000141644:ENST00000424334:exon15:c.G1867A:p.V623M;ENSG00000141644:ENST00000591535:exon11:c.G1507A:p.V503M;ENSG00000141644:ENST00000398493:exon13:c.G1546A:p.V516M;ENSG00000141644:ENST00000398488:exon11:c.G1408A:p.V470M;ENSG00000141644:ENST00000353909:exon13:c.G1567A:p.V523M;ENSG00000141644:ENST00000339998:exon13:c.G1576A:p.V526M;ENSG00000141644:ENST00000589541:exon5:c.G619A:p.V207M;ENSG00000141644:ENST00000591416:exon14:c.G1714A:p.V572M;ENSG00000141644:ENST00000269471:exon12:c.G1507A:p.V503M;ENSG00000141644:ENST00000457839:exon15:c.G1789A:p.V597M;ENSG00000141644:ENST00000590208:exon14:c.G1714A:p.V572M;ENSG00000141644:ENST00000347968:exon13:c.G1546A:p.V516M;ENSG00000141644:ENST00000382948:exon14:c.G1714A:p.V572M;ENSG00000141644:ENST00000588937:exon11:c.G1507A:p.V503M;ENSG00000141644:ENST00000349085:exon12:c.G1408A:p.V470M;ENSG00000141644:ENST00000436910:exon12:c.G1507A:p.V503M;ENSG00000141644:ENST00000269468:exon14:c.G1714A:p.V572M;ENSG00000141644:ENST00000585672:exon13:c.G1564A:p.V522M;ENSG00000141644:ENST00000587605:exon12:c.G1408A:p.V470M;	0.96167016844128	0.652
18	47799324	G	A	18	50272954	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.C1280T:p.A427V;MBD1:NM_001204151:exon11:c.C1379T:p.A460V;MBD1:NM_001204137:exon15:c.C1661T:p.A554V;MBD1:NM_015845:exon12:c.C1379T:p.A460V;MBD1:NM_001204142:exon13:c.C1448T:p.A483V;MBD1:NM_001204143:exon12:c.C1280T:p.A427V;MBD1:NM_001204138:exon15:c.C1658T:p.A553V;MBD1:NM_015846:exon14:c.C1586T:p.A529V;MBD1:NM_001204140:exon14:c.C1493T:p.A498V;MBD1:NM_001204139:exon14:c.C1586T:p.A529V;MBD1:NM_015844:exon13:c.C1418T:p.A473V;MBD1:NM_001204136:exon14:c.C1586T:p.A529V;MBD1:NM_015847:exon13:c.C1439T:p.A480V;MBD1:NM_001204141:exon13:c.C1436T:p.A479V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.C1661T:p.A554V;ENSG00000141644:ENST00000424334:exon15:c.C1739T:p.A580V;ENSG00000141644:ENST00000591535:exon11:c.C1379T:p.A460V;ENSG00000141644:ENST00000398493:exon13:c.C1418T:p.A473V;ENSG00000141644:ENST00000398488:exon11:c.C1280T:p.A427V;ENSG00000141644:ENST00000353909:exon13:c.C1439T:p.A480V;ENSG00000141644:ENST00000339998:exon13:c.C1448T:p.A483V;ENSG00000141644:ENST00000589541:exon5:c.C491T:p.A164V;ENSG00000141644:ENST00000591416:exon14:c.C1586T:p.A529V;ENSG00000141644:ENST00000269471:exon12:c.C1379T:p.A460V;ENSG00000141644:ENST00000457839:exon15:c.C1661T:p.A554V;ENSG00000141644:ENST00000590208:exon14:c.C1586T:p.A529V;ENSG00000141644:ENST00000347968:exon13:c.C1418T:p.A473V;ENSG00000141644:ENST00000382948:exon14:c.C1586T:p.A529V;ENSG00000141644:ENST00000588937:exon11:c.C1379T:p.A460V;ENSG00000141644:ENST00000349085:exon12:c.C1280T:p.A427V;ENSG00000141644:ENST00000436910:exon12:c.C1379T:p.A460V;ENSG00000141644:ENST00000269468:exon14:c.C1586T:p.A529V;ENSG00000141644:ENST00000398495:exon13:c.C1493T:p.A498V;ENSG00000141644:ENST00000585672:exon13:c.C1436T:p.A479V;ENSG00000141644:ENST00000587605:exon12:c.C1280T:p.A427V;	1.44870755511664E-4	0.004
18	47799324	G	C	18	50272954	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.C1280G:p.A427G;MBD1:NM_001204151:exon11:c.C1379G:p.A460G;MBD1:NM_001204137:exon15:c.C1661G:p.A554G;MBD1:NM_015845:exon12:c.C1379G:p.A460G;MBD1:NM_001204142:exon13:c.C1448G:p.A483G;MBD1:NM_001204143:exon12:c.C1280G:p.A427G;MBD1:NM_001204138:exon15:c.C1658G:p.A553G;MBD1:NM_015846:exon14:c.C1586G:p.A529G;MBD1:NM_001204140:exon14:c.C1493G:p.A498G;MBD1:NM_001204139:exon14:c.C1586G:p.A529G;MBD1:NM_015844:exon13:c.C1418G:p.A473G;MBD1:NM_001204136:exon14:c.C1586G:p.A529G;MBD1:NM_015847:exon13:c.C1439G:p.A480G;MBD1:NM_001204141:exon13:c.C1436G:p.A479G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.C1661G:p.A554G;ENSG00000141644:ENST00000424334:exon15:c.C1739G:p.A580G;ENSG00000141644:ENST00000591535:exon11:c.C1379G:p.A460G;ENSG00000141644:ENST00000398493:exon13:c.C1418G:p.A473G;ENSG00000141644:ENST00000398488:exon11:c.C1280G:p.A427G;ENSG00000141644:ENST00000353909:exon13:c.C1439G:p.A480G;ENSG00000141644:ENST00000339998:exon13:c.C1448G:p.A483G;ENSG00000141644:ENST00000589541:exon5:c.C491G:p.A164G;ENSG00000141644:ENST00000591416:exon14:c.C1586G:p.A529G;ENSG00000141644:ENST00000269471:exon12:c.C1379G:p.A460G;ENSG00000141644:ENST00000457839:exon15:c.C1661G:p.A554G;ENSG00000141644:ENST00000590208:exon14:c.C1586G:p.A529G;ENSG00000141644:ENST00000347968:exon13:c.C1418G:p.A473G;ENSG00000141644:ENST00000382948:exon14:c.C1586G:p.A529G;ENSG00000141644:ENST00000588937:exon11:c.C1379G:p.A460G;ENSG00000141644:ENST00000349085:exon12:c.C1280G:p.A427G;ENSG00000141644:ENST00000436910:exon12:c.C1379G:p.A460G;ENSG00000141644:ENST00000269468:exon14:c.C1586G:p.A529G;ENSG00000141644:ENST00000398495:exon13:c.C1493G:p.A498G;ENSG00000141644:ENST00000585672:exon13:c.C1436G:p.A479G;ENSG00000141644:ENST00000587605:exon12:c.C1280G:p.A427G;	1.59368830173561E-4	0.03
18	47799324	G	T	18	50272954	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.C1280A:p.A427E;MBD1:NM_001204151:exon11:c.C1379A:p.A460E;MBD1:NM_001204137:exon15:c.C1661A:p.A554E;MBD1:NM_015845:exon12:c.C1379A:p.A460E;MBD1:NM_001204142:exon13:c.C1448A:p.A483E;MBD1:NM_001204143:exon12:c.C1280A:p.A427E;MBD1:NM_001204138:exon15:c.C1658A:p.A553E;MBD1:NM_015846:exon14:c.C1586A:p.A529E;MBD1:NM_001204140:exon14:c.C1493A:p.A498E;MBD1:NM_001204139:exon14:c.C1586A:p.A529E;MBD1:NM_015844:exon13:c.C1418A:p.A473E;MBD1:NM_001204136:exon14:c.C1586A:p.A529E;MBD1:NM_015847:exon13:c.C1439A:p.A480E;MBD1:NM_001204141:exon13:c.C1436A:p.A479E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.C1661A:p.A554E;ENSG00000141644:ENST00000424334:exon15:c.C1739A:p.A580E;ENSG00000141644:ENST00000591535:exon11:c.C1379A:p.A460E;ENSG00000141644:ENST00000398493:exon13:c.C1418A:p.A473E;ENSG00000141644:ENST00000398488:exon11:c.C1280A:p.A427E;ENSG00000141644:ENST00000353909:exon13:c.C1439A:p.A480E;ENSG00000141644:ENST00000339998:exon13:c.C1448A:p.A483E;ENSG00000141644:ENST00000589541:exon5:c.C491A:p.A164E;ENSG00000141644:ENST00000591416:exon14:c.C1586A:p.A529E;ENSG00000141644:ENST00000269471:exon12:c.C1379A:p.A460E;ENSG00000141644:ENST00000457839:exon15:c.C1661A:p.A554E;ENSG00000141644:ENST00000590208:exon14:c.C1586A:p.A529E;ENSG00000141644:ENST00000347968:exon13:c.C1418A:p.A473E;ENSG00000141644:ENST00000382948:exon14:c.C1586A:p.A529E;ENSG00000141644:ENST00000588937:exon11:c.C1379A:p.A460E;ENSG00000141644:ENST00000349085:exon12:c.C1280A:p.A427E;ENSG00000141644:ENST00000436910:exon12:c.C1379A:p.A460E;ENSG00000141644:ENST00000269468:exon14:c.C1586A:p.A529E;ENSG00000141644:ENST00000398495:exon13:c.C1493A:p.A498E;ENSG00000141644:ENST00000585672:exon13:c.C1436A:p.A479E;ENSG00000141644:ENST00000587605:exon12:c.C1280A:p.A427E;	1.17750076107095E-4	0.012
18	47799325	C	A	18	50272955	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.G1279T:p.A427S;MBD1:NM_001204151:exon11:c.G1378T:p.A460S;MBD1:NM_001204137:exon15:c.G1660T:p.A554S;MBD1:NM_015845:exon12:c.G1378T:p.A460S;MBD1:NM_001204142:exon13:c.G1447T:p.A483S;MBD1:NM_001204143:exon12:c.G1279T:p.A427S;MBD1:NM_001204138:exon15:c.G1657T:p.A553S;MBD1:NM_015846:exon14:c.G1585T:p.A529S;MBD1:NM_001204140:exon14:c.G1492T:p.A498S;MBD1:NM_001204139:exon14:c.G1585T:p.A529S;MBD1:NM_015844:exon13:c.G1417T:p.A473S;MBD1:NM_001204136:exon14:c.G1585T:p.A529S;MBD1:NM_015847:exon13:c.G1438T:p.A480S;MBD1:NM_001204141:exon13:c.G1435T:p.A479S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1660T:p.A554S;ENSG00000141644:ENST00000424334:exon15:c.G1738T:p.A580S;ENSG00000141644:ENST00000591535:exon11:c.G1378T:p.A460S;ENSG00000141644:ENST00000398493:exon13:c.G1417T:p.A473S;ENSG00000141644:ENST00000398488:exon11:c.G1279T:p.A427S;ENSG00000141644:ENST00000353909:exon13:c.G1438T:p.A480S;ENSG00000141644:ENST00000339998:exon13:c.G1447T:p.A483S;ENSG00000141644:ENST00000589541:exon5:c.G490T:p.A164S;ENSG00000141644:ENST00000591416:exon14:c.G1585T:p.A529S;ENSG00000141644:ENST00000269471:exon12:c.G1378T:p.A460S;ENSG00000141644:ENST00000457839:exon15:c.G1660T:p.A554S;ENSG00000141644:ENST00000590208:exon14:c.G1585T:p.A529S;ENSG00000141644:ENST00000347968:exon13:c.G1417T:p.A473S;ENSG00000141644:ENST00000382948:exon14:c.G1585T:p.A529S;ENSG00000141644:ENST00000588937:exon11:c.G1378T:p.A460S;ENSG00000141644:ENST00000349085:exon12:c.G1279T:p.A427S;ENSG00000141644:ENST00000436910:exon12:c.G1378T:p.A460S;ENSG00000141644:ENST00000269468:exon14:c.G1585T:p.A529S;ENSG00000141644:ENST00000398495:exon13:c.G1492T:p.A498S;ENSG00000141644:ENST00000585672:exon13:c.G1435T:p.A479S;ENSG00000141644:ENST00000587605:exon12:c.G1279T:p.A427S;	0.433817202724346	0.478
18	47799325	C	G	18	50272955	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.G1279C:p.A427P;MBD1:NM_001204151:exon11:c.G1378C:p.A460P;MBD1:NM_001204137:exon15:c.G1660C:p.A554P;MBD1:NM_015845:exon12:c.G1378C:p.A460P;MBD1:NM_001204142:exon13:c.G1447C:p.A483P;MBD1:NM_001204143:exon12:c.G1279C:p.A427P;MBD1:NM_001204138:exon15:c.G1657C:p.A553P;MBD1:NM_015846:exon14:c.G1585C:p.A529P;MBD1:NM_001204140:exon14:c.G1492C:p.A498P;MBD1:NM_001204139:exon14:c.G1585C:p.A529P;MBD1:NM_015844:exon13:c.G1417C:p.A473P;MBD1:NM_001204136:exon14:c.G1585C:p.A529P;MBD1:NM_015847:exon13:c.G1438C:p.A480P;MBD1:NM_001204141:exon13:c.G1435C:p.A479P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1660C:p.A554P;ENSG00000141644:ENST00000424334:exon15:c.G1738C:p.A580P;ENSG00000141644:ENST00000591535:exon11:c.G1378C:p.A460P;ENSG00000141644:ENST00000398493:exon13:c.G1417C:p.A473P;ENSG00000141644:ENST00000398488:exon11:c.G1279C:p.A427P;ENSG00000141644:ENST00000353909:exon13:c.G1438C:p.A480P;ENSG00000141644:ENST00000339998:exon13:c.G1447C:p.A483P;ENSG00000141644:ENST00000589541:exon5:c.G490C:p.A164P;ENSG00000141644:ENST00000591416:exon14:c.G1585C:p.A529P;ENSG00000141644:ENST00000269471:exon12:c.G1378C:p.A460P;ENSG00000141644:ENST00000457839:exon15:c.G1660C:p.A554P;ENSG00000141644:ENST00000590208:exon14:c.G1585C:p.A529P;ENSG00000141644:ENST00000347968:exon13:c.G1417C:p.A473P;ENSG00000141644:ENST00000382948:exon14:c.G1585C:p.A529P;ENSG00000141644:ENST00000588937:exon11:c.G1378C:p.A460P;ENSG00000141644:ENST00000349085:exon12:c.G1279C:p.A427P;ENSG00000141644:ENST00000436910:exon12:c.G1378C:p.A460P;ENSG00000141644:ENST00000269468:exon14:c.G1585C:p.A529P;ENSG00000141644:ENST00000398495:exon13:c.G1492C:p.A498P;ENSG00000141644:ENST00000585672:exon13:c.G1435C:p.A479P;ENSG00000141644:ENST00000587605:exon12:c.G1279C:p.A427P;	0.559028794354841	0.728
18	47799325	C	T	18	50272955	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon12:c.G1279A:p.A427T;MBD1:NM_001204151:exon11:c.G1378A:p.A460T;MBD1:NM_001204137:exon15:c.G1660A:p.A554T;MBD1:NM_015845:exon12:c.G1378A:p.A460T;MBD1:NM_001204142:exon13:c.G1447A:p.A483T;MBD1:NM_001204143:exon12:c.G1279A:p.A427T;MBD1:NM_001204138:exon15:c.G1657A:p.A553T;MBD1:NM_015846:exon14:c.G1585A:p.A529T;MBD1:NM_001204140:exon14:c.G1492A:p.A498T;MBD1:NM_001204139:exon14:c.G1585A:p.A529T;MBD1:NM_015844:exon13:c.G1417A:p.A473T;MBD1:NM_001204136:exon14:c.G1585A:p.A529T;MBD1:NM_015847:exon13:c.G1438A:p.A480T;MBD1:NM_001204141:exon13:c.G1435A:p.A479T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon15:c.G1660A:p.A554T;ENSG00000141644:ENST00000424334:exon15:c.G1738A:p.A580T;ENSG00000141644:ENST00000591535:exon11:c.G1378A:p.A460T;ENSG00000141644:ENST00000398493:exon13:c.G1417A:p.A473T;ENSG00000141644:ENST00000398488:exon11:c.G1279A:p.A427T;ENSG00000141644:ENST00000353909:exon13:c.G1438A:p.A480T;ENSG00000141644:ENST00000339998:exon13:c.G1447A:p.A483T;ENSG00000141644:ENST00000589541:exon5:c.G490A:p.A164T;ENSG00000141644:ENST00000591416:exon14:c.G1585A:p.A529T;ENSG00000141644:ENST00000269471:exon12:c.G1378A:p.A460T;ENSG00000141644:ENST00000457839:exon15:c.G1660A:p.A554T;ENSG00000141644:ENST00000590208:exon14:c.G1585A:p.A529T;ENSG00000141644:ENST00000347968:exon13:c.G1417A:p.A473T;ENSG00000141644:ENST00000382948:exon14:c.G1585A:p.A529T;ENSG00000141644:ENST00000588937:exon11:c.G1378A:p.A460T;ENSG00000141644:ENST00000349085:exon12:c.G1279A:p.A427T;ENSG00000141644:ENST00000436910:exon12:c.G1378A:p.A460T;ENSG00000141644:ENST00000269468:exon14:c.G1585A:p.A529T;ENSG00000141644:ENST00000398495:exon13:c.G1492A:p.A498T;ENSG00000141644:ENST00000585672:exon13:c.G1435A:p.A479T;ENSG00000141644:ENST00000587605:exon12:c.G1279A:p.A427T;	0.0312623388078215	0.202
18	47799326	C	A	18	50272956	y	y	splicing	MBD1(NM_001204139:exon15:c.1585-1G>T;NM_001204141:exon14:c.1435-1G>T;NM_002384:exon13:c.1279-1G>T;NM_015847:exon14:c.1438-1G>T;NM_015846:exon15:c.1585-1G>T;NM_015845:exon13:c.1378-1G>T;NM_001204136:exon15:c.1585-1G>T;NM_015844:exon14:c.1417-1G>T;NM_001204143:exon13:c.1279-1G>T;NM_001204142:exon14:c.1447-1G>T;NM_001204140:exon15:c.1492-1G>T;NM_001204138:exon16:c.1657-1G>T;NM_001204137:exon16:c.1660-1G>T;NM_001204151:exon12:c.1378-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1435-1G>T;ENST00000592060:exon10:c.981-1G>T;ENST00000382948:exon15:c.1585-1G>T;ENST00000353909:exon14:c.1438-1G>T;ENST00000591416:exon15:c.1585-1G>T;ENST00000349085:exon13:c.1279-1G>T;ENST00000436910:exon13:c.1378-1G>T;ENST00000347968:exon14:c.1417-1G>T;ENST00000269468:exon15:c.1585-1G>T;ENST00000269471:exon13:c.1378-1G>T;ENST00000339998:exon14:c.1447-1G>T;ENST00000590208:exon15:c.1585-1G>T;ENST00000587605:exon13:c.1279-1G>T;ENST00000588937:exon12:c.1378-1G>T;ENST00000424334:exon16:c.1738-1G>T;ENST00000585595:exon16:c.1660-1G>T;ENST00000589541:exon6:c.490-1G>T;ENST00000398495:exon14:c.1492-1G>T;ENST00000457839:exon16:c.1660-1G>T;ENST00000398493:exon14:c.1417-1G>T;ENST00000591535:exon12:c.1378-1G>T;ENST00000398488:exon12:c.1279-1G>T)	.	.	0.999954401362567	0.82
18	47799326	C	G	18	50272956	y	y	splicing	MBD1(NM_001204139:exon15:c.1585-1G>C;NM_001204141:exon14:c.1435-1G>C;NM_002384:exon13:c.1279-1G>C;NM_015847:exon14:c.1438-1G>C;NM_015846:exon15:c.1585-1G>C;NM_015845:exon13:c.1378-1G>C;NM_001204136:exon15:c.1585-1G>C;NM_015844:exon14:c.1417-1G>C;NM_001204143:exon13:c.1279-1G>C;NM_001204142:exon14:c.1447-1G>C;NM_001204140:exon15:c.1492-1G>C;NM_001204138:exon16:c.1657-1G>C;NM_001204137:exon16:c.1660-1G>C;NM_001204151:exon12:c.1378-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1435-1G>C;ENST00000592060:exon10:c.981-1G>C;ENST00000382948:exon15:c.1585-1G>C;ENST00000353909:exon14:c.1438-1G>C;ENST00000591416:exon15:c.1585-1G>C;ENST00000349085:exon13:c.1279-1G>C;ENST00000436910:exon13:c.1378-1G>C;ENST00000347968:exon14:c.1417-1G>C;ENST00000269468:exon15:c.1585-1G>C;ENST00000269471:exon13:c.1378-1G>C;ENST00000339998:exon14:c.1447-1G>C;ENST00000590208:exon15:c.1585-1G>C;ENST00000587605:exon13:c.1279-1G>C;ENST00000588937:exon12:c.1378-1G>C;ENST00000424334:exon16:c.1738-1G>C;ENST00000585595:exon16:c.1660-1G>C;ENST00000589541:exon6:c.490-1G>C;ENST00000398495:exon14:c.1492-1G>C;ENST00000457839:exon16:c.1660-1G>C;ENST00000398493:exon14:c.1417-1G>C;ENST00000591535:exon12:c.1378-1G>C;ENST00000398488:exon12:c.1279-1G>C)	.	.	0.999954401362567	0.814
18	47799326	C	T	18	50272956	y	y	splicing	MBD1(NM_001204139:exon15:c.1585-1G>A;NM_001204141:exon14:c.1435-1G>A;NM_002384:exon13:c.1279-1G>A;NM_015847:exon14:c.1438-1G>A;NM_015846:exon15:c.1585-1G>A;NM_015845:exon13:c.1378-1G>A;NM_001204136:exon15:c.1585-1G>A;NM_015844:exon14:c.1417-1G>A;NM_001204143:exon13:c.1279-1G>A;NM_001204142:exon14:c.1447-1G>A;NM_001204140:exon15:c.1492-1G>A;NM_001204138:exon16:c.1657-1G>A;NM_001204137:exon16:c.1660-1G>A;NM_001204151:exon12:c.1378-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1435-1G>A;ENST00000592060:exon10:c.981-1G>A;ENST00000382948:exon15:c.1585-1G>A;ENST00000353909:exon14:c.1438-1G>A;ENST00000591416:exon15:c.1585-1G>A;ENST00000349085:exon13:c.1279-1G>A;ENST00000436910:exon13:c.1378-1G>A;ENST00000347968:exon14:c.1417-1G>A;ENST00000269468:exon15:c.1585-1G>A;ENST00000269471:exon13:c.1378-1G>A;ENST00000339998:exon14:c.1447-1G>A;ENST00000590208:exon15:c.1585-1G>A;ENST00000587605:exon13:c.1279-1G>A;ENST00000588937:exon12:c.1378-1G>A;ENST00000424334:exon16:c.1738-1G>A;ENST00000585595:exon16:c.1660-1G>A;ENST00000589541:exon6:c.490-1G>A;ENST00000398495:exon14:c.1492-1G>A;ENST00000457839:exon16:c.1660-1G>A;ENST00000398493:exon14:c.1417-1G>A;ENST00000591535:exon12:c.1378-1G>A;ENST00000398488:exon12:c.1279-1G>A)	.	.	0.999954401362567	0.852
18	47799327	T	A	18	50272957	y	y	splicing	MBD1(NM_001204139:exon15:c.1585-2A>T;NM_001204141:exon14:c.1435-2A>T;NM_002384:exon13:c.1279-2A>T;NM_015847:exon14:c.1438-2A>T;NM_015846:exon15:c.1585-2A>T;NM_015845:exon13:c.1378-2A>T;NM_001204136:exon15:c.1585-2A>T;NM_015844:exon14:c.1417-2A>T;NM_001204143:exon13:c.1279-2A>T;NM_001204142:exon14:c.1447-2A>T;NM_001204140:exon15:c.1492-2A>T;NM_001204138:exon16:c.1657-2A>T;NM_001204137:exon16:c.1660-2A>T;NM_001204151:exon12:c.1378-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1435-2A>T;ENST00000592060:exon10:c.981-2A>T;ENST00000382948:exon15:c.1585-2A>T;ENST00000353909:exon14:c.1438-2A>T;ENST00000591416:exon15:c.1585-2A>T;ENST00000349085:exon13:c.1279-2A>T;ENST00000436910:exon13:c.1378-2A>T;ENST00000347968:exon14:c.1417-2A>T;ENST00000269468:exon15:c.1585-2A>T;ENST00000269471:exon13:c.1378-2A>T;ENST00000339998:exon14:c.1447-2A>T;ENST00000590208:exon15:c.1585-2A>T;ENST00000587605:exon13:c.1279-2A>T;ENST00000588937:exon12:c.1378-2A>T;ENST00000424334:exon16:c.1738-2A>T;ENST00000585595:exon16:c.1660-2A>T;ENST00000589541:exon6:c.490-2A>T;ENST00000398495:exon14:c.1492-2A>T;ENST00000457839:exon16:c.1660-2A>T;ENST00000398493:exon14:c.1417-2A>T;ENST00000591535:exon12:c.1378-2A>T;ENST00000398488:exon12:c.1279-2A>T)	.	.	0.999962958601995	0.794
18	47799327	T	C	18	50272957	y	y	splicing	MBD1(NM_001204139:exon15:c.1585-2A>G;NM_001204141:exon14:c.1435-2A>G;NM_002384:exon13:c.1279-2A>G;NM_015847:exon14:c.1438-2A>G;NM_015846:exon15:c.1585-2A>G;NM_015845:exon13:c.1378-2A>G;NM_001204136:exon15:c.1585-2A>G;NM_015844:exon14:c.1417-2A>G;NM_001204143:exon13:c.1279-2A>G;NM_001204142:exon14:c.1447-2A>G;NM_001204140:exon15:c.1492-2A>G;NM_001204138:exon16:c.1657-2A>G;NM_001204137:exon16:c.1660-2A>G;NM_001204151:exon12:c.1378-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1435-2A>G;ENST00000592060:exon10:c.981-2A>G;ENST00000382948:exon15:c.1585-2A>G;ENST00000353909:exon14:c.1438-2A>G;ENST00000591416:exon15:c.1585-2A>G;ENST00000349085:exon13:c.1279-2A>G;ENST00000436910:exon13:c.1378-2A>G;ENST00000347968:exon14:c.1417-2A>G;ENST00000269468:exon15:c.1585-2A>G;ENST00000269471:exon13:c.1378-2A>G;ENST00000339998:exon14:c.1447-2A>G;ENST00000590208:exon15:c.1585-2A>G;ENST00000587605:exon13:c.1279-2A>G;ENST00000588937:exon12:c.1378-2A>G;ENST00000424334:exon16:c.1738-2A>G;ENST00000585595:exon16:c.1660-2A>G;ENST00000589541:exon6:c.490-2A>G;ENST00000398495:exon14:c.1492-2A>G;ENST00000457839:exon16:c.1660-2A>G;ENST00000398493:exon14:c.1417-2A>G;ENST00000591535:exon12:c.1378-2A>G;ENST00000398488:exon12:c.1279-2A>G)	.	.	0.999980255680118	0.768
18	47799327	T	G	18	50272957	y	y	splicing	MBD1(NM_001204139:exon15:c.1585-2A>C;NM_001204141:exon14:c.1435-2A>C;NM_002384:exon13:c.1279-2A>C;NM_015847:exon14:c.1438-2A>C;NM_015846:exon15:c.1585-2A>C;NM_015845:exon13:c.1378-2A>C;NM_001204136:exon15:c.1585-2A>C;NM_015844:exon14:c.1417-2A>C;NM_001204143:exon13:c.1279-2A>C;NM_001204142:exon14:c.1447-2A>C;NM_001204140:exon15:c.1492-2A>C;NM_001204138:exon16:c.1657-2A>C;NM_001204137:exon16:c.1660-2A>C;NM_001204151:exon12:c.1378-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon14:c.1435-2A>C;ENST00000592060:exon10:c.981-2A>C;ENST00000382948:exon15:c.1585-2A>C;ENST00000353909:exon14:c.1438-2A>C;ENST00000591416:exon15:c.1585-2A>C;ENST00000349085:exon13:c.1279-2A>C;ENST00000436910:exon13:c.1378-2A>C;ENST00000347968:exon14:c.1417-2A>C;ENST00000269468:exon15:c.1585-2A>C;ENST00000269471:exon13:c.1378-2A>C;ENST00000339998:exon14:c.1447-2A>C;ENST00000590208:exon15:c.1585-2A>C;ENST00000587605:exon13:c.1279-2A>C;ENST00000588937:exon12:c.1378-2A>C;ENST00000424334:exon16:c.1738-2A>C;ENST00000585595:exon16:c.1660-2A>C;ENST00000589541:exon6:c.490-2A>C;ENST00000398495:exon14:c.1492-2A>C;ENST00000457839:exon16:c.1660-2A>C;ENST00000398493:exon14:c.1417-2A>C;ENST00000591535:exon12:c.1378-2A>C;ENST00000398488:exon12:c.1279-2A>C)	.	.	0.999980255680118	0.768
18	47799328	G	A	18	50272958	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00179655613935925	0.07
18	47799328	G	C	18	50272958	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999460399137435	0.924
18	47799328	G	T	18	50272958	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.681668077266759	0.596
18	47799329	G	A	18	50272959	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.32319013515342E-5	0.008
18	47799329	G	C	18	50272959	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.0453089080885E-5	0.004
18	47799329	G	T	18	50272959	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.0453089080885E-5	0.006
18	47799330	G	A	18	50272960	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.48438552746224E-5	0.0
18	47799330	G	C	18	50272960	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.51348467313658E-5	0.074
18	47799330	G	T	18	50272960	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.26633926348171E-5	0.078
18	47799331	A	C	18	50272961	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.23435970433584E-4	0.118
18	47799331	A	G	18	50272961	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.03042832142452E-5	0.008
18	47799331	A	T	18	50272961	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.48795097964093E-4	0.098
18	47799332	G	A	18	50272962	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.64275889364053E-5	0.016
18	47799332	G	C	18	50272962	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.41489727021078E-4	0.14
18	47799332	G	T	18	50272962	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.61696627424059E-4	0.118
18	47799333	A	C	18	50272963	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.60893574544641E-5	0.024
18	47799333	A	G	18	50272963	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.34449322054229E-5	0.014
18	47799333	A	T	18	50272963	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.42929203311408E-4	0.194
18	47799334	A	C	18	50272964	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.87672524399277E-4	0.098
18	47799334	A	G	18	50272964	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.13726467067857E-5	0.006
18	47799334	A	T	18	50272964	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.61090959234441E-4	0.11
18	47799335	G	A	18	50272965	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.24480250041332E-5	0.066
18	47799335	G	C	18	50272965	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.997457207283757	0.742
18	47799335	G	T	18	50272965	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.84591960017647E-4	0.05
18	47799336	T	A	18	50272966	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.15587050410097E-5	0.024
18	47799336	T	C	18	50272966	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.92623521636732E-5	0.074
18	47799336	T	G	18	50272966	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.6462153651302E-5	0.052
18	47799337	A	C	18	50272967	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.67395998389424E-5	0.042
18	47799337	A	G	18	50272967	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.80526741652894E-5	0.008
18	47799337	A	T	18	50272967	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.35300469407645E-4	0.104
18	47799696	G	A	18	50273326	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.58850795910495E-4	0.026
18	47799696	G	C	18	50273326	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.86755563111692E-4	0.0
18	47799696	G	T	18	50273326	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.58850795910495E-4	0.002
18	47799697	C	A	18	50273327	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.43033026591818E-4	0.074
18	47799697	C	G	18	50273327	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.36742828518914E-4	0.0
18	47799697	C	T	18	50273327	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.13667523396164E-4	0.002
18	47799698	C	A	18	50273328	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.37863235735929E-4	0.034
18	47799698	C	G	18	50273328	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.19717438879914E-4	0.124
18	47799698	C	T	18	50273328	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.70431439244398E-4	0.002
18	47799699	C	A	18	50273329	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999978546776438	0.998
18	47799699	C	G	18	50273329	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999539023521373	0.92
18	47799699	C	T	18	50273329	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999866353297965	0.994
18	47799700	C	A	18	50273330	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00114593256028909	0.074
18	47799700	C	G	18	50273330	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.91216386672997E-4	0.202
18	47799700	C	T	18	50273330	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.51456688180797E-4	0.182
18	47799701	C	A	18	50273331	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0049908056267737	0.17
18	47799701	C	G	18	50273331	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.384327069073577	0.374
18	47799701	C	T	18	50273331	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.68670393124637E-5	0.096
18	47799702	A	C	18	50273332	y	y	splicing	MBD1(NM_001204139:exon14:c.1584+2T>G;NM_001204141:exon13:c.1434+2T>G;NM_015847:exon13:c.1437+2T>G;NM_015846:exon14:c.1584+2T>G;NM_001204136:exon14:c.1584+2T>G;NM_015844:exon13:c.1416+2T>G;NM_001204140:exon14:c.1491+2T>G;NM_001204138:exon15:c.1656+2T>G;NM_001204137:exon15:c.1659+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1434+2T>G;ENST00000382948:exon14:c.1584+2T>G;ENST00000353909:exon13:c.1437+2T>G;ENST00000591416:exon14:c.1584+2T>G;ENST00000347968:exon13:c.1416+2T>G;ENST00000269468:exon14:c.1584+2T>G;ENST00000590208:exon14:c.1584+2T>G;ENST00000424334:exon15:c.1737+2T>G;ENST00000585595:exon15:c.1659+2T>G;ENST00000589541:exon5:c.489+2T>G;ENST00000398495:exon13:c.1491+2T>G;ENST00000457839:exon15:c.1659+2T>G;ENST00000398493:exon13:c.1416+2T>G)	.	.	0.999988247793601	0.936
18	47799702	A	G	18	50273332	y	y	splicing	MBD1(NM_001204139:exon14:c.1584+2T>C;NM_001204141:exon13:c.1434+2T>C;NM_015847:exon13:c.1437+2T>C;NM_015846:exon14:c.1584+2T>C;NM_001204136:exon14:c.1584+2T>C;NM_015844:exon13:c.1416+2T>C;NM_001204140:exon14:c.1491+2T>C;NM_001204138:exon15:c.1656+2T>C;NM_001204137:exon15:c.1659+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1434+2T>C;ENST00000382948:exon14:c.1584+2T>C;ENST00000353909:exon13:c.1437+2T>C;ENST00000591416:exon14:c.1584+2T>C;ENST00000347968:exon13:c.1416+2T>C;ENST00000269468:exon14:c.1584+2T>C;ENST00000590208:exon14:c.1584+2T>C;ENST00000424334:exon15:c.1737+2T>C;ENST00000585595:exon15:c.1659+2T>C;ENST00000589541:exon5:c.489+2T>C;ENST00000398495:exon13:c.1491+2T>C;ENST00000457839:exon15:c.1659+2T>C;ENST00000398493:exon13:c.1416+2T>C)	.	.	0.99991520749976	0.87
18	47799702	A	T	18	50273332	y	y	splicing	MBD1(NM_001204139:exon14:c.1584+2T>A;NM_001204141:exon13:c.1434+2T>A;NM_015847:exon13:c.1437+2T>A;NM_015846:exon14:c.1584+2T>A;NM_001204136:exon14:c.1584+2T>A;NM_015844:exon13:c.1416+2T>A;NM_001204140:exon14:c.1491+2T>A;NM_001204138:exon15:c.1656+2T>A;NM_001204137:exon15:c.1659+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1434+2T>A;ENST00000382948:exon14:c.1584+2T>A;ENST00000353909:exon13:c.1437+2T>A;ENST00000591416:exon14:c.1584+2T>A;ENST00000347968:exon13:c.1416+2T>A;ENST00000269468:exon14:c.1584+2T>A;ENST00000590208:exon14:c.1584+2T>A;ENST00000424334:exon15:c.1737+2T>A;ENST00000585595:exon15:c.1659+2T>A;ENST00000589541:exon5:c.489+2T>A;ENST00000398495:exon13:c.1491+2T>A;ENST00000457839:exon15:c.1659+2T>A;ENST00000398493:exon13:c.1416+2T>A)	.	.	0.999988247793601	0.936
18	47799703	C	A	18	50273333	y	y	splicing	MBD1(NM_001204139:exon14:c.1584+1G>T;NM_001204141:exon13:c.1434+1G>T;NM_015847:exon13:c.1437+1G>T;NM_015846:exon14:c.1584+1G>T;NM_001204136:exon14:c.1584+1G>T;NM_015844:exon13:c.1416+1G>T;NM_001204140:exon14:c.1491+1G>T;NM_001204138:exon15:c.1656+1G>T;NM_001204137:exon15:c.1659+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1434+1G>T;ENST00000382948:exon14:c.1584+1G>T;ENST00000353909:exon13:c.1437+1G>T;ENST00000591416:exon14:c.1584+1G>T;ENST00000347968:exon13:c.1416+1G>T;ENST00000269468:exon14:c.1584+1G>T;ENST00000590208:exon14:c.1584+1G>T;ENST00000424334:exon15:c.1737+1G>T;ENST00000585595:exon15:c.1659+1G>T;ENST00000589541:exon5:c.489+1G>T;ENST00000398495:exon13:c.1491+1G>T;ENST00000457839:exon15:c.1659+1G>T;ENST00000398493:exon13:c.1416+1G>T)	.	.	0.999986675681007	0.944
18	47799703	C	G	18	50273333	y	y	splicing	MBD1(NM_001204139:exon14:c.1584+1G>C;NM_001204141:exon13:c.1434+1G>C;NM_015847:exon13:c.1437+1G>C;NM_015846:exon14:c.1584+1G>C;NM_001204136:exon14:c.1584+1G>C;NM_015844:exon13:c.1416+1G>C;NM_001204140:exon14:c.1491+1G>C;NM_001204138:exon15:c.1656+1G>C;NM_001204137:exon15:c.1659+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1434+1G>C;ENST00000382948:exon14:c.1584+1G>C;ENST00000353909:exon13:c.1437+1G>C;ENST00000591416:exon14:c.1584+1G>C;ENST00000347968:exon13:c.1416+1G>C;ENST00000269468:exon14:c.1584+1G>C;ENST00000590208:exon14:c.1584+1G>C;ENST00000424334:exon15:c.1737+1G>C;ENST00000585595:exon15:c.1659+1G>C;ENST00000589541:exon5:c.489+1G>C;ENST00000398495:exon13:c.1491+1G>C;ENST00000457839:exon15:c.1659+1G>C;ENST00000398493:exon13:c.1416+1G>C)	.	.	0.999986675681007	0.944
18	47799703	C	T	18	50273333	y	y	splicing	MBD1(NM_001204139:exon14:c.1584+1G>A;NM_001204141:exon13:c.1434+1G>A;NM_015847:exon13:c.1437+1G>A;NM_015846:exon14:c.1584+1G>A;NM_001204136:exon14:c.1584+1G>A;NM_015844:exon13:c.1416+1G>A;NM_001204140:exon14:c.1491+1G>A;NM_001204138:exon15:c.1656+1G>A;NM_001204137:exon15:c.1659+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1434+1G>A;ENST00000382948:exon14:c.1584+1G>A;ENST00000353909:exon13:c.1437+1G>A;ENST00000591416:exon14:c.1584+1G>A;ENST00000347968:exon13:c.1416+1G>A;ENST00000269468:exon14:c.1584+1G>A;ENST00000590208:exon14:c.1584+1G>A;ENST00000424334:exon15:c.1737+1G>A;ENST00000585595:exon15:c.1659+1G>A;ENST00000589541:exon5:c.489+1G>A;ENST00000398495:exon13:c.1491+1G>A;ENST00000457839:exon15:c.1659+1G>A;ENST00000398493:exon13:c.1416+1G>A)	.	.	0.999986675681007	0.944
18	47799704	C	A	18	50273334	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.G1659T:p.K553N;MBD1:NM_001204138:exon14:c.G1656T:p.K552N;MBD1:NM_015846:exon13:c.G1584T:p.K528N;MBD1:NM_001204140:exon13:c.G1491T:p.K497N;MBD1:NM_001204139:exon13:c.G1584T:p.K528N;MBD1:NM_015844:exon12:c.G1416T:p.K472N;MBD1:NM_001204136:exon13:c.G1584T:p.K528N;MBD1:NM_015847:exon12:c.G1437T:p.K479N;MBD1:NM_001204141:exon12:c.G1434T:p.K478N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.G1659T:p.K553N;ENSG00000141644:ENST00000424334:exon14:c.G1737T:p.K579N;ENSG00000141644:ENST00000398493:exon12:c.G1416T:p.K472N;ENSG00000141644:ENST00000353909:exon12:c.G1437T:p.K479N;ENSG00000141644:ENST00000589541:exon4:c.G489T:p.K163N;ENSG00000141644:ENST00000591416:exon13:c.G1584T:p.K528N;ENSG00000141644:ENST00000457839:exon14:c.G1659T:p.K553N;ENSG00000141644:ENST00000590208:exon13:c.G1584T:p.K528N;ENSG00000141644:ENST00000347968:exon12:c.G1416T:p.K472N;ENSG00000141644:ENST00000382948:exon13:c.G1584T:p.K528N;ENSG00000141644:ENST00000269468:exon13:c.G1584T:p.K528N;ENSG00000141644:ENST00000398495:exon12:c.G1491T:p.K497N;ENSG00000141644:ENST00000585672:exon12:c.G1434T:p.K478N;	0.999989622619037	0.994
18	47799704	C	G	18	50273334	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.G1659C:p.K553N;MBD1:NM_001204138:exon14:c.G1656C:p.K552N;MBD1:NM_015846:exon13:c.G1584C:p.K528N;MBD1:NM_001204140:exon13:c.G1491C:p.K497N;MBD1:NM_001204139:exon13:c.G1584C:p.K528N;MBD1:NM_015844:exon12:c.G1416C:p.K472N;MBD1:NM_001204136:exon13:c.G1584C:p.K528N;MBD1:NM_015847:exon12:c.G1437C:p.K479N;MBD1:NM_001204141:exon12:c.G1434C:p.K478N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.G1659C:p.K553N;ENSG00000141644:ENST00000424334:exon14:c.G1737C:p.K579N;ENSG00000141644:ENST00000398493:exon12:c.G1416C:p.K472N;ENSG00000141644:ENST00000353909:exon12:c.G1437C:p.K479N;ENSG00000141644:ENST00000589541:exon4:c.G489C:p.K163N;ENSG00000141644:ENST00000591416:exon13:c.G1584C:p.K528N;ENSG00000141644:ENST00000457839:exon14:c.G1659C:p.K553N;ENSG00000141644:ENST00000590208:exon13:c.G1584C:p.K528N;ENSG00000141644:ENST00000347968:exon12:c.G1416C:p.K472N;ENSG00000141644:ENST00000382948:exon13:c.G1584C:p.K528N;ENSG00000141644:ENST00000269468:exon13:c.G1584C:p.K528N;ENSG00000141644:ENST00000398495:exon12:c.G1491C:p.K497N;ENSG00000141644:ENST00000585672:exon12:c.G1434C:p.K478N;	0.999998312535482	1.0
18	47799704	C	T	18	50273334	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_001204137:exon14:c.G1659A:p.K553K;MBD1:NM_001204138:exon14:c.G1656A:p.K552K;MBD1:NM_015846:exon13:c.G1584A:p.K528K;MBD1:NM_001204140:exon13:c.G1491A:p.K497K;MBD1:NM_001204139:exon13:c.G1584A:p.K528K;MBD1:NM_015844:exon12:c.G1416A:p.K472K;MBD1:NM_001204136:exon13:c.G1584A:p.K528K;MBD1:NM_015847:exon12:c.G1437A:p.K479K;MBD1:NM_001204141:exon12:c.G1434A:p.K478K;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.G1659A:p.K553K;ENSG00000141644:ENST00000424334:exon14:c.G1737A:p.K579K;ENSG00000141644:ENST00000398493:exon12:c.G1416A:p.K472K;ENSG00000141644:ENST00000353909:exon12:c.G1437A:p.K479K;ENSG00000141644:ENST00000589541:exon4:c.G489A:p.K163K;ENSG00000141644:ENST00000591416:exon13:c.G1584A:p.K528K;ENSG00000141644:ENST00000457839:exon14:c.G1659A:p.K553K;ENSG00000141644:ENST00000590208:exon13:c.G1584A:p.K528K;ENSG00000141644:ENST00000347968:exon12:c.G1416A:p.K472K;ENSG00000141644:ENST00000382948:exon13:c.G1584A:p.K528K;ENSG00000141644:ENST00000269468:exon13:c.G1584A:p.K528K;ENSG00000141644:ENST00000398495:exon12:c.G1491A:p.K497K;ENSG00000141644:ENST00000585672:exon12:c.G1434A:p.K478K;	0.999989601988696	0.99
18	47799705	T	A	18	50273335	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.A1658T:p.K553M;MBD1:NM_001204138:exon14:c.A1655T:p.K552M;MBD1:NM_015846:exon13:c.A1583T:p.K528M;MBD1:NM_001204140:exon13:c.A1490T:p.K497M;MBD1:NM_001204139:exon13:c.A1583T:p.K528M;MBD1:NM_015844:exon12:c.A1415T:p.K472M;MBD1:NM_001204136:exon13:c.A1583T:p.K528M;MBD1:NM_015847:exon12:c.A1436T:p.K479M;MBD1:NM_001204141:exon12:c.A1433T:p.K478M;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.A1658T:p.K553M;ENSG00000141644:ENST00000424334:exon14:c.A1736T:p.K579M;ENSG00000141644:ENST00000398493:exon12:c.A1415T:p.K472M;ENSG00000141644:ENST00000353909:exon12:c.A1436T:p.K479M;ENSG00000141644:ENST00000589541:exon4:c.A488T:p.K163M;ENSG00000141644:ENST00000591416:exon13:c.A1583T:p.K528M;ENSG00000141644:ENST00000457839:exon14:c.A1658T:p.K553M;ENSG00000141644:ENST00000590208:exon13:c.A1583T:p.K528M;ENSG00000141644:ENST00000347968:exon12:c.A1415T:p.K472M;ENSG00000141644:ENST00000382948:exon13:c.A1583T:p.K528M;ENSG00000141644:ENST00000269468:exon13:c.A1583T:p.K528M;ENSG00000141644:ENST00000398495:exon12:c.A1490T:p.K497M;ENSG00000141644:ENST00000585672:exon12:c.A1433T:p.K478M;	0.999936083846172	0.982
18	47799705	T	C	18	50273335	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.A1658G:p.K553R;MBD1:NM_001204138:exon14:c.A1655G:p.K552R;MBD1:NM_015846:exon13:c.A1583G:p.K528R;MBD1:NM_001204140:exon13:c.A1490G:p.K497R;MBD1:NM_001204139:exon13:c.A1583G:p.K528R;MBD1:NM_015844:exon12:c.A1415G:p.K472R;MBD1:NM_001204136:exon13:c.A1583G:p.K528R;MBD1:NM_015847:exon12:c.A1436G:p.K479R;MBD1:NM_001204141:exon12:c.A1433G:p.K478R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.A1658G:p.K553R;ENSG00000141644:ENST00000424334:exon14:c.A1736G:p.K579R;ENSG00000141644:ENST00000398493:exon12:c.A1415G:p.K472R;ENSG00000141644:ENST00000353909:exon12:c.A1436G:p.K479R;ENSG00000141644:ENST00000589541:exon4:c.A488G:p.K163R;ENSG00000141644:ENST00000591416:exon13:c.A1583G:p.K528R;ENSG00000141644:ENST00000457839:exon14:c.A1658G:p.K553R;ENSG00000141644:ENST00000590208:exon13:c.A1583G:p.K528R;ENSG00000141644:ENST00000347968:exon12:c.A1415G:p.K472R;ENSG00000141644:ENST00000382948:exon13:c.A1583G:p.K528R;ENSG00000141644:ENST00000269468:exon13:c.A1583G:p.K528R;ENSG00000141644:ENST00000398495:exon12:c.A1490G:p.K497R;ENSG00000141644:ENST00000585672:exon12:c.A1433G:p.K478R;	0.999966707775104	0.992
18	47799705	T	G	18	50273335	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.A1658C:p.K553T;MBD1:NM_001204138:exon14:c.A1655C:p.K552T;MBD1:NM_015846:exon13:c.A1583C:p.K528T;MBD1:NM_001204140:exon13:c.A1490C:p.K497T;MBD1:NM_001204139:exon13:c.A1583C:p.K528T;MBD1:NM_015844:exon12:c.A1415C:p.K472T;MBD1:NM_001204136:exon13:c.A1583C:p.K528T;MBD1:NM_015847:exon12:c.A1436C:p.K479T;MBD1:NM_001204141:exon12:c.A1433C:p.K478T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.A1658C:p.K553T;ENSG00000141644:ENST00000424334:exon14:c.A1736C:p.K579T;ENSG00000141644:ENST00000398493:exon12:c.A1415C:p.K472T;ENSG00000141644:ENST00000353909:exon12:c.A1436C:p.K479T;ENSG00000141644:ENST00000589541:exon4:c.A488C:p.K163T;ENSG00000141644:ENST00000591416:exon13:c.A1583C:p.K528T;ENSG00000141644:ENST00000457839:exon14:c.A1658C:p.K553T;ENSG00000141644:ENST00000590208:exon13:c.A1583C:p.K528T;ENSG00000141644:ENST00000347968:exon12:c.A1415C:p.K472T;ENSG00000141644:ENST00000382948:exon13:c.A1583C:p.K528T;ENSG00000141644:ENST00000269468:exon13:c.A1583C:p.K528T;ENSG00000141644:ENST00000398495:exon12:c.A1490C:p.K497T;ENSG00000141644:ENST00000585672:exon12:c.A1433C:p.K478T;	0.999804709792596	0.982
18	47799706	T	A	18	50273336	y	y	exonic	MBD1	stopgain SNV	MBD1:NM_001204137:exon14:c.A1657T:p.K553X;MBD1:NM_001204138:exon14:c.A1654T:p.K552X;MBD1:NM_015846:exon13:c.A1582T:p.K528X;MBD1:NM_001204140:exon13:c.A1489T:p.K497X;MBD1:NM_001204139:exon13:c.A1582T:p.K528X;MBD1:NM_015844:exon12:c.A1414T:p.K472X;MBD1:NM_001204136:exon13:c.A1582T:p.K528X;MBD1:NM_015847:exon12:c.A1435T:p.K479X;MBD1:NM_001204141:exon12:c.A1432T:p.K478X;	exonic	ENSG00000141644	stopgain SNV	ENSG00000141644:ENST00000585595:exon14:c.A1657T:p.K553X;ENSG00000141644:ENST00000424334:exon14:c.A1735T:p.K579X;ENSG00000141644:ENST00000398493:exon12:c.A1414T:p.K472X;ENSG00000141644:ENST00000353909:exon12:c.A1435T:p.K479X;ENSG00000141644:ENST00000589541:exon4:c.A487T:p.K163X;ENSG00000141644:ENST00000591416:exon13:c.A1582T:p.K528X;ENSG00000141644:ENST00000457839:exon14:c.A1657T:p.K553X;ENSG00000141644:ENST00000590208:exon13:c.A1582T:p.K528X;ENSG00000141644:ENST00000347968:exon12:c.A1414T:p.K472X;ENSG00000141644:ENST00000382948:exon13:c.A1582T:p.K528X;ENSG00000141644:ENST00000269468:exon13:c.A1582T:p.K528X;ENSG00000141644:ENST00000398495:exon12:c.A1489T:p.K497X;ENSG00000141644:ENST00000585672:exon12:c.A1432T:p.K478X;	0.996872498555209	0.816
18	47799706	T	C	18	50273336	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.A1657G:p.K553E;MBD1:NM_001204138:exon14:c.A1654G:p.K552E;MBD1:NM_015846:exon13:c.A1582G:p.K528E;MBD1:NM_001204140:exon13:c.A1489G:p.K497E;MBD1:NM_001204139:exon13:c.A1582G:p.K528E;MBD1:NM_015844:exon12:c.A1414G:p.K472E;MBD1:NM_001204136:exon13:c.A1582G:p.K528E;MBD1:NM_015847:exon12:c.A1435G:p.K479E;MBD1:NM_001204141:exon12:c.A1432G:p.K478E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.A1657G:p.K553E;ENSG00000141644:ENST00000424334:exon14:c.A1735G:p.K579E;ENSG00000141644:ENST00000398493:exon12:c.A1414G:p.K472E;ENSG00000141644:ENST00000353909:exon12:c.A1435G:p.K479E;ENSG00000141644:ENST00000589541:exon4:c.A487G:p.K163E;ENSG00000141644:ENST00000591416:exon13:c.A1582G:p.K528E;ENSG00000141644:ENST00000457839:exon14:c.A1657G:p.K553E;ENSG00000141644:ENST00000590208:exon13:c.A1582G:p.K528E;ENSG00000141644:ENST00000347968:exon12:c.A1414G:p.K472E;ENSG00000141644:ENST00000382948:exon13:c.A1582G:p.K528E;ENSG00000141644:ENST00000269468:exon13:c.A1582G:p.K528E;ENSG00000141644:ENST00000398495:exon12:c.A1489G:p.K497E;ENSG00000141644:ENST00000585672:exon12:c.A1432G:p.K478E;	0.761406006979231	0.486
18	47799706	T	G	18	50273336	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.A1657C:p.K553Q;MBD1:NM_001204138:exon14:c.A1654C:p.K552Q;MBD1:NM_015846:exon13:c.A1582C:p.K528Q;MBD1:NM_001204140:exon13:c.A1489C:p.K497Q;MBD1:NM_001204139:exon13:c.A1582C:p.K528Q;MBD1:NM_015844:exon12:c.A1414C:p.K472Q;MBD1:NM_001204136:exon13:c.A1582C:p.K528Q;MBD1:NM_015847:exon12:c.A1435C:p.K479Q;MBD1:NM_001204141:exon12:c.A1432C:p.K478Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.A1657C:p.K553Q;ENSG00000141644:ENST00000424334:exon14:c.A1735C:p.K579Q;ENSG00000141644:ENST00000398493:exon12:c.A1414C:p.K472Q;ENSG00000141644:ENST00000353909:exon12:c.A1435C:p.K479Q;ENSG00000141644:ENST00000589541:exon4:c.A487C:p.K163Q;ENSG00000141644:ENST00000591416:exon13:c.A1582C:p.K528Q;ENSG00000141644:ENST00000457839:exon14:c.A1657C:p.K553Q;ENSG00000141644:ENST00000590208:exon13:c.A1582C:p.K528Q;ENSG00000141644:ENST00000347968:exon12:c.A1414C:p.K472Q;ENSG00000141644:ENST00000382948:exon13:c.A1582C:p.K528Q;ENSG00000141644:ENST00000269468:exon13:c.A1582C:p.K528Q;ENSG00000141644:ENST00000398495:exon12:c.A1489C:p.K497Q;ENSG00000141644:ENST00000585672:exon12:c.A1432C:p.K478Q;	0.727324104693906	0.654
18	47799840	T	A	18	50273470	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.A1523T:p.E508V;MBD1:NM_001204138:exon14:c.A1520T:p.E507V;MBD1:NM_015846:exon13:c.A1448T:p.E483V;MBD1:NM_001204140:exon13:c.A1355T:p.E452V;MBD1:NM_001204139:exon13:c.A1448T:p.E483V;MBD1:NM_015844:exon12:c.A1280T:p.E427V;MBD1:NM_001204136:exon13:c.A1448T:p.E483V;MBD1:NM_015847:exon12:c.A1301T:p.E434V;MBD1:NM_001204141:exon12:c.A1298T:p.E433V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.A1523T:p.E508V;ENSG00000141644:ENST00000424334:exon14:c.A1601T:p.E534V;ENSG00000141644:ENST00000398493:exon12:c.A1280T:p.E427V;ENSG00000141644:ENST00000353909:exon12:c.A1301T:p.E434V;ENSG00000141644:ENST00000591416:exon13:c.A1448T:p.E483V;ENSG00000141644:ENST00000457839:exon14:c.A1523T:p.E508V;ENSG00000141644:ENST00000590208:exon13:c.A1448T:p.E483V;ENSG00000141644:ENST00000347968:exon12:c.A1280T:p.E427V;ENSG00000141644:ENST00000382948:exon13:c.A1448T:p.E483V;ENSG00000141644:ENST00000269468:exon13:c.A1448T:p.E483V;ENSG00000141644:ENST00000398495:exon12:c.A1355T:p.E452V;ENSG00000141644:ENST00000585672:exon12:c.A1298T:p.E433V;	1.32348128560905E-4	0.044
18	47799840	T	C	18	50273470	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.A1523G:p.E508G;MBD1:NM_001204138:exon14:c.A1520G:p.E507G;MBD1:NM_015846:exon13:c.A1448G:p.E483G;MBD1:NM_001204140:exon13:c.A1355G:p.E452G;MBD1:NM_001204139:exon13:c.A1448G:p.E483G;MBD1:NM_015844:exon12:c.A1280G:p.E427G;MBD1:NM_001204136:exon13:c.A1448G:p.E483G;MBD1:NM_015847:exon12:c.A1301G:p.E434G;MBD1:NM_001204141:exon12:c.A1298G:p.E433G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.A1523G:p.E508G;ENSG00000141644:ENST00000424334:exon14:c.A1601G:p.E534G;ENSG00000141644:ENST00000398493:exon12:c.A1280G:p.E427G;ENSG00000141644:ENST00000353909:exon12:c.A1301G:p.E434G;ENSG00000141644:ENST00000591416:exon13:c.A1448G:p.E483G;ENSG00000141644:ENST00000457839:exon14:c.A1523G:p.E508G;ENSG00000141644:ENST00000590208:exon13:c.A1448G:p.E483G;ENSG00000141644:ENST00000347968:exon12:c.A1280G:p.E427G;ENSG00000141644:ENST00000382948:exon13:c.A1448G:p.E483G;ENSG00000141644:ENST00000269468:exon13:c.A1448G:p.E483G;ENSG00000141644:ENST00000398495:exon12:c.A1355G:p.E452G;ENSG00000141644:ENST00000585672:exon12:c.A1298G:p.E433G;	1.53950388414994E-4	0.012
18	47799840	T	G	18	50273470	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.A1523C:p.E508A;MBD1:NM_001204138:exon14:c.A1520C:p.E507A;MBD1:NM_015846:exon13:c.A1448C:p.E483A;MBD1:NM_001204140:exon13:c.A1355C:p.E452A;MBD1:NM_001204139:exon13:c.A1448C:p.E483A;MBD1:NM_015844:exon12:c.A1280C:p.E427A;MBD1:NM_001204136:exon13:c.A1448C:p.E483A;MBD1:NM_015847:exon12:c.A1301C:p.E434A;MBD1:NM_001204141:exon12:c.A1298C:p.E433A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.A1523C:p.E508A;ENSG00000141644:ENST00000424334:exon14:c.A1601C:p.E534A;ENSG00000141644:ENST00000398493:exon12:c.A1280C:p.E427A;ENSG00000141644:ENST00000353909:exon12:c.A1301C:p.E434A;ENSG00000141644:ENST00000591416:exon13:c.A1448C:p.E483A;ENSG00000141644:ENST00000457839:exon14:c.A1523C:p.E508A;ENSG00000141644:ENST00000590208:exon13:c.A1448C:p.E483A;ENSG00000141644:ENST00000347968:exon12:c.A1280C:p.E427A;ENSG00000141644:ENST00000382948:exon13:c.A1448C:p.E483A;ENSG00000141644:ENST00000269468:exon13:c.A1448C:p.E483A;ENSG00000141644:ENST00000398495:exon12:c.A1355C:p.E452A;ENSG00000141644:ENST00000585672:exon12:c.A1298C:p.E433A;	2.85040904488552E-4	0.022
18	47799841	C	A	18	50273471	y	y	exonic	MBD1	stopgain SNV	MBD1:NM_001204137:exon14:c.G1522T:p.E508X;MBD1:NM_001204138:exon14:c.G1519T:p.E507X;MBD1:NM_015846:exon13:c.G1447T:p.E483X;MBD1:NM_001204140:exon13:c.G1354T:p.E452X;MBD1:NM_001204139:exon13:c.G1447T:p.E483X;MBD1:NM_015844:exon12:c.G1279T:p.E427X;MBD1:NM_001204136:exon13:c.G1447T:p.E483X;MBD1:NM_015847:exon12:c.G1300T:p.E434X;MBD1:NM_001204141:exon12:c.G1297T:p.E433X;	exonic	ENSG00000141644	stopgain SNV	ENSG00000141644:ENST00000585595:exon14:c.G1522T:p.E508X;ENSG00000141644:ENST00000424334:exon14:c.G1600T:p.E534X;ENSG00000141644:ENST00000398493:exon12:c.G1279T:p.E427X;ENSG00000141644:ENST00000353909:exon12:c.G1300T:p.E434X;ENSG00000141644:ENST00000591416:exon13:c.G1447T:p.E483X;ENSG00000141644:ENST00000457839:exon14:c.G1522T:p.E508X;ENSG00000141644:ENST00000590208:exon13:c.G1447T:p.E483X;ENSG00000141644:ENST00000347968:exon12:c.G1279T:p.E427X;ENSG00000141644:ENST00000382948:exon13:c.G1447T:p.E483X;ENSG00000141644:ENST00000269468:exon13:c.G1447T:p.E483X;ENSG00000141644:ENST00000398495:exon12:c.G1354T:p.E452X;ENSG00000141644:ENST00000585672:exon12:c.G1297T:p.E433X;	0.999482894663873	0.912
18	47799841	C	G	18	50273471	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.G1522C:p.E508Q;MBD1:NM_001204138:exon14:c.G1519C:p.E507Q;MBD1:NM_015846:exon13:c.G1447C:p.E483Q;MBD1:NM_001204140:exon13:c.G1354C:p.E452Q;MBD1:NM_001204139:exon13:c.G1447C:p.E483Q;MBD1:NM_015844:exon12:c.G1279C:p.E427Q;MBD1:NM_001204136:exon13:c.G1447C:p.E483Q;MBD1:NM_015847:exon12:c.G1300C:p.E434Q;MBD1:NM_001204141:exon12:c.G1297C:p.E433Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.G1522C:p.E508Q;ENSG00000141644:ENST00000424334:exon14:c.G1600C:p.E534Q;ENSG00000141644:ENST00000398493:exon12:c.G1279C:p.E427Q;ENSG00000141644:ENST00000353909:exon12:c.G1300C:p.E434Q;ENSG00000141644:ENST00000591416:exon13:c.G1447C:p.E483Q;ENSG00000141644:ENST00000457839:exon14:c.G1522C:p.E508Q;ENSG00000141644:ENST00000590208:exon13:c.G1447C:p.E483Q;ENSG00000141644:ENST00000347968:exon12:c.G1279C:p.E427Q;ENSG00000141644:ENST00000382948:exon13:c.G1447C:p.E483Q;ENSG00000141644:ENST00000269468:exon13:c.G1447C:p.E483Q;ENSG00000141644:ENST00000398495:exon12:c.G1354C:p.E452Q;ENSG00000141644:ENST00000585672:exon12:c.G1297C:p.E433Q;	0.967489347872837	0.77
18	47799841	C	T	18	50273471	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon14:c.G1522A:p.E508K;MBD1:NM_001204138:exon14:c.G1519A:p.E507K;MBD1:NM_015846:exon13:c.G1447A:p.E483K;MBD1:NM_001204140:exon13:c.G1354A:p.E452K;MBD1:NM_001204139:exon13:c.G1447A:p.E483K;MBD1:NM_015844:exon12:c.G1279A:p.E427K;MBD1:NM_001204136:exon13:c.G1447A:p.E483K;MBD1:NM_015847:exon12:c.G1300A:p.E434K;MBD1:NM_001204141:exon12:c.G1297A:p.E433K;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon14:c.G1522A:p.E508K;ENSG00000141644:ENST00000424334:exon14:c.G1600A:p.E534K;ENSG00000141644:ENST00000398493:exon12:c.G1279A:p.E427K;ENSG00000141644:ENST00000353909:exon12:c.G1300A:p.E434K;ENSG00000141644:ENST00000591416:exon13:c.G1447A:p.E483K;ENSG00000141644:ENST00000457839:exon14:c.G1522A:p.E508K;ENSG00000141644:ENST00000590208:exon13:c.G1447A:p.E483K;ENSG00000141644:ENST00000347968:exon12:c.G1279A:p.E427K;ENSG00000141644:ENST00000382948:exon13:c.G1447A:p.E483K;ENSG00000141644:ENST00000269468:exon13:c.G1447A:p.E483K;ENSG00000141644:ENST00000398495:exon12:c.G1354A:p.E452K;ENSG00000141644:ENST00000585672:exon12:c.G1297A:p.E433K;	0.465529834353511	0.47
18	47799842	C	A	18	50273472	y	y	splicing	MBD1(NM_001204139:exon14:c.1447-1G>T;NM_001204141:exon13:c.1297-1G>T;NM_015847:exon13:c.1300-1G>T;NM_015846:exon14:c.1447-1G>T;NM_001204136:exon14:c.1447-1G>T;NM_015844:exon13:c.1279-1G>T;NM_001204140:exon14:c.1354-1G>T;NM_001204138:exon15:c.1519-1G>T;NM_001204137:exon15:c.1522-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1297-1G>T;ENST00000382948:exon14:c.1447-1G>T;ENST00000353909:exon13:c.1300-1G>T;ENST00000591416:exon14:c.1447-1G>T;ENST00000347968:exon13:c.1279-1G>T;ENST00000269468:exon14:c.1447-1G>T;ENST00000590208:exon14:c.1447-1G>T;ENST00000424334:exon15:c.1600-1G>T;ENST00000585595:exon15:c.1522-1G>T;ENST00000398495:exon13:c.1354-1G>T;ENST00000457839:exon15:c.1522-1G>T;ENST00000398493:exon13:c.1279-1G>T)	.	.	0.999991099472728	0.916
18	47799842	C	G	18	50273472	y	y	splicing	MBD1(NM_001204139:exon14:c.1447-1G>C;NM_001204141:exon13:c.1297-1G>C;NM_015847:exon13:c.1300-1G>C;NM_015846:exon14:c.1447-1G>C;NM_001204136:exon14:c.1447-1G>C;NM_015844:exon13:c.1279-1G>C;NM_001204140:exon14:c.1354-1G>C;NM_001204138:exon15:c.1519-1G>C;NM_001204137:exon15:c.1522-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1297-1G>C;ENST00000382948:exon14:c.1447-1G>C;ENST00000353909:exon13:c.1300-1G>C;ENST00000591416:exon14:c.1447-1G>C;ENST00000347968:exon13:c.1279-1G>C;ENST00000269468:exon14:c.1447-1G>C;ENST00000590208:exon14:c.1447-1G>C;ENST00000424334:exon15:c.1600-1G>C;ENST00000585595:exon15:c.1522-1G>C;ENST00000398495:exon13:c.1354-1G>C;ENST00000457839:exon15:c.1522-1G>C;ENST00000398493:exon13:c.1279-1G>C)	.	.	0.99997703206973	0.916
18	47799842	C	T	18	50273472	y	y	splicing	MBD1(NM_001204139:exon14:c.1447-1G>A;NM_001204141:exon13:c.1297-1G>A;NM_015847:exon13:c.1300-1G>A;NM_015846:exon14:c.1447-1G>A;NM_001204136:exon14:c.1447-1G>A;NM_015844:exon13:c.1279-1G>A;NM_001204140:exon14:c.1354-1G>A;NM_001204138:exon15:c.1519-1G>A;NM_001204137:exon15:c.1522-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1297-1G>A;ENST00000382948:exon14:c.1447-1G>A;ENST00000353909:exon13:c.1300-1G>A;ENST00000591416:exon14:c.1447-1G>A;ENST00000347968:exon13:c.1279-1G>A;ENST00000269468:exon14:c.1447-1G>A;ENST00000590208:exon14:c.1447-1G>A;ENST00000424334:exon15:c.1600-1G>A;ENST00000585595:exon15:c.1522-1G>A;ENST00000398495:exon13:c.1354-1G>A;ENST00000457839:exon15:c.1522-1G>A;ENST00000398493:exon13:c.1279-1G>A)	.	.	0.999991099472728	0.918
18	47799843	T	A	18	50273473	y	y	splicing	MBD1(NM_001204139:exon14:c.1447-2A>T;NM_001204141:exon13:c.1297-2A>T;NM_015847:exon13:c.1300-2A>T;NM_015846:exon14:c.1447-2A>T;NM_001204136:exon14:c.1447-2A>T;NM_015844:exon13:c.1279-2A>T;NM_001204140:exon14:c.1354-2A>T;NM_001204138:exon15:c.1519-2A>T;NM_001204137:exon15:c.1522-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1297-2A>T;ENST00000382948:exon14:c.1447-2A>T;ENST00000353909:exon13:c.1300-2A>T;ENST00000591416:exon14:c.1447-2A>T;ENST00000347968:exon13:c.1279-2A>T;ENST00000269468:exon14:c.1447-2A>T;ENST00000590208:exon14:c.1447-2A>T;ENST00000424334:exon15:c.1600-2A>T;ENST00000585595:exon15:c.1522-2A>T;ENST00000398495:exon13:c.1354-2A>T;ENST00000457839:exon15:c.1522-2A>T;ENST00000398493:exon13:c.1279-2A>T)	.	.	0.999988247793601	0.918
18	47799843	T	C	18	50273473	y	y	splicing	MBD1(NM_001204139:exon14:c.1447-2A>G;NM_001204141:exon13:c.1297-2A>G;NM_015847:exon13:c.1300-2A>G;NM_015846:exon14:c.1447-2A>G;NM_001204136:exon14:c.1447-2A>G;NM_015844:exon13:c.1279-2A>G;NM_001204140:exon14:c.1354-2A>G;NM_001204138:exon15:c.1519-2A>G;NM_001204137:exon15:c.1522-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1297-2A>G;ENST00000382948:exon14:c.1447-2A>G;ENST00000353909:exon13:c.1300-2A>G;ENST00000591416:exon14:c.1447-2A>G;ENST00000347968:exon13:c.1279-2A>G;ENST00000269468:exon14:c.1447-2A>G;ENST00000590208:exon14:c.1447-2A>G;ENST00000424334:exon15:c.1600-2A>G;ENST00000585595:exon15:c.1522-2A>G;ENST00000398495:exon13:c.1354-2A>G;ENST00000457839:exon15:c.1522-2A>G;ENST00000398493:exon13:c.1279-2A>G)	.	.	0.999988247793601	0.916
18	47799843	T	G	18	50273473	y	y	splicing	MBD1(NM_001204139:exon14:c.1447-2A>C;NM_001204141:exon13:c.1297-2A>C;NM_015847:exon13:c.1300-2A>C;NM_015846:exon14:c.1447-2A>C;NM_001204136:exon14:c.1447-2A>C;NM_015844:exon13:c.1279-2A>C;NM_001204140:exon14:c.1354-2A>C;NM_001204138:exon15:c.1519-2A>C;NM_001204137:exon15:c.1522-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon13:c.1297-2A>C;ENST00000382948:exon14:c.1447-2A>C;ENST00000353909:exon13:c.1300-2A>C;ENST00000591416:exon14:c.1447-2A>C;ENST00000347968:exon13:c.1279-2A>C;ENST00000269468:exon14:c.1447-2A>C;ENST00000590208:exon14:c.1447-2A>C;ENST00000424334:exon15:c.1600-2A>C;ENST00000585595:exon15:c.1522-2A>C;ENST00000398495:exon13:c.1354-2A>C;ENST00000457839:exon15:c.1522-2A>C;ENST00000398493:exon13:c.1279-2A>C)	.	.	0.999988247793601	0.916
18	47799844	G	A	18	50273474	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.023898901528867	0.11
18	47799844	G	C	18	50273474	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99965850423215	0.966
18	47799844	G	T	18	50273474	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.987357199096471	0.9
18	47799845	C	A	18	50273475	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.66523553327743E-5	0.002
18	47799845	C	G	18	50273475	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.74388420862525E-5	0.0
18	47799845	C	T	18	50273475	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.3982642640992E-5	0.0
18	47799846	G	A	18	50273476	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.52657853213365E-5	0.0
18	47799846	G	C	18	50273476	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.998475907104795	0.914
18	47799846	G	T	18	50273476	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.991011354258451	0.688
18	47799847	T	A	18	50273477	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.18303704977906E-4	0.004
18	47799847	T	C	18	50273477	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00116521306592028	0.01
18	47799847	T	G	18	50273477	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.20474178176512E-4	0.016
18	47799848	G	A	18	50273478	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.84130362630935E-4	0.016
18	47799848	G	C	18	50273478	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0190968782945251	0.066
18	47799848	G	T	18	50273478	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0108033733912142	0.094
18	47799849	A	C	18	50273479	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0181986366447239	0.154
18	47799849	A	G	18	50273479	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.81450439456288E-4	0.062
18	47799849	A	T	18	50273479	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00175622656795595	0.112
18	47799850	G	A	18	50273480	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0167540047660297	0.19
18	47799850	G	C	18	50273480	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.283213284121931	0.27
18	47799850	G	T	18	50273480	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.165380526286421	0.24
18	47799851	G	A	18	50273481	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.174086152399018	0.328
18	47799851	G	C	18	50273481	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.26725432974302	0.258
18	47799851	G	T	18	50273481	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.506614022114027	0.352
18	47799852	G	A	18	50273482	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0413970751571038	0.378
18	47799852	G	C	18	50273482	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.104475740120111	0.234
18	47799852	G	T	18	50273482	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.155087841519951	0.298
18	47799853	A	C	18	50273483	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.984794309351965	0.706
18	47799853	A	G	18	50273483	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.732330985129295	0.45
18	47799853	A	T	18	50273483	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.981894926784715	0.738
18	47799926	G	A	18	50273556	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.26240973765584E-5	0.0
18	47799926	G	C	18	50273556	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.26240973765584E-5	0.0
18	47799926	G	T	18	50273556	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.90490314547774E-5	0.0
18	47799927	C	A	18	50273557	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.90842117188873E-4	0.05
18	47799927	C	G	18	50273557	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.12292977359083E-4	0.0
18	47799927	C	T	18	50273557	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.75465819215211E-4	0.002
18	47799928	C	A	18	50273558	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.91929303546337E-5	0.0
18	47799928	C	G	18	50273558	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.89601266335288E-5	0.008
18	47799928	C	T	18	50273558	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.982937815824E-4	0.002
18	47799929	C	A	18	50273559	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.995779532682654	0.74
18	47799929	C	G	18	50273559	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.72429704425371	0.518
18	47799929	C	T	18	50273559	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.911955784683234	0.65
18	47799930	T	A	18	50273560	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.927143326148944	0.538
18	47799930	T	C	18	50273560	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.897062341227748	0.628
18	47799930	T	G	18	50273560	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.68617269470715	0.446
18	47799931	C	A	18	50273561	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.887644141334263	0.626
18	47799931	C	G	18	50273561	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.256467876598251	0.546
18	47799931	C	T	18	50273561	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.73219719862032E-4	0.008
18	47799932	A	C	18	50273562	y	y	splicing	MBD1(NM_001204139:exon13:c.1446+2T>G;NM_001204141:exon12:c.1296+2T>G;NM_002384:exon12:c.1278+2T>G;NM_015847:exon12:c.1299+2T>G;NM_015846:exon13:c.1446+2T>G;NM_015845:exon12:c.1377+2T>G;NM_001204136:exon13:c.1446+2T>G;NM_015844:exon12:c.1278+2T>G;NM_001204143:exon12:c.1278+2T>G;NM_001204142:exon13:c.1446+2T>G;NM_001204140:exon13:c.1353+2T>G;NM_001204138:exon14:c.1518+2T>G;NM_001204137:exon14:c.1521+2T>G;NM_001204151:exon11:c.1377+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.1296+2T>G;ENST00000592060:exon9:c.980+2T>G;ENST00000382948:exon13:c.1446+2T>G;ENST00000353909:exon12:c.1299+2T>G;ENST00000591416:exon13:c.1446+2T>G;ENST00000349085:exon12:c.1278+2T>G;ENST00000436910:exon12:c.1377+2T>G;ENST00000347968:exon12:c.1278+2T>G;ENST00000269468:exon13:c.1446+2T>G;ENST00000269471:exon12:c.1377+2T>G;ENST00000339998:exon13:c.1446+2T>G;ENST00000590208:exon13:c.1446+2T>G;ENST00000587605:exon12:c.1278+2T>G;ENST00000588937:exon11:c.1377+2T>G;ENST00000424334:exon14:c.1599+2T>G;ENST00000585595:exon14:c.1521+2T>G;ENST00000589541:exon4:c.396+2T>G;ENST00000398495:exon12:c.1353+2T>G;ENST00000457839:exon14:c.1521+2T>G;ENST00000398493:exon12:c.1278+2T>G;ENST00000591535:exon11:c.1377+2T>G;ENST00000398488:exon11:c.1278+2T>G)	.	.	0.999939020951004	0.918
18	47799932	A	G	18	50273562	y	y	splicing	MBD1(NM_001204139:exon13:c.1446+2T>C;NM_001204141:exon12:c.1296+2T>C;NM_002384:exon12:c.1278+2T>C;NM_015847:exon12:c.1299+2T>C;NM_015846:exon13:c.1446+2T>C;NM_015845:exon12:c.1377+2T>C;NM_001204136:exon13:c.1446+2T>C;NM_015844:exon12:c.1278+2T>C;NM_001204143:exon12:c.1278+2T>C;NM_001204142:exon13:c.1446+2T>C;NM_001204140:exon13:c.1353+2T>C;NM_001204138:exon14:c.1518+2T>C;NM_001204137:exon14:c.1521+2T>C;NM_001204151:exon11:c.1377+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.1296+2T>C;ENST00000592060:exon9:c.980+2T>C;ENST00000382948:exon13:c.1446+2T>C;ENST00000353909:exon12:c.1299+2T>C;ENST00000591416:exon13:c.1446+2T>C;ENST00000349085:exon12:c.1278+2T>C;ENST00000436910:exon12:c.1377+2T>C;ENST00000347968:exon12:c.1278+2T>C;ENST00000269468:exon13:c.1446+2T>C;ENST00000269471:exon12:c.1377+2T>C;ENST00000339998:exon13:c.1446+2T>C;ENST00000590208:exon13:c.1446+2T>C;ENST00000587605:exon12:c.1278+2T>C;ENST00000588937:exon11:c.1377+2T>C;ENST00000424334:exon14:c.1599+2T>C;ENST00000585595:exon14:c.1521+2T>C;ENST00000589541:exon4:c.396+2T>C;ENST00000398495:exon12:c.1353+2T>C;ENST00000457839:exon14:c.1521+2T>C;ENST00000398493:exon12:c.1278+2T>C;ENST00000591535:exon11:c.1377+2T>C;ENST00000398488:exon11:c.1278+2T>C)	.	.	0.999759211895434	0.874
18	47799932	A	T	18	50273562	y	y	splicing	MBD1(NM_001204139:exon13:c.1446+2T>A;NM_001204141:exon12:c.1296+2T>A;NM_002384:exon12:c.1278+2T>A;NM_015847:exon12:c.1299+2T>A;NM_015846:exon13:c.1446+2T>A;NM_015845:exon12:c.1377+2T>A;NM_001204136:exon13:c.1446+2T>A;NM_015844:exon12:c.1278+2T>A;NM_001204143:exon12:c.1278+2T>A;NM_001204142:exon13:c.1446+2T>A;NM_001204140:exon13:c.1353+2T>A;NM_001204138:exon14:c.1518+2T>A;NM_001204137:exon14:c.1521+2T>A;NM_001204151:exon11:c.1377+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.1296+2T>A;ENST00000592060:exon9:c.980+2T>A;ENST00000382948:exon13:c.1446+2T>A;ENST00000353909:exon12:c.1299+2T>A;ENST00000591416:exon13:c.1446+2T>A;ENST00000349085:exon12:c.1278+2T>A;ENST00000436910:exon12:c.1377+2T>A;ENST00000347968:exon12:c.1278+2T>A;ENST00000269468:exon13:c.1446+2T>A;ENST00000269471:exon12:c.1377+2T>A;ENST00000339998:exon13:c.1446+2T>A;ENST00000590208:exon13:c.1446+2T>A;ENST00000587605:exon12:c.1278+2T>A;ENST00000588937:exon11:c.1377+2T>A;ENST00000424334:exon14:c.1599+2T>A;ENST00000585595:exon14:c.1521+2T>A;ENST00000589541:exon4:c.396+2T>A;ENST00000398495:exon12:c.1353+2T>A;ENST00000457839:exon14:c.1521+2T>A;ENST00000398493:exon12:c.1278+2T>A;ENST00000591535:exon11:c.1377+2T>A;ENST00000398488:exon11:c.1278+2T>A)	.	.	0.999939020951004	0.918
18	47799933	C	A	18	50273563	y	y	splicing	MBD1(NM_001204139:exon13:c.1446+1G>T;NM_001204141:exon12:c.1296+1G>T;NM_002384:exon12:c.1278+1G>T;NM_015847:exon12:c.1299+1G>T;NM_015846:exon13:c.1446+1G>T;NM_015845:exon12:c.1377+1G>T;NM_001204136:exon13:c.1446+1G>T;NM_015844:exon12:c.1278+1G>T;NM_001204143:exon12:c.1278+1G>T;NM_001204142:exon13:c.1446+1G>T;NM_001204140:exon13:c.1353+1G>T;NM_001204138:exon14:c.1518+1G>T;NM_001204137:exon14:c.1521+1G>T;NM_001204151:exon11:c.1377+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.1296+1G>T;ENST00000592060:exon9:c.980+1G>T;ENST00000382948:exon13:c.1446+1G>T;ENST00000353909:exon12:c.1299+1G>T;ENST00000591416:exon13:c.1446+1G>T;ENST00000349085:exon12:c.1278+1G>T;ENST00000436910:exon12:c.1377+1G>T;ENST00000347968:exon12:c.1278+1G>T;ENST00000269468:exon13:c.1446+1G>T;ENST00000269471:exon12:c.1377+1G>T;ENST00000339998:exon13:c.1446+1G>T;ENST00000590208:exon13:c.1446+1G>T;ENST00000587605:exon12:c.1278+1G>T;ENST00000588937:exon11:c.1377+1G>T;ENST00000424334:exon14:c.1599+1G>T;ENST00000585595:exon14:c.1521+1G>T;ENST00000589541:exon4:c.396+1G>T;ENST00000398495:exon12:c.1353+1G>T;ENST00000457839:exon14:c.1521+1G>T;ENST00000398493:exon12:c.1278+1G>T;ENST00000591535:exon11:c.1377+1G>T;ENST00000398488:exon11:c.1278+1G>T)	.	.	0.999989072007339	0.934
18	47799933	C	G	18	50273563	y	y	splicing	MBD1(NM_001204139:exon13:c.1446+1G>C;NM_001204141:exon12:c.1296+1G>C;NM_002384:exon12:c.1278+1G>C;NM_015847:exon12:c.1299+1G>C;NM_015846:exon13:c.1446+1G>C;NM_015845:exon12:c.1377+1G>C;NM_001204136:exon13:c.1446+1G>C;NM_015844:exon12:c.1278+1G>C;NM_001204143:exon12:c.1278+1G>C;NM_001204142:exon13:c.1446+1G>C;NM_001204140:exon13:c.1353+1G>C;NM_001204138:exon14:c.1518+1G>C;NM_001204137:exon14:c.1521+1G>C;NM_001204151:exon11:c.1377+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.1296+1G>C;ENST00000592060:exon9:c.980+1G>C;ENST00000382948:exon13:c.1446+1G>C;ENST00000353909:exon12:c.1299+1G>C;ENST00000591416:exon13:c.1446+1G>C;ENST00000349085:exon12:c.1278+1G>C;ENST00000436910:exon12:c.1377+1G>C;ENST00000347968:exon12:c.1278+1G>C;ENST00000269468:exon13:c.1446+1G>C;ENST00000269471:exon12:c.1377+1G>C;ENST00000339998:exon13:c.1446+1G>C;ENST00000590208:exon13:c.1446+1G>C;ENST00000587605:exon12:c.1278+1G>C;ENST00000588937:exon11:c.1377+1G>C;ENST00000424334:exon14:c.1599+1G>C;ENST00000585595:exon14:c.1521+1G>C;ENST00000589541:exon4:c.396+1G>C;ENST00000398495:exon12:c.1353+1G>C;ENST00000457839:exon14:c.1521+1G>C;ENST00000398493:exon12:c.1278+1G>C;ENST00000591535:exon11:c.1377+1G>C;ENST00000398488:exon11:c.1278+1G>C)	.	.	0.999989072007339	0.934
18	47799933	C	T	18	50273563	y	y	splicing	MBD1(NM_001204139:exon13:c.1446+1G>A;NM_001204141:exon12:c.1296+1G>A;NM_002384:exon12:c.1278+1G>A;NM_015847:exon12:c.1299+1G>A;NM_015846:exon13:c.1446+1G>A;NM_015845:exon12:c.1377+1G>A;NM_001204136:exon13:c.1446+1G>A;NM_015844:exon12:c.1278+1G>A;NM_001204143:exon12:c.1278+1G>A;NM_001204142:exon13:c.1446+1G>A;NM_001204140:exon13:c.1353+1G>A;NM_001204138:exon14:c.1518+1G>A;NM_001204137:exon14:c.1521+1G>A;NM_001204151:exon11:c.1377+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.1296+1G>A;ENST00000592060:exon9:c.980+1G>A;ENST00000382948:exon13:c.1446+1G>A;ENST00000353909:exon12:c.1299+1G>A;ENST00000591416:exon13:c.1446+1G>A;ENST00000349085:exon12:c.1278+1G>A;ENST00000436910:exon12:c.1377+1G>A;ENST00000347968:exon12:c.1278+1G>A;ENST00000269468:exon13:c.1446+1G>A;ENST00000269471:exon12:c.1377+1G>A;ENST00000339998:exon13:c.1446+1G>A;ENST00000590208:exon13:c.1446+1G>A;ENST00000587605:exon12:c.1278+1G>A;ENST00000588937:exon11:c.1377+1G>A;ENST00000424334:exon14:c.1599+1G>A;ENST00000585595:exon14:c.1521+1G>A;ENST00000589541:exon4:c.396+1G>A;ENST00000398495:exon12:c.1353+1G>A;ENST00000457839:exon14:c.1521+1G>A;ENST00000398493:exon12:c.1278+1G>A;ENST00000591535:exon11:c.1377+1G>A;ENST00000398488:exon11:c.1278+1G>A)	.	.	0.999989072007339	0.934
18	47799934	C	A	18	50273564	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.G1278T:p.Q426H;MBD1:NM_001204151:exon10:c.G1377T:p.Q459H;MBD1:NM_001204137:exon13:c.G1521T:p.Q507H;MBD1:NM_015845:exon11:c.G1377T:p.Q459H;MBD1:NM_001204142:exon12:c.G1446T:p.Q482H;MBD1:NM_001204143:exon11:c.G1278T:p.Q426H;MBD1:NM_001204138:exon13:c.G1518T:p.Q506H;MBD1:NM_015846:exon12:c.G1446T:p.Q482H;MBD1:NM_001204140:exon12:c.G1353T:p.Q451H;MBD1:NM_001204139:exon12:c.G1446T:p.Q482H;MBD1:NM_015844:exon11:c.G1278T:p.Q426H;MBD1:NM_001204136:exon12:c.G1446T:p.Q482H;MBD1:NM_015847:exon11:c.G1299T:p.Q433H;MBD1:NM_001204141:exon11:c.G1296T:p.Q432H;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.G1521T:p.Q507H;ENSG00000141644:ENST00000424334:exon13:c.G1599T:p.Q533H;ENSG00000141644:ENST00000591535:exon10:c.G1377T:p.Q459H;ENSG00000141644:ENST00000398493:exon11:c.G1278T:p.Q426H;ENSG00000141644:ENST00000398488:exon10:c.G1278T:p.Q426H;ENSG00000141644:ENST00000353909:exon11:c.G1299T:p.Q433H;ENSG00000141644:ENST00000339998:exon12:c.G1446T:p.Q482H;ENSG00000141644:ENST00000589541:exon3:c.G396T:p.Q132H;ENSG00000141644:ENST00000591416:exon12:c.G1446T:p.Q482H;ENSG00000141644:ENST00000269471:exon11:c.G1377T:p.Q459H;ENSG00000141644:ENST00000457839:exon13:c.G1521T:p.Q507H;ENSG00000141644:ENST00000590208:exon12:c.G1446T:p.Q482H;ENSG00000141644:ENST00000347968:exon11:c.G1278T:p.Q426H;ENSG00000141644:ENST00000382948:exon12:c.G1446T:p.Q482H;ENSG00000141644:ENST00000588937:exon10:c.G1377T:p.Q459H;ENSG00000141644:ENST00000349085:exon11:c.G1278T:p.Q426H;ENSG00000141644:ENST00000436910:exon11:c.G1377T:p.Q459H;ENSG00000141644:ENST00000269468:exon12:c.G1446T:p.Q482H;ENSG00000141644:ENST00000398495:exon11:c.G1353T:p.Q451H;ENSG00000141644:ENST00000585672:exon11:c.G1296T:p.Q432H;ENSG00000141644:ENST00000587605:exon11:c.G1278T:p.Q426H;	0.99994560403805	0.976
18	47799934	C	G	18	50273564	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.G1278C:p.Q426H;MBD1:NM_001204151:exon10:c.G1377C:p.Q459H;MBD1:NM_001204137:exon13:c.G1521C:p.Q507H;MBD1:NM_015845:exon11:c.G1377C:p.Q459H;MBD1:NM_001204142:exon12:c.G1446C:p.Q482H;MBD1:NM_001204143:exon11:c.G1278C:p.Q426H;MBD1:NM_001204138:exon13:c.G1518C:p.Q506H;MBD1:NM_015846:exon12:c.G1446C:p.Q482H;MBD1:NM_001204140:exon12:c.G1353C:p.Q451H;MBD1:NM_001204139:exon12:c.G1446C:p.Q482H;MBD1:NM_015844:exon11:c.G1278C:p.Q426H;MBD1:NM_001204136:exon12:c.G1446C:p.Q482H;MBD1:NM_015847:exon11:c.G1299C:p.Q433H;MBD1:NM_001204141:exon11:c.G1296C:p.Q432H;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.G1521C:p.Q507H;ENSG00000141644:ENST00000424334:exon13:c.G1599C:p.Q533H;ENSG00000141644:ENST00000591535:exon10:c.G1377C:p.Q459H;ENSG00000141644:ENST00000398493:exon11:c.G1278C:p.Q426H;ENSG00000141644:ENST00000398488:exon10:c.G1278C:p.Q426H;ENSG00000141644:ENST00000353909:exon11:c.G1299C:p.Q433H;ENSG00000141644:ENST00000339998:exon12:c.G1446C:p.Q482H;ENSG00000141644:ENST00000589541:exon3:c.G396C:p.Q132H;ENSG00000141644:ENST00000591416:exon12:c.G1446C:p.Q482H;ENSG00000141644:ENST00000269471:exon11:c.G1377C:p.Q459H;ENSG00000141644:ENST00000457839:exon13:c.G1521C:p.Q507H;ENSG00000141644:ENST00000590208:exon12:c.G1446C:p.Q482H;ENSG00000141644:ENST00000347968:exon11:c.G1278C:p.Q426H;ENSG00000141644:ENST00000382948:exon12:c.G1446C:p.Q482H;ENSG00000141644:ENST00000588937:exon10:c.G1377C:p.Q459H;ENSG00000141644:ENST00000349085:exon11:c.G1278C:p.Q426H;ENSG00000141644:ENST00000436910:exon11:c.G1377C:p.Q459H;ENSG00000141644:ENST00000269468:exon12:c.G1446C:p.Q482H;ENSG00000141644:ENST00000398495:exon11:c.G1353C:p.Q451H;ENSG00000141644:ENST00000585672:exon11:c.G1296C:p.Q432H;ENSG00000141644:ENST00000587605:exon11:c.G1278C:p.Q426H;	0.999993366230549	1.0
18	47799934	C	T	18	50273564	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon11:c.G1278A:p.Q426Q;MBD1:NM_001204151:exon10:c.G1377A:p.Q459Q;MBD1:NM_001204137:exon13:c.G1521A:p.Q507Q;MBD1:NM_015845:exon11:c.G1377A:p.Q459Q;MBD1:NM_001204142:exon12:c.G1446A:p.Q482Q;MBD1:NM_001204143:exon11:c.G1278A:p.Q426Q;MBD1:NM_001204138:exon13:c.G1518A:p.Q506Q;MBD1:NM_015846:exon12:c.G1446A:p.Q482Q;MBD1:NM_001204140:exon12:c.G1353A:p.Q451Q;MBD1:NM_001204139:exon12:c.G1446A:p.Q482Q;MBD1:NM_015844:exon11:c.G1278A:p.Q426Q;MBD1:NM_001204136:exon12:c.G1446A:p.Q482Q;MBD1:NM_015847:exon11:c.G1299A:p.Q433Q;MBD1:NM_001204141:exon11:c.G1296A:p.Q432Q;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.G1521A:p.Q507Q;ENSG00000141644:ENST00000424334:exon13:c.G1599A:p.Q533Q;ENSG00000141644:ENST00000591535:exon10:c.G1377A:p.Q459Q;ENSG00000141644:ENST00000398493:exon11:c.G1278A:p.Q426Q;ENSG00000141644:ENST00000398488:exon10:c.G1278A:p.Q426Q;ENSG00000141644:ENST00000353909:exon11:c.G1299A:p.Q433Q;ENSG00000141644:ENST00000339998:exon12:c.G1446A:p.Q482Q;ENSG00000141644:ENST00000589541:exon3:c.G396A:p.Q132Q;ENSG00000141644:ENST00000591416:exon12:c.G1446A:p.Q482Q;ENSG00000141644:ENST00000269471:exon11:c.G1377A:p.Q459Q;ENSG00000141644:ENST00000457839:exon13:c.G1521A:p.Q507Q;ENSG00000141644:ENST00000590208:exon12:c.G1446A:p.Q482Q;ENSG00000141644:ENST00000347968:exon11:c.G1278A:p.Q426Q;ENSG00000141644:ENST00000382948:exon12:c.G1446A:p.Q482Q;ENSG00000141644:ENST00000588937:exon10:c.G1377A:p.Q459Q;ENSG00000141644:ENST00000349085:exon11:c.G1278A:p.Q426Q;ENSG00000141644:ENST00000436910:exon11:c.G1377A:p.Q459Q;ENSG00000141644:ENST00000269468:exon12:c.G1446A:p.Q482Q;ENSG00000141644:ENST00000398495:exon11:c.G1353A:p.Q451Q;ENSG00000141644:ENST00000585672:exon11:c.G1296A:p.Q432Q;ENSG00000141644:ENST00000587605:exon11:c.G1278A:p.Q426Q;	0.999532238632906	0.96
18	47799935	T	A	18	50273565	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.A1277T:p.Q426L;MBD1:NM_001204151:exon10:c.A1376T:p.Q459L;MBD1:NM_001204137:exon13:c.A1520T:p.Q507L;MBD1:NM_015845:exon11:c.A1376T:p.Q459L;MBD1:NM_001204142:exon12:c.A1445T:p.Q482L;MBD1:NM_001204143:exon11:c.A1277T:p.Q426L;MBD1:NM_001204138:exon13:c.A1517T:p.Q506L;MBD1:NM_015846:exon12:c.A1445T:p.Q482L;MBD1:NM_001204140:exon12:c.A1352T:p.Q451L;MBD1:NM_001204139:exon12:c.A1445T:p.Q482L;MBD1:NM_015844:exon11:c.A1277T:p.Q426L;MBD1:NM_001204136:exon12:c.A1445T:p.Q482L;MBD1:NM_015847:exon11:c.A1298T:p.Q433L;MBD1:NM_001204141:exon11:c.A1295T:p.Q432L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.A1520T:p.Q507L;ENSG00000141644:ENST00000424334:exon13:c.A1598T:p.Q533L;ENSG00000141644:ENST00000591535:exon10:c.A1376T:p.Q459L;ENSG00000141644:ENST00000398493:exon11:c.A1277T:p.Q426L;ENSG00000141644:ENST00000398488:exon10:c.A1277T:p.Q426L;ENSG00000141644:ENST00000353909:exon11:c.A1298T:p.Q433L;ENSG00000141644:ENST00000339998:exon12:c.A1445T:p.Q482L;ENSG00000141644:ENST00000589541:exon3:c.A395T:p.Q132L;ENSG00000141644:ENST00000591416:exon12:c.A1445T:p.Q482L;ENSG00000141644:ENST00000269471:exon11:c.A1376T:p.Q459L;ENSG00000141644:ENST00000457839:exon13:c.A1520T:p.Q507L;ENSG00000141644:ENST00000590208:exon12:c.A1445T:p.Q482L;ENSG00000141644:ENST00000347968:exon11:c.A1277T:p.Q426L;ENSG00000141644:ENST00000382948:exon12:c.A1445T:p.Q482L;ENSG00000141644:ENST00000588937:exon10:c.A1376T:p.Q459L;ENSG00000141644:ENST00000349085:exon11:c.A1277T:p.Q426L;ENSG00000141644:ENST00000436910:exon11:c.A1376T:p.Q459L;ENSG00000141644:ENST00000269468:exon12:c.A1445T:p.Q482L;ENSG00000141644:ENST00000398495:exon11:c.A1352T:p.Q451L;ENSG00000141644:ENST00000585672:exon11:c.A1295T:p.Q432L;ENSG00000141644:ENST00000587605:exon11:c.A1277T:p.Q426L;	0.999403947951694	0.958
18	47799935	T	C	18	50273565	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.A1277G:p.Q426R;MBD1:NM_001204151:exon10:c.A1376G:p.Q459R;MBD1:NM_001204137:exon13:c.A1520G:p.Q507R;MBD1:NM_015845:exon11:c.A1376G:p.Q459R;MBD1:NM_001204142:exon12:c.A1445G:p.Q482R;MBD1:NM_001204143:exon11:c.A1277G:p.Q426R;MBD1:NM_001204138:exon13:c.A1517G:p.Q506R;MBD1:NM_015846:exon12:c.A1445G:p.Q482R;MBD1:NM_001204140:exon12:c.A1352G:p.Q451R;MBD1:NM_001204139:exon12:c.A1445G:p.Q482R;MBD1:NM_015844:exon11:c.A1277G:p.Q426R;MBD1:NM_001204136:exon12:c.A1445G:p.Q482R;MBD1:NM_015847:exon11:c.A1298G:p.Q433R;MBD1:NM_001204141:exon11:c.A1295G:p.Q432R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.A1520G:p.Q507R;ENSG00000141644:ENST00000424334:exon13:c.A1598G:p.Q533R;ENSG00000141644:ENST00000591535:exon10:c.A1376G:p.Q459R;ENSG00000141644:ENST00000398493:exon11:c.A1277G:p.Q426R;ENSG00000141644:ENST00000398488:exon10:c.A1277G:p.Q426R;ENSG00000141644:ENST00000353909:exon11:c.A1298G:p.Q433R;ENSG00000141644:ENST00000339998:exon12:c.A1445G:p.Q482R;ENSG00000141644:ENST00000589541:exon3:c.A395G:p.Q132R;ENSG00000141644:ENST00000591416:exon12:c.A1445G:p.Q482R;ENSG00000141644:ENST00000269471:exon11:c.A1376G:p.Q459R;ENSG00000141644:ENST00000457839:exon13:c.A1520G:p.Q507R;ENSG00000141644:ENST00000590208:exon12:c.A1445G:p.Q482R;ENSG00000141644:ENST00000347968:exon11:c.A1277G:p.Q426R;ENSG00000141644:ENST00000382948:exon12:c.A1445G:p.Q482R;ENSG00000141644:ENST00000588937:exon10:c.A1376G:p.Q459R;ENSG00000141644:ENST00000349085:exon11:c.A1277G:p.Q426R;ENSG00000141644:ENST00000436910:exon11:c.A1376G:p.Q459R;ENSG00000141644:ENST00000269468:exon12:c.A1445G:p.Q482R;ENSG00000141644:ENST00000398495:exon11:c.A1352G:p.Q451R;ENSG00000141644:ENST00000585672:exon11:c.A1295G:p.Q432R;ENSG00000141644:ENST00000587605:exon11:c.A1277G:p.Q426R;	0.999473493106376	0.976
18	47799935	T	G	18	50273565	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.A1277C:p.Q426P;MBD1:NM_001204151:exon10:c.A1376C:p.Q459P;MBD1:NM_001204137:exon13:c.A1520C:p.Q507P;MBD1:NM_015845:exon11:c.A1376C:p.Q459P;MBD1:NM_001204142:exon12:c.A1445C:p.Q482P;MBD1:NM_001204143:exon11:c.A1277C:p.Q426P;MBD1:NM_001204138:exon13:c.A1517C:p.Q506P;MBD1:NM_015846:exon12:c.A1445C:p.Q482P;MBD1:NM_001204140:exon12:c.A1352C:p.Q451P;MBD1:NM_001204139:exon12:c.A1445C:p.Q482P;MBD1:NM_015844:exon11:c.A1277C:p.Q426P;MBD1:NM_001204136:exon12:c.A1445C:p.Q482P;MBD1:NM_015847:exon11:c.A1298C:p.Q433P;MBD1:NM_001204141:exon11:c.A1295C:p.Q432P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.A1520C:p.Q507P;ENSG00000141644:ENST00000424334:exon13:c.A1598C:p.Q533P;ENSG00000141644:ENST00000591535:exon10:c.A1376C:p.Q459P;ENSG00000141644:ENST00000398493:exon11:c.A1277C:p.Q426P;ENSG00000141644:ENST00000398488:exon10:c.A1277C:p.Q426P;ENSG00000141644:ENST00000353909:exon11:c.A1298C:p.Q433P;ENSG00000141644:ENST00000339998:exon12:c.A1445C:p.Q482P;ENSG00000141644:ENST00000589541:exon3:c.A395C:p.Q132P;ENSG00000141644:ENST00000591416:exon12:c.A1445C:p.Q482P;ENSG00000141644:ENST00000269471:exon11:c.A1376C:p.Q459P;ENSG00000141644:ENST00000457839:exon13:c.A1520C:p.Q507P;ENSG00000141644:ENST00000590208:exon12:c.A1445C:p.Q482P;ENSG00000141644:ENST00000347968:exon11:c.A1277C:p.Q426P;ENSG00000141644:ENST00000382948:exon12:c.A1445C:p.Q482P;ENSG00000141644:ENST00000588937:exon10:c.A1376C:p.Q459P;ENSG00000141644:ENST00000349085:exon11:c.A1277C:p.Q426P;ENSG00000141644:ENST00000436910:exon11:c.A1376C:p.Q459P;ENSG00000141644:ENST00000269468:exon12:c.A1445C:p.Q482P;ENSG00000141644:ENST00000398495:exon11:c.A1352C:p.Q451P;ENSG00000141644:ENST00000585672:exon11:c.A1295C:p.Q432P;ENSG00000141644:ENST00000587605:exon11:c.A1277C:p.Q426P;	0.992968117466483	0.88
18	47799936	G	A	18	50273566	y	y	exonic	MBD1	stopgain SNV	MBD1:NM_002384:exon11:c.C1276T:p.Q426X;MBD1:NM_001204151:exon10:c.C1375T:p.Q459X;MBD1:NM_001204137:exon13:c.C1519T:p.Q507X;MBD1:NM_015845:exon11:c.C1375T:p.Q459X;MBD1:NM_001204142:exon12:c.C1444T:p.Q482X;MBD1:NM_001204143:exon11:c.C1276T:p.Q426X;MBD1:NM_001204138:exon13:c.C1516T:p.Q506X;MBD1:NM_015846:exon12:c.C1444T:p.Q482X;MBD1:NM_001204140:exon12:c.C1351T:p.Q451X;MBD1:NM_001204139:exon12:c.C1444T:p.Q482X;MBD1:NM_015844:exon11:c.C1276T:p.Q426X;MBD1:NM_001204136:exon12:c.C1444T:p.Q482X;MBD1:NM_015847:exon11:c.C1297T:p.Q433X;MBD1:NM_001204141:exon11:c.C1294T:p.Q432X;	exonic	ENSG00000141644	stopgain SNV	ENSG00000141644:ENST00000585595:exon13:c.C1519T:p.Q507X;ENSG00000141644:ENST00000424334:exon13:c.C1597T:p.Q533X;ENSG00000141644:ENST00000591535:exon10:c.C1375T:p.Q459X;ENSG00000141644:ENST00000398493:exon11:c.C1276T:p.Q426X;ENSG00000141644:ENST00000398488:exon10:c.C1276T:p.Q426X;ENSG00000141644:ENST00000353909:exon11:c.C1297T:p.Q433X;ENSG00000141644:ENST00000339998:exon12:c.C1444T:p.Q482X;ENSG00000141644:ENST00000589541:exon3:c.C394T:p.Q132X;ENSG00000141644:ENST00000591416:exon12:c.C1444T:p.Q482X;ENSG00000141644:ENST00000269471:exon11:c.C1375T:p.Q459X;ENSG00000141644:ENST00000457839:exon13:c.C1519T:p.Q507X;ENSG00000141644:ENST00000590208:exon12:c.C1444T:p.Q482X;ENSG00000141644:ENST00000347968:exon11:c.C1276T:p.Q426X;ENSG00000141644:ENST00000382948:exon12:c.C1444T:p.Q482X;ENSG00000141644:ENST00000588937:exon10:c.C1375T:p.Q459X;ENSG00000141644:ENST00000349085:exon11:c.C1276T:p.Q426X;ENSG00000141644:ENST00000436910:exon11:c.C1375T:p.Q459X;ENSG00000141644:ENST00000269468:exon12:c.C1444T:p.Q482X;ENSG00000141644:ENST00000398495:exon11:c.C1351T:p.Q451X;ENSG00000141644:ENST00000585672:exon11:c.C1294T:p.Q432X;ENSG00000141644:ENST00000587605:exon11:c.C1276T:p.Q426X;	0.999354959734596	0.894
18	47799936	G	C	18	50273566	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.C1276G:p.Q426E;MBD1:NM_001204151:exon10:c.C1375G:p.Q459E;MBD1:NM_001204137:exon13:c.C1519G:p.Q507E;MBD1:NM_015845:exon11:c.C1375G:p.Q459E;MBD1:NM_001204142:exon12:c.C1444G:p.Q482E;MBD1:NM_001204143:exon11:c.C1276G:p.Q426E;MBD1:NM_001204138:exon13:c.C1516G:p.Q506E;MBD1:NM_015846:exon12:c.C1444G:p.Q482E;MBD1:NM_001204140:exon12:c.C1351G:p.Q451E;MBD1:NM_001204139:exon12:c.C1444G:p.Q482E;MBD1:NM_015844:exon11:c.C1276G:p.Q426E;MBD1:NM_001204136:exon12:c.C1444G:p.Q482E;MBD1:NM_015847:exon11:c.C1297G:p.Q433E;MBD1:NM_001204141:exon11:c.C1294G:p.Q432E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.C1519G:p.Q507E;ENSG00000141644:ENST00000424334:exon13:c.C1597G:p.Q533E;ENSG00000141644:ENST00000591535:exon10:c.C1375G:p.Q459E;ENSG00000141644:ENST00000398493:exon11:c.C1276G:p.Q426E;ENSG00000141644:ENST00000398488:exon10:c.C1276G:p.Q426E;ENSG00000141644:ENST00000353909:exon11:c.C1297G:p.Q433E;ENSG00000141644:ENST00000339998:exon12:c.C1444G:p.Q482E;ENSG00000141644:ENST00000589541:exon3:c.C394G:p.Q132E;ENSG00000141644:ENST00000591416:exon12:c.C1444G:p.Q482E;ENSG00000141644:ENST00000269471:exon11:c.C1375G:p.Q459E;ENSG00000141644:ENST00000457839:exon13:c.C1519G:p.Q507E;ENSG00000141644:ENST00000590208:exon12:c.C1444G:p.Q482E;ENSG00000141644:ENST00000347968:exon11:c.C1276G:p.Q426E;ENSG00000141644:ENST00000382948:exon12:c.C1444G:p.Q482E;ENSG00000141644:ENST00000588937:exon10:c.C1375G:p.Q459E;ENSG00000141644:ENST00000349085:exon11:c.C1276G:p.Q426E;ENSG00000141644:ENST00000436910:exon11:c.C1375G:p.Q459E;ENSG00000141644:ENST00000269468:exon12:c.C1444G:p.Q482E;ENSG00000141644:ENST00000398495:exon11:c.C1351G:p.Q451E;ENSG00000141644:ENST00000585672:exon11:c.C1294G:p.Q432E;ENSG00000141644:ENST00000587605:exon11:c.C1276G:p.Q426E;	0.883302291431882	0.652
18	47799936	G	T	18	50273566	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.C1276A:p.Q426K;MBD1:NM_001204151:exon10:c.C1375A:p.Q459K;MBD1:NM_001204137:exon13:c.C1519A:p.Q507K;MBD1:NM_015845:exon11:c.C1375A:p.Q459K;MBD1:NM_001204142:exon12:c.C1444A:p.Q482K;MBD1:NM_001204143:exon11:c.C1276A:p.Q426K;MBD1:NM_001204138:exon13:c.C1516A:p.Q506K;MBD1:NM_015846:exon12:c.C1444A:p.Q482K;MBD1:NM_001204140:exon12:c.C1351A:p.Q451K;MBD1:NM_001204139:exon12:c.C1444A:p.Q482K;MBD1:NM_015844:exon11:c.C1276A:p.Q426K;MBD1:NM_001204136:exon12:c.C1444A:p.Q482K;MBD1:NM_015847:exon11:c.C1297A:p.Q433K;MBD1:NM_001204141:exon11:c.C1294A:p.Q432K;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.C1519A:p.Q507K;ENSG00000141644:ENST00000424334:exon13:c.C1597A:p.Q533K;ENSG00000141644:ENST00000591535:exon10:c.C1375A:p.Q459K;ENSG00000141644:ENST00000398493:exon11:c.C1276A:p.Q426K;ENSG00000141644:ENST00000398488:exon10:c.C1276A:p.Q426K;ENSG00000141644:ENST00000353909:exon11:c.C1297A:p.Q433K;ENSG00000141644:ENST00000339998:exon12:c.C1444A:p.Q482K;ENSG00000141644:ENST00000589541:exon3:c.C394A:p.Q132K;ENSG00000141644:ENST00000591416:exon12:c.C1444A:p.Q482K;ENSG00000141644:ENST00000269471:exon11:c.C1375A:p.Q459K;ENSG00000141644:ENST00000457839:exon13:c.C1519A:p.Q507K;ENSG00000141644:ENST00000590208:exon12:c.C1444A:p.Q482K;ENSG00000141644:ENST00000347968:exon11:c.C1276A:p.Q426K;ENSG00000141644:ENST00000382948:exon12:c.C1444A:p.Q482K;ENSG00000141644:ENST00000588937:exon10:c.C1375A:p.Q459K;ENSG00000141644:ENST00000349085:exon11:c.C1276A:p.Q426K;ENSG00000141644:ENST00000436910:exon11:c.C1375A:p.Q459K;ENSG00000141644:ENST00000269468:exon12:c.C1444A:p.Q482K;ENSG00000141644:ENST00000398495:exon11:c.C1351A:p.Q451K;ENSG00000141644:ENST00000585672:exon11:c.C1294A:p.Q432K;ENSG00000141644:ENST00000587605:exon11:c.C1276A:p.Q426K;	0.957687546290637	0.782
18	47800232	T	A	18	50273862	y	y	exonic;splicing	MBD1;MBD1(NM_001204138:exon14:c.1222-2A>T)	nonsynonymous SNV	MBD1:NM_002384:exon11:c.A980T:p.K327M;MBD1:NM_001204151:exon10:c.A1079T:p.K360M;MBD1:NM_001204137:exon13:c.A1223T:p.K408M;MBD1:NM_015845:exon11:c.A1079T:p.K360M;MBD1:NM_001204142:exon12:c.A1148T:p.K383M;MBD1:NM_001204143:exon11:c.A980T:p.K327M;MBD1:NM_015846:exon12:c.A1148T:p.K383M;MBD1:NM_001204140:exon12:c.A1055T:p.K352M;MBD1:NM_001204139:exon12:c.A1148T:p.K383M;MBD1:NM_015844:exon11:c.A980T:p.K327M;MBD1:NM_001204136:exon12:c.A1148T:p.K383M;MBD1:NM_015847:exon11:c.A1001T:p.K334M;MBD1:NM_001204141:exon11:c.A998T:p.K333M;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.A1223T:p.K408M;ENSG00000141644:ENST00000424334:exon13:c.A1301T:p.K434M;ENSG00000141644:ENST00000591535:exon10:c.A1079T:p.K360M;ENSG00000141644:ENST00000398493:exon11:c.A980T:p.K327M;ENSG00000141644:ENST00000398488:exon10:c.A980T:p.K327M;ENSG00000141644:ENST00000353909:exon11:c.A1001T:p.K334M;ENSG00000141644:ENST00000339998:exon12:c.A1148T:p.K383M;ENSG00000141644:ENST00000589541:exon3:c.A98T:p.K33M;ENSG00000141644:ENST00000591416:exon12:c.A1148T:p.K383M;ENSG00000141644:ENST00000269471:exon11:c.A1079T:p.K360M;ENSG00000141644:ENST00000457839:exon13:c.A1223T:p.K408M;ENSG00000141644:ENST00000590208:exon12:c.A1148T:p.K383M;ENSG00000141644:ENST00000347968:exon11:c.A980T:p.K327M;ENSG00000141644:ENST00000382948:exon12:c.A1148T:p.K383M;ENSG00000141644:ENST00000588937:exon10:c.A1079T:p.K360M;ENSG00000141644:ENST00000349085:exon11:c.A980T:p.K327M;ENSG00000141644:ENST00000436910:exon11:c.A1079T:p.K360M;ENSG00000141644:ENST00000269468:exon12:c.A1148T:p.K383M;ENSG00000141644:ENST00000398495:exon11:c.A1055T:p.K352M;ENSG00000141644:ENST00000585672:exon11:c.A998T:p.K333M;ENSG00000141644:ENST00000587605:exon11:c.A980T:p.K327M;	0.708618966584105	0.61
18	47800232	T	C	18	50273862	y	y	exonic;splicing	MBD1;MBD1(NM_001204138:exon14:c.1222-2A>G)	nonsynonymous SNV	MBD1:NM_002384:exon11:c.A980G:p.K327R;MBD1:NM_001204151:exon10:c.A1079G:p.K360R;MBD1:NM_001204137:exon13:c.A1223G:p.K408R;MBD1:NM_015845:exon11:c.A1079G:p.K360R;MBD1:NM_001204142:exon12:c.A1148G:p.K383R;MBD1:NM_001204143:exon11:c.A980G:p.K327R;MBD1:NM_015846:exon12:c.A1148G:p.K383R;MBD1:NM_001204140:exon12:c.A1055G:p.K352R;MBD1:NM_001204139:exon12:c.A1148G:p.K383R;MBD1:NM_015844:exon11:c.A980G:p.K327R;MBD1:NM_001204136:exon12:c.A1148G:p.K383R;MBD1:NM_015847:exon11:c.A1001G:p.K334R;MBD1:NM_001204141:exon11:c.A998G:p.K333R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.A1223G:p.K408R;ENSG00000141644:ENST00000424334:exon13:c.A1301G:p.K434R;ENSG00000141644:ENST00000591535:exon10:c.A1079G:p.K360R;ENSG00000141644:ENST00000398493:exon11:c.A980G:p.K327R;ENSG00000141644:ENST00000398488:exon10:c.A980G:p.K327R;ENSG00000141644:ENST00000353909:exon11:c.A1001G:p.K334R;ENSG00000141644:ENST00000339998:exon12:c.A1148G:p.K383R;ENSG00000141644:ENST00000589541:exon3:c.A98G:p.K33R;ENSG00000141644:ENST00000591416:exon12:c.A1148G:p.K383R;ENSG00000141644:ENST00000269471:exon11:c.A1079G:p.K360R;ENSG00000141644:ENST00000457839:exon13:c.A1223G:p.K408R;ENSG00000141644:ENST00000590208:exon12:c.A1148G:p.K383R;ENSG00000141644:ENST00000347968:exon11:c.A980G:p.K327R;ENSG00000141644:ENST00000382948:exon12:c.A1148G:p.K383R;ENSG00000141644:ENST00000588937:exon10:c.A1079G:p.K360R;ENSG00000141644:ENST00000349085:exon11:c.A980G:p.K327R;ENSG00000141644:ENST00000436910:exon11:c.A1079G:p.K360R;ENSG00000141644:ENST00000269468:exon12:c.A1148G:p.K383R;ENSG00000141644:ENST00000398495:exon11:c.A1055G:p.K352R;ENSG00000141644:ENST00000585672:exon11:c.A998G:p.K333R;ENSG00000141644:ENST00000587605:exon11:c.A980G:p.K327R;	0.799396725093429	0.648
18	47800232	T	G	18	50273862	y	y	exonic;splicing	MBD1;MBD1(NM_001204138:exon14:c.1222-2A>C)	nonsynonymous SNV	MBD1:NM_002384:exon11:c.A980C:p.K327T;MBD1:NM_001204151:exon10:c.A1079C:p.K360T;MBD1:NM_001204137:exon13:c.A1223C:p.K408T;MBD1:NM_015845:exon11:c.A1079C:p.K360T;MBD1:NM_001204142:exon12:c.A1148C:p.K383T;MBD1:NM_001204143:exon11:c.A980C:p.K327T;MBD1:NM_015846:exon12:c.A1148C:p.K383T;MBD1:NM_001204140:exon12:c.A1055C:p.K352T;MBD1:NM_001204139:exon12:c.A1148C:p.K383T;MBD1:NM_015844:exon11:c.A980C:p.K327T;MBD1:NM_001204136:exon12:c.A1148C:p.K383T;MBD1:NM_015847:exon11:c.A1001C:p.K334T;MBD1:NM_001204141:exon11:c.A998C:p.K333T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.A1223C:p.K408T;ENSG00000141644:ENST00000424334:exon13:c.A1301C:p.K434T;ENSG00000141644:ENST00000591535:exon10:c.A1079C:p.K360T;ENSG00000141644:ENST00000398493:exon11:c.A980C:p.K327T;ENSG00000141644:ENST00000398488:exon10:c.A980C:p.K327T;ENSG00000141644:ENST00000353909:exon11:c.A1001C:p.K334T;ENSG00000141644:ENST00000339998:exon12:c.A1148C:p.K383T;ENSG00000141644:ENST00000589541:exon3:c.A98C:p.K33T;ENSG00000141644:ENST00000591416:exon12:c.A1148C:p.K383T;ENSG00000141644:ENST00000269471:exon11:c.A1079C:p.K360T;ENSG00000141644:ENST00000457839:exon13:c.A1223C:p.K408T;ENSG00000141644:ENST00000590208:exon12:c.A1148C:p.K383T;ENSG00000141644:ENST00000347968:exon11:c.A980C:p.K327T;ENSG00000141644:ENST00000382948:exon12:c.A1148C:p.K383T;ENSG00000141644:ENST00000588937:exon10:c.A1079C:p.K360T;ENSG00000141644:ENST00000349085:exon11:c.A980C:p.K327T;ENSG00000141644:ENST00000436910:exon11:c.A1079C:p.K360T;ENSG00000141644:ENST00000269468:exon12:c.A1148C:p.K383T;ENSG00000141644:ENST00000398495:exon11:c.A1055C:p.K352T;ENSG00000141644:ENST00000585672:exon11:c.A998C:p.K333T;ENSG00000141644:ENST00000587605:exon11:c.A980C:p.K327T;	0.720383220311028	0.676
18	47800233	T	A	18	50273863	y	y	exonic	MBD1	stopgain SNV	MBD1:NM_002384:exon11:c.A979T:p.K327X;MBD1:NM_001204151:exon10:c.A1078T:p.K360X;MBD1:NM_001204137:exon13:c.A1222T:p.K408X;MBD1:NM_015845:exon11:c.A1078T:p.K360X;MBD1:NM_001204142:exon12:c.A1147T:p.K383X;MBD1:NM_001204143:exon11:c.A979T:p.K327X;MBD1:NM_015846:exon12:c.A1147T:p.K383X;MBD1:NM_001204140:exon12:c.A1054T:p.K352X;MBD1:NM_001204139:exon12:c.A1147T:p.K383X;MBD1:NM_015844:exon11:c.A979T:p.K327X;MBD1:NM_001204136:exon12:c.A1147T:p.K383X;MBD1:NM_015847:exon11:c.A1000T:p.K334X;MBD1:NM_001204141:exon11:c.A997T:p.K333X;	exonic	ENSG00000141644	stopgain SNV	ENSG00000141644:ENST00000585595:exon13:c.A1222T:p.K408X;ENSG00000141644:ENST00000424334:exon13:c.A1300T:p.K434X;ENSG00000141644:ENST00000591535:exon10:c.A1078T:p.K360X;ENSG00000141644:ENST00000398493:exon11:c.A979T:p.K327X;ENSG00000141644:ENST00000398488:exon10:c.A979T:p.K327X;ENSG00000141644:ENST00000353909:exon11:c.A1000T:p.K334X;ENSG00000141644:ENST00000339998:exon12:c.A1147T:p.K383X;ENSG00000141644:ENST00000589541:exon3:c.A97T:p.K33X;ENSG00000141644:ENST00000591416:exon12:c.A1147T:p.K383X;ENSG00000141644:ENST00000269471:exon11:c.A1078T:p.K360X;ENSG00000141644:ENST00000457839:exon13:c.A1222T:p.K408X;ENSG00000141644:ENST00000590208:exon12:c.A1147T:p.K383X;ENSG00000141644:ENST00000347968:exon11:c.A979T:p.K327X;ENSG00000141644:ENST00000382948:exon12:c.A1147T:p.K383X;ENSG00000141644:ENST00000588937:exon10:c.A1078T:p.K360X;ENSG00000141644:ENST00000349085:exon11:c.A979T:p.K327X;ENSG00000141644:ENST00000436910:exon11:c.A1078T:p.K360X;ENSG00000141644:ENST00000269468:exon12:c.A1147T:p.K383X;ENSG00000141644:ENST00000398495:exon11:c.A1054T:p.K352X;ENSG00000141644:ENST00000585672:exon11:c.A997T:p.K333X;ENSG00000141644:ENST00000587605:exon11:c.A979T:p.K327X;	0.393402683097117	0.542
18	47800233	T	C	18	50273863	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.A979G:p.K327E;MBD1:NM_001204151:exon10:c.A1078G:p.K360E;MBD1:NM_001204137:exon13:c.A1222G:p.K408E;MBD1:NM_015845:exon11:c.A1078G:p.K360E;MBD1:NM_001204142:exon12:c.A1147G:p.K383E;MBD1:NM_001204143:exon11:c.A979G:p.K327E;MBD1:NM_015846:exon12:c.A1147G:p.K383E;MBD1:NM_001204140:exon12:c.A1054G:p.K352E;MBD1:NM_001204139:exon12:c.A1147G:p.K383E;MBD1:NM_015844:exon11:c.A979G:p.K327E;MBD1:NM_001204136:exon12:c.A1147G:p.K383E;MBD1:NM_015847:exon11:c.A1000G:p.K334E;MBD1:NM_001204141:exon11:c.A997G:p.K333E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.A1222G:p.K408E;ENSG00000141644:ENST00000424334:exon13:c.A1300G:p.K434E;ENSG00000141644:ENST00000591535:exon10:c.A1078G:p.K360E;ENSG00000141644:ENST00000398493:exon11:c.A979G:p.K327E;ENSG00000141644:ENST00000398488:exon10:c.A979G:p.K327E;ENSG00000141644:ENST00000353909:exon11:c.A1000G:p.K334E;ENSG00000141644:ENST00000339998:exon12:c.A1147G:p.K383E;ENSG00000141644:ENST00000589541:exon3:c.A97G:p.K33E;ENSG00000141644:ENST00000591416:exon12:c.A1147G:p.K383E;ENSG00000141644:ENST00000269471:exon11:c.A1078G:p.K360E;ENSG00000141644:ENST00000457839:exon13:c.A1222G:p.K408E;ENSG00000141644:ENST00000590208:exon12:c.A1147G:p.K383E;ENSG00000141644:ENST00000347968:exon11:c.A979G:p.K327E;ENSG00000141644:ENST00000382948:exon12:c.A1147G:p.K383E;ENSG00000141644:ENST00000588937:exon10:c.A1078G:p.K360E;ENSG00000141644:ENST00000349085:exon11:c.A979G:p.K327E;ENSG00000141644:ENST00000436910:exon11:c.A1078G:p.K360E;ENSG00000141644:ENST00000269468:exon12:c.A1147G:p.K383E;ENSG00000141644:ENST00000398495:exon11:c.A1054G:p.K352E;ENSG00000141644:ENST00000585672:exon11:c.A997G:p.K333E;ENSG00000141644:ENST00000587605:exon11:c.A979G:p.K327E;	0.554039289473754	0.488
18	47800233	T	G	18	50273863	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon11:c.A979C:p.K327Q;MBD1:NM_001204151:exon10:c.A1078C:p.K360Q;MBD1:NM_001204137:exon13:c.A1222C:p.K408Q;MBD1:NM_015845:exon11:c.A1078C:p.K360Q;MBD1:NM_001204142:exon12:c.A1147C:p.K383Q;MBD1:NM_001204143:exon11:c.A979C:p.K327Q;MBD1:NM_015846:exon12:c.A1147C:p.K383Q;MBD1:NM_001204140:exon12:c.A1054C:p.K352Q;MBD1:NM_001204139:exon12:c.A1147C:p.K383Q;MBD1:NM_015844:exon11:c.A979C:p.K327Q;MBD1:NM_001204136:exon12:c.A1147C:p.K383Q;MBD1:NM_015847:exon11:c.A1000C:p.K334Q;MBD1:NM_001204141:exon11:c.A997C:p.K333Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon13:c.A1222C:p.K408Q;ENSG00000141644:ENST00000424334:exon13:c.A1300C:p.K434Q;ENSG00000141644:ENST00000591535:exon10:c.A1078C:p.K360Q;ENSG00000141644:ENST00000398493:exon11:c.A979C:p.K327Q;ENSG00000141644:ENST00000398488:exon10:c.A979C:p.K327Q;ENSG00000141644:ENST00000353909:exon11:c.A1000C:p.K334Q;ENSG00000141644:ENST00000339998:exon12:c.A1147C:p.K383Q;ENSG00000141644:ENST00000589541:exon3:c.A97C:p.K33Q;ENSG00000141644:ENST00000591416:exon12:c.A1147C:p.K383Q;ENSG00000141644:ENST00000269471:exon11:c.A1078C:p.K360Q;ENSG00000141644:ENST00000457839:exon13:c.A1222C:p.K408Q;ENSG00000141644:ENST00000590208:exon12:c.A1147C:p.K383Q;ENSG00000141644:ENST00000347968:exon11:c.A979C:p.K327Q;ENSG00000141644:ENST00000382948:exon12:c.A1147C:p.K383Q;ENSG00000141644:ENST00000588937:exon10:c.A1078C:p.K360Q;ENSG00000141644:ENST00000349085:exon11:c.A979C:p.K327Q;ENSG00000141644:ENST00000436910:exon11:c.A1078C:p.K360Q;ENSG00000141644:ENST00000269468:exon12:c.A1147C:p.K383Q;ENSG00000141644:ENST00000398495:exon11:c.A1054C:p.K352Q;ENSG00000141644:ENST00000585672:exon11:c.A997C:p.K333Q;ENSG00000141644:ENST00000587605:exon11:c.A979C:p.K327Q;	0.250963946814703	0.47
18	47800234	C	A	18	50273864	y	y	splicing	MBD1(NM_001204139:exon13:c.1147-1G>T;NM_001204141:exon12:c.997-1G>T;NM_002384:exon12:c.979-1G>T;NM_015847:exon12:c.1000-1G>T;NM_015846:exon13:c.1147-1G>T;NM_015845:exon12:c.1078-1G>T;NM_001204136:exon13:c.1147-1G>T;NM_015844:exon12:c.979-1G>T;NM_001204143:exon12:c.979-1G>T;NM_001204142:exon13:c.1147-1G>T;NM_001204140:exon13:c.1054-1G>T;NM_001204137:exon14:c.1222-1G>T;NM_001204151:exon11:c.1078-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.997-1G>T;ENST00000592060:exon9:c.681-1G>T;ENST00000382948:exon13:c.1147-1G>T;ENST00000353909:exon12:c.1000-1G>T;ENST00000591416:exon13:c.1147-1G>T;ENST00000349085:exon12:c.979-1G>T;ENST00000436910:exon12:c.1078-1G>T;ENST00000347968:exon12:c.979-1G>T;ENST00000269468:exon13:c.1147-1G>T;ENST00000269471:exon12:c.1078-1G>T;ENST00000339998:exon13:c.1147-1G>T;ENST00000590208:exon13:c.1147-1G>T;ENST00000587605:exon12:c.979-1G>T;ENST00000588937:exon11:c.1078-1G>T;ENST00000424334:exon14:c.1300-1G>T;ENST00000585595:exon14:c.1222-1G>T;ENST00000589541:exon4:c.97-1G>T;ENST00000398495:exon12:c.1054-1G>T;ENST00000457839:exon14:c.1222-1G>T;ENST00000398493:exon12:c.979-1G>T;ENST00000591535:exon11:c.1078-1G>T;ENST00000398488:exon11:c.979-1G>T;ENST00000589733:exon7:c.512-1G>T)	.	.	0.999960200702261	0.928
18	47800234	C	G	18	50273864	y	y	splicing	MBD1(NM_001204139:exon13:c.1147-1G>C;NM_001204141:exon12:c.997-1G>C;NM_002384:exon12:c.979-1G>C;NM_015847:exon12:c.1000-1G>C;NM_015846:exon13:c.1147-1G>C;NM_015845:exon12:c.1078-1G>C;NM_001204136:exon13:c.1147-1G>C;NM_015844:exon12:c.979-1G>C;NM_001204143:exon12:c.979-1G>C;NM_001204142:exon13:c.1147-1G>C;NM_001204140:exon13:c.1054-1G>C;NM_001204137:exon14:c.1222-1G>C;NM_001204151:exon11:c.1078-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.997-1G>C;ENST00000592060:exon9:c.681-1G>C;ENST00000382948:exon13:c.1147-1G>C;ENST00000353909:exon12:c.1000-1G>C;ENST00000591416:exon13:c.1147-1G>C;ENST00000349085:exon12:c.979-1G>C;ENST00000436910:exon12:c.1078-1G>C;ENST00000347968:exon12:c.979-1G>C;ENST00000269468:exon13:c.1147-1G>C;ENST00000269471:exon12:c.1078-1G>C;ENST00000339998:exon13:c.1147-1G>C;ENST00000590208:exon13:c.1147-1G>C;ENST00000587605:exon12:c.979-1G>C;ENST00000588937:exon11:c.1078-1G>C;ENST00000424334:exon14:c.1300-1G>C;ENST00000585595:exon14:c.1222-1G>C;ENST00000589541:exon4:c.97-1G>C;ENST00000398495:exon12:c.1054-1G>C;ENST00000457839:exon14:c.1222-1G>C;ENST00000398493:exon12:c.979-1G>C;ENST00000591535:exon11:c.1078-1G>C;ENST00000398488:exon11:c.979-1G>C;ENST00000589733:exon7:c.512-1G>C)	.	.	0.999960200702261	0.928
18	47800234	C	T	18	50273864	y	y	splicing	MBD1(NM_001204139:exon13:c.1147-1G>A;NM_001204141:exon12:c.997-1G>A;NM_002384:exon12:c.979-1G>A;NM_015847:exon12:c.1000-1G>A;NM_015846:exon13:c.1147-1G>A;NM_015845:exon12:c.1078-1G>A;NM_001204136:exon13:c.1147-1G>A;NM_015844:exon12:c.979-1G>A;NM_001204143:exon12:c.979-1G>A;NM_001204142:exon13:c.1147-1G>A;NM_001204140:exon13:c.1054-1G>A;NM_001204137:exon14:c.1222-1G>A;NM_001204151:exon11:c.1078-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.997-1G>A;ENST00000592060:exon9:c.681-1G>A;ENST00000382948:exon13:c.1147-1G>A;ENST00000353909:exon12:c.1000-1G>A;ENST00000591416:exon13:c.1147-1G>A;ENST00000349085:exon12:c.979-1G>A;ENST00000436910:exon12:c.1078-1G>A;ENST00000347968:exon12:c.979-1G>A;ENST00000269468:exon13:c.1147-1G>A;ENST00000269471:exon12:c.1078-1G>A;ENST00000339998:exon13:c.1147-1G>A;ENST00000590208:exon13:c.1147-1G>A;ENST00000587605:exon12:c.979-1G>A;ENST00000588937:exon11:c.1078-1G>A;ENST00000424334:exon14:c.1300-1G>A;ENST00000585595:exon14:c.1222-1G>A;ENST00000589541:exon4:c.97-1G>A;ENST00000398495:exon12:c.1054-1G>A;ENST00000457839:exon14:c.1222-1G>A;ENST00000398493:exon12:c.979-1G>A;ENST00000591535:exon11:c.1078-1G>A;ENST00000398488:exon11:c.979-1G>A;ENST00000589733:exon7:c.512-1G>A)	.	.	0.999938990645747	0.93
18	47800235	T	A	18	50273865	y	y	splicing	MBD1(NM_001204139:exon13:c.1147-2A>T;NM_001204141:exon12:c.997-2A>T;NM_002384:exon12:c.979-2A>T;NM_015847:exon12:c.1000-2A>T;NM_015846:exon13:c.1147-2A>T;NM_015845:exon12:c.1078-2A>T;NM_001204136:exon13:c.1147-2A>T;NM_015844:exon12:c.979-2A>T;NM_001204143:exon12:c.979-2A>T;NM_001204142:exon13:c.1147-2A>T;NM_001204140:exon13:c.1054-2A>T;NM_001204137:exon14:c.1222-2A>T;NM_001204151:exon11:c.1078-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.997-2A>T;ENST00000592060:exon9:c.681-2A>T;ENST00000382948:exon13:c.1147-2A>T;ENST00000353909:exon12:c.1000-2A>T;ENST00000591416:exon13:c.1147-2A>T;ENST00000349085:exon12:c.979-2A>T;ENST00000436910:exon12:c.1078-2A>T;ENST00000347968:exon12:c.979-2A>T;ENST00000269468:exon13:c.1147-2A>T;ENST00000269471:exon12:c.1078-2A>T;ENST00000339998:exon13:c.1147-2A>T;ENST00000590208:exon13:c.1147-2A>T;ENST00000587605:exon12:c.979-2A>T;ENST00000588937:exon11:c.1078-2A>T;ENST00000424334:exon14:c.1300-2A>T;ENST00000585595:exon14:c.1222-2A>T;ENST00000589541:exon4:c.97-2A>T;ENST00000398495:exon12:c.1054-2A>T;ENST00000457839:exon14:c.1222-2A>T;ENST00000398493:exon12:c.979-2A>T;ENST00000591535:exon11:c.1078-2A>T;ENST00000398488:exon11:c.979-2A>T;ENST00000589733:exon7:c.512-2A>T)	.	.	0.99998491298609	0.894
18	47800235	T	C	18	50273865	y	y	splicing	MBD1(NM_001204139:exon13:c.1147-2A>G;NM_001204141:exon12:c.997-2A>G;NM_002384:exon12:c.979-2A>G;NM_015847:exon12:c.1000-2A>G;NM_015846:exon13:c.1147-2A>G;NM_015845:exon12:c.1078-2A>G;NM_001204136:exon13:c.1147-2A>G;NM_015844:exon12:c.979-2A>G;NM_001204143:exon12:c.979-2A>G;NM_001204142:exon13:c.1147-2A>G;NM_001204140:exon13:c.1054-2A>G;NM_001204137:exon14:c.1222-2A>G;NM_001204151:exon11:c.1078-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.997-2A>G;ENST00000592060:exon9:c.681-2A>G;ENST00000382948:exon13:c.1147-2A>G;ENST00000353909:exon12:c.1000-2A>G;ENST00000591416:exon13:c.1147-2A>G;ENST00000349085:exon12:c.979-2A>G;ENST00000436910:exon12:c.1078-2A>G;ENST00000347968:exon12:c.979-2A>G;ENST00000269468:exon13:c.1147-2A>G;ENST00000269471:exon12:c.1078-2A>G;ENST00000339998:exon13:c.1147-2A>G;ENST00000590208:exon13:c.1147-2A>G;ENST00000587605:exon12:c.979-2A>G;ENST00000588937:exon11:c.1078-2A>G;ENST00000424334:exon14:c.1300-2A>G;ENST00000585595:exon14:c.1222-2A>G;ENST00000589541:exon4:c.97-2A>G;ENST00000398495:exon12:c.1054-2A>G;ENST00000457839:exon14:c.1222-2A>G;ENST00000398493:exon12:c.979-2A>G;ENST00000591535:exon11:c.1078-2A>G;ENST00000398488:exon11:c.979-2A>G;ENST00000589733:exon7:c.512-2A>G)	.	.	0.99998491298609	0.886
18	47800235	T	G	18	50273865	y	y	splicing	MBD1(NM_001204139:exon13:c.1147-2A>C;NM_001204141:exon12:c.997-2A>C;NM_002384:exon12:c.979-2A>C;NM_015847:exon12:c.1000-2A>C;NM_015846:exon13:c.1147-2A>C;NM_015845:exon12:c.1078-2A>C;NM_001204136:exon13:c.1147-2A>C;NM_015844:exon12:c.979-2A>C;NM_001204143:exon12:c.979-2A>C;NM_001204142:exon13:c.1147-2A>C;NM_001204140:exon13:c.1054-2A>C;NM_001204137:exon14:c.1222-2A>C;NM_001204151:exon11:c.1078-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon12:c.997-2A>C;ENST00000592060:exon9:c.681-2A>C;ENST00000382948:exon13:c.1147-2A>C;ENST00000353909:exon12:c.1000-2A>C;ENST00000591416:exon13:c.1147-2A>C;ENST00000349085:exon12:c.979-2A>C;ENST00000436910:exon12:c.1078-2A>C;ENST00000347968:exon12:c.979-2A>C;ENST00000269468:exon13:c.1147-2A>C;ENST00000269471:exon12:c.1078-2A>C;ENST00000339998:exon13:c.1147-2A>C;ENST00000590208:exon13:c.1147-2A>C;ENST00000587605:exon12:c.979-2A>C;ENST00000588937:exon11:c.1078-2A>C;ENST00000424334:exon14:c.1300-2A>C;ENST00000585595:exon14:c.1222-2A>C;ENST00000589541:exon4:c.97-2A>C;ENST00000398495:exon12:c.1054-2A>C;ENST00000457839:exon14:c.1222-2A>C;ENST00000398493:exon12:c.979-2A>C;ENST00000591535:exon11:c.1078-2A>C;ENST00000398488:exon11:c.979-2A>C;ENST00000589733:exon7:c.512-2A>C)	.	.	0.99998491298609	0.89
18	47800236	A	C	18	50273866	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.962011183739269	0.71
18	47800236	A	G	18	50273866	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.12590658740534E-5	0.0
18	47800236	A	T	18	50273866	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0511934774685864	0.25
18	47800237	T	A	18	50273867	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.93978538772482E-6	0.01
18	47800237	T	C	18	50273867	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.35717869079522E-5	0.0
18	47800237	T	G	18	50273867	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.52414783397421E-6	0.004
18	47800238	G	A	18	50273868	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.15334460904184E-5	0.008
18	47800238	G	C	18	50273868	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.76295305021978E-4	0.216
18	47800238	G	T	18	50273868	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.41082070499008E-5	0.028
18	47800239	G	A	18	50273869	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.19890163493188E-5	0.074
18	47800239	G	C	18	50273869	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00355680595067742	0.176
18	47800239	G	T	18	50273869	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00120115959606306	0.11
18	47800240	G	A	18	50273870	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.7989310577411E-5	0.012
18	47800240	G	C	18	50273870	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.3926525616117E-4	0.176
18	47800240	G	T	18	50273870	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00183779047090271	0.178
18	47800241	G	A	18	50273871	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.62463911040188E-5	0.03
18	47800241	G	C	18	50273871	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.61864503683204E-4	0.026
18	47800241	G	T	18	50273871	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.91787243905904E-4	0.162
18	47800242	A	C	18	50273872	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.49683602147592E-4	0.13
18	47800242	A	G	18	50273872	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.02936988953809E-5	0.004
18	47800242	A	T	18	50273872	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.5138774907598E-4	0.094
18	47800243	A	C	18	50273873	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.91918195240434E-5	0.178
18	47800243	A	G	18	50273873	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.87010628754916E-5	0.014
18	47800243	A	T	18	50273873	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.56757285895201E-4	0.124
18	47800244	A	C	18	50273874	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0413033437144913	0.386
18	47800244	A	G	18	50273874	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00779232540785893	0.172
18	47800244	A	T	18	50273874	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0209535345806413	0.378
18	47800245	G	A	18	50273875	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.15387339175073E-5	0.012
18	47800245	G	C	18	50273875	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.67000860961973E-5	0.024
18	47800245	G	T	18	50273875	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0010984727847166	0.054
18	47800548	C	A	18	50274178	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.02071129722712E-4	0.042
18	47800548	C	G	18	50274178	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.59199496872093E-4	0.068
18	47800548	C	T	18	50274178	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.81979076518336E-4	0.018
18	47800549	C	A	18	50274179	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00103053597514411	0.072
18	47800549	C	G	18	50274179	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00721038522416436	0.078
18	47800549	C	T	18	50274179	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00867815606166266	0.176
18	47800550	A	C	18	50274180	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.986224969397598	0.906
18	47800550	A	G	18	50274180	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.977191504199055	0.768
18	47800550	A	T	18	50274180	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.993106153178405	0.726
18	47800551	C	A	18	50274181	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999979947182598	0.95
18	47800551	C	G	18	50274181	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999979947182598	0.98
18	47800551	C	T	18	50274181	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999979760570024	0.962
18	47800552	C	A	18	50274182	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0102814751809792	0.134
18	47800552	C	G	18	50274182	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00341969411183825	0.292
18	47800552	C	T	18	50274182	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.82222369369483E-4	0.052
18	47800553	C	A	18	50274183	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0569428991324397	0.558
18	47800553	C	G	18	50274183	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.904578836568044	0.738
18	47800553	C	T	18	50274183	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00118771245800883	0.098
18	47800554	A	C	18	50274184	y	y	splicing	MBD1(NM_001204139:exon12:c.1146+2T>G;NM_001204141:exon11:c.996+2T>G;NM_015847:exon11:c.999+2T>G;NM_015846:exon12:c.1146+2T>G;NM_015845:exon11:c.1077+2T>G;NM_001204136:exon12:c.1146+2T>G;NM_001204142:exon12:c.1146+2T>G;NM_001204138:exon13:c.1221+2T>G;NM_001204137:exon13:c.1221+2T>G;NM_001204151:exon10:c.1077+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon11:c.996+2T>G;ENST00000382948:exon12:c.1146+2T>G;ENST00000353909:exon11:c.999+2T>G;ENST00000591416:exon12:c.1146+2T>G;ENST00000436910:exon11:c.1077+2T>G;ENST00000269468:exon12:c.1146+2T>G;ENST00000269471:exon11:c.1077+2T>G;ENST00000339998:exon12:c.1146+2T>G;ENST00000590208:exon12:c.1146+2T>G;ENST00000588937:exon10:c.1077+2T>G;ENST00000424334:exon13:c.1299+2T>G;ENST00000585595:exon13:c.1221+2T>G;ENST00000457839:exon13:c.1221+2T>G;ENST00000591535:exon10:c.1077+2T>G)	.	.	0.999992007541056	0.926
18	47800554	A	G	18	50274184	y	y	splicing	MBD1(NM_001204139:exon12:c.1146+2T>C;NM_001204141:exon11:c.996+2T>C;NM_015847:exon11:c.999+2T>C;NM_015846:exon12:c.1146+2T>C;NM_015845:exon11:c.1077+2T>C;NM_001204136:exon12:c.1146+2T>C;NM_001204142:exon12:c.1146+2T>C;NM_001204138:exon13:c.1221+2T>C;NM_001204137:exon13:c.1221+2T>C;NM_001204151:exon10:c.1077+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon11:c.996+2T>C;ENST00000382948:exon12:c.1146+2T>C;ENST00000353909:exon11:c.999+2T>C;ENST00000591416:exon12:c.1146+2T>C;ENST00000436910:exon11:c.1077+2T>C;ENST00000269468:exon12:c.1146+2T>C;ENST00000269471:exon11:c.1077+2T>C;ENST00000339998:exon12:c.1146+2T>C;ENST00000590208:exon12:c.1146+2T>C;ENST00000588937:exon10:c.1077+2T>C;ENST00000424334:exon13:c.1299+2T>C;ENST00000585595:exon13:c.1221+2T>C;ENST00000457839:exon13:c.1221+2T>C;ENST00000591535:exon10:c.1077+2T>C)	.	.	0.999857694139783	0.878
18	47800554	A	T	18	50274184	y	y	splicing	MBD1(NM_001204139:exon12:c.1146+2T>A;NM_001204141:exon11:c.996+2T>A;NM_015847:exon11:c.999+2T>A;NM_015846:exon12:c.1146+2T>A;NM_015845:exon11:c.1077+2T>A;NM_001204136:exon12:c.1146+2T>A;NM_001204142:exon12:c.1146+2T>A;NM_001204138:exon13:c.1221+2T>A;NM_001204137:exon13:c.1221+2T>A;NM_001204151:exon10:c.1077+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon11:c.996+2T>A;ENST00000382948:exon12:c.1146+2T>A;ENST00000353909:exon11:c.999+2T>A;ENST00000591416:exon12:c.1146+2T>A;ENST00000436910:exon11:c.1077+2T>A;ENST00000269468:exon12:c.1146+2T>A;ENST00000269471:exon11:c.1077+2T>A;ENST00000339998:exon12:c.1146+2T>A;ENST00000590208:exon12:c.1146+2T>A;ENST00000588937:exon10:c.1077+2T>A;ENST00000424334:exon13:c.1299+2T>A;ENST00000585595:exon13:c.1221+2T>A;ENST00000457839:exon13:c.1221+2T>A;ENST00000591535:exon10:c.1077+2T>A)	.	.	0.999992007541056	0.926
18	47800555	C	A	18	50274185	y	y	splicing	MBD1(NM_001204139:exon12:c.1146+1G>T;NM_001204141:exon11:c.996+1G>T;NM_015847:exon11:c.999+1G>T;NM_015846:exon12:c.1146+1G>T;NM_015845:exon11:c.1077+1G>T;NM_001204136:exon12:c.1146+1G>T;NM_001204142:exon12:c.1146+1G>T;NM_001204138:exon13:c.1221+1G>T;NM_001204137:exon13:c.1221+1G>T;NM_001204151:exon10:c.1077+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon11:c.996+1G>T;ENST00000382948:exon12:c.1146+1G>T;ENST00000353909:exon11:c.999+1G>T;ENST00000591416:exon12:c.1146+1G>T;ENST00000436910:exon11:c.1077+1G>T;ENST00000269468:exon12:c.1146+1G>T;ENST00000269471:exon11:c.1077+1G>T;ENST00000339998:exon12:c.1146+1G>T;ENST00000590208:exon12:c.1146+1G>T;ENST00000588937:exon10:c.1077+1G>T;ENST00000424334:exon13:c.1299+1G>T;ENST00000585595:exon13:c.1221+1G>T;ENST00000457839:exon13:c.1221+1G>T;ENST00000591535:exon10:c.1077+1G>T)	.	.	0.999992568075586	0.924
18	47800555	C	G	18	50274185	y	y	splicing	MBD1(NM_001204139:exon12:c.1146+1G>C;NM_001204141:exon11:c.996+1G>C;NM_015847:exon11:c.999+1G>C;NM_015846:exon12:c.1146+1G>C;NM_015845:exon11:c.1077+1G>C;NM_001204136:exon12:c.1146+1G>C;NM_001204142:exon12:c.1146+1G>C;NM_001204138:exon13:c.1221+1G>C;NM_001204137:exon13:c.1221+1G>C;NM_001204151:exon10:c.1077+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon11:c.996+1G>C;ENST00000382948:exon12:c.1146+1G>C;ENST00000353909:exon11:c.999+1G>C;ENST00000591416:exon12:c.1146+1G>C;ENST00000436910:exon11:c.1077+1G>C;ENST00000269468:exon12:c.1146+1G>C;ENST00000269471:exon11:c.1077+1G>C;ENST00000339998:exon12:c.1146+1G>C;ENST00000590208:exon12:c.1146+1G>C;ENST00000588937:exon10:c.1077+1G>C;ENST00000424334:exon13:c.1299+1G>C;ENST00000585595:exon13:c.1221+1G>C;ENST00000457839:exon13:c.1221+1G>C;ENST00000591535:exon10:c.1077+1G>C)	.	.	0.999992568075586	0.924
18	47800555	C	T	18	50274185	y	y	splicing	MBD1(NM_001204139:exon12:c.1146+1G>A;NM_001204141:exon11:c.996+1G>A;NM_015847:exon11:c.999+1G>A;NM_015846:exon12:c.1146+1G>A;NM_015845:exon11:c.1077+1G>A;NM_001204136:exon12:c.1146+1G>A;NM_001204142:exon12:c.1146+1G>A;NM_001204138:exon13:c.1221+1G>A;NM_001204137:exon13:c.1221+1G>A;NM_001204151:exon10:c.1077+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon11:c.996+1G>A;ENST00000382948:exon12:c.1146+1G>A;ENST00000353909:exon11:c.999+1G>A;ENST00000591416:exon12:c.1146+1G>A;ENST00000436910:exon11:c.1077+1G>A;ENST00000269468:exon12:c.1146+1G>A;ENST00000269471:exon11:c.1077+1G>A;ENST00000339998:exon12:c.1146+1G>A;ENST00000590208:exon12:c.1146+1G>A;ENST00000588937:exon10:c.1077+1G>A;ENST00000424334:exon13:c.1299+1G>A;ENST00000585595:exon13:c.1221+1G>A;ENST00000457839:exon13:c.1221+1G>A;ENST00000591535:exon10:c.1077+1G>A)	.	.	0.999992568075586	0.924
18	47800556	C	A	18	50274186	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.G1077T:p.M359I;MBD1:NM_001204137:exon12:c.G1221T:p.M407I;MBD1:NM_015845:exon10:c.G1077T:p.M359I;MBD1:NM_001204142:exon11:c.G1146T:p.M382I;MBD1:NM_001204138:exon12:c.G1221T:p.M407I;MBD1:NM_015846:exon11:c.G1146T:p.M382I;MBD1:NM_001204139:exon11:c.G1146T:p.M382I;MBD1:NM_001204136:exon11:c.G1146T:p.M382I;MBD1:NM_015847:exon10:c.G999T:p.M333I;MBD1:NM_001204141:exon10:c.G996T:p.M332I;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.G1221T:p.M407I;ENSG00000141644:ENST00000424334:exon12:c.G1299T:p.M433I;ENSG00000141644:ENST00000591535:exon9:c.G1077T:p.M359I;ENSG00000141644:ENST00000353909:exon10:c.G999T:p.M333I;ENSG00000141644:ENST00000339998:exon11:c.G1146T:p.M382I;ENSG00000141644:ENST00000591416:exon11:c.G1146T:p.M382I;ENSG00000141644:ENST00000269471:exon10:c.G1077T:p.M359I;ENSG00000141644:ENST00000457839:exon12:c.G1221T:p.M407I;ENSG00000141644:ENST00000590208:exon11:c.G1146T:p.M382I;ENSG00000141644:ENST00000382948:exon11:c.G1146T:p.M382I;ENSG00000141644:ENST00000588937:exon9:c.G1077T:p.M359I;ENSG00000141644:ENST00000436910:exon10:c.G1077T:p.M359I;ENSG00000141644:ENST00000269468:exon11:c.G1146T:p.M382I;ENSG00000141644:ENST00000585672:exon10:c.G996T:p.M332I;	0.999995294863129	0.99
18	47800556	C	G	18	50274186	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.G1077C:p.M359I;MBD1:NM_001204137:exon12:c.G1221C:p.M407I;MBD1:NM_015845:exon10:c.G1077C:p.M359I;MBD1:NM_001204142:exon11:c.G1146C:p.M382I;MBD1:NM_001204138:exon12:c.G1221C:p.M407I;MBD1:NM_015846:exon11:c.G1146C:p.M382I;MBD1:NM_001204139:exon11:c.G1146C:p.M382I;MBD1:NM_001204136:exon11:c.G1146C:p.M382I;MBD1:NM_015847:exon10:c.G999C:p.M333I;MBD1:NM_001204141:exon10:c.G996C:p.M332I;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.G1221C:p.M407I;ENSG00000141644:ENST00000424334:exon12:c.G1299C:p.M433I;ENSG00000141644:ENST00000591535:exon9:c.G1077C:p.M359I;ENSG00000141644:ENST00000353909:exon10:c.G999C:p.M333I;ENSG00000141644:ENST00000339998:exon11:c.G1146C:p.M382I;ENSG00000141644:ENST00000591416:exon11:c.G1146C:p.M382I;ENSG00000141644:ENST00000269471:exon10:c.G1077C:p.M359I;ENSG00000141644:ENST00000457839:exon12:c.G1221C:p.M407I;ENSG00000141644:ENST00000590208:exon11:c.G1146C:p.M382I;ENSG00000141644:ENST00000382948:exon11:c.G1146C:p.M382I;ENSG00000141644:ENST00000588937:exon9:c.G1077C:p.M359I;ENSG00000141644:ENST00000436910:exon10:c.G1077C:p.M359I;ENSG00000141644:ENST00000269468:exon11:c.G1146C:p.M382I;ENSG00000141644:ENST00000585672:exon10:c.G996C:p.M332I;	0.999997647695062	0.996
18	47800556	C	T	18	50274186	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.G1077A:p.M359I;MBD1:NM_001204137:exon12:c.G1221A:p.M407I;MBD1:NM_015845:exon10:c.G1077A:p.M359I;MBD1:NM_001204142:exon11:c.G1146A:p.M382I;MBD1:NM_001204138:exon12:c.G1221A:p.M407I;MBD1:NM_015846:exon11:c.G1146A:p.M382I;MBD1:NM_001204139:exon11:c.G1146A:p.M382I;MBD1:NM_001204136:exon11:c.G1146A:p.M382I;MBD1:NM_015847:exon10:c.G999A:p.M333I;MBD1:NM_001204141:exon10:c.G996A:p.M332I;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.G1221A:p.M407I;ENSG00000141644:ENST00000424334:exon12:c.G1299A:p.M433I;ENSG00000141644:ENST00000591535:exon9:c.G1077A:p.M359I;ENSG00000141644:ENST00000353909:exon10:c.G999A:p.M333I;ENSG00000141644:ENST00000339998:exon11:c.G1146A:p.M382I;ENSG00000141644:ENST00000591416:exon11:c.G1146A:p.M382I;ENSG00000141644:ENST00000269471:exon10:c.G1077A:p.M359I;ENSG00000141644:ENST00000457839:exon12:c.G1221A:p.M407I;ENSG00000141644:ENST00000590208:exon11:c.G1146A:p.M382I;ENSG00000141644:ENST00000382948:exon11:c.G1146A:p.M382I;ENSG00000141644:ENST00000588937:exon9:c.G1077A:p.M359I;ENSG00000141644:ENST00000436910:exon10:c.G1077A:p.M359I;ENSG00000141644:ENST00000269468:exon11:c.G1146A:p.M382I;ENSG00000141644:ENST00000585672:exon10:c.G996A:p.M332I;	0.999997739401583	0.996
18	47800557	A	C	18	50274187	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.T1076G:p.M359R;MBD1:NM_001204137:exon12:c.T1220G:p.M407R;MBD1:NM_015845:exon10:c.T1076G:p.M359R;MBD1:NM_001204142:exon11:c.T1145G:p.M382R;MBD1:NM_001204138:exon12:c.T1220G:p.M407R;MBD1:NM_015846:exon11:c.T1145G:p.M382R;MBD1:NM_001204139:exon11:c.T1145G:p.M382R;MBD1:NM_001204136:exon11:c.T1145G:p.M382R;MBD1:NM_015847:exon10:c.T998G:p.M333R;MBD1:NM_001204141:exon10:c.T995G:p.M332R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.T1220G:p.M407R;ENSG00000141644:ENST00000424334:exon12:c.T1298G:p.M433R;ENSG00000141644:ENST00000591535:exon9:c.T1076G:p.M359R;ENSG00000141644:ENST00000353909:exon10:c.T998G:p.M333R;ENSG00000141644:ENST00000339998:exon11:c.T1145G:p.M382R;ENSG00000141644:ENST00000591416:exon11:c.T1145G:p.M382R;ENSG00000141644:ENST00000269471:exon10:c.T1076G:p.M359R;ENSG00000141644:ENST00000457839:exon12:c.T1220G:p.M407R;ENSG00000141644:ENST00000590208:exon11:c.T1145G:p.M382R;ENSG00000141644:ENST00000382948:exon11:c.T1145G:p.M382R;ENSG00000141644:ENST00000588937:exon9:c.T1076G:p.M359R;ENSG00000141644:ENST00000436910:exon10:c.T1076G:p.M359R;ENSG00000141644:ENST00000269468:exon11:c.T1145G:p.M382R;ENSG00000141644:ENST00000585672:exon10:c.T995G:p.M332R;	0.953746829178211	0.786
18	47800557	A	G	18	50274187	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.T1076C:p.M359T;MBD1:NM_001204137:exon12:c.T1220C:p.M407T;MBD1:NM_015845:exon10:c.T1076C:p.M359T;MBD1:NM_001204142:exon11:c.T1145C:p.M382T;MBD1:NM_001204138:exon12:c.T1220C:p.M407T;MBD1:NM_015846:exon11:c.T1145C:p.M382T;MBD1:NM_001204139:exon11:c.T1145C:p.M382T;MBD1:NM_001204136:exon11:c.T1145C:p.M382T;MBD1:NM_015847:exon10:c.T998C:p.M333T;MBD1:NM_001204141:exon10:c.T995C:p.M332T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.T1220C:p.M407T;ENSG00000141644:ENST00000424334:exon12:c.T1298C:p.M433T;ENSG00000141644:ENST00000591535:exon9:c.T1076C:p.M359T;ENSG00000141644:ENST00000353909:exon10:c.T998C:p.M333T;ENSG00000141644:ENST00000339998:exon11:c.T1145C:p.M382T;ENSG00000141644:ENST00000591416:exon11:c.T1145C:p.M382T;ENSG00000141644:ENST00000269471:exon10:c.T1076C:p.M359T;ENSG00000141644:ENST00000457839:exon12:c.T1220C:p.M407T;ENSG00000141644:ENST00000590208:exon11:c.T1145C:p.M382T;ENSG00000141644:ENST00000382948:exon11:c.T1145C:p.M382T;ENSG00000141644:ENST00000588937:exon9:c.T1076C:p.M359T;ENSG00000141644:ENST00000436910:exon10:c.T1076C:p.M359T;ENSG00000141644:ENST00000269468:exon11:c.T1145C:p.M382T;ENSG00000141644:ENST00000585672:exon10:c.T995C:p.M332T;	0.963619587189099	0.81
18	47800557	A	T	18	50274187	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.T1076A:p.M359K;MBD1:NM_001204137:exon12:c.T1220A:p.M407K;MBD1:NM_015845:exon10:c.T1076A:p.M359K;MBD1:NM_001204142:exon11:c.T1145A:p.M382K;MBD1:NM_001204138:exon12:c.T1220A:p.M407K;MBD1:NM_015846:exon11:c.T1145A:p.M382K;MBD1:NM_001204139:exon11:c.T1145A:p.M382K;MBD1:NM_001204136:exon11:c.T1145A:p.M382K;MBD1:NM_015847:exon10:c.T998A:p.M333K;MBD1:NM_001204141:exon10:c.T995A:p.M332K;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.T1220A:p.M407K;ENSG00000141644:ENST00000424334:exon12:c.T1298A:p.M433K;ENSG00000141644:ENST00000591535:exon9:c.T1076A:p.M359K;ENSG00000141644:ENST00000353909:exon10:c.T998A:p.M333K;ENSG00000141644:ENST00000339998:exon11:c.T1145A:p.M382K;ENSG00000141644:ENST00000591416:exon11:c.T1145A:p.M382K;ENSG00000141644:ENST00000269471:exon10:c.T1076A:p.M359K;ENSG00000141644:ENST00000457839:exon12:c.T1220A:p.M407K;ENSG00000141644:ENST00000590208:exon11:c.T1145A:p.M382K;ENSG00000141644:ENST00000382948:exon11:c.T1145A:p.M382K;ENSG00000141644:ENST00000588937:exon9:c.T1076A:p.M359K;ENSG00000141644:ENST00000436910:exon10:c.T1076A:p.M359K;ENSG00000141644:ENST00000269468:exon11:c.T1145A:p.M382K;ENSG00000141644:ENST00000585672:exon10:c.T995A:p.M332K;	0.726302421235396	0.628
18	47800558	T	A	18	50274188	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.A1075T:p.M359L;MBD1:NM_001204137:exon12:c.A1219T:p.M407L;MBD1:NM_015845:exon10:c.A1075T:p.M359L;MBD1:NM_001204142:exon11:c.A1144T:p.M382L;MBD1:NM_001204138:exon12:c.A1219T:p.M407L;MBD1:NM_015846:exon11:c.A1144T:p.M382L;MBD1:NM_001204139:exon11:c.A1144T:p.M382L;MBD1:NM_001204136:exon11:c.A1144T:p.M382L;MBD1:NM_015847:exon10:c.A997T:p.M333L;MBD1:NM_001204141:exon10:c.A994T:p.M332L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.A1219T:p.M407L;ENSG00000141644:ENST00000424334:exon12:c.A1297T:p.M433L;ENSG00000141644:ENST00000591535:exon9:c.A1075T:p.M359L;ENSG00000141644:ENST00000353909:exon10:c.A997T:p.M333L;ENSG00000141644:ENST00000339998:exon11:c.A1144T:p.M382L;ENSG00000141644:ENST00000591416:exon11:c.A1144T:p.M382L;ENSG00000141644:ENST00000269471:exon10:c.A1075T:p.M359L;ENSG00000141644:ENST00000457839:exon12:c.A1219T:p.M407L;ENSG00000141644:ENST00000590208:exon11:c.A1144T:p.M382L;ENSG00000141644:ENST00000382948:exon11:c.A1144T:p.M382L;ENSG00000141644:ENST00000588937:exon9:c.A1075T:p.M359L;ENSG00000141644:ENST00000436910:exon10:c.A1075T:p.M359L;ENSG00000141644:ENST00000269468:exon11:c.A1144T:p.M382L;ENSG00000141644:ENST00000585672:exon10:c.A994T:p.M332L;	0.978624802423481	0.672
18	47800558	T	C	18	50274188	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.A1075G:p.M359V;MBD1:NM_001204137:exon12:c.A1219G:p.M407V;MBD1:NM_015845:exon10:c.A1075G:p.M359V;MBD1:NM_001204142:exon11:c.A1144G:p.M382V;MBD1:NM_001204138:exon12:c.A1219G:p.M407V;MBD1:NM_015846:exon11:c.A1144G:p.M382V;MBD1:NM_001204139:exon11:c.A1144G:p.M382V;MBD1:NM_001204136:exon11:c.A1144G:p.M382V;MBD1:NM_015847:exon10:c.A997G:p.M333V;MBD1:NM_001204141:exon10:c.A994G:p.M332V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.A1219G:p.M407V;ENSG00000141644:ENST00000424334:exon12:c.A1297G:p.M433V;ENSG00000141644:ENST00000591535:exon9:c.A1075G:p.M359V;ENSG00000141644:ENST00000353909:exon10:c.A997G:p.M333V;ENSG00000141644:ENST00000339998:exon11:c.A1144G:p.M382V;ENSG00000141644:ENST00000591416:exon11:c.A1144G:p.M382V;ENSG00000141644:ENST00000269471:exon10:c.A1075G:p.M359V;ENSG00000141644:ENST00000457839:exon12:c.A1219G:p.M407V;ENSG00000141644:ENST00000590208:exon11:c.A1144G:p.M382V;ENSG00000141644:ENST00000382948:exon11:c.A1144G:p.M382V;ENSG00000141644:ENST00000588937:exon9:c.A1075G:p.M359V;ENSG00000141644:ENST00000436910:exon10:c.A1075G:p.M359V;ENSG00000141644:ENST00000269468:exon11:c.A1144G:p.M382V;ENSG00000141644:ENST00000585672:exon10:c.A994G:p.M332V;	0.541788852757221	0.404
18	47800558	T	G	18	50274188	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.A1075C:p.M359L;MBD1:NM_001204137:exon12:c.A1219C:p.M407L;MBD1:NM_015845:exon10:c.A1075C:p.M359L;MBD1:NM_001204142:exon11:c.A1144C:p.M382L;MBD1:NM_001204138:exon12:c.A1219C:p.M407L;MBD1:NM_015846:exon11:c.A1144C:p.M382L;MBD1:NM_001204139:exon11:c.A1144C:p.M382L;MBD1:NM_001204136:exon11:c.A1144C:p.M382L;MBD1:NM_015847:exon10:c.A997C:p.M333L;MBD1:NM_001204141:exon10:c.A994C:p.M332L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.A1219C:p.M407L;ENSG00000141644:ENST00000424334:exon12:c.A1297C:p.M433L;ENSG00000141644:ENST00000591535:exon9:c.A1075C:p.M359L;ENSG00000141644:ENST00000353909:exon10:c.A997C:p.M333L;ENSG00000141644:ENST00000339998:exon11:c.A1144C:p.M382L;ENSG00000141644:ENST00000591416:exon11:c.A1144C:p.M382L;ENSG00000141644:ENST00000269471:exon10:c.A1075C:p.M359L;ENSG00000141644:ENST00000457839:exon12:c.A1219C:p.M407L;ENSG00000141644:ENST00000590208:exon11:c.A1144C:p.M382L;ENSG00000141644:ENST00000382948:exon11:c.A1144C:p.M382L;ENSG00000141644:ENST00000588937:exon9:c.A1075C:p.M359L;ENSG00000141644:ENST00000436910:exon10:c.A1075C:p.M359L;ENSG00000141644:ENST00000269468:exon11:c.A1144C:p.M382L;ENSG00000141644:ENST00000585672:exon10:c.A994C:p.M332L;	0.0927814811443679	0.284
18	47800722	T	A	18	50274352	y	y	exonic;splicing	MBD1;MBD1(NM_001204141:exon11:c.832-2A>T)	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.A911T:p.Q304L;MBD1:NM_001204137:exon12:c.A1055T:p.Q352L;MBD1:NM_015845:exon10:c.A911T:p.Q304L;MBD1:NM_001204142:exon11:c.A980T:p.Q327L;MBD1:NM_001204138:exon12:c.A1055T:p.Q352L;MBD1:NM_015846:exon11:c.A980T:p.Q327L;MBD1:NM_001204139:exon11:c.A980T:p.Q327L;MBD1:NM_001204136:exon11:c.A980T:p.Q327L;MBD1:NM_015847:exon10:c.A833T:p.Q278L;	exonic;splicing	ENSG00000141644;ENSG00000141644(ENST00000585672:exon11:c.832-2A>T)	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.A1055T:p.Q352L;ENSG00000141644:ENST00000424334:exon12:c.A1133T:p.Q378L;ENSG00000141644:ENST00000591535:exon9:c.A911T:p.Q304L;ENSG00000141644:ENST00000353909:exon10:c.A833T:p.Q278L;ENSG00000141644:ENST00000339998:exon11:c.A980T:p.Q327L;ENSG00000141644:ENST00000591416:exon11:c.A980T:p.Q327L;ENSG00000141644:ENST00000269471:exon10:c.A911T:p.Q304L;ENSG00000141644:ENST00000457839:exon12:c.A1055T:p.Q352L;ENSG00000141644:ENST00000590208:exon11:c.A980T:p.Q327L;ENSG00000141644:ENST00000382948:exon11:c.A980T:p.Q327L;ENSG00000141644:ENST00000588937:exon9:c.A911T:p.Q304L;ENSG00000141644:ENST00000436910:exon10:c.A911T:p.Q304L;ENSG00000141644:ENST00000269468:exon11:c.A980T:p.Q327L;	0.902802139845207	0.67
18	47800722	T	C	18	50274352	y	y	exonic;splicing	MBD1;MBD1(NM_001204141:exon11:c.832-2A>G)	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.A911G:p.Q304R;MBD1:NM_001204137:exon12:c.A1055G:p.Q352R;MBD1:NM_015845:exon10:c.A911G:p.Q304R;MBD1:NM_001204142:exon11:c.A980G:p.Q327R;MBD1:NM_001204138:exon12:c.A1055G:p.Q352R;MBD1:NM_015846:exon11:c.A980G:p.Q327R;MBD1:NM_001204139:exon11:c.A980G:p.Q327R;MBD1:NM_001204136:exon11:c.A980G:p.Q327R;MBD1:NM_015847:exon10:c.A833G:p.Q278R;	exonic;splicing	ENSG00000141644;ENSG00000141644(ENST00000585672:exon11:c.832-2A>G)	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.A1055G:p.Q352R;ENSG00000141644:ENST00000424334:exon12:c.A1133G:p.Q378R;ENSG00000141644:ENST00000591535:exon9:c.A911G:p.Q304R;ENSG00000141644:ENST00000353909:exon10:c.A833G:p.Q278R;ENSG00000141644:ENST00000339998:exon11:c.A980G:p.Q327R;ENSG00000141644:ENST00000591416:exon11:c.A980G:p.Q327R;ENSG00000141644:ENST00000269471:exon10:c.A911G:p.Q304R;ENSG00000141644:ENST00000457839:exon12:c.A1055G:p.Q352R;ENSG00000141644:ENST00000590208:exon11:c.A980G:p.Q327R;ENSG00000141644:ENST00000382948:exon11:c.A980G:p.Q327R;ENSG00000141644:ENST00000588937:exon9:c.A911G:p.Q304R;ENSG00000141644:ENST00000436910:exon10:c.A911G:p.Q304R;ENSG00000141644:ENST00000269468:exon11:c.A980G:p.Q327R;	0.939760693341597	0.666
18	47800722	T	G	18	50274352	y	y	exonic;splicing	MBD1;MBD1(NM_001204141:exon11:c.832-2A>C)	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.A911C:p.Q304P;MBD1:NM_001204137:exon12:c.A1055C:p.Q352P;MBD1:NM_015845:exon10:c.A911C:p.Q304P;MBD1:NM_001204142:exon11:c.A980C:p.Q327P;MBD1:NM_001204138:exon12:c.A1055C:p.Q352P;MBD1:NM_015846:exon11:c.A980C:p.Q327P;MBD1:NM_001204139:exon11:c.A980C:p.Q327P;MBD1:NM_001204136:exon11:c.A980C:p.Q327P;MBD1:NM_015847:exon10:c.A833C:p.Q278P;	exonic;splicing	ENSG00000141644;ENSG00000141644(ENST00000585672:exon11:c.832-2A>C)	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.A1055C:p.Q352P;ENSG00000141644:ENST00000424334:exon12:c.A1133C:p.Q378P;ENSG00000141644:ENST00000591535:exon9:c.A911C:p.Q304P;ENSG00000141644:ENST00000353909:exon10:c.A833C:p.Q278P;ENSG00000141644:ENST00000339998:exon11:c.A980C:p.Q327P;ENSG00000141644:ENST00000591416:exon11:c.A980C:p.Q327P;ENSG00000141644:ENST00000269471:exon10:c.A911C:p.Q304P;ENSG00000141644:ENST00000457839:exon12:c.A1055C:p.Q352P;ENSG00000141644:ENST00000590208:exon11:c.A980C:p.Q327P;ENSG00000141644:ENST00000382948:exon11:c.A980C:p.Q327P;ENSG00000141644:ENST00000588937:exon9:c.A911C:p.Q304P;ENSG00000141644:ENST00000436910:exon10:c.A911C:p.Q304P;ENSG00000141644:ENST00000269468:exon11:c.A980C:p.Q327P;	0.943609523130265	0.814
18	47800723	G	A	18	50274353	y	y	exonic	MBD1	stopgain SNV	MBD1:NM_001204151:exon9:c.C910T:p.Q304X;MBD1:NM_001204137:exon12:c.C1054T:p.Q352X;MBD1:NM_015845:exon10:c.C910T:p.Q304X;MBD1:NM_001204142:exon11:c.C979T:p.Q327X;MBD1:NM_001204138:exon12:c.C1054T:p.Q352X;MBD1:NM_015846:exon11:c.C979T:p.Q327X;MBD1:NM_001204139:exon11:c.C979T:p.Q327X;MBD1:NM_001204136:exon11:c.C979T:p.Q327X;MBD1:NM_015847:exon10:c.C832T:p.Q278X;	exonic	ENSG00000141644	stopgain SNV	ENSG00000141644:ENST00000585595:exon12:c.C1054T:p.Q352X;ENSG00000141644:ENST00000424334:exon12:c.C1132T:p.Q378X;ENSG00000141644:ENST00000591535:exon9:c.C910T:p.Q304X;ENSG00000141644:ENST00000353909:exon10:c.C832T:p.Q278X;ENSG00000141644:ENST00000339998:exon11:c.C979T:p.Q327X;ENSG00000141644:ENST00000591416:exon11:c.C979T:p.Q327X;ENSG00000141644:ENST00000269471:exon10:c.C910T:p.Q304X;ENSG00000141644:ENST00000457839:exon12:c.C1054T:p.Q352X;ENSG00000141644:ENST00000590208:exon11:c.C979T:p.Q327X;ENSG00000141644:ENST00000382948:exon11:c.C979T:p.Q327X;ENSG00000141644:ENST00000588937:exon9:c.C910T:p.Q304X;ENSG00000141644:ENST00000436910:exon10:c.C910T:p.Q304X;ENSG00000141644:ENST00000269468:exon11:c.C979T:p.Q327X;	0.996808426395668	0.914
18	47800723	G	C	18	50274353	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.C910G:p.Q304E;MBD1:NM_001204137:exon12:c.C1054G:p.Q352E;MBD1:NM_015845:exon10:c.C910G:p.Q304E;MBD1:NM_001204142:exon11:c.C979G:p.Q327E;MBD1:NM_001204138:exon12:c.C1054G:p.Q352E;MBD1:NM_015846:exon11:c.C979G:p.Q327E;MBD1:NM_001204139:exon11:c.C979G:p.Q327E;MBD1:NM_001204136:exon11:c.C979G:p.Q327E;MBD1:NM_015847:exon10:c.C832G:p.Q278E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.C1054G:p.Q352E;ENSG00000141644:ENST00000424334:exon12:c.C1132G:p.Q378E;ENSG00000141644:ENST00000591535:exon9:c.C910G:p.Q304E;ENSG00000141644:ENST00000353909:exon10:c.C832G:p.Q278E;ENSG00000141644:ENST00000339998:exon11:c.C979G:p.Q327E;ENSG00000141644:ENST00000591416:exon11:c.C979G:p.Q327E;ENSG00000141644:ENST00000269471:exon10:c.C910G:p.Q304E;ENSG00000141644:ENST00000457839:exon12:c.C1054G:p.Q352E;ENSG00000141644:ENST00000590208:exon11:c.C979G:p.Q327E;ENSG00000141644:ENST00000382948:exon11:c.C979G:p.Q327E;ENSG00000141644:ENST00000588937:exon9:c.C910G:p.Q304E;ENSG00000141644:ENST00000436910:exon10:c.C910G:p.Q304E;ENSG00000141644:ENST00000269468:exon11:c.C979G:p.Q327E;	0.872548782233522	0.494
18	47800723	G	T	18	50274353	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204151:exon9:c.C910A:p.Q304K;MBD1:NM_001204137:exon12:c.C1054A:p.Q352K;MBD1:NM_015845:exon10:c.C910A:p.Q304K;MBD1:NM_001204142:exon11:c.C979A:p.Q327K;MBD1:NM_001204138:exon12:c.C1054A:p.Q352K;MBD1:NM_015846:exon11:c.C979A:p.Q327K;MBD1:NM_001204139:exon11:c.C979A:p.Q327K;MBD1:NM_001204136:exon11:c.C979A:p.Q327K;MBD1:NM_015847:exon10:c.C832A:p.Q278K;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon12:c.C1054A:p.Q352K;ENSG00000141644:ENST00000424334:exon12:c.C1132A:p.Q378K;ENSG00000141644:ENST00000591535:exon9:c.C910A:p.Q304K;ENSG00000141644:ENST00000353909:exon10:c.C832A:p.Q278K;ENSG00000141644:ENST00000339998:exon11:c.C979A:p.Q327K;ENSG00000141644:ENST00000591416:exon11:c.C979A:p.Q327K;ENSG00000141644:ENST00000269471:exon10:c.C910A:p.Q304K;ENSG00000141644:ENST00000457839:exon12:c.C1054A:p.Q352K;ENSG00000141644:ENST00000590208:exon11:c.C979A:p.Q327K;ENSG00000141644:ENST00000382948:exon11:c.C979A:p.Q327K;ENSG00000141644:ENST00000588937:exon9:c.C910A:p.Q304K;ENSG00000141644:ENST00000436910:exon10:c.C910A:p.Q304K;ENSG00000141644:ENST00000269468:exon11:c.C979A:p.Q327K;	0.74070243109237	0.626
18	47800724	C	A	18	50274354	y	y	splicing	MBD1(NM_001204139:exon12:c.979-1G>T;NM_015847:exon11:c.832-1G>T;NM_015846:exon12:c.979-1G>T;NM_015845:exon11:c.910-1G>T;NM_001204136:exon12:c.979-1G>T;NM_001204142:exon12:c.979-1G>T;NM_001204138:exon13:c.1054-1G>T;NM_001204137:exon13:c.1054-1G>T;NM_001204151:exon10:c.910-1G>T)	.	.	splicing	ENSG00000141644(ENST00000382948:exon12:c.979-1G>T;ENST00000353909:exon11:c.832-1G>T;ENST00000591416:exon12:c.979-1G>T;ENST00000436910:exon11:c.910-1G>T;ENST00000269468:exon12:c.979-1G>T;ENST00000269471:exon11:c.910-1G>T;ENST00000339998:exon12:c.979-1G>T;ENST00000590208:exon12:c.979-1G>T;ENST00000588937:exon10:c.910-1G>T;ENST00000424334:exon13:c.1132-1G>T;ENST00000585595:exon13:c.1054-1G>T;ENST00000457839:exon13:c.1054-1G>T;ENST00000591535:exon10:c.910-1G>T)	.	.	0.999989125585301	0.942
18	47800724	C	G	18	50274354	y	y	splicing	MBD1(NM_001204139:exon12:c.979-1G>C;NM_015847:exon11:c.832-1G>C;NM_015846:exon12:c.979-1G>C;NM_015845:exon11:c.910-1G>C;NM_001204136:exon12:c.979-1G>C;NM_001204142:exon12:c.979-1G>C;NM_001204138:exon13:c.1054-1G>C;NM_001204137:exon13:c.1054-1G>C;NM_001204151:exon10:c.910-1G>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon12:c.979-1G>C;ENST00000353909:exon11:c.832-1G>C;ENST00000591416:exon12:c.979-1G>C;ENST00000436910:exon11:c.910-1G>C;ENST00000269468:exon12:c.979-1G>C;ENST00000269471:exon11:c.910-1G>C;ENST00000339998:exon12:c.979-1G>C;ENST00000590208:exon12:c.979-1G>C;ENST00000588937:exon10:c.910-1G>C;ENST00000424334:exon13:c.1132-1G>C;ENST00000585595:exon13:c.1054-1G>C;ENST00000457839:exon13:c.1054-1G>C;ENST00000591535:exon10:c.910-1G>C)	.	.	0.999989125585301	0.942
18	47800724	C	T	18	50274354	y	y	splicing	MBD1(NM_001204139:exon12:c.979-1G>A;NM_015847:exon11:c.832-1G>A;NM_015846:exon12:c.979-1G>A;NM_015845:exon11:c.910-1G>A;NM_001204136:exon12:c.979-1G>A;NM_001204142:exon12:c.979-1G>A;NM_001204138:exon13:c.1054-1G>A;NM_001204137:exon13:c.1054-1G>A;NM_001204151:exon10:c.910-1G>A)	.	.	splicing	ENSG00000141644(ENST00000382948:exon12:c.979-1G>A;ENST00000353909:exon11:c.832-1G>A;ENST00000591416:exon12:c.979-1G>A;ENST00000436910:exon11:c.910-1G>A;ENST00000269468:exon12:c.979-1G>A;ENST00000269471:exon11:c.910-1G>A;ENST00000339998:exon12:c.979-1G>A;ENST00000590208:exon12:c.979-1G>A;ENST00000588937:exon10:c.910-1G>A;ENST00000424334:exon13:c.1132-1G>A;ENST00000585595:exon13:c.1054-1G>A;ENST00000457839:exon13:c.1054-1G>A;ENST00000591535:exon10:c.910-1G>A)	.	.	0.999989125585301	0.936
18	47800725	T	A	18	50274355	y	y	splicing	MBD1(NM_001204139:exon12:c.979-2A>T;NM_015847:exon11:c.832-2A>T;NM_015846:exon12:c.979-2A>T;NM_015845:exon11:c.910-2A>T;NM_001204136:exon12:c.979-2A>T;NM_001204142:exon12:c.979-2A>T;NM_001204138:exon13:c.1054-2A>T;NM_001204137:exon13:c.1054-2A>T;NM_001204151:exon10:c.910-2A>T)	.	.	splicing	ENSG00000141644(ENST00000382948:exon12:c.979-2A>T;ENST00000353909:exon11:c.832-2A>T;ENST00000591416:exon12:c.979-2A>T;ENST00000436910:exon11:c.910-2A>T;ENST00000269468:exon12:c.979-2A>T;ENST00000269471:exon11:c.910-2A>T;ENST00000339998:exon12:c.979-2A>T;ENST00000590208:exon12:c.979-2A>T;ENST00000588937:exon10:c.910-2A>T;ENST00000424334:exon13:c.1132-2A>T;ENST00000585595:exon13:c.1054-2A>T;ENST00000457839:exon13:c.1054-2A>T;ENST00000591535:exon10:c.910-2A>T)	.	.	0.999986741007567	0.942
18	47800725	T	C	18	50274355	y	y	splicing	MBD1(NM_001204139:exon12:c.979-2A>G;NM_015847:exon11:c.832-2A>G;NM_015846:exon12:c.979-2A>G;NM_015845:exon11:c.910-2A>G;NM_001204136:exon12:c.979-2A>G;NM_001204142:exon12:c.979-2A>G;NM_001204138:exon13:c.1054-2A>G;NM_001204137:exon13:c.1054-2A>G;NM_001204151:exon10:c.910-2A>G)	.	.	splicing	ENSG00000141644(ENST00000382948:exon12:c.979-2A>G;ENST00000353909:exon11:c.832-2A>G;ENST00000591416:exon12:c.979-2A>G;ENST00000436910:exon11:c.910-2A>G;ENST00000269468:exon12:c.979-2A>G;ENST00000269471:exon11:c.910-2A>G;ENST00000339998:exon12:c.979-2A>G;ENST00000590208:exon12:c.979-2A>G;ENST00000588937:exon10:c.910-2A>G;ENST00000424334:exon13:c.1132-2A>G;ENST00000585595:exon13:c.1054-2A>G;ENST00000457839:exon13:c.1054-2A>G;ENST00000591535:exon10:c.910-2A>G)	.	.	0.999986741007567	0.942
18	47800725	T	G	18	50274355	y	y	splicing	MBD1(NM_001204139:exon12:c.979-2A>C;NM_015847:exon11:c.832-2A>C;NM_015846:exon12:c.979-2A>C;NM_015845:exon11:c.910-2A>C;NM_001204136:exon12:c.979-2A>C;NM_001204142:exon12:c.979-2A>C;NM_001204138:exon13:c.1054-2A>C;NM_001204137:exon13:c.1054-2A>C;NM_001204151:exon10:c.910-2A>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon12:c.979-2A>C;ENST00000353909:exon11:c.832-2A>C;ENST00000591416:exon12:c.979-2A>C;ENST00000436910:exon11:c.910-2A>C;ENST00000269468:exon12:c.979-2A>C;ENST00000269471:exon11:c.910-2A>C;ENST00000339998:exon12:c.979-2A>C;ENST00000590208:exon12:c.979-2A>C;ENST00000588937:exon10:c.910-2A>C;ENST00000424334:exon13:c.1132-2A>C;ENST00000585595:exon13:c.1054-2A>C;ENST00000457839:exon13:c.1054-2A>C;ENST00000591535:exon10:c.910-2A>C)	.	.	0.999986741007567	0.942
18	47800726	G	A	18	50274356	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0156151859631544	0.298
18	47800726	G	C	18	50274356	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999930102647242	0.88
18	47800726	G	T	18	50274356	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999550946561332	0.908
18	47800727	G	A	18	50274357	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0107576163864607	0.22
18	47800727	G	C	18	50274357	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0108713600383154	0.136
18	47800727	G	T	18	50274357	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00477028239422889	0.116
18	47800728	G	A	18	50274358	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.16396296758357E-4	0.026
18	47800728	G	C	18	50274358	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0574755254418444	0.178
18	47800728	G	T	18	50274358	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00961920581595019	0.088
18	47800729	G	A	18	50274359	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.3703710460305E-5	0.022
18	47800729	G	C	18	50274359	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999936075449165	0.85
18	47800729	G	T	18	50274359	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0738987174014586	0.246
18	47800730	T	A	18	50274360	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.03641187005804E-4	0.078
18	47800730	T	C	18	50274360	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.61633816737834E-4	0.014
18	47800730	T	G	18	50274360	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.51772914799248E-4	0.086
18	47800731	G	A	18	50274361	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.68062409244597E-4	0.066
18	47800731	G	C	18	50274361	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.02697105673678E-4	0.076
18	47800731	G	T	18	50274361	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.83297932082091E-4	0.09
18	47800732	G	A	18	50274362	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.62273440025806E-4	0.3
18	47800732	G	C	18	50274362	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00506418142237252	0.392
18	47800732	G	T	18	50274362	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0200449236418629	0.474
18	47800733	G	A	18	50274363	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.02014238286094E-5	0.264
18	47800733	G	C	18	50274363	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00477149834012323	0.392
18	47800733	G	T	18	50274363	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.20922330035429E-4	0.254
18	47800734	G	A	18	50274364	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.35582512232541E-4	0.31
18	47800734	G	C	18	50274364	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00319287089969482	0.398
18	47800734	G	T	18	50274364	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00435135384466629	0.4
18	47800735	G	A	18	50274365	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.44219907053872E-4	0.33
18	47800735	G	C	18	50274365	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00514833486890622	0.376
18	47800735	G	T	18	50274365	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0148474908960775	0.4
18	47801339	C	A	18	50274969	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0177789175473665	0.104
18	47801339	C	G	18	50274969	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0121357418166009	0.094
18	47801339	C	T	18	50274969	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0187976765361665	0.1
18	47801340	C	A	18	50274970	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.189109184977668	0.276
18	47801340	C	G	18	50274970	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.069587161134066	0.158
18	47801340	C	T	18	50274970	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0806914509745851	0.246
18	47801341	A	C	18	50274971	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.997381155671321	0.916
18	47801341	A	G	18	50274971	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999111328217296	0.972
18	47801341	A	T	18	50274971	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999069072716041	0.848
18	47801342	C	A	18	50274972	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999985703019395	0.978
18	47801342	C	G	18	50274972	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999981092435854	0.992
18	47801342	C	T	18	50274972	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999985380239042	1.0
18	47801343	T	A	18	50274973	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999750652918625	0.956
18	47801343	T	C	18	50274973	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999674139171569	0.97
18	47801343	T	G	18	50274973	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999242155379666	0.918
18	47801344	C	A	18	50274974	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99994054320001	0.786
18	47801344	C	G	18	50274974	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999921383298122	0.726
18	47801344	C	T	18	50274974	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00195997432001254	0.07
18	47801345	A	C	18	50274975	y	y	splicing	MBD1(NM_001204139:exon11:c.978+2T>G;NM_001204141:exon10:c.831+2T>G;NM_002384:exon11:c.978+2T>G;NM_015847:exon10:c.831+2T>G;NM_015846:exon11:c.978+2T>G;NM_001204136:exon11:c.978+2T>G;NM_015844:exon11:c.978+2T>G;NM_001204143:exon11:c.978+2T>G;NM_001204142:exon11:c.978+2T>G;NM_001204140:exon12:c.1053+2T>G;NM_001204138:exon12:c.1053+2T>G;NM_001204137:exon12:c.1053+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.831+2T>G;ENST00000592060:exon8:c.680+2T>G;ENST00000382948:exon11:c.978+2T>G;ENST00000353909:exon10:c.831+2T>G;ENST00000591416:exon11:c.978+2T>G;ENST00000349085:exon11:c.978+2T>G;ENST00000347968:exon11:c.978+2T>G;ENST00000269468:exon11:c.978+2T>G;ENST00000339998:exon11:c.978+2T>G;ENST00000590208:exon11:c.978+2T>G;ENST00000587605:exon11:c.978+2T>G;ENST00000424334:exon12:c.1131+2T>G;ENST00000585595:exon12:c.1053+2T>G;ENST00000589541:exon3:c.96+2T>G;ENST00000398495:exon11:c.1053+2T>G;ENST00000457839:exon12:c.1053+2T>G;ENST00000398493:exon11:c.978+2T>G;ENST00000398488:exon10:c.978+2T>G)	.	.	0.999990764389106	0.942
18	47801345	A	G	18	50274975	y	y	splicing	MBD1(NM_001204139:exon11:c.978+2T>C;NM_001204141:exon10:c.831+2T>C;NM_002384:exon11:c.978+2T>C;NM_015847:exon10:c.831+2T>C;NM_015846:exon11:c.978+2T>C;NM_001204136:exon11:c.978+2T>C;NM_015844:exon11:c.978+2T>C;NM_001204143:exon11:c.978+2T>C;NM_001204142:exon11:c.978+2T>C;NM_001204140:exon12:c.1053+2T>C;NM_001204138:exon12:c.1053+2T>C;NM_001204137:exon12:c.1053+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.831+2T>C;ENST00000592060:exon8:c.680+2T>C;ENST00000382948:exon11:c.978+2T>C;ENST00000353909:exon10:c.831+2T>C;ENST00000591416:exon11:c.978+2T>C;ENST00000349085:exon11:c.978+2T>C;ENST00000347968:exon11:c.978+2T>C;ENST00000269468:exon11:c.978+2T>C;ENST00000339998:exon11:c.978+2T>C;ENST00000590208:exon11:c.978+2T>C;ENST00000587605:exon11:c.978+2T>C;ENST00000424334:exon12:c.1131+2T>C;ENST00000585595:exon12:c.1053+2T>C;ENST00000589541:exon3:c.96+2T>C;ENST00000398495:exon11:c.1053+2T>C;ENST00000457839:exon12:c.1053+2T>C;ENST00000398493:exon11:c.978+2T>C;ENST00000398488:exon10:c.978+2T>C)	.	.	0.999958622364079	0.874
18	47801345	A	T	18	50274975	y	y	splicing	MBD1(NM_001204139:exon11:c.978+2T>A;NM_001204141:exon10:c.831+2T>A;NM_002384:exon11:c.978+2T>A;NM_015847:exon10:c.831+2T>A;NM_015846:exon11:c.978+2T>A;NM_001204136:exon11:c.978+2T>A;NM_015844:exon11:c.978+2T>A;NM_001204143:exon11:c.978+2T>A;NM_001204142:exon11:c.978+2T>A;NM_001204140:exon12:c.1053+2T>A;NM_001204138:exon12:c.1053+2T>A;NM_001204137:exon12:c.1053+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.831+2T>A;ENST00000592060:exon8:c.680+2T>A;ENST00000382948:exon11:c.978+2T>A;ENST00000353909:exon10:c.831+2T>A;ENST00000591416:exon11:c.978+2T>A;ENST00000349085:exon11:c.978+2T>A;ENST00000347968:exon11:c.978+2T>A;ENST00000269468:exon11:c.978+2T>A;ENST00000339998:exon11:c.978+2T>A;ENST00000590208:exon11:c.978+2T>A;ENST00000587605:exon11:c.978+2T>A;ENST00000424334:exon12:c.1131+2T>A;ENST00000585595:exon12:c.1053+2T>A;ENST00000589541:exon3:c.96+2T>A;ENST00000398495:exon11:c.1053+2T>A;ENST00000457839:exon12:c.1053+2T>A;ENST00000398493:exon11:c.978+2T>A;ENST00000398488:exon10:c.978+2T>A)	.	.	0.999990764389106	0.942
18	47801346	C	A	18	50274976	y	y	splicing	MBD1(NM_001204139:exon11:c.978+1G>T;NM_001204141:exon10:c.831+1G>T;NM_002384:exon11:c.978+1G>T;NM_015847:exon10:c.831+1G>T;NM_015846:exon11:c.978+1G>T;NM_001204136:exon11:c.978+1G>T;NM_015844:exon11:c.978+1G>T;NM_001204143:exon11:c.978+1G>T;NM_001204142:exon11:c.978+1G>T;NM_001204140:exon12:c.1053+1G>T;NM_001204138:exon12:c.1053+1G>T;NM_001204137:exon12:c.1053+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.831+1G>T;ENST00000592060:exon8:c.680+1G>T;ENST00000382948:exon11:c.978+1G>T;ENST00000353909:exon10:c.831+1G>T;ENST00000591416:exon11:c.978+1G>T;ENST00000349085:exon11:c.978+1G>T;ENST00000347968:exon11:c.978+1G>T;ENST00000269468:exon11:c.978+1G>T;ENST00000339998:exon11:c.978+1G>T;ENST00000590208:exon11:c.978+1G>T;ENST00000587605:exon11:c.978+1G>T;ENST00000424334:exon12:c.1131+1G>T;ENST00000585595:exon12:c.1053+1G>T;ENST00000589541:exon3:c.96+1G>T;ENST00000398495:exon11:c.1053+1G>T;ENST00000457839:exon12:c.1053+1G>T;ENST00000398493:exon11:c.978+1G>T;ENST00000398488:exon10:c.978+1G>T)	.	.	0.999992425382947	0.94
18	47801346	C	G	18	50274976	y	y	splicing	MBD1(NM_001204139:exon11:c.978+1G>C;NM_001204141:exon10:c.831+1G>C;NM_002384:exon11:c.978+1G>C;NM_015847:exon10:c.831+1G>C;NM_015846:exon11:c.978+1G>C;NM_001204136:exon11:c.978+1G>C;NM_015844:exon11:c.978+1G>C;NM_001204143:exon11:c.978+1G>C;NM_001204142:exon11:c.978+1G>C;NM_001204140:exon12:c.1053+1G>C;NM_001204138:exon12:c.1053+1G>C;NM_001204137:exon12:c.1053+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.831+1G>C;ENST00000592060:exon8:c.680+1G>C;ENST00000382948:exon11:c.978+1G>C;ENST00000353909:exon10:c.831+1G>C;ENST00000591416:exon11:c.978+1G>C;ENST00000349085:exon11:c.978+1G>C;ENST00000347968:exon11:c.978+1G>C;ENST00000269468:exon11:c.978+1G>C;ENST00000339998:exon11:c.978+1G>C;ENST00000590208:exon11:c.978+1G>C;ENST00000587605:exon11:c.978+1G>C;ENST00000424334:exon12:c.1131+1G>C;ENST00000585595:exon12:c.1053+1G>C;ENST00000589541:exon3:c.96+1G>C;ENST00000398495:exon11:c.1053+1G>C;ENST00000457839:exon12:c.1053+1G>C;ENST00000398493:exon11:c.978+1G>C;ENST00000398488:exon10:c.978+1G>C)	.	.	0.999992425382947	0.94
18	47801346	C	T	18	50274976	y	y	splicing	MBD1(NM_001204139:exon11:c.978+1G>A;NM_001204141:exon10:c.831+1G>A;NM_002384:exon11:c.978+1G>A;NM_015847:exon10:c.831+1G>A;NM_015846:exon11:c.978+1G>A;NM_001204136:exon11:c.978+1G>A;NM_015844:exon11:c.978+1G>A;NM_001204143:exon11:c.978+1G>A;NM_001204142:exon11:c.978+1G>A;NM_001204140:exon12:c.1053+1G>A;NM_001204138:exon12:c.1053+1G>A;NM_001204137:exon12:c.1053+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.831+1G>A;ENST00000592060:exon8:c.680+1G>A;ENST00000382948:exon11:c.978+1G>A;ENST00000353909:exon10:c.831+1G>A;ENST00000591416:exon11:c.978+1G>A;ENST00000349085:exon11:c.978+1G>A;ENST00000347968:exon11:c.978+1G>A;ENST00000269468:exon11:c.978+1G>A;ENST00000339998:exon11:c.978+1G>A;ENST00000590208:exon11:c.978+1G>A;ENST00000587605:exon11:c.978+1G>A;ENST00000424334:exon12:c.1131+1G>A;ENST00000585595:exon12:c.1053+1G>A;ENST00000589541:exon3:c.96+1G>A;ENST00000398495:exon11:c.1053+1G>A;ENST00000457839:exon12:c.1053+1G>A;ENST00000398493:exon11:c.978+1G>A;ENST00000398488:exon10:c.978+1G>A)	.	.	0.999992425382947	0.94
18	47801347	T	A	18	50274977	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon10:c.A978T:p.L326L;MBD1:NM_001204137:exon11:c.A1053T:p.L351L;MBD1:NM_001204142:exon10:c.A978T:p.L326L;MBD1:NM_001204143:exon10:c.A978T:p.L326L;MBD1:NM_001204138:exon11:c.A1053T:p.L351L;MBD1:NM_015846:exon10:c.A978T:p.L326L;MBD1:NM_001204140:exon11:c.A1053T:p.L351L;MBD1:NM_001204139:exon10:c.A978T:p.L326L;MBD1:NM_015844:exon10:c.A978T:p.L326L;MBD1:NM_001204136:exon10:c.A978T:p.L326L;MBD1:NM_015847:exon9:c.A831T:p.L277L;MBD1:NM_001204141:exon9:c.A831T:p.L277L;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.A1053T:p.L351L;ENSG00000141644:ENST00000424334:exon11:c.A1131T:p.L377L;ENSG00000141644:ENST00000398493:exon10:c.A978T:p.L326L;ENSG00000141644:ENST00000398488:exon9:c.A978T:p.L326L;ENSG00000141644:ENST00000353909:exon9:c.A831T:p.L277L;ENSG00000141644:ENST00000339998:exon10:c.A978T:p.L326L;ENSG00000141644:ENST00000589541:exon2:c.A96T:p.L32L;ENSG00000141644:ENST00000591416:exon10:c.A978T:p.L326L;ENSG00000141644:ENST00000457839:exon11:c.A1053T:p.L351L;ENSG00000141644:ENST00000590208:exon10:c.A978T:p.L326L;ENSG00000141644:ENST00000347968:exon10:c.A978T:p.L326L;ENSG00000141644:ENST00000382948:exon10:c.A978T:p.L326L;ENSG00000141644:ENST00000349085:exon10:c.A978T:p.L326L;ENSG00000141644:ENST00000269468:exon10:c.A978T:p.L326L;ENSG00000141644:ENST00000398495:exon10:c.A1053T:p.L351L;ENSG00000141644:ENST00000585672:exon9:c.A831T:p.L277L;ENSG00000141644:ENST00000587605:exon10:c.A978T:p.L326L;	0.0300512073308715	0.188
18	47801347	T	C	18	50274977	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon10:c.A978G:p.L326L;MBD1:NM_001204137:exon11:c.A1053G:p.L351L;MBD1:NM_001204142:exon10:c.A978G:p.L326L;MBD1:NM_001204143:exon10:c.A978G:p.L326L;MBD1:NM_001204138:exon11:c.A1053G:p.L351L;MBD1:NM_015846:exon10:c.A978G:p.L326L;MBD1:NM_001204140:exon11:c.A1053G:p.L351L;MBD1:NM_001204139:exon10:c.A978G:p.L326L;MBD1:NM_015844:exon10:c.A978G:p.L326L;MBD1:NM_001204136:exon10:c.A978G:p.L326L;MBD1:NM_015847:exon9:c.A831G:p.L277L;MBD1:NM_001204141:exon9:c.A831G:p.L277L;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.A1053G:p.L351L;ENSG00000141644:ENST00000424334:exon11:c.A1131G:p.L377L;ENSG00000141644:ENST00000398493:exon10:c.A978G:p.L326L;ENSG00000141644:ENST00000398488:exon9:c.A978G:p.L326L;ENSG00000141644:ENST00000353909:exon9:c.A831G:p.L277L;ENSG00000141644:ENST00000339998:exon10:c.A978G:p.L326L;ENSG00000141644:ENST00000589541:exon2:c.A96G:p.L32L;ENSG00000141644:ENST00000591416:exon10:c.A978G:p.L326L;ENSG00000141644:ENST00000457839:exon11:c.A1053G:p.L351L;ENSG00000141644:ENST00000590208:exon10:c.A978G:p.L326L;ENSG00000141644:ENST00000347968:exon10:c.A978G:p.L326L;ENSG00000141644:ENST00000382948:exon10:c.A978G:p.L326L;ENSG00000141644:ENST00000349085:exon10:c.A978G:p.L326L;ENSG00000141644:ENST00000269468:exon10:c.A978G:p.L326L;ENSG00000141644:ENST00000398495:exon10:c.A1053G:p.L351L;ENSG00000141644:ENST00000585672:exon9:c.A831G:p.L277L;ENSG00000141644:ENST00000587605:exon10:c.A978G:p.L326L;	2.86254650787E-4	0.028
18	47801347	T	G	18	50274977	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon10:c.A978C:p.L326L;MBD1:NM_001204137:exon11:c.A1053C:p.L351L;MBD1:NM_001204142:exon10:c.A978C:p.L326L;MBD1:NM_001204143:exon10:c.A978C:p.L326L;MBD1:NM_001204138:exon11:c.A1053C:p.L351L;MBD1:NM_015846:exon10:c.A978C:p.L326L;MBD1:NM_001204140:exon11:c.A1053C:p.L351L;MBD1:NM_001204139:exon10:c.A978C:p.L326L;MBD1:NM_015844:exon10:c.A978C:p.L326L;MBD1:NM_001204136:exon10:c.A978C:p.L326L;MBD1:NM_015847:exon9:c.A831C:p.L277L;MBD1:NM_001204141:exon9:c.A831C:p.L277L;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.A1053C:p.L351L;ENSG00000141644:ENST00000424334:exon11:c.A1131C:p.L377L;ENSG00000141644:ENST00000398493:exon10:c.A978C:p.L326L;ENSG00000141644:ENST00000398488:exon9:c.A978C:p.L326L;ENSG00000141644:ENST00000353909:exon9:c.A831C:p.L277L;ENSG00000141644:ENST00000339998:exon10:c.A978C:p.L326L;ENSG00000141644:ENST00000589541:exon2:c.A96C:p.L32L;ENSG00000141644:ENST00000591416:exon10:c.A978C:p.L326L;ENSG00000141644:ENST00000457839:exon11:c.A1053C:p.L351L;ENSG00000141644:ENST00000590208:exon10:c.A978C:p.L326L;ENSG00000141644:ENST00000347968:exon10:c.A978C:p.L326L;ENSG00000141644:ENST00000382948:exon10:c.A978C:p.L326L;ENSG00000141644:ENST00000349085:exon10:c.A978C:p.L326L;ENSG00000141644:ENST00000269468:exon10:c.A978C:p.L326L;ENSG00000141644:ENST00000398495:exon10:c.A1053C:p.L351L;ENSG00000141644:ENST00000585672:exon9:c.A831C:p.L277L;ENSG00000141644:ENST00000587605:exon10:c.A978C:p.L326L;	0.00720378386256152	0.128
18	47801348	A	C	18	50274978	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.T977G:p.L326R;MBD1:NM_001204137:exon11:c.T1052G:p.L351R;MBD1:NM_001204142:exon10:c.T977G:p.L326R;MBD1:NM_001204143:exon10:c.T977G:p.L326R;MBD1:NM_001204138:exon11:c.T1052G:p.L351R;MBD1:NM_015846:exon10:c.T977G:p.L326R;MBD1:NM_001204140:exon11:c.T1052G:p.L351R;MBD1:NM_001204139:exon10:c.T977G:p.L326R;MBD1:NM_015844:exon10:c.T977G:p.L326R;MBD1:NM_001204136:exon10:c.T977G:p.L326R;MBD1:NM_015847:exon9:c.T830G:p.L277R;MBD1:NM_001204141:exon9:c.T830G:p.L277R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.T1052G:p.L351R;ENSG00000141644:ENST00000424334:exon11:c.T1130G:p.L377R;ENSG00000141644:ENST00000398493:exon10:c.T977G:p.L326R;ENSG00000141644:ENST00000398488:exon9:c.T977G:p.L326R;ENSG00000141644:ENST00000353909:exon9:c.T830G:p.L277R;ENSG00000141644:ENST00000339998:exon10:c.T977G:p.L326R;ENSG00000141644:ENST00000589541:exon2:c.T95G:p.L32R;ENSG00000141644:ENST00000591416:exon10:c.T977G:p.L326R;ENSG00000141644:ENST00000457839:exon11:c.T1052G:p.L351R;ENSG00000141644:ENST00000590208:exon10:c.T977G:p.L326R;ENSG00000141644:ENST00000347968:exon10:c.T977G:p.L326R;ENSG00000141644:ENST00000382948:exon10:c.T977G:p.L326R;ENSG00000141644:ENST00000349085:exon10:c.T977G:p.L326R;ENSG00000141644:ENST00000269468:exon10:c.T977G:p.L326R;ENSG00000141644:ENST00000398495:exon10:c.T1052G:p.L351R;ENSG00000141644:ENST00000585672:exon9:c.T830G:p.L277R;ENSG00000141644:ENST00000587605:exon10:c.T977G:p.L326R;	0.97501772498072	0.826
18	47801348	A	G	18	50274978	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.T977C:p.L326P;MBD1:NM_001204137:exon11:c.T1052C:p.L351P;MBD1:NM_001204142:exon10:c.T977C:p.L326P;MBD1:NM_001204143:exon10:c.T977C:p.L326P;MBD1:NM_001204138:exon11:c.T1052C:p.L351P;MBD1:NM_015846:exon10:c.T977C:p.L326P;MBD1:NM_001204140:exon11:c.T1052C:p.L351P;MBD1:NM_001204139:exon10:c.T977C:p.L326P;MBD1:NM_015844:exon10:c.T977C:p.L326P;MBD1:NM_001204136:exon10:c.T977C:p.L326P;MBD1:NM_015847:exon9:c.T830C:p.L277P;MBD1:NM_001204141:exon9:c.T830C:p.L277P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.T1052C:p.L351P;ENSG00000141644:ENST00000424334:exon11:c.T1130C:p.L377P;ENSG00000141644:ENST00000398493:exon10:c.T977C:p.L326P;ENSG00000141644:ENST00000398488:exon9:c.T977C:p.L326P;ENSG00000141644:ENST00000353909:exon9:c.T830C:p.L277P;ENSG00000141644:ENST00000339998:exon10:c.T977C:p.L326P;ENSG00000141644:ENST00000589541:exon2:c.T95C:p.L32P;ENSG00000141644:ENST00000591416:exon10:c.T977C:p.L326P;ENSG00000141644:ENST00000457839:exon11:c.T1052C:p.L351P;ENSG00000141644:ENST00000590208:exon10:c.T977C:p.L326P;ENSG00000141644:ENST00000347968:exon10:c.T977C:p.L326P;ENSG00000141644:ENST00000382948:exon10:c.T977C:p.L326P;ENSG00000141644:ENST00000349085:exon10:c.T977C:p.L326P;ENSG00000141644:ENST00000269468:exon10:c.T977C:p.L326P;ENSG00000141644:ENST00000398495:exon10:c.T1052C:p.L351P;ENSG00000141644:ENST00000585672:exon9:c.T830C:p.L277P;ENSG00000141644:ENST00000587605:exon10:c.T977C:p.L326P;	0.97290952855451	0.798
18	47801348	A	T	18	50274978	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.T977A:p.L326Q;MBD1:NM_001204137:exon11:c.T1052A:p.L351Q;MBD1:NM_001204142:exon10:c.T977A:p.L326Q;MBD1:NM_001204143:exon10:c.T977A:p.L326Q;MBD1:NM_001204138:exon11:c.T1052A:p.L351Q;MBD1:NM_015846:exon10:c.T977A:p.L326Q;MBD1:NM_001204140:exon11:c.T1052A:p.L351Q;MBD1:NM_001204139:exon10:c.T977A:p.L326Q;MBD1:NM_015844:exon10:c.T977A:p.L326Q;MBD1:NM_001204136:exon10:c.T977A:p.L326Q;MBD1:NM_015847:exon9:c.T830A:p.L277Q;MBD1:NM_001204141:exon9:c.T830A:p.L277Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.T1052A:p.L351Q;ENSG00000141644:ENST00000424334:exon11:c.T1130A:p.L377Q;ENSG00000141644:ENST00000398493:exon10:c.T977A:p.L326Q;ENSG00000141644:ENST00000398488:exon9:c.T977A:p.L326Q;ENSG00000141644:ENST00000353909:exon9:c.T830A:p.L277Q;ENSG00000141644:ENST00000339998:exon10:c.T977A:p.L326Q;ENSG00000141644:ENST00000589541:exon2:c.T95A:p.L32Q;ENSG00000141644:ENST00000591416:exon10:c.T977A:p.L326Q;ENSG00000141644:ENST00000457839:exon11:c.T1052A:p.L351Q;ENSG00000141644:ENST00000590208:exon10:c.T977A:p.L326Q;ENSG00000141644:ENST00000347968:exon10:c.T977A:p.L326Q;ENSG00000141644:ENST00000382948:exon10:c.T977A:p.L326Q;ENSG00000141644:ENST00000349085:exon10:c.T977A:p.L326Q;ENSG00000141644:ENST00000269468:exon10:c.T977A:p.L326Q;ENSG00000141644:ENST00000398495:exon10:c.T1052A:p.L351Q;ENSG00000141644:ENST00000585672:exon9:c.T830A:p.L277Q;ENSG00000141644:ENST00000587605:exon10:c.T977A:p.L326Q;	0.804621631362289	0.566
18	47801349	G	A	18	50274979	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon10:c.C976T:p.L326L;MBD1:NM_001204137:exon11:c.C1051T:p.L351L;MBD1:NM_001204142:exon10:c.C976T:p.L326L;MBD1:NM_001204143:exon10:c.C976T:p.L326L;MBD1:NM_001204138:exon11:c.C1051T:p.L351L;MBD1:NM_015846:exon10:c.C976T:p.L326L;MBD1:NM_001204140:exon11:c.C1051T:p.L351L;MBD1:NM_001204139:exon10:c.C976T:p.L326L;MBD1:NM_015844:exon10:c.C976T:p.L326L;MBD1:NM_001204136:exon10:c.C976T:p.L326L;MBD1:NM_015847:exon9:c.C829T:p.L277L;MBD1:NM_001204141:exon9:c.C829T:p.L277L;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.C1051T:p.L351L;ENSG00000141644:ENST00000424334:exon11:c.C1129T:p.L377L;ENSG00000141644:ENST00000398493:exon10:c.C976T:p.L326L;ENSG00000141644:ENST00000398488:exon9:c.C976T:p.L326L;ENSG00000141644:ENST00000353909:exon9:c.C829T:p.L277L;ENSG00000141644:ENST00000339998:exon10:c.C976T:p.L326L;ENSG00000141644:ENST00000589541:exon2:c.C94T:p.L32L;ENSG00000141644:ENST00000591416:exon10:c.C976T:p.L326L;ENSG00000141644:ENST00000457839:exon11:c.C1051T:p.L351L;ENSG00000141644:ENST00000590208:exon10:c.C976T:p.L326L;ENSG00000141644:ENST00000347968:exon10:c.C976T:p.L326L;ENSG00000141644:ENST00000382948:exon10:c.C976T:p.L326L;ENSG00000141644:ENST00000349085:exon10:c.C976T:p.L326L;ENSG00000141644:ENST00000269468:exon10:c.C976T:p.L326L;ENSG00000141644:ENST00000398495:exon10:c.C1051T:p.L351L;ENSG00000141644:ENST00000585672:exon9:c.C829T:p.L277L;ENSG00000141644:ENST00000587605:exon10:c.C976T:p.L326L;	0.882126080377568	0.814
18	47801349	G	C	18	50274979	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.C976G:p.L326V;MBD1:NM_001204137:exon11:c.C1051G:p.L351V;MBD1:NM_001204142:exon10:c.C976G:p.L326V;MBD1:NM_001204143:exon10:c.C976G:p.L326V;MBD1:NM_001204138:exon11:c.C1051G:p.L351V;MBD1:NM_015846:exon10:c.C976G:p.L326V;MBD1:NM_001204140:exon11:c.C1051G:p.L351V;MBD1:NM_001204139:exon10:c.C976G:p.L326V;MBD1:NM_015844:exon10:c.C976G:p.L326V;MBD1:NM_001204136:exon10:c.C976G:p.L326V;MBD1:NM_015847:exon9:c.C829G:p.L277V;MBD1:NM_001204141:exon9:c.C829G:p.L277V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.C1051G:p.L351V;ENSG00000141644:ENST00000424334:exon11:c.C1129G:p.L377V;ENSG00000141644:ENST00000398493:exon10:c.C976G:p.L326V;ENSG00000141644:ENST00000398488:exon9:c.C976G:p.L326V;ENSG00000141644:ENST00000353909:exon9:c.C829G:p.L277V;ENSG00000141644:ENST00000339998:exon10:c.C976G:p.L326V;ENSG00000141644:ENST00000589541:exon2:c.C94G:p.L32V;ENSG00000141644:ENST00000591416:exon10:c.C976G:p.L326V;ENSG00000141644:ENST00000457839:exon11:c.C1051G:p.L351V;ENSG00000141644:ENST00000590208:exon10:c.C976G:p.L326V;ENSG00000141644:ENST00000347968:exon10:c.C976G:p.L326V;ENSG00000141644:ENST00000382948:exon10:c.C976G:p.L326V;ENSG00000141644:ENST00000349085:exon10:c.C976G:p.L326V;ENSG00000141644:ENST00000269468:exon10:c.C976G:p.L326V;ENSG00000141644:ENST00000398495:exon10:c.C1051G:p.L351V;ENSG00000141644:ENST00000585672:exon9:c.C829G:p.L277V;ENSG00000141644:ENST00000587605:exon10:c.C976G:p.L326V;	0.983340115969323	0.746
18	47801349	G	T	18	50274979	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.C976A:p.L326I;MBD1:NM_001204137:exon11:c.C1051A:p.L351I;MBD1:NM_001204142:exon10:c.C976A:p.L326I;MBD1:NM_001204143:exon10:c.C976A:p.L326I;MBD1:NM_001204138:exon11:c.C1051A:p.L351I;MBD1:NM_015846:exon10:c.C976A:p.L326I;MBD1:NM_001204140:exon11:c.C1051A:p.L351I;MBD1:NM_001204139:exon10:c.C976A:p.L326I;MBD1:NM_015844:exon10:c.C976A:p.L326I;MBD1:NM_001204136:exon10:c.C976A:p.L326I;MBD1:NM_015847:exon9:c.C829A:p.L277I;MBD1:NM_001204141:exon9:c.C829A:p.L277I;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.C1051A:p.L351I;ENSG00000141644:ENST00000424334:exon11:c.C1129A:p.L377I;ENSG00000141644:ENST00000398493:exon10:c.C976A:p.L326I;ENSG00000141644:ENST00000398488:exon9:c.C976A:p.L326I;ENSG00000141644:ENST00000353909:exon9:c.C829A:p.L277I;ENSG00000141644:ENST00000339998:exon10:c.C976A:p.L326I;ENSG00000141644:ENST00000589541:exon2:c.C94A:p.L32I;ENSG00000141644:ENST00000591416:exon10:c.C976A:p.L326I;ENSG00000141644:ENST00000457839:exon11:c.C1051A:p.L351I;ENSG00000141644:ENST00000590208:exon10:c.C976A:p.L326I;ENSG00000141644:ENST00000347968:exon10:c.C976A:p.L326I;ENSG00000141644:ENST00000382948:exon10:c.C976A:p.L326I;ENSG00000141644:ENST00000349085:exon10:c.C976A:p.L326I;ENSG00000141644:ENST00000269468:exon10:c.C976A:p.L326I;ENSG00000141644:ENST00000398495:exon10:c.C1051A:p.L351I;ENSG00000141644:ENST00000585672:exon9:c.C829A:p.L277I;ENSG00000141644:ENST00000587605:exon10:c.C976A:p.L326I;	0.950898976556213	0.674
18	47801414	T	A	18	50275044	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.A911T:p.H304L;MBD1:NM_001204137:exon11:c.A986T:p.H329L;MBD1:NM_001204142:exon10:c.A911T:p.H304L;MBD1:NM_001204143:exon10:c.A911T:p.H304L;MBD1:NM_001204138:exon11:c.A986T:p.H329L;MBD1:NM_015846:exon10:c.A911T:p.H304L;MBD1:NM_001204140:exon11:c.A986T:p.H329L;MBD1:NM_001204139:exon10:c.A911T:p.H304L;MBD1:NM_015844:exon10:c.A911T:p.H304L;MBD1:NM_001204136:exon10:c.A911T:p.H304L;MBD1:NM_015847:exon9:c.A764T:p.H255L;MBD1:NM_001204141:exon9:c.A764T:p.H255L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.A986T:p.H329L;ENSG00000141644:ENST00000424334:exon11:c.A1064T:p.H355L;ENSG00000141644:ENST00000398493:exon10:c.A911T:p.H304L;ENSG00000141644:ENST00000398488:exon9:c.A911T:p.H304L;ENSG00000141644:ENST00000353909:exon9:c.A764T:p.H255L;ENSG00000141644:ENST00000339998:exon10:c.A911T:p.H304L;ENSG00000141644:ENST00000589541:exon2:c.A29T:p.H10L;ENSG00000141644:ENST00000591416:exon10:c.A911T:p.H304L;ENSG00000141644:ENST00000457839:exon11:c.A986T:p.H329L;ENSG00000141644:ENST00000590208:exon10:c.A911T:p.H304L;ENSG00000141644:ENST00000347968:exon10:c.A911T:p.H304L;ENSG00000141644:ENST00000382948:exon10:c.A911T:p.H304L;ENSG00000141644:ENST00000349085:exon10:c.A911T:p.H304L;ENSG00000141644:ENST00000269468:exon10:c.A911T:p.H304L;ENSG00000141644:ENST00000398495:exon10:c.A986T:p.H329L;ENSG00000141644:ENST00000585672:exon9:c.A764T:p.H255L;ENSG00000141644:ENST00000587605:exon10:c.A911T:p.H304L;	0.668391036453182	0.594
18	47801414	T	C	18	50275044	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.A911G:p.H304R;MBD1:NM_001204137:exon11:c.A986G:p.H329R;MBD1:NM_001204142:exon10:c.A911G:p.H304R;MBD1:NM_001204143:exon10:c.A911G:p.H304R;MBD1:NM_001204138:exon11:c.A986G:p.H329R;MBD1:NM_015846:exon10:c.A911G:p.H304R;MBD1:NM_001204140:exon11:c.A986G:p.H329R;MBD1:NM_001204139:exon10:c.A911G:p.H304R;MBD1:NM_015844:exon10:c.A911G:p.H304R;MBD1:NM_001204136:exon10:c.A911G:p.H304R;MBD1:NM_015847:exon9:c.A764G:p.H255R;MBD1:NM_001204141:exon9:c.A764G:p.H255R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.A986G:p.H329R;ENSG00000141644:ENST00000424334:exon11:c.A1064G:p.H355R;ENSG00000141644:ENST00000398493:exon10:c.A911G:p.H304R;ENSG00000141644:ENST00000398488:exon9:c.A911G:p.H304R;ENSG00000141644:ENST00000353909:exon9:c.A764G:p.H255R;ENSG00000141644:ENST00000339998:exon10:c.A911G:p.H304R;ENSG00000141644:ENST00000589541:exon2:c.A29G:p.H10R;ENSG00000141644:ENST00000591416:exon10:c.A911G:p.H304R;ENSG00000141644:ENST00000457839:exon11:c.A986G:p.H329R;ENSG00000141644:ENST00000590208:exon10:c.A911G:p.H304R;ENSG00000141644:ENST00000347968:exon10:c.A911G:p.H304R;ENSG00000141644:ENST00000382948:exon10:c.A911G:p.H304R;ENSG00000141644:ENST00000349085:exon10:c.A911G:p.H304R;ENSG00000141644:ENST00000269468:exon10:c.A911G:p.H304R;ENSG00000141644:ENST00000398495:exon10:c.A986G:p.H329R;ENSG00000141644:ENST00000585672:exon9:c.A764G:p.H255R;ENSG00000141644:ENST00000587605:exon10:c.A911G:p.H304R;	0.788464874372076	0.634
18	47801414	T	G	18	50275044	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.A911C:p.H304P;MBD1:NM_001204137:exon11:c.A986C:p.H329P;MBD1:NM_001204142:exon10:c.A911C:p.H304P;MBD1:NM_001204143:exon10:c.A911C:p.H304P;MBD1:NM_001204138:exon11:c.A986C:p.H329P;MBD1:NM_015846:exon10:c.A911C:p.H304P;MBD1:NM_001204140:exon11:c.A986C:p.H329P;MBD1:NM_001204139:exon10:c.A911C:p.H304P;MBD1:NM_015844:exon10:c.A911C:p.H304P;MBD1:NM_001204136:exon10:c.A911C:p.H304P;MBD1:NM_015847:exon9:c.A764C:p.H255P;MBD1:NM_001204141:exon9:c.A764C:p.H255P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.A986C:p.H329P;ENSG00000141644:ENST00000424334:exon11:c.A1064C:p.H355P;ENSG00000141644:ENST00000398493:exon10:c.A911C:p.H304P;ENSG00000141644:ENST00000398488:exon9:c.A911C:p.H304P;ENSG00000141644:ENST00000353909:exon9:c.A764C:p.H255P;ENSG00000141644:ENST00000339998:exon10:c.A911C:p.H304P;ENSG00000141644:ENST00000589541:exon2:c.A29C:p.H10P;ENSG00000141644:ENST00000591416:exon10:c.A911C:p.H304P;ENSG00000141644:ENST00000457839:exon11:c.A986C:p.H329P;ENSG00000141644:ENST00000590208:exon10:c.A911C:p.H304P;ENSG00000141644:ENST00000347968:exon10:c.A911C:p.H304P;ENSG00000141644:ENST00000382948:exon10:c.A911C:p.H304P;ENSG00000141644:ENST00000349085:exon10:c.A911C:p.H304P;ENSG00000141644:ENST00000269468:exon10:c.A911C:p.H304P;ENSG00000141644:ENST00000398495:exon10:c.A986C:p.H329P;ENSG00000141644:ENST00000585672:exon9:c.A764C:p.H255P;ENSG00000141644:ENST00000587605:exon10:c.A911C:p.H304P;	0.801811853455557	0.488
18	47801415	G	A	18	50275045	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.C910T:p.H304Y;MBD1:NM_001204137:exon11:c.C985T:p.H329Y;MBD1:NM_001204142:exon10:c.C910T:p.H304Y;MBD1:NM_001204143:exon10:c.C910T:p.H304Y;MBD1:NM_001204138:exon11:c.C985T:p.H329Y;MBD1:NM_015846:exon10:c.C910T:p.H304Y;MBD1:NM_001204140:exon11:c.C985T:p.H329Y;MBD1:NM_001204139:exon10:c.C910T:p.H304Y;MBD1:NM_015844:exon10:c.C910T:p.H304Y;MBD1:NM_001204136:exon10:c.C910T:p.H304Y;MBD1:NM_015847:exon9:c.C763T:p.H255Y;MBD1:NM_001204141:exon9:c.C763T:p.H255Y;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.C985T:p.H329Y;ENSG00000141644:ENST00000424334:exon11:c.C1063T:p.H355Y;ENSG00000141644:ENST00000398493:exon10:c.C910T:p.H304Y;ENSG00000141644:ENST00000398488:exon9:c.C910T:p.H304Y;ENSG00000141644:ENST00000353909:exon9:c.C763T:p.H255Y;ENSG00000141644:ENST00000339998:exon10:c.C910T:p.H304Y;ENSG00000141644:ENST00000589541:exon2:c.C28T:p.H10Y;ENSG00000141644:ENST00000591416:exon10:c.C910T:p.H304Y;ENSG00000141644:ENST00000457839:exon11:c.C985T:p.H329Y;ENSG00000141644:ENST00000590208:exon10:c.C910T:p.H304Y;ENSG00000141644:ENST00000347968:exon10:c.C910T:p.H304Y;ENSG00000141644:ENST00000382948:exon10:c.C910T:p.H304Y;ENSG00000141644:ENST00000349085:exon10:c.C910T:p.H304Y;ENSG00000141644:ENST00000269468:exon10:c.C910T:p.H304Y;ENSG00000141644:ENST00000398495:exon10:c.C985T:p.H329Y;ENSG00000141644:ENST00000585672:exon9:c.C763T:p.H255Y;ENSG00000141644:ENST00000587605:exon10:c.C910T:p.H304Y;	0.995285312726506	0.812
18	47801415	G	C	18	50275045	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.C910G:p.H304D;MBD1:NM_001204137:exon11:c.C985G:p.H329D;MBD1:NM_001204142:exon10:c.C910G:p.H304D;MBD1:NM_001204143:exon10:c.C910G:p.H304D;MBD1:NM_001204138:exon11:c.C985G:p.H329D;MBD1:NM_015846:exon10:c.C910G:p.H304D;MBD1:NM_001204140:exon11:c.C985G:p.H329D;MBD1:NM_001204139:exon10:c.C910G:p.H304D;MBD1:NM_015844:exon10:c.C910G:p.H304D;MBD1:NM_001204136:exon10:c.C910G:p.H304D;MBD1:NM_015847:exon9:c.C763G:p.H255D;MBD1:NM_001204141:exon9:c.C763G:p.H255D;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.C985G:p.H329D;ENSG00000141644:ENST00000424334:exon11:c.C1063G:p.H355D;ENSG00000141644:ENST00000398493:exon10:c.C910G:p.H304D;ENSG00000141644:ENST00000398488:exon9:c.C910G:p.H304D;ENSG00000141644:ENST00000353909:exon9:c.C763G:p.H255D;ENSG00000141644:ENST00000339998:exon10:c.C910G:p.H304D;ENSG00000141644:ENST00000589541:exon2:c.C28G:p.H10D;ENSG00000141644:ENST00000591416:exon10:c.C910G:p.H304D;ENSG00000141644:ENST00000457839:exon11:c.C985G:p.H329D;ENSG00000141644:ENST00000590208:exon10:c.C910G:p.H304D;ENSG00000141644:ENST00000347968:exon10:c.C910G:p.H304D;ENSG00000141644:ENST00000382948:exon10:c.C910G:p.H304D;ENSG00000141644:ENST00000349085:exon10:c.C910G:p.H304D;ENSG00000141644:ENST00000269468:exon10:c.C910G:p.H304D;ENSG00000141644:ENST00000398495:exon10:c.C985G:p.H329D;ENSG00000141644:ENST00000585672:exon9:c.C763G:p.H255D;ENSG00000141644:ENST00000587605:exon10:c.C910G:p.H304D;	0.915959854878264	0.538
18	47801415	G	T	18	50275045	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon10:c.C910A:p.H304N;MBD1:NM_001204137:exon11:c.C985A:p.H329N;MBD1:NM_001204142:exon10:c.C910A:p.H304N;MBD1:NM_001204143:exon10:c.C910A:p.H304N;MBD1:NM_001204138:exon11:c.C985A:p.H329N;MBD1:NM_015846:exon10:c.C910A:p.H304N;MBD1:NM_001204140:exon11:c.C985A:p.H329N;MBD1:NM_001204139:exon10:c.C910A:p.H304N;MBD1:NM_015844:exon10:c.C910A:p.H304N;MBD1:NM_001204136:exon10:c.C910A:p.H304N;MBD1:NM_015847:exon9:c.C763A:p.H255N;MBD1:NM_001204141:exon9:c.C763A:p.H255N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon11:c.C985A:p.H329N;ENSG00000141644:ENST00000424334:exon11:c.C1063A:p.H355N;ENSG00000141644:ENST00000398493:exon10:c.C910A:p.H304N;ENSG00000141644:ENST00000398488:exon9:c.C910A:p.H304N;ENSG00000141644:ENST00000353909:exon9:c.C763A:p.H255N;ENSG00000141644:ENST00000339998:exon10:c.C910A:p.H304N;ENSG00000141644:ENST00000589541:exon2:c.C28A:p.H10N;ENSG00000141644:ENST00000591416:exon10:c.C910A:p.H304N;ENSG00000141644:ENST00000457839:exon11:c.C985A:p.H329N;ENSG00000141644:ENST00000590208:exon10:c.C910A:p.H304N;ENSG00000141644:ENST00000347968:exon10:c.C910A:p.H304N;ENSG00000141644:ENST00000382948:exon10:c.C910A:p.H304N;ENSG00000141644:ENST00000349085:exon10:c.C910A:p.H304N;ENSG00000141644:ENST00000269468:exon10:c.C910A:p.H304N;ENSG00000141644:ENST00000398495:exon10:c.C985A:p.H329N;ENSG00000141644:ENST00000585672:exon9:c.C763A:p.H255N;ENSG00000141644:ENST00000587605:exon10:c.C910A:p.H304N;	0.928774098816041	0.636
18	47801416	C	A	18	50275046	y	y	splicing	MBD1(NM_001204139:exon11:c.910-1G>T;NM_001204141:exon10:c.763-1G>T;NM_002384:exon11:c.910-1G>T;NM_015847:exon10:c.763-1G>T;NM_015846:exon11:c.910-1G>T;NM_001204136:exon11:c.910-1G>T;NM_015844:exon11:c.910-1G>T;NM_001204143:exon11:c.910-1G>T;NM_001204142:exon11:c.910-1G>T;NM_001204140:exon12:c.985-1G>T;NM_001204138:exon12:c.985-1G>T;NM_001204137:exon12:c.985-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.763-1G>T;ENST00000592060:exon8:c.612-1G>T;ENST00000382948:exon11:c.910-1G>T;ENST00000353909:exon10:c.763-1G>T;ENST00000591416:exon11:c.910-1G>T;ENST00000349085:exon11:c.910-1G>T;ENST00000347968:exon11:c.910-1G>T;ENST00000269468:exon11:c.910-1G>T;ENST00000339998:exon11:c.910-1G>T;ENST00000590208:exon11:c.910-1G>T;ENST00000587605:exon11:c.910-1G>T;ENST00000424334:exon12:c.1063-1G>T;ENST00000585595:exon12:c.985-1G>T;ENST00000589541:exon3:c.28-1G>T;ENST00000398495:exon11:c.985-1G>T;ENST00000457839:exon12:c.985-1G>T;ENST00000398493:exon11:c.910-1G>T;ENST00000398488:exon10:c.910-1G>T)	.	.	0.999988247793601	0.938
18	47801416	C	G	18	50275046	y	y	splicing	MBD1(NM_001204139:exon11:c.910-1G>C;NM_001204141:exon10:c.763-1G>C;NM_002384:exon11:c.910-1G>C;NM_015847:exon10:c.763-1G>C;NM_015846:exon11:c.910-1G>C;NM_001204136:exon11:c.910-1G>C;NM_015844:exon11:c.910-1G>C;NM_001204143:exon11:c.910-1G>C;NM_001204142:exon11:c.910-1G>C;NM_001204140:exon12:c.985-1G>C;NM_001204138:exon12:c.985-1G>C;NM_001204137:exon12:c.985-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.763-1G>C;ENST00000592060:exon8:c.612-1G>C;ENST00000382948:exon11:c.910-1G>C;ENST00000353909:exon10:c.763-1G>C;ENST00000591416:exon11:c.910-1G>C;ENST00000349085:exon11:c.910-1G>C;ENST00000347968:exon11:c.910-1G>C;ENST00000269468:exon11:c.910-1G>C;ENST00000339998:exon11:c.910-1G>C;ENST00000590208:exon11:c.910-1G>C;ENST00000587605:exon11:c.910-1G>C;ENST00000424334:exon12:c.1063-1G>C;ENST00000585595:exon12:c.985-1G>C;ENST00000589541:exon3:c.28-1G>C;ENST00000398495:exon11:c.985-1G>C;ENST00000457839:exon12:c.985-1G>C;ENST00000398493:exon11:c.910-1G>C;ENST00000398488:exon10:c.910-1G>C)	.	.	0.999988247793601	0.938
18	47801416	C	T	18	50275046	y	y	splicing	MBD1(NM_001204139:exon11:c.910-1G>A;NM_001204141:exon10:c.763-1G>A;NM_002384:exon11:c.910-1G>A;NM_015847:exon10:c.763-1G>A;NM_015846:exon11:c.910-1G>A;NM_001204136:exon11:c.910-1G>A;NM_015844:exon11:c.910-1G>A;NM_001204143:exon11:c.910-1G>A;NM_001204142:exon11:c.910-1G>A;NM_001204140:exon12:c.985-1G>A;NM_001204138:exon12:c.985-1G>A;NM_001204137:exon12:c.985-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.763-1G>A;ENST00000592060:exon8:c.612-1G>A;ENST00000382948:exon11:c.910-1G>A;ENST00000353909:exon10:c.763-1G>A;ENST00000591416:exon11:c.910-1G>A;ENST00000349085:exon11:c.910-1G>A;ENST00000347968:exon11:c.910-1G>A;ENST00000269468:exon11:c.910-1G>A;ENST00000339998:exon11:c.910-1G>A;ENST00000590208:exon11:c.910-1G>A;ENST00000587605:exon11:c.910-1G>A;ENST00000424334:exon12:c.1063-1G>A;ENST00000585595:exon12:c.985-1G>A;ENST00000589541:exon3:c.28-1G>A;ENST00000398495:exon11:c.985-1G>A;ENST00000457839:exon12:c.985-1G>A;ENST00000398493:exon11:c.910-1G>A;ENST00000398488:exon10:c.910-1G>A)	.	.	0.999988247793601	0.938
18	47801417	T	A	18	50275047	y	y	splicing	MBD1(NM_001204139:exon11:c.910-2A>T;NM_001204141:exon10:c.763-2A>T;NM_002384:exon11:c.910-2A>T;NM_015847:exon10:c.763-2A>T;NM_015846:exon11:c.910-2A>T;NM_001204136:exon11:c.910-2A>T;NM_015844:exon11:c.910-2A>T;NM_001204143:exon11:c.910-2A>T;NM_001204142:exon11:c.910-2A>T;NM_001204140:exon12:c.985-2A>T;NM_001204138:exon12:c.985-2A>T;NM_001204137:exon12:c.985-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.763-2A>T;ENST00000592060:exon8:c.612-2A>T;ENST00000382948:exon11:c.910-2A>T;ENST00000353909:exon10:c.763-2A>T;ENST00000591416:exon11:c.910-2A>T;ENST00000349085:exon11:c.910-2A>T;ENST00000347968:exon11:c.910-2A>T;ENST00000269468:exon11:c.910-2A>T;ENST00000339998:exon11:c.910-2A>T;ENST00000590208:exon11:c.910-2A>T;ENST00000587605:exon11:c.910-2A>T;ENST00000424334:exon12:c.1063-2A>T;ENST00000585595:exon12:c.985-2A>T;ENST00000589541:exon3:c.28-2A>T;ENST00000398495:exon11:c.985-2A>T;ENST00000457839:exon12:c.985-2A>T;ENST00000398493:exon11:c.910-2A>T;ENST00000398488:exon10:c.910-2A>T)	.	.	0.999992446697775	0.94
18	47801417	T	C	18	50275047	y	y	splicing	MBD1(NM_001204139:exon11:c.910-2A>G;NM_001204141:exon10:c.763-2A>G;NM_002384:exon11:c.910-2A>G;NM_015847:exon10:c.763-2A>G;NM_015846:exon11:c.910-2A>G;NM_001204136:exon11:c.910-2A>G;NM_015844:exon11:c.910-2A>G;NM_001204143:exon11:c.910-2A>G;NM_001204142:exon11:c.910-2A>G;NM_001204140:exon12:c.985-2A>G;NM_001204138:exon12:c.985-2A>G;NM_001204137:exon12:c.985-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.763-2A>G;ENST00000592060:exon8:c.612-2A>G;ENST00000382948:exon11:c.910-2A>G;ENST00000353909:exon10:c.763-2A>G;ENST00000591416:exon11:c.910-2A>G;ENST00000349085:exon11:c.910-2A>G;ENST00000347968:exon11:c.910-2A>G;ENST00000269468:exon11:c.910-2A>G;ENST00000339998:exon11:c.910-2A>G;ENST00000590208:exon11:c.910-2A>G;ENST00000587605:exon11:c.910-2A>G;ENST00000424334:exon12:c.1063-2A>G;ENST00000585595:exon12:c.985-2A>G;ENST00000589541:exon3:c.28-2A>G;ENST00000398495:exon11:c.985-2A>G;ENST00000457839:exon12:c.985-2A>G;ENST00000398493:exon11:c.910-2A>G;ENST00000398488:exon10:c.910-2A>G)	.	.	0.999992446697775	0.94
18	47801417	T	G	18	50275047	y	y	splicing	MBD1(NM_001204139:exon11:c.910-2A>C;NM_001204141:exon10:c.763-2A>C;NM_002384:exon11:c.910-2A>C;NM_015847:exon10:c.763-2A>C;NM_015846:exon11:c.910-2A>C;NM_001204136:exon11:c.910-2A>C;NM_015844:exon11:c.910-2A>C;NM_001204143:exon11:c.910-2A>C;NM_001204142:exon11:c.910-2A>C;NM_001204140:exon12:c.985-2A>C;NM_001204138:exon12:c.985-2A>C;NM_001204137:exon12:c.985-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon10:c.763-2A>C;ENST00000592060:exon8:c.612-2A>C;ENST00000382948:exon11:c.910-2A>C;ENST00000353909:exon10:c.763-2A>C;ENST00000591416:exon11:c.910-2A>C;ENST00000349085:exon11:c.910-2A>C;ENST00000347968:exon11:c.910-2A>C;ENST00000269468:exon11:c.910-2A>C;ENST00000339998:exon11:c.910-2A>C;ENST00000590208:exon11:c.910-2A>C;ENST00000587605:exon11:c.910-2A>C;ENST00000424334:exon12:c.1063-2A>C;ENST00000585595:exon12:c.985-2A>C;ENST00000589541:exon3:c.28-2A>C;ENST00000398495:exon11:c.985-2A>C;ENST00000457839:exon12:c.985-2A>C;ENST00000398493:exon11:c.910-2A>C;ENST00000398488:exon10:c.910-2A>C)	.	.	0.999992446697775	0.94
18	47801418	G	A	18	50275048	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.150286015622367	0.18
18	47801418	G	C	18	50275048	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999867763671873	0.976
18	47801418	G	T	18	50275048	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999181897417221	0.908
18	47801419	T	A	18	50275049	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00161919226312653	0.056
18	47801419	T	C	18	50275049	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00160811563910172	0.206
18	47801419	T	G	18	50275049	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00198695960525719	0.158
18	47801420	A	C	18	50275050	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.943874038259161	0.764
18	47801420	A	G	18	50275050	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0185139763438217	0.112
18	47801420	A	T	18	50275050	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.756179909614095	0.756
18	47801421	G	A	18	50275051	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00187819976900433	0.07
18	47801421	G	C	18	50275051	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.795173769665678	0.57
18	47801421	G	T	18	50275051	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.795807475397581	0.57
18	47801422	A	C	18	50275052	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.956215843583069	0.728
18	47801422	A	G	18	50275052	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00328073296262061	0.088
18	47801422	A	T	18	50275052	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.946113962916759	0.872
18	47801423	G	A	18	50275053	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.64886883911708E-4	0.02
18	47801423	G	C	18	50275053	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0196106534147579	0.09
18	47801423	G	T	18	50275053	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00615940178422296	0.104
18	47801424	G	A	18	50275054	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.885589871482404	0.622
18	47801424	G	C	18	50275054	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.918904850276235	0.606
18	47801424	G	T	18	50275054	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.925231184883719	0.616
18	47801425	C	A	18	50275055	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.047248592790647	0.212
18	47801425	C	G	18	50275055	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.115676144802944	0.238
18	47801425	C	T	18	50275055	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.326757312604741	0.464
18	47801426	A	C	18	50275056	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999738360033977	0.928
18	47801426	A	G	18	50275056	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.971799578991459	0.558
18	47801426	A	T	18	50275056	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999983577401933	0.976
18	47801427	A	C	18	50275057	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.998632153305838	0.854
18	47801427	A	G	18	50275057	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.344946328516456	0.326
18	47801427	A	T	18	50275057	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999138280056881	0.878
18	47801491	G	A	18	50275121	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.7753466584928E-4	0.016
18	47801491	G	C	18	50275121	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.56185412444704E-4	0.012
18	47801491	G	T	18	50275121	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.09377646376996E-4	0.04
18	47801492	G	A	18	50275122	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.39714311983133E-4	0.04
18	47801492	G	C	18	50275122	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.24450295635078E-5	0.0
18	47801492	G	T	18	50275122	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.45772815369708E-5	0.0
18	47801493	C	A	18	50275123	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.29888294738064E-5	0.0
18	47801493	C	G	18	50275123	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.36012929109168E-4	0.02
18	47801493	C	T	18	50275123	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.6542190556822E-5	0.0
18	47801494	C	A	18	50275124	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999953087268555	0.944
18	47801494	C	G	18	50275124	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99967431755644	0.794
18	47801494	C	T	18	50275124	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99963011493351	0.912
18	47801495	T	A	18	50275125	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.993685341561355	0.764
18	47801495	T	C	18	50275125	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.992386356541657	0.776
18	47801495	T	G	18	50275125	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.933248578820983	0.642
18	47801496	C	A	18	50275126	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.282901867577666	0.358
18	47801496	C	G	18	50275126	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.302203942338505	0.344
18	47801496	C	T	18	50275126	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.01063235597104E-5	0.008
18	47801497	A	C	18	50275127	y	y	splicing	MBD1(NM_001204139:exon10:c.909+2T>G;NM_001204141:exon9:c.762+2T>G;NM_002384:exon10:c.909+2T>G;NM_015847:exon9:c.762+2T>G;NM_015846:exon10:c.909+2T>G;NM_015845:exon10:c.909+2T>G;NM_001204136:exon10:c.909+2T>G;NM_015844:exon10:c.909+2T>G;NM_001204143:exon10:c.909+2T>G;NM_001204142:exon10:c.909+2T>G;NM_001204140:exon11:c.984+2T>G;NM_001204138:exon11:c.984+2T>G;NM_001204137:exon11:c.984+2T>G;NM_001204151:exon9:c.909+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.762+2T>G;ENST00000592060:exon7:c.611+2T>G;ENST00000382948:exon10:c.909+2T>G;ENST00000353909:exon9:c.762+2T>G;ENST00000591416:exon10:c.909+2T>G;ENST00000349085:exon10:c.909+2T>G;ENST00000436910:exon10:c.909+2T>G;ENST00000347968:exon10:c.909+2T>G;ENST00000269468:exon10:c.909+2T>G;ENST00000269471:exon10:c.909+2T>G;ENST00000339998:exon10:c.909+2T>G;ENST00000590208:exon10:c.909+2T>G;ENST00000587605:exon10:c.909+2T>G;ENST00000588937:exon9:c.909+2T>G;ENST00000424334:exon11:c.1062+2T>G;ENST00000585595:exon11:c.984+2T>G;ENST00000589541:exon2:c.27+2T>G;ENST00000398495:exon10:c.984+2T>G;ENST00000457839:exon11:c.984+2T>G;ENST00000398493:exon10:c.909+2T>G;ENST00000591535:exon9:c.909+2T>G;ENST00000398488:exon9:c.909+2T>G;ENST00000589733:exon6:c.511+2T>G)	.	.	0.99996509239462	0.938
18	47801497	A	G	18	50275127	y	y	splicing	MBD1(NM_001204139:exon10:c.909+2T>C;NM_001204141:exon9:c.762+2T>C;NM_002384:exon10:c.909+2T>C;NM_015847:exon9:c.762+2T>C;NM_015846:exon10:c.909+2T>C;NM_015845:exon10:c.909+2T>C;NM_001204136:exon10:c.909+2T>C;NM_015844:exon10:c.909+2T>C;NM_001204143:exon10:c.909+2T>C;NM_001204142:exon10:c.909+2T>C;NM_001204140:exon11:c.984+2T>C;NM_001204138:exon11:c.984+2T>C;NM_001204137:exon11:c.984+2T>C;NM_001204151:exon9:c.909+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.762+2T>C;ENST00000592060:exon7:c.611+2T>C;ENST00000382948:exon10:c.909+2T>C;ENST00000353909:exon9:c.762+2T>C;ENST00000591416:exon10:c.909+2T>C;ENST00000349085:exon10:c.909+2T>C;ENST00000436910:exon10:c.909+2T>C;ENST00000347968:exon10:c.909+2T>C;ENST00000269468:exon10:c.909+2T>C;ENST00000269471:exon10:c.909+2T>C;ENST00000339998:exon10:c.909+2T>C;ENST00000590208:exon10:c.909+2T>C;ENST00000587605:exon10:c.909+2T>C;ENST00000588937:exon9:c.909+2T>C;ENST00000424334:exon11:c.1062+2T>C;ENST00000585595:exon11:c.984+2T>C;ENST00000589541:exon2:c.27+2T>C;ENST00000398495:exon10:c.984+2T>C;ENST00000457839:exon11:c.984+2T>C;ENST00000398493:exon10:c.909+2T>C;ENST00000591535:exon9:c.909+2T>C;ENST00000398488:exon9:c.909+2T>C;ENST00000589733:exon6:c.511+2T>C)	.	.	0.999932563786892	0.946
18	47801497	A	T	18	50275127	y	y	splicing	MBD1(NM_001204139:exon10:c.909+2T>A;NM_001204141:exon9:c.762+2T>A;NM_002384:exon10:c.909+2T>A;NM_015847:exon9:c.762+2T>A;NM_015846:exon10:c.909+2T>A;NM_015845:exon10:c.909+2T>A;NM_001204136:exon10:c.909+2T>A;NM_015844:exon10:c.909+2T>A;NM_001204143:exon10:c.909+2T>A;NM_001204142:exon10:c.909+2T>A;NM_001204140:exon11:c.984+2T>A;NM_001204138:exon11:c.984+2T>A;NM_001204137:exon11:c.984+2T>A;NM_001204151:exon9:c.909+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.762+2T>A;ENST00000592060:exon7:c.611+2T>A;ENST00000382948:exon10:c.909+2T>A;ENST00000353909:exon9:c.762+2T>A;ENST00000591416:exon10:c.909+2T>A;ENST00000349085:exon10:c.909+2T>A;ENST00000436910:exon10:c.909+2T>A;ENST00000347968:exon10:c.909+2T>A;ENST00000269468:exon10:c.909+2T>A;ENST00000269471:exon10:c.909+2T>A;ENST00000339998:exon10:c.909+2T>A;ENST00000590208:exon10:c.909+2T>A;ENST00000587605:exon10:c.909+2T>A;ENST00000588937:exon9:c.909+2T>A;ENST00000424334:exon11:c.1062+2T>A;ENST00000585595:exon11:c.984+2T>A;ENST00000589541:exon2:c.27+2T>A;ENST00000398495:exon10:c.984+2T>A;ENST00000457839:exon11:c.984+2T>A;ENST00000398493:exon10:c.909+2T>A;ENST00000591535:exon9:c.909+2T>A;ENST00000398488:exon9:c.909+2T>A;ENST00000589733:exon6:c.511+2T>A)	.	.	0.99996509239462	0.928
18	47801498	C	A	18	50275128	y	y	splicing	MBD1(NM_001204139:exon10:c.909+1G>T;NM_001204141:exon9:c.762+1G>T;NM_002384:exon10:c.909+1G>T;NM_015847:exon9:c.762+1G>T;NM_015846:exon10:c.909+1G>T;NM_015845:exon10:c.909+1G>T;NM_001204136:exon10:c.909+1G>T;NM_015844:exon10:c.909+1G>T;NM_001204143:exon10:c.909+1G>T;NM_001204142:exon10:c.909+1G>T;NM_001204140:exon11:c.984+1G>T;NM_001204138:exon11:c.984+1G>T;NM_001204137:exon11:c.984+1G>T;NM_001204151:exon9:c.909+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.762+1G>T;ENST00000592060:exon7:c.611+1G>T;ENST00000382948:exon10:c.909+1G>T;ENST00000353909:exon9:c.762+1G>T;ENST00000591416:exon10:c.909+1G>T;ENST00000349085:exon10:c.909+1G>T;ENST00000436910:exon10:c.909+1G>T;ENST00000347968:exon10:c.909+1G>T;ENST00000269468:exon10:c.909+1G>T;ENST00000269471:exon10:c.909+1G>T;ENST00000339998:exon10:c.909+1G>T;ENST00000590208:exon10:c.909+1G>T;ENST00000587605:exon10:c.909+1G>T;ENST00000588937:exon9:c.909+1G>T;ENST00000424334:exon11:c.1062+1G>T;ENST00000585595:exon11:c.984+1G>T;ENST00000589541:exon2:c.27+1G>T;ENST00000398495:exon10:c.984+1G>T;ENST00000457839:exon11:c.984+1G>T;ENST00000398493:exon10:c.909+1G>T;ENST00000591535:exon9:c.909+1G>T;ENST00000398488:exon9:c.909+1G>T;ENST00000589733:exon6:c.511+1G>T)	.	.	0.999988247793601	0.926
18	47801498	C	G	18	50275128	y	y	splicing	MBD1(NM_001204139:exon10:c.909+1G>C;NM_001204141:exon9:c.762+1G>C;NM_002384:exon10:c.909+1G>C;NM_015847:exon9:c.762+1G>C;NM_015846:exon10:c.909+1G>C;NM_015845:exon10:c.909+1G>C;NM_001204136:exon10:c.909+1G>C;NM_015844:exon10:c.909+1G>C;NM_001204143:exon10:c.909+1G>C;NM_001204142:exon10:c.909+1G>C;NM_001204140:exon11:c.984+1G>C;NM_001204138:exon11:c.984+1G>C;NM_001204137:exon11:c.984+1G>C;NM_001204151:exon9:c.909+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.762+1G>C;ENST00000592060:exon7:c.611+1G>C;ENST00000382948:exon10:c.909+1G>C;ENST00000353909:exon9:c.762+1G>C;ENST00000591416:exon10:c.909+1G>C;ENST00000349085:exon10:c.909+1G>C;ENST00000436910:exon10:c.909+1G>C;ENST00000347968:exon10:c.909+1G>C;ENST00000269468:exon10:c.909+1G>C;ENST00000269471:exon10:c.909+1G>C;ENST00000339998:exon10:c.909+1G>C;ENST00000590208:exon10:c.909+1G>C;ENST00000587605:exon10:c.909+1G>C;ENST00000588937:exon9:c.909+1G>C;ENST00000424334:exon11:c.1062+1G>C;ENST00000585595:exon11:c.984+1G>C;ENST00000589541:exon2:c.27+1G>C;ENST00000398495:exon10:c.984+1G>C;ENST00000457839:exon11:c.984+1G>C;ENST00000398493:exon10:c.909+1G>C;ENST00000591535:exon9:c.909+1G>C;ENST00000398488:exon9:c.909+1G>C;ENST00000589733:exon6:c.511+1G>C)	.	.	0.999978952611685	0.928
18	47801498	C	T	18	50275128	y	y	splicing	MBD1(NM_001204139:exon10:c.909+1G>A;NM_001204141:exon9:c.762+1G>A;NM_002384:exon10:c.909+1G>A;NM_015847:exon9:c.762+1G>A;NM_015846:exon10:c.909+1G>A;NM_015845:exon10:c.909+1G>A;NM_001204136:exon10:c.909+1G>A;NM_015844:exon10:c.909+1G>A;NM_001204143:exon10:c.909+1G>A;NM_001204142:exon10:c.909+1G>A;NM_001204140:exon11:c.984+1G>A;NM_001204138:exon11:c.984+1G>A;NM_001204137:exon11:c.984+1G>A;NM_001204151:exon9:c.909+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.762+1G>A;ENST00000592060:exon7:c.611+1G>A;ENST00000382948:exon10:c.909+1G>A;ENST00000353909:exon9:c.762+1G>A;ENST00000591416:exon10:c.909+1G>A;ENST00000349085:exon10:c.909+1G>A;ENST00000436910:exon10:c.909+1G>A;ENST00000347968:exon10:c.909+1G>A;ENST00000269468:exon10:c.909+1G>A;ENST00000269471:exon10:c.909+1G>A;ENST00000339998:exon10:c.909+1G>A;ENST00000590208:exon10:c.909+1G>A;ENST00000587605:exon10:c.909+1G>A;ENST00000588937:exon9:c.909+1G>A;ENST00000424334:exon11:c.1062+1G>A;ENST00000585595:exon11:c.984+1G>A;ENST00000589541:exon2:c.27+1G>A;ENST00000398495:exon10:c.984+1G>A;ENST00000457839:exon11:c.984+1G>A;ENST00000398493:exon10:c.909+1G>A;ENST00000591535:exon9:c.909+1G>A;ENST00000398488:exon9:c.909+1G>A;ENST00000589733:exon6:c.511+1G>A)	.	.	0.999988247793601	0.926
18	47801499	C	A	18	50275129	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon9:c.G909T:p.P303P;MBD1:NM_001204151:exon8:c.G909T:p.P303P;MBD1:NM_001204137:exon10:c.G984T:p.P328P;MBD1:NM_015845:exon9:c.G909T:p.P303P;MBD1:NM_001204142:exon9:c.G909T:p.P303P;MBD1:NM_001204143:exon9:c.G909T:p.P303P;MBD1:NM_001204138:exon10:c.G984T:p.P328P;MBD1:NM_015846:exon9:c.G909T:p.P303P;MBD1:NM_001204140:exon10:c.G984T:p.P328P;MBD1:NM_001204139:exon9:c.G909T:p.P303P;MBD1:NM_015844:exon9:c.G909T:p.P303P;MBD1:NM_001204136:exon9:c.G909T:p.P303P;MBD1:NM_015847:exon8:c.G762T:p.P254P;MBD1:NM_001204141:exon8:c.G762T:p.P254P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G984T:p.P328P;ENSG00000141644:ENST00000424334:exon10:c.G1062T:p.P354P;ENSG00000141644:ENST00000591535:exon8:c.G909T:p.P303P;ENSG00000141644:ENST00000398493:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000398488:exon8:c.G909T:p.P303P;ENSG00000141644:ENST00000353909:exon8:c.G762T:p.P254P;ENSG00000141644:ENST00000339998:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000589541:exon1:c.G27T:p.P9P;ENSG00000141644:ENST00000591416:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000269471:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000457839:exon10:c.G984T:p.P328P;ENSG00000141644:ENST00000590208:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000347968:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000382948:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000588937:exon8:c.G909T:p.P303P;ENSG00000141644:ENST00000349085:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000436910:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000269468:exon9:c.G909T:p.P303P;ENSG00000141644:ENST00000398495:exon9:c.G984T:p.P328P;ENSG00000141644:ENST00000585672:exon8:c.G762T:p.P254P;ENSG00000141644:ENST00000587605:exon9:c.G909T:p.P303P;	0.99916499164953	0.938
18	47801499	C	G	18	50275129	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon9:c.G909C:p.P303P;MBD1:NM_001204151:exon8:c.G909C:p.P303P;MBD1:NM_001204137:exon10:c.G984C:p.P328P;MBD1:NM_015845:exon9:c.G909C:p.P303P;MBD1:NM_001204142:exon9:c.G909C:p.P303P;MBD1:NM_001204143:exon9:c.G909C:p.P303P;MBD1:NM_001204138:exon10:c.G984C:p.P328P;MBD1:NM_015846:exon9:c.G909C:p.P303P;MBD1:NM_001204140:exon10:c.G984C:p.P328P;MBD1:NM_001204139:exon9:c.G909C:p.P303P;MBD1:NM_015844:exon9:c.G909C:p.P303P;MBD1:NM_001204136:exon9:c.G909C:p.P303P;MBD1:NM_015847:exon8:c.G762C:p.P254P;MBD1:NM_001204141:exon8:c.G762C:p.P254P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G984C:p.P328P;ENSG00000141644:ENST00000424334:exon10:c.G1062C:p.P354P;ENSG00000141644:ENST00000591535:exon8:c.G909C:p.P303P;ENSG00000141644:ENST00000398493:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000398488:exon8:c.G909C:p.P303P;ENSG00000141644:ENST00000353909:exon8:c.G762C:p.P254P;ENSG00000141644:ENST00000339998:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000589541:exon1:c.G27C:p.P9P;ENSG00000141644:ENST00000591416:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000269471:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000457839:exon10:c.G984C:p.P328P;ENSG00000141644:ENST00000590208:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000347968:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000382948:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000588937:exon8:c.G909C:p.P303P;ENSG00000141644:ENST00000349085:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000436910:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000269468:exon9:c.G909C:p.P303P;ENSG00000141644:ENST00000398495:exon9:c.G984C:p.P328P;ENSG00000141644:ENST00000585672:exon8:c.G762C:p.P254P;ENSG00000141644:ENST00000587605:exon9:c.G909C:p.P303P;	0.999951544141749	0.968
18	47801499	C	T	18	50275129	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon9:c.G909A:p.P303P;MBD1:NM_001204151:exon8:c.G909A:p.P303P;MBD1:NM_001204137:exon10:c.G984A:p.P328P;MBD1:NM_015845:exon9:c.G909A:p.P303P;MBD1:NM_001204142:exon9:c.G909A:p.P303P;MBD1:NM_001204143:exon9:c.G909A:p.P303P;MBD1:NM_001204138:exon10:c.G984A:p.P328P;MBD1:NM_015846:exon9:c.G909A:p.P303P;MBD1:NM_001204140:exon10:c.G984A:p.P328P;MBD1:NM_001204139:exon9:c.G909A:p.P303P;MBD1:NM_015844:exon9:c.G909A:p.P303P;MBD1:NM_001204136:exon9:c.G909A:p.P303P;MBD1:NM_015847:exon8:c.G762A:p.P254P;MBD1:NM_001204141:exon8:c.G762A:p.P254P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G984A:p.P328P;ENSG00000141644:ENST00000424334:exon10:c.G1062A:p.P354P;ENSG00000141644:ENST00000591535:exon8:c.G909A:p.P303P;ENSG00000141644:ENST00000398493:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000398488:exon8:c.G909A:p.P303P;ENSG00000141644:ENST00000353909:exon8:c.G762A:p.P254P;ENSG00000141644:ENST00000339998:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000589541:exon1:c.G27A:p.P9P;ENSG00000141644:ENST00000591416:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000269471:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000457839:exon10:c.G984A:p.P328P;ENSG00000141644:ENST00000590208:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000347968:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000382948:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000588937:exon8:c.G909A:p.P303P;ENSG00000141644:ENST00000349085:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000436910:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000269468:exon9:c.G909A:p.P303P;ENSG00000141644:ENST00000398495:exon9:c.G984A:p.P328P;ENSG00000141644:ENST00000585672:exon8:c.G762A:p.P254P;ENSG00000141644:ENST00000587605:exon9:c.G909A:p.P303P;	0.999335272894425	0.99
18	47801500	G	A	18	50275130	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.C908T:p.P303L;MBD1:NM_001204151:exon8:c.C908T:p.P303L;MBD1:NM_001204137:exon10:c.C983T:p.P328L;MBD1:NM_015845:exon9:c.C908T:p.P303L;MBD1:NM_001204142:exon9:c.C908T:p.P303L;MBD1:NM_001204143:exon9:c.C908T:p.P303L;MBD1:NM_001204138:exon10:c.C983T:p.P328L;MBD1:NM_015846:exon9:c.C908T:p.P303L;MBD1:NM_001204140:exon10:c.C983T:p.P328L;MBD1:NM_001204139:exon9:c.C908T:p.P303L;MBD1:NM_015844:exon9:c.C908T:p.P303L;MBD1:NM_001204136:exon9:c.C908T:p.P303L;MBD1:NM_015847:exon8:c.C761T:p.P254L;MBD1:NM_001204141:exon8:c.C761T:p.P254L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.C983T:p.P328L;ENSG00000141644:ENST00000424334:exon10:c.C1061T:p.P354L;ENSG00000141644:ENST00000591535:exon8:c.C908T:p.P303L;ENSG00000141644:ENST00000398493:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000398488:exon8:c.C908T:p.P303L;ENSG00000141644:ENST00000353909:exon8:c.C761T:p.P254L;ENSG00000141644:ENST00000339998:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000589541:exon1:c.C26T:p.P9L;ENSG00000141644:ENST00000591416:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000269471:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000457839:exon10:c.C983T:p.P328L;ENSG00000141644:ENST00000590208:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000347968:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000382948:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000588937:exon8:c.C908T:p.P303L;ENSG00000141644:ENST00000349085:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000436910:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000269468:exon9:c.C908T:p.P303L;ENSG00000141644:ENST00000398495:exon9:c.C983T:p.P328L;ENSG00000141644:ENST00000585672:exon8:c.C761T:p.P254L;ENSG00000141644:ENST00000587605:exon9:c.C908T:p.P303L;	0.00339005480535612	0.192
18	47801500	G	C	18	50275130	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.C908G:p.P303R;MBD1:NM_001204151:exon8:c.C908G:p.P303R;MBD1:NM_001204137:exon10:c.C983G:p.P328R;MBD1:NM_015845:exon9:c.C908G:p.P303R;MBD1:NM_001204142:exon9:c.C908G:p.P303R;MBD1:NM_001204143:exon9:c.C908G:p.P303R;MBD1:NM_001204138:exon10:c.C983G:p.P328R;MBD1:NM_015846:exon9:c.C908G:p.P303R;MBD1:NM_001204140:exon10:c.C983G:p.P328R;MBD1:NM_001204139:exon9:c.C908G:p.P303R;MBD1:NM_015844:exon9:c.C908G:p.P303R;MBD1:NM_001204136:exon9:c.C908G:p.P303R;MBD1:NM_015847:exon8:c.C761G:p.P254R;MBD1:NM_001204141:exon8:c.C761G:p.P254R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.C983G:p.P328R;ENSG00000141644:ENST00000424334:exon10:c.C1061G:p.P354R;ENSG00000141644:ENST00000591535:exon8:c.C908G:p.P303R;ENSG00000141644:ENST00000398493:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000398488:exon8:c.C908G:p.P303R;ENSG00000141644:ENST00000353909:exon8:c.C761G:p.P254R;ENSG00000141644:ENST00000339998:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000589541:exon1:c.C26G:p.P9R;ENSG00000141644:ENST00000591416:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000269471:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000457839:exon10:c.C983G:p.P328R;ENSG00000141644:ENST00000590208:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000347968:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000382948:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000588937:exon8:c.C908G:p.P303R;ENSG00000141644:ENST00000349085:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000436910:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000269468:exon9:c.C908G:p.P303R;ENSG00000141644:ENST00000398495:exon9:c.C983G:p.P328R;ENSG00000141644:ENST00000585672:exon8:c.C761G:p.P254R;ENSG00000141644:ENST00000587605:exon9:c.C908G:p.P303R;	7.72059411266587E-4	0.056
18	47801500	G	T	18	50275130	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.C908A:p.P303Q;MBD1:NM_001204151:exon8:c.C908A:p.P303Q;MBD1:NM_001204137:exon10:c.C983A:p.P328Q;MBD1:NM_015845:exon9:c.C908A:p.P303Q;MBD1:NM_001204142:exon9:c.C908A:p.P303Q;MBD1:NM_001204143:exon9:c.C908A:p.P303Q;MBD1:NM_001204138:exon10:c.C983A:p.P328Q;MBD1:NM_015846:exon9:c.C908A:p.P303Q;MBD1:NM_001204140:exon10:c.C983A:p.P328Q;MBD1:NM_001204139:exon9:c.C908A:p.P303Q;MBD1:NM_015844:exon9:c.C908A:p.P303Q;MBD1:NM_001204136:exon9:c.C908A:p.P303Q;MBD1:NM_015847:exon8:c.C761A:p.P254Q;MBD1:NM_001204141:exon8:c.C761A:p.P254Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.C983A:p.P328Q;ENSG00000141644:ENST00000424334:exon10:c.C1061A:p.P354Q;ENSG00000141644:ENST00000591535:exon8:c.C908A:p.P303Q;ENSG00000141644:ENST00000398493:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000398488:exon8:c.C908A:p.P303Q;ENSG00000141644:ENST00000353909:exon8:c.C761A:p.P254Q;ENSG00000141644:ENST00000339998:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000589541:exon1:c.C26A:p.P9Q;ENSG00000141644:ENST00000591416:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000269471:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000457839:exon10:c.C983A:p.P328Q;ENSG00000141644:ENST00000590208:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000347968:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000382948:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000588937:exon8:c.C908A:p.P303Q;ENSG00000141644:ENST00000349085:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000436910:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000269468:exon9:c.C908A:p.P303Q;ENSG00000141644:ENST00000398495:exon9:c.C983A:p.P328Q;ENSG00000141644:ENST00000585672:exon8:c.C761A:p.P254Q;ENSG00000141644:ENST00000587605:exon9:c.C908A:p.P303Q;	5.987244804599E-5	0.082
18	47801501	G	A	18	50275131	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.C907T:p.P303S;MBD1:NM_001204151:exon8:c.C907T:p.P303S;MBD1:NM_001204137:exon10:c.C982T:p.P328S;MBD1:NM_015845:exon9:c.C907T:p.P303S;MBD1:NM_001204142:exon9:c.C907T:p.P303S;MBD1:NM_001204143:exon9:c.C907T:p.P303S;MBD1:NM_001204138:exon10:c.C982T:p.P328S;MBD1:NM_015846:exon9:c.C907T:p.P303S;MBD1:NM_001204140:exon10:c.C982T:p.P328S;MBD1:NM_001204139:exon9:c.C907T:p.P303S;MBD1:NM_015844:exon9:c.C907T:p.P303S;MBD1:NM_001204136:exon9:c.C907T:p.P303S;MBD1:NM_015847:exon8:c.C760T:p.P254S;MBD1:NM_001204141:exon8:c.C760T:p.P254S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.C982T:p.P328S;ENSG00000141644:ENST00000424334:exon10:c.C1060T:p.P354S;ENSG00000141644:ENST00000591535:exon8:c.C907T:p.P303S;ENSG00000141644:ENST00000398493:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000398488:exon8:c.C907T:p.P303S;ENSG00000141644:ENST00000353909:exon8:c.C760T:p.P254S;ENSG00000141644:ENST00000339998:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000589541:exon1:c.C25T:p.P9S;ENSG00000141644:ENST00000591416:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000269471:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000457839:exon10:c.C982T:p.P328S;ENSG00000141644:ENST00000590208:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000347968:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000382948:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000588937:exon8:c.C907T:p.P303S;ENSG00000141644:ENST00000349085:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000436910:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000269468:exon9:c.C907T:p.P303S;ENSG00000141644:ENST00000398495:exon9:c.C982T:p.P328S;ENSG00000141644:ENST00000585672:exon8:c.C760T:p.P254S;ENSG00000141644:ENST00000587605:exon9:c.C907T:p.P303S;	0.931089046425821	0.548
18	47801501	G	C	18	50275131	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.C907G:p.P303A;MBD1:NM_001204151:exon8:c.C907G:p.P303A;MBD1:NM_001204137:exon10:c.C982G:p.P328A;MBD1:NM_015845:exon9:c.C907G:p.P303A;MBD1:NM_001204142:exon9:c.C907G:p.P303A;MBD1:NM_001204143:exon9:c.C907G:p.P303A;MBD1:NM_001204138:exon10:c.C982G:p.P328A;MBD1:NM_015846:exon9:c.C907G:p.P303A;MBD1:NM_001204140:exon10:c.C982G:p.P328A;MBD1:NM_001204139:exon9:c.C907G:p.P303A;MBD1:NM_015844:exon9:c.C907G:p.P303A;MBD1:NM_001204136:exon9:c.C907G:p.P303A;MBD1:NM_015847:exon8:c.C760G:p.P254A;MBD1:NM_001204141:exon8:c.C760G:p.P254A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.C982G:p.P328A;ENSG00000141644:ENST00000424334:exon10:c.C1060G:p.P354A;ENSG00000141644:ENST00000591535:exon8:c.C907G:p.P303A;ENSG00000141644:ENST00000398493:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000398488:exon8:c.C907G:p.P303A;ENSG00000141644:ENST00000353909:exon8:c.C760G:p.P254A;ENSG00000141644:ENST00000339998:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000589541:exon1:c.C25G:p.P9A;ENSG00000141644:ENST00000591416:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000269471:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000457839:exon10:c.C982G:p.P328A;ENSG00000141644:ENST00000590208:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000347968:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000382948:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000588937:exon8:c.C907G:p.P303A;ENSG00000141644:ENST00000349085:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000436910:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000269468:exon9:c.C907G:p.P303A;ENSG00000141644:ENST00000398495:exon9:c.C982G:p.P328A;ENSG00000141644:ENST00000585672:exon8:c.C760G:p.P254A;ENSG00000141644:ENST00000587605:exon9:c.C907G:p.P303A;	0.222626841817561	0.3
18	47801501	G	T	18	50275131	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.C907A:p.P303T;MBD1:NM_001204151:exon8:c.C907A:p.P303T;MBD1:NM_001204137:exon10:c.C982A:p.P328T;MBD1:NM_015845:exon9:c.C907A:p.P303T;MBD1:NM_001204142:exon9:c.C907A:p.P303T;MBD1:NM_001204143:exon9:c.C907A:p.P303T;MBD1:NM_001204138:exon10:c.C982A:p.P328T;MBD1:NM_015846:exon9:c.C907A:p.P303T;MBD1:NM_001204140:exon10:c.C982A:p.P328T;MBD1:NM_001204139:exon9:c.C907A:p.P303T;MBD1:NM_015844:exon9:c.C907A:p.P303T;MBD1:NM_001204136:exon9:c.C907A:p.P303T;MBD1:NM_015847:exon8:c.C760A:p.P254T;MBD1:NM_001204141:exon8:c.C760A:p.P254T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.C982A:p.P328T;ENSG00000141644:ENST00000424334:exon10:c.C1060A:p.P354T;ENSG00000141644:ENST00000591535:exon8:c.C907A:p.P303T;ENSG00000141644:ENST00000398493:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000398488:exon8:c.C907A:p.P303T;ENSG00000141644:ENST00000353909:exon8:c.C760A:p.P254T;ENSG00000141644:ENST00000339998:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000589541:exon1:c.C25A:p.P9T;ENSG00000141644:ENST00000591416:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000269471:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000457839:exon10:c.C982A:p.P328T;ENSG00000141644:ENST00000590208:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000347968:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000382948:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000588937:exon8:c.C907A:p.P303T;ENSG00000141644:ENST00000349085:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000436910:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000269468:exon9:c.C907A:p.P303T;ENSG00000141644:ENST00000398495:exon9:c.C982A:p.P328T;ENSG00000141644:ENST00000585672:exon8:c.C760A:p.P254T;ENSG00000141644:ENST00000587605:exon9:c.C907A:p.P303T;	0.016914519811638	0.124
18	47801614	C	A	18	50275244	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.G794T:p.G265V;MBD1:NM_001204151:exon8:c.G794T:p.G265V;MBD1:NM_001204137:exon10:c.G869T:p.G290V;MBD1:NM_015845:exon9:c.G794T:p.G265V;MBD1:NM_001204142:exon9:c.G794T:p.G265V;MBD1:NM_001204143:exon9:c.G794T:p.G265V;MBD1:NM_001204138:exon10:c.G869T:p.G290V;MBD1:NM_015846:exon9:c.G794T:p.G265V;MBD1:NM_001204140:exon10:c.G869T:p.G290V;MBD1:NM_001204139:exon9:c.G794T:p.G265V;MBD1:NM_015844:exon9:c.G794T:p.G265V;MBD1:NM_001204136:exon9:c.G794T:p.G265V;MBD1:NM_015847:exon8:c.G647T:p.G216V;MBD1:NM_001204141:exon8:c.G647T:p.G216V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G869T:p.G290V;ENSG00000141644:ENST00000424334:exon10:c.G947T:p.G316V;ENSG00000141644:ENST00000591535:exon8:c.G794T:p.G265V;ENSG00000141644:ENST00000398493:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000398488:exon8:c.G794T:p.G265V;ENSG00000141644:ENST00000353909:exon8:c.G647T:p.G216V;ENSG00000141644:ENST00000339998:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000591416:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000269471:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000457839:exon10:c.G869T:p.G290V;ENSG00000141644:ENST00000590208:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000347968:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000382948:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000588937:exon8:c.G794T:p.G265V;ENSG00000141644:ENST00000349085:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000436910:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000269468:exon9:c.G794T:p.G265V;ENSG00000141644:ENST00000398495:exon9:c.G869T:p.G290V;ENSG00000141644:ENST00000585672:exon8:c.G647T:p.G216V;ENSG00000141644:ENST00000587605:exon9:c.G794T:p.G265V;	0.769974044332756	0.6
18	47801614	C	G	18	50275244	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.G794C:p.G265A;MBD1:NM_001204151:exon8:c.G794C:p.G265A;MBD1:NM_001204137:exon10:c.G869C:p.G290A;MBD1:NM_015845:exon9:c.G794C:p.G265A;MBD1:NM_001204142:exon9:c.G794C:p.G265A;MBD1:NM_001204143:exon9:c.G794C:p.G265A;MBD1:NM_001204138:exon10:c.G869C:p.G290A;MBD1:NM_015846:exon9:c.G794C:p.G265A;MBD1:NM_001204140:exon10:c.G869C:p.G290A;MBD1:NM_001204139:exon9:c.G794C:p.G265A;MBD1:NM_015844:exon9:c.G794C:p.G265A;MBD1:NM_001204136:exon9:c.G794C:p.G265A;MBD1:NM_015847:exon8:c.G647C:p.G216A;MBD1:NM_001204141:exon8:c.G647C:p.G216A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G869C:p.G290A;ENSG00000141644:ENST00000424334:exon10:c.G947C:p.G316A;ENSG00000141644:ENST00000591535:exon8:c.G794C:p.G265A;ENSG00000141644:ENST00000398493:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000398488:exon8:c.G794C:p.G265A;ENSG00000141644:ENST00000353909:exon8:c.G647C:p.G216A;ENSG00000141644:ENST00000339998:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000591416:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000269471:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000457839:exon10:c.G869C:p.G290A;ENSG00000141644:ENST00000590208:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000347968:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000382948:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000588937:exon8:c.G794C:p.G265A;ENSG00000141644:ENST00000349085:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000436910:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000269468:exon9:c.G794C:p.G265A;ENSG00000141644:ENST00000398495:exon9:c.G869C:p.G290A;ENSG00000141644:ENST00000585672:exon8:c.G647C:p.G216A;ENSG00000141644:ENST00000587605:exon9:c.G794C:p.G265A;	0.87769499592483	0.574
18	47801614	C	T	18	50275244	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.G794A:p.G265D;MBD1:NM_001204151:exon8:c.G794A:p.G265D;MBD1:NM_001204137:exon10:c.G869A:p.G290D;MBD1:NM_015845:exon9:c.G794A:p.G265D;MBD1:NM_001204142:exon9:c.G794A:p.G265D;MBD1:NM_001204143:exon9:c.G794A:p.G265D;MBD1:NM_001204138:exon10:c.G869A:p.G290D;MBD1:NM_015846:exon9:c.G794A:p.G265D;MBD1:NM_001204140:exon10:c.G869A:p.G290D;MBD1:NM_001204139:exon9:c.G794A:p.G265D;MBD1:NM_015844:exon9:c.G794A:p.G265D;MBD1:NM_001204136:exon9:c.G794A:p.G265D;MBD1:NM_015847:exon8:c.G647A:p.G216D;MBD1:NM_001204141:exon8:c.G647A:p.G216D;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G869A:p.G290D;ENSG00000141644:ENST00000424334:exon10:c.G947A:p.G316D;ENSG00000141644:ENST00000591535:exon8:c.G794A:p.G265D;ENSG00000141644:ENST00000398493:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000398488:exon8:c.G794A:p.G265D;ENSG00000141644:ENST00000353909:exon8:c.G647A:p.G216D;ENSG00000141644:ENST00000339998:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000591416:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000269471:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000457839:exon10:c.G869A:p.G290D;ENSG00000141644:ENST00000590208:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000347968:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000382948:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000588937:exon8:c.G794A:p.G265D;ENSG00000141644:ENST00000349085:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000436910:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000269468:exon9:c.G794A:p.G265D;ENSG00000141644:ENST00000398495:exon9:c.G869A:p.G290D;ENSG00000141644:ENST00000585672:exon8:c.G647A:p.G216D;ENSG00000141644:ENST00000587605:exon9:c.G794A:p.G265D;	0.94486195924013	0.588
18	47801615	C	A	18	50275245	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.G793T:p.G265C;MBD1:NM_001204151:exon8:c.G793T:p.G265C;MBD1:NM_001204137:exon10:c.G868T:p.G290C;MBD1:NM_015845:exon9:c.G793T:p.G265C;MBD1:NM_001204142:exon9:c.G793T:p.G265C;MBD1:NM_001204143:exon9:c.G793T:p.G265C;MBD1:NM_001204138:exon10:c.G868T:p.G290C;MBD1:NM_015846:exon9:c.G793T:p.G265C;MBD1:NM_001204140:exon10:c.G868T:p.G290C;MBD1:NM_001204139:exon9:c.G793T:p.G265C;MBD1:NM_015844:exon9:c.G793T:p.G265C;MBD1:NM_001204136:exon9:c.G793T:p.G265C;MBD1:NM_015847:exon8:c.G646T:p.G216C;MBD1:NM_001204141:exon8:c.G646T:p.G216C;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G868T:p.G290C;ENSG00000141644:ENST00000424334:exon10:c.G946T:p.G316C;ENSG00000141644:ENST00000591535:exon8:c.G793T:p.G265C;ENSG00000141644:ENST00000398493:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000398488:exon8:c.G793T:p.G265C;ENSG00000141644:ENST00000353909:exon8:c.G646T:p.G216C;ENSG00000141644:ENST00000339998:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000591416:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000269471:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000457839:exon10:c.G868T:p.G290C;ENSG00000141644:ENST00000590208:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000347968:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000382948:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000588937:exon8:c.G793T:p.G265C;ENSG00000141644:ENST00000349085:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000436910:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000269468:exon9:c.G793T:p.G265C;ENSG00000141644:ENST00000398495:exon9:c.G868T:p.G290C;ENSG00000141644:ENST00000585672:exon8:c.G646T:p.G216C;ENSG00000141644:ENST00000587605:exon9:c.G793T:p.G265C;	0.943574558815367	0.746
18	47801615	C	G	18	50275245	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.G793C:p.G265R;MBD1:NM_001204151:exon8:c.G793C:p.G265R;MBD1:NM_001204137:exon10:c.G868C:p.G290R;MBD1:NM_015845:exon9:c.G793C:p.G265R;MBD1:NM_001204142:exon9:c.G793C:p.G265R;MBD1:NM_001204143:exon9:c.G793C:p.G265R;MBD1:NM_001204138:exon10:c.G868C:p.G290R;MBD1:NM_015846:exon9:c.G793C:p.G265R;MBD1:NM_001204140:exon10:c.G868C:p.G290R;MBD1:NM_001204139:exon9:c.G793C:p.G265R;MBD1:NM_015844:exon9:c.G793C:p.G265R;MBD1:NM_001204136:exon9:c.G793C:p.G265R;MBD1:NM_015847:exon8:c.G646C:p.G216R;MBD1:NM_001204141:exon8:c.G646C:p.G216R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G868C:p.G290R;ENSG00000141644:ENST00000424334:exon10:c.G946C:p.G316R;ENSG00000141644:ENST00000591535:exon8:c.G793C:p.G265R;ENSG00000141644:ENST00000398493:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000398488:exon8:c.G793C:p.G265R;ENSG00000141644:ENST00000353909:exon8:c.G646C:p.G216R;ENSG00000141644:ENST00000339998:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000591416:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000269471:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000457839:exon10:c.G868C:p.G290R;ENSG00000141644:ENST00000590208:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000347968:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000382948:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000588937:exon8:c.G793C:p.G265R;ENSG00000141644:ENST00000349085:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000436910:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000269468:exon9:c.G793C:p.G265R;ENSG00000141644:ENST00000398495:exon9:c.G868C:p.G290R;ENSG00000141644:ENST00000585672:exon8:c.G646C:p.G216R;ENSG00000141644:ENST00000587605:exon9:c.G793C:p.G265R;	0.490863359331371	0.57
18	47801615	C	T	18	50275245	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon9:c.G793A:p.G265S;MBD1:NM_001204151:exon8:c.G793A:p.G265S;MBD1:NM_001204137:exon10:c.G868A:p.G290S;MBD1:NM_015845:exon9:c.G793A:p.G265S;MBD1:NM_001204142:exon9:c.G793A:p.G265S;MBD1:NM_001204143:exon9:c.G793A:p.G265S;MBD1:NM_001204138:exon10:c.G868A:p.G290S;MBD1:NM_015846:exon9:c.G793A:p.G265S;MBD1:NM_001204140:exon10:c.G868A:p.G290S;MBD1:NM_001204139:exon9:c.G793A:p.G265S;MBD1:NM_015844:exon9:c.G793A:p.G265S;MBD1:NM_001204136:exon9:c.G793A:p.G265S;MBD1:NM_015847:exon8:c.G646A:p.G216S;MBD1:NM_001204141:exon8:c.G646A:p.G216S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon10:c.G868A:p.G290S;ENSG00000141644:ENST00000424334:exon10:c.G946A:p.G316S;ENSG00000141644:ENST00000591535:exon8:c.G793A:p.G265S;ENSG00000141644:ENST00000398493:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000398488:exon8:c.G793A:p.G265S;ENSG00000141644:ENST00000353909:exon8:c.G646A:p.G216S;ENSG00000141644:ENST00000339998:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000591416:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000269471:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000457839:exon10:c.G868A:p.G290S;ENSG00000141644:ENST00000590208:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000347968:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000382948:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000588937:exon8:c.G793A:p.G265S;ENSG00000141644:ENST00000349085:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000436910:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000269468:exon9:c.G793A:p.G265S;ENSG00000141644:ENST00000398495:exon9:c.G868A:p.G290S;ENSG00000141644:ENST00000585672:exon8:c.G646A:p.G216S;ENSG00000141644:ENST00000587605:exon9:c.G793A:p.G265S;	0.190265318582525	0.308
18	47801616	C	A	18	50275246	y	y	splicing	MBD1(NM_001204139:exon10:c.793-1G>T;NM_001204141:exon9:c.646-1G>T;NM_002384:exon10:c.793-1G>T;NM_015847:exon9:c.646-1G>T;NM_015846:exon10:c.793-1G>T;NM_015845:exon10:c.793-1G>T;NM_001204136:exon10:c.793-1G>T;NM_015844:exon10:c.793-1G>T;NM_001204143:exon10:c.793-1G>T;NM_001204142:exon10:c.793-1G>T;NM_001204140:exon11:c.868-1G>T;NM_001204138:exon11:c.868-1G>T;NM_001204137:exon11:c.868-1G>T;NM_001204151:exon9:c.793-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.646-1G>T;ENST00000592060:exon7:c.495-1G>T;ENST00000382948:exon10:c.793-1G>T;ENST00000353909:exon9:c.646-1G>T;ENST00000591416:exon10:c.793-1G>T;ENST00000349085:exon10:c.793-1G>T;ENST00000436910:exon10:c.793-1G>T;ENST00000347968:exon10:c.793-1G>T;ENST00000269468:exon10:c.793-1G>T;ENST00000269471:exon10:c.793-1G>T;ENST00000339998:exon10:c.793-1G>T;ENST00000590208:exon10:c.793-1G>T;ENST00000587605:exon10:c.793-1G>T;ENST00000588937:exon9:c.793-1G>T;ENST00000424334:exon11:c.946-1G>T;ENST00000585595:exon11:c.868-1G>T;ENST00000398495:exon10:c.868-1G>T;ENST00000457839:exon11:c.868-1G>T;ENST00000398493:exon10:c.793-1G>T;ENST00000591535:exon9:c.793-1G>T;ENST00000398488:exon9:c.793-1G>T;ENST00000589733:exon6:c.395-1G>T)	.	.	0.999964896440643	0.932
18	47801616	C	G	18	50275246	y	y	splicing	MBD1(NM_001204139:exon10:c.793-1G>C;NM_001204141:exon9:c.646-1G>C;NM_002384:exon10:c.793-1G>C;NM_015847:exon9:c.646-1G>C;NM_015846:exon10:c.793-1G>C;NM_015845:exon10:c.793-1G>C;NM_001204136:exon10:c.793-1G>C;NM_015844:exon10:c.793-1G>C;NM_001204143:exon10:c.793-1G>C;NM_001204142:exon10:c.793-1G>C;NM_001204140:exon11:c.868-1G>C;NM_001204138:exon11:c.868-1G>C;NM_001204137:exon11:c.868-1G>C;NM_001204151:exon9:c.793-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.646-1G>C;ENST00000592060:exon7:c.495-1G>C;ENST00000382948:exon10:c.793-1G>C;ENST00000353909:exon9:c.646-1G>C;ENST00000591416:exon10:c.793-1G>C;ENST00000349085:exon10:c.793-1G>C;ENST00000436910:exon10:c.793-1G>C;ENST00000347968:exon10:c.793-1G>C;ENST00000269468:exon10:c.793-1G>C;ENST00000269471:exon10:c.793-1G>C;ENST00000339998:exon10:c.793-1G>C;ENST00000590208:exon10:c.793-1G>C;ENST00000587605:exon10:c.793-1G>C;ENST00000588937:exon9:c.793-1G>C;ENST00000424334:exon11:c.946-1G>C;ENST00000585595:exon11:c.868-1G>C;ENST00000398495:exon10:c.868-1G>C;ENST00000457839:exon11:c.868-1G>C;ENST00000398493:exon10:c.793-1G>C;ENST00000591535:exon9:c.793-1G>C;ENST00000398488:exon9:c.793-1G>C;ENST00000589733:exon6:c.395-1G>C)	.	.	0.999951957019574	0.882
18	47801616	C	T	18	50275246	y	y	splicing	MBD1(NM_001204139:exon10:c.793-1G>A;NM_001204141:exon9:c.646-1G>A;NM_002384:exon10:c.793-1G>A;NM_015847:exon9:c.646-1G>A;NM_015846:exon10:c.793-1G>A;NM_015845:exon10:c.793-1G>A;NM_001204136:exon10:c.793-1G>A;NM_015844:exon10:c.793-1G>A;NM_001204143:exon10:c.793-1G>A;NM_001204142:exon10:c.793-1G>A;NM_001204140:exon11:c.868-1G>A;NM_001204138:exon11:c.868-1G>A;NM_001204137:exon11:c.868-1G>A;NM_001204151:exon9:c.793-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.646-1G>A;ENST00000592060:exon7:c.495-1G>A;ENST00000382948:exon10:c.793-1G>A;ENST00000353909:exon9:c.646-1G>A;ENST00000591416:exon10:c.793-1G>A;ENST00000349085:exon10:c.793-1G>A;ENST00000436910:exon10:c.793-1G>A;ENST00000347968:exon10:c.793-1G>A;ENST00000269468:exon10:c.793-1G>A;ENST00000269471:exon10:c.793-1G>A;ENST00000339998:exon10:c.793-1G>A;ENST00000590208:exon10:c.793-1G>A;ENST00000587605:exon10:c.793-1G>A;ENST00000588937:exon9:c.793-1G>A;ENST00000424334:exon11:c.946-1G>A;ENST00000585595:exon11:c.868-1G>A;ENST00000398495:exon10:c.868-1G>A;ENST00000457839:exon11:c.868-1G>A;ENST00000398493:exon10:c.793-1G>A;ENST00000591535:exon9:c.793-1G>A;ENST00000398488:exon9:c.793-1G>A;ENST00000589733:exon6:c.395-1G>A)	.	.	0.999964896440643	0.934
18	47801617	T	A	18	50275247	y	y	splicing	MBD1(NM_001204139:exon10:c.793-2A>T;NM_001204141:exon9:c.646-2A>T;NM_002384:exon10:c.793-2A>T;NM_015847:exon9:c.646-2A>T;NM_015846:exon10:c.793-2A>T;NM_015845:exon10:c.793-2A>T;NM_001204136:exon10:c.793-2A>T;NM_015844:exon10:c.793-2A>T;NM_001204143:exon10:c.793-2A>T;NM_001204142:exon10:c.793-2A>T;NM_001204140:exon11:c.868-2A>T;NM_001204138:exon11:c.868-2A>T;NM_001204137:exon11:c.868-2A>T;NM_001204151:exon9:c.793-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.646-2A>T;ENST00000592060:exon7:c.495-2A>T;ENST00000382948:exon10:c.793-2A>T;ENST00000353909:exon9:c.646-2A>T;ENST00000591416:exon10:c.793-2A>T;ENST00000349085:exon10:c.793-2A>T;ENST00000436910:exon10:c.793-2A>T;ENST00000347968:exon10:c.793-2A>T;ENST00000269468:exon10:c.793-2A>T;ENST00000269471:exon10:c.793-2A>T;ENST00000339998:exon10:c.793-2A>T;ENST00000590208:exon10:c.793-2A>T;ENST00000587605:exon10:c.793-2A>T;ENST00000588937:exon9:c.793-2A>T;ENST00000424334:exon11:c.946-2A>T;ENST00000585595:exon11:c.868-2A>T;ENST00000398495:exon10:c.868-2A>T;ENST00000457839:exon11:c.868-2A>T;ENST00000398493:exon10:c.793-2A>T;ENST00000591535:exon9:c.793-2A>T;ENST00000398488:exon9:c.793-2A>T;ENST00000589733:exon6:c.395-2A>T)	.	.	0.999988109495442	0.922
18	47801617	T	C	18	50275247	y	y	splicing	MBD1(NM_001204139:exon10:c.793-2A>G;NM_001204141:exon9:c.646-2A>G;NM_002384:exon10:c.793-2A>G;NM_015847:exon9:c.646-2A>G;NM_015846:exon10:c.793-2A>G;NM_015845:exon10:c.793-2A>G;NM_001204136:exon10:c.793-2A>G;NM_015844:exon10:c.793-2A>G;NM_001204143:exon10:c.793-2A>G;NM_001204142:exon10:c.793-2A>G;NM_001204140:exon11:c.868-2A>G;NM_001204138:exon11:c.868-2A>G;NM_001204137:exon11:c.868-2A>G;NM_001204151:exon9:c.793-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.646-2A>G;ENST00000592060:exon7:c.495-2A>G;ENST00000382948:exon10:c.793-2A>G;ENST00000353909:exon9:c.646-2A>G;ENST00000591416:exon10:c.793-2A>G;ENST00000349085:exon10:c.793-2A>G;ENST00000436910:exon10:c.793-2A>G;ENST00000347968:exon10:c.793-2A>G;ENST00000269468:exon10:c.793-2A>G;ENST00000269471:exon10:c.793-2A>G;ENST00000339998:exon10:c.793-2A>G;ENST00000590208:exon10:c.793-2A>G;ENST00000587605:exon10:c.793-2A>G;ENST00000588937:exon9:c.793-2A>G;ENST00000424334:exon11:c.946-2A>G;ENST00000585595:exon11:c.868-2A>G;ENST00000398495:exon10:c.868-2A>G;ENST00000457839:exon11:c.868-2A>G;ENST00000398493:exon10:c.793-2A>G;ENST00000591535:exon9:c.793-2A>G;ENST00000398488:exon9:c.793-2A>G;ENST00000589733:exon6:c.395-2A>G)	.	.	0.999990611969007	0.894
18	47801617	T	G	18	50275247	y	y	splicing	MBD1(NM_001204139:exon10:c.793-2A>C;NM_001204141:exon9:c.646-2A>C;NM_002384:exon10:c.793-2A>C;NM_015847:exon9:c.646-2A>C;NM_015846:exon10:c.793-2A>C;NM_015845:exon10:c.793-2A>C;NM_001204136:exon10:c.793-2A>C;NM_015844:exon10:c.793-2A>C;NM_001204143:exon10:c.793-2A>C;NM_001204142:exon10:c.793-2A>C;NM_001204140:exon11:c.868-2A>C;NM_001204138:exon11:c.868-2A>C;NM_001204137:exon11:c.868-2A>C;NM_001204151:exon9:c.793-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon9:c.646-2A>C;ENST00000592060:exon7:c.495-2A>C;ENST00000382948:exon10:c.793-2A>C;ENST00000353909:exon9:c.646-2A>C;ENST00000591416:exon10:c.793-2A>C;ENST00000349085:exon10:c.793-2A>C;ENST00000436910:exon10:c.793-2A>C;ENST00000347968:exon10:c.793-2A>C;ENST00000269468:exon10:c.793-2A>C;ENST00000269471:exon10:c.793-2A>C;ENST00000339998:exon10:c.793-2A>C;ENST00000590208:exon10:c.793-2A>C;ENST00000587605:exon10:c.793-2A>C;ENST00000588937:exon9:c.793-2A>C;ENST00000424334:exon11:c.946-2A>C;ENST00000585595:exon11:c.868-2A>C;ENST00000398495:exon10:c.868-2A>C;ENST00000457839:exon11:c.868-2A>C;ENST00000398493:exon10:c.793-2A>C;ENST00000591535:exon9:c.793-2A>C;ENST00000398488:exon9:c.793-2A>C;ENST00000589733:exon6:c.395-2A>C)	.	.	0.999990611969007	0.894
18	47801618	G	A	18	50275248	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.95400494308072E-4	0.026
18	47801618	G	C	18	50275248	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.997761071829459	0.862
18	47801618	G	T	18	50275248	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0900222095706272	0.414
18	47801619	G	A	18	50275249	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.77813390755229E-6	0.004
18	47801619	G	C	18	50275249	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.49717298330586E-6	0.002
18	47801619	G	T	18	50275249	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.70702098721465E-6	0.002
18	47801620	G	A	18	50275250	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.39368346405233E-5	0.002
18	47801620	G	C	18	50275250	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00716086425177601	0.116
18	47801620	G	T	18	50275250	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00134847802556607	0.052
18	47801621	A	C	18	50275251	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.368828669314461	0.42
18	47801621	A	G	18	50275251	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00187470453157274	0.092
18	47801621	A	T	18	50275251	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.452358781729062	0.386
18	47801622	A	C	18	50275252	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.87971348733584E-4	0.058
18	47801622	A	G	18	50275252	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.81906880268275E-5	0.004
18	47801622	A	T	18	50275252	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00187337093643222	0.038
18	47801623	A	C	18	50275253	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0012485502885149	0.18
18	47801623	A	G	18	50275253	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.57733083761012E-5	0.018
18	47801623	A	T	18	50275253	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00458238290521051	0.186
18	47801624	G	A	18	50275254	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.95284160025249E-5	0.004
18	47801624	G	C	18	50275254	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.48687163578769E-5	0.114
18	47801624	G	T	18	50275254	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.67636059178682E-5	0.102
18	47801625	A	C	18	50275255	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999905675264066	0.956
18	47801625	A	G	18	50275255	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.74603725012511E-4	0.118
18	47801625	A	T	18	50275255	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.505281763100986	0.462
18	47801626	T	A	18	50275256	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.2990569103521E-5	0.018
18	47801626	T	C	18	50275256	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.17601383358988E-5	0.02
18	47801626	T	G	18	50275256	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.67294631984677E-6	0.012
18	47801627	C	A	18	50275257	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.17970545718731E-5	0.004
18	47801627	C	G	18	50275257	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.40862774250871E-5	0.014
18	47801627	C	T	18	50275257	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.86826563524448E-5	0.004
18	47801732	G	A	18	50275362	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.1189536267874E-4	0.002
18	47801732	G	C	18	50275362	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.1189536267874E-4	0.002
18	47801732	G	T	18	50275362	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.1189536267874E-4	0.002
18	47801733	C	A	18	50275363	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00199590941298324	0.004
18	47801733	C	G	18	50275363	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00141933632192121	0.01
18	47801733	C	T	18	50275363	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00201744380989017	0.008
18	47801734	A	C	18	50275364	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00407745055844216	0.024
18	47801734	A	G	18	50275364	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00407745055844216	0.04
18	47801734	A	T	18	50275364	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00602217153505321	0.032
18	47801735	C	A	18	50275365	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00283526873584485	0.03
18	47801735	C	G	18	50275365	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00229005618864951	0.028
18	47801735	C	T	18	50275365	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00283526873584485	0.03
18	47801736	T	A	18	50275366	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00602217153505321	0.024
18	47801736	T	C	18	50275366	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00602217153505321	0.022
18	47801736	T	G	18	50275366	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00602217153505321	0.022
18	47801737	C	A	18	50275367	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00274158875105077	0.004
18	47801737	C	G	18	50275367	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00233838299539592	0.008
18	47801737	C	T	18	50275367	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00192232184505124	0.026
18	47801738	A	C	18	50275368	y	y	splicing	MBD1(NM_001204140:exon10:c.867+2T>G;NM_001204138:exon10:c.867+2T>G;NM_001204137:exon10:c.867+2T>G)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.494+2T>G;ENST00000424334:exon10:c.945+2T>G;ENST00000585595:exon10:c.867+2T>G;ENST00000398495:exon9:c.867+2T>G;ENST00000457839:exon10:c.867+2T>G)	.	.	0.0165604289682035	0.038
18	47801738	A	G	18	50275368	y	y	splicing	MBD1(NM_001204140:exon10:c.867+2T>C;NM_001204138:exon10:c.867+2T>C;NM_001204137:exon10:c.867+2T>C)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.494+2T>C;ENST00000424334:exon10:c.945+2T>C;ENST00000585595:exon10:c.867+2T>C;ENST00000398495:exon9:c.867+2T>C;ENST00000457839:exon10:c.867+2T>C)	.	.	0.0165604289682035	0.038
18	47801738	A	T	18	50275368	y	y	splicing	MBD1(NM_001204140:exon10:c.867+2T>A;NM_001204138:exon10:c.867+2T>A;NM_001204137:exon10:c.867+2T>A)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.494+2T>A;ENST00000424334:exon10:c.945+2T>A;ENST00000585595:exon10:c.867+2T>A;ENST00000398495:exon9:c.867+2T>A;ENST00000457839:exon10:c.867+2T>A)	.	.	0.0224116704787932	0.09
18	47801739	C	A	18	50275369	y	y	splicing	MBD1(NM_001204140:exon10:c.867+1G>T;NM_001204138:exon10:c.867+1G>T;NM_001204137:exon10:c.867+1G>T)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.494+1G>T;ENST00000424334:exon10:c.945+1G>T;ENST00000585595:exon10:c.867+1G>T;ENST00000398495:exon9:c.867+1G>T;ENST00000457839:exon10:c.867+1G>T)	.	.	0.0219297503402692	0.056
18	47801739	C	G	18	50275369	y	y	splicing	MBD1(NM_001204140:exon10:c.867+1G>C;NM_001204138:exon10:c.867+1G>C;NM_001204137:exon10:c.867+1G>C)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.494+1G>C;ENST00000424334:exon10:c.945+1G>C;ENST00000585595:exon10:c.867+1G>C;ENST00000398495:exon9:c.867+1G>C;ENST00000457839:exon10:c.867+1G>C)	.	.	0.014246701584893	0.048
18	47801739	C	T	18	50275369	y	y	splicing	MBD1(NM_001204140:exon10:c.867+1G>A;NM_001204138:exon10:c.867+1G>A;NM_001204137:exon10:c.867+1G>A)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.494+1G>A;ENST00000424334:exon10:c.945+1G>A;ENST00000585595:exon10:c.867+1G>A;ENST00000398495:exon9:c.867+1G>A;ENST00000457839:exon10:c.867+1G>A)	.	.	0.0296209754272764	0.078
18	47801740	A	C	18	50275370	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_001204137:exon9:c.T867G:p.T289T;MBD1:NM_001204138:exon9:c.T867G:p.T289T;MBD1:NM_001204140:exon9:c.T867G:p.T289T;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.T867G:p.T289T;ENSG00000141644:ENST00000424334:exon9:c.T945G:p.T315T;ENSG00000141644:ENST00000457839:exon9:c.T867G:p.T289T;ENSG00000141644:ENST00000398495:exon8:c.T867G:p.T289T;	0.00414427494721251	0.02
18	47801740	A	G	18	50275370	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_001204137:exon9:c.T867C:p.T289T;MBD1:NM_001204138:exon9:c.T867C:p.T289T;MBD1:NM_001204140:exon9:c.T867C:p.T289T;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.T867C:p.T289T;ENSG00000141644:ENST00000424334:exon9:c.T945C:p.T315T;ENSG00000141644:ENST00000457839:exon9:c.T867C:p.T289T;ENSG00000141644:ENST00000398495:exon8:c.T867C:p.T289T;	0.00414427494721251	0.02
18	47801740	A	T	18	50275370	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_001204137:exon9:c.T867A:p.T289T;MBD1:NM_001204138:exon9:c.T867A:p.T289T;MBD1:NM_001204140:exon9:c.T867A:p.T289T;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.T867A:p.T289T;ENSG00000141644:ENST00000424334:exon9:c.T945A:p.T315T;ENSG00000141644:ENST00000457839:exon9:c.T867A:p.T289T;ENSG00000141644:ENST00000398495:exon8:c.T867A:p.T289T;	0.00407745055844216	0.022
18	47801741	G	A	18	50275371	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.C866T:p.T289I;MBD1:NM_001204138:exon9:c.C866T:p.T289I;MBD1:NM_001204140:exon9:c.C866T:p.T289I;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.C866T:p.T289I;ENSG00000141644:ENST00000424334:exon9:c.C944T:p.T315I;ENSG00000141644:ENST00000457839:exon9:c.C866T:p.T289I;ENSG00000141644:ENST00000398495:exon8:c.C866T:p.T289I;	0.00800251928152168	0.036
18	47801741	G	C	18	50275371	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.C866G:p.T289S;MBD1:NM_001204138:exon9:c.C866G:p.T289S;MBD1:NM_001204140:exon9:c.C866G:p.T289S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.C866G:p.T289S;ENSG00000141644:ENST00000424334:exon9:c.C944G:p.T315S;ENSG00000141644:ENST00000457839:exon9:c.C866G:p.T289S;ENSG00000141644:ENST00000398495:exon8:c.C866G:p.T289S;	0.00207963696427839	0.038
18	47801741	G	T	18	50275371	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.C866A:p.T289N;MBD1:NM_001204138:exon9:c.C866A:p.T289N;MBD1:NM_001204140:exon9:c.C866A:p.T289N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.C866A:p.T289N;ENSG00000141644:ENST00000424334:exon9:c.C944A:p.T315N;ENSG00000141644:ENST00000457839:exon9:c.C866A:p.T289N;ENSG00000141644:ENST00000398495:exon8:c.C866A:p.T289N;	0.00229005618864951	0.032
18	47801742	T	A	18	50275372	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.A865T:p.T289S;MBD1:NM_001204138:exon9:c.A865T:p.T289S;MBD1:NM_001204140:exon9:c.A865T:p.T289S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.A865T:p.T289S;ENSG00000141644:ENST00000424334:exon9:c.A943T:p.T315S;ENSG00000141644:ENST00000457839:exon9:c.A865T:p.T289S;ENSG00000141644:ENST00000398495:exon8:c.A865T:p.T289S;	1.67406935090243E-5	0.002
18	47801742	T	C	18	50275372	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.A865G:p.T289A;MBD1:NM_001204138:exon9:c.A865G:p.T289A;MBD1:NM_001204140:exon9:c.A865G:p.T289A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.A865G:p.T289A;ENSG00000141644:ENST00000424334:exon9:c.A943G:p.T315A;ENSG00000141644:ENST00000457839:exon9:c.A865G:p.T289A;ENSG00000141644:ENST00000398495:exon8:c.A865G:p.T289A;	1.08378557604853E-5	0.008
18	47801742	T	G	18	50275372	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.A865C:p.T289P;MBD1:NM_001204138:exon9:c.A865C:p.T289P;MBD1:NM_001204140:exon9:c.A865C:p.T289P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.A865C:p.T289P;ENSG00000141644:ENST00000424334:exon9:c.A943C:p.T315P;ENSG00000141644:ENST00000457839:exon9:c.A865C:p.T289P;ENSG00000141644:ENST00000398495:exon8:c.A865C:p.T289P;	2.65673685462854E-5	0.002
18	47801813	T	A	18	50275443	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.A794T:p.H265L;MBD1:NM_001204138:exon9:c.A794T:p.H265L;MBD1:NM_001204140:exon9:c.A794T:p.H265L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.A794T:p.H265L;ENSG00000141644:ENST00000424334:exon9:c.A872T:p.H291L;ENSG00000141644:ENST00000457839:exon9:c.A794T:p.H265L;ENSG00000141644:ENST00000398495:exon8:c.A794T:p.H265L;	0.762782195123741	0.648
18	47801813	T	C	18	50275443	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.A794G:p.H265R;MBD1:NM_001204138:exon9:c.A794G:p.H265R;MBD1:NM_001204140:exon9:c.A794G:p.H265R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.A794G:p.H265R;ENSG00000141644:ENST00000424334:exon9:c.A872G:p.H291R;ENSG00000141644:ENST00000457839:exon9:c.A794G:p.H265R;ENSG00000141644:ENST00000398495:exon8:c.A794G:p.H265R;	0.0213368074231874	0.076
18	47801813	T	G	18	50275443	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.A794C:p.H265P;MBD1:NM_001204138:exon9:c.A794C:p.H265P;MBD1:NM_001204140:exon9:c.A794C:p.H265P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.A794C:p.H265P;ENSG00000141644:ENST00000424334:exon9:c.A872C:p.H291P;ENSG00000141644:ENST00000457839:exon9:c.A794C:p.H265P;ENSG00000141644:ENST00000398495:exon8:c.A794C:p.H265P;	0.71032226816738	0.648
18	47801814	G	A	18	50275444	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.C793T:p.H265Y;MBD1:NM_001204138:exon9:c.C793T:p.H265Y;MBD1:NM_001204140:exon9:c.C793T:p.H265Y;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.C793T:p.H265Y;ENSG00000141644:ENST00000424334:exon9:c.C871T:p.H291Y;ENSG00000141644:ENST00000457839:exon9:c.C793T:p.H265Y;ENSG00000141644:ENST00000398495:exon8:c.C793T:p.H265Y;	0.988420376663552	0.856
18	47801814	G	C	18	50275444	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.C793G:p.H265D;MBD1:NM_001204138:exon9:c.C793G:p.H265D;MBD1:NM_001204140:exon9:c.C793G:p.H265D;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.C793G:p.H265D;ENSG00000141644:ENST00000424334:exon9:c.C871G:p.H291D;ENSG00000141644:ENST00000457839:exon9:c.C793G:p.H265D;ENSG00000141644:ENST00000398495:exon8:c.C793G:p.H265D;	0.988420376663552	0.868
18	47801814	G	T	18	50275444	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_001204137:exon9:c.C793A:p.H265N;MBD1:NM_001204138:exon9:c.C793A:p.H265N;MBD1:NM_001204140:exon9:c.C793A:p.H265N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon9:c.C793A:p.H265N;ENSG00000141644:ENST00000424334:exon9:c.C871A:p.H291N;ENSG00000141644:ENST00000457839:exon9:c.C793A:p.H265N;ENSG00000141644:ENST00000398495:exon8:c.C793A:p.H265N;	0.988420376663552	0.882
18	47801815	C	A	18	50275445	y	y	splicing	MBD1(NM_001204140:exon10:c.793-1G>T;NM_001204138:exon10:c.793-1G>T;NM_001204137:exon10:c.793-1G>T)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.420-1G>T;ENST00000424334:exon10:c.871-1G>T;ENST00000585595:exon10:c.793-1G>T;ENST00000398495:exon9:c.793-1G>T;ENST00000457839:exon10:c.793-1G>T)	.	.	0.945007378795476	0.808
18	47801815	C	G	18	50275445	y	y	splicing	MBD1(NM_001204140:exon10:c.793-1G>C;NM_001204138:exon10:c.793-1G>C;NM_001204137:exon10:c.793-1G>C)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.420-1G>C;ENST00000424334:exon10:c.871-1G>C;ENST00000585595:exon10:c.793-1G>C;ENST00000398495:exon9:c.793-1G>C;ENST00000457839:exon10:c.793-1G>C)	.	.	0.93049346285218	0.776
18	47801815	C	T	18	50275445	y	y	splicing	MBD1(NM_001204140:exon10:c.793-1G>A;NM_001204138:exon10:c.793-1G>A;NM_001204137:exon10:c.793-1G>A)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.420-1G>A;ENST00000424334:exon10:c.871-1G>A;ENST00000585595:exon10:c.793-1G>A;ENST00000398495:exon9:c.793-1G>A;ENST00000457839:exon10:c.793-1G>A)	.	.	0.971697303897212	0.866
18	47801816	T	A	18	50275446	y	y	splicing	MBD1(NM_001204140:exon10:c.793-2A>T;NM_001204138:exon10:c.793-2A>T;NM_001204137:exon10:c.793-2A>T)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.420-2A>T;ENST00000424334:exon10:c.871-2A>T;ENST00000585595:exon10:c.793-2A>T;ENST00000398495:exon9:c.793-2A>T;ENST00000457839:exon10:c.793-2A>T)	.	.	0.762782195123741	0.672
18	47801816	T	C	18	50275446	y	y	splicing	MBD1(NM_001204140:exon10:c.793-2A>G;NM_001204138:exon10:c.793-2A>G;NM_001204137:exon10:c.793-2A>G)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.420-2A>G;ENST00000424334:exon10:c.871-2A>G;ENST00000585595:exon10:c.793-2A>G;ENST00000398495:exon9:c.793-2A>G;ENST00000457839:exon10:c.793-2A>G)	.	.	0.762782195123741	0.684
18	47801816	T	G	18	50275446	y	y	splicing	MBD1(NM_001204140:exon10:c.793-2A>C;NM_001204138:exon10:c.793-2A>C;NM_001204137:exon10:c.793-2A>C)	.	.	splicing	ENSG00000141644(ENST00000592060:exon6:c.420-2A>C;ENST00000424334:exon10:c.871-2A>C;ENST00000585595:exon10:c.793-2A>C;ENST00000398495:exon9:c.793-2A>C;ENST00000457839:exon10:c.793-2A>C)	.	.	0.762782195123741	0.682
18	47801817	G	A	18	50275447	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00219290316122973	0.034
18	47801817	G	C	18	50275447	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0015557060732357	0.016
18	47801817	G	T	18	50275447	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00173927026648215	0.03
18	47801818	G	A	18	50275448	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.72623768540605E-4	0.02
18	47801818	G	C	18	50275448	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.72623768540605E-4	0.032
18	47801818	G	T	18	50275448	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.72623768540605E-4	0.02
18	47801819	C	A	18	50275449	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0106305152589279	0.046
18	47801819	C	G	18	50275449	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00720842856246748	0.044
18	47801819	C	T	18	50275449	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0106305152589279	0.048
18	47801820	A	C	18	50275450	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00105366338095032	0.0
18	47801820	A	G	18	50275450	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00105366338095032	0.0
18	47801820	A	T	18	50275450	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00135470015719765	0.004
18	47801821	G	A	18	50275451	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.55324152907175E-4	0.04
18	47801821	G	C	18	50275451	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.97104693658708E-4	0.048
18	47801821	G	T	18	50275451	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.55324152907175E-4	0.042
18	47801822	A	C	18	50275452	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.06541812691775E-4	0.004
18	47801822	A	G	18	50275452	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.06541812691775E-4	0.002
18	47801822	A	T	18	50275452	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00106472840520139	0.002
18	47801823	C	A	18	50275453	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.07548002777155E-4	0.0
18	47801823	C	G	18	50275453	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.48293208623238E-5	0.0
18	47801823	C	T	18	50275453	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.07548002777155E-4	0.0
18	47801824	A	C	18	50275454	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.06602690930623E-4	0.018
18	47801824	A	G	18	50275454	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.06602690930623E-4	0.018
18	47801824	A	T	18	50275454	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.28931909661929E-4	0.018
18	47801825	G	A	18	50275455	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.7749166663215E-5	0.002
18	47801825	G	C	18	50275455	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.01163773767764E-5	0.0
18	47801825	G	T	18	50275455	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.01163773767764E-5	0.0
18	47801826	A	C	18	50275456	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.7763139943859E-5	0.0
18	47801826	A	G	18	50275456	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.7763139943859E-5	0.0
18	47801826	A	T	18	50275456	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.23275466631289E-5	0.006
18	47801962	C	A	18	50275592	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.11776161574844E-5	0.0
18	47801962	C	G	18	50275592	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.11776161574844E-5	0.0
18	47801962	C	T	18	50275592	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.11776161574844E-5	0.002
18	47801963	A	C	18	50275593	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.44280870484371E-5	0.006
18	47801963	A	G	18	50275593	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.00242219181034E-5	0.006
18	47801963	A	T	18	50275593	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.00242219181034E-5	0.0
18	47801964	A	C	18	50275594	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0819742043574093	0.33
18	47801964	A	G	18	50275594	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.610994992229941	0.412
18	47801964	A	T	18	50275594	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.673017913755794	0.484
18	47801965	C	A	18	50275595	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999902088950876	0.888
18	47801965	C	G	18	50275595	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999987785153153	0.908
18	47801965	C	T	18	50275595	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999907112472543	0.938
18	47801966	T	A	18	50275596	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.978552263435431	0.774
18	47801966	T	C	18	50275596	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.931763728349046	0.806
18	47801966	T	G	18	50275596	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.285596150417911	0.44
18	47801967	C	A	18	50275597	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.186085723770995	0.364
18	47801967	C	G	18	50275597	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.103696616264646	0.37
18	47801967	C	T	18	50275597	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.70699955757462E-6	0.0
18	47801968	A	C	18	50275598	y	y	splicing	MBD1(NM_001204139:exon9:c.792+2T>G;NM_001204141:exon8:c.645+2T>G;NM_002384:exon9:c.792+2T>G;NM_015847:exon8:c.645+2T>G;NM_015846:exon9:c.792+2T>G;NM_015845:exon9:c.792+2T>G;NM_001204136:exon9:c.792+2T>G;NM_015844:exon9:c.792+2T>G;NM_001204143:exon9:c.792+2T>G;NM_001204142:exon9:c.792+2T>G;NM_001204140:exon9:c.792+2T>G;NM_001204138:exon9:c.792+2T>G;NM_001204137:exon9:c.792+2T>G;NM_001204151:exon8:c.792+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.645+2T>G;ENST00000592060:exon5:c.419+2T>G;ENST00000382948:exon9:c.792+2T>G;ENST00000353909:exon8:c.645+2T>G;ENST00000591416:exon9:c.792+2T>G;ENST00000349085:exon9:c.792+2T>G;ENST00000436910:exon9:c.792+2T>G;ENST00000347968:exon9:c.792+2T>G;ENST00000269468:exon9:c.792+2T>G;ENST00000269471:exon9:c.792+2T>G;ENST00000339998:exon9:c.792+2T>G;ENST00000590208:exon9:c.792+2T>G;ENST00000587605:exon9:c.792+2T>G;ENST00000588937:exon8:c.792+2T>G;ENST00000424334:exon9:c.870+2T>G;ENST00000585595:exon9:c.792+2T>G;ENST00000398495:exon8:c.792+2T>G;ENST00000457839:exon9:c.792+2T>G;ENST00000398493:exon9:c.792+2T>G;ENST00000591535:exon8:c.792+2T>G;ENST00000398488:exon8:c.792+2T>G;ENST00000589733:exon5:c.394+2T>G)	.	.	0.99994568797423	0.944
18	47801968	A	G	18	50275598	y	y	splicing	MBD1(NM_001204139:exon9:c.792+2T>C;NM_001204141:exon8:c.645+2T>C;NM_002384:exon9:c.792+2T>C;NM_015847:exon8:c.645+2T>C;NM_015846:exon9:c.792+2T>C;NM_015845:exon9:c.792+2T>C;NM_001204136:exon9:c.792+2T>C;NM_015844:exon9:c.792+2T>C;NM_001204143:exon9:c.792+2T>C;NM_001204142:exon9:c.792+2T>C;NM_001204140:exon9:c.792+2T>C;NM_001204138:exon9:c.792+2T>C;NM_001204137:exon9:c.792+2T>C;NM_001204151:exon8:c.792+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.645+2T>C;ENST00000592060:exon5:c.419+2T>C;ENST00000382948:exon9:c.792+2T>C;ENST00000353909:exon8:c.645+2T>C;ENST00000591416:exon9:c.792+2T>C;ENST00000349085:exon9:c.792+2T>C;ENST00000436910:exon9:c.792+2T>C;ENST00000347968:exon9:c.792+2T>C;ENST00000269468:exon9:c.792+2T>C;ENST00000269471:exon9:c.792+2T>C;ENST00000339998:exon9:c.792+2T>C;ENST00000590208:exon9:c.792+2T>C;ENST00000587605:exon9:c.792+2T>C;ENST00000588937:exon8:c.792+2T>C;ENST00000424334:exon9:c.870+2T>C;ENST00000585595:exon9:c.792+2T>C;ENST00000398495:exon8:c.792+2T>C;ENST00000457839:exon9:c.792+2T>C;ENST00000398493:exon9:c.792+2T>C;ENST00000591535:exon8:c.792+2T>C;ENST00000398488:exon8:c.792+2T>C;ENST00000589733:exon5:c.394+2T>C)	.	.	0.999691296192029	0.898
18	47801968	A	T	18	50275598	y	y	splicing	MBD1(NM_001204139:exon9:c.792+2T>A;NM_001204141:exon8:c.645+2T>A;NM_002384:exon9:c.792+2T>A;NM_015847:exon8:c.645+2T>A;NM_015846:exon9:c.792+2T>A;NM_015845:exon9:c.792+2T>A;NM_001204136:exon9:c.792+2T>A;NM_015844:exon9:c.792+2T>A;NM_001204143:exon9:c.792+2T>A;NM_001204142:exon9:c.792+2T>A;NM_001204140:exon9:c.792+2T>A;NM_001204138:exon9:c.792+2T>A;NM_001204137:exon9:c.792+2T>A;NM_001204151:exon8:c.792+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.645+2T>A;ENST00000592060:exon5:c.419+2T>A;ENST00000382948:exon9:c.792+2T>A;ENST00000353909:exon8:c.645+2T>A;ENST00000591416:exon9:c.792+2T>A;ENST00000349085:exon9:c.792+2T>A;ENST00000436910:exon9:c.792+2T>A;ENST00000347968:exon9:c.792+2T>A;ENST00000269468:exon9:c.792+2T>A;ENST00000269471:exon9:c.792+2T>A;ENST00000339998:exon9:c.792+2T>A;ENST00000590208:exon9:c.792+2T>A;ENST00000587605:exon9:c.792+2T>A;ENST00000588937:exon8:c.792+2T>A;ENST00000424334:exon9:c.870+2T>A;ENST00000585595:exon9:c.792+2T>A;ENST00000398495:exon8:c.792+2T>A;ENST00000457839:exon9:c.792+2T>A;ENST00000398493:exon9:c.792+2T>A;ENST00000591535:exon8:c.792+2T>A;ENST00000398488:exon8:c.792+2T>A;ENST00000589733:exon5:c.394+2T>A)	.	.	0.99994568797423	0.944
18	47801969	C	A	18	50275599	y	y	splicing	MBD1(NM_001204139:exon9:c.792+1G>T;NM_001204141:exon8:c.645+1G>T;NM_002384:exon9:c.792+1G>T;NM_015847:exon8:c.645+1G>T;NM_015846:exon9:c.792+1G>T;NM_015845:exon9:c.792+1G>T;NM_001204136:exon9:c.792+1G>T;NM_015844:exon9:c.792+1G>T;NM_001204143:exon9:c.792+1G>T;NM_001204142:exon9:c.792+1G>T;NM_001204140:exon9:c.792+1G>T;NM_001204138:exon9:c.792+1G>T;NM_001204137:exon9:c.792+1G>T;NM_001204151:exon8:c.792+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.645+1G>T;ENST00000592060:exon5:c.419+1G>T;ENST00000382948:exon9:c.792+1G>T;ENST00000353909:exon8:c.645+1G>T;ENST00000591416:exon9:c.792+1G>T;ENST00000349085:exon9:c.792+1G>T;ENST00000436910:exon9:c.792+1G>T;ENST00000347968:exon9:c.792+1G>T;ENST00000269468:exon9:c.792+1G>T;ENST00000269471:exon9:c.792+1G>T;ENST00000339998:exon9:c.792+1G>T;ENST00000590208:exon9:c.792+1G>T;ENST00000587605:exon9:c.792+1G>T;ENST00000588937:exon8:c.792+1G>T;ENST00000424334:exon9:c.870+1G>T;ENST00000585595:exon9:c.792+1G>T;ENST00000398495:exon8:c.792+1G>T;ENST00000457839:exon9:c.792+1G>T;ENST00000398493:exon9:c.792+1G>T;ENST00000591535:exon8:c.792+1G>T;ENST00000398488:exon8:c.792+1G>T;ENST00000589733:exon5:c.394+1G>T)	.	.	0.999974090184857	0.93
18	47801969	C	G	18	50275599	y	y	splicing	MBD1(NM_001204139:exon9:c.792+1G>C;NM_001204141:exon8:c.645+1G>C;NM_002384:exon9:c.792+1G>C;NM_015847:exon8:c.645+1G>C;NM_015846:exon9:c.792+1G>C;NM_015845:exon9:c.792+1G>C;NM_001204136:exon9:c.792+1G>C;NM_015844:exon9:c.792+1G>C;NM_001204143:exon9:c.792+1G>C;NM_001204142:exon9:c.792+1G>C;NM_001204140:exon9:c.792+1G>C;NM_001204138:exon9:c.792+1G>C;NM_001204137:exon9:c.792+1G>C;NM_001204151:exon8:c.792+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.645+1G>C;ENST00000592060:exon5:c.419+1G>C;ENST00000382948:exon9:c.792+1G>C;ENST00000353909:exon8:c.645+1G>C;ENST00000591416:exon9:c.792+1G>C;ENST00000349085:exon9:c.792+1G>C;ENST00000436910:exon9:c.792+1G>C;ENST00000347968:exon9:c.792+1G>C;ENST00000269468:exon9:c.792+1G>C;ENST00000269471:exon9:c.792+1G>C;ENST00000339998:exon9:c.792+1G>C;ENST00000590208:exon9:c.792+1G>C;ENST00000587605:exon9:c.792+1G>C;ENST00000588937:exon8:c.792+1G>C;ENST00000424334:exon9:c.870+1G>C;ENST00000585595:exon9:c.792+1G>C;ENST00000398495:exon8:c.792+1G>C;ENST00000457839:exon9:c.792+1G>C;ENST00000398493:exon9:c.792+1G>C;ENST00000591535:exon8:c.792+1G>C;ENST00000398488:exon8:c.792+1G>C;ENST00000589733:exon5:c.394+1G>C)	.	.	0.99993314117114	0.928
18	47801969	C	T	18	50275599	y	y	splicing	MBD1(NM_001204139:exon9:c.792+1G>A;NM_001204141:exon8:c.645+1G>A;NM_002384:exon9:c.792+1G>A;NM_015847:exon8:c.645+1G>A;NM_015846:exon9:c.792+1G>A;NM_015845:exon9:c.792+1G>A;NM_001204136:exon9:c.792+1G>A;NM_015844:exon9:c.792+1G>A;NM_001204143:exon9:c.792+1G>A;NM_001204142:exon9:c.792+1G>A;NM_001204140:exon9:c.792+1G>A;NM_001204138:exon9:c.792+1G>A;NM_001204137:exon9:c.792+1G>A;NM_001204151:exon8:c.792+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.645+1G>A;ENST00000592060:exon5:c.419+1G>A;ENST00000382948:exon9:c.792+1G>A;ENST00000353909:exon8:c.645+1G>A;ENST00000591416:exon9:c.792+1G>A;ENST00000349085:exon9:c.792+1G>A;ENST00000436910:exon9:c.792+1G>A;ENST00000347968:exon9:c.792+1G>A;ENST00000269468:exon9:c.792+1G>A;ENST00000269471:exon9:c.792+1G>A;ENST00000339998:exon9:c.792+1G>A;ENST00000590208:exon9:c.792+1G>A;ENST00000587605:exon9:c.792+1G>A;ENST00000588937:exon8:c.792+1G>A;ENST00000424334:exon9:c.870+1G>A;ENST00000585595:exon9:c.792+1G>A;ENST00000398495:exon8:c.792+1G>A;ENST00000457839:exon9:c.792+1G>A;ENST00000398493:exon9:c.792+1G>A;ENST00000591535:exon8:c.792+1G>A;ENST00000398488:exon8:c.792+1G>A;ENST00000589733:exon5:c.394+1G>A)	.	.	0.999974090184857	0.936
18	47801970	C	A	18	50275600	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon8:c.G792T:p.R264R;MBD1:NM_001204151:exon7:c.G792T:p.R264R;MBD1:NM_001204137:exon8:c.G792T:p.R264R;MBD1:NM_015845:exon8:c.G792T:p.R264R;MBD1:NM_001204142:exon8:c.G792T:p.R264R;MBD1:NM_001204143:exon8:c.G792T:p.R264R;MBD1:NM_001204138:exon8:c.G792T:p.R264R;MBD1:NM_015846:exon8:c.G792T:p.R264R;MBD1:NM_001204140:exon8:c.G792T:p.R264R;MBD1:NM_001204139:exon8:c.G792T:p.R264R;MBD1:NM_015844:exon8:c.G792T:p.R264R;MBD1:NM_001204136:exon8:c.G792T:p.R264R;MBD1:NM_015847:exon7:c.G645T:p.R215R;MBD1:NM_001204141:exon7:c.G645T:p.R215R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000424334:exon8:c.G870T:p.R290R;ENSG00000141644:ENST00000591535:exon7:c.G792T:p.R264R;ENSG00000141644:ENST00000398493:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000398488:exon7:c.G792T:p.R264R;ENSG00000141644:ENST00000353909:exon7:c.G645T:p.R215R;ENSG00000141644:ENST00000339998:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000591416:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000269471:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000457839:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000590208:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000347968:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000382948:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000588937:exon7:c.G792T:p.R264R;ENSG00000141644:ENST00000349085:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000436910:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000269468:exon8:c.G792T:p.R264R;ENSG00000141644:ENST00000398495:exon7:c.G792T:p.R264R;ENSG00000141644:ENST00000585672:exon7:c.G645T:p.R215R;ENSG00000141644:ENST00000587605:exon8:c.G792T:p.R264R;	0.897863057865172	0.77
18	47801970	C	G	18	50275600	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon8:c.G792C:p.R264R;MBD1:NM_001204151:exon7:c.G792C:p.R264R;MBD1:NM_001204137:exon8:c.G792C:p.R264R;MBD1:NM_015845:exon8:c.G792C:p.R264R;MBD1:NM_001204142:exon8:c.G792C:p.R264R;MBD1:NM_001204143:exon8:c.G792C:p.R264R;MBD1:NM_001204138:exon8:c.G792C:p.R264R;MBD1:NM_015846:exon8:c.G792C:p.R264R;MBD1:NM_001204140:exon8:c.G792C:p.R264R;MBD1:NM_001204139:exon8:c.G792C:p.R264R;MBD1:NM_015844:exon8:c.G792C:p.R264R;MBD1:NM_001204136:exon8:c.G792C:p.R264R;MBD1:NM_015847:exon7:c.G645C:p.R215R;MBD1:NM_001204141:exon7:c.G645C:p.R215R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000424334:exon8:c.G870C:p.R290R;ENSG00000141644:ENST00000591535:exon7:c.G792C:p.R264R;ENSG00000141644:ENST00000398493:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000398488:exon7:c.G792C:p.R264R;ENSG00000141644:ENST00000353909:exon7:c.G645C:p.R215R;ENSG00000141644:ENST00000339998:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000591416:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000269471:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000457839:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000590208:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000347968:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000382948:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000588937:exon7:c.G792C:p.R264R;ENSG00000141644:ENST00000349085:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000436910:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000269468:exon8:c.G792C:p.R264R;ENSG00000141644:ENST00000398495:exon7:c.G792C:p.R264R;ENSG00000141644:ENST00000585672:exon7:c.G645C:p.R215R;ENSG00000141644:ENST00000587605:exon8:c.G792C:p.R264R;	0.998081642187392	0.698
18	47801970	C	T	18	50275600	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon8:c.G792A:p.R264R;MBD1:NM_001204151:exon7:c.G792A:p.R264R;MBD1:NM_001204137:exon8:c.G792A:p.R264R;MBD1:NM_015845:exon8:c.G792A:p.R264R;MBD1:NM_001204142:exon8:c.G792A:p.R264R;MBD1:NM_001204143:exon8:c.G792A:p.R264R;MBD1:NM_001204138:exon8:c.G792A:p.R264R;MBD1:NM_015846:exon8:c.G792A:p.R264R;MBD1:NM_001204140:exon8:c.G792A:p.R264R;MBD1:NM_001204139:exon8:c.G792A:p.R264R;MBD1:NM_015844:exon8:c.G792A:p.R264R;MBD1:NM_001204136:exon8:c.G792A:p.R264R;MBD1:NM_015847:exon7:c.G645A:p.R215R;MBD1:NM_001204141:exon7:c.G645A:p.R215R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000424334:exon8:c.G870A:p.R290R;ENSG00000141644:ENST00000591535:exon7:c.G792A:p.R264R;ENSG00000141644:ENST00000398493:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000398488:exon7:c.G792A:p.R264R;ENSG00000141644:ENST00000353909:exon7:c.G645A:p.R215R;ENSG00000141644:ENST00000339998:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000591416:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000269471:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000457839:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000590208:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000347968:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000382948:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000588937:exon7:c.G792A:p.R264R;ENSG00000141644:ENST00000349085:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000436910:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000269468:exon8:c.G792A:p.R264R;ENSG00000141644:ENST00000398495:exon7:c.G792A:p.R264R;ENSG00000141644:ENST00000585672:exon7:c.G645A:p.R215R;ENSG00000141644:ENST00000587605:exon8:c.G792A:p.R264R;	0.969877139356105	0.662
18	47801971	C	A	18	50275601	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.G791T:p.R264L;MBD1:NM_001204151:exon7:c.G791T:p.R264L;MBD1:NM_001204137:exon8:c.G791T:p.R264L;MBD1:NM_015845:exon8:c.G791T:p.R264L;MBD1:NM_001204142:exon8:c.G791T:p.R264L;MBD1:NM_001204143:exon8:c.G791T:p.R264L;MBD1:NM_001204138:exon8:c.G791T:p.R264L;MBD1:NM_015846:exon8:c.G791T:p.R264L;MBD1:NM_001204140:exon8:c.G791T:p.R264L;MBD1:NM_001204139:exon8:c.G791T:p.R264L;MBD1:NM_015844:exon8:c.G791T:p.R264L;MBD1:NM_001204136:exon8:c.G791T:p.R264L;MBD1:NM_015847:exon7:c.G644T:p.R215L;MBD1:NM_001204141:exon7:c.G644T:p.R215L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000424334:exon8:c.G869T:p.R290L;ENSG00000141644:ENST00000591535:exon7:c.G791T:p.R264L;ENSG00000141644:ENST00000398493:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000398488:exon7:c.G791T:p.R264L;ENSG00000141644:ENST00000353909:exon7:c.G644T:p.R215L;ENSG00000141644:ENST00000339998:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000591416:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000269471:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000457839:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000590208:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000347968:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000382948:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000588937:exon7:c.G791T:p.R264L;ENSG00000141644:ENST00000349085:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000436910:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000269468:exon8:c.G791T:p.R264L;ENSG00000141644:ENST00000398495:exon7:c.G791T:p.R264L;ENSG00000141644:ENST00000585672:exon7:c.G644T:p.R215L;ENSG00000141644:ENST00000587605:exon8:c.G791T:p.R264L;	0.994570394194456	0.826
18	47801971	C	G	18	50275601	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.G791C:p.R264P;MBD1:NM_001204151:exon7:c.G791C:p.R264P;MBD1:NM_001204137:exon8:c.G791C:p.R264P;MBD1:NM_015845:exon8:c.G791C:p.R264P;MBD1:NM_001204142:exon8:c.G791C:p.R264P;MBD1:NM_001204143:exon8:c.G791C:p.R264P;MBD1:NM_001204138:exon8:c.G791C:p.R264P;MBD1:NM_015846:exon8:c.G791C:p.R264P;MBD1:NM_001204140:exon8:c.G791C:p.R264P;MBD1:NM_001204139:exon8:c.G791C:p.R264P;MBD1:NM_015844:exon8:c.G791C:p.R264P;MBD1:NM_001204136:exon8:c.G791C:p.R264P;MBD1:NM_015847:exon7:c.G644C:p.R215P;MBD1:NM_001204141:exon7:c.G644C:p.R215P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000424334:exon8:c.G869C:p.R290P;ENSG00000141644:ENST00000591535:exon7:c.G791C:p.R264P;ENSG00000141644:ENST00000398493:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000398488:exon7:c.G791C:p.R264P;ENSG00000141644:ENST00000353909:exon7:c.G644C:p.R215P;ENSG00000141644:ENST00000339998:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000591416:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000269471:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000457839:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000590208:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000347968:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000382948:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000588937:exon7:c.G791C:p.R264P;ENSG00000141644:ENST00000349085:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000436910:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000269468:exon8:c.G791C:p.R264P;ENSG00000141644:ENST00000398495:exon7:c.G791C:p.R264P;ENSG00000141644:ENST00000585672:exon7:c.G644C:p.R215P;ENSG00000141644:ENST00000587605:exon8:c.G791C:p.R264P;	0.989007689997509	0.842
18	47801971	C	T	18	50275601	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.G791A:p.R264Q;MBD1:NM_001204151:exon7:c.G791A:p.R264Q;MBD1:NM_001204137:exon8:c.G791A:p.R264Q;MBD1:NM_015845:exon8:c.G791A:p.R264Q;MBD1:NM_001204142:exon8:c.G791A:p.R264Q;MBD1:NM_001204143:exon8:c.G791A:p.R264Q;MBD1:NM_001204138:exon8:c.G791A:p.R264Q;MBD1:NM_015846:exon8:c.G791A:p.R264Q;MBD1:NM_001204140:exon8:c.G791A:p.R264Q;MBD1:NM_001204139:exon8:c.G791A:p.R264Q;MBD1:NM_015844:exon8:c.G791A:p.R264Q;MBD1:NM_001204136:exon8:c.G791A:p.R264Q;MBD1:NM_015847:exon7:c.G644A:p.R215Q;MBD1:NM_001204141:exon7:c.G644A:p.R215Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000424334:exon8:c.G869A:p.R290Q;ENSG00000141644:ENST00000591535:exon7:c.G791A:p.R264Q;ENSG00000141644:ENST00000398493:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000398488:exon7:c.G791A:p.R264Q;ENSG00000141644:ENST00000353909:exon7:c.G644A:p.R215Q;ENSG00000141644:ENST00000339998:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000591416:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000269471:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000457839:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000590208:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000347968:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000382948:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000588937:exon7:c.G791A:p.R264Q;ENSG00000141644:ENST00000349085:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000436910:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000269468:exon8:c.G791A:p.R264Q;ENSG00000141644:ENST00000398495:exon7:c.G791A:p.R264Q;ENSG00000141644:ENST00000585672:exon7:c.G644A:p.R215Q;ENSG00000141644:ENST00000587605:exon8:c.G791A:p.R264Q;	0.959043306851711	0.652
18	47801972	G	A	18	50275602	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.C790T:p.R264W;MBD1:NM_001204151:exon7:c.C790T:p.R264W;MBD1:NM_001204137:exon8:c.C790T:p.R264W;MBD1:NM_015845:exon8:c.C790T:p.R264W;MBD1:NM_001204142:exon8:c.C790T:p.R264W;MBD1:NM_001204143:exon8:c.C790T:p.R264W;MBD1:NM_001204138:exon8:c.C790T:p.R264W;MBD1:NM_015846:exon8:c.C790T:p.R264W;MBD1:NM_001204140:exon8:c.C790T:p.R264W;MBD1:NM_001204139:exon8:c.C790T:p.R264W;MBD1:NM_015844:exon8:c.C790T:p.R264W;MBD1:NM_001204136:exon8:c.C790T:p.R264W;MBD1:NM_015847:exon7:c.C643T:p.R215W;MBD1:NM_001204141:exon7:c.C643T:p.R215W;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000424334:exon8:c.C868T:p.R290W;ENSG00000141644:ENST00000591535:exon7:c.C790T:p.R264W;ENSG00000141644:ENST00000398493:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000398488:exon7:c.C790T:p.R264W;ENSG00000141644:ENST00000353909:exon7:c.C643T:p.R215W;ENSG00000141644:ENST00000339998:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000591416:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000269471:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000457839:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000590208:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000347968:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000382948:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000588937:exon7:c.C790T:p.R264W;ENSG00000141644:ENST00000349085:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000436910:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000269468:exon8:c.C790T:p.R264W;ENSG00000141644:ENST00000398495:exon7:c.C790T:p.R264W;ENSG00000141644:ENST00000585672:exon7:c.C643T:p.R215W;ENSG00000141644:ENST00000587605:exon8:c.C790T:p.R264W;	0.581665927995728	0.46
18	47801972	G	C	18	50275602	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.C790G:p.R264G;MBD1:NM_001204151:exon7:c.C790G:p.R264G;MBD1:NM_001204137:exon8:c.C790G:p.R264G;MBD1:NM_015845:exon8:c.C790G:p.R264G;MBD1:NM_001204142:exon8:c.C790G:p.R264G;MBD1:NM_001204143:exon8:c.C790G:p.R264G;MBD1:NM_001204138:exon8:c.C790G:p.R264G;MBD1:NM_015846:exon8:c.C790G:p.R264G;MBD1:NM_001204140:exon8:c.C790G:p.R264G;MBD1:NM_001204139:exon8:c.C790G:p.R264G;MBD1:NM_015844:exon8:c.C790G:p.R264G;MBD1:NM_001204136:exon8:c.C790G:p.R264G;MBD1:NM_015847:exon7:c.C643G:p.R215G;MBD1:NM_001204141:exon7:c.C643G:p.R215G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000424334:exon8:c.C868G:p.R290G;ENSG00000141644:ENST00000591535:exon7:c.C790G:p.R264G;ENSG00000141644:ENST00000398493:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000398488:exon7:c.C790G:p.R264G;ENSG00000141644:ENST00000353909:exon7:c.C643G:p.R215G;ENSG00000141644:ENST00000339998:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000591416:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000269471:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000457839:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000590208:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000347968:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000382948:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000588937:exon7:c.C790G:p.R264G;ENSG00000141644:ENST00000349085:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000436910:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000269468:exon8:c.C790G:p.R264G;ENSG00000141644:ENST00000398495:exon7:c.C790G:p.R264G;ENSG00000141644:ENST00000585672:exon7:c.C643G:p.R215G;ENSG00000141644:ENST00000587605:exon8:c.C790G:p.R264G;	0.113328861543788	0.356
18	47801972	G	T	18	50275602	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon8:c.C790A:p.R264R;MBD1:NM_001204151:exon7:c.C790A:p.R264R;MBD1:NM_001204137:exon8:c.C790A:p.R264R;MBD1:NM_015845:exon8:c.C790A:p.R264R;MBD1:NM_001204142:exon8:c.C790A:p.R264R;MBD1:NM_001204143:exon8:c.C790A:p.R264R;MBD1:NM_001204138:exon8:c.C790A:p.R264R;MBD1:NM_015846:exon8:c.C790A:p.R264R;MBD1:NM_001204140:exon8:c.C790A:p.R264R;MBD1:NM_001204139:exon8:c.C790A:p.R264R;MBD1:NM_015844:exon8:c.C790A:p.R264R;MBD1:NM_001204136:exon8:c.C790A:p.R264R;MBD1:NM_015847:exon7:c.C643A:p.R215R;MBD1:NM_001204141:exon7:c.C643A:p.R215R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000424334:exon8:c.C868A:p.R290R;ENSG00000141644:ENST00000591535:exon7:c.C790A:p.R264R;ENSG00000141644:ENST00000398493:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000398488:exon7:c.C790A:p.R264R;ENSG00000141644:ENST00000353909:exon7:c.C643A:p.R215R;ENSG00000141644:ENST00000339998:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000591416:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000269471:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000457839:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000590208:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000347968:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000382948:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000588937:exon7:c.C790A:p.R264R;ENSG00000141644:ENST00000349085:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000436910:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000269468:exon8:c.C790A:p.R264R;ENSG00000141644:ENST00000398495:exon7:c.C790A:p.R264R;ENSG00000141644:ENST00000585672:exon7:c.C643A:p.R215R;ENSG00000141644:ENST00000587605:exon8:c.C790A:p.R264R;	0.00898281629594027	0.146
18	47802097	C	A	18	50275727	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.G665T:p.S222I;MBD1:NM_001204151:exon7:c.G665T:p.S222I;MBD1:NM_001204137:exon8:c.G665T:p.S222I;MBD1:NM_015845:exon8:c.G665T:p.S222I;MBD1:NM_001204142:exon8:c.G665T:p.S222I;MBD1:NM_001204143:exon8:c.G665T:p.S222I;MBD1:NM_001204138:exon8:c.G665T:p.S222I;MBD1:NM_015846:exon8:c.G665T:p.S222I;MBD1:NM_001204140:exon8:c.G665T:p.S222I;MBD1:NM_001204139:exon8:c.G665T:p.S222I;MBD1:NM_015844:exon8:c.G665T:p.S222I;MBD1:NM_001204136:exon8:c.G665T:p.S222I;MBD1:NM_015847:exon7:c.G518T:p.S173I;MBD1:NM_001204141:exon7:c.G518T:p.S173I;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000424334:exon8:c.G743T:p.S248I;ENSG00000141644:ENST00000591535:exon7:c.G665T:p.S222I;ENSG00000141644:ENST00000398493:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000398488:exon7:c.G665T:p.S222I;ENSG00000141644:ENST00000353909:exon7:c.G518T:p.S173I;ENSG00000141644:ENST00000339998:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000591416:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000269471:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000457839:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000590208:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000347968:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000382948:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000588937:exon7:c.G665T:p.S222I;ENSG00000141644:ENST00000349085:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000436910:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000269468:exon8:c.G665T:p.S222I;ENSG00000141644:ENST00000398495:exon7:c.G665T:p.S222I;ENSG00000141644:ENST00000585672:exon7:c.G518T:p.S173I;ENSG00000141644:ENST00000587605:exon8:c.G665T:p.S222I;	0.0559861423249585	0.26
18	47802097	C	G	18	50275727	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.G665C:p.S222T;MBD1:NM_001204151:exon7:c.G665C:p.S222T;MBD1:NM_001204137:exon8:c.G665C:p.S222T;MBD1:NM_015845:exon8:c.G665C:p.S222T;MBD1:NM_001204142:exon8:c.G665C:p.S222T;MBD1:NM_001204143:exon8:c.G665C:p.S222T;MBD1:NM_001204138:exon8:c.G665C:p.S222T;MBD1:NM_015846:exon8:c.G665C:p.S222T;MBD1:NM_001204140:exon8:c.G665C:p.S222T;MBD1:NM_001204139:exon8:c.G665C:p.S222T;MBD1:NM_015844:exon8:c.G665C:p.S222T;MBD1:NM_001204136:exon8:c.G665C:p.S222T;MBD1:NM_015847:exon7:c.G518C:p.S173T;MBD1:NM_001204141:exon7:c.G518C:p.S173T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000424334:exon8:c.G743C:p.S248T;ENSG00000141644:ENST00000591535:exon7:c.G665C:p.S222T;ENSG00000141644:ENST00000398493:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000398488:exon7:c.G665C:p.S222T;ENSG00000141644:ENST00000353909:exon7:c.G518C:p.S173T;ENSG00000141644:ENST00000339998:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000591416:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000269471:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000457839:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000590208:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000347968:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000382948:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000588937:exon7:c.G665C:p.S222T;ENSG00000141644:ENST00000349085:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000436910:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000269468:exon8:c.G665C:p.S222T;ENSG00000141644:ENST00000398495:exon7:c.G665C:p.S222T;ENSG00000141644:ENST00000585672:exon7:c.G518C:p.S173T;ENSG00000141644:ENST00000587605:exon8:c.G665C:p.S222T;	0.017075473391741	0.206
18	47802097	C	T	18	50275727	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.G665A:p.S222N;MBD1:NM_001204151:exon7:c.G665A:p.S222N;MBD1:NM_001204137:exon8:c.G665A:p.S222N;MBD1:NM_015845:exon8:c.G665A:p.S222N;MBD1:NM_001204142:exon8:c.G665A:p.S222N;MBD1:NM_001204143:exon8:c.G665A:p.S222N;MBD1:NM_001204138:exon8:c.G665A:p.S222N;MBD1:NM_015846:exon8:c.G665A:p.S222N;MBD1:NM_001204140:exon8:c.G665A:p.S222N;MBD1:NM_001204139:exon8:c.G665A:p.S222N;MBD1:NM_015844:exon8:c.G665A:p.S222N;MBD1:NM_001204136:exon8:c.G665A:p.S222N;MBD1:NM_015847:exon7:c.G518A:p.S173N;MBD1:NM_001204141:exon7:c.G518A:p.S173N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000424334:exon8:c.G743A:p.S248N;ENSG00000141644:ENST00000591535:exon7:c.G665A:p.S222N;ENSG00000141644:ENST00000398493:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000398488:exon7:c.G665A:p.S222N;ENSG00000141644:ENST00000353909:exon7:c.G518A:p.S173N;ENSG00000141644:ENST00000339998:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000591416:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000269471:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000457839:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000590208:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000347968:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000382948:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000588937:exon7:c.G665A:p.S222N;ENSG00000141644:ENST00000349085:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000436910:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000269468:exon8:c.G665A:p.S222N;ENSG00000141644:ENST00000398495:exon7:c.G665A:p.S222N;ENSG00000141644:ENST00000585672:exon7:c.G518A:p.S173N;ENSG00000141644:ENST00000587605:exon8:c.G665A:p.S222N;	0.0189623615054175	0.188
18	47802098	T	A	18	50275728	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.A664T:p.S222C;MBD1:NM_001204151:exon7:c.A664T:p.S222C;MBD1:NM_001204137:exon8:c.A664T:p.S222C;MBD1:NM_015845:exon8:c.A664T:p.S222C;MBD1:NM_001204142:exon8:c.A664T:p.S222C;MBD1:NM_001204143:exon8:c.A664T:p.S222C;MBD1:NM_001204138:exon8:c.A664T:p.S222C;MBD1:NM_015846:exon8:c.A664T:p.S222C;MBD1:NM_001204140:exon8:c.A664T:p.S222C;MBD1:NM_001204139:exon8:c.A664T:p.S222C;MBD1:NM_015844:exon8:c.A664T:p.S222C;MBD1:NM_001204136:exon8:c.A664T:p.S222C;MBD1:NM_015847:exon7:c.A517T:p.S173C;MBD1:NM_001204141:exon7:c.A517T:p.S173C;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000424334:exon8:c.A742T:p.S248C;ENSG00000141644:ENST00000591535:exon7:c.A664T:p.S222C;ENSG00000141644:ENST00000398493:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000398488:exon7:c.A664T:p.S222C;ENSG00000141644:ENST00000353909:exon7:c.A517T:p.S173C;ENSG00000141644:ENST00000339998:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000591416:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000269471:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000457839:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000590208:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000347968:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000382948:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000588937:exon7:c.A664T:p.S222C;ENSG00000141644:ENST00000349085:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000436910:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000269468:exon8:c.A664T:p.S222C;ENSG00000141644:ENST00000398495:exon7:c.A664T:p.S222C;ENSG00000141644:ENST00000585672:exon7:c.A517T:p.S173C;ENSG00000141644:ENST00000587605:exon8:c.A664T:p.S222C;	0.561107368934863	0.488
18	47802098	T	C	18	50275728	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.A664G:p.S222G;MBD1:NM_001204151:exon7:c.A664G:p.S222G;MBD1:NM_001204137:exon8:c.A664G:p.S222G;MBD1:NM_015845:exon8:c.A664G:p.S222G;MBD1:NM_001204142:exon8:c.A664G:p.S222G;MBD1:NM_001204143:exon8:c.A664G:p.S222G;MBD1:NM_001204138:exon8:c.A664G:p.S222G;MBD1:NM_015846:exon8:c.A664G:p.S222G;MBD1:NM_001204140:exon8:c.A664G:p.S222G;MBD1:NM_001204139:exon8:c.A664G:p.S222G;MBD1:NM_015844:exon8:c.A664G:p.S222G;MBD1:NM_001204136:exon8:c.A664G:p.S222G;MBD1:NM_015847:exon7:c.A517G:p.S173G;MBD1:NM_001204141:exon7:c.A517G:p.S173G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000424334:exon8:c.A742G:p.S248G;ENSG00000141644:ENST00000591535:exon7:c.A664G:p.S222G;ENSG00000141644:ENST00000398493:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000398488:exon7:c.A664G:p.S222G;ENSG00000141644:ENST00000353909:exon7:c.A517G:p.S173G;ENSG00000141644:ENST00000339998:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000591416:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000269471:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000457839:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000590208:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000347968:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000382948:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000588937:exon7:c.A664G:p.S222G;ENSG00000141644:ENST00000349085:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000436910:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000269468:exon8:c.A664G:p.S222G;ENSG00000141644:ENST00000398495:exon7:c.A664G:p.S222G;ENSG00000141644:ENST00000585672:exon7:c.A517G:p.S173G;ENSG00000141644:ENST00000587605:exon8:c.A664G:p.S222G;	0.00474281892720902	0.082
18	47802098	T	G	18	50275728	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon8:c.A664C:p.S222R;MBD1:NM_001204151:exon7:c.A664C:p.S222R;MBD1:NM_001204137:exon8:c.A664C:p.S222R;MBD1:NM_015845:exon8:c.A664C:p.S222R;MBD1:NM_001204142:exon8:c.A664C:p.S222R;MBD1:NM_001204143:exon8:c.A664C:p.S222R;MBD1:NM_001204138:exon8:c.A664C:p.S222R;MBD1:NM_015846:exon8:c.A664C:p.S222R;MBD1:NM_001204140:exon8:c.A664C:p.S222R;MBD1:NM_001204139:exon8:c.A664C:p.S222R;MBD1:NM_015844:exon8:c.A664C:p.S222R;MBD1:NM_001204136:exon8:c.A664C:p.S222R;MBD1:NM_015847:exon7:c.A517C:p.S173R;MBD1:NM_001204141:exon7:c.A517C:p.S173R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000424334:exon8:c.A742C:p.S248R;ENSG00000141644:ENST00000591535:exon7:c.A664C:p.S222R;ENSG00000141644:ENST00000398493:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000398488:exon7:c.A664C:p.S222R;ENSG00000141644:ENST00000353909:exon7:c.A517C:p.S173R;ENSG00000141644:ENST00000339998:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000591416:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000269471:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000457839:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000590208:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000347968:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000382948:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000588937:exon7:c.A664C:p.S222R;ENSG00000141644:ENST00000349085:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000436910:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000269468:exon8:c.A664C:p.S222R;ENSG00000141644:ENST00000398495:exon7:c.A664C:p.S222R;ENSG00000141644:ENST00000585672:exon7:c.A517C:p.S173R;ENSG00000141644:ENST00000587605:exon8:c.A664C:p.S222R;	0.608066017026002	0.542
18	47802099	C	A	18	50275729	y	y	splicing	MBD1(NM_001204139:exon9:c.664-1G>T;NM_001204141:exon8:c.517-1G>T;NM_002384:exon9:c.664-1G>T;NM_015847:exon8:c.517-1G>T;NM_015846:exon9:c.664-1G>T;NM_015845:exon9:c.664-1G>T;NM_001204136:exon9:c.664-1G>T;NM_015844:exon9:c.664-1G>T;NM_001204143:exon9:c.664-1G>T;NM_001204142:exon9:c.664-1G>T;NM_001204140:exon9:c.664-1G>T;NM_001204138:exon9:c.664-1G>T;NM_001204137:exon9:c.664-1G>T;NM_001204151:exon8:c.664-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.517-1G>T;ENST00000592060:exon5:c.291-1G>T;ENST00000382948:exon9:c.664-1G>T;ENST00000353909:exon8:c.517-1G>T;ENST00000591416:exon9:c.664-1G>T;ENST00000349085:exon9:c.664-1G>T;ENST00000436910:exon9:c.664-1G>T;ENST00000347968:exon9:c.664-1G>T;ENST00000269468:exon9:c.664-1G>T;ENST00000269471:exon9:c.664-1G>T;ENST00000339998:exon9:c.664-1G>T;ENST00000590208:exon9:c.664-1G>T;ENST00000587605:exon9:c.664-1G>T;ENST00000588937:exon8:c.664-1G>T;ENST00000424334:exon9:c.742-1G>T;ENST00000585595:exon9:c.664-1G>T;ENST00000398495:exon8:c.664-1G>T;ENST00000457839:exon9:c.664-1G>T;ENST00000398493:exon9:c.664-1G>T;ENST00000591535:exon8:c.664-1G>T;ENST00000398488:exon8:c.664-1G>T;ENST00000589733:exon5:c.266-1G>T)	.	.	0.99997633459954	0.948
18	47802099	C	G	18	50275729	y	y	splicing	MBD1(NM_001204139:exon9:c.664-1G>C;NM_001204141:exon8:c.517-1G>C;NM_002384:exon9:c.664-1G>C;NM_015847:exon8:c.517-1G>C;NM_015846:exon9:c.664-1G>C;NM_015845:exon9:c.664-1G>C;NM_001204136:exon9:c.664-1G>C;NM_015844:exon9:c.664-1G>C;NM_001204143:exon9:c.664-1G>C;NM_001204142:exon9:c.664-1G>C;NM_001204140:exon9:c.664-1G>C;NM_001204138:exon9:c.664-1G>C;NM_001204137:exon9:c.664-1G>C;NM_001204151:exon8:c.664-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.517-1G>C;ENST00000592060:exon5:c.291-1G>C;ENST00000382948:exon9:c.664-1G>C;ENST00000353909:exon8:c.517-1G>C;ENST00000591416:exon9:c.664-1G>C;ENST00000349085:exon9:c.664-1G>C;ENST00000436910:exon9:c.664-1G>C;ENST00000347968:exon9:c.664-1G>C;ENST00000269468:exon9:c.664-1G>C;ENST00000269471:exon9:c.664-1G>C;ENST00000339998:exon9:c.664-1G>C;ENST00000590208:exon9:c.664-1G>C;ENST00000587605:exon9:c.664-1G>C;ENST00000588937:exon8:c.664-1G>C;ENST00000424334:exon9:c.742-1G>C;ENST00000585595:exon9:c.664-1G>C;ENST00000398495:exon8:c.664-1G>C;ENST00000457839:exon9:c.664-1G>C;ENST00000398493:exon9:c.664-1G>C;ENST00000591535:exon8:c.664-1G>C;ENST00000398488:exon8:c.664-1G>C;ENST00000589733:exon5:c.266-1G>C)	.	.	0.99997633459954	0.948
18	47802099	C	T	18	50275729	y	y	splicing	MBD1(NM_001204139:exon9:c.664-1G>A;NM_001204141:exon8:c.517-1G>A;NM_002384:exon9:c.664-1G>A;NM_015847:exon8:c.517-1G>A;NM_015846:exon9:c.664-1G>A;NM_015845:exon9:c.664-1G>A;NM_001204136:exon9:c.664-1G>A;NM_015844:exon9:c.664-1G>A;NM_001204143:exon9:c.664-1G>A;NM_001204142:exon9:c.664-1G>A;NM_001204140:exon9:c.664-1G>A;NM_001204138:exon9:c.664-1G>A;NM_001204137:exon9:c.664-1G>A;NM_001204151:exon8:c.664-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.517-1G>A;ENST00000592060:exon5:c.291-1G>A;ENST00000382948:exon9:c.664-1G>A;ENST00000353909:exon8:c.517-1G>A;ENST00000591416:exon9:c.664-1G>A;ENST00000349085:exon9:c.664-1G>A;ENST00000436910:exon9:c.664-1G>A;ENST00000347968:exon9:c.664-1G>A;ENST00000269468:exon9:c.664-1G>A;ENST00000269471:exon9:c.664-1G>A;ENST00000339998:exon9:c.664-1G>A;ENST00000590208:exon9:c.664-1G>A;ENST00000587605:exon9:c.664-1G>A;ENST00000588937:exon8:c.664-1G>A;ENST00000424334:exon9:c.742-1G>A;ENST00000585595:exon9:c.664-1G>A;ENST00000398495:exon8:c.664-1G>A;ENST00000457839:exon9:c.664-1G>A;ENST00000398493:exon9:c.664-1G>A;ENST00000591535:exon8:c.664-1G>A;ENST00000398488:exon8:c.664-1G>A;ENST00000589733:exon5:c.266-1G>A)	.	.	0.99997633459954	0.948
18	47802100	T	A	18	50275730	y	y	splicing	MBD1(NM_001204139:exon9:c.664-2A>T;NM_001204141:exon8:c.517-2A>T;NM_002384:exon9:c.664-2A>T;NM_015847:exon8:c.517-2A>T;NM_015846:exon9:c.664-2A>T;NM_015845:exon9:c.664-2A>T;NM_001204136:exon9:c.664-2A>T;NM_015844:exon9:c.664-2A>T;NM_001204143:exon9:c.664-2A>T;NM_001204142:exon9:c.664-2A>T;NM_001204140:exon9:c.664-2A>T;NM_001204138:exon9:c.664-2A>T;NM_001204137:exon9:c.664-2A>T;NM_001204151:exon8:c.664-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.517-2A>T;ENST00000592060:exon5:c.291-2A>T;ENST00000382948:exon9:c.664-2A>T;ENST00000353909:exon8:c.517-2A>T;ENST00000591416:exon9:c.664-2A>T;ENST00000349085:exon9:c.664-2A>T;ENST00000436910:exon9:c.664-2A>T;ENST00000347968:exon9:c.664-2A>T;ENST00000269468:exon9:c.664-2A>T;ENST00000269471:exon9:c.664-2A>T;ENST00000339998:exon9:c.664-2A>T;ENST00000590208:exon9:c.664-2A>T;ENST00000587605:exon9:c.664-2A>T;ENST00000588937:exon8:c.664-2A>T;ENST00000424334:exon9:c.742-2A>T;ENST00000585595:exon9:c.664-2A>T;ENST00000398495:exon8:c.664-2A>T;ENST00000457839:exon9:c.664-2A>T;ENST00000398493:exon9:c.664-2A>T;ENST00000591535:exon8:c.664-2A>T;ENST00000398488:exon8:c.664-2A>T;ENST00000589733:exon5:c.266-2A>T)	.	.	0.999988624979899	0.94
18	47802100	T	C	18	50275730	y	y	splicing	MBD1(NM_001204139:exon9:c.664-2A>G;NM_001204141:exon8:c.517-2A>G;NM_002384:exon9:c.664-2A>G;NM_015847:exon8:c.517-2A>G;NM_015846:exon9:c.664-2A>G;NM_015845:exon9:c.664-2A>G;NM_001204136:exon9:c.664-2A>G;NM_015844:exon9:c.664-2A>G;NM_001204143:exon9:c.664-2A>G;NM_001204142:exon9:c.664-2A>G;NM_001204140:exon9:c.664-2A>G;NM_001204138:exon9:c.664-2A>G;NM_001204137:exon9:c.664-2A>G;NM_001204151:exon8:c.664-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.517-2A>G;ENST00000592060:exon5:c.291-2A>G;ENST00000382948:exon9:c.664-2A>G;ENST00000353909:exon8:c.517-2A>G;ENST00000591416:exon9:c.664-2A>G;ENST00000349085:exon9:c.664-2A>G;ENST00000436910:exon9:c.664-2A>G;ENST00000347968:exon9:c.664-2A>G;ENST00000269468:exon9:c.664-2A>G;ENST00000269471:exon9:c.664-2A>G;ENST00000339998:exon9:c.664-2A>G;ENST00000590208:exon9:c.664-2A>G;ENST00000587605:exon9:c.664-2A>G;ENST00000588937:exon8:c.664-2A>G;ENST00000424334:exon9:c.742-2A>G;ENST00000585595:exon9:c.664-2A>G;ENST00000398495:exon8:c.664-2A>G;ENST00000457839:exon9:c.664-2A>G;ENST00000398493:exon9:c.664-2A>G;ENST00000591535:exon8:c.664-2A>G;ENST00000398488:exon8:c.664-2A>G;ENST00000589733:exon5:c.266-2A>G)	.	.	0.999988624979899	0.94
18	47802100	T	G	18	50275730	y	y	splicing	MBD1(NM_001204139:exon9:c.664-2A>C;NM_001204141:exon8:c.517-2A>C;NM_002384:exon9:c.664-2A>C;NM_015847:exon8:c.517-2A>C;NM_015846:exon9:c.664-2A>C;NM_015845:exon9:c.664-2A>C;NM_001204136:exon9:c.664-2A>C;NM_015844:exon9:c.664-2A>C;NM_001204143:exon9:c.664-2A>C;NM_001204142:exon9:c.664-2A>C;NM_001204140:exon9:c.664-2A>C;NM_001204138:exon9:c.664-2A>C;NM_001204137:exon9:c.664-2A>C;NM_001204151:exon8:c.664-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon8:c.517-2A>C;ENST00000592060:exon5:c.291-2A>C;ENST00000382948:exon9:c.664-2A>C;ENST00000353909:exon8:c.517-2A>C;ENST00000591416:exon9:c.664-2A>C;ENST00000349085:exon9:c.664-2A>C;ENST00000436910:exon9:c.664-2A>C;ENST00000347968:exon9:c.664-2A>C;ENST00000269468:exon9:c.664-2A>C;ENST00000269471:exon9:c.664-2A>C;ENST00000339998:exon9:c.664-2A>C;ENST00000590208:exon9:c.664-2A>C;ENST00000587605:exon9:c.664-2A>C;ENST00000588937:exon8:c.664-2A>C;ENST00000424334:exon9:c.742-2A>C;ENST00000585595:exon9:c.664-2A>C;ENST00000398495:exon8:c.664-2A>C;ENST00000457839:exon9:c.664-2A>C;ENST00000398493:exon9:c.664-2A>C;ENST00000591535:exon8:c.664-2A>C;ENST00000398488:exon8:c.664-2A>C;ENST00000589733:exon5:c.266-2A>C)	.	.	0.999988624979899	0.94
18	47802101	G	A	18	50275731	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.15551299197806	0.252
18	47802101	G	C	18	50275731	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999963186339728	0.876
18	47802101	G	T	18	50275731	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999857808267163	0.922
18	47802102	T	A	18	50275732	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00558951981017236	0.12
18	47802102	T	C	18	50275732	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.931322325993722	0.622
18	47802102	T	G	18	50275732	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.81490397640338E-4	0.044
18	47802103	T	A	18	50275733	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.9714230930148E-5	0.01
18	47802103	T	C	18	50275733	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.01693818607008E-5	0.01
18	47802103	T	G	18	50275733	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.0056502160842E-4	0.016
18	47802104	G	A	18	50275734	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.21316578742885E-5	0.006
18	47802104	G	C	18	50275734	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.99627331953304E-4	0.208
18	47802104	G	T	18	50275734	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.99627331953304E-4	0.21
18	47802105	G	A	18	50275735	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.93425427420924E-5	0.038
18	47802105	G	C	18	50275735	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0898013939697225	0.352
18	47802105	G	T	18	50275735	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0898013939697225	0.334
18	47802106	C	A	18	50275736	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.5098808559698E-5	0.028
18	47802106	C	G	18	50275736	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.49410602319199E-5	0.058
18	47802106	C	T	18	50275736	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.14582606520086E-4	0.074
18	47802107	G	A	18	50275737	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.46744860098944E-5	0.0
18	47802107	G	C	18	50275737	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.26319386000807E-4	0.126
18	47802107	G	T	18	50275737	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999886621302052	0.966
18	47802108	G	A	18	50275738	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.40040948170986E-5	0.116
18	47802108	G	C	18	50275738	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.3461452676066E-4	0.052
18	47802108	G	T	18	50275738	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00268490476263765	0.15
18	47802109	G	A	18	50275739	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.70498330416488E-5	0.096
18	47802109	G	C	18	50275739	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.26532807915299E-4	0.292
18	47802109	G	T	18	50275739	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00356756791930505	0.186
18	47802110	G	A	18	50275740	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.40040948170986E-5	0.042
18	47802110	G	C	18	50275740	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.03252098596224E-4	0.158
18	47802110	G	T	18	50275740	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00102265051950152	0.176
18	47802197	C	A	18	50275827	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.81474896170976E-5	0.0
18	47802197	C	G	18	50275827	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.81474896170976E-5	0.0
18	47802197	C	T	18	50275827	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.81474896170976E-5	0.0
18	47802198	A	C	18	50275828	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.18618429244366E-5	0.0
18	47802198	A	G	18	50275828	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.18618429244366E-5	0.0
18	47802198	A	T	18	50275828	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.11443369865622E-5	0.0
18	47802199	A	C	18	50275829	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0120142566234961	0.368
18	47802199	A	G	18	50275829	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.166753026161556	0.424
18	47802199	A	T	18	50275829	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.608761390275876	0.52
18	47802200	C	A	18	50275830	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99989542780814	0.916
18	47802200	C	G	18	50275830	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99995542466594	0.886
18	47802200	C	T	18	50275830	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999874178977643	0.956
18	47802201	T	A	18	50275831	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.98986041518624	0.75
18	47802201	T	C	18	50275831	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.990351870283419	0.708
18	47802201	T	G	18	50275831	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.641899912055769	0.68
18	47802202	C	A	18	50275832	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.963336580013911	0.612
18	47802202	C	G	18	50275832	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.901895382225744	0.594
18	47802202	C	T	18	50275832	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.35329652989145E-4	0.0
18	47802203	A	C	18	50275833	y	y	splicing	MBD1(NM_001204139:exon8:c.663+2T>G;NM_002384:exon8:c.663+2T>G;NM_015846:exon8:c.663+2T>G;NM_015845:exon8:c.663+2T>G;NM_001204136:exon8:c.663+2T>G;NM_015844:exon8:c.663+2T>G;NM_001204143:exon8:c.663+2T>G;NM_001204142:exon8:c.663+2T>G;NM_001204140:exon8:c.663+2T>G;NM_001204138:exon8:c.663+2T>G;NM_001204137:exon8:c.663+2T>G;NM_001204151:exon7:c.663+2T>G)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.663+2T>G;ENST00000591416:exon8:c.663+2T>G;ENST00000349085:exon8:c.663+2T>G;ENST00000436910:exon8:c.663+2T>G;ENST00000347968:exon8:c.663+2T>G;ENST00000269468:exon8:c.663+2T>G;ENST00000269471:exon8:c.663+2T>G;ENST00000339998:exon8:c.663+2T>G;ENST00000590208:exon8:c.663+2T>G;ENST00000587605:exon8:c.663+2T>G;ENST00000588937:exon7:c.663+2T>G;ENST00000424334:exon8:c.741+2T>G;ENST00000585595:exon8:c.663+2T>G;ENST00000398495:exon7:c.663+2T>G;ENST00000457839:exon8:c.663+2T>G;ENST00000398493:exon8:c.663+2T>G;ENST00000591535:exon7:c.663+2T>G;ENST00000398488:exon7:c.663+2T>G;ENST00000589733:exon4:c.265+2T>G)	.	.	0.999989917668626	0.926
18	47802203	A	G	18	50275833	y	y	splicing	MBD1(NM_001204139:exon8:c.663+2T>C;NM_002384:exon8:c.663+2T>C;NM_015846:exon8:c.663+2T>C;NM_015845:exon8:c.663+2T>C;NM_001204136:exon8:c.663+2T>C;NM_015844:exon8:c.663+2T>C;NM_001204143:exon8:c.663+2T>C;NM_001204142:exon8:c.663+2T>C;NM_001204140:exon8:c.663+2T>C;NM_001204138:exon8:c.663+2T>C;NM_001204137:exon8:c.663+2T>C;NM_001204151:exon7:c.663+2T>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.663+2T>C;ENST00000591416:exon8:c.663+2T>C;ENST00000349085:exon8:c.663+2T>C;ENST00000436910:exon8:c.663+2T>C;ENST00000347968:exon8:c.663+2T>C;ENST00000269468:exon8:c.663+2T>C;ENST00000269471:exon8:c.663+2T>C;ENST00000339998:exon8:c.663+2T>C;ENST00000590208:exon8:c.663+2T>C;ENST00000587605:exon8:c.663+2T>C;ENST00000588937:exon7:c.663+2T>C;ENST00000424334:exon8:c.741+2T>C;ENST00000585595:exon8:c.663+2T>C;ENST00000398495:exon7:c.663+2T>C;ENST00000457839:exon8:c.663+2T>C;ENST00000398493:exon8:c.663+2T>C;ENST00000591535:exon7:c.663+2T>C;ENST00000398488:exon7:c.663+2T>C;ENST00000589733:exon4:c.265+2T>C)	.	.	0.999939711763648	0.86
18	47802203	A	T	18	50275833	y	y	splicing	MBD1(NM_001204139:exon8:c.663+2T>A;NM_002384:exon8:c.663+2T>A;NM_015846:exon8:c.663+2T>A;NM_015845:exon8:c.663+2T>A;NM_001204136:exon8:c.663+2T>A;NM_015844:exon8:c.663+2T>A;NM_001204143:exon8:c.663+2T>A;NM_001204142:exon8:c.663+2T>A;NM_001204140:exon8:c.663+2T>A;NM_001204138:exon8:c.663+2T>A;NM_001204137:exon8:c.663+2T>A;NM_001204151:exon7:c.663+2T>A)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.663+2T>A;ENST00000591416:exon8:c.663+2T>A;ENST00000349085:exon8:c.663+2T>A;ENST00000436910:exon8:c.663+2T>A;ENST00000347968:exon8:c.663+2T>A;ENST00000269468:exon8:c.663+2T>A;ENST00000269471:exon8:c.663+2T>A;ENST00000339998:exon8:c.663+2T>A;ENST00000590208:exon8:c.663+2T>A;ENST00000587605:exon8:c.663+2T>A;ENST00000588937:exon7:c.663+2T>A;ENST00000424334:exon8:c.741+2T>A;ENST00000585595:exon8:c.663+2T>A;ENST00000398495:exon7:c.663+2T>A;ENST00000457839:exon8:c.663+2T>A;ENST00000398493:exon8:c.663+2T>A;ENST00000591535:exon7:c.663+2T>A;ENST00000398488:exon7:c.663+2T>A;ENST00000589733:exon4:c.265+2T>A)	.	.	0.999989917668626	0.924
18	47802204	C	A	18	50275834	y	y	splicing	MBD1(NM_001204139:exon8:c.663+1G>T;NM_002384:exon8:c.663+1G>T;NM_015846:exon8:c.663+1G>T;NM_015845:exon8:c.663+1G>T;NM_001204136:exon8:c.663+1G>T;NM_015844:exon8:c.663+1G>T;NM_001204143:exon8:c.663+1G>T;NM_001204142:exon8:c.663+1G>T;NM_001204140:exon8:c.663+1G>T;NM_001204138:exon8:c.663+1G>T;NM_001204137:exon8:c.663+1G>T;NM_001204151:exon7:c.663+1G>T)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.663+1G>T;ENST00000591416:exon8:c.663+1G>T;ENST00000349085:exon8:c.663+1G>T;ENST00000436910:exon8:c.663+1G>T;ENST00000347968:exon8:c.663+1G>T;ENST00000269468:exon8:c.663+1G>T;ENST00000269471:exon8:c.663+1G>T;ENST00000339998:exon8:c.663+1G>T;ENST00000590208:exon8:c.663+1G>T;ENST00000587605:exon8:c.663+1G>T;ENST00000588937:exon7:c.663+1G>T;ENST00000424334:exon8:c.741+1G>T;ENST00000585595:exon8:c.663+1G>T;ENST00000398495:exon7:c.663+1G>T;ENST00000457839:exon8:c.663+1G>T;ENST00000398493:exon8:c.663+1G>T;ENST00000591535:exon7:c.663+1G>T;ENST00000398488:exon7:c.663+1G>T;ENST00000589733:exon4:c.265+1G>T)	.	.	0.999981760802075	0.942
18	47802204	C	G	18	50275834	y	y	splicing	MBD1(NM_001204139:exon8:c.663+1G>C;NM_002384:exon8:c.663+1G>C;NM_015846:exon8:c.663+1G>C;NM_015845:exon8:c.663+1G>C;NM_001204136:exon8:c.663+1G>C;NM_015844:exon8:c.663+1G>C;NM_001204143:exon8:c.663+1G>C;NM_001204142:exon8:c.663+1G>C;NM_001204140:exon8:c.663+1G>C;NM_001204138:exon8:c.663+1G>C;NM_001204137:exon8:c.663+1G>C;NM_001204151:exon7:c.663+1G>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.663+1G>C;ENST00000591416:exon8:c.663+1G>C;ENST00000349085:exon8:c.663+1G>C;ENST00000436910:exon8:c.663+1G>C;ENST00000347968:exon8:c.663+1G>C;ENST00000269468:exon8:c.663+1G>C;ENST00000269471:exon8:c.663+1G>C;ENST00000339998:exon8:c.663+1G>C;ENST00000590208:exon8:c.663+1G>C;ENST00000587605:exon8:c.663+1G>C;ENST00000588937:exon7:c.663+1G>C;ENST00000424334:exon8:c.741+1G>C;ENST00000585595:exon8:c.663+1G>C;ENST00000398495:exon7:c.663+1G>C;ENST00000457839:exon8:c.663+1G>C;ENST00000398493:exon8:c.663+1G>C;ENST00000591535:exon7:c.663+1G>C;ENST00000398488:exon7:c.663+1G>C;ENST00000589733:exon4:c.265+1G>C)	.	.	0.999981760802075	0.944
18	47802204	C	T	18	50275834	y	y	splicing	MBD1(NM_001204139:exon8:c.663+1G>A;NM_002384:exon8:c.663+1G>A;NM_015846:exon8:c.663+1G>A;NM_015845:exon8:c.663+1G>A;NM_001204136:exon8:c.663+1G>A;NM_015844:exon8:c.663+1G>A;NM_001204143:exon8:c.663+1G>A;NM_001204142:exon8:c.663+1G>A;NM_001204140:exon8:c.663+1G>A;NM_001204138:exon8:c.663+1G>A;NM_001204137:exon8:c.663+1G>A;NM_001204151:exon7:c.663+1G>A)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.663+1G>A;ENST00000591416:exon8:c.663+1G>A;ENST00000349085:exon8:c.663+1G>A;ENST00000436910:exon8:c.663+1G>A;ENST00000347968:exon8:c.663+1G>A;ENST00000269468:exon8:c.663+1G>A;ENST00000269471:exon8:c.663+1G>A;ENST00000339998:exon8:c.663+1G>A;ENST00000590208:exon8:c.663+1G>A;ENST00000587605:exon8:c.663+1G>A;ENST00000588937:exon7:c.663+1G>A;ENST00000424334:exon8:c.741+1G>A;ENST00000585595:exon8:c.663+1G>A;ENST00000398495:exon7:c.663+1G>A;ENST00000457839:exon8:c.663+1G>A;ENST00000398493:exon8:c.663+1G>A;ENST00000591535:exon7:c.663+1G>A;ENST00000398488:exon7:c.663+1G>A;ENST00000589733:exon4:c.265+1G>A)	.	.	0.999981760802075	0.942
18	47802205	C	A	18	50275835	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.G663T:p.R221S;MBD1:NM_001204151:exon6:c.G663T:p.R221S;MBD1:NM_001204137:exon7:c.G663T:p.R221S;MBD1:NM_015845:exon7:c.G663T:p.R221S;MBD1:NM_001204142:exon7:c.G663T:p.R221S;MBD1:NM_001204143:exon7:c.G663T:p.R221S;MBD1:NM_001204138:exon7:c.G663T:p.R221S;MBD1:NM_015846:exon7:c.G663T:p.R221S;MBD1:NM_001204140:exon7:c.G663T:p.R221S;MBD1:NM_001204139:exon7:c.G663T:p.R221S;MBD1:NM_015844:exon7:c.G663T:p.R221S;MBD1:NM_001204136:exon7:c.G663T:p.R221S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000424334:exon7:c.G741T:p.R247S;ENSG00000141644:ENST00000591535:exon6:c.G663T:p.R221S;ENSG00000141644:ENST00000398493:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000398488:exon6:c.G663T:p.R221S;ENSG00000141644:ENST00000339998:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000591416:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000269471:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000457839:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000590208:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000347968:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000382948:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000588937:exon6:c.G663T:p.R221S;ENSG00000141644:ENST00000349085:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000436910:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000269468:exon7:c.G663T:p.R221S;ENSG00000141644:ENST00000398495:exon6:c.G663T:p.R221S;ENSG00000141644:ENST00000587605:exon7:c.G663T:p.R221S;	0.990810432141101	0.896
18	47802205	C	G	18	50275835	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.G663C:p.R221S;MBD1:NM_001204151:exon6:c.G663C:p.R221S;MBD1:NM_001204137:exon7:c.G663C:p.R221S;MBD1:NM_015845:exon7:c.G663C:p.R221S;MBD1:NM_001204142:exon7:c.G663C:p.R221S;MBD1:NM_001204143:exon7:c.G663C:p.R221S;MBD1:NM_001204138:exon7:c.G663C:p.R221S;MBD1:NM_015846:exon7:c.G663C:p.R221S;MBD1:NM_001204140:exon7:c.G663C:p.R221S;MBD1:NM_001204139:exon7:c.G663C:p.R221S;MBD1:NM_015844:exon7:c.G663C:p.R221S;MBD1:NM_001204136:exon7:c.G663C:p.R221S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000424334:exon7:c.G741C:p.R247S;ENSG00000141644:ENST00000591535:exon6:c.G663C:p.R221S;ENSG00000141644:ENST00000398493:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000398488:exon6:c.G663C:p.R221S;ENSG00000141644:ENST00000339998:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000591416:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000269471:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000457839:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000590208:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000347968:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000382948:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000588937:exon6:c.G663C:p.R221S;ENSG00000141644:ENST00000349085:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000436910:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000269468:exon7:c.G663C:p.R221S;ENSG00000141644:ENST00000398495:exon6:c.G663C:p.R221S;ENSG00000141644:ENST00000587605:exon7:c.G663C:p.R221S;	0.995371872665656	0.828
18	47802205	C	T	18	50275835	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon7:c.G663A:p.R221R;MBD1:NM_001204151:exon6:c.G663A:p.R221R;MBD1:NM_001204137:exon7:c.G663A:p.R221R;MBD1:NM_015845:exon7:c.G663A:p.R221R;MBD1:NM_001204142:exon7:c.G663A:p.R221R;MBD1:NM_001204143:exon7:c.G663A:p.R221R;MBD1:NM_001204138:exon7:c.G663A:p.R221R;MBD1:NM_015846:exon7:c.G663A:p.R221R;MBD1:NM_001204140:exon7:c.G663A:p.R221R;MBD1:NM_001204139:exon7:c.G663A:p.R221R;MBD1:NM_015844:exon7:c.G663A:p.R221R;MBD1:NM_001204136:exon7:c.G663A:p.R221R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000424334:exon7:c.G741A:p.R247R;ENSG00000141644:ENST00000591535:exon6:c.G663A:p.R221R;ENSG00000141644:ENST00000398493:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000398488:exon6:c.G663A:p.R221R;ENSG00000141644:ENST00000339998:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000591416:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000269471:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000457839:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000590208:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000347968:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000382948:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000588937:exon6:c.G663A:p.R221R;ENSG00000141644:ENST00000349085:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000436910:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000269468:exon7:c.G663A:p.R221R;ENSG00000141644:ENST00000398495:exon6:c.G663A:p.R221R;ENSG00000141644:ENST00000587605:exon7:c.G663A:p.R221R;	0.936536311826468	0.69
18	47802206	C	A	18	50275836	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.G662T:p.R221M;MBD1:NM_001204151:exon6:c.G662T:p.R221M;MBD1:NM_001204137:exon7:c.G662T:p.R221M;MBD1:NM_015845:exon7:c.G662T:p.R221M;MBD1:NM_001204142:exon7:c.G662T:p.R221M;MBD1:NM_001204143:exon7:c.G662T:p.R221M;MBD1:NM_001204138:exon7:c.G662T:p.R221M;MBD1:NM_015846:exon7:c.G662T:p.R221M;MBD1:NM_001204140:exon7:c.G662T:p.R221M;MBD1:NM_001204139:exon7:c.G662T:p.R221M;MBD1:NM_015844:exon7:c.G662T:p.R221M;MBD1:NM_001204136:exon7:c.G662T:p.R221M;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000424334:exon7:c.G740T:p.R247M;ENSG00000141644:ENST00000591535:exon6:c.G662T:p.R221M;ENSG00000141644:ENST00000398493:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000398488:exon6:c.G662T:p.R221M;ENSG00000141644:ENST00000339998:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000591416:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000269471:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000457839:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000590208:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000347968:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000382948:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000588937:exon6:c.G662T:p.R221M;ENSG00000141644:ENST00000349085:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000436910:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000269468:exon7:c.G662T:p.R221M;ENSG00000141644:ENST00000398495:exon6:c.G662T:p.R221M;ENSG00000141644:ENST00000587605:exon7:c.G662T:p.R221M;	4.4275476834472E-5	0.128
18	47802206	C	G	18	50275836	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.G662C:p.R221T;MBD1:NM_001204151:exon6:c.G662C:p.R221T;MBD1:NM_001204137:exon7:c.G662C:p.R221T;MBD1:NM_015845:exon7:c.G662C:p.R221T;MBD1:NM_001204142:exon7:c.G662C:p.R221T;MBD1:NM_001204143:exon7:c.G662C:p.R221T;MBD1:NM_001204138:exon7:c.G662C:p.R221T;MBD1:NM_015846:exon7:c.G662C:p.R221T;MBD1:NM_001204140:exon7:c.G662C:p.R221T;MBD1:NM_001204139:exon7:c.G662C:p.R221T;MBD1:NM_015844:exon7:c.G662C:p.R221T;MBD1:NM_001204136:exon7:c.G662C:p.R221T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000424334:exon7:c.G740C:p.R247T;ENSG00000141644:ENST00000591535:exon6:c.G662C:p.R221T;ENSG00000141644:ENST00000398493:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000398488:exon6:c.G662C:p.R221T;ENSG00000141644:ENST00000339998:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000591416:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000269471:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000457839:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000590208:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000347968:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000382948:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000588937:exon6:c.G662C:p.R221T;ENSG00000141644:ENST00000349085:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000436910:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000269468:exon7:c.G662C:p.R221T;ENSG00000141644:ENST00000398495:exon6:c.G662C:p.R221T;ENSG00000141644:ENST00000587605:exon7:c.G662C:p.R221T;	1.97221445538672E-4	0.006
18	47802206	C	T	18	50275836	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.G662A:p.R221K;MBD1:NM_001204151:exon6:c.G662A:p.R221K;MBD1:NM_001204137:exon7:c.G662A:p.R221K;MBD1:NM_015845:exon7:c.G662A:p.R221K;MBD1:NM_001204142:exon7:c.G662A:p.R221K;MBD1:NM_001204143:exon7:c.G662A:p.R221K;MBD1:NM_001204138:exon7:c.G662A:p.R221K;MBD1:NM_015846:exon7:c.G662A:p.R221K;MBD1:NM_001204140:exon7:c.G662A:p.R221K;MBD1:NM_001204139:exon7:c.G662A:p.R221K;MBD1:NM_015844:exon7:c.G662A:p.R221K;MBD1:NM_001204136:exon7:c.G662A:p.R221K;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000424334:exon7:c.G740A:p.R247K;ENSG00000141644:ENST00000591535:exon6:c.G662A:p.R221K;ENSG00000141644:ENST00000398493:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000398488:exon6:c.G662A:p.R221K;ENSG00000141644:ENST00000339998:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000591416:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000269471:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000457839:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000590208:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000347968:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000382948:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000588937:exon6:c.G662A:p.R221K;ENSG00000141644:ENST00000349085:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000436910:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000269468:exon7:c.G662A:p.R221K;ENSG00000141644:ENST00000398495:exon6:c.G662A:p.R221K;ENSG00000141644:ENST00000587605:exon7:c.G662A:p.R221K;	2.85936007205661E-4	0.064
18	47802207	T	A	18	50275837	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.A661T:p.R221W;MBD1:NM_001204151:exon6:c.A661T:p.R221W;MBD1:NM_001204137:exon7:c.A661T:p.R221W;MBD1:NM_015845:exon7:c.A661T:p.R221W;MBD1:NM_001204142:exon7:c.A661T:p.R221W;MBD1:NM_001204143:exon7:c.A661T:p.R221W;MBD1:NM_001204138:exon7:c.A661T:p.R221W;MBD1:NM_015846:exon7:c.A661T:p.R221W;MBD1:NM_001204140:exon7:c.A661T:p.R221W;MBD1:NM_001204139:exon7:c.A661T:p.R221W;MBD1:NM_015844:exon7:c.A661T:p.R221W;MBD1:NM_001204136:exon7:c.A661T:p.R221W;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000424334:exon7:c.A739T:p.R247W;ENSG00000141644:ENST00000591535:exon6:c.A661T:p.R221W;ENSG00000141644:ENST00000398493:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000398488:exon6:c.A661T:p.R221W;ENSG00000141644:ENST00000339998:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000591416:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000269471:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000457839:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000590208:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000347968:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000382948:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000588937:exon6:c.A661T:p.R221W;ENSG00000141644:ENST00000349085:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000436910:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000269468:exon7:c.A661T:p.R221W;ENSG00000141644:ENST00000398495:exon6:c.A661T:p.R221W;ENSG00000141644:ENST00000587605:exon7:c.A661T:p.R221W;	0.86852943904169	0.552
18	47802207	T	C	18	50275837	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.A661G:p.R221G;MBD1:NM_001204151:exon6:c.A661G:p.R221G;MBD1:NM_001204137:exon7:c.A661G:p.R221G;MBD1:NM_015845:exon7:c.A661G:p.R221G;MBD1:NM_001204142:exon7:c.A661G:p.R221G;MBD1:NM_001204143:exon7:c.A661G:p.R221G;MBD1:NM_001204138:exon7:c.A661G:p.R221G;MBD1:NM_015846:exon7:c.A661G:p.R221G;MBD1:NM_001204140:exon7:c.A661G:p.R221G;MBD1:NM_001204139:exon7:c.A661G:p.R221G;MBD1:NM_015844:exon7:c.A661G:p.R221G;MBD1:NM_001204136:exon7:c.A661G:p.R221G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000424334:exon7:c.A739G:p.R247G;ENSG00000141644:ENST00000591535:exon6:c.A661G:p.R221G;ENSG00000141644:ENST00000398493:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000398488:exon6:c.A661G:p.R221G;ENSG00000141644:ENST00000339998:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000591416:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000269471:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000457839:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000590208:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000347968:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000382948:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000588937:exon6:c.A661G:p.R221G;ENSG00000141644:ENST00000349085:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000436910:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000269468:exon7:c.A661G:p.R221G;ENSG00000141644:ENST00000398495:exon6:c.A661G:p.R221G;ENSG00000141644:ENST00000587605:exon7:c.A661G:p.R221G;	0.271976643077313	0.42
18	47802207	T	G	18	50275837	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon7:c.A661C:p.R221R;MBD1:NM_001204151:exon6:c.A661C:p.R221R;MBD1:NM_001204137:exon7:c.A661C:p.R221R;MBD1:NM_015845:exon7:c.A661C:p.R221R;MBD1:NM_001204142:exon7:c.A661C:p.R221R;MBD1:NM_001204143:exon7:c.A661C:p.R221R;MBD1:NM_001204138:exon7:c.A661C:p.R221R;MBD1:NM_015846:exon7:c.A661C:p.R221R;MBD1:NM_001204140:exon7:c.A661C:p.R221R;MBD1:NM_001204139:exon7:c.A661C:p.R221R;MBD1:NM_015844:exon7:c.A661C:p.R221R;MBD1:NM_001204136:exon7:c.A661C:p.R221R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000424334:exon7:c.A739C:p.R247R;ENSG00000141644:ENST00000591535:exon6:c.A661C:p.R221R;ENSG00000141644:ENST00000398493:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000398488:exon6:c.A661C:p.R221R;ENSG00000141644:ENST00000339998:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000591416:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000269471:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000457839:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000590208:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000347968:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000382948:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000588937:exon6:c.A661C:p.R221R;ENSG00000141644:ENST00000349085:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000436910:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000269468:exon7:c.A661C:p.R221R;ENSG00000141644:ENST00000398495:exon6:c.A661C:p.R221R;ENSG00000141644:ENST00000587605:exon7:c.A661C:p.R221R;	0.00477462790009483	0.056
18	47802350	C	A	18	50275980	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.G518T:p.R173L;MBD1:NM_001204151:exon6:c.G518T:p.R173L;MBD1:NM_001204137:exon7:c.G518T:p.R173L;MBD1:NM_015845:exon7:c.G518T:p.R173L;MBD1:NM_001204142:exon7:c.G518T:p.R173L;MBD1:NM_001204143:exon7:c.G518T:p.R173L;MBD1:NM_001204138:exon7:c.G518T:p.R173L;MBD1:NM_015846:exon7:c.G518T:p.R173L;MBD1:NM_001204140:exon7:c.G518T:p.R173L;MBD1:NM_001204139:exon7:c.G518T:p.R173L;MBD1:NM_015844:exon7:c.G518T:p.R173L;MBD1:NM_001204136:exon7:c.G518T:p.R173L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000424334:exon7:c.G596T:p.R199L;ENSG00000141644:ENST00000591535:exon6:c.G518T:p.R173L;ENSG00000141644:ENST00000398493:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000398488:exon6:c.G518T:p.R173L;ENSG00000141644:ENST00000339998:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000591416:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000269471:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000457839:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000590208:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000347968:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000382948:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000588937:exon6:c.G518T:p.R173L;ENSG00000141644:ENST00000349085:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000436910:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000269468:exon7:c.G518T:p.R173L;ENSG00000141644:ENST00000398495:exon6:c.G518T:p.R173L;ENSG00000141644:ENST00000587605:exon7:c.G518T:p.R173L;	0.982775620168894	0.804
18	47802350	C	G	18	50275980	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.G518C:p.R173P;MBD1:NM_001204151:exon6:c.G518C:p.R173P;MBD1:NM_001204137:exon7:c.G518C:p.R173P;MBD1:NM_015845:exon7:c.G518C:p.R173P;MBD1:NM_001204142:exon7:c.G518C:p.R173P;MBD1:NM_001204143:exon7:c.G518C:p.R173P;MBD1:NM_001204138:exon7:c.G518C:p.R173P;MBD1:NM_015846:exon7:c.G518C:p.R173P;MBD1:NM_001204140:exon7:c.G518C:p.R173P;MBD1:NM_001204139:exon7:c.G518C:p.R173P;MBD1:NM_015844:exon7:c.G518C:p.R173P;MBD1:NM_001204136:exon7:c.G518C:p.R173P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000424334:exon7:c.G596C:p.R199P;ENSG00000141644:ENST00000591535:exon6:c.G518C:p.R173P;ENSG00000141644:ENST00000398493:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000398488:exon6:c.G518C:p.R173P;ENSG00000141644:ENST00000339998:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000591416:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000269471:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000457839:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000590208:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000347968:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000382948:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000588937:exon6:c.G518C:p.R173P;ENSG00000141644:ENST00000349085:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000436910:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000269468:exon7:c.G518C:p.R173P;ENSG00000141644:ENST00000398495:exon6:c.G518C:p.R173P;ENSG00000141644:ENST00000587605:exon7:c.G518C:p.R173P;	0.968654485270837	0.68
18	47802350	C	T	18	50275980	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.G518A:p.R173H;MBD1:NM_001204151:exon6:c.G518A:p.R173H;MBD1:NM_001204137:exon7:c.G518A:p.R173H;MBD1:NM_015845:exon7:c.G518A:p.R173H;MBD1:NM_001204142:exon7:c.G518A:p.R173H;MBD1:NM_001204143:exon7:c.G518A:p.R173H;MBD1:NM_001204138:exon7:c.G518A:p.R173H;MBD1:NM_015846:exon7:c.G518A:p.R173H;MBD1:NM_001204140:exon7:c.G518A:p.R173H;MBD1:NM_001204139:exon7:c.G518A:p.R173H;MBD1:NM_015844:exon7:c.G518A:p.R173H;MBD1:NM_001204136:exon7:c.G518A:p.R173H;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000424334:exon7:c.G596A:p.R199H;ENSG00000141644:ENST00000591535:exon6:c.G518A:p.R173H;ENSG00000141644:ENST00000398493:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000398488:exon6:c.G518A:p.R173H;ENSG00000141644:ENST00000339998:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000591416:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000269471:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000457839:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000590208:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000347968:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000382948:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000588937:exon6:c.G518A:p.R173H;ENSG00000141644:ENST00000349085:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000436910:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000269468:exon7:c.G518A:p.R173H;ENSG00000141644:ENST00000398495:exon6:c.G518A:p.R173H;ENSG00000141644:ENST00000587605:exon7:c.G518A:p.R173H;	0.983513902665661	0.69
18	47802351	G	A	18	50275981	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.C517T:p.R173C;MBD1:NM_001204151:exon6:c.C517T:p.R173C;MBD1:NM_001204137:exon7:c.C517T:p.R173C;MBD1:NM_015845:exon7:c.C517T:p.R173C;MBD1:NM_001204142:exon7:c.C517T:p.R173C;MBD1:NM_001204143:exon7:c.C517T:p.R173C;MBD1:NM_001204138:exon7:c.C517T:p.R173C;MBD1:NM_015846:exon7:c.C517T:p.R173C;MBD1:NM_001204140:exon7:c.C517T:p.R173C;MBD1:NM_001204139:exon7:c.C517T:p.R173C;MBD1:NM_015844:exon7:c.C517T:p.R173C;MBD1:NM_001204136:exon7:c.C517T:p.R173C;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000424334:exon7:c.C595T:p.R199C;ENSG00000141644:ENST00000591535:exon6:c.C517T:p.R173C;ENSG00000141644:ENST00000398493:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000398488:exon6:c.C517T:p.R173C;ENSG00000141644:ENST00000339998:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000591416:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000269471:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000457839:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000590208:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000347968:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000382948:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000588937:exon6:c.C517T:p.R173C;ENSG00000141644:ENST00000349085:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000436910:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000269468:exon7:c.C517T:p.R173C;ENSG00000141644:ENST00000398495:exon6:c.C517T:p.R173C;ENSG00000141644:ENST00000587605:exon7:c.C517T:p.R173C;	0.995443756193782	0.876
18	47802351	G	C	18	50275981	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.C517G:p.R173G;MBD1:NM_001204151:exon6:c.C517G:p.R173G;MBD1:NM_001204137:exon7:c.C517G:p.R173G;MBD1:NM_015845:exon7:c.C517G:p.R173G;MBD1:NM_001204142:exon7:c.C517G:p.R173G;MBD1:NM_001204143:exon7:c.C517G:p.R173G;MBD1:NM_001204138:exon7:c.C517G:p.R173G;MBD1:NM_015846:exon7:c.C517G:p.R173G;MBD1:NM_001204140:exon7:c.C517G:p.R173G;MBD1:NM_001204139:exon7:c.C517G:p.R173G;MBD1:NM_015844:exon7:c.C517G:p.R173G;MBD1:NM_001204136:exon7:c.C517G:p.R173G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000424334:exon7:c.C595G:p.R199G;ENSG00000141644:ENST00000591535:exon6:c.C517G:p.R173G;ENSG00000141644:ENST00000398493:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000398488:exon6:c.C517G:p.R173G;ENSG00000141644:ENST00000339998:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000591416:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000269471:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000457839:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000590208:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000347968:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000382948:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000588937:exon6:c.C517G:p.R173G;ENSG00000141644:ENST00000349085:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000436910:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000269468:exon7:c.C517G:p.R173G;ENSG00000141644:ENST00000398495:exon6:c.C517G:p.R173G;ENSG00000141644:ENST00000587605:exon7:c.C517G:p.R173G;	0.947400687377973	0.516
18	47802351	G	T	18	50275981	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon7:c.C517A:p.R173S;MBD1:NM_001204151:exon6:c.C517A:p.R173S;MBD1:NM_001204137:exon7:c.C517A:p.R173S;MBD1:NM_015845:exon7:c.C517A:p.R173S;MBD1:NM_001204142:exon7:c.C517A:p.R173S;MBD1:NM_001204143:exon7:c.C517A:p.R173S;MBD1:NM_001204138:exon7:c.C517A:p.R173S;MBD1:NM_015846:exon7:c.C517A:p.R173S;MBD1:NM_001204140:exon7:c.C517A:p.R173S;MBD1:NM_001204139:exon7:c.C517A:p.R173S;MBD1:NM_015844:exon7:c.C517A:p.R173S;MBD1:NM_001204136:exon7:c.C517A:p.R173S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000424334:exon7:c.C595A:p.R199S;ENSG00000141644:ENST00000591535:exon6:c.C517A:p.R173S;ENSG00000141644:ENST00000398493:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000398488:exon6:c.C517A:p.R173S;ENSG00000141644:ENST00000339998:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000591416:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000269471:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000457839:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000590208:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000347968:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000382948:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000588937:exon6:c.C517A:p.R173S;ENSG00000141644:ENST00000349085:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000436910:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000269468:exon7:c.C517A:p.R173S;ENSG00000141644:ENST00000398495:exon6:c.C517A:p.R173S;ENSG00000141644:ENST00000587605:exon7:c.C517A:p.R173S;	0.927493223610246	0.674
18	47802352	C	A	18	50275982	y	y	splicing	MBD1(NM_001204139:exon8:c.517-1G>T;NM_002384:exon8:c.517-1G>T;NM_015846:exon8:c.517-1G>T;NM_015845:exon8:c.517-1G>T;NM_001204136:exon8:c.517-1G>T;NM_015844:exon8:c.517-1G>T;NM_001204143:exon8:c.517-1G>T;NM_001204142:exon8:c.517-1G>T;NM_001204140:exon8:c.517-1G>T;NM_001204138:exon8:c.517-1G>T;NM_001204137:exon8:c.517-1G>T;NM_001204151:exon7:c.517-1G>T)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.517-1G>T;ENST00000591416:exon8:c.517-1G>T;ENST00000349085:exon8:c.517-1G>T;ENST00000436910:exon8:c.517-1G>T;ENST00000347968:exon8:c.517-1G>T;ENST00000269468:exon8:c.517-1G>T;ENST00000269471:exon8:c.517-1G>T;ENST00000339998:exon8:c.517-1G>T;ENST00000590208:exon8:c.517-1G>T;ENST00000587605:exon8:c.517-1G>T;ENST00000588937:exon7:c.517-1G>T;ENST00000424334:exon8:c.595-1G>T;ENST00000585595:exon8:c.517-1G>T;ENST00000398495:exon7:c.517-1G>T;ENST00000457839:exon8:c.517-1G>T;ENST00000398493:exon8:c.517-1G>T;ENST00000591535:exon7:c.517-1G>T;ENST00000398488:exon7:c.517-1G>T;ENST00000589733:exon4:c.119-1G>T)	.	.	0.999981760802075	0.954
18	47802352	C	G	18	50275982	y	y	splicing	MBD1(NM_001204139:exon8:c.517-1G>C;NM_002384:exon8:c.517-1G>C;NM_015846:exon8:c.517-1G>C;NM_015845:exon8:c.517-1G>C;NM_001204136:exon8:c.517-1G>C;NM_015844:exon8:c.517-1G>C;NM_001204143:exon8:c.517-1G>C;NM_001204142:exon8:c.517-1G>C;NM_001204140:exon8:c.517-1G>C;NM_001204138:exon8:c.517-1G>C;NM_001204137:exon8:c.517-1G>C;NM_001204151:exon7:c.517-1G>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.517-1G>C;ENST00000591416:exon8:c.517-1G>C;ENST00000349085:exon8:c.517-1G>C;ENST00000436910:exon8:c.517-1G>C;ENST00000347968:exon8:c.517-1G>C;ENST00000269468:exon8:c.517-1G>C;ENST00000269471:exon8:c.517-1G>C;ENST00000339998:exon8:c.517-1G>C;ENST00000590208:exon8:c.517-1G>C;ENST00000587605:exon8:c.517-1G>C;ENST00000588937:exon7:c.517-1G>C;ENST00000424334:exon8:c.595-1G>C;ENST00000585595:exon8:c.517-1G>C;ENST00000398495:exon7:c.517-1G>C;ENST00000457839:exon8:c.517-1G>C;ENST00000398493:exon8:c.517-1G>C;ENST00000591535:exon7:c.517-1G>C;ENST00000398488:exon7:c.517-1G>C;ENST00000589733:exon4:c.119-1G>C)	.	.	0.999981760802075	0.954
18	47802352	C	T	18	50275982	y	y	splicing	MBD1(NM_001204139:exon8:c.517-1G>A;NM_002384:exon8:c.517-1G>A;NM_015846:exon8:c.517-1G>A;NM_015845:exon8:c.517-1G>A;NM_001204136:exon8:c.517-1G>A;NM_015844:exon8:c.517-1G>A;NM_001204143:exon8:c.517-1G>A;NM_001204142:exon8:c.517-1G>A;NM_001204140:exon8:c.517-1G>A;NM_001204138:exon8:c.517-1G>A;NM_001204137:exon8:c.517-1G>A;NM_001204151:exon7:c.517-1G>A)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.517-1G>A;ENST00000591416:exon8:c.517-1G>A;ENST00000349085:exon8:c.517-1G>A;ENST00000436910:exon8:c.517-1G>A;ENST00000347968:exon8:c.517-1G>A;ENST00000269468:exon8:c.517-1G>A;ENST00000269471:exon8:c.517-1G>A;ENST00000339998:exon8:c.517-1G>A;ENST00000590208:exon8:c.517-1G>A;ENST00000587605:exon8:c.517-1G>A;ENST00000588937:exon7:c.517-1G>A;ENST00000424334:exon8:c.595-1G>A;ENST00000585595:exon8:c.517-1G>A;ENST00000398495:exon7:c.517-1G>A;ENST00000457839:exon8:c.517-1G>A;ENST00000398493:exon8:c.517-1G>A;ENST00000591535:exon7:c.517-1G>A;ENST00000398488:exon7:c.517-1G>A;ENST00000589733:exon4:c.119-1G>A)	.	.	0.999981760802075	0.954
18	47802353	T	A	18	50275983	y	y	splicing	MBD1(NM_001204139:exon8:c.517-2A>T;NM_002384:exon8:c.517-2A>T;NM_015846:exon8:c.517-2A>T;NM_015845:exon8:c.517-2A>T;NM_001204136:exon8:c.517-2A>T;NM_015844:exon8:c.517-2A>T;NM_001204143:exon8:c.517-2A>T;NM_001204142:exon8:c.517-2A>T;NM_001204140:exon8:c.517-2A>T;NM_001204138:exon8:c.517-2A>T;NM_001204137:exon8:c.517-2A>T;NM_001204151:exon7:c.517-2A>T)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.517-2A>T;ENST00000591416:exon8:c.517-2A>T;ENST00000349085:exon8:c.517-2A>T;ENST00000436910:exon8:c.517-2A>T;ENST00000347968:exon8:c.517-2A>T;ENST00000269468:exon8:c.517-2A>T;ENST00000269471:exon8:c.517-2A>T;ENST00000339998:exon8:c.517-2A>T;ENST00000590208:exon8:c.517-2A>T;ENST00000587605:exon8:c.517-2A>T;ENST00000588937:exon7:c.517-2A>T;ENST00000424334:exon8:c.595-2A>T;ENST00000585595:exon8:c.517-2A>T;ENST00000398495:exon7:c.517-2A>T;ENST00000457839:exon8:c.517-2A>T;ENST00000398493:exon8:c.517-2A>T;ENST00000591535:exon7:c.517-2A>T;ENST00000398488:exon7:c.517-2A>T;ENST00000589733:exon4:c.119-2A>T)	.	.	0.999989917668626	0.948
18	47802353	T	C	18	50275983	y	y	splicing	MBD1(NM_001204139:exon8:c.517-2A>G;NM_002384:exon8:c.517-2A>G;NM_015846:exon8:c.517-2A>G;NM_015845:exon8:c.517-2A>G;NM_001204136:exon8:c.517-2A>G;NM_015844:exon8:c.517-2A>G;NM_001204143:exon8:c.517-2A>G;NM_001204142:exon8:c.517-2A>G;NM_001204140:exon8:c.517-2A>G;NM_001204138:exon8:c.517-2A>G;NM_001204137:exon8:c.517-2A>G;NM_001204151:exon7:c.517-2A>G)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.517-2A>G;ENST00000591416:exon8:c.517-2A>G;ENST00000349085:exon8:c.517-2A>G;ENST00000436910:exon8:c.517-2A>G;ENST00000347968:exon8:c.517-2A>G;ENST00000269468:exon8:c.517-2A>G;ENST00000269471:exon8:c.517-2A>G;ENST00000339998:exon8:c.517-2A>G;ENST00000590208:exon8:c.517-2A>G;ENST00000587605:exon8:c.517-2A>G;ENST00000588937:exon7:c.517-2A>G;ENST00000424334:exon8:c.595-2A>G;ENST00000585595:exon8:c.517-2A>G;ENST00000398495:exon7:c.517-2A>G;ENST00000457839:exon8:c.517-2A>G;ENST00000398493:exon8:c.517-2A>G;ENST00000591535:exon7:c.517-2A>G;ENST00000398488:exon7:c.517-2A>G;ENST00000589733:exon4:c.119-2A>G)	.	.	0.999989917668626	0.948
18	47802353	T	G	18	50275983	y	y	splicing	MBD1(NM_001204139:exon8:c.517-2A>C;NM_002384:exon8:c.517-2A>C;NM_015846:exon8:c.517-2A>C;NM_015845:exon8:c.517-2A>C;NM_001204136:exon8:c.517-2A>C;NM_015844:exon8:c.517-2A>C;NM_001204143:exon8:c.517-2A>C;NM_001204142:exon8:c.517-2A>C;NM_001204140:exon8:c.517-2A>C;NM_001204138:exon8:c.517-2A>C;NM_001204137:exon8:c.517-2A>C;NM_001204151:exon7:c.517-2A>C)	.	.	splicing	ENSG00000141644(ENST00000382948:exon8:c.517-2A>C;ENST00000591416:exon8:c.517-2A>C;ENST00000349085:exon8:c.517-2A>C;ENST00000436910:exon8:c.517-2A>C;ENST00000347968:exon8:c.517-2A>C;ENST00000269468:exon8:c.517-2A>C;ENST00000269471:exon8:c.517-2A>C;ENST00000339998:exon8:c.517-2A>C;ENST00000590208:exon8:c.517-2A>C;ENST00000587605:exon8:c.517-2A>C;ENST00000588937:exon7:c.517-2A>C;ENST00000424334:exon8:c.595-2A>C;ENST00000585595:exon8:c.517-2A>C;ENST00000398495:exon7:c.517-2A>C;ENST00000457839:exon8:c.517-2A>C;ENST00000398493:exon8:c.517-2A>C;ENST00000591535:exon7:c.517-2A>C;ENST00000398488:exon7:c.517-2A>C;ENST00000589733:exon4:c.119-2A>C)	.	.	0.999989917668626	0.948
18	47802354	G	A	18	50275984	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0396488164282391	0.3
18	47802354	G	C	18	50275984	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999631815672004	0.74
18	47802354	G	T	18	50275984	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.981425767143489	0.912
18	47802355	C	A	18	50275985	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.67955123524076E-4	0.056
18	47802355	C	G	18	50275985	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.11635755366662E-4	0.04
18	47802355	C	T	18	50275985	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.75266304007237E-4	0.01
18	47802356	C	A	18	50275986	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.07720744666729E-4	0.03
18	47802356	C	G	18	50275986	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.27121079861967E-4	0.008
18	47802356	C	T	18	50275986	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.93232910436069	0.732
18	47802357	A	C	18	50275987	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0104882254296371	0.474
18	47802357	A	G	18	50275987	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.58263149872976E-5	0.002
18	47802357	A	T	18	50275987	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999927970543261	0.988
18	47802358	G	A	18	50275988	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.27014147119296E-5	0.034
18	47802358	G	C	18	50275988	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0159261717932686	0.212
18	47802358	G	T	18	50275988	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00178792616135532	0.122
18	47802359	G	A	18	50275989	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.72501661911307E-5	0.004
18	47802359	G	C	18	50275989	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00262807920231544	0.098
18	47802359	G	T	18	50275989	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.55297417332536E-4	0.114
18	47802360	A	C	18	50275990	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0544204637396624	0.378
18	47802360	A	G	18	50275990	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00135347553158101	0.054
18	47802360	A	T	18	50275990	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.193530281053117	0.466
18	47802361	A	C	18	50275991	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999465192933979	0.976
18	47802361	A	G	18	50275991	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.70645217316954E-4	0.062
18	47802361	A	T	18	50275991	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0663643246870229	0.45
18	47802362	T	A	18	50275992	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.09520345629177E-4	0.08
18	47802362	T	C	18	50275992	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.92184314142667E-5	0.002
18	47802362	T	G	18	50275992	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.35020097372625E-5	0.0
18	47802363	G	A	18	50275993	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.83571250017088E-5	0.0
18	47802363	G	C	18	50275993	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0119068773955382	0.044
18	47802363	G	T	18	50275993	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0035178510027424	0.038
18	47802740	G	A	18	50276370	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.08802802279601E-5	0.004
18	47802740	G	C	18	50276370	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.32129412785724E-5	0.002
18	47802740	G	T	18	50276370	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.58374763810847E-5	0.002
18	47802741	T	A	18	50276371	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.455930068921E-5	0.0
18	47802741	T	C	18	50276371	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.455930068921E-5	0.0
18	47802741	T	G	18	50276371	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.455930068921E-5	0.0
18	47802742	G	A	18	50276372	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.41924977984982E-5	0.008
18	47802742	G	C	18	50276372	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.4249522143102E-4	0.032
18	47802742	G	T	18	50276372	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.62037554690579E-5	0.006
18	47802743	C	A	18	50276373	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.963386564397222	0.622
18	47802743	C	G	18	50276373	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.420302004977457	0.59
18	47802743	C	T	18	50276373	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.676848882898194	0.558
18	47802744	T	A	18	50276374	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0176142362339834	0.242
18	47802744	T	C	18	50276374	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.011730395842063	0.226
18	47802744	T	G	18	50276374	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0176201651865383	0.28
18	47802745	T	A	18	50276375	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.793455207781569	0.614
18	47802745	T	C	18	50276375	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0118581013488903	0.15
18	47802745	T	G	18	50276375	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.776438600600043	0.544
18	47802746	A	C	18	50276376	y	y	splicing	MBD1(NM_001204139:exon7:c.516+2T>G;NM_001204141:exon7:c.516+2T>G;NM_002384:exon7:c.516+2T>G;NM_015847:exon7:c.516+2T>G;NM_015846:exon7:c.516+2T>G;NM_015845:exon7:c.516+2T>G;NM_001204136:exon7:c.516+2T>G;NM_015844:exon7:c.516+2T>G;NM_001204143:exon7:c.516+2T>G;NM_001204142:exon7:c.516+2T>G;NM_001204140:exon7:c.516+2T>G;NM_001204138:exon7:c.516+2T>G;NM_001204137:exon7:c.516+2T>G;NM_001204151:exon6:c.516+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.516+2T>G;ENST00000592060:exon4:c.290+2T>G;ENST00000382948:exon7:c.516+2T>G;ENST00000353909:exon7:c.516+2T>G;ENST00000591416:exon7:c.516+2T>G;ENST00000349085:exon7:c.516+2T>G;ENST00000436910:exon7:c.516+2T>G;ENST00000347968:exon7:c.516+2T>G;ENST00000269468:exon7:c.516+2T>G;ENST00000269471:exon7:c.516+2T>G;ENST00000339998:exon7:c.516+2T>G;ENST00000590208:exon7:c.516+2T>G;ENST00000587605:exon7:c.516+2T>G;ENST00000588937:exon6:c.516+2T>G;ENST00000424334:exon7:c.594+2T>G;ENST00000585595:exon7:c.516+2T>G;ENST00000398495:exon6:c.516+2T>G;ENST00000457839:exon7:c.516+2T>G;ENST00000398493:exon7:c.516+2T>G;ENST00000591535:exon6:c.516+2T>G;ENST00000398488:exon6:c.516+2T>G;ENST00000589733:exon3:c.118+2T>G)	.	.	0.999988247793601	0.926
18	47802746	A	G	18	50276376	y	y	splicing	MBD1(NM_001204139:exon7:c.516+2T>C;NM_001204141:exon7:c.516+2T>C;NM_002384:exon7:c.516+2T>C;NM_015847:exon7:c.516+2T>C;NM_015846:exon7:c.516+2T>C;NM_015845:exon7:c.516+2T>C;NM_001204136:exon7:c.516+2T>C;NM_015844:exon7:c.516+2T>C;NM_001204143:exon7:c.516+2T>C;NM_001204142:exon7:c.516+2T>C;NM_001204140:exon7:c.516+2T>C;NM_001204138:exon7:c.516+2T>C;NM_001204137:exon7:c.516+2T>C;NM_001204151:exon6:c.516+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.516+2T>C;ENST00000592060:exon4:c.290+2T>C;ENST00000382948:exon7:c.516+2T>C;ENST00000353909:exon7:c.516+2T>C;ENST00000591416:exon7:c.516+2T>C;ENST00000349085:exon7:c.516+2T>C;ENST00000436910:exon7:c.516+2T>C;ENST00000347968:exon7:c.516+2T>C;ENST00000269468:exon7:c.516+2T>C;ENST00000269471:exon7:c.516+2T>C;ENST00000339998:exon7:c.516+2T>C;ENST00000590208:exon7:c.516+2T>C;ENST00000587605:exon7:c.516+2T>C;ENST00000588937:exon6:c.516+2T>C;ENST00000424334:exon7:c.594+2T>C;ENST00000585595:exon7:c.516+2T>C;ENST00000398495:exon6:c.516+2T>C;ENST00000457839:exon7:c.516+2T>C;ENST00000398493:exon7:c.516+2T>C;ENST00000591535:exon6:c.516+2T>C;ENST00000398488:exon6:c.516+2T>C;ENST00000589733:exon3:c.118+2T>C)	.	.	0.98918007292081	0.644
18	47802746	A	T	18	50276376	y	y	splicing	MBD1(NM_001204139:exon7:c.516+2T>A;NM_001204141:exon7:c.516+2T>A;NM_002384:exon7:c.516+2T>A;NM_015847:exon7:c.516+2T>A;NM_015846:exon7:c.516+2T>A;NM_015845:exon7:c.516+2T>A;NM_001204136:exon7:c.516+2T>A;NM_015844:exon7:c.516+2T>A;NM_001204143:exon7:c.516+2T>A;NM_001204142:exon7:c.516+2T>A;NM_001204140:exon7:c.516+2T>A;NM_001204138:exon7:c.516+2T>A;NM_001204137:exon7:c.516+2T>A;NM_001204151:exon6:c.516+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.516+2T>A;ENST00000592060:exon4:c.290+2T>A;ENST00000382948:exon7:c.516+2T>A;ENST00000353909:exon7:c.516+2T>A;ENST00000591416:exon7:c.516+2T>A;ENST00000349085:exon7:c.516+2T>A;ENST00000436910:exon7:c.516+2T>A;ENST00000347968:exon7:c.516+2T>A;ENST00000269468:exon7:c.516+2T>A;ENST00000269471:exon7:c.516+2T>A;ENST00000339998:exon7:c.516+2T>A;ENST00000590208:exon7:c.516+2T>A;ENST00000587605:exon7:c.516+2T>A;ENST00000588937:exon6:c.516+2T>A;ENST00000424334:exon7:c.594+2T>A;ENST00000585595:exon7:c.516+2T>A;ENST00000398495:exon6:c.516+2T>A;ENST00000457839:exon7:c.516+2T>A;ENST00000398493:exon7:c.516+2T>A;ENST00000591535:exon6:c.516+2T>A;ENST00000398488:exon6:c.516+2T>A;ENST00000589733:exon3:c.118+2T>A)	.	.	0.999988247793601	0.928
18	47802747	C	A	18	50276377	y	y	splicing	MBD1(NM_001204139:exon7:c.516+1G>T;NM_001204141:exon7:c.516+1G>T;NM_002384:exon7:c.516+1G>T;NM_015847:exon7:c.516+1G>T;NM_015846:exon7:c.516+1G>T;NM_015845:exon7:c.516+1G>T;NM_001204136:exon7:c.516+1G>T;NM_015844:exon7:c.516+1G>T;NM_001204143:exon7:c.516+1G>T;NM_001204142:exon7:c.516+1G>T;NM_001204140:exon7:c.516+1G>T;NM_001204138:exon7:c.516+1G>T;NM_001204137:exon7:c.516+1G>T;NM_001204151:exon6:c.516+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.516+1G>T;ENST00000592060:exon4:c.290+1G>T;ENST00000382948:exon7:c.516+1G>T;ENST00000353909:exon7:c.516+1G>T;ENST00000591416:exon7:c.516+1G>T;ENST00000349085:exon7:c.516+1G>T;ENST00000436910:exon7:c.516+1G>T;ENST00000347968:exon7:c.516+1G>T;ENST00000269468:exon7:c.516+1G>T;ENST00000269471:exon7:c.516+1G>T;ENST00000339998:exon7:c.516+1G>T;ENST00000590208:exon7:c.516+1G>T;ENST00000587605:exon7:c.516+1G>T;ENST00000588937:exon6:c.516+1G>T;ENST00000424334:exon7:c.594+1G>T;ENST00000585595:exon7:c.516+1G>T;ENST00000398495:exon6:c.516+1G>T;ENST00000457839:exon7:c.516+1G>T;ENST00000398493:exon7:c.516+1G>T;ENST00000591535:exon6:c.516+1G>T;ENST00000398488:exon6:c.516+1G>T;ENST00000589733:exon3:c.118+1G>T)	.	.	0.999985532734767	0.934
18	47802747	C	G	18	50276377	y	y	splicing	MBD1(NM_001204139:exon7:c.516+1G>C;NM_001204141:exon7:c.516+1G>C;NM_002384:exon7:c.516+1G>C;NM_015847:exon7:c.516+1G>C;NM_015846:exon7:c.516+1G>C;NM_015845:exon7:c.516+1G>C;NM_001204136:exon7:c.516+1G>C;NM_015844:exon7:c.516+1G>C;NM_001204143:exon7:c.516+1G>C;NM_001204142:exon7:c.516+1G>C;NM_001204140:exon7:c.516+1G>C;NM_001204138:exon7:c.516+1G>C;NM_001204137:exon7:c.516+1G>C;NM_001204151:exon6:c.516+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.516+1G>C;ENST00000592060:exon4:c.290+1G>C;ENST00000382948:exon7:c.516+1G>C;ENST00000353909:exon7:c.516+1G>C;ENST00000591416:exon7:c.516+1G>C;ENST00000349085:exon7:c.516+1G>C;ENST00000436910:exon7:c.516+1G>C;ENST00000347968:exon7:c.516+1G>C;ENST00000269468:exon7:c.516+1G>C;ENST00000269471:exon7:c.516+1G>C;ENST00000339998:exon7:c.516+1G>C;ENST00000590208:exon7:c.516+1G>C;ENST00000587605:exon7:c.516+1G>C;ENST00000588937:exon6:c.516+1G>C;ENST00000424334:exon7:c.594+1G>C;ENST00000585595:exon7:c.516+1G>C;ENST00000398495:exon6:c.516+1G>C;ENST00000457839:exon7:c.516+1G>C;ENST00000398493:exon7:c.516+1G>C;ENST00000591535:exon6:c.516+1G>C;ENST00000398488:exon6:c.516+1G>C;ENST00000589733:exon3:c.118+1G>C)	.	.	0.999985532734767	0.934
18	47802747	C	T	18	50276377	y	y	splicing	MBD1(NM_001204139:exon7:c.516+1G>A;NM_001204141:exon7:c.516+1G>A;NM_002384:exon7:c.516+1G>A;NM_015847:exon7:c.516+1G>A;NM_015846:exon7:c.516+1G>A;NM_015845:exon7:c.516+1G>A;NM_001204136:exon7:c.516+1G>A;NM_015844:exon7:c.516+1G>A;NM_001204143:exon7:c.516+1G>A;NM_001204142:exon7:c.516+1G>A;NM_001204140:exon7:c.516+1G>A;NM_001204138:exon7:c.516+1G>A;NM_001204137:exon7:c.516+1G>A;NM_001204151:exon6:c.516+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.516+1G>A;ENST00000592060:exon4:c.290+1G>A;ENST00000382948:exon7:c.516+1G>A;ENST00000353909:exon7:c.516+1G>A;ENST00000591416:exon7:c.516+1G>A;ENST00000349085:exon7:c.516+1G>A;ENST00000436910:exon7:c.516+1G>A;ENST00000347968:exon7:c.516+1G>A;ENST00000269468:exon7:c.516+1G>A;ENST00000269471:exon7:c.516+1G>A;ENST00000339998:exon7:c.516+1G>A;ENST00000590208:exon7:c.516+1G>A;ENST00000587605:exon7:c.516+1G>A;ENST00000588937:exon6:c.516+1G>A;ENST00000424334:exon7:c.594+1G>A;ENST00000585595:exon7:c.516+1G>A;ENST00000398495:exon6:c.516+1G>A;ENST00000457839:exon7:c.516+1G>A;ENST00000398493:exon7:c.516+1G>A;ENST00000591535:exon6:c.516+1G>A;ENST00000398488:exon6:c.516+1G>A;ENST00000589733:exon3:c.118+1G>A)	.	.	0.999985532734767	0.936
18	47802748	C	A	18	50276378	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.G516T:p.K172N;MBD1:NM_001204151:exon5:c.G516T:p.K172N;MBD1:NM_001204137:exon6:c.G516T:p.K172N;MBD1:NM_015845:exon6:c.G516T:p.K172N;MBD1:NM_001204142:exon6:c.G516T:p.K172N;MBD1:NM_001204143:exon6:c.G516T:p.K172N;MBD1:NM_001204138:exon6:c.G516T:p.K172N;MBD1:NM_015846:exon6:c.G516T:p.K172N;MBD1:NM_001204140:exon6:c.G516T:p.K172N;MBD1:NM_001204139:exon6:c.G516T:p.K172N;MBD1:NM_015844:exon6:c.G516T:p.K172N;MBD1:NM_001204136:exon6:c.G516T:p.K172N;MBD1:NM_015847:exon6:c.G516T:p.K172N;MBD1:NM_001204141:exon6:c.G516T:p.K172N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000424334:exon6:c.G594T:p.K198N;ENSG00000141644:ENST00000591535:exon5:c.G516T:p.K172N;ENSG00000141644:ENST00000398493:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000398488:exon5:c.G516T:p.K172N;ENSG00000141644:ENST00000353909:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000339998:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000591416:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000269471:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000457839:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000590208:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000347968:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000382948:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000588937:exon5:c.G516T:p.K172N;ENSG00000141644:ENST00000349085:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000436910:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000269468:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000398495:exon5:c.G516T:p.K172N;ENSG00000141644:ENST00000585672:exon6:c.G516T:p.K172N;ENSG00000141644:ENST00000587605:exon6:c.G516T:p.K172N;	0.999044893596027	0.992
18	47802748	C	G	18	50276378	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.G516C:p.K172N;MBD1:NM_001204151:exon5:c.G516C:p.K172N;MBD1:NM_001204137:exon6:c.G516C:p.K172N;MBD1:NM_015845:exon6:c.G516C:p.K172N;MBD1:NM_001204142:exon6:c.G516C:p.K172N;MBD1:NM_001204143:exon6:c.G516C:p.K172N;MBD1:NM_001204138:exon6:c.G516C:p.K172N;MBD1:NM_015846:exon6:c.G516C:p.K172N;MBD1:NM_001204140:exon6:c.G516C:p.K172N;MBD1:NM_001204139:exon6:c.G516C:p.K172N;MBD1:NM_015844:exon6:c.G516C:p.K172N;MBD1:NM_001204136:exon6:c.G516C:p.K172N;MBD1:NM_015847:exon6:c.G516C:p.K172N;MBD1:NM_001204141:exon6:c.G516C:p.K172N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000424334:exon6:c.G594C:p.K198N;ENSG00000141644:ENST00000591535:exon5:c.G516C:p.K172N;ENSG00000141644:ENST00000398493:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000398488:exon5:c.G516C:p.K172N;ENSG00000141644:ENST00000353909:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000339998:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000591416:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000269471:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000457839:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000590208:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000347968:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000382948:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000588937:exon5:c.G516C:p.K172N;ENSG00000141644:ENST00000349085:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000436910:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000269468:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000398495:exon5:c.G516C:p.K172N;ENSG00000141644:ENST00000585672:exon6:c.G516C:p.K172N;ENSG00000141644:ENST00000587605:exon6:c.G516C:p.K172N;	0.998977543853484	0.87
18	47802748	C	T	18	50276378	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon6:c.G516A:p.K172K;MBD1:NM_001204151:exon5:c.G516A:p.K172K;MBD1:NM_001204137:exon6:c.G516A:p.K172K;MBD1:NM_015845:exon6:c.G516A:p.K172K;MBD1:NM_001204142:exon6:c.G516A:p.K172K;MBD1:NM_001204143:exon6:c.G516A:p.K172K;MBD1:NM_001204138:exon6:c.G516A:p.K172K;MBD1:NM_015846:exon6:c.G516A:p.K172K;MBD1:NM_001204140:exon6:c.G516A:p.K172K;MBD1:NM_001204139:exon6:c.G516A:p.K172K;MBD1:NM_015844:exon6:c.G516A:p.K172K;MBD1:NM_001204136:exon6:c.G516A:p.K172K;MBD1:NM_015847:exon6:c.G516A:p.K172K;MBD1:NM_001204141:exon6:c.G516A:p.K172K;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000424334:exon6:c.G594A:p.K198K;ENSG00000141644:ENST00000591535:exon5:c.G516A:p.K172K;ENSG00000141644:ENST00000398493:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000398488:exon5:c.G516A:p.K172K;ENSG00000141644:ENST00000353909:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000339998:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000591416:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000269471:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000457839:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000590208:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000347968:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000382948:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000588937:exon5:c.G516A:p.K172K;ENSG00000141644:ENST00000349085:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000436910:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000269468:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000398495:exon5:c.G516A:p.K172K;ENSG00000141644:ENST00000585672:exon6:c.G516A:p.K172K;ENSG00000141644:ENST00000587605:exon6:c.G516A:p.K172K;	0.979981866460611	0.896
18	47802749	T	A	18	50276379	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.A515T:p.K172M;MBD1:NM_001204151:exon5:c.A515T:p.K172M;MBD1:NM_001204137:exon6:c.A515T:p.K172M;MBD1:NM_015845:exon6:c.A515T:p.K172M;MBD1:NM_001204142:exon6:c.A515T:p.K172M;MBD1:NM_001204143:exon6:c.A515T:p.K172M;MBD1:NM_001204138:exon6:c.A515T:p.K172M;MBD1:NM_015846:exon6:c.A515T:p.K172M;MBD1:NM_001204140:exon6:c.A515T:p.K172M;MBD1:NM_001204139:exon6:c.A515T:p.K172M;MBD1:NM_015844:exon6:c.A515T:p.K172M;MBD1:NM_001204136:exon6:c.A515T:p.K172M;MBD1:NM_015847:exon6:c.A515T:p.K172M;MBD1:NM_001204141:exon6:c.A515T:p.K172M;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000424334:exon6:c.A593T:p.K198M;ENSG00000141644:ENST00000591535:exon5:c.A515T:p.K172M;ENSG00000141644:ENST00000398493:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000398488:exon5:c.A515T:p.K172M;ENSG00000141644:ENST00000353909:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000339998:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000591416:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000269471:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000457839:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000590208:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000347968:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000382948:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000588937:exon5:c.A515T:p.K172M;ENSG00000141644:ENST00000349085:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000436910:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000269468:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000398495:exon5:c.A515T:p.K172M;ENSG00000141644:ENST00000585672:exon6:c.A515T:p.K172M;ENSG00000141644:ENST00000587605:exon6:c.A515T:p.K172M;	0.993464540532469	0.682
18	47802749	T	C	18	50276379	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.A515G:p.K172R;MBD1:NM_001204151:exon5:c.A515G:p.K172R;MBD1:NM_001204137:exon6:c.A515G:p.K172R;MBD1:NM_015845:exon6:c.A515G:p.K172R;MBD1:NM_001204142:exon6:c.A515G:p.K172R;MBD1:NM_001204143:exon6:c.A515G:p.K172R;MBD1:NM_001204138:exon6:c.A515G:p.K172R;MBD1:NM_015846:exon6:c.A515G:p.K172R;MBD1:NM_001204140:exon6:c.A515G:p.K172R;MBD1:NM_001204139:exon6:c.A515G:p.K172R;MBD1:NM_015844:exon6:c.A515G:p.K172R;MBD1:NM_001204136:exon6:c.A515G:p.K172R;MBD1:NM_015847:exon6:c.A515G:p.K172R;MBD1:NM_001204141:exon6:c.A515G:p.K172R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000424334:exon6:c.A593G:p.K198R;ENSG00000141644:ENST00000591535:exon5:c.A515G:p.K172R;ENSG00000141644:ENST00000398493:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000398488:exon5:c.A515G:p.K172R;ENSG00000141644:ENST00000353909:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000339998:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000591416:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000269471:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000457839:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000590208:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000347968:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000382948:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000588937:exon5:c.A515G:p.K172R;ENSG00000141644:ENST00000349085:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000436910:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000269468:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000398495:exon5:c.A515G:p.K172R;ENSG00000141644:ENST00000585672:exon6:c.A515G:p.K172R;ENSG00000141644:ENST00000587605:exon6:c.A515G:p.K172R;	0.993107911780007	0.922
18	47802749	T	G	18	50276379	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.A515C:p.K172T;MBD1:NM_001204151:exon5:c.A515C:p.K172T;MBD1:NM_001204137:exon6:c.A515C:p.K172T;MBD1:NM_015845:exon6:c.A515C:p.K172T;MBD1:NM_001204142:exon6:c.A515C:p.K172T;MBD1:NM_001204143:exon6:c.A515C:p.K172T;MBD1:NM_001204138:exon6:c.A515C:p.K172T;MBD1:NM_015846:exon6:c.A515C:p.K172T;MBD1:NM_001204140:exon6:c.A515C:p.K172T;MBD1:NM_001204139:exon6:c.A515C:p.K172T;MBD1:NM_015844:exon6:c.A515C:p.K172T;MBD1:NM_001204136:exon6:c.A515C:p.K172T;MBD1:NM_015847:exon6:c.A515C:p.K172T;MBD1:NM_001204141:exon6:c.A515C:p.K172T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000424334:exon6:c.A593C:p.K198T;ENSG00000141644:ENST00000591535:exon5:c.A515C:p.K172T;ENSG00000141644:ENST00000398493:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000398488:exon5:c.A515C:p.K172T;ENSG00000141644:ENST00000353909:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000339998:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000591416:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000269471:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000457839:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000590208:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000347968:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000382948:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000588937:exon5:c.A515C:p.K172T;ENSG00000141644:ENST00000349085:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000436910:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000269468:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000398495:exon5:c.A515C:p.K172T;ENSG00000141644:ENST00000585672:exon6:c.A515C:p.K172T;ENSG00000141644:ENST00000587605:exon6:c.A515C:p.K172T;	0.989282441333686	0.854
18	47802750	T	A	18	50276380	y	y	exonic	MBD1	stopgain SNV	MBD1:NM_002384:exon6:c.A514T:p.K172X;MBD1:NM_001204151:exon5:c.A514T:p.K172X;MBD1:NM_001204137:exon6:c.A514T:p.K172X;MBD1:NM_015845:exon6:c.A514T:p.K172X;MBD1:NM_001204142:exon6:c.A514T:p.K172X;MBD1:NM_001204143:exon6:c.A514T:p.K172X;MBD1:NM_001204138:exon6:c.A514T:p.K172X;MBD1:NM_015846:exon6:c.A514T:p.K172X;MBD1:NM_001204140:exon6:c.A514T:p.K172X;MBD1:NM_001204139:exon6:c.A514T:p.K172X;MBD1:NM_015844:exon6:c.A514T:p.K172X;MBD1:NM_001204136:exon6:c.A514T:p.K172X;MBD1:NM_015847:exon6:c.A514T:p.K172X;MBD1:NM_001204141:exon6:c.A514T:p.K172X;	exonic	ENSG00000141644	stopgain SNV	ENSG00000141644:ENST00000585595:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000424334:exon6:c.A592T:p.K198X;ENSG00000141644:ENST00000591535:exon5:c.A514T:p.K172X;ENSG00000141644:ENST00000398493:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000398488:exon5:c.A514T:p.K172X;ENSG00000141644:ENST00000353909:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000339998:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000591416:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000269471:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000457839:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000590208:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000347968:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000382948:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000588937:exon5:c.A514T:p.K172X;ENSG00000141644:ENST00000349085:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000436910:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000269468:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000398495:exon5:c.A514T:p.K172X;ENSG00000141644:ENST00000585672:exon6:c.A514T:p.K172X;ENSG00000141644:ENST00000587605:exon6:c.A514T:p.K172X;	0.94409036939744	0.614
18	47802750	T	C	18	50276380	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.A514G:p.K172E;MBD1:NM_001204151:exon5:c.A514G:p.K172E;MBD1:NM_001204137:exon6:c.A514G:p.K172E;MBD1:NM_015845:exon6:c.A514G:p.K172E;MBD1:NM_001204142:exon6:c.A514G:p.K172E;MBD1:NM_001204143:exon6:c.A514G:p.K172E;MBD1:NM_001204138:exon6:c.A514G:p.K172E;MBD1:NM_015846:exon6:c.A514G:p.K172E;MBD1:NM_001204140:exon6:c.A514G:p.K172E;MBD1:NM_001204139:exon6:c.A514G:p.K172E;MBD1:NM_015844:exon6:c.A514G:p.K172E;MBD1:NM_001204136:exon6:c.A514G:p.K172E;MBD1:NM_015847:exon6:c.A514G:p.K172E;MBD1:NM_001204141:exon6:c.A514G:p.K172E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000424334:exon6:c.A592G:p.K198E;ENSG00000141644:ENST00000591535:exon5:c.A514G:p.K172E;ENSG00000141644:ENST00000398493:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000398488:exon5:c.A514G:p.K172E;ENSG00000141644:ENST00000353909:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000339998:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000591416:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000269471:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000457839:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000590208:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000347968:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000382948:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000588937:exon5:c.A514G:p.K172E;ENSG00000141644:ENST00000349085:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000436910:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000269468:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000398495:exon5:c.A514G:p.K172E;ENSG00000141644:ENST00000585672:exon6:c.A514G:p.K172E;ENSG00000141644:ENST00000587605:exon6:c.A514G:p.K172E;	0.293958570761856	0.462
18	47802750	T	G	18	50276380	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.A514C:p.K172Q;MBD1:NM_001204151:exon5:c.A514C:p.K172Q;MBD1:NM_001204137:exon6:c.A514C:p.K172Q;MBD1:NM_015845:exon6:c.A514C:p.K172Q;MBD1:NM_001204142:exon6:c.A514C:p.K172Q;MBD1:NM_001204143:exon6:c.A514C:p.K172Q;MBD1:NM_001204138:exon6:c.A514C:p.K172Q;MBD1:NM_015846:exon6:c.A514C:p.K172Q;MBD1:NM_001204140:exon6:c.A514C:p.K172Q;MBD1:NM_001204139:exon6:c.A514C:p.K172Q;MBD1:NM_015844:exon6:c.A514C:p.K172Q;MBD1:NM_001204136:exon6:c.A514C:p.K172Q;MBD1:NM_015847:exon6:c.A514C:p.K172Q;MBD1:NM_001204141:exon6:c.A514C:p.K172Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000424334:exon6:c.A592C:p.K198Q;ENSG00000141644:ENST00000591535:exon5:c.A514C:p.K172Q;ENSG00000141644:ENST00000398493:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000398488:exon5:c.A514C:p.K172Q;ENSG00000141644:ENST00000353909:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000339998:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000591416:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000269471:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000457839:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000590208:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000347968:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000382948:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000588937:exon5:c.A514C:p.K172Q;ENSG00000141644:ENST00000349085:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000436910:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000269468:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000398495:exon5:c.A514C:p.K172Q;ENSG00000141644:ENST00000585672:exon6:c.A514C:p.K172Q;ENSG00000141644:ENST00000587605:exon6:c.A514C:p.K172Q;	0.28413149658864	0.616
18	47802787	T	A	18	50276417	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon6:c.A477T:p.A159A;MBD1:NM_001204151:exon5:c.A477T:p.A159A;MBD1:NM_001204137:exon6:c.A477T:p.A159A;MBD1:NM_015845:exon6:c.A477T:p.A159A;MBD1:NM_001204142:exon6:c.A477T:p.A159A;MBD1:NM_001204143:exon6:c.A477T:p.A159A;MBD1:NM_001204138:exon6:c.A477T:p.A159A;MBD1:NM_015846:exon6:c.A477T:p.A159A;MBD1:NM_001204140:exon6:c.A477T:p.A159A;MBD1:NM_001204139:exon6:c.A477T:p.A159A;MBD1:NM_015844:exon6:c.A477T:p.A159A;MBD1:NM_001204136:exon6:c.A477T:p.A159A;MBD1:NM_015847:exon6:c.A477T:p.A159A;MBD1:NM_001204141:exon6:c.A477T:p.A159A;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000424334:exon6:c.A555T:p.A185A;ENSG00000141644:ENST00000591535:exon5:c.A477T:p.A159A;ENSG00000141644:ENST00000398493:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000398488:exon5:c.A477T:p.A159A;ENSG00000141644:ENST00000353909:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000339998:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000591416:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000269471:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000457839:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000590208:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000347968:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000382948:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000588937:exon5:c.A477T:p.A159A;ENSG00000141644:ENST00000349085:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000436910:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000269468:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000398495:exon5:c.A477T:p.A159A;ENSG00000141644:ENST00000585672:exon6:c.A477T:p.A159A;ENSG00000141644:ENST00000587605:exon6:c.A477T:p.A159A;	3.27527440242966E-5	0.002
18	47802787	T	C	18	50276417	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon6:c.A477G:p.A159A;MBD1:NM_001204151:exon5:c.A477G:p.A159A;MBD1:NM_001204137:exon6:c.A477G:p.A159A;MBD1:NM_015845:exon6:c.A477G:p.A159A;MBD1:NM_001204142:exon6:c.A477G:p.A159A;MBD1:NM_001204143:exon6:c.A477G:p.A159A;MBD1:NM_001204138:exon6:c.A477G:p.A159A;MBD1:NM_015846:exon6:c.A477G:p.A159A;MBD1:NM_001204140:exon6:c.A477G:p.A159A;MBD1:NM_001204139:exon6:c.A477G:p.A159A;MBD1:NM_015844:exon6:c.A477G:p.A159A;MBD1:NM_001204136:exon6:c.A477G:p.A159A;MBD1:NM_015847:exon6:c.A477G:p.A159A;MBD1:NM_001204141:exon6:c.A477G:p.A159A;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000424334:exon6:c.A555G:p.A185A;ENSG00000141644:ENST00000591535:exon5:c.A477G:p.A159A;ENSG00000141644:ENST00000398493:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000398488:exon5:c.A477G:p.A159A;ENSG00000141644:ENST00000353909:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000339998:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000591416:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000269471:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000457839:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000590208:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000347968:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000382948:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000588937:exon5:c.A477G:p.A159A;ENSG00000141644:ENST00000349085:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000436910:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000269468:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000398495:exon5:c.A477G:p.A159A;ENSG00000141644:ENST00000585672:exon6:c.A477G:p.A159A;ENSG00000141644:ENST00000587605:exon6:c.A477G:p.A159A;	1.31956035231008E-4	0.016
18	47802787	T	G	18	50276417	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon6:c.A477C:p.A159A;MBD1:NM_001204151:exon5:c.A477C:p.A159A;MBD1:NM_001204137:exon6:c.A477C:p.A159A;MBD1:NM_015845:exon6:c.A477C:p.A159A;MBD1:NM_001204142:exon6:c.A477C:p.A159A;MBD1:NM_001204143:exon6:c.A477C:p.A159A;MBD1:NM_001204138:exon6:c.A477C:p.A159A;MBD1:NM_015846:exon6:c.A477C:p.A159A;MBD1:NM_001204140:exon6:c.A477C:p.A159A;MBD1:NM_001204139:exon6:c.A477C:p.A159A;MBD1:NM_015844:exon6:c.A477C:p.A159A;MBD1:NM_001204136:exon6:c.A477C:p.A159A;MBD1:NM_015847:exon6:c.A477C:p.A159A;MBD1:NM_001204141:exon6:c.A477C:p.A159A;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000424334:exon6:c.A555C:p.A185A;ENSG00000141644:ENST00000591535:exon5:c.A477C:p.A159A;ENSG00000141644:ENST00000398493:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000398488:exon5:c.A477C:p.A159A;ENSG00000141644:ENST00000353909:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000339998:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000591416:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000269471:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000457839:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000590208:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000347968:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000382948:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000588937:exon5:c.A477C:p.A159A;ENSG00000141644:ENST00000349085:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000436910:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000269468:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000398495:exon5:c.A477C:p.A159A;ENSG00000141644:ENST00000585672:exon6:c.A477C:p.A159A;ENSG00000141644:ENST00000587605:exon6:c.A477C:p.A159A;	9.53799495237199E-5	0.004
18	47802788	G	A	18	50276418	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.C476T:p.A159V;MBD1:NM_001204151:exon5:c.C476T:p.A159V;MBD1:NM_001204137:exon6:c.C476T:p.A159V;MBD1:NM_015845:exon6:c.C476T:p.A159V;MBD1:NM_001204142:exon6:c.C476T:p.A159V;MBD1:NM_001204143:exon6:c.C476T:p.A159V;MBD1:NM_001204138:exon6:c.C476T:p.A159V;MBD1:NM_015846:exon6:c.C476T:p.A159V;MBD1:NM_001204140:exon6:c.C476T:p.A159V;MBD1:NM_001204139:exon6:c.C476T:p.A159V;MBD1:NM_015844:exon6:c.C476T:p.A159V;MBD1:NM_001204136:exon6:c.C476T:p.A159V;MBD1:NM_015847:exon6:c.C476T:p.A159V;MBD1:NM_001204141:exon6:c.C476T:p.A159V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000424334:exon6:c.C554T:p.A185V;ENSG00000141644:ENST00000591535:exon5:c.C476T:p.A159V;ENSG00000141644:ENST00000398493:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000398488:exon5:c.C476T:p.A159V;ENSG00000141644:ENST00000353909:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000339998:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000591416:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000269471:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000457839:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000590208:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000347968:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000382948:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000588937:exon5:c.C476T:p.A159V;ENSG00000141644:ENST00000349085:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000436910:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000269468:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000398495:exon5:c.C476T:p.A159V;ENSG00000141644:ENST00000585672:exon6:c.C476T:p.A159V;ENSG00000141644:ENST00000587605:exon6:c.C476T:p.A159V;	0.842483269542282	0.614
18	47802788	G	C	18	50276418	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.C476G:p.A159G;MBD1:NM_001204151:exon5:c.C476G:p.A159G;MBD1:NM_001204137:exon6:c.C476G:p.A159G;MBD1:NM_015845:exon6:c.C476G:p.A159G;MBD1:NM_001204142:exon6:c.C476G:p.A159G;MBD1:NM_001204143:exon6:c.C476G:p.A159G;MBD1:NM_001204138:exon6:c.C476G:p.A159G;MBD1:NM_015846:exon6:c.C476G:p.A159G;MBD1:NM_001204140:exon6:c.C476G:p.A159G;MBD1:NM_001204139:exon6:c.C476G:p.A159G;MBD1:NM_015844:exon6:c.C476G:p.A159G;MBD1:NM_001204136:exon6:c.C476G:p.A159G;MBD1:NM_015847:exon6:c.C476G:p.A159G;MBD1:NM_001204141:exon6:c.C476G:p.A159G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000424334:exon6:c.C554G:p.A185G;ENSG00000141644:ENST00000591535:exon5:c.C476G:p.A159G;ENSG00000141644:ENST00000398493:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000398488:exon5:c.C476G:p.A159G;ENSG00000141644:ENST00000353909:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000339998:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000591416:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000269471:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000457839:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000590208:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000347968:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000382948:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000588937:exon5:c.C476G:p.A159G;ENSG00000141644:ENST00000349085:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000436910:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000269468:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000398495:exon5:c.C476G:p.A159G;ENSG00000141644:ENST00000585672:exon6:c.C476G:p.A159G;ENSG00000141644:ENST00000587605:exon6:c.C476G:p.A159G;	0.406340576426561	0.528
18	47802788	G	T	18	50276418	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon6:c.C476A:p.A159E;MBD1:NM_001204151:exon5:c.C476A:p.A159E;MBD1:NM_001204137:exon6:c.C476A:p.A159E;MBD1:NM_015845:exon6:c.C476A:p.A159E;MBD1:NM_001204142:exon6:c.C476A:p.A159E;MBD1:NM_001204143:exon6:c.C476A:p.A159E;MBD1:NM_001204138:exon6:c.C476A:p.A159E;MBD1:NM_015846:exon6:c.C476A:p.A159E;MBD1:NM_001204140:exon6:c.C476A:p.A159E;MBD1:NM_001204139:exon6:c.C476A:p.A159E;MBD1:NM_015844:exon6:c.C476A:p.A159E;MBD1:NM_001204136:exon6:c.C476A:p.A159E;MBD1:NM_015847:exon6:c.C476A:p.A159E;MBD1:NM_001204141:exon6:c.C476A:p.A159E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000424334:exon6:c.C554A:p.A185E;ENSG00000141644:ENST00000591535:exon5:c.C476A:p.A159E;ENSG00000141644:ENST00000398493:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000398488:exon5:c.C476A:p.A159E;ENSG00000141644:ENST00000353909:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000339998:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000591416:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000269471:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000457839:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000590208:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000347968:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000382948:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000588937:exon5:c.C476A:p.A159E;ENSG00000141644:ENST00000349085:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000436910:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000269468:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000398495:exon5:c.C476A:p.A159E;ENSG00000141644:ENST00000585672:exon6:c.C476A:p.A159E;ENSG00000141644:ENST00000587605:exon6:c.C476A:p.A159E;	0.276192252384529	0.578
18	47802789	C	A	18	50276419	y	y	splicing	MBD1(NM_001204139:exon7:c.476-1G>T;NM_001204141:exon7:c.476-1G>T;NM_002384:exon7:c.476-1G>T;NM_015847:exon7:c.476-1G>T;NM_015846:exon7:c.476-1G>T;NM_015845:exon7:c.476-1G>T;NM_001204136:exon7:c.476-1G>T;NM_015844:exon7:c.476-1G>T;NM_001204143:exon7:c.476-1G>T;NM_001204142:exon7:c.476-1G>T;NM_001204140:exon7:c.476-1G>T;NM_001204138:exon7:c.476-1G>T;NM_001204137:exon7:c.476-1G>T;NM_001204151:exon6:c.476-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.476-1G>T;ENST00000592060:exon4:c.250-1G>T;ENST00000382948:exon7:c.476-1G>T;ENST00000353909:exon7:c.476-1G>T;ENST00000591416:exon7:c.476-1G>T;ENST00000349085:exon7:c.476-1G>T;ENST00000436910:exon7:c.476-1G>T;ENST00000347968:exon7:c.476-1G>T;ENST00000269468:exon7:c.476-1G>T;ENST00000269471:exon7:c.476-1G>T;ENST00000339998:exon7:c.476-1G>T;ENST00000590208:exon7:c.476-1G>T;ENST00000587605:exon7:c.476-1G>T;ENST00000588937:exon6:c.476-1G>T;ENST00000424334:exon7:c.554-1G>T;ENST00000585595:exon7:c.476-1G>T;ENST00000398495:exon6:c.476-1G>T;ENST00000457839:exon7:c.476-1G>T;ENST00000398493:exon7:c.476-1G>T;ENST00000591535:exon6:c.476-1G>T;ENST00000398488:exon6:c.476-1G>T;ENST00000589733:exon3:c.78-1G>T)	.	.	0.999985532734767	0.934
18	47802789	C	G	18	50276419	y	y	splicing	MBD1(NM_001204139:exon7:c.476-1G>C;NM_001204141:exon7:c.476-1G>C;NM_002384:exon7:c.476-1G>C;NM_015847:exon7:c.476-1G>C;NM_015846:exon7:c.476-1G>C;NM_015845:exon7:c.476-1G>C;NM_001204136:exon7:c.476-1G>C;NM_015844:exon7:c.476-1G>C;NM_001204143:exon7:c.476-1G>C;NM_001204142:exon7:c.476-1G>C;NM_001204140:exon7:c.476-1G>C;NM_001204138:exon7:c.476-1G>C;NM_001204137:exon7:c.476-1G>C;NM_001204151:exon6:c.476-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.476-1G>C;ENST00000592060:exon4:c.250-1G>C;ENST00000382948:exon7:c.476-1G>C;ENST00000353909:exon7:c.476-1G>C;ENST00000591416:exon7:c.476-1G>C;ENST00000349085:exon7:c.476-1G>C;ENST00000436910:exon7:c.476-1G>C;ENST00000347968:exon7:c.476-1G>C;ENST00000269468:exon7:c.476-1G>C;ENST00000269471:exon7:c.476-1G>C;ENST00000339998:exon7:c.476-1G>C;ENST00000590208:exon7:c.476-1G>C;ENST00000587605:exon7:c.476-1G>C;ENST00000588937:exon6:c.476-1G>C;ENST00000424334:exon7:c.554-1G>C;ENST00000585595:exon7:c.476-1G>C;ENST00000398495:exon6:c.476-1G>C;ENST00000457839:exon7:c.476-1G>C;ENST00000398493:exon7:c.476-1G>C;ENST00000591535:exon6:c.476-1G>C;ENST00000398488:exon6:c.476-1G>C;ENST00000589733:exon3:c.78-1G>C)	.	.	0.999985532734767	0.934
18	47802789	C	T	18	50276419	y	y	splicing	MBD1(NM_001204139:exon7:c.476-1G>A;NM_001204141:exon7:c.476-1G>A;NM_002384:exon7:c.476-1G>A;NM_015847:exon7:c.476-1G>A;NM_015846:exon7:c.476-1G>A;NM_015845:exon7:c.476-1G>A;NM_001204136:exon7:c.476-1G>A;NM_015844:exon7:c.476-1G>A;NM_001204143:exon7:c.476-1G>A;NM_001204142:exon7:c.476-1G>A;NM_001204140:exon7:c.476-1G>A;NM_001204138:exon7:c.476-1G>A;NM_001204137:exon7:c.476-1G>A;NM_001204151:exon6:c.476-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.476-1G>A;ENST00000592060:exon4:c.250-1G>A;ENST00000382948:exon7:c.476-1G>A;ENST00000353909:exon7:c.476-1G>A;ENST00000591416:exon7:c.476-1G>A;ENST00000349085:exon7:c.476-1G>A;ENST00000436910:exon7:c.476-1G>A;ENST00000347968:exon7:c.476-1G>A;ENST00000269468:exon7:c.476-1G>A;ENST00000269471:exon7:c.476-1G>A;ENST00000339998:exon7:c.476-1G>A;ENST00000590208:exon7:c.476-1G>A;ENST00000587605:exon7:c.476-1G>A;ENST00000588937:exon6:c.476-1G>A;ENST00000424334:exon7:c.554-1G>A;ENST00000585595:exon7:c.476-1G>A;ENST00000398495:exon6:c.476-1G>A;ENST00000457839:exon7:c.476-1G>A;ENST00000398493:exon7:c.476-1G>A;ENST00000591535:exon6:c.476-1G>A;ENST00000398488:exon6:c.476-1G>A;ENST00000589733:exon3:c.78-1G>A)	.	.	0.999985532734767	0.934
18	47802790	T	A	18	50276420	y	y	splicing	MBD1(NM_001204139:exon7:c.476-2A>T;NM_001204141:exon7:c.476-2A>T;NM_002384:exon7:c.476-2A>T;NM_015847:exon7:c.476-2A>T;NM_015846:exon7:c.476-2A>T;NM_015845:exon7:c.476-2A>T;NM_001204136:exon7:c.476-2A>T;NM_015844:exon7:c.476-2A>T;NM_001204143:exon7:c.476-2A>T;NM_001204142:exon7:c.476-2A>T;NM_001204140:exon7:c.476-2A>T;NM_001204138:exon7:c.476-2A>T;NM_001204137:exon7:c.476-2A>T;NM_001204151:exon6:c.476-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.476-2A>T;ENST00000592060:exon4:c.250-2A>T;ENST00000382948:exon7:c.476-2A>T;ENST00000353909:exon7:c.476-2A>T;ENST00000591416:exon7:c.476-2A>T;ENST00000349085:exon7:c.476-2A>T;ENST00000436910:exon7:c.476-2A>T;ENST00000347968:exon7:c.476-2A>T;ENST00000269468:exon7:c.476-2A>T;ENST00000269471:exon7:c.476-2A>T;ENST00000339998:exon7:c.476-2A>T;ENST00000590208:exon7:c.476-2A>T;ENST00000587605:exon7:c.476-2A>T;ENST00000588937:exon6:c.476-2A>T;ENST00000424334:exon7:c.554-2A>T;ENST00000585595:exon7:c.476-2A>T;ENST00000398495:exon6:c.476-2A>T;ENST00000457839:exon7:c.476-2A>T;ENST00000398493:exon7:c.476-2A>T;ENST00000591535:exon6:c.476-2A>T;ENST00000398488:exon6:c.476-2A>T;ENST00000589733:exon3:c.78-2A>T)	.	.	0.999988247793601	0.926
18	47802790	T	C	18	50276420	y	y	splicing	MBD1(NM_001204139:exon7:c.476-2A>G;NM_001204141:exon7:c.476-2A>G;NM_002384:exon7:c.476-2A>G;NM_015847:exon7:c.476-2A>G;NM_015846:exon7:c.476-2A>G;NM_015845:exon7:c.476-2A>G;NM_001204136:exon7:c.476-2A>G;NM_015844:exon7:c.476-2A>G;NM_001204143:exon7:c.476-2A>G;NM_001204142:exon7:c.476-2A>G;NM_001204140:exon7:c.476-2A>G;NM_001204138:exon7:c.476-2A>G;NM_001204137:exon7:c.476-2A>G;NM_001204151:exon6:c.476-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.476-2A>G;ENST00000592060:exon4:c.250-2A>G;ENST00000382948:exon7:c.476-2A>G;ENST00000353909:exon7:c.476-2A>G;ENST00000591416:exon7:c.476-2A>G;ENST00000349085:exon7:c.476-2A>G;ENST00000436910:exon7:c.476-2A>G;ENST00000347968:exon7:c.476-2A>G;ENST00000269468:exon7:c.476-2A>G;ENST00000269471:exon7:c.476-2A>G;ENST00000339998:exon7:c.476-2A>G;ENST00000590208:exon7:c.476-2A>G;ENST00000587605:exon7:c.476-2A>G;ENST00000588937:exon6:c.476-2A>G;ENST00000424334:exon7:c.554-2A>G;ENST00000585595:exon7:c.476-2A>G;ENST00000398495:exon6:c.476-2A>G;ENST00000457839:exon7:c.476-2A>G;ENST00000398493:exon7:c.476-2A>G;ENST00000591535:exon6:c.476-2A>G;ENST00000398488:exon6:c.476-2A>G;ENST00000589733:exon3:c.78-2A>G)	.	.	0.999988247793601	0.926
18	47802790	T	G	18	50276420	y	y	splicing	MBD1(NM_001204139:exon7:c.476-2A>C;NM_001204141:exon7:c.476-2A>C;NM_002384:exon7:c.476-2A>C;NM_015847:exon7:c.476-2A>C;NM_015846:exon7:c.476-2A>C;NM_015845:exon7:c.476-2A>C;NM_001204136:exon7:c.476-2A>C;NM_015844:exon7:c.476-2A>C;NM_001204143:exon7:c.476-2A>C;NM_001204142:exon7:c.476-2A>C;NM_001204140:exon7:c.476-2A>C;NM_001204138:exon7:c.476-2A>C;NM_001204137:exon7:c.476-2A>C;NM_001204151:exon6:c.476-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon7:c.476-2A>C;ENST00000592060:exon4:c.250-2A>C;ENST00000382948:exon7:c.476-2A>C;ENST00000353909:exon7:c.476-2A>C;ENST00000591416:exon7:c.476-2A>C;ENST00000349085:exon7:c.476-2A>C;ENST00000436910:exon7:c.476-2A>C;ENST00000347968:exon7:c.476-2A>C;ENST00000269468:exon7:c.476-2A>C;ENST00000269471:exon7:c.476-2A>C;ENST00000339998:exon7:c.476-2A>C;ENST00000590208:exon7:c.476-2A>C;ENST00000587605:exon7:c.476-2A>C;ENST00000588937:exon6:c.476-2A>C;ENST00000424334:exon7:c.554-2A>C;ENST00000585595:exon7:c.476-2A>C;ENST00000398495:exon6:c.476-2A>C;ENST00000457839:exon7:c.476-2A>C;ENST00000398493:exon7:c.476-2A>C;ENST00000591535:exon6:c.476-2A>C;ENST00000398488:exon6:c.476-2A>C;ENST00000589733:exon3:c.78-2A>C)	.	.	0.999988247793601	0.926
18	47802791	G	A	18	50276421	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0789266923634466	0.156
18	47802791	G	C	18	50276421	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99978463107602	0.966
18	47802791	G	T	18	50276421	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.985424514337035	0.848
18	47802792	T	A	18	50276422	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.00645330085571E-5	0.032
18	47802792	T	C	18	50276422	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.17028476618998E-5	0.0
18	47802792	T	G	18	50276422	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.32936132951328E-5	0.012
18	47802793	G	A	18	50276423	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.77189309009479E-5	0.006
18	47802793	G	C	18	50276423	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.96164830035141E-4	0.03
18	47802793	G	T	18	50276423	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.71668333315154E-4	0.018
18	47802794	G	A	18	50276424	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.02652131481011E-5	0.0
18	47802794	G	C	18	50276424	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00164467944509148	0.082
18	47802794	G	T	18	50276424	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00154211098916269	0.08
18	47802795	G	A	18	50276425	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.41655469002275E-5	0.0
18	47802795	G	C	18	50276425	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00106429618564054	0.028
18	47802795	G	T	18	50276425	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00137093403286506	0.042
18	47802796	G	A	18	50276426	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.03281175401873E-5	0.0
18	47802796	G	C	18	50276426	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.4233735855962E-5	0.056
18	47802796	G	T	18	50276426	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.97349830537642E-5	0.032
18	47802797	A	C	18	50276427	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00319272930984936	0.12
18	47802797	A	G	18	50276427	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.85983717934605E-5	0.004
18	47802797	A	T	18	50276427	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00529458688274838	0.11
18	47802798	G	A	18	50276428	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.67863050505795E-5	0.0
18	47802798	G	C	18	50276428	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.12104085456217E-4	0.01
18	47802798	G	T	18	50276428	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.33925517142397E-4	0.01
18	47802799	G	A	18	50276429	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.29138483280343E-5	0.0
18	47802799	G	C	18	50276429	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.08264965502169E-4	0.002
18	47802799	G	T	18	50276429	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00112768091992038	0.014
18	47802800	A	C	18	50276430	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.11023874921404E-4	0.05
18	47802800	A	G	18	50276430	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.09253544655009E-5	0.0
18	47802800	A	T	18	50276430	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.03654876634601E-4	0.058
18	47803024	C	A	18	50276654	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.53929084429736E-6	0.01
18	47803024	C	G	18	50276654	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.53929084429736E-6	0.0
18	47803024	C	T	18	50276654	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.53929084429736E-6	0.0
18	47803025	C	A	18	50276655	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00165909915502848	0.028
18	47803025	C	G	18	50276655	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.33705042538573E-4	0.02
18	47803025	C	T	18	50276655	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.35913025651252E-4	0.032
18	47803026	A	C	18	50276656	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00446846716130182	0.2
18	47803026	A	G	18	50276656	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0113801799861907	0.266
18	47803026	A	T	18	50276656	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0815772658503393	0.348
18	47803027	C	A	18	50276657	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.996186825463903	0.66
18	47803027	C	G	18	50276657	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.996310946577964	0.702
18	47803027	C	T	18	50276657	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.995720956954647	0.706
18	47803028	T	A	18	50276658	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.948167477128338	0.484
18	47803028	T	C	18	50276658	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.808693673268366	0.492
18	47803028	T	G	18	50276658	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0969419173783504	0.294
18	47803029	C	A	18	50276659	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0823487433069582	0.438
18	47803029	C	G	18	50276659	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0953951377636782	0.444
18	47803029	C	T	18	50276659	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.6420049507597E-4	0.004
18	47803030	A	C	18	50276660	y	y	splicing	MBD1(NM_001204139:exon6:c.475+2T>G;NM_001204141:exon6:c.475+2T>G;NM_002384:exon6:c.475+2T>G;NM_015847:exon6:c.475+2T>G;NM_015846:exon6:c.475+2T>G;NM_015845:exon6:c.475+2T>G;NM_001204136:exon6:c.475+2T>G;NM_015844:exon6:c.475+2T>G;NM_001204143:exon6:c.475+2T>G;NM_001204142:exon6:c.475+2T>G;NM_001204140:exon6:c.475+2T>G;NM_001204138:exon6:c.475+2T>G;NM_001204137:exon6:c.475+2T>G;NM_001204151:exon5:c.475+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.475+2T>G;ENST00000592060:exon3:c.249+2T>G;ENST00000382948:exon6:c.475+2T>G;ENST00000353909:exon6:c.475+2T>G;ENST00000591416:exon6:c.475+2T>G;ENST00000349085:exon6:c.475+2T>G;ENST00000436910:exon6:c.475+2T>G;ENST00000347968:exon6:c.475+2T>G;ENST00000269468:exon6:c.475+2T>G;ENST00000269471:exon6:c.475+2T>G;ENST00000339998:exon6:c.475+2T>G;ENST00000590208:exon6:c.475+2T>G;ENST00000587605:exon6:c.475+2T>G;ENST00000588937:exon5:c.475+2T>G;ENST00000424334:exon6:c.553+2T>G;ENST00000585595:exon6:c.475+2T>G;ENST00000398495:exon5:c.475+2T>G;ENST00000457839:exon6:c.475+2T>G;ENST00000398493:exon6:c.475+2T>G;ENST00000591535:exon5:c.475+2T>G;ENST00000398488:exon5:c.475+2T>G;ENST00000589733:exon2:c.77+2T>G)	.	.	0.999988247793601	0.928
18	47803030	A	G	18	50276660	y	y	splicing	MBD1(NM_001204139:exon6:c.475+2T>C;NM_001204141:exon6:c.475+2T>C;NM_002384:exon6:c.475+2T>C;NM_015847:exon6:c.475+2T>C;NM_015846:exon6:c.475+2T>C;NM_015845:exon6:c.475+2T>C;NM_001204136:exon6:c.475+2T>C;NM_015844:exon6:c.475+2T>C;NM_001204143:exon6:c.475+2T>C;NM_001204142:exon6:c.475+2T>C;NM_001204140:exon6:c.475+2T>C;NM_001204138:exon6:c.475+2T>C;NM_001204137:exon6:c.475+2T>C;NM_001204151:exon5:c.475+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.475+2T>C;ENST00000592060:exon3:c.249+2T>C;ENST00000382948:exon6:c.475+2T>C;ENST00000353909:exon6:c.475+2T>C;ENST00000591416:exon6:c.475+2T>C;ENST00000349085:exon6:c.475+2T>C;ENST00000436910:exon6:c.475+2T>C;ENST00000347968:exon6:c.475+2T>C;ENST00000269468:exon6:c.475+2T>C;ENST00000269471:exon6:c.475+2T>C;ENST00000339998:exon6:c.475+2T>C;ENST00000590208:exon6:c.475+2T>C;ENST00000587605:exon6:c.475+2T>C;ENST00000588937:exon5:c.475+2T>C;ENST00000424334:exon6:c.553+2T>C;ENST00000585595:exon6:c.475+2T>C;ENST00000398495:exon5:c.475+2T>C;ENST00000457839:exon6:c.475+2T>C;ENST00000398493:exon6:c.475+2T>C;ENST00000591535:exon5:c.475+2T>C;ENST00000398488:exon5:c.475+2T>C;ENST00000589733:exon2:c.77+2T>C)	.	.	0.999929727175276	0.854
18	47803030	A	T	18	50276660	y	y	splicing	MBD1(NM_001204139:exon6:c.475+2T>A;NM_001204141:exon6:c.475+2T>A;NM_002384:exon6:c.475+2T>A;NM_015847:exon6:c.475+2T>A;NM_015846:exon6:c.475+2T>A;NM_015845:exon6:c.475+2T>A;NM_001204136:exon6:c.475+2T>A;NM_015844:exon6:c.475+2T>A;NM_001204143:exon6:c.475+2T>A;NM_001204142:exon6:c.475+2T>A;NM_001204140:exon6:c.475+2T>A;NM_001204138:exon6:c.475+2T>A;NM_001204137:exon6:c.475+2T>A;NM_001204151:exon5:c.475+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.475+2T>A;ENST00000592060:exon3:c.249+2T>A;ENST00000382948:exon6:c.475+2T>A;ENST00000353909:exon6:c.475+2T>A;ENST00000591416:exon6:c.475+2T>A;ENST00000349085:exon6:c.475+2T>A;ENST00000436910:exon6:c.475+2T>A;ENST00000347968:exon6:c.475+2T>A;ENST00000269468:exon6:c.475+2T>A;ENST00000269471:exon6:c.475+2T>A;ENST00000339998:exon6:c.475+2T>A;ENST00000590208:exon6:c.475+2T>A;ENST00000587605:exon6:c.475+2T>A;ENST00000588937:exon5:c.475+2T>A;ENST00000424334:exon6:c.553+2T>A;ENST00000585595:exon6:c.475+2T>A;ENST00000398495:exon5:c.475+2T>A;ENST00000457839:exon6:c.475+2T>A;ENST00000398493:exon6:c.475+2T>A;ENST00000591535:exon5:c.475+2T>A;ENST00000398488:exon5:c.475+2T>A;ENST00000589733:exon2:c.77+2T>A)	.	.	0.999988247793601	0.928
18	47803031	C	A	18	50276661	y	y	splicing	MBD1(NM_001204139:exon6:c.475+1G>T;NM_001204141:exon6:c.475+1G>T;NM_002384:exon6:c.475+1G>T;NM_015847:exon6:c.475+1G>T;NM_015846:exon6:c.475+1G>T;NM_015845:exon6:c.475+1G>T;NM_001204136:exon6:c.475+1G>T;NM_015844:exon6:c.475+1G>T;NM_001204143:exon6:c.475+1G>T;NM_001204142:exon6:c.475+1G>T;NM_001204140:exon6:c.475+1G>T;NM_001204138:exon6:c.475+1G>T;NM_001204137:exon6:c.475+1G>T;NM_001204151:exon5:c.475+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.475+1G>T;ENST00000592060:exon3:c.249+1G>T;ENST00000382948:exon6:c.475+1G>T;ENST00000353909:exon6:c.475+1G>T;ENST00000591416:exon6:c.475+1G>T;ENST00000349085:exon6:c.475+1G>T;ENST00000436910:exon6:c.475+1G>T;ENST00000347968:exon6:c.475+1G>T;ENST00000269468:exon6:c.475+1G>T;ENST00000269471:exon6:c.475+1G>T;ENST00000339998:exon6:c.475+1G>T;ENST00000590208:exon6:c.475+1G>T;ENST00000587605:exon6:c.475+1G>T;ENST00000588937:exon5:c.475+1G>T;ENST00000424334:exon6:c.553+1G>T;ENST00000585595:exon6:c.475+1G>T;ENST00000398495:exon5:c.475+1G>T;ENST00000457839:exon6:c.475+1G>T;ENST00000398493:exon6:c.475+1G>T;ENST00000591535:exon5:c.475+1G>T;ENST00000398488:exon5:c.475+1G>T;ENST00000589733:exon2:c.77+1G>T)	.	.	0.999985532734767	0.936
18	47803031	C	G	18	50276661	y	y	splicing	MBD1(NM_001204139:exon6:c.475+1G>C;NM_001204141:exon6:c.475+1G>C;NM_002384:exon6:c.475+1G>C;NM_015847:exon6:c.475+1G>C;NM_015846:exon6:c.475+1G>C;NM_015845:exon6:c.475+1G>C;NM_001204136:exon6:c.475+1G>C;NM_015844:exon6:c.475+1G>C;NM_001204143:exon6:c.475+1G>C;NM_001204142:exon6:c.475+1G>C;NM_001204140:exon6:c.475+1G>C;NM_001204138:exon6:c.475+1G>C;NM_001204137:exon6:c.475+1G>C;NM_001204151:exon5:c.475+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.475+1G>C;ENST00000592060:exon3:c.249+1G>C;ENST00000382948:exon6:c.475+1G>C;ENST00000353909:exon6:c.475+1G>C;ENST00000591416:exon6:c.475+1G>C;ENST00000349085:exon6:c.475+1G>C;ENST00000436910:exon6:c.475+1G>C;ENST00000347968:exon6:c.475+1G>C;ENST00000269468:exon6:c.475+1G>C;ENST00000269471:exon6:c.475+1G>C;ENST00000339998:exon6:c.475+1G>C;ENST00000590208:exon6:c.475+1G>C;ENST00000587605:exon6:c.475+1G>C;ENST00000588937:exon5:c.475+1G>C;ENST00000424334:exon6:c.553+1G>C;ENST00000585595:exon6:c.475+1G>C;ENST00000398495:exon5:c.475+1G>C;ENST00000457839:exon6:c.475+1G>C;ENST00000398493:exon6:c.475+1G>C;ENST00000591535:exon5:c.475+1G>C;ENST00000398488:exon5:c.475+1G>C;ENST00000589733:exon2:c.77+1G>C)	.	.	0.999985532734767	0.89
18	47803031	C	T	18	50276661	y	y	splicing	MBD1(NM_001204139:exon6:c.475+1G>A;NM_001204141:exon6:c.475+1G>A;NM_002384:exon6:c.475+1G>A;NM_015847:exon6:c.475+1G>A;NM_015846:exon6:c.475+1G>A;NM_015845:exon6:c.475+1G>A;NM_001204136:exon6:c.475+1G>A;NM_015844:exon6:c.475+1G>A;NM_001204143:exon6:c.475+1G>A;NM_001204142:exon6:c.475+1G>A;NM_001204140:exon6:c.475+1G>A;NM_001204138:exon6:c.475+1G>A;NM_001204137:exon6:c.475+1G>A;NM_001204151:exon5:c.475+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.475+1G>A;ENST00000592060:exon3:c.249+1G>A;ENST00000382948:exon6:c.475+1G>A;ENST00000353909:exon6:c.475+1G>A;ENST00000591416:exon6:c.475+1G>A;ENST00000349085:exon6:c.475+1G>A;ENST00000436910:exon6:c.475+1G>A;ENST00000347968:exon6:c.475+1G>A;ENST00000269468:exon6:c.475+1G>A;ENST00000269471:exon6:c.475+1G>A;ENST00000339998:exon6:c.475+1G>A;ENST00000590208:exon6:c.475+1G>A;ENST00000587605:exon6:c.475+1G>A;ENST00000588937:exon5:c.475+1G>A;ENST00000424334:exon6:c.553+1G>A;ENST00000585595:exon6:c.475+1G>A;ENST00000398495:exon5:c.475+1G>A;ENST00000457839:exon6:c.475+1G>A;ENST00000398493:exon6:c.475+1G>A;ENST00000591535:exon5:c.475+1G>A;ENST00000398488:exon5:c.475+1G>A;ENST00000589733:exon2:c.77+1G>A)	.	.	0.999985532734767	0.936
18	47803032	C	A	18	50276662	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.G475T:p.A159S;MBD1:NM_001204151:exon4:c.G475T:p.A159S;MBD1:NM_001204137:exon5:c.G475T:p.A159S;MBD1:NM_015845:exon5:c.G475T:p.A159S;MBD1:NM_001204142:exon5:c.G475T:p.A159S;MBD1:NM_001204143:exon5:c.G475T:p.A159S;MBD1:NM_001204138:exon5:c.G475T:p.A159S;MBD1:NM_015846:exon5:c.G475T:p.A159S;MBD1:NM_001204140:exon5:c.G475T:p.A159S;MBD1:NM_001204139:exon5:c.G475T:p.A159S;MBD1:NM_015844:exon5:c.G475T:p.A159S;MBD1:NM_001204136:exon5:c.G475T:p.A159S;MBD1:NM_015847:exon5:c.G475T:p.A159S;MBD1:NM_001204141:exon5:c.G475T:p.A159S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000424334:exon5:c.G553T:p.A185S;ENSG00000141644:ENST00000591535:exon4:c.G475T:p.A159S;ENSG00000141644:ENST00000398493:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000398488:exon4:c.G475T:p.A159S;ENSG00000141644:ENST00000353909:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000339998:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000591416:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000269471:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000457839:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000590208:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000347968:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000382948:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000588937:exon4:c.G475T:p.A159S;ENSG00000141644:ENST00000349085:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000436910:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000269468:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000398495:exon4:c.G475T:p.A159S;ENSG00000141644:ENST00000585672:exon5:c.G475T:p.A159S;ENSG00000141644:ENST00000587605:exon5:c.G475T:p.A159S;	0.999637010643513	0.954
18	47803032	C	G	18	50276662	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.G475C:p.A159P;MBD1:NM_001204151:exon4:c.G475C:p.A159P;MBD1:NM_001204137:exon5:c.G475C:p.A159P;MBD1:NM_015845:exon5:c.G475C:p.A159P;MBD1:NM_001204142:exon5:c.G475C:p.A159P;MBD1:NM_001204143:exon5:c.G475C:p.A159P;MBD1:NM_001204138:exon5:c.G475C:p.A159P;MBD1:NM_015846:exon5:c.G475C:p.A159P;MBD1:NM_001204140:exon5:c.G475C:p.A159P;MBD1:NM_001204139:exon5:c.G475C:p.A159P;MBD1:NM_015844:exon5:c.G475C:p.A159P;MBD1:NM_001204136:exon5:c.G475C:p.A159P;MBD1:NM_015847:exon5:c.G475C:p.A159P;MBD1:NM_001204141:exon5:c.G475C:p.A159P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000424334:exon5:c.G553C:p.A185P;ENSG00000141644:ENST00000591535:exon4:c.G475C:p.A159P;ENSG00000141644:ENST00000398493:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000398488:exon4:c.G475C:p.A159P;ENSG00000141644:ENST00000353909:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000339998:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000591416:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000269471:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000457839:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000590208:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000347968:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000382948:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000588937:exon4:c.G475C:p.A159P;ENSG00000141644:ENST00000349085:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000436910:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000269468:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000398495:exon4:c.G475C:p.A159P;ENSG00000141644:ENST00000585672:exon5:c.G475C:p.A159P;ENSG00000141644:ENST00000587605:exon5:c.G475C:p.A159P;	0.999788359809385	0.946
18	47803032	C	T	18	50276662	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.G475A:p.A159T;MBD1:NM_001204151:exon4:c.G475A:p.A159T;MBD1:NM_001204137:exon5:c.G475A:p.A159T;MBD1:NM_015845:exon5:c.G475A:p.A159T;MBD1:NM_001204142:exon5:c.G475A:p.A159T;MBD1:NM_001204143:exon5:c.G475A:p.A159T;MBD1:NM_001204138:exon5:c.G475A:p.A159T;MBD1:NM_015846:exon5:c.G475A:p.A159T;MBD1:NM_001204140:exon5:c.G475A:p.A159T;MBD1:NM_001204139:exon5:c.G475A:p.A159T;MBD1:NM_015844:exon5:c.G475A:p.A159T;MBD1:NM_001204136:exon5:c.G475A:p.A159T;MBD1:NM_015847:exon5:c.G475A:p.A159T;MBD1:NM_001204141:exon5:c.G475A:p.A159T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000424334:exon5:c.G553A:p.A185T;ENSG00000141644:ENST00000591535:exon4:c.G475A:p.A159T;ENSG00000141644:ENST00000398493:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000398488:exon4:c.G475A:p.A159T;ENSG00000141644:ENST00000353909:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000339998:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000591416:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000269471:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000457839:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000590208:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000347968:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000382948:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000588937:exon4:c.G475A:p.A159T;ENSG00000141644:ENST00000349085:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000436910:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000269468:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000398495:exon4:c.G475A:p.A159T;ENSG00000141644:ENST00000585672:exon5:c.G475A:p.A159T;ENSG00000141644:ENST00000587605:exon5:c.G475A:p.A159T;	0.999808653195283	0.936
18	47803033	T	A	18	50276663	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon5:c.A474T:p.R158R;MBD1:NM_001204151:exon4:c.A474T:p.R158R;MBD1:NM_001204137:exon5:c.A474T:p.R158R;MBD1:NM_015845:exon5:c.A474T:p.R158R;MBD1:NM_001204142:exon5:c.A474T:p.R158R;MBD1:NM_001204143:exon5:c.A474T:p.R158R;MBD1:NM_001204138:exon5:c.A474T:p.R158R;MBD1:NM_015846:exon5:c.A474T:p.R158R;MBD1:NM_001204140:exon5:c.A474T:p.R158R;MBD1:NM_001204139:exon5:c.A474T:p.R158R;MBD1:NM_015844:exon5:c.A474T:p.R158R;MBD1:NM_001204136:exon5:c.A474T:p.R158R;MBD1:NM_015847:exon5:c.A474T:p.R158R;MBD1:NM_001204141:exon5:c.A474T:p.R158R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000424334:exon5:c.A552T:p.R184R;ENSG00000141644:ENST00000591535:exon4:c.A474T:p.R158R;ENSG00000141644:ENST00000398493:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000398488:exon4:c.A474T:p.R158R;ENSG00000141644:ENST00000353909:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000339998:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000591416:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000269471:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000457839:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000590208:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000347968:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000382948:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000588937:exon4:c.A474T:p.R158R;ENSG00000141644:ENST00000349085:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000436910:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000269468:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000398495:exon4:c.A474T:p.R158R;ENSG00000141644:ENST00000585672:exon5:c.A474T:p.R158R;ENSG00000141644:ENST00000587605:exon5:c.A474T:p.R158R;	0.697863792385645	0.578
18	47803033	T	C	18	50276663	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon5:c.A474G:p.R158R;MBD1:NM_001204151:exon4:c.A474G:p.R158R;MBD1:NM_001204137:exon5:c.A474G:p.R158R;MBD1:NM_015845:exon5:c.A474G:p.R158R;MBD1:NM_001204142:exon5:c.A474G:p.R158R;MBD1:NM_001204143:exon5:c.A474G:p.R158R;MBD1:NM_001204138:exon5:c.A474G:p.R158R;MBD1:NM_015846:exon5:c.A474G:p.R158R;MBD1:NM_001204140:exon5:c.A474G:p.R158R;MBD1:NM_001204139:exon5:c.A474G:p.R158R;MBD1:NM_015844:exon5:c.A474G:p.R158R;MBD1:NM_001204136:exon5:c.A474G:p.R158R;MBD1:NM_015847:exon5:c.A474G:p.R158R;MBD1:NM_001204141:exon5:c.A474G:p.R158R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000424334:exon5:c.A552G:p.R184R;ENSG00000141644:ENST00000591535:exon4:c.A474G:p.R158R;ENSG00000141644:ENST00000398493:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000398488:exon4:c.A474G:p.R158R;ENSG00000141644:ENST00000353909:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000339998:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000591416:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000269471:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000457839:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000590208:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000347968:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000382948:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000588937:exon4:c.A474G:p.R158R;ENSG00000141644:ENST00000349085:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000436910:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000269468:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000398495:exon4:c.A474G:p.R158R;ENSG00000141644:ENST00000585672:exon5:c.A474G:p.R158R;ENSG00000141644:ENST00000587605:exon5:c.A474G:p.R158R;	0.568374812275422	0.434
18	47803033	T	G	18	50276663	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon5:c.A474C:p.R158R;MBD1:NM_001204151:exon4:c.A474C:p.R158R;MBD1:NM_001204137:exon5:c.A474C:p.R158R;MBD1:NM_015845:exon5:c.A474C:p.R158R;MBD1:NM_001204142:exon5:c.A474C:p.R158R;MBD1:NM_001204143:exon5:c.A474C:p.R158R;MBD1:NM_001204138:exon5:c.A474C:p.R158R;MBD1:NM_015846:exon5:c.A474C:p.R158R;MBD1:NM_001204140:exon5:c.A474C:p.R158R;MBD1:NM_001204139:exon5:c.A474C:p.R158R;MBD1:NM_015844:exon5:c.A474C:p.R158R;MBD1:NM_001204136:exon5:c.A474C:p.R158R;MBD1:NM_015847:exon5:c.A474C:p.R158R;MBD1:NM_001204141:exon5:c.A474C:p.R158R;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000424334:exon5:c.A552C:p.R184R;ENSG00000141644:ENST00000591535:exon4:c.A474C:p.R158R;ENSG00000141644:ENST00000398493:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000398488:exon4:c.A474C:p.R158R;ENSG00000141644:ENST00000353909:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000339998:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000591416:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000269471:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000457839:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000590208:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000347968:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000382948:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000588937:exon4:c.A474C:p.R158R;ENSG00000141644:ENST00000349085:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000436910:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000269468:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000398495:exon4:c.A474C:p.R158R;ENSG00000141644:ENST00000585672:exon5:c.A474C:p.R158R;ENSG00000141644:ENST00000587605:exon5:c.A474C:p.R158R;	0.118900999502284	0.526
18	47803034	C	A	18	50276664	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.G473T:p.R158L;MBD1:NM_001204151:exon4:c.G473T:p.R158L;MBD1:NM_001204137:exon5:c.G473T:p.R158L;MBD1:NM_015845:exon5:c.G473T:p.R158L;MBD1:NM_001204142:exon5:c.G473T:p.R158L;MBD1:NM_001204143:exon5:c.G473T:p.R158L;MBD1:NM_001204138:exon5:c.G473T:p.R158L;MBD1:NM_015846:exon5:c.G473T:p.R158L;MBD1:NM_001204140:exon5:c.G473T:p.R158L;MBD1:NM_001204139:exon5:c.G473T:p.R158L;MBD1:NM_015844:exon5:c.G473T:p.R158L;MBD1:NM_001204136:exon5:c.G473T:p.R158L;MBD1:NM_015847:exon5:c.G473T:p.R158L;MBD1:NM_001204141:exon5:c.G473T:p.R158L;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000424334:exon5:c.G551T:p.R184L;ENSG00000141644:ENST00000591535:exon4:c.G473T:p.R158L;ENSG00000141644:ENST00000398493:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000398488:exon4:c.G473T:p.R158L;ENSG00000141644:ENST00000353909:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000339998:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000591416:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000269471:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000457839:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000590208:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000347968:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000382948:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000588937:exon4:c.G473T:p.R158L;ENSG00000141644:ENST00000349085:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000436910:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000269468:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000398495:exon4:c.G473T:p.R158L;ENSG00000141644:ENST00000585672:exon5:c.G473T:p.R158L;ENSG00000141644:ENST00000587605:exon5:c.G473T:p.R158L;	0.981546245539659	0.82
18	47803034	C	G	18	50276664	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.G473C:p.R158P;MBD1:NM_001204151:exon4:c.G473C:p.R158P;MBD1:NM_001204137:exon5:c.G473C:p.R158P;MBD1:NM_015845:exon5:c.G473C:p.R158P;MBD1:NM_001204142:exon5:c.G473C:p.R158P;MBD1:NM_001204143:exon5:c.G473C:p.R158P;MBD1:NM_001204138:exon5:c.G473C:p.R158P;MBD1:NM_015846:exon5:c.G473C:p.R158P;MBD1:NM_001204140:exon5:c.G473C:p.R158P;MBD1:NM_001204139:exon5:c.G473C:p.R158P;MBD1:NM_015844:exon5:c.G473C:p.R158P;MBD1:NM_001204136:exon5:c.G473C:p.R158P;MBD1:NM_015847:exon5:c.G473C:p.R158P;MBD1:NM_001204141:exon5:c.G473C:p.R158P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000424334:exon5:c.G551C:p.R184P;ENSG00000141644:ENST00000591535:exon4:c.G473C:p.R158P;ENSG00000141644:ENST00000398493:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000398488:exon4:c.G473C:p.R158P;ENSG00000141644:ENST00000353909:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000339998:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000591416:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000269471:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000457839:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000590208:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000347968:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000382948:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000588937:exon4:c.G473C:p.R158P;ENSG00000141644:ENST00000349085:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000436910:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000269468:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000398495:exon4:c.G473C:p.R158P;ENSG00000141644:ENST00000585672:exon5:c.G473C:p.R158P;ENSG00000141644:ENST00000587605:exon5:c.G473C:p.R158P;	0.946271333195606	0.74
18	47803034	C	T	18	50276664	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.G473A:p.R158Q;MBD1:NM_001204151:exon4:c.G473A:p.R158Q;MBD1:NM_001204137:exon5:c.G473A:p.R158Q;MBD1:NM_015845:exon5:c.G473A:p.R158Q;MBD1:NM_001204142:exon5:c.G473A:p.R158Q;MBD1:NM_001204143:exon5:c.G473A:p.R158Q;MBD1:NM_001204138:exon5:c.G473A:p.R158Q;MBD1:NM_015846:exon5:c.G473A:p.R158Q;MBD1:NM_001204140:exon5:c.G473A:p.R158Q;MBD1:NM_001204139:exon5:c.G473A:p.R158Q;MBD1:NM_015844:exon5:c.G473A:p.R158Q;MBD1:NM_001204136:exon5:c.G473A:p.R158Q;MBD1:NM_015847:exon5:c.G473A:p.R158Q;MBD1:NM_001204141:exon5:c.G473A:p.R158Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000424334:exon5:c.G551A:p.R184Q;ENSG00000141644:ENST00000591535:exon4:c.G473A:p.R158Q;ENSG00000141644:ENST00000398493:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000398488:exon4:c.G473A:p.R158Q;ENSG00000141644:ENST00000353909:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000339998:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000591416:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000269471:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000457839:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000590208:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000347968:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000382948:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000588937:exon4:c.G473A:p.R158Q;ENSG00000141644:ENST00000349085:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000436910:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000269468:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000398495:exon4:c.G473A:p.R158Q;ENSG00000141644:ENST00000585672:exon5:c.G473A:p.R158Q;ENSG00000141644:ENST00000587605:exon5:c.G473A:p.R158Q;	0.930393484225735	0.822
18	47803113	A	C	18	50276743	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.T394G:p.C132G;MBD1:NM_001204151:exon4:c.T394G:p.C132G;MBD1:NM_001204137:exon5:c.T394G:p.C132G;MBD1:NM_015845:exon5:c.T394G:p.C132G;MBD1:NM_001204142:exon5:c.T394G:p.C132G;MBD1:NM_001204143:exon5:c.T394G:p.C132G;MBD1:NM_001204138:exon5:c.T394G:p.C132G;MBD1:NM_015846:exon5:c.T394G:p.C132G;MBD1:NM_001204140:exon5:c.T394G:p.C132G;MBD1:NM_001204139:exon5:c.T394G:p.C132G;MBD1:NM_015844:exon5:c.T394G:p.C132G;MBD1:NM_001204136:exon5:c.T394G:p.C132G;MBD1:NM_015847:exon5:c.T394G:p.C132G;MBD1:NM_001204141:exon5:c.T394G:p.C132G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000424334:exon5:c.T472G:p.C158G;ENSG00000141644:ENST00000591535:exon4:c.T394G:p.C132G;ENSG00000141644:ENST00000398493:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000398488:exon4:c.T394G:p.C132G;ENSG00000141644:ENST00000353909:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000339998:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000591416:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000269471:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000457839:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000590208:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000347968:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000382948:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000588937:exon4:c.T394G:p.C132G;ENSG00000141644:ENST00000349085:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000436910:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000269468:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000398495:exon4:c.T394G:p.C132G;ENSG00000141644:ENST00000585672:exon5:c.T394G:p.C132G;ENSG00000141644:ENST00000587605:exon5:c.T394G:p.C132G;	0.00280683269792841	0.022
18	47803113	A	G	18	50276743	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.T394C:p.C132R;MBD1:NM_001204151:exon4:c.T394C:p.C132R;MBD1:NM_001204137:exon5:c.T394C:p.C132R;MBD1:NM_015845:exon5:c.T394C:p.C132R;MBD1:NM_001204142:exon5:c.T394C:p.C132R;MBD1:NM_001204143:exon5:c.T394C:p.C132R;MBD1:NM_001204138:exon5:c.T394C:p.C132R;MBD1:NM_015846:exon5:c.T394C:p.C132R;MBD1:NM_001204140:exon5:c.T394C:p.C132R;MBD1:NM_001204139:exon5:c.T394C:p.C132R;MBD1:NM_015844:exon5:c.T394C:p.C132R;MBD1:NM_001204136:exon5:c.T394C:p.C132R;MBD1:NM_015847:exon5:c.T394C:p.C132R;MBD1:NM_001204141:exon5:c.T394C:p.C132R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000424334:exon5:c.T472C:p.C158R;ENSG00000141644:ENST00000591535:exon4:c.T394C:p.C132R;ENSG00000141644:ENST00000398493:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000398488:exon4:c.T394C:p.C132R;ENSG00000141644:ENST00000353909:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000339998:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000591416:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000269471:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000457839:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000590208:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000347968:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000382948:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000588937:exon4:c.T394C:p.C132R;ENSG00000141644:ENST00000349085:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000436910:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000269468:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000398495:exon4:c.T394C:p.C132R;ENSG00000141644:ENST00000585672:exon5:c.T394C:p.C132R;ENSG00000141644:ENST00000587605:exon5:c.T394C:p.C132R;	0.0013985708368913	0.026
18	47803113	A	T	18	50276743	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon5:c.T394A:p.C132S;MBD1:NM_001204151:exon4:c.T394A:p.C132S;MBD1:NM_001204137:exon5:c.T394A:p.C132S;MBD1:NM_015845:exon5:c.T394A:p.C132S;MBD1:NM_001204142:exon5:c.T394A:p.C132S;MBD1:NM_001204143:exon5:c.T394A:p.C132S;MBD1:NM_001204138:exon5:c.T394A:p.C132S;MBD1:NM_015846:exon5:c.T394A:p.C132S;MBD1:NM_001204140:exon5:c.T394A:p.C132S;MBD1:NM_001204139:exon5:c.T394A:p.C132S;MBD1:NM_015844:exon5:c.T394A:p.C132S;MBD1:NM_001204136:exon5:c.T394A:p.C132S;MBD1:NM_015847:exon5:c.T394A:p.C132S;MBD1:NM_001204141:exon5:c.T394A:p.C132S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000424334:exon5:c.T472A:p.C158S;ENSG00000141644:ENST00000591535:exon4:c.T394A:p.C132S;ENSG00000141644:ENST00000398493:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000398488:exon4:c.T394A:p.C132S;ENSG00000141644:ENST00000353909:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000339998:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000591416:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000269471:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000457839:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000590208:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000347968:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000382948:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000588937:exon4:c.T394A:p.C132S;ENSG00000141644:ENST00000349085:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000436910:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000269468:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000398495:exon4:c.T394A:p.C132S;ENSG00000141644:ENST00000585672:exon5:c.T394A:p.C132S;ENSG00000141644:ENST00000587605:exon5:c.T394A:p.C132S;	0.0112130958091315	0.022
18	47803114	C	A	18	50276744	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon5:c.G393T:p.G131G;MBD1:NM_001204151:exon4:c.G393T:p.G131G;MBD1:NM_001204137:exon5:c.G393T:p.G131G;MBD1:NM_015845:exon5:c.G393T:p.G131G;MBD1:NM_001204142:exon5:c.G393T:p.G131G;MBD1:NM_001204143:exon5:c.G393T:p.G131G;MBD1:NM_001204138:exon5:c.G393T:p.G131G;MBD1:NM_015846:exon5:c.G393T:p.G131G;MBD1:NM_001204140:exon5:c.G393T:p.G131G;MBD1:NM_001204139:exon5:c.G393T:p.G131G;MBD1:NM_015844:exon5:c.G393T:p.G131G;MBD1:NM_001204136:exon5:c.G393T:p.G131G;MBD1:NM_015847:exon5:c.G393T:p.G131G;MBD1:NM_001204141:exon5:c.G393T:p.G131G;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000424334:exon5:c.G471T:p.G157G;ENSG00000141644:ENST00000591535:exon4:c.G393T:p.G131G;ENSG00000141644:ENST00000398493:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000398488:exon4:c.G393T:p.G131G;ENSG00000141644:ENST00000353909:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000339998:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000591416:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000269471:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000457839:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000590208:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000347968:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000382948:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000588937:exon4:c.G393T:p.G131G;ENSG00000141644:ENST00000349085:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000436910:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000269468:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000398495:exon4:c.G393T:p.G131G;ENSG00000141644:ENST00000585672:exon5:c.G393T:p.G131G;ENSG00000141644:ENST00000587605:exon5:c.G393T:p.G131G;	0.0140968559500307	0.256
18	47803114	C	G	18	50276744	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon5:c.G393C:p.G131G;MBD1:NM_001204151:exon4:c.G393C:p.G131G;MBD1:NM_001204137:exon5:c.G393C:p.G131G;MBD1:NM_015845:exon5:c.G393C:p.G131G;MBD1:NM_001204142:exon5:c.G393C:p.G131G;MBD1:NM_001204143:exon5:c.G393C:p.G131G;MBD1:NM_001204138:exon5:c.G393C:p.G131G;MBD1:NM_015846:exon5:c.G393C:p.G131G;MBD1:NM_001204140:exon5:c.G393C:p.G131G;MBD1:NM_001204139:exon5:c.G393C:p.G131G;MBD1:NM_015844:exon5:c.G393C:p.G131G;MBD1:NM_001204136:exon5:c.G393C:p.G131G;MBD1:NM_015847:exon5:c.G393C:p.G131G;MBD1:NM_001204141:exon5:c.G393C:p.G131G;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000424334:exon5:c.G471C:p.G157G;ENSG00000141644:ENST00000591535:exon4:c.G393C:p.G131G;ENSG00000141644:ENST00000398493:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000398488:exon4:c.G393C:p.G131G;ENSG00000141644:ENST00000353909:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000339998:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000591416:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000269471:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000457839:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000590208:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000347968:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000382948:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000588937:exon4:c.G393C:p.G131G;ENSG00000141644:ENST00000349085:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000436910:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000269468:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000398495:exon4:c.G393C:p.G131G;ENSG00000141644:ENST00000585672:exon5:c.G393C:p.G131G;ENSG00000141644:ENST00000587605:exon5:c.G393C:p.G131G;	0.0013326174827437	0.092
18	47803114	C	T	18	50276744	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon5:c.G393A:p.G131G;MBD1:NM_001204151:exon4:c.G393A:p.G131G;MBD1:NM_001204137:exon5:c.G393A:p.G131G;MBD1:NM_015845:exon5:c.G393A:p.G131G;MBD1:NM_001204142:exon5:c.G393A:p.G131G;MBD1:NM_001204143:exon5:c.G393A:p.G131G;MBD1:NM_001204138:exon5:c.G393A:p.G131G;MBD1:NM_015846:exon5:c.G393A:p.G131G;MBD1:NM_001204140:exon5:c.G393A:p.G131G;MBD1:NM_001204139:exon5:c.G393A:p.G131G;MBD1:NM_015844:exon5:c.G393A:p.G131G;MBD1:NM_001204136:exon5:c.G393A:p.G131G;MBD1:NM_015847:exon5:c.G393A:p.G131G;MBD1:NM_001204141:exon5:c.G393A:p.G131G;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000424334:exon5:c.G471A:p.G157G;ENSG00000141644:ENST00000591535:exon4:c.G393A:p.G131G;ENSG00000141644:ENST00000398493:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000398488:exon4:c.G393A:p.G131G;ENSG00000141644:ENST00000353909:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000339998:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000591416:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000269471:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000457839:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000590208:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000347968:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000382948:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000588937:exon4:c.G393A:p.G131G;ENSG00000141644:ENST00000349085:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000436910:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000269468:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000398495:exon4:c.G393A:p.G131G;ENSG00000141644:ENST00000585672:exon5:c.G393A:p.G131G;ENSG00000141644:ENST00000587605:exon5:c.G393A:p.G131G;	6.27091629092088E-4	0.086
18	47803115	C	A	18	50276745	y	y	splicing	MBD1(NM_001204139:exon6:c.393-1G>T;NM_001204141:exon6:c.393-1G>T;NM_002384:exon6:c.393-1G>T;NM_015847:exon6:c.393-1G>T;NM_015846:exon6:c.393-1G>T;NM_015845:exon6:c.393-1G>T;NM_001204136:exon6:c.393-1G>T;NM_015844:exon6:c.393-1G>T;NM_001204143:exon6:c.393-1G>T;NM_001204142:exon6:c.393-1G>T;NM_001204140:exon6:c.393-1G>T;NM_001204138:exon6:c.393-1G>T;NM_001204137:exon6:c.393-1G>T;NM_001204151:exon5:c.393-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.393-1G>T;ENST00000592060:exon3:c.167-1G>T;ENST00000382948:exon6:c.393-1G>T;ENST00000353909:exon6:c.393-1G>T;ENST00000591416:exon6:c.393-1G>T;ENST00000349085:exon6:c.393-1G>T;ENST00000436910:exon6:c.393-1G>T;ENST00000347968:exon6:c.393-1G>T;ENST00000269468:exon6:c.393-1G>T;ENST00000269471:exon6:c.393-1G>T;ENST00000339998:exon6:c.393-1G>T;ENST00000590208:exon6:c.393-1G>T;ENST00000587605:exon6:c.393-1G>T;ENST00000588937:exon5:c.393-1G>T;ENST00000424334:exon6:c.471-1G>T;ENST00000585595:exon6:c.393-1G>T;ENST00000398495:exon5:c.393-1G>T;ENST00000457839:exon6:c.393-1G>T;ENST00000398493:exon6:c.393-1G>T;ENST00000591535:exon5:c.393-1G>T;ENST00000398488:exon5:c.393-1G>T;ENST00000590215:exon6:c.385-1G>T)	.	.	0.999985532734767	0.936
18	47803115	C	G	18	50276745	y	y	splicing	MBD1(NM_001204139:exon6:c.393-1G>C;NM_001204141:exon6:c.393-1G>C;NM_002384:exon6:c.393-1G>C;NM_015847:exon6:c.393-1G>C;NM_015846:exon6:c.393-1G>C;NM_015845:exon6:c.393-1G>C;NM_001204136:exon6:c.393-1G>C;NM_015844:exon6:c.393-1G>C;NM_001204143:exon6:c.393-1G>C;NM_001204142:exon6:c.393-1G>C;NM_001204140:exon6:c.393-1G>C;NM_001204138:exon6:c.393-1G>C;NM_001204137:exon6:c.393-1G>C;NM_001204151:exon5:c.393-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.393-1G>C;ENST00000592060:exon3:c.167-1G>C;ENST00000382948:exon6:c.393-1G>C;ENST00000353909:exon6:c.393-1G>C;ENST00000591416:exon6:c.393-1G>C;ENST00000349085:exon6:c.393-1G>C;ENST00000436910:exon6:c.393-1G>C;ENST00000347968:exon6:c.393-1G>C;ENST00000269468:exon6:c.393-1G>C;ENST00000269471:exon6:c.393-1G>C;ENST00000339998:exon6:c.393-1G>C;ENST00000590208:exon6:c.393-1G>C;ENST00000587605:exon6:c.393-1G>C;ENST00000588937:exon5:c.393-1G>C;ENST00000424334:exon6:c.471-1G>C;ENST00000585595:exon6:c.393-1G>C;ENST00000398495:exon5:c.393-1G>C;ENST00000457839:exon6:c.393-1G>C;ENST00000398493:exon6:c.393-1G>C;ENST00000591535:exon5:c.393-1G>C;ENST00000398488:exon5:c.393-1G>C;ENST00000590215:exon6:c.385-1G>C)	.	.	0.999985532734767	0.936
18	47803115	C	T	18	50276745	y	y	splicing	MBD1(NM_001204139:exon6:c.393-1G>A;NM_001204141:exon6:c.393-1G>A;NM_002384:exon6:c.393-1G>A;NM_015847:exon6:c.393-1G>A;NM_015846:exon6:c.393-1G>A;NM_015845:exon6:c.393-1G>A;NM_001204136:exon6:c.393-1G>A;NM_015844:exon6:c.393-1G>A;NM_001204143:exon6:c.393-1G>A;NM_001204142:exon6:c.393-1G>A;NM_001204140:exon6:c.393-1G>A;NM_001204138:exon6:c.393-1G>A;NM_001204137:exon6:c.393-1G>A;NM_001204151:exon5:c.393-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.393-1G>A;ENST00000592060:exon3:c.167-1G>A;ENST00000382948:exon6:c.393-1G>A;ENST00000353909:exon6:c.393-1G>A;ENST00000591416:exon6:c.393-1G>A;ENST00000349085:exon6:c.393-1G>A;ENST00000436910:exon6:c.393-1G>A;ENST00000347968:exon6:c.393-1G>A;ENST00000269468:exon6:c.393-1G>A;ENST00000269471:exon6:c.393-1G>A;ENST00000339998:exon6:c.393-1G>A;ENST00000590208:exon6:c.393-1G>A;ENST00000587605:exon6:c.393-1G>A;ENST00000588937:exon5:c.393-1G>A;ENST00000424334:exon6:c.471-1G>A;ENST00000585595:exon6:c.393-1G>A;ENST00000398495:exon5:c.393-1G>A;ENST00000457839:exon6:c.393-1G>A;ENST00000398493:exon6:c.393-1G>A;ENST00000591535:exon5:c.393-1G>A;ENST00000398488:exon5:c.393-1G>A;ENST00000590215:exon6:c.385-1G>A)	.	.	0.999985532734767	0.936
18	47803116	T	A	18	50276746	y	y	splicing	MBD1(NM_001204139:exon6:c.393-2A>T;NM_001204141:exon6:c.393-2A>T;NM_002384:exon6:c.393-2A>T;NM_015847:exon6:c.393-2A>T;NM_015846:exon6:c.393-2A>T;NM_015845:exon6:c.393-2A>T;NM_001204136:exon6:c.393-2A>T;NM_015844:exon6:c.393-2A>T;NM_001204143:exon6:c.393-2A>T;NM_001204142:exon6:c.393-2A>T;NM_001204140:exon6:c.393-2A>T;NM_001204138:exon6:c.393-2A>T;NM_001204137:exon6:c.393-2A>T;NM_001204151:exon5:c.393-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.393-2A>T;ENST00000592060:exon3:c.167-2A>T;ENST00000382948:exon6:c.393-2A>T;ENST00000353909:exon6:c.393-2A>T;ENST00000591416:exon6:c.393-2A>T;ENST00000349085:exon6:c.393-2A>T;ENST00000436910:exon6:c.393-2A>T;ENST00000347968:exon6:c.393-2A>T;ENST00000269468:exon6:c.393-2A>T;ENST00000269471:exon6:c.393-2A>T;ENST00000339998:exon6:c.393-2A>T;ENST00000590208:exon6:c.393-2A>T;ENST00000587605:exon6:c.393-2A>T;ENST00000588937:exon5:c.393-2A>T;ENST00000424334:exon6:c.471-2A>T;ENST00000585595:exon6:c.393-2A>T;ENST00000398495:exon5:c.393-2A>T;ENST00000457839:exon6:c.393-2A>T;ENST00000398493:exon6:c.393-2A>T;ENST00000591535:exon5:c.393-2A>T;ENST00000398488:exon5:c.393-2A>T;ENST00000590215:exon6:c.385-2A>T)	.	.	0.999988247793601	0.928
18	47803116	T	C	18	50276746	y	y	splicing	MBD1(NM_001204139:exon6:c.393-2A>G;NM_001204141:exon6:c.393-2A>G;NM_002384:exon6:c.393-2A>G;NM_015847:exon6:c.393-2A>G;NM_015846:exon6:c.393-2A>G;NM_015845:exon6:c.393-2A>G;NM_001204136:exon6:c.393-2A>G;NM_015844:exon6:c.393-2A>G;NM_001204143:exon6:c.393-2A>G;NM_001204142:exon6:c.393-2A>G;NM_001204140:exon6:c.393-2A>G;NM_001204138:exon6:c.393-2A>G;NM_001204137:exon6:c.393-2A>G;NM_001204151:exon5:c.393-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.393-2A>G;ENST00000592060:exon3:c.167-2A>G;ENST00000382948:exon6:c.393-2A>G;ENST00000353909:exon6:c.393-2A>G;ENST00000591416:exon6:c.393-2A>G;ENST00000349085:exon6:c.393-2A>G;ENST00000436910:exon6:c.393-2A>G;ENST00000347968:exon6:c.393-2A>G;ENST00000269468:exon6:c.393-2A>G;ENST00000269471:exon6:c.393-2A>G;ENST00000339998:exon6:c.393-2A>G;ENST00000590208:exon6:c.393-2A>G;ENST00000587605:exon6:c.393-2A>G;ENST00000588937:exon5:c.393-2A>G;ENST00000424334:exon6:c.471-2A>G;ENST00000585595:exon6:c.393-2A>G;ENST00000398495:exon5:c.393-2A>G;ENST00000457839:exon6:c.393-2A>G;ENST00000398493:exon6:c.393-2A>G;ENST00000591535:exon5:c.393-2A>G;ENST00000398488:exon5:c.393-2A>G;ENST00000590215:exon6:c.385-2A>G)	.	.	0.999988247793601	0.928
18	47803116	T	G	18	50276746	y	y	splicing	MBD1(NM_001204139:exon6:c.393-2A>C;NM_001204141:exon6:c.393-2A>C;NM_002384:exon6:c.393-2A>C;NM_015847:exon6:c.393-2A>C;NM_015846:exon6:c.393-2A>C;NM_015845:exon6:c.393-2A>C;NM_001204136:exon6:c.393-2A>C;NM_015844:exon6:c.393-2A>C;NM_001204143:exon6:c.393-2A>C;NM_001204142:exon6:c.393-2A>C;NM_001204140:exon6:c.393-2A>C;NM_001204138:exon6:c.393-2A>C;NM_001204137:exon6:c.393-2A>C;NM_001204151:exon5:c.393-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon6:c.393-2A>C;ENST00000592060:exon3:c.167-2A>C;ENST00000382948:exon6:c.393-2A>C;ENST00000353909:exon6:c.393-2A>C;ENST00000591416:exon6:c.393-2A>C;ENST00000349085:exon6:c.393-2A>C;ENST00000436910:exon6:c.393-2A>C;ENST00000347968:exon6:c.393-2A>C;ENST00000269468:exon6:c.393-2A>C;ENST00000269471:exon6:c.393-2A>C;ENST00000339998:exon6:c.393-2A>C;ENST00000590208:exon6:c.393-2A>C;ENST00000587605:exon6:c.393-2A>C;ENST00000588937:exon5:c.393-2A>C;ENST00000424334:exon6:c.471-2A>C;ENST00000585595:exon6:c.393-2A>C;ENST00000398495:exon5:c.393-2A>C;ENST00000457839:exon6:c.393-2A>C;ENST00000398493:exon6:c.393-2A>C;ENST00000591535:exon5:c.393-2A>C;ENST00000398488:exon5:c.393-2A>C;ENST00000590215:exon6:c.385-2A>C)	.	.	0.999988247793601	0.928
18	47803117	G	A	18	50276747	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.05312206123001E-4	0.07
18	47803117	G	C	18	50276747	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.922758178110932	0.788
18	47803117	G	T	18	50276747	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.289268437542082	0.372
18	47803118	G	A	18	50276748	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.09838988005945E-5	0.002
18	47803118	G	C	18	50276748	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.61940258936446E-5	0.0
18	47803118	G	T	18	50276748	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.61940258936446E-5	0.0
18	47803119	G	A	18	50276749	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.41701428669515E-5	0.002
18	47803119	G	C	18	50276749	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.43793547730332E-4	0.05
18	47803119	G	T	18	50276749	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.70502349317999E-4	0.04
18	47803120	A	C	18	50276750	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999555812919989	0.972
18	47803120	A	G	18	50276750	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.81006921078667E-4	0.0
18	47803120	A	T	18	50276750	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00469449675526443	0.056
18	47803121	T	A	18	50276751	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.52844568705165E-5	0.0
18	47803121	T	C	18	50276751	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.11643828692602E-5	0.0
18	47803121	T	G	18	50276751	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.55075575398437E-5	0.0
18	47803122	G	A	18	50276752	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.5073573409202E-5	0.002
18	47803122	G	C	18	50276752	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.65412988037912E-5	0.012
18	47803122	G	T	18	50276752	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.67002313875822E-5	0.02
18	47803123	G	A	18	50276753	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.54004579421376E-5	0.014
18	47803123	G	C	18	50276753	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.52846453123215E-4	0.034
18	47803123	G	T	18	50276753	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00187034834052412	0.21
18	47803124	G	A	18	50276754	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.92367362694412E-5	0.0
18	47803124	G	C	18	50276754	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00145168366675651	0.018
18	47803124	G	T	18	50276754	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.27230488163753E-4	0.044
18	47803125	A	C	18	50276755	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0404556504767148	0.43
18	47803125	A	G	18	50276755	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0172777654116897	0.156
18	47803125	A	T	18	50276755	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0186615915184046	0.456
18	47803126	A	C	18	50276756	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00852006211193769	0.272
18	47803126	A	G	18	50276756	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.83401622146035E-4	0.054
18	47803126	A	T	18	50276756	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00438873372254191	0.336
18	47803194	A	C	18	50276824	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00170256651005059	0.018
18	47803194	A	G	18	50276824	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00147549696111238	0.016
18	47803194	A	T	18	50276824	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00118117989979101	0.006
18	47803195	C	A	18	50276825	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.16193819845585E-4	0.006
18	47803195	C	G	18	50276825	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.1090379947797E-5	0.0
18	47803195	C	T	18	50276825	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.1090379947797E-5	0.0
18	47803196	A	C	18	50276826	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.402954476634534	0.444
18	47803196	A	G	18	50276826	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.650093528144025	0.392
18	47803196	A	T	18	50276826	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.958285458697006	0.532
18	47803197	C	A	18	50276827	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999981780100128	0.974
18	47803197	C	G	18	50276827	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99998276817468	0.97
18	47803197	C	T	18	50276827	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99997786345033	0.988
18	47803198	T	A	18	50276828	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.964300816740323	0.736
18	47803198	T	C	18	50276828	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.971094827336858	0.71
18	47803198	T	G	18	50276828	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.810060989437832	0.564
18	47803199	C	A	18	50276829	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.722085393606754	0.47
18	47803199	C	G	18	50276829	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.900834372630238	0.528
18	47803199	C	T	18	50276829	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.16566708045965E-5	0.0
18	47803200	A	C	18	50276830	y	y	splicing	MBD1(NM_001204139:exon5:c.392+2T>G;NM_001204141:exon5:c.392+2T>G;NM_002384:exon5:c.392+2T>G;NM_015847:exon5:c.392+2T>G;NM_015846:exon5:c.392+2T>G;NM_015845:exon5:c.392+2T>G;NM_001204136:exon5:c.392+2T>G;NM_015844:exon5:c.392+2T>G;NM_001204143:exon5:c.392+2T>G;NM_001204142:exon5:c.392+2T>G;NM_001204140:exon5:c.392+2T>G;NM_001204138:exon5:c.392+2T>G;NM_001204137:exon5:c.392+2T>G;NM_001204151:exon4:c.392+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.392+2T>G;ENST00000592060:exon2:c.166+2T>G;ENST00000382948:exon5:c.392+2T>G;ENST00000353909:exon5:c.392+2T>G;ENST00000591416:exon5:c.392+2T>G;ENST00000349085:exon5:c.392+2T>G;ENST00000436910:exon5:c.392+2T>G;ENST00000347968:exon5:c.392+2T>G;ENST00000269468:exon5:c.392+2T>G;ENST00000269471:exon5:c.392+2T>G;ENST00000339998:exon5:c.392+2T>G;ENST00000590208:exon5:c.392+2T>G;ENST00000587605:exon5:c.392+2T>G;ENST00000588937:exon4:c.392+2T>G;ENST00000424334:exon5:c.470+2T>G;ENST00000585595:exon5:c.392+2T>G;ENST00000398495:exon4:c.392+2T>G;ENST00000457839:exon5:c.392+2T>G;ENST00000398493:exon5:c.392+2T>G;ENST00000591535:exon4:c.392+2T>G;ENST00000398488:exon4:c.392+2T>G;ENST00000590215:exon5:c.384+2T>G)	.	.	0.99994568797423	0.946
18	47803200	A	G	18	50276830	y	y	splicing	MBD1(NM_001204139:exon5:c.392+2T>C;NM_001204141:exon5:c.392+2T>C;NM_002384:exon5:c.392+2T>C;NM_015847:exon5:c.392+2T>C;NM_015846:exon5:c.392+2T>C;NM_015845:exon5:c.392+2T>C;NM_001204136:exon5:c.392+2T>C;NM_015844:exon5:c.392+2T>C;NM_001204143:exon5:c.392+2T>C;NM_001204142:exon5:c.392+2T>C;NM_001204140:exon5:c.392+2T>C;NM_001204138:exon5:c.392+2T>C;NM_001204137:exon5:c.392+2T>C;NM_001204151:exon4:c.392+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.392+2T>C;ENST00000592060:exon2:c.166+2T>C;ENST00000382948:exon5:c.392+2T>C;ENST00000353909:exon5:c.392+2T>C;ENST00000591416:exon5:c.392+2T>C;ENST00000349085:exon5:c.392+2T>C;ENST00000436910:exon5:c.392+2T>C;ENST00000347968:exon5:c.392+2T>C;ENST00000269468:exon5:c.392+2T>C;ENST00000269471:exon5:c.392+2T>C;ENST00000339998:exon5:c.392+2T>C;ENST00000590208:exon5:c.392+2T>C;ENST00000587605:exon5:c.392+2T>C;ENST00000588937:exon4:c.392+2T>C;ENST00000424334:exon5:c.470+2T>C;ENST00000585595:exon5:c.392+2T>C;ENST00000398495:exon4:c.392+2T>C;ENST00000457839:exon5:c.392+2T>C;ENST00000398493:exon5:c.392+2T>C;ENST00000591535:exon4:c.392+2T>C;ENST00000398488:exon4:c.392+2T>C;ENST00000590215:exon5:c.384+2T>C)	.	.	0.999688424215117	0.918
18	47803200	A	T	18	50276830	y	y	splicing	MBD1(NM_001204139:exon5:c.392+2T>A;NM_001204141:exon5:c.392+2T>A;NM_002384:exon5:c.392+2T>A;NM_015847:exon5:c.392+2T>A;NM_015846:exon5:c.392+2T>A;NM_015845:exon5:c.392+2T>A;NM_001204136:exon5:c.392+2T>A;NM_015844:exon5:c.392+2T>A;NM_001204143:exon5:c.392+2T>A;NM_001204142:exon5:c.392+2T>A;NM_001204140:exon5:c.392+2T>A;NM_001204138:exon5:c.392+2T>A;NM_001204137:exon5:c.392+2T>A;NM_001204151:exon4:c.392+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.392+2T>A;ENST00000592060:exon2:c.166+2T>A;ENST00000382948:exon5:c.392+2T>A;ENST00000353909:exon5:c.392+2T>A;ENST00000591416:exon5:c.392+2T>A;ENST00000349085:exon5:c.392+2T>A;ENST00000436910:exon5:c.392+2T>A;ENST00000347968:exon5:c.392+2T>A;ENST00000269468:exon5:c.392+2T>A;ENST00000269471:exon5:c.392+2T>A;ENST00000339998:exon5:c.392+2T>A;ENST00000590208:exon5:c.392+2T>A;ENST00000587605:exon5:c.392+2T>A;ENST00000588937:exon4:c.392+2T>A;ENST00000424334:exon5:c.470+2T>A;ENST00000585595:exon5:c.392+2T>A;ENST00000398495:exon4:c.392+2T>A;ENST00000457839:exon5:c.392+2T>A;ENST00000398493:exon5:c.392+2T>A;ENST00000591535:exon4:c.392+2T>A;ENST00000398488:exon4:c.392+2T>A;ENST00000590215:exon5:c.384+2T>A)	.	.	0.99994568797423	0.942
18	47803201	C	A	18	50276831	y	y	splicing	MBD1(NM_001204139:exon5:c.392+1G>T;NM_001204141:exon5:c.392+1G>T;NM_002384:exon5:c.392+1G>T;NM_015847:exon5:c.392+1G>T;NM_015846:exon5:c.392+1G>T;NM_015845:exon5:c.392+1G>T;NM_001204136:exon5:c.392+1G>T;NM_015844:exon5:c.392+1G>T;NM_001204143:exon5:c.392+1G>T;NM_001204142:exon5:c.392+1G>T;NM_001204140:exon5:c.392+1G>T;NM_001204138:exon5:c.392+1G>T;NM_001204137:exon5:c.392+1G>T;NM_001204151:exon4:c.392+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.392+1G>T;ENST00000592060:exon2:c.166+1G>T;ENST00000382948:exon5:c.392+1G>T;ENST00000353909:exon5:c.392+1G>T;ENST00000591416:exon5:c.392+1G>T;ENST00000349085:exon5:c.392+1G>T;ENST00000436910:exon5:c.392+1G>T;ENST00000347968:exon5:c.392+1G>T;ENST00000269468:exon5:c.392+1G>T;ENST00000269471:exon5:c.392+1G>T;ENST00000339998:exon5:c.392+1G>T;ENST00000590208:exon5:c.392+1G>T;ENST00000587605:exon5:c.392+1G>T;ENST00000588937:exon4:c.392+1G>T;ENST00000424334:exon5:c.470+1G>T;ENST00000585595:exon5:c.392+1G>T;ENST00000398495:exon4:c.392+1G>T;ENST00000457839:exon5:c.392+1G>T;ENST00000398493:exon5:c.392+1G>T;ENST00000591535:exon4:c.392+1G>T;ENST00000398488:exon4:c.392+1G>T;ENST00000590215:exon5:c.384+1G>T)	.	.	0.99995545544995	0.944
18	47803201	C	G	18	50276831	y	y	splicing	MBD1(NM_001204139:exon5:c.392+1G>C;NM_001204141:exon5:c.392+1G>C;NM_002384:exon5:c.392+1G>C;NM_015847:exon5:c.392+1G>C;NM_015846:exon5:c.392+1G>C;NM_015845:exon5:c.392+1G>C;NM_001204136:exon5:c.392+1G>C;NM_015844:exon5:c.392+1G>C;NM_001204143:exon5:c.392+1G>C;NM_001204142:exon5:c.392+1G>C;NM_001204140:exon5:c.392+1G>C;NM_001204138:exon5:c.392+1G>C;NM_001204137:exon5:c.392+1G>C;NM_001204151:exon4:c.392+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.392+1G>C;ENST00000592060:exon2:c.166+1G>C;ENST00000382948:exon5:c.392+1G>C;ENST00000353909:exon5:c.392+1G>C;ENST00000591416:exon5:c.392+1G>C;ENST00000349085:exon5:c.392+1G>C;ENST00000436910:exon5:c.392+1G>C;ENST00000347968:exon5:c.392+1G>C;ENST00000269468:exon5:c.392+1G>C;ENST00000269471:exon5:c.392+1G>C;ENST00000339998:exon5:c.392+1G>C;ENST00000590208:exon5:c.392+1G>C;ENST00000587605:exon5:c.392+1G>C;ENST00000588937:exon4:c.392+1G>C;ENST00000424334:exon5:c.470+1G>C;ENST00000585595:exon5:c.392+1G>C;ENST00000398495:exon4:c.392+1G>C;ENST00000457839:exon5:c.392+1G>C;ENST00000398493:exon5:c.392+1G>C;ENST00000591535:exon4:c.392+1G>C;ENST00000398488:exon4:c.392+1G>C;ENST00000590215:exon5:c.384+1G>C)	.	.	0.99995545544995	0.948
18	47803201	C	T	18	50276831	y	y	splicing	MBD1(NM_001204139:exon5:c.392+1G>A;NM_001204141:exon5:c.392+1G>A;NM_002384:exon5:c.392+1G>A;NM_015847:exon5:c.392+1G>A;NM_015846:exon5:c.392+1G>A;NM_015845:exon5:c.392+1G>A;NM_001204136:exon5:c.392+1G>A;NM_015844:exon5:c.392+1G>A;NM_001204143:exon5:c.392+1G>A;NM_001204142:exon5:c.392+1G>A;NM_001204140:exon5:c.392+1G>A;NM_001204138:exon5:c.392+1G>A;NM_001204137:exon5:c.392+1G>A;NM_001204151:exon4:c.392+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.392+1G>A;ENST00000592060:exon2:c.166+1G>A;ENST00000382948:exon5:c.392+1G>A;ENST00000353909:exon5:c.392+1G>A;ENST00000591416:exon5:c.392+1G>A;ENST00000349085:exon5:c.392+1G>A;ENST00000436910:exon5:c.392+1G>A;ENST00000347968:exon5:c.392+1G>A;ENST00000269468:exon5:c.392+1G>A;ENST00000269471:exon5:c.392+1G>A;ENST00000339998:exon5:c.392+1G>A;ENST00000590208:exon5:c.392+1G>A;ENST00000587605:exon5:c.392+1G>A;ENST00000588937:exon4:c.392+1G>A;ENST00000424334:exon5:c.470+1G>A;ENST00000585595:exon5:c.392+1G>A;ENST00000398495:exon4:c.392+1G>A;ENST00000457839:exon5:c.392+1G>A;ENST00000398493:exon5:c.392+1G>A;ENST00000591535:exon4:c.392+1G>A;ENST00000398488:exon4:c.392+1G>A;ENST00000590215:exon5:c.384+1G>A)	.	.	0.99995545544995	0.944
18	47803202	C	A	18	50276832	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G392T:p.G131V;MBD1:NM_001204151:exon3:c.G392T:p.G131V;MBD1:NM_001204137:exon4:c.G392T:p.G131V;MBD1:NM_015845:exon4:c.G392T:p.G131V;MBD1:NM_001204142:exon4:c.G392T:p.G131V;MBD1:NM_001204143:exon4:c.G392T:p.G131V;MBD1:NM_001204138:exon4:c.G392T:p.G131V;MBD1:NM_015846:exon4:c.G392T:p.G131V;MBD1:NM_001204140:exon4:c.G392T:p.G131V;MBD1:NM_001204139:exon4:c.G392T:p.G131V;MBD1:NM_015844:exon4:c.G392T:p.G131V;MBD1:NM_001204136:exon4:c.G392T:p.G131V;MBD1:NM_015847:exon4:c.G392T:p.G131V;MBD1:NM_001204141:exon4:c.G392T:p.G131V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000424334:exon4:c.G470T:p.G157V;ENSG00000141644:ENST00000591535:exon3:c.G392T:p.G131V;ENSG00000141644:ENST00000398493:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000398488:exon3:c.G392T:p.G131V;ENSG00000141644:ENST00000353909:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000339998:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000591416:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000269471:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000457839:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000590208:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000347968:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000382948:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000588937:exon3:c.G392T:p.G131V;ENSG00000141644:ENST00000349085:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000436910:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000269468:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000398495:exon3:c.G392T:p.G131V;ENSG00000141644:ENST00000585672:exon4:c.G392T:p.G131V;ENSG00000141644:ENST00000587605:exon4:c.G392T:p.G131V;	0.9978559222346	0.848
18	47803202	C	G	18	50276832	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G392C:p.G131A;MBD1:NM_001204151:exon3:c.G392C:p.G131A;MBD1:NM_001204137:exon4:c.G392C:p.G131A;MBD1:NM_015845:exon4:c.G392C:p.G131A;MBD1:NM_001204142:exon4:c.G392C:p.G131A;MBD1:NM_001204143:exon4:c.G392C:p.G131A;MBD1:NM_001204138:exon4:c.G392C:p.G131A;MBD1:NM_015846:exon4:c.G392C:p.G131A;MBD1:NM_001204140:exon4:c.G392C:p.G131A;MBD1:NM_001204139:exon4:c.G392C:p.G131A;MBD1:NM_015844:exon4:c.G392C:p.G131A;MBD1:NM_001204136:exon4:c.G392C:p.G131A;MBD1:NM_015847:exon4:c.G392C:p.G131A;MBD1:NM_001204141:exon4:c.G392C:p.G131A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000424334:exon4:c.G470C:p.G157A;ENSG00000141644:ENST00000591535:exon3:c.G392C:p.G131A;ENSG00000141644:ENST00000398493:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000398488:exon3:c.G392C:p.G131A;ENSG00000141644:ENST00000353909:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000339998:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000591416:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000269471:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000457839:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000590208:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000347968:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000382948:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000588937:exon3:c.G392C:p.G131A;ENSG00000141644:ENST00000349085:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000436910:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000269468:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000398495:exon3:c.G392C:p.G131A;ENSG00000141644:ENST00000585672:exon4:c.G392C:p.G131A;ENSG00000141644:ENST00000587605:exon4:c.G392C:p.G131A;	0.990985180781167	0.692
18	47803202	C	T	18	50276832	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G392A:p.G131E;MBD1:NM_001204151:exon3:c.G392A:p.G131E;MBD1:NM_001204137:exon4:c.G392A:p.G131E;MBD1:NM_015845:exon4:c.G392A:p.G131E;MBD1:NM_001204142:exon4:c.G392A:p.G131E;MBD1:NM_001204143:exon4:c.G392A:p.G131E;MBD1:NM_001204138:exon4:c.G392A:p.G131E;MBD1:NM_015846:exon4:c.G392A:p.G131E;MBD1:NM_001204140:exon4:c.G392A:p.G131E;MBD1:NM_001204139:exon4:c.G392A:p.G131E;MBD1:NM_015844:exon4:c.G392A:p.G131E;MBD1:NM_001204136:exon4:c.G392A:p.G131E;MBD1:NM_015847:exon4:c.G392A:p.G131E;MBD1:NM_001204141:exon4:c.G392A:p.G131E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000424334:exon4:c.G470A:p.G157E;ENSG00000141644:ENST00000591535:exon3:c.G392A:p.G131E;ENSG00000141644:ENST00000398493:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000398488:exon3:c.G392A:p.G131E;ENSG00000141644:ENST00000353909:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000339998:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000591416:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000269471:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000457839:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000590208:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000347968:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000382948:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000588937:exon3:c.G392A:p.G131E;ENSG00000141644:ENST00000349085:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000436910:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000269468:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000398495:exon3:c.G392A:p.G131E;ENSG00000141644:ENST00000585672:exon4:c.G392A:p.G131E;ENSG00000141644:ENST00000587605:exon4:c.G392A:p.G131E;	0.999200501778868	0.96
18	47803203	C	A	18	50276833	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G391T:p.G131W;MBD1:NM_001204151:exon3:c.G391T:p.G131W;MBD1:NM_001204137:exon4:c.G391T:p.G131W;MBD1:NM_015845:exon4:c.G391T:p.G131W;MBD1:NM_001204142:exon4:c.G391T:p.G131W;MBD1:NM_001204143:exon4:c.G391T:p.G131W;MBD1:NM_001204138:exon4:c.G391T:p.G131W;MBD1:NM_015846:exon4:c.G391T:p.G131W;MBD1:NM_001204140:exon4:c.G391T:p.G131W;MBD1:NM_001204139:exon4:c.G391T:p.G131W;MBD1:NM_015844:exon4:c.G391T:p.G131W;MBD1:NM_001204136:exon4:c.G391T:p.G131W;MBD1:NM_015847:exon4:c.G391T:p.G131W;MBD1:NM_001204141:exon4:c.G391T:p.G131W;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000424334:exon4:c.G469T:p.G157W;ENSG00000141644:ENST00000591535:exon3:c.G391T:p.G131W;ENSG00000141644:ENST00000398493:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000398488:exon3:c.G391T:p.G131W;ENSG00000141644:ENST00000353909:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000339998:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000591416:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000269471:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000457839:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000590208:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000347968:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000382948:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000588937:exon3:c.G391T:p.G131W;ENSG00000141644:ENST00000349085:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000436910:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000269468:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000398495:exon3:c.G391T:p.G131W;ENSG00000141644:ENST00000585672:exon4:c.G391T:p.G131W;ENSG00000141644:ENST00000587605:exon4:c.G391T:p.G131W;	0.0674347575921297	0.236
18	47803203	C	G	18	50276833	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G391C:p.G131R;MBD1:NM_001204151:exon3:c.G391C:p.G131R;MBD1:NM_001204137:exon4:c.G391C:p.G131R;MBD1:NM_015845:exon4:c.G391C:p.G131R;MBD1:NM_001204142:exon4:c.G391C:p.G131R;MBD1:NM_001204143:exon4:c.G391C:p.G131R;MBD1:NM_001204138:exon4:c.G391C:p.G131R;MBD1:NM_015846:exon4:c.G391C:p.G131R;MBD1:NM_001204140:exon4:c.G391C:p.G131R;MBD1:NM_001204139:exon4:c.G391C:p.G131R;MBD1:NM_015844:exon4:c.G391C:p.G131R;MBD1:NM_001204136:exon4:c.G391C:p.G131R;MBD1:NM_015847:exon4:c.G391C:p.G131R;MBD1:NM_001204141:exon4:c.G391C:p.G131R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000424334:exon4:c.G469C:p.G157R;ENSG00000141644:ENST00000591535:exon3:c.G391C:p.G131R;ENSG00000141644:ENST00000398493:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000398488:exon3:c.G391C:p.G131R;ENSG00000141644:ENST00000353909:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000339998:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000591416:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000269471:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000457839:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000590208:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000347968:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000382948:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000588937:exon3:c.G391C:p.G131R;ENSG00000141644:ENST00000349085:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000436910:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000269468:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000398495:exon3:c.G391C:p.G131R;ENSG00000141644:ENST00000585672:exon4:c.G391C:p.G131R;ENSG00000141644:ENST00000587605:exon4:c.G391C:p.G131R;	0.00142266796895524	0.038
18	47803203	C	T	18	50276833	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G391A:p.G131R;MBD1:NM_001204151:exon3:c.G391A:p.G131R;MBD1:NM_001204137:exon4:c.G391A:p.G131R;MBD1:NM_015845:exon4:c.G391A:p.G131R;MBD1:NM_001204142:exon4:c.G391A:p.G131R;MBD1:NM_001204143:exon4:c.G391A:p.G131R;MBD1:NM_001204138:exon4:c.G391A:p.G131R;MBD1:NM_015846:exon4:c.G391A:p.G131R;MBD1:NM_001204140:exon4:c.G391A:p.G131R;MBD1:NM_001204139:exon4:c.G391A:p.G131R;MBD1:NM_015844:exon4:c.G391A:p.G131R;MBD1:NM_001204136:exon4:c.G391A:p.G131R;MBD1:NM_015847:exon4:c.G391A:p.G131R;MBD1:NM_001204141:exon4:c.G391A:p.G131R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000424334:exon4:c.G469A:p.G157R;ENSG00000141644:ENST00000591535:exon3:c.G391A:p.G131R;ENSG00000141644:ENST00000398493:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000398488:exon3:c.G391A:p.G131R;ENSG00000141644:ENST00000353909:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000339998:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000591416:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000269471:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000457839:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000590208:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000347968:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000382948:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000588937:exon3:c.G391A:p.G131R;ENSG00000141644:ENST00000349085:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000436910:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000269468:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000398495:exon3:c.G391A:p.G131R;ENSG00000141644:ENST00000585672:exon4:c.G391A:p.G131R;ENSG00000141644:ENST00000587605:exon4:c.G391A:p.G131R;	7.35065232256933E-4	0.084
18	47803204	A	C	18	50276834	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon4:c.T390G:p.P130P;MBD1:NM_001204151:exon3:c.T390G:p.P130P;MBD1:NM_001204137:exon4:c.T390G:p.P130P;MBD1:NM_015845:exon4:c.T390G:p.P130P;MBD1:NM_001204142:exon4:c.T390G:p.P130P;MBD1:NM_001204143:exon4:c.T390G:p.P130P;MBD1:NM_001204138:exon4:c.T390G:p.P130P;MBD1:NM_015846:exon4:c.T390G:p.P130P;MBD1:NM_001204140:exon4:c.T390G:p.P130P;MBD1:NM_001204139:exon4:c.T390G:p.P130P;MBD1:NM_015844:exon4:c.T390G:p.P130P;MBD1:NM_001204136:exon4:c.T390G:p.P130P;MBD1:NM_015847:exon4:c.T390G:p.P130P;MBD1:NM_001204141:exon4:c.T390G:p.P130P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000424334:exon4:c.T468G:p.P156P;ENSG00000141644:ENST00000591535:exon3:c.T390G:p.P130P;ENSG00000141644:ENST00000398493:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000398488:exon3:c.T390G:p.P130P;ENSG00000141644:ENST00000353909:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000339998:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000591416:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000269471:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000457839:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000590208:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000347968:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000382948:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000588937:exon3:c.T390G:p.P130P;ENSG00000141644:ENST00000349085:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000436910:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000269468:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000398495:exon3:c.T390G:p.P130P;ENSG00000141644:ENST00000585672:exon4:c.T390G:p.P130P;ENSG00000141644:ENST00000587605:exon4:c.T390G:p.P130P;	0.0189811796854866	0.074
18	47803204	A	G	18	50276834	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon4:c.T390C:p.P130P;MBD1:NM_001204151:exon3:c.T390C:p.P130P;MBD1:NM_001204137:exon4:c.T390C:p.P130P;MBD1:NM_015845:exon4:c.T390C:p.P130P;MBD1:NM_001204142:exon4:c.T390C:p.P130P;MBD1:NM_001204143:exon4:c.T390C:p.P130P;MBD1:NM_001204138:exon4:c.T390C:p.P130P;MBD1:NM_015846:exon4:c.T390C:p.P130P;MBD1:NM_001204140:exon4:c.T390C:p.P130P;MBD1:NM_001204139:exon4:c.T390C:p.P130P;MBD1:NM_015844:exon4:c.T390C:p.P130P;MBD1:NM_001204136:exon4:c.T390C:p.P130P;MBD1:NM_015847:exon4:c.T390C:p.P130P;MBD1:NM_001204141:exon4:c.T390C:p.P130P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000424334:exon4:c.T468C:p.P156P;ENSG00000141644:ENST00000591535:exon3:c.T390C:p.P130P;ENSG00000141644:ENST00000398493:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000398488:exon3:c.T390C:p.P130P;ENSG00000141644:ENST00000353909:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000339998:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000591416:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000269471:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000457839:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000590208:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000347968:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000382948:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000588937:exon3:c.T390C:p.P130P;ENSG00000141644:ENST00000349085:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000436910:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000269468:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000398495:exon3:c.T390C:p.P130P;ENSG00000141644:ENST00000585672:exon4:c.T390C:p.P130P;ENSG00000141644:ENST00000587605:exon4:c.T390C:p.P130P;	0.00138272552833021	0.006
18	47803204	A	T	18	50276834	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon4:c.T390A:p.P130P;MBD1:NM_001204151:exon3:c.T390A:p.P130P;MBD1:NM_001204137:exon4:c.T390A:p.P130P;MBD1:NM_015845:exon4:c.T390A:p.P130P;MBD1:NM_001204142:exon4:c.T390A:p.P130P;MBD1:NM_001204143:exon4:c.T390A:p.P130P;MBD1:NM_001204138:exon4:c.T390A:p.P130P;MBD1:NM_015846:exon4:c.T390A:p.P130P;MBD1:NM_001204140:exon4:c.T390A:p.P130P;MBD1:NM_001204139:exon4:c.T390A:p.P130P;MBD1:NM_015844:exon4:c.T390A:p.P130P;MBD1:NM_001204136:exon4:c.T390A:p.P130P;MBD1:NM_015847:exon4:c.T390A:p.P130P;MBD1:NM_001204141:exon4:c.T390A:p.P130P;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000424334:exon4:c.T468A:p.P156P;ENSG00000141644:ENST00000591535:exon3:c.T390A:p.P130P;ENSG00000141644:ENST00000398493:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000398488:exon3:c.T390A:p.P130P;ENSG00000141644:ENST00000353909:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000339998:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000591416:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000269471:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000457839:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000590208:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000347968:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000382948:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000588937:exon3:c.T390A:p.P130P;ENSG00000141644:ENST00000349085:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000436910:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000269468:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000398495:exon3:c.T390A:p.P130P;ENSG00000141644:ENST00000585672:exon4:c.T390A:p.P130P;ENSG00000141644:ENST00000587605:exon4:c.T390A:p.P130P;	0.00131357936960411	0.004
18	47803367	G	A	18	50276997	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.C227T:p.A76V;MBD1:NM_001204151:exon3:c.C227T:p.A76V;MBD1:NM_001204137:exon4:c.C227T:p.A76V;MBD1:NM_015845:exon4:c.C227T:p.A76V;MBD1:NM_001204142:exon4:c.C227T:p.A76V;MBD1:NM_001204143:exon4:c.C227T:p.A76V;MBD1:NM_001204138:exon4:c.C227T:p.A76V;MBD1:NM_015846:exon4:c.C227T:p.A76V;MBD1:NM_001204140:exon4:c.C227T:p.A76V;MBD1:NM_001204139:exon4:c.C227T:p.A76V;MBD1:NM_015844:exon4:c.C227T:p.A76V;MBD1:NM_001204136:exon4:c.C227T:p.A76V;MBD1:NM_015847:exon4:c.C227T:p.A76V;MBD1:NM_001204141:exon4:c.C227T:p.A76V;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000424334:exon4:c.C305T:p.A102V;ENSG00000141644:ENST00000591535:exon3:c.C227T:p.A76V;ENSG00000141644:ENST00000398493:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000398488:exon3:c.C227T:p.A76V;ENSG00000141644:ENST00000353909:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000339998:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000591416:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000269471:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000457839:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000590208:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000347968:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000382948:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000588937:exon3:c.C227T:p.A76V;ENSG00000141644:ENST00000349085:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000436910:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000269468:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000398495:exon3:c.C227T:p.A76V;ENSG00000141644:ENST00000585672:exon4:c.C227T:p.A76V;ENSG00000141644:ENST00000587605:exon4:c.C227T:p.A76V;	2.05492570862795E-4	0.012
18	47803367	G	C	18	50276997	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.C227G:p.A76G;MBD1:NM_001204151:exon3:c.C227G:p.A76G;MBD1:NM_001204137:exon4:c.C227G:p.A76G;MBD1:NM_015845:exon4:c.C227G:p.A76G;MBD1:NM_001204142:exon4:c.C227G:p.A76G;MBD1:NM_001204143:exon4:c.C227G:p.A76G;MBD1:NM_001204138:exon4:c.C227G:p.A76G;MBD1:NM_015846:exon4:c.C227G:p.A76G;MBD1:NM_001204140:exon4:c.C227G:p.A76G;MBD1:NM_001204139:exon4:c.C227G:p.A76G;MBD1:NM_015844:exon4:c.C227G:p.A76G;MBD1:NM_001204136:exon4:c.C227G:p.A76G;MBD1:NM_015847:exon4:c.C227G:p.A76G;MBD1:NM_001204141:exon4:c.C227G:p.A76G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000424334:exon4:c.C305G:p.A102G;ENSG00000141644:ENST00000591535:exon3:c.C227G:p.A76G;ENSG00000141644:ENST00000398493:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000398488:exon3:c.C227G:p.A76G;ENSG00000141644:ENST00000353909:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000339998:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000591416:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000269471:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000457839:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000590208:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000347968:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000382948:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000588937:exon3:c.C227G:p.A76G;ENSG00000141644:ENST00000349085:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000436910:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000269468:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000398495:exon3:c.C227G:p.A76G;ENSG00000141644:ENST00000585672:exon4:c.C227G:p.A76G;ENSG00000141644:ENST00000587605:exon4:c.C227G:p.A76G;	1.51130467429467E-4	0.026
18	47803367	G	T	18	50276997	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.C227A:p.A76D;MBD1:NM_001204151:exon3:c.C227A:p.A76D;MBD1:NM_001204137:exon4:c.C227A:p.A76D;MBD1:NM_015845:exon4:c.C227A:p.A76D;MBD1:NM_001204142:exon4:c.C227A:p.A76D;MBD1:NM_001204143:exon4:c.C227A:p.A76D;MBD1:NM_001204138:exon4:c.C227A:p.A76D;MBD1:NM_015846:exon4:c.C227A:p.A76D;MBD1:NM_001204140:exon4:c.C227A:p.A76D;MBD1:NM_001204139:exon4:c.C227A:p.A76D;MBD1:NM_015844:exon4:c.C227A:p.A76D;MBD1:NM_001204136:exon4:c.C227A:p.A76D;MBD1:NM_015847:exon4:c.C227A:p.A76D;MBD1:NM_001204141:exon4:c.C227A:p.A76D;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000424334:exon4:c.C305A:p.A102D;ENSG00000141644:ENST00000591535:exon3:c.C227A:p.A76D;ENSG00000141644:ENST00000398493:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000398488:exon3:c.C227A:p.A76D;ENSG00000141644:ENST00000353909:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000339998:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000591416:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000269471:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000457839:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000590208:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000347968:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000382948:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000588937:exon3:c.C227A:p.A76D;ENSG00000141644:ENST00000349085:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000436910:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000269468:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000398495:exon3:c.C227A:p.A76D;ENSG00000141644:ENST00000585672:exon4:c.C227A:p.A76D;ENSG00000141644:ENST00000587605:exon4:c.C227A:p.A76D;	1.90372362781104E-4	0.002
18	47803368	C	A	18	50276998	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G226T:p.A76S;MBD1:NM_001204151:exon3:c.G226T:p.A76S;MBD1:NM_001204137:exon4:c.G226T:p.A76S;MBD1:NM_015845:exon4:c.G226T:p.A76S;MBD1:NM_001204142:exon4:c.G226T:p.A76S;MBD1:NM_001204143:exon4:c.G226T:p.A76S;MBD1:NM_001204138:exon4:c.G226T:p.A76S;MBD1:NM_015846:exon4:c.G226T:p.A76S;MBD1:NM_001204140:exon4:c.G226T:p.A76S;MBD1:NM_001204139:exon4:c.G226T:p.A76S;MBD1:NM_015844:exon4:c.G226T:p.A76S;MBD1:NM_001204136:exon4:c.G226T:p.A76S;MBD1:NM_015847:exon4:c.G226T:p.A76S;MBD1:NM_001204141:exon4:c.G226T:p.A76S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000424334:exon4:c.G304T:p.A102S;ENSG00000141644:ENST00000591535:exon3:c.G226T:p.A76S;ENSG00000141644:ENST00000398493:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000398488:exon3:c.G226T:p.A76S;ENSG00000141644:ENST00000353909:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000339998:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000591416:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000269471:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000457839:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000590208:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000347968:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000382948:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000588937:exon3:c.G226T:p.A76S;ENSG00000141644:ENST00000349085:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000436910:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000269468:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000398495:exon3:c.G226T:p.A76S;ENSG00000141644:ENST00000585672:exon4:c.G226T:p.A76S;ENSG00000141644:ENST00000587605:exon4:c.G226T:p.A76S;	0.0616595381936231	0.398
18	47803368	C	G	18	50276998	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G226C:p.A76P;MBD1:NM_001204151:exon3:c.G226C:p.A76P;MBD1:NM_001204137:exon4:c.G226C:p.A76P;MBD1:NM_015845:exon4:c.G226C:p.A76P;MBD1:NM_001204142:exon4:c.G226C:p.A76P;MBD1:NM_001204143:exon4:c.G226C:p.A76P;MBD1:NM_001204138:exon4:c.G226C:p.A76P;MBD1:NM_015846:exon4:c.G226C:p.A76P;MBD1:NM_001204140:exon4:c.G226C:p.A76P;MBD1:NM_001204139:exon4:c.G226C:p.A76P;MBD1:NM_015844:exon4:c.G226C:p.A76P;MBD1:NM_001204136:exon4:c.G226C:p.A76P;MBD1:NM_015847:exon4:c.G226C:p.A76P;MBD1:NM_001204141:exon4:c.G226C:p.A76P;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000424334:exon4:c.G304C:p.A102P;ENSG00000141644:ENST00000591535:exon3:c.G226C:p.A76P;ENSG00000141644:ENST00000398493:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000398488:exon3:c.G226C:p.A76P;ENSG00000141644:ENST00000353909:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000339998:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000591416:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000269471:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000457839:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000590208:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000347968:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000382948:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000588937:exon3:c.G226C:p.A76P;ENSG00000141644:ENST00000349085:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000436910:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000269468:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000398495:exon3:c.G226C:p.A76P;ENSG00000141644:ENST00000585672:exon4:c.G226C:p.A76P;ENSG00000141644:ENST00000587605:exon4:c.G226C:p.A76P;	0.00698217833410763	0.124
18	47803368	C	T	18	50276998	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon4:c.G226A:p.A76T;MBD1:NM_001204151:exon3:c.G226A:p.A76T;MBD1:NM_001204137:exon4:c.G226A:p.A76T;MBD1:NM_015845:exon4:c.G226A:p.A76T;MBD1:NM_001204142:exon4:c.G226A:p.A76T;MBD1:NM_001204143:exon4:c.G226A:p.A76T;MBD1:NM_001204138:exon4:c.G226A:p.A76T;MBD1:NM_015846:exon4:c.G226A:p.A76T;MBD1:NM_001204140:exon4:c.G226A:p.A76T;MBD1:NM_001204139:exon4:c.G226A:p.A76T;MBD1:NM_015844:exon4:c.G226A:p.A76T;MBD1:NM_001204136:exon4:c.G226A:p.A76T;MBD1:NM_015847:exon4:c.G226A:p.A76T;MBD1:NM_001204141:exon4:c.G226A:p.A76T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000424334:exon4:c.G304A:p.A102T;ENSG00000141644:ENST00000591535:exon3:c.G226A:p.A76T;ENSG00000141644:ENST00000398493:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000398488:exon3:c.G226A:p.A76T;ENSG00000141644:ENST00000353909:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000339998:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000591416:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000269471:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000457839:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000590208:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000347968:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000382948:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000588937:exon3:c.G226A:p.A76T;ENSG00000141644:ENST00000349085:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000436910:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000269468:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000398495:exon3:c.G226A:p.A76T;ENSG00000141644:ENST00000585672:exon4:c.G226A:p.A76T;ENSG00000141644:ENST00000587605:exon4:c.G226A:p.A76T;	4.63087348529655E-4	0.054
18	47803369	C	A	18	50276999	y	y	splicing	MBD1(NM_001204139:exon5:c.226-1G>T;NM_001204141:exon5:c.226-1G>T;NM_002384:exon5:c.226-1G>T;NM_015847:exon5:c.226-1G>T;NM_015846:exon5:c.226-1G>T;NM_015845:exon5:c.226-1G>T;NM_001204136:exon5:c.226-1G>T;NM_015844:exon5:c.226-1G>T;NM_001204143:exon5:c.226-1G>T;NM_001204142:exon5:c.226-1G>T;NM_001204140:exon5:c.226-1G>T;NM_001204138:exon5:c.226-1G>T;NM_001204137:exon5:c.226-1G>T;NM_001204151:exon4:c.226-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.226-1G>T;ENST00000382948:exon5:c.226-1G>T;ENST00000353909:exon5:c.226-1G>T;ENST00000591416:exon5:c.226-1G>T;ENST00000349085:exon5:c.226-1G>T;ENST00000436910:exon5:c.226-1G>T;ENST00000347968:exon5:c.226-1G>T;ENST00000269468:exon5:c.226-1G>T;ENST00000269471:exon5:c.226-1G>T;ENST00000339998:exon5:c.226-1G>T;ENST00000590208:exon5:c.226-1G>T;ENST00000587605:exon5:c.226-1G>T;ENST00000588937:exon4:c.226-1G>T;ENST00000424334:exon5:c.304-1G>T;ENST00000585595:exon5:c.226-1G>T;ENST00000398495:exon4:c.226-1G>T;ENST00000457839:exon5:c.226-1G>T;ENST00000398493:exon5:c.226-1G>T;ENST00000591535:exon4:c.226-1G>T;ENST00000398488:exon4:c.226-1G>T;ENST00000590215:exon5:c.218-1G>T)	.	.	0.999987205282477	0.764
18	47803369	C	G	18	50276999	y	y	splicing	MBD1(NM_001204139:exon5:c.226-1G>C;NM_001204141:exon5:c.226-1G>C;NM_002384:exon5:c.226-1G>C;NM_015847:exon5:c.226-1G>C;NM_015846:exon5:c.226-1G>C;NM_015845:exon5:c.226-1G>C;NM_001204136:exon5:c.226-1G>C;NM_015844:exon5:c.226-1G>C;NM_001204143:exon5:c.226-1G>C;NM_001204142:exon5:c.226-1G>C;NM_001204140:exon5:c.226-1G>C;NM_001204138:exon5:c.226-1G>C;NM_001204137:exon5:c.226-1G>C;NM_001204151:exon4:c.226-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.226-1G>C;ENST00000382948:exon5:c.226-1G>C;ENST00000353909:exon5:c.226-1G>C;ENST00000591416:exon5:c.226-1G>C;ENST00000349085:exon5:c.226-1G>C;ENST00000436910:exon5:c.226-1G>C;ENST00000347968:exon5:c.226-1G>C;ENST00000269468:exon5:c.226-1G>C;ENST00000269471:exon5:c.226-1G>C;ENST00000339998:exon5:c.226-1G>C;ENST00000590208:exon5:c.226-1G>C;ENST00000587605:exon5:c.226-1G>C;ENST00000588937:exon4:c.226-1G>C;ENST00000424334:exon5:c.304-1G>C;ENST00000585595:exon5:c.226-1G>C;ENST00000398495:exon4:c.226-1G>C;ENST00000457839:exon5:c.226-1G>C;ENST00000398493:exon5:c.226-1G>C;ENST00000591535:exon4:c.226-1G>C;ENST00000398488:exon4:c.226-1G>C;ENST00000590215:exon5:c.218-1G>C)	.	.	0.999987205282477	0.774
18	47803369	C	T	18	50276999	y	y	splicing	MBD1(NM_001204139:exon5:c.226-1G>A;NM_001204141:exon5:c.226-1G>A;NM_002384:exon5:c.226-1G>A;NM_015847:exon5:c.226-1G>A;NM_015846:exon5:c.226-1G>A;NM_015845:exon5:c.226-1G>A;NM_001204136:exon5:c.226-1G>A;NM_015844:exon5:c.226-1G>A;NM_001204143:exon5:c.226-1G>A;NM_001204142:exon5:c.226-1G>A;NM_001204140:exon5:c.226-1G>A;NM_001204138:exon5:c.226-1G>A;NM_001204137:exon5:c.226-1G>A;NM_001204151:exon4:c.226-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.226-1G>A;ENST00000382948:exon5:c.226-1G>A;ENST00000353909:exon5:c.226-1G>A;ENST00000591416:exon5:c.226-1G>A;ENST00000349085:exon5:c.226-1G>A;ENST00000436910:exon5:c.226-1G>A;ENST00000347968:exon5:c.226-1G>A;ENST00000269468:exon5:c.226-1G>A;ENST00000269471:exon5:c.226-1G>A;ENST00000339998:exon5:c.226-1G>A;ENST00000590208:exon5:c.226-1G>A;ENST00000587605:exon5:c.226-1G>A;ENST00000588937:exon4:c.226-1G>A;ENST00000424334:exon5:c.304-1G>A;ENST00000585595:exon5:c.226-1G>A;ENST00000398495:exon4:c.226-1G>A;ENST00000457839:exon5:c.226-1G>A;ENST00000398493:exon5:c.226-1G>A;ENST00000591535:exon4:c.226-1G>A;ENST00000398488:exon4:c.226-1G>A;ENST00000590215:exon5:c.218-1G>A)	.	.	0.999983806599646	0.762
18	47803370	T	A	18	50277000	y	y	splicing	MBD1(NM_001204139:exon5:c.226-2A>T;NM_001204141:exon5:c.226-2A>T;NM_002384:exon5:c.226-2A>T;NM_015847:exon5:c.226-2A>T;NM_015846:exon5:c.226-2A>T;NM_015845:exon5:c.226-2A>T;NM_001204136:exon5:c.226-2A>T;NM_015844:exon5:c.226-2A>T;NM_001204143:exon5:c.226-2A>T;NM_001204142:exon5:c.226-2A>T;NM_001204140:exon5:c.226-2A>T;NM_001204138:exon5:c.226-2A>T;NM_001204137:exon5:c.226-2A>T;NM_001204151:exon4:c.226-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.226-2A>T;ENST00000382948:exon5:c.226-2A>T;ENST00000353909:exon5:c.226-2A>T;ENST00000591416:exon5:c.226-2A>T;ENST00000349085:exon5:c.226-2A>T;ENST00000436910:exon5:c.226-2A>T;ENST00000347968:exon5:c.226-2A>T;ENST00000269468:exon5:c.226-2A>T;ENST00000269471:exon5:c.226-2A>T;ENST00000339998:exon5:c.226-2A>T;ENST00000590208:exon5:c.226-2A>T;ENST00000587605:exon5:c.226-2A>T;ENST00000588937:exon4:c.226-2A>T;ENST00000424334:exon5:c.304-2A>T;ENST00000585595:exon5:c.226-2A>T;ENST00000398495:exon4:c.226-2A>T;ENST00000457839:exon5:c.226-2A>T;ENST00000398493:exon5:c.226-2A>T;ENST00000591535:exon4:c.226-2A>T;ENST00000398488:exon4:c.226-2A>T;ENST00000590215:exon5:c.218-2A>T)	.	.	0.999980255680118	0.742
18	47803370	T	C	18	50277000	y	y	splicing	MBD1(NM_001204139:exon5:c.226-2A>G;NM_001204141:exon5:c.226-2A>G;NM_002384:exon5:c.226-2A>G;NM_015847:exon5:c.226-2A>G;NM_015846:exon5:c.226-2A>G;NM_015845:exon5:c.226-2A>G;NM_001204136:exon5:c.226-2A>G;NM_015844:exon5:c.226-2A>G;NM_001204143:exon5:c.226-2A>G;NM_001204142:exon5:c.226-2A>G;NM_001204140:exon5:c.226-2A>G;NM_001204138:exon5:c.226-2A>G;NM_001204137:exon5:c.226-2A>G;NM_001204151:exon4:c.226-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.226-2A>G;ENST00000382948:exon5:c.226-2A>G;ENST00000353909:exon5:c.226-2A>G;ENST00000591416:exon5:c.226-2A>G;ENST00000349085:exon5:c.226-2A>G;ENST00000436910:exon5:c.226-2A>G;ENST00000347968:exon5:c.226-2A>G;ENST00000269468:exon5:c.226-2A>G;ENST00000269471:exon5:c.226-2A>G;ENST00000339998:exon5:c.226-2A>G;ENST00000590208:exon5:c.226-2A>G;ENST00000587605:exon5:c.226-2A>G;ENST00000588937:exon4:c.226-2A>G;ENST00000424334:exon5:c.304-2A>G;ENST00000585595:exon5:c.226-2A>G;ENST00000398495:exon4:c.226-2A>G;ENST00000457839:exon5:c.226-2A>G;ENST00000398493:exon5:c.226-2A>G;ENST00000591535:exon4:c.226-2A>G;ENST00000398488:exon4:c.226-2A>G;ENST00000590215:exon5:c.218-2A>G)	.	.	0.999984399620937	0.752
18	47803370	T	G	18	50277000	y	y	splicing	MBD1(NM_001204139:exon5:c.226-2A>C;NM_001204141:exon5:c.226-2A>C;NM_002384:exon5:c.226-2A>C;NM_015847:exon5:c.226-2A>C;NM_015846:exon5:c.226-2A>C;NM_015845:exon5:c.226-2A>C;NM_001204136:exon5:c.226-2A>C;NM_015844:exon5:c.226-2A>C;NM_001204143:exon5:c.226-2A>C;NM_001204142:exon5:c.226-2A>C;NM_001204140:exon5:c.226-2A>C;NM_001204138:exon5:c.226-2A>C;NM_001204137:exon5:c.226-2A>C;NM_001204151:exon4:c.226-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon5:c.226-2A>C;ENST00000382948:exon5:c.226-2A>C;ENST00000353909:exon5:c.226-2A>C;ENST00000591416:exon5:c.226-2A>C;ENST00000349085:exon5:c.226-2A>C;ENST00000436910:exon5:c.226-2A>C;ENST00000347968:exon5:c.226-2A>C;ENST00000269468:exon5:c.226-2A>C;ENST00000269471:exon5:c.226-2A>C;ENST00000339998:exon5:c.226-2A>C;ENST00000590208:exon5:c.226-2A>C;ENST00000587605:exon5:c.226-2A>C;ENST00000588937:exon4:c.226-2A>C;ENST00000424334:exon5:c.304-2A>C;ENST00000585595:exon5:c.226-2A>C;ENST00000398495:exon4:c.226-2A>C;ENST00000457839:exon5:c.226-2A>C;ENST00000398493:exon5:c.226-2A>C;ENST00000591535:exon4:c.226-2A>C;ENST00000398488:exon4:c.226-2A>C;ENST00000590215:exon5:c.218-2A>C)	.	.	0.999984399620937	0.752
18	47803371	G	A	18	50277001	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.66198237664866E-4	0.084
18	47803371	G	C	18	50277001	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.953905750388002	0.86
18	47803371	G	T	18	50277001	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0479921639251965	0.408
18	47803372	G	A	18	50277002	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.58163281143018E-5	0.014
18	47803372	G	C	18	50277002	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.5376743960889E-5	0.042
18	47803372	G	T	18	50277002	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.58163281143018E-5	0.008
18	47803373	A	C	18	50277003	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0299987619643948	0.426
18	47803373	A	G	18	50277003	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00106719097928021	0.094
18	47803373	A	T	18	50277003	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0455271278469819	0.446
18	47803374	A	C	18	50277004	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.12454179431239E-4	0.068
18	47803374	A	G	18	50277004	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.46137549693079E-5	0.004
18	47803374	A	T	18	50277004	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.39306451803823E-4	0.022
18	47803375	A	C	18	50277005	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.54862746776416E-5	0.052
18	47803375	A	G	18	50277005	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.25165569408026E-5	0.016
18	47803375	A	T	18	50277005	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.98253424503568E-5	0.054
18	47803376	G	A	18	50277006	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.01262112461475E-5	0.044
18	47803376	G	C	18	50277006	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.995909079764803	0.736
18	47803376	G	T	18	50277006	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.08926061464043E-5	0.07
18	47803377	T	A	18	50277007	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.98434406081422E-6	0.004
18	47803377	T	C	18	50277007	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.25783183751833E-6	0.0
18	47803377	T	G	18	50277007	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.18910560734567E-6	0.004
18	47803378	A	C	18	50277008	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.21275012031128E-5	0.05
18	47803378	A	G	18	50277008	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.35838699818956E-5	0.0
18	47803378	A	T	18	50277008	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.70637286775522E-5	0.034
18	47803379	A	C	18	50277009	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00550214354422091	0.374
18	47803379	A	G	18	50277009	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00288908736626747	0.184
18	47803379	A	T	18	50277009	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00445851809049333	0.384
18	47803380	G	A	18	50277010	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.59820033707852E-6	0.012
18	47803380	G	C	18	50277010	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.96049862975002E-5	0.004
18	47803380	G	T	18	50277010	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.14685315098747E-5	0.008
18	47803452	T	A	18	50277082	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.5123397786408E-4	0.01
18	47803452	T	C	18	50277082	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.73248419936922E-5	0.028
18	47803452	T	G	18	50277082	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.3461156156349E-4	0.01
18	47803453	G	A	18	50277083	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.88241549368075E-5	0.004
18	47803453	G	C	18	50277083	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.08658219293264E-5	0.018
18	47803453	G	T	18	50277083	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.73525087666576E-5	0.0
18	47803454	A	C	18	50277084	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.61102658027179E-4	0.288
18	47803454	A	G	18	50277084	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00430245477839384	0.368
18	47803454	A	T	18	50277084	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0174718925273314	0.266
18	47803455	A	C	18	50277085	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.94918864040531E-4	0.028
18	47803455	A	G	18	50277085	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0031413562362399	0.06
18	47803455	A	T	18	50277085	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0026004154525695	0.052
18	47803456	G	A	18	50277086	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.101151464902591	0.218
18	47803456	G	C	18	50277086	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.166746903758729	0.29
18	47803456	G	T	18	50277086	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.07110472366002E-4	0.048
18	47803457	T	A	18	50277087	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.992863451699918	0.922
18	47803457	T	C	18	50277087	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.994585131682442	0.854
18	47803457	T	G	18	50277087	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999868786793359	0.968
18	47803458	A	C	18	50277088	y	y	splicing	MBD1(NM_001204139:exon4:c.225+2T>G;NM_001204141:exon4:c.225+2T>G;NM_002384:exon4:c.225+2T>G;NM_015847:exon4:c.225+2T>G;NM_015846:exon4:c.225+2T>G;NM_015845:exon4:c.225+2T>G;NM_001204136:exon4:c.225+2T>G;NM_015844:exon4:c.225+2T>G;NM_001204143:exon4:c.225+2T>G;NM_001204142:exon4:c.225+2T>G;NM_001204140:exon4:c.225+2T>G;NM_001204138:exon4:c.225+2T>G;NM_001204137:exon4:c.225+2T>G;NM_001204151:exon3:c.225+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.225+2T>G;ENST00000382948:exon4:c.225+2T>G;ENST00000353909:exon4:c.225+2T>G;ENST00000591416:exon4:c.225+2T>G;ENST00000349085:exon4:c.225+2T>G;ENST00000436910:exon4:c.225+2T>G;ENST00000347968:exon4:c.225+2T>G;ENST00000269468:exon4:c.225+2T>G;ENST00000269471:exon4:c.225+2T>G;ENST00000339998:exon4:c.225+2T>G;ENST00000590208:exon4:c.225+2T>G;ENST00000587605:exon4:c.225+2T>G;ENST00000588937:exon3:c.225+2T>G;ENST00000424334:exon4:c.303+2T>G;ENST00000585595:exon4:c.225+2T>G;ENST00000398495:exon3:c.225+2T>G;ENST00000457839:exon4:c.225+2T>G;ENST00000398493:exon4:c.225+2T>G;ENST00000591535:exon3:c.225+2T>G;ENST00000398488:exon3:c.225+2T>G;ENST00000590215:exon4:c.217+2T>G)	.	.	0.999988247793601	0.92
18	47803458	A	G	18	50277088	y	y	splicing	MBD1(NM_001204139:exon4:c.225+2T>C;NM_001204141:exon4:c.225+2T>C;NM_002384:exon4:c.225+2T>C;NM_015847:exon4:c.225+2T>C;NM_015846:exon4:c.225+2T>C;NM_015845:exon4:c.225+2T>C;NM_001204136:exon4:c.225+2T>C;NM_015844:exon4:c.225+2T>C;NM_001204143:exon4:c.225+2T>C;NM_001204142:exon4:c.225+2T>C;NM_001204140:exon4:c.225+2T>C;NM_001204138:exon4:c.225+2T>C;NM_001204137:exon4:c.225+2T>C;NM_001204151:exon3:c.225+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.225+2T>C;ENST00000382948:exon4:c.225+2T>C;ENST00000353909:exon4:c.225+2T>C;ENST00000591416:exon4:c.225+2T>C;ENST00000349085:exon4:c.225+2T>C;ENST00000436910:exon4:c.225+2T>C;ENST00000347968:exon4:c.225+2T>C;ENST00000269468:exon4:c.225+2T>C;ENST00000269471:exon4:c.225+2T>C;ENST00000339998:exon4:c.225+2T>C;ENST00000590208:exon4:c.225+2T>C;ENST00000587605:exon4:c.225+2T>C;ENST00000588937:exon3:c.225+2T>C;ENST00000424334:exon4:c.303+2T>C;ENST00000585595:exon4:c.225+2T>C;ENST00000398495:exon3:c.225+2T>C;ENST00000457839:exon4:c.225+2T>C;ENST00000398493:exon4:c.225+2T>C;ENST00000591535:exon3:c.225+2T>C;ENST00000398488:exon3:c.225+2T>C;ENST00000590215:exon4:c.217+2T>C)	.	.	0.988163425542712	0.608
18	47803458	A	T	18	50277088	y	y	splicing	MBD1(NM_001204139:exon4:c.225+2T>A;NM_001204141:exon4:c.225+2T>A;NM_002384:exon4:c.225+2T>A;NM_015847:exon4:c.225+2T>A;NM_015846:exon4:c.225+2T>A;NM_015845:exon4:c.225+2T>A;NM_001204136:exon4:c.225+2T>A;NM_015844:exon4:c.225+2T>A;NM_001204143:exon4:c.225+2T>A;NM_001204142:exon4:c.225+2T>A;NM_001204140:exon4:c.225+2T>A;NM_001204138:exon4:c.225+2T>A;NM_001204137:exon4:c.225+2T>A;NM_001204151:exon3:c.225+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.225+2T>A;ENST00000382948:exon4:c.225+2T>A;ENST00000353909:exon4:c.225+2T>A;ENST00000591416:exon4:c.225+2T>A;ENST00000349085:exon4:c.225+2T>A;ENST00000436910:exon4:c.225+2T>A;ENST00000347968:exon4:c.225+2T>A;ENST00000269468:exon4:c.225+2T>A;ENST00000269471:exon4:c.225+2T>A;ENST00000339998:exon4:c.225+2T>A;ENST00000590208:exon4:c.225+2T>A;ENST00000587605:exon4:c.225+2T>A;ENST00000588937:exon3:c.225+2T>A;ENST00000424334:exon4:c.303+2T>A;ENST00000585595:exon4:c.225+2T>A;ENST00000398495:exon3:c.225+2T>A;ENST00000457839:exon4:c.225+2T>A;ENST00000398493:exon4:c.225+2T>A;ENST00000591535:exon3:c.225+2T>A;ENST00000398488:exon3:c.225+2T>A;ENST00000590215:exon4:c.217+2T>A)	.	.	0.999988247793601	0.922
18	47803459	C	A	18	50277089	y	y	splicing	MBD1(NM_001204139:exon4:c.225+1G>T;NM_001204141:exon4:c.225+1G>T;NM_002384:exon4:c.225+1G>T;NM_015847:exon4:c.225+1G>T;NM_015846:exon4:c.225+1G>T;NM_015845:exon4:c.225+1G>T;NM_001204136:exon4:c.225+1G>T;NM_015844:exon4:c.225+1G>T;NM_001204143:exon4:c.225+1G>T;NM_001204142:exon4:c.225+1G>T;NM_001204140:exon4:c.225+1G>T;NM_001204138:exon4:c.225+1G>T;NM_001204137:exon4:c.225+1G>T;NM_001204151:exon3:c.225+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.225+1G>T;ENST00000382948:exon4:c.225+1G>T;ENST00000353909:exon4:c.225+1G>T;ENST00000591416:exon4:c.225+1G>T;ENST00000349085:exon4:c.225+1G>T;ENST00000436910:exon4:c.225+1G>T;ENST00000347968:exon4:c.225+1G>T;ENST00000269468:exon4:c.225+1G>T;ENST00000269471:exon4:c.225+1G>T;ENST00000339998:exon4:c.225+1G>T;ENST00000590208:exon4:c.225+1G>T;ENST00000587605:exon4:c.225+1G>T;ENST00000588937:exon3:c.225+1G>T;ENST00000424334:exon4:c.303+1G>T;ENST00000585595:exon4:c.225+1G>T;ENST00000398495:exon3:c.225+1G>T;ENST00000457839:exon4:c.225+1G>T;ENST00000398493:exon4:c.225+1G>T;ENST00000591535:exon3:c.225+1G>T;ENST00000398488:exon3:c.225+1G>T;ENST00000590215:exon4:c.217+1G>T)	.	.	0.999981760802075	0.934
18	47803459	C	G	18	50277089	y	y	splicing	MBD1(NM_001204139:exon4:c.225+1G>C;NM_001204141:exon4:c.225+1G>C;NM_002384:exon4:c.225+1G>C;NM_015847:exon4:c.225+1G>C;NM_015846:exon4:c.225+1G>C;NM_015845:exon4:c.225+1G>C;NM_001204136:exon4:c.225+1G>C;NM_015844:exon4:c.225+1G>C;NM_001204143:exon4:c.225+1G>C;NM_001204142:exon4:c.225+1G>C;NM_001204140:exon4:c.225+1G>C;NM_001204138:exon4:c.225+1G>C;NM_001204137:exon4:c.225+1G>C;NM_001204151:exon3:c.225+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.225+1G>C;ENST00000382948:exon4:c.225+1G>C;ENST00000353909:exon4:c.225+1G>C;ENST00000591416:exon4:c.225+1G>C;ENST00000349085:exon4:c.225+1G>C;ENST00000436910:exon4:c.225+1G>C;ENST00000347968:exon4:c.225+1G>C;ENST00000269468:exon4:c.225+1G>C;ENST00000269471:exon4:c.225+1G>C;ENST00000339998:exon4:c.225+1G>C;ENST00000590208:exon4:c.225+1G>C;ENST00000587605:exon4:c.225+1G>C;ENST00000588937:exon3:c.225+1G>C;ENST00000424334:exon4:c.303+1G>C;ENST00000585595:exon4:c.225+1G>C;ENST00000398495:exon3:c.225+1G>C;ENST00000457839:exon4:c.225+1G>C;ENST00000398493:exon4:c.225+1G>C;ENST00000591535:exon3:c.225+1G>C;ENST00000398488:exon3:c.225+1G>C;ENST00000590215:exon4:c.217+1G>C)	.	.	0.999981760802075	0.934
18	47803459	C	T	18	50277089	y	y	splicing	MBD1(NM_001204139:exon4:c.225+1G>A;NM_001204141:exon4:c.225+1G>A;NM_002384:exon4:c.225+1G>A;NM_015847:exon4:c.225+1G>A;NM_015846:exon4:c.225+1G>A;NM_015845:exon4:c.225+1G>A;NM_001204136:exon4:c.225+1G>A;NM_015844:exon4:c.225+1G>A;NM_001204143:exon4:c.225+1G>A;NM_001204142:exon4:c.225+1G>A;NM_001204140:exon4:c.225+1G>A;NM_001204138:exon4:c.225+1G>A;NM_001204137:exon4:c.225+1G>A;NM_001204151:exon3:c.225+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.225+1G>A;ENST00000382948:exon4:c.225+1G>A;ENST00000353909:exon4:c.225+1G>A;ENST00000591416:exon4:c.225+1G>A;ENST00000349085:exon4:c.225+1G>A;ENST00000436910:exon4:c.225+1G>A;ENST00000347968:exon4:c.225+1G>A;ENST00000269468:exon4:c.225+1G>A;ENST00000269471:exon4:c.225+1G>A;ENST00000339998:exon4:c.225+1G>A;ENST00000590208:exon4:c.225+1G>A;ENST00000587605:exon4:c.225+1G>A;ENST00000588937:exon3:c.225+1G>A;ENST00000424334:exon4:c.303+1G>A;ENST00000585595:exon4:c.225+1G>A;ENST00000398495:exon3:c.225+1G>A;ENST00000457839:exon4:c.225+1G>A;ENST00000398493:exon4:c.225+1G>A;ENST00000591535:exon3:c.225+1G>A;ENST00000398488:exon3:c.225+1G>A;ENST00000590215:exon4:c.217+1G>A)	.	.	0.999981760802075	0.934
18	47803460	C	A	18	50277090	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.G225T:p.K75N;MBD1:NM_001204151:exon2:c.G225T:p.K75N;MBD1:NM_001204137:exon3:c.G225T:p.K75N;MBD1:NM_015845:exon3:c.G225T:p.K75N;MBD1:NM_001204142:exon3:c.G225T:p.K75N;MBD1:NM_001204143:exon3:c.G225T:p.K75N;MBD1:NM_001204138:exon3:c.G225T:p.K75N;MBD1:NM_015846:exon3:c.G225T:p.K75N;MBD1:NM_001204140:exon3:c.G225T:p.K75N;MBD1:NM_001204139:exon3:c.G225T:p.K75N;MBD1:NM_015844:exon3:c.G225T:p.K75N;MBD1:NM_001204136:exon3:c.G225T:p.K75N;MBD1:NM_015847:exon3:c.G225T:p.K75N;MBD1:NM_001204141:exon3:c.G225T:p.K75N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000424334:exon3:c.G303T:p.K101N;ENSG00000141644:ENST00000591535:exon2:c.G225T:p.K75N;ENSG00000141644:ENST00000398493:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000398488:exon2:c.G225T:p.K75N;ENSG00000141644:ENST00000353909:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000339998:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000591416:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000269471:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000457839:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000590208:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000347968:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000382948:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000588937:exon2:c.G225T:p.K75N;ENSG00000141644:ENST00000349085:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000436910:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000269468:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000398495:exon2:c.G225T:p.K75N;ENSG00000141644:ENST00000585672:exon3:c.G225T:p.K75N;ENSG00000141644:ENST00000587605:exon3:c.G225T:p.K75N;	0.999992960846033	1.0
18	47803460	C	G	18	50277090	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.G225C:p.K75N;MBD1:NM_001204151:exon2:c.G225C:p.K75N;MBD1:NM_001204137:exon3:c.G225C:p.K75N;MBD1:NM_015845:exon3:c.G225C:p.K75N;MBD1:NM_001204142:exon3:c.G225C:p.K75N;MBD1:NM_001204143:exon3:c.G225C:p.K75N;MBD1:NM_001204138:exon3:c.G225C:p.K75N;MBD1:NM_015846:exon3:c.G225C:p.K75N;MBD1:NM_001204140:exon3:c.G225C:p.K75N;MBD1:NM_001204139:exon3:c.G225C:p.K75N;MBD1:NM_015844:exon3:c.G225C:p.K75N;MBD1:NM_001204136:exon3:c.G225C:p.K75N;MBD1:NM_015847:exon3:c.G225C:p.K75N;MBD1:NM_001204141:exon3:c.G225C:p.K75N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000424334:exon3:c.G303C:p.K101N;ENSG00000141644:ENST00000591535:exon2:c.G225C:p.K75N;ENSG00000141644:ENST00000398493:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000398488:exon2:c.G225C:p.K75N;ENSG00000141644:ENST00000353909:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000339998:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000591416:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000269471:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000457839:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000590208:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000347968:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000382948:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000588937:exon2:c.G225C:p.K75N;ENSG00000141644:ENST00000349085:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000436910:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000269468:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000398495:exon2:c.G225C:p.K75N;ENSG00000141644:ENST00000585672:exon3:c.G225C:p.K75N;ENSG00000141644:ENST00000587605:exon3:c.G225C:p.K75N;	0.999992583175878	1.0
18	47803460	C	T	18	50277090	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon3:c.G225A:p.K75K;MBD1:NM_001204151:exon2:c.G225A:p.K75K;MBD1:NM_001204137:exon3:c.G225A:p.K75K;MBD1:NM_015845:exon3:c.G225A:p.K75K;MBD1:NM_001204142:exon3:c.G225A:p.K75K;MBD1:NM_001204143:exon3:c.G225A:p.K75K;MBD1:NM_001204138:exon3:c.G225A:p.K75K;MBD1:NM_015846:exon3:c.G225A:p.K75K;MBD1:NM_001204140:exon3:c.G225A:p.K75K;MBD1:NM_001204139:exon3:c.G225A:p.K75K;MBD1:NM_015844:exon3:c.G225A:p.K75K;MBD1:NM_001204136:exon3:c.G225A:p.K75K;MBD1:NM_015847:exon3:c.G225A:p.K75K;MBD1:NM_001204141:exon3:c.G225A:p.K75K;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000424334:exon3:c.G303A:p.K101K;ENSG00000141644:ENST00000591535:exon2:c.G225A:p.K75K;ENSG00000141644:ENST00000398493:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000398488:exon2:c.G225A:p.K75K;ENSG00000141644:ENST00000353909:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000339998:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000591416:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000269471:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000457839:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000590208:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000347968:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000382948:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000588937:exon2:c.G225A:p.K75K;ENSG00000141644:ENST00000349085:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000436910:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000269468:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000398495:exon2:c.G225A:p.K75K;ENSG00000141644:ENST00000585672:exon3:c.G225A:p.K75K;ENSG00000141644:ENST00000587605:exon3:c.G225A:p.K75K;	0.999958550629243	1.0
18	47803461	T	A	18	50277091	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.A224T:p.K75M;MBD1:NM_001204151:exon2:c.A224T:p.K75M;MBD1:NM_001204137:exon3:c.A224T:p.K75M;MBD1:NM_015845:exon3:c.A224T:p.K75M;MBD1:NM_001204142:exon3:c.A224T:p.K75M;MBD1:NM_001204143:exon3:c.A224T:p.K75M;MBD1:NM_001204138:exon3:c.A224T:p.K75M;MBD1:NM_015846:exon3:c.A224T:p.K75M;MBD1:NM_001204140:exon3:c.A224T:p.K75M;MBD1:NM_001204139:exon3:c.A224T:p.K75M;MBD1:NM_015844:exon3:c.A224T:p.K75M;MBD1:NM_001204136:exon3:c.A224T:p.K75M;MBD1:NM_015847:exon3:c.A224T:p.K75M;MBD1:NM_001204141:exon3:c.A224T:p.K75M;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000424334:exon3:c.A302T:p.K101M;ENSG00000141644:ENST00000591535:exon2:c.A224T:p.K75M;ENSG00000141644:ENST00000398493:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000398488:exon2:c.A224T:p.K75M;ENSG00000141644:ENST00000353909:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000339998:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000591416:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000269471:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000457839:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000590208:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000347968:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000382948:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000588937:exon2:c.A224T:p.K75M;ENSG00000141644:ENST00000349085:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000436910:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000269468:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000398495:exon2:c.A224T:p.K75M;ENSG00000141644:ENST00000585672:exon3:c.A224T:p.K75M;ENSG00000141644:ENST00000587605:exon3:c.A224T:p.K75M;	0.99992909526633	1.0
18	47803461	T	C	18	50277091	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.A224G:p.K75R;MBD1:NM_001204151:exon2:c.A224G:p.K75R;MBD1:NM_001204137:exon3:c.A224G:p.K75R;MBD1:NM_015845:exon3:c.A224G:p.K75R;MBD1:NM_001204142:exon3:c.A224G:p.K75R;MBD1:NM_001204143:exon3:c.A224G:p.K75R;MBD1:NM_001204138:exon3:c.A224G:p.K75R;MBD1:NM_015846:exon3:c.A224G:p.K75R;MBD1:NM_001204140:exon3:c.A224G:p.K75R;MBD1:NM_001204139:exon3:c.A224G:p.K75R;MBD1:NM_015844:exon3:c.A224G:p.K75R;MBD1:NM_001204136:exon3:c.A224G:p.K75R;MBD1:NM_015847:exon3:c.A224G:p.K75R;MBD1:NM_001204141:exon3:c.A224G:p.K75R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000424334:exon3:c.A302G:p.K101R;ENSG00000141644:ENST00000591535:exon2:c.A224G:p.K75R;ENSG00000141644:ENST00000398493:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000398488:exon2:c.A224G:p.K75R;ENSG00000141644:ENST00000353909:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000339998:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000591416:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000269471:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000457839:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000590208:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000347968:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000382948:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000588937:exon2:c.A224G:p.K75R;ENSG00000141644:ENST00000349085:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000436910:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000269468:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000398495:exon2:c.A224G:p.K75R;ENSG00000141644:ENST00000585672:exon3:c.A224G:p.K75R;ENSG00000141644:ENST00000587605:exon3:c.A224G:p.K75R;	0.999932977807903	0.998
18	47803461	T	G	18	50277091	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.A224C:p.K75T;MBD1:NM_001204151:exon2:c.A224C:p.K75T;MBD1:NM_001204137:exon3:c.A224C:p.K75T;MBD1:NM_015845:exon3:c.A224C:p.K75T;MBD1:NM_001204142:exon3:c.A224C:p.K75T;MBD1:NM_001204143:exon3:c.A224C:p.K75T;MBD1:NM_001204138:exon3:c.A224C:p.K75T;MBD1:NM_015846:exon3:c.A224C:p.K75T;MBD1:NM_001204140:exon3:c.A224C:p.K75T;MBD1:NM_001204139:exon3:c.A224C:p.K75T;MBD1:NM_015844:exon3:c.A224C:p.K75T;MBD1:NM_001204136:exon3:c.A224C:p.K75T;MBD1:NM_015847:exon3:c.A224C:p.K75T;MBD1:NM_001204141:exon3:c.A224C:p.K75T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000424334:exon3:c.A302C:p.K101T;ENSG00000141644:ENST00000591535:exon2:c.A224C:p.K75T;ENSG00000141644:ENST00000398493:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000398488:exon2:c.A224C:p.K75T;ENSG00000141644:ENST00000353909:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000339998:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000591416:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000269471:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000457839:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000590208:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000347968:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000382948:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000588937:exon2:c.A224C:p.K75T;ENSG00000141644:ENST00000349085:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000436910:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000269468:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000398495:exon2:c.A224C:p.K75T;ENSG00000141644:ENST00000585672:exon3:c.A224C:p.K75T;ENSG00000141644:ENST00000587605:exon3:c.A224C:p.K75T;	0.999824128973856	0.992
18	47803462	T	A	18	50277092	y	y	exonic	MBD1	stopgain SNV	MBD1:NM_002384:exon3:c.A223T:p.K75X;MBD1:NM_001204151:exon2:c.A223T:p.K75X;MBD1:NM_001204137:exon3:c.A223T:p.K75X;MBD1:NM_015845:exon3:c.A223T:p.K75X;MBD1:NM_001204142:exon3:c.A223T:p.K75X;MBD1:NM_001204143:exon3:c.A223T:p.K75X;MBD1:NM_001204138:exon3:c.A223T:p.K75X;MBD1:NM_015846:exon3:c.A223T:p.K75X;MBD1:NM_001204140:exon3:c.A223T:p.K75X;MBD1:NM_001204139:exon3:c.A223T:p.K75X;MBD1:NM_015844:exon3:c.A223T:p.K75X;MBD1:NM_001204136:exon3:c.A223T:p.K75X;MBD1:NM_015847:exon3:c.A223T:p.K75X;MBD1:NM_001204141:exon3:c.A223T:p.K75X;	exonic	ENSG00000141644	stopgain SNV	ENSG00000141644:ENST00000585595:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000424334:exon3:c.A301T:p.K101X;ENSG00000141644:ENST00000591535:exon2:c.A223T:p.K75X;ENSG00000141644:ENST00000398493:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000398488:exon2:c.A223T:p.K75X;ENSG00000141644:ENST00000353909:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000339998:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000591416:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000269471:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000457839:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000590208:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000347968:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000382948:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000588937:exon2:c.A223T:p.K75X;ENSG00000141644:ENST00000349085:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000436910:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000269468:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000398495:exon2:c.A223T:p.K75X;ENSG00000141644:ENST00000585672:exon3:c.A223T:p.K75X;ENSG00000141644:ENST00000587605:exon3:c.A223T:p.K75X;	0.990465696599117	0.776
18	47803462	T	C	18	50277092	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.A223G:p.K75E;MBD1:NM_001204151:exon2:c.A223G:p.K75E;MBD1:NM_001204137:exon3:c.A223G:p.K75E;MBD1:NM_015845:exon3:c.A223G:p.K75E;MBD1:NM_001204142:exon3:c.A223G:p.K75E;MBD1:NM_001204143:exon3:c.A223G:p.K75E;MBD1:NM_001204138:exon3:c.A223G:p.K75E;MBD1:NM_015846:exon3:c.A223G:p.K75E;MBD1:NM_001204140:exon3:c.A223G:p.K75E;MBD1:NM_001204139:exon3:c.A223G:p.K75E;MBD1:NM_015844:exon3:c.A223G:p.K75E;MBD1:NM_001204136:exon3:c.A223G:p.K75E;MBD1:NM_015847:exon3:c.A223G:p.K75E;MBD1:NM_001204141:exon3:c.A223G:p.K75E;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000424334:exon3:c.A301G:p.K101E;ENSG00000141644:ENST00000591535:exon2:c.A223G:p.K75E;ENSG00000141644:ENST00000398493:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000398488:exon2:c.A223G:p.K75E;ENSG00000141644:ENST00000353909:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000339998:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000591416:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000269471:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000457839:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000590208:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000347968:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000382948:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000588937:exon2:c.A223G:p.K75E;ENSG00000141644:ENST00000349085:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000436910:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000269468:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000398495:exon2:c.A223G:p.K75E;ENSG00000141644:ENST00000585672:exon3:c.A223G:p.K75E;ENSG00000141644:ENST00000587605:exon3:c.A223G:p.K75E;	0.27898059459412	0.42
18	47803462	T	G	18	50277092	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.A223C:p.K75Q;MBD1:NM_001204151:exon2:c.A223C:p.K75Q;MBD1:NM_001204137:exon3:c.A223C:p.K75Q;MBD1:NM_015845:exon3:c.A223C:p.K75Q;MBD1:NM_001204142:exon3:c.A223C:p.K75Q;MBD1:NM_001204143:exon3:c.A223C:p.K75Q;MBD1:NM_001204138:exon3:c.A223C:p.K75Q;MBD1:NM_015846:exon3:c.A223C:p.K75Q;MBD1:NM_001204140:exon3:c.A223C:p.K75Q;MBD1:NM_001204139:exon3:c.A223C:p.K75Q;MBD1:NM_015844:exon3:c.A223C:p.K75Q;MBD1:NM_001204136:exon3:c.A223C:p.K75Q;MBD1:NM_015847:exon3:c.A223C:p.K75Q;MBD1:NM_001204141:exon3:c.A223C:p.K75Q;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000424334:exon3:c.A301C:p.K101Q;ENSG00000141644:ENST00000591535:exon2:c.A223C:p.K75Q;ENSG00000141644:ENST00000398493:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000398488:exon2:c.A223C:p.K75Q;ENSG00000141644:ENST00000353909:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000339998:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000591416:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000269471:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000457839:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000590208:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000347968:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000382948:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000588937:exon2:c.A223C:p.K75Q;ENSG00000141644:ENST00000349085:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000436910:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000269468:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000398495:exon2:c.A223C:p.K75Q;ENSG00000141644:ENST00000585672:exon3:c.A223C:p.K75Q;ENSG00000141644:ENST00000587605:exon3:c.A223C:p.K75Q;	0.657721766378899	0.628
18	47803573	G	A	18	50277203	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.C112T:p.P38S;MBD1:NM_001204151:exon2:c.C112T:p.P38S;MBD1:NM_001204137:exon3:c.C112T:p.P38S;MBD1:NM_015845:exon3:c.C112T:p.P38S;MBD1:NM_001204142:exon3:c.C112T:p.P38S;MBD1:NM_001204143:exon3:c.C112T:p.P38S;MBD1:NM_001204138:exon3:c.C112T:p.P38S;MBD1:NM_015846:exon3:c.C112T:p.P38S;MBD1:NM_001204140:exon3:c.C112T:p.P38S;MBD1:NM_001204139:exon3:c.C112T:p.P38S;MBD1:NM_015844:exon3:c.C112T:p.P38S;MBD1:NM_001204136:exon3:c.C112T:p.P38S;MBD1:NM_015847:exon3:c.C112T:p.P38S;MBD1:NM_001204141:exon3:c.C112T:p.P38S;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000424334:exon3:c.C190T:p.P64S;ENSG00000141644:ENST00000591535:exon2:c.C112T:p.P38S;ENSG00000141644:ENST00000398493:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000398488:exon2:c.C112T:p.P38S;ENSG00000141644:ENST00000353909:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000339998:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000591416:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000269471:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000457839:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000590208:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000347968:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000382948:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000588937:exon2:c.C112T:p.P38S;ENSG00000141644:ENST00000349085:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000436910:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000269468:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000398495:exon2:c.C112T:p.P38S;ENSG00000141644:ENST00000585672:exon3:c.C112T:p.P38S;ENSG00000141644:ENST00000587605:exon3:c.C112T:p.P38S;	0.982230862457328	0.85
18	47803573	G	C	18	50277203	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.C112G:p.P38A;MBD1:NM_001204151:exon2:c.C112G:p.P38A;MBD1:NM_001204137:exon3:c.C112G:p.P38A;MBD1:NM_015845:exon3:c.C112G:p.P38A;MBD1:NM_001204142:exon3:c.C112G:p.P38A;MBD1:NM_001204143:exon3:c.C112G:p.P38A;MBD1:NM_001204138:exon3:c.C112G:p.P38A;MBD1:NM_015846:exon3:c.C112G:p.P38A;MBD1:NM_001204140:exon3:c.C112G:p.P38A;MBD1:NM_001204139:exon3:c.C112G:p.P38A;MBD1:NM_015844:exon3:c.C112G:p.P38A;MBD1:NM_001204136:exon3:c.C112G:p.P38A;MBD1:NM_015847:exon3:c.C112G:p.P38A;MBD1:NM_001204141:exon3:c.C112G:p.P38A;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000424334:exon3:c.C190G:p.P64A;ENSG00000141644:ENST00000591535:exon2:c.C112G:p.P38A;ENSG00000141644:ENST00000398493:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000398488:exon2:c.C112G:p.P38A;ENSG00000141644:ENST00000353909:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000339998:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000591416:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000269471:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000457839:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000590208:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000347968:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000382948:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000588937:exon2:c.C112G:p.P38A;ENSG00000141644:ENST00000349085:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000436910:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000269468:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000398495:exon2:c.C112G:p.P38A;ENSG00000141644:ENST00000585672:exon3:c.C112G:p.P38A;ENSG00000141644:ENST00000587605:exon3:c.C112G:p.P38A;	0.978826915213295	0.854
18	47803573	G	T	18	50277203	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.C112A:p.P38T;MBD1:NM_001204151:exon2:c.C112A:p.P38T;MBD1:NM_001204137:exon3:c.C112A:p.P38T;MBD1:NM_015845:exon3:c.C112A:p.P38T;MBD1:NM_001204142:exon3:c.C112A:p.P38T;MBD1:NM_001204143:exon3:c.C112A:p.P38T;MBD1:NM_001204138:exon3:c.C112A:p.P38T;MBD1:NM_015846:exon3:c.C112A:p.P38T;MBD1:NM_001204140:exon3:c.C112A:p.P38T;MBD1:NM_001204139:exon3:c.C112A:p.P38T;MBD1:NM_015844:exon3:c.C112A:p.P38T;MBD1:NM_001204136:exon3:c.C112A:p.P38T;MBD1:NM_015847:exon3:c.C112A:p.P38T;MBD1:NM_001204141:exon3:c.C112A:p.P38T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000424334:exon3:c.C190A:p.P64T;ENSG00000141644:ENST00000591535:exon2:c.C112A:p.P38T;ENSG00000141644:ENST00000398493:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000398488:exon2:c.C112A:p.P38T;ENSG00000141644:ENST00000353909:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000339998:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000591416:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000269471:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000457839:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000590208:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000347968:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000382948:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000588937:exon2:c.C112A:p.P38T;ENSG00000141644:ENST00000349085:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000436910:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000269468:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000398495:exon2:c.C112A:p.P38T;ENSG00000141644:ENST00000585672:exon3:c.C112A:p.P38T;ENSG00000141644:ENST00000587605:exon3:c.C112A:p.P38T;	0.986516373828173	0.744
18	47803574	G	A	18	50277204	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon3:c.C111T:p.S37S;MBD1:NM_001204151:exon2:c.C111T:p.S37S;MBD1:NM_001204137:exon3:c.C111T:p.S37S;MBD1:NM_015845:exon3:c.C111T:p.S37S;MBD1:NM_001204142:exon3:c.C111T:p.S37S;MBD1:NM_001204143:exon3:c.C111T:p.S37S;MBD1:NM_001204138:exon3:c.C111T:p.S37S;MBD1:NM_015846:exon3:c.C111T:p.S37S;MBD1:NM_001204140:exon3:c.C111T:p.S37S;MBD1:NM_001204139:exon3:c.C111T:p.S37S;MBD1:NM_015844:exon3:c.C111T:p.S37S;MBD1:NM_001204136:exon3:c.C111T:p.S37S;MBD1:NM_015847:exon3:c.C111T:p.S37S;MBD1:NM_001204141:exon3:c.C111T:p.S37S;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000424334:exon3:c.C189T:p.S63S;ENSG00000141644:ENST00000591535:exon2:c.C111T:p.S37S;ENSG00000141644:ENST00000398493:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000398488:exon2:c.C111T:p.S37S;ENSG00000141644:ENST00000353909:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000339998:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000591416:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000269471:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000457839:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000590208:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000347968:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000382948:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000588937:exon2:c.C111T:p.S37S;ENSG00000141644:ENST00000349085:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000436910:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000269468:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000398495:exon2:c.C111T:p.S37S;ENSG00000141644:ENST00000585672:exon3:c.C111T:p.S37S;ENSG00000141644:ENST00000587605:exon3:c.C111T:p.S37S;	0.00979532412053876	0.346
18	47803574	G	C	18	50277204	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.C111G:p.S37R;MBD1:NM_001204151:exon2:c.C111G:p.S37R;MBD1:NM_001204137:exon3:c.C111G:p.S37R;MBD1:NM_015845:exon3:c.C111G:p.S37R;MBD1:NM_001204142:exon3:c.C111G:p.S37R;MBD1:NM_001204143:exon3:c.C111G:p.S37R;MBD1:NM_001204138:exon3:c.C111G:p.S37R;MBD1:NM_015846:exon3:c.C111G:p.S37R;MBD1:NM_001204140:exon3:c.C111G:p.S37R;MBD1:NM_001204139:exon3:c.C111G:p.S37R;MBD1:NM_015844:exon3:c.C111G:p.S37R;MBD1:NM_001204136:exon3:c.C111G:p.S37R;MBD1:NM_015847:exon3:c.C111G:p.S37R;MBD1:NM_001204141:exon3:c.C111G:p.S37R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000424334:exon3:c.C189G:p.S63R;ENSG00000141644:ENST00000591535:exon2:c.C111G:p.S37R;ENSG00000141644:ENST00000398493:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000398488:exon2:c.C111G:p.S37R;ENSG00000141644:ENST00000353909:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000339998:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000591416:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000269471:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000457839:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000590208:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000347968:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000382948:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000588937:exon2:c.C111G:p.S37R;ENSG00000141644:ENST00000349085:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000436910:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000269468:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000398495:exon2:c.C111G:p.S37R;ENSG00000141644:ENST00000585672:exon3:c.C111G:p.S37R;ENSG00000141644:ENST00000587605:exon3:c.C111G:p.S37R;	0.077910387526908	0.552
18	47803574	G	T	18	50277204	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon3:c.C111A:p.S37R;MBD1:NM_001204151:exon2:c.C111A:p.S37R;MBD1:NM_001204137:exon3:c.C111A:p.S37R;MBD1:NM_015845:exon3:c.C111A:p.S37R;MBD1:NM_001204142:exon3:c.C111A:p.S37R;MBD1:NM_001204143:exon3:c.C111A:p.S37R;MBD1:NM_001204138:exon3:c.C111A:p.S37R;MBD1:NM_015846:exon3:c.C111A:p.S37R;MBD1:NM_001204140:exon3:c.C111A:p.S37R;MBD1:NM_001204139:exon3:c.C111A:p.S37R;MBD1:NM_015844:exon3:c.C111A:p.S37R;MBD1:NM_001204136:exon3:c.C111A:p.S37R;MBD1:NM_015847:exon3:c.C111A:p.S37R;MBD1:NM_001204141:exon3:c.C111A:p.S37R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000424334:exon3:c.C189A:p.S63R;ENSG00000141644:ENST00000591535:exon2:c.C111A:p.S37R;ENSG00000141644:ENST00000398493:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000398488:exon2:c.C111A:p.S37R;ENSG00000141644:ENST00000353909:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000339998:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000591416:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000269471:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000457839:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000590208:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000347968:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000382948:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000588937:exon2:c.C111A:p.S37R;ENSG00000141644:ENST00000349085:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000436910:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000269468:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000398495:exon2:c.C111A:p.S37R;ENSG00000141644:ENST00000585672:exon3:c.C111A:p.S37R;ENSG00000141644:ENST00000587605:exon3:c.C111A:p.S37R;	0.0566098610282068	0.574
18	47803575	C	A	18	50277205	y	y	splicing	MBD1(NM_001204139:exon4:c.111-1G>T;NM_001204141:exon4:c.111-1G>T;NM_002384:exon4:c.111-1G>T;NM_015847:exon4:c.111-1G>T;NM_015846:exon4:c.111-1G>T;NM_015845:exon4:c.111-1G>T;NM_001204136:exon4:c.111-1G>T;NM_015844:exon4:c.111-1G>T;NM_001204143:exon4:c.111-1G>T;NM_001204142:exon4:c.111-1G>T;NM_001204140:exon4:c.111-1G>T;NM_001204138:exon4:c.111-1G>T;NM_001204137:exon4:c.111-1G>T;NM_001204151:exon3:c.111-1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.111-1G>T;ENST00000382948:exon4:c.111-1G>T;ENST00000353909:exon4:c.111-1G>T;ENST00000591416:exon4:c.111-1G>T;ENST00000349085:exon4:c.111-1G>T;ENST00000436910:exon4:c.111-1G>T;ENST00000347968:exon4:c.111-1G>T;ENST00000269468:exon4:c.111-1G>T;ENST00000269471:exon4:c.111-1G>T;ENST00000339998:exon4:c.111-1G>T;ENST00000590208:exon4:c.111-1G>T;ENST00000587605:exon4:c.111-1G>T;ENST00000588937:exon3:c.111-1G>T;ENST00000424334:exon4:c.189-1G>T;ENST00000585595:exon4:c.111-1G>T;ENST00000398495:exon3:c.111-1G>T;ENST00000457839:exon4:c.111-1G>T;ENST00000398493:exon4:c.111-1G>T;ENST00000591535:exon3:c.111-1G>T;ENST00000398488:exon3:c.111-1G>T)	.	.	0.999968021563937	0.924
18	47803575	C	G	18	50277205	y	y	splicing	MBD1(NM_001204139:exon4:c.111-1G>C;NM_001204141:exon4:c.111-1G>C;NM_002384:exon4:c.111-1G>C;NM_015847:exon4:c.111-1G>C;NM_015846:exon4:c.111-1G>C;NM_015845:exon4:c.111-1G>C;NM_001204136:exon4:c.111-1G>C;NM_015844:exon4:c.111-1G>C;NM_001204143:exon4:c.111-1G>C;NM_001204142:exon4:c.111-1G>C;NM_001204140:exon4:c.111-1G>C;NM_001204138:exon4:c.111-1G>C;NM_001204137:exon4:c.111-1G>C;NM_001204151:exon3:c.111-1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.111-1G>C;ENST00000382948:exon4:c.111-1G>C;ENST00000353909:exon4:c.111-1G>C;ENST00000591416:exon4:c.111-1G>C;ENST00000349085:exon4:c.111-1G>C;ENST00000436910:exon4:c.111-1G>C;ENST00000347968:exon4:c.111-1G>C;ENST00000269468:exon4:c.111-1G>C;ENST00000269471:exon4:c.111-1G>C;ENST00000339998:exon4:c.111-1G>C;ENST00000590208:exon4:c.111-1G>C;ENST00000587605:exon4:c.111-1G>C;ENST00000588937:exon3:c.111-1G>C;ENST00000424334:exon4:c.189-1G>C;ENST00000585595:exon4:c.111-1G>C;ENST00000398495:exon3:c.111-1G>C;ENST00000457839:exon4:c.111-1G>C;ENST00000398493:exon4:c.111-1G>C;ENST00000591535:exon3:c.111-1G>C;ENST00000398488:exon3:c.111-1G>C)	.	.	0.999968021563937	0.924
18	47803575	C	T	18	50277205	y	y	splicing	MBD1(NM_001204139:exon4:c.111-1G>A;NM_001204141:exon4:c.111-1G>A;NM_002384:exon4:c.111-1G>A;NM_015847:exon4:c.111-1G>A;NM_015846:exon4:c.111-1G>A;NM_015845:exon4:c.111-1G>A;NM_001204136:exon4:c.111-1G>A;NM_015844:exon4:c.111-1G>A;NM_001204143:exon4:c.111-1G>A;NM_001204142:exon4:c.111-1G>A;NM_001204140:exon4:c.111-1G>A;NM_001204138:exon4:c.111-1G>A;NM_001204137:exon4:c.111-1G>A;NM_001204151:exon3:c.111-1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.111-1G>A;ENST00000382948:exon4:c.111-1G>A;ENST00000353909:exon4:c.111-1G>A;ENST00000591416:exon4:c.111-1G>A;ENST00000349085:exon4:c.111-1G>A;ENST00000436910:exon4:c.111-1G>A;ENST00000347968:exon4:c.111-1G>A;ENST00000269468:exon4:c.111-1G>A;ENST00000269471:exon4:c.111-1G>A;ENST00000339998:exon4:c.111-1G>A;ENST00000590208:exon4:c.111-1G>A;ENST00000587605:exon4:c.111-1G>A;ENST00000588937:exon3:c.111-1G>A;ENST00000424334:exon4:c.189-1G>A;ENST00000585595:exon4:c.111-1G>A;ENST00000398495:exon3:c.111-1G>A;ENST00000457839:exon4:c.111-1G>A;ENST00000398493:exon4:c.111-1G>A;ENST00000591535:exon3:c.111-1G>A;ENST00000398488:exon3:c.111-1G>A)	.	.	0.999968021563937	0.926
18	47803576	T	A	18	50277206	y	y	splicing	MBD1(NM_001204139:exon4:c.111-2A>T;NM_001204141:exon4:c.111-2A>T;NM_002384:exon4:c.111-2A>T;NM_015847:exon4:c.111-2A>T;NM_015846:exon4:c.111-2A>T;NM_015845:exon4:c.111-2A>T;NM_001204136:exon4:c.111-2A>T;NM_015844:exon4:c.111-2A>T;NM_001204143:exon4:c.111-2A>T;NM_001204142:exon4:c.111-2A>T;NM_001204140:exon4:c.111-2A>T;NM_001204138:exon4:c.111-2A>T;NM_001204137:exon4:c.111-2A>T;NM_001204151:exon3:c.111-2A>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.111-2A>T;ENST00000382948:exon4:c.111-2A>T;ENST00000353909:exon4:c.111-2A>T;ENST00000591416:exon4:c.111-2A>T;ENST00000349085:exon4:c.111-2A>T;ENST00000436910:exon4:c.111-2A>T;ENST00000347968:exon4:c.111-2A>T;ENST00000269468:exon4:c.111-2A>T;ENST00000269471:exon4:c.111-2A>T;ENST00000339998:exon4:c.111-2A>T;ENST00000590208:exon4:c.111-2A>T;ENST00000587605:exon4:c.111-2A>T;ENST00000588937:exon3:c.111-2A>T;ENST00000424334:exon4:c.189-2A>T;ENST00000585595:exon4:c.111-2A>T;ENST00000398495:exon3:c.111-2A>T;ENST00000457839:exon4:c.111-2A>T;ENST00000398493:exon4:c.111-2A>T;ENST00000591535:exon3:c.111-2A>T;ENST00000398488:exon3:c.111-2A>T)	.	.	0.999982322733069	0.924
18	47803576	T	C	18	50277206	y	y	splicing	MBD1(NM_001204139:exon4:c.111-2A>G;NM_001204141:exon4:c.111-2A>G;NM_002384:exon4:c.111-2A>G;NM_015847:exon4:c.111-2A>G;NM_015846:exon4:c.111-2A>G;NM_015845:exon4:c.111-2A>G;NM_001204136:exon4:c.111-2A>G;NM_015844:exon4:c.111-2A>G;NM_001204143:exon4:c.111-2A>G;NM_001204142:exon4:c.111-2A>G;NM_001204140:exon4:c.111-2A>G;NM_001204138:exon4:c.111-2A>G;NM_001204137:exon4:c.111-2A>G;NM_001204151:exon3:c.111-2A>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.111-2A>G;ENST00000382948:exon4:c.111-2A>G;ENST00000353909:exon4:c.111-2A>G;ENST00000591416:exon4:c.111-2A>G;ENST00000349085:exon4:c.111-2A>G;ENST00000436910:exon4:c.111-2A>G;ENST00000347968:exon4:c.111-2A>G;ENST00000269468:exon4:c.111-2A>G;ENST00000269471:exon4:c.111-2A>G;ENST00000339998:exon4:c.111-2A>G;ENST00000590208:exon4:c.111-2A>G;ENST00000587605:exon4:c.111-2A>G;ENST00000588937:exon3:c.111-2A>G;ENST00000424334:exon4:c.189-2A>G;ENST00000585595:exon4:c.111-2A>G;ENST00000398495:exon3:c.111-2A>G;ENST00000457839:exon4:c.111-2A>G;ENST00000398493:exon4:c.111-2A>G;ENST00000591535:exon3:c.111-2A>G;ENST00000398488:exon3:c.111-2A>G)	.	.	0.999982322733069	0.924
18	47803576	T	G	18	50277206	y	y	splicing	MBD1(NM_001204139:exon4:c.111-2A>C;NM_001204141:exon4:c.111-2A>C;NM_002384:exon4:c.111-2A>C;NM_015847:exon4:c.111-2A>C;NM_015846:exon4:c.111-2A>C;NM_015845:exon4:c.111-2A>C;NM_001204136:exon4:c.111-2A>C;NM_015844:exon4:c.111-2A>C;NM_001204143:exon4:c.111-2A>C;NM_001204142:exon4:c.111-2A>C;NM_001204140:exon4:c.111-2A>C;NM_001204138:exon4:c.111-2A>C;NM_001204137:exon4:c.111-2A>C;NM_001204151:exon3:c.111-2A>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon4:c.111-2A>C;ENST00000382948:exon4:c.111-2A>C;ENST00000353909:exon4:c.111-2A>C;ENST00000591416:exon4:c.111-2A>C;ENST00000349085:exon4:c.111-2A>C;ENST00000436910:exon4:c.111-2A>C;ENST00000347968:exon4:c.111-2A>C;ENST00000269468:exon4:c.111-2A>C;ENST00000269471:exon4:c.111-2A>C;ENST00000339998:exon4:c.111-2A>C;ENST00000590208:exon4:c.111-2A>C;ENST00000587605:exon4:c.111-2A>C;ENST00000588937:exon3:c.111-2A>C;ENST00000424334:exon4:c.189-2A>C;ENST00000585595:exon4:c.111-2A>C;ENST00000398495:exon3:c.111-2A>C;ENST00000457839:exon4:c.111-2A>C;ENST00000398493:exon4:c.111-2A>C;ENST00000591535:exon3:c.111-2A>C;ENST00000398488:exon3:c.111-2A>C)	.	.	0.999982322733069	0.924
18	47803577	A	C	18	50277207	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.441806434113092	0.544
18	47803577	A	G	18	50277207	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.66435489540988E-5	0.004
18	47803577	A	T	18	50277207	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0405378454123886	0.34
18	47803578	G	A	18	50277208	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.16409457478184E-4	0.016
18	47803578	G	C	18	50277208	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.40450840829453E-4	0.018
18	47803578	G	T	18	50277208	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.88594680916414E-5	0.0
18	47803579	G	A	18	50277209	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.05610046827754E-4	0.02
18	47803579	G	C	18	50277209	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.133204077485641	0.218
18	47803579	G	T	18	50277209	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0305438293646507	0.196
18	47803580	G	A	18	50277210	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.07880150194047E-4	0.022
18	47803580	G	C	18	50277210	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0517445668236081	0.334
18	47803580	G	T	18	50277210	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0535200076066558	0.324
18	47803581	A	C	18	50277211	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99957230969371	0.934
18	47803581	A	G	18	50277211	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.14859640300957E-4	0.03
18	47803581	A	T	18	50277211	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.193000777554441	0.364
18	47803582	T	A	18	50277212	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.17125212193946E-4	0.054
18	47803582	T	C	18	50277212	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.51385651055918E-4	0.014
18	47803582	T	G	18	50277212	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.06951271644178E-5	0.01
18	47803583	G	A	18	50277213	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.59852716175043E-4	0.014
18	47803583	G	C	18	50277213	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0133248016861854	0.162
18	47803583	G	T	18	50277213	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.028461624389821	0.206
18	47803584	G	A	18	50277214	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.26513501095067E-5	0.01
18	47803584	G	C	18	50277214	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0117990749442091	0.098
18	47803584	G	T	18	50277214	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0973475525961786	0.144
18	47803585	G	A	18	50277215	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.34089498807524E-5	0.016
18	47803585	G	C	18	50277215	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.25776029329359E-4	0.076
18	47803585	G	T	18	50277215	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.53850827018246E-4	0.066
18	47803586	C	A	18	50277216	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0180227414438141	0.328
18	47803586	C	G	18	50277216	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0221475809760675	0.328
18	47803586	C	T	18	50277216	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0526601063908144	0.24
18	47806245	C	A	18	50279875	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.39795284968197E-4	0.008
18	47806245	C	G	18	50279875	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.42624245541634E-4	0.0
18	47806245	C	T	18	50279875	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00116083263703695	0.076
18	47806246	C	A	18	50279876	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00684484443542341	0.032
18	47806246	C	G	18	50279876	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00684484443542341	0.02
18	47806246	C	T	18	50279876	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00484765350272521	0.024
18	47806247	C	A	18	50279877	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00224302229412834	0.112
18	47806247	C	G	18	50279877	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0119364675169876	0.184
18	47806247	C	T	18	50279877	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0160641829784272	0.204
18	47806248	A	C	18	50279878	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00192523810522944	0.082
18	47806248	A	G	18	50279878	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.14199213089614E-5	0.0
18	47806248	A	T	18	50279878	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.75760069635371E-4	0.028
18	47806249	G	A	18	50279879	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0146357872640222	0.254
18	47806249	G	C	18	50279879	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0140548091702263	0.206
18	47806249	G	T	18	50279879	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.05093689665078E-4	0.046
18	47806250	T	A	18	50279880	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999963375809222	0.95
18	47806250	T	C	18	50279880	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999455495287821	0.962
18	47806250	T	G	18	50279880	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999958479498252	0.964
18	47806251	A	C	18	50279881	y	y	splicing	MBD1(NM_001204139:exon3:c.110+2T>G;NM_001204141:exon3:c.110+2T>G;NM_002384:exon3:c.110+2T>G;NM_015847:exon3:c.110+2T>G;NM_015846:exon3:c.110+2T>G;NM_015845:exon3:c.110+2T>G;NM_001204136:exon3:c.110+2T>G;NM_015844:exon3:c.110+2T>G;NM_001204143:exon3:c.110+2T>G;NM_001204142:exon3:c.110+2T>G;NM_001204140:exon3:c.110+2T>G;NM_001204138:exon3:c.110+2T>G;NM_001204137:exon3:c.110+2T>G;NM_001204151:exon2:c.110+2T>G)	.	.	splicing	ENSG00000141644(ENST00000585672:exon3:c.110+2T>G;ENST00000382948:exon3:c.110+2T>G;ENST00000353909:exon3:c.110+2T>G;ENST00000591416:exon3:c.110+2T>G;ENST00000349085:exon3:c.110+2T>G;ENST00000436910:exon3:c.110+2T>G;ENST00000347968:exon3:c.110+2T>G;ENST00000269468:exon3:c.110+2T>G;ENST00000269471:exon3:c.110+2T>G;ENST00000339998:exon3:c.110+2T>G;ENST00000590208:exon3:c.110+2T>G;ENST00000587605:exon3:c.110+2T>G;ENST00000588937:exon2:c.110+2T>G;ENST00000424334:exon3:c.188+2T>G;ENST00000585595:exon3:c.110+2T>G;ENST00000398495:exon2:c.110+2T>G;ENST00000457839:exon3:c.110+2T>G;ENST00000398493:exon3:c.110+2T>G;ENST00000591535:exon2:c.110+2T>G;ENST00000398488:exon2:c.110+2T>G;ENST00000590215:exon3:c.110+2T>G)	.	.	0.999949366401994	0.914
18	47806251	A	G	18	50279881	y	y	splicing	MBD1(NM_001204139:exon3:c.110+2T>C;NM_001204141:exon3:c.110+2T>C;NM_002384:exon3:c.110+2T>C;NM_015847:exon3:c.110+2T>C;NM_015846:exon3:c.110+2T>C;NM_015845:exon3:c.110+2T>C;NM_001204136:exon3:c.110+2T>C;NM_015844:exon3:c.110+2T>C;NM_001204143:exon3:c.110+2T>C;NM_001204142:exon3:c.110+2T>C;NM_001204140:exon3:c.110+2T>C;NM_001204138:exon3:c.110+2T>C;NM_001204137:exon3:c.110+2T>C;NM_001204151:exon2:c.110+2T>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon3:c.110+2T>C;ENST00000382948:exon3:c.110+2T>C;ENST00000353909:exon3:c.110+2T>C;ENST00000591416:exon3:c.110+2T>C;ENST00000349085:exon3:c.110+2T>C;ENST00000436910:exon3:c.110+2T>C;ENST00000347968:exon3:c.110+2T>C;ENST00000269468:exon3:c.110+2T>C;ENST00000269471:exon3:c.110+2T>C;ENST00000339998:exon3:c.110+2T>C;ENST00000590208:exon3:c.110+2T>C;ENST00000587605:exon3:c.110+2T>C;ENST00000588937:exon2:c.110+2T>C;ENST00000424334:exon3:c.188+2T>C;ENST00000585595:exon3:c.110+2T>C;ENST00000398495:exon2:c.110+2T>C;ENST00000457839:exon3:c.110+2T>C;ENST00000398493:exon3:c.110+2T>C;ENST00000591535:exon2:c.110+2T>C;ENST00000398488:exon2:c.110+2T>C;ENST00000590215:exon3:c.110+2T>C)	.	.	0.974224183373059	0.576
18	47806251	A	T	18	50279881	y	y	splicing	MBD1(NM_001204139:exon3:c.110+2T>A;NM_001204141:exon3:c.110+2T>A;NM_002384:exon3:c.110+2T>A;NM_015847:exon3:c.110+2T>A;NM_015846:exon3:c.110+2T>A;NM_015845:exon3:c.110+2T>A;NM_001204136:exon3:c.110+2T>A;NM_015844:exon3:c.110+2T>A;NM_001204143:exon3:c.110+2T>A;NM_001204142:exon3:c.110+2T>A;NM_001204140:exon3:c.110+2T>A;NM_001204138:exon3:c.110+2T>A;NM_001204137:exon3:c.110+2T>A;NM_001204151:exon2:c.110+2T>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon3:c.110+2T>A;ENST00000382948:exon3:c.110+2T>A;ENST00000353909:exon3:c.110+2T>A;ENST00000591416:exon3:c.110+2T>A;ENST00000349085:exon3:c.110+2T>A;ENST00000436910:exon3:c.110+2T>A;ENST00000347968:exon3:c.110+2T>A;ENST00000269468:exon3:c.110+2T>A;ENST00000269471:exon3:c.110+2T>A;ENST00000339998:exon3:c.110+2T>A;ENST00000590208:exon3:c.110+2T>A;ENST00000587605:exon3:c.110+2T>A;ENST00000588937:exon2:c.110+2T>A;ENST00000424334:exon3:c.188+2T>A;ENST00000585595:exon3:c.110+2T>A;ENST00000398495:exon2:c.110+2T>A;ENST00000457839:exon3:c.110+2T>A;ENST00000398493:exon3:c.110+2T>A;ENST00000591535:exon2:c.110+2T>A;ENST00000398488:exon2:c.110+2T>A;ENST00000590215:exon3:c.110+2T>A)	.	.	0.999980378146777	0.914
18	47806252	C	A	18	50279882	y	y	splicing	MBD1(NM_001204139:exon3:c.110+1G>T;NM_001204141:exon3:c.110+1G>T;NM_002384:exon3:c.110+1G>T;NM_015847:exon3:c.110+1G>T;NM_015846:exon3:c.110+1G>T;NM_015845:exon3:c.110+1G>T;NM_001204136:exon3:c.110+1G>T;NM_015844:exon3:c.110+1G>T;NM_001204143:exon3:c.110+1G>T;NM_001204142:exon3:c.110+1G>T;NM_001204140:exon3:c.110+1G>T;NM_001204138:exon3:c.110+1G>T;NM_001204137:exon3:c.110+1G>T;NM_001204151:exon2:c.110+1G>T)	.	.	splicing	ENSG00000141644(ENST00000585672:exon3:c.110+1G>T;ENST00000382948:exon3:c.110+1G>T;ENST00000353909:exon3:c.110+1G>T;ENST00000591416:exon3:c.110+1G>T;ENST00000349085:exon3:c.110+1G>T;ENST00000436910:exon3:c.110+1G>T;ENST00000347968:exon3:c.110+1G>T;ENST00000269468:exon3:c.110+1G>T;ENST00000269471:exon3:c.110+1G>T;ENST00000339998:exon3:c.110+1G>T;ENST00000590208:exon3:c.110+1G>T;ENST00000587605:exon3:c.110+1G>T;ENST00000588937:exon2:c.110+1G>T;ENST00000424334:exon3:c.188+1G>T;ENST00000585595:exon3:c.110+1G>T;ENST00000398495:exon2:c.110+1G>T;ENST00000457839:exon3:c.110+1G>T;ENST00000398493:exon3:c.110+1G>T;ENST00000591535:exon2:c.110+1G>T;ENST00000398488:exon2:c.110+1G>T;ENST00000590215:exon3:c.110+1G>T)	.	.	0.999976368862214	0.914
18	47806252	C	G	18	50279882	y	y	splicing	MBD1(NM_001204139:exon3:c.110+1G>C;NM_001204141:exon3:c.110+1G>C;NM_002384:exon3:c.110+1G>C;NM_015847:exon3:c.110+1G>C;NM_015846:exon3:c.110+1G>C;NM_015845:exon3:c.110+1G>C;NM_001204136:exon3:c.110+1G>C;NM_015844:exon3:c.110+1G>C;NM_001204143:exon3:c.110+1G>C;NM_001204142:exon3:c.110+1G>C;NM_001204140:exon3:c.110+1G>C;NM_001204138:exon3:c.110+1G>C;NM_001204137:exon3:c.110+1G>C;NM_001204151:exon2:c.110+1G>C)	.	.	splicing	ENSG00000141644(ENST00000585672:exon3:c.110+1G>C;ENST00000382948:exon3:c.110+1G>C;ENST00000353909:exon3:c.110+1G>C;ENST00000591416:exon3:c.110+1G>C;ENST00000349085:exon3:c.110+1G>C;ENST00000436910:exon3:c.110+1G>C;ENST00000347968:exon3:c.110+1G>C;ENST00000269468:exon3:c.110+1G>C;ENST00000269471:exon3:c.110+1G>C;ENST00000339998:exon3:c.110+1G>C;ENST00000590208:exon3:c.110+1G>C;ENST00000587605:exon3:c.110+1G>C;ENST00000588937:exon2:c.110+1G>C;ENST00000424334:exon3:c.188+1G>C;ENST00000585595:exon3:c.110+1G>C;ENST00000398495:exon2:c.110+1G>C;ENST00000457839:exon3:c.110+1G>C;ENST00000398493:exon3:c.110+1G>C;ENST00000591535:exon2:c.110+1G>C;ENST00000398488:exon2:c.110+1G>C;ENST00000590215:exon3:c.110+1G>C)	.	.	0.999976368862214	0.914
18	47806252	C	T	18	50279882	y	y	splicing	MBD1(NM_001204139:exon3:c.110+1G>A;NM_001204141:exon3:c.110+1G>A;NM_002384:exon3:c.110+1G>A;NM_015847:exon3:c.110+1G>A;NM_015846:exon3:c.110+1G>A;NM_015845:exon3:c.110+1G>A;NM_001204136:exon3:c.110+1G>A;NM_015844:exon3:c.110+1G>A;NM_001204143:exon3:c.110+1G>A;NM_001204142:exon3:c.110+1G>A;NM_001204140:exon3:c.110+1G>A;NM_001204138:exon3:c.110+1G>A;NM_001204137:exon3:c.110+1G>A;NM_001204151:exon2:c.110+1G>A)	.	.	splicing	ENSG00000141644(ENST00000585672:exon3:c.110+1G>A;ENST00000382948:exon3:c.110+1G>A;ENST00000353909:exon3:c.110+1G>A;ENST00000591416:exon3:c.110+1G>A;ENST00000349085:exon3:c.110+1G>A;ENST00000436910:exon3:c.110+1G>A;ENST00000347968:exon3:c.110+1G>A;ENST00000269468:exon3:c.110+1G>A;ENST00000269471:exon3:c.110+1G>A;ENST00000339998:exon3:c.110+1G>A;ENST00000590208:exon3:c.110+1G>A;ENST00000587605:exon3:c.110+1G>A;ENST00000588937:exon2:c.110+1G>A;ENST00000424334:exon3:c.188+1G>A;ENST00000585595:exon3:c.110+1G>A;ENST00000398495:exon2:c.110+1G>A;ENST00000457839:exon3:c.110+1G>A;ENST00000398493:exon3:c.110+1G>A;ENST00000591535:exon2:c.110+1G>A;ENST00000398488:exon2:c.110+1G>A;ENST00000590215:exon3:c.110+1G>A)	.	.	0.999981808176352	0.912
18	47806253	C	A	18	50279883	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon2:c.G110T:p.S37I;MBD1:NM_001204151:exon1:c.G110T:p.S37I;MBD1:NM_001204137:exon2:c.G110T:p.S37I;MBD1:NM_015845:exon2:c.G110T:p.S37I;MBD1:NM_001204142:exon2:c.G110T:p.S37I;MBD1:NM_001204143:exon2:c.G110T:p.S37I;MBD1:NM_001204138:exon2:c.G110T:p.S37I;MBD1:NM_015846:exon2:c.G110T:p.S37I;MBD1:NM_001204140:exon2:c.G110T:p.S37I;MBD1:NM_001204139:exon2:c.G110T:p.S37I;MBD1:NM_015844:exon2:c.G110T:p.S37I;MBD1:NM_001204136:exon2:c.G110T:p.S37I;MBD1:NM_015847:exon2:c.G110T:p.S37I;MBD1:NM_001204141:exon2:c.G110T:p.S37I;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000590215:exon2:c.G110T:p.R37M;ENSG00000141644:ENST00000424334:exon2:c.G188T:p.S63I;ENSG00000141644:ENST00000591535:exon1:c.G110T:p.S37I;ENSG00000141644:ENST00000398493:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000398488:exon1:c.G110T:p.S37I;ENSG00000141644:ENST00000353909:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000339998:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000591416:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000269471:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000457839:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000590208:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000347968:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000382948:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000588937:exon1:c.G110T:p.S37I;ENSG00000141644:ENST00000349085:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000436910:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000269468:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000398495:exon1:c.G110T:p.S37I;ENSG00000141644:ENST00000585672:exon2:c.G110T:p.S37I;ENSG00000141644:ENST00000587605:exon2:c.G110T:p.S37I;	0.99999345690698	0.982
18	47806253	C	G	18	50279883	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon2:c.G110C:p.S37T;MBD1:NM_001204151:exon1:c.G110C:p.S37T;MBD1:NM_001204137:exon2:c.G110C:p.S37T;MBD1:NM_015845:exon2:c.G110C:p.S37T;MBD1:NM_001204142:exon2:c.G110C:p.S37T;MBD1:NM_001204143:exon2:c.G110C:p.S37T;MBD1:NM_001204138:exon2:c.G110C:p.S37T;MBD1:NM_015846:exon2:c.G110C:p.S37T;MBD1:NM_001204140:exon2:c.G110C:p.S37T;MBD1:NM_001204139:exon2:c.G110C:p.S37T;MBD1:NM_015844:exon2:c.G110C:p.S37T;MBD1:NM_001204136:exon2:c.G110C:p.S37T;MBD1:NM_015847:exon2:c.G110C:p.S37T;MBD1:NM_001204141:exon2:c.G110C:p.S37T;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000590215:exon2:c.G110C:p.R37T;ENSG00000141644:ENST00000424334:exon2:c.G188C:p.S63T;ENSG00000141644:ENST00000591535:exon1:c.G110C:p.S37T;ENSG00000141644:ENST00000398493:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000398488:exon1:c.G110C:p.S37T;ENSG00000141644:ENST00000353909:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000339998:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000591416:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000269471:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000457839:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000590208:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000347968:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000382948:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000588937:exon1:c.G110C:p.S37T;ENSG00000141644:ENST00000349085:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000436910:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000269468:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000398495:exon1:c.G110C:p.S37T;ENSG00000141644:ENST00000585672:exon2:c.G110C:p.S37T;ENSG00000141644:ENST00000587605:exon2:c.G110C:p.S37T;	0.999997012549539	1.0
18	47806253	C	T	18	50279883	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon2:c.G110A:p.S37N;MBD1:NM_001204151:exon1:c.G110A:p.S37N;MBD1:NM_001204137:exon2:c.G110A:p.S37N;MBD1:NM_015845:exon2:c.G110A:p.S37N;MBD1:NM_001204142:exon2:c.G110A:p.S37N;MBD1:NM_001204143:exon2:c.G110A:p.S37N;MBD1:NM_001204138:exon2:c.G110A:p.S37N;MBD1:NM_015846:exon2:c.G110A:p.S37N;MBD1:NM_001204140:exon2:c.G110A:p.S37N;MBD1:NM_001204139:exon2:c.G110A:p.S37N;MBD1:NM_015844:exon2:c.G110A:p.S37N;MBD1:NM_001204136:exon2:c.G110A:p.S37N;MBD1:NM_015847:exon2:c.G110A:p.S37N;MBD1:NM_001204141:exon2:c.G110A:p.S37N;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000590215:exon2:c.G110A:p.R37K;ENSG00000141644:ENST00000424334:exon2:c.G188A:p.S63N;ENSG00000141644:ENST00000591535:exon1:c.G110A:p.S37N;ENSG00000141644:ENST00000398493:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000398488:exon1:c.G110A:p.S37N;ENSG00000141644:ENST00000353909:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000339998:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000591416:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000269471:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000457839:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000590208:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000347968:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000382948:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000588937:exon1:c.G110A:p.S37N;ENSG00000141644:ENST00000349085:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000436910:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000269468:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000398495:exon1:c.G110A:p.S37N;ENSG00000141644:ENST00000585672:exon2:c.G110A:p.S37N;ENSG00000141644:ENST00000587605:exon2:c.G110A:p.S37N;	0.999995967723786	1.0
18	47806254	T	A	18	50279884	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon2:c.A109T:p.S37C;MBD1:NM_001204151:exon1:c.A109T:p.S37C;MBD1:NM_001204137:exon2:c.A109T:p.S37C;MBD1:NM_015845:exon2:c.A109T:p.S37C;MBD1:NM_001204142:exon2:c.A109T:p.S37C;MBD1:NM_001204143:exon2:c.A109T:p.S37C;MBD1:NM_001204138:exon2:c.A109T:p.S37C;MBD1:NM_015846:exon2:c.A109T:p.S37C;MBD1:NM_001204140:exon2:c.A109T:p.S37C;MBD1:NM_001204139:exon2:c.A109T:p.S37C;MBD1:NM_015844:exon2:c.A109T:p.S37C;MBD1:NM_001204136:exon2:c.A109T:p.S37C;MBD1:NM_015847:exon2:c.A109T:p.S37C;MBD1:NM_001204141:exon2:c.A109T:p.S37C;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000590215:exon2:c.A109T:p.R37W;ENSG00000141644:ENST00000424334:exon2:c.A187T:p.S63C;ENSG00000141644:ENST00000591535:exon1:c.A109T:p.S37C;ENSG00000141644:ENST00000398493:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000398488:exon1:c.A109T:p.S37C;ENSG00000141644:ENST00000353909:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000339998:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000591416:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000269471:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000457839:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000590208:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000347968:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000382948:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000588937:exon1:c.A109T:p.S37C;ENSG00000141644:ENST00000349085:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000436910:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000269468:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000398495:exon1:c.A109T:p.S37C;ENSG00000141644:ENST00000585672:exon2:c.A109T:p.S37C;ENSG00000141644:ENST00000587605:exon2:c.A109T:p.S37C;	0.999944783245678	0.978
18	47806254	T	C	18	50279884	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon2:c.A109G:p.S37G;MBD1:NM_001204151:exon1:c.A109G:p.S37G;MBD1:NM_001204137:exon2:c.A109G:p.S37G;MBD1:NM_015845:exon2:c.A109G:p.S37G;MBD1:NM_001204142:exon2:c.A109G:p.S37G;MBD1:NM_001204143:exon2:c.A109G:p.S37G;MBD1:NM_001204138:exon2:c.A109G:p.S37G;MBD1:NM_015846:exon2:c.A109G:p.S37G;MBD1:NM_001204140:exon2:c.A109G:p.S37G;MBD1:NM_001204139:exon2:c.A109G:p.S37G;MBD1:NM_015844:exon2:c.A109G:p.S37G;MBD1:NM_001204136:exon2:c.A109G:p.S37G;MBD1:NM_015847:exon2:c.A109G:p.S37G;MBD1:NM_001204141:exon2:c.A109G:p.S37G;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000590215:exon2:c.A109G:p.R37G;ENSG00000141644:ENST00000424334:exon2:c.A187G:p.S63G;ENSG00000141644:ENST00000591535:exon1:c.A109G:p.S37G;ENSG00000141644:ENST00000398493:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000398488:exon1:c.A109G:p.S37G;ENSG00000141644:ENST00000353909:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000339998:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000591416:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000269471:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000457839:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000590208:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000347968:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000382948:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000588937:exon1:c.A109G:p.S37G;ENSG00000141644:ENST00000349085:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000436910:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000269468:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000398495:exon1:c.A109G:p.S37G;ENSG00000141644:ENST00000585672:exon2:c.A109G:p.S37G;ENSG00000141644:ENST00000587605:exon2:c.A109G:p.S37G;	0.999949189067422	0.982
18	47806254	T	G	18	50279884	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon2:c.A109C:p.S37R;MBD1:NM_001204151:exon1:c.A109C:p.S37R;MBD1:NM_001204137:exon2:c.A109C:p.S37R;MBD1:NM_015845:exon2:c.A109C:p.S37R;MBD1:NM_001204142:exon2:c.A109C:p.S37R;MBD1:NM_001204143:exon2:c.A109C:p.S37R;MBD1:NM_001204138:exon2:c.A109C:p.S37R;MBD1:NM_015846:exon2:c.A109C:p.S37R;MBD1:NM_001204140:exon2:c.A109C:p.S37R;MBD1:NM_001204139:exon2:c.A109C:p.S37R;MBD1:NM_015844:exon2:c.A109C:p.S37R;MBD1:NM_001204136:exon2:c.A109C:p.S37R;MBD1:NM_015847:exon2:c.A109C:p.S37R;MBD1:NM_001204141:exon2:c.A109C:p.S37R;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000424334:exon2:c.A187C:p.S63R;ENSG00000141644:ENST00000591535:exon1:c.A109C:p.S37R;ENSG00000141644:ENST00000398493:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000398488:exon1:c.A109C:p.S37R;ENSG00000141644:ENST00000353909:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000339998:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000591416:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000269471:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000457839:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000590208:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000347968:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000382948:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000588937:exon1:c.A109C:p.S37R;ENSG00000141644:ENST00000349085:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000436910:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000269468:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000398495:exon1:c.A109C:p.S37R;ENSG00000141644:ENST00000585672:exon2:c.A109C:p.S37R;ENSG00000141644:ENST00000587605:exon2:c.A109C:p.S37R;	0.999869011677463	0.994
18	47806255	C	A	18	50279885	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon2:c.G108T:p.Q36H;MBD1:NM_001204151:exon1:c.G108T:p.Q36H;MBD1:NM_001204137:exon2:c.G108T:p.Q36H;MBD1:NM_015845:exon2:c.G108T:p.Q36H;MBD1:NM_001204142:exon2:c.G108T:p.Q36H;MBD1:NM_001204143:exon2:c.G108T:p.Q36H;MBD1:NM_001204138:exon2:c.G108T:p.Q36H;MBD1:NM_015846:exon2:c.G108T:p.Q36H;MBD1:NM_001204140:exon2:c.G108T:p.Q36H;MBD1:NM_001204139:exon2:c.G108T:p.Q36H;MBD1:NM_015844:exon2:c.G108T:p.Q36H;MBD1:NM_001204136:exon2:c.G108T:p.Q36H;MBD1:NM_015847:exon2:c.G108T:p.Q36H;MBD1:NM_001204141:exon2:c.G108T:p.Q36H;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000590215:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000424334:exon2:c.G186T:p.Q62H;ENSG00000141644:ENST00000591535:exon1:c.G108T:p.Q36H;ENSG00000141644:ENST00000398493:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000398488:exon1:c.G108T:p.Q36H;ENSG00000141644:ENST00000353909:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000339998:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000591416:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000269471:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000457839:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000590208:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000347968:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000382948:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000588937:exon1:c.G108T:p.Q36H;ENSG00000141644:ENST00000349085:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000436910:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000269468:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000398495:exon1:c.G108T:p.Q36H;ENSG00000141644:ENST00000585672:exon2:c.G108T:p.Q36H;ENSG00000141644:ENST00000587605:exon2:c.G108T:p.Q36H;	0.78020155206099	0.528
18	47806255	C	G	18	50279885	y	y	exonic	MBD1	nonsynonymous SNV	MBD1:NM_002384:exon2:c.G108C:p.Q36H;MBD1:NM_001204151:exon1:c.G108C:p.Q36H;MBD1:NM_001204137:exon2:c.G108C:p.Q36H;MBD1:NM_015845:exon2:c.G108C:p.Q36H;MBD1:NM_001204142:exon2:c.G108C:p.Q36H;MBD1:NM_001204143:exon2:c.G108C:p.Q36H;MBD1:NM_001204138:exon2:c.G108C:p.Q36H;MBD1:NM_015846:exon2:c.G108C:p.Q36H;MBD1:NM_001204140:exon2:c.G108C:p.Q36H;MBD1:NM_001204139:exon2:c.G108C:p.Q36H;MBD1:NM_015844:exon2:c.G108C:p.Q36H;MBD1:NM_001204136:exon2:c.G108C:p.Q36H;MBD1:NM_015847:exon2:c.G108C:p.Q36H;MBD1:NM_001204141:exon2:c.G108C:p.Q36H;	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000590215:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000424334:exon2:c.G186C:p.Q62H;ENSG00000141644:ENST00000591535:exon1:c.G108C:p.Q36H;ENSG00000141644:ENST00000398493:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000398488:exon1:c.G108C:p.Q36H;ENSG00000141644:ENST00000353909:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000339998:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000591416:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000269471:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000457839:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000590208:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000347968:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000382948:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000588937:exon1:c.G108C:p.Q36H;ENSG00000141644:ENST00000349085:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000436910:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000269468:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000398495:exon1:c.G108C:p.Q36H;ENSG00000141644:ENST00000585672:exon2:c.G108C:p.Q36H;ENSG00000141644:ENST00000587605:exon2:c.G108C:p.Q36H;	0.547912907772902	0.558
18	47806255	C	T	18	50279885	y	y	exonic	MBD1	synonymous SNV	MBD1:NM_002384:exon2:c.G108A:p.Q36Q;MBD1:NM_001204151:exon1:c.G108A:p.Q36Q;MBD1:NM_001204137:exon2:c.G108A:p.Q36Q;MBD1:NM_015845:exon2:c.G108A:p.Q36Q;MBD1:NM_001204142:exon2:c.G108A:p.Q36Q;MBD1:NM_001204143:exon2:c.G108A:p.Q36Q;MBD1:NM_001204138:exon2:c.G108A:p.Q36Q;MBD1:NM_015846:exon2:c.G108A:p.Q36Q;MBD1:NM_001204140:exon2:c.G108A:p.Q36Q;MBD1:NM_001204139:exon2:c.G108A:p.Q36Q;MBD1:NM_015844:exon2:c.G108A:p.Q36Q;MBD1:NM_001204136:exon2:c.G108A:p.Q36Q;MBD1:NM_015847:exon2:c.G108A:p.Q36Q;MBD1:NM_001204141:exon2:c.G108A:p.Q36Q;	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000585595:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000590215:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000424334:exon2:c.G186A:p.Q62Q;ENSG00000141644:ENST00000591535:exon1:c.G108A:p.Q36Q;ENSG00000141644:ENST00000398493:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000398488:exon1:c.G108A:p.Q36Q;ENSG00000141644:ENST00000353909:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000339998:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000591416:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000269471:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000457839:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000590208:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000347968:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000382948:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000588937:exon1:c.G108A:p.Q36Q;ENSG00000141644:ENST00000349085:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000436910:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000269468:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000398495:exon1:c.G108A:p.Q36Q;ENSG00000141644:ENST00000585672:exon2:c.G108A:p.Q36Q;ENSG00000141644:ENST00000587605:exon2:c.G108A:p.Q36Q;	0.00468385436344756	0.078
18	47806386	G	A	18	50280016	y	y	UTR5	MBD1	.	.	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000424334:exon2:c.C55T:p.L19L;	0.00436305543424322	0.02
18	47806386	G	C	18	50280016	y	y	UTR5	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon2:c.C55G:p.L19V;	0.00110773174602144	0.028
18	47806386	G	T	18	50280016	y	y	UTR5	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon2:c.C55A:p.L19I;	0.0031886886134029	0.018
18	47806387	C	A	18	50280017	y	y	UTR5	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon2:c.G54T:p.R18S;	0.982954776992362	0.89
18	47806387	C	G	18	50280017	y	y	UTR5	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon2:c.G54C:p.R18S;	0.904501019683216	0.85
18	47806387	C	T	18	50280017	y	y	UTR5	MBD1	.	.	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000424334:exon2:c.G54A:p.R18R;	0.350585012133705	0.414
18	47806388	C	A	18	50280018	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon3:c.54-1G>T)	.	.	0.999966514958823	0.94
18	47806388	C	G	18	50280018	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon3:c.54-1G>C)	.	.	0.999966514958823	0.938
18	47806388	C	T	18	50280018	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon3:c.54-1G>A)	.	.	0.999966514958823	0.942
18	47806389	T	A	18	50280019	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon3:c.54-2A>T)	.	.	0.999985353572514	0.854
18	47806389	T	C	18	50280019	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon3:c.54-2A>G)	.	.	0.99998382861657	0.864
18	47806389	T	G	18	50280019	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon3:c.54-2A>C)	.	.	0.99998382861657	0.862
18	47806390	G	A	18	50280020	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.081815596698259	0.156
18	47806390	G	C	18	50280020	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.996223874265836	0.91
18	47806390	G	T	18	50280020	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.852139293983441	0.606
18	47806391	A	C	18	50280021	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	3.07256548728156E-5	0.0
18	47806391	A	G	18	50280021	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.23446996518909E-5	0.002
18	47806391	A	T	18	50280021	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.9842078666241E-5	0.0
18	47806392	A	C	18	50280022	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.100554143655978	0.3
18	47806392	A	G	18	50280022	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00186976226795047	0.07
18	47806392	A	T	18	50280022	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0347389902603488	0.312
18	47806393	A	C	18	50280023	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0202377946179568	0.232
18	47806393	A	G	18	50280023	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00730630813124387	0.078
18	47806393	A	T	18	50280023	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0176725305426977	0.194
18	47806394	G	A	18	50280024	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.97286139442525E-5	0.002
18	47806394	G	C	18	50280024	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00388152781219058	0.068
18	47806394	G	T	18	50280024	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00284388904827474	0.046
18	47806395	G	A	18	50280025	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.18457567868597E-5	0.0
18	47806395	G	C	18	50280025	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.11441502945323E-4	0.012
18	47806395	G	T	18	50280025	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.62221158931102E-4	0.008
18	47806396	G	A	18	50280026	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.683129006991E-5	0.0
18	47806396	G	C	18	50280026	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.71714847557596E-4	0.114
18	47806396	G	T	18	50280026	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00143212296376095	0.126
18	47806397	G	A	18	50280027	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.92017314592258E-5	0.0
18	47806397	G	C	18	50280027	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.26632280240647E-4	0.034
18	47806397	G	T	18	50280027	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.08217766252606E-4	0.07
18	47806398	G	A	18	50280028	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.03322689699475E-5	0.004
18	47806398	G	C	18	50280028	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99967753099545	0.972
18	47806398	G	T	18	50280028	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00172645760041066	0.09
18	47806399	T	A	18	50280029	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	6.35043891019427E-5	0.006
18	47806399	T	C	18	50280029	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	8.33113207550536E-5	0.004
18	47806399	T	G	18	50280029	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.98083973062458E-5	0.0
18	47807526	A	C	18	50281156	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.60188305108831E-4	0.0
18	47807526	A	G	18	50281156	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.60188305108831E-4	0.0
18	47807526	A	T	18	50281156	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.91605004066199E-4	0.0
18	47807527	C	A	18	50281157	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.91335385279169E-4	0.0
18	47807527	C	G	18	50281157	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.69968134076753E-4	0.0
18	47807527	C	T	18	50281157	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	7.91335385279169E-4	0.0
18	47807528	T	A	18	50281158	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.91605004066199E-4	0.0
18	47807528	T	C	18	50281158	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.19834110641086E-4	0.0
18	47807528	T	G	18	50281158	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.19834110641086E-4	0.0
18	47807529	C	A	18	50281159	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.28522395021361E-4	0.028
18	47807529	C	G	18	50281159	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.49032357932809E-4	0.004
18	47807529	C	T	18	50281159	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.28522395021361E-4	0.016
18	47807530	C	A	18	50281160	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00234954535167801	0.044
18	47807530	C	G	18	50281160	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00234954535167801	0.036
18	47807530	C	T	18	50281160	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.00234954535167801	0.064
18	47807531	T	A	18	50281161	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	9.29041425055355E-5	0.004
18	47807531	T	C	18	50281161	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.02056512274483E-4	0.002
18	47807531	T	G	18	50281161	n	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.02056512274483E-4	0.004
18	47807532	A	C	18	50281162	n	y	intronic	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon2:c.53+2T>G)	.	.	0.0187185716673263	0.224
18	47807532	A	G	18	50281162	n	y	intronic	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon2:c.53+2T>C)	.	.	0.0187185716673263	0.224
18	47807532	A	T	18	50281162	n	y	intronic	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon2:c.53+2T>A)	.	.	0.0311596788247052	0.256
18	47807533	C	A	18	50281163	n	y	intronic	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon2:c.53+1G>T)	.	.	6.54601864068437E-5	0.0
18	47807533	C	G	18	50281163	n	y	intronic	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon2:c.53+1G>C)	.	.	6.54601864068437E-5	0.0
18	47807533	C	T	18	50281163	n	y	intronic	MBD1	.	.	splicing	ENSG00000141644(ENST00000424334:exon2:c.53+1G>A)	.	.	6.54601864068437E-5	0.0
18	47807534	C	A	18	50281164	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.G53T:p.R18M;	0.0094629338859028	0.146
18	47807534	C	G	18	50281164	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.G53C:p.R18T;	0.00689905221577713	0.148
18	47807534	C	T	18	50281164	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.G53A:p.R18K;	0.0139095873601686	0.198
18	47807535	T	A	18	50281165	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.A52T:p.R18W;	0.0113856197503114	0.172
18	47807535	T	C	18	50281165	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.A52G:p.R18G;	0.00863288288024068	0.14
18	47807535	T	G	18	50281165	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.A52C:p.R18R;	0.00169968517090812	0.058
18	47807536	G	A	18	50281166	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	synonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.C51T:p.D17D;	0.00220285109689569	0.108
18	47807536	G	C	18	50281166	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.C51G:p.D17E;	0.0069180409540431	0.048
18	47807536	G	T	18	50281166	n	y	intronic	MBD1	.	.	exonic	ENSG00000141644	nonsynonymous SNV	ENSG00000141644:ENST00000424334:exon1:c.C51A:p.D17E;	0.0069180409540431	0.054
18	47807725	T	A	18	50281355	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.73314997541658E-4	0.004
18	47807725	T	C	18	50281355	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.73314997541658E-4	0.0
18	47807725	T	G	18	50281355	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	5.23029867154468E-4	0.0
18	47807726	G	A	18	50281356	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	2.93490022378723E-4	0.144
18	47807726	G	C	18	50281356	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	1.40773367033308E-4	0.0
18	47807726	G	T	18	50281356	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	4.36647886088347E-4	0.004
18	47807727	T	A	18	50281357	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.115022018846961	0.54
18	47807727	T	C	18	50281357	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.0615018521537356	0.454
18	47807727	T	G	18	50281357	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.434079748145204	0.564
18	47807728	C	A	18	50281358	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999968397089545	0.916
18	47807728	C	G	18	50281358	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999951159651455	0.996
18	47807728	C	T	18	50281358	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999954630108131	0.998
18	47807729	T	A	18	50281359	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.999296674458713	0.936
18	47807729	T	C	18	50281359	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.99712747261443	0.934
18	47807729	T	G	18	50281359	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.998330842470658	0.916
18	47807730	C	A	18	50281360	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.998919924805762	0.878
18	47807730	C	G	18	50281360	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.998961383283806	0.91
18	47807730	C	T	18	50281360	y	y	intronic	MBD1	.	.	intronic	ENSG00000141644	.	.	0.181614284968627	0.536
18	47807731	A	C	18	50281361	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	0.999990155693597	0.926
18	47807731	A	G	18	50281361	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	0.999980981844993	0.932
18	47807731	A	T	18	50281361	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	0.999990155693597	0.926
18	47807732	C	A	18	50281362	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	0.999976137096505	0.928
18	47807732	C	G	18	50281362	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	0.999976137096505	0.926
18	47807732	C	T	18	50281362	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	0.999976137096505	0.924
18	47807733	C	A	18	50281363	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.999907764280264	0.972
18	47807733	C	G	18	50281363	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.999962023321039	0.998
18	47807733	C	T	18	50281363	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.999884588267887	1.0
18	47807734	A	C	18	50281364	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	6.45080385525904E-4	0.054
18	47807734	A	G	18	50281364	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.00226372039643416	0.058
18	47807734	A	T	18	50281364	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.00156868997116294	0.228
18	47807735	G	A	18	50281365	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.92018760430255	0.728
18	47807735	G	C	18	50281365	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.204179379391803	0.358
18	47807735	G	T	18	50281365	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.0305896901318045	0.254
18	47807937	C	A	18	50281567	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	4.04701645548368E-5	0.014
18	47807937	C	G	18	50281567	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	3.55183766894313E-5	0.012
18	47807937	C	T	18	50281567	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	4.04701645548368E-5	0.014
18	47807938	T	A	18	50281568	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	8.53292460361593E-5	0.01
18	47807938	T	C	18	50281568	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	4.10529984002121E-5	0.01
18	47807938	T	G	18	50281568	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	4.10529984002121E-5	0.01
18	47807939	A	C	18	50281569	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	6.26007143607885E-5	0.006
18	47807939	A	G	18	50281569	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	6.26007143607885E-5	0.006
18	47807939	A	T	18	50281569	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	6.26007143607885E-5	0.014
18	47807940	A	C	18	50281570	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	4.14301101535901E-5	0.0
18	47807940	A	G	18	50281570	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	4.14301101535901E-5	0.0
18	47807940	A	T	18	50281570	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	4.14301101535901E-5	0.0
18	47807941	G	A	18	50281571	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	2.05567792764038E-5	0.016
18	47807941	G	C	18	50281571	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	2.74891647094722E-5	0.006
18	47807941	G	T	18	50281571	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	2.74891647094722E-5	0.008
18	47807942	C	A	18	50281572	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.00129206964182575	0.02
18	47807942	C	G	18	50281572	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.00129206964182575	0.02
18	47807942	C	T	18	50281572	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	0.00129206964182575	0.02
18	47807943	A	C	18	50281573	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	6.91564032431422E-5	0.0
18	47807943	A	G	18	50281573	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	3.15267776820636E-5	0.0
18	47807943	A	T	18	50281573	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	3.15267776820636E-5	0.0
18	47807944	C	A	18	50281574	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	2.81562738340012E-4	0.014
18	47807944	C	G	18	50281574	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	1.51778255149838E-4	0.014
18	47807944	C	T	18	50281574	y	y	splicing	MBD1	.	.	splicing	ENSG00000141644	.	.	2.81562738340012E-4	0.014
18	47807945	C	A	18	50281575	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	2.81562738340012E-4	0.006
18	47807945	C	G	18	50281575	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	1.51778255149838E-4	0.008
18	47807945	C	T	18	50281575	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	2.81562738340012E-4	0.006
18	47807946	T	A	18	50281576	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	1.30961459151587E-4	0.024
18	47807946	T	C	18	50281576	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	1.30961459151587E-4	0.024
18	47807946	T	G	18	50281576	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	1.30961459151587E-4	0.024
18	47807947	G	A	18	50281577	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	2.81562738340012E-4	0.0
18	47807947	G	C	18	50281577	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	1.51778255149838E-4	0.0
18	47807947	G	T	18	50281577	y	y	UTR5	MBD1	.	.	UTR5	ENSG00000141644	.	.	2.81562738340012E-4	0.0
18	47809108	C	A	18	50282738	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon15:c.G1838T:p.W613L;CXXC1:NM_014593:exon15:c.G1826T:p.W609L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon15:c.G1789T:p.G597C;ENSG00000154832:ENST00000412036:exon15:c.G1838T:p.W613L;ENSG00000154832:ENST00000285106:exon15:c.G1826T:p.W609L;	0.86353977807966	0.786
18	47809108	C	G	18	50282738	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon15:c.G1838C:p.W613S;CXXC1:NM_014593:exon15:c.G1826C:p.W609S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon15:c.G1789C:p.G597R;ENSG00000154832:ENST00000412036:exon15:c.G1838C:p.W613S;ENSG00000154832:ENST00000285106:exon15:c.G1826C:p.W609S;	0.896031385491909	0.832
18	47809108	C	T	18	50282738	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon15:c.G1838A:p.W613X;CXXC1:NM_014593:exon15:c.G1826A:p.W609X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000412036:exon15:c.G1838A:p.W613X;ENSG00000154832:ENST00000285106:exon15:c.G1826A:p.W609X;	0.907255046171018	0.928
18	47809109	A	C	18	50282739	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon15:c.T1837G:p.W613G;CXXC1:NM_014593:exon15:c.T1825G:p.W609G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon15:c.T1788G:p.C596W;ENSG00000154832:ENST00000412036:exon15:c.T1837G:p.W613G;ENSG00000154832:ENST00000285106:exon15:c.T1825G:p.W609G;	0.431635609429921	0.612
18	47809109	A	G	18	50282739	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon15:c.T1837C:p.W613R;CXXC1:NM_014593:exon15:c.T1825C:p.W609R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon15:c.T1837C:p.W613R;ENSG00000154832:ENST00000285106:exon15:c.T1825C:p.W609R;	0.509169970029581	0.648
18	47809109	A	T	18	50282739	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon15:c.T1837A:p.W613R;CXXC1:NM_014593:exon15:c.T1825A:p.W609R;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000589940:exon15:c.T1788A:p.C596X;	0.509169970029581	0.644
18	47809110	C	A	18	50282740	y	y	splicing	CXXC1(NM_014593:exon16:c.1825-1G>T;NM_001101654:exon16:c.1837-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon16:c.1825-1G>T;ENST00000412036:exon16:c.1837-1G>T;ENST00000589940:exon16:c.1788-1G>T)	.	.	0.999984967332678	0.948
18	47809110	C	G	18	50282740	y	y	splicing	CXXC1(NM_014593:exon16:c.1825-1G>C;NM_001101654:exon16:c.1837-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon16:c.1825-1G>C;ENST00000412036:exon16:c.1837-1G>C;ENST00000589940:exon16:c.1788-1G>C)	.	.	0.999984967332678	0.948
18	47809110	C	T	18	50282740	y	y	splicing	CXXC1(NM_014593:exon16:c.1825-1G>A;NM_001101654:exon16:c.1837-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon16:c.1825-1G>A;ENST00000412036:exon16:c.1837-1G>A;ENST00000589940:exon16:c.1788-1G>A)	.	.	0.999984967332678	0.948
18	47809111	T	A	18	50282741	y	y	splicing	CXXC1(NM_014593:exon16:c.1825-2A>T;NM_001101654:exon16:c.1837-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon16:c.1825-2A>T;ENST00000412036:exon16:c.1837-2A>T;ENST00000589940:exon16:c.1788-2A>T)	.	.	0.999988893522493	0.944
18	47809111	T	C	18	50282741	y	y	splicing	CXXC1(NM_014593:exon16:c.1825-2A>G;NM_001101654:exon16:c.1837-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon16:c.1825-2A>G;ENST00000412036:exon16:c.1837-2A>G;ENST00000589940:exon16:c.1788-2A>G)	.	.	0.999988893522493	0.944
18	47809111	T	G	18	50282741	y	y	splicing	CXXC1(NM_014593:exon16:c.1825-2A>C;NM_001101654:exon16:c.1837-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon16:c.1825-2A>C;ENST00000412036:exon16:c.1837-2A>C;ENST00000589940:exon16:c.1788-2A>C)	.	.	0.999988893522493	0.944
18	47809112	G	A	18	50282742	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.523894682703403	0.478
18	47809112	G	C	18	50282742	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999980559117001	0.964
18	47809112	G	T	18	50282742	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.989127969048402	0.892
18	47809113	C	A	18	50282743	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.19822057903476E-4	0.026
18	47809113	C	G	18	50282743	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.19822057903476E-4	0.018
18	47809113	C	T	18	50282743	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00107521596927518	0.046
18	47809114	C	A	18	50282744	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.02141852221052E-4	0.008
18	47809114	C	G	18	50282744	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.47070192602407E-5	0.012
18	47809114	C	T	18	50282744	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.815541640778159	0.608
18	47809115	A	C	18	50282745	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00422375253347906	0.324
18	47809115	A	G	18	50282745	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.31044639086241E-5	0.06
18	47809115	A	T	18	50282745	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999308233949407	0.842
18	47809116	A	C	18	50282746	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00120886280726307	0.092
18	47809116	A	G	18	50282746	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.34044012440243E-5	0.004
18	47809116	A	T	18	50282746	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.01315789432916E-4	0.104
18	47809117	G	A	18	50282747	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.65371815198265E-5	0.006
18	47809117	G	C	18	50282747	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.45696405555204E-4	0.096
18	47809117	G	T	18	50282747	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.59443831072941E-4	0.1
18	47809118	G	A	18	50282748	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.45277156108894E-5	0.0
18	47809118	G	C	18	50282748	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.03631540124218E-4	0.012
18	47809118	G	T	18	50282748	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.2624366683675E-4	0.032
18	47809119	G	A	18	50282749	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.77281538579013E-5	0.004
18	47809119	G	C	18	50282749	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.2917173732937E-4	0.05
18	47809119	G	T	18	50282749	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.45386515276175E-4	0.058
18	47809120	A	C	18	50282750	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.758817488509545	0.558
18	47809120	A	G	18	50282750	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00382118122379404	0.332
18	47809120	A	T	18	50282750	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.910173376966131	0.6
18	47809121	G	A	18	50282751	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.57224415015791E-5	0.0
18	47809121	G	C	18	50282751	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.32172866433546E-4	0.064
18	47809121	G	T	18	50282751	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.54437198681863E-4	0.064
18	47809216	A	C	18	50282846	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.25666866588399E-5	0.006
18	47809216	A	G	18	50282846	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.34303586711381E-5	0.02
18	47809216	A	T	18	50282846	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.94420342022403E-5	0.002
18	47809217	A	C	18	50282847	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.14505838604605E-5	0.012
18	47809217	A	G	18	50282847	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.14505838604605E-5	0.014
18	47809217	A	T	18	50282847	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.14505838604605E-5	0.014
18	47809218	A	C	18	50282848	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.780412988106742	0.64
18	47809218	A	G	18	50282848	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.398753431615031	0.522
18	47809218	A	T	18	50282848	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.405759104394018	0.492
18	47809219	C	A	18	50282849	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999953806068766	0.972
18	47809219	C	G	18	50282849	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999981372037874	0.972
18	47809219	C	T	18	50282849	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999957665121321	0.976
18	47809220	C	A	18	50282850	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00209813783677655	0.106
18	47809220	C	G	18	50282850	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00347377685877761	0.22
18	47809220	C	T	18	50282850	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00248654977046397	0.08
18	47809221	T	A	18	50282851	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.989233987050805	0.792
18	47809221	T	C	18	50282851	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.757964745944974	0.656
18	47809221	T	G	18	50282851	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.997548070041224	0.852
18	47809222	A	C	18	50282852	y	y	splicing	CXXC1(NM_014593:exon15:c.1824+2T>G;NM_001101654:exon15:c.1836+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1824+2T>G;ENST00000412036:exon15:c.1836+2T>G;ENST00000589940:exon15:c.1787+2T>G)	.	.	0.999982740057158	0.914
18	47809222	A	G	18	50282852	y	y	splicing	CXXC1(NM_014593:exon15:c.1824+2T>C;NM_001101654:exon15:c.1836+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1824+2T>C;ENST00000412036:exon15:c.1836+2T>C;ENST00000589940:exon15:c.1787+2T>C)	.	.	0.960430425310056	0.652
18	47809222	A	T	18	50282852	y	y	splicing	CXXC1(NM_014593:exon15:c.1824+2T>A;NM_001101654:exon15:c.1836+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1824+2T>A;ENST00000412036:exon15:c.1836+2T>A;ENST00000589940:exon15:c.1787+2T>A)	.	.	0.999982740057158	0.914
18	47809223	C	A	18	50282853	y	y	splicing	CXXC1(NM_014593:exon15:c.1824+1G>T;NM_001101654:exon15:c.1836+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1824+1G>T;ENST00000412036:exon15:c.1836+1G>T;ENST00000589940:exon15:c.1787+1G>T)	.	.	0.999976638640456	0.914
18	47809223	C	G	18	50282853	y	y	splicing	CXXC1(NM_014593:exon15:c.1824+1G>C;NM_001101654:exon15:c.1836+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1824+1G>C;ENST00000412036:exon15:c.1836+1G>C;ENST00000589940:exon15:c.1787+1G>C)	.	.	0.999976638640456	0.914
18	47809223	C	T	18	50282853	y	y	splicing	CXXC1(NM_014593:exon15:c.1824+1G>A;NM_001101654:exon15:c.1836+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1824+1G>A;ENST00000412036:exon15:c.1836+1G>A;ENST00000589940:exon15:c.1787+1G>A)	.	.	0.999976638640456	0.914
18	47809224	C	A	18	50282854	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon14:c.G1836T:p.V612V;CXXC1:NM_014593:exon14:c.G1824T:p.V608V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.G1787T:p.C596F;	0.999882856825873	0.992
18	47809224	C	G	18	50282854	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon14:c.G1836C:p.V612V;CXXC1:NM_014593:exon14:c.G1824C:p.V608V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.G1787C:p.C596S;	0.999961532620173	0.984
18	47809224	C	T	18	50282854	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon14:c.G1836A:p.V612V;CXXC1:NM_014593:exon14:c.G1824A:p.V608V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.G1787A:p.C596Y;	0.999874114622901	0.988
18	47809225	A	C	18	50282855	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.T1835G:p.V612G;CXXC1:NM_014593:exon14:c.T1823G:p.V608G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.T1786G:p.C596G;ENSG00000154832:ENST00000412036:exon14:c.T1835G:p.V612G;ENSG00000154832:ENST00000285106:exon14:c.T1823G:p.V608G;	0.880492405413013	0.754
18	47809225	A	G	18	50282855	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.T1835C:p.V612A;CXXC1:NM_014593:exon14:c.T1823C:p.V608A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.T1786C:p.C596R;ENSG00000154832:ENST00000412036:exon14:c.T1835C:p.V612A;ENSG00000154832:ENST00000285106:exon14:c.T1823C:p.V608A;	0.0195126141899518	0.276
18	47809225	A	T	18	50282855	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.T1835A:p.V612E;CXXC1:NM_014593:exon14:c.T1823A:p.V608E;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.T1786A:p.C596S;ENSG00000154832:ENST00000412036:exon14:c.T1835A:p.V612E;ENSG00000154832:ENST00000285106:exon14:c.T1823A:p.V608E;	0.432368164815896	0.65
18	47809226	C	A	18	50282856	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.G1834T:p.V612L;CXXC1:NM_014593:exon14:c.G1822T:p.V608L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon14:c.G1834T:p.V612L;ENSG00000154832:ENST00000285106:exon14:c.G1822T:p.V608L;	0.0100101003444523	0.242
18	47809226	C	G	18	50282856	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.G1834C:p.V612L;CXXC1:NM_014593:exon14:c.G1822C:p.V608L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon14:c.G1834C:p.V612L;ENSG00000154832:ENST00000285106:exon14:c.G1822C:p.V608L;	0.00584783596304169	0.038
18	47809226	C	T	18	50282856	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.G1834A:p.V612M;CXXC1:NM_014593:exon14:c.G1822A:p.V608M;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon14:c.G1834A:p.V612M;ENSG00000154832:ENST00000285106:exon14:c.G1822A:p.V608M;	0.86353977807966	0.786
18	47809375	A	C	18	50283005	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.T1685G:p.V562G;CXXC1:NM_014593:exon14:c.T1673G:p.V558G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.T1636G:p.C546G;ENSG00000154832:ENST00000412036:exon14:c.T1685G:p.V562G;ENSG00000154832:ENST00000285106:exon14:c.T1673G:p.V558G;	0.423095093862753	0.602
18	47809375	A	G	18	50283005	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.T1685C:p.V562A;CXXC1:NM_014593:exon14:c.T1673C:p.V558A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.T1636C:p.C546R;ENSG00000154832:ENST00000412036:exon14:c.T1685C:p.V562A;ENSG00000154832:ENST00000285106:exon14:c.T1673C:p.V558A;	0.0278160265404707	0.284
18	47809375	A	T	18	50283005	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.T1685A:p.V562E;CXXC1:NM_014593:exon14:c.T1673A:p.V558E;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.T1636A:p.C546S;ENSG00000154832:ENST00000412036:exon14:c.T1685A:p.V562E;ENSG00000154832:ENST00000285106:exon14:c.T1673A:p.V558E;	0.423095093862753	0.602
18	47809376	C	A	18	50283006	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.G1684T:p.V562L;CXXC1:NM_014593:exon14:c.G1672T:p.V558L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.G1635T:p.K545N;ENSG00000154832:ENST00000412036:exon14:c.G1684T:p.V562L;ENSG00000154832:ENST00000285106:exon14:c.G1672T:p.V558L;	0.998846561265239	0.966
18	47809376	C	G	18	50283006	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.G1684C:p.V562L;CXXC1:NM_014593:exon14:c.G1672C:p.V558L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon14:c.G1635C:p.K545N;ENSG00000154832:ENST00000412036:exon14:c.G1684C:p.V562L;ENSG00000154832:ENST00000285106:exon14:c.G1672C:p.V558L;	0.997110309714816	0.894
18	47809376	C	T	18	50283006	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon14:c.G1684A:p.V562M;CXXC1:NM_014593:exon14:c.G1672A:p.V558M;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon14:c.G1684A:p.V562M;ENSG00000154832:ENST00000285106:exon14:c.G1672A:p.V558M;	0.86486404237844	0.698
18	47809377	C	A	18	50283007	y	y	splicing	CXXC1(NM_014593:exon15:c.1672-1G>T;NM_001101654:exon15:c.1684-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1672-1G>T;ENST00000412036:exon15:c.1684-1G>T;ENST00000589940:exon15:c.1635-1G>T)	.	.	0.999986903042585	0.926
18	47809377	C	G	18	50283007	y	y	splicing	CXXC1(NM_014593:exon15:c.1672-1G>C;NM_001101654:exon15:c.1684-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1672-1G>C;ENST00000412036:exon15:c.1684-1G>C;ENST00000589940:exon15:c.1635-1G>C)	.	.	0.999986903042585	0.924
18	47809377	C	T	18	50283007	y	y	splicing	CXXC1(NM_014593:exon15:c.1672-1G>A;NM_001101654:exon15:c.1684-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1672-1G>A;ENST00000412036:exon15:c.1684-1G>A;ENST00000589940:exon15:c.1635-1G>A)	.	.	0.999986903042585	0.926
18	47809378	T	A	18	50283008	y	y	splicing	CXXC1(NM_014593:exon15:c.1672-2A>T;NM_001101654:exon15:c.1684-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1672-2A>T;ENST00000412036:exon15:c.1684-2A>T;ENST00000589940:exon15:c.1635-2A>T)	.	.	0.999978791067592	0.926
18	47809378	T	C	18	50283008	y	y	splicing	CXXC1(NM_014593:exon15:c.1672-2A>G;NM_001101654:exon15:c.1684-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1672-2A>G;ENST00000412036:exon15:c.1684-2A>G;ENST00000589940:exon15:c.1635-2A>G)	.	.	0.999978791067592	0.93
18	47809378	T	G	18	50283008	y	y	splicing	CXXC1(NM_014593:exon15:c.1672-2A>C;NM_001101654:exon15:c.1684-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon15:c.1672-2A>C;ENST00000412036:exon15:c.1684-2A>C;ENST00000589940:exon15:c.1635-2A>C)	.	.	0.999978791067592	0.93
18	47809379	G	A	18	50283009	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0439493444524693	0.294
18	47809379	G	C	18	50283009	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998966166568686	0.938
18	47809379	G	T	18	50283009	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.930017551152675	0.728
18	47809380	C	A	18	50283010	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.05543952876221E-4	0.02
18	47809380	C	G	18	50283010	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.05543952876221E-4	0.012
18	47809380	C	T	18	50283010	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.46980617378069E-4	0.014
18	47809381	A	C	18	50283011	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.463587894034807	0.466
18	47809381	A	G	18	50283011	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.18656233821281E-4	0.018
18	47809381	A	T	18	50283011	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999330842387936	0.92
18	47809382	A	C	18	50283012	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00908781254345156	0.21
18	47809382	A	G	18	50283012	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.76356765215431E-5	0.008
18	47809382	A	T	18	50283012	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00474979908274013	0.182
18	47809383	G	A	18	50283013	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.2784786607668E-5	0.07
18	47809383	G	C	18	50283013	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.04610419774733E-4	0.228
18	47809383	G	T	18	50283013	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.75725888889245E-4	0.208
18	47809384	G	A	18	50283014	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.98202603288988E-5	0.014
18	47809384	G	C	18	50283014	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.3852467180215E-4	0.11
18	47809384	G	T	18	50283014	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0011634676833161	0.086
18	47809385	A	C	18	50283015	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00190279615949664	0.172
18	47809385	A	G	18	50283015	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.90688230571858E-5	0.032
18	47809385	A	T	18	50283015	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0322557694355524	0.242
18	47809386	G	A	18	50283016	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.46145014450057E-5	0.268
18	47809386	G	C	18	50283016	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.40578918601785E-4	0.106
18	47809386	G	T	18	50283016	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.40837863824423E-4	0.106
18	47809387	G	A	18	50283017	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.89861551796331E-5	0.008
18	47809387	G	C	18	50283017	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.22507355943415E-4	0.008
18	47809387	G	T	18	50283017	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.88466202479675E-5	0.042
18	47809388	C	A	18	50283018	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.14331229462098E-5	0.056
18	47809388	C	G	18	50283018	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.25158798558732E-5	0.062
18	47809388	C	T	18	50283018	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.90543832948567E-5	0.046
18	47809627	A	C	18	50283257	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.03090879340716E-5	0.006
18	47809627	A	G	18	50283257	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.48367148474546E-5	0.004
18	47809627	A	T	18	50283257	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.14699844705673E-5	0.008
18	47809628	A	C	18	50283258	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.4243997895107E-5	0.012
18	47809628	A	G	18	50283258	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.4243997895107E-5	0.012
18	47809628	A	T	18	50283258	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.4243997895107E-5	0.012
18	47809629	C	A	18	50283259	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.57605104928232E-4	0.08
18	47809629	C	G	18	50283259	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.57123356397867E-5	0.02
18	47809629	C	T	18	50283259	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.00801083283516E-4	0.016
18	47809630	C	A	18	50283260	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999957892566854	0.94
18	47809630	C	G	18	50283260	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999387303199257	0.874
18	47809630	C	T	18	50283260	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999879774448549	0.906
18	47809631	T	A	18	50283261	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.991047965767533	0.692
18	47809631	T	C	18	50283261	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998043356972379	0.79
18	47809631	T	G	18	50283261	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.987677368772815	0.772
18	47809632	T	A	18	50283262	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998962244416794	0.894
18	47809632	T	C	18	50283262	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.692529510952321	0.394
18	47809632	T	G	18	50283262	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998949727235955	0.89
18	47809633	A	C	18	50283263	y	y	splicing	CXXC1(NM_014593:exon14:c.1671+2T>G;NM_001101654:exon14:c.1683+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1671+2T>G;ENST00000412036:exon14:c.1683+2T>G;ENST00000589940:exon14:c.1634+2T>G)	.	.	0.999980378146777	0.884
18	47809633	A	G	18	50283263	y	y	splicing	CXXC1(NM_014593:exon14:c.1671+2T>C;NM_001101654:exon14:c.1683+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1671+2T>C;ENST00000412036:exon14:c.1683+2T>C;ENST00000589940:exon14:c.1634+2T>C)	.	.	0.994674780240933	0.572
18	47809633	A	T	18	50283263	y	y	splicing	CXXC1(NM_014593:exon14:c.1671+2T>A;NM_001101654:exon14:c.1683+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1671+2T>A;ENST00000412036:exon14:c.1683+2T>A;ENST00000589940:exon14:c.1634+2T>A)	.	.	0.999980378146777	0.884
18	47809634	C	A	18	50283264	y	y	splicing	CXXC1(NM_014593:exon14:c.1671+1G>T;NM_001101654:exon14:c.1683+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1671+1G>T;ENST00000412036:exon14:c.1683+1G>T;ENST00000589940:exon14:c.1634+1G>T)	.	.	0.999993519952936	0.928
18	47809634	C	G	18	50283264	y	y	splicing	CXXC1(NM_014593:exon14:c.1671+1G>C;NM_001101654:exon14:c.1683+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1671+1G>C;ENST00000412036:exon14:c.1683+1G>C;ENST00000589940:exon14:c.1634+1G>C)	.	.	0.999993519952936	0.928
18	47809634	C	T	18	50283264	y	y	splicing	CXXC1(NM_014593:exon14:c.1671+1G>A;NM_001101654:exon14:c.1683+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1671+1G>A;ENST00000412036:exon14:c.1683+1G>A;ENST00000589940:exon14:c.1634+1G>A)	.	.	0.999993519952936	0.928
18	47809635	T	A	18	50283265	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.A1683T:p.K561N;CXXC1:NM_014593:exon13:c.A1671T:p.K557N;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon13:c.A1634T:p.K545M;ENSG00000154832:ENST00000412036:exon13:c.A1683T:p.K561N;ENSG00000154832:ENST00000285106:exon13:c.A1671T:p.K557N;	0.0107567598464331	0.188
18	47809635	T	C	18	50283265	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon13:c.A1683G:p.K561K;CXXC1:NM_014593:exon13:c.A1671G:p.K557K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon13:c.A1634G:p.K545R;	0.0049050870384824	0.248
18	47809635	T	G	18	50283265	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.A1683C:p.K561N;CXXC1:NM_014593:exon13:c.A1671C:p.K557N;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon13:c.A1634C:p.K545T;ENSG00000154832:ENST00000412036:exon13:c.A1683C:p.K561N;ENSG00000154832:ENST00000285106:exon13:c.A1671C:p.K557N;	0.00739645407884059	0.184
18	47809636	T	A	18	50283266	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.A1682T:p.K561I;CXXC1:NM_014593:exon13:c.A1670T:p.K557I;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000589940:exon13:c.A1633T:p.K545X;	0.999591538536274	0.918
18	47809636	T	C	18	50283266	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.A1682G:p.K561R;CXXC1:NM_014593:exon13:c.A1670G:p.K557R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon13:c.A1633G:p.K545E;ENSG00000154832:ENST00000412036:exon13:c.A1682G:p.K561R;ENSG00000154832:ENST00000285106:exon13:c.A1670G:p.K557R;	0.999049994754045	0.812
18	47809636	T	G	18	50283266	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.A1682C:p.K561T;CXXC1:NM_014593:exon13:c.A1670C:p.K557T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon13:c.A1633C:p.K545Q;ENSG00000154832:ENST00000412036:exon13:c.A1682C:p.K561T;ENSG00000154832:ENST00000285106:exon13:c.A1670C:p.K557T;	0.998914999374896	0.826
18	47809637	T	A	18	50283267	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon13:c.A1681T:p.K561X;CXXC1:NM_014593:exon13:c.A1669T:p.K557X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000412036:exon13:c.A1681T:p.K561X;ENSG00000154832:ENST00000285106:exon13:c.A1669T:p.K557X;	0.948867800630735	0.72
18	47809637	T	C	18	50283267	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.A1681G:p.K561E;CXXC1:NM_014593:exon13:c.A1669G:p.K557E;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon13:c.A1681G:p.K561E;ENSG00000154832:ENST00000285106:exon13:c.A1669G:p.K557E;	0.499699770597508	0.63
18	47809637	T	G	18	50283267	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.A1681C:p.K561Q;CXXC1:NM_014593:exon13:c.A1669C:p.K557Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon13:c.A1681C:p.K561Q;ENSG00000154832:ENST00000285106:exon13:c.A1669C:p.K557Q;	0.545358624091025	0.608
18	47809730	C	A	18	50283360	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.G1588T:p.A530S;CXXC1:NM_014593:exon13:c.G1576T:p.A526S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon13:c.G1588T:p.A530S;ENSG00000154832:ENST00000285106:exon13:c.G1576T:p.A526S;	0.839959774170821	0.716
18	47809730	C	G	18	50283360	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.G1588C:p.A530P;CXXC1:NM_014593:exon13:c.G1576C:p.A526P;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon13:c.G1588C:p.A530P;ENSG00000154832:ENST00000285106:exon13:c.G1576C:p.A526P;	0.822269160003651	0.756
18	47809730	C	T	18	50283360	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon13:c.G1588A:p.A530T;CXXC1:NM_014593:exon13:c.G1576A:p.A526T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000412036:exon13:c.G1588A:p.A530T;ENSG00000154832:ENST00000285106:exon13:c.G1576A:p.A526T;	0.874685087258236	0.756
18	47809731	C	A	18	50283361	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon13:c.G1587T:p.G529G;CXXC1:NM_014593:exon13:c.G1575T:p.G525G;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000412036:exon13:c.G1587T:p.G529G;ENSG00000154832:ENST00000285106:exon13:c.G1575T:p.G525G;	0.243115911869441	0.58
18	47809731	C	G	18	50283361	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon13:c.G1587C:p.G529G;CXXC1:NM_014593:exon13:c.G1575C:p.G525G;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000412036:exon13:c.G1587C:p.G529G;ENSG00000154832:ENST00000285106:exon13:c.G1575C:p.G525G;	0.0551877431247229	0.576
18	47809731	C	T	18	50283361	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon13:c.G1587A:p.G529G;CXXC1:NM_014593:exon13:c.G1575A:p.G525G;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000412036:exon13:c.G1587A:p.G529G;ENSG00000154832:ENST00000285106:exon13:c.G1575A:p.G525G;	0.0452141020706789	0.364
18	47809732	C	A	18	50283362	y	y	splicing	CXXC1(NM_014593:exon14:c.1575-1G>T;NM_001101654:exon14:c.1587-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1575-1G>T;ENST00000412036:exon14:c.1587-1G>T)	.	.	0.999986741007567	0.944
18	47809732	C	G	18	50283362	y	y	splicing	CXXC1(NM_014593:exon14:c.1575-1G>C;NM_001101654:exon14:c.1587-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1575-1G>C;ENST00000412036:exon14:c.1587-1G>C)	.	.	0.999986741007567	0.944
18	47809732	C	T	18	50283362	y	y	splicing	CXXC1(NM_014593:exon14:c.1575-1G>A;NM_001101654:exon14:c.1587-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1575-1G>A;ENST00000412036:exon14:c.1587-1G>A)	.	.	0.999986741007567	0.944
18	47809733	T	A	18	50283363	y	y	splicing	CXXC1(NM_014593:exon14:c.1575-2A>T;NM_001101654:exon14:c.1587-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1575-2A>T;ENST00000412036:exon14:c.1587-2A>T)	.	.	0.999992861718126	0.938
18	47809733	T	C	18	50283363	y	y	splicing	CXXC1(NM_014593:exon14:c.1575-2A>G;NM_001101654:exon14:c.1587-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1575-2A>G;ENST00000412036:exon14:c.1587-2A>G)	.	.	0.999992861718126	0.938
18	47809733	T	G	18	50283363	y	y	splicing	CXXC1(NM_014593:exon14:c.1575-2A>C;NM_001101654:exon14:c.1587-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon14:c.1575-2A>C;ENST00000412036:exon14:c.1587-2A>C)	.	.	0.999992861718126	0.938
18	47809734	G	A	18	50283364	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.33380791007963E-4	0.24
18	47809734	G	C	18	50283364	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999800228764292	0.746
18	47809734	G	T	18	50283364	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.971292071448298	0.634
18	47809735	G	A	18	50283365	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.46039206459424E-4	0.008
18	47809735	G	C	18	50283365	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.8315147763373E-4	0.078
18	47809735	G	T	18	50283365	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.42488169128439E-4	0.006
18	47809736	G	A	18	50283366	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.39765988491657E-5	0.018
18	47809736	G	C	18	50283366	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00772495197569064	0.184
18	47809736	G	T	18	50283366	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00526448301443181	0.07
18	47809737	G	A	18	50283367	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.22881132124232E-5	0.004
18	47809737	G	C	18	50283367	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.189788752656811	0.402
18	47809737	G	T	18	50283367	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.209045822689707	0.412
18	47809738	A	C	18	50283368	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999517417568762	0.962
18	47809738	A	G	18	50283368	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.82441805452025E-5	0.008
18	47809738	A	T	18	50283368	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0684088452903312	0.232
18	47809739	T	A	18	50283369	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.91828035419306E-5	0.018
18	47809739	T	C	18	50283369	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99837640782176	0.966
18	47809739	T	G	18	50283369	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.52173701430229E-5	0.01
18	47809740	T	A	18	50283370	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00210018856380278	0.028
18	47809740	T	C	18	50283370	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998704915208072	0.98
18	47809740	T	G	18	50283370	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00120650939231401	0.02
18	47809741	T	A	18	50283371	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.80018259252686E-4	0.038
18	47809741	T	C	18	50283371	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.09960321947569E-4	0.008
18	47809741	T	G	18	50283371	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.09960321947569E-4	0.02
18	47809742	G	A	18	50283372	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.39895852199726E-4	0.014
18	47809742	G	C	18	50283372	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00259311484677683	0.062
18	47809742	G	T	18	50283372	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00344799796950033	0.096
18	47809743	G	A	18	50283373	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.19523722086209E-5	0.002
18	47809743	G	C	18	50283373	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00100362045712451	0.116
18	47809743	G	T	18	50283373	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.78394029313969E-4	0.056
18	47809877	T	A	18	50283507	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.76020749564062E-5	0.0
18	47809877	T	C	18	50283507	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.76020749564062E-5	0.0
18	47809877	T	G	18	50283507	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.76020749564062E-5	0.0
18	47809878	C	A	18	50283508	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.10853470952722E-4	0.016
18	47809878	C	G	18	50283508	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.39826558468951E-5	0.016
18	47809878	C	T	18	50283508	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.10853470952722E-4	0.016
18	47809879	A	C	18	50283509	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0763110420900188	0.268
18	47809879	A	G	18	50283509	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.353558549805956	0.364
18	47809879	A	T	18	50283509	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.223461645051434	0.362
18	47809880	C	A	18	50283510	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.988132924669012	0.81
18	47809880	C	G	18	50283510	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.992915209925608	0.878
18	47809880	C	T	18	50283510	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999251660020397	0.934
18	47809881	T	A	18	50283511	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.93739188599681	0.526
18	47809881	T	C	18	50283511	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.968646708505976	0.716
18	47809881	T	G	18	50283511	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.896252535620357	0.572
18	47809882	T	A	18	50283512	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.972670461333149	0.62
18	47809882	T	C	18	50283512	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00415651282815942	0.074
18	47809882	T	G	18	50283512	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.996492094339218	0.77
18	47809883	A	C	18	50283513	y	y	splicing	CXXC1(NM_014593:exon13:c.1574+2T>G;NM_001101654:exon13:c.1586+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1574+2T>G;ENST00000412036:exon13:c.1586+2T>G;ENST00000589940:exon13:c.1574+2T>G)	.	.	0.999993672935256	0.928
18	47809883	A	G	18	50283513	y	y	splicing	CXXC1(NM_014593:exon13:c.1574+2T>C;NM_001101654:exon13:c.1586+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1574+2T>C;ENST00000412036:exon13:c.1586+2T>C;ENST00000589940:exon13:c.1574+2T>C)	.	.	0.983192923323245	0.678
18	47809883	A	T	18	50283513	y	y	splicing	CXXC1(NM_014593:exon13:c.1574+2T>A;NM_001101654:exon13:c.1586+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1574+2T>A;ENST00000412036:exon13:c.1586+2T>A;ENST00000589940:exon13:c.1574+2T>A)	.	.	0.999993672935256	0.928
18	47809884	C	A	18	50283514	y	y	splicing	CXXC1(NM_014593:exon13:c.1574+1G>T;NM_001101654:exon13:c.1586+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1574+1G>T;ENST00000412036:exon13:c.1586+1G>T;ENST00000589940:exon13:c.1574+1G>T)	.	.	0.999988247793601	0.928
18	47809884	C	G	18	50283514	y	y	splicing	CXXC1(NM_014593:exon13:c.1574+1G>C;NM_001101654:exon13:c.1586+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1574+1G>C;ENST00000412036:exon13:c.1586+1G>C;ENST00000589940:exon13:c.1574+1G>C)	.	.	0.999988247793601	0.928
18	47809884	C	T	18	50283514	y	y	splicing	CXXC1(NM_014593:exon13:c.1574+1G>A;NM_001101654:exon13:c.1586+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1574+1G>A;ENST00000412036:exon13:c.1586+1G>A;ENST00000589940:exon13:c.1574+1G>A)	.	.	0.999988247793601	0.93
18	47809885	C	A	18	50283515	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.G1586T:p.G529V;CXXC1:NM_014593:exon12:c.G1574T:p.G525V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.G1574T:p.G525V;ENSG00000154832:ENST00000412036:exon12:c.G1586T:p.G529V;ENSG00000154832:ENST00000285106:exon12:c.G1574T:p.G525V;	0.998829141448353	0.97
18	47809885	C	G	18	50283515	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.G1586C:p.G529A;CXXC1:NM_014593:exon12:c.G1574C:p.G525A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.G1574C:p.G525A;ENSG00000154832:ENST00000412036:exon12:c.G1586C:p.G529A;ENSG00000154832:ENST00000285106:exon12:c.G1574C:p.G525A;	0.998834272312984	0.896
18	47809885	C	T	18	50283515	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.G1586A:p.G529E;CXXC1:NM_014593:exon12:c.G1574A:p.G525E;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.G1574A:p.G525E;ENSG00000154832:ENST00000412036:exon12:c.G1586A:p.G529E;ENSG00000154832:ENST00000285106:exon12:c.G1574A:p.G525E;	0.995815339940288	0.862
18	47809886	C	A	18	50283516	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.G1585T:p.G529W;CXXC1:NM_014593:exon12:c.G1573T:p.G525W;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000589940:exon12:c.G1573T:p.G525X;	0.931468587161858	0.716
18	47809886	C	G	18	50283516	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.G1585C:p.G529R;CXXC1:NM_014593:exon12:c.G1573C:p.G525R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.G1573C:p.G525R;ENSG00000154832:ENST00000412036:exon12:c.G1585C:p.G529R;ENSG00000154832:ENST00000285106:exon12:c.G1573C:p.G525R;	0.891086489903675	0.74
18	47809886	C	T	18	50283516	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.G1585A:p.G529R;CXXC1:NM_014593:exon12:c.G1573A:p.G525R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.G1573A:p.G525R;ENSG00000154832:ENST00000412036:exon12:c.G1585A:p.G529R;ENSG00000154832:ENST00000285106:exon12:c.G1573A:p.G525R;	0.891086489903675	0.736
18	47809887	T	A	18	50283517	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.A1584T:p.E528D;CXXC1:NM_014593:exon12:c.A1572T:p.E524D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.A1572T:p.E524D;ENSG00000154832:ENST00000412036:exon12:c.A1584T:p.E528D;ENSG00000154832:ENST00000285106:exon12:c.A1572T:p.E524D;	0.00100714417050989	0.132
18	47809887	T	C	18	50283517	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon12:c.A1584G:p.E528E;CXXC1:NM_014593:exon12:c.A1572G:p.E524E;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.A1572G:p.E524E;ENSG00000154832:ENST00000412036:exon12:c.A1584G:p.E528E;ENSG00000154832:ENST00000285106:exon12:c.A1572G:p.E524E;	3.3410990456425E-4	0.004
18	47809887	T	G	18	50283517	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.A1584C:p.E528D;CXXC1:NM_014593:exon12:c.A1572C:p.E524D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.A1572C:p.E524D;ENSG00000154832:ENST00000412036:exon12:c.A1584C:p.E528D;ENSG00000154832:ENST00000285106:exon12:c.A1572C:p.E524D;	1.67746997117605E-4	0.136
18	47809933	T	A	18	50283563	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.A1538T:p.Y513F;CXXC1:NM_014593:exon12:c.A1526T:p.Y509F;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.A1526T:p.Y509F;ENSG00000154832:ENST00000412036:exon12:c.A1538T:p.Y513F;ENSG00000154832:ENST00000285106:exon12:c.A1526T:p.Y509F;	0.484067298065784	0.75
18	47809933	T	C	18	50283563	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.A1538G:p.Y513C;CXXC1:NM_014593:exon12:c.A1526G:p.Y509C;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.A1526G:p.Y509C;ENSG00000154832:ENST00000412036:exon12:c.A1538G:p.Y513C;ENSG00000154832:ENST00000285106:exon12:c.A1526G:p.Y509C;	0.697517006975758	0.682
18	47809933	T	G	18	50283563	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.A1538C:p.Y513S;CXXC1:NM_014593:exon12:c.A1526C:p.Y509S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.A1526C:p.Y509S;ENSG00000154832:ENST00000412036:exon12:c.A1538C:p.Y513S;ENSG00000154832:ENST00000285106:exon12:c.A1526C:p.Y509S;	0.57932894499519	0.728
18	47809934	A	C	18	50283564	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.T1537G:p.Y513D;CXXC1:NM_014593:exon12:c.T1525G:p.Y509D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.T1525G:p.Y509D;ENSG00000154832:ENST00000412036:exon12:c.T1537G:p.Y513D;ENSG00000154832:ENST00000285106:exon12:c.T1525G:p.Y509D;	0.611466065029044	0.726
18	47809934	A	G	18	50283564	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.T1537C:p.Y513H;CXXC1:NM_014593:exon12:c.T1525C:p.Y509H;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.T1525C:p.Y509H;ENSG00000154832:ENST00000412036:exon12:c.T1537C:p.Y513H;ENSG00000154832:ENST00000285106:exon12:c.T1525C:p.Y509H;	0.625690582589695	0.722
18	47809934	A	T	18	50283564	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon12:c.T1537A:p.Y513N;CXXC1:NM_014593:exon12:c.T1525A:p.Y509N;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon12:c.T1525A:p.Y509N;ENSG00000154832:ENST00000412036:exon12:c.T1537A:p.Y513N;ENSG00000154832:ENST00000285106:exon12:c.T1525A:p.Y509N;	0.499699770597508	0.726
18	47809935	C	A	18	50283565	y	y	splicing	CXXC1(NM_014593:exon13:c.1525-1G>T;NM_001101654:exon13:c.1537-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1525-1G>T;ENST00000412036:exon13:c.1537-1G>T;ENST00000589940:exon13:c.1525-1G>T)	.	.	0.999988247793601	0.942
18	47809935	C	G	18	50283565	y	y	splicing	CXXC1(NM_014593:exon13:c.1525-1G>C;NM_001101654:exon13:c.1537-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1525-1G>C;ENST00000412036:exon13:c.1537-1G>C;ENST00000589940:exon13:c.1525-1G>C)	.	.	0.999988247793601	0.942
18	47809935	C	T	18	50283565	y	y	splicing	CXXC1(NM_014593:exon13:c.1525-1G>A;NM_001101654:exon13:c.1537-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1525-1G>A;ENST00000412036:exon13:c.1537-1G>A;ENST00000589940:exon13:c.1525-1G>A)	.	.	0.999988247793601	0.942
18	47809936	T	A	18	50283566	y	y	splicing	CXXC1(NM_014593:exon13:c.1525-2A>T;NM_001101654:exon13:c.1537-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1525-2A>T;ENST00000412036:exon13:c.1537-2A>T;ENST00000589940:exon13:c.1525-2A>T)	.	.	0.999993672935256	0.938
18	47809936	T	C	18	50283566	y	y	splicing	CXXC1(NM_014593:exon13:c.1525-2A>G;NM_001101654:exon13:c.1537-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1525-2A>G;ENST00000412036:exon13:c.1537-2A>G;ENST00000589940:exon13:c.1525-2A>G)	.	.	0.999993672935256	0.938
18	47809936	T	G	18	50283566	y	y	splicing	CXXC1(NM_014593:exon13:c.1525-2A>C;NM_001101654:exon13:c.1537-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon13:c.1525-2A>C;ENST00000412036:exon13:c.1537-2A>C;ENST00000589940:exon13:c.1525-2A>C)	.	.	0.999993672935256	0.938
18	47809937	G	A	18	50283567	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.22373080417394E-4	0.126
18	47809937	G	C	18	50283567	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999618047849779	0.788
18	47809937	G	T	18	50283567	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.971049049958052	0.7
18	47809938	G	A	18	50283568	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.09562936375766E-4	0.012
18	47809938	G	C	18	50283568	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.07014656885049E-4	0.004
18	47809938	G	T	18	50283568	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.7326640774046E-4	0.018
18	47809939	A	C	18	50283569	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.831898851277488	0.654
18	47809939	A	G	18	50283569	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0648265105331993	0.172
18	47809939	A	T	18	50283569	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.922120977945761	0.696
18	47809940	G	A	18	50283570	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.83207216097928E-5	0.0
18	47809940	G	C	18	50283570	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00517566214850785	0.222
18	47809940	G	T	18	50283570	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00159121347547625	0.196
18	47809941	G	A	18	50283571	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00108223164511831	0.042
18	47809941	G	C	18	50283571	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0229835035231999	0.112
18	47809941	G	T	18	50283571	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0231753574549234	0.122
18	47809942	G	A	18	50283572	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.9920955617261E-4	0.002
18	47809942	G	C	18	50283572	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00356844574208664	0.088
18	47809942	G	T	18	50283572	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00172647984280304	0.16
18	47809943	A	C	18	50283573	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999990262151264	0.952
18	47809943	A	G	18	50283573	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.57712234593064E-4	0.14
18	47809943	A	T	18	50283573	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.81965563324852	0.578
18	47809944	T	A	18	50283574	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.61060932931531E-4	0.104
18	47809944	T	C	18	50283574	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.09227835385728E-4	0.116
18	47809944	T	G	18	50283574	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.60360286095919E-4	0.124
18	47809945	G	A	18	50283575	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0167715752368749	0.168
18	47809945	G	C	18	50283575	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0836879263613036	0.314
18	47809945	G	T	18	50283575	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.124510355273815	0.3
18	47809946	A	C	18	50283576	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998973018349852	0.906
18	47809946	A	G	18	50283576	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.548004857843849	0.734
18	47809946	A	T	18	50283576	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99918929104209	0.918
18	47810067	A	C	18	50283697	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00130058252226478	0.122
18	47810067	A	G	18	50283697	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00130058252226478	0.122
18	47810067	A	T	18	50283697	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00113167099298009	0.12
18	47810068	C	A	18	50283698	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.35217240312968E-5	0.032
18	47810068	C	G	18	50283698	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.70525652638061E-5	0.038
18	47810068	C	T	18	50283698	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.05373662958115E-4	0.046
18	47810069	C	A	18	50283699	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0014585899413094	0.044
18	47810069	C	G	18	50283699	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00165320292057798	0.178
18	47810069	C	T	18	50283699	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0014585899413094	0.102
18	47810070	C	A	18	50283700	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999931308608868	0.958
18	47810070	C	G	18	50283700	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999971023430437	0.98
18	47810070	C	T	18	50283700	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999831436055177	0.95
18	47810071	C	A	18	50283701	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.04524577397294E-5	0.026
18	47810071	C	G	18	50283701	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.62326116439332E-5	0.07
18	47810071	C	T	18	50283701	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.77850551272707E-5	0.096
18	47810072	A	C	18	50283702	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.68842435178667E-4	0.276
18	47810072	A	G	18	50283702	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00126506442780792	0.112
18	47810072	A	T	18	50283702	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.3787566374937E-4	0.18
18	47810073	A	C	18	50283703	y	y	splicing	CXXC1(NM_014593:exon12:c.1524+2T>G;NM_001101654:exon12:c.1536+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1524+2T>G;ENST00000412036:exon12:c.1536+2T>G;ENST00000589940:exon12:c.1524+2T>G)	.	.	0.999992861718126	0.938
18	47810073	A	G	18	50283703	y	y	splicing	CXXC1(NM_014593:exon12:c.1524+2T>C;NM_001101654:exon12:c.1536+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1524+2T>C;ENST00000412036:exon12:c.1536+2T>C;ENST00000589940:exon12:c.1524+2T>C)	.	.	0.99994968595484	0.91
18	47810073	A	T	18	50283703	y	y	splicing	CXXC1(NM_014593:exon12:c.1524+2T>A;NM_001101654:exon12:c.1536+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1524+2T>A;ENST00000412036:exon12:c.1536+2T>A;ENST00000589940:exon12:c.1524+2T>A)	.	.	0.999992861718126	0.938
18	47810074	C	A	18	50283704	y	y	splicing	CXXC1(NM_014593:exon12:c.1524+1G>T;NM_001101654:exon12:c.1536+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1524+1G>T;ENST00000412036:exon12:c.1536+1G>T;ENST00000589940:exon12:c.1524+1G>T)	.	.	0.999986741007567	0.944
18	47810074	C	G	18	50283704	y	y	splicing	CXXC1(NM_014593:exon12:c.1524+1G>C;NM_001101654:exon12:c.1536+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1524+1G>C;ENST00000412036:exon12:c.1536+1G>C;ENST00000589940:exon12:c.1524+1G>C)	.	.	0.999986741007567	0.944
18	47810074	C	T	18	50283704	y	y	splicing	CXXC1(NM_014593:exon12:c.1524+1G>A;NM_001101654:exon12:c.1536+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1524+1G>A;ENST00000412036:exon12:c.1536+1G>A;ENST00000589940:exon12:c.1524+1G>A)	.	.	0.999986741007567	0.942
18	47810075	C	A	18	50283705	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.G1536T:p.K512N;CXXC1:NM_014593:exon11:c.G1524T:p.K508N;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.G1524T:p.K508N;ENSG00000154832:ENST00000412036:exon11:c.G1536T:p.K512N;ENSG00000154832:ENST00000285106:exon11:c.G1524T:p.K508N;	0.999992807034561	0.998
18	47810075	C	G	18	50283705	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.G1536C:p.K512N;CXXC1:NM_014593:exon11:c.G1524C:p.K508N;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.G1524C:p.K508N;ENSG00000154832:ENST00000412036:exon11:c.G1536C:p.K512N;ENSG00000154832:ENST00000285106:exon11:c.G1524C:p.K508N;	0.999997863244633	1.0
18	47810075	C	T	18	50283705	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon11:c.G1536A:p.K512K;CXXC1:NM_014593:exon11:c.G1524A:p.K508K;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.G1524A:p.K508K;ENSG00000154832:ENST00000412036:exon11:c.G1536A:p.K512K;ENSG00000154832:ENST00000285106:exon11:c.G1524A:p.K508K;	0.999990523777878	1.0
18	47810076	T	A	18	50283706	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.A1535T:p.K512M;CXXC1:NM_014593:exon11:c.A1523T:p.K508M;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.A1523T:p.K508M;ENSG00000154832:ENST00000412036:exon11:c.A1535T:p.K512M;ENSG00000154832:ENST00000285106:exon11:c.A1523T:p.K508M;	0.999965368879302	0.998
18	47810076	T	C	18	50283706	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.A1535G:p.K512R;CXXC1:NM_014593:exon11:c.A1523G:p.K508R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.A1523G:p.K508R;ENSG00000154832:ENST00000412036:exon11:c.A1535G:p.K512R;ENSG00000154832:ENST00000285106:exon11:c.A1523G:p.K508R;	0.999968132197011	1.0
18	47810076	T	G	18	50283706	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.A1535C:p.K512T;CXXC1:NM_014593:exon11:c.A1523C:p.K508T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.A1523C:p.K508T;ENSG00000154832:ENST00000412036:exon11:c.A1535C:p.K512T;ENSG00000154832:ENST00000285106:exon11:c.A1523C:p.K508T;	0.999939305529958	0.996
18	47810077	T	A	18	50283707	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon11:c.A1534T:p.K512X;CXXC1:NM_014593:exon11:c.A1522T:p.K508X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000589940:exon11:c.A1522T:p.K508X;ENSG00000154832:ENST00000412036:exon11:c.A1534T:p.K512X;ENSG00000154832:ENST00000285106:exon11:c.A1522T:p.K508X;	0.997936749066289	0.852
18	47810077	T	C	18	50283707	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.A1534G:p.K512E;CXXC1:NM_014593:exon11:c.A1522G:p.K508E;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.A1522G:p.K508E;ENSG00000154832:ENST00000412036:exon11:c.A1534G:p.K512E;ENSG00000154832:ENST00000285106:exon11:c.A1522G:p.K508E;	0.484910160113833	0.756
18	47810077	T	G	18	50283707	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.A1534C:p.K512Q;CXXC1:NM_014593:exon11:c.A1522C:p.K508Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.A1522C:p.K508Q;ENSG00000154832:ENST00000412036:exon11:c.A1534C:p.K512Q;ENSG00000154832:ENST00000285106:exon11:c.A1522C:p.K508Q;	0.484067298065784	0.75
18	47810184	C	A	18	50283814	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.G1427T:p.S476I;CXXC1:NM_014593:exon11:c.G1415T:p.S472I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.G1415T:p.S472I;ENSG00000154832:ENST00000412036:exon11:c.G1427T:p.S476I;ENSG00000154832:ENST00000285106:exon11:c.G1415T:p.S472I;	6.38146255544478E-4	0.01
18	47810184	C	G	18	50283814	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.G1427C:p.S476T;CXXC1:NM_014593:exon11:c.G1415C:p.S472T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.G1415C:p.S472T;ENSG00000154832:ENST00000412036:exon11:c.G1427C:p.S476T;ENSG00000154832:ENST00000285106:exon11:c.G1415C:p.S472T;	2.25297750696918E-5	0.008
18	47810184	C	T	18	50283814	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.G1427A:p.S476N;CXXC1:NM_014593:exon11:c.G1415A:p.S472N;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.G1415A:p.S472N;ENSG00000154832:ENST00000412036:exon11:c.G1427A:p.S476N;ENSG00000154832:ENST00000285106:exon11:c.G1415A:p.S472N;	2.46977768599154E-4	0.054
18	47810185	T	A	18	50283815	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.A1426T:p.S476C;CXXC1:NM_014593:exon11:c.A1414T:p.S472C;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.A1414T:p.S472C;ENSG00000154832:ENST00000412036:exon11:c.A1426T:p.S476C;ENSG00000154832:ENST00000285106:exon11:c.A1414T:p.S472C;	0.408813843237966	0.554
18	47810185	T	C	18	50283815	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.A1426G:p.S476G;CXXC1:NM_014593:exon11:c.A1414G:p.S472G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.A1414G:p.S472G;ENSG00000154832:ENST00000412036:exon11:c.A1426G:p.S476G;ENSG00000154832:ENST00000285106:exon11:c.A1414G:p.S472G;	0.00102706305672264	0.044
18	47810185	T	G	18	50283815	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon11:c.A1426C:p.S476R;CXXC1:NM_014593:exon11:c.A1414C:p.S472R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon11:c.A1414C:p.S472R;ENSG00000154832:ENST00000412036:exon11:c.A1426C:p.S476R;ENSG00000154832:ENST00000285106:exon11:c.A1414C:p.S472R;	0.0116615203444828	0.124
18	47810186	C	A	18	50283816	y	y	splicing	CXXC1(NM_014593:exon12:c.1414-1G>T;NM_001101654:exon12:c.1426-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1414-1G>T;ENST00000412036:exon12:c.1426-1G>T;ENST00000589940:exon12:c.1414-1G>T)	.	.	0.999957317860884	0.936
18	47810186	C	G	18	50283816	y	y	splicing	CXXC1(NM_014593:exon12:c.1414-1G>C;NM_001101654:exon12:c.1426-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1414-1G>C;ENST00000412036:exon12:c.1426-1G>C;ENST00000589940:exon12:c.1414-1G>C)	.	.	0.999957317860884	0.94
18	47810186	C	T	18	50283816	y	y	splicing	CXXC1(NM_014593:exon12:c.1414-1G>A;NM_001101654:exon12:c.1426-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1414-1G>A;ENST00000412036:exon12:c.1426-1G>A;ENST00000589940:exon12:c.1414-1G>A)	.	.	0.999957317860884	0.934
18	47810187	T	A	18	50283817	y	y	splicing	CXXC1(NM_014593:exon12:c.1414-2A>T;NM_001101654:exon12:c.1426-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1414-2A>T;ENST00000412036:exon12:c.1426-2A>T;ENST00000589940:exon12:c.1414-2A>T)	.	.	0.99998333267497	0.944
18	47810187	T	C	18	50283817	y	y	splicing	CXXC1(NM_014593:exon12:c.1414-2A>G;NM_001101654:exon12:c.1426-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1414-2A>G;ENST00000412036:exon12:c.1426-2A>G;ENST00000589940:exon12:c.1414-2A>G)	.	.	0.99998333267497	0.952
18	47810187	T	G	18	50283817	y	y	splicing	CXXC1(NM_014593:exon12:c.1414-2A>C;NM_001101654:exon12:c.1426-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon12:c.1414-2A>C;ENST00000412036:exon12:c.1426-2A>C;ENST00000589940:exon12:c.1414-2A>C)	.	.	0.99998333267497	0.952
18	47810188	G	A	18	50283818	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00342462157662434	0.166
18	47810188	G	C	18	50283818	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999896631707516	0.896
18	47810188	G	T	18	50283818	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.979038289483605	0.828
18	47810189	C	A	18	50283819	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.44932786340423E-5	0.0
18	47810189	C	G	18	50283819	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.38791275912851E-5	0.002
18	47810189	C	T	18	50283819	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.67527033076389E-5	0.0
18	47810190	A	C	18	50283820	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.888757347354051	0.414
18	47810190	A	G	18	50283820	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.04170705423177E-4	0.066
18	47810190	A	T	18	50283820	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.86265532626807	0.452
18	47810191	T	A	18	50283821	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.37583047514653E-5	0.022
18	47810191	T	C	18	50283821	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.85892898826023E-5	0.006
18	47810191	T	G	18	50283821	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.08557939973579E-5	0.024
18	47810192	G	A	18	50283822	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.29138447230613E-5	0.002
18	47810192	G	C	18	50283822	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.59999576795195E-4	0.136
18	47810192	G	T	18	50283822	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.59999576795195E-4	0.08
18	47810193	G	A	18	50283823	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.96244821323094E-5	0.0
18	47810193	G	C	18	50283823	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00288022202600871	0.114
18	47810193	G	T	18	50283823	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00134836672670413	0.16
18	47810194	A	C	18	50283824	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00227608409966955	0.062
18	47810194	A	G	18	50283824	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.02166558762617E-4	0.048
18	47810194	A	T	18	50283824	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00193999315626807	0.09
18	47810195	A	C	18	50283825	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999410297333357	0.956
18	47810195	A	G	18	50283825	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.5489786927525E-4	0.006
18	47810195	A	T	18	50283825	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0484516238393807	0.252
18	47810196	T	A	18	50283826	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.04504894511061E-4	0.214
18	47810196	T	C	18	50283826	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.01879875635595E-5	0.002
18	47810196	T	G	18	50283826	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.05737385723471E-5	0.002
18	47810197	G	A	18	50283827	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.47270149805556E-5	0.01
18	47810197	G	C	18	50283827	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00171932177593851	0.096
18	47810197	G	T	18	50283827	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.65957341921129E-4	0.046
18	47810256	T	A	18	50283886	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.16519864486066E-5	0.004
18	47810256	T	C	18	50283886	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.6663649596766E-5	0.014
18	47810256	T	G	18	50283886	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.73335975334341E-5	0.006
18	47810257	T	A	18	50283887	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.5306304741263E-4	0.02
18	47810257	T	C	18	50283887	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.83987549073401E-5	0.068
18	47810257	T	G	18	50283887	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.28001151734084E-5	0.006
18	47810258	G	A	18	50283888	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.09358573238217E-5	0.0
18	47810258	G	C	18	50283888	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.01866317670602E-4	0.058
18	47810258	G	T	18	50283888	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.14067262186924E-4	0.028
18	47810259	C	A	18	50283889	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.995004589159689	0.858
18	47810259	C	G	18	50283889	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.988776775217189	0.704
18	47810259	C	T	18	50283889	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99644232168778	0.85
18	47810260	T	A	18	50283890	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.996757242491588	0.856
18	47810260	T	C	18	50283890	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99327497764628	0.832
18	47810260	T	G	18	50283890	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.969767157343324	0.718
18	47810261	C	A	18	50283891	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.87125998738743	0.57
18	47810261	C	G	18	50283891	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.467128843549222	0.606
18	47810261	C	T	18	50283891	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.14297988904395E-4	0.002
18	47810262	A	C	18	50283892	y	y	splicing	CXXC1(NM_014593:exon11:c.1413+2T>G;NM_001101654:exon11:c.1425+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1413+2T>G;ENST00000412036:exon11:c.1425+2T>G;ENST00000589940:exon11:c.1413+2T>G)	.	.	0.999993672935256	0.928
18	47810262	A	G	18	50283892	y	y	splicing	CXXC1(NM_014593:exon11:c.1413+2T>C;NM_001101654:exon11:c.1425+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1413+2T>C;ENST00000412036:exon11:c.1425+2T>C;ENST00000589940:exon11:c.1413+2T>C)	.	.	0.999959541454763	0.86
18	47810262	A	T	18	50283892	y	y	splicing	CXXC1(NM_014593:exon11:c.1413+2T>A;NM_001101654:exon11:c.1425+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1413+2T>A;ENST00000412036:exon11:c.1425+2T>A;ENST00000589940:exon11:c.1413+2T>A)	.	.	0.999993672935256	0.928
18	47810263	C	A	18	50283893	y	y	splicing	CXXC1(NM_014593:exon11:c.1413+1G>T;NM_001101654:exon11:c.1425+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1413+1G>T;ENST00000412036:exon11:c.1425+1G>T;ENST00000589940:exon11:c.1413+1G>T)	.	.	0.999988247793601	0.93
18	47810263	C	G	18	50283893	y	y	splicing	CXXC1(NM_014593:exon11:c.1413+1G>C;NM_001101654:exon11:c.1425+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1413+1G>C;ENST00000412036:exon11:c.1425+1G>C;ENST00000589940:exon11:c.1413+1G>C)	.	.	0.999988247793601	0.93
18	47810263	C	T	18	50283893	y	y	splicing	CXXC1(NM_014593:exon11:c.1413+1G>A;NM_001101654:exon11:c.1425+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1413+1G>A;ENST00000412036:exon11:c.1425+1G>A;ENST00000589940:exon11:c.1413+1G>A)	.	.	0.999988247793601	0.93
18	47810264	C	A	18	50283894	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.G1425T:p.E475D;CXXC1:NM_014593:exon10:c.G1413T:p.E471D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.G1413T:p.E471D;ENSG00000154832:ENST00000412036:exon10:c.G1425T:p.E475D;ENSG00000154832:ENST00000285106:exon10:c.G1413T:p.E471D;	0.998315772627447	0.96
18	47810264	C	G	18	50283894	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.G1425C:p.E475D;CXXC1:NM_014593:exon10:c.G1413C:p.E471D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.G1413C:p.E471D;ENSG00000154832:ENST00000412036:exon10:c.G1425C:p.E475D;ENSG00000154832:ENST00000285106:exon10:c.G1413C:p.E471D;	0.99992225326028	0.974
18	47810264	C	T	18	50283894	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon10:c.G1425A:p.E475E;CXXC1:NM_014593:exon10:c.G1413A:p.E471E;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.G1413A:p.E471E;ENSG00000154832:ENST00000412036:exon10:c.G1425A:p.E475E;ENSG00000154832:ENST00000285106:exon10:c.G1413A:p.E471E;	0.996989608879727	0.962
18	47810265	T	A	18	50283895	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.A1424T:p.E475V;CXXC1:NM_014593:exon10:c.A1412T:p.E471V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.A1412T:p.E471V;ENSG00000154832:ENST00000412036:exon10:c.A1424T:p.E475V;ENSG00000154832:ENST00000285106:exon10:c.A1412T:p.E471V;	0.999738817037491	0.998
18	47810265	T	C	18	50283895	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.A1424G:p.E475G;CXXC1:NM_014593:exon10:c.A1412G:p.E471G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.A1412G:p.E471G;ENSG00000154832:ENST00000412036:exon10:c.A1424G:p.E475G;ENSG00000154832:ENST00000285106:exon10:c.A1412G:p.E471G;	0.999798060779622	0.994
18	47810265	T	G	18	50283895	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.A1424C:p.E475A;CXXC1:NM_014593:exon10:c.A1412C:p.E471A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.A1412C:p.E471A;ENSG00000154832:ENST00000412036:exon10:c.A1424C:p.E475A;ENSG00000154832:ENST00000285106:exon10:c.A1412C:p.E471A;	0.999275428728313	0.968
18	47810266	C	A	18	50283896	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon10:c.G1423T:p.E475X;CXXC1:NM_014593:exon10:c.G1411T:p.E471X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000589940:exon10:c.G1411T:p.E471X;ENSG00000154832:ENST00000412036:exon10:c.G1423T:p.E475X;ENSG00000154832:ENST00000285106:exon10:c.G1411T:p.E471X;	0.974635185485669	0.694
18	47810266	C	G	18	50283896	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.G1423C:p.E475Q;CXXC1:NM_014593:exon10:c.G1411C:p.E471Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.G1411C:p.E471Q;ENSG00000154832:ENST00000412036:exon10:c.G1423C:p.E475Q;ENSG00000154832:ENST00000285106:exon10:c.G1411C:p.E471Q;	0.731983972054988	0.65
18	47810266	C	T	18	50283896	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.G1423A:p.E475K;CXXC1:NM_014593:exon10:c.G1411A:p.E471K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.G1411A:p.E471K;ENSG00000154832:ENST00000412036:exon10:c.G1423A:p.E475K;ENSG00000154832:ENST00000285106:exon10:c.G1411A:p.E471K;	0.709883805066533	0.672
18	47810470	G	A	18	50284100	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.C1219T:p.R407C;CXXC1:NM_014593:exon10:c.C1207T:p.R403C;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.C1207T:p.R403C;ENSG00000154832:ENST00000412036:exon10:c.C1219T:p.R407C;ENSG00000154832:ENST00000285106:exon10:c.C1207T:p.R403C;	0.861276736691613	0.664
18	47810470	G	C	18	50284100	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.C1219G:p.R407G;CXXC1:NM_014593:exon10:c.C1207G:p.R403G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.C1207G:p.R403G;ENSG00000154832:ENST00000412036:exon10:c.C1219G:p.R407G;ENSG00000154832:ENST00000285106:exon10:c.C1207G:p.R403G;	0.921621324313181	0.724
18	47810470	G	T	18	50284100	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.C1219A:p.R407S;CXXC1:NM_014593:exon10:c.C1207A:p.R403S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.C1207A:p.R403S;ENSG00000154832:ENST00000412036:exon10:c.C1219A:p.R407S;ENSG00000154832:ENST00000285106:exon10:c.C1207A:p.R403S;	0.90608557416944	0.644
18	47810471	G	A	18	50284101	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon10:c.C1218T:p.N406N;CXXC1:NM_014593:exon10:c.C1206T:p.N402N;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.C1206T:p.N402N;ENSG00000154832:ENST00000412036:exon10:c.C1218T:p.N406N;ENSG00000154832:ENST00000285106:exon10:c.C1206T:p.N402N;	0.0147555118314089	0.23
18	47810471	G	C	18	50284101	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.C1218G:p.N406K;CXXC1:NM_014593:exon10:c.C1206G:p.N402K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.C1206G:p.N402K;ENSG00000154832:ENST00000412036:exon10:c.C1218G:p.N406K;ENSG00000154832:ENST00000285106:exon10:c.C1206G:p.N402K;	4.98276926723942E-4	0.178
18	47810471	G	T	18	50284101	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon10:c.C1218A:p.N406K;CXXC1:NM_014593:exon10:c.C1206A:p.N402K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon10:c.C1206A:p.N402K;ENSG00000154832:ENST00000412036:exon10:c.C1218A:p.N406K;ENSG00000154832:ENST00000285106:exon10:c.C1206A:p.N402K;	5.5012516147508E-4	0.0
18	47810472	C	A	18	50284102	y	y	splicing	CXXC1(NM_014593:exon11:c.1206-1G>T;NM_001101654:exon11:c.1218-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1206-1G>T;ENST00000412036:exon11:c.1218-1G>T;ENST00000589940:exon11:c.1206-1G>T)	.	.	0.999988247793601	0.942
18	47810472	C	G	18	50284102	y	y	splicing	CXXC1(NM_014593:exon11:c.1206-1G>C;NM_001101654:exon11:c.1218-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1206-1G>C;ENST00000412036:exon11:c.1218-1G>C;ENST00000589940:exon11:c.1206-1G>C)	.	.	0.999988247793601	0.942
18	47810472	C	T	18	50284102	y	y	splicing	CXXC1(NM_014593:exon11:c.1206-1G>A;NM_001101654:exon11:c.1218-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1206-1G>A;ENST00000412036:exon11:c.1218-1G>A;ENST00000589940:exon11:c.1206-1G>A)	.	.	0.999988247793601	0.942
18	47810473	T	A	18	50284103	y	y	splicing	CXXC1(NM_014593:exon11:c.1206-2A>T;NM_001101654:exon11:c.1218-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1206-2A>T;ENST00000412036:exon11:c.1218-2A>T;ENST00000589940:exon11:c.1206-2A>T)	.	.	0.999993672935256	0.944
18	47810473	T	C	18	50284103	y	y	splicing	CXXC1(NM_014593:exon11:c.1206-2A>G;NM_001101654:exon11:c.1218-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1206-2A>G;ENST00000412036:exon11:c.1218-2A>G;ENST00000589940:exon11:c.1206-2A>G)	.	.	0.999993672935256	0.944
18	47810473	T	G	18	50284103	y	y	splicing	CXXC1(NM_014593:exon11:c.1206-2A>C;NM_001101654:exon11:c.1218-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon11:c.1206-2A>C;ENST00000412036:exon11:c.1218-2A>C;ENST00000589940:exon11:c.1206-2A>C)	.	.	0.999993672935256	0.944
18	47810474	G	A	18	50284104	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.94904473442158E-4	0.026
18	47810474	G	C	18	50284104	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998174035133343	0.83
18	47810474	G	T	18	50284104	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.882912951246914	0.688
18	47810475	C	A	18	50284105	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.22795926513422E-4	0.048
18	47810475	C	G	18	50284105	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.94834633551012E-4	0.006
18	47810475	C	T	18	50284105	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.6875704258928E-4	0.07
18	47810476	A	C	18	50284106	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0202926695367348	0.292
18	47810476	A	G	18	50284106	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.59614314499316E-4	0.066
18	47810476	A	T	18	50284106	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999475432206734	0.888
18	47810477	G	A	18	50284107	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.00927917758412E-5	0.002
18	47810477	G	C	18	50284107	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.61002099917169E-4	0.126
18	47810477	G	T	18	50284107	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.11968256791702E-4	0.188
18	47810478	G	A	18	50284108	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.35380573866004E-5	0.004
18	47810478	G	C	18	50284108	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00277142926038766	0.08
18	47810478	G	T	18	50284108	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00357399046344288	0.082
18	47810479	G	A	18	50284109	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.47886366385627E-5	0.0
18	47810479	G	C	18	50284109	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.78199389324341E-4	0.048
18	47810479	G	T	18	50284109	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.37070409962762E-4	0.088
18	47810480	A	C	18	50284110	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00148179182156117	0.094
18	47810480	A	G	18	50284110	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00117607870839312	0.078
18	47810480	A	T	18	50284110	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00307312744256412	0.078
18	47810481	A	C	18	50284111	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0125462341211371	0.25
18	47810481	A	G	18	50284111	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.61914064461278E-4	0.118
18	47810481	A	T	18	50284111	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0107720735978769	0.208
18	47810482	G	A	18	50284112	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.18578440114497E-5	0.002
18	47810482	G	C	18	50284112	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.73026464975212E-4	0.078
18	47810482	G	T	18	50284112	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.87322276795344E-4	0.074
18	47810483	G	A	18	50284113	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.23559717098613E-4	0.002
18	47810483	G	C	18	50284113	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.9998401144748	0.962
18	47810483	G	T	18	50284113	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0021178499784418	0.12
18	47810740	T	A	18	50284370	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.63260468699156E-6	0.002
18	47810740	T	C	18	50284370	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.17239576919894E-6	0.006
18	47810740	T	G	18	50284370	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.63260468699156E-6	0.002
18	47810741	G	A	18	50284371	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.73308597656571E-4	0.014
18	47810741	G	C	18	50284371	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.51948690187916E-4	0.018
18	47810741	G	T	18	50284371	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.51948690187916E-4	0.014
18	47810742	A	C	18	50284372	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.155230622475948	0.304
18	47810742	A	G	18	50284372	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0301727218931343	0.23
18	47810742	A	T	18	50284372	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.14320754836071	0.452
18	47810743	C	A	18	50284373	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999984514245269	0.972
18	47810743	C	G	18	50284373	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.9999604071762	0.988
18	47810743	C	T	18	50284373	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999946888753978	0.948
18	47810744	T	A	18	50284374	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.996949307683496	0.774
18	47810744	T	C	18	50284374	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.996210866771024	0.818
18	47810744	T	G	18	50284374	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.993982380017721	0.774
18	47810745	C	A	18	50284375	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.772275411482069	0.486
18	47810745	C	G	18	50284375	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.947523061762216	0.536
18	47810745	C	T	18	50284375	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.26509655062045E-5	0.0
18	47810746	A	C	18	50284376	y	y	splicing	CXXC1(NM_014593:exon10:c.1205+2T>G;NM_001101654:exon10:c.1217+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1205+2T>G;ENST00000412036:exon10:c.1217+2T>G;ENST00000589940:exon10:c.1205+2T>G)	.	.	0.999993672935256	0.926
18	47810746	A	G	18	50284376	y	y	splicing	CXXC1(NM_014593:exon10:c.1205+2T>C;NM_001101654:exon10:c.1217+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1205+2T>C;ENST00000412036:exon10:c.1217+2T>C;ENST00000589940:exon10:c.1205+2T>C)	.	.	0.999959541454763	0.854
18	47810746	A	T	18	50284376	y	y	splicing	CXXC1(NM_014593:exon10:c.1205+2T>A;NM_001101654:exon10:c.1217+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1205+2T>A;ENST00000412036:exon10:c.1217+2T>A;ENST00000589940:exon10:c.1205+2T>A)	.	.	0.999993672935256	0.926
18	47810747	C	A	18	50284377	y	y	splicing	CXXC1(NM_014593:exon10:c.1205+1G>T;NM_001101654:exon10:c.1217+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1205+1G>T;ENST00000412036:exon10:c.1217+1G>T;ENST00000589940:exon10:c.1205+1G>T)	.	.	0.999993519952936	0.926
18	47810747	C	G	18	50284377	y	y	splicing	CXXC1(NM_014593:exon10:c.1205+1G>C;NM_001101654:exon10:c.1217+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1205+1G>C;ENST00000412036:exon10:c.1217+1G>C;ENST00000589940:exon10:c.1205+1G>C)	.	.	0.999993519952936	0.926
18	47810747	C	T	18	50284377	y	y	splicing	CXXC1(NM_014593:exon10:c.1205+1G>A;NM_001101654:exon10:c.1217+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1205+1G>A;ENST00000412036:exon10:c.1217+1G>A;ENST00000589940:exon10:c.1205+1G>A)	.	.	0.999993519952936	0.926
18	47810748	T	A	18	50284378	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1217T:p.N406I;CXXC1:NM_014593:exon9:c.A1205T:p.N402I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.A1205T:p.N402I;ENSG00000154832:ENST00000412036:exon9:c.A1217T:p.N406I;ENSG00000154832:ENST00000285106:exon9:c.A1205T:p.N402I;	0.0582080377233231	0.338
18	47810748	T	C	18	50284378	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1217G:p.N406S;CXXC1:NM_014593:exon9:c.A1205G:p.N402S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.A1205G:p.N402S;ENSG00000154832:ENST00000412036:exon9:c.A1217G:p.N406S;ENSG00000154832:ENST00000285106:exon9:c.A1205G:p.N402S;	0.0028793268663687	0.064
18	47810748	T	G	18	50284378	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1217C:p.N406T;CXXC1:NM_014593:exon9:c.A1205C:p.N402T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.A1205C:p.N402T;ENSG00000154832:ENST00000412036:exon9:c.A1217C:p.N406T;ENSG00000154832:ENST00000285106:exon9:c.A1205C:p.N402T;	0.0258495371658668	0.148
18	47810749	T	A	18	50284379	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1216T:p.N406Y;CXXC1:NM_014593:exon9:c.A1204T:p.N402Y;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.A1204T:p.N402Y;ENSG00000154832:ENST00000412036:exon9:c.A1216T:p.N406Y;ENSG00000154832:ENST00000285106:exon9:c.A1204T:p.N402Y;	0.995112293988869	0.918
18	47810749	T	C	18	50284379	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1216G:p.N406D;CXXC1:NM_014593:exon9:c.A1204G:p.N402D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.A1204G:p.N402D;ENSG00000154832:ENST00000412036:exon9:c.A1216G:p.N406D;ENSG00000154832:ENST00000285106:exon9:c.A1204G:p.N402D;	0.981685336735014	0.898
18	47810749	T	G	18	50284379	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1216C:p.N406H;CXXC1:NM_014593:exon9:c.A1204C:p.N402H;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.A1204C:p.N402H;ENSG00000154832:ENST00000412036:exon9:c.A1216C:p.N406H;ENSG00000154832:ENST00000285106:exon9:c.A1204C:p.N402H;	0.991781749977237	0.934
18	47810750	G	A	18	50284380	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon9:c.C1215T:p.A405A;CXXC1:NM_014593:exon9:c.C1203T:p.A401A;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.C1203T:p.A401A;ENSG00000154832:ENST00000412036:exon9:c.C1215T:p.A405A;ENSG00000154832:ENST00000285106:exon9:c.C1203T:p.A401A;	0.808506329568579	0.548
18	47810750	G	C	18	50284380	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon9:c.C1215G:p.A405A;CXXC1:NM_014593:exon9:c.C1203G:p.A401A;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.C1203G:p.A401A;ENSG00000154832:ENST00000412036:exon9:c.C1215G:p.A405A;ENSG00000154832:ENST00000285106:exon9:c.C1203G:p.A401A;	0.0069316572626947	0.128
18	47810750	G	T	18	50284380	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon9:c.C1215A:p.A405A;CXXC1:NM_014593:exon9:c.C1203A:p.A401A;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon9:c.C1203A:p.A401A;ENSG00000154832:ENST00000412036:exon9:c.C1215A:p.A405A;ENSG00000154832:ENST00000285106:exon9:c.C1203A:p.A401A;	0.0115308120868795	0.114
18	47810931	T	A	18	50284561	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1034T:p.K345M;CXXC1:NM_014593:exon9:c.A1022T:p.K341M;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon6:c.A578T:p.K193M;ENSG00000154832:ENST00000589940:exon9:c.A1022T:p.K341M;ENSG00000154832:ENST00000412036:exon9:c.A1034T:p.K345M;ENSG00000154832:ENST00000285106:exon9:c.A1022T:p.K341M;	0.517309606087173	0.524
18	47810931	T	C	18	50284561	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1034G:p.K345R;CXXC1:NM_014593:exon9:c.A1022G:p.K341R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon6:c.A578G:p.K193R;ENSG00000154832:ENST00000589940:exon9:c.A1022G:p.K341R;ENSG00000154832:ENST00000412036:exon9:c.A1034G:p.K345R;ENSG00000154832:ENST00000285106:exon9:c.A1022G:p.K341R;	0.636671265799922	0.542
18	47810931	T	G	18	50284561	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1034C:p.K345T;CXXC1:NM_014593:exon9:c.A1022C:p.K341T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon6:c.A578C:p.K193T;ENSG00000154832:ENST00000589940:exon9:c.A1022C:p.K341T;ENSG00000154832:ENST00000412036:exon9:c.A1034C:p.K345T;ENSG00000154832:ENST00000285106:exon9:c.A1022C:p.K341T;	0.680426607426515	0.578
18	47810932	T	A	18	50284562	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon9:c.A1033T:p.K345X;CXXC1:NM_014593:exon9:c.A1021T:p.K341X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000591474:exon6:c.A577T:p.K193X;ENSG00000154832:ENST00000589940:exon9:c.A1021T:p.K341X;ENSG00000154832:ENST00000412036:exon9:c.A1033T:p.K345X;ENSG00000154832:ENST00000285106:exon9:c.A1021T:p.K341X;	0.313766732629475	0.498
18	47810932	T	C	18	50284562	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1033G:p.K345E;CXXC1:NM_014593:exon9:c.A1021G:p.K341E;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon6:c.A577G:p.K193E;ENSG00000154832:ENST00000589940:exon9:c.A1021G:p.K341E;ENSG00000154832:ENST00000412036:exon9:c.A1033G:p.K345E;ENSG00000154832:ENST00000285106:exon9:c.A1021G:p.K341E;	0.00226030549748595	0.022
18	47810932	T	G	18	50284562	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon9:c.A1033C:p.K345Q;CXXC1:NM_014593:exon9:c.A1021C:p.K341Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon6:c.A577C:p.K193Q;ENSG00000154832:ENST00000589940:exon9:c.A1021C:p.K341Q;ENSG00000154832:ENST00000412036:exon9:c.A1033C:p.K345Q;ENSG00000154832:ENST00000285106:exon9:c.A1021C:p.K341Q;	0.161399302766222	0.338
18	47810933	C	A	18	50284563	y	y	splicing	CXXC1(NM_014593:exon10:c.1021-1G>T;NM_001101654:exon10:c.1033-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1021-1G>T;ENST00000412036:exon10:c.1033-1G>T;ENST00000589940:exon10:c.1021-1G>T;ENST00000591474:exon7:c.577-1G>T)	.	.	0.999966514958823	0.962
18	47810933	C	G	18	50284563	y	y	splicing	CXXC1(NM_014593:exon10:c.1021-1G>C;NM_001101654:exon10:c.1033-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1021-1G>C;ENST00000412036:exon10:c.1033-1G>C;ENST00000589940:exon10:c.1021-1G>C;ENST00000591474:exon7:c.577-1G>C)	.	.	0.999966514958823	0.96
18	47810933	C	T	18	50284563	y	y	splicing	CXXC1(NM_014593:exon10:c.1021-1G>A;NM_001101654:exon10:c.1033-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1021-1G>A;ENST00000412036:exon10:c.1033-1G>A;ENST00000589940:exon10:c.1021-1G>A;ENST00000591474:exon7:c.577-1G>A)	.	.	0.999966514958823	0.964
18	47810934	T	A	18	50284564	y	y	splicing	CXXC1(NM_014593:exon10:c.1021-2A>T;NM_001101654:exon10:c.1033-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1021-2A>T;ENST00000412036:exon10:c.1033-2A>T;ENST00000589940:exon10:c.1021-2A>T;ENST00000591474:exon7:c.577-2A>T)	.	.	0.999988781533968	0.958
18	47810934	T	C	18	50284564	y	y	splicing	CXXC1(NM_014593:exon10:c.1021-2A>G;NM_001101654:exon10:c.1033-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1021-2A>G;ENST00000412036:exon10:c.1033-2A>G;ENST00000589940:exon10:c.1021-2A>G;ENST00000591474:exon7:c.577-2A>G)	.	.	0.999988390207502	0.938
18	47810934	T	G	18	50284564	y	y	splicing	CXXC1(NM_014593:exon10:c.1021-2A>C;NM_001101654:exon10:c.1033-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon10:c.1021-2A>C;ENST00000412036:exon10:c.1033-2A>C;ENST00000589940:exon10:c.1021-2A>C;ENST00000591474:exon7:c.577-2A>C)	.	.	0.999988390207502	0.934
18	47810935	G	A	18	50284565	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.97699310326522E-4	0.062
18	47810935	G	C	18	50284565	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998103746440044	0.628
18	47810935	G	T	18	50284565	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.544072302896062	0.484
18	47810936	T	A	18	50284566	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00153281553630211	0.284
18	47810936	T	C	18	50284566	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.929843761009355	0.508
18	47810936	T	G	18	50284566	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.58792920636497E-4	0.188
18	47810937	T	A	18	50284567	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.05140843953518E-5	0.0
18	47810937	T	C	18	50284567	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.76758887043991E-5	0.01
18	47810937	T	G	18	50284567	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.64808021366792E-6	0.006
18	47810938	G	A	18	50284568	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.25000234792684E-6	0.03
18	47810938	G	C	18	50284568	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00165071181633425	0.204
18	47810938	G	T	18	50284568	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.94157706276154E-4	0.12
18	47810939	A	C	18	50284569	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0625770507493852	0.206
18	47810939	A	G	18	50284569	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.72171554435223E-5	0.018
18	47810939	A	T	18	50284569	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0581117817842432	0.21
18	47810940	G	A	18	50284570	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.29720622034953E-5	0.052
18	47810940	G	C	18	50284570	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00121295841359438	0.152
18	47810940	G	T	18	50284570	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.86961513258289E-4	0.108
18	47810941	C	A	18	50284571	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.85511571906492E-5	0.016
18	47810941	C	G	18	50284571	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.33089952747653E-5	0.022
18	47810941	C	T	18	50284571	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.46662997362408E-5	0.016
18	47810942	A	C	18	50284572	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00411170041215138	0.304
18	47810942	A	G	18	50284572	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.00716404834546E-5	0.084
18	47810942	A	T	18	50284572	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999544316633571	0.846
18	47810943	A	C	18	50284573	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.137091178004533	0.598
18	47810943	A	G	18	50284573	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.64150152562323E-4	0.14
18	47810943	A	T	18	50284573	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.170447127720833	0.52
18	47810944	G	A	18	50284574	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.40467481344745E-5	0.006
18	47810944	G	C	18	50284574	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.35744243587984E-4	0.052
18	47810944	G	T	18	50284574	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.40132502568033E-4	0.048
18	47811082	C	A	18	50284712	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.37443029293744E-4	0.044
18	47811082	C	G	18	50284712	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.5844286190413E-4	0.016
18	47811082	C	T	18	50284712	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00100515500448323	0.036
18	47811083	A	C	18	50284713	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.27686217322991E-5	0.0
18	47811083	A	G	18	50284713	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.67421033558999E-5	0.0
18	47811083	A	T	18	50284713	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.67421033558999E-5	0.012
18	47811084	C	A	18	50284714	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.0522072218591E-5	0.002
18	47811084	C	G	18	50284714	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.56796075027217E-5	0.03
18	47811084	C	T	18	50284714	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.61304433729032E-5	0.016
18	47811085	T	A	18	50284715	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.01849463195317E-5	0.086
18	47811085	T	C	18	50284715	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.69060302624133E-4	0.094
18	47811085	T	G	18	50284715	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.29810118355696E-5	0.06
18	47811086	T	A	18	50284716	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.396246315921842	0.608
18	47811086	T	C	18	50284716	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.988121763719325	0.702
18	47811086	T	G	18	50284716	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.979423138527301	0.664
18	47811087	T	A	18	50284717	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.996790648285309	0.7
18	47811087	T	C	18	50284717	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.951084001834029	0.65
18	47811087	T	G	18	50284717	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.995842025950545	0.704
18	47811088	A	C	18	50284718	y	y	splicing	CXXC1(NM_001101654:exon9:c.1032+2T>G)	.	.	splicing	ENSG00000154832(ENST00000412036:exon9:c.1032+2T>G;ENST00000591474:exon6:c.576+2T>G)	.	.	0.999981357335234	0.784
18	47811088	A	G	18	50284718	y	y	splicing	CXXC1(NM_001101654:exon9:c.1032+2T>C)	.	.	splicing	ENSG00000154832(ENST00000412036:exon9:c.1032+2T>C;ENST00000591474:exon6:c.576+2T>C)	.	.	0.998409932521685	0.7
18	47811088	A	T	18	50284718	y	y	splicing	CXXC1(NM_001101654:exon9:c.1032+2T>A)	.	.	splicing	ENSG00000154832(ENST00000412036:exon9:c.1032+2T>A;ENST00000591474:exon6:c.576+2T>A)	.	.	0.999986615919117	0.784
18	47811089	C	A	18	50284719	y	y	splicing	CXXC1(NM_001101654:exon9:c.1032+1G>T)	.	.	splicing	ENSG00000154832(ENST00000412036:exon9:c.1032+1G>T;ENST00000591474:exon6:c.576+1G>T)	.	.	0.999793452479926	0.758
18	47811089	C	G	18	50284719	y	y	splicing	CXXC1(NM_001101654:exon9:c.1032+1G>C)	.	.	splicing	ENSG00000154832(ENST00000412036:exon9:c.1032+1G>C;ENST00000591474:exon6:c.576+1G>C)	.	.	0.999811628775924	0.76
18	47811089	C	T	18	50284719	y	y	splicing	CXXC1(NM_001101654:exon9:c.1032+1G>A)	.	.	splicing	ENSG00000154832(ENST00000412036:exon9:c.1032+1G>A;ENST00000591474:exon6:c.576+1G>A)	.	.	0.999793452479926	0.764
18	47811090	C	A	18	50284720	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.G1032T:p.R344S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.G576T:p.R192S;ENSG00000154832:ENST00000412036:exon8:c.G1032T:p.R344S;	0.999807219503346	0.952
18	47811090	C	G	18	50284720	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.G1032C:p.R344S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.G576C:p.R192S;ENSG00000154832:ENST00000412036:exon8:c.G1032C:p.R344S;	0.999947944722374	0.932
18	47811090	C	T	18	50284720	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon8:c.G1032A:p.R344R;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.G576A:p.R192R;ENSG00000154832:ENST00000412036:exon8:c.G1032A:p.R344R;	0.999902315370081	0.978
18	47811091	C	A	18	50284721	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.G1031T:p.R344M;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.G575T:p.R192M;ENSG00000154832:ENST00000412036:exon8:c.G1031T:p.R344M;	7.18629684080608E-4	0.0
18	47811091	C	G	18	50284721	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.G1031C:p.R344T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.G575C:p.R192T;ENSG00000154832:ENST00000412036:exon8:c.G1031C:p.R344T;	4.00947026419692E-4	0.02
18	47811091	C	T	18	50284721	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.G1031A:p.R344K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.G575A:p.R192K;ENSG00000154832:ENST00000412036:exon8:c.G1031A:p.R344K;	2.33368780597314E-4	0.182
18	47811092	T	A	18	50284722	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.A1030T:p.R344W;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.A574T:p.R192W;ENSG00000154832:ENST00000412036:exon8:c.A1030T:p.R344W;	0.0382803157986661	0.418
18	47811092	T	C	18	50284722	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.A1030G:p.R344G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.A574G:p.R192G;ENSG00000154832:ENST00000412036:exon8:c.A1030G:p.R344G;	0.00120260715080697	0.082
18	47811092	T	G	18	50284722	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon8:c.A1030C:p.R344R;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.A574C:p.R192R;ENSG00000154832:ENST00000412036:exon8:c.A1030C:p.R344R;	7.18269751756676E-5	0.008
18	47811208	G	A	18	50284838	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.C914T:p.P305L;CXXC1:NM_014593:exon8:c.C914T:p.P305L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.C458T:p.P153L;ENSG00000154832:ENST00000589940:exon8:c.C914T:p.P305L;ENSG00000154832:ENST00000412036:exon8:c.C914T:p.P305L;ENSG00000154832:ENST00000285106:exon8:c.C914T:p.P305L;	0.831577551967316	0.81
18	47811208	G	C	18	50284838	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.C914G:p.P305R;CXXC1:NM_014593:exon8:c.C914G:p.P305R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.C458G:p.P153R;ENSG00000154832:ENST00000589940:exon8:c.C914G:p.P305R;ENSG00000154832:ENST00000412036:exon8:c.C914G:p.P305R;ENSG00000154832:ENST00000285106:exon8:c.C914G:p.P305R;	0.764767799301049	0.736
18	47811208	G	T	18	50284838	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.C914A:p.P305H;CXXC1:NM_014593:exon8:c.C914A:p.P305H;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.C458A:p.P153H;ENSG00000154832:ENST00000589940:exon8:c.C914A:p.P305H;ENSG00000154832:ENST00000412036:exon8:c.C914A:p.P305H;ENSG00000154832:ENST00000285106:exon8:c.C914A:p.P305H;	0.729437015534721	0.63
18	47811209	G	A	18	50284839	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.C913T:p.P305S;CXXC1:NM_014593:exon8:c.C913T:p.P305S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.C457T:p.P153S;ENSG00000154832:ENST00000589940:exon8:c.C913T:p.P305S;ENSG00000154832:ENST00000412036:exon8:c.C913T:p.P305S;ENSG00000154832:ENST00000285106:exon8:c.C913T:p.P305S;	0.843057191388987	0.738
18	47811209	G	C	18	50284839	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.C913G:p.P305A;CXXC1:NM_014593:exon8:c.C913G:p.P305A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.C457G:p.P153A;ENSG00000154832:ENST00000589940:exon8:c.C913G:p.P305A;ENSG00000154832:ENST00000412036:exon8:c.C913G:p.P305A;ENSG00000154832:ENST00000285106:exon8:c.C913G:p.P305A;	0.0187546800010811	0.306
18	47811209	G	T	18	50284839	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon8:c.C913A:p.P305T;CXXC1:NM_014593:exon8:c.C913A:p.P305T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon5:c.C457A:p.P153T;ENSG00000154832:ENST00000589940:exon8:c.C913A:p.P305T;ENSG00000154832:ENST00000412036:exon8:c.C913A:p.P305T;ENSG00000154832:ENST00000285106:exon8:c.C913A:p.P305T;	0.242843572821833	0.586
18	47811210	C	A	18	50284840	y	y	splicing	CXXC1(NM_014593:exon9:c.913-1G>T;NM_001101654:exon9:c.913-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon9:c.913-1G>T;ENST00000412036:exon9:c.913-1G>T;ENST00000589940:exon9:c.913-1G>T;ENST00000591474:exon6:c.457-1G>T)	.	.	0.999984967332678	0.942
18	47811210	C	G	18	50284840	y	y	splicing	CXXC1(NM_014593:exon9:c.913-1G>C;NM_001101654:exon9:c.913-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon9:c.913-1G>C;ENST00000412036:exon9:c.913-1G>C;ENST00000589940:exon9:c.913-1G>C;ENST00000591474:exon6:c.457-1G>C)	.	.	0.999984967332678	0.942
18	47811210	C	T	18	50284840	y	y	splicing	CXXC1(NM_014593:exon9:c.913-1G>A;NM_001101654:exon9:c.913-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon9:c.913-1G>A;ENST00000412036:exon9:c.913-1G>A;ENST00000589940:exon9:c.913-1G>A;ENST00000591474:exon6:c.457-1G>A)	.	.	0.999984967332678	0.942
18	47811211	T	A	18	50284841	y	y	splicing	CXXC1(NM_014593:exon9:c.913-2A>T;NM_001101654:exon9:c.913-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon9:c.913-2A>T;ENST00000412036:exon9:c.913-2A>T;ENST00000589940:exon9:c.913-2A>T;ENST00000591474:exon6:c.457-2A>T)	.	.	0.999988893522493	0.936
18	47811211	T	C	18	50284841	y	y	splicing	CXXC1(NM_014593:exon9:c.913-2A>G;NM_001101654:exon9:c.913-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon9:c.913-2A>G;ENST00000412036:exon9:c.913-2A>G;ENST00000589940:exon9:c.913-2A>G;ENST00000591474:exon6:c.457-2A>G)	.	.	0.999988893522493	0.936
18	47811211	T	G	18	50284841	y	y	splicing	CXXC1(NM_014593:exon9:c.913-2A>C;NM_001101654:exon9:c.913-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon9:c.913-2A>C;ENST00000412036:exon9:c.913-2A>C;ENST00000589940:exon9:c.913-2A>C;ENST00000591474:exon6:c.457-2A>C)	.	.	0.999988893522493	0.936
18	47811212	G	A	18	50284842	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00236326993584091	0.278
18	47811212	G	C	18	50284842	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999472797795902	0.776
18	47811212	G	T	18	50284842	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.955239989346543	0.722
18	47811213	C	A	18	50284843	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.70846136999406E-4	0.01
18	47811213	C	G	18	50284843	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.81218236464099E-4	0.012
18	47811213	C	T	18	50284843	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.69972557823628E-4	0.006
18	47811214	A	C	18	50284844	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.947683658486215	0.59
18	47811214	A	G	18	50284844	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00201947199870244	0.106
18	47811214	A	T	18	50284844	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999842862745096	0.962
18	47811215	A	C	18	50284845	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0292313648622216	0.35
18	47811215	A	G	18	50284845	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.29526042735997E-4	0.01
18	47811215	A	T	18	50284845	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.199598073512589	0.396
18	47811216	G	A	18	50284846	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.00334537669794E-4	0.026
18	47811216	G	C	18	50284846	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00517442085457414	0.128
18	47811216	G	T	18	50284846	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00884697606250099	0.138
18	47811217	C	A	18	50284847	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.04842815115868E-4	0.01
18	47811217	C	G	18	50284847	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.59995677848826E-4	0.01
18	47811217	C	T	18	50284847	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.92756318507298E-4	0.058
18	47811218	A	C	18	50284848	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.143639309138614	0.528
18	47811218	A	G	18	50284848	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.72663056470955E-4	0.104
18	47811218	A	T	18	50284848	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999957867005981	0.984
18	47811219	G	A	18	50284849	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.72806076071942E-5	0.076
18	47811219	G	C	18	50284849	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00121476948482482	0.046
18	47811219	G	T	18	50284849	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0015756844375904	0.08
18	47811220	G	A	18	50284850	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.28074192315385E-4	0.046
18	47811220	G	C	18	50284850	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00237811389250267	0.176
18	47811220	G	T	18	50284850	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00945467024467149	0.116
18	47811221	G	A	18	50284851	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.61823729385159E-5	0.006
18	47811221	G	C	18	50284851	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.39622524956142E-4	0.134
18	47811221	G	T	18	50284851	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00221756600994005	0.1
18	47811364	C	A	18	50284994	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.04321737496789E-5	0.0
18	47811364	C	G	18	50284994	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.41430284832568E-5	0.0
18	47811364	C	T	18	50284994	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.85047789963066E-6	0.0
18	47811365	T	A	18	50284995	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.10092838506237E-4	0.044
18	47811365	T	C	18	50284995	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.76792584135584E-5	0.058
18	47811365	T	G	18	50284995	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.69340656020015E-6	0.0
18	47811366	G	A	18	50284996	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.89385661522863E-5	0.006
18	47811366	G	C	18	50284996	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.65288271630585E-4	0.042
18	47811366	G	T	18	50284996	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.98156247890189E-5	0.004
18	47811367	C	A	18	50284997	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999969725149658	0.862
18	47811367	C	G	18	50284997	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999916230687969	0.866
18	47811367	C	T	18	50284997	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99994251753838	0.846
18	47811368	T	A	18	50284998	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.988928672903076	0.778
18	47811368	T	C	18	50284998	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.983329452028628	0.732
18	47811368	T	G	18	50284998	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.431678686944743	0.404
18	47811369	C	A	18	50284999	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.969140344806272	0.61
18	47811369	C	G	18	50284999	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.862895098959819	0.674
18	47811369	C	T	18	50284999	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.20034849614363E-5	0.0
18	47811370	A	C	18	50285000	y	y	splicing	CXXC1(NM_014593:exon8:c.912+2T>G;NM_001101654:exon8:c.912+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.912+2T>G;ENST00000412036:exon8:c.912+2T>G;ENST00000589940:exon8:c.912+2T>G;ENST00000591474:exon5:c.456+2T>G)	.	.	0.999985393148309	0.894
18	47811370	A	G	18	50285000	y	y	splicing	CXXC1(NM_014593:exon8:c.912+2T>C;NM_001101654:exon8:c.912+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.912+2T>C;ENST00000412036:exon8:c.912+2T>C;ENST00000589940:exon8:c.912+2T>C;ENST00000591474:exon5:c.456+2T>C)	.	.	0.999970137616208	0.924
18	47811370	A	T	18	50285000	y	y	splicing	CXXC1(NM_014593:exon8:c.912+2T>A;NM_001101654:exon8:c.912+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.912+2T>A;ENST00000412036:exon8:c.912+2T>A;ENST00000589940:exon8:c.912+2T>A;ENST00000591474:exon5:c.456+2T>A)	.	.	0.999985393148309	0.896
18	47811371	C	A	18	50285001	y	y	splicing	CXXC1(NM_014593:exon8:c.912+1G>T;NM_001101654:exon8:c.912+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.912+1G>T;ENST00000412036:exon8:c.912+1G>T;ENST00000589940:exon8:c.912+1G>T;ENST00000591474:exon5:c.456+1G>T)	.	.	0.99996748057446	0.884
18	47811371	C	G	18	50285001	y	y	splicing	CXXC1(NM_014593:exon8:c.912+1G>C;NM_001101654:exon8:c.912+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.912+1G>C;ENST00000412036:exon8:c.912+1G>C;ENST00000589940:exon8:c.912+1G>C;ENST00000591474:exon5:c.456+1G>C)	.	.	0.99996748057446	0.876
18	47811371	C	T	18	50285001	y	y	splicing	CXXC1(NM_014593:exon8:c.912+1G>A;NM_001101654:exon8:c.912+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.912+1G>A;ENST00000412036:exon8:c.912+1G>A;ENST00000589940:exon8:c.912+1G>A;ENST00000591474:exon5:c.456+1G>A)	.	.	0.99996748057446	0.888
18	47811372	C	A	18	50285002	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon7:c.G912T:p.L304L;CXXC1:NM_014593:exon7:c.G912T:p.L304L;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.G456T:p.L152L;ENSG00000154832:ENST00000589940:exon7:c.G912T:p.L304L;ENSG00000154832:ENST00000412036:exon7:c.G912T:p.L304L;ENSG00000154832:ENST00000285106:exon7:c.G912T:p.L304L;	0.998299408970044	0.952
18	47811372	C	G	18	50285002	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon7:c.G912C:p.L304L;CXXC1:NM_014593:exon7:c.G912C:p.L304L;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.G456C:p.L152L;ENSG00000154832:ENST00000589940:exon7:c.G912C:p.L304L;ENSG00000154832:ENST00000412036:exon7:c.G912C:p.L304L;ENSG00000154832:ENST00000285106:exon7:c.G912C:p.L304L;	0.999946775048826	0.936
18	47811372	C	T	18	50285002	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon7:c.G912A:p.L304L;CXXC1:NM_014593:exon7:c.G912A:p.L304L;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.G456A:p.L152L;ENSG00000154832:ENST00000589940:exon7:c.G912A:p.L304L;ENSG00000154832:ENST00000412036:exon7:c.G912A:p.L304L;ENSG00000154832:ENST00000285106:exon7:c.G912A:p.L304L;	0.999473637471851	0.96
18	47811373	A	C	18	50285003	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.T911G:p.L304R;CXXC1:NM_014593:exon7:c.T911G:p.L304R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.T455G:p.L152R;ENSG00000154832:ENST00000589940:exon7:c.T911G:p.L304R;ENSG00000154832:ENST00000412036:exon7:c.T911G:p.L304R;ENSG00000154832:ENST00000285106:exon7:c.T911G:p.L304R;	0.249223414875808	0.528
18	47811373	A	G	18	50285003	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.T911C:p.L304P;CXXC1:NM_014593:exon7:c.T911C:p.L304P;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.T455C:p.L152P;ENSG00000154832:ENST00000589940:exon7:c.T911C:p.L304P;ENSG00000154832:ENST00000412036:exon7:c.T911C:p.L304P;ENSG00000154832:ENST00000285106:exon7:c.T911C:p.L304P;	0.0798934014597021	0.234
18	47811373	A	T	18	50285003	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.T911A:p.L304Q;CXXC1:NM_014593:exon7:c.T911A:p.L304Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.T455A:p.L152Q;ENSG00000154832:ENST00000589940:exon7:c.T911A:p.L304Q;ENSG00000154832:ENST00000412036:exon7:c.T911A:p.L304Q;ENSG00000154832:ENST00000285106:exon7:c.T911A:p.L304Q;	0.00609748908071562	0.114
18	47811374	G	A	18	50285004	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon7:c.C910T:p.L304L;CXXC1:NM_014593:exon7:c.C910T:p.L304L;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.C454T:p.L152L;ENSG00000154832:ENST00000589940:exon7:c.C910T:p.L304L;ENSG00000154832:ENST00000412036:exon7:c.C910T:p.L304L;ENSG00000154832:ENST00000285106:exon7:c.C910T:p.L304L;	0.00475396236037261	0.092
18	47811374	G	C	18	50285004	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.C910G:p.L304V;CXXC1:NM_014593:exon7:c.C910G:p.L304V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.C454G:p.L152V;ENSG00000154832:ENST00000589940:exon7:c.C910G:p.L304V;ENSG00000154832:ENST00000412036:exon7:c.C910G:p.L304V;ENSG00000154832:ENST00000285106:exon7:c.C910G:p.L304V;	6.74086850609513E-4	0.17
18	47811374	G	T	18	50285004	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.C910A:p.L304M;CXXC1:NM_014593:exon7:c.C910A:p.L304M;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.C454A:p.L152M;ENSG00000154832:ENST00000589940:exon7:c.C910A:p.L304M;ENSG00000154832:ENST00000412036:exon7:c.C910A:p.L304M;ENSG00000154832:ENST00000285106:exon7:c.C910A:p.L304M;	4.62291516658783E-5	0.036
18	47811616	A	C	18	50285246	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.T668G:p.L223R;CXXC1:NM_014593:exon7:c.T668G:p.L223R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.T212G:p.L71R;ENSG00000154832:ENST00000589940:exon7:c.T668G:p.L223R;ENSG00000154832:ENST00000412036:exon7:c.T668G:p.L223R;ENSG00000154832:ENST00000589548:exon6:c.T641G:p.L214R;ENSG00000154832:ENST00000586837:exon7:c.T668G:p.L223R;ENSG00000154832:ENST00000285106:exon7:c.T668G:p.L223R;	0.0127294114896151	0.15
18	47811616	A	G	18	50285246	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.T668C:p.L223P;CXXC1:NM_014593:exon7:c.T668C:p.L223P;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.T212C:p.L71P;ENSG00000154832:ENST00000589940:exon7:c.T668C:p.L223P;ENSG00000154832:ENST00000412036:exon7:c.T668C:p.L223P;ENSG00000154832:ENST00000589548:exon6:c.T641C:p.L214P;ENSG00000154832:ENST00000586837:exon7:c.T668C:p.L223P;ENSG00000154832:ENST00000285106:exon7:c.T668C:p.L223P;	0.0321713886868425	0.136
18	47811616	A	T	18	50285246	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.T668A:p.L223H;CXXC1:NM_014593:exon7:c.T668A:p.L223H;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.T212A:p.L71H;ENSG00000154832:ENST00000589940:exon7:c.T668A:p.L223H;ENSG00000154832:ENST00000412036:exon7:c.T668A:p.L223H;ENSG00000154832:ENST00000589548:exon6:c.T641A:p.L214H;ENSG00000154832:ENST00000586837:exon7:c.T668A:p.L223H;ENSG00000154832:ENST00000285106:exon7:c.T668A:p.L223H;	0.0644248552622283	0.2
18	47811617	G	A	18	50285247	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.C667T:p.L223F;CXXC1:NM_014593:exon7:c.C667T:p.L223F;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.C211T:p.L71F;ENSG00000154832:ENST00000589940:exon7:c.C667T:p.L223F;ENSG00000154832:ENST00000412036:exon7:c.C667T:p.L223F;ENSG00000154832:ENST00000589548:exon6:c.C640T:p.L214F;ENSG00000154832:ENST00000586837:exon7:c.C667T:p.L223F;ENSG00000154832:ENST00000285106:exon7:c.C667T:p.L223F;	0.0318241598733798	0.316
18	47811617	G	C	18	50285247	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.C667G:p.L223V;CXXC1:NM_014593:exon7:c.C667G:p.L223V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.C211G:p.L71V;ENSG00000154832:ENST00000589940:exon7:c.C667G:p.L223V;ENSG00000154832:ENST00000412036:exon7:c.C667G:p.L223V;ENSG00000154832:ENST00000589548:exon6:c.C640G:p.L214V;ENSG00000154832:ENST00000586837:exon7:c.C667G:p.L223V;ENSG00000154832:ENST00000285106:exon7:c.C667G:p.L223V;	7.13603854820353E-4	0.174
18	47811617	G	T	18	50285247	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon7:c.C667A:p.L223I;CXXC1:NM_014593:exon7:c.C667A:p.L223I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon4:c.C211A:p.L71I;ENSG00000154832:ENST00000589940:exon7:c.C667A:p.L223I;ENSG00000154832:ENST00000412036:exon7:c.C667A:p.L223I;ENSG00000154832:ENST00000589548:exon6:c.C640A:p.L214I;ENSG00000154832:ENST00000586837:exon7:c.C667A:p.L223I;ENSG00000154832:ENST00000285106:exon7:c.C667A:p.L223I;	5.93288999602599E-4	0.022
18	47811618	C	A	18	50285248	y	y	splicing	CXXC1(NM_014593:exon8:c.667-1G>T;NM_001101654:exon8:c.667-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.667-1G>T;ENST00000412036:exon8:c.667-1G>T;ENST00000589940:exon8:c.667-1G>T;ENST00000591474:exon5:c.211-1G>T;ENST00000589548:exon7:c.640-1G>T;ENST00000586837:exon8:c.667-1G>T)	.	.	0.999957168346649	0.96
18	47811618	C	G	18	50285248	y	y	splicing	CXXC1(NM_014593:exon8:c.667-1G>C;NM_001101654:exon8:c.667-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.667-1G>C;ENST00000412036:exon8:c.667-1G>C;ENST00000589940:exon8:c.667-1G>C;ENST00000591474:exon5:c.211-1G>C;ENST00000589548:exon7:c.640-1G>C;ENST00000586837:exon8:c.667-1G>C)	.	.	0.999957168346649	0.956
18	47811618	C	T	18	50285248	y	y	splicing	CXXC1(NM_014593:exon8:c.667-1G>A;NM_001101654:exon8:c.667-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.667-1G>A;ENST00000412036:exon8:c.667-1G>A;ENST00000589940:exon8:c.667-1G>A;ENST00000591474:exon5:c.211-1G>A;ENST00000589548:exon7:c.640-1G>A;ENST00000586837:exon8:c.667-1G>A)	.	.	0.999957168346649	0.96
18	47811619	T	A	18	50285249	y	y	splicing	CXXC1(NM_014593:exon8:c.667-2A>T;NM_001101654:exon8:c.667-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.667-2A>T;ENST00000412036:exon8:c.667-2A>T;ENST00000589940:exon8:c.667-2A>T;ENST00000591474:exon5:c.211-2A>T;ENST00000589548:exon7:c.640-2A>T;ENST00000586837:exon8:c.667-2A>T)	.	.	0.999962770432696	0.952
18	47811619	T	C	18	50285249	y	y	splicing	CXXC1(NM_014593:exon8:c.667-2A>G;NM_001101654:exon8:c.667-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.667-2A>G;ENST00000412036:exon8:c.667-2A>G;ENST00000589940:exon8:c.667-2A>G;ENST00000591474:exon5:c.211-2A>G;ENST00000589548:exon7:c.640-2A>G;ENST00000586837:exon8:c.667-2A>G)	.	.	0.99996311369278	0.958
18	47811619	T	G	18	50285249	y	y	splicing	CXXC1(NM_014593:exon8:c.667-2A>C;NM_001101654:exon8:c.667-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon8:c.667-2A>C;ENST00000412036:exon8:c.667-2A>C;ENST00000589940:exon8:c.667-2A>C;ENST00000591474:exon5:c.211-2A>C;ENST00000589548:exon7:c.640-2A>C;ENST00000586837:exon8:c.667-2A>C)	.	.	0.99996311369278	0.958
18	47811620	G	A	18	50285250	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0337556719482163	0.3
18	47811620	G	C	18	50285250	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999381509759117	0.908
18	47811620	G	T	18	50285250	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.992727439372424	0.846
18	47811621	C	A	18	50285251	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00251969304647778	0.072
18	47811621	C	G	18	50285251	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.94278414579907E-4	0.032
18	47811621	C	T	18	50285251	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00261724962756308	0.022
18	47811622	A	C	18	50285252	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0406207416041971	0.196
18	47811622	A	G	18	50285252	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.76530451158203E-5	0.012
18	47811622	A	T	18	50285252	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.997889858804174	0.776
18	47811623	G	A	18	50285253	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.88098771789297E-4	0.034
18	47811623	G	C	18	50285253	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.257612599192521	0.432
18	47811623	G	T	18	50285253	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.258358269773155	0.45
18	47811624	G	A	18	50285254	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.98200530970085E-4	0.108
18	47811624	G	C	18	50285254	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.34006865832702	0.268
18	47811624	G	T	18	50285254	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.252691130876312	0.256
18	47811625	G	A	18	50285255	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0014577558321065	0.032
18	47811625	G	C	18	50285255	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.041519102640858	0.182
18	47811625	G	T	18	50285255	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0112451003268899	0.186
18	47811626	C	A	18	50285256	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.575204605112593	0.662
18	47811626	C	G	18	50285256	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.806460563357933	0.726
18	47811626	C	T	18	50285256	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.665714221776032	0.72
18	47811627	A	C	18	50285257	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.997707496667373	0.892
18	47811627	A	G	18	50285257	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0234494065263833	0.29
18	47811627	A	T	18	50285257	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99998662360744	0.974
18	47811628	G	A	18	50285258	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.546903972554578	0.618
18	47811628	G	C	18	50285258	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.469109722780855	0.482
18	47811628	G	T	18	50285258	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.829943975808818	0.562
18	47811629	A	C	18	50285259	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998499055041176	0.91
18	47811629	A	G	18	50285259	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0613414933966158	0.294
18	47811629	A	T	18	50285259	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999472573781191	0.896
18	47811687	G	A	18	50285317	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00502116644593021	0.022
18	47811687	G	C	18	50285317	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00455550459124179	0.026
18	47811687	G	T	18	50285317	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00445136837478254	0.026
18	47811688	G	A	18	50285318	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00486564087394127	0.016
18	47811688	G	C	18	50285318	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00486564087394127	0.018
18	47811688	G	T	18	50285318	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00455550459124179	0.032
18	47811689	A	C	18	50285319	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.346952772008687	0.364
18	47811689	A	G	18	50285319	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.655264344363567	0.4
18	47811689	A	T	18	50285319	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.731112896166194	0.556
18	47811690	C	A	18	50285320	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999897531479752	0.926
18	47811690	C	G	18	50285320	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999884354031834	0.97
18	47811690	C	T	18	50285320	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999700433126192	0.944
18	47811691	T	A	18	50285321	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.988826273646658	0.71
18	47811691	T	C	18	50285321	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.95680403199283	0.702
18	47811691	T	G	18	50285321	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.834290444890632	0.598
18	47811692	C	A	18	50285322	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.907886804087618	0.592
18	47811692	C	G	18	50285322	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.838795853598314	0.568
18	47811692	C	T	18	50285322	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.81570384164308E-4	0.01
18	47811693	A	C	18	50285323	y	y	splicing	CXXC1(NM_014593:exon7:c.666+2T>G;NM_001101654:exon7:c.666+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.666+2T>G;ENST00000412036:exon7:c.666+2T>G;ENST00000589940:exon7:c.666+2T>G;ENST00000591474:exon4:c.210+2T>G;ENST00000586837:exon7:c.666+2T>G)	.	.	0.999987212236324	0.926
18	47811693	A	G	18	50285323	y	y	splicing	CXXC1(NM_014593:exon7:c.666+2T>C;NM_001101654:exon7:c.666+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.666+2T>C;ENST00000412036:exon7:c.666+2T>C;ENST00000589940:exon7:c.666+2T>C;ENST00000591474:exon4:c.210+2T>C;ENST00000586837:exon7:c.666+2T>C)	.	.	0.999918231232821	0.838
18	47811693	A	T	18	50285323	y	y	splicing	CXXC1(NM_014593:exon7:c.666+2T>A;NM_001101654:exon7:c.666+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.666+2T>A;ENST00000412036:exon7:c.666+2T>A;ENST00000589940:exon7:c.666+2T>A;ENST00000591474:exon4:c.210+2T>A;ENST00000586837:exon7:c.666+2T>A)	.	.	0.999990155693597	0.924
18	47811694	C	A	18	50285324	y	y	splicing	CXXC1(NM_014593:exon7:c.666+1G>T;NM_001101654:exon7:c.666+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.666+1G>T;ENST00000412036:exon7:c.666+1G>T;ENST00000589940:exon7:c.666+1G>T;ENST00000591474:exon4:c.210+1G>T;ENST00000586837:exon7:c.666+1G>T)	.	.	0.999976137096505	0.924
18	47811694	C	G	18	50285324	y	y	splicing	CXXC1(NM_014593:exon7:c.666+1G>C;NM_001101654:exon7:c.666+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.666+1G>C;ENST00000412036:exon7:c.666+1G>C;ENST00000589940:exon7:c.666+1G>C;ENST00000591474:exon4:c.210+1G>C;ENST00000586837:exon7:c.666+1G>C)	.	.	0.999976137096505	0.928
18	47811694	C	T	18	50285324	y	y	splicing	CXXC1(NM_014593:exon7:c.666+1G>A;NM_001101654:exon7:c.666+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.666+1G>A;ENST00000412036:exon7:c.666+1G>A;ENST00000589940:exon7:c.666+1G>A;ENST00000591474:exon4:c.210+1G>A;ENST00000586837:exon7:c.666+1G>A)	.	.	0.999986675681007	0.926
18	47811695	C	A	18	50285325	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon6:c.G666T:p.S222S;CXXC1:NM_014593:exon6:c.G666T:p.S222S;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.G210T:p.S70S;ENSG00000154832:ENST00000589940:exon6:c.G666T:p.S222S;ENSG00000154832:ENST00000412036:exon6:c.G666T:p.S222S;ENSG00000154832:ENST00000586837:exon6:c.G666T:p.S222S;ENSG00000154832:ENST00000285106:exon6:c.G666T:p.S222S;	0.999791479777417	0.946
18	47811695	C	G	18	50285325	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon6:c.G666C:p.S222S;CXXC1:NM_014593:exon6:c.G666C:p.S222S;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.G210C:p.S70S;ENSG00000154832:ENST00000589940:exon6:c.G666C:p.S222S;ENSG00000154832:ENST00000412036:exon6:c.G666C:p.S222S;ENSG00000154832:ENST00000586837:exon6:c.G666C:p.S222S;ENSG00000154832:ENST00000285106:exon6:c.G666C:p.S222S;	0.999025652634229	0.724
18	47811695	C	T	18	50285325	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon6:c.G666A:p.S222S;CXXC1:NM_014593:exon6:c.G666A:p.S222S;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.G210A:p.S70S;ENSG00000154832:ENST00000589940:exon6:c.G666A:p.S222S;ENSG00000154832:ENST00000412036:exon6:c.G666A:p.S222S;ENSG00000154832:ENST00000586837:exon6:c.G666A:p.S222S;ENSG00000154832:ENST00000285106:exon6:c.G666A:p.S222S;	0.99703321224377	0.936
18	47811696	G	A	18	50285326	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.C665T:p.S222L;CXXC1:NM_014593:exon6:c.C665T:p.S222L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.C209T:p.S70L;ENSG00000154832:ENST00000589940:exon6:c.C665T:p.S222L;ENSG00000154832:ENST00000412036:exon6:c.C665T:p.S222L;ENSG00000154832:ENST00000586837:exon6:c.C665T:p.S222L;ENSG00000154832:ENST00000285106:exon6:c.C665T:p.S222L;	0.642376054160351	0.51
18	47811696	G	C	18	50285326	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.C665G:p.S222W;CXXC1:NM_014593:exon6:c.C665G:p.S222W;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.C209G:p.S70W;ENSG00000154832:ENST00000589940:exon6:c.C665G:p.S222W;ENSG00000154832:ENST00000412036:exon6:c.C665G:p.S222W;ENSG00000154832:ENST00000586837:exon6:c.C665G:p.S222W;ENSG00000154832:ENST00000285106:exon6:c.C665G:p.S222W;	0.825563920981377	0.562
18	47811696	G	T	18	50285326	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon6:c.C665A:p.S222X;CXXC1:NM_014593:exon6:c.C665A:p.S222X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000591474:exon3:c.C209A:p.S70X;ENSG00000154832:ENST00000589940:exon6:c.C665A:p.S222X;ENSG00000154832:ENST00000412036:exon6:c.C665A:p.S222X;ENSG00000154832:ENST00000586837:exon6:c.C665A:p.S222X;ENSG00000154832:ENST00000285106:exon6:c.C665A:p.S222X;	0.752948252302004	0.678
18	47811697	A	C	18	50285327	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.T664G:p.S222A;CXXC1:NM_014593:exon6:c.T664G:p.S222A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.T208G:p.S70A;ENSG00000154832:ENST00000589940:exon6:c.T664G:p.S222A;ENSG00000154832:ENST00000412036:exon6:c.T664G:p.S222A;ENSG00000154832:ENST00000586837:exon6:c.T664G:p.S222A;ENSG00000154832:ENST00000285106:exon6:c.T664G:p.S222A;	0.00665821306536485	0.042
18	47811697	A	G	18	50285327	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.T664C:p.S222P;CXXC1:NM_014593:exon6:c.T664C:p.S222P;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.T208C:p.S70P;ENSG00000154832:ENST00000589940:exon6:c.T664C:p.S222P;ENSG00000154832:ENST00000412036:exon6:c.T664C:p.S222P;ENSG00000154832:ENST00000586837:exon6:c.T664C:p.S222P;ENSG00000154832:ENST00000285106:exon6:c.T664C:p.S222P;	0.00139206037434819	0.014
18	47811697	A	T	18	50285327	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.T664A:p.S222T;CXXC1:NM_014593:exon6:c.T664A:p.S222T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.T208A:p.S70T;ENSG00000154832:ENST00000589940:exon6:c.T664A:p.S222T;ENSG00000154832:ENST00000412036:exon6:c.T664A:p.S222T;ENSG00000154832:ENST00000586837:exon6:c.T664A:p.S222T;ENSG00000154832:ENST00000285106:exon6:c.T664A:p.S222T;	0.00325168323753001	0.03
18	47811720	T	A	18	50285350	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.A641T:p.E214V;CXXC1:NM_014593:exon6:c.A641T:p.E214V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.A185T:p.E62V;ENSG00000154832:ENST00000589940:exon6:c.A641T:p.E214V;ENSG00000154832:ENST00000412036:exon6:c.A641T:p.E214V;ENSG00000154832:ENST00000586837:exon6:c.A641T:p.E214V;ENSG00000154832:ENST00000285106:exon6:c.A641T:p.E214V;	0.0019252407164	0.072
18	47811720	T	C	18	50285350	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.A641G:p.E214G;CXXC1:NM_014593:exon6:c.A641G:p.E214G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.A185G:p.E62G;ENSG00000154832:ENST00000589940:exon6:c.A641G:p.E214G;ENSG00000154832:ENST00000412036:exon6:c.A641G:p.E214G;ENSG00000154832:ENST00000586837:exon6:c.A641G:p.E214G;ENSG00000154832:ENST00000285106:exon6:c.A641G:p.E214G;	0.154642442291751	0.366
18	47811720	T	G	18	50285350	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.A641C:p.E214A;CXXC1:NM_014593:exon6:c.A641C:p.E214A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.A185C:p.E62A;ENSG00000154832:ENST00000589940:exon6:c.A641C:p.E214A;ENSG00000154832:ENST00000412036:exon6:c.A641C:p.E214A;ENSG00000154832:ENST00000586837:exon6:c.A641C:p.E214A;ENSG00000154832:ENST00000285106:exon6:c.A641C:p.E214A;	0.0121798018123994	0.12
18	47811721	C	A	18	50285351	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon6:c.G640T:p.E214X;CXXC1:NM_014593:exon6:c.G640T:p.E214X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000591474:exon3:c.G184T:p.E62X;ENSG00000154832:ENST00000589940:exon6:c.G640T:p.E214X;ENSG00000154832:ENST00000412036:exon6:c.G640T:p.E214X;ENSG00000154832:ENST00000586837:exon6:c.G640T:p.E214X;ENSG00000154832:ENST00000285106:exon6:c.G640T:p.E214X;	0.99987480412228	0.992
18	47811721	C	G	18	50285351	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.G640C:p.E214Q;CXXC1:NM_014593:exon6:c.G640C:p.E214Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.G184C:p.E62Q;ENSG00000154832:ENST00000589940:exon6:c.G640C:p.E214Q;ENSG00000154832:ENST00000412036:exon6:c.G640C:p.E214Q;ENSG00000154832:ENST00000586837:exon6:c.G640C:p.E214Q;ENSG00000154832:ENST00000285106:exon6:c.G640C:p.E214Q;	0.995168414301832	0.946
18	47811721	C	T	18	50285351	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon6:c.G640A:p.E214K;CXXC1:NM_014593:exon6:c.G640A:p.E214K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon3:c.G184A:p.E62K;ENSG00000154832:ENST00000589940:exon6:c.G640A:p.E214K;ENSG00000154832:ENST00000412036:exon6:c.G640A:p.E214K;ENSG00000154832:ENST00000586837:exon6:c.G640A:p.E214K;ENSG00000154832:ENST00000285106:exon6:c.G640A:p.E214K;	0.980449274195148	0.84
18	47811722	C	A	18	50285352	y	y	splicing	CXXC1(NM_014593:exon7:c.640-1G>T;NM_001101654:exon7:c.640-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.640-1G>T;ENST00000412036:exon7:c.640-1G>T;ENST00000589940:exon7:c.640-1G>T;ENST00000591474:exon4:c.184-1G>T;ENST00000586837:exon7:c.640-1G>T)	.	.	0.999984920615255	0.926
18	47811722	C	G	18	50285352	y	y	splicing	CXXC1(NM_014593:exon7:c.640-1G>C;NM_001101654:exon7:c.640-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.640-1G>C;ENST00000412036:exon7:c.640-1G>C;ENST00000589940:exon7:c.640-1G>C;ENST00000591474:exon4:c.184-1G>C;ENST00000586837:exon7:c.640-1G>C)	.	.	0.999984920615255	0.924
18	47811722	C	T	18	50285352	y	y	splicing	CXXC1(NM_014593:exon7:c.640-1G>A;NM_001101654:exon7:c.640-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.640-1G>A;ENST00000412036:exon7:c.640-1G>A;ENST00000589940:exon7:c.640-1G>A;ENST00000591474:exon4:c.184-1G>A;ENST00000586837:exon7:c.640-1G>A)	.	.	0.999984920615255	0.926
18	47811723	T	A	18	50285353	y	y	splicing	CXXC1(NM_014593:exon7:c.640-2A>T;NM_001101654:exon7:c.640-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.640-2A>T;ENST00000412036:exon7:c.640-2A>T;ENST00000589940:exon7:c.640-2A>T;ENST00000591474:exon4:c.184-2A>T;ENST00000586837:exon7:c.640-2A>T)	.	.	0.999991919222134	0.922
18	47811723	T	C	18	50285353	y	y	splicing	CXXC1(NM_014593:exon7:c.640-2A>G;NM_001101654:exon7:c.640-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.640-2A>G;ENST00000412036:exon7:c.640-2A>G;ENST00000589940:exon7:c.640-2A>G;ENST00000591474:exon4:c.184-2A>G;ENST00000586837:exon7:c.640-2A>G)	.	.	0.999991919222134	0.918
18	47811723	T	G	18	50285353	y	y	splicing	CXXC1(NM_014593:exon7:c.640-2A>C;NM_001101654:exon7:c.640-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon7:c.640-2A>C;ENST00000412036:exon7:c.640-2A>C;ENST00000589940:exon7:c.640-2A>C;ENST00000591474:exon4:c.184-2A>C;ENST00000586837:exon7:c.640-2A>C)	.	.	0.999991919222134	0.918
18	47811724	G	A	18	50285354	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0385895922568876	0.226
18	47811724	G	C	18	50285354	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999905979490614	0.816
18	47811724	G	T	18	50285354	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.992159287118636	0.878
18	47811725	T	A	18	50285355	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00345264650833253	0.086
18	47811725	T	C	18	50285355	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.010010371100188	0.172
18	47811725	T	G	18	50285355	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0150801588111437	0.152
18	47811726	G	A	18	50285356	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.52676060028118E-4	0.03
18	47811726	G	C	18	50285356	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00718019156730038	0.21
18	47811726	G	T	18	50285356	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0116105342584965	0.188
18	47811727	C	A	18	50285357	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.1077107080273E-4	0.046
18	47811727	C	G	18	50285357	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.905142398181E-4	0.042
18	47811727	C	T	18	50285357	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00170816797305584	0.03
18	47811728	C	A	18	50285358	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.7083271544537E-4	0.056
18	47811728	C	G	18	50285358	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.31762117236848E-4	0.054
18	47811728	C	T	18	50285358	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999431698520341	0.946
18	47811729	G	A	18	50285359	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.56759775141765E-4	0.008
18	47811729	G	C	18	50285359	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00790783196309548	0.128
18	47811729	G	T	18	50285359	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999937186036366	0.972
18	47811730	G	A	18	50285360	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.05804899101769E-4	0.008
18	47811730	G	C	18	50285360	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00633176986051518	0.09
18	47811730	G	T	18	50285360	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00340380324482293	0.114
18	47811731	C	A	18	50285361	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.35081772970558E-4	0.06
18	47811731	C	G	18	50285361	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.55312708989216E-4	0.046
18	47811731	C	T	18	50285361	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00393633374592409	0.148
18	47811732	A	C	18	50285362	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.926700711904026	0.768
18	47811732	A	G	18	50285362	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.028851459733717	0.294
18	47811732	A	T	18	50285362	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999981488314153	0.968
18	47811733	G	A	18	50285363	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.73836997348167E-4	0.01
18	47811733	G	C	18	50285363	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00239541868970215	0.092
18	47811733	G	T	18	50285363	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00830548057598747	0.096
18	47812111	A	C	18	50285741	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0150270524198082	0.048
18	47812111	A	G	18	50285741	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0150270524198082	0.044
18	47812111	A	T	18	50285741	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0145491327842463	0.042
18	47812112	T	A	18	50285742	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00868906259574164	0.212
18	47812112	T	C	18	50285742	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00226592225183273	0.2
18	47812112	T	G	18	50285742	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00142774482163417	0.024
18	47812113	G	A	18	50285743	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.25245241085487E-4	0.014
18	47812113	G	C	18	50285743	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00397696871227954	0.14
18	47812113	G	T	18	50285743	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00452034468058579	0.156
18	47812114	C	A	18	50285744	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999974008508394	0.99
18	47812114	C	G	18	50285744	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999962547394164	0.936
18	47812114	C	T	18	50285744	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999972494611707	0.996
18	47812115	T	A	18	50285745	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.994184673141389	0.88
18	47812115	T	C	18	50285745	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.98988469762219	0.846
18	47812115	T	G	18	50285745	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.893390912298945	0.71
18	47812116	C	A	18	50285746	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999310726892343	0.732
18	47812116	C	G	18	50285746	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.997853894824368	0.722
18	47812116	C	T	18	50285746	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0011433082969098	0.012
18	47812117	A	C	18	50285747	y	y	splicing	CXXC1(NM_014593:exon6:c.639+2T>G;NM_001101654:exon6:c.639+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.639+2T>G;ENST00000412036:exon6:c.639+2T>G;ENST00000589940:exon6:c.639+2T>G;ENST00000591474:exon3:c.183+2T>G;ENST00000589548:exon6:c.639+2T>G;ENST00000586837:exon6:c.639+2T>G)	.	.	0.999990155693597	0.926
18	47812117	A	G	18	50285747	y	y	splicing	CXXC1(NM_014593:exon6:c.639+2T>C;NM_001101654:exon6:c.639+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.639+2T>C;ENST00000412036:exon6:c.639+2T>C;ENST00000589940:exon6:c.639+2T>C;ENST00000591474:exon3:c.183+2T>C;ENST00000589548:exon6:c.639+2T>C;ENST00000586837:exon6:c.639+2T>C)	.	.	0.999986204245957	0.944
18	47812117	A	T	18	50285747	y	y	splicing	CXXC1(NM_014593:exon6:c.639+2T>A;NM_001101654:exon6:c.639+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.639+2T>A;ENST00000412036:exon6:c.639+2T>A;ENST00000589940:exon6:c.639+2T>A;ENST00000591474:exon3:c.183+2T>A;ENST00000589548:exon6:c.639+2T>A;ENST00000586837:exon6:c.639+2T>A)	.	.	0.999990155693597	0.926
18	47812118	C	A	18	50285748	y	y	splicing	CXXC1(NM_014593:exon6:c.639+1G>T;NM_001101654:exon6:c.639+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.639+1G>T;ENST00000412036:exon6:c.639+1G>T;ENST00000589940:exon6:c.639+1G>T;ENST00000591474:exon3:c.183+1G>T;ENST00000589548:exon6:c.639+1G>T;ENST00000586837:exon6:c.639+1G>T)	.	.	0.999986675681007	0.928
18	47812118	C	G	18	50285748	y	y	splicing	CXXC1(NM_014593:exon6:c.639+1G>C;NM_001101654:exon6:c.639+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.639+1G>C;ENST00000412036:exon6:c.639+1G>C;ENST00000589940:exon6:c.639+1G>C;ENST00000591474:exon3:c.183+1G>C;ENST00000589548:exon6:c.639+1G>C;ENST00000586837:exon6:c.639+1G>C)	.	.	0.999986675681007	0.928
18	47812118	C	T	18	50285748	y	y	splicing	CXXC1(NM_014593:exon6:c.639+1G>A;NM_001101654:exon6:c.639+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.639+1G>A;ENST00000412036:exon6:c.639+1G>A;ENST00000589940:exon6:c.639+1G>A;ENST00000591474:exon3:c.183+1G>A;ENST00000589548:exon6:c.639+1G>A;ENST00000586837:exon6:c.639+1G>A)	.	.	0.999986675681007	0.93
18	47812119	C	A	18	50285749	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon5:c.G639T:p.R213R;CXXC1:NM_014593:exon5:c.G639T:p.R213R;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.G183T:p.R61R;ENSG00000154832:ENST00000589940:exon5:c.G639T:p.R213R;ENSG00000154832:ENST00000412036:exon5:c.G639T:p.R213R;ENSG00000154832:ENST00000589548:exon5:c.G639T:p.R213R;ENSG00000154832:ENST00000586837:exon5:c.G639T:p.R213R;ENSG00000154832:ENST00000285106:exon5:c.G639T:p.R213R;	0.999764105115368	0.996
18	47812119	C	G	18	50285749	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon5:c.G639C:p.R213R;CXXC1:NM_014593:exon5:c.G639C:p.R213R;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.G183C:p.R61R;ENSG00000154832:ENST00000589940:exon5:c.G639C:p.R213R;ENSG00000154832:ENST00000412036:exon5:c.G639C:p.R213R;ENSG00000154832:ENST00000589548:exon5:c.G639C:p.R213R;ENSG00000154832:ENST00000586837:exon5:c.G639C:p.R213R;ENSG00000154832:ENST00000285106:exon5:c.G639C:p.R213R;	0.999962510041239	0.988
18	47812119	C	T	18	50285749	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon5:c.G639A:p.R213R;CXXC1:NM_014593:exon5:c.G639A:p.R213R;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.G183A:p.R61R;ENSG00000154832:ENST00000589940:exon5:c.G639A:p.R213R;ENSG00000154832:ENST00000412036:exon5:c.G639A:p.R213R;ENSG00000154832:ENST00000589548:exon5:c.G639A:p.R213R;ENSG00000154832:ENST00000586837:exon5:c.G639A:p.R213R;ENSG00000154832:ENST00000285106:exon5:c.G639A:p.R213R;	0.999896851479641	0.992
18	47812120	C	A	18	50285750	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.G638T:p.R213L;CXXC1:NM_014593:exon5:c.G638T:p.R213L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.G182T:p.R61L;ENSG00000154832:ENST00000589940:exon5:c.G638T:p.R213L;ENSG00000154832:ENST00000412036:exon5:c.G638T:p.R213L;ENSG00000154832:ENST00000589548:exon5:c.G638T:p.R213L;ENSG00000154832:ENST00000586837:exon5:c.G638T:p.R213L;ENSG00000154832:ENST00000285106:exon5:c.G638T:p.R213L;	0.200942199783639	0.352
18	47812120	C	G	18	50285750	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.G638C:p.R213P;CXXC1:NM_014593:exon5:c.G638C:p.R213P;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.G182C:p.R61P;ENSG00000154832:ENST00000589940:exon5:c.G638C:p.R213P;ENSG00000154832:ENST00000412036:exon5:c.G638C:p.R213P;ENSG00000154832:ENST00000589548:exon5:c.G638C:p.R213P;ENSG00000154832:ENST00000586837:exon5:c.G638C:p.R213P;ENSG00000154832:ENST00000285106:exon5:c.G638C:p.R213P;	0.108101812307872	0.29
18	47812120	C	T	18	50285750	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.G638A:p.R213Q;CXXC1:NM_014593:exon5:c.G638A:p.R213Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.G182A:p.R61Q;ENSG00000154832:ENST00000589940:exon5:c.G638A:p.R213Q;ENSG00000154832:ENST00000412036:exon5:c.G638A:p.R213Q;ENSG00000154832:ENST00000589548:exon5:c.G638A:p.R213Q;ENSG00000154832:ENST00000586837:exon5:c.G638A:p.R213Q;ENSG00000154832:ENST00000285106:exon5:c.G638A:p.R213Q;	0.0519000014468393	0.366
18	47812121	G	A	18	50285751	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.C637T:p.R213W;CXXC1:NM_014593:exon5:c.C637T:p.R213W;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.C181T:p.R61W;ENSG00000154832:ENST00000589940:exon5:c.C637T:p.R213W;ENSG00000154832:ENST00000412036:exon5:c.C637T:p.R213W;ENSG00000154832:ENST00000589548:exon5:c.C637T:p.R213W;ENSG00000154832:ENST00000586837:exon5:c.C637T:p.R213W;ENSG00000154832:ENST00000285106:exon5:c.C637T:p.R213W;	0.898865848869383	0.526
18	47812121	G	C	18	50285751	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.C637G:p.R213G;CXXC1:NM_014593:exon5:c.C637G:p.R213G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.C181G:p.R61G;ENSG00000154832:ENST00000589940:exon5:c.C637G:p.R213G;ENSG00000154832:ENST00000412036:exon5:c.C637G:p.R213G;ENSG00000154832:ENST00000589548:exon5:c.C637G:p.R213G;ENSG00000154832:ENST00000586837:exon5:c.C637G:p.R213G;ENSG00000154832:ENST00000285106:exon5:c.C637G:p.R213G;	0.0436009832672806	0.268
18	47812121	G	T	18	50285751	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon5:c.C637A:p.R213R;CXXC1:NM_014593:exon5:c.C637A:p.R213R;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.C181A:p.R61R;ENSG00000154832:ENST00000589940:exon5:c.C637A:p.R213R;ENSG00000154832:ENST00000412036:exon5:c.C637A:p.R213R;ENSG00000154832:ENST00000589548:exon5:c.C637A:p.R213R;ENSG00000154832:ENST00000586837:exon5:c.C637A:p.R213R;ENSG00000154832:ENST00000285106:exon5:c.C637A:p.R213R;	0.00114502471483157	0.034
18	47812297	T	A	18	50285927	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.A461T:p.H154L;CXXC1:NM_014593:exon5:c.A461T:p.H154L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.A5T:p.H2L;ENSG00000154832:ENST00000589940:exon5:c.A461T:p.H154L;ENSG00000154832:ENST00000412036:exon5:c.A461T:p.H154L;ENSG00000154832:ENST00000589548:exon5:c.A461T:p.H154L;ENSG00000154832:ENST00000586837:exon5:c.A461T:p.H154L;ENSG00000154832:ENST00000285106:exon5:c.A461T:p.H154L;	7.01932778044587E-4	0.016
18	47812297	T	C	18	50285927	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.A461G:p.H154R;CXXC1:NM_014593:exon5:c.A461G:p.H154R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.A5G:p.H2R;ENSG00000154832:ENST00000589940:exon5:c.A461G:p.H154R;ENSG00000154832:ENST00000412036:exon5:c.A461G:p.H154R;ENSG00000154832:ENST00000589548:exon5:c.A461G:p.H154R;ENSG00000154832:ENST00000586837:exon5:c.A461G:p.H154R;ENSG00000154832:ENST00000285106:exon5:c.A461G:p.H154R;	0.00103926498604219	0.012
18	47812297	T	G	18	50285927	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.A461C:p.H154P;CXXC1:NM_014593:exon5:c.A461C:p.H154P;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.A5C:p.H2P;ENSG00000154832:ENST00000589940:exon5:c.A461C:p.H154P;ENSG00000154832:ENST00000412036:exon5:c.A461C:p.H154P;ENSG00000154832:ENST00000589548:exon5:c.A461C:p.H154P;ENSG00000154832:ENST00000586837:exon5:c.A461C:p.H154P;ENSG00000154832:ENST00000285106:exon5:c.A461C:p.H154P;	9.28729993719386E-4	0.014
18	47812298	G	A	18	50285928	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.C460T:p.H154Y;CXXC1:NM_014593:exon5:c.C460T:p.H154Y;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.C4T:p.H2Y;ENSG00000154832:ENST00000589940:exon5:c.C460T:p.H154Y;ENSG00000154832:ENST00000412036:exon5:c.C460T:p.H154Y;ENSG00000154832:ENST00000589548:exon5:c.C460T:p.H154Y;ENSG00000154832:ENST00000586837:exon5:c.C460T:p.H154Y;ENSG00000154832:ENST00000285106:exon5:c.C460T:p.H154Y;	0.00155143907165179	0.122
18	47812298	G	C	18	50285928	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.C460G:p.H154D;CXXC1:NM_014593:exon5:c.C460G:p.H154D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.C4G:p.H2D;ENSG00000154832:ENST00000589940:exon5:c.C460G:p.H154D;ENSG00000154832:ENST00000412036:exon5:c.C460G:p.H154D;ENSG00000154832:ENST00000589548:exon5:c.C460G:p.H154D;ENSG00000154832:ENST00000586837:exon5:c.C460G:p.H154D;ENSG00000154832:ENST00000285106:exon5:c.C460G:p.H154D;	8.8967410297175E-5	0.24
18	47812298	G	T	18	50285928	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon5:c.C460A:p.H154N;CXXC1:NM_014593:exon5:c.C460A:p.H154N;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon2:c.C4A:p.H2N;ENSG00000154832:ENST00000589940:exon5:c.C460A:p.H154N;ENSG00000154832:ENST00000412036:exon5:c.C460A:p.H154N;ENSG00000154832:ENST00000589548:exon5:c.C460A:p.H154N;ENSG00000154832:ENST00000586837:exon5:c.C460A:p.H154N;ENSG00000154832:ENST00000285106:exon5:c.C460A:p.H154N;	9.22198302627543E-5	0.0
18	47812299	C	A	18	50285929	y	y	splicing	CXXC1(NM_014593:exon6:c.460-1G>T;NM_001101654:exon6:c.460-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.460-1G>T;ENST00000412036:exon6:c.460-1G>T;ENST00000589940:exon6:c.460-1G>T;ENST00000591474:exon3:c.4-1G>T;ENST00000589548:exon6:c.460-1G>T;ENST00000586837:exon6:c.460-1G>T)	.	.	0.999912583724398	0.774
18	47812299	C	G	18	50285929	y	y	splicing	CXXC1(NM_014593:exon6:c.460-1G>C;NM_001101654:exon6:c.460-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.460-1G>C;ENST00000412036:exon6:c.460-1G>C;ENST00000589940:exon6:c.460-1G>C;ENST00000591474:exon3:c.4-1G>C;ENST00000589548:exon6:c.460-1G>C;ENST00000586837:exon6:c.460-1G>C)	.	.	0.999930929684411	0.79
18	47812299	C	T	18	50285929	y	y	splicing	CXXC1(NM_014593:exon6:c.460-1G>A;NM_001101654:exon6:c.460-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.460-1G>A;ENST00000412036:exon6:c.460-1G>A;ENST00000589940:exon6:c.460-1G>A;ENST00000591474:exon3:c.4-1G>A;ENST00000589548:exon6:c.460-1G>A;ENST00000586837:exon6:c.460-1G>A)	.	.	0.999912583724398	0.774
18	47812300	T	A	18	50285930	y	y	splicing	CXXC1(NM_014593:exon6:c.460-2A>T;NM_001101654:exon6:c.460-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.460-2A>T;ENST00000412036:exon6:c.460-2A>T;ENST00000589940:exon6:c.460-2A>T;ENST00000591474:exon3:c.4-2A>T;ENST00000589548:exon6:c.460-2A>T;ENST00000586837:exon6:c.460-2A>T)	.	.	0.999897685510396	0.636
18	47812300	T	C	18	50285930	y	y	splicing	CXXC1(NM_014593:exon6:c.460-2A>G;NM_001101654:exon6:c.460-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.460-2A>G;ENST00000412036:exon6:c.460-2A>G;ENST00000589940:exon6:c.460-2A>G;ENST00000591474:exon3:c.4-2A>G;ENST00000589548:exon6:c.460-2A>G;ENST00000586837:exon6:c.460-2A>G)	.	.	0.999897685510396	0.644
18	47812300	T	G	18	50285930	y	y	splicing	CXXC1(NM_014593:exon6:c.460-2A>C;NM_001101654:exon6:c.460-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon6:c.460-2A>C;ENST00000412036:exon6:c.460-2A>C;ENST00000589940:exon6:c.460-2A>C;ENST00000591474:exon3:c.4-2A>C;ENST00000589548:exon6:c.460-2A>C;ENST00000586837:exon6:c.460-2A>C)	.	.	0.999897685510396	0.644
18	47812301	G	A	18	50285931	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.01568495885677E-4	0.16
18	47812301	G	C	18	50285931	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.997939579776325	0.656
18	47812301	G	T	18	50285931	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.864507409362083	0.666
18	47812302	C	A	18	50285932	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.71076110372375E-5	0.044
18	47812302	C	G	18	50285932	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.40458121960004E-4	0.138
18	47812302	C	T	18	50285932	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.9124086271514E-5	0.046
18	47812303	A	C	18	50285933	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0848554280641576	0.436
18	47812303	A	G	18	50285933	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.12010011980471E-5	0.064
18	47812303	A	T	18	50285933	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998427646086605	0.722
18	47812304	G	A	18	50285934	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.39596595571905E-5	0.006
18	47812304	G	C	18	50285934	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.33324713263583E-4	0.158
18	47812304	G	T	18	50285934	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.959229413194E-4	0.162
18	47812305	G	A	18	50285935	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.66019900670887E-5	0.134
18	47812305	G	C	18	50285935	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0015389549805181	0.12
18	47812305	G	T	18	50285935	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00139206562073139	0.124
18	47812306	A	C	18	50285936	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.84902814013702E-4	0.128
18	47812306	A	G	18	50285936	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.3601883077445E-4	0.152
18	47812306	A	T	18	50285936	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.51821126034086E-4	0.138
18	47812307	G	A	18	50285937	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.64484931359108E-5	0.114
18	47812307	G	C	18	50285937	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.18835942846141E-4	0.034
18	47812307	G	T	18	50285937	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.31755332078251E-4	0.04
18	47812308	G	A	18	50285938	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.95022554972159E-5	0.018
18	47812308	G	C	18	50285938	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.65043010412511E-4	0.07
18	47812308	G	T	18	50285938	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00208537219620777	0.18
18	47812309	G	A	18	50285939	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.49276562239597E-5	0.12
18	47812309	G	C	18	50285939	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0021660916463623	0.188
18	47812309	G	T	18	50285939	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00432823358429812	0.19
18	47812310	G	A	18	50285940	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.83643701966011E-5	0.028
18	47812310	G	C	18	50285940	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.97855492343667E-4	0.22
18	47812310	G	T	18	50285940	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.99809162766709E-4	0.22
18	47812384	C	A	18	50286014	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00113808744180525	0.032
18	47812384	C	G	18	50286014	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00113808744180525	0.03
18	47812384	C	T	18	50286014	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00116480278010583	0.026
18	47812385	C	A	18	50286015	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.62757388684586E-5	0.0
18	47812385	C	G	18	50286015	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.46978653010511E-5	0.0
18	47812385	C	T	18	50286015	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.4887794681632E-5	0.0
18	47812386	A	C	18	50286016	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00791038095076459	0.224
18	47812386	A	G	18	50286016	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.130215797303057	0.368
18	47812386	A	T	18	50286016	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0868195090065368	0.342
18	47812387	C	A	18	50286017	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.997573647281783	0.884
18	47812387	C	G	18	50286017	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.995853638801225	0.876
18	47812387	C	T	18	50286017	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.990670595683025	0.922
18	47812388	T	A	18	50286018	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.934968503464939	0.59
18	47812388	T	C	18	50286018	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.885092979514972	0.498
18	47812388	T	G	18	50286018	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.669577024157024	0.534
18	47812389	C	A	18	50286019	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00614849165288706	0.196
18	47812389	C	G	18	50286019	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0114259987046671	0.2
18	47812389	C	T	18	50286019	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.30720152359839E-5	0.0
18	47812390	A	C	18	50286020	y	y	splicing	CXXC1(NM_014593:exon5:c.459+2T>G;NM_001101654:exon5:c.459+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.459+2T>G;ENST00000412036:exon5:c.459+2T>G;ENST00000589940:exon5:c.459+2T>G;ENST00000589548:exon5:c.459+2T>G;ENST00000586837:exon5:c.459+2T>G)	.	.	0.999981936328517	0.916
18	47812390	A	G	18	50286020	y	y	splicing	CXXC1(NM_014593:exon5:c.459+2T>C;NM_001101654:exon5:c.459+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.459+2T>C;ENST00000412036:exon5:c.459+2T>C;ENST00000589940:exon5:c.459+2T>C;ENST00000589548:exon5:c.459+2T>C;ENST00000586837:exon5:c.459+2T>C)	.	.	0.999887565915253	0.776
18	47812390	A	T	18	50286020	y	y	splicing	CXXC1(NM_014593:exon5:c.459+2T>A;NM_001101654:exon5:c.459+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.459+2T>A;ENST00000412036:exon5:c.459+2T>A;ENST00000589940:exon5:c.459+2T>A;ENST00000589548:exon5:c.459+2T>A;ENST00000586837:exon5:c.459+2T>A)	.	.	0.99998254518941	0.934
18	47812391	C	A	18	50286021	y	y	splicing	CXXC1(NM_014593:exon5:c.459+1G>T;NM_001101654:exon5:c.459+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.459+1G>T;ENST00000412036:exon5:c.459+1G>T;ENST00000589940:exon5:c.459+1G>T;ENST00000589548:exon5:c.459+1G>T;ENST00000586837:exon5:c.459+1G>T)	.	.	0.999962035718413	0.918
18	47812391	C	G	18	50286021	y	y	splicing	CXXC1(NM_014593:exon5:c.459+1G>C;NM_001101654:exon5:c.459+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.459+1G>C;ENST00000412036:exon5:c.459+1G>C;ENST00000589940:exon5:c.459+1G>C;ENST00000589548:exon5:c.459+1G>C;ENST00000586837:exon5:c.459+1G>C)	.	.	0.999962035718413	0.936
18	47812391	C	T	18	50286021	y	y	splicing	CXXC1(NM_014593:exon5:c.459+1G>A;NM_001101654:exon5:c.459+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.459+1G>A;ENST00000412036:exon5:c.459+1G>A;ENST00000589940:exon5:c.459+1G>A;ENST00000589548:exon5:c.459+1G>A;ENST00000586837:exon5:c.459+1G>A)	.	.	0.999962035718413	0.942
18	47812392	C	A	18	50286022	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.G459T:p.Q153H;CXXC1:NM_014593:exon4:c.G459T:p.Q153H;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.G459T:p.Q153H;ENSG00000154832:ENST00000412036:exon4:c.G459T:p.Q153H;ENSG00000154832:ENST00000589548:exon4:c.G459T:p.Q153H;ENSG00000154832:ENST00000586837:exon4:c.G459T:p.Q153H;ENSG00000154832:ENST00000285106:exon4:c.G459T:p.Q153H;	0.74199181413059	0.572
18	47812392	C	G	18	50286022	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.G459C:p.Q153H;CXXC1:NM_014593:exon4:c.G459C:p.Q153H;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.G459C:p.Q153H;ENSG00000154832:ENST00000412036:exon4:c.G459C:p.Q153H;ENSG00000154832:ENST00000589548:exon4:c.G459C:p.Q153H;ENSG00000154832:ENST00000586837:exon4:c.G459C:p.Q153H;ENSG00000154832:ENST00000285106:exon4:c.G459C:p.Q153H;	0.94095420259175	0.588
18	47812392	C	T	18	50286022	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon4:c.G459A:p.Q153Q;CXXC1:NM_014593:exon4:c.G459A:p.Q153Q;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.G459A:p.Q153Q;ENSG00000154832:ENST00000412036:exon4:c.G459A:p.Q153Q;ENSG00000154832:ENST00000589548:exon4:c.G459A:p.Q153Q;ENSG00000154832:ENST00000586837:exon4:c.G459A:p.Q153Q;ENSG00000154832:ENST00000285106:exon4:c.G459A:p.Q153Q;	0.54453316432013	0.52
18	47812393	T	A	18	50286023	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.A458T:p.Q153L;CXXC1:NM_014593:exon4:c.A458T:p.Q153L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.A458T:p.Q153L;ENSG00000154832:ENST00000412036:exon4:c.A458T:p.Q153L;ENSG00000154832:ENST00000589548:exon4:c.A458T:p.Q153L;ENSG00000154832:ENST00000586837:exon4:c.A458T:p.Q153L;ENSG00000154832:ENST00000285106:exon4:c.A458T:p.Q153L;	0.391455767143812	0.564
18	47812393	T	C	18	50286023	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.A458G:p.Q153R;CXXC1:NM_014593:exon4:c.A458G:p.Q153R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.A458G:p.Q153R;ENSG00000154832:ENST00000412036:exon4:c.A458G:p.Q153R;ENSG00000154832:ENST00000589548:exon4:c.A458G:p.Q153R;ENSG00000154832:ENST00000586837:exon4:c.A458G:p.Q153R;ENSG00000154832:ENST00000285106:exon4:c.A458G:p.Q153R;	0.334327785448081	0.506
18	47812393	T	G	18	50286023	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.A458C:p.Q153P;CXXC1:NM_014593:exon4:c.A458C:p.Q153P;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.A458C:p.Q153P;ENSG00000154832:ENST00000412036:exon4:c.A458C:p.Q153P;ENSG00000154832:ENST00000589548:exon4:c.A458C:p.Q153P;ENSG00000154832:ENST00000586837:exon4:c.A458C:p.Q153P;ENSG00000154832:ENST00000285106:exon4:c.A458C:p.Q153P;	0.273843298591555	0.474
18	47812394	G	A	18	50286024	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon4:c.C457T:p.Q153X;CXXC1:NM_014593:exon4:c.C457T:p.Q153X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000589940:exon4:c.C457T:p.Q153X;ENSG00000154832:ENST00000412036:exon4:c.C457T:p.Q153X;ENSG00000154832:ENST00000589548:exon4:c.C457T:p.Q153X;ENSG00000154832:ENST00000586837:exon4:c.C457T:p.Q153X;ENSG00000154832:ENST00000285106:exon4:c.C457T:p.Q153X;	0.935000102127476	0.65
18	47812394	G	C	18	50286024	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.C457G:p.Q153E;CXXC1:NM_014593:exon4:c.C457G:p.Q153E;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.C457G:p.Q153E;ENSG00000154832:ENST00000412036:exon4:c.C457G:p.Q153E;ENSG00000154832:ENST00000589548:exon4:c.C457G:p.Q153E;ENSG00000154832:ENST00000586837:exon4:c.C457G:p.Q153E;ENSG00000154832:ENST00000285106:exon4:c.C457G:p.Q153E;	1.2180121996494E-4	0.04
18	47812394	G	T	18	50286024	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.C457A:p.Q153K;CXXC1:NM_014593:exon4:c.C457A:p.Q153K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.C457A:p.Q153K;ENSG00000154832:ENST00000412036:exon4:c.C457A:p.Q153K;ENSG00000154832:ENST00000589548:exon4:c.C457A:p.Q153K;ENSG00000154832:ENST00000586837:exon4:c.C457A:p.Q153K;ENSG00000154832:ENST00000285106:exon4:c.C457A:p.Q153K;	2.83860411949621E-4	0.078
18	47812626	C	A	18	50286256	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.G225T:p.E75D;CXXC1:NM_014593:exon4:c.G225T:p.E75D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.G225T:p.E75D;ENSG00000154832:ENST00000412036:exon4:c.G225T:p.E75D;ENSG00000154832:ENST00000589548:exon4:c.G225T:p.E75D;ENSG00000154832:ENST00000586837:exon4:c.G225T:p.E75D;ENSG00000154832:ENST00000285106:exon4:c.G225T:p.E75D;	3.14803508191898E-4	0.002
18	47812626	C	G	18	50286256	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.G225C:p.E75D;CXXC1:NM_014593:exon4:c.G225C:p.E75D;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.G225C:p.E75D;ENSG00000154832:ENST00000412036:exon4:c.G225C:p.E75D;ENSG00000154832:ENST00000589548:exon4:c.G225C:p.E75D;ENSG00000154832:ENST00000586837:exon4:c.G225C:p.E75D;ENSG00000154832:ENST00000285106:exon4:c.G225C:p.E75D;	1.63846103005366E-4	0.0
18	47812626	C	T	18	50286256	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon4:c.G225A:p.E75E;CXXC1:NM_014593:exon4:c.G225A:p.E75E;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.G225A:p.E75E;ENSG00000154832:ENST00000412036:exon4:c.G225A:p.E75E;ENSG00000154832:ENST00000589548:exon4:c.G225A:p.E75E;ENSG00000154832:ENST00000586837:exon4:c.G225A:p.E75E;ENSG00000154832:ENST00000285106:exon4:c.G225A:p.E75E;	1.55046008593428E-4	0.088
18	47812627	T	A	18	50286257	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.A224T:p.E75V;CXXC1:NM_014593:exon4:c.A224T:p.E75V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.A224T:p.E75V;ENSG00000154832:ENST00000412036:exon4:c.A224T:p.E75V;ENSG00000154832:ENST00000589548:exon4:c.A224T:p.E75V;ENSG00000154832:ENST00000586837:exon4:c.A224T:p.E75V;ENSG00000154832:ENST00000285106:exon4:c.A224T:p.E75V;	0.0596726638020268	0.158
18	47812627	T	C	18	50286257	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.A224G:p.E75G;CXXC1:NM_014593:exon4:c.A224G:p.E75G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.A224G:p.E75G;ENSG00000154832:ENST00000412036:exon4:c.A224G:p.E75G;ENSG00000154832:ENST00000589548:exon4:c.A224G:p.E75G;ENSG00000154832:ENST00000586837:exon4:c.A224G:p.E75G;ENSG00000154832:ENST00000285106:exon4:c.A224G:p.E75G;	0.00185907208108175	0.014
18	47812627	T	G	18	50286257	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon4:c.A224C:p.E75A;CXXC1:NM_014593:exon4:c.A224C:p.E75A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon4:c.A224C:p.E75A;ENSG00000154832:ENST00000412036:exon4:c.A224C:p.E75A;ENSG00000154832:ENST00000589548:exon4:c.A224C:p.E75A;ENSG00000154832:ENST00000586837:exon4:c.A224C:p.E75A;ENSG00000154832:ENST00000285106:exon4:c.A224C:p.E75A;	0.0290830792328303	0.14
18	47812628	C	A	18	50286258	y	y	splicing	CXXC1(NM_014593:exon5:c.224-1G>T;NM_001101654:exon5:c.224-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.224-1G>T;ENST00000412036:exon5:c.224-1G>T;ENST00000589940:exon5:c.224-1G>T;ENST00000589548:exon5:c.224-1G>T;ENST00000586837:exon5:c.224-1G>T)	.	.	0.999974839014821	0.846
18	47812628	C	G	18	50286258	y	y	splicing	CXXC1(NM_014593:exon5:c.224-1G>C;NM_001101654:exon5:c.224-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.224-1G>C;ENST00000412036:exon5:c.224-1G>C;ENST00000589940:exon5:c.224-1G>C;ENST00000589548:exon5:c.224-1G>C;ENST00000586837:exon5:c.224-1G>C)	.	.	0.999974839014821	0.848
18	47812628	C	T	18	50286258	y	y	splicing	CXXC1(NM_014593:exon5:c.224-1G>A;NM_001101654:exon5:c.224-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.224-1G>A;ENST00000412036:exon5:c.224-1G>A;ENST00000589940:exon5:c.224-1G>A;ENST00000589548:exon5:c.224-1G>A;ENST00000586837:exon5:c.224-1G>A)	.	.	0.999974839014821	0.864
18	47812629	T	A	18	50286259	y	y	splicing	CXXC1(NM_014593:exon5:c.224-2A>T;NM_001101654:exon5:c.224-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.224-2A>T;ENST00000412036:exon5:c.224-2A>T;ENST00000589940:exon5:c.224-2A>T;ENST00000589548:exon5:c.224-2A>T;ENST00000586837:exon5:c.224-2A>T)	.	.	0.99998382861657	0.864
18	47812629	T	C	18	50286259	y	y	splicing	CXXC1(NM_014593:exon5:c.224-2A>G;NM_001101654:exon5:c.224-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.224-2A>G;ENST00000412036:exon5:c.224-2A>G;ENST00000589940:exon5:c.224-2A>G;ENST00000589548:exon5:c.224-2A>G;ENST00000586837:exon5:c.224-2A>G)	.	.	0.99998382861657	0.852
18	47812629	T	G	18	50286259	y	y	splicing	CXXC1(NM_014593:exon5:c.224-2A>C;NM_001101654:exon5:c.224-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon5:c.224-2A>C;ENST00000412036:exon5:c.224-2A>C;ENST00000589940:exon5:c.224-2A>C;ENST00000589548:exon5:c.224-2A>C;ENST00000586837:exon5:c.224-2A>C)	.	.	0.99998382861657	0.852
18	47812630	G	A	18	50286260	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0195893137410875	0.23
18	47812630	G	C	18	50286260	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999618634950209	0.818
18	47812630	G	T	18	50286260	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.988821795010409	0.816
18	47812631	T	A	18	50286261	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.65821467609328E-5	0.032
18	47812631	T	C	18	50286261	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.052795458739E-6	0.052
18	47812631	T	G	18	50286261	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.44860911950899E-5	0.016
18	47812632	G	A	18	50286262	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.33376556043937E-5	0.006
18	47812632	G	C	18	50286262	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.26283825321263E-4	0.104
18	47812632	G	T	18	50286262	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.09970910404104E-4	0.068
18	47812633	G	A	18	50286263	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.52648391924155E-5	0.058
18	47812633	G	C	18	50286263	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00566794563839415	0.314
18	47812633	G	T	18	50286263	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00353528011719244	0.256
18	47812634	G	A	18	50286264	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.28726998631029E-5	0.032
18	47812634	G	C	18	50286264	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00154990208106405	0.09
18	47812634	G	T	18	50286264	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00187530438035562	0.074
18	47812635	G	A	18	50286265	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.01828930401836E-5	0.014
18	47812635	G	C	18	50286265	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.25983339927893E-4	0.052
18	47812635	G	T	18	50286265	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.9165673161862E-4	0.13
18	47812636	C	A	18	50286266	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.27094858196045E-5	0.008
18	47812636	C	G	18	50286266	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.29147115741734E-5	0.002
18	47812636	C	T	18	50286266	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	8.91555205764156E-5	0.002
18	47812637	A	C	18	50286267	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00843294489055723	0.158
18	47812637	A	G	18	50286267	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.93377052270252E-4	0.026
18	47812637	A	T	18	50286267	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999910929574459	0.98
18	47812638	G	A	18	50286268	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.51171953892603E-4	0.0
18	47812638	G	C	18	50286268	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00291359718031967	0.078
18	47812638	G	T	18	50286268	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0076678506581148	0.14
18	47812639	A	C	18	50286269	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0163326496269543	0.322
18	47812639	A	G	18	50286269	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00474178417779568	0.066
18	47812639	A	T	18	50286269	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0148991647050739	0.362
18	47812901	G	A	18	50286531	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.03279499609976E-4	0.0
18	47812901	G	C	18	50286531	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.8345511952494E-5	0.0
18	47812901	G	T	18	50286531	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.72863743782781E-5	0.0
18	47812902	C	A	18	50286532	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.29258811206718E-5	0.13
18	47812902	C	G	18	50286532	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.22308160246672E-5	0.0
18	47812902	C	T	18	50286532	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.22308160246672E-5	0.002
18	47812903	C	A	18	50286533	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.18478005082363E-5	0.002
18	47812903	C	G	18	50286533	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.40925910670032E-5	0.02
18	47812903	C	T	18	50286533	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.35665064351174E-5	0.002
18	47812904	C	A	18	50286534	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999687126656867	0.758
18	47812904	C	G	18	50286534	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.995795758078929	0.656
18	47812904	C	T	18	50286534	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999406102318627	0.748
18	47812905	T	A	18	50286535	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.981925804054196	0.662
18	47812905	T	C	18	50286535	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.988409543095387	0.718
18	47812905	T	G	18	50286535	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.926247504482086	0.54
18	47812906	C	A	18	50286536	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.305448752122331	0.404
18	47812906	C	G	18	50286536	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.419742361507476	0.39
18	47812906	C	T	18	50286536	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.54176041213404E-5	0.0
18	47812907	A	C	18	50286537	y	y	splicing	CXXC1(NM_014593:exon4:c.223+2T>G;NM_001101654:exon4:c.223+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.223+2T>G;ENST00000412036:exon4:c.223+2T>G;ENST00000589940:exon4:c.223+2T>G;ENST00000589548:exon4:c.223+2T>G;ENST00000586837:exon4:c.223+2T>G)	.	.	0.999189292038172	0.63
18	47812907	A	G	18	50286537	y	y	splicing	CXXC1(NM_014593:exon4:c.223+2T>C;NM_001101654:exon4:c.223+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.223+2T>C;ENST00000412036:exon4:c.223+2T>C;ENST00000589940:exon4:c.223+2T>C;ENST00000589548:exon4:c.223+2T>C;ENST00000586837:exon4:c.223+2T>C)	.	.	0.995476384203976	0.598
18	47812907	A	T	18	50286537	y	y	splicing	CXXC1(NM_014593:exon4:c.223+2T>A;NM_001101654:exon4:c.223+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.223+2T>A;ENST00000412036:exon4:c.223+2T>A;ENST00000589940:exon4:c.223+2T>A;ENST00000589548:exon4:c.223+2T>A;ENST00000586837:exon4:c.223+2T>A)	.	.	0.999335631278312	0.63
18	47812908	C	A	18	50286538	y	y	splicing	CXXC1(NM_014593:exon4:c.223+1G>T;NM_001101654:exon4:c.223+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.223+1G>T;ENST00000412036:exon4:c.223+1G>T;ENST00000589940:exon4:c.223+1G>T;ENST00000589548:exon4:c.223+1G>T;ENST00000586837:exon4:c.223+1G>T)	.	.	0.99915929938084	0.598
18	47812908	C	G	18	50286538	y	y	splicing	CXXC1(NM_014593:exon4:c.223+1G>C;NM_001101654:exon4:c.223+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.223+1G>C;ENST00000412036:exon4:c.223+1G>C;ENST00000589940:exon4:c.223+1G>C;ENST00000589548:exon4:c.223+1G>C;ENST00000586837:exon4:c.223+1G>C)	.	.	0.999335631278312	0.616
18	47812908	C	T	18	50286538	y	y	splicing	CXXC1(NM_014593:exon4:c.223+1G>A;NM_001101654:exon4:c.223+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.223+1G>A;ENST00000412036:exon4:c.223+1G>A;ENST00000589940:exon4:c.223+1G>A;ENST00000589548:exon4:c.223+1G>A;ENST00000586837:exon4:c.223+1G>A)	.	.	0.99915929938084	0.618
18	47812909	C	A	18	50286539	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon3:c.G223T:p.E75X;CXXC1:NM_014593:exon3:c.G223T:p.E75X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000589940:exon3:c.G223T:p.E75X;ENSG00000154832:ENST00000412036:exon3:c.G223T:p.E75X;ENSG00000154832:ENST00000589548:exon3:c.G223T:p.E75X;ENSG00000154832:ENST00000586837:exon3:c.G223T:p.E75X;ENSG00000154832:ENST00000285106:exon3:c.G223T:p.E75X;	0.999704853526503	0.982
18	47812909	C	G	18	50286539	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.G223C:p.E75Q;CXXC1:NM_014593:exon3:c.G223C:p.E75Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.G223C:p.E75Q;ENSG00000154832:ENST00000412036:exon3:c.G223C:p.E75Q;ENSG00000154832:ENST00000589548:exon3:c.G223C:p.E75Q;ENSG00000154832:ENST00000586837:exon3:c.G223C:p.E75Q;ENSG00000154832:ENST00000285106:exon3:c.G223C:p.E75Q;	0.999938701851072	1.0
18	47812909	C	T	18	50286539	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.G223A:p.E75K;CXXC1:NM_014593:exon3:c.G223A:p.E75K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.G223A:p.E75K;ENSG00000154832:ENST00000412036:exon3:c.G223A:p.E75K;ENSG00000154832:ENST00000589548:exon3:c.G223A:p.E75K;ENSG00000154832:ENST00000586837:exon3:c.G223A:p.E75K;ENSG00000154832:ENST00000285106:exon3:c.G223A:p.E75K;	0.997765852380827	0.986
18	47812910	T	A	18	50286540	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.A222T:p.R74S;CXXC1:NM_014593:exon3:c.A222T:p.R74S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.A222T:p.R74S;ENSG00000154832:ENST00000412036:exon3:c.A222T:p.R74S;ENSG00000154832:ENST00000589548:exon3:c.A222T:p.R74S;ENSG00000154832:ENST00000586837:exon3:c.A222T:p.R74S;ENSG00000154832:ENST00000285106:exon3:c.A222T:p.R74S;	0.994292525131406	0.912
18	47812910	T	C	18	50286540	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon3:c.A222G:p.R74R;CXXC1:NM_014593:exon3:c.A222G:p.R74R;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.A222G:p.R74R;ENSG00000154832:ENST00000412036:exon3:c.A222G:p.R74R;ENSG00000154832:ENST00000589548:exon3:c.A222G:p.R74R;ENSG00000154832:ENST00000586837:exon3:c.A222G:p.R74R;ENSG00000154832:ENST00000285106:exon3:c.A222G:p.R74R;	0.974785318174952	0.71
18	47812910	T	G	18	50286540	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.A222C:p.R74S;CXXC1:NM_014593:exon3:c.A222C:p.R74S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.A222C:p.R74S;ENSG00000154832:ENST00000412036:exon3:c.A222C:p.R74S;ENSG00000154832:ENST00000589548:exon3:c.A222C:p.R74S;ENSG00000154832:ENST00000586837:exon3:c.A222C:p.R74S;ENSG00000154832:ENST00000285106:exon3:c.A222C:p.R74S;	0.625040659801025	0.742
18	47812911	C	A	18	50286541	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.G221T:p.R74I;CXXC1:NM_014593:exon3:c.G221T:p.R74I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.G221T:p.R74I;ENSG00000154832:ENST00000412036:exon3:c.G221T:p.R74I;ENSG00000154832:ENST00000589548:exon3:c.G221T:p.R74I;ENSG00000154832:ENST00000586837:exon3:c.G221T:p.R74I;ENSG00000154832:ENST00000285106:exon3:c.G221T:p.R74I;	0.0619698326453254	0.166
18	47812911	C	G	18	50286541	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.G221C:p.R74T;CXXC1:NM_014593:exon3:c.G221C:p.R74T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.G221C:p.R74T;ENSG00000154832:ENST00000412036:exon3:c.G221C:p.R74T;ENSG00000154832:ENST00000589548:exon3:c.G221C:p.R74T;ENSG00000154832:ENST00000586837:exon3:c.G221C:p.R74T;ENSG00000154832:ENST00000285106:exon3:c.G221C:p.R74T;	1.27204671358117E-4	0.008
18	47812911	C	T	18	50286541	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.G221A:p.R74K;CXXC1:NM_014593:exon3:c.G221A:p.R74K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.G221A:p.R74K;ENSG00000154832:ENST00000412036:exon3:c.G221A:p.R74K;ENSG00000154832:ENST00000589548:exon3:c.G221A:p.R74K;ENSG00000154832:ENST00000586837:exon3:c.G221A:p.R74K;ENSG00000154832:ENST00000285106:exon3:c.G221A:p.R74K;	2.6855492469249E-4	0.0
18	47813008	C	A	18	50286638	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.G124T:p.G42W;CXXC1:NM_014593:exon3:c.G124T:p.G42W;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.G124T:p.G42W;ENSG00000154832:ENST00000412036:exon3:c.G124T:p.G42W;ENSG00000154832:ENST00000589548:exon3:c.G124T:p.G42W;ENSG00000154832:ENST00000586837:exon3:c.G124T:p.G42W;ENSG00000154832:ENST00000285106:exon3:c.G124T:p.G42W;	1.183892333833E-4	0.022
18	47813008	C	G	18	50286638	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.G124C:p.G42R;CXXC1:NM_014593:exon3:c.G124C:p.G42R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.G124C:p.G42R;ENSG00000154832:ENST00000412036:exon3:c.G124C:p.G42R;ENSG00000154832:ENST00000589548:exon3:c.G124C:p.G42R;ENSG00000154832:ENST00000586837:exon3:c.G124C:p.G42R;ENSG00000154832:ENST00000285106:exon3:c.G124C:p.G42R;	0.00984728626579851	0.102
18	47813008	C	T	18	50286638	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.G124A:p.G42R;CXXC1:NM_014593:exon3:c.G124A:p.G42R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.G124A:p.G42R;ENSG00000154832:ENST00000412036:exon3:c.G124A:p.G42R;ENSG00000154832:ENST00000589548:exon3:c.G124A:p.G42R;ENSG00000154832:ENST00000586837:exon3:c.G124A:p.G42R;ENSG00000154832:ENST00000285106:exon3:c.G124A:p.G42R;	0.0470436042752218	0.106
18	47813009	G	A	18	50286639	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon3:c.C123T:p.I41I;CXXC1:NM_014593:exon3:c.C123T:p.I41I;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.C123T:p.I41I;ENSG00000154832:ENST00000412036:exon3:c.C123T:p.I41I;ENSG00000154832:ENST00000589548:exon3:c.C123T:p.I41I;ENSG00000154832:ENST00000586837:exon3:c.C123T:p.I41I;ENSG00000154832:ENST00000285106:exon3:c.C123T:p.I41I;	9.21232535613258E-4	0.092
18	47813009	G	C	18	50286639	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon3:c.C123G:p.I41M;CXXC1:NM_014593:exon3:c.C123G:p.I41M;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.C123G:p.I41M;ENSG00000154832:ENST00000412036:exon3:c.C123G:p.I41M;ENSG00000154832:ENST00000589548:exon3:c.C123G:p.I41M;ENSG00000154832:ENST00000586837:exon3:c.C123G:p.I41M;ENSG00000154832:ENST00000285106:exon3:c.C123G:p.I41M;	2.7830016480566E-4	0.16
18	47813009	G	T	18	50286639	y	y	exonic	CXXC1	synonymous SNV	CXXC1:NM_001101654:exon3:c.C123A:p.I41I;CXXC1:NM_014593:exon3:c.C123A:p.I41I;	exonic	ENSG00000154832	synonymous SNV	ENSG00000154832:ENST00000589940:exon3:c.C123A:p.I41I;ENSG00000154832:ENST00000412036:exon3:c.C123A:p.I41I;ENSG00000154832:ENST00000589548:exon3:c.C123A:p.I41I;ENSG00000154832:ENST00000586837:exon3:c.C123A:p.I41I;ENSG00000154832:ENST00000285106:exon3:c.C123A:p.I41I;	9.33822139356287E-5	0.0
18	47813010	C	A	18	50286640	y	y	splicing	CXXC1(NM_014593:exon4:c.123-1G>T;NM_001101654:exon4:c.123-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.123-1G>T;ENST00000412036:exon4:c.123-1G>T;ENST00000589940:exon4:c.123-1G>T;ENST00000589548:exon4:c.123-1G>T;ENST00000586837:exon4:c.123-1G>T)	.	.	0.999967305459904	0.96
18	47813010	C	G	18	50286640	y	y	splicing	CXXC1(NM_014593:exon4:c.123-1G>C;NM_001101654:exon4:c.123-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.123-1G>C;ENST00000412036:exon4:c.123-1G>C;ENST00000589940:exon4:c.123-1G>C;ENST00000589548:exon4:c.123-1G>C;ENST00000586837:exon4:c.123-1G>C)	.	.	0.999967305459904	0.958
18	47813010	C	T	18	50286640	y	y	splicing	CXXC1(NM_014593:exon4:c.123-1G>A;NM_001101654:exon4:c.123-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.123-1G>A;ENST00000412036:exon4:c.123-1G>A;ENST00000589940:exon4:c.123-1G>A;ENST00000589548:exon4:c.123-1G>A;ENST00000586837:exon4:c.123-1G>A)	.	.	0.999967305459904	0.962
18	47813011	T	A	18	50286641	y	y	splicing	CXXC1(NM_014593:exon4:c.123-2A>T;NM_001101654:exon4:c.123-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.123-2A>T;ENST00000412036:exon4:c.123-2A>T;ENST00000589940:exon4:c.123-2A>T;ENST00000589548:exon4:c.123-2A>T;ENST00000586837:exon4:c.123-2A>T)	.	.	0.999990644983658	0.952
18	47813011	T	C	18	50286641	y	y	splicing	CXXC1(NM_014593:exon4:c.123-2A>G;NM_001101654:exon4:c.123-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.123-2A>G;ENST00000412036:exon4:c.123-2A>G;ENST00000589940:exon4:c.123-2A>G;ENST00000589548:exon4:c.123-2A>G;ENST00000586837:exon4:c.123-2A>G)	.	.	0.999986886963396	0.906
18	47813011	T	G	18	50286641	y	y	splicing	CXXC1(NM_014593:exon4:c.123-2A>C;NM_001101654:exon4:c.123-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon4:c.123-2A>C;ENST00000412036:exon4:c.123-2A>C;ENST00000589940:exon4:c.123-2A>C;ENST00000589548:exon4:c.123-2A>C;ENST00000586837:exon4:c.123-2A>C)	.	.	0.999986886963396	0.896
18	47813012	G	A	18	50286642	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0102098142247153	0.262
18	47813012	G	C	18	50286642	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999870706500177	0.844
18	47813012	G	T	18	50286642	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.992340244176357	0.864
18	47813013	C	A	18	50286643	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.30934717480536E-5	0.004
18	47813013	C	G	18	50286643	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.61294046873774E-5	0.006
18	47813013	C	T	18	50286643	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.33291267992309E-5	0.002
18	47813014	A	C	18	50286644	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00574724930058474	0.192
18	47813014	A	G	18	50286644	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.84405097673175E-5	0.046
18	47813014	A	T	18	50286644	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.744913518841815	0.672
18	47813015	G	A	18	50286645	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.60433886793066E-5	0.0
18	47813015	G	C	18	50286645	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.72896484489484E-4	0.072
18	47813015	G	T	18	50286645	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.48990270312635E-4	0.074
18	47813016	A	C	18	50286646	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0106976076192382	0.192
18	47813016	A	G	18	50286646	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.43617279102064E-4	0.056
18	47813016	A	T	18	50286646	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00451662066840166	0.082
18	47813017	G	A	18	50286647	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.98137777261032E-5	0.0
18	47813017	G	C	18	50286647	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.32603060673564E-4	0.054
18	47813017	G	T	18	50286647	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.11570230546017E-4	0.122
18	47813018	G	A	18	50286648	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.65314094944746E-5	0.002
18	47813018	G	C	18	50286648	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00201495693206213	0.154
18	47813018	G	T	18	50286648	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.29251724430063E-4	0.084
18	47813019	A	C	18	50286649	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999930042506818	0.97
18	47813019	A	G	18	50286649	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00478054555491567	0.094
18	47813019	A	T	18	50286649	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00380294560841442	0.2
18	47813020	T	A	18	50286650	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.23078400941664E-4	0.134
18	47813020	T	C	18	50286650	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.31358098860475E-4	0.014
18	47813020	T	G	18	50286650	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.47150475345762E-5	0.008
18	47813021	G	A	18	50286651	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.48652145016069E-5	0.0
18	47813021	G	C	18	50286651	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.93326340373835E-4	0.094
18	47813021	G	T	18	50286651	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.40404152341347E-4	0.07
18	47813102	G	A	18	50286732	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.86168873868597E-5	0.028
18	47813102	G	C	18	50286732	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.55874083425316E-6	0.004
18	47813102	G	T	18	50286732	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.93660887042237E-6	0.036
18	47813103	C	A	18	50286733	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.13876617712511E-4	0.03
18	47813103	C	G	18	50286733	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.81474896170976E-5	0.0
18	47813103	C	T	18	50286733	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.81104709051921E-5	0.0
18	47813104	G	A	18	50286734	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.7189854472497E-4	0.06
18	47813104	G	C	18	50286734	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.94931448786471E-4	0.07
18	47813104	G	T	18	50286734	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.064937015406836	0.18
18	47813105	C	A	18	50286735	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999988595445049	0.986
18	47813105	C	G	18	50286735	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999988595445049	1.0
18	47813105	C	T	18	50286735	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99997863805815	0.998
18	47813106	T	A	18	50286736	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99990163397692	0.938
18	47813106	T	C	18	50286736	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999907194124135	0.942
18	47813106	T	G	18	50286736	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999275364881102	0.898
18	47813107	C	A	18	50286737	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99953571815599	0.774
18	47813107	C	G	18	50286737	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999394681483792	0.794
18	47813107	C	T	18	50286737	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00324683720670804	0.05
18	47813108	A	C	18	50286738	y	y	splicing	CXXC1(NM_014593:exon3:c.122+2T>G;NM_001101654:exon3:c.122+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.122+2T>G;ENST00000412036:exon3:c.122+2T>G;ENST00000589940:exon3:c.122+2T>G;ENST00000589548:exon3:c.122+2T>G;ENST00000586837:exon3:c.122+2T>G)	.	.	0.999994047430537	0.936
18	47813108	A	G	18	50286738	y	y	splicing	CXXC1(NM_014593:exon3:c.122+2T>C;NM_001101654:exon3:c.122+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.122+2T>C;ENST00000412036:exon3:c.122+2T>C;ENST00000589940:exon3:c.122+2T>C;ENST00000589548:exon3:c.122+2T>C;ENST00000586837:exon3:c.122+2T>C)	.	.	0.999961239754252	0.868
18	47813108	A	T	18	50286738	y	y	splicing	CXXC1(NM_014593:exon3:c.122+2T>A;NM_001101654:exon3:c.122+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.122+2T>A;ENST00000412036:exon3:c.122+2T>A;ENST00000589940:exon3:c.122+2T>A;ENST00000589548:exon3:c.122+2T>A;ENST00000586837:exon3:c.122+2T>A)	.	.	0.999994047430537	0.936
18	47813109	C	A	18	50286739	y	y	splicing	CXXC1(NM_014593:exon3:c.122+1G>T;NM_001101654:exon3:c.122+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.122+1G>T;ENST00000412036:exon3:c.122+1G>T;ENST00000589940:exon3:c.122+1G>T;ENST00000589548:exon3:c.122+1G>T;ENST00000586837:exon3:c.122+1G>T)	.	.	0.999992861718126	0.938
18	47813109	C	G	18	50286739	y	y	splicing	CXXC1(NM_014593:exon3:c.122+1G>C;NM_001101654:exon3:c.122+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.122+1G>C;ENST00000412036:exon3:c.122+1G>C;ENST00000589940:exon3:c.122+1G>C;ENST00000589548:exon3:c.122+1G>C;ENST00000586837:exon3:c.122+1G>C)	.	.	0.999992861718126	0.938
18	47813109	C	T	18	50286739	y	y	splicing	CXXC1(NM_014593:exon3:c.122+1G>A;NM_001101654:exon3:c.122+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.122+1G>A;ENST00000412036:exon3:c.122+1G>A;ENST00000589940:exon3:c.122+1G>A;ENST00000589548:exon3:c.122+1G>A;ENST00000586837:exon3:c.122+1G>A)	.	.	0.999992861718126	0.938
18	47813110	A	C	18	50286740	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.T122G:p.I41S;CXXC1:NM_014593:exon2:c.T122G:p.I41S;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.T122G:p.I41S;ENSG00000154832:ENST00000412036:exon2:c.T122G:p.I41S;ENSG00000154832:ENST00000589548:exon2:c.T122G:p.I41S;ENSG00000154832:ENST00000586837:exon2:c.T122G:p.I41S;ENSG00000154832:ENST00000285106:exon2:c.T122G:p.I41S;	0.381788576578249	0.448
18	47813110	A	G	18	50286740	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.T122C:p.I41T;CXXC1:NM_014593:exon2:c.T122C:p.I41T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.T122C:p.I41T;ENSG00000154832:ENST00000412036:exon2:c.T122C:p.I41T;ENSG00000154832:ENST00000589548:exon2:c.T122C:p.I41T;ENSG00000154832:ENST00000586837:exon2:c.T122C:p.I41T;ENSG00000154832:ENST00000285106:exon2:c.T122C:p.I41T;	0.69264861212421	0.62
18	47813110	A	T	18	50286740	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.T122A:p.I41N;CXXC1:NM_014593:exon2:c.T122A:p.I41N;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.T122A:p.I41N;ENSG00000154832:ENST00000412036:exon2:c.T122A:p.I41N;ENSG00000154832:ENST00000589548:exon2:c.T122A:p.I41N;ENSG00000154832:ENST00000586837:exon2:c.T122A:p.I41N;ENSG00000154832:ENST00000285106:exon2:c.T122A:p.I41N;	0.352303786732081	0.526
18	47813111	T	A	18	50286741	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.A121T:p.I41F;CXXC1:NM_014593:exon2:c.A121T:p.I41F;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.A121T:p.I41F;ENSG00000154832:ENST00000412036:exon2:c.A121T:p.I41F;ENSG00000154832:ENST00000589548:exon2:c.A121T:p.I41F;ENSG00000154832:ENST00000586837:exon2:c.A121T:p.I41F;ENSG00000154832:ENST00000285106:exon2:c.A121T:p.I41F;	0.99985344148442	0.984
18	47813111	T	C	18	50286741	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.A121G:p.I41V;CXXC1:NM_014593:exon2:c.A121G:p.I41V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.A121G:p.I41V;ENSG00000154832:ENST00000412036:exon2:c.A121G:p.I41V;ENSG00000154832:ENST00000589548:exon2:c.A121G:p.I41V;ENSG00000154832:ENST00000586837:exon2:c.A121G:p.I41V;ENSG00000154832:ENST00000285106:exon2:c.A121G:p.I41V;	0.999856029444604	0.988
18	47813111	T	G	18	50286741	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.A121C:p.I41L;CXXC1:NM_014593:exon2:c.A121C:p.I41L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.A121C:p.I41L;ENSG00000154832:ENST00000412036:exon2:c.A121C:p.I41L;ENSG00000154832:ENST00000589548:exon2:c.A121C:p.I41L;ENSG00000154832:ENST00000586837:exon2:c.A121C:p.I41L;ENSG00000154832:ENST00000285106:exon2:c.A121C:p.I41L;	0.999724880639121	0.948
18	47813112	C	A	18	50286742	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.G120T:p.M40I;CXXC1:NM_014593:exon2:c.G120T:p.M40I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.G120T:p.M40I;ENSG00000154832:ENST00000412036:exon2:c.G120T:p.M40I;ENSG00000154832:ENST00000589548:exon2:c.G120T:p.M40I;ENSG00000154832:ENST00000586837:exon2:c.G120T:p.M40I;ENSG00000154832:ENST00000285106:exon2:c.G120T:p.M40I;	0.777842484468305	0.412
18	47813112	C	G	18	50286742	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.G120C:p.M40I;CXXC1:NM_014593:exon2:c.G120C:p.M40I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.G120C:p.M40I;ENSG00000154832:ENST00000412036:exon2:c.G120C:p.M40I;ENSG00000154832:ENST00000589548:exon2:c.G120C:p.M40I;ENSG00000154832:ENST00000586837:exon2:c.G120C:p.M40I;ENSG00000154832:ENST00000285106:exon2:c.G120C:p.M40I;	0.288984015941837	0.548
18	47813112	C	T	18	50286742	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.G120A:p.M40I;CXXC1:NM_014593:exon2:c.G120A:p.M40I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.G120A:p.M40I;ENSG00000154832:ENST00000412036:exon2:c.G120A:p.M40I;ENSG00000154832:ENST00000589548:exon2:c.G120A:p.M40I;ENSG00000154832:ENST00000586837:exon2:c.G120A:p.M40I;ENSG00000154832:ENST00000285106:exon2:c.G120A:p.M40I;	0.265715444160132	0.574
18	47813227	T	A	18	50286857	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.A5T:p.E2V;CXXC1:NM_014593:exon2:c.A5T:p.E2V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.A5T:p.E2V;ENSG00000154832:ENST00000412036:exon2:c.A5T:p.E2V;ENSG00000154832:ENST00000589548:exon2:c.A5T:p.E2V;ENSG00000154832:ENST00000586837:exon2:c.A5T:p.E2V;ENSG00000154832:ENST00000285106:exon2:c.A5T:p.E2V;	0.0602145886819808	0.372
18	47813227	T	C	18	50286857	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.A5G:p.E2G;CXXC1:NM_014593:exon2:c.A5G:p.E2G;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.A5G:p.E2G;ENSG00000154832:ENST00000412036:exon2:c.A5G:p.E2G;ENSG00000154832:ENST00000589548:exon2:c.A5G:p.E2G;ENSG00000154832:ENST00000586837:exon2:c.A5G:p.E2G;ENSG00000154832:ENST00000285106:exon2:c.A5G:p.E2G;	0.0474700923864417	0.238
18	47813227	T	G	18	50286857	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.A5C:p.E2A;CXXC1:NM_014593:exon2:c.A5C:p.E2A;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.A5C:p.E2A;ENSG00000154832:ENST00000412036:exon2:c.A5C:p.E2A;ENSG00000154832:ENST00000589548:exon2:c.A5C:p.E2A;ENSG00000154832:ENST00000586837:exon2:c.A5C:p.E2A;ENSG00000154832:ENST00000285106:exon2:c.A5C:p.E2A;	0.0166091868125281	0.292
18	47813228	C	A	18	50286858	y	y	exonic	CXXC1	stopgain SNV	CXXC1:NM_001101654:exon2:c.G4T:p.E2X;CXXC1:NM_014593:exon2:c.G4T:p.E2X;	exonic	ENSG00000154832	stopgain SNV	ENSG00000154832:ENST00000589940:exon2:c.G4T:p.E2X;ENSG00000154832:ENST00000412036:exon2:c.G4T:p.E2X;ENSG00000154832:ENST00000589548:exon2:c.G4T:p.E2X;ENSG00000154832:ENST00000586837:exon2:c.G4T:p.E2X;ENSG00000154832:ENST00000285106:exon2:c.G4T:p.E2X;	0.999822761137228	0.984
18	47813228	C	G	18	50286858	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.G4C:p.E2Q;CXXC1:NM_014593:exon2:c.G4C:p.E2Q;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.G4C:p.E2Q;ENSG00000154832:ENST00000412036:exon2:c.G4C:p.E2Q;ENSG00000154832:ENST00000589548:exon2:c.G4C:p.E2Q;ENSG00000154832:ENST00000586837:exon2:c.G4C:p.E2Q;ENSG00000154832:ENST00000285106:exon2:c.G4C:p.E2Q;	0.993441990260395	0.95
18	47813228	C	T	18	50286858	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon2:c.G4A:p.E2K;CXXC1:NM_014593:exon2:c.G4A:p.E2K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000589940:exon2:c.G4A:p.E2K;ENSG00000154832:ENST00000412036:exon2:c.G4A:p.E2K;ENSG00000154832:ENST00000589548:exon2:c.G4A:p.E2K;ENSG00000154832:ENST00000586837:exon2:c.G4A:p.E2K;ENSG00000154832:ENST00000285106:exon2:c.G4A:p.E2K;	0.992026941092715	0.86
18	47813229	C	A	18	50286859	y	y	splicing	CXXC1(NM_014593:exon3:c.4-1G>T;NM_001101654:exon3:c.4-1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.4-1G>T;ENST00000412036:exon3:c.4-1G>T;ENST00000589940:exon3:c.4-1G>T;ENST00000589548:exon3:c.4-1G>T;ENST00000586837:exon3:c.4-1G>T)	.	.	0.999976071835041	0.952
18	47813229	C	G	18	50286859	y	y	splicing	CXXC1(NM_014593:exon3:c.4-1G>C;NM_001101654:exon3:c.4-1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.4-1G>C;ENST00000412036:exon3:c.4-1G>C;ENST00000589940:exon3:c.4-1G>C;ENST00000589548:exon3:c.4-1G>C;ENST00000586837:exon3:c.4-1G>C)	.	.	0.999976292457862	0.958
18	47813229	C	T	18	50286859	y	y	splicing	CXXC1(NM_014593:exon3:c.4-1G>A;NM_001101654:exon3:c.4-1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.4-1G>A;ENST00000412036:exon3:c.4-1G>A;ENST00000589940:exon3:c.4-1G>A;ENST00000589548:exon3:c.4-1G>A;ENST00000586837:exon3:c.4-1G>A)	.	.	0.999976071835041	0.952
18	47813230	T	A	18	50286860	y	y	splicing	CXXC1(NM_014593:exon3:c.4-2A>T;NM_001101654:exon3:c.4-2A>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.4-2A>T;ENST00000412036:exon3:c.4-2A>T;ENST00000589940:exon3:c.4-2A>T;ENST00000589548:exon3:c.4-2A>T;ENST00000586837:exon3:c.4-2A>T)	.	.	0.999980046394385	0.948
18	47813230	T	C	18	50286860	y	y	splicing	CXXC1(NM_014593:exon3:c.4-2A>G;NM_001101654:exon3:c.4-2A>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.4-2A>G;ENST00000412036:exon3:c.4-2A>G;ENST00000589940:exon3:c.4-2A>G;ENST00000589548:exon3:c.4-2A>G;ENST00000586837:exon3:c.4-2A>G)	.	.	0.99998023037164	0.954
18	47813230	T	G	18	50286860	y	y	splicing	CXXC1(NM_014593:exon3:c.4-2A>C;NM_001101654:exon3:c.4-2A>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon3:c.4-2A>C;ENST00000412036:exon3:c.4-2A>C;ENST00000589940:exon3:c.4-2A>C;ENST00000589548:exon3:c.4-2A>C;ENST00000586837:exon3:c.4-2A>C)	.	.	0.99998023037164	0.956
18	47813231	G	A	18	50286861	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0643238229696242	0.266
18	47813231	G	C	18	50286861	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999866956692543	0.72
18	47813231	G	T	18	50286861	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999061470735329	0.858
18	47813232	C	A	18	50286862	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.20673295829845E-5	0.008
18	47813232	C	G	18	50286862	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.7245427165626E-5	0.056
18	47813232	C	T	18	50286862	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	6.5641177231066E-6	0.016
18	47813233	A	C	18	50286863	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.461858715719507	0.478
18	47813233	A	G	18	50286863	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.57407538282605E-4	0.072
18	47813233	A	T	18	50286863	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.996562188288014	0.932
18	47813234	G	A	18	50286864	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.31191455395457E-5	0.004
18	47813234	G	C	18	50286864	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0734753767883535	0.426
18	47813234	G	T	18	50286864	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.076818523096143	0.424
18	47813235	G	A	18	50286865	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.24856384425335E-4	0.046
18	47813235	G	C	18	50286865	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0597594511242282	0.244
18	47813235	G	T	18	50286865	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0963677290979896	0.268
18	47813236	A	C	18	50286866	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.432581551137033	0.6
18	47813236	A	G	18	50286866	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.11315927955832E-4	0.092
18	47813236	A	T	18	50286866	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.932698329845542	0.654
18	47813237	C	A	18	50286867	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.88863356375749E-5	0.02
18	47813237	C	G	18	50286867	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.78406055668568E-5	0.002
18	47813237	C	T	18	50286867	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.55616963606402E-4	0.092
18	47813238	A	C	18	50286868	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.919133996493027	0.584
18	47813238	A	G	18	50286868	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00659015539333723	0.06
18	47813238	A	T	18	50286868	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999960078691435	0.968
18	47813239	C	A	18	50286869	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00139537409827767	0.038
18	47813239	C	G	18	50286869	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.37922902972065E-4	0.012
18	47813239	C	T	18	50286869	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0064385564423216	0.096
18	47813240	C	A	18	50286870	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	5.21775273523774E-4	0.054
18	47813240	C	G	18	50286870	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.48700189130502E-4	0.022
18	47813240	C	T	18	50286870	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.999192626097673	0.988
18	47813785	T	A	18	50287415	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.5480235718294E-5	0.012
18	47813785	T	C	18	50287415	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.37184549953077E-4	0.012
18	47813785	T	G	18	50287415	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.37184549953077E-4	0.014
18	47813786	G	A	18	50287416	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.17119222840784E-5	0.01
18	47813786	G	C	18	50287416	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.17119222840784E-5	0.01
18	47813786	G	T	18	50287416	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.17119222840784E-5	0.01
18	47813787	G	A	18	50287417	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.50312366030491E-5	0.0
18	47813787	G	C	18	50287417	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.50312366030491E-5	0.0
18	47813787	G	T	18	50287417	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	3.50312366030491E-5	0.0
18	47813788	C	A	18	50287418	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.62500938860321E-5	0.0
18	47813788	C	G	18	50287418	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.62500938860321E-5	0.0
18	47813788	C	T	18	50287418	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.19523722086209E-5	0.0
18	47813789	T	A	18	50287419	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.01315188657279E-5	0.0
18	47813789	T	C	18	50287419	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.01315188657279E-5	0.0
18	47813789	T	G	18	50287419	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	7.01315188657279E-5	0.0
18	47813790	C	A	18	50287420	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00161169218389003	0.01
18	47813790	C	G	18	50287420	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00144100098625824	0.01
18	47813790	C	T	18	50287420	n	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00161169218389003	0.01
18	47813791	A	C	18	50287421	n	y	intronic	CXXC1	.	.	splicing	ENSG00000154832(ENST00000586837:exon2:c.3+2T>G)	.	.	6.12869275217467E-5	0.004
18	47813791	A	G	18	50287421	n	y	intronic	CXXC1	.	.	splicing	ENSG00000154832(ENST00000586837:exon2:c.3+2T>C)	.	.	6.12869275217467E-5	0.004
18	47813791	A	T	18	50287421	n	y	intronic	CXXC1	.	.	splicing	ENSG00000154832(ENST00000586837:exon2:c.3+2T>A)	.	.	6.12869275217467E-5	0.004
18	47813792	C	A	18	50287422	n	y	intronic	CXXC1	.	.	splicing	ENSG00000154832(ENST00000586837:exon2:c.3+1G>T)	.	.	6.35428655471156E-5	0.008
18	47813792	C	G	18	50287422	n	y	intronic	CXXC1	.	.	splicing	ENSG00000154832(ENST00000586837:exon2:c.3+1G>C)	.	.	6.35428655471156E-5	0.006
18	47813792	C	T	18	50287422	n	y	intronic	CXXC1	.	.	splicing	ENSG00000154832(ENST00000586837:exon2:c.3+1G>A)	.	.	6.35428655471156E-5	0.006
18	47813793	C	A	18	50287423	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.G3T:p.M1I;	6.44140629267553E-5	0.018
18	47813793	C	G	18	50287423	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.G3C:p.M1I;	6.44140629267553E-5	0.018
18	47813793	C	T	18	50287423	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.G3A:p.M1I;	9.25791559990962E-5	0.018
18	47813794	A	C	18	50287424	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.T2G:p.M1R;	2.9188670368541E-4	0.008
18	47813794	A	G	18	50287424	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.T2C:p.M1T;	2.9188670368541E-4	0.008
18	47813794	A	T	18	50287424	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.T2A:p.M1K;	3.39623879363549E-4	0.016
18	47813795	T	A	18	50287425	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.A1T:p.M1L;	7.01315188657279E-5	0.0
18	47813795	T	C	18	50287425	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.A1G:p.M1V;	7.01315188657279E-5	0.0
18	47813795	T	G	18	50287425	n	y	intronic	CXXC1	.	.	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000586837:exon1:c.A1C:p.M1L;	7.01315188657279E-5	0.0
18	47813949	C	A	18	50287579	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.00081478410786E-4	0.006
18	47813949	C	G	18	50287579	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.64665948737279E-4	0.012
18	47813949	C	T	18	50287579	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	2.02244137088131E-4	0.008
18	47813950	T	A	18	50287580	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	1.37270895031116E-4	0.0
18	47813950	T	C	18	50287580	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	9.55106601481632E-5	0.0
18	47813950	T	G	18	50287580	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	4.79310572903282E-5	0.0
18	47813951	A	C	18	50287581	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.468643625412617	0.37
18	47813951	A	G	18	50287581	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.296517651667023	0.462
18	47813951	A	T	18	50287581	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.315134824009883	0.466
18	47813952	C	A	18	50287582	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.998893880711853	0.906
18	47813952	C	G	18	50287582	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99218651490846	0.85
18	47813952	C	T	18	50287582	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.99946746798813	0.908
18	47813953	T	A	18	50287583	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.701555925399495	0.358
18	47813953	T	C	18	50287583	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.507137515368338	0.34
18	47813953	T	G	18	50287583	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.0984048499675007	0.216
18	47813954	T	A	18	50287584	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.713831076385735	0.504
18	47813954	T	C	18	50287584	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.00208183641741812	0.042
18	47813954	T	G	18	50287584	y	y	intronic	CXXC1	.	.	intronic	ENSG00000154832	.	.	0.980828889895048	0.664
18	47813955	A	C	18	50287585	y	y	splicing	CXXC1(NM_014593:exon2:c.3+2T>G;NM_001101654:exon2:c.3+2T>G)	.	.	splicing	ENSG00000154832(ENST00000285106:exon2:c.3+2T>G;ENST00000412036:exon2:c.3+2T>G;ENST00000589940:exon2:c.3+2T>G;ENST00000591474:exon2:c.3+2T>G;ENST00000589548:exon2:c.3+2T>G)	.	.	0.999986292618093	0.926
18	47813955	A	G	18	50287585	y	y	splicing	CXXC1(NM_014593:exon2:c.3+2T>C;NM_001101654:exon2:c.3+2T>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon2:c.3+2T>C;ENST00000412036:exon2:c.3+2T>C;ENST00000589940:exon2:c.3+2T>C;ENST00000591474:exon2:c.3+2T>C;ENST00000589548:exon2:c.3+2T>C)	.	.	0.987568535193125	0.608
18	47813955	A	T	18	50287585	y	y	splicing	CXXC1(NM_014593:exon2:c.3+2T>A;NM_001101654:exon2:c.3+2T>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon2:c.3+2T>A;ENST00000412036:exon2:c.3+2T>A;ENST00000589940:exon2:c.3+2T>A;ENST00000591474:exon2:c.3+2T>A;ENST00000589548:exon2:c.3+2T>A)	.	.	0.999990155693597	0.926
18	47813956	C	A	18	50287586	y	y	splicing	CXXC1(NM_014593:exon2:c.3+1G>T;NM_001101654:exon2:c.3+1G>T)	.	.	splicing	ENSG00000154832(ENST00000285106:exon2:c.3+1G>T;ENST00000412036:exon2:c.3+1G>T;ENST00000589940:exon2:c.3+1G>T;ENST00000591474:exon2:c.3+1G>T;ENST00000589548:exon2:c.3+1G>T)	.	.	0.999982087414462	0.936
18	47813956	C	G	18	50287586	y	y	splicing	CXXC1(NM_014593:exon2:c.3+1G>C;NM_001101654:exon2:c.3+1G>C)	.	.	splicing	ENSG00000154832(ENST00000285106:exon2:c.3+1G>C;ENST00000412036:exon2:c.3+1G>C;ENST00000589940:exon2:c.3+1G>C;ENST00000591474:exon2:c.3+1G>C;ENST00000589548:exon2:c.3+1G>C)	.	.	0.999979673789492	0.932
18	47813956	C	T	18	50287586	y	y	splicing	CXXC1(NM_014593:exon2:c.3+1G>A;NM_001101654:exon2:c.3+1G>A)	.	.	splicing	ENSG00000154832(ENST00000285106:exon2:c.3+1G>A;ENST00000412036:exon2:c.3+1G>A;ENST00000589940:exon2:c.3+1G>A;ENST00000591474:exon2:c.3+1G>A;ENST00000589548:exon2:c.3+1G>A)	.	.	0.999982087414462	0.936
18	47813957	C	A	18	50287587	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.G3T:p.M1I;CXXC1:NM_014593:exon1:c.G3T:p.M1I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.G3T:p.M1I;ENSG00000154832:ENST00000589940:exon1:c.G3T:p.M1I;ENSG00000154832:ENST00000412036:exon1:c.G3T:p.M1I;ENSG00000154832:ENST00000589548:exon1:c.G3T:p.M1I;ENSG00000154832:ENST00000285106:exon1:c.G3T:p.M1I;	0.999231031425827	0.984
18	47813957	C	G	18	50287587	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.G3C:p.M1I;CXXC1:NM_014593:exon1:c.G3C:p.M1I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.G3C:p.M1I;ENSG00000154832:ENST00000589940:exon1:c.G3C:p.M1I;ENSG00000154832:ENST00000412036:exon1:c.G3C:p.M1I;ENSG00000154832:ENST00000589548:exon1:c.G3C:p.M1I;ENSG00000154832:ENST00000285106:exon1:c.G3C:p.M1I;	0.999456969934536	0.952
18	47813957	C	T	18	50287587	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.G3A:p.M1I;CXXC1:NM_014593:exon1:c.G3A:p.M1I;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.G3A:p.M1I;ENSG00000154832:ENST00000589940:exon1:c.G3A:p.M1I;ENSG00000154832:ENST00000412036:exon1:c.G3A:p.M1I;ENSG00000154832:ENST00000589548:exon1:c.G3A:p.M1I;ENSG00000154832:ENST00000285106:exon1:c.G3A:p.M1I;	0.998192659913241	0.964
18	47813958	A	C	18	50287588	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.T2G:p.M1R;CXXC1:NM_014593:exon1:c.T2G:p.M1R;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.T2G:p.M1R;ENSG00000154832:ENST00000589940:exon1:c.T2G:p.M1R;ENSG00000154832:ENST00000412036:exon1:c.T2G:p.M1R;ENSG00000154832:ENST00000589548:exon1:c.T2G:p.M1R;ENSG00000154832:ENST00000285106:exon1:c.T2G:p.M1R;	0.84185135232963	0.652
18	47813958	A	G	18	50287588	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.T2C:p.M1T;CXXC1:NM_014593:exon1:c.T2C:p.M1T;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.T2C:p.M1T;ENSG00000154832:ENST00000589940:exon1:c.T2C:p.M1T;ENSG00000154832:ENST00000412036:exon1:c.T2C:p.M1T;ENSG00000154832:ENST00000589548:exon1:c.T2C:p.M1T;ENSG00000154832:ENST00000285106:exon1:c.T2C:p.M1T;	0.634168563259405	0.536
18	47813958	A	T	18	50287588	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.T2A:p.M1K;CXXC1:NM_014593:exon1:c.T2A:p.M1K;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.T2A:p.M1K;ENSG00000154832:ENST00000589940:exon1:c.T2A:p.M1K;ENSG00000154832:ENST00000412036:exon1:c.T2A:p.M1K;ENSG00000154832:ENST00000589548:exon1:c.T2A:p.M1K;ENSG00000154832:ENST00000285106:exon1:c.T2A:p.M1K;	0.355220784205335	0.584
18	47813959	T	A	18	50287589	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.A1T:p.M1L;CXXC1:NM_014593:exon1:c.A1T:p.M1L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.A1T:p.M1L;ENSG00000154832:ENST00000589940:exon1:c.A1T:p.M1L;ENSG00000154832:ENST00000412036:exon1:c.A1T:p.M1L;ENSG00000154832:ENST00000589548:exon1:c.A1T:p.M1L;ENSG00000154832:ENST00000285106:exon1:c.A1T:p.M1L;	0.784589868837742	0.408
18	47813959	T	C	18	50287589	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.A1G:p.M1V;CXXC1:NM_014593:exon1:c.A1G:p.M1V;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.A1G:p.M1V;ENSG00000154832:ENST00000589940:exon1:c.A1G:p.M1V;ENSG00000154832:ENST00000412036:exon1:c.A1G:p.M1V;ENSG00000154832:ENST00000589548:exon1:c.A1G:p.M1V;ENSG00000154832:ENST00000285106:exon1:c.A1G:p.M1V;	0.1484333058487	0.25
18	47813959	T	G	18	50287589	y	y	exonic	CXXC1	nonsynonymous SNV	CXXC1:NM_001101654:exon1:c.A1C:p.M1L;CXXC1:NM_014593:exon1:c.A1C:p.M1L;	exonic	ENSG00000154832	nonsynonymous SNV	ENSG00000154832:ENST00000591474:exon1:c.A1C:p.M1L;ENSG00000154832:ENST00000589940:exon1:c.A1C:p.M1L;ENSG00000154832:ENST00000412036:exon1:c.A1C:p.M1L;ENSG00000154832:ENST00000589548:exon1:c.A1C:p.M1L;ENSG00000154832:ENST00000285106:exon1:c.A1C:p.M1L;	0.393736986208272	0.446
18	47901562	G	A	18	50375192	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	1.17614661234526E-4	0.032
18	47901562	G	C	18	50375192	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	1.17614661234526E-4	0.03
18	47901562	G	T	18	50375192	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.00499143317509172	0.076
18	47901563	A	C	18	50375193	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999388310337423	0.918
18	47901563	A	G	18	50375193	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999479932107797	0.922
18	47901563	A	T	18	50375193	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999563537509914	0.956
18	47901564	G	A	18	50375194	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999986912008686	0.976
18	47901564	G	C	18	50375194	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999988768609589	0.99
18	47901564	G	T	18	50375194	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999941148443777	0.992
18	47901565	G	A	18	50375195	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999913856420953	0.9
18	47901565	G	C	18	50375195	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999948569839955	0.904
18	47901565	G	T	18	50375195	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999948569839955	0.906
18	47901566	T	A	18	50375196	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999967673024146	0.934
18	47901566	T	C	18	50375196	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.99720970073937	0.894
18	47901566	T	G	18	50375196	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999967673024146	0.936
18	47901567	T	A	18	50375197	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.00132088249154659	0.142
18	47901567	T	C	18	50375197	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	6.70486555792943E-4	0.142
18	47901567	T	G	18	50375197	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.00158127292644214	0.258
18	47901568	G	A	18	50375198	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.00139245837379657	0.044
18	47901568	G	C	18	50375198	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.00151609102526163	0.25
18	47901568	G	T	18	50375198	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	5.46528549422492E-4	0.02
18	47901569	G	A	18	50375199	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999948390659774	0.966
18	47901569	G	C	18	50375199	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999927659807791	0.962
18	47901569	G	T	18	50375199	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.999925553130715	0.95
18	47901570	A	C	18	50375200	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	3.8883324487201E-4	0.11
18	47901570	A	G	18	50375200	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	3.63640331842168E-4	0.048
18	47901570	A	T	18	50375200	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	7.74869822547991E-5	0.03
18	47901571	G	A	18	50375201	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.00487771052421736	0.004
18	47901571	G	C	18	50375201	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.00372573530894918	0.004
18	47901571	G	T	18	50375201	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	0.00487771052421736	0.0
18	47901572	T	A	18	50375202	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	1.34593608700734E-4	0.026
18	47901572	T	C	18	50375202	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	3.08564143033363E-4	0.006
18	47901572	T	G	18	50375202	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	1.87847150570486E-4	0.044
18	47901607	G	A	18	50375237	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	6.33046218034648E-5	0.014
18	47901607	G	C	18	50375237	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	8.40597272520937E-5	0.012
18	47901607	G	T	18	50375237	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	1.17847040172285E-4	0.014
18	47901608	A	C	18	50375238	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	2.48380015150858E-4	0.002
18	47901608	A	G	18	50375238	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	2.48380015150858E-4	0.004
18	47901608	A	T	18	50375238	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	1.69869282893757E-4	0.0
18	47901609	G	A	18	50375239	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	2.33950268484782E-4	0.0
18	47901609	G	C	18	50375239	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	1.73401366462724E-4	0.002
18	47901609	G	T	18	50375239	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	1.73401366462724E-4	0.0
18	47901610	G	A	18	50375240	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.00712145416375606	0.024
18	47901610	G	C	18	50375240	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.00712145416375606	0.018
18	47901610	G	T	18	50375240	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.00712145416375606	0.018
18	47901611	T	A	18	50375241	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	6.09332237519757E-5	0.04
18	47901611	T	C	18	50375241	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	6.09332237519757E-5	0.04
18	47901611	T	G	18	50375241	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	6.09332237519757E-5	0.04
18	47901612	A	C	18	50375242	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.37367921756301E-5	0.002
18	47901612	A	G	18	50375242	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.37367921756301E-5	0.002
18	47901612	A	T	18	50375242	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.37367921756301E-5	0.008
18	47901613	G	A	18	50375243	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.77981388804492E-5	0.006
18	47901613	G	C	18	50375243	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.77981388804492E-5	0.022
18	47901613	G	T	18	50375243	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.77981388804492E-5	0.006
18	47901614	C	A	18	50375244	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.21133756078422E-5	0.002
18	47901614	C	G	18	50375244	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.21133756078422E-5	0.002
18	47901614	C	T	18	50375244	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.29649089108586E-5	0.002
18	47901615	T	A	18	50375245	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.73760298884343E-4	0.0
18	47901615	T	C	18	50375245	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.28787216154889E-4	0.002
18	47901615	T	G	18	50375245	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.28787216154889E-4	0.002
18	47901616	G	A	18	50375246	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	8.30945796578933E-5	0.0
18	47901616	G	C	18	50375246	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	8.30945796578933E-5	0.0
18	47901616	G	T	18	50375246	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	8.30945796578933E-5	0.0
18	47901617	C	A	18	50375247	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.40053381145528E-4	0.002
18	47901617	C	G	18	50375247	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	8.55472960422104E-5	0.0
18	47901617	C	T	18	50375247	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.40053381145528E-4	0.0
18	47902178	T	A	18	50375808	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.34368908380107E-4	0.104
18	47902178	T	C	18	50375808	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.00916711114947E-5	0.008
18	47902178	T	G	18	50375808	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.37947001745107E-4	0.096
18	47902179	T	A	18	50375809	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00152522071899398	0.19
18	47902179	T	C	18	50375809	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	6.48601280970834E-4	0.018
18	47902179	T	G	18	50375809	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.87170041064972E-4	0.194
18	47902180	T	A	18	50375810	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00107779742244319	0.05
18	47902180	T	C	18	50375810	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.77132543605836E-5	0.004
18	47902180	T	G	18	50375810	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.36990502771862E-4	0.038
18	47902181	T	A	18	50375811	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00205956090764183	0.068
18	47902181	T	C	18	50375811	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.6597155869369E-4	0.004
18	47902181	T	G	18	50375811	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00205956090764183	0.07
18	47902182	T	A	18	50375812	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00389043259740103	0.082
18	47902182	T	C	18	50375812	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.23716766347331E-4	0.01
18	47902182	T	G	18	50375812	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	9.69252569512714E-4	0.058
18	47902183	T	A	18	50375813	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.05704324205011E-4	0.038
18	47902183	T	C	18	50375813	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.0142912590596E-5	0.0
18	47902183	T	G	18	50375813	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.41053728422686E-4	0.012
18	47902184	C	A	18	50375814	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.40443520480557E-4	0.052
18	47902184	C	G	18	50375814	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00164049824148677	0.05
18	47902184	C	T	18	50375814	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.47432952588265E-5	0.0
18	47902185	T	A	18	50375815	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0012410835224523	0.052
18	47902185	T	C	18	50375815	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	6.08885689509047E-5	0.002
18	47902185	T	G	18	50375815	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00175731728745951	0.11
18	47902186	T	A	18	50375816	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.40721326498567E-5	0.006
18	47902186	T	C	18	50375816	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.95339931064573E-5	0.006
18	47902186	T	G	18	50375816	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.88865029116113E-5	0.004
18	47902187	C	A	18	50375817	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.919018384870459	0.382
18	47902187	C	G	18	50375817	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999756775001278	0.908
18	47902187	C	T	18	50375817	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00110207386948618	0.04
18	47902188	A	C	18	50375818	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999962958601995	0.804
18	47902188	A	G	18	50375818	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999962958601995	0.804
18	47902188	A	T	18	50375818	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999969255906173	0.848
18	47902189	G	A	18	50375819	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999916197664134	0.774
18	47902189	G	C	18	50375819	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999890706350022	0.776
18	47902189	G	T	18	50375819	y	y	splicing	SKA1	.	.	splicing	ENSG00000154839	.	.	0.999890706350022	0.776
18	47902190	A	C	18	50375820	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	3.25059527389629E-4	0.01
18	47902190	A	G	18	50375820	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	7.30325955843681E-5	0.006
18	47902190	A	T	18	50375820	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	2.04422749850121E-4	0.02
18	47902191	G	A	18	50375821	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	7.79932718187848E-5	0.0
18	47902191	G	C	18	50375821	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	7.79932718187848E-5	0.0
18	47902191	G	T	18	50375821	y	y	UTR5	SKA1	.	.	UTR5	ENSG00000154839	.	.	8.39234628343389E-5	0.0
18	47902286	G	A	18	50375916	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon2:c.G86A:p.C29Y;SKA1:NM_001039535:exon2:c.G86A:p.C29Y;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon2:c.G86A:p.C29Y;ENSG00000154839:ENST00000398452:exon2:c.G86A:p.C29Y;ENSG00000154839:ENST00000417656:exon2:c.G86A:p.C29Y;	2.75650415160547E-4	0.002
18	47902286	G	C	18	50375916	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon2:c.G86C:p.C29S;SKA1:NM_001039535:exon2:c.G86C:p.C29S;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon2:c.G86C:p.C29S;ENSG00000154839:ENST00000398452:exon2:c.G86C:p.C29S;ENSG00000154839:ENST00000417656:exon2:c.G86C:p.C29S;	4.07863177748539E-4	0.0
18	47902286	G	T	18	50375916	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon2:c.G86T:p.C29F;SKA1:NM_001039535:exon2:c.G86T:p.C29F;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon2:c.G86T:p.C29F;ENSG00000154839:ENST00000398452:exon2:c.G86T:p.C29F;ENSG00000154839:ENST00000417656:exon2:c.G86T:p.C29F;	7.29636996731546E-4	0.084
18	47902287	T	A	18	50375917	y	y	exonic	SKA1	stopgain SNV	SKA1:NM_145060:exon2:c.T87A:p.C29X;SKA1:NM_001039535:exon2:c.T87A:p.C29X;	exonic	ENSG00000154839	stopgain SNV	ENSG00000154839:ENST00000285116:exon2:c.T87A:p.C29X;ENSG00000154839:ENST00000398452:exon2:c.T87A:p.C29X;ENSG00000154839:ENST00000417656:exon2:c.T87A:p.C29X;	5.16083434169984E-5	0.23
18	47902287	T	C	18	50375917	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon2:c.T87C:p.C29C;SKA1:NM_001039535:exon2:c.T87C:p.C29C;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon2:c.T87C:p.C29C;ENSG00000154839:ENST00000398452:exon2:c.T87C:p.C29C;ENSG00000154839:ENST00000417656:exon2:c.T87C:p.C29C;	1.08258660143758E-5	0.004
18	47902287	T	G	18	50375917	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon2:c.T87G:p.C29W;SKA1:NM_001039535:exon2:c.T87G:p.C29W;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon2:c.T87G:p.C29W;ENSG00000154839:ENST00000398452:exon2:c.T87G:p.C29W;ENSG00000154839:ENST00000417656:exon2:c.T87G:p.C29W;	1.45869355935371E-4	0.104
18	47902288	G	A	18	50375918	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon2:c.G88A:p.G30S;SKA1:NM_001039535:exon2:c.G88A:p.G30S;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon2:c.G88A:p.G30S;ENSG00000154839:ENST00000398452:exon2:c.G88A:p.G30S;ENSG00000154839:ENST00000417656:exon2:c.G88A:p.G30S;	0.999973849187146	0.978
18	47902288	G	C	18	50375918	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon2:c.G88C:p.G30R;SKA1:NM_001039535:exon2:c.G88C:p.G30R;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon2:c.G88C:p.G30R;ENSG00000154839:ENST00000398452:exon2:c.G88C:p.G30R;ENSG00000154839:ENST00000417656:exon2:c.G88C:p.G30R;	0.999941297934026	0.968
18	47902288	G	T	18	50375918	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon2:c.G88T:p.G30C;SKA1:NM_001039535:exon2:c.G88T:p.G30C;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon2:c.G88T:p.G30C;ENSG00000154839:ENST00000398452:exon2:c.G88T:p.G30C;ENSG00000154839:ENST00000417656:exon2:c.G88T:p.G30C;	0.999771567922717	0.956
18	47902289	G	A	18	50375919	y	y	splicing	SKA1(NM_145060:exon2:c.88+1G>A;NM_001039535:exon2:c.88+1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon2:c.88+1G>A;ENST00000398452:exon2:c.88+1G>A;ENST00000417656:exon2:c.88+1G>A)	.	.	0.999976475802857	0.908
18	47902289	G	C	18	50375919	y	y	splicing	SKA1(NM_145060:exon2:c.88+1G>C;NM_001039535:exon2:c.88+1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon2:c.88+1G>C;ENST00000398452:exon2:c.88+1G>C;ENST00000417656:exon2:c.88+1G>C)	.	.	0.999977162774916	0.866
18	47902289	G	T	18	50375919	y	y	splicing	SKA1(NM_145060:exon2:c.88+1G>T;NM_001039535:exon2:c.88+1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon2:c.88+1G>T;ENST00000398452:exon2:c.88+1G>T;ENST00000417656:exon2:c.88+1G>T)	.	.	0.999976475802857	0.904
18	47902290	T	A	18	50375920	y	y	splicing	SKA1(NM_145060:exon2:c.88+2T>A;NM_001039535:exon2:c.88+2T>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon2:c.88+2T>A;ENST00000398452:exon2:c.88+2T>A;ENST00000417656:exon2:c.88+2T>A)	.	.	0.999971317418422	0.89
18	47902290	T	C	18	50375920	y	y	splicing	SKA1(NM_145060:exon2:c.88+2T>C;NM_001039535:exon2:c.88+2T>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon2:c.88+2T>C;ENST00000398452:exon2:c.88+2T>C;ENST00000417656:exon2:c.88+2T>C)	.	.	0.96870016034936	0.606
18	47902290	T	G	18	50375920	y	y	splicing	SKA1(NM_145060:exon2:c.88+2T>G;NM_001039535:exon2:c.88+2T>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon2:c.88+2T>G;ENST00000398452:exon2:c.88+2T>G;ENST00000417656:exon2:c.88+2T>G)	.	.	0.999972155025474	0.874
18	47902291	A	C	18	50375921	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.986428274012787	0.698
18	47902291	A	G	18	50375921	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00210469509570034	0.108
18	47902291	A	T	18	50375921	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.957935545691521	0.66
18	47902292	A	C	18	50375922	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.127283360262493	0.39
18	47902292	A	G	18	50375922	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.298745849588354	0.484
18	47902292	A	T	18	50375922	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.214408821524208	0.488
18	47902293	G	A	18	50375923	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999242985889566	0.828
18	47902293	G	C	18	50375923	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.998970377920398	0.764
18	47902293	G	T	18	50375923	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.997863472636161	0.754
18	47902294	T	A	18	50375924	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	9.44886421529485E-4	0.042
18	47902294	T	C	18	50375924	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00136504847860089	0.066
18	47902294	T	G	18	50375924	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	8.94999677710698E-4	0.03
18	47902295	A	C	18	50375925	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.01101805575037E-5	0.002
18	47902295	A	G	18	50375925	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.12877727083204E-5	0.002
18	47902295	A	T	18	50375925	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.66057879071805E-5	0.002
18	47902296	A	C	18	50375926	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.53397514882839E-5	0.0
18	47902296	A	G	18	50375926	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	6.34088995096756E-5	0.0
18	47902296	A	T	18	50375926	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.53397514882839E-5	0.006
18	47906484	T	A	18	50380114	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.998859479827777	0.93
18	47906484	T	C	18	50380114	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00151425431910087	0.156
18	47906484	T	G	18	50380114	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.17756309811906	0.554
18	47906485	G	A	18	50380115	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.63390880612268E-5	0.016
18	47906485	G	C	18	50380115	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.04724408682161E-4	0.0
18	47906485	G	T	18	50380115	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.62395391644479E-4	0.04
18	47906486	T	A	18	50380116	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0124795436080236	0.246
18	47906486	T	C	18	50380116	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00165480593962927	0.084
18	47906486	T	G	18	50380116	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.205845815038086	0.382
18	47906487	T	A	18	50380117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00549390881319279	0.094
18	47906487	T	C	18	50380117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.20460026922949E-4	0.002
18	47906487	T	G	18	50380117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00244603181153207	0.092
18	47906488	T	A	18	50380118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0694741248500344	0.338
18	47906488	T	C	18	50380118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.5391879079592E-4	0.006
18	47906488	T	G	18	50380118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.125658340942869	0.476
18	47906489	A	C	18	50380119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.82657548891235E-5	0.008
18	47906489	A	G	18	50380119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.87937566149215E-5	0.006
18	47906489	A	T	18	50380119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.62578931268723E-5	0.016
18	47906490	T	A	18	50380120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.159399100464946	0.412
18	47906490	T	C	18	50380120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.29534525513701E-4	0.032
18	47906490	T	G	18	50380120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999609078824189	0.96
18	47906491	A	C	18	50380121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.32680112187345E-5	0.0
18	47906491	A	G	18	50380121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.60804011587787E-5	0.002
18	47906491	A	T	18	50380121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.32680112187345E-5	0.006
18	47906492	A	C	18	50380122	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.9251389867386E-5	0.0
18	47906492	A	G	18	50380122	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.937723882091724	0.662
18	47906492	A	T	18	50380122	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.48852385372789E-4	0.024
18	47906493	C	A	18	50380123	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.808882022504626	0.558
18	47906493	C	G	18	50380123	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999489820357036	0.88
18	47906493	C	T	18	50380123	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.41345678896667E-4	0.03
18	47906494	A	C	18	50380124	y	y	splicing	SKA1(NM_145060:exon3:c.89-2A>C;NM_001039535:exon3:c.89-2A>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.89-2A>C;ENST00000398452:exon3:c.89-2A>C;ENST00000417656:exon3:c.89-2A>C)	.	.	0.99994568797423	0.928
18	47906494	A	G	18	50380124	y	y	splicing	SKA1(NM_145060:exon3:c.89-2A>G;NM_001039535:exon3:c.89-2A>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.89-2A>G;ENST00000398452:exon3:c.89-2A>G;ENST00000417656:exon3:c.89-2A>G)	.	.	0.99994568797423	0.928
18	47906494	A	T	18	50380124	y	y	splicing	SKA1(NM_145060:exon3:c.89-2A>T;NM_001039535:exon3:c.89-2A>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.89-2A>T;ENST00000398452:exon3:c.89-2A>T;ENST00000417656:exon3:c.89-2A>T)	.	.	0.99994568797423	0.918
18	47906495	G	A	18	50380125	y	y	splicing	SKA1(NM_145060:exon3:c.89-1G>A;NM_001039535:exon3:c.89-1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.89-1G>A;ENST00000398452:exon3:c.89-1G>A;ENST00000417656:exon3:c.89-1G>A)	.	.	0.99995545544995	0.924
18	47906495	G	C	18	50380125	y	y	splicing	SKA1(NM_145060:exon3:c.89-1G>C;NM_001039535:exon3:c.89-1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.89-1G>C;ENST00000398452:exon3:c.89-1G>C;ENST00000417656:exon3:c.89-1G>C)	.	.	0.99995545544995	0.934
18	47906495	G	T	18	50380125	y	y	splicing	SKA1(NM_145060:exon3:c.89-1G>T;NM_001039535:exon3:c.89-1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.89-1G>T;ENST00000398452:exon3:c.89-1G>T;ENST00000417656:exon3:c.89-1G>T)	.	.	0.99995545544995	0.924
18	47906496	G	A	18	50380126	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.G89A:p.G30D;SKA1:NM_001039535:exon3:c.G89A:p.G30D;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.G89A:p.G30D;ENSG00000154839:ENST00000398452:exon3:c.G89A:p.G30D;ENSG00000154839:ENST00000417656:exon3:c.G89A:p.G30D;	0.998691062080478	0.88
18	47906496	G	C	18	50380126	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.G89C:p.G30A;SKA1:NM_001039535:exon3:c.G89C:p.G30A;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.G89C:p.G30A;ENSG00000154839:ENST00000398452:exon3:c.G89C:p.G30A;ENSG00000154839:ENST00000417656:exon3:c.G89C:p.G30A;	0.999606413049366	0.968
18	47906496	G	T	18	50380126	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.G89T:p.G30V;SKA1:NM_001039535:exon3:c.G89T:p.G30V;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.G89T:p.G30V;ENSG00000154839:ENST00000398452:exon3:c.G89T:p.G30V;ENSG00000154839:ENST00000417656:exon3:c.G89T:p.G30V;	0.999897821931263	0.978
18	47906497	C	A	18	50380127	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon3:c.C90A:p.G30G;SKA1:NM_001039535:exon3:c.C90A:p.G30G;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.C90A:p.G30G;ENSG00000154839:ENST00000398452:exon3:c.C90A:p.G30G;ENSG00000154839:ENST00000417656:exon3:c.C90A:p.G30G;	6.32759379338151E-5	0.01
18	47906497	C	G	18	50380127	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon3:c.C90G:p.G30G;SKA1:NM_001039535:exon3:c.C90G:p.G30G;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.C90G:p.G30G;ENSG00000154839:ENST00000398452:exon3:c.C90G:p.G30G;ENSG00000154839:ENST00000417656:exon3:c.C90G:p.G30G;	2.85917824493619E-5	0.004
18	47906497	C	T	18	50380127	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon3:c.C90T:p.G30G;SKA1:NM_001039535:exon3:c.C90T:p.G30G;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.C90T:p.G30G;ENSG00000154839:ENST00000398452:exon3:c.C90T:p.G30G;ENSG00000154839:ENST00000417656:exon3:c.C90T:p.G30G;	3.02161567759921E-5	0.0
18	47906618	A	C	18	50380248	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.A211C:p.K71Q;SKA1:NM_001039535:exon3:c.A211C:p.K71Q;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.A211C:p.K71Q;ENSG00000154839:ENST00000398452:exon3:c.A211C:p.K71Q;ENSG00000154839:ENST00000417656:exon3:c.A211C:p.K71Q;	0.68410779600965	0.456
18	47906618	A	G	18	50380248	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.A211G:p.K71E;SKA1:NM_001039535:exon3:c.A211G:p.K71E;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.A211G:p.K71E;ENSG00000154839:ENST00000398452:exon3:c.A211G:p.K71E;ENSG00000154839:ENST00000417656:exon3:c.A211G:p.K71E;	0.441919789314719	0.426
18	47906618	A	T	18	50380248	y	y	exonic	SKA1	stopgain SNV	SKA1:NM_145060:exon3:c.A211T:p.K71X;SKA1:NM_001039535:exon3:c.A211T:p.K71X;	exonic	ENSG00000154839	stopgain SNV	ENSG00000154839:ENST00000285116:exon3:c.A211T:p.K71X;ENSG00000154839:ENST00000398452:exon3:c.A211T:p.K71X;ENSG00000154839:ENST00000417656:exon3:c.A211T:p.K71X;	0.997265321480859	0.778
18	47906619	A	C	18	50380249	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.A212C:p.K71T;SKA1:NM_001039535:exon3:c.A212C:p.K71T;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.A212C:p.K71T;ENSG00000154839:ENST00000398452:exon3:c.A212C:p.K71T;ENSG00000154839:ENST00000417656:exon3:c.A212C:p.K71T;	0.999169137102178	0.978
18	47906619	A	G	18	50380249	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.A212G:p.K71R;SKA1:NM_001039535:exon3:c.A212G:p.K71R;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.A212G:p.K71R;ENSG00000154839:ENST00000398452:exon3:c.A212G:p.K71R;ENSG00000154839:ENST00000417656:exon3:c.A212G:p.K71R;	0.997564946305223	0.974
18	47906619	A	T	18	50380249	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.A212T:p.K71M;SKA1:NM_001039535:exon3:c.A212T:p.K71M;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.A212T:p.K71M;ENSG00000154839:ENST00000398452:exon3:c.A212T:p.K71M;ENSG00000154839:ENST00000417656:exon3:c.A212T:p.K71M;	0.99947505295752	0.994
18	47906620	G	A	18	50380250	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon3:c.G213A:p.K71K;SKA1:NM_001039535:exon3:c.G213A:p.K71K;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.G213A:p.K71K;ENSG00000154839:ENST00000398452:exon3:c.G213A:p.K71K;ENSG00000154839:ENST00000417656:exon3:c.G213A:p.K71K;	0.9999797655373	1.0
18	47906620	G	C	18	50380250	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.G213C:p.K71N;SKA1:NM_001039535:exon3:c.G213C:p.K71N;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.G213C:p.K71N;ENSG00000154839:ENST00000398452:exon3:c.G213C:p.K71N;ENSG00000154839:ENST00000417656:exon3:c.G213C:p.K71N;	0.999997178488777	0.996
18	47906620	G	T	18	50380250	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon3:c.G213T:p.K71N;SKA1:NM_001039535:exon3:c.G213T:p.K71N;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon3:c.G213T:p.K71N;ENSG00000154839:ENST00000398452:exon3:c.G213T:p.K71N;ENSG00000154839:ENST00000417656:exon3:c.G213T:p.K71N;	0.999993018555097	0.994
18	47906621	G	A	18	50380251	y	y	splicing	SKA1(NM_145060:exon3:c.213+1G>A;NM_001039535:exon3:c.213+1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.213+1G>A;ENST00000398452:exon3:c.213+1G>A;ENST00000417656:exon3:c.213+1G>A)	.	.	0.999990361384395	0.938
18	47906621	G	C	18	50380251	y	y	splicing	SKA1(NM_145060:exon3:c.213+1G>C;NM_001039535:exon3:c.213+1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.213+1G>C;ENST00000398452:exon3:c.213+1G>C;ENST00000417656:exon3:c.213+1G>C)	.	.	0.999990361384395	0.936
18	47906621	G	T	18	50380251	y	y	splicing	SKA1(NM_145060:exon3:c.213+1G>T;NM_001039535:exon3:c.213+1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.213+1G>T;ENST00000398452:exon3:c.213+1G>T;ENST00000417656:exon3:c.213+1G>T)	.	.	0.999990361384395	0.938
18	47906622	T	A	18	50380252	y	y	splicing	SKA1(NM_145060:exon3:c.213+2T>A;NM_001039535:exon3:c.213+2T>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.213+2T>A;ENST00000398452:exon3:c.213+2T>A;ENST00000417656:exon3:c.213+2T>A)	.	.	0.999988247793601	0.93
18	47906622	T	C	18	50380252	y	y	splicing	SKA1(NM_145060:exon3:c.213+2T>C;NM_001039535:exon3:c.213+2T>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.213+2T>C;ENST00000398452:exon3:c.213+2T>C;ENST00000417656:exon3:c.213+2T>C)	.	.	0.994063255842726	0.696
18	47906622	T	G	18	50380252	y	y	splicing	SKA1(NM_145060:exon3:c.213+2T>G;NM_001039535:exon3:c.213+2T>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon3:c.213+2T>G;ENST00000398452:exon3:c.213+2T>G;ENST00000417656:exon3:c.213+2T>G)	.	.	0.999988247793601	0.928
18	47906623	A	C	18	50380253	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999941336468487	0.938
18	47906623	A	G	18	50380253	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.997769757038751	0.882
18	47906623	A	T	18	50380253	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999858368750433	0.952
18	47906624	A	C	18	50380254	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.471828085082222	0.414
18	47906624	A	G	18	50380254	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.959024117911742	0.68
18	47906624	A	T	18	50380254	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.824269627340239	0.448
18	47906625	T	A	18	50380255	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00114462364264801	0.006
18	47906625	T	C	18	50380255	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.29428610987868E-4	0.006
18	47906625	T	G	18	50380255	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.11221157771409E-4	0.03
18	47906626	G	A	18	50380256	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00415926204876704	0.156
18	47906626	G	C	18	50380256	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0232832292301869	0.256
18	47906626	G	T	18	50380256	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00184988181191848	0.03
18	47906627	T	A	18	50380257	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	9.6880256444267E-5	0.0
18	47906627	T	C	18	50380257	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.06424287885102E-4	0.0
18	47906627	T	G	18	50380257	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.18506702175853E-4	0.0
18	47906628	T	A	18	50380258	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.52951581735779E-4	0.002
18	47906628	T	C	18	50380258	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.45618325016646E-4	0.006
18	47906628	T	G	18	50380258	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.12101787061195E-4	0.008
18	47908487	T	A	18	50382117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.832062714878363	0.718
18	47908487	T	C	18	50382117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00278607387812547	0.126
18	47908487	T	G	18	50382117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.861929662895639	0.648
18	47908488	T	A	18	50382118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.585086441862313	0.818
18	47908488	T	C	18	50382118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0530720475973282	0.322
18	47908488	T	G	18	50382118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.507408663269042	0.74
18	47908489	T	A	18	50382119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.102973315026852	0.562
18	47908489	T	C	18	50382119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.50852829172036E-4	0.084
18	47908489	T	G	18	50382119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.462486213608317	0.632
18	47908490	A	C	18	50382120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.35425700043312E-5	0.012
18	47908490	A	G	18	50382120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.00798605787375E-5	0.0
18	47908490	A	T	18	50382120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.27927186594803E-5	0.006
18	47908491	A	C	18	50382121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.58298743494232E-5	0.024
18	47908491	A	G	18	50382121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999339335755568	0.914
18	47908491	A	T	18	50382121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.2721448068704E-5	0.018
18	47908492	A	C	18	50382122	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.52275187077299E-4	0.01
18	47908492	A	G	18	50382122	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.998910034685751	0.954
18	47908492	A	T	18	50382122	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.41580507220555E-4	0.01
18	47908493	T	A	18	50382123	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.119523329432182	0.536
18	47908493	T	C	18	50382123	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.5223452871172E-5	0.06
18	47908493	T	G	18	50382123	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999960240529176	0.92
18	47908494	T	A	18	50382124	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.982735871757213	0.824
18	47908494	T	C	18	50382124	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0323646035907039	0.24
18	47908494	T	G	18	50382124	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.968696099209487	0.752
18	47908495	T	A	18	50382125	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00222357828067159	0.034
18	47908495	T	C	18	50382125	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.33674811272584E-4	0.092
18	47908495	T	G	18	50382125	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00178878508466399	0.096
18	47908496	T	A	18	50382126	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0651026680013985	0.312
18	47908496	T	C	18	50382126	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.68196348655166E-4	0.104
18	47908496	T	G	18	50382126	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.994205046187837	0.746
18	47908497	A	C	18	50382127	y	y	splicing	SKA1(NM_145060:exon4:c.214-2A>C;NM_001039535:exon4:c.214-2A>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.214-2A>C;ENST00000398452:exon4:c.214-2A>C;ENST00000417656:exon4:c.214-2A>C)	.	.	0.999986741007567	0.936
18	47908497	A	G	18	50382127	y	y	splicing	SKA1(NM_145060:exon4:c.214-2A>G;NM_001039535:exon4:c.214-2A>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.214-2A>G;ENST00000398452:exon4:c.214-2A>G;ENST00000417656:exon4:c.214-2A>G)	.	.	0.999986741007567	0.936
18	47908497	A	T	18	50382127	y	y	splicing	SKA1(NM_145060:exon4:c.214-2A>T;NM_001039535:exon4:c.214-2A>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.214-2A>T;ENST00000398452:exon4:c.214-2A>T;ENST00000417656:exon4:c.214-2A>T)	.	.	0.999986741007567	0.936
18	47908498	G	A	18	50382128	y	y	splicing	SKA1(NM_145060:exon4:c.214-1G>A;NM_001039535:exon4:c.214-1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.214-1G>A;ENST00000398452:exon4:c.214-1G>A;ENST00000417656:exon4:c.214-1G>A)	.	.	0.999984967332678	0.938
18	47908498	G	C	18	50382128	y	y	splicing	SKA1(NM_145060:exon4:c.214-1G>C;NM_001039535:exon4:c.214-1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.214-1G>C;ENST00000398452:exon4:c.214-1G>C;ENST00000417656:exon4:c.214-1G>C)	.	.	0.999984967332678	0.938
18	47908498	G	T	18	50382128	y	y	splicing	SKA1(NM_145060:exon4:c.214-1G>T;NM_001039535:exon4:c.214-1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.214-1G>T;ENST00000398452:exon4:c.214-1G>T;ENST00000417656:exon4:c.214-1G>T)	.	.	0.999984967332678	0.938
18	47908499	G	A	18	50382129	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.G214A:p.E72K;SKA1:NM_001039535:exon4:c.G214A:p.E72K;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.G214A:p.E72K;ENSG00000154839:ENST00000398452:exon4:c.G214A:p.E72K;ENSG00000154839:ENST00000417656:exon4:c.G214A:p.E72K;	0.999703748324694	0.924
18	47908499	G	C	18	50382129	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.G214C:p.E72Q;SKA1:NM_001039535:exon4:c.G214C:p.E72Q;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.G214C:p.E72Q;ENSG00000154839:ENST00000398452:exon4:c.G214C:p.E72Q;ENSG00000154839:ENST00000417656:exon4:c.G214C:p.E72Q;	0.999885262600282	0.982
18	47908499	G	T	18	50382129	y	y	exonic	SKA1	stopgain SNV	SKA1:NM_145060:exon4:c.G214T:p.E72X;SKA1:NM_001039535:exon4:c.G214T:p.E72X;	exonic	ENSG00000154839	stopgain SNV	ENSG00000154839:ENST00000285116:exon4:c.G214T:p.E72X;ENSG00000154839:ENST00000398452:exon4:c.G214T:p.E72X;ENSG00000154839:ENST00000417656:exon4:c.G214T:p.E72X;	0.999933176744153	0.978
18	47908500	A	C	18	50382130	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.A215C:p.E72A;SKA1:NM_001039535:exon4:c.A215C:p.E72A;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.A215C:p.E72A;ENSG00000154839:ENST00000398452:exon4:c.A215C:p.E72A;ENSG00000154839:ENST00000417656:exon4:c.A215C:p.E72A;	0.737038376427289	0.736
18	47908500	A	G	18	50382130	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.A215G:p.E72G;SKA1:NM_001039535:exon4:c.A215G:p.E72G;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.A215G:p.E72G;ENSG00000154839:ENST00000398452:exon4:c.A215G:p.E72G;ENSG00000154839:ENST00000417656:exon4:c.A215G:p.E72G;	0.713018564104964	0.654
18	47908500	A	T	18	50382130	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.A215T:p.E72V;SKA1:NM_001039535:exon4:c.A215T:p.E72V;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.A215T:p.E72V;ENSG00000154839:ENST00000398452:exon4:c.A215T:p.E72V;ENSG00000154839:ENST00000417656:exon4:c.A215T:p.E72V;	0.648254448441721	0.706
18	47908594	C	A	18	50382224	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.C309A:p.S103R;SKA1:NM_001039535:exon4:c.C309A:p.S103R;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.C309A:p.S103R;ENSG00000154839:ENST00000398452:exon4:c.C309A:p.S103R;ENSG00000154839:ENST00000417656:exon4:c.C309A:p.S103R;	4.31464450059196E-5	0.04
18	47908594	C	G	18	50382224	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.C309G:p.S103R;SKA1:NM_001039535:exon4:c.C309G:p.S103R;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.C309G:p.S103R;ENSG00000154839:ENST00000398452:exon4:c.C309G:p.S103R;ENSG00000154839:ENST00000417656:exon4:c.C309G:p.S103R;	1.02227977312086E-4	0.038
18	47908594	C	T	18	50382224	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon4:c.C309T:p.S103S;SKA1:NM_001039535:exon4:c.C309T:p.S103S;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.C309T:p.S103S;ENSG00000154839:ENST00000398452:exon4:c.C309T:p.S103S;ENSG00000154839:ENST00000417656:exon4:c.C309T:p.S103S;	3.89282408184892E-4	0.064
18	47908595	T	A	18	50382225	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.T310A:p.C104S;SKA1:NM_001039535:exon4:c.T310A:p.C104S;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.T310A:p.C104S;ENSG00000154839:ENST00000398452:exon4:c.T310A:p.C104S;ENSG00000154839:ENST00000417656:exon4:c.T310A:p.W104R;	1.48437629026343E-4	0.118
18	47908595	T	C	18	50382225	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.T310C:p.C104R;SKA1:NM_001039535:exon4:c.T310C:p.C104R;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.T310C:p.C104R;ENSG00000154839:ENST00000398452:exon4:c.T310C:p.C104R;ENSG00000154839:ENST00000417656:exon4:c.T310C:p.W104R;	2.49419902881728E-4	0.0
18	47908595	T	G	18	50382225	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.T310G:p.C104G;SKA1:NM_001039535:exon4:c.T310G:p.C104G;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.T310G:p.C104G;ENSG00000154839:ENST00000398452:exon4:c.T310G:p.C104G;ENSG00000154839:ENST00000417656:exon4:c.T310G:p.W104G;	8.15137767794282E-5	0.004
18	47908596	G	A	18	50382226	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.G311A:p.C104Y;SKA1:NM_001039535:exon4:c.G311A:p.C104Y;	exonic	ENSG00000154839	stopgain SNV	ENSG00000154839:ENST00000417656:exon4:c.G311A:p.W104X;	0.915670327434672	0.496
18	47908596	G	C	18	50382226	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.G311C:p.C104S;SKA1:NM_001039535:exon4:c.G311C:p.C104S;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.G311C:p.C104S;ENSG00000154839:ENST00000398452:exon4:c.G311C:p.C104S;ENSG00000154839:ENST00000417656:exon4:c.G311C:p.W104S;	0.467721538633447	0.646
18	47908596	G	T	18	50382226	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon4:c.G311T:p.C104F;SKA1:NM_001039535:exon4:c.G311T:p.C104F;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon4:c.G311T:p.C104F;ENSG00000154839:ENST00000398452:exon4:c.G311T:p.C104F;ENSG00000154839:ENST00000417656:exon4:c.G311T:p.W104L;	0.649640729035451	0.648
18	47908597	G	A	18	50382227	y	y	splicing	SKA1(NM_145060:exon4:c.311+1G>A;NM_001039535:exon4:c.311+1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.311+1G>A;ENST00000398452:exon4:c.311+1G>A;ENST00000417656:exon4:c.311+1G>A)	.	.	0.999960200702261	0.936
18	47908597	G	C	18	50382227	y	y	splicing	SKA1(NM_145060:exon4:c.311+1G>C;NM_001039535:exon4:c.311+1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.311+1G>C;ENST00000398452:exon4:c.311+1G>C;ENST00000417656:exon4:c.311+1G>C)	.	.	0.999945530492988	0.906
18	47908597	G	T	18	50382227	y	y	splicing	SKA1(NM_145060:exon4:c.311+1G>T;NM_001039535:exon4:c.311+1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.311+1G>T;ENST00000398452:exon4:c.311+1G>T;ENST00000417656:exon4:c.311+1G>T)	.	.	0.999958812450268	0.934
18	47908598	T	A	18	50382228	y	y	splicing	SKA1(NM_145060:exon4:c.311+2T>A;NM_001039535:exon4:c.311+2T>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.311+2T>A;ENST00000398452:exon4:c.311+2T>A;ENST00000417656:exon4:c.311+2T>A)	.	.	0.999946188727699	0.936
18	47908598	T	C	18	50382228	y	y	splicing	SKA1(NM_145060:exon4:c.311+2T>C;NM_001039535:exon4:c.311+2T>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.311+2T>C;ENST00000398452:exon4:c.311+2T>C;ENST00000417656:exon4:c.311+2T>C)	.	.	0.971713146418716	0.6
18	47908598	T	G	18	50382228	y	y	splicing	SKA1(NM_145060:exon4:c.311+2T>G;NM_001039535:exon4:c.311+2T>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon4:c.311+2T>G;ENST00000398452:exon4:c.311+2T>G;ENST00000417656:exon4:c.311+2T>G)	.	.	0.999964896440643	0.934
18	47908599	A	C	18	50382229	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.933973226273604	0.668
18	47908599	A	G	18	50382229	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00138838498057412	0.024
18	47908599	A	T	18	50382229	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.991100378821275	0.606
18	47908600	A	C	18	50382230	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.619319346788957	0.524
18	47908600	A	G	18	50382230	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.850249358625165	0.484
18	47908600	A	T	18	50382230	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.49751179120422	0.54
18	47908601	G	A	18	50382231	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999153742069104	0.934
18	47908601	G	C	18	50382231	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999634996857295	0.878
18	47908601	G	T	18	50382231	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.998697796718017	0.922
18	47908602	T	A	18	50382232	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.181435509012488	0.338
18	47908602	T	C	18	50382232	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.380630516132326	0.358
18	47908602	T	G	18	50382232	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0317400138510534	0.248
18	47908603	G	A	18	50382233	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.02651939027975E-5	0.0
18	47908603	G	C	18	50382233	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.45605582199301E-5	0.0
18	47908603	G	T	18	50382233	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.2706298460972E-5	0.006
18	47908604	T	A	18	50382234	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.3099781559464E-4	0.0
18	47908604	T	C	18	50382234	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.12581597765867E-4	0.0
18	47908604	T	G	18	50382234	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.1365987394554E-4	0.0
18	47911574	T	A	18	50385204	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999954844249153	0.978
18	47911574	T	C	18	50385204	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00728387408529895	0.162
18	47911574	T	G	18	50385204	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.917188325136578	0.694
18	47911575	G	A	18	50385205	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.45408312108829E-4	0.032
18	47911575	G	C	18	50385205	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.60252425098957E-5	0.0
18	47911575	G	T	18	50385205	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.14188886974573E-5	0.07
18	47911576	T	A	18	50385206	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.763164792553785	0.57
18	47911576	T	C	18	50385206	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00972076434056603	0.18
18	47911576	T	G	18	50385206	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.7997522337323	0.608
18	47911577	A	C	18	50385207	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.89171835944506E-6	0.0
18	47911577	A	G	18	50385207	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.32220190240003E-5	0.0
18	47911577	A	T	18	50385207	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.27219349862041E-5	0.0
18	47911578	T	A	18	50385208	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0101052445342288	0.27
18	47911578	T	C	18	50385208	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.00320923812636E-5	0.006
18	47911578	T	G	18	50385208	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999919950712785	0.958
18	47911579	T	A	18	50385209	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00367088962415667	0.16
18	47911579	T	C	18	50385209	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.84282062377852E-4	0.016
18	47911579	T	G	18	50385209	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00558059860362466	0.15
18	47911580	C	A	18	50385210	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00812252129265882	0.24
18	47911580	C	G	18	50385210	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0018673210229642	0.204
18	47911580	C	T	18	50385210	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.17901533219336E-5	0.002
18	47911581	T	A	18	50385211	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.998677681613768	0.94
18	47911581	T	C	18	50385211	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.9374378222494E-4	0.078
18	47911581	T	G	18	50385211	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.843570440066611	0.572
18	47911582	G	A	18	50385212	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.75130897653928E-5	0.0
18	47911582	G	C	18	50385212	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.20483758077956E-5	0.002
18	47911582	G	T	18	50385212	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.99881253190637E-5	0.0
18	47911583	T	A	18	50385213	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.832467948584986	0.48
18	47911583	T	C	18	50385213	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	6.49315070298833E-5	0.126
18	47911583	T	G	18	50385213	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.99891969984677	0.808
18	47911584	A	C	18	50385214	y	y	splicing	SKA1(NM_145060:exon5:c.312-2A>C;NM_001039535:exon5:c.312-2A>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.312-2A>C;ENST00000398452:exon5:c.312-2A>C)	.	.	0.999986741007567	0.938
18	47911584	A	G	18	50385214	y	y	splicing	SKA1(NM_145060:exon5:c.312-2A>G;NM_001039535:exon5:c.312-2A>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.312-2A>G;ENST00000398452:exon5:c.312-2A>G)	.	.	0.999986741007567	0.938
18	47911584	A	T	18	50385214	y	y	splicing	SKA1(NM_145060:exon5:c.312-2A>T;NM_001039535:exon5:c.312-2A>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.312-2A>T;ENST00000398452:exon5:c.312-2A>T)	.	.	0.999986741007567	0.938
18	47911585	G	A	18	50385215	y	y	splicing	SKA1(NM_145060:exon5:c.312-1G>A;NM_001039535:exon5:c.312-1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.312-1G>A;ENST00000398452:exon5:c.312-1G>A)	.	.	0.999977023129593	0.944
18	47911585	G	C	18	50385215	y	y	splicing	SKA1(NM_145060:exon5:c.312-1G>C;NM_001039535:exon5:c.312-1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.312-1G>C;ENST00000398452:exon5:c.312-1G>C)	.	.	0.999957463895455	0.938
18	47911585	G	T	18	50385215	y	y	splicing	SKA1(NM_145060:exon5:c.312-1G>T;NM_001039535:exon5:c.312-1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.312-1G>T;ENST00000398452:exon5:c.312-1G>T)	.	.	0.999957463895455	0.944
18	47911586	T	A	18	50385216	y	y	exonic	SKA1	stopgain SNV	SKA1:NM_145060:exon5:c.T312A:p.C104X;SKA1:NM_001039535:exon5:c.T312A:p.C104X;	exonic	ENSG00000154839	stopgain SNV	ENSG00000154839:ENST00000285116:exon5:c.T312A:p.C104X;ENSG00000154839:ENST00000398452:exon5:c.T312A:p.C104X;	2.17374936794598E-4	0.338
18	47911586	T	C	18	50385216	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon5:c.T312C:p.C104C;SKA1:NM_001039535:exon5:c.T312C:p.C104C;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.T312C:p.C104C;ENSG00000154839:ENST00000398452:exon5:c.T312C:p.C104C;	1.12995639870405E-4	0.09
18	47911586	T	G	18	50385216	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.T312G:p.C104W;SKA1:NM_001039535:exon5:c.T312G:p.C104W;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.T312G:p.C104W;ENSG00000154839:ENST00000398452:exon5:c.T312G:p.C104W;	4.6470005035199E-4	0.172
18	47911587	G	A	18	50385217	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.G313A:p.V105I;SKA1:NM_001039535:exon5:c.G313A:p.V105I;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.G313A:p.V105I;ENSG00000154839:ENST00000398452:exon5:c.G313A:p.V105I;	9.37557142128287E-4	0.038
18	47911587	G	C	18	50385217	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.G313C:p.V105L;SKA1:NM_001039535:exon5:c.G313C:p.V105L;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.G313C:p.V105L;ENSG00000154839:ENST00000398452:exon5:c.G313C:p.V105L;	7.59406975019128E-4	0.014
18	47911587	G	T	18	50385217	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.G313T:p.V105F;SKA1:NM_001039535:exon5:c.G313T:p.V105F;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.G313T:p.V105F;ENSG00000154839:ENST00000398452:exon5:c.G313T:p.V105F;	0.00139186657507765	0.014
18	47911721	T	A	18	50385351	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon5:c.T447A:p.P149P;SKA1:NM_001039535:exon5:c.T447A:p.P149P;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.T447A:p.P149P;ENSG00000154839:ENST00000494518:exon4:c.T39A:p.P13P;ENSG00000154839:ENST00000398452:exon5:c.T447A:p.P149P;	4.18756704492294E-5	0.004
18	47911721	T	C	18	50385351	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon5:c.T447C:p.P149P;SKA1:NM_001039535:exon5:c.T447C:p.P149P;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.T447C:p.P149P;ENSG00000154839:ENST00000494518:exon4:c.T39C:p.P13P;ENSG00000154839:ENST00000398452:exon5:c.T447C:p.P149P;	9.28814093562867E-5	0.0
18	47911721	T	G	18	50385351	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon5:c.T447G:p.P149P;SKA1:NM_001039535:exon5:c.T447G:p.P149P;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.T447G:p.P149P;ENSG00000154839:ENST00000494518:exon4:c.T39G:p.P13P;ENSG00000154839:ENST00000398452:exon5:c.T447G:p.P149P;	1.00363256323978E-4	0.026
18	47911722	T	A	18	50385352	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.T448A:p.S150T;SKA1:NM_001039535:exon5:c.T448A:p.S150T;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.T448A:p.S150T;ENSG00000154839:ENST00000494518:exon4:c.T40A:p.S14T;ENSG00000154839:ENST00000398452:exon5:c.T448A:p.S150T;	1.14470950208864E-4	0.072
18	47911722	T	C	18	50385352	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.T448C:p.S150P;SKA1:NM_001039535:exon5:c.T448C:p.S150P;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.T448C:p.S150P;ENSG00000154839:ENST00000494518:exon4:c.T40C:p.S14P;ENSG00000154839:ENST00000398452:exon5:c.T448C:p.S150P;	1.25396207842057E-4	0.008
18	47911722	T	G	18	50385352	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.T448G:p.S150A;SKA1:NM_001039535:exon5:c.T448G:p.S150A;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.T448G:p.S150A;ENSG00000154839:ENST00000494518:exon4:c.T40G:p.S14A;ENSG00000154839:ENST00000398452:exon5:c.T448G:p.S150A;	9.62818805403486E-5	0.048
18	47911723	C	A	18	50385353	y	y	exonic	SKA1	stopgain SNV	SKA1:NM_145060:exon5:c.C449A:p.S150X;SKA1:NM_001039535:exon5:c.C449A:p.S150X;	exonic	ENSG00000154839	stopgain SNV	ENSG00000154839:ENST00000285116:exon5:c.C449A:p.S150X;ENSG00000154839:ENST00000494518:exon4:c.C41A:p.S14X;ENSG00000154839:ENST00000398452:exon5:c.C449A:p.S150X;	0.401464369535531	0.49
18	47911723	C	G	18	50385353	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.C449G:p.S150W;SKA1:NM_001039535:exon5:c.C449G:p.S150W;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.C449G:p.S150W;ENSG00000154839:ENST00000494518:exon4:c.C41G:p.S14W;ENSG00000154839:ENST00000398452:exon5:c.C449G:p.S150W;	0.11329644781412	0.436
18	47911723	C	T	18	50385353	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon5:c.C449T:p.S150L;SKA1:NM_001039535:exon5:c.C449T:p.S150L;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon5:c.C449T:p.S150L;ENSG00000154839:ENST00000494518:exon4:c.C41T:p.S14L;ENSG00000154839:ENST00000398452:exon5:c.C449T:p.S150L;	0.0484310878503075	0.19
18	47911724	G	A	18	50385354	y	y	splicing	SKA1(NM_145060:exon5:c.449+1G>A;NM_001039535:exon5:c.449+1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.449+1G>A;ENST00000398452:exon5:c.449+1G>A;ENST00000494518:exon4:c.41+1G>A)	.	.	0.999973000532412	0.92
18	47911724	G	C	18	50385354	y	y	splicing	SKA1(NM_145060:exon5:c.449+1G>C;NM_001039535:exon5:c.449+1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.449+1G>C;ENST00000398452:exon5:c.449+1G>C;ENST00000494518:exon4:c.41+1G>C)	.	.	0.999973000532412	0.924
18	47911724	G	T	18	50385354	y	y	splicing	SKA1(NM_145060:exon5:c.449+1G>T;NM_001039535:exon5:c.449+1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.449+1G>T;ENST00000398452:exon5:c.449+1G>T;ENST00000494518:exon4:c.41+1G>T)	.	.	0.999973000532412	0.924
18	47911725	T	A	18	50385355	y	y	splicing	SKA1(NM_145060:exon5:c.449+2T>A;NM_001039535:exon5:c.449+2T>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.449+2T>A;ENST00000398452:exon5:c.449+2T>A;ENST00000494518:exon4:c.41+2T>A)	.	.	0.999986607513753	0.918
18	47911725	T	C	18	50385355	y	y	splicing	SKA1(NM_145060:exon5:c.449+2T>C;NM_001039535:exon5:c.449+2T>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.449+2T>C;ENST00000398452:exon5:c.449+2T>C;ENST00000494518:exon4:c.41+2T>C)	.	.	0.988442841961622	0.574
18	47911725	T	G	18	50385355	y	y	splicing	SKA1(NM_145060:exon5:c.449+2T>G;NM_001039535:exon5:c.449+2T>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon5:c.449+2T>G;ENST00000398452:exon5:c.449+2T>G;ENST00000494518:exon4:c.41+2T>G)	.	.	0.999986607513753	0.918
18	47911726	A	C	18	50385356	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999521009508041	0.904
18	47911726	A	G	18	50385356	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0630530830964378	0.354
18	47911726	A	T	18	50385356	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.99983409018718	0.912
18	47911727	A	C	18	50385357	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.99989103896946	0.876
18	47911727	A	G	18	50385357	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.998552533739104	0.978
18	47911727	A	T	18	50385357	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999030486748741	0.94
18	47911728	G	A	18	50385358	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999974845011611	0.998
18	47911728	G	C	18	50385358	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999984493604872	0.99
18	47911728	G	T	18	50385358	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.9999668662705	0.992
18	47911729	T	A	18	50385359	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.994656588935828	0.764
18	47911729	T	C	18	50385359	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.987941140818551	0.82
18	47911729	T	G	18	50385359	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.99257066659848	0.818
18	47911730	A	C	18	50385360	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00523432032060962	0.034
18	47911730	A	G	18	50385360	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00523432032060962	0.032
18	47911730	A	T	18	50385360	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00539132339124758	0.026
18	47911731	T	A	18	50385361	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.62834069016584E-4	0.006
18	47911731	T	C	18	50385361	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.70468354515916E-4	0.0
18	47911731	T	G	18	50385361	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	8.22238778439322E-4	0.008
18	47917482	A	C	18	50391112	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.13106523844686E-6	0.0
18	47917482	A	G	18	50391112	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.50527737589402E-5	0.012
18	47917482	A	T	18	50391112	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.53980235418604E-5	0.0
18	47917483	C	A	18	50391113	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.50629193283297E-4	0.052
18	47917483	C	G	18	50391113	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.979478425161139	0.98
18	47917483	C	T	18	50391113	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.0291873933743E-5	0.0
18	47917484	T	A	18	50391114	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00487825368056952	0.144
18	47917484	T	C	18	50391114	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.95587237271249E-4	0.0
18	47917484	T	G	18	50391114	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.76225118534447E-4	0.122
18	47917485	T	A	18	50391115	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0337341249508251	0.398
18	47917485	T	C	18	50391115	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.30995100795083E-4	0.008
18	47917485	T	G	18	50391115	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00948315087901044	0.382
18	47917486	T	A	18	50391116	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0687993893677405	0.216
18	47917486	T	C	18	50391116	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	8.06757163104277E-5	0.0
18	47917486	T	G	18	50391116	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00814139806090662	0.196
18	47917487	T	A	18	50391117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.669040045438555	0.55
18	47917487	T	C	18	50391117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.7258194239091E-4	0.012
18	47917487	T	G	18	50391117	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.14446725690145	0.406
18	47917488	T	A	18	50391118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.804451510077938	0.776
18	47917488	T	C	18	50391118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.11526229840554E-4	0.006
18	47917488	T	G	18	50391118	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.941682312099845	0.79
18	47917489	T	A	18	50391119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.49359384939384	0.554
18	47917489	T	C	18	50391119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.24232608454028E-4	0.04
18	47917489	T	G	18	50391119	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.678775893611562	0.554
18	47917490	A	C	18	50391120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.54199379785796E-5	0.006
18	47917490	A	G	18	50391120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	6.90783736009296E-5	0.012
18	47917490	A	T	18	50391120	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.28758710204623E-5	0.002
18	47917491	C	A	18	50391121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.46543021865825	0.416
18	47917491	C	G	18	50391121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999087149381838	0.802
18	47917491	C	T	18	50391121	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00213767580801481	0.094
18	47917492	A	C	18	50391122	y	y	splicing	SKA1(NM_145060:exon6:c.450-2A>C;NM_001039535:exon6:c.450-2A>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.450-2A>C;ENST00000398452:exon6:c.450-2A>C;ENST00000417656:exon5:c.312-2A>C;ENST00000494518:exon5:c.42-2A>C)	.	.	0.999988247793601	0.93
18	47917492	A	G	18	50391122	y	y	splicing	SKA1(NM_145060:exon6:c.450-2A>G;NM_001039535:exon6:c.450-2A>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.450-2A>G;ENST00000398452:exon6:c.450-2A>G;ENST00000417656:exon5:c.312-2A>G;ENST00000494518:exon5:c.42-2A>G)	.	.	0.999988247793601	0.93
18	47917492	A	T	18	50391122	y	y	splicing	SKA1(NM_145060:exon6:c.450-2A>T;NM_001039535:exon6:c.450-2A>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.450-2A>T;ENST00000398452:exon6:c.450-2A>T;ENST00000417656:exon5:c.312-2A>T;ENST00000494518:exon5:c.42-2A>T)	.	.	0.999988247793601	0.93
18	47917493	G	A	18	50391123	y	y	splicing	SKA1(NM_145060:exon6:c.450-1G>A;NM_001039535:exon6:c.450-1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.450-1G>A;ENST00000398452:exon6:c.450-1G>A;ENST00000417656:exon5:c.312-1G>A;ENST00000494518:exon5:c.42-1G>A)	.	.	0.999989263107695	0.936
18	47917493	G	C	18	50391123	y	y	splicing	SKA1(NM_145060:exon6:c.450-1G>C;NM_001039535:exon6:c.450-1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.450-1G>C;ENST00000398452:exon6:c.450-1G>C;ENST00000417656:exon5:c.312-1G>C;ENST00000494518:exon5:c.42-1G>C)	.	.	0.999989263107695	0.936
18	47917493	G	T	18	50391123	y	y	splicing	SKA1(NM_145060:exon6:c.450-1G>T;NM_001039535:exon6:c.450-1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.450-1G>T;ENST00000398452:exon6:c.450-1G>T;ENST00000417656:exon5:c.312-1G>T;ENST00000494518:exon5:c.42-1G>T)	.	.	0.999989263107695	0.932
18	47917494	G	A	18	50391124	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon6:c.G450A:p.S150S;SKA1:NM_001039535:exon6:c.G450A:p.S150S;	exonic	ENSG00000154839	stopgain SNV	ENSG00000154839:ENST00000417656:exon5:c.G312A:p.W104X;	0.00174206378730269	0.194
18	47917494	G	C	18	50391124	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon6:c.G450C:p.S150S;SKA1:NM_001039535:exon6:c.G450C:p.S150S;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000417656:exon5:c.G312C:p.W104C;	0.00899389061246298	0.136
18	47917494	G	T	18	50391124	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon6:c.G450T:p.S150S;SKA1:NM_001039535:exon6:c.G450T:p.S150S;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000417656:exon5:c.G312T:p.W104C;	0.208314042229795	0.236
18	47917495	T	A	18	50391125	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.T451A:p.Y151N;SKA1:NM_001039535:exon6:c.T451A:p.Y151N;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.T451A:p.Y151N;ENSG00000154839:ENST00000494518:exon5:c.T43A:p.Y15N;ENSG00000154839:ENST00000398452:exon6:c.T451A:p.Y151N;ENSG00000154839:ENST00000417656:exon5:c.T313A:p.Y105N;	0.828328834723127	0.584
18	47917495	T	C	18	50391125	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.T451C:p.Y151H;SKA1:NM_001039535:exon6:c.T451C:p.Y151H;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.T451C:p.Y151H;ENSG00000154839:ENST00000494518:exon5:c.T43C:p.Y15H;ENSG00000154839:ENST00000398452:exon6:c.T451C:p.Y151H;ENSG00000154839:ENST00000417656:exon5:c.T313C:p.Y105H;	0.760955263474349	0.636
18	47917495	T	G	18	50391125	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.T451G:p.Y151D;SKA1:NM_001039535:exon6:c.T451G:p.Y151D;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.T451G:p.Y151D;ENSG00000154839:ENST00000494518:exon5:c.T43G:p.Y15D;ENSG00000154839:ENST00000398452:exon6:c.T451G:p.Y151D;ENSG00000154839:ENST00000417656:exon5:c.T313G:p.Y105D;	0.826300864881906	0.6
18	47917661	A	C	18	50391291	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.A617C:p.K206T;SKA1:NM_001039535:exon6:c.A617C:p.K206T;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.A617C:p.K206T;ENSG00000154839:ENST00000494518:exon5:c.A209C:p.K70T;ENSG00000154839:ENST00000398452:exon6:c.A617C:p.K206T;ENSG00000154839:ENST00000417656:exon5:c.A479C:p.K160T;ENSG00000154839:ENST00000488454:exon4:c.A164C:p.K55T;	0.894549675837803	0.792
18	47917661	A	G	18	50391291	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.A617G:p.K206R;SKA1:NM_001039535:exon6:c.A617G:p.K206R;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.A617G:p.K206R;ENSG00000154839:ENST00000494518:exon5:c.A209G:p.K70R;ENSG00000154839:ENST00000398452:exon6:c.A617G:p.K206R;ENSG00000154839:ENST00000417656:exon5:c.A479G:p.K160R;ENSG00000154839:ENST00000488454:exon4:c.A164G:p.K55R;	0.499877172947878	0.558
18	47917661	A	T	18	50391291	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.A617T:p.K206I;SKA1:NM_001039535:exon6:c.A617T:p.K206I;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.A617T:p.K206I;ENSG00000154839:ENST00000494518:exon5:c.A209T:p.K70I;ENSG00000154839:ENST00000398452:exon6:c.A617T:p.K206I;ENSG00000154839:ENST00000417656:exon5:c.A479T:p.K160I;ENSG00000154839:ENST00000488454:exon4:c.A164T:p.K55I;	0.996132806984943	0.796
18	47917662	A	C	18	50391292	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.A618C:p.K206N;SKA1:NM_001039535:exon6:c.A618C:p.K206N;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.A618C:p.K206N;ENSG00000154839:ENST00000494518:exon5:c.A210C:p.K70N;ENSG00000154839:ENST00000398452:exon6:c.A618C:p.K206N;ENSG00000154839:ENST00000417656:exon5:c.A480C:p.K160N;ENSG00000154839:ENST00000488454:exon4:c.A165C:p.K55N;	0.999721750803052	0.992
18	47917662	A	G	18	50391292	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon6:c.A618G:p.K206K;SKA1:NM_001039535:exon6:c.A618G:p.K206K;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.A618G:p.K206K;ENSG00000154839:ENST00000494518:exon5:c.A210G:p.K70K;ENSG00000154839:ENST00000398452:exon6:c.A618G:p.K206K;ENSG00000154839:ENST00000417656:exon5:c.A480G:p.K160K;ENSG00000154839:ENST00000488454:exon4:c.A165G:p.K55K;	0.998115744758184	0.974
18	47917662	A	T	18	50391292	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.A618T:p.K206N;SKA1:NM_001039535:exon6:c.A618T:p.K206N;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.A618T:p.K206N;ENSG00000154839:ENST00000494518:exon5:c.A210T:p.K70N;ENSG00000154839:ENST00000398452:exon6:c.A618T:p.K206N;ENSG00000154839:ENST00000417656:exon5:c.A480T:p.K160N;ENSG00000154839:ENST00000488454:exon4:c.A165T:p.K55N;	0.999893810537771	0.998
18	47917663	G	A	18	50391293	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.G619A:p.G207S;SKA1:NM_001039535:exon6:c.G619A:p.G207S;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.G619A:p.G207S;ENSG00000154839:ENST00000494518:exon5:c.G211A:p.G71S;ENSG00000154839:ENST00000398452:exon6:c.G619A:p.G207S;ENSG00000154839:ENST00000417656:exon5:c.G481A:p.G161S;ENSG00000154839:ENST00000488454:exon4:c.G166A:p.G56S;	0.999995331779144	1.0
18	47917663	G	C	18	50391293	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.G619C:p.G207R;SKA1:NM_001039535:exon6:c.G619C:p.G207R;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.G619C:p.G207R;ENSG00000154839:ENST00000494518:exon5:c.G211C:p.G71R;ENSG00000154839:ENST00000398452:exon6:c.G619C:p.G207R;ENSG00000154839:ENST00000417656:exon5:c.G481C:p.G161R;ENSG00000154839:ENST00000488454:exon4:c.G166C:p.G56R;	0.999998122414291	1.0
18	47917663	G	T	18	50391293	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon6:c.G619T:p.G207C;SKA1:NM_001039535:exon6:c.G619T:p.G207C;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon6:c.G619T:p.G207C;ENSG00000154839:ENST00000494518:exon5:c.G211T:p.G71C;ENSG00000154839:ENST00000398452:exon6:c.G619T:p.G207C;ENSG00000154839:ENST00000417656:exon5:c.G481T:p.G161C;ENSG00000154839:ENST00000488454:exon4:c.G166T:p.G56C;	0.999991996085566	1.0
18	47917664	G	A	18	50391294	y	y	splicing	SKA1(NM_145060:exon6:c.619+1G>A;NM_001039535:exon6:c.619+1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.619+1G>A;ENST00000398452:exon6:c.619+1G>A;ENST00000417656:exon5:c.481+1G>A;ENST00000488454:exon4:c.166+1G>A;ENST00000494518:exon5:c.211+1G>A)	.	.	0.999990361384395	0.938
18	47917664	G	C	18	50391294	y	y	splicing	SKA1(NM_145060:exon6:c.619+1G>C;NM_001039535:exon6:c.619+1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.619+1G>C;ENST00000398452:exon6:c.619+1G>C;ENST00000417656:exon5:c.481+1G>C;ENST00000488454:exon4:c.166+1G>C;ENST00000494518:exon5:c.211+1G>C)	.	.	0.999990361384395	0.938
18	47917664	G	T	18	50391294	y	y	splicing	SKA1(NM_145060:exon6:c.619+1G>T;NM_001039535:exon6:c.619+1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.619+1G>T;ENST00000398452:exon6:c.619+1G>T;ENST00000417656:exon5:c.481+1G>T;ENST00000488454:exon4:c.166+1G>T;ENST00000494518:exon5:c.211+1G>T)	.	.	0.999990361384395	0.938
18	47917665	T	A	18	50391295	y	y	splicing	SKA1(NM_145060:exon6:c.619+2T>A;NM_001039535:exon6:c.619+2T>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.619+2T>A;ENST00000398452:exon6:c.619+2T>A;ENST00000417656:exon5:c.481+2T>A;ENST00000488454:exon4:c.166+2T>A;ENST00000494518:exon5:c.211+2T>A)	.	.	0.999988247793601	0.93
18	47917665	T	C	18	50391295	y	y	splicing	SKA1(NM_145060:exon6:c.619+2T>C;NM_001039535:exon6:c.619+2T>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.619+2T>C;ENST00000398452:exon6:c.619+2T>C;ENST00000417656:exon5:c.481+2T>C;ENST00000488454:exon4:c.166+2T>C;ENST00000494518:exon5:c.211+2T>C)	.	.	0.992577803696025	0.692
18	47917665	T	G	18	50391295	y	y	splicing	SKA1(NM_145060:exon6:c.619+2T>G;NM_001039535:exon6:c.619+2T>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon6:c.619+2T>G;ENST00000398452:exon6:c.619+2T>G;ENST00000417656:exon5:c.481+2T>G;ENST00000488454:exon4:c.166+2T>G;ENST00000494518:exon5:c.211+2T>G)	.	.	0.999988247793601	0.93
18	47917666	A	C	18	50391296	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.999885139439939	0.976
18	47917666	A	G	18	50391296	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.997465800829755	0.922
18	47917666	A	T	18	50391296	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.99972499126806	0.922
18	47917667	A	C	18	50391297	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.131583644642868	0.424
18	47917667	A	G	18	50391297	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.199823835771473	0.442
18	47917667	A	T	18	50391297	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.151424309734972	0.408
18	47917668	A	C	18	50391298	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.66146222123799E-4	0.028
18	47917668	A	G	18	50391298	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	4.22962300537453E-4	0.084
18	47917668	A	T	18	50391298	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.05556661273251E-4	0.006
18	47917669	A	C	18	50391299	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.25973613899434E-4	0.02
18	47917669	A	G	18	50391299	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.08519160275625E-5	0.0
18	47917669	A	T	18	50391299	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.80128002791154E-5	0.012
18	47917670	T	A	18	50391300	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.08068143624481E-4	0.0
18	47917670	T	C	18	50391300	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.08068143624481E-4	0.0
18	47917670	T	G	18	50391300	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	6.13070713883436E-5	0.0
18	47917671	G	A	18	50391301	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.68410782966625E-5	0.0
18	47917671	G	C	18	50391301	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	9.36357085537149E-5	0.0
18	47917671	G	T	18	50391301	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.38270072356886E-5	0.0
18	47918457	C	A	18	50392087	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	5.94235726093512E-5	0.008
18	47918457	C	G	18	50392087	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	6.36677208100086E-5	0.02
18	47918457	C	T	18	50392087	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.01243025682001E-5	0.0
18	47918458	T	A	18	50392088	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.18417040607243	0.3
18	47918458	T	C	18	50392088	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	8.4390965532988E-4	0.02
18	47918458	T	G	18	50392088	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0602402590340935	0.272
18	47918459	T	A	18	50392089	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00468750487245566	0.136
18	47918459	T	C	18	50392089	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	1.82904547424715E-4	0.002
18	47918459	T	G	18	50392089	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00564131867549687	0.182
18	47918460	T	A	18	50392090	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0465342666844893	0.47
18	47918460	T	C	18	50392090	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.29848388770872E-4	0.028
18	47918460	T	G	18	50392090	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.126335153838031	0.476
18	47918461	A	C	18	50392091	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.5345097955732E-5	0.0
18	47918461	A	G	18	50392091	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.31733714878342E-5	0.0
18	47918461	A	T	18	50392091	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	3.29215677829943E-5	0.0
18	47918462	T	A	18	50392092	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0256750531923303	0.136
18	47918462	T	C	18	50392092	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.88289134468855E-4	0.0
18	47918462	T	G	18	50392092	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.998876217761618	0.984
18	47918463	T	A	18	50392093	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.925826541430141	0.738
18	47918463	T	C	18	50392093	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00565927515480439	0.088
18	47918463	T	G	18	50392093	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.879704317122722	0.728
18	47918464	T	A	18	50392094	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.872245388299501	0.654
18	47918464	T	C	18	50392094	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00971971691131716	0.138
18	47918464	T	G	18	50392094	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.897091401722578	0.624
18	47918465	T	A	18	50392095	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.00157180301580903	0.038
18	47918465	T	C	18	50392095	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	2.29655049857335E-4	0.0
18	47918465	T	G	18	50392095	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	6.42840283167623E-4	0.018
18	47918466	T	A	18	50392096	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.0108860438768944	0.194
18	47918466	T	C	18	50392096	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	7.68614046027859E-5	0.002
18	47918466	T	G	18	50392096	y	y	intronic	SKA1	.	.	intronic	ENSG00000154839	.	.	0.990337681707648	0.714
18	47918467	A	C	18	50392097	y	y	splicing	SKA1(NM_145060:exon7:c.620-2A>C;NM_001039535:exon7:c.620-2A>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon7:c.620-2A>C;ENST00000398452:exon7:c.620-2A>C;ENST00000417656:exon6:c.482-2A>C;ENST00000488454:exon5:c.167-2A>C;ENST00000494518:exon6:c.212-2A>C)	.	.	0.999988247793601	0.928
18	47918467	A	G	18	50392097	y	y	splicing	SKA1(NM_145060:exon7:c.620-2A>G;NM_001039535:exon7:c.620-2A>G)	.	.	splicing	ENSG00000154839(ENST00000285116:exon7:c.620-2A>G;ENST00000398452:exon7:c.620-2A>G;ENST00000417656:exon6:c.482-2A>G;ENST00000488454:exon5:c.167-2A>G;ENST00000494518:exon6:c.212-2A>G)	.	.	0.999988247793601	0.928
18	47918467	A	T	18	50392097	y	y	splicing	SKA1(NM_145060:exon7:c.620-2A>T;NM_001039535:exon7:c.620-2A>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon7:c.620-2A>T;ENST00000398452:exon7:c.620-2A>T;ENST00000417656:exon6:c.482-2A>T;ENST00000488454:exon5:c.167-2A>T;ENST00000494518:exon6:c.212-2A>T)	.	.	0.999988247793601	0.93
18	47918468	G	A	18	50392098	y	y	splicing	SKA1(NM_145060:exon7:c.620-1G>A;NM_001039535:exon7:c.620-1G>A)	.	.	splicing	ENSG00000154839(ENST00000285116:exon7:c.620-1G>A;ENST00000398452:exon7:c.620-1G>A;ENST00000417656:exon6:c.482-1G>A;ENST00000488454:exon5:c.167-1G>A;ENST00000494518:exon6:c.212-1G>A)	.	.	0.999989072007339	0.934
18	47918468	G	C	18	50392098	y	y	splicing	SKA1(NM_145060:exon7:c.620-1G>C;NM_001039535:exon7:c.620-1G>C)	.	.	splicing	ENSG00000154839(ENST00000285116:exon7:c.620-1G>C;ENST00000398452:exon7:c.620-1G>C;ENST00000417656:exon6:c.482-1G>C;ENST00000488454:exon5:c.167-1G>C;ENST00000494518:exon6:c.212-1G>C)	.	.	0.999989072007339	0.934
18	47918468	G	T	18	50392098	y	y	splicing	SKA1(NM_145060:exon7:c.620-1G>T;NM_001039535:exon7:c.620-1G>T)	.	.	splicing	ENSG00000154839(ENST00000285116:exon7:c.620-1G>T;ENST00000398452:exon7:c.620-1G>T;ENST00000417656:exon6:c.482-1G>T;ENST00000488454:exon5:c.167-1G>T;ENST00000494518:exon6:c.212-1G>T)	.	.	0.999989072007339	0.934
18	47918469	G	A	18	50392099	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon7:c.G620A:p.G207D;SKA1:NM_001039535:exon7:c.G620A:p.G207D;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon7:c.G620A:p.G207D;ENSG00000154839:ENST00000494518:exon6:c.G212A:p.G71D;ENSG00000154839:ENST00000398452:exon7:c.G620A:p.G207D;ENSG00000154839:ENST00000417656:exon6:c.G482A:p.G161D;ENSG00000154839:ENST00000488454:exon5:c.G167A:p.G56D;	0.999139355906744	0.912
18	47918469	G	C	18	50392099	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon7:c.G620C:p.G207A;SKA1:NM_001039535:exon7:c.G620C:p.G207A;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon7:c.G620C:p.G207A;ENSG00000154839:ENST00000494518:exon6:c.G212C:p.G71A;ENSG00000154839:ENST00000398452:exon7:c.G620C:p.G207A;ENSG00000154839:ENST00000417656:exon6:c.G482C:p.G161A;ENSG00000154839:ENST00000488454:exon5:c.G167C:p.G56A;	0.999436846410992	0.97
18	47918469	G	T	18	50392099	y	y	exonic	SKA1	nonsynonymous SNV	SKA1:NM_145060:exon7:c.G620T:p.G207V;SKA1:NM_001039535:exon7:c.G620T:p.G207V;	exonic	ENSG00000154839	nonsynonymous SNV	ENSG00000154839:ENST00000285116:exon7:c.G620T:p.G207V;ENSG00000154839:ENST00000494518:exon6:c.G212T:p.G71V;ENSG00000154839:ENST00000398452:exon7:c.G620T:p.G207V;ENSG00000154839:ENST00000417656:exon6:c.G482T:p.G161V;ENSG00000154839:ENST00000488454:exon5:c.G167T:p.G56V;	0.999798210015883	0.994
18	47918470	T	A	18	50392100	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon7:c.T621A:p.G207G;SKA1:NM_001039535:exon7:c.T621A:p.G207G;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon7:c.T621A:p.G207G;ENSG00000154839:ENST00000494518:exon6:c.T213A:p.G71G;ENSG00000154839:ENST00000398452:exon7:c.T621A:p.G207G;ENSG00000154839:ENST00000417656:exon6:c.T483A:p.G161G;ENSG00000154839:ENST00000488454:exon5:c.T168A:p.G56G;	1.20318142800104E-4	0.006
18	47918470	T	C	18	50392100	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon7:c.T621C:p.G207G;SKA1:NM_001039535:exon7:c.T621C:p.G207G;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon7:c.T621C:p.G207G;ENSG00000154839:ENST00000494518:exon6:c.T213C:p.G71G;ENSG00000154839:ENST00000398452:exon7:c.T621C:p.G207G;ENSG00000154839:ENST00000417656:exon6:c.T483C:p.G161G;ENSG00000154839:ENST00000488454:exon5:c.T168C:p.G56G;	2.03614846015351E-4	0.024
18	47918470	T	G	18	50392100	y	y	exonic	SKA1	synonymous SNV	SKA1:NM_145060:exon7:c.T621G:p.G207G;SKA1:NM_001039535:exon7:c.T621G:p.G207G;	exonic	ENSG00000154839	synonymous SNV	ENSG00000154839:ENST00000285116:exon7:c.T621G:p.G207G;ENSG00000154839:ENST00000494518:exon6:c.T213G:p.G71G;ENSG00000154839:ENST00000398452:exon7:c.T621G:p.G207G;ENSG00000154839:ENST00000417656:exon6:c.T483G:p.G161G;ENSG00000154839:ENST00000488454:exon5:c.T168G:p.G56G;	2.08652290288133E-4	0.014
18	48086611	T	A	18	50560241	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	4.20002887350057E-5	0.004
18	48086611	T	C	18	50560241	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	3.06438710561646E-5	0.002
18	48086611	T	G	18	50560241	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	7.33749214615177E-5	0.018
18	48086612	C	A	18	50560242	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	1.58562778772475E-4	0.088
18	48086612	C	G	18	50560242	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	1.22003799516677E-4	0.004
18	48086612	C	T	18	50560242	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	1.58625602775059E-4	0.016
18	48086613	G	A	18	50560243	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	0.845635902836961	0.62
18	48086613	G	C	18	50560243	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	0.966773094099126	0.636
18	48086613	G	T	18	50560243	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	0.989089110719554	0.718
18	48086614	G	A	18	50560244	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.999265561801896	0.62
18	48086614	G	C	18	50560244	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.999265561801896	0.608
18	48086614	G	T	18	50560244	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.999265561801896	0.62
18	48086615	T	A	18	50560245	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.99998651018852	0.762
18	48086615	T	C	18	50560245	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.921936728420977	0.458
18	48086615	T	G	18	50560245	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.99998651018852	0.768
18	48086616	A	C	18	50560246	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.300218271021804	0.416
18	48086616	A	G	18	50560246	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.24770289378988E-4	0.022
18	48086616	A	T	18	50560246	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.13667562164848	0.388
18	48086617	A	C	18	50560247	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0411259794007451	0.328
18	48086617	A	G	18	50560247	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0812405056052817	0.42
18	48086617	A	T	18	50560247	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0676450690275821	0.418
18	48086618	G	A	18	50560248	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.996681117662189	0.706
18	48086618	G	C	18	50560248	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999779897462987	0.85
18	48086618	G	T	18	50560248	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.997071520997197	0.712
18	48086619	T	A	18	50560249	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0478993993241176	0.292
18	48086619	T	C	18	50560249	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.111560616065742	0.362
18	48086619	T	G	18	50560249	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0113512428978384	0.224
18	48086620	G	A	18	50560250	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.3994564522384E-5	0.004
18	48086620	G	C	18	50560250	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.01174165683835E-5	0.012
18	48086620	G	T	18	50560250	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.10346612926138E-5	0.004
18	48086621	G	A	18	50560251	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.03415818255323E-5	0.002
18	48086621	G	C	18	50560251	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.03415818255323E-5	0.004
18	48086621	G	T	18	50560251	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.03415818255323E-5	0.0
18	48087127	G	A	18	50560757	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	6.64677722929178E-5	0.002
18	48087127	G	C	18	50560757	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	8.88813965826561E-5	0.004
18	48087127	G	T	18	50560757	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	8.88813965826561E-5	0.022
18	48087128	C	A	18	50560758	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	7.04278140930798E-5	0.004
18	48087128	C	G	18	50560758	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	7.04278140930798E-5	0.006
18	48087128	C	T	18	50560758	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	7.04278140930798E-5	0.004
18	48087129	G	A	18	50560759	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	1.44101454748109E-4	0.026
18	48087129	G	C	18	50560759	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	1.07902708129146E-4	0.012
18	48087129	G	T	18	50560759	n	y	intronic	MAPK4	.	.	UTR5	ENSG00000141639	.	.	1.07902708129146E-4	0.014
18	48087130	G	A	18	50560760	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639	.	.	1.10853470952722E-4	0.014
18	48087130	G	C	18	50560760	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639	.	.	6.39826558468951E-5	0.014
18	48087130	G	T	18	50560760	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639	.	.	7.44495988577029E-5	0.014
18	48087131	T	A	18	50560761	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639	.	.	3.22978912786323E-4	0.002
18	48087131	T	C	18	50560761	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639	.	.	1.63843249138785E-4	0.0
18	48087131	T	G	18	50560761	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639	.	.	1.63843249138785E-4	0.0
18	48087132	A	C	18	50560762	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.48293208623238E-5	0.0
18	48087132	A	G	18	50560762	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.48293208623238E-5	0.0
18	48087132	A	T	18	50560762	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.07548002777155E-4	0.0
18	48087133	G	A	18	50560763	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.30945796578933E-5	0.0
18	48087133	G	C	18	50560763	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.30945796578933E-5	0.0
18	48087133	G	T	18	50560763	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.30945796578933E-5	0.0
18	48087134	G	A	18	50560764	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.30819145506541E-4	0.002
18	48087134	G	C	18	50560764	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.91285012458584E-4	0.004
18	48087134	G	T	18	50560764	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.91285012458584E-4	0.052
18	48087135	T	A	18	50560765	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.27230948637555E-5	0.01
18	48087135	T	C	18	50560765	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.51251131484881E-5	0.0
18	48087135	T	G	18	50560765	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.51251131484881E-5	0.0
18	48087136	A	C	18	50560766	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.55074715541114E-5	0.004
18	48087136	A	G	18	50560766	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.55074715541114E-5	0.0
18	48087136	A	T	18	50560766	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.78390947776483E-5	0.0
18	48087137	G	A	18	50560767	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.46226529156369E-4	0.004
18	48087137	G	C	18	50560767	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.50014361262222E-4	0.006
18	48087137	G	T	18	50560767	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.15928322694241E-4	0.002
18	48189447	T	A	18	50663077	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.99328356177321	0.868
18	48189447	T	C	18	50663077	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.069803317550224	0.398
18	48189447	T	G	18	50663077	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999923990565508	0.984
18	48189448	T	A	18	50663078	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.49349539302234	0.472
18	48189448	T	C	18	50663078	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00230852899707623	0.19
18	48189448	T	G	18	50663078	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.401921289585218	0.492
18	48189449	T	A	18	50663079	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.991715615043172	0.856
18	48189449	T	C	18	50663079	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0752139742828215	0.164
18	48189449	T	G	18	50663079	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.937550758996701	0.814
18	48189450	C	A	18	50663080	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0354202910238295	0.208
18	48189450	C	G	18	50663080	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0107392379372878	0.134
18	48189450	C	T	18	50663080	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00197530774390546	0.084
18	48189451	T	A	18	50663081	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0038127505436514	0.188
18	48189451	T	C	18	50663081	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.37636778396915E-5	0.004
18	48189451	T	G	18	50663081	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00103688181809899	0.122
18	48189452	T	A	18	50663082	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00237819607846868	0.078
18	48189452	T	C	18	50663082	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.08515391001444E-4	0.008
18	48189452	T	G	18	50663082	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00212317604840078	0.05
18	48189453	T	A	18	50663083	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999960315521031	0.97
18	48189453	T	C	18	50663083	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.5074483618679E-4	0.042
18	48189453	T	G	18	50663083	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0643530880490058	0.424
18	48189454	G	A	18	50663084	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00494263849676661	0.072
18	48189454	G	C	18	50663084	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00278901843368462	0.046
18	48189454	G	T	18	50663084	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.33070828237635E-4	0.046
18	48189455	A	C	18	50663085	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.03614442047632E-4	0.042
18	48189455	A	G	18	50663085	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.29865955697098E-4	0.002
18	48189455	A	T	18	50663085	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.69732770527943E-4	0.006
18	48189456	C	A	18	50663086	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.996956239817219	0.796
18	48189456	C	G	18	50663086	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999672362812689	0.944
18	48189456	C	T	18	50663086	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0254176798232711	0.182
18	48189457	A	C	18	50663087	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.99994568797423	0.944
18	48189457	A	G	18	50663087	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.99994568797423	0.944
18	48189457	A	T	18	50663087	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.999978952611685	0.944
18	48189458	G	A	18	50663088	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.999966737406901	0.944
18	48189458	G	C	18	50663088	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.999938422912956	0.934
18	48189458	G	T	18	50663088	y	y	splicing	MAPK4	.	.	splicing	ENSG00000141639	.	.	0.999938422912956	0.944
18	48189459	G	A	18	50663089	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	0.902401026416147	0.684
18	48189459	G	C	18	50663089	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	0.944855799572107	0.844
18	48189459	G	T	18	50663089	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	0.986168482396789	0.854
18	48189460	G	A	18	50663090	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	1.5329789654674E-4	0.016
18	48189460	G	C	18	50663090	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	1.45282757120733E-4	0.024
18	48189460	G	T	18	50663090	y	y	UTR5	MAPK4	.	.	UTR5	ENSG00000141639	.	.	3.25512433816061E-4	0.012
18	48190872	A	C	18	50664502	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon2:c.A544C:p.K182Q;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon2:c.A544C:p.K182Q;ENSG00000141639:ENST00000592595:exon2:c.A544C:p.K182Q;ENSG00000141639:ENST00000588540:exon2:c.A544C:p.K182Q;	0.78655597179717	0.462
18	48190872	A	G	18	50664502	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon2:c.A544G:p.K182E;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon2:c.A544G:p.K182E;ENSG00000141639:ENST00000592595:exon2:c.A544G:p.K182E;ENSG00000141639:ENST00000588540:exon2:c.A544G:p.K182E;	0.368199087550767	0.35
18	48190872	A	T	18	50664502	y	y	exonic	MAPK4	stopgain SNV	MAPK4:NM_002747:exon2:c.A544T:p.K182X;	exonic	ENSG00000141639	stopgain SNV	ENSG00000141639:ENST00000400384:exon2:c.A544T:p.K182X;ENSG00000141639:ENST00000592595:exon2:c.A544T:p.K182X;ENSG00000141639:ENST00000588540:exon2:c.A544T:p.K182X;	0.946927214734154	0.656
18	48190873	A	C	18	50664503	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon2:c.A545C:p.K182T;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon2:c.A545C:p.K182T;ENSG00000141639:ENST00000592595:exon2:c.A545C:p.K182T;ENSG00000141639:ENST00000588540:exon2:c.A545C:p.K182T;	0.847324280824485	0.704
18	48190873	A	G	18	50664503	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon2:c.A545G:p.K182R;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon2:c.A545G:p.K182R;ENSG00000141639:ENST00000592595:exon2:c.A545G:p.K182R;ENSG00000141639:ENST00000588540:exon2:c.A545G:p.K182R;	0.995975909118825	0.918
18	48190873	A	T	18	50664503	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon2:c.A545T:p.K182M;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon2:c.A545T:p.K182M;ENSG00000141639:ENST00000592595:exon2:c.A545T:p.K182M;ENSG00000141639:ENST00000588540:exon2:c.A545T:p.K182M;	0.995541427667674	0.874
18	48190874	G	A	18	50664504	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon2:c.G546A:p.K182K;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon2:c.G546A:p.K182K;ENSG00000141639:ENST00000592595:exon2:c.G546A:p.K182K;ENSG00000141639:ENST00000588540:exon2:c.G546A:p.K182K;	0.807875818955244	0.668
18	48190874	G	C	18	50664504	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon2:c.G546C:p.K182N;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon2:c.G546C:p.K182N;ENSG00000141639:ENST00000592595:exon2:c.G546C:p.K182N;ENSG00000141639:ENST00000588540:exon2:c.G546C:p.K182N;	0.998374931967992	0.916
18	48190874	G	T	18	50664504	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon2:c.G546T:p.K182N;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon2:c.G546T:p.K182N;ENSG00000141639:ENST00000592595:exon2:c.G546T:p.K182N;ENSG00000141639:ENST00000588540:exon2:c.G546T:p.K182N;	0.999277556688309	0.93
18	48190875	G	A	18	50664505	y	y	splicing	MAPK4(NM_002747:exon2:c.546+1G>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon2:c.546+1G>A;ENST00000592595:exon2:c.546+1G>A;ENST00000588540:exon2:c.546+1G>A)	.	.	0.999964821358849	0.872
18	48190875	G	C	18	50664505	y	y	splicing	MAPK4(NM_002747:exon2:c.546+1G>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon2:c.546+1G>C;ENST00000592595:exon2:c.546+1G>C;ENST00000588540:exon2:c.546+1G>C)	.	.	0.999934635464205	0.822
18	48190875	G	T	18	50664505	y	y	splicing	MAPK4(NM_002747:exon2:c.546+1G>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon2:c.546+1G>T;ENST00000592595:exon2:c.546+1G>T;ENST00000588540:exon2:c.546+1G>T)	.	.	0.999964821358849	0.862
18	48190876	T	A	18	50664506	y	y	splicing	MAPK4(NM_002747:exon2:c.546+2T>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon2:c.546+2T>A;ENST00000592595:exon2:c.546+2T>A;ENST00000588540:exon2:c.546+2T>A)	.	.	0.999946188727699	0.95
18	48190876	T	C	18	50664506	y	y	splicing	MAPK4(NM_002747:exon2:c.546+2T>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon2:c.546+2T>C;ENST00000592595:exon2:c.546+2T>C;ENST00000588540:exon2:c.546+2T>C)	.	.	0.953408765322961	0.652
18	48190876	T	G	18	50664506	y	y	splicing	MAPK4(NM_002747:exon2:c.546+2T>G)	.	.	splicing	ENSG00000141639(ENST00000400384:exon2:c.546+2T>G;ENST00000592595:exon2:c.546+2T>G;ENST00000588540:exon2:c.546+2T>G)	.	.	0.999946188727699	0.946
18	48190877	A	C	18	50664507	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.974779087476419	0.664
18	48190877	A	G	18	50664507	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.188271021356282	0.59
18	48190877	A	T	18	50664507	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.729909064251662	0.582
18	48190878	T	A	18	50664508	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.82912253957881E-5	0.018
18	48190878	T	C	18	50664508	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.57658877140355E-5	0.0
18	48190878	T	G	18	50664508	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.66003072380573E-5	0.0
18	48190879	G	A	18	50664509	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.772299790643551	0.39
18	48190879	G	C	18	50664509	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.682866808803417	0.432
18	48190879	G	T	18	50664509	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.77610679806502	0.406
18	48190880	T	A	18	50664510	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.83411999901819E-4	0.198
18	48190880	T	C	18	50664510	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.93291486375439E-4	0.228
18	48190880	T	G	18	50664510	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.41705003037536E-4	0.122
18	48190881	C	A	18	50664511	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.86817657573867E-5	0.004
18	48190881	C	G	18	50664511	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.34698575436269E-5	0.002
18	48190881	C	T	18	50664511	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.89889814691283E-5	0.002
18	48190882	T	A	18	50664512	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.11405113802176E-5	0.002
18	48190882	T	C	18	50664512	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.33099483629798E-6	0.012
18	48190882	T	G	18	50664512	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.11405113802176E-5	0.008
18	48230888	T	A	18	50704518	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.07620641825897E-5	0.0
18	48230888	T	C	18	50704518	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.07620641825897E-5	0.0
18	48230888	T	G	18	50704518	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.07620641825897E-5	0.0
18	48230889	A	C	18	50704519	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.08788427788342E-5	0.0
18	48230889	A	G	18	50704519	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.08788427788342E-5	0.0
18	48230889	A	T	18	50704519	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.1738525533333E-5	0.004
18	48230890	T	A	18	50704520	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.31929338280547E-5	0.006
18	48230890	T	C	18	50704520	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.31929338280547E-5	0.002
18	48230890	T	G	18	50704520	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.31929338280547E-5	0.002
18	48230891	T	A	18	50704521	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.62931229539123E-4	0.01
18	48230891	T	C	18	50704521	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.62931229539123E-4	0.006
18	48230891	T	G	18	50704521	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.62931229539123E-4	0.006
18	48230892	T	A	18	50704522	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.22788067510469E-5	0.0
18	48230892	T	C	18	50704522	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.22788067510469E-5	0.0
18	48230892	T	G	18	50704522	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.22788067510469E-5	0.0
18	48230893	C	A	18	50704523	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.15131662635767E-5	0.0
18	48230893	C	G	18	50704523	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.15131662635767E-5	0.0
18	48230893	C	T	18	50704523	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.15131662635767E-5	0.0
18	48230894	T	A	18	50704524	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.31929338280547E-5	0.004
18	48230894	T	C	18	50704524	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.31929338280547E-5	0.0
18	48230894	T	G	18	50704524	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.31929338280547E-5	0.0
18	48230895	C	A	18	50704525	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.3525528897954E-5	0.004
18	48230895	C	G	18	50704525	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.3525528897954E-5	0.008
18	48230895	C	T	18	50704525	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.3525528897954E-5	0.004
18	48230896	C	A	18	50704526	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.82827935381688E-5	0.004
18	48230896	C	G	18	50704526	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.82827935381688E-5	0.006
18	48230896	C	T	18	50704526	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.82827935381688E-5	0.004
18	48230897	T	A	18	50704527	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.68433810549259E-5	0.0
18	48230897	T	C	18	50704527	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.68433810549259E-5	0.0
18	48230897	T	G	18	50704527	n	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.68433810549259E-5	0.0
18	48230898	A	C	18	50704528	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639(ENST00000588540:exon3:c.547-2A>C)	.	.	6.26007143607885E-5	0.066
18	48230898	A	G	18	50704528	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639(ENST00000588540:exon3:c.547-2A>G)	.	.	6.26007143607885E-5	0.09
18	48230898	A	T	18	50704528	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639(ENST00000588540:exon3:c.547-2A>T)	.	.	4.68140984436469E-5	0.0
18	48230899	G	A	18	50704529	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639(ENST00000588540:exon3:c.547-1G>A)	.	.	2.09450276291873E-4	0.004
18	48230899	G	C	18	50704529	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639(ENST00000588540:exon3:c.547-1G>C)	.	.	2.09450276291873E-4	0.004
18	48230899	G	T	18	50704529	n	y	intronic	MAPK4	.	.	splicing	ENSG00000141639(ENST00000588540:exon3:c.547-1G>T)	.	.	2.09450276291873E-4	0.004
18	48230900	T	A	18	50704530	n	y	intronic	MAPK4	.	.	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000588540:exon3:c.T547A:p.S183T;	6.90866578596279E-5	0.0
18	48230900	T	C	18	50704530	n	y	intronic	MAPK4	.	.	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000588540:exon3:c.T547C:p.S183P;	3.80109675654916E-5	0.0
18	48230900	T	G	18	50704530	n	y	intronic	MAPK4	.	.	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000588540:exon3:c.T547G:p.S183A;	3.80109675654916E-5	0.0
18	48230901	C	A	18	50704531	n	y	intronic	MAPK4	.	.	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000588540:exon3:c.C548A:p.S183Y;	7.3525528897954E-5	0.002
18	48230901	C	G	18	50704531	n	y	intronic	MAPK4	.	.	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000588540:exon3:c.C548G:p.S183C;	7.3525528897954E-5	0.002
18	48230901	C	T	18	50704531	n	y	intronic	MAPK4	.	.	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000588540:exon3:c.C548T:p.S183F;	7.3525528897954E-5	0.002
18	48241437	T	A	18	50715067	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.238242235889143	0.564
18	48241437	T	C	18	50715067	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00135161248409581	0.008
18	48241437	T	G	18	50715067	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.166267330892	0.502
18	48241438	T	A	18	50715068	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.967720071452866	0.656
18	48241438	T	C	18	50715068	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00352442294099494	0.104
18	48241438	T	G	18	50715068	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.69635452729533	0.506
18	48241439	T	A	18	50715069	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999852670043267	0.964
18	48241439	T	C	18	50715069	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00129377423533172	0.128
18	48241439	T	G	18	50715069	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.517250190733205	0.546
18	48241440	G	A	18	50715070	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.7203182462054E-4	0.008
18	48241440	G	C	18	50715070	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.16266445041662E-4	0.0
18	48241440	G	T	18	50715070	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.54901910554682E-4	0.002
18	48241441	T	A	18	50715071	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.80707237458034	0.454
18	48241441	T	C	18	50715071	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00121388549371004	0.044
18	48241441	T	G	18	50715071	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.275272593686689	0.468
18	48241442	C	A	18	50715072	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.17549332237757E-4	0.124
18	48241442	C	G	18	50715072	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.41988584906704E-4	0.038
18	48241442	C	T	18	50715072	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.59059278721536E-5	0.0
18	48241443	T	A	18	50715073	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.830662724627897	0.594
18	48241443	T	C	18	50715073	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.53668505853541E-4	0.07
18	48241443	T	G	18	50715073	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.921539779894374	0.68
18	48241444	T	A	18	50715074	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.931904272848571	0.552
18	48241444	T	C	18	50715074	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0247183096933769	0.158
18	48241444	T	G	18	50715074	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.965020605589364	0.642
18	48241445	T	A	18	50715075	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	6.15020986123408E-5	0.01
18	48241445	T	C	18	50715075	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.09999357830359E-5	0.0
18	48241445	T	G	18	50715075	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.11269486496599E-4	0.004
18	48241446	C	A	18	50715076	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.473420352521301	0.488
18	48241446	C	G	18	50715076	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999689724266132	0.91
18	48241446	C	T	18	50715076	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.29891850946438E-4	0.028
18	48241447	A	C	18	50715077	y	y	splicing	MAPK4(NM_002747:exon3:c.547-2A>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.547-2A>C;ENST00000592595:exon3:c.547-2A>C)	.	.	0.999989917668626	0.928
18	48241447	A	G	18	50715077	y	y	splicing	MAPK4(NM_002747:exon3:c.547-2A>G)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.547-2A>G;ENST00000592595:exon3:c.547-2A>G)	.	.	0.999989917668626	0.928
18	48241447	A	T	18	50715077	y	y	splicing	MAPK4(NM_002747:exon3:c.547-2A>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.547-2A>T;ENST00000592595:exon3:c.547-2A>T)	.	.	0.999989917668626	0.928
18	48241448	G	A	18	50715078	y	y	splicing	MAPK4(NM_002747:exon3:c.547-1G>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.547-1G>A;ENST00000592595:exon3:c.547-1G>A)	.	.	0.999986675681007	0.934
18	48241448	G	C	18	50715078	y	y	splicing	MAPK4(NM_002747:exon3:c.547-1G>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.547-1G>C;ENST00000592595:exon3:c.547-1G>C)	.	.	0.999986675681007	0.934
18	48241448	G	T	18	50715078	y	y	splicing	MAPK4(NM_002747:exon3:c.547-1G>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.547-1G>T;ENST00000592595:exon3:c.547-1G>T)	.	.	0.999986675681007	0.934
18	48241449	G	A	18	50715079	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G547A:p.G183S;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G547A:p.G183S;ENSG00000141639:ENST00000592595:exon3:c.G547A:p.G183S;	0.998996200435094	0.926
18	48241449	G	C	18	50715079	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G547C:p.G183R;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G547C:p.G183R;ENSG00000141639:ENST00000592595:exon3:c.G547C:p.G183R;	0.999821712962379	0.974
18	48241449	G	T	18	50715079	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G547T:p.G183C;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G547T:p.G183C;ENSG00000141639:ENST00000592595:exon3:c.G547T:p.G183C;	0.999824078203908	0.964
18	48241450	G	A	18	50715080	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G548A:p.G183D;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G548A:p.G183D;ENSG00000141639:ENST00000592595:exon3:c.G548A:p.G183D;	0.974953463718301	0.886
18	48241450	G	C	18	50715080	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G548C:p.G183A;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G548C:p.G183A;ENSG00000141639:ENST00000592595:exon3:c.G548C:p.G183A;	0.974408466188867	0.838
18	48241450	G	T	18	50715080	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G548T:p.G183V;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G548T:p.G183V;ENSG00000141639:ENST00000592595:exon3:c.G548T:p.G183V;	0.977042625807717	0.86
18	48241591	C	A	18	50715221	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.C689A:p.A230D;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.C689A:p.A230D;ENSG00000141639:ENST00000592595:exon3:c.C689A:p.A230D;ENSG00000141639:ENST00000540640:exon2:c.C56A:p.A19D;	0.77698212992582	0.756
18	48241591	C	G	18	50715221	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.C689G:p.A230G;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.C689G:p.A230G;ENSG00000141639:ENST00000592595:exon3:c.C689G:p.A230G;ENSG00000141639:ENST00000540640:exon2:c.C56G:p.A19G;	0.618681571048546	0.602
18	48241591	C	T	18	50715221	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.C689T:p.A230V;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.C689T:p.A230V;ENSG00000141639:ENST00000592595:exon3:c.C689T:p.A230V;ENSG00000141639:ENST00000540640:exon2:c.C56T:p.A19V;	0.995891333341275	0.784
18	48241592	T	A	18	50715222	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon3:c.T690A:p.A230A;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.T690A:p.A230A;ENSG00000141639:ENST00000592595:exon3:c.T690A:p.A230A;ENSG00000141639:ENST00000540640:exon2:c.T57A:p.A19A;	8.32316731231278E-5	0.19
18	48241592	T	C	18	50715222	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon3:c.T690C:p.A230A;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.T690C:p.A230A;ENSG00000141639:ENST00000592595:exon3:c.T690C:p.A230A;ENSG00000141639:ENST00000540640:exon2:c.T57C:p.A19A;	1.29531429032816E-4	0.028
18	48241592	T	G	18	50715222	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon3:c.T690G:p.A230A;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.T690G:p.A230A;ENSG00000141639:ENST00000592595:exon3:c.T690G:p.A230A;ENSG00000141639:ENST00000540640:exon2:c.T57G:p.A19A;	8.56045522092297E-4	0.064
18	48241593	G	A	18	50715223	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G691A:p.G231R;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G691A:p.G231R;ENSG00000141639:ENST00000592595:exon3:c.G691A:p.G231S;ENSG00000141639:ENST00000540640:exon2:c.G58A:p.G20R;	0.99994823755858	0.982
18	48241593	G	C	18	50715223	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G691C:p.G231R;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G691C:p.G231R;ENSG00000141639:ENST00000592595:exon3:c.G691C:p.G231R;ENSG00000141639:ENST00000540640:exon2:c.G58C:p.G20R;	0.999987831122845	0.952
18	48241593	G	T	18	50715223	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon3:c.G691T:p.G231W;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon3:c.G691T:p.G231W;ENSG00000141639:ENST00000592595:exon3:c.G691T:p.G231C;ENSG00000141639:ENST00000540640:exon2:c.G58T:p.G20W;	0.999921648871591	0.978
18	48241594	G	A	18	50715224	y	y	splicing	MAPK4(NM_002747:exon3:c.691+1G>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.691+1G>A;ENST00000540640:exon2:c.58+1G>A;ENST00000592595:exon3:c.691+1G>A)	.	.	0.999986675681007	0.93
18	48241594	G	C	18	50715224	y	y	splicing	MAPK4(NM_002747:exon3:c.691+1G>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.691+1G>C;ENST00000540640:exon2:c.58+1G>C;ENST00000592595:exon3:c.691+1G>C)	.	.	0.999986675681007	0.93
18	48241594	G	T	18	50715224	y	y	splicing	MAPK4(NM_002747:exon3:c.691+1G>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.691+1G>T;ENST00000540640:exon2:c.58+1G>T;ENST00000592595:exon3:c.691+1G>T)	.	.	0.999986675681007	0.93
18	48241595	T	A	18	50715225	y	y	splicing	MAPK4(NM_002747:exon3:c.691+2T>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.691+2T>A;ENST00000540640:exon2:c.58+2T>A;ENST00000592595:exon3:c.691+2T>A)	.	.	0.999989917668626	0.926
18	48241595	T	C	18	50715225	y	y	splicing	MAPK4(NM_002747:exon3:c.691+2T>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.691+2T>C;ENST00000540640:exon2:c.58+2T>C;ENST00000592595:exon3:c.691+2T>C)	.	.	0.999935529631333	0.862
18	48241595	T	G	18	50715225	y	y	splicing	MAPK4(NM_002747:exon3:c.691+2T>G)	.	.	splicing	ENSG00000141639(ENST00000400384:exon3:c.691+2T>G;ENST00000540640:exon2:c.58+2T>G;ENST00000592595:exon3:c.691+2T>G)	.	.	0.999989917668626	0.926
18	48241596	G	A	18	50715226	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.130962552639E-5	0.006
18	48241596	G	C	18	50715226	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.498357981383843	0.464
18	48241596	G	T	18	50715226	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.290597589977957	0.424
18	48241597	A	C	18	50715227	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.554617039644068	0.43
18	48241597	A	G	18	50715227	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.954482834979868	0.706
18	48241597	A	T	18	50715227	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.9746780111015	0.662
18	48241598	G	A	18	50715228	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999794696225631	0.942
18	48241598	G	C	18	50715228	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999952526874488	0.892
18	48241598	G	T	18	50715228	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999806113608786	0.93
18	48241599	T	A	18	50715229	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.240630602366373	0.45
18	48241599	T	C	18	50715229	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.248867614352212	0.406
18	48241599	T	G	18	50715229	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0336942942496992	0.194
18	48241600	T	A	18	50715230	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.61023618589722E-4	0.012
18	48241600	T	C	18	50715230	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.40762183897444E-4	0.006
18	48241600	T	G	18	50715230	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.58143985448613E-4	0.0
18	48241601	G	A	18	50715231	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.4308351127115E-5	0.0
18	48241601	G	C	18	50715231	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.4308351127115E-5	0.0
18	48241601	G	T	18	50715231	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.4308351127115E-5	0.0
18	48248296	T	A	18	50721926	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0652853424926958	0.28
18	48248296	T	C	18	50721926	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.68598421518078E-4	0.006
18	48248296	T	G	18	50721926	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999871353885991	0.936
18	48248297	T	A	18	50721927	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999916231497777	0.972
18	48248297	T	C	18	50721927	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00137416882071755	0.082
18	48248297	T	G	18	50721927	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.860508769250191	0.44
18	48248298	G	A	18	50721928	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.03176709567977E-4	0.012
18	48248298	G	C	18	50721928	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.77384320066705E-6	0.008
18	48248298	G	T	18	50721928	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.89507337863236E-6	0.0
18	48248299	C	A	18	50721929	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00202136036336563	0.03
18	48248299	C	G	18	50721929	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0010180190397414	0.022
18	48248299	C	T	18	50721929	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.38011623165935E-5	0.0
18	48248300	C	A	18	50721930	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	6.97032555699768E-4	0.058
18	48248300	C	G	18	50721930	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.88240975503891E-4	0.078
18	48248300	C	T	18	50721930	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.4904642810284E-5	0.002
18	48248301	T	A	18	50721931	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.124385437460479	0.414
18	48248301	T	C	18	50721931	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.26218838067232E-5	0.006
18	48248301	T	G	18	50721931	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0903969366061307	0.288
18	48248302	C	A	18	50721932	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00671232608685094	0.17
18	48248302	C	G	18	50721932	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0122963946002066	0.172
18	48248302	C	T	18	50721932	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.58189881725955E-5	0.008
18	48248303	C	A	18	50721933	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00412221308405255	0.064
18	48248303	C	G	18	50721933	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0205341274673611	0.088
18	48248303	C	T	18	50721933	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.2851030354357E-4	0.0
18	48248304	C	A	18	50721934	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.40923155720452E-5	0.01
18	48248304	C	G	18	50721934	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.3964654730064E-4	0.0
18	48248304	C	T	18	50721934	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.50311426277604E-4	0.006
18	48248305	C	A	18	50721935	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999132776660301	0.91
18	48248305	C	G	18	50721935	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999823779215337	0.952
18	48248305	C	T	18	50721935	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0715084712590568	0.194
18	48248306	A	C	18	50721936	y	y	splicing	MAPK4(NM_002747:exon4:c.692-2A>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.692-2A>C;ENST00000540640:exon3:c.59-2A>C)	.	.	0.999988247793601	0.928
18	48248306	A	G	18	50721936	y	y	splicing	MAPK4(NM_002747:exon4:c.692-2A>G)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.692-2A>G;ENST00000540640:exon3:c.59-2A>G)	.	.	0.999988247793601	0.928
18	48248306	A	T	18	50721936	y	y	splicing	MAPK4(NM_002747:exon4:c.692-2A>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.692-2A>T;ENST00000540640:exon3:c.59-2A>T)	.	.	0.999988247793601	0.928
18	48248307	G	A	18	50721937	y	y	splicing	MAPK4(NM_002747:exon4:c.692-1G>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.692-1G>A;ENST00000540640:exon3:c.59-1G>A)	.	.	0.999986675681007	0.934
18	48248307	G	C	18	50721937	y	y	splicing	MAPK4(NM_002747:exon4:c.692-1G>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.692-1G>C;ENST00000540640:exon3:c.59-1G>C)	.	.	0.999986675681007	0.934
18	48248307	G	T	18	50721937	y	y	splicing	MAPK4(NM_002747:exon4:c.692-1G>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.692-1G>T;ENST00000540640:exon3:c.59-1G>T)	.	.	0.999986675681007	0.934
18	48248308	G	A	18	50721938	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.G692A:p.G231E;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G692A:p.G231E;ENSG00000141639:ENST00000540640:exon3:c.G59A:p.G20E;	0.998579967349047	0.954
18	48248308	G	C	18	50721938	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.G692C:p.G231A;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G692C:p.G231A;ENSG00000141639:ENST00000540640:exon3:c.G59C:p.G20A;	0.999749814395498	0.97
18	48248308	G	T	18	50721938	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.G692T:p.G231V;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G692T:p.G231V;ENSG00000141639:ENST00000540640:exon3:c.G59T:p.G20V;	0.999789631850346	0.976
18	48248309	G	A	18	50721939	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon4:c.G693A:p.G231G;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G693A:p.G231G;ENSG00000141639:ENST00000540640:exon3:c.G60A:p.G20G;	1.81961278404516E-4	0.008
18	48248309	G	C	18	50721939	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon4:c.G693C:p.G231G;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G693C:p.G231G;ENSG00000141639:ENST00000540640:exon3:c.G60C:p.G20G;	2.45508226507042E-4	0.002
18	48248309	G	T	18	50721939	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon4:c.G693T:p.G231G;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G693T:p.G231G;ENSG00000141639:ENST00000540640:exon3:c.G60T:p.G20G;	2.15505565772557E-4	0.004
18	48248467	A	C	18	50722097	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.A851C:p.E284A;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.A851C:p.E284A;ENSG00000141639:ENST00000540640:exon3:c.A218C:p.E73A;	0.571584613657368	0.43
18	48248467	A	G	18	50722097	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.A851G:p.E284G;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.A851G:p.E284G;ENSG00000141639:ENST00000540640:exon3:c.A218G:p.E73G;	0.183133499192499	0.372
18	48248467	A	T	18	50722097	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.A851T:p.E284V;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.A851T:p.E284V;ENSG00000141639:ENST00000540640:exon3:c.A218T:p.E73V;	0.995859865490851	0.722
18	48248468	A	C	18	50722098	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.A852C:p.E284D;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.A852C:p.E284D;ENSG00000141639:ENST00000540640:exon3:c.A219C:p.E73D;	0.976475752685333	0.864
18	48248468	A	G	18	50722098	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon4:c.A852G:p.E284E;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.A852G:p.E284E;ENSG00000141639:ENST00000540640:exon3:c.A219G:p.E73E;	0.993678849601019	0.81
18	48248468	A	T	18	50722098	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.A852T:p.E284D;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.A852T:p.E284D;ENSG00000141639:ENST00000540640:exon3:c.A219T:p.E73D;	0.998084595399781	0.978
18	48248469	G	A	18	50722099	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.G853A:p.A285T;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G853A:p.A285T;ENSG00000141639:ENST00000540640:exon3:c.G220A:p.A74T;	0.999997072378493	1.0
18	48248469	G	C	18	50722099	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.G853C:p.A285P;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G853C:p.A285P;ENSG00000141639:ENST00000540640:exon3:c.G220C:p.A74P;	0.999992967438588	0.992
18	48248469	G	T	18	50722099	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon4:c.G853T:p.A285S;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon4:c.G853T:p.A285S;ENSG00000141639:ENST00000540640:exon3:c.G220T:p.A74S;	0.999939576272294	1.0
18	48248470	G	A	18	50722100	y	y	splicing	MAPK4(NM_002747:exon4:c.853+1G>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.853+1G>A;ENST00000540640:exon3:c.220+1G>A)	.	.	0.999986675681007	0.934
18	48248470	G	C	18	50722100	y	y	splicing	MAPK4(NM_002747:exon4:c.853+1G>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.853+1G>C;ENST00000540640:exon3:c.220+1G>C)	.	.	0.999986675681007	0.934
18	48248470	G	T	18	50722100	y	y	splicing	MAPK4(NM_002747:exon4:c.853+1G>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.853+1G>T;ENST00000540640:exon3:c.220+1G>T)	.	.	0.999986675681007	0.934
18	48248471	T	A	18	50722101	y	y	splicing	MAPK4(NM_002747:exon4:c.853+2T>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.853+2T>A;ENST00000540640:exon3:c.220+2T>A)	.	.	0.999989917668626	0.926
18	48248471	T	C	18	50722101	y	y	splicing	MAPK4(NM_002747:exon4:c.853+2T>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.853+2T>C;ENST00000540640:exon3:c.220+2T>C)	.	.	0.985266808656705	0.604
18	48248471	T	G	18	50722101	y	y	splicing	MAPK4(NM_002747:exon4:c.853+2T>G)	.	.	splicing	ENSG00000141639(ENST00000400384:exon4:c.853+2T>G;ENST00000540640:exon3:c.220+2T>G)	.	.	0.999989917668626	0.926
18	48248472	A	C	18	50722102	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999854786982706	0.942
18	48248472	A	G	18	50722102	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999000091674519	0.944
18	48248472	A	T	18	50722102	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999932920446793	0.994
18	48248473	C	A	18	50722103	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.72626794797111E-5	0.032
18	48248473	C	G	18	50722103	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.46252343411813E-4	0.068
18	48248473	C	T	18	50722103	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.97961900076924E-4	0.088
18	48248474	C	A	18	50722104	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00141011107113535	0.084
18	48248474	C	G	18	50722104	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.11299179478307E-4	0.032
18	48248474	C	T	18	50722104	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0026744886961773	0.04
18	48248475	T	A	18	50722105	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00655173605062066	0.164
18	48248475	T	C	18	50722105	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00663867499226814	0.254
18	48248475	T	G	18	50722105	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00120378196137574	0.27
18	48248476	G	A	18	50722106	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.19133810306788E-4	0.018
18	48248476	G	C	18	50722106	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.19133810306788E-4	0.004
18	48248476	G	T	18	50722106	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.54064048518761E-4	0.006
18	48248477	A	C	18	50722107	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.63227226025522E-5	0.0
18	48248477	A	G	18	50722107	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.2419295136403E-4	0.004
18	48248477	A	T	18	50722107	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.63227226025522E-5	0.0
18	48252320	T	A	18	50725950	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999849714962294	0.976
18	48252320	T	C	18	50725950	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.67686759510424E-4	0.04
18	48252320	T	G	18	50725950	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.7730472065567E-4	0.076
18	48252321	G	A	18	50725951	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	6.22306466392082E-4	0.154
18	48252321	G	C	18	50725951	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.47070192602407E-5	0.008
18	48252321	G	T	18	50725951	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.02141852221052E-4	0.004
18	48252322	C	A	18	50725952	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00447370789155795	0.044
18	48252322	C	G	18	50725952	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00647047242610409	0.07
18	48252322	C	T	18	50725952	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.64570453511012E-4	0.0
18	48252323	T	A	18	50725953	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00287306638695232	0.162
18	48252323	T	C	18	50725953	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.91870675603037E-4	0.094
18	48252323	T	G	18	50725953	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00118665491961552	0.094
18	48252324	C	A	18	50725954	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00173757633278507	0.124
18	48252324	C	G	18	50725954	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00126126195573142	0.056
18	48252324	C	T	18	50725954	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.76448495943125E-5	0.006
18	48252325	C	A	18	50725955	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00708306978236255	0.08
18	48252325	C	G	18	50725955	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0119138121464441	0.084
18	48252325	C	T	18	50725955	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.17076437805984E-5	0.002
18	48252326	C	A	18	50725956	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00157930346156385	0.19
18	48252326	C	G	18	50725956	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00475309061991096	0.132
18	48252326	C	T	18	50725956	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.46827989419859E-4	0.004
18	48252327	T	A	18	50725957	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.997249498498653	0.916
18	48252327	T	C	18	50725957	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.89532648986512E-5	0.02
18	48252327	T	G	18	50725957	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	7.18532660876088E-4	0.14
18	48252328	G	A	18	50725958	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.1747795312636E-5	0.0
18	48252328	G	C	18	50725958	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.99046776070359E-5	0.03
18	48252328	G	T	18	50725958	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.79690047988321E-5	0.002
18	48252329	C	A	18	50725959	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.925141916192867	0.59
18	48252329	C	G	18	50725959	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999515228662821	0.918
18	48252329	C	T	18	50725959	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00150440139151181	0.166
18	48252330	A	C	18	50725960	y	y	splicing	MAPK4(NM_002747:exon5:c.854-2A>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.854-2A>C;ENST00000540640:exon4:c.221-2A>C)	.	.	0.999992263738125	0.934
18	48252330	A	G	18	50725960	y	y	splicing	MAPK4(NM_002747:exon5:c.854-2A>G)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.854-2A>G;ENST00000540640:exon4:c.221-2A>G)	.	.	0.999992263738125	0.934
18	48252330	A	T	18	50725960	y	y	splicing	MAPK4(NM_002747:exon5:c.854-2A>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.854-2A>T;ENST00000540640:exon4:c.221-2A>T)	.	.	0.999992263738125	0.934
18	48252331	G	A	18	50725961	y	y	splicing	MAPK4(NM_002747:exon5:c.854-1G>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.854-1G>A;ENST00000540640:exon4:c.221-1G>A)	.	.	0.999989528922238	0.946
18	48252331	G	C	18	50725961	y	y	splicing	MAPK4(NM_002747:exon5:c.854-1G>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.854-1G>C;ENST00000540640:exon4:c.221-1G>C)	.	.	0.999989528922238	0.946
18	48252331	G	T	18	50725961	y	y	splicing	MAPK4(NM_002747:exon5:c.854-1G>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.854-1G>T;ENST00000540640:exon4:c.221-1G>T)	.	.	0.999989528922238	0.946
18	48252332	C	A	18	50725962	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon5:c.C854A:p.A285D;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C854A:p.A285D;ENSG00000141639:ENST00000540640:exon4:c.C221A:p.A74D;	0.845036062781759	0.742
18	48252332	C	G	18	50725962	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon5:c.C854G:p.A285G;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C854G:p.A285G;ENSG00000141639:ENST00000540640:exon4:c.C221G:p.A74G;	0.836580594054277	0.634
18	48252332	C	T	18	50725962	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon5:c.C854T:p.A285V;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C854T:p.A285V;ENSG00000141639:ENST00000540640:exon4:c.C221T:p.A74V;	0.985714487174739	0.932
18	48252333	C	A	18	50725963	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon5:c.C855A:p.A285A;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C855A:p.A285A;ENSG00000141639:ENST00000540640:exon4:c.C222A:p.A74A;	0.0102918762498804	0.036
18	48252333	C	G	18	50725963	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon5:c.C855G:p.A285A;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C855G:p.A285A;ENSG00000141639:ENST00000540640:exon4:c.C222G:p.A74A;	0.00592747600327112	0.026
18	48252333	C	T	18	50725963	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon5:c.C855T:p.A285A;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C855T:p.A285A;ENSG00000141639:ENST00000540640:exon4:c.C222T:p.A74A;	0.00251497755662667	0.036
18	48252543	C	A	18	50726173	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon5:c.C1065A:p.S355S;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C1065A:p.S355S;ENSG00000141639:ENST00000540640:exon4:c.C432A:p.S144S;	0.00156517947987684	0.11
18	48252543	C	G	18	50726173	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon5:c.C1065G:p.S355S;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C1065G:p.S355S;ENSG00000141639:ENST00000540640:exon4:c.C432G:p.S144S;	0.286843552256461	0.394
18	48252543	C	T	18	50726173	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon5:c.C1065T:p.S355S;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.C1065T:p.S355S;ENSG00000141639:ENST00000540640:exon4:c.C432T:p.S144S;	0.994117390252132	0.764
18	48252544	A	C	18	50726174	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon5:c.A1066C:p.R356R;	exonic	ENSG00000141639	synonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.A1066C:p.R356R;ENSG00000141639:ENST00000540640:exon4:c.A433C:p.R145R;	0.998433657873965	0.768
18	48252544	A	G	18	50726174	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon5:c.A1066G:p.R356G;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.A1066G:p.R356G;ENSG00000141639:ENST00000540640:exon4:c.A433G:p.R145G;	0.999864327416913	0.804
18	48252544	A	T	18	50726174	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon5:c.A1066T:p.R356W;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.A1066T:p.R356W;ENSG00000141639:ENST00000540640:exon4:c.A433T:p.R145W;	0.9999081527127	0.812
18	48252545	G	A	18	50726175	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon5:c.G1067A:p.R356K;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.G1067A:p.R356K;ENSG00000141639:ENST00000540640:exon4:c.G434A:p.R145K;	0.999999080540518	0.87
18	48252545	G	C	18	50726175	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon5:c.G1067C:p.R356T;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.G1067C:p.R356T;ENSG00000141639:ENST00000540640:exon4:c.G434C:p.R145T;	0.999993161604037	0.862
18	48252545	G	T	18	50726175	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon5:c.G1067T:p.R356M;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon5:c.G1067T:p.R356M;ENSG00000141639:ENST00000540640:exon4:c.G434T:p.R145M;	0.999992799203461	0.854
18	48252546	G	A	18	50726176	y	y	splicing	MAPK4(NM_002747:exon5:c.1067+1G>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.1067+1G>A;ENST00000540640:exon4:c.434+1G>A)	.	.	0.999897425193236	0.684
18	48252546	G	C	18	50726176	y	y	splicing	MAPK4(NM_002747:exon5:c.1067+1G>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.1067+1G>C;ENST00000540640:exon4:c.434+1G>C)	.	.	0.999897425193236	0.668
18	48252546	G	T	18	50726176	y	y	splicing	MAPK4(NM_002747:exon5:c.1067+1G>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.1067+1G>T;ENST00000540640:exon4:c.434+1G>T)	.	.	0.999897425193236	0.674
18	48252547	T	A	18	50726177	y	y	splicing	MAPK4(NM_002747:exon5:c.1067+2T>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.1067+2T>A;ENST00000540640:exon4:c.434+2T>A)	.	.	0.999088180063789	0.51
18	48252547	T	C	18	50726177	y	y	splicing	MAPK4(NM_002747:exon5:c.1067+2T>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.1067+2T>C;ENST00000540640:exon4:c.434+2T>C)	.	.	0.9968398204728	0.498
18	48252547	T	G	18	50726177	y	y	splicing	MAPK4(NM_002747:exon5:c.1067+2T>G)	.	.	splicing	ENSG00000141639(ENST00000400384:exon5:c.1067+2T>G;ENST00000540640:exon4:c.434+2T>G)	.	.	0.999088180063789	0.5
18	48252548	G	A	18	50726178	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.90563293810915E-6	0.06
18	48252548	G	C	18	50726178	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.698755168863435	0.604
18	48252548	G	T	18	50726178	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.680710676742007	0.61
18	48252549	C	A	18	50726179	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.36168816556313E-4	0.14
18	48252549	C	G	18	50726179	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0480190206402575	0.166
18	48252549	C	T	18	50726179	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0448429315040305	0.156
18	48252550	T	A	18	50726180	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.04500708732724E-4	0.008
18	48252550	T	C	18	50726180	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.56789478009139E-4	0.096
18	48252550	T	G	18	50726180	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.92863229705238E-4	0.1
18	48252551	C	A	18	50726181	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	8.19845426326753E-5	0.05
18	48252551	C	G	18	50726181	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.07450643438004E-5	0.004
18	48252551	C	T	18	50726181	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.12045736040035E-5	0.004
18	48252552	G	A	18	50726182	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.96323034491673E-5	0.0
18	48252552	G	C	18	50726182	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.99769738680469E-5	0.0
18	48252552	G	T	18	50726182	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00109931483094238	0.038
18	48252553	C	A	18	50726183	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.4733530601579E-4	0.002
18	48252553	C	G	18	50726183	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.4733530601579E-4	0.0
18	48252553	C	T	18	50726183	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.95305163318817E-4	0.006
18	48255516	G	A	18	50729146	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.61506840355898E-5	0.002
18	48255516	G	C	18	50729146	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.02209670553935E-5	0.0
18	48255516	G	T	18	50729146	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.87775398454816E-5	0.0
18	48255517	T	A	18	50729147	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.103759278351176	0.444
18	48255517	T	C	18	50729147	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.06140915479133E-4	0.092
18	48255517	T	G	18	50729147	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0736597392413477	0.386
18	48255518	A	C	18	50729148	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.03708676203334E-5	0.072
18	48255518	A	G	18	50729148	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.18946986468951E-5	0.062
18	48255518	A	T	18	50729148	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.29749779661056E-5	0.024
18	48255519	C	A	18	50729149	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.87799694663959E-4	0.04
18	48255519	C	G	18	50729149	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.988806689716127	0.978
18	48255519	C	T	18	50729149	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.61472055860681E-5	0.006
18	48255520	C	A	18	50729150	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	6.85051651901217E-4	0.056
18	48255520	C	G	18	50729150	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	3.31065871547631E-4	0.042
18	48255520	C	T	18	50729150	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.74273347318363E-5	0.016
18	48255521	C	A	18	50729151	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.17917687898896E-4	0.026
18	48255521	C	G	18	50729151	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	9.13609385589853E-5	0.008
18	48255521	C	T	18	50729151	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	2.04061775790241E-5	0.022
18	48255522	T	A	18	50729152	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00742606584566174	0.114
18	48255522	T	C	18	50729152	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.34052259767888E-5	0.0
18	48255522	T	G	18	50729152	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00584372472831325	0.14
18	48255523	T	A	18	50729153	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.966779795299958	0.864
18	48255523	T	C	18	50729153	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	6.40936472159803E-5	0.0
18	48255523	T	G	18	50729153	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.0552529356258033	0.27
18	48255524	G	A	18	50729154	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	4.66487716641265E-4	0.008
18	48255524	G	C	18	50729154	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	1.25847442098392E-4	0.004
18	48255524	G	T	18	50729154	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	5.01425434258823E-4	0.012
18	48255525	C	A	18	50729155	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.620290918123319	0.532
18	48255525	C	G	18	50729155	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.999879037285834	0.968
18	48255525	C	T	18	50729155	y	y	intronic	MAPK4	.	.	intronic	ENSG00000141639	.	.	0.00166864763499617	0.098
18	48255526	A	C	18	50729156	y	y	splicing	MAPK4(NM_002747:exon6:c.1068-2A>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon6:c.1068-2A>C;ENST00000540640:exon5:c.435-2A>C;ENST00000592595:exon4:c.692-2A>C)	.	.	0.999978952611685	0.926
18	48255526	A	G	18	50729156	y	y	splicing	MAPK4(NM_002747:exon6:c.1068-2A>G)	.	.	splicing	ENSG00000141639(ENST00000400384:exon6:c.1068-2A>G;ENST00000540640:exon5:c.435-2A>G;ENST00000592595:exon4:c.692-2A>G)	.	.	0.999978952611685	0.926
18	48255526	A	T	18	50729156	y	y	splicing	MAPK4(NM_002747:exon6:c.1068-2A>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon6:c.1068-2A>T;ENST00000540640:exon5:c.435-2A>T;ENST00000592595:exon4:c.692-2A>T)	.	.	0.999988247793601	0.924
18	48255527	G	A	18	50729157	y	y	splicing	MAPK4(NM_002747:exon6:c.1068-1G>A)	.	.	splicing	ENSG00000141639(ENST00000400384:exon6:c.1068-1G>A;ENST00000540640:exon5:c.435-1G>A;ENST00000592595:exon4:c.692-1G>A)	.	.	0.999986675681007	0.932
18	48255527	G	C	18	50729157	y	y	splicing	MAPK4(NM_002747:exon6:c.1068-1G>C)	.	.	splicing	ENSG00000141639(ENST00000400384:exon6:c.1068-1G>C;ENST00000540640:exon5:c.435-1G>C;ENST00000592595:exon4:c.692-1G>C)	.	.	0.999986675681007	0.932
18	48255527	G	T	18	50729157	y	y	splicing	MAPK4(NM_002747:exon6:c.1068-1G>T)	.	.	splicing	ENSG00000141639(ENST00000400384:exon6:c.1068-1G>T;ENST00000540640:exon5:c.435-1G>T;ENST00000592595:exon4:c.692-1G>T)	.	.	0.999986675681007	0.932
18	48255528	G	A	18	50729158	y	y	exonic	MAPK4	synonymous SNV	MAPK4:NM_002747:exon6:c.G1068A:p.R356R;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000592595:exon4:c.G692A:p.G231D;	0.193710016741374	0.33
18	48255528	G	C	18	50729158	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon6:c.G1068C:p.R356S;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon6:c.G1068C:p.R356S;ENSG00000141639:ENST00000592595:exon4:c.G692C:p.G231A;ENSG00000141639:ENST00000540640:exon5:c.G435C:p.R145S;	0.981588977959607	0.802
18	48255528	G	T	18	50729158	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon6:c.G1068T:p.R356S;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon6:c.G1068T:p.R356S;ENSG00000141639:ENST00000592595:exon4:c.G692T:p.G231V;ENSG00000141639:ENST00000540640:exon5:c.G435T:p.R145S;	0.99250018817324	0.912
18	48255529	T	A	18	50729159	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon6:c.T1069A:p.Y357N;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon6:c.T1069A:p.Y357N;ENSG00000141639:ENST00000540640:exon5:c.T436A:p.Y146N;	0.472948626031704	0.316
18	48255529	T	C	18	50729159	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon6:c.T1069C:p.Y357H;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon6:c.T1069C:p.Y357H;ENSG00000141639:ENST00000540640:exon5:c.T436C:p.Y146H;	0.33335516052686	0.352
18	48255529	T	G	18	50729159	y	y	exonic	MAPK4	nonsynonymous SNV	MAPK4:NM_002747:exon6:c.T1069G:p.Y357D;	exonic	ENSG00000141639	nonsynonymous SNV	ENSG00000141639:ENST00000400384:exon6:c.T1069G:p.Y357D;ENSG00000141639:ENST00000540640:exon5:c.T436G:p.Y146D;	0.38494414007645	0.318
18	48325759	C	A	18	50799389	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon7:c.G737T:p.S246I;MRO:NM_001127175:exon6:c.G581T:p.S194I;MRO:NM_001127174:exon6:c.G539T:p.S180I;MRO:NM_031939:exon8:c.G695T:p.S232I;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon6:c.G581T:p.S194I;ENSG00000134042:ENST00000436348:exon7:c.G737T:p.S246I;ENSG00000134042:ENST00000256425:exon8:c.G695T:p.S232I;ENSG00000134042:ENST00000398439:exon8:c.G695T:p.S232I;ENSG00000134042:ENST00000428869:exon9:c.G695T:p.S232I;ENSG00000134042:ENST00000588444:exon6:c.G539T:p.S180I;	0.00662440364414039	0.086
18	48325759	C	G	18	50799389	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon7:c.G737C:p.S246T;MRO:NM_001127175:exon6:c.G581C:p.S194T;MRO:NM_001127174:exon6:c.G539C:p.S180T;MRO:NM_031939:exon8:c.G695C:p.S232T;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon6:c.G581C:p.S194T;ENSG00000134042:ENST00000436348:exon7:c.G737C:p.S246T;ENSG00000134042:ENST00000256425:exon8:c.G695C:p.S232T;ENSG00000134042:ENST00000398439:exon8:c.G695C:p.S232T;ENSG00000134042:ENST00000428869:exon9:c.G695C:p.S232T;ENSG00000134042:ENST00000588444:exon6:c.G539C:p.S180T;	0.975267058973232	0.81
18	48325759	C	T	18	50799389	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon7:c.G737A:p.S246N;MRO:NM_001127175:exon6:c.G581A:p.S194N;MRO:NM_001127174:exon6:c.G539A:p.S180N;MRO:NM_031939:exon8:c.G695A:p.S232N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon6:c.G581A:p.S194N;ENSG00000134042:ENST00000436348:exon7:c.G737A:p.S246N;ENSG00000134042:ENST00000256425:exon8:c.G695A:p.S232N;ENSG00000134042:ENST00000398439:exon8:c.G695A:p.S232N;ENSG00000134042:ENST00000428869:exon9:c.G695A:p.S232N;ENSG00000134042:ENST00000588444:exon6:c.G539A:p.S180N;	0.987537036657531	0.748
18	48325760	T	A	18	50799390	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon7:c.A736T:p.S246C;MRO:NM_001127175:exon6:c.A580T:p.S194C;MRO:NM_001127174:exon6:c.A538T:p.S180C;MRO:NM_031939:exon8:c.A694T:p.S232C;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon6:c.A580T:p.S194C;ENSG00000134042:ENST00000436348:exon7:c.A736T:p.S246C;ENSG00000134042:ENST00000256425:exon8:c.A694T:p.S232C;ENSG00000134042:ENST00000398439:exon8:c.A694T:p.S232C;ENSG00000134042:ENST00000428869:exon9:c.A694T:p.S232C;ENSG00000134042:ENST00000588444:exon6:c.A538T:p.S180C;	0.858555482176284	0.544
18	48325760	T	C	18	50799390	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon7:c.A736G:p.S246G;MRO:NM_001127175:exon6:c.A580G:p.S194G;MRO:NM_001127174:exon6:c.A538G:p.S180G;MRO:NM_031939:exon8:c.A694G:p.S232G;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon6:c.A580G:p.S194G;ENSG00000134042:ENST00000436348:exon7:c.A736G:p.S246G;ENSG00000134042:ENST00000256425:exon8:c.A694G:p.S232G;ENSG00000134042:ENST00000398439:exon8:c.A694G:p.S232G;ENSG00000134042:ENST00000428869:exon9:c.A694G:p.S232G;ENSG00000134042:ENST00000588444:exon6:c.A538G:p.S180G;	0.711917589403803	0.588
18	48325760	T	G	18	50799390	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon7:c.A736C:p.S246R;MRO:NM_001127175:exon6:c.A580C:p.S194R;MRO:NM_001127174:exon6:c.A538C:p.S180R;MRO:NM_031939:exon8:c.A694C:p.S232R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon6:c.A580C:p.S194R;ENSG00000134042:ENST00000436348:exon7:c.A736C:p.S246R;ENSG00000134042:ENST00000256425:exon8:c.A694C:p.S232R;ENSG00000134042:ENST00000398439:exon8:c.A694C:p.S232R;ENSG00000134042:ENST00000428869:exon9:c.A694C:p.S232R;ENSG00000134042:ENST00000588444:exon6:c.A538C:p.S180R;	0.820895657948587	0.542
18	48325761	C	A	18	50799391	y	y	splicing	MRO(NM_031939:exon9:c.694-1G>T;NM_001127176:exon8:c.736-1G>T;NM_001127175:exon7:c.580-1G>T;NM_001127174:exon7:c.538-1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon9:c.839-1G>T;ENST00000428869:exon10:c.694-1G>T;ENST00000431965:exon7:c.580-1G>T;ENST00000256425:exon9:c.694-1G>T;ENST00000588444:exon7:c.538-1G>T;ENST00000436348:exon8:c.736-1G>T;ENST00000398439:exon9:c.694-1G>T)	.	.	0.999976475802857	0.908
18	48325761	C	G	18	50799391	y	y	splicing	MRO(NM_031939:exon9:c.694-1G>C;NM_001127176:exon8:c.736-1G>C;NM_001127175:exon7:c.580-1G>C;NM_001127174:exon7:c.538-1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon9:c.839-1G>C;ENST00000428869:exon10:c.694-1G>C;ENST00000431965:exon7:c.580-1G>C;ENST00000256425:exon9:c.694-1G>C;ENST00000588444:exon7:c.538-1G>C;ENST00000436348:exon8:c.736-1G>C;ENST00000398439:exon9:c.694-1G>C)	.	.	0.999976475802857	0.906
18	48325761	C	T	18	50799391	y	y	splicing	MRO(NM_031939:exon9:c.694-1G>A;NM_001127176:exon8:c.736-1G>A;NM_001127175:exon7:c.580-1G>A;NM_001127174:exon7:c.538-1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon9:c.839-1G>A;ENST00000428869:exon10:c.694-1G>A;ENST00000431965:exon7:c.580-1G>A;ENST00000256425:exon9:c.694-1G>A;ENST00000588444:exon7:c.538-1G>A;ENST00000436348:exon8:c.736-1G>A;ENST00000398439:exon9:c.694-1G>A)	.	.	0.999976475802857	0.908
18	48325762	T	A	18	50799392	y	y	splicing	MRO(NM_031939:exon9:c.694-2A>T;NM_001127176:exon8:c.736-2A>T;NM_001127175:exon7:c.580-2A>T;NM_001127174:exon7:c.538-2A>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon9:c.839-2A>T;ENST00000428869:exon10:c.694-2A>T;ENST00000431965:exon7:c.580-2A>T;ENST00000256425:exon9:c.694-2A>T;ENST00000588444:exon7:c.538-2A>T;ENST00000436348:exon8:c.736-2A>T;ENST00000398439:exon9:c.694-2A>T)	.	.	0.999971317418422	0.898
18	48325762	T	C	18	50799392	y	y	splicing	MRO(NM_031939:exon9:c.694-2A>G;NM_001127176:exon8:c.736-2A>G;NM_001127175:exon7:c.580-2A>G;NM_001127174:exon7:c.538-2A>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon9:c.839-2A>G;ENST00000428869:exon10:c.694-2A>G;ENST00000431965:exon7:c.580-2A>G;ENST00000256425:exon9:c.694-2A>G;ENST00000588444:exon7:c.538-2A>G;ENST00000436348:exon8:c.736-2A>G;ENST00000398439:exon9:c.694-2A>G)	.	.	0.999971317418422	0.89
18	48325762	T	G	18	50799392	y	y	splicing	MRO(NM_031939:exon9:c.694-2A>C;NM_001127176:exon8:c.736-2A>C;NM_001127175:exon7:c.580-2A>C;NM_001127174:exon7:c.538-2A>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon9:c.839-2A>C;ENST00000428869:exon10:c.694-2A>C;ENST00000431965:exon7:c.580-2A>C;ENST00000256425:exon9:c.694-2A>C;ENST00000588444:exon7:c.538-2A>C;ENST00000436348:exon8:c.736-2A>C;ENST00000398439:exon9:c.694-2A>C)	.	.	0.999971317418422	0.892
18	48325763	G	A	18	50799393	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0415422322695973	0.188
18	48325763	G	C	18	50799393	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999769827581787	0.94
18	48325763	G	T	18	50799393	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999633878207012	0.824
18	48325764	A	C	18	50799394	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.78838416588423E-4	0.072
18	48325764	A	G	18	50799394	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.53667603404753E-4	0.004
18	48325764	A	T	18	50799394	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.18788356153336E-4	0.01
18	48325765	A	C	18	50799395	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.982721704889322	0.586
18	48325765	A	G	18	50799395	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0317138711407645	0.208
18	48325765	A	T	18	50799395	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.663218809189086	0.508
18	48325766	A	C	18	50799396	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.929213153176328	0.624
18	48325766	A	G	18	50799396	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00117738648310225	0.088
18	48325766	A	T	18	50799396	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.771721147711082	0.504
18	48325767	G	A	18	50799397	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.46832776954579E-5	0.0
18	48325767	G	C	18	50799397	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	4.72456904638137E-4	0.072
18	48325767	G	T	18	50799397	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00138817064685504	0.022
18	48325768	A	C	18	50799398	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0381924904905642	0.182
18	48325768	A	G	18	50799398	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.00177878681902E-5	0.004
18	48325768	A	T	18	50799398	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0289776823250772	0.202
18	48325769	A	C	18	50799399	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00707235360161261	0.262
18	48325769	A	G	18	50799399	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.06620953403307E-4	0.004
18	48325769	A	T	18	50799399	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.016986084124764	0.288
18	48325770	A	C	18	50799400	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999958938898216	0.974
18	48325770	A	G	18	50799400	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00441470468179068	0.124
18	48325770	A	T	18	50799400	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.399555466840906	0.51
18	48325771	T	A	18	50799401	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.80707466490021E-5	0.074
18	48325771	T	C	18	50799401	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.94111559192598	0.932
18	48325771	T	G	18	50799401	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.02803075264185E-6	0.0
18	48325772	T	A	18	50799402	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.46142773558949E-5	0.002
18	48325772	T	C	18	50799402	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.90556481020161E-5	0.006
18	48325772	T	G	18	50799402	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.02739642619877E-6	0.0
18	48326398	T	A	18	50800028	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.09390388637758E-4	0.008
18	48326398	T	C	18	50800028	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.05089433122438E-4	0.01
18	48326398	T	G	18	50800028	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.39862461359493E-4	0.01
18	48326399	C	A	18	50800029	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00239046888237996	0.052
18	48326399	C	G	18	50800029	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00861322308364889	0.058
18	48326399	C	T	18	50800029	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00782017606288489	0.044
18	48326400	A	C	18	50800030	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.113276899643504	0.306
18	48326400	A	G	18	50800030	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.208776288448934	0.516
18	48326400	A	T	18	50800030	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.420396844868069	0.61
18	48326401	C	A	18	50800031	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999912026623758	0.912
18	48326401	C	G	18	50800031	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999958361478828	0.934
18	48326401	C	T	18	50800031	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999912026623758	0.918
18	48326402	T	A	18	50800032	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.992946084672994	0.804
18	48326402	T	C	18	50800032	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.991411601511083	0.812
18	48326402	T	G	18	50800032	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.9735270851955	0.614
18	48326403	C	A	18	50800033	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.989261154577413	0.906
18	48326403	C	G	18	50800033	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.998220310127948	0.908
18	48326403	C	T	18	50800033	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00812172556504416	0.158
18	48326404	A	C	18	50800034	y	y	splicing	MRO(NM_031939:exon8:c.693+2T>G;NM_001127176:exon7:c.735+2T>G;NM_001127175:exon6:c.579+2T>G;NM_001127174:exon6:c.537+2T>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.838+2T>G;ENST00000428869:exon9:c.693+2T>G;ENST00000431965:exon6:c.579+2T>G;ENST00000256425:exon8:c.693+2T>G;ENST00000588444:exon6:c.537+2T>G;ENST00000436348:exon7:c.735+2T>G;ENST00000398439:exon8:c.693+2T>G)	.	.	0.999988247793601	0.932
18	48326404	A	G	18	50800034	y	y	splicing	MRO(NM_031939:exon8:c.693+2T>C;NM_001127176:exon7:c.735+2T>C;NM_001127175:exon6:c.579+2T>C;NM_001127174:exon6:c.537+2T>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.838+2T>C;ENST00000428869:exon9:c.693+2T>C;ENST00000431965:exon6:c.579+2T>C;ENST00000256425:exon8:c.693+2T>C;ENST00000588444:exon6:c.537+2T>C;ENST00000436348:exon7:c.735+2T>C;ENST00000398439:exon8:c.693+2T>C)	.	.	0.999929727175276	0.87
18	48326404	A	T	18	50800034	y	y	splicing	MRO(NM_031939:exon8:c.693+2T>A;NM_001127176:exon7:c.735+2T>A;NM_001127175:exon6:c.579+2T>A;NM_001127174:exon6:c.537+2T>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.838+2T>A;ENST00000428869:exon9:c.693+2T>A;ENST00000431965:exon6:c.579+2T>A;ENST00000256425:exon8:c.693+2T>A;ENST00000588444:exon6:c.537+2T>A;ENST00000436348:exon7:c.735+2T>A;ENST00000398439:exon8:c.693+2T>A)	.	.	0.999988247793601	0.932
18	48326405	C	A	18	50800035	y	y	splicing	MRO(NM_031939:exon8:c.693+1G>T;NM_001127176:exon7:c.735+1G>T;NM_001127175:exon6:c.579+1G>T;NM_001127174:exon6:c.537+1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.838+1G>T;ENST00000428869:exon9:c.693+1G>T;ENST00000431965:exon6:c.579+1G>T;ENST00000256425:exon8:c.693+1G>T;ENST00000588444:exon6:c.537+1G>T;ENST00000436348:exon7:c.735+1G>T;ENST00000398439:exon8:c.693+1G>T)	.	.	0.999990361384395	0.938
18	48326405	C	G	18	50800035	y	y	splicing	MRO(NM_031939:exon8:c.693+1G>C;NM_001127176:exon7:c.735+1G>C;NM_001127175:exon6:c.579+1G>C;NM_001127174:exon6:c.537+1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.838+1G>C;ENST00000428869:exon9:c.693+1G>C;ENST00000431965:exon6:c.579+1G>C;ENST00000256425:exon8:c.693+1G>C;ENST00000588444:exon6:c.537+1G>C;ENST00000436348:exon7:c.735+1G>C;ENST00000398439:exon8:c.693+1G>C)	.	.	0.999990361384395	0.938
18	48326405	C	T	18	50800035	y	y	splicing	MRO(NM_031939:exon8:c.693+1G>A;NM_001127176:exon7:c.735+1G>A;NM_001127175:exon6:c.579+1G>A;NM_001127174:exon6:c.537+1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.838+1G>A;ENST00000428869:exon9:c.693+1G>A;ENST00000431965:exon6:c.579+1G>A;ENST00000256425:exon8:c.693+1G>A;ENST00000588444:exon6:c.537+1G>A;ENST00000436348:exon7:c.735+1G>A;ENST00000398439:exon8:c.693+1G>A)	.	.	0.999990361384395	0.938
18	48326406	C	A	18	50800036	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon6:c.G735T:p.L245L;MRO:NM_001127175:exon5:c.G579T:p.L193L;MRO:NM_001127174:exon5:c.G537T:p.L179L;MRO:NM_031939:exon7:c.G693T:p.L231L;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.G579T:p.L193L;ENSG00000134042:ENST00000436348:exon6:c.G735T:p.L245L;ENSG00000134042:ENST00000256425:exon7:c.G693T:p.L231L;ENSG00000134042:ENST00000398439:exon7:c.G693T:p.L231L;ENSG00000134042:ENST00000428869:exon8:c.G693T:p.L231L;ENSG00000134042:ENST00000588444:exon5:c.G537T:p.L179L;ENSG00000134042:ENST00000592966:exon5:c.G537T:p.L179L;	0.999889923406858	0.926
18	48326406	C	G	18	50800036	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon6:c.G735C:p.L245L;MRO:NM_001127175:exon5:c.G579C:p.L193L;MRO:NM_001127174:exon5:c.G537C:p.L179L;MRO:NM_031939:exon7:c.G693C:p.L231L;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.G579C:p.L193L;ENSG00000134042:ENST00000436348:exon6:c.G735C:p.L245L;ENSG00000134042:ENST00000256425:exon7:c.G693C:p.L231L;ENSG00000134042:ENST00000398439:exon7:c.G693C:p.L231L;ENSG00000134042:ENST00000428869:exon8:c.G693C:p.L231L;ENSG00000134042:ENST00000588444:exon5:c.G537C:p.L179L;ENSG00000134042:ENST00000592966:exon5:c.G537C:p.L179L;	0.999945901639034	0.866
18	48326406	C	T	18	50800036	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon6:c.G735A:p.L245L;MRO:NM_001127175:exon5:c.G579A:p.L193L;MRO:NM_001127174:exon5:c.G537A:p.L179L;MRO:NM_031939:exon7:c.G693A:p.L231L;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.G579A:p.L193L;ENSG00000134042:ENST00000436348:exon6:c.G735A:p.L245L;ENSG00000134042:ENST00000256425:exon7:c.G693A:p.L231L;ENSG00000134042:ENST00000398439:exon7:c.G693A:p.L231L;ENSG00000134042:ENST00000428869:exon8:c.G693A:p.L231L;ENSG00000134042:ENST00000588444:exon5:c.G537A:p.L179L;ENSG00000134042:ENST00000592966:exon5:c.G537A:p.L179L;	0.99992014360946	0.992
18	48326407	A	C	18	50800037	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.T734G:p.L245R;MRO:NM_001127175:exon5:c.T578G:p.L193R;MRO:NM_001127174:exon5:c.T536G:p.L179R;MRO:NM_031939:exon7:c.T692G:p.L231R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.T578G:p.L193R;ENSG00000134042:ENST00000436348:exon6:c.T734G:p.L245R;ENSG00000134042:ENST00000256425:exon7:c.T692G:p.L231R;ENSG00000134042:ENST00000398439:exon7:c.T692G:p.L231R;ENSG00000134042:ENST00000428869:exon8:c.T692G:p.L231R;ENSG00000134042:ENST00000588444:exon5:c.T536G:p.L179R;ENSG00000134042:ENST00000592966:exon5:c.T536G:p.L179R;	0.977075812257722	0.912
18	48326407	A	G	18	50800037	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.T734C:p.L245P;MRO:NM_001127175:exon5:c.T578C:p.L193P;MRO:NM_001127174:exon5:c.T536C:p.L179P;MRO:NM_031939:exon7:c.T692C:p.L231P;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.T578C:p.L193P;ENSG00000134042:ENST00000436348:exon6:c.T734C:p.L245P;ENSG00000134042:ENST00000256425:exon7:c.T692C:p.L231P;ENSG00000134042:ENST00000398439:exon7:c.T692C:p.L231P;ENSG00000134042:ENST00000428869:exon8:c.T692C:p.L231P;ENSG00000134042:ENST00000588444:exon5:c.T536C:p.L179P;ENSG00000134042:ENST00000592966:exon5:c.T536C:p.L179P;	0.979782587938429	0.904
18	48326407	A	T	18	50800037	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.T734A:p.L245Q;MRO:NM_001127175:exon5:c.T578A:p.L193Q;MRO:NM_001127174:exon5:c.T536A:p.L179Q;MRO:NM_031939:exon7:c.T692A:p.L231Q;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.T578A:p.L193Q;ENSG00000134042:ENST00000436348:exon6:c.T734A:p.L245Q;ENSG00000134042:ENST00000256425:exon7:c.T692A:p.L231Q;ENSG00000134042:ENST00000398439:exon7:c.T692A:p.L231Q;ENSG00000134042:ENST00000428869:exon8:c.T692A:p.L231Q;ENSG00000134042:ENST00000588444:exon5:c.T536A:p.L179Q;ENSG00000134042:ENST00000592966:exon5:c.T536A:p.L179Q;	0.789786889113982	0.674
18	48326408	G	A	18	50800038	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon6:c.C733T:p.L245L;MRO:NM_001127175:exon5:c.C577T:p.L193L;MRO:NM_001127174:exon5:c.C535T:p.L179L;MRO:NM_031939:exon7:c.C691T:p.L231L;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.C577T:p.L193L;ENSG00000134042:ENST00000436348:exon6:c.C733T:p.L245L;ENSG00000134042:ENST00000256425:exon7:c.C691T:p.L231L;ENSG00000134042:ENST00000398439:exon7:c.C691T:p.L231L;ENSG00000134042:ENST00000428869:exon8:c.C691T:p.L231L;ENSG00000134042:ENST00000588444:exon5:c.C535T:p.L179L;ENSG00000134042:ENST00000592966:exon5:c.C535T:p.L179L;	0.109978716302478	0.316
18	48326408	G	C	18	50800038	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.C733G:p.L245V;MRO:NM_001127175:exon5:c.C577G:p.L193V;MRO:NM_001127174:exon5:c.C535G:p.L179V;MRO:NM_031939:exon7:c.C691G:p.L231V;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.C577G:p.L193V;ENSG00000134042:ENST00000436348:exon6:c.C733G:p.L245V;ENSG00000134042:ENST00000256425:exon7:c.C691G:p.L231V;ENSG00000134042:ENST00000398439:exon7:c.C691G:p.L231V;ENSG00000134042:ENST00000428869:exon8:c.C691G:p.L231V;ENSG00000134042:ENST00000588444:exon5:c.C535G:p.L179V;ENSG00000134042:ENST00000592966:exon5:c.C535G:p.L179V;	0.0583204090312986	0.324
18	48326408	G	T	18	50800038	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.C733A:p.L245M;MRO:NM_001127175:exon5:c.C577A:p.L193M;MRO:NM_001127174:exon5:c.C535A:p.L179M;MRO:NM_031939:exon7:c.C691A:p.L231M;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.C577A:p.L193M;ENSG00000134042:ENST00000436348:exon6:c.C733A:p.L245M;ENSG00000134042:ENST00000256425:exon7:c.C691A:p.L231M;ENSG00000134042:ENST00000398439:exon7:c.C691A:p.L231M;ENSG00000134042:ENST00000428869:exon8:c.C691A:p.L231M;ENSG00000134042:ENST00000588444:exon5:c.C535A:p.L179M;ENSG00000134042:ENST00000592966:exon5:c.C535A:p.L179M;	0.271106601090702	0.528
18	48326512	G	A	18	50800142	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.C629T:p.A210V;MRO:NM_001127175:exon5:c.C473T:p.A158V;MRO:NM_001127174:exon5:c.C431T:p.A144V;MRO:NM_031939:exon7:c.C587T:p.A196V;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.C473T:p.A158V;ENSG00000134042:ENST00000436348:exon6:c.C629T:p.A210V;ENSG00000134042:ENST00000256425:exon7:c.C587T:p.A196V;ENSG00000134042:ENST00000398439:exon7:c.C587T:p.A196V;ENSG00000134042:ENST00000428869:exon8:c.C587T:p.A196V;ENSG00000134042:ENST00000588444:exon5:c.C431T:p.A144V;ENSG00000134042:ENST00000592966:exon5:c.C431T:p.A144V;	0.980363082597339	0.818
18	48326512	G	C	18	50800142	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.C629G:p.A210G;MRO:NM_001127175:exon5:c.C473G:p.A158G;MRO:NM_001127174:exon5:c.C431G:p.A144G;MRO:NM_031939:exon7:c.C587G:p.A196G;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.C473G:p.A158G;ENSG00000134042:ENST00000436348:exon6:c.C629G:p.A210G;ENSG00000134042:ENST00000256425:exon7:c.C587G:p.A196G;ENSG00000134042:ENST00000398439:exon7:c.C587G:p.A196G;ENSG00000134042:ENST00000428869:exon8:c.C587G:p.A196G;ENSG00000134042:ENST00000588444:exon5:c.C431G:p.A144G;ENSG00000134042:ENST00000592966:exon5:c.C431G:p.A144G;	0.520917495951989	0.588
18	48326512	G	T	18	50800142	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.C629A:p.A210D;MRO:NM_001127175:exon5:c.C473A:p.A158D;MRO:NM_001127174:exon5:c.C431A:p.A144D;MRO:NM_031939:exon7:c.C587A:p.A196D;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.C473A:p.A158D;ENSG00000134042:ENST00000436348:exon6:c.C629A:p.A210D;ENSG00000134042:ENST00000256425:exon7:c.C587A:p.A196D;ENSG00000134042:ENST00000398439:exon7:c.C587A:p.A196D;ENSG00000134042:ENST00000428869:exon8:c.C587A:p.A196D;ENSG00000134042:ENST00000588444:exon5:c.C431A:p.A144D;ENSG00000134042:ENST00000592966:exon5:c.C431A:p.A144D;	0.987876499849719	0.856
18	48326513	C	A	18	50800143	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.G628T:p.A210S;MRO:NM_001127175:exon5:c.G472T:p.A158S;MRO:NM_001127174:exon5:c.G430T:p.A144S;MRO:NM_031939:exon7:c.G586T:p.A196S;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.G472T:p.A158S;ENSG00000134042:ENST00000436348:exon6:c.G628T:p.A210S;ENSG00000134042:ENST00000256425:exon7:c.G586T:p.A196S;ENSG00000134042:ENST00000398439:exon7:c.G586T:p.A196S;ENSG00000134042:ENST00000428869:exon8:c.G586T:p.A196S;ENSG00000134042:ENST00000588444:exon5:c.G430T:p.A144S;ENSG00000134042:ENST00000592966:exon5:c.G430T:p.A144S;	0.999860249963584	0.992
18	48326513	C	G	18	50800143	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.G628C:p.A210P;MRO:NM_001127175:exon5:c.G472C:p.A158P;MRO:NM_001127174:exon5:c.G430C:p.A144P;MRO:NM_031939:exon7:c.G586C:p.A196P;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.G472C:p.A158P;ENSG00000134042:ENST00000436348:exon6:c.G628C:p.A210P;ENSG00000134042:ENST00000256425:exon7:c.G586C:p.A196P;ENSG00000134042:ENST00000398439:exon7:c.G586C:p.A196P;ENSG00000134042:ENST00000428869:exon8:c.G586C:p.A196P;ENSG00000134042:ENST00000588444:exon5:c.G430C:p.A144P;ENSG00000134042:ENST00000592966:exon5:c.G430C:p.A144P;	0.999898009224405	0.98
18	48326513	C	T	18	50800143	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon6:c.G628A:p.A210T;MRO:NM_001127175:exon5:c.G472A:p.A158T;MRO:NM_001127174:exon5:c.G430A:p.A144T;MRO:NM_031939:exon7:c.G586A:p.A196T;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon5:c.G472A:p.A158T;ENSG00000134042:ENST00000436348:exon6:c.G628A:p.A210T;ENSG00000134042:ENST00000256425:exon7:c.G586A:p.A196T;ENSG00000134042:ENST00000398439:exon7:c.G586A:p.A196T;ENSG00000134042:ENST00000428869:exon8:c.G586A:p.A196T;ENSG00000134042:ENST00000588444:exon5:c.G430A:p.A144T;ENSG00000134042:ENST00000592966:exon5:c.G430A:p.A144T;	0.999106383627717	0.824
18	48326514	C	A	18	50800144	y	y	splicing	MRO(NM_031939:exon8:c.586-1G>T;NM_001127176:exon7:c.628-1G>T;NM_001127175:exon6:c.472-1G>T;NM_001127174:exon6:c.430-1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.731-1G>T;ENST00000428869:exon9:c.586-1G>T;ENST00000431965:exon6:c.472-1G>T;ENST00000256425:exon8:c.586-1G>T;ENST00000588444:exon6:c.430-1G>T;ENST00000436348:exon7:c.628-1G>T;ENST00000398439:exon8:c.586-1G>T;ENST00000592966:exon6:c.430-1G>T;ENST00000590988:exon6:c.366-1G>T)	.	.	0.999985532734767	0.936
18	48326514	C	G	18	50800144	y	y	splicing	MRO(NM_031939:exon8:c.586-1G>C;NM_001127176:exon7:c.628-1G>C;NM_001127175:exon6:c.472-1G>C;NM_001127174:exon6:c.430-1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.731-1G>C;ENST00000428869:exon9:c.586-1G>C;ENST00000431965:exon6:c.472-1G>C;ENST00000256425:exon8:c.586-1G>C;ENST00000588444:exon6:c.430-1G>C;ENST00000436348:exon7:c.628-1G>C;ENST00000398439:exon8:c.586-1G>C;ENST00000592966:exon6:c.430-1G>C;ENST00000590988:exon6:c.366-1G>C)	.	.	0.999974090184857	0.934
18	48326514	C	T	18	50800144	y	y	splicing	MRO(NM_031939:exon8:c.586-1G>A;NM_001127176:exon7:c.628-1G>A;NM_001127175:exon6:c.472-1G>A;NM_001127174:exon6:c.430-1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.731-1G>A;ENST00000428869:exon9:c.586-1G>A;ENST00000431965:exon6:c.472-1G>A;ENST00000256425:exon8:c.586-1G>A;ENST00000588444:exon6:c.430-1G>A;ENST00000436348:exon7:c.628-1G>A;ENST00000398439:exon8:c.586-1G>A;ENST00000592966:exon6:c.430-1G>A;ENST00000590988:exon6:c.366-1G>A)	.	.	0.999985532734767	0.936
18	48326515	T	A	18	50800145	y	y	splicing	MRO(NM_031939:exon8:c.586-2A>T;NM_001127176:exon7:c.628-2A>T;NM_001127175:exon6:c.472-2A>T;NM_001127174:exon6:c.430-2A>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.731-2A>T;ENST00000428869:exon9:c.586-2A>T;ENST00000431965:exon6:c.472-2A>T;ENST00000256425:exon8:c.586-2A>T;ENST00000588444:exon6:c.430-2A>T;ENST00000436348:exon7:c.628-2A>T;ENST00000398439:exon8:c.586-2A>T;ENST00000592966:exon6:c.430-2A>T;ENST00000590988:exon6:c.366-2A>T)	.	.	0.999988247793601	0.924
18	48326515	T	C	18	50800145	y	y	splicing	MRO(NM_031939:exon8:c.586-2A>G;NM_001127176:exon7:c.628-2A>G;NM_001127175:exon6:c.472-2A>G;NM_001127174:exon6:c.430-2A>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.731-2A>G;ENST00000428869:exon9:c.586-2A>G;ENST00000431965:exon6:c.472-2A>G;ENST00000256425:exon8:c.586-2A>G;ENST00000588444:exon6:c.430-2A>G;ENST00000436348:exon7:c.628-2A>G;ENST00000398439:exon8:c.586-2A>G;ENST00000592966:exon6:c.430-2A>G;ENST00000590988:exon6:c.366-2A>G)	.	.	0.999978952611685	0.926
18	48326515	T	G	18	50800145	y	y	splicing	MRO(NM_031939:exon8:c.586-2A>C;NM_001127176:exon7:c.628-2A>C;NM_001127175:exon6:c.472-2A>C;NM_001127174:exon6:c.430-2A>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon8:c.731-2A>C;ENST00000428869:exon9:c.586-2A>C;ENST00000431965:exon6:c.472-2A>C;ENST00000256425:exon8:c.586-2A>C;ENST00000588444:exon6:c.430-2A>C;ENST00000436348:exon7:c.628-2A>C;ENST00000398439:exon8:c.586-2A>C;ENST00000592966:exon6:c.430-2A>C;ENST00000590988:exon6:c.366-2A>C)	.	.	0.999978952611685	0.926
18	48326516	G	A	18	50800146	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0122475405424367	0.254
18	48326516	G	C	18	50800146	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999677153206418	0.942
18	48326516	G	T	18	50800146	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.996136161387982	0.776
18	48326517	A	C	18	50800147	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.28951842935835E-4	0.008
18	48326517	A	G	18	50800147	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.14514887175837E-5	0.008
18	48326517	A	T	18	50800147	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	4.25301170492465E-5	0.0
18	48326518	G	A	18	50800148	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.49551855632932E-4	0.02
18	48326518	G	C	18	50800148	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0610377629320366	0.148
18	48326518	G	T	18	50800148	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00112278116643461	0.038
18	48326519	A	C	18	50800149	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.132223107745274	0.392
18	48326519	A	G	18	50800149	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.75662759098079E-5	0.002
18	48326519	A	T	18	50800149	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.12422073843432	0.436
18	48326520	A	C	18	50800150	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00532973596492489	0.024
18	48326520	A	G	18	50800150	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.86248350333504E-5	0.078
18	48326520	A	T	18	50800150	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0107229975927453	0.124
18	48326521	A	C	18	50800151	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00365544725495288	0.034
18	48326521	A	G	18	50800151	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.92369774974992E-5	0.0
18	48326521	A	T	18	50800151	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0807215349023957	0.174
18	48326522	A	C	18	50800152	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0161972090885901	0.09
18	48326522	A	G	18	50800152	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.34071439672704E-5	0.026
18	48326522	A	T	18	50800152	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00976852066168361	0.08
18	48326523	A	C	18	50800153	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.99995589347561	0.994
18	48326523	A	G	18	50800153	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00340578646245391	0.074
18	48326523	A	T	18	50800153	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.154090310262057	0.364
18	48326524	T	A	18	50800154	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.71375713018427E-5	0.106
18	48326524	T	C	18	50800154	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.0942257588138E-5	0.05
18	48326524	T	G	18	50800154	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.12718219630934E-5	0.044
18	48326525	A	C	18	50800155	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0889542565035497	0.288
18	48326525	A	G	18	50800155	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	4.55348756246091E-5	0.026
18	48326525	A	T	18	50800155	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0285393504632929	0.232
18	48327711	G	A	18	50801341	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.27237026149931E-5	0.0
18	48327711	G	C	18	50801341	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.27237026149931E-5	0.006
18	48327711	G	T	18	50801341	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.27237026149931E-5	0.0
18	48327712	G	A	18	50801342	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.65701439116404E-5	0.002
18	48327712	G	C	18	50801342	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.46242793764993E-5	0.0
18	48327712	G	T	18	50801342	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.11495752684451E-5	0.0
18	48327713	T	A	18	50801343	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.52381851378739E-5	0.01
18	48327713	T	C	18	50801343	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.90900601544966E-5	0.0
18	48327713	T	G	18	50801343	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.05026296736169E-5	0.004
18	48327714	C	A	18	50801344	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.952347533825391	0.644
18	48327714	C	G	18	50801344	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.940384822190135	0.728
18	48327714	C	T	18	50801344	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.9741220244095	0.706
18	48327715	T	A	18	50801345	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.974944866422194	0.814
18	48327715	T	C	18	50801345	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.988468838551361	0.868
18	48327715	T	G	18	50801345	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.982724891010249	0.852
18	48327716	T	A	18	50801346	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.859325035987758	0.624
18	48327716	T	C	18	50801346	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0145805365723862	0.272
18	48327716	T	G	18	50801346	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.960768191959093	0.648
18	48327717	A	C	18	50801347	y	y	splicing	MRO(NM_031939:exon7:c.585+2T>G;NM_001127176:exon6:c.627+2T>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.730+2T>G;ENST00000428869:exon8:c.585+2T>G;ENST00000256425:exon7:c.585+2T>G;ENST00000436348:exon6:c.627+2T>G;ENST00000398439:exon7:c.585+2T>G)	.	.	0.999988247793601	0.928
18	48327717	A	G	18	50801347	y	y	splicing	MRO(NM_031939:exon7:c.585+2T>C;NM_001127176:exon6:c.627+2T>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.730+2T>C;ENST00000428869:exon8:c.585+2T>C;ENST00000256425:exon7:c.585+2T>C;ENST00000436348:exon6:c.627+2T>C;ENST00000398439:exon7:c.585+2T>C)	.	.	0.99340600729494	0.64
18	48327717	A	T	18	50801347	y	y	splicing	MRO(NM_031939:exon7:c.585+2T>A;NM_001127176:exon6:c.627+2T>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.730+2T>A;ENST00000428869:exon8:c.585+2T>A;ENST00000256425:exon7:c.585+2T>A;ENST00000436348:exon6:c.627+2T>A;ENST00000398439:exon7:c.585+2T>A)	.	.	0.999988247793601	0.928
18	48327718	C	A	18	50801348	y	y	splicing	MRO(NM_031939:exon7:c.585+1G>T;NM_001127176:exon6:c.627+1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.730+1G>T;ENST00000428869:exon8:c.585+1G>T;ENST00000256425:exon7:c.585+1G>T;ENST00000436348:exon6:c.627+1G>T;ENST00000398439:exon7:c.585+1G>T)	.	.	0.999985532734767	0.938
18	48327718	C	G	18	50801348	y	y	splicing	MRO(NM_031939:exon7:c.585+1G>C;NM_001127176:exon6:c.627+1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.730+1G>C;ENST00000428869:exon8:c.585+1G>C;ENST00000256425:exon7:c.585+1G>C;ENST00000436348:exon6:c.627+1G>C;ENST00000398439:exon7:c.585+1G>C)	.	.	0.999985532734767	0.938
18	48327718	C	T	18	50801348	y	y	splicing	MRO(NM_031939:exon7:c.585+1G>A;NM_001127176:exon6:c.627+1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.730+1G>A;ENST00000428869:exon8:c.585+1G>A;ENST00000256425:exon7:c.585+1G>A;ENST00000436348:exon6:c.627+1G>A;ENST00000398439:exon7:c.585+1G>A)	.	.	0.999985532734767	0.938
18	48327719	C	A	18	50801349	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.G627T:p.K209N;MRO:NM_031939:exon6:c.G585T:p.K195N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.G627T:p.K209N;ENSG00000134042:ENST00000256425:exon6:c.G585T:p.K195N;ENSG00000134042:ENST00000398439:exon6:c.G585T:p.K195N;ENSG00000134042:ENST00000428869:exon7:c.G585T:p.K195N;	0.99979987543571	0.978
18	48327719	C	G	18	50801349	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.G627C:p.K209N;MRO:NM_031939:exon6:c.G585C:p.K195N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.G627C:p.K209N;ENSG00000134042:ENST00000256425:exon6:c.G585C:p.K195N;ENSG00000134042:ENST00000398439:exon6:c.G585C:p.K195N;ENSG00000134042:ENST00000428869:exon7:c.G585C:p.K195N;	0.999844365180146	0.918
18	48327719	C	T	18	50801349	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon5:c.G627A:p.K209K;MRO:NM_031939:exon6:c.G585A:p.K195K;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.G627A:p.K209K;ENSG00000134042:ENST00000256425:exon6:c.G585A:p.K195K;ENSG00000134042:ENST00000398439:exon6:c.G585A:p.K195K;ENSG00000134042:ENST00000428869:exon7:c.G585A:p.K195K;	0.99900225251279	0.95
18	48327720	T	A	18	50801350	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.A626T:p.K209M;MRO:NM_031939:exon6:c.A584T:p.K195M;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.A626T:p.K209M;ENSG00000134042:ENST00000256425:exon6:c.A584T:p.K195M;ENSG00000134042:ENST00000398439:exon6:c.A584T:p.K195M;ENSG00000134042:ENST00000428869:exon7:c.A584T:p.K195M;	0.371716076854636	0.478
18	48327720	T	C	18	50801350	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.A626G:p.K209R;MRO:NM_031939:exon6:c.A584G:p.K195R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.A626G:p.K209R;ENSG00000134042:ENST00000256425:exon6:c.A584G:p.K195R;ENSG00000134042:ENST00000398439:exon6:c.A584G:p.K195R;ENSG00000134042:ENST00000428869:exon7:c.A584G:p.K195R;	0.266923479214859	0.498
18	48327720	T	G	18	50801350	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.A626C:p.K209T;MRO:NM_031939:exon6:c.A584C:p.K195T;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.A626C:p.K209T;ENSG00000134042:ENST00000256425:exon6:c.A584C:p.K195T;ENSG00000134042:ENST00000398439:exon6:c.A584C:p.K195T;ENSG00000134042:ENST00000428869:exon7:c.A584C:p.K195T;	0.0723423611025549	0.548
18	48327721	T	A	18	50801351	y	y	exonic	MRO	stopgain SNV	MRO:NM_001127176:exon5:c.A625T:p.K209X;MRO:NM_031939:exon6:c.A583T:p.K195X;	exonic	ENSG00000134042	stopgain SNV	ENSG00000134042:ENST00000436348:exon5:c.A625T:p.K209X;ENSG00000134042:ENST00000256425:exon6:c.A583T:p.K195X;ENSG00000134042:ENST00000398439:exon6:c.A583T:p.K195X;ENSG00000134042:ENST00000428869:exon7:c.A583T:p.K195X;	0.95209035116086	0.614
18	48327721	T	C	18	50801351	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.A625G:p.K209E;MRO:NM_031939:exon6:c.A583G:p.K195E;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.A625G:p.K209E;ENSG00000134042:ENST00000256425:exon6:c.A583G:p.K195E;ENSG00000134042:ENST00000398439:exon6:c.A583G:p.K195E;ENSG00000134042:ENST00000428869:exon7:c.A583G:p.K195E;	0.236362388082401	0.38
18	48327721	T	G	18	50801351	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.A625C:p.K209Q;MRO:NM_031939:exon6:c.A583C:p.K195Q;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.A625C:p.K209Q;ENSG00000134042:ENST00000256425:exon6:c.A583C:p.K195Q;ENSG00000134042:ENST00000398439:exon6:c.A583C:p.K195Q;ENSG00000134042:ENST00000428869:exon7:c.A583C:p.K195Q;	0.689235510315171	0.528
18	48327873	T	A	18	50801503	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.A473T:p.E158V;MRO:NM_031939:exon6:c.A431T:p.E144V;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.A473T:p.E158V;ENSG00000134042:ENST00000256425:exon6:c.A431T:p.E144V;ENSG00000134042:ENST00000398439:exon6:c.A431T:p.E144V;ENSG00000134042:ENST00000428869:exon7:c.A431T:p.E144V;	0.142333390061034	0.53
18	48327873	T	C	18	50801503	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.A473G:p.E158G;MRO:NM_031939:exon6:c.A431G:p.E144G;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.A473G:p.E158G;ENSG00000134042:ENST00000256425:exon6:c.A431G:p.E144G;ENSG00000134042:ENST00000398439:exon6:c.A431G:p.E144G;ENSG00000134042:ENST00000428869:exon7:c.A431G:p.E144G;	0.643168857811568	0.672
18	48327873	T	G	18	50801503	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.A473C:p.E158A;MRO:NM_031939:exon6:c.A431C:p.E144A;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.A473C:p.E158A;ENSG00000134042:ENST00000256425:exon6:c.A431C:p.E144A;ENSG00000134042:ENST00000398439:exon6:c.A431C:p.E144A;ENSG00000134042:ENST00000428869:exon7:c.A431C:p.E144A;	0.468597706731038	0.736
18	48327874	C	A	18	50801504	y	y	exonic	MRO	stopgain SNV	MRO:NM_001127176:exon5:c.G472T:p.E158X;MRO:NM_031939:exon6:c.G430T:p.E144X;	exonic	ENSG00000134042	stopgain SNV	ENSG00000134042:ENST00000436348:exon5:c.G472T:p.E158X;ENSG00000134042:ENST00000256425:exon6:c.G430T:p.E144X;ENSG00000134042:ENST00000398439:exon6:c.G430T:p.E144X;ENSG00000134042:ENST00000428869:exon7:c.G430T:p.E144X;	0.998014798936952	0.916
18	48327874	C	G	18	50801504	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.G472C:p.E158Q;MRO:NM_031939:exon6:c.G430C:p.E144Q;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.G472C:p.E158Q;ENSG00000134042:ENST00000256425:exon6:c.G430C:p.E144Q;ENSG00000134042:ENST00000398439:exon6:c.G430C:p.E144Q;ENSG00000134042:ENST00000428869:exon7:c.G430C:p.E144Q;	0.989204333172849	0.81
18	48327874	C	T	18	50801504	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon5:c.G472A:p.E158K;MRO:NM_031939:exon6:c.G430A:p.E144K;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000436348:exon5:c.G472A:p.E158K;ENSG00000134042:ENST00000256425:exon6:c.G430A:p.E144K;ENSG00000134042:ENST00000398439:exon6:c.G430A:p.E144K;ENSG00000134042:ENST00000428869:exon7:c.G430A:p.E144K;	0.957049052498828	0.744
18	48327875	C	A	18	50801505	y	y	splicing	MRO(NM_031939:exon7:c.430-1G>T;NM_001127176:exon6:c.472-1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.575-1G>T;ENST00000428869:exon8:c.430-1G>T;ENST00000256425:exon7:c.430-1G>T;ENST00000436348:exon6:c.472-1G>T;ENST00000398439:exon7:c.430-1G>T)	.	.	0.999759940060576	0.82
18	48327875	C	G	18	50801505	y	y	splicing	MRO(NM_031939:exon7:c.430-1G>C;NM_001127176:exon6:c.472-1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.575-1G>C;ENST00000428869:exon8:c.430-1G>C;ENST00000256425:exon7:c.430-1G>C;ENST00000436348:exon6:c.472-1G>C;ENST00000398439:exon7:c.430-1G>C)	.	.	0.999759940060576	0.796
18	48327875	C	T	18	50801505	y	y	splicing	MRO(NM_031939:exon7:c.430-1G>A;NM_001127176:exon6:c.472-1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.575-1G>A;ENST00000428869:exon8:c.430-1G>A;ENST00000256425:exon7:c.430-1G>A;ENST00000436348:exon6:c.472-1G>A;ENST00000398439:exon7:c.430-1G>A)	.	.	0.999759940060576	0.834
18	48327876	T	A	18	50801506	y	y	splicing	MRO(NM_031939:exon7:c.430-2A>T;NM_001127176:exon6:c.472-2A>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.575-2A>T;ENST00000428869:exon8:c.430-2A>T;ENST00000256425:exon7:c.430-2A>T;ENST00000436348:exon6:c.472-2A>T;ENST00000398439:exon7:c.430-2A>T)	.	.	0.999804983639994	0.824
18	48327876	T	C	18	50801506	y	y	splicing	MRO(NM_031939:exon7:c.430-2A>G;NM_001127176:exon6:c.472-2A>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.575-2A>G;ENST00000428869:exon8:c.430-2A>G;ENST00000256425:exon7:c.430-2A>G;ENST00000436348:exon6:c.472-2A>G;ENST00000398439:exon7:c.430-2A>G)	.	.	0.999804983639994	0.784
18	48327876	T	G	18	50801506	y	y	splicing	MRO(NM_031939:exon7:c.430-2A>C;NM_001127176:exon6:c.472-2A>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon7:c.575-2A>C;ENST00000428869:exon8:c.430-2A>C;ENST00000256425:exon7:c.430-2A>C;ENST00000436348:exon6:c.472-2A>C;ENST00000398439:exon7:c.430-2A>C)	.	.	0.999804983639994	0.786
18	48327877	G	A	18	50801507	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00891935616381807	0.218
18	48327877	G	C	18	50801507	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999692345547125	0.74
18	48327877	G	T	18	50801507	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999790346353115	0.84
18	48327878	C	A	18	50801508	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00246325442322719	0.068
18	48327878	C	G	18	50801508	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.42783500670105E-4	0.07
18	48327878	C	T	18	50801508	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00170160622648215	0.058
18	48327879	G	A	18	50801509	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00145280544600271	0.07
18	48327879	G	C	18	50801509	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.140267434180216	0.244
18	48327879	G	T	18	50801509	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999057506048376	0.974
18	48327880	G	A	18	50801510	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00291506206892196	0.098
18	48327880	G	C	18	50801510	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.997979077823188	0.894
18	48327880	G	T	18	50801510	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.246557323696256	0.402
18	48327881	T	A	18	50801511	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.21154872789582E-5	0.08
18	48327881	T	C	18	50801511	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.36425378416368E-4	0.144
18	48327881	T	G	18	50801511	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.21325115364939E-5	0.06
18	48327882	C	A	18	50801512	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.20798458496187E-5	0.034
18	48327882	C	G	18	50801512	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.20798458496187E-5	0.018
18	48327882	C	T	18	50801512	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.49280669714656E-4	0.016
18	48327883	C	A	18	50801513	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.6190979924812E-5	0.078
18	48327883	C	G	18	50801513	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	4.92384031721857E-5	0.05
18	48327883	C	T	18	50801513	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999040249982356	0.97
18	48327884	C	A	18	50801514	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.50624482794528E-5	0.052
18	48327884	C	G	18	50801514	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.50624482794528E-5	0.052
18	48327884	C	T	18	50801514	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999107129576478	0.964
18	48327885	C	A	18	50801515	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.54597015864124E-4	0.096
18	48327885	C	G	18	50801515	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.98921382599974E-5	0.076
18	48327885	C	T	18	50801515	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.998464032826989	0.948
18	48327886	A	C	18	50801516	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.617482989894202	0.63
18	48327886	A	G	18	50801516	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.61902643498556E-4	0.15
18	48327886	A	T	18	50801516	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.617482989894202	0.614
18	48331516	T	A	18	50805146	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.53085657222375E-5	0.0
18	48331516	T	C	18	50805146	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.53085657222375E-5	0.0
18	48331516	T	G	18	50805146	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.53085657222375E-5	0.0
18	48331517	T	A	18	50805147	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.98673543264325E-5	0.0
18	48331517	T	C	18	50805147	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.07804976468356E-5	0.0
18	48331517	T	G	18	50805147	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.07804976468356E-5	0.0
18	48331518	A	C	18	50805148	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0354491440251525	0.284
18	48331518	A	G	18	50805148	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0788647274131211	0.342
18	48331518	A	T	18	50805148	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0522857894805177	0.206
18	48331519	C	A	18	50805149	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.99993285978449	0.888
18	48331519	C	G	18	50805149	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999936749415607	0.842
18	48331519	C	T	18	50805149	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999902976318954	0.87
18	48331520	T	A	18	50805150	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.538963465652415	0.596
18	48331520	T	C	18	50805150	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.923502190301071	0.738
18	48331520	T	G	18	50805150	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.469708650522978	0.488
18	48331521	T	A	18	50805151	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.995140335972895	0.706
18	48331521	T	C	18	50805151	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.77790768310824E-4	0.044
18	48331521	T	G	18	50805151	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.97544035365693	0.76
18	48331522	A	C	18	50805152	y	y	splicing	MRO(NM_031939:exon6:c.429+2T>G;NM_001127176:exon5:c.471+2T>G;NM_001127175:exon5:c.471+2T>G;NM_001127174:exon5:c.429+2T>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.574+2T>G;ENST00000428869:exon7:c.429+2T>G;ENST00000431965:exon5:c.471+2T>G;ENST00000256425:exon6:c.429+2T>G;ENST00000588444:exon5:c.429+2T>G;ENST00000436348:exon5:c.471+2T>G;ENST00000398439:exon6:c.429+2T>G;ENST00000592966:exon5:c.429+2T>G;ENST00000590988:exon5:c.365+2T>G)	.	.	0.999962958601995	0.8
18	48331522	A	G	18	50805152	y	y	splicing	MRO(NM_031939:exon6:c.429+2T>C;NM_001127176:exon5:c.471+2T>C;NM_001127175:exon5:c.471+2T>C;NM_001127174:exon5:c.429+2T>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.574+2T>C;ENST00000428869:exon7:c.429+2T>C;ENST00000431965:exon5:c.471+2T>C;ENST00000256425:exon6:c.429+2T>C;ENST00000588444:exon5:c.429+2T>C;ENST00000436348:exon5:c.471+2T>C;ENST00000398439:exon6:c.429+2T>C;ENST00000592966:exon5:c.429+2T>C;ENST00000590988:exon5:c.365+2T>C)	.	.	0.897900512205031	0.554
18	48331522	A	T	18	50805152	y	y	splicing	MRO(NM_031939:exon6:c.429+2T>A;NM_001127176:exon5:c.471+2T>A;NM_001127175:exon5:c.471+2T>A;NM_001127174:exon5:c.429+2T>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.574+2T>A;ENST00000428869:exon7:c.429+2T>A;ENST00000431965:exon5:c.471+2T>A;ENST00000256425:exon6:c.429+2T>A;ENST00000588444:exon5:c.429+2T>A;ENST00000436348:exon5:c.471+2T>A;ENST00000398439:exon6:c.429+2T>A;ENST00000592966:exon5:c.429+2T>A;ENST00000590988:exon5:c.365+2T>A)	.	.	0.999969255906173	0.846
18	48331523	C	A	18	50805153	y	y	splicing	MRO(NM_031939:exon6:c.429+1G>T;NM_001127176:exon5:c.471+1G>T;NM_001127175:exon5:c.471+1G>T;NM_001127174:exon5:c.429+1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.574+1G>T;ENST00000428869:exon7:c.429+1G>T;ENST00000431965:exon5:c.471+1G>T;ENST00000256425:exon6:c.429+1G>T;ENST00000588444:exon5:c.429+1G>T;ENST00000436348:exon5:c.471+1G>T;ENST00000398439:exon6:c.429+1G>T;ENST00000592966:exon5:c.429+1G>T;ENST00000590988:exon5:c.365+1G>T)	.	.	0.99996555635344	0.854
18	48331523	C	G	18	50805153	y	y	splicing	MRO(NM_031939:exon6:c.429+1G>C;NM_001127176:exon5:c.471+1G>C;NM_001127175:exon5:c.471+1G>C;NM_001127174:exon5:c.429+1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.574+1G>C;ENST00000428869:exon7:c.429+1G>C;ENST00000431965:exon5:c.471+1G>C;ENST00000256425:exon6:c.429+1G>C;ENST00000588444:exon5:c.429+1G>C;ENST00000436348:exon5:c.471+1G>C;ENST00000398439:exon6:c.429+1G>C;ENST00000592966:exon5:c.429+1G>C;ENST00000590988:exon5:c.365+1G>C)	.	.	0.99996555635344	0.822
18	48331523	C	T	18	50805153	y	y	splicing	MRO(NM_031939:exon6:c.429+1G>A;NM_001127176:exon5:c.471+1G>A;NM_001127175:exon5:c.471+1G>A;NM_001127174:exon5:c.429+1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.574+1G>A;ENST00000428869:exon7:c.429+1G>A;ENST00000431965:exon5:c.471+1G>A;ENST00000256425:exon6:c.429+1G>A;ENST00000588444:exon5:c.429+1G>A;ENST00000436348:exon5:c.471+1G>A;ENST00000398439:exon6:c.429+1G>A;ENST00000592966:exon5:c.429+1G>A;ENST00000590988:exon5:c.365+1G>A)	.	.	0.999971837025153	0.868
18	48331524	G	A	18	50805154	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon4:c.C471T:p.D157D;MRO:NM_001127175:exon4:c.C471T:p.D157D;MRO:NM_001127174:exon4:c.C429T:p.D143D;MRO:NM_031939:exon5:c.C429T:p.D143D;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.C471T:p.D157D;ENSG00000134042:ENST00000436348:exon4:c.C471T:p.D157D;ENSG00000134042:ENST00000256425:exon5:c.C429T:p.D143D;ENSG00000134042:ENST00000398439:exon5:c.C429T:p.D143D;ENSG00000134042:ENST00000428869:exon6:c.C429T:p.D143D;ENSG00000134042:ENST00000588444:exon4:c.C429T:p.D143D;ENSG00000134042:ENST00000592966:exon4:c.C429T:p.D143D;	1.24539552902704E-4	0.202
18	48331524	G	C	18	50805154	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.C471G:p.D157E;MRO:NM_001127175:exon4:c.C471G:p.D157E;MRO:NM_001127174:exon4:c.C429G:p.D143E;MRO:NM_031939:exon5:c.C429G:p.D143E;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.C471G:p.D157E;ENSG00000134042:ENST00000436348:exon4:c.C471G:p.D157E;ENSG00000134042:ENST00000256425:exon5:c.C429G:p.D143E;ENSG00000134042:ENST00000398439:exon5:c.C429G:p.D143E;ENSG00000134042:ENST00000428869:exon6:c.C429G:p.D143E;ENSG00000134042:ENST00000588444:exon4:c.C429G:p.D143E;ENSG00000134042:ENST00000592966:exon4:c.C429G:p.D143E;	7.97771276597777E-6	0.256
18	48331524	G	T	18	50805154	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.C471A:p.D157E;MRO:NM_001127175:exon4:c.C471A:p.D157E;MRO:NM_001127174:exon4:c.C429A:p.D143E;MRO:NM_031939:exon5:c.C429A:p.D143E;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.C471A:p.D157E;ENSG00000134042:ENST00000436348:exon4:c.C471A:p.D157E;ENSG00000134042:ENST00000256425:exon5:c.C429A:p.D143E;ENSG00000134042:ENST00000398439:exon5:c.C429A:p.D143E;ENSG00000134042:ENST00000428869:exon6:c.C429A:p.D143E;ENSG00000134042:ENST00000588444:exon4:c.C429A:p.D143E;ENSG00000134042:ENST00000592966:exon4:c.C429A:p.D143E;	2.40975636546949E-5	0.1
18	48331525	T	A	18	50805155	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.A470T:p.D157V;MRO:NM_001127175:exon4:c.A470T:p.D157V;MRO:NM_001127174:exon4:c.A428T:p.D143V;MRO:NM_031939:exon5:c.A428T:p.D143V;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.A470T:p.D157V;ENSG00000134042:ENST00000436348:exon4:c.A470T:p.D157V;ENSG00000134042:ENST00000256425:exon5:c.A428T:p.D143V;ENSG00000134042:ENST00000398439:exon5:c.A428T:p.D143V;ENSG00000134042:ENST00000428869:exon6:c.A428T:p.D143V;ENSG00000134042:ENST00000588444:exon4:c.A428T:p.D143V;ENSG00000134042:ENST00000592966:exon4:c.A428T:p.D143V;	0.995697830402176	0.922
18	48331525	T	C	18	50805155	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.A470G:p.D157G;MRO:NM_001127175:exon4:c.A470G:p.D157G;MRO:NM_001127174:exon4:c.A428G:p.D143G;MRO:NM_031939:exon5:c.A428G:p.D143G;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.A470G:p.D157G;ENSG00000134042:ENST00000436348:exon4:c.A470G:p.D157G;ENSG00000134042:ENST00000256425:exon5:c.A428G:p.D143G;ENSG00000134042:ENST00000398439:exon5:c.A428G:p.D143G;ENSG00000134042:ENST00000428869:exon6:c.A428G:p.D143G;ENSG00000134042:ENST00000588444:exon4:c.A428G:p.D143G;ENSG00000134042:ENST00000592966:exon4:c.A428G:p.D143G;	0.99283894893351	0.928
18	48331525	T	G	18	50805155	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.A470C:p.D157A;MRO:NM_001127175:exon4:c.A470C:p.D157A;MRO:NM_001127174:exon4:c.A428C:p.D143A;MRO:NM_031939:exon5:c.A428C:p.D143A;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.A470C:p.D157A;ENSG00000134042:ENST00000436348:exon4:c.A470C:p.D157A;ENSG00000134042:ENST00000256425:exon5:c.A428C:p.D143A;ENSG00000134042:ENST00000398439:exon5:c.A428C:p.D143A;ENSG00000134042:ENST00000428869:exon6:c.A428C:p.D143A;ENSG00000134042:ENST00000588444:exon4:c.A428C:p.D143A;ENSG00000134042:ENST00000592966:exon4:c.A428C:p.D143A;	0.991964675482224	0.93
18	48331526	C	A	18	50805156	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.G469T:p.D157Y;MRO:NM_001127175:exon4:c.G469T:p.D157Y;MRO:NM_001127174:exon4:c.G427T:p.D143Y;MRO:NM_031939:exon5:c.G427T:p.D143Y;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.G469T:p.D157Y;ENSG00000134042:ENST00000436348:exon4:c.G469T:p.D157Y;ENSG00000134042:ENST00000256425:exon5:c.G427T:p.D143Y;ENSG00000134042:ENST00000398439:exon5:c.G427T:p.D143Y;ENSG00000134042:ENST00000428869:exon6:c.G427T:p.D143Y;ENSG00000134042:ENST00000588444:exon4:c.G427T:p.D143Y;ENSG00000134042:ENST00000592966:exon4:c.G427T:p.D143Y;	0.768534158273342	0.64
18	48331526	C	G	18	50805156	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.G469C:p.D157H;MRO:NM_001127175:exon4:c.G469C:p.D157H;MRO:NM_001127174:exon4:c.G427C:p.D143H;MRO:NM_031939:exon5:c.G427C:p.D143H;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.G469C:p.D157H;ENSG00000134042:ENST00000436348:exon4:c.G469C:p.D157H;ENSG00000134042:ENST00000256425:exon5:c.G427C:p.D143H;ENSG00000134042:ENST00000398439:exon5:c.G427C:p.D143H;ENSG00000134042:ENST00000428869:exon6:c.G427C:p.D143H;ENSG00000134042:ENST00000588444:exon4:c.G427C:p.D143H;ENSG00000134042:ENST00000592966:exon4:c.G427C:p.D143H;	0.582963261293455	0.456
18	48331526	C	T	18	50805156	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.G469A:p.D157N;MRO:NM_001127175:exon4:c.G469A:p.D157N;MRO:NM_001127174:exon4:c.G427A:p.D143N;MRO:NM_031939:exon5:c.G427A:p.D143N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.G469A:p.D157N;ENSG00000134042:ENST00000436348:exon4:c.G469A:p.D157N;ENSG00000134042:ENST00000256425:exon5:c.G427A:p.D143N;ENSG00000134042:ENST00000398439:exon5:c.G427A:p.D143N;ENSG00000134042:ENST00000428869:exon6:c.G427A:p.D143N;ENSG00000134042:ENST00000588444:exon4:c.G427A:p.D143N;ENSG00000134042:ENST00000592966:exon4:c.G427A:p.D143N;	0.673833913123047	0.56
18	48331705	A	C	18	50805335	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.T290G:p.V97G;MRO:NM_001127175:exon4:c.T290G:p.V97G;MRO:NM_001127174:exon4:c.T248G:p.V83G;MRO:NM_031939:exon5:c.T248G:p.V83G;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.T290G:p.V97G;ENSG00000134042:ENST00000436348:exon4:c.T290G:p.V97G;ENSG00000134042:ENST00000256425:exon5:c.T248G:p.V83G;ENSG00000134042:ENST00000398439:exon5:c.T248G:p.V83G;ENSG00000134042:ENST00000428869:exon6:c.T248G:p.V83G;ENSG00000134042:ENST00000588444:exon4:c.T248G:p.V83G;ENSG00000134042:ENST00000592966:exon4:c.T248G:p.V83G;	0.733701350464228	0.454
18	48331705	A	G	18	50805335	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.T290C:p.V97A;MRO:NM_001127175:exon4:c.T290C:p.V97A;MRO:NM_001127174:exon4:c.T248C:p.V83A;MRO:NM_031939:exon5:c.T248C:p.V83A;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.T290C:p.V97A;ENSG00000134042:ENST00000436348:exon4:c.T290C:p.V97A;ENSG00000134042:ENST00000256425:exon5:c.T248C:p.V83A;ENSG00000134042:ENST00000398439:exon5:c.T248C:p.V83A;ENSG00000134042:ENST00000428869:exon6:c.T248C:p.V83A;ENSG00000134042:ENST00000588444:exon4:c.T248C:p.V83A;ENSG00000134042:ENST00000592966:exon4:c.T248C:p.V83A;	0.270205203752396	0.252
18	48331705	A	T	18	50805335	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.T290A:p.V97E;MRO:NM_001127175:exon4:c.T290A:p.V97E;MRO:NM_001127174:exon4:c.T248A:p.V83E;MRO:NM_031939:exon5:c.T248A:p.V83E;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.T290A:p.V97E;ENSG00000134042:ENST00000436348:exon4:c.T290A:p.V97E;ENSG00000134042:ENST00000256425:exon5:c.T248A:p.V83E;ENSG00000134042:ENST00000398439:exon5:c.T248A:p.V83E;ENSG00000134042:ENST00000428869:exon6:c.T248A:p.V83E;ENSG00000134042:ENST00000588444:exon4:c.T248A:p.V83E;ENSG00000134042:ENST00000592966:exon4:c.T248A:p.V83E;	0.825248582296371	0.432
18	48331706	C	A	18	50805336	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.G289T:p.V97L;MRO:NM_001127175:exon4:c.G289T:p.V97L;MRO:NM_001127174:exon4:c.G247T:p.V83L;MRO:NM_031939:exon5:c.G247T:p.V83L;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.G289T:p.V97L;ENSG00000134042:ENST00000436348:exon4:c.G289T:p.V97L;ENSG00000134042:ENST00000256425:exon5:c.G247T:p.V83L;ENSG00000134042:ENST00000398439:exon5:c.G247T:p.V83L;ENSG00000134042:ENST00000428869:exon6:c.G247T:p.V83L;ENSG00000134042:ENST00000588444:exon4:c.G247T:p.V83L;ENSG00000134042:ENST00000592966:exon4:c.G247T:p.V83L;	0.676572898439981	0.756
18	48331706	C	G	18	50805336	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.G289C:p.V97L;MRO:NM_001127175:exon4:c.G289C:p.V97L;MRO:NM_001127174:exon4:c.G247C:p.V83L;MRO:NM_031939:exon5:c.G247C:p.V83L;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.G289C:p.V97L;ENSG00000134042:ENST00000436348:exon4:c.G289C:p.V97L;ENSG00000134042:ENST00000256425:exon5:c.G247C:p.V83L;ENSG00000134042:ENST00000398439:exon5:c.G247C:p.V83L;ENSG00000134042:ENST00000428869:exon6:c.G247C:p.V83L;ENSG00000134042:ENST00000588444:exon4:c.G247C:p.V83L;ENSG00000134042:ENST00000592966:exon4:c.G247C:p.V83L;	0.0365571228302757	0.544
18	48331706	C	T	18	50805336	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon4:c.G289A:p.V97M;MRO:NM_001127175:exon4:c.G289A:p.V97M;MRO:NM_001127174:exon4:c.G247A:p.V83M;MRO:NM_031939:exon5:c.G247A:p.V83M;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon4:c.G289A:p.V97M;ENSG00000134042:ENST00000436348:exon4:c.G289A:p.V97M;ENSG00000134042:ENST00000256425:exon5:c.G247A:p.V83M;ENSG00000134042:ENST00000398439:exon5:c.G247A:p.V83M;ENSG00000134042:ENST00000428869:exon6:c.G247A:p.V83M;ENSG00000134042:ENST00000588444:exon4:c.G247A:p.V83M;ENSG00000134042:ENST00000592966:exon4:c.G247A:p.V83M;	0.267339913857571	0.446
18	48331707	C	A	18	50805337	y	y	splicing	MRO(NM_031939:exon6:c.247-1G>T;NM_001127176:exon5:c.289-1G>T;NM_001127175:exon5:c.289-1G>T;NM_001127174:exon5:c.247-1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.392-1G>T;ENST00000428869:exon7:c.247-1G>T;ENST00000431965:exon5:c.289-1G>T;ENST00000256425:exon6:c.247-1G>T;ENST00000588444:exon5:c.247-1G>T;ENST00000436348:exon5:c.289-1G>T;ENST00000398439:exon6:c.247-1G>T;ENST00000592966:exon5:c.247-1G>T;ENST00000590988:exon5:c.183-1G>T)	.	.	0.999970788179401	0.902
18	48331707	C	G	18	50805337	y	y	splicing	MRO(NM_031939:exon6:c.247-1G>C;NM_001127176:exon5:c.289-1G>C;NM_001127175:exon5:c.289-1G>C;NM_001127174:exon5:c.247-1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.392-1G>C;ENST00000428869:exon7:c.247-1G>C;ENST00000431965:exon5:c.289-1G>C;ENST00000256425:exon6:c.247-1G>C;ENST00000588444:exon5:c.247-1G>C;ENST00000436348:exon5:c.289-1G>C;ENST00000398439:exon6:c.247-1G>C;ENST00000592966:exon5:c.247-1G>C;ENST00000590988:exon5:c.183-1G>C)	.	.	0.999967746753559	0.886
18	48331707	C	T	18	50805337	y	y	splicing	MRO(NM_031939:exon6:c.247-1G>A;NM_001127176:exon5:c.289-1G>A;NM_001127175:exon5:c.289-1G>A;NM_001127174:exon5:c.247-1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.392-1G>A;ENST00000428869:exon7:c.247-1G>A;ENST00000431965:exon5:c.289-1G>A;ENST00000256425:exon6:c.247-1G>A;ENST00000588444:exon5:c.247-1G>A;ENST00000436348:exon5:c.289-1G>A;ENST00000398439:exon6:c.247-1G>A;ENST00000592966:exon5:c.247-1G>A;ENST00000590988:exon5:c.183-1G>A)	.	.	0.999971539563257	0.918
18	48331708	T	A	18	50805338	y	y	splicing	MRO(NM_031939:exon6:c.247-2A>T;NM_001127176:exon5:c.289-2A>T;NM_001127175:exon5:c.289-2A>T;NM_001127174:exon5:c.247-2A>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.392-2A>T;ENST00000428869:exon7:c.247-2A>T;ENST00000431965:exon5:c.289-2A>T;ENST00000256425:exon6:c.247-2A>T;ENST00000588444:exon5:c.247-2A>T;ENST00000436348:exon5:c.289-2A>T;ENST00000398439:exon6:c.247-2A>T;ENST00000592966:exon5:c.247-2A>T;ENST00000590988:exon5:c.183-2A>T)	.	.	0.999968585001639	0.886
18	48331708	T	C	18	50805338	y	y	splicing	MRO(NM_031939:exon6:c.247-2A>G;NM_001127176:exon5:c.289-2A>G;NM_001127175:exon5:c.289-2A>G;NM_001127174:exon5:c.247-2A>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.392-2A>G;ENST00000428869:exon7:c.247-2A>G;ENST00000431965:exon5:c.289-2A>G;ENST00000256425:exon6:c.247-2A>G;ENST00000588444:exon5:c.247-2A>G;ENST00000436348:exon5:c.289-2A>G;ENST00000398439:exon6:c.247-2A>G;ENST00000592966:exon5:c.247-2A>G;ENST00000590988:exon5:c.183-2A>G)	.	.	0.999965314197099	0.886
18	48331708	T	G	18	50805338	y	y	splicing	MRO(NM_031939:exon6:c.247-2A>C;NM_001127176:exon5:c.289-2A>C;NM_001127175:exon5:c.289-2A>C;NM_001127174:exon5:c.247-2A>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon6:c.392-2A>C;ENST00000428869:exon7:c.247-2A>C;ENST00000431965:exon5:c.289-2A>C;ENST00000256425:exon6:c.247-2A>C;ENST00000588444:exon5:c.247-2A>C;ENST00000436348:exon5:c.289-2A>C;ENST00000398439:exon6:c.247-2A>C;ENST00000592966:exon5:c.247-2A>C;ENST00000590988:exon5:c.183-2A>C)	.	.	0.999965314197099	0.884
18	48331709	G	A	18	50805339	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0552393219723934	0.23
18	48331709	G	C	18	50805339	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999913128059444	0.732
18	48331709	G	T	18	50805339	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.997852350329703	0.86
18	48331710	T	A	18	50805340	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.03490916490444E-4	0.014
18	48331710	T	C	18	50805340	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00203904095301828	0.07
18	48331710	T	G	18	50805340	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.08771889691371E-4	0.064
18	48331711	C	A	18	50805341	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.33684777350849E-5	0.0
18	48331711	C	G	18	50805341	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.33684777350849E-5	0.0
18	48331711	C	T	18	50805341	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.50082759131899E-5	0.004
18	48331712	A	C	18	50805342	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00601459818346635	0.292
18	48331712	A	G	18	50805342	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	4.06565352238713E-4	0.022
18	48331712	A	T	18	50805342	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.997622055674868	0.876
18	48331713	C	A	18	50805343	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.27219349862041E-5	0.004
18	48331713	C	G	18	50805343	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.00131894528275E-5	0.004
18	48331713	C	T	18	50805343	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.42456697187689E-5	0.056
18	48331714	C	A	18	50805344	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.17764300258475E-4	0.078
18	48331714	C	G	18	50805344	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.26420741683985E-4	0.02
18	48331714	C	T	18	50805344	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999744551197293	0.994
18	48331715	A	C	18	50805345	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00839766473313142	0.274
18	48331715	A	G	18	50805345	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00238191475240212	0.048
18	48331715	A	T	18	50805345	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999886131848644	0.988
18	48331716	A	C	18	50805346	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0232854128798255	0.446
18	48331716	A	G	18	50805346	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00260054245755324	0.126
18	48331716	A	T	18	50805346	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.100935388983185	0.506
18	48331717	G	A	18	50805347	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.29245534957562E-6	0.004
18	48331717	G	C	18	50805347	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.8504090606061E-4	0.044
18	48331717	G	T	18	50805347	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.04246235201201E-4	0.092
18	48331718	G	A	18	50805348	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.98996553511434E-4	0.008
18	48331718	G	C	18	50805348	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.99980153815276	0.992
18	48331718	G	T	18	50805348	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00538285571277426	0.068
18	48333066	T	A	18	50806696	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	4.00344160044259E-5	0.0
18	48333066	T	C	18	50806696	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.28134029491298E-5	0.0
18	48333066	T	G	18	50806696	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.05712265238751E-5	0.0
18	48333067	T	A	18	50806697	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.28001151734084E-5	0.0
18	48333067	T	C	18	50806697	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.28001151734084E-5	0.0
18	48333067	T	G	18	50806697	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.18739475854678E-5	0.0
18	48333068	C	A	18	50806698	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.34081165481663E-4	0.002
18	48333068	C	G	18	50806698	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.72613593355546E-4	0.012
18	48333068	C	T	18	50806698	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.21554072715817E-4	0.0
18	48333069	C	A	18	50806699	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.998385402615982	0.774
18	48333069	C	G	18	50806699	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.874276459509943	0.53
18	48333069	C	T	18	50806699	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.940279434323823	0.584
18	48333070	C	A	18	50806700	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.15788923016319E-5	0.01
18	48333070	C	G	18	50806700	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.85695601499009E-5	0.02
18	48333070	C	T	18	50806700	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.64049556566701E-4	0.046
18	48333071	T	A	18	50806701	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.976325768862058	0.738
18	48333071	T	C	18	50806701	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.393584627475753	0.354
18	48333071	T	G	18	50806701	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.966938358151248	0.764
18	48333072	A	C	18	50806702	y	y	splicing	MRO(NM_031939:exon5:c.246+2T>G;NM_001127176:exon4:c.288+2T>G;NM_001127175:exon4:c.288+2T>G;NM_001127174:exon4:c.246+2T>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.391+2T>G;ENST00000428869:exon6:c.246+2T>G;ENST00000431965:exon4:c.288+2T>G;ENST00000256425:exon5:c.246+2T>G;ENST00000588444:exon4:c.246+2T>G;ENST00000436348:exon4:c.288+2T>G;ENST00000398439:exon5:c.246+2T>G;ENST00000592966:exon4:c.246+2T>G;ENST00000590988:exon4:c.182+2T>G)	.	.	0.999951957019574	0.886
18	48333072	A	G	18	50806702	y	y	splicing	MRO(NM_031939:exon5:c.246+2T>C;NM_001127176:exon4:c.288+2T>C;NM_001127175:exon4:c.288+2T>C;NM_001127174:exon4:c.246+2T>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.391+2T>C;ENST00000428869:exon6:c.246+2T>C;ENST00000431965:exon4:c.288+2T>C;ENST00000256425:exon5:c.246+2T>C;ENST00000588444:exon4:c.246+2T>C;ENST00000436348:exon4:c.288+2T>C;ENST00000398439:exon5:c.246+2T>C;ENST00000592966:exon4:c.246+2T>C;ENST00000590988:exon4:c.182+2T>C)	.	.	0.964998130718857	0.554
18	48333072	A	T	18	50806702	y	y	splicing	MRO(NM_031939:exon5:c.246+2T>A;NM_001127176:exon4:c.288+2T>A;NM_001127175:exon4:c.288+2T>A;NM_001127174:exon4:c.246+2T>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.391+2T>A;ENST00000428869:exon6:c.246+2T>A;ENST00000431965:exon4:c.288+2T>A;ENST00000256425:exon5:c.246+2T>A;ENST00000588444:exon4:c.246+2T>A;ENST00000436348:exon4:c.288+2T>A;ENST00000398439:exon5:c.246+2T>A;ENST00000592966:exon4:c.246+2T>A;ENST00000590988:exon4:c.182+2T>A)	.	.	0.999964896440643	0.934
18	48333073	C	A	18	50806703	y	y	splicing	MRO(NM_031939:exon5:c.246+1G>T;NM_001127176:exon4:c.288+1G>T;NM_001127175:exon4:c.288+1G>T;NM_001127174:exon4:c.246+1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.391+1G>T;ENST00000428869:exon6:c.246+1G>T;ENST00000431965:exon4:c.288+1G>T;ENST00000256425:exon5:c.246+1G>T;ENST00000588444:exon4:c.246+1G>T;ENST00000436348:exon4:c.288+1G>T;ENST00000398439:exon5:c.246+1G>T;ENST00000592966:exon4:c.246+1G>T;ENST00000590988:exon4:c.182+1G>T)	.	.	0.999960200702261	0.934
18	48333073	C	G	18	50806703	y	y	splicing	MRO(NM_031939:exon5:c.246+1G>C;NM_001127176:exon4:c.288+1G>C;NM_001127175:exon4:c.288+1G>C;NM_001127174:exon4:c.246+1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.391+1G>C;ENST00000428869:exon6:c.246+1G>C;ENST00000431965:exon4:c.288+1G>C;ENST00000256425:exon5:c.246+1G>C;ENST00000588444:exon4:c.246+1G>C;ENST00000436348:exon4:c.288+1G>C;ENST00000398439:exon5:c.246+1G>C;ENST00000592966:exon4:c.246+1G>C;ENST00000590988:exon4:c.182+1G>C)	.	.	0.999958812450268	0.924
18	48333073	C	T	18	50806703	y	y	splicing	MRO(NM_031939:exon5:c.246+1G>A;NM_001127176:exon4:c.288+1G>A;NM_001127175:exon4:c.288+1G>A;NM_001127174:exon4:c.246+1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.391+1G>A;ENST00000428869:exon6:c.246+1G>A;ENST00000431965:exon4:c.288+1G>A;ENST00000256425:exon5:c.246+1G>A;ENST00000588444:exon4:c.246+1G>A;ENST00000436348:exon4:c.288+1G>A;ENST00000398439:exon5:c.246+1G>A;ENST00000592966:exon4:c.246+1G>A;ENST00000590988:exon4:c.182+1G>A)	.	.	0.999960200702261	0.936
18	48333074	C	A	18	50806704	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.G288T:p.K96N;MRO:NM_001127175:exon3:c.G288T:p.K96N;MRO:NM_001127174:exon3:c.G246T:p.K82N;MRO:NM_031939:exon4:c.G246T:p.K82N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.G288T:p.K96N;ENSG00000134042:ENST00000436348:exon3:c.G288T:p.K96N;ENSG00000134042:ENST00000256425:exon4:c.G246T:p.K82N;ENSG00000134042:ENST00000398439:exon4:c.G246T:p.K82N;ENSG00000134042:ENST00000428869:exon5:c.G246T:p.K82N;ENSG00000134042:ENST00000588444:exon3:c.G246T:p.K82N;ENSG00000134042:ENST00000592966:exon3:c.G246T:p.K82N;	0.999981444084676	0.992
18	48333074	C	G	18	50806704	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.G288C:p.K96N;MRO:NM_001127175:exon3:c.G288C:p.K96N;MRO:NM_001127174:exon3:c.G246C:p.K82N;MRO:NM_031939:exon4:c.G246C:p.K82N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.G288C:p.K96N;ENSG00000134042:ENST00000436348:exon3:c.G288C:p.K96N;ENSG00000134042:ENST00000256425:exon4:c.G246C:p.K82N;ENSG00000134042:ENST00000398439:exon4:c.G246C:p.K82N;ENSG00000134042:ENST00000428869:exon5:c.G246C:p.K82N;ENSG00000134042:ENST00000588444:exon3:c.G246C:p.K82N;ENSG00000134042:ENST00000592966:exon3:c.G246C:p.K82N;	0.999996018335335	0.998
18	48333074	C	T	18	50806704	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon3:c.G288A:p.K96K;MRO:NM_001127175:exon3:c.G288A:p.K96K;MRO:NM_001127174:exon3:c.G246A:p.K82K;MRO:NM_031939:exon4:c.G246A:p.K82K;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.G288A:p.K96K;ENSG00000134042:ENST00000436348:exon3:c.G288A:p.K96K;ENSG00000134042:ENST00000256425:exon4:c.G246A:p.K82K;ENSG00000134042:ENST00000398439:exon4:c.G246A:p.K82K;ENSG00000134042:ENST00000428869:exon5:c.G246A:p.K82K;ENSG00000134042:ENST00000588444:exon3:c.G246A:p.K82K;ENSG00000134042:ENST00000592966:exon3:c.G246A:p.K82K;	0.999765997125242	0.984
18	48333075	T	A	18	50806705	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.A287T:p.K96M;MRO:NM_001127175:exon3:c.A287T:p.K96M;MRO:NM_001127174:exon3:c.A245T:p.K82M;MRO:NM_031939:exon4:c.A245T:p.K82M;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.A287T:p.K96M;ENSG00000134042:ENST00000436348:exon3:c.A287T:p.K96M;ENSG00000134042:ENST00000256425:exon4:c.A245T:p.K82M;ENSG00000134042:ENST00000398439:exon4:c.A245T:p.K82M;ENSG00000134042:ENST00000428869:exon5:c.A245T:p.K82M;ENSG00000134042:ENST00000588444:exon3:c.A245T:p.K82M;ENSG00000134042:ENST00000592966:exon3:c.A245T:p.K82M;	0.999759445880692	0.992
18	48333075	T	C	18	50806705	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.A287G:p.K96R;MRO:NM_001127175:exon3:c.A287G:p.K96R;MRO:NM_001127174:exon3:c.A245G:p.K82R;MRO:NM_031939:exon4:c.A245G:p.K82R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.A287G:p.K96R;ENSG00000134042:ENST00000436348:exon3:c.A287G:p.K96R;ENSG00000134042:ENST00000256425:exon4:c.A245G:p.K82R;ENSG00000134042:ENST00000398439:exon4:c.A245G:p.K82R;ENSG00000134042:ENST00000428869:exon5:c.A245G:p.K82R;ENSG00000134042:ENST00000588444:exon3:c.A245G:p.K82R;ENSG00000134042:ENST00000592966:exon3:c.A245G:p.K82R;	0.999925284156266	0.994
18	48333075	T	G	18	50806705	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.A287C:p.K96T;MRO:NM_001127175:exon3:c.A287C:p.K96T;MRO:NM_001127174:exon3:c.A245C:p.K82T;MRO:NM_031939:exon4:c.A245C:p.K82T;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.A287C:p.K96T;ENSG00000134042:ENST00000436348:exon3:c.A287C:p.K96T;ENSG00000134042:ENST00000256425:exon4:c.A245C:p.K82T;ENSG00000134042:ENST00000398439:exon4:c.A245C:p.K82T;ENSG00000134042:ENST00000428869:exon5:c.A245C:p.K82T;ENSG00000134042:ENST00000588444:exon3:c.A245C:p.K82T;ENSG00000134042:ENST00000592966:exon3:c.A245C:p.K82T;	0.999665387225912	0.952
18	48333076	T	A	18	50806706	y	y	exonic	MRO	stopgain SNV	MRO:NM_001127176:exon3:c.A286T:p.K96X;MRO:NM_001127175:exon3:c.A286T:p.K96X;MRO:NM_001127174:exon3:c.A244T:p.K82X;MRO:NM_031939:exon4:c.A244T:p.K82X;	exonic	ENSG00000134042	stopgain SNV	ENSG00000134042:ENST00000431965:exon3:c.A286T:p.K96X;ENSG00000134042:ENST00000436348:exon3:c.A286T:p.K96X;ENSG00000134042:ENST00000256425:exon4:c.A244T:p.K82X;ENSG00000134042:ENST00000398439:exon4:c.A244T:p.K82X;ENSG00000134042:ENST00000428869:exon5:c.A244T:p.K82X;ENSG00000134042:ENST00000588444:exon3:c.A244T:p.K82X;ENSG00000134042:ENST00000592966:exon3:c.A244T:p.K82X;	0.0350916693280313	0.562
18	48333076	T	C	18	50806706	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.A286G:p.K96E;MRO:NM_001127175:exon3:c.A286G:p.K96E;MRO:NM_001127174:exon3:c.A244G:p.K82E;MRO:NM_031939:exon4:c.A244G:p.K82E;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.A286G:p.K96E;ENSG00000134042:ENST00000436348:exon3:c.A286G:p.K96E;ENSG00000134042:ENST00000256425:exon4:c.A244G:p.K82E;ENSG00000134042:ENST00000398439:exon4:c.A244G:p.K82E;ENSG00000134042:ENST00000428869:exon5:c.A244G:p.K82E;ENSG00000134042:ENST00000588444:exon3:c.A244G:p.K82E;ENSG00000134042:ENST00000592966:exon3:c.A244G:p.K82E;	3.22854002088142E-4	0.08
18	48333076	T	G	18	50806706	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.A286C:p.K96Q;MRO:NM_001127175:exon3:c.A286C:p.K96Q;MRO:NM_001127174:exon3:c.A244C:p.K82Q;MRO:NM_031939:exon4:c.A244C:p.K82Q;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.A286C:p.K96Q;ENSG00000134042:ENST00000436348:exon3:c.A286C:p.K96Q;ENSG00000134042:ENST00000256425:exon4:c.A244C:p.K82Q;ENSG00000134042:ENST00000398439:exon4:c.A244C:p.K82Q;ENSG00000134042:ENST00000428869:exon5:c.A244C:p.K82Q;ENSG00000134042:ENST00000588444:exon3:c.A244C:p.K82Q;ENSG00000134042:ENST00000592966:exon3:c.A244C:p.K82Q;	6.60695240107965E-5	0.006
18	48333219	A	C	18	50806849	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.T143G:p.V48G;MRO:NM_001127175:exon3:c.T143G:p.V48G;MRO:NM_001127174:exon3:c.T101G:p.V34G;MRO:NM_031939:exon4:c.T101G:p.V34G;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.T143G:p.V48G;ENSG00000134042:ENST00000436348:exon3:c.T143G:p.V48G;ENSG00000134042:ENST00000256425:exon4:c.T101G:p.V34G;ENSG00000134042:ENST00000398439:exon4:c.T101G:p.V34G;ENSG00000134042:ENST00000428869:exon5:c.T101G:p.V34G;ENSG00000134042:ENST00000588444:exon3:c.T101G:p.V34G;ENSG00000134042:ENST00000592966:exon3:c.T101G:p.V34G;	0.405147030993581	0.25
18	48333219	A	G	18	50806849	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.T143C:p.V48A;MRO:NM_001127175:exon3:c.T143C:p.V48A;MRO:NM_001127174:exon3:c.T101C:p.V34A;MRO:NM_031939:exon4:c.T101C:p.V34A;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.T143C:p.V48A;ENSG00000134042:ENST00000436348:exon3:c.T143C:p.V48A;ENSG00000134042:ENST00000256425:exon4:c.T101C:p.V34A;ENSG00000134042:ENST00000398439:exon4:c.T101C:p.V34A;ENSG00000134042:ENST00000428869:exon5:c.T101C:p.V34A;ENSG00000134042:ENST00000588444:exon3:c.T101C:p.V34A;ENSG00000134042:ENST00000592966:exon3:c.T101C:p.V34A;	0.365667503734067	0.302
18	48333219	A	T	18	50806849	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.T143A:p.V48D;MRO:NM_001127175:exon3:c.T143A:p.V48D;MRO:NM_001127174:exon3:c.T101A:p.V34D;MRO:NM_031939:exon4:c.T101A:p.V34D;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.T143A:p.V48D;ENSG00000134042:ENST00000436348:exon3:c.T143A:p.V48D;ENSG00000134042:ENST00000256425:exon4:c.T101A:p.V34D;ENSG00000134042:ENST00000398439:exon4:c.T101A:p.V34D;ENSG00000134042:ENST00000428869:exon5:c.T101A:p.V34D;ENSG00000134042:ENST00000588444:exon3:c.T101A:p.V34D;ENSG00000134042:ENST00000592966:exon3:c.T101A:p.V34D;	0.595483836044914	0.268
18	48333220	C	A	18	50806850	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.G142T:p.V48F;MRO:NM_001127175:exon3:c.G142T:p.V48F;MRO:NM_001127174:exon3:c.G100T:p.V34F;MRO:NM_031939:exon4:c.G100T:p.V34F;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.G142T:p.V48F;ENSG00000134042:ENST00000436348:exon3:c.G142T:p.V48F;ENSG00000134042:ENST00000256425:exon4:c.G100T:p.V34F;ENSG00000134042:ENST00000398439:exon4:c.G100T:p.V34F;ENSG00000134042:ENST00000428869:exon5:c.G100T:p.V34F;ENSG00000134042:ENST00000588444:exon3:c.G100T:p.V34F;ENSG00000134042:ENST00000585524:exon4:c.G245T:p.G82V;ENSG00000134042:ENST00000592966:exon3:c.G100T:p.V34F;	0.999264909239321	0.908
18	48333220	C	G	18	50806850	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.G142C:p.V48L;MRO:NM_001127175:exon3:c.G142C:p.V48L;MRO:NM_001127174:exon3:c.G100C:p.V34L;MRO:NM_031939:exon4:c.G100C:p.V34L;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.G142C:p.V48L;ENSG00000134042:ENST00000436348:exon3:c.G142C:p.V48L;ENSG00000134042:ENST00000256425:exon4:c.G100C:p.V34L;ENSG00000134042:ENST00000398439:exon4:c.G100C:p.V34L;ENSG00000134042:ENST00000428869:exon5:c.G100C:p.V34L;ENSG00000134042:ENST00000588444:exon3:c.G100C:p.V34L;ENSG00000134042:ENST00000585524:exon4:c.G245C:p.G82A;ENSG00000134042:ENST00000592966:exon3:c.G100C:p.V34L;	0.934712058298735	0.72
18	48333220	C	T	18	50806850	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon3:c.G142A:p.V48I;MRO:NM_001127175:exon3:c.G142A:p.V48I;MRO:NM_001127174:exon3:c.G100A:p.V34I;MRO:NM_031939:exon4:c.G100A:p.V34I;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon3:c.G142A:p.V48I;ENSG00000134042:ENST00000436348:exon3:c.G142A:p.V48I;ENSG00000134042:ENST00000256425:exon4:c.G100A:p.V34I;ENSG00000134042:ENST00000398439:exon4:c.G100A:p.V34I;ENSG00000134042:ENST00000428869:exon5:c.G100A:p.V34I;ENSG00000134042:ENST00000588444:exon3:c.G100A:p.V34I;ENSG00000134042:ENST00000585524:exon4:c.G245A:p.G82D;ENSG00000134042:ENST00000592966:exon3:c.G100A:p.V34I;	0.0655828266692569	0.35
18	48333221	C	A	18	50806851	y	y	splicing	MRO(NM_031939:exon5:c.100-1G>T;NM_001127176:exon4:c.142-1G>T;NM_001127175:exon4:c.142-1G>T;NM_001127174:exon4:c.100-1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.245-1G>T;ENST00000428869:exon6:c.100-1G>T;ENST00000431965:exon4:c.142-1G>T;ENST00000256425:exon5:c.100-1G>T;ENST00000588444:exon4:c.100-1G>T;ENST00000436348:exon4:c.142-1G>T;ENST00000398439:exon5:c.100-1G>T;ENST00000592966:exon4:c.100-1G>T)	.	.	0.999986675681007	0.924
18	48333221	C	G	18	50806851	y	y	splicing	MRO(NM_031939:exon5:c.100-1G>C;NM_001127176:exon4:c.142-1G>C;NM_001127175:exon4:c.142-1G>C;NM_001127174:exon4:c.100-1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.245-1G>C;ENST00000428869:exon6:c.100-1G>C;ENST00000431965:exon4:c.142-1G>C;ENST00000256425:exon5:c.100-1G>C;ENST00000588444:exon4:c.100-1G>C;ENST00000436348:exon4:c.142-1G>C;ENST00000398439:exon5:c.100-1G>C;ENST00000592966:exon4:c.100-1G>C)	.	.	0.999986675681007	0.924
18	48333221	C	T	18	50806851	y	y	splicing	MRO(NM_031939:exon5:c.100-1G>A;NM_001127176:exon4:c.142-1G>A;NM_001127175:exon4:c.142-1G>A;NM_001127174:exon4:c.100-1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.245-1G>A;ENST00000428869:exon6:c.100-1G>A;ENST00000431965:exon4:c.142-1G>A;ENST00000256425:exon5:c.100-1G>A;ENST00000588444:exon4:c.100-1G>A;ENST00000436348:exon4:c.142-1G>A;ENST00000398439:exon5:c.100-1G>A;ENST00000592966:exon4:c.100-1G>A)	.	.	0.999986675681007	0.924
18	48333222	T	A	18	50806852	y	y	splicing	MRO(NM_031939:exon5:c.100-2A>T;NM_001127176:exon4:c.142-2A>T;NM_001127175:exon4:c.142-2A>T;NM_001127174:exon4:c.100-2A>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.245-2A>T;ENST00000428869:exon6:c.100-2A>T;ENST00000431965:exon4:c.142-2A>T;ENST00000256425:exon5:c.100-2A>T;ENST00000588444:exon4:c.100-2A>T;ENST00000436348:exon4:c.142-2A>T;ENST00000398439:exon5:c.100-2A>T;ENST00000592966:exon4:c.100-2A>T)	.	.	0.999988247793601	0.92
18	48333222	T	C	18	50806852	y	y	splicing	MRO(NM_031939:exon5:c.100-2A>G;NM_001127176:exon4:c.142-2A>G;NM_001127175:exon4:c.142-2A>G;NM_001127174:exon4:c.100-2A>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.245-2A>G;ENST00000428869:exon6:c.100-2A>G;ENST00000431965:exon4:c.142-2A>G;ENST00000256425:exon5:c.100-2A>G;ENST00000588444:exon4:c.100-2A>G;ENST00000436348:exon4:c.142-2A>G;ENST00000398439:exon5:c.100-2A>G;ENST00000592966:exon4:c.100-2A>G)	.	.	0.999988247793601	0.92
18	48333222	T	G	18	50806852	y	y	splicing	MRO(NM_031939:exon5:c.100-2A>C;NM_001127176:exon4:c.142-2A>C;NM_001127175:exon4:c.142-2A>C;NM_001127174:exon4:c.100-2A>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon5:c.245-2A>C;ENST00000428869:exon6:c.100-2A>C;ENST00000431965:exon4:c.142-2A>C;ENST00000256425:exon5:c.100-2A>C;ENST00000588444:exon4:c.100-2A>C;ENST00000436348:exon4:c.142-2A>C;ENST00000398439:exon5:c.100-2A>C;ENST00000592966:exon4:c.100-2A>C)	.	.	0.999988247793601	0.92
18	48333223	G	A	18	50806853	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00105637555678823	0.088
18	48333223	G	C	18	50806853	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999959656675889	0.916
18	48333223	G	T	18	50806853	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.9727097840603	0.728
18	48333224	G	A	18	50806854	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.58570579280861E-4	0.042
18	48333224	G	C	18	50806854	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.00050579210417E-4	0.112
18	48333224	G	T	18	50806854	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.20677986143609E-4	0.014
18	48333225	G	A	18	50806855	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	4.37960926087098E-5	0.0
18	48333225	G	C	18	50806855	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999934275920831	0.916
18	48333225	G	T	18	50806855	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.7934337207335E-4	0.104
18	48333226	T	A	18	50806856	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.42848509237269E-4	0.034
18	48333226	T	C	18	50806856	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.9699723041992E-4	0.012
18	48333226	T	G	18	50806856	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.40842901148451E-4	0.052
18	48333227	G	A	18	50806857	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.01406249425324E-4	0.004
18	48333227	G	C	18	50806857	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00504837753379734	0.204
18	48333227	G	T	18	50806857	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0659015269976424	0.204
18	48333228	A	C	18	50806858	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999183284601883	0.91
18	48333228	A	G	18	50806858	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.29953115272188E-5	0.0
18	48333228	A	T	18	50806858	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00509859235201234	0.092
18	48333229	T	A	18	50806859	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.57164743818443E-5	0.012
18	48333229	T	C	18	50806859	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.12986433061175E-4	0.004
18	48333229	T	G	18	50806859	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.26050514563672E-5	0.004
18	48333230	G	A	18	50806860	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.73972914353597E-5	0.012
18	48333230	G	C	18	50806860	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.0147372415022E-4	0.062
18	48333230	G	T	18	50806860	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.74988025253065E-4	0.058
18	48333231	G	A	18	50806861	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.22812874971141E-5	0.008
18	48333231	G	C	18	50806861	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0400280868792834	0.138
18	48333231	G	T	18	50806861	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0151305825807315	0.084
18	48333232	G	A	18	50806862	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.3378224862859E-4	0.004
18	48333232	G	C	18	50806862	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999818982623384	0.964
18	48333232	G	T	18	50806862	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00301940459586543	0.034
18	48335664	T	A	18	50809294	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.14656354099398E-5	0.0
18	48335664	T	C	18	50809294	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.79529326766482E-5	0.0
18	48335664	T	G	18	50809294	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.79529326766482E-5	0.0
18	48335665	G	A	18	50809295	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.95416542160471E-5	0.01
18	48335665	G	C	18	50809295	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.55472960422104E-5	0.002
18	48335665	G	T	18	50809295	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.55472960422104E-5	0.002
18	48335666	T	A	18	50809296	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.13324429737708E-4	0.026
18	48335666	T	C	18	50809296	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.13324429737708E-4	0.01
18	48335666	T	G	18	50809296	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.13324429737708E-4	0.008
18	48335667	C	A	18	50809297	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.79792697849398E-4	0.006
18	48335667	C	G	18	50809297	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.76314105744779E-4	0.008
18	48335667	C	T	18	50809297	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00123558539255655	0.018
18	48335668	A	C	18	50809298	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.35500522259419E-4	0.014
18	48335668	A	G	18	50809298	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.35500522259419E-4	0.014
18	48335668	A	T	18	50809298	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.04375917686578E-4	0.014
18	48335669	G	A	18	50809299	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.85393371447899E-4	0.006
18	48335669	G	C	18	50809299	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.04353650666994E-4	0.006
18	48335669	G	T	18	50809299	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.04353650666994E-4	0.02
18	48335670	A	C	18	50809300	y	y	splicing	MRO(NM_031939:exon4:c.99+2T>G;NM_001127174:exon3:c.99+2T>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.244+2T>G;ENST00000428869:exon5:c.99+2T>G;ENST00000256425:exon4:c.99+2T>G;ENST00000588444:exon3:c.99+2T>G;ENST00000398439:exon4:c.99+2T>G;ENST00000592966:exon3:c.99+2T>G;ENST00000590988:exon3:c.99+2T>G)	.	.	0.872388596894594	0.79
18	48335670	A	G	18	50809300	y	y	splicing	MRO(NM_031939:exon4:c.99+2T>C;NM_001127174:exon3:c.99+2T>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.244+2T>C;ENST00000428869:exon5:c.99+2T>C;ENST00000256425:exon4:c.99+2T>C;ENST00000588444:exon3:c.99+2T>C;ENST00000398439:exon4:c.99+2T>C;ENST00000592966:exon3:c.99+2T>C;ENST00000590988:exon3:c.99+2T>C)	.	.	0.872388596894594	0.778
18	48335670	A	T	18	50809300	y	y	splicing	MRO(NM_031939:exon4:c.99+2T>A;NM_001127174:exon3:c.99+2T>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.244+2T>A;ENST00000428869:exon5:c.99+2T>A;ENST00000256425:exon4:c.99+2T>A;ENST00000588444:exon3:c.99+2T>A;ENST00000398439:exon4:c.99+2T>A;ENST00000592966:exon3:c.99+2T>A;ENST00000590988:exon3:c.99+2T>A)	.	.	0.872388596894594	0.784
18	48335671	C	A	18	50809301	y	y	splicing	MRO(NM_031939:exon4:c.99+1G>T;NM_001127174:exon3:c.99+1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.244+1G>T;ENST00000428869:exon5:c.99+1G>T;ENST00000256425:exon4:c.99+1G>T;ENST00000588444:exon3:c.99+1G>T;ENST00000398439:exon4:c.99+1G>T;ENST00000592966:exon3:c.99+1G>T;ENST00000590988:exon3:c.99+1G>T)	.	.	0.017226405617084	0.168
18	48335671	C	G	18	50809301	y	y	splicing	MRO(NM_031939:exon4:c.99+1G>C;NM_001127174:exon3:c.99+1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.244+1G>C;ENST00000428869:exon5:c.99+1G>C;ENST00000256425:exon4:c.99+1G>C;ENST00000588444:exon3:c.99+1G>C;ENST00000398439:exon4:c.99+1G>C;ENST00000592966:exon3:c.99+1G>C;ENST00000590988:exon3:c.99+1G>C)	.	.	0.0153286185048163	0.15
18	48335671	C	T	18	50809301	y	y	splicing	MRO(NM_031939:exon4:c.99+1G>A;NM_001127174:exon3:c.99+1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.244+1G>A;ENST00000428869:exon5:c.99+1G>A;ENST00000256425:exon4:c.99+1G>A;ENST00000588444:exon3:c.99+1G>A;ENST00000398439:exon4:c.99+1G>A;ENST00000592966:exon3:c.99+1G>A;ENST00000590988:exon3:c.99+1G>A)	.	.	0.017226405617084	0.212
18	48335672	C	A	18	50809302	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127174:exon2:c.G99T:p.K33N;MRO:NM_031939:exon3:c.G99T:p.K33N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000256425:exon3:c.G99T:p.K33N;ENSG00000134042:ENST00000398439:exon3:c.G99T:p.K33N;ENSG00000134042:ENST00000428869:exon4:c.G99T:p.K33N;ENSG00000134042:ENST00000588444:exon2:c.G99T:p.K33N;ENSG00000134042:ENST00000590988:exon2:c.G99T:p.K33N;ENSG00000134042:ENST00000585524:exon3:c.G244T:p.G82C;ENSG00000134042:ENST00000592966:exon2:c.G99T:p.K33N;	0.136696256956586	0.474
18	48335672	C	G	18	50809302	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127174:exon2:c.G99C:p.K33N;MRO:NM_031939:exon3:c.G99C:p.K33N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000256425:exon3:c.G99C:p.K33N;ENSG00000134042:ENST00000398439:exon3:c.G99C:p.K33N;ENSG00000134042:ENST00000428869:exon4:c.G99C:p.K33N;ENSG00000134042:ENST00000588444:exon2:c.G99C:p.K33N;ENSG00000134042:ENST00000590988:exon2:c.G99C:p.K33N;ENSG00000134042:ENST00000585524:exon3:c.G244C:p.G82R;ENSG00000134042:ENST00000592966:exon2:c.G99C:p.K33N;	0.136696256956586	0.468
18	48335672	C	T	18	50809302	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127174:exon2:c.G99A:p.K33K;MRO:NM_031939:exon3:c.G99A:p.K33K;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000585524:exon3:c.G244A:p.G82S;	0.0244474410587017	0.13
18	48335673	T	A	18	50809303	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127174:exon2:c.A98T:p.K33M;MRO:NM_031939:exon3:c.A98T:p.K33M;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000256425:exon3:c.A98T:p.K33M;ENSG00000134042:ENST00000398439:exon3:c.A98T:p.K33M;ENSG00000134042:ENST00000428869:exon4:c.A98T:p.K33M;ENSG00000134042:ENST00000588444:exon2:c.A98T:p.K33M;ENSG00000134042:ENST00000590988:exon2:c.A98T:p.K33M;ENSG00000134042:ENST00000585524:exon3:c.A243T:p.Q81H;ENSG00000134042:ENST00000592966:exon2:c.A98T:p.K33M;	0.870569775712183	0.81
18	48335673	T	C	18	50809303	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127174:exon2:c.A98G:p.K33R;MRO:NM_031939:exon3:c.A98G:p.K33R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000256425:exon3:c.A98G:p.K33R;ENSG00000134042:ENST00000398439:exon3:c.A98G:p.K33R;ENSG00000134042:ENST00000428869:exon4:c.A98G:p.K33R;ENSG00000134042:ENST00000588444:exon2:c.A98G:p.K33R;ENSG00000134042:ENST00000590988:exon2:c.A98G:p.K33R;ENSG00000134042:ENST00000592966:exon2:c.A98G:p.K33R;	0.857675228670556	0.842
18	48335673	T	G	18	50809303	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127174:exon2:c.A98C:p.K33T;MRO:NM_031939:exon3:c.A98C:p.K33T;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000256425:exon3:c.A98C:p.K33T;ENSG00000134042:ENST00000398439:exon3:c.A98C:p.K33T;ENSG00000134042:ENST00000428869:exon4:c.A98C:p.K33T;ENSG00000134042:ENST00000588444:exon2:c.A98C:p.K33T;ENSG00000134042:ENST00000590988:exon2:c.A98C:p.K33T;ENSG00000134042:ENST00000585524:exon3:c.A243C:p.Q81H;ENSG00000134042:ENST00000592966:exon2:c.A98C:p.K33T;	0.872388596894594	0.806
18	48335674	T	A	18	50809304	y	y	exonic	MRO	stopgain SNV	MRO:NM_001127174:exon2:c.A97T:p.K33X;MRO:NM_031939:exon3:c.A97T:p.K33X;	exonic	ENSG00000134042	stopgain SNV	ENSG00000134042:ENST00000256425:exon3:c.A97T:p.K33X;ENSG00000134042:ENST00000398439:exon3:c.A97T:p.K33X;ENSG00000134042:ENST00000428869:exon4:c.A97T:p.K33X;ENSG00000134042:ENST00000588444:exon2:c.A97T:p.K33X;ENSG00000134042:ENST00000590988:exon2:c.A97T:p.K33X;ENSG00000134042:ENST00000592966:exon2:c.A97T:p.K33X;	0.8948488376919	0.894
18	48335674	T	C	18	50809304	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127174:exon2:c.A97G:p.K33E;MRO:NM_031939:exon3:c.A97G:p.K33E;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000256425:exon3:c.A97G:p.K33E;ENSG00000134042:ENST00000398439:exon3:c.A97G:p.K33E;ENSG00000134042:ENST00000428869:exon4:c.A97G:p.K33E;ENSG00000134042:ENST00000588444:exon2:c.A97G:p.K33E;ENSG00000134042:ENST00000590988:exon2:c.A97G:p.K33E;ENSG00000134042:ENST00000585524:exon3:c.A242G:p.Q81R;ENSG00000134042:ENST00000592966:exon2:c.A97G:p.K33E;	0.833878140466525	0.748
18	48335674	T	G	18	50809304	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127174:exon2:c.A97C:p.K33Q;MRO:NM_031939:exon3:c.A97C:p.K33Q;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000256425:exon3:c.A97C:p.K33Q;ENSG00000134042:ENST00000398439:exon3:c.A97C:p.K33Q;ENSG00000134042:ENST00000428869:exon4:c.A97C:p.K33Q;ENSG00000134042:ENST00000588444:exon2:c.A97C:p.K33Q;ENSG00000134042:ENST00000590988:exon2:c.A97C:p.K33Q;ENSG00000134042:ENST00000585524:exon3:c.A242C:p.Q81P;ENSG00000134042:ENST00000592966:exon2:c.A97C:p.K33Q;	0.255374117213338	0.48
18	48335773	A	C	18	50809403	y	y	UTR5	MRO	.	.	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000585524:exon3:c.T143G:p.F48C;	4.76357584838511E-5	0.012
18	48335773	A	G	18	50809403	y	y	UTR5	MRO	.	.	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000585524:exon3:c.T143C:p.F48S;	4.76357584838511E-5	0.012
18	48335773	A	T	18	50809403	y	y	UTR5	MRO	.	.	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000585524:exon3:c.T143A:p.F48Y;	4.76357584838511E-5	0.012
18	48335774	A	C	18	50809404	y	y	UTR5	MRO	.	.	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000585524:exon3:c.T142G:p.F48V;	3.31929338280547E-5	0.0
18	48335774	A	G	18	50809404	y	y	UTR5	MRO	.	.	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000585524:exon3:c.T142C:p.F48L;	3.31929338280547E-5	0.0
18	48335774	A	T	18	50809404	y	y	UTR5	MRO	.	.	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000585524:exon3:c.T142A:p.F48I;	3.31929338280547E-5	0.004
18	48335775	C	A	18	50809405	y	y	splicing	MRO	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.142-1G>T)	.	.	0.00165237287629178	0.02
18	48335775	C	G	18	50809405	y	y	splicing	MRO	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.142-1G>C)	.	.	0.00165237287629178	0.02
18	48335775	C	T	18	50809405	y	y	splicing	MRO	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.142-1G>A)	.	.	0.00219751257899389	0.02
18	48335776	T	A	18	50809406	y	y	splicing	MRO	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.142-2A>T)	.	.	0.00104620212631682	0.024
18	48335776	T	C	18	50809406	y	y	splicing	MRO	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.142-2A>G)	.	.	0.00104620212631682	0.024
18	48335776	T	G	18	50809406	y	y	splicing	MRO	.	.	splicing	ENSG00000134042(ENST00000585524:exon4:c.142-2A>C)	.	.	0.00104620212631682	0.024
18	48335777	A	C	18	50809407	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.89861551796331E-5	0.01
18	48335777	A	G	18	50809407	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.99153316237132E-5	0.0
18	48335777	A	T	18	50809407	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.99153316237132E-5	0.0
18	48335778	A	C	18	50809408	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.96876519115191E-5	0.004
18	48335778	A	G	18	50809408	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.96876519115191E-5	0.004
18	48335778	A	T	18	50809408	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.96876519115191E-5	0.004
18	48335779	A	C	18	50809409	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.49910570311912E-5	0.036
18	48335779	A	G	18	50809409	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.49910570311912E-5	0.036
18	48335779	A	T	18	50809409	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.49910570311912E-5	0.036
18	48335780	A	C	18	50809410	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.59156195411578E-5	0.042
18	48335780	A	G	18	50809410	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.59156195411578E-5	0.042
18	48335780	A	T	18	50809410	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.59156195411578E-5	0.066
18	48335781	A	C	18	50809411	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.96532199348666E-5	0.076
18	48335781	A	G	18	50809411	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.96532199348666E-5	0.034
18	48335781	A	T	18	50809411	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.16657811451597E-5	0.004
18	48335782	C	A	18	50809412	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.37812133402739E-5	0.008
18	48335782	C	G	18	50809412	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.37812133402739E-5	0.008
18	48335782	C	T	18	50809412	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.37812133402739E-5	0.022
18	48335783	A	C	18	50809413	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.19654958573966E-5	0.02
18	48335783	A	G	18	50809413	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.19654958573966E-5	0.022
18	48335783	A	T	18	50809413	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.57123356397867E-5	0.016
18	48335784	A	C	18	50809414	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.19654958573966E-5	0.02
18	48335784	A	G	18	50809414	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.19654958573966E-5	0.02
18	48335784	A	T	18	50809414	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.19654958573966E-5	0.022
18	48335785	A	C	18	50809415	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.19654958573966E-5	0.018
18	48335785	A	G	18	50809415	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.19654958573966E-5	0.018
18	48335785	A	T	18	50809415	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.19654958573966E-5	0.018
18	48335786	A	C	18	50809416	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.82309039396057E-5	0.022
18	48335786	A	G	18	50809416	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.82309039396057E-5	0.022
18	48335786	A	T	18	50809416	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.82309039396057E-5	0.022
18	48342486	C	A	18	50816116	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.15941453541388E-5	0.002
18	48342486	C	G	18	50816116	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.15941453541388E-5	0.002
18	48342486	C	T	18	50816116	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.15941453541388E-5	0.0
18	48342487	A	C	18	50816117	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342487	A	G	18	50816117	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342487	A	T	18	50816117	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342488	A	C	18	50816118	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.35428655471156E-5	0.0
18	48342488	A	G	18	50816118	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.35428655471156E-5	0.0
18	48342488	A	T	18	50816118	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.01315188657279E-5	0.0
18	48342489	G	A	18	50816119	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.11389651227104E-4	0.0
18	48342489	G	C	18	50816119	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.00925306948278E-4	0.0
18	48342489	G	T	18	50816119	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.00925306948278E-4	0.0
18	48342490	T	A	18	50816120	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.02308677445932E-4	0.006
18	48342490	T	C	18	50816120	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342490	T	G	18	50816120	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342491	T	A	18	50816121	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.9188670368541E-4	0.006
18	48342491	T	C	18	50816121	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342491	T	G	18	50816121	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342492	A	C	18	50816122	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342492	A	G	18	50816122	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342492	A	T	18	50816122	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	2.02308677445932E-4	0.006
18	48342493	C	A	18	50816123	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	1.4076558401562E-4	0.008
18	48342493	C	G	18	50816123	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	1.4076558401562E-4	0.008
18	48342493	C	T	18	50816123	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	1.4076558401562E-4	0.008
18	48342494	C	A	18	50816124	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	6.35428655471156E-5	0.004
18	48342494	C	G	18	50816124	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	8.49702646665041E-5	0.092
18	48342494	C	T	18	50816124	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	6.35428655471156E-5	0.002
18	48342495	T	A	18	50816125	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	2.9188670368541E-4	0.006
18	48342495	T	C	18	50816125	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342495	T	G	18	50816125	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342496	T	A	18	50816126	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	2.9188670368541E-4	0.006
18	48342496	T	C	18	50816126	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342496	T	G	18	50816126	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342531	A	C	18	50816161	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342531	A	G	18	50816161	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342531	A	T	18	50816161	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342532	T	A	18	50816162	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342532	T	C	18	50816162	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342532	T	G	18	50816162	n	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342533	C	A	18	50816163	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	3.08739841361144E-4	0.008
18	48342533	C	G	18	50816163	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	3.08739841361144E-4	0.01
18	48342533	C	T	18	50816163	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	3.08739841361144E-4	0.008
18	48342534	T	A	18	50816164	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342534	T	C	18	50816164	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342534	T	G	18	50816164	n	y	intronic	MRO	.	.	splicing	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342535	G	A	18	50816165	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.01
18	48342535	G	C	18	50816165	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.69884688945688E-4	0.01
18	48342535	G	T	18	50816165	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.69884688945688E-4	0.014
18	48342536	C	A	18	50816166	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.008
18	48342536	C	G	18	50816166	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.01
18	48342536	C	T	18	50816166	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.008
18	48342537	C	A	18	50816167	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.008
18	48342537	C	G	18	50816167	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.01
18	48342537	C	T	18	50816167	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.008
18	48342538	A	C	18	50816168	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342538	A	G	18	50816168	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342538	A	T	18	50816168	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342539	C	A	18	50816169	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.36681691224865E-5	0.002
18	48342539	C	G	18	50816169	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.36681691224865E-5	0.002
18	48342539	C	T	18	50816169	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.94615721382208E-5	0.002
18	48342540	G	A	18	50816170	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.49702646665041E-5	0.006
18	48342540	G	C	18	50816170	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.49702646665041E-5	0.004
18	48342540	G	T	18	50816170	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.49702646665041E-5	0.004
18	48342541	G	A	18	50816171	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.008
18	48342541	G	C	18	50816171	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.01
18	48342541	G	T	18	50816171	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.008
18	48342542	A	C	18	50816172	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.006
18	48342542	A	G	18	50816172	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.08739841361144E-4	0.006
18	48342542	A	T	18	50816172	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342543	A	C	18	50816173	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342543	A	G	18	50816173	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.006
18	48342543	A	T	18	50816173	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.9188670368541E-4	0.008
18	48342544	G	A	18	50816174	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.008
18	48342544	G	C	18	50816174	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.008
18	48342544	G	T	18	50816174	n	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.4076558401562E-4	0.008
18	48345943	T	A	18	50819573	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.39083642728588E-5	0.002
18	48345943	T	C	18	50819573	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.48078102164051E-5	0.002
18	48345943	T	G	18	50819573	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.86724660495047E-5	0.0
18	48345944	C	A	18	50819574	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.18111881468629E-4	0.0
18	48345944	C	G	18	50819574	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.66319213704038E-5	0.0
18	48345944	C	T	18	50819574	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.26659861526494E-4	0.0
18	48345945	C	A	18	50819575	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	8.07327180259077E-5	0.002
18	48345945	C	G	18	50819575	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.08919886838428E-4	0.054
18	48345945	C	T	18	50819575	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.05455182487002E-4	0.012
18	48345946	C	A	18	50819576	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.705141977617287	0.492
18	48345946	C	G	18	50819576	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.392625793458565	0.48
18	48345946	C	T	18	50819576	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.890880136720972	0.566
18	48345947	T	A	18	50819577	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.992544524003631	0.824
18	48345947	T	C	18	50819577	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.995561391417104	0.85
18	48345947	T	G	18	50819577	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.986056869908912	0.812
18	48345948	T	A	18	50819578	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.994961604852464	0.864
18	48345948	T	C	18	50819578	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.0311239621867658	0.268
18	48345948	T	G	18	50819578	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.996536347433157	0.866
18	48345949	A	C	18	50819579	y	y	splicing	MRO(NM_001127176:exon3:c.141+2T>G;NM_001127175:exon3:c.141+2T>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.141+2T>G;ENST00000431965:exon3:c.141+2T>G;ENST00000436348:exon3:c.141+2T>G)	.	.	0.99996947050243	0.878
18	48345949	A	G	18	50819579	y	y	splicing	MRO(NM_001127176:exon3:c.141+2T>C;NM_001127175:exon3:c.141+2T>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.141+2T>C;ENST00000431965:exon3:c.141+2T>C;ENST00000436348:exon3:c.141+2T>C)	.	.	0.989288394510569	0.572
18	48345949	A	T	18	50819579	y	y	splicing	MRO(NM_001127176:exon3:c.141+2T>A;NM_001127175:exon3:c.141+2T>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.141+2T>A;ENST00000431965:exon3:c.141+2T>A;ENST00000436348:exon3:c.141+2T>A)	.	.	0.99996947050243	0.876
18	48345950	C	A	18	50819580	y	y	splicing	MRO(NM_001127176:exon3:c.141+1G>T;NM_001127175:exon3:c.141+1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.141+1G>T;ENST00000431965:exon3:c.141+1G>T;ENST00000436348:exon3:c.141+1G>T)	.	.	0.999988568935494	0.93
18	48345950	C	G	18	50819580	y	y	splicing	MRO(NM_001127176:exon3:c.141+1G>C;NM_001127175:exon3:c.141+1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.141+1G>C;ENST00000431965:exon3:c.141+1G>C;ENST00000436348:exon3:c.141+1G>C)	.	.	0.999988568935494	0.93
18	48345950	C	T	18	50819580	y	y	splicing	MRO(NM_001127176:exon3:c.141+1G>A;NM_001127175:exon3:c.141+1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.141+1G>A;ENST00000431965:exon3:c.141+1G>A;ENST00000436348:exon3:c.141+1G>A)	.	.	0.999988568935494	0.88
18	48345951	C	A	18	50819581	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.G141T:p.Q47H;MRO:NM_001127175:exon2:c.G141T:p.Q47H;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.G141T:p.Q47H;ENSG00000134042:ENST00000436348:exon2:c.G141T:p.Q47H;ENSG00000134042:ENST00000585524:exon2:c.G141T:p.Q47H;	0.999779947282551	0.848
18	48345951	C	G	18	50819581	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.G141C:p.Q47H;MRO:NM_001127175:exon2:c.G141C:p.Q47H;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.G141C:p.Q47H;ENSG00000134042:ENST00000436348:exon2:c.G141C:p.Q47H;ENSG00000134042:ENST00000585524:exon2:c.G141C:p.Q47H;	0.999333681556118	0.758
18	48345951	C	T	18	50819581	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon2:c.G141A:p.Q47Q;MRO:NM_001127175:exon2:c.G141A:p.Q47Q;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.G141A:p.Q47Q;ENSG00000134042:ENST00000436348:exon2:c.G141A:p.Q47Q;ENSG00000134042:ENST00000585524:exon2:c.G141A:p.Q47Q;	0.98070344588961	0.75
18	48345952	T	A	18	50819582	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.A140T:p.Q47L;MRO:NM_001127175:exon2:c.A140T:p.Q47L;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.A140T:p.Q47L;ENSG00000134042:ENST00000436348:exon2:c.A140T:p.Q47L;ENSG00000134042:ENST00000585524:exon2:c.A140T:p.Q47L;	0.805018559827072	0.528
18	48345952	T	C	18	50819582	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.A140G:p.Q47R;MRO:NM_001127175:exon2:c.A140G:p.Q47R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.A140G:p.Q47R;ENSG00000134042:ENST00000436348:exon2:c.A140G:p.Q47R;ENSG00000134042:ENST00000585524:exon2:c.A140G:p.Q47R;	0.33814155852946	0.544
18	48345952	T	G	18	50819582	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.A140C:p.Q47P;MRO:NM_001127175:exon2:c.A140C:p.Q47P;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.A140C:p.Q47P;ENSG00000134042:ENST00000436348:exon2:c.A140C:p.Q47P;ENSG00000134042:ENST00000585524:exon2:c.A140C:p.Q47P;	0.147156062550641	0.534
18	48345953	G	A	18	50819583	y	y	exonic	MRO	stopgain SNV	MRO:NM_001127176:exon2:c.C139T:p.Q47X;MRO:NM_001127175:exon2:c.C139T:p.Q47X;	exonic	ENSG00000134042	stopgain SNV	ENSG00000134042:ENST00000431965:exon2:c.C139T:p.Q47X;ENSG00000134042:ENST00000436348:exon2:c.C139T:p.Q47X;ENSG00000134042:ENST00000585524:exon2:c.C139T:p.Q47X;	0.227039457821058	0.448
18	48345953	G	C	18	50819583	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.C139G:p.Q47E;MRO:NM_001127175:exon2:c.C139G:p.Q47E;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.C139G:p.Q47E;ENSG00000134042:ENST00000436348:exon2:c.C139G:p.Q47E;ENSG00000134042:ENST00000585524:exon2:c.C139G:p.Q47E;	0.00106823675397912	0.028
18	48345953	G	T	18	50819583	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.C139A:p.Q47K;MRO:NM_001127175:exon2:c.C139A:p.Q47K;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.C139A:p.Q47K;ENSG00000134042:ENST00000436348:exon2:c.C139A:p.Q47K;ENSG00000134042:ENST00000585524:exon2:c.C139A:p.Q47K;	3.85977213030882E-4	0.014
18	48346071	T	A	18	50819701	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon2:c.A21T:p.G7G;MRO:NM_001127175:exon2:c.A21T:p.G7G;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.A21T:p.G7G;ENSG00000134042:ENST00000436348:exon2:c.A21T:p.G7G;ENSG00000134042:ENST00000585524:exon2:c.A21T:p.G7G;	6.98459444566841E-4	0.0
18	48346071	T	C	18	50819701	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon2:c.A21G:p.G7G;MRO:NM_001127175:exon2:c.A21G:p.G7G;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.A21G:p.G7G;ENSG00000134042:ENST00000436348:exon2:c.A21G:p.G7G;ENSG00000134042:ENST00000585524:exon2:c.A21G:p.G7G;	6.05641818912533E-4	0.03
18	48346071	T	G	18	50819701	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon2:c.A21C:p.G7G;MRO:NM_001127175:exon2:c.A21C:p.G7G;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.A21C:p.G7G;ENSG00000134042:ENST00000436348:exon2:c.A21C:p.G7G;ENSG00000134042:ENST00000585524:exon2:c.A21C:p.G7G;	0.00127771792915266	0.05
18	48346072	C	A	18	50819702	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.G20T:p.G7V;MRO:NM_001127175:exon2:c.G20T:p.G7V;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.G20T:p.G7V;ENSG00000134042:ENST00000436348:exon2:c.G20T:p.G7V;ENSG00000134042:ENST00000585524:exon2:c.G20T:p.G7V;	0.996978221605092	0.772
18	48346072	C	G	18	50819702	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.G20C:p.G7A;MRO:NM_001127175:exon2:c.G20C:p.G7A;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.G20C:p.G7A;ENSG00000134042:ENST00000436348:exon2:c.G20C:p.G7A;ENSG00000134042:ENST00000585524:exon2:c.G20C:p.G7A;	0.97125962240528	0.712
18	48346072	C	T	18	50819702	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon2:c.G20A:p.G7E;MRO:NM_001127175:exon2:c.G20A:p.G7E;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon2:c.G20A:p.G7E;ENSG00000134042:ENST00000436348:exon2:c.G20A:p.G7E;ENSG00000134042:ENST00000585524:exon2:c.G20A:p.G7E;	0.408681461842175	0.404
18	48346073	C	A	18	50819703	y	y	splicing	MRO(NM_001127176:exon3:c.20-1G>T;NM_001127175:exon3:c.20-1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.20-1G>T;ENST00000431965:exon3:c.20-1G>T;ENST00000436348:exon3:c.20-1G>T)	.	.	0.999879354703452	0.876
18	48346073	C	G	18	50819703	y	y	splicing	MRO(NM_001127176:exon3:c.20-1G>C;NM_001127175:exon3:c.20-1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.20-1G>C;ENST00000431965:exon3:c.20-1G>C;ENST00000436348:exon3:c.20-1G>C)	.	.	0.999879354703452	0.856
18	48346073	C	T	18	50819703	y	y	splicing	MRO(NM_001127176:exon3:c.20-1G>A;NM_001127175:exon3:c.20-1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.20-1G>A;ENST00000431965:exon3:c.20-1G>A;ENST00000436348:exon3:c.20-1G>A)	.	.	0.99989073043726	0.882
18	48346074	T	A	18	50819704	y	y	splicing	MRO(NM_001127176:exon3:c.20-2A>T;NM_001127175:exon3:c.20-2A>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.20-2A>T;ENST00000431965:exon3:c.20-2A>T;ENST00000436348:exon3:c.20-2A>T)	.	.	0.999967305459904	0.946
18	48346074	T	C	18	50819704	y	y	splicing	MRO(NM_001127176:exon3:c.20-2A>G;NM_001127175:exon3:c.20-2A>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.20-2A>G;ENST00000431965:exon3:c.20-2A>G;ENST00000436348:exon3:c.20-2A>G)	.	.	0.999967305459904	0.938
18	48346074	T	G	18	50819704	y	y	splicing	MRO(NM_001127176:exon3:c.20-2A>C;NM_001127175:exon3:c.20-2A>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon3:c.20-2A>C;ENST00000431965:exon3:c.20-2A>C;ENST00000436348:exon3:c.20-2A>C)	.	.	0.999967305459904	0.938
18	48346075	A	C	18	50819705	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.670958794974378	0.582
18	48346075	A	G	18	50819705	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	6.50013891215793E-5	0.012
18	48346075	A	T	18	50819705	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.00502003371465701	0.264
18	48346076	A	C	18	50819706	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.00334026137600553	0.086
18	48346076	A	G	18	50819706	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	6.99898249828421E-5	0.008
18	48346076	A	T	18	50819706	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	2.51922546696318E-4	0.004
18	48346077	C	A	18	50819707	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.0010618613792894	0.082
18	48346077	C	G	18	50819707	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	6.83587170057857E-4	0.014
18	48346077	C	T	18	50819707	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.00256171111240793	0.022
18	48346078	A	C	18	50819708	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.999682487019876	0.898
18	48346078	A	G	18	50819708	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	2.50737377071137E-4	0.062
18	48346078	A	T	18	50819708	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.999784116121394	0.912
18	48346079	T	A	18	50819709	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	2.58515067876618E-5	0.014
18	48346079	T	C	18	50819709	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	2.73335975334341E-5	0.016
18	48346079	T	G	18	50819709	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	2.90441524825268E-5	0.016
18	48346080	A	C	18	50819710	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	6.81383259096902E-4	0.06
18	48346080	A	G	18	50819710	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	5.59045017758309E-6	0.0
18	48346080	A	T	18	50819710	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	7.61653227283134E-4	0.044
18	48346081	C	A	18	50819711	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	6.89083215600469E-5	0.03
18	48346081	C	G	18	50819711	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	7.74180465604946E-5	0.0
18	48346081	C	T	18	50819711	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.51718698077676E-4	0.018
18	48346082	A	C	18	50819712	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.257951208367763	0.412
18	48346082	A	G	18	50819712	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.00183209457280359	0.128
18	48346082	A	T	18	50819712	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.999835541829101	0.964
18	48346083	A	C	18	50819713	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.0566533282327637	0.438
18	48346083	A	G	18	50819713	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	3.64721168636566E-4	0.036
18	48346083	A	T	18	50819713	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	0.0483866740399453	0.392
18	48346084	G	A	18	50819714	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.49765605432157E-5	0.002
18	48346084	G	C	18	50819714	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	1.73105907299584E-4	0.044
18	48346084	G	T	18	50819714	y	y	intronic	MRO	.	.	UTR5	ENSG00000134042	.	.	2.1384062254052E-4	0.038
18	48346259	C	A	18	50819889	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.52881759733747E-5	0.002
18	48346259	C	G	18	50819889	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.19413821089626E-4	0.002
18	48346259	C	T	18	50819889	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.44537704952649E-4	0.002
18	48346260	T	A	18	50819890	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.25788420748545E-5	0.0
18	48346260	T	C	18	50819890	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.81159136363845E-5	0.0
18	48346260	T	G	18	50819890	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.22660495981372E-5	0.0
18	48346261	T	A	18	50819891	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.32130090888133E-4	0.126
18	48346261	T	C	18	50819891	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.89190998249639E-5	0.0
18	48346261	T	G	18	50819891	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.61996496405141E-4	0.04
18	48346262	G	A	18	50819892	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00515014379141503	0.094
18	48346262	G	C	18	50819892	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.84340868675985E-4	0.082
18	48346262	G	T	18	50819892	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.00134305346683752	0.068
18	48346263	C	A	18	50819893	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.8743270013424E-5	0.0
18	48346263	C	G	18	50819893	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.76881931423098E-5	0.03
18	48346263	C	T	18	50819893	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	6.60232466263543E-5	0.024
18	48346264	T	A	18	50819894	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999524061033604	0.914
18	48346264	T	C	18	50819894	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.921987061488899	0.57
18	48346264	T	G	18	50819894	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	0.999268459235819	0.86
18	48346265	A	C	18	50819895	y	y	splicing	MRO(NM_001127176:exon2:c.19+2T>G;NM_001127175:exon2:c.19+2T>G)	.	.	splicing	ENSG00000134042(ENST00000585524:exon2:c.19+2T>G;ENST00000431965:exon2:c.19+2T>G;ENST00000436348:exon2:c.19+2T>G)	.	.	0.999324480960621	0.622
18	48346265	A	G	18	50819895	y	y	splicing	MRO(NM_001127176:exon2:c.19+2T>C;NM_001127175:exon2:c.19+2T>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon2:c.19+2T>C;ENST00000431965:exon2:c.19+2T>C;ENST00000436348:exon2:c.19+2T>C)	.	.	0.210640416920855	0.474
18	48346265	A	T	18	50819895	y	y	splicing	MRO(NM_001127176:exon2:c.19+2T>A;NM_001127175:exon2:c.19+2T>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon2:c.19+2T>A;ENST00000431965:exon2:c.19+2T>A;ENST00000436348:exon2:c.19+2T>A)	.	.	0.999324480960621	0.624
18	48346266	C	A	18	50819896	y	y	splicing	MRO(NM_001127176:exon2:c.19+1G>T;NM_001127175:exon2:c.19+1G>T)	.	.	splicing	ENSG00000134042(ENST00000585524:exon2:c.19+1G>T;ENST00000431965:exon2:c.19+1G>T;ENST00000436348:exon2:c.19+1G>T)	.	.	0.999927182694724	0.766
18	48346266	C	G	18	50819896	y	y	splicing	MRO(NM_001127176:exon2:c.19+1G>C;NM_001127175:exon2:c.19+1G>C)	.	.	splicing	ENSG00000134042(ENST00000585524:exon2:c.19+1G>C;ENST00000431965:exon2:c.19+1G>C;ENST00000436348:exon2:c.19+1G>C)	.	.	0.999927182694724	0.766
18	48346266	C	T	18	50819896	y	y	splicing	MRO(NM_001127176:exon2:c.19+1G>A;NM_001127175:exon2:c.19+1G>A)	.	.	splicing	ENSG00000134042(ENST00000585524:exon2:c.19+1G>A;ENST00000431965:exon2:c.19+1G>A;ENST00000436348:exon2:c.19+1G>A)	.	.	0.999927182694724	0.766
18	48346267	C	A	18	50819897	y	y	exonic	MRO	stopgain SNV	MRO:NM_001127176:exon1:c.G19T:p.G7X;MRO:NM_001127175:exon1:c.G19T:p.G7X;	exonic	ENSG00000134042	stopgain SNV	ENSG00000134042:ENST00000431965:exon1:c.G19T:p.G7X;ENSG00000134042:ENST00000436348:exon1:c.G19T:p.G7X;ENSG00000134042:ENST00000585524:exon1:c.G19T:p.G7X;	0.999995937841934	0.986
18	48346267	C	G	18	50819897	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon1:c.G19C:p.G7R;MRO:NM_001127175:exon1:c.G19C:p.G7R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon1:c.G19C:p.G7R;ENSG00000134042:ENST00000436348:exon1:c.G19C:p.G7R;ENSG00000134042:ENST00000585524:exon1:c.G19C:p.G7R;	0.999994268607795	0.994
18	48346267	C	T	18	50819897	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon1:c.G19A:p.G7R;MRO:NM_001127175:exon1:c.G19A:p.G7R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon1:c.G19A:p.G7R;ENSG00000134042:ENST00000436348:exon1:c.G19A:p.G7R;ENSG00000134042:ENST00000585524:exon1:c.G19A:p.G7R;	0.999997056045413	0.996
18	48346268	T	A	18	50819898	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon1:c.A18T:p.K6N;MRO:NM_001127175:exon1:c.A18T:p.K6N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon1:c.A18T:p.K6N;ENSG00000134042:ENST00000436348:exon1:c.A18T:p.K6N;ENSG00000134042:ENST00000585524:exon1:c.A18T:p.K6N;	0.999031559093026	0.726
18	48346268	T	C	18	50819898	y	y	exonic	MRO	synonymous SNV	MRO:NM_001127176:exon1:c.A18G:p.K6K;MRO:NM_001127175:exon1:c.A18G:p.K6K;	exonic	ENSG00000134042	synonymous SNV	ENSG00000134042:ENST00000431965:exon1:c.A18G:p.K6K;ENSG00000134042:ENST00000436348:exon1:c.A18G:p.K6K;ENSG00000134042:ENST00000585524:exon1:c.A18G:p.K6K;	0.999829985239291	0.8
18	48346268	T	G	18	50819898	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon1:c.A18C:p.K6N;MRO:NM_001127175:exon1:c.A18C:p.K6N;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon1:c.A18C:p.K6N;ENSG00000134042:ENST00000436348:exon1:c.A18C:p.K6N;ENSG00000134042:ENST00000585524:exon1:c.A18C:p.K6N;	0.981325477978444	0.732
18	48346269	T	A	18	50819899	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon1:c.A17T:p.K6I;MRO:NM_001127175:exon1:c.A17T:p.K6I;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon1:c.A17T:p.K6I;ENSG00000134042:ENST00000436348:exon1:c.A17T:p.K6I;ENSG00000134042:ENST00000585524:exon1:c.A17T:p.K6I;	0.540405668606751	0.56
18	48346269	T	C	18	50819899	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon1:c.A17G:p.K6R;MRO:NM_001127175:exon1:c.A17G:p.K6R;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon1:c.A17G:p.K6R;ENSG00000134042:ENST00000436348:exon1:c.A17G:p.K6R;ENSG00000134042:ENST00000585524:exon1:c.A17G:p.K6R;	0.00417155466470075	0.154
18	48346269	T	G	18	50819899	y	y	exonic	MRO	nonsynonymous SNV	MRO:NM_001127176:exon1:c.A17C:p.K6T;MRO:NM_001127175:exon1:c.A17C:p.K6T;	exonic	ENSG00000134042	nonsynonymous SNV	ENSG00000134042:ENST00000431965:exon1:c.A17C:p.K6T;ENSG00000134042:ENST00000436348:exon1:c.A17C:p.K6T;ENSG00000134042:ENST00000585524:exon1:c.A17C:p.K6T;	5.20561232160065E-5	0.004
18	48351671	T	A	18	50825301	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	9.74046797087874E-5	0.0
18	48351671	T	C	18	50825301	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.62965044666173E-5	0.0
18	48351671	T	G	18	50825301	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	3.62965044666173E-5	0.0
18	48351672	G	A	18	50825302	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	7.48532405555758E-5	0.0
18	48351672	G	C	18	50825302	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.7106675465155E-5	0.0
18	48351672	G	T	18	50825302	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.7106675465155E-5	0.0
18	48351673	T	A	18	50825303	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	5.05808194911997E-5	0.0
18	48351673	T	C	18	50825303	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.43346443961288E-5	0.0
18	48351673	T	G	18	50825303	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	2.43346443961288E-5	0.0
18	48351674	C	A	18	50825304	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.80650664972837E-4	0.0
18	48351674	C	G	18	50825304	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.80650664972837E-4	0.0
18	48351674	C	T	18	50825304	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.80650664972837E-4	0.0
18	48351675	T	A	18	50825305	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.90729588515235E-5	0.004
18	48351675	T	C	18	50825305	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.90729588515235E-5	0.004
18	48351675	T	G	18	50825305	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.90729588515235E-5	0.004
18	48351676	T	A	18	50825306	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.06602690930623E-4	0.02
18	48351676	T	C	18	50825306	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.06602690930623E-4	0.02
18	48351676	T	G	18	50825306	y	y	intronic	MRO	.	.	intronic	ENSG00000134042	.	.	1.06602690930623E-4	0.02
18	48351677	A	C	18	50825307	y	y	splicing	MRO	.	.	splicing	ENSG00000134042	.	.	0.00194593705381886	0.03
18	48351677	A	G	18	50825307	y	y	splicing	MRO	.	.	splicing	ENSG00000134042	.	.	0.00194593705381886	0.032
18	48351677	A	T	18	50825307	y	y	splicing	MRO	.	.	splicing	ENSG00000134042	.	.	0.00230623835732895	0.03
18	48351678	C	A	18	50825308	y	y	splicing	MRO	.	.	splicing	ENSG00000134042	.	.	0.00337291445926674	0.012
18	48351678	C	G	18	50825308	y	y	splicing	MRO	.	.	splicing	ENSG00000134042	.	.	0.00337291445926674	0.01
18	48351678	C	T	18	50825308	y	y	splicing	MRO	.	.	splicing	ENSG00000134042	.	.	0.00445644144873983	0.012
18	48351679	C	A	18	50825309	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	0.00310468730915407	0.018
18	48351679	C	G	18	50825309	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	0.00310468730915407	0.02
18	48351679	C	T	18	50825309	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	0.0031381469889348	0.026
18	48351680	T	A	18	50825310	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	4.12689098276539E-4	0.004
18	48351680	T	C	18	50825310	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	2.93338122508907E-4	0.002
18	48351680	T	G	18	50825310	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	2.93338122508907E-4	0.002
18	48351681	G	A	18	50825311	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	3.35115461238441E-4	0.0
18	48351681	G	C	18	50825311	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	3.35115461238441E-4	0.0
18	48351681	G	T	18	50825311	y	y	UTR5	MRO	.	.	UTR5	ENSG00000134042	.	.	3.35115461238441E-4	0.0
18	48405676	C	A	18	50879306	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	6.99959833398461E-5	0.006
18	48405676	C	G	18	50879306	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	8.9461610698043E-5	0.012
18	48405676	C	T	18	50879306	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	6.64980679882558E-4	0.082
18	48405677	T	A	18	50879307	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	3.61532310260581E-5	0.088
18	48405677	T	C	18	50879307	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	3.61981442750265E-5	0.006
18	48405677	T	G	18	50879307	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	5.91894462654778E-5	0.006
18	48405678	G	A	18	50879308	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	0.99928449241272	0.972
18	48405678	G	C	18	50879308	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	0.999982717863115	0.972
18	48405678	G	T	18	50879308	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	0.999885350155103	0.98
18	48405679	G	A	18	50879309	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.999939583170295	0.936
18	48405679	G	C	18	50879309	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.999939583170295	0.928
18	48405679	G	T	18	50879309	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.999939583170295	0.934
18	48405680	T	A	18	50879310	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.999961168610083	0.934
18	48405680	T	C	18	50879310	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.999526848540876	0.892
18	48405680	T	G	18	50879310	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.999961168610083	0.93
18	48405681	A	C	18	50879311	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99698430377003	0.76
18	48405681	A	G	18	50879311	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00961624346175067	0.214
18	48405681	A	T	18	50879311	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998655829054726	0.884
18	48405682	A	C	18	50879312	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.695355024802346	0.386
18	48405682	A	G	18	50879312	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.864441904494225	0.546
18	48405682	A	T	18	50879312	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.957590574096642	0.604
18	48405683	G	A	18	50879313	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.993331862885134	0.76
18	48405683	G	C	18	50879313	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.98673047880381	0.702
18	48405683	G	T	18	50879313	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.981071832628355	0.668
18	48405684	G	A	18	50879314	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.65034685914932E-4	0.014
18	48405684	G	C	18	50879314	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.27051720917883E-4	0.044
18	48405684	G	T	18	50879314	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.45129101290872E-5	0.0
18	48405685	C	A	18	50879315	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.38511446188456E-4	0.002
18	48405685	C	G	18	50879315	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.54157523765129E-5	0.0
18	48405685	C	T	18	50879315	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.92633365063228E-5	0.0
18	48405686	C	A	18	50879316	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.33141600191487E-5	0.0
18	48405686	C	G	18	50879316	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.33141600191487E-5	0.0
18	48405686	C	T	18	50879316	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.33141600191487E-5	0.0
18	48422167	T	A	18	50895797	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.9596343538002	0.828
18	48422167	T	C	18	50895797	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.69394501697002E-5	0.004
18	48422167	T	G	18	50895797	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.78353962015409E-5	0.014
18	48422168	G	A	18	50895798	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.38896995851467E-5	0.012
18	48422168	G	C	18	50895798	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.89134421081773E-5	0.008
18	48422168	G	T	18	50895798	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.76567650741166E-5	0.006
18	48422169	T	A	18	50895799	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.51545868269578E-4	0.022
18	48422169	T	C	18	50895799	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.65259534214818E-5	0.004
18	48422169	T	G	18	50895799	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.06041783136989E-4	0.026
18	48422170	T	A	18	50895800	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00484921638442586	0.24
18	48422170	T	C	18	50895800	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00309714436284352	0.032
18	48422170	T	G	18	50895800	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00629733360096376	0.202
18	48422171	T	A	18	50895801	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.3469241844297E-4	0.05
18	48422171	T	C	18	50895801	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.6047164703871E-5	0.0
18	48422171	T	G	18	50895801	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.67908561663088E-5	0.034
18	48422172	T	A	18	50895802	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.95479377575627E-4	0.048
18	48422172	T	C	18	50895802	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.86289998181392E-4	0.0
18	48422172	T	G	18	50895802	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.30336721804137E-4	0.038
18	48422173	T	A	18	50895803	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.66838202955171E-4	0.052
18	48422173	T	C	18	50895803	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.34236726263889E-5	0.0
18	48422173	T	G	18	50895803	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.91517356540233E-4	0.138
18	48422174	C	A	18	50895804	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.9268732874321E-5	0.002
18	48422174	C	G	18	50895804	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.75045143013509E-5	0.012
18	48422174	C	T	18	50895804	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.69111457924288E-5	0.002
18	48422175	T	A	18	50895805	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.84676580232447E-5	0.0
18	48422175	T	C	18	50895805	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.56995685330492E-5	0.002
18	48422175	T	G	18	50895805	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.06578423544062E-4	0.0
18	48422176	C	A	18	50895806	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0290172804911147	0.438
18	48422176	C	G	18	50895806	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.994953799773646	0.816
18	48422176	C	T	18	50895806	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.16748421425991E-4	0.226
18	48422177	A	C	18	50895807	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.99994568797423	0.94
18	48422177	A	G	18	50895807	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.99994568797423	0.94
18	48422177	A	T	18	50895807	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.99994568797423	0.93
18	48422178	G	A	18	50895808	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.99995586615188	0.946
18	48422178	G	C	18	50895808	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.99995586615188	0.94
18	48422178	G	T	18	50895808	y	y	splicing	ME2	.	.	splicing	ENSG00000082212	.	.	0.99995586615188	0.926
18	48422179	G	A	18	50895809	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	0.0827999762604872	0.5
18	48422179	G	C	18	50895809	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	0.631388586770573	0.488
18	48422179	G	T	18	50895809	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	0.81675425485632	0.482
18	48422180	T	A	18	50895810	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	4.8716198041731E-4	0.02
18	48422180	T	C	18	50895810	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	2.51399053592789E-4	0.014
18	48422180	T	G	18	50895810	y	y	UTR5	ME2	.	.	UTR5	ENSG00000082212	.	.	2.35144633139703E-4	0.004
18	48422296	A	C	18	50895926	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon2:c.A106C:p.K36Q;ME2:NM_002396:exon2:c.A106C:p.K36Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon2:c.A106C:p.K36Q;ENSG00000082212:ENST00000321341:exon2:c.A106C:p.K36Q;	0.104940625955422	0.284
18	48422296	A	G	18	50895926	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon2:c.A106G:p.K36E;ME2:NM_002396:exon2:c.A106G:p.K36E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon2:c.A106G:p.K36E;ENSG00000082212:ENST00000321341:exon2:c.A106G:p.K36E;	0.667920844401766	0.504
18	48422296	A	T	18	50895926	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon2:c.A106T:p.K36X;ME2:NM_002396:exon2:c.A106T:p.K36X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon2:c.A106T:p.K36X;ENSG00000082212:ENST00000321341:exon2:c.A106T:p.K36X;	0.954584913942401	0.656
18	48422297	A	C	18	50895927	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon2:c.A107C:p.K36T;ME2:NM_002396:exon2:c.A107C:p.K36T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon2:c.A107C:p.K36T;ENSG00000082212:ENST00000321341:exon2:c.A107C:p.K36T;	0.996213247339641	0.93
18	48422297	A	G	18	50895927	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon2:c.A107G:p.K36R;ME2:NM_002396:exon2:c.A107G:p.K36R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon2:c.A107G:p.K36R;ENSG00000082212:ENST00000321341:exon2:c.A107G:p.K36R;	0.986229801210471	0.918
18	48422297	A	T	18	50895927	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon2:c.A107T:p.K36M;ME2:NM_002396:exon2:c.A107T:p.K36M;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon2:c.A107T:p.K36M;ENSG00000082212:ENST00000321341:exon2:c.A107T:p.K36M;	0.998201544602052	0.924
18	48422298	G	A	18	50895928	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon2:c.G108A:p.K36K;ME2:NM_002396:exon2:c.G108A:p.K36K;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon2:c.G108A:p.K36K;ENSG00000082212:ENST00000321341:exon2:c.G108A:p.K36K;	0.995191197512388	0.898
18	48422298	G	C	18	50895928	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon2:c.G108C:p.K36N;ME2:NM_002396:exon2:c.G108C:p.K36N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon2:c.G108C:p.K36N;ENSG00000082212:ENST00000321341:exon2:c.G108C:p.K36N;	0.999988587052572	0.994
18	48422298	G	T	18	50895928	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon2:c.G108T:p.K36N;ME2:NM_002396:exon2:c.G108T:p.K36N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon2:c.G108T:p.K36N;ENSG00000082212:ENST00000321341:exon2:c.G108T:p.K36N;	0.999954674755232	0.968
18	48422299	G	A	18	50895929	y	y	splicing	ME2(NM_001168335:exon2:c.108+1G>A;NM_002396:exon2:c.108+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon2:c.108+1G>A;ENST00000382927:exon2:c.108+1G>A)	.	.	0.999949496871441	0.942
18	48422299	G	C	18	50895929	y	y	splicing	ME2(NM_001168335:exon2:c.108+1G>C;NM_002396:exon2:c.108+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon2:c.108+1G>C;ENST00000382927:exon2:c.108+1G>C)	.	.	0.999949496871441	0.946
18	48422299	G	T	18	50895929	y	y	splicing	ME2(NM_001168335:exon2:c.108+1G>T;NM_002396:exon2:c.108+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon2:c.108+1G>T;ENST00000382927:exon2:c.108+1G>T)	.	.	0.999949496871441	0.942
18	48422300	T	A	18	50895930	y	y	splicing	ME2(NM_001168335:exon2:c.108+2T>A;NM_002396:exon2:c.108+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon2:c.108+2T>A;ENST00000382927:exon2:c.108+2T>A)	.	.	0.99992617752697	0.926
18	48422300	T	C	18	50895930	y	y	splicing	ME2(NM_001168335:exon2:c.108+2T>C;NM_002396:exon2:c.108+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon2:c.108+2T>C;ENST00000382927:exon2:c.108+2T>C)	.	.	0.964266768781391	0.514
18	48422300	T	G	18	50895930	y	y	splicing	ME2(NM_001168335:exon2:c.108+2T>G;NM_002396:exon2:c.108+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon2:c.108+2T>G;ENST00000382927:exon2:c.108+2T>G)	.	.	0.999896524849718	0.868
18	48422301	T	A	18	50895931	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.02682624980058E-4	0.072
18	48422301	T	C	18	50895931	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.81233088289036E-5	0.0
18	48422301	T	G	18	50895931	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.81078984791347E-4	0.076
18	48422302	A	C	18	50895932	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0225859735273326	0.236
18	48422302	A	G	18	50895932	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.055350898367178	0.268
18	48422302	A	T	18	50895932	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.017379400517222	0.188
18	48422303	G	A	18	50895933	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999626634113236	0.896
18	48422303	G	C	18	50895933	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999874522504947	0.902
18	48422303	G	T	18	50895933	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999672443394578	0.892
18	48422304	T	A	18	50895934	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.668767578212833	0.496
18	48422304	T	C	18	50895934	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.71096877337095	0.614
18	48422304	T	G	18	50895934	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.200852114964006	0.502
18	48422305	A	C	18	50895935	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.44406013375125E-6	0.0
18	48422305	A	G	18	50895935	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.94270416945936E-6	0.0
18	48422305	A	T	18	50895935	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.80710194573722E-6	0.0
18	48422306	A	C	18	50895936	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.91042603500598E-4	0.052
18	48422306	A	G	18	50895936	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.09562936375766E-4	0.014
18	48422306	A	T	18	50895936	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.91042603500598E-4	0.014
18	48434421	T	A	18	50908051	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00190596288990635	0.118
18	48434421	T	C	18	50908051	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.4066998303755E-4	0.016
18	48434421	T	G	18	50908051	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.28637613806814E-4	0.11
18	48434422	C	A	18	50908052	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.49417115310067E-4	0.018
18	48434422	C	G	18	50908052	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.8861363505472E-5	0.006
18	48434422	C	T	18	50908052	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.11708601943418E-5	0.0
18	48434423	T	A	18	50908053	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.73766319031531E-4	0.116
18	48434423	T	C	18	50908053	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.95165600937518E-5	0.002
18	48434423	T	G	18	50908053	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.61238476639094E-4	0.152
18	48434424	C	A	18	50908054	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.04328377276129E-4	0.044
18	48434424	C	G	18	50908054	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.29930538411034E-4	0.004
18	48434424	C	T	18	50908054	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.07223124076222E-5	0.006
18	48434425	C	A	18	50908055	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.15095796861694E-4	0.024
18	48434425	C	G	18	50908055	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.09386961674192E-4	0.022
18	48434425	C	T	18	50908055	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.03437165115372E-5	0.004
18	48434426	T	A	18	50908056	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.74393373353819E-5	0.02
18	48434426	T	C	18	50908056	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.41432771206662E-6	0.0
18	48434426	T	G	18	50908056	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.54988035113506E-5	0.018
18	48434427	C	A	18	50908057	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.60012316127607E-4	0.038
18	48434427	C	G	18	50908057	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.48365503647854E-5	0.03
18	48434427	C	T	18	50908057	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.61769409456155E-5	0.0
18	48434428	T	A	18	50908058	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0010530117585244	0.194
18	48434428	T	C	18	50908058	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.27470430110566E-5	0.008
18	48434428	T	G	18	50908058	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00102169692161355	0.196
18	48434429	T	A	18	50908059	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.00459548181092E-5	0.006
18	48434429	T	C	18	50908059	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.14857520443598E-5	0.0
18	48434429	T	G	18	50908059	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.37234101669059E-5	0.01
18	48434430	T	A	18	50908060	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00230848746795789	0.108
18	48434430	T	C	18	50908060	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.00245592267181E-4	0.004
18	48434430	T	G	18	50908060	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.965932470872625	0.668
18	48434431	A	C	18	50908061	y	y	splicing	ME2(NM_001168335:exon3:c.109-2A>C;NM_002396:exon3:c.109-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.109-2A>C;ENST00000382927:exon3:c.109-2A>C)	.	.	0.999988247793601	0.93
18	48434431	A	G	18	50908061	y	y	splicing	ME2(NM_001168335:exon3:c.109-2A>G;NM_002396:exon3:c.109-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.109-2A>G;ENST00000382927:exon3:c.109-2A>G)	.	.	0.999988247793601	0.93
18	48434431	A	T	18	50908061	y	y	splicing	ME2(NM_001168335:exon3:c.109-2A>T;NM_002396:exon3:c.109-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.109-2A>T;ENST00000382927:exon3:c.109-2A>T)	.	.	0.999988247793601	0.93
18	48434432	G	A	18	50908062	y	y	splicing	ME2(NM_001168335:exon3:c.109-1G>A;NM_002396:exon3:c.109-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.109-1G>A;ENST00000382927:exon3:c.109-1G>A)	.	.	0.999990361384395	0.938
18	48434432	G	C	18	50908062	y	y	splicing	ME2(NM_001168335:exon3:c.109-1G>C;NM_002396:exon3:c.109-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.109-1G>C;ENST00000382927:exon3:c.109-1G>C)	.	.	0.999990361384395	0.938
18	48434432	G	T	18	50908062	y	y	splicing	ME2(NM_001168335:exon3:c.109-1G>T;NM_002396:exon3:c.109-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.109-1G>T;ENST00000382927:exon3:c.109-1G>T)	.	.	0.999990361384395	0.938
18	48434433	G	A	18	50908063	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.G109A:p.G37R;ME2:NM_002396:exon3:c.G109A:p.G37R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.G109A:p.G37R;ENSG00000082212:ENST00000321341:exon3:c.G109A:p.G37R;	0.997491592392738	0.858
18	48434433	G	C	18	50908063	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.G109C:p.G37R;ME2:NM_002396:exon3:c.G109C:p.G37R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.G109C:p.G37R;ENSG00000082212:ENST00000321341:exon3:c.G109C:p.G37R;	0.998679113789491	0.894
18	48434433	G	T	18	50908063	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon3:c.G109T:p.G37X;ME2:NM_002396:exon3:c.G109T:p.G37X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon3:c.G109T:p.G37X;ENSG00000082212:ENST00000321341:exon3:c.G109T:p.G37X;	0.999278947186908	0.9
18	48434434	G	A	18	50908064	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.G110A:p.G37E;ME2:NM_002396:exon3:c.G110A:p.G37E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.G110A:p.G37E;ENSG00000082212:ENST00000321341:exon3:c.G110A:p.G37E;	0.987504571469837	0.874
18	48434434	G	C	18	50908064	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.G110C:p.G37A;ME2:NM_002396:exon3:c.G110C:p.G37A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.G110C:p.G37A;ENSG00000082212:ENST00000321341:exon3:c.G110C:p.G37A;	0.976047093709059	0.854
18	48434434	G	T	18	50908064	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.G110T:p.G37V;ME2:NM_002396:exon3:c.G110T:p.G37V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.G110T:p.G37V;ENSG00000082212:ENST00000321341:exon3:c.G110T:p.G37V;	0.971620369787554	0.898
18	48434564	A	C	18	50908194	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.A240C:p.E80D;ME2:NM_002396:exon3:c.A240C:p.E80D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.A240C:p.E80D;ENSG00000082212:ENST00000321341:exon3:c.A240C:p.E80D;	2.02762735160012E-4	0.0
18	48434564	A	G	18	50908194	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon3:c.A240G:p.E80E;ME2:NM_002396:exon3:c.A240G:p.E80E;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.A240G:p.E80E;ENSG00000082212:ENST00000321341:exon3:c.A240G:p.E80E;	0.0078262852914667	0.114
18	48434564	A	T	18	50908194	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.A240T:p.E80D;ME2:NM_002396:exon3:c.A240T:p.E80D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.A240T:p.E80D;ENSG00000082212:ENST00000321341:exon3:c.A240T:p.E80D;	0.109779092587617	0.434
18	48434565	A	C	18	50908195	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.A241C:p.K81Q;ME2:NM_002396:exon3:c.A241C:p.K81Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.A241C:p.K81Q;ENSG00000082212:ENST00000321341:exon3:c.A241C:p.K81Q;	0.999705250211262	0.986
18	48434565	A	G	18	50908195	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.A241G:p.K81E;ME2:NM_002396:exon3:c.A241G:p.K81E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.A241G:p.K81E;ENSG00000082212:ENST00000321341:exon3:c.A241G:p.K81E;	0.999853641809123	0.984
18	48434565	A	T	18	50908195	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon3:c.A241T:p.K81X;ME2:NM_002396:exon3:c.A241T:p.K81X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon3:c.A241T:p.K81X;ENSG00000082212:ENST00000321341:exon3:c.A241T:p.K81X;	0.99989602500991	0.99
18	48434566	A	C	18	50908196	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.A242C:p.K81T;ME2:NM_002396:exon3:c.A242C:p.K81T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.A242C:p.K81T;ENSG00000082212:ENST00000321341:exon3:c.A242C:p.K81T;	0.751392732499928	0.786
18	48434566	A	G	18	50908196	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.A242G:p.K81R;ME2:NM_002396:exon3:c.A242G:p.K81R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.A242G:p.K81R;ENSG00000082212:ENST00000321341:exon3:c.A242G:p.K81R;	3.82629596320009E-4	0.044
18	48434566	A	T	18	50908196	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon3:c.A242T:p.K81I;ME2:NM_002396:exon3:c.A242T:p.K81I;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon3:c.A242T:p.K81I;ENSG00000082212:ENST00000321341:exon3:c.A242T:p.K81I;	0.969414668485944	0.76
18	48434567	G	A	18	50908197	y	y	splicing	ME2(NM_001168335:exon3:c.242+1G>A;NM_002396:exon3:c.242+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.242+1G>A;ENST00000382927:exon3:c.242+1G>A)	.	.	0.999990361384395	0.938
18	48434567	G	C	18	50908197	y	y	splicing	ME2(NM_001168335:exon3:c.242+1G>C;NM_002396:exon3:c.242+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.242+1G>C;ENST00000382927:exon3:c.242+1G>C)	.	.	0.999990361384395	0.938
18	48434567	G	T	18	50908197	y	y	splicing	ME2(NM_001168335:exon3:c.242+1G>T;NM_002396:exon3:c.242+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.242+1G>T;ENST00000382927:exon3:c.242+1G>T)	.	.	0.999990361384395	0.938
18	48434568	T	A	18	50908198	y	y	splicing	ME2(NM_001168335:exon3:c.242+2T>A;NM_002396:exon3:c.242+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.242+2T>A;ENST00000382927:exon3:c.242+2T>A)	.	.	0.999988247793601	0.932
18	48434568	T	C	18	50908198	y	y	splicing	ME2(NM_001168335:exon3:c.242+2T>C;NM_002396:exon3:c.242+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.242+2T>C;ENST00000382927:exon3:c.242+2T>C)	.	.	0.995944345829671	0.72
18	48434568	T	G	18	50908198	y	y	splicing	ME2(NM_001168335:exon3:c.242+2T>G;NM_002396:exon3:c.242+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon3:c.242+2T>G;ENST00000382927:exon3:c.242+2T>G)	.	.	0.999988247793601	0.932
18	48434569	A	C	18	50908199	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999813883421677	0.926
18	48434569	A	G	18	50908199	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.981262135718764	0.61
18	48434569	A	T	18	50908199	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999835828445688	0.946
18	48434570	A	C	18	50908200	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.98613506390526	0.87
18	48434570	A	G	18	50908200	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998074942163944	0.914
18	48434570	A	T	18	50908200	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998209549106798	0.93
18	48434571	G	A	18	50908201	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999981963045962	0.996
18	48434571	G	C	18	50908201	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999985419169588	0.96
18	48434571	G	T	18	50908201	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999982489778049	0.928
18	48434572	A	C	18	50908202	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.20828427920465E-4	0.042
18	48434572	A	G	18	50908202	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.64601942912085E-5	0.0
18	48434572	A	T	18	50908202	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.55790577640772E-5	0.02
18	48434573	G	A	18	50908203	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.8103254964294E-5	0.002
18	48434573	G	C	18	50908203	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.74458565522611E-5	0.0
18	48434573	G	T	18	50908203	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.84374608626107E-4	0.01
18	48434574	T	A	18	50908204	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.67934156622874E-5	0.0
18	48434574	T	C	18	50908204	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.09789049603861E-5	0.0
18	48434574	T	G	18	50908204	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.22914874110545E-5	0.0
18	48439159	G	A	18	50912789	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00325551572106056	0.162
18	48439159	G	C	18	50912789	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.01211861314681E-4	0.008
18	48439159	G	T	18	50912789	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.39373024818589E-4	0.024
18	48439160	C	A	18	50912790	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00206565722759759	0.128
18	48439160	C	G	18	50912790	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00144667751004969	0.08
18	48439160	C	T	18	50912790	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.95260539398567E-4	0.004
18	48439161	T	A	18	50912791	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.667578896891802	0.692
18	48439161	T	C	18	50912791	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00357122263721424	0.08
18	48439161	T	G	18	50912791	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.725424792064096	0.66
18	48439162	T	A	18	50912792	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.245251430598284	0.498
18	48439162	T	C	18	50912792	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.23083077605641E-4	0.012
18	48439162	T	G	18	50912792	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.150485887788093	0.462
18	48439163	C	A	18	50912793	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.38084553287422E-4	0.016
18	48439163	C	G	18	50912793	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.35825334680557E-4	0.016
18	48439163	C	T	18	50912793	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.51204850009213E-5	0.038
18	48439164	A	C	18	50912794	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.24353149159902E-5	0.0
18	48439164	A	G	18	50912794	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.9875143561E-5	0.002
18	48439164	A	T	18	50912794	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.96951379013916E-5	0.002
18	48439165	T	A	18	50912795	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.650759551386744	0.47
18	48439165	T	C	18	50912795	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00283300175048657	0.08
18	48439165	T	G	18	50912795	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999754634050184	0.962
18	48439166	T	A	18	50912796	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.486905088333391	0.558
18	48439166	T	C	18	50912796	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0198753727859269	0.21
18	48439166	T	G	18	50912796	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.591219608541239	0.556
18	48439167	T	A	18	50912797	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.73485987864406E-5	0.0
18	48439167	T	C	18	50912797	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.00118697821832E-5	0.002
18	48439167	T	G	18	50912797	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.13004660386955E-5	0.0
18	48439168	C	A	18	50912798	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.997788235637336	0.778
18	48439168	C	G	18	50912798	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999862262894229	0.964
18	48439168	C	T	18	50912798	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.179477713950901	0.094
18	48439169	A	C	18	50912799	y	y	splicing	ME2(NM_001168335:exon4:c.243-2A>C;NM_002396:exon4:c.243-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.243-2A>C;ENST00000382927:exon4:c.243-2A>C)	.	.	0.999988247793601	0.932
18	48439169	A	G	18	50912799	y	y	splicing	ME2(NM_001168335:exon4:c.243-2A>G;NM_002396:exon4:c.243-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.243-2A>G;ENST00000382927:exon4:c.243-2A>G)	.	.	0.999988247793601	0.932
18	48439169	A	T	18	50912799	y	y	splicing	ME2(NM_001168335:exon4:c.243-2A>T;NM_002396:exon4:c.243-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.243-2A>T;ENST00000382927:exon4:c.243-2A>T)	.	.	0.999988247793601	0.932
18	48439170	G	A	18	50912800	y	y	splicing	ME2(NM_001168335:exon4:c.243-1G>A;NM_002396:exon4:c.243-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.243-1G>A;ENST00000382927:exon4:c.243-1G>A)	.	.	0.999990361384395	0.938
18	48439170	G	C	18	50912800	y	y	splicing	ME2(NM_001168335:exon4:c.243-1G>C;NM_002396:exon4:c.243-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.243-1G>C;ENST00000382927:exon4:c.243-1G>C)	.	.	0.999990361384395	0.938
18	48439170	G	T	18	50912800	y	y	splicing	ME2(NM_001168335:exon4:c.243-1G>T;NM_002396:exon4:c.243-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.243-1G>T;ENST00000382927:exon4:c.243-1G>T)	.	.	0.999990361384395	0.938
18	48439171	A	C	18	50912801	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.A243C:p.K81N;ME2:NM_002396:exon4:c.A243C:p.K81N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.A243C:p.K81N;ENSG00000082212:ENST00000321341:exon4:c.A243C:p.K81N;	0.00878085078362288	0.162
18	48439171	A	G	18	50912801	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon4:c.A243G:p.K81K;ME2:NM_002396:exon4:c.A243G:p.K81K;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.A243G:p.K81K;ENSG00000082212:ENST00000321341:exon4:c.A243G:p.K81K;	6.79578228763282E-5	0.0
18	48439171	A	T	18	50912801	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.A243T:p.K81N;ME2:NM_002396:exon4:c.A243T:p.K81N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.A243T:p.K81N;ENSG00000082212:ENST00000321341:exon4:c.A243T:p.K81N;	0.00817208185490347	0.136
18	48439172	T	A	18	50912802	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.T244A:p.Y82N;ME2:NM_002396:exon4:c.T244A:p.Y82N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.T244A:p.Y82N;ENSG00000082212:ENST00000321341:exon4:c.T244A:p.Y82N;	0.453568649449214	0.61
18	48439172	T	C	18	50912802	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.T244C:p.Y82H;ME2:NM_002396:exon4:c.T244C:p.Y82H;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.T244C:p.Y82H;ENSG00000082212:ENST00000321341:exon4:c.T244C:p.Y82H;	0.492060498632091	0.622
18	48439172	T	G	18	50912802	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.T244G:p.Y82D;ME2:NM_002396:exon4:c.T244G:p.Y82D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.T244G:p.Y82D;ENSG00000082212:ENST00000321341:exon4:c.T244G:p.Y82D;	0.440829716268871	0.612
18	48439318	T	A	18	50912948	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon4:c.T390A:p.P130P;ME2:NM_002396:exon4:c.T390A:p.P130P;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.T390A:p.P130P;ENSG00000082212:ENST00000321341:exon4:c.T390A:p.P130P;	3.98374527204792E-5	0.056
18	48439318	T	C	18	50912948	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon4:c.T390C:p.P130P;ME2:NM_002396:exon4:c.T390C:p.P130P;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.T390C:p.P130P;ENSG00000082212:ENST00000321341:exon4:c.T390C:p.P130P;	1.00950282088187E-4	0.038
18	48439318	T	G	18	50912948	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon4:c.T390G:p.P130P;ME2:NM_002396:exon4:c.T390G:p.P130P;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.T390G:p.P130P;ENSG00000082212:ENST00000321341:exon4:c.T390G:p.P130P;	1.19615749244732E-4	0.07
18	48439319	A	C	18	50912949	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.A391C:p.K131Q;ME2:NM_002396:exon4:c.A391C:p.K131Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.A391C:p.K131Q;ENSG00000082212:ENST00000321341:exon4:c.A391C:p.K131Q;	0.565319446170699	0.698
18	48439319	A	G	18	50912949	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.A391G:p.K131E;ME2:NM_002396:exon4:c.A391G:p.K131E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.A391G:p.K131E;ENSG00000082212:ENST00000321341:exon4:c.A391G:p.K131E;	0.999642930297926	0.958
18	48439319	A	T	18	50912949	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon4:c.A391T:p.K131X;ME2:NM_002396:exon4:c.A391T:p.K131X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon4:c.A391T:p.K131X;ENSG00000082212:ENST00000321341:exon4:c.A391T:p.K131X;	0.999894162582553	0.992
18	48439320	A	C	18	50912950	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.A392C:p.K131T;ME2:NM_002396:exon4:c.A392C:p.K131T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.A392C:p.K131T;ENSG00000082212:ENST00000321341:exon4:c.A392C:p.K131T;	0.350818878061927	0.658
18	48439320	A	G	18	50912950	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.A392G:p.K131R;ME2:NM_002396:exon4:c.A392G:p.K131R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.A392G:p.K131R;ENSG00000082212:ENST00000321341:exon4:c.A392G:p.K131R;	1.43015183098721E-4	0.13
18	48439320	A	T	18	50912950	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon4:c.A392T:p.K131M;ME2:NM_002396:exon4:c.A392T:p.K131M;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon4:c.A392T:p.K131M;ENSG00000082212:ENST00000321341:exon4:c.A392T:p.K131M;	0.755939409907786	0.484
18	48439321	G	A	18	50912951	y	y	splicing	ME2(NM_001168335:exon4:c.392+1G>A;NM_002396:exon4:c.392+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.392+1G>A;ENST00000382927:exon4:c.392+1G>A)	.	.	0.999985532734767	0.938
18	48439321	G	C	18	50912951	y	y	splicing	ME2(NM_001168335:exon4:c.392+1G>C;NM_002396:exon4:c.392+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.392+1G>C;ENST00000382927:exon4:c.392+1G>C)	.	.	0.999985532734767	0.938
18	48439321	G	T	18	50912951	y	y	splicing	ME2(NM_001168335:exon4:c.392+1G>T;NM_002396:exon4:c.392+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.392+1G>T;ENST00000382927:exon4:c.392+1G>T)	.	.	0.999985532734767	0.938
18	48439322	T	A	18	50912952	y	y	splicing	ME2(NM_001168335:exon4:c.392+2T>A;NM_002396:exon4:c.392+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.392+2T>A;ENST00000382927:exon4:c.392+2T>A)	.	.	0.999988247793601	0.928
18	48439322	T	C	18	50912952	y	y	splicing	ME2(NM_001168335:exon4:c.392+2T>C;NM_002396:exon4:c.392+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.392+2T>C;ENST00000382927:exon4:c.392+2T>C)	.	.	0.999866000002592	0.88
18	48439322	T	G	18	50912952	y	y	splicing	ME2(NM_001168335:exon4:c.392+2T>G;NM_002396:exon4:c.392+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon4:c.392+2T>G;ENST00000382927:exon4:c.392+2T>G)	.	.	0.999988247793601	0.928
18	48439323	A	C	18	50912953	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999729407101854	0.954
18	48439323	A	G	18	50912953	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998715208311332	0.796
18	48439323	A	T	18	50912953	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999729407101854	0.96
18	48439324	A	C	18	50912954	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998716797729809	0.962
18	48439324	A	G	18	50912954	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99974407577337	0.982
18	48439324	A	T	18	50912954	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999211024105605	0.968
18	48439325	G	A	18	50912955	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999978360583293	0.988
18	48439325	G	C	18	50912955	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999980148774796	0.958
18	48439325	G	T	18	50912955	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999980659390905	0.978
18	48439326	G	A	18	50912956	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.13258578653541E-4	0.004
18	48439326	G	C	18	50912956	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.1247803185142E-4	0.038
18	48439326	G	T	18	50912956	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.50025635454411E-4	0.042
18	48439327	C	A	18	50912957	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.14323901626791E-4	0.014
18	48439327	C	G	18	50912957	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.13134465246054E-4	0.036
18	48439327	C	T	18	50912957	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00207733750174308	0.15
18	48439328	T	A	18	50912958	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00203534305569078	0.022
18	48439328	T	C	18	50912958	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00408814247458502	0.014
18	48439328	T	G	18	50912958	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00408814247458502	0.008
18	48442526	G	A	18	50916156	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.985792264543334	0.718
18	48442526	G	C	18	50916156	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.980732504861709	0.782
18	48442526	G	T	18	50916156	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.959577415532313	0.672
18	48442527	T	A	18	50916157	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999564961036552	0.952
18	48442527	T	C	18	50916157	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.993626984319883	0.584
18	48442527	T	G	18	50916157	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999566449309132	0.886
18	48442528	T	A	18	50916158	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999457601116656	0.922
18	48442528	T	C	18	50916158	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.442774342835147	0.518
18	48442528	T	G	18	50916158	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.997847680781671	0.94
18	48442529	C	A	18	50916159	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.925307135779255	0.684
18	48442529	C	G	18	50916159	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.884445326696608	0.644
18	48442529	C	T	18	50916159	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.953978329332194	0.746
18	48442530	T	A	18	50916160	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999504116134663	0.962
18	48442530	T	C	18	50916160	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0321217150486181	0.382
18	48442530	T	G	18	50916160	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.992190095052825	0.652
18	48442531	G	A	18	50916161	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.61935492261846E-4	0.074
18	48442531	G	C	18	50916161	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.51695617161572E-4	0.052
18	48442531	G	T	18	50916161	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.39136098553477E-4	0.048
18	48442532	T	A	18	50916162	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.991355683249632	0.826
18	48442532	T	C	18	50916162	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0407585665495565	0.382
18	48442532	T	G	18	50916162	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.993907078637374	0.844
18	48442533	T	A	18	50916163	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999890381870952	0.972
18	48442533	T	C	18	50916163	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.123217570771368	0.234
18	48442533	T	G	18	50916163	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.972373479442443	0.872
18	48442534	G	A	18	50916164	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0182199449731973	0.06
18	48442534	G	C	18	50916164	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00963626727362987	0.054
18	48442534	G	T	18	50916164	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.017070794049022	0.096
18	48442535	C	A	18	50916165	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999899038369175	0.936
18	48442535	C	G	18	50916165	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99996187021798	0.952
18	48442535	C	T	18	50916165	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.946879152517321	0.32
18	48442536	A	C	18	50916166	y	y	splicing	ME2(NM_001168335:exon5:c.393-2A>C;NM_002396:exon5:c.393-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.393-2A>C;ENST00000382927:exon5:c.393-2A>C)	.	.	0.999988247793601	0.93
18	48442536	A	G	18	50916166	y	y	splicing	ME2(NM_001168335:exon5:c.393-2A>G;NM_002396:exon5:c.393-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.393-2A>G;ENST00000382927:exon5:c.393-2A>G)	.	.	0.999988247793601	0.93
18	48442536	A	T	18	50916166	y	y	splicing	ME2(NM_001168335:exon5:c.393-2A>T;NM_002396:exon5:c.393-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.393-2A>T;ENST00000382927:exon5:c.393-2A>T)	.	.	0.999988247793601	0.93
18	48442537	G	A	18	50916167	y	y	splicing	ME2(NM_001168335:exon5:c.393-1G>A;NM_002396:exon5:c.393-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.393-1G>A;ENST00000382927:exon5:c.393-1G>A)	.	.	0.999990361384395	0.938
18	48442537	G	C	18	50916167	y	y	splicing	ME2(NM_001168335:exon5:c.393-1G>C;NM_002396:exon5:c.393-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.393-1G>C;ENST00000382927:exon5:c.393-1G>C)	.	.	0.999990361384395	0.938
18	48442537	G	T	18	50916167	y	y	splicing	ME2(NM_001168335:exon5:c.393-1G>T;NM_002396:exon5:c.393-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.393-1G>T;ENST00000382927:exon5:c.393-1G>T)	.	.	0.999990361384395	0.938
18	48442538	G	A	18	50916168	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon5:c.G393A:p.K131K;ME2:NM_002396:exon5:c.G393A:p.K131K;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.G393A:p.K131K;ENSG00000082212:ENST00000321341:exon5:c.G393A:p.K131K;	0.911822422431838	0.632
18	48442538	G	C	18	50916168	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.G393C:p.K131N;ME2:NM_002396:exon5:c.G393C:p.K131N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.G393C:p.K131N;ENSG00000082212:ENST00000321341:exon5:c.G393C:p.K131N;	0.999654606440009	0.896
18	48442538	G	T	18	50916168	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.G393T:p.K131N;ME2:NM_002396:exon5:c.G393T:p.K131N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.G393T:p.K131N;ENSG00000082212:ENST00000321341:exon5:c.G393T:p.K131N;	0.999854513922707	0.976
18	48442539	G	A	18	50916169	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.G394A:p.G132R;ME2:NM_002396:exon5:c.G394A:p.G132R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.G394A:p.G132R;ENSG00000082212:ENST00000321341:exon5:c.G394A:p.G132R;	0.987732687452802	0.846
18	48442539	G	C	18	50916169	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.G394C:p.G132R;ME2:NM_002396:exon5:c.G394C:p.G132R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.G394C:p.G132R;ENSG00000082212:ENST00000321341:exon5:c.G394C:p.G132R;	0.966933262579569	0.896
18	48442539	G	T	18	50916169	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon5:c.G394T:p.G132X;ME2:NM_002396:exon5:c.G394T:p.G132X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon5:c.G394T:p.G132X;ENSG00000082212:ENST00000321341:exon5:c.G394T:p.G132X;	0.987211888648224	0.908
18	48442611	A	C	18	50916241	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.A466C:p.K156Q;ME2:NM_002396:exon5:c.A466C:p.K156Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.A466C:p.K156Q;ENSG00000082212:ENST00000321341:exon5:c.A466C:p.K156Q;	0.00243342274596999	0.026
18	48442611	A	G	18	50916241	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.A466G:p.K156E;ME2:NM_002396:exon5:c.A466G:p.K156E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.A466G:p.K156E;ENSG00000082212:ENST00000321341:exon5:c.A466G:p.K156E;	0.932489511090195	0.528
18	48442611	A	T	18	50916241	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon5:c.A466T:p.K156X;ME2:NM_002396:exon5:c.A466T:p.K156X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon5:c.A466T:p.K156X;ENSG00000082212:ENST00000321341:exon5:c.A466T:p.K156X;	0.99923938500927	0.876
18	48442612	A	C	18	50916242	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.A467C:p.K156T;ME2:NM_002396:exon5:c.A467C:p.K156T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.A467C:p.K156T;ENSG00000082212:ENST00000321341:exon5:c.A467C:p.K156T;	0.999947477064226	0.994
18	48442612	A	G	18	50916242	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.A467G:p.K156R;ME2:NM_002396:exon5:c.A467G:p.K156R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.A467G:p.K156R;ENSG00000082212:ENST00000321341:exon5:c.A467G:p.K156R;	0.988721290339215	0.904
18	48442612	A	T	18	50916242	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.A467T:p.K156M;ME2:NM_002396:exon5:c.A467T:p.K156M;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.A467T:p.K156M;ENSG00000082212:ENST00000321341:exon5:c.A467T:p.K156M;	0.999962697471982	0.998
18	48442613	G	A	18	50916243	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon5:c.G468A:p.K156K;ME2:NM_002396:exon5:c.G468A:p.K156K;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.G468A:p.K156K;ENSG00000082212:ENST00000321341:exon5:c.G468A:p.K156K;	0.999980879903668	0.98
18	48442613	G	C	18	50916243	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.G468C:p.K156N;ME2:NM_002396:exon5:c.G468C:p.K156N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.G468C:p.K156N;ENSG00000082212:ENST00000321341:exon5:c.G468C:p.K156N;	0.999997360428448	0.992
18	48442613	G	T	18	50916243	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon5:c.G468T:p.K156N;ME2:NM_002396:exon5:c.G468T:p.K156N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon5:c.G468T:p.K156N;ENSG00000082212:ENST00000321341:exon5:c.G468T:p.K156N;	0.999994342005323	0.966
18	48442614	G	A	18	50916244	y	y	splicing	ME2(NM_001168335:exon5:c.468+1G>A;NM_002396:exon5:c.468+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.468+1G>A;ENST00000382927:exon5:c.468+1G>A)	.	.	0.999990361384395	0.936
18	48442614	G	C	18	50916244	y	y	splicing	ME2(NM_001168335:exon5:c.468+1G>C;NM_002396:exon5:c.468+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.468+1G>C;ENST00000382927:exon5:c.468+1G>C)	.	.	0.999990361384395	0.936
18	48442614	G	T	18	50916244	y	y	splicing	ME2(NM_001168335:exon5:c.468+1G>T;NM_002396:exon5:c.468+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.468+1G>T;ENST00000382927:exon5:c.468+1G>T)	.	.	0.999990361384395	0.936
18	48442615	T	A	18	50916245	y	y	splicing	ME2(NM_001168335:exon5:c.468+2T>A;NM_002396:exon5:c.468+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.468+2T>A;ENST00000382927:exon5:c.468+2T>A)	.	.	0.999988247793601	0.926
18	48442615	T	C	18	50916245	y	y	splicing	ME2(NM_001168335:exon5:c.468+2T>C;NM_002396:exon5:c.468+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.468+2T>C;ENST00000382927:exon5:c.468+2T>C)	.	.	0.992577803696025	0.696
18	48442615	T	G	18	50916245	y	y	splicing	ME2(NM_001168335:exon5:c.468+2T>G;NM_002396:exon5:c.468+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon5:c.468+2T>G;ENST00000382927:exon5:c.468+2T>G)	.	.	0.999988247793601	0.926
18	48442616	A	C	18	50916246	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999897017010325	0.934
18	48442616	A	G	18	50916246	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999434138196369	0.984
18	48442616	A	T	18	50916246	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99987399414322	0.874
18	48442617	C	A	18	50916247	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0043626635750882	0.064
18	48442617	C	G	18	50916247	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0828202479479402	0.288
18	48442617	C	T	18	50916247	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.338417657375568	0.286
18	48442618	T	A	18	50916248	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.034561904830766	0.176
18	48442618	T	C	18	50916248	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0155859933851318	0.142
18	48442618	T	G	18	50916248	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00118185955847481	0.036
18	48442619	A	C	18	50916249	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00131336247155843	0.064
18	48442619	A	G	18	50916249	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.77219984689814E-5	0.082
18	48442619	A	T	18	50916249	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.24200776757651E-4	0.012
18	48442620	A	C	18	50916250	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.79345438330587E-4	0.002
18	48442620	A	G	18	50916250	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.6106117726694E-4	0.002
18	48442620	A	T	18	50916250	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.8061691435268E-4	0.002
18	48442621	T	A	18	50916251	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.40960925182419E-4	0.002
18	48442621	T	C	18	50916251	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0033321047372076	0.01
18	48442621	T	G	18	50916251	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0033321047372076	0.008
18	48443705	T	A	18	50917335	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0531321411957944	0.434
18	48443705	T	C	18	50917335	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00115627918035728	0.074
18	48443705	T	G	18	50917335	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.029469835117672	0.372
18	48443706	T	A	18	50917336	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.943176638757981	0.692
18	48443706	T	C	18	50917336	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00777077809385986	0.222
18	48443706	T	G	18	50917336	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.345273447587891	0.64
18	48443707	T	A	18	50917337	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999940968596753	0.97
18	48443707	T	C	18	50917337	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00299545989829282	0.118
18	48443707	T	G	18	50917337	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.940776707940664	0.828
18	48443708	G	A	18	50917338	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00206070651825951	0.136
18	48443708	G	C	18	50917338	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.32001608267243E-4	0.058
18	48443708	G	T	18	50917338	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.9833017366805E-4	0.07
18	48443709	T	A	18	50917339	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999848705678123	0.98
18	48443709	T	C	18	50917339	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0076620622466087	0.164
18	48443709	T	G	18	50917339	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.987864660510324	0.754
18	48443710	G	A	18	50917340	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.72255178748771E-4	0.01
18	48443710	G	C	18	50917340	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.87085342976694E-5	0.0
18	48443710	G	T	18	50917340	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.6147740984682E-5	0.0
18	48443711	A	C	18	50917341	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.07659033841987E-5	0.002
18	48443711	A	G	18	50917341	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.22462147684851E-5	0.002
18	48443711	A	T	18	50917341	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.46253799799775E-5	0.008
18	48443712	T	A	18	50917342	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.987735241476932	0.682
18	48443712	T	C	18	50917342	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00720590702154656	0.176
18	48443712	T	G	18	50917342	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999856254158833	0.97
18	48443713	T	A	18	50917343	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00111384526646342	0.054
18	48443713	T	C	18	50917343	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0010388171977778	0.03
18	48443713	T	G	18	50917343	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00270708241422482	0.06
18	48443714	A	C	18	50917344	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.11387002347554E-4	0.074
18	48443714	A	G	18	50917344	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.718077734992827	0.492
18	48443714	A	T	18	50917344	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0012959750149363	0.054
18	48443715	A	C	18	50917345	y	y	splicing	ME2(NM_001168335:exon6:c.469-2A>C;NM_002396:exon6:c.469-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.469-2A>C;ENST00000382927:exon6:c.469-2A>C)	.	.	0.999992007541056	0.934
18	48443715	A	G	18	50917345	y	y	splicing	ME2(NM_001168335:exon6:c.469-2A>G;NM_002396:exon6:c.469-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.469-2A>G;ENST00000382927:exon6:c.469-2A>G)	.	.	0.999992007541056	0.934
18	48443715	A	T	18	50917345	y	y	splicing	ME2(NM_001168335:exon6:c.469-2A>T;NM_002396:exon6:c.469-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.469-2A>T;ENST00000382927:exon6:c.469-2A>T)	.	.	0.999992007541056	0.934
18	48443716	G	A	18	50917346	y	y	splicing	ME2(NM_001168335:exon6:c.469-1G>A;NM_002396:exon6:c.469-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.469-1G>A;ENST00000382927:exon6:c.469-1G>A)	.	.	0.999993444959628	0.93
18	48443716	G	C	18	50917346	y	y	splicing	ME2(NM_001168335:exon6:c.469-1G>C;NM_002396:exon6:c.469-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.469-1G>C;ENST00000382927:exon6:c.469-1G>C)	.	.	0.999993444959628	0.93
18	48443716	G	T	18	50917346	y	y	splicing	ME2(NM_001168335:exon6:c.469-1G>T;NM_002396:exon6:c.469-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.469-1G>T;ENST00000382927:exon6:c.469-1G>T)	.	.	0.999993444959628	0.93
18	48443717	G	A	18	50917347	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.G469A:p.A157T;ME2:NM_002396:exon6:c.G469A:p.A157T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.G469A:p.A157T;ENSG00000082212:ENST00000321341:exon6:c.G469A:p.A157T;	0.99952103763142	0.872
18	48443717	G	C	18	50917347	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.G469C:p.A157P;ME2:NM_002396:exon6:c.G469C:p.A157P;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.G469C:p.A157P;ENSG00000082212:ENST00000321341:exon6:c.G469C:p.A157P;	0.999920307047639	0.954
18	48443717	G	T	18	50917347	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.G469T:p.A157S;ME2:NM_002396:exon6:c.G469T:p.A157S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.G469T:p.A157S;ENSG00000082212:ENST00000321341:exon6:c.G469T:p.A157S;	0.999941783639856	0.988
18	48443718	C	A	18	50917348	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.C470A:p.A157D;ME2:NM_002396:exon6:c.C470A:p.A157D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.C470A:p.A157D;ENSG00000082212:ENST00000321341:exon6:c.C470A:p.A157D;	0.457903097637416	0.5
18	48443718	C	G	18	50917348	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.C470G:p.A157G;ME2:NM_002396:exon6:c.C470G:p.A157G;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.C470G:p.A157G;ENSG00000082212:ENST00000321341:exon6:c.C470G:p.A157G;	0.211696587397446	0.362
18	48443718	C	T	18	50917348	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.C470T:p.A157V;ME2:NM_002396:exon6:c.C470T:p.A157V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.C470T:p.A157V;ENSG00000082212:ENST00000321341:exon6:c.C470T:p.A157V;	0.0837228211982106	0.46
18	48443876	A	C	18	50917506	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.A628C:p.I210L;ME2:NM_002396:exon6:c.A628C:p.I210L;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.A628C:p.I210L;ENSG00000082212:ENST00000321341:exon6:c.A628C:p.I210L;	2.31932960951099E-5	0.02
18	48443876	A	G	18	50917506	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.A628G:p.I210V;ME2:NM_002396:exon6:c.A628G:p.I210V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.A628G:p.I210V;ENSG00000082212:ENST00000321341:exon6:c.A628G:p.I210V;	2.10117488460568E-4	0.01
18	48443876	A	T	18	50917506	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.A628T:p.I210F;ME2:NM_002396:exon6:c.A628T:p.I210F;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.A628T:p.I210F;ENSG00000082212:ENST00000321341:exon6:c.A628T:p.I210F;	0.00961514560780214	0.2
18	48443877	T	A	18	50917507	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.T629A:p.I210N;ME2:NM_002396:exon6:c.T629A:p.I210N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.T629A:p.I210N;ENSG00000082212:ENST00000321341:exon6:c.T629A:p.I210N;	1.81481377777176E-4	0.18
18	48443877	T	C	18	50917507	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.T629C:p.I210T;ME2:NM_002396:exon6:c.T629C:p.I210T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.T629C:p.I210T;ENSG00000082212:ENST00000321341:exon6:c.T629C:p.I210T;	2.81321423072832E-4	0.022
18	48443877	T	G	18	50917507	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.T629G:p.I210S;ME2:NM_002396:exon6:c.T629G:p.I210S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.T629G:p.I210S;ENSG00000082212:ENST00000321341:exon6:c.T629G:p.I210S;	0.00135671441206805	0.162
18	48443878	C	A	18	50917508	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon6:c.C630A:p.I210I;ME2:NM_002396:exon6:c.C630A:p.I210I;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.C630A:p.I210I;ENSG00000082212:ENST00000321341:exon6:c.C630A:p.I210I;	1.68722279407654E-4	0.09
18	48443878	C	G	18	50917508	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon6:c.C630G:p.I210M;ME2:NM_002396:exon6:c.C630G:p.I210M;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.C630G:p.I210M;ENSG00000082212:ENST00000321341:exon6:c.C630G:p.I210M;	1.80472425449765E-5	0.212
18	48443878	C	T	18	50917508	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon6:c.C630T:p.I210I;ME2:NM_002396:exon6:c.C630T:p.I210I;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon6:c.C630T:p.I210I;ENSG00000082212:ENST00000321341:exon6:c.C630T:p.I210I;	4.67347130230189E-4	0.094
18	48443879	G	A	18	50917509	y	y	splicing	ME2(NM_001168335:exon6:c.630+1G>A;NM_002396:exon6:c.630+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.630+1G>A;ENST00000382927:exon6:c.630+1G>A)	.	.	0.99993314117114	0.944
18	48443879	G	C	18	50917509	y	y	splicing	ME2(NM_001168335:exon6:c.630+1G>C;NM_002396:exon6:c.630+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.630+1G>C;ENST00000382927:exon6:c.630+1G>C)	.	.	0.99993314117114	0.948
18	48443879	G	T	18	50917509	y	y	splicing	ME2(NM_001168335:exon6:c.630+1G>T;NM_002396:exon6:c.630+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.630+1G>T;ENST00000382927:exon6:c.630+1G>T)	.	.	0.99993314117114	0.948
18	48443880	T	A	18	50917510	y	y	splicing	ME2(NM_001168335:exon6:c.630+2T>A;NM_002396:exon6:c.630+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.630+2T>A;ENST00000382927:exon6:c.630+2T>A)	.	.	0.99994568797423	0.944
18	48443880	T	C	18	50917510	y	y	splicing	ME2(NM_001168335:exon6:c.630+2T>C;NM_002396:exon6:c.630+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.630+2T>C;ENST00000382927:exon6:c.630+2T>C)	.	.	0.999691296192029	0.92
18	48443880	T	G	18	50917510	y	y	splicing	ME2(NM_001168335:exon6:c.630+2T>G;NM_002396:exon6:c.630+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon6:c.630+2T>G;ENST00000382927:exon6:c.630+2T>G)	.	.	0.999946188727699	0.944
18	48443881	G	A	18	50917511	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.60239955743608E-4	0.002
18	48443881	G	C	18	50917511	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.915229351463106	0.656
18	48443881	G	T	18	50917511	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.988591559360059	0.55
18	48443882	A	C	18	50917512	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.982585948798992	0.762
18	48443882	A	G	18	50917512	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.997999680278016	0.888
18	48443882	A	T	18	50917512	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999355766431134	0.858
18	48443883	G	A	18	50917513	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99997933363571	0.998
18	48443883	G	C	18	50917513	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999992008232868	0.988
18	48443883	G	T	18	50917513	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999978848597209	0.998
18	48443884	T	A	18	50917514	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.850651272900808	0.622
18	48443884	T	C	18	50917514	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.701453060159004	0.66
18	48443884	T	G	18	50917514	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.868881875463816	0.724
18	48443885	A	C	18	50917515	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.77963512005572E-4	0.0
18	48443885	A	G	18	50917515	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.09281297654159E-4	0.0
18	48443885	A	T	18	50917515	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.5684319684165E-4	0.0
18	48443886	A	C	18	50917516	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.27505293117029E-5	0.0
18	48443886	A	G	18	50917516	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.33724400937105E-4	0.002
18	48443886	A	T	18	50917516	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.27505293117029E-5	0.002
18	48444468	T	A	18	50918098	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00294673597933394	0.104
18	48444468	T	C	18	50918098	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.87805723307515E-5	0.0
18	48444468	T	G	18	50918098	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00431291952578653	0.12
18	48444469	T	A	18	50918099	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.167265745043089	0.428
18	48444469	T	C	18	50918099	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.43356709267428E-4	0.106
18	48444469	T	G	18	50918099	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.143138625229056	0.444
18	48444470	T	A	18	50918100	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0802902495306447	0.364
18	48444470	T	C	18	50918100	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.59302337935721E-4	0.006
18	48444470	T	G	18	50918100	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0967955812420589	0.366
18	48444471	A	C	18	50918101	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.47226774734786E-5	0.004
18	48444471	A	G	18	50918101	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.72442165672449E-5	0.002
18	48444471	A	T	18	50918101	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.39074845527264E-5	0.004
18	48444472	T	A	18	50918102	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.124567056525483	0.306
18	48444472	T	C	18	50918102	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.34985986357413E-4	0.018
18	48444472	T	G	18	50918102	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999861671830079	0.986
18	48444473	T	A	18	50918103	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.148694250871801	0.31
18	48444473	T	C	18	50918103	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.02631627421561E-4	0.0
18	48444473	T	G	18	50918103	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0956456367215206	0.296
18	48444474	T	A	18	50918104	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.168629777930459	0.578
18	48444474	T	C	18	50918104	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.05941070521329E-4	0.002
18	48444474	T	G	18	50918104	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.282490269141436	0.548
18	48444475	T	A	18	50918105	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999810199305315	0.954
18	48444475	T	C	18	50918105	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00855219926074986	0.122
18	48444475	T	G	18	50918105	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.989331419080009	0.85
18	48444476	G	A	18	50918106	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.38377291520155E-5	0.004
18	48444476	G	C	18	50918106	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.52756850822907E-5	0.004
18	48444476	G	T	18	50918106	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.55399914578537E-5	0.0
18	48444477	T	A	18	50918107	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0644282475159499	0.248
18	48444477	T	C	18	50918107	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.54082262908034E-4	0.0
18	48444477	T	G	18	50918107	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99969919210634	0.828
18	48444478	A	C	18	50918108	y	y	splicing	ME2(NM_001168335:exon7:c.631-2A>C;NM_002396:exon7:c.631-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.631-2A>C;ENST00000382927:exon7:c.631-2A>C)	.	.	0.999988247793601	0.932
18	48444478	A	G	18	50918108	y	y	splicing	ME2(NM_001168335:exon7:c.631-2A>G;NM_002396:exon7:c.631-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.631-2A>G;ENST00000382927:exon7:c.631-2A>G)	.	.	0.999988247793601	0.932
18	48444478	A	T	18	50918108	y	y	splicing	ME2(NM_001168335:exon7:c.631-2A>T;NM_002396:exon7:c.631-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.631-2A>T;ENST00000382927:exon7:c.631-2A>T)	.	.	0.999988247793601	0.932
18	48444479	G	A	18	50918109	y	y	splicing	ME2(NM_001168335:exon7:c.631-1G>A;NM_002396:exon7:c.631-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.631-1G>A;ENST00000382927:exon7:c.631-1G>A)	.	.	0.999985532734767	0.938
18	48444479	G	C	18	50918109	y	y	splicing	ME2(NM_001168335:exon7:c.631-1G>C;NM_002396:exon7:c.631-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.631-1G>C;ENST00000382927:exon7:c.631-1G>C)	.	.	0.999985532734767	0.938
18	48444479	G	T	18	50918109	y	y	splicing	ME2(NM_001168335:exon7:c.631-1G>T;NM_002396:exon7:c.631-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.631-1G>T;ENST00000382927:exon7:c.631-1G>T)	.	.	0.999985532734767	0.938
18	48444480	G	A	18	50918110	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.G631A:p.A211T;ME2:NM_002396:exon7:c.G631A:p.A211T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.G631A:p.A211T;ENSG00000082212:ENST00000321341:exon7:c.G631A:p.A211T;	0.42475549812697	0.376
18	48444480	G	C	18	50918110	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.G631C:p.A211P;ME2:NM_002396:exon7:c.G631C:p.A211P;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.G631C:p.A211P;ENSG00000082212:ENST00000321341:exon7:c.G631C:p.A211P;	0.989867530101357	0.904
18	48444480	G	T	18	50918110	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.G631T:p.A211S;ME2:NM_002396:exon7:c.G631T:p.A211S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.G631T:p.A211S;ENSG00000082212:ENST00000321341:exon7:c.G631T:p.A211S;	0.782231057967919	0.732
18	48444481	C	A	18	50918111	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.C632A:p.A211E;ME2:NM_002396:exon7:c.C632A:p.A211E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.C632A:p.A211E;ENSG00000082212:ENST00000321341:exon7:c.C632A:p.A211E;	8.18453363138013E-4	0.016
18	48444481	C	G	18	50918111	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.C632G:p.A211G;ME2:NM_002396:exon7:c.C632G:p.A211G;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.C632G:p.A211G;ENSG00000082212:ENST00000321341:exon7:c.C632G:p.A211G;	0.0538646001862614	0.202
18	48444481	C	T	18	50918111	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.C632T:p.A211V;ME2:NM_002396:exon7:c.C632T:p.A211V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.C632T:p.A211V;ENSG00000082212:ENST00000321341:exon7:c.C632T:p.A211V;	0.64009505445386	0.544
18	48444581	C	A	18	50918211	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.C732A:p.D244E;ME2:NM_002396:exon7:c.C732A:p.D244E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.C732A:p.D244E;ENSG00000082212:ENST00000321341:exon7:c.C732A:p.D244E;	0.826346876839492	0.63
18	48444581	C	G	18	50918211	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.C732G:p.D244E;ME2:NM_002396:exon7:c.C732G:p.D244E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.C732G:p.D244E;ENSG00000082212:ENST00000321341:exon7:c.C732G:p.D244E;	0.922213752148005	0.622
18	48444581	C	T	18	50918211	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon7:c.C732T:p.D244D;ME2:NM_002396:exon7:c.C732T:p.D244D;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.C732T:p.D244D;ENSG00000082212:ENST00000321341:exon7:c.C732T:p.D244D;	0.998929605269653	0.976
18	48444582	A	C	18	50918212	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon7:c.A733C:p.R245R;ME2:NM_002396:exon7:c.A733C:p.R245R;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.A733C:p.R245R;ENSG00000082212:ENST00000321341:exon7:c.A733C:p.R245R;	0.999420669468481	0.996
18	48444582	A	G	18	50918212	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.A733G:p.R245G;ME2:NM_002396:exon7:c.A733G:p.R245G;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.A733G:p.R245G;ENSG00000082212:ENST00000321341:exon7:c.A733G:p.R245G;	0.999920428308495	1.0
18	48444582	A	T	18	50918212	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon7:c.A733T:p.R245X;ME2:NM_002396:exon7:c.A733T:p.R245X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon7:c.A733T:p.R245X;ENSG00000082212:ENST00000321341:exon7:c.A733T:p.R245X;	0.99995243503548	0.984
18	48444583	G	A	18	50918213	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.G734A:p.R245K;ME2:NM_002396:exon7:c.G734A:p.R245K;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.G734A:p.R245K;ENSG00000082212:ENST00000321341:exon7:c.G734A:p.R245K;	0.999981993924461	1.0
18	48444583	G	C	18	50918213	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.G734C:p.R245T;ME2:NM_002396:exon7:c.G734C:p.R245T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.G734C:p.R245T;ENSG00000082212:ENST00000321341:exon7:c.G734C:p.R245T;	0.999989283529891	1.0
18	48444583	G	T	18	50918213	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon7:c.G734T:p.R245I;ME2:NM_002396:exon7:c.G734T:p.R245I;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon7:c.G734T:p.R245I;ENSG00000082212:ENST00000321341:exon7:c.G734T:p.R245I;	0.999981834634186	1.0
18	48444584	G	A	18	50918214	y	y	splicing	ME2(NM_001168335:exon7:c.734+1G>A;NM_002396:exon7:c.734+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.734+1G>A;ENST00000382927:exon7:c.734+1G>A)	.	.	0.999985532734767	0.946
18	48444584	G	C	18	50918214	y	y	splicing	ME2(NM_001168335:exon7:c.734+1G>C;NM_002396:exon7:c.734+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.734+1G>C;ENST00000382927:exon7:c.734+1G>C)	.	.	0.999985532734767	0.946
18	48444584	G	T	18	50918214	y	y	splicing	ME2(NM_001168335:exon7:c.734+1G>T;NM_002396:exon7:c.734+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.734+1G>T;ENST00000382927:exon7:c.734+1G>T)	.	.	0.999985532734767	0.946
18	48444585	T	A	18	50918215	y	y	splicing	ME2(NM_001168335:exon7:c.734+2T>A;NM_002396:exon7:c.734+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.734+2T>A;ENST00000382927:exon7:c.734+2T>A)	.	.	0.999988247793601	0.948
18	48444585	T	C	18	50918215	y	y	splicing	ME2(NM_001168335:exon7:c.734+2T>C;NM_002396:exon7:c.734+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.734+2T>C;ENST00000382927:exon7:c.734+2T>C)	.	.	0.98918007292081	0.65
18	48444585	T	G	18	50918215	y	y	splicing	ME2(NM_001168335:exon7:c.734+2T>G;NM_002396:exon7:c.734+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon7:c.734+2T>G;ENST00000382927:exon7:c.734+2T>G)	.	.	0.999988247793601	0.948
18	48444586	A	C	18	50918216	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99990445602848	0.978
18	48444586	A	G	18	50918216	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999860672130145	0.96
18	48444586	A	T	18	50918216	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999055998540578	0.978
18	48444587	T	A	18	50918217	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.31453462413053E-4	0.066
18	48444587	T	C	18	50918217	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00172009052363325	0.048
18	48444587	T	G	18	50918217	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.23912533192017E-4	0.016
18	48444588	T	A	18	50918218	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.66128504850024E-5	0.006
18	48444588	T	C	18	50918218	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.91866011823852E-6	0.0
18	48444588	T	G	18	50918218	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.47237909803312E-5	0.002
18	48444589	T	A	18	50918219	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.60833766879518E-4	0.04
18	48444589	T	C	18	50918219	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00565361976061641	0.128
18	48444589	T	G	18	50918219	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.51167136022359E-5	0.082
18	48444590	T	A	18	50918220	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.81104709051921E-5	0.0
18	48444590	T	C	18	50918220	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.84284240824962E-5	0.006
18	48444590	T	G	18	50918220	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.23048590914808E-5	0.0
18	48444591	T	A	18	50918221	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.28725715194671E-4	0.018
18	48444591	T	C	18	50918221	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.28725715194671E-4	0.014
18	48444591	T	G	18	50918221	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.6490347510907E-4	0.036
18	48446814	T	A	18	50920444	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.9998969841772	0.956
18	48446814	T	C	18	50920444	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.75752493594688E-4	0.058
18	48446814	T	G	18	50920444	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.102594390937621	0.444
18	48446815	G	A	18	50920445	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.76274970057428E-4	0.046
18	48446815	G	C	18	50920445	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.33994433720815E-5	0.012
18	48446815	G	T	18	50920445	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.47420620985786E-5	0.058
18	48446816	C	A	18	50920446	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.78242126005236E-4	0.01
18	48446816	C	G	18	50920446	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.52753791810054E-5	0.012
18	48446816	C	T	18	50920446	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.9238475397574E-5	0.0
18	48446817	T	A	18	50920447	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999594430393042	0.952
18	48446817	T	C	18	50920447	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.40073486278399E-4	0.008
18	48446817	T	G	18	50920447	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.032509487555662	0.408
18	48446818	G	A	18	50920448	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.24631237256559E-4	0.024
18	48446818	G	C	18	50920448	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.80133921350654E-5	0.016
18	48446818	G	T	18	50920448	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.54359196341607E-5	0.002
18	48446819	T	A	18	50920449	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.289152610692684	0.43
18	48446819	T	C	18	50920449	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.57906452745752E-4	0.004
18	48446819	T	G	18	50920449	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.101510849760942	0.368
18	48446820	T	A	18	50920450	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.579949948126503	0.476
18	48446820	T	C	18	50920450	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.60792430405968E-4	0.02
18	48446820	T	G	18	50920450	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.389664186478883	0.488
18	48446821	T	A	18	50920451	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.945524510763472	0.638
18	48446821	T	C	18	50920451	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0153360112559588	0.116
18	48446821	T	G	18	50920451	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.963647009437088	0.606
18	48446822	T	A	18	50920452	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.82004881259706E-4	0.034
18	48446822	T	C	18	50920452	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.89267199931285E-5	0.004
18	48446822	T	G	18	50920452	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.5159890118844E-4	0.006
18	48446823	T	A	18	50920453	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0152801551708309	0.246
18	48446823	T	C	18	50920453	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.14687109279835E-5	0.01
18	48446823	T	G	18	50920453	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.996499415627574	0.71
18	48446824	A	C	18	50920454	y	y	splicing	ME2(NM_001168335:exon8:c.735-2A>C;NM_002396:exon8:c.735-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.735-2A>C;ENST00000382927:exon8:c.735-2A>C)	.	.	0.999970661931818	0.928
18	48446824	A	G	18	50920454	y	y	splicing	ME2(NM_001168335:exon8:c.735-2A>G;NM_002396:exon8:c.735-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.735-2A>G;ENST00000382927:exon8:c.735-2A>G)	.	.	0.99994568797423	0.928
18	48446824	A	T	18	50920454	y	y	splicing	ME2(NM_001168335:exon8:c.735-2A>T;NM_002396:exon8:c.735-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.735-2A>T;ENST00000382927:exon8:c.735-2A>T)	.	.	0.999978952611685	0.93
18	48446825	G	A	18	50920455	y	y	splicing	ME2(NM_001168335:exon8:c.735-1G>A;NM_002396:exon8:c.735-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.735-1G>A;ENST00000382927:exon8:c.735-1G>A)	.	.	0.99995545544995	0.948
18	48446825	G	C	18	50920455	y	y	splicing	ME2(NM_001168335:exon8:c.735-1G>C;NM_002396:exon8:c.735-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.735-1G>C;ENST00000382927:exon8:c.735-1G>C)	.	.	0.99995586615188	0.942
18	48446825	G	T	18	50920455	y	y	splicing	ME2(NM_001168335:exon8:c.735-1G>T;NM_002396:exon8:c.735-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.735-1G>T;ENST00000382927:exon8:c.735-1G>T)	.	.	0.99995545544995	0.948
18	48446826	A	C	18	50920456	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.A735C:p.R245S;ME2:NM_002396:exon8:c.A735C:p.R245S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A735C:p.R245S;ENSG00000082212:ENST00000321341:exon8:c.A735C:p.R245S;	8.68127208247558E-4	0.136
18	48446826	A	G	18	50920456	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon8:c.A735G:p.R245R;ME2:NM_002396:exon8:c.A735G:p.R245R;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A735G:p.R245R;ENSG00000082212:ENST00000321341:exon8:c.A735G:p.R245R;	3.87069389068548E-5	0.0
18	48446826	A	T	18	50920456	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.A735T:p.R245S;ME2:NM_002396:exon8:c.A735T:p.R245S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A735T:p.R245S;ENSG00000082212:ENST00000321341:exon8:c.A735T:p.R245S;	0.00248261405350232	0.106
18	48446827	T	A	18	50920457	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.T736A:p.Y246N;ME2:NM_002396:exon8:c.T736A:p.Y246N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.T736A:p.Y246N;ENSG00000082212:ENST00000321341:exon8:c.T736A:p.Y246N;	0.330907648142413	0.492
18	48446827	T	C	18	50920457	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.T736C:p.Y246H;ME2:NM_002396:exon8:c.T736C:p.Y246H;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.T736C:p.Y246H;ENSG00000082212:ENST00000321341:exon8:c.T736C:p.Y246H;	0.340095334281714	0.5
18	48446827	T	G	18	50920457	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.T736G:p.Y246D;ME2:NM_002396:exon8:c.T736G:p.Y246D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.T736G:p.Y246D;ENSG00000082212:ENST00000321341:exon8:c.T736G:p.Y246D;	0.333519076526949	0.49
18	48446933	A	C	18	50920563	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.A842C:p.Q281P;ME2:NM_002396:exon8:c.A842C:p.Q281P;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A842C:p.Q281P;ENSG00000082212:ENST00000321341:exon8:c.A842C:p.Q281P;	0.670599928941218	0.698
18	48446933	A	G	18	50920563	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.A842G:p.Q281R;ME2:NM_002396:exon8:c.A842G:p.Q281R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A842G:p.Q281R;ENSG00000082212:ENST00000321341:exon8:c.A842G:p.Q281R;	0.244031078093153	0.52
18	48446933	A	T	18	50920563	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.A842T:p.Q281L;ME2:NM_002396:exon8:c.A842T:p.Q281L;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A842T:p.Q281L;ENSG00000082212:ENST00000321341:exon8:c.A842T:p.Q281L;	0.993878332961248	0.754
18	48446934	A	C	18	50920564	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.A843C:p.Q281H;ME2:NM_002396:exon8:c.A843C:p.Q281H;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A843C:p.Q281H;ENSG00000082212:ENST00000321341:exon8:c.A843C:p.Q281H;	0.816295127975713	0.602
18	48446934	A	G	18	50920564	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon8:c.A843G:p.Q281Q;ME2:NM_002396:exon8:c.A843G:p.Q281Q;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A843G:p.Q281Q;ENSG00000082212:ENST00000321341:exon8:c.A843G:p.Q281Q;	0.863723780588795	0.612
18	48446934	A	T	18	50920564	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.A843T:p.Q281H;ME2:NM_002396:exon8:c.A843T:p.Q281H;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.A843T:p.Q281H;ENSG00000082212:ENST00000321341:exon8:c.A843T:p.Q281H;	0.995940865618735	0.806
18	48446935	G	A	18	50920565	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.G844A:p.G282R;ME2:NM_002396:exon8:c.G844A:p.G282R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.G844A:p.G282R;ENSG00000082212:ENST00000321341:exon8:c.G844A:p.G282R;	0.999994222381975	0.996
18	48446935	G	C	18	50920565	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.G844C:p.G282R;ME2:NM_002396:exon8:c.G844C:p.G282R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.G844C:p.G282R;ENSG00000082212:ENST00000321341:exon8:c.G844C:p.G282R;	0.999998122414291	1.0
18	48446935	G	T	18	50920565	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon8:c.G844T:p.G282W;ME2:NM_002396:exon8:c.G844T:p.G282W;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon8:c.G844T:p.G282W;ENSG00000082212:ENST00000321341:exon8:c.G844T:p.G282W;	0.999990237023714	1.0
18	48446936	G	A	18	50920566	y	y	splicing	ME2(NM_001168335:exon8:c.844+1G>A;NM_002396:exon8:c.844+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.844+1G>A;ENST00000382927:exon8:c.844+1G>A)	.	.	0.999990361384395	0.938
18	48446936	G	C	18	50920566	y	y	splicing	ME2(NM_001168335:exon8:c.844+1G>C;NM_002396:exon8:c.844+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.844+1G>C;ENST00000382927:exon8:c.844+1G>C)	.	.	0.999990361384395	0.938
18	48446936	G	T	18	50920566	y	y	splicing	ME2(NM_001168335:exon8:c.844+1G>T;NM_002396:exon8:c.844+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.844+1G>T;ENST00000382927:exon8:c.844+1G>T)	.	.	0.999990361384395	0.938
18	48446937	T	A	18	50920567	y	y	splicing	ME2(NM_001168335:exon8:c.844+2T>A;NM_002396:exon8:c.844+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.844+2T>A;ENST00000382927:exon8:c.844+2T>A)	.	.	0.999992446697775	0.928
18	48446937	T	C	18	50920567	y	y	splicing	ME2(NM_001168335:exon8:c.844+2T>C;NM_002396:exon8:c.844+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.844+2T>C;ENST00000382927:exon8:c.844+2T>C)	.	.	0.989838600809155	0.596
18	48446937	T	G	18	50920567	y	y	splicing	ME2(NM_001168335:exon8:c.844+2T>G;NM_002396:exon8:c.844+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon8:c.844+2T>G;ENST00000382927:exon8:c.844+2T>G)	.	.	0.999992446697775	0.878
18	48446938	A	C	18	50920568	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999854728842322	0.932
18	48446938	A	G	18	50920568	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.975813897983259	0.592
18	48446938	A	T	18	50920568	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998965345595374	0.834
18	48446939	A	C	18	50920569	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.76394869204813	0.566
18	48446939	A	G	18	50920569	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.944657110134012	0.656
18	48446939	A	T	18	50920569	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.94996225937686	0.516
18	48446940	A	C	18	50920570	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00139740997458489	0.078
18	48446940	A	G	18	50920570	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00165153618312325	0.064
18	48446940	A	T	18	50920570	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00362109667082396	0.062
18	48446941	G	A	18	50920571	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.92546148837988E-5	0.0
18	48446941	G	C	18	50920571	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.69775242755577E-5	0.004
18	48446941	G	T	18	50920571	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.04499888154402E-5	0.0
18	48446942	C	A	18	50920572	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.66929721391777E-6	0.0
18	48446942	C	G	18	50920572	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.7149198864628E-5	0.0
18	48446942	C	T	18	50920572	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.25480852899086E-5	0.002
18	48446943	A	C	18	50920573	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.36188765766749E-5	0.012
18	48446943	A	G	18	50920573	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.10187336277819E-5	0.01
18	48446943	A	T	18	50920573	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.10187336277819E-5	0.01
18	48447019	T	A	18	50920649	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.63511418864051E-4	0.076
18	48447019	T	C	18	50920649	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.01602363682793E-5	0.008
18	48447019	T	G	18	50920649	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.15154852337212E-4	0.078
18	48447020	T	A	18	50920650	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.40393525774476E-4	0.162
18	48447020	T	C	18	50920650	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.01058822096653E-4	0.018
18	48447020	T	G	18	50920650	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.18741918664182E-4	0.234
18	48447021	T	A	18	50920651	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00157016475224322	0.168
18	48447021	T	C	18	50920651	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.59077733431126E-4	0.006
18	48447021	T	G	18	50920651	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.85990933947541E-4	0.18
18	48447022	T	A	18	50920652	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.74130280479014E-4	0.068
18	48447022	T	C	18	50920652	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.67908561663088E-5	0.004
18	48447022	T	G	18	50920652	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.12991932535127E-4	0.098
18	48447023	T	A	18	50920653	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.72850068007544E-5	0.048
18	48447023	T	C	18	50920653	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.1847283431478E-5	0.008
18	48447023	T	G	18	50920653	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.84716327754097E-5	0.144
18	48447024	C	A	18	50920654	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.82971710275817E-4	0.104
18	48447024	C	G	18	50920654	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.16088995080135E-5	0.038
18	48447024	C	T	18	50920654	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.52953280868634E-5	0.018
18	48447025	T	A	18	50920655	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00101935063760432	0.036
18	48447025	T	C	18	50920655	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.8837086010597E-5	0.0
18	48447025	T	G	18	50920655	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.07689345562672E-4	0.058
18	48447026	T	A	18	50920656	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.8018083018383E-4	0.032
18	48447026	T	C	18	50920656	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.0700010117794E-5	0.002
18	48447026	T	G	18	50920656	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.29929180431215E-4	0.062
18	48447027	A	C	18	50920657	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.80647943280635E-5	0.112
18	48447027	A	G	18	50920657	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.73575289489172E-5	0.01
18	48447027	A	T	18	50920657	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.15536136161431E-5	0.018
18	48447028	C	A	18	50920658	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.191615072499353	0.288
18	48447028	C	G	18	50920658	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.995421058999532	0.502
18	48447028	C	T	18	50920658	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.38289644546062E-4	0.056
18	48447029	A	C	18	50920659	y	y	splicing	ME2(NM_001168335:exon9:c.845-2A>C;NM_002396:exon9:c.845-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.845-2A>C;ENST00000382927:exon9:c.845-2A>C)	.	.	0.999946188727699	0.934
18	48447029	A	G	18	50920659	y	y	splicing	ME2(NM_001168335:exon9:c.845-2A>G;NM_002396:exon9:c.845-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.845-2A>G;ENST00000382927:exon9:c.845-2A>G)	.	.	0.999946188727699	0.94
18	48447029	A	T	18	50920659	y	y	splicing	ME2(NM_001168335:exon9:c.845-2A>T;NM_002396:exon9:c.845-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.845-2A>T;ENST00000382927:exon9:c.845-2A>T)	.	.	0.99994568797423	0.946
18	48447030	G	A	18	50920660	y	y	splicing	ME2(NM_001168335:exon9:c.845-1G>A;NM_002396:exon9:c.845-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.845-1G>A;ENST00000382927:exon9:c.845-1G>A)	.	.	0.999982737877662	0.938
18	48447030	G	C	18	50920660	y	y	splicing	ME2(NM_001168335:exon9:c.845-1G>C;NM_002396:exon9:c.845-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.845-1G>C;ENST00000382927:exon9:c.845-1G>C)	.	.	0.99995545544995	0.932
18	48447030	G	T	18	50920660	y	y	splicing	ME2(NM_001168335:exon9:c.845-1G>T;NM_002396:exon9:c.845-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.845-1G>T;ENST00000382927:exon9:c.845-1G>T)	.	.	0.999982737877662	0.932
18	48447031	G	A	18	50920661	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.G845A:p.G282E;ME2:NM_002396:exon9:c.G845A:p.G282E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G845A:p.G282E;ENSG00000082212:ENST00000321341:exon9:c.G845A:p.G282E;	0.99842493518291	0.838
18	48447031	G	C	18	50920661	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.G845C:p.G282A;ME2:NM_002396:exon9:c.G845C:p.G282A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G845C:p.G282A;ENSG00000082212:ENST00000321341:exon9:c.G845C:p.G282A;	0.99928034435226	0.826
18	48447031	G	T	18	50920661	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.G845T:p.G282V;ME2:NM_002396:exon9:c.G845T:p.G282V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G845T:p.G282V;ENSG00000082212:ENST00000321341:exon9:c.G845T:p.G282V;	0.999811663206243	0.94
18	48447032	G	A	18	50920662	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon9:c.G846A:p.G282G;ME2:NM_002396:exon9:c.G846A:p.G282G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G846A:p.G282G;ENSG00000082212:ENST00000321341:exon9:c.G846A:p.G282G;	4.63900775772106E-5	0.008
18	48447032	G	C	18	50920662	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon9:c.G846C:p.G282G;ME2:NM_002396:exon9:c.G846C:p.G282G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G846C:p.G282G;ENSG00000082212:ENST00000321341:exon9:c.G846C:p.G282G;	5.35778155113889E-5	0.0
18	48447032	G	T	18	50920662	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon9:c.G846T:p.G282G;ME2:NM_002396:exon9:c.G846T:p.G282G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G846T:p.G282G;ENSG00000082212:ENST00000321341:exon9:c.G846T:p.G282G;	3.13985961672393E-5	0.002
18	48447126	G	A	18	50920756	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.G940A:p.E314K;ME2:NM_002396:exon9:c.G940A:p.E314K;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G940A:p.E314K;ENSG00000082212:ENST00000321341:exon9:c.G940A:p.E314K;	0.964712407980246	0.842
18	48447126	G	C	18	50920756	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.G940C:p.E314Q;ME2:NM_002396:exon9:c.G940C:p.E314Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G940C:p.E314Q;ENSG00000082212:ENST00000321341:exon9:c.G940C:p.E314Q;	0.950881640876535	0.768
18	48447126	G	T	18	50920756	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon9:c.G940T:p.E314X;ME2:NM_002396:exon9:c.G940T:p.E314X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon9:c.G940T:p.E314X;ENSG00000082212:ENST00000321341:exon9:c.G940T:p.E314X;	0.988735001821164	0.864
18	48447127	A	C	18	50920757	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.A941C:p.E314A;ME2:NM_002396:exon9:c.A941C:p.E314A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.A941C:p.E314A;ENSG00000082212:ENST00000321341:exon9:c.A941C:p.E314A;	0.990878469206079	0.722
18	48447127	A	G	18	50920757	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.A941G:p.E314G;ME2:NM_002396:exon9:c.A941G:p.E314G;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.A941G:p.E314G;ENSG00000082212:ENST00000321341:exon9:c.A941G:p.E314G;	0.992243631099655	0.902
18	48447127	A	T	18	50920757	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.A941T:p.E314V;ME2:NM_002396:exon9:c.A941T:p.E314V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.A941T:p.E314V;ENSG00000082212:ENST00000321341:exon9:c.A941T:p.E314V;	0.990278694703747	0.578
18	48447128	G	A	18	50920758	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon9:c.G942A:p.E314E;ME2:NM_002396:exon9:c.G942A:p.E314E;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G942A:p.E314E;ENSG00000082212:ENST00000321341:exon9:c.G942A:p.E314E;	0.526267026894959	0.548
18	48447128	G	C	18	50920758	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.G942C:p.E314D;ME2:NM_002396:exon9:c.G942C:p.E314D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G942C:p.E314D;ENSG00000082212:ENST00000321341:exon9:c.G942C:p.E314D;	0.989431060927579	0.842
18	48447128	G	T	18	50920758	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon9:c.G942T:p.E314D;ME2:NM_002396:exon9:c.G942T:p.E314D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon9:c.G942T:p.E314D;ENSG00000082212:ENST00000321341:exon9:c.G942T:p.E314D;	0.982264481720389	0.782
18	48447129	G	A	18	50920759	y	y	splicing	ME2(NM_001168335:exon9:c.942+1G>A;NM_002396:exon9:c.942+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.942+1G>A;ENST00000382927:exon9:c.942+1G>A)	.	.	0.999990361384395	0.938
18	48447129	G	C	18	50920759	y	y	splicing	ME2(NM_001168335:exon9:c.942+1G>C;NM_002396:exon9:c.942+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.942+1G>C;ENST00000382927:exon9:c.942+1G>C)	.	.	0.999990361384395	0.938
18	48447129	G	T	18	50920759	y	y	splicing	ME2(NM_001168335:exon9:c.942+1G>T;NM_002396:exon9:c.942+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.942+1G>T;ENST00000382927:exon9:c.942+1G>T)	.	.	0.999990361384395	0.938
18	48447130	T	A	18	50920760	y	y	splicing	ME2(NM_001168335:exon9:c.942+2T>A;NM_002396:exon9:c.942+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.942+2T>A;ENST00000382927:exon9:c.942+2T>A)	.	.	0.999988247793601	0.93
18	48447130	T	C	18	50920760	y	y	splicing	ME2(NM_001168335:exon9:c.942+2T>C;NM_002396:exon9:c.942+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.942+2T>C;ENST00000382927:exon9:c.942+2T>C)	.	.	0.99416530160294	0.72
18	48447130	T	G	18	50920760	y	y	splicing	ME2(NM_001168335:exon9:c.942+2T>G;NM_002396:exon9:c.942+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon9:c.942+2T>G;ENST00000382927:exon9:c.942+2T>G)	.	.	0.999988247793601	0.93
18	48447131	A	C	18	50920761	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.903708538273971	0.736
18	48447131	A	G	18	50920761	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.015481729187503	0.136
18	48447131	A	T	18	50920761	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.955788197523999	0.682
18	48447132	A	C	18	50920762	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0164538128451331	0.234
18	48447132	A	G	18	50920762	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.338989594367576	0.306
18	48447132	A	T	18	50920762	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0840597322725708	0.22
18	48447133	G	A	18	50920763	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.989744143036248	0.848
18	48447133	G	C	18	50920763	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.840766437048073	0.64
18	48447133	G	T	18	50920763	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.912420166001188	0.68
18	48447134	T	A	18	50920764	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.102900357833821	0.316
18	48447134	T	C	18	50920764	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0589555210870015	0.296
18	48447134	T	G	18	50920764	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00417835673240115	0.18
18	48447135	T	A	18	50920765	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00375761769531031	0.014
18	48447135	T	C	18	50920765	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00375761769531031	0.008
18	48447135	T	G	18	50920765	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00156982018578896	0.004
18	48447136	T	A	18	50920766	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.35697579118787E-5	0.0
18	48447136	T	C	18	50920766	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.59797615271383E-5	0.0
18	48447136	T	G	18	50920766	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.59797615271383E-5	0.004
18	48447432	T	A	18	50921062	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0672712972058162	0.352
18	48447432	T	C	18	50921062	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.39330587981554E-4	0.052
18	48447432	T	G	18	50921062	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00993304084282642	0.176
18	48447433	T	A	18	50921063	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.423269401787267	0.498
18	48447433	T	C	18	50921063	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0112319586827592	0.12
18	48447433	T	G	18	50921063	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.222529744272725	0.448
18	48447434	T	A	18	50921064	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999862584053595	0.988
18	48447434	T	C	18	50921064	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.35112676393705E-4	0.04
18	48447434	T	G	18	50921064	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0538523612091323	0.388
18	48447435	G	A	18	50921065	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.84772497126618E-5	0.002
18	48447435	G	C	18	50921065	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.08959060299365E-5	0.0
18	48447435	G	T	18	50921065	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.72992372791788E-5	0.008
18	48447436	T	A	18	50921066	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0886769880184334	0.362
18	48447436	T	C	18	50921066	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.98311836738315E-4	0.0
18	48447436	T	G	18	50921066	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00784294634963502	0.2
18	48447437	T	A	18	50921067	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999940360818834	0.98
18	48447437	T	C	18	50921067	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00351746351725739	0.136
18	48447437	T	G	18	50921067	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.607040606921256	0.484
18	48447438	G	A	18	50921068	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.27332471164224E-4	0.01
18	48447438	G	C	18	50921068	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.4880593531482E-4	0.03
18	48447438	G	T	18	50921068	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.4880593531482E-4	0.042
18	48447439	A	C	18	50921069	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.15946370133862E-5	0.002
18	48447439	A	G	18	50921069	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.5700581028973E-5	0.002
18	48447439	A	T	18	50921069	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.59994171366232E-5	0.004
18	48447440	A	C	18	50921070	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.98807196506657E-4	0.036
18	48447440	A	G	18	50921070	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.879805610765382	0.78
18	48447440	A	T	18	50921070	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.56053913035769E-4	0.024
18	48447441	C	A	18	50921071	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.988127221199186	0.858
18	48447441	C	G	18	50921071	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999612555170814	0.976
18	48447441	C	T	18	50921071	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0144930754496631	0.186
18	48447442	A	C	18	50921072	y	y	splicing	ME2(NM_001168335:exon10:c.943-2A>C;NM_002396:exon10:c.943-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.943-2A>C;ENST00000382927:exon10:c.943-2A>C)	.	.	0.999986741007567	0.946
18	48447442	A	G	18	50921072	y	y	splicing	ME2(NM_001168335:exon10:c.943-2A>G;NM_002396:exon10:c.943-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.943-2A>G;ENST00000382927:exon10:c.943-2A>G)	.	.	0.999986741007567	0.946
18	48447442	A	T	18	50921072	y	y	splicing	ME2(NM_001168335:exon10:c.943-2A>T;NM_002396:exon10:c.943-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.943-2A>T;ENST00000382927:exon10:c.943-2A>T)	.	.	0.999986741007567	0.946
18	48447443	G	A	18	50921073	y	y	splicing	ME2(NM_001168335:exon10:c.943-1G>A;NM_002396:exon10:c.943-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.943-1G>A;ENST00000382927:exon10:c.943-1G>A)	.	.	0.999989125585301	0.944
18	48447443	G	C	18	50921073	y	y	splicing	ME2(NM_001168335:exon10:c.943-1G>C;NM_002396:exon10:c.943-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.943-1G>C;ENST00000382927:exon10:c.943-1G>C)	.	.	0.999989125585301	0.944
18	48447443	G	T	18	50921073	y	y	splicing	ME2(NM_001168335:exon10:c.943-1G>T;NM_002396:exon10:c.943-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.943-1G>T;ENST00000382927:exon10:c.943-1G>T)	.	.	0.999989125585301	0.944
18	48447444	G	A	18	50921074	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.G943A:p.A315T;ME2:NM_002396:exon10:c.G943A:p.A315T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.G943A:p.A315T;ENSG00000082212:ENST00000321341:exon10:c.G943A:p.A315T;	0.999819577949413	0.896
18	48447444	G	C	18	50921074	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.G943C:p.A315P;ME2:NM_002396:exon10:c.G943C:p.A315P;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.G943C:p.A315P;ENSG00000082212:ENST00000321341:exon10:c.G943C:p.A315P;	0.999879665624504	0.986
18	48447444	G	T	18	50921074	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.G943T:p.A315S;ME2:NM_002396:exon10:c.G943T:p.A315S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.G943T:p.A315S;ENSG00000082212:ENST00000321341:exon10:c.G943T:p.A315S;	0.999901548913697	0.966
18	48447445	C	A	18	50921075	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.C944A:p.A315D;ME2:NM_002396:exon10:c.C944A:p.A315D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.C944A:p.A315D;ENSG00000082212:ENST00000321341:exon10:c.C944A:p.A315D;	0.991799977524361	0.842
18	48447445	C	G	18	50921075	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.C944G:p.A315G;ME2:NM_002396:exon10:c.C944G:p.A315G;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.C944G:p.A315G;ENSG00000082212:ENST00000321341:exon10:c.C944G:p.A315G;	0.985234026847264	0.828
18	48447445	C	T	18	50921075	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.C944T:p.A315V;ME2:NM_002396:exon10:c.C944T:p.A315V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.C944T:p.A315V;ENSG00000082212:ENST00000321341:exon10:c.C944T:p.A315V;	0.980738302444458	0.806
18	48447555	A	C	18	50921185	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.A1054C:p.K352Q;ME2:NM_002396:exon10:c.A1054C:p.K352Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.A1054C:p.K352Q;ENSG00000082212:ENST00000321341:exon10:c.A1054C:p.K352Q;	0.0293291282104656	0.266
18	48447555	A	G	18	50921185	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.A1054G:p.K352E;ME2:NM_002396:exon10:c.A1054G:p.K352E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.A1054G:p.K352E;ENSG00000082212:ENST00000321341:exon10:c.A1054G:p.K352E;	0.080408309969319	0.338
18	48447555	A	T	18	50921185	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon10:c.A1054T:p.K352X;ME2:NM_002396:exon10:c.A1054T:p.K352X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon10:c.A1054T:p.K352X;ENSG00000082212:ENST00000321341:exon10:c.A1054T:p.K352X;	0.946814922302491	0.668
18	48447556	A	C	18	50921186	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.A1055C:p.K352T;ME2:NM_002396:exon10:c.A1055C:p.K352T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.A1055C:p.K352T;ENSG00000082212:ENST00000321341:exon10:c.A1055C:p.K352T;	0.974252543312773	0.878
18	48447556	A	G	18	50921186	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.A1055G:p.K352R;ME2:NM_002396:exon10:c.A1055G:p.K352R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.A1055G:p.K352R;ENSG00000082212:ENST00000321341:exon10:c.A1055G:p.K352R;	0.994475584150778	0.958
18	48447556	A	T	18	50921186	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.A1055T:p.K352M;ME2:NM_002396:exon10:c.A1055T:p.K352M;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.A1055T:p.K352M;ENSG00000082212:ENST00000321341:exon10:c.A1055T:p.K352M;	0.992443752334073	0.626
18	48447557	G	A	18	50921187	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon10:c.G1056A:p.K352K;ME2:NM_002396:exon10:c.G1056A:p.K352K;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.G1056A:p.K352K;ENSG00000082212:ENST00000321341:exon10:c.G1056A:p.K352K;	0.995834732076857	0.968
18	48447557	G	C	18	50921187	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.G1056C:p.K352N;ME2:NM_002396:exon10:c.G1056C:p.K352N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.G1056C:p.K352N;ENSG00000082212:ENST00000321341:exon10:c.G1056C:p.K352N;	0.999943745475143	0.944
18	48447557	G	T	18	50921187	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon10:c.G1056T:p.K352N;ME2:NM_002396:exon10:c.G1056T:p.K352N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon10:c.G1056T:p.K352N;ENSG00000082212:ENST00000321341:exon10:c.G1056T:p.K352N;	0.999893365663922	0.97
18	48447558	G	A	18	50921188	y	y	splicing	ME2(NM_001168335:exon10:c.1056+1G>A;NM_002396:exon10:c.1056+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.1056+1G>A;ENST00000382927:exon10:c.1056+1G>A)	.	.	0.999985532734767	0.936
18	48447558	G	C	18	50921188	y	y	splicing	ME2(NM_001168335:exon10:c.1056+1G>C;NM_002396:exon10:c.1056+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.1056+1G>C;ENST00000382927:exon10:c.1056+1G>C)	.	.	0.999985532734767	0.936
18	48447558	G	T	18	50921188	y	y	splicing	ME2(NM_001168335:exon10:c.1056+1G>T;NM_002396:exon10:c.1056+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.1056+1G>T;ENST00000382927:exon10:c.1056+1G>T)	.	.	0.999985532734767	0.936
18	48447559	T	A	18	50921189	y	y	splicing	ME2(NM_001168335:exon10:c.1056+2T>A;NM_002396:exon10:c.1056+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.1056+2T>A;ENST00000382927:exon10:c.1056+2T>A)	.	.	0.999988247793601	0.928
18	48447559	T	C	18	50921189	y	y	splicing	ME2(NM_001168335:exon10:c.1056+2T>C;NM_002396:exon10:c.1056+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.1056+2T>C;ENST00000382927:exon10:c.1056+2T>C)	.	.	0.99340600729494	0.666
18	48447559	T	G	18	50921189	y	y	splicing	ME2(NM_001168335:exon10:c.1056+2T>G;NM_002396:exon10:c.1056+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon10:c.1056+2T>G;ENST00000382927:exon10:c.1056+2T>G)	.	.	0.999988247793601	0.928
18	48447560	A	C	18	50921190	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.996841880806603	0.752
18	48447560	A	G	18	50921190	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0177417517492554	0.158
18	48447560	A	T	18	50921190	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.942913893909612	0.638
18	48447561	A	C	18	50921191	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.978182659883756	0.74
18	48447561	A	G	18	50921191	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.997168463394936	0.764
18	48447561	A	T	18	50921191	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.979461632202979	0.828
18	48447562	G	A	18	50921192	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.635309989694674	0.546
18	48447562	G	C	18	50921192	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.231333643119942	0.552
18	48447562	G	T	18	50921192	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.276814297039551	0.502
18	48447563	G	A	18	50921193	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.13258578653541E-4	0.02
18	48447563	G	C	18	50921193	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.433629209914E-4	0.004
18	48447563	G	T	18	50921193	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.56865791822641E-5	0.0
18	48447564	T	A	18	50921194	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.55472960422104E-5	0.0
18	48447564	T	C	18	50921194	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.61083990065331E-5	0.0
18	48447564	T	G	18	50921194	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.61083990065331E-5	0.0
18	48447565	A	C	18	50921195	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.54583771157E-5	0.002
18	48447565	A	G	18	50921195	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.54583771157E-5	0.0
18	48447565	A	T	18	50921195	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.54583771157E-5	0.002
18	48450456	C	A	18	50924086	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00112439195923339	0.094
18	48450456	C	G	18	50924086	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00111514606628968	0.088
18	48450456	C	T	18	50924086	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.22259217258724E-5	0.062
18	48450457	T	A	18	50924087	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.592090643400019	0.582
18	48450457	T	C	18	50924087	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00693851314000602	0.272
18	48450457	T	G	18	50924087	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.582385281059667	0.564
18	48450458	C	A	18	50924088	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.00663625427177E-4	0.09
18	48450458	C	G	18	50924088	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00139114204455227	0.094
18	48450458	C	T	18	50924088	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.68941210984868E-4	0.062
18	48450459	A	C	18	50924089	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.82946685506306E-4	0.032
18	48450459	A	G	18	50924089	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00365317433160321	0.134
18	48450459	A	T	18	50924089	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00211319986446121	0.052
18	48450460	A	C	18	50924090	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.57803879338588E-6	0.0
18	48450460	A	G	18	50924090	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.977992569302908	0.942
18	48450460	A	T	18	50924090	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.06466415852547E-5	0.022
18	48450461	A	C	18	50924091	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.69818219027614E-4	0.012
18	48450461	A	G	18	50924091	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998521604702371	0.982
18	48450461	A	T	18	50924091	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.995782303319E-4	0.044
18	48450462	A	C	18	50924092	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.74114186787615E-5	0.018
18	48450462	A	G	18	50924092	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.996499928374197	0.946
18	48450462	A	T	18	50924092	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.02333575683264E-4	0.034
18	48450463	T	A	18	50924093	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.42562612160683	0.52
18	48450463	T	C	18	50924093	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0011115892142409	0.12
18	48450463	T	G	18	50924093	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999274199961373	0.954
18	48450464	T	A	18	50924094	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.28421225749623E-4	0.026
18	48450464	T	C	18	50924094	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.29139655931916E-5	0.022
18	48450464	T	G	18	50924094	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.66798789202749E-4	0.016
18	48450465	T	A	18	50924095	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.032541674509833	0.242
18	48450465	T	C	18	50924095	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.50005710457449E-5	0.016
18	48450465	T	G	18	50924095	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.375126720877678	0.53
18	48450466	A	C	18	50924096	y	y	splicing	ME2(NM_001168335:exon11:c.1057-2A>C;NM_002396:exon11:c.1057-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1057-2A>C;ENST00000382927:exon11:c.1057-2A>C)	.	.	0.99989456260789	0.914
18	48450466	A	G	18	50924096	y	y	splicing	ME2(NM_001168335:exon11:c.1057-2A>G;NM_002396:exon11:c.1057-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1057-2A>G;ENST00000382927:exon11:c.1057-2A>G)	.	.	0.99989456260789	0.914
18	48450466	A	T	18	50924096	y	y	splicing	ME2(NM_001168335:exon11:c.1057-2A>T;NM_002396:exon11:c.1057-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1057-2A>T;ENST00000382927:exon11:c.1057-2A>T)	.	.	0.99989456260789	0.898
18	48450467	G	A	18	50924097	y	y	splicing	ME2(NM_001168335:exon11:c.1057-1G>A;NM_002396:exon11:c.1057-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1057-1G>A;ENST00000382927:exon11:c.1057-1G>A)	.	.	0.999976193134234	0.902
18	48450467	G	C	18	50924097	y	y	splicing	ME2(NM_001168335:exon11:c.1057-1G>C;NM_002396:exon11:c.1057-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1057-1G>C;ENST00000382927:exon11:c.1057-1G>C)	.	.	0.999976193134234	0.908
18	48450467	G	T	18	50924097	y	y	splicing	ME2(NM_001168335:exon11:c.1057-1G>T;NM_002396:exon11:c.1057-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1057-1G>T;ENST00000382927:exon11:c.1057-1G>T)	.	.	0.999976193134234	0.904
18	48450468	G	A	18	50924098	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.G1057A:p.G353R;ME2:NM_002396:exon11:c.G1057A:p.G353R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.G1057A:p.G353R;ENSG00000082212:ENST00000321341:exon11:c.G1057A:p.G353R;	0.999864142520647	0.914
18	48450468	G	C	18	50924098	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.G1057C:p.G353R;ME2:NM_002396:exon11:c.G1057C:p.G353R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.G1057C:p.G353R;ENSG00000082212:ENST00000321341:exon11:c.G1057C:p.G353R;	0.999943199668614	0.914
18	48450468	G	T	18	50924098	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon11:c.G1057T:p.G353X;ME2:NM_002396:exon11:c.G1057T:p.G353X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon11:c.G1057T:p.G353X;ENSG00000082212:ENST00000321341:exon11:c.G1057T:p.G353X;	0.999912017670703	0.968
18	48450469	G	A	18	50924099	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.G1058A:p.G353E;ME2:NM_002396:exon11:c.G1058A:p.G353E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.G1058A:p.G353E;ENSG00000082212:ENST00000321341:exon11:c.G1058A:p.G353E;	9.22397241905495E-5	0.008
18	48450469	G	C	18	50924099	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.G1058C:p.G353A;ME2:NM_002396:exon11:c.G1058C:p.G353A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.G1058C:p.G353A;ENSG00000082212:ENST00000321341:exon11:c.G1058C:p.G353A;	4.6305974667052E-5	0.008
18	48450469	G	T	18	50924099	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.G1058T:p.G353V;ME2:NM_002396:exon11:c.G1058T:p.G353V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.G1058T:p.G353V;ENSG00000082212:ENST00000321341:exon11:c.G1058T:p.G353V;	6.89418507019736E-5	0.006
18	48450580	T	A	18	50924210	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.T1169A:p.I390N;ME2:NM_002396:exon11:c.T1169A:p.I390N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.T1169A:p.I390N;ENSG00000082212:ENST00000321341:exon11:c.T1169A:p.I390N;	0.624265781939146	0.602
18	48450580	T	C	18	50924210	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.T1169C:p.I390T;ME2:NM_002396:exon11:c.T1169C:p.I390T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.T1169C:p.I390T;ENSG00000082212:ENST00000321341:exon11:c.T1169C:p.I390T;	0.365478833233796	0.418
18	48450580	T	G	18	50924210	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.T1169G:p.I390S;ME2:NM_002396:exon11:c.T1169G:p.I390S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.T1169G:p.I390S;ENSG00000082212:ENST00000321341:exon11:c.T1169G:p.I390S;	0.518180031662769	0.446
18	48450581	T	A	18	50924211	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon11:c.T1170A:p.I390I;ME2:NM_002396:exon11:c.T1170A:p.I390I;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.T1170A:p.I390I;ENSG00000082212:ENST00000321341:exon11:c.T1170A:p.I390I;	1.00620573256903E-4	0.158
18	48450581	T	C	18	50924211	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon11:c.T1170C:p.I390I;ME2:NM_002396:exon11:c.T1170C:p.I390I;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.T1170C:p.I390I;ENSG00000082212:ENST00000321341:exon11:c.T1170C:p.I390I;	8.89133292406963E-5	0.042
18	48450581	T	G	18	50924211	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.T1170G:p.I390M;ME2:NM_002396:exon11:c.T1170G:p.I390M;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.T1170G:p.I390M;ENSG00000082212:ENST00000321341:exon11:c.T1170G:p.I390M;	1.4051827661877E-4	0.122
18	48450582	G	A	18	50924212	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.G1171A:p.G391R;ME2:NM_002396:exon11:c.G1171A:p.G391R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.G1171A:p.G391R;ENSG00000082212:ENST00000321341:exon11:c.G1171A:p.G391R;	0.999992862199931	1.0
18	48450582	G	C	18	50924212	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon11:c.G1171C:p.G391R;ME2:NM_002396:exon11:c.G1171C:p.G391R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon11:c.G1171C:p.G391R;ENSG00000082212:ENST00000321341:exon11:c.G1171C:p.G391R;	0.999992127327534	1.0
18	48450582	G	T	18	50924212	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon11:c.G1171T:p.G391X;ME2:NM_002396:exon11:c.G1171T:p.G391X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon11:c.G1171T:p.G391X;ENSG00000082212:ENST00000321341:exon11:c.G1171T:p.G391X;	0.999985510022013	0.968
18	48450583	G	A	18	50924213	y	y	splicing	ME2(NM_001168335:exon11:c.1171+1G>A;NM_002396:exon11:c.1171+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1171+1G>A;ENST00000382927:exon11:c.1171+1G>A)	.	.	0.999989072007339	0.934
18	48450583	G	C	18	50924213	y	y	splicing	ME2(NM_001168335:exon11:c.1171+1G>C;NM_002396:exon11:c.1171+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1171+1G>C;ENST00000382927:exon11:c.1171+1G>C)	.	.	0.999989072007339	0.934
18	48450583	G	T	18	50924213	y	y	splicing	ME2(NM_001168335:exon11:c.1171+1G>T;NM_002396:exon11:c.1171+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1171+1G>T;ENST00000382927:exon11:c.1171+1G>T)	.	.	0.999989072007339	0.934
18	48450584	T	A	18	50924214	y	y	splicing	ME2(NM_001168335:exon11:c.1171+2T>A;NM_002396:exon11:c.1171+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1171+2T>A;ENST00000382927:exon11:c.1171+2T>A)	.	.	0.999988247793601	0.926
18	48450584	T	C	18	50924214	y	y	splicing	ME2(NM_001168335:exon11:c.1171+2T>C;NM_002396:exon11:c.1171+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1171+2T>C;ENST00000382927:exon11:c.1171+2T>C)	.	.	0.986973409415639	0.654
18	48450584	T	G	18	50924214	y	y	splicing	ME2(NM_001168335:exon11:c.1171+2T>G;NM_002396:exon11:c.1171+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon11:c.1171+2T>G;ENST00000382927:exon11:c.1171+2T>G)	.	.	0.999988247793601	0.926
18	48450585	A	C	18	50924215	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999207424160896	0.88
18	48450585	A	G	18	50924215	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.642762996455105	0.428
18	48450585	A	T	18	50924215	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.992737686492184	0.832
18	48450586	G	A	18	50924216	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.59228495671649E-5	0.062
18	48450586	G	C	18	50924216	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.19412313853623E-4	0.046
18	48450586	G	T	18	50924216	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.8516303367895E-5	0.03
18	48450587	G	A	18	50924217	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999976229305177	0.98
18	48450587	G	C	18	50924217	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999972936645913	0.978
18	48450587	G	T	18	50924217	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999977537648937	0.992
18	48450588	T	A	18	50924218	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.970044672112577	0.55
18	48450588	T	C	18	50924218	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.711233311019465	0.482
18	48450588	T	G	18	50924218	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.894237500219548	0.672
18	48450589	A	C	18	50924219	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.06901716179216E-4	0.002
18	48450589	A	G	18	50924219	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.29869744923514E-4	0.014
18	48450589	A	T	18	50924219	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00177539734674723	0.056
18	48450590	A	C	18	50924220	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.56922368691864E-4	0.0
18	48450590	A	G	18	50924220	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.20976691638488E-4	0.0
18	48450590	A	T	18	50924220	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.56922368691864E-4	0.004
18	48452114	T	A	18	50925744	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0214728222769593	0.324
18	48452114	T	C	18	50925744	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.26070687743541E-4	0.018
18	48452114	T	G	18	50925744	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.014417183829781	0.334
18	48452115	A	C	18	50925745	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.11400092345905E-5	0.002
18	48452115	A	G	18	50925745	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.69111287406717E-5	0.002
18	48452115	A	T	18	50925745	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.38269420917189E-5	0.016
18	48452116	C	A	18	50925746	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.4073766141165E-4	0.028
18	48452116	C	G	18	50925746	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998716727422263	0.976
18	48452116	C	T	18	50925746	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.58521013633849E-5	0.0
18	48452117	T	A	18	50925747	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00215478005189431	0.084
18	48452117	T	C	18	50925747	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.28898274041057E-5	0.042
18	48452117	T	G	18	50925747	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00296067840933107	0.082
18	48452118	T	A	18	50925748	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00814597914010583	0.084
18	48452118	T	C	18	50925748	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.94694018307755E-5	0.0
18	48452118	T	G	18	50925748	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0270785483374663	0.282
18	48452119	A	C	18	50925749	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.18495325728737E-5	0.004
18	48452119	A	G	18	50925749	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.00787505764898E-5	0.004
18	48452119	A	T	18	50925749	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.25560798144964E-5	0.002
18	48452120	T	A	18	50925750	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.268611221281421	0.426
18	48452120	T	C	18	50925750	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.41431859135449E-4	0.11
18	48452120	T	G	18	50925750	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999954428311552	0.964
18	48452121	T	A	18	50925751	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.449830132054152	0.584
18	48452121	T	C	18	50925751	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00156618041590949	0.128
18	48452121	T	G	18	50925751	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.717201457896452	0.59
18	48452122	A	C	18	50925752	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.06535711957488E-4	0.152
18	48452122	A	G	18	50925752	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00151969783176543	0.266
18	48452122	A	T	18	50925752	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.99954120251974E-5	0.01
18	48452123	C	A	18	50925753	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.652737446773063	0.374
18	48452123	C	G	18	50925753	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99247998070452	0.776
18	48452123	C	T	18	50925753	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00434981452850616	0.184
18	48452124	A	C	18	50925754	y	y	splicing	ME2(NM_001168335:exon12:c.1172-2A>C;NM_002396:exon12:c.1172-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1172-2A>C;ENST00000382927:exon12:c.1172-2A>C)	.	.	0.999988247793601	0.946
18	48452124	A	G	18	50925754	y	y	splicing	ME2(NM_001168335:exon12:c.1172-2A>G;NM_002396:exon12:c.1172-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1172-2A>G;ENST00000382927:exon12:c.1172-2A>G)	.	.	0.999988247793601	0.946
18	48452124	A	T	18	50925754	y	y	splicing	ME2(NM_001168335:exon12:c.1172-2A>T;NM_002396:exon12:c.1172-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1172-2A>T;ENST00000382927:exon12:c.1172-2A>T)	.	.	0.999988247793601	0.946
18	48452125	G	A	18	50925755	y	y	splicing	ME2(NM_001168335:exon12:c.1172-1G>A;NM_002396:exon12:c.1172-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1172-1G>A;ENST00000382927:exon12:c.1172-1G>A)	.	.	0.999989263107695	0.952
18	48452125	G	C	18	50925755	y	y	splicing	ME2(NM_001168335:exon12:c.1172-1G>C;NM_002396:exon12:c.1172-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1172-1G>C;ENST00000382927:exon12:c.1172-1G>C)	.	.	0.999989263107695	0.952
18	48452125	G	T	18	50925755	y	y	splicing	ME2(NM_001168335:exon12:c.1172-1G>T;NM_002396:exon12:c.1172-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1172-1G>T;ENST00000382927:exon12:c.1172-1G>T)	.	.	0.999989263107695	0.952
18	48452126	G	A	18	50925756	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.G1172A:p.G391E;ME2:NM_002396:exon12:c.G1172A:p.G391E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.G1172A:p.G391E;ENSG00000082212:ENST00000321341:exon12:c.G1172A:p.G391E;	0.999757758923129	0.916
18	48452126	G	C	18	50925756	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.G1172C:p.G391A;ME2:NM_002396:exon12:c.G1172C:p.G391A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.G1172C:p.G391A;ENSG00000082212:ENST00000321341:exon12:c.G1172C:p.G391A;	0.99986944985397	0.988
18	48452126	G	T	18	50925756	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.G1172T:p.G391V;ME2:NM_002396:exon12:c.G1172T:p.G391V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.G1172T:p.G391V;ENSG00000082212:ENST00000321341:exon12:c.G1172T:p.G391V;	0.999944419071311	0.998
18	48452127	A	C	18	50925757	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon12:c.A1173C:p.G391G;ME2:NM_002396:exon12:c.A1173C:p.G391G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.A1173C:p.G391G;ENSG00000082212:ENST00000321341:exon12:c.A1173C:p.G391G;	8.00045547078843E-4	0.068
18	48452127	A	G	18	50925757	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon12:c.A1173G:p.G391G;ME2:NM_002396:exon12:c.A1173G:p.G391G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.A1173G:p.G391G;ENSG00000082212:ENST00000321341:exon12:c.A1173G:p.G391G;	4.44517596866007E-4	0.022
18	48452127	A	T	18	50925757	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon12:c.A1173T:p.G391G;ME2:NM_002396:exon12:c.A1173T:p.G391G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.A1173T:p.G391G;ENSG00000082212:ENST00000321341:exon12:c.A1173T:p.G391G;	1.52837467653431E-4	0.002
18	48452266	G	A	18	50925896	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.G1312A:p.E438K;ME2:NM_002396:exon12:c.G1312A:p.E438K;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.G1312A:p.E438K;ENSG00000082212:ENST00000321341:exon12:c.G1312A:p.E438K;	9.67666539626902E-5	0.008
18	48452266	G	C	18	50925896	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.G1312C:p.E438Q;ME2:NM_002396:exon12:c.G1312C:p.E438Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.G1312C:p.E438Q;ENSG00000082212:ENST00000321341:exon12:c.G1312C:p.E438Q;	7.17536086635935E-5	0.004
18	48452266	G	T	18	50925896	y	y	exonic	ME2	stopgain SNV	ME2:NM_001168335:exon12:c.G1312T:p.E438X;ME2:NM_002396:exon12:c.G1312T:p.E438X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000382927:exon12:c.G1312T:p.E438X;ENSG00000082212:ENST00000321341:exon12:c.G1312T:p.E438X;	0.245019895239427	0.444
18	48452267	A	C	18	50925897	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.A1313C:p.E438A;ME2:NM_002396:exon12:c.A1313C:p.E438A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.A1313C:p.E438A;ENSG00000082212:ENST00000321341:exon12:c.A1313C:p.E438A;	0.999942978810259	0.998
18	48452267	A	G	18	50925897	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.A1313G:p.E438G;ME2:NM_002396:exon12:c.A1313G:p.E438G;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.A1313G:p.E438G;ENSG00000082212:ENST00000321341:exon12:c.A1313G:p.E438G;	0.999978764419307	0.996
18	48452267	A	T	18	50925897	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.A1313T:p.E438V;ME2:NM_002396:exon12:c.A1313T:p.E438V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.A1313T:p.E438V;ENSG00000082212:ENST00000321341:exon12:c.A1313T:p.E438V;	0.999978407561987	1.0
18	48452268	G	A	18	50925898	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon12:c.G1314A:p.E438E;ME2:NM_002396:exon12:c.G1314A:p.E438E;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.G1314A:p.E438E;ENSG00000082212:ENST00000321341:exon12:c.G1314A:p.E438E;	0.999994485682616	1.0
18	48452268	G	C	18	50925898	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.G1314C:p.E438D;ME2:NM_002396:exon12:c.G1314C:p.E438D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.G1314C:p.E438D;ENSG00000082212:ENST00000321341:exon12:c.G1314C:p.E438D;	0.999985709749233	0.994
18	48452268	G	T	18	50925898	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon12:c.G1314T:p.E438D;ME2:NM_002396:exon12:c.G1314T:p.E438D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon12:c.G1314T:p.E438D;ENSG00000082212:ENST00000321341:exon12:c.G1314T:p.E438D;	0.999984952443793	0.986
18	48452269	G	A	18	50925899	y	y	splicing	ME2(NM_001168335:exon12:c.1314+1G>A;NM_002396:exon12:c.1314+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1314+1G>A;ENST00000382927:exon12:c.1314+1G>A)	.	.	0.999988630721284	0.938
18	48452269	G	C	18	50925899	y	y	splicing	ME2(NM_001168335:exon12:c.1314+1G>C;NM_002396:exon12:c.1314+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1314+1G>C;ENST00000382927:exon12:c.1314+1G>C)	.	.	0.999988630721284	0.938
18	48452269	G	T	18	50925899	y	y	splicing	ME2(NM_001168335:exon12:c.1314+1G>T;NM_002396:exon12:c.1314+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1314+1G>T;ENST00000382927:exon12:c.1314+1G>T)	.	.	0.999988630721284	0.938
18	48452270	T	A	18	50925900	y	y	splicing	ME2(NM_001168335:exon12:c.1314+2T>A;NM_002396:exon12:c.1314+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1314+2T>A;ENST00000382927:exon12:c.1314+2T>A)	.	.	0.999990764389106	0.94
18	48452270	T	C	18	50925900	y	y	splicing	ME2(NM_001168335:exon12:c.1314+2T>C;NM_002396:exon12:c.1314+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1314+2T>C;ENST00000382927:exon12:c.1314+2T>C)	.	.	0.994810718140091	0.65
18	48452270	T	G	18	50925900	y	y	splicing	ME2(NM_001168335:exon12:c.1314+2T>G;NM_002396:exon12:c.1314+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon12:c.1314+2T>G;ENST00000382927:exon12:c.1314+2T>G)	.	.	0.999990764389106	0.94
18	48452271	A	C	18	50925901	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999940892569965	0.99
18	48452271	A	G	18	50925901	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999806533881056	0.98
18	48452271	A	T	18	50925901	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999940892569965	0.98
18	48452272	T	A	18	50925902	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.13980508187535E-5	0.07
18	48452272	T	C	18	50925902	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.89627217993607E-4	0.022
18	48452272	T	G	18	50925902	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.54968174380792E-5	0.02
18	48452273	T	A	18	50925903	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.04474580745532E-4	0.062
18	48452273	T	C	18	50925903	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.55097783481037E-4	0.026
18	48452273	T	G	18	50925903	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.53032502887655E-4	0.036
18	48452274	A	C	18	50925904	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.60164073677952E-4	0.036
18	48452274	A	G	18	50925904	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.88599612253323E-5	0.064
18	48452274	A	T	18	50925904	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.16401692457836E-5	0.054
18	48452275	A	C	18	50925905	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.16680427783628E-5	0.0
18	48452275	A	G	18	50925905	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.16680427783628E-5	0.0
18	48452275	A	T	18	50925905	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00102209002691487	0.034
18	48452276	T	A	18	50925906	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.57583184312E-5	0.014
18	48452276	T	C	18	50925906	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.17898008187268E-4	0.106
18	48452276	T	G	18	50925906	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.18980700330643E-5	0.0
18	48458616	T	A	18	50932246	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.362704068408115	0.424
18	48458616	T	C	18	50932246	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.56741211123253E-4	0.008
18	48458616	T	G	18	50932246	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99975104972924	0.954
18	48458617	T	A	18	50932247	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0133820373859119	0.208
18	48458617	T	C	18	50932247	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.89911953630067E-4	0.03
18	48458617	T	G	18	50932247	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0376783504971854	0.218
18	48458618	T	A	18	50932248	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998590150825098	0.844
18	48458618	T	C	18	50932248	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.072277997131184	0.32
18	48458618	T	G	18	50932248	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.98606127791816	0.802
18	48458619	T	A	18	50932249	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.110829221523819	0.35
18	48458619	T	C	18	50932249	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.85913477065657E-4	0.044
18	48458619	T	G	18	50932249	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0774257940145976	0.32
18	48458620	A	C	18	50932250	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.43099908483724E-5	0.0
18	48458620	A	G	18	50932250	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.96323034491673E-5	0.0
18	48458620	A	T	18	50932250	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.43099908483724E-5	0.0
18	48458621	T	A	18	50932251	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.498072552128442	0.426
18	48458621	T	C	18	50932251	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.61203394199324E-5	0.008
18	48458621	T	G	18	50932251	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999898877262366	0.976
18	48458622	T	A	18	50932252	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0239891292063155	0.22
18	48458622	T	C	18	50932252	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.03105974294215E-5	0.0
18	48458622	T	G	18	50932252	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00964309894226182	0.276
18	48458623	A	C	18	50932253	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.91951932692011E-5	0.0
18	48458623	A	G	18	50932253	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.72060696342388E-4	0.014
18	48458623	A	T	18	50932253	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.91951932692011E-5	0.014
18	48458624	A	C	18	50932254	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.80895765808527E-4	0.004
18	48458624	A	G	18	50932254	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.930248968715393	0.786
18	48458624	A	T	18	50932254	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.719676022544E-4	0.024
18	48458625	C	A	18	50932255	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.936004670032061	0.766
18	48458625	C	G	18	50932255	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999827633174816	0.96
18	48458625	C	T	18	50932255	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0117291418098762	0.076
18	48458626	A	C	18	50932256	y	y	splicing	ME2(NM_001168335:exon13:c.1315-2A>C;NM_002396:exon13:c.1315-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1315-2A>C;ENST00000382927:exon13:c.1315-2A>C)	.	.	0.999988247793601	0.93
18	48458626	A	G	18	50932256	y	y	splicing	ME2(NM_001168335:exon13:c.1315-2A>G;NM_002396:exon13:c.1315-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1315-2A>G;ENST00000382927:exon13:c.1315-2A>G)	.	.	0.999988247793601	0.93
18	48458626	A	T	18	50932256	y	y	splicing	ME2(NM_001168335:exon13:c.1315-2A>T;NM_002396:exon13:c.1315-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1315-2A>T;ENST00000382927:exon13:c.1315-2A>T)	.	.	0.999988247793601	0.93
18	48458627	G	A	18	50932257	y	y	splicing	ME2(NM_001168335:exon13:c.1315-1G>A;NM_002396:exon13:c.1315-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1315-1G>A;ENST00000382927:exon13:c.1315-1G>A)	.	.	0.999989072007339	0.934
18	48458627	G	C	18	50932257	y	y	splicing	ME2(NM_001168335:exon13:c.1315-1G>C;NM_002396:exon13:c.1315-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1315-1G>C;ENST00000382927:exon13:c.1315-1G>C)	.	.	0.999989072007339	0.934
18	48458627	G	T	18	50932257	y	y	splicing	ME2(NM_001168335:exon13:c.1315-1G>T;NM_002396:exon13:c.1315-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1315-1G>T;ENST00000382927:exon13:c.1315-1G>T)	.	.	0.999989072007339	0.934
18	48458628	G	A	18	50932258	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1315A:p.G439S;ME2:NM_002396:exon13:c.G1315A:p.G439S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1315A:p.G439S;ENSG00000082212:ENST00000321341:exon13:c.G1315A:p.G439S;	0.999397056387183	0.978
18	48458628	G	C	18	50932258	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1315C:p.G439R;ME2:NM_002396:exon13:c.G1315C:p.G439R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1315C:p.G439R;ENSG00000082212:ENST00000321341:exon13:c.G1315C:p.G439R;	0.999758996560409	0.976
18	48458628	G	T	18	50932258	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1315T:p.G439C;ME2:NM_002396:exon13:c.G1315T:p.G439C;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1315T:p.G439C;ENSG00000082212:ENST00000321341:exon13:c.G1315T:p.G439C;	0.999855594875475	0.978
18	48458629	G	A	18	50932259	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1316A:p.G439D;ME2:NM_002396:exon13:c.G1316A:p.G439D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1316A:p.G439D;ENSG00000082212:ENST00000321341:exon13:c.G1316A:p.G439D;	0.97053039094997	0.83
18	48458629	G	C	18	50932259	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1316C:p.G439A;ME2:NM_002396:exon13:c.G1316C:p.G439A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1316C:p.G439A;ENSG00000082212:ENST00000321341:exon13:c.G1316C:p.G439A;	0.954684974364881	0.894
18	48458629	G	T	18	50932259	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1316T:p.G439V;ME2:NM_002396:exon13:c.G1316T:p.G439V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1316T:p.G439V;ENSG00000082212:ENST00000321341:exon13:c.G1316T:p.G439V;	0.974287870209685	0.878
18	48458728	C	A	18	50932358	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.C1415A:p.P472Q;ME2:NM_002396:exon13:c.C1415A:p.P472Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.C1415A:p.P472Q;ENSG00000082212:ENST00000321341:exon13:c.C1415A:p.P472Q;	0.962742850491569	0.808
18	48458728	C	G	18	50932358	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.C1415G:p.P472R;ME2:NM_002396:exon13:c.C1415G:p.P472R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.C1415G:p.P472R;ENSG00000082212:ENST00000321341:exon13:c.C1415G:p.P472R;	0.913115925510617	0.654
18	48458728	C	T	18	50932358	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.C1415T:p.P472L;ME2:NM_002396:exon13:c.C1415T:p.P472L;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.C1415T:p.P472L;ENSG00000082212:ENST00000321341:exon13:c.C1415T:p.P472L;	0.999091298163885	0.924
18	48458729	A	C	18	50932359	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon13:c.A1416C:p.P472P;ME2:NM_002396:exon13:c.A1416C:p.P472P;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.A1416C:p.P472P;ENSG00000082212:ENST00000321341:exon13:c.A1416C:p.P472P;	0.214963585721562	0.456
18	48458729	A	G	18	50932359	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon13:c.A1416G:p.P472P;ME2:NM_002396:exon13:c.A1416G:p.P472P;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.A1416G:p.P472P;ENSG00000082212:ENST00000321341:exon13:c.A1416G:p.P472P;	0.726460023997072	0.54
18	48458729	A	T	18	50932359	y	y	exonic	ME2	synonymous SNV	ME2:NM_001168335:exon13:c.A1416T:p.P472P;ME2:NM_002396:exon13:c.A1416T:p.P472P;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.A1416T:p.P472P;ENSG00000082212:ENST00000321341:exon13:c.A1416T:p.P472P;	0.846276286047693	0.664
18	48458730	G	A	18	50932360	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1417A:p.G473S;ME2:NM_002396:exon13:c.G1417A:p.G473S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1417A:p.G473S;ENSG00000082212:ENST00000321341:exon13:c.G1417A:p.G473S;	0.999989788026261	1.0
18	48458730	G	C	18	50932360	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1417C:p.G473R;ME2:NM_002396:exon13:c.G1417C:p.G473R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1417C:p.G473R;ENSG00000082212:ENST00000321341:exon13:c.G1417C:p.G473R;	0.999998122414291	1.0
18	48458730	G	T	18	50932360	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon13:c.G1417T:p.G473C;ME2:NM_002396:exon13:c.G1417T:p.G473C;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon13:c.G1417T:p.G473C;ENSG00000082212:ENST00000321341:exon13:c.G1417T:p.G473C;	0.999977868018173	0.99
18	48458731	G	A	18	50932361	y	y	splicing	ME2(NM_001168335:exon13:c.1417+1G>A;NM_002396:exon13:c.1417+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1417+1G>A;ENST00000382927:exon13:c.1417+1G>A)	.	.	0.999990361384395	0.938
18	48458731	G	C	18	50932361	y	y	splicing	ME2(NM_001168335:exon13:c.1417+1G>C;NM_002396:exon13:c.1417+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1417+1G>C;ENST00000382927:exon13:c.1417+1G>C)	.	.	0.999990361384395	0.938
18	48458731	G	T	18	50932361	y	y	splicing	ME2(NM_001168335:exon13:c.1417+1G>T;NM_002396:exon13:c.1417+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1417+1G>T;ENST00000382927:exon13:c.1417+1G>T)	.	.	0.999990361384395	0.938
18	48458732	T	A	18	50932362	y	y	splicing	ME2(NM_001168335:exon13:c.1417+2T>A;NM_002396:exon13:c.1417+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1417+2T>A;ENST00000382927:exon13:c.1417+2T>A)	.	.	0.999988247793601	0.93
18	48458732	T	C	18	50932362	y	y	splicing	ME2(NM_001168335:exon13:c.1417+2T>C;NM_002396:exon13:c.1417+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1417+2T>C;ENST00000382927:exon13:c.1417+2T>C)	.	.	0.98918007292081	0.682
18	48458732	T	G	18	50932362	y	y	splicing	ME2(NM_001168335:exon13:c.1417+2T>G;NM_002396:exon13:c.1417+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon13:c.1417+2T>G;ENST00000382927:exon13:c.1417+2T>G)	.	.	0.999988247793601	0.93
18	48458733	A	C	18	50932363	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998204551545018	0.884
18	48458733	A	G	18	50932363	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.745496816460735	0.666
18	48458733	A	T	18	50932363	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999515470209729	0.856
18	48458734	A	C	18	50932364	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.914347058480417	0.636
18	48458734	A	G	18	50932364	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.755742472876123	0.654
18	48458734	A	T	18	50932364	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.933693595193388	0.646
18	48458735	A	C	18	50932365	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.93523661243337E-4	0.03
18	48458735	A	G	18	50932365	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.2237255791277E-4	0.068
18	48458735	A	T	18	50932365	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.8750720292835E-4	0.006
18	48458736	T	A	18	50932366	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00661572506637764	0.152
18	48458736	T	C	18	50932366	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0770428149011515	0.32
18	48458736	T	G	18	50932366	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00157106526639205	0.196
18	48458737	G	A	18	50932367	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.32680755807521E-5	0.0
18	48458737	G	C	18	50932367	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.32680755807521E-5	0.0
18	48458737	G	T	18	50932367	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.83612663228112E-5	0.0
18	48458738	C	A	18	50932368	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.57940530555971E-5	0.002
18	48458738	C	G	18	50932368	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.58365692689783E-5	0.002
18	48458738	C	T	18	50932368	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.70880215545363E-5	0.002
18	48465928	A	C	18	50939558	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.72751646204061E-4	0.164
18	48465928	A	G	18	50939558	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998145598561919	0.94
18	48465928	A	T	18	50939558	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00102558897339536	0.23
18	48465929	A	C	18	50939559	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.05330584029283E-5	0.146
18	48465929	A	G	18	50939559	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998129481830258	0.942
18	48465929	A	T	18	50939559	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.25762875394849E-4	0.26
18	48465930	T	A	18	50939560	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999976909326702	0.96
18	48465930	T	C	18	50939560	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.263094072040809	0.452
18	48465930	T	G	18	50939560	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999979452617567	0.96
18	48465931	G	A	18	50939561	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.62704411640286E-5	0.052
18	48465931	G	C	18	50939561	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.50179156218414E-5	0.074
18	48465931	G	T	18	50939561	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.50179156218414E-5	0.072
18	48465932	T	A	18	50939562	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999913199440641	0.978
18	48465932	T	C	18	50939562	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0013823414389348	0.064
18	48465932	T	G	18	50939562	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.793314135469408	0.554
18	48465933	G	A	18	50939563	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.73107826197894E-4	0.012
18	48465933	G	C	18	50939563	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.47750496236111E-5	0.0
18	48465933	G	T	18	50939563	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.35503544090743E-5	0.022
18	48465934	T	A	18	50939564	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.967037923055424	0.778
18	48465934	T	C	18	50939564	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00100733882042591	0.094
18	48465934	T	G	18	50939564	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.990677136039702	0.798
18	48465935	T	A	18	50939565	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99829740143694	0.948
18	48465935	T	C	18	50939565	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.664460094901655	0.464
18	48465935	T	G	18	50939565	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998445697511565	0.944
18	48465936	C	A	18	50939566	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.33877885022347E-4	0.18
18	48465936	C	G	18	50939566	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.12562265022363E-4	0.088
18	48465936	C	T	18	50939566	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.76066992096016E-5	0.146
18	48465937	T	A	18	50939567	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0885509663156048	0.428
18	48465937	T	C	18	50939567	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.50718773388786E-4	0.044
18	48465937	T	G	18	50939567	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.900324775619194	0.592
18	48465938	A	C	18	50939568	y	y	splicing	ME2(NM_002396:exon14:c.1418-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1418-2A>C)	.	.	0.999979500261809	0.894
18	48465938	A	G	18	50939568	y	y	splicing	ME2(NM_002396:exon14:c.1418-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1418-2A>G)	.	.	0.999979500261809	0.894
18	48465938	A	T	18	50939568	y	y	splicing	ME2(NM_002396:exon14:c.1418-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1418-2A>T)	.	.	0.999979500261809	0.896
18	48465939	G	A	18	50939569	y	y	splicing	ME2(NM_002396:exon14:c.1418-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1418-1G>A)	.	.	0.999979394981131	0.912
18	48465939	G	C	18	50939569	y	y	splicing	ME2(NM_002396:exon14:c.1418-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1418-1G>C)	.	.	0.999979394981131	0.91
18	48465939	G	T	18	50939569	y	y	splicing	ME2(NM_002396:exon14:c.1418-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1418-1G>T)	.	.	0.999979394981131	0.912
18	48465940	G	A	18	50939570	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.G1418A:p.G473D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.G1418A:p.G473D;	0.730839639589628	0.752
18	48465940	G	C	18	50939570	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.G1418C:p.G473A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.G1418C:p.G473A;	0.983437802969559	0.914
18	48465940	G	T	18	50939570	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.G1418T:p.G473V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.G1418T:p.G473V;	0.997336358537699	0.94
18	48465941	T	A	18	50939571	y	y	exonic	ME2	synonymous SNV	ME2:NM_002396:exon14:c.T1419A:p.G473G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.T1419A:p.G473G;	0.00180701761446611	0.3
18	48465941	T	C	18	50939571	y	y	exonic	ME2	synonymous SNV	ME2:NM_002396:exon14:c.T1419C:p.G473G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.T1419C:p.G473G;	0.00255203518657406	0.14
18	48465941	T	G	18	50939571	y	y	exonic	ME2	synonymous SNV	ME2:NM_002396:exon14:c.T1419G:p.G473G;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.T1419G:p.G473G;	0.00108652628893656	0.166
18	48466008	A	C	18	50939638	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.A1486C:p.K496Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.A1486C:p.K496Q;	0.00639555371255093	0.024
18	48466008	A	G	18	50939638	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.A1486G:p.K496E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.A1486G:p.K496E;	2.87353464332277E-4	0.046
18	48466008	A	T	18	50939638	y	y	exonic	ME2	stopgain SNV	ME2:NM_002396:exon14:c.A1486T:p.K496X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000321341:exon14:c.A1486T:p.K496X;	0.945042352069738	0.674
18	48466009	A	C	18	50939639	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.A1487C:p.K496T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.A1487C:p.K496T;	0.997343654405181	0.852
18	48466009	A	G	18	50939639	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.A1487G:p.K496R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.A1487G:p.K496R;	0.997567490073483	0.934
18	48466009	A	T	18	50939639	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.A1487T:p.K496M;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.A1487T:p.K496M;	0.999678120645791	0.992
18	48466010	G	A	18	50939640	y	y	exonic	ME2	synonymous SNV	ME2:NM_002396:exon14:c.G1488A:p.K496K;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.G1488A:p.K496K;	0.99918545203072	0.988
18	48466010	G	C	18	50939640	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.G1488C:p.K496N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.G1488C:p.K496N;	0.999997131275151	0.99
18	48466010	G	T	18	50939640	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon14:c.G1488T:p.K496N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon14:c.G1488T:p.K496N;	0.999897366950922	0.976
18	48466011	G	A	18	50939641	y	y	splicing	ME2(NM_002396:exon14:c.1488+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1488+1G>A)	.	.	0.999983962310335	0.928
18	48466011	G	C	18	50939641	y	y	splicing	ME2(NM_002396:exon14:c.1488+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1488+1G>C)	.	.	0.999983962310335	0.928
18	48466011	G	T	18	50939641	y	y	splicing	ME2(NM_002396:exon14:c.1488+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1488+1G>T)	.	.	0.999983962310335	0.928
18	48466012	T	A	18	50939642	y	y	splicing	ME2(NM_002396:exon14:c.1488+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1488+2T>A)	.	.	0.999993519952936	0.93
18	48466012	T	C	18	50939642	y	y	splicing	ME2(NM_002396:exon14:c.1488+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1488+2T>C)	.	.	0.993596150545159	0.626
18	48466012	T	G	18	50939642	y	y	splicing	ME2(NM_002396:exon14:c.1488+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon14:c.1488+2T>G)	.	.	0.999993519952936	0.93
18	48466013	A	C	18	50939643	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999244220539196	0.864
18	48466013	A	G	18	50939643	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.965475850687992	0.796
18	48466013	A	T	18	50939643	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999849989510397	0.922
18	48466014	A	C	18	50939644	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.992430158565918	0.738
18	48466014	A	G	18	50939644	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.994125783190052	0.728
18	48466014	A	T	18	50939644	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.996916182250329	0.84
18	48466015	A	C	18	50939645	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.10736395059936E-4	0.024
18	48466015	A	G	18	50939645	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.74103173095178E-4	0.094
18	48466015	A	T	18	50939645	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.43953128509999E-4	0.008
18	48466016	T	A	18	50939646	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.501814713418418	0.324
18	48466016	T	C	18	50939646	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.761622010272834	0.404
18	48466016	T	G	18	50939646	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0588750601134343	0.264
18	48466017	G	A	18	50939647	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.46994432046984E-4	0.0
18	48466017	G	C	18	50939647	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.02729812761691E-4	0.0
18	48466017	G	T	18	50939647	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.68892355232294E-4	0.002
18	48466018	T	A	18	50939648	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.02214010452882E-5	0.002
18	48466018	T	C	18	50939648	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.38090722851431E-5	0.0
18	48466018	T	G	18	50939648	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.65823046292135E-5	0.0
18	48466646	T	A	18	50940276	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.76989990364406E-4	0.148
18	48466646	T	C	18	50940276	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.20391486855245E-4	0.038
18	48466646	T	G	18	50940276	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.11402851394401E-4	0.098
18	48466647	T	A	18	50940277	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.349214218805785	0.558
18	48466647	T	C	18	50940277	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.199556448845238	0.364
18	48466647	T	G	18	50940277	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.42528787849818	0.512
18	48466648	T	A	18	50940278	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.384746141012427	0.59
18	48466648	T	C	18	50940278	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.241676757530502	0.424
18	48466648	T	G	18	50940278	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.36824330349557	0.5
18	48466649	T	A	18	50940279	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.546020405434E-5	0.212
18	48466649	T	C	18	50940279	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.18583296415577E-5	0.116
18	48466649	T	G	18	50940279	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.60879113146022E-5	0.168
18	48466650	C	A	18	50940280	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00184001228523497	0.052
18	48466650	C	G	18	50940280	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00223735633255619	0.054
18	48466650	C	T	18	50940280	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.88314523237316E-4	0.006
18	48466651	T	A	18	50940281	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.06279658393466E-4	0.052
18	48466651	T	C	18	50940281	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.43881744717229E-5	0.002
18	48466651	T	G	18	50940281	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.10348665323936E-4	0.034
18	48466652	C	A	18	50940282	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00132724535745258	0.08
18	48466652	C	G	18	50940282	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	8.40778230110051E-4	0.1
18	48466652	C	T	18	50940282	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.7842174425283E-4	0.006
18	48466653	T	A	18	50940283	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.07238327235708E-4	0.086
18	48466653	T	C	18	50940283	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.76770895594961E-4	0.014
18	48466653	T	G	18	50940283	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.87017087945296E-4	0.15
18	48466654	T	A	18	50940284	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.98903535253387E-5	0.014
18	48466654	T	C	18	50940284	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.02576388268631E-5	0.006
18	48466654	T	G	18	50940284	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.68361991649154E-5	0.01
18	48466655	C	A	18	50940285	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.256368513601234	0.294
18	48466655	C	G	18	50940285	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999060385061628	0.766
18	48466655	C	T	18	50940285	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0045924128026112	0.186
18	48466656	A	C	18	50940286	y	y	splicing	ME2(NM_002396:exon15:c.1489-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1489-2A>C)	.	.	0.999988247793601	0.928
18	48466656	A	G	18	50940286	y	y	splicing	ME2(NM_002396:exon15:c.1489-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1489-2A>G)	.	.	0.999988247793601	0.928
18	48466656	A	T	18	50940286	y	y	splicing	ME2(NM_002396:exon15:c.1489-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1489-2A>T)	.	.	0.999988247793601	0.928
18	48466657	G	A	18	50940287	y	y	splicing	ME2(NM_002396:exon15:c.1489-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1489-1G>A)	.	.	0.999993288802665	0.932
18	48466657	G	C	18	50940287	y	y	splicing	ME2(NM_002396:exon15:c.1489-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1489-1G>C)	.	.	0.999993288802665	0.932
18	48466657	G	T	18	50940287	y	y	splicing	ME2(NM_002396:exon15:c.1489-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1489-1G>T)	.	.	0.999993288802665	0.932
18	48466658	G	A	18	50940288	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.G1489A:p.A497T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.G1489A:p.A497T;	0.988157969839142	0.584
18	48466658	G	C	18	50940288	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.G1489C:p.A497P;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.G1489C:p.A497P;	0.998308644524061	0.886
18	48466658	G	T	18	50940288	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.G1489T:p.A497S;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.G1489T:p.A497S;	0.996698934235822	0.822
18	48466659	C	A	18	50940289	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.C1490A:p.A497D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.C1490A:p.A497D;	0.993478769596085	0.852
18	48466659	C	G	18	50940289	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.C1490G:p.A497G;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.C1490G:p.A497G;	0.986677668168938	0.794
18	48466659	C	T	18	50940289	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.C1490T:p.A497V;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.C1490T:p.A497V;	0.938863588330615	0.758
18	48466754	A	C	18	50940384	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.A1585C:p.K529Q;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.A1585C:p.K529Q;	0.534942111331097	0.62
18	48466754	A	G	18	50940384	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.A1585G:p.K529E;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.A1585G:p.K529E;	0.324335746608276	0.45
18	48466754	A	T	18	50940384	y	y	exonic	ME2	stopgain SNV	ME2:NM_002396:exon15:c.A1585T:p.K529X;	exonic	ENSG00000082212	stopgain SNV	ENSG00000082212:ENST00000321341:exon15:c.A1585T:p.K529X;	0.934342452699549	0.674
18	48466755	A	C	18	50940385	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.A1586C:p.K529T;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.A1586C:p.K529T;	0.989967412224569	0.942
18	48466755	A	G	18	50940385	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.A1586G:p.K529R;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.A1586G:p.K529R;	0.972940801622703	0.822
18	48466755	A	T	18	50940385	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.A1586T:p.K529I;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.A1586T:p.K529I;	0.995173814476125	0.91
18	48466756	A	C	18	50940386	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.A1587C:p.K529N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.A1587C:p.K529N;	7.80906353361046E-4	0.026
18	48466756	A	G	18	50940386	y	y	exonic	ME2	synonymous SNV	ME2:NM_002396:exon15:c.A1587G:p.K529K;	exonic	ENSG00000082212	synonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.A1587G:p.K529K;	1.59391917674953E-4	0.03
18	48466756	A	T	18	50940386	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon15:c.A1587T:p.K529N;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon15:c.A1587T:p.K529N;	0.00143560257053931	0.044
18	48466757	G	A	18	50940387	y	y	splicing	ME2(NM_002396:exon15:c.1587+1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1587+1G>A)	.	.	0.999986675681007	0.932
18	48466757	G	C	18	50940387	y	y	splicing	ME2(NM_002396:exon15:c.1587+1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1587+1G>C)	.	.	0.999986675681007	0.932
18	48466757	G	T	18	50940387	y	y	splicing	ME2(NM_002396:exon15:c.1587+1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1587+1G>T)	.	.	0.999986675681007	0.932
18	48466758	T	A	18	50940388	y	y	splicing	ME2(NM_002396:exon15:c.1587+2T>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1587+2T>A)	.	.	0.999988247793601	0.926
18	48466758	T	C	18	50940388	y	y	splicing	ME2(NM_002396:exon15:c.1587+2T>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1587+2T>C)	.	.	0.991245725732999	0.618
18	48466758	T	G	18	50940388	y	y	splicing	ME2(NM_002396:exon15:c.1587+2T>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon15:c.1587+2T>G)	.	.	0.999988247793601	0.926
18	48466759	A	C	18	50940389	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999814433477602	0.946
18	48466759	A	G	18	50940389	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.566508734282788	0.378
18	48466759	A	T	18	50940389	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99571129369743	0.894
18	48466760	A	C	18	50940390	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.922633943003682	0.622
18	48466760	A	G	18	50940390	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.97844444163046	0.806
18	48466760	A	T	18	50940390	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.99621297603219	0.784
18	48466761	G	A	18	50940391	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.995458606534373	0.966
18	48466761	G	C	18	50940391	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.997061196434622	0.89
18	48466761	G	T	18	50940391	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.999382770666379	0.886
18	48466762	T	A	18	50940392	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.108959344671902	0.37
18	48466762	T	C	18	50940392	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0473378105363762	0.382
18	48466762	T	G	18	50940392	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0287163793991668	0.352
18	48466763	A	C	18	50940393	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.49240384135893E-5	0.0
18	48466763	A	G	18	50940393	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.49240384135893E-5	0.002
18	48466763	A	T	18	50940393	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.49240384135893E-5	0.0
18	48466764	A	C	18	50940394	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.16895845443693E-6	0.0
18	48466764	A	G	18	50940394	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.16895845443693E-6	0.0
18	48466764	A	T	18	50940394	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.89352173414093E-6	0.0
18	48473375	C	A	18	50947005	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.64037559515116E-5	0.006
18	48473375	C	G	18	50947005	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.61083014062225	0.752
18	48473375	C	T	18	50947005	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.98217107938215E-5	0.0
18	48473376	T	A	18	50947006	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.084124099529958	0.37
18	48473376	T	C	18	50947006	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	4.6200896555536E-4	0.046
18	48473376	T	G	18	50947006	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0432734190663252	0.352
18	48473377	T	A	18	50947007	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.101803782777995	0.338
18	48473377	T	C	18	50947007	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.86788484104783E-4	0.018
18	48473377	T	G	18	50947007	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0935704099496662	0.328
18	48473378	A	C	18	50947008	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	9.42772165726729E-6	0.0
18	48473378	A	G	18	50947008	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	3.95614763868099E-5	0.0
18	48473378	A	T	18	50947008	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.26749103011622E-5	0.0
18	48473379	T	A	18	50947009	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00267457872090583	0.054
18	48473379	T	C	18	50947009	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	5.23404003021325E-5	0.0
18	48473379	T	G	18	50947009	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.998298183045678	0.982
18	48473380	T	A	18	50947010	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0285265483421997	0.208
18	48473380	T	C	18	50947010	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	2.39716653885241E-4	0.002
18	48473380	T	G	18	50947010	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0122719842262953	0.216
18	48473381	T	A	18	50947011	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.711480410861414	0.478
18	48473381	T	C	18	50947011	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.00462909858405021	0.088
18	48473381	T	G	18	50947011	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.543283879379141	0.478
18	48473382	T	A	18	50947012	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.359220438792096	0.454
18	48473382	T	C	18	50947012	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	7.10591135510123E-4	0.04
18	48473382	T	G	18	50947012	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.698915070987316	0.444
18	48473383	T	A	18	50947013	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.23814939386984E-4	0.014
18	48473383	T	C	18	50947013	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	6.86049362696468E-5	0.002
18	48473383	T	G	18	50947013	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	1.66165413733234E-4	0.024
18	48473384	C	A	18	50947014	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.86110805975489	0.54
18	48473384	C	G	18	50947014	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.995680306245962	0.872
18	48473384	C	T	18	50947014	y	y	intronic	ME2	.	.	intronic	ENSG00000082212	.	.	0.0508790040302854	0.108
18	48473385	A	C	18	50947015	y	y	splicing	ME2(NM_001168335:exon14:c.1418-2A>C;NM_002396:exon16:c.1588-2A>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon16:c.1588-2A>C;ENST00000382927:exon14:c.1418-2A>C)	.	.	0.999988247793601	0.932
18	48473385	A	G	18	50947015	y	y	splicing	ME2(NM_001168335:exon14:c.1418-2A>G;NM_002396:exon16:c.1588-2A>G)	.	.	splicing	ENSG00000082212(ENST00000321341:exon16:c.1588-2A>G;ENST00000382927:exon14:c.1418-2A>G)	.	.	0.999988247793601	0.932
18	48473385	A	T	18	50947015	y	y	splicing	ME2(NM_001168335:exon14:c.1418-2A>T;NM_002396:exon16:c.1588-2A>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon16:c.1588-2A>T;ENST00000382927:exon14:c.1418-2A>T)	.	.	0.999988247793601	0.932
18	48473386	G	A	18	50947016	y	y	splicing	ME2(NM_001168335:exon14:c.1418-1G>A;NM_002396:exon16:c.1588-1G>A)	.	.	splicing	ENSG00000082212(ENST00000321341:exon16:c.1588-1G>A;ENST00000382927:exon14:c.1418-1G>A)	.	.	0.999989072007339	0.928
18	48473386	G	C	18	50947016	y	y	splicing	ME2(NM_001168335:exon14:c.1418-1G>C;NM_002396:exon16:c.1588-1G>C)	.	.	splicing	ENSG00000082212(ENST00000321341:exon16:c.1588-1G>C;ENST00000382927:exon14:c.1418-1G>C)	.	.	0.999989072007339	0.928
18	48473386	G	T	18	50947016	y	y	splicing	ME2(NM_001168335:exon14:c.1418-1G>T;NM_002396:exon16:c.1588-1G>T)	.	.	splicing	ENSG00000082212(ENST00000321341:exon16:c.1588-1G>T;ENST00000382927:exon14:c.1418-1G>T)	.	.	0.999989072007339	0.928
18	48473387	G	A	18	50947017	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon14:c.G1418A:p.G473D;ME2:NM_002396:exon16:c.G1588A:p.V530I;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon14:c.G1418A:p.G473D;ENSG00000082212:ENST00000321341:exon16:c.G1588A:p.V530I;	0.00121933216225014	0.196
18	48473387	G	C	18	50947017	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon14:c.G1418C:p.G473A;ME2:NM_002396:exon16:c.G1588C:p.V530L;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon14:c.G1418C:p.G473A;ENSG00000082212:ENST00000321341:exon16:c.G1588C:p.V530L;	0.148570116310511	0.43
18	48473387	G	T	18	50947017	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_001168335:exon14:c.G1418T:p.G473V;ME2:NM_002396:exon16:c.G1588T:p.V530F;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000382927:exon14:c.G1418T:p.G473V;ENSG00000082212:ENST00000321341:exon16:c.G1588T:p.V530F;	0.716298681661542	0.526
18	48473388	T	A	18	50947018	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon16:c.T1589A:p.V530D;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon16:c.T1589A:p.V530D;	0.25731568430866	0.492
18	48473388	T	C	18	50947018	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon16:c.T1589C:p.V530A;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon16:c.T1589C:p.V530A;	0.364421261957683	0.42
18	48473388	T	G	18	50947018	y	y	exonic	ME2	nonsynonymous SNV	ME2:NM_002396:exon16:c.T1589G:p.V530G;	exonic	ENSG00000082212	nonsynonymous SNV	ENSG00000082212:ENST00000321341:exon16:c.T1589G:p.V530G;	0.254009548518597	0.49
18	48494482	A	C	18	50968112	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	7.40934331106899E-4	0.05
18	48494482	A	G	18	50968112	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00316113133439176	0.094
18	48494482	A	T	18	50968112	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00541382614744313	0.252
18	48494483	G	A	18	50968113	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0276868351926712	0.184
18	48494483	G	C	18	50968113	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0664195394033868	0.38
18	48494483	G	T	18	50968113	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.112780345283995	0.384
18	48494484	G	A	18	50968114	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.998905571604578	0.942
18	48494484	G	C	18	50968114	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999780420879771	0.908
18	48494484	G	T	18	50968114	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999378346020652	0.984
18	48494485	G	A	18	50968115	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999990155693597	0.926
18	48494485	G	C	18	50968115	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999990155693597	0.924
18	48494485	G	T	18	50968115	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999990155693597	0.876
18	48494486	T	A	18	50968116	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999994723900236	0.926
18	48494486	T	C	18	50968116	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999952841816934	0.85
18	48494486	T	G	18	50968116	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999994723900236	0.924
18	48494487	G	A	18	50968117	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00665988505856693	0.11
18	48494487	G	C	18	50968117	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.994892447966171	0.924
18	48494487	G	T	18	50968117	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.990657576102868	0.846
18	48494488	A	C	18	50968118	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.995882181011666	0.852
18	48494488	A	G	18	50968118	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.997284200504318	0.812
18	48494488	A	T	18	50968118	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.997301686527332	0.89
18	48494489	G	A	18	50968119	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999925650496814	0.966
18	48494489	G	C	18	50968119	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999957789142813	0.964
18	48494489	G	T	18	50968119	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999907707934745	0.938
18	48494490	T	A	18	50968120	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.986395256289518	0.786
18	48494490	T	C	18	50968120	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.975719190520291	0.608
18	48494490	T	G	18	50968120	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.973626257417508	0.704
18	48494491	G	A	18	50968121	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	8.19764728375896E-4	0.0
18	48494491	G	C	18	50968121	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.86837902197376E-4	0.0
18	48494491	G	T	18	50968121	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	2.42111512678669E-4	0.0
18	48494492	C	A	18	50968122	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	6.21075615774793E-5	0.0
18	48494492	C	G	18	50968122	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	6.21075615774793E-5	0.0
18	48494492	C	T	18	50968122	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	9.32151892481367E-5	0.0
18	48500755	T	A	18	50974385	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0292226897864096	0.256
18	48500755	T	C	18	50974385	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	5.43066845818002E-4	0.166
18	48500755	T	G	18	50974385	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0112007358245542	0.252
18	48500756	T	A	18	50974386	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.266746345006294	0.518
18	48500756	T	C	18	50974386	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0350890413281807	0.138
18	48500756	T	G	18	50974386	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.101938842186438	0.362
18	48500757	T	A	18	50974387	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.299588312573638	0.366
18	48500757	T	C	18	50974387	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00341345569124411	0.112
18	48500757	T	G	18	50974387	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.247106594267959	0.328
18	48500758	C	A	18	50974388	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	6.80195965366425E-5	0.152
18	48500758	C	G	18	50974388	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.55311477625414E-5	0.076
18	48500758	C	T	18	50974388	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	6.83253477092936E-5	0.106
18	48500759	T	A	18	50974389	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.99988685300866	0.966
18	48500759	T	C	18	50974389	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.7968522621477E-5	0.042
18	48500759	T	G	18	50974389	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00395331270633896	0.198
18	48500760	G	A	18	50974390	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.49295471067254E-4	0.004
18	48500760	G	C	18	50974390	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	5.37305224571457E-5	0.004
18	48500760	G	T	18	50974390	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	6.06009703329824E-5	0.0
18	48500761	T	A	18	50974391	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.896426614004772	0.558
18	48500761	T	C	18	50974391	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.275294903700634	0.544
18	48500761	T	G	18	50974391	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.923598808760853	0.574
18	48500762	T	A	18	50974392	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999683655542799	0.928
18	48500762	T	C	18	50974392	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00427897304160257	0.06
18	48500762	T	G	18	50974392	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.355655784530178	0.446
18	48500763	G	A	18	50974393	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00632127859009413	0.046
18	48500763	G	C	18	50974393	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00339425877096261	0.034
18	48500763	G	T	18	50974393	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00425519567471106	0.052
18	48500764	C	A	18	50974394	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.998312136011674	0.88
18	48500764	C	G	18	50974394	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999886772152062	0.906
18	48500764	C	T	18	50974394	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.116610978332152	0.178
18	48500765	A	C	18	50974395	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999988247793601	0.928
18	48500765	A	G	18	50974395	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999988247793601	0.928
18	48500765	A	T	18	50974395	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999988247793601	0.93
18	48500766	G	A	18	50974396	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999985532734767	0.936
18	48500766	G	C	18	50974396	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999985532734767	0.936
18	48500766	G	T	18	50974396	y	y	splicing	ELAC1	.	.	splicing	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999985532734767	0.936
18	48500767	G	A	18	50974397	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.351523235695011	0.382
18	48500767	G	C	18	50974397	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.908125774513739	0.67
18	48500767	G	T	18	50974397	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.991646976007249	0.848
18	48500768	G	A	18	50974398	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.692153096500021	0.438
18	48500768	G	C	18	50974398	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0320217363796353	0.234
18	48500768	G	T	18	50974398	y	y	UTR5	ELAC1	.	.	UTR5	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.146202298515365	0.272
18	48500929	C	A	18	50974559	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon2:c.C155A:p.A52E;	exonic	ENSG00000141642;ENSG00000267699	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon2:c.C155A:p.A52E;ENSG00000141642:ENST00000591429:exon2:c.C155A:p.A52E;ENSG00000267699:ENST00000590722:exon2:c.C155A:p.A52E;ENSG00000141642:ENST00000588577:exon2:c.C155A:p.A52E;	0.946602776670852	0.85
18	48500929	C	G	18	50974559	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon2:c.C155G:p.A52G;	exonic	ENSG00000141642;ENSG00000267699	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon2:c.C155G:p.A52G;ENSG00000141642:ENST00000591429:exon2:c.C155G:p.A52G;ENSG00000267699:ENST00000590722:exon2:c.C155G:p.A52G;ENSG00000141642:ENST00000588577:exon2:c.C155G:p.A52G;	0.940883904785144	0.576
18	48500929	C	T	18	50974559	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon2:c.C155T:p.A52V;	exonic	ENSG00000141642;ENSG00000267699	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon2:c.C155T:p.A52V;ENSG00000141642:ENST00000591429:exon2:c.C155T:p.A52V;ENSG00000267699:ENST00000590722:exon2:c.C155T:p.A52V;ENSG00000141642:ENST00000588577:exon2:c.C155T:p.A52V;	0.998384330543333	0.846
18	48500930	A	C	18	50974560	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon2:c.A156C:p.A52A;	exonic	ENSG00000141642;ENSG00000267699	synonymous SNV	ENSG00000141642:ENST00000269466:exon2:c.A156C:p.A52A;ENSG00000141642:ENST00000591429:exon2:c.A156C:p.A52A;ENSG00000267699:ENST00000590722:exon2:c.A156C:p.A52A;ENSG00000141642:ENST00000588577:exon2:c.A156C:p.A52A;	0.995680000151572	0.878
18	48500930	A	G	18	50974560	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon2:c.A156G:p.A52A;	exonic	ENSG00000141642;ENSG00000267699	synonymous SNV	ENSG00000141642:ENST00000269466:exon2:c.A156G:p.A52A;ENSG00000141642:ENST00000591429:exon2:c.A156G:p.A52A;ENSG00000267699:ENST00000590722:exon2:c.A156G:p.A52A;ENSG00000141642:ENST00000588577:exon2:c.A156G:p.A52A;	0.999497045942349	0.986
18	48500930	A	T	18	50974560	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon2:c.A156T:p.A52A;	exonic	ENSG00000141642;ENSG00000267699	synonymous SNV	ENSG00000141642:ENST00000269466:exon2:c.A156T:p.A52A;ENSG00000141642:ENST00000591429:exon2:c.A156T:p.A52A;ENSG00000267699:ENST00000590722:exon2:c.A156T:p.A52A;ENSG00000141642:ENST00000588577:exon2:c.A156T:p.A52A;	0.99937912581659	0.966
18	48500931	G	A	18	50974561	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon2:c.G157A:p.G53R;	exonic	ENSG00000141642;ENSG00000267699	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon2:c.G157A:p.G53R;ENSG00000141642:ENST00000591429:exon2:c.G157A:p.G53R;ENSG00000267699:ENST00000590722:exon2:c.G157A:p.G53S;ENSG00000141642:ENST00000588577:exon2:c.G157A:p.E53K;	0.999986725333882	1.0
18	48500931	G	C	18	50974561	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon2:c.G157C:p.G53R;	exonic	ENSG00000141642;ENSG00000267699	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon2:c.G157C:p.G53R;ENSG00000141642:ENST00000591429:exon2:c.G157C:p.G53R;ENSG00000267699:ENST00000590722:exon2:c.G157C:p.G53R;ENSG00000141642:ENST00000588577:exon2:c.G157C:p.E53Q;	0.999998122414291	0.978
18	48500931	G	T	18	50974561	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon2:c.G157T:p.G53W;	exonic	ENSG00000141642;ENSG00000267699	stopgain SNV	ENSG00000141642:ENST00000588577:exon2:c.G157T:p.E53X;	0.999992510349212	1.0
18	48500932	G	A	18	50974562	y	y	splicing	ELAC1(NM_018696:exon2:c.157+1G>A)	.	.	splicing	ENSG00000141642(ENST00000588577:exon2:c.157+1G>A;ENST00000269466:exon2:c.157+1G>A;ENST00000591429:exon2:c.157+1G>A);ENSG00000141646;ENSG00000267699(ENST00000590722:exon2:c.157+1G>A)	.	.	0.999990361384395	0.938
18	48500932	G	C	18	50974562	y	y	splicing	ELAC1(NM_018696:exon2:c.157+1G>C)	.	.	splicing	ENSG00000141642(ENST00000588577:exon2:c.157+1G>C;ENST00000269466:exon2:c.157+1G>C;ENST00000591429:exon2:c.157+1G>C);ENSG00000141646;ENSG00000267699(ENST00000590722:exon2:c.157+1G>C)	.	.	0.999990361384395	0.938
18	48500932	G	T	18	50974562	y	y	splicing	ELAC1(NM_018696:exon2:c.157+1G>T)	.	.	splicing	ENSG00000141642(ENST00000588577:exon2:c.157+1G>T;ENST00000269466:exon2:c.157+1G>T;ENST00000591429:exon2:c.157+1G>T);ENSG00000141646;ENSG00000267699(ENST00000590722:exon2:c.157+1G>T)	.	.	0.999990361384395	0.938
18	48500933	T	A	18	50974563	y	y	splicing	ELAC1(NM_018696:exon2:c.157+2T>A)	.	.	splicing	ENSG00000141642(ENST00000588577:exon2:c.157+2T>A;ENST00000269466:exon2:c.157+2T>A;ENST00000591429:exon2:c.157+2T>A);ENSG00000141646;ENSG00000267699(ENST00000590722:exon2:c.157+2T>A)	.	.	0.999988247793601	0.93
18	48500933	T	C	18	50974563	y	y	splicing	ELAC1(NM_018696:exon2:c.157+2T>C)	.	.	splicing	ENSG00000141642(ENST00000588577:exon2:c.157+2T>C;ENST00000269466:exon2:c.157+2T>C;ENST00000591429:exon2:c.157+2T>C);ENSG00000141646;ENSG00000267699(ENST00000590722:exon2:c.157+2T>C)	.	.	0.995320650369382	0.718
18	48500933	T	G	18	50974563	y	y	splicing	ELAC1(NM_018696:exon2:c.157+2T>G)	.	.	splicing	ENSG00000141642(ENST00000588577:exon2:c.157+2T>G;ENST00000269466:exon2:c.157+2T>G;ENST00000591429:exon2:c.157+2T>G);ENSG00000141646;ENSG00000267699(ENST00000590722:exon2:c.157+2T>G)	.	.	0.999988247793601	0.93
18	48500934	T	A	18	50974564	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	4.09701137470708E-4	0.144
18	48500934	T	C	18	50974564	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.24675719437441E-5	0.024
18	48500934	T	G	18	50974564	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	2.82802107398497E-4	0.12
18	48500935	A	C	18	50974565	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.991361419805182	0.858
18	48500935	A	G	18	50974565	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.993174596066535	0.802
18	48500935	A	T	18	50974565	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.995131277144856	0.83
18	48500936	G	A	18	50974566	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999355420558454	0.948
18	48500936	G	C	18	50974566	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999854796915791	0.854
18	48500936	G	T	18	50974566	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999258988271153	0.896
18	48500937	T	A	18	50974567	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.909895843563243	0.83
18	48500937	T	C	18	50974567	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.991474821339062	0.854
18	48500937	T	G	18	50974567	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.784088377162211	0.654
18	48500938	G	A	18	50974568	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00127576394023136	0.008
18	48500938	G	C	18	50974568	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00127576394023136	0.006
18	48500938	G	T	18	50974568	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	4.33525188620737E-4	0.006
18	48500939	T	A	18	50974569	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00234928102474493	0.01
18	48500939	T	C	18	50974569	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0033321047372076	0.02
18	48500939	T	G	18	50974569	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	5.88568467278335E-4	0.018
18	48510454	C	A	18	50984084	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0122863853740607	0.11
18	48510454	C	G	18	50984084	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00193540019898869	0.088
18	48510454	C	T	18	50984084	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	8.02066961805461E-5	0.09
18	48510455	T	A	18	50984085	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.852834332134116	0.824
18	48510455	T	C	18	50984085	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.585035234876693	0.65
18	48510455	T	G	18	50984085	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.736514044270197	0.802
18	48510456	C	A	18	50984086	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0022156236541753	0.12
18	48510456	C	G	18	50984086	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00221024033518998	0.066
18	48510456	C	T	18	50984086	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	7.23572481425522E-5	0.062
18	48510457	A	C	18	50984087	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.23900548684356E-5	0.0
18	48510457	A	G	18	50984087	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.90889183469337E-5	0.048
18	48510457	A	T	18	50984087	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.80428593502115E-5	0.018
18	48510458	A	C	18	50984088	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.65671600554889E-4	0.012
18	48510458	A	G	18	50984088	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.99906444061025	0.932
18	48510458	A	T	18	50984088	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.65671600554889E-4	0.054
18	48510459	T	A	18	50984089	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.615419243590765	0.54
18	48510459	T	C	18	50984089	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.33490690542103E-4	0.014
18	48510459	T	G	18	50984089	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.999210911623783	0.972
18	48510460	C	A	18	50984090	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00228076333239417	0.348
18	48510460	C	G	18	50984090	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0103470521399749	0.408
18	48510460	C	T	18	50984090	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	7.80429242952137E-5	0.038
18	48510461	A	C	18	50984091	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.18681539435057E-5	0.022
18	48510461	A	G	18	50984091	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.55583443959868E-4	0.01
18	48510461	A	T	18	50984091	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	2.74678062984857E-5	0.046
18	48510462	A	C	18	50984092	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	4.56597362631666E-4	0.028
18	48510462	A	G	18	50984092	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.997728432797808	0.922
18	48510462	A	T	18	50984092	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	9.52322886372675E-4	0.058
18	48510463	A	C	18	50984093	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	2.71646014977733E-4	0.056
18	48510463	A	G	18	50984093	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.243330651063845	0.392
18	48510463	A	T	18	50984093	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00304147175406992	0.06
18	48510464	A	C	18	50984094	y	y	splicing	ELAC1(NM_018696:exon3:c.158-2A>C)	.	.	splicing	ENSG00000141642(ENST00000269466:exon3:c.158-2A>C;ENST00000591429:exon3:c.158-2A>C)	.	.	0.999914511980801	0.89
18	48510464	A	G	18	50984094	y	y	splicing	ELAC1(NM_018696:exon3:c.158-2A>G)	.	.	splicing	ENSG00000141642(ENST00000269466:exon3:c.158-2A>G;ENST00000591429:exon3:c.158-2A>G)	.	.	0.999914511980801	0.888
18	48510464	A	T	18	50984094	y	y	splicing	ELAC1(NM_018696:exon3:c.158-2A>T)	.	.	splicing	ENSG00000141642(ENST00000269466:exon3:c.158-2A>T;ENST00000591429:exon3:c.158-2A>T)	.	.	0.999914511980801	0.89
18	48510465	G	A	18	50984095	y	y	splicing	ELAC1(NM_018696:exon3:c.158-1G>A)	.	.	splicing	ENSG00000141642(ENST00000269466:exon3:c.158-1G>A;ENST00000591429:exon3:c.158-1G>A)	.	.	0.999980697831002	0.888
18	48510465	G	C	18	50984095	y	y	splicing	ELAC1(NM_018696:exon3:c.158-1G>C)	.	.	splicing	ENSG00000141642(ENST00000269466:exon3:c.158-1G>C;ENST00000591429:exon3:c.158-1G>C)	.	.	0.999980697831002	0.888
18	48510465	G	T	18	50984095	y	y	splicing	ELAC1(NM_018696:exon3:c.158-1G>T)	.	.	splicing	ENSG00000141642(ENST00000269466:exon3:c.158-1G>T;ENST00000591429:exon3:c.158-1G>T)	.	.	0.999980697831002	0.888
18	48510466	G	A	18	50984096	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.G158A:p.G53E;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G158A:p.G53E;ENSG00000141642:ENST00000591429:exon3:c.G158A:p.G53E;	0.999229864429208	0.84
18	48510466	G	C	18	50984096	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.G158C:p.G53A;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G158C:p.G53A;ENSG00000141642:ENST00000591429:exon3:c.G158C:p.G53A;	0.999802582936139	0.866
18	48510466	G	T	18	50984096	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.G158T:p.G53V;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G158T:p.G53V;ENSG00000141642:ENST00000591429:exon3:c.G158T:p.G53V;	0.999759915706101	0.908
18	48510467	G	A	18	50984097	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon3:c.G159A:p.G53G;	exonic	ENSG00000141642	synonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G159A:p.G53G;ENSG00000141642:ENST00000591429:exon3:c.G159A:p.G53G;	2.95486522907792E-4	0.028
18	48510467	G	C	18	50984097	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon3:c.G159C:p.G53G;	exonic	ENSG00000141642	synonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G159C:p.G53G;ENSG00000141642:ENST00000591429:exon3:c.G159C:p.G53G;	5.11087292333351E-4	0.03
18	48510467	G	T	18	50984097	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon3:c.G159T:p.G53G;	exonic	ENSG00000141642	synonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G159T:p.G53G;ENSG00000141642:ENST00000591429:exon3:c.G159T:p.G53G;	2.42188199609965E-4	0.052
18	48510931	T	A	18	50984561	y	n	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.T623A:p.L208H;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.T623A:p.L208H;ENSG00000141642:ENST00000591429:exon3:c.T623A:p.L208H;ENSG00000141642:ENST00000588577:exon3:c.T232A:p.L78M;	0.747922983765928	0.678
18	48510931	T	C	18	50984561	y	n	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.T623C:p.L208P;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.T623C:p.L208P;ENSG00000141642:ENST00000591429:exon3:c.T623C:p.L208P;	0.684752700964632	0.602
18	48510931	T	G	18	50984561	y	n	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.T623G:p.L208R;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.T623G:p.L208R;ENSG00000141642:ENST00000591429:exon3:c.T623G:p.L208R;ENSG00000141642:ENST00000588577:exon3:c.T232G:p.L78V;	0.788174754621847	0.634
18	48510932	T	A	18	50984562	y	n	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon3:c.T624A:p.L208L;	exonic	ENSG00000141642	stopgain SNV	ENSG00000141642:ENST00000588577:exon3:c.T233A:p.L78X;	2.33484649219647E-5	0.046
18	48510932	T	C	18	50984562	y	n	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon3:c.T624C:p.L208L;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000588577:exon3:c.T233C:p.L78S;	7.47744362397867E-6	0.0
18	48510932	T	G	18	50984562	y	n	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon3:c.T624G:p.L208L;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000588577:exon3:c.T233G:p.L78W;	2.68610096842842E-5	0.0
18	48510933	G	A	18	50984563	y	n	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.G625A:p.G209S;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G625A:p.G209S;ENSG00000141642:ENST00000591429:exon3:c.G625A:p.G209S;	0.999890080282309	0.928
18	48510933	G	C	18	50984563	y	n	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.G625C:p.G209R;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G625C:p.G209R;ENSG00000141642:ENST00000591429:exon3:c.G625C:p.G209R;ENSG00000141642:ENST00000588577:exon3:c.G234C:p.L78F;	0.999951604389054	0.898
18	48510933	G	T	18	50984563	y	n	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon3:c.G625T:p.G209C;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon3:c.G625T:p.G209C;ENSG00000141642:ENST00000591429:exon3:c.G625T:p.G209C;ENSG00000141642:ENST00000588577:exon3:c.G234T:p.L78F;	0.999922066578099	0.788
18	48510934	G	A	18	50984564	y	n	splicing	ELAC1(NM_018696:exon3:c.625+1G>A)	.	.	exonic;splicing	ENSG00000141642;ENSG00000141642(ENST00000588577:exon3:c.234+1G>A;ENST00000269466:exon3:c.625+1G>A)	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G626A:p.G209D;	0.999990361384395	0.936
18	48510934	G	C	18	50984564	y	n	splicing	ELAC1(NM_018696:exon3:c.625+1G>C)	.	.	exonic;splicing	ENSG00000141642;ENSG00000141642(ENST00000588577:exon3:c.234+1G>C;ENST00000269466:exon3:c.625+1G>C)	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G626C:p.G209A;	0.999990361384395	0.934
18	48510934	G	T	18	50984564	y	n	splicing	ELAC1(NM_018696:exon3:c.625+1G>T)	.	.	exonic;splicing	ENSG00000141642;ENSG00000141642(ENST00000588577:exon3:c.234+1G>T;ENST00000269466:exon3:c.625+1G>T)	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G626T:p.G209V;	0.999990361384395	0.936
18	48510935	T	A	18	50984565	y	n	splicing	ELAC1(NM_018696:exon3:c.625+2T>A)	.	.	exonic;splicing	ENSG00000141642;ENSG00000141642(ENST00000588577:exon3:c.234+2T>A;ENST00000269466:exon3:c.625+2T>A)	synonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.T627A:p.G209G;	0.999988247793601	0.93
18	48510935	T	C	18	50984565	y	n	splicing	ELAC1(NM_018696:exon3:c.625+2T>C)	.	.	exonic;splicing	ENSG00000141642;ENSG00000141642(ENST00000588577:exon3:c.234+2T>C;ENST00000269466:exon3:c.625+2T>C)	synonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.T627C:p.G209G;	0.98918007292081	0.682
18	48510935	T	G	18	50984565	y	n	splicing	ELAC1(NM_018696:exon3:c.625+2T>G)	.	.	exonic;splicing	ENSG00000141642;ENSG00000141642(ENST00000588577:exon3:c.234+2T>G;ENST00000269466:exon3:c.625+2T>G)	synonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.T627G:p.G209G;	0.999988247793601	0.93
18	48510936	A	C	18	50984566	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.A628C:p.K210Q;	0.705489884579814	0.43
18	48510936	A	G	18	50984566	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.A628G:p.K210E;	1.07929749727601E-4	0.004
18	48510936	A	T	18	50984566	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	stopgain SNV	ENSG00000141642:ENST00000591429:exon3:c.A628T:p.K210X;	0.340197195159757	0.384
18	48510937	A	C	18	50984567	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.A629C:p.K210T;	0.680352200731565	0.49
18	48510937	A	G	18	50984567	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.A629G:p.K210R;	0.791459921611811	0.58
18	48510937	A	T	18	50984567	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.A629T:p.K210M;	0.945336695708167	0.692
18	48510938	G	A	18	50984568	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	synonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G630A:p.K210K;	0.999095915694923	0.928
18	48510938	G	C	18	50984568	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G630C:p.K210N;	0.99950855928387	0.882
18	48510938	G	T	18	50984568	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G630T:p.K210N;	0.999895772153526	0.898
18	48510939	T	A	18	50984569	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.T631A:p.C211S;	0.00114031686215685	0.054
18	48510939	T	C	18	50984569	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.T631C:p.C211R;	0.00730254708761442	0.066
18	48510939	T	G	18	50984569	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.T631G:p.C211G;	2.57613249824016E-4	0.036
18	48510940	G	A	18	50984570	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G632A:p.C211Y;	1.08245891919028E-5	0.0
18	48510940	G	C	18	50984570	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G632C:p.C211S;	1.08245891919028E-5	0.0
18	48510940	G	T	18	50984570	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.G632T:p.C211F;	1.26894108897283E-5	0.0
18	48510941	T	A	18	50984571	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	stopgain SNV	ENSG00000141642:ENST00000591429:exon3:c.T633A:p.C211X;	1.67738868662274E-5	0.004
18	48510941	T	C	18	50984571	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	synonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.T633C:p.C211C;	8.12073509907113E-6	0.01
18	48510941	T	G	18	50984571	y	n	intronic	ELAC1	.	.	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000591429:exon3:c.T633G:p.C211W;	8.78605277324962E-6	0.002
18	48512977	C	A	18	50986607	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00814651093018665	0.102
18	48512977	C	G	18	50986607	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00337938933722661	0.096
18	48512977	C	T	18	50986607	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.10340459270554E-4	0.002
18	48512978	T	A	18	50986608	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.962628846194056	0.866
18	48512978	T	C	18	50986608	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.207683130606329	0.27
18	48512978	T	G	18	50986608	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.973313544452278	0.862
18	48512979	T	A	18	50986609	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0816140942809587	0.572
18	48512979	T	C	18	50986609	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00119835694112689	0.132
18	48512979	T	G	18	50986609	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.132138661946221	0.562
18	48512980	C	A	18	50986610	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.021405270860701	0.08
18	48512980	C	G	18	50986610	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0226211188122962	0.16
18	48512980	C	T	18	50986610	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	9.23713973995953E-5	0.004
18	48512981	A	C	18	50986611	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.60095286295305E-4	0.0
18	48512981	A	G	18	50986611	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	4.11822142944658E-4	0.014
18	48512981	A	T	18	50986611	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.65538695949904E-4	0.016
18	48512982	T	A	18	50986612	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.593133963033681	0.514
18	48512982	T	C	18	50986612	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00495528991354213	0.102
18	48512982	T	G	18	50986612	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.99992281023412	0.99
18	48512983	C	A	18	50986613	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.482689397980254	0.598
18	48512983	C	G	18	50986613	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.442314536033721	0.608
18	48512983	C	T	18	50986613	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.00153156778650791	0.054
18	48512984	A	C	18	50986614	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	3.33834476013104E-4	0.062
18	48512984	A	G	18	50986614	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	8.73827522216171E-4	0.106
18	48512984	A	T	18	50986614	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	2.28318511059132E-4	0.018
18	48512985	T	A	18	50986615	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	1.93244708792852E-4	0.006
18	48512985	T	C	18	50986615	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	2.07829698472754E-4	0.174
18	48512985	T	G	18	50986615	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.928886273609675	0.572
18	48512986	T	A	18	50986616	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.0265743198967074	0.388
18	48512986	T	C	18	50986616	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	5.38355276974052E-5	0.01
18	48512986	T	G	18	50986616	y	y	intronic	ELAC1	.	.	intronic	ENSG00000141642;ENSG00000141646;ENSG00000267699	.	.	0.998511571025902	0.77
18	48512987	A	C	18	50986617	y	y	splicing	ELAC1(NM_018696:exon4:c.626-2A>C)	.	.	splicing	ENSG00000141642(ENST00000588577:exon4:c.235-2A>C;ENST00000269466:exon4:c.626-2A>C)	.	.	0.999989917668626	0.952
18	48512987	A	G	18	50986617	y	y	splicing	ELAC1(NM_018696:exon4:c.626-2A>G)	.	.	splicing	ENSG00000141642(ENST00000588577:exon4:c.235-2A>G;ENST00000269466:exon4:c.626-2A>G)	.	.	0.999989917668626	0.952
18	48512987	A	T	18	50986617	y	y	splicing	ELAC1(NM_018696:exon4:c.626-2A>T)	.	.	splicing	ENSG00000141642(ENST00000588577:exon4:c.235-2A>T;ENST00000269466:exon4:c.626-2A>T)	.	.	0.999989917668626	0.952
18	48512988	G	A	18	50986618	y	y	splicing	ELAC1(NM_018696:exon4:c.626-1G>A)	.	.	splicing	ENSG00000141642(ENST00000588577:exon4:c.235-1G>A;ENST00000269466:exon4:c.626-1G>A)	.	.	0.999989483462543	0.958
18	48512988	G	C	18	50986618	y	y	splicing	ELAC1(NM_018696:exon4:c.626-1G>C)	.	.	splicing	ENSG00000141642(ENST00000588577:exon4:c.235-1G>C;ENST00000269466:exon4:c.626-1G>C)	.	.	0.999989483462543	0.958
18	48512988	G	T	18	50986618	y	y	splicing	ELAC1(NM_018696:exon4:c.626-1G>T)	.	.	splicing	ENSG00000141642(ENST00000588577:exon4:c.235-1G>T;ENST00000269466:exon4:c.626-1G>T)	.	.	0.999989483462543	0.958
18	48512989	G	A	18	50986619	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon4:c.G626A:p.G209D;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon4:c.G626A:p.G209D;ENSG00000141642:ENST00000588577:exon4:c.G235A:p.V79M;	0.999839798794492	0.966
18	48512989	G	C	18	50986619	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon4:c.G626C:p.G209A;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon4:c.G626C:p.G209A;ENSG00000141642:ENST00000588577:exon4:c.G235C:p.V79L;	0.999896522894252	0.976
18	48512989	G	T	18	50986619	y	y	exonic	ELAC1	nonsynonymous SNV	ELAC1:NM_018696:exon4:c.G626T:p.G209V;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000269466:exon4:c.G626T:p.G209V;ENSG00000141642:ENST00000588577:exon4:c.G235T:p.V79L;	0.999942345002822	0.994
18	48512990	T	A	18	50986620	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon4:c.T627A:p.G209G;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000588577:exon4:c.T236A:p.V79E;	0.0314896538215684	0.182
18	48512990	T	C	18	50986620	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon4:c.T627C:p.G209G;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000588577:exon4:c.T236C:p.V79A;	0.0249600154161707	0.166
18	48512990	T	G	18	50986620	y	y	exonic	ELAC1	synonymous SNV	ELAC1:NM_018696:exon4:c.T627G:p.G209G;	exonic	ENSG00000141642	nonsynonymous SNV	ENSG00000141642:ENST00000588577:exon4:c.T236G:p.V79G;	0.0712389140990603	0.14
18	48555033	T	A	18	51028663	n	y	intergenic	ELAC1(dist=40543);SMAD4(dist=1550)	.	.	UTR5	ENSG00000141646	.	.	7.19896566466075E-5	.
18	48555033	T	C	18	51028663	n	y	intergenic	ELAC1(dist=40543);SMAD4(dist=1550)	.	.	UTR5	ENSG00000141646	.	.	6.40390410223948E-5	.
18	48555033	T	G	18	51028663	n	y	intergenic	ELAC1(dist=40543);SMAD4(dist=1550)	.	.	UTR5	ENSG00000141646	.	.	6.40390410223948E-5	.
18	48555034	C	A	18	51028664	n	y	intergenic	ELAC1(dist=40544);SMAD4(dist=1549)	.	.	UTR5	ENSG00000141646	.	.	3.43555468515903E-4	.
18	48555034	C	G	18	51028664	n	y	intergenic	ELAC1(dist=40544);SMAD4(dist=1549)	.	.	UTR5	ENSG00000141646	.	.	3.01530404882206E-4	.
18	48555034	C	T	18	51028664	n	y	intergenic	ELAC1(dist=40544);SMAD4(dist=1549)	.	.	UTR5	ENSG00000141646	.	.	4.3199280465911E-4	.
18	48555035	T	A	18	51028665	n	y	intergenic	ELAC1(dist=40545);SMAD4(dist=1548)	.	.	UTR5	ENSG00000141646	.	.	1.14095024239802E-4	.
18	48555035	T	C	18	51028665	n	y	intergenic	ELAC1(dist=40545);SMAD4(dist=1548)	.	.	UTR5	ENSG00000141646	.	.	1.14095024239802E-4	.
18	48555035	T	G	18	51028665	n	y	intergenic	ELAC1(dist=40545);SMAD4(dist=1548)	.	.	UTR5	ENSG00000141646	.	.	1.14095024239802E-4	.
18	48555036	G	A	18	51028666	n	y	intergenic	ELAC1(dist=40546);SMAD4(dist=1547)	.	.	splicing	ENSG00000141646	.	.	5.31541650996614E-4	.
18	48555036	G	C	18	51028666	n	y	intergenic	ELAC1(dist=40546);SMAD4(dist=1547)	.	.	splicing	ENSG00000141646	.	.	4.98349248283906E-4	.
18	48555036	G	T	18	51028666	n	y	intergenic	ELAC1(dist=40546);SMAD4(dist=1547)	.	.	splicing	ENSG00000141646	.	.	6.2660830131002E-4	.
18	48555037	T	A	18	51028667	n	y	intergenic	ELAC1(dist=40547);SMAD4(dist=1546)	.	.	splicing	ENSG00000141646	.	.	2.10937717814896E-4	.
18	48555037	T	C	18	51028667	n	y	intergenic	ELAC1(dist=40547);SMAD4(dist=1546)	.	.	splicing	ENSG00000141646	.	.	4.67640128098968E-5	.
18	48555037	T	G	18	51028667	n	y	intergenic	ELAC1(dist=40547);SMAD4(dist=1546)	.	.	splicing	ENSG00000141646	.	.	4.67640128098968E-5	.
18	48555038	A	C	18	51028668	n	y	intergenic	ELAC1(dist=40548);SMAD4(dist=1545)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.33393143473334E-5	.
18	48555038	A	G	18	51028668	n	y	intergenic	ELAC1(dist=40548);SMAD4(dist=1545)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.33393143473334E-5	.
18	48555038	A	T	18	51028668	n	y	intergenic	ELAC1(dist=40548);SMAD4(dist=1545)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.67640128098968E-5	.
18	48555039	A	C	18	51028669	n	y	intergenic	ELAC1(dist=40549);SMAD4(dist=1544)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.66853086252453E-5	.
18	48555039	A	G	18	51028669	n	y	intergenic	ELAC1(dist=40549);SMAD4(dist=1544)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.66853086252453E-5	.
18	48555039	A	T	18	51028669	n	y	intergenic	ELAC1(dist=40549);SMAD4(dist=1544)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.08089218616796E-4	.
18	48555040	G	A	18	51028670	n	y	intergenic	ELAC1(dist=40550);SMAD4(dist=1543)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.40390410223948E-5	.
18	48555040	G	C	18	51028670	n	y	intergenic	ELAC1(dist=40550);SMAD4(dist=1543)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.40390410223948E-5	.
18	48555040	G	T	18	51028670	n	y	intergenic	ELAC1(dist=40550);SMAD4(dist=1543)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.40390410223948E-5	.
18	48555041	A	C	18	51028671	n	y	intergenic	ELAC1(dist=40551);SMAD4(dist=1542)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.45561039218121E-5	.
18	48555041	A	G	18	51028671	n	y	intergenic	ELAC1(dist=40551);SMAD4(dist=1542)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.45561039218121E-5	.
18	48555041	A	T	18	51028671	n	y	intergenic	ELAC1(dist=40551);SMAD4(dist=1542)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.33763951434544E-5	.
18	48555042	T	A	18	51028672	n	y	intergenic	ELAC1(dist=40552);SMAD4(dist=1541)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.30802571901944E-5	.
18	48555042	T	C	18	51028672	n	y	intergenic	ELAC1(dist=40552);SMAD4(dist=1541)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.30802571901944E-5	.
18	48555042	T	G	18	51028672	n	y	intergenic	ELAC1(dist=40552);SMAD4(dist=1541)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.30802571901944E-5	.
18	48555043	C	A	18	51028673	n	y	intergenic	ELAC1(dist=40553);SMAD4(dist=1540)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.43135756436201E-5	.
18	48555043	C	G	18	51028673	n	y	intergenic	ELAC1(dist=40553);SMAD4(dist=1540)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.43135756436201E-5	.
18	48555043	C	T	18	51028673	n	y	intergenic	ELAC1(dist=40553);SMAD4(dist=1540)	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.43135756436201E-5	.
18	48556112	A	C	18	51029742	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	8.84938588598977E-4	.
18	48556112	A	G	18	51029742	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	8.84938588598977E-4	.
18	48556112	A	T	18	51029742	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	6.05339136142663E-4	.
18	48556113	A	C	18	51029743	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	8.84938588598977E-4	.
18	48556113	A	G	18	51029743	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	8.84938588598977E-4	.
18	48556113	A	T	18	51029743	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	6.05339136142663E-4	.
18	48556114	G	A	18	51029744	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	4.86939789833854E-4	.
18	48556114	G	C	18	51029744	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	3.64650365188719E-4	.
18	48556114	G	T	18	51029744	n	y	upstream	SMAD4	.	.	UTR5	ENSG00000141646	.	.	4.86939789833854E-4	.
18	48556115	G	A	18	51029745	n	y	upstream	SMAD4	.	.	splicing	ENSG00000141646	.	.	1.23904835232376E-4	.
18	48556115	G	C	18	51029745	n	y	upstream	SMAD4	.	.	splicing	ENSG00000141646	.	.	1.23904835232376E-4	.
18	48556115	G	T	18	51029745	n	y	upstream	SMAD4	.	.	splicing	ENSG00000141646	.	.	1.23904835232376E-4	.
18	48556116	T	A	18	51029746	n	y	upstream	SMAD4	.	.	splicing	ENSG00000141646	.	.	5.30584266825191E-4	.
18	48556116	T	C	18	51029746	n	y	upstream	SMAD4	.	.	splicing	ENSG00000141646	.	.	4.68283959688319E-4	.
18	48556116	T	G	18	51029746	n	y	upstream	SMAD4	.	.	splicing	ENSG00000141646	.	.	4.68283959688319E-4	.
18	48556117	G	A	18	51029747	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.26242349808965E-4	.
18	48556117	G	C	18	51029747	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.51321658324057E-4	.
18	48556117	G	T	18	51029747	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.10304202489065E-4	.
18	48556118	C	A	18	51029748	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.10304202489065E-4	.
18	48556118	C	G	18	51029748	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.51321658324057E-4	.
18	48556118	C	T	18	51029748	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.26242349808965E-4	.
18	48556119	C	A	18	51029749	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.72335930929634E-4	.
18	48556119	C	G	18	51029749	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.72335930929634E-4	.
18	48556119	C	T	18	51029749	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.72335930929634E-4	.
18	48556120	G	A	18	51029750	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.58516571422305E-4	.
18	48556120	G	C	18	51029750	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.31711299058639E-4	.
18	48556120	G	T	18	51029750	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.58516571422305E-4	.
18	48556121	C	A	18	51029751	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.1213576116827E-5	.
18	48556121	C	G	18	51029751	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.1213576116827E-5	.
18	48556121	C	T	18	51029751	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.58579704677948E-4	.
18	48556122	C	A	18	51029752	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.78504747496236E-4	.
18	48556122	C	G	18	51029752	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.9656412056916E-4	.
18	48556122	C	T	18	51029752	n	y	upstream	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.41710698725735E-4	.
18	48556644	G	A	18	51030274	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0326121416490248	.
18	48556644	G	C	18	51030274	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0179443355201323	.
18	48556644	G	T	18	51030274	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0179443355201323	.
18	48556645	C	A	18	51030275	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0179443355201323	.
18	48556645	C	G	18	51030275	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0179443355201323	.
18	48556645	C	T	18	51030275	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0326121416490248	.
18	48556646	G	A	18	51030276	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	2.1300581643537E-4	.
18	48556646	G	C	18	51030276	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	5.10831231390349E-4	.
18	48556646	G	T	18	51030276	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	5.10831231390349E-4	.
18	48556647	G	A	18	51030277	n	y	UTR5	SMAD4	.	.	splicing	ENSG00000141646	.	.	5.12559995872229E-4	.
18	48556647	G	C	18	51030277	n	y	UTR5	SMAD4	.	.	splicing	ENSG00000141646	.	.	5.12559995872229E-4	.
18	48556647	G	T	18	51030277	n	y	UTR5	SMAD4	.	.	splicing	ENSG00000141646	.	.	5.12559995872229E-4	.
18	48556648	T	A	18	51030278	n	y	UTR5	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.182131262193826	.
18	48556648	T	C	18	51030278	n	y	UTR5	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.0884325644993335	.
18	48556648	T	G	18	51030278	n	y	UTR5	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.0884325644993335	.
18	48556649	A	C	18	51030279	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0884325644993335	.
18	48556649	A	G	18	51030279	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0884325644993335	.
18	48556649	A	T	18	51030279	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.163796033586279	.
18	48556650	A	C	18	51030280	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0884325644993335	.
18	48556650	A	G	18	51030280	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.0884325644993335	.
18	48556650	A	T	18	51030280	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.163796033586279	.
18	48556651	C	A	18	51030281	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	5.0867861572459E-4	.
18	48556651	C	G	18	51030281	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	5.12559995872229E-4	.
18	48556651	C	T	18	51030281	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.00104812065075727	.
18	48556652	G	A	18	51030282	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	2.07014392165218E-4	.
18	48556652	G	C	18	51030282	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	2.56455287586254E-4	.
18	48556652	G	T	18	51030282	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	2.56455287586254E-4	.
18	48556653	G	A	18	51030283	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.00104812065075727	.
18	48556653	G	C	18	51030283	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	5.12559995872229E-4	.
18	48556653	G	T	18	51030283	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	5.0867861572459E-4	.
18	48556654	A	C	18	51030284	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.00609218671517192	.
18	48556654	A	G	18	51030284	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.00609218671517192	.
18	48556654	A	T	18	51030284	n	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.00214328394454461	.
18	48556991	C	A	18	51030621	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	9.29754861303025E-4	0.044
18	48556991	C	G	18	51030621	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.00131683062377563	0.03
18	48556991	C	T	18	51030621	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.252846280545435	0.55
18	48556992	A	C	18	51030622	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.997614238690299	0.934
18	48556992	A	G	18	51030622	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.999040985777508	0.924
18	48556992	A	T	18	51030622	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.999153877472541	0.966
18	48556993	G	A	18	51030623	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.999973012931227	1.0
18	48556993	G	C	18	51030623	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.999987832949203	0.996
18	48556993	G	T	18	51030623	y	y	UTR5	SMAD4	.	.	UTR5	ENSG00000141646	.	.	0.999614568687671	0.994
18	48556994	G	A	18	51030624	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.999949366401994	0.904
18	48556994	G	C	18	51030624	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.999949366401994	0.906
18	48556994	G	T	18	51030624	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.999949366401994	0.906
18	48556995	T	A	18	51030625	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.999949366401994	0.9
18	48556995	T	C	18	51030625	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.535344637299558	0.588
18	48556995	T	G	18	51030625	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646	.	.	0.999949366401994	0.902
18	48556996	A	C	18	51030626	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999943123857448	0.954
18	48556996	A	G	18	51030626	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.983330094498174	0.87
18	48556996	A	T	18	51030626	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999962831118235	0.954
18	48556997	A	C	18	51030627	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.366020909428389	0.332
18	48556997	A	G	18	51030627	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.782963879916841	0.302
18	48556997	A	T	18	51030627	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.787535592002538	0.44
18	48556998	C	A	18	51030628	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00620253971183607	0.078
18	48556998	C	G	18	51030628	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00320331924358815	0.094
18	48556998	C	T	18	51030628	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00975883563679218	0.07
18	48556999	C	A	18	51030629	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.017508114418637	0.078
18	48556999	C	G	18	51030629	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00829639639853505	0.058
18	48556999	C	T	18	51030629	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00170248455495771	0.02
18	48557000	G	A	18	51030630	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0786149231798047	0.288
18	48557000	G	C	18	51030630	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0244643465768577	0.108
18	48557000	G	T	18	51030630	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0166405405653627	0.118
18	48557001	C	A	18	51030631	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0174586842119427	0.114
18	48557001	C	G	18	51030631	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0105571417442577	0.066
18	48557001	C	T	18	51030631	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.026832190179739	0.216
18	48571419	C	A	18	51045049	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	1.53118652275682E-4	0.1
18	48571419	C	G	18	51045049	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	2.04745871749893E-4	0.346
18	48571419	C	T	18	51045049	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	1.53118652275682E-4	0.098
18	48571420	A	C	18	51045050	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	6.78684081159298E-5	0.002
18	48571420	A	G	18	51045050	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	6.78684081159298E-5	0.002
18	48571420	A	T	18	51045050	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	6.78684081159298E-5	0.002
18	48571421	G	A	18	51045051	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	3.31929338280547E-5	0.0
18	48571421	G	C	18	51045051	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	3.07620641825897E-5	0.0
18	48571421	G	T	18	51045051	n	y	intronic	SMAD4	.	.	UTR5	ENSG00000141646	.	.	3.07620641825897E-5	0.0
18	48571422	G	A	18	51045052	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646	.	.	4.09469023002838E-4	0.014
18	48571422	G	C	18	51045052	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646	.	.	7.34280463342776E-4	0.012
18	48571422	G	T	18	51045052	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646	.	.	7.34280463342776E-4	0.014
18	48571423	T	A	18	51045053	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646	.	.	6.17112518686628E-5	0.002
18	48571423	T	C	18	51045053	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646	.	.	7.44782069694124E-5	0.002
18	48571423	T	G	18	51045053	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646	.	.	7.44782069694124E-5	0.002
18	48571424	G	A	18	51045054	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.57076726553018E-5	0.0
18	48571424	G	C	18	51045054	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.57076726553018E-5	0.004
18	48571424	G	T	18	51045054	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.57076726553018E-5	0.0
18	48571425	A	C	18	51045055	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.44782069694124E-5	0.008
18	48571425	A	G	18	51045055	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.44782069694124E-5	0.006
18	48571425	A	T	18	51045055	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.39529611572298E-5	0.004
18	48571426	T	A	18	51045056	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.15941453541388E-5	0.004
18	48571426	T	C	18	51045056	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.89925739660516E-5	0.028
18	48571426	T	G	18	51045056	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.89925739660516E-5	0.02
18	48571427	T	A	18	51045057	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.30614388075645E-4	0.004
18	48571427	T	C	18	51045057	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.23892897236096E-4	0.006
18	48571427	T	G	18	51045057	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.23892897236096E-4	0.006
18	48571428	G	A	18	51045058	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.3525528897954E-5	0.004
18	48571428	G	C	18	51045058	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.3525528897954E-5	0.002
18	48571428	G	T	18	51045058	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.3525528897954E-5	0.002
18	48571429	A	C	18	51045059	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.54291542054858E-4	0.004
18	48571429	A	G	18	51045059	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.54291542054858E-4	0.004
18	48571429	A	T	18	51045059	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.54291542054858E-4	0.002
18	48573278	T	A	18	51046908	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.33071245041177E-5	0.1
18	48573278	T	C	18	51046908	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.07351243900485E-5	0.014
18	48573278	T	G	18	51046908	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.28566485572683E-4	0.13
18	48573279	T	A	18	51046909	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.90858995820812E-4	0.07
18	48573279	T	C	18	51046909	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.07704827841854E-5	0.004
18	48573279	T	G	18	51046909	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.19718506625126E-4	0.078
18	48573280	T	A	18	51046910	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.14489697170748E-4	0.098
18	48573280	T	C	18	51046910	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.47814833638631E-4	0.014
18	48573280	T	G	18	51046910	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.88143077085931E-4	0.088
18	48573281	C	A	18	51046911	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.40578470434731E-4	0.018
18	48573281	C	G	18	51046911	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.6425413817957E-5	0.028
18	48573281	C	T	18	51046911	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.14200685451687E-5	0.096
18	48573282	T	A	18	51046912	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.70607850275358E-4	0.072
18	48573282	T	C	18	51046912	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.7132961419236E-4	0.008
18	48573282	T	G	18	51046912	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.65105987035878E-4	0.046
18	48573283	T	A	18	51046913	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.09359532989458E-5	0.002
18	48573283	T	C	18	51046913	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.67414811209294E-5	0.014
18	48573283	T	G	18	51046913	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.27333989493383E-5	0.008
18	48573284	T	A	18	51046914	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.18149576636261E-4	0.09
18	48573284	T	C	18	51046914	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.59662195247417E-5	0.082
18	48573284	T	G	18	51046914	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.18149576636261E-4	0.122
18	48573285	T	A	18	51046915	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.30454215367555E-4	0.124
18	48573285	T	C	18	51046915	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.41138760803486E-5	0.006
18	48573285	T	G	18	51046915	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.00388550056166E-4	0.134
18	48573286	T	A	18	51046916	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.37338005079446E-5	0.002
18	48573286	T	C	18	51046916	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.4847717633298E-5	0.004
18	48573286	T	G	18	51046916	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.7877333857639E-5	0.016
18	48573287	T	A	18	51046917	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.17903036306076E-4	0.028
18	48573287	T	C	18	51046917	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.48691773824521E-5	0.002
18	48573287	T	G	18	51046917	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0935130957156843	0.352
18	48573288	A	C	18	51046918	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646;ENSG00000267699(ENST00000590722:exon3:c.158-2A>C)	.	.	0.999903621866699	0.878
18	48573288	A	G	18	51046918	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646;ENSG00000267699(ENST00000590722:exon3:c.158-2A>G)	.	.	0.999903621866699	0.878
18	48573288	A	T	18	51046918	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646;ENSG00000267699(ENST00000590722:exon3:c.158-2A>T)	.	.	0.999938221968836	0.892
18	48573289	G	A	18	51046919	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646;ENSG00000267699(ENST00000590722:exon3:c.158-1G>A)	.	.	0.999952061764578	0.854
18	48573289	G	C	18	51046919	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646;ENSG00000267699(ENST00000590722:exon3:c.158-1G>C)	.	.	0.999952061764578	0.812
18	48573289	G	T	18	51046919	y	y	splicing	SMAD4	.	.	splicing	ENSG00000141646;ENSG00000267699(ENST00000590722:exon3:c.158-1G>T)	.	.	0.999952061764578	0.836
18	48573290	G	A	18	51046920	y	y	UTR5	SMAD4	.	.	exonic	ENSG00000267699	nonsynonymous SNV	ENSG00000267699:ENST00000590722:exon3:c.G158A:p.G53D;	8.55630026710748E-4	0.17
18	48573290	G	C	18	51046920	y	y	UTR5	SMAD4	.	.	exonic	ENSG00000267699	nonsynonymous SNV	ENSG00000267699:ENST00000590722:exon3:c.G158C:p.G53A;	0.00199048005666	0.212
18	48573290	G	T	18	51046920	y	y	UTR5	SMAD4	.	.	exonic	ENSG00000267699	nonsynonymous SNV	ENSG00000267699:ENST00000590722:exon3:c.G158T:p.G53V;	0.0439693147847235	0.366
18	48573291	T	A	18	51046921	y	y	UTR5	SMAD4	.	.	exonic	ENSG00000267699	synonymous SNV	ENSG00000267699:ENST00000590722:exon3:c.T159A:p.G53G;	0.0800440432935447	0.246
18	48573291	T	C	18	51046921	y	y	UTR5	SMAD4	.	.	exonic	ENSG00000267699	synonymous SNV	ENSG00000267699:ENST00000590722:exon3:c.T159C:p.G53G;	0.0234706084049085	0.206
18	48573291	T	G	18	51046921	y	y	UTR5	SMAD4	.	.	exonic	ENSG00000267699	synonymous SNV	ENSG00000267699:ENST00000590722:exon3:c.T159G:p.G53G;	0.0095089920757134	0.138
18	48573663	C	A	18	51047293	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon2:c.C247A:p.Q83K;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon2:c.C247A:p.Q83K;ENSG00000141646:ENST00000342988:exon2:c.C247A:p.Q83K;ENSG00000141646:ENST00000591914:exon2:c.C247A:p.Q83K;ENSG00000141646:ENST00000452201:exon3:c.C247A:p.Q83K;ENSG00000141646:ENST00000398417:exon2:c.C247A:p.Q83K;ENSG00000141646:ENST00000590061:exon2:c.C247A:p.Q83K;ENSG00000141646:ENST00000588860:exon2:c.C247A:p.Q83K;ENSG00000141646:ENST00000588745:exon1:c.C247A:p.Q83K;ENSG00000141646:ENST00000589941:exon2:c.C247A:p.Q83K;ENSG00000141646:ENST00000592186:exon1:c.C247A:p.Q83K;	0.941365908528524	0.804
18	48573663	C	G	18	51047293	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon2:c.C247G:p.Q83E;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon2:c.C247G:p.Q83E;ENSG00000141646:ENST00000342988:exon2:c.C247G:p.Q83E;ENSG00000141646:ENST00000591914:exon2:c.C247G:p.Q83E;ENSG00000141646:ENST00000452201:exon3:c.C247G:p.Q83E;ENSG00000141646:ENST00000398417:exon2:c.C247G:p.Q83E;ENSG00000141646:ENST00000590061:exon2:c.C247G:p.Q83E;ENSG00000141646:ENST00000588860:exon2:c.C247G:p.Q83E;ENSG00000141646:ENST00000588745:exon1:c.C247G:p.Q83E;ENSG00000141646:ENST00000589941:exon2:c.C247G:p.Q83E;ENSG00000141646:ENST00000592186:exon1:c.C247G:p.Q83E;	0.860965231660572	0.642
18	48573663	C	T	18	51047293	y	y	exonic	SMAD4	stopgain SNV	SMAD4:NM_005359:exon2:c.C247T:p.Q83X;	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000589076:exon2:c.C247T:p.Q83X;ENSG00000141646:ENST00000342988:exon2:c.C247T:p.Q83X;ENSG00000141646:ENST00000591914:exon2:c.C247T:p.Q83X;ENSG00000141646:ENST00000452201:exon3:c.C247T:p.Q83X;ENSG00000141646:ENST00000398417:exon2:c.C247T:p.Q83X;ENSG00000141646:ENST00000590061:exon2:c.C247T:p.Q83X;ENSG00000141646:ENST00000588860:exon2:c.C247T:p.Q83X;ENSG00000141646:ENST00000588745:exon1:c.C247T:p.Q83X;ENSG00000141646:ENST00000589941:exon2:c.C247T:p.Q83X;ENSG00000141646:ENST00000592186:exon1:c.C247T:p.Q83X;	0.995255636697274	0.842
18	48573664	A	C	18	51047294	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon2:c.A248C:p.Q83P;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon2:c.A248C:p.Q83P;ENSG00000141646:ENST00000342988:exon2:c.A248C:p.Q83P;ENSG00000141646:ENST00000591914:exon2:c.A248C:p.Q83P;ENSG00000141646:ENST00000452201:exon3:c.A248C:p.Q83P;ENSG00000141646:ENST00000398417:exon2:c.A248C:p.Q83P;ENSG00000141646:ENST00000590061:exon2:c.A248C:p.Q83P;ENSG00000141646:ENST00000588860:exon2:c.A248C:p.Q83P;ENSG00000141646:ENST00000588745:exon1:c.A248C:p.Q83P;ENSG00000141646:ENST00000589941:exon2:c.A248C:p.Q83P;ENSG00000141646:ENST00000592186:exon1:c.A248C:p.Q83P;	0.998319908005765	0.976
18	48573664	A	G	18	51047294	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon2:c.A248G:p.Q83R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon2:c.A248G:p.Q83R;ENSG00000141646:ENST00000342988:exon2:c.A248G:p.Q83R;ENSG00000141646:ENST00000591914:exon2:c.A248G:p.Q83R;ENSG00000141646:ENST00000452201:exon3:c.A248G:p.Q83R;ENSG00000141646:ENST00000398417:exon2:c.A248G:p.Q83R;ENSG00000141646:ENST00000590061:exon2:c.A248G:p.Q83R;ENSG00000141646:ENST00000588860:exon2:c.A248G:p.Q83R;ENSG00000141646:ENST00000588745:exon1:c.A248G:p.Q83R;ENSG00000141646:ENST00000589941:exon2:c.A248G:p.Q83R;ENSG00000141646:ENST00000592186:exon1:c.A248G:p.Q83R;	0.999820618522361	0.99
18	48573664	A	T	18	51047294	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon2:c.A248T:p.Q83L;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon2:c.A248T:p.Q83L;ENSG00000141646:ENST00000342988:exon2:c.A248T:p.Q83L;ENSG00000141646:ENST00000591914:exon2:c.A248T:p.Q83L;ENSG00000141646:ENST00000452201:exon3:c.A248T:p.Q83L;ENSG00000141646:ENST00000398417:exon2:c.A248T:p.Q83L;ENSG00000141646:ENST00000590061:exon2:c.A248T:p.Q83L;ENSG00000141646:ENST00000588860:exon2:c.A248T:p.Q83L;ENSG00000141646:ENST00000588745:exon1:c.A248T:p.Q83L;ENSG00000141646:ENST00000589941:exon2:c.A248T:p.Q83L;ENSG00000141646:ENST00000592186:exon1:c.A248T:p.Q83L;	0.999441806959222	0.988
18	48573665	G	A	18	51047295	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon2:c.G249A:p.Q83Q;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000589076:exon2:c.G249A:p.Q83Q;ENSG00000141646:ENST00000342988:exon2:c.G249A:p.Q83Q;ENSG00000141646:ENST00000591914:exon2:c.G249A:p.Q83Q;ENSG00000141646:ENST00000452201:exon3:c.G249A:p.Q83Q;ENSG00000141646:ENST00000398417:exon2:c.G249A:p.Q83Q;ENSG00000141646:ENST00000590061:exon2:c.G249A:p.Q83Q;ENSG00000141646:ENST00000588860:exon2:c.G249A:p.Q83Q;ENSG00000141646:ENST00000588745:exon1:c.G249A:p.Q83Q;ENSG00000141646:ENST00000589941:exon2:c.G249A:p.Q83Q;ENSG00000141646:ENST00000592186:exon1:c.G249A:p.Q83Q;	0.998750568286158	0.998
18	48573665	G	C	18	51047295	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon2:c.G249C:p.Q83H;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon2:c.G249C:p.Q83H;ENSG00000141646:ENST00000342988:exon2:c.G249C:p.Q83H;ENSG00000141646:ENST00000591914:exon2:c.G249C:p.Q83H;ENSG00000141646:ENST00000452201:exon3:c.G249C:p.Q83H;ENSG00000141646:ENST00000398417:exon2:c.G249C:p.Q83H;ENSG00000141646:ENST00000590061:exon2:c.G249C:p.Q83H;ENSG00000141646:ENST00000588860:exon2:c.G249C:p.Q83H;ENSG00000141646:ENST00000588745:exon1:c.G249C:p.Q83H;ENSG00000141646:ENST00000589941:exon2:c.G249C:p.Q83H;ENSG00000141646:ENST00000592186:exon1:c.G249C:p.Q83H;	0.999996212825511	0.998
18	48573665	G	T	18	51047295	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon2:c.G249T:p.Q83H;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon2:c.G249T:p.Q83H;ENSG00000141646:ENST00000342988:exon2:c.G249T:p.Q83H;ENSG00000141646:ENST00000591914:exon2:c.G249T:p.Q83H;ENSG00000141646:ENST00000452201:exon3:c.G249T:p.Q83H;ENSG00000141646:ENST00000398417:exon2:c.G249T:p.Q83H;ENSG00000141646:ENST00000590061:exon2:c.G249T:p.Q83H;ENSG00000141646:ENST00000588860:exon2:c.G249T:p.Q83H;ENSG00000141646:ENST00000588745:exon1:c.G249T:p.Q83H;ENSG00000141646:ENST00000589941:exon2:c.G249T:p.Q83H;ENSG00000141646:ENST00000592186:exon1:c.G249T:p.Q83H;	0.999985900744926	0.984
18	48573666	G	A	18	51047296	y	y	splicing	SMAD4(NM_005359:exon2:c.249+1G>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon3:c.249+1G>A;ENST00000588860:exon2:c.249+1G>A;ENST00000398417:exon2:c.249+1G>A;ENST00000589076:exon2:c.249+1G>A;ENST00000342988:exon2:c.249+1G>A;ENST00000591914:exon2:c.249+1G>A;ENST00000590061:exon2:c.249+1G>A;ENST00000589941:exon2:c.249+1G>A;ENST00000592186:exon1:c.249+1G>A;ENST00000588745:exon1:c.249+1G>A);ENSG00000267699(ENST00000590722:exon3:c.533+1G>A)	.	.	0.999985532734767	0.936
18	48573666	G	C	18	51047296	y	y	splicing	SMAD4(NM_005359:exon2:c.249+1G>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon3:c.249+1G>C;ENST00000588860:exon2:c.249+1G>C;ENST00000398417:exon2:c.249+1G>C;ENST00000589076:exon2:c.249+1G>C;ENST00000342988:exon2:c.249+1G>C;ENST00000591914:exon2:c.249+1G>C;ENST00000590061:exon2:c.249+1G>C;ENST00000589941:exon2:c.249+1G>C;ENST00000592186:exon1:c.249+1G>C;ENST00000588745:exon1:c.249+1G>C);ENSG00000267699(ENST00000590722:exon3:c.533+1G>C)	.	.	0.999985532734767	0.936
18	48573666	G	T	18	51047296	y	y	splicing	SMAD4(NM_005359:exon2:c.249+1G>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon3:c.249+1G>T;ENST00000588860:exon2:c.249+1G>T;ENST00000398417:exon2:c.249+1G>T;ENST00000589076:exon2:c.249+1G>T;ENST00000342988:exon2:c.249+1G>T;ENST00000591914:exon2:c.249+1G>T;ENST00000590061:exon2:c.249+1G>T;ENST00000589941:exon2:c.249+1G>T;ENST00000592186:exon1:c.249+1G>T;ENST00000588745:exon1:c.249+1G>T);ENSG00000267699(ENST00000590722:exon3:c.533+1G>T)	.	.	0.999985532734767	0.936
18	48573667	T	A	18	51047297	y	y	splicing	SMAD4(NM_005359:exon2:c.249+2T>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon3:c.249+2T>A;ENST00000588860:exon2:c.249+2T>A;ENST00000398417:exon2:c.249+2T>A;ENST00000589076:exon2:c.249+2T>A;ENST00000342988:exon2:c.249+2T>A;ENST00000591914:exon2:c.249+2T>A;ENST00000590061:exon2:c.249+2T>A;ENST00000589941:exon2:c.249+2T>A;ENST00000592186:exon1:c.249+2T>A;ENST00000588745:exon1:c.249+2T>A);ENSG00000267699(ENST00000590722:exon3:c.533+2T>A)	.	.	0.999988247793601	0.926
18	48573667	T	C	18	51047297	y	y	splicing	SMAD4(NM_005359:exon2:c.249+2T>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon3:c.249+2T>C;ENST00000588860:exon2:c.249+2T>C;ENST00000398417:exon2:c.249+2T>C;ENST00000589076:exon2:c.249+2T>C;ENST00000342988:exon2:c.249+2T>C;ENST00000591914:exon2:c.249+2T>C;ENST00000590061:exon2:c.249+2T>C;ENST00000589941:exon2:c.249+2T>C;ENST00000592186:exon1:c.249+2T>C;ENST00000588745:exon1:c.249+2T>C);ENSG00000267699(ENST00000590722:exon3:c.533+2T>C)	.	.	0.98918007292081	0.642
18	48573667	T	G	18	51047297	y	y	splicing	SMAD4(NM_005359:exon2:c.249+2T>G)	.	.	splicing	ENSG00000141646(ENST00000452201:exon3:c.249+2T>G;ENST00000588860:exon2:c.249+2T>G;ENST00000398417:exon2:c.249+2T>G;ENST00000589076:exon2:c.249+2T>G;ENST00000342988:exon2:c.249+2T>G;ENST00000591914:exon2:c.249+2T>G;ENST00000590061:exon2:c.249+2T>G;ENST00000589941:exon2:c.249+2T>G;ENST00000592186:exon1:c.249+2T>G;ENST00000588745:exon1:c.249+2T>G);ENSG00000267699(ENST00000590722:exon3:c.533+2T>G)	.	.	0.999988247793601	0.926
18	48573668	T	A	18	51047298	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.31926008769145E-4	0.084
18	48573668	T	C	18	51047298	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.25081536443411E-5	0.006
18	48573668	T	G	18	51047298	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.88918610813304E-4	0.058
18	48573669	A	C	18	51047299	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0595733922484198	0.28
18	48573669	A	G	18	51047299	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0529901011132814	0.34
18	48573669	A	T	18	51047299	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.496623209217693	0.42
18	48573670	G	A	18	51047300	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998914959745903	0.952
18	48573670	G	C	18	51047300	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999700067208652	0.844
18	48573670	G	T	18	51047300	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998205104266488	0.93
18	48573671	T	A	18	51047301	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.897055133428639	0.562
18	48573671	T	C	18	51047301	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.905360134049112	0.616
18	48573671	T	G	18	51047301	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.639739582218858	0.474
18	48573672	C	A	18	51047302	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.82756574731139E-4	0.122
18	48573672	C	G	18	51047302	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.52060331805169E-4	0.124
18	48573672	C	T	18	51047302	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.52060331805169E-4	0.122
18	48573673	T	A	18	51047303	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.96404089075045E-5	0.018
18	48573673	T	C	18	51047303	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.89598363400388E-5	0.018
18	48573673	T	G	18	51047303	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.42095014750824E-5	0.004
18	48575044	T	A	18	51048674	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.519029133215819	0.52
18	48575044	T	C	18	51048674	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00396022861625548	0.054
18	48575044	T	G	18	51048674	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.19743705411515	0.512
18	48575045	T	A	18	51048675	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.115003308586308	0.502
18	48575045	T	C	18	51048675	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00810873305324821	0.08
18	48575045	T	G	18	51048675	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.026148812262587	0.364
18	48575046	A	C	18	51048676	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.68169111983183E-6	0.006
18	48575046	A	G	18	51048676	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.90455086946924E-5	0.008
18	48575046	A	T	18	51048676	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.34892482605977E-5	0.004
18	48575047	T	A	18	51048677	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00490139097083739	0.19
18	48575047	T	C	18	51048677	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.09761282637045E-4	0.002
18	48575047	T	G	18	51048677	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998738477148525	0.964
18	48575048	T	A	18	51048678	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0112612034481911	0.146
18	48575048	T	C	18	51048678	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.94929565533261E-4	0.006
18	48575048	T	G	18	51048678	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.96276863504287E-4	0.14
18	48575049	T	A	18	51048679	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00429193081642925	0.138
18	48575049	T	C	18	51048679	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.29629680457637E-4	0.006
18	48575049	T	G	18	51048679	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00618992969092301	0.14
18	48575050	T	A	18	51048680	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.98725303548603	0.71
18	48575050	T	C	18	51048680	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0442452922671798	0.338
18	48575050	T	G	18	51048680	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.988288754270528	0.75
18	48575051	T	A	18	51048681	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00891807924465209	0.182
18	48575051	T	C	18	51048681	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.81497172058405E-4	0.01
18	48575051	T	G	18	51048681	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00929935310876138	0.208
18	48575052	C	A	18	51048682	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.02067239421778E-4	0.016
18	48575052	C	G	18	51048682	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.2680703280183E-4	0.03
18	48575052	C	T	18	51048682	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.27270635088336E-4	0.012
18	48575053	T	A	18	51048683	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00106366650586207	0.104
18	48575053	T	C	18	51048683	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.8616857309547E-5	0.004
18	48575053	T	G	18	51048683	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.446578645568	0.412
18	48575054	A	C	18	51048684	y	y	splicing	SMAD4(NM_005359:exon3:c.250-2A>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.250-2A>C;ENST00000588860:exon3:c.250-2A>C;ENST00000398417:exon3:c.250-2A>C;ENST00000589076:exon3:c.250-2A>C;ENST00000342988:exon3:c.250-2A>C;ENST00000591914:exon3:c.250-2A>C;ENST00000590061:exon3:c.250-2A>C;ENST00000589941:exon3:c.250-2A>C;ENST00000592186:exon2:c.250-2A>C;ENST00000588745:exon2:c.250-2A>C);ENSG00000267699(ENST00000590722:exon4:c.534-2A>C)	.	.	0.999989917668626	0.926
18	48575054	A	G	18	51048684	y	y	splicing	SMAD4(NM_005359:exon3:c.250-2A>G)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.250-2A>G;ENST00000588860:exon3:c.250-2A>G;ENST00000398417:exon3:c.250-2A>G;ENST00000589076:exon3:c.250-2A>G;ENST00000342988:exon3:c.250-2A>G;ENST00000591914:exon3:c.250-2A>G;ENST00000590061:exon3:c.250-2A>G;ENST00000589941:exon3:c.250-2A>G;ENST00000592186:exon2:c.250-2A>G;ENST00000588745:exon2:c.250-2A>G);ENSG00000267699(ENST00000590722:exon4:c.534-2A>G)	.	.	0.999989917668626	0.926
18	48575054	A	T	18	51048684	y	y	splicing	SMAD4(NM_005359:exon3:c.250-2A>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.250-2A>T;ENST00000588860:exon3:c.250-2A>T;ENST00000398417:exon3:c.250-2A>T;ENST00000589076:exon3:c.250-2A>T;ENST00000342988:exon3:c.250-2A>T;ENST00000591914:exon3:c.250-2A>T;ENST00000590061:exon3:c.250-2A>T;ENST00000589941:exon3:c.250-2A>T;ENST00000592186:exon2:c.250-2A>T;ENST00000588745:exon2:c.250-2A>T);ENSG00000267699(ENST00000590722:exon4:c.534-2A>T)	.	.	0.999989917668626	0.926
18	48575055	G	A	18	51048685	y	y	splicing	SMAD4(NM_005359:exon3:c.250-1G>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.250-1G>A;ENST00000588860:exon3:c.250-1G>A;ENST00000398417:exon3:c.250-1G>A;ENST00000589076:exon3:c.250-1G>A;ENST00000342988:exon3:c.250-1G>A;ENST00000591914:exon3:c.250-1G>A;ENST00000590061:exon3:c.250-1G>A;ENST00000589941:exon3:c.250-1G>A;ENST00000592186:exon2:c.250-1G>A;ENST00000588745:exon2:c.250-1G>A);ENSG00000267699(ENST00000590722:exon4:c.534-1G>A)	.	.	0.999986675681007	0.934
18	48575055	G	C	18	51048685	y	y	splicing	SMAD4(NM_005359:exon3:c.250-1G>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.250-1G>C;ENST00000588860:exon3:c.250-1G>C;ENST00000398417:exon3:c.250-1G>C;ENST00000589076:exon3:c.250-1G>C;ENST00000342988:exon3:c.250-1G>C;ENST00000591914:exon3:c.250-1G>C;ENST00000590061:exon3:c.250-1G>C;ENST00000589941:exon3:c.250-1G>C;ENST00000592186:exon2:c.250-1G>C;ENST00000588745:exon2:c.250-1G>C);ENSG00000267699(ENST00000590722:exon4:c.534-1G>C)	.	.	0.999986675681007	0.934
18	48575055	G	T	18	51048685	y	y	splicing	SMAD4(NM_005359:exon3:c.250-1G>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.250-1G>T;ENST00000588860:exon3:c.250-1G>T;ENST00000398417:exon3:c.250-1G>T;ENST00000589076:exon3:c.250-1G>T;ENST00000342988:exon3:c.250-1G>T;ENST00000591914:exon3:c.250-1G>T;ENST00000590061:exon3:c.250-1G>T;ENST00000589941:exon3:c.250-1G>T;ENST00000592186:exon2:c.250-1G>T;ENST00000588745:exon2:c.250-1G>T);ENSG00000267699(ENST00000590722:exon4:c.534-1G>T)	.	.	0.999986675681007	0.934
18	48575056	G	A	18	51048686	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.G250A:p.V84M;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon3:c.G250A:p.V84M;ENSG00000141646:ENST00000342988:exon3:c.G250A:p.V84M;ENSG00000141646:ENST00000591914:exon3:c.G250A:p.V84M;ENSG00000141646:ENST00000452201:exon4:c.G250A:p.V84M;ENSG00000141646:ENST00000398417:exon3:c.G250A:p.V84M;ENSG00000141646:ENST00000590061:exon3:c.G250A:p.V84M;ENSG00000141646:ENST00000588860:exon3:c.G250A:p.V84M;ENSG00000141646:ENST00000588745:exon2:c.G250A:p.V84M;ENSG00000141646:ENST00000589941:exon3:c.G250A:p.V84M;ENSG00000141646:ENST00000592186:exon2:c.G250A:p.V84M;	0.996680546001034	0.892
18	48575056	G	C	18	51048686	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.G250C:p.V84L;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon3:c.G250C:p.V84L;ENSG00000141646:ENST00000342988:exon3:c.G250C:p.V84L;ENSG00000141646:ENST00000591914:exon3:c.G250C:p.V84L;ENSG00000141646:ENST00000452201:exon4:c.G250C:p.V84L;ENSG00000141646:ENST00000398417:exon3:c.G250C:p.V84L;ENSG00000141646:ENST00000590061:exon3:c.G250C:p.V84L;ENSG00000141646:ENST00000588860:exon3:c.G250C:p.V84L;ENSG00000141646:ENST00000588745:exon2:c.G250C:p.V84L;ENSG00000141646:ENST00000589941:exon3:c.G250C:p.V84L;ENSG00000141646:ENST00000592186:exon2:c.G250C:p.V84L;	0.998773942827404	0.884
18	48575056	G	T	18	51048686	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.G250T:p.V84L;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon3:c.G250T:p.V84L;ENSG00000141646:ENST00000342988:exon3:c.G250T:p.V84L;ENSG00000141646:ENST00000591914:exon3:c.G250T:p.V84L;ENSG00000141646:ENST00000452201:exon4:c.G250T:p.V84L;ENSG00000141646:ENST00000398417:exon3:c.G250T:p.V84L;ENSG00000141646:ENST00000590061:exon3:c.G250T:p.V84L;ENSG00000141646:ENST00000588860:exon3:c.G250T:p.V84L;ENSG00000141646:ENST00000588745:exon2:c.G250T:p.V84L;ENSG00000141646:ENST00000589941:exon3:c.G250T:p.V84L;ENSG00000141646:ENST00000592186:exon2:c.G250T:p.V84L;	0.999628795711051	0.936
18	48575057	T	A	18	51048687	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.T251A:p.V84E;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon3:c.T251A:p.V84E;ENSG00000141646:ENST00000342988:exon3:c.T251A:p.V84E;ENSG00000141646:ENST00000591914:exon3:c.T251A:p.V84E;ENSG00000141646:ENST00000452201:exon4:c.T251A:p.V84E;ENSG00000141646:ENST00000398417:exon3:c.T251A:p.V84E;ENSG00000141646:ENST00000590061:exon3:c.T251A:p.V84E;ENSG00000141646:ENST00000588860:exon3:c.T251A:p.V84E;ENSG00000141646:ENST00000588745:exon2:c.T251A:p.V84E;ENSG00000141646:ENST00000589941:exon3:c.T251A:p.V84E;ENSG00000141646:ENST00000592186:exon2:c.T251A:p.V84E;	0.227652522766165	0.492
18	48575057	T	C	18	51048687	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.T251C:p.V84A;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon3:c.T251C:p.V84A;ENSG00000141646:ENST00000342988:exon3:c.T251C:p.V84A;ENSG00000141646:ENST00000591914:exon3:c.T251C:p.V84A;ENSG00000141646:ENST00000452201:exon4:c.T251C:p.V84A;ENSG00000141646:ENST00000398417:exon3:c.T251C:p.V84A;ENSG00000141646:ENST00000590061:exon3:c.T251C:p.V84A;ENSG00000141646:ENST00000588860:exon3:c.T251C:p.V84A;ENSG00000141646:ENST00000588745:exon2:c.T251C:p.V84A;ENSG00000141646:ENST00000589941:exon3:c.T251C:p.V84A;ENSG00000141646:ENST00000592186:exon2:c.T251C:p.V84A;	0.227652522766165	0.506
18	48575057	T	G	18	51048687	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.T251G:p.V84G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000589076:exon3:c.T251G:p.V84G;ENSG00000141646:ENST00000342988:exon3:c.T251G:p.V84G;ENSG00000141646:ENST00000591914:exon3:c.T251G:p.V84G;ENSG00000141646:ENST00000452201:exon4:c.T251G:p.V84G;ENSG00000141646:ENST00000398417:exon3:c.T251G:p.V84G;ENSG00000141646:ENST00000590061:exon3:c.T251G:p.V84G;ENSG00000141646:ENST00000588860:exon3:c.T251G:p.V84G;ENSG00000141646:ENST00000588745:exon2:c.T251G:p.V84G;ENSG00000141646:ENST00000589941:exon3:c.T251G:p.V84G;ENSG00000141646:ENST00000592186:exon2:c.T251G:p.V84G;	0.19504831295394	0.518
18	48575228	T	A	18	51048858	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.T422A:p.I141N;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.T422A:p.I141N;ENSG00000141646:ENST00000591914:exon3:c.T422A:p.I141N;ENSG00000141646:ENST00000452201:exon4:c.T422A:p.I141N;ENSG00000141646:ENST00000398417:exon3:c.T422A:p.I141N;ENSG00000141646:ENST00000588745:exon2:c.T422A:p.I141N;ENSG00000141646:ENST00000592186:exon2:c.T422A:p.I141N;	0.449646628507292	0.676
18	48575228	T	C	18	51048858	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.T422C:p.I141T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.T422C:p.I141T;ENSG00000141646:ENST00000591914:exon3:c.T422C:p.I141T;ENSG00000141646:ENST00000452201:exon4:c.T422C:p.I141T;ENSG00000141646:ENST00000398417:exon3:c.T422C:p.I141T;ENSG00000141646:ENST00000588745:exon2:c.T422C:p.I141T;ENSG00000141646:ENST00000592186:exon2:c.T422C:p.I141T;	0.481017310949604	0.58
18	48575228	T	G	18	51048858	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.T422G:p.I141S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.T422G:p.I141S;ENSG00000141646:ENST00000591914:exon3:c.T422G:p.I141S;ENSG00000141646:ENST00000452201:exon4:c.T422G:p.I141S;ENSG00000141646:ENST00000398417:exon3:c.T422G:p.I141S;ENSG00000141646:ENST00000588745:exon2:c.T422G:p.I141S;ENSG00000141646:ENST00000592186:exon2:c.T422G:p.I141S;	0.563982586604064	0.704
18	48575229	T	A	18	51048859	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon3:c.T423A:p.I141I;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.T423A:p.I141I;ENSG00000141646:ENST00000591914:exon3:c.T423A:p.I141I;ENSG00000141646:ENST00000452201:exon4:c.T423A:p.I141I;ENSG00000141646:ENST00000398417:exon3:c.T423A:p.I141I;ENSG00000141646:ENST00000588745:exon2:c.T423A:p.I141I;ENSG00000141646:ENST00000592186:exon2:c.T423A:p.I141I;	0.0016967410703801	0.138
18	48575229	T	C	18	51048859	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon3:c.T423C:p.I141I;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.T423C:p.I141I;ENSG00000141646:ENST00000591914:exon3:c.T423C:p.I141I;ENSG00000141646:ENST00000452201:exon4:c.T423C:p.I141I;ENSG00000141646:ENST00000398417:exon3:c.T423C:p.I141I;ENSG00000141646:ENST00000588745:exon2:c.T423C:p.I141I;ENSG00000141646:ENST00000592186:exon2:c.T423C:p.I141I;	0.00192777261939006	0.042
18	48575229	T	G	18	51048859	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.T423G:p.I141M;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.T423G:p.I141M;ENSG00000141646:ENST00000591914:exon3:c.T423G:p.I141M;ENSG00000141646:ENST00000452201:exon4:c.T423G:p.I141M;ENSG00000141646:ENST00000398417:exon3:c.T423G:p.I141M;ENSG00000141646:ENST00000588745:exon2:c.T423G:p.I141M;ENSG00000141646:ENST00000592186:exon2:c.T423G:p.I141M;	0.0414948521809934	0.228
18	48575230	G	A	18	51048860	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.G424A:p.D142N;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.G424A:p.D142N;ENSG00000141646:ENST00000591914:exon3:c.G424A:p.D142N;ENSG00000141646:ENST00000452201:exon4:c.G424A:p.D142N;ENSG00000141646:ENST00000398417:exon3:c.G424A:p.D142N;ENSG00000141646:ENST00000588745:exon2:c.G424A:p.D142N;ENSG00000141646:ENST00000592186:exon2:c.G424A:p.D142N;	0.99993802281568	0.982
18	48575230	G	C	18	51048860	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.G424C:p.D142H;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.G424C:p.D142H;ENSG00000141646:ENST00000591914:exon3:c.G424C:p.D142H;ENSG00000141646:ENST00000452201:exon4:c.G424C:p.D142H;ENSG00000141646:ENST00000398417:exon3:c.G424C:p.D142H;ENSG00000141646:ENST00000588745:exon2:c.G424C:p.D142H;ENSG00000141646:ENST00000592186:exon2:c.G424C:p.D142H;	0.999949190868537	0.98
18	48575230	G	T	18	51048860	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon3:c.G424T:p.D142Y;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon3:c.G424T:p.D142Y;ENSG00000141646:ENST00000591914:exon3:c.G424T:p.D142Y;ENSG00000141646:ENST00000452201:exon4:c.G424T:p.D142Y;ENSG00000141646:ENST00000398417:exon3:c.G424T:p.D142Y;ENSG00000141646:ENST00000588745:exon2:c.G424T:p.D142Y;ENSG00000141646:ENST00000592186:exon2:c.G424T:p.D142Y;	0.999922299839395	0.866
18	48575231	G	A	18	51048861	y	y	splicing	SMAD4(NM_005359:exon3:c.424+1G>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.424+1G>A;ENST00000398417:exon3:c.424+1G>A;ENST00000342988:exon3:c.424+1G>A;ENST00000591914:exon3:c.424+1G>A;ENST00000592186:exon2:c.424+1G>A;ENST00000588745:exon2:c.424+1G>A);ENSG00000267699(ENST00000590722:exon4:c.708+1G>A)	.	.	0.999986675681007	0.934
18	48575231	G	C	18	51048861	y	y	splicing	SMAD4(NM_005359:exon3:c.424+1G>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.424+1G>C;ENST00000398417:exon3:c.424+1G>C;ENST00000342988:exon3:c.424+1G>C;ENST00000591914:exon3:c.424+1G>C;ENST00000592186:exon2:c.424+1G>C;ENST00000588745:exon2:c.424+1G>C);ENSG00000267699(ENST00000590722:exon4:c.708+1G>C)	.	.	0.999986675681007	0.934
18	48575231	G	T	18	51048861	y	y	splicing	SMAD4(NM_005359:exon3:c.424+1G>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.424+1G>T;ENST00000398417:exon3:c.424+1G>T;ENST00000342988:exon3:c.424+1G>T;ENST00000591914:exon3:c.424+1G>T;ENST00000592186:exon2:c.424+1G>T;ENST00000588745:exon2:c.424+1G>T);ENSG00000267699(ENST00000590722:exon4:c.708+1G>T)	.	.	0.999986675681007	0.934
18	48575232	T	A	18	51048862	y	y	splicing	SMAD4(NM_005359:exon3:c.424+2T>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.424+2T>A;ENST00000398417:exon3:c.424+2T>A;ENST00000342988:exon3:c.424+2T>A;ENST00000591914:exon3:c.424+2T>A;ENST00000592186:exon2:c.424+2T>A;ENST00000588745:exon2:c.424+2T>A);ENSG00000267699(ENST00000590722:exon4:c.708+2T>A)	.	.	0.999989917668626	0.928
18	48575232	T	C	18	51048862	y	y	splicing	SMAD4(NM_005359:exon3:c.424+2T>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.424+2T>C;ENST00000398417:exon3:c.424+2T>C;ENST00000342988:exon3:c.424+2T>C;ENST00000591914:exon3:c.424+2T>C;ENST00000592186:exon2:c.424+2T>C;ENST00000588745:exon2:c.424+2T>C);ENSG00000267699(ENST00000590722:exon4:c.708+2T>C)	.	.	0.994485838132979	0.636
18	48575232	T	G	18	51048862	y	y	splicing	SMAD4(NM_005359:exon3:c.424+2T>G)	.	.	splicing	ENSG00000141646(ENST00000452201:exon4:c.424+2T>G;ENST00000398417:exon3:c.424+2T>G;ENST00000342988:exon3:c.424+2T>G;ENST00000591914:exon3:c.424+2T>G;ENST00000592186:exon2:c.424+2T>G;ENST00000588745:exon2:c.424+2T>G);ENSG00000267699(ENST00000590722:exon4:c.708+2T>G)	.	.	0.999989917668626	0.928
18	48575233	A	C	18	51048863	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.994298674776079	0.862
18	48575233	A	G	18	51048863	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00884840763665475	0.126
18	48575233	A	T	18	51048863	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.973198996383901	0.714
18	48575234	A	C	18	51048864	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.15648387716844	0.298
18	48575234	A	G	18	51048864	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.736395878763931	0.484
18	48575234	A	T	18	51048864	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.862018725475334	0.39
18	48575235	G	A	18	51048865	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.997311717813364	0.934
18	48575235	G	C	18	51048865	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.994856237420073	0.922
18	48575235	G	T	18	51048865	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998360757243533	0.876
18	48575236	T	A	18	51048866	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00277824122822205	0.142
18	48575236	T	C	18	51048866	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00834649992340978	0.204
18	48575236	T	G	18	51048866	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.36190239422399E-4	0.124
18	48575237	A	C	18	51048867	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.13563380370127E-4	0.012
18	48575237	A	G	18	51048867	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.69567748364294E-4	0.01
18	48575237	A	T	18	51048867	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.27554537890337E-4	0.002
18	48575238	G	A	18	51048868	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	8.87763662834344E-5	0.008
18	48575238	G	C	18	51048868	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.02228793720672E-4	0.006
18	48575238	G	T	18	51048868	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	8.67771059983109E-5	0.008
18	48575653	T	A	18	51049283	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0264450461882274	0.32
18	48575653	T	C	18	51049283	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.97509967474919E-4	0.066
18	48575653	T	G	18	51049283	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00468453075698489	0.316
18	48575654	A	C	18	51049284	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.02768974834059E-4	0.018
18	48575654	A	G	18	51049284	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.7097976994505E-5	0.032
18	48575654	A	T	18	51049284	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.7213084266072E-4	0.14
18	48575655	A	C	18	51049285	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.58562200153714E-4	0.106
18	48575655	A	G	18	51049285	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998604187215529	0.896
18	48575655	A	T	18	51049285	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00386516759790602	0.082
18	48575656	A	C	18	51049286	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00227773150071707	0.064
18	48575656	A	G	18	51049286	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998598556273118	0.892
18	48575656	A	T	18	51049286	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00570922161942182	0.066
18	48575657	C	A	18	51049287	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.87005946701139E-4	0.188
18	48575657	C	G	18	51049287	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.984304355330622	0.918
18	48575657	C	T	18	51049287	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.27472379898459E-5	0.02
18	48575658	A	C	18	51049288	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.41902577846625E-5	0.01
18	48575658	A	G	18	51049288	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00253254587032378	0.026
18	48575658	A	T	18	51049288	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.97730013711944E-4	0.052
18	48575659	A	C	18	51049289	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.79005937740945E-4	0.108
18	48575659	A	G	18	51049289	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999519118303827	0.974
18	48575659	A	T	18	51049289	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.74191252718869E-4	0.038
18	48575660	T	A	18	51049290	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.972258942593711	0.742
18	48575660	T	C	18	51049290	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.195869661540791	0.362
18	48575660	T	G	18	51049290	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999275753596648	0.93
18	48575661	T	A	18	51049291	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0133679547413543	0.098
18	48575661	T	C	18	51049291	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.69263335258411E-4	0.05
18	48575661	T	G	18	51049291	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.41584824250354E-4	0.038
18	48575662	A	C	18	51049292	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	8.54680083088981E-4	0.06
18	48575662	A	G	18	51049292	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0621474242906106	0.258
18	48575662	A	T	18	51049292	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.12248900075478E-4	0.024
18	48575663	A	C	18	51049293	y	y	splicing	SMAD4(NM_005359:exon4:c.425-2A>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.425-2A>C;ENST00000398417:exon4:c.425-2A>C;ENST00000342988:exon4:c.425-2A>C;ENST00000591914:exon4:c.425-2A>C;ENST00000592186:exon3:c.425-2A>C;ENST00000588745:exon3:c.425-2A>C);ENSG00000267699(ENST00000590722:exon5:c.709-2A>C)	.	.	0.99994515364607	0.888
18	48575663	A	G	18	51049293	y	y	splicing	SMAD4(NM_005359:exon4:c.425-2A>G)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.425-2A>G;ENST00000398417:exon4:c.425-2A>G;ENST00000342988:exon4:c.425-2A>G;ENST00000591914:exon4:c.425-2A>G;ENST00000592186:exon3:c.425-2A>G;ENST00000588745:exon3:c.425-2A>G);ENSG00000267699(ENST00000590722:exon5:c.709-2A>G)	.	.	0.99994515364607	0.888
18	48575663	A	T	18	51049293	y	y	splicing	SMAD4(NM_005359:exon4:c.425-2A>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.425-2A>T;ENST00000398417:exon4:c.425-2A>T;ENST00000342988:exon4:c.425-2A>T;ENST00000591914:exon4:c.425-2A>T;ENST00000592186:exon3:c.425-2A>T;ENST00000588745:exon3:c.425-2A>T);ENSG00000267699(ENST00000590722:exon5:c.709-2A>T)	.	.	0.99994515364607	0.888
18	48575664	G	A	18	51049294	y	y	splicing	SMAD4(NM_005359:exon4:c.425-1G>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.425-1G>A;ENST00000398417:exon4:c.425-1G>A;ENST00000342988:exon4:c.425-1G>A;ENST00000591914:exon4:c.425-1G>A;ENST00000592186:exon3:c.425-1G>A;ENST00000588745:exon3:c.425-1G>A);ENSG00000267699(ENST00000590722:exon5:c.709-1G>A)	.	.	0.999985960103954	0.888
18	48575664	G	C	18	51049294	y	y	splicing	SMAD4(NM_005359:exon4:c.425-1G>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.425-1G>C;ENST00000398417:exon4:c.425-1G>C;ENST00000342988:exon4:c.425-1G>C;ENST00000591914:exon4:c.425-1G>C;ENST00000592186:exon3:c.425-1G>C;ENST00000588745:exon3:c.425-1G>C);ENSG00000267699(ENST00000590722:exon5:c.709-1G>C)	.	.	0.999985960103954	0.886
18	48575664	G	T	18	51049294	y	y	splicing	SMAD4(NM_005359:exon4:c.425-1G>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.425-1G>T;ENST00000398417:exon4:c.425-1G>T;ENST00000342988:exon4:c.425-1G>T;ENST00000591914:exon4:c.425-1G>T;ENST00000592186:exon3:c.425-1G>T;ENST00000588745:exon3:c.425-1G>T);ENSG00000267699(ENST00000590722:exon5:c.709-1G>T)	.	.	0.999985960103954	0.888
18	48575665	A	C	18	51049295	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.A425C:p.D142A;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.A425C:p.D142A;ENSG00000141646:ENST00000591914:exon4:c.A425C:p.D142A;ENSG00000141646:ENST00000452201:exon5:c.A425C:p.D142A;ENSG00000141646:ENST00000398417:exon4:c.A425C:p.D142A;ENSG00000141646:ENST00000588745:exon3:c.A425C:p.D142A;ENSG00000141646:ENST00000592186:exon3:c.A425C:p.D142A;	0.75002613199548	0.536
18	48575665	A	G	18	51049295	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.A425G:p.D142G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.A425G:p.D142G;ENSG00000141646:ENST00000591914:exon4:c.A425G:p.D142G;ENSG00000141646:ENST00000452201:exon5:c.A425G:p.D142G;ENSG00000141646:ENST00000398417:exon4:c.A425G:p.D142G;ENSG00000141646:ENST00000588745:exon3:c.A425G:p.D142G;ENSG00000141646:ENST00000592186:exon3:c.A425G:p.D142G;	0.819577253775494	0.656
18	48575665	A	T	18	51049295	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.A425T:p.D142V;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.A425T:p.D142V;ENSG00000141646:ENST00000591914:exon4:c.A425T:p.D142V;ENSG00000141646:ENST00000452201:exon5:c.A425T:p.D142V;ENSG00000141646:ENST00000398417:exon4:c.A425T:p.D142V;ENSG00000141646:ENST00000588745:exon3:c.A425T:p.D142V;ENSG00000141646:ENST00000592186:exon3:c.A425T:p.D142V;	0.691313180596205	0.496
18	48575666	T	A	18	51049296	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.T426A:p.D142E;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.T426A:p.D142E;ENSG00000141646:ENST00000591914:exon4:c.T426A:p.D142E;ENSG00000141646:ENST00000452201:exon5:c.T426A:p.D142E;ENSG00000141646:ENST00000398417:exon4:c.T426A:p.D142E;ENSG00000141646:ENST00000588745:exon3:c.T426A:p.D142E;ENSG00000141646:ENST00000592186:exon3:c.T426A:p.D142E;	0.134467955436636	0.336
18	48575666	T	C	18	51049296	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon4:c.T426C:p.D142D;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.T426C:p.D142D;ENSG00000141646:ENST00000591914:exon4:c.T426C:p.D142D;ENSG00000141646:ENST00000452201:exon5:c.T426C:p.D142D;ENSG00000141646:ENST00000398417:exon4:c.T426C:p.D142D;ENSG00000141646:ENST00000588745:exon3:c.T426C:p.D142D;ENSG00000141646:ENST00000592186:exon3:c.T426C:p.D142D;	0.0701993698101084	0.22
18	48575666	T	G	18	51049296	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.T426G:p.D142E;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.T426G:p.D142E;ENSG00000141646:ENST00000591914:exon4:c.T426G:p.D142E;ENSG00000141646:ENST00000452201:exon5:c.T426G:p.D142E;ENSG00000141646:ENST00000398417:exon4:c.T426G:p.D142E;ENSG00000141646:ENST00000588745:exon3:c.T426G:p.D142E;ENSG00000141646:ENST00000592186:exon3:c.T426G:p.D142E;	0.129758610322013	0.322
18	48575692	A	C	18	51049322	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.A452C:p.N151T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.A452C:p.N151T;ENSG00000141646:ENST00000591914:exon4:c.A452C:p.N151T;ENSG00000141646:ENST00000452201:exon5:c.A452C:p.N151T;ENSG00000141646:ENST00000398417:exon4:c.A452C:p.N151T;ENSG00000141646:ENST00000588745:exon3:c.A452C:p.N151T;ENSG00000141646:ENST00000592186:exon3:c.A452C:p.N151T;	2.61923759079869E-4	0.004
18	48575692	A	G	18	51049322	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.A452G:p.N151S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.A452G:p.N151S;ENSG00000141646:ENST00000591914:exon4:c.A452G:p.N151S;ENSG00000141646:ENST00000452201:exon5:c.A452G:p.N151S;ENSG00000141646:ENST00000398417:exon4:c.A452G:p.N151S;ENSG00000141646:ENST00000588745:exon3:c.A452G:p.N151S;ENSG00000141646:ENST00000592186:exon3:c.A452G:p.N151S;	2.06324517857687E-4	0.012
18	48575692	A	T	18	51049322	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.A452T:p.N151I;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.A452T:p.N151I;ENSG00000141646:ENST00000591914:exon4:c.A452T:p.N151I;ENSG00000141646:ENST00000452201:exon5:c.A452T:p.N151I;ENSG00000141646:ENST00000398417:exon4:c.A452T:p.N151I;ENSG00000141646:ENST00000588745:exon3:c.A452T:p.N151I;ENSG00000141646:ENST00000592186:exon3:c.A452T:p.N151I;	0.165197283764695	0.44
18	48575693	T	A	18	51049323	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.T453A:p.N151K;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.T453A:p.N151K;ENSG00000141646:ENST00000591914:exon4:c.T453A:p.N151K;ENSG00000141646:ENST00000452201:exon5:c.T453A:p.N151K;ENSG00000141646:ENST00000398417:exon4:c.T453A:p.N151K;ENSG00000141646:ENST00000588745:exon3:c.T453A:p.N151K;ENSG00000141646:ENST00000592186:exon3:c.T453A:p.N151K;	0.00101792444523924	0.142
18	48575693	T	C	18	51049323	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon4:c.T453C:p.N151N;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.T453C:p.N151N;ENSG00000141646:ENST00000591914:exon4:c.T453C:p.N151N;ENSG00000141646:ENST00000452201:exon5:c.T453C:p.N151N;ENSG00000141646:ENST00000398417:exon4:c.T453C:p.N151N;ENSG00000141646:ENST00000588745:exon3:c.T453C:p.N151N;ENSG00000141646:ENST00000592186:exon3:c.T453C:p.N151N;	0.00786852238154381	0.076
18	48575693	T	G	18	51049323	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.T453G:p.N151K;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.T453G:p.N151K;ENSG00000141646:ENST00000591914:exon4:c.T453G:p.N151K;ENSG00000141646:ENST00000452201:exon5:c.T453G:p.N151K;ENSG00000141646:ENST00000398417:exon4:c.T453G:p.N151K;ENSG00000141646:ENST00000588745:exon3:c.T453G:p.N151K;ENSG00000141646:ENST00000592186:exon3:c.T453G:p.N151K;	0.0207225901892771	0.144
18	48575694	G	A	18	51049324	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.G454A:p.A152T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.G454A:p.A152T;ENSG00000141646:ENST00000452201:exon5:c.G454A:p.E152K;ENSG00000141646:ENST00000398417:exon4:c.G454A:p.A152T;ENSG00000141646:ENST00000588745:exon3:c.G454A:p.A152T;ENSG00000141646:ENST00000592186:exon3:c.G454A:p.A152T;	0.999984624755917	1.0
18	48575694	G	C	18	51049324	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.G454C:p.A152P;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon4:c.G454C:p.A152P;ENSG00000141646:ENST00000452201:exon5:c.G454C:p.E152Q;ENSG00000141646:ENST00000398417:exon4:c.G454C:p.A152P;ENSG00000141646:ENST00000588745:exon3:c.G454C:p.A152P;ENSG00000141646:ENST00000592186:exon3:c.G454C:p.A152P;	0.999975172511774	0.988
18	48575694	G	T	18	51049324	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon4:c.G454T:p.A152S;	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000452201:exon5:c.G454T:p.E152X;	0.999977277538794	0.934
18	48575695	G	A	18	51049325	y	y	splicing	SMAD4(NM_005359:exon4:c.454+1G>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.454+1G>A;ENST00000398417:exon4:c.454+1G>A;ENST00000342988:exon4:c.454+1G>A;ENST00000592186:exon3:c.454+1G>A;ENST00000588745:exon3:c.454+1G>A);ENSG00000267699(ENST00000590722:exon5:c.738+1G>A)	.	.	0.999989072007339	0.934
18	48575695	G	C	18	51049325	y	y	splicing	SMAD4(NM_005359:exon4:c.454+1G>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.454+1G>C;ENST00000398417:exon4:c.454+1G>C;ENST00000342988:exon4:c.454+1G>C;ENST00000592186:exon3:c.454+1G>C;ENST00000588745:exon3:c.454+1G>C);ENSG00000267699(ENST00000590722:exon5:c.738+1G>C)	.	.	0.999989072007339	0.932
18	48575695	G	T	18	51049325	y	y	splicing	SMAD4(NM_005359:exon4:c.454+1G>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.454+1G>T;ENST00000398417:exon4:c.454+1G>T;ENST00000342988:exon4:c.454+1G>T;ENST00000592186:exon3:c.454+1G>T;ENST00000588745:exon3:c.454+1G>T);ENSG00000267699(ENST00000590722:exon5:c.738+1G>T)	.	.	0.999989072007339	0.934
18	48575696	T	A	18	51049326	y	y	splicing	SMAD4(NM_005359:exon4:c.454+2T>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.454+2T>A;ENST00000398417:exon4:c.454+2T>A;ENST00000342988:exon4:c.454+2T>A;ENST00000592186:exon3:c.454+2T>A;ENST00000588745:exon3:c.454+2T>A);ENSG00000267699(ENST00000590722:exon5:c.738+2T>A)	.	.	0.999988247793601	0.932
18	48575696	T	C	18	51049326	y	y	splicing	SMAD4(NM_005359:exon4:c.454+2T>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.454+2T>C;ENST00000398417:exon4:c.454+2T>C;ENST00000342988:exon4:c.454+2T>C;ENST00000592186:exon3:c.454+2T>C;ENST00000588745:exon3:c.454+2T>C);ENSG00000267699(ENST00000590722:exon5:c.738+2T>C)	.	.	0.996218475494576	0.704
18	48575696	T	G	18	51049326	y	y	splicing	SMAD4(NM_005359:exon4:c.454+2T>G)	.	.	splicing	ENSG00000141646(ENST00000452201:exon5:c.454+2T>G;ENST00000398417:exon4:c.454+2T>G;ENST00000342988:exon4:c.454+2T>G;ENST00000592186:exon3:c.454+2T>G;ENST00000588745:exon3:c.454+2T>G);ENSG00000267699(ENST00000590722:exon5:c.738+2T>G)	.	.	0.999988247793601	0.932
18	48575697	A	C	18	51049327	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999249576630127	0.886
18	48575697	A	G	18	51049327	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998385398545113	0.966
18	48575697	A	T	18	51049327	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999069956623758	0.928
18	48575698	G	A	18	51049328	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.19427828514942E-4	0.07
18	48575698	G	C	18	51049328	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.18702844403529E-4	0.02
18	48575698	G	T	18	51049328	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.0693687458055E-4	0.006
18	48575699	G	A	18	51049329	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999968755827034	1.0
18	48575699	G	C	18	51049329	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.99998694934579	0.966
18	48575699	G	T	18	51049329	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999986827894857	0.984
18	48575700	T	A	18	51049330	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.996965614991596	0.82
18	48575700	T	C	18	51049330	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.987140973462397	0.746
18	48575700	T	G	18	51049330	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.996183480246885	0.916
18	48575701	A	C	18	51049331	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0422207539346615	0.136
18	48575701	A	G	18	51049331	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0787499856194895	0.184
18	48575701	A	T	18	51049331	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.785234611172012	0.264
18	48575702	A	C	18	51049332	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0110381577454684	0.12
18	48575702	A	G	18	51049332	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00131029514144108	0.072
18	48575702	A	T	18	51049332	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0179996852142159	0.112
18	48577712	T	A	18	51051342	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.034
18	48577712	T	C	18	51051342	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.034
18	48577712	T	G	18	51051342	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.034
18	48577713	T	A	18	51051343	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.46825821944466E-5	0.034
18	48577713	T	C	18	51051343	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.46825821944466E-5	0.034
18	48577713	T	G	18	51051343	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.46825821944466E-5	0.034
18	48577714	A	C	18	51051344	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.08103855812152E-5	0.024
18	48577714	A	G	18	51051344	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.08103855812152E-5	0.024
18	48577714	A	T	18	51051344	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.08103855812152E-5	0.024
18	48577715	T	A	18	51051345	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.26424982550682E-5	0.0
18	48577715	T	C	18	51051345	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.26424982550682E-5	0.0
18	48577715	T	G	18	51051345	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.26424982550682E-5	0.0
18	48577716	T	A	18	51051346	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.03
18	48577716	T	C	18	51051346	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.03
18	48577716	T	G	18	51051346	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.03
18	48577717	T	A	18	51051347	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.03
18	48577717	T	C	18	51051347	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.03
18	48577717	T	G	18	51051347	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.25107246889225E-4	0.03
18	48577718	C	A	18	51051348	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.59191692324503E-5	0.044
18	48577718	C	G	18	51051348	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.17880732468024E-5	0.052
18	48577718	C	T	18	51051348	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.59191692324503E-5	0.068
18	48577719	C	A	18	51051349	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.75716121668842E-5	0.072
18	48577719	C	G	18	51051349	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.75716121668842E-5	0.072
18	48577719	C	T	18	51051349	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.75716121668842E-5	0.072
18	48577720	T	A	18	51051350	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.70552093357571E-5	0.028
18	48577720	T	C	18	51051350	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.70552093357571E-5	0.028
18	48577720	T	G	18	51051350	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.70552093357571E-5	0.028
18	48577721	C	A	18	51051351	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.39502748842236E-5	0.006
18	48577721	C	G	18	51051351	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.39502748842236E-5	0.03
18	48577721	C	T	18	51051351	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.39502748842236E-5	0.008
18	48577722	A	C	18	51051352	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.455-2A>C);ENSG00000267699(ENST00000590722:exon6:c.739-2A>C)	.	.	3.4403840789577E-4	0.006
18	48577722	A	G	18	51051352	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.455-2A>G);ENSG00000267699(ENST00000590722:exon6:c.739-2A>G)	.	.	3.4403840789577E-4	0.006
18	48577722	A	T	18	51051352	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.455-2A>T);ENSG00000267699(ENST00000590722:exon6:c.739-2A>T)	.	.	6.38118228050303E-4	0.006
18	48577723	G	A	18	51051353	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.455-1G>A);ENSG00000267699(ENST00000590722:exon6:c.739-1G>A)	.	.	1.74480241737554E-4	0.006
18	48577723	G	C	18	51051353	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.455-1G>C);ENSG00000267699(ENST00000590722:exon6:c.739-1G>C)	.	.	1.74480241737554E-4	0.004
18	48577723	G	T	18	51051353	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.455-1G>T);ENSG00000267699(ENST00000590722:exon6:c.739-1G>T)	.	.	1.74480241737554E-4	0.006
18	48577724	A	C	18	51051354	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A455C:p.E152A;	6.38118228050303E-4	0.006
18	48577724	A	G	18	51051354	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A455G:p.E152G;	6.16979026867853E-4	0.006
18	48577724	A	T	18	51051354	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A455T:p.E152V;	6.38118228050303E-4	0.006
18	48577725	A	C	18	51051355	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A456C:p.E152D;	4.40834656282931E-5	0.004
18	48577725	A	G	18	51051355	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A456G:p.E152E;	4.40834656282931E-5	0.004
18	48577725	A	T	18	51051355	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A456T:p.E152D;	4.40834656282931E-5	0.004
18	48577783	C	A	18	51051413	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.C514A:p.Q172K;	6.05670308788612E-5	0.006
18	48577783	C	G	18	51051413	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.C514G:p.Q172E;	1.65194182432092E-5	0.072
18	48577783	C	T	18	51051413	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000452201:exon6:c.C514T:p.Q172X;	0.00154626470628424	0.03
18	48577784	A	C	18	51051414	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A515C:p.Q172P;	2.27441863384418E-5	0.0
18	48577784	A	G	18	51051414	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A515G:p.Q172R;	5.82524543888414E-5	0.0
18	48577784	A	T	18	51051414	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.A515T:p.Q172L;	5.82524543888414E-5	0.014
18	48577785	G	A	18	51051415	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.G516A:p.Q172Q;	1.21941624752077E-4	0.086
18	48577785	G	C	18	51051415	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.G516C:p.Q172H;	3.00286289604843E-5	0.0
18	48577785	G	T	18	51051415	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon6:c.G516T:p.Q172H;	3.00286289604843E-5	0.0
18	48577786	G	A	18	51051416	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.516+1G>A);ENSG00000267699(ENST00000590722:exon6:c.800+1G>A)	.	.	3.07508928455348E-5	0.0
18	48577786	G	C	18	51051416	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.516+1G>C);ENSG00000267699(ENST00000590722:exon6:c.800+1G>C)	.	.	3.07508928455348E-5	0.004
18	48577786	G	T	18	51051416	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.516+1G>T);ENSG00000267699(ENST00000590722:exon6:c.800+1G>T)	.	.	3.07508928455348E-5	0.0
18	48577787	T	A	18	51051417	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.516+2T>A);ENSG00000267699(ENST00000590722:exon6:c.800+2T>A)	.	.	2.61811153049764E-5	0.002
18	48577787	T	C	18	51051417	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.516+2T>C);ENSG00000267699(ENST00000590722:exon6:c.800+2T>C)	.	.	1.69496022197718E-5	0.008
18	48577787	T	G	18	51051417	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon6:c.516+2T>G);ENSG00000267699(ENST00000590722:exon6:c.800+2T>G)	.	.	1.69496022197718E-5	0.008
18	48577788	A	C	18	51051418	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.30022573763334E-5	0.01
18	48577788	A	G	18	51051418	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.30022573763334E-5	0.01
18	48577788	A	T	18	51051418	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.89205754540505E-5	0.004
18	48577789	A	C	18	51051419	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.51589443294673E-5	0.072
18	48577789	A	G	18	51051419	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.51589443294673E-5	0.072
18	48577789	A	T	18	51051419	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.51589443294673E-5	0.072
18	48577790	C	A	18	51051420	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.20695034961553E-5	0.008
18	48577790	C	G	18	51051420	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.20695034961553E-5	0.006
18	48577790	C	T	18	51051420	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.20695034961553E-5	0.004
18	48577791	T	A	18	51051421	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.62850261126439E-6	0.0
18	48577791	T	C	18	51051421	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.39471642151905E-5	0.0
18	48577791	T	G	18	51051421	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.62850261126439E-6	0.0
18	48577792	A	C	18	51051422	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.33833472525359E-5	0.0
18	48577792	A	G	18	51051422	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.33833472525359E-5	0.0
18	48577792	A	T	18	51051422	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.33833472525359E-5	0.0
18	48577793	A	C	18	51051423	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.26424982550682E-5	0.0
18	48577793	A	G	18	51051423	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.26424982550682E-5	0.0
18	48577793	A	T	18	51051423	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.26424982550682E-5	0.0
18	48578993	T	A	18	51052623	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.336057271416644	0.706
18	48578993	T	C	18	51052623	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.174470020928857	0.678
18	48578993	T	G	18	51052623	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.198765531689179	0.722
18	48578994	T	A	18	51052624	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.296884270394244	0.706
18	48578994	T	C	18	51052624	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.174470020928857	0.662
18	48578994	T	G	18	51052624	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.174470020928857	0.668
18	48578995	T	A	18	51052625	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.404839813094481	0.724
18	48578995	T	C	18	51052625	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.379041327315958	0.762
18	48578995	T	G	18	51052625	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.379041327315958	0.766
18	48578996	T	A	18	51052626	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0010908990512692	0.064
18	48578996	T	C	18	51052626	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0010908990512692	0.064
18	48578996	T	G	18	51052626	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0010908990512692	0.064
18	48578997	T	A	18	51052627	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	8.97313848938565E-4	0.02
18	48578997	T	C	18	51052627	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00142350930549118	0.022
18	48578997	T	G	18	51052627	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00142350930549118	0.024
18	48578998	T	A	18	51052628	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.20426978503374E-4	0.1
18	48578998	T	C	18	51052628	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.72026604098192E-4	0.1
18	48578998	T	G	18	51052628	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.72026604098192E-4	0.1
18	48578999	G	A	18	51052629	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.00264489829472E-4	0.02
18	48578999	G	C	18	51052629	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.65751777563252E-5	0.02
18	48578999	G	T	18	51052629	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.65751777563252E-5	0.02
18	48579000	A	C	18	51052630	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00140830567855165	0.026
18	48579000	A	G	18	51052630	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00140830567855165	0.026
18	48579000	A	T	18	51052630	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00166922796589821	0.03
18	48579001	A	C	18	51052631	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00166922796589821	0.018
18	48579001	A	G	18	51052631	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00166922796589821	0.018
18	48579001	A	T	18	51052631	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00160068091988522	0.02
18	48579002	T	A	18	51052632	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00157480587162464	0.018
18	48579002	T	C	18	51052632	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	8.97313848938565E-4	0.018
18	48579002	T	G	18	51052632	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	8.97313848938565E-4	0.018
18	48579003	A	C	18	51052633	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.517-2A>C);ENSG00000267699(ENST00000590722:exon7:c.801-2A>C)	.	.	0.0259375508853287	0.392
18	48579003	A	G	18	51052633	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.517-2A>G);ENSG00000267699(ENST00000590722:exon7:c.801-2A>G)	.	.	0.0259375508853287	0.392
18	48579003	A	T	18	51052633	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.517-2A>T);ENSG00000267699(ENST00000590722:exon7:c.801-2A>T)	.	.	0.0743476085724079	0.486
18	48579004	G	A	18	51052634	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.517-1G>A);ENSG00000267699(ENST00000590722:exon7:c.801-1G>A)	.	.	1.28070603525133E-4	0.008
18	48579004	G	C	18	51052634	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.517-1G>C);ENSG00000267699(ENST00000590722:exon7:c.801-1G>C)	.	.	1.11536362476648E-4	0.016
18	48579004	G	T	18	51052634	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.517-1G>T);ENSG00000267699(ENST00000590722:exon7:c.801-1G>T)	.	.	1.01533931480114E-4	0.006
18	48579005	G	A	18	51052635	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon7:c.G517A:p.A173T;	0.0102637097925253	0.034
18	48579005	G	C	18	51052635	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon7:c.G517C:p.A173P;	0.00622786257598514	0.02
18	48579005	G	T	18	51052635	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon7:c.G517T:p.A173S;	0.00274508043566694	0.03
18	48579006	C	A	18	51052636	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon7:c.C518A:p.A173E;	0.0102637097925253	0.03
18	48579006	C	G	18	51052636	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon7:c.C518G:p.A173G;	0.001596013583427	0.028
18	48579006	C	T	18	51052636	n	y	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000452201:exon7:c.C518T:p.A173V;	0.00918874967650165	0.022
18	48579093	C	A	18	51052723	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	6.10920073924505E-5	0.072
18	48579093	C	G	18	51052723	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	6.10920073924505E-5	0.072
18	48579093	C	T	18	51052723	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	6.10920073924505E-5	0.072
18	48579094	A	C	18	51052724	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	1.24444171534012E-4	0.118
18	48579094	A	G	18	51052724	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	1.24444171534012E-4	0.118
18	48579094	A	T	18	51052724	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	1.24444171534012E-4	0.168
18	48579095	G	A	18	51052725	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	0.00213534205911748	0.07
18	48579095	G	C	18	51052725	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	0.00213534205911748	0.046
18	48579095	G	T	18	51052725	n	y	intronic	SMAD4	.	.	UTR3	ENSG00000141646;ENSG00000267699	.	.	0.00213534205911748	0.056
18	48579096	G	A	18	51052726	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.607+1G>A);ENSG00000267699(ENST00000590722:exon7:c.891+1G>A)	.	.	4.52932449848953E-5	0.002
18	48579096	G	C	18	51052726	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.607+1G>C);ENSG00000267699(ENST00000590722:exon7:c.891+1G>C)	.	.	4.52932449848953E-5	0.002
18	48579096	G	T	18	51052726	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.607+1G>T);ENSG00000267699(ENST00000590722:exon7:c.891+1G>T)	.	.	4.52932449848953E-5	0.002
18	48579097	T	A	18	51052727	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.607+2T>A);ENSG00000267699(ENST00000590722:exon7:c.891+2T>A)	.	.	3.60947442822834E-5	0.0
18	48579097	T	C	18	51052727	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.607+2T>C);ENSG00000267699(ENST00000590722:exon7:c.891+2T>C)	.	.	7.91761563972371E-5	0.0
18	48579097	T	G	18	51052727	n	y	intronic	SMAD4	.	.	splicing	ENSG00000141646(ENST00000452201:exon7:c.607+2T>G);ENSG00000267699(ENST00000590722:exon7:c.891+2T>G)	.	.	7.91761563972371E-5	0.0
18	48579098	A	C	18	51052728	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.16979026867853E-4	0.018
18	48579098	A	G	18	51052728	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.16979026867853E-4	0.018
18	48579098	A	T	18	51052728	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.16979026867853E-4	0.02
18	48579099	A	C	18	51052729	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.55791715209454E-5	0.098
18	48579099	A	G	18	51052729	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.55791715209454E-5	0.098
18	48579099	A	T	18	51052729	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.15631710620113E-5	0.052
18	48579100	T	A	18	51052730	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.16979026867853E-4	0.02
18	48579100	T	C	18	51052730	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.16979026867853E-4	0.018
18	48579100	T	G	18	51052730	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.16979026867853E-4	0.018
18	48579101	C	A	18	51052731	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00206254363979435	0.056
18	48579101	C	G	18	51052731	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00206254363979435	0.046
18	48579101	C	T	18	51052731	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00206254363979435	0.092
18	48579102	A	C	18	51052732	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.44332428323888E-5	0.006
18	48579102	A	G	18	51052732	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.44332428323888E-5	0.006
18	48579102	A	T	18	51052732	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.71542043621229E-5	0.01
18	48579103	C	A	18	51052733	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.25174383013797E-5	0.014
18	48579103	C	G	18	51052733	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.25174383013797E-5	0.014
18	48579103	C	T	18	51052733	n	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.25174383013797E-5	0.014
18	48581139	T	A	18	51054769	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.74188746132869	0.6
18	48581139	T	C	18	51054769	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00679354619875466	0.248
18	48581139	T	G	18	51054769	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.99980792144553	0.962
18	48581140	T	A	18	51054770	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.900755216040341	0.806
18	48581140	T	C	18	51054770	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0631936542595282	0.31
18	48581140	T	G	18	51054770	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.474603669286027	0.628
18	48581141	T	A	18	51054771	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.428564244866645	0.66
18	48581141	T	C	18	51054771	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00250029119873641	0.16
18	48581141	T	G	18	51054771	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.510293490240714	0.598
18	48581142	T	A	18	51054772	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.979175733657401	0.754
18	48581142	T	C	18	51054772	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00793435471330428	0.192
18	48581142	T	G	18	51054772	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.96242409931736	0.624
18	48581143	C	A	18	51054773	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00112274898113664	0.088
18	48581143	C	G	18	51054773	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00158180968753039	0.092
18	48581143	C	T	18	51054773	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.8852856658444E-5	0.008
18	48581144	T	A	18	51054774	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.027276943821276	0.116
18	48581144	T	C	18	51054774	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.28635935202535E-4	0.018
18	48581144	T	G	18	51054774	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0305456270671249	0.146
18	48581145	A	C	18	51054775	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.27219349862041E-5	0.0
18	48581145	A	G	18	51054775	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.12356558850198E-5	0.002
18	48581145	A	T	18	51054775	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.27219349862041E-5	0.0
18	48581146	T	A	18	51054776	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0664314205237047	0.41
18	48581146	T	C	18	51054776	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.72674929417505E-4	0.044
18	48581146	T	G	18	51054776	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.995316380357099	0.898
18	48581147	A	C	18	51054777	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	6.81112383627809E-5	0.058
18	48581147	A	G	18	51054777	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00177322271906718	0.046
18	48581147	A	T	18	51054777	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	7.05404422603047E-5	0.002
18	48581148	T	A	18	51054778	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00473960491185487	0.342
18	48581148	T	C	18	51054778	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.88983702120984E-5	0.042
18	48581148	T	G	18	51054778	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.997494186782163	0.722
18	48581149	A	C	18	51054779	y	y	splicing	SMAD4(NM_005359:exon5:c.455-2A>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.608-2A>C;ENST00000398417:exon5:c.455-2A>C;ENST00000342988:exon5:c.455-2A>C;ENST00000592186:exon4:c.455-2A>C;ENST00000588745:exon4:c.455-2A>C);ENSG00000267699(ENST00000590722:exon8:c.892-2A>C)	.	.	0.999980255680118	0.774
18	48581149	A	G	18	51054779	y	y	splicing	SMAD4(NM_005359:exon5:c.455-2A>G)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.608-2A>G;ENST00000398417:exon5:c.455-2A>G;ENST00000342988:exon5:c.455-2A>G;ENST00000592186:exon4:c.455-2A>G;ENST00000588745:exon4:c.455-2A>G);ENSG00000267699(ENST00000590722:exon8:c.892-2A>G)	.	.	0.999980255680118	0.774
18	48581149	A	T	18	51054779	y	y	splicing	SMAD4(NM_005359:exon5:c.455-2A>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.608-2A>T;ENST00000398417:exon5:c.455-2A>T;ENST00000342988:exon5:c.455-2A>T;ENST00000592186:exon4:c.455-2A>T;ENST00000588745:exon4:c.455-2A>T);ENSG00000267699(ENST00000590722:exon8:c.892-2A>T)	.	.	0.999962958601995	0.8
18	48581150	G	A	18	51054780	y	y	splicing	SMAD4(NM_005359:exon5:c.455-1G>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.608-1G>A;ENST00000398417:exon5:c.455-1G>A;ENST00000342988:exon5:c.455-1G>A;ENST00000592186:exon4:c.455-1G>A;ENST00000588745:exon4:c.455-1G>A);ENSG00000267699(ENST00000590722:exon8:c.892-1G>A)	.	.	0.999971412033808	0.868
18	48581150	G	C	18	51054780	y	y	splicing	SMAD4(NM_005359:exon5:c.455-1G>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.608-1G>C;ENST00000398417:exon5:c.455-1G>C;ENST00000342988:exon5:c.455-1G>C;ENST00000592186:exon4:c.455-1G>C;ENST00000588745:exon4:c.455-1G>C);ENSG00000267699(ENST00000590722:exon8:c.892-1G>C)	.	.	0.999971412033808	0.856
18	48581150	G	T	18	51054780	y	y	splicing	SMAD4(NM_005359:exon5:c.455-1G>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.608-1G>T;ENST00000398417:exon5:c.455-1G>T;ENST00000342988:exon5:c.455-1G>T;ENST00000592186:exon4:c.455-1G>T;ENST00000588745:exon4:c.455-1G>T);ENSG00000267699(ENST00000590722:exon8:c.892-1G>T)	.	.	0.999971412033808	0.85
18	48581151	C	A	18	51054781	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.C455A:p.A152D;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.C455A:p.A152D;ENSG00000141646:ENST00000398417:exon5:c.C455A:p.A152D;ENSG00000141646:ENST00000588745:exon4:c.C455A:p.A152D;ENSG00000141646:ENST00000592186:exon4:c.C455A:p.A152D;	0.00336341716307391	0.058
18	48581151	C	G	18	51054781	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.C455G:p.A152G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.C455G:p.A152G;ENSG00000141646:ENST00000398417:exon5:c.C455G:p.A152G;ENSG00000141646:ENST00000588745:exon4:c.C455G:p.A152G;ENSG00000141646:ENST00000592186:exon4:c.C455G:p.A152G;	0.00214695974899573	0.132
18	48581151	C	T	18	51054781	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.C455T:p.A152V;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.C455T:p.A152V;ENSG00000141646:ENST00000398417:exon5:c.C455T:p.A152V;ENSG00000141646:ENST00000588745:exon4:c.C455T:p.A152V;ENSG00000141646:ENST00000592186:exon4:c.C455T:p.A152V;	0.0181108117067337	0.336
18	48581152	T	A	18	51054782	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon5:c.T456A:p.A152A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.T456A:p.A152A;ENSG00000141646:ENST00000398417:exon5:c.T456A:p.A152A;ENSG00000141646:ENST00000588745:exon4:c.T456A:p.A152A;ENSG00000141646:ENST00000592186:exon4:c.T456A:p.A152A;	0.00529833140367245	0.064
18	48581152	T	C	18	51054782	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon5:c.T456C:p.A152A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.T456C:p.A152A;ENSG00000141646:ENST00000398417:exon5:c.T456C:p.A152A;ENSG00000141646:ENST00000588745:exon4:c.T456C:p.A152A;ENSG00000141646:ENST00000592186:exon4:c.T456C:p.A152A;	0.00185396629922359	0.08
18	48581152	T	G	18	51054782	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon5:c.T456G:p.A152A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.T456G:p.A152A;ENSG00000141646:ENST00000398417:exon5:c.T456G:p.A152A;ENSG00000141646:ENST00000588745:exon4:c.T456G:p.A152A;ENSG00000141646:ENST00000592186:exon4:c.T456G:p.A152A;	0.00196288489826946	0.04
18	48581361	C	A	18	51054991	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.C665A:p.T222K;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.C665A:p.T222K;ENSG00000141646:ENST00000398417:exon5:c.C665A:p.T222K;ENSG00000141646:ENST00000588745:exon4:c.C665A:p.T222K;ENSG00000141646:ENST00000592186:exon4:c.C665A:p.T222K;	0.125921291335476	0.292
18	48581361	C	G	18	51054991	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.C665G:p.T222R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.C665G:p.T222R;ENSG00000141646:ENST00000398417:exon5:c.C665G:p.T222R;ENSG00000141646:ENST00000588745:exon4:c.C665G:p.T222R;ENSG00000141646:ENST00000592186:exon4:c.C665G:p.T222R;	0.939347832350072	0.582
18	48581361	C	T	18	51054991	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.C665T:p.T222I;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.C665T:p.T222I;ENSG00000141646:ENST00000398417:exon5:c.C665T:p.T222I;ENSG00000141646:ENST00000588745:exon4:c.C665T:p.T222I;ENSG00000141646:ENST00000592186:exon4:c.C665T:p.T222I;	0.999656750887377	0.962
18	48581362	A	C	18	51054992	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon5:c.A666C:p.T222T;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.A666C:p.T222T;ENSG00000141646:ENST00000398417:exon5:c.A666C:p.T222T;ENSG00000141646:ENST00000588745:exon4:c.A666C:p.T222T;ENSG00000141646:ENST00000592186:exon4:c.A666C:p.T222T;	0.992423849940764	0.818
18	48581362	A	G	18	51054992	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon5:c.A666G:p.T222T;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.A666G:p.T222T;ENSG00000141646:ENST00000398417:exon5:c.A666G:p.T222T;ENSG00000141646:ENST00000588745:exon4:c.A666G:p.T222T;ENSG00000141646:ENST00000592186:exon4:c.A666G:p.T222T;	0.981843238203649	0.886
18	48581362	A	T	18	51054992	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon5:c.A666T:p.T222T;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.A666T:p.T222T;ENSG00000141646:ENST00000398417:exon5:c.A666T:p.T222T;ENSG00000141646:ENST00000588745:exon4:c.A666T:p.T222T;ENSG00000141646:ENST00000592186:exon4:c.A666T:p.T222T;	0.99905842906781	0.978
18	48581363	A	C	18	51054993	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.A667C:p.S223R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.A667C:p.S223R;ENSG00000141646:ENST00000398417:exon5:c.A667C:p.S223R;ENSG00000141646:ENST00000588745:exon4:c.A667C:p.T223P;ENSG00000141646:ENST00000592186:exon4:c.A667C:p.S223R;	0.776654988585147	0.784
18	48581363	A	G	18	51054993	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.A667G:p.S223G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.A667G:p.S223G;ENSG00000141646:ENST00000398417:exon5:c.A667G:p.S223G;ENSG00000141646:ENST00000588745:exon4:c.A667G:p.T223A;ENSG00000141646:ENST00000592186:exon4:c.A667G:p.S223G;	0.392299907751523	0.24
18	48581363	A	T	18	51054993	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon5:c.A667T:p.S223C;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon5:c.A667T:p.S223C;ENSG00000141646:ENST00000398417:exon5:c.A667T:p.S223C;ENSG00000141646:ENST00000588745:exon4:c.A667T:p.T223S;ENSG00000141646:ENST00000592186:exon4:c.A667T:p.S223C;	0.913497733223907	0.774
18	48581364	G	A	18	51054994	y	y	splicing	SMAD4(NM_005359:exon5:c.667+1G>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.820+1G>A;ENST00000398417:exon5:c.667+1G>A;ENST00000342988:exon5:c.667+1G>A;ENST00000592186:exon4:c.667+1G>A;ENST00000588745:exon4:c.667+1G>A);ENSG00000267699(ENST00000590722:exon8:c.1104+1G>A)	.	.	0.999989072007339	0.934
18	48581364	G	C	18	51054994	y	y	splicing	SMAD4(NM_005359:exon5:c.667+1G>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.820+1G>C;ENST00000398417:exon5:c.667+1G>C;ENST00000342988:exon5:c.667+1G>C;ENST00000592186:exon4:c.667+1G>C;ENST00000588745:exon4:c.667+1G>C);ENSG00000267699(ENST00000590722:exon8:c.1104+1G>C)	.	.	0.999989072007339	0.934
18	48581364	G	T	18	51054994	y	y	splicing	SMAD4(NM_005359:exon5:c.667+1G>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.820+1G>T;ENST00000398417:exon5:c.667+1G>T;ENST00000342988:exon5:c.667+1G>T;ENST00000592186:exon4:c.667+1G>T;ENST00000588745:exon4:c.667+1G>T);ENSG00000267699(ENST00000590722:exon8:c.1104+1G>T)	.	.	0.999989072007339	0.934
18	48581365	T	A	18	51054995	y	y	splicing	SMAD4(NM_005359:exon5:c.667+2T>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.820+2T>A;ENST00000398417:exon5:c.667+2T>A;ENST00000342988:exon5:c.667+2T>A;ENST00000592186:exon4:c.667+2T>A;ENST00000588745:exon4:c.667+2T>A);ENSG00000267699(ENST00000590722:exon8:c.1104+2T>A)	.	.	0.999988247793601	0.93
18	48581365	T	C	18	51054995	y	y	splicing	SMAD4(NM_005359:exon5:c.667+2T>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.820+2T>C;ENST00000398417:exon5:c.667+2T>C;ENST00000342988:exon5:c.667+2T>C;ENST00000592186:exon4:c.667+2T>C;ENST00000588745:exon4:c.667+2T>C);ENSG00000267699(ENST00000590722:exon8:c.1104+2T>C)	.	.	0.999956260549993	0.87
18	48581365	T	G	18	51054995	y	y	splicing	SMAD4(NM_005359:exon5:c.667+2T>G)	.	.	splicing	ENSG00000141646(ENST00000452201:exon8:c.820+2T>G;ENST00000398417:exon5:c.667+2T>G;ENST00000342988:exon5:c.667+2T>G;ENST00000592186:exon4:c.667+2T>G;ENST00000588745:exon4:c.667+2T>G);ENSG00000267699(ENST00000590722:exon8:c.1104+2T>G)	.	.	0.999988247793601	0.93
18	48581366	G	A	18	51054996	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	3.28780030901304E-4	0.0
18	48581366	G	C	18	51054996	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998378849995613	0.856
18	48581366	G	T	18	51054996	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.968355106012445	0.782
18	48581367	A	C	18	51054997	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.997047720004836	0.942
18	48581367	A	G	18	51054997	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999140244421918	0.984
18	48581367	A	T	18	51054997	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999069467353901	0.94
18	48581368	G	A	18	51054998	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999902501436935	0.956
18	48581368	G	C	18	51054998	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999930455717404	0.982
18	48581368	G	T	18	51054998	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999972798976155	0.978
18	48581369	T	A	18	51054999	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.999289402050124	0.914
18	48581369	T	C	18	51054999	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.996905547087589	0.92
18	48581369	T	G	18	51054999	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998125498481741	0.926
18	48581370	T	A	18	51055000	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00412468449731059	0.008
18	48581370	T	C	18	51055000	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00404578434563527	0.004
18	48581370	T	G	18	51055000	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00404578434563527	0.008
18	48581371	C	A	18	51055001	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.44053392659126E-4	0.004
18	48581371	C	G	18	51055001	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.04801977262266E-5	0.004
18	48581371	C	T	18	51055001	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.56609027836031E-5	0.0
18	48584483	T	A	18	51058113	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.395432492681148	0.508
18	48584483	T	C	18	51058113	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0221142421804602	0.16
18	48584483	T	G	18	51058113	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.162158356610264	0.41
18	48584484	T	A	18	51058114	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.998225803810072	0.908
18	48584484	T	C	18	51058114	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.78704193957006E-4	0.04
18	48584484	T	G	18	51058114	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00164897515209983	0.118
18	48584485	G	A	18	51058115	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	8.35492632084641E-4	0.038
18	48584485	G	C	18	51058115	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.58880157018891E-5	0.0
18	48584485	G	T	18	51058115	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.90802354098453E-5	0.0
18	48584486	T	A	18	51058116	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.906933351571181	0.606
18	48584486	T	C	18	51058116	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.510495360504652	0.504
18	48584486	T	G	18	51058116	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.836049399554849	0.61
18	48584487	T	A	18	51058117	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00701417465062464	0.086
18	48584487	T	C	18	51058117	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	2.45824184152347E-4	0.006
18	48584487	T	G	18	51058117	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	9.66804881975754E-4	0.046
18	48584488	C	A	18	51058118	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00103836370038776	0.136
18	48584488	C	G	18	51058118	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	4.87500011546011E-4	0.05
18	48584488	C	T	18	51058118	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.36511060498811E-5	0.004
18	48584489	C	A	18	51058119	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00800537115248498	0.24
18	48584489	C	G	18	51058119	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00550703010377575	0.228
18	48584489	C	T	18	51058119	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	5.58761534548769E-4	0.05
18	48584490	T	A	18	51058120	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0692861156140603	0.344
18	48584490	T	C	18	51058120	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00463793281527927	0.056
18	48584490	T	G	18	51058120	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.0568742803093547	0.34
18	48584491	C	A	18	51058121	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00230951000634807	0.05
18	48584491	C	G	18	51058121	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00350842487961396	0.076
18	48584491	C	T	18	51058121	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.00258178864948251	0.064
18	48584492	T	A	18	51058122	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.218934801515061	0.308
18	48584492	T	C	18	51058122	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	1.65236318545612E-4	0.02
18	48584492	T	G	18	51058122	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646;ENSG00000267699	.	.	0.995965586264373	0.706
18	48584493	A	C	18	51058123	y	y	splicing	SMAD4(NM_005359:exon6:c.668-2A>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon9:c.821-2A>C;ENST00000398417:exon6:c.668-2A>C;ENST00000342988:exon6:c.668-2A>C;ENST00000592186:exon5:c.668-2A>C);ENSG00000267699(ENST00000590722:exon9:c.1105-2A>C)	.	.	0.999988247793601	0.928
18	48584493	A	G	18	51058123	y	y	splicing	SMAD4(NM_005359:exon6:c.668-2A>G)	.	.	splicing	ENSG00000141646(ENST00000452201:exon9:c.821-2A>G;ENST00000398417:exon6:c.668-2A>G;ENST00000342988:exon6:c.668-2A>G;ENST00000592186:exon5:c.668-2A>G);ENSG00000267699(ENST00000590722:exon9:c.1105-2A>G)	.	.	0.999988247793601	0.928
18	48584493	A	T	18	51058123	y	y	splicing	SMAD4(NM_005359:exon6:c.668-2A>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon9:c.821-2A>T;ENST00000398417:exon6:c.668-2A>T;ENST00000342988:exon6:c.668-2A>T;ENST00000592186:exon5:c.668-2A>T);ENSG00000267699(ENST00000590722:exon9:c.1105-2A>T)	.	.	0.999988247793601	0.928
18	48584494	G	A	18	51058124	y	y	splicing	SMAD4(NM_005359:exon6:c.668-1G>A)	.	.	splicing	ENSG00000141646(ENST00000452201:exon9:c.821-1G>A;ENST00000398417:exon6:c.668-1G>A;ENST00000342988:exon6:c.668-1G>A;ENST00000592186:exon5:c.668-1G>A);ENSG00000267699(ENST00000590722:exon9:c.1105-1G>A)	.	.	0.999990361384395	0.936
18	48584494	G	C	18	51058124	y	y	splicing	SMAD4(NM_005359:exon6:c.668-1G>C)	.	.	splicing	ENSG00000141646(ENST00000452201:exon9:c.821-1G>C;ENST00000398417:exon6:c.668-1G>C;ENST00000342988:exon6:c.668-1G>C;ENST00000592186:exon5:c.668-1G>C);ENSG00000267699(ENST00000590722:exon9:c.1105-1G>C)	.	.	0.999990361384395	0.936
18	48584494	G	T	18	51058124	y	y	splicing	SMAD4(NM_005359:exon6:c.668-1G>T)	.	.	splicing	ENSG00000141646(ENST00000452201:exon9:c.821-1G>T;ENST00000398417:exon6:c.668-1G>T;ENST00000342988:exon6:c.668-1G>T;ENST00000592186:exon5:c.668-1G>T);ENSG00000267699(ENST00000590722:exon9:c.1105-1G>T)	.	.	0.999990361384395	0.936
18	48584495	G	A	18	51058125	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.G668A:p.S223N;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.G668A:p.S223N;ENSG00000141646:ENST00000398417:exon6:c.G668A:p.S223N;ENSG00000141646:ENST00000592186:exon5:c.G668A:p.S223N;	0.987790373528935	0.708
18	48584495	G	C	18	51058125	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.G668C:p.S223T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.G668C:p.S223T;ENSG00000141646:ENST00000398417:exon6:c.G668C:p.S223T;ENSG00000141646:ENST00000592186:exon5:c.G668C:p.S223T;	0.992077164242396	0.822
18	48584495	G	T	18	51058125	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.G668T:p.S223I;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.G668T:p.S223I;ENSG00000141646:ENST00000398417:exon6:c.G668T:p.S223I;ENSG00000141646:ENST00000592186:exon5:c.G668T:p.S223I;	0.999602093462423	0.944
18	48584496	T	A	18	51058126	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.T669A:p.S223R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.T669A:p.S223R;ENSG00000141646:ENST00000398417:exon6:c.T669A:p.S223R;ENSG00000141646:ENST00000592186:exon5:c.T669A:p.S223R;	0.114244216838233	0.35
18	48584496	T	C	18	51058126	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon6:c.T669C:p.S223S;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.T669C:p.S223S;ENSG00000141646:ENST00000398417:exon6:c.T669C:p.S223S;ENSG00000141646:ENST00000592186:exon5:c.T669C:p.S223S;	0.0101342446889712	0.114
18	48584496	T	G	18	51058126	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.T669G:p.S223R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.T669G:p.S223R;ENSG00000141646:ENST00000398417:exon6:c.T669G:p.S223R;ENSG00000141646:ENST00000592186:exon5:c.T669G:p.S223R;	0.0279953615872204	0.214
18	48584612	A	C	18	51058242	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.A785C:p.H262P;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.A785C:p.H262P;ENSG00000141646:ENST00000398417:exon6:c.A785C:p.H262P;ENSG00000141646:ENST00000592186:exon5:c.A785C:p.H262P;	7.24223713737057E-4	0.066
18	48584612	A	G	18	51058242	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.A785G:p.H262R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.A785G:p.H262R;ENSG00000141646:ENST00000398417:exon6:c.A785G:p.H262R;ENSG00000141646:ENST00000592186:exon5:c.A785G:p.H262R;	0.0275230554250206	0.238
18	48584612	A	T	18	51058242	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.A785T:p.H262L;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.A785T:p.H262L;ENSG00000141646:ENST00000398417:exon6:c.A785T:p.H262L;ENSG00000141646:ENST00000592186:exon5:c.A785T:p.H262L;	0.8353864372906	0.566
18	48584613	T	A	18	51058243	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.T786A:p.H262Q;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.T786A:p.H262Q;ENSG00000141646:ENST00000398417:exon6:c.T786A:p.H262Q;ENSG00000141646:ENST00000592186:exon5:c.T786A:p.H262Q;	7.49051276719434E-4	0.19
18	48584613	T	C	18	51058243	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon6:c.T786C:p.H262H;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.T786C:p.H262H;ENSG00000141646:ENST00000398417:exon6:c.T786C:p.H262H;ENSG00000141646:ENST00000592186:exon5:c.T786C:p.H262H;	0.0315794935373978	0.198
18	48584613	T	G	18	51058243	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.T786G:p.H262Q;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.T786G:p.H262Q;ENSG00000141646:ENST00000398417:exon6:c.T786G:p.H262Q;ENSG00000141646:ENST00000592186:exon5:c.T786G:p.H262Q;	0.00400504761289456	0.19
18	48584614	A	C	18	51058244	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.A787C:p.N263H;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.A787C:p.N263H;ENSG00000141646:ENST00000398417:exon6:c.A787C:p.N263H;ENSG00000141646:ENST00000592186:exon5:c.A787C:p.N263H;	0.623963239158303	0.516
18	48584614	A	G	18	51058244	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.A787G:p.N263D;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.A787G:p.N263D;ENSG00000141646:ENST00000398417:exon6:c.A787G:p.N263D;ENSG00000141646:ENST00000592186:exon5:c.A787G:p.N263D;	0.0111861842204066	0.124
18	48584614	A	T	18	51058244	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon6:c.A787T:p.N263Y;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon6:c.A787T:p.N263Y;ENSG00000141646:ENST00000398417:exon6:c.A787T:p.N263Y;ENSG00000141646:ENST00000592186:exon5:c.A787T:p.N263Y;	0.949187695766996	0.638
18	48584615	G	A	18	51058245	y	y	splicing	SMAD4(NM_005359:exon6:c.787+1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon6:c.787+1G>A;ENST00000342988:exon6:c.787+1G>A;ENST00000592186:exon5:c.787+1G>A)	.	.	0.999990361384395	0.946
18	48584615	G	C	18	51058245	y	y	splicing	SMAD4(NM_005359:exon6:c.787+1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon6:c.787+1G>C;ENST00000342988:exon6:c.787+1G>C;ENST00000592186:exon5:c.787+1G>C)	.	.	0.999990361384395	0.946
18	48584615	G	T	18	51058245	y	y	splicing	SMAD4(NM_005359:exon6:c.787+1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon6:c.787+1G>T;ENST00000342988:exon6:c.787+1G>T;ENST00000592186:exon5:c.787+1G>T)	.	.	0.999990361384395	0.946
18	48584616	T	A	18	51058246	y	y	splicing	SMAD4(NM_005359:exon6:c.787+2T>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon6:c.787+2T>A;ENST00000342988:exon6:c.787+2T>A;ENST00000592186:exon5:c.787+2T>A)	.	.	0.999988247793601	0.946
18	48584616	T	C	18	51058246	y	y	splicing	SMAD4(NM_005359:exon6:c.787+2T>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon6:c.787+2T>C;ENST00000342988:exon6:c.787+2T>C;ENST00000592186:exon5:c.787+2T>C)	.	.	0.99593384708436	0.716
18	48584616	T	G	18	51058246	y	y	splicing	SMAD4(NM_005359:exon6:c.787+2T>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon6:c.787+2T>G;ENST00000342988:exon6:c.787+2T>G;ENST00000592186:exon5:c.787+2T>G)	.	.	0.999988247793601	0.946
18	48584617	A	C	18	51058247	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.99989557802456	0.98
18	48584617	A	G	18	51058247	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999936279704374	0.964
18	48584617	A	T	18	51058247	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999953865944935	0.98
18	48584618	T	A	18	51058248	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.09791853878466E-4	0.068
18	48584618	T	C	18	51058248	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0198057133301625	0.262
18	48584618	T	G	18	51058248	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	8.61527425379785E-4	0.148
18	48584619	G	A	18	51058249	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999974068530082	0.998
18	48584619	G	C	18	51058249	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999966463247542	0.976
18	48584619	G	T	18	51058249	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999974641048091	0.978
18	48584620	T	A	18	51058250	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999628262915615	0.888
18	48584620	T	C	18	51058250	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.998765073450469	0.938
18	48584620	T	G	18	51058250	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999525636806022	0.92
18	48584621	A	C	18	51058251	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.44266612319479E-4	0.034
18	48584621	A	G	18	51058251	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00124893442764147	0.252
18	48584621	A	T	18	51058251	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00200640784656054	0.232
18	48584622	C	A	18	51058252	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00512260501617688	0.112
18	48584622	C	G	18	51058252	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00380856314480893	0.134
18	48584622	C	T	18	51058252	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00222440553935988	0.024
18	48584698	C	A	18	51058328	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.983919481963933	0.658
18	48584698	C	G	18	51058328	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.982598386197491	0.69
18	48584698	C	T	18	51058328	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.956730122207254	0.66
18	48584699	T	A	18	51058329	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999857220848876	0.966
18	48584699	T	C	18	51058329	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.996972811514578	0.824
18	48584699	T	G	18	51058329	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999839326000498	0.96
18	48584700	T	A	18	51058330	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999746387854557	0.942
18	48584700	T	C	18	51058330	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.963719573636926	0.556
18	48584700	T	G	18	51058330	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999567810445576	0.946
18	48584701	A	C	18	51058331	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0324526374696724	0.334
18	48584701	A	G	18	51058331	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.317808661379472	0.342
18	48584701	A	T	18	51058331	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0631543945724236	0.386
18	48584702	A	C	18	51058332	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00123587817123731	0.024
18	48584702	A	G	18	51058332	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.998833217752928	0.89
18	48584702	A	T	18	51058332	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00114229427109735	0.018
18	48584703	T	A	18	51058333	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.805672537109751	0.59
18	48584703	T	C	18	51058333	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00233889920981983	0.128
18	48584703	T	G	18	51058333	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999939799886664	0.97
18	48584704	T	A	18	51058334	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.984296297670727	0.834
18	48584704	T	C	18	51058334	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0177215488059935	0.226
18	48584704	T	G	18	51058334	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.996806058145862	0.854
18	48584705	T	A	18	51058335	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.998934785573164	0.932
18	48584705	T	C	18	51058335	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.220001684464082	0.376
18	48584705	T	G	18	51058335	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.997271589026065	0.924
18	48584706	T	A	18	51058336	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00310551011766824	0.088
18	48584706	T	C	18	51058336	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.39800484825585E-4	0.078
18	48584706	T	G	18	51058336	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00336705016342642	0.096
18	48584707	T	A	18	51058337	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.976530790192892	0.704
18	48584707	T	C	18	51058337	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.83052031412897E-4	0.076
18	48584707	T	G	18	51058337	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.998448658460142	0.906
18	48584708	A	C	18	51058338	y	y	splicing	SMAD4(NM_005359:exon7:c.788-2A>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.788-2A>C;ENST00000342988:exon7:c.788-2A>C;ENST00000592186:exon6:c.788-2A>C)	.	.	0.999986741007567	0.944
18	48584708	A	G	18	51058338	y	y	splicing	SMAD4(NM_005359:exon7:c.788-2A>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.788-2A>G;ENST00000342988:exon7:c.788-2A>G;ENST00000592186:exon6:c.788-2A>G)	.	.	0.999986741007567	0.944
18	48584708	A	T	18	51058338	y	y	splicing	SMAD4(NM_005359:exon7:c.788-2A>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.788-2A>T;ENST00000342988:exon7:c.788-2A>T;ENST00000592186:exon6:c.788-2A>T)	.	.	0.999986741007567	0.944
18	48584709	G	A	18	51058339	y	y	splicing	SMAD4(NM_005359:exon7:c.788-1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.788-1G>A;ENST00000342988:exon7:c.788-1G>A;ENST00000592186:exon6:c.788-1G>A)	.	.	0.999989125585301	0.944
18	48584709	G	C	18	51058339	y	y	splicing	SMAD4(NM_005359:exon7:c.788-1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.788-1G>C;ENST00000342988:exon7:c.788-1G>C;ENST00000592186:exon6:c.788-1G>C)	.	.	0.999989125585301	0.944
18	48584709	G	T	18	51058339	y	y	splicing	SMAD4(NM_005359:exon7:c.788-1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.788-1G>T;ENST00000342988:exon7:c.788-1G>T;ENST00000592186:exon6:c.788-1G>T)	.	.	0.999989125585301	0.944
18	48584710	A	C	18	51058340	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.A788C:p.N263T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.A788C:p.N263T;ENSG00000141646:ENST00000398417:exon7:c.A788C:p.N263T;ENSG00000141646:ENST00000592186:exon6:c.A788C:p.N263T;	0.0999631858420253	0.33
18	48584710	A	G	18	51058340	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.A788G:p.N263S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.A788G:p.N263S;ENSG00000141646:ENST00000398417:exon7:c.A788G:p.N263S;ENSG00000141646:ENST00000592186:exon6:c.A788G:p.N263S;	4.62773553055978E-4	0.02
18	48584710	A	T	18	51058340	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.A788T:p.N263I;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.A788T:p.N263I;ENSG00000141646:ENST00000398417:exon7:c.A788T:p.N263I;ENSG00000141646:ENST00000592186:exon6:c.A788T:p.N263I;	0.292899095403831	0.498
18	48584711	C	A	18	51058341	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.C789A:p.N263K;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.C789A:p.N263K;ENSG00000141646:ENST00000398417:exon7:c.C789A:p.N263K;ENSG00000141646:ENST00000592186:exon6:c.C789A:p.N263K;	0.0118414739226191	0.09
18	48584711	C	G	18	51058341	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.C789G:p.N263K;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.C789G:p.N263K;ENSG00000141646:ENST00000398417:exon7:c.C789G:p.N263K;ENSG00000141646:ENST00000592186:exon6:c.C789G:p.N263K;	0.020944266847253	0.098
18	48584711	C	T	18	51058341	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon7:c.C789T:p.N263N;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.C789T:p.N263N;ENSG00000141646:ENST00000398417:exon7:c.C789T:p.N263N;ENSG00000141646:ENST00000592186:exon6:c.C789T:p.N263N;	0.00683554035630665	0.102
18	48584824	A	C	18	51058454	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.A902C:p.Y301S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.A902C:p.Y301S;ENSG00000141646:ENST00000398417:exon7:c.A902C:p.Y301S;ENSG00000141646:ENST00000592186:exon6:c.A902C:p.Y301S;	0.893620089680653	0.576
18	48584824	A	G	18	51058454	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.A902G:p.Y301C;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.A902G:p.Y301C;ENSG00000141646:ENST00000398417:exon7:c.A902G:p.Y301C;ENSG00000141646:ENST00000592186:exon6:c.A902G:p.Y301C;	0.788619729956665	0.522
18	48584824	A	T	18	51058454	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.A902T:p.Y301F;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.A902T:p.Y301F;ENSG00000141646:ENST00000398417:exon7:c.A902T:p.Y301F;ENSG00000141646:ENST00000592186:exon6:c.A902T:p.Y301F;	0.821799309710379	0.65
18	48584825	C	A	18	51058455	y	y	exonic	SMAD4	stopgain SNV	SMAD4:NM_005359:exon7:c.C903A:p.Y301X;	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000342988:exon7:c.C903A:p.Y301X;ENSG00000141646:ENST00000398417:exon7:c.C903A:p.Y301X;ENSG00000141646:ENST00000592186:exon6:c.C903A:p.Y301X;	0.978380249305597	0.748
18	48584825	C	G	18	51058455	y	y	exonic	SMAD4	stopgain SNV	SMAD4:NM_005359:exon7:c.C903G:p.Y301X;	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000342988:exon7:c.C903G:p.Y301X;ENSG00000141646:ENST00000398417:exon7:c.C903G:p.Y301X;ENSG00000141646:ENST00000592186:exon6:c.C903G:p.Y301X;	0.988724450097236	0.968
18	48584825	C	T	18	51058455	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon7:c.C903T:p.Y301Y;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.C903T:p.Y301Y;ENSG00000141646:ENST00000398417:exon7:c.C903T:p.Y301Y;ENSG00000141646:ENST00000592186:exon6:c.C903T:p.Y301Y;	0.0870294722041687	0.25
18	48584826	T	A	18	51058456	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.T904A:p.W302R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.T904A:p.W302R;ENSG00000141646:ENST00000398417:exon7:c.T904A:p.W302R;ENSG00000141646:ENST00000592186:exon6:c.T904A:p.W302R;	0.890286434595927	0.672
18	48584826	T	C	18	51058456	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.T904C:p.W302R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.T904C:p.W302R;ENSG00000141646:ENST00000398417:exon7:c.T904C:p.W302R;ENSG00000141646:ENST00000592186:exon6:c.T904C:p.W302R;	0.95943192916962	0.81
18	48584826	T	G	18	51058456	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon7:c.T904G:p.W302G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon7:c.T904G:p.W302G;ENSG00000141646:ENST00000398417:exon7:c.T904G:p.W302G;ENSG00000141646:ENST00000592186:exon6:c.T904G:p.W302G;	0.20393345461037	0.176
18	48584827	G	A	18	51058457	y	y	splicing	SMAD4(NM_005359:exon7:c.904+1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.904+1G>A;ENST00000342988:exon7:c.904+1G>A;ENST00000592186:exon6:c.904+1G>A)	.	.	0.999990361384395	0.938
18	48584827	G	C	18	51058457	y	y	splicing	SMAD4(NM_005359:exon7:c.904+1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.904+1G>C;ENST00000342988:exon7:c.904+1G>C;ENST00000592186:exon6:c.904+1G>C)	.	.	0.999990361384395	0.938
18	48584827	G	T	18	51058457	y	y	splicing	SMAD4(NM_005359:exon7:c.904+1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.904+1G>T;ENST00000342988:exon7:c.904+1G>T;ENST00000592186:exon6:c.904+1G>T)	.	.	0.999990361384395	0.938
18	48584828	T	A	18	51058458	y	y	splicing	SMAD4(NM_005359:exon7:c.904+2T>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.904+2T>A;ENST00000342988:exon7:c.904+2T>A;ENST00000592186:exon6:c.904+2T>A)	.	.	0.999988247793601	0.932
18	48584828	T	C	18	51058458	y	y	splicing	SMAD4(NM_005359:exon7:c.904+2T>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.904+2T>C;ENST00000342988:exon7:c.904+2T>C;ENST00000592186:exon6:c.904+2T>C)	.	.	0.999934643991786	0.866
18	48584828	T	G	18	51058458	y	y	splicing	SMAD4(NM_005359:exon7:c.904+2T>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon7:c.904+2T>G;ENST00000342988:exon7:c.904+2T>G;ENST00000592186:exon6:c.904+2T>G)	.	.	0.999988247793601	0.932
18	48584829	A	C	18	51058459	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999888989922471	0.904
18	48584829	A	G	18	51058459	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.740704875248707	0.522
18	48584829	A	T	18	51058459	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999892731333754	0.95
18	48584830	A	C	18	51058460	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999735820399787	0.944
18	48584830	A	G	18	51058460	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999920604379398	0.96
18	48584830	A	T	18	51058460	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999324025573833	0.9
18	48584831	G	A	18	51058461	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.99995987877705	0.988
18	48584831	G	C	18	51058461	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999973051612095	0.978
18	48584831	G	T	18	51058461	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999962436583952	0.99
18	48584832	C	A	18	51058462	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0310785724026234	0.19
18	48584832	C	G	18	51058462	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00214068165702813	0.13
18	48584832	C	T	18	51058462	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00368102518114896	0.048
18	48584833	T	A	18	51058463	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00972479982645419	0.046
18	48584833	T	C	18	51058463	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00843797451397653	0.034
18	48584833	T	G	18	51058463	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00843797451397653	0.04
18	48584834	C	A	18	51058464	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0180220913487645	0.208
18	48584834	C	G	18	51058464	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0147584016073065	0.098
18	48584834	C	T	18	51058464	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0237544030330514	0.114
18	48586224	T	A	18	51059854	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.934227801645367	0.63
18	48586224	T	C	18	51059854	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.223096117678875	0.45
18	48586224	T	G	18	51059854	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.927691234210717	0.608
18	48586225	C	A	18	51059855	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0109817161633169	0.072
18	48586225	C	G	18	51059855	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	7.41600806117239E-4	0.062
18	48586225	C	T	18	51059855	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00111871012583218	0.058
18	48586226	T	A	18	51059856	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.839553436218209	0.52
18	48586226	T	C	18	51059856	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.14887463085228	0.344
18	48586226	T	G	18	51059856	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.788880975551449	0.44
18	48586227	T	A	18	51059857	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.84438898944857	0.598
18	48586227	T	C	18	51059857	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.230589104554561	0.44
18	48586227	T	G	18	51059857	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.648352791156807	0.52
18	48586228	T	A	18	51059858	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0110104856643558	0.106
18	48586228	T	C	18	51059858	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00223521241069991	0.042
18	48586228	T	G	18	51059858	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00277946094503967	0.078
18	48586229	T	A	18	51059859	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0213040123380305	0.194
18	48586229	T	C	18	51059859	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00178273982631003	0.028
18	48586229	T	G	18	51059859	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00792903562983814	0.122
18	48586230	C	A	18	51059860	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0416606894997849	0.364
18	48586230	C	G	18	51059860	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0585776623291997	0.376
18	48586230	C	T	18	51059860	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	9.40771446444966E-4	0.026
18	48586231	T	A	18	51059861	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0627491347224156	0.296
18	48586231	T	C	18	51059861	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00143704445244387	0.026
18	48586231	T	G	18	51059861	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0800422705338031	0.418
18	48586232	T	A	18	51059862	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00127473947616781	0.038
18	48586232	T	C	18	51059862	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.76551014553105E-4	0.002
18	48586232	T	G	18	51059862	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	7.55299377887303E-4	0.006
18	48586233	T	A	18	51059863	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0558981965788362	0.342
18	48586233	T	C	18	51059863	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	8.88912091748933E-5	0.02
18	48586233	T	G	18	51059863	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.99722468363353	0.638
18	48586234	A	C	18	51059864	y	y	splicing	SMAD4(NM_005359:exon8:c.905-2A>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.905-2A>C;ENST00000342988:exon8:c.905-2A>C;ENST00000592186:exon7:c.905-2A>C)	.	.	0.999988247793601	0.926
18	48586234	A	G	18	51059864	y	y	splicing	SMAD4(NM_005359:exon8:c.905-2A>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.905-2A>G;ENST00000342988:exon8:c.905-2A>G;ENST00000592186:exon7:c.905-2A>G)	.	.	0.999988247793601	0.926
18	48586234	A	T	18	51059864	y	y	splicing	SMAD4(NM_005359:exon8:c.905-2A>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.905-2A>T;ENST00000342988:exon8:c.905-2A>T;ENST00000592186:exon7:c.905-2A>T)	.	.	0.999988247793601	0.926
18	48586235	G	A	18	51059865	y	y	splicing	SMAD4(NM_005359:exon8:c.905-1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.905-1G>A;ENST00000342988:exon8:c.905-1G>A;ENST00000592186:exon7:c.905-1G>A)	.	.	0.999986675681007	0.932
18	48586235	G	C	18	51059865	y	y	splicing	SMAD4(NM_005359:exon8:c.905-1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.905-1G>C;ENST00000342988:exon8:c.905-1G>C;ENST00000592186:exon7:c.905-1G>C)	.	.	0.999986675681007	0.934
18	48586235	G	T	18	51059865	y	y	splicing	SMAD4(NM_005359:exon8:c.905-1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.905-1G>T;ENST00000342988:exon8:c.905-1G>T;ENST00000592186:exon7:c.905-1G>T)	.	.	0.999986675681007	0.922
18	48586236	G	A	18	51059866	y	y	exonic	SMAD4	stopgain SNV	SMAD4:NM_005359:exon8:c.G905A:p.W302X;	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000342988:exon8:c.G905A:p.W302X;ENSG00000141646:ENST00000398417:exon8:c.G905A:p.W302X;ENSG00000141646:ENST00000592186:exon7:c.G905A:p.W302X;	0.999244641238627	0.938
18	48586236	G	C	18	51059866	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.G905C:p.W302S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.G905C:p.W302S;ENSG00000141646:ENST00000398417:exon8:c.G905C:p.W302S;ENSG00000141646:ENST00000592186:exon7:c.G905C:p.W302S;	0.965322535650584	0.718
18	48586236	G	T	18	51059866	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.G905T:p.W302L;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.G905T:p.W302L;ENSG00000141646:ENST00000398417:exon8:c.G905T:p.W302L;ENSG00000141646:ENST00000592186:exon7:c.G905T:p.W302L;	0.999334284106928	0.938
18	48586237	G	A	18	51059867	y	y	exonic	SMAD4	stopgain SNV	SMAD4:NM_005359:exon8:c.G906A:p.W302X;	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000342988:exon8:c.G906A:p.W302X;ENSG00000141646:ENST00000398417:exon8:c.G906A:p.W302X;ENSG00000141646:ENST00000592186:exon7:c.G906A:p.W302X;	0.982021626513349	0.898
18	48586237	G	C	18	51059867	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.G906C:p.W302C;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.G906C:p.W302C;ENSG00000141646:ENST00000398417:exon8:c.G906C:p.W302C;ENSG00000141646:ENST00000592186:exon7:c.G906C:p.W302C;	0.976111657519426	0.788
18	48586237	G	T	18	51059867	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.G906T:p.W302C;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.G906T:p.W302C;ENSG00000141646:ENST00000398417:exon8:c.G906T:p.W302C;ENSG00000141646:ENST00000592186:exon7:c.G906T:p.W302C;	0.978966132372237	0.812
18	48586284	C	A	18	51059914	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.C953A:p.P318H;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.C953A:p.P318H;ENSG00000141646:ENST00000398417:exon8:c.C953A:p.P318H;ENSG00000141646:ENST00000592186:exon7:c.C953A:p.P318H;	0.919421759665194	0.778
18	48586284	C	G	18	51059914	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.C953G:p.P318R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.C953G:p.P318R;ENSG00000141646:ENST00000398417:exon8:c.C953G:p.P318R;ENSG00000141646:ENST00000592186:exon7:c.C953G:p.P318R;	0.820079599524414	0.63
18	48586284	C	T	18	51059914	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.C953T:p.P318L;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.C953T:p.P318L;ENSG00000141646:ENST00000398417:exon8:c.C953T:p.P318L;ENSG00000141646:ENST00000592186:exon7:c.C953T:p.P318L;	0.991082660757971	0.6
18	48586285	T	A	18	51059915	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon8:c.T954A:p.P318P;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.T954A:p.P318P;ENSG00000141646:ENST00000398417:exon8:c.T954A:p.P318P;ENSG00000141646:ENST00000592186:exon7:c.T954A:p.P318P;	2.63292962924254E-4	0.114
18	48586285	T	C	18	51059915	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon8:c.T954C:p.P318P;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.T954C:p.P318P;ENSG00000141646:ENST00000398417:exon8:c.T954C:p.P318P;ENSG00000141646:ENST00000592186:exon7:c.T954C:p.P318P;	5.31448696962697E-4	0.024
18	48586285	T	G	18	51059915	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon8:c.T954G:p.P318P;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.T954G:p.P318P;ENSG00000141646:ENST00000398417:exon8:c.T954G:p.P318P;ENSG00000141646:ENST00000592186:exon7:c.T954G:p.P318P;	6.25341549222274E-4	0.054
18	48586286	G	A	18	51059916	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.G955A:p.A319T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.G955A:p.A319T;ENSG00000141646:ENST00000398417:exon8:c.G955A:p.A319T;ENSG00000141646:ENST00000592186:exon7:c.G955A:p.G319S;	0.999418621077695	0.858
18	48586286	G	C	18	51059916	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.G955C:p.A319P;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.G955C:p.A319P;ENSG00000141646:ENST00000398417:exon8:c.G955C:p.A319P;ENSG00000141646:ENST00000592186:exon7:c.G955C:p.G319R;	0.966811423609108	0.696
18	48586286	G	T	18	51059916	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon8:c.G955T:p.A319S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon8:c.G955T:p.A319S;ENSG00000141646:ENST00000398417:exon8:c.G955T:p.A319S;ENSG00000141646:ENST00000592186:exon7:c.G955T:p.G319C;	0.998169992187781	0.958
18	48586287	G	A	18	51059917	y	y	splicing	SMAD4(NM_005359:exon8:c.955+1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.955+1G>A;ENST00000342988:exon8:c.955+1G>A;ENST00000592186:exon7:c.955+1G>A)	.	.	0.999986675681007	0.94
18	48586287	G	C	18	51059917	y	y	splicing	SMAD4(NM_005359:exon8:c.955+1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.955+1G>C;ENST00000342988:exon8:c.955+1G>C;ENST00000592186:exon7:c.955+1G>C)	.	.	0.999986675681007	0.94
18	48586287	G	T	18	51059917	y	y	splicing	SMAD4(NM_005359:exon8:c.955+1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.955+1G>T;ENST00000342988:exon8:c.955+1G>T;ENST00000592186:exon7:c.955+1G>T)	.	.	0.999986675681007	0.94
18	48586288	T	A	18	51059918	y	y	splicing	SMAD4(NM_005359:exon8:c.955+2T>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.955+2T>A;ENST00000342988:exon8:c.955+2T>A;ENST00000592186:exon7:c.955+2T>A)	.	.	0.999989917668626	0.928
18	48586288	T	C	18	51059918	y	y	splicing	SMAD4(NM_005359:exon8:c.955+2T>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.955+2T>C;ENST00000342988:exon8:c.955+2T>C;ENST00000592186:exon7:c.955+2T>C)	.	.	0.990945634311904	0.628
18	48586288	T	G	18	51059918	y	y	splicing	SMAD4(NM_005359:exon8:c.955+2T>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon8:c.955+2T>G;ENST00000342988:exon8:c.955+2T>G;ENST00000592186:exon7:c.955+2T>G)	.	.	0.999989917668626	0.926
18	48586289	A	C	18	51059919	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.981356674702446	0.754
18	48586289	A	G	18	51059919	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0131037387645472	0.096
18	48586289	A	T	18	51059919	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.978358952276941	0.666
18	48586290	A	C	18	51059920	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.805709945316331	0.582
18	48586290	A	G	18	51059920	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.940420884038655	0.506
18	48586290	A	T	18	51059920	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.700961668555062	0.568
18	48586291	G	A	18	51059921	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.998369715309463	0.874
18	48586291	G	C	18	51059921	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.997427583010621	0.898
18	48586291	G	T	18	51059921	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.995060038694388	0.936
18	48586292	T	A	18	51059922	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.358966487357986	0.41
18	48586292	T	C	18	51059922	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.397291955437633	0.44
18	48586292	T	G	18	51059922	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0657177672565067	0.338
18	48586293	G	A	18	51059923	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.84196496938261E-5	0.0
18	48586293	G	C	18	51059923	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.17982546343499E-5	0.0
18	48586293	G	T	18	51059923	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.15928931281605E-5	0.006
18	48586294	T	A	18	51059924	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.29827230923027E-5	0.0
18	48586294	T	C	18	51059924	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.29827230923027E-5	0.0
18	48586294	T	G	18	51059924	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.66856947881885E-5	0.0
18	48591781	T	A	18	51065411	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0353278982755558	0.156
18	48591781	T	C	18	51065411	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.17307291537433E-4	0.024
18	48591781	T	G	18	51065411	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0109739326406105	0.122
18	48591782	A	C	18	51065412	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.91039599755321E-6	0.052
18	48591782	A	G	18	51065412	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	6.20222934352196E-6	0.056
18	48591782	A	T	18	51065412	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.82860481564278E-5	0.11
18	48591783	T	A	18	51065413	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00271760242179277	0.168
18	48591783	T	C	18	51065413	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.07740934833443E-4	0.064
18	48591783	T	G	18	51065413	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999944729270763	0.938
18	48591784	T	A	18	51065414	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00276343780862327	0.146
18	48591784	T	C	18	51065414	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.38074942111284E-5	0.078
18	48591784	T	G	18	51065414	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	4.49193128491446E-4	0.15
18	48591785	T	A	18	51065415	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.260628345513811	0.136
18	48591785	T	C	18	51065415	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00141038606443826	0.06
18	48591785	T	G	18	51065415	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.164838777415611	0.21
18	48591786	C	A	18	51065416	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0031536164481526	0.094
18	48591786	C	G	18	51065416	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00329542387208061	0.23
18	48591786	C	T	18	51065416	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.71133551176615E-5	0.008
18	48591787	C	A	18	51065417	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00907542017149984	0.146
18	48591787	C	G	18	51065417	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00496022973544686	0.138
18	48591787	C	T	18	51065417	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	7.06921453715376E-5	0.004
18	48591788	T	A	18	51065418	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0111400322957308	0.134
18	48591788	T	C	18	51065418	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.01353736507397E-4	0.09
18	48591788	T	G	18	51065418	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0096989326481679	0.154
18	48591789	A	C	18	51065419	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.11706689545736E-4	0.016
18	48591789	A	G	18	51065419	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.50096392192828E-4	0.02
18	48591789	A	T	18	51065419	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.2120768210642E-4	0.062
18	48591790	T	A	18	51065420	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0195543459168222	0.218
18	48591790	T	C	18	51065420	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	4.21386184174676E-5	0.0
18	48591790	T	G	18	51065420	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.991317603879381	0.724
18	48591791	A	C	18	51065421	y	y	splicing	SMAD4(NM_005359:exon9:c.956-2A>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.956-2A>C;ENST00000342988:exon9:c.956-2A>C;ENST00000588745:exon5:c.668-2A>C)	.	.	0.999988247793601	0.93
18	48591791	A	G	18	51065421	y	y	splicing	SMAD4(NM_005359:exon9:c.956-2A>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.956-2A>G;ENST00000342988:exon9:c.956-2A>G;ENST00000588745:exon5:c.668-2A>G)	.	.	0.999988247793601	0.93
18	48591791	A	T	18	51065421	y	y	splicing	SMAD4(NM_005359:exon9:c.956-2A>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.956-2A>T;ENST00000342988:exon9:c.956-2A>T;ENST00000588745:exon5:c.668-2A>T)	.	.	0.999988247793601	0.93
18	48591792	G	A	18	51065422	y	y	splicing	SMAD4(NM_005359:exon9:c.956-1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.956-1G>A;ENST00000342988:exon9:c.956-1G>A;ENST00000588745:exon5:c.668-1G>A)	.	.	0.999990361384395	0.938
18	48591792	G	C	18	51065422	y	y	splicing	SMAD4(NM_005359:exon9:c.956-1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.956-1G>C;ENST00000342988:exon9:c.956-1G>C;ENST00000588745:exon5:c.668-1G>C)	.	.	0.999990361384395	0.938
18	48591792	G	T	18	51065422	y	y	splicing	SMAD4(NM_005359:exon9:c.956-1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.956-1G>T;ENST00000342988:exon9:c.956-1G>T;ENST00000588745:exon5:c.668-1G>T)	.	.	0.999990361384395	0.938
18	48591793	C	A	18	51065423	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.C956A:p.A319D;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.C956A:p.A319D;ENSG00000141646:ENST00000398417:exon9:c.C956A:p.A319D;ENSG00000141646:ENST00000588745:exon5:c.C668A:p.T223N;	0.967579497889359	0.77
18	48591793	C	G	18	51065423	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.C956G:p.A319G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.C956G:p.A319G;ENSG00000141646:ENST00000398417:exon9:c.C956G:p.A319G;ENSG00000141646:ENST00000588745:exon5:c.C668G:p.T223S;	0.256318509132922	0.34
18	48591793	C	T	18	51065423	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.C956T:p.A319V;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.C956T:p.A319V;ENSG00000141646:ENST00000398417:exon9:c.C956T:p.A319V;ENSG00000141646:ENST00000588745:exon5:c.C668T:p.T223I;	0.996167222766612	0.876
18	48591794	T	A	18	51065424	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon9:c.T957A:p.A319A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.T957A:p.A319A;ENSG00000141646:ENST00000398417:exon9:c.T957A:p.A319A;ENSG00000141646:ENST00000588745:exon5:c.T669A:p.T223T;	0.32010911274477	0.384
18	48591794	T	C	18	51065424	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon9:c.T957C:p.A319A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.T957C:p.A319A;ENSG00000141646:ENST00000398417:exon9:c.T957C:p.A319A;ENSG00000141646:ENST00000588745:exon5:c.T669C:p.T223T;	0.516689440915806	0.348
18	48591794	T	G	18	51065424	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon9:c.T957G:p.A319A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.T957G:p.A319A;ENSG00000141646:ENST00000398417:exon9:c.T957G:p.A319A;ENSG00000141646:ENST00000588745:exon5:c.T669G:p.T223T;	0.335785248311776	0.352
18	48591974	A	C	18	51065604	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon9:c.A1137C:p.A379A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.A1137C:p.A379A;ENSG00000141646:ENST00000398417:exon9:c.A1137C:p.A379A;ENSG00000141646:ENST00000588745:exon5:c.A849C:p.A283A;	1.08289555672927E-4	0.002
18	48591974	A	G	18	51065604	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon9:c.A1137G:p.A379A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.A1137G:p.A379A;ENSG00000141646:ENST00000398417:exon9:c.A1137G:p.A379A;ENSG00000141646:ENST00000588745:exon5:c.A849G:p.A283A;	0.00810165661318134	0.09
18	48591974	A	T	18	51065604	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon9:c.A1137T:p.A379A;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.A1137T:p.A379A;ENSG00000141646:ENST00000398417:exon9:c.A1137T:p.A379A;ENSG00000141646:ENST00000588745:exon5:c.A849T:p.A283A;	0.424666514053277	0.616
18	48591975	A	C	18	51065605	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon9:c.A1138C:p.R380R;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.A1138C:p.R380R;ENSG00000141646:ENST00000398417:exon9:c.A1138C:p.R380R;ENSG00000141646:ENST00000588745:exon5:c.A850C:p.R284R;	0.998357014400846	0.948
18	48591975	A	G	18	51065605	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.A1138G:p.R380G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.A1138G:p.R380G;ENSG00000141646:ENST00000398417:exon9:c.A1138G:p.R380G;ENSG00000141646:ENST00000588745:exon5:c.A850G:p.R284G;	0.999734278889549	0.974
18	48591975	A	T	18	51065605	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.A1138T:p.R380W;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.A1138T:p.R380W;ENSG00000141646:ENST00000398417:exon9:c.A1138T:p.R380W;ENSG00000141646:ENST00000588745:exon5:c.A850T:p.R284W;	0.999945981509382	0.974
18	48591976	G	A	18	51065606	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.G1139A:p.R380K;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.G1139A:p.R380K;ENSG00000141646:ENST00000398417:exon9:c.G1139A:p.R380K;ENSG00000141646:ENST00000588745:exon5:c.G851A:p.R284K;	0.999995740104342	1.0
18	48591976	G	C	18	51065606	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.G1139C:p.R380T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.G1139C:p.R380T;ENSG00000141646:ENST00000398417:exon9:c.G1139C:p.R380T;ENSG00000141646:ENST00000588745:exon5:c.G851C:p.R284T;	0.999996965714003	1.0
18	48591976	G	T	18	51065606	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.G1139T:p.R380M;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon9:c.G1139T:p.R380M;ENSG00000141646:ENST00000398417:exon9:c.G1139T:p.R380M;ENSG00000141646:ENST00000588745:exon5:c.G851T:p.R284M;	0.999991630483647	0.998
18	48591977	G	A	18	51065607	y	y	splicing	SMAD4(NM_005359:exon9:c.1139+1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.1139+1G>A;ENST00000342988:exon9:c.1139+1G>A;ENST00000588745:exon5:c.851+1G>A)	.	.	0.999987670894945	0.94
18	48591977	G	C	18	51065607	y	y	splicing	SMAD4(NM_005359:exon9:c.1139+1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.1139+1G>C;ENST00000342988:exon9:c.1139+1G>C;ENST00000588745:exon5:c.851+1G>C)	.	.	0.999987670894945	0.94
18	48591977	G	T	18	51065607	y	y	splicing	SMAD4(NM_005359:exon9:c.1139+1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.1139+1G>T;ENST00000342988:exon9:c.1139+1G>T;ENST00000588745:exon5:c.851+1G>T)	.	.	0.999987670894945	0.94
18	48591978	T	A	18	51065608	y	y	splicing	SMAD4(NM_005359:exon9:c.1139+2T>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.1139+2T>A;ENST00000342988:exon9:c.1139+2T>A;ENST00000588745:exon5:c.851+2T>A)	.	.	0.999986741007567	0.938
18	48591978	T	C	18	51065608	y	y	splicing	SMAD4(NM_005359:exon9:c.1139+2T>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.1139+2T>C;ENST00000342988:exon9:c.1139+2T>C;ENST00000588745:exon5:c.851+2T>C)	.	.	0.98867753745201	0.678
18	48591978	T	G	18	51065608	y	y	splicing	SMAD4(NM_005359:exon9:c.1139+2T>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon9:c.1139+2T>G;ENST00000342988:exon9:c.1139+2T>G;ENST00000588745:exon5:c.851+2T>G)	.	.	0.999986741007567	0.938
18	48591979	A	C	18	51065609	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999799847181269	0.95
18	48591979	A	G	18	51065609	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999574214512333	0.96
18	48591979	A	T	18	51065609	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999799847181269	0.892
18	48591980	T	A	18	51065610	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.81856856157831E-4	0.038
18	48591980	T	C	18	51065610	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00624520040671225	0.11
18	48591980	T	G	18	51065610	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00216239995921563	0.082
18	48591981	T	A	18	51065611	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.50391282644634E-4	0.036
18	48591981	T	C	18	51065611	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.88776701727459E-4	0.052
18	48591981	T	G	18	51065611	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	4.61531430107209E-4	0.048
18	48591982	G	A	18	51065612	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.31707814395637E-4	0.092
18	48591982	G	C	18	51065612	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.33663144207813E-4	0.196
18	48591982	G	T	18	51065612	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	9.5992580351394E-5	0.066
18	48591983	A	C	18	51065613	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.84011975623824E-4	0.004
18	48591983	A	G	18	51065613	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.01005136231726E-4	0.0
18	48591983	A	T	18	51065613	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.80906919523768E-4	0.006
18	48591984	T	A	18	51065614	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	7.84376064016523E-4	0.09
18	48591984	T	C	18	51065614	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.48036639899706E-4	0.004
18	48591984	T	G	18	51065614	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.31775156999241E-4	0.008
18	48593377	T	A	18	51067007	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00938112968134577	0.368
18	48593377	T	C	18	51067007	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00181025619880818	0.064
18	48593377	T	G	18	51067007	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00422697895930701	0.316
18	48593378	T	A	18	51067008	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.9186053960669E-4	0.122
18	48593378	T	C	18	51067008	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.3972947637414E-4	0.024
18	48593378	T	G	18	51067008	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.66858837647248E-4	0.158
18	48593379	T	A	18	51067009	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.4289949960083E-4	0.176
18	48593379	T	C	18	51067009	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.39683126845348E-4	0.002
18	48593379	T	G	18	51067009	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.21893853122865E-4	0.124
18	48593380	C	A	18	51067010	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00292082618617919	0.08
18	48593380	C	G	18	51067010	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00240070312589506	0.064
18	48593380	C	T	18	51067010	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.17614085538456E-4	0.006
18	48593381	T	A	18	51067011	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	7.27161134474814E-5	0.02
18	48593381	T	C	18	51067011	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.91282948177431E-5	0.0
18	48593381	T	G	18	51067011	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	7.16134684233491E-5	0.034
18	48593382	T	A	18	51067012	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0039094198456969	0.108
18	48593382	T	C	18	51067012	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	7.8958645869128E-4	0.008
18	48593382	T	G	18	51067012	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00227129212411159	0.064
18	48593383	C	A	18	51067013	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.77371056645728E-4	0.108
18	48593383	C	G	18	51067013	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	6.00525364709587E-4	0.118
18	48593383	C	T	18	51067013	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.99119400226972E-5	0.0
18	48593384	C	A	18	51067014	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0380005967235	0.286
18	48593384	C	G	18	51067014	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0309274708889313	0.312
18	48593384	C	T	18	51067014	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00115919527635052	0.034
18	48593385	T	A	18	51067015	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	6.1299742744168E-4	0.004
18	48593385	T	C	18	51067015	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	7.77110876433756E-4	0.01
18	48593385	T	G	18	51067015	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00105366338095032	0.006
18	48593386	A	C	18	51067016	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.44047846908753E-4	0.036
18	48593386	A	G	18	51067016	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.022819753179225	0.158
18	48593386	A	T	18	51067016	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.66478672482375E-4	0.01
18	48593387	A	C	18	51067017	y	y	splicing	SMAD4(NM_005359:exon10:c.1140-2A>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1140-2A>C;ENST00000342988:exon10:c.1140-2A>C;ENST00000588745:exon6:c.852-2A>C)	.	.	0.999988247793601	0.928
18	48593387	A	G	18	51067017	y	y	splicing	SMAD4(NM_005359:exon10:c.1140-2A>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1140-2A>G;ENST00000342988:exon10:c.1140-2A>G;ENST00000588745:exon6:c.852-2A>G)	.	.	0.999988247793601	0.928
18	48593387	A	T	18	51067017	y	y	splicing	SMAD4(NM_005359:exon10:c.1140-2A>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1140-2A>T;ENST00000342988:exon10:c.1140-2A>T;ENST00000588745:exon6:c.852-2A>T)	.	.	0.999988247793601	0.928
18	48593388	G	A	18	51067018	y	y	splicing	SMAD4(NM_005359:exon10:c.1140-1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1140-1G>A;ENST00000342988:exon10:c.1140-1G>A;ENST00000588745:exon6:c.852-1G>A)	.	.	0.999993148181228	0.93
18	48593388	G	C	18	51067018	y	y	splicing	SMAD4(NM_005359:exon10:c.1140-1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1140-1G>C;ENST00000342988:exon10:c.1140-1G>C;ENST00000588745:exon6:c.852-1G>C)	.	.	0.999993148181228	0.93
18	48593388	G	T	18	51067018	y	y	splicing	SMAD4(NM_005359:exon10:c.1140-1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1140-1G>T;ENST00000342988:exon10:c.1140-1G>T;ENST00000588745:exon6:c.852-1G>T)	.	.	0.999993148181228	0.93
18	48593389	G	A	18	51067019	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon10:c.G1140A:p.R380R;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon10:c.G1140A:p.R380R;ENSG00000141646:ENST00000398417:exon10:c.G1140A:p.R380R;ENSG00000141646:ENST00000588745:exon6:c.G852A:p.R284R;	0.986298706701073	0.694
18	48593389	G	C	18	51067019	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.G1140C:p.R380S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon10:c.G1140C:p.R380S;ENSG00000141646:ENST00000398417:exon10:c.G1140C:p.R380S;ENSG00000141646:ENST00000588745:exon6:c.G852C:p.R284S;	0.997794957363572	0.878
18	48593389	G	T	18	51067019	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.G1140T:p.R380S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon10:c.G1140T:p.R380S;ENSG00000141646:ENST00000398417:exon10:c.G1140T:p.R380S;ENSG00000141646:ENST00000588745:exon6:c.G852T:p.R284S;	0.998786388528064	0.846
18	48593390	T	A	18	51067020	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.T1141A:p.L381M;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon10:c.T1141A:p.L381M;ENSG00000141646:ENST00000398417:exon10:c.T1141A:p.L381M;ENSG00000141646:ENST00000588745:exon6:c.T853A:p.L285M;	0.00409284688284375	0.116
18	48593390	T	C	18	51067020	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon10:c.T1141C:p.L381L;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon10:c.T1141C:p.L381L;ENSG00000141646:ENST00000398417:exon10:c.T1141C:p.L381L;ENSG00000141646:ENST00000588745:exon6:c.T853C:p.L285L;	0.00214520383125946	0.038
18	48593390	T	G	18	51067020	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.T1141G:p.L381V;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon10:c.T1141G:p.L381V;ENSG00000141646:ENST00000398417:exon10:c.T1141G:p.L381V;ENSG00000141646:ENST00000588745:exon6:c.T853G:p.L285V;	0.00442546636476595	0.116
18	48593555	A	C	18	51067185	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.A1306C:p.K436Q;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon1:c.A73C:p.K25Q;ENSG00000141646:ENST00000342988:exon10:c.A1306C:p.K436Q;ENSG00000141646:ENST00000398417:exon10:c.A1306C:p.K436Q;ENSG00000141646:ENST00000588745:exon6:c.A1018C:p.K340Q;	0.52377395640024	0.594
18	48593555	A	G	18	51067185	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.A1306G:p.K436E;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon1:c.A73G:p.K25E;ENSG00000141646:ENST00000342988:exon10:c.A1306G:p.K436E;ENSG00000141646:ENST00000398417:exon10:c.A1306G:p.K436E;ENSG00000141646:ENST00000588745:exon6:c.A1018G:p.K340E;	0.221936567271512	0.426
18	48593555	A	T	18	51067185	y	y	exonic	SMAD4	stopgain SNV	SMAD4:NM_005359:exon10:c.A1306T:p.K436X;	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000593223:exon1:c.A73T:p.K25X;ENSG00000141646:ENST00000342988:exon10:c.A1306T:p.K436X;ENSG00000141646:ENST00000398417:exon10:c.A1306T:p.K436X;ENSG00000141646:ENST00000588745:exon6:c.A1018T:p.K340X;	0.97312400218386	0.672
18	48593556	A	C	18	51067186	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.A1307C:p.K436T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon1:c.A74C:p.K25T;ENSG00000141646:ENST00000342988:exon10:c.A1307C:p.K436T;ENSG00000141646:ENST00000398417:exon10:c.A1307C:p.K436T;ENSG00000141646:ENST00000588745:exon6:c.A1019C:p.K340T;	0.98920158826836	0.822
18	48593556	A	G	18	51067186	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.A1307G:p.K436R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon1:c.A74G:p.K25R;ENSG00000141646:ENST00000342988:exon10:c.A1307G:p.K436R;ENSG00000141646:ENST00000398417:exon10:c.A1307G:p.K436R;ENSG00000141646:ENST00000588745:exon6:c.A1019G:p.K340R;	0.998634095961532	0.944
18	48593556	A	T	18	51067186	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.A1307T:p.K436M;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon1:c.A74T:p.K25M;ENSG00000141646:ENST00000342988:exon10:c.A1307T:p.K436M;ENSG00000141646:ENST00000398417:exon10:c.A1307T:p.K436M;ENSG00000141646:ENST00000588745:exon6:c.A1019T:p.K340M;	0.999330446981974	0.948
18	48593557	G	A	18	51067187	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon10:c.G1308A:p.K436K;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000593223:exon1:c.G75A:p.K25K;ENSG00000141646:ENST00000342988:exon10:c.G1308A:p.K436K;ENSG00000141646:ENST00000398417:exon10:c.G1308A:p.K436K;ENSG00000141646:ENST00000588745:exon6:c.G1020A:p.K340K;	0.999288582103565	0.996
18	48593557	G	C	18	51067187	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.G1308C:p.K436N;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon1:c.G75C:p.K25N;ENSG00000141646:ENST00000342988:exon10:c.G1308C:p.K436N;ENSG00000141646:ENST00000398417:exon10:c.G1308C:p.K436N;ENSG00000141646:ENST00000588745:exon6:c.G1020C:p.K340N;	0.99999788250985	0.998
18	48593557	G	T	18	51067187	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon10:c.G1308T:p.K436N;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon1:c.G75T:p.K25N;ENSG00000141646:ENST00000342988:exon10:c.G1308T:p.K436N;ENSG00000141646:ENST00000398417:exon10:c.G1308T:p.K436N;ENSG00000141646:ENST00000588745:exon6:c.G1020T:p.K340N;	0.999981885940217	0.984
18	48593558	G	A	18	51067188	y	y	splicing	SMAD4(NM_005359:exon10:c.1308+1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1308+1G>A;ENST00000342988:exon10:c.1308+1G>A;ENST00000588745:exon6:c.1020+1G>A;ENST00000593223:exon1:c.75+1G>A)	.	.	0.999986675681007	0.932
18	48593558	G	C	18	51067188	y	y	splicing	SMAD4(NM_005359:exon10:c.1308+1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1308+1G>C;ENST00000342988:exon10:c.1308+1G>C;ENST00000588745:exon6:c.1020+1G>C;ENST00000593223:exon1:c.75+1G>C)	.	.	0.999986675681007	0.932
18	48593558	G	T	18	51067188	y	y	splicing	SMAD4(NM_005359:exon10:c.1308+1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1308+1G>T;ENST00000342988:exon10:c.1308+1G>T;ENST00000588745:exon6:c.1020+1G>T;ENST00000593223:exon1:c.75+1G>T)	.	.	0.999986675681007	0.932
18	48593559	T	A	18	51067189	y	y	splicing	SMAD4(NM_005359:exon10:c.1308+2T>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1308+2T>A;ENST00000342988:exon10:c.1308+2T>A;ENST00000588745:exon6:c.1020+2T>A;ENST00000593223:exon1:c.75+2T>A)	.	.	0.999988247793601	0.928
18	48593559	T	C	18	51067189	y	y	splicing	SMAD4(NM_005359:exon10:c.1308+2T>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1308+2T>C;ENST00000342988:exon10:c.1308+2T>C;ENST00000588745:exon6:c.1020+2T>C;ENST00000593223:exon1:c.75+2T>C)	.	.	0.992054276455321	0.634
18	48593559	T	G	18	51067189	y	y	splicing	SMAD4(NM_005359:exon10:c.1308+2T>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon10:c.1308+2T>G;ENST00000342988:exon10:c.1308+2T>G;ENST00000588745:exon6:c.1020+2T>G;ENST00000593223:exon1:c.75+2T>G)	.	.	0.999988247793601	0.928
18	48593560	T	A	18	51067190	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00137231854601161	0.07
18	48593560	T	C	18	51067190	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.09643541596866E-4	0.168
18	48593560	T	G	18	51067190	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00128953727015653	0.05
18	48593561	A	C	18	51067191	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.614280196864208	0.632
18	48593561	A	G	18	51067191	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.780602751889294	0.636
18	48593561	A	T	18	51067191	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.907319233592763	0.638
18	48593562	G	A	18	51067192	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999777014008305	0.946
18	48593562	G	C	18	51067192	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.999839957095029	0.788
18	48593562	G	T	18	51067192	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.998219130053203	0.888
18	48593563	T	A	18	51067193	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.966911429312217	0.796
18	48593563	T	C	18	51067193	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.991563295771568	0.846
18	48593563	T	G	18	51067193	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.936045746903035	0.688
18	48593564	T	A	18	51067194	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	8.13035223872434E-5	0.0
18	48593564	T	C	18	51067194	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.7833491230417E-4	0.0
18	48593564	T	G	18	51067194	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.7833491230417E-4	0.002
18	48593565	A	C	18	51067195	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.11339049911864E-5	0.0
18	48593565	A	G	18	51067195	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.11339049911864E-5	0.0
18	48593565	A	T	18	51067195	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	4.82310627755887E-5	0.0
18	48602996	T	A	18	51076626	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.40543012936725E-4	0.064
18	48602996	T	C	18	51076626	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.89401453080995E-5	0.002
18	48602996	T	G	18	51076626	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.7452859435878E-5	0.024
18	48602997	T	A	18	51076627	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00112810068571555	0.104
18	48602997	T	C	18	51076627	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.55279560257873E-4	0.01
18	48602997	T	G	18	51076627	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.75165724281188E-4	0.026
18	48602998	T	A	18	51076628	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00133309084345291	0.062
18	48602998	T	C	18	51076628	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	4.64348588803401E-4	0.008
18	48602998	T	G	18	51076628	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	6.1341976675475E-4	0.114
18	48602999	T	A	18	51076629	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00167216295759622	0.076
18	48602999	T	C	18	51076629	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.8891294655494E-4	0.002
18	48602999	T	G	18	51076629	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	4.9256241202613E-4	0.062
18	48603000	C	A	18	51076630	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0030103884010807	0.108
18	48603000	C	G	18	51076630	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00151349505768047	0.092
18	48603000	C	T	18	51076630	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.03752713316792E-5	0.0
18	48603001	T	A	18	51076631	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0243816209568861	0.298
18	48603001	T	C	18	51076631	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.36705006665402E-4	0.088
18	48603001	T	G	18	51076631	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0136886466349326	0.284
18	48603002	T	A	18	51076632	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00131959010313003	0.064
18	48603002	T	C	18	51076632	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.28998066813752E-4	0.0
18	48603002	T	G	18	51076632	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00200392517048294	0.12
18	48603003	A	C	18	51076633	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	8.25588217855225E-6	0.0
18	48603003	A	G	18	51076633	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.46518775887073E-5	0.004
18	48603003	A	T	18	51076633	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	8.6067812384693E-6	0.0
18	48603004	A	C	18	51076634	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.55235819526234E-5	0.002
18	48603004	A	G	18	51076634	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.910614258097236	0.918
18	48603004	A	T	18	51076634	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	6.47714503140108E-5	0.002
18	48603005	A	C	18	51076635	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.43755569981891E-4	0.084
18	48603005	A	G	18	51076635	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.606928536643359	0.398
18	48603005	A	T	18	51076635	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.86183694343876E-5	0.002
18	48603006	A	C	18	51076636	y	y	splicing	SMAD4(NM_005359:exon11:c.1309-2A>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon11:c.1309-2A>C;ENST00000342988:exon11:c.1309-2A>C;ENST00000592186:exon8:c.956-2A>C;ENST00000588745:exon7:c.1021-2A>C;ENST00000593223:exon2:c.76-2A>C)	.	.	0.999988247793601	0.928
18	48603006	A	G	18	51076636	y	y	splicing	SMAD4(NM_005359:exon11:c.1309-2A>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon11:c.1309-2A>G;ENST00000342988:exon11:c.1309-2A>G;ENST00000592186:exon8:c.956-2A>G;ENST00000588745:exon7:c.1021-2A>G;ENST00000593223:exon2:c.76-2A>G)	.	.	0.999988247793601	0.928
18	48603006	A	T	18	51076636	y	y	splicing	SMAD4(NM_005359:exon11:c.1309-2A>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon11:c.1309-2A>T;ENST00000342988:exon11:c.1309-2A>T;ENST00000592186:exon8:c.956-2A>T;ENST00000588745:exon7:c.1021-2A>T;ENST00000593223:exon2:c.76-2A>T)	.	.	0.999988247793601	0.928
18	48603007	G	A	18	51076637	y	y	splicing	SMAD4(NM_005359:exon11:c.1309-1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon11:c.1309-1G>A;ENST00000342988:exon11:c.1309-1G>A;ENST00000592186:exon8:c.956-1G>A;ENST00000588745:exon7:c.1021-1G>A;ENST00000593223:exon2:c.76-1G>A)	.	.	0.999990361384395	0.938
18	48603007	G	C	18	51076637	y	y	splicing	SMAD4(NM_005359:exon11:c.1309-1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon11:c.1309-1G>C;ENST00000342988:exon11:c.1309-1G>C;ENST00000592186:exon8:c.956-1G>C;ENST00000588745:exon7:c.1021-1G>C;ENST00000593223:exon2:c.76-1G>C)	.	.	0.999990361384395	0.938
18	48603007	G	T	18	51076637	y	y	splicing	SMAD4(NM_005359:exon11:c.1309-1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon11:c.1309-1G>T;ENST00000342988:exon11:c.1309-1G>T;ENST00000592186:exon8:c.956-1G>T;ENST00000588745:exon7:c.1021-1G>T;ENST00000593223:exon2:c.76-1G>T)	.	.	0.999990361384395	0.938
18	48603008	G	A	18	51076638	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.G1309A:p.V437I;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G76A:p.V26I;ENSG00000141646:ENST00000342988:exon11:c.G1309A:p.V437I;ENSG00000141646:ENST00000398417:exon11:c.G1309A:p.V437I;ENSG00000141646:ENST00000588745:exon7:c.G1021A:p.V341I;ENSG00000141646:ENST00000592186:exon8:c.G956A:p.G319D;	0.999433163858032	0.888
18	48603008	G	C	18	51076638	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.G1309C:p.V437L;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G76C:p.V26L;ENSG00000141646:ENST00000342988:exon11:c.G1309C:p.V437L;ENSG00000141646:ENST00000398417:exon11:c.G1309C:p.V437L;ENSG00000141646:ENST00000588745:exon7:c.G1021C:p.V341L;ENSG00000141646:ENST00000592186:exon8:c.G956C:p.G319A;	0.999843797896142	0.984
18	48603008	G	T	18	51076638	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.G1309T:p.V437F;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G76T:p.V26F;ENSG00000141646:ENST00000342988:exon11:c.G1309T:p.V437F;ENSG00000141646:ENST00000398417:exon11:c.G1309T:p.V437F;ENSG00000141646:ENST00000588745:exon7:c.G1021T:p.V341F;ENSG00000141646:ENST00000592186:exon8:c.G956T:p.G319V;	0.999948006980806	1.0
18	48603009	T	A	18	51076639	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.T1310A:p.V437D;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T77A:p.V26D;ENSG00000141646:ENST00000342988:exon11:c.T1310A:p.V437D;ENSG00000141646:ENST00000398417:exon11:c.T1310A:p.V437D;ENSG00000141646:ENST00000588745:exon7:c.T1022A:p.V341D;	0.841395300544424	0.62
18	48603009	T	C	18	51076639	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.T1310C:p.V437A;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T77C:p.V26A;ENSG00000141646:ENST00000342988:exon11:c.T1310C:p.V437A;ENSG00000141646:ENST00000398417:exon11:c.T1310C:p.V437A;ENSG00000141646:ENST00000588745:exon7:c.T1022C:p.V341A;	0.601258790952118	0.632
18	48603009	T	G	18	51076639	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.T1310G:p.V437G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T77G:p.V26G;ENSG00000141646:ENST00000342988:exon11:c.T1310G:p.V437G;ENSG00000141646:ENST00000398417:exon11:c.T1310G:p.V437G;ENSG00000141646:ENST00000588745:exon7:c.T1022G:p.V341G;	0.819591518189337	0.612
18	48603144	T	A	18	51076774	y	n	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.T1445A:p.I482N;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T212A:p.I71N;ENSG00000141646:ENST00000342988:exon11:c.T1445A:p.I482N;ENSG00000141646:ENST00000398417:exon11:c.T1445A:p.I482N;ENSG00000141646:ENST00000588745:exon7:c.T1157A:p.I386N;	0.735140607834191	0.64
18	48603144	T	C	18	51076774	y	n	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.T1445C:p.I482T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T212C:p.I71T;ENSG00000141646:ENST00000342988:exon11:c.T1445C:p.I482T;ENSG00000141646:ENST00000398417:exon11:c.T1445C:p.I482T;ENSG00000141646:ENST00000588745:exon7:c.T1157C:p.I386T;	0.00332476855618173	0.07
18	48603144	T	G	18	51076774	y	n	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.T1445G:p.I482S;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T212G:p.I71S;ENSG00000141646:ENST00000342988:exon11:c.T1445G:p.I482S;ENSG00000141646:ENST00000398417:exon11:c.T1445G:p.I482S;ENSG00000141646:ENST00000588745:exon7:c.T1157G:p.I386S;	0.126529203030924	0.334
18	48603145	C	A	18	51076775	y	n	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon11:c.C1446A:p.I482I;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.C213A:p.I71I;ENSG00000141646:ENST00000342988:exon11:c.C1446A:p.I482I;ENSG00000141646:ENST00000398417:exon11:c.C1446A:p.I482I;ENSG00000141646:ENST00000588745:exon7:c.C1158A:p.I386I;	0.00448240560111301	0.204
18	48603145	C	G	18	51076775	y	n	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.C1446G:p.I482M;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.C213G:p.I71M;ENSG00000141646:ENST00000342988:exon11:c.C1446G:p.I482M;ENSG00000141646:ENST00000398417:exon11:c.C1446G:p.I482M;ENSG00000141646:ENST00000588745:exon7:c.C1158G:p.I386M;	0.134336545066556	0.402
18	48603145	C	T	18	51076775	y	n	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon11:c.C1446T:p.I482I;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.C213T:p.I71I;ENSG00000141646:ENST00000342988:exon11:c.C1446T:p.I482I;ENSG00000141646:ENST00000398417:exon11:c.C1446T:p.I482I;ENSG00000141646:ENST00000588745:exon7:c.C1158T:p.I386I;	0.00951887563979673	0.26
18	48603146	A	C	18	51076776	y	n	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.A1447C:p.S483R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A214C:p.S72R;ENSG00000141646:ENST00000342988:exon11:c.A1447C:p.S483R;ENSG00000141646:ENST00000398417:exon11:c.A1447C:p.S483R;ENSG00000141646:ENST00000588745:exon7:c.A1159C:p.S387R;	0.621496846081906	0.758
18	48603146	A	G	18	51076776	y	n	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.A1447G:p.S483G;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A214G:p.S72G;ENSG00000141646:ENST00000342988:exon11:c.A1447G:p.S483G;ENSG00000141646:ENST00000398417:exon11:c.A1447G:p.S483G;ENSG00000141646:ENST00000588745:exon7:c.A1159G:p.S387G;	0.0332790278443295	0.106
18	48603146	A	T	18	51076776	y	n	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon11:c.A1447T:p.S483C;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A214T:p.S72C;ENSG00000141646:ENST00000342988:exon11:c.A1447T:p.S483C;ENSG00000141646:ENST00000398417:exon11:c.A1447T:p.S483C;ENSG00000141646:ENST00000588745:exon7:c.A1159T:p.S387C;	0.930708476010126	0.632
18	48603147	G	A	18	51076777	y	n	splicing	SMAD4(NM_005359:exon11:c.1447+1G>A)	.	.	exonic;splicing	ENSG00000141646;ENSG00000141646(ENST00000398417:exon11:c.1447+1G>A;ENST00000342988:exon11:c.1447+1G>A;ENST00000592186:exon8:c.1094+1G>A;ENST00000588745:exon7:c.1159+1G>A)	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G215A:p.S72N;	0.999990361384395	0.938
18	48603147	G	C	18	51076777	y	n	splicing	SMAD4(NM_005359:exon11:c.1447+1G>C)	.	.	exonic;splicing	ENSG00000141646;ENSG00000141646(ENST00000398417:exon11:c.1447+1G>C;ENST00000342988:exon11:c.1447+1G>C;ENST00000592186:exon8:c.1094+1G>C;ENST00000588745:exon7:c.1159+1G>C)	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G215C:p.S72T;	0.999990361384395	0.938
18	48603147	G	T	18	51076777	y	n	splicing	SMAD4(NM_005359:exon11:c.1447+1G>T)	.	.	exonic;splicing	ENSG00000141646;ENSG00000141646(ENST00000398417:exon11:c.1447+1G>T;ENST00000342988:exon11:c.1447+1G>T;ENST00000592186:exon8:c.1094+1G>T;ENST00000588745:exon7:c.1159+1G>T)	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G215T:p.S72I;	0.999990361384395	0.938
18	48603148	T	A	18	51076778	y	n	splicing	SMAD4(NM_005359:exon11:c.1447+2T>A)	.	.	exonic;splicing	ENSG00000141646;ENSG00000141646(ENST00000398417:exon11:c.1447+2T>A;ENST00000342988:exon11:c.1447+2T>A;ENST00000592186:exon8:c.1094+2T>A;ENST00000588745:exon7:c.1159+2T>A)	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T216A:p.S72R;	0.999988247793601	0.93
18	48603148	T	C	18	51076778	y	n	splicing	SMAD4(NM_005359:exon11:c.1447+2T>C)	.	.	exonic;splicing	ENSG00000141646;ENSG00000141646(ENST00000398417:exon11:c.1447+2T>C;ENST00000342988:exon11:c.1447+2T>C;ENST00000592186:exon8:c.1094+2T>C;ENST00000588745:exon7:c.1159+2T>C)	synonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T216C:p.S72S;	0.999134264562125	0.858
18	48603148	T	G	18	51076778	y	n	splicing	SMAD4(NM_005359:exon11:c.1447+2T>G)	.	.	exonic;splicing	ENSG00000141646;ENSG00000141646(ENST00000398417:exon11:c.1447+2T>G;ENST00000342988:exon11:c.1447+2T>G;ENST00000592186:exon8:c.1094+2T>G;ENST00000588745:exon7:c.1159+2T>G)	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T216G:p.S72R;	0.999988247793601	0.93
18	48603149	A	C	18	51076779	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A217C:p.K73Q;	0.999688824105619	0.922
18	48603149	A	G	18	51076779	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A217G:p.K73E;	0.709374956712618	0.508
18	48603149	A	T	18	51076779	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000593223:exon2:c.A217T:p.K73X;	0.999714406314871	0.98
18	48603150	A	C	18	51076780	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A218C:p.K73T;	0.943296714815855	0.67
18	48603150	A	G	18	51076780	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A218G:p.K73R;	0.970183456667429	0.792
18	48603150	A	T	18	51076780	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A218T:p.K73M;	0.943856413877285	0.718
18	48603151	G	A	18	51076781	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G219A:p.K73K;	0.999980179124399	0.998
18	48603151	G	C	18	51076781	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G219C:p.K73N;	0.999977537648937	0.962
18	48603151	G	T	18	51076781	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.G219T:p.K73N;	0.999971642142256	0.966
18	48603152	T	A	18	51076782	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T220A:p.Y74N;	0.960111974462233	0.628
18	48603152	T	C	18	51076782	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T220C:p.Y74H;	0.968503020289604	0.736
18	48603152	T	G	18	51076782	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T220G:p.Y74D;	0.961279043848942	0.728
18	48603153	A	C	18	51076783	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A221C:p.Y74S;	0.00156068076020012	0.044
18	48603153	A	G	18	51076783	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A221G:p.Y74C;	0.00163872377434235	0.006
18	48603153	A	T	18	51076783	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.A221T:p.Y74F;	0.00282222069161082	0.004
18	48603154	T	A	18	51076784	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000593223:exon2:c.T222A:p.Y74X;	3.36032275620891E-4	0.01
18	48603154	T	C	18	51076784	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000593223:exon2:c.T222C:p.Y74Y;	4.67442152287222E-5	0.0
18	48603154	T	G	18	51076784	y	n	intronic	SMAD4	.	.	exonic	ENSG00000141646	stopgain SNV	ENSG00000141646:ENST00000593223:exon2:c.T222G:p.Y74X;	4.67442152287222E-5	0.002
18	48604614	C	A	18	51078244	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.17121409309891E-4	0.036
18	48604614	C	G	18	51078244	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.06131340776614E-4	0.036
18	48604614	C	T	18	51078244	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.53719777441999E-5	0.0
18	48604615	T	A	18	51078245	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.468684760073305	0.484
18	48604615	T	C	18	51078245	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0395152556925933	0.232
18	48604615	T	G	18	51078245	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.338262690621597	0.478
18	48604616	T	A	18	51078246	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.601482882774696	0.488
18	48604616	T	C	18	51078246	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00309164846099328	0.11
18	48604616	T	G	18	51078246	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.598878309703487	0.542
18	48604617	T	A	18	51078247	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0194120632758518	0.17
18	48604617	T	C	18	51078247	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.43703484262114E-4	0.004
18	48604617	T	G	18	51078247	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00271596345511032	0.154
18	48604618	T	A	18	51078248	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	2.42099746555354E-4	0.07
18	48604618	T	C	18	51078248	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.61713149399826E-5	0.012
18	48604618	T	G	18	51078248	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.31246505426024E-4	0.078
18	48604619	C	A	18	51078249	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00326687713774872	0.13
18	48604619	C	G	18	51078249	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.00213752223623826	0.24
18	48604619	C	T	18	51078249	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.43243016291449E-5	0.01
18	48604620	T	A	18	51078250	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.998804590495069	0.582
18	48604620	T	C	18	51078250	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.24679867272194E-5	0.07
18	48604620	T	G	18	51078250	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.0121295396982892	0.442
18	48604621	G	A	18	51078251	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.12565753200303E-5	0.004
18	48604621	G	C	18	51078251	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	6.74594511563322E-5	0.018
18	48604621	G	T	18	51078251	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.01240257452117E-4	0.018
18	48604622	T	A	18	51078252	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.26362057741401E-5	0.0
18	48604622	T	C	18	51078252	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	5.28608366541997E-5	0.0
18	48604622	T	G	18	51078252	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	1.79194343912713E-4	0.008
18	48604623	T	A	18	51078253	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.110455544252734	0.462
18	48604623	T	C	18	51078253	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	3.03897190987883E-4	0.03
18	48604623	T	G	18	51078253	y	y	intronic	SMAD4	.	.	intronic	ENSG00000141646	.	.	0.998846160347271	0.688
18	48604624	A	C	18	51078254	y	y	splicing	SMAD4(NM_005359:exon12:c.1448-2A>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon12:c.1448-2A>C;ENST00000342988:exon12:c.1448-2A>C;ENST00000592186:exon9:c.1095-2A>C;ENST00000588745:exon8:c.1160-2A>C)	.	.	0.999988247793601	0.928
18	48604624	A	G	18	51078254	y	y	splicing	SMAD4(NM_005359:exon12:c.1448-2A>G)	.	.	splicing	ENSG00000141646(ENST00000398417:exon12:c.1448-2A>G;ENST00000342988:exon12:c.1448-2A>G;ENST00000592186:exon9:c.1095-2A>G;ENST00000588745:exon8:c.1160-2A>G)	.	.	0.999988247793601	0.928
18	48604624	A	T	18	51078254	y	y	splicing	SMAD4(NM_005359:exon12:c.1448-2A>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon12:c.1448-2A>T;ENST00000342988:exon12:c.1448-2A>T;ENST00000592186:exon9:c.1095-2A>T;ENST00000588745:exon8:c.1160-2A>T)	.	.	0.999988247793601	0.928
18	48604625	G	A	18	51078255	y	y	splicing	SMAD4(NM_005359:exon12:c.1448-1G>A)	.	.	splicing	ENSG00000141646(ENST00000398417:exon12:c.1448-1G>A;ENST00000342988:exon12:c.1448-1G>A;ENST00000592186:exon9:c.1095-1G>A;ENST00000588745:exon8:c.1160-1G>A)	.	.	0.999990361384395	0.936
18	48604625	G	C	18	51078255	y	y	splicing	SMAD4(NM_005359:exon12:c.1448-1G>C)	.	.	splicing	ENSG00000141646(ENST00000398417:exon12:c.1448-1G>C;ENST00000342988:exon12:c.1448-1G>C;ENST00000592186:exon9:c.1095-1G>C;ENST00000588745:exon8:c.1160-1G>C)	.	.	0.999990361384395	0.934
18	48604625	G	T	18	51078255	y	y	splicing	SMAD4(NM_005359:exon12:c.1448-1G>T)	.	.	splicing	ENSG00000141646(ENST00000398417:exon12:c.1448-1G>T;ENST00000342988:exon12:c.1448-1G>T;ENST00000592186:exon9:c.1095-1G>T;ENST00000588745:exon8:c.1160-1G>T)	.	.	0.999990361384395	0.936
18	48604626	G	A	18	51078256	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon12:c.G1448A:p.S483N;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon12:c.G1448A:p.S483N;ENSG00000141646:ENST00000398417:exon12:c.G1448A:p.S483N;ENSG00000141646:ENST00000588745:exon8:c.G1160A:p.S387N;	0.998077704616357	0.764
18	48604626	G	C	18	51078256	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon12:c.G1448C:p.S483T;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon12:c.G1448C:p.S483T;ENSG00000141646:ENST00000398417:exon12:c.G1448C:p.S483T;ENSG00000141646:ENST00000588745:exon8:c.G1160C:p.S387T;	0.999603350250803	0.92
18	48604626	G	T	18	51078256	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon12:c.G1448T:p.S483I;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon12:c.G1448T:p.S483I;ENSG00000141646:ENST00000398417:exon12:c.G1448T:p.S483I;ENSG00000141646:ENST00000588745:exon8:c.G1160T:p.S387I;	0.999880336339099	0.998
18	48604627	T	A	18	51078257	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon12:c.T1449A:p.S483R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon12:c.T1449A:p.S483R;ENSG00000141646:ENST00000398417:exon12:c.T1449A:p.S483R;ENSG00000141646:ENST00000588745:exon8:c.T1161A:p.S387R;	0.0119726937893408	0.178
18	48604627	T	C	18	51078257	y	y	exonic	SMAD4	synonymous SNV	SMAD4:NM_005359:exon12:c.T1449C:p.S483S;	exonic	ENSG00000141646	synonymous SNV	ENSG00000141646:ENST00000342988:exon12:c.T1449C:p.S483S;ENSG00000141646:ENST00000398417:exon12:c.T1449C:p.S483S;ENSG00000141646:ENST00000588745:exon8:c.T1161C:p.S387S;	0.00433228247852262	0.168
18	48604627	T	G	18	51078257	y	y	exonic	SMAD4	nonsynonymous SNV	SMAD4:NM_005359:exon12:c.T1449G:p.S483R;	exonic	ENSG00000141646	nonsynonymous SNV	ENSG00000141646:ENST00000342988:exon12:c.T1449G:p.S483R;ENSG00000141646:ENST00000398417:exon12:c.T1449G:p.S483R;ENSG00000141646:ENST00000588745:exon8:c.T1161G:p.S387R;	0.0249294570069423	0.208
18	48703945	A	C	18	51177575	y	y	exonic	MEX3C	synonymous SNV	MEX3C:NM_016626:exon2:c.T756G:p.G252G;	exonic	ENSG00000176624	synonymous SNV	ENSG00000176624:ENST00000406189:exon2:c.T756G:p.G252G;	0.0150079432190219	0.238
18	48703945	A	G	18	51177575	y	y	exonic	MEX3C	synonymous SNV	MEX3C:NM_016626:exon2:c.T756C:p.G252G;	exonic	ENSG00000176624	synonymous SNV	ENSG00000176624:ENST00000406189:exon2:c.T756C:p.G252G;	0.0159756659658595	0.126
18	48703945	A	T	18	51177575	y	y	exonic	MEX3C	synonymous SNV	MEX3C:NM_016626:exon2:c.T756A:p.G252G;	exonic	ENSG00000176624	synonymous SNV	ENSG00000176624:ENST00000406189:exon2:c.T756A:p.G252G;	0.0189198386926817	0.158
18	48703946	C	A	18	51177576	y	y	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G755T:p.G252V;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon2:c.G755T:p.G252V;	0.999845007615846	0.992
18	48703946	C	G	18	51177576	y	y	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G755C:p.G252A;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon2:c.G755C:p.G252A;	0.999832827300778	0.988
18	48703946	C	T	18	51177576	y	y	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G755A:p.G252D;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon2:c.G755A:p.G252D;	0.998843137421205	0.888
18	48703947	C	A	18	51177577	y	y	splicing	MEX3C(NM_016626:exon3:c.755-1G>T)	.	.	splicing	ENSG00000176624(ENST00000406189:exon3:c.755-1G>T)	.	.	0.999989072007339	0.932
18	48703947	C	G	18	51177577	y	y	splicing	MEX3C(NM_016626:exon3:c.755-1G>C)	.	.	splicing	ENSG00000176624(ENST00000406189:exon3:c.755-1G>C)	.	.	0.999989072007339	0.932
18	48703947	C	T	18	51177577	y	y	splicing	MEX3C(NM_016626:exon3:c.755-1G>A)	.	.	splicing	ENSG00000176624(ENST00000406189:exon3:c.755-1G>A)	.	.	0.999989072007339	0.932
18	48703948	T	A	18	51177578	y	y	splicing	MEX3C(NM_016626:exon3:c.755-2A>T)	.	.	splicing	ENSG00000176624(ENST00000406189:exon3:c.755-2A>T)	.	.	0.999988247793601	0.93
18	48703948	T	C	18	51177578	y	y	splicing	MEX3C(NM_016626:exon3:c.755-2A>G)	.	.	splicing	ENSG00000176624(ENST00000406189:exon3:c.755-2A>G)	.	.	0.999988247793601	0.93
18	48703948	T	G	18	51177578	y	y	splicing	MEX3C(NM_016626:exon3:c.755-2A>C)	.	.	splicing	ENSG00000176624(ENST00000406189:exon3:c.755-2A>C)	.	.	0.999988247793601	0.93
18	48703949	G	A	18	51177579	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.0409305297281075	0.178
18	48703949	G	C	18	51177579	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.999616144002393	0.942
18	48703949	G	T	18	51177579	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.996133899545579	0.614
18	48703950	T	A	18	51177580	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00222520458330094	0.08
18	48703950	T	C	18	51177580	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.980315701196591	0.696
18	48703950	T	G	18	51177580	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00324786599763962	0.046
18	48703951	T	A	18	51177581	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	8.05769513605974E-4	0.008
18	48703951	T	C	18	51177581	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00159903653656516	0.016
18	48703951	T	G	18	51177581	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00103647200738429	0.01
18	48703952	A	C	18	51177582	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	4.58263351327924E-4	0.05
18	48703952	A	G	18	51177582	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	2.70857811337521E-5	0.0
18	48703952	A	T	18	51177582	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00155400399252573	0.036
18	48703953	G	A	18	51177583	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	1.60872553808136E-4	0.004
18	48703953	G	C	18	51177583	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00280271740497786	0.066
18	48703953	G	T	18	51177583	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00388317899577083	0.118
18	48703954	A	C	18	51177584	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.0051728227851485	0.164
18	48703954	A	G	18	51177584	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	6.20414277629185E-5	0.0
18	48703954	A	T	18	51177584	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00656506706276661	0.116
18	48703955	A	C	18	51177585	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.0278992117259429	0.086
18	48703955	A	G	18	51177585	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.0020766433043044	0.036
18	48703955	A	T	18	51177585	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.0353410296112091	0.106
18	48703956	A	C	18	51177586	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00899324535531872	0.148
18	48703956	A	G	18	51177586	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00261289749271506	0.104
18	48703956	A	T	18	51177586	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00124722091513344	0.184
18	48703957	G	A	18	51177587	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	3.60586773373574E-5	0.0
18	48703957	G	C	18	51177587	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00133658416668131	0.032
18	48703957	G	T	18	51177587	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.00277839009771567	0.146
18	48703958	A	C	18	51177588	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.907238153443881	0.616
18	48703958	A	G	18	51177588	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.161757142506338	0.384
18	48703958	A	T	18	51177588	y	y	intronic	MEX3C	.	.	intronic	ENSG00000176624	.	.	0.970745943941924	0.652
18	48722929	G	A	18	51196559	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	synonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.C201T:p.C67C;	9.26351819982407E-5	0.024
18	48722929	G	C	18	51196559	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.C201G:p.C67W;	5.94560783439857E-5	0.0
18	48722929	G	T	18	51196559	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	stopgain SNV	ENSG00000176624:ENST00000592416:exon1:c.C201A:p.C67X;	5.71242653242957E-5	0.0
18	48722930	C	A	18	51196560	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G200T:p.C67F;	0.0046030243441433	0.05
18	48722930	C	G	18	51196560	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G200C:p.C67S;	0.00889667340528939	0.032
18	48722930	C	T	18	51196560	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G200A:p.C67Y;	0.00880493352886119	0.034
18	48722931	A	C	18	51196561	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.T199G:p.C67G;	0.669078634389757	0.522
18	48722931	A	G	18	51196561	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.T199C:p.C67R;	0.350123591325313	0.442
18	48722931	A	T	18	51196561	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.T199A:p.C67S;	0.897744382914785	0.656
18	48722932	C	A	18	51196562	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G198T:p.E66D;	0.99987278297047	0.852
18	48722932	C	G	18	51196562	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G198C:p.E66D;	0.999901206515412	0.95
18	48722932	C	T	18	51196562	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	synonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G198A:p.E66E;	0.999938781282908	0.972
18	48722933	T	A	18	51196563	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.A197T:p.E66V;	0.998703824368793	0.864
18	48722933	T	C	18	51196563	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.A197G:p.E66G;	0.996609122869669	0.87
18	48722933	T	G	18	51196563	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.A197C:p.E66A;	0.984006844200659	0.746
18	48722934	C	A	18	51196564	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	stopgain SNV	ENSG00000176624:ENST00000592416:exon1:c.G196T:p.E66X;	0.969435914370385	0.668
18	48722934	C	G	18	51196564	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G196C:p.E66Q;	0.994690047015857	0.834
18	48722934	C	T	18	51196564	y	n	intronic	MEX3C	.	.	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G196A:p.E66K;	0.00191256541787824	0.02
18	48722935	A	C	18	51196565	y	n	splicing	MEX3C(NM_016626:exon2:c.754+2T>G)	.	.	exonic;splicing	ENSG00000176624;ENSG00000176624(ENST00000406189:exon2:c.754+2T>G)	synonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.T195G:p.G65G;	0.999994723900236	0.928
18	48722935	A	G	18	51196565	y	n	splicing	MEX3C(NM_016626:exon2:c.754+2T>C)	.	.	exonic;splicing	ENSG00000176624;ENSG00000176624(ENST00000406189:exon2:c.754+2T>C)	synonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.T195C:p.G65G;	0.999952841816934	0.856
18	48722935	A	T	18	51196565	y	n	splicing	MEX3C(NM_016626:exon2:c.754+2T>A)	.	.	exonic;splicing	ENSG00000176624;ENSG00000176624(ENST00000406189:exon2:c.754+2T>A)	synonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.T195A:p.G65G;	0.999994723900236	0.928
18	48722936	C	A	18	51196566	y	n	splicing	MEX3C(NM_016626:exon2:c.754+1G>T)	.	.	exonic;splicing	ENSG00000176624;ENSG00000176624(ENST00000406189:exon2:c.754+1G>T)	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G194T:p.G65V;	0.999993672935256	0.928
18	48722936	C	G	18	51196566	y	n	splicing	MEX3C(NM_016626:exon2:c.754+1G>C)	.	.	exonic;splicing	ENSG00000176624;ENSG00000176624(ENST00000406189:exon2:c.754+1G>C)	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G194C:p.G65A;	0.999993672935256	0.928
18	48722936	C	T	18	51196566	y	n	splicing	MEX3C(NM_016626:exon2:c.754+1G>A)	.	.	exonic;splicing	ENSG00000176624;ENSG00000176624(ENST00000406189:exon2:c.754+1G>A)	nonsynonymous SNV	ENSG00000176624:ENST00000592416:exon1:c.G194A:p.G65D;	0.999993672935256	0.93
18	48722937	C	A	18	51196567	y	n	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.G754T:p.G252C;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.G754T:p.G252C;ENSG00000176624:ENST00000592416:exon1:c.G193T:p.G65C;	0.998155378579322	0.948
18	48722937	C	G	18	51196567	y	n	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.G754C:p.G252R;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.G754C:p.G252R;ENSG00000176624:ENST00000592416:exon1:c.G193C:p.G65R;	0.999283250424012	0.972
18	48722937	C	T	18	51196567	y	n	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.G754A:p.G252S;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.G754A:p.G252S;ENSG00000176624:ENST00000592416:exon1:c.G193A:p.G65S;	0.996757353235348	0.92
18	48722938	C	A	18	51196568	y	n	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.G753T:p.Q251H;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.G753T:p.Q251H;ENSG00000176624:ENST00000592416:exon1:c.G192T:p.Q64H;	0.592401046123244	0.57
18	48722938	C	G	18	51196568	y	n	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.G753C:p.Q251H;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.G753C:p.Q251H;ENSG00000176624:ENST00000592416:exon1:c.G192C:p.Q64H;	0.679721960354492	0.718
18	48722938	C	T	18	51196568	y	n	exonic	MEX3C	synonymous SNV	MEX3C:NM_016626:exon1:c.G753A:p.Q251Q;	exonic	ENSG00000176624	synonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.G753A:p.Q251Q;ENSG00000176624:ENST00000592416:exon1:c.G192A:p.Q64Q;	0.00374896066600284	0.086
18	48722939	T	A	18	51196569	y	n	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.A752T:p.Q251L;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.A752T:p.Q251L;ENSG00000176624:ENST00000592416:exon1:c.A191T:p.Q64L;	0.639516994146404	0.356
18	48722939	T	C	18	51196569	y	n	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.A752G:p.Q251R;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.A752G:p.Q251R;ENSG00000176624:ENST00000592416:exon1:c.A191G:p.Q64R;	0.0601499940728326	0.304
18	48722939	T	G	18	51196569	y	n	exonic	MEX3C	nonsynonymous SNV	MEX3C:NM_016626:exon1:c.A752C:p.Q251P;	exonic	ENSG00000176624	nonsynonymous SNV	ENSG00000176624:ENST00000406189:exon1:c.A752C:p.Q251P;ENSG00000176624:ENST00000592416:exon1:c.A191C:p.Q64P;	0.298805867974985	0.418
18	49867246	C	A	18	52340876	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon1:c.C89A:p.T30N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.C89A:p.T30N;	0.012053733836822	0.1
18	49867246	C	G	18	52340876	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon1:c.C89G:p.T30S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.C89G:p.T30S;	0.00317181800268163	0.106
18	49867246	C	T	18	52340876	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon1:c.C89T:p.T30I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.C89T:p.T30I;	0.398253496480998	0.228
18	49867247	C	A	18	52340877	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon1:c.C90A:p.T30T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.C90A:p.T30T;	3.73666572767076E-4	0.104
18	49867247	C	G	18	52340877	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon1:c.C90G:p.T30T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.C90G:p.T30T;	2.83420458182385E-4	0.008
18	49867247	C	T	18	52340877	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon1:c.C90T:p.T30T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.C90T:p.T30T;	2.59104473333104E-4	0.024
18	49867248	G	A	18	52340878	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon1:c.G91A:p.G31S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.G91A:p.G31S;	0.999917292157001	0.936
18	49867248	G	C	18	52340878	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon1:c.G91C:p.G31R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.G91C:p.G31R;	0.999972320368428	0.972
18	49867248	G	T	18	52340878	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon1:c.G91T:p.G31C;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon1:c.G91T:p.G31C;	0.999929443639493	0.972
18	49867249	G	A	18	52340879	y	y	splicing	DCC(NM_005215:exon1:c.91+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon1:c.91+1G>A)	.	.	0.999989072007339	0.932
18	49867249	G	C	18	52340879	y	y	splicing	DCC(NM_005215:exon1:c.91+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon1:c.91+1G>C)	.	.	0.999989072007339	0.932
18	49867249	G	T	18	52340879	y	y	splicing	DCC(NM_005215:exon1:c.91+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon1:c.91+1G>T)	.	.	0.999989072007339	0.932
18	49867250	T	A	18	52340880	y	y	splicing	DCC(NM_005215:exon1:c.91+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon1:c.91+2T>A)	.	.	0.999981808176352	0.918
18	49867250	T	C	18	52340880	y	y	splicing	DCC(NM_005215:exon1:c.91+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon1:c.91+2T>C)	.	.	0.98098470520779	0.552
18	49867250	T	G	18	52340880	y	y	splicing	DCC(NM_005215:exon1:c.91+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon1:c.91+2T>G)	.	.	0.999981808176352	0.918
18	49867251	A	C	18	52340881	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.983109842640593	0.806
18	49867251	A	G	18	52340881	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.011975542731787	0.136
18	49867251	A	T	18	52340881	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.93756210602676	0.69
18	49867252	A	C	18	52340882	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.95729529543199	0.78
18	49867252	A	G	18	52340882	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.996944272633086	0.812
18	49867252	A	T	18	52340882	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99070463017054	0.838
18	49867253	G	A	18	52340883	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999707468495423	0.83
18	49867253	G	C	18	52340883	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999164157521929	0.822
18	49867253	G	T	18	52340883	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999415382475802	0.876
18	49867254	T	A	18	52340884	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00235823659791528	0.114
18	49867254	T	C	18	52340884	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0161429468737276	0.122
18	49867254	T	G	18	52340884	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.12174435709739E-4	0.046
18	49867255	G	A	18	52340885	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.20237970951444E-4	0.01
18	49867255	G	C	18	52340885	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.03334260509943E-4	0.002
18	49867255	G	T	18	52340885	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.03334260509943E-4	0.002
18	49867256	G	A	18	52340886	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.78929785447708E-5	0.028
18	49867256	G	C	18	52340886	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.78662238186337E-5	0.02
18	49867256	G	T	18	52340886	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.78662238186337E-5	0.016
18	50278412	C	A	18	52752042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.14343122234152E-4	0.042
18	50278412	C	G	18	52752042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.25036026536666E-4	0.012
18	50278412	C	T	18	52752042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.43651817140641E-5	0.014
18	50278413	T	A	18	52752043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.247532791869506	0.538
18	50278413	T	C	18	52752043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0397430985604159	0.154
18	50278413	T	G	18	52752043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0459977539545615	0.372
18	50278414	C	A	18	52752044	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0360039102217811	0.122
18	50278414	C	G	18	52752044	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0274096966579746	0.136
18	50278414	C	T	18	52752044	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0394790359717535	0.316
18	50278415	T	A	18	52752045	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.36136983720349E-5	0.098
18	50278415	T	C	18	52752045	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.71735092696254E-6	0.016
18	50278415	T	G	18	52752045	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.5382368801342E-5	0.07
18	50278416	T	A	18	52752046	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998317966577681	0.886
18	50278416	T	C	18	52752046	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.60592865965054E-5	0.004
18	50278416	T	G	18	52752046	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.95213752332812E-4	0.172
18	50278417	G	A	18	52752047	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.61215820069128E-4	0.02
18	50278417	G	C	18	52752047	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.02931184563501E-4	0.008
18	50278417	G	T	18	52752047	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.57332510569235E-5	0.0
18	50278418	T	A	18	52752048	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00375494114618643	0.06
18	50278418	T	C	18	52752048	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.38834070185111E-4	0.006
18	50278418	T	G	18	52752048	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0537214827783683	0.114
18	50278419	T	A	18	52752049	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.794135599159726	0.506
18	50278419	T	C	18	52752049	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0339369456174253	0.224
18	50278419	T	G	18	52752049	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.537285980612224	0.516
18	50278420	C	A	18	52752050	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.3223051739146E-4	0.012
18	50278420	C	G	18	52752050	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.51060256898079E-4	0.01
18	50278420	C	T	18	52752050	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.06354443091769E-4	0.01
18	50278421	C	A	18	52752051	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.209814082703131	0.466
18	50278421	C	G	18	52752051	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.987742117519156	0.872
18	50278421	C	T	18	52752051	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00979036202699604	0.072
18	50278422	A	C	18	52752052	y	y	splicing	DCC(NM_005215:exon2:c.92-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.92-2A>C)	.	.	0.999988247793601	0.93
18	50278422	A	G	18	52752052	y	y	splicing	DCC(NM_005215:exon2:c.92-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.92-2A>G)	.	.	0.999988247793601	0.93
18	50278422	A	T	18	52752052	y	y	splicing	DCC(NM_005215:exon2:c.92-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.92-2A>T)	.	.	0.999988247793601	0.93
18	50278423	G	A	18	52752053	y	y	splicing	DCC(NM_005215:exon2:c.92-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.92-1G>A)	.	.	0.999990361384395	0.938
18	50278423	G	C	18	52752053	y	y	splicing	DCC(NM_005215:exon2:c.92-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.92-1G>C)	.	.	0.999990361384395	0.938
18	50278423	G	T	18	52752053	y	y	splicing	DCC(NM_005215:exon2:c.92-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.92-1G>T)	.	.	0.999990361384395	0.938
18	50278424	G	A	18	52752054	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon2:c.G92A:p.G31D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.G92A:p.G31D;	0.845516285130071	0.502
18	50278424	G	C	18	52752054	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon2:c.G92C:p.G31A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.G92C:p.G31A;	0.9673905072144	0.784
18	50278424	G	T	18	52752054	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon2:c.G92T:p.G31V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.G92T:p.G31V;	0.979504719667719	0.86
18	50278425	T	A	18	52752055	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon2:c.T93A:p.G31G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.T93A:p.G31G;	0.0014153767619615	0.022
18	50278425	T	C	18	52752055	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon2:c.T93C:p.G31G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.T93C:p.G31G;	0.00219569196750119	0.018
18	50278425	T	G	18	52752055	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon2:c.T93G:p.G31G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.T93G:p.G31G;	0.00465737687899973	0.054
18	50278742	C	A	18	52752372	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon2:c.C410A:p.A137E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.C410A:p.A137E;ENSG00000187323:ENST00000582875:exon1:c.C212A:p.A71E;ENSG00000187323:ENST00000581559:exon1:c.C206A:p.A69E;	0.580877917614008	0.612
18	50278742	C	G	18	52752372	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon2:c.C410G:p.A137G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.C410G:p.A137G;ENSG00000187323:ENST00000582875:exon1:c.C212G:p.A71G;ENSG00000187323:ENST00000581559:exon1:c.C206G:p.A69G;	0.234999244258374	0.5
18	50278742	C	T	18	52752372	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon2:c.C410T:p.A137V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.C410T:p.A137V;ENSG00000187323:ENST00000582875:exon1:c.C212T:p.A71V;ENSG00000187323:ENST00000581559:exon1:c.C206T:p.A69V;	0.97786757920572	0.784
18	50278743	A	C	18	52752373	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon2:c.A411C:p.A137A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.A411C:p.A137A;ENSG00000187323:ENST00000582875:exon1:c.A213C:p.A71A;ENSG00000187323:ENST00000581559:exon1:c.A207C:p.A69A;	0.99754511875989	0.966
18	50278743	A	G	18	52752373	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon2:c.A411G:p.A137A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.A411G:p.A137A;ENSG00000187323:ENST00000582875:exon1:c.A213G:p.A71A;ENSG00000187323:ENST00000581559:exon1:c.A207G:p.A69A;	0.998098496035764	0.98
18	50278743	A	T	18	52752373	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon2:c.A411T:p.A137A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.A411T:p.A137A;ENSG00000187323:ENST00000582875:exon1:c.A213T:p.A71A;ENSG00000187323:ENST00000581559:exon1:c.A207T:p.A69A;	0.999283535579421	0.97
18	50278744	G	A	18	52752374	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon2:c.G412A:p.G138R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.G412A:p.G138R;ENSG00000187323:ENST00000582875:exon1:c.G214A:p.E72K;ENSG00000187323:ENST00000581559:exon1:c.G208A:p.D70N;	0.999659195884982	0.984
18	50278744	G	C	18	52752374	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon2:c.G412C:p.G138R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon2:c.G412C:p.G138R;ENSG00000187323:ENST00000582875:exon1:c.G214C:p.E72Q;ENSG00000187323:ENST00000581559:exon1:c.G208C:p.D70H;	0.999858745384931	0.98
18	50278744	G	T	18	52752374	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon2:c.G412T:p.G138X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000442544:exon2:c.G412T:p.G138X;ENSG00000187323:ENST00000582875:exon1:c.G214T:p.E72X;	0.999966146540853	0.986
18	50278745	G	A	18	52752375	y	y	splicing	DCC(NM_005215:exon2:c.412+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.412+1G>A;ENST00000578080:exon1:c.315+1G>A;ENST00000582875:exon1:c.214+1G>A;ENST00000304775:exon1:c.213+1G>A;ENST00000579349:exon1:c.209+1G>A;ENST00000581559:exon1:c.208+1G>A)	.	.	0.999981760802075	0.932
18	50278745	G	C	18	52752375	y	y	splicing	DCC(NM_005215:exon2:c.412+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.412+1G>C;ENST00000578080:exon1:c.315+1G>C;ENST00000582875:exon1:c.214+1G>C;ENST00000304775:exon1:c.213+1G>C;ENST00000579349:exon1:c.209+1G>C;ENST00000581559:exon1:c.208+1G>C)	.	.	0.999981760802075	0.932
18	50278745	G	T	18	52752375	y	y	splicing	DCC(NM_005215:exon2:c.412+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.412+1G>T;ENST00000578080:exon1:c.315+1G>T;ENST00000582875:exon1:c.214+1G>T;ENST00000304775:exon1:c.213+1G>T;ENST00000579349:exon1:c.209+1G>T;ENST00000581559:exon1:c.208+1G>T)	.	.	0.999981760802075	0.932
18	50278746	T	A	18	52752376	y	y	splicing	DCC(NM_005215:exon2:c.412+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.412+2T>A;ENST00000578080:exon1:c.315+2T>A;ENST00000582875:exon1:c.214+2T>A;ENST00000304775:exon1:c.213+2T>A;ENST00000579349:exon1:c.209+2T>A;ENST00000581559:exon1:c.208+2T>A)	.	.	0.999966203349492	0.928
18	50278746	T	C	18	52752376	y	y	splicing	DCC(NM_005215:exon2:c.412+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.412+2T>C;ENST00000578080:exon1:c.315+2T>C;ENST00000582875:exon1:c.214+2T>C;ENST00000304775:exon1:c.213+2T>C;ENST00000579349:exon1:c.209+2T>C;ENST00000581559:exon1:c.208+2T>C)	.	.	0.987743803343	0.648
18	50278746	T	G	18	52752376	y	y	splicing	DCC(NM_005215:exon2:c.412+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon2:c.412+2T>G;ENST00000578080:exon1:c.315+2T>G;ENST00000582875:exon1:c.214+2T>G;ENST00000304775:exon1:c.213+2T>G;ENST00000579349:exon1:c.209+2T>G;ENST00000581559:exon1:c.208+2T>G)	.	.	0.999966203349492	0.93
18	50278747	A	C	18	52752377	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.47014272189973	0.514
18	50278747	A	G	18	52752377	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00508087128486829	0.118
18	50278747	A	T	18	52752377	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.286209116451657	0.512
18	50278748	G	A	18	52752378	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.12228026246875E-5	0.026
18	50278748	G	C	18	52752378	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.24623408721426E-5	0.004
18	50278748	G	T	18	52752378	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.42626631310085E-5	0.0
18	50278749	G	A	18	52752379	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.88435959205996	0.58
18	50278749	G	C	18	52752379	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.984523277825129	0.802
18	50278749	G	T	18	52752379	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.992938410536879	0.838
18	50278750	T	A	18	52752380	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00561917774338601	0.2
18	50278750	T	C	18	52752380	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00742747582252275	0.208
18	50278750	T	G	18	52752380	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00160312633496459	0.144
18	50278751	G	A	18	52752381	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.41869574448387E-4	0.008
18	50278751	G	C	18	52752381	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.41869574448387E-4	0.008
18	50278751	G	T	18	52752381	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.01298255262944E-4	0.016
18	50278752	G	A	18	52752382	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.69537189164858E-5	0.004
18	50278752	G	C	18	52752382	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.5151475474873E-5	0.0
18	50278752	G	T	18	52752382	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.5151475474873E-5	0.0
18	50285145	T	A	18	52758775	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00283407154605447	0.02
18	50285145	T	C	18	52758775	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00280384487292179	0.03
18	50285145	T	G	18	52758775	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00280384487292179	0.022
18	50285146	T	A	18	52758776	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.02297266011095E-5	0.066
18	50285146	T	C	18	52758776	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.02297266011095E-5	0.068
18	50285146	T	G	18	52758776	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.02297266011095E-5	0.068
18	50285147	C	A	18	52758777	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.08692400722682E-5	0.0
18	50285147	C	G	18	52758777	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.08692400722682E-5	0.0
18	50285147	C	T	18	52758777	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.08692400722682E-5	0.0
18	50285148	T	A	18	52758778	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.53717286515496E-4	0.004
18	50285148	T	C	18	52758778	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.53717286515496E-4	0.032
18	50285148	T	G	18	52758778	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.53717286515496E-4	0.014
18	50285149	C	A	18	52758779	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.92715172066282E-4	0.05
18	50285149	C	G	18	52758779	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.92715172066282E-4	0.05
18	50285149	C	T	18	52758779	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00206586479116936	0.05
18	50285150	T	A	18	52758780	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00101155784817242	0.018
18	50285150	T	C	18	52758780	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00101155784817242	0.016
18	50285150	T	G	18	52758780	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00101155784817242	0.016
18	50285151	C	A	18	52758781	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.18005463794098E-4	0.032
18	50285151	C	G	18	52758781	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.18005463794098E-4	0.032
18	50285151	C	T	18	52758781	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.18005463794098E-4	0.032
18	50285152	T	A	18	52758782	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00101155784817242	0.02
18	50285152	T	C	18	52758782	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00135223469992979	0.058
18	50285152	T	G	18	52758782	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00135223469992979	0.058
18	50285153	A	C	18	52758783	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.99153316237132E-5	0.0
18	50285153	A	G	18	52758783	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.99153316237132E-5	0.0
18	50285153	A	T	18	52758783	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.99153316237132E-5	0.0
18	50285154	C	A	18	52758784	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.26099501344555E-5	0.076
18	50285154	C	G	18	52758784	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.26099501344555E-5	0.076
18	50285154	C	T	18	52758784	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.26099501344555E-5	0.078
18	50285155	A	C	18	52758785	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000578080:exon2:c.316-2A>C)	.	.	2.4631346304159E-5	0.004
18	50285155	A	G	18	52758785	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000578080:exon2:c.316-2A>G)	.	.	2.4631346304159E-5	0.004
18	50285155	A	T	18	52758785	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000578080:exon2:c.316-2A>T)	.	.	2.4631346304159E-5	0.004
18	50285156	G	A	18	52758786	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000578080:exon2:c.316-1G>A)	.	.	9.83188681281962E-5	0.002
18	50285156	G	C	18	52758786	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000578080:exon2:c.316-1G>C)	.	.	9.83188681281962E-5	0.002
18	50285156	G	T	18	52758786	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000578080:exon2:c.316-1G>T)	.	.	9.83188681281962E-5	0.0
18	50285157	G	A	18	52758787	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	2.41306783712467E-4	0.14
18	50285157	G	C	18	52758787	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	2.41306783712467E-4	0.14
18	50285157	G	T	18	52758787	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	1.56233385275944E-4	0.136
18	50285158	A	C	18	52758788	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	0.00101155784817242	0.016
18	50285158	A	G	18	52758788	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	0.00101155784817242	0.016
18	50285158	A	T	18	52758788	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	0.00101155784817242	0.018
18	50335657	T	A	18	52809287	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.10275622159801E-5	0.0
18	50335657	T	C	18	52809287	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.10275622159801E-5	0.0
18	50335657	T	G	18	52809287	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.10275622159801E-5	0.0
18	50335658	G	A	18	52809288	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.63689286877344E-5	0.002
18	50335658	G	C	18	52809288	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.63689286877344E-5	0.01
18	50335658	G	T	18	52809288	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.63689286877344E-5	0.002
18	50335659	T	A	18	52809289	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.68804097905464E-5	0.016
18	50335659	T	C	18	52809289	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.68804097905464E-5	0.014
18	50335659	T	G	18	52809289	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.68804097905464E-5	0.014
18	50335660	T	A	18	52809290	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.14267203131726E-5	0.002
18	50335660	T	C	18	52809290	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.14267203131726E-5	0.002
18	50335660	T	G	18	52809290	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.14267203131726E-5	0.002
18	50335661	A	C	18	52809291	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.68804097905464E-5	0.014
18	50335661	A	G	18	52809291	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.68804097905464E-5	0.014
18	50335661	A	T	18	52809291	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.68804097905464E-5	0.014
18	50335662	C	A	18	52809292	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.32907665821607E-5	0.0
18	50335662	C	G	18	52809292	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.32907665821607E-5	0.0
18	50335662	C	T	18	52809292	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.32907665821607E-5	0.0
18	50335663	T	A	18	52809293	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.42005417025298E-5	0.002
18	50335663	T	C	18	52809293	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.35379928190213E-5	0.0
18	50335663	T	G	18	52809293	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.35379928190213E-5	0.0
18	50335664	G	A	18	52809294	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.86132489708061E-5	0.016
18	50335664	G	C	18	52809294	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.86132489708061E-5	0.004
18	50335664	G	T	18	52809294	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.86132489708061E-5	0.004
18	50335665	A	C	18	52809295	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.95241758590049E-5	0.0
18	50335665	A	G	18	52809295	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.95241758590049E-5	0.0
18	50335665	A	T	18	52809295	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.95241758590049E-5	0.0
18	50335666	C	A	18	52809296	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.39192150166447E-5	0.0
18	50335666	C	G	18	52809296	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.39192150166447E-5	0.0
18	50335666	C	T	18	52809296	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.39192150166447E-5	0.002
18	50335667	A	C	18	52809297	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.210-2A>C)	.	.	1.95241758590049E-5	0.014
18	50335667	A	G	18	52809297	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.210-2A>G)	.	.	1.95241758590049E-5	0.014
18	50335667	A	T	18	52809297	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.210-2A>T)	.	.	1.95241758590049E-5	0.014
18	50335668	G	A	18	52809298	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.210-1G>A)	.	.	3.32651317629065E-5	0.014
18	50335668	G	C	18	52809298	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.210-1G>C)	.	.	3.32651317629065E-5	0.014
18	50335668	G	T	18	52809298	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.210-1G>T)	.	.	3.32651317629065E-5	0.014
18	50335669	G	A	18	52809299	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	2.15358342454107E-5	0.016
18	50335669	G	C	18	52809299	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	2.15358342454107E-5	0.014
18	50335669	G	T	18	52809299	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	2.15358342454107E-5	0.014
18	50335670	T	A	18	52809300	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	1.14267203131726E-5	0.0
18	50335670	T	C	18	52809300	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	1.14267203131726E-5	0.0
18	50335670	T	G	18	52809300	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	unknown	UNKNOWN	1.14267203131726E-5	0.0
18	50335790	G	A	18	52809420	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335790	G	C	18	52809420	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335790	G	T	18	52809420	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335791	T	A	18	52809421	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.63141535133926E-5	0.0
18	50335791	T	C	18	52809421	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.63141535133926E-5	0.0
18	50335791	T	G	18	52809421	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.63141535133926E-5	0.0
18	50335792	G	A	18	52809422	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335792	G	C	18	52809422	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335792	G	T	18	52809422	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335793	G	A	18	52809423	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.333+1G>A)	.	.	4.28766987286446E-5	0.006
18	50335793	G	C	18	52809423	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.333+1G>C)	.	.	1.80635910608335E-5	0.0
18	50335793	G	T	18	52809423	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.333+1G>T)	.	.	3.76304668350645E-5	0.006
18	50335794	T	A	18	52809424	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.333+2T>A)	.	.	6.7395485643605E-5	0.088
18	50335794	T	C	18	52809424	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.333+2T>C)	.	.	6.7395485643605E-5	0.006
18	50335794	T	G	18	52809424	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000579349:exon2:c.333+2T>G)	.	.	6.7395485643605E-5	0.006
18	50335795	G	A	18	52809425	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335795	G	C	18	52809425	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335795	G	T	18	52809425	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335796	A	C	18	52809426	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.70357316916945E-5	0.0
18	50335796	A	G	18	52809426	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.70357316916945E-5	0.0
18	50335796	A	T	18	52809426	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.70357316916945E-5	0.0
18	50335797	G	A	18	52809427	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335797	G	C	18	52809427	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335797	G	T	18	52809427	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335798	T	A	18	52809428	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.30338091304305E-5	0.002
18	50335798	T	C	18	52809428	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.30338091304305E-5	0.002
18	50335798	T	G	18	52809428	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.30338091304305E-5	0.002
18	50335799	G	A	18	52809429	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335799	G	C	18	52809429	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335799	G	T	18	52809429	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08378557604853E-5	0.0
18	50335800	T	A	18	52809430	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.70357316916945E-5	0.0
18	50335800	T	C	18	52809430	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.70357316916945E-5	0.0
18	50335800	T	G	18	52809430	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.70357316916945E-5	0.0
18	50342992	C	A	18	52816622	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.5364181533214E-5	0.0
18	50342992	C	G	18	52816622	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.5364181533214E-5	0.0
18	50342992	C	T	18	52816622	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.5364181533214E-5	0.0
18	50342993	C	A	18	52816623	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.93248123866459E-5	0.012
18	50342993	C	G	18	52816623	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.93248123866459E-5	0.012
18	50342993	C	T	18	52816623	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.07403771358457E-5	0.012
18	50342994	T	A	18	52816624	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.77993525610891E-5	0.0
18	50342994	T	C	18	52816624	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.77993525610891E-5	0.0
18	50342994	T	G	18	52816624	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.77993525610891E-5	0.0
18	50342995	A	C	18	52816625	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.9469183429777E-5	0.0
18	50342995	A	G	18	52816625	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.9469183429777E-5	0.0
18	50342995	A	T	18	52816625	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.9469183429777E-5	0.0
18	50342996	T	A	18	52816626	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.11713759611921E-5	0.008
18	50342996	T	C	18	52816626	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.50552619103442E-5	0.004
18	50342996	T	G	18	52816626	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.50552619103442E-5	0.004
18	50342997	T	A	18	52816627	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.02642503822698E-5	0.04
18	50342997	T	C	18	52816627	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.02642503822698E-5	0.052
18	50342997	T	G	18	52816627	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.02642503822698E-5	0.052
18	50342998	T	A	18	52816628	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.256915070725E-5	0.0
18	50342998	T	C	18	52816628	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.256915070725E-5	0.0
18	50342998	T	G	18	52816628	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.256915070725E-5	0.0
18	50342999	T	A	18	52816629	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.07626055534042E-5	0.02
18	50342999	T	C	18	52816629	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.113491094326E-4	0.02
18	50342999	T	G	18	52816629	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.113491094326E-4	0.02
18	50343000	A	C	18	52816630	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.256915070725E-5	0.0
18	50343000	A	G	18	52816630	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.256915070725E-5	0.0
18	50343000	A	T	18	52816630	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.256915070725E-5	0.0
18	50343001	C	A	18	52816631	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.08523521497565E-5	0.006
18	50343001	C	G	18	52816631	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.08523521497565E-5	0.0
18	50343001	C	T	18	52816631	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.80283194928756E-5	0.002
18	50343002	A	C	18	52816632	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000582875:exon2:c.215-2A>C)	.	.	6.77993525610891E-5	0.0
18	50343002	A	G	18	52816632	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000582875:exon2:c.215-2A>G)	.	.	6.77993525610891E-5	0.0
18	50343002	A	T	18	52816632	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000582875:exon2:c.215-2A>T)	.	.	6.77993525610891E-5	0.0
18	50343003	G	A	18	52816633	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000582875:exon2:c.215-1G>A)	.	.	5.8840742393182E-5	0.002
18	50343003	G	C	18	52816633	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000582875:exon2:c.215-1G>C)	.	.	5.8840742393182E-5	0.002
18	50343003	G	T	18	52816633	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000582875:exon2:c.215-1G>T)	.	.	5.8840742393182E-5	0.002
18	50343004	A	C	18	52816634	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000582875:exon2:c.A215C:p.E72A;	9.54583771157E-5	0.0
18	50343004	A	G	18	52816634	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000582875:exon2:c.A215G:p.E72G;	5.25211152755068E-5	0.0
18	50343004	A	T	18	52816634	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000582875:exon2:c.A215T:p.E72V;	5.25211152755068E-5	0.0
18	50343005	G	A	18	52816635	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000582875:exon2:c.G216A:p.E72E;	2.59802355779309E-5	0.0
18	50343005	G	C	18	52816635	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000582875:exon2:c.G216C:p.E72D;	8.74094660865297E-5	0.0
18	50343005	G	T	18	52816635	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000582875:exon2:c.G216T:p.E72D;	4.80924373634625E-5	0.0
18	50418766	C	A	18	52892396	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00430485311932051	0.024
18	50418766	C	G	18	52892396	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00430485311932051	0.032
18	50418766	C	T	18	52892396	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00622786257598514	0.022
18	50418767	T	A	18	52892397	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.63629494390912E-4	0.018
18	50418767	T	C	18	52892397	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.07841674183357E-4	0.02
18	50418767	T	G	18	52892397	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.07841674183357E-4	0.02
18	50418768	T	A	18	52892398	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.63629494390912E-4	0.04
18	50418768	T	C	18	52892398	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.86867110297081E-4	0.024
18	50418768	T	G	18	52892398	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.07841674183357E-4	0.024
18	50418769	T	A	18	52892399	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.17564447662592E-4	0.0
18	50418769	T	C	18	52892399	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.06520082605731E-4	0.0
18	50418769	T	G	18	52892399	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.06520082605731E-4	0.0
18	50418770	C	A	18	52892400	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.08692400722682E-5	0.006
18	50418770	C	G	18	52892400	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.13951347297017E-5	0.004
18	50418770	C	T	18	52892400	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.08692400722682E-5	0.0
18	50418771	T	A	18	52892401	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.69139258148902E-4	0.052
18	50418771	T	C	18	52892401	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.30633559019106E-5	0.058
18	50418771	T	G	18	52892401	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.30633559019106E-5	0.058
18	50418772	T	A	18	52892402	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.14301101535901E-5	0.0
18	50418772	T	C	18	52892402	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.14301101535901E-5	0.002
18	50418772	T	G	18	52892402	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.14301101535901E-5	0.0
18	50418773	C	A	18	52892403	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.7749166663215E-5	0.036
18	50418773	C	G	18	52892403	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.7749166663215E-5	0.002
18	50418773	C	T	18	52892403	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.57076726553018E-5	0.0
18	50418774	T	A	18	52892404	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.50552619103442E-5	0.002
18	50418774	T	C	18	52892404	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.50552619103442E-5	0.002
18	50418774	T	G	18	52892404	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.50552619103442E-5	0.0
18	50418775	C	A	18	52892405	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.67406312561927E-6	0.004
18	50418775	C	G	18	52892405	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.67406312561927E-6	0.0
18	50418775	C	T	18	52892405	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.67406312561927E-6	0.0
18	50418776	A	C	18	52892406	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.209-2A>C)	.	.	6.47413882681639E-5	0.0
18	50418776	A	G	18	52892406	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.209-2A>G)	.	.	6.47413882681639E-5	0.0
18	50418776	A	T	18	52892406	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.209-2A>T)	.	.	6.47413882681639E-5	0.0
18	50418777	G	A	18	52892407	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.209-1G>A)	.	.	5.04349982970396E-5	0.002
18	50418777	G	C	18	52892407	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.209-1G>C)	.	.	6.08692400722682E-5	0.002
18	50418777	G	T	18	52892407	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.209-1G>T)	.	.	5.04349982970396E-5	0.002
18	50418778	A	C	18	52892408	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581559:exon2:c.A209C:p.D70A;	8.67378569920084E-5	0.036
18	50418778	A	G	18	52892408	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581559:exon2:c.A209G:p.D70G;	8.67378569920084E-5	0.034
18	50418778	A	T	18	52892408	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581559:exon2:c.A209T:p.D70V;	8.67378569920084E-5	0.036
18	50418779	C	A	18	52892409	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581559:exon2:c.C210A:p.D70E;	8.06173808797179E-5	0.0
18	50418779	C	G	18	52892409	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581559:exon2:c.C210G:p.D70E;	8.06173808797179E-5	0.0
18	50418779	C	T	18	52892409	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581559:exon2:c.C210T:p.D70D;	2.81952210255558E-5	0.002
18	50418900	G	A	18	52892530	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	4.35850852071674E-5	0.0
18	50418900	G	C	18	52892530	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	9.56058489670908E-5	0.0
18	50418900	G	T	18	52892530	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	9.56058489670908E-5	0.0
18	50418901	G	A	18	52892531	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	9.27237026149931E-5	0.002
18	50418901	G	C	18	52892531	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	1.23990001900786E-4	0.0
18	50418901	G	T	18	52892531	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	1.23990001900786E-4	0.006
18	50418902	A	C	18	52892532	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	4.90028566392549E-5	0.002
18	50418902	A	G	18	52892532	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	4.90028566392549E-5	0.002
18	50418902	A	T	18	52892532	n	y	intronic	DCC	.	.	UTR5;UTR3	ENSG00000187323;ENSG00000187323	.	.	4.90028566392549E-5	0.002
18	50418903	G	A	18	52892533	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.333+1G>A)	.	.	5.93085172497117E-5	0.002
18	50418903	G	C	18	52892533	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.333+1G>C)	.	.	7.93081577367743E-5	0.008
18	50418903	G	T	18	52892533	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.333+1G>T)	.	.	7.93081577367743E-5	0.036
18	50418904	T	A	18	52892534	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.333+2T>A)	.	.	4.54404724015672E-5	0.0
18	50418904	T	C	18	52892534	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.333+2T>C)	.	.	8.25896182624293E-5	0.0
18	50418904	T	G	18	52892534	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581559:exon2:c.333+2T>G)	.	.	8.25896182624293E-5	0.0
18	50418905	A	C	18	52892535	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.59660858139777E-5	0.0
18	50418905	A	G	18	52892535	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.59660858139777E-5	0.0
18	50418905	A	T	18	52892535	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.46619449921589E-5	0.0
18	50418906	A	C	18	52892536	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.48958040212133E-5	0.0
18	50418906	A	G	18	52892536	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.48958040212133E-5	0.0
18	50418906	A	T	18	52892536	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.61519447052934E-5	0.0
18	50418907	G	A	18	52892537	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.1548255067557E-5	0.0
18	50418907	G	C	18	52892537	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.1548255067557E-5	0.0
18	50418907	G	T	18	52892537	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.1548255067557E-5	0.0
18	50418908	T	A	18	52892538	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.44913943321711E-5	0.0
18	50418908	T	C	18	52892538	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.44913943321711E-5	0.0
18	50418908	T	G	18	52892538	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.44913943321711E-5	0.0
18	50418909	A	C	18	52892539	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.44656497212392E-5	0.002
18	50418909	A	G	18	52892539	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.44656497212392E-5	0.002
18	50418909	A	T	18	52892539	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.85062238621114E-5	0.002
18	50418910	C	A	18	52892540	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.32510510707312E-5	0.0
18	50418910	C	G	18	52892540	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.1548255067557E-5	0.0
18	50418910	C	T	18	52892540	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.84368244779743E-5	0.002
18	50432402	T	A	18	52906032	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.04809570543331E-4	0.052
18	50432402	T	C	18	52906032	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.65802895923103E-4	0.018
18	50432402	T	G	18	52906032	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.78316781168428E-5	0.072
18	50432403	T	A	18	52906033	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.70802250928618E-4	0.122
18	50432403	T	C	18	52906033	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.76630521571089E-5	0.034
18	50432403	T	G	18	52906033	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.74823123039505E-5	0.188
18	50432404	T	A	18	52906034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.49799480651734E-4	0.088
18	50432404	T	C	18	52906034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.49746939749551E-4	0.01
18	50432404	T	G	18	52906034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.92158829171315E-4	0.068
18	50432405	T	A	18	52906035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.75771039172381E-4	0.196
18	50432405	T	C	18	52906035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.12220839043903E-4	0.016
18	50432405	T	G	18	52906035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00207099418070762	0.212
18	50432406	T	A	18	52906036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.46463458797265E-4	0.036
18	50432406	T	C	18	52906036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.21433430550225E-4	0.0
18	50432406	T	G	18	52906036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.91154076291389E-4	0.048
18	50432407	C	A	18	52906037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00146175208681468	0.136
18	50432407	C	G	18	52906037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.46966287980506E-4	0.09
18	50432407	C	T	18	52906037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.29969368004098E-4	0.036
18	50432408	T	A	18	52906038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.81053021903954E-5	0.02
18	50432408	T	C	18	52906038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.10589248525094E-5	0.0
18	50432408	T	G	18	52906038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.20257927446561E-4	0.092
18	50432409	C	A	18	52906039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.2025343189997E-4	0.004
18	50432409	C	G	18	52906039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.49340974845999E-4	0.012
18	50432409	C	T	18	52906039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.23217542415092E-5	0.0
18	50432410	C	A	18	52906040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.15928691961172E-4	0.002
18	50432410	C	G	18	52906040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.19370846127267E-4	0.008
18	50432410	C	T	18	52906040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.3261604571533E-4	0.008
18	50432411	T	A	18	52906041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00134529116927018	0.142
18	50432411	T	C	18	52906041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.71976745920367E-5	0.008
18	50432411	T	G	18	52906041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.302611492420023	0.55
18	50432412	A	C	18	52906042	y	y	splicing	DCC(NM_005215:exon3:c.413-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.413-2A>C;ENST00000304775:exon2:c.214-2A>C;ENST00000579349:exon3:c.334-2A>C;ENST00000581559:exon3:c.334-2A>C)	.	.	0.999988247793601	0.928
18	50432412	A	G	18	52906042	y	y	splicing	DCC(NM_005215:exon3:c.413-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.413-2A>G;ENST00000304775:exon2:c.214-2A>G;ENST00000579349:exon3:c.334-2A>G;ENST00000581559:exon3:c.334-2A>G)	.	.	0.999988247793601	0.928
18	50432412	A	T	18	52906042	y	y	splicing	DCC(NM_005215:exon3:c.413-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.413-2A>T;ENST00000304775:exon2:c.214-2A>T;ENST00000579349:exon3:c.334-2A>T;ENST00000581559:exon3:c.334-2A>T)	.	.	0.999988247793601	0.928
18	50432413	G	A	18	52906043	y	y	splicing	DCC(NM_005215:exon3:c.413-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.413-1G>A;ENST00000304775:exon2:c.214-1G>A;ENST00000579349:exon3:c.334-1G>A;ENST00000581559:exon3:c.334-1G>A)	.	.	0.999985532734767	0.936
18	50432413	G	C	18	52906043	y	y	splicing	DCC(NM_005215:exon3:c.413-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.413-1G>C;ENST00000304775:exon2:c.214-1G>C;ENST00000579349:exon3:c.334-1G>C;ENST00000581559:exon3:c.334-1G>C)	.	.	0.999985532734767	0.936
18	50432413	G	T	18	52906043	y	y	splicing	DCC(NM_005215:exon3:c.413-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.413-1G>T;ENST00000304775:exon2:c.214-1G>T;ENST00000579349:exon3:c.334-1G>T;ENST00000581559:exon3:c.334-1G>T)	.	.	0.999985532734767	0.936
18	50432414	G	A	18	52906044	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon3:c.G413A:p.G138E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.G413A:p.G138E;	0.997115618362474	0.74
18	50432414	G	C	18	52906044	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon3:c.G413C:p.G138A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.G413C:p.G138A;	0.992927948391621	0.844
18	50432414	G	T	18	52906044	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon3:c.G413T:p.G138V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.G413T:p.G138V;	0.996549009200373	0.858
18	50432415	A	C	18	52906045	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon3:c.A414C:p.G138G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.A414C:p.G138G;	4.12245180573524E-4	0.024
18	50432415	A	G	18	52906045	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon3:c.A414G:p.G138G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.A414G:p.G138G;	2.45281017395652E-4	0.014
18	50432415	A	T	18	52906045	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon3:c.A414T:p.G138G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.A414T:p.G138G;	6.17565382464689E-5	0.002
18	50432696	C	A	18	52906326	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon3:c.C695A:p.S232X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000442544:exon3:c.C695A:p.S232X;ENSG00000187323:ENST00000412726:exon3:c.C239A:p.S80X;	0.979468594552549	0.674
18	50432696	C	G	18	52906326	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon3:c.C695G:p.S232X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000442544:exon3:c.C695G:p.S232X;ENSG00000187323:ENST00000412726:exon3:c.C239G:p.S80X;	0.989189081665191	0.708
18	50432696	C	T	18	52906326	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon3:c.C695T:p.S232L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.C695T:p.S232L;ENSG00000187323:ENST00000412726:exon3:c.C239T:p.S80L;	0.999902862966389	0.984
18	50432697	A	C	18	52906327	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon3:c.A696C:p.S232S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.A696C:p.S232S;ENSG00000187323:ENST00000412726:exon3:c.A240C:p.S80S;	0.999797912617838	0.992
18	50432697	A	G	18	52906327	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon3:c.A696G:p.S232S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.A696G:p.S232S;ENSG00000187323:ENST00000412726:exon3:c.A240G:p.S80S;	0.999713564540478	0.994
18	50432697	A	T	18	52906327	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon3:c.A696T:p.S232S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.A696T:p.S232S;ENSG00000187323:ENST00000412726:exon3:c.A240T:p.S80S;	0.999910488540865	0.994
18	50432698	G	A	18	52906328	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon3:c.G697A:p.D233N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.G697A:p.D233N;ENSG00000187323:ENST00000412726:exon3:c.G241A:p.D81N;	0.999990979113977	1.0
18	50432698	G	C	18	52906328	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon3:c.G697C:p.D233H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.G697C:p.D233H;ENSG00000187323:ENST00000412726:exon3:c.G241C:p.D81H;	0.999990078321879	0.996
18	50432698	G	T	18	52906328	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon3:c.G697T:p.D233Y;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon3:c.G697T:p.D233Y;ENSG00000187323:ENST00000412726:exon3:c.G241T:p.D81Y;	0.999981240769499	1.0
18	50432699	G	A	18	52906329	y	y	splicing	DCC(NM_005215:exon3:c.697+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.697+1G>A;ENST00000304775:exon2:c.498+1G>A;ENST00000412726:exon3:c.241+1G>A)	.	.	0.999990361384395	0.952
18	50432699	G	C	18	52906329	y	y	splicing	DCC(NM_005215:exon3:c.697+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.697+1G>C;ENST00000304775:exon2:c.498+1G>C;ENST00000412726:exon3:c.241+1G>C)	.	.	0.999990361384395	0.952
18	50432699	G	T	18	52906329	y	y	splicing	DCC(NM_005215:exon3:c.697+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.697+1G>T;ENST00000304775:exon2:c.498+1G>T;ENST00000412726:exon3:c.241+1G>T)	.	.	0.999990361384395	0.952
18	50432700	T	A	18	52906330	y	y	splicing	DCC(NM_005215:exon3:c.697+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.697+2T>A;ENST00000304775:exon2:c.498+2T>A;ENST00000412726:exon3:c.241+2T>A)	.	.	0.999988247793601	0.954
18	50432700	T	C	18	52906330	y	y	splicing	DCC(NM_005215:exon3:c.697+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.697+2T>C;ENST00000304775:exon2:c.498+2T>C;ENST00000412726:exon3:c.241+2T>C)	.	.	0.994731650058242	0.71
18	50432700	T	G	18	52906330	y	y	splicing	DCC(NM_005215:exon3:c.697+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon3:c.697+2T>G;ENST00000304775:exon2:c.498+2T>G;ENST00000412726:exon3:c.241+2T>G)	.	.	0.999988247793601	0.954
18	50432701	A	C	18	52906331	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999953749610841	0.966
18	50432701	A	G	18	52906331	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999763148661391	0.928
18	50432701	A	T	18	52906331	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999941421682588	0.98
18	50432702	T	A	18	52906332	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.29754608978081E-4	0.066
18	50432702	T	C	18	52906332	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.2250036478399E-4	0.088
18	50432702	T	G	18	52906332	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.58681722809574E-4	0.034
18	50432703	T	A	18	52906333	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.76745746411671E-5	0.008
18	50432703	T	C	18	52906333	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.26526376877077E-5	0.0
18	50432703	T	G	18	52906333	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.82383320438799E-5	0.002
18	50432704	G	A	18	52906334	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.45407986947111E-4	0.0
18	50432704	G	C	18	52906334	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.7488759869334E-4	0.024
18	50432704	G	T	18	52906334	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.83270470184298E-5	0.026
18	50432705	C	A	18	52906335	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.24482244207168E-4	0.018
18	50432705	C	G	18	52906335	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.96406839691872E-4	0.0
18	50432705	C	T	18	52906335	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.47639119584224E-4	0.034
18	50432706	A	C	18	52906336	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.92170787313292E-5	0.0
18	50432706	A	G	18	52906336	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.70774150980076E-5	0.0
18	50432706	A	T	18	52906336	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.70774150980076E-5	0.0
18	50450065	T	A	18	52923695	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00168980371073034	0.218
18	50450065	T	C	18	52923695	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.22059048091069E-4	0.016
18	50450065	T	G	18	52923695	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00109181045238166	0.176
18	50450066	T	A	18	52923696	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0241557874683663	0.356
18	50450066	T	C	18	52923696	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00565931320313384	0.06
18	50450066	T	G	18	52923696	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0170125734170186	0.246
18	50450067	C	A	18	52923697	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.85913611008363E-5	0.014
18	50450067	C	G	18	52923697	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.70635695312833E-5	0.018
18	50450067	C	T	18	52923697	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.27548350319013E-5	0.004
18	50450068	C	A	18	52923698	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.55476838368252E-5	0.002
18	50450068	C	G	18	52923698	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.33091581633362E-5	0.014
18	50450068	C	T	18	52923698	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.49928645186824E-5	0.002
18	50450069	C	A	18	52923699	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.24237317705539E-5	0.026
18	50450069	C	G	18	52923699	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.80621609967815E-5	0.014
18	50450069	C	T	18	52923699	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.81588312705537E-5	0.002
18	50450070	C	A	18	52923700	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.11646833632483E-5	0.016
18	50450070	C	G	18	52923700	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.11646833632483E-5	0.002
18	50450070	C	T	18	52923700	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.64385317602487E-5	0.0
18	50450071	T	A	18	52923701	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.15526084090245E-4	0.014
18	50450071	T	C	18	52923701	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.645626069809E-5	0.0
18	50450071	T	G	18	52923701	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.31603866158061E-4	0.126
18	50450072	C	A	18	52923702	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.35866808982472E-4	0.028
18	50450072	C	G	18	52923702	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.34611004204011E-4	0.028
18	50450072	C	T	18	52923702	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.29827313442406E-5	0.0
18	50450073	A	C	18	52923703	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.22829288932401E-4	0.006
18	50450073	A	G	18	52923703	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.05409613745848E-4	0.008
18	50450073	A	T	18	52923703	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.49715783348603E-4	0.01
18	50450074	T	A	18	52923704	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00539317723445288	0.166
18	50450074	T	C	18	52923704	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.3475349787902E-5	0.012
18	50450074	T	G	18	52923704	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.993806459887418	0.674
18	50450075	A	C	18	52923705	y	y	splicing	DCC(NM_005215:exon4:c.698-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.698-2A>C;ENST00000304775:exon3:c.499-2A>C;ENST00000412726:exon4:c.242-2A>C)	.	.	0.99994568797423	0.944
18	50450075	A	G	18	52923705	y	y	splicing	DCC(NM_005215:exon4:c.698-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.698-2A>G;ENST00000304775:exon3:c.499-2A>G;ENST00000412726:exon4:c.242-2A>G)	.	.	0.99994568797423	0.944
18	50450075	A	T	18	52923705	y	y	splicing	DCC(NM_005215:exon4:c.698-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.698-2A>T;ENST00000304775:exon3:c.499-2A>T;ENST00000412726:exon4:c.242-2A>T)	.	.	0.99994568797423	0.94
18	50450076	G	A	18	52923706	y	y	splicing	DCC(NM_005215:exon4:c.698-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.698-1G>A;ENST00000304775:exon3:c.499-1G>A;ENST00000412726:exon4:c.242-1G>A)	.	.	0.99993314117114	0.932
18	50450076	G	C	18	52923706	y	y	splicing	DCC(NM_005215:exon4:c.698-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.698-1G>C;ENST00000304775:exon3:c.499-1G>C;ENST00000412726:exon4:c.242-1G>C)	.	.	0.99993314117114	0.944
18	50450076	G	T	18	52923706	y	y	splicing	DCC(NM_005215:exon4:c.698-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.698-1G>T;ENST00000304775:exon3:c.499-1G>T;ENST00000412726:exon4:c.242-1G>T)	.	.	0.99993314117114	0.936
18	50450077	A	C	18	52923707	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.A698C:p.D233A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.A698C:p.D233A;ENSG00000187323:ENST00000412726:exon4:c.A242C:p.D81A;	0.0146477052543755	0.106
18	50450077	A	G	18	52923707	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.A698G:p.D233G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.A698G:p.D233G;ENSG00000187323:ENST00000412726:exon4:c.A242G:p.D81G;	0.001412679181125	0.008
18	50450077	A	T	18	52923707	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.A698T:p.D233V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.A698T:p.D233V;ENSG00000187323:ENST00000412726:exon4:c.A242T:p.D81V;	0.00748681608338417	0.12
18	50450078	T	A	18	52923708	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.T699A:p.D233E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.T699A:p.D233E;ENSG00000187323:ENST00000412726:exon4:c.T243A:p.D81E;	1.08432647364401E-4	0.006
18	50450078	T	C	18	52923708	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon4:c.T699C:p.D233D;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.T699C:p.D233D;ENSG00000187323:ENST00000412726:exon4:c.T243C:p.D81D;	9.50382769143095E-5	0.012
18	50450078	T	G	18	52923708	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.T699G:p.D233E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.T699G:p.D233E;ENSG00000187323:ENST00000412726:exon4:c.T243G:p.D81E;	1.19114611876288E-4	0.006
18	50450225	C	A	18	52923855	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon4:c.C846A:p.L282L;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.C846A:p.L282L;ENSG00000187323:ENST00000412726:exon4:c.C390A:p.L130L;	0.872701772373285	0.754
18	50450225	C	G	18	52923855	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon4:c.C846G:p.L282L;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.C846G:p.L282L;ENSG00000187323:ENST00000412726:exon4:c.C390G:p.L130L;	0.950782096047002	0.58
18	50450225	C	T	18	52923855	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon4:c.C846T:p.L282L;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.C846T:p.L282L;ENSG00000187323:ENST00000412726:exon4:c.C390T:p.L130L;	0.999375060155011	0.918
18	50450226	A	C	18	52923856	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon4:c.A847C:p.R283R;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.A847C:p.R283R;ENSG00000187323:ENST00000412726:exon4:c.A391C:p.R131R;	0.998575080404352	0.962
18	50450226	A	G	18	52923856	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.A847G:p.R283G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.A847G:p.R283G;ENSG00000187323:ENST00000412726:exon4:c.A391G:p.R131G;	0.986205629451542	0.864
18	50450226	A	T	18	52923856	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.A847T:p.R283W;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.A847T:p.R283W;ENSG00000187323:ENST00000412726:exon4:c.A391T:p.R131W;	0.987271400809002	0.776
18	50450227	G	A	18	52923857	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.G848A:p.R283K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.G848A:p.R283K;ENSG00000187323:ENST00000412726:exon4:c.G392A:p.R131K;	0.999985385477694	1.0
18	50450227	G	C	18	52923857	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.G848C:p.R283T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.G848C:p.R283T;ENSG00000187323:ENST00000412726:exon4:c.G392C:p.R131T;	0.999989018164681	1.0
18	50450227	G	T	18	52923857	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon4:c.G848T:p.R283M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon4:c.G848T:p.R283M;ENSG00000187323:ENST00000412726:exon4:c.G392T:p.R131M;	0.99995808399413	1.0
18	50450228	G	A	18	52923858	y	y	splicing	DCC(NM_005215:exon4:c.848+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.848+1G>A;ENST00000304775:exon3:c.649+1G>A;ENST00000412726:exon4:c.392+1G>A)	.	.	0.999990361384395	0.948
18	50450228	G	C	18	52923858	y	y	splicing	DCC(NM_005215:exon4:c.848+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.848+1G>C;ENST00000304775:exon3:c.649+1G>C;ENST00000412726:exon4:c.392+1G>C)	.	.	0.999990361384395	0.94
18	50450228	G	T	18	52923858	y	y	splicing	DCC(NM_005215:exon4:c.848+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.848+1G>T;ENST00000304775:exon3:c.649+1G>T;ENST00000412726:exon4:c.392+1G>T)	.	.	0.999990361384395	0.948
18	50450229	T	A	18	52923859	y	y	splicing	DCC(NM_005215:exon4:c.848+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.848+2T>A;ENST00000304775:exon3:c.649+2T>A;ENST00000412726:exon4:c.392+2T>A)	.	.	0.99994568797423	0.944
18	50450229	T	C	18	52923859	y	y	splicing	DCC(NM_005215:exon4:c.848+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.848+2T>C;ENST00000304775:exon3:c.649+2T>C;ENST00000412726:exon4:c.392+2T>C)	.	.	0.952527091078767	0.682
18	50450229	T	G	18	52923859	y	y	splicing	DCC(NM_005215:exon4:c.848+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon4:c.848+2T>G;ENST00000304775:exon3:c.649+2T>G;ENST00000412726:exon4:c.392+2T>G)	.	.	0.99994568797423	0.956
18	50450230	A	C	18	52923860	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999300879639689	0.906
18	50450230	A	G	18	52923860	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.985393131079594	0.838
18	50450230	A	T	18	52923860	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99197842543894	0.85
18	50450231	T	A	18	52923861	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.25929935731795E-5	0.026
18	50450231	T	C	18	52923861	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.32076776502357E-5	0.0
18	50450231	T	G	18	52923861	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.03978095904969E-5	0.01
18	50450232	T	A	18	52923862	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.03946037440299E-4	0.02
18	50450232	T	C	18	52923862	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.30224457122591E-4	0.014
18	50450232	T	G	18	52923862	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.31670865679327E-4	0.032
18	50450233	T	A	18	52923863	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00171423123299379	0.082
18	50450233	T	C	18	52923863	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00205986481498563	0.122
18	50450233	T	G	18	52923863	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.44595473734898E-5	0.126
18	50450234	C	A	18	52923864	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.47546718501869E-4	0.094
18	50450234	C	G	18	52923864	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.94547223063724E-4	0.044
18	50450234	C	T	18	52923864	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00236033566246696	0.216
18	50450235	A	C	18	52923865	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.76797628575239E-4	0.006
18	50450235	A	G	18	52923865	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00104266565064077	0.182
18	50450235	A	T	18	52923865	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.87459050650407E-4	0.008
18	50451592	T	A	18	52925222	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.957384531957911	0.578
18	50451592	T	C	18	52925222	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0189155879664615	0.066
18	50451592	T	G	18	52925222	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.889043047436429	0.632
18	50451593	A	C	18	52925223	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.41924446463007E-4	0.0
18	50451593	A	G	18	52925223	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.5947921193532E-4	0.004
18	50451593	A	T	18	52925223	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.28714720742657E-4	0.076
18	50451594	T	A	18	52925224	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999961797072158	0.964
18	50451594	T	C	18	52925224	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.421880651034867	0.316
18	50451594	T	G	18	52925224	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999923073348359	0.956
18	50451595	G	A	18	52925225	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.53688484774585E-5	0.07
18	50451595	G	C	18	52925225	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.75914283779777E-5	0.042
18	50451595	G	T	18	52925225	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.6226413284845E-5	0.01
18	50451596	T	A	18	52925226	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.035644667099543	0.254
18	50451596	T	C	18	52925226	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.21935189163011E-4	0.004
18	50451596	T	G	18	52925226	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0972964341197309	0.332
18	50451597	C	A	18	52925227	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0075594763951441	0.106
18	50451597	C	G	18	52925227	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00624315410242889	0.106
18	50451597	C	T	18	52925227	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.4553685814977E-4	0.02
18	50451598	T	A	18	52925228	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998526017712445	0.856
18	50451598	T	C	18	52925228	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.726790602618266	0.516
18	50451598	T	G	18	52925228	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998933703660279	0.846
18	50451599	T	A	18	52925229	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999878314487276	0.914
18	50451599	T	C	18	52925229	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00107850795220626	0.042
18	50451599	T	G	18	52925229	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.572920470001416	0.604
18	50451600	G	A	18	52925230	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.10058375123062E-5	0.048
18	50451600	G	C	18	52925230	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.17120085053212E-5	0.002
18	50451600	G	T	18	52925230	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.35006688573199E-5	0.008
18	50451601	C	A	18	52925231	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.60421907337322	0.622
18	50451601	C	G	18	52925231	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999655876922977	0.962
18	50451601	C	T	18	52925231	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00250196248371146	0.162
18	50451602	A	C	18	52925232	y	y	splicing	DCC(NM_005215:exon5:c.849-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.849-2A>C;ENST00000304775:exon4:c.650-2A>C;ENST00000412726:exon5:c.393-2A>C)	.	.	0.999992446697775	0.928
18	50451602	A	G	18	52925232	y	y	splicing	DCC(NM_005215:exon5:c.849-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.849-2A>G;ENST00000304775:exon4:c.650-2A>G;ENST00000412726:exon5:c.393-2A>G)	.	.	0.999992446697775	0.928
18	50451602	A	T	18	52925232	y	y	splicing	DCC(NM_005215:exon5:c.849-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.849-2A>T;ENST00000304775:exon4:c.650-2A>T;ENST00000412726:exon5:c.393-2A>T)	.	.	0.999992446697775	0.928
18	50451603	G	A	18	52925233	y	y	splicing	DCC(NM_005215:exon5:c.849-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.849-1G>A;ENST00000304775:exon4:c.650-1G>A;ENST00000412726:exon5:c.393-1G>A)	.	.	0.999990361384395	0.926
18	50451603	G	C	18	52925233	y	y	splicing	DCC(NM_005215:exon5:c.849-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.849-1G>C;ENST00000304775:exon4:c.650-1G>C;ENST00000412726:exon5:c.393-1G>C)	.	.	0.999990361384395	0.924
18	50451603	G	T	18	52925233	y	y	splicing	DCC(NM_005215:exon5:c.849-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.849-1G>T;ENST00000304775:exon4:c.650-1G>T;ENST00000412726:exon5:c.393-1G>T)	.	.	0.999990361384395	0.926
18	50451604	G	A	18	52925234	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon5:c.G849A:p.R283R;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G849A:p.R283R;ENSG00000187323:ENST00000412726:exon5:c.G393A:p.R131R;	0.997196208720263	0.752
18	50451604	G	C	18	52925234	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.G849C:p.R283S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G849C:p.R283S;ENSG00000187323:ENST00000412726:exon5:c.G393C:p.R131S;	0.988253147064757	0.866
18	50451604	G	T	18	52925234	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.G849T:p.R283S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G849T:p.R283S;ENSG00000187323:ENST00000412726:exon5:c.G393T:p.R131S;	0.974655769586378	0.862
18	50451605	T	A	18	52925235	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.T850A:p.S284T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.T850A:p.S284T;ENSG00000187323:ENST00000412726:exon5:c.T394A:p.S132T;	0.0561727206916411	0.14
18	50451605	T	C	18	52925235	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.T850C:p.S284P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.T850C:p.S284P;ENSG00000187323:ENST00000412726:exon5:c.T394C:p.S132P;	0.11886211472677	0.21
18	50451605	T	G	18	52925235	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.T850G:p.S284A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.T850G:p.S284A;ENSG00000187323:ENST00000412726:exon5:c.T394G:p.S132A;	0.068109408932669	0.19
18	50451738	T	A	18	52925368	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon5:c.T983A:p.L328X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000442544:exon5:c.T983A:p.L328X;ENSG00000187323:ENST00000412726:exon5:c.T527A:p.L176X;	0.777161467830571	0.732
18	50451738	T	C	18	52925368	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.T983C:p.L328S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.T983C:p.L328S;ENSG00000187323:ENST00000412726:exon5:c.T527C:p.L176S;	0.0298966989230942	0.236
18	50451738	T	G	18	52925368	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.T983G:p.L328W;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.T983G:p.L328W;ENSG00000187323:ENST00000412726:exon5:c.T527G:p.L176W;	0.0998928835802112	0.352
18	50451739	G	A	18	52925369	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon5:c.G984A:p.L328L;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G984A:p.L328L;ENSG00000187323:ENST00000412726:exon5:c.G528A:p.L176L;	0.781318391134626	0.444
18	50451739	G	C	18	52925369	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.G984C:p.L328F;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G984C:p.L328F;ENSG00000187323:ENST00000412726:exon5:c.G528C:p.L176F;	0.0727189543524889	0.156
18	50451739	G	T	18	52925369	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.G984T:p.L328F;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G984T:p.L328F;ENSG00000187323:ENST00000412726:exon5:c.G528T:p.L176F;	0.07382557736792	0.2
18	50451740	G	A	18	52925370	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.G985A:p.V329I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G985A:p.V329I;ENSG00000187323:ENST00000412726:exon5:c.G529A:p.V177I;	0.999964598363834	0.976
18	50451740	G	C	18	52925370	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.G985C:p.V329L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G985C:p.V329L;ENSG00000187323:ENST00000412726:exon5:c.G529C:p.V177L;	0.999933997545378	0.968
18	50451740	G	T	18	52925370	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon5:c.G985T:p.V329F;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon5:c.G985T:p.V329F;ENSG00000187323:ENST00000412726:exon5:c.G529T:p.V177F;	0.999608161226186	0.928
18	50451741	G	A	18	52925371	y	y	splicing	DCC(NM_005215:exon5:c.985+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.985+1G>A;ENST00000304775:exon4:c.786+1G>A;ENST00000412726:exon5:c.529+1G>A)	.	.	0.999989072007339	0.934
18	50451741	G	C	18	52925371	y	y	splicing	DCC(NM_005215:exon5:c.985+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.985+1G>C;ENST00000304775:exon4:c.786+1G>C;ENST00000412726:exon5:c.529+1G>C)	.	.	0.999989072007339	0.934
18	50451741	G	T	18	52925371	y	y	splicing	DCC(NM_005215:exon5:c.985+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.985+1G>T;ENST00000304775:exon4:c.786+1G>T;ENST00000412726:exon5:c.529+1G>T)	.	.	0.999989072007339	0.934
18	50451742	T	A	18	52925372	y	y	splicing	DCC(NM_005215:exon5:c.985+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.985+2T>A;ENST00000304775:exon4:c.786+2T>A;ENST00000412726:exon5:c.529+2T>A)	.	.	0.999988247793601	0.932
18	50451742	T	C	18	52925372	y	y	splicing	DCC(NM_005215:exon5:c.985+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.985+2T>C;ENST00000304775:exon4:c.786+2T>C;ENST00000412726:exon5:c.529+2T>C)	.	.	0.996218475494576	0.676
18	50451742	T	G	18	52925372	y	y	splicing	DCC(NM_005215:exon5:c.985+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon5:c.985+2T>G;ENST00000304775:exon4:c.786+2T>G;ENST00000412726:exon5:c.529+2T>G)	.	.	0.999988247793601	0.932
18	50451743	A	C	18	52925373	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997177565935263	0.918
18	50451743	A	G	18	52925373	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0662636820031557	0.242
18	50451743	A	T	18	52925373	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998616104513915	0.878
18	50451744	A	C	18	52925374	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997716654695824	0.87
18	50451744	A	G	18	52925374	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99793438682706	0.918
18	50451744	A	T	18	52925374	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998496137318403	0.838
18	50451745	G	A	18	52925375	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999827450454527	0.972
18	50451745	G	C	18	52925375	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999711999948553	0.982
18	50451745	G	T	18	52925375	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999688318960943	0.884
18	50451746	T	A	18	52925376	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.487060627484931	0.406
18	50451746	T	C	18	52925376	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.344040252598103	0.374
18	50451746	T	G	18	52925376	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.112634890797316	0.35
18	50451747	T	A	18	52925377	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.07014835428848E-5	0.0
18	50451747	T	C	18	52925377	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.07014835428848E-5	0.0
18	50451747	T	G	18	52925377	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.35428655471156E-5	0.0
18	50451748	A	C	18	52925378	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.64745399314608E-5	0.002
18	50451748	A	G	18	52925378	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.27134770067358E-5	0.0
18	50451748	A	T	18	52925378	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.69439264402225E-5	0.002
18	50461258	C	A	18	52934888	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.87872098031522E-5	0.0
18	50461258	C	G	18	52934888	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.87872098031522E-5	0.0
18	50461258	C	T	18	52934888	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.87872098031522E-5	0.0
18	50461259	T	A	18	52934889	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	5.82374938169169E-5	0.006
18	50461259	T	C	18	52934889	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	3.78864525412067E-5	0.0
18	50461259	T	G	18	52934889	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.08802802279601E-5	0.0
18	50461260	G	A	18	52934890	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.22788067510469E-5	0.0
18	50461260	G	C	18	52934890	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	5.65361214020652E-5	0.02
18	50461260	G	T	18	52934890	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.22788067510469E-5	0.0
18	50461261	G	A	18	52934891	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	1.08788427788342E-5	0.0
18	50461261	G	C	18	52934891	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	7.04290327727273E-6	0.012
18	50461261	G	T	18	52934891	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	7.04290327727273E-6	0.0
18	50461262	T	A	18	52934892	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	4.14301101535901E-5	0.0
18	50461262	T	C	18	52934892	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	2.68219155180855E-5	0.0
18	50461262	T	G	18	52934892	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	2.68219155180855E-5	0.0
18	50461263	A	C	18	52934893	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00167110284604818	0.002
18	50461263	A	G	18	52934893	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00167110284604818	0.002
18	50461263	A	T	18	52934893	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00167110284604818	0.002
18	50461264	C	A	18	52934894	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.07620641825897E-5	0.002
18	50461264	C	G	18	52934894	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.07620641825897E-5	0.002
18	50461264	C	T	18	52934894	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.31929338280547E-5	0.004
18	50461265	C	A	18	52934895	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.65361214020652E-5	0.006
18	50461265	C	G	18	52934895	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.96186567608212E-5	0.006
18	50461265	C	T	18	52934895	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.65361214020652E-5	0.006
18	50461266	T	A	18	52934896	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.80476933978685E-5	0.0
18	50461266	T	C	18	52934896	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.75061533442063E-5	0.008
18	50461266	T	G	18	52934896	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.75061533442063E-5	0.01
18	50461267	T	A	18	52934897	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.3994564522384E-5	0.014
18	50461267	T	C	18	52934897	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.3994564522384E-5	0.01
18	50461267	T	G	18	52934897	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.3994564522384E-5	0.01
18	50461268	G	A	18	52934898	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.65361214020652E-5	0.006
18	50461268	G	C	18	52934898	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.65361214020652E-5	0.006
18	50461268	G	T	18	52934898	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.65361214020652E-5	0.006
18	50491389	C	A	18	52965019	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.72760553213487E-5	0.002
18	50491389	C	G	18	52965019	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.72760553213487E-5	0.0
18	50491389	C	T	18	52965019	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.72760553213487E-5	0.022
18	50491390	T	A	18	52965020	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.78864525412067E-5	0.0
18	50491390	T	C	18	52965020	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.78864525412067E-5	0.002
18	50491390	T	G	18	52965020	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.78864525412067E-5	0.0
18	50491391	C	A	18	52965021	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.04243866858565E-5	0.0
18	50491391	C	G	18	52965021	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.04243866858565E-5	0.002
18	50491391	C	T	18	52965021	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.04243866858565E-5	0.0
18	50491392	T	A	18	52965022	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.80274866394675E-5	0.0
18	50491392	T	C	18	52965022	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.80274866394675E-5	0.0
18	50491392	T	G	18	52965022	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.80274866394675E-5	0.0
18	50491393	C	A	18	52965023	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.17805017507507E-5	0.0
18	50491393	C	G	18	52965023	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.17805017507507E-5	0.008
18	50491393	C	T	18	52965023	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.17805017507507E-5	0.0
18	50491394	T	A	18	52965024	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.01559384236425E-5	0.0
18	50491394	T	C	18	52965024	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.41215694109E-6	0.0
18	50491394	T	G	18	52965024	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.41215694109E-6	0.0
18	50491395	T	A	18	52965025	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08788427788342E-5	0.0
18	50491395	T	C	18	52965025	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08788427788342E-5	0.0
18	50491395	T	G	18	52965025	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08788427788342E-5	0.0
18	50491396	T	A	18	52965026	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.07620641825897E-5	0.0
18	50491396	T	C	18	52965026	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.99153316237132E-5	0.0
18	50491396	T	G	18	52965026	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.99153316237132E-5	0.0
18	50491397	T	A	18	52965027	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08159923002108E-5	0.0
18	50491397	T	C	18	52965027	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.00238715200698E-5	0.0
18	50491397	T	G	18	52965027	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.00238715200698E-5	0.0
18	50491398	G	A	18	52965028	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.86431456331734E-5	0.002
18	50491398	G	C	18	52965028	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.20695034961553E-5	0.008
18	50491398	G	T	18	52965028	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.20695034961553E-5	0.002
18	50491399	A	C	18	52965029	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	3.01090753907429E-4	0.016
18	50491399	A	G	18	52965029	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	3.01090753907429E-4	0.016
18	50491399	A	T	18	52965029	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	3.01090753907429E-4	0.016
18	50491400	G	A	18	52965030	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	7.27456659313109E-5	0.0
18	50491400	G	C	18	52965030	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	9.72760553213487E-5	0.008
18	50491400	G	T	18	52965030	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	7.27456659313109E-5	0.0
18	50491401	G	A	18	52965031	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.09828708177445E-5	0.0
18	50491401	G	C	18	52965031	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	3.79815302939872E-5	0.0
18	50491401	G	T	18	52965031	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.09828708177445E-5	0.0
18	50491402	A	C	18	52965032	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	3.20862408805592E-5	0.024
18	50491402	A	G	18	52965032	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	3.20862408805592E-5	0.022
18	50491402	A	T	18	52965032	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	2.3994564522384E-5	0.012
18	50491494	C	A	18	52965124	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	1.71811775086873E-5	0.002
18	50491494	C	G	18	52965124	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	1.71811775086873E-5	0.016
18	50491494	C	T	18	52965124	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	2.65388135286213E-5	0.002
18	50491495	A	C	18	52965125	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.59797615271383E-5	0.004
18	50491495	A	G	18	52965125	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.59797615271383E-5	0.004
18	50491495	A	T	18	52965125	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	4.59797615271383E-5	0.0
18	50491496	G	A	18	52965126	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	2.46522264953722E-5	0.0
18	50491496	G	C	18	52965126	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	2.46522264953722E-5	0.0
18	50491496	G	T	18	52965126	n	y	intronic	DCC	.	.	UTR5	ENSG00000187323	.	.	2.46522264953722E-5	0.0
18	50491497	G	A	18	52965127	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	1.10275622159801E-5	0.002
18	50491497	G	C	18	52965127	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	1.05130521861172E-5	0.0
18	50491497	G	T	18	52965127	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	1.05130521861172E-5	0.002
18	50491498	T	A	18	52965128	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	2.455930068921E-5	0.002
18	50491498	T	C	18	52965128	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	5.38731564659595E-5	0.002
18	50491498	T	G	18	52965128	n	y	intronic	DCC	.	.	splicing	ENSG00000187323	.	.	5.38731564659595E-5	0.002
18	50491499	A	C	18	52965129	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.16979026867853E-4	0.014
18	50491499	A	G	18	52965129	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.16979026867853E-4	0.014
18	50491499	A	T	18	52965129	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.16979026867853E-4	0.014
18	50491500	A	C	18	52965130	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.36195737818257E-5	0.002
18	50491500	A	G	18	52965130	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.36195737818257E-5	0.002
18	50491500	A	T	18	52965130	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.46958351375406E-5	0.002
18	50491501	G	A	18	52965131	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.46522264953722E-5	0.002
18	50491501	G	C	18	52965131	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.46522264953722E-5	0.002
18	50491501	G	T	18	52965131	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.46522264953722E-5	0.002
18	50491502	G	A	18	52965132	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.94405013182015E-5	0.0
18	50491502	G	C	18	52965132	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.94405013182015E-5	0.0
18	50491502	G	T	18	52965132	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.94405013182015E-5	0.0
18	50491503	T	A	18	52965133	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.64873789107489E-5	0.002
18	50491503	T	C	18	52965133	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.17833868802641E-5	0.0
18	50491503	T	G	18	52965133	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.17833868802641E-5	0.0
18	50491504	A	C	18	52965134	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.59893697903663E-4	0.092
18	50491504	A	G	18	52965134	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.59893697903663E-4	0.098
18	50491504	A	T	18	52965134	n	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.59893697903663E-4	0.066
18	50589663	C	A	18	53063293	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.8693184919871E-4	0.042
18	50589663	C	G	18	53063293	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.13514713900885E-4	0.022
18	50589663	C	T	18	53063293	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.2753952102767E-5	0.002
18	50589664	T	A	18	53063294	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999833706792148	0.898
18	50589664	T	C	18	53063294	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.652163886513675	0.438
18	50589664	T	G	18	53063294	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.910738909012443	0.718
18	50589665	G	A	18	53063295	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00757473481948121	0.08
18	50589665	G	C	18	53063295	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00201190882572086	0.062
18	50589665	G	T	18	53063295	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00152346928922724	0.074
18	50589666	T	A	18	53063296	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.65313112317278	0.596
18	50589666	T	C	18	53063296	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.225297900832316	0.43
18	50589666	T	G	18	53063296	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.372100254878289	0.594
18	50589667	C	A	18	53063297	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.104354833727476	0.358
18	50589667	C	G	18	53063297	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0656491883886272	0.298
18	50589667	C	T	18	53063297	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0114547526352641	0.088
18	50589668	T	A	18	53063298	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0132167408495283	0.128
18	50589668	T	C	18	53063298	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.46914497467356E-5	0.0
18	50589668	T	G	18	53063298	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00256749454119847	0.032
18	50589669	T	A	18	53063299	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00206831332660458	0.056
18	50589669	T	C	18	53063299	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.28401775849323E-4	0.0
18	50589669	T	G	18	53063299	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.001598104609381	0.064
18	50589670	T	A	18	53063300	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998952827483822	0.872
18	50589670	T	C	18	53063300	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0732815430033629	0.286
18	50589670	T	G	18	53063300	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.39482515360827	0.582
18	50589671	G	A	18	53063301	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.54968131720126E-4	0.0
18	50589671	G	C	18	53063301	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.7607922589149E-4	0.004
18	50589671	G	T	18	53063301	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.54968131720126E-4	0.006
18	50589672	C	A	18	53063302	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999087316872652	0.832
18	50589672	C	G	18	53063302	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999982926514063	0.99
18	50589672	C	T	18	53063302	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.986125608226463	0.428
18	50589673	A	C	18	53063303	y	y	splicing	DCC(NM_005215:exon6:c.986-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.986-2A>C;ENST00000304775:exon5:c.787-2A>C;ENST00000412726:exon6:c.530-2A>C)	.	.	0.999988247793601	0.932
18	50589673	A	G	18	53063303	y	y	splicing	DCC(NM_005215:exon6:c.986-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.986-2A>G;ENST00000304775:exon5:c.787-2A>G;ENST00000412726:exon6:c.530-2A>G)	.	.	0.999988247793601	0.932
18	50589673	A	T	18	53063303	y	y	splicing	DCC(NM_005215:exon6:c.986-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.986-2A>T;ENST00000304775:exon5:c.787-2A>T;ENST00000412726:exon6:c.530-2A>T)	.	.	0.999988247793601	0.932
18	50589674	G	A	18	53063304	y	y	splicing	DCC(NM_005215:exon6:c.986-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.986-1G>A;ENST00000304775:exon5:c.787-1G>A;ENST00000412726:exon6:c.530-1G>A)	.	.	0.999989072007339	0.934
18	50589674	G	C	18	53063304	y	y	splicing	DCC(NM_005215:exon6:c.986-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.986-1G>C;ENST00000304775:exon5:c.787-1G>C;ENST00000412726:exon6:c.530-1G>C)	.	.	0.999989072007339	0.934
18	50589674	G	T	18	53063304	y	y	splicing	DCC(NM_005215:exon6:c.986-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.986-1G>T;ENST00000304775:exon5:c.787-1G>T;ENST00000412726:exon6:c.530-1G>T)	.	.	0.999989072007339	0.934
18	50589675	T	A	18	53063305	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.T986A:p.V329D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon6:c.T986A:p.V329D;ENSG00000187323:ENST00000412726:exon6:c.T530A:p.V177D;	0.00117424872822953	0.028
18	50589675	T	C	18	53063305	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.T986C:p.V329A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon6:c.T986C:p.V329A;ENSG00000187323:ENST00000412726:exon6:c.T530C:p.V177A;	0.0246599010943631	0.038
18	50589675	T	G	18	53063305	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.T986G:p.V329G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon6:c.T986G:p.V329G;ENSG00000187323:ENST00000412726:exon6:c.T530G:p.V177G;	0.00294851881322413	0.056
18	50589676	T	A	18	53063306	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon6:c.T987A:p.V329V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon6:c.T987A:p.V329V;ENSG00000187323:ENST00000412726:exon6:c.T531A:p.V177V;	0.148312533201537	0.27
18	50589676	T	C	18	53063306	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon6:c.T987C:p.V329V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon6:c.T987C:p.V329V;ENSG00000187323:ENST00000412726:exon6:c.T531C:p.V177V;	0.087031007300981	0.286
18	50589676	T	G	18	53063306	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon6:c.T987G:p.V329V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon6:c.T987G:p.V329V;ENSG00000187323:ENST00000412726:exon6:c.T531G:p.V177V;	0.087031007300981	0.304
18	50589827	G	A	18	53063457	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.G1138A:p.V380M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.G103A:p.V35M;ENSG00000187323:ENST00000442544:exon6:c.G1138A:p.V380M;ENSG00000187323:ENST00000412726:exon6:c.G682A:p.V228M;ENSG00000187323:ENST00000578949:exon2:c.G103A:p.V35M;	0.00997898745744089	0.056
18	50589827	G	C	18	53063457	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.G1138C:p.V380L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.G103C:p.V35L;ENSG00000187323:ENST00000442544:exon6:c.G1138C:p.V380L;ENSG00000187323:ENST00000412726:exon6:c.G682C:p.V228L;ENSG00000187323:ENST00000578949:exon2:c.G103C:p.V35L;	0.254365111489112	0.362
18	50589827	G	T	18	53063457	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.G1138T:p.V380L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.G103T:p.V35L;ENSG00000187323:ENST00000442544:exon6:c.G1138T:p.V380L;ENSG00000187323:ENST00000412726:exon6:c.G682T:p.V228L;ENSG00000187323:ENST00000578949:exon2:c.G103T:p.V35L;	0.612801160793281	0.588
18	50589828	T	A	18	53063458	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.T1139A:p.V380E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.T104A:p.V35E;ENSG00000187323:ENST00000442544:exon6:c.T1139A:p.V380E;ENSG00000187323:ENST00000412726:exon6:c.T683A:p.V228E;ENSG00000187323:ENST00000578949:exon2:c.T104A:p.V35E;	0.421181754941408	0.478
18	50589828	T	C	18	53063458	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.T1139C:p.V380A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.T104C:p.V35A;ENSG00000187323:ENST00000442544:exon6:c.T1139C:p.V380A;ENSG00000187323:ENST00000412726:exon6:c.T683C:p.V228A;ENSG00000187323:ENST00000578949:exon2:c.T104C:p.V35A;	0.940850529062166	0.794
18	50589828	T	G	18	53063458	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon6:c.T1139G:p.V380G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.T104G:p.V35G;ENSG00000187323:ENST00000442544:exon6:c.T1139G:p.V380G;ENSG00000187323:ENST00000412726:exon6:c.T683G:p.V228G;ENSG00000187323:ENST00000578949:exon2:c.T104G:p.V35G;	0.838967145426786	0.692
18	50589829	G	A	18	53063459	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon6:c.G1140A:p.V380V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.G105A:p.V35V;ENSG00000187323:ENST00000442544:exon6:c.G1140A:p.V380V;ENSG00000187323:ENST00000412726:exon6:c.G684A:p.V228V;ENSG00000187323:ENST00000578949:exon2:c.G105A:p.V35V;	0.99997843894504	1.0
18	50589829	G	C	18	53063459	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon6:c.G1140C:p.V380V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.G105C:p.V35V;ENSG00000187323:ENST00000442544:exon6:c.G1140C:p.V380V;ENSG00000187323:ENST00000412726:exon6:c.G684C:p.V228V;ENSG00000187323:ENST00000578949:exon2:c.G105C:p.V35V;	0.999982877643607	0.996
18	50589829	G	T	18	53063459	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon6:c.G1140T:p.V380V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon3:c.G105T:p.V35V;ENSG00000187323:ENST00000442544:exon6:c.G1140T:p.V380V;ENSG00000187323:ENST00000412726:exon6:c.G684T:p.V228V;ENSG00000187323:ENST00000578949:exon2:c.G105T:p.V35V;	0.999967307425692	0.992
18	50589830	G	A	18	53063460	y	y	splicing	DCC(NM_005215:exon6:c.1140+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.1140+1G>A;ENST00000304775:exon5:c.941+1G>A;ENST00000412726:exon6:c.684+1G>A;ENST00000581580:exon3:c.105+1G>A;ENST00000578949:exon2:c.105+1G>A)	.	.	0.999990361384395	0.938
18	50589830	G	C	18	53063460	y	y	splicing	DCC(NM_005215:exon6:c.1140+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.1140+1G>C;ENST00000304775:exon5:c.941+1G>C;ENST00000412726:exon6:c.684+1G>C;ENST00000581580:exon3:c.105+1G>C;ENST00000578949:exon2:c.105+1G>C)	.	.	0.999990361384395	0.938
18	50589830	G	T	18	53063460	y	y	splicing	DCC(NM_005215:exon6:c.1140+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.1140+1G>T;ENST00000304775:exon5:c.941+1G>T;ENST00000412726:exon6:c.684+1G>T;ENST00000581580:exon3:c.105+1G>T;ENST00000578949:exon2:c.105+1G>T)	.	.	0.999990361384395	0.938
18	50589831	T	A	18	53063461	y	y	splicing	DCC(NM_005215:exon6:c.1140+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.1140+2T>A;ENST00000304775:exon5:c.941+2T>A;ENST00000412726:exon6:c.684+2T>A;ENST00000581580:exon3:c.105+2T>A;ENST00000578949:exon2:c.105+2T>A)	.	.	0.999988247793601	0.93
18	50589831	T	C	18	53063461	y	y	splicing	DCC(NM_005215:exon6:c.1140+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.1140+2T>C;ENST00000304775:exon5:c.941+2T>C;ENST00000412726:exon6:c.684+2T>C;ENST00000581580:exon3:c.105+2T>C;ENST00000578949:exon2:c.105+2T>C)	.	.	0.995320650369382	0.712
18	50589831	T	G	18	53063461	y	y	splicing	DCC(NM_005215:exon6:c.1140+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon6:c.1140+2T>G;ENST00000304775:exon5:c.941+2T>G;ENST00000412726:exon6:c.684+2T>G;ENST00000581580:exon3:c.105+2T>G;ENST00000578949:exon2:c.105+2T>G)	.	.	0.999988247793601	0.93
18	50589832	A	C	18	53063462	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999869785021862	0.968
18	50589832	A	G	18	53063462	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999461124624666	0.974
18	50589832	A	T	18	53063462	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999869785021862	0.964
18	50589833	A	C	18	53063463	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998716693940863	0.928
18	50589833	A	G	18	53063463	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999738882526177	0.978
18	50589833	A	T	18	53063463	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997325025513399	0.922
18	50589834	T	A	18	53063464	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.73896059234248E-4	0.046
18	50589834	T	C	18	53063464	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.41991540079172E-4	0.01
18	50589834	T	G	18	53063464	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.36713963325992E-4	0.084
18	50589835	T	A	18	53063465	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.963622437123253	0.626
18	50589835	T	C	18	53063465	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.976858429860845	0.808
18	50589835	T	G	18	53063465	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.215620380136077	0.594
18	50589836	A	C	18	53063466	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.34600621393508E-4	0.0
18	50589836	A	G	18	53063466	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.77275759119167E-4	0.04
18	50589836	A	T	18	53063466	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0010141462181323	0.044
18	50589837	T	A	18	53063467	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.32816919080765E-4	0.006
18	50589837	T	C	18	53063467	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00324586760440478	0.024
18	50589837	T	G	18	53063467	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00106292693948693	0.044
18	50592404	T	A	18	53066034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.25003603039075E-4	0.078
18	50592404	T	C	18	53066034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.73211615861602E-4	0.002
18	50592404	T	G	18	53066034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.36145930207747E-4	0.106
18	50592405	C	A	18	53066035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.02682404118536E-5	0.01
18	50592405	C	G	18	53066035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.30478117675961E-5	0.0
18	50592405	C	T	18	53066035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.56227402875007E-5	0.0
18	50592406	T	A	18	53066036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.85013401690304E-5	0.13
18	50592406	T	C	18	53066036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.12098606884154E-5	0.032
18	50592406	T	G	18	53066036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.11789015433249E-5	0.148
18	50592407	T	A	18	53066037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.26885817701094E-4	0.086
18	50592407	T	C	18	53066037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.73114668124681E-5	0.004
18	50592407	T	G	18	53066037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.80981981930646E-5	0.112
18	50592408	T	A	18	53066038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.61402697738659E-5	0.014
18	50592408	T	C	18	53066038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.74586877199093E-5	0.0
18	50592408	T	G	18	53066038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.79945618097006E-5	0.008
18	50592409	T	A	18	53066039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.78049999414749E-5	0.002
18	50592409	T	C	18	53066039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.04921039168058E-5	0.0
18	50592409	T	G	18	53066039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.59880634413544E-5	0.002
18	50592410	C	A	18	53066040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.56412422462984E-4	0.092
18	50592410	C	G	18	53066040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.63149571592087E-4	0.088
18	50592410	C	T	18	53066040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.32851152601836E-5	0.004
18	50592411	C	A	18	53066041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.11612319096215E-4	0.006
18	50592411	C	G	18	53066041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.33248658847873E-4	0.086
18	50592411	C	T	18	53066041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.61539306393912E-5	0.004
18	50592412	C	A	18	53066042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.84024570147999E-5	0.0
18	50592412	C	G	18	53066042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.46083558450616E-5	0.0
18	50592412	C	T	18	53066042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.84024570147999E-5	0.002
18	50592413	T	A	18	53066043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0293883130697655	0.252
18	50592413	T	C	18	53066043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.83343959336975E-4	0.016
18	50592413	T	G	18	53066043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998068554406852	0.734
18	50592414	A	C	18	53066044	y	y	splicing	DCC(NM_005215:exon7:c.1141-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1141-2A>C;ENST00000304775:exon6:c.942-2A>C;ENST00000412726:exon7:c.685-2A>C;ENST00000581580:exon4:c.106-2A>C;ENST00000578949:exon3:c.106-2A>C)	.	.	0.999989917668626	0.926
18	50592414	A	G	18	53066044	y	y	splicing	DCC(NM_005215:exon7:c.1141-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1141-2A>G;ENST00000304775:exon6:c.942-2A>G;ENST00000412726:exon7:c.685-2A>G;ENST00000581580:exon4:c.106-2A>G;ENST00000578949:exon3:c.106-2A>G)	.	.	0.999989917668626	0.926
18	50592414	A	T	18	53066044	y	y	splicing	DCC(NM_005215:exon7:c.1141-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1141-2A>T;ENST00000304775:exon6:c.942-2A>T;ENST00000412726:exon7:c.685-2A>T;ENST00000581580:exon4:c.106-2A>T;ENST00000578949:exon3:c.106-2A>T)	.	.	0.999989917668626	0.926
18	50592415	G	A	18	53066045	y	y	splicing	DCC(NM_005215:exon7:c.1141-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1141-1G>A;ENST00000304775:exon6:c.942-1G>A;ENST00000412726:exon7:c.685-1G>A;ENST00000581580:exon4:c.106-1G>A;ENST00000578949:exon3:c.106-1G>A)	.	.	0.999981760802075	0.944
18	50592415	G	C	18	53066045	y	y	splicing	DCC(NM_005215:exon7:c.1141-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1141-1G>C;ENST00000304775:exon6:c.942-1G>C;ENST00000412726:exon7:c.685-1G>C;ENST00000581580:exon4:c.106-1G>C;ENST00000578949:exon3:c.106-1G>C)	.	.	0.999981760802075	0.942
18	50592415	G	T	18	53066045	y	y	splicing	DCC(NM_005215:exon7:c.1141-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1141-1G>T;ENST00000304775:exon6:c.942-1G>T;ENST00000412726:exon7:c.685-1G>T;ENST00000581580:exon4:c.106-1G>T;ENST00000578949:exon3:c.106-1G>T)	.	.	0.999981760802075	0.944
18	50592416	G	A	18	53066046	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.G1141A:p.G381R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.G106A:p.G36R;ENSG00000187323:ENST00000442544:exon7:c.G1141A:p.G381R;ENSG00000187323:ENST00000412726:exon7:c.G685A:p.G229R;ENSG00000187323:ENST00000578949:exon3:c.G106A:p.G36R;	0.683339028263573	0.478
18	50592416	G	C	18	53066046	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.G1141C:p.G381R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.G106C:p.G36R;ENSG00000187323:ENST00000442544:exon7:c.G1141C:p.G381R;ENSG00000187323:ENST00000412726:exon7:c.G685C:p.G229R;ENSG00000187323:ENST00000578949:exon3:c.G106C:p.G36R;	0.59204295309018	0.47
18	50592416	G	T	18	53066046	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon7:c.G1141T:p.G381X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon4:c.G106T:p.G36X;ENSG00000187323:ENST00000442544:exon7:c.G1141T:p.G381X;ENSG00000187323:ENST00000412726:exon7:c.G685T:p.G229X;ENSG00000187323:ENST00000578949:exon3:c.G106T:p.G36X;	0.998375652464001	0.74
18	50592417	G	A	18	53066047	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.G1142A:p.G381E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.G107A:p.G36E;ENSG00000187323:ENST00000442544:exon7:c.G1142A:p.G381E;ENSG00000187323:ENST00000412726:exon7:c.G686A:p.G229E;ENSG00000187323:ENST00000578949:exon3:c.G107A:p.G36E;	0.0102711232972997	0.06
18	50592417	G	C	18	53066047	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.G1142C:p.G381A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.G107C:p.G36A;ENSG00000187323:ENST00000442544:exon7:c.G1142C:p.G381A;ENSG00000187323:ENST00000412726:exon7:c.G686C:p.G229A;ENSG00000187323:ENST00000578949:exon3:c.G107C:p.G36A;	0.00617075178955788	0.044
18	50592417	G	T	18	53066047	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.G1142T:p.G381V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.G107T:p.G36V;ENSG00000187323:ENST00000442544:exon7:c.G1142T:p.G381V;ENSG00000187323:ENST00000412726:exon7:c.G686T:p.G229V;ENSG00000187323:ENST00000578949:exon3:c.G107T:p.G36V;	0.00636331360930872	0.022
18	50592534	C	A	18	53066164	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.C1259A:p.P420H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.C224A:p.P75H;ENSG00000187323:ENST00000442544:exon7:c.C1259A:p.P420H;ENSG00000187323:ENST00000412726:exon7:c.C803A:p.P268H;ENSG00000187323:ENST00000578949:exon3:c.C224A:p.P75H;	0.00121151651979995	0.07
18	50592534	C	G	18	53066164	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.C1259G:p.P420R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.C224G:p.P75R;ENSG00000187323:ENST00000442544:exon7:c.C1259G:p.P420R;ENSG00000187323:ENST00000412726:exon7:c.C803G:p.P268R;ENSG00000187323:ENST00000578949:exon3:c.C224G:p.P75R;	4.22885016690335E-4	0.07
18	50592534	C	T	18	53066164	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.C1259T:p.P420L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.C224T:p.P75L;ENSG00000187323:ENST00000442544:exon7:c.C1259T:p.P420L;ENSG00000187323:ENST00000412726:exon7:c.C803T:p.P268L;ENSG00000187323:ENST00000578949:exon3:c.C224T:p.P75L;	0.0129254790915502	0.204
18	50592535	T	A	18	53066165	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon7:c.T1260A:p.P420P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.T225A:p.P75P;ENSG00000187323:ENST00000442544:exon7:c.T1260A:p.P420P;ENSG00000187323:ENST00000412726:exon7:c.T804A:p.P268P;ENSG00000187323:ENST00000578949:exon3:c.T225A:p.P75P;	1.72156293375333E-4	0.132
18	50592535	T	C	18	53066165	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon7:c.T1260C:p.P420P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.T225C:p.P75P;ENSG00000187323:ENST00000442544:exon7:c.T1260C:p.P420P;ENSG00000187323:ENST00000412726:exon7:c.T804C:p.P268P;ENSG00000187323:ENST00000578949:exon3:c.T225C:p.P75P;	4.31105480765407E-4	0.014
18	50592535	T	G	18	53066165	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon7:c.T1260G:p.P420P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.T225G:p.P75P;ENSG00000187323:ENST00000442544:exon7:c.T1260G:p.P420P;ENSG00000187323:ENST00000412726:exon7:c.T804G:p.P268P;ENSG00000187323:ENST00000578949:exon3:c.T225G:p.P75P;	1.99595181227163E-4	0.046
18	50592536	G	A	18	53066166	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.G1261A:p.A421T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.G226A:p.A76T;ENSG00000187323:ENST00000442544:exon7:c.G1261A:p.A421T;ENSG00000187323:ENST00000412726:exon7:c.G805A:p.A269T;ENSG00000187323:ENST00000578949:exon3:c.G226A:p.A76T;	0.999888971892758	0.988
18	50592536	G	C	18	53066166	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.G1261C:p.A421P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.G226C:p.A76P;ENSG00000187323:ENST00000442544:exon7:c.G1261C:p.A421P;ENSG00000187323:ENST00000412726:exon7:c.G805C:p.A269P;ENSG00000187323:ENST00000578949:exon3:c.G226C:p.A76P;	0.999963857325264	0.956
18	50592536	G	T	18	53066166	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon7:c.G1261T:p.A421S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon4:c.G226T:p.A76S;ENSG00000187323:ENST00000442544:exon7:c.G1261T:p.A421S;ENSG00000187323:ENST00000412726:exon7:c.G805T:p.A269S;ENSG00000187323:ENST00000578949:exon3:c.G226T:p.A76S;	0.999932557756514	0.996
18	50592537	G	A	18	53066167	y	y	splicing	DCC(NM_005215:exon7:c.1261+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1261+1G>A;ENST00000304775:exon6:c.1062+1G>A;ENST00000412726:exon7:c.805+1G>A;ENST00000581580:exon4:c.226+1G>A;ENST00000578949:exon3:c.226+1G>A)	.	.	0.999981760802075	0.944
18	50592537	G	C	18	53066167	y	y	splicing	DCC(NM_005215:exon7:c.1261+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1261+1G>C;ENST00000304775:exon6:c.1062+1G>C;ENST00000412726:exon7:c.805+1G>C;ENST00000581580:exon4:c.226+1G>C;ENST00000578949:exon3:c.226+1G>C)	.	.	0.999981760802075	0.944
18	50592537	G	T	18	53066167	y	y	splicing	DCC(NM_005215:exon7:c.1261+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1261+1G>T;ENST00000304775:exon6:c.1062+1G>T;ENST00000412726:exon7:c.805+1G>T;ENST00000581580:exon4:c.226+1G>T;ENST00000578949:exon3:c.226+1G>T)	.	.	0.999981760802075	0.944
18	50592538	T	A	18	53066168	y	y	splicing	DCC(NM_005215:exon7:c.1261+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1261+2T>A;ENST00000304775:exon6:c.1062+2T>A;ENST00000412726:exon7:c.805+2T>A;ENST00000581580:exon4:c.226+2T>A;ENST00000578949:exon3:c.226+2T>A)	.	.	0.999989917668626	0.928
18	50592538	T	C	18	53066168	y	y	splicing	DCC(NM_005215:exon7:c.1261+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1261+2T>C;ENST00000304775:exon6:c.1062+2T>C;ENST00000412726:exon7:c.805+2T>C;ENST00000581580:exon4:c.226+2T>C;ENST00000578949:exon3:c.226+2T>C)	.	.	0.999927265809569	0.894
18	50592538	T	G	18	53066168	y	y	splicing	DCC(NM_005215:exon7:c.1261+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon7:c.1261+2T>G;ENST00000304775:exon6:c.1062+2T>G;ENST00000412726:exon7:c.805+2T>G;ENST00000581580:exon4:c.226+2T>G;ENST00000578949:exon3:c.226+2T>G)	.	.	0.999989917668626	0.928
18	50592539	A	C	18	53066169	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.989906135567252	0.848
18	50592539	A	G	18	53066169	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.396676658298775	0.352
18	50592539	A	T	18	53066169	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99832410446515	0.836
18	50592540	A	C	18	53066170	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.872029989084517	0.598
18	50592540	A	G	18	53066170	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.909800668730501	0.674
18	50592540	A	T	18	53066170	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.967971937580324	0.702
18	50592541	G	A	18	53066171	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998708137979679	0.886
18	50592541	G	C	18	53066171	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999476572796048	0.944
18	50592541	G	T	18	53066171	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998812930605856	0.886
18	50592542	A	C	18	53066172	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.04077860215735E-5	0.016
18	50592542	A	G	18	53066172	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.07588617240481E-6	0.002
18	50592542	A	T	18	53066172	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.0865177540425E-6	0.0
18	50592543	C	A	18	53066173	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.65309565354441E-5	0.002
18	50592543	C	G	18	53066173	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.3649968147279E-5	0.0
18	50592543	C	T	18	53066173	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.48612641684273E-5	0.0
18	50592544	A	C	18	53066174	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.54228055403153E-5	0.0
18	50592544	A	G	18	53066174	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.89304152880571E-5	0.002
18	50592544	A	T	18	53066174	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.32700368780981E-5	0.002
18	50683714	C	A	18	53157344	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.20728068547708E-4	0.028
18	50683714	C	G	18	53157344	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.10574276251411E-4	0.026
18	50683714	C	T	18	53157344	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.23420335276411E-5	0.0
18	50683715	T	A	18	53157345	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00490842872954754	0.262
18	50683715	T	C	18	53157345	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00550931397658456	0.05
18	50683715	T	G	18	53157345	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00346243690723639	0.2
18	50683716	T	A	18	53157346	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.74292611288002E-4	0.154
18	50683716	T	C	18	53157346	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.11793933635791E-4	0.006
18	50683716	T	G	18	53157346	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.3893811343051E-4	0.19
18	50683717	T	A	18	53157347	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00137019580735259	0.138
18	50683717	T	C	18	53157347	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.6133036037146E-4	0.018
18	50683717	T	G	18	53157347	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.96198062589334E-4	0.146
18	50683718	C	A	18	53157348	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.80545610604044E-4	0.014
18	50683718	C	G	18	53157348	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.30968643452645E-4	0.018
18	50683718	C	T	18	53157348	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.86413238363782E-5	0.002
18	50683719	T	A	18	53157349	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00384499093266777	0.176
18	50683719	T	C	18	53157349	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.25386765411951E-4	0.032
18	50683719	T	G	18	53157349	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00176072932900249	0.15
18	50683720	C	A	18	53157350	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.30821995900564E-4	0.096
18	50683720	C	G	18	53157350	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.57236341557372E-4	0.11
18	50683720	C	T	18	53157350	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.37314797496296E-5	0.0
18	50683721	C	A	18	53157351	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.38629028117775E-4	0.112
18	50683721	C	G	18	53157351	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.38629028117775E-4	0.112
18	50683721	C	T	18	53157351	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.00828158802669E-5	0.004
18	50683722	T	A	18	53157352	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.96374773911734E-5	0.0
18	50683722	T	C	18	53157352	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.2566925418821E-5	0.004
18	50683722	T	G	18	53157352	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.88771427514432E-5	0.002
18	50683723	T	A	18	53157353	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00354310248183989	0.046
18	50683723	T	C	18	53157353	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.25274405912899E-4	0.0
18	50683723	T	G	18	53157353	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.717390740287995	0.568
18	50683724	A	C	18	53157354	y	y	splicing	DCC(NM_005215:exon8:c.1262-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1262-2A>C;ENST00000304775:exon7:c.1063-2A>C;ENST00000412726:exon8:c.806-2A>C;ENST00000581580:exon5:c.227-2A>C;ENST00000578949:exon4:c.227-2A>C)	.	.	0.999986903042585	0.924
18	50683724	A	G	18	53157354	y	y	splicing	DCC(NM_005215:exon8:c.1262-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1262-2A>G;ENST00000304775:exon7:c.1063-2A>G;ENST00000412726:exon8:c.806-2A>G;ENST00000581580:exon5:c.227-2A>G;ENST00000578949:exon4:c.227-2A>G)	.	.	0.99998174402319	0.924
18	50683724	A	T	18	53157354	y	y	splicing	DCC(NM_005215:exon8:c.1262-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1262-2A>T;ENST00000304775:exon7:c.1063-2A>T;ENST00000412726:exon8:c.806-2A>T;ENST00000581580:exon5:c.227-2A>T;ENST00000578949:exon4:c.227-2A>T)	.	.	0.999986903042585	0.926
18	50683725	G	A	18	53157355	y	y	splicing	DCC(NM_005215:exon8:c.1262-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1262-1G>A;ENST00000304775:exon7:c.1063-1G>A;ENST00000412726:exon8:c.806-1G>A;ENST00000581580:exon5:c.227-1G>A;ENST00000578949:exon4:c.227-1G>A)	.	.	0.999986675681007	0.94
18	50683725	G	C	18	53157355	y	y	splicing	DCC(NM_005215:exon8:c.1262-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1262-1G>C;ENST00000304775:exon7:c.1063-1G>C;ENST00000412726:exon8:c.806-1G>C;ENST00000581580:exon5:c.227-1G>C;ENST00000578949:exon4:c.227-1G>C)	.	.	0.999986675681007	0.94
18	50683725	G	T	18	53157355	y	y	splicing	DCC(NM_005215:exon8:c.1262-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1262-1G>T;ENST00000304775:exon7:c.1063-1G>T;ENST00000412726:exon8:c.806-1G>T;ENST00000581580:exon5:c.227-1G>T;ENST00000578949:exon4:c.227-1G>T)	.	.	0.999986675681007	0.94
18	50683726	C	A	18	53157356	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.C1262A:p.A421D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.C227A:p.A76D;ENSG00000187323:ENST00000442544:exon8:c.C1262A:p.A421D;ENSG00000187323:ENST00000412726:exon8:c.C806A:p.A269D;ENSG00000187323:ENST00000578949:exon4:c.C227A:p.A76D;	0.00192648649362823	0.016
18	50683726	C	G	18	53157356	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.C1262G:p.A421G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.C227G:p.A76G;ENSG00000187323:ENST00000442544:exon8:c.C1262G:p.A421G;ENSG00000187323:ENST00000412726:exon8:c.C806G:p.A269G;ENSG00000187323:ENST00000578949:exon4:c.C227G:p.A76G;	0.00261762656753433	0.042
18	50683726	C	T	18	53157356	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.C1262T:p.A421V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.C227T:p.A76V;ENSG00000187323:ENST00000442544:exon8:c.C1262T:p.A421V;ENSG00000187323:ENST00000412726:exon8:c.C806T:p.A269V;ENSG00000187323:ENST00000578949:exon4:c.C227T:p.A76V;	0.0216585081622277	0.186
18	50683727	T	A	18	53157357	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon8:c.T1263A:p.A421A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.T228A:p.A76A;ENSG00000187323:ENST00000442544:exon8:c.T1263A:p.A421A;ENSG00000187323:ENST00000412726:exon8:c.T807A:p.A269A;ENSG00000187323:ENST00000578949:exon4:c.T228A:p.A76A;	7.8995566041713E-5	0.0
18	50683727	T	C	18	53157357	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon8:c.T1263C:p.A421A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.T228C:p.A76A;ENSG00000187323:ENST00000442544:exon8:c.T1263C:p.A421A;ENSG00000187323:ENST00000412726:exon8:c.T807C:p.A269A;ENSG00000187323:ENST00000578949:exon4:c.T228C:p.A76A;	3.95061114464326E-5	0.024
18	50683727	T	G	18	53157357	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon8:c.T1263G:p.A421A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.T228G:p.A76A;ENSG00000187323:ENST00000442544:exon8:c.T1263G:p.A421A;ENSG00000187323:ENST00000412726:exon8:c.T807G:p.A269A;ENSG00000187323:ENST00000578949:exon4:c.T228G:p.A76A;	3.00927359332025E-5	0.0
18	50683880	C	A	18	53157510	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.C1416A:p.N472K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.C381A:p.N127K;ENSG00000187323:ENST00000442544:exon8:c.C1416A:p.N472K;ENSG00000187323:ENST00000412726:exon8:c.C960A:p.N320K;	0.00527650110865075	0.076
18	50683880	C	G	18	53157510	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.C1416G:p.N472K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.C381G:p.N127K;ENSG00000187323:ENST00000442544:exon8:c.C1416G:p.N472K;ENSG00000187323:ENST00000412726:exon8:c.C960G:p.N320K;	0.00662415416131192	0.086
18	50683880	C	T	18	53157510	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon8:c.C1416T:p.N472N;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.C381T:p.N127N;ENSG00000187323:ENST00000442544:exon8:c.C1416T:p.N472N;ENSG00000187323:ENST00000412726:exon8:c.C960T:p.N320N;	0.200609126303138	0.498
18	50683881	A	C	18	53157511	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon8:c.A1417C:p.R473R;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.A382C:p.R128R;ENSG00000187323:ENST00000442544:exon8:c.A1417C:p.R473R;ENSG00000187323:ENST00000412726:exon8:c.A961C:p.R321R;	0.991634491861481	0.944
18	50683881	A	G	18	53157511	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.A1417G:p.R473G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.A382G:p.R128G;ENSG00000187323:ENST00000442544:exon8:c.A1417G:p.R473G;ENSG00000187323:ENST00000412726:exon8:c.A961G:p.R321G;	0.998199737513961	0.974
18	50683881	A	T	18	53157511	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.A1417T:p.R473W;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.A382T:p.R128W;ENSG00000187323:ENST00000442544:exon8:c.A1417T:p.R473W;ENSG00000187323:ENST00000412726:exon8:c.A961T:p.R321W;	0.999363695419293	0.964
18	50683882	G	A	18	53157512	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.G1418A:p.R473K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.G383A:p.R128K;ENSG00000187323:ENST00000442544:exon8:c.G1418A:p.R473K;ENSG00000187323:ENST00000412726:exon8:c.G962A:p.R321K;	0.999937184884324	0.996
18	50683882	G	C	18	53157512	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.G1418C:p.R473T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.G383C:p.R128T;ENSG00000187323:ENST00000442544:exon8:c.G1418C:p.R473T;ENSG00000187323:ENST00000412726:exon8:c.G962C:p.R321T;	0.999919027931249	0.986
18	50683882	G	T	18	53157512	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon8:c.G1418T:p.R473M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon5:c.G383T:p.R128M;ENSG00000187323:ENST00000442544:exon8:c.G1418T:p.R473M;ENSG00000187323:ENST00000412726:exon8:c.G962T:p.R321M;	0.999763716528856	0.986
18	50683883	G	A	18	53157513	y	y	splicing	DCC(NM_005215:exon8:c.1418+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1418+1G>A;ENST00000304775:exon7:c.1219+1G>A;ENST00000412726:exon8:c.962+1G>A;ENST00000581580:exon5:c.383+1G>A)	.	.	0.999986675681007	0.934
18	50683883	G	C	18	53157513	y	y	splicing	DCC(NM_005215:exon8:c.1418+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1418+1G>C;ENST00000304775:exon7:c.1219+1G>C;ENST00000412726:exon8:c.962+1G>C;ENST00000581580:exon5:c.383+1G>C)	.	.	0.999986675681007	0.934
18	50683883	G	T	18	53157513	y	y	splicing	DCC(NM_005215:exon8:c.1418+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1418+1G>T;ENST00000304775:exon7:c.1219+1G>T;ENST00000412726:exon8:c.962+1G>T;ENST00000581580:exon5:c.383+1G>T)	.	.	0.999986675681007	0.934
18	50683884	T	A	18	53157514	y	y	splicing	DCC(NM_005215:exon8:c.1418+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1418+2T>A;ENST00000304775:exon7:c.1219+2T>A;ENST00000412726:exon8:c.962+2T>A;ENST00000581580:exon5:c.383+2T>A)	.	.	0.999989917668626	0.928
18	50683884	T	C	18	53157514	y	y	splicing	DCC(NM_005215:exon8:c.1418+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1418+2T>C;ENST00000304775:exon7:c.1219+2T>C;ENST00000412726:exon8:c.962+2T>C;ENST00000581580:exon5:c.383+2T>C)	.	.	0.991007250132327	0.6
18	50683884	T	G	18	53157514	y	y	splicing	DCC(NM_005215:exon8:c.1418+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon8:c.1418+2T>G;ENST00000304775:exon7:c.1219+2T>G;ENST00000412726:exon8:c.962+2T>G;ENST00000581580:exon5:c.383+2T>G)	.	.	0.999989917668626	0.928
18	50683885	A	C	18	53157515	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.462001488289765	0.502
18	50683885	A	G	18	53157515	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00739875432452386	0.154
18	50683885	A	T	18	53157515	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.424095350735266	0.506
18	50683886	G	A	18	53157516	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.55542145777689E-5	0.012
18	50683886	G	C	18	53157516	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.13373792976963E-5	0.002
18	50683886	G	T	18	53157516	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.56147647404749E-5	0.0
18	50683887	G	A	18	53157517	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.911581197214193	0.658
18	50683887	G	C	18	53157517	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.994256784657053	0.792
18	50683887	G	T	18	53157517	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997082593984299	0.832
18	50683888	T	A	18	53157518	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0850798357878704	0.254
18	50683888	T	C	18	53157518	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.046679506871018	0.316
18	50683888	T	G	18	53157518	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0185302779223479	0.234
18	50683889	G	A	18	53157519	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.97645748960506E-5	0.0
18	50683889	G	C	18	53157519	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.97645748960506E-5	0.0
18	50683889	G	T	18	53157519	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.53838751976699E-5	0.002
18	50683890	A	C	18	53157520	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.27681899422811E-5	0.0
18	50683890	A	G	18	53157520	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.51915665924819E-5	0.0
18	50683890	A	T	18	53157520	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.27681899422811E-5	0.0
18	50705320	T	A	18	53178950	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999383039368139	0.924
18	50705320	T	C	18	53178950	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.762170822571977	0.52
18	50705320	T	G	18	53178950	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999161214493434	0.794
18	50705321	T	A	18	53178951	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999985889219228	0.98
18	50705321	T	C	18	53178951	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997207701364866	0.746
18	50705321	T	G	18	53178951	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999780735561066	0.946
18	50705322	G	A	18	53178952	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.11319681842738E-4	0.152
18	50705322	G	C	18	53178952	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.4680109952515E-5	0.09
18	50705322	G	T	18	53178952	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.40179403486653E-5	0.064
18	50705323	A	C	18	53178953	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.41494418232597E-4	0.174
18	50705323	A	G	18	53178953	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.30287321819288E-4	0.224
18	50705323	A	T	18	53178953	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.04291764722749E-4	0.132
18	50705324	T	A	18	53178954	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0535590705711635	0.226
18	50705324	T	C	18	53178954	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.10199851783743E-4	0.008
18	50705324	T	G	18	53178954	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999894697741106	0.986
18	50705325	T	A	18	53178955	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.971957901428091	0.612
18	50705325	T	C	18	53178955	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.18139651259685E-4	0.01
18	50705325	T	G	18	53178955	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.163907302657976	0.328
18	50705326	T	A	18	53178956	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.990386604541435	0.858
18	50705326	T	C	18	53178956	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00779984516696632	0.128
18	50705326	T	G	18	53178956	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.991007360158873	0.818
18	50705327	C	A	18	53178957	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00144346497621602	0.076
18	50705327	C	G	18	53178957	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0270587696722307	0.206
18	50705327	C	T	18	53178957	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.85624477232916E-5	0.006
18	50705328	T	A	18	53178958	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.76377582148798E-4	0.008
18	50705328	T	C	18	53178958	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.66351732795426E-4	0.03
18	50705328	T	G	18	53178958	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.09627134222428E-4	0.048
18	50705329	C	A	18	53178959	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.138790020503425	0.464
18	50705329	C	G	18	53178959	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999034846140747	0.884
18	50705329	C	T	18	53178959	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.61812965913536E-4	0.052
18	50705330	A	C	18	53178960	y	y	splicing	DCC(NM_005215:exon9:c.1419-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1419-2A>C;ENST00000304775:exon8:c.1220-2A>C;ENST00000412726:exon9:c.963-2A>C;ENST00000581580:exon6:c.384-2A>C)	.	.	0.999988247793601	0.932
18	50705330	A	G	18	53178960	y	y	splicing	DCC(NM_005215:exon9:c.1419-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1419-2A>G;ENST00000304775:exon8:c.1220-2A>G;ENST00000412726:exon9:c.963-2A>G;ENST00000581580:exon6:c.384-2A>G)	.	.	0.999988247793601	0.932
18	50705330	A	T	18	53178960	y	y	splicing	DCC(NM_005215:exon9:c.1419-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1419-2A>T;ENST00000304775:exon8:c.1220-2A>T;ENST00000412726:exon9:c.963-2A>T;ENST00000581580:exon6:c.384-2A>T)	.	.	0.999988247793601	0.932
18	50705331	G	A	18	53178961	y	y	splicing	DCC(NM_005215:exon9:c.1419-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1419-1G>A;ENST00000304775:exon8:c.1220-1G>A;ENST00000412726:exon9:c.963-1G>A;ENST00000581580:exon6:c.384-1G>A)	.	.	0.999990361384395	0.938
18	50705331	G	C	18	53178961	y	y	splicing	DCC(NM_005215:exon9:c.1419-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1419-1G>C;ENST00000304775:exon8:c.1220-1G>C;ENST00000412726:exon9:c.963-1G>C;ENST00000581580:exon6:c.384-1G>C)	.	.	0.999990361384395	0.938
18	50705331	G	T	18	53178961	y	y	splicing	DCC(NM_005215:exon9:c.1419-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1419-1G>T;ENST00000304775:exon8:c.1220-1G>T;ENST00000412726:exon9:c.963-1G>T;ENST00000581580:exon6:c.384-1G>T)	.	.	0.999990361384395	0.938
18	50705332	G	A	18	53178962	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon9:c.G1419A:p.R473R;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.G384A:p.R128R;ENSG00000187323:ENST00000442544:exon9:c.G1419A:p.R473R;ENSG00000187323:ENST00000412726:exon9:c.G963A:p.R321R;	0.0300462943230842	0.292
18	50705332	G	C	18	53178962	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.G1419C:p.R473S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.G384C:p.R128S;ENSG00000187323:ENST00000442544:exon9:c.G1419C:p.R473S;ENSG00000187323:ENST00000412726:exon9:c.G963C:p.R321S;	0.362193129437598	0.72
18	50705332	G	T	18	53178962	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.G1419T:p.R473S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.G384T:p.R128S;ENSG00000187323:ENST00000442544:exon9:c.G1419T:p.R473S;ENSG00000187323:ENST00000412726:exon9:c.G963T:p.R321S;	0.857602087438248	0.75
18	50705333	G	A	18	53178963	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.G1420A:p.E474K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.G385A:p.E129K;ENSG00000187323:ENST00000442544:exon9:c.G1420A:p.E474K;ENSG00000187323:ENST00000412726:exon9:c.G964A:p.E322K;	0.986022570768093	0.75
18	50705333	G	C	18	53178963	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.G1420C:p.E474Q;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.G385C:p.E129Q;ENSG00000187323:ENST00000442544:exon9:c.G1420C:p.E474Q;ENSG00000187323:ENST00000412726:exon9:c.G964C:p.E322Q;	0.951694594625449	0.746
18	50705333	G	T	18	53178963	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon9:c.G1420T:p.E474X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon6:c.G385T:p.E129X;ENSG00000187323:ENST00000442544:exon9:c.G1420T:p.E474X;ENSG00000187323:ENST00000412726:exon9:c.G964T:p.E322X;	0.987211888648224	0.902
18	50705484	A	C	18	53179114	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.A1571C:p.E524A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.A536C:p.E179A;ENSG00000187323:ENST00000442544:exon9:c.A1571C:p.E524A;ENSG00000187323:ENST00000412726:exon9:c.A1115C:p.E372A;	0.287234767501351	0.49
18	50705484	A	G	18	53179114	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.A1571G:p.E524G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.A536G:p.E179G;ENSG00000187323:ENST00000442544:exon9:c.A1571G:p.E524G;ENSG00000187323:ENST00000412726:exon9:c.A1115G:p.E372G;	0.897982750902173	0.57
18	50705484	A	T	18	53179114	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.A1571T:p.E524V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.A536T:p.E179V;ENSG00000187323:ENST00000442544:exon9:c.A1571T:p.E524V;ENSG00000187323:ENST00000412726:exon9:c.A1115T:p.E372V;	0.995938200758379	0.774
18	50705485	G	A	18	53179115	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon9:c.G1572A:p.E524E;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.G537A:p.E179E;ENSG00000187323:ENST00000442544:exon9:c.G1572A:p.E524E;ENSG00000187323:ENST00000412726:exon9:c.G1116A:p.E372E;	1.65692472488217E-4	0.054
18	50705485	G	C	18	53179115	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.G1572C:p.E524D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.G537C:p.E179D;ENSG00000187323:ENST00000442544:exon9:c.G1572C:p.E524D;ENSG00000187323:ENST00000412726:exon9:c.G1116C:p.E372D;	6.40774049777607E-5	0.002
18	50705485	G	T	18	53179115	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.G1572T:p.E524D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.G537T:p.E179D;ENSG00000187323:ENST00000442544:exon9:c.G1572T:p.E524D;ENSG00000187323:ENST00000412726:exon9:c.G1116T:p.E372D;	7.94021924177491E-5	0.002
18	50705486	T	A	18	53179116	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.T1573A:p.L525M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.T538A:p.L180M;ENSG00000187323:ENST00000442544:exon9:c.T1573A:p.L525M;ENSG00000187323:ENST00000412726:exon9:c.T1117A:p.L373M;	0.00572178809851774	0.032
18	50705486	T	C	18	53179116	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon9:c.T1573C:p.L525L;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.T538C:p.L180L;ENSG00000187323:ENST00000442544:exon9:c.T1573C:p.L525L;ENSG00000187323:ENST00000412726:exon9:c.T1117C:p.L373L;	0.147471540728984	0.462
18	50705486	T	G	18	53179116	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon9:c.T1573G:p.L525V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon6:c.T538G:p.L180V;ENSG00000187323:ENST00000442544:exon9:c.T1573G:p.L525V;ENSG00000187323:ENST00000412726:exon9:c.T1117G:p.L373V;	5.08832998797088E-4	0.042
18	50705487	G	A	18	53179117	y	y	splicing	DCC(NM_005215:exon9:c.1573+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1573+1G>A;ENST00000304775:exon8:c.1374+1G>A;ENST00000412726:exon9:c.1117+1G>A;ENST00000581580:exon6:c.538+1G>A)	.	.	0.999990361384395	0.936
18	50705487	G	C	18	53179117	y	y	splicing	DCC(NM_005215:exon9:c.1573+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1573+1G>C;ENST00000304775:exon8:c.1374+1G>C;ENST00000412726:exon9:c.1117+1G>C;ENST00000581580:exon6:c.538+1G>C)	.	.	0.999990361384395	0.936
18	50705487	G	T	18	53179117	y	y	splicing	DCC(NM_005215:exon9:c.1573+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1573+1G>T;ENST00000304775:exon8:c.1374+1G>T;ENST00000412726:exon9:c.1117+1G>T;ENST00000581580:exon6:c.538+1G>T)	.	.	0.999990361384395	0.936
18	50705488	T	A	18	53179118	y	y	splicing	DCC(NM_005215:exon9:c.1573+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1573+2T>A;ENST00000304775:exon8:c.1374+2T>A;ENST00000412726:exon9:c.1117+2T>A;ENST00000581580:exon6:c.538+2T>A)	.	.	0.999988247793601	0.93
18	50705488	T	C	18	53179118	y	y	splicing	DCC(NM_005215:exon9:c.1573+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1573+2T>C;ENST00000304775:exon8:c.1374+2T>C;ENST00000412726:exon9:c.1117+2T>C;ENST00000581580:exon6:c.538+2T>C)	.	.	0.999929727175276	0.882
18	50705488	T	G	18	53179118	y	y	splicing	DCC(NM_005215:exon9:c.1573+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon9:c.1573+2T>G;ENST00000304775:exon8:c.1374+2T>G;ENST00000412726:exon9:c.1117+2T>G;ENST00000581580:exon6:c.538+2T>G)	.	.	0.999988247793601	0.93
18	50705489	G	A	18	53179119	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.30876109615521E-4	0.056
18	50705489	G	C	18	53179119	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999337488030807	0.754
18	50705489	G	T	18	53179119	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999353099073047	0.726
18	50705490	A	C	18	53179120	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998840151000252	0.928
18	50705490	A	G	18	53179120	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999861905189309	0.97
18	50705490	A	T	18	53179120	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999778195535197	0.944
18	50705491	G	A	18	53179121	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99995987877705	0.99
18	50705491	G	C	18	53179121	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999973051612095	0.98
18	50705491	G	T	18	53179121	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999962436583952	0.986
18	50705492	T	A	18	53179122	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999301309661715	0.858
18	50705492	T	C	18	53179122	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999099956429842	0.982
18	50705492	T	G	18	53179122	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.996756944944485	0.924
18	50705493	A	C	18	53179123	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0400823259369551	0.062
18	50705493	A	G	18	53179123	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0299103358398389	0.064
18	50705493	A	T	18	53179123	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0545896008813414	0.202
18	50705494	T	A	18	53179124	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.84277650824098E-4	0.012
18	50705494	T	C	18	53179124	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.03577059960409E-5	0.01
18	50705494	T	G	18	53179124	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.54424070276374E-5	0.01
18	50731574	T	A	18	53205204	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00279153872039687	0.238
18	50731574	T	C	18	53205204	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.74796047480555E-5	0.0
18	50731574	T	G	18	53205204	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00145920177185418	0.22
18	50731575	T	A	18	53205205	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.33172853351295	0.394
18	50731575	T	C	18	53205205	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.31171231415626E-4	0.04
18	50731575	T	G	18	53205205	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0524918583184101	0.408
18	50731576	T	A	18	53205206	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0203633772492562	0.268
18	50731576	T	C	18	53205206	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.47845283434605E-5	0.0
18	50731576	T	G	18	53205206	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00184828448376164	0.266
18	50731577	T	A	18	53205207	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00361545774723094	0.206
18	50731577	T	C	18	53205207	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.04255532850685E-5	0.0
18	50731577	T	G	18	53205207	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00422592161271896	0.2
18	50731578	T	A	18	53205208	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.91337577651936E-4	0.048
18	50731578	T	C	18	53205208	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.06185565951143E-5	0.0
18	50731578	T	G	18	53205208	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.97634967401083E-4	0.044
18	50731579	T	A	18	53205209	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0412310757231086	0.3
18	50731579	T	C	18	53205209	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.49230125029302E-5	0.0
18	50731579	T	G	18	53205209	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.025784428564769	0.22
18	50731580	A	C	18	53205210	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.55945034759655E-5	0.004
18	50731580	A	G	18	53205210	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.01927161975295E-4	0.004
18	50731580	A	T	18	53205210	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.9353412535057E-5	0.012
18	50731581	T	A	18	53205211	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0650346912254177	0.438
18	50731581	T	C	18	53205211	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.00335682820573E-5	0.014
18	50731581	T	G	18	53205211	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999958939309389	0.94
18	50731582	A	C	18	53205212	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.84567801188823E-5	0.0
18	50731582	A	G	18	53205212	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.34629892006658E-4	0.002
18	50731582	A	T	18	53205212	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.20236303280911E-5	0.006
18	50731583	C	A	18	53205213	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998779799722892	0.678
18	50731583	C	G	18	53205213	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999708165552808	0.958
18	50731583	C	T	18	53205213	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0658147961676665	0.292
18	50731584	A	C	18	53205214	y	y	splicing	DCC(NM_005215:exon10:c.1574-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1574-2A>C;ENST00000304775:exon9:c.1375-2A>C;ENST00000412726:exon10:c.1118-2A>C;ENST00000581580:exon7:c.539-2A>C)	.	.	0.999988247793601	0.928
18	50731584	A	G	18	53205214	y	y	splicing	DCC(NM_005215:exon10:c.1574-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1574-2A>G;ENST00000304775:exon9:c.1375-2A>G;ENST00000412726:exon10:c.1118-2A>G;ENST00000581580:exon7:c.539-2A>G)	.	.	0.999988247793601	0.928
18	50731584	A	T	18	53205214	y	y	splicing	DCC(NM_005215:exon10:c.1574-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1574-2A>T;ENST00000304775:exon9:c.1375-2A>T;ENST00000412726:exon10:c.1118-2A>T;ENST00000581580:exon7:c.539-2A>T)	.	.	0.999988247793601	0.928
18	50731585	G	A	18	53205215	y	y	splicing	DCC(NM_005215:exon10:c.1574-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1574-1G>A;ENST00000304775:exon9:c.1375-1G>A;ENST00000412726:exon10:c.1118-1G>A;ENST00000581580:exon7:c.539-1G>A)	.	.	0.999990361384395	0.936
18	50731585	G	C	18	53205215	y	y	splicing	DCC(NM_005215:exon10:c.1574-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1574-1G>C;ENST00000304775:exon9:c.1375-1G>C;ENST00000412726:exon10:c.1118-1G>C;ENST00000581580:exon7:c.539-1G>C)	.	.	0.999990361384395	0.936
18	50731585	G	T	18	53205215	y	y	splicing	DCC(NM_005215:exon10:c.1574-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1574-1G>T;ENST00000304775:exon9:c.1375-1G>T;ENST00000412726:exon10:c.1118-1G>T;ENST00000581580:exon7:c.539-1G>T)	.	.	0.999990361384395	0.936
18	50731586	T	A	18	53205216	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon10:c.T1574A:p.L525X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon7:c.T539A:p.L180X;ENSG00000187323:ENST00000442544:exon10:c.T1574A:p.L525X;ENSG00000187323:ENST00000412726:exon10:c.T1118A:p.L373X;	0.663540209212235	0.786
18	50731586	T	C	18	53205216	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.T1574C:p.L525S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.T539C:p.L180S;ENSG00000187323:ENST00000442544:exon10:c.T1574C:p.L525S;ENSG00000187323:ENST00000412726:exon10:c.T1118C:p.L373S;	0.00426896712369586	0.036
18	50731586	T	G	18	53205216	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.T1574G:p.L525W;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.T539G:p.L180W;ENSG00000187323:ENST00000442544:exon10:c.T1574G:p.L525W;ENSG00000187323:ENST00000412726:exon10:c.T1118G:p.L373W;	0.00158163872222588	0.052
18	50731587	G	A	18	53205217	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon10:c.G1575A:p.L525L;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.G540A:p.L180L;ENSG00000187323:ENST00000442544:exon10:c.G1575A:p.L525L;ENSG00000187323:ENST00000412726:exon10:c.G1119A:p.L373L;	2.33220769302234E-4	0.032
18	50731587	G	C	18	53205217	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.G1575C:p.L525F;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.G540C:p.L180F;ENSG00000187323:ENST00000442544:exon10:c.G1575C:p.L525F;ENSG00000187323:ENST00000412726:exon10:c.G1119C:p.L373F;	1.81590288810989E-5	0.0
18	50731587	G	T	18	53205217	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.G1575T:p.L525F;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.G540T:p.L180F;ENSG00000187323:ENST00000442544:exon10:c.G1575T:p.L525F;ENSG00000187323:ENST00000412726:exon10:c.G1119T:p.L373F;	1.08202844521154E-5	0.0
18	50731732	C	A	18	53205362	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.C1720A:p.Q574K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.C685A:p.Q229K;ENSG00000187323:ENST00000442544:exon10:c.C1720A:p.Q574K;ENSG00000187323:ENST00000412726:exon10:c.C1264A:p.Q422K;	0.425532752184262	0.4
18	50731732	C	G	18	53205362	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.C1720G:p.Q574E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.C685G:p.Q229E;ENSG00000187323:ENST00000442544:exon10:c.C1720G:p.Q574E;ENSG00000187323:ENST00000412726:exon10:c.C1264G:p.Q422E;	0.119647364785812	0.156
18	50731732	C	T	18	53205362	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon10:c.C1720T:p.Q574X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon7:c.C685T:p.Q229X;ENSG00000187323:ENST00000442544:exon10:c.C1720T:p.Q574X;ENSG00000187323:ENST00000412726:exon10:c.C1264T:p.Q422X;	0.998017199565169	0.894
18	50731733	A	C	18	53205363	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.A1721C:p.Q574P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.A686C:p.Q229P;ENSG00000187323:ENST00000442544:exon10:c.A1721C:p.Q574P;ENSG00000187323:ENST00000412726:exon10:c.A1265C:p.Q422P;	0.822605903692126	0.732
18	50731733	A	G	18	53205363	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.A1721G:p.Q574R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.A686G:p.Q229R;ENSG00000187323:ENST00000442544:exon10:c.A1721G:p.Q574R;ENSG00000187323:ENST00000412726:exon10:c.A1265G:p.Q422R;	0.975464573290605	0.83
18	50731733	A	T	18	53205363	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.A1721T:p.Q574L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.A686T:p.Q229L;ENSG00000187323:ENST00000442544:exon10:c.A1721T:p.Q574L;ENSG00000187323:ENST00000412726:exon10:c.A1265T:p.Q422L;	0.99363005676684	0.942
18	50731734	G	A	18	53205364	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon10:c.G1722A:p.Q574Q;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.G687A:p.Q229Q;ENSG00000187323:ENST00000442544:exon10:c.G1722A:p.Q574Q;ENSG00000187323:ENST00000412726:exon10:c.G1266A:p.Q422Q;	0.998745846890724	0.888
18	50731734	G	C	18	53205364	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.G1722C:p.Q574H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.G687C:p.Q229H;ENSG00000187323:ENST00000442544:exon10:c.G1722C:p.Q574H;ENSG00000187323:ENST00000412726:exon10:c.G1266C:p.Q422H;	0.99992140313163	0.982
18	50731734	G	T	18	53205364	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon10:c.G1722T:p.Q574H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon7:c.G687T:p.Q229H;ENSG00000187323:ENST00000442544:exon10:c.G1722T:p.Q574H;ENSG00000187323:ENST00000412726:exon10:c.G1266T:p.Q422H;	0.999876894192012	0.986
18	50731735	G	A	18	53205365	y	y	splicing	DCC(NM_005215:exon10:c.1722+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1722+1G>A;ENST00000304775:exon9:c.1523+1G>A;ENST00000412726:exon10:c.1266+1G>A;ENST00000581580:exon7:c.687+1G>A)	.	.	0.999990361384395	0.936
18	50731735	G	C	18	53205365	y	y	splicing	DCC(NM_005215:exon10:c.1722+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1722+1G>C;ENST00000304775:exon9:c.1523+1G>C;ENST00000412726:exon10:c.1266+1G>C;ENST00000581580:exon7:c.687+1G>C)	.	.	0.999990361384395	0.936
18	50731735	G	T	18	53205365	y	y	splicing	DCC(NM_005215:exon10:c.1722+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1722+1G>T;ENST00000304775:exon9:c.1523+1G>T;ENST00000412726:exon10:c.1266+1G>T;ENST00000581580:exon7:c.687+1G>T)	.	.	0.999990361384395	0.936
18	50731736	T	A	18	53205366	y	y	splicing	DCC(NM_005215:exon10:c.1722+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1722+2T>A;ENST00000304775:exon9:c.1523+2T>A;ENST00000412726:exon10:c.1266+2T>A;ENST00000581580:exon7:c.687+2T>A)	.	.	0.999988247793601	0.93
18	50731736	T	C	18	53205366	y	y	splicing	DCC(NM_005215:exon10:c.1722+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1722+2T>C;ENST00000304775:exon9:c.1523+2T>C;ENST00000412726:exon10:c.1266+2T>C;ENST00000581580:exon7:c.687+2T>C)	.	.	0.988163425542712	0.678
18	50731736	T	G	18	53205366	y	y	splicing	DCC(NM_005215:exon10:c.1722+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon10:c.1722+2T>G;ENST00000304775:exon9:c.1523+2T>G;ENST00000412726:exon10:c.1266+2T>G;ENST00000581580:exon7:c.687+2T>G)	.	.	0.999988247793601	0.93
18	50731737	A	C	18	53205367	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.435728626983589	0.526
18	50731737	A	G	18	53205367	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00176675243415504	0.098
18	50731737	A	T	18	53205367	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.489937180116152	0.566
18	50731738	G	A	18	53205368	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.76382341585074E-4	0.028
18	50731738	G	C	18	53205368	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.33859498432896E-5	0.004
18	50731738	G	T	18	53205368	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.7577110864098E-5	0.026
18	50731739	G	A	18	53205369	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.992025658720675	0.698
18	50731739	G	C	18	53205369	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999458214735171	0.884
18	50731739	G	T	18	53205369	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999819857777548	0.878
18	50731740	T	A	18	53205370	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00237351448978366	0.146
18	50731740	T	C	18	53205370	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00615025178758129	0.228
18	50731740	T	G	18	53205370	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.84068433438124E-4	0.126
18	50731741	G	A	18	53205371	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.97666609728228E-5	0.0
18	50731741	G	C	18	53205371	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.24448830120472E-5	0.0
18	50731741	G	T	18	53205371	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.79314207206413E-5	0.0
18	50731742	A	C	18	53205372	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00189663912663513	0.006
18	50731742	A	G	18	53205372	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.95970473261091E-4	0.004
18	50731742	A	T	18	53205372	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0018460720297832	0.012
18	50734037	T	A	18	53207667	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0376590217147803	0.488
18	50734037	T	C	18	53207667	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.05377166172476E-4	0.04
18	50734037	T	G	18	53207667	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0871282393906627	0.48
18	50734038	T	A	18	53207668	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.697371492586245	0.48
18	50734038	T	C	18	53207668	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00441331509460013	0.188
18	50734038	T	G	18	53207668	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.44329727823732	0.52
18	50734039	A	C	18	53207669	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.31873730530706E-5	0.0
18	50734039	A	G	18	53207669	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.7932140751663E-5	0.0
18	50734039	A	T	18	53207669	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.31969226614125E-5	0.01
18	50734040	T	A	18	53207670	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999957296503403	0.97
18	50734040	T	C	18	53207670	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0021468102812514	0.11
18	50734040	T	G	18	53207670	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999959565495405	0.976
18	50734041	G	A	18	53207671	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.53398072640966E-5	0.004
18	50734041	G	C	18	53207671	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.79973310716145E-6	0.002
18	50734041	G	T	18	53207671	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.57932873863051E-5	0.002
18	50734042	T	A	18	53207672	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.900429222476839	0.634
18	50734042	T	C	18	53207672	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00112734685529438	0.068
18	50734042	T	G	18	53207672	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.652679935763477	0.56
18	50734043	C	A	18	53207673	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00379477768144834	0.18
18	50734043	C	G	18	53207673	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00254188053999781	0.172
18	50734043	C	T	18	53207673	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.73969394012322E-5	0.048
18	50734044	T	A	18	53207674	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.325605991350674	0.586
18	50734044	T	C	18	53207674	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0104962683310593	0.144
18	50734044	T	G	18	53207674	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.804413537128305	0.566
18	50734045	C	A	18	53207675	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00432723772284756	0.1
18	50734045	C	G	18	53207675	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0141129786754828	0.142
18	50734045	C	T	18	53207675	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00584317105830153	0.114
18	50734046	C	A	18	53207676	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999937313319225	0.944
18	50734046	C	G	18	53207676	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999957795512098	0.942
18	50734046	C	T	18	53207676	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.165941107346507	0.13
18	50734047	A	C	18	53207677	y	y	splicing	DCC(NM_005215:exon11:c.1723-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1723-2A>C;ENST00000304775:exon10:c.1524-2A>C;ENST00000412726:exon11:c.1267-2A>C;ENST00000581580:exon8:c.688-2A>C)	.	.	0.999986741007567	0.946
18	50734047	A	G	18	53207677	y	y	splicing	DCC(NM_005215:exon11:c.1723-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1723-2A>G;ENST00000304775:exon10:c.1524-2A>G;ENST00000412726:exon11:c.1267-2A>G;ENST00000581580:exon8:c.688-2A>G)	.	.	0.999986741007567	0.946
18	50734047	A	T	18	53207677	y	y	splicing	DCC(NM_005215:exon11:c.1723-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1723-2A>T;ENST00000304775:exon10:c.1524-2A>T;ENST00000412726:exon11:c.1267-2A>T;ENST00000581580:exon8:c.688-2A>T)	.	.	0.999986741007567	0.946
18	50734048	G	A	18	53207678	y	y	splicing	DCC(NM_005215:exon11:c.1723-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1723-1G>A;ENST00000304775:exon10:c.1524-1G>A;ENST00000412726:exon11:c.1267-1G>A;ENST00000581580:exon8:c.688-1G>A)	.	.	0.999989125585301	0.944
18	50734048	G	C	18	53207678	y	y	splicing	DCC(NM_005215:exon11:c.1723-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1723-1G>C;ENST00000304775:exon10:c.1524-1G>C;ENST00000412726:exon11:c.1267-1G>C;ENST00000581580:exon8:c.688-1G>C)	.	.	0.999989125585301	0.944
18	50734048	G	T	18	53207678	y	y	splicing	DCC(NM_005215:exon11:c.1723-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1723-1G>T;ENST00000304775:exon10:c.1524-1G>T;ENST00000412726:exon11:c.1267-1G>T;ENST00000581580:exon8:c.688-1G>T)	.	.	0.999989125585301	0.944
18	50734049	A	C	18	53207679	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1723C:p.N575H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A688C:p.N230H;ENSG00000187323:ENST00000442544:exon11:c.A1723C:p.N575H;ENSG00000187323:ENST00000412726:exon11:c.A1267C:p.N423H;	0.0630495645479601	0.262
18	50734049	A	G	18	53207679	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1723G:p.N575D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A688G:p.N230D;ENSG00000187323:ENST00000442544:exon11:c.A1723G:p.N575D;ENSG00000187323:ENST00000412726:exon11:c.A1267G:p.N423D;	0.00222557416558236	0.048
18	50734049	A	T	18	53207679	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1723T:p.N575Y;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A688T:p.N230Y;ENSG00000187323:ENST00000442544:exon11:c.A1723T:p.N575Y;ENSG00000187323:ENST00000412726:exon11:c.A1267T:p.N423Y;	0.0856990282851867	0.274
18	50734050	A	C	18	53207680	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1724C:p.N575T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A689C:p.N230T;ENSG00000187323:ENST00000442544:exon11:c.A1724C:p.N575T;ENSG00000187323:ENST00000412726:exon11:c.A1268C:p.N423T;	0.00496328976685879	0.108
18	50734050	A	G	18	53207680	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1724G:p.N575S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A689G:p.N230S;ENSG00000187323:ENST00000442544:exon11:c.A1724G:p.N575S;ENSG00000187323:ENST00000412726:exon11:c.A1268G:p.N423S;	0.00625150469398726	0.052
18	50734050	A	T	18	53207680	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1724T:p.N575I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A689T:p.N230I;ENSG00000187323:ENST00000442544:exon11:c.A1724T:p.N575I;ENSG00000187323:ENST00000412726:exon11:c.A1268T:p.N423I;	0.00160889526099623	0.032
18	50734185	A	C	18	53207815	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1859C:p.D620A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A824C:p.D275A;ENSG00000187323:ENST00000442544:exon11:c.A1859C:p.D620A;ENSG00000187323:ENST00000412726:exon11:c.A1403C:p.D468A;	0.0324344812184532	0.164
18	50734185	A	G	18	53207815	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1859G:p.D620G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A824G:p.D275G;ENSG00000187323:ENST00000442544:exon11:c.A1859G:p.D620G;ENSG00000187323:ENST00000412726:exon11:c.A1403G:p.D468G;	0.118142259103726	0.358
18	50734185	A	T	18	53207815	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.A1859T:p.D620V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.A824T:p.D275V;ENSG00000187323:ENST00000442544:exon11:c.A1859T:p.D620V;ENSG00000187323:ENST00000412726:exon11:c.A1403T:p.D468V;	0.324455073018661	0.306
18	50734186	C	A	18	53207816	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.C1860A:p.D620E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.C825A:p.D275E;ENSG00000187323:ENST00000442544:exon11:c.C1860A:p.D620E;ENSG00000187323:ENST00000412726:exon11:c.C1404A:p.D468E;	4.22229294275801E-5	0.072
18	50734186	C	G	18	53207816	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.C1860G:p.D620E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.C825G:p.D275E;ENSG00000187323:ENST00000442544:exon11:c.C1860G:p.D620E;ENSG00000187323:ENST00000412726:exon11:c.C1404G:p.D468E;	2.90557763546152E-4	0.018
18	50734186	C	T	18	53207816	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon11:c.C1860T:p.D620D;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.C825T:p.D275D;ENSG00000187323:ENST00000442544:exon11:c.C1860T:p.D620D;ENSG00000187323:ENST00000412726:exon11:c.C1404T:p.D468D;	9.45333307935926E-5	0.048
18	50734187	G	A	18	53207817	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.G1861A:p.V621M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.G826A:p.V276M;ENSG00000187323:ENST00000442544:exon11:c.G1861A:p.V621M;ENSG00000187323:ENST00000412726:exon11:c.G1405A:p.V469M;	0.999623189013377	0.936
18	50734187	G	C	18	53207817	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.G1861C:p.V621L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.G826C:p.V276L;ENSG00000187323:ENST00000442544:exon11:c.G1861C:p.V621L;ENSG00000187323:ENST00000412726:exon11:c.G1405C:p.V469L;	0.999896129302201	0.954
18	50734187	G	T	18	53207817	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon11:c.G1861T:p.V621L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon8:c.G826T:p.V276L;ENSG00000187323:ENST00000442544:exon11:c.G1861T:p.V621L;ENSG00000187323:ENST00000412726:exon11:c.G1405T:p.V469L;	0.999855608277271	0.95
18	50734188	G	A	18	53207818	y	y	splicing	DCC(NM_005215:exon11:c.1861+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1861+1G>A;ENST00000304775:exon10:c.1662+1G>A;ENST00000412726:exon11:c.1405+1G>A;ENST00000581580:exon8:c.826+1G>A)	.	.	0.999990982816642	0.93
18	50734188	G	C	18	53207818	y	y	splicing	DCC(NM_005215:exon11:c.1861+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1861+1G>C;ENST00000304775:exon10:c.1662+1G>C;ENST00000412726:exon11:c.1405+1G>C;ENST00000581580:exon8:c.826+1G>C)	.	.	0.999990982816642	0.93
18	50734188	G	T	18	53207818	y	y	splicing	DCC(NM_005215:exon11:c.1861+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1861+1G>T;ENST00000304775:exon10:c.1662+1G>T;ENST00000412726:exon11:c.1405+1G>T;ENST00000581580:exon8:c.826+1G>T)	.	.	0.999990982816642	0.93
18	50734189	T	A	18	53207819	y	y	splicing	DCC(NM_005215:exon11:c.1861+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1861+2T>A;ENST00000304775:exon10:c.1662+2T>A;ENST00000412726:exon11:c.1405+2T>A;ENST00000581580:exon8:c.826+2T>A)	.	.	0.999988247793601	0.93
18	50734189	T	C	18	53207819	y	y	splicing	DCC(NM_005215:exon11:c.1861+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1861+2T>C;ENST00000304775:exon10:c.1662+2T>C;ENST00000412726:exon11:c.1405+2T>C;ENST00000581580:exon8:c.826+2T>C)	.	.	0.992054276455321	0.656
18	50734189	T	G	18	53207819	y	y	splicing	DCC(NM_005215:exon11:c.1861+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon11:c.1861+2T>G;ENST00000304775:exon10:c.1662+2T>G;ENST00000412726:exon11:c.1405+2T>G;ENST00000581580:exon8:c.826+2T>G)	.	.	0.999988247793601	0.93
18	50734190	A	C	18	53207820	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.932340023340377	0.686
18	50734190	A	G	18	53207820	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00958184690024025	0.102
18	50734190	A	T	18	53207820	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.933107639147485	0.696
18	50734191	A	C	18	53207821	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.969481173951957	0.796
18	50734191	A	G	18	53207821	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997430911047148	0.832
18	50734191	A	T	18	53207821	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.993911311683851	0.832
18	50734192	G	A	18	53207822	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999824563874147	0.792
18	50734192	G	C	18	53207822	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999360872297927	0.808
18	50734192	G	T	18	53207822	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999600015895581	0.84
18	50734193	T	A	18	53207823	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.516318568558245	0.422
18	50734193	T	C	18	53207823	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.383804233336445	0.408
18	50734193	T	G	18	53207823	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0998432623244463	0.312
18	50734194	T	A	18	53207824	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.76074896990115E-5	0.002
18	50734194	T	C	18	53207824	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.05191810124354E-4	0.016
18	50734194	T	G	18	53207824	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.55453923326756E-5	0.006
18	50734195	A	C	18	53207825	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.52591899485722E-4	0.016
18	50734195	A	G	18	53207825	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.05309614883202E-4	0.0
18	50734195	A	T	18	53207825	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.44682472353823E-4	0.006
18	50741906	G	A	18	53215536	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.07931111204956E-4	0.036
18	50741906	G	C	18	53215536	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.95082376876012E-5	0.022
18	50741906	G	T	18	53215536	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.85086900443195E-5	0.02
18	50741907	A	C	18	53215537	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.49537864142529E-5	0.012
18	50741907	A	G	18	53215537	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.97117293391542E-5	0.002
18	50741907	A	T	18	53215537	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.93245066437221E-5	0.132
18	50741908	T	A	18	53215538	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999553791003885	0.932
18	50741908	T	C	18	53215538	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.92851669412179	0.486
18	50741908	T	G	18	53215538	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999969855455856	0.974
18	50741909	T	A	18	53215539	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.990487304015512	0.822
18	50741909	T	C	18	53215539	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0211359056183272	0.122
18	50741909	T	G	18	53215539	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.926652451992549	0.768
18	50741910	C	A	18	53215540	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00121053880100201	0.164
18	50741910	C	G	18	53215540	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.50665913648138E-4	0.176
18	50741910	C	T	18	53215540	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.94529097558475E-5	0.006
18	50741911	C	A	18	53215541	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0163872940579589	0.086
18	50741911	C	G	18	53215541	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0130102608432943	0.098
18	50741911	C	T	18	53215541	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.88775420027004E-4	0.0
18	50741912	T	A	18	53215542	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999384331550624	0.9
18	50741912	T	C	18	53215542	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.943308545952084	0.628
18	50741912	T	G	18	53215542	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999187351318772	0.908
18	50741913	T	A	18	53215543	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99983944765545	0.966
18	50741913	T	C	18	53215543	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.957344518978747	0.562
18	50741913	T	G	18	53215543	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999774907192159	0.97
18	50741914	T	A	18	53215544	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.80851560192592E-4	0.01
18	50741914	T	C	18	53215544	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.56937814522302E-5	0.0
18	50741914	T	G	18	53215544	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.31537923036055E-4	0.104
18	50741915	T	A	18	53215545	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0100018338081648	0.274
18	50741915	T	C	18	53215545	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.63328124054661E-6	0.008
18	50741915	T	G	18	53215545	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.97694035705951	0.68
18	50741916	A	C	18	53215546	y	y	splicing	DCC(NM_005215:exon12:c.1862-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1862-2A>C;ENST00000304775:exon11:c.1663-2A>C;ENST00000412726:exon12:c.1406-2A>C;ENST00000581580:exon9:c.827-2A>C)	.	.	0.999988247793601	0.95
18	50741916	A	G	18	53215546	y	y	splicing	DCC(NM_005215:exon12:c.1862-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1862-2A>G;ENST00000304775:exon11:c.1663-2A>G;ENST00000412726:exon12:c.1406-2A>G;ENST00000581580:exon9:c.827-2A>G)	.	.	0.999988247793601	0.95
18	50741916	A	T	18	53215546	y	y	splicing	DCC(NM_005215:exon12:c.1862-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1862-2A>T;ENST00000304775:exon11:c.1663-2A>T;ENST00000412726:exon12:c.1406-2A>T;ENST00000581580:exon9:c.827-2A>T)	.	.	0.999988247793601	0.95
18	50741917	G	A	18	53215547	y	y	splicing	DCC(NM_005215:exon12:c.1862-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1862-1G>A;ENST00000304775:exon11:c.1663-1G>A;ENST00000412726:exon12:c.1406-1G>A;ENST00000581580:exon9:c.827-1G>A)	.	.	0.999990361384395	0.948
18	50741917	G	C	18	53215547	y	y	splicing	DCC(NM_005215:exon12:c.1862-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1862-1G>C;ENST00000304775:exon11:c.1663-1G>C;ENST00000412726:exon12:c.1406-1G>C;ENST00000581580:exon9:c.827-1G>C)	.	.	0.999990361384395	0.948
18	50741917	G	T	18	53215547	y	y	splicing	DCC(NM_005215:exon12:c.1862-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1862-1G>T;ENST00000304775:exon11:c.1663-1G>T;ENST00000412726:exon12:c.1406-1G>T;ENST00000581580:exon9:c.827-1G>T)	.	.	0.999990361384395	0.948
18	50741918	T	A	18	53215548	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.T1862A:p.V621E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.T827A:p.V276E;ENSG00000187323:ENST00000442544:exon12:c.T1862A:p.V621E;ENSG00000187323:ENST00000412726:exon12:c.T1406A:p.V469E;	0.0142674089130472	0.132
18	50741918	T	C	18	53215548	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.T1862C:p.V621A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.T827C:p.V276A;ENSG00000187323:ENST00000442544:exon12:c.T1862C:p.V621A;ENSG00000187323:ENST00000412726:exon12:c.T1406C:p.V469A;	0.208486580327902	0.218
18	50741918	T	G	18	53215548	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.T1862G:p.V621G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.T827G:p.V276G;ENSG00000187323:ENST00000442544:exon12:c.T1862G:p.V621G;ENSG00000187323:ENST00000412726:exon12:c.T1406G:p.V469G;	0.00375242802988209	0.08
18	50741919	G	A	18	53215549	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon12:c.G1863A:p.V621V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.G828A:p.V276V;ENSG00000187323:ENST00000442544:exon12:c.G1863A:p.V621V;ENSG00000187323:ENST00000412726:exon12:c.G1407A:p.V469V;	0.144758185396816	0.332
18	50741919	G	C	18	53215549	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon12:c.G1863C:p.V621V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.G828C:p.V276V;ENSG00000187323:ENST00000442544:exon12:c.G1863C:p.V621V;ENSG00000187323:ENST00000412726:exon12:c.G1407C:p.V469V;	0.0677785085079095	0.196
18	50741919	G	T	18	53215549	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon12:c.G1863T:p.V621V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.G828T:p.V276V;ENSG00000187323:ENST00000442544:exon12:c.G1863T:p.V621V;ENSG00000187323:ENST00000412726:exon12:c.G1407T:p.V469V;	0.0220532977046069	0.174
18	50741965	A	C	18	53215595	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon12:c.A1909C:p.R637R;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.A874C:p.R292R;ENSG00000187323:ENST00000442544:exon12:c.A1909C:p.R637R;ENSG00000187323:ENST00000412726:exon12:c.A1453C:p.R485R;	0.00207395025031712	0.012
18	50741965	A	G	18	53215595	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.A1909G:p.R637G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.A874G:p.R292G;ENSG00000187323:ENST00000442544:exon12:c.A1909G:p.R637G;ENSG00000187323:ENST00000412726:exon12:c.A1453G:p.R485G;	0.00238401901164817	0.072
18	50741965	A	T	18	53215595	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon12:c.A1909T:p.R637X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon9:c.A874T:p.R292X;ENSG00000187323:ENST00000442544:exon12:c.A1909T:p.R637X;ENSG00000187323:ENST00000412726:exon12:c.A1453T:p.R485X;	0.994502764167525	0.66
18	50741966	G	A	18	53215596	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.G1910A:p.R637K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.G875A:p.R292K;ENSG00000187323:ENST00000442544:exon12:c.G1910A:p.R637K;ENSG00000187323:ENST00000412726:exon12:c.G1454A:p.R485K;	0.0149374010524397	0.086
18	50741966	G	C	18	53215596	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.G1910C:p.R637T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.G875C:p.R292T;ENSG00000187323:ENST00000442544:exon12:c.G1910C:p.R637T;ENSG00000187323:ENST00000412726:exon12:c.G1454C:p.R485T;	0.0132659554356065	0.084
18	50741966	G	T	18	53215596	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.G1910T:p.R637I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.G875T:p.R292I;ENSG00000187323:ENST00000442544:exon12:c.G1910T:p.R637I;ENSG00000187323:ENST00000412726:exon12:c.G1454T:p.R485I;	0.0779864547525701	0.152
18	50741967	A	C	18	53215597	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.A1911C:p.R637S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.A876C:p.R292S;ENSG00000187323:ENST00000442544:exon12:c.A1911C:p.R637S;ENSG00000187323:ENST00000412726:exon12:c.A1455C:p.R485S;	7.4344846519984E-5	0.016
18	50741967	A	G	18	53215597	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon12:c.A1911G:p.R637R;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.A876G:p.R292R;ENSG00000187323:ENST00000442544:exon12:c.A1911G:p.R637R;ENSG00000187323:ENST00000412726:exon12:c.A1455G:p.R485R;	2.17590691309611E-5	0.026
18	50741967	A	T	18	53215597	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon12:c.A1911T:p.R637S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon9:c.A876T:p.R292S;ENSG00000187323:ENST00000442544:exon12:c.A1911T:p.R637S;ENSG00000187323:ENST00000412726:exon12:c.A1455T:p.R485S;	2.66076049496719E-4	0.048
18	50741968	G	A	18	53215598	y	y	splicing	DCC(NM_005215:exon12:c.1911+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1911+1G>A;ENST00000304775:exon11:c.1712+1G>A;ENST00000412726:exon12:c.1455+1G>A;ENST00000581580:exon9:c.876+1G>A)	.	.	0.99995586615188	0.948
18	50741968	G	C	18	53215598	y	y	splicing	DCC(NM_005215:exon12:c.1911+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1911+1G>C;ENST00000304775:exon11:c.1712+1G>C;ENST00000412726:exon12:c.1455+1G>C;ENST00000581580:exon9:c.876+1G>C)	.	.	0.99995586615188	0.932
18	50741968	G	T	18	53215598	y	y	splicing	DCC(NM_005215:exon12:c.1911+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1911+1G>T;ENST00000304775:exon11:c.1712+1G>T;ENST00000412726:exon12:c.1455+1G>T;ENST00000581580:exon9:c.876+1G>T)	.	.	0.99995586615188	0.946
18	50741969	T	A	18	53215599	y	y	splicing	DCC(NM_005215:exon12:c.1911+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1911+2T>A;ENST00000304775:exon11:c.1712+2T>A;ENST00000412726:exon12:c.1455+2T>A;ENST00000581580:exon9:c.876+2T>A)	.	.	0.999946188727699	0.948
18	50741969	T	C	18	53215599	y	y	splicing	DCC(NM_005215:exon12:c.1911+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1911+2T>C;ENST00000304775:exon11:c.1712+2T>C;ENST00000412726:exon12:c.1455+2T>C;ENST00000581580:exon9:c.876+2T>C)	.	.	0.95755789858141	0.662
18	50741969	T	G	18	53215599	y	y	splicing	DCC(NM_005215:exon12:c.1911+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon12:c.1911+2T>G;ENST00000304775:exon11:c.1712+2T>G;ENST00000412726:exon12:c.1455+2T>G;ENST00000581580:exon9:c.876+2T>G)	.	.	0.999946188727699	0.932
18	50741970	A	C	18	53215600	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999681865661683	0.908
18	50741970	A	G	18	53215600	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00885024935168379	0.224
18	50741970	A	T	18	53215600	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999579493694322	0.91
18	50741971	A	C	18	53215601	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.810462669197383	0.678
18	50741971	A	G	18	53215601	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.992037057184309	0.832
18	50741971	A	T	18	53215601	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.980546190988124	0.822
18	50741972	G	A	18	53215602	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999988229870557	0.996
18	50741972	G	C	18	53215602	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999995308362077	0.984
18	50741972	G	T	18	53215602	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999988877708164	0.998
18	50741973	T	A	18	53215603	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.899258180160155	0.584
18	50741973	T	C	18	53215603	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.867143114793272	0.646
18	50741973	T	G	18	53215603	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.988928018972831	0.732
18	50741974	T	A	18	53215604	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.61972261286381E-5	0.0
18	50741974	T	C	18	53215604	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.04860152160254E-5	0.0
18	50741974	T	G	18	53215604	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.04860152160254E-5	0.0
18	50741975	G	A	18	53215605	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.36197223307862E-5	0.0
18	50741975	G	C	18	53215605	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.36197223307862E-5	0.0
18	50741975	G	T	18	53215605	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.51290618449768E-5	0.0
18	50831936	A	C	18	53305566	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.85049182094541E-5	0.002
18	50831936	A	G	18	53305566	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.46439863490747E-4	0.012
18	50831936	A	T	18	53305566	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.03817136706197E-4	0.012
18	50831937	T	A	18	53305567	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99594335399343	0.746
18	50831937	T	C	18	53305567	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.142064987146187	0.31
18	50831937	T	G	18	53305567	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999845190751946	0.956
18	50831938	T	A	18	53305568	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998733551797123	0.878
18	50831938	T	C	18	53305568	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.484036804080655	0.35
18	50831938	T	G	18	53305568	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997723927160614	0.86
18	50831939	A	C	18	53305569	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0383498486297549	0.166
18	50831939	A	G	18	53305569	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0583233599398493	0.172
18	50831939	A	T	18	53305569	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0258498884543796	0.25
18	50831940	T	A	18	53305570	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.695472018270752	0.634
18	50831940	T	C	18	53305570	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00435953257779725	0.086
18	50831940	T	G	18	53305570	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999870494810798	0.94
18	50831941	T	A	18	53305571	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.232278943094126	0.366
18	50831941	T	C	18	53305571	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.46289035923399E-5	0.03
18	50831941	T	G	18	53305571	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.163555471884899	0.228
18	50831942	T	A	18	53305572	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.98644340401339	0.862
18	50831942	T	C	18	53305572	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00285888709581743	0.076
18	50831942	T	G	18	53305572	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.987474343912969	0.85
18	50831943	T	A	18	53305573	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.694599378064525	0.684
18	50831943	T	C	18	53305573	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0019132351124099	0.024
18	50831943	T	G	18	53305573	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.967077276485619	0.792
18	50831944	A	C	18	53305574	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.28244483155185E-4	0.002
18	50831944	A	G	18	53305574	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.6245261935544E-4	0.214
18	50831944	A	T	18	53305574	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.67433103614E-5	0.014
18	50831945	C	A	18	53305575	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999799833001386	0.946
18	50831945	C	G	18	53305575	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999928555745806	0.958
18	50831945	C	T	18	53305575	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.468370631734416	0.252
18	50831946	A	C	18	53305576	y	y	splicing	DCC(NM_005215:exon13:c.1912-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.1912-2A>C;ENST00000304775:exon12:c.1713-2A>C;ENST00000412726:exon13:c.1456-2A>C;ENST00000581580:exon10:c.877-2A>C)	.	.	0.999988247793601	0.93
18	50831946	A	G	18	53305576	y	y	splicing	DCC(NM_005215:exon13:c.1912-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.1912-2A>G;ENST00000304775:exon12:c.1713-2A>G;ENST00000412726:exon13:c.1456-2A>G;ENST00000581580:exon10:c.877-2A>G)	.	.	0.999988247793601	0.93
18	50831946	A	T	18	53305576	y	y	splicing	DCC(NM_005215:exon13:c.1912-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.1912-2A>T;ENST00000304775:exon12:c.1713-2A>T;ENST00000412726:exon13:c.1456-2A>T;ENST00000581580:exon10:c.877-2A>T)	.	.	0.999988247793601	0.93
18	50831947	G	A	18	53305577	y	y	splicing	DCC(NM_005215:exon13:c.1912-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.1912-1G>A;ENST00000304775:exon12:c.1713-1G>A;ENST00000412726:exon13:c.1456-1G>A;ENST00000581580:exon10:c.877-1G>A)	.	.	0.999989072007339	0.934
18	50831947	G	C	18	53305577	y	y	splicing	DCC(NM_005215:exon13:c.1912-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.1912-1G>C;ENST00000304775:exon12:c.1713-1G>C;ENST00000412726:exon13:c.1456-1G>C;ENST00000581580:exon10:c.877-1G>C)	.	.	0.999989072007339	0.934
18	50831947	G	T	18	53305577	y	y	splicing	DCC(NM_005215:exon13:c.1912-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.1912-1G>T;ENST00000304775:exon12:c.1713-1G>T;ENST00000412726:exon13:c.1456-1G>T;ENST00000581580:exon10:c.877-1G>T)	.	.	0.999989072007339	0.934
18	50831948	A	C	18	53305578	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.A1912C:p.S638R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.A877C:p.S293R;ENSG00000187323:ENST00000442544:exon13:c.A1912C:p.S638R;ENSG00000187323:ENST00000412726:exon13:c.A1456C:p.S486R;	0.246127937796872	0.338
18	50831948	A	G	18	53305578	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.A1912G:p.S638G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.A877G:p.S293G;ENSG00000187323:ENST00000442544:exon13:c.A1912G:p.S638G;ENSG00000187323:ENST00000412726:exon13:c.A1456G:p.S486G;	0.0132825067096657	0.268
18	50831948	A	T	18	53305578	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.A1912T:p.S638C;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.A877T:p.S293C;ENSG00000187323:ENST00000442544:exon13:c.A1912T:p.S638C;ENSG00000187323:ENST00000412726:exon13:c.A1456T:p.S486C;	0.0880198781913728	0.284
18	50831949	G	A	18	53305579	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.G1913A:p.S638N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.G878A:p.S293N;ENSG00000187323:ENST00000442544:exon13:c.G1913A:p.S638N;ENSG00000187323:ENST00000412726:exon13:c.G1457A:p.S486N;	0.0328983138325647	0.108
18	50831949	G	C	18	53305579	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.G1913C:p.S638T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.G878C:p.S293T;ENSG00000187323:ENST00000442544:exon13:c.G1913C:p.S638T;ENSG00000187323:ENST00000412726:exon13:c.G1457C:p.S486T;	0.00375195178259929	0.084
18	50831949	G	T	18	53305579	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.G1913T:p.S638I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.G878T:p.S293I;ENSG00000187323:ENST00000442544:exon13:c.G1913T:p.S638I;ENSG00000187323:ENST00000412726:exon13:c.G1457T:p.S486I;	0.00695566770395867	0.064
18	50832087	C	A	18	53305717	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.C2051A:p.T684K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.C1016A:p.T339K;ENSG00000187323:ENST00000442544:exon13:c.C2051A:p.T684K;ENSG00000187323:ENST00000412726:exon13:c.C1595A:p.T532K;	0.916764195728922	0.766
18	50832087	C	G	18	53305717	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.C2051G:p.T684R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.C1016G:p.T339R;ENSG00000187323:ENST00000442544:exon13:c.C2051G:p.T684R;ENSG00000187323:ENST00000412726:exon13:c.C1595G:p.T532R;	0.978557005081991	0.63
18	50832087	C	T	18	53305717	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.C2051T:p.T684I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.C1016T:p.T339I;ENSG00000187323:ENST00000442544:exon13:c.C2051T:p.T684I;ENSG00000187323:ENST00000412726:exon13:c.C1595T:p.T532I;	0.999241230947108	0.892
18	50832088	A	C	18	53305718	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon13:c.A2052C:p.T684T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.A1017C:p.T339T;ENSG00000187323:ENST00000442544:exon13:c.A2052C:p.T684T;ENSG00000187323:ENST00000412726:exon13:c.A1596C:p.T532T;	0.990791787286161	0.984
18	50832088	A	G	18	53305718	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon13:c.A2052G:p.T684T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.A1017G:p.T339T;ENSG00000187323:ENST00000442544:exon13:c.A2052G:p.T684T;ENSG00000187323:ENST00000412726:exon13:c.A1596G:p.T532T;	0.997552142758235	0.996
18	50832088	A	T	18	53305718	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon13:c.A2052T:p.T684T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.A1017T:p.T339T;ENSG00000187323:ENST00000442544:exon13:c.A2052T:p.T684T;ENSG00000187323:ENST00000412726:exon13:c.A1596T:p.T532T;	0.998330244312492	0.996
18	50832089	G	A	18	53305719	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.G2053A:p.G685R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.G1018A:p.G340R;ENSG00000187323:ENST00000442544:exon13:c.G2053A:p.G685R;ENSG00000187323:ENST00000412726:exon13:c.G1597A:p.G533R;	0.999978065274071	1.0
18	50832089	G	C	18	53305719	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon13:c.G2053C:p.G685R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon10:c.G1018C:p.G340R;ENSG00000187323:ENST00000442544:exon13:c.G2053C:p.G685R;ENSG00000187323:ENST00000412726:exon13:c.G1597C:p.G533R;	0.99999381947694	1.0
18	50832089	G	T	18	53305719	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon13:c.G2053T:p.G685X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon10:c.G1018T:p.G340X;ENSG00000187323:ENST00000442544:exon13:c.G2053T:p.G685X;ENSG00000187323:ENST00000412726:exon13:c.G1597T:p.G533X;	0.9999863100795	0.992
18	50832090	G	A	18	53305720	y	y	splicing	DCC(NM_005215:exon13:c.2053+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.2053+1G>A;ENST00000304775:exon12:c.1854+1G>A;ENST00000412726:exon13:c.1597+1G>A;ENST00000581580:exon10:c.1018+1G>A)	.	.	0.999990361384395	0.93
18	50832090	G	C	18	53305720	y	y	splicing	DCC(NM_005215:exon13:c.2053+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.2053+1G>C;ENST00000304775:exon12:c.1854+1G>C;ENST00000412726:exon13:c.1597+1G>C;ENST00000581580:exon10:c.1018+1G>C)	.	.	0.999990361384395	0.93
18	50832090	G	T	18	53305720	y	y	splicing	DCC(NM_005215:exon13:c.2053+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.2053+1G>T;ENST00000304775:exon12:c.1854+1G>T;ENST00000412726:exon13:c.1597+1G>T;ENST00000581580:exon10:c.1018+1G>T)	.	.	0.999990361384395	0.93
18	50832091	T	A	18	53305721	y	y	splicing	DCC(NM_005215:exon13:c.2053+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.2053+2T>A;ENST00000304775:exon12:c.1854+2T>A;ENST00000412726:exon13:c.1597+2T>A;ENST00000581580:exon10:c.1018+2T>A)	.	.	0.999988247793601	0.922
18	50832091	T	C	18	53305721	y	y	splicing	DCC(NM_005215:exon13:c.2053+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.2053+2T>C;ENST00000304775:exon12:c.1854+2T>C;ENST00000412726:exon13:c.1597+2T>C;ENST00000581580:exon10:c.1018+2T>C)	.	.	0.99340600729494	0.712
18	50832091	T	G	18	53305721	y	y	splicing	DCC(NM_005215:exon13:c.2053+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon13:c.2053+2T>G;ENST00000304775:exon12:c.1854+2T>G;ENST00000412726:exon13:c.1597+2T>G;ENST00000581580:exon10:c.1018+2T>G)	.	.	0.999988247793601	0.922
18	50832092	C	A	18	53305722	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00125098444208217	0.096
18	50832092	C	G	18	53305722	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00107099962582203	0.072
18	50832092	C	T	18	53305722	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00782469711890151	0.206
18	50832093	A	C	18	53305723	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.905518912589599	0.464
18	50832093	A	G	18	53305723	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.83964454282707	0.446
18	50832093	A	T	18	53305723	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.969579427511962	0.578
18	50832094	G	A	18	53305724	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999376438082587	0.872
18	50832094	G	C	18	53305724	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999752500765484	0.766
18	50832094	G	T	18	53305724	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99980291911382	0.9
18	50832095	T	A	18	53305725	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.986666457864033	0.714
18	50832095	T	C	18	53305725	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.973955541832558	0.786
18	50832095	T	G	18	53305725	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.961645180746814	0.704
18	50832096	G	A	18	53305726	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00782870506052673	0.048
18	50832096	G	C	18	53305726	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00855166097471971	0.048
18	50832096	G	T	18	53305726	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.012714241877929	0.038
18	50832097	T	A	18	53305727	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.46793407640872E-4	0.002
18	50832097	T	C	18	53305727	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.41254843425346E-4	0.008
18	50832097	T	G	18	53305727	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.01907753950363E-4	0.008
18	50848405	A	C	18	53322035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.24105356171807E-5	0.002
18	50848405	A	G	18	53322035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99946960935003	0.982
18	50848405	A	T	18	53322035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.73296607719829E-4	0.116
18	50848406	T	A	18	53322036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.626073844148368	0.75
18	50848406	T	C	18	53322036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.65774035033238	0.566
18	50848406	T	G	18	53322036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999968905088362	0.958
18	50848407	T	A	18	53322037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.635335745748251	0.566
18	50848407	T	C	18	53322037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.48314665903859E-4	0.058
18	50848407	T	G	18	53322037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0278903817828936	0.478
18	50848408	C	A	18	53322038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00194491364647353	0.106
18	50848408	C	G	18	53322038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00367137990608903	0.106
18	50848408	C	T	18	53322038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.96244093240322E-5	0.016
18	50848409	T	A	18	53322039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00188576110686967	0.106
18	50848409	T	C	18	53322039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.39478973721334E-4	0.008
18	50848409	T	G	18	53322039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.46359303381754E-4	0.074
18	50848410	T	A	18	53322040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00296233979056461	0.08
18	50848410	T	C	18	53322040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.74800434527385E-5	0.0
18	50848410	T	G	18	53322040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00143953900997635	0.026
18	50848411	T	A	18	53322041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0238190914731918	0.304
18	50848411	T	C	18	53322041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.69051073557943E-5	0.008
18	50848411	T	G	18	53322041	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0229486254534678	0.332
18	50848412	C	A	18	53322042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.27422940813368E-4	0.014
18	50848412	C	G	18	53322042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.19281952842026E-4	0.062
18	50848412	C	T	18	53322042	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.74213353921879E-5	0.0
18	50848413	A	C	18	53322043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.38534913595571E-5	0.0
18	50848413	A	G	18	53322043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.28685777520185E-4	0.05
18	50848413	A	T	18	53322043	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.5237657175697E-5	0.002
18	50848414	T	A	18	53322044	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0331509694104355	0.31
18	50848414	T	C	18	53322044	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.15862537042964E-4	0.022
18	50848414	T	G	18	53322044	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.994879188748299	0.71
18	50848415	A	C	18	53322045	y	y	splicing	DCC(NM_005215:exon14:c.2054-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2054-2A>C;ENST00000304775:exon13:c.1855-2A>C;ENST00000412726:exon14:c.1598-2A>C;ENST00000581580:exon11:c.1019-2A>C)	.	.	0.999988247793601	0.948
18	50848415	A	G	18	53322045	y	y	splicing	DCC(NM_005215:exon14:c.2054-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2054-2A>G;ENST00000304775:exon13:c.1855-2A>G;ENST00000412726:exon14:c.1598-2A>G;ENST00000581580:exon11:c.1019-2A>G)	.	.	0.999988247793601	0.948
18	50848415	A	T	18	53322045	y	y	splicing	DCC(NM_005215:exon14:c.2054-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2054-2A>T;ENST00000304775:exon13:c.1855-2A>T;ENST00000412726:exon14:c.1598-2A>T;ENST00000581580:exon11:c.1019-2A>T)	.	.	0.999988247793601	0.948
18	50848416	G	A	18	53322046	y	y	splicing	DCC(NM_005215:exon14:c.2054-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2054-1G>A;ENST00000304775:exon13:c.1855-1G>A;ENST00000412726:exon14:c.1598-1G>A;ENST00000581580:exon11:c.1019-1G>A)	.	.	0.999986675681007	0.942
18	50848416	G	C	18	53322046	y	y	splicing	DCC(NM_005215:exon14:c.2054-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2054-1G>C;ENST00000304775:exon13:c.1855-1G>C;ENST00000412726:exon14:c.1598-1G>C;ENST00000581580:exon11:c.1019-1G>C)	.	.	0.999986675681007	0.942
18	50848416	G	T	18	53322046	y	y	splicing	DCC(NM_005215:exon14:c.2054-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2054-1G>T;ENST00000304775:exon13:c.1855-1G>T;ENST00000412726:exon14:c.1598-1G>T;ENST00000581580:exon11:c.1019-1G>T)	.	.	0.999986675681007	0.942
18	50848417	G	A	18	53322047	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.G2054A:p.G685E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.G1019A:p.G340E;ENSG00000187323:ENST00000442544:exon14:c.G2054A:p.G685E;ENSG00000187323:ENST00000412726:exon14:c.G1598A:p.G533E;	0.998575038864274	0.89
18	50848417	G	C	18	53322047	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.G2054C:p.G685A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.G1019C:p.G340A;ENSG00000187323:ENST00000442544:exon14:c.G2054C:p.G685A;ENSG00000187323:ENST00000412726:exon14:c.G1598C:p.G533A;	0.999653029303263	0.958
18	50848417	G	T	18	53322047	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.G2054T:p.G685V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.G1019T:p.G340V;ENSG00000187323:ENST00000442544:exon14:c.G2054T:p.G685V;ENSG00000187323:ENST00000412726:exon14:c.G1598T:p.G533V;	0.999780748693242	0.992
18	50848418	A	C	18	53322048	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon14:c.A2055C:p.G685G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.A1020C:p.G340G;ENSG00000187323:ENST00000442544:exon14:c.A2055C:p.G685G;ENSG00000187323:ENST00000412726:exon14:c.A1599C:p.G533G;	0.00104108833924396	0.028
18	50848418	A	G	18	53322048	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon14:c.A2055G:p.G685G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.A1020G:p.G340G;ENSG00000187323:ENST00000442544:exon14:c.A2055G:p.G685G;ENSG00000187323:ENST00000412726:exon14:c.A1599G:p.G533G;	4.86068711927553E-4	0.03
18	50848418	A	T	18	53322048	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon14:c.A2055T:p.G685G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.A1020T:p.G340G;ENSG00000187323:ENST00000442544:exon14:c.A2055T:p.G685G;ENSG00000187323:ENST00000412726:exon14:c.A1599T:p.G533G;	9.89467081419159E-5	0.008
18	50848525	A	C	18	53322155	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.A2162C:p.D721A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.A1127C:p.D376A;ENSG00000187323:ENST00000442544:exon14:c.A2162C:p.D721A;ENSG00000187323:ENST00000412726:exon14:c.A1706C:p.D569A;	0.00337953035910142	0.04
18	50848525	A	G	18	53322155	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.A2162G:p.D721G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.A1127G:p.D376G;ENSG00000187323:ENST00000442544:exon14:c.A2162G:p.D721G;ENSG00000187323:ENST00000412726:exon14:c.A1706G:p.D569G;	0.0229267459422616	0.206
18	50848525	A	T	18	53322155	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.A2162T:p.D721V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.A1127T:p.D376V;ENSG00000187323:ENST00000442544:exon14:c.A2162T:p.D721V;ENSG00000187323:ENST00000412726:exon14:c.A1706T:p.D569V;	0.191988276938822	0.31
18	50848526	T	A	18	53322156	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.T2163A:p.D721E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.T1128A:p.D376E;ENSG00000187323:ENST00000442544:exon14:c.T2163A:p.D721E;ENSG00000187323:ENST00000412726:exon14:c.T1707A:p.D569E;	1.88004895351399E-4	0.166
18	50848526	T	C	18	53322156	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon14:c.T2163C:p.D721D;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.T1128C:p.D376D;ENSG00000187323:ENST00000442544:exon14:c.T2163C:p.D721D;ENSG00000187323:ENST00000412726:exon14:c.T1707C:p.D569D;	5.75105216951442E-5	0.0
18	50848526	T	G	18	53322156	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.T2163G:p.D721E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.T1128G:p.D376E;ENSG00000187323:ENST00000442544:exon14:c.T2163G:p.D721E;ENSG00000187323:ENST00000412726:exon14:c.T1707G:p.D569E;	3.96231834731891E-4	0.034
18	50848527	G	A	18	53322157	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.G2164A:p.E722K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.G1129A:p.E377K;ENSG00000187323:ENST00000442544:exon14:c.G2164A:p.E722K;ENSG00000187323:ENST00000412726:exon14:c.G1708A:p.E570K;	0.999935857103124	0.984
18	50848527	G	C	18	53322157	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon14:c.G2164C:p.E722Q;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon11:c.G1129C:p.E377Q;ENSG00000187323:ENST00000442544:exon14:c.G2164C:p.E722Q;ENSG00000187323:ENST00000412726:exon14:c.G1708C:p.E570Q;	0.999971264241033	0.976
18	50848527	G	T	18	53322157	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon14:c.G2164T:p.E722X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon11:c.G1129T:p.E377X;ENSG00000187323:ENST00000442544:exon14:c.G2164T:p.E722X;ENSG00000187323:ENST00000412726:exon14:c.G1708T:p.E570X;	0.999981451813413	0.984
18	50848528	G	A	18	53322158	y	y	splicing	DCC(NM_005215:exon14:c.2164+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2164+1G>A;ENST00000304775:exon13:c.1965+1G>A;ENST00000412726:exon14:c.1708+1G>A;ENST00000581580:exon11:c.1129+1G>A)	.	.	0.999990361384395	0.936
18	50848528	G	C	18	53322158	y	y	splicing	DCC(NM_005215:exon14:c.2164+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2164+1G>C;ENST00000304775:exon13:c.1965+1G>C;ENST00000412726:exon14:c.1708+1G>C;ENST00000581580:exon11:c.1129+1G>C)	.	.	0.999990361384395	0.936
18	50848528	G	T	18	53322158	y	y	splicing	DCC(NM_005215:exon14:c.2164+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2164+1G>T;ENST00000304775:exon13:c.1965+1G>T;ENST00000412726:exon14:c.1708+1G>T;ENST00000581580:exon11:c.1129+1G>T)	.	.	0.999990361384395	0.936
18	50848529	T	A	18	53322159	y	y	splicing	DCC(NM_005215:exon14:c.2164+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2164+2T>A;ENST00000304775:exon13:c.1965+2T>A;ENST00000412726:exon14:c.1708+2T>A;ENST00000581580:exon11:c.1129+2T>A)	.	.	0.999988247793601	0.93
18	50848529	T	C	18	53322159	y	y	splicing	DCC(NM_005215:exon14:c.2164+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2164+2T>C;ENST00000304775:exon13:c.1965+2T>C;ENST00000412726:exon14:c.1708+2T>C;ENST00000581580:exon11:c.1129+2T>C)	.	.	0.99991522016916	0.894
18	50848529	T	G	18	53322159	y	y	splicing	DCC(NM_005215:exon14:c.2164+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon14:c.2164+2T>G;ENST00000304775:exon13:c.1965+2T>G;ENST00000412726:exon14:c.1708+2T>G;ENST00000581580:exon11:c.1129+2T>G)	.	.	0.999988247793601	0.93
18	50848530	A	C	18	53322160	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.996585476425428	0.9
18	50848530	A	G	18	53322160	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.698106937133011	0.472
18	50848530	A	T	18	53322160	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.995519114663409	0.878
18	50848531	A	C	18	53322161	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.720425686314711	0.466
18	50848531	A	G	18	53322161	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.787604360214412	0.634
18	50848531	A	T	18	53322161	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.876503082040648	0.684
18	50848532	G	A	18	53322162	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999874190261805	0.918
18	50848532	G	C	18	53322162	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999979830318147	0.924
18	50848532	G	T	18	53322162	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999815274286021	0.85
18	50848533	A	C	18	53322163	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.3315567393666E-4	0.052
18	50848533	A	G	18	53322163	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.10822722679032E-4	0.03
18	50848533	A	T	18	53322163	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.37324113839187E-5	0.016
18	50848534	C	A	18	53322164	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.07545829958042E-4	0.01
18	50848534	C	G	18	53322164	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.87310935106264E-4	0.018
18	50848534	C	T	18	53322164	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.36380472008022E-4	0.016
18	50848535	T	A	18	53322165	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.16682635439002E-5	0.0
18	50848535	T	C	18	53322165	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.87873640366791E-5	0.0
18	50848535	T	G	18	53322165	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.21631586729891E-5	0.0
18	50866071	T	A	18	53339701	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.233079839589187	0.482
18	50866071	T	C	18	53339701	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00230967006809662	0.092
18	50866071	T	G	18	53339701	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.233079839589187	0.456
18	50866072	T	A	18	53339702	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.95566206806048	0.806
18	50866072	T	C	18	53339702	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0833353515274344	0.266
18	50866072	T	G	18	53339702	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.860324928604968	0.69
18	50866073	T	A	18	53339703	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999952476632952	0.958
18	50866073	T	C	18	53339703	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00459074859791095	0.096
18	50866073	T	G	18	53339703	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.952420643359164	0.82
18	50866074	G	A	18	53339704	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.83899283598105E-5	0.058
18	50866074	G	C	18	53339704	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.74992351211011E-5	0.158
18	50866074	G	T	18	53339704	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.13888194425673E-6	0.166
18	50866075	A	C	18	53339705	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.587563659322E-4	0.04
18	50866075	A	G	18	53339705	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.60227228786515E-4	0.14
18	50866075	A	T	18	53339705	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.41504264263099E-4	0.04
18	50866076	A	C	18	53339706	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00114920074047124	0.038
18	50866076	A	G	18	53339706	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997921706879899	0.878
18	50866076	A	T	18	53339706	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00108946669003066	0.038
18	50866077	T	A	18	53339707	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999754718523645	0.964
18	50866077	T	C	18	53339707	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.53788635030491E-4	0.046
18	50866077	T	G	18	53339707	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999757269642504	0.968
18	50866078	G	A	18	53339708	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.23627272846791E-5	0.022
18	50866078	G	C	18	53339708	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.03130952317386E-5	0.0
18	50866078	G	T	18	53339708	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.23756005721893E-4	0.026
18	50866079	C	A	18	53339709	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.42917080081899E-4	0.214
18	50866079	C	G	18	53339709	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.09820054197647E-4	0.05
18	50866079	C	T	18	53339709	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.90698014913856E-4	0.2
18	50866080	T	A	18	53339710	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.64138180727372	0.358
18	50866080	T	C	18	53339710	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.02966874219021E-5	0.062
18	50866080	T	G	18	53339710	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.395219844093106	0.45
18	50866081	A	C	18	53339711	y	y	splicing	DCC(NM_005215:exon15:c.2165-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2165-2A>C;ENST00000304775:exon14:c.1966-2A>C;ENST00000412726:exon15:c.1709-2A>C;ENST00000581580:exon12:c.1130-2A>C)	.	.	0.999979394981131	0.916
18	50866081	A	G	18	53339711	y	y	splicing	DCC(NM_005215:exon15:c.2165-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2165-2A>G;ENST00000304775:exon14:c.1966-2A>G;ENST00000412726:exon15:c.1709-2A>G;ENST00000581580:exon12:c.1130-2A>G)	.	.	0.999979394981131	0.916
18	50866081	A	T	18	53339711	y	y	splicing	DCC(NM_005215:exon15:c.2165-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2165-2A>T;ENST00000304775:exon14:c.1966-2A>T;ENST00000412726:exon15:c.1709-2A>T;ENST00000581580:exon12:c.1130-2A>T)	.	.	0.999979394981131	0.916
18	50866082	G	A	18	53339712	y	y	splicing	DCC(NM_005215:exon15:c.2165-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2165-1G>A;ENST00000304775:exon14:c.1966-1G>A;ENST00000412726:exon15:c.1709-1G>A;ENST00000581580:exon12:c.1130-1G>A)	.	.	0.999974634749143	0.906
18	50866082	G	C	18	53339712	y	y	splicing	DCC(NM_005215:exon15:c.2165-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2165-1G>C;ENST00000304775:exon14:c.1966-1G>C;ENST00000412726:exon15:c.1709-1G>C;ENST00000581580:exon12:c.1130-1G>C)	.	.	0.999974634749143	0.906
18	50866082	G	T	18	53339712	y	y	splicing	DCC(NM_005215:exon15:c.2165-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2165-1G>T;ENST00000304775:exon14:c.1966-1G>T;ENST00000412726:exon15:c.1709-1G>T;ENST00000581580:exon12:c.1130-1G>T)	.	.	0.999974634749143	0.906
18	50866083	A	C	18	53339713	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.A2165C:p.E722A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1130C:p.E377A;ENSG00000187323:ENST00000442544:exon15:c.A2165C:p.E722A;ENSG00000187323:ENST00000412726:exon15:c.A1709C:p.E570A;	0.202598280271476	0.38
18	50866083	A	G	18	53339713	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.A2165G:p.E722G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1130G:p.E377G;ENSG00000187323:ENST00000442544:exon15:c.A2165G:p.E722G;ENSG00000187323:ENST00000412726:exon15:c.A1709G:p.E570G;	0.0179974847830105	0.268
18	50866083	A	T	18	53339713	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.A2165T:p.E722V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1130T:p.E377V;ENSG00000187323:ENST00000442544:exon15:c.A2165T:p.E722V;ENSG00000187323:ENST00000412726:exon15:c.A1709T:p.E570V;	0.228869503981978	0.36
18	50866084	A	C	18	53339714	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.A2166C:p.E722D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1131C:p.E377D;ENSG00000187323:ENST00000442544:exon15:c.A2166C:p.E722D;ENSG00000187323:ENST00000412726:exon15:c.A1710C:p.E570D;	3.34802042183471E-4	0.06
18	50866084	A	G	18	53339714	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon15:c.A2166G:p.E722E;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1131G:p.E377E;ENSG00000187323:ENST00000442544:exon15:c.A2166G:p.E722E;ENSG00000187323:ENST00000412726:exon15:c.A1710G:p.E570E;	8.95297377300992E-5	0.036
18	50866084	A	T	18	53339714	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.A2166T:p.E722D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1131T:p.E377D;ENSG00000187323:ENST00000442544:exon15:c.A2166T:p.E722D;ENSG00000187323:ENST00000412726:exon15:c.A1710T:p.E570D;	3.24805024873573E-5	0.032
18	50866275	T	A	18	53339905	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon15:c.T2357A:p.L786X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon12:c.T1322A:p.L441X;ENSG00000187323:ENST00000442544:exon15:c.T2357A:p.L786X;ENSG00000187323:ENST00000412726:exon15:c.T1901A:p.L634X;	0.572159490834439	0.776
18	50866275	T	C	18	53339905	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.T2357C:p.L786S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.T1322C:p.L441S;ENSG00000187323:ENST00000442544:exon15:c.T2357C:p.L786S;ENSG00000187323:ENST00000412726:exon15:c.T1901C:p.L634S;	7.94679953330575E-4	0.008
18	50866275	T	G	18	53339905	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon15:c.T2357G:p.L786X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon12:c.T1322G:p.L441X;ENSG00000187323:ENST00000442544:exon15:c.T2357G:p.L786X;ENSG00000187323:ENST00000412726:exon15:c.T1901G:p.L634X;	0.691572743695424	0.812
18	50866276	A	C	18	53339906	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.A2358C:p.L786F;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1323C:p.L441F;ENSG00000187323:ENST00000442544:exon15:c.A2358C:p.L786F;ENSG00000187323:ENST00000412726:exon15:c.A1902C:p.L634F;	0.0402307420528276	0.53
18	50866276	A	G	18	53339906	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon15:c.A2358G:p.L786L;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1323G:p.L441L;ENSG00000187323:ENST00000442544:exon15:c.A2358G:p.L786L;ENSG00000187323:ENST00000412726:exon15:c.A1902G:p.L634L;	0.0575539714077102	0.416
18	50866276	A	T	18	53339906	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.A2358T:p.L786F;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.A1323T:p.L441F;ENSG00000187323:ENST00000442544:exon15:c.A2358T:p.L786F;ENSG00000187323:ENST00000412726:exon15:c.A1902T:p.L634F;	0.0361740583264497	0.542
18	50866277	G	A	18	53339907	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.G2359A:p.E787K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.G1324A:p.E442K;ENSG00000187323:ENST00000442544:exon15:c.G2359A:p.E787K;ENSG00000187323:ENST00000412726:exon15:c.G1903A:p.E635K;	0.999816312536873	0.976
18	50866277	G	C	18	53339907	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon15:c.G2359C:p.E787Q;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon12:c.G1324C:p.E442Q;ENSG00000187323:ENST00000442544:exon15:c.G2359C:p.E787Q;ENSG00000187323:ENST00000412726:exon15:c.G1903C:p.E635Q;	0.998909206951562	0.864
18	50866277	G	T	18	53339907	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon15:c.G2359T:p.E787X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon12:c.G1324T:p.E442X;ENSG00000187323:ENST00000442544:exon15:c.G2359T:p.E787X;ENSG00000187323:ENST00000412726:exon15:c.G1903T:p.E635X;	0.999915336228114	0.956
18	50866278	G	A	18	53339908	y	y	splicing	DCC(NM_005215:exon15:c.2359+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2359+1G>A;ENST00000304775:exon14:c.2160+1G>A;ENST00000412726:exon15:c.1903+1G>A;ENST00000581580:exon12:c.1324+1G>A)	.	.	0.999985532734767	0.938
18	50866278	G	C	18	53339908	y	y	splicing	DCC(NM_005215:exon15:c.2359+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2359+1G>C;ENST00000304775:exon14:c.2160+1G>C;ENST00000412726:exon15:c.1903+1G>C;ENST00000581580:exon12:c.1324+1G>C)	.	.	0.999985532734767	0.938
18	50866278	G	T	18	53339908	y	y	splicing	DCC(NM_005215:exon15:c.2359+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2359+1G>T;ENST00000304775:exon14:c.2160+1G>T;ENST00000412726:exon15:c.1903+1G>T;ENST00000581580:exon12:c.1324+1G>T)	.	.	0.999985532734767	0.938
18	50866279	T	A	18	53339909	y	y	splicing	DCC(NM_005215:exon15:c.2359+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2359+2T>A;ENST00000304775:exon14:c.2160+2T>A;ENST00000412726:exon15:c.1903+2T>A;ENST00000581580:exon12:c.1324+2T>A)	.	.	0.999988247793601	0.928
18	50866279	T	C	18	53339909	y	y	splicing	DCC(NM_005215:exon15:c.2359+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2359+2T>C;ENST00000304775:exon14:c.2160+2T>C;ENST00000412726:exon15:c.1903+2T>C;ENST00000581580:exon12:c.1324+2T>C)	.	.	0.999929727175276	0.858
18	50866279	T	G	18	53339909	y	y	splicing	DCC(NM_005215:exon15:c.2359+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon15:c.2359+2T>G;ENST00000304775:exon14:c.2160+2T>G;ENST00000412726:exon15:c.1903+2T>G;ENST00000581580:exon12:c.1324+2T>G)	.	.	0.999988247793601	0.928
18	50866280	G	A	18	53339910	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.06991460281584E-4	0.002
18	50866280	G	C	18	53339910	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0861876477136694	0.396
18	50866280	G	T	18	53339910	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.221341596578394	0.46
18	50866281	A	C	18	53339911	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.541426673464208	0.518
18	50866281	A	G	18	53339911	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.982665356276511	0.678
18	50866281	A	T	18	53339911	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.984210979383208	0.678
18	50866282	G	A	18	53339912	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997011564398186	0.918
18	50866282	G	C	18	53339912	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.992792300515314	0.898
18	50866282	G	T	18	53339912	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997237780615995	0.89
18	50866283	T	A	18	53339913	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.582966907756931	0.488
18	50866283	T	C	18	53339913	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.262407318683312	0.404
18	50866283	T	G	18	53339913	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0441917048937995	0.368
18	50866284	A	C	18	53339914	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.14419558760117E-5	0.0
18	50866284	A	G	18	53339914	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.98786759930311E-5	0.0
18	50866284	A	T	18	53339914	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.73162692821292E-5	0.0
18	50866285	T	A	18	53339915	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.27923221727052E-5	0.01
18	50866285	T	C	18	53339915	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.59246609887922E-5	0.01
18	50866285	T	G	18	53339915	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.03907902507769E-5	0.01
18	50912401	T	A	18	53386031	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.8654341457001E-4	0.066
18	50912401	T	C	18	53386031	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.51808749505563E-4	0.008
18	50912401	T	G	18	53386031	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.77749879793496E-4	0.046
18	50912402	T	A	18	53386032	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00687823578126604	0.186
18	50912402	T	C	18	53386032	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00395128929116909	0.086
18	50912402	T	G	18	53386032	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00341642941820536	0.156
18	50912403	T	A	18	53386033	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.818436301238361	0.692
18	50912403	T	C	18	53386033	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.482592237010531	0.62
18	50912403	T	G	18	53386033	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.780202382868213	0.676
18	50912404	T	A	18	53386034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0249690546131316	0.244
18	50912404	T	C	18	53386034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00185169269292346	0.144
18	50912404	T	G	18	53386034	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0103818563261898	0.208
18	50912405	T	A	18	53386035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.16081971777937E-4	0.056
18	50912405	T	C	18	53386035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.06307301693074E-5	0.0
18	50912405	T	G	18	53386035	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.16081971777937E-4	0.046
18	50912406	T	A	18	53386036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00153207245366143	0.11
18	50912406	T	C	18	53386036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.77541626819749E-5	0.0
18	50912406	T	G	18	53386036	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.97285110932195E-4	0.052
18	50912407	C	A	18	53386037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0130166977072007	0.152
18	50912407	C	G	18	53386037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0101130464539963	0.164
18	50912407	C	T	18	53386037	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0011069440878306	0.006
18	50912408	T	A	18	53386038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00159467262771895	0.168
18	50912408	T	C	18	53386038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.34734331864732E-4	0.016
18	50912408	T	G	18	53386038	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00668328128764849	0.206
18	50912409	C	A	18	53386039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00295022903173843	0.084
18	50912409	C	G	18	53386039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00301935379696104	0.086
18	50912409	C	T	18	53386039	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00295022903173843	0.078
18	50912410	C	A	18	53386040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.662123467817317	0.412
18	50912410	C	G	18	53386040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999740350229156	0.832
18	50912410	C	T	18	53386040	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00119547056301742	0.072
18	50912411	A	C	18	53386041	y	y	splicing	DCC(NM_005215:exon16:c.2360-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2360-2A>C;ENST00000304775:exon15:c.2161-2A>C;ENST00000412726:exon16:c.1904-2A>C;ENST00000581580:exon13:c.1325-2A>C)	.	.	0.999988247793601	0.932
18	50912411	A	G	18	53386041	y	y	splicing	DCC(NM_005215:exon16:c.2360-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2360-2A>G;ENST00000304775:exon15:c.2161-2A>G;ENST00000412726:exon16:c.1904-2A>G;ENST00000581580:exon13:c.1325-2A>G)	.	.	0.999988247793601	0.932
18	50912411	A	T	18	53386041	y	y	splicing	DCC(NM_005215:exon16:c.2360-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2360-2A>T;ENST00000304775:exon15:c.2161-2A>T;ENST00000412726:exon16:c.1904-2A>T;ENST00000581580:exon13:c.1325-2A>T)	.	.	0.999988247793601	0.932
18	50912412	G	A	18	53386042	y	y	splicing	DCC(NM_005215:exon16:c.2360-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2360-1G>A;ENST00000304775:exon15:c.2161-1G>A;ENST00000412726:exon16:c.1904-1G>A;ENST00000581580:exon13:c.1325-1G>A)	.	.	0.999990361384395	0.938
18	50912412	G	C	18	53386042	y	y	splicing	DCC(NM_005215:exon16:c.2360-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2360-1G>C;ENST00000304775:exon15:c.2161-1G>C;ENST00000412726:exon16:c.1904-1G>C;ENST00000581580:exon13:c.1325-1G>C)	.	.	0.999990361384395	0.938
18	50912412	G	T	18	53386042	y	y	splicing	DCC(NM_005215:exon16:c.2360-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2360-1G>T;ENST00000304775:exon15:c.2161-1G>T;ENST00000412726:exon16:c.1904-1G>T;ENST00000581580:exon13:c.1325-1G>T)	.	.	0.999990361384395	0.938
18	50912413	A	C	18	53386043	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.A2360C:p.E787A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.A1325C:p.E442A;ENSG00000187323:ENST00000442544:exon16:c.A2360C:p.E787A;ENSG00000187323:ENST00000412726:exon16:c.A1904C:p.E635A;	0.548169946896032	0.616
18	50912413	A	G	18	53386043	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.A2360G:p.E787G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.A1325G:p.E442G;ENSG00000187323:ENST00000442544:exon16:c.A2360G:p.E787G;ENSG00000187323:ENST00000412726:exon16:c.A1904G:p.E635G;	0.229675573361945	0.594
18	50912413	A	T	18	53386043	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.A2360T:p.E787V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.A1325T:p.E442V;ENSG00000187323:ENST00000442544:exon16:c.A2360T:p.E787V;ENSG00000187323:ENST00000412726:exon16:c.A1904T:p.E635V;	0.608968570073089	0.578
18	50912414	G	A	18	53386044	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon16:c.G2361A:p.E787E;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.G1326A:p.E442E;ENSG00000187323:ENST00000442544:exon16:c.G2361A:p.E787E;ENSG00000187323:ENST00000412726:exon16:c.G1905A:p.E635E;	0.693626919387814	0.566
18	50912414	G	C	18	53386044	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.G2361C:p.E787D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.G1326C:p.E442D;ENSG00000187323:ENST00000442544:exon16:c.G2361C:p.E787D;ENSG00000187323:ENST00000412726:exon16:c.G1905C:p.E635D;	0.87704890874462	0.718
18	50912414	G	T	18	53386044	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.G2361T:p.E787D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.G1326T:p.E442D;ENSG00000187323:ENST00000442544:exon16:c.G2361T:p.E787D;ENSG00000187323:ENST00000412726:exon16:c.G1905T:p.E635D;	0.810348215234426	0.736
18	50912506	C	A	18	53386136	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.C2453A:p.T818N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.C1418A:p.T473N;ENSG00000187323:ENST00000442544:exon16:c.C2453A:p.T818N;ENSG00000187323:ENST00000412726:exon16:c.C1997A:p.T666N;	0.959667455651049	0.698
18	50912506	C	G	18	53386136	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.C2453G:p.T818S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.C1418G:p.T473S;ENSG00000187323:ENST00000442544:exon16:c.C2453G:p.T818S;ENSG00000187323:ENST00000412726:exon16:c.C1997G:p.T666S;	0.939386622530537	0.626
18	50912506	C	T	18	53386136	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.C2453T:p.T818I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.C1418T:p.T473I;ENSG00000187323:ENST00000442544:exon16:c.C2453T:p.T818I;ENSG00000187323:ENST00000412726:exon16:c.C1997T:p.T666I;	0.995294510359007	0.506
18	50912507	C	A	18	53386137	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon16:c.C2454A:p.T818T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.C1419A:p.T473T;ENSG00000187323:ENST00000442544:exon16:c.C2454A:p.T818T;ENSG00000187323:ENST00000412726:exon16:c.C1998A:p.T666T;	1.04085658574811E-4	0.064
18	50912507	C	G	18	53386137	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon16:c.C2454G:p.T818T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.C1419G:p.T473T;ENSG00000187323:ENST00000442544:exon16:c.C2454G:p.T818T;ENSG00000187323:ENST00000412726:exon16:c.C1998G:p.T666T;	7.45396688974133E-5	0.004
18	50912507	C	T	18	53386137	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon16:c.C2454T:p.T818T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.C1419T:p.T473T;ENSG00000187323:ENST00000442544:exon16:c.C2454T:p.T818T;ENSG00000187323:ENST00000412726:exon16:c.C1998T:p.T666T;	0.0100504814827968	0.124
18	50912508	G	A	18	53386138	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.G2455A:p.D819N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.G1420A:p.D474N;ENSG00000187323:ENST00000442544:exon16:c.G2455A:p.D819N;ENSG00000187323:ENST00000412726:exon16:c.G1999A:p.D667N;	0.99993036047256	0.938
18	50912508	G	C	18	53386138	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.G2455C:p.D819H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.G1420C:p.D474H;ENSG00000187323:ENST00000442544:exon16:c.G2455C:p.D819H;ENSG00000187323:ENST00000412726:exon16:c.G1999C:p.D667H;	0.99993249969731	0.964
18	50912508	G	T	18	53386138	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon16:c.G2455T:p.D819Y;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon13:c.G1420T:p.D474Y;ENSG00000187323:ENST00000442544:exon16:c.G2455T:p.D819Y;ENSG00000187323:ENST00000412726:exon16:c.G1999T:p.D667Y;	0.999840945604147	0.956
18	50912509	G	A	18	53386139	y	y	splicing	DCC(NM_005215:exon16:c.2455+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2455+1G>A;ENST00000304775:exon15:c.2256+1G>A;ENST00000412726:exon16:c.1999+1G>A;ENST00000581580:exon13:c.1420+1G>A)	.	.	0.999990361384395	0.938
18	50912509	G	C	18	53386139	y	y	splicing	DCC(NM_005215:exon16:c.2455+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2455+1G>C;ENST00000304775:exon15:c.2256+1G>C;ENST00000412726:exon16:c.1999+1G>C;ENST00000581580:exon13:c.1420+1G>C)	.	.	0.999990361384395	0.938
18	50912509	G	T	18	53386139	y	y	splicing	DCC(NM_005215:exon16:c.2455+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2455+1G>T;ENST00000304775:exon15:c.2256+1G>T;ENST00000412726:exon16:c.1999+1G>T;ENST00000581580:exon13:c.1420+1G>T)	.	.	0.999990361384395	0.938
18	50912510	T	A	18	53386140	y	y	splicing	DCC(NM_005215:exon16:c.2455+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2455+2T>A;ENST00000304775:exon15:c.2256+2T>A;ENST00000412726:exon16:c.1999+2T>A;ENST00000581580:exon13:c.1420+2T>A)	.	.	0.999988247793601	0.932
18	50912510	T	C	18	53386140	y	y	splicing	DCC(NM_005215:exon16:c.2455+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2455+2T>C;ENST00000304775:exon15:c.2256+2T>C;ENST00000412726:exon16:c.1999+2T>C;ENST00000581580:exon13:c.1420+2T>C)	.	.	0.996388929962285	0.702
18	50912510	T	G	18	53386140	y	y	splicing	DCC(NM_005215:exon16:c.2455+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon16:c.2455+2T>G;ENST00000304775:exon15:c.2256+2T>G;ENST00000412726:exon16:c.1999+2T>G;ENST00000581580:exon13:c.1420+2T>G)	.	.	0.999988247793601	0.932
18	50912511	A	C	18	53386141	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.86952213942416	0.616
18	50912511	A	G	18	53386141	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.13683712371168E-4	0.072
18	50912511	A	T	18	53386141	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.938813418592376	0.568
18	50912512	A	C	18	53386142	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.183031572000852	0.346
18	50912512	A	G	18	53386142	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.650655642930767	0.41
18	50912512	A	T	18	53386142	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0667791674640873	0.364
18	50912513	G	A	18	53386143	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999079045623374	0.868
18	50912513	G	C	18	53386143	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999683436134409	0.81
18	50912513	G	T	18	53386143	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99988882790579	0.9
18	50912514	T	A	18	53386144	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.56454525550929E-4	0.036
18	50912514	T	C	18	53386144	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00145557054993015	0.066
18	50912514	T	G	18	53386144	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.23470786759796E-5	0.016
18	50912515	G	A	18	53386145	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.66721712464991E-6	0.0
18	50912515	G	C	18	53386145	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.06341561599038E-6	0.0
18	50912515	G	T	18	53386145	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.10275622159801E-5	0.0
18	50912516	A	C	18	53386146	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.64905445396362E-5	0.0
18	50912516	A	G	18	53386146	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.64905445396362E-5	0.0
18	50912516	A	T	18	53386146	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.54583771157E-5	0.0
18	50918013	T	A	18	53391643	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.940898801984615	0.814
18	50918013	T	C	18	53391643	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00156088121913065	0.08
18	50918013	T	G	18	53391643	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.752583008377499	0.758
18	50918014	T	A	18	53391644	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997397398519974	0.902
18	50918014	T	C	18	53391644	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.152873063947596	0.336
18	50918014	T	G	18	53391644	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.990472867975459	0.85
18	50918015	T	A	18	53391645	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.673877713996426	0.676
18	50918015	T	C	18	53391645	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.41078326453373E-4	0.08
18	50918015	T	G	18	53391645	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.864747860909295	0.692
18	50918016	T	A	18	53391646	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.446532973485377	0.54
18	50918016	T	C	18	53391646	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.7860562077181E-5	0.134
18	50918016	T	G	18	53391646	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.741403213829967	0.636
18	50918017	A	C	18	53391647	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.27219349862041E-5	0.0
18	50918017	A	G	18	53391647	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.08882707724309E-5	0.0
18	50918017	A	T	18	53391647	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.27219349862041E-5	0.0
18	50918018	A	C	18	53391648	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00176507666783631	0.044
18	50918018	A	G	18	53391648	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997919144660603	0.882
18	50918018	A	T	18	53391648	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00176507666783631	0.06
18	50918019	A	C	18	53391649	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00179957923924647	0.056
18	50918019	A	G	18	53391649	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999202975232036	0.832
18	50918019	A	T	18	53391649	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00179957923924647	0.062
18	50918020	C	A	18	53391650	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.181930814845709	0.282
18	50918020	C	G	18	53391650	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.9999094616998	0.936
18	50918020	C	T	18	53391650	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00280219601568402	0.022
18	50918021	C	A	18	53391651	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0020224714655146	0.066
18	50918021	C	G	18	53391651	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00952150460772635	0.12
18	50918021	C	T	18	53391651	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00243405455335404	0.082
18	50918022	C	A	18	53391652	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999945381514675	0.968
18	50918022	C	G	18	53391652	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999940957943221	0.978
18	50918022	C	T	18	53391652	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.919766759707899	0.366
18	50918023	A	C	18	53391653	y	y	splicing	DCC(NM_005215:exon17:c.2456-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2456-2A>C)	.	.	0.999982322733069	0.92
18	50918023	A	G	18	53391653	y	y	splicing	DCC(NM_005215:exon17:c.2456-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2456-2A>G)	.	.	0.999982322733069	0.92
18	50918023	A	T	18	53391653	y	y	splicing	DCC(NM_005215:exon17:c.2456-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2456-2A>T)	.	.	0.999982322733069	0.92
18	50918024	G	A	18	53391654	y	y	splicing	DCC(NM_005215:exon17:c.2456-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2456-1G>A)	.	.	0.999976638640456	0.924
18	50918024	G	C	18	53391654	y	y	splicing	DCC(NM_005215:exon17:c.2456-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2456-1G>C)	.	.	0.999976638640456	0.924
18	50918024	G	T	18	53391654	y	y	splicing	DCC(NM_005215:exon17:c.2456-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2456-1G>T)	.	.	0.999976638640456	0.924
18	50918025	A	C	18	53391655	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.A2456C:p.D819A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon17:c.A2456C:p.D819A;	0.359085314664458	0.486
18	50918025	A	G	18	53391655	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.A2456G:p.D819G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon17:c.A2456G:p.D819G;	0.323360086028385	0.402
18	50918025	A	T	18	53391655	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.A2456T:p.D819V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon17:c.A2456T:p.D819V;	0.355361765936364	0.404
18	50918026	T	A	18	53391656	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.T2457A:p.D819E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon17:c.T2457A:p.D819E;	8.89835393342422E-5	0.21
18	50918026	T	C	18	53391656	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon17:c.T2457C:p.D819D;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon17:c.T2457C:p.D819D;	5.61484443222449E-4	0.106
18	50918026	T	G	18	53391656	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.T2457G:p.D819E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon17:c.T2457G:p.D819E;	1.17861777699143E-4	0.2
18	50918255	A	C	18	53391885	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.A2686C:p.K896Q;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon14:c.A1591C:p.K531Q;ENSG00000187323:ENST00000442544:exon17:c.A2686C:p.K896Q;ENSG00000187323:ENST00000412726:exon17:c.A2170C:p.K724Q;	0.0221448228309157	0.19
18	50918255	A	G	18	53391885	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.A2686G:p.K896E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon14:c.A1591G:p.K531E;ENSG00000187323:ENST00000442544:exon17:c.A2686G:p.K896E;ENSG00000187323:ENST00000412726:exon17:c.A2170G:p.K724E;	0.102786536599072	0.392
18	50918255	A	T	18	53391885	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon17:c.A2686T:p.K896X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon14:c.A1591T:p.K531X;ENSG00000187323:ENST00000442544:exon17:c.A2686T:p.K896X;ENSG00000187323:ENST00000412726:exon17:c.A2170T:p.K724X;	0.990564434619713	0.826
18	50918256	A	C	18	53391886	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.A2687C:p.K896T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon14:c.A1592C:p.K531T;ENSG00000187323:ENST00000442544:exon17:c.A2687C:p.K896T;ENSG00000187323:ENST00000412726:exon17:c.A2171C:p.K724T;	0.998784275686218	0.966
18	50918256	A	G	18	53391886	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.A2687G:p.K896R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon14:c.A1592G:p.K531R;ENSG00000187323:ENST00000442544:exon17:c.A2687G:p.K896R;ENSG00000187323:ENST00000412726:exon17:c.A2171G:p.K724R;	0.999931874698126	0.992
18	50918256	A	T	18	53391886	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.A2687T:p.K896M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon14:c.A1592T:p.K531M;ENSG00000187323:ENST00000442544:exon17:c.A2687T:p.K896M;ENSG00000187323:ENST00000412726:exon17:c.A2171T:p.K724M;	0.999838098745574	0.976
18	50918257	G	A	18	53391887	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon17:c.G2688A:p.K896K;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon14:c.G1593A:p.K531K;ENSG00000187323:ENST00000442544:exon17:c.G2688A:p.K896K;ENSG00000187323:ENST00000412726:exon17:c.G2172A:p.K724K;	0.999992681905374	1.0
18	50918257	G	C	18	53391887	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.G2688C:p.K896N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon14:c.G1593C:p.K531N;ENSG00000187323:ENST00000442544:exon17:c.G2688C:p.K896N;ENSG00000187323:ENST00000412726:exon17:c.G2172C:p.K724N;	0.999989993865026	1.0
18	50918257	G	T	18	53391887	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon17:c.G2688T:p.K896N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon14:c.G1593T:p.K531N;ENSG00000187323:ENST00000442544:exon17:c.G2688T:p.K896N;ENSG00000187323:ENST00000412726:exon17:c.G2172T:p.K724N;	0.999970289053792	1.0
18	50918258	G	A	18	53391888	y	y	splicing	DCC(NM_005215:exon17:c.2688+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2688+1G>A;ENST00000412726:exon17:c.2172+1G>A;ENST00000581580:exon14:c.1593+1G>A;ENST00000579941:exon1:c.104+1G>A)	.	.	0.999986741007567	0.926
18	50918258	G	C	18	53391888	y	y	splicing	DCC(NM_005215:exon17:c.2688+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2688+1G>C;ENST00000412726:exon17:c.2172+1G>C;ENST00000581580:exon14:c.1593+1G>C;ENST00000579941:exon1:c.104+1G>C)	.	.	0.999986741007567	0.924
18	50918258	G	T	18	53391888	y	y	splicing	DCC(NM_005215:exon17:c.2688+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2688+1G>T;ENST00000412726:exon17:c.2172+1G>T;ENST00000581580:exon14:c.1593+1G>T;ENST00000579941:exon1:c.104+1G>T)	.	.	0.999986741007567	0.926
18	50918259	T	A	18	53391889	y	y	splicing	DCC(NM_005215:exon17:c.2688+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2688+2T>A;ENST00000412726:exon17:c.2172+2T>A;ENST00000581580:exon14:c.1593+2T>A;ENST00000579941:exon1:c.104+2T>A)	.	.	0.999992689121502	0.936
18	50918259	T	C	18	53391889	y	y	splicing	DCC(NM_005215:exon17:c.2688+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2688+2T>C;ENST00000412726:exon17:c.2172+2T>C;ENST00000581580:exon14:c.1593+2T>C;ENST00000579941:exon1:c.104+2T>C)	.	.	0.999966829575985	0.856
18	50918259	T	G	18	53391889	y	y	splicing	DCC(NM_005215:exon17:c.2688+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon17:c.2688+2T>G;ENST00000412726:exon17:c.2172+2T>G;ENST00000581580:exon14:c.1593+2T>G;ENST00000579941:exon1:c.104+2T>G)	.	.	0.999992689121502	0.936
18	50918260	G	A	18	53391890	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.45156910045412E-4	0.074
18	50918260	G	C	18	53391890	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997399072507819	0.782
18	50918260	G	T	18	53391890	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.91613416853756	0.772
18	50918261	A	C	18	53391891	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.995899917217231	0.868
18	50918261	A	G	18	53391891	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999730700719286	0.968
18	50918261	A	T	18	53391891	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999723782725108	0.948
18	50918262	A	C	18	53391892	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.59584406010905E-4	0.056
18	50918262	A	G	18	53391892	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00136987907715218	0.088
18	50918262	A	T	18	53391892	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00172613699363661	0.174
18	50918263	G	A	18	53391893	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00474257842764761	0.08
18	50918263	G	C	18	53391893	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00134113080304038	0.052
18	50918263	G	T	18	53391893	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.39506631748382E-4	0.022
18	50918264	T	A	18	53391894	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.30185743797297E-4	0.088
18	50918264	T	C	18	53391894	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.06476950206478E-4	0.044
18	50918264	T	G	18	53391894	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.06476950206478E-4	0.006
18	50918265	T	A	18	53391895	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0063449129324374	0.032
18	50918265	T	C	18	53391895	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00430328788880185	0.018
18	50918265	T	G	18	53391895	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00459790502309371	0.02
18	50923666	C	A	18	53397296	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0311286057178194	0.058
18	50923666	C	G	18	53397296	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0270918823343935	0.12
18	50923666	C	T	18	53397296	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.27982488711203E-4	0.046
18	50923667	T	A	18	53397297	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.885358895191675	0.676
18	50923667	T	C	18	53397297	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00212914454299584	0.236
18	50923667	T	G	18	53397297	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.315526166340292	0.58
18	50923668	A	C	18	53397298	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.37146806347441E-5	0.032
18	50923668	A	G	18	53397298	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.7031151739118E-5	0.012
18	50923668	A	T	18	53397298	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.29357829589899E-5	0.008
18	50923669	C	A	18	53397299	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00109709931945877	0.062
18	50923669	C	G	18	53397299	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999921150730339	0.976
18	50923669	C	T	18	53397299	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.77516861586775E-4	0.018
18	50923670	T	A	18	53397300	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.157254293667197	0.482
18	50923670	T	C	18	53397300	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00200776989337856	0.072
18	50923670	T	G	18	53397300	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0105464412176677	0.324
18	50923671	T	A	18	53397301	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999947105388156	0.954
18	50923671	T	C	18	53397301	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.84490138893574E-4	0.032
18	50923671	T	G	18	53397301	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00445633598807507	0.218
18	50923672	G	A	18	53397302	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00213937132165905	0.058
18	50923672	G	C	18	53397302	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.18766892797098E-4	0.134
18	50923672	G	T	18	53397302	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.52339344933898E-4	0.05
18	50923673	T	A	18	53397303	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.974435886542275	0.804
18	50923673	T	C	18	53397303	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.152898611010943	0.288
18	50923673	T	G	18	53397303	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.965545350912233	0.742
18	50923674	A	C	18	53397304	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.58396304506747E-5	0.028
18	50923674	A	G	18	53397304	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.82971283109195E-4	0.034
18	50923674	A	T	18	53397304	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.13892999981616E-4	0.06
18	50923675	T	A	18	53397305	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.218591959183349	0.452
18	50923675	T	C	18	53397305	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.14383437252441E-4	0.154
18	50923675	T	G	18	53397305	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.980844559050843	0.664
18	50923676	A	C	18	53397306	y	y	splicing	DCC(NM_005215:exon18:c.2689-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2689-2A>C;ENST00000304775:exon16:c.2257-2A>C;ENST00000412726:exon18:c.2173-2A>C;ENST00000581580:exon15:c.1594-2A>C;ENST00000579941:exon2:c.105-2A>C)	.	.	0.999986741007567	0.946
18	50923676	A	G	18	53397306	y	y	splicing	DCC(NM_005215:exon18:c.2689-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2689-2A>G;ENST00000304775:exon16:c.2257-2A>G;ENST00000412726:exon18:c.2173-2A>G;ENST00000581580:exon15:c.1594-2A>G;ENST00000579941:exon2:c.105-2A>G)	.	.	0.999986741007567	0.946
18	50923676	A	T	18	53397306	y	y	splicing	DCC(NM_005215:exon18:c.2689-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2689-2A>T;ENST00000304775:exon16:c.2257-2A>T;ENST00000412726:exon18:c.2173-2A>T;ENST00000581580:exon15:c.1594-2A>T;ENST00000579941:exon2:c.105-2A>T)	.	.	0.999986741007567	0.946
18	50923677	G	A	18	53397307	y	y	splicing	DCC(NM_005215:exon18:c.2689-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2689-1G>A;ENST00000304775:exon16:c.2257-1G>A;ENST00000412726:exon18:c.2173-1G>A;ENST00000581580:exon15:c.1594-1G>A;ENST00000579941:exon2:c.105-1G>A)	.	.	0.999989125585301	0.944
18	50923677	G	C	18	53397307	y	y	splicing	DCC(NM_005215:exon18:c.2689-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2689-1G>C;ENST00000304775:exon16:c.2257-1G>C;ENST00000412726:exon18:c.2173-1G>C;ENST00000581580:exon15:c.1594-1G>C;ENST00000579941:exon2:c.105-1G>C)	.	.	0.999989125585301	0.944
18	50923677	G	T	18	53397307	y	y	splicing	DCC(NM_005215:exon18:c.2689-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2689-1G>T;ENST00000304775:exon16:c.2257-1G>T;ENST00000412726:exon18:c.2173-1G>T;ENST00000581580:exon15:c.1594-1G>T;ENST00000579941:exon2:c.105-1G>T)	.	.	0.999989125585301	0.944
18	50923678	T	A	18	53397308	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.T2689A:p.S897T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.T1594A:p.S532T;ENSG00000187323:ENST00000442544:exon18:c.T2689A:p.S897T;ENSG00000187323:ENST00000412726:exon18:c.T2173A:p.S725T;	8.20623269101646E-4	0.018
18	50923678	T	C	18	53397308	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.T2689C:p.S897P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.T1594C:p.S532P;ENSG00000187323:ENST00000442544:exon18:c.T2689C:p.S897P;ENSG00000187323:ENST00000412726:exon18:c.T2173C:p.S725P;	0.00640242629120354	0.078
18	50923678	T	G	18	53397308	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.T2689G:p.S897A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.T1594G:p.S532A;ENSG00000187323:ENST00000442544:exon18:c.T2689G:p.S897A;ENSG00000187323:ENST00000412726:exon18:c.T2173G:p.S725A;	0.00181465835096235	0.07
18	50923679	C	A	18	53397309	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon18:c.C2690A:p.S897X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon15:c.C1595A:p.S532X;ENSG00000187323:ENST00000442544:exon18:c.C2690A:p.S897X;ENSG00000187323:ENST00000412726:exon18:c.C2174A:p.S725X;	0.99453951476352	0.832
18	50923679	C	G	18	53397309	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon18:c.C2690G:p.S897X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon15:c.C1595G:p.S532X;ENSG00000187323:ENST00000442544:exon18:c.C2690G:p.S897X;ENSG00000187323:ENST00000412726:exon18:c.C2174G:p.S725X;	0.989498661577575	0.872
18	50923679	C	T	18	53397309	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.C2690T:p.S897L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.C1595T:p.S532L;ENSG00000187323:ENST00000442544:exon18:c.C2690T:p.S897L;ENSG00000187323:ENST00000412726:exon18:c.C2174T:p.S725L;	0.0293649682229748	0.204
18	50923814	C	A	18	53397444	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.C2825A:p.A942E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.C1730A:p.A577E;ENSG00000187323:ENST00000442544:exon18:c.C2825A:p.A942E;ENSG00000187323:ENST00000412726:exon18:c.C2309A:p.A770E;	0.968204621246878	0.738
18	50923814	C	G	18	53397444	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.C2825G:p.A942G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.C1730G:p.A577G;ENSG00000187323:ENST00000442544:exon18:c.C2825G:p.A942G;ENSG00000187323:ENST00000412726:exon18:c.C2309G:p.A770G;	0.939386622530537	0.62
18	50923814	C	T	18	53397444	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.C2825T:p.A942V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.C1730T:p.A577V;ENSG00000187323:ENST00000442544:exon18:c.C2825T:p.A942V;ENSG00000187323:ENST00000412726:exon18:c.C2309T:p.A770V;	0.99852865766274	0.818
18	50923815	A	C	18	53397445	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon18:c.A2826C:p.A942A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.A1731C:p.A577A;ENSG00000187323:ENST00000442544:exon18:c.A2826C:p.A942A;ENSG00000187323:ENST00000412726:exon18:c.A2310C:p.A770A;	0.23347670874884	0.58
18	50923815	A	G	18	53397445	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon18:c.A2826G:p.A942A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.A1731G:p.A577A;ENSG00000187323:ENST00000442544:exon18:c.A2826G:p.A942A;ENSG00000187323:ENST00000412726:exon18:c.A2310G:p.A770A;	0.329645949452205	0.51
18	50923815	A	T	18	53397445	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon18:c.A2826T:p.A942A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.A1731T:p.A577A;ENSG00000187323:ENST00000442544:exon18:c.A2826T:p.A942A;ENSG00000187323:ENST00000412726:exon18:c.A2310T:p.A770A;	0.951271182727528	0.708
18	50923816	G	A	18	53397446	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.G2827A:p.A943T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.G1732A:p.A578T;ENSG00000187323:ENST00000442544:exon18:c.G2827A:p.A943T;ENSG00000187323:ENST00000412726:exon18:c.G2311A:p.A771T;	0.999958737484101	0.992
18	50923816	G	C	18	53397446	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.G2827C:p.A943P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.G1732C:p.A578P;ENSG00000187323:ENST00000442544:exon18:c.G2827C:p.A943P;ENSG00000187323:ENST00000412726:exon18:c.G2311C:p.A771P;	0.999981470524331	0.986
18	50923816	G	T	18	53397446	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon18:c.G2827T:p.A943S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon15:c.G1732T:p.A578S;ENSG00000187323:ENST00000442544:exon18:c.G2827T:p.A943S;ENSG00000187323:ENST00000412726:exon18:c.G2311T:p.A771S;	0.999978939386009	0.97
18	50923817	G	A	18	53397447	y	y	splicing	DCC(NM_005215:exon18:c.2827+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2827+1G>A;ENST00000304775:exon16:c.2395+1G>A;ENST00000412726:exon18:c.2311+1G>A;ENST00000581580:exon15:c.1732+1G>A;ENST00000579941:exon2:c.243+1G>A)	.	.	0.999990361384395	0.938
18	50923817	G	C	18	53397447	y	y	splicing	DCC(NM_005215:exon18:c.2827+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2827+1G>C;ENST00000304775:exon16:c.2395+1G>C;ENST00000412726:exon18:c.2311+1G>C;ENST00000581580:exon15:c.1732+1G>C;ENST00000579941:exon2:c.243+1G>C)	.	.	0.999990361384395	0.938
18	50923817	G	T	18	53397447	y	y	splicing	DCC(NM_005215:exon18:c.2827+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2827+1G>T;ENST00000304775:exon16:c.2395+1G>T;ENST00000412726:exon18:c.2311+1G>T;ENST00000581580:exon15:c.1732+1G>T;ENST00000579941:exon2:c.243+1G>T)	.	.	0.999990361384395	0.938
18	50923818	T	A	18	53397448	y	y	splicing	DCC(NM_005215:exon18:c.2827+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2827+2T>A;ENST00000304775:exon16:c.2395+2T>A;ENST00000412726:exon18:c.2311+2T>A;ENST00000581580:exon15:c.1732+2T>A;ENST00000579941:exon2:c.243+2T>A)	.	.	0.999988247793601	0.93
18	50923818	T	C	18	53397448	y	y	splicing	DCC(NM_005215:exon18:c.2827+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2827+2T>C;ENST00000304775:exon16:c.2395+2T>C;ENST00000412726:exon18:c.2311+2T>C;ENST00000581580:exon15:c.1732+2T>C;ENST00000579941:exon2:c.243+2T>C)	.	.	0.992783534660112	0.702
18	50923818	T	G	18	53397448	y	y	splicing	DCC(NM_005215:exon18:c.2827+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon18:c.2827+2T>G;ENST00000304775:exon16:c.2395+2T>G;ENST00000412726:exon18:c.2311+2T>G;ENST00000581580:exon15:c.1732+2T>G;ENST00000579941:exon2:c.243+2T>G)	.	.	0.999988247793601	0.93
18	50923819	A	C	18	53397449	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998392050584418	0.866
18	50923819	A	G	18	53397449	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998900258632036	0.938
18	50923819	A	T	18	53397449	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999290492487717	0.912
18	50923820	T	A	18	53397450	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.81586150186086E-5	0.04
18	50923820	T	C	18	53397450	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.28050864772747E-4	0.056
18	50923820	T	G	18	53397450	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.92120418392844E-5	0.034
18	50923821	G	A	18	53397451	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998070455628751	0.7
18	50923821	G	C	18	53397451	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997243351539507	0.74
18	50923821	G	T	18	53397451	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998855074247492	0.682
18	50923822	T	A	18	53397452	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.666435051162313	0.474
18	50923822	T	C	18	53397452	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.460150836744315	0.444
18	50923822	T	G	18	53397452	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.491253732027165	0.396
18	50923823	G	A	18	53397453	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.80716346202881E-4	0.004
18	50923823	G	C	18	53397453	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.44053392659126E-4	0.004
18	50923823	G	T	18	53397453	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.25248505924395E-5	0.0
18	50923824	A	C	18	53397454	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.120066405734302	0.244
18	50923824	A	G	18	53397454	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0237303025361889	0.16
18	50923824	A	T	18	53397454	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0396071572689364	0.17
18	50929144	C	A	18	53402774	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00136914538446485	0.27
18	50929144	C	G	18	53402774	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00167542353613129	0.132
18	50929144	C	T	18	53402774	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.0695724726418E-4	0.114
18	50929145	T	A	18	53402775	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.992916303200641	0.874
18	50929145	T	C	18	53402775	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.363007219437716	0.372
18	50929145	T	G	18	53402775	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.984006724338823	0.858
18	50929146	C	A	18	53402776	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.553671131213955	0.436
18	50929146	C	G	18	53402776	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.401402514258842	0.406
18	50929146	C	T	18	53402776	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.404215210716787	0.536
18	50929147	A	C	18	53402777	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.04593290438432E-5	0.01
18	50929147	A	G	18	53402777	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.58008566768775E-5	0.018
18	50929147	A	T	18	53402777	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.4794361728856E-5	0.004
18	50929148	C	A	18	53402778	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.99295176945232E-4	0.028
18	50929148	C	G	18	53402778	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998458118975516	0.964
18	50929148	C	T	18	53402778	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.24049412032475E-5	0.0
18	50929149	C	A	18	53402779	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00711169190035239	0.166
18	50929149	C	G	18	53402779	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0141954627194878	0.134
18	50929149	C	T	18	53402779	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.84099360776038E-4	0.026
18	50929150	T	A	18	53402780	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00459483556764947	0.244
18	50929150	T	C	18	53402780	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.12924925140052E-5	0.042
18	50929150	T	G	18	53402780	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0117090098794894	0.29
18	50929151	C	A	18	53402781	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.8628184661035E-4	0.024
18	50929151	C	G	18	53402781	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.70825952091532E-5	0.018
18	50929151	C	T	18	53402781	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.00121242672405E-6	0.022
18	50929152	A	C	18	53402782	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.92449369559854E-4	0.048
18	50929152	A	G	18	53402782	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00149947384803168	0.016
18	50929152	A	T	18	53402782	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.01863548888674E-5	0.002
18	50929153	C	A	18	53402783	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.609151847342953	0.698
18	50929153	C	G	18	53402783	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999698053153632	0.884
18	50929153	C	T	18	53402783	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00326055269918758	0.102
18	50929154	A	C	18	53402784	y	y	splicing	DCC(NM_005215:exon19:c.2828-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2828-2A>C;ENST00000304775:exon17:c.2396-2A>C;ENST00000412726:exon19:c.2312-2A>C;ENST00000581580:exon16:c.1733-2A>C;ENST00000579941:exon3:c.244-2A>C)	.	.	0.999988247793601	0.948
18	50929154	A	G	18	53402784	y	y	splicing	DCC(NM_005215:exon19:c.2828-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2828-2A>G;ENST00000304775:exon17:c.2396-2A>G;ENST00000412726:exon19:c.2312-2A>G;ENST00000581580:exon16:c.1733-2A>G;ENST00000579941:exon3:c.244-2A>G)	.	.	0.999988247793601	0.948
18	50929154	A	T	18	53402784	y	y	splicing	DCC(NM_005215:exon19:c.2828-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2828-2A>T;ENST00000304775:exon17:c.2396-2A>T;ENST00000412726:exon19:c.2312-2A>T;ENST00000581580:exon16:c.1733-2A>T;ENST00000579941:exon3:c.244-2A>T)	.	.	0.999988247793601	0.948
18	50929155	G	A	18	53402785	y	y	splicing	DCC(NM_005215:exon19:c.2828-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2828-1G>A;ENST00000304775:exon17:c.2396-1G>A;ENST00000412726:exon19:c.2312-1G>A;ENST00000581580:exon16:c.1733-1G>A;ENST00000579941:exon3:c.244-1G>A)	.	.	0.999990361384395	0.948
18	50929155	G	C	18	53402785	y	y	splicing	DCC(NM_005215:exon19:c.2828-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2828-1G>C;ENST00000304775:exon17:c.2396-1G>C;ENST00000412726:exon19:c.2312-1G>C;ENST00000581580:exon16:c.1733-1G>C;ENST00000579941:exon3:c.244-1G>C)	.	.	0.999990361384395	0.948
18	50929155	G	T	18	53402785	y	y	splicing	DCC(NM_005215:exon19:c.2828-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2828-1G>T;ENST00000304775:exon17:c.2396-1G>T;ENST00000412726:exon19:c.2312-1G>T;ENST00000581580:exon16:c.1733-1G>T;ENST00000579941:exon3:c.244-1G>T)	.	.	0.999990361384395	0.948
18	50929156	C	A	18	53402786	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.C2828A:p.A943D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1733A:p.A578D;ENSG00000187323:ENST00000442544:exon19:c.C2828A:p.A943D;ENSG00000187323:ENST00000412726:exon19:c.C2312A:p.A771D;	0.0900635891963275	0.17
18	50929156	C	G	18	53402786	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.C2828G:p.A943G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1733G:p.A578G;ENSG00000187323:ENST00000442544:exon19:c.C2828G:p.A943G;ENSG00000187323:ENST00000412726:exon19:c.C2312G:p.A771G;	0.107872082491171	0.172
18	50929156	C	T	18	53402786	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.C2828T:p.A943V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1733T:p.A578V;ENSG00000187323:ENST00000442544:exon19:c.C2828T:p.A943V;ENSG00000187323:ENST00000412726:exon19:c.C2312T:p.A771V;	0.958309864746699	0.756
18	50929157	C	A	18	53402787	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon19:c.C2829A:p.A943A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1734A:p.A578A;ENSG00000187323:ENST00000442544:exon19:c.C2829A:p.A943A;ENSG00000187323:ENST00000412726:exon19:c.C2313A:p.A771A;	0.00756570387105857	0.068
18	50929157	C	G	18	53402787	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon19:c.C2829G:p.A943A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1734G:p.A578A;ENSG00000187323:ENST00000442544:exon19:c.C2829G:p.A943A;ENSG00000187323:ENST00000412726:exon19:c.C2313G:p.A771A;	0.00315550137699694	0.04
18	50929157	C	T	18	53402787	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon19:c.C2829T:p.A943A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1734T:p.A578A;ENSG00000187323:ENST00000442544:exon19:c.C2829T:p.A943A;ENSG00000187323:ENST00000412726:exon19:c.C2313T:p.A771A;	0.00596719743445598	0.038
18	50929261	C	A	18	53402891	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.C2933A:p.T978N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1838A:p.T613N;ENSG00000187323:ENST00000442544:exon19:c.C2933A:p.T978N;ENSG00000187323:ENST00000412726:exon19:c.C2417A:p.T806N;	0.788788210064065	0.572
18	50929261	C	G	18	53402891	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.C2933G:p.T978S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1838G:p.T613S;ENSG00000187323:ENST00000442544:exon19:c.C2933G:p.T978S;ENSG00000187323:ENST00000412726:exon19:c.C2417G:p.T806S;	0.72472060918043	0.476
18	50929261	C	T	18	53402891	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.C2933T:p.T978I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.C1838T:p.T613I;ENSG00000187323:ENST00000442544:exon19:c.C2933T:p.T978I;ENSG00000187323:ENST00000412726:exon19:c.C2417T:p.T806I;	0.987915182424111	0.532
18	50929262	T	A	18	53402892	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon19:c.T2934A:p.T978T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.T1839A:p.T613T;ENSG00000187323:ENST00000442544:exon19:c.T2934A:p.T978T;ENSG00000187323:ENST00000412726:exon19:c.T2418A:p.T806T;	3.76742965818023E-5	0.072
18	50929262	T	C	18	53402892	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon19:c.T2934C:p.T978T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.T1839C:p.T613T;ENSG00000187323:ENST00000442544:exon19:c.T2934C:p.T978T;ENSG00000187323:ENST00000412726:exon19:c.T2418C:p.T806T;	3.82035599739421E-5	0.0
18	50929262	T	G	18	53402892	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon19:c.T2934G:p.T978T;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.T1839G:p.T613T;ENSG00000187323:ENST00000442544:exon19:c.T2934G:p.T978T;ENSG00000187323:ENST00000412726:exon19:c.T2418G:p.T806T;	4.00133144385296E-5	0.0
18	50929263	G	A	18	53402893	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.G2935A:p.A979T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.G1840A:p.A614T;ENSG00000187323:ENST00000442544:exon19:c.G2935A:p.A979T;ENSG00000187323:ENST00000412726:exon19:c.G2419A:p.A807T;	0.999990813623444	0.99
18	50929263	G	C	18	53402893	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.G2935C:p.A979P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.G1840C:p.A614P;ENSG00000187323:ENST00000442544:exon19:c.G2935C:p.A979P;ENSG00000187323:ENST00000412726:exon19:c.G2419C:p.A807P;	0.999996854832278	0.988
18	50929263	G	T	18	53402893	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon19:c.G2935T:p.A979S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon16:c.G1840T:p.A614S;ENSG00000187323:ENST00000442544:exon19:c.G2935T:p.A979S;ENSG00000187323:ENST00000412726:exon19:c.G2419T:p.A807S;	0.999980232724326	0.95
18	50929264	G	A	18	53402894	y	y	splicing	DCC(NM_005215:exon19:c.2935+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2935+1G>A;ENST00000304775:exon17:c.2503+1G>A;ENST00000412726:exon19:c.2419+1G>A;ENST00000581580:exon16:c.1840+1G>A;ENST00000579941:exon3:c.351+1G>A)	.	.	0.999990361384395	0.938
18	50929264	G	C	18	53402894	y	y	splicing	DCC(NM_005215:exon19:c.2935+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2935+1G>C;ENST00000304775:exon17:c.2503+1G>C;ENST00000412726:exon19:c.2419+1G>C;ENST00000581580:exon16:c.1840+1G>C;ENST00000579941:exon3:c.351+1G>C)	.	.	0.999990361384395	0.938
18	50929264	G	T	18	53402894	y	y	splicing	DCC(NM_005215:exon19:c.2935+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2935+1G>T;ENST00000304775:exon17:c.2503+1G>T;ENST00000412726:exon19:c.2419+1G>T;ENST00000581580:exon16:c.1840+1G>T;ENST00000579941:exon3:c.351+1G>T)	.	.	0.999990361384395	0.938
18	50929265	T	A	18	53402895	y	y	splicing	DCC(NM_005215:exon19:c.2935+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2935+2T>A;ENST00000304775:exon17:c.2503+2T>A;ENST00000412726:exon19:c.2419+2T>A;ENST00000581580:exon16:c.1840+2T>A;ENST00000579941:exon3:c.351+2T>A)	.	.	0.999988247793601	0.93
18	50929265	T	C	18	53402895	y	y	splicing	DCC(NM_005215:exon19:c.2935+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2935+2T>C;ENST00000304775:exon17:c.2503+2T>C;ENST00000412726:exon19:c.2419+2T>C;ENST00000581580:exon16:c.1840+2T>C;ENST00000579941:exon3:c.351+2T>C)	.	.	0.99991522016916	0.902
18	50929265	T	G	18	53402895	y	y	splicing	DCC(NM_005215:exon19:c.2935+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon19:c.2935+2T>G;ENST00000304775:exon17:c.2503+2T>G;ENST00000412726:exon19:c.2419+2T>G;ENST00000581580:exon16:c.1840+2T>G;ENST00000579941:exon3:c.351+2T>G)	.	.	0.999988247793601	0.93
18	50929266	A	C	18	53402896	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.995255831590433	0.89
18	50929266	A	G	18	53402896	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0647506070992661	0.27
18	50929266	A	T	18	53402896	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.993439200375352	0.842
18	50929267	A	C	18	53402897	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.224413449499505	0.392
18	50929267	A	G	18	53402897	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.659958037660033	0.474
18	50929267	A	T	18	53402897	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.650907370693379	0.582
18	50929268	G	A	18	53402898	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999263622925225	0.916
18	50929268	G	C	18	53402898	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999305431430504	0.934
18	50929268	G	T	18	53402898	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.9978411553615	0.87
18	50929269	C	A	18	53402899	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.01269206844522E-5	0.03
18	50929269	C	G	18	53402899	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.33975575053123E-4	0.024
18	50929269	C	T	18	53402899	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.89544291702289E-5	0.026
18	50929270	A	C	18	53402900	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.14902156710097E-4	0.014
18	50929270	A	G	18	53402900	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.59325018149123E-4	0.02
18	50929270	A	T	18	53402900	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.63470159177275E-5	0.006
18	50929271	T	A	18	53402901	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.40103517624455E-5	0.01
18	50929271	T	C	18	53402901	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.02031288334007E-5	0.0
18	50929271	T	G	18	53402901	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.40103517624455E-5	0.002
18	50936810	C	A	18	53410440	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.79020245112483E-4	0.02
18	50936810	C	G	18	53410440	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.32509304634825E-4	0.014
18	50936810	C	T	18	53410440	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.57778052363056E-5	0.002
18	50936811	T	A	18	53410441	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.571182458828282	0.526
18	50936811	T	C	18	53410441	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.105320128455145	0.278
18	50936811	T	G	18	53410441	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.323567187990909	0.536
18	50936812	A	C	18	53410442	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.33684777350849E-5	0.0
18	50936812	A	G	18	53410442	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.19975242381522E-5	0.0
18	50936812	A	T	18	53410442	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.33684777350849E-5	0.002
18	50936813	T	A	18	53410443	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0326944403213039	0.338
18	50936813	T	C	18	53410443	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00139450747474523	0.04
18	50936813	T	G	18	53410443	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999637898454003	0.96
18	50936814	T	A	18	53410444	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00240132936980236	0.15
18	50936814	T	C	18	53410444	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.55036687561517E-5	0.01
18	50936814	T	G	18	53410444	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00108141982222793	0.054
18	50936815	T	A	18	53410445	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00167296698259274	0.086
18	50936815	T	C	18	53410445	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.37651961202599E-5	0.056
18	50936815	T	G	18	53410445	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00181844892759346	0.052
18	50936816	A	C	18	53410446	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.37201205666951E-5	0.0
18	50936816	A	G	18	53410446	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.40080211503692E-5	0.0
18	50936816	A	T	18	53410446	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.68483497987356E-5	0.008
18	50936817	T	A	18	53410447	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998060524969607	0.89
18	50936817	T	C	18	53410447	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.10186194399826E-4	0.064
18	50936817	T	G	18	53410447	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999129523497836	0.948
18	50936818	G	A	18	53410448	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.53662966618439E-5	0.006
18	50936818	G	C	18	53410448	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.39594287203567E-5	0.01
18	50936818	G	T	18	53410448	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.85393201298935E-5	0.006
18	50936819	C	A	18	53410449	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.945251629021555	0.846
18	50936819	C	G	18	53410449	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999567289837569	0.612
18	50936819	C	T	18	53410449	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.013422767166369	0.178
18	50936820	A	C	18	53410450	y	y	splicing	DCC(NM_005215:exon20:c.2936-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.2936-2A>C;ENST00000304775:exon18:c.2504-2A>C;ENST00000412726:exon20:c.2420-2A>C;ENST00000581580:exon17:c.1841-2A>C;ENST00000579941:exon4:c.352-2A>C)	.	.	0.999988247793601	0.94
18	50936820	A	G	18	53410450	y	y	splicing	DCC(NM_005215:exon20:c.2936-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.2936-2A>G;ENST00000304775:exon18:c.2504-2A>G;ENST00000412726:exon20:c.2420-2A>G;ENST00000581580:exon17:c.1841-2A>G;ENST00000579941:exon4:c.352-2A>G)	.	.	0.999988247793601	0.94
18	50936820	A	T	18	53410450	y	y	splicing	DCC(NM_005215:exon20:c.2936-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.2936-2A>T;ENST00000304775:exon18:c.2504-2A>T;ENST00000412726:exon20:c.2420-2A>T;ENST00000581580:exon17:c.1841-2A>T;ENST00000579941:exon4:c.352-2A>T)	.	.	0.999988247793601	0.948
18	50936821	G	A	18	53410451	y	y	splicing	DCC(NM_005215:exon20:c.2936-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.2936-1G>A;ENST00000304775:exon18:c.2504-1G>A;ENST00000412726:exon20:c.2420-1G>A;ENST00000581580:exon17:c.1841-1G>A;ENST00000579941:exon4:c.352-1G>A)	.	.	0.999990361384395	0.946
18	50936821	G	C	18	53410451	y	y	splicing	DCC(NM_005215:exon20:c.2936-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.2936-1G>C;ENST00000304775:exon18:c.2504-1G>C;ENST00000412726:exon20:c.2420-1G>C;ENST00000581580:exon17:c.1841-1G>C;ENST00000579941:exon4:c.352-1G>C)	.	.	0.999990361384395	0.948
18	50936821	G	T	18	53410451	y	y	splicing	DCC(NM_005215:exon20:c.2936-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.2936-1G>T;ENST00000304775:exon18:c.2504-1G>T;ENST00000412726:exon20:c.2420-1G>T;ENST00000581580:exon17:c.1841-1G>T;ENST00000579941:exon4:c.352-1G>T)	.	.	0.999990361384395	0.948
18	50936822	C	A	18	53410452	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.C2936A:p.A979D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.C1841A:p.A614D;ENSG00000187323:ENST00000442544:exon20:c.C2936A:p.A979D;ENSG00000187323:ENST00000412726:exon20:c.C2420A:p.A807D;	0.013049543375448	0.062
18	50936822	C	G	18	53410452	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.C2936G:p.A979G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.C1841G:p.A614G;ENSG00000187323:ENST00000442544:exon20:c.C2936G:p.A979G;ENSG00000187323:ENST00000412726:exon20:c.C2420G:p.A807G;	0.0118964528504767	0.106
18	50936822	C	T	18	53410452	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.C2936T:p.A979V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.C1841T:p.A614V;ENSG00000187323:ENST00000442544:exon20:c.C2936T:p.A979V;ENSG00000187323:ENST00000412726:exon20:c.C2420T:p.A807V;	0.896766441767817	0.688
18	50936823	T	A	18	53410453	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon20:c.T2937A:p.A979A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.T1842A:p.A614A;ENSG00000187323:ENST00000442544:exon20:c.T2937A:p.A979A;ENSG00000187323:ENST00000412726:exon20:c.T2421A:p.A807A;	0.00196647405906652	0.068
18	50936823	T	C	18	53410453	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon20:c.T2937C:p.A979A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.T1842C:p.A614A;ENSG00000187323:ENST00000442544:exon20:c.T2937C:p.A979A;ENSG00000187323:ENST00000412726:exon20:c.T2421C:p.A807A;	0.00268903366276724	0.168
18	50936823	T	G	18	53410453	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon20:c.T2937G:p.A979A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.T1842G:p.A614A;ENSG00000187323:ENST00000442544:exon20:c.T2937G:p.A979A;ENSG00000187323:ENST00000412726:exon20:c.T2421G:p.A807A;	4.54444085979553E-4	0.096
18	50937014	A	C	18	53410644	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.A3128C:p.K1043T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.A2033C:p.K678T;ENSG00000187323:ENST00000442544:exon20:c.A3128C:p.K1043T;ENSG00000187323:ENST00000412726:exon20:c.A2612C:p.K871T;	0.213268617999398	0.474
18	50937014	A	G	18	53410644	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.A3128G:p.K1043R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.A2033G:p.K678R;ENSG00000187323:ENST00000442544:exon20:c.A3128G:p.K1043R;ENSG00000187323:ENST00000412726:exon20:c.A2612G:p.K871R;	0.951521627656465	0.63
18	50937014	A	T	18	53410644	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.A3128T:p.K1043I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.A2033T:p.K678I;ENSG00000187323:ENST00000442544:exon20:c.A3128T:p.K1043I;ENSG00000187323:ENST00000412726:exon20:c.A2612T:p.K871I;	0.999082116126045	0.898
18	50937015	A	C	18	53410645	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.A3129C:p.K1043N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.A2034C:p.K678N;ENSG00000187323:ENST00000442544:exon20:c.A3129C:p.K1043N;ENSG00000187323:ENST00000412726:exon20:c.A2613C:p.K871N;	0.999774273741283	0.978
18	50937015	A	G	18	53410645	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon20:c.A3129G:p.K1043K;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.A2034G:p.K678K;ENSG00000187323:ENST00000442544:exon20:c.A3129G:p.K1043K;ENSG00000187323:ENST00000412726:exon20:c.A2613G:p.K871K;	0.999952482717923	0.994
18	50937015	A	T	18	53410645	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.A3129T:p.K1043N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.A2034T:p.K678N;ENSG00000187323:ENST00000442544:exon20:c.A3129T:p.K1043N;ENSG00000187323:ENST00000412726:exon20:c.A2613T:p.K871N;	0.999968433161328	0.984
18	50937016	G	A	18	53410646	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.G3130A:p.V1044M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.G2035A:p.V679M;ENSG00000187323:ENST00000442544:exon20:c.G3130A:p.V1044M;ENSG00000187323:ENST00000412726:exon20:c.G2614A:p.V872M;	0.999992440786656	1.0
18	50937016	G	C	18	53410646	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.G3130C:p.V1044L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.G2035C:p.V679L;ENSG00000187323:ENST00000442544:exon20:c.G3130C:p.V1044L;ENSG00000187323:ENST00000412726:exon20:c.G2614C:p.V872L;	0.99999566822138	1.0
18	50937016	G	T	18	53410646	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon20:c.G3130T:p.V1044L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon17:c.G2035T:p.V679L;ENSG00000187323:ENST00000442544:exon20:c.G3130T:p.V1044L;ENSG00000187323:ENST00000412726:exon20:c.G2614T:p.V872L;	0.999987342278899	1.0
18	50937017	G	A	18	53410647	y	y	splicing	DCC(NM_005215:exon20:c.3130+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.3130+1G>A;ENST00000304775:exon18:c.2698+1G>A;ENST00000412726:exon20:c.2614+1G>A;ENST00000581580:exon17:c.2035+1G>A;ENST00000579941:exon4:c.546+1G>A)	.	.	0.999989125585301	0.944
18	50937017	G	C	18	53410647	y	y	splicing	DCC(NM_005215:exon20:c.3130+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.3130+1G>C;ENST00000304775:exon18:c.2698+1G>C;ENST00000412726:exon20:c.2614+1G>C;ENST00000581580:exon17:c.2035+1G>C;ENST00000579941:exon4:c.546+1G>C)	.	.	0.999989125585301	0.944
18	50937017	G	T	18	53410647	y	y	splicing	DCC(NM_005215:exon20:c.3130+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.3130+1G>T;ENST00000304775:exon18:c.2698+1G>T;ENST00000412726:exon20:c.2614+1G>T;ENST00000581580:exon17:c.2035+1G>T;ENST00000579941:exon4:c.546+1G>T)	.	.	0.999989125585301	0.944
18	50937018	T	A	18	53410648	y	y	splicing	DCC(NM_005215:exon20:c.3130+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.3130+2T>A;ENST00000304775:exon18:c.2698+2T>A;ENST00000412726:exon20:c.2614+2T>A;ENST00000581580:exon17:c.2035+2T>A;ENST00000579941:exon4:c.546+2T>A)	.	.	0.999984890425641	0.934
18	50937018	T	C	18	53410648	y	y	splicing	DCC(NM_005215:exon20:c.3130+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.3130+2T>C;ENST00000304775:exon18:c.2698+2T>C;ENST00000412726:exon20:c.2614+2T>C;ENST00000581580:exon17:c.2035+2T>C;ENST00000579941:exon4:c.546+2T>C)	.	.	0.999901344673318	0.902
18	50937018	T	G	18	53410648	y	y	splicing	DCC(NM_005215:exon20:c.3130+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon20:c.3130+2T>G;ENST00000304775:exon18:c.2698+2T>G;ENST00000412726:exon20:c.2614+2T>G;ENST00000581580:exon17:c.2035+2T>G;ENST00000579941:exon4:c.546+2T>G)	.	.	0.999984890425641	0.934
18	50937019	T	A	18	53410649	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.59958480305074E-4	0.04
18	50937019	T	C	18	53410649	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00197297928285039	0.128
18	50937019	T	G	18	53410649	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.40320906068441E-4	0.068
18	50937020	T	A	18	53410650	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.49725234491719E-4	0.058
18	50937020	T	C	18	53410650	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00105762635828597	0.094
18	50937020	T	G	18	53410650	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.4987602242443E-4	0.084
18	50937021	G	A	18	53410651	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999968963421879	0.976
18	50937021	G	C	18	53410651	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999990160128482	0.988
18	50937021	G	T	18	53410651	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999984450353137	0.992
18	50937022	A	C	18	53410652	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.35607895068679E-5	0.034
18	50937022	A	G	18	53410652	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.23700426080824E-4	0.026
18	50937022	A	T	18	53410652	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.38312211460735E-5	0.02
18	50937023	A	C	18	53410653	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.30675687931358E-5	0.0
18	50937023	A	G	18	53410653	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.34725483120292E-5	0.0
18	50937023	A	T	18	53410653	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.30675687931358E-5	0.0
18	50937024	T	A	18	53410654	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.35058513634979E-4	0.034
18	50937024	T	C	18	53410654	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00131686432899058	0.006
18	50937024	T	G	18	53410654	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.43101065152415E-4	0.006
18	50942482	T	A	18	53416112	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.27948462933011E-5	0.14
18	50942482	T	C	18	53416112	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.24344417287178E-5	0.05
18	50942482	T	G	18	53416112	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.19587291776403E-4	0.144
18	50942483	T	A	18	53416113	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.33168908755957E-4	0.096
18	50942483	T	C	18	53416113	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.21664757706912E-5	0.0
18	50942483	T	G	18	53416113	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.96283151021516E-5	0.066
18	50942484	T	A	18	53416114	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.56475168802682E-4	0.142
18	50942484	T	C	18	53416114	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.08912880457493E-5	0.004
18	50942484	T	G	18	53416114	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.80721646490259E-4	0.112
18	50942485	C	A	18	53416115	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.38055340152107E-4	0.018
18	50942485	C	G	18	53416115	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.63206483396848E-4	0.008
18	50942485	C	T	18	53416115	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.22963649052722E-5	0.002
18	50942486	C	A	18	53416116	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.44827399314472E-4	0.092
18	50942486	C	G	18	53416116	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.13087364145285E-4	0.116
18	50942486	C	T	18	53416116	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.90798744657485E-5	0.044
18	50942487	C	A	18	53416117	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00211223128370446	0.264
18	50942487	C	G	18	53416117	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00288871289034713	0.22
18	50942487	C	T	18	53416117	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.8363347463283E-5	0.126
18	50942488	C	A	18	53416118	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.68590239934266E-4	0.118
18	50942488	C	G	18	53416118	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.52628036379964E-4	0.106
18	50942488	C	T	18	53416118	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.01280276313217E-5	0.048
18	50942489	C	A	18	53416119	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998438403793604	0.768
18	50942489	C	G	18	53416119	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00275088933768146	0.134
18	50942489	C	T	18	53416119	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.34663800146756E-5	0.006
18	50942490	G	A	18	53416120	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.56012208083586E-5	0.0
18	50942490	G	C	18	53416120	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.4605528846742E-5	0.022
18	50942490	G	T	18	53416120	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.53253964173383E-5	0.002
18	50942491	C	A	18	53416121	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.992693428111322	0.678
18	50942491	C	G	18	53416121	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999911225055424	0.93
18	50942491	C	T	18	53416121	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00810895552524313	0.11
18	50942492	A	C	18	53416122	y	y	splicing	DCC(NM_005215:exon21:c.3131-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3131-2A>C;ENST00000304775:exon19:c.2699-2A>C;ENST00000412726:exon21:c.2615-2A>C;ENST00000581580:exon18:c.2036-2A>C;ENST00000579941:exon5:c.547-2A>C)	.	.	0.999689930196456	0.774
18	50942492	A	G	18	53416122	y	y	splicing	DCC(NM_005215:exon21:c.3131-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3131-2A>G;ENST00000304775:exon19:c.2699-2A>G;ENST00000412726:exon21:c.2615-2A>G;ENST00000581580:exon18:c.2036-2A>G;ENST00000579941:exon5:c.547-2A>G)	.	.	0.999689930196456	0.774
18	50942492	A	T	18	53416122	y	y	splicing	DCC(NM_005215:exon21:c.3131-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3131-2A>T;ENST00000304775:exon19:c.2699-2A>T;ENST00000412726:exon21:c.2615-2A>T;ENST00000581580:exon18:c.2036-2A>T;ENST00000579941:exon5:c.547-2A>T)	.	.	0.999689930196456	0.784
18	50942493	G	A	18	53416123	y	y	splicing	DCC(NM_005215:exon21:c.3131-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3131-1G>A;ENST00000304775:exon19:c.2699-1G>A;ENST00000412726:exon21:c.2615-1G>A;ENST00000581580:exon18:c.2036-1G>A;ENST00000579941:exon5:c.547-1G>A)	.	.	0.99993314117114	0.928
18	50942493	G	C	18	53416123	y	y	splicing	DCC(NM_005215:exon21:c.3131-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3131-1G>C;ENST00000304775:exon19:c.2699-1G>C;ENST00000412726:exon21:c.2615-1G>C;ENST00000581580:exon18:c.2036-1G>C;ENST00000579941:exon5:c.547-1G>C)	.	.	0.99993314117114	0.932
18	50942493	G	T	18	53416123	y	y	splicing	DCC(NM_005215:exon21:c.3131-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3131-1G>T;ENST00000304775:exon19:c.2699-1G>T;ENST00000412726:exon21:c.2615-1G>T;ENST00000581580:exon18:c.2036-1G>T;ENST00000579941:exon5:c.547-1G>T)	.	.	0.99993314117114	0.932
18	50942494	T	A	18	53416124	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.T3131A:p.V1044E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.T2036A:p.V679E;ENSG00000187323:ENST00000442544:exon21:c.T3131A:p.V1044E;ENSG00000187323:ENST00000412726:exon21:c.T2615A:p.V872E;	1.51286900986914E-4	0.006
18	50942494	T	C	18	53416124	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.T3131C:p.V1044A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.T2036C:p.V679A;ENSG00000187323:ENST00000442544:exon21:c.T3131C:p.V1044A;ENSG00000187323:ENST00000412726:exon21:c.T2615C:p.V872A;	2.41200845251135E-4	0.014
18	50942494	T	G	18	53416124	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.T3131G:p.V1044G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.T2036G:p.V679G;ENSG00000187323:ENST00000442544:exon21:c.T3131G:p.V1044G;ENSG00000187323:ENST00000412726:exon21:c.T2615G:p.V872G;	2.05032672883E-4	0.164
18	50942495	G	A	18	53416125	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon21:c.G3132A:p.V1044V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.G2037A:p.V679V;ENSG00000187323:ENST00000442544:exon21:c.G3132A:p.V1044V;ENSG00000187323:ENST00000412726:exon21:c.G2616A:p.V872V;	0.00154718828531148	0.148
18	50942495	G	C	18	53416125	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon21:c.G3132C:p.V1044V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.G2037C:p.V679V;ENSG00000187323:ENST00000442544:exon21:c.G3132C:p.V1044V;ENSG00000187323:ENST00000412726:exon21:c.G2616C:p.V872V;	8.7951422695111E-4	0.02
18	50942495	G	T	18	53416125	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon21:c.G3132T:p.V1044V;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.G2037T:p.V679V;ENSG00000187323:ENST00000442544:exon21:c.G3132T:p.V1044V;ENSG00000187323:ENST00000412726:exon21:c.G2616T:p.V872V;	5.91933298285173E-4	0.002
18	50942524	A	C	18	53416154	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.A3161C:p.Q1054P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.A2066C:p.Q689P;ENSG00000187323:ENST00000442544:exon21:c.A3161C:p.Q1054P;ENSG00000187323:ENST00000412726:exon21:c.A2645C:p.Q882P;	0.00226689738086543	0.024
18	50942524	A	G	18	53416154	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.A3161G:p.Q1054R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.A2066G:p.Q689R;ENSG00000187323:ENST00000442544:exon21:c.A3161G:p.Q1054R;ENSG00000187323:ENST00000412726:exon21:c.A2645G:p.Q882R;	0.00857102696099724	0.194
18	50942524	A	T	18	53416154	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.A3161T:p.Q1054L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.A2066T:p.Q689L;ENSG00000187323:ENST00000442544:exon21:c.A3161T:p.Q1054L;ENSG00000187323:ENST00000412726:exon21:c.A2645T:p.Q882L;	0.837938741397512	0.544
18	50942525	A	C	18	53416155	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.A3162C:p.Q1054H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.A2067C:p.Q689H;ENSG00000187323:ENST00000442544:exon21:c.A3162C:p.Q1054H;ENSG00000187323:ENST00000412726:exon21:c.A2646C:p.Q882H;	0.993123928931991	0.882
18	50942525	A	G	18	53416155	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon21:c.A3162G:p.Q1054Q;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.A2067G:p.Q689Q;ENSG00000187323:ENST00000442544:exon21:c.A3162G:p.Q1054Q;ENSG00000187323:ENST00000412726:exon21:c.A2646G:p.Q882Q;	0.994413815331161	0.92
18	50942525	A	T	18	53416155	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.A3162T:p.Q1054H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.A2067T:p.Q689H;ENSG00000187323:ENST00000442544:exon21:c.A3162T:p.Q1054H;ENSG00000187323:ENST00000412726:exon21:c.A2646T:p.Q882H;	0.998525100106033	0.978
18	50942526	G	A	18	53416156	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.G3163A:p.G1055S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.G2068A:p.G690S;ENSG00000187323:ENST00000442544:exon21:c.G3163A:p.G1055S;ENSG00000187323:ENST00000412726:exon21:c.G2647A:p.D883N;	0.999870840432192	0.998
18	50942526	G	C	18	53416156	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.G3163C:p.G1055R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.G2068C:p.G690R;ENSG00000187323:ENST00000442544:exon21:c.G3163C:p.G1055R;ENSG00000187323:ENST00000412726:exon21:c.G2647C:p.D883H;	0.999975914819568	0.998
18	50942526	G	T	18	53416156	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon21:c.G3163T:p.G1055C;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon18:c.G2068T:p.G690C;ENSG00000187323:ENST00000442544:exon21:c.G3163T:p.G1055C;ENSG00000187323:ENST00000412726:exon21:c.G2647T:p.D883Y;	0.999544893299775	0.992
18	50942527	G	A	18	53416157	y	y	splicing	DCC(NM_005215:exon21:c.3163+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3163+1G>A;ENST00000412726:exon21:c.2647+1G>A;ENST00000581580:exon18:c.2068+1G>A;ENST00000579941:exon5:c.579+1G>A)	.	.	0.999985532734767	0.934
18	50942527	G	C	18	53416157	y	y	splicing	DCC(NM_005215:exon21:c.3163+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3163+1G>C;ENST00000412726:exon21:c.2647+1G>C;ENST00000581580:exon18:c.2068+1G>C;ENST00000579941:exon5:c.579+1G>C)	.	.	0.999985532734767	0.934
18	50942527	G	T	18	53416157	y	y	splicing	DCC(NM_005215:exon21:c.3163+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3163+1G>T;ENST00000412726:exon21:c.2647+1G>T;ENST00000581580:exon18:c.2068+1G>T;ENST00000579941:exon5:c.579+1G>T)	.	.	0.999985532734767	0.934
18	50942528	T	A	18	53416158	y	y	splicing	DCC(NM_005215:exon21:c.3163+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3163+2T>A;ENST00000412726:exon21:c.2647+2T>A;ENST00000581580:exon18:c.2068+2T>A;ENST00000579941:exon5:c.579+2T>A)	.	.	0.999988247793601	0.926
18	50942528	T	C	18	53416158	y	y	splicing	DCC(NM_005215:exon21:c.3163+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3163+2T>C;ENST00000412726:exon21:c.2647+2T>C;ENST00000581580:exon18:c.2068+2T>C;ENST00000579941:exon5:c.579+2T>C)	.	.	0.98918007292081	0.626
18	50942528	T	G	18	53416158	y	y	splicing	DCC(NM_005215:exon21:c.3163+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon21:c.3163+2T>G;ENST00000412726:exon21:c.2647+2T>G;ENST00000581580:exon18:c.2068+2T>G;ENST00000579941:exon5:c.579+2T>G)	.	.	0.999988247793601	0.926
18	50942529	A	C	18	53416159	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.994217880016535	0.934
18	50942529	A	G	18	53416159	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.997018509706142	0.776
18	50942529	A	T	18	53416159	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.999419661645423	0.904
18	50942530	T	A	18	53416160	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	3.59586513141131E-5	0.022
18	50942530	T	C	18	53416160	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.44413795192141E-5	0.002
18	50942530	T	G	18	53416160	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	5.22601808223181E-5	0.01
18	50942531	G	A	18	53416161	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.209763523518405	0.424
18	50942531	G	C	18	53416161	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.501888434863006	0.5
18	50942531	G	T	18	53416161	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.535967531012625	0.408
18	50942532	G	A	18	53416162	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	4.24263318630611E-4	0.032
18	50942532	G	C	18	53416162	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	3.30713670542387E-4	0.094
18	50942532	G	T	18	53416162	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.39262209581242E-4	0.018
18	50942533	T	A	18	53416163	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	7.09771419396591E-5	0.004
18	50942533	T	C	18	53416163	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	7.09771419396591E-5	0.0
18	50942533	T	G	18	53416163	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.89598363400388E-5	0.0
18	50942534	G	A	18	53416164	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	7.62262090642462E-5	0.05
18	50942534	G	C	18	53416164	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	7.45081892321876E-5	0.042
18	50942534	G	T	18	53416164	y	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	6.68997292804126E-5	0.05
18	50942629	C	A	18	53416259	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.614678475782145	0.578
18	50942629	C	G	18	53416259	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.614678475782145	0.468
18	50942629	C	T	18	53416259	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.728967309557576	0.602
18	50942630	T	A	18	53416260	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.0381398868467224	0.19
18	50942630	T	C	18	53416260	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.0207672217962215	0.132
18	50942630	T	G	18	53416260	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.0207672217962215	0.138
18	50942631	G	A	18	53416261	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.0450125029976803	0.178
18	50942631	G	C	18	53416261	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.0377581666167758	0.07
18	50942631	G	T	18	53416261	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.0377581666167758	0.11
18	50942632	A	C	18	53416262	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.154870439295154	0.512
18	50942632	A	G	18	53416262	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.167031886271497	0.526
18	50942632	A	T	18	53416262	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.255374117213338	0.534
18	50942633	T	A	18	53416263	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.58261443677931E-4	0.006
18	50942633	T	C	18	53416263	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.69336657131178E-4	0.004
18	50942633	T	G	18	53416263	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.69336657131178E-4	0.004
18	50942634	G	A	18	53416264	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.33412426806665E-4	0.028
18	50942634	G	C	18	53416264	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.33412426806665E-4	0.016
18	50942634	G	T	18	53416264	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.33412426806665E-4	0.02
18	50942635	A	C	18	53416265	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.25140922822178E-4	0.004
18	50942635	A	G	18	53416265	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.25140922822178E-4	0.0
18	50942635	A	T	18	53416265	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.30197097858482E-4	0.002
18	50942636	A	C	18	53416266	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.40940918270023E-4	0.0
18	50942636	A	G	18	53416266	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	1.40940918270023E-4	0.0
18	50942636	A	T	18	53416266	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	2.30732663104013E-4	0.002
18	50942637	G	A	18	53416267	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.00123558539255655	0.016
18	50942637	G	C	18	53416267	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	9.79792697849398E-4	0.006
18	50942637	G	T	18	53416267	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.00123558539255655	0.018
18	50942638	C	A	18	53416268	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.00123558539255655	0.018
18	50942638	C	G	18	53416268	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.00123558539255655	0.014
18	50942638	C	T	18	53416268	n	y	intronic	DCC	.	.	UTR3	ENSG00000187323	.	.	0.00123558539255655	0.016
18	50942639	A	C	18	53416269	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000412726:exon22:c.2648-2A>C;ENST00000579941:exon6:c.580-2A>C)	.	.	0.784522596134489	0.744
18	50942639	A	G	18	53416269	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000412726:exon22:c.2648-2A>G;ENST00000579941:exon6:c.580-2A>G)	.	.	0.784522596134489	0.744
18	50942639	A	T	18	53416269	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000412726:exon22:c.2648-2A>T;ENST00000579941:exon6:c.580-2A>T)	.	.	0.784017488491977	0.742
18	50942640	G	A	18	53416270	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000412726:exon22:c.2648-1G>A;ENST00000579941:exon6:c.580-1G>A)	.	.	0.0126550339677199	0.132
18	50942640	G	C	18	53416270	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000412726:exon22:c.2648-1G>C;ENST00000579941:exon6:c.580-1G>C)	.	.	0.00870650430444743	0.068
18	50942640	G	T	18	53416270	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000412726:exon22:c.2648-1G>T;ENST00000579941:exon6:c.580-1G>T)	.	.	0.00870650430444743	0.088
18	50942641	A	C	18	53416271	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000412726:exon22:c.A2648C:p.D883A;	2.34152077032087E-5	0.064
18	50942641	A	G	18	53416271	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000412726:exon22:c.A2648G:p.D883G;	3.04375917686578E-4	0.01
18	50942641	A	T	18	53416271	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000412726:exon22:c.A2648T:p.D883V;	2.70806772336452E-4	0.01
18	50942642	C	A	18	53416272	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000412726:exon22:c.C2649A:p.D883E;	2.30388612349147E-4	0.006
18	50942642	C	G	18	53416272	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000412726:exon22:c.C2649G:p.D883E;	2.54700087762205E-4	0.006
18	50942642	C	T	18	53416272	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000412726:exon22:c.C2649T:p.D883D;	1.39179256655471E-4	0.036
18	50961502	C	A	18	53435132	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00153035485316018	0.03
18	50961502	C	G	18	53435132	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00247659863983412	0.05
18	50961502	C	T	18	53435132	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.93678379490685E-5	0.0
18	50961503	C	A	18	53435133	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.86363174809444E-4	0.07
18	50961503	C	G	18	53435133	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.11383620404206E-4	0.074
18	50961503	C	T	18	53435133	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.97336075671208E-5	0.038
18	50961504	C	A	18	53435134	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00131367857624626	0.068
18	50961504	C	G	18	53435134	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.47332643990185E-4	0.06
18	50961504	C	T	18	53435134	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.28672273945472E-5	0.03
18	50961505	A	C	18	53435135	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.75413801206546E-5	0.048
18	50961505	A	G	18	53435135	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.58700949912229E-4	0.026
18	50961505	A	T	18	53435135	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.13866506947606E-5	0.052
18	50961506	A	C	18	53435136	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.0342329911507E-4	0.008
18	50961506	A	G	18	53435136	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998377157755838	0.978
18	50961506	A	T	18	53435136	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.0342329911507E-4	0.046
18	50961507	T	A	18	53435137	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999869059233383	0.984
18	50961507	T	C	18	53435137	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.97158412740094E-4	0.046
18	50961507	T	G	18	53435137	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99990902754987	0.98
18	50961508	G	A	18	53435138	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.14590378379532E-5	0.01
18	50961508	G	C	18	53435138	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.03527955201854E-5	0.0
18	50961508	G	T	18	53435138	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.57803879338588E-6	0.002
18	50961509	A	C	18	53435139	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.38409912962374E-5	0.018
18	50961509	A	G	18	53435139	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.62529052754605E-4	0.014
18	50961509	A	T	18	53435139	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.96149601761306E-5	0.042
18	50961510	A	C	18	53435140	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.98870034231337E-4	0.064
18	50961510	A	G	18	53435140	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.962954130504029	0.708
18	50961510	A	T	18	53435140	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00158080327582776	0.048
18	50961511	C	A	18	53435141	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.95721843810945	0.696
18	50961511	C	G	18	53435141	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999757511840934	0.826
18	50961511	C	T	18	53435141	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0033061001524537	0.1
18	50961512	A	C	18	53435142	y	y	splicing	DCC(NM_005215:exon22:c.3164-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3164-2A>C;ENST00000581580:exon19:c.2069-2A>C)	.	.	0.999992007541056	0.932
18	50961512	A	G	18	53435142	y	y	splicing	DCC(NM_005215:exon22:c.3164-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3164-2A>G;ENST00000581580:exon19:c.2069-2A>G)	.	.	0.999992007541056	0.932
18	50961512	A	T	18	53435142	y	y	splicing	DCC(NM_005215:exon22:c.3164-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3164-2A>T;ENST00000581580:exon19:c.2069-2A>T)	.	.	0.999992007541056	0.932
18	50961513	G	A	18	53435143	y	y	splicing	DCC(NM_005215:exon22:c.3164-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3164-1G>A;ENST00000581580:exon19:c.2069-1G>A)	.	.	0.999990161071044	0.928
18	50961513	G	C	18	53435143	y	y	splicing	DCC(NM_005215:exon22:c.3164-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3164-1G>C;ENST00000581580:exon19:c.2069-1G>C)	.	.	0.999990161071044	0.928
18	50961513	G	T	18	53435143	y	y	splicing	DCC(NM_005215:exon22:c.3164-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3164-1G>T;ENST00000581580:exon19:c.2069-1G>T)	.	.	0.999990161071044	0.928
18	50961514	G	A	18	53435144	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.G3164A:p.G1055D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.G2069A:p.G690D;ENSG00000187323:ENST00000442544:exon22:c.G3164A:p.G1055D;	0.97734922223461	0.728
18	50961514	G	C	18	53435144	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.G3164C:p.G1055A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.G2069C:p.G690A;ENSG00000187323:ENST00000442544:exon22:c.G3164C:p.G1055A;	0.977378445188741	0.796
18	50961514	G	T	18	53435144	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.G3164T:p.G1055V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.G2069T:p.G690V;ENSG00000187323:ENST00000442544:exon22:c.G3164T:p.G1055V;	0.960269049319789	0.796
18	50961515	T	A	18	53435145	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon22:c.T3165A:p.G1055G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.T2070A:p.G690G;ENSG00000187323:ENST00000442544:exon22:c.T3165A:p.G1055G;	0.0597767051074796	0.182
18	50961515	T	C	18	53435145	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon22:c.T3165C:p.G1055G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.T2070C:p.G690G;ENSG00000187323:ENST00000442544:exon22:c.T3165C:p.G1055G;	0.033371229718379	0.134
18	50961515	T	G	18	53435145	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon22:c.T3165G:p.G1055G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.T2070G:p.G690G;ENSG00000187323:ENST00000442544:exon22:c.T3165G:p.G1055G;	0.0315484430529492	0.134
18	50961577	A	C	18	53435207	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.A3227C:p.N1076T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.A2132C:p.N711T;ENSG00000187323:ENST00000442544:exon22:c.A3227C:p.N1076T;	0.00260179582896284	0.014
18	50961577	A	G	18	53435207	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.A3227G:p.N1076S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.A2132G:p.N711S;ENSG00000187323:ENST00000442544:exon22:c.A3227G:p.N1076S;	0.00401787563145773	0.068
18	50961577	A	T	18	53435207	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.A3227T:p.N1076I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.A2132T:p.N711I;ENSG00000187323:ENST00000442544:exon22:c.A3227T:p.N1076I;	0.111299377146609	0.164
18	50961578	T	A	18	53435208	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.T3228A:p.N1076K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.T2133A:p.N711K;ENSG00000187323:ENST00000442544:exon22:c.T3228A:p.N1076K;	1.95656836063677E-4	0.12
18	50961578	T	C	18	53435208	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon22:c.T3228C:p.N1076N;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.T2133C:p.N711N;ENSG00000187323:ENST00000442544:exon22:c.T3228C:p.N1076N;	7.66875549408757E-5	0.002
18	50961578	T	G	18	53435208	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.T3228G:p.N1076K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.T2133G:p.N711K;ENSG00000187323:ENST00000442544:exon22:c.T3228G:p.N1076K;	5.26580021413946E-4	0.048
18	50961579	G	A	18	53435209	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.G3229A:p.E1077K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.G2134A:p.E712K;ENSG00000187323:ENST00000442544:exon22:c.G3229A:p.E1077K;	0.999495007515573	0.972
18	50961579	G	C	18	53435209	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon22:c.G3229C:p.E1077Q;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon19:c.G2134C:p.E712Q;ENSG00000187323:ENST00000442544:exon22:c.G3229C:p.E1077Q;	0.99210195639165	0.844
18	50961579	G	T	18	53435209	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon22:c.G3229T:p.E1077X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon19:c.G2134T:p.E712X;ENSG00000187323:ENST00000442544:exon22:c.G3229T:p.E1077X;	0.999917620532032	0.978
18	50961580	G	A	18	53435210	y	y	splicing	DCC(NM_005215:exon22:c.3229+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3229+1G>A;ENST00000581580:exon19:c.2134+1G>A)	.	.	0.999985532734767	0.936
18	50961580	G	C	18	53435210	y	y	splicing	DCC(NM_005215:exon22:c.3229+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3229+1G>C;ENST00000581580:exon19:c.2134+1G>C)	.	.	0.999985532734767	0.936
18	50961580	G	T	18	53435210	y	y	splicing	DCC(NM_005215:exon22:c.3229+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3229+1G>T;ENST00000581580:exon19:c.2134+1G>T)	.	.	0.999985532734767	0.936
18	50961581	T	A	18	53435211	y	y	splicing	DCC(NM_005215:exon22:c.3229+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3229+2T>A;ENST00000581580:exon19:c.2134+2T>A)	.	.	0.999988247793601	0.928
18	50961581	T	C	18	53435211	y	y	splicing	DCC(NM_005215:exon22:c.3229+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3229+2T>C;ENST00000581580:exon19:c.2134+2T>C)	.	.	0.99340600729494	0.642
18	50961581	T	G	18	53435211	y	y	splicing	DCC(NM_005215:exon22:c.3229+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon22:c.3229+2T>G;ENST00000581580:exon19:c.2134+2T>G)	.	.	0.999988247793601	0.928
18	50961582	A	C	18	53435212	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998067909157293	0.902
18	50961582	A	G	18	53435212	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.270225990369843	0.286
18	50961582	A	T	18	53435212	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.986870904853667	0.838
18	50961583	A	C	18	53435213	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0327473539966822	0.218
18	50961583	A	G	18	53435213	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.199294807333	0.284
18	50961583	A	T	18	53435213	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.155412679260997	0.246
18	50961584	G	A	18	53435214	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.997469366093054	0.866
18	50961584	G	C	18	53435214	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99164625828015	0.892
18	50961584	G	T	18	53435214	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99223526911081	0.896
18	50961585	T	A	18	53435215	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0377780151565127	0.376
18	50961585	T	C	18	53435215	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.082764795845364	0.392
18	50961585	T	G	18	53435215	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0142441234055684	0.298
18	50961586	A	C	18	53435216	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00189624938007501	0.014
18	50961586	A	G	18	53435216	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.91335385279169E-4	0.0
18	50961586	A	T	18	53435216	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.15838005414123E-4	0.0
18	50961587	T	A	18	53435217	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.95350677510464E-4	0.006
18	50961587	T	C	18	53435217	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.91335385279169E-4	0.0
18	50961587	T	G	18	53435217	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.47606634991806E-4	0.002
18	50976858	G	A	18	53450488	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.07633688773757E-5	0.0
18	50976858	G	C	18	53450488	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.44413212017649E-5	0.002
18	50976858	G	T	18	53450488	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.80918223874072E-5	0.0
18	50976859	T	A	18	53450489	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00893551740774541	0.316
18	50976859	T	C	18	53450489	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00239712871175651	0.094
18	50976859	T	G	18	53450489	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0108534100009435	0.3
18	50976860	C	A	18	53450490	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.19180341964853E-4	0.11
18	50976860	C	G	18	53450490	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.2021639611048E-5	0.006
18	50976860	C	T	18	53450490	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.48934916981439E-5	0.0
18	50976861	T	A	18	53450491	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.18966649066523E-5	0.038
18	50976861	T	C	18	53450491	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.07849203452592E-5	0.0
18	50976861	T	G	18	53450491	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.47753527923155E-4	0.03
18	50976862	T	A	18	53450492	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00134712110774931	0.134
18	50976862	T	C	18	53450492	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.66814612133563E-4	0.038
18	50976862	T	G	18	53450492	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00132753980064901	0.088
18	50976863	T	A	18	53450493	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.39226121436205E-4	0.126
18	50976863	T	C	18	53450493	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.2330907216013E-5	0.006
18	50976863	T	G	18	53450493	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.62805620747723E-4	0.1
18	50976864	T	A	18	53450494	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.9341634419334E-4	0.032
18	50976864	T	C	18	53450494	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.951561548413E-5	0.002
18	50976864	T	G	18	53450494	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.95038903402434E-4	0.076
18	50976865	C	A	18	53450495	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.32440567541696E-5	0.014
18	50976865	C	G	18	53450495	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.80430817009505E-4	0.092
18	50976865	C	T	18	53450495	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.02145032467015E-5	0.0
18	50976866	C	A	18	53450496	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.11433901956951E-4	0.002
18	50976866	C	G	18	53450496	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.11306810496637E-5	0.008
18	50976866	C	T	18	53450496	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.67314936661836E-4	0.002
18	50976867	C	A	18	53450497	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.994252370653208	0.776
18	50976867	C	G	18	53450497	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999938770439867	0.97
18	50976867	C	T	18	53450497	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.324901153103717	0.152
18	50976868	A	C	18	53450498	y	y	splicing	DCC(NM_005215:exon23:c.3230-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3230-2A>C;ENST00000581580:exon20:c.2135-2A>C)	.	.	0.999988247793601	0.93
18	50976868	A	G	18	53450498	y	y	splicing	DCC(NM_005215:exon23:c.3230-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3230-2A>G;ENST00000581580:exon20:c.2135-2A>G)	.	.	0.999988247793601	0.93
18	50976868	A	T	18	53450498	y	y	splicing	DCC(NM_005215:exon23:c.3230-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3230-2A>T;ENST00000581580:exon20:c.2135-2A>T)	.	.	0.999988247793601	0.93
18	50976869	G	A	18	53450499	y	y	splicing	DCC(NM_005215:exon23:c.3230-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3230-1G>A;ENST00000581580:exon20:c.2135-1G>A)	.	.	0.999990361384395	0.938
18	50976869	G	C	18	53450499	y	y	splicing	DCC(NM_005215:exon23:c.3230-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3230-1G>C;ENST00000581580:exon20:c.2135-1G>C)	.	.	0.999990361384395	0.938
18	50976869	G	T	18	53450499	y	y	splicing	DCC(NM_005215:exon23:c.3230-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3230-1G>T;ENST00000581580:exon20:c.2135-1G>T)	.	.	0.999990361384395	0.938
18	50976870	A	C	18	53450500	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3230C:p.E1077A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2135C:p.E712A;ENSG00000187323:ENST00000442544:exon23:c.A3230C:p.E1077A;	0.0204951808635355	0.208
18	50976870	A	G	18	53450500	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3230G:p.E1077G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2135G:p.E712G;ENSG00000187323:ENST00000442544:exon23:c.A3230G:p.E1077G;	0.0314933399916751	0.262
18	50976870	A	T	18	53450500	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3230T:p.E1077V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2135T:p.E712V;ENSG00000187323:ENST00000442544:exon23:c.A3230T:p.E1077V;	0.0397645606580629	0.248
18	50976871	G	A	18	53450501	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon23:c.G3231A:p.E1077E;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.G2136A:p.E712E;ENSG00000187323:ENST00000442544:exon23:c.G3231A:p.E1077E;	3.00208201431099E-4	0.018
18	50976871	G	C	18	53450501	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.G3231C:p.E1077D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.G2136C:p.E712D;ENSG00000187323:ENST00000442544:exon23:c.G3231C:p.E1077D;	1.67314936661836E-4	0.058
18	50976871	G	T	18	53450501	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.G3231T:p.E1077D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.G2136T:p.E712D;ENSG00000187323:ENST00000442544:exon23:c.G3231T:p.E1077D;	9.82540454601637E-5	0.0
18	50977030	A	C	18	53450660	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3390C:p.R1130S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2295C:p.R765S;ENSG00000187323:ENST00000442544:exon23:c.A3390C:p.R1130S;	6.18985023891637E-5	0.004
18	50977030	A	G	18	53450660	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon23:c.A3390G:p.R1130R;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2295G:p.R765R;ENSG00000187323:ENST00000442544:exon23:c.A3390G:p.R1130R;	0.00426381498263562	0.056
18	50977030	A	T	18	53450660	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3390T:p.R1130S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2295T:p.R765S;ENSG00000187323:ENST00000442544:exon23:c.A3390T:p.R1130S;	0.955348033020093	0.674
18	50977031	A	C	18	53450661	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3391C:p.K1131Q;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2296C:p.K766Q;ENSG00000187323:ENST00000442544:exon23:c.A3391C:p.K1131Q;	0.998941708634589	0.944
18	50977031	A	G	18	53450661	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3391G:p.K1131E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2296G:p.K766E;ENSG00000187323:ENST00000442544:exon23:c.A3391G:p.K1131E;	0.99929142452646	0.988
18	50977031	A	T	18	53450661	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon23:c.A3391T:p.K1131X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon20:c.A2296T:p.K766X;ENSG00000187323:ENST00000442544:exon23:c.A3391T:p.K1131X;	0.999959896197656	1.0
18	50977032	A	C	18	53450662	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3392C:p.K1131T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2297C:p.K766T;ENSG00000187323:ENST00000442544:exon23:c.A3392C:p.K1131T;	0.341345940301542	0.604
18	50977032	A	G	18	53450662	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3392G:p.K1131R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2297G:p.K766R;ENSG00000187323:ENST00000442544:exon23:c.A3392G:p.K1131R;	0.0357083912483745	0.148
18	50977032	A	T	18	53450662	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon23:c.A3392T:p.K1131M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon20:c.A2297T:p.K766M;ENSG00000187323:ENST00000442544:exon23:c.A3392T:p.K1131M;	0.552741313667009	0.382
18	50977033	G	A	18	53450663	y	y	splicing	DCC(NM_005215:exon23:c.3392+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3392+1G>A;ENST00000581580:exon20:c.2297+1G>A)	.	.	0.999988630721284	0.942
18	50977033	G	C	18	53450663	y	y	splicing	DCC(NM_005215:exon23:c.3392+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3392+1G>C;ENST00000581580:exon20:c.2297+1G>C)	.	.	0.999988630721284	0.942
18	50977033	G	T	18	53450663	y	y	splicing	DCC(NM_005215:exon23:c.3392+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3392+1G>T;ENST00000581580:exon20:c.2297+1G>T)	.	.	0.999988630721284	0.942
18	50977034	T	A	18	53450664	y	y	splicing	DCC(NM_005215:exon23:c.3392+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3392+2T>A;ENST00000581580:exon20:c.2297+2T>A)	.	.	0.999990764389106	0.944
18	50977034	T	C	18	53450664	y	y	splicing	DCC(NM_005215:exon23:c.3392+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3392+2T>C;ENST00000581580:exon20:c.2297+2T>C)	.	.	0.994010752020144	0.696
18	50977034	T	G	18	53450664	y	y	splicing	DCC(NM_005215:exon23:c.3392+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon23:c.3392+2T>G;ENST00000581580:exon20:c.2297+2T>G)	.	.	0.999990764389106	0.944
18	50977035	A	C	18	53450665	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999930063836135	0.954
18	50977035	A	G	18	53450665	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.988459601247657	0.932
18	50977035	A	T	18	53450665	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999216826880936	0.944
18	50977036	G	A	18	53450666	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.17895709271573E-4	0.062
18	50977036	G	C	18	53450666	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	9.5503797198128E-4	0.2
18	50977036	G	T	18	53450666	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.49364783659393E-4	0.094
18	50977037	G	A	18	53450667	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999946288748981	1.0
18	50977037	G	C	18	53450667	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999946288748981	0.998
18	50977037	G	T	18	53450667	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999946288748981	0.962
18	50977038	T	A	18	53450668	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998910236685325	0.84
18	50977038	T	C	18	53450668	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.991167414725209	0.894
18	50977038	T	G	18	53450668	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99776190643795	0.96
18	50977039	A	C	18	53450669	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.87747441935374E-4	0.006
18	50977039	A	G	18	53450669	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.4816595910341E-4	0.004
18	50977039	A	T	18	53450669	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.17014716175703E-4	0.034
18	50977040	A	C	18	53450670	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.94297564336652E-4	0.04
18	50977040	A	G	18	53450670	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.04196109378009E-4	0.03
18	50977040	A	T	18	53450670	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.76294499248936E-4	0.05
18	50985590	T	A	18	53459220	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.207138363518698	0.504
18	50985590	T	C	18	53459220	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00199755526228899	0.134
18	50985590	T	G	18	53459220	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.115125581337269	0.49
18	50985591	T	A	18	53459221	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.147177801326133	0.404
18	50985591	T	C	18	53459221	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00149251336204553	0.096
18	50985591	T	G	18	53459221	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0475155476734641	0.428
18	50985592	T	A	18	53459222	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999121673942186	0.972
18	50985592	T	C	18	53459222	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.64715178806949E-5	0.004
18	50985592	T	G	18	53459222	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00379010380229426	0.138
18	50985593	G	A	18	53459223	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.94554376344466E-5	0.002
18	50985593	G	C	18	53459223	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.71240722724942E-5	0.0
18	50985593	G	T	18	53459223	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.80918223874072E-5	0.006
18	50985594	T	A	18	53459224	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.65901639273209E-4	0.072
18	50985594	T	C	18	53459224	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.07797803644666E-5	0.004
18	50985594	T	G	18	53459224	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.06644803865974E-4	0.074
18	50985595	T	A	18	53459225	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.447779911816491	0.472
18	50985595	T	C	18	53459225	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.2330907216013E-5	0.012
18	50985595	T	G	18	53459225	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.036253154042132	0.428
18	50985596	C	A	18	53459226	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00182788494004606	0.106
18	50985596	C	G	18	53459226	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00207311206812532	0.146
18	50985596	C	T	18	53459226	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.61434537391557E-5	0.002
18	50985597	C	A	18	53459227	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.46548782842131E-5	0.006
18	50985597	C	G	18	53459227	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.01055855394982E-4	0.076
18	50985597	C	T	18	53459227	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.20518146349802E-5	0.002
18	50985598	A	C	18	53459228	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.10943960409815E-5	0.018
18	50985598	A	G	18	53459228	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.01645821644838E-5	0.006
18	50985598	A	T	18	53459228	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.78073777801798E-5	0.014
18	50985599	T	A	18	53459229	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0219327794711729	0.206
18	50985599	T	C	18	53459229	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.44448812150405E-5	0.046
18	50985599	T	G	18	53459229	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.996591461568735	0.708
18	50985600	A	C	18	53459230	y	y	splicing	DCC(NM_005215:exon24:c.3393-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3393-2A>C;ENST00000581580:exon21:c.2298-2A>C)	.	.	0.99994568797423	0.946
18	50985600	A	G	18	53459230	y	y	splicing	DCC(NM_005215:exon24:c.3393-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3393-2A>G;ENST00000581580:exon21:c.2298-2A>G)	.	.	0.99994568797423	0.946
18	50985600	A	T	18	53459230	y	y	splicing	DCC(NM_005215:exon24:c.3393-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3393-2A>T;ENST00000581580:exon21:c.2298-2A>T)	.	.	0.99994568797423	0.946
18	50985601	G	A	18	53459231	y	y	splicing	DCC(NM_005215:exon24:c.3393-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3393-1G>A;ENST00000581580:exon21:c.2298-1G>A)	.	.	0.999990361384395	0.938
18	50985601	G	C	18	53459231	y	y	splicing	DCC(NM_005215:exon24:c.3393-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3393-1G>C;ENST00000581580:exon21:c.2298-1G>C)	.	.	0.999990361384395	0.938
18	50985601	G	T	18	53459231	y	y	splicing	DCC(NM_005215:exon24:c.3393-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3393-1G>T;ENST00000581580:exon21:c.2298-1G>T)	.	.	0.999990361384395	0.938
18	50985602	G	A	18	53459232	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon24:c.G3393A:p.K1131K;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.G2298A:p.K766K;ENSG00000187323:ENST00000442544:exon24:c.G3393A:p.K1131K;	0.0187006601160863	0.264
18	50985602	G	C	18	53459232	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon24:c.G3393C:p.K1131N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.G2298C:p.K766N;ENSG00000187323:ENST00000442544:exon24:c.G3393C:p.K1131N;	0.319801328951712	0.43
18	50985602	G	T	18	53459232	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon24:c.G3393T:p.K1131N;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.G2298T:p.K766N;ENSG00000187323:ENST00000442544:exon24:c.G3393T:p.K1131N;	0.682024089617897	0.552
18	50985603	A	C	18	53459233	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon24:c.A3394C:p.K1132Q;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.A2299C:p.K767Q;ENSG00000187323:ENST00000442544:exon24:c.A3394C:p.K1132Q;	7.36783971459652E-4	0.02
18	50985603	A	G	18	53459233	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon24:c.A3394G:p.K1132E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.A2299G:p.K767E;ENSG00000187323:ENST00000442544:exon24:c.A3394G:p.K1132E;	0.0010130032420858	0.024
18	50985603	A	T	18	53459233	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon24:c.A3394T:p.K1132X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon21:c.A2299T:p.K767X;ENSG00000187323:ENST00000442544:exon24:c.A3394T:p.K1132X;	0.0512627842228723	0.454
18	50985826	C	A	18	53459456	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon24:c.C3617A:p.S1206X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon21:c.C2522A:p.S841X;ENSG00000187323:ENST00000442544:exon24:c.C3617A:p.S1206X;	0.969698938060097	0.856
18	50985826	C	G	18	53459456	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon24:c.C3617G:p.S1206X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000581580:exon21:c.C2522G:p.S841X;ENSG00000187323:ENST00000442544:exon24:c.C3617G:p.S1206X;	0.946841136119512	0.682
18	50985826	C	T	18	53459456	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon24:c.C3617T:p.S1206L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.C2522T:p.S841L;ENSG00000187323:ENST00000442544:exon24:c.C3617T:p.S1206L;	0.998263184373125	0.83
18	50985827	A	C	18	53459457	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon24:c.A3618C:p.S1206S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.A2523C:p.S841S;ENSG00000187323:ENST00000442544:exon24:c.A3618C:p.S1206S;	0.403356297457092	0.506
18	50985827	A	G	18	53459457	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon24:c.A3618G:p.S1206S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.A2523G:p.S841S;ENSG00000187323:ENST00000442544:exon24:c.A3618G:p.S1206S;	0.315191137976131	0.416
18	50985827	A	T	18	53459457	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon24:c.A3618T:p.S1206S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.A2523T:p.S841S;ENSG00000187323:ENST00000442544:exon24:c.A3618T:p.S1206S;	0.761617542631494	0.604
18	50985828	G	A	18	53459458	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon24:c.G3619A:p.G1207S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.G2524A:p.G842S;ENSG00000187323:ENST00000442544:exon24:c.G3619A:p.G1207S;	0.999984976517363	0.998
18	50985828	G	C	18	53459458	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon24:c.G3619C:p.G1207R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.G2524C:p.G842R;ENSG00000187323:ENST00000442544:exon24:c.G3619C:p.G1207R;	0.999989770162062	0.996
18	50985828	G	T	18	53459458	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon24:c.G3619T:p.G1207C;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon21:c.G2524T:p.G842C;ENSG00000187323:ENST00000442544:exon24:c.G3619T:p.G1207C;	0.999913854677631	0.986
18	50985829	G	A	18	53459459	y	y	splicing	DCC(NM_005215:exon24:c.3619+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3619+1G>A;ENST00000581580:exon21:c.2524+1G>A)	.	.	0.999990361384395	0.938
18	50985829	G	C	18	53459459	y	y	splicing	DCC(NM_005215:exon24:c.3619+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3619+1G>C;ENST00000581580:exon21:c.2524+1G>C)	.	.	0.999990361384395	0.938
18	50985829	G	T	18	53459459	y	y	splicing	DCC(NM_005215:exon24:c.3619+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3619+1G>T;ENST00000581580:exon21:c.2524+1G>T)	.	.	0.999990361384395	0.938
18	50985830	T	A	18	53459460	y	y	splicing	DCC(NM_005215:exon24:c.3619+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3619+2T>A;ENST00000581580:exon21:c.2524+2T>A)	.	.	0.999988247793601	0.932
18	50985830	T	C	18	53459460	y	y	splicing	DCC(NM_005215:exon24:c.3619+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3619+2T>C;ENST00000581580:exon21:c.2524+2T>C)	.	.	0.99340600729494	0.704
18	50985830	T	G	18	53459460	y	y	splicing	DCC(NM_005215:exon24:c.3619+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon24:c.3619+2T>G;ENST00000581580:exon21:c.2524+2T>G)	.	.	0.999988247793601	0.932
18	50985831	A	C	18	53459461	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999831984306045	0.906
18	50985831	A	G	18	53459461	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.980161476014036	0.76
18	50985831	A	T	18	53459461	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.998585405071942	0.886
18	50985832	A	C	18	53459462	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.295277900437947	0.466
18	50985832	A	G	18	53459462	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.197849770252286	0.38
18	50985832	A	T	18	53459462	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.338573851984207	0.426
18	50985833	T	A	18	53459463	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.28991246857223E-5	0.0
18	50985833	T	C	18	53459463	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.86485300078264E-5	0.0
18	50985833	T	G	18	53459463	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.39840584472831E-5	0.052
18	50985834	T	A	18	53459464	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0037924579305027	0.236
18	50985834	T	C	18	53459464	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0190646045655286	0.27
18	50985834	T	G	18	53459464	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.90792631574069E-4	0.224
18	50985835	A	C	18	53459465	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	8.1447758801122E-5	0.002
18	50985835	A	G	18	53459465	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.55826038199403E-4	0.002
18	50985835	A	T	18	53459465	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.10054642587273E-4	0.002
18	50985836	T	A	18	53459466	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.6319484272667E-5	0.034
18	50985836	T	C	18	53459466	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.98449269220386E-5	0.0
18	50985836	T	G	18	53459466	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.23792963964061E-5	0.004
18	50994252	T	A	18	53467882	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999879098426791	0.958
18	50994252	T	C	18	53467882	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	4.1803418318827E-4	0.0
18	50994252	T	G	18	53467882	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.762449341868613	0.486
18	50994253	G	A	18	53467883	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.78754294360332E-4	0.024
18	50994253	G	C	18	53467883	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.18661011733725E-5	0.0
18	50994253	G	T	18	53467883	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.55908716824608E-5	0.0
18	50994254	T	A	18	53467884	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.17725392918693	0.398
18	50994254	T	C	18	53467884	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00405219443586528	0.02
18	50994254	T	G	18	53467884	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.81879393005776	0.492
18	50994255	A	C	18	53467885	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.49184455899201E-5	0.008
18	50994255	A	G	18	53467885	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	3.39787737288512E-5	0.0
18	50994255	A	T	18	53467885	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.75693776376732E-5	0.0
18	50994256	T	A	18	53467886	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0110705789552648	0.22
18	50994256	T	C	18	53467886	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.99272092792173E-4	0.03
18	50994256	T	G	18	53467886	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.99963787981165	0.942
18	50994257	T	A	18	53467887	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0010347085666702	0.03
18	50994257	T	C	18	53467887	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.30733797728416E-4	0.03
18	50994257	T	G	18	53467887	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00226347854107312	0.04
18	50994258	T	A	18	53467888	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.184863527840493	0.344
18	50994258	T	C	18	53467888	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.50255554937272E-4	0.002
18	50994258	T	G	18	53467888	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.399964072742632	0.364
18	50994259	T	A	18	53467889	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.992782643507053	0.732
18	50994259	T	C	18	53467889	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0149399940561473	0.126
18	50994259	T	G	18	53467889	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.991602834464656	0.694
18	50994260	T	A	18	53467890	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.49074832515104E-4	0.046
18	50994260	T	C	18	53467890	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	2.29983725122817E-4	0.0
18	50994260	T	G	18	53467890	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0029426050433476	0.024
18	50994261	T	A	18	53467891	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.00218690957658828	0.164
18	50994261	T	C	18	53467891	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	5.33706461329504E-5	0.0
18	50994261	T	G	18	53467891	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.84079841114767	0.638
18	50994262	A	C	18	53467892	y	y	splicing	DCC(NM_005215:exon25:c.3620-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3620-2A>C;ENST00000581580:exon22:c.2525-2A>C)	.	.	0.999989917668626	0.926
18	50994262	A	G	18	53467892	y	y	splicing	DCC(NM_005215:exon25:c.3620-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3620-2A>G;ENST00000581580:exon22:c.2525-2A>G)	.	.	0.999989917668626	0.926
18	50994262	A	T	18	53467892	y	y	splicing	DCC(NM_005215:exon25:c.3620-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3620-2A>T;ENST00000581580:exon22:c.2525-2A>T)	.	.	0.999989917668626	0.876
18	50994263	G	A	18	53467893	y	y	splicing	DCC(NM_005215:exon25:c.3620-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3620-1G>A;ENST00000581580:exon22:c.2525-1G>A)	.	.	0.999981760802075	0.944
18	50994263	G	C	18	53467893	y	y	splicing	DCC(NM_005215:exon25:c.3620-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3620-1G>C;ENST00000581580:exon22:c.2525-1G>C)	.	.	0.999981760802075	0.944
18	50994263	G	T	18	53467893	y	y	splicing	DCC(NM_005215:exon25:c.3620-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3620-1G>T;ENST00000581580:exon22:c.2525-1G>T)	.	.	0.999981760802075	0.944
18	50994264	G	A	18	53467894	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.G3620A:p.G1207D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.G2525A:p.G842D;ENSG00000187323:ENST00000442544:exon25:c.G3620A:p.G1207D;	0.954344825403169	0.672
18	50994264	G	C	18	53467894	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.G3620C:p.G1207A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.G2525C:p.G842A;ENSG00000187323:ENST00000442544:exon25:c.G3620C:p.G1207A;	0.999124974283409	0.886
18	50994264	G	T	18	53467894	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.G3620T:p.G1207V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.G2525T:p.G842V;ENSG00000187323:ENST00000442544:exon25:c.G3620T:p.G1207V;	0.999352180114543	0.914
18	50994265	T	A	18	53467895	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon25:c.T3621A:p.G1207G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.T2526A:p.G842G;ENSG00000187323:ENST00000442544:exon25:c.T3621A:p.G1207G;	0.00102098239101016	0.044
18	50994265	T	C	18	53467895	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon25:c.T3621C:p.G1207G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.T2526C:p.G842G;ENSG00000187323:ENST00000442544:exon25:c.T3621C:p.G1207G;	0.00304274551840017	0.058
18	50994265	T	G	18	53467895	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon25:c.T3621G:p.G1207G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.T2526G:p.G842G;ENSG00000187323:ENST00000442544:exon25:c.T3621G:p.G1207G;	9.36474700554715E-4	0.058
18	50994378	C	A	18	53468008	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.C3734A:p.P1245H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.C2639A:p.P880H;ENSG00000187323:ENST00000442544:exon25:c.C3734A:p.P1245H;	0.0165023764242087	0.128
18	50994378	C	G	18	53468008	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.C3734G:p.P1245R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.C2639G:p.P880R;ENSG00000187323:ENST00000442544:exon25:c.C3734G:p.P1245R;	0.0131869856163416	0.152
18	50994378	C	T	18	53468008	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.C3734T:p.P1245L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.C2639T:p.P880L;ENSG00000187323:ENST00000442544:exon25:c.C3734T:p.P1245L;	0.389740255020737	0.39
18	50994379	T	A	18	53468009	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon25:c.T3735A:p.P1245P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.T2640A:p.P880P;ENSG00000187323:ENST00000442544:exon25:c.T3735A:p.P1245P;	1.50711222060011E-4	0.138
18	50994379	T	C	18	53468009	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon25:c.T3735C:p.P1245P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.T2640C:p.P880P;ENSG00000187323:ENST00000442544:exon25:c.T3735C:p.P1245P;	0.0011111236779261	0.012
18	50994379	T	G	18	53468009	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon25:c.T3735G:p.P1245P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.T2640G:p.P880P;ENSG00000187323:ENST00000442544:exon25:c.T3735G:p.P1245P;	0.00295433411404161	0.024
18	50994380	G	A	18	53468010	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.G3736A:p.A1246T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.G2641A:p.A881T;ENSG00000187323:ENST00000442544:exon25:c.G3736A:p.A1246T;	0.871635675146284	0.716
18	50994380	G	C	18	53468010	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.G3736C:p.A1246P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.G2641C:p.A881P;ENSG00000187323:ENST00000442544:exon25:c.G3736C:p.A1246P;	0.969264079423791	0.644
18	50994380	G	T	18	53468010	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon25:c.G3736T:p.A1246S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon22:c.G2641T:p.A881S;ENSG00000187323:ENST00000442544:exon25:c.G3736T:p.A1246S;	0.733107128690202	0.636
18	50994381	G	A	18	53468011	y	y	splicing	DCC(NM_005215:exon25:c.3736+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3736+1G>A;ENST00000581580:exon22:c.2641+1G>A)	.	.	0.999981760802075	0.938
18	50994381	G	C	18	53468011	y	y	splicing	DCC(NM_005215:exon25:c.3736+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3736+1G>C;ENST00000581580:exon22:c.2641+1G>C)	.	.	0.999981760802075	0.938
18	50994381	G	T	18	53468011	y	y	splicing	DCC(NM_005215:exon25:c.3736+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3736+1G>T;ENST00000581580:exon22:c.2641+1G>T)	.	.	0.999981760802075	0.938
18	50994382	T	A	18	53468012	y	y	splicing	DCC(NM_005215:exon25:c.3736+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3736+2T>A;ENST00000581580:exon22:c.2641+2T>A)	.	.	0.999989917668626	0.928
18	50994382	T	C	18	53468012	y	y	splicing	DCC(NM_005215:exon25:c.3736+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3736+2T>C;ENST00000581580:exon22:c.2641+2T>C)	.	.	0.999939711763648	0.866
18	50994382	T	G	18	53468012	y	y	splicing	DCC(NM_005215:exon25:c.3736+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon25:c.3736+2T>G;ENST00000581580:exon22:c.2641+2T>G)	.	.	0.999989917668626	0.926
18	50994383	G	A	18	53468013	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.27380099339358E-5	0.028
18	50994383	G	C	18	53468013	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.787391619400648	0.482
18	50994383	G	T	18	53468013	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.214656248048374	0.44
18	50994384	A	C	18	53468014	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.242343889838968	0.32
18	50994384	A	G	18	53468014	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.921624658860162	0.644
18	50994384	A	T	18	53468014	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.988911778231889	0.608
18	50994385	G	A	18	53468015	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999554092180261	0.964
18	50994385	G	C	18	53468015	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999854558074873	0.91
18	50994385	G	T	18	53468015	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.999731231644919	0.928
18	50994386	T	A	18	53468016	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.508774603595595	0.548
18	50994386	T	C	18	53468016	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.237810535041108	0.578
18	50994386	T	G	18	53468016	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	0.0678919388516747	0.374
18	50994387	C	A	18	53468017	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	7.2780784432734E-5	0.0
18	50994387	C	G	18	53468017	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.61239116152406E-4	0.0
18	50994387	C	T	18	53468017	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.09157870466948E-4	0.0
18	50994388	A	C	18	53468018	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.38153533176073E-5	0.0
18	50994388	A	G	18	53468018	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	1.32118695809042E-4	0.002
18	50994388	A	T	18	53468018	y	y	intronic	DCC	.	.	intronic	ENSG00000187323	.	.	6.38153533176073E-5	0.002
18	51013155	T	A	18	53486785	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0245025915825899	0.158
18	51013155	T	C	18	53486785	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00684521611639713	0.032
18	51013155	T	G	18	53486785	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0253937289342029	0.108
18	51013156	T	A	18	53486786	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.10600154520942	0.21
18	51013156	T	C	18	53486786	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0306763927724587	0.062
18	51013156	T	G	18	53486786	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00648151295384185	0.134
18	51013157	T	A	18	53486787	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0418412463521343	0.2
18	51013157	T	C	18	53486787	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00420203378728599	0.05
18	51013157	T	G	18	53486787	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0591298996188341	0.126
18	51013158	C	A	18	53486788	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00151103770614972	0.08
18	51013158	C	G	18	53486788	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	7.17027203252782E-4	0.032
18	51013158	C	T	18	53486788	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.77291512675197E-4	0.094
18	51013159	T	A	18	53486789	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.102524298595814	0.164
18	51013159	T	C	18	53486789	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00460623698331564	0.028
18	51013159	T	G	18	53486789	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0294864507082785	0.178
18	51013160	T	A	18	53486790	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00609781181470377	0.156
18	51013160	T	C	18	53486790	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.86235499361678E-4	0.0
18	51013160	T	G	18	53486790	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00801157603345264	0.114
18	51013161	T	A	18	53486791	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.108100171292636	0.236
18	51013161	T	C	18	53486791	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00784420614618709	0.11
18	51013161	T	G	18	53486791	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0418448010127079	0.248
18	51013162	T	A	18	53486792	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999622548031073	0.876
18	51013162	T	C	18	53486792	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00691562527129822	0.158
18	51013162	T	G	18	53486792	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0337524086233707	0.316
18	51013163	G	A	18	53486793	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.1359432476215E-4	0.006
18	51013163	G	C	18	53486793	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.84178308576834E-5	0.006
18	51013163	G	T	18	53486793	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.30636834472551E-4	0.0
18	51013164	C	A	18	53486794	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.898181326220128	0.682
18	51013164	C	G	18	53486794	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999769519887863	0.956
18	51013164	C	T	18	53486794	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.236667080041593	0.426
18	51013165	A	C	18	53486795	y	y	splicing	DCC(NM_005215:exon26:c.3737-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3737-2A>C;ENST00000581580:exon23:c.2642-2A>C)	.	.	0.999993519952936	0.928
18	51013165	A	G	18	53486795	y	y	splicing	DCC(NM_005215:exon26:c.3737-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3737-2A>G;ENST00000581580:exon23:c.2642-2A>G)	.	.	0.999993519952936	0.928
18	51013165	A	T	18	53486795	y	y	splicing	DCC(NM_005215:exon26:c.3737-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3737-2A>T;ENST00000581580:exon23:c.2642-2A>T)	.	.	0.999993519952936	0.928
18	51013166	G	A	18	53486796	y	y	splicing	DCC(NM_005215:exon26:c.3737-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3737-1G>A;ENST00000581580:exon23:c.2642-1G>A)	.	.	0.999988247793601	0.934
18	51013166	G	C	18	53486796	y	y	splicing	DCC(NM_005215:exon26:c.3737-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3737-1G>C;ENST00000581580:exon23:c.2642-1G>C)	.	.	0.999988247793601	0.934
18	51013166	G	T	18	53486796	y	y	splicing	DCC(NM_005215:exon26:c.3737-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3737-1G>T;ENST00000581580:exon23:c.2642-1G>T)	.	.	0.999988247793601	0.934
18	51013167	C	A	18	53486797	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.C3737A:p.A1246D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon23:c.C2642A:p.A881D;ENSG00000187323:ENST00000442544:exon26:c.C3737A:p.A1246D;	0.00670588375520124	0.048
18	51013167	C	G	18	53486797	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.C3737G:p.A1246G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon23:c.C2642G:p.A881G;ENSG00000187323:ENST00000442544:exon26:c.C3737G:p.A1246G;	0.00810860370443108	0.078
18	51013167	C	T	18	53486797	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.C3737T:p.A1246V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon23:c.C2642T:p.A881V;ENSG00000187323:ENST00000442544:exon26:c.C3737T:p.A1246V;	0.779964119800979	0.612
18	51013168	T	A	18	53486798	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon26:c.T3738A:p.A1246A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon23:c.T2643A:p.A881A;ENSG00000187323:ENST00000442544:exon26:c.T3738A:p.A1246A;	0.00161535014795312	0.022
18	51013168	T	C	18	53486798	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon26:c.T3738C:p.A1246A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon23:c.T2643C:p.A881A;ENSG00000187323:ENST00000442544:exon26:c.T3738C:p.A1246A;	8.77653814274683E-4	0.024
18	51013168	T	G	18	53486798	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon26:c.T3738G:p.A1246A;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon23:c.T2643G:p.A881A;ENSG00000187323:ENST00000442544:exon26:c.T3738G:p.A1246A;	7.22796584647322E-4	0.016
18	51013326	A	C	18	53486956	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.A3896C:p.Q1299P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.A3896C:p.Q1299P;	0.453487635281589	.
18	51013326	A	G	18	53486956	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.A3896G:p.Q1299R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.A3896G:p.Q1299R;	0.25520928355649	.
18	51013326	A	T	18	53486956	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.A3896T:p.Q1299L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.A3896T:p.Q1299L;	0.97646110058512	.
18	51013327	G	A	18	53486957	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon26:c.G3897A:p.Q1299Q;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.G3897A:p.Q1299Q;	0.00419795610553605	.
18	51013327	G	C	18	53486957	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.G3897C:p.Q1299H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.G3897C:p.Q1299H;	0.870221482481095	.
18	51013327	G	T	18	53486957	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.G3897T:p.Q1299H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.G3897T:p.Q1299H;	0.889528970938481	.
18	51013328	T	A	18	53486958	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.T3898A:p.S1300T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.T3898A:p.S1300T;	0.0219454775107286	.
18	51013328	T	C	18	53486958	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.T3898C:p.S1300P;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.T3898C:p.S1300P;	0.934532968896893	.
18	51013328	T	G	18	53486958	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon26:c.T3898G:p.S1300A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon26:c.T3898G:p.S1300A;	0.145863437859099	.
18	51013329	G	A	18	53486959	y	y	splicing	DCC(NM_005215:exon26:c.3898+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3898+1G>A)	.	.	0.999773094831063	.
18	51013329	G	C	18	53486959	y	y	splicing	DCC(NM_005215:exon26:c.3898+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3898+1G>C)	.	.	0.999773094831063	.
18	51013329	G	T	18	53486959	y	y	splicing	DCC(NM_005215:exon26:c.3898+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3898+1G>T)	.	.	0.999773094831063	.
18	51013330	T	A	18	53486960	y	y	splicing	DCC(NM_005215:exon26:c.3898+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3898+2T>A)	.	.	0.999728158544129	.
18	51013330	T	C	18	53486960	y	y	splicing	DCC(NM_005215:exon26:c.3898+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3898+2T>C)	.	.	0.988519556271996	.
18	51013330	T	G	18	53486960	y	y	splicing	DCC(NM_005215:exon26:c.3898+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon26:c.3898+2T>G)	.	.	0.999728158544129	.
18	51013331	A	C	18	53486961	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999433721112147	.
18	51013331	A	G	18	53486961	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.700233581210659	.
18	51013331	A	T	18	53486961	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999279982694721	.
18	51013332	A	C	18	53486962	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999127030937941	.
18	51013332	A	G	18	53486962	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.998239454346973	.
18	51013332	A	T	18	53486962	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999658004994226	.
18	51013333	T	A	18	53486963	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00181906940231689	.
18	51013333	T	C	18	53486963	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	9.74523319732275E-4	.
18	51013333	T	G	18	53486963	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.85002987138136E-4	.
18	51013334	G	A	18	53486964	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00275750133472764	.
18	51013334	G	C	18	53486964	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00231728634129888	.
18	51013334	G	T	18	53486964	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.13470481011785E-4	.
18	51013335	C	A	18	53486965	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00310168117800581	.
18	51013335	C	G	18	53486965	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00258744075819728	.
18	51013335	C	T	18	53486965	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00192846846318568	.
18	51013336	A	C	18	53486966	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00242181532658321	.
18	51013336	A	G	18	53486966	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00235513471245947	.
18	51013336	A	T	18	53486966	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00348801089482297	.
18	51025656	T	A	18	53499286	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.907758823322649	0.636
18	51025656	T	C	18	53499286	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	7.90489752047274E-4	0.104
18	51025656	T	G	18	53499286	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.831057993922059	0.648
18	51025657	C	A	18	53499287	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00273322095498146	0.106
18	51025657	C	G	18	53499287	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.91990659607936E-5	0.072
18	51025657	C	T	18	53499287	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.00840838823829E-5	0.0
18	51025658	T	A	18	53499288	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.279956682434828	0.338
18	51025658	T	C	18	53499288	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.37737861330451E-5	0.068
18	51025658	T	G	18	53499288	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.387417462340229	0.476
18	51025659	C	A	18	53499289	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.245669062009768	0.314
18	51025659	C	G	18	53499289	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0700047809315519	0.228
18	51025659	C	T	18	53499289	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00491489057971429	0.068
18	51025660	C	A	18	53499290	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.002189621731891	0.052
18	51025660	C	G	18	53499290	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00512641521041033	0.038
18	51025660	C	T	18	53499290	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.68270061657679E-5	0.0
18	51025661	A	C	18	53499291	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.77715248663653E-5	0.004
18	51025661	A	G	18	53499291	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	6.04672188342189E-5	0.02
18	51025661	A	T	18	53499291	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	9.46542783678365E-5	0.002
18	51025662	C	A	18	53499292	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00163941438757853	0.124
18	51025662	C	G	18	53499292	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999933358532852	0.95
18	51025662	C	T	18	53499292	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.97159046723495E-5	0.002
18	51025663	T	A	18	53499293	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999440439547918	0.92
18	51025663	T	C	18	53499293	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00434989861321987	0.076
18	51025663	T	G	18	53499293	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.904164024548075	0.598
18	51025664	G	A	18	53499294	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.05844690395674E-4	0.004
18	51025664	G	C	18	53499294	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.11521217462783E-5	0.002
18	51025664	G	T	18	53499294	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.87973872722899E-4	0.034
18	51025665	C	A	18	53499295	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.990316232464788	0.792
18	51025665	C	G	18	53499295	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.99974093219667	0.972
18	51025665	C	T	18	53499295	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00522841951807969	0.036
18	51025666	A	C	18	53499296	y	y	splicing	DCC(NM_005215:exon27:c.3899-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.3899-2A>C;ENST00000581580:exon24:c.2798-2A>C)	.	.	0.999988247793601	0.914
18	51025666	A	G	18	53499296	y	y	splicing	DCC(NM_005215:exon27:c.3899-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.3899-2A>G;ENST00000581580:exon24:c.2798-2A>G)	.	.	0.999988247793601	0.92
18	51025666	A	T	18	53499296	y	y	splicing	DCC(NM_005215:exon27:c.3899-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.3899-2A>T;ENST00000581580:exon24:c.2798-2A>T)	.	.	0.999988247793601	0.928
18	51025667	G	A	18	53499297	y	y	splicing	DCC(NM_005215:exon27:c.3899-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.3899-1G>A;ENST00000581580:exon24:c.2798-1G>A)	.	.	0.999989072007339	0.932
18	51025667	G	C	18	53499297	y	y	splicing	DCC(NM_005215:exon27:c.3899-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.3899-1G>C;ENST00000581580:exon24:c.2798-1G>C)	.	.	0.999989072007339	0.932
18	51025667	G	T	18	53499297	y	y	splicing	DCC(NM_005215:exon27:c.3899-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.3899-1G>T;ENST00000581580:exon24:c.2798-1G>T)	.	.	0.999989072007339	0.932
18	51025668	C	A	18	53499298	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon27:c.C3899A:p.S1300X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000442544:exon27:c.C3899A:p.S1300X;	0.972650938846189	0.846
18	51025668	C	G	18	53499298	y	y	exonic	DCC	stopgain SNV	DCC:NM_005215:exon27:c.C3899G:p.S1300X;	exonic	ENSG00000187323	stopgain SNV	ENSG00000187323:ENST00000442544:exon27:c.C3899G:p.S1300X;	0.975509017833772	0.748
18	51025668	C	T	18	53499298	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon27:c.C3899T:p.S1300L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.C2798T:p.T933I;ENSG00000187323:ENST00000442544:exon27:c.C3899T:p.S1300L;	0.0945460531979602	0.358
18	51025669	A	C	18	53499299	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon27:c.A3900C:p.S1300S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.A2799C:p.T933T;ENSG00000187323:ENST00000442544:exon27:c.A3900C:p.S1300S;	1.45376478800339E-5	0.002
18	51025669	A	G	18	53499299	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon27:c.A3900G:p.S1300S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.A2799G:p.T933T;ENSG00000187323:ENST00000442544:exon27:c.A3900G:p.S1300S;	2.59584400840725E-5	0.014
18	51025669	A	T	18	53499299	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon27:c.A3900T:p.S1300S;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.A2799T:p.T933T;ENSG00000187323:ENST00000442544:exon27:c.A3900T:p.S1300S;	7.13106523844686E-6	0.0
18	51025878	C	A	18	53499508	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon27:c.C4109A:p.P1370Q;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.C3008A:p.P1003Q;ENSG00000187323:ENST00000442544:exon27:c.C4109A:p.P1370Q;	0.0912727421849215	0.194
18	51025878	C	G	18	53499508	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon27:c.C4109G:p.P1370R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.C3008G:p.P1003R;ENSG00000187323:ENST00000442544:exon27:c.C4109G:p.P1370R;	0.0739211156613174	0.22
18	51025878	C	T	18	53499508	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon27:c.C4109T:p.P1370L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.C3008T:p.P1003L;ENSG00000187323:ENST00000442544:exon27:c.C4109T:p.P1370L;	0.998751813991024	0.962
18	51025879	A	C	18	53499509	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon27:c.A4110C:p.P1370P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.A3009C:p.P1003P;ENSG00000187323:ENST00000442544:exon27:c.A4110C:p.P1370P;	0.990164578596088	0.888
18	51025879	A	G	18	53499509	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon27:c.A4110G:p.P1370P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.A3009G:p.P1003P;ENSG00000187323:ENST00000442544:exon27:c.A4110G:p.P1370P;	0.998542953683676	0.96
18	51025879	A	T	18	53499509	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon27:c.A4110T:p.P1370P;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.A3009T:p.P1003P;ENSG00000187323:ENST00000442544:exon27:c.A4110T:p.P1370P;	0.999468284065023	0.97
18	51025880	G	A	18	53499510	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon27:c.G4111A:p.G1371R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.G3010A:p.G1004R;ENSG00000187323:ENST00000442544:exon27:c.G4111A:p.G1371R;	0.999968009144171	1.0
18	51025880	G	C	18	53499510	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon27:c.G4111C:p.G1371R;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.G3010C:p.G1004R;ENSG00000187323:ENST00000442544:exon27:c.G4111C:p.G1371R;	0.999991288582754	0.996
18	51025880	G	T	18	53499510	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon27:c.G4111T:p.G1371W;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon24:c.G3010T:p.G1004W;ENSG00000187323:ENST00000442544:exon27:c.G4111T:p.G1371W;	0.999953511423397	0.992
18	51025881	G	A	18	53499511	y	y	splicing	DCC(NM_005215:exon27:c.4111+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.4111+1G>A;ENST00000581580:exon24:c.3010+1G>A)	.	.	0.999990361384395	0.936
18	51025881	G	C	18	53499511	y	y	splicing	DCC(NM_005215:exon27:c.4111+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.4111+1G>C;ENST00000581580:exon24:c.3010+1G>C)	.	.	0.999990361384395	0.936
18	51025881	G	T	18	53499511	y	y	splicing	DCC(NM_005215:exon27:c.4111+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.4111+1G>T;ENST00000581580:exon24:c.3010+1G>T)	.	.	0.999990361384395	0.936
18	51025882	T	A	18	53499512	y	y	splicing	DCC(NM_005215:exon27:c.4111+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.4111+2T>A;ENST00000581580:exon24:c.3010+2T>A)	.	.	0.999988247793601	0.926
18	51025882	T	C	18	53499512	y	y	splicing	DCC(NM_005215:exon27:c.4111+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.4111+2T>C;ENST00000581580:exon24:c.3010+2T>C)	.	.	0.994063255842726	0.722
18	51025882	T	G	18	53499512	y	y	splicing	DCC(NM_005215:exon27:c.4111+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon27:c.4111+2T>G;ENST00000581580:exon24:c.3010+2T>G)	.	.	0.999988247793601	0.926
18	51025883	A	C	18	53499513	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999631493339137	0.972
18	51025883	A	G	18	53499513	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.936144198177064	0.69
18	51025883	A	T	18	53499513	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999076975177003	0.916
18	51025884	A	C	18	53499514	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0682140355986044	0.312
18	51025884	A	G	18	53499514	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.267936804128095	0.428
18	51025884	A	T	18	53499514	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.368047884134272	0.384
18	51025885	A	C	18	53499515	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.78041308460675E-4	0.016
18	51025885	A	G	18	53499515	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.38410639632455E-5	0.01
18	51025885	A	T	18	53499515	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.5419097609288E-4	0.004
18	51025886	G	A	18	53499516	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.91176338246967E-5	0.0
18	51025886	G	C	18	53499516	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.24174483955182E-4	0.03
18	51025886	G	T	18	53499516	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.80985944609019E-5	0.0
18	51025887	T	A	18	53499517	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.64751270577226E-4	0.064
18	51025887	T	C	18	53499517	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.69590771505239E-4	0.062
18	51025887	T	G	18	53499517	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.16495276151142E-4	0.06
18	51025888	A	C	18	53499518	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.98786759930311E-5	0.0
18	51025888	A	G	18	53499518	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.14419558760117E-5	0.0
18	51025888	A	T	18	53499518	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.41660416073757E-5	0.002
18	51052975	T	A	18	53526605	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0235288528930811	0.14
18	51052975	T	C	18	53526605	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.46091995308019E-4	0.004
18	51052975	T	G	18	53526605	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00594209374633343	0.124
18	51052976	T	A	18	53526606	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00602503200004657	0.202
18	51052976	T	C	18	53526606	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.14978327019955E-4	0.084
18	51052976	T	G	18	53526606	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0327559427207428	0.246
18	51052977	T	A	18	53526607	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.290789088589905	0.502
18	51052977	T	C	18	53526607	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.89822386122624E-4	0.014
18	51052977	T	G	18	53526607	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.354689827299802	0.506
18	51052978	C	A	18	53526608	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00172986003293426	0.082
18	51052978	C	G	18	53526608	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00143988895945541	0.072
18	51052978	C	T	18	53526608	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00530056157902674	0.084
18	51052979	T	A	18	53526609	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0266927597970003	0.222
18	51052979	T	C	18	53526609	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.84551993345634E-4	0.002
18	51052979	T	G	18	53526609	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00276597805033679	0.114
18	51052980	A	C	18	53526610	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	7.31771748737128E-5	0.004
18	51052980	A	G	18	53526610	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	6.01322598196682E-5	0.014
18	51052980	A	T	18	53526610	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.03672713909947E-4	0.002
18	51052981	T	A	18	53526611	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.854837383439782	0.668
18	51052981	T	C	18	53526611	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00419793253894569	0.12
18	51052981	T	G	18	53526611	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999537186033763	0.914
18	51052982	T	A	18	53526612	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.684722484415799	0.714
18	51052982	T	C	18	53526612	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0469160535300185	0.202
18	51052982	T	G	18	53526612	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.906706592859897	0.678
18	51052983	T	A	18	53526613	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.88372192853954E-4	0.032
18	51052983	T	C	18	53526613	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.20258098475009E-4	0.006
18	51052983	T	G	18	53526613	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.10862344874932E-4	0.014
18	51052984	C	A	18	53526614	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.749101102017643	0.518
18	51052984	C	G	18	53526614	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999768379506707	0.874
18	51052984	C	T	18	53526614	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0384690878510332	0.08
18	51052985	A	C	18	53526615	y	y	splicing	DCC(NM_005215:exon28:c.4112-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4112-2A>C;ENST00000581580:exon25:c.3011-2A>C)	.	.	0.999988247793601	0.928
18	51052985	A	G	18	53526615	y	y	splicing	DCC(NM_005215:exon28:c.4112-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4112-2A>G;ENST00000581580:exon25:c.3011-2A>G)	.	.	0.999988247793601	0.928
18	51052985	A	T	18	53526615	y	y	splicing	DCC(NM_005215:exon28:c.4112-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4112-2A>T;ENST00000581580:exon25:c.3011-2A>T)	.	.	0.999988247793601	0.928
18	51052986	G	A	18	53526616	y	y	splicing	DCC(NM_005215:exon28:c.4112-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4112-1G>A;ENST00000581580:exon25:c.3011-1G>A)	.	.	0.999985532734767	0.936
18	51052986	G	C	18	53526616	y	y	splicing	DCC(NM_005215:exon28:c.4112-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4112-1G>C;ENST00000581580:exon25:c.3011-1G>C)	.	.	0.999985532734767	0.936
18	51052986	G	T	18	53526616	y	y	splicing	DCC(NM_005215:exon28:c.4112-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4112-1G>T;ENST00000581580:exon25:c.3011-1G>T)	.	.	0.999985532734767	0.936
18	51052987	G	A	18	53526617	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.G4112A:p.G1371E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.G3011A:p.G1004E;ENSG00000187323:ENST00000442544:exon28:c.G4112A:p.G1371E;	0.576158448463679	0.51
18	51052987	G	C	18	53526617	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.G4112C:p.G1371A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.G3011C:p.G1004A;ENSG00000187323:ENST00000442544:exon28:c.G4112C:p.G1371A;	0.606854888227812	0.574
18	51052987	G	T	18	53526617	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.G4112T:p.G1371V;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.G3011T:p.G1004V;ENSG00000187323:ENST00000442544:exon28:c.G4112T:p.G1371V;	0.863653284680148	0.58
18	51052988	G	A	18	53526618	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon28:c.G4113A:p.G1371G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.G3012A:p.G1004G;ENSG00000187323:ENST00000442544:exon28:c.G4113A:p.G1371G;	6.39522783584972E-5	0.002
18	51052988	G	C	18	53526618	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon28:c.G4113C:p.G1371G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.G3012C:p.G1004G;ENSG00000187323:ENST00000442544:exon28:c.G4113C:p.G1371G;	7.64652365853835E-5	0.0
18	51052988	G	T	18	53526618	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon28:c.G4113T:p.G1371G;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.G3012T:p.G1004G;ENSG00000187323:ENST00000442544:exon28:c.G4113T:p.G1371G;	4.60123043143759E-5	0.0
18	51053127	A	C	18	53526757	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.A4252C:p.N1418H;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.A3151C:p.N1051H;ENSG00000187323:ENST00000442544:exon28:c.A4252C:p.N1418H;	8.87415318191497E-4	0.02
18	51053127	A	G	18	53526757	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.A4252G:p.N1418D;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.A3151G:p.N1051D;ENSG00000187323:ENST00000442544:exon28:c.A4252G:p.N1418D;	0.00113861445675364	0.04
18	51053127	A	T	18	53526757	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.A4252T:p.N1418Y;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.A3151T:p.N1051Y;ENSG00000187323:ENST00000442544:exon28:c.A4252T:p.N1418Y;	0.256235369031962	0.366
18	51053128	A	C	18	53526758	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.A4253C:p.N1418T;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.A3152C:p.N1051T;ENSG00000187323:ENST00000442544:exon28:c.A4253C:p.N1418T;	0.238190499307537	0.548
18	51053128	A	G	18	53526758	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.A4253G:p.N1418S;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.A3152G:p.N1051S;ENSG00000187323:ENST00000442544:exon28:c.A4253G:p.N1418S;	0.210696324879738	0.462
18	51053128	A	T	18	53526758	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.A4253T:p.N1418I;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.A3152T:p.N1051I;ENSG00000187323:ENST00000442544:exon28:c.A4253T:p.N1418I;	0.284409967718603	0.548
18	51053129	T	A	18	53526759	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.T4254A:p.N1418K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.T3153A:p.N1051K;ENSG00000187323:ENST00000442544:exon28:c.T4254A:p.N1418K;	1.09201693033106E-5	0.0
18	51053129	T	C	18	53526759	y	y	exonic	DCC	synonymous SNV	DCC:NM_005215:exon28:c.T4254C:p.N1418N;	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.T3153C:p.N1051N;ENSG00000187323:ENST00000442544:exon28:c.T4254C:p.N1418N;	8.40880350190788E-6	0.0
18	51053129	T	G	18	53526759	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon28:c.T4254G:p.N1418K;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon25:c.T3153G:p.N1051K;ENSG00000187323:ENST00000442544:exon28:c.T4254G:p.N1418K;	3.37711127003002E-5	0.084
18	51053130	G	A	18	53526760	y	y	splicing	DCC(NM_005215:exon28:c.4254+1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4254+1G>A;ENST00000581580:exon25:c.3153+1G>A)	.	.	0.99996404326833	0.796
18	51053130	G	C	18	53526760	y	y	splicing	DCC(NM_005215:exon28:c.4254+1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4254+1G>C;ENST00000581580:exon25:c.3153+1G>C)	.	.	0.999980833853725	0.764
18	51053130	G	T	18	53526760	y	y	splicing	DCC(NM_005215:exon28:c.4254+1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4254+1G>T;ENST00000581580:exon25:c.3153+1G>T)	.	.	0.999980833853725	0.778
18	51053131	T	A	18	53526761	y	y	splicing	DCC(NM_005215:exon28:c.4254+2T>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4254+2T>A;ENST00000581580:exon25:c.3153+2T>A)	.	.	0.999971317418422	0.888
18	51053131	T	C	18	53526761	y	y	splicing	DCC(NM_005215:exon28:c.4254+2T>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4254+2T>C;ENST00000581580:exon25:c.3153+2T>C)	.	.	0.96870016034936	0.57
18	51053131	T	G	18	53526761	y	y	splicing	DCC(NM_005215:exon28:c.4254+2T>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon28:c.4254+2T>G;ENST00000581580:exon25:c.3153+2T>G)	.	.	0.999972155025474	0.84
18	51053132	A	C	18	53526762	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999131863558007	0.894
18	51053132	A	G	18	53526762	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.41454178490222	0.418
18	51053132	A	T	18	53526762	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999131863558007	0.898
18	51053133	A	C	18	53526763	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.756340497917057	0.712
18	51053133	A	G	18	53526763	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.996254568087121	0.888
18	51053133	A	T	18	53526763	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.985623515068835	0.79
18	51053134	G	A	18	53526764	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999983244081834	0.974
18	51053134	G	C	18	53526764	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.99545622932458	0.566
18	51053134	G	T	18	53526764	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.999984166337008	0.978
18	51053135	G	A	18	53526765	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	6.50323228905377E-5	0.006
18	51053135	G	C	18	53526765	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.35726430680579E-5	0.002
18	51053135	G	T	18	53526765	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.41697911531537E-5	0.026
18	51053136	G	A	18	53526766	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.48607916615899E-5	0.0
18	51053136	G	C	18	53526766	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.25951982785882E-5	0.0
18	51053136	G	T	18	53526766	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.0114363142599E-5	0.0
18	51053137	C	A	18	53526767	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	7.0662774276215E-5	0.0
18	51053137	C	G	18	53526767	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.11858900557636E-4	0.038
18	51053137	C	T	18	53526767	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.98674174095525E-5	0.0
18	51056705	T	A	18	53530335	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.821824429032E-4	0.0
18	51056705	T	C	18	53530335	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.77978745885032E-4	0.0
18	51056705	T	G	18	53530335	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.36811673131396E-4	0.0
18	51056706	C	A	18	53530336	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	7.17029124203775E-5	0.0
18	51056706	C	G	18	53530336	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.94504578802962E-5	0.0
18	51056706	C	T	18	53530336	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	7.17029124203775E-5	0.0
18	51056707	C	A	18	53530337	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	9.36163572277957E-5	0.02
18	51056707	C	G	18	53530337	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	9.36163572277957E-5	0.016
18	51056707	C	T	18	53530337	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	7.75690203792411E-5	0.016
18	51056708	T	A	18	53530338	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.12967705479703E-5	0.0
18	51056708	T	C	18	53530338	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.05567792764038E-5	0.0
18	51056708	T	G	18	53530338	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.05567792764038E-5	0.0
18	51056709	T	A	18	53530339	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.44656497212392E-5	0.0
18	51056709	T	C	18	53530339	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.44656497212392E-5	0.0
18	51056709	T	G	18	53530339	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.44656497212392E-5	0.0
18	51056710	G	A	18	53530340	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.80465223468383E-5	0.01
18	51056710	G	C	18	53530340	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.80465223468383E-5	0.01
18	51056710	G	T	18	53530340	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.80465223468383E-5	0.01
18	51056711	T	A	18	53530341	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.19969732123715E-5	0.006
18	51056711	T	C	18	53530341	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.19969732123715E-5	0.006
18	51056711	T	G	18	53530341	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.19969732123715E-5	0.006
18	51056712	C	A	18	53530342	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.69831625241199E-5	0.0
18	51056712	C	G	18	53530342	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.69831625241199E-5	0.0
18	51056712	C	T	18	53530342	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.69831625241199E-5	0.0
18	51056713	A	C	18	53530343	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.46004206284423E-5	0.0
18	51056713	A	G	18	53530343	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.46004206284423E-5	0.0
18	51056713	A	T	18	53530343	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.46004206284423E-5	0.0
18	51056714	C	A	18	53530344	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.47959532904733E-5	0.026
18	51056714	C	G	18	53530344	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.47959532904733E-5	0.018
18	51056714	C	T	18	53530344	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.09774573448081E-5	0.002
18	51056715	A	C	18	53530345	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3154-2A>C)	.	.	0.00154592920084238	0.028
18	51056715	A	G	18	53530345	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3154-2A>G)	.	.	0.00154592920084238	0.028
18	51056715	A	T	18	53530345	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3154-2A>T)	.	.	0.00154592920084238	0.028
18	51056716	G	A	18	53530346	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3154-1G>A)	.	.	8.67406312561927E-6	0.0
18	51056716	G	C	18	53530346	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3154-1G>C)	.	.	8.67406312561927E-6	0.0
18	51056716	G	T	18	53530346	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3154-1G>T)	.	.	8.67406312561927E-6	0.0
18	51056717	G	A	18	53530347	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.G3154A:p.V1052M;	8.07028132666917E-5	0.004
18	51056717	G	C	18	53530347	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.G3154C:p.V1052L;	6.03514948879293E-5	0.002
18	51056717	G	T	18	53530347	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.G3154T:p.V1052L;	6.03514948879293E-5	0.002
18	51056718	T	A	18	53530348	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.T3155A:p.V1052E;	1.73686617846189E-5	0.004
18	51056718	T	C	18	53530348	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.T3155C:p.V1052A;	1.73686617846189E-5	0.004
18	51056718	T	G	18	53530348	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.T3155G:p.V1052G;	1.73686617846189E-5	0.004
18	51056784	T	A	18	53530414	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.T3221A:p.F1074Y;	2.33950268484782E-4	0.02
18	51056784	T	C	18	53530414	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.T3221C:p.F1074S;	5.67277296589876E-5	0.0
18	51056784	T	G	18	53530414	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.T3221G:p.F1074C;	8.65778582306901E-5	0.004
18	51056785	C	A	18	53530415	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.C3222A:p.F1074L;	1.63392923722222E-4	0.006
18	51056785	C	G	18	53530415	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.C3222G:p.F1074L;	1.63392923722222E-4	0.006
18	51056785	C	T	18	53530415	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	synonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.C3222T:p.F1074F;	7.10138825602451E-5	0.0
18	51056786	A	C	18	53530416	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.A3223C:p.S1075R;	6.46844991217429E-5	0.0
18	51056786	A	G	18	53530416	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.A3223G:p.S1075G;	6.46844991217429E-5	0.0
18	51056786	A	T	18	53530416	n	y	intronic	DCC	.	.	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon26:c.A3223T:p.S1075C;	6.46844991217429E-5	0.0
18	51056787	G	A	18	53530417	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3223+1G>A)	.	.	1.31189737327175E-5	0.01
18	51056787	G	C	18	53530417	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3223+1G>C)	.	.	3.25657893150842E-5	0.09
18	51056787	G	T	18	53530417	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3223+1G>T)	.	.	1.79555510419663E-5	0.01
18	51056788	T	A	18	53530418	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3223+2T>A)	.	.	4.17825650598919E-5	0.0
18	51056788	T	C	18	53530418	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3223+2T>C)	.	.	4.17825650598919E-5	0.012
18	51056788	T	G	18	53530418	n	y	intronic	DCC	.	.	splicing	ENSG00000187323(ENST00000581580:exon26:c.3223+2T>G)	.	.	4.17825650598919E-5	0.002
18	51056789	G	A	18	53530419	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.65388135286213E-5	0.0
18	51056789	G	C	18	53530419	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.65388135286213E-5	0.002
18	51056789	G	T	18	53530419	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.65388135286213E-5	0.0
18	51056790	A	C	18	53530420	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.07403771358457E-5	0.002
18	51056790	A	G	18	53530420	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.07403771358457E-5	0.002
18	51056790	A	T	18	53530420	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.07403771358457E-5	0.002
18	51056791	G	A	18	53530421	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.14301101535901E-5	0.002
18	51056791	G	C	18	53530421	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.68219155180855E-5	0.002
18	51056791	G	T	18	53530421	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.14301101535901E-5	0.002
18	51056792	T	A	18	53530422	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.20484054425989E-5	0.0
18	51056792	T	C	18	53530422	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.20484054425989E-5	0.0
18	51056792	T	G	18	53530422	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.20484054425989E-5	0.0
18	51056793	A	C	18	53530423	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.86590924201456E-5	0.0
18	51056793	A	G	18	53530423	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.86590924201456E-5	0.0
18	51056793	A	T	18	53530423	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	5.86590924201456E-5	0.0
18	51056794	T	A	18	53530424	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.32865970446788E-5	0.0
18	51056794	T	C	18	53530424	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.17825650598919E-5	0.0
18	51056794	T	G	18	53530424	n	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.17825650598919E-5	0.0
18	51056922	T	A	18	53530552	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	6.41684621991541E-4	0.202
18	51056922	T	C	18	53530552	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.72306480385383E-4	0.022
18	51056922	T	G	18	53530552	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.988102625269027	0.818
18	51056923	T	A	18	53530553	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.174932802159007	0.508
18	51056923	T	C	18	53530553	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0285359877161089	0.146
18	51056923	T	G	18	53530553	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.0752650484199726	0.486
18	51056924	C	A	18	53530554	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.015548994671815	0.202
18	51056924	C	G	18	53530554	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00555309084592596	0.184
18	51056924	C	T	18	53530554	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.53282711312792E-4	0.13
18	51056925	T	A	18	53530555	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.95345081179378E-4	0.194
18	51056925	T	C	18	53530555	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.34137736548591E-4	0.01
18	51056925	T	G	18	53530555	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.00176900684354917	0.182
18	51056926	C	A	18	53530556	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.156673062353E-4	0.016
18	51056926	C	G	18	53530556	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.93607202099159E-4	0.018
18	51056926	C	T	18	53530556	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.33766340708646E-5	0.004
18	51056927	T	A	18	53530557	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	4.30824396874516E-4	0.03
18	51056927	T	C	18	53530557	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.03521325436091E-4	0.0
18	51056927	T	G	18	53530557	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.76683076017341E-4	0.026
18	51056928	T	A	18	53530558	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.21089384670757E-4	0.06
18	51056928	T	C	18	53530558	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.96524227127452E-5	0.01
18	51056928	T	G	18	53530558	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	7.64008650469149E-5	0.09
18	51056929	T	A	18	53530559	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.81026960832641E-5	0.036
18	51056929	T	C	18	53530559	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.50890297063594E-5	0.008
18	51056929	T	G	18	53530559	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	3.31275333049809E-5	0.038
18	51056930	A	C	18	53530560	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.26929630798927E-5	0.0
18	51056930	A	G	18	53530560	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	9.98243542169882E-6	0.0
18	51056930	A	T	18	53530560	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	1.91690491486564E-5	0.006
18	51056931	T	A	18	53530561	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	2.30398765672894E-4	0.006
18	51056931	T	C	18	53530561	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	8.33920286940265E-5	0.0
18	51056931	T	G	18	53530561	y	y	intronic	DCC	.	.	ncRNA_intronic	ENSG00000264263	.	.	0.271135607087399	0.36
18	51056932	A	C	18	53530562	y	y	splicing	DCC(NM_005215:exon29:c.4255-2A>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon29:c.4255-2A>C;ENST00000581580:exon27:c.3224-2A>C)	.	.	0.999972155025474	0.864
18	51056932	A	G	18	53530562	y	y	splicing	DCC(NM_005215:exon29:c.4255-2A>G)	.	.	splicing	ENSG00000187323(ENST00000442544:exon29:c.4255-2A>G;ENST00000581580:exon27:c.3224-2A>G)	.	.	0.999972155025474	0.868
18	51056932	A	T	18	53530562	y	y	splicing	DCC(NM_005215:exon29:c.4255-2A>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon29:c.4255-2A>T;ENST00000581580:exon27:c.3224-2A>T)	.	.	0.999971317418422	0.892
18	51056933	G	A	18	53530563	y	y	splicing	DCC(NM_005215:exon29:c.4255-1G>A)	.	.	splicing	ENSG00000187323(ENST00000442544:exon29:c.4255-1G>A;ENST00000581580:exon27:c.3224-1G>A)	.	.	0.999971209564868	0.936
18	51056933	G	C	18	53530563	y	y	splicing	DCC(NM_005215:exon29:c.4255-1G>C)	.	.	splicing	ENSG00000187323(ENST00000442544:exon29:c.4255-1G>C;ENST00000581580:exon27:c.3224-1G>C)	.	.	0.999976475802857	0.906
18	51056933	G	T	18	53530563	y	y	splicing	DCC(NM_005215:exon29:c.4255-1G>T)	.	.	splicing	ENSG00000187323(ENST00000442544:exon29:c.4255-1G>T;ENST00000581580:exon27:c.3224-1G>T)	.	.	0.999970205305079	0.924
18	51056934	G	A	18	53530564	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon29:c.G4255A:p.V1419M;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon27:c.G3224A:p.S1075N;ENSG00000187323:ENST00000442544:exon29:c.G4255A:p.V1419M;	0.397068435128618	0.512
18	51056934	G	C	18	53530564	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon29:c.G4255C:p.V1419L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon27:c.G3224C:p.S1075T;ENSG00000187323:ENST00000442544:exon29:c.G4255C:p.V1419L;	0.389705129295266	0.538
18	51056934	G	T	18	53530564	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon29:c.G4255T:p.V1419L;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon27:c.G3224T:p.S1075I;ENSG00000187323:ENST00000442544:exon29:c.G4255T:p.V1419L;	0.752323423119584	0.48
18	51056935	T	A	18	53530565	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon29:c.T4256A:p.V1419E;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon27:c.T3225A:p.S1075R;ENSG00000187323:ENST00000442544:exon29:c.T4256A:p.V1419E;	0.0126451658478169	0.116
18	51056935	T	C	18	53530565	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon29:c.T4256C:p.V1419A;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000442544:exon29:c.T4256C:p.V1419A;	0.021373300875186	0.24
18	51056935	T	G	18	53530565	y	y	exonic	DCC	nonsynonymous SNV	DCC:NM_005215:exon29:c.T4256G:p.V1419G;	exonic	ENSG00000187323	nonsynonymous SNV	ENSG00000187323:ENST00000581580:exon27:c.T3225G:p.S1075R;ENSG00000187323:ENST00000442544:exon29:c.T4256G:p.V1419G;	0.00645685190827251	0.114
18	51681680	A	C	18	54155310	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.00101966802818028	0.044
18	51681680	A	G	18	54155310	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.00101000325471004	0.05
18	51681680	A	T	18	54155310	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	7.96639342188802E-4	0.028
18	51681681	C	A	18	54155311	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.345457979412278	0.416
18	51681681	C	G	18	54155311	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.108781965927792	0.464
18	51681681	C	T	18	54155311	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.056477897707132	0.406
18	51681682	C	A	18	54155312	y	y	splicing	MBD2(NM_003927:exon8:c.1249-1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon8:c.1249-1G>T)	.	.	0.999958003653399	0.844
18	51681682	C	G	18	54155312	y	y	splicing	MBD2(NM_003927:exon8:c.1249-1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon8:c.1249-1G>C)	.	.	0.999958003653399	0.82
18	51681682	C	T	18	54155312	y	y	splicing	MBD2(NM_003927:exon8:c.1249-1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon8:c.1249-1G>A)	.	.	0.999958003653399	0.862
18	51681683	T	A	18	54155313	y	y	splicing	MBD2(NM_003927:exon8:c.1249-2A>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon8:c.1249-2A>T)	.	.	0.999962958601995	0.794
18	51681683	T	C	18	54155313	y	y	splicing	MBD2(NM_003927:exon8:c.1249-2A>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon8:c.1249-2A>G)	.	.	0.999980255680118	0.774
18	51681683	T	G	18	54155313	y	y	splicing	MBD2(NM_003927:exon8:c.1249-2A>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon8:c.1249-2A>C)	.	.	0.999980255680118	0.774
18	51681684	G	A	18	54155314	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00112429535434512	0.15
18	51681684	G	C	18	54155314	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.994768370442347	0.73
18	51681684	G	T	18	54155314	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.19402957128221	0.384
18	51681685	T	A	18	54155315	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.29524628010537E-4	0.088
18	51681685	T	C	18	54155315	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.498481240328219	0.486
18	51681685	T	G	18	54155315	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	7.32615291316476E-5	0.228
18	51681686	T	A	18	54155316	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	9.93916360999009E-6	0.008
18	51681686	T	C	18	54155316	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.60855821591075E-5	0.006
18	51681686	T	G	18	54155316	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.99887525935355E-5	0.136
18	51681687	A	C	18	54155317	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.80593595821979E-5	0.036
18	51681687	A	G	18	54155317	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.87279428565258E-5	0.024
18	51681687	A	T	18	54155317	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.79084581063831E-5	0.018
18	51681688	A	C	18	54155318	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.20551745707911E-5	0.012
18	51681688	A	G	18	54155318	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.47372043377052E-5	0.072
18	51681688	A	T	18	54155318	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.29103549512724E-5	0.022
18	51681689	A	C	18	54155319	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.84242900654518E-4	0.046
18	51681689	A	G	18	54155319	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.09800352169332E-5	0.102
18	51681689	A	T	18	54155319	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.52291937905971E-5	0.092
18	51681690	A	C	18	54155320	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.78841734597436E-5	0.142
18	51681690	A	G	18	54155320	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.16110394259751E-5	0.114
18	51681690	A	T	18	54155320	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.87070598800138E-5	0.08
18	51681691	A	C	18	54155321	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.21126757229538E-5	0.032
18	51681691	A	G	18	54155321	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.11078203375949E-5	0.004
18	51681691	A	T	18	54155321	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.01046609387229E-4	0.03
18	51681692	A	C	18	54155322	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.70159816004981E-4	0.126
18	51681692	A	G	18	54155322	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	8.67126301412833E-5	0.036
18	51681692	A	T	18	54155322	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.01410751940166E-4	0.098
18	51681693	A	C	18	54155323	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.5495022695916E-4	0.194
18	51681693	A	G	18	54155323	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.32152442069911E-4	0.124
18	51681693	A	T	18	54155323	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.53818760985562E-4	0.176
18	51686127	C	A	18	54159757	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	9.16902342913879E-5	0.0
18	51686127	C	G	18	54159757	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.02973762666822E-4	0.002
18	51686127	C	T	18	54159757	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.66641391676558E-5	0.0
18	51686128	A	C	18	54159758	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	2.72921863071145E-5	0.0
18	51686128	A	G	18	54159758	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	2.21599610917379E-5	0.0
18	51686128	A	T	18	54159758	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	2.44577953011022E-5	0.0
18	51686129	G	A	18	54159759	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	1.13821548882163E-4	0.008
18	51686129	G	C	18	54159759	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	1.23129119774572E-4	0.024
18	51686129	G	T	18	54159759	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	8.055902799643E-5	0.024
18	51686130	T	A	18	54159760	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	4.0743324268509E-4	0.06
18	51686130	T	C	18	54159760	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	7.52039467268195E-5	0.044
18	51686130	T	G	18	54159760	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	1.25063250862601E-4	0.046
18	51686131	T	A	18	54159761	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.191514219674444	0.388
18	51686131	T	C	18	54159761	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.126569284142583	0.34
18	51686131	T	G	18	54159761	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0166869462291184	0.322
18	51686132	T	A	18	54159762	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.996832145898359	0.816
18	51686132	T	C	18	54159762	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0445587310741092	0.456
18	51686132	T	G	18	54159762	y	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.986096258085969	0.798
18	51686133	A	C	18	54159763	y	y	splicing	MBD2(NM_003927:exon7:c.1248+2T>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1248+2T>G)	.	.	0.999988247793601	0.928
18	51686133	A	G	18	54159763	y	y	splicing	MBD2(NM_003927:exon7:c.1248+2T>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1248+2T>C)	.	.	0.98918007292081	0.674
18	51686133	A	T	18	54159763	y	y	splicing	MBD2(NM_003927:exon7:c.1248+2T>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1248+2T>A)	.	.	0.999988247793601	0.928
18	51686134	C	A	18	54159764	y	y	splicing	MBD2(NM_003927:exon7:c.1248+1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1248+1G>T)	.	.	0.999990361384395	0.936
18	51686134	C	G	18	54159764	y	y	splicing	MBD2(NM_003927:exon7:c.1248+1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1248+1G>C)	.	.	0.999990361384395	0.936
18	51686134	C	T	18	54159764	y	y	splicing	MBD2(NM_003927:exon7:c.1248+1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1248+1G>A)	.	.	0.999990361384395	0.936
18	51686135	C	A	18	54159765	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.999952306955494	1.0
18	51686135	C	G	18	54159765	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.999991288582754	1.0
18	51686135	C	T	18	54159765	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.999965618732742	1.0
18	51686136	T	A	18	54159766	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.999798831746007	0.994
18	51686136	T	C	18	54159766	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.999161782279177	0.998
18	51686136	T	G	18	54159766	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.998528428300998	0.98
18	51686137	G	A	18	54159767	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.997840839503722	0.94
18	51686137	G	C	18	54159767	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.610537046816983	0.494
18	51686137	G	T	18	54159767	y	y	UTR3	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.750510886981316	0.572
18	51686272	T	A	18	54159902	y	y	exonic	MBD2	stopgain SNV	MBD2:NM_003927:exon6:c.A1111T:p.K371X;	exonic	ENSG00000134046	stopgain SNV	ENSG00000134046:ENST00000256429:exon6:c.A1111T:p.K371X;	0.0781001976058321	0.55
18	51686272	T	C	18	54159902	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon6:c.A1111G:p.K371E;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon6:c.A1111G:p.K371E;	0.0734675777065831	0.256
18	51686272	T	G	18	54159902	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon6:c.A1111C:p.K371Q;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon6:c.A1111C:p.K371Q;	0.154404361036817	0.308
18	51686273	C	A	18	54159903	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon6:c.G1110T:p.R370S;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon6:c.G1110T:p.R370S;	0.999081479906409	0.982
18	51686273	C	G	18	54159903	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon6:c.G1110C:p.R370S;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon6:c.G1110C:p.R370S;	0.997634509618891	0.968
18	51686273	C	T	18	54159903	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon6:c.G1110A:p.R370R;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000256429:exon6:c.G1110A:p.R370R;	0.967684457821809	0.764
18	51686274	C	A	18	54159904	y	y	splicing	MBD2(NM_003927:exon7:c.1110-1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1110-1G>T;ENST00000578272:exon7:c.556-1G>T)	.	.	0.999992568075586	0.932
18	51686274	C	G	18	54159904	y	y	splicing	MBD2(NM_003927:exon7:c.1110-1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1110-1G>C;ENST00000578272:exon7:c.556-1G>C)	.	.	0.999992568075586	0.932
18	51686274	C	T	18	54159904	y	y	splicing	MBD2(NM_003927:exon7:c.1110-1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1110-1G>A;ENST00000578272:exon7:c.556-1G>A)	.	.	0.999992568075586	0.932
18	51686275	T	A	18	54159905	y	y	splicing	MBD2(NM_003927:exon7:c.1110-2A>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1110-2A>T;ENST00000578272:exon7:c.556-2A>T)	.	.	0.999992007541056	0.932
18	51686275	T	C	18	54159905	y	y	splicing	MBD2(NM_003927:exon7:c.1110-2A>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1110-2A>G;ENST00000578272:exon7:c.556-2A>G)	.	.	0.999992007541056	0.932
18	51686275	T	G	18	54159905	y	y	splicing	MBD2(NM_003927:exon7:c.1110-2A>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon7:c.1110-2A>C;ENST00000578272:exon7:c.556-2A>C)	.	.	0.999992007541056	0.932
18	51686276	T	A	18	54159906	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00106170775172427	0.048
18	51686276	T	C	18	54159906	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.684680249929229	0.44
18	51686276	T	G	18	54159906	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.80219828742131E-4	0.066
18	51686277	T	A	18	54159907	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0266541596982116	0.212
18	51686277	T	C	18	54159907	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.997931566562653	0.958
18	51686277	T	G	18	54159907	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00587383629654284	0.124
18	51686278	T	A	18	54159908	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.69036345399946E-5	0.052
18	51686278	T	C	18	54159908	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.998435632745873	0.894
18	51686278	T	G	18	54159908	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.41239203925394E-5	0.044
18	51686279	T	A	18	54159909	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.86877577151688E-5	0.0
18	51686279	T	C	18	54159909	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	8.47432811628562E-5	0.004
18	51686279	T	G	18	54159909	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.76530226433191E-5	0.002
18	51686280	A	C	18	54159910	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.377909893016013	0.55
18	51686280	A	G	18	54159910	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.11819151234623E-4	0.07
18	51686280	A	T	18	54159910	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.646836543349755	0.59
18	51686281	A	C	18	54159911	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.985518941795269	0.744
18	51686281	A	G	18	54159911	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00844679780141379	0.288
18	51686281	A	T	18	54159911	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.986608201844154	0.748
18	51686282	A	C	18	54159912	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.788324902037518	0.626
18	51686282	A	G	18	54159912	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00127096824783612	0.062
18	51686282	A	T	18	54159912	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.890591593842807	0.652
18	51686283	A	C	18	54159913	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.899331049580125	0.62
18	51686283	A	G	18	54159913	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00391739418642988	0.112
18	51686283	A	T	18	54159913	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.99595273998375	0.826
18	51686284	A	C	18	54159914	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.986340287715827	0.664
18	51686284	A	G	18	54159914	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.179537665121601	0.3
18	51686284	A	T	18	54159914	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.994325490662248	0.696
18	51686285	C	A	18	54159915	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.70732325431407E-5	0.006
18	51686285	C	G	18	54159915	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.37908449925498E-5	0.0
18	51686285	C	T	18	54159915	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.47824539013929E-4	0.008
18	51690885	T	A	18	54164515	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.05309614883202E-4	0.0
18	51690885	T	C	18	54164515	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	8.0311458103942E-5	0.006
18	51690885	T	G	18	54164515	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.41254843425346E-4	0.002
18	51690886	G	A	18	54164516	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00198837386438128	0.13
18	51690886	G	C	18	54164516	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00287813496916599	0.134
18	51690886	G	T	18	54164516	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00710903870247532	0.14
18	51690887	C	A	18	54164517	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.3327647156483E-5	0.002
18	51690887	C	G	18	54164517	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00122670400167251	0.074
18	51690887	C	T	18	54164517	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.83714976246E-4	0.012
18	51690888	A	C	18	54164518	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.22837153989545E-5	0.006
18	51690888	A	G	18	54164518	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.83614547097272E-5	0.004
18	51690888	A	T	18	54164518	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.9717983325369E-5	0.006
18	51690889	T	A	18	54164519	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.590785046718907	0.444
18	51690889	T	C	18	54164519	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.887879144738575	0.676
18	51690889	T	G	18	54164519	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.447598708068225	0.512
18	51690890	T	A	18	54164520	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999910321588006	0.928
18	51690890	T	C	18	54164520	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.979546964759473	0.808
18	51690890	T	G	18	54164520	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999833734310619	0.896
18	51690891	A	C	18	54164521	y	y	splicing	MBD2(NM_003927:exon6:c.1109+2T>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.1109+2T>G;ENST00000578272:exon6:c.555+2T>G)	.	.	0.999988247793601	0.93
18	51690891	A	G	18	54164521	y	y	splicing	MBD2(NM_003927:exon6:c.1109+2T>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.1109+2T>C;ENST00000578272:exon6:c.555+2T>C)	.	.	0.994669226766359	0.634
18	51690891	A	T	18	54164521	y	y	splicing	MBD2(NM_003927:exon6:c.1109+2T>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.1109+2T>A;ENST00000578272:exon6:c.555+2T>A)	.	.	0.999988247793601	0.93
18	51690892	C	A	18	54164522	y	y	splicing	MBD2(NM_003927:exon6:c.1109+1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.1109+1G>T;ENST00000578272:exon6:c.555+1G>T)	.	.	0.999989072007339	0.934
18	51690892	C	G	18	54164522	y	y	splicing	MBD2(NM_003927:exon6:c.1109+1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.1109+1G>C;ENST00000578272:exon6:c.555+1G>C)	.	.	0.999989072007339	0.934
18	51690892	C	T	18	54164522	y	y	splicing	MBD2(NM_003927:exon6:c.1109+1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.1109+1G>A;ENST00000578272:exon6:c.555+1G>A)	.	.	0.999989072007339	0.934
18	51690893	C	A	18	54164523	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.G1109T:p.R370M;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.G1109T:p.R370M;	0.999988452656952	1.0
18	51690893	C	G	18	54164523	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.G1109C:p.R370T;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.G1109C:p.R370T;	0.99999774324664	0.998
18	51690893	C	T	18	54164523	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.G1109A:p.R370K;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.G1109A:p.R370K;	0.999993449494972	1.0
18	51690894	T	A	18	54164524	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.A1108T:p.R370W;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.A1108T:p.R370W;	0.999950062478187	1.0
18	51690894	T	C	18	54164524	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.A1108G:p.R370G;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.A1108G:p.R370G;	0.999906662701281	1.0
18	51690894	T	G	18	54164524	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon5:c.A1108C:p.R370R;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.A1108C:p.R370R;	0.999074897158514	0.972
18	51690895	G	A	18	54164525	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon5:c.C1107T:p.I369I;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.C1107T:p.I369I;	0.0396920510499459	0.242
18	51690895	G	C	18	54164525	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.C1107G:p.I369M;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.C1107G:p.I369M;	3.58712858619679E-5	0.024
18	51690895	G	T	18	54164525	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon5:c.C1107A:p.I369I;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.C1107A:p.I369I;	1.88745132884978E-4	0.024
18	51691069	T	A	18	54164699	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon5:c.A933T:p.G311G;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.A933T:p.G311G;	4.84732841169955E-4	0.006
18	51691069	T	C	18	54164699	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon5:c.A933G:p.G311G;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.A933G:p.G311G;	6.16530443067412E-4	0.01
18	51691069	T	G	18	54164699	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon5:c.A933C:p.G311G;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.A933C:p.G311G;	9.87395858448343E-4	0.018
18	51691070	C	A	18	54164700	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.G932T:p.G311V;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.G932T:p.G311V;	0.999709113711974	1.0
18	51691070	C	G	18	54164700	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.G932C:p.G311A;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.G932C:p.G311A;	0.999663152906768	0.968
18	51691070	C	T	18	54164700	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon5:c.G932A:p.G311E;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon5:c.G932A:p.G311E;	0.999000481278226	0.89
18	51691071	C	A	18	54164701	y	y	splicing	MBD2(NM_003927:exon6:c.932-1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.932-1G>T;ENST00000578272:exon6:c.378-1G>T)	.	.	0.999989072007339	0.934
18	51691071	C	G	18	54164701	y	y	splicing	MBD2(NM_003927:exon6:c.932-1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.932-1G>C;ENST00000578272:exon6:c.378-1G>C)	.	.	0.999989072007339	0.934
18	51691071	C	T	18	54164701	y	y	splicing	MBD2(NM_003927:exon6:c.932-1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.932-1G>A;ENST00000578272:exon6:c.378-1G>A)	.	.	0.999989072007339	0.934
18	51691072	T	A	18	54164702	y	y	splicing	MBD2(NM_003927:exon6:c.932-2A>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.932-2A>T;ENST00000578272:exon6:c.378-2A>T)	.	.	0.999988247793601	0.93
18	51691072	T	C	18	54164702	y	y	splicing	MBD2(NM_003927:exon6:c.932-2A>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.932-2A>G;ENST00000578272:exon6:c.378-2A>G)	.	.	0.999988247793601	0.93
18	51691072	T	G	18	54164702	y	y	splicing	MBD2(NM_003927:exon6:c.932-2A>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon6:c.932-2A>C;ENST00000578272:exon6:c.378-2A>C)	.	.	0.999988247793601	0.93
18	51691073	G	A	18	54164703	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0175044075715084	0.044
18	51691073	G	C	18	54164703	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.998147019539509	0.93
18	51691073	G	T	18	54164703	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.969938959746789	0.674
18	51691074	C	A	18	54164704	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	7.27478599282394E-4	0.004
18	51691074	C	G	18	54164704	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.43852311299796E-4	0.014
18	51691074	C	T	18	54164704	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00168233333305585	0.03
18	51691075	A	C	18	54164705	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.812389896715469	0.698
18	51691075	A	G	18	54164705	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00683361403501296	0.07
18	51691075	A	T	18	54164705	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999678657343887	0.938
18	51691076	A	C	18	54164706	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999939449528066	0.984
18	51691076	A	G	18	54164706	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.20271662740539E-4	0.0
18	51691076	A	T	18	54164706	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.158486331552687	0.278
18	51691077	T	A	18	54164707	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.33015012008613E-5	0.002
18	51691077	T	C	18	54164707	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.17989193612556E-5	0.002
18	51691077	T	G	18	54164707	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	9.30064126102509E-5	0.006
18	51691078	G	A	18	54164708	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.00302241591746E-5	0.002
18	51691078	G	C	18	54164708	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.7609736607121E-4	0.04
18	51691078	G	T	18	54164708	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.75466722386237E-4	0.016
18	51691079	A	C	18	54164709	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.85519548254737	0.67
18	51691079	A	G	18	54164709	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00500724095103131	0.1
18	51691079	A	T	18	54164709	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.927621866983471	0.764
18	51691080	G	A	18	54164710	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0247527343628989	0.31
18	51691080	G	C	18	54164710	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0625878287327827	0.262
18	51691080	G	T	18	54164710	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0343952801234028	0.236
18	51691081	A	C	18	54164711	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.965700080852394	0.71
18	51691081	A	G	18	54164711	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0897575826506386	0.126
18	51691081	A	T	18	54164711	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.980129154498191	0.792
18	51691082	A	C	18	54164712	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0675662859516463	0.286
18	51691082	A	G	18	54164712	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.30955959742418E-5	0.024
18	51691082	A	T	18	54164712	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.395245242582788	0.386
18	51692438	G	A	18	54166068	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	7.65991358369193E-4	0.074
18	51692438	G	C	18	54166068	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	7.80120432218185E-4	0.014
18	51692438	G	T	18	54166068	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	9.67949126585801E-4	0.04
18	51692439	A	C	18	54166069	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.20008560306575E-4	0.054
18	51692439	A	G	18	54166069	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.20008560306575E-4	0.038
18	51692439	A	T	18	54166069	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.51675319547586E-4	0.058
18	51692440	T	A	18	54166070	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.38108999998506E-5	0.044
18	51692440	T	C	18	54166070	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.39061369365067E-5	0.052
18	51692440	T	G	18	54166070	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.03560596076979E-4	0.114
18	51692441	A	C	18	54166071	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.17477972637323E-4	0.022
18	51692441	A	G	18	54166071	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.5287226564904E-4	0.058
18	51692441	A	T	18	54166071	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.11358540656278E-4	0.014
18	51692442	A	C	18	54166072	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00333714126703095	0.076
18	51692442	A	G	18	54166072	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0105219578390021	0.218
18	51692442	A	T	18	54166072	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.69741438581238E-4	0.046
18	51692443	T	A	18	54166073	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999965084465883	0.902
18	51692443	T	C	18	54166073	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999915778858454	0.938
18	51692443	T	G	18	54166073	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999960416577249	0.9
18	51692444	A	C	18	54166074	y	y	splicing	MBD2(NM_003927:exon5:c.931+2T>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.931+2T>G;ENST00000578272:exon5:c.377+2T>G)	.	.	0.999986741007567	0.944
18	51692444	A	G	18	54166074	y	y	splicing	MBD2(NM_003927:exon5:c.931+2T>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.931+2T>C;ENST00000578272:exon5:c.377+2T>C)	.	.	0.994707573749878	0.734
18	51692444	A	T	18	54166074	y	y	splicing	MBD2(NM_003927:exon5:c.931+2T>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.931+2T>A;ENST00000578272:exon5:c.377+2T>A)	.	.	0.999986741007567	0.944
18	51692445	C	A	18	54166075	y	y	splicing	MBD2(NM_003927:exon5:c.931+1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.931+1G>T;ENST00000578272:exon5:c.377+1G>T)	.	.	0.999989125585301	0.944
18	51692445	C	G	18	54166075	y	y	splicing	MBD2(NM_003927:exon5:c.931+1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.931+1G>C;ENST00000578272:exon5:c.377+1G>C)	.	.	0.999989125585301	0.944
18	51692445	C	T	18	54166075	y	y	splicing	MBD2(NM_003927:exon5:c.931+1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.931+1G>A;ENST00000578272:exon5:c.377+1G>A)	.	.	0.999989125585301	0.944
18	51692446	C	A	18	54166076	y	y	exonic	MBD2	stopgain SNV	MBD2:NM_003927:exon4:c.G931T:p.G311X;	exonic	ENSG00000134046	stopgain SNV	ENSG00000134046:ENST00000256429:exon4:c.G931T:p.G311X;	0.999993616571674	0.902
18	51692446	C	G	18	54166076	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.G931C:p.G311R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.G931C:p.G311R;	0.999997021997492	1.0
18	51692446	C	T	18	54166076	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.G931A:p.G311R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.G931A:p.G311R;	0.99999581912178	1.0
18	51692447	T	A	18	54166077	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.A930T:p.Q310H;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.A930T:p.Q310H;	0.999947095920573	1.0
18	51692447	T	C	18	54166077	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon4:c.A930G:p.Q310Q;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.A930G:p.Q310Q;	0.999494589391616	0.976
18	51692447	T	G	18	54166077	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.A930C:p.Q310H;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.A930C:p.Q310H;	0.999876286202289	0.998
18	51692448	T	A	18	54166078	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.A929T:p.Q310L;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.A929T:p.Q310L;	0.999250861783027	0.89
18	51692448	T	C	18	54166078	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.A929G:p.Q310R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.A929G:p.Q310R;	0.497635071324722	0.554
18	51692448	T	G	18	54166078	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.A929C:p.Q310P;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.A929C:p.Q310P;	0.920676208175422	0.728
18	51692535	A	C	18	54166165	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.T842G:p.L281R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.T842G:p.L281R;	0.800468072595036	0.614
18	51692535	A	G	18	54166165	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.T842C:p.L281P;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.T842C:p.L281P;	0.563704758202013	0.624
18	51692535	A	T	18	54166165	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.T842A:p.L281H;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.T842A:p.L281H;	0.450234386207612	0.592
18	51692536	G	A	18	54166166	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.C841T:p.L281F;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.C841T:p.L281F;	0.995130158922519	0.924
18	51692536	G	C	18	54166166	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.C841G:p.L281V;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.C841G:p.L281V;	0.966873758342758	0.698
18	51692536	G	T	18	54166166	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon4:c.C841A:p.L281I;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000256429:exon4:c.C841A:p.L281I;	0.971538625989729	0.818
18	51692537	C	A	18	54166167	y	y	splicing	MBD2(NM_003927:exon5:c.841-1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.841-1G>T;ENST00000578272:exon5:c.287-1G>T)	.	.	0.999990361384395	0.938
18	51692537	C	G	18	54166167	y	y	splicing	MBD2(NM_003927:exon5:c.841-1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.841-1G>C;ENST00000578272:exon5:c.287-1G>C)	.	.	0.999990361384395	0.938
18	51692537	C	T	18	54166167	y	y	splicing	MBD2(NM_003927:exon5:c.841-1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.841-1G>A;ENST00000578272:exon5:c.287-1G>A)	.	.	0.999990361384395	0.938
18	51692538	T	A	18	54166168	y	y	splicing	MBD2(NM_003927:exon5:c.841-2A>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.841-2A>T;ENST00000578272:exon5:c.287-2A>T)	.	.	0.999988247793601	0.932
18	51692538	T	C	18	54166168	y	y	splicing	MBD2(NM_003927:exon5:c.841-2A>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.841-2A>G;ENST00000578272:exon5:c.287-2A>G)	.	.	0.999988247793601	0.932
18	51692538	T	G	18	54166168	y	y	splicing	MBD2(NM_003927:exon5:c.841-2A>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon5:c.841-2A>C;ENST00000578272:exon5:c.287-2A>C)	.	.	0.999988247793601	0.932
18	51692539	G	A	18	54166169	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.985202392695779	0.376
18	51692539	G	C	18	54166169	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.99996187021798	0.976
18	51692539	G	T	18	54166169	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999821907399742	0.894
18	51692540	T	A	18	54166170	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0240379863526136	0.192
18	51692540	T	C	18	54166170	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0193743309107795	0.118
18	51692540	T	G	18	54166170	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0138653345752538	0.174
18	51692541	A	C	18	54166171	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.812866967378103	0.658
18	51692541	A	G	18	54166171	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00962347852698339	0.128
18	51692541	A	T	18	54166171	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.978456112127563	0.784
18	51692542	A	C	18	54166172	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.993369946718075	0.834
18	51692542	A	G	18	54166172	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.225897246553604	0.466
18	51692542	A	T	18	54166172	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.989867225257106	0.846
18	51692543	G	A	18	54166173	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.27400482271822E-5	0.008
18	51692543	G	C	18	54166173	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00331713342628471	0.158
18	51692543	G	T	18	54166173	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00606014924444053	0.118
18	51692544	G	A	18	54166174	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00704551746340859	0.086
18	51692544	G	C	18	54166174	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.189516183758251	0.39
18	51692544	G	T	18	54166174	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.197892677341667	0.384
18	51692545	C	A	18	54166175	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.405297085892894	0.544
18	51692545	C	G	18	54166175	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.437044587440053	0.584
18	51692545	C	T	18	54166175	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.447476259180143	0.488
18	51692546	A	C	18	54166176	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.99733070412423	0.904
18	51692546	A	G	18	54166176	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0760665033164891	0.38
18	51692546	A	T	18	54166176	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999945481866287	0.94
18	51692547	A	C	18	54166177	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.997327288502376	0.88
18	51692547	A	G	18	54166177	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.981741201612989	0.61
18	51692547	A	T	18	54166177	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999552857224517	0.958
18	51692548	A	C	18	54166178	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.996964193066564	0.792
18	51692548	A	G	18	54166178	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.51300089716682	0.512
18	51692548	A	T	18	54166178	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.998466768486094	0.884
18	51714076	A	C	18	54187706	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.01589638821372	0.034
18	51714076	A	G	18	54187706	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.01589638821372	0.034
18	51714076	A	T	18	54187706	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0165566160867694	0.036
18	51714077	C	A	18	54187707	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0203041913402469	0.084
18	51714077	C	G	18	54187707	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0203041913402469	0.082
18	51714077	C	T	18	54187707	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0203041913402469	0.088
18	51714078	A	C	18	54187708	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.01589638821372	0.034
18	51714078	A	G	18	54187708	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.01589638821372	0.032
18	51714078	A	T	18	54187708	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0165566160867694	0.036
18	51714079	C	A	18	54187709	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0203041913402469	0.082
18	51714079	C	G	18	54187709	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0203041913402469	0.076
18	51714079	C	T	18	54187709	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0203041913402469	0.088
18	51714080	T	A	18	54187710	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0165566160867694	0.036
18	51714080	T	C	18	54187710	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.01589638821372	0.032
18	51714080	T	G	18	54187710	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.01589638821372	0.032
18	51714081	T	A	18	54187711	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0137900093678223	0.036
18	51714081	T	C	18	54187711	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.032
18	51714081	T	G	18	54187711	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.01589638821372	0.032
18	51714082	A	C	18	54187712	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.286+2T>G)	.	.	0.902669145174277	0.69
18	51714082	A	G	18	54187712	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.286+2T>C)	.	.	0.902669145174277	0.69
18	51714082	A	T	18	54187712	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.286+2T>A)	.	.	0.902669145174277	0.686
18	51714083	C	A	18	54187713	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.286+1G>T)	.	.	0.992474646220614	0.886
18	51714083	C	G	18	54187713	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.286+1G>C)	.	.	0.992474646220614	0.884
18	51714083	C	T	18	54187713	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.286+1G>A)	.	.	0.992474646220614	0.882
18	51714084	A	C	18	54187714	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0165566160867694	0.034
18	51714084	A	G	18	54187714	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0165566160867694	0.034
18	51714084	A	T	18	54187714	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0254532042934836	0.044
18	51714085	T	A	18	54187715	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0254532042934836	0.044
18	51714085	T	C	18	54187715	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0165566160867694	0.034
18	51714085	T	G	18	54187715	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0165566160867694	0.034
18	51714086	G	A	18	54187716	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0299162098908715	0.088
18	51714086	G	C	18	54187716	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0203041913402469	0.094
18	51714086	G	T	18	54187716	n	y	intronic	MBD2	.	.	UTR3	ENSG00000134046	.	.	0.0343998936554931	0.09
18	51714206	A	C	18	54187836	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon3:c.T164G:p.V55G;	0.00427833010842646	0.026
18	51714206	A	G	18	54187836	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon3:c.T164C:p.V55A;	0.00618956519279781	0.02
18	51714206	A	T	18	54187836	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon3:c.T164A:p.V55E;	0.00618956519279781	0.02
18	51714207	C	A	18	54187837	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon3:c.G163T:p.V55L;	0.0203041913402469	0.082
18	51714207	C	G	18	54187837	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon3:c.G163C:p.V55L;	0.0181969847446306	0.074
18	51714207	C	T	18	54187837	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon3:c.G163A:p.V55M;	0.0123696162114533	0.072
18	51714208	C	A	18	54187838	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.163-1G>T)	.	.	0.992474646220614	0.882
18	51714208	C	G	18	54187838	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.163-1G>C)	.	.	0.983394749551851	0.87
18	51714208	C	T	18	54187838	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.163-1G>A)	.	.	0.992474646220614	0.884
18	51714209	T	A	18	54187839	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.163-2A>T)	.	.	0.902669145174277	0.686
18	51714209	T	C	18	54187839	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.163-2A>G)	.	.	0.887588089604439	0.68
18	51714209	T	G	18	54187839	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000578272:exon4:c.163-2A>C)	.	.	0.887588089604439	0.68
18	51714210	G	A	18	54187840	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0123696162114533	0.072
18	51714210	G	C	18	54187840	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00856653316777073	0.072
18	51714210	G	T	18	54187840	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0123696162114533	0.072
18	51714211	A	C	18	54187841	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.03
18	51714211	A	G	18	54187841	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.032
18	51714211	A	T	18	54187841	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.038
18	51714212	A	C	18	54187842	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.032
18	51714212	A	G	18	54187842	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.042
18	51714212	A	T	18	54187842	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.036
18	51714213	G	A	18	54187843	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0181969847446306	0.076
18	51714213	G	C	18	54187843	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0181969847446306	0.074
18	51714213	G	T	18	54187843	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0181969847446306	0.08
18	51714214	A	C	18	54187844	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.042
18	51714214	A	G	18	54187844	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.03
18	51714214	A	T	18	54187844	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00930958344034742	0.036
18	51714215	G	A	18	54187845	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0181969847446306	0.074
18	51714215	G	C	18	54187845	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0181969847446306	0.074
18	51714215	G	T	18	54187845	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0181969847446306	0.08
18	51714216	G	A	18	54187846	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.992474646220614	0.872
18	51714216	G	C	18	54187846	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.992474646220614	0.882
18	51714216	G	T	18	54187846	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.992474646220614	0.878
18	51714217	A	C	18	54187847	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.672
18	51714217	A	G	18	54187847	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.672
18	51714217	A	T	18	54187847	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.642
18	51714218	A	C	18	54187848	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.674
18	51714218	A	G	18	54187848	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.674
18	51714218	A	T	18	54187848	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.642
18	51714219	A	C	18	54187849	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.672
18	51714219	A	G	18	54187849	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.672
18	51714219	A	T	18	54187849	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.902669145174277	0.656
18	51715236	A	C	18	54188866	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.08291490468438E-5	0.004
18	51715236	A	G	18	54188866	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.80109675654916E-5	0.002
18	51715236	A	T	18	54188866	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.08291490468438E-5	0.002
18	51715237	T	A	18	54188867	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.11250391840953E-5	0.002
18	51715237	T	C	18	54188867	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.48372512049695E-5	0.002
18	51715237	T	G	18	54188867	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.08291490468438E-5	0.004
18	51715238	C	A	18	54188868	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.5685724464401E-5	0.0
18	51715238	C	G	18	54188868	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.69124035195563E-5	0.008
18	51715238	C	T	18	54188868	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	8.07034042734991E-5	0.0
18	51715239	C	A	18	54188869	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.958880365162148	0.642
18	51715239	C	G	18	54188869	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.946486435683467	0.6
18	51715239	C	T	18	54188869	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.938508052955853	0.656
18	51715240	T	A	18	54188870	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.384595446398542	0.516
18	51715240	T	C	18	54188870	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.887178383298761	0.528
18	51715240	T	G	18	54188870	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.497188854366232	0.63
18	51715241	T	A	18	54188871	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.944297374777946	0.628
18	51715241	T	C	18	54188871	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00775268573140345	0.076
18	51715241	T	G	18	54188871	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.978445623828438	0.716
18	51715242	A	C	18	54188872	y	y	splicing	MBD2(NM_003927:exon4:c.840+2T>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.840+2T>G;ENST00000578272:exon3:c.162+2T>G)	.	.	0.999988247793601	0.926
18	51715242	A	G	18	54188872	y	y	splicing	MBD2(NM_003927:exon4:c.840+2T>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.840+2T>C;ENST00000578272:exon3:c.162+2T>C)	.	.	0.986973409415639	0.624
18	51715242	A	T	18	54188872	y	y	splicing	MBD2(NM_003927:exon4:c.840+2T>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.840+2T>A;ENST00000578272:exon3:c.162+2T>A)	.	.	0.999988247793601	0.928
18	51715243	C	A	18	54188873	y	y	splicing	MBD2(NM_003927:exon4:c.840+1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.840+1G>T;ENST00000578272:exon3:c.162+1G>T)	.	.	0.999986675681007	0.934
18	51715243	C	G	18	54188873	y	y	splicing	MBD2(NM_003927:exon4:c.840+1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.840+1G>C;ENST00000578272:exon3:c.162+1G>C)	.	.	0.999986675681007	0.934
18	51715243	C	T	18	54188873	y	y	splicing	MBD2(NM_003927:exon4:c.840+1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.840+1G>A;ENST00000578272:exon3:c.162+1G>A)	.	.	0.999986675681007	0.934
18	51715244	C	A	18	54188874	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.G840T:p.Q280H;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G162T:p.Q54H;ENSG00000134046:ENST00000256429:exon3:c.G840T:p.Q280H;	0.985111103951677	0.856
18	51715244	C	G	18	54188874	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.G840C:p.Q280H;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G162C:p.Q54H;ENSG00000134046:ENST00000256429:exon3:c.G840C:p.Q280H;	0.994209166616292	0.79
18	51715244	C	T	18	54188874	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon3:c.G840A:p.Q280Q;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G162A:p.Q54Q;ENSG00000134046:ENST00000256429:exon3:c.G840A:p.Q280Q;	0.955098340054292	0.916
18	51715245	T	A	18	54188875	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.A839T:p.Q280L;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.A161T:p.Q54L;ENSG00000134046:ENST00000256429:exon3:c.A839T:p.Q280L;	0.126455547053441	0.42
18	51715245	T	C	18	54188875	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.A839G:p.Q280R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.A161G:p.Q54R;ENSG00000134046:ENST00000256429:exon3:c.A839G:p.Q280R;	0.128628383594387	0.354
18	51715245	T	G	18	54188875	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.A839C:p.Q280P;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.A161C:p.Q54P;ENSG00000134046:ENST00000256429:exon3:c.A839C:p.Q280P;	0.0978084355746779	0.366
18	51715246	G	A	18	54188876	y	y	exonic	MBD2	stopgain SNV	MBD2:NM_003927:exon3:c.C838T:p.Q280X;	exonic	ENSG00000134046	stopgain SNV	ENSG00000134046:ENST00000578272:exon2:c.C160T:p.Q54X;ENSG00000134046:ENST00000256429:exon3:c.C838T:p.Q280X;	0.865774253170483	0.488
18	51715246	G	C	18	54188876	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.C838G:p.Q280E;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.C160G:p.Q54E;ENSG00000134046:ENST00000256429:exon3:c.C838G:p.Q280E;	0.00231523889691876	0.108
18	51715246	G	T	18	54188876	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.C838A:p.Q280K;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.C160A:p.Q54K;ENSG00000134046:ENST00000256429:exon3:c.C838A:p.Q280K;	0.00500809070643672	0.156
18	51715380	C	A	18	54189010	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.G704T:p.G235V;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G26T:p.G9V;ENSG00000134046:ENST00000256429:exon3:c.G704T:p.G235V;	0.00791369834441242	0.084
18	51715380	C	G	18	54189010	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.G704C:p.G235A;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G26C:p.G9A;ENSG00000134046:ENST00000256429:exon3:c.G704C:p.G235A;	0.0034823052694963	0.116
18	51715380	C	T	18	54189010	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.G704A:p.G235D;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G26A:p.G9D;ENSG00000134046:ENST00000256429:exon3:c.G704A:p.G235D;	0.0470984406285981	0.15
18	51715381	C	A	18	54189011	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.G703T:p.G235C;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G25T:p.G9C;ENSG00000134046:ENST00000256429:exon3:c.G703T:p.G235C;	0.938687453529321	0.498
18	51715381	C	G	18	54189011	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.G703C:p.G235R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G25C:p.G9R;ENSG00000134046:ENST00000256429:exon3:c.G703C:p.G235R;	0.964802047737573	0.7
18	51715381	C	T	18	54189011	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon3:c.G703A:p.G235S;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000578272:exon2:c.G25A:p.G9S;ENSG00000134046:ENST00000256429:exon3:c.G703A:p.G235S;	0.952572640047554	0.676
18	51715382	C	A	18	54189012	y	y	splicing	MBD2(NM_003927:exon4:c.703-1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.703-1G>T;ENST00000578272:exon3:c.25-1G>T)	.	.	0.999989072007339	0.922
18	51715382	C	G	18	54189012	y	y	splicing	MBD2(NM_003927:exon4:c.703-1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.703-1G>C;ENST00000578272:exon3:c.25-1G>C)	.	.	0.999980428708689	0.924
18	51715382	C	T	18	54189012	y	y	splicing	MBD2(NM_003927:exon4:c.703-1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.703-1G>A;ENST00000578272:exon3:c.25-1G>A)	.	.	0.999989072007339	0.922
18	51715383	T	A	18	54189013	y	y	splicing	MBD2(NM_003927:exon4:c.703-2A>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.703-2A>T;ENST00000578272:exon3:c.25-2A>T)	.	.	0.999978952611685	0.918
18	51715383	T	C	18	54189013	y	y	splicing	MBD2(NM_003927:exon4:c.703-2A>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.703-2A>G;ENST00000578272:exon3:c.25-2A>G)	.	.	0.99994568797423	0.916
18	51715383	T	G	18	54189013	y	y	splicing	MBD2(NM_003927:exon4:c.703-2A>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon4:c.703-2A>C;ENST00000578272:exon3:c.25-2A>C)	.	.	0.99994568797423	0.916
18	51715384	G	A	18	54189014	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00834204170128831	0.138
18	51715384	G	C	18	54189014	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999631847632199	0.886
18	51715384	G	T	18	54189014	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.98026692078646	0.688
18	51715385	T	A	18	54189015	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.49943392334544E-4	0.008
18	51715385	T	C	18	54189015	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.60311254863589E-4	0.026
18	51715385	T	G	18	54189015	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.50964966981022E-4	0.014
18	51715386	G	A	18	54189016	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.11894474509133E-5	0.012
18	51715386	G	C	18	54189016	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00216972398597265	0.092
18	51715386	G	T	18	54189016	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.17381736149474E-4	0.07
18	51715387	A	C	18	54189017	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0589945633362632	0.456
18	51715387	A	G	18	54189017	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.03399010180675E-4	0.104
18	51715387	A	T	18	54189017	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00424086249394323	0.336
18	51715388	A	C	18	54189018	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999850040442251	0.79
18	51715388	A	G	18	54189018	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	9.38428605010023E-5	0.078
18	51715388	A	T	18	54189018	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.771976718424548	0.56
18	51715389	T	A	18	54189019	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.5098808559698E-5	0.026
18	51715389	T	C	18	54189019	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.1419131245718E-5	0.008
18	51715389	T	G	18	54189019	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.76790280796072E-5	0.024
18	51715390	A	C	18	54189020	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.998781171532316	0.684
18	51715390	A	G	18	54189020	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	8.61803911914535E-5	0.056
18	51715390	A	T	18	54189020	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0167174447589804	0.162
18	51715391	T	A	18	54189021	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.04441833424559E-4	0.094
18	51715391	T	C	18	54189021	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	7.77291238181524E-5	0.108
18	51715391	T	G	18	54189021	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.04441833424559E-4	0.086
18	51715392	A	C	18	54189022	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.479149103800795	0.49
18	51715392	A	G	18	54189022	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.036344467253917	0.318
18	51715392	A	T	18	54189022	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.629524449953002	0.51
18	51715393	A	C	18	54189023	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0314287736543931	0.332
18	51715393	A	G	18	54189023	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.65945205281921E-5	0.016
18	51715393	A	T	18	54189023	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00960667331810257	0.272
18	51729471	A	C	18	54203101	y	n	exonic	MBD2	nonsynonymous SNV	MBD2:NM_015832:exon3:c.T704G:p.L235R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon3:c.T704G:p.L235R;	9.64454637883965E-5	0.002
18	51729471	A	G	18	54203101	y	n	exonic	MBD2	nonsynonymous SNV	MBD2:NM_015832:exon3:c.T704C:p.L235P;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon3:c.T704C:p.L235P;	7.76074896990115E-5	0.002
18	51729471	A	T	18	54203101	y	n	exonic	MBD2	nonsynonymous SNV	MBD2:NM_015832:exon3:c.T704A:p.L235Q;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon3:c.T704A:p.L235Q;	9.64454637883965E-5	0.002
18	51729472	G	A	18	54203102	y	n	exonic	MBD2	synonymous SNV	MBD2:NM_015832:exon3:c.C703T:p.L235L;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000583046:exon3:c.C703T:p.L235L;	0.0357573328857635	0.08
18	51729472	G	C	18	54203102	y	n	exonic	MBD2	nonsynonymous SNV	MBD2:NM_015832:exon3:c.C703G:p.L235V;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon3:c.C703G:p.L235V;	0.0861748975146968	0.16
18	51729472	G	T	18	54203102	y	n	exonic	MBD2	nonsynonymous SNV	MBD2:NM_015832:exon3:c.C703A:p.L235M;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon3:c.C703A:p.L235M;	0.793118250434253	0.614
18	51729473	C	A	18	54203103	y	n	splicing	MBD2(NM_015832:exon4:c.703-1G>T)	.	.	exonic;splicing	ENSG00000134046;ENSG00000134046(ENST00000583046:exon4:c.703-1G>T)	stoploss SNV	ENSG00000134046:ENST00000398398:exon3:c.G726T:p.X242Y;	0.993733916693694	0.874
18	51729473	C	G	18	54203103	y	n	splicing	MBD2(NM_015832:exon4:c.703-1G>C)	.	.	exonic;splicing	ENSG00000134046;ENSG00000134046(ENST00000583046:exon4:c.703-1G>C)	stoploss SNV	ENSG00000134046:ENST00000398398:exon3:c.G726C:p.X242Y;	0.993733916693694	0.868
18	51729473	C	T	18	54203103	y	n	splicing	MBD2(NM_015832:exon4:c.703-1G>A)	.	.	exonic;splicing	ENSG00000134046;ENSG00000134046(ENST00000583046:exon4:c.703-1G>A)	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.G726A:p.X242X;	0.993733916693694	0.87
18	51729474	T	A	18	54203104	y	n	splicing	MBD2(NM_015832:exon4:c.703-2A>T)	.	.	exonic;splicing	ENSG00000134046;ENSG00000134046(ENST00000583046:exon4:c.703-2A>T)	stoploss SNV	ENSG00000134046:ENST00000398398:exon3:c.A725T:p.X242L;	0.92961721136914	0.78
18	51729474	T	C	18	54203104	y	n	splicing	MBD2(NM_015832:exon4:c.703-2A>G)	.	.	exonic;splicing	ENSG00000134046;ENSG00000134046(ENST00000583046:exon4:c.703-2A>G)	stoploss SNV	ENSG00000134046:ENST00000398398:exon3:c.A725G:p.X242W;	0.92961721136914	0.776
18	51729474	T	G	18	54203104	y	n	splicing	MBD2(NM_015832:exon4:c.703-2A>C)	.	.	exonic;splicing	ENSG00000134046;ENSG00000134046(ENST00000583046:exon4:c.703-2A>C)	stoploss SNV	ENSG00000134046:ENST00000398398:exon3:c.A725C:p.X242S;	0.92961721136914	0.776
18	51729475	A	C	18	54203105	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	stoploss SNV	ENSG00000134046:ENST00000398398:exon3:c.T724G:p.X242E;	1.82254846753964E-4	0.002
18	51729475	A	G	18	54203105	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	stoploss SNV	ENSG00000134046:ENST00000398398:exon3:c.T724C:p.X242Q;	1.82254846753964E-4	0.002
18	51729475	A	T	18	54203105	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	stoploss SNV	ENSG00000134046:ENST00000398398:exon3:c.T724A:p.X242K;	1.64857229448119E-4	0.002
18	51729476	G	A	18	54203106	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C723T:p.L241L;	3.10587245305535E-4	0.01
18	51729476	G	C	18	54203106	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C723G:p.L241L;	3.1385132254292E-4	0.022
18	51729476	G	T	18	54203106	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C723A:p.L241L;	3.10587245305535E-4	0.01
18	51729477	A	C	18	54203107	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T722G:p.L241R;	0.00355778535479025	0.012
18	51729477	A	G	18	54203107	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T722C:p.L241P;	0.00355778535479025	0.008
18	51729477	A	T	18	54203107	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T722A:p.L241H;	0.00525596247628132	0.008
18	51729478	G	A	18	54203108	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C721T:p.L241F;	0.0243156145864903	0.09
18	51729478	G	C	18	54203108	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C721G:p.L241V;	0.0218013593461534	0.078
18	51729478	G	T	18	54203108	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C721A:p.L241I;	0.0243156145864903	0.112
18	51729479	C	A	18	54203109	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.G720T:p.L240L;	0.0410793819238282	0.09
18	51729479	C	G	18	54203109	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.G720C:p.L240L;	0.0243156145864903	0.112
18	51729479	C	T	18	54203109	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.G720A:p.L240L;	0.0357573328857635	0.094
18	51729480	A	C	18	54203110	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T719G:p.L240R;	6.27477746119029E-5	0.0
18	51729480	A	G	18	54203110	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T719C:p.L240P;	2.33815804894828E-5	0.0
18	51729480	A	T	18	54203110	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T719A:p.L240Q;	6.27477746119029E-5	0.0
18	51729481	G	A	18	54203111	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C718T:p.L240L;	3.93972165730067E-5	0.0
18	51729481	G	C	18	54203111	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C718G:p.L240V;	3.93972165730067E-5	0.0
18	51729481	G	T	18	54203111	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.C718A:p.L240M;	3.93972165730067E-5	0.0
18	51729482	A	C	18	54203112	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T717G:p.F239L;	1.51591174045998E-4	0.008
18	51729482	A	G	18	54203112	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T717C:p.F239F;	2.455930068921E-5	0.002
18	51729482	A	T	18	54203112	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T717A:p.F239L;	1.51591174045998E-4	0.004
18	51729483	A	C	18	54203113	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T716G:p.F239C;	4.07403771358457E-5	0.01
18	51729483	A	G	18	54203113	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T716C:p.F239S;	3.37565206783177E-5	0.01
18	51729483	A	T	18	54203113	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T716A:p.F239Y;	8.40597272520937E-5	0.012
18	51729484	A	C	18	54203114	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T715G:p.F239V;	6.5908222467397E-5	0.002
18	51729484	A	G	18	54203114	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T715C:p.F239L;	1.51591174045998E-4	0.008
18	51729484	A	T	18	54203114	y	n	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T715A:p.F239I;	1.38175242962214E-4	0.008
18	51729495	A	C	18	54203125	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T704G:p.F235C;	6.00237884990209E-5	0.036
18	51729495	A	G	18	54203125	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T704C:p.F235S;	1.02146862845666E-4	0.038
18	51729495	A	T	18	54203125	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T704A:p.F235Y;	9.75133889814531E-5	0.03
18	51729496	A	C	18	54203126	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T703G:p.F235V;	1.51591174045998E-4	0.008
18	51729496	A	G	18	54203126	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T703C:p.F235L;	1.46226529156369E-4	0.002
18	51729496	A	T	18	54203126	n	y	intronic	MBD2	.	.	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000398398:exon3:c.T703A:p.F235I;	1.46226529156369E-4	0.004
18	51729497	C	A	18	54203127	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000398398:exon4:c.703-1G>T)	.	.	0.0674502453221801	0.254
18	51729497	C	G	18	54203127	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000398398:exon4:c.703-1G>C)	.	.	0.0224085503700386	0.278
18	51729497	C	T	18	54203127	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000398398:exon4:c.703-1G>A)	.	.	0.0674502453221801	0.262
18	51729498	T	A	18	54203128	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000398398:exon4:c.703-2A>T)	.	.	0.78596853483203	0.736
18	51729498	T	C	18	54203128	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000398398:exon4:c.703-2A>G)	.	.	0.705030108428	0.762
18	51729498	T	G	18	54203128	n	y	intronic	MBD2	.	.	splicing	ENSG00000134046(ENST00000398398:exon4:c.703-2A>C)	.	.	0.705030108428	0.734
18	51729499	G	A	18	54203129	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.7399236214009E-5	0.012
18	51729499	G	C	18	54203129	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.7399236214009E-5	0.012
18	51729499	G	T	18	54203129	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.7399236214009E-5	0.012
18	51729500	A	C	18	54203130	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.39452421646243E-4	0.048
18	51729500	A	G	18	54203130	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.39452421646243E-4	0.048
18	51729500	A	T	18	54203130	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.30137189341075E-4	0.04
18	51729501	A	C	18	54203131	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00445622272127568	0.034
18	51729501	A	G	18	54203131	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00445622272127568	0.028
18	51729501	A	T	18	54203131	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00763559792386277	0.022
18	51729502	G	A	18	54203132	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0196241591524656	0.058
18	51729502	G	C	18	54203132	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0175862606840281	0.054
18	51729502	G	T	18	54203132	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0196241591524656	0.054
18	51729503	A	C	18	54203133	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00445622272127568	0.024
18	51729503	A	G	18	54203133	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00445622272127568	0.024
18	51729503	A	T	18	54203133	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00763559792386277	0.022
18	51729504	G	A	18	54203134	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00236016390716474	0.03
18	51729504	G	C	18	54203134	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00159610464863394	0.026
18	51729504	G	T	18	54203134	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00159610464863394	0.064
18	51729505	A	C	18	54203135	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.803913475204598	0.75
18	51729505	A	G	18	54203135	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.803913475204598	0.75
18	51729505	A	T	18	54203135	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.828045442883565	0.76
18	51729506	T	A	18	54203136	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.50353606863553E-4	0.026
18	51729506	T	C	18	54203136	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.65164625162413E-4	0.038
18	51729506	T	G	18	54203136	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.65164625162413E-4	0.034
18	51729507	G	A	18	54203137	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0674502453221801	0.256
18	51729507	G	C	18	54203137	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0224085503700386	0.234
18	51729507	G	T	18	54203137	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0224085503700386	0.282
18	51729508	A	C	18	54203138	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0069180409540431	0.058
18	51729508	A	G	18	54203138	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0069180409540431	0.058
18	51729508	A	T	18	54203138	n	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0069180409540431	0.064
18	51731360	T	A	18	54204990	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.68427711171161E-4	0.006
18	51731360	T	C	18	54204990	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.3424432049787E-4	0.026
18	51731360	T	G	18	54204990	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.00221441716257E-4	0.002
18	51731361	A	C	18	54204991	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	7.46694876865642E-5	0.0
18	51731361	A	G	18	54204991	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.5993700912939E-4	0.002
18	51731361	A	T	18	54204991	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.74798456771856E-4	0.056
18	51731362	A	C	18	54204992	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.953118409871871	0.806
18	51731362	A	G	18	54204992	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.833309286566677	0.78
18	51731362	A	T	18	54204992	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.983413892487945	0.71
18	51731363	C	A	18	54204993	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999971829791999	0.974
18	51731363	C	G	18	54204993	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999981319657991	0.996
18	51731363	C	T	18	54204993	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999936887480762	1.0
18	51731364	C	A	18	54204994	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00199024137412013	0.222
18	51731364	C	G	18	54204994	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00179303628415231	0.316
18	51731364	C	T	18	54204994	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.51216750844502E-4	0.054
18	51731365	A	C	18	54204995	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.51229118175187E-4	0.276
18	51731365	A	G	18	54204995	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0011748044141101	0.1
18	51731365	A	T	18	54204995	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.13607989102261E-4	0.074
18	51731366	A	C	18	54204996	y	y	splicing	MBD2(NM_003927:exon3:c.702+2T>G;NM_015832:exon3:c.702+2T>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.702+2T>G;ENST00000578272:exon2:c.24+2T>G;ENST00000398398:exon3:c.702+2T>G;ENST00000583046:exon3:c.702+2T>G)	.	.	0.999988247793601	0.954
18	51731366	A	G	18	54204996	y	y	splicing	MBD2(NM_003927:exon3:c.702+2T>C;NM_015832:exon3:c.702+2T>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.702+2T>C;ENST00000578272:exon2:c.24+2T>C;ENST00000398398:exon3:c.702+2T>C;ENST00000583046:exon3:c.702+2T>C)	.	.	0.996218475494576	0.712
18	51731366	A	T	18	54204996	y	y	splicing	MBD2(NM_003927:exon3:c.702+2T>A;NM_015832:exon3:c.702+2T>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.702+2T>A;ENST00000578272:exon2:c.24+2T>A;ENST00000398398:exon3:c.702+2T>A;ENST00000583046:exon3:c.702+2T>A)	.	.	0.999988247793601	0.954
18	51731367	C	A	18	54204997	y	y	splicing	MBD2(NM_003927:exon3:c.702+1G>T;NM_015832:exon3:c.702+1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.702+1G>T;ENST00000578272:exon2:c.24+1G>T;ENST00000398398:exon3:c.702+1G>T;ENST00000583046:exon3:c.702+1G>T)	.	.	0.999990361384395	0.952
18	51731367	C	G	18	54204997	y	y	splicing	MBD2(NM_003927:exon3:c.702+1G>C;NM_015832:exon3:c.702+1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.702+1G>C;ENST00000578272:exon2:c.24+1G>C;ENST00000398398:exon3:c.702+1G>C;ENST00000583046:exon3:c.702+1G>C)	.	.	0.999990361384395	0.952
18	51731367	C	T	18	54204997	y	y	splicing	MBD2(NM_003927:exon3:c.702+1G>A;NM_015832:exon3:c.702+1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.702+1G>A;ENST00000578272:exon2:c.24+1G>A;ENST00000398398:exon3:c.702+1G>A;ENST00000583046:exon3:c.702+1G>A)	.	.	0.999990361384395	0.952
18	51731368	C	A	18	54204998	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.G702T:p.K234N;MBD2:NM_015832:exon2:c.G702T:p.K234N;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.G702T:p.K234N;ENSG00000134046:ENST00000578272:exon1:c.G24T:p.K8N;ENSG00000134046:ENST00000256429:exon2:c.G702T:p.K234N;ENSG00000134046:ENST00000398398:exon2:c.G702T:p.K234N;	0.999990139456338	1.0
18	51731368	C	G	18	54204998	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.G702C:p.K234N;MBD2:NM_015832:exon2:c.G702C:p.K234N;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.G702C:p.K234N;ENSG00000134046:ENST00000578272:exon1:c.G24C:p.K8N;ENSG00000134046:ENST00000256429:exon2:c.G702C:p.K234N;ENSG00000134046:ENST00000398398:exon2:c.G702C:p.K234N;	0.999995250606428	1.0
18	51731368	C	T	18	54204998	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon2:c.G702A:p.K234K;MBD2:NM_015832:exon2:c.G702A:p.K234K;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.G702A:p.K234K;ENSG00000134046:ENST00000578272:exon1:c.G24A:p.K8K;ENSG00000134046:ENST00000256429:exon2:c.G702A:p.K234K;ENSG00000134046:ENST00000398398:exon2:c.G702A:p.K234K;	0.999986972269582	1.0
18	51731369	T	A	18	54204999	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.A701T:p.K234M;MBD2:NM_015832:exon2:c.A701T:p.K234M;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.A701T:p.K234M;ENSG00000134046:ENST00000578272:exon1:c.A23T:p.K8M;ENSG00000134046:ENST00000256429:exon2:c.A701T:p.K234M;ENSG00000134046:ENST00000398398:exon2:c.A701T:p.K234M;	0.999643782337684	0.996
18	51731369	T	C	18	54204999	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.A701G:p.K234R;MBD2:NM_015832:exon2:c.A701G:p.K234R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.A701G:p.K234R;ENSG00000134046:ENST00000578272:exon1:c.A23G:p.K8R;ENSG00000134046:ENST00000256429:exon2:c.A701G:p.K234R;ENSG00000134046:ENST00000398398:exon2:c.A701G:p.K234R;	0.999821106824718	0.986
18	51731369	T	G	18	54204999	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.A701C:p.K234T;MBD2:NM_015832:exon2:c.A701C:p.K234T;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.A701C:p.K234T;ENSG00000134046:ENST00000578272:exon1:c.A23C:p.K8T;ENSG00000134046:ENST00000256429:exon2:c.A701C:p.K234T;ENSG00000134046:ENST00000398398:exon2:c.A701C:p.K234T;	0.999498004306422	0.984
18	51731370	T	A	18	54205000	y	y	exonic	MBD2	stopgain SNV	MBD2:NM_003927:exon2:c.A700T:p.K234X;MBD2:NM_015832:exon2:c.A700T:p.K234X;	exonic	ENSG00000134046	stopgain SNV	ENSG00000134046:ENST00000583046:exon2:c.A700T:p.K234X;ENSG00000134046:ENST00000578272:exon1:c.A22T:p.K8X;ENSG00000134046:ENST00000256429:exon2:c.A700T:p.K234X;ENSG00000134046:ENST00000398398:exon2:c.A700T:p.K234X;	0.998345557967459	0.83
18	51731370	T	C	18	54205000	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.A700G:p.K234E;MBD2:NM_015832:exon2:c.A700G:p.K234E;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.A700G:p.K234E;ENSG00000134046:ENST00000578272:exon1:c.A22G:p.K8E;ENSG00000134046:ENST00000256429:exon2:c.A700G:p.K234E;ENSG00000134046:ENST00000398398:exon2:c.A700G:p.K234E;	0.69908264935697	0.514
18	51731370	T	G	18	54205000	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.A700C:p.K234Q;MBD2:NM_015832:exon2:c.A700C:p.K234Q;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.A700C:p.K234Q;ENSG00000134046:ENST00000578272:exon1:c.A22C:p.K8Q;ENSG00000134046:ENST00000256429:exon2:c.A700C:p.K234Q;ENSG00000134046:ENST00000398398:exon2:c.A700C:p.K234Q;	0.376231127332311	0.48
18	51731526	G	A	18	54205156	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.C544T:p.P182S;MBD2:NM_015832:exon2:c.C544T:p.P182S;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.C544T:p.P182S;ENSG00000134046:ENST00000256429:exon2:c.C544T:p.P182S;ENSG00000134046:ENST00000398398:exon2:c.C544T:p.P182S;	0.656660094544551	0.566
18	51731526	G	C	18	54205156	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.C544G:p.P182A;MBD2:NM_015832:exon2:c.C544G:p.P182A;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.C544G:p.P182A;ENSG00000134046:ENST00000256429:exon2:c.C544G:p.P182A;ENSG00000134046:ENST00000398398:exon2:c.C544G:p.P182A;	0.339377653475425	0.378
18	51731526	G	T	18	54205156	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.C544A:p.P182T;MBD2:NM_015832:exon2:c.C544A:p.P182T;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.C544A:p.P182T;ENSG00000134046:ENST00000256429:exon2:c.C544A:p.P182T;ENSG00000134046:ENST00000398398:exon2:c.C544A:p.P182T;	0.674588494229225	0.362
18	51731527	A	C	18	54205157	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.T543G:p.S181R;MBD2:NM_015832:exon2:c.T543G:p.S181R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.T543G:p.S181R;ENSG00000134046:ENST00000256429:exon2:c.T543G:p.S181R;ENSG00000134046:ENST00000398398:exon2:c.T543G:p.S181R;	0.00211101997999203	0.054
18	51731527	A	G	18	54205157	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon2:c.T543C:p.S181S;MBD2:NM_015832:exon2:c.T543C:p.S181S;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.T543C:p.S181S;ENSG00000134046:ENST00000256429:exon2:c.T543C:p.S181S;ENSG00000134046:ENST00000398398:exon2:c.T543C:p.S181S;	0.00767052828705956	0.026
18	51731527	A	T	18	54205157	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon2:c.T543A:p.S181R;MBD2:NM_015832:exon2:c.T543A:p.S181R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon2:c.T543A:p.S181R;ENSG00000134046:ENST00000256429:exon2:c.T543A:p.S181R;ENSG00000134046:ENST00000398398:exon2:c.T543A:p.S181R;	0.00174291790180525	0.016
18	51731528	C	A	18	54205158	y	y	splicing	MBD2(NM_003927:exon3:c.543-1G>T;NM_015832:exon3:c.543-1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.543-1G>T;ENST00000398398:exon3:c.543-1G>T;ENST00000583046:exon3:c.543-1G>T)	.	.	0.999985532734767	0.932
18	51731528	C	G	18	54205158	y	y	splicing	MBD2(NM_003927:exon3:c.543-1G>C;NM_015832:exon3:c.543-1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.543-1G>C;ENST00000398398:exon3:c.543-1G>C;ENST00000583046:exon3:c.543-1G>C)	.	.	0.999985532734767	0.936
18	51731528	C	T	18	54205158	y	y	splicing	MBD2(NM_003927:exon3:c.543-1G>A;NM_015832:exon3:c.543-1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.543-1G>A;ENST00000398398:exon3:c.543-1G>A;ENST00000583046:exon3:c.543-1G>A)	.	.	0.999985532734767	0.934
18	51731529	T	A	18	54205159	y	y	splicing	MBD2(NM_003927:exon3:c.543-2A>T;NM_015832:exon3:c.543-2A>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.543-2A>T;ENST00000398398:exon3:c.543-2A>T;ENST00000583046:exon3:c.543-2A>T)	.	.	0.99994568797423	0.92
18	51731529	T	C	18	54205159	y	y	splicing	MBD2(NM_003927:exon3:c.543-2A>G;NM_015832:exon3:c.543-2A>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.543-2A>G;ENST00000398398:exon3:c.543-2A>G;ENST00000583046:exon3:c.543-2A>G)	.	.	0.99994568797423	0.94
18	51731529	T	G	18	54205159	y	y	splicing	MBD2(NM_003927:exon3:c.543-2A>C;NM_015832:exon3:c.543-2A>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon3:c.543-2A>C;ENST00000398398:exon3:c.543-2A>C;ENST00000583046:exon3:c.543-2A>C)	.	.	0.99994568797423	0.94
18	51731530	A	C	18	54205160	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.908192043650329	0.702
18	51731530	A	G	18	54205160	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.50018700825666E-5	0.002
18	51731530	A	T	18	54205160	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00736426077278039	0.188
18	51731531	G	A	18	54205161	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.52276608712576E-5	0.0
18	51731531	G	C	18	54205161	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.55280419337304E-5	0.0
18	51731531	G	T	18	54205161	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.15896630113242E-5	0.0
18	51731532	A	C	18	54205162	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.116340868105005	0.492
18	51731532	A	G	18	54205162	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00137484033039781	0.052
18	51731532	A	T	18	54205162	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.100466563319293	0.42
18	51731533	A	C	18	54205163	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.150632780593807	0.252
18	51731533	A	G	18	54205163	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.35228165243986E-4	0.016
18	51731533	A	T	18	54205163	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.105385097487153	0.262
18	51731534	G	A	18	54205164	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	2.50498329501642E-5	0.0
18	51731534	G	C	18	54205164	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.70336694519757E-4	0.058
18	51731534	G	T	18	54205164	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	4.10013968767537E-4	0.02
18	51731535	A	C	18	54205165	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00775502583081723	0.184
18	51731535	A	G	18	54205165	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.66373684296652E-4	0.018
18	51731535	A	T	18	54205165	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0240905038744772	0.176
18	51731536	A	C	18	54205166	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.90983823031122E-4	0.2
18	51731536	A	G	18	54205166	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.74849304656345E-4	0.038
18	51731536	A	T	18	54205166	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00264342773128967	0.138
18	51731537	A	C	18	54205167	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0414660379493176	0.36
18	51731537	A	G	18	54205167	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.29857218639387E-4	0.028
18	51731537	A	T	18	54205167	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.0789090765450942	0.374
18	51731538	G	A	18	54205168	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.64298682654959E-5	0.0
18	51731538	G	C	18	54205168	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.992092299260639	0.98
18	51731538	G	T	18	54205168	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.36094506282727E-4	0.046
18	51731539	T	A	18	54205169	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.6027798390874E-5	0.0
18	51731539	T	C	18	54205169	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.39600042847858E-5	0.018
18	51731539	T	G	18	54205169	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	9.71848864181303E-6	0.008
18	51750380	G	A	18	54224010	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.56309815020122E-4	0.002
18	51750380	G	C	18	54224010	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	6.44200251934398E-4	0.036
18	51750380	G	T	18	54224010	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.00949261278636E-4	0.04
18	51750381	G	A	18	54224011	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00306489643843484	0.05
18	51750381	G	C	18	54224011	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00104966492272708	0.03
18	51750381	G	T	18	54224011	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00107155315767254	0.004
18	51750382	A	C	18	54224012	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.33384416867555E-4	0.088
18	51750382	A	G	18	54224012	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.17578924577479E-4	0.124
18	51750382	A	T	18	54224012	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.80873129063212E-4	0.048
18	51750383	G	A	18	54224013	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	5.11061844176596E-5	0.0
18	51750383	G	C	18	54224013	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	8.21942054516799E-5	0.006
18	51750383	G	T	18	54224013	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	3.39879381228946E-5	0.004
18	51750384	G	A	18	54224014	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00130935737981778	0.064
18	51750384	G	C	18	54224014	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.00240122439802855	0.07
18	51750384	G	T	18	54224014	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	1.98276198375414E-4	0.04
18	51750385	T	A	18	54224015	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999946010283171	0.986
18	51750385	T	C	18	54224015	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.99489185299849	0.97
18	51750385	T	G	18	54224015	y	y	intronic	MBD2	.	.	intronic	ENSG00000134046	.	.	0.999859234569301	0.992
18	51750386	A	C	18	54224016	y	y	splicing	MBD2(NM_003927:exon2:c.542+2T>G;NM_015832:exon2:c.542+2T>G)	.	.	splicing	ENSG00000134046(ENST00000256429:exon2:c.542+2T>G;ENST00000398398:exon2:c.542+2T>G;ENST00000583046:exon2:c.542+2T>G)	.	.	0.999990155693597	0.926
18	51750386	A	G	18	54224016	y	y	splicing	MBD2(NM_003927:exon2:c.542+2T>C;NM_015832:exon2:c.542+2T>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon2:c.542+2T>C;ENST00000398398:exon2:c.542+2T>C;ENST00000583046:exon2:c.542+2T>C)	.	.	0.976497765262381	0.592
18	51750386	A	T	18	54224016	y	y	splicing	MBD2(NM_003927:exon2:c.542+2T>A;NM_015832:exon2:c.542+2T>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon2:c.542+2T>A;ENST00000398398:exon2:c.542+2T>A;ENST00000583046:exon2:c.542+2T>A)	.	.	0.999990155693597	0.926
18	51750387	C	A	18	54224017	y	y	splicing	MBD2(NM_003927:exon2:c.542+1G>T;NM_015832:exon2:c.542+1G>T)	.	.	splicing	ENSG00000134046(ENST00000256429:exon2:c.542+1G>T;ENST00000398398:exon2:c.542+1G>T;ENST00000583046:exon2:c.542+1G>T)	.	.	0.999988568935494	0.932
18	51750387	C	G	18	54224017	y	y	splicing	MBD2(NM_003927:exon2:c.542+1G>C;NM_015832:exon2:c.542+1G>C)	.	.	splicing	ENSG00000134046(ENST00000256429:exon2:c.542+1G>C;ENST00000398398:exon2:c.542+1G>C;ENST00000583046:exon2:c.542+1G>C)	.	.	0.999988568935494	0.93
18	51750387	C	T	18	54224017	y	y	splicing	MBD2(NM_003927:exon2:c.542+1G>A;NM_015832:exon2:c.542+1G>A)	.	.	splicing	ENSG00000134046(ENST00000256429:exon2:c.542+1G>A;ENST00000398398:exon2:c.542+1G>A;ENST00000583046:exon2:c.542+1G>A)	.	.	0.999988568935494	0.932
18	51750388	C	A	18	54224018	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon1:c.G542T:p.S181I;MBD2:NM_015832:exon1:c.G542T:p.S181I;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.G542T:p.S181I;ENSG00000134046:ENST00000256429:exon1:c.G542T:p.S181I;ENSG00000134046:ENST00000398398:exon1:c.G542T:p.S181I;	0.999390482551552	0.964
18	51750388	C	G	18	54224018	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon1:c.G542C:p.S181T;MBD2:NM_015832:exon1:c.G542C:p.S181T;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.G542C:p.S181T;ENSG00000134046:ENST00000256429:exon1:c.G542C:p.S181T;ENSG00000134046:ENST00000398398:exon1:c.G542C:p.S181T;	0.999931189199681	0.934
18	51750388	C	T	18	54224018	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon1:c.G542A:p.S181N;MBD2:NM_015832:exon1:c.G542A:p.S181N;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.G542A:p.S181N;ENSG00000134046:ENST00000256429:exon1:c.G542A:p.S181N;ENSG00000134046:ENST00000398398:exon1:c.G542A:p.S181N;	0.999983471980209	0.998
18	51750389	T	A	18	54224019	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon1:c.A541T:p.S181C;MBD2:NM_015832:exon1:c.A541T:p.S181C;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.A541T:p.S181C;ENSG00000134046:ENST00000256429:exon1:c.A541T:p.S181C;ENSG00000134046:ENST00000398398:exon1:c.A541T:p.S181C;	0.999330104428927	0.976
18	51750389	T	C	18	54224019	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon1:c.A541G:p.S181G;MBD2:NM_015832:exon1:c.A541G:p.S181G;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.A541G:p.S181G;ENSG00000134046:ENST00000256429:exon1:c.A541G:p.S181G;ENSG00000134046:ENST00000398398:exon1:c.A541G:p.S181G;	0.998585653922998	0.98
18	51750389	T	G	18	54224019	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon1:c.A541C:p.S181R;MBD2:NM_015832:exon1:c.A541C:p.S181R;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.A541C:p.S181R;ENSG00000134046:ENST00000256429:exon1:c.A541C:p.S181R;ENSG00000134046:ENST00000398398:exon1:c.A541C:p.S181R;	0.998088430364244	0.934
18	51750390	G	A	18	54224020	y	y	exonic	MBD2	synonymous SNV	MBD2:NM_003927:exon1:c.C540T:p.F180F;MBD2:NM_015832:exon1:c.C540T:p.F180F;	exonic	ENSG00000134046	synonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.C540T:p.F180F;ENSG00000134046:ENST00000256429:exon1:c.C540T:p.F180F;ENSG00000134046:ENST00000398398:exon1:c.C540T:p.F180F;	0.927210205935148	0.75
18	51750390	G	C	18	54224020	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon1:c.C540G:p.F180L;MBD2:NM_015832:exon1:c.C540G:p.F180L;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.C540G:p.F180L;ENSG00000134046:ENST00000256429:exon1:c.C540G:p.F180L;ENSG00000134046:ENST00000398398:exon1:c.C540G:p.F180L;	0.0356661549039482	0.214
18	51750390	G	T	18	54224020	y	y	exonic	MBD2	nonsynonymous SNV	MBD2:NM_003927:exon1:c.C540A:p.F180L;MBD2:NM_015832:exon1:c.C540A:p.F180L;	exonic	ENSG00000134046	nonsynonymous SNV	ENSG00000134046:ENST00000583046:exon1:c.C540A:p.F180L;ENSG00000134046:ENST00000256429:exon1:c.C540A:p.F180L;ENSG00000134046:ENST00000398398:exon1:c.C540A:p.F180L;	0.145184576662675	0.378
18	51796029	A	C	18	54269659	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon1:c.A113C:p.Q38P;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon1:c.A113C:p.Q38P;ENSG00000101751:ENST00000579534:exon1:c.A113C:p.Q38P;	6.01346428028919E-5	0.046
18	51796029	A	G	18	54269659	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon1:c.A113G:p.Q38R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon1:c.A113G:p.Q38R;ENSG00000101751:ENST00000579534:exon1:c.A113G:p.Q38R;	0.0032967157387818	0.082
18	51796029	A	T	18	54269659	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon1:c.A113T:p.Q38L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon1:c.A113T:p.Q38L;ENSG00000101751:ENST00000579534:exon1:c.A113T:p.Q38L;	0.00707083409136906	0.292
18	51796030	G	A	18	54269660	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon1:c.G114A:p.Q38Q;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon1:c.G114A:p.Q38Q;ENSG00000101751:ENST00000579534:exon1:c.G114A:p.Q38Q;	0.00235174773789872	0.176
18	51796030	G	C	18	54269660	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon1:c.G114C:p.Q38H;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon1:c.G114C:p.Q38H;ENSG00000101751:ENST00000579534:exon1:c.G114C:p.Q38H;	4.77101658520523E-4	0.034
18	51796030	G	T	18	54269660	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon1:c.G114T:p.Q38H;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon1:c.G114T:p.Q38H;ENSG00000101751:ENST00000579534:exon1:c.G114T:p.Q38H;	2.54159565479266E-4	0.068
18	51796031	G	A	18	54269661	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon1:c.G115A:p.G39R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon1:c.G115A:p.G39R;ENSG00000101751:ENST00000579534:exon1:c.G115A:p.G39R;	0.999988622069281	0.986
18	51796031	G	C	18	54269661	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon1:c.G115C:p.G39R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon1:c.G115C:p.G39R;ENSG00000101751:ENST00000579534:exon1:c.G115C:p.G39R;	0.99997902018237	0.978
18	51796031	G	T	18	54269661	y	y	exonic	POLI	stopgain SNV	POLI:NM_007195:exon1:c.G115T:p.G39X;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon1:c.G115T:p.G39X;ENSG00000101751:ENST00000579534:exon1:c.G115T:p.G39X;	0.999991784514113	0.998
18	51796032	G	A	18	54269662	y	y	splicing	POLI(NM_007195:exon1:c.115+1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon1:c.115+1G>A;ENST00000406285:exon1:c.115+1G>A;ENST00000577612:exon1:c.111+1G>A)	.	.	0.999802262042215	0.756
18	51796032	G	C	18	54269662	y	y	splicing	POLI(NM_007195:exon1:c.115+1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon1:c.115+1G>C;ENST00000406285:exon1:c.115+1G>C;ENST00000577612:exon1:c.111+1G>C)	.	.	0.999802262042215	0.742
18	51796032	G	T	18	54269662	y	y	splicing	POLI(NM_007195:exon1:c.115+1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon1:c.115+1G>T;ENST00000406285:exon1:c.115+1G>T;ENST00000577612:exon1:c.111+1G>T)	.	.	0.999802262042215	0.748
18	51796033	T	A	18	54269663	y	y	splicing	POLI(NM_007195:exon1:c.115+2T>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon1:c.115+2T>A;ENST00000406285:exon1:c.115+2T>A;ENST00000577612:exon1:c.111+2T>A)	.	.	0.999919871393029	0.624
18	51796033	T	C	18	54269663	y	y	splicing	POLI(NM_007195:exon1:c.115+2T>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon1:c.115+2T>C;ENST00000406285:exon1:c.115+2T>C;ENST00000577612:exon1:c.111+2T>C)	.	.	0.999163095738109	0.638
18	51796033	T	G	18	54269663	y	y	splicing	POLI(NM_007195:exon1:c.115+2T>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon1:c.115+2T>G;ENST00000406285:exon1:c.115+2T>G;ENST00000577612:exon1:c.111+2T>G)	.	.	0.999919871393029	0.608
18	51796034	G	A	18	54269664	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	8.19370805589529E-4	0.012
18	51796034	G	C	18	54269664	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	0.996923395987567	0.82
18	51796034	G	T	18	54269664	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	0.996923395987567	0.794
18	51796035	C	A	18	54269665	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	8.87382672176739E-4	0.132
18	51796035	C	G	18	54269665	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	3.56577245853709E-4	0.104
18	51796035	C	T	18	54269665	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	0.014240367268351	0.164
18	51796036	G	A	18	54269666	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	0.999801394578633	0.93
18	51796036	G	C	18	54269666	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	0.999938149034141	0.968
18	51796036	G	T	18	54269666	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	0.999786228921306	0.952
18	51796037	C	A	18	54269667	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	0.00487559013183788	0.09
18	51796037	C	G	18	54269667	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	0.00134489878439168	0.1
18	51796037	C	T	18	54269667	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	4.47488118538175E-4	0.058
18	51796038	C	A	18	54269668	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	1.47556996483991E-5	0.004
18	51796038	C	G	18	54269668	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	4.45141453685492E-5	0.002
18	51796038	C	T	18	54269668	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	5.67349313784956E-5	0.078
18	51796039	G	A	18	54269669	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	5.48253737983379E-5	0.0
18	51796039	G	C	18	54269669	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	5.45114607332959E-5	0.014
18	51796039	G	T	18	54269669	y	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	5.48253737983379E-5	0.002
18	51796400	A	C	18	54270030	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	5.44385453626159E-5	0.0
18	51796400	A	G	18	54270030	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	5.44385453626159E-5	0.034
18	51796400	A	T	18	54270030	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	5.44385453626159E-5	0.0
18	51796401	A	C	18	54270031	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	2.3994564522384E-5	0.006
18	51796401	A	G	18	54270031	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	2.3994564522384E-5	0.006
18	51796401	A	T	18	54270031	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	2.3994564522384E-5	0.006
18	51796402	G	A	18	54270032	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	2.3994564522384E-5	0.008
18	51796402	G	C	18	54270032	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	2.3994564522384E-5	0.012
18	51796402	G	T	18	54270032	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	2.3994564522384E-5	0.012
18	51796403	G	A	18	54270033	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	8.49702646665041E-5	0.004
18	51796403	G	C	18	54270033	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	4.08802802279601E-5	0.002
18	51796403	G	T	18	54270033	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	8.49702646665041E-5	0.008
18	51796404	T	A	18	54270034	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	5.15941453541388E-5	0.0
18	51796404	T	C	18	54270034	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	5.15941453541388E-5	0.002
18	51796404	T	G	18	54270034	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	5.15941453541388E-5	0.002
18	51796405	G	A	18	54270035	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.9744004704441E-5	0.0
18	51796405	G	C	18	54270035	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.9744004704441E-5	0.0
18	51796405	G	T	18	54270035	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.9744004704441E-5	0.0
18	51796406	G	A	18	54270036	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.78929785447708E-5	0.004
18	51796406	G	C	18	54270036	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.78929785447708E-5	0.004
18	51796406	G	T	18	54270036	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.78929785447708E-5	0.004
18	51796407	G	A	18	54270037	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.23555218938291E-4	0.016
18	51796407	G	C	18	54270037	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.21042794135236E-4	0.018
18	51796407	G	T	18	54270037	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.23555218938291E-4	0.016
18	51796408	A	C	18	54270038	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.5529151830241E-5	0.0
18	51796408	A	G	18	54270038	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.5529151830241E-5	0.0
18	51796408	A	T	18	54270038	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.00925306948278E-4	0.0
18	51796409	C	A	18	54270039	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.35697579118787E-5	0.0
18	51796409	C	G	18	54270039	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.59797615271383E-5	0.0
18	51796409	C	T	18	54270039	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.65778582306901E-5	0.0
18	51796410	C	A	18	54270040	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.78684081159298E-5	0.002
18	51796410	C	G	18	54270040	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.78684081159298E-5	0.002
18	51796410	C	T	18	54270040	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.09395893123295E-5	0.002
18	51797718	C	A	18	54271348	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.14591354816501E-4	0.048
18	51797718	C	G	18	54271348	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.15817182392656E-4	0.03
18	51797718	C	T	18	54271348	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.23774681805705E-5	0.0
18	51797719	A	C	18	54271349	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.07787443080673E-5	0.008
18	51797719	A	G	18	54271349	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.16543202965531E-5	0.0
18	51797719	A	T	18	54271349	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.32179458247776E-4	0.178
18	51797720	T	A	18	54271350	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.410020034373826	0.478
18	51797720	T	C	18	54271350	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00141549124472914	0.134
18	51797720	T	G	18	54271350	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999938448523596	0.972
18	51797721	A	C	18	54271351	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.28231311891358E-5	0.004
18	51797721	A	G	18	54271351	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.33758351765887E-4	0.014
18	51797721	A	T	18	54271351	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.28231311891358E-5	0.024
18	51797722	T	A	18	54271352	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00846374221514101	0.182
18	51797722	T	C	18	54271352	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.00252473561653E-5	0.05
18	51797722	T	G	18	54271352	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.99995894238372	0.988
18	51797723	T	A	18	54271353	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.992751367780893	0.9
18	51797723	T	C	18	54271353	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.62618720832545E-5	0.012
18	51797723	T	G	18	54271353	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00171914422421608	0.102
18	51797724	G	A	18	54271354	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.79834039003284E-4	0.074
18	51797724	G	C	18	54271354	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.06481237244302E-5	0.0
18	51797724	G	T	18	54271354	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.06481237244302E-5	0.0
18	51797725	T	A	18	54271355	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.992967865317724	0.906
18	51797725	T	C	18	54271355	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00131447460427091	0.044
18	51797725	T	G	18	54271355	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.72403346900018	0.468
18	51797726	G	A	18	54271356	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.07019681097993E-5	0.004
18	51797726	G	C	18	54271356	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.67561502876298E-5	0.002
18	51797726	G	T	18	54271356	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.52830050253851E-5	0.006
18	51797727	C	A	18	54271357	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.981997765051824	0.754
18	51797727	C	G	18	54271357	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999556294523346	0.772
18	51797727	C	T	18	54271357	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00104046250579233	0.076
18	51797728	A	C	18	54271358	y	y	splicing	POLI(NM_007195:exon2:c.116-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.116-2A>C;ENST00000406285:exon2:c.116-2A>C)	.	.	0.999810805964862	0.592
18	51797728	A	G	18	54271358	y	y	splicing	POLI(NM_007195:exon2:c.116-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.116-2A>G;ENST00000406285:exon2:c.116-2A>G)	.	.	0.999810805964862	0.592
18	51797728	A	T	18	54271358	y	y	splicing	POLI(NM_007195:exon2:c.116-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.116-2A>T;ENST00000406285:exon2:c.116-2A>T)	.	.	0.999810805964862	0.61
18	51797729	G	A	18	54271359	y	y	splicing	POLI(NM_007195:exon2:c.116-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.116-1G>A;ENST00000406285:exon2:c.116-1G>A)	.	.	0.999693212597048	0.61
18	51797729	G	C	18	54271359	y	y	splicing	POLI(NM_007195:exon2:c.116-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.116-1G>C;ENST00000406285:exon2:c.116-1G>C)	.	.	0.999693212597048	0.592
18	51797729	G	T	18	54271359	y	y	splicing	POLI(NM_007195:exon2:c.116-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.116-1G>T;ENST00000406285:exon2:c.116-1G>T)	.	.	0.999693212597048	0.606
18	51797730	G	A	18	54271360	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.G116A:p.G39E;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.G116A:p.G39E;ENSG00000101751:ENST00000579534:exon2:c.G116A:p.G39E;	0.0036212613423645	0.276
18	51797730	G	C	18	54271360	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.G116C:p.G39A;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.G116C:p.G39A;ENSG00000101751:ENST00000579534:exon2:c.G116C:p.G39A;	0.00225549721980213	0.424
18	51797730	G	T	18	54271360	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.G116T:p.G39V;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.G116T:p.G39V;ENSG00000101751:ENST00000579534:exon2:c.G116T:p.G39V;	0.77084749102392	0.458
18	51797731	A	C	18	54271361	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon2:c.A117C:p.G39G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.A117C:p.G39G;ENSG00000101751:ENST00000579534:exon2:c.A117C:p.G39G;	1.47968157487386E-4	0.006
18	51797731	A	G	18	54271361	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon2:c.A117G:p.G39G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.A117G:p.G39G;ENSG00000101751:ENST00000579534:exon2:c.A117G:p.G39G;	1.35378882767154E-4	0.006
18	51797731	A	T	18	54271361	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon2:c.A117T:p.G39G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.A117T:p.G39G;ENSG00000101751:ENST00000579534:exon2:c.A117T:p.G39G;	2.70228680522518E-4	0.022
18	51797853	T	A	18	54271483	y	y	exonic	POLI	stopgain SNV	POLI:NM_007195:exon2:c.T239A:p.L80X;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon2:c.T239A:p.L80X;ENSG00000101751:ENST00000579534:exon2:c.T239A:p.L80X;ENSG00000101751:ENST00000583136:exon2:c.T35A:p.L12X;	0.554097838698832	0.73
18	51797853	T	C	18	54271483	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.T239C:p.L80S;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.T239C:p.L80S;ENSG00000101751:ENST00000579534:exon2:c.T239C:p.L80S;ENSG00000101751:ENST00000583136:exon2:c.T35C:p.L12S;	0.496750424057785	0.664
18	51797853	T	G	18	54271483	y	y	exonic	POLI	stopgain SNV	POLI:NM_007195:exon2:c.T239G:p.L80X;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon2:c.T239G:p.L80X;ENSG00000101751:ENST00000579534:exon2:c.T239G:p.L80X;ENSG00000101751:ENST00000583136:exon2:c.T35G:p.L12X;	0.58335204515292	0.806
18	51797854	A	C	18	54271484	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.A240C:p.L80F;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.A240C:p.L80F;ENSG00000101751:ENST00000579534:exon2:c.A240C:p.L80F;ENSG00000101751:ENST00000583136:exon2:c.A36C:p.L12F;	0.986999751755675	0.912
18	51797854	A	G	18	54271484	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon2:c.A240G:p.L80L;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.A240G:p.L80L;ENSG00000101751:ENST00000579534:exon2:c.A240G:p.L80L;ENSG00000101751:ENST00000583136:exon2:c.A36G:p.L12L;	0.998557229262989	0.968
18	51797854	A	T	18	54271484	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.A240T:p.L80F;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.A240T:p.L80F;ENSG00000101751:ENST00000579534:exon2:c.A240T:p.L80F;ENSG00000101751:ENST00000583136:exon2:c.A36T:p.L12F;	0.999855455015637	0.992
18	51797855	G	A	18	54271485	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.G241A:p.G81R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.G241A:p.G81R;ENSG00000101751:ENST00000579534:exon2:c.G241A:p.G81R;ENSG00000101751:ENST00000583136:exon2:c.G37A:p.G13R;	0.9999958044742	0.998
18	51797855	G	C	18	54271485	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.G241C:p.G81R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.G241C:p.G81R;ENSG00000101751:ENST00000579534:exon2:c.G241C:p.G81R;ENSG00000101751:ENST00000583136:exon2:c.G37C:p.G13R;	0.999994489789114	0.996
18	51797855	G	T	18	54271485	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon2:c.G241T:p.G81W;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon2:c.G241T:p.G81W;ENSG00000101751:ENST00000579534:exon2:c.G241T:p.G81W;ENSG00000101751:ENST00000583136:exon2:c.G37T:p.G13W;	0.999981098862585	0.992
18	51797856	G	A	18	54271486	y	y	splicing	POLI(NM_007195:exon2:c.241+1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.241+1G>A;ENST00000406285:exon2:c.241+1G>A;ENST00000583136:exon2:c.37+1G>A)	.	.	0.999986675681007	0.934
18	51797856	G	C	18	54271486	y	y	splicing	POLI(NM_007195:exon2:c.241+1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.241+1G>C;ENST00000406285:exon2:c.241+1G>C;ENST00000583136:exon2:c.37+1G>C)	.	.	0.999986675681007	0.934
18	51797856	G	T	18	54271486	y	y	splicing	POLI(NM_007195:exon2:c.241+1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.241+1G>T;ENST00000406285:exon2:c.241+1G>T;ENST00000583136:exon2:c.37+1G>T)	.	.	0.999986675681007	0.934
18	51797857	T	A	18	54271487	y	y	splicing	POLI(NM_007195:exon2:c.241+2T>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.241+2T>A;ENST00000406285:exon2:c.241+2T>A;ENST00000583136:exon2:c.37+2T>A)	.	.	0.999989917668626	0.926
18	51797857	T	C	18	54271487	y	y	splicing	POLI(NM_007195:exon2:c.241+2T>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.241+2T>C;ENST00000406285:exon2:c.241+2T>C;ENST00000583136:exon2:c.37+2T>C)	.	.	0.986528855787127	0.622
18	51797857	T	G	18	54271487	y	y	splicing	POLI(NM_007195:exon2:c.241+2T>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon2:c.241+2T>G;ENST00000406285:exon2:c.241+2T>G;ENST00000583136:exon2:c.37+2T>G)	.	.	0.999989917668626	0.912
18	51797858	A	C	18	54271488	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999936001461398	0.962
18	51797858	A	G	18	54271488	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.998692167475467	0.93
18	51797858	A	T	18	54271488	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999932860330177	0.972
18	51797859	A	C	18	54271489	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.89271239906198	0.622
18	51797859	A	G	18	54271489	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.992113807823258	0.746
18	51797859	A	T	18	54271489	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.980160758708756	0.734
18	51797860	C	A	18	54271490	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.69282216670636E-5	0.006
18	51797860	C	G	18	54271490	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.81449175524466E-5	0.096
18	51797860	C	T	18	54271490	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.236411048378E-5	0.0
18	51797861	T	A	18	54271491	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0395072079976646	0.314
18	51797861	T	C	18	54271491	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0218008768502887	0.342
18	51797861	T	G	18	54271491	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0050431154559112	0.294
18	51797862	G	A	18	54271492	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.44312574922614E-5	0.0
18	51797862	G	C	18	54271492	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.41691284278849E-5	0.0
18	51797862	G	T	18	54271492	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.66991244534814E-4	0.006
18	51797863	T	A	18	54271493	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.3265434253836E-5	0.0
18	51797863	T	C	18	54271493	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.84469209515348E-5	0.0
18	51797863	T	G	18	54271493	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.5452681548873E-4	0.0
18	51798610	A	C	18	54272240	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	4.24975915077222E-5	0.0
18	51798610	A	G	18	54272240	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	4.24975915077222E-5	0.0
18	51798610	A	T	18	54272240	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	4.24975915077222E-5	0.0
18	51798611	A	C	18	54272241	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	4.24975915077222E-5	0.0
18	51798611	A	G	18	54272241	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	4.24975915077222E-5	0.0
18	51798611	A	T	18	54272241	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	4.24975915077222E-5	0.0
18	51798612	G	A	18	54272242	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	8.29444940048665E-5	0.006
18	51798612	G	C	18	54272242	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	3.99056141236358E-5	0.002
18	51798612	G	T	18	54272242	n	y	intronic	POLI	.	.	UTR5	ENSG00000101751	.	.	8.29444940048665E-5	0.008
18	51798613	G	A	18	54272243	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	3.09182217261609E-5	0.0
18	51798613	G	C	18	54272243	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	3.09182217261609E-5	0.0
18	51798613	G	T	18	54272243	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	3.09182217261609E-5	0.0
18	51798614	T	A	18	54272244	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	3.87666936719582E-5	0.002
18	51798614	T	C	18	54272244	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	3.87666936719582E-5	0.0
18	51798614	T	G	18	54272244	n	y	intronic	POLI	.	.	splicing	ENSG00000101751	.	.	3.87666936719582E-5	0.0
18	51798615	G	A	18	54272245	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.45277156108894E-5	0.0
18	51798615	G	C	18	54272245	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.45277156108894E-5	0.0
18	51798615	G	T	18	54272245	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.45277156108894E-5	0.0
18	51798616	A	C	18	54272246	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.38258961194127E-5	0.016
18	51798616	A	G	18	54272246	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.38258961194127E-5	0.016
18	51798616	A	T	18	54272246	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.52086759380612E-5	0.012
18	51798617	G	A	18	54272247	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.52932449848953E-5	0.002
18	51798617	G	C	18	54272247	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.52932449848953E-5	0.004
18	51798617	G	T	18	54272247	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.52932449848953E-5	0.006
18	51798618	T	A	18	54272248	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.83708300348738E-5	0.002
18	51798618	T	C	18	54272248	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.80994074047231E-5	0.0
18	51798618	T	G	18	54272248	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.80994074047231E-5	0.0
18	51798619	C	A	18	54272249	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.73477007530828E-5	0.008
18	51798619	C	G	18	54272249	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.24015432087519E-5	0.004
18	51798619	C	T	18	54272249	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.73477007530828E-5	0.006
18	51798620	T	A	18	54272250	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.1020973109669E-5	0.0
18	51798620	T	C	18	54272250	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.256915070725E-5	0.0
18	51798620	T	G	18	54272250	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.256915070725E-5	0.004
18	51800284	T	A	18	54273914	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.674943231135916	0.616
18	51800284	T	C	18	54273914	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0025970460455703	0.108
18	51800284	T	G	18	54273914	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999915215859791	0.974
18	51800285	A	C	18	54273915	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.56001695662827E-5	0.002
18	51800285	A	G	18	54273915	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.10795838461849E-5	0.008
18	51800285	A	T	18	54273915	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.59468542320149E-5	0.118
18	51800286	T	A	18	54273916	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.399539161631853	0.59
18	51800286	T	C	18	54273916	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00787654187934911	0.202
18	51800286	T	G	18	54273916	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999943734630869	0.968
18	51800287	T	A	18	54273917	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.509127593683098	0.454
18	51800287	T	C	18	54273917	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00200456646996596	0.07
18	51800287	T	G	18	54273917	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.364785480922718	0.428
18	51800288	T	A	18	54273918	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.841289769390479	0.586
18	51800288	T	C	18	54273918	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00243337615813799	0.03
18	51800288	T	G	18	54273918	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.559366083677175	0.554
18	51800289	T	A	18	54273919	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.050198929336786	0.232
18	51800289	T	C	18	54273919	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.32333945231786E-4	0.032
18	51800289	T	G	18	54273919	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0153649515650146	0.15
18	51800290	T	A	18	54273920	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.752755454263258	0.578
18	51800290	T	C	18	54273920	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.42627385269995E-4	0.01
18	51800290	T	G	18	54273920	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.948724077766971	0.622
18	51800291	T	A	18	54273921	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.14844755018316	0.314
18	51800291	T	C	18	54273921	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.95393709392787E-4	0.08
18	51800291	T	G	18	54273921	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.342159026519428	0.342
18	51800292	A	C	18	54273922	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.45041519426278E-5	0.002
18	51800292	A	G	18	54273922	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.05886537204162E-4	0.096
18	51800292	A	T	18	54273922	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.21660692451315E-5	0.0
18	51800293	C	A	18	54273923	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.421605543329117	0.346
18	51800293	C	G	18	54273923	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.995162805874294	0.674
18	51800293	C	T	18	54273923	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.29954423220524E-4	0.008
18	51800294	A	C	18	54273924	y	y	splicing	POLI(NM_007195:exon3:c.242-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.242-2A>C;ENST00000406285:exon3:c.242-2A>C;ENST00000577612:exon2:c.112-2A>C;ENST00000583136:exon3:c.38-2A>C)	.	.	0.999988247793601	0.95
18	51800294	A	G	18	54273924	y	y	splicing	POLI(NM_007195:exon3:c.242-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.242-2A>G;ENST00000406285:exon3:c.242-2A>G;ENST00000577612:exon2:c.112-2A>G;ENST00000583136:exon3:c.38-2A>G)	.	.	0.999988247793601	0.95
18	51800294	A	T	18	54273924	y	y	splicing	POLI(NM_007195:exon3:c.242-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.242-2A>T;ENST00000406285:exon3:c.242-2A>T;ENST00000577612:exon2:c.112-2A>T;ENST00000583136:exon3:c.38-2A>T)	.	.	0.999988247793601	0.95
18	51800295	G	A	18	54273925	y	y	splicing	POLI(NM_007195:exon3:c.242-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.242-1G>A;ENST00000406285:exon3:c.242-1G>A;ENST00000577612:exon2:c.112-1G>A;ENST00000583136:exon3:c.38-1G>A)	.	.	0.999990361384395	0.948
18	51800295	G	C	18	54273925	y	y	splicing	POLI(NM_007195:exon3:c.242-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.242-1G>C;ENST00000406285:exon3:c.242-1G>C;ENST00000577612:exon2:c.112-1G>C;ENST00000583136:exon3:c.38-1G>C)	.	.	0.999990361384395	0.948
18	51800295	G	T	18	54273925	y	y	splicing	POLI(NM_007195:exon3:c.242-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.242-1G>T;ENST00000406285:exon3:c.242-1G>T;ENST00000577612:exon2:c.112-1G>T;ENST00000583136:exon3:c.38-1G>T)	.	.	0.999990361384395	0.948
18	51800296	G	A	18	54273926	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon3:c.G242A:p.G81E;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.G242A:p.G81E;ENSG00000101751:ENST00000579534:exon3:c.G242A:p.G81E;ENSG00000101751:ENST00000583136:exon3:c.G38A:p.G13E;	0.999719173806844	0.886
18	51800296	G	C	18	54273926	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon3:c.G242C:p.G81A;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.G242C:p.G81A;ENSG00000101751:ENST00000579534:exon3:c.G242C:p.G81A;ENSG00000101751:ENST00000583136:exon3:c.G38C:p.G13A;	0.999678108318584	0.916
18	51800296	G	T	18	54273926	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon3:c.G242T:p.G81V;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.G242T:p.G81V;ENSG00000101751:ENST00000579534:exon3:c.G242T:p.G81V;ENSG00000101751:ENST00000583136:exon3:c.G38T:p.G13V;	0.99990709176582	0.986
18	51800297	G	A	18	54273927	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon3:c.G243A:p.G81G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.G243A:p.G81G;ENSG00000101751:ENST00000579534:exon3:c.G243A:p.G81G;ENSG00000101751:ENST00000583136:exon3:c.G39A:p.G13G;	2.77928175629862E-5	0.02
18	51800297	G	C	18	54273927	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon3:c.G243C:p.G81G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.G243C:p.G81G;ENSG00000101751:ENST00000579534:exon3:c.G243C:p.G81G;ENSG00000101751:ENST00000583136:exon3:c.G39C:p.G13G;	1.94533593938321E-5	0.0
18	51800297	G	T	18	54273927	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon3:c.G243T:p.G81G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.G243T:p.G81G;ENSG00000101751:ENST00000579534:exon3:c.G243T:p.G81G;ENSG00000101751:ENST00000583136:exon3:c.G39T:p.G13G;	3.50540818065176E-5	0.0
18	51800458	C	A	18	54274088	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon3:c.C404A:p.T135K;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.C404A:p.T135K;ENSG00000101751:ENST00000580880:exon2:c.C95A:p.T32K;ENSG00000101751:ENST00000579434:exon2:c.C95A:p.T32K;ENSG00000101751:ENST00000579534:exon3:c.C404A:p.T135K;ENSG00000101751:ENST00000217800:exon2:c.C95A:p.T32K;ENSG00000101751:ENST00000583136:exon3:c.C200A:p.T67K;	0.953069443646897	0.682
18	51800458	C	G	18	54274088	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon3:c.C404G:p.T135R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.C404G:p.T135R;ENSG00000101751:ENST00000580880:exon2:c.C95G:p.T32R;ENSG00000101751:ENST00000579434:exon2:c.C95G:p.T32R;ENSG00000101751:ENST00000579534:exon3:c.C404G:p.T135R;ENSG00000101751:ENST00000217800:exon2:c.C95G:p.T32R;ENSG00000101751:ENST00000583136:exon3:c.C200G:p.T67R;	0.983003734542795	0.722
18	51800458	C	T	18	54274088	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon3:c.C404T:p.T135I;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.C404T:p.T135I;ENSG00000101751:ENST00000580880:exon2:c.C95T:p.T32I;ENSG00000101751:ENST00000579434:exon2:c.C95T:p.T32I;ENSG00000101751:ENST00000579534:exon3:c.C404T:p.T135I;ENSG00000101751:ENST00000217800:exon2:c.C95T:p.T32I;ENSG00000101751:ENST00000583136:exon3:c.C200T:p.T67I;	0.999833666122737	0.972
18	51800459	A	C	18	54274089	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon3:c.A405C:p.T135T;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.A405C:p.T135T;ENSG00000101751:ENST00000580880:exon2:c.A96C:p.T32T;ENSG00000101751:ENST00000579434:exon2:c.A96C:p.T32T;ENSG00000101751:ENST00000579534:exon3:c.A405C:p.T135T;ENSG00000101751:ENST00000217800:exon2:c.A96C:p.T32T;ENSG00000101751:ENST00000583136:exon3:c.A201C:p.T67T;	0.999622638234353	0.998
18	51800459	A	G	18	54274089	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon3:c.A405G:p.T135T;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.A405G:p.T135T;ENSG00000101751:ENST00000580880:exon2:c.A96G:p.T32T;ENSG00000101751:ENST00000579434:exon2:c.A96G:p.T32T;ENSG00000101751:ENST00000579534:exon3:c.A405G:p.T135T;ENSG00000101751:ENST00000217800:exon2:c.A96G:p.T32T;ENSG00000101751:ENST00000583136:exon3:c.A201G:p.T67T;	0.999583620018622	0.992
18	51800459	A	T	18	54274089	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon3:c.A405T:p.T135T;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.A405T:p.T135T;ENSG00000101751:ENST00000580880:exon2:c.A96T:p.T32T;ENSG00000101751:ENST00000579434:exon2:c.A96T:p.T32T;ENSG00000101751:ENST00000579534:exon3:c.A405T:p.T135T;ENSG00000101751:ENST00000217800:exon2:c.A96T:p.T32T;ENSG00000101751:ENST00000583136:exon3:c.A201T:p.T67T;	0.999833412534867	0.992
18	51800460	G	A	18	54274090	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon3:c.G406A:p.E136K;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.G406A:p.E136K;ENSG00000101751:ENST00000580880:exon2:c.G97A:p.E33K;ENSG00000101751:ENST00000579434:exon2:c.G97A:p.E33K;ENSG00000101751:ENST00000579534:exon3:c.G406A:p.E136K;ENSG00000101751:ENST00000217800:exon2:c.G97A:p.E33K;ENSG00000101751:ENST00000583136:exon3:c.G202A:p.E68K;	0.999990979113977	1.0
18	51800460	G	C	18	54274090	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon3:c.G406C:p.E136Q;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon3:c.G406C:p.E136Q;ENSG00000101751:ENST00000580880:exon2:c.G97C:p.E33Q;ENSG00000101751:ENST00000579434:exon2:c.G97C:p.E33Q;ENSG00000101751:ENST00000579534:exon3:c.G406C:p.E136Q;ENSG00000101751:ENST00000217800:exon2:c.G97C:p.E33Q;ENSG00000101751:ENST00000583136:exon3:c.G202C:p.E68Q;	0.999995272675957	0.984
18	51800460	G	T	18	54274090	y	y	exonic	POLI	stopgain SNV	POLI:NM_007195:exon3:c.G406T:p.E136X;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon3:c.G406T:p.E136X;ENSG00000101751:ENST00000580880:exon2:c.G97T:p.E33X;ENSG00000101751:ENST00000579434:exon2:c.G97T:p.E33X;ENSG00000101751:ENST00000579534:exon3:c.G406T:p.E136X;ENSG00000101751:ENST00000217800:exon2:c.G97T:p.E33X;ENSG00000101751:ENST00000583136:exon3:c.G202T:p.E68X;	0.999994342005323	0.878
18	51800461	G	A	18	54274091	y	y	splicing	POLI(NM_007195:exon3:c.406+1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.406+1G>A;ENST00000406285:exon3:c.406+1G>A;ENST00000577612:exon2:c.276+1G>A;ENST00000579434:exon2:c.97+1G>A;ENST00000583136:exon3:c.202+1G>A;ENST00000217800:exon2:c.97+1G>A;ENST00000580880:exon2:c.97+1G>A)	.	.	0.999990361384395	0.938
18	51800461	G	C	18	54274091	y	y	splicing	POLI(NM_007195:exon3:c.406+1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.406+1G>C;ENST00000406285:exon3:c.406+1G>C;ENST00000577612:exon2:c.276+1G>C;ENST00000579434:exon2:c.97+1G>C;ENST00000583136:exon3:c.202+1G>C;ENST00000217800:exon2:c.97+1G>C;ENST00000580880:exon2:c.97+1G>C)	.	.	0.999990361384395	0.938
18	51800461	G	T	18	54274091	y	y	splicing	POLI(NM_007195:exon3:c.406+1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.406+1G>T;ENST00000406285:exon3:c.406+1G>T;ENST00000577612:exon2:c.276+1G>T;ENST00000579434:exon2:c.97+1G>T;ENST00000583136:exon3:c.202+1G>T;ENST00000217800:exon2:c.97+1G>T;ENST00000580880:exon2:c.97+1G>T)	.	.	0.999990361384395	0.938
18	51800462	T	A	18	54274092	y	y	splicing	POLI(NM_007195:exon3:c.406+2T>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.406+2T>A;ENST00000406285:exon3:c.406+2T>A;ENST00000577612:exon2:c.276+2T>A;ENST00000579434:exon2:c.97+2T>A;ENST00000583136:exon3:c.202+2T>A;ENST00000217800:exon2:c.97+2T>A;ENST00000580880:exon2:c.97+2T>A)	.	.	0.999988247793601	0.928
18	51800462	T	C	18	54274092	y	y	splicing	POLI(NM_007195:exon3:c.406+2T>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.406+2T>C;ENST00000406285:exon3:c.406+2T>C;ENST00000577612:exon2:c.276+2T>C;ENST00000579434:exon2:c.97+2T>C;ENST00000583136:exon3:c.202+2T>C;ENST00000217800:exon2:c.97+2T>C;ENST00000580880:exon2:c.97+2T>C)	.	.	0.992577803696025	0.682
18	51800462	T	G	18	54274092	y	y	splicing	POLI(NM_007195:exon3:c.406+2T>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon3:c.406+2T>G;ENST00000406285:exon3:c.406+2T>G;ENST00000577612:exon2:c.276+2T>G;ENST00000579434:exon2:c.97+2T>G;ENST00000583136:exon3:c.202+2T>G;ENST00000217800:exon2:c.97+2T>G;ENST00000580880:exon2:c.97+2T>G)	.	.	0.999988247793601	0.928
18	51800463	A	C	18	54274093	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999948023374413	0.938
18	51800463	A	G	18	54274093	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.996471442729168	0.866
18	51800463	A	T	18	54274093	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999957462133828	0.932
18	51800464	C	A	18	54274094	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.30936449855845E-4	0.056
18	51800464	C	G	18	54274094	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.3651973722644E-4	0.172
18	51800464	C	T	18	54274094	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.4398894669638E-4	0.202
18	51800465	A	C	18	54274095	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.42386308318177E-4	0.06
18	51800465	A	G	18	54274095	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.95608976597369E-4	0.068
18	51800465	A	T	18	54274095	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.37398697260651E-4	0.034
18	51800466	A	C	18	54274096	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.38847747103879E-4	0.058
18	51800466	A	G	18	54274096	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.22131716931696E-5	0.016
18	51800466	A	T	18	54274096	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.57404195716703E-5	0.018
18	51800467	A	C	18	54274097	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.15534999524784E-4	0.004
18	51800467	A	G	18	54274097	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.21256573467393E-4	0.004
18	51800467	A	T	18	54274097	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.09394939655698E-4	0.0
18	51800468	T	A	18	54274098	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.1911511887652E-4	0.004
18	51800468	T	C	18	54274098	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.11975306319612E-4	0.012
18	51800468	T	G	18	54274098	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.45495379120052E-4	0.016
18	51804061	A	C	18	54277691	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.014798549448931	0.232
18	51804061	A	G	18	54277691	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00479461676755953	0.108
18	51804061	A	T	18	54277691	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0177833241964505	0.424
18	51804062	T	A	18	54277692	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999618199379713	0.946
18	51804062	T	C	18	54277692	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.965841680044915	0.752
18	51804062	T	G	18	54277692	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999988992878791	0.986
18	51804063	T	A	18	54277693	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.990802233826853	0.804
18	51804063	T	C	18	54277693	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00508222135176177	0.148
18	51804063	T	G	18	54277693	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.947074990149149	0.81
18	51804064	T	A	18	54277694	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999403190056543	0.952
18	51804064	T	C	18	54277694	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.224076787343922	0.324
18	51804064	T	G	18	54277694	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.998908266081792	0.922
18	51804065	C	A	18	54277695	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.51256807740139E-4	0.054
18	51804065	C	G	18	54277695	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.51572550158494E-4	0.058
18	51804065	C	T	18	54277695	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.51978100060124E-5	0.004
18	51804066	A	C	18	54277696	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.34566529947332E-5	0.006
18	51804066	A	G	18	54277696	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.07792964541669E-5	0.002
18	51804066	A	T	18	54277696	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.36129072862755E-5	0.012
18	51804067	A	C	18	54277697	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.23392574153982E-4	0.014
18	51804067	A	G	18	54277697	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999327137224847	0.966
18	51804067	A	T	18	54277697	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.12773474686231E-4	0.01
18	51804068	T	A	18	54277698	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.696527566286044	0.51
18	51804068	T	C	18	54277698	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00123507047589945	0.252
18	51804068	T	G	18	54277698	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999973068042073	0.934
18	51804069	T	A	18	54277699	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00144322298650215	0.054
18	51804069	T	C	18	54277699	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.86087419927114E-4	0.06
18	51804069	T	G	18	54277699	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00424149898184709	0.074
18	51804070	T	A	18	54277700	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.98068540646761	0.66
18	51804070	T	C	18	54277700	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00137904408424195	0.07
18	51804070	T	G	18	54277700	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999346626631601	0.916
18	51804071	A	C	18	54277701	y	y	splicing	POLI(NM_007195:exon4:c.407-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.407-2A>C;ENST00000406285:exon4:c.407-2A>C;ENST00000577612:exon3:c.277-2A>C;ENST00000579434:exon3:c.98-2A>C;ENST00000583136:exon4:c.203-2A>C;ENST00000580880:exon3:c.98-2A>C)	.	.	0.999988624979899	0.942
18	51804071	A	G	18	54277701	y	y	splicing	POLI(NM_007195:exon4:c.407-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.407-2A>G;ENST00000406285:exon4:c.407-2A>G;ENST00000577612:exon3:c.277-2A>G;ENST00000579434:exon3:c.98-2A>G;ENST00000583136:exon4:c.203-2A>G;ENST00000580880:exon3:c.98-2A>G)	.	.	0.999988624979899	0.942
18	51804071	A	T	18	54277701	y	y	splicing	POLI(NM_007195:exon4:c.407-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.407-2A>T;ENST00000406285:exon4:c.407-2A>T;ENST00000577612:exon3:c.277-2A>T;ENST00000579434:exon3:c.98-2A>T;ENST00000583136:exon4:c.203-2A>T;ENST00000580880:exon3:c.98-2A>T)	.	.	0.999988624979899	0.942
18	51804072	G	A	18	54277702	y	y	splicing	POLI(NM_007195:exon4:c.407-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.407-1G>A;ENST00000406285:exon4:c.407-1G>A;ENST00000577612:exon3:c.277-1G>A;ENST00000579434:exon3:c.98-1G>A;ENST00000583136:exon4:c.203-1G>A;ENST00000580880:exon3:c.98-1G>A)	.	.	0.999984967332678	0.94
18	51804072	G	C	18	54277702	y	y	splicing	POLI(NM_007195:exon4:c.407-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.407-1G>C;ENST00000406285:exon4:c.407-1G>C;ENST00000577612:exon3:c.277-1G>C;ENST00000579434:exon3:c.98-1G>C;ENST00000583136:exon4:c.203-1G>C;ENST00000580880:exon3:c.98-1G>C)	.	.	0.999984967332678	0.94
18	51804072	G	T	18	54277702	y	y	splicing	POLI(NM_007195:exon4:c.407-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.407-1G>T;ENST00000406285:exon4:c.407-1G>T;ENST00000577612:exon3:c.277-1G>T;ENST00000579434:exon3:c.98-1G>T;ENST00000583136:exon4:c.203-1G>T;ENST00000580880:exon3:c.98-1G>T)	.	.	0.999984967332678	0.94
18	51804073	A	C	18	54277703	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.A407C:p.E136A;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A407C:p.E136A;ENSG00000101751:ENST00000580880:exon3:c.A98C:p.E33A;ENSG00000101751:ENST00000579434:exon3:c.A98C:p.E33A;ENSG00000101751:ENST00000579534:exon4:c.A407C:p.E136A;ENSG00000101751:ENST00000583136:exon4:c.A203C:p.E68A;	0.212616475296661	0.376
18	51804073	A	G	18	54277703	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.A407G:p.E136G;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A407G:p.E136G;ENSG00000101751:ENST00000580880:exon3:c.A98G:p.E33G;ENSG00000101751:ENST00000579434:exon3:c.A98G:p.E33G;ENSG00000101751:ENST00000579534:exon4:c.A407G:p.E136G;ENSG00000101751:ENST00000583136:exon4:c.A203G:p.E68G;	0.0235044399492981	0.228
18	51804073	A	T	18	54277703	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.A407T:p.E136V;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A407T:p.E136V;ENSG00000101751:ENST00000580880:exon3:c.A98T:p.E33V;ENSG00000101751:ENST00000579434:exon3:c.A98T:p.E33V;ENSG00000101751:ENST00000579534:exon4:c.A407T:p.E136V;ENSG00000101751:ENST00000583136:exon4:c.A203T:p.E68V;	0.423450037201398	0.36
18	51804074	A	C	18	54277704	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.A408C:p.E136D;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A408C:p.E136D;ENSG00000101751:ENST00000580880:exon3:c.A99C:p.E33D;ENSG00000101751:ENST00000579434:exon3:c.A99C:p.E33D;ENSG00000101751:ENST00000579534:exon4:c.A408C:p.E136D;ENSG00000101751:ENST00000583136:exon4:c.A204C:p.E68D;	9.60185403326521E-4	0.088
18	51804074	A	G	18	54277704	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon4:c.A408G:p.E136E;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A408G:p.E136E;ENSG00000101751:ENST00000580880:exon3:c.A99G:p.E33E;ENSG00000101751:ENST00000579434:exon3:c.A99G:p.E33E;ENSG00000101751:ENST00000579534:exon4:c.A408G:p.E136E;ENSG00000101751:ENST00000583136:exon4:c.A204G:p.E68E;	0.00104723281955861	0.012
18	51804074	A	T	18	54277704	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.A408T:p.E136D;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A408T:p.E136D;ENSG00000101751:ENST00000580880:exon3:c.A99T:p.E33D;ENSG00000101751:ENST00000579434:exon3:c.A99T:p.E33D;ENSG00000101751:ENST00000579534:exon4:c.A408T:p.E136D;ENSG00000101751:ENST00000583136:exon4:c.A204T:p.E68D;	1.7240761728898E-4	0.044
18	51804223	A	C	18	54277853	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.A557C:p.Q186P;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A557C:p.Q186P;ENSG00000101751:ENST00000580880:exon3:c.A248C:p.Q83P;ENSG00000101751:ENST00000579434:exon3:c.A248C:p.Q83P;ENSG00000101751:ENST00000579534:exon4:c.A557C:p.Q186P;ENSG00000101751:ENST00000217800:exon3:c.A179C:p.Q60P;ENSG00000101751:ENST00000583136:exon4:c.A353C:p.Q118P;	0.00216316644702626	0.014
18	51804223	A	G	18	54277853	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.A557G:p.Q186R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A557G:p.Q186R;ENSG00000101751:ENST00000580880:exon3:c.A248G:p.Q83R;ENSG00000101751:ENST00000579434:exon3:c.A248G:p.Q83R;ENSG00000101751:ENST00000579534:exon4:c.A557G:p.Q186R;ENSG00000101751:ENST00000217800:exon3:c.A179G:p.Q60R;ENSG00000101751:ENST00000583136:exon4:c.A353G:p.Q118R;	0.024456315497226	0.096
18	51804223	A	T	18	54277853	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.A557T:p.Q186L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.A557T:p.Q186L;ENSG00000101751:ENST00000580880:exon3:c.A248T:p.Q83L;ENSG00000101751:ENST00000579434:exon3:c.A248T:p.Q83L;ENSG00000101751:ENST00000579534:exon4:c.A557T:p.Q186L;ENSG00000101751:ENST00000217800:exon3:c.A179T:p.Q60L;ENSG00000101751:ENST00000583136:exon4:c.A353T:p.Q118L;	0.136143936326136	0.278
18	51804224	G	A	18	54277854	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon4:c.G558A:p.Q186Q;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.G558A:p.Q186Q;ENSG00000101751:ENST00000580880:exon3:c.G249A:p.Q83Q;ENSG00000101751:ENST00000579434:exon3:c.G249A:p.Q83Q;ENSG00000101751:ENST00000579534:exon4:c.G558A:p.Q186Q;ENSG00000101751:ENST00000217800:exon3:c.G180A:p.Q60Q;ENSG00000101751:ENST00000583136:exon4:c.G354A:p.Q118Q;	4.34866110171381E-4	0.084
18	51804224	G	C	18	54277854	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.G558C:p.Q186H;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.G558C:p.Q186H;ENSG00000101751:ENST00000580880:exon3:c.G249C:p.Q83H;ENSG00000101751:ENST00000579434:exon3:c.G249C:p.Q83H;ENSG00000101751:ENST00000579534:exon4:c.G558C:p.Q186H;ENSG00000101751:ENST00000217800:exon3:c.G180C:p.Q60H;ENSG00000101751:ENST00000583136:exon4:c.G354C:p.Q118H;	3.29190181171544E-4	0.016
18	51804224	G	T	18	54277854	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.G558T:p.Q186H;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.G558T:p.Q186H;ENSG00000101751:ENST00000580880:exon3:c.G249T:p.Q83H;ENSG00000101751:ENST00000579434:exon3:c.G249T:p.Q83H;ENSG00000101751:ENST00000579534:exon4:c.G558T:p.Q186H;ENSG00000101751:ENST00000217800:exon3:c.G180T:p.Q60H;ENSG00000101751:ENST00000583136:exon4:c.G354T:p.Q118H;	8.49167856749257E-4	0.092
18	51804225	T	A	18	54277855	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.T559A:p.S187T;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.T559A:p.C187S;ENSG00000101751:ENST00000580880:exon3:c.T250A:p.S84T;ENSG00000101751:ENST00000579434:exon3:c.T250A:p.S84T;ENSG00000101751:ENST00000579534:exon4:c.T559A:p.S187T;ENSG00000101751:ENST00000217800:exon3:c.T181A:p.S61T;ENSG00000101751:ENST00000583136:exon4:c.T355A:p.S119T;	9.06992066043363E-5	0.006
18	51804225	T	C	18	54277855	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.T559C:p.S187P;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.T559C:p.C187R;ENSG00000101751:ENST00000580880:exon3:c.T250C:p.S84P;ENSG00000101751:ENST00000579434:exon3:c.T250C:p.S84P;ENSG00000101751:ENST00000579534:exon4:c.T559C:p.S187P;ENSG00000101751:ENST00000217800:exon3:c.T181C:p.S61P;ENSG00000101751:ENST00000583136:exon4:c.T355C:p.S119P;	8.45205741624455E-5	0.1
18	51804225	T	G	18	54277855	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon4:c.T559G:p.S187A;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon4:c.T559G:p.C187G;ENSG00000101751:ENST00000580880:exon3:c.T250G:p.S84A;ENSG00000101751:ENST00000579434:exon3:c.T250G:p.S84A;ENSG00000101751:ENST00000579534:exon4:c.T559G:p.S187A;ENSG00000101751:ENST00000217800:exon3:c.T181G:p.S61A;ENSG00000101751:ENST00000583136:exon4:c.T355G:p.S119A;	3.64980602665459E-4	0.078
18	51804226	G	A	18	54277856	y	y	splicing	POLI(NM_007195:exon4:c.559+1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.559+1G>A;ENST00000406285:exon4:c.559+1G>A;ENST00000577612:exon3:c.429+1G>A;ENST00000579434:exon3:c.250+1G>A;ENST00000583136:exon4:c.355+1G>A;ENST00000217800:exon3:c.181+1G>A;ENST00000580880:exon3:c.250+1G>A)	.	.	0.999986675681007	0.93
18	51804226	G	C	18	54277856	y	y	splicing	POLI(NM_007195:exon4:c.559+1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.559+1G>C;ENST00000406285:exon4:c.559+1G>C;ENST00000577612:exon3:c.429+1G>C;ENST00000579434:exon3:c.250+1G>C;ENST00000583136:exon4:c.355+1G>C;ENST00000217800:exon3:c.181+1G>C;ENST00000580880:exon3:c.250+1G>C)	.	.	0.999986675681007	0.93
18	51804226	G	T	18	54277856	y	y	splicing	POLI(NM_007195:exon4:c.559+1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.559+1G>T;ENST00000406285:exon4:c.559+1G>T;ENST00000577612:exon3:c.429+1G>T;ENST00000579434:exon3:c.250+1G>T;ENST00000583136:exon4:c.355+1G>T;ENST00000217800:exon3:c.181+1G>T;ENST00000580880:exon3:c.250+1G>T)	.	.	0.999986675681007	0.93
18	51804227	T	A	18	54277857	y	y	splicing	POLI(NM_007195:exon4:c.559+2T>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.559+2T>A;ENST00000406285:exon4:c.559+2T>A;ENST00000577612:exon3:c.429+2T>A;ENST00000579434:exon3:c.250+2T>A;ENST00000583136:exon4:c.355+2T>A;ENST00000217800:exon3:c.181+2T>A;ENST00000580880:exon3:c.250+2T>A)	.	.	0.999988247793601	0.926
18	51804227	T	C	18	54277857	y	y	splicing	POLI(NM_007195:exon4:c.559+2T>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.559+2T>C;ENST00000406285:exon4:c.559+2T>C;ENST00000577612:exon3:c.429+2T>C;ENST00000579434:exon3:c.250+2T>C;ENST00000583136:exon4:c.355+2T>C;ENST00000217800:exon3:c.181+2T>C;ENST00000580880:exon3:c.250+2T>C)	.	.	0.999943260809542	0.88
18	51804227	T	G	18	54277857	y	y	splicing	POLI(NM_007195:exon4:c.559+2T>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon4:c.559+2T>G;ENST00000406285:exon4:c.559+2T>G;ENST00000577612:exon3:c.429+2T>G;ENST00000579434:exon3:c.250+2T>G;ENST00000583136:exon4:c.355+2T>G;ENST00000217800:exon3:c.181+2T>G;ENST00000580880:exon3:c.250+2T>G)	.	.	0.999988247793601	0.926
18	51804228	G	A	18	54277858	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.19272128080596E-5	0.03
18	51804228	G	C	18	54277858	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.985649216349907	0.614
18	51804228	G	T	18	54277858	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.978835848957577	0.6
18	51804229	A	C	18	54277859	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.998959798683192	0.926
18	51804229	A	G	18	54277859	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999795011009546	0.944
18	51804229	A	T	18	54277859	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999783520922397	0.914
18	51804230	G	A	18	54277860	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999947396337889	0.994
18	51804230	G	C	18	54277860	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999964667335701	0.976
18	51804230	G	T	18	54277860	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999950749885653	0.986
18	51804231	T	A	18	54277861	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999463872526116	0.84
18	51804231	T	C	18	54277861	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.997585466827106	0.992
18	51804231	T	G	18	54277861	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.998990884145031	0.912
18	51804232	G	A	18	54277862	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.15804455769873E-4	0.008
18	51804232	G	C	18	54277862	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.55482390626395E-4	0.04
18	51804232	G	T	18	54277862	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.67052441295848E-4	0.004
18	51804233	G	A	18	54277863	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.83926613519835E-4	0.0
18	51804233	G	C	18	54277863	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.87083489444227E-4	0.002
18	51804233	G	T	18	54277863	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.26473499995288E-4	0.004
18	51807025	T	A	18	54280655	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00853598844255063	0.17
18	51807025	T	C	18	54280655	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.73192833601034E-4	0.028
18	51807025	T	G	18	54280655	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00360249595333866	0.15
18	51807026	T	A	18	54280656	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999730456618914	0.954
18	51807026	T	C	18	54280656	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.55669030939984E-4	0.032
18	51807026	T	G	18	54280656	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.129334596281655	0.484
18	51807027	G	A	18	54280657	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.29501800772988E-5	0.004
18	51807027	G	C	18	54280657	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.75878063158624E-5	0.006
18	51807027	G	T	18	54280657	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.11118809559795E-5	0.01
18	51807028	T	A	18	54280658	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0808009771203496	0.446
18	51807028	T	C	18	54280658	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00136566469782711	0.04
18	51807028	T	G	18	54280658	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0281534856591398	0.392
18	51807029	T	A	18	54280659	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.185255171216763	0.442
18	51807029	T	C	18	54280659	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.52489548237809E-4	0.016
18	51807029	T	G	18	54280659	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0236028127980368	0.32
18	51807030	T	A	18	54280660	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.794543462327409	0.646
18	51807030	T	C	18	54280660	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00105315730385435	0.098
18	51807030	T	G	18	54280660	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.2649191245109	0.366
18	51807031	T	A	18	54280661	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.990200055946207	0.628
18	51807031	T	C	18	54280661	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00612002724670348	0.192
18	51807031	T	G	18	54280661	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.994121823380842	0.678
18	51807032	T	A	18	54280662	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.461785401334227	0.456
18	51807032	T	C	18	54280662	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00115930257906497	0.096
18	51807032	T	G	18	54280662	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.75144867122206	0.54
18	51807033	A	C	18	54280663	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.45847900171012E-5	0.062
18	51807033	A	G	18	54280663	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.74222004102314E-5	0.024
18	51807033	A	T	18	54280663	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.85927536387196E-5	0.006
18	51807034	A	C	18	54280664	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.78014306707124E-5	0.024
18	51807034	A	G	18	54280664	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.120431046379964	0.436
18	51807034	A	T	18	54280664	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.20543378537447E-5	0.0
18	51807035	A	C	18	54280665	y	y	splicing	POLI(NM_007195:exon5:c.560-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.560-2A>C;ENST00000577612:exon4:c.430-2A>C;ENST00000579434:exon4:c.251-2A>C;ENST00000583136:exon5:c.356-2A>C;ENST00000217800:exon4:c.182-2A>C;ENST00000580880:exon4:c.251-2A>C)	.	.	0.999980255680118	0.788
18	51807035	A	G	18	54280665	y	y	splicing	POLI(NM_007195:exon5:c.560-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.560-2A>G;ENST00000577612:exon4:c.430-2A>G;ENST00000579434:exon4:c.251-2A>G;ENST00000583136:exon5:c.356-2A>G;ENST00000217800:exon4:c.182-2A>G;ENST00000580880:exon4:c.251-2A>G)	.	.	0.999980255680118	0.782
18	51807035	A	T	18	54280665	y	y	splicing	POLI(NM_007195:exon5:c.560-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.560-2A>T;ENST00000577612:exon4:c.430-2A>T;ENST00000579434:exon4:c.251-2A>T;ENST00000583136:exon5:c.356-2A>T;ENST00000217800:exon4:c.182-2A>T;ENST00000580880:exon4:c.251-2A>T)	.	.	0.999962958601995	0.808
18	51807036	G	A	18	54280666	y	y	splicing	POLI(NM_007195:exon5:c.560-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.560-1G>A;ENST00000577612:exon4:c.430-1G>A;ENST00000579434:exon4:c.251-1G>A;ENST00000583136:exon5:c.356-1G>A;ENST00000217800:exon4:c.182-1G>A;ENST00000580880:exon4:c.251-1G>A)	.	.	0.999970205305079	0.936
18	51807036	G	C	18	54280666	y	y	splicing	POLI(NM_007195:exon5:c.560-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.560-1G>C;ENST00000577612:exon4:c.430-1G>C;ENST00000579434:exon4:c.251-1G>C;ENST00000583136:exon5:c.356-1G>C;ENST00000217800:exon4:c.182-1G>C;ENST00000580880:exon4:c.251-1G>C)	.	.	0.999976475802857	0.91
18	51807036	G	T	18	54280666	y	y	splicing	POLI(NM_007195:exon5:c.560-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.560-1G>T;ENST00000577612:exon4:c.430-1G>T;ENST00000579434:exon4:c.251-1G>T;ENST00000583136:exon5:c.356-1G>T;ENST00000217800:exon4:c.182-1G>T;ENST00000580880:exon4:c.251-1G>T)	.	.	0.999960597114489	0.906
18	51807037	C	A	18	54280667	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.C560A:p.S187Y;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000580880:exon4:c.C251A:p.S84Y;ENSG00000101751:ENST00000579434:exon4:c.C251A:p.S84Y;ENSG00000101751:ENST00000579534:exon5:c.C560A:p.S187Y;ENSG00000101751:ENST00000217800:exon4:c.C182A:p.S61Y;ENSG00000101751:ENST00000583136:exon5:c.C356A:p.S119Y;	4.66466358173388E-5	0.002
18	51807037	C	G	18	54280667	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.C560G:p.S187C;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000580880:exon4:c.C251G:p.S84C;ENSG00000101751:ENST00000579434:exon4:c.C251G:p.S84C;ENSG00000101751:ENST00000579534:exon5:c.C560G:p.S187C;ENSG00000101751:ENST00000217800:exon4:c.C182G:p.S61C;ENSG00000101751:ENST00000583136:exon5:c.C356G:p.S119C;	4.51352319625112E-4	0.116
18	51807037	C	T	18	54280667	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.C560T:p.S187F;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000580880:exon4:c.C251T:p.S84F;ENSG00000101751:ENST00000579434:exon4:c.C251T:p.S84F;ENSG00000101751:ENST00000579534:exon5:c.C560T:p.S187F;ENSG00000101751:ENST00000217800:exon4:c.C182T:p.S61F;ENSG00000101751:ENST00000583136:exon5:c.C356T:p.S119F;	0.00117109333173639	0.042
18	51807038	T	A	18	54280668	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon5:c.T561A:p.S187S;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000580880:exon4:c.T252A:p.S84S;ENSG00000101751:ENST00000579434:exon4:c.T252A:p.S84S;ENSG00000101751:ENST00000579534:exon5:c.T561A:p.S187S;ENSG00000101751:ENST00000217800:exon4:c.T183A:p.S61S;ENSG00000101751:ENST00000583136:exon5:c.T357A:p.S119S;	9.46008291080192E-4	0.064
18	51807038	T	C	18	54280668	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon5:c.T561C:p.S187S;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000580880:exon4:c.T252C:p.S84S;ENSG00000101751:ENST00000579434:exon4:c.T252C:p.S84S;ENSG00000101751:ENST00000579534:exon5:c.T561C:p.S187S;ENSG00000101751:ENST00000217800:exon4:c.T183C:p.S61S;ENSG00000101751:ENST00000583136:exon5:c.T357C:p.S119S;	0.00178586995953883	0.078
18	51807038	T	G	18	54280668	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon5:c.T561G:p.S187S;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000580880:exon4:c.T252G:p.S84S;ENSG00000101751:ENST00000579434:exon4:c.T252G:p.S84S;ENSG00000101751:ENST00000579534:exon5:c.T561G:p.S187S;ENSG00000101751:ENST00000217800:exon4:c.T183G:p.S61S;ENSG00000101751:ENST00000583136:exon5:c.T357G:p.S119S;	0.00154550889367686	0.044
18	51807271	C	A	18	54280901	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.C794A:p.P265H;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.C485A:p.P162H;ENSG00000101751:ENST00000579534:exon5:c.C794A:p.P265H;ENSG00000101751:ENST00000217800:exon4:c.C416A:p.P139H;ENSG00000101751:ENST00000583136:exon5:c.C590A:p.P197H;	0.921777997365924	0.694
18	51807271	C	G	18	54280901	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.C794G:p.P265R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.C485G:p.P162R;ENSG00000101751:ENST00000579534:exon5:c.C794G:p.P265R;ENSG00000101751:ENST00000217800:exon4:c.C416G:p.P139R;ENSG00000101751:ENST00000583136:exon5:c.C590G:p.P197R;	0.858629566790584	0.56
18	51807271	C	T	18	54280901	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.C794T:p.P265L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.C485T:p.P162L;ENSG00000101751:ENST00000579534:exon5:c.C794T:p.P265L;ENSG00000101751:ENST00000217800:exon4:c.C416T:p.P139L;ENSG00000101751:ENST00000583136:exon5:c.C590T:p.P197L;	0.997549991371613	0.586
18	51807272	T	A	18	54280902	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon5:c.T795A:p.P265P;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.T486A:p.P162P;ENSG00000101751:ENST00000579534:exon5:c.T795A:p.P265P;ENSG00000101751:ENST00000217800:exon4:c.T417A:p.P139P;ENSG00000101751:ENST00000583136:exon5:c.T591A:p.P197P;	2.10427598124355E-4	0.126
18	51807272	T	C	18	54280902	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon5:c.T795C:p.P265P;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.T486C:p.P162P;ENSG00000101751:ENST00000579534:exon5:c.T795C:p.P265P;ENSG00000101751:ENST00000217800:exon4:c.T417C:p.P139P;ENSG00000101751:ENST00000583136:exon5:c.T591C:p.P197P;	7.15836828316E-4	0.024
18	51807272	T	G	18	54280902	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon5:c.T795G:p.P265P;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.T486G:p.P162P;ENSG00000101751:ENST00000579534:exon5:c.T795G:p.P265P;ENSG00000101751:ENST00000217800:exon4:c.T417G:p.P139P;ENSG00000101751:ENST00000583136:exon5:c.T591G:p.P197P;	0.00122547613371271	0.036
18	51807273	G	A	18	54280903	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.G796A:p.G266S;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.G487A:p.G163S;ENSG00000101751:ENST00000579534:exon5:c.G796A:p.G266S;ENSG00000101751:ENST00000217800:exon4:c.G418A:p.G140S;ENSG00000101751:ENST00000583136:exon5:c.G592A:p.G198S;	0.99995831070962	0.998
18	51807273	G	C	18	54280903	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.G796C:p.G266R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.G487C:p.G163R;ENSG00000101751:ENST00000579534:exon5:c.G796C:p.G266R;ENSG00000101751:ENST00000217800:exon4:c.G418C:p.G140R;ENSG00000101751:ENST00000583136:exon5:c.G592C:p.G198R;	0.99998727652452	0.976
18	51807273	G	T	18	54280903	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon5:c.G796T:p.G266C;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000579434:exon4:c.G487T:p.G163C;ENSG00000101751:ENST00000579534:exon5:c.G796T:p.G266C;ENSG00000101751:ENST00000217800:exon4:c.G418T:p.G140C;ENSG00000101751:ENST00000583136:exon5:c.G592T:p.G198C;	0.999963110638157	0.978
18	51807274	G	A	18	54280904	y	y	splicing	POLI(NM_007195:exon5:c.796+1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.796+1G>A;ENST00000579434:exon4:c.487+1G>A;ENST00000583136:exon5:c.592+1G>A;ENST00000217800:exon4:c.418+1G>A)	.	.	0.999990361384395	0.938
18	51807274	G	C	18	54280904	y	y	splicing	POLI(NM_007195:exon5:c.796+1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.796+1G>C;ENST00000579434:exon4:c.487+1G>C;ENST00000583136:exon5:c.592+1G>C;ENST00000217800:exon4:c.418+1G>C)	.	.	0.999990361384395	0.938
18	51807274	G	T	18	54280904	y	y	splicing	POLI(NM_007195:exon5:c.796+1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.796+1G>T;ENST00000579434:exon4:c.487+1G>T;ENST00000583136:exon5:c.592+1G>T;ENST00000217800:exon4:c.418+1G>T)	.	.	0.999990361384395	0.938
18	51807275	T	A	18	54280905	y	y	splicing	POLI(NM_007195:exon5:c.796+2T>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.796+2T>A;ENST00000579434:exon4:c.487+2T>A;ENST00000583136:exon5:c.592+2T>A;ENST00000217800:exon4:c.418+2T>A)	.	.	0.999988247793601	0.93
18	51807275	T	C	18	54280905	y	y	splicing	POLI(NM_007195:exon5:c.796+2T>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.796+2T>C;ENST00000579434:exon4:c.487+2T>C;ENST00000583136:exon5:c.592+2T>C;ENST00000217800:exon4:c.418+2T>C)	.	.	0.99991522016916	0.894
18	51807275	T	G	18	54280905	y	y	splicing	POLI(NM_007195:exon5:c.796+2T>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon5:c.796+2T>G;ENST00000579434:exon4:c.487+2T>G;ENST00000583136:exon5:c.592+2T>G;ENST00000217800:exon4:c.418+2T>G)	.	.	0.999988247793601	0.93
18	51807276	A	C	18	54280906	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.99894474288151	0.974
18	51807276	A	G	18	54280906	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.945978507630609	0.646
18	51807276	A	T	18	54280906	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.998798890189355	0.956
18	51807277	A	C	18	54280907	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.984294405077919	0.766
18	51807277	A	G	18	54280907	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.989100640919877	0.832
18	51807277	A	T	18	54280907	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.98796680804888	0.8
18	51807278	G	A	18	54280908	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999920543660024	0.886
18	51807278	G	C	18	54280908	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999922900026137	0.984
18	51807278	G	T	18	54280908	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999881325688066	0.9
18	51807279	A	C	18	54280909	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.011847929886875	0.152
18	51807279	A	G	18	54280909	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00278364305442185	0.018
18	51807279	A	T	18	54280909	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00238535088869419	0.01
18	51807280	C	A	18	54280910	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.82094067339917E-5	0.0
18	51807280	C	G	18	54280910	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.82094067339917E-5	0.0
18	51807280	C	T	18	54280910	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.82094067339917E-5	0.0
18	51807281	A	C	18	54280911	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.3995392500311E-5	0.0
18	51807281	A	G	18	54280911	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.455930068921E-5	0.0
18	51807281	A	T	18	54280911	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.5908222467397E-5	0.0
18	51809195	C	A	18	54282825	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.0323559620347E-5	0.008
18	51809195	C	G	18	54282825	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.2519189393808E-5	0.014
18	51809195	C	T	18	54282825	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.18091513679622E-5	0.0
18	51809196	T	A	18	54282826	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00413176366391546	0.288
18	51809196	T	C	18	54282826	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00493810278350167	0.078
18	51809196	T	G	18	54282826	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00290223225044335	0.306
18	51809197	T	A	18	54282827	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00160158516512961	0.09
18	51809197	T	C	18	54282827	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.07522744558152E-4	0.02
18	51809197	T	G	18	54282827	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00271342337358093	0.096
18	51809198	T	A	18	54282828	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00410487236518997	0.124
18	51809198	T	C	18	54282828	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.15776198578569E-4	0.038
18	51809198	T	G	18	54282828	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00149766645549916	0.152
18	51809199	T	A	18	54282829	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00146478812052711	0.062
18	51809199	T	C	18	54282829	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.74685962693281E-4	0.002
18	51809199	T	G	18	54282829	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.62352073810891E-4	0.048
18	51809200	T	A	18	54282830	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00156480462942844	0.086
18	51809200	T	C	18	54282830	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.11526229840554E-4	0.01
18	51809200	T	G	18	54282830	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.68215012943884E-4	0.09
18	51809201	A	C	18	54282831	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.23764906839154E-5	0.0
18	51809201	A	G	18	54282831	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.53941894664419E-4	0.018
18	51809201	A	T	18	54282831	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.86218205258644E-5	0.004
18	51809202	T	A	18	54282832	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.2650503357753E-4	0.15
18	51809202	T	C	18	54282832	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.03561874223359E-4	0.01
18	51809202	T	G	18	54282832	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999800943185258	0.924
18	51809203	T	A	18	54282833	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00355671019451923	0.062
18	51809203	T	C	18	54282833	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.00278611876468E-4	0.016
18	51809203	T	G	18	54282833	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00130165392907728	0.056
18	51809204	T	A	18	54282834	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.227849235436228	0.31
18	51809204	T	C	18	54282834	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.95918011749787E-4	0.026
18	51809204	T	G	18	54282834	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999703356406812	0.83
18	51809205	A	C	18	54282835	y	y	splicing	POLI(NM_007195:exon6:c.797-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.797-2A>C;ENST00000406285:exon5:c.560-2A>C;ENST00000579434:exon5:c.488-2A>C;ENST00000583136:exon6:c.593-2A>C;ENST00000217800:exon5:c.419-2A>C)	.	.	0.999988247793601	0.928
18	51809205	A	G	18	54282835	y	y	splicing	POLI(NM_007195:exon6:c.797-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.797-2A>G;ENST00000406285:exon5:c.560-2A>G;ENST00000579434:exon5:c.488-2A>G;ENST00000583136:exon6:c.593-2A>G;ENST00000217800:exon5:c.419-2A>G)	.	.	0.999988247793601	0.928
18	51809205	A	T	18	54282835	y	y	splicing	POLI(NM_007195:exon6:c.797-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.797-2A>T;ENST00000406285:exon5:c.560-2A>T;ENST00000579434:exon5:c.488-2A>T;ENST00000583136:exon6:c.593-2A>T;ENST00000217800:exon5:c.419-2A>T)	.	.	0.999988247793601	0.928
18	51809206	G	A	18	54282836	y	y	splicing	POLI(NM_007195:exon6:c.797-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.797-1G>A;ENST00000406285:exon5:c.560-1G>A;ENST00000579434:exon5:c.488-1G>A;ENST00000583136:exon6:c.593-1G>A;ENST00000217800:exon5:c.419-1G>A)	.	.	0.999990361384395	0.938
18	51809206	G	C	18	54282836	y	y	splicing	POLI(NM_007195:exon6:c.797-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.797-1G>C;ENST00000406285:exon5:c.560-1G>C;ENST00000579434:exon5:c.488-1G>C;ENST00000583136:exon6:c.593-1G>C;ENST00000217800:exon5:c.419-1G>C)	.	.	0.999990361384395	0.936
18	51809206	G	T	18	54282836	y	y	splicing	POLI(NM_007195:exon6:c.797-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.797-1G>T;ENST00000406285:exon5:c.560-1G>T;ENST00000579434:exon5:c.488-1G>T;ENST00000583136:exon6:c.593-1G>T;ENST00000217800:exon5:c.419-1G>T)	.	.	0.999990361384395	0.936
18	51809207	G	A	18	54282837	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.G797A:p.G266D;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.G560A:p.C187Y;ENSG00000101751:ENST00000579434:exon5:c.G488A:p.G163D;ENSG00000101751:ENST00000579534:exon6:c.G797A:p.G266D;ENSG00000101751:ENST00000217800:exon5:c.G419A:p.G140D;ENSG00000101751:ENST00000583136:exon6:c.G593A:p.G198D;	0.996046595886534	0.8
18	51809207	G	C	18	54282837	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.G797C:p.G266A;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.G560C:p.C187S;ENSG00000101751:ENST00000579434:exon5:c.G488C:p.G163A;ENSG00000101751:ENST00000579534:exon6:c.G797C:p.G266A;ENSG00000101751:ENST00000217800:exon5:c.G419C:p.G140A;ENSG00000101751:ENST00000583136:exon6:c.G593C:p.G198A;	0.999353370432683	0.856
18	51809207	G	T	18	54282837	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.G797T:p.G266V;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.G560T:p.C187F;ENSG00000101751:ENST00000579434:exon5:c.G488T:p.G163V;ENSG00000101751:ENST00000579534:exon6:c.G797T:p.G266V;ENSG00000101751:ENST00000217800:exon5:c.G419T:p.G140V;ENSG00000101751:ENST00000583136:exon6:c.G593T:p.G198V;	0.99921973304303	0.928
18	51809208	T	A	18	54282838	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon6:c.T798A:p.G266G;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon5:c.T561A:p.C187X;	0.0095306540453688	0.238
18	51809208	T	C	18	54282838	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon6:c.T798C:p.G266G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.T561C:p.C187C;ENSG00000101751:ENST00000579434:exon5:c.T489C:p.G163G;ENSG00000101751:ENST00000579534:exon6:c.T798C:p.G266G;ENSG00000101751:ENST00000217800:exon5:c.T420C:p.G140G;ENSG00000101751:ENST00000583136:exon6:c.T594C:p.G198G;	0.001432051825621	0.038
18	51809208	T	G	18	54282838	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon6:c.T798G:p.G266G;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.T561G:p.C187W;	0.0106352471418624	0.048
18	51809383	C	A	18	54283013	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.C973A:p.Q325K;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.C736A:p.Q246K;ENSG00000101751:ENST00000579434:exon5:c.C664A:p.Q222K;ENSG00000101751:ENST00000579534:exon6:c.C973A:p.Q325K;ENSG00000101751:ENST00000217800:exon5:c.C595A:p.Q199K;ENSG00000101751:ENST00000585023:exon1:c.C154A:p.Q52K;ENSG00000101751:ENST00000581950:exon1:c.C160A:p.Q54K;	0.917680816846291	0.72
18	51809383	C	G	18	54283013	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.C973G:p.Q325E;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.C736G:p.Q246E;ENSG00000101751:ENST00000579434:exon5:c.C664G:p.Q222E;ENSG00000101751:ENST00000579534:exon6:c.C973G:p.Q325E;ENSG00000101751:ENST00000217800:exon5:c.C595G:p.Q199E;ENSG00000101751:ENST00000585023:exon1:c.C154G:p.Q52E;ENSG00000101751:ENST00000581950:exon1:c.C160G:p.Q54E;	0.962670954606436	0.65
18	51809383	C	T	18	54283013	y	y	exonic	POLI	stopgain SNV	POLI:NM_007195:exon6:c.C973T:p.Q325X;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon5:c.C736T:p.Q246X;ENSG00000101751:ENST00000579434:exon5:c.C664T:p.Q222X;ENSG00000101751:ENST00000579534:exon6:c.C973T:p.Q325X;ENSG00000101751:ENST00000217800:exon5:c.C595T:p.Q199X;ENSG00000101751:ENST00000585023:exon1:c.C154T:p.Q52X;ENSG00000101751:ENST00000581950:exon1:c.C160T:p.Q54X;	0.998104717249403	0.848
18	51809384	A	C	18	54283014	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.A974C:p.Q325P;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.A737C:p.Q246P;ENSG00000101751:ENST00000579434:exon5:c.A665C:p.Q222P;ENSG00000101751:ENST00000579534:exon6:c.A974C:p.Q325P;ENSG00000101751:ENST00000217800:exon5:c.A596C:p.Q199P;ENSG00000101751:ENST00000585023:exon1:c.A155C:p.Q52P;ENSG00000101751:ENST00000581950:exon1:c.A161C:p.Q54P;	0.999215850001886	0.994
18	51809384	A	G	18	54283014	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.A974G:p.Q325R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.A737G:p.Q246R;ENSG00000101751:ENST00000579434:exon5:c.A665G:p.Q222R;ENSG00000101751:ENST00000579534:exon6:c.A974G:p.Q325R;ENSG00000101751:ENST00000217800:exon5:c.A596G:p.Q199R;ENSG00000101751:ENST00000585023:exon1:c.A155G:p.Q52R;ENSG00000101751:ENST00000581950:exon1:c.A161G:p.Q54R;	0.999326586151368	0.994
18	51809384	A	T	18	54283014	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.A974T:p.Q325L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.A737T:p.Q246L;ENSG00000101751:ENST00000579434:exon5:c.A665T:p.Q222L;ENSG00000101751:ENST00000579534:exon6:c.A974T:p.Q325L;ENSG00000101751:ENST00000217800:exon5:c.A596T:p.Q199L;ENSG00000101751:ENST00000585023:exon1:c.A155T:p.Q52L;ENSG00000101751:ENST00000581950:exon1:c.A161T:p.Q54L;	0.999822470939463	0.982
18	51809385	G	A	18	54283015	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon6:c.G975A:p.Q325Q;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.G738A:p.Q246Q;ENSG00000101751:ENST00000579434:exon5:c.G666A:p.Q222Q;ENSG00000101751:ENST00000579534:exon6:c.G975A:p.Q325Q;ENSG00000101751:ENST00000217800:exon5:c.G597A:p.Q199Q;ENSG00000101751:ENST00000585023:exon1:c.G156A:p.Q52Q;ENSG00000101751:ENST00000581950:exon1:c.G162A:p.Q54Q;	0.999979431230581	0.984
18	51809385	G	C	18	54283015	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.G975C:p.Q325H;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.G738C:p.Q246H;ENSG00000101751:ENST00000579434:exon5:c.G666C:p.Q222H;ENSG00000101751:ENST00000579534:exon6:c.G975C:p.Q325H;ENSG00000101751:ENST00000217800:exon5:c.G597C:p.Q199H;ENSG00000101751:ENST00000585023:exon1:c.G156C:p.Q52H;ENSG00000101751:ENST00000581950:exon1:c.G162C:p.Q54H;	0.999991329062894	0.994
18	51809385	G	T	18	54283015	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon6:c.G975T:p.Q325H;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon5:c.G738T:p.Q246H;ENSG00000101751:ENST00000579434:exon5:c.G666T:p.Q222H;ENSG00000101751:ENST00000579534:exon6:c.G975T:p.Q325H;ENSG00000101751:ENST00000217800:exon5:c.G597T:p.Q199H;ENSG00000101751:ENST00000585023:exon1:c.G156T:p.Q52H;ENSG00000101751:ENST00000581950:exon1:c.G162T:p.Q54H;	0.999957693930181	1.0
18	51809386	G	A	18	54283016	y	y	splicing	POLI(NM_007195:exon6:c.975+1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.975+1G>A;ENST00000406285:exon5:c.738+1G>A;ENST00000579434:exon5:c.666+1G>A;ENST00000217800:exon5:c.597+1G>A;ENST00000581950:exon1:c.162+1G>A;ENST00000585023:exon1:c.156+1G>A;ENST00000579823:exon1:c.110+1G>A)	.	.	0.999990361384395	0.934
18	51809386	G	C	18	54283016	y	y	splicing	POLI(NM_007195:exon6:c.975+1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.975+1G>C;ENST00000406285:exon5:c.738+1G>C;ENST00000579434:exon5:c.666+1G>C;ENST00000217800:exon5:c.597+1G>C;ENST00000581950:exon1:c.162+1G>C;ENST00000585023:exon1:c.156+1G>C;ENST00000579823:exon1:c.110+1G>C)	.	.	0.999990361384395	0.926
18	51809386	G	T	18	54283016	y	y	splicing	POLI(NM_007195:exon6:c.975+1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.975+1G>T;ENST00000406285:exon5:c.738+1G>T;ENST00000579434:exon5:c.666+1G>T;ENST00000217800:exon5:c.597+1G>T;ENST00000581950:exon1:c.162+1G>T;ENST00000585023:exon1:c.156+1G>T;ENST00000579823:exon1:c.110+1G>T)	.	.	0.999990361384395	0.934
18	51809387	T	A	18	54283017	y	y	splicing	POLI(NM_007195:exon6:c.975+2T>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.975+2T>A;ENST00000406285:exon5:c.738+2T>A;ENST00000579434:exon5:c.666+2T>A;ENST00000217800:exon5:c.597+2T>A;ENST00000581950:exon1:c.162+2T>A;ENST00000585023:exon1:c.156+2T>A;ENST00000579823:exon1:c.110+2T>A)	.	.	0.999988247793601	0.93
18	51809387	T	C	18	54283017	y	y	splicing	POLI(NM_007195:exon6:c.975+2T>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.975+2T>C;ENST00000406285:exon5:c.738+2T>C;ENST00000579434:exon5:c.666+2T>C;ENST00000217800:exon5:c.597+2T>C;ENST00000581950:exon1:c.162+2T>C;ENST00000585023:exon1:c.156+2T>C;ENST00000579823:exon1:c.110+2T>C)	.	.	0.988163425542712	0.66
18	51809387	T	G	18	54283017	y	y	splicing	POLI(NM_007195:exon6:c.975+2T>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon6:c.975+2T>G;ENST00000406285:exon5:c.738+2T>G;ENST00000579434:exon5:c.666+2T>G;ENST00000217800:exon5:c.597+2T>G;ENST00000581950:exon1:c.162+2T>G;ENST00000585023:exon1:c.156+2T>G;ENST00000579823:exon1:c.110+2T>G)	.	.	0.999988247793601	0.93
18	51809388	A	C	18	54283018	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999569804095957	0.794
18	51809388	A	G	18	54283018	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.865581442064487	0.66
18	51809388	A	T	18	54283018	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.994484840912667	0.734
18	51809389	C	A	18	54283019	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.45946964762049E-5	0.016
18	51809389	C	G	18	54283019	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.10616144787402E-4	0.022
18	51809389	C	T	18	54283019	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00195349528022798	0.034
18	51809390	A	C	18	54283020	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.71339946804966E-4	0.076
18	51809390	A	G	18	54283020	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.71823151936739E-5	0.018
18	51809390	A	T	18	54283020	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.41164514079451E-5	0.028
18	51809391	T	A	18	54283021	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.8594668122703E-4	0.062
18	51809391	T	C	18	54283021	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.39023478516684E-4	0.104
18	51809391	T	G	18	54283021	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.10774107588392E-4	0.098
18	51809392	G	A	18	54283022	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.69472462972064E-4	0.002
18	51809392	G	C	18	54283022	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.50845722259914E-4	0.002
18	51809392	G	T	18	54283022	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.22751085239585E-5	0.0
18	51809393	A	C	18	54283023	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.78389654127837E-5	0.0
18	51809393	A	G	18	54283023	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0012286044593115	0.008
18	51809393	A	T	18	54283023	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.78389654127837E-5	0.0
18	51810101	T	A	18	54283731	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.68284073685752E-5	0.004
18	51810101	T	C	18	54283731	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.68284073685752E-5	0.004
18	51810101	T	G	18	54283731	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.68284073685752E-5	0.004
18	51810102	T	A	18	54283732	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.89484418870929E-5	0.004
18	51810102	T	C	18	54283732	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.68284073685752E-5	0.004
18	51810102	T	G	18	54283732	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.68284073685752E-5	0.004
18	51810103	A	C	18	54283733	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.89484418870929E-5	0.004
18	51810103	A	G	18	54283733	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.89484418870929E-5	0.004
18	51810103	A	T	18	54283733	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.87125311119806E-5	0.012
18	51810104	A	C	18	54283734	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.98542968807727E-4	0.028
18	51810104	A	G	18	54283734	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.98542968807727E-4	0.028
18	51810104	A	T	18	54283734	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.86867110297081E-4	0.028
18	51810105	C	A	18	54283735	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.23670744562471E-4	0.0
18	51810105	C	G	18	54283735	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.74480241737554E-4	0.0
18	51810105	C	T	18	54283735	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.23670744562471E-4	0.0
18	51810106	T	A	18	54283736	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.85062238621114E-5	0.004
18	51810106	T	C	18	54283736	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.44656497212392E-5	0.004
18	51810106	T	G	18	54283736	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.44656497212392E-5	0.004
18	51810107	T	A	18	54283737	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.71108049909453E-5	0.016
18	51810107	T	C	18	54283737	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.71108049909453E-5	0.016
18	51810107	T	G	18	54283737	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.71108049909453E-5	0.016
18	51810108	T	A	18	54283738	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.86099939267747E-5	0.038
18	51810108	T	C	18	54283738	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.86099939267747E-5	0.038
18	51810108	T	G	18	54283738	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.86099939267747E-5	0.038
18	51810109	C	A	18	54283739	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.62279994356454E-5	0.014
18	51810109	C	G	18	54283739	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.62279994356454E-5	0.01
18	51810109	C	T	18	54283739	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.58461283867531E-5	0.01
18	51810110	T	A	18	54283740	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.99263190704948E-5	0.0
18	51810110	T	C	18	54283740	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.84729574776877E-5	0.0
18	51810110	T	G	18	54283740	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.84729574776877E-5	0.0
18	51810111	A	C	18	54283741	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.157-2A>C)	.	.	1.27145488438373E-5	0.0
18	51810111	A	G	18	54283741	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.157-2A>G)	.	.	1.27145488438373E-5	0.0
18	51810111	A	T	18	54283741	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.157-2A>T)	.	.	3.0180149904064E-5	0.0
18	51810112	G	A	18	54283742	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.157-1G>A)	.	.	3.00286289604843E-5	0.002
18	51810112	G	C	18	54283742	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.157-1G>C)	.	.	1.94405013182015E-5	0.002
18	51810112	G	T	18	54283742	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.157-1G>T)	.	.	1.94405013182015E-5	0.002
18	51810113	T	A	18	54283743	n	y	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000585023:exon2:c.T157A:p.X53R;	1.47245233660068E-5	0.008
18	51810113	T	C	18	54283743	n	y	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000585023:exon2:c.T157C:p.X53R;	1.47245233660068E-5	0.004
18	51810113	T	G	18	54283743	n	y	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000585023:exon2:c.T157G:p.X53G;	1.47245233660068E-5	0.004
18	51810114	G	A	18	54283744	n	y	intronic	POLI	.	.	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000585023:exon2:c.G158A:p.X53X;	3.57076726553018E-5	0.0
18	51810114	G	C	18	54283744	n	y	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000585023:exon2:c.G158C:p.X53S;	1.20695034961553E-5	0.004
18	51810114	G	T	18	54283744	n	y	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000585023:exon2:c.G158T:p.X53L;	1.20695034961553E-5	0.004
18	51810183	G	A	18	54283813	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	1.75124574382951E-4	0.018
18	51810183	G	C	18	54283813	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	1.21849983916653E-4	0.018
18	51810183	G	T	18	54283813	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	1.21849983916653E-4	0.018
18	51810184	A	C	18	54283814	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	0.00115282057099061	0.012
18	51810184	A	G	18	54283814	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	0.00115282057099061	0.012
18	51810184	A	T	18	54283814	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	0.00133465960783324	0.016
18	51810185	G	A	18	54283815	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	9.83014417619686E-5	0.014
18	51810185	G	C	18	54283815	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	5.79545962655506E-5	0.014
18	51810185	G	T	18	54283815	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	9.83014417619686E-5	0.014
18	51810186	G	A	18	54283816	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.229+1G>A)	.	.	4.6857887130806E-5	0.002
18	51810186	G	C	18	54283816	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.229+1G>C)	.	.	3.03359245426808E-5	0.002
18	51810186	G	T	18	54283816	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.229+1G>T)	.	.	3.03359245426808E-5	0.002
18	51810187	T	A	18	54283817	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.229+2T>A)	.	.	2.33815804894828E-5	0.0
18	51810187	T	C	18	54283817	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.229+2T>C)	.	.	4.24975915077222E-5	0.0
18	51810187	T	G	18	54283817	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000585023:exon2:c.229+2T>G)	.	.	4.24975915077222E-5	0.0
18	51810188	A	C	18	54283818	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.98542968807727E-4	0.016
18	51810188	A	G	18	54283818	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.98542968807727E-4	0.016
18	51810188	A	T	18	54283818	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.86867110297081E-4	0.05
18	51810189	A	C	18	54283819	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.12051756480288E-5	0.0
18	51810189	A	G	18	54283819	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.12051756480288E-5	0.0
18	51810189	A	T	18	54283819	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.12051756480288E-5	0.0
18	51810190	G	A	18	54283820	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.39331619859259E-4	0.014
18	51810190	G	C	18	54283820	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.23670744562471E-4	0.014
18	51810190	G	T	18	54283820	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.48902380108014E-4	0.014
18	51810191	T	A	18	54283821	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.36775662931485E-4	0.018
18	51810191	T	C	18	54283821	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.36775662931485E-4	0.016
18	51810191	T	G	18	54283821	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.36775662931485E-4	0.016
18	51810192	T	A	18	54283822	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.17975867789057E-4	0.01
18	51810192	T	C	18	54283822	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.22368055298326E-4	0.01
18	51810192	T	G	18	54283822	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.22368055298326E-4	0.01
18	51810193	A	C	18	54283823	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.29649089108586E-5	0.0
18	51810193	A	G	18	54283823	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.29649089108586E-5	0.0
18	51810193	A	T	18	54283823	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.49490637206397E-5	0.0
18	51810280	C	A	18	54283910	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00528802093592429	0.154
18	51810280	C	G	18	54283910	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0027735051360681	0.154
18	51810280	C	T	18	54283910	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.24094141462028E-4	0.006
18	51810281	T	A	18	54283911	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.996912920871835	0.802
18	51810281	T	C	18	54283911	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.152607914286945	0.37
18	51810281	T	G	18	54283911	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.950158087926812	0.724
18	51810282	T	A	18	54283912	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999521735096472	0.926
18	51810282	T	C	18	54283912	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.529549729460179	0.372
18	51810282	T	G	18	54283912	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999585845913894	0.918
18	51810283	C	A	18	54283913	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.136051338103829	0.342
18	51810283	C	G	18	54283913	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0524084054123507	0.176
18	51810283	C	T	18	54283913	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.22571660709937	0.398
18	51810284	T	A	18	54283914	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.14456457252975	0.442
18	51810284	T	C	18	54283914	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.09748656172478E-4	0.006
18	51810284	T	G	18	54283914	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.241816506838533	0.42
18	51810285	T	A	18	54283915	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.992470745154514	0.71
18	51810285	T	C	18	54283915	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00712699982885764	0.216
18	51810285	T	G	18	54283915	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.964301714650744	0.558
18	51810286	T	A	18	54283916	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999952640021041	0.968
18	51810286	T	C	18	54283916	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0794226674678601	0.282
18	51810286	T	G	18	54283916	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.991049941844609	0.778
18	51810287	G	A	18	54283917	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.06028290291897E-4	0.024
18	51810287	G	C	18	54283917	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00388429152346191	0.036
18	51810287	G	T	18	54283917	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00249018385150012	0.08
18	51810288	A	C	18	54283918	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.18760026236499E-4	0.0
18	51810288	A	G	18	54283918	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00285851005533983	0.216
18	51810288	A	T	18	54283918	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.99195476161124E-4	0.078
18	51810289	T	A	18	54283919	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.955149918475724	0.504
18	51810289	T	C	18	54283919	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.56258110980175E-5	0.008
18	51810289	T	G	18	54283919	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999678585532827	0.88
18	51810290	A	C	18	54283920	y	y	splicing	POLI(NM_007195:exon7:c.976-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon7:c.976-2A>C;ENST00000406285:exon6:c.739-2A>C;ENST00000579434:exon6:c.667-2A>C;ENST00000217800:exon6:c.598-2A>C;ENST00000581950:exon2:c.163-2A>C;ENST00000585023:exon3:c.230-2A>C;ENST00000579823:exon2:c.111-2A>C)	.	.	0.999988247793601	0.926
18	51810290	A	G	18	54283920	y	y	splicing	POLI(NM_007195:exon7:c.976-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon7:c.976-2A>G;ENST00000406285:exon6:c.739-2A>G;ENST00000579434:exon6:c.667-2A>G;ENST00000217800:exon6:c.598-2A>G;ENST00000581950:exon2:c.163-2A>G;ENST00000585023:exon3:c.230-2A>G;ENST00000579823:exon2:c.111-2A>G)	.	.	0.999988247793601	0.926
18	51810290	A	T	18	54283920	y	y	splicing	POLI(NM_007195:exon7:c.976-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon7:c.976-2A>T;ENST00000406285:exon6:c.739-2A>T;ENST00000579434:exon6:c.667-2A>T;ENST00000217800:exon6:c.598-2A>T;ENST00000581950:exon2:c.163-2A>T;ENST00000585023:exon3:c.230-2A>T;ENST00000579823:exon2:c.111-2A>T)	.	.	0.999988247793601	0.926
18	51810291	G	A	18	54283921	y	y	splicing	POLI(NM_007195:exon7:c.976-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon7:c.976-1G>A;ENST00000406285:exon6:c.739-1G>A;ENST00000579434:exon6:c.667-1G>A;ENST00000217800:exon6:c.598-1G>A;ENST00000581950:exon2:c.163-1G>A;ENST00000585023:exon3:c.230-1G>A;ENST00000579823:exon2:c.111-1G>A)	.	.	0.999985532734767	0.934
18	51810291	G	C	18	54283921	y	y	splicing	POLI(NM_007195:exon7:c.976-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon7:c.976-1G>C;ENST00000406285:exon6:c.739-1G>C;ENST00000579434:exon6:c.667-1G>C;ENST00000217800:exon6:c.598-1G>C;ENST00000581950:exon2:c.163-1G>C;ENST00000585023:exon3:c.230-1G>C;ENST00000579823:exon2:c.111-1G>C)	.	.	0.999985532734767	0.934
18	51810291	G	T	18	54283921	y	y	splicing	POLI(NM_007195:exon7:c.976-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon7:c.976-1G>T;ENST00000406285:exon6:c.739-1G>T;ENST00000579434:exon6:c.667-1G>T;ENST00000217800:exon6:c.598-1G>T;ENST00000581950:exon2:c.163-1G>T;ENST00000585023:exon3:c.230-1G>T;ENST00000579823:exon2:c.111-1G>T)	.	.	0.999985532734767	0.934
18	51810292	T	A	18	54283922	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.T976A:p.S326T;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.T739A:p.S247T;ENSG00000101751:ENST00000579434:exon6:c.T667A:p.S223T;ENSG00000101751:ENST00000579534:exon7:c.T976A:p.S326T;ENSG00000101751:ENST00000217800:exon6:c.T598A:p.S200T;ENSG00000101751:ENST00000581950:exon2:c.T163A:p.S55T;	0.0299616267391547	0.352
18	51810292	T	C	18	54283922	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.T976C:p.S326P;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.T739C:p.S247P;ENSG00000101751:ENST00000579434:exon6:c.T667C:p.S223P;ENSG00000101751:ENST00000579534:exon7:c.T976C:p.S326P;ENSG00000101751:ENST00000217800:exon6:c.T598C:p.S200P;ENSG00000101751:ENST00000581950:exon2:c.T163C:p.S55P;	0.0506343599762727	0.296
18	51810292	T	G	18	54283922	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.T976G:p.S326A;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.T739G:p.S247A;ENSG00000101751:ENST00000579434:exon6:c.T667G:p.S223A;ENSG00000101751:ENST00000579534:exon7:c.T976G:p.S326A;ENSG00000101751:ENST00000217800:exon6:c.T598G:p.S200A;ENSG00000101751:ENST00000581950:exon2:c.T163G:p.S55A;	0.0187403778758158	0.212
18	51810293	C	A	18	54283923	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.C977A:p.S326Y;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.C740A:p.S247Y;ENSG00000101751:ENST00000579434:exon6:c.C668A:p.S223Y;ENSG00000101751:ENST00000579534:exon7:c.C977A:p.S326Y;ENSG00000101751:ENST00000217800:exon6:c.C599A:p.S200Y;ENSG00000101751:ENST00000581950:exon2:c.C164A:p.S55Y;	0.756656554020971	0.45
18	51810293	C	G	18	54283923	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.C977G:p.S326C;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.C740G:p.S247C;ENSG00000101751:ENST00000579434:exon6:c.C668G:p.S223C;ENSG00000101751:ENST00000579534:exon7:c.C977G:p.S326C;ENSG00000101751:ENST00000217800:exon6:c.C599G:p.S200C;ENSG00000101751:ENST00000581950:exon2:c.C164G:p.S55C;	0.101347668234557	0.22
18	51810293	C	T	18	54283923	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.C977T:p.S326F;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.C740T:p.S247F;ENSG00000101751:ENST00000579434:exon6:c.C668T:p.S223F;ENSG00000101751:ENST00000579534:exon7:c.C977T:p.S326F;ENSG00000101751:ENST00000217800:exon6:c.C599T:p.S200F;ENSG00000101751:ENST00000581950:exon2:c.C164T:p.S55F;	0.40015043168034	0.422
18	51810381	C	A	18	54284011	y	n	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.C1065A:p.N355K;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.C828A:p.N276K;ENSG00000101751:ENST00000579434:exon6:c.C756A:p.N252K;ENSG00000101751:ENST00000579534:exon7:c.C1065A:p.N355K;ENSG00000101751:ENST00000217800:exon6:c.C687A:p.N229K;ENSG00000101751:ENST00000581950:exon2:c.C252A:p.N84K;	6.22338548091261E-4	0.018
18	51810381	C	G	18	54284011	y	n	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.C1065G:p.N355K;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.C828G:p.N276K;ENSG00000101751:ENST00000579434:exon6:c.C756G:p.N252K;ENSG00000101751:ENST00000579534:exon7:c.C1065G:p.N355K;ENSG00000101751:ENST00000217800:exon6:c.C687G:p.N229K;ENSG00000101751:ENST00000581950:exon2:c.C252G:p.N84K;	0.00232756154950445	0.052
18	51810381	C	T	18	54284011	y	n	exonic	POLI	synonymous SNV	POLI:NM_007195:exon7:c.C1065T:p.N355N;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.C828T:p.N276N;ENSG00000101751:ENST00000579434:exon6:c.C756T:p.N252N;ENSG00000101751:ENST00000579534:exon7:c.C1065T:p.N355N;ENSG00000101751:ENST00000217800:exon6:c.C687T:p.N229N;ENSG00000101751:ENST00000581950:exon2:c.C252T:p.N84N;	0.228930122680262	0.562
18	51810382	A	C	18	54284012	y	n	exonic	POLI	synonymous SNV	POLI:NM_007195:exon7:c.A1066C:p.R356R;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.A829C:p.R277R;ENSG00000101751:ENST00000579434:exon6:c.A757C:p.R253R;ENSG00000101751:ENST00000579534:exon7:c.A1066C:p.R356R;ENSG00000101751:ENST00000217800:exon6:c.A688C:p.R230R;ENSG00000101751:ENST00000581950:exon2:c.A253C:p.R85R;	0.98984622478949	0.846
18	51810382	A	G	18	54284012	y	n	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.A1066G:p.R356G;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.A829G:p.R277G;ENSG00000101751:ENST00000579434:exon6:c.A757G:p.R253G;ENSG00000101751:ENST00000579534:exon7:c.A1066G:p.R356G;ENSG00000101751:ENST00000217800:exon6:c.A688G:p.R230G;ENSG00000101751:ENST00000581950:exon2:c.A253G:p.R85G;	0.996871696572675	0.926
18	51810382	A	T	18	54284012	y	n	exonic	POLI	stopgain SNV	POLI:NM_007195:exon7:c.A1066T:p.R356X;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon6:c.A829T:p.R277X;ENSG00000101751:ENST00000579434:exon6:c.A757T:p.R253X;ENSG00000101751:ENST00000579534:exon7:c.A1066T:p.R356X;ENSG00000101751:ENST00000217800:exon6:c.A688T:p.R230X;	0.999826251388459	0.986
18	51810383	G	A	18	54284013	y	n	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.G1067A:p.R356K;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.G830A:p.R277K;ENSG00000101751:ENST00000579434:exon6:c.G758A:p.R253K;ENSG00000101751:ENST00000579534:exon7:c.G1067A:p.R356K;ENSG00000101751:ENST00000217800:exon6:c.G689A:p.R230K;ENSG00000101751:ENST00000581950:exon2:c.G254A:p.R85K;	0.999996850058548	0.994
18	51810383	G	C	18	54284013	y	n	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.G1067C:p.R356T;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.G830C:p.R277T;ENSG00000101751:ENST00000579434:exon6:c.G758C:p.R253T;ENSG00000101751:ENST00000579534:exon7:c.G1067C:p.R356T;ENSG00000101751:ENST00000217800:exon6:c.G689C:p.R230T;ENSG00000101751:ENST00000581950:exon2:c.G254C:p.R85T;	0.9999944972891	0.99
18	51810383	G	T	18	54284013	y	n	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon7:c.G1067T:p.R356I;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon6:c.G830T:p.R277I;ENSG00000101751:ENST00000579434:exon6:c.G758T:p.R253I;ENSG00000101751:ENST00000579534:exon7:c.G1067T:p.R356I;ENSG00000101751:ENST00000217800:exon6:c.G689T:p.R230I;ENSG00000101751:ENST00000581950:exon2:c.G254T:p.R85M;	0.999986019407924	0.982
18	51810384	G	A	18	54284014	y	n	splicing	POLI(NM_007195:exon7:c.1067+1G>A)	.	.	exonic;splicing	ENSG00000101751;ENSG00000101751(ENST00000579534:exon7:c.1067+1G>A;ENST00000406285:exon6:c.830+1G>A;ENST00000579434:exon6:c.758+1G>A;ENST00000217800:exon6:c.689+1G>A;ENST00000585023:exon3:c.321+1G>A;ENST00000579823:exon2:c.202+1G>A)	synonymous SNV	ENSG00000101751:ENST00000581950:exon2:c.G255A:p.R85R;	0.999992428334802	0.942
18	51810384	G	C	18	54284014	y	n	splicing	POLI(NM_007195:exon7:c.1067+1G>C)	.	.	exonic;splicing	ENSG00000101751;ENSG00000101751(ENST00000579534:exon7:c.1067+1G>C;ENST00000406285:exon6:c.830+1G>C;ENST00000579434:exon6:c.758+1G>C;ENST00000217800:exon6:c.689+1G>C;ENST00000585023:exon3:c.321+1G>C;ENST00000579823:exon2:c.202+1G>C)	nonsynonymous SNV	ENSG00000101751:ENST00000581950:exon2:c.G255C:p.R85S;	0.999992428334802	0.942
18	51810384	G	T	18	54284014	y	n	splicing	POLI(NM_007195:exon7:c.1067+1G>T)	.	.	exonic;splicing	ENSG00000101751;ENSG00000101751(ENST00000579534:exon7:c.1067+1G>T;ENST00000406285:exon6:c.830+1G>T;ENST00000579434:exon6:c.758+1G>T;ENST00000217800:exon6:c.689+1G>T;ENST00000585023:exon3:c.321+1G>T;ENST00000579823:exon2:c.202+1G>T)	nonsynonymous SNV	ENSG00000101751:ENST00000581950:exon2:c.G255T:p.R85S;	0.999992428334802	0.942
18	51810385	T	A	18	54284015	y	n	splicing	POLI(NM_007195:exon7:c.1067+2T>A)	.	.	exonic;splicing	ENSG00000101751;ENSG00000101751(ENST00000579534:exon7:c.1067+2T>A;ENST00000406285:exon6:c.830+2T>A;ENST00000579434:exon6:c.758+2T>A;ENST00000217800:exon6:c.689+2T>A;ENST00000585023:exon3:c.321+2T>A;ENST00000579823:exon2:c.202+2T>A)	stoploss SNV	ENSG00000101751:ENST00000581950:exon2:c.T256A:p.X86R;	0.999979475764401	0.92
18	51810385	T	C	18	54284015	y	n	splicing	POLI(NM_007195:exon7:c.1067+2T>C)	.	.	exonic;splicing	ENSG00000101751;ENSG00000101751(ENST00000579534:exon7:c.1067+2T>C;ENST00000406285:exon6:c.830+2T>C;ENST00000579434:exon6:c.758+2T>C;ENST00000217800:exon6:c.689+2T>C;ENST00000585023:exon3:c.321+2T>C;ENST00000579823:exon2:c.202+2T>C)	stoploss SNV	ENSG00000101751:ENST00000581950:exon2:c.T256C:p.X86R;	0.999905394969934	0.872
18	51810385	T	G	18	54284015	y	n	splicing	POLI(NM_007195:exon7:c.1067+2T>G)	.	.	exonic;splicing	ENSG00000101751;ENSG00000101751(ENST00000579534:exon7:c.1067+2T>G;ENST00000406285:exon6:c.830+2T>G;ENST00000579434:exon6:c.758+2T>G;ENST00000217800:exon6:c.689+2T>G;ENST00000585023:exon3:c.321+2T>G;ENST00000579823:exon2:c.202+2T>G)	stoploss SNV	ENSG00000101751:ENST00000581950:exon2:c.T256G:p.X86G;	0.999973339082957	0.918
18	51810386	G	A	18	54284016	y	n	intronic	POLI	.	.	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000581950:exon2:c.G257A:p.X86X;	8.82244092755229E-4	0.09
18	51810386	G	C	18	54284016	y	n	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000581950:exon2:c.G257C:p.X86S;	0.510037947666346	0.534
18	51810386	G	T	18	54284016	y	n	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000581950:exon2:c.G257T:p.X86L;	0.969454693657242	0.644
18	51810387	A	C	18	54284017	y	n	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000581950:exon2:c.A258C:p.X86C;	0.247494788042371	0.452
18	51810387	A	G	18	54284017	y	n	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000581950:exon2:c.A258G:p.X86W;	0.954271093787479	0.744
18	51810387	A	T	18	54284017	y	n	intronic	POLI	.	.	exonic	ENSG00000101751	stoploss SNV	ENSG00000101751:ENST00000581950:exon2:c.A258T:p.X86C;	0.93013285897973	0.72
18	51810388	T	A	18	54284018	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	7.5239911728328E-4	0.016
18	51810388	T	C	18	54284018	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	6.63170419056259E-4	0.066
18	51810388	T	G	18	54284018	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	0.00148843945223691	0.078
18	51810389	T	A	18	54284019	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	0.703244316423401	0.678
18	51810389	T	C	18	54284019	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	0.937734074673139	0.722
18	51810389	T	G	18	54284019	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	0.0263996173603691	0.392
18	51810390	T	A	18	54284020	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	4.09374016056082E-4	0.082
18	51810390	T	C	18	54284020	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	3.06558384223194E-4	0.058
18	51810390	T	G	18	54284020	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	2.54345666815591E-4	0.02
18	51810391	T	A	18	54284021	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	1.01010794790157E-4	0.0
18	51810391	T	C	18	54284021	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	1.16261350161734E-4	0.052
18	51810391	T	G	18	54284021	y	n	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	6.17437920758338E-5	0.002
18	51810433	A	C	18	54284063	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	3.12051756480288E-5	0.002
18	51810433	A	G	18	54284063	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	3.12051756480288E-5	0.002
18	51810433	A	T	18	54284063	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	3.12051756480288E-5	0.002
18	51810434	C	A	18	54284064	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	8.3500733371869E-5	0.012
18	51810434	C	G	18	54284064	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	1.11657407965104E-4	0.008
18	51810434	C	T	18	54284064	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	8.3500733371869E-5	0.0
18	51810435	G	A	18	54284065	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	3.78205327723092E-5	0.1
18	51810435	G	C	18	54284065	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	3.78205327723092E-5	0.004
18	51810435	G	T	18	54284065	n	y	intronic	POLI	.	.	UTR3	ENSG00000101751	.	.	3.78205327723092E-5	0.006
18	51810436	G	A	18	54284066	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000581950:exon2:c.306+1G>A)	.	.	4.68952365742707E-5	0.002
18	51810436	G	C	18	54284066	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000581950:exon2:c.306+1G>C)	.	.	4.68952365742707E-5	0.004
18	51810436	G	T	18	54284066	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000581950:exon2:c.306+1G>T)	.	.	4.68952365742707E-5	0.006
18	51810437	T	A	18	54284067	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000581950:exon2:c.306+2T>A)	.	.	6.89925739660516E-5	0.004
18	51810437	T	C	18	54284067	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000581950:exon2:c.306+2T>C)	.	.	3.31929338280547E-5	0.0
18	51810437	T	G	18	54284067	n	y	intronic	POLI	.	.	splicing	ENSG00000101751(ENST00000581950:exon2:c.306+2T>G)	.	.	3.31929338280547E-5	0.002
18	51810438	A	C	18	54284068	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.552751562108E-5	0.006
18	51810438	A	G	18	54284068	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.552751562108E-5	0.006
18	51810438	A	T	18	54284068	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.90028566392549E-5	0.004
18	51810439	T	A	18	54284069	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.80109675654916E-5	0.0
18	51810439	T	C	18	54284069	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.08291490468438E-5	0.008
18	51810439	T	G	18	54284069	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.08291490468438E-5	0.008
18	51810440	G	A	18	54284070	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.14301101535901E-5	0.022
18	51810440	G	C	18	54284070	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.68219155180855E-5	0.0
18	51810440	G	T	18	54284070	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.68219155180855E-5	0.0
18	51810441	T	A	18	54284071	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.39529611572298E-5	0.008
18	51810441	T	C	18	54284071	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.39529611572298E-5	0.008
18	51810441	T	G	18	54284071	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.39529611572298E-5	0.008
18	51810442	G	A	18	54284072	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.89925739660516E-5	0.008
18	51810442	G	C	18	54284072	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.89925739660516E-5	0.006
18	51810442	G	T	18	54284072	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.89925739660516E-5	0.006
18	51810443	G	A	18	54284073	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.19822057903476E-4	0.006
18	51810443	G	C	18	54284073	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.54864143880111E-4	0.0
18	51810443	G	T	18	54284073	n	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.19822057903476E-4	0.026
18	51813639	C	A	18	54287269	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.30722782093229E-5	0.01
18	51813639	C	G	18	54287269	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.00047622984225E-4	0.038
18	51813639	C	T	18	54287269	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.686547196892E-5	0.0
18	51813640	T	A	18	54287270	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00605400237652187	0.298
18	51813640	T	C	18	54287270	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00309558212691198	0.156
18	51813640	T	G	18	54287270	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00426216537932411	0.3
18	51813641	T	A	18	54287271	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.74897778640433E-4	0.244
18	51813641	T	C	18	54287271	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.40024239406864E-4	0.04
18	51813641	T	G	18	54287271	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.07612919278479E-4	0.268
18	51813642	T	A	18	54287272	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.54924445444331E-4	0.084
18	51813642	T	C	18	54287272	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.58390125241342E-5	0.002
18	51813642	T	G	18	54287272	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.95487749853011E-4	0.062
18	51813643	A	C	18	54287273	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.13744753075629E-5	0.006
18	51813643	A	G	18	54287273	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.81989720755799E-5	0.006
18	51813643	A	T	18	54287273	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.93874454521288E-6	0.006
18	51813644	T	A	18	54287274	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.4626203125217E-4	0.0
18	51813644	T	C	18	54287274	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.23208408270454E-5	0.002
18	51813644	T	G	18	54287274	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.963616446057002	0.93
18	51813645	T	A	18	54287275	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00781770433686021	0.218
18	51813645	T	C	18	54287275	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.17454132925847E-4	0.02
18	51813645	T	G	18	54287275	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00236917753856723	0.204
18	51813646	T	A	18	54287276	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0180053683261132	0.406
18	51813646	T	C	18	54287276	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0148941507971426	0.122
18	51813646	T	G	18	54287276	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.122977861031547	0.43
18	51813647	T	A	18	54287277	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.78817671581601E-4	0.044
18	51813647	T	C	18	54287277	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.10533334645948E-5	0.018
18	51813647	T	G	18	54287277	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.31567023444991E-5	0.02
18	51813648	T	A	18	54287278	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0592293182693433	0.248
18	51813648	T	C	18	54287278	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.87263204201495E-4	0.026
18	51813648	T	G	18	54287278	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.997822120551581	0.658
18	51813649	A	C	18	54287279	y	y	splicing	POLI(NM_007195:exon8:c.1068-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1068-2A>C;ENST00000406285:exon7:c.831-2A>C;ENST00000579434:exon7:c.759-2A>C;ENST00000217800:exon7:c.690-2A>C;ENST00000581950:exon3:c.307-2A>C;ENST00000585023:exon4:c.322-2A>C;ENST00000579823:exon3:c.203-2A>C)	.	.	0.999988247793601	0.926
18	51813649	A	G	18	54287279	y	y	splicing	POLI(NM_007195:exon8:c.1068-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1068-2A>G;ENST00000406285:exon7:c.831-2A>G;ENST00000579434:exon7:c.759-2A>G;ENST00000217800:exon7:c.690-2A>G;ENST00000581950:exon3:c.307-2A>G;ENST00000585023:exon4:c.322-2A>G;ENST00000579823:exon3:c.203-2A>G)	.	.	0.999988247793601	0.926
18	51813649	A	T	18	54287279	y	y	splicing	POLI(NM_007195:exon8:c.1068-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1068-2A>T;ENST00000406285:exon7:c.831-2A>T;ENST00000579434:exon7:c.759-2A>T;ENST00000217800:exon7:c.690-2A>T;ENST00000581950:exon3:c.307-2A>T;ENST00000585023:exon4:c.322-2A>T;ENST00000579823:exon3:c.203-2A>T)	.	.	0.999988247793601	0.926
18	51813650	G	A	18	54287280	y	y	splicing	POLI(NM_007195:exon8:c.1068-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1068-1G>A;ENST00000406285:exon7:c.831-1G>A;ENST00000579434:exon7:c.759-1G>A;ENST00000217800:exon7:c.690-1G>A;ENST00000581950:exon3:c.307-1G>A;ENST00000585023:exon4:c.322-1G>A;ENST00000579823:exon3:c.203-1G>A)	.	.	0.999985532734767	0.936
18	51813650	G	C	18	54287280	y	y	splicing	POLI(NM_007195:exon8:c.1068-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1068-1G>C;ENST00000406285:exon7:c.831-1G>C;ENST00000579434:exon7:c.759-1G>C;ENST00000217800:exon7:c.690-1G>C;ENST00000581950:exon3:c.307-1G>C;ENST00000585023:exon4:c.322-1G>C;ENST00000579823:exon3:c.203-1G>C)	.	.	0.999985532734767	0.934
18	51813650	G	T	18	54287280	y	y	splicing	POLI(NM_007195:exon8:c.1068-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1068-1G>T;ENST00000406285:exon7:c.831-1G>T;ENST00000579434:exon7:c.759-1G>T;ENST00000217800:exon7:c.690-1G>T;ENST00000581950:exon3:c.307-1G>T;ENST00000585023:exon4:c.322-1G>T;ENST00000579823:exon3:c.203-1G>T)	.	.	0.999985532734767	0.934
18	51813651	A	C	18	54287281	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.A1068C:p.R356S;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.A831C:p.R277S;ENSG00000101751:ENST00000579434:exon7:c.A759C:p.R253S;ENSG00000101751:ENST00000579534:exon8:c.A1068C:p.R356S;ENSG00000101751:ENST00000217800:exon7:c.A690C:p.R230S;	0.00126154653724309	0.028
18	51813651	A	G	18	54287281	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon8:c.A1068G:p.R356R;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.A831G:p.R277R;ENSG00000101751:ENST00000579434:exon7:c.A759G:p.R253R;ENSG00000101751:ENST00000579534:exon8:c.A1068G:p.R356R;ENSG00000101751:ENST00000217800:exon7:c.A690G:p.R230R;	1.14729200429048E-4	0.0
18	51813651	A	T	18	54287281	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.A1068T:p.R356S;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.A831T:p.R277S;ENSG00000101751:ENST00000579434:exon7:c.A759T:p.R253S;ENSG00000101751:ENST00000579534:exon8:c.A1068T:p.R356S;ENSG00000101751:ENST00000217800:exon7:c.A690T:p.R230S;	9.67499618766685E-4	0.028
18	51813652	G	A	18	54287282	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.G1069A:p.V357I;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.G832A:p.V278I;ENSG00000101751:ENST00000579434:exon7:c.G760A:p.V254I;ENSG00000101751:ENST00000579534:exon8:c.G1069A:p.V357I;ENSG00000101751:ENST00000217800:exon7:c.G691A:p.V231I;	0.0103542728005569	0.096
18	51813652	G	C	18	54287282	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.G1069C:p.V357L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.G832C:p.V278L;ENSG00000101751:ENST00000579434:exon7:c.G760C:p.V254L;ENSG00000101751:ENST00000579534:exon8:c.G1069C:p.V357L;ENSG00000101751:ENST00000217800:exon7:c.G691C:p.V231L;	0.00750667313667177	0.086
18	51813652	G	T	18	54287282	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.G1069T:p.V357L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.G832T:p.V278L;ENSG00000101751:ENST00000579434:exon7:c.G760T:p.V254L;ENSG00000101751:ENST00000579534:exon8:c.G1069T:p.V357L;ENSG00000101751:ENST00000217800:exon7:c.G691T:p.V231L;	0.00546851615059743	0.044
18	51813779	C	A	18	54287409	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.C1196A:p.T399K;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.C959A:p.T320K;ENSG00000101751:ENST00000579434:exon7:c.C887A:p.T296K;ENSG00000101751:ENST00000579534:exon8:c.C1196A:p.T399K;ENSG00000101751:ENST00000217800:exon7:c.C818A:p.T273K;	6.23914223710386E-5	0.09
18	51813779	C	G	18	54287409	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.C1196G:p.T399R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.C959G:p.T320R;ENSG00000101751:ENST00000579434:exon7:c.C887G:p.T296R;ENSG00000101751:ENST00000579534:exon8:c.C1196G:p.T399R;ENSG00000101751:ENST00000217800:exon7:c.C818G:p.T273R;	0.00161653857485711	0.094
18	51813779	C	T	18	54287409	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.C1196T:p.T399I;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.C959T:p.T320I;ENSG00000101751:ENST00000579434:exon7:c.C887T:p.T296I;ENSG00000101751:ENST00000579534:exon8:c.C1196T:p.T399I;ENSG00000101751:ENST00000217800:exon7:c.C818T:p.T273I;	0.0397488358217636	0.324
18	51813780	A	C	18	54287410	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon8:c.A1197C:p.T399T;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.A960C:p.T320T;ENSG00000101751:ENST00000579434:exon7:c.A888C:p.T296T;ENSG00000101751:ENST00000579534:exon8:c.A1197C:p.T399T;ENSG00000101751:ENST00000217800:exon7:c.A819C:p.T273T;	0.99832577779669	0.972
18	51813780	A	G	18	54287410	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon8:c.A1197G:p.T399T;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.A960G:p.T320T;ENSG00000101751:ENST00000579434:exon7:c.A888G:p.T296T;ENSG00000101751:ENST00000579534:exon8:c.A1197G:p.T399T;ENSG00000101751:ENST00000217800:exon7:c.A819G:p.T273T;	0.997871804542951	0.94
18	51813780	A	T	18	54287410	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon8:c.A1197T:p.T399T;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.A960T:p.T320T;ENSG00000101751:ENST00000579434:exon7:c.A888T:p.T296T;ENSG00000101751:ENST00000579534:exon8:c.A1197T:p.T399T;ENSG00000101751:ENST00000217800:exon7:c.A819T:p.T273T;	0.99891798538986	0.996
18	51813781	G	A	18	54287411	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.G1198A:p.G400R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.G961A:p.G321R;ENSG00000101751:ENST00000579434:exon7:c.G889A:p.G297R;ENSG00000101751:ENST00000579534:exon8:c.G1198A:p.G400R;ENSG00000101751:ENST00000217800:exon7:c.G820A:p.G274R;	0.999884459043245	0.986
18	51813781	G	C	18	54287411	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon8:c.G1198C:p.G400R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon7:c.G961C:p.G321R;ENSG00000101751:ENST00000579434:exon7:c.G889C:p.G297R;ENSG00000101751:ENST00000579534:exon8:c.G1198C:p.G400R;ENSG00000101751:ENST00000217800:exon7:c.G820C:p.G274R;	0.999949333958855	0.998
18	51813781	G	T	18	54287411	y	y	exonic	POLI	stopgain SNV	POLI:NM_007195:exon8:c.G1198T:p.G400X;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon7:c.G961T:p.G321X;ENSG00000101751:ENST00000579434:exon7:c.G889T:p.G297X;ENSG00000101751:ENST00000579534:exon8:c.G1198T:p.G400X;ENSG00000101751:ENST00000217800:exon7:c.G820T:p.G274X;	0.9999013782446	0.978
18	51813782	G	A	18	54287412	y	y	splicing	POLI(NM_007195:exon8:c.1198+1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1198+1G>A;ENST00000406285:exon7:c.961+1G>A;ENST00000579434:exon7:c.889+1G>A;ENST00000217800:exon7:c.820+1G>A;ENST00000581950:exon3:c.437+1G>A;ENST00000585023:exon4:c.452+1G>A;ENST00000579823:exon3:c.333+1G>A)	.	.	0.999985532734767	0.936
18	51813782	G	C	18	54287412	y	y	splicing	POLI(NM_007195:exon8:c.1198+1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1198+1G>C;ENST00000406285:exon7:c.961+1G>C;ENST00000579434:exon7:c.889+1G>C;ENST00000217800:exon7:c.820+1G>C;ENST00000581950:exon3:c.437+1G>C;ENST00000585023:exon4:c.452+1G>C;ENST00000579823:exon3:c.333+1G>C)	.	.	0.999985532734767	0.936
18	51813782	G	T	18	54287412	y	y	splicing	POLI(NM_007195:exon8:c.1198+1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1198+1G>T;ENST00000406285:exon7:c.961+1G>T;ENST00000579434:exon7:c.889+1G>T;ENST00000217800:exon7:c.820+1G>T;ENST00000581950:exon3:c.437+1G>T;ENST00000585023:exon4:c.452+1G>T;ENST00000579823:exon3:c.333+1G>T)	.	.	0.999985532734767	0.936
18	51813783	T	A	18	54287413	y	y	splicing	POLI(NM_007195:exon8:c.1198+2T>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1198+2T>A;ENST00000406285:exon7:c.961+2T>A;ENST00000579434:exon7:c.889+2T>A;ENST00000217800:exon7:c.820+2T>A;ENST00000581950:exon3:c.437+2T>A;ENST00000585023:exon4:c.452+2T>A;ENST00000579823:exon3:c.333+2T>A)	.	.	0.999988247793601	0.928
18	51813783	T	C	18	54287413	y	y	splicing	POLI(NM_007195:exon8:c.1198+2T>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1198+2T>C;ENST00000406285:exon7:c.961+2T>C;ENST00000579434:exon7:c.889+2T>C;ENST00000217800:exon7:c.820+2T>C;ENST00000581950:exon3:c.437+2T>C;ENST00000585023:exon4:c.452+2T>C;ENST00000579823:exon3:c.333+2T>C)	.	.	0.99340600729494	0.64
18	51813783	T	G	18	54287413	y	y	splicing	POLI(NM_007195:exon8:c.1198+2T>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon8:c.1198+2T>G;ENST00000406285:exon7:c.961+2T>G;ENST00000579434:exon7:c.889+2T>G;ENST00000217800:exon7:c.820+2T>G;ENST00000581950:exon3:c.437+2T>G;ENST00000585023:exon4:c.452+2T>G;ENST00000579823:exon3:c.333+2T>G)	.	.	0.999988247793601	0.928
18	51813784	A	C	18	54287414	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.998752595581867	0.908
18	51813784	A	G	18	54287414	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.997160826291565	0.878
18	51813784	A	T	18	54287414	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.998399369777042	0.932
18	51813785	T	A	18	54287415	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00143220569304739	0.102
18	51813785	T	C	18	54287415	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0170413815747873	0.158
18	51813785	T	G	18	54287415	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00170308116189321	0.132
18	51813786	G	A	18	54287416	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.605588232467388	0.554
18	51813786	G	C	18	54287416	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.96799399019291	0.582
18	51813786	G	T	18	54287416	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.897273917096718	0.574
18	51813787	G	A	18	54287417	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.62997349047168E-4	0.03
18	51813787	G	C	18	54287417	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00172113058451721	0.082
18	51813787	G	T	18	54287417	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.25558985932108E-5	0.006
18	51813788	A	C	18	54287418	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.4156885901322E-4	0.0
18	51813788	A	G	18	54287418	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.4156885901322E-4	0.0
18	51813788	A	T	18	54287418	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.6026288566788E-4	0.006
18	51813789	C	A	18	54287419	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.26059401686714E-4	0.038
18	51813789	C	G	18	54287419	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.21755258980111E-4	0.008
18	51813789	C	T	18	54287419	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00171597324691631	0.014
18	51818191	C	A	18	54291821	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.59195971282847E-5	0.092
18	51818191	C	G	18	54291821	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.997961561929204	0.982
18	51818191	C	T	18	54291821	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.71641570339139E-5	0.002
18	51818192	A	C	18	54291822	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.095061907394E-4	0.012
18	51818192	A	G	18	54291822	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.42967124892086E-4	0.008
18	51818192	A	T	18	54291822	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.4456241442205E-4	0.14
18	51818193	T	A	18	54291823	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.661944563245263	0.6
18	51818193	T	C	18	54291823	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00136281135663944	0.094
18	51818193	T	G	18	54291823	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999913188250184	0.982
18	51818194	T	A	18	54291824	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.64383959480658	0.61
18	51818194	T	C	18	54291824	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00211151374518307	0.094
18	51818194	T	G	18	54291824	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.758226975077644	0.686
18	51818195	T	A	18	54291825	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.752132261976777	0.434
18	51818195	T	C	18	54291825	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00123163976075519	0.022
18	51818195	T	G	18	54291825	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.123035765412353	0.394
18	51818196	T	A	18	54291826	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0116732219307201	0.262
18	51818196	T	C	18	54291826	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.2562743110787E-5	0.026
18	51818196	T	G	18	54291826	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00448715046668309	0.272
18	51818197	A	C	18	54291827	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	2.4989476808227E-4	0.042
18	51818197	A	G	18	54291827	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.73433627022809E-4	0.088
18	51818197	A	T	18	54291827	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.99101017622726E-4	0.046
18	51818198	T	A	18	54291828	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.601785963085024	0.554
18	51818198	T	C	18	54291828	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00480318529508088	0.204
18	51818198	T	G	18	54291828	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999826733303584	0.952
18	51818199	T	A	18	54291829	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.11243080553431E-4	0.028
18	51818199	T	C	18	54291829	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.51353476615986E-5	0.004
18	51818199	T	G	18	54291829	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.26206216320946E-4	0.03
18	51818200	T	A	18	54291830	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.186046433062325	0.424
18	51818200	T	C	18	54291830	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.38073682028184E-4	0.068
18	51818200	T	G	18	54291830	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.993264333661402	0.732
18	51818201	A	C	18	54291831	y	y	splicing	POLI(NM_007195:exon9:c.1199-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1199-2A>C;ENST00000406285:exon8:c.962-2A>C;ENST00000579434:exon8:c.890-2A>C;ENST00000217800:exon8:c.821-2A>C;ENST00000581950:exon4:c.438-2A>C;ENST00000585023:exon5:c.453-2A>C)	.	.	0.999979394981131	0.912
18	51818201	A	G	18	54291831	y	y	splicing	POLI(NM_007195:exon9:c.1199-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1199-2A>G;ENST00000406285:exon8:c.962-2A>G;ENST00000579434:exon8:c.890-2A>G;ENST00000217800:exon8:c.821-2A>G;ENST00000581950:exon4:c.438-2A>G;ENST00000585023:exon5:c.453-2A>G)	.	.	0.999979394981131	0.918
18	51818201	A	T	18	54291831	y	y	splicing	POLI(NM_007195:exon9:c.1199-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1199-2A>T;ENST00000406285:exon8:c.962-2A>T;ENST00000579434:exon8:c.890-2A>T;ENST00000217800:exon8:c.821-2A>T;ENST00000581950:exon4:c.438-2A>T;ENST00000585023:exon5:c.453-2A>T)	.	.	0.999979394981131	0.922
18	51818202	G	A	18	54291832	y	y	splicing	POLI(NM_007195:exon9:c.1199-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1199-1G>A;ENST00000406285:exon8:c.962-1G>A;ENST00000579434:exon8:c.890-1G>A;ENST00000217800:exon8:c.821-1G>A;ENST00000581950:exon4:c.438-1G>A;ENST00000585023:exon5:c.453-1G>A)	.	.	0.999982627682474	0.916
18	51818202	G	C	18	54291832	y	y	splicing	POLI(NM_007195:exon9:c.1199-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1199-1G>C;ENST00000406285:exon8:c.962-1G>C;ENST00000579434:exon8:c.890-1G>C;ENST00000217800:exon8:c.821-1G>C;ENST00000581950:exon4:c.438-1G>C;ENST00000585023:exon5:c.453-1G>C)	.	.	0.999982627682474	0.916
18	51818202	G	T	18	54291832	y	y	splicing	POLI(NM_007195:exon9:c.1199-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1199-1G>T;ENST00000406285:exon8:c.962-1G>T;ENST00000579434:exon8:c.890-1G>T;ENST00000217800:exon8:c.821-1G>T;ENST00000581950:exon4:c.438-1G>T;ENST00000585023:exon5:c.453-1G>T)	.	.	0.999982627682474	0.916
18	51818203	G	A	18	54291833	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.G1199A:p.G400E;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.G962A:p.G321E;ENSG00000101751:ENST00000579434:exon8:c.G890A:p.G297E;ENSG00000101751:ENST00000579534:exon9:c.G1199A:p.G400E;ENSG00000101751:ENST00000217800:exon8:c.G821A:p.G274E;	0.995766071444691	0.654
18	51818203	G	C	18	54291833	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.G1199C:p.G400A;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.G962C:p.G321A;ENSG00000101751:ENST00000579434:exon8:c.G890C:p.G297A;ENSG00000101751:ENST00000579534:exon9:c.G1199C:p.G400A;ENSG00000101751:ENST00000217800:exon8:c.G821C:p.G274A;	0.999202956217014	0.704
18	51818203	G	T	18	54291833	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.G1199T:p.G400V;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.G962T:p.G321V;ENSG00000101751:ENST00000579434:exon8:c.G890T:p.G297V;ENSG00000101751:ENST00000579534:exon9:c.G1199T:p.G400V;ENSG00000101751:ENST00000217800:exon8:c.G821T:p.G274V;	0.99917650564634	0.762
18	51818204	A	C	18	54291834	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon9:c.A1200C:p.G400G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.A963C:p.G321G;ENSG00000101751:ENST00000579434:exon8:c.A891C:p.G297G;ENSG00000101751:ENST00000579534:exon9:c.A1200C:p.G400G;ENSG00000101751:ENST00000217800:exon8:c.A822C:p.G274G;	0.00234065372403953	0.074
18	51818204	A	G	18	54291834	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon9:c.A1200G:p.G400G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.A963G:p.G321G;ENSG00000101751:ENST00000579434:exon8:c.A891G:p.G297G;ENSG00000101751:ENST00000579534:exon9:c.A1200G:p.G400G;ENSG00000101751:ENST00000217800:exon8:c.A822G:p.G274G;	0.00112398818135066	0.036
18	51818204	A	T	18	54291834	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon9:c.A1200T:p.G400G;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.A963T:p.G321G;ENSG00000101751:ENST00000579434:exon8:c.A891T:p.G297G;ENSG00000101751:ENST00000579534:exon9:c.A1200T:p.G400G;ENSG00000101751:ENST00000217800:exon8:c.A822T:p.G274G;	1.87967420613616E-4	0.056
18	51818406	T	A	18	54292036	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.T1402A:p.F468I;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1165A:p.F389I;ENSG00000101751:ENST00000579434:exon8:c.T1093A:p.F365I;ENSG00000101751:ENST00000579534:exon9:c.T1402A:p.F468I;ENSG00000101751:ENST00000217800:exon8:c.T1024A:p.F342I;	8.46704157855241E-4	0.014
18	51818406	T	C	18	54292036	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.T1402C:p.F468L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1165C:p.F389L;ENSG00000101751:ENST00000579434:exon8:c.T1093C:p.F365L;ENSG00000101751:ENST00000579534:exon9:c.T1402C:p.F468L;ENSG00000101751:ENST00000217800:exon8:c.T1024C:p.F342L;	9.69993603745738E-4	0.002
18	51818406	T	G	18	54292036	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.T1402G:p.F468V;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1165G:p.F389V;ENSG00000101751:ENST00000579434:exon8:c.T1093G:p.F365V;ENSG00000101751:ENST00000579534:exon9:c.T1402G:p.F468V;ENSG00000101751:ENST00000217800:exon8:c.T1024G:p.F342V;	7.45331166099071E-4	0.028
18	51818407	T	A	18	54292037	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.T1403A:p.F468Y;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1166A:p.F389Y;ENSG00000101751:ENST00000579434:exon8:c.T1094A:p.F365Y;ENSG00000101751:ENST00000579534:exon9:c.T1403A:p.F468Y;ENSG00000101751:ENST00000217800:exon8:c.T1025A:p.F342Y;	5.28502489485793E-4	0.148
18	51818407	T	C	18	54292037	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.T1403C:p.F468S;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1166C:p.F389S;ENSG00000101751:ENST00000579434:exon8:c.T1094C:p.F365S;ENSG00000101751:ENST00000579534:exon9:c.T1403C:p.F468S;ENSG00000101751:ENST00000217800:exon8:c.T1025C:p.F342S;	4.6817341117372E-5	0.002
18	51818407	T	G	18	54292037	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.T1403G:p.F468C;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1166G:p.F389C;ENSG00000101751:ENST00000579434:exon8:c.T1094G:p.F365C;ENSG00000101751:ENST00000579534:exon9:c.T1403G:p.F468C;ENSG00000101751:ENST00000217800:exon8:c.T1025G:p.F342C;	2.63096905550654E-4	0.05
18	51818408	T	A	18	54292038	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.T1404A:p.F468L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1167A:p.F389L;ENSG00000101751:ENST00000579434:exon8:c.T1095A:p.F365L;ENSG00000101751:ENST00000579534:exon9:c.T1404A:p.F468L;ENSG00000101751:ENST00000217800:exon8:c.T1026A:p.F342L;	0.00441593290742907	0.028
18	51818408	T	C	18	54292038	y	y	exonic	POLI	synonymous SNV	POLI:NM_007195:exon9:c.T1404C:p.F468F;	exonic	ENSG00000101751	synonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1167C:p.F389F;ENSG00000101751:ENST00000579434:exon8:c.T1095C:p.F365F;ENSG00000101751:ENST00000579534:exon9:c.T1404C:p.F468F;ENSG00000101751:ENST00000217800:exon8:c.T1026C:p.F342F;	0.0190612141273772	0.298
18	51818408	T	G	18	54292038	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon9:c.T1404G:p.F468L;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon8:c.T1167G:p.F389L;ENSG00000101751:ENST00000579434:exon8:c.T1095G:p.F365L;ENSG00000101751:ENST00000579534:exon9:c.T1404G:p.F468L;ENSG00000101751:ENST00000217800:exon8:c.T1026G:p.F342L;	9.9916456689035E-4	0.062
18	51818409	G	A	18	54292039	y	y	splicing	POLI(NM_007195:exon9:c.1404+1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1404+1G>A;ENST00000406285:exon8:c.1167+1G>A;ENST00000579434:exon8:c.1095+1G>A;ENST00000217800:exon8:c.1026+1G>A;ENST00000581950:exon4:c.643+1G>A;ENST00000585023:exon5:c.658+1G>A)	.	.	0.999933757597683	0.94
18	51818409	G	C	18	54292039	y	y	splicing	POLI(NM_007195:exon9:c.1404+1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1404+1G>C;ENST00000406285:exon8:c.1167+1G>C;ENST00000579434:exon8:c.1095+1G>C;ENST00000217800:exon8:c.1026+1G>C;ENST00000581950:exon4:c.643+1G>C;ENST00000585023:exon5:c.658+1G>C)	.	.	0.999956786857988	0.938
18	51818409	G	T	18	54292039	y	y	splicing	POLI(NM_007195:exon9:c.1404+1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1404+1G>T;ENST00000406285:exon8:c.1167+1G>T;ENST00000579434:exon8:c.1095+1G>T;ENST00000217800:exon8:c.1026+1G>T;ENST00000581950:exon4:c.643+1G>T;ENST00000585023:exon5:c.658+1G>T)	.	.	0.999956786857988	0.938
18	51818410	T	A	18	54292040	y	y	splicing	POLI(NM_007195:exon9:c.1404+2T>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1404+2T>A;ENST00000406285:exon8:c.1167+2T>A;ENST00000579434:exon8:c.1095+2T>A;ENST00000217800:exon8:c.1026+2T>A;ENST00000581950:exon4:c.643+2T>A;ENST00000585023:exon5:c.658+2T>A)	.	.	0.999972155025474	0.85
18	51818410	T	C	18	54292040	y	y	splicing	POLI(NM_007195:exon9:c.1404+2T>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1404+2T>C;ENST00000406285:exon8:c.1167+2T>C;ENST00000579434:exon8:c.1095+2T>C;ENST00000217800:exon8:c.1026+2T>C;ENST00000581950:exon4:c.643+2T>C;ENST00000585023:exon5:c.658+2T>C)	.	.	0.995260357913599	0.674
18	51818410	T	G	18	54292040	y	y	splicing	POLI(NM_007195:exon9:c.1404+2T>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon9:c.1404+2T>G;ENST00000406285:exon8:c.1167+2T>G;ENST00000579434:exon8:c.1095+2T>G;ENST00000217800:exon8:c.1026+2T>G;ENST00000581950:exon4:c.643+2T>G;ENST00000585023:exon5:c.658+2T>G)	.	.	0.999969255906173	0.86
18	51818411	A	C	18	54292041	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.99956008893223	0.898
18	51818411	A	G	18	54292041	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0389354029848916	0.232
18	51818411	A	T	18	54292041	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.9994301266895	0.878
18	51818412	A	C	18	54292042	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.990046364136415	0.724
18	51818412	A	G	18	54292042	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.997665085999129	0.902
18	51818412	A	T	18	54292042	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.998288463388605	0.866
18	51818413	G	A	18	54292043	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999984166337008	0.998
18	51818413	G	C	18	54292043	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999993320979416	0.986
18	51818413	G	T	18	54292043	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999990690024462	0.998
18	51818414	T	A	18	54292044	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.967623372540162	0.702
18	51818414	T	C	18	54292044	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.975140000094583	0.836
18	51818414	T	G	18	54292044	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.964372109724521	0.714
18	51818415	A	C	18	54292045	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.31052049849977E-4	0.024
18	51818415	A	G	18	54292045	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.31052049849977E-4	0.024
18	51818415	A	T	18	54292045	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.32966584831453E-4	0.018
18	51818416	C	A	18	54292046	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	3.07970635103964E-4	0.0
18	51818416	C	G	18	54292046	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.75167942703322E-4	0.002
18	51818416	C	T	18	54292046	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	6.25467202314132E-5	0.0
18	51820007	C	A	18	54293637	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.32891031662244E-4	0.076
18	51820007	C	G	18	54293637	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.04309000740955E-5	0.07
18	51820007	C	T	18	54293637	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.91642353039371E-6	0.01
18	51820008	T	A	18	54293638	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.989063542963031	0.74
18	51820008	T	C	18	54293638	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0494639918783649	0.26
18	51820008	T	G	18	54293638	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.955207704977419	0.68
18	51820009	T	A	18	54293639	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999975775314809	0.96
18	51820009	T	C	18	54293639	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00539901572529863	0.1
18	51820009	T	G	18	54293639	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.986152765777358	0.798
18	51820010	G	A	18	54293640	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.62170661147359E-5	0.132
18	51820010	G	C	18	54293640	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	9.01807312038178E-5	0.14
18	51820010	G	T	18	54293640	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.91806473974217E-5	0.182
18	51820011	T	A	18	54293641	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.999862943491857	0.962
18	51820011	T	C	18	54293641	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00197070144382624	0.048
18	51820011	T	G	18	54293641	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.92953779150943	0.726
18	51820012	G	A	18	54293642	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.23048262412614E-5	0.036
18	51820012	G	C	18	54293642	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.34544128839136E-5	0.002
18	51820012	G	T	18	54293642	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	5.69498757794533E-5	0.0
18	51820013	T	A	18	54293643	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.950751853533909	0.624
18	51820013	T	C	18	54293643	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.0110814744462229	0.094
18	51820013	T	G	18	54293643	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.95873088581133	0.57
18	51820014	T	A	18	54293644	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.803519857734705	0.458
18	51820014	T	C	18	54293644	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.00546485592065557	0.038
18	51820014	T	G	18	54293644	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.572695404919225	0.458
18	51820015	C	A	18	54293645	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	7.13493110323589E-5	0.002
18	51820015	C	G	18	54293645	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	8.06146500960125E-5	0.002
18	51820015	C	T	18	54293645	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	4.85180472708938E-5	0.0
18	51820016	T	A	18	54293646	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.81044523826496	0.422
18	51820016	T	C	18	54293646	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	1.05330726807698E-4	0.008
18	51820016	T	G	18	54293646	y	y	intronic	POLI	.	.	intronic	ENSG00000101751	.	.	0.996693772897497	0.786
18	51820017	A	C	18	54293647	y	y	splicing	POLI(NM_007195:exon10:c.1405-2A>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon10:c.1405-2A>C;ENST00000406285:exon9:c.1168-2A>C;ENST00000579434:exon9:c.1096-2A>C;ENST00000217800:exon9:c.1027-2A>C;ENST00000581950:exon5:c.644-2A>C;ENST00000585023:exon6:c.659-2A>C)	.	.	0.999988247793601	0.926
18	51820017	A	G	18	54293647	y	y	splicing	POLI(NM_007195:exon10:c.1405-2A>G)	.	.	splicing	ENSG00000101751(ENST00000579534:exon10:c.1405-2A>G;ENST00000406285:exon9:c.1168-2A>G;ENST00000579434:exon9:c.1096-2A>G;ENST00000217800:exon9:c.1027-2A>G;ENST00000581950:exon5:c.644-2A>G;ENST00000585023:exon6:c.659-2A>G)	.	.	0.999988247793601	0.926
18	51820017	A	T	18	54293647	y	y	splicing	POLI(NM_007195:exon10:c.1405-2A>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon10:c.1405-2A>T;ENST00000406285:exon9:c.1168-2A>T;ENST00000579434:exon9:c.1096-2A>T;ENST00000217800:exon9:c.1027-2A>T;ENST00000581950:exon5:c.644-2A>T;ENST00000585023:exon6:c.659-2A>T)	.	.	0.999988247793601	0.926
18	51820018	G	A	18	54293648	y	y	splicing	POLI(NM_007195:exon10:c.1405-1G>A)	.	.	splicing	ENSG00000101751(ENST00000579534:exon10:c.1405-1G>A;ENST00000406285:exon9:c.1168-1G>A;ENST00000579434:exon9:c.1096-1G>A;ENST00000217800:exon9:c.1027-1G>A;ENST00000581950:exon5:c.644-1G>A;ENST00000585023:exon6:c.659-1G>A)	.	.	0.999985532734767	0.936
18	51820018	G	C	18	54293648	y	y	splicing	POLI(NM_007195:exon10:c.1405-1G>C)	.	.	splicing	ENSG00000101751(ENST00000579534:exon10:c.1405-1G>C;ENST00000406285:exon9:c.1168-1G>C;ENST00000579434:exon9:c.1096-1G>C;ENST00000217800:exon9:c.1027-1G>C;ENST00000581950:exon5:c.644-1G>C;ENST00000585023:exon6:c.659-1G>C)	.	.	0.999985532734767	0.936
18	51820018	G	T	18	54293648	y	y	splicing	POLI(NM_007195:exon10:c.1405-1G>T)	.	.	splicing	ENSG00000101751(ENST00000579534:exon10:c.1405-1G>T;ENST00000406285:exon9:c.1168-1G>T;ENST00000579434:exon9:c.1096-1G>T;ENST00000217800:exon9:c.1027-1G>T;ENST00000581950:exon5:c.644-1G>T;ENST00000585023:exon6:c.659-1G>T)	.	.	0.999985532734767	0.936
18	51820019	A	C	18	54293649	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon10:c.A1405C:p.K469Q;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon9:c.A1168C:p.K390Q;ENSG00000101751:ENST00000579434:exon9:c.A1096C:p.K366Q;ENSG00000101751:ENST00000579534:exon10:c.A1405C:p.K469Q;ENSG00000101751:ENST00000217800:exon9:c.A1027C:p.K343Q;	0.00529064024882934	0.082
18	51820019	A	G	18	54293649	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon10:c.A1405G:p.K469E;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon9:c.A1168G:p.K390E;ENSG00000101751:ENST00000579434:exon9:c.A1096G:p.K366E;ENSG00000101751:ENST00000579534:exon10:c.A1405G:p.K469E;ENSG00000101751:ENST00000217800:exon9:c.A1027G:p.K343E;	8.82490114268222E-5	0.002
18	51820019	A	T	18	54293649	y	y	exonic	POLI	stopgain SNV	POLI:NM_007195:exon10:c.A1405T:p.K469X;	exonic	ENSG00000101751	stopgain SNV	ENSG00000101751:ENST00000406285:exon9:c.A1168T:p.K390X;ENSG00000101751:ENST00000579434:exon9:c.A1096T:p.K366X;ENSG00000101751:ENST00000579534:exon10:c.A1405T:p.K469X;ENSG00000101751:ENST00000217800:exon9:c.A1027T:p.K343X;	0.0168223049190272	0.306
18	51820020	A	C	18	54293650	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon10:c.A1406C:p.K469T;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon9:c.A1169C:p.K390T;ENSG00000101751:ENST00000579434:exon9:c.A1097C:p.K366T;ENSG00000101751:ENST00000579534:exon10:c.A1406C:p.K469T;ENSG00000101751:ENST00000217800:exon9:c.A1028C:p.K343T;	0.00398584750741996	0.058
18	51820020	A	G	18	54293650	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon10:c.A1406G:p.K469R;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon9:c.A1169G:p.K390R;ENSG00000101751:ENST00000579434:exon9:c.A1097G:p.K366R;ENSG00000101751:ENST00000579534:exon10:c.A1406G:p.K469R;ENSG00000101751:ENST00000217800:exon9:c.A1028G:p.K343R;	0.00832017847372916	0.04
18	51820020	A	T	18	54293650	y	y	exonic	POLI	nonsynonymous SNV	POLI:NM_007195:exon10:c.A1406T:p.K469I;	exonic	ENSG00000101751	nonsynonymous SNV	ENSG00000101751:ENST00000406285:exon9:c.A1169T:p.K390I;ENSG00000101751:ENST00000579434:exon9:c.A1097T:p.K366I;ENSG00000101751:ENST00000579534:exon10:c.A1406T:p.K469I;ENSG00000101751:ENST00000217800:exon9:c.A1028T:p.K343I;	0.00347317411789567	0.028
18	51851244	T	A	18	54324874	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon6:c.A481T:p.N161Y;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon4:c.A109T:p.N37Y;ENSG00000174448:ENST00000581310:exon9:c.A481T:p.N161Y;ENSG00000174448:ENST00000307844:exon6:c.A481T:p.N161Y;	0.00343135428929072	0.036
18	51851244	T	C	18	54324874	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon6:c.A481G:p.N161D;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon4:c.A109G:p.N37D;ENSG00000174448:ENST00000581310:exon9:c.A481G:p.N161D;ENSG00000174448:ENST00000307844:exon6:c.A481G:p.N161D;	0.0260972201520728	0.072
18	51851244	T	G	18	54324874	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon6:c.A481C:p.N161H;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon4:c.A109C:p.N37H;ENSG00000174448:ENST00000581310:exon9:c.A481C:p.N161H;ENSG00000174448:ENST00000307844:exon6:c.A481C:p.N161H;	0.0106936099506563	0.066
18	51851245	T	A	18	54324875	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon6:c.A480T:p.E160D;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon4:c.A108T:p.L36F;ENSG00000174448:ENST00000581310:exon9:c.A480T:p.E160D;ENSG00000174448:ENST00000307844:exon6:c.A480T:p.E160D;	0.00341545630577998	0.132
18	51851245	T	C	18	54324875	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon6:c.A480G:p.E160E;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000580990:exon4:c.A108G:p.L36L;ENSG00000174448:ENST00000581310:exon9:c.A480G:p.E160E;ENSG00000174448:ENST00000307844:exon6:c.A480G:p.E160E;	5.58610437770729E-4	0.006
18	51851245	T	G	18	54324875	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon6:c.A480C:p.E160D;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon4:c.A108C:p.L36F;ENSG00000174448:ENST00000581310:exon9:c.A480C:p.E160D;ENSG00000174448:ENST00000307844:exon6:c.A480C:p.E160D;	0.00182386063647072	0.086
18	51851246	C	A	18	54324876	y	y	splicing	STARD6(NM_139171:exon7:c.480-1G>T)	.	.	splicing	ENSG00000174448(ENST00000580990:exon5:c.108-1G>T;ENST00000581310:exon10:c.480-1G>T;ENST00000307844:exon7:c.480-1G>T)	.	.	0.999992446697775	0.92
18	51851246	C	G	18	54324876	y	y	splicing	STARD6(NM_139171:exon7:c.480-1G>C)	.	.	splicing	ENSG00000174448(ENST00000580990:exon5:c.108-1G>C;ENST00000581310:exon10:c.480-1G>C;ENST00000307844:exon7:c.480-1G>C)	.	.	0.999992446697775	0.92
18	51851246	C	T	18	54324876	y	y	splicing	STARD6(NM_139171:exon7:c.480-1G>A)	.	.	splicing	ENSG00000174448(ENST00000580990:exon5:c.108-1G>A;ENST00000581310:exon10:c.480-1G>A;ENST00000307844:exon7:c.480-1G>A)	.	.	0.999992446697775	0.92
18	51851247	T	A	18	54324877	y	y	splicing	STARD6(NM_139171:exon7:c.480-2A>T)	.	.	splicing	ENSG00000174448(ENST00000580990:exon5:c.108-2A>T;ENST00000581310:exon10:c.480-2A>T;ENST00000307844:exon7:c.480-2A>T)	.	.	0.999992446697775	0.928
18	51851247	T	C	18	54324877	y	y	splicing	STARD6(NM_139171:exon7:c.480-2A>G)	.	.	splicing	ENSG00000174448(ENST00000580990:exon5:c.108-2A>G;ENST00000581310:exon10:c.480-2A>G;ENST00000307844:exon7:c.480-2A>G)	.	.	0.999992446697775	0.928
18	51851247	T	G	18	54324877	y	y	splicing	STARD6(NM_139171:exon7:c.480-2A>C)	.	.	splicing	ENSG00000174448(ENST00000580990:exon5:c.108-2A>C;ENST00000581310:exon10:c.480-2A>C;ENST00000307844:exon7:c.480-2A>C)	.	.	0.999992446697775	0.928
18	51851248	G	A	18	54324878	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00895378835472591	0.082
18	51851248	G	C	18	54324878	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.99976790324344	0.948
18	51851248	G	T	18	54324878	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.985363298538075	0.602
18	51851249	T	A	18	54324879	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00119561353484243	0.042
18	51851249	T	C	18	54324879	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.67419844809465E-4	0.02
18	51851249	T	G	18	54324879	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.52462643028852E-4	0.004
18	51851250	A	C	18	54324880	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.441902789664056	0.476
18	51851250	A	G	18	54324880	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0113265663480938	0.088
18	51851250	A	T	18	54324880	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.219292872872205	0.522
18	51851251	A	C	18	54324881	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0163166011952796	0.094
18	51851251	A	G	18	54324881	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.40123680137384E-4	0.022
18	51851251	A	T	18	54324881	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0188369898984866	0.122
18	51851252	G	A	18	54324882	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.56032465922295E-4	0.0
18	51851252	G	C	18	54324882	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.33358347997258E-4	0.028
18	51851252	G	T	18	54324882	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00230157407519825	0.126
18	51851253	C	A	18	54324883	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.54866963041083E-4	0.002
18	51851253	C	G	18	54324883	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.8407751736218E-4	0.004
18	51851253	C	T	18	54324883	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.94681809685598E-4	0.006
18	51851254	A	C	18	54324884	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.68084353736526E-4	0.058
18	51851254	A	G	18	54324884	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.37192005096123E-5	0.026
18	51851254	A	T	18	54324884	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.995825746967341	0.922
18	51851255	A	C	18	54324885	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.8269322090176E-4	0.084
18	51851255	A	G	18	54324885	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.67034621828085E-4	0.076
18	51851255	A	T	18	54324885	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00154603749527465	0.142
18	51851256	A	C	18	54324886	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.574429510889277	0.514
18	51851256	A	G	18	54324886	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.579731893382204	0.322
18	51851256	A	T	18	54324886	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.65913009166967	0.622
18	51851257	A	C	18	54324887	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	4.42240072436857E-4	0.06
18	51851257	A	G	18	54324887	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.86756744221141E-5	0.012
18	51851257	A	T	18	54324887	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00417180488145145	0.114
18	51855709	A	C	18	54329339	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.10346612926138E-5	0.002
18	51855709	A	G	18	54329339	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.01174165683835E-5	0.0
18	51855709	A	T	18	54329339	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.10346612926138E-5	0.006
18	51855710	C	A	18	54329340	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.28565290852079E-5	0.0
18	51855710	C	G	18	54329340	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.80209441003219E-5	0.0
18	51855710	C	T	18	54329340	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.36411379079871E-5	0.0
18	51855711	A	C	18	54329341	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.927879235019141	0.708
18	51855711	A	G	18	54329341	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.870277660549152	0.572
18	51855711	A	T	18	54329341	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.857995642318944	0.572
18	51855712	C	A	18	54329342	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999987137823199	0.97
18	51855712	C	G	18	54329342	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999986741755552	0.956
18	51855712	C	T	18	54329342	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999986388644287	0.976
18	51855713	T	A	18	54329343	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.97976543146351	0.798
18	51855713	T	C	18	54329343	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.987828915951341	0.816
18	51855713	T	G	18	54329343	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.957527493312614	0.676
18	51855714	T	A	18	54329344	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999233141991658	0.916
18	51855714	T	C	18	54329344	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.225056199065295	0.308
18	51855714	T	G	18	54329344	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.99941255589327	0.884
18	51855715	A	C	18	54329345	y	y	splicing	STARD6(NM_139171:exon6:c.479+2T>G)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.479+2T>G;ENST00000307844:exon6:c.479+2T>G)	.	.	0.99998382861657	0.844
18	51855715	A	G	18	54329345	y	y	splicing	STARD6(NM_139171:exon6:c.479+2T>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.479+2T>C;ENST00000307844:exon6:c.479+2T>C)	.	.	0.964766952976112	0.552
18	51855715	A	T	18	54329345	y	y	splicing	STARD6(NM_139171:exon6:c.479+2T>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.479+2T>A;ENST00000307844:exon6:c.479+2T>A)	.	.	0.99998382861657	0.862
18	51855716	C	A	18	54329346	y	y	splicing	STARD6(NM_139171:exon6:c.479+1G>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.479+1G>T;ENST00000307844:exon6:c.479+1G>T)	.	.	0.999969255906173	0.858
18	51855716	C	G	18	54329346	y	y	splicing	STARD6(NM_139171:exon6:c.479+1G>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.479+1G>C;ENST00000307844:exon6:c.479+1G>C)	.	.	0.999962958601995	0.852
18	51855716	C	T	18	54329346	y	y	splicing	STARD6(NM_139171:exon6:c.479+1G>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.479+1G>A;ENST00000307844:exon6:c.479+1G>A)	.	.	0.999969255906173	0.87
18	51855717	T	A	18	54329347	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.A479T:p.E160V;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.A479T:p.E160V;ENSG00000174448:ENST00000307844:exon5:c.A479T:p.E160V;	0.00292877252425521	0.096
18	51855717	T	C	18	54329347	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.A479G:p.E160G;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.A479G:p.E160G;ENSG00000174448:ENST00000307844:exon5:c.A479G:p.E160G;	0.0012545569969235	0.184
18	51855717	T	G	18	54329347	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.A479C:p.E160A;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.A479C:p.E160A;ENSG00000174448:ENST00000307844:exon5:c.A479C:p.E160A;	0.00576238210879681	0.026
18	51855718	C	A	18	54329348	y	y	exonic	STARD6	stopgain SNV	STARD6:NM_139171:exon5:c.G478T:p.E160X;	exonic	ENSG00000174448	stopgain SNV	ENSG00000174448:ENST00000581310:exon8:c.G478T:p.E160X;ENSG00000174448:ENST00000307844:exon5:c.G478T:p.E160X;	0.050293255620999	0.114
18	51855718	C	G	18	54329348	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.G478C:p.E160Q;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.G478C:p.E160Q;ENSG00000174448:ENST00000307844:exon5:c.G478C:p.E160Q;	0.018010074013781	0.044
18	51855718	C	T	18	54329348	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.G478A:p.E160K;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.G478A:p.E160K;ENSG00000174448:ENST00000307844:exon5:c.G478A:p.E160K;	0.769705009473241	0.466
18	51855719	T	A	18	54329349	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.A477T:p.E159D;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.A477T:p.E159D;ENSG00000174448:ENST00000307844:exon5:c.A477T:p.E159D;	0.00280671454956906	0.082
18	51855719	T	C	18	54329349	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon5:c.A477G:p.E159E;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.A477G:p.E159E;ENSG00000174448:ENST00000307844:exon5:c.A477G:p.E159E;	5.66213043086305E-5	0.006
18	51855719	T	G	18	54329349	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.A477C:p.E159D;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.A477C:p.E159D;ENSG00000174448:ENST00000307844:exon5:c.A477C:p.E159D;	2.8532278842635E-5	0.0
18	51855809	A	C	18	54329439	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon5:c.T387G:p.S129S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.T387G:p.S129S;ENSG00000174448:ENST00000307844:exon5:c.T387G:p.S129S;	0.00277462598178266	0.078
18	51855809	A	G	18	54329439	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon5:c.T387C:p.S129S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.T387C:p.S129S;ENSG00000174448:ENST00000307844:exon5:c.T387C:p.S129S;	0.00422579006289986	0.094
18	51855809	A	T	18	54329439	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon5:c.T387A:p.S129S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.T387A:p.S129S;ENSG00000174448:ENST00000307844:exon5:c.T387A:p.S129S;	0.0104312766682172	0.084
18	51855810	G	A	18	54329440	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.C386T:p.S129F;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.C386T:p.S129F;ENSG00000174448:ENST00000307844:exon5:c.C386T:p.S129F;	2.78643743248686E-4	0.16
18	51855810	G	C	18	54329440	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.C386G:p.S129C;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.C386G:p.S129C;ENSG00000174448:ENST00000307844:exon5:c.C386G:p.S129C;	1.51532984706028E-4	0.046
18	51855810	G	T	18	54329440	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon5:c.C386A:p.S129Y;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon8:c.C386A:p.S129Y;ENSG00000174448:ENST00000307844:exon5:c.C386A:p.S129Y;	1.06503405153061E-4	0.014
18	51855811	C	A	18	54329441	y	y	splicing	STARD6(NM_139171:exon6:c.386-1G>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.386-1G>T;ENST00000307844:exon6:c.386-1G>T)	.	.	0.999958134092619	0.818
18	51855811	C	G	18	54329441	y	y	splicing	STARD6(NM_139171:exon6:c.386-1G>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.386-1G>C;ENST00000307844:exon6:c.386-1G>C)	.	.	0.999958134092619	0.824
18	51855811	C	T	18	54329441	y	y	splicing	STARD6(NM_139171:exon6:c.386-1G>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.386-1G>A;ENST00000307844:exon6:c.386-1G>A)	.	.	0.999958134092619	0.814
18	51855812	T	A	18	54329442	y	y	splicing	STARD6(NM_139171:exon6:c.386-2A>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.386-2A>T;ENST00000307844:exon6:c.386-2A>T)	.	.	0.999973091924779	0.814
18	51855812	T	C	18	54329442	y	y	splicing	STARD6(NM_139171:exon6:c.386-2A>G)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.386-2A>G;ENST00000307844:exon6:c.386-2A>G)	.	.	0.999973091924779	0.816
18	51855812	T	G	18	54329442	y	y	splicing	STARD6(NM_139171:exon6:c.386-2A>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon9:c.386-2A>C;ENST00000307844:exon6:c.386-2A>C)	.	.	0.999973091924779	0.816
18	51855813	A	C	18	54329443	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.888527078474275	0.58
18	51855813	A	G	18	54329443	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	7.10073052216643E-5	0.04
18	51855813	A	T	18	54329443	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0120123005587025	0.318
18	51855814	A	C	18	54329444	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.73070190150067E-5	0.032
18	51855814	A	G	18	54329444	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	6.65922007636444E-5	0.026
18	51855814	A	T	18	54329444	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	6.95865767015902E-5	0.002
18	51855815	G	A	18	54329445	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.81078095283392E-4	0.03
18	51855815	G	C	18	54329445	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.145782795161992	0.252
18	51855815	G	T	18	54329445	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.120479547733078	0.198
18	51855816	A	C	18	54329446	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0473429595099868	0.442
18	51855816	A	G	18	54329446	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	7.30469877260959E-5	0.004
18	51855816	A	T	18	54329446	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0310795926815687	0.448
18	51855817	G	A	18	54329447	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.21407417939321E-5	0.0
18	51855817	G	C	18	54329447	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	9.70939686336175E-4	0.09
18	51855817	G	T	18	54329447	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00141148081493305	0.096
18	51855818	A	C	18	54329448	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999790409214724	0.994
18	51855818	A	G	18	54329448	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	4.57322272204221E-4	0.052
18	51855818	A	T	18	54329448	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.662723631592233	0.524
18	51855819	T	A	18	54329449	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0011314075864385	0.076
18	51855819	T	C	18	54329449	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999054524516959	0.962
18	51855819	T	G	18	54329449	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.41617264078732E-4	0.026
18	51855820	T	A	18	54329450	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00250798366496672	0.076
18	51855820	T	C	18	54329450	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999498795499916	0.93
18	51855820	T	G	18	54329450	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.09097196152363E-4	0.046
18	51855821	T	A	18	54329451	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.36475164215061E-5	0.024
18	51855821	T	C	18	54329451	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.457687273904822	0.554
18	51855821	T	G	18	54329451	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.58645906776164E-5	0.006
18	51855822	T	A	18	54329452	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.6769218877242E-5	0.024
18	51855822	T	C	18	54329452	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.04749825627719E-5	0.108
18	51855822	T	G	18	54329452	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.97769277305195E-5	0.006
18	51858104	C	A	18	54331734	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.64229686280467E-5	0.0
18	51858104	C	G	18	54331734	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.64229686280467E-5	0.024
18	51858104	C	T	18	54331734	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.87013695957833E-5	0.0
18	51858105	A	C	18	54331735	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	6.82601429244813E-4	0.004
18	51858105	A	G	18	54331735	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00106627147882891	0.002
18	51858105	A	T	18	54331735	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	6.82601429244813E-4	0.002
18	51858106	A	C	18	54331736	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.97992336540541	0.746
18	51858106	A	G	18	54331736	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.976816781057231	0.818
18	51858106	A	T	18	54331736	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.976832478409828	0.7
18	51858107	C	A	18	54331737	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.99998242379676	0.978
18	51858107	C	G	18	54331737	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.99999774729043	0.968
18	51858107	C	T	18	54331737	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999986656270251	0.998
18	51858108	T	A	18	54331738	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.981440178401137	0.83
18	51858108	T	C	18	54331738	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.997068218540646	0.892
18	51858108	T	G	18	54331738	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.99312014134858	0.816
18	51858109	T	A	18	54331739	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.998798034275168	0.872
18	51858109	T	C	18	54331739	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.130260877996793	0.4
18	51858109	T	G	18	54331739	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999181361533881	0.842
18	51858110	A	C	18	54331740	y	y	splicing	STARD6(NM_139171:exon5:c.385+2T>G)	.	.	splicing	ENSG00000174448(ENST00000580990:exon4:c.107+2T>G;ENST00000581310:exon8:c.385+2T>G;ENST00000307844:exon5:c.385+2T>G)	.	.	0.999971317418422	0.898
18	51858110	A	G	18	54331740	y	y	splicing	STARD6(NM_139171:exon5:c.385+2T>C)	.	.	splicing	ENSG00000174448(ENST00000580990:exon4:c.107+2T>C;ENST00000581310:exon8:c.385+2T>C;ENST00000307844:exon5:c.385+2T>C)	.	.	0.973830364397882	0.598
18	51858110	A	T	18	54331740	y	y	splicing	STARD6(NM_139171:exon5:c.385+2T>A)	.	.	splicing	ENSG00000174448(ENST00000580990:exon4:c.107+2T>A;ENST00000581310:exon8:c.385+2T>A;ENST00000307844:exon5:c.385+2T>A)	.	.	0.999963671976247	0.926
18	51858111	C	A	18	54331741	y	y	splicing	STARD6(NM_139171:exon5:c.385+1G>T)	.	.	splicing	ENSG00000174448(ENST00000580990:exon4:c.107+1G>T;ENST00000581310:exon8:c.385+1G>T;ENST00000307844:exon5:c.385+1G>T)	.	.	0.999976475802857	0.906
18	51858111	C	G	18	54331741	y	y	splicing	STARD6(NM_139171:exon5:c.385+1G>C)	.	.	splicing	ENSG00000174448(ENST00000580990:exon4:c.107+1G>C;ENST00000581310:exon8:c.385+1G>C;ENST00000307844:exon5:c.385+1G>C)	.	.	0.999976475802857	0.908
18	51858111	C	T	18	54331741	y	y	splicing	STARD6(NM_139171:exon5:c.385+1G>A)	.	.	splicing	ENSG00000174448(ENST00000580990:exon4:c.107+1G>A;ENST00000581310:exon8:c.385+1G>A;ENST00000307844:exon5:c.385+1G>A)	.	.	0.999970205305079	0.92
18	51858112	A	C	18	54331742	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.T385G:p.S129A;	exonic	ENSG00000174448	stopgain SNV	ENSG00000174448:ENST00000580990:exon3:c.T107G:p.L36X;	8.74681496242466E-4	0.216
18	51858112	A	G	18	54331742	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.T385C:p.S129P;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon3:c.T107C:p.L36S;ENSG00000174448:ENST00000581310:exon7:c.T385C:p.S129P;ENSG00000174448:ENST00000307844:exon4:c.T385C:p.S129P;	2.79718771336481E-5	0.04
18	51858112	A	T	18	54331742	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.T385A:p.S129T;	exonic	ENSG00000174448	stopgain SNV	ENSG00000174448:ENST00000580990:exon3:c.T107A:p.L36X;	0.0015887209673307	0.132
18	51858113	A	C	18	54331743	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.T384G:p.S128R;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon3:c.T106G:p.L36V;ENSG00000174448:ENST00000581310:exon7:c.T384G:p.S128R;ENSG00000174448:ENST00000307844:exon4:c.T384G:p.S128R;	4.69538797081765E-5	0.014
18	51858113	A	G	18	54331743	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon4:c.T384C:p.S128S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000580990:exon3:c.T106C:p.L36L;ENSG00000174448:ENST00000581310:exon7:c.T384C:p.S128S;ENSG00000174448:ENST00000307844:exon4:c.T384C:p.S128S;	2.78389654127837E-5	0.004
18	51858113	A	T	18	54331743	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.T384A:p.S128R;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon3:c.T106A:p.L36I;ENSG00000174448:ENST00000581310:exon7:c.T384A:p.S128R;ENSG00000174448:ENST00000307844:exon4:c.T384A:p.S128R;	4.56779521209261E-5	0.078
18	51858114	C	A	18	54331744	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.G383T:p.S128I;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon3:c.G105T:p.Q35H;ENSG00000174448:ENST00000581310:exon7:c.G383T:p.S128I;ENSG00000174448:ENST00000307844:exon4:c.G383T:p.S128I;	0.0013040959331721	0.102
18	51858114	C	G	18	54331744	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.G383C:p.S128T;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000580990:exon3:c.G105C:p.Q35H;ENSG00000174448:ENST00000581310:exon7:c.G383C:p.S128T;ENSG00000174448:ENST00000307844:exon4:c.G383C:p.S128T;	3.177118935878E-4	0.018
18	51858114	C	T	18	54331744	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.G383A:p.S128N;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon7:c.G383A:p.S128N;ENSG00000174448:ENST00000307844:exon4:c.G383A:p.S128N;	1.39392562342447E-4	0.01
18	51858228	T	A	18	54331858	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.A269T:p.D90V;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon7:c.A269T:p.D90V;ENSG00000174448:ENST00000307844:exon4:c.A269T:p.D90V;	0.0570308388665213	0.204
18	51858228	T	C	18	54331858	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.A269G:p.D90G;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon7:c.A269G:p.D90G;ENSG00000174448:ENST00000307844:exon4:c.A269G:p.D90G;	0.0290352126467824	0.152
18	51858228	T	G	18	54331858	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.A269C:p.D90A;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon7:c.A269C:p.D90A;ENSG00000174448:ENST00000307844:exon4:c.A269C:p.D90A;	0.167668484440795	0.282
18	51858229	C	A	18	54331859	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.G268T:p.D90Y;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon7:c.G268T:p.D90Y;ENSG00000174448:ENST00000307844:exon4:c.G268T:p.D90Y;	0.999604428282359	0.97
18	51858229	C	G	18	54331859	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.G268C:p.D90H;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon7:c.G268C:p.D90H;ENSG00000174448:ENST00000307844:exon4:c.G268C:p.D90H;	0.994972477331443	0.904
18	51858229	C	T	18	54331859	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon4:c.G268A:p.D90N;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon7:c.G268A:p.D90N;ENSG00000174448:ENST00000307844:exon4:c.G268A:p.D90N;	0.94064607854057	0.518
18	51858230	C	A	18	54331860	y	y	splicing	STARD6(NM_139171:exon5:c.268-1G>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon8:c.268-1G>T;ENST00000307844:exon5:c.268-1G>T)	.	.	0.999992425382947	0.94
18	51858230	C	G	18	54331860	y	y	splicing	STARD6(NM_139171:exon5:c.268-1G>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon8:c.268-1G>C;ENST00000307844:exon5:c.268-1G>C)	.	.	0.999992425382947	0.94
18	51858230	C	T	18	54331860	y	y	splicing	STARD6(NM_139171:exon5:c.268-1G>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon8:c.268-1G>A;ENST00000307844:exon5:c.268-1G>A)	.	.	0.999992425382947	0.94
18	51858231	T	A	18	54331861	y	y	splicing	STARD6(NM_139171:exon5:c.268-2A>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon8:c.268-2A>T;ENST00000307844:exon5:c.268-2A>T)	.	.	0.999990764389106	0.942
18	51858231	T	C	18	54331861	y	y	splicing	STARD6(NM_139171:exon5:c.268-2A>G)	.	.	splicing	ENSG00000174448(ENST00000581310:exon8:c.268-2A>G;ENST00000307844:exon5:c.268-2A>G)	.	.	0.999990764389106	0.942
18	51858231	T	G	18	54331861	y	y	splicing	STARD6(NM_139171:exon5:c.268-2A>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon8:c.268-2A>C;ENST00000307844:exon5:c.268-2A>C)	.	.	0.999990764389106	0.942
18	51858232	G	A	18	54331862	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.611173996919004	0.42
18	51858232	G	C	18	54331862	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999954576436349	0.968
18	51858232	G	T	18	54331862	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999844388871667	0.946
18	51858233	C	A	18	54331863	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.83412146260769E-4	0.032
18	51858233	C	G	18	54331863	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.81489699116617E-4	0.032
18	51858233	C	T	18	54331863	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	6.38871592584487E-4	0.028
18	51858234	A	C	18	54331864	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.992203568289425	0.798
18	51858234	A	G	18	54331864	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0301899800157139	0.172
18	51858234	A	T	18	54331864	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999808330945972	0.968
18	51858235	A	C	18	54331865	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.996770903580358	0.886
18	51858235	A	G	18	54331865	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.102640151511066	0.322
18	51858235	A	T	18	54331865	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.996983522503799	0.87
18	51858236	C	A	18	54331866	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0015748547083727	0.048
18	51858236	C	G	18	54331866	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00210415667392313	0.046
18	51858236	C	T	18	54331866	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.028716799366349	0.132
18	51858237	A	C	18	54331867	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.982364726914667	0.842
18	51858237	A	G	18	54331867	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00192784127475617	0.132
18	51858237	A	T	18	54331867	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999898958614922	0.984
18	51858238	A	C	18	54331868	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.998445643829064	0.806
18	51858238	A	G	18	54331868	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.101169570759552	0.368
18	51858238	A	T	18	54331868	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999047002821439	0.894
18	51858239	A	C	18	54331869	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999979335828267	0.98
18	51858239	A	G	18	54331869	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0931133477927615	0.258
18	51858239	A	T	18	54331869	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.984392147176077	0.776
18	51858240	T	A	18	54331870	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0238885072010383	0.158
18	51858240	T	C	18	54331870	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0142111067794208	0.13
18	51858240	T	G	18	54331870	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00542489966276074	0.074
18	51858241	C	A	18	54331871	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.61076481316562E-5	0.006
18	51858241	C	G	18	54331871	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.35714407611758E-5	0.002
18	51858241	C	T	18	54331871	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.89065828398729E-4	0.014
18	51863487	C	A	18	54337117	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.49041150182958E-4	0.14
18	51863487	C	G	18	54337117	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.44749051030918E-4	0.02
18	51863487	C	T	18	54337117	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.74219791631518E-4	0.03
18	51863488	A	C	18	54337118	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.59830103862841E-4	0.008
18	51863488	A	G	18	54337118	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	6.17103959559024E-4	0.01
18	51863488	A	T	18	54337118	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00237449492822158	0.034
18	51863489	A	C	18	54337119	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.072265466887739	0.332
18	51863489	A	G	18	54337119	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.937704554300611	0.682
18	51863489	A	T	18	54337119	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0526916788502166	0.308
18	51863490	A	C	18	54337120	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00131289250096838	0.04
18	51863490	A	G	18	54337120	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0129436471517813	0.14
18	51863490	A	T	18	54337120	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0211482498663455	0.122
18	51863491	T	A	18	54337121	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.998963715268894	0.918
18	51863491	T	C	18	54337121	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.996455400303907	0.958
18	51863491	T	G	18	54337121	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.995346473082763	0.838
18	51863492	T	A	18	54337122	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999935847476554	0.976
18	51863492	T	C	18	54337122	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.99663163690998	0.926
18	51863492	T	G	18	54337122	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999935847476554	0.972
18	51863493	A	C	18	54337123	y	y	splicing	STARD6(NM_139171:exon4:c.267+2T>G)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.267+2T>G;ENST00000307844:exon4:c.267+2T>G)	.	.	0.999988247793601	0.948
18	51863493	A	G	18	54337123	y	y	splicing	STARD6(NM_139171:exon4:c.267+2T>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.267+2T>C;ENST00000307844:exon4:c.267+2T>C)	.	.	0.997244204344036	0.73
18	51863493	A	T	18	54337123	y	y	splicing	STARD6(NM_139171:exon4:c.267+2T>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.267+2T>A;ENST00000307844:exon4:c.267+2T>A)	.	.	0.999988247793601	0.948
18	51863494	C	A	18	54337124	y	y	splicing	STARD6(NM_139171:exon4:c.267+1G>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.267+1G>T;ENST00000307844:exon4:c.267+1G>T)	.	.	0.999981760802075	0.948
18	51863494	C	G	18	54337124	y	y	splicing	STARD6(NM_139171:exon4:c.267+1G>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.267+1G>C;ENST00000307844:exon4:c.267+1G>C)	.	.	0.999981760802075	0.948
18	51863494	C	T	18	54337124	y	y	splicing	STARD6(NM_139171:exon4:c.267+1G>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.267+1G>A;ENST00000307844:exon4:c.267+1G>A)	.	.	0.999981760802075	0.948
18	51863495	C	A	18	54337125	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon3:c.G267T:p.S89S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.G267T:p.S89S;ENSG00000174448:ENST00000307844:exon3:c.G267T:p.S89S;	0.999983964005987	1.0
18	51863495	C	G	18	54337125	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon3:c.G267C:p.S89S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.G267C:p.S89S;ENSG00000174448:ENST00000307844:exon3:c.G267C:p.S89S;	0.999986194130388	0.988
18	51863495	C	T	18	54337125	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon3:c.G267A:p.S89S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.G267A:p.S89S;ENSG00000174448:ENST00000307844:exon3:c.G267A:p.S89S;	0.99999040551565	1.0
18	51863496	G	A	18	54337126	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon3:c.C266T:p.S89L;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.C266T:p.S89L;ENSG00000174448:ENST00000307844:exon3:c.C266T:p.S89L;	7.90165087631592E-4	0.05
18	51863496	G	C	18	54337126	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon3:c.C266G:p.S89W;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.C266G:p.S89W;ENSG00000174448:ENST00000307844:exon3:c.C266G:p.S89W;	0.001113243609828	0.098
18	51863496	G	T	18	54337126	y	y	exonic	STARD6	stopgain SNV	STARD6:NM_139171:exon3:c.C266A:p.S89X;	exonic	ENSG00000174448	stopgain SNV	ENSG00000174448:ENST00000581310:exon6:c.C266A:p.S89X;ENSG00000174448:ENST00000307844:exon3:c.C266A:p.S89X;	3.16860096387717E-4	0.234
18	51863497	A	C	18	54337127	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon3:c.T265G:p.S89A;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.T265G:p.S89A;ENSG00000174448:ENST00000307844:exon3:c.T265G:p.S89A;	1.43111606962722E-4	0.05
18	51863497	A	G	18	54337127	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon3:c.T265C:p.S89P;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.T265C:p.S89P;ENSG00000174448:ENST00000307844:exon3:c.T265C:p.S89P;	4.18733120564231E-5	0.064
18	51863497	A	T	18	54337127	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon3:c.T265A:p.S89T;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.T265A:p.S89T;ENSG00000174448:ENST00000307844:exon3:c.T265A:p.S89T;	1.23479742686075E-4	0.002
18	51863620	A	C	18	54337250	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon3:c.T142G:p.Y48D;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.T142G:p.Y48D;ENSG00000174448:ENST00000307844:exon3:c.T142G:p.Y48D;	0.563521521982073	0.352
18	51863620	A	G	18	54337250	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon3:c.T142C:p.Y48H;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.T142C:p.Y48H;ENSG00000174448:ENST00000307844:exon3:c.T142C:p.Y48H;	0.562713609034187	0.416
18	51863620	A	T	18	54337250	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon3:c.T142A:p.Y48N;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.T142A:p.Y48N;ENSG00000174448:ENST00000307844:exon3:c.T142A:p.Y48N;	0.562713609034187	0.384
18	51863621	T	A	18	54337251	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon3:c.A141T:p.L47L;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.A141T:p.L47L;ENSG00000174448:ENST00000307844:exon3:c.A141T:p.L47L;	0.00959777145556908	0.112
18	51863621	T	C	18	54337251	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon3:c.A141G:p.L47L;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.A141G:p.L47L;ENSG00000174448:ENST00000307844:exon3:c.A141G:p.L47L;	1.78441610756766E-4	0.006
18	51863621	T	G	18	54337251	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon3:c.A141C:p.L47L;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon6:c.A141C:p.L47L;ENSG00000174448:ENST00000307844:exon3:c.A141C:p.L47L;	0.00835005831247447	0.168
18	51863622	C	A	18	54337252	y	y	splicing	STARD6(NM_139171:exon4:c.141-1G>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.141-1G>T;ENST00000307844:exon4:c.141-1G>T)	.	.	0.999985532734767	0.938
18	51863622	C	G	18	54337252	y	y	splicing	STARD6(NM_139171:exon4:c.141-1G>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.141-1G>C;ENST00000307844:exon4:c.141-1G>C)	.	.	0.999985532734767	0.938
18	51863622	C	T	18	54337252	y	y	splicing	STARD6(NM_139171:exon4:c.141-1G>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.141-1G>A;ENST00000307844:exon4:c.141-1G>A)	.	.	0.999985532734767	0.938
18	51863623	T	A	18	54337253	y	y	splicing	STARD6(NM_139171:exon4:c.141-2A>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.141-2A>T;ENST00000307844:exon4:c.141-2A>T)	.	.	0.999978952611685	0.926
18	51863623	T	C	18	54337253	y	y	splicing	STARD6(NM_139171:exon4:c.141-2A>G)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.141-2A>G;ENST00000307844:exon4:c.141-2A>G)	.	.	0.99994568797423	0.926
18	51863623	T	G	18	54337253	y	y	splicing	STARD6(NM_139171:exon4:c.141-2A>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon7:c.141-2A>C;ENST00000307844:exon4:c.141-2A>C)	.	.	0.99994568797423	0.926
18	51863624	A	C	18	54337254	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.855326449944141	0.716
18	51863624	A	G	18	54337254	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	4.19510040537969E-5	0.0
18	51863624	A	T	18	54337254	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0161762869869018	0.324
18	51863625	C	A	18	54337255	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.08240466956362E-5	0.066
18	51863625	C	G	18	54337255	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.6262849731022E-5	0.0
18	51863625	C	T	18	54337255	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.42566045255471E-5	0.0
18	51863626	A	C	18	54337256	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.283037277684386	0.476
18	51863626	A	G	18	54337256	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.02723240811952E-5	0.034
18	51863626	A	T	18	54337256	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999423455391031	0.952
18	51863627	G	A	18	54337257	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.04589316176654E-5	0.002
18	51863627	G	C	18	54337257	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999875231059311	0.964
18	51863627	G	T	18	54337257	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00274687467588132	0.146
18	51863628	T	A	18	54337258	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.32829462561356E-4	0.0
18	51863628	T	C	18	54337258	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.997817989512663	0.978
18	51863628	T	G	18	54337258	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.32829462561356E-4	0.0
18	51863629	T	A	18	54337259	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	7.34312450725354E-4	0.016
18	51863629	T	C	18	54337259	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	9.59460305126034E-4	0.046
18	51863629	T	G	18	54337259	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	4.95001895396012E-4	0.012
18	51863630	A	C	18	54337260	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.734649490668114	0.508
18	51863630	A	G	18	54337260	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.72605391660973E-4	0.038
18	51863630	A	T	18	54337260	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.502305482943959	0.52
18	51863631	A	C	18	54337261	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.470182010797531	0.4
18	51863631	A	G	18	54337261	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00338958203224574	0.158
18	51863631	A	T	18	54337261	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0214718800331489	0.242
18	51863632	C	A	18	54337262	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.75686101803675E-5	0.046
18	51863632	C	G	18	54337262	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.95792866086172E-5	0.0
18	51863632	C	T	18	54337262	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.68274562628876E-4	0.004
18	51863633	A	C	18	54337263	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.238934138671071	0.396
18	51863633	A	G	18	54337263	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.0014272479689539	0.062
18	51863633	A	T	18	54337263	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999925130902402	0.964
18	51880416	G	A	18	54354046	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	8.61088009985798E-5	0.0
18	51880416	G	C	18	54354046	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	1.98846882863725E-5	0.0
18	51880416	G	T	18	54354046	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	1.29115481089849E-4	0.022
18	51880417	T	A	18	54354047	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.00331428154718663	0.016
18	51880417	T	C	18	54354047	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.00193228315328735	0.022
18	51880417	T	G	18	54354047	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.00288846073913644	0.016
18	51880418	A	C	18	54354048	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.976357988239849	0.83
18	51880418	A	G	18	54354048	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.988775110131902	0.866
18	51880418	A	T	18	54354048	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.997604085013998	0.766
18	51880419	C	A	18	54354049	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.999977863608513	0.974
18	51880419	C	G	18	54354049	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.999987452267156	0.976
18	51880419	C	T	18	54354049	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.999947523333339	0.992
18	51880420	T	A	18	54354050	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.999750476257453	0.874
18	51880420	T	C	18	54354050	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.999646503905944	0.89
18	51880420	T	G	18	54354050	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.997827867441465	0.852
18	51880421	C	A	18	54354051	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.995134335027453	0.746
18	51880421	C	G	18	54354051	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	0.994677892895852	0.768
18	51880421	C	T	18	54354051	y	y	intronic	STARD6	.	.	UTR3	ENSG00000174448	.	.	2.78195474830575E-4	0.036
18	51880422	A	C	18	54354052	y	y	splicing	STARD6(NM_139171:exon3:c.140+2T>G)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.140+2T>G;ENST00000307844:exon3:c.140+2T>G)	.	.	0.999975839290682	0.89
18	51880422	A	G	18	54354052	y	y	splicing	STARD6(NM_139171:exon3:c.140+2T>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.140+2T>C;ENST00000307844:exon3:c.140+2T>C)	.	.	0.999975333613016	0.89
18	51880422	A	T	18	54354052	y	y	splicing	STARD6(NM_139171:exon3:c.140+2T>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.140+2T>A;ENST00000307844:exon3:c.140+2T>A)	.	.	0.999978680481481	0.912
18	51880423	C	A	18	54354053	y	y	splicing	STARD6(NM_139171:exon3:c.140+1G>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.140+1G>T;ENST00000307844:exon3:c.140+1G>T)	.	.	0.999970257637075	0.898
18	51880423	C	G	18	54354053	y	y	splicing	STARD6(NM_139171:exon3:c.140+1G>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.140+1G>C;ENST00000307844:exon3:c.140+1G>C)	.	.	0.999970257637075	0.892
18	51880423	C	T	18	54354053	y	y	splicing	STARD6(NM_139171:exon3:c.140+1G>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.140+1G>A;ENST00000307844:exon3:c.140+1G>A)	.	.	0.999973062297285	0.896
18	51880424	A	C	18	54354054	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.T140G:p.L47R;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.T140G:p.L47R;ENSG00000174448:ENST00000307844:exon2:c.T140G:p.L47R;	0.0206780097009652	0.142
18	51880424	A	G	18	54354054	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.T140C:p.L47P;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.T140C:p.L47P;ENSG00000174448:ENST00000307844:exon2:c.T140C:p.L47P;	0.783181994680154	0.698
18	51880424	A	T	18	54354054	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.T140A:p.L47Q;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.T140A:p.L47Q;ENSG00000174448:ENST00000307844:exon2:c.T140A:p.L47Q;	0.416075624012817	0.508
18	51880425	G	A	18	54354055	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon2:c.C139T:p.L47L;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.C139T:p.L47L;ENSG00000174448:ENST00000307844:exon2:c.C139T:p.L47L;	2.9169262554737E-4	0.05
18	51880425	G	C	18	54354055	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.C139G:p.L47V;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.C139G:p.L47V;ENSG00000174448:ENST00000307844:exon2:c.C139G:p.L47V;	0.00110152991609772	0.194
18	51880425	G	T	18	54354055	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.C139A:p.L47I;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.C139A:p.L47I;ENSG00000174448:ENST00000307844:exon2:c.C139A:p.L47I;	0.00163426812784488	0.164
18	51880426	A	C	18	54354056	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.T138G:p.N46K;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.T138G:p.N46K;ENSG00000174448:ENST00000307844:exon2:c.T138G:p.N46K;	1.34389723225672E-5	0.028
18	51880426	A	G	18	54354056	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon2:c.T138C:p.N46N;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.T138C:p.N46N;ENSG00000174448:ENST00000307844:exon2:c.T138C:p.N46N;	1.19094982617635E-5	0.004
18	51880426	A	T	18	54354056	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.T138A:p.N46K;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.T138A:p.N46K;ENSG00000174448:ENST00000307844:exon2:c.T138A:p.N46K;	1.50572320917101E-5	0.038
18	51880472	T	A	18	54354102	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.A92T:p.K31I;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.A92T:p.K31I;ENSG00000174448:ENST00000307844:exon2:c.A92T:p.K31I;	0.946372834961373	0.656
18	51880472	T	C	18	54354102	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.A92G:p.K31R;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.A92G:p.K31R;ENSG00000174448:ENST00000307844:exon2:c.A92G:p.K31R;	0.959953217437276	0.634
18	51880472	T	G	18	54354102	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.A92C:p.K31T;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.A92C:p.K31T;ENSG00000174448:ENST00000307844:exon2:c.A92C:p.K31T;	0.928983832219186	0.684
18	51880473	T	A	18	54354103	y	y	exonic	STARD6	stopgain SNV	STARD6:NM_139171:exon2:c.A91T:p.K31X;	exonic	ENSG00000174448	stopgain SNV	ENSG00000174448:ENST00000581310:exon5:c.A91T:p.K31X;ENSG00000174448:ENST00000307844:exon2:c.A91T:p.K31X;	0.75140945547319	0.448
18	51880473	T	C	18	54354103	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.A91G:p.K31E;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.A91G:p.K31E;ENSG00000174448:ENST00000307844:exon2:c.A91G:p.K31E;	0.719785139037287	0.708
18	51880473	T	G	18	54354103	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon2:c.A91C:p.K31Q;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon5:c.A91C:p.K31Q;ENSG00000174448:ENST00000307844:exon2:c.A91C:p.K31Q;	0.793178788531904	0.49
18	51880474	C	A	18	54354104	y	y	splicing	STARD6(NM_139171:exon3:c.91-1G>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.91-1G>T;ENST00000307844:exon3:c.91-1G>T)	.	.	0.999981919071965	0.886
18	51880474	C	G	18	54354104	y	y	splicing	STARD6(NM_139171:exon3:c.91-1G>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.91-1G>C;ENST00000307844:exon3:c.91-1G>C)	.	.	0.999981919071965	0.882
18	51880474	C	T	18	54354104	y	y	splicing	STARD6(NM_139171:exon3:c.91-1G>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.91-1G>A;ENST00000307844:exon3:c.91-1G>A)	.	.	0.999981919071965	0.886
18	51880475	T	A	18	54354105	y	y	splicing	STARD6(NM_139171:exon3:c.91-2A>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.91-2A>T;ENST00000307844:exon3:c.91-2A>T)	.	.	0.99994515364607	0.888
18	51880475	T	C	18	54354105	y	y	splicing	STARD6(NM_139171:exon3:c.91-2A>G)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.91-2A>G;ENST00000307844:exon3:c.91-2A>G)	.	.	0.99994515364607	0.886
18	51880475	T	G	18	54354105	y	y	splicing	STARD6(NM_139171:exon3:c.91-2A>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon6:c.91-2A>C;ENST00000307844:exon3:c.91-2A>C)	.	.	0.99994515364607	0.886
18	51880476	C	A	18	54354106	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.00944415361284611	0.152
18	51880476	C	G	18	54354106	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.00209006283853377	0.138
18	51880476	C	T	18	54354106	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.205628717231553	0.346
18	51880477	A	C	18	54354107	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.11469736794782	0.162
18	51880477	A	G	18	54354107	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	3.17500689159676E-4	0.038
18	51880477	A	T	18	54354107	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.238202276370803	0.156
18	51880478	A	C	18	54354108	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.966077257613771	0.708
18	51880478	A	G	18	54354108	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.673819099273088	0.508
18	51880478	A	T	18	54354108	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.981323145886414	0.706
18	51880479	A	C	18	54354109	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.0493470227176154	0.222
18	51880479	A	G	18	54354109	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.0143124172958635	0.12
18	51880479	A	T	18	54354109	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.0493470227176154	0.21
18	51880480	G	A	18	54354110	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	6.60101186544409E-4	0.206
18	51880480	G	C	18	54354110	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.318862175126193	0.242
18	51880480	G	T	18	54354110	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	9.2834618333184E-4	0.268
18	51880481	G	A	18	54354111	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	5.56634985233527E-4	0.046
18	51880481	G	C	18	54354111	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.264092024114405	0.234
18	51880481	G	T	18	54354111	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.264092024114405	0.262
18	51880482	G	A	18	54354112	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.922485189194405	0.762
18	51880482	G	C	18	54354112	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.976630504002861	0.682
18	51880482	G	T	18	54354112	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.973533658694478	0.68
18	51880483	G	A	18	54354113	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	2.59596681125364E-4	0.362
18	51880483	G	C	18	54354113	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.0111442697969848	0.312
18	51880483	G	T	18	54354113	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.010022637741001	0.318
18	51880484	A	C	18	54354114	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.975525182641608	0.756
18	51880484	A	G	18	54354114	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.590950098472974	0.546
18	51880484	A	T	18	54354114	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.975525182641608	0.764
18	51880485	A	C	18	54354115	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.999902688212337	0.922
18	51880485	A	G	18	54354115	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.637379431872009	0.42
18	51880485	A	T	18	54354115	y	y	intronic	STARD6	.	.	UTR5;UTR3	ENSG00000174448;ENSG00000174448	.	.	0.911408549287928	0.586
18	51880756	A	C	18	54354386	n	y	intronic	STARD6	.	.	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000577499:exon4:c.T92G:p.V31G;ENSG00000174448:ENST00000584040:exon5:c.T92G:p.V31G;	5.37812133402739E-5	0.008
18	51880756	A	G	18	54354386	n	y	intronic	STARD6	.	.	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000577499:exon4:c.T92C:p.V31A;ENSG00000174448:ENST00000584040:exon5:c.T92C:p.V31A;	5.37812133402739E-5	0.01
18	51880756	A	T	18	54354386	n	y	intronic	STARD6	.	.	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000577499:exon4:c.T92A:p.V31E;ENSG00000174448:ENST00000584040:exon5:c.T92A:p.V31E;	5.37812133402739E-5	0.008
18	51880757	C	A	18	54354387	n	y	intronic	STARD6	.	.	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000577499:exon4:c.G91T:p.V31L;ENSG00000174448:ENST00000584040:exon5:c.G91T:p.V31L;	1.88506324278405E-5	0.042
18	51880757	C	G	18	54354387	n	y	intronic	STARD6	.	.	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000577499:exon4:c.G91C:p.V31L;ENSG00000174448:ENST00000584040:exon5:c.G91C:p.V31L;	1.88506324278405E-5	0.05
18	51880757	C	T	18	54354387	n	y	intronic	STARD6	.	.	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000577499:exon4:c.G91A:p.V31M;ENSG00000174448:ENST00000584040:exon5:c.G91A:p.V31M;	3.41891638721968E-5	0.05
18	51880758	C	A	18	54354388	n	y	intronic	STARD6	.	.	splicing	ENSG00000174448(ENST00000577499:exon5:c.91-1G>T;ENST00000584040:exon6:c.91-1G>T)	.	.	2.85468194254908E-5	0.17
18	51880758	C	G	18	54354388	n	y	intronic	STARD6	.	.	splicing	ENSG00000174448(ENST00000577499:exon5:c.91-1G>C;ENST00000584040:exon6:c.91-1G>C)	.	.	2.85468194254908E-5	0.17
18	51880758	C	T	18	54354388	n	y	intronic	STARD6	.	.	splicing	ENSG00000174448(ENST00000577499:exon5:c.91-1G>A;ENST00000584040:exon6:c.91-1G>A)	.	.	2.85468194254908E-5	0.104
18	51880759	T	A	18	54354389	n	y	intronic	STARD6	.	.	splicing	ENSG00000174448(ENST00000577499:exon5:c.91-2A>T;ENST00000584040:exon6:c.91-2A>T)	.	.	6.6236404416856E-5	0.012
18	51880759	T	C	18	54354389	n	y	intronic	STARD6	.	.	splicing	ENSG00000174448(ENST00000577499:exon5:c.91-2A>G;ENST00000584040:exon6:c.91-2A>G)	.	.	6.6236404416856E-5	0.012
18	51880759	T	G	18	54354389	n	y	intronic	STARD6	.	.	splicing	ENSG00000174448(ENST00000577499:exon5:c.91-2A>C;ENST00000584040:exon6:c.91-2A>C)	.	.	6.6236404416856E-5	0.012
18	51880760	G	A	18	54354390	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.64775358190098E-5	0.076
18	51880760	G	C	18	54354390	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.64775358190098E-5	0.076
18	51880760	G	T	18	54354390	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.64775358190098E-5	0.076
18	51880761	G	A	18	54354391	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.64775358190098E-5	0.076
18	51880761	G	C	18	54354391	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.64775358190098E-5	0.076
18	51880761	G	T	18	54354391	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	5.64775358190098E-5	0.076
18	51880762	A	C	18	54354392	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	7.24315439998527E-5	0.01
18	51880762	A	G	18	54354392	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	4.14301101535901E-5	0.004
18	51880762	A	T	18	54354392	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	7.24315439998527E-5	0.01
18	51880763	A	C	18	54354393	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.37213739574818E-4	0.074
18	51880763	A	G	18	54354393	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.37213739574818E-4	0.072
18	51880763	A	T	18	54354393	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.37213739574818E-4	0.092
18	51880764	C	A	18	54354394	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.41891638721968E-5	0.05
18	51880764	C	G	18	54354394	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.41891638721968E-5	0.05
18	51880764	C	T	18	54354394	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.41891638721968E-5	0.05
18	51880765	A	C	18	54354395	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	4.21961668803587E-5	0.066
18	51880765	A	G	18	54354395	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	4.21961668803587E-5	0.066
18	51880765	A	T	18	54354395	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	4.21961668803587E-5	0.064
18	51880766	G	A	18	54354396	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.70401990492453E-5	0.044
18	51880766	G	C	18	54354396	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.70401990492453E-5	0.022
18	51880766	G	T	18	54354396	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	8.70401990492453E-5	0.026
18	51880767	A	C	18	54354397	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.83154561552295E-5	0.096
18	51880767	A	G	18	54354397	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.83154561552295E-5	0.096
18	51880767	A	T	18	54354397	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.83154561552295E-5	0.08
18	51880768	A	C	18	54354398	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.96532199348666E-5	0.0
18	51880768	A	G	18	54354398	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.96532199348666E-5	0.0
18	51880768	A	T	18	54354398	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.16657811451597E-5	0.004
18	51880769	A	C	18	54354399	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.99367426533026E-5	0.008
18	51880769	A	G	18	54354399	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	3.99367426533026E-5	0.008
18	51880769	A	T	18	54354399	n	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.91793985515066E-5	0.0
18	51880846	T	A	18	54354476	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.30627708271285E-4	0.002
18	51880846	T	C	18	54354476	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.43353011224805E-4	0.012
18	51880846	T	G	18	54354476	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.43353011224805E-4	0.012
18	51880847	T	A	18	54354477	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00252208631838424	0.05
18	51880847	T	C	18	54354477	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00122638685528397	0.024
18	51880847	T	G	18	54354477	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00145458400177137	0.026
18	51880848	T	A	18	54354478	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	1.85127849959685E-4	0.066
18	51880848	T	C	18	54354478	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.49547825390638E-4	0.054
18	51880848	T	G	18	54354478	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	2.69344810997767E-4	0.056
18	51880849	C	A	18	54354479	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999975337643574	0.966
18	51880849	C	G	18	54354479	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999975337643574	0.988
18	51880849	C	T	18	54354479	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999953173670839	0.994
18	51880850	T	A	18	54354480	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999946367468533	0.884
18	51880850	T	C	18	54354480	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999829389766743	0.882
18	51880850	T	G	18	54354480	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999891799218663	0.876
18	51880851	T	A	18	54354481	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999775327973554	0.9
18	51880851	T	C	18	54354481	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.900686696255601	0.548
18	51880851	T	G	18	54354481	y	y	intronic	STARD6	.	.	intronic	ENSG00000174448	.	.	0.999787263558039	0.888
18	51880852	A	C	18	54354482	y	y	splicing	STARD6(NM_139171:exon2:c.90+2T>G)	.	.	splicing	ENSG00000174448(ENST00000581310:exon5:c.90+2T>G;ENST00000307844:exon2:c.90+2T>G;ENST00000577499:exon4:c.90+2T>G;ENST00000584040:exon5:c.90+2T>G)	.	.	0.999933297680006	0.798
18	51880852	A	G	18	54354482	y	y	splicing	STARD6(NM_139171:exon2:c.90+2T>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon5:c.90+2T>C;ENST00000307844:exon2:c.90+2T>C;ENST00000577499:exon4:c.90+2T>C;ENST00000584040:exon5:c.90+2T>C)	.	.	0.999693233165574	0.698
18	51880852	A	T	18	54354482	y	y	splicing	STARD6(NM_139171:exon2:c.90+2T>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon5:c.90+2T>A;ENST00000307844:exon2:c.90+2T>A;ENST00000577499:exon4:c.90+2T>A;ENST00000584040:exon5:c.90+2T>A)	.	.	0.999933297680006	0.8
18	51880853	C	A	18	54354483	y	y	splicing	STARD6(NM_139171:exon2:c.90+1G>T)	.	.	splicing	ENSG00000174448(ENST00000581310:exon5:c.90+1G>T;ENST00000307844:exon2:c.90+1G>T;ENST00000577499:exon4:c.90+1G>T;ENST00000584040:exon5:c.90+1G>T)	.	.	0.999969448938473	0.786
18	51880853	C	G	18	54354483	y	y	splicing	STARD6(NM_139171:exon2:c.90+1G>C)	.	.	splicing	ENSG00000174448(ENST00000581310:exon5:c.90+1G>C;ENST00000307844:exon2:c.90+1G>C;ENST00000577499:exon4:c.90+1G>C;ENST00000584040:exon5:c.90+1G>C)	.	.	0.999969448938473	0.786
18	51880853	C	T	18	54354483	y	y	splicing	STARD6(NM_139171:exon2:c.90+1G>A)	.	.	splicing	ENSG00000174448(ENST00000581310:exon5:c.90+1G>A;ENST00000307844:exon2:c.90+1G>A;ENST00000577499:exon4:c.90+1G>A;ENST00000584040:exon5:c.90+1G>A)	.	.	0.999969448938473	0.786
18	51880854	T	A	18	54354484	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon1:c.A90T:p.S30S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon4:c.A90T:p.S30S;ENSG00000174448:ENST00000307844:exon1:c.A90T:p.S30S;ENSG00000174448:ENST00000577499:exon3:c.A90T:p.S30S;ENSG00000174448:ENST00000584040:exon4:c.A90T:p.S30S;	0.0103244193628872	0.14
18	51880854	T	C	18	54354484	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon1:c.A90G:p.S30S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon4:c.A90G:p.S30S;ENSG00000174448:ENST00000307844:exon1:c.A90G:p.S30S;ENSG00000174448:ENST00000577499:exon3:c.A90G:p.S30S;ENSG00000174448:ENST00000584040:exon4:c.A90G:p.S30S;	0.00184994543523058	0.094
18	51880854	T	G	18	54354484	y	y	exonic	STARD6	synonymous SNV	STARD6:NM_139171:exon1:c.A90C:p.S30S;	exonic	ENSG00000174448	synonymous SNV	ENSG00000174448:ENST00000581310:exon4:c.A90C:p.S30S;ENSG00000174448:ENST00000307844:exon1:c.A90C:p.S30S;ENSG00000174448:ENST00000577499:exon3:c.A90C:p.S30S;ENSG00000174448:ENST00000584040:exon4:c.A90C:p.S30S;	0.002680576720871	0.196
18	51880855	G	A	18	54354485	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon1:c.C89T:p.S30L;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon4:c.C89T:p.S30L;ENSG00000174448:ENST00000307844:exon1:c.C89T:p.S30L;ENSG00000174448:ENST00000577499:exon3:c.C89T:p.S30L;ENSG00000174448:ENST00000584040:exon4:c.C89T:p.S30L;	0.988739468521791	0.592
18	51880855	G	C	18	54354485	y	y	exonic	STARD6	stopgain SNV	STARD6:NM_139171:exon1:c.C89G:p.S30X;	exonic	ENSG00000174448	stopgain SNV	ENSG00000174448:ENST00000581310:exon4:c.C89G:p.S30X;ENSG00000174448:ENST00000307844:exon1:c.C89G:p.S30X;ENSG00000174448:ENST00000577499:exon3:c.C89G:p.S30X;ENSG00000174448:ENST00000584040:exon4:c.C89G:p.S30X;	0.478921046439215	0.47
18	51880855	G	T	18	54354485	y	y	exonic	STARD6	stopgain SNV	STARD6:NM_139171:exon1:c.C89A:p.S30X;	exonic	ENSG00000174448	stopgain SNV	ENSG00000174448:ENST00000581310:exon4:c.C89A:p.S30X;ENSG00000174448:ENST00000307844:exon1:c.C89A:p.S30X;ENSG00000174448:ENST00000577499:exon3:c.C89A:p.S30X;ENSG00000174448:ENST00000584040:exon4:c.C89A:p.S30X;	0.13669524345489	0.342
18	51880856	A	C	18	54354486	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon1:c.T88G:p.S30A;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon4:c.T88G:p.S30A;ENSG00000174448:ENST00000307844:exon1:c.T88G:p.S30A;ENSG00000174448:ENST00000577499:exon3:c.T88G:p.S30A;ENSG00000174448:ENST00000584040:exon4:c.T88G:p.S30A;	0.00113321604247647	0.034
18	51880856	A	G	18	54354486	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon1:c.T88C:p.S30P;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon4:c.T88C:p.S30P;ENSG00000174448:ENST00000307844:exon1:c.T88C:p.S30P;ENSG00000174448:ENST00000577499:exon3:c.T88C:p.S30P;ENSG00000174448:ENST00000584040:exon4:c.T88C:p.S30P;	3.12011943595236E-4	0.018
18	51880856	A	T	18	54354486	y	y	exonic	STARD6	nonsynonymous SNV	STARD6:NM_139171:exon1:c.T88A:p.S30T;	exonic	ENSG00000174448	nonsynonymous SNV	ENSG00000174448:ENST00000581310:exon4:c.T88A:p.S30T;ENSG00000174448:ENST00000307844:exon1:c.T88A:p.S30T;ENSG00000174448:ENST00000577499:exon3:c.T88A:p.S30T;ENSG00000174448:ENST00000584040:exon4:c.T88A:p.S30T;	4.49134496221679E-5	0.026
18	51880946	A	C	18	54354576	n	y	upstream	STARD6	.	.	UTR5	ENSG00000174448	.	.	2.27894185937647E-5	0.008
18	51880946	A	G	18	54354576	n	y	upstream	STARD6	.	.	UTR5	ENSG00000174448	.	.	2.27894185937647E-5	0.008
18	51880946	A	T	18	54354576	n	y	upstream	STARD6	.	.	UTR5	ENSG00000174448	.	.	4.22811490596864E-5	0.008
18	51880947	T	A	18	54354577	n	y	upstream	STARD6	.	.	UTR5	ENSG00000174448	.	.	3.78205327723092E-5	0.006
18	51880947	T	C	18	54354577	n	y	upstream	STARD6	.	.	UTR5	ENSG00000174448	.	.	3.78205327723092E-5	0.004
18	51880947	T	G	18	54354577	n	y	upstream	STARD6	.	.	UTR5	ENSG00000174448	.	.	3.78205327723092E-5	0.004
18	51880948	C	A	18	54354578	n	y	upstream	STARD6	.	.	splicing	ENSG00000174448	.	.	0.00215078253042982	0.032
18	51880948	C	G	18	54354578	n	y	upstream	STARD6	.	.	splicing	ENSG00000174448	.	.	0.00215078253042982	0.032
18	51880948	C	T	18	54354578	n	y	upstream	STARD6	.	.	splicing	ENSG00000174448	.	.	0.00215078253042982	0.032
18	51880949	T	A	18	54354579	n	y	upstream	STARD6	.	.	splicing	ENSG00000174448	.	.	0.00602217153505321	0.022
18	51880949	T	C	18	54354579	n	y	upstream	STARD6	.	.	splicing	ENSG00000174448	.	.	0.00407745055844216	0.02
18	51880949	T	G	18	54354579	n	y	upstream	STARD6	.	.	splicing	ENSG00000174448	.	.	0.00407745055844216	0.022
18	51880950	G	A	18	54354580	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00110797651291257	0.0
18	51880950	G	C	18	54354580	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	9.59636133280018E-4	0.0
18	51880950	G	T	18	54354580	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00110797651291257	0.0
18	51880951	C	A	18	54354581	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	1.58927937202005E-5	0.002
18	51880951	C	G	18	54354581	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	1.58927937202005E-5	0.002
18	51880951	C	T	18	54354581	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	1.71486889510802E-5	0.002
18	51880952	A	C	18	54354582	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	5.18107364807457E-4	0.026
18	51880952	A	G	18	54354582	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	5.18107364807457E-4	0.026
18	51880952	A	T	18	54354582	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	9.33760749665166E-4	0.024
18	51880953	A	C	18	54354583	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	5.18107364807457E-4	0.024
18	51880953	A	G	18	54354583	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	5.18107364807457E-4	0.024
18	51880953	A	T	18	54354583	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	9.33760749665166E-4	0.022
18	51880954	G	A	18	54354584	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	4.78674951653264E-5	0.0
18	51880954	G	C	18	54354584	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	2.63360899965148E-5	0.0
18	51880954	G	T	18	54354584	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	2.63360899965148E-5	0.0
18	51880955	T	A	18	54354585	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	1.92772598195944E-5	0.002
18	51880955	T	C	18	54354585	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	1.92772598195944E-5	0.002
18	51880955	T	G	18	54354585	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	1.92772598195944E-5	0.002
18	51880956	T	A	18	54354586	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00384981395196399	0.066
18	51880956	T	C	18	54354586	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00142985249905209	0.096
18	51880956	T	G	18	54354586	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	0.00142985249905209	0.1
18	51880957	T	A	18	54354587	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	9.56240913431898E-4	0.064
18	51880957	T	C	18	54354587	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	6.22189098280504E-4	0.008
18	51880957	T	G	18	54354587	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	6.90621256176971E-4	0.012
18	51880958	T	A	18	54354588	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	8.11387753439181E-5	0.012
18	51880958	T	C	18	54354588	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	8.9702258060761E-5	0.006
18	51880958	T	G	18	54354588	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	8.9702258060761E-5	0.006
18	51880959	A	C	18	54354589	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	0.224338298974762	0.676
18	51880959	A	G	18	54354589	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	0.26462750959397	0.714
18	51880959	A	T	18	54354589	n	y	upstream	STARD6	.	.	intronic	ENSG00000174448	.	.	0.284555067836095	0.666
18	51882133	G	A	18	54355763	n	y	intergenic	STARD6(dist=1190);C18orf54(dist=2154)	.	.	intronic	ENSG00000174448	.	.	4.92559286361592E-5	0.018
18	51882133	G	C	18	54355763	n	y	intergenic	STARD6(dist=1190);C18orf54(dist=2154)	.	.	intronic	ENSG00000174448	.	.	4.92559286361592E-5	0.016
18	51882133	G	T	18	54355763	n	y	intergenic	STARD6(dist=1190);C18orf54(dist=2154)	.	.	intronic	ENSG00000174448	.	.	4.92559286361592E-5	0.016
18	51882134	A	C	18	54355764	n	y	intergenic	STARD6(dist=1191);C18orf54(dist=2153)	.	.	intronic	ENSG00000174448	.	.	1.89552819446206E-5	0.002
18	51882134	A	G	18	54355764	n	y	intergenic	STARD6(dist=1191);C18orf54(dist=2153)	.	.	intronic	ENSG00000174448	.	.	1.89552819446206E-5	0.002
18	51882134	A	T	18	54355764	n	y	intergenic	STARD6(dist=1191);C18orf54(dist=2153)	.	.	intronic	ENSG00000174448	.	.	1.89552819446206E-5	0.002
18	51882135	C	A	18	54355765	n	y	intergenic	STARD6(dist=1192);C18orf54(dist=2152)	.	.	intronic	ENSG00000174448	.	.	2.45277156108894E-5	0.0
18	51882135	C	G	18	54355765	n	y	intergenic	STARD6(dist=1192);C18orf54(dist=2152)	.	.	intronic	ENSG00000174448	.	.	2.45277156108894E-5	0.0
18	51882135	C	T	18	54355765	n	y	intergenic	STARD6(dist=1192);C18orf54(dist=2152)	.	.	intronic	ENSG00000174448	.	.	2.45277156108894E-5	0.0
18	51882136	A	C	18	54355766	n	y	intergenic	STARD6(dist=1193);C18orf54(dist=2151)	.	.	intronic	ENSG00000174448	.	.	2.18551054981151E-5	0.0
18	51882136	A	G	18	54355766	n	y	intergenic	STARD6(dist=1193);C18orf54(dist=2151)	.	.	intronic	ENSG00000174448	.	.	2.18551054981151E-5	0.0
18	51882136	A	T	18	54355766	n	y	intergenic	STARD6(dist=1193);C18orf54(dist=2151)	.	.	intronic	ENSG00000174448	.	.	3.37582853480714E-5	0.0
18	51882137	T	A	18	54355767	n	y	intergenic	STARD6(dist=1194);C18orf54(dist=2150)	.	.	intronic	ENSG00000174448	.	.	3.37582853480714E-5	0.0
18	51882137	T	C	18	54355767	n	y	intergenic	STARD6(dist=1194);C18orf54(dist=2150)	.	.	intronic	ENSG00000174448	.	.	2.18551054981151E-5	0.0
18	51882137	T	G	18	54355767	n	y	intergenic	STARD6(dist=1194);C18orf54(dist=2150)	.	.	intronic	ENSG00000174448	.	.	2.18551054981151E-5	0.0
18	51882138	A	C	18	54355768	n	y	intergenic	STARD6(dist=1195);C18orf54(dist=2149)	.	.	intronic	ENSG00000174448	.	.	2.18551054981151E-5	0.0
18	51882138	A	G	18	54355768	n	y	intergenic	STARD6(dist=1195);C18orf54(dist=2149)	.	.	intronic	ENSG00000174448	.	.	2.18551054981151E-5	0.0
18	51882138	A	T	18	54355768	n	y	intergenic	STARD6(dist=1195);C18orf54(dist=2149)	.	.	intronic	ENSG00000174448	.	.	2.18551054981151E-5	0.0
18	51882139	A	C	18	54355769	n	y	intergenic	STARD6(dist=1196);C18orf54(dist=2148)	.	.	splicing	ENSG00000174448	.	.	4.7586829694842E-5	0.0
18	51882139	A	G	18	54355769	n	y	intergenic	STARD6(dist=1196);C18orf54(dist=2148)	.	.	splicing	ENSG00000174448	.	.	4.7586829694842E-5	0.0
18	51882139	A	T	18	54355769	n	y	intergenic	STARD6(dist=1196);C18orf54(dist=2148)	.	.	splicing	ENSG00000174448	.	.	8.64905445396362E-5	0.0
18	51882140	C	A	18	54355770	n	y	intergenic	STARD6(dist=1197);C18orf54(dist=2147)	.	.	splicing	ENSG00000174448	.	.	4.35742017695309E-5	0.002
18	51882140	C	G	18	54355770	n	y	intergenic	STARD6(dist=1197);C18orf54(dist=2147)	.	.	splicing	ENSG00000174448	.	.	5.82683257725706E-5	0.02
18	51882140	C	T	18	54355770	n	y	intergenic	STARD6(dist=1197);C18orf54(dist=2147)	.	.	splicing	ENSG00000174448	.	.	4.35742017695309E-5	0.0
18	51882141	T	A	18	54355771	n	y	intergenic	STARD6(dist=1198);C18orf54(dist=2146)	.	.	UTR5	ENSG00000174448	.	.	9.49551173556722E-4	0.014
18	51882141	T	C	18	54355771	n	y	intergenic	STARD6(dist=1198);C18orf54(dist=2146)	.	.	UTR5	ENSG00000174448	.	.	9.16905836748777E-4	0.018
18	51882141	T	G	18	54355771	n	y	intergenic	STARD6(dist=1198);C18orf54(dist=2146)	.	.	UTR5	ENSG00000174448	.	.	9.16905836748777E-4	0.018
18	51882142	A	C	18	54355772	n	y	intergenic	STARD6(dist=1199);C18orf54(dist=2145)	.	.	UTR5	ENSG00000174448	.	.	8.07028132666917E-5	0.004
18	51882142	A	G	18	54355772	n	y	intergenic	STARD6(dist=1199);C18orf54(dist=2145)	.	.	UTR5	ENSG00000174448	.	.	8.07028132666917E-5	0.004
18	51882142	A	T	18	54355772	n	y	intergenic	STARD6(dist=1199);C18orf54(dist=2145)	.	.	UTR5	ENSG00000174448	.	.	8.07028132666917E-5	0.006
18	51882143	T	A	18	54355773	n	y	intergenic	STARD6(dist=1200);C18orf54(dist=2144)	.	.	UTR5	ENSG00000174448	.	.	3.79263055397885E-5	0.016
18	51882143	T	C	18	54355773	n	y	intergenic	STARD6(dist=1200);C18orf54(dist=2144)	.	.	UTR5	ENSG00000174448	.	.	3.79263055397885E-5	0.016
18	51882143	T	G	18	54355773	n	y	intergenic	STARD6(dist=1200);C18orf54(dist=2144)	.	.	UTR5	ENSG00000174448	.	.	3.79263055397885E-5	0.016
18	51882219	A	C	18	54355849	n	y	intergenic	STARD6(dist=1276);C18orf54(dist=2068)	.	.	UTR5	ENSG00000174448	.	.	9.49551173556722E-4	0.01
18	51882219	A	G	18	54355849	n	y	intergenic	STARD6(dist=1276);C18orf54(dist=2068)	.	.	UTR5	ENSG00000174448	.	.	9.49551173556722E-4	0.01
18	51882219	A	T	18	54355849	n	y	intergenic	STARD6(dist=1276);C18orf54(dist=2068)	.	.	UTR5	ENSG00000174448	.	.	0.00140830567855165	0.012
18	51882220	G	A	18	54355850	n	y	intergenic	STARD6(dist=1277);C18orf54(dist=2067)	.	.	UTR5	ENSG00000174448	.	.	3.23670744562471E-4	0.002
18	51882220	G	C	18	54355850	n	y	intergenic	STARD6(dist=1277);C18orf54(dist=2067)	.	.	UTR5	ENSG00000174448	.	.	3.23670744562471E-4	0.002
18	51882220	G	T	18	54355850	n	y	intergenic	STARD6(dist=1277);C18orf54(dist=2067)	.	.	UTR5	ENSG00000174448	.	.	3.23670744562471E-4	0.002
18	51882221	C	A	18	54355851	n	y	intergenic	STARD6(dist=1278);C18orf54(dist=2066)	.	.	splicing	ENSG00000174448	.	.	3.75289494538373E-5	0.002
18	51882221	C	G	18	54355851	n	y	intergenic	STARD6(dist=1278);C18orf54(dist=2066)	.	.	splicing	ENSG00000174448	.	.	3.75289494538373E-5	0.002
18	51882221	C	T	18	54355851	n	y	intergenic	STARD6(dist=1278);C18orf54(dist=2066)	.	.	splicing	ENSG00000174448	.	.	3.75289494538373E-5	0.002
18	51882222	T	A	18	54355852	n	y	intergenic	STARD6(dist=1279);C18orf54(dist=2065)	.	.	splicing	ENSG00000174448	.	.	9.84578393276541E-5	0.052
18	51882222	T	C	18	54355852	n	y	intergenic	STARD6(dist=1279);C18orf54(dist=2065)	.	.	splicing	ENSG00000174448	.	.	9.84578393276541E-5	0.052
18	51882222	T	G	18	54355852	n	y	intergenic	STARD6(dist=1279);C18orf54(dist=2065)	.	.	splicing	ENSG00000174448	.	.	9.84578393276541E-5	0.052
18	51882223	G	A	18	54355853	n	y	intergenic	STARD6(dist=1280);C18orf54(dist=2064)	.	.	intronic	ENSG00000174448	.	.	1.74480241737554E-4	0.002
18	51882223	G	C	18	54355853	n	y	intergenic	STARD6(dist=1280);C18orf54(dist=2064)	.	.	intronic	ENSG00000174448	.	.	1.74480241737554E-4	0.006
18	51882223	G	T	18	54355853	n	y	intergenic	STARD6(dist=1280);C18orf54(dist=2064)	.	.	intronic	ENSG00000174448	.	.	1.74480241737554E-4	0.002
18	51882224	G	A	18	54355854	n	y	intergenic	STARD6(dist=1281);C18orf54(dist=2063)	.	.	intronic	ENSG00000174448	.	.	3.07620641825897E-5	0.0
18	51882224	G	C	18	54355854	n	y	intergenic	STARD6(dist=1281);C18orf54(dist=2063)	.	.	intronic	ENSG00000174448	.	.	3.07620641825897E-5	0.0
18	51882224	G	T	18	54355854	n	y	intergenic	STARD6(dist=1281);C18orf54(dist=2063)	.	.	intronic	ENSG00000174448	.	.	3.07620641825897E-5	0.0
18	51882225	C	A	18	54355855	n	y	intergenic	STARD6(dist=1282);C18orf54(dist=2062)	.	.	intronic	ENSG00000174448	.	.	1.98547883987524E-5	0.0
18	51882225	C	G	18	54355855	n	y	intergenic	STARD6(dist=1282);C18orf54(dist=2062)	.	.	intronic	ENSG00000174448	.	.	1.98547883987524E-5	0.0
18	51882225	C	T	18	54355855	n	y	intergenic	STARD6(dist=1282);C18orf54(dist=2062)	.	.	intronic	ENSG00000174448	.	.	2.14237653763673E-5	0.0
18	51882226	A	C	18	54355856	n	y	intergenic	STARD6(dist=1283);C18orf54(dist=2061)	.	.	intronic	ENSG00000174448	.	.	3.59209916280968E-5	0.006
18	51882226	A	G	18	54355856	n	y	intergenic	STARD6(dist=1283);C18orf54(dist=2061)	.	.	intronic	ENSG00000174448	.	.	3.59209916280968E-5	0.004
18	51882226	A	T	18	54355856	n	y	intergenic	STARD6(dist=1283);C18orf54(dist=2061)	.	.	intronic	ENSG00000174448	.	.	3.59209916280968E-5	0.104
18	51882227	G	A	18	54355857	n	y	intergenic	STARD6(dist=1284);C18orf54(dist=2060)	.	.	intronic	ENSG00000174448	.	.	9.72760553213487E-5	0.002
18	51882227	G	C	18	54355857	n	y	intergenic	STARD6(dist=1284);C18orf54(dist=2060)	.	.	intronic	ENSG00000174448	.	.	4.09828708177445E-5	0.0
18	51882227	G	T	18	54355857	n	y	intergenic	STARD6(dist=1284);C18orf54(dist=2060)	.	.	intronic	ENSG00000174448	.	.	4.09828708177445E-5	0.0
18	51882228	G	A	18	54355858	n	y	intergenic	STARD6(dist=1285);C18orf54(dist=2059)	.	.	intronic	ENSG00000174448	.	.	2.01163773767764E-5	0.0
18	51882228	G	C	18	54355858	n	y	intergenic	STARD6(dist=1285);C18orf54(dist=2059)	.	.	intronic	ENSG00000174448	.	.	1.86431456331734E-5	0.0
18	51882228	G	T	18	54355858	n	y	intergenic	STARD6(dist=1285);C18orf54(dist=2059)	.	.	intronic	ENSG00000174448	.	.	2.01163773767764E-5	0.0
18	51882229	T	A	18	54355859	n	y	intergenic	STARD6(dist=1286);C18orf54(dist=2058)	.	.	intronic	ENSG00000174448	.	.	7.65291509172973E-5	0.01
18	51882229	T	C	18	54355859	n	y	intergenic	STARD6(dist=1286);C18orf54(dist=2058)	.	.	intronic	ENSG00000174448	.	.	4.97864243205666E-5	0.002
18	51882229	T	G	18	54355859	n	y	intergenic	STARD6(dist=1286);C18orf54(dist=2058)	.	.	intronic	ENSG00000174448	.	.	5.37205498882069E-5	0.002
18	51882230	A	C	18	54355860	n	y	intergenic	STARD6(dist=1287);C18orf54(dist=2057)	.	.	intronic	ENSG00000174448	.	.	6.38118228050303E-4	0.006
18	51882230	A	G	18	54355860	n	y	intergenic	STARD6(dist=1287);C18orf54(dist=2057)	.	.	intronic	ENSG00000174448	.	.	6.38118228050303E-4	0.006
18	51882230	A	T	18	54355860	n	y	intergenic	STARD6(dist=1287);C18orf54(dist=2057)	.	.	intronic	ENSG00000174448	.	.	6.38118228050303E-4	0.006
18	51882231	A	C	18	54355861	n	y	intergenic	STARD6(dist=1288);C18orf54(dist=2056)	.	.	intronic	ENSG00000174448	.	.	4.11713759611921E-5	0.0
18	51882231	A	G	18	54355861	n	y	intergenic	STARD6(dist=1288);C18orf54(dist=2056)	.	.	intronic	ENSG00000174448	.	.	4.11713759611921E-5	0.0
18	51882231	A	T	18	54355861	n	y	intergenic	STARD6(dist=1288);C18orf54(dist=2056)	.	.	intronic	ENSG00000174448	.	.	4.11713759611921E-5	0.0
18	51882232	G	A	18	54355862	n	y	intergenic	STARD6(dist=1289);C18orf54(dist=2055)	.	.	intronic	ENSG00000174448	.	.	1.71811775086873E-5	0.002
18	51882232	G	C	18	54355862	n	y	intergenic	STARD6(dist=1289);C18orf54(dist=2055)	.	.	intronic	ENSG00000174448	.	.	1.71811775086873E-5	0.012
18	51882232	G	T	18	54355862	n	y	intergenic	STARD6(dist=1289);C18orf54(dist=2055)	.	.	intronic	ENSG00000174448	.	.	1.71811775086873E-5	0.022
18	51882723	T	A	18	54356353	n	y	intergenic	STARD6(dist=1780);C18orf54(dist=1564)	.	.	intronic	ENSG00000174448	.	.	1.06444635118673E-4	0.0
18	51882723	T	C	18	54356353	n	y	intergenic	STARD6(dist=1780);C18orf54(dist=1564)	.	.	intronic	ENSG00000174448	.	.	3.96653435898131E-5	0.0
18	51882723	T	G	18	54356353	n	y	intergenic	STARD6(dist=1780);C18orf54(dist=1564)	.	.	intronic	ENSG00000174448	.	.	3.96653435898131E-5	0.0
18	51882724	T	A	18	54356354	n	y	intergenic	STARD6(dist=1781);C18orf54(dist=1563)	.	.	intronic	ENSG00000174448	.	.	6.56895269467554E-4	0.03
18	51882724	T	C	18	54356354	n	y	intergenic	STARD6(dist=1781);C18orf54(dist=1563)	.	.	intronic	ENSG00000174448	.	.	5.06953303190684E-4	0.032
18	51882724	T	G	18	54356354	n	y	intergenic	STARD6(dist=1781);C18orf54(dist=1563)	.	.	intronic	ENSG00000174448	.	.	5.06953303190684E-4	0.032
18	51882725	C	A	18	54356355	n	y	intergenic	STARD6(dist=1782);C18orf54(dist=1562)	.	.	intronic	ENSG00000174448	.	.	8.19822057903476E-4	0.006
18	51882725	C	G	18	54356355	n	y	intergenic	STARD6(dist=1782);C18orf54(dist=1562)	.	.	intronic	ENSG00000174448	.	.	4.54864143880111E-4	0.0
18	51882725	C	T	18	54356355	n	y	intergenic	STARD6(dist=1782);C18orf54(dist=1562)	.	.	intronic	ENSG00000174448	.	.	8.19822057903476E-4	0.002
18	51882726	T	A	18	54356356	n	y	intergenic	STARD6(dist=1783);C18orf54(dist=1561)	.	.	intronic	ENSG00000174448	.	.	0.00130773304317029	0.002
18	51882726	T	C	18	54356356	n	y	intergenic	STARD6(dist=1783);C18orf54(dist=1561)	.	.	intronic	ENSG00000174448	.	.	9.71543223222496E-4	0.006
18	51882726	T	G	18	54356356	n	y	intergenic	STARD6(dist=1783);C18orf54(dist=1561)	.	.	intronic	ENSG00000174448	.	.	9.71543223222496E-4	0.004
18	51882727	T	A	18	54356357	n	y	intergenic	STARD6(dist=1784);C18orf54(dist=1560)	.	.	intronic	ENSG00000174448	.	.	0.00689466562018641	0.022
18	51882727	T	C	18	54356357	n	y	intergenic	STARD6(dist=1784);C18orf54(dist=1560)	.	.	intronic	ENSG00000174448	.	.	0.0046695164792184	0.02
18	51882727	T	G	18	54356357	n	y	intergenic	STARD6(dist=1784);C18orf54(dist=1560)	.	.	intronic	ENSG00000174448	.	.	0.0046695164792184	0.024
18	51882728	T	A	18	54356358	n	y	intergenic	STARD6(dist=1785);C18orf54(dist=1559)	.	.	intronic	ENSG00000174448	.	.	0.00689466562018641	0.02
18	51882728	T	C	18	54356358	n	y	intergenic	STARD6(dist=1785);C18orf54(dist=1559)	.	.	intronic	ENSG00000174448	.	.	0.0046695164792184	0.02
18	51882728	T	G	18	54356358	n	y	intergenic	STARD6(dist=1785);C18orf54(dist=1559)	.	.	intronic	ENSG00000174448	.	.	0.0046695164792184	0.02
18	51882729	A	C	18	54356359	n	y	intergenic	STARD6(dist=1786);C18orf54(dist=1558)	.	.	splicing	ENSG00000174448	.	.	0.0260857203431952	0.09
18	51882729	A	G	18	54356359	n	y	intergenic	STARD6(dist=1786);C18orf54(dist=1558)	.	.	splicing	ENSG00000174448	.	.	0.0260857203431952	0.086
18	51882729	A	T	18	54356359	n	y	intergenic	STARD6(dist=1786);C18orf54(dist=1558)	.	.	splicing	ENSG00000174448	.	.	0.0311701174772568	0.156
18	51882730	C	A	18	54356360	n	y	intergenic	STARD6(dist=1787);C18orf54(dist=1557)	.	.	splicing	ENSG00000174448	.	.	0.00188465046214364	0.05
18	51882730	C	G	18	54356360	n	y	intergenic	STARD6(dist=1787);C18orf54(dist=1557)	.	.	splicing	ENSG00000174448	.	.	0.00188465046214364	0.052
18	51882730	C	T	18	54356360	n	y	intergenic	STARD6(dist=1787);C18orf54(dist=1557)	.	.	splicing	ENSG00000174448	.	.	0.00188465046214364	0.058
18	51882731	C	A	18	54356361	n	y	intergenic	STARD6(dist=1788);C18orf54(dist=1556)	.	.	UTR5	ENSG00000174448	.	.	3.21211619968639E-5	0.0
18	51882731	C	G	18	54356361	n	y	intergenic	STARD6(dist=1788);C18orf54(dist=1556)	.	.	UTR5	ENSG00000174448	.	.	3.21211619968639E-5	0.0
18	51882731	C	T	18	54356361	n	y	intergenic	STARD6(dist=1788);C18orf54(dist=1556)	.	.	UTR5	ENSG00000174448	.	.	3.21211619968639E-5	0.0
18	51882732	T	A	18	54356362	n	y	intergenic	STARD6(dist=1789);C18orf54(dist=1555)	.	.	UTR5	ENSG00000174448	.	.	0.0046695164792184	0.02
18	51882732	T	C	18	54356362	n	y	intergenic	STARD6(dist=1789);C18orf54(dist=1555)	.	.	UTR5	ENSG00000174448	.	.	0.00474599785859389	0.024
18	51882732	T	G	18	54356362	n	y	intergenic	STARD6(dist=1789);C18orf54(dist=1555)	.	.	UTR5	ENSG00000174448	.	.	0.00474599785859389	0.024
18	51882733	T	A	18	54356363	n	y	intergenic	STARD6(dist=1790);C18orf54(dist=1554)	.	.	UTR5	ENSG00000174448	.	.	0.00474599785859389	0.026
18	51882733	T	C	18	54356363	n	y	intergenic	STARD6(dist=1790);C18orf54(dist=1554)	.	.	UTR5	ENSG00000174448	.	.	0.00327904169213495	0.022
18	51882733	T	G	18	54356363	n	y	intergenic	STARD6(dist=1790);C18orf54(dist=1554)	.	.	UTR5	ENSG00000174448	.	.	0.00327904169213495	0.022
18	51882813	A	C	18	54356443	n	y	intergenic	STARD6(dist=1870);C18orf54(dist=1474)	.	.	UTR5	ENSG00000174448	.	.	0.00106685483749524	0.018
18	51882813	A	G	18	54356443	n	y	intergenic	STARD6(dist=1870);C18orf54(dist=1474)	.	.	UTR5	ENSG00000174448	.	.	0.00106685483749524	0.018
18	51882813	A	T	18	54356443	n	y	intergenic	STARD6(dist=1870);C18orf54(dist=1474)	.	.	UTR5	ENSG00000174448	.	.	5.95015600959388E-4	0.018
18	51882814	C	A	18	54356444	n	y	intergenic	STARD6(dist=1871);C18orf54(dist=1473)	.	.	UTR5	ENSG00000174448	.	.	1.04661109736481E-4	0.1
18	51882814	C	G	18	54356444	n	y	intergenic	STARD6(dist=1871);C18orf54(dist=1473)	.	.	UTR5	ENSG00000174448	.	.	1.04661109736481E-4	0.092
18	51882814	C	T	18	54356444	n	y	intergenic	STARD6(dist=1871);C18orf54(dist=1473)	.	.	UTR5	ENSG00000174448	.	.	1.04661109736481E-4	0.124
18	51882815	C	A	18	54356445	n	y	intergenic	STARD6(dist=1872);C18orf54(dist=1472)	.	.	splicing	ENSG00000174448	.	.	0.00388693849935709	0.056
18	51882815	C	G	18	54356445	n	y	intergenic	STARD6(dist=1872);C18orf54(dist=1472)	.	.	splicing	ENSG00000174448	.	.	0.00388693849935709	0.056
18	51882815	C	T	18	54356445	n	y	intergenic	STARD6(dist=1872);C18orf54(dist=1472)	.	.	splicing	ENSG00000174448	.	.	0.00516547664661534	0.056
18	51882816	T	A	18	54356446	n	y	intergenic	STARD6(dist=1873);C18orf54(dist=1471)	.	.	splicing	ENSG00000174448	.	.	0.00189846317597268	0.018
18	51882816	T	C	18	54356446	n	y	intergenic	STARD6(dist=1873);C18orf54(dist=1471)	.	.	splicing	ENSG00000174448	.	.	0.00110339085949695	0.018
18	51882816	T	G	18	54356446	n	y	intergenic	STARD6(dist=1873);C18orf54(dist=1471)	.	.	splicing	ENSG00000174448	.	.	0.00110339085949695	0.018
18	51882817	G	A	18	54356447	n	y	intergenic	STARD6(dist=1874);C18orf54(dist=1470)	.	.	intronic	ENSG00000174448	.	.	0.00501976094694716	0.082
18	51882817	G	C	18	54356447	n	y	intergenic	STARD6(dist=1874);C18orf54(dist=1470)	.	.	intronic	ENSG00000174448	.	.	0.00501976094694716	0.07
18	51882817	G	T	18	54356447	n	y	intergenic	STARD6(dist=1874);C18orf54(dist=1470)	.	.	intronic	ENSG00000174448	.	.	0.00501976094694716	0.07
18	51882818	T	A	18	54356448	n	y	intergenic	STARD6(dist=1875);C18orf54(dist=1469)	.	.	intronic	ENSG00000174448	.	.	2.68219155180855E-5	0.0
18	51882818	T	C	18	54356448	n	y	intergenic	STARD6(dist=1875);C18orf54(dist=1469)	.	.	intronic	ENSG00000174448	.	.	2.55705114011452E-5	0.0
18	51882818	T	G	18	54356448	n	y	intergenic	STARD6(dist=1875);C18orf54(dist=1469)	.	.	intronic	ENSG00000174448	.	.	2.55705114011452E-5	0.0
18	51882819	G	A	18	54356449	n	y	intergenic	STARD6(dist=1876);C18orf54(dist=1468)	.	.	intronic	ENSG00000174448	.	.	2.45892698382496E-5	0.004
18	51882819	G	C	18	54356449	n	y	intergenic	STARD6(dist=1876);C18orf54(dist=1468)	.	.	intronic	ENSG00000174448	.	.	2.45892698382496E-5	0.028
18	51882819	G	T	18	54356449	n	y	intergenic	STARD6(dist=1876);C18orf54(dist=1468)	.	.	intronic	ENSG00000174448	.	.	2.45892698382496E-5	0.002
18	51882820	A	C	18	54356450	n	y	intergenic	STARD6(dist=1877);C18orf54(dist=1467)	.	.	intronic	ENSG00000174448	.	.	1.82309039396057E-5	0.018
18	51882820	A	G	18	54356450	n	y	intergenic	STARD6(dist=1877);C18orf54(dist=1467)	.	.	intronic	ENSG00000174448	.	.	1.82309039396057E-5	0.018
18	51882820	A	T	18	54356450	n	y	intergenic	STARD6(dist=1877);C18orf54(dist=1467)	.	.	intronic	ENSG00000174448	.	.	1.82309039396057E-5	0.018
18	51882821	G	A	18	54356451	n	y	intergenic	STARD6(dist=1878);C18orf54(dist=1466)	.	.	intronic	ENSG00000174448	.	.	1.99153316237132E-5	0.002
18	51882821	G	C	18	54356451	n	y	intergenic	STARD6(dist=1878);C18orf54(dist=1466)	.	.	intronic	ENSG00000174448	.	.	1.89861551796331E-5	0.004
18	51882821	G	T	18	54356451	n	y	intergenic	STARD6(dist=1878);C18orf54(dist=1466)	.	.	intronic	ENSG00000174448	.	.	1.99153316237132E-5	0.002
18	51882822	G	A	18	54356452	n	y	intergenic	STARD6(dist=1879);C18orf54(dist=1465)	.	.	intronic	ENSG00000174448	.	.	7.21178760514593E-5	0.092
18	51882822	G	C	18	54356452	n	y	intergenic	STARD6(dist=1879);C18orf54(dist=1465)	.	.	intronic	ENSG00000174448	.	.	7.21178760514593E-5	0.09
18	51882822	G	T	18	54356452	n	y	intergenic	STARD6(dist=1879);C18orf54(dist=1465)	.	.	intronic	ENSG00000174448	.	.	7.21178760514593E-5	0.092
18	51882823	A	C	18	54356453	n	y	intergenic	STARD6(dist=1880);C18orf54(dist=1464)	.	.	intronic	ENSG00000174448	.	.	2.12096536907536E-5	0.002
18	51882823	A	G	18	54356453	n	y	intergenic	STARD6(dist=1880);C18orf54(dist=1464)	.	.	intronic	ENSG00000174448	.	.	2.12096536907536E-5	0.002
18	51882823	A	T	18	54356453	n	y	intergenic	STARD6(dist=1880);C18orf54(dist=1464)	.	.	intronic	ENSG00000174448	.	.	2.12096536907536E-5	0.002
18	51882824	A	C	18	54356454	n	y	intergenic	STARD6(dist=1881);C18orf54(dist=1463)	.	.	intronic	ENSG00000174448	.	.	7.68366773012856E-5	0.078
18	51882824	A	G	18	54356454	n	y	intergenic	STARD6(dist=1881);C18orf54(dist=1463)	.	.	intronic	ENSG00000174448	.	.	7.68366773012856E-5	0.076
18	51882824	A	T	18	54356454	n	y	intergenic	STARD6(dist=1881);C18orf54(dist=1463)	.	.	intronic	ENSG00000174448	.	.	7.68366773012856E-5	0.132
18	51882825	A	C	18	54356455	n	y	intergenic	STARD6(dist=1882);C18orf54(dist=1462)	.	.	intronic	ENSG00000174448	.	.	2.41036740142694E-4	0.002
18	51882825	A	G	18	54356455	n	y	intergenic	STARD6(dist=1882);C18orf54(dist=1462)	.	.	intronic	ENSG00000174448	.	.	2.41036740142694E-4	0.002
18	51882825	A	T	18	54356455	n	y	intergenic	STARD6(dist=1882);C18orf54(dist=1462)	.	.	intronic	ENSG00000174448	.	.	2.41036740142694E-4	0.002
18	51882826	C	A	18	54356456	n	y	intergenic	STARD6(dist=1883);C18orf54(dist=1461)	.	.	intronic	ENSG00000174448	.	.	1.39502748842236E-5	0.002
18	51882826	C	G	18	54356456	n	y	intergenic	STARD6(dist=1883);C18orf54(dist=1461)	.	.	intronic	ENSG00000174448	.	.	1.39502748842236E-5	0.0
18	51882826	C	T	18	54356456	n	y	intergenic	STARD6(dist=1883);C18orf54(dist=1461)	.	.	intronic	ENSG00000174448	.	.	1.39502748842236E-5	0.002
18	51883417	T	A	18	54357047	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	4.50687661477519E-4	0.026
18	51883417	T	C	18	54357047	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.17366974959638E-4	0.026
18	51883417	T	G	18	54357047	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.17366974959638E-4	0.026
18	51883418	G	A	18	54357048	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.0086839819578E-5	0.002
18	51883418	G	C	18	54357048	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.0086839819578E-5	0.002
18	51883418	G	T	18	54357048	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.0086839819578E-5	0.002
18	51883419	T	A	18	54357049	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	5.98477515052973E-5	0.002
18	51883419	T	C	18	54357049	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	3.29276528558917E-5	0.004
18	51883419	T	G	18	54357049	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	3.29276528558917E-5	0.002
18	51883420	A	C	18	54357050	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	6.4243997895107E-5	0.012
18	51883420	A	G	18	54357050	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	6.4243997895107E-5	0.012
18	51883420	A	T	18	54357050	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	4.8042999492716E-5	0.002
18	51883421	T	A	18	54357051	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.05210436564933E-5	0.002
18	51883421	T	C	18	54357051	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.05210436564933E-5	0.002
18	51883421	T	G	18	54357051	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.05210436564933E-5	0.002
18	51883422	T	A	18	54357052	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	0.00149476155890927	0.008
18	51883422	T	C	18	54357052	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	0.00149476155890927	0.012
18	51883422	T	G	18	54357052	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	0.00149476155890927	0.01
18	51883423	A	C	18	54357053	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	2.3994564522384E-5	0.042
18	51883423	A	G	18	54357053	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	2.3994564522384E-5	0.042
18	51883423	A	T	18	54357053	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	2.3994564522384E-5	0.042
18	51883424	C	A	18	54357054	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	0.00193368460629301	0.02
18	51883424	C	G	18	54357054	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	0.00193368460629301	0.02
18	51883424	C	T	18	54357054	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	0.00193368460629301	0.02
18	51883425	A	C	18	54357055	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	3.41479918444897E-5	0.058
18	51883425	A	G	18	54357055	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	1.48864380468465E-4	0.03
18	51883425	A	T	18	54357055	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	2.59454709776266E-5	0.126
18	51883426	T	A	18	54357056	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	0.00154592920084238	0.008
18	51883426	T	C	18	54357056	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	8.33829447660801E-4	0.008
18	51883426	T	G	18	54357056	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	8.33829447660801E-4	0.008
18	51883427	G	A	18	54357057	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	2.81602517199445E-5	0.022
18	51883427	G	C	18	54357057	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	2.81602517199445E-5	0.018
18	51883427	G	T	18	54357057	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	2.81602517199445E-5	0.018
18	51883536	C	A	18	54357166	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	4.29460340492825E-5	0.108
18	51883536	C	G	18	54357166	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	4.29460340492825E-5	0.096
18	51883536	C	T	18	54357166	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	4.29460340492825E-5	0.236
18	51883537	T	A	18	54357167	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	1.48367148474546E-5	0.004
18	51883537	T	C	18	54357167	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	1.37501361942679E-5	0.002
18	51883537	T	G	18	54357167	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	1.37501361942679E-5	0.002
18	51883538	C	A	18	54357168	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	6.09337574150394E-6	0.0
18	51883538	C	G	18	54357168	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	6.09337574150394E-6	0.0
18	51883538	C	T	18	54357168	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	6.09337574150394E-6	0.004
18	51883539	T	A	18	54357169	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.0288925866825E-5	0.002
18	51883539	T	C	18	54357169	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.0288925866825E-5	0.002
18	51883539	T	G	18	54357169	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.0288925866825E-5	0.002
18	51883540	T	A	18	54357170	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	8.42630019181888E-4	0.03
18	51883540	T	C	18	54357170	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	8.42630019181888E-4	0.03
18	51883540	T	G	18	54357170	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	8.42630019181888E-4	0.03
18	51883541	T	A	18	54357171	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.99153316237132E-5	0.0
18	51883541	T	C	18	54357171	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.99153316237132E-5	0.0
18	51883541	T	G	18	54357171	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.99153316237132E-5	0.0
18	51883542	T	A	18	54357172	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.47800409892608E-4	0.034
18	51883542	T	C	18	54357172	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.47800409892608E-4	0.036
18	51883542	T	G	18	54357172	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.47800409892608E-4	0.036
18	51883543	T	A	18	54357173	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.47800409892608E-4	0.036
18	51883543	T	C	18	54357173	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.47800409892608E-4	0.036
18	51883543	T	G	18	54357173	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.47800409892608E-4	0.036
18	51883544	T	A	18	54357174	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	8.90177193295887E-6	0.006
18	51883544	T	C	18	54357174	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	8.90177193295887E-6	0.002
18	51883544	T	G	18	54357174	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	8.90177193295887E-6	0.002
18	51883545	T	A	18	54357175	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	8.52933643144052E-5	0.014
18	51883545	T	C	18	54357175	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	5.40839623268995E-5	0.02
18	51883545	T	G	18	54357175	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	3.15849948155271E-5	0.02
18	51883546	G	A	18	54357176	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.29569385254148E-5	0.0
18	51883546	G	C	18	54357176	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.29569385254148E-5	0.0
18	51883546	G	T	18	54357176	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.29569385254148E-5	0.0
18	51883547	A	C	18	54357177	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	3.07620641825897E-5	0.022
18	51883547	A	G	18	54357177	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	3.07620641825897E-5	0.01
18	51883547	A	T	18	54357177	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	3.07620641825897E-5	0.0
18	51883548	T	A	18	54357178	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.67041016160015E-5	0.04
18	51883548	T	C	18	54357178	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.90616542938724E-5	0.064
18	51883548	T	G	18	54357178	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.90616542938724E-5	0.064
18	51883549	A	C	18	54357179	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.58927937202005E-5	0.002
18	51883549	A	G	18	54357179	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.58927937202005E-5	0.002
18	51883549	A	T	18	54357179	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.58927937202005E-5	0.002
18	51884154	A	C	18	54357784	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.54636443065537E-4	0.006
18	51884154	A	G	18	54357784	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.54636443065537E-4	0.006
18	51884154	A	T	18	54357784	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.95049156646856E-4	0.006
18	51884155	A	C	18	54357785	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	0.00159463682682201	0.036
18	51884155	A	G	18	54357785	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	0.00159463682682201	0.028
18	51884155	A	T	18	54357785	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	0.00125271302072661	0.018
18	51884156	C	A	18	54357786	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.09562936375766E-4	0.016
18	51884156	C	G	18	54357786	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.09562936375766E-4	0.004
18	51884156	C	T	18	54357786	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.09562936375766E-4	0.002
18	51884157	A	C	18	54357787	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.94615721382208E-5	0.006
18	51884157	A	G	18	54357787	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	2.94615721382208E-5	0.006
18	51884157	A	T	18	54357787	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	3.25165081315677E-5	0.004
18	51884158	G	A	18	54357788	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.43328326150747E-4	0.006
18	51884158	G	C	18	54357788	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	8.18429645671592E-5	0.002
18	51884158	G	T	18	54357788	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.41795582985821E-4	0.004
18	51884159	C	A	18	54357789	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.00390497128202E-4	0.002
18	51884159	C	G	18	54357789	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.86879639678869E-4	0.004
18	51884159	C	T	18	54357789	n	y	upstream	C18orf54	.	.	intronic	ENSG00000174448	.	.	1.79194478619654E-4	0.002
18	51884160	A	C	18	54357790	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.64870749430405E-4	0.006
18	51884160	A	G	18	54357790	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.20467738660625E-4	0.004
18	51884160	A	T	18	54357790	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.40583297660189E-4	0.014
18	51884161	C	A	18	54357791	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.52797291082986E-4	0.004
18	51884161	C	G	18	54357791	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.30934304505168E-4	0.0
18	51884161	C	T	18	54357791	n	y	upstream	C18orf54	.	.	splicing	ENSG00000174448	.	.	1.52797291082986E-4	0.006
18	51884162	C	A	18	54357792	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	1.04496257018506E-4	0.002
18	51884162	C	G	18	54357792	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	1.04496257018506E-4	0.004
18	51884162	C	T	18	54357792	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	9.51251131484881E-5	0.0
18	51884163	T	A	18	54357793	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	2.89903870182886E-4	0.072
18	51884163	T	C	18	54357793	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	2.89903870182886E-4	0.022
18	51884163	T	G	18	54357793	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	2.89903870182886E-4	0.022
18	51884164	T	A	18	54357794	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	7.84364218807806E-5	0.094
18	51884164	T	C	18	54357794	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	7.84364218807806E-5	0.1
18	51884164	T	G	18	54357794	n	y	upstream	C18orf54	.	.	UTR5	ENSG00000174448	.	.	7.84364218807806E-5	0.098
18	51884342	C	A	18	54357972	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00617727623231551	0.026
18	51884342	C	G	18	54357972	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00617727623231551	0.02
18	51884342	C	T	18	54357972	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00617727623231551	0.03
18	51884343	G	A	18	54357973	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.09562936375766E-4	0.014
18	51884343	G	C	18	54357973	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.09562936375766E-4	0.004
18	51884343	G	T	18	54357973	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.09562936375766E-4	0.006
18	51884344	A	C	18	54357974	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	7.5480235718294E-5	0.004
18	51884344	A	G	18	54357974	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	7.5480235718294E-5	0.004
18	51884344	A	T	18	54357974	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	7.5480235718294E-5	0.004
18	51884345	G	A	18	54357975	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	4.45170072801036E-5	0.016
18	51884345	G	C	18	54357975	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	2.3994564522384E-5	0.016
18	51884345	G	T	18	54357975	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	4.45170072801036E-5	0.016
18	51884346	T	A	18	54357976	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	4.90028566392549E-5	0.002
18	51884346	T	C	18	54357976	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	4.90028566392549E-5	0.002
18	51884346	T	G	18	54357976	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	4.90028566392549E-5	0.002
18	51884347	G	A	18	54357977	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.82035599739421E-5	0.002
18	51884347	G	C	18	54357977	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.83797748812033E-5	0.002
18	51884347	G	T	18	54357977	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.82035599739421E-5	0.002
18	51884348	A	C	18	54357978	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.4076558401562E-4	0.012
18	51884348	A	G	18	54357978	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.4076558401562E-4	0.012
18	51884348	A	T	18	54357978	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.9188670368541E-4	0.012
18	51884349	G	A	18	54357979	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.39529611572298E-5	0.006
18	51884349	G	C	18	54357979	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.39529611572298E-5	0.006
18	51884349	G	T	18	54357979	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.39529611572298E-5	0.006
18	51884350	C	A	18	54357980	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	5.40839623268995E-5	0.0
18	51884350	C	G	18	54357980	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	5.40839623268995E-5	0.0
18	51884350	C	T	18	54357980	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	5.40839623268995E-5	0.0
18	51884351	C	A	18	54357981	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.35428655471156E-5	0.002
18	51884351	C	G	18	54357981	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.35428655471156E-5	0.002
18	51884351	C	T	18	54357981	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.35428655471156E-5	0.0
18	51884352	G	A	18	54357982	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00318320130771389	0.044
18	51884352	G	C	18	54357982	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00321655762184507	0.038
18	51884352	G	T	18	54357982	y	y	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00321655762184507	0.046
18	51884443	A	C	18	54358073	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.18429645671592E-5	0.0
18	51884443	A	G	18	54358073	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.18429645671592E-5	0.0
18	51884443	A	T	18	54358073	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.90792379341904E-5	0.0
18	51884444	G	A	18	54358074	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.7357792130175E-4	0.0
18	51884444	G	C	18	54358074	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.02337758398172E-4	0.0
18	51884444	G	T	18	54358074	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.02337758398172E-4	0.0
18	51884445	T	A	18	54358075	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.1766481184988E-4	0.002
18	51884445	T	C	18	54358075	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.97082775257514E-4	0.002
18	51884445	T	G	18	54358075	y	n	UTR5	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.97082775257514E-4	0.01
18	51884446	G	A	18	54358076	y	n	splicing	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.09881628405834E-4	0.026
18	51884446	G	C	18	54358076	y	n	splicing	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.14979734638833E-4	0.052
18	51884446	G	T	18	54358076	y	n	splicing	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.09881628405834E-4	0.026
18	51884447	T	A	18	54358077	y	n	splicing	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.20893336865757E-4	0.0
18	51884447	T	C	18	54358077	y	n	splicing	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.22978912786323E-4	0.0
18	51884447	T	G	18	54358077	y	n	splicing	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.22978912786323E-4	0.0
18	51884448	G	A	18	54358078	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0106228908163107	0.022
18	51884448	G	C	18	54358078	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00951067369662903	0.018
18	51884448	G	T	18	54358078	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00951067369662903	0.014
18	51884449	C	A	18	54358079	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.17780405200051E-4	0.004
18	51884449	C	G	18	54358079	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.01222157793641E-4	0.004
18	51884449	C	T	18	54358079	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.22539223435578E-4	0.006
18	51884450	G	A	18	54358080	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.51591174045998E-4	0.076
18	51884450	G	C	18	54358080	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.51591174045998E-4	0.01
18	51884450	G	T	18	54358080	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.51591174045998E-4	0.01
18	51884451	G	A	18	54358081	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.78864525412067E-5	0.0
18	51884451	G	C	18	54358081	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.78864525412067E-5	0.0
18	51884451	G	T	18	54358081	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.78864525412067E-5	0.0
18	51884452	T	A	18	54358082	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.63055045914417E-5	0.0
18	51884452	T	C	18	54358082	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.63055045914417E-5	0.002
18	51884452	T	G	18	54358082	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.63055045914417E-5	0.002
18	51884453	T	A	18	54358083	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.63055045914417E-5	0.004
18	51884453	T	C	18	54358083	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.63055045914417E-5	0.002
18	51884453	T	G	18	54358083	y	n	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.63055045914417E-5	0.0
18	51885132	T	A	18	54358762	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.646
18	51885132	T	C	18	54358762	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.37320857082013	0.612
18	51885132	T	G	18	54358762	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.399311545579026	0.626
18	51885133	T	A	18	54358763	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.66
18	51885133	T	C	18	54358763	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.684
18	51885133	T	G	18	54358763	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.68
18	51885134	T	A	18	54358764	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.66
18	51885134	T	C	18	54358764	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.682
18	51885134	T	G	18	54358764	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.682
18	51885135	G	A	18	54358765	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.02911083783256E-5	0.018
18	51885135	G	C	18	54358765	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.11914168694075E-4	0.036
18	51885135	G	T	18	54358765	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.11914168694075E-4	0.032
18	51885136	A	C	18	54358766	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.4942720485679E-5	0.04
18	51885136	A	G	18	54358766	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.4942720485679E-5	0.036
18	51885136	A	T	18	54358766	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.2044644509113E-5	0.076
18	51885137	A	C	18	54358767	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.19308436190512E-4	0.108
18	51885137	A	G	18	54358767	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.19308436190512E-4	0.108
18	51885137	A	T	18	54358767	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.57783960850857E-4	0.122
18	51885138	T	A	18	54358768	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.654
18	51885138	T	C	18	54358768	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.672
18	51885138	T	G	18	54358768	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.438455591420921	0.672
18	51885139	C	A	18	54358769	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.0391136102531048	0.156
18	51885139	C	G	18	54358769	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.0351778352548841	0.144
18	51885139	C	T	18	54358769	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.0456301098052828	0.156
18	51885140	A	C	18	54358770	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.0113856197503114	0.184
18	51885140	A	G	18	54358770	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.0113856197503114	0.164
18	51885140	A	T	18	54358770	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.0113856197503114	0.198
18	51885141	A	C	18	54358771	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.79728974283778E-5	0.104
18	51885141	A	G	18	54358771	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.79728974283778E-5	0.108
18	51885141	A	T	18	54358771	y	n	intronic	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.81549058506908E-5	0.104
18	51885142	A	C	18	54358772	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	8.36560023691778E-5	0.108
18	51885142	A	G	18	54358772	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	8.36560023691778E-5	0.108
18	51885142	A	T	18	54358772	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	9.82583999490021E-5	0.108
18	51885143	G	A	18	54358773	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.863584668308777	0.77
18	51885143	G	C	18	54358773	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.843497590296421	0.752
18	51885143	G	T	18	54358773	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.863584668308777	0.762
18	51885144	T	A	18	54358774	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.40574106618509E-4	0.002
18	51885144	T	C	18	54358774	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.40574106618509E-4	0.01
18	51885144	T	G	18	54358774	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.40574106618509E-4	0.006
18	51885145	T	A	18	54358775	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00731292595632257	0.144
18	51885145	T	C	18	54358775	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00321670619969976	0.1
18	51885145	T	G	18	54358775	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00321670619969976	0.11
18	51885199	T	A	18	54358829	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.85233872139031E-4	0.01
18	51885199	T	C	18	54358829	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.83253076109763E-4	0.018
18	51885199	T	G	18	54358829	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.83253076109763E-4	0.006
18	51885200	T	A	18	54358830	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00267178346707102	0.068
18	51885200	T	C	18	54358830	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00267178346707102	0.028
18	51885200	T	G	18	54358830	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00267178346707102	0.028
18	51885201	T	A	18	54358831	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	5.16682635439002E-5	0.0
18	51885201	T	C	18	54358831	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	5.16682635439002E-5	0.0
18	51885201	T	G	18	54358831	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	5.16682635439002E-5	0.0
18	51885202	C	A	18	54358832	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.69930370103191E-5	0.0
18	51885202	C	G	18	54358832	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.69930370103191E-5	0.0
18	51885202	C	T	18	54358832	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.84893575895825E-5	0.0
18	51885203	T	A	18	54358833	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.63053105659509E-4	0.0
18	51885203	T	C	18	54358833	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.3271890069336E-4	0.0
18	51885203	T	G	18	54358833	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.3271890069336E-4	0.0
18	51885204	T	A	18	54358834	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.30862096815097E-4	0.01
18	51885204	T	C	18	54358834	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.71464925181669E-4	0.01
18	51885204	T	G	18	54358834	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.71464925181669E-4	0.01
18	51885205	T	A	18	54358835	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	8.20576206096585E-5	0.0
18	51885205	T	C	18	54358835	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	5.83207216097928E-5	0.0
18	51885205	T	G	18	54358835	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	5.83207216097928E-5	0.0
18	51885206	T	A	18	54358836	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	7.01315188657279E-5	0.002
18	51885206	T	C	18	54358836	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	6.35428655471156E-5	0.002
18	51885206	T	G	18	54358836	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	6.35428655471156E-5	0.002
18	51885207	G	A	18	54358837	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.54782966277655E-5	0.0
18	51885207	G	C	18	54358837	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.54782966277655E-5	0.0
18	51885207	G	T	18	54358837	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.54782966277655E-5	0.0
18	51885208	G	A	18	54358838	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.90028566392549E-5	0.002
18	51885208	G	C	18	54358838	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.90028566392549E-5	0.004
18	51885208	G	T	18	54358838	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.90028566392549E-5	0.002
18	51885209	A	C	18	54358839	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.15267776820636E-5	0.0
18	51885209	A	G	18	54358839	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.15267776820636E-5	0.0
18	51885209	A	T	18	54358839	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	3.15267776820636E-5	0.0
18	51885210	G	A	18	54358840	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	6.00043844550976E-5	0.016
18	51885210	G	C	18	54358840	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	6.00043844550976E-5	0.016
18	51885210	G	T	18	54358840	y	n	splicing	C18orf54	.	.	UTR5	ENSG00000166845	.	.	6.00043844550976E-5	0.016
18	51885211	A	C	18	54358841	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.17119222840784E-5	0.002
18	51885211	A	G	18	54358841	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.17119222840784E-5	0.002
18	51885211	A	T	18	54358841	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.1193638191297E-4	0.002
18	51885212	T	A	18	54358842	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.19523722086209E-5	0.0
18	51885212	T	C	18	54358842	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.19523722086209E-5	0.0
18	51885212	T	G	18	54358842	y	n	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.19523722086209E-5	0.0
18	51885238	A	C	18	54358868	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	1.72121237104987E-5	0.0
18	51885238	A	G	18	54358868	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	2.80568487740166E-4	0.016
18	51885238	A	T	18	54358868	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	6.99214332052766E-4	0.16
18	51885239	T	A	18	54358869	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.46834628135956E-5	0.122
18	51885239	T	C	18	54358869	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	4.59378141899548E-5	0.002
18	51885239	T	G	18	54358869	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	6.59420315704335E-5	0.006
18	51885240	G	A	18	54358870	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.998047845684682	0.94
18	51885240	G	C	18	54358870	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.99944355027692	0.91
18	51885240	G	T	18	54358870	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.999175396333297	0.89
18	51885241	G	A	18	54358871	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999903269673453	0.746
18	51885241	G	C	18	54358871	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999903269673453	0.744
18	51885241	G	T	18	54358871	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999903269673453	0.744
18	51885242	T	A	18	54358872	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999940351765486	0.762
18	51885242	T	C	18	54358872	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.99839226312552	0.678
18	51885242	T	G	18	54358872	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999940351765486	0.76
18	51885243	A	C	18	54358873	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.91283370652817	0.594
18	51885243	A	G	18	54358873	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00539120762526216	0.074
18	51885243	A	T	18	54358873	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.856744985155972	0.56
18	51885244	A	C	18	54358874	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.244203457199498	0.344
18	51885244	A	G	18	54358874	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.76552183763891	0.554
18	51885244	A	T	18	54358874	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.840400967449907	0.56
18	51885245	G	A	18	54358875	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.995948887982884	0.622
18	51885245	G	C	18	54358875	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.995341856580539	0.692
18	51885245	G	T	18	54358875	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.986248815568494	0.538
18	51885246	A	C	18	54358876	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.88798839291737E-5	0.01
18	51885246	A	G	18	54358876	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.00573349287272E-5	0.002
18	51885246	A	T	18	54358876	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.66624777116274E-5	0.008
18	51885247	T	A	18	54358877	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.41769621509947E-5	0.0
18	51885247	T	C	18	54358877	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.00265667476694E-5	0.0
18	51885247	T	G	18	54358877	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	5.8400459566468E-5	0.004
18	51885248	A	C	18	54358878	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.95815540499835E-5	0.0
18	51885248	A	G	18	54358878	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.18168700964336E-5	0.0
18	51885248	A	T	18	54358878	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.69168927045529E-5	0.0
18	51886885	T	A	18	54360515	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.16637717504231	0.448
18	51886885	T	C	18	54360515	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.69686734081023E-4	0.002
18	51886885	T	G	18	54360515	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.116262352708001	0.444
18	51886886	T	A	18	54360516	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.4586385288073	0.47
18	51886886	T	C	18	54360516	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00226593605458661	0.104
18	51886886	T	G	18	54360516	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.193040430473878	0.444
18	51886887	T	A	18	54360517	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999337270217471	0.974
18	51886887	T	C	18	54360517	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.01610438504336E-4	0.002
18	51886887	T	G	18	54360517	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0809704210470359	0.292
18	51886888	G	A	18	54360518	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.5327179459366E-5	0.002
18	51886888	G	C	18	54360518	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.71795518100238E-5	0.008
18	51886888	G	T	18	54360518	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.15298392593421E-5	0.014
18	51886889	T	A	18	54360519	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0580003643681657	0.228
18	51886889	T	C	18	54360519	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.21280191124783E-5	0.014
18	51886889	T	G	18	54360519	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0247005332774596	0.282
18	51886890	A	C	18	54360520	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.18131744863577E-6	0.012
18	51886890	A	G	18	54360520	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.63468534611676E-5	0.004
18	51886890	A	T	18	54360520	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.63065284904611E-6	0.0
18	51886891	T	A	18	54360521	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.941673104229138	0.622
18	51886891	T	C	18	54360521	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00122498922694867	0.092
18	51886891	T	G	18	54360521	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999970248137278	0.97
18	51886892	T	A	18	54360522	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.425332275874523	0.496
18	51886892	T	C	18	54360522	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00540743144319389	0.08
18	51886892	T	G	18	54360522	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.365029402453304	0.47
18	51886893	A	C	18	54360523	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.62507683493418E-5	0.0
18	51886893	A	G	18	54360523	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	5.20133754842101E-5	0.0
18	51886893	A	T	18	54360523	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.57227461111108E-5	0.0
18	51886894	C	A	18	54360524	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.926580754997943	0.574
18	51886894	C	G	18	54360524	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999851059837701	0.962
18	51886894	C	T	18	54360524	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00125163172697154	0.082
18	51886895	A	C	18	54360525	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999814500365738	0.734
18	51886895	A	G	18	54360525	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999814500365738	0.734
18	51886895	A	T	18	54360525	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999807633235587	0.724
18	51886896	G	A	18	54360526	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999969357331099	0.774
18	51886896	G	C	18	54360526	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999975788563665	0.748
18	51886896	G	T	18	54360526	y	y	splicing	C18orf54	.	.	splicing	ENSG00000166845	.	.	0.999969357331099	0.75
18	51886897	T	A	18	54360527	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	7.65853710857762E-5	0.0
18	51886897	T	C	18	54360527	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	8.93313494890978E-5	0.0
18	51886897	T	G	18	54360527	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	9.76910760615791E-4	0.154
18	51886898	T	A	18	54360528	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00578683134344809	0.04
18	51886898	T	C	18	54360528	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.00106570161270187	0.02
18	51886898	T	G	18	54360528	y	y	UTR5	C18orf54	.	.	UTR5	ENSG00000166845	.	.	0.0024239539441602	0.06
18	51887223	A	C	18	54360853	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon1:c.A281C:p.N94T;C18orf54:NM_001288980:exon3:c.A281C:p.N94T;C18orf54:NM_173529:exon2:c.A281C:p.N94T;C18orf54:NM_001288981:exon3:c.A281C:p.N94T;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.A281C:p.N94T;ENSG00000166845:ENST00000300091:exon2:c.A281C:p.N94T;	1.496954771768E-5	0.002
18	51887223	A	G	18	54360853	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon1:c.A281G:p.N94S;C18orf54:NM_001288980:exon3:c.A281G:p.N94S;C18orf54:NM_173529:exon2:c.A281G:p.N94S;C18orf54:NM_001288981:exon3:c.A281G:p.N94S;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.A281G:p.N94S;ENSG00000166845:ENST00000300091:exon2:c.A281G:p.N94S;	0.00135829178484977	0.058
18	51887223	A	T	18	54360853	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon1:c.A281T:p.N94I;C18orf54:NM_001288980:exon3:c.A281T:p.N94I;C18orf54:NM_173529:exon2:c.A281T:p.N94I;C18orf54:NM_001288981:exon3:c.A281T:p.N94I;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.A281T:p.N94I;ENSG00000166845:ENST00000300091:exon2:c.A281T:p.N94I;	0.0612199975104167	0.296
18	51887224	T	A	18	54360854	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon1:c.T282A:p.N94K;C18orf54:NM_001288980:exon3:c.T282A:p.N94K;C18orf54:NM_173529:exon2:c.T282A:p.N94K;C18orf54:NM_001288981:exon3:c.T282A:p.N94K;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.T282A:p.N94K;ENSG00000166845:ENST00000300091:exon2:c.T282A:p.N94K;	8.38981313963393E-4	0.208
18	51887224	T	C	18	54360854	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon1:c.T282C:p.N94N;C18orf54:NM_001288980:exon3:c.T282C:p.N94N;C18orf54:NM_173529:exon2:c.T282C:p.N94N;C18orf54:NM_001288981:exon3:c.T282C:p.N94N;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.T282C:p.N94N;ENSG00000166845:ENST00000300091:exon2:c.T282C:p.N94N;	7.26716081671035E-5	0.016
18	51887224	T	G	18	54360854	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon1:c.T282G:p.N94K;C18orf54:NM_001288980:exon3:c.T282G:p.N94K;C18orf54:NM_173529:exon2:c.T282G:p.N94K;C18orf54:NM_001288981:exon3:c.T282G:p.N94K;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.T282G:p.N94K;ENSG00000166845:ENST00000300091:exon2:c.T282G:p.N94K;	9.56157555240398E-5	0.048
18	51887225	G	A	18	54360855	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon1:c.G283A:p.A95T;C18orf54:NM_001288980:exon3:c.G283A:p.A95T;C18orf54:NM_173529:exon2:c.G283A:p.A95T;C18orf54:NM_001288981:exon3:c.G283A:p.A95T;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.G283A:p.A95T;ENSG00000166845:ENST00000300091:exon2:c.G283A:p.A95T;	0.999995719099924	0.998
18	51887225	G	C	18	54360855	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon1:c.G283C:p.A95P;C18orf54:NM_001288980:exon3:c.G283C:p.A95P;C18orf54:NM_173529:exon2:c.G283C:p.A95P;C18orf54:NM_001288981:exon3:c.G283C:p.A95P;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.G283C:p.A95P;ENSG00000166845:ENST00000300091:exon2:c.G283C:p.A95P;	0.999990917401856	0.996
18	51887225	G	T	18	54360855	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon1:c.G283T:p.A95S;C18orf54:NM_001288980:exon3:c.G283T:p.A95S;C18orf54:NM_173529:exon2:c.G283T:p.A95S;C18orf54:NM_001288981:exon3:c.G283T:p.A95S;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon2:c.G283T:p.A95S;ENSG00000166845:ENST00000300091:exon2:c.G283T:p.A95S;	0.999983811717108	0.992
18	51887226	G	A	18	54360856	y	y	splicing	C18orf54(NM_001288981:exon3:c.283+1G>A;NM_001288980:exon3:c.283+1G>A;NM_173529:exon2:c.283+1G>A;NM_001288982:exon1:c.283+1G>A)	.	.	splicing	ENSG00000166845(ENST00000300091:exon2:c.283+1G>A;ENST00000382911:exon2:c.283+1G>A)	.	.	0.999954401362567	0.852
18	51887226	G	C	18	54360856	y	y	splicing	C18orf54(NM_001288981:exon3:c.283+1G>C;NM_001288980:exon3:c.283+1G>C;NM_173529:exon2:c.283+1G>C;NM_001288982:exon1:c.283+1G>C)	.	.	splicing	ENSG00000166845(ENST00000300091:exon2:c.283+1G>C;ENST00000382911:exon2:c.283+1G>C)	.	.	0.999954401362567	0.812
18	51887226	G	T	18	54360856	y	y	splicing	C18orf54(NM_001288981:exon3:c.283+1G>T;NM_001288980:exon3:c.283+1G>T;NM_173529:exon2:c.283+1G>T;NM_001288982:exon1:c.283+1G>T)	.	.	splicing	ENSG00000166845(ENST00000300091:exon2:c.283+1G>T;ENST00000382911:exon2:c.283+1G>T)	.	.	0.999954401362567	0.818
18	51887227	T	A	18	54360857	y	y	splicing	C18orf54(NM_001288981:exon3:c.283+2T>A;NM_001288980:exon3:c.283+2T>A;NM_173529:exon2:c.283+2T>A;NM_001288982:exon1:c.283+2T>A)	.	.	splicing	ENSG00000166845(ENST00000300091:exon2:c.283+2T>A;ENST00000382911:exon2:c.283+2T>A)	.	.	0.999962958601995	0.832
18	51887227	T	C	18	54360857	y	y	splicing	C18orf54(NM_001288981:exon3:c.283+2T>C;NM_001288980:exon3:c.283+2T>C;NM_173529:exon2:c.283+2T>C;NM_001288982:exon1:c.283+2T>C)	.	.	splicing	ENSG00000166845(ENST00000300091:exon2:c.283+2T>C;ENST00000382911:exon2:c.283+2T>C)	.	.	0.998828960818383	0.798
18	51887227	T	G	18	54360857	y	y	splicing	C18orf54(NM_001288981:exon3:c.283+2T>G;NM_001288980:exon3:c.283+2T>G;NM_173529:exon2:c.283+2T>G;NM_001288982:exon1:c.283+2T>G)	.	.	splicing	ENSG00000166845(ENST00000300091:exon2:c.283+2T>G;ENST00000382911:exon2:c.283+2T>G)	.	.	0.999962958601995	0.798
18	51887228	A	C	18	54360858	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999804449135876	0.932
18	51887228	A	G	18	54360858	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.995259644661568	0.728
18	51887228	A	T	18	54360858	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999914644848925	0.936
18	51887229	T	A	18	54360859	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.36419181703737E-5	0.012
18	51887229	T	C	18	54360859	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.24118963901726E-5	0.006
18	51887229	T	G	18	54360859	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.10995086627298E-4	0.004
18	51887230	G	A	18	54360860	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99982129076453	0.832
18	51887230	G	C	18	54360860	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999730479089391	0.882
18	51887230	G	T	18	54360860	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999927751404736	0.904
18	51887231	C	A	18	54360861	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.52962792401888E-5	0.01
18	51887231	C	G	18	54360861	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.97633564677569E-5	0.042
18	51887231	C	T	18	54360861	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.37690699446834E-4	0.014
18	51887232	T	A	18	54360862	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.59835243325414E-5	0.0
18	51887232	T	C	18	54360862	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.59835243325414E-5	0.0
18	51887232	T	G	18	54360862	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.11012838077627E-5	0.0
18	51887233	T	A	18	54360863	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.98095669535154E-5	0.002
18	51887233	T	C	18	54360863	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.1887953907527E-5	0.048
18	51887233	T	G	18	54360863	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.32507751720907E-4	0.058
18	51888001	T	A	18	54361631	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00414412166006411	0.086
18	51888001	T	C	18	54361631	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.24454088011097E-4	0.004
18	51888001	T	G	18	54361631	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00242508603621928	0.112
18	51888002	T	A	18	54361632	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.033258428653737	0.318
18	51888002	T	C	18	54361632	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.23211198480145E-4	0.078
18	51888002	T	G	18	54361632	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0135499099932076	0.204
18	51888003	C	A	18	54361633	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.997570710563723	0.96
18	51888003	C	G	18	54361633	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00107804891834786	0.088
18	51888003	C	T	18	54361633	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.00204387473793E-5	0.0
18	51888004	G	A	18	54361634	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.44914353081249E-4	0.028
18	51888004	G	C	18	54361634	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.65621845103338E-4	0.004
18	51888004	G	T	18	54361634	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.27767313650923E-4	0.002
18	51888005	T	A	18	54361635	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00182335717229431	0.152
18	51888005	T	C	18	54361635	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.92330304701838E-5	0.004
18	51888005	T	G	18	54361635	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00105596715834306	0.094
18	51888006	T	A	18	54361636	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0104311115545027	0.164
18	51888006	T	C	18	54361636	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.11860521051332E-4	0.078
18	51888006	T	G	18	54361636	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0160929308934618	0.156
18	51888007	T	A	18	54361637	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0653935100411791	0.288
18	51888007	T	C	18	54361637	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00117634089400227	0.114
18	51888007	T	G	18	54361637	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0407244507996578	0.292
18	51888008	T	A	18	54361638	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.303038290609716	0.496
18	51888008	T	C	18	54361638	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0178358660181631	0.136
18	51888008	T	G	18	54361638	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.346963913102255	0.496
18	51888009	T	A	18	54361639	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.66521855749051E-5	0.002
18	51888009	T	C	18	54361639	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.37401447161504E-5	0.002
18	51888009	T	G	18	54361639	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.56869754416766E-5	0.032
18	51888010	C	A	18	54361640	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.517047343147311	0.494
18	51888010	C	G	18	54361640	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999584230798083	0.924
18	51888010	C	T	18	54361640	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0118769042087638	0.152
18	51888011	A	C	18	54361641	y	y	splicing	C18orf54(NM_001288981:exon4:c.284-2A>C;NM_001288980:exon4:c.284-2A>C;NM_173529:exon3:c.284-2A>C;NM_001288982:exon2:c.284-2A>C)	.	.	splicing	ENSG00000166845(ENST00000300091:exon3:c.284-2A>C;ENST00000382911:exon3:c.284-2A>C)	.	.	0.999972155025474	0.838
18	51888011	A	G	18	54361641	y	y	splicing	C18orf54(NM_001288981:exon4:c.284-2A>G;NM_001288980:exon4:c.284-2A>G;NM_173529:exon3:c.284-2A>G;NM_001288982:exon2:c.284-2A>G)	.	.	splicing	ENSG00000166845(ENST00000300091:exon3:c.284-2A>G;ENST00000382911:exon3:c.284-2A>G)	.	.	0.999972155025474	0.818
18	51888011	A	T	18	54361641	y	y	splicing	C18orf54(NM_001288981:exon4:c.284-2A>T;NM_001288980:exon4:c.284-2A>T;NM_173529:exon3:c.284-2A>T;NM_001288982:exon2:c.284-2A>T)	.	.	splicing	ENSG00000166845(ENST00000300091:exon3:c.284-2A>T;ENST00000382911:exon3:c.284-2A>T)	.	.	0.999982151912279	0.892
18	51888012	G	A	18	54361642	y	y	splicing	C18orf54(NM_001288981:exon4:c.284-1G>A;NM_001288980:exon4:c.284-1G>A;NM_173529:exon3:c.284-1G>A;NM_001288982:exon2:c.284-1G>A)	.	.	splicing	ENSG00000166845(ENST00000300091:exon3:c.284-1G>A;ENST00000382911:exon3:c.284-1G>A)	.	.	0.999938422912956	0.956
18	51888012	G	C	18	54361642	y	y	splicing	C18orf54(NM_001288981:exon4:c.284-1G>C;NM_001288980:exon4:c.284-1G>C;NM_173529:exon3:c.284-1G>C;NM_001288982:exon2:c.284-1G>C)	.	.	splicing	ENSG00000166845(ENST00000300091:exon3:c.284-1G>C;ENST00000382911:exon3:c.284-1G>C)	.	.	0.999938990645747	0.956
18	51888012	G	T	18	54361642	y	y	splicing	C18orf54(NM_001288981:exon4:c.284-1G>T;NM_001288980:exon4:c.284-1G>T;NM_173529:exon3:c.284-1G>T;NM_001288982:exon2:c.284-1G>T)	.	.	splicing	ENSG00000166845(ENST00000300091:exon3:c.284-1G>T;ENST00000382911:exon3:c.284-1G>T)	.	.	0.999938422912956	0.956
18	51888013	C	A	18	54361643	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon2:c.C284A:p.A95D;C18orf54:NM_001288980:exon4:c.C284A:p.A95D;C18orf54:NM_173529:exon3:c.C284A:p.A95D;C18orf54:NM_001288981:exon4:c.C284A:p.A95D;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.C284A:p.A95D;ENSG00000166845:ENST00000300091:exon3:c.C284A:p.A95D;	0.941747668876529	0.598
18	51888013	C	G	18	54361643	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon2:c.C284G:p.A95G;C18orf54:NM_001288980:exon4:c.C284G:p.A95G;C18orf54:NM_173529:exon3:c.C284G:p.A95G;C18orf54:NM_001288981:exon4:c.C284G:p.A95G;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.C284G:p.A95G;ENSG00000166845:ENST00000300091:exon3:c.C284G:p.A95G;	0.0735867889424187	0.152
18	51888013	C	T	18	54361643	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon2:c.C284T:p.A95V;C18orf54:NM_001288980:exon4:c.C284T:p.A95V;C18orf54:NM_173529:exon3:c.C284T:p.A95V;C18orf54:NM_001288981:exon4:c.C284T:p.A95V;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.C284T:p.A95V;ENSG00000166845:ENST00000300091:exon3:c.C284T:p.A95V;	0.995726492702585	0.89
18	51888014	T	A	18	54361644	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon2:c.T285A:p.A95A;C18orf54:NM_001288980:exon4:c.T285A:p.A95A;C18orf54:NM_173529:exon3:c.T285A:p.A95A;C18orf54:NM_001288981:exon4:c.T285A:p.A95A;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.T285A:p.A95A;ENSG00000166845:ENST00000300091:exon3:c.T285A:p.A95A;	0.00530836329294435	0.288
18	51888014	T	C	18	54361644	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon2:c.T285C:p.A95A;C18orf54:NM_001288980:exon4:c.T285C:p.A95A;C18orf54:NM_173529:exon3:c.T285C:p.A95A;C18orf54:NM_001288981:exon4:c.T285C:p.A95A;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.T285C:p.A95A;ENSG00000166845:ENST00000300091:exon3:c.T285C:p.A95A;	0.00146538142918447	0.316
18	51888014	T	G	18	54361644	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon2:c.T285G:p.A95A;C18orf54:NM_001288980:exon4:c.T285G:p.A95A;C18orf54:NM_173529:exon3:c.T285G:p.A95A;C18orf54:NM_001288981:exon4:c.T285G:p.A95A;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.T285G:p.A95A;ENSG00000166845:ENST00000300091:exon3:c.T285G:p.A95A;	4.34621242667181E-4	0.204
18	51888799	G	A	18	54362429	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288980:exon4:c.G1070A:p.S357N;C18orf54:NM_001288981:exon4:c.G1070A:p.S357N;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.G1070A:p.S357N;	2.09450276291873E-4	0.004
18	51888799	G	C	18	54362429	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288980:exon4:c.G1070C:p.S357T;C18orf54:NM_001288981:exon4:c.G1070C:p.S357T;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.G1070C:p.S357T;	2.09450276291873E-4	0.004
18	51888799	G	T	18	54362429	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288980:exon4:c.G1070T:p.S357I;C18orf54:NM_001288981:exon4:c.G1070T:p.S357I;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.G1070T:p.S357I;	0.00106284602294121	0.07
18	51888800	T	A	18	54362430	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288980:exon4:c.T1071A:p.S357R;C18orf54:NM_001288981:exon4:c.T1071A:p.S357R;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.T1071A:p.S357R;	0.00493089128035242	0.018
18	51888800	T	C	18	54362430	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288980:exon4:c.T1071C:p.S357S;C18orf54:NM_001288981:exon4:c.T1071C:p.S357S;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.T1071C:p.S357S;	0.0074211786276047	0.024
18	51888800	T	G	18	54362430	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288980:exon4:c.T1071G:p.S357R;C18orf54:NM_001288981:exon4:c.T1071G:p.S357R;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.T1071G:p.S357R;	0.00493089128035242	0.014
18	51888801	G	A	18	54362431	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288980:exon4:c.G1072A:p.G358S;C18orf54:NM_001288981:exon4:c.G1072A:p.G358S;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.G1072A:p.G358S;	0.943142013421285	0.828
18	51888801	G	C	18	54362431	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288980:exon4:c.G1072C:p.G358R;C18orf54:NM_001288981:exon4:c.G1072C:p.G358R;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.G1072C:p.G358R;	0.985954147223988	0.848
18	51888801	G	T	18	54362431	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288980:exon4:c.G1072T:p.G358C;C18orf54:NM_001288981:exon4:c.G1072T:p.G358C;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon3:c.G1072T:p.G358C;	0.984819767516907	0.848
18	51888802	G	A	18	54362432	y	y	splicing	C18orf54(NM_001288981:exon4:c.1072+1G>A;NM_001288980:exon4:c.1072+1G>A)	.	.	splicing	ENSG00000166845(ENST00000382911:exon3:c.1072+1G>A)	.	.	0.985954147223988	0.866
18	51888802	G	C	18	54362432	y	y	splicing	C18orf54(NM_001288981:exon4:c.1072+1G>C;NM_001288980:exon4:c.1072+1G>C)	.	.	splicing	ENSG00000166845(ENST00000382911:exon3:c.1072+1G>C)	.	.	0.985954147223988	0.85
18	51888802	G	T	18	54362432	y	y	splicing	C18orf54(NM_001288981:exon4:c.1072+1G>T;NM_001288980:exon4:c.1072+1G>T)	.	.	splicing	ENSG00000166845(ENST00000382911:exon3:c.1072+1G>T)	.	.	0.985954147223988	0.858
18	51888803	T	A	18	54362433	y	y	splicing	C18orf54(NM_001288981:exon4:c.1072+2T>A;NM_001288980:exon4:c.1072+2T>A)	.	.	splicing	ENSG00000166845(ENST00000382911:exon3:c.1072+2T>A)	.	.	0.811093109864547	0.704
18	51888803	T	C	18	54362433	y	y	splicing	C18orf54(NM_001288981:exon4:c.1072+2T>C;NM_001288980:exon4:c.1072+2T>C)	.	.	splicing	ENSG00000166845(ENST00000382911:exon3:c.1072+2T>C)	.	.	0.811093109864547	0.694
18	51888803	T	G	18	54362433	y	y	splicing	C18orf54(NM_001288981:exon4:c.1072+2T>G;NM_001288980:exon4:c.1072+2T>G)	.	.	splicing	ENSG00000166845(ENST00000382911:exon3:c.1072+2T>G)	.	.	0.811093109864547	0.694
18	51888804	A	C	18	54362434	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0110028651590261	0.026
18	51888804	A	G	18	54362434	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0110028651590261	0.026
18	51888804	A	T	18	54362434	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.013217798198991	0.026
18	51888805	A	C	18	54362435	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0110028651590261	0.026
18	51888805	A	G	18	54362435	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0110028651590261	0.026
18	51888805	A	T	18	54362435	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.013217798198991	0.026
18	51888806	T	A	18	54362436	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00243155505256126	0.006
18	51888806	T	C	18	54362436	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00135007588865549	0.002
18	51888806	T	G	18	54362436	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00135007588865549	0.002
18	51888807	A	C	18	54362437	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.29042998276821E-4	0.002
18	51888807	A	G	18	54362437	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.29042998276821E-4	0.002
18	51888807	A	T	18	54362437	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00135007588865549	0.002
18	51888808	C	A	18	54362438	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.52881759733747E-5	0.0
18	51888808	C	G	18	54362438	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.52881759733747E-5	0.0
18	51888808	C	T	18	54362438	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.30945796578933E-5	0.002
18	51888809	T	A	18	54362439	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.09395893123295E-5	0.002
18	51888809	T	C	18	54362439	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.09395893123295E-5	0.002
18	51888809	T	G	18	54362439	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.09395893123295E-5	0.002
18	51889129	T	A	18	54362759	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999781792643021	0.944
18	51889129	T	C	18	54362759	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.32223728343315	0.29
18	51889129	T	G	18	54362759	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999182486704328	0.906
18	51889130	T	A	18	54362760	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999510700211829	0.922
18	51889130	T	C	18	54362760	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.644798603754941	0.402
18	51889130	T	G	18	54362760	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.998877184189496	0.914
18	51889131	T	A	18	54362761	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999728778108832	0.924
18	51889131	T	C	18	54362761	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.266529300031792	0.322
18	51889131	T	G	18	54362761	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.997290800629282	0.872
18	51889132	T	A	18	54362762	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.969210704867228	0.84
18	51889132	T	C	18	54362762	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0144770811162677	0.104
18	51889132	T	G	18	54362762	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.993461677641447	0.842
18	51889133	A	C	18	54362763	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.56424648672786E-4	0.024
18	51889133	A	G	18	54362763	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.421843092429E-5	0.002
18	51889133	A	T	18	54362763	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.57580335073436E-5	0.012
18	51889134	C	A	18	54362764	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00184730130382528	0.102
18	51889134	C	G	18	54362764	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999052844772343	0.974
18	51889134	C	T	18	54362764	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.0746391011312E-5	0.0
18	51889135	A	C	18	54362765	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	5.4760759351136E-4	0.012
18	51889135	A	G	18	54362765	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00387727947944991	0.052
18	51889135	A	T	18	54362765	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.35717407038173E-4	0.04
18	51889136	A	C	18	54362766	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.37070935755028E-4	0.062
18	51889136	A	G	18	54362766	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999063098334886	0.91
18	51889136	A	T	18	54362766	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00266771380281959	0.074
18	51889137	T	A	18	54362767	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00239394619062727	0.01
18	51889137	T	C	18	54362767	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.36247740894096E-4	0.092
18	51889137	T	G	18	54362767	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.998895193493025	0.958
18	51889138	T	A	18	54362768	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.179475379455731	0.41
18	51889138	T	C	18	54362768	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.48841169438337E-4	0.156
18	51889138	T	G	18	54362768	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99714969062565	0.796
18	51889139	A	C	18	54362769	y	y	splicing	C18orf54(NM_001288981:exon5:c.1073-2A>C;NM_001288980:exon5:c.1073-2A>C;NM_173529:exon4:c.590-2A>C;NM_001288982:exon3:c.533-2A>C)	.	.	splicing	ENSG00000166845(ENST00000300091:exon4:c.590-2A>C;ENST00000382911:exon4:c.1073-2A>C)	.	.	0.999992689121502	0.93
18	51889139	A	G	18	54362769	y	y	splicing	C18orf54(NM_001288981:exon5:c.1073-2A>G;NM_001288980:exon5:c.1073-2A>G;NM_173529:exon4:c.590-2A>G;NM_001288982:exon3:c.533-2A>G)	.	.	splicing	ENSG00000166845(ENST00000300091:exon4:c.590-2A>G;ENST00000382911:exon4:c.1073-2A>G)	.	.	0.999992689121502	0.93
18	51889139	A	T	18	54362769	y	y	splicing	C18orf54(NM_001288981:exon5:c.1073-2A>T;NM_001288980:exon5:c.1073-2A>T;NM_173529:exon4:c.590-2A>T;NM_001288982:exon3:c.533-2A>T)	.	.	splicing	ENSG00000166845(ENST00000300091:exon4:c.590-2A>T;ENST00000382911:exon4:c.1073-2A>T)	.	.	0.999992689121502	0.928
18	51889140	G	A	18	54362770	y	y	splicing	C18orf54(NM_001288981:exon5:c.1073-1G>A;NM_001288980:exon5:c.1073-1G>A;NM_173529:exon4:c.590-1G>A;NM_001288982:exon3:c.533-1G>A)	.	.	splicing	ENSG00000166845(ENST00000300091:exon4:c.590-1G>A;ENST00000382911:exon4:c.1073-1G>A)	.	.	0.999986741007567	0.94
18	51889140	G	C	18	54362770	y	y	splicing	C18orf54(NM_001288981:exon5:c.1073-1G>C;NM_001288980:exon5:c.1073-1G>C;NM_173529:exon4:c.590-1G>C;NM_001288982:exon3:c.533-1G>C)	.	.	splicing	ENSG00000166845(ENST00000300091:exon4:c.590-1G>C;ENST00000382911:exon4:c.1073-1G>C)	.	.	0.999986741007567	0.938
18	51889140	G	T	18	54362770	y	y	splicing	C18orf54(NM_001288981:exon5:c.1073-1G>T;NM_001288980:exon5:c.1073-1G>T;NM_173529:exon4:c.590-1G>T;NM_001288982:exon3:c.533-1G>T)	.	.	splicing	ENSG00000166845(ENST00000300091:exon4:c.590-1G>T;ENST00000382911:exon4:c.1073-1G>T)	.	.	0.999986741007567	0.938
18	51889141	G	A	18	54362771	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.G533A:p.G178D;C18orf54:NM_001288980:exon5:c.G1073A:p.G358D;C18orf54:NM_173529:exon4:c.G590A:p.G197D;C18orf54:NM_001288981:exon5:c.G1073A:p.G358D;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.G1073A:p.G358D;ENSG00000166845:ENST00000300091:exon4:c.G590A:p.G197D;	0.39610963400325	0.54
18	51889141	G	C	18	54362771	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.G533C:p.G178A;C18orf54:NM_001288980:exon5:c.G1073C:p.G358A;C18orf54:NM_173529:exon4:c.G590C:p.G197A;C18orf54:NM_001288981:exon5:c.G1073C:p.G358A;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.G1073C:p.G358A;ENSG00000166845:ENST00000300091:exon4:c.G590C:p.G197A;	0.990983801899137	0.822
18	51889141	G	T	18	54362771	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.G533T:p.G178V;C18orf54:NM_001288980:exon5:c.G1073T:p.G358V;C18orf54:NM_173529:exon4:c.G590T:p.G197V;C18orf54:NM_001288981:exon5:c.G1073T:p.G358V;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.G1073T:p.G358V;ENSG00000166845:ENST00000300091:exon4:c.G590T:p.G197V;	0.998860407468547	0.96
18	51889142	T	A	18	54362772	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon3:c.T534A:p.G178G;C18orf54:NM_001288980:exon5:c.T1074A:p.G358G;C18orf54:NM_173529:exon4:c.T591A:p.G197G;C18orf54:NM_001288981:exon5:c.T1074A:p.G358G;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1074A:p.G358G;ENSG00000166845:ENST00000300091:exon4:c.T591A:p.G197G;	0.272781183006785	0.222
18	51889142	T	C	18	54362772	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon3:c.T534C:p.G178G;C18orf54:NM_001288980:exon5:c.T1074C:p.G358G;C18orf54:NM_173529:exon4:c.T591C:p.G197G;C18orf54:NM_001288981:exon5:c.T1074C:p.G358G;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1074C:p.G358G;ENSG00000166845:ENST00000300091:exon4:c.T591C:p.G197G;	0.229511575730263	0.188
18	51889142	T	G	18	54362772	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon3:c.T534G:p.G178G;C18orf54:NM_001288980:exon5:c.T1074G:p.G358G;C18orf54:NM_173529:exon4:c.T591G:p.G197G;C18orf54:NM_001288981:exon5:c.T1074G:p.G358G;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1074G:p.G358G;ENSG00000166845:ENST00000300091:exon4:c.T591G:p.G197G;	0.0711139325358727	0.16
18	51889289	T	A	18	54362919	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon3:c.T681A:p.T227T;C18orf54:NM_001288980:exon5:c.T1221A:p.T407T;C18orf54:NM_173529:exon4:c.T738A:p.T246T;C18orf54:NM_001288981:exon5:c.T1221A:p.T407T;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1221A:p.T407T;ENSG00000166845:ENST00000300091:exon4:c.T738A:p.T246T;ENSG00000166845:ENST00000578138:exon2:c.T75A:p.T25T;	3.7474864775731E-5	0.004
18	51889289	T	C	18	54362919	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon3:c.T681C:p.T227T;C18orf54:NM_001288980:exon5:c.T1221C:p.T407T;C18orf54:NM_173529:exon4:c.T738C:p.T246T;C18orf54:NM_001288981:exon5:c.T1221C:p.T407T;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1221C:p.T407T;ENSG00000166845:ENST00000300091:exon4:c.T738C:p.T246T;ENSG00000166845:ENST00000578138:exon2:c.T75C:p.T25T;	3.80968966308945E-5	0.004
18	51889289	T	G	18	54362919	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon3:c.T681G:p.T227T;C18orf54:NM_001288980:exon5:c.T1221G:p.T407T;C18orf54:NM_173529:exon4:c.T738G:p.T246T;C18orf54:NM_001288981:exon5:c.T1221G:p.T407T;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1221G:p.T407T;ENSG00000166845:ENST00000300091:exon4:c.T738G:p.T246T;ENSG00000166845:ENST00000578138:exon2:c.T75G:p.T25T;	5.67983039158802E-5	0.022
18	51889290	T	A	18	54362920	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.T682A:p.F228I;C18orf54:NM_001288980:exon5:c.T1222A:p.F408I;C18orf54:NM_173529:exon4:c.T739A:p.F247I;C18orf54:NM_001288981:exon5:c.T1222A:p.F408I;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1222A:p.F408I;ENSG00000166845:ENST00000300091:exon4:c.T739A:p.F247I;ENSG00000166845:ENST00000578138:exon2:c.T76A:p.F26I;	0.0149493642278159	0.106
18	51889290	T	C	18	54362920	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.T682C:p.F228L;C18orf54:NM_001288980:exon5:c.T1222C:p.F408L;C18orf54:NM_173529:exon4:c.T739C:p.F247L;C18orf54:NM_001288981:exon5:c.T1222C:p.F408L;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1222C:p.F408L;ENSG00000166845:ENST00000300091:exon4:c.T739C:p.F247L;ENSG00000166845:ENST00000578138:exon2:c.T76C:p.F26L;	0.00294650931751992	0.082
18	51889290	T	G	18	54362920	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.T682G:p.F228V;C18orf54:NM_001288980:exon5:c.T1222G:p.F408V;C18orf54:NM_173529:exon4:c.T739G:p.F247V;C18orf54:NM_001288981:exon5:c.T1222G:p.F408V;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1222G:p.F408V;ENSG00000166845:ENST00000300091:exon4:c.T739G:p.F247V;ENSG00000166845:ENST00000578138:exon2:c.T76G:p.F26V;	0.0217266399101701	0.284
18	51889291	T	A	18	54362921	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.T683A:p.F228Y;C18orf54:NM_001288980:exon5:c.T1223A:p.F408Y;C18orf54:NM_173529:exon4:c.T740A:p.F247Y;C18orf54:NM_001288981:exon5:c.T1223A:p.F408Y;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1223A:p.F408Y;ENSG00000166845:ENST00000300091:exon4:c.T740A:p.F247Y;ENSG00000166845:ENST00000578138:exon2:c.T77A:p.F26Y;	0.00606994021613428	0.044
18	51889291	T	C	18	54362921	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.T683C:p.F228S;C18orf54:NM_001288980:exon5:c.T1223C:p.F408S;C18orf54:NM_173529:exon4:c.T740C:p.F247S;C18orf54:NM_001288981:exon5:c.T1223C:p.F408S;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1223C:p.F408S;ENSG00000166845:ENST00000300091:exon4:c.T740C:p.F247S;ENSG00000166845:ENST00000578138:exon2:c.T77C:p.F26S;	0.0407902703710402	0.404
18	51889291	T	G	18	54362921	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon3:c.T683G:p.F228C;C18orf54:NM_001288980:exon5:c.T1223G:p.F408C;C18orf54:NM_173529:exon4:c.T740G:p.F247C;C18orf54:NM_001288981:exon5:c.T1223G:p.F408C;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon4:c.T1223G:p.F408C;ENSG00000166845:ENST00000300091:exon4:c.T740G:p.F247C;ENSG00000166845:ENST00000578138:exon2:c.T77G:p.F26C;	0.00329723351351658	0.138
18	51889292	G	A	18	54362922	y	y	splicing	C18orf54(NM_001288981:exon5:c.1223+1G>A;NM_001288980:exon5:c.1223+1G>A;NM_173529:exon4:c.740+1G>A;NM_001288982:exon3:c.683+1G>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon2:c.77+1G>A;ENST00000300091:exon4:c.740+1G>A;ENST00000382911:exon4:c.1223+1G>A)	.	.	0.999966203349492	0.914
18	51889292	G	C	18	54362922	y	y	splicing	C18orf54(NM_001288981:exon5:c.1223+1G>C;NM_001288980:exon5:c.1223+1G>C;NM_173529:exon4:c.740+1G>C;NM_001288982:exon3:c.683+1G>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon2:c.77+1G>C;ENST00000300091:exon4:c.740+1G>C;ENST00000382911:exon4:c.1223+1G>C)	.	.	0.999966203349492	0.918
18	51889292	G	T	18	54362922	y	y	splicing	C18orf54(NM_001288981:exon5:c.1223+1G>T;NM_001288980:exon5:c.1223+1G>T;NM_173529:exon4:c.740+1G>T;NM_001288982:exon3:c.683+1G>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon2:c.77+1G>T;ENST00000300091:exon4:c.740+1G>T;ENST00000382911:exon4:c.1223+1G>T)	.	.	0.999966203349492	0.916
18	51889293	T	A	18	54362923	y	y	splicing	C18orf54(NM_001288981:exon5:c.1223+2T>A;NM_001288980:exon5:c.1223+2T>A;NM_173529:exon4:c.740+2T>A;NM_001288982:exon3:c.683+2T>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon2:c.77+2T>A;ENST00000300091:exon4:c.740+2T>A;ENST00000382911:exon4:c.1223+2T>A)	.	.	0.999978791067592	0.912
18	51889293	T	C	18	54362923	y	y	splicing	C18orf54(NM_001288981:exon5:c.1223+2T>C;NM_001288980:exon5:c.1223+2T>C;NM_173529:exon4:c.740+2T>C;NM_001288982:exon3:c.683+2T>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon2:c.77+2T>C;ENST00000300091:exon4:c.740+2T>C;ENST00000382911:exon4:c.1223+2T>C)	.	.	0.996582647343118	0.684
18	51889293	T	G	18	54362923	y	y	splicing	C18orf54(NM_001288981:exon5:c.1223+2T>G;NM_001288980:exon5:c.1223+2T>G;NM_173529:exon4:c.740+2T>G;NM_001288982:exon3:c.683+2T>G)	.	.	splicing	ENSG00000166845(ENST00000578138:exon2:c.77+2T>G;ENST00000300091:exon4:c.740+2T>G;ENST00000382911:exon4:c.1223+2T>G)	.	.	0.999978791067592	0.916
18	51889294	A	C	18	54362924	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.998857877262132	0.886
18	51889294	A	G	18	54362924	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.103988317675331	0.316
18	51889294	A	T	18	54362924	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.998992431469148	0.92
18	51889295	A	C	18	54362925	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.994324050678252	0.602
18	51889295	A	G	18	54362925	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99940835683407	0.862
18	51889295	A	T	18	54362925	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99868651563207	0.782
18	51889296	G	A	18	54362926	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999985348015312	0.994
18	51889296	G	C	18	54362926	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999983874220329	0.944
18	51889296	G	T	18	54362926	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999979576468003	0.984
18	51889297	T	A	18	54362927	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.990356873958422	0.76
18	51889297	T	C	18	54362927	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.995485845239052	0.892
18	51889297	T	G	18	54362927	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.987445813700137	0.806
18	51889298	A	C	18	54362928	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0109074800907855	0.04
18	51889298	A	G	18	54362928	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0109074800907855	0.04
18	51889298	A	T	18	54362928	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00438248620049888	0.026
18	51889299	A	C	18	54362929	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.58727435772007E-4	0.0
18	51889299	A	G	18	54362929	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.82453136298288E-4	0.0
18	51889299	A	T	18	54362929	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.2642550535657E-4	0.002
18	51892077	A	C	18	54365707	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.45549659048203E-4	0.022
18	51892077	A	G	18	54365707	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999199576162124	0.92
18	51892077	A	T	18	54365707	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	5.62981850348925E-4	0.116
18	51892078	A	C	18	54365708	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.68285741241366E-6	0.008
18	51892078	A	G	18	54365708	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.970037886544515	0.952
18	51892078	A	T	18	54365708	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.90190880144488E-5	0.044
18	51892079	T	A	18	54365709	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.486975504860736	0.568
18	51892079	T	C	18	54365709	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00354099260345817	0.156
18	51892079	T	G	18	54365709	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999366739913788	0.928
18	51892080	C	A	18	54365710	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00256803986639228	0.144
18	51892080	C	G	18	54365710	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00626815932933095	0.13
18	51892080	C	T	18	54365710	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.69772097938616E-5	0.076
18	51892081	C	A	18	54365711	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00785640711412496	0.35
18	51892081	C	G	18	54365711	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00332647068942957	0.324
18	51892081	C	T	18	54365711	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.19698174408607E-4	0.026
18	51892082	T	A	18	54365712	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999528627718668	0.966
18	51892082	T	C	18	54365712	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.23030180788092E-4	0.026
18	51892082	T	G	18	54365712	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0115787853221525	0.358
18	51892083	G	A	18	54365713	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.44045476363304E-5	0.018
18	51892083	G	C	18	54365713	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.23381672564543E-5	0.028
18	51892083	G	T	18	54365713	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.44567246961622E-5	0.002
18	51892084	T	A	18	54365714	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.887155486749945	0.7
18	51892084	T	C	18	54365714	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0348073928011964	0.318
18	51892084	T	G	18	54365714	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.955447141525185	0.75
18	51892085	T	A	18	54365715	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.4261862497279E-4	0.014
18	51892085	T	C	18	54365715	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.09417255045019E-5	0.022
18	51892085	T	G	18	54365715	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.00505568115508E-5	0.028
18	51892086	T	A	18	54365716	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0680433359190755	0.394
18	51892086	T	C	18	54365716	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.72243861695718E-5	0.046
18	51892086	T	G	18	54365716	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.667721529013146	0.584
18	51892087	A	C	18	54365717	y	y	splicing	C18orf54(NM_001288981:exon6:c.1224-2A>C;NM_001288980:exon6:c.1224-2A>C;NM_173529:exon5:c.741-2A>C;NM_001288982:exon4:c.684-2A>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.78-2A>C;ENST00000300091:exon5:c.741-2A>C;ENST00000382911:exon5:c.1224-2A>C)	.	.	0.99994515364607	0.888
18	51892087	A	G	18	54365717	y	y	splicing	C18orf54(NM_001288981:exon6:c.1224-2A>G;NM_001288980:exon6:c.1224-2A>G;NM_173529:exon5:c.741-2A>G;NM_001288982:exon4:c.684-2A>G)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.78-2A>G;ENST00000300091:exon5:c.741-2A>G;ENST00000382911:exon5:c.1224-2A>G)	.	.	0.99994515364607	0.888
18	51892087	A	T	18	54365717	y	y	splicing	C18orf54(NM_001288981:exon6:c.1224-2A>T;NM_001288980:exon6:c.1224-2A>T;NM_173529:exon5:c.741-2A>T;NM_001288982:exon4:c.684-2A>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.78-2A>T;ENST00000300091:exon5:c.741-2A>T;ENST00000382911:exon5:c.1224-2A>T)	.	.	0.99994515364607	0.888
18	51892088	G	A	18	54365718	y	y	splicing	C18orf54(NM_001288981:exon6:c.1224-1G>A;NM_001288980:exon6:c.1224-1G>A;NM_173529:exon5:c.741-1G>A;NM_001288982:exon4:c.684-1G>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.78-1G>A;ENST00000300091:exon5:c.741-1G>A;ENST00000382911:exon5:c.1224-1G>A)	.	.	0.99998761664516	0.882
18	51892088	G	C	18	54365718	y	y	splicing	C18orf54(NM_001288981:exon6:c.1224-1G>C;NM_001288980:exon6:c.1224-1G>C;NM_173529:exon5:c.741-1G>C;NM_001288982:exon4:c.684-1G>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.78-1G>C;ENST00000300091:exon5:c.741-1G>C;ENST00000382911:exon5:c.1224-1G>C)	.	.	0.99998761664516	0.882
18	51892088	G	T	18	54365718	y	y	splicing	C18orf54(NM_001288981:exon6:c.1224-1G>T;NM_001288980:exon6:c.1224-1G>T;NM_173529:exon5:c.741-1G>T;NM_001288982:exon4:c.684-1G>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.78-1G>T;ENST00000300091:exon5:c.741-1G>T;ENST00000382911:exon5:c.1224-1G>T)	.	.	0.99998761664516	0.882
18	51892089	C	A	18	54365719	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.C684A:p.F228L;C18orf54:NM_001288980:exon6:c.C1224A:p.F408L;C18orf54:NM_173529:exon5:c.C741A:p.F247L;C18orf54:NM_001288981:exon6:c.C1224A:p.F408L;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.C1224A:p.F408L;ENSG00000166845:ENST00000300091:exon5:c.C741A:p.F247L;ENSG00000166845:ENST00000578138:exon3:c.C78A:p.F26L;	9.38419518453631E-4	0.048
18	51892089	C	G	18	54365719	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.C684G:p.F228L;C18orf54:NM_001288980:exon6:c.C1224G:p.F408L;C18orf54:NM_173529:exon5:c.C741G:p.F247L;C18orf54:NM_001288981:exon6:c.C1224G:p.F408L;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.C1224G:p.F408L;ENSG00000166845:ENST00000300091:exon5:c.C741G:p.F247L;ENSG00000166845:ENST00000578138:exon3:c.C78G:p.F26L;	0.00190693015572588	0.108
18	51892089	C	T	18	54365719	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon4:c.C684T:p.F228F;C18orf54:NM_001288980:exon6:c.C1224T:p.F408F;C18orf54:NM_173529:exon5:c.C741T:p.F247F;C18orf54:NM_001288981:exon6:c.C1224T:p.F408F;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.C1224T:p.F408F;ENSG00000166845:ENST00000300091:exon5:c.C741T:p.F247F;ENSG00000166845:ENST00000578138:exon3:c.C78T:p.F26F;	0.016951373434059	0.346
18	51892090	A	C	18	54365720	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.A685C:p.K229Q;C18orf54:NM_001288980:exon6:c.A1225C:p.K409Q;C18orf54:NM_173529:exon5:c.A742C:p.K248Q;C18orf54:NM_001288981:exon6:c.A1225C:p.K409Q;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.A1225C:p.K409Q;ENSG00000166845:ENST00000300091:exon5:c.A742C:p.K248Q;ENSG00000166845:ENST00000578138:exon3:c.A79C:p.K27Q;	0.0185908776722628	0.218
18	51892090	A	G	18	54365720	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.A685G:p.K229E;C18orf54:NM_001288980:exon6:c.A1225G:p.K409E;C18orf54:NM_173529:exon5:c.A742G:p.K248E;C18orf54:NM_001288981:exon6:c.A1225G:p.K409E;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.A1225G:p.K409E;ENSG00000166845:ENST00000300091:exon5:c.A742G:p.K248E;ENSG00000166845:ENST00000578138:exon3:c.A79G:p.K27E;	0.0215783366451441	0.188
18	51892090	A	T	18	54365720	y	y	exonic	C18orf54	stopgain SNV	C18orf54:NM_001288982:exon4:c.A685T:p.K229X;C18orf54:NM_001288980:exon6:c.A1225T:p.K409X;C18orf54:NM_173529:exon5:c.A742T:p.K248X;C18orf54:NM_001288981:exon6:c.A1225T:p.K409X;	exonic	ENSG00000166845	stopgain SNV	ENSG00000166845:ENST00000382911:exon5:c.A1225T:p.K409X;ENSG00000166845:ENST00000300091:exon5:c.A742T:p.K248X;ENSG00000166845:ENST00000578138:exon3:c.A79T:p.K27X;	0.945697225575389	0.84
18	51892189	C	A	18	54365819	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.C784A:p.Q262K;C18orf54:NM_001288980:exon6:c.C1324A:p.Q442K;C18orf54:NM_173529:exon5:c.C841A:p.Q281K;C18orf54:NM_001288981:exon6:c.C1324A:p.Q442K;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.C1324A:p.Q442K;ENSG00000166845:ENST00000300091:exon5:c.C841A:p.Q281K;ENSG00000166845:ENST00000578138:exon3:c.C178A:p.Q60K;	4.18017804195331E-4	0.094
18	51892189	C	G	18	54365819	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.C784G:p.Q262E;C18orf54:NM_001288980:exon6:c.C1324G:p.Q442E;C18orf54:NM_173529:exon5:c.C841G:p.Q281E;C18orf54:NM_001288981:exon6:c.C1324G:p.Q442E;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.C1324G:p.Q442E;ENSG00000166845:ENST00000300091:exon5:c.C841G:p.Q281E;ENSG00000166845:ENST00000578138:exon3:c.C178G:p.Q60E;	8.54136746175363E-4	0.124
18	51892189	C	T	18	54365819	y	y	exonic	C18orf54	stopgain SNV	C18orf54:NM_001288982:exon4:c.C784T:p.Q262X;C18orf54:NM_001288980:exon6:c.C1324T:p.Q442X;C18orf54:NM_173529:exon5:c.C841T:p.Q281X;C18orf54:NM_001288981:exon6:c.C1324T:p.Q442X;	exonic	ENSG00000166845	stopgain SNV	ENSG00000166845:ENST00000382911:exon5:c.C1324T:p.Q442X;ENSG00000166845:ENST00000300091:exon5:c.C841T:p.Q281X;ENSG00000166845:ENST00000578138:exon3:c.C178T:p.Q60X;	0.957080017668075	0.734
18	51892190	A	C	18	54365820	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.A785C:p.Q262P;C18orf54:NM_001288980:exon6:c.A1325C:p.Q442P;C18orf54:NM_173529:exon5:c.A842C:p.Q281P;C18orf54:NM_001288981:exon6:c.A1325C:p.Q442P;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.A1325C:p.Q442P;ENSG00000166845:ENST00000300091:exon5:c.A842C:p.Q281P;ENSG00000166845:ENST00000578138:exon3:c.A179C:p.Q60P;	0.206018396347866	0.622
18	51892190	A	G	18	54365820	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.A785G:p.Q262R;C18orf54:NM_001288980:exon6:c.A1325G:p.Q442R;C18orf54:NM_173529:exon5:c.A842G:p.Q281R;C18orf54:NM_001288981:exon6:c.A1325G:p.Q442R;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.A1325G:p.Q442R;ENSG00000166845:ENST00000300091:exon5:c.A842G:p.Q281R;ENSG00000166845:ENST00000578138:exon3:c.A179G:p.Q60R;	0.794176298570503	0.608
18	51892190	A	T	18	54365820	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.A785T:p.Q262L;C18orf54:NM_001288980:exon6:c.A1325T:p.Q442L;C18orf54:NM_173529:exon5:c.A842T:p.Q281L;C18orf54:NM_001288981:exon6:c.A1325T:p.Q442L;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.A1325T:p.Q442L;ENSG00000166845:ENST00000300091:exon5:c.A842T:p.Q281L;ENSG00000166845:ENST00000578138:exon3:c.A179T:p.Q60L;	0.716976913984924	0.588
18	51892191	G	A	18	54365821	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon4:c.G786A:p.Q262Q;C18orf54:NM_001288980:exon6:c.G1326A:p.Q442Q;C18orf54:NM_173529:exon5:c.G843A:p.Q281Q;C18orf54:NM_001288981:exon6:c.G1326A:p.Q442Q;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.G1326A:p.Q442Q;ENSG00000166845:ENST00000300091:exon5:c.G843A:p.Q281Q;ENSG00000166845:ENST00000578138:exon3:c.G180A:p.Q60Q;	0.999365695979597	0.882
18	51892191	G	C	18	54365821	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.G786C:p.Q262H;C18orf54:NM_001288980:exon6:c.G1326C:p.Q442H;C18orf54:NM_173529:exon5:c.G843C:p.Q281H;C18orf54:NM_001288981:exon6:c.G1326C:p.Q442H;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.G1326C:p.Q442H;ENSG00000166845:ENST00000300091:exon5:c.G843C:p.Q281H;ENSG00000166845:ENST00000578138:exon3:c.G180C:p.Q60H;	0.999983297591358	0.896
18	51892191	G	T	18	54365821	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon4:c.G786T:p.Q262H;C18orf54:NM_001288980:exon6:c.G1326T:p.Q442H;C18orf54:NM_173529:exon5:c.G843T:p.Q281H;C18orf54:NM_001288981:exon6:c.G1326T:p.Q442H;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon5:c.G1326T:p.Q442H;ENSG00000166845:ENST00000300091:exon5:c.G843T:p.Q281H;ENSG00000166845:ENST00000578138:exon3:c.G180T:p.Q60H;	0.999701890503395	0.904
18	51892192	G	A	18	54365822	y	y	splicing	C18orf54(NM_001288981:exon6:c.1326+1G>A;NM_001288980:exon6:c.1326+1G>A;NM_173529:exon5:c.843+1G>A;NM_001288982:exon4:c.786+1G>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.180+1G>A;ENST00000300091:exon5:c.843+1G>A;ENST00000382911:exon5:c.1326+1G>A)	.	.	0.999969620222061	0.818
18	51892192	G	C	18	54365822	y	y	splicing	C18orf54(NM_001288981:exon6:c.1326+1G>C;NM_001288980:exon6:c.1326+1G>C;NM_173529:exon5:c.843+1G>C;NM_001288982:exon4:c.786+1G>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.180+1G>C;ENST00000300091:exon5:c.843+1G>C;ENST00000382911:exon5:c.1326+1G>C)	.	.	0.999983806599646	0.798
18	51892192	G	T	18	54365822	y	y	splicing	C18orf54(NM_001288981:exon6:c.1326+1G>T;NM_001288980:exon6:c.1326+1G>T;NM_173529:exon5:c.843+1G>T;NM_001288982:exon4:c.786+1G>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.180+1G>T;ENST00000300091:exon5:c.843+1G>T;ENST00000382911:exon5:c.1326+1G>T)	.	.	0.999969620222061	0.814
18	51892193	T	A	18	54365823	y	y	splicing	C18orf54(NM_001288981:exon6:c.1326+2T>A;NM_001288980:exon6:c.1326+2T>A;NM_173529:exon5:c.843+2T>A;NM_001288982:exon4:c.786+2T>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.180+2T>A;ENST00000300091:exon5:c.843+2T>A;ENST00000382911:exon5:c.1326+2T>A)	.	.	0.999962958601995	0.838
18	51892193	T	C	18	54365823	y	y	splicing	C18orf54(NM_001288981:exon6:c.1326+2T>C;NM_001288980:exon6:c.1326+2T>C;NM_173529:exon5:c.843+2T>C;NM_001288982:exon4:c.786+2T>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.180+2T>C;ENST00000300091:exon5:c.843+2T>C;ENST00000382911:exon5:c.1326+2T>C)	.	.	0.999251437299852	0.738
18	51892193	T	G	18	54365823	y	y	splicing	C18orf54(NM_001288981:exon6:c.1326+2T>G;NM_001288980:exon6:c.1326+2T>G;NM_173529:exon5:c.843+2T>G;NM_001288982:exon4:c.786+2T>G)	.	.	splicing	ENSG00000166845(ENST00000578138:exon3:c.180+2T>G;ENST00000300091:exon5:c.843+2T>G;ENST00000382911:exon5:c.1326+2T>G)	.	.	0.999962958601995	0.802
18	51892194	G	A	18	54365824	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.7170279218718E-6	0.058
18	51892194	G	C	18	54365824	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00248746059789399	0.16
18	51892194	G	T	18	54365824	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00266995074267983	0.182
18	51892195	G	A	18	54365825	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.13404166468749E-5	0.04
18	51892195	G	C	18	54365825	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.13702152245734E-5	0.024
18	51892195	G	T	18	54365825	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.7169629540038E-5	0.014
18	51892196	G	A	18	54365826	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999717300161342	0.86
18	51892196	G	C	18	54365826	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999943344400226	0.79
18	51892196	G	T	18	54365826	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999683184365519	0.716
18	51892197	T	A	18	54365827	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.372620289720375	0.434
18	51892197	T	C	18	54365827	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.19522170123142	0.404
18	51892197	T	G	18	54365827	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.216113609138873	0.41
18	51892198	G	A	18	54365828	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.1402548697359E-5	0.006
18	51892198	G	C	18	54365828	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.62266057869729E-5	0.012
18	51892198	G	T	18	54365828	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.62746659375856E-5	0.01
18	51892199	A	C	18	54365829	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.58911341984716E-4	0.002
18	51892199	A	G	18	54365829	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.08399764524138E-4	0.004
18	51892199	A	T	18	54365829	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.7035693754504E-4	0.0
18	51898824	T	A	18	54372454	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.98205142169076	0.786
18	51898824	T	C	18	54372454	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00962286347463347	0.18
18	51898824	T	G	18	54372454	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.983539853809745	0.772
18	51898825	T	A	18	54372455	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999653898780836	0.96
18	51898825	T	C	18	54372455	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.973079917708126	0.53
18	51898825	T	G	18	54372455	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999527159152692	0.912
18	51898826	T	A	18	54372456	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.984850920188409	0.792
18	51898826	T	C	18	54372456	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0780870871466905	0.216
18	51898826	T	G	18	54372456	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.995120549899221	0.862
18	51898827	T	A	18	54372457	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.981423542679846	0.808
18	51898827	T	C	18	54372457	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00411851704322038	0.146
18	51898827	T	G	18	54372457	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.96816432075178	0.768
18	51898828	A	C	18	54372458	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.52598131263412E-5	0.0
18	51898828	A	G	18	54372458	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.54292062636856E-4	0.002
18	51898828	A	T	18	54372458	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.65545850520712E-5	0.014
18	51898829	A	C	18	54372459	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00117309921012536	0.026
18	51898829	A	G	18	54372459	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99921173700799	0.936
18	51898829	A	T	18	54372459	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00119604405557933	0.026
18	51898830	C	A	18	54372460	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00180117204474503	0.38
18	51898830	C	G	18	54372460	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999929959060828	0.966
18	51898830	C	T	18	54372460	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.44073600512113E-4	0.026
18	51898831	C	A	18	54372461	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.03409807642891E-4	0.05
18	51898831	C	G	18	54372461	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0142666816394853	0.098
18	51898831	C	T	18	54372461	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.70886629403921E-5	0.0
18	51898832	T	A	18	54372462	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00110892851264818	0.026
18	51898832	T	C	18	54372462	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.38962134473963E-5	0.062
18	51898832	T	G	18	54372462	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00152703664725509	0.116
18	51898833	T	A	18	54372463	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.451194817509822	0.51
18	51898833	T	C	18	54372463	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.36759919267989E-4	0.008
18	51898833	T	G	18	54372463	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.998560815704891	0.806
18	51898834	A	C	18	54372464	y	y	splicing	C18orf54(NM_001288981:exon7:c.1327-2A>C;NM_001288980:exon7:c.1327-2A>C;NM_173529:exon6:c.844-2A>C;NM_001288982:exon5:c.787-2A>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.181-2A>C;ENST00000300091:exon6:c.844-2A>C;ENST00000382911:exon6:c.1327-2A>C)	.	.	0.999990764389106	0.94
18	51898834	A	G	18	54372464	y	y	splicing	C18orf54(NM_001288981:exon7:c.1327-2A>G;NM_001288980:exon7:c.1327-2A>G;NM_173529:exon6:c.844-2A>G;NM_001288982:exon5:c.787-2A>G)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.181-2A>G;ENST00000300091:exon6:c.844-2A>G;ENST00000382911:exon6:c.1327-2A>G)	.	.	0.999990764389106	0.94
18	51898834	A	T	18	54372464	y	y	splicing	C18orf54(NM_001288981:exon7:c.1327-2A>T;NM_001288980:exon7:c.1327-2A>T;NM_173529:exon6:c.844-2A>T;NM_001288982:exon5:c.787-2A>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.181-2A>T;ENST00000300091:exon6:c.844-2A>T;ENST00000382911:exon6:c.1327-2A>T)	.	.	0.999990764389106	0.94
18	51898835	G	A	18	54372465	y	y	splicing	C18orf54(NM_001288981:exon7:c.1327-1G>A;NM_001288980:exon7:c.1327-1G>A;NM_173529:exon6:c.844-1G>A;NM_001288982:exon5:c.787-1G>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.181-1G>A;ENST00000300091:exon6:c.844-1G>A;ENST00000382911:exon6:c.1327-1G>A)	.	.	0.999991412108771	0.936
18	51898835	G	C	18	54372465	y	y	splicing	C18orf54(NM_001288981:exon7:c.1327-1G>C;NM_001288980:exon7:c.1327-1G>C;NM_173529:exon6:c.844-1G>C;NM_001288982:exon5:c.787-1G>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.181-1G>C;ENST00000300091:exon6:c.844-1G>C;ENST00000382911:exon6:c.1327-1G>C)	.	.	0.999991412108771	0.936
18	51898835	G	T	18	54372465	y	y	splicing	C18orf54(NM_001288981:exon7:c.1327-1G>T;NM_001288980:exon7:c.1327-1G>T;NM_173529:exon6:c.844-1G>T;NM_001288982:exon5:c.787-1G>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.181-1G>T;ENST00000300091:exon6:c.844-1G>T;ENST00000382911:exon6:c.1327-1G>T)	.	.	0.999991412108771	0.936
18	51898836	A	C	18	54372466	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.A787C:p.S263R;C18orf54:NM_001288980:exon7:c.A1327C:p.S443R;C18orf54:NM_173529:exon6:c.A844C:p.S282R;C18orf54:NM_001288981:exon7:c.A1327C:p.S443R;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1327C:p.S443R;ENSG00000166845:ENST00000300091:exon6:c.A844C:p.S282R;ENSG00000166845:ENST00000578138:exon4:c.A181C:p.S61R;	0.227312625100576	0.254
18	51898836	A	G	18	54372466	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.A787G:p.S263G;C18orf54:NM_001288980:exon7:c.A1327G:p.S443G;C18orf54:NM_173529:exon6:c.A844G:p.S282G;C18orf54:NM_001288981:exon7:c.A1327G:p.S443G;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1327G:p.S443G;ENSG00000166845:ENST00000300091:exon6:c.A844G:p.S282G;ENSG00000166845:ENST00000578138:exon4:c.A181G:p.S61G;	0.00140728982013038	0.008
18	51898836	A	T	18	54372466	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.A787T:p.S263C;C18orf54:NM_001288980:exon7:c.A1327T:p.S443C;C18orf54:NM_173529:exon6:c.A844T:p.S282C;C18orf54:NM_001288981:exon7:c.A1327T:p.S443C;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1327T:p.S443C;ENSG00000166845:ENST00000300091:exon6:c.A844T:p.S282C;ENSG00000166845:ENST00000578138:exon4:c.A181T:p.S61C;	0.24089985987218	0.246
18	51898837	G	A	18	54372467	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.G788A:p.S263N;C18orf54:NM_001288980:exon7:c.G1328A:p.S443N;C18orf54:NM_173529:exon6:c.G845A:p.S282N;C18orf54:NM_001288981:exon7:c.G1328A:p.S443N;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.G1328A:p.S443N;ENSG00000166845:ENST00000300091:exon6:c.G845A:p.S282N;ENSG00000166845:ENST00000578138:exon4:c.G182A:p.S61N;	1.97825002774419E-4	0.066
18	51898837	G	C	18	54372467	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.G788C:p.S263T;C18orf54:NM_001288980:exon7:c.G1328C:p.S443T;C18orf54:NM_173529:exon6:c.G845C:p.S282T;C18orf54:NM_001288981:exon7:c.G1328C:p.S443T;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.G1328C:p.S443T;ENSG00000166845:ENST00000300091:exon6:c.G845C:p.S282T;ENSG00000166845:ENST00000578138:exon4:c.G182C:p.S61T;	1.57530399898487E-4	0.028
18	51898837	G	T	18	54372467	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.G788T:p.S263I;C18orf54:NM_001288980:exon7:c.G1328T:p.S443I;C18orf54:NM_173529:exon6:c.G845T:p.S282I;C18orf54:NM_001288981:exon7:c.G1328T:p.S443I;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.G1328T:p.S443I;ENSG00000166845:ENST00000300091:exon6:c.G845T:p.S282I;ENSG00000166845:ENST00000578138:exon4:c.G182T:p.S61I;	5.40381810583941E-5	0.006
18	51898965	C	A	18	54372595	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.C916A:p.Q306K;C18orf54:NM_001288980:exon7:c.C1456A:p.Q486K;C18orf54:NM_173529:exon6:c.C973A:p.Q325K;C18orf54:NM_001288981:exon7:c.C1456A:p.Q486K;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.C1456A:p.Q486K;ENSG00000166845:ENST00000300091:exon6:c.C973A:p.Q325K;ENSG00000166845:ENST00000578138:exon4:c.C310A:p.Q104K;	0.00902718731955295	0.118
18	51898965	C	G	18	54372595	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.C916G:p.Q306E;C18orf54:NM_001288980:exon7:c.C1456G:p.Q486E;C18orf54:NM_173529:exon6:c.C973G:p.Q325E;C18orf54:NM_001288981:exon7:c.C1456G:p.Q486E;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.C1456G:p.Q486E;ENSG00000166845:ENST00000300091:exon6:c.C973G:p.Q325E;ENSG00000166845:ENST00000578138:exon4:c.C310G:p.Q104E;	0.0105446049333451	0.142
18	51898965	C	T	18	54372595	y	y	exonic	C18orf54	stopgain SNV	C18orf54:NM_001288982:exon5:c.C916T:p.Q306X;C18orf54:NM_001288980:exon7:c.C1456T:p.Q486X;C18orf54:NM_173529:exon6:c.C973T:p.Q325X;C18orf54:NM_001288981:exon7:c.C1456T:p.Q486X;	exonic	ENSG00000166845	stopgain SNV	ENSG00000166845:ENST00000382911:exon6:c.C1456T:p.Q486X;ENSG00000166845:ENST00000300091:exon6:c.C973T:p.Q325X;ENSG00000166845:ENST00000578138:exon4:c.C310T:p.Q104X;	0.998474492544902	0.922
18	51898966	A	C	18	54372596	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.A917C:p.Q306P;C18orf54:NM_001288980:exon7:c.A1457C:p.Q486P;C18orf54:NM_173529:exon6:c.A974C:p.Q325P;C18orf54:NM_001288981:exon7:c.A1457C:p.Q486P;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1457C:p.Q486P;ENSG00000166845:ENST00000300091:exon6:c.A974C:p.Q325P;ENSG00000166845:ENST00000578138:exon4:c.A311C:p.Q104P;	0.956576213823486	0.798
18	51898966	A	G	18	54372596	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.A917G:p.Q306R;C18orf54:NM_001288980:exon7:c.A1457G:p.Q486R;C18orf54:NM_173529:exon6:c.A974G:p.Q325R;C18orf54:NM_001288981:exon7:c.A1457G:p.Q486R;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1457G:p.Q486R;ENSG00000166845:ENST00000300091:exon6:c.A974G:p.Q325R;ENSG00000166845:ENST00000578138:exon4:c.A311G:p.Q104R;	0.975645102767915	0.626
18	51898966	A	T	18	54372596	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.A917T:p.Q306L;C18orf54:NM_001288980:exon7:c.A1457T:p.Q486L;C18orf54:NM_173529:exon6:c.A974T:p.Q325L;C18orf54:NM_001288981:exon7:c.A1457T:p.Q486L;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1457T:p.Q486L;ENSG00000166845:ENST00000300091:exon6:c.A974T:p.Q325L;ENSG00000166845:ENST00000578138:exon4:c.A311T:p.Q104L;	0.988463801385868	0.85
18	51898967	A	C	18	54372597	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.A918C:p.Q306H;C18orf54:NM_001288980:exon7:c.A1458C:p.Q486H;C18orf54:NM_173529:exon6:c.A975C:p.Q325H;C18orf54:NM_001288981:exon7:c.A1458C:p.Q486H;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1458C:p.Q486H;ENSG00000166845:ENST00000300091:exon6:c.A975C:p.Q325H;ENSG00000166845:ENST00000578138:exon4:c.A312C:p.Q104H;	0.00137837154997322	0.136
18	51898967	A	G	18	54372597	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon5:c.A918G:p.Q306Q;C18orf54:NM_001288980:exon7:c.A1458G:p.Q486Q;C18orf54:NM_173529:exon6:c.A975G:p.Q325Q;C18orf54:NM_001288981:exon7:c.A1458G:p.Q486Q;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1458G:p.Q486Q;ENSG00000166845:ENST00000300091:exon6:c.A975G:p.Q325Q;ENSG00000166845:ENST00000578138:exon4:c.A312G:p.Q104Q;	9.37058297548189E-4	0.11
18	51898967	A	T	18	54372597	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon5:c.A918T:p.Q306H;C18orf54:NM_001288980:exon7:c.A1458T:p.Q486H;C18orf54:NM_173529:exon6:c.A975T:p.Q325H;C18orf54:NM_001288981:exon7:c.A1458T:p.Q486H;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon6:c.A1458T:p.Q486H;ENSG00000166845:ENST00000300091:exon6:c.A975T:p.Q325H;ENSG00000166845:ENST00000578138:exon4:c.A312T:p.Q104H;	0.00450068104158948	0.062
18	51898968	G	A	18	54372598	y	y	splicing	C18orf54(NM_001288981:exon7:c.1458+1G>A;NM_001288980:exon7:c.1458+1G>A;NM_173529:exon6:c.975+1G>A;NM_001288982:exon5:c.918+1G>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.312+1G>A;ENST00000300091:exon6:c.975+1G>A;ENST00000382911:exon6:c.1458+1G>A)	.	.	0.999988247793601	0.928
18	51898968	G	C	18	54372598	y	y	splicing	C18orf54(NM_001288981:exon7:c.1458+1G>C;NM_001288980:exon7:c.1458+1G>C;NM_173529:exon6:c.975+1G>C;NM_001288982:exon5:c.918+1G>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.312+1G>C;ENST00000300091:exon6:c.975+1G>C;ENST00000382911:exon6:c.1458+1G>C)	.	.	0.999988247793601	0.928
18	51898968	G	T	18	54372598	y	y	splicing	C18orf54(NM_001288981:exon7:c.1458+1G>T;NM_001288980:exon7:c.1458+1G>T;NM_173529:exon6:c.975+1G>T;NM_001288982:exon5:c.918+1G>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.312+1G>T;ENST00000300091:exon6:c.975+1G>T;ENST00000382911:exon6:c.1458+1G>T)	.	.	0.999988247793601	0.928
18	51898969	T	A	18	54372599	y	y	splicing	C18orf54(NM_001288981:exon7:c.1458+2T>A;NM_001288980:exon7:c.1458+2T>A;NM_173529:exon6:c.975+2T>A;NM_001288982:exon5:c.918+2T>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.312+2T>A;ENST00000300091:exon6:c.975+2T>A;ENST00000382911:exon6:c.1458+2T>A)	.	.	0.999993519952936	0.928
18	51898969	T	C	18	54372599	y	y	splicing	C18orf54(NM_001288981:exon7:c.1458+2T>C;NM_001288980:exon7:c.1458+2T>C;NM_173529:exon6:c.975+2T>C;NM_001288982:exon5:c.918+2T>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.312+2T>C;ENST00000300091:exon6:c.975+2T>C;ENST00000382911:exon6:c.1458+2T>C)	.	.	0.993596150545159	0.586
18	51898969	T	G	18	54372599	y	y	splicing	C18orf54(NM_001288981:exon7:c.1458+2T>G;NM_001288980:exon7:c.1458+2T>G;NM_173529:exon6:c.975+2T>G;NM_001288982:exon5:c.918+2T>G)	.	.	splicing	ENSG00000166845(ENST00000578138:exon4:c.312+2T>G;ENST00000300091:exon6:c.975+2T>G;ENST00000382911:exon6:c.1458+2T>G)	.	.	0.999993519952936	0.928
18	51898970	A	C	18	54372600	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999885442605364	0.932
18	51898970	A	G	18	54372600	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.908004680172507	0.502
18	51898970	A	T	18	54372600	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999852847884142	0.978
18	51898971	A	C	18	54372601	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.990328124380477	0.772
18	51898971	A	G	18	54372601	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.996727569734927	0.902
18	51898971	A	T	18	54372601	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99824062883489	0.94
18	51898972	G	A	18	54372602	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999934945953947	0.994
18	51898972	G	C	18	54372602	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999486060867193	0.988
18	51898972	G	T	18	54372602	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999972511134408	0.94
18	51898973	C	A	18	54372603	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	3.57653990253249E-4	0.01
18	51898973	C	G	18	54372603	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.40009741925511E-4	0.024
18	51898973	C	T	18	54372603	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.12667114391667E-4	0.01
18	51898974	A	C	18	54372604	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00484529978663121	0.002
18	51898974	A	G	18	54372604	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00147622189706647	0.002
18	51898974	A	T	18	54372604	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0166322468555652	0.078
18	51898975	C	A	18	54372605	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.84034671606015E-5	0.008
18	51898975	C	G	18	54372605	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	6.68256441675417E-5	0.0
18	51898975	C	T	18	54372605	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.06892775457954E-4	0.002
18	51900572	T	A	18	54374202	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.318469569353028	0.406
18	51900572	T	C	18	54374202	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.0094803107292E-4	0.12
18	51900572	T	G	18	54374202	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.569313521476998	0.406
18	51900573	T	A	18	54374203	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.9990624341665	0.916
18	51900573	T	C	18	54374203	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.194409692159688	0.27
18	51900573	T	G	18	54374203	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.994560551060433	0.828
18	51900574	T	A	18	54374204	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999822295096398	0.924
18	51900574	T	C	18	54374204	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.907181898193548	0.4
18	51900574	T	G	18	54374204	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999872535559118	0.906
18	51900575	T	A	18	54374205	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.338705859936296	0.458
18	51900575	T	C	18	54374205	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00254390461430319	0.158
18	51900575	T	G	18	54374205	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.240455689042158	0.484
18	51900576	A	C	18	54374206	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	2.25297988516399E-4	0.01
18	51900576	A	G	18	54374206	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	9.03336991436955E-4	0.026
18	51900576	A	T	18	54374206	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.10951873402588E-4	0.012
18	51900577	A	C	18	54374207	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.01466425393028E-4	0.002
18	51900577	A	G	18	54374207	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99912179199699	0.978
18	51900577	A	T	18	54374207	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00121133553797315	0.024
18	51900578	T	A	18	54374208	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0311034174614432	0.412
18	51900578	T	C	18	54374208	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.58679548165793E-4	0.14
18	51900578	T	G	18	54374208	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999772123497019	0.972
18	51900579	A	C	18	54374209	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.659418899588E-5	0.0
18	51900579	A	G	18	54374209	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.55166141120328E-4	0.018
18	51900579	A	T	18	54374209	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.78880579383347E-5	0.024
18	51900580	A	C	18	54374210	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.07116475898115E-4	0.052
18	51900580	A	G	18	54374210	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.998940916202674	0.852
18	51900580	A	T	18	54374210	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	5.73324573674199E-4	0.034
18	51900581	T	A	18	54374211	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0185958705039767	0.28
18	51900581	T	C	18	54374211	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.59793114841537E-4	0.0
18	51900581	T	G	18	54374211	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.990122980879178	0.742
18	51900582	A	C	18	54374212	y	y	splicing	C18orf54(NM_001288981:exon8:c.1459-2A>C;NM_001288980:exon8:c.1459-2A>C;NM_173529:exon7:c.976-2A>C;NM_001288982:exon6:c.919-2A>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.313-2A>C;ENST00000300091:exon7:c.976-2A>C;ENST00000382911:exon7:c.1459-2A>C)	.	.	0.999939583170295	0.946
18	51900582	A	G	18	54374212	y	y	splicing	C18orf54(NM_001288981:exon8:c.1459-2A>G;NM_001288980:exon8:c.1459-2A>G;NM_173529:exon7:c.976-2A>G;NM_001288982:exon6:c.919-2A>G)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.313-2A>G;ENST00000300091:exon7:c.976-2A>G;ENST00000382911:exon7:c.1459-2A>G)	.	.	0.999939583170295	0.946
18	51900582	A	T	18	54374212	y	y	splicing	C18orf54(NM_001288981:exon8:c.1459-2A>T;NM_001288980:exon8:c.1459-2A>T;NM_173529:exon7:c.976-2A>T;NM_001288982:exon6:c.919-2A>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.313-2A>T;ENST00000300091:exon7:c.976-2A>T;ENST00000382911:exon7:c.1459-2A>T)	.	.	0.999939020951004	0.948
18	51900583	G	A	18	54374213	y	y	splicing	C18orf54(NM_001288981:exon8:c.1459-1G>A;NM_001288980:exon8:c.1459-1G>A;NM_173529:exon7:c.976-1G>A;NM_001288982:exon6:c.919-1G>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.313-1G>A;ENST00000300091:exon7:c.976-1G>A;ENST00000382911:exon7:c.1459-1G>A)	.	.	0.999980428708689	0.946
18	51900583	G	C	18	54374213	y	y	splicing	C18orf54(NM_001288981:exon8:c.1459-1G>C;NM_001288980:exon8:c.1459-1G>C;NM_173529:exon7:c.976-1G>C;NM_001288982:exon6:c.919-1G>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.313-1G>C;ENST00000300091:exon7:c.976-1G>C;ENST00000382911:exon7:c.1459-1G>C)	.	.	0.999949496871441	0.94
18	51900583	G	T	18	54374213	y	y	splicing	C18orf54(NM_001288981:exon8:c.1459-1G>T;NM_001288980:exon8:c.1459-1G>T;NM_173529:exon7:c.976-1G>T;NM_001288982:exon6:c.919-1G>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.313-1G>T;ENST00000300091:exon7:c.976-1G>T;ENST00000382911:exon7:c.1459-1G>T)	.	.	0.999980428708689	0.94
18	51900584	G	A	18	54374214	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.G919A:p.V307I;C18orf54:NM_001288980:exon8:c.G1459A:p.V487I;C18orf54:NM_173529:exon7:c.G976A:p.V326I;C18orf54:NM_001288981:exon8:c.G1459A:p.V487I;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.G1459A:p.V487I;ENSG00000166845:ENST00000300091:exon7:c.G976A:p.V326I;ENSG00000166845:ENST00000578138:exon5:c.G313A:p.V105I;	0.00425487892047869	0.232
18	51900584	G	C	18	54374214	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.G919C:p.V307L;C18orf54:NM_001288980:exon8:c.G1459C:p.V487L;C18orf54:NM_173529:exon7:c.G976C:p.V326L;C18orf54:NM_001288981:exon8:c.G1459C:p.V487L;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.G1459C:p.V487L;ENSG00000166845:ENST00000300091:exon7:c.G976C:p.V326L;ENSG00000166845:ENST00000578138:exon5:c.G313C:p.V105L;	0.0700752530306631	0.496
18	51900584	G	T	18	54374214	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.G919T:p.V307F;C18orf54:NM_001288980:exon8:c.G1459T:p.V487F;C18orf54:NM_173529:exon7:c.G976T:p.V326F;C18orf54:NM_001288981:exon8:c.G1459T:p.V487F;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.G1459T:p.V487F;ENSG00000166845:ENST00000300091:exon7:c.G976T:p.V326F;ENSG00000166845:ENST00000578138:exon5:c.G313T:p.V105F;	0.55121580472099	0.478
18	51900585	T	A	18	54374215	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.T920A:p.V307D;C18orf54:NM_001288980:exon8:c.T1460A:p.V487D;C18orf54:NM_173529:exon7:c.T977A:p.V326D;C18orf54:NM_001288981:exon8:c.T1460A:p.V487D;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.T1460A:p.V487D;ENSG00000166845:ENST00000300091:exon7:c.T977A:p.V326D;ENSG00000166845:ENST00000578138:exon5:c.T314A:p.V105D;	3.33765043522568E-4	0.082
18	51900585	T	C	18	54374215	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.T920C:p.V307A;C18orf54:NM_001288980:exon8:c.T1460C:p.V487A;C18orf54:NM_173529:exon7:c.T977C:p.V326A;C18orf54:NM_001288981:exon8:c.T1460C:p.V487A;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.T1460C:p.V487A;ENSG00000166845:ENST00000300091:exon7:c.T977C:p.V326A;ENSG00000166845:ENST00000578138:exon5:c.T314C:p.V105A;	2.8332883892119E-4	0.06
18	51900585	T	G	18	54374215	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.T920G:p.V307G;C18orf54:NM_001288980:exon8:c.T1460G:p.V487G;C18orf54:NM_173529:exon7:c.T977G:p.V326G;C18orf54:NM_001288981:exon8:c.T1460G:p.V487G;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.T1460G:p.V487G;ENSG00000166845:ENST00000300091:exon7:c.T977G:p.V326G;ENSG00000166845:ENST00000578138:exon5:c.T314G:p.V105G;	3.34052305021456E-4	0.032
18	51900652	G	A	18	54374282	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon6:c.G987A:p.Q329Q;C18orf54:NM_001288980:exon8:c.G1527A:p.Q509Q;C18orf54:NM_173529:exon7:c.G1044A:p.Q348Q;C18orf54:NM_001288981:exon8:c.G1527A:p.Q509Q;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.G1527A:p.Q509Q;ENSG00000166845:ENST00000579594:exon1:c.G33A:p.Q11Q;ENSG00000166845:ENST00000300091:exon7:c.G1044A:p.Q348Q;ENSG00000166845:ENST00000578138:exon5:c.G381A:p.Q127Q;	2.16784007743271E-5	0.0
18	51900652	G	C	18	54374282	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.G987C:p.Q329H;C18orf54:NM_001288980:exon8:c.G1527C:p.Q509H;C18orf54:NM_173529:exon7:c.G1044C:p.Q348H;C18orf54:NM_001288981:exon8:c.G1527C:p.Q509H;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.G1527C:p.Q509H;ENSG00000166845:ENST00000579594:exon1:c.G33C:p.Q11H;ENSG00000166845:ENST00000300091:exon7:c.G1044C:p.Q348H;ENSG00000166845:ENST00000578138:exon5:c.G381C:p.Q127H;	1.36462946634466E-5	0.0
18	51900652	G	T	18	54374282	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.G987T:p.Q329H;C18orf54:NM_001288980:exon8:c.G1527T:p.Q509H;C18orf54:NM_173529:exon7:c.G1044T:p.Q348H;C18orf54:NM_001288981:exon8:c.G1527T:p.Q509H;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.G1527T:p.Q509H;ENSG00000166845:ENST00000579594:exon1:c.G33T:p.Q11H;ENSG00000166845:ENST00000300091:exon7:c.G1044T:p.Q348H;ENSG00000166845:ENST00000578138:exon5:c.G381T:p.Q127H;	9.34432259490921E-4	0.044
18	51900653	A	C	18	54374283	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.A988C:p.K330Q;C18orf54:NM_001288980:exon8:c.A1528C:p.K510Q;C18orf54:NM_173529:exon7:c.A1045C:p.K349Q;C18orf54:NM_001288981:exon8:c.A1528C:p.K510Q;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.A1528C:p.K510Q;ENSG00000166845:ENST00000579594:exon1:c.A34C:p.K12Q;ENSG00000166845:ENST00000300091:exon7:c.A1045C:p.K349Q;ENSG00000166845:ENST00000578138:exon5:c.A382C:p.K128Q;	0.133555711247964	0.5
18	51900653	A	G	18	54374283	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.A988G:p.K330E;C18orf54:NM_001288980:exon8:c.A1528G:p.K510E;C18orf54:NM_173529:exon7:c.A1045G:p.K349E;C18orf54:NM_001288981:exon8:c.A1528G:p.K510E;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.A1528G:p.K510E;ENSG00000166845:ENST00000579594:exon1:c.A34G:p.K12E;ENSG00000166845:ENST00000300091:exon7:c.A1045G:p.K349E;ENSG00000166845:ENST00000578138:exon5:c.A382G:p.K128E;	0.155950346747839	0.21
18	51900653	A	T	18	54374283	y	y	exonic	C18orf54	stopgain SNV	C18orf54:NM_001288982:exon6:c.A988T:p.K330X;C18orf54:NM_001288980:exon8:c.A1528T:p.K510X;C18orf54:NM_173529:exon7:c.A1045T:p.K349X;C18orf54:NM_001288981:exon8:c.A1528T:p.K510X;	exonic	ENSG00000166845	stopgain SNV	ENSG00000166845:ENST00000382911:exon7:c.A1528T:p.K510X;ENSG00000166845:ENST00000579594:exon1:c.A34T:p.K12X;ENSG00000166845:ENST00000300091:exon7:c.A1045T:p.K349X;ENSG00000166845:ENST00000578138:exon5:c.A382T:p.K128X;	0.91255885033672	0.64
18	51900654	A	C	18	54374284	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.A989C:p.K330T;C18orf54:NM_001288980:exon8:c.A1529C:p.K510T;C18orf54:NM_173529:exon7:c.A1046C:p.K349T;C18orf54:NM_001288981:exon8:c.A1529C:p.K510T;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.A1529C:p.K510T;ENSG00000166845:ENST00000579594:exon1:c.A35C:p.K12T;ENSG00000166845:ENST00000300091:exon7:c.A1046C:p.K349T;ENSG00000166845:ENST00000578138:exon5:c.A383C:p.K128T;	0.0148313376715782	0.134
18	51900654	A	G	18	54374284	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.A989G:p.K330R;C18orf54:NM_001288980:exon8:c.A1529G:p.K510R;C18orf54:NM_173529:exon7:c.A1046G:p.K349R;C18orf54:NM_001288981:exon8:c.A1529G:p.K510R;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.A1529G:p.K510R;ENSG00000166845:ENST00000579594:exon1:c.A35G:p.K12R;ENSG00000166845:ENST00000300091:exon7:c.A1046G:p.K349R;ENSG00000166845:ENST00000578138:exon5:c.A383G:p.K128R;	8.59746813231277E-4	0.036
18	51900654	A	T	18	54374284	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon6:c.A989T:p.K330M;C18orf54:NM_001288980:exon8:c.A1529T:p.K510M;C18orf54:NM_173529:exon7:c.A1046T:p.K349M;C18orf54:NM_001288981:exon8:c.A1529T:p.K510M;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon7:c.A1529T:p.K510M;ENSG00000166845:ENST00000579594:exon1:c.A35T:p.K12M;ENSG00000166845:ENST00000300091:exon7:c.A1046T:p.K349M;ENSG00000166845:ENST00000578138:exon5:c.A383T:p.K128M;	0.00338199197453206	0.128
18	51900655	G	A	18	54374285	y	y	splicing	C18orf54(NM_001288981:exon8:c.1529+1G>A;NM_001288980:exon8:c.1529+1G>A;NM_173529:exon7:c.1046+1G>A;NM_001288982:exon6:c.989+1G>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.383+1G>A;ENST00000300091:exon7:c.1046+1G>A;ENST00000382911:exon7:c.1529+1G>A;ENST00000579594:exon1:c.35+1G>A)	.	.	0.99994568797423	0.94
18	51900655	G	C	18	54374285	y	y	splicing	C18orf54(NM_001288981:exon8:c.1529+1G>C;NM_001288980:exon8:c.1529+1G>C;NM_173529:exon7:c.1046+1G>C;NM_001288982:exon6:c.989+1G>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.383+1G>C;ENST00000300091:exon7:c.1046+1G>C;ENST00000382911:exon7:c.1529+1G>C;ENST00000579594:exon1:c.35+1G>C)	.	.	0.999946188727699	0.94
18	51900655	G	T	18	54374285	y	y	splicing	C18orf54(NM_001288981:exon8:c.1529+1G>T;NM_001288980:exon8:c.1529+1G>T;NM_173529:exon7:c.1046+1G>T;NM_001288982:exon6:c.989+1G>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.383+1G>T;ENST00000300091:exon7:c.1046+1G>T;ENST00000382911:exon7:c.1529+1G>T;ENST00000579594:exon1:c.35+1G>T)	.	.	0.99994568797423	0.94
18	51900656	T	A	18	54374286	y	y	splicing	C18orf54(NM_001288981:exon8:c.1529+2T>A;NM_001288980:exon8:c.1529+2T>A;NM_173529:exon7:c.1046+2T>A;NM_001288982:exon6:c.989+2T>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.383+2T>A;ENST00000300091:exon7:c.1046+2T>A;ENST00000382911:exon7:c.1529+2T>A;ENST00000579594:exon1:c.35+2T>A)	.	.	0.99996509239462	0.944
18	51900656	T	C	18	54374286	y	y	splicing	C18orf54(NM_001288981:exon8:c.1529+2T>C;NM_001288980:exon8:c.1529+2T>C;NM_173529:exon7:c.1046+2T>C;NM_001288982:exon6:c.989+2T>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.383+2T>C;ENST00000300091:exon7:c.1046+2T>C;ENST00000382911:exon7:c.1529+2T>C;ENST00000579594:exon1:c.35+2T>C)	.	.	0.961654154758369	0.598
18	51900656	T	G	18	54374286	y	y	splicing	C18orf54(NM_001288981:exon8:c.1529+2T>G;NM_001288980:exon8:c.1529+2T>G;NM_173529:exon7:c.1046+2T>G;NM_001288982:exon6:c.989+2T>G)	.	.	splicing	ENSG00000166845(ENST00000578138:exon5:c.383+2T>G;ENST00000300091:exon7:c.1046+2T>G;ENST00000382911:exon7:c.1529+2T>G;ENST00000579594:exon1:c.35+2T>G)	.	.	0.999965414246739	0.946
18	51900657	A	C	18	54374287	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999625062958336	0.852
18	51900657	A	G	18	54374287	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0407142501356705	0.284
18	51900657	A	T	18	54374287	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.996700027610745	0.832
18	51900658	A	C	18	54374288	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.938862515171956	0.63
18	51900658	A	G	18	54374288	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.98823938615839	0.806
18	51900658	A	T	18	54374288	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.992527610038946	0.758
18	51900659	G	A	18	54374289	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999098465608743	0.9
18	51900659	G	C	18	54374289	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999376586953612	0.942
18	51900659	G	T	18	54374289	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99989970023339	0.886
18	51900660	T	A	18	54374290	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.881516933055812	0.582
18	51900660	T	C	18	54374290	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.644533190654146	0.55
18	51900660	T	G	18	54374290	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.413528859670046	0.552
18	51900661	A	C	18	54374291	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.40099645062051E-4	0.002
18	51900661	A	G	18	54374291	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00111857774782692	0.002
18	51900661	A	T	18	54374291	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00244777623371733	0.012
18	51900662	T	A	18	54374292	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.14750253612336E-4	0.01
18	51900662	T	C	18	54374292	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.10680549741264E-4	0.01
18	51900662	T	G	18	54374292	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	8.10247151050622E-5	0.018
18	51904532	T	A	18	54378162	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.817541406088326	0.8
18	51904532	T	C	18	54378162	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0141580220544686	0.138
18	51904532	T	G	18	54378162	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.727957548004258	0.788
18	51904533	T	A	18	54378163	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999074879226719	0.934
18	51904533	T	C	18	54378163	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.955438400553425	0.586
18	51904533	T	G	18	54378163	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99623165368643	0.826
18	51904534	T	A	18	54378164	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.998187708414213	0.886
18	51904534	T	C	18	54378164	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.369680503385877	0.434
18	51904534	T	G	18	54378164	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.998202724415009	0.858
18	51904535	T	A	18	54378165	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99483247745266	0.76
18	51904535	T	C	18	54378165	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.374308369842025	0.396
18	51904535	T	G	18	54378165	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.997398595608372	0.844
18	51904536	T	A	18	54378166	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0879483338179047	0.386
18	51904536	T	C	18	54378166	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.67467731669614E-4	0.032
18	51904536	T	G	18	54378166	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.641641775588466	0.674
18	51904537	A	C	18	54378167	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.14279897677791E-5	0.006
18	51904537	A	G	18	54378167	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.36707150562206E-4	0.012
18	51904537	A	T	18	54378167	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.93087370354781E-5	0.01
18	51904538	A	C	18	54378168	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.34899341954344E-4	0.012
18	51904538	A	G	18	54378168	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.999587135242604	0.946
18	51904538	A	T	18	54378168	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	4.29249694411025E-4	0.022
18	51904539	T	A	18	54378169	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.99806533567196	0.9
18	51904539	T	C	18	54378169	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00104198810013145	0.062
18	51904539	T	G	18	54378169	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.997833077287486	0.9
18	51904540	G	A	18	54378170	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.14436964939709E-4	0.162
18	51904540	G	C	18	54378170	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	1.39897798578679E-5	0.07
18	51904540	G	T	18	54378170	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	7.45165086799274E-5	0.102
18	51904541	A	C	18	54378171	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.00108239246896543	0.082
18	51904541	A	G	18	54378171	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.210385391559226	0.264
18	51904541	A	T	18	54378171	y	y	intronic	C18orf54	.	.	intronic	ENSG00000166845	.	.	0.0028392275384908	0.118
18	51904542	A	C	18	54378172	y	y	splicing	C18orf54(NM_001288981:exon9:c.1530-2A>C;NM_001288980:exon9:c.1530-2A>C;NM_173529:exon8:c.1047-2A>C;NM_001288982:exon7:c.990-2A>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon6:c.384-2A>C;ENST00000300091:exon8:c.1047-2A>C;ENST00000382911:exon8:c.1530-2A>C;ENST00000579594:exon2:c.36-2A>C)	.	.	0.99979986192302	0.824
18	51904542	A	G	18	54378172	y	y	splicing	C18orf54(NM_001288981:exon9:c.1530-2A>G;NM_001288980:exon9:c.1530-2A>G;NM_173529:exon8:c.1047-2A>G;NM_001288982:exon7:c.990-2A>G)	.	.	splicing	ENSG00000166845(ENST00000578138:exon6:c.384-2A>G;ENST00000300091:exon8:c.1047-2A>G;ENST00000382911:exon8:c.1530-2A>G;ENST00000579594:exon2:c.36-2A>G)	.	.	0.99979986192302	0.824
18	51904542	A	T	18	54378172	y	y	splicing	C18orf54(NM_001288981:exon9:c.1530-2A>T;NM_001288980:exon9:c.1530-2A>T;NM_173529:exon8:c.1047-2A>T;NM_001288982:exon7:c.990-2A>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon6:c.384-2A>T;ENST00000300091:exon8:c.1047-2A>T;ENST00000382911:exon8:c.1530-2A>T;ENST00000579594:exon2:c.36-2A>T)	.	.	0.99979986192302	0.83
18	51904543	G	A	18	54378173	y	y	splicing	C18orf54(NM_001288981:exon9:c.1530-1G>A;NM_001288980:exon9:c.1530-1G>A;NM_173529:exon8:c.1047-1G>A;NM_001288982:exon7:c.990-1G>A)	.	.	splicing	ENSG00000166845(ENST00000578138:exon6:c.384-1G>A;ENST00000300091:exon8:c.1047-1G>A;ENST00000382911:exon8:c.1530-1G>A;ENST00000579594:exon2:c.36-1G>A)	.	.	0.999978187515213	0.878
18	51904543	G	C	18	54378173	y	y	splicing	C18orf54(NM_001288981:exon9:c.1530-1G>C;NM_001288980:exon9:c.1530-1G>C;NM_173529:exon8:c.1047-1G>C;NM_001288982:exon7:c.990-1G>C)	.	.	splicing	ENSG00000166845(ENST00000578138:exon6:c.384-1G>C;ENST00000300091:exon8:c.1047-1G>C;ENST00000382911:exon8:c.1530-1G>C;ENST00000579594:exon2:c.36-1G>C)	.	.	0.999978187515213	0.878
18	51904543	G	T	18	54378173	y	y	splicing	C18orf54(NM_001288981:exon9:c.1530-1G>T;NM_001288980:exon9:c.1530-1G>T;NM_173529:exon8:c.1047-1G>T;NM_001288982:exon7:c.990-1G>T)	.	.	splicing	ENSG00000166845(ENST00000578138:exon6:c.384-1G>T;ENST00000300091:exon8:c.1047-1G>T;ENST00000382911:exon8:c.1530-1G>T;ENST00000579594:exon2:c.36-1G>T)	.	.	0.999978187515213	0.878
18	51904544	G	A	18	54378174	y	y	exonic	C18orf54	synonymous SNV	C18orf54:NM_001288982:exon7:c.G990A:p.K330K;C18orf54:NM_001288980:exon9:c.G1530A:p.K510K;C18orf54:NM_173529:exon8:c.G1047A:p.K349K;C18orf54:NM_001288981:exon9:c.G1530A:p.K510K;	exonic	ENSG00000166845	synonymous SNV	ENSG00000166845:ENST00000382911:exon8:c.G1530A:p.K510K;ENSG00000166845:ENST00000579594:exon2:c.G36A:p.K12K;ENSG00000166845:ENST00000300091:exon8:c.G1047A:p.K349K;ENSG00000166845:ENST00000578138:exon6:c.G384A:p.K128K;	0.661536081102204	0.532
18	51904544	G	C	18	54378174	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon7:c.G990C:p.K330N;C18orf54:NM_001288980:exon9:c.G1530C:p.K510N;C18orf54:NM_173529:exon8:c.G1047C:p.K349N;C18orf54:NM_001288981:exon9:c.G1530C:p.K510N;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon8:c.G1530C:p.K510N;ENSG00000166845:ENST00000579594:exon2:c.G36C:p.K12N;ENSG00000166845:ENST00000300091:exon8:c.G1047C:p.K349N;ENSG00000166845:ENST00000578138:exon6:c.G384C:p.K128N;	0.127958604316028	0.546
18	51904544	G	T	18	54378174	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon7:c.G990T:p.K330N;C18orf54:NM_001288980:exon9:c.G1530T:p.K510N;C18orf54:NM_173529:exon8:c.G1047T:p.K349N;C18orf54:NM_001288981:exon9:c.G1530T:p.K510N;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon8:c.G1530T:p.K510N;ENSG00000166845:ENST00000579594:exon2:c.G36T:p.K12N;ENSG00000166845:ENST00000300091:exon8:c.G1047T:p.K349N;ENSG00000166845:ENST00000578138:exon6:c.G384T:p.K128N;	0.91327126079026	0.848
18	51904545	G	A	18	54378175	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon7:c.G991A:p.A331T;C18orf54:NM_001288980:exon9:c.G1531A:p.A511T;C18orf54:NM_173529:exon8:c.G1048A:p.A350T;C18orf54:NM_001288981:exon9:c.G1531A:p.A511T;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon8:c.G1531A:p.A511T;ENSG00000166845:ENST00000579594:exon2:c.G37A:p.A13T;ENSG00000166845:ENST00000300091:exon8:c.G1048A:p.A350T;ENSG00000166845:ENST00000578138:exon6:c.G385A:p.A129T;	0.0174553907718357	0.262
18	51904545	G	C	18	54378175	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon7:c.G991C:p.A331P;C18orf54:NM_001288980:exon9:c.G1531C:p.A511P;C18orf54:NM_173529:exon8:c.G1048C:p.A350P;C18orf54:NM_001288981:exon9:c.G1531C:p.A511P;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon8:c.G1531C:p.A511P;ENSG00000166845:ENST00000579594:exon2:c.G37C:p.A13P;ENSG00000166845:ENST00000300091:exon8:c.G1048C:p.A350P;ENSG00000166845:ENST00000578138:exon6:c.G385C:p.A129P;	0.002371785910361	0.182
18	51904545	G	T	18	54378175	y	y	exonic	C18orf54	nonsynonymous SNV	C18orf54:NM_001288982:exon7:c.G991T:p.A331S;C18orf54:NM_001288980:exon9:c.G1531T:p.A511S;C18orf54:NM_173529:exon8:c.G1048T:p.A350S;C18orf54:NM_001288981:exon9:c.G1531T:p.A511S;	exonic	ENSG00000166845	nonsynonymous SNV	ENSG00000166845:ENST00000382911:exon8:c.G1531T:p.A511S;ENSG00000166845:ENST00000579594:exon2:c.G37T:p.A13S;ENSG00000166845:ENST00000300091:exon8:c.G1048T:p.A350S;ENSG00000166845:ENST00000578138:exon6:c.G385T:p.A129S;	0.00795144233020404	0.176
18	51904694	A	C	18	54378324	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	8.89371736124219E-4	0.0
18	51904694	A	G	18	54378324	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	8.89371736124219E-4	0.0
18	51904694	A	T	18	54378324	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.91335385279169E-4	0.0
18	51904695	A	C	18	54378325	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.33596820440618E-5	0.004
18	51904695	A	G	18	54378325	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.33596820440618E-5	0.004
18	51904695	A	T	18	54378325	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.33596820440618E-5	0.004
18	51904696	A	C	18	54378326	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.25211152755068E-5	0.0
18	51904696	A	G	18	54378326	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.25211152755068E-5	0.0
18	51904696	A	T	18	54378326	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.25211152755068E-5	0.0
18	51904697	G	A	18	54378327	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon2:c.188+1G>A)	.	.	5.08375779173333E-5	0.0
18	51904697	G	C	18	54378327	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon2:c.188+1G>C)	.	.	5.08375779173333E-5	0.004
18	51904697	G	T	18	54378327	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon2:c.188+1G>T)	.	.	5.08375779173333E-5	0.01
18	51904698	T	A	18	54378328	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon2:c.188+2T>A)	.	.	0.00127265193793032	0.002
18	51904698	T	C	18	54378328	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon2:c.188+2T>C)	.	.	0.00122913998718321	0.002
18	51904698	T	G	18	54378328	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon2:c.188+2T>G)	.	.	0.00122913998718321	0.002
18	51904699	A	C	18	54378329	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.15267776820636E-5	0.0
18	51904699	A	G	18	54378329	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.15267776820636E-5	0.0
18	51904699	A	T	18	54378329	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	8.46054017672216E-5	0.0
18	51904700	A	C	18	54378330	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00316434947706365	0.024
18	51904700	A	G	18	54378330	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00316434947706365	0.024
18	51904700	A	T	18	54378330	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.0045802311785222	0.024
18	51904701	A	C	18	54378331	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.04278140930798E-5	0.004
18	51904701	A	G	18	54378331	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.04278140930798E-5	0.004
18	51904701	A	T	18	54378331	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.04278140930798E-5	0.004
18	51904702	T	A	18	54378332	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.78801534976706E-5	0.0
18	51904702	T	C	18	54378332	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.33132576485227E-5	0.0
18	51904702	T	G	18	54378332	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.33132576485227E-5	0.0
18	51904703	A	C	18	54378333	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	6.27477746119029E-5	0.0
18	51904703	A	G	18	54378333	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	6.27477746119029E-5	0.0
18	51904703	A	T	18	54378333	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	6.27477746119029E-5	0.0
18	51904704	T	A	18	54378334	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	8.55472960422104E-5	0.0
18	51904704	T	C	18	54378334	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.1877777554816E-5	0.0
18	51904704	T	G	18	54378334	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.2417393529521E-5	0.0
18	51907242	T	A	18	54380872	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.7519575763743E-5	0.066
18	51907242	T	C	18	54380872	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.7519575763743E-5	0.066
18	51907242	T	G	18	54380872	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.7519575763743E-5	0.066
18	51907243	C	A	18	54380873	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.01113710158293E-5	0.0
18	51907243	C	G	18	54380873	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.01113710158293E-5	0.0
18	51907243	C	T	18	54380873	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.01113710158293E-5	0.0
18	51907244	T	A	18	54380874	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.29827230923027E-5	0.008
18	51907244	T	C	18	54380874	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.13530008480819E-5	0.016
18	51907244	T	G	18	54380874	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.29827230923027E-5	0.016
18	51907245	C	A	18	54380875	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.83488359282596E-5	0.03
18	51907245	C	G	18	54380875	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.83488359282596E-5	0.012
18	51907245	C	T	18	54380875	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.83488359282596E-5	0.082
18	51907246	T	A	18	54380876	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.13530008480819E-5	0.022
18	51907246	T	C	18	54380876	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.90391717707203E-5	0.022
18	51907246	T	G	18	54380876	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.13530008480819E-5	0.022
18	51907247	G	A	18	54380877	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.37996697393411E-5	0.002
18	51907247	G	C	18	54380877	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.37996697393411E-5	0.002
18	51907247	G	T	18	54380877	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.37996697393411E-5	0.002
18	51907248	T	A	18	54380878	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.84145836239614E-5	0.0
18	51907248	T	C	18	54380878	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.84145836239614E-5	0.0
18	51907248	T	G	18	54380878	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.84145836239614E-5	0.0
18	51907249	T	A	18	54380879	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.89861551796331E-5	0.004
18	51907249	T	C	18	54380879	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.89861551796331E-5	0.0
18	51907249	T	G	18	54380879	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.89861551796331E-5	0.0
18	51907250	T	A	18	54380880	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.10732655506153E-5	0.134
18	51907250	T	C	18	54380880	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.10732655506153E-5	0.134
18	51907250	T	G	18	54380880	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.10732655506153E-5	0.134
18	51907251	C	A	18	54380881	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.17880732468024E-5	0.042
18	51907251	C	G	18	54380881	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.95166702787334E-5	0.126
18	51907251	C	T	18	54380881	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.59191692324503E-5	0.042
18	51907252	A	C	18	54380882	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon3:c.189-2A>C)	.	.	8.12429493142035E-6	0.0
18	51907252	A	G	18	54380882	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon3:c.189-2A>G)	.	.	8.12429493142035E-6	0.0
18	51907252	A	T	18	54380882	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon3:c.189-2A>T)	.	.	8.12429493142035E-6	0.0
18	51907253	G	A	18	54380883	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon3:c.189-1G>A)	.	.	1.82309039396057E-5	0.012
18	51907253	G	C	18	54380883	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon3:c.189-1G>C)	.	.	1.82309039396057E-5	0.012
18	51907253	G	T	18	54380883	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon3:c.189-1G>T)	.	.	1.82309039396057E-5	0.012
18	51907254	A	C	18	54380884	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.42901961887926E-5	0.066
18	51907254	A	G	18	54380884	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.42901961887926E-5	0.066
18	51907254	A	T	18	54380884	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.42901961887926E-5	0.056
18	51907255	A	C	18	54380885	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.70117075893386E-4	0.036
18	51907255	A	G	18	54380885	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.70117075893386E-4	0.036
18	51907255	A	T	18	54380885	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.70117075893386E-4	0.036
18	51908034	A	C	18	54381664	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.25211152755068E-5	0.0
18	51908034	A	G	18	54381664	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.25211152755068E-5	0.0
18	51908034	A	T	18	54381664	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.54864014224924E-5	0.0
18	51908035	T	A	18	54381665	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.18728774971945E-5	0.036
18	51908035	T	C	18	54381665	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.18728774971945E-5	0.038
18	51908035	T	G	18	54381665	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.18728774971945E-5	0.038
18	51908036	T	A	18	54381666	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	6.09332237519757E-5	0.036
18	51908036	T	C	18	54381666	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	6.09332237519757E-5	0.038
18	51908036	T	G	18	54381666	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	6.09332237519757E-5	0.038
18	51908037	T	A	18	54381667	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00160068091988522	0.016
18	51908037	T	C	18	54381667	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00166922796589821	0.014
18	51908037	T	G	18	54381667	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00166922796589821	0.014
18	51908038	C	A	18	54381668	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.73401366462724E-4	0.006
18	51908038	C	G	18	54381668	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.05918261028706E-4	0.0
18	51908038	C	T	18	54381668	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.73401366462724E-4	0.004
18	51908039	T	A	18	54381669	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.75024050490554E-4	0.006
18	51908039	T	C	18	54381669	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.92924058340623E-4	0.006
18	51908039	T	G	18	54381669	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.92924058340623E-4	0.006
18	51908040	T	A	18	54381670	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.15628710579927E-4	0.006
18	51908040	T	C	18	54381670	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.56952079861446E-4	0.006
18	51908040	T	G	18	54381670	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.56952079861446E-4	0.006
18	51908041	T	A	18	54381671	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.05309614883202E-4	0.0
18	51908041	T	C	18	54381671	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.16080636402324E-4	0.0
18	51908041	T	G	18	54381671	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.16080636402324E-4	0.0
18	51908042	A	C	18	54381672	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00324723878874257	0.024
18	51908042	A	G	18	54381672	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00324723878874257	0.022
18	51908042	A	T	18	54381672	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00441569569744403	0.054
18	51908043	A	C	18	54381673	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.40455273620508E-4	0.006
18	51908043	A	G	18	54381673	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.40455273620508E-4	0.006
18	51908043	A	T	18	54381673	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.17503189594235E-4	0.008
18	51908044	A	C	18	54381674	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.234-2A>C)	.	.	4.01754660595877E-5	0.032
18	51908044	A	G	18	54381674	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.234-2A>G)	.	.	4.01754660595877E-5	0.034
18	51908044	A	T	18	54381674	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.234-2A>T)	.	.	4.01754660595877E-5	0.034
18	51908045	G	A	18	54381675	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.234-1G>A)	.	.	0.0249681078020574	0.132
18	51908045	G	C	18	54381675	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.234-1G>C)	.	.	0.0126550339677199	0.1
18	51908045	G	T	18	54381675	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.234-1G>T)	.	.	0.0249681078020574	0.136
18	51908046	C	A	18	54381676	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	9.97503651702036E-4	0.0
18	51908046	C	G	18	54381676	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00112105296231836	0.0
18	51908046	C	T	18	54381676	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	9.97503651702036E-4	0.0
18	51908047	T	A	18	54381677	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00441569569744403	0.092
18	51908047	T	C	18	54381677	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00441569569744403	0.034
18	51908047	T	G	18	54381677	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	0.00441569569744403	0.034
18	51908097	C	A	18	54381727	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.56567834969361E-5	0.0
18	51908097	C	G	18	54381727	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.56567834969361E-5	0.0
18	51908097	C	T	18	54381727	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	2.56567834969361E-5	0.0
18	51908098	T	A	18	54381728	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.67272766448078E-5	0.0
18	51908098	T	C	18	54381728	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.91125889811943E-5	0.01
18	51908098	T	G	18	54381728	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.91125889811943E-5	0.01
18	51908099	G	A	18	54381729	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.82685551969961E-5	0.028
18	51908099	G	C	18	54381729	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.04661109736481E-4	0.122
18	51908099	G	T	18	54381729	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	7.82685551969961E-5	0.086
18	51908100	G	A	18	54381730	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.287+1G>A)	.	.	6.89210916601576E-5	0.0
18	51908100	G	C	18	54381730	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.287+1G>C)	.	.	6.89210916601576E-5	0.0
18	51908100	G	T	18	54381730	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.287+1G>T)	.	.	6.89210916601576E-5	0.0
18	51908101	T	A	18	54381731	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.287+2T>A)	.	.	3.39529611572298E-5	0.004
18	51908101	T	C	18	54381731	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.287+2T>C)	.	.	7.44782069694124E-5	0.004
18	51908101	T	G	18	54381731	n	y	UTR3	C18orf54	.	.	splicing	ENSG00000166845(ENST00000579594:exon4:c.287+2T>G)	.	.	7.44782069694124E-5	0.004
18	51908102	A	C	18	54381732	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.09774573448081E-5	0.004
18	51908102	A	G	18	54381732	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.09774573448081E-5	0.004
18	51908102	A	T	18	54381732	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.09774573448081E-5	0.006
18	51908103	A	C	18	54381733	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.47039489069415E-5	0.0
18	51908103	A	G	18	54381733	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.47039489069415E-5	0.0
18	51908103	A	T	18	54381733	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	3.59209916280968E-5	0.004
18	51908104	G	A	18	54381734	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.71811775086873E-5	0.012
18	51908104	G	C	18	54381734	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.71811775086873E-5	0.002
18	51908104	G	T	18	54381734	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	1.71811775086873E-5	0.008
18	51908105	T	A	18	54381735	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	4.09774573448081E-5	0.004
18	51908105	T	C	18	54381735	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.47959532904733E-5	0.068
18	51908105	T	G	18	54381735	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	5.47959532904733E-5	0.13
18	51908106	T	A	18	54381736	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	8.52773432237745E-4	0.018
18	51908106	T	C	18	54381736	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	8.52773432237745E-4	0.014
18	51908106	T	G	18	54381736	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	8.52773432237745E-4	0.014
18	51908107	G	A	18	54381737	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	9.81666394918856E-4	0.112
18	51908107	G	C	18	54381737	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	9.81666394918856E-4	0.036
18	51908107	G	T	18	54381737	n	y	UTR3	C18orf54	.	.	UTR3	ENSG00000166845	.	.	9.81666394918856E-4	0.048
18	52258568	C	A	18	54591337	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon1:c.C133A:p.P45T;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.C142A:p.P48T;ENSG00000178690:ENST00000321600:exon1:c.C133A:p.P45T;	3.88248581338604E-5	0.066
18	52258568	C	G	18	54591337	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon1:c.C133G:p.P45A;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.C142G:p.P48A;ENSG00000178690:ENST00000321600:exon1:c.C133G:p.P45A;	5.31945592370016E-5	0.076
18	52258568	C	T	18	54591337	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon1:c.C133T:p.P45S;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.C142T:p.P48S;ENSG00000178690:ENST00000321600:exon1:c.C133T:p.P45S;	1.6029441072568E-4	0.212
18	52258569	C	A	18	54591338	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon1:c.C134A:p.P45Q;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.C143A:p.P48Q;ENSG00000178690:ENST00000321600:exon1:c.C134A:p.P45Q;	3.65421700129933E-5	0.054
18	52258569	C	G	18	54591338	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon1:c.C134G:p.P45R;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.C143G:p.P48R;ENSG00000178690:ENST00000321600:exon1:c.C134G:p.P45R;	1.51810114022823E-4	0.01
18	52258569	C	T	18	54591338	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon1:c.C134T:p.P45L;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.C143T:p.P48L;ENSG00000178690:ENST00000321600:exon1:c.C134T:p.P45L;	4.90199067411427E-5	0.022
18	52258570	G	A	18	54591339	y	y	exonic	DYNAP	synonymous SNV	DYNAP:NM_173629:exon1:c.G135A:p.P45P;	exonic	ENSG00000178690	synonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.G144A:p.P48P;ENSG00000178690:ENST00000321600:exon1:c.G135A:p.P45P;	0.143352096625396	0.396
18	52258570	G	C	18	54591339	y	y	exonic	DYNAP	synonymous SNV	DYNAP:NM_173629:exon1:c.G135C:p.P45P;	exonic	ENSG00000178690	synonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.G144C:p.P48P;ENSG00000178690:ENST00000321600:exon1:c.G135C:p.P45P;	0.457913963845495	0.35
18	52258570	G	T	18	54591339	y	y	exonic	DYNAP	synonymous SNV	DYNAP:NM_173629:exon1:c.G135T:p.P45P;	exonic	ENSG00000178690	synonymous SNV	ENSG00000178690:ENST00000585973:exon2:c.G144T:p.P48P;ENSG00000178690:ENST00000321600:exon1:c.G135T:p.P45P;	0.314111731957375	0.42
18	52258571	G	A	18	54591340	y	y	splicing	DYNAP(NM_173629:exon1:c.135+1G>A)	.	.	splicing	ENSG00000178690(ENST00000585973:exon2:c.144+1G>A;ENST00000321600:exon1:c.135+1G>A)	.	.	0.999977614472875	0.766
18	52258571	G	C	18	54591340	y	y	splicing	DYNAP(NM_173629:exon1:c.135+1G>C)	.	.	splicing	ENSG00000178690(ENST00000585973:exon2:c.144+1G>C;ENST00000321600:exon1:c.135+1G>C)	.	.	0.999987958061382	0.77
18	52258571	G	T	18	54591340	y	y	splicing	DYNAP(NM_173629:exon1:c.135+1G>T)	.	.	splicing	ENSG00000178690(ENST00000585973:exon2:c.144+1G>T;ENST00000321600:exon1:c.135+1G>T)	.	.	0.999982312740861	0.77
18	52258572	T	A	18	54591341	y	y	splicing	DYNAP(NM_173629:exon1:c.135+2T>A)	.	.	splicing	ENSG00000178690(ENST00000585973:exon2:c.144+2T>A;ENST00000321600:exon1:c.135+2T>A)	.	.	0.999980255680118	0.738
18	52258572	T	C	18	54591341	y	y	splicing	DYNAP(NM_173629:exon1:c.135+2T>C)	.	.	splicing	ENSG00000178690(ENST00000585973:exon2:c.144+2T>C;ENST00000321600:exon1:c.135+2T>C)	.	.	0.999217238080921	0.676
18	52258572	T	G	18	54591341	y	y	splicing	DYNAP(NM_173629:exon1:c.135+2T>G)	.	.	splicing	ENSG00000178690(ENST00000585973:exon2:c.144+2T>G;ENST00000321600:exon1:c.135+2T>G)	.	.	0.999984399620937	0.75
18	52258573	G	A	18	54591342	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	6.76468182231519E-4	0.038
18	52258573	G	C	18	54591342	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.946646886189007	0.57
18	52258573	G	T	18	54591342	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.957889430186416	0.544
18	52258574	A	C	18	54591343	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.737207930210999	0.452
18	52258574	A	G	18	54591343	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.829323983051519	0.626
18	52258574	A	T	18	54591343	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.969662342805679	0.718
18	52258575	G	A	18	54591344	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.997782613447658	0.938
18	52258575	G	C	18	54591344	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.999286076217918	0.87
18	52258575	G	T	18	54591344	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.999768629847968	0.882
18	52258576	T	A	18	54591345	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.846484003859197	0.412
18	52258576	T	C	18	54591345	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.708503757616767	0.472
18	52258576	T	G	18	54591345	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.232621296525526	0.346
18	52258577	G	A	18	54591346	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	8.87945186568028E-6	0.004
18	52258577	G	C	18	54591346	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	8.87945186568028E-6	0.004
18	52258577	G	T	18	54591346	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.5092452581904E-5	0.0
18	52258578	T	A	18	54591347	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	8.64905445396362E-5	0.0
18	52258578	T	C	18	54591347	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	4.7586829694842E-5	0.0
18	52258578	T	G	18	54591347	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	5.49222253318775E-5	0.0
18	52262158	C	A	18	54594927	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	6.48314383066014E-4	0.082
18	52262158	C	G	18	54594927	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	3.9245987760741E-4	0.062
18	52262158	C	T	18	54594927	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.19094428743686E-5	0.006
18	52262159	T	A	18	54594928	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.99689503287176	0.838
18	52262159	T	C	18	54594928	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	9.3512010138707E-4	0.062
18	52262159	T	G	18	54594928	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00290171277416887	0.178
18	52262160	G	A	18	54594929	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	7.80727480174769E-5	0.002
18	52262160	G	C	18	54594929	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.68702104098183E-5	0.0
18	52262160	G	T	18	54594929	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.32816777852467E-5	0.002
18	52262161	C	A	18	54594930	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.17476619256436E-4	0.048
18	52262161	C	G	18	54594930	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.77971896686399E-4	0.066
18	52262161	C	T	18	54594930	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	6.16748205452221E-6	0.006
18	52262162	C	A	18	54594931	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00174520849812752	0.164
18	52262162	C	G	18	54594931	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00187379608630846	0.064
18	52262162	C	T	18	54594931	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.07421647659428E-4	0.002
18	52262163	T	A	18	54594932	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00206287101915038	0.078
18	52262163	T	C	18	54594932	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.84184357904705E-4	0.058
18	52262163	T	G	18	54594932	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00243103348541012	0.056
18	52262164	T	A	18	54594933	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	6.70817944204918E-4	0.12
18	52262164	T	C	18	54594933	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.66867368097359E-4	0.032
18	52262164	T	G	18	54594933	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	7.82198006060149E-4	0.148
18	52262165	T	A	18	54594934	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.994468511841964	0.94
18	52262165	T	C	18	54594934	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00132337086049863	0.058
18	52262165	T	G	18	54594934	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.0445053979320306	0.396
18	52262166	G	A	18	54594935	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.48930612126088E-5	0.0
18	52262166	G	C	18	54594935	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	3.02720240104576E-6	0.004
18	52262166	G	T	18	54594935	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.9700425957983E-5	0.0
18	52262167	T	A	18	54594936	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00585729182074379	0.222
18	52262167	T	C	18	54594936	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.85021357443647E-4	0.106
18	52262167	T	G	18	54594936	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.994989698180663	0.702
18	52262168	A	C	18	54594937	y	y	splicing	DYNAP(NM_173629:exon2:c.136-2A>C)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.136-2A>C)	.	.	0.999962958601995	0.804
18	52262168	A	G	18	54594937	y	y	splicing	DYNAP(NM_173629:exon2:c.136-2A>G)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.136-2A>G)	.	.	0.999962958601995	0.804
18	52262168	A	T	18	54594937	y	y	splicing	DYNAP(NM_173629:exon2:c.136-2A>T)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.136-2A>T)	.	.	0.999962958601995	0.836
18	52262169	G	A	18	54594938	y	y	splicing	DYNAP(NM_173629:exon2:c.136-1G>A)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.136-1G>A)	.	.	0.999958003653399	0.826
18	52262169	G	C	18	54594938	y	y	splicing	DYNAP(NM_173629:exon2:c.136-1G>C)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.136-1G>C)	.	.	0.999977614472875	0.814
18	52262169	G	T	18	54594938	y	y	splicing	DYNAP(NM_173629:exon2:c.136-1G>T)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.136-1G>T)	.	.	0.999958003653399	0.82
18	52262170	C	A	18	54594939	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.C136A:p.P46T;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.C136A:p.P46T;	2.28393944067164E-5	0.0
18	52262170	C	G	18	54594939	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.C136G:p.P46A;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.C136G:p.P46A;	7.05335204577725E-5	0.056
18	52262170	C	T	18	54594939	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.C136T:p.P46S;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.C136T:p.P46S;	9.3443921148423E-4	0.212
18	52262171	C	A	18	54594940	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.C137A:p.P46Q;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.C137A:p.P46Q;	0.0156914030174559	0.214
18	52262171	C	G	18	54594940	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.C137G:p.P46R;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.C137G:p.P46R;	0.00427747475312186	0.104
18	52262171	C	T	18	54594940	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.C137T:p.P46L;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.C137T:p.P46L;	0.0786352792311023	0.284
18	52262332	C	A	18	54595101	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.C298A:p.Q100K;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.C298A:p.Q100K;	0.00443951403377165	0.138
18	52262332	C	G	18	54595101	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.C298G:p.Q100E;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.C298G:p.Q100E;	0.00713492731248256	0.12
18	52262332	C	T	18	54595101	y	y	exonic	DYNAP	stopgain SNV	DYNAP:NM_173629:exon2:c.C298T:p.Q100X;	exonic	ENSG00000178690	stopgain SNV	ENSG00000178690:ENST00000321600:exon2:c.C298T:p.Q100X;	0.889453509218752	0.694
18	52262333	A	C	18	54595102	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.A299C:p.Q100P;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.A299C:p.Q100P;	0.988445345869844	0.926
18	52262333	A	G	18	54595102	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.A299G:p.Q100R;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.A299G:p.Q100R;	0.998701071819708	0.994
18	52262333	A	T	18	54595102	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.A299T:p.Q100L;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.A299T:p.Q100L;	0.998049156132185	0.986
18	52262334	G	A	18	54595103	y	y	exonic	DYNAP	synonymous SNV	DYNAP:NM_173629:exon2:c.G300A:p.Q100Q;	exonic	ENSG00000178690	synonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.G300A:p.Q100Q;	0.999977077437506	0.902
18	52262334	G	C	18	54595103	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.G300C:p.Q100H;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.G300C:p.Q100H;	0.999986252535228	0.996
18	52262334	G	T	18	54595103	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon2:c.G300T:p.Q100H;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000321600:exon2:c.G300T:p.Q100H;	0.999952746685255	0.986
18	52262335	G	A	18	54595104	y	y	splicing	DYNAP(NM_173629:exon2:c.300+1G>A)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.300+1G>A)	.	.	0.999987205282477	0.764
18	52262335	G	C	18	54595104	y	y	splicing	DYNAP(NM_173629:exon2:c.300+1G>C)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.300+1G>C)	.	.	0.999991289042512	0.776
18	52262335	G	T	18	54595104	y	y	splicing	DYNAP(NM_173629:exon2:c.300+1G>T)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.300+1G>T)	.	.	0.999987205282477	0.774
18	52262336	T	A	18	54595105	y	y	splicing	DYNAP(NM_173629:exon2:c.300+2T>A)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.300+2T>A)	.	.	0.999980255680118	0.742
18	52262336	T	C	18	54595105	y	y	splicing	DYNAP(NM_173629:exon2:c.300+2T>C)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.300+2T>C)	.	.	0.916223517375126	0.512
18	52262336	T	G	18	54595105	y	y	splicing	DYNAP(NM_173629:exon2:c.300+2T>G)	.	.	splicing	ENSG00000178690(ENST00000321600:exon2:c.300+2T>G)	.	.	0.999989378869813	0.752
18	52262337	A	C	18	54595106	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.998916857778307	0.83
18	52262337	A	G	18	54595106	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.959905294106799	0.524
18	52262337	A	T	18	54595106	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.999446813619697	0.842
18	52262338	A	C	18	54595107	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.0124465058860194	0.296
18	52262338	A	G	18	54595107	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.279479367871195	0.468
18	52262338	A	T	18	54595107	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.0834777899489643	0.328
18	52262339	T	A	18	54595108	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	3.32046244591887E-5	0.006
18	52262339	T	C	18	54595108	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.18611370053195E-5	0.002
18	52262339	T	G	18	54595108	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	3.36419181703737E-5	0.004
18	52262340	G	A	18	54595109	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	7.89996990740887E-5	0.004
18	52262340	G	C	18	54595109	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	7.24523546461384E-4	0.04
18	52262340	G	T	18	54595109	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.95563486325845E-5	0.0
18	52262341	T	A	18	54595110	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.78389654127837E-5	0.0
18	52262341	T	C	18	54595110	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.78389654127837E-5	0.0
18	52262341	T	G	18	54595110	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.26501254653793E-5	0.0
18	52262342	G	A	18	54595111	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.38419143041662E-5	0.002
18	52262342	G	C	18	54595111	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	5.45742506135173E-5	0.042
18	52262342	G	T	18	54595111	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.93359067446576E-5	0.0
18	52265032	A	C	18	54597801	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.95048459408849E-5	0.0
18	52265032	A	G	18	54597801	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.99733936595326E-5	0.026
18	52265032	A	T	18	54597801	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.06481237244302E-5	0.0
18	52265033	T	A	18	54597802	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.689277790611784	0.506
18	52265033	T	C	18	54597802	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00259792284778095	0.236
18	52265033	T	G	18	54597802	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.999769409186277	0.958
18	52265034	A	C	18	54597803	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.49368619234028E-4	0.014
18	52265034	A	G	18	54597803	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	8.2050814450521E-4	0.024
18	52265034	A	T	18	54597803	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.23884661043687E-4	0.012
18	52265035	C	A	18	54597804	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00103437662996884	0.094
18	52265035	C	G	18	54597804	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.999234423375727	0.924
18	52265035	C	T	18	54597804	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.39607463466741E-5	0.0
18	52265036	A	C	18	54597805	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.35020097372625E-5	0.002
18	52265036	A	G	18	54597805	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	5.62466297025083E-5	0.002
18	52265036	A	T	18	54597805	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.51333873349873E-5	0.02
18	52265037	T	A	18	54597806	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.995937379029402	0.916
18	52265037	T	C	18	54597806	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	7.02251145618487E-4	0.032
18	52265037	T	G	18	54597806	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.997054699845223	0.92
18	52265038	G	A	18	54597807	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	5.90928470982044E-5	0.002
18	52265038	G	C	18	54597807	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	4.23376980759573E-5	0.054
18	52265038	G	T	18	54597807	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.06481237244302E-5	0.0
18	52265039	C	A	18	54597808	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00141107848103177	0.224
18	52265039	C	G	18	54597808	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.00304094271642676	0.238
18	52265039	C	T	18	54597808	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.61287543828875E-4	0.016
18	52265040	T	A	18	54597809	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.01330857774099E-4	0.002
18	52265040	T	C	18	54597809	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	5.75528760367335E-5	0.044
18	52265040	T	G	18	54597809	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	2.64363920995552E-4	0.13
18	52265041	T	A	18	54597810	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.242755617459087	0.408
18	52265041	T	C	18	54597810	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	1.25041374508521E-4	0.05
18	52265041	T	G	18	54597810	y	y	intronic	DYNAP	.	.	intronic	ENSG00000178690	.	.	0.994054488477446	0.656
18	52265042	A	C	18	54597811	y	y	splicing	DYNAP(NM_173629:exon3:c.301-2A>C)	.	.	splicing	ENSG00000178690(ENST00000585973:exon3:c.145-2A>C;ENST00000321600:exon3:c.301-2A>C)	.	.	0.999968585001639	0.878
18	52265042	A	G	18	54597811	y	y	splicing	DYNAP(NM_173629:exon3:c.301-2A>G)	.	.	splicing	ENSG00000178690(ENST00000585973:exon3:c.145-2A>G;ENST00000321600:exon3:c.301-2A>G)	.	.	0.999968585001639	0.88
18	52265042	A	T	18	54597811	y	y	splicing	DYNAP(NM_173629:exon3:c.301-2A>T)	.	.	splicing	ENSG00000178690(ENST00000585973:exon3:c.145-2A>T;ENST00000321600:exon3:c.301-2A>T)	.	.	0.99996764000787	0.916
18	52265043	G	A	18	54597812	y	y	splicing	DYNAP(NM_173629:exon3:c.301-1G>A)	.	.	splicing	ENSG00000178690(ENST00000585973:exon3:c.145-1G>A;ENST00000321600:exon3:c.301-1G>A)	.	.	0.999960164215612	0.92
18	52265043	G	C	18	54597812	y	y	splicing	DYNAP(NM_173629:exon3:c.301-1G>C)	.	.	splicing	ENSG00000178690(ENST00000585973:exon3:c.145-1G>C;ENST00000321600:exon3:c.301-1G>C)	.	.	0.999961327513015	0.9
18	52265043	G	T	18	54597812	y	y	splicing	DYNAP(NM_173629:exon3:c.301-1G>T)	.	.	splicing	ENSG00000178690(ENST00000585973:exon3:c.145-1G>T;ENST00000321600:exon3:c.301-1G>T)	.	.	0.999962322234123	0.918
18	52265044	G	A	18	54597813	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon3:c.G301A:p.V101I;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon3:c.G145A:p.V49I;ENSG00000178690:ENST00000321600:exon3:c.G301A:p.V101I;	0.00348270362847419	0.142
18	52265044	G	C	18	54597813	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon3:c.G301C:p.V101L;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon3:c.G145C:p.V49L;ENSG00000178690:ENST00000321600:exon3:c.G301C:p.V101L;	0.471942275222419	0.442
18	52265044	G	T	18	54597813	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon3:c.G301T:p.V101L;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon3:c.G145T:p.V49L;ENSG00000178690:ENST00000321600:exon3:c.G301T:p.V101L;	0.845129828648975	0.474
18	52265045	T	A	18	54597814	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon3:c.T302A:p.V101E;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon3:c.T146A:p.V49E;ENSG00000178690:ENST00000321600:exon3:c.T302A:p.V101E;	0.0212692296701402	0.204
18	52265045	T	C	18	54597814	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon3:c.T302C:p.V101A;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon3:c.T146C:p.V49A;ENSG00000178690:ENST00000321600:exon3:c.T302C:p.V101A;	3.23551071272397E-4	0.144
18	52265045	T	G	18	54597814	y	y	exonic	DYNAP	nonsynonymous SNV	DYNAP:NM_173629:exon3:c.T302G:p.V101G;	exonic	ENSG00000178690	nonsynonymous SNV	ENSG00000178690:ENST00000585973:exon3:c.T146G:p.V49G;ENSG00000178690:ENST00000321600:exon3:c.T302G:p.V101G;	0.00165144514038345	0.08
18	52495929	C	A	18	54828698	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.904156756123483	0.74
18	52495929	C	G	18	54828698	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.96325982723663	0.614
18	52495929	C	T	18	54828698	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.996082619773301	0.662
18	52495930	T	A	18	54828699	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.573013138106022	0.434
18	52495930	T	C	18	54828699	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.865298290629681	0.692
18	52495930	T	G	18	54828699	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.932909562785383	0.808
18	52495931	G	A	18	54828700	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.999946204024505	0.982
18	52495931	G	C	18	54828700	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.999975722294777	0.944
18	52495931	G	T	18	54828700	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.999813870559693	0.978
18	52495932	G	A	18	54828701	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999986675681007	0.934
18	52495932	G	C	18	54828701	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999986675681007	0.932
18	52495932	G	T	18	54828701	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999986675681007	0.934
18	52495933	T	A	18	54828702	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999989917668626	0.926
18	52495933	T	C	18	54828702	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999927254940125	0.866
18	52495933	T	G	18	54828702	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999989917668626	0.926
18	52495934	G	A	18	54828703	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.572434971897508	0.454
18	52495934	G	C	18	54828703	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999529760154238	0.952
18	52495934	G	T	18	54828703	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.99964134110151	0.928
18	52495935	A	C	18	54828704	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999241825612936	0.916
18	52495935	A	G	18	54828704	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999219660010794	0.952
18	52495935	A	T	18	54828704	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999219660010794	0.908
18	52495936	G	A	18	54828705	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.99996974222429	0.902
18	52495936	G	C	18	54828705	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999958222327331	0.954
18	52495936	G	T	18	54828705	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.99996974222429	0.84
18	52495937	T	A	18	54828706	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.997129381755198	0.858
18	52495937	T	C	18	54828706	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.997831181914003	0.816
18	52495937	T	G	18	54828706	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.995730254465145	0.756
18	52495938	T	A	18	54828707	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	5.75019870365725E-5	0.02
18	52495938	T	C	18	54828707	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	4.91218532116335E-5	0.018
18	52495938	T	G	18	54828707	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	4.82743592473044E-5	0.018
18	52495939	G	A	18	54828708	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.989138310378938	0.806
18	52495939	G	C	18	54828708	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.986341631860106	0.764
18	52495939	G	T	18	54828708	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.989138310378938	0.798
18	52544786	T	A	18	54877555	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00234474303753564	0.166
18	52544786	T	C	18	54877555	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.09916479273949E-4	0.014
18	52544786	T	G	18	54877555	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0023530959760006	0.152
18	52544787	C	A	18	54877556	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	2.26507391068334E-4	0.018
18	52544787	C	G	18	54877556	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	9.0469393079473E-5	0.0
18	52544787	C	T	18	54877556	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	2.0333351452307E-5	0.0
18	52544788	T	A	18	54877557	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00425471874017701	0.234
18	52544788	T	C	18	54877557	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.20904091173545E-4	0.028
18	52544788	T	G	18	54877557	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00493933500530929	0.226
18	52544789	C	A	18	54877558	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00305607478977057	0.104
18	52544789	C	G	18	54877558	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00301167791079728	0.078
18	52544789	C	T	18	54877558	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	3.85553164639636E-5	0.004
18	52544790	C	A	18	54877559	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00286228251465115	0.052
18	52544790	C	G	18	54877559	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	5.47481855244438E-4	0.038
18	52544790	C	T	18	54877559	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	4.59124056761392E-5	0.004
18	52544791	T	A	18	54877560	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00446188179072034	0.048
18	52544791	T	C	18	54877560	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	5.2226545557874E-5	0.002
18	52544791	T	G	18	54877560	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00263168159224918	0.078
18	52544792	A	C	18	54877561	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.64641399688721E-5	0.004
18	52544792	A	G	18	54877561	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	3.37906380736557E-5	0.0
18	52544792	A	T	18	54877561	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.65384719650273E-5	0.0
18	52544793	T	A	18	54877562	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00114503973084839	0.12
18	52544793	T	C	18	54877562	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	9.24030737404986E-5	0.008
18	52544793	T	G	18	54877562	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.994589387094851	0.896
18	52544794	A	C	18	54877563	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.94676596455644E-5	0.002
18	52544794	A	G	18	54877563	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	5.70118082382981E-5	0.0
18	52544794	A	T	18	54877563	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	5.92229620680902E-5	0.0
18	52544795	C	A	18	54877564	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.981903692178185	0.67
18	52544795	C	G	18	54877564	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999939082154596	0.952
18	52544795	C	T	18	54877564	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00226567748438817	0.02
18	52544796	A	C	18	54877565	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999946188727699	0.912
18	52544796	A	G	18	54877565	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999946188727699	0.924
18	52544796	A	T	18	54877565	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.999946188727699	0.946
18	52544797	G	A	18	54877566	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.99995545544995	0.934
18	52544797	G	C	18	54877566	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.99995545544995	0.944
18	52544797	G	T	18	54877566	y	y	splicing	RAB27B	.	.	splicing	ENSG00000041353	.	.	0.99995545544995	0.944
18	52544798	A	C	18	54877567	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.00101525346341312	0.104
18	52544798	A	G	18	54877567	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	9.70880071462798E-5	0.028
18	52544798	A	T	18	54877567	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.0030686619404586	0.142
18	52544799	C	A	18	54877568	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.00182181148007027	0.068
18	52544799	C	G	18	54877568	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	0.00127846335621667	0.074
18	52544799	C	T	18	54877568	y	y	UTR5	RAB27B	.	.	UTR5	ENSG00000041353	.	.	8.45740924290484E-4	0.044
18	52544967	G	A	18	54877736	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon2:c.G151A:p.V51M;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.G151A:p.V51M;ENSG00000041353:ENST00000586570:exon3:c.G151A:p.V51M;	0.926447637408592	0.736
18	52544967	G	C	18	54877736	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon2:c.G151C:p.V51L;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.G151C:p.V51L;ENSG00000041353:ENST00000586570:exon3:c.G151C:p.V51L;	0.925447307453367	0.638
18	52544967	G	T	18	54877736	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon2:c.G151T:p.V51L;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.G151T:p.V51L;ENSG00000041353:ENST00000586570:exon3:c.G151T:p.V51L;	0.987065818423832	0.826
18	52544968	T	A	18	54877737	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon2:c.T152A:p.V51E;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.T152A:p.V51E;ENSG00000041353:ENST00000586570:exon3:c.T152A:p.V51E;	0.635608774452099	0.538
18	52544968	T	C	18	54877737	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon2:c.T152C:p.V51A;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.T152C:p.V51A;ENSG00000041353:ENST00000586570:exon3:c.T152C:p.V51A;	0.945453735965504	0.864
18	52544968	T	G	18	54877737	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon2:c.T152G:p.V51G;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.T152G:p.V51G;ENSG00000041353:ENST00000586570:exon3:c.T152G:p.V51G;	0.954242278404021	0.928
18	52544969	G	A	18	54877738	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon2:c.G153A:p.V51V;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.G153A:p.V51V;ENSG00000041353:ENST00000586570:exon3:c.G153A:p.V51V;	0.999920537628639	0.984
18	52544969	G	C	18	54877738	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon2:c.G153C:p.V51V;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.G153C:p.V51V;ENSG00000041353:ENST00000586570:exon3:c.G153C:p.V51V;	0.99995004030814	0.926
18	52544969	G	T	18	54877738	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon2:c.G153T:p.V51V;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon2:c.G153T:p.V51V;ENSG00000041353:ENST00000586570:exon3:c.G153T:p.V51V;	0.999809371983808	0.976
18	52544970	G	A	18	54877739	y	y	splicing	RAB27B(NM_004163:exon2:c.153+1G>A)	.	.	splicing	ENSG00000041353(ENST00000586570:exon3:c.153+1G>A;ENST00000262094:exon2:c.153+1G>A)	.	.	0.999985532734767	0.93
18	52544970	G	C	18	54877739	y	y	splicing	RAB27B(NM_004163:exon2:c.153+1G>C)	.	.	splicing	ENSG00000041353(ENST00000586570:exon3:c.153+1G>C;ENST00000262094:exon2:c.153+1G>C)	.	.	0.999985532734767	0.93
18	52544970	G	T	18	54877739	y	y	splicing	RAB27B(NM_004163:exon2:c.153+1G>T)	.	.	splicing	ENSG00000041353(ENST00000586570:exon3:c.153+1G>T;ENST00000262094:exon2:c.153+1G>T)	.	.	0.999985532734767	0.93
18	52544971	T	A	18	54877740	y	y	splicing	RAB27B(NM_004163:exon2:c.153+2T>A)	.	.	splicing	ENSG00000041353(ENST00000586570:exon3:c.153+2T>A;ENST00000262094:exon2:c.153+2T>A)	.	.	0.999988247793601	0.92
18	52544971	T	C	18	54877740	y	y	splicing	RAB27B(NM_004163:exon2:c.153+2T>C)	.	.	splicing	ENSG00000041353(ENST00000586570:exon3:c.153+2T>C;ENST00000262094:exon2:c.153+2T>C)	.	.	0.999929727175276	0.866
18	52544971	T	G	18	54877740	y	y	splicing	RAB27B(NM_004163:exon2:c.153+2T>G)	.	.	splicing	ENSG00000041353(ENST00000586570:exon3:c.153+2T>G;ENST00000262094:exon2:c.153+2T>G)	.	.	0.999988247793601	0.92
18	52544972	G	A	18	54877741	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	2.20561911767088E-5	0.0
18	52544972	G	C	18	54877741	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0805761216624576	0.308
18	52544972	G	T	18	54877741	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0298306745668496	0.236
18	52544973	A	C	18	54877742	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.991589438999462	0.866
18	52544973	A	G	18	54877742	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.994324101400933	0.836
18	52544973	A	T	18	54877742	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.995259611193278	0.906
18	52544974	G	A	18	54877743	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999874686887994	0.968
18	52544974	G	C	18	54877743	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999924205522154	0.962
18	52544974	G	T	18	54877743	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999950955532549	0.978
18	52544975	T	A	18	54877744	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.997517215775528	0.868
18	52544975	T	C	18	54877744	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.971337357936374	0.828
18	52544975	T	G	18	54877744	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.986533531790049	0.77
18	52544976	T	A	18	54877745	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00124244801968867	0.02
18	52544976	T	C	18	54877745	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00124244801968867	0.056
18	52544976	T	G	18	54877745	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00124244801968867	0.016
18	52544977	T	A	18	54877746	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	2.87028764785716E-5	0.0
18	52544977	T	C	18	54877746	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	9.18980700330643E-5	0.002
18	52544977	T	G	18	54877746	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	3.72782111499651E-5	0.0
18	52546588	T	A	18	54879357	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.935825200661536	0.682
18	52546588	T	C	18	54879357	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	4.16185077243253E-5	0.0
18	52546588	T	G	18	54879357	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00280098117627959	0.116
18	52546589	G	A	18	54879358	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	6.86699926309381E-5	0.0
18	52546589	G	C	18	54879358	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.26848964498332E-5	0.0
18	52546589	G	T	18	54879358	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.65047354028333E-5	0.0
18	52546590	T	A	18	54879359	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.786257930970789	0.562
18	52546590	T	C	18	54879359	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.012272555970105	0.22
18	52546590	T	G	18	54879359	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.776688939515843	0.572
18	52546591	A	C	18	54879360	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	2.93514809634167E-5	0.132
18	52546591	A	G	18	54879360	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	3.06682893941667E-5	0.166
18	52546591	A	T	18	54879360	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.87893413646195E-5	0.022
18	52546592	T	A	18	54879361	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0299522064325944	0.104
18	52546592	T	C	18	54879361	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	3.14923311979912E-5	0.004
18	52546592	T	G	18	54879361	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.994622375039305	0.964
18	52546593	C	A	18	54879362	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.03435764265855E-4	0.012
18	52546593	C	G	18	54879362	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.44623826059345E-4	0.02
18	52546593	C	T	18	54879362	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.96554663758282E-5	0.004
18	52546594	T	A	18	54879363	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.902625169924678	0.544
18	52546594	T	C	18	54879363	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00726564481421772	0.144
18	52546594	T	G	18	54879363	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.922094802660663	0.55
18	52546595	T	A	18	54879364	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.947065637944042	0.754
18	52546595	T	C	18	54879364	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.151330981326813	0.316
18	52546595	T	G	18	54879364	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.992288118708962	0.704
18	52546596	T	A	18	54879365	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	9.33143974590918E-4	0.036
18	52546596	T	C	18	54879365	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	3.42211290867814E-4	0.03
18	52546596	T	G	18	54879365	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	3.58066713625153E-4	0.026
18	52546597	C	A	18	54879366	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.842146741264389	0.66
18	52546597	C	G	18	54879366	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999711856339296	0.958
18	52546597	C	T	18	54879366	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.130354835654483	0.166
18	52546598	A	C	18	54879367	y	y	splicing	RAB27B(NM_004163:exon3:c.154-2A>C)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.154-2A>C;ENST00000262094:exon3:c.154-2A>C)	.	.	0.999988247793601	0.932
18	52546598	A	G	18	54879367	y	y	splicing	RAB27B(NM_004163:exon3:c.154-2A>G)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.154-2A>G;ENST00000262094:exon3:c.154-2A>G)	.	.	0.999988247793601	0.932
18	52546598	A	T	18	54879367	y	y	splicing	RAB27B(NM_004163:exon3:c.154-2A>T)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.154-2A>T;ENST00000262094:exon3:c.154-2A>T)	.	.	0.999988247793601	0.932
18	52546599	G	A	18	54879368	y	y	splicing	RAB27B(NM_004163:exon3:c.154-1G>A)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.154-1G>A;ENST00000262094:exon3:c.154-1G>A)	.	.	0.999990361384395	0.938
18	52546599	G	C	18	54879368	y	y	splicing	RAB27B(NM_004163:exon3:c.154-1G>C)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.154-1G>C;ENST00000262094:exon3:c.154-1G>C)	.	.	0.999990361384395	0.938
18	52546599	G	T	18	54879368	y	y	splicing	RAB27B(NM_004163:exon3:c.154-1G>T)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.154-1G>T;ENST00000262094:exon3:c.154-1G>T)	.	.	0.999990361384395	0.938
18	52546600	G	A	18	54879369	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.G154A:p.V52I;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G154A:p.V52I;ENSG00000041353:ENST00000586570:exon4:c.G154A:p.V52I;	0.541552159700319	0.534
18	52546600	G	C	18	54879369	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.G154C:p.V52L;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G154C:p.V52L;ENSG00000041353:ENST00000586570:exon4:c.G154C:p.V52L;	0.973425145555379	0.6
18	52546600	G	T	18	54879369	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.G154T:p.V52F;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G154T:p.V52F;ENSG00000041353:ENST00000586570:exon4:c.G154T:p.V52F;	0.958469606463798	0.546
18	52546601	T	A	18	54879370	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.T155A:p.V52D;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.T155A:p.V52D;ENSG00000041353:ENST00000586570:exon4:c.T155A:p.V52D;	0.00433110397010297	0.028
18	52546601	T	C	18	54879370	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.T155C:p.V52A;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.T155C:p.V52A;ENSG00000041353:ENST00000586570:exon4:c.T155C:p.V52A;	0.00338925133495259	0.086
18	52546601	T	G	18	54879370	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.T155G:p.V52G;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.T155G:p.V52G;ENSG00000041353:ENST00000586570:exon4:c.T155G:p.V52G;	0.00680304727375246	0.068
18	52546683	G	A	18	54879452	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon3:c.G237A:p.E79E;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G237A:p.E79E;ENSG00000041353:ENST00000586570:exon4:c.G237A:p.E79E;	8.50645431001956E-5	0.014
18	52546683	G	C	18	54879452	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.G237C:p.E79D;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G237C:p.E79D;ENSG00000041353:ENST00000586570:exon4:c.G237C:p.E79D;	0.00181600615465984	0.092
18	52546683	G	T	18	54879452	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.G237T:p.E79D;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G237T:p.E79D;ENSG00000041353:ENST00000586570:exon4:c.G237T:p.E79D;	0.0140365082244902	0.134
18	52546684	C	A	18	54879453	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon3:c.C238A:p.R80R;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.C238A:p.R80R;ENSG00000041353:ENST00000586570:exon4:c.C238A:p.R80R;	4.76154755324931E-4	0.156
18	52546684	C	G	18	54879453	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.C238G:p.R80G;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.C238G:p.R80G;ENSG00000041353:ENST00000586570:exon4:c.C238G:p.R80G;	0.0623431186746162	0.39
18	52546684	C	T	18	54879453	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.C238T:p.R80W;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.C238T:p.R80W;ENSG00000041353:ENST00000586570:exon4:c.C238T:p.R80W;	0.0269294141704557	0.434
18	52546685	G	A	18	54879454	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.G239A:p.R80Q;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G239A:p.R80Q;ENSG00000041353:ENST00000586570:exon4:c.G239A:p.R80Q;	0.999995897917182	1.0
18	52546685	G	C	18	54879454	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.G239C:p.R80P;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G239C:p.R80P;ENSG00000041353:ENST00000586570:exon4:c.G239C:p.R80P;	0.999997925665413	1.0
18	52546685	G	T	18	54879454	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon3:c.G239T:p.R80L;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon3:c.G239T:p.R80L;ENSG00000041353:ENST00000586570:exon4:c.G239T:p.R80L;	0.999988631589442	1.0
18	52546686	G	A	18	54879455	y	y	splicing	RAB27B(NM_004163:exon3:c.239+1G>A)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.239+1G>A;ENST00000262094:exon3:c.239+1G>A)	.	.	0.999992425382947	0.94
18	52546686	G	C	18	54879455	y	y	splicing	RAB27B(NM_004163:exon3:c.239+1G>C)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.239+1G>C;ENST00000262094:exon3:c.239+1G>C)	.	.	0.999992425382947	0.94
18	52546686	G	T	18	54879455	y	y	splicing	RAB27B(NM_004163:exon3:c.239+1G>T)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.239+1G>T;ENST00000262094:exon3:c.239+1G>T)	.	.	0.999992425382947	0.94
18	52546687	T	A	18	54879456	y	y	splicing	RAB27B(NM_004163:exon3:c.239+2T>A)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.239+2T>A;ENST00000262094:exon3:c.239+2T>A)	.	.	0.999990764389106	0.94
18	52546687	T	C	18	54879456	y	y	splicing	RAB27B(NM_004163:exon3:c.239+2T>C)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.239+2T>C;ENST00000262094:exon3:c.239+2T>C)	.	.	0.999933373721707	0.89
18	52546687	T	G	18	54879456	y	y	splicing	RAB27B(NM_004163:exon3:c.239+2T>G)	.	.	splicing	ENSG00000041353(ENST00000586570:exon4:c.239+2T>G;ENST00000262094:exon3:c.239+2T>G)	.	.	0.999990764389106	0.94
18	52546688	A	C	18	54879457	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	0.999947433598741	0.988
18	52546688	A	G	18	54879457	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	0.99982794093984	0.986
18	52546688	A	T	18	54879457	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	0.999941437534171	0.984
18	52546689	A	C	18	54879458	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	0.999872655778317	0.924
18	52546689	A	G	18	54879458	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	0.999853252163113	0.952
18	52546689	A	T	18	54879458	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	0.999585039012248	0.928
18	52546690	T	A	18	54879459	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	1.77580650945401E-4	0.02
18	52546690	T	C	18	54879459	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	6.803753906333E-5	0.006
18	52546690	T	G	18	54879459	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	1.34277867619382E-4	0.044
18	52546691	A	C	18	54879460	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	0.00599944880522219	0.106
18	52546691	A	G	18	54879460	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	5.46281964425776E-5	0.074
18	52546691	A	T	18	54879460	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	5.03056321427535E-5	0.01
18	52546692	G	A	18	54879461	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	1.67493677548718E-4	0.004
18	52546692	G	C	18	54879461	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	2.74202951893374E-4	0.01
18	52546692	G	T	18	54879461	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	0.00318634644701299	0.176
18	52546693	T	A	18	54879462	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	1.02363114561346E-4	0.002
18	52546693	T	C	18	54879462	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	5.68338740944507E-4	0.02
18	52546693	T	G	18	54879462	y	y	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267311	.	.	5.53102150768564E-4	0.004
18	52551552	T	A	18	54884321	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00328650866564911	0.076
18	52551552	T	C	18	54884321	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	3.13316531631973E-5	0.0
18	52551552	T	G	18	54884321	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0053868141547407	0.088
18	52551553	T	A	18	54884322	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.641848454175072	0.464
18	52551553	T	C	18	54884322	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0210755394927625	0.202
18	52551553	T	G	18	54884322	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.40116318746856	0.502
18	52551554	T	A	18	54884323	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0087754653481382	0.332
18	52551554	T	C	18	54884323	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	2.99967212630965E-4	0.01
18	52551554	T	G	18	54884323	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0440250449207451	0.4
18	52551555	C	A	18	54884324	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00151506399115059	0.08
18	52551555	C	G	18	54884324	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	9.17646066273094E-5	0.01
18	52551555	C	T	18	54884324	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.55955572115086E-5	0.0
18	52551556	C	A	18	54884325	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	4.47150270678041E-4	0.112
18	52551556	C	G	18	54884325	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.45575065689432E-4	0.092
18	52551556	C	T	18	54884325	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.7989310577411E-5	0.006
18	52551557	T	A	18	54884326	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0375077072991509	0.204
18	52551557	T	C	18	54884326	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.8815126557691E-4	0.002
18	52551557	T	G	18	54884326	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0369825065387401	0.198
18	52551558	T	A	18	54884327	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.992691798995971	0.944
18	52551558	T	C	18	54884327	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	5.32497787896127E-5	0.0
18	52551558	T	G	18	54884327	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.00339725737199152	0.076
18	52551559	G	A	18	54884328	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.703791053963498	0.544
18	52551559	G	C	18	54884328	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	2.25795993162507E-4	0.006
18	52551559	G	T	18	54884328	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.34414401140609E-4	0.004
18	52551560	G	A	18	54884329	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	4.05087556861974E-4	0.004
18	52551560	G	C	18	54884329	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	4.85013911983221E-4	0.018
18	52551560	G	T	18	54884329	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.0017970426453049	0.012
18	52551561	C	A	18	54884330	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999102086807409	0.802
18	52551561	C	G	18	54884330	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999903564609878	0.886
18	52551561	C	T	18	54884330	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.441524246108749	0.126
18	52551562	A	C	18	54884331	y	y	splicing	RAB27B(NM_004163:exon4:c.240-2A>C)	.	.	splicing	ENSG00000041353(ENST00000586570:exon5:c.240-2A>C;ENST00000262094:exon4:c.240-2A>C)	.	.	0.999988247793601	0.932
18	52551562	A	G	18	54884331	y	y	splicing	RAB27B(NM_004163:exon4:c.240-2A>G)	.	.	splicing	ENSG00000041353(ENST00000586570:exon5:c.240-2A>G;ENST00000262094:exon4:c.240-2A>G)	.	.	0.999988247793601	0.932
18	52551562	A	T	18	54884331	y	y	splicing	RAB27B(NM_004163:exon4:c.240-2A>T)	.	.	splicing	ENSG00000041353(ENST00000586570:exon5:c.240-2A>T;ENST00000262094:exon4:c.240-2A>T)	.	.	0.999988247793601	0.932
18	52551563	G	A	18	54884332	y	y	splicing	RAB27B(NM_004163:exon4:c.240-1G>A)	.	.	splicing	ENSG00000041353(ENST00000586570:exon5:c.240-1G>A;ENST00000262094:exon4:c.240-1G>A)	.	.	0.999990361384395	0.938
18	52551563	G	C	18	54884332	y	y	splicing	RAB27B(NM_004163:exon4:c.240-1G>C)	.	.	splicing	ENSG00000041353(ENST00000586570:exon5:c.240-1G>C;ENST00000262094:exon4:c.240-1G>C)	.	.	0.999990361384395	0.938
18	52551563	G	T	18	54884332	y	y	splicing	RAB27B(NM_004163:exon4:c.240-1G>T)	.	.	splicing	ENSG00000041353(ENST00000586570:exon5:c.240-1G>T;ENST00000262094:exon4:c.240-1G>T)	.	.	0.999990361384395	0.938
18	52551564	G	A	18	54884333	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon4:c.G240A:p.R80R;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.G240A:p.R80R;ENSG00000041353:ENST00000586570:exon5:c.G240A:p.R80R;	0.0102553775795291	0.256
18	52551564	G	C	18	54884333	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon4:c.G240C:p.R80R;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.G240C:p.R80R;ENSG00000041353:ENST00000586570:exon5:c.G240C:p.R80R;	0.11568678764469	0.442
18	52551564	G	T	18	54884333	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon4:c.G240T:p.R80R;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.G240T:p.R80R;ENSG00000041353:ENST00000586570:exon5:c.G240T:p.R80R;	0.848818784718208	0.644
18	52551565	T	A	18	54884334	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.T241A:p.F81I;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.T241A:p.F81I;ENSG00000041353:ENST00000586570:exon5:c.T241A:p.F81I;	0.887486679220336	0.65
18	52551565	T	C	18	54884334	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.T241C:p.F81L;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.T241C:p.F81L;ENSG00000041353:ENST00000586570:exon5:c.T241C:p.F81L;	0.680453078980211	0.688
18	52551565	T	G	18	54884334	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.T241G:p.F81V;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.T241G:p.F81V;ENSG00000041353:ENST00000586570:exon5:c.T241G:p.F81V;	0.837864470379219	0.534
18	52551665	T	A	18	54884434	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.T341A:p.M114K;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.T341A:p.M114K;	0.746024077595885	0.692
18	52551665	T	C	18	54884434	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.T341C:p.M114T;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.T341C:p.M114T;	0.676482151470728	0.684
18	52551665	T	G	18	54884434	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.T341G:p.M114R;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.T341G:p.M114R;	0.778887750958637	0.76
18	52551666	G	A	18	54884435	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.G342A:p.M114I;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.G342A:p.M114I;	0.00147464412996601	0.066
18	52551666	G	C	18	54884435	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.G342C:p.M114I;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.G342C:p.M114I;	0.00106641377721321	0.014
18	52551666	G	T	18	54884435	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.G342T:p.M114I;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.G342T:p.M114I;	0.00486026521781604	0.094
18	52551667	A	C	18	54884436	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.A343C:p.S115R;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.A343C:p.S115R;	0.863690679986392	0.79
18	52551667	A	G	18	54884436	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.A343G:p.S115G;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.A343G:p.S115G;	0.481574074271875	0.362
18	52551667	A	T	18	54884436	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon4:c.A343T:p.S115C;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon4:c.A343T:p.S115C;	0.918429011818382	0.768
18	52551668	G	A	18	54884437	y	y	splicing	RAB27B(NM_004163:exon4:c.343+1G>A)	.	.	splicing	ENSG00000041353(ENST00000262094:exon4:c.343+1G>A;ENST00000592334:exon1:c.80+1G>A)	.	.	0.999990361384395	0.938
18	52551668	G	C	18	54884437	y	y	splicing	RAB27B(NM_004163:exon4:c.343+1G>C)	.	.	splicing	ENSG00000041353(ENST00000262094:exon4:c.343+1G>C;ENST00000592334:exon1:c.80+1G>C)	.	.	0.999990361384395	0.938
18	52551668	G	T	18	54884437	y	y	splicing	RAB27B(NM_004163:exon4:c.343+1G>T)	.	.	splicing	ENSG00000041353(ENST00000262094:exon4:c.343+1G>T;ENST00000592334:exon1:c.80+1G>T)	.	.	0.999990361384395	0.938
18	52551669	T	A	18	54884438	y	y	splicing	RAB27B(NM_004163:exon4:c.343+2T>A)	.	.	splicing	ENSG00000041353(ENST00000262094:exon4:c.343+2T>A;ENST00000592334:exon1:c.80+2T>A)	.	.	0.999988247793601	0.93
18	52551669	T	C	18	54884438	y	y	splicing	RAB27B(NM_004163:exon4:c.343+2T>C)	.	.	splicing	ENSG00000041353(ENST00000262094:exon4:c.343+2T>C;ENST00000592334:exon1:c.80+2T>C)	.	.	0.998634858532458	0.846
18	52551669	T	G	18	54884438	y	y	splicing	RAB27B(NM_004163:exon4:c.343+2T>G)	.	.	splicing	ENSG00000041353(ENST00000262094:exon4:c.343+2T>G;ENST00000592334:exon1:c.80+2T>G)	.	.	0.999988247793601	0.93
18	52551670	A	C	18	54884439	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999802459061815	0.964
18	52551670	A	G	18	54884439	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.993511960617834	0.76
18	52551670	A	T	18	54884439	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999772660169507	0.97
18	52551671	A	C	18	54884440	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.998859948109845	0.832
18	52551671	A	G	18	54884440	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.997046514676224	0.916
18	52551671	A	T	18	54884440	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.992692375286063	0.894
18	52551672	G	A	18	54884441	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999976008337081	1.0
18	52551672	G	C	18	54884441	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999976008337081	0.992
18	52551672	G	T	18	54884441	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.99996655793034	0.988
18	52551673	T	A	18	54884442	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.998635754659181	0.846
18	52551673	T	C	18	54884442	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.999030474675709	0.952
18	52551673	T	G	18	54884442	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	0.998862559231179	0.926
18	52551674	G	A	18	54884443	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.6336754069256E-4	0.008
18	52551674	G	C	18	54884443	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	9.84375428810738E-5	0.006
18	52551674	G	T	18	54884443	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	4.2944312366089E-4	0.002
18	52551675	G	A	18	54884444	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	6.33141600191487E-5	0.0
18	52551675	G	C	18	54884444	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	6.33141600191487E-5	0.0
18	52551675	G	T	18	54884444	y	y	intronic	RAB27B	.	.	intronic	ENSG00000041353	.	.	1.63386902974576E-4	0.002
18	52555214	T	A	18	54887983	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.943020493231482	0.574
18	52555214	T	C	18	54887983	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.108132765375375	0.352
18	52555214	T	G	18	54887983	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.91993787440549	0.564
18	52555215	T	A	18	54887984	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.960523086388205	0.754
18	52555215	T	C	18	54887984	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.475401203323781	0.336
18	52555215	T	G	18	54887984	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.924674947590248	0.636
18	52555216	T	A	18	54887985	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.114385624350588	0.276
18	52555216	T	C	18	54887985	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00102144482962913	0.04
18	52555216	T	G	18	54887985	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0662006407142856	0.214
18	52555217	C	A	18	54887986	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.957835468156953	0.57
18	52555217	C	G	18	54887986	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.869119130218771	0.504
18	52555217	C	T	18	54887986	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.566063033701852	0.444
18	52555218	T	A	18	54887987	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0567259212008114	0.18
18	52555218	T	C	18	54887987	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00142478588574804	0.04
18	52555218	T	G	18	54887987	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0108567693852764	0.202
18	52555219	T	A	18	54887988	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00341744982995098	0.086
18	52555219	T	C	18	54887988	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	2.42783988400138E-4	0.002
18	52555219	T	G	18	54887988	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00256176729238944	0.11
18	52555220	T	A	18	54887989	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00802654772296946	0.122
18	52555220	T	C	18	54887989	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	1.36008856277328E-4	0.008
18	52555220	T	G	18	54887989	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0104738532375324	0.14
18	52555221	T	A	18	54887990	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00358489589941254	0.21
18	52555221	T	C	18	54887990	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	6.56045148385514E-4	0.032
18	52555221	T	G	18	54887990	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0155964854686756	0.302
18	52555222	C	A	18	54887991	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	4.90045454394801E-5	0.012
18	52555222	C	G	18	54887991	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	2.69844314856954E-4	0.006
18	52555222	C	T	18	54887991	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	9.59691663089632E-5	0.02
18	52555223	A	C	18	54887992	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00480139613196581	0.052
18	52555223	A	G	18	54887992	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.367939438672261	0.278
18	52555223	A	T	18	54887992	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00357378766332648	0.02
18	52555224	A	C	18	54887993	y	y	splicing	RAB27B(NM_004163:exon5:c.344-2A>C)	.	.	splicing	ENSG00000041353(ENST00000262094:exon5:c.344-2A>C;ENST00000592334:exon2:c.81-2A>C)	.	.	0.999988247793601	0.928
18	52555224	A	G	18	54887993	y	y	splicing	RAB27B(NM_004163:exon5:c.344-2A>G)	.	.	splicing	ENSG00000041353(ENST00000262094:exon5:c.344-2A>G;ENST00000592334:exon2:c.81-2A>G)	.	.	0.999988247793601	0.928
18	52555224	A	T	18	54887993	y	y	splicing	RAB27B(NM_004163:exon5:c.344-2A>T)	.	.	splicing	ENSG00000041353(ENST00000262094:exon5:c.344-2A>T;ENST00000592334:exon2:c.81-2A>T)	.	.	0.999988247793601	0.928
18	52555225	G	A	18	54887994	y	y	splicing	RAB27B(NM_004163:exon5:c.344-1G>A)	.	.	splicing	ENSG00000041353(ENST00000262094:exon5:c.344-1G>A;ENST00000592334:exon2:c.81-1G>A)	.	.	0.999986675681007	0.926
18	52555225	G	C	18	54887994	y	y	splicing	RAB27B(NM_004163:exon5:c.344-1G>C)	.	.	splicing	ENSG00000041353(ENST00000262094:exon5:c.344-1G>C;ENST00000592334:exon2:c.81-1G>C)	.	.	0.999986675681007	0.926
18	52555225	G	T	18	54887994	y	y	splicing	RAB27B(NM_004163:exon5:c.344-1G>T)	.	.	splicing	ENSG00000041353(ENST00000262094:exon5:c.344-1G>T;ENST00000592334:exon2:c.81-1G>T)	.	.	0.999986675681007	0.926
18	52555226	G	A	18	54887995	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G344A:p.S115N;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G344A:p.S115N;	0.998141254868618	0.88
18	52555226	G	C	18	54887995	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G344C:p.S115T;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G344C:p.S115T;	0.837218726974539	0.574
18	52555226	G	T	18	54887995	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G344T:p.S115I;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G344T:p.S115I;	0.999352673046191	0.986
18	52555227	C	A	18	54887996	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.C345A:p.S115R;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.C345A:p.S115R;	0.00204883023444742	0.06
18	52555227	C	G	18	54887996	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.C345G:p.S115R;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.C345G:p.S115R;	8.27230490076246E-4	0.038
18	52555227	C	T	18	54887996	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon5:c.C345T:p.S115S;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.C345T:p.S115S;	9.51607273868033E-4	0.022
18	52555347	T	A	18	54888116	y	n	exonic	RAB27B	stopgain SNV	RAB27B:NM_004163:exon5:c.T465A:p.Y155X;	exonic	ENSG00000041353	stopgain SNV	ENSG00000041353:ENST00000262094:exon5:c.T465A:p.Y155X;	1.23090511037507E-5	0.046
18	52555347	T	C	18	54888116	y	n	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon5:c.T465C:p.Y155Y;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.T465C:p.Y155Y;	1.26848964498332E-5	0.0
18	52555347	T	G	18	54888116	y	n	exonic	RAB27B	stopgain SNV	RAB27B:NM_004163:exon5:c.T465G:p.Y155X;	exonic	ENSG00000041353	stopgain SNV	ENSG00000041353:ENST00000262094:exon5:c.T465G:p.Y155X;	4.07569599809104E-5	0.092
18	52555348	G	A	18	54888117	y	n	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G466A:p.G156S;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G466A:p.G156S;	3.754457847188E-5	0.088
18	52555348	G	C	18	54888117	y	n	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G466C:p.G156R;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G466C:p.G156R;	1.25248942581082E-4	0.102
18	52555348	G	T	18	54888117	y	n	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G466T:p.G156C;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G466T:p.G156C;	1.06981680963033E-4	0.05
18	52555349	G	A	18	54888118	y	n	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G467A:p.G156D;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G467A:p.G156D;	0.800328562733889	0.554
18	52555349	G	C	18	54888118	y	n	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G467C:p.G156A;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G467C:p.G156A;	0.967530764211239	0.628
18	52555349	G	T	18	54888118	y	n	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon5:c.G467T:p.G156V;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon5:c.G467T:p.G156V;	0.998942561377328	0.876
18	52555350	G	A	18	54888119	y	n	splicing	RAB27B(NM_004163:exon5:c.467+1G>A)	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.999938990645747	0.94
18	52555350	G	C	18	54888119	y	n	splicing	RAB27B(NM_004163:exon5:c.467+1G>C)	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.999938990645747	0.922
18	52555350	G	T	18	54888119	y	n	splicing	RAB27B(NM_004163:exon5:c.467+1G>T)	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.999938990645747	0.936
18	52555351	T	A	18	54888120	y	n	splicing	RAB27B(NM_004163:exon5:c.467+2T>A)	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.999946188727699	0.936
18	52555351	T	C	18	54888120	y	n	splicing	RAB27B(NM_004163:exon5:c.467+2T>C)	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.974850032471317	0.578
18	52555351	T	G	18	54888120	y	n	splicing	RAB27B(NM_004163:exon5:c.467+2T>G)	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.999964896440643	0.934
18	52555352	A	C	18	54888121	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.578723172033968	0.494
18	52555352	A	G	18	54888121	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	1.07603361603741E-4	0.044
18	52555352	A	T	18	54888121	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.488640495691142	0.524
18	52555353	A	C	18	54888122	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.186583128864128	0.41
18	52555353	A	G	18	54888122	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.558484852609036	0.47
18	52555353	A	T	18	54888122	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.432940678478258	0.452
18	52555354	G	A	18	54888123	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.9965362119905	0.93
18	52555354	G	C	18	54888123	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.999774679281048	0.942
18	52555354	G	T	18	54888123	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.99535026633931	0.852
18	52555355	T	A	18	54888124	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.00103795944680671	0.194
18	52555355	T	C	18	54888124	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	0.00235877790429522	0.24
18	52555355	T	G	18	54888124	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	2.71051780415011E-4	0.134
18	52555356	C	A	18	54888125	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	2.05746745428764E-5	0.002
18	52555356	C	G	18	54888125	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	2.05746745428764E-5	0.002
18	52555356	C	T	18	54888125	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	2.05746745428764E-5	0.004
18	52555357	A	C	18	54888126	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	3.34303792003554E-5	0.0
18	52555357	A	G	18	54888126	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	3.91894933166611E-5	0.0
18	52555357	A	T	18	54888126	y	n	intronic	RAB27B	.	.	ncRNA_exonic	ENSG00000267112	.	.	4.90028566392549E-5	0.0
18	52556443	T	A	18	54889212	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00458656089637943	0.256
18	52556443	T	C	18	54889212	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	1.80023526605352E-4	0.01
18	52556443	T	G	18	54889212	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00206764652870684	0.216
18	52556444	T	A	18	54889213	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.759481367143674	0.488
18	52556444	T	C	18	54889213	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0136420922788716	0.346
18	52556444	T	G	18	54889213	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.369417624089733	0.482
18	52556445	T	A	18	54889214	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.781401718131048	0.646
18	52556445	T	C	18	54889214	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00334276394217466	0.164
18	52556445	T	G	18	54889214	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.840132106999318	0.634
18	52556446	C	A	18	54889215	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0019240864527942	0.118
18	52556446	C	G	18	54889215	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00342675091638866	0.124
18	52556446	C	T	18	54889215	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	3.95327186390368E-4	0.072
18	52556447	T	A	18	54889216	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00325039792498204	0.098
18	52556447	T	C	18	54889216	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	5.94218019914825E-5	0.018
18	52556447	T	G	18	54889216	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.00203995338168594	0.118
18	52556448	A	C	18	54889217	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	1.4495777165325E-5	0.0
18	52556448	A	G	18	54889217	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	2.6494782264688E-5	0.0
18	52556448	A	T	18	54889217	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	1.37549692584271E-5	0.002
18	52556449	T	A	18	54889218	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.999861107163386	0.942
18	52556449	T	C	18	54889218	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	2.78138905740751E-4	0.03
18	52556449	T	G	18	54889218	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.999936402882007	0.97
18	52556450	G	A	18	54889219	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	7.24317258089092E-5	0.04
18	52556450	G	C	18	54889219	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	9.19943274528352E-5	0.082
18	52556450	G	T	18	54889219	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	4.45343400790674E-4	0.096
18	52556451	C	A	18	54889220	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	1.01403478320965E-4	0.16
18	52556451	C	G	18	54889220	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	4.45498242120038E-4	0.022
18	52556451	C	T	18	54889220	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	2.1904766438885E-4	0.038
18	52556452	T	A	18	54889221	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0787854849061775	0.424
18	52556452	T	C	18	54889221	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	5.85644578916911E-5	0.024
18	52556452	T	G	18	54889221	y	y	intronic	RAB27B	.	.	ncRNA_intronic	ENSG00000267112	.	.	0.0711821861393107	0.386
18	52556453	A	C	18	54889222	y	y	splicing	RAB27B(NM_004163:exon6:c.468-2A>C)	.	.	splicing	ENSG00000041353(ENST00000262094:exon6:c.468-2A>C)	.	.	0.999979394981131	0.914
18	52556453	A	G	18	54889222	y	y	splicing	RAB27B(NM_004163:exon6:c.468-2A>G)	.	.	splicing	ENSG00000041353(ENST00000262094:exon6:c.468-2A>G)	.	.	0.999979394981131	0.914
18	52556453	A	T	18	54889222	y	y	splicing	RAB27B(NM_004163:exon6:c.468-2A>T)	.	.	splicing	ENSG00000041353(ENST00000262094:exon6:c.468-2A>T)	.	.	0.999979394981131	0.914
18	52556454	G	A	18	54889223	y	y	splicing	RAB27B(NM_004163:exon6:c.468-1G>A)	.	.	splicing	ENSG00000041353(ENST00000262094:exon6:c.468-1G>A)	.	.	0.999982627682474	0.908
18	52556454	G	C	18	54889223	y	y	splicing	RAB27B(NM_004163:exon6:c.468-1G>C)	.	.	splicing	ENSG00000041353(ENST00000262094:exon6:c.468-1G>C)	.	.	0.999982627682474	0.908
18	52556454	G	T	18	54889223	y	y	splicing	RAB27B(NM_004163:exon6:c.468-1G>T)	.	.	splicing	ENSG00000041353(ENST00000262094:exon6:c.468-1G>T)	.	.	0.999982627682474	0.908
18	52556455	C	A	18	54889224	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon6:c.C468A:p.G156G;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon6:c.C468A:p.G156G;	9.88048703445212E-5	0.032
18	52556455	C	G	18	54889224	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon6:c.C468G:p.G156G;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon6:c.C468G:p.G156G;	0.00115490586483156	0.144
18	52556455	C	T	18	54889224	y	y	exonic	RAB27B	synonymous SNV	RAB27B:NM_004163:exon6:c.C468T:p.G156G;	exonic	ENSG00000041353	synonymous SNV	ENSG00000041353:ENST00000262094:exon6:c.C468T:p.G156G;	0.00127708778527794	0.256
18	52556456	A	C	18	54889225	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon6:c.A469C:p.I157L;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon6:c.A469C:p.I157L;	0.0246883147109535	0.112
18	52556456	A	G	18	54889225	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon6:c.A469G:p.I157V;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon6:c.A469G:p.I157V;	0.00618116420642815	0.036
18	52556456	A	T	18	54889225	y	y	exonic	RAB27B	nonsynonymous SNV	RAB27B:NM_004163:exon6:c.A469T:p.I157L;	exonic	ENSG00000041353	nonsynonymous SNV	ENSG00000041353:ENST00000262094:exon6:c.A469T:p.I157L;	0.009409854267976	0.158
18	52570612	A	C	18	54903381	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.71406022660188E-5	0.0
18	52570612	A	G	18	54903381	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.71406022660188E-5	0.0
18	52570612	A	T	18	54903381	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.71406022660188E-5	0.0
18	52570613	C	A	18	54903382	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	2.28403109967019E-4	0.008
18	52570613	C	G	18	54903382	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	2.28403109967019E-4	0.008
18	52570613	C	T	18	54903382	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	2.06601198712881E-4	0.008
18	52570614	C	A	18	54903383	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon9:c.646-1G>T)	.	.	2.56717256822073E-4	0.008
18	52570614	C	G	18	54903383	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon9:c.646-1G>C)	.	.	2.82969803473514E-4	0.014
18	52570614	C	T	18	54903383	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon9:c.646-1G>A)	.	.	2.22232500240112E-4	0.008
18	52570615	T	A	18	54903384	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon9:c.646-2A>T)	.	.	7.69968134076753E-4	0.0
18	52570615	T	C	18	54903384	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon9:c.646-2A>G)	.	.	8.89371736124219E-4	0.0
18	52570615	T	G	18	54903384	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon9:c.646-2A>C)	.	.	8.89371736124219E-4	0.0
18	52570616	A	C	18	54903385	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.52053746354564E-4	0.0
18	52570616	A	G	18	54903385	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.52053746354564E-4	0.0
18	52570616	A	T	18	54903385	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.45800542088279E-4	0.004
18	52570617	C	A	18	54903386	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	8.67378569920084E-5	0.012
18	52570617	C	G	18	54903386	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	8.67378569920084E-5	0.012
18	52570617	C	T	18	54903386	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.2466282736431E-4	0.012
18	52570618	A	C	18	54903387	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.07902708129146E-4	0.002
18	52570618	A	G	18	54903387	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.07902708129146E-4	0.012
18	52570618	A	T	18	54903387	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.44101454748109E-4	0.004
18	52570619	A	C	18	54903388	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.05918261028706E-4	0.0
18	52570619	A	G	18	54903388	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.05918261028706E-4	0.0
18	52570619	A	T	18	54903388	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.73401366462724E-4	0.002
18	52570620	A	C	18	54903389	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	4.90028566392549E-5	0.0
18	52570620	A	G	18	54903389	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	4.90028566392549E-5	0.0
18	52570620	A	T	18	54903389	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.40839623268995E-5	0.0
18	52570621	G	A	18	54903390	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.24425137694629E-4	0.0
18	52570621	G	C	18	54903390	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	6.20279124519223E-5	0.0
18	52570621	G	T	18	54903390	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.12736331027192E-4	0.0
18	52570622	A	C	18	54903391	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	3.85062238621114E-5	0.004
18	52570622	A	G	18	54903391	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	3.85062238621114E-5	0.004
18	52570622	A	T	18	54903391	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.03334260509943E-4	0.004
18	52570623	A	C	18	54903392	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	3.13536747317882E-5	0.004
18	52570623	A	G	18	54903392	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	3.13536747317882E-5	0.004
18	52570623	A	T	18	54903392	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	3.13536747317882E-5	0.004
18	52570624	G	A	18	54903393	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	8.30945796578933E-5	0.0
18	52570624	G	C	18	54903393	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	8.30945796578933E-5	0.0
18	52570624	G	T	18	54903393	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	8.30945796578933E-5	0.0
18	52570625	G	A	18	54903394	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.01682222043794E-4	0.024
18	52570625	G	C	18	54903394	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.01682222043794E-4	0.024
18	52570625	G	T	18	54903394	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.01682222043794E-4	0.024
18	52571546	A	C	18	54904315	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.71203364201335E-4	0.058
18	52571546	A	G	18	54904315	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.71203364201335E-4	0.058
18	52571546	A	T	18	54904315	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	3.26616171328031E-4	0.052
18	52571547	G	A	18	54904316	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	7.67550008550162E-5	0.0
18	52571547	G	C	18	54904316	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	3.70118225477976E-5	0.0
18	52571547	G	T	18	54904316	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.31959046876704E-5	0.0
18	52571548	A	C	18	54904317	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	6.84650287766538E-5	0.012
18	52571548	A	G	18	54904317	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	6.84650287766538E-5	0.012
18	52571548	A	T	18	54904317	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.1861903910912E-4	0.012
18	52571549	C	A	18	54904318	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	2.91411541215493E-5	0.0
18	52571549	C	G	18	54904318	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	2.91411541215493E-5	0.0
18	52571549	C	T	18	54904318	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	6.04333442699812E-5	0.0
18	52571550	T	A	18	54904319	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.08271088596397E-4	0.0
18	52571550	T	C	18	54904319	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	9.30495912515022E-5	0.0
18	52571550	T	G	18	54904319	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	9.30495912515022E-5	0.0
18	52571551	C	A	18	54904320	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.55862927766097E-5	0.0
18	52571551	C	G	18	54904320	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.55862927766097E-5	0.0
18	52571551	C	T	18	54904320	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.55862927766097E-5	0.0
18	52571552	A	C	18	54904321	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon8:c.645+2T>G)	.	.	1.73401366462724E-4	0.0
18	52571552	A	G	18	54904321	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon8:c.645+2T>C)	.	.	1.73401366462724E-4	0.012
18	52571552	A	T	18	54904321	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon8:c.645+2T>A)	.	.	2.33950268484782E-4	0.002
18	52571553	C	A	18	54904322	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon8:c.645+1G>T)	.	.	1.2194139863653E-4	0.0
18	52571553	C	G	18	54904322	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon8:c.645+1G>C)	.	.	1.2194139863653E-4	0.0
18	52571553	C	T	18	54904322	n	y	UTR3	CCDC68	.	.	splicing	ENSG00000166510(ENST00000592040:exon8:c.645+1G>A)	.	.	1.2194139863653E-4	0.0
18	52571554	G	A	18	54904323	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	8.18429645671592E-5	0.004
18	52571554	G	C	18	54904323	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.69439264402225E-5	0.004
18	52571554	G	T	18	54904323	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	5.69439264402225E-5	0.004
18	52571555	C	A	18	54904324	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	4.22800136258938E-5	0.036
18	52571555	C	G	18	54904324	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	4.22800136258938E-5	0.038
18	52571555	C	T	18	54904324	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	6.07675666564794E-5	0.036
18	52571556	A	C	18	54904325	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	2.00708182052383E-4	0.012
18	52571556	A	G	18	54904325	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.98561944552076E-4	0.008
18	52571556	A	T	18	54904325	n	y	UTR3	CCDC68	.	.	UTR3	ENSG00000166510	.	.	1.43916350375549E-4	0.01
18	52571645	C	A	18	54904414	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon12:c.G952T:p.E318X;CCDC68:NM_025214:exon12:c.G952T:p.E318X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon12:c.G952T:p.E318X;ENSG00000166510:ENST00000432185:exon11:c.G952T:p.E318X;ENSG00000166510:ENST00000337363:exon12:c.G952T:p.E318X;	0.655129312212448	0.664
18	52571645	C	G	18	54904414	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon12:c.G952C:p.E318Q;CCDC68:NM_025214:exon12:c.G952C:p.E318Q;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon12:c.G952C:p.E318Q;ENSG00000166510:ENST00000432185:exon11:c.G952C:p.E318Q;ENSG00000166510:ENST00000337363:exon12:c.G952C:p.E318Q;	0.508214004279237	0.594
18	52571645	C	T	18	54904414	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon12:c.G952A:p.E318K;CCDC68:NM_025214:exon12:c.G952A:p.E318K;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon12:c.G952A:p.E318K;ENSG00000166510:ENST00000432185:exon11:c.G952A:p.E318K;ENSG00000166510:ENST00000337363:exon12:c.G952A:p.E318K;	0.435460053454746	0.488
18	52571646	A	C	18	54904415	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon12:c.T951G:p.S317R;CCDC68:NM_025214:exon12:c.T951G:p.S317R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon12:c.T951G:p.S317R;ENSG00000166510:ENST00000432185:exon11:c.T951G:p.S317R;ENSG00000166510:ENST00000337363:exon12:c.T951G:p.S317R;	1.72490854572004E-4	0.262
18	52571646	A	G	18	54904415	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon12:c.T951C:p.S317S;CCDC68:NM_025214:exon12:c.T951C:p.S317S;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon12:c.T951C:p.S317S;ENSG00000166510:ENST00000432185:exon11:c.T951C:p.S317S;ENSG00000166510:ENST00000337363:exon12:c.T951C:p.S317S;	3.32733206976947E-5	0.004
18	52571646	A	T	18	54904415	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon12:c.T951A:p.S317R;CCDC68:NM_025214:exon12:c.T951A:p.S317R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon12:c.T951A:p.S317R;ENSG00000166510:ENST00000432185:exon11:c.T951A:p.S317R;ENSG00000166510:ENST00000337363:exon12:c.T951A:p.S317R;	4.01459462872396E-5	0.202
18	52571647	C	A	18	54904416	y	y	splicing	CCDC68(NM_001143829:exon13:c.951-1G>T;NM_025214:exon13:c.951-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon13:c.951-1G>T;ENST00000432185:exon12:c.951-1G>T;ENST00000592040:exon8:c.553-1G>T;ENST00000337363:exon13:c.951-1G>T)	.	.	0.999990361384395	0.938
18	52571647	C	G	18	54904416	y	y	splicing	CCDC68(NM_001143829:exon13:c.951-1G>C;NM_025214:exon13:c.951-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon13:c.951-1G>C;ENST00000432185:exon12:c.951-1G>C;ENST00000592040:exon8:c.553-1G>C;ENST00000337363:exon13:c.951-1G>C)	.	.	0.999990361384395	0.938
18	52571647	C	T	18	54904416	y	y	splicing	CCDC68(NM_001143829:exon13:c.951-1G>A;NM_025214:exon13:c.951-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon13:c.951-1G>A;ENST00000432185:exon12:c.951-1G>A;ENST00000592040:exon8:c.553-1G>A;ENST00000337363:exon13:c.951-1G>A)	.	.	0.999990361384395	0.938
18	52571648	T	A	18	54904417	y	y	splicing	CCDC68(NM_001143829:exon13:c.951-2A>T;NM_025214:exon13:c.951-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon13:c.951-2A>T;ENST00000432185:exon12:c.951-2A>T;ENST00000592040:exon8:c.553-2A>T;ENST00000337363:exon13:c.951-2A>T)	.	.	0.999988247793601	0.932
18	52571648	T	C	18	54904417	y	y	splicing	CCDC68(NM_001143829:exon13:c.951-2A>G;NM_025214:exon13:c.951-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon13:c.951-2A>G;ENST00000432185:exon12:c.951-2A>G;ENST00000592040:exon8:c.553-2A>G;ENST00000337363:exon13:c.951-2A>G)	.	.	0.999988247793601	0.932
18	52571648	T	G	18	54904417	y	y	splicing	CCDC68(NM_001143829:exon13:c.951-2A>C;NM_025214:exon13:c.951-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon13:c.951-2A>C;ENST00000432185:exon12:c.951-2A>C;ENST00000592040:exon8:c.553-2A>C;ENST00000337363:exon13:c.951-2A>C)	.	.	0.999988247793601	0.932
18	52571649	G	A	18	54904418	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0395747670618221	0.16
18	52571649	G	C	18	54904418	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999850759314052	0.968
18	52571649	G	T	18	54904418	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.997510830732107	0.854
18	52571650	T	A	18	54904419	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.1313466451059E-5	0.026
18	52571650	T	C	18	54904419	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.46344486878738E-5	0.002
18	52571650	T	G	18	54904419	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.75407359062314E-5	0.0
18	52571651	A	C	18	54904420	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0101817390547505	0.284
18	52571651	A	G	18	54904420	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.58198624566504E-4	0.058
18	52571651	A	T	18	54904420	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00908161358551952	0.308
18	52571652	G	A	18	54904421	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.55190454125854E-4	0.004
18	52571652	G	C	18	54904421	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00723191988850593	0.174
18	52571652	G	T	18	54904421	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0134055319208796	0.158
18	52571653	A	C	18	54904422	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00579239462917117	0.144
18	52571653	A	G	18	54904422	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.89901833289237E-4	0.008
18	52571653	A	T	18	54904422	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0211025989932305	0.116
18	52571654	A	C	18	54904423	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00344227916193827	0.1
18	52571654	A	G	18	54904423	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00147815037310052	0.02
18	52571654	A	T	18	54904423	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0106129719781932	0.08
18	52571655	A	C	18	54904424	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.98048334876209E-4	0.118
18	52571655	A	G	18	54904424	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.26906077256831E-5	0.024
18	52571655	A	T	18	54904424	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00206322127100665	0.26
18	52571656	A	C	18	54904425	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.976737159047906	0.65
18	52571656	A	G	18	54904425	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.405877299073025	0.452
18	52571656	A	T	18	54904425	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.989768903105146	0.666
18	52571657	G	A	18	54904426	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.21812655352428E-5	0.0
18	52571657	G	C	18	54904426	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.10034392461306E-5	0.024
18	52571657	G	T	18	54904426	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.85227649267938E-4	0.036
18	52571658	A	C	18	54904427	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.919373548618306	0.542
18	52571658	A	G	18	54904427	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.200625166491568	0.43
18	52571658	A	T	18	54904427	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.972548697630436	0.554
18	52575009	G	A	18	54907778	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.93972165730067E-5	0.0
18	52575009	G	C	18	54907778	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.93972165730067E-5	0.0
18	52575009	G	T	18	54907778	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.93972165730067E-5	0.004
18	52575010	A	C	18	54907779	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.17564447662592E-4	0.0
18	52575010	A	G	18	54907779	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.17564447662592E-4	0.0
18	52575010	A	T	18	54907779	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.46844991217429E-5	0.0
18	52575011	C	A	18	54907780	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.29827313442406E-5	0.0
18	52575011	C	G	18	54907780	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.85750140702031E-5	0.004
18	52575011	C	T	18	54907780	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.62742015942697E-5	0.002
18	52575012	C	A	18	54907781	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.294175854255692	0.426
18	52575012	C	G	18	54907781	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.207738108286624	0.496
18	52575012	C	T	18	54907781	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.429090969427717	0.478
18	52575013	T	A	18	54907782	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0169345496151774	0.284
18	52575013	T	C	18	54907782	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.086822370371205	0.31
18	52575013	T	G	18	54907782	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00926180946301797	0.29
18	52575014	T	A	18	54907783	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.980083591399236	0.62
18	52575014	T	C	18	54907783	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00217084489475782	0.114
18	52575014	T	G	18	54907783	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.992820703282022	0.718
18	52575015	A	C	18	54907784	y	y	splicing	CCDC68(NM_001143829:exon12:c.950+2T>G;NM_025214:exon12:c.950+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.950+2T>G;ENST00000432185:exon11:c.950+2T>G;ENST00000592040:exon7:c.552+2T>G;ENST00000337363:exon12:c.950+2T>G)	.	.	0.999988247793601	0.928
18	52575015	A	G	18	54907784	y	y	splicing	CCDC68(NM_001143829:exon12:c.950+2T>C;NM_025214:exon12:c.950+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.950+2T>C;ENST00000432185:exon11:c.950+2T>C;ENST00000592040:exon7:c.552+2T>C;ENST00000337363:exon12:c.950+2T>C)	.	.	0.98918007292081	0.668
18	52575015	A	T	18	54907784	y	y	splicing	CCDC68(NM_001143829:exon12:c.950+2T>A;NM_025214:exon12:c.950+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.950+2T>A;ENST00000432185:exon11:c.950+2T>A;ENST00000592040:exon7:c.552+2T>A;ENST00000337363:exon12:c.950+2T>A)	.	.	0.999988247793601	0.928
18	52575016	C	A	18	54907785	y	y	splicing	CCDC68(NM_001143829:exon12:c.950+1G>T;NM_025214:exon12:c.950+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.950+1G>T;ENST00000432185:exon11:c.950+1G>T;ENST00000592040:exon7:c.552+1G>T;ENST00000337363:exon12:c.950+1G>T)	.	.	0.999990361384395	0.936
18	52575016	C	G	18	54907785	y	y	splicing	CCDC68(NM_001143829:exon12:c.950+1G>C;NM_025214:exon12:c.950+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.950+1G>C;ENST00000432185:exon11:c.950+1G>C;ENST00000592040:exon7:c.552+1G>C;ENST00000337363:exon12:c.950+1G>C)	.	.	0.999990361384395	0.936
18	52575016	C	T	18	54907785	y	y	splicing	CCDC68(NM_001143829:exon12:c.950+1G>A;NM_025214:exon12:c.950+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.950+1G>A;ENST00000432185:exon11:c.950+1G>A;ENST00000592040:exon7:c.552+1G>A;ENST00000337363:exon12:c.950+1G>A)	.	.	0.999990361384395	0.936
18	52575017	C	A	18	54907786	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.G950T:p.S317I;CCDC68:NM_025214:exon11:c.G950T:p.S317I;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.G950T:p.S317I;ENSG00000166510:ENST00000432185:exon10:c.G950T:p.S317I;ENSG00000166510:ENST00000337363:exon11:c.G950T:p.S317I;	0.999829445552834	0.938
18	52575017	C	G	18	54907786	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.G950C:p.S317T;CCDC68:NM_025214:exon11:c.G950C:p.S317T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.G950C:p.S317T;ENSG00000166510:ENST00000432185:exon10:c.G950C:p.S317T;ENSG00000166510:ENST00000337363:exon11:c.G950C:p.S317T;	0.999980003112552	0.942
18	52575017	C	T	18	54907786	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.G950A:p.S317N;CCDC68:NM_025214:exon11:c.G950A:p.S317N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.G950A:p.S317N;ENSG00000166510:ENST00000432185:exon10:c.G950A:p.S317N;ENSG00000166510:ENST00000337363:exon11:c.G950A:p.S317N;	0.999949968483356	0.998
18	52575018	T	A	18	54907787	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A949T:p.S317C;CCDC68:NM_025214:exon11:c.A949T:p.S317C;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A949T:p.S317C;ENSG00000166510:ENST00000432185:exon10:c.A949T:p.S317C;ENSG00000166510:ENST00000337363:exon11:c.A949T:p.S317C;	0.610636175525681	0.532
18	52575018	T	C	18	54907787	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A949G:p.S317G;CCDC68:NM_025214:exon11:c.A949G:p.S317G;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A949G:p.S317G;ENSG00000166510:ENST00000432185:exon10:c.A949G:p.S317G;ENSG00000166510:ENST00000337363:exon11:c.A949G:p.S317G;	0.369420684576624	0.59
18	52575018	T	G	18	54907787	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A949C:p.S317R;CCDC68:NM_025214:exon11:c.A949C:p.S317R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A949C:p.S317R;ENSG00000166510:ENST00000432185:exon10:c.A949C:p.S317R;ENSG00000166510:ENST00000337363:exon11:c.A949C:p.S317R;	0.718912559872682	0.656
18	52575019	T	A	18	54907788	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon11:c.A948T:p.T316T;CCDC68:NM_025214:exon11:c.A948T:p.T316T;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A948T:p.T316T;ENSG00000166510:ENST00000432185:exon10:c.A948T:p.T316T;ENSG00000166510:ENST00000337363:exon11:c.A948T:p.T316T;	0.00105344022418563	0.19
18	52575019	T	C	18	54907788	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon11:c.A948G:p.T316T;CCDC68:NM_025214:exon11:c.A948G:p.T316T;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A948G:p.T316T;ENSG00000166510:ENST00000432185:exon10:c.A948G:p.T316T;ENSG00000166510:ENST00000337363:exon11:c.A948G:p.T316T;	2.52796547762613E-4	0.02
18	52575019	T	G	18	54907788	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon11:c.A948C:p.T316T;CCDC68:NM_025214:exon11:c.A948C:p.T316T;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A948C:p.T316T;ENSG00000166510:ENST00000432185:exon10:c.A948C:p.T316T;ENSG00000166510:ENST00000337363:exon11:c.A948C:p.T316T;	6.32078031785572E-5	0.01
18	52575092	T	A	18	54907861	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A875T:p.N292I;CCDC68:NM_025214:exon11:c.A875T:p.N292I;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A875T:p.N292I;ENSG00000166510:ENST00000432185:exon10:c.A875T:p.N292I;ENSG00000166510:ENST00000337363:exon11:c.A875T:p.N292I;	0.901505936051244	0.76
18	52575092	T	C	18	54907861	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A875G:p.N292S;CCDC68:NM_025214:exon11:c.A875G:p.N292S;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A875G:p.N292S;ENSG00000166510:ENST00000432185:exon10:c.A875G:p.N292S;ENSG00000166510:ENST00000337363:exon11:c.A875G:p.N292S;	0.891979287985637	0.676
18	52575092	T	G	18	54907861	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A875C:p.N292T;CCDC68:NM_025214:exon11:c.A875C:p.N292T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A875C:p.N292T;ENSG00000166510:ENST00000432185:exon10:c.A875C:p.N292T;ENSG00000166510:ENST00000337363:exon11:c.A875C:p.N292T;	0.916414529258527	0.846
18	52575093	T	A	18	54907862	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A874T:p.N292Y;CCDC68:NM_025214:exon11:c.A874T:p.N292Y;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A874T:p.N292Y;ENSG00000166510:ENST00000432185:exon10:c.A874T:p.N292Y;ENSG00000166510:ENST00000337363:exon11:c.A874T:p.N292Y;	0.849181545228062	0.524
18	52575093	T	C	18	54907862	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A874G:p.N292D;CCDC68:NM_025214:exon11:c.A874G:p.N292D;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A874G:p.N292D;ENSG00000166510:ENST00000432185:exon10:c.A874G:p.N292D;ENSG00000166510:ENST00000337363:exon11:c.A874G:p.N292D;	0.734607980954045	0.68
18	52575093	T	G	18	54907862	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon11:c.A874C:p.N292H;CCDC68:NM_025214:exon11:c.A874C:p.N292H;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon11:c.A874C:p.N292H;ENSG00000166510:ENST00000432185:exon10:c.A874C:p.N292H;ENSG00000166510:ENST00000337363:exon11:c.A874C:p.N292H;	0.829420645834096	0.62
18	52575094	C	A	18	54907863	y	y	splicing	CCDC68(NM_001143829:exon12:c.874-1G>T;NM_025214:exon12:c.874-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.874-1G>T;ENST00000432185:exon11:c.874-1G>T;ENST00000592040:exon7:c.476-1G>T;ENST00000337363:exon12:c.874-1G>T)	.	.	0.999990361384395	0.938
18	52575094	C	G	18	54907863	y	y	splicing	CCDC68(NM_001143829:exon12:c.874-1G>C;NM_025214:exon12:c.874-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.874-1G>C;ENST00000432185:exon11:c.874-1G>C;ENST00000592040:exon7:c.476-1G>C;ENST00000337363:exon12:c.874-1G>C)	.	.	0.999990361384395	0.938
18	52575094	C	T	18	54907863	y	y	splicing	CCDC68(NM_001143829:exon12:c.874-1G>A;NM_025214:exon12:c.874-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.874-1G>A;ENST00000432185:exon11:c.874-1G>A;ENST00000592040:exon7:c.476-1G>A;ENST00000337363:exon12:c.874-1G>A)	.	.	0.999990361384395	0.938
18	52575095	T	A	18	54907864	y	y	splicing	CCDC68(NM_001143829:exon12:c.874-2A>T;NM_025214:exon12:c.874-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.874-2A>T;ENST00000432185:exon11:c.874-2A>T;ENST00000592040:exon7:c.476-2A>T;ENST00000337363:exon12:c.874-2A>T)	.	.	0.999988247793601	0.93
18	52575095	T	C	18	54907864	y	y	splicing	CCDC68(NM_001143829:exon12:c.874-2A>G;NM_025214:exon12:c.874-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.874-2A>G;ENST00000432185:exon11:c.874-2A>G;ENST00000592040:exon7:c.476-2A>G;ENST00000337363:exon12:c.874-2A>G)	.	.	0.999988247793601	0.93
18	52575095	T	G	18	54907864	y	y	splicing	CCDC68(NM_001143829:exon12:c.874-2A>C;NM_025214:exon12:c.874-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon12:c.874-2A>C;ENST00000432185:exon11:c.874-2A>C;ENST00000592040:exon7:c.476-2A>C;ENST00000337363:exon12:c.874-2A>C)	.	.	0.999988247793601	0.93
18	52575096	A	C	18	54907865	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.650695850702941	0.628
18	52575096	A	G	18	54907865	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.37639775523553E-5	0.006
18	52575096	A	T	18	54907865	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00775116012378108	0.244
18	52575097	A	C	18	54907866	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00261141124280707	0.02
18	52575097	A	G	18	54907866	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.85414556535451E-4	0.01
18	52575097	A	T	18	54907866	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00111649790812621	0.04
18	52575098	A	C	18	54907867	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.998802959807603	0.924
18	52575098	A	G	18	54907867	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.602516181742409	0.382
18	52575098	A	T	18	54907867	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999101510579575	0.944
18	52575099	A	C	18	54907868	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999638025255275	0.958
18	52575099	A	G	18	54907868	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.64017753056812E-4	0.024
18	52575099	A	T	18	54907868	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0616833144071923	0.532
18	52575100	T	A	18	54907869	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.32551534289822E-4	0.0
18	52575100	T	C	18	54907869	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.998292306418973	0.936
18	52575100	T	G	18	54907869	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00140722320759213	0.006
18	52575101	T	A	18	54907870	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.77252586325162E-4	0.002
18	52575101	T	C	18	54907870	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00136940290268247	0.032
18	52575101	T	G	18	54907870	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.36439671616721E-4	0.02
18	52575102	G	A	18	54907871	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.04172519237771E-4	0.02
18	52575102	G	C	18	54907871	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00243533135471359	0.152
18	52575102	G	T	18	54907871	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0012969755770077	0.084
18	52575103	A	C	18	54907872	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.953662934898838	0.648
18	52575103	A	G	18	54907872	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.34678562574629E-5	0.026
18	52575103	A	T	18	54907872	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.924604545675085	0.534
18	52575104	A	C	18	54907873	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.961025659472964	0.742
18	52575104	A	G	18	54907873	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.219168136225554	0.334
18	52575104	A	T	18	54907873	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.942996384055645	0.772
18	52575105	A	C	18	54907874	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.146644984972875	0.544
18	52575105	A	G	18	54907874	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0021025037108535	0.038
18	52575105	A	T	18	54907874	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0405413977496971	0.508
18	52585136	C	A	18	54917905	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.68952365742707E-5	0.002
18	52585136	C	G	18	54917905	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.68952365742707E-5	0.002
18	52585136	C	T	18	54917905	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.88563338073588E-5	0.002
18	52585137	T	A	18	54917906	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0018968380904937	0.018
18	52585137	T	C	18	54917906	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00270527361187034	0.034
18	52585137	T	G	18	54917906	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00253248885272726	0.022
18	52585138	C	A	18	54917907	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.7532833978004E-5	0.0
18	52585138	C	G	18	54917907	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.92767142054893E-5	0.008
18	52585138	C	T	18	54917907	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.15791162519077E-4	0.0
18	52585139	C	A	18	54917908	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.565752665648951	0.488
18	52585139	C	G	18	54917908	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.317122639560175	0.392
18	52585139	C	T	18	54917908	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.575852927705738	0.584
18	52585140	T	A	18	54917909	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.105285872357538	0.306
18	52585140	T	C	18	54917909	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.401320860237326	0.346
18	52585140	T	G	18	54917909	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.1355539861612	0.334
18	52585141	T	A	18	54917910	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.950711752343459	0.6
18	52585141	T	C	18	54917910	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0037060476960463	0.094
18	52585141	T	G	18	54917910	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.964336834337588	0.69
18	52585142	A	C	18	54917911	y	y	splicing	CCDC68(NM_001143829:exon11:c.873+2T>G;NM_025214:exon11:c.873+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.873+2T>G;ENST00000432185:exon10:c.873+2T>G;ENST00000592040:exon6:c.475+2T>G;ENST00000337363:exon11:c.873+2T>G)	.	.	0.999989917668626	0.92
18	52585142	A	G	18	54917911	y	y	splicing	CCDC68(NM_001143829:exon11:c.873+2T>C;NM_025214:exon11:c.873+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.873+2T>C;ENST00000432185:exon10:c.873+2T>C;ENST00000592040:exon6:c.475+2T>C;ENST00000337363:exon11:c.873+2T>C)	.	.	0.990945634311904	0.616
18	52585142	A	T	18	54917911	y	y	splicing	CCDC68(NM_001143829:exon11:c.873+2T>A;NM_025214:exon11:c.873+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.873+2T>A;ENST00000432185:exon10:c.873+2T>A;ENST00000592040:exon6:c.475+2T>A;ENST00000337363:exon11:c.873+2T>A)	.	.	0.999989917668626	0.926
18	52585143	C	A	18	54917912	y	y	splicing	CCDC68(NM_001143829:exon11:c.873+1G>T;NM_025214:exon11:c.873+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.873+1G>T;ENST00000432185:exon10:c.873+1G>T;ENST00000592040:exon6:c.475+1G>T;ENST00000337363:exon11:c.873+1G>T)	.	.	0.999986675681007	0.934
18	52585143	C	G	18	54917912	y	y	splicing	CCDC68(NM_001143829:exon11:c.873+1G>C;NM_025214:exon11:c.873+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.873+1G>C;ENST00000432185:exon10:c.873+1G>C;ENST00000592040:exon6:c.475+1G>C;ENST00000337363:exon11:c.873+1G>C)	.	.	0.999986675681007	0.906
18	52585143	C	T	18	54917912	y	y	splicing	CCDC68(NM_001143829:exon11:c.873+1G>A;NM_025214:exon11:c.873+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.873+1G>A;ENST00000432185:exon10:c.873+1G>A;ENST00000592040:exon6:c.475+1G>A;ENST00000337363:exon11:c.873+1G>A)	.	.	0.999986675681007	0.934
18	52585144	C	A	18	54917913	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.G873T:p.Q291H;CCDC68:NM_025214:exon10:c.G873T:p.Q291H;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.G873T:p.Q291H;ENSG00000166510:ENST00000432185:exon9:c.G873T:p.Q291H;ENSG00000166510:ENST00000337363:exon10:c.G873T:p.Q291H;	0.999555138315847	0.976
18	52585144	C	G	18	54917913	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.G873C:p.Q291H;CCDC68:NM_025214:exon10:c.G873C:p.Q291H;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.G873C:p.Q291H;ENSG00000166510:ENST00000432185:exon9:c.G873C:p.Q291H;ENSG00000166510:ENST00000337363:exon10:c.G873C:p.Q291H;	0.999855358827106	0.974
18	52585144	C	T	18	54917913	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon10:c.G873A:p.Q291Q;CCDC68:NM_025214:exon10:c.G873A:p.Q291Q;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.G873A:p.Q291Q;ENSG00000166510:ENST00000432185:exon9:c.G873A:p.Q291Q;ENSG00000166510:ENST00000337363:exon10:c.G873A:p.Q291Q;	0.96500762449381	0.904
18	52585145	T	A	18	54917914	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.A872T:p.Q291L;CCDC68:NM_025214:exon10:c.A872T:p.Q291L;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.A872T:p.Q291L;ENSG00000166510:ENST00000432185:exon9:c.A872T:p.Q291L;ENSG00000166510:ENST00000337363:exon10:c.A872T:p.Q291L;	0.98974850261138	0.614
18	52585145	T	C	18	54917914	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.A872G:p.Q291R;CCDC68:NM_025214:exon10:c.A872G:p.Q291R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.A872G:p.Q291R;ENSG00000166510:ENST00000432185:exon9:c.A872G:p.Q291R;ENSG00000166510:ENST00000337363:exon10:c.A872G:p.Q291R;	0.986677353753722	0.88
18	52585145	T	G	18	54917914	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.A872C:p.Q291P;CCDC68:NM_025214:exon10:c.A872C:p.Q291P;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.A872C:p.Q291P;ENSG00000166510:ENST00000432185:exon9:c.A872C:p.Q291P;ENSG00000166510:ENST00000337363:exon10:c.A872C:p.Q291P;	0.995586191005431	0.846
18	52585146	G	A	18	54917915	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon10:c.C871T:p.Q291X;CCDC68:NM_025214:exon10:c.C871T:p.Q291X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon10:c.C871T:p.Q291X;ENSG00000166510:ENST00000432185:exon9:c.C871T:p.Q291X;ENSG00000166510:ENST00000337363:exon10:c.C871T:p.Q291X;	0.988310712112719	0.73
18	52585146	G	C	18	54917915	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.C871G:p.Q291E;CCDC68:NM_025214:exon10:c.C871G:p.Q291E;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.C871G:p.Q291E;ENSG00000166510:ENST00000432185:exon9:c.C871G:p.Q291E;ENSG00000166510:ENST00000337363:exon10:c.C871G:p.Q291E;	8.14764936634938E-4	0.084
18	52585146	G	T	18	54917915	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.C871A:p.Q291K;CCDC68:NM_025214:exon10:c.C871A:p.Q291K;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.C871A:p.Q291K;ENSG00000166510:ENST00000432185:exon9:c.C871A:p.Q291K;ENSG00000166510:ENST00000337363:exon10:c.C871A:p.Q291K;	0.741637527427052	0.628
18	52585226	A	C	18	54917995	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.T791G:p.M264R;CCDC68:NM_025214:exon10:c.T791G:p.M264R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.T791G:p.M264R;ENSG00000166510:ENST00000432185:exon9:c.T791G:p.M264R;ENSG00000166510:ENST00000337363:exon10:c.T791G:p.M264R;	0.0103657955869967	0.154
18	52585226	A	G	18	54917995	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.T791C:p.M264T;CCDC68:NM_025214:exon10:c.T791C:p.M264T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.T791C:p.M264T;ENSG00000166510:ENST00000432185:exon9:c.T791C:p.M264T;ENSG00000166510:ENST00000337363:exon10:c.T791C:p.M264T;	0.00435133402142622	0.094
18	52585226	A	T	18	54917995	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.T791A:p.M264K;CCDC68:NM_025214:exon10:c.T791A:p.M264K;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.T791A:p.M264K;ENSG00000166510:ENST00000432185:exon9:c.T791A:p.M264K;ENSG00000166510:ENST00000337363:exon10:c.T791A:p.M264K;	0.0741629732049619	0.146
18	52585227	T	A	18	54917996	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.A790T:p.M264L;CCDC68:NM_025214:exon10:c.A790T:p.M264L;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.A790T:p.M264L;ENSG00000166510:ENST00000432185:exon9:c.A790T:p.M264L;ENSG00000166510:ENST00000337363:exon10:c.A790T:p.M264L;	0.00447708680793787	0.124
18	52585227	T	C	18	54917996	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.A790G:p.M264V;CCDC68:NM_025214:exon10:c.A790G:p.M264V;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.A790G:p.M264V;ENSG00000166510:ENST00000432185:exon9:c.A790G:p.M264V;ENSG00000166510:ENST00000337363:exon10:c.A790G:p.M264V;	1.26996335855137E-5	0.01
18	52585227	T	G	18	54917996	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon10:c.A790C:p.M264L;CCDC68:NM_025214:exon10:c.A790C:p.M264L;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon10:c.A790C:p.M264L;ENSG00000166510:ENST00000432185:exon9:c.A790C:p.M264L;ENSG00000166510:ENST00000337363:exon10:c.A790C:p.M264L;	0.00301123531051791	0.12
18	52585228	C	A	18	54917997	y	y	splicing	CCDC68(NM_001143829:exon11:c.790-1G>T;NM_025214:exon11:c.790-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.790-1G>T;ENST00000432185:exon10:c.790-1G>T;ENST00000592040:exon6:c.392-1G>T;ENST00000337363:exon11:c.790-1G>T)	.	.	0.999938422912956	0.936
18	52585228	C	G	18	54917997	y	y	splicing	CCDC68(NM_001143829:exon11:c.790-1G>C;NM_025214:exon11:c.790-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.790-1G>C;ENST00000432185:exon10:c.790-1G>C;ENST00000592040:exon6:c.392-1G>C;ENST00000337363:exon11:c.790-1G>C)	.	.	0.999938422912956	0.928
18	52585228	C	T	18	54917997	y	y	splicing	CCDC68(NM_001143829:exon11:c.790-1G>A;NM_025214:exon11:c.790-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.790-1G>A;ENST00000432185:exon10:c.790-1G>A;ENST00000592040:exon6:c.392-1G>A;ENST00000337363:exon11:c.790-1G>A)	.	.	0.999976137096505	0.936
18	52585229	T	A	18	54917998	y	y	splicing	CCDC68(NM_001143829:exon11:c.790-2A>T;NM_025214:exon11:c.790-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.790-2A>T;ENST00000432185:exon10:c.790-2A>T;ENST00000592040:exon6:c.392-2A>T;ENST00000337363:exon11:c.790-2A>T)	.	.	0.999966203349492	0.928
18	52585229	T	C	18	54917998	y	y	splicing	CCDC68(NM_001143829:exon11:c.790-2A>G;NM_025214:exon11:c.790-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.790-2A>G;ENST00000432185:exon10:c.790-2A>G;ENST00000592040:exon6:c.392-2A>G;ENST00000337363:exon11:c.790-2A>G)	.	.	0.999966203349492	0.936
18	52585229	T	G	18	54917998	y	y	splicing	CCDC68(NM_001143829:exon11:c.790-2A>C;NM_025214:exon11:c.790-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon11:c.790-2A>C;ENST00000432185:exon10:c.790-2A>C;ENST00000592040:exon6:c.392-2A>C;ENST00000337363:exon11:c.790-2A>C)	.	.	0.999966203349492	0.934
18	52585230	A	C	18	54917999	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.973328739374806	0.706
18	52585230	A	G	18	54917999	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.7817629296943E-5	0.004
18	52585230	A	T	18	54917999	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0141237376134075	0.266
18	52585231	A	C	18	54918000	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.69858957237674E-5	0.0
18	52585231	A	G	18	54918000	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.40732386068412E-5	0.002
18	52585231	A	T	18	54918000	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.09999620124896E-5	0.0
18	52585232	G	A	18	54918001	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.43099908483724E-5	0.0
18	52585232	G	C	18	54918001	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.26721791016376E-4	0.092
18	52585232	G	T	18	54918001	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.8384307641499E-4	0.048
18	52585233	A	C	18	54918002	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.55381778255588	0.516
18	52585233	A	G	18	54918002	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.39146564622296E-4	0.02
18	52585233	A	T	18	54918002	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.42647426861159	0.474
18	52585234	A	C	18	54918003	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999963527057248	0.952
18	52585234	A	G	18	54918003	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.2657956954198E-4	0.002
18	52585234	A	T	18	54918003	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0184863382939296	0.12
18	52585235	T	A	18	54918004	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0015179638209547	0.028
18	52585235	T	C	18	54918004	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.99896570084588	0.914
18	52585235	T	G	18	54918004	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00181332490797707	0.024
18	52585236	T	A	18	54918005	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.05284320701927E-5	0.0
18	52585236	T	C	18	54918005	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.36810990597951E-4	0.016
18	52585236	T	G	18	54918005	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.92198338735349E-5	0.03
18	52585237	A	C	18	54918006	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0265677941443318	0.436
18	52585237	A	G	18	54918006	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00194932582792224	0.088
18	52585237	A	T	18	54918006	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.111128634914342	0.458
18	52585238	G	A	18	54918007	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.28462947281409E-4	0.002
18	52585238	G	C	18	54918007	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0011655476434842	0.058
18	52585238	G	T	18	54918007	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00644225115518684	0.1
18	52585239	A	C	18	54918008	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.150609682350537	0.414
18	52585239	A	G	18	54918008	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.5458037348809E-4	0.02
18	52585239	A	T	18	54918008	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.184610723836757	0.544
18	52586494	A	C	18	54919263	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.12618148949269E-5	0.002
18	52586494	A	G	18	54919263	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.12618148949269E-5	0.026
18	52586494	A	T	18	54919263	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.82177879718346E-5	0.0
18	52586495	A	C	18	54919264	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.16680427783628E-5	0.0
18	52586495	A	G	18	54919264	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.78140842123866E-4	0.0
18	52586495	A	T	18	54919264	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.78140842123866E-4	0.0
18	52586496	T	A	18	54919265	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.12045736040035E-5	0.002
18	52586496	T	C	18	54919265	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.93545527487379E-4	0.062
18	52586496	T	G	18	54919265	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.03019875484202E-5	0.002
18	52586497	C	A	18	54919266	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999918824196698	0.98
18	52586497	C	G	18	54919266	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999978132387627	0.988
18	52586497	C	T	18	54919266	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999948571796647	0.976
18	52586498	T	A	18	54919267	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.996589247730037	0.836
18	52586498	T	C	18	54919267	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.980999637735088	0.834
18	52586498	T	G	18	54919267	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.997521869290787	0.866
18	52586499	G	A	18	54919268	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00403738612044578	0.142
18	52586499	G	C	18	54919268	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.43538758581656E-4	0.092
18	52586499	G	T	18	54919268	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0010999010913796	0.098
18	52586500	A	C	18	54919269	y	y	splicing	CCDC68(NM_001143829:exon10:c.789+2T>G;NM_025214:exon10:c.789+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.789+2T>G;ENST00000432185:exon9:c.789+2T>G;ENST00000592040:exon5:c.391+2T>G;ENST00000337363:exon10:c.789+2T>G)	.	.	0.999976254090479	0.938
18	52586500	A	G	18	54919269	y	y	splicing	CCDC68(NM_001143829:exon10:c.789+2T>C;NM_025214:exon10:c.789+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.789+2T>C;ENST00000432185:exon9:c.789+2T>C;ENST00000592040:exon5:c.391+2T>C;ENST00000337363:exon10:c.789+2T>C)	.	.	0.999807304965182	0.904
18	52586500	A	T	18	54919269	y	y	splicing	CCDC68(NM_001143829:exon10:c.789+2T>A;NM_025214:exon10:c.789+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.789+2T>A;ENST00000432185:exon9:c.789+2T>A;ENST00000592040:exon5:c.391+2T>A;ENST00000337363:exon10:c.789+2T>A)	.	.	0.999986741007567	0.94
18	52586501	C	A	18	54919270	y	y	splicing	CCDC68(NM_001143829:exon10:c.789+1G>T;NM_025214:exon10:c.789+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.789+1G>T;ENST00000432185:exon9:c.789+1G>T;ENST00000592040:exon5:c.391+1G>T;ENST00000337363:exon10:c.789+1G>T)	.	.	0.999983677848485	0.94
18	52586501	C	G	18	54919270	y	y	splicing	CCDC68(NM_001143829:exon10:c.789+1G>C;NM_025214:exon10:c.789+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.789+1G>C;ENST00000432185:exon9:c.789+1G>C;ENST00000592040:exon5:c.391+1G>C;ENST00000337363:exon10:c.789+1G>C)	.	.	0.999983677848485	0.94
18	52586501	C	T	18	54919270	y	y	splicing	CCDC68(NM_001143829:exon10:c.789+1G>A;NM_025214:exon10:c.789+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.789+1G>A;ENST00000432185:exon9:c.789+1G>A;ENST00000592040:exon5:c.391+1G>A;ENST00000337363:exon10:c.789+1G>A)	.	.	0.999983677848485	0.94
18	52586502	C	A	18	54919271	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.G789T:p.E263D;CCDC68:NM_025214:exon9:c.G789T:p.E263D;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.G789T:p.E263D;ENSG00000166510:ENST00000432185:exon8:c.G789T:p.E263D;ENSG00000166510:ENST00000337363:exon9:c.G789T:p.E263D;	0.999993925344275	0.97
18	52586502	C	G	18	54919271	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.G789C:p.E263D;CCDC68:NM_025214:exon9:c.G789C:p.E263D;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.G789C:p.E263D;ENSG00000166510:ENST00000432185:exon8:c.G789C:p.E263D;ENSG00000166510:ENST00000337363:exon9:c.G789C:p.E263D;	0.9999981677847	1.0
18	52586502	C	T	18	54919271	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon9:c.G789A:p.E263E;CCDC68:NM_025214:exon9:c.G789A:p.E263E;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.G789A:p.E263E;ENSG00000166510:ENST00000432185:exon8:c.G789A:p.E263E;ENSG00000166510:ENST00000337363:exon9:c.G789A:p.E263E;	0.999991804369173	0.966
18	52586503	T	A	18	54919272	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.A788T:p.E263V;CCDC68:NM_025214:exon9:c.A788T:p.E263V;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.A788T:p.E263V;ENSG00000166510:ENST00000432185:exon8:c.A788T:p.E263V;ENSG00000166510:ENST00000337363:exon9:c.A788T:p.E263V;	0.999962442447603	0.998
18	52586503	T	C	18	54919272	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.A788G:p.E263G;CCDC68:NM_025214:exon9:c.A788G:p.E263G;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.A788G:p.E263G;ENSG00000166510:ENST00000432185:exon8:c.A788G:p.E263G;ENSG00000166510:ENST00000337363:exon9:c.A788G:p.E263G;	0.99997273017508	0.998
18	52586503	T	G	18	54919272	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.A788C:p.E263A;CCDC68:NM_025214:exon9:c.A788C:p.E263A;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.A788C:p.E263A;ENSG00000166510:ENST00000432185:exon8:c.A788C:p.E263A;ENSG00000166510:ENST00000337363:exon9:c.A788C:p.E263A;	0.999911722571359	0.996
18	52586504	C	A	18	54919273	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon9:c.G787T:p.E263X;CCDC68:NM_025214:exon9:c.G787T:p.E263X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon9:c.G787T:p.E263X;ENSG00000166510:ENST00000432185:exon8:c.G787T:p.E263X;ENSG00000166510:ENST00000337363:exon9:c.G787T:p.E263X;	0.125535874524138	0.294
18	52586504	C	G	18	54919273	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.G787C:p.E263Q;CCDC68:NM_025214:exon9:c.G787C:p.E263Q;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.G787C:p.E263Q;ENSG00000166510:ENST00000432185:exon8:c.G787C:p.E263Q;ENSG00000166510:ENST00000337363:exon9:c.G787C:p.E263Q;	0.00343218103462916	0.142
18	52586504	C	T	18	54919273	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.G787A:p.E263K;CCDC68:NM_025214:exon9:c.G787A:p.E263K;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.G787A:p.E263K;ENSG00000166510:ENST00000432185:exon8:c.G787A:p.E263K;ENSG00000166510:ENST00000337363:exon9:c.G787A:p.E263K;	0.00314627968648292	0.224
18	52586606	A	C	18	54919375	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.T685G:p.C229G;CCDC68:NM_025214:exon9:c.T685G:p.C229G;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.T685G:p.C229G;ENSG00000166510:ENST00000432185:exon8:c.T685G:p.C229G;ENSG00000166510:ENST00000337363:exon9:c.T685G:p.C229G;	0.00262098724320144	0.164
18	52586606	A	G	18	54919375	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.T685C:p.C229R;CCDC68:NM_025214:exon9:c.T685C:p.C229R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.T685C:p.C229R;ENSG00000166510:ENST00000432185:exon8:c.T685C:p.C229R;ENSG00000166510:ENST00000337363:exon9:c.T685C:p.C229R;	0.00161836414872699	0.256
18	52586606	A	T	18	54919375	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.T685A:p.C229S;CCDC68:NM_025214:exon9:c.T685A:p.C229S;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.T685A:p.C229S;ENSG00000166510:ENST00000432185:exon8:c.T685A:p.C229S;ENSG00000166510:ENST00000337363:exon9:c.T685A:p.C229S;	0.00971879102311206	0.13
18	52586607	A	C	18	54919376	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.T684G:p.S228R;CCDC68:NM_025214:exon9:c.T684G:p.S228R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.T684G:p.S228R;ENSG00000166510:ENST00000432185:exon8:c.T684G:p.S228R;ENSG00000166510:ENST00000337363:exon9:c.T684G:p.S228R;	5.17945066687043E-5	0.048
18	52586607	A	G	18	54919376	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon9:c.T684C:p.S228S;CCDC68:NM_025214:exon9:c.T684C:p.S228S;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.T684C:p.S228S;ENSG00000166510:ENST00000432185:exon8:c.T684C:p.S228S;ENSG00000166510:ENST00000337363:exon9:c.T684C:p.S228S;	1.34047148064585E-4	0.01
18	52586607	A	T	18	54919376	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon9:c.T684A:p.S228R;CCDC68:NM_025214:exon9:c.T684A:p.S228R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon9:c.T684A:p.S228R;ENSG00000166510:ENST00000432185:exon8:c.T684A:p.S228R;ENSG00000166510:ENST00000337363:exon9:c.T684A:p.S228R;	1.41589561242938E-5	0.006
18	52586608	C	A	18	54919377	y	y	splicing	CCDC68(NM_001143829:exon10:c.684-1G>T;NM_025214:exon10:c.684-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.684-1G>T;ENST00000432185:exon9:c.684-1G>T;ENST00000592040:exon5:c.286-1G>T;ENST00000337363:exon10:c.684-1G>T)	.	.	0.99996469115006	0.908
18	52586608	C	G	18	54919377	y	y	splicing	CCDC68(NM_001143829:exon10:c.684-1G>C;NM_025214:exon10:c.684-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.684-1G>C;ENST00000432185:exon9:c.684-1G>C;ENST00000592040:exon5:c.286-1G>C;ENST00000337363:exon10:c.684-1G>C)	.	.	0.999966603939759	0.888
18	52586608	C	T	18	54919377	y	y	splicing	CCDC68(NM_001143829:exon10:c.684-1G>A;NM_025214:exon10:c.684-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.684-1G>A;ENST00000432185:exon9:c.684-1G>A;ENST00000592040:exon5:c.286-1G>A;ENST00000337363:exon10:c.684-1G>A)	.	.	0.99996469115006	0.91
18	52586609	T	A	18	54919378	y	y	splicing	CCDC68(NM_001143829:exon10:c.684-2A>T;NM_025214:exon10:c.684-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.684-2A>T;ENST00000432185:exon9:c.684-2A>T;ENST00000592040:exon5:c.286-2A>T;ENST00000337363:exon10:c.684-2A>T)	.	.	0.999971317418422	0.89
18	52586609	T	C	18	54919378	y	y	splicing	CCDC68(NM_001143829:exon10:c.684-2A>G;NM_025214:exon10:c.684-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.684-2A>G;ENST00000432185:exon9:c.684-2A>G;ENST00000592040:exon5:c.286-2A>G;ENST00000337363:exon10:c.684-2A>G)	.	.	0.999972871252391	0.864
18	52586609	T	G	18	54919378	y	y	splicing	CCDC68(NM_001143829:exon10:c.684-2A>C;NM_025214:exon10:c.684-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon10:c.684-2A>C;ENST00000432185:exon9:c.684-2A>C;ENST00000592040:exon5:c.286-2A>C;ENST00000337363:exon10:c.684-2A>C)	.	.	0.999972871252391	0.874
18	52586610	G	A	18	54919379	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00248611218425406	0.022
18	52586610	G	C	18	54919379	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999883878773993	0.944
18	52586610	G	T	18	54919379	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.651023600759422	0.632
18	52586611	G	A	18	54919380	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.65530894373304E-5	0.008
18	52586611	G	C	18	54919380	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.27667525349819E-5	0.022
18	52586611	G	T	18	54919380	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.3076808430039E-5	0.02
18	52586612	G	A	18	54919381	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.66658480184942E-5	0.004
18	52586612	G	C	18	54919381	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00307153036752248	0.122
18	52586612	G	T	18	54919381	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00224514266260003	0.058
18	52586613	A	C	18	54919382	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0174374253320937	0.27
18	52586613	A	G	18	54919382	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.17791627358899E-4	0.08
18	52586613	A	T	18	54919382	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0158580266988558	0.274
18	52586614	A	C	18	54919383	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999257833020052	0.99
18	52586614	A	G	18	54919383	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.68837014866078E-5	0.002
18	52586614	A	T	18	54919383	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0930476541875879	0.196
18	52586615	T	A	18	54919384	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.250243698046E-5	0.0
18	52586615	T	C	18	54919384	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.08013551391836E-6	0.006
18	52586615	T	G	18	54919384	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.41351406781139E-5	0.008
18	52586616	G	A	18	54919385	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.23154998997037E-5	0.004
18	52586616	G	C	18	54919385	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00202671843954729	0.068
18	52586616	G	T	18	54919385	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.25455312036686E-4	0.02
18	52586617	C	A	18	54919386	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.03150620259812E-4	0.002
18	52586617	C	G	18	54919386	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.79933569587901E-5	0.002
18	52586617	C	T	18	54919386	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.84385636735699E-4	0.014
18	52586618	A	C	18	54919387	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.2500249866075	0.496
18	52586618	A	G	18	54919387	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00101586713072265	0.084
18	52586618	A	T	18	54919387	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999966224784363	0.966
18	52586619	A	C	18	54919388	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.024857318852403	0.328
18	52586619	A	G	18	54919388	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.53833555228038E-4	0.012
18	52586619	A	T	18	54919388	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0111372306504743	0.296
18	52596023	T	A	18	54928792	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.21599610917379E-5	0.0
18	52596023	T	C	18	54928792	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.13210722668367E-4	0.0
18	52596023	T	G	18	54928792	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.21599610917379E-5	0.0
18	52596024	C	A	18	54928793	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.15079305411352E-5	0.002
18	52596024	C	G	18	54928793	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.58822666340836E-5	0.0
18	52596024	C	T	18	54928793	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.71999322095146E-5	0.002
18	52596025	A	C	18	54928794	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0149120329484133	0.162
18	52596025	A	G	18	54928794	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0970895925629288	0.214
18	52596025	A	T	18	54928794	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.173956101323863	0.296
18	52596026	C	A	18	54928795	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999989576971802	0.952
18	52596026	C	G	18	54928795	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999995308362077	0.996
18	52596026	C	T	18	54928795	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999985379655396	0.942
18	52596027	A	C	18	54928796	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.1785875348404E-4	0.068
18	52596027	A	G	18	54928796	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00975724967189563	0.13
18	52596027	A	T	18	54928796	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.31318915258017E-4	0.068
18	52596028	A	C	18	54928797	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.7009314114572E-4	0.09
18	52596028	A	G	18	54928797	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00178586995953883	0.094
18	52596028	A	T	18	54928797	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.15478112629714E-4	0.092
18	52596029	A	C	18	54928798	y	y	splicing	CCDC68(NM_001143829:exon9:c.683+2T>G;NM_025214:exon9:c.683+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.683+2T>G;ENST00000432185:exon8:c.683+2T>G;ENST00000592040:exon4:c.285+2T>G;ENST00000337363:exon9:c.683+2T>G)	.	.	0.999951957019574	0.876
18	52596029	A	G	18	54928798	y	y	splicing	CCDC68(NM_001143829:exon9:c.683+2T>C;NM_025214:exon9:c.683+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.683+2T>C;ENST00000432185:exon8:c.683+2T>C;ENST00000592040:exon4:c.285+2T>C;ENST00000337363:exon9:c.683+2T>C)	.	.	0.980709411031275	0.632
18	52596029	A	T	18	54928798	y	y	splicing	CCDC68(NM_001143829:exon9:c.683+2T>A;NM_025214:exon9:c.683+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.683+2T>A;ENST00000432185:exon8:c.683+2T>A;ENST00000592040:exon4:c.285+2T>A;ENST00000337363:exon9:c.683+2T>A)	.	.	0.999964896440643	0.912
18	52596030	C	A	18	54928799	y	y	splicing	CCDC68(NM_001143829:exon9:c.683+1G>T;NM_025214:exon9:c.683+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.683+1G>T;ENST00000432185:exon8:c.683+1G>T;ENST00000592040:exon4:c.285+1G>T;ENST00000337363:exon9:c.683+1G>T)	.	.	0.999971209564868	0.914
18	52596030	C	G	18	54928799	y	y	splicing	CCDC68(NM_001143829:exon9:c.683+1G>C;NM_025214:exon9:c.683+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.683+1G>C;ENST00000432185:exon8:c.683+1G>C;ENST00000592040:exon4:c.285+1G>C;ENST00000337363:exon9:c.683+1G>C)	.	.	0.999960597114489	0.872
18	52596030	C	T	18	54928799	y	y	splicing	CCDC68(NM_001143829:exon9:c.683+1G>A;NM_025214:exon9:c.683+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.683+1G>A;ENST00000432185:exon8:c.683+1G>A;ENST00000592040:exon4:c.285+1G>A;ENST00000337363:exon9:c.683+1G>A)	.	.	0.999971209564868	0.914
18	52596031	C	A	18	54928800	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.G683T:p.S228I;CCDC68:NM_025214:exon8:c.G683T:p.S228I;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.G683T:p.S228I;ENSG00000166510:ENST00000432185:exon7:c.G683T:p.S228I;ENSG00000166510:ENST00000337363:exon8:c.G683T:p.S228I;	0.999982340422307	1.0
18	52596031	C	G	18	54928800	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.G683C:p.S228T;CCDC68:NM_025214:exon8:c.G683C:p.S228T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.G683C:p.S228T;ENSG00000166510:ENST00000432185:exon7:c.G683C:p.S228T;ENSG00000166510:ENST00000337363:exon8:c.G683C:p.S228T;	0.999994264024729	0.956
18	52596031	C	T	18	54928800	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.G683A:p.S228N;CCDC68:NM_025214:exon8:c.G683A:p.S228N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.G683A:p.S228N;ENSG00000166510:ENST00000432185:exon7:c.G683A:p.S228N;ENSG00000166510:ENST00000337363:exon8:c.G683A:p.S228N;	0.999964314960463	0.994
18	52596032	T	A	18	54928801	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.A682T:p.S228C;CCDC68:NM_025214:exon8:c.A682T:p.S228C;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A682T:p.S228C;ENSG00000166510:ENST00000432185:exon7:c.A682T:p.S228C;ENSG00000166510:ENST00000337363:exon8:c.A682T:p.S228C;	0.9998827378161	0.998
18	52596032	T	C	18	54928801	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.A682G:p.S228G;CCDC68:NM_025214:exon8:c.A682G:p.S228G;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A682G:p.S228G;ENSG00000166510:ENST00000432185:exon7:c.A682G:p.S228G;ENSG00000166510:ENST00000337363:exon8:c.A682G:p.S228G;	0.989525440163758	0.806
18	52596032	T	G	18	54928801	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.A682C:p.S228R;CCDC68:NM_025214:exon8:c.A682C:p.S228R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A682C:p.S228R;ENSG00000166510:ENST00000432185:exon7:c.A682C:p.S228R;ENSG00000166510:ENST00000337363:exon8:c.A682C:p.S228R;	0.740692270518237	0.504
18	52596033	T	A	18	54928802	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.A681T:p.K227N;CCDC68:NM_025214:exon8:c.A681T:p.K227N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A681T:p.K227N;ENSG00000166510:ENST00000432185:exon7:c.A681T:p.K227N;ENSG00000166510:ENST00000337363:exon8:c.A681T:p.K227N;	0.838878415377301	0.536
18	52596033	T	C	18	54928802	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon8:c.A681G:p.K227K;CCDC68:NM_025214:exon8:c.A681G:p.K227K;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A681G:p.K227K;ENSG00000166510:ENST00000432185:exon7:c.A681G:p.K227K;ENSG00000166510:ENST00000337363:exon8:c.A681G:p.K227K;	0.0064202169794007	0.08
18	52596033	T	G	18	54928802	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.A681C:p.K227N;CCDC68:NM_025214:exon8:c.A681C:p.K227N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A681C:p.K227N;ENSG00000166510:ENST00000432185:exon7:c.A681C:p.K227N;ENSG00000166510:ENST00000337363:exon8:c.A681C:p.K227N;	2.18422675452574E-4	0.004
18	52596112	T	A	18	54928881	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.A602T:p.E201V;CCDC68:NM_025214:exon8:c.A602T:p.E201V;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A602T:p.E201V;ENSG00000166510:ENST00000432185:exon7:c.A602T:p.E201V;ENSG00000166510:ENST00000337363:exon8:c.A602T:p.E201V;	0.880703844143281	0.816
18	52596112	T	C	18	54928881	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.A602G:p.E201G;CCDC68:NM_025214:exon8:c.A602G:p.E201G;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A602G:p.E201G;ENSG00000166510:ENST00000432185:exon7:c.A602G:p.E201G;ENSG00000166510:ENST00000337363:exon8:c.A602G:p.E201G;	0.908551359352199	0.784
18	52596112	T	G	18	54928881	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.A602C:p.E201A;CCDC68:NM_025214:exon8:c.A602C:p.E201A;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.A602C:p.E201A;ENSG00000166510:ENST00000432185:exon7:c.A602C:p.E201A;ENSG00000166510:ENST00000337363:exon8:c.A602C:p.E201A;	0.911241947060991	0.836
18	52596113	C	A	18	54928882	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon8:c.G601T:p.E201X;CCDC68:NM_025214:exon8:c.G601T:p.E201X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon8:c.G601T:p.E201X;ENSG00000166510:ENST00000432185:exon7:c.G601T:p.E201X;ENSG00000166510:ENST00000337363:exon8:c.G601T:p.E201X;	0.99990354946404	0.958
18	52596113	C	G	18	54928882	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.G601C:p.E201Q;CCDC68:NM_025214:exon8:c.G601C:p.E201Q;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.G601C:p.E201Q;ENSG00000166510:ENST00000432185:exon7:c.G601C:p.E201Q;ENSG00000166510:ENST00000337363:exon8:c.G601C:p.E201Q;	0.999836630794946	0.908
18	52596113	C	T	18	54928882	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon8:c.G601A:p.E201K;CCDC68:NM_025214:exon8:c.G601A:p.E201K;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon8:c.G601A:p.E201K;ENSG00000166510:ENST00000432185:exon7:c.G601A:p.E201K;ENSG00000166510:ENST00000337363:exon8:c.G601A:p.E201K;	0.997873062586847	0.936
18	52596114	C	A	18	54928883	y	y	splicing	CCDC68(NM_001143829:exon9:c.601-1G>T;NM_025214:exon9:c.601-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.601-1G>T;ENST00000432185:exon8:c.601-1G>T;ENST00000592040:exon4:c.203-1G>T;ENST00000337363:exon9:c.601-1G>T)	.	.	0.999990361384395	0.938
18	52596114	C	G	18	54928883	y	y	splicing	CCDC68(NM_001143829:exon9:c.601-1G>C;NM_025214:exon9:c.601-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.601-1G>C;ENST00000432185:exon8:c.601-1G>C;ENST00000592040:exon4:c.203-1G>C;ENST00000337363:exon9:c.601-1G>C)	.	.	0.999990361384395	0.938
18	52596114	C	T	18	54928883	y	y	splicing	CCDC68(NM_001143829:exon9:c.601-1G>A;NM_025214:exon9:c.601-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.601-1G>A;ENST00000432185:exon8:c.601-1G>A;ENST00000592040:exon4:c.203-1G>A;ENST00000337363:exon9:c.601-1G>A)	.	.	0.999990361384395	0.938
18	52596115	T	A	18	54928884	y	y	splicing	CCDC68(NM_001143829:exon9:c.601-2A>T;NM_025214:exon9:c.601-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.601-2A>T;ENST00000432185:exon8:c.601-2A>T;ENST00000592040:exon4:c.203-2A>T;ENST00000337363:exon9:c.601-2A>T)	.	.	0.999988247793601	0.932
18	52596115	T	C	18	54928884	y	y	splicing	CCDC68(NM_001143829:exon9:c.601-2A>G;NM_025214:exon9:c.601-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.601-2A>G;ENST00000432185:exon8:c.601-2A>G;ENST00000592040:exon4:c.203-2A>G;ENST00000337363:exon9:c.601-2A>G)	.	.	0.999988247793601	0.932
18	52596115	T	G	18	54928884	y	y	splicing	CCDC68(NM_001143829:exon9:c.601-2A>C;NM_025214:exon9:c.601-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon9:c.601-2A>C;ENST00000432185:exon8:c.601-2A>C;ENST00000592040:exon4:c.203-2A>C;ENST00000337363:exon9:c.601-2A>C)	.	.	0.999988247793601	0.932
18	52596116	A	C	18	54928885	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999574387740821	0.932
18	52596116	A	G	18	54928885	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0144074788055963	0.2
18	52596116	A	T	18	54928885	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.98721066032967	0.694
18	52596117	G	A	18	54928886	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00316249171116241	0.054
18	52596117	G	C	18	54928886	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00382074837424109	0.068
18	52596117	G	T	18	54928886	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00349512810077732	0.044
18	52596118	G	A	18	54928887	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.64526560328462E-5	0.0
18	52596118	G	C	18	54928887	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.57474712612275E-4	0.044
18	52596118	G	T	18	54928887	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.99345918354643E-4	0.03
18	52596119	A	C	18	54928888	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0202197343176545	0.136
18	52596119	A	G	18	54928888	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.65379907786637E-4	0.02
18	52596119	A	T	18	54928888	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00486057985561887	0.048
18	52596120	G	A	18	54928889	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.65291802260188E-4	0.0
18	52596120	G	C	18	54928889	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00122662562750081	0.056
18	52596120	G	T	18	54928889	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00257014930135161	0.076
18	52596121	A	C	18	54928890	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00262328010693926	0.058
18	52596121	A	G	18	54928890	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.97515292476363E-4	0.018
18	52596121	A	T	18	54928890	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0114296323443961	0.102
18	52596122	A	C	18	54928891	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00381694576045198	0.218
18	52596122	A	G	18	54928891	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00135360962587032	0.128
18	52596122	A	T	18	54928891	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00554510390717983	0.204
18	52596123	A	C	18	54928892	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00364787845748345	0.19
18	52596123	A	G	18	54928892	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00236775615348371	0.086
18	52596123	A	T	18	54928892	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0084700314704375	0.23
18	52596124	A	C	18	54928893	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999349790239977	0.882
18	52596124	A	G	18	54928893	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0032437583091183	0.062
18	52596124	A	T	18	54928893	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00653998235384627	0.258
18	52596125	T	A	18	54928894	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.27263434370782E-5	0.0
18	52596125	T	C	18	54928894	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.80641837401515E-5	0.012
18	52596125	T	G	18	54928894	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.11414853771829E-5	0.0
18	52602043	G	A	18	54934812	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.45659892879814E-6	0.002
18	52602043	G	C	18	54934812	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.45659892879814E-6	0.0
18	52602043	G	T	18	54934812	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.45659892879814E-6	0.0
18	52602044	G	A	18	54934813	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.34286128546387E-5	0.002
18	52602044	G	C	18	54934813	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.93383793620967E-5	0.0
18	52602044	G	T	18	54934813	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.636184177587E-5	0.0
18	52602045	G	A	18	54934814	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.13152715042624E-5	0.006
18	52602045	G	C	18	54934814	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.64979688603288E-5	0.022
18	52602045	G	T	18	54934814	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.41386282014296E-5	0.032
18	52602046	C	A	18	54934815	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.768921008797713	0.434
18	52602046	C	G	18	54934815	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.20504657352396	0.418
18	52602046	C	T	18	54934815	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.430273304942443	0.43
18	52602047	G	A	18	54934816	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.66146068282113E-5	0.058
18	52602047	G	C	18	54934816	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.67599672339899E-5	0.032
18	52602047	G	T	18	54934816	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.54098694281674E-5	0.018
18	52602048	T	A	18	54934817	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.978040290214187	0.71
18	52602048	T	C	18	54934817	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00585081272518953	0.322
18	52602048	T	G	18	54934817	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.939389054138413	0.754
18	52602049	A	C	18	54934818	y	y	splicing	CCDC68(NM_001143829:exon8:c.600+2T>G;NM_025214:exon8:c.600+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.600+2T>G;ENST00000432185:exon7:c.600+2T>G;ENST00000592040:exon3:c.202+2T>G;ENST00000337363:exon8:c.600+2T>G)	.	.	0.999969255906173	0.866
18	52602049	A	G	18	54934818	y	y	splicing	CCDC68(NM_001143829:exon8:c.600+2T>C;NM_025214:exon8:c.600+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.600+2T>C;ENST00000432185:exon7:c.600+2T>C;ENST00000592040:exon3:c.202+2T>C;ENST00000337363:exon8:c.600+2T>C)	.	.	0.949026161646829	0.554
18	52602049	A	T	18	54934818	y	y	splicing	CCDC68(NM_001143829:exon8:c.600+2T>A;NM_025214:exon8:c.600+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.600+2T>A;ENST00000432185:exon7:c.600+2T>A;ENST00000592040:exon3:c.202+2T>A;ENST00000337363:exon8:c.600+2T>A)	.	.	0.999972871252391	0.876
18	52602050	C	A	18	54934819	y	y	splicing	CCDC68(NM_001143829:exon8:c.600+1G>T;NM_025214:exon8:c.600+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.600+1G>T;ENST00000432185:exon7:c.600+1G>T;ENST00000592040:exon3:c.202+1G>T;ENST00000337363:exon8:c.600+1G>T)	.	.	0.999955485601963	0.904
18	52602050	C	G	18	54934819	y	y	splicing	CCDC68(NM_001143829:exon8:c.600+1G>C;NM_025214:exon8:c.600+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.600+1G>C;ENST00000432185:exon7:c.600+1G>C;ENST00000592040:exon3:c.202+1G>C;ENST00000337363:exon8:c.600+1G>C)	.	.	0.999955485601963	0.902
18	52602050	C	T	18	54934819	y	y	splicing	CCDC68(NM_001143829:exon8:c.600+1G>A;NM_025214:exon8:c.600+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.600+1G>A;ENST00000432185:exon7:c.600+1G>A;ENST00000592040:exon3:c.202+1G>A;ENST00000337363:exon8:c.600+1G>A)	.	.	0.999955485601963	0.904
18	52602051	C	A	18	54934820	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.G600T:p.K200N;CCDC68:NM_025214:exon7:c.G600T:p.K200N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.G600T:p.K200N;ENSG00000166510:ENST00000432185:exon6:c.G600T:p.K200N;ENSG00000166510:ENST00000337363:exon7:c.G600T:p.K200N;	0.996175717279125	0.9
18	52602051	C	G	18	54934820	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.G600C:p.K200N;CCDC68:NM_025214:exon7:c.G600C:p.K200N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.G600C:p.K200N;ENSG00000166510:ENST00000432185:exon6:c.G600C:p.K200N;ENSG00000166510:ENST00000337363:exon7:c.G600C:p.K200N;	0.994097341069866	0.746
18	52602051	C	T	18	54934820	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon7:c.G600A:p.K200K;CCDC68:NM_025214:exon7:c.G600A:p.K200K;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.G600A:p.K200K;ENSG00000166510:ENST00000432185:exon6:c.G600A:p.K200K;ENSG00000166510:ENST00000337363:exon7:c.G600A:p.K200K;	0.992412150893751	0.936
18	52602052	T	A	18	54934821	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.A599T:p.K200M;CCDC68:NM_025214:exon7:c.A599T:p.K200M;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.A599T:p.K200M;ENSG00000166510:ENST00000432185:exon6:c.A599T:p.K200M;ENSG00000166510:ENST00000337363:exon7:c.A599T:p.K200M;	0.996484158799159	0.96
18	52602052	T	C	18	54934821	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.A599G:p.K200R;CCDC68:NM_025214:exon7:c.A599G:p.K200R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.A599G:p.K200R;ENSG00000166510:ENST00000432185:exon6:c.A599G:p.K200R;ENSG00000166510:ENST00000337363:exon7:c.A599G:p.K200R;	0.894402453175063	0.656
18	52602052	T	G	18	54934821	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.A599C:p.K200T;CCDC68:NM_025214:exon7:c.A599C:p.K200T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.A599C:p.K200T;ENSG00000166510:ENST00000432185:exon6:c.A599C:p.K200T;ENSG00000166510:ENST00000337363:exon7:c.A599C:p.K200T;	0.585838657503078	0.732
18	52602053	T	A	18	54934822	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon7:c.A598T:p.K200X;CCDC68:NM_025214:exon7:c.A598T:p.K200X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon7:c.A598T:p.K200X;ENSG00000166510:ENST00000432185:exon6:c.A598T:p.K200X;ENSG00000166510:ENST00000337363:exon7:c.A598T:p.K200X;	0.00964264681732073	0.388
18	52602053	T	C	18	54934822	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.A598G:p.K200E;CCDC68:NM_025214:exon7:c.A598G:p.K200E;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.A598G:p.K200E;ENSG00000166510:ENST00000432185:exon6:c.A598G:p.K200E;ENSG00000166510:ENST00000337363:exon7:c.A598G:p.K200E;	1.07904378464132E-4	0.002
18	52602053	T	G	18	54934822	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.A598C:p.K200Q;CCDC68:NM_025214:exon7:c.A598C:p.K200Q;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.A598C:p.K200Q;ENSG00000166510:ENST00000432185:exon6:c.A598C:p.K200Q;ENSG00000166510:ENST00000337363:exon7:c.A598C:p.K200Q;	7.01866912553789E-5	0.0
18	52602178	A	C	18	54934947	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.T473G:p.V158G;CCDC68:NM_025214:exon7:c.T473G:p.V158G;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.T473G:p.V158G;ENSG00000166510:ENST00000432185:exon6:c.T473G:p.V158G;ENSG00000166510:ENST00000337363:exon7:c.T473G:p.V158G;	0.0270670797210983	0.158
18	52602178	A	G	18	54934947	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.T473C:p.V158A;CCDC68:NM_025214:exon7:c.T473C:p.V158A;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.T473C:p.V158A;ENSG00000166510:ENST00000432185:exon6:c.T473C:p.V158A;ENSG00000166510:ENST00000337363:exon7:c.T473C:p.V158A;	0.00380882749442568	0.14
18	52602178	A	T	18	54934947	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.T473A:p.V158D;CCDC68:NM_025214:exon7:c.T473A:p.V158D;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.T473A:p.V158D;ENSG00000166510:ENST00000432185:exon6:c.T473A:p.V158D;ENSG00000166510:ENST00000337363:exon7:c.T473A:p.V158D;	0.0302710349889463	0.144
18	52602179	C	A	18	54934948	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.G472T:p.V158F;CCDC68:NM_025214:exon7:c.G472T:p.V158F;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.G472T:p.V158F;ENSG00000166510:ENST00000432185:exon6:c.G472T:p.V158F;ENSG00000166510:ENST00000337363:exon7:c.G472T:p.V158F;	0.99961474227296	0.968
18	52602179	C	G	18	54934948	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.G472C:p.V158L;CCDC68:NM_025214:exon7:c.G472C:p.V158L;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.G472C:p.V158L;ENSG00000166510:ENST00000432185:exon6:c.G472C:p.V158L;ENSG00000166510:ENST00000337363:exon7:c.G472C:p.V158L;	0.963951587275653	0.794
18	52602179	C	T	18	54934948	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon7:c.G472A:p.V158I;CCDC68:NM_025214:exon7:c.G472A:p.V158I;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon7:c.G472A:p.V158I;ENSG00000166510:ENST00000432185:exon6:c.G472A:p.V158I;ENSG00000166510:ENST00000337363:exon7:c.G472A:p.V158I;	0.0648075701254754	0.318
18	52602180	C	A	18	54934949	y	y	splicing	CCDC68(NM_001143829:exon8:c.472-1G>T;NM_025214:exon8:c.472-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.472-1G>T;ENST00000432185:exon7:c.472-1G>T;ENST00000592040:exon3:c.74-1G>T;ENST00000337363:exon8:c.472-1G>T)	.	.	0.999986675681007	0.94
18	52602180	C	G	18	54934949	y	y	splicing	CCDC68(NM_001143829:exon8:c.472-1G>C;NM_025214:exon8:c.472-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.472-1G>C;ENST00000432185:exon7:c.472-1G>C;ENST00000592040:exon3:c.74-1G>C;ENST00000337363:exon8:c.472-1G>C)	.	.	0.999976137096505	0.942
18	52602180	C	T	18	54934949	y	y	splicing	CCDC68(NM_001143829:exon8:c.472-1G>A;NM_025214:exon8:c.472-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.472-1G>A;ENST00000432185:exon7:c.472-1G>A;ENST00000592040:exon3:c.74-1G>A;ENST00000337363:exon8:c.472-1G>A)	.	.	0.999986675681007	0.94
18	52602181	T	A	18	54934950	y	y	splicing	CCDC68(NM_001143829:exon8:c.472-2A>T;NM_025214:exon8:c.472-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.472-2A>T;ENST00000432185:exon7:c.472-2A>T;ENST00000592040:exon3:c.74-2A>T;ENST00000337363:exon8:c.472-2A>T)	.	.	0.999986903042585	0.928
18	52602181	T	C	18	54934950	y	y	splicing	CCDC68(NM_001143829:exon8:c.472-2A>G;NM_025214:exon8:c.472-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.472-2A>G;ENST00000432185:exon7:c.472-2A>G;ENST00000592040:exon3:c.74-2A>G;ENST00000337363:exon8:c.472-2A>G)	.	.	0.999966203349492	0.926
18	52602181	T	G	18	54934950	y	y	splicing	CCDC68(NM_001143829:exon8:c.472-2A>C;NM_025214:exon8:c.472-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon8:c.472-2A>C;ENST00000432185:exon7:c.472-2A>C;ENST00000592040:exon3:c.74-2A>C;ENST00000337363:exon8:c.472-2A>C)	.	.	0.999966203349492	0.926
18	52602182	A	C	18	54934951	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.950849215707609	0.698
18	52602182	A	G	18	54934951	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.2073866941478E-4	0.01
18	52602182	A	T	18	54934951	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0362272834192996	0.344
18	52602183	T	A	18	54934952	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.02852918023028E-4	0.03
18	52602183	T	C	18	54934952	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.63088573180964E-5	0.046
18	52602183	T	G	18	54934952	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.00441606972594E-5	0.01
18	52602184	G	A	18	54934953	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.03807133738397E-4	0.028
18	52602184	G	C	18	54934953	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0229215763977334	0.134
18	52602184	G	T	18	54934953	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0268775932876148	0.136
18	52602185	G	A	18	54934954	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.94607787352035E-5	0.05
18	52602185	G	C	18	54934954	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.998992067456024	0.95
18	52602185	G	T	18	54934954	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00171843183970426	0.258
18	52602186	T	A	18	54934955	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00306877405237247	0.04
18	52602186	T	C	18	54934955	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00802156372123926	0.034
18	52602186	T	G	18	54934955	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00450792860715374	0.04
18	52602187	C	A	18	54934956	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.95351440948441E-4	0.002
18	52602187	C	G	18	54934956	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.72153096900238E-4	0.008
18	52602187	C	T	18	54934956	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.33878965000979E-4	0.034
18	52602188	A	C	18	54934957	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.993727864486308	0.852
18	52602188	A	G	18	54934957	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0208167959747876	0.084
18	52602188	A	T	18	54934957	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999961260368352	0.984
18	52602189	G	A	18	54934958	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0044945220109376	0.026
18	52602189	G	C	18	54934958	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0971131425693084	0.358
18	52602189	G	T	18	54934958	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.604258189672326	0.4
18	52602190	A	C	18	54934959	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.603988144974203	0.476
18	52602190	A	G	18	54934959	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00289332888712061	0.124
18	52602190	A	T	18	54934959	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.764393674718454	0.494
18	52602191	G	A	18	54934960	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.14146540862719E-6	0.0
18	52602191	G	C	18	54934960	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.50667754700257E-4	0.044
18	52602191	G	T	18	54934960	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.50675500977794E-4	0.022
18	52604056	T	A	18	54936825	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.9090502887029E-5	0.006
18	52604056	T	C	18	54936825	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.80001350009886E-5	0.004
18	52604056	T	G	18	54936825	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.9090502887029E-5	0.002
18	52604057	T	A	18	54936826	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.19472440968208E-5	0.004
18	52604057	T	C	18	54936826	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.19494522952089E-5	0.002
18	52604057	T	G	18	54936826	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.19472440968208E-5	0.002
18	52604058	T	A	18	54936827	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.09683613270232E-4	0.016
18	52604058	T	C	18	54936827	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.35484337855706E-4	0.004
18	52604058	T	G	18	54936827	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.21273984547909E-4	0.028
18	52604059	G	A	18	54936828	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.80596606734125E-5	0.004
18	52604059	G	C	18	54936828	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.34985645325442E-5	0.008
18	52604059	G	T	18	54936828	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.77726296440511E-5	0.022
18	52604060	G	A	18	54936829	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00178842165460544	0.042
18	52604060	G	C	18	54936829	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.003714285047471	0.098
18	52604060	G	T	18	54936829	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.29454367406525E-4	0.154
18	52604061	T	A	18	54936830	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999857007290292	0.948
18	52604061	T	C	18	54936830	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.966096953262374	0.708
18	52604061	T	G	18	54936830	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999858328795366	0.942
18	52604062	A	C	18	54936831	y	y	splicing	CCDC68(NM_001143829:exon7:c.471+2T>G;NM_025214:exon7:c.471+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.471+2T>G;ENST00000432185:exon6:c.471+2T>G;ENST00000592040:exon2:c.73+2T>G;ENST00000337363:exon7:c.471+2T>G)	.	.	0.999972155025474	0.87
18	52604062	A	G	18	54936831	y	y	splicing	CCDC68(NM_001143829:exon7:c.471+2T>C;NM_025214:exon7:c.471+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.471+2T>C;ENST00000432185:exon6:c.471+2T>C;ENST00000592040:exon2:c.73+2T>C;ENST00000337363:exon7:c.471+2T>C)	.	.	0.961777995982684	0.56
18	52604062	A	T	18	54936831	y	y	splicing	CCDC68(NM_001143829:exon7:c.471+2T>A;NM_025214:exon7:c.471+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.471+2T>A;ENST00000432185:exon6:c.471+2T>A;ENST00000592040:exon2:c.73+2T>A;ENST00000337363:exon7:c.471+2T>A)	.	.	0.999972871252391	0.886
18	52604063	C	A	18	54936832	y	y	splicing	CCDC68(NM_001143829:exon7:c.471+1G>T;NM_025214:exon7:c.471+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.471+1G>T;ENST00000432185:exon6:c.471+1G>T;ENST00000592040:exon2:c.73+1G>T;ENST00000337363:exon7:c.471+1G>T)	.	.	0.999974107838956	0.822
18	52604063	C	G	18	54936832	y	y	splicing	CCDC68(NM_001143829:exon7:c.471+1G>C;NM_025214:exon7:c.471+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.471+1G>C;ENST00000432185:exon6:c.471+1G>C;ENST00000592040:exon2:c.73+1G>C;ENST00000337363:exon7:c.471+1G>C)	.	.	0.999974107838956	0.864
18	52604063	C	T	18	54936832	y	y	splicing	CCDC68(NM_001143829:exon7:c.471+1G>A;NM_025214:exon7:c.471+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.471+1G>A;ENST00000432185:exon6:c.471+1G>A;ENST00000592040:exon2:c.73+1G>A;ENST00000337363:exon7:c.471+1G>A)	.	.	0.999973328973086	0.884
18	52604064	C	A	18	54936833	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.G471T:p.Q157H;CCDC68:NM_025214:exon6:c.G471T:p.Q157H;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.G471T:p.Q157H;ENSG00000166510:ENST00000432185:exon5:c.G471T:p.Q157H;ENSG00000166510:ENST00000337363:exon6:c.G471T:p.Q157H;	0.99997263135258	0.998
18	52604064	C	G	18	54936833	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.G471C:p.Q157H;CCDC68:NM_025214:exon6:c.G471C:p.Q157H;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.G471C:p.Q157H;ENSG00000166510:ENST00000432185:exon5:c.G471C:p.Q157H;ENSG00000166510:ENST00000337363:exon6:c.G471C:p.Q157H;	0.999987549104651	0.998
18	52604064	C	T	18	54936833	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon6:c.G471A:p.Q157Q;CCDC68:NM_025214:exon6:c.G471A:p.Q157Q;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.G471A:p.Q157Q;ENSG00000166510:ENST00000432185:exon5:c.G471A:p.Q157Q;ENSG00000166510:ENST00000337363:exon6:c.G471A:p.Q157Q;	0.999986133615949	0.976
18	52604065	T	A	18	54936834	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.A470T:p.Q157L;CCDC68:NM_025214:exon6:c.A470T:p.Q157L;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.A470T:p.Q157L;ENSG00000166510:ENST00000432185:exon5:c.A470T:p.Q157L;ENSG00000166510:ENST00000337363:exon6:c.A470T:p.Q157L;	0.998010686910022	0.882
18	52604065	T	C	18	54936834	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.A470G:p.Q157R;CCDC68:NM_025214:exon6:c.A470G:p.Q157R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.A470G:p.Q157R;ENSG00000166510:ENST00000432185:exon5:c.A470G:p.Q157R;ENSG00000166510:ENST00000337363:exon6:c.A470G:p.Q157R;	0.997361005018963	0.976
18	52604065	T	G	18	54936834	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.A470C:p.Q157P;CCDC68:NM_025214:exon6:c.A470C:p.Q157P;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.A470C:p.Q157P;ENSG00000166510:ENST00000432185:exon5:c.A470C:p.Q157P;ENSG00000166510:ENST00000337363:exon6:c.A470C:p.Q157P;	0.999059285279035	0.994
18	52604066	G	A	18	54936835	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon6:c.C469T:p.Q157X;CCDC68:NM_025214:exon6:c.C469T:p.Q157X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon6:c.C469T:p.Q157X;ENSG00000166510:ENST00000432185:exon5:c.C469T:p.Q157X;ENSG00000166510:ENST00000337363:exon6:c.C469T:p.Q157X;	0.978770826038432	0.86
18	52604066	G	C	18	54936835	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.C469G:p.Q157E;CCDC68:NM_025214:exon6:c.C469G:p.Q157E;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.C469G:p.Q157E;ENSG00000166510:ENST00000432185:exon5:c.C469G:p.Q157E;ENSG00000166510:ENST00000337363:exon6:c.C469G:p.Q157E;	0.00230453472052794	0.186
18	52604066	G	T	18	54936835	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.C469A:p.Q157K;CCDC68:NM_025214:exon6:c.C469A:p.Q157K;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.C469A:p.Q157K;ENSG00000166510:ENST00000432185:exon5:c.C469A:p.Q157K;ENSG00000166510:ENST00000337363:exon6:c.C469A:p.Q157K;	1.18093242405564E-4	0.008
18	52604188	A	C	18	54936957	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.T347G:p.L116R;CCDC68:NM_025214:exon6:c.T347G:p.L116R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.T347G:p.L116R;ENSG00000166510:ENST00000432185:exon5:c.T347G:p.L116R;ENSG00000166510:ENST00000337363:exon6:c.T347G:p.L116R;	0.787191480604834	0.446
18	52604188	A	G	18	54936957	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.T347C:p.L116P;CCDC68:NM_025214:exon6:c.T347C:p.L116P;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.T347C:p.L116P;ENSG00000166510:ENST00000432185:exon5:c.T347C:p.L116P;ENSG00000166510:ENST00000337363:exon6:c.T347C:p.L116P;	0.828477577283611	0.498
18	52604188	A	T	18	54936957	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.T347A:p.L116Q;CCDC68:NM_025214:exon6:c.T347A:p.L116Q;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.T347A:p.L116Q;ENSG00000166510:ENST00000432185:exon5:c.T347A:p.L116Q;ENSG00000166510:ENST00000337363:exon6:c.T347A:p.L116Q;	0.877790167601579	0.504
18	52604189	G	A	18	54936958	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon6:c.C346T:p.L116L;CCDC68:NM_025214:exon6:c.C346T:p.L116L;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.C346T:p.L116L;ENSG00000166510:ENST00000432185:exon5:c.C346T:p.L116L;ENSG00000166510:ENST00000337363:exon6:c.C346T:p.L116L;	0.0139049746076532	0.148
18	52604189	G	C	18	54936958	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.C346G:p.L116V;CCDC68:NM_025214:exon6:c.C346G:p.L116V;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.C346G:p.L116V;ENSG00000166510:ENST00000432185:exon5:c.C346G:p.L116V;ENSG00000166510:ENST00000337363:exon6:c.C346G:p.L116V;	0.00106937362669981	0.096
18	52604189	G	T	18	54936958	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.C346A:p.L116M;CCDC68:NM_025214:exon6:c.C346A:p.L116M;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon6:c.C346A:p.L116M;ENSG00000166510:ENST00000432185:exon5:c.C346A:p.L116M;ENSG00000166510:ENST00000337363:exon6:c.C346A:p.L116M;	0.0182474563066948	0.292
18	52604190	C	A	18	54936959	y	y	splicing	CCDC68(NM_001143829:exon7:c.346-1G>T;NM_025214:exon7:c.346-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.346-1G>T;ENST00000432185:exon6:c.346-1G>T;ENST00000337363:exon7:c.346-1G>T)	.	.	0.999990361384395	0.938
18	52604190	C	G	18	54936959	y	y	splicing	CCDC68(NM_001143829:exon7:c.346-1G>C;NM_025214:exon7:c.346-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.346-1G>C;ENST00000432185:exon6:c.346-1G>C;ENST00000337363:exon7:c.346-1G>C)	.	.	0.999990361384395	0.938
18	52604190	C	T	18	54936959	y	y	splicing	CCDC68(NM_001143829:exon7:c.346-1G>A;NM_025214:exon7:c.346-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.346-1G>A;ENST00000432185:exon6:c.346-1G>A;ENST00000337363:exon7:c.346-1G>A)	.	.	0.999990361384395	0.938
18	52604191	T	A	18	54936960	y	y	splicing	CCDC68(NM_001143829:exon7:c.346-2A>T;NM_025214:exon7:c.346-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.346-2A>T;ENST00000432185:exon6:c.346-2A>T;ENST00000337363:exon7:c.346-2A>T)	.	.	0.999988247793601	0.932
18	52604191	T	C	18	54936960	y	y	splicing	CCDC68(NM_001143829:exon7:c.346-2A>G;NM_025214:exon7:c.346-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.346-2A>G;ENST00000432185:exon6:c.346-2A>G;ENST00000337363:exon7:c.346-2A>G)	.	.	0.999988247793601	0.93
18	52604191	T	G	18	54936960	y	y	splicing	CCDC68(NM_001143829:exon7:c.346-2A>C;NM_025214:exon7:c.346-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon7:c.346-2A>C;ENST00000432185:exon6:c.346-2A>C;ENST00000337363:exon7:c.346-2A>C)	.	.	0.999988247793601	0.93
18	52604192	A	C	18	54936961	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.998927461194419	0.754
18	52604192	A	G	18	54936961	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.59416972798924E-5	0.032
18	52604192	A	T	18	54936961	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0611854873246637	0.392
18	52604193	G	A	18	54936962	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.48601288347842E-4	0.0
18	52604193	G	C	18	54936962	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.35795185702819E-4	0.004
18	52604193	G	T	18	54936962	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.88443619868356E-4	0.002
18	52604194	A	C	18	54936963	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.305241624012721	0.454
18	52604194	A	G	18	54936963	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.44946721087129E-4	0.202
18	52604194	A	T	18	54936963	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.32827999764641	0.482
18	52604195	A	C	18	54936964	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.660288763335862	0.504
18	52604195	A	G	18	54936964	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.28613973058684E-5	0.0
18	52604195	A	T	18	54936964	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.204083029796318	0.37
18	52604196	A	C	18	54936965	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.3586074026941E-4	0.128
18	52604196	A	G	18	54936965	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.32338457476342E-5	0.002
18	52604196	A	T	18	54936965	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00156930516558736	0.034
18	52604197	A	C	18	54936966	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.066403641360932	0.356
18	52604197	A	G	18	54936966	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.5446077515904E-4	0.014
18	52604197	A	T	18	54936966	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0857208192775279	0.322
18	52604198	A	C	18	54936967	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0181773665576144	0.116
18	52604198	A	G	18	54936967	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.39041218587692E-4	0.044
18	52604198	A	T	18	54936967	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00893230751137586	0.106
18	52604199	A	C	18	54936968	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.118216727743598	0.39
18	52604199	A	G	18	54936968	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.63658647395841E-4	0.028
18	52604199	A	T	18	54936968	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.881249981533425	0.544
18	52604200	G	A	18	54936969	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.04737572979891E-5	0.0
18	52604200	G	C	18	54936969	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.08879883912389E-4	0.026
18	52604200	G	T	18	54936969	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.677491675185E-5	0.044
18	52604201	G	A	18	54936970	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.63852870172974E-5	0.016
18	52604201	G	C	18	54936970	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999776939732179	0.954
18	52604201	G	T	18	54936970	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.59507183845601E-4	0.076
18	52605180	A	C	18	54937949	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.1485369245795E-5	0.0
18	52605180	A	G	18	54937949	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.49334910072372E-5	0.0
18	52605180	A	T	18	54937949	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.7586829694842E-5	0.0
18	52605181	G	A	18	54937950	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.01614000672326E-4	0.002
18	52605181	G	C	18	54937950	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.92264913498259E-5	0.002
18	52605181	G	T	18	54937950	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.30307028751707E-5	0.0
18	52605182	T	A	18	54937951	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.06991407477597E-5	0.0
18	52605182	T	C	18	54937951	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.82675887024857E-5	0.0
18	52605182	T	G	18	54937951	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.69895851675206E-5	0.012
18	52605183	C	A	18	54937952	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.901839387419531	0.512
18	52605183	C	G	18	54937952	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.84056046355949	0.54
18	52605183	C	T	18	54937952	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.463364094663565	0.492
18	52605184	A	C	18	54937953	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.01545291572401E-5	0.002
18	52605184	A	G	18	54937953	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.41225835101484E-5	0.0
18	52605184	A	T	18	54937953	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.98383603005345E-5	0.018
18	52605185	T	A	18	54937954	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.947107205219644	0.59
18	52605185	T	C	18	54937954	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.270755865555842	0.442
18	52605185	T	G	18	54937954	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.97516961244995	0.604
18	52605186	A	C	18	54937955	y	y	splicing	CCDC68(NM_001143829:exon6:c.345+2T>G;NM_025214:exon6:c.345+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.345+2T>G;ENST00000432185:exon5:c.345+2T>G;ENST00000337363:exon6:c.345+2T>G)	.	.	0.999946188727699	0.94
18	52605186	A	G	18	54937955	y	y	splicing	CCDC68(NM_001143829:exon6:c.345+2T>C;NM_025214:exon6:c.345+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.345+2T>C;ENST00000432185:exon5:c.345+2T>C;ENST00000337363:exon6:c.345+2T>C)	.	.	0.95755789858141	0.624
18	52605186	A	T	18	54937955	y	y	splicing	CCDC68(NM_001143829:exon6:c.345+2T>A;NM_025214:exon6:c.345+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.345+2T>A;ENST00000432185:exon5:c.345+2T>A;ENST00000337363:exon6:c.345+2T>A)	.	.	0.999946188727699	0.944
18	52605187	C	A	18	54937956	y	y	splicing	CCDC68(NM_001143829:exon6:c.345+1G>T;NM_025214:exon6:c.345+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.345+1G>T;ENST00000432185:exon5:c.345+1G>T;ENST00000337363:exon6:c.345+1G>T)	.	.	0.99993314117114	0.926
18	52605187	C	G	18	54937956	y	y	splicing	CCDC68(NM_001143829:exon6:c.345+1G>C;NM_025214:exon6:c.345+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.345+1G>C;ENST00000432185:exon5:c.345+1G>C;ENST00000337363:exon6:c.345+1G>C)	.	.	0.99993314117114	0.934
18	52605187	C	T	18	54937956	y	y	splicing	CCDC68(NM_001143829:exon6:c.345+1G>A;NM_025214:exon6:c.345+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.345+1G>A;ENST00000432185:exon5:c.345+1G>A;ENST00000337363:exon6:c.345+1G>A)	.	.	0.99993314117114	0.932
18	52605188	C	A	18	54937957	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.G345T:p.K115N;CCDC68:NM_025214:exon5:c.G345T:p.K115N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.G345T:p.K115N;ENSG00000166510:ENST00000432185:exon4:c.G345T:p.K115N;ENSG00000166510:ENST00000337363:exon5:c.G345T:p.K115N;	0.999984235417759	0.998
18	52605188	C	G	18	54937957	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.G345C:p.K115N;CCDC68:NM_025214:exon5:c.G345C:p.K115N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.G345C:p.K115N;ENSG00000166510:ENST00000432185:exon4:c.G345C:p.K115N;ENSG00000166510:ENST00000337363:exon5:c.G345C:p.K115N;	0.99999760961569	0.998
18	52605188	C	T	18	54937957	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon5:c.G345A:p.K115K;CCDC68:NM_025214:exon5:c.G345A:p.K115K;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.G345A:p.K115K;ENSG00000166510:ENST00000432185:exon4:c.G345A:p.K115K;ENSG00000166510:ENST00000337363:exon5:c.G345A:p.K115K;	0.999656688765282	0.99
18	52605189	T	A	18	54937958	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.A344T:p.K115M;CCDC68:NM_025214:exon5:c.A344T:p.K115M;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.A344T:p.K115M;ENSG00000166510:ENST00000432185:exon4:c.A344T:p.K115M;ENSG00000166510:ENST00000337363:exon5:c.A344T:p.K115M;	0.999309714024034	0.962
18	52605189	T	C	18	54937958	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.A344G:p.K115R;CCDC68:NM_025214:exon5:c.A344G:p.K115R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.A344G:p.K115R;ENSG00000166510:ENST00000432185:exon4:c.A344G:p.K115R;ENSG00000166510:ENST00000337363:exon5:c.A344G:p.K115R;	0.999302668639173	0.966
18	52605189	T	G	18	54937958	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.A344C:p.K115T;CCDC68:NM_025214:exon5:c.A344C:p.K115T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.A344C:p.K115T;ENSG00000166510:ENST00000432185:exon4:c.A344C:p.K115T;ENSG00000166510:ENST00000337363:exon5:c.A344C:p.K115T;	0.992776375726858	0.934
18	52605190	T	A	18	54937959	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon5:c.A343T:p.K115X;CCDC68:NM_025214:exon5:c.A343T:p.K115X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon5:c.A343T:p.K115X;ENSG00000166510:ENST00000432185:exon4:c.A343T:p.K115X;ENSG00000166510:ENST00000337363:exon5:c.A343T:p.K115X;	0.952192852283734	0.73
18	52605190	T	C	18	54937959	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.A343G:p.K115E;CCDC68:NM_025214:exon5:c.A343G:p.K115E;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.A343G:p.K115E;ENSG00000166510:ENST00000432185:exon4:c.A343G:p.K115E;ENSG00000166510:ENST00000337363:exon5:c.A343G:p.K115E;	0.228440259546872	0.456
18	52605190	T	G	18	54937959	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.A343C:p.K115Q;CCDC68:NM_025214:exon5:c.A343C:p.K115Q;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.A343C:p.K115Q;ENSG00000166510:ENST00000432185:exon4:c.A343C:p.K115Q;ENSG00000166510:ENST00000337363:exon5:c.A343C:p.K115Q;	0.610370808545065	0.566
18	52605327	T	A	18	54938096	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.A206T:p.H69L;CCDC68:NM_025214:exon5:c.A206T:p.H69L;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.A206T:p.H69L;ENSG00000166510:ENST00000432185:exon4:c.A206T:p.H69L;ENSG00000166510:ENST00000337363:exon5:c.A206T:p.H69L;	6.44607401617003E-6	0.0
18	52605327	T	C	18	54938096	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.A206G:p.H69R;CCDC68:NM_025214:exon5:c.A206G:p.H69R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.A206G:p.H69R;ENSG00000166510:ENST00000432185:exon4:c.A206G:p.H69R;ENSG00000166510:ENST00000337363:exon5:c.A206G:p.H69R;	1.30511036914676E-5	0.016
18	52605327	T	G	18	54938096	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.A206C:p.H69P;CCDC68:NM_025214:exon5:c.A206C:p.H69P;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.A206C:p.H69P;ENSG00000166510:ENST00000432185:exon4:c.A206C:p.H69P;ENSG00000166510:ENST00000337363:exon5:c.A206C:p.H69P;	4.6255251424413E-5	0.002
18	52605328	G	A	18	54938097	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.C205T:p.H69Y;CCDC68:NM_025214:exon5:c.C205T:p.H69Y;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.C205T:p.H69Y;ENSG00000166510:ENST00000432185:exon4:c.C205T:p.H69Y;ENSG00000166510:ENST00000337363:exon5:c.C205T:p.H69Y;	1.63745424425606E-4	0.026
18	52605328	G	C	18	54938097	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.C205G:p.H69D;CCDC68:NM_025214:exon5:c.C205G:p.H69D;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.C205G:p.H69D;ENSG00000166510:ENST00000432185:exon4:c.C205G:p.H69D;ENSG00000166510:ENST00000337363:exon5:c.C205G:p.H69D;	4.74718244195687E-4	0.07
18	52605328	G	T	18	54938097	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon5:c.C205A:p.H69N;CCDC68:NM_025214:exon5:c.C205A:p.H69N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon5:c.C205A:p.H69N;ENSG00000166510:ENST00000432185:exon4:c.C205A:p.H69N;ENSG00000166510:ENST00000337363:exon5:c.C205A:p.H69N;	3.4070750605552E-5	0.0
18	52605329	C	A	18	54938098	y	y	splicing	CCDC68(NM_001143829:exon6:c.205-1G>T;NM_025214:exon6:c.205-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.205-1G>T;ENST00000432185:exon5:c.205-1G>T;ENST00000337363:exon6:c.205-1G>T)	.	.	0.999962153403958	0.864
18	52605329	C	G	18	54938098	y	y	splicing	CCDC68(NM_001143829:exon6:c.205-1G>C;NM_025214:exon6:c.205-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.205-1G>C;ENST00000432185:exon5:c.205-1G>C;ENST00000337363:exon6:c.205-1G>C)	.	.	0.999954401362567	0.862
18	52605329	C	T	18	54938098	y	y	splicing	CCDC68(NM_001143829:exon6:c.205-1G>A;NM_025214:exon6:c.205-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.205-1G>A;ENST00000432185:exon5:c.205-1G>A;ENST00000337363:exon6:c.205-1G>A)	.	.	0.999962153403958	0.878
18	52605330	T	A	18	54938099	y	y	splicing	CCDC68(NM_001143829:exon6:c.205-2A>T;NM_025214:exon6:c.205-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.205-2A>T;ENST00000432185:exon5:c.205-2A>T;ENST00000337363:exon6:c.205-2A>T)	.	.	0.999969255906173	0.862
18	52605330	T	C	18	54938099	y	y	splicing	CCDC68(NM_001143829:exon6:c.205-2A>G;NM_025214:exon6:c.205-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.205-2A>G;ENST00000432185:exon5:c.205-2A>G;ENST00000337363:exon6:c.205-2A>G)	.	.	0.999969712949741	0.84
18	52605330	T	G	18	54938099	y	y	splicing	CCDC68(NM_001143829:exon6:c.205-2A>C;NM_025214:exon6:c.205-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon6:c.205-2A>C;ENST00000432185:exon5:c.205-2A>C;ENST00000337363:exon6:c.205-2A>C)	.	.	0.999969712949741	0.84
18	52605331	G	A	18	54938100	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00268995336880417	0.044
18	52605331	G	C	18	54938100	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999696986425461	0.922
18	52605331	G	T	18	54938100	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.553283094131528	0.514
18	52605332	A	C	18	54938101	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.10723522244731E-4	0.002
18	52605332	A	G	18	54938101	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.58975000819958E-5	0.006
18	52605332	A	T	18	54938101	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.87207868929071E-4	0.0
18	52605333	A	C	18	54938102	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.931800209178274	0.458
18	52605333	A	G	18	54938102	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0160542381221272	0.164
18	52605333	A	T	18	54938102	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.929260336956037	0.44
18	52605334	A	C	18	54938103	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.332822744128664	0.494
18	52605334	A	G	18	54938103	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00174029937015976	0.076
18	52605334	A	T	18	54938103	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.525876627763273	0.52
18	52605335	C	A	18	54938104	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.84275610127688E-5	0.0
18	52605335	C	G	18	54938104	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.08340154904926E-5	0.002
18	52605335	C	T	18	54938104	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.65464499585008E-4	0.002
18	52605336	G	A	18	54938105	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.43079942879631E-6	0.0
18	52605336	G	C	18	54938105	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.94982771043635E-4	0.026
18	52605336	G	T	18	54938105	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.981478974468938	0.926
18	52605337	G	A	18	54938106	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.51554455884963E-5	0.0
18	52605337	G	C	18	54938106	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.15225629637132E-4	0.008
18	52605337	G	T	18	54938106	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.50068134321363E-4	0.012
18	52605338	A	C	18	54938107	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.408805629485719	0.538
18	52605338	A	G	18	54938107	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00285439179715117	0.062
18	52605338	A	T	18	54938107	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.440585805422944	0.5
18	52605339	C	A	18	54938108	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.56234718474791E-5	0.0
18	52605339	C	G	18	54938108	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.29344185670577E-5	0.0
18	52605339	C	T	18	54938108	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.2335231190193E-5	0.0
18	52605340	A	C	18	54938109	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.483432981541065	0.516
18	52605340	A	G	18	54938109	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00107702279429294	0.052
18	52605340	A	T	18	54938109	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999946280504546	0.97
18	52608220	A	C	18	54940989	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.36609048951252E-5	0.006
18	52608220	A	G	18	54940989	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.15496494694927E-5	0.008
18	52608220	A	T	18	54940989	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.1554741010953E-5	0.0
18	52608221	T	A	18	54940990	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.18574478698458E-5	0.046
18	52608221	T	C	18	54940990	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.02290104906615E-5	0.038
18	52608221	T	G	18	54940990	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.71081436872022E-5	0.012
18	52608222	T	A	18	54940991	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.14034247166703E-5	0.028
18	52608222	T	C	18	54940991	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.02570916384277E-5	0.004
18	52608222	T	G	18	54940991	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.32727398219093E-5	0.022
18	52608223	A	C	18	54940992	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.4150859595609E-4	0.118
18	52608223	A	G	18	54940992	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.82545051019583E-4	0.012
18	52608223	A	T	18	54940992	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.59089890132909E-4	0.006
18	52608224	T	A	18	54940993	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.512910169851052	0.458
18	52608224	T	C	18	54940993	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.681315121919701	0.512
18	52608224	T	G	18	54940993	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.121665173437761	0.344
18	52608225	T	A	18	54940994	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999688549036399	0.938
18	52608225	T	C	18	54940994	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.985425114738387	0.45
18	52608225	T	G	18	54940994	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999895262924795	0.95
18	52608226	A	C	18	54940995	y	y	splicing	CCDC68(NM_001143829:exon5:c.204+2T>G;NM_025214:exon5:c.204+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.204+2T>G;ENST00000432185:exon4:c.204+2T>G;ENST00000337363:exon5:c.204+2T>G)	.	.	0.999982151912279	0.888
18	52608226	A	G	18	54940995	y	y	splicing	CCDC68(NM_001143829:exon5:c.204+2T>C;NM_025214:exon5:c.204+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.204+2T>C;ENST00000432185:exon4:c.204+2T>C;ENST00000337363:exon5:c.204+2T>C)	.	.	0.97563265876445	0.57
18	52608226	A	T	18	54940995	y	y	splicing	CCDC68(NM_001143829:exon5:c.204+2T>A;NM_025214:exon5:c.204+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.204+2T>A;ENST00000432185:exon4:c.204+2T>A;ENST00000337363:exon5:c.204+2T>A)	.	.	0.999970104448312	0.864
18	52608227	C	A	18	54940996	y	y	splicing	CCDC68(NM_001143829:exon5:c.204+1G>T;NM_025214:exon5:c.204+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.204+1G>T;ENST00000432185:exon4:c.204+1G>T;ENST00000337363:exon5:c.204+1G>T)	.	.	0.999955485601963	0.912
18	52608227	C	G	18	54940996	y	y	splicing	CCDC68(NM_001143829:exon5:c.204+1G>C;NM_025214:exon5:c.204+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.204+1G>C;ENST00000432185:exon4:c.204+1G>C;ENST00000337363:exon5:c.204+1G>C)	.	.	0.999955485601963	0.912
18	52608227	C	T	18	54940996	y	y	splicing	CCDC68(NM_001143829:exon5:c.204+1G>A;NM_025214:exon5:c.204+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.204+1G>A;ENST00000432185:exon4:c.204+1G>A;ENST00000337363:exon5:c.204+1G>A)	.	.	0.999925439713521	0.91
18	52608228	C	A	18	54940997	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.G204T:p.K68N;CCDC68:NM_025214:exon4:c.G204T:p.K68N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.G204T:p.K68N;ENSG00000166510:ENST00000432185:exon3:c.G204T:p.K68N;ENSG00000166510:ENST00000337363:exon4:c.G204T:p.K68N;	0.999969013605002	0.964
18	52608228	C	G	18	54940997	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.G204C:p.K68N;CCDC68:NM_025214:exon4:c.G204C:p.K68N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.G204C:p.K68N;ENSG00000166510:ENST00000432185:exon3:c.G204C:p.K68N;ENSG00000166510:ENST00000337363:exon4:c.G204C:p.K68N;	0.999984366249244	0.994
18	52608228	C	T	18	54940997	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon4:c.G204A:p.K68K;CCDC68:NM_025214:exon4:c.G204A:p.K68K;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.G204A:p.K68K;ENSG00000166510:ENST00000432185:exon3:c.G204A:p.K68K;ENSG00000166510:ENST00000337363:exon4:c.G204A:p.K68K;	0.999964962098458	0.998
18	52608229	T	A	18	54940998	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.A203T:p.K68M;CCDC68:NM_025214:exon4:c.A203T:p.K68M;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.A203T:p.K68M;ENSG00000166510:ENST00000432185:exon3:c.A203T:p.K68M;ENSG00000166510:ENST00000337363:exon4:c.A203T:p.K68M;	0.989211220835445	0.806
18	52608229	T	C	18	54940998	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.A203G:p.K68R;CCDC68:NM_025214:exon4:c.A203G:p.K68R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.A203G:p.K68R;ENSG00000166510:ENST00000432185:exon3:c.A203G:p.K68R;ENSG00000166510:ENST00000337363:exon4:c.A203G:p.K68R;	0.986189454634722	0.814
18	52608229	T	G	18	54940998	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.A203C:p.K68T;CCDC68:NM_025214:exon4:c.A203C:p.K68T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.A203C:p.K68T;ENSG00000166510:ENST00000432185:exon3:c.A203C:p.K68T;ENSG00000166510:ENST00000337363:exon4:c.A203C:p.K68T;	0.69315231896601	0.56
18	52608230	T	A	18	54940999	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon4:c.A202T:p.K68X;CCDC68:NM_025214:exon4:c.A202T:p.K68X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon4:c.A202T:p.K68X;ENSG00000166510:ENST00000432185:exon3:c.A202T:p.K68X;ENSG00000166510:ENST00000337363:exon4:c.A202T:p.K68X;	0.63047590509957	0.484
18	52608230	T	C	18	54940999	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.A202G:p.K68E;CCDC68:NM_025214:exon4:c.A202G:p.K68E;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.A202G:p.K68E;ENSG00000166510:ENST00000432185:exon3:c.A202G:p.K68E;ENSG00000166510:ENST00000337363:exon4:c.A202G:p.K68E;	8.12877364164625E-5	0.004
18	52608230	T	G	18	54940999	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.A202C:p.K68Q;CCDC68:NM_025214:exon4:c.A202C:p.K68Q;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.A202C:p.K68Q;ENSG00000166510:ENST00000432185:exon3:c.A202C:p.K68Q;ENSG00000166510:ENST00000337363:exon4:c.A202C:p.K68Q;	1.72970218345092E-4	0.002
18	52608313	A	C	18	54941082	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.T119G:p.I40S;CCDC68:NM_025214:exon4:c.T119G:p.I40S;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.T119G:p.I40S;ENSG00000166510:ENST00000432185:exon3:c.T119G:p.I40S;ENSG00000166510:ENST00000337363:exon4:c.T119G:p.I40S;	0.234457563027659	0.442
18	52608313	A	G	18	54941082	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.T119C:p.I40T;CCDC68:NM_025214:exon4:c.T119C:p.I40T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.T119C:p.I40T;ENSG00000166510:ENST00000432185:exon3:c.T119C:p.I40T;ENSG00000166510:ENST00000337363:exon4:c.T119C:p.I40T;	0.186519059869766	0.416
18	52608313	A	T	18	54941082	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.T119A:p.I40N;CCDC68:NM_025214:exon4:c.T119A:p.I40N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.T119A:p.I40N;ENSG00000166510:ENST00000432185:exon3:c.T119A:p.I40N;ENSG00000166510:ENST00000337363:exon4:c.T119A:p.I40N;	0.275413056351918	0.406
18	52608314	T	A	18	54941083	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.A118T:p.I40F;CCDC68:NM_025214:exon4:c.A118T:p.I40F;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.A118T:p.I40F;ENSG00000166510:ENST00000432185:exon3:c.A118T:p.I40F;ENSG00000166510:ENST00000337363:exon4:c.A118T:p.I40F;	0.314538886357737	0.504
18	52608314	T	C	18	54941083	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.A118G:p.I40V;CCDC68:NM_025214:exon4:c.A118G:p.I40V;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.A118G:p.I40V;ENSG00000166510:ENST00000432185:exon3:c.A118G:p.I40V;ENSG00000166510:ENST00000337363:exon4:c.A118G:p.I40V;	0.00130572495247257	0.006
18	52608314	T	G	18	54941083	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon4:c.A118C:p.I40L;CCDC68:NM_025214:exon4:c.A118C:p.I40L;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon4:c.A118C:p.I40L;ENSG00000166510:ENST00000432185:exon3:c.A118C:p.I40L;ENSG00000166510:ENST00000337363:exon4:c.A118C:p.I40L;	0.0206681867119828	0.164
18	52608315	C	A	18	54941084	y	y	splicing	CCDC68(NM_001143829:exon5:c.118-1G>T;NM_025214:exon5:c.118-1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.118-1G>T;ENST00000432185:exon4:c.118-1G>T;ENST00000337363:exon5:c.118-1G>T)	.	.	0.999965722254998	0.884
18	52608315	C	G	18	54941084	y	y	splicing	CCDC68(NM_001143829:exon5:c.118-1G>C;NM_025214:exon5:c.118-1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.118-1G>C;ENST00000432185:exon4:c.118-1G>C;ENST00000337363:exon5:c.118-1G>C)	.	.	0.999962153403958	0.878
18	52608315	C	T	18	54941084	y	y	splicing	CCDC68(NM_001143829:exon5:c.118-1G>A;NM_025214:exon5:c.118-1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.118-1G>A;ENST00000432185:exon4:c.118-1G>A;ENST00000337363:exon5:c.118-1G>A)	.	.	0.999965722254998	0.87
18	52608316	T	A	18	54941085	y	y	splicing	CCDC68(NM_001143829:exon5:c.118-2A>T;NM_025214:exon5:c.118-2A>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.118-2A>T;ENST00000432185:exon4:c.118-2A>T;ENST00000337363:exon5:c.118-2A>T)	.	.	0.999962958601995	0.838
18	52608316	T	C	18	54941085	y	y	splicing	CCDC68(NM_001143829:exon5:c.118-2A>G;NM_025214:exon5:c.118-2A>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.118-2A>G;ENST00000432185:exon4:c.118-2A>G;ENST00000337363:exon5:c.118-2A>G)	.	.	0.999962958601995	0.8
18	52608316	T	G	18	54941085	y	y	splicing	CCDC68(NM_001143829:exon5:c.118-2A>C;NM_025214:exon5:c.118-2A>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon5:c.118-2A>C;ENST00000432185:exon4:c.118-2A>C;ENST00000337363:exon5:c.118-2A>C)	.	.	0.999962958601995	0.8
18	52608317	A	C	18	54941086	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.969135137918612	0.68
18	52608317	A	G	18	54941086	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.02516202946664E-4	0.026
18	52608317	A	T	18	54941086	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0124666346519668	0.154
18	52608318	G	A	18	54941087	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.20798194209895E-5	0.0
18	52608318	G	C	18	54941087	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.67742663150209E-5	0.0
18	52608318	G	T	18	54941087	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.79493542211649E-5	0.0
18	52608319	A	C	18	54941088	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.21394549604251E-4	0.108
18	52608319	A	G	18	54941088	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.88350795188744E-5	0.0
18	52608319	A	T	18	54941088	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.70573131332913E-4	0.088
18	52608320	G	A	18	54941089	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.49232542599698E-5	0.122
18	52608320	G	C	18	54941089	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.2737694550419E-4	0.102
18	52608320	G	T	18	54941089	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.10571510425169E-4	0.072
18	52608321	A	C	18	54941090	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.42139902640382E-5	0.054
18	52608321	A	G	18	54941090	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.27345139874721E-5	0.032
18	52608321	A	T	18	54941090	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.42139902640382E-5	0.056
18	52608322	A	C	18	54941091	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.11992580114231E-5	0.092
18	52608322	A	G	18	54941091	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.38487009131455E-5	0.12
18	52608322	A	T	18	54941091	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.02706200824177E-5	0.074
18	52608323	G	A	18	54941092	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.58150250244176E-5	0.042
18	52608323	G	C	18	54941092	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.20807362181988E-5	0.052
18	52608323	G	T	18	54941092	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.29396718942085E-5	0.026
18	52608324	G	A	18	54941093	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.58456363669678E-5	0.0
18	52608324	G	C	18	54941093	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.15942950152574E-5	0.018
18	52608324	G	T	18	54941093	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.29756627126171E-5	0.008
18	52608325	A	C	18	54941094	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.64504405152014E-5	0.128
18	52608325	A	G	18	54941094	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.59420020353217E-5	0.064
18	52608325	A	T	18	54941094	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00115331681406997	0.288
18	52608326	A	C	18	54941095	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.86804229698449E-5	0.094
18	52608326	A	G	18	54941095	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.44816280309837E-5	0.008
18	52608326	A	T	18	54941095	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.17311170610955E-5	0.08
18	52609898	C	A	18	54942667	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.23888596527552E-5	0.0
18	52609898	C	G	18	54942667	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.23888596527552E-5	0.0
18	52609898	C	T	18	54942667	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.69112205380959E-5	0.01
18	52609899	C	A	18	54942668	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.98946793018657E-5	0.016
18	52609899	C	G	18	54942668	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.7965968951775E-5	0.008
18	52609899	C	T	18	54942668	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.7965968951775E-5	0.032
18	52609900	A	C	18	54942669	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.70643623557669E-4	0.224
18	52609900	A	G	18	54942669	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.36818933359147E-4	0.342
18	52609900	A	T	18	54942669	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.61526013636914E-4	0.284
18	52609901	C	A	18	54942670	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.283131752094451	0.392
18	52609901	C	G	18	54942670	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.338230989081726	0.426
18	52609901	C	T	18	54942670	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.135603730297025	0.324
18	52609902	A	C	18	54942671	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.22033028702352E-5	0.002
18	52609902	A	G	18	54942671	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.31993250237149E-6	0.0
18	52609902	A	T	18	54942671	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.71257979493136E-5	0.018
18	52609903	T	A	18	54942672	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.900226105308299	0.518
18	52609903	T	C	18	54942672	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.105052001469729	0.536
18	52609903	T	G	18	54942672	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.968500202225713	0.678
18	52609904	A	C	18	54942673	y	y	splicing	CCDC68(NM_001143829:exon4:c.117+2T>G;NM_025214:exon4:c.117+2T>G)	.	.	splicing	ENSG00000166510(ENST00000591504:exon4:c.117+2T>G;ENST00000432185:exon3:c.117+2T>G;ENST00000337363:exon4:c.117+2T>G)	.	.	0.999978952611685	0.932
18	52609904	A	G	18	54942673	y	y	splicing	CCDC68(NM_001143829:exon4:c.117+2T>C;NM_025214:exon4:c.117+2T>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon4:c.117+2T>C;ENST00000432185:exon3:c.117+2T>C;ENST00000337363:exon4:c.117+2T>C)	.	.	0.986061207776931	0.678
18	52609904	A	T	18	54942673	y	y	splicing	CCDC68(NM_001143829:exon4:c.117+2T>A;NM_025214:exon4:c.117+2T>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon4:c.117+2T>A;ENST00000432185:exon3:c.117+2T>A;ENST00000337363:exon4:c.117+2T>A)	.	.	0.999988247793601	0.93
18	52609905	C	A	18	54942674	y	y	splicing	CCDC68(NM_001143829:exon4:c.117+1G>T;NM_025214:exon4:c.117+1G>T)	.	.	splicing	ENSG00000166510(ENST00000591504:exon4:c.117+1G>T;ENST00000432185:exon3:c.117+1G>T;ENST00000337363:exon4:c.117+1G>T)	.	.	0.999990361384395	0.938
18	52609905	C	G	18	54942674	y	y	splicing	CCDC68(NM_001143829:exon4:c.117+1G>C;NM_025214:exon4:c.117+1G>C)	.	.	splicing	ENSG00000166510(ENST00000591504:exon4:c.117+1G>C;ENST00000432185:exon3:c.117+1G>C;ENST00000337363:exon4:c.117+1G>C)	.	.	0.999990361384395	0.938
18	52609905	C	T	18	54942674	y	y	splicing	CCDC68(NM_001143829:exon4:c.117+1G>A;NM_025214:exon4:c.117+1G>A)	.	.	splicing	ENSG00000166510(ENST00000591504:exon4:c.117+1G>A;ENST00000432185:exon3:c.117+1G>A;ENST00000337363:exon4:c.117+1G>A)	.	.	0.999990361384395	0.938
18	52609906	C	A	18	54942675	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon3:c.G117T:p.K39N;CCDC68:NM_025214:exon3:c.G117T:p.K39N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon3:c.G117T:p.K39N;ENSG00000166510:ENST00000432185:exon2:c.G117T:p.K39N;ENSG00000166510:ENST00000337363:exon3:c.G117T:p.K39N;	0.999987936048158	0.994
18	52609906	C	G	18	54942675	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon3:c.G117C:p.K39N;CCDC68:NM_025214:exon3:c.G117C:p.K39N;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon3:c.G117C:p.K39N;ENSG00000166510:ENST00000432185:exon2:c.G117C:p.K39N;ENSG00000166510:ENST00000337363:exon3:c.G117C:p.K39N;	0.999984894464015	0.984
18	52609906	C	T	18	54942675	y	y	exonic	CCDC68	synonymous SNV	CCDC68:NM_001143829:exon3:c.G117A:p.K39K;CCDC68:NM_025214:exon3:c.G117A:p.K39K;	exonic	ENSG00000166510	synonymous SNV	ENSG00000166510:ENST00000591504:exon3:c.G117A:p.K39K;ENSG00000166510:ENST00000432185:exon2:c.G117A:p.K39K;ENSG00000166510:ENST00000337363:exon3:c.G117A:p.K39K;	0.999252527384754	0.878
18	52609907	T	A	18	54942676	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon3:c.A116T:p.K39M;CCDC68:NM_025214:exon3:c.A116T:p.K39M;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon3:c.A116T:p.K39M;ENSG00000166510:ENST00000432185:exon2:c.A116T:p.K39M;ENSG00000166510:ENST00000337363:exon3:c.A116T:p.K39M;	0.436045723957219	0.572
18	52609907	T	C	18	54942676	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon3:c.A116G:p.K39R;CCDC68:NM_025214:exon3:c.A116G:p.K39R;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon3:c.A116G:p.K39R;ENSG00000166510:ENST00000432185:exon2:c.A116G:p.K39R;ENSG00000166510:ENST00000337363:exon3:c.A116G:p.K39R;	0.753173864301905	0.592
18	52609907	T	G	18	54942676	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon3:c.A116C:p.K39T;CCDC68:NM_025214:exon3:c.A116C:p.K39T;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon3:c.A116C:p.K39T;ENSG00000166510:ENST00000432185:exon2:c.A116C:p.K39T;ENSG00000166510:ENST00000337363:exon3:c.A116C:p.K39T;	0.121783379612698	0.518
18	52609908	T	A	18	54942677	y	y	exonic	CCDC68	stopgain SNV	CCDC68:NM_001143829:exon3:c.A115T:p.K39X;CCDC68:NM_025214:exon3:c.A115T:p.K39X;	exonic	ENSG00000166510	stopgain SNV	ENSG00000166510:ENST00000591504:exon3:c.A115T:p.K39X;ENSG00000166510:ENST00000432185:exon2:c.A115T:p.K39X;ENSG00000166510:ENST00000337363:exon3:c.A115T:p.K39X;	0.322077638419786	0.52
18	52609908	T	C	18	54942677	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon3:c.A115G:p.K39E;CCDC68:NM_025214:exon3:c.A115G:p.K39E;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon3:c.A115G:p.K39E;ENSG00000166510:ENST00000432185:exon2:c.A115G:p.K39E;ENSG00000166510:ENST00000337363:exon3:c.A115G:p.K39E;	6.71373991882408E-4	0.016
18	52609908	T	G	18	54942677	y	y	exonic	CCDC68	nonsynonymous SNV	CCDC68:NM_001143829:exon3:c.A115C:p.K39Q;CCDC68:NM_025214:exon3:c.A115C:p.K39Q;	exonic	ENSG00000166510	nonsynonymous SNV	ENSG00000166510:ENST00000591504:exon3:c.A115C:p.K39Q;ENSG00000166510:ENST00000432185:exon2:c.A115C:p.K39Q;ENSG00000166510:ENST00000337363:exon3:c.A115C:p.K39Q;	5.74595662446698E-4	0.016
18	52610029	T	A	18	54942798	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.83007578356366E-5	0.002
18	52610029	T	C	18	54942798	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.40447878472689E-5	0.006
18	52610029	T	G	18	54942798	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	7.68277275773282E-5	0.012
18	52610030	T	A	18	54942799	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.1674636343488E-4	0.064
18	52610030	T	C	18	54942799	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	9.21264930950259E-5	0.0
18	52610030	T	G	18	54942799	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	4.44035339612294E-5	0.0
18	52610031	C	A	18	54942800	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.00904043485221625	0.164
18	52610031	C	G	18	54942800	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.00904043485221625	0.162
18	52610031	C	T	18	54942800	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.0080100676160981	0.166
18	52610032	T	A	18	54942801	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	1.62107375940829E-5	0.0
18	52610032	T	C	18	54942801	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	3.37606839763118E-5	0.07
18	52610032	T	G	18	54942801	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	8.26864584399628E-6	0.006
18	52610033	G	A	18	54942802	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	4.24550461796131E-5	0.01
18	52610033	G	C	18	54942802	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.97814612566312E-5	0.064
18	52610033	G	T	18	54942802	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.97430498658168E-5	0.056
18	52610034	G	A	18	54942803	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.22812110567973E-4	0.102
18	52610034	G	C	18	54942803	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	7.00574646090579E-5	0.07
18	52610034	G	T	18	54942803	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.42502588932031E-5	0.004
18	52610035	C	A	18	54942804	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.995158813922671	0.342
18	52610035	C	G	18	54942804	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.995158813922671	0.34
18	52610035	C	T	18	54942804	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.995158813922671	0.344
18	52610036	T	A	18	54942805	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999364547736411	0.544
18	52610036	T	C	18	54942805	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999089639390373	0.522
18	52610036	T	G	18	54942805	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999089639390373	0.536
18	52610037	T	A	18	54942806	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.48519883531696E-5	0.0
18	52610037	T	C	18	54942806	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.0409542541659975	0.338
18	52610037	T	G	18	54942806	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	4.7525534743779E-5	0.032
18	52610038	T	A	18	54942807	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.84826237248895E-5	0.024
18	52610038	T	C	18	54942807	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.0135444635855E-4	0.036
18	52610038	T	G	18	54942807	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.64643903663144E-4	0.068
18	52610039	A	C	18	54942808	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.756349991625608	0.47
18	52610039	A	G	18	54942808	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.06731374339718E-4	0.154
18	52610039	A	T	18	54942808	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.0302287016772171	0.48
18	52610040	G	A	18	54942809	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.08581805545584E-5	0.018
18	52610040	G	C	18	54942809	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.00265850372442714	0.26
18	52610040	G	T	18	54942809	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	9.07303791760182E-4	0.248
18	52610041	G	A	18	54942810	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.15753265547432E-5	0.0
18	52610041	G	C	18	54942810	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.00763355955246011	0.128
18	52610041	G	T	18	54942810	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.0159903888960044	0.174
18	52610042	A	C	18	54942811	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.00527133938481334	0.428
18	52610042	A	G	18	54942811	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.41089722807155E-5	0.026
18	52610042	A	T	18	54942811	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.0081709200496862	0.342
18	52610043	A	C	18	54942812	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.0201803520241542	0.47
18	52610043	A	G	18	54942812	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	9.71813173023158E-4	0.142
18	52610043	A	T	18	54942812	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.0707181430786134	0.496
18	52610044	A	C	18	54942813	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.0223044825803519	0.402
18	52610044	A	G	18	54942813	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.00167959161182825	0.082
18	52610044	A	T	18	54942813	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.0861723807206162	0.384
18	52610045	A	C	18	54942814	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.364011041656038	0.488
18	52610045	A	G	18	54942814	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.00578238019070207	0.192
18	52610045	A	T	18	54942814	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.893245894689137	0.528
18	52610046	C	A	18	54942815	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.40932781952129E-5	0.004
18	52610046	C	G	18	54942815	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.54001141081048E-5	0.004
18	52610046	C	T	18	54942815	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.10697744125225E-4	0.004
18	52612611	T	A	18	54945380	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.05567792764038E-5	0.0
18	52612611	T	C	18	54945380	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.26396727142317E-5	0.004
18	52612611	T	G	18	54945380	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.31671506638536E-5	0.0
18	52612612	A	C	18	54945381	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.67864951622834E-4	0.002
18	52612612	A	G	18	54945381	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.67864951622834E-4	0.002
18	52612612	A	T	18	54945381	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.67864951622834E-4	0.002
18	52612613	A	C	18	54945382	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	9.70260380808319E-4	0.04
18	52612613	A	G	18	54945382	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00262093096564975	0.046
18	52612613	A	T	18	54945382	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00403153789043283	0.05
18	52612614	C	A	18	54945383	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.896948078343764	0.536
18	52612614	C	G	18	54945383	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.968136010824099	0.71
18	52612614	C	T	18	54945383	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.942820810624835	0.63
18	52612615	T	A	18	54945384	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.723742265450536	0.486
18	52612615	T	C	18	54945384	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.899191652546532	0.588
18	52612615	T	G	18	54945384	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.445428881685334	0.508
18	52612616	T	A	18	54945385	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.998434293559406	0.794
18	52612616	T	C	18	54945385	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0042020761412646	0.128
18	52612616	T	G	18	54945385	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.996386024251489	0.82
18	52612617	A	C	18	54945386	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.99998406902479	0.842
18	52612617	A	G	18	54945386	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.938001935667096	0.558
18	52612617	A	T	18	54945386	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.99998382861657	0.86
18	52612618	C	A	18	54945387	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999814500365738	0.738
18	52612618	C	G	18	54945387	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999831961687528	0.742
18	52612618	C	T	18	54945387	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999814500365738	0.74
18	52612619	C	A	18	54945388	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.68484426916495	0.666
18	52612619	C	G	18	54945388	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.484959045476572	0.712
18	52612619	C	T	18	54945388	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.385006167899474	0.588
18	52612620	C	A	18	54945389	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.95033131633174E-4	0.002
18	52612620	C	G	18	54945389	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.04387186550655E-5	0.006
18	52612620	C	T	18	54945389	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.11214460964628E-5	0.004
18	52612621	A	C	18	54945390	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.25355399426891E-5	0.024
18	52612621	A	G	18	54945390	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	9.05007148473829E-6	0.0
18	52612621	A	T	18	54945390	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	7.35521675309274E-6	0.0
18	52612707	C	A	18	54945476	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	4.23971996260896E-4	0.016
18	52612707	C	G	18	54945476	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.17082398766672E-4	0.028
18	52612707	C	T	18	54945476	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.51049339423088E-4	0.042
18	52612708	C	A	18	54945477	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.124413503643502	0.458
18	52612708	C	G	18	54945477	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.00486685425874695	0.252
18	52612708	C	T	18	54945477	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.00285086996247333	0.168
18	52612709	C	A	18	54945478	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999951701316767	0.876
18	52612709	C	G	18	54945478	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999946672743932	0.856
18	52612709	C	T	18	54945478	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999951701316767	0.856
18	52612710	T	A	18	54945479	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999869753223382	0.838
18	52612710	T	C	18	54945479	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999869753223382	0.804
18	52612710	T	G	18	54945479	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999869753223382	0.804
18	52612711	G	A	18	54945480	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.69008292245599E-4	0.028
18	52612711	G	C	18	54945480	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.991476769850782	0.626
18	52612711	G	T	18	54945480	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0808030213016829	0.332
18	52612712	G	A	18	54945481	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.89266692519992E-5	0.0
18	52612712	G	C	18	54945481	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.64685862793216E-5	0.0
18	52612712	G	T	18	54945481	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.78032865907106E-5	0.0
18	52612713	A	C	18	54945482	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00219314300764134	0.19
18	52612713	A	G	18	54945482	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.40690384488701E-4	0.004
18	52612713	A	T	18	54945482	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00144344994276487	0.21
18	52612714	G	A	18	54945483	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.60745993545955E-5	0.0
18	52612714	G	C	18	54945483	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00279948468546284	0.086
18	52612714	G	T	18	54945483	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00217799653914043	0.104
18	52612715	A	C	18	54945484	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.03287564165738E-4	0.028
18	52612715	A	G	18	54945484	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.14120755989179E-5	0.0
18	52612715	A	T	18	54945484	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.15387678391544E-4	0.078
18	52612716	G	A	18	54945485	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.3568048807646E-5	0.0
18	52612716	G	C	18	54945485	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.60891259527388E-5	0.02
18	52612716	G	T	18	54945485	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.68839558460514E-4	0.022
18	52612717	A	C	18	54945486	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.51611033582495E-4	0.092
18	52612717	A	G	18	54945486	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.50110688628713E-4	0.022
18	52612717	A	T	18	54945486	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00190727503526866	0.112
18	52612718	A	C	18	54945487	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00493423797782636	0.172
18	52612718	A	G	18	54945487	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00230845989125583	0.034
18	52612718	A	T	18	54945487	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0283234304346194	0.228
18	52612719	A	C	18	54945488	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0115967077537718	0.284
18	52612719	A	G	18	54945488	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00694043996522653	0.086
18	52612719	A	T	18	54945488	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0305914116614075	0.328
18	52612720	C	A	18	54945489	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.37926489840583E-5	0.0
18	52612720	C	G	18	54945489	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.52887587877718E-5	0.0
18	52612720	C	T	18	54945489	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.04760726299564E-4	0.0
18	52625160	T	A	18	54957929	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.56736691428002E-5	0.006
18	52625160	T	C	18	54957929	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.56736691428002E-5	0.008
18	52625160	T	G	18	54957929	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.56736691428002E-5	0.006
18	52625161	A	C	18	54957930	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.47959532904733E-5	0.018
18	52625161	A	G	18	54957930	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.47959532904733E-5	0.018
18	52625161	A	T	18	54957930	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	4.09774573448081E-5	0.002
18	52625162	G	A	18	54957931	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.1548255067557E-5	0.016
18	52625162	G	C	18	54957931	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.39502748842236E-5	0.008
18	52625162	G	T	18	54957931	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.39502748842236E-5	0.0
18	52625163	C	A	18	54957932	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.21788430707588E-5	0.002
18	52625163	C	G	18	54957932	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.21788430707588E-5	0.002
18	52625163	C	T	18	54957932	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	3.47216650607702E-5	0.002
18	52625164	T	A	18	54957933	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.52773432237745E-4	0.002
18	52625164	T	C	18	54957933	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.52773432237745E-4	0.006
18	52625164	T	G	18	54957933	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.52773432237745E-4	0.006
18	52625165	T	A	18	54957934	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.82915043527174E-5	0.01
18	52625165	T	C	18	54957934	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.82915043527174E-5	0.006
18	52625165	T	G	18	54957934	n	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.82915043527174E-5	0.006
18	52625166	A	C	18	54957935	n	y	intronic	CCDC68	.	.	splicing	ENSG00000166510	.	.	7.54008979229845E-5	0.01
18	52625166	A	G	18	54957935	n	y	intronic	CCDC68	.	.	splicing	ENSG00000166510	.	.	7.54008979229845E-5	0.01
18	52625166	A	T	18	54957935	n	y	intronic	CCDC68	.	.	splicing	ENSG00000166510	.	.	8.59124223434785E-5	0.012
18	52625167	C	A	18	54957936	n	y	intronic	CCDC68	.	.	splicing	ENSG00000166510	.	.	1.99153316237132E-5	0.0
18	52625167	C	G	18	54957936	n	y	intronic	CCDC68	.	.	splicing	ENSG00000166510	.	.	1.99153316237132E-5	0.0
18	52625167	C	T	18	54957936	n	y	intronic	CCDC68	.	.	splicing	ENSG00000166510	.	.	1.99153316237132E-5	0.0
18	52625168	A	C	18	54957937	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.89925739660516E-5	0.004
18	52625168	A	G	18	54957937	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.89925739660516E-5	0.004
18	52625168	A	T	18	54957937	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.89925739660516E-5	0.018
18	52625169	T	A	18	54957938	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.23104497563028E-4	0.002
18	52625169	T	C	18	54957938	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.23104497563028E-4	0.002
18	52625169	T	G	18	54957938	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.23104497563028E-4	0.002
18	52625170	T	A	18	54957939	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	4.45170072801036E-5	0.006
18	52625170	T	C	18	54957939	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.3994564522384E-5	0.006
18	52625170	T	G	18	54957939	n	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	2.3994564522384E-5	0.006
18	52625198	C	A	18	54957967	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.75289494538373E-5	0.008
18	52625198	C	G	18	54957967	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.75289494538373E-5	0.008
18	52625198	C	T	18	54957967	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.75289494538373E-5	0.008
18	52625199	A	C	18	54957968	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.5908222467397E-5	0.002
18	52625199	A	G	18	54957968	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.5908222467397E-5	0.002
18	52625199	A	T	18	54957968	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.07902708129146E-4	0.004
18	52625200	A	C	18	54957969	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.77993525610891E-5	0.0
18	52625200	A	G	18	54957969	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	6.77993525610891E-5	0.0
18	52625200	A	T	18	54957969	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	7.48293208623238E-5	0.0
18	52625201	C	A	18	54957970	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.93972165730067E-5	0.002
18	52625201	C	G	18	54957970	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.93972165730067E-5	0.0
18	52625201	C	T	18	54957970	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.93972165730067E-5	0.0
18	52625202	T	A	18	54957971	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.03334260509943E-4	0.002
18	52625202	T	C	18	54957971	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.85062238621114E-5	0.002
18	52625202	T	G	18	54957971	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.12372629638807E-5	0.002
18	52625203	C	A	18	54957972	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.69930370103191E-5	0.0
18	52625203	C	G	18	54957972	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.57076726553018E-5	0.0
18	52625203	C	T	18	54957972	y	y	intronic	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.69930370103191E-5	0.0
18	52625204	A	C	18	54957973	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	2.455930068921E-5	0.002
18	52625204	A	G	18	54957973	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	2.455930068921E-5	0.002
18	52625204	A	T	18	54957973	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	6.5908222467397E-5	0.002
18	52625205	C	A	18	54957974	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	4.59011002566824E-5	0.018
18	52625205	C	G	18	54957974	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	4.59011002566824E-5	0.018
18	52625205	C	T	18	54957974	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	4.59011002566824E-5	0.018
18	52625206	C	A	18	54957975	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.48842690557089E-4	0.104
18	52625206	C	G	18	54957975	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	8.02297266011095E-5	0.108
18	52625206	C	T	18	54957975	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.48842690557089E-4	0.104
18	52625207	T	A	18	54957976	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.39457982047225E-5	0.0
18	52625207	T	C	18	54957976	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.27663100932972E-5	0.0
18	52625207	T	G	18	54957976	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.39457982047225E-5	0.002
18	52625208	T	A	18	54957977	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.15941453541388E-5	0.002
18	52625208	T	C	18	54957977	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.15941453541388E-5	0.004
18	52625208	T	G	18	54957977	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	5.15941453541388E-5	0.004
18	52626559	T	A	18	54959328	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.060353695116366	0.406
18	52626559	T	C	18	54959328	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0147547886057201	0.174
18	52626559	T	G	18	54959328	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.0563657888584261	0.254
18	52626560	C	A	18	54959329	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	6.46526879472898E-4	0.002
18	52626560	C	G	18	54959329	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00309382772728037	0.01
18	52626560	C	T	18	54959329	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.00317603829261679	0.012
18	52626561	G	A	18	54959330	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	7.97994374756174E-5	0.014
18	52626561	G	C	18	54959330	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.53431074808316E-4	0.034
18	52626561	G	T	18	54959330	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	1.7295121504628E-4	0.012
18	52626562	C	A	18	54959331	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.999854470693967	0.932
18	52626562	C	G	18	54959331	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.992675766517763	0.846
18	52626562	C	T	18	54959331	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.998100605905407	0.71
18	52626563	C	A	18	54959332	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	8.30511131625731E-4	0.054
18	52626563	C	G	18	54959332	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	5.32178807255449E-4	0.112
18	52626563	C	T	18	54959332	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	2.17464477126869E-4	0.04
18	52626564	T	A	18	54959333	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.989602017763055	0.848
18	52626564	T	C	18	54959333	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.209857874834517	0.498
18	52626564	T	G	18	54959333	y	y	intronic	CCDC68	.	.	intronic	ENSG00000166510	.	.	0.979695800221113	0.814
18	52626565	A	C	18	54959334	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999939020951004	0.928
18	52626565	A	G	18	54959334	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.972222653169333	0.588
18	52626565	A	T	18	54959334	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999939020951004	0.924
18	52626566	C	A	18	54959335	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999986675681007	0.936
18	52626566	C	G	18	54959335	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999976137096505	0.938
18	52626566	C	T	18	54959335	y	y	splicing	CCDC68	.	.	splicing	ENSG00000166510	.	.	0.999986675681007	0.936
18	52626567	C	A	18	54959336	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.999887730163495	1.0
18	52626567	C	G	18	54959336	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.999973702078651	0.998
18	52626567	C	T	18	54959336	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.999755420540178	0.994
18	52626568	T	A	18	54959337	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.944554282408355	0.874
18	52626568	T	C	18	54959337	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.974041556270854	0.836
18	52626568	T	G	18	54959337	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.85425093384687	0.754
18	52626569	T	A	18	54959338	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	0.00638406998537069	0.26
18	52626569	T	C	18	54959338	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	3.38626187174034E-4	0.014
18	52626569	T	G	18	54959338	y	y	UTR5	CCDC68	.	.	UTR5	ENSG00000166510	.	.	1.21521616461498E-4	0.0
18	52895260	A	C	18	55228029	y	y	UTR3	TCF4	.	.	UTR3	ENSG00000196628	.	.	0.00101299000058085	0.048
18	52895260	A	G	18	55228029	y	y	UTR3	TCF4	.	.	UTR3	ENSG00000196628	.	.	0.00141768552009511	0.066
18	52895260	A	T	18	55228029	y	y	UTR3	TCF4	.	.	UTR3	ENSG00000196628	.	.	0.00112455906096464	0.042
18	52895261	C	A	18	55228030	y	y	UTR3	TCF4	.	.	UTR3	ENSG00000196628	.	.	0.646337383253788	0.448
18	52895261	C	G	18	55228030	y	y	UTR3	TCF4	.	.	UTR3	ENSG00000196628	.	.	0.357728832969739	0.466
18	52895261	C	T	18	55228030	y	y	UTR3	TCF4	.	.	UTR3	ENSG00000196628	.	.	0.0661474882504893	0.424
18	52895262	C	A	18	55228031	y	y	splicing	TCF4(NM_001243226:exon22:c.2327-1G>T;NM_001243230:exon20:c.2000-1G>T;NM_001243234:exon14:c.1541-1G>T;NM_001243232:exon17:c.1808-1G>T;NM_001243236:exon14:c.1529-1G>T;NM_001083962:exon21:c.2021-1G>T;NM_003199:exon21:c.2009-1G>T;NM_001243235:exon14:c.1529-1G>T;NM_001243233:exon17:c.1619-1G>T;NM_001243231:exon19:c.1883-1G>T;NM_001243228:exon21:c.2039-1G>T;NM_001243227:exon20:c.1949-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon21:c.2021-1G>T;ENST00000356073:exon21:c.2009-1G>T;ENST00000568673:exon20:c.1949-1G>T;ENST00000543082:exon19:c.1883-1G>T;ENST00000457482:exon14:c.1541-1G>T;ENST00000540999:exon20:c.1937-1G>T;ENST00000537578:exon20:c.1949-1G>T;ENST00000564999:exon21:c.2009-1G>T;ENST00000568740:exon20:c.1934-1G>T;ENST00000537856:exon16:c.1619-1G>T;ENST00000544241:exon17:c.1808-1G>T;ENST00000561992:exon17:c.1619-1G>T;ENST00000561831:exon14:c.1529-1G>T;ENST00000565018:exon21:c.2021-1G>T;ENST00000566279:exon19:c.1841-1G>T;ENST00000566286:exon20:c.2000-1G>T;ENST00000567880:exon18:c.1829-1G>T;ENST00000564228:exon17:c.1796-1G>T;ENST00000570287:exon14:c.1529-1G>T;ENST00000398339:exon22:c.2327-1G>T;ENST00000564403:exon21:c.2039-1G>T;ENST00000570177:exon16:c.1619-1G>T)	.	.	0.99997563195722	0.94
18	52895262	C	G	18	55228031	y	y	splicing	TCF4(NM_001243226:exon22:c.2327-1G>C;NM_001243230:exon20:c.2000-1G>C;NM_001243234:exon14:c.1541-1G>C;NM_001243232:exon17:c.1808-1G>C;NM_001243236:exon14:c.1529-1G>C;NM_001083962:exon21:c.2021-1G>C;NM_003199:exon21:c.2009-1G>C;NM_001243235:exon14:c.1529-1G>C;NM_001243233:exon17:c.1619-1G>C;NM_001243231:exon19:c.1883-1G>C;NM_001243228:exon21:c.2039-1G>C;NM_001243227:exon20:c.1949-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon21:c.2021-1G>C;ENST00000356073:exon21:c.2009-1G>C;ENST00000568673:exon20:c.1949-1G>C;ENST00000543082:exon19:c.1883-1G>C;ENST00000457482:exon14:c.1541-1G>C;ENST00000540999:exon20:c.1937-1G>C;ENST00000537578:exon20:c.1949-1G>C;ENST00000564999:exon21:c.2009-1G>C;ENST00000568740:exon20:c.1934-1G>C;ENST00000537856:exon16:c.1619-1G>C;ENST00000544241:exon17:c.1808-1G>C;ENST00000561992:exon17:c.1619-1G>C;ENST00000561831:exon14:c.1529-1G>C;ENST00000565018:exon21:c.2021-1G>C;ENST00000566279:exon19:c.1841-1G>C;ENST00000566286:exon20:c.2000-1G>C;ENST00000567880:exon18:c.1829-1G>C;ENST00000564228:exon17:c.1796-1G>C;ENST00000570287:exon14:c.1529-1G>C;ENST00000398339:exon22:c.2327-1G>C;ENST00000564403:exon21:c.2039-1G>C;ENST00000570177:exon16:c.1619-1G>C)	.	.	0.99997563195722	0.94
18	52895262	C	T	18	55228031	y	y	splicing	TCF4(NM_001243226:exon22:c.2327-1G>A;NM_001243230:exon20:c.2000-1G>A;NM_001243234:exon14:c.1541-1G>A;NM_001243232:exon17:c.1808-1G>A;NM_001243236:exon14:c.1529-1G>A;NM_001083962:exon21:c.2021-1G>A;NM_003199:exon21:c.2009-1G>A;NM_001243235:exon14:c.1529-1G>A;NM_001243233:exon17:c.1619-1G>A;NM_001243231:exon19:c.1883-1G>A;NM_001243228:exon21:c.2039-1G>A;NM_001243227:exon20:c.1949-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon21:c.2021-1G>A;ENST00000356073:exon21:c.2009-1G>A;ENST00000568673:exon20:c.1949-1G>A;ENST00000543082:exon19:c.1883-1G>A;ENST00000457482:exon14:c.1541-1G>A;ENST00000540999:exon20:c.1937-1G>A;ENST00000537578:exon20:c.1949-1G>A;ENST00000564999:exon21:c.2009-1G>A;ENST00000568740:exon20:c.1934-1G>A;ENST00000537856:exon16:c.1619-1G>A;ENST00000544241:exon17:c.1808-1G>A;ENST00000561992:exon17:c.1619-1G>A;ENST00000561831:exon14:c.1529-1G>A;ENST00000565018:exon21:c.2021-1G>A;ENST00000566279:exon19:c.1841-1G>A;ENST00000566286:exon20:c.2000-1G>A;ENST00000567880:exon18:c.1829-1G>A;ENST00000564228:exon17:c.1796-1G>A;ENST00000570287:exon14:c.1529-1G>A;ENST00000398339:exon22:c.2327-1G>A;ENST00000564403:exon21:c.2039-1G>A;ENST00000570177:exon16:c.1619-1G>A)	.	.	0.999962645301161	0.944
18	52895263	T	A	18	55228032	y	y	splicing	TCF4(NM_001243226:exon22:c.2327-2A>T;NM_001243230:exon20:c.2000-2A>T;NM_001243234:exon14:c.1541-2A>T;NM_001243232:exon17:c.1808-2A>T;NM_001243236:exon14:c.1529-2A>T;NM_001083962:exon21:c.2021-2A>T;NM_003199:exon21:c.2009-2A>T;NM_001243235:exon14:c.1529-2A>T;NM_001243233:exon17:c.1619-2A>T;NM_001243231:exon19:c.1883-2A>T;NM_001243228:exon21:c.2039-2A>T;NM_001243227:exon20:c.1949-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon21:c.2021-2A>T;ENST00000356073:exon21:c.2009-2A>T;ENST00000568673:exon20:c.1949-2A>T;ENST00000543082:exon19:c.1883-2A>T;ENST00000457482:exon14:c.1541-2A>T;ENST00000540999:exon20:c.1937-2A>T;ENST00000537578:exon20:c.1949-2A>T;ENST00000564999:exon21:c.2009-2A>T;ENST00000568740:exon20:c.1934-2A>T;ENST00000537856:exon16:c.1619-2A>T;ENST00000544241:exon17:c.1808-2A>T;ENST00000561992:exon17:c.1619-2A>T;ENST00000561831:exon14:c.1529-2A>T;ENST00000565018:exon21:c.2021-2A>T;ENST00000566279:exon19:c.1841-2A>T;ENST00000566286:exon20:c.2000-2A>T;ENST00000567880:exon18:c.1829-2A>T;ENST00000564228:exon17:c.1796-2A>T;ENST00000570287:exon14:c.1529-2A>T;ENST00000398339:exon22:c.2327-2A>T;ENST00000564403:exon21:c.2039-2A>T;ENST00000570177:exon16:c.1619-2A>T)	.	.	0.99994568797423	0.948
18	52895263	T	C	18	55228032	y	y	splicing	TCF4(NM_001243226:exon22:c.2327-2A>G;NM_001243230:exon20:c.2000-2A>G;NM_001243234:exon14:c.1541-2A>G;NM_001243232:exon17:c.1808-2A>G;NM_001243236:exon14:c.1529-2A>G;NM_001083962:exon21:c.2021-2A>G;NM_003199:exon21:c.2009-2A>G;NM_001243235:exon14:c.1529-2A>G;NM_001243233:exon17:c.1619-2A>G;NM_001243231:exon19:c.1883-2A>G;NM_001243228:exon21:c.2039-2A>G;NM_001243227:exon20:c.1949-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon21:c.2021-2A>G;ENST00000356073:exon21:c.2009-2A>G;ENST00000568673:exon20:c.1949-2A>G;ENST00000543082:exon19:c.1883-2A>G;ENST00000457482:exon14:c.1541-2A>G;ENST00000540999:exon20:c.1937-2A>G;ENST00000537578:exon20:c.1949-2A>G;ENST00000564999:exon21:c.2009-2A>G;ENST00000568740:exon20:c.1934-2A>G;ENST00000537856:exon16:c.1619-2A>G;ENST00000544241:exon17:c.1808-2A>G;ENST00000561992:exon17:c.1619-2A>G;ENST00000561831:exon14:c.1529-2A>G;ENST00000565018:exon21:c.2021-2A>G;ENST00000566279:exon19:c.1841-2A>G;ENST00000566286:exon20:c.2000-2A>G;ENST00000567880:exon18:c.1829-2A>G;ENST00000564228:exon17:c.1796-2A>G;ENST00000570287:exon14:c.1529-2A>G;ENST00000398339:exon22:c.2327-2A>G;ENST00000564403:exon21:c.2039-2A>G;ENST00000570177:exon16:c.1619-2A>G)	.	.	0.999946188727699	0.948
18	52895263	T	G	18	55228032	y	y	splicing	TCF4(NM_001243226:exon22:c.2327-2A>C;NM_001243230:exon20:c.2000-2A>C;NM_001243234:exon14:c.1541-2A>C;NM_001243232:exon17:c.1808-2A>C;NM_001243236:exon14:c.1529-2A>C;NM_001083962:exon21:c.2021-2A>C;NM_003199:exon21:c.2009-2A>C;NM_001243235:exon14:c.1529-2A>C;NM_001243233:exon17:c.1619-2A>C;NM_001243231:exon19:c.1883-2A>C;NM_001243228:exon21:c.2039-2A>C;NM_001243227:exon20:c.1949-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon21:c.2021-2A>C;ENST00000356073:exon21:c.2009-2A>C;ENST00000568673:exon20:c.1949-2A>C;ENST00000543082:exon19:c.1883-2A>C;ENST00000457482:exon14:c.1541-2A>C;ENST00000540999:exon20:c.1937-2A>C;ENST00000537578:exon20:c.1949-2A>C;ENST00000564999:exon21:c.2009-2A>C;ENST00000568740:exon20:c.1934-2A>C;ENST00000537856:exon16:c.1619-2A>C;ENST00000544241:exon17:c.1808-2A>C;ENST00000561992:exon17:c.1619-2A>C;ENST00000561831:exon14:c.1529-2A>C;ENST00000565018:exon21:c.2021-2A>C;ENST00000566279:exon19:c.1841-2A>C;ENST00000566286:exon20:c.2000-2A>C;ENST00000567880:exon18:c.1829-2A>C;ENST00000564228:exon17:c.1796-2A>C;ENST00000570287:exon14:c.1529-2A>C;ENST00000398339:exon22:c.2327-2A>C;ENST00000564403:exon21:c.2039-2A>C;ENST00000570177:exon16:c.1619-2A>C)	.	.	0.999946188727699	0.948
18	52895264	G	A	18	55228033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.123299077301846	0.326
18	52895264	G	C	18	55228033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998981807344179	0.69
18	52895264	G	T	18	55228033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.644754954616338	0.304
18	52895265	A	C	18	55228034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.06378494281408E-5	0.0
18	52895265	A	G	18	55228034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.34037903197244E-5	0.0
18	52895265	A	T	18	55228034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.65995420866356E-5	0.0
18	52895266	G	A	18	55228035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.44665058080791E-4	0.032
18	52895266	G	C	18	55228035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.53873033712448E-4	0.144
18	52895266	G	T	18	55228035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.38039117016397E-4	0.13
18	52895267	A	C	18	55228036	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.02582938895581E-5	0.068
18	52895267	A	G	18	55228036	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.31732087348016E-5	0.006
18	52895267	A	T	18	55228036	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.02582938895581E-5	0.052
18	52895268	A	C	18	55228037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00170770593909594	0.136
18	52895268	A	G	18	55228037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.80577076329797E-4	0.022
18	52895268	A	T	18	55228037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00128279636955074	0.156
18	52895269	A	C	18	55228038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.09056183247192E-4	0.02
18	52895269	A	G	18	55228038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.37452004004708E-5	0.012
18	52895269	A	T	18	55228038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.89912904496834E-4	0.024
18	52895270	G	A	18	55228039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.37148856108997E-4	0.14
18	52895270	G	C	18	55228039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.65772000699705E-5	0.076
18	52895270	G	T	18	55228039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.06452585957666E-4	0.08
18	52895271	G	A	18	55228040	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.42177972707701E-4	0.242
18	52895271	G	C	18	55228040	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.15175302008524E-4	0.102
18	52895271	G	T	18	55228040	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.4964916876923E-4	0.11
18	52895272	A	C	18	55228041	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.36061292949175E-5	0.09
18	52895272	A	G	18	55228041	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.766559635647E-5	0.022
18	52895272	A	T	18	55228041	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.22483900144188E-4	0.208
18	52895273	A	C	18	55228042	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00924668896098205	0.14
18	52895273	A	G	18	55228042	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0124040911441221	0.084
18	52895273	A	T	18	55228042	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.028705290380863	0.208
18	52895591	T	A	18	55228360	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon12:c.A1389T:p.E463D;TCF4:NM_001243235:exon12:c.A1389T:p.E463D;TCF4:NM_001243231:exon17:c.A1743T:p.E581D;TCF4:NM_003199:exon19:c.A1869T:p.E623D;TCF4:NM_001243230:exon18:c.A1860T:p.E620D;TCF4:NM_001243232:exon15:c.A1668T:p.E556D;TCF4:NM_001083962:exon19:c.A1881T:p.E627D;TCF4:NM_001243227:exon18:c.A1809T:p.E603D;TCF4:NM_001243234:exon12:c.A1401T:p.E467D;TCF4:NM_001243226:exon20:c.A2187T:p.E729D;TCF4:NM_001243228:exon19:c.A1899T:p.E633D;TCF4:NM_001243233:exon15:c.A1479T:p.E493D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon17:c.A1701T:p.E567D;ENSG00000196628:ENST00000561831:exon12:c.A1389T:p.E463D;ENSG00000196628:ENST00000564999:exon19:c.A1869T:p.E623D;ENSG00000196628:ENST00000568740:exon18:c.A1794T:p.E598D;ENSG00000196628:ENST00000561992:exon15:c.A1479T:p.E493D;ENSG00000196628:ENST00000565018:exon19:c.A1881T:p.E627D;ENSG00000196628:ENST00000354452:exon19:c.A1881T:p.E627D;ENSG00000196628:ENST00000566286:exon18:c.A1860T:p.E620D;ENSG00000196628:ENST00000356073:exon19:c.A1869T:p.E623D;ENSG00000196628:ENST00000543082:exon17:c.A1743T:p.E581D;ENSG00000196628:ENST00000570287:exon12:c.A1389T:p.E463D;ENSG00000196628:ENST00000544241:exon15:c.A1668T:p.E556D;ENSG00000196628:ENST00000537578:exon18:c.A1809T:p.E603D;ENSG00000196628:ENST00000564403:exon19:c.A1899T:p.E633D;ENSG00000196628:ENST00000570177:exon14:c.A1479T:p.E493D;ENSG00000196628:ENST00000457482:exon12:c.A1401T:p.E467D;ENSG00000196628:ENST00000568673:exon18:c.A1809T:p.E603D;ENSG00000196628:ENST00000540999:exon18:c.A1797T:p.E599D;ENSG00000196628:ENST00000537856:exon14:c.A1479T:p.E493D;ENSG00000196628:ENST00000398339:exon20:c.A2187T:p.E729D;ENSG00000196628:ENST00000564228:exon15:c.A1656T:p.E552D;ENSG00000196628:ENST00000567880:exon16:c.A1689T:p.E563D;	6.93559849355251E-4	0.254
18	52895591	T	C	18	55228360	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon12:c.A1389G:p.E463E;TCF4:NM_001243235:exon12:c.A1389G:p.E463E;TCF4:NM_001243231:exon17:c.A1743G:p.E581E;TCF4:NM_003199:exon19:c.A1869G:p.E623E;TCF4:NM_001243230:exon18:c.A1860G:p.E620E;TCF4:NM_001243232:exon15:c.A1668G:p.E556E;TCF4:NM_001083962:exon19:c.A1881G:p.E627E;TCF4:NM_001243227:exon18:c.A1809G:p.E603E;TCF4:NM_001243234:exon12:c.A1401G:p.E467E;TCF4:NM_001243226:exon20:c.A2187G:p.E729E;TCF4:NM_001243228:exon19:c.A1899G:p.E633E;TCF4:NM_001243233:exon15:c.A1479G:p.E493E;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon17:c.A1701G:p.E567E;ENSG00000196628:ENST00000561831:exon12:c.A1389G:p.E463E;ENSG00000196628:ENST00000564999:exon19:c.A1869G:p.E623E;ENSG00000196628:ENST00000568740:exon18:c.A1794G:p.E598E;ENSG00000196628:ENST00000561992:exon15:c.A1479G:p.E493E;ENSG00000196628:ENST00000565018:exon19:c.A1881G:p.E627E;ENSG00000196628:ENST00000354452:exon19:c.A1881G:p.E627E;ENSG00000196628:ENST00000566286:exon18:c.A1860G:p.E620E;ENSG00000196628:ENST00000356073:exon19:c.A1869G:p.E623E;ENSG00000196628:ENST00000543082:exon17:c.A1743G:p.E581E;ENSG00000196628:ENST00000570287:exon12:c.A1389G:p.E463E;ENSG00000196628:ENST00000544241:exon15:c.A1668G:p.E556E;ENSG00000196628:ENST00000537578:exon18:c.A1809G:p.E603E;ENSG00000196628:ENST00000564403:exon19:c.A1899G:p.E633E;ENSG00000196628:ENST00000570177:exon14:c.A1479G:p.E493E;ENSG00000196628:ENST00000457482:exon12:c.A1401G:p.E467E;ENSG00000196628:ENST00000568673:exon18:c.A1809G:p.E603E;ENSG00000196628:ENST00000540999:exon18:c.A1797G:p.E599E;ENSG00000196628:ENST00000537856:exon14:c.A1479G:p.E493E;ENSG00000196628:ENST00000398339:exon20:c.A2187G:p.E729E;ENSG00000196628:ENST00000564228:exon15:c.A1656G:p.E552E;ENSG00000196628:ENST00000567880:exon16:c.A1689G:p.E563E;	7.69999118231293E-4	0.024
18	52895591	T	G	18	55228360	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon12:c.A1389C:p.E463D;TCF4:NM_001243235:exon12:c.A1389C:p.E463D;TCF4:NM_001243231:exon17:c.A1743C:p.E581D;TCF4:NM_003199:exon19:c.A1869C:p.E623D;TCF4:NM_001243230:exon18:c.A1860C:p.E620D;TCF4:NM_001243232:exon15:c.A1668C:p.E556D;TCF4:NM_001083962:exon19:c.A1881C:p.E627D;TCF4:NM_001243227:exon18:c.A1809C:p.E603D;TCF4:NM_001243234:exon12:c.A1401C:p.E467D;TCF4:NM_001243226:exon20:c.A2187C:p.E729D;TCF4:NM_001243228:exon19:c.A1899C:p.E633D;TCF4:NM_001243233:exon15:c.A1479C:p.E493D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon17:c.A1701C:p.E567D;ENSG00000196628:ENST00000561831:exon12:c.A1389C:p.E463D;ENSG00000196628:ENST00000564999:exon19:c.A1869C:p.E623D;ENSG00000196628:ENST00000568740:exon18:c.A1794C:p.E598D;ENSG00000196628:ENST00000561992:exon15:c.A1479C:p.E493D;ENSG00000196628:ENST00000565018:exon19:c.A1881C:p.E627D;ENSG00000196628:ENST00000354452:exon19:c.A1881C:p.E627D;ENSG00000196628:ENST00000566286:exon18:c.A1860C:p.E620D;ENSG00000196628:ENST00000356073:exon19:c.A1869C:p.E623D;ENSG00000196628:ENST00000543082:exon17:c.A1743C:p.E581D;ENSG00000196628:ENST00000570287:exon12:c.A1389C:p.E463D;ENSG00000196628:ENST00000544241:exon15:c.A1668C:p.E556D;ENSG00000196628:ENST00000537578:exon18:c.A1809C:p.E603D;ENSG00000196628:ENST00000564403:exon19:c.A1899C:p.E633D;ENSG00000196628:ENST00000570177:exon14:c.A1479C:p.E493D;ENSG00000196628:ENST00000457482:exon12:c.A1401C:p.E467D;ENSG00000196628:ENST00000568673:exon18:c.A1809C:p.E603D;ENSG00000196628:ENST00000540999:exon18:c.A1797C:p.E599D;ENSG00000196628:ENST00000537856:exon14:c.A1479C:p.E493D;ENSG00000196628:ENST00000398339:exon20:c.A2187C:p.E729D;ENSG00000196628:ENST00000564228:exon15:c.A1656C:p.E552D;ENSG00000196628:ENST00000567880:exon16:c.A1689C:p.E563D;	0.00107292197547362	0.268
18	52895592	T	A	18	55228361	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon12:c.A1388T:p.E463V;TCF4:NM_001243235:exon12:c.A1388T:p.E463V;TCF4:NM_001243231:exon17:c.A1742T:p.E581V;TCF4:NM_003199:exon19:c.A1868T:p.E623V;TCF4:NM_001243230:exon18:c.A1859T:p.E620V;TCF4:NM_001243232:exon15:c.A1667T:p.E556V;TCF4:NM_001083962:exon19:c.A1880T:p.E627V;TCF4:NM_001243227:exon18:c.A1808T:p.E603V;TCF4:NM_001243234:exon12:c.A1400T:p.E467V;TCF4:NM_001243226:exon20:c.A2186T:p.E729V;TCF4:NM_001243228:exon19:c.A1898T:p.E633V;TCF4:NM_001243233:exon15:c.A1478T:p.E493V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon17:c.A1700T:p.E567V;ENSG00000196628:ENST00000561831:exon12:c.A1388T:p.E463V;ENSG00000196628:ENST00000564999:exon19:c.A1868T:p.E623V;ENSG00000196628:ENST00000568740:exon18:c.A1793T:p.E598V;ENSG00000196628:ENST00000561992:exon15:c.A1478T:p.E493V;ENSG00000196628:ENST00000565018:exon19:c.A1880T:p.E627V;ENSG00000196628:ENST00000354452:exon19:c.A1880T:p.E627V;ENSG00000196628:ENST00000566286:exon18:c.A1859T:p.E620V;ENSG00000196628:ENST00000356073:exon19:c.A1868T:p.E623V;ENSG00000196628:ENST00000543082:exon17:c.A1742T:p.E581V;ENSG00000196628:ENST00000570287:exon12:c.A1388T:p.E463V;ENSG00000196628:ENST00000544241:exon15:c.A1667T:p.E556V;ENSG00000196628:ENST00000537578:exon18:c.A1808T:p.E603V;ENSG00000196628:ENST00000564403:exon19:c.A1898T:p.E633V;ENSG00000196628:ENST00000570177:exon14:c.A1478T:p.E493V;ENSG00000196628:ENST00000457482:exon12:c.A1400T:p.E467V;ENSG00000196628:ENST00000568673:exon18:c.A1808T:p.E603V;ENSG00000196628:ENST00000540999:exon18:c.A1796T:p.E599V;ENSG00000196628:ENST00000537856:exon14:c.A1478T:p.E493V;ENSG00000196628:ENST00000398339:exon20:c.A2186T:p.E729V;ENSG00000196628:ENST00000564228:exon15:c.A1655T:p.E552V;ENSG00000196628:ENST00000567880:exon16:c.A1688T:p.E563V;	0.911528918740979	0.594
18	52895592	T	C	18	55228361	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon12:c.A1388G:p.E463G;TCF4:NM_001243235:exon12:c.A1388G:p.E463G;TCF4:NM_001243231:exon17:c.A1742G:p.E581G;TCF4:NM_003199:exon19:c.A1868G:p.E623G;TCF4:NM_001243230:exon18:c.A1859G:p.E620G;TCF4:NM_001243232:exon15:c.A1667G:p.E556G;TCF4:NM_001083962:exon19:c.A1880G:p.E627G;TCF4:NM_001243227:exon18:c.A1808G:p.E603G;TCF4:NM_001243234:exon12:c.A1400G:p.E467G;TCF4:NM_001243226:exon20:c.A2186G:p.E729G;TCF4:NM_001243228:exon19:c.A1898G:p.E633G;TCF4:NM_001243233:exon15:c.A1478G:p.E493G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon17:c.A1700G:p.E567G;ENSG00000196628:ENST00000561831:exon12:c.A1388G:p.E463G;ENSG00000196628:ENST00000564999:exon19:c.A1868G:p.E623G;ENSG00000196628:ENST00000568740:exon18:c.A1793G:p.E598G;ENSG00000196628:ENST00000561992:exon15:c.A1478G:p.E493G;ENSG00000196628:ENST00000565018:exon19:c.A1880G:p.E627G;ENSG00000196628:ENST00000354452:exon19:c.A1880G:p.E627G;ENSG00000196628:ENST00000566286:exon18:c.A1859G:p.E620G;ENSG00000196628:ENST00000356073:exon19:c.A1868G:p.E623G;ENSG00000196628:ENST00000543082:exon17:c.A1742G:p.E581G;ENSG00000196628:ENST00000570287:exon12:c.A1388G:p.E463G;ENSG00000196628:ENST00000544241:exon15:c.A1667G:p.E556G;ENSG00000196628:ENST00000537578:exon18:c.A1808G:p.E603G;ENSG00000196628:ENST00000564403:exon19:c.A1898G:p.E633G;ENSG00000196628:ENST00000570177:exon14:c.A1478G:p.E493G;ENSG00000196628:ENST00000457482:exon12:c.A1400G:p.E467G;ENSG00000196628:ENST00000568673:exon18:c.A1808G:p.E603G;ENSG00000196628:ENST00000540999:exon18:c.A1796G:p.E599G;ENSG00000196628:ENST00000537856:exon14:c.A1478G:p.E493G;ENSG00000196628:ENST00000398339:exon20:c.A2186G:p.E729G;ENSG00000196628:ENST00000564228:exon15:c.A1655G:p.E552G;ENSG00000196628:ENST00000567880:exon16:c.A1688G:p.E563G;	0.720529420118802	0.58
18	52895592	T	G	18	55228361	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon12:c.A1388C:p.E463A;TCF4:NM_001243235:exon12:c.A1388C:p.E463A;TCF4:NM_001243231:exon17:c.A1742C:p.E581A;TCF4:NM_003199:exon19:c.A1868C:p.E623A;TCF4:NM_001243230:exon18:c.A1859C:p.E620A;TCF4:NM_001243232:exon15:c.A1667C:p.E556A;TCF4:NM_001083962:exon19:c.A1880C:p.E627A;TCF4:NM_001243227:exon18:c.A1808C:p.E603A;TCF4:NM_001243234:exon12:c.A1400C:p.E467A;TCF4:NM_001243226:exon20:c.A2186C:p.E729A;TCF4:NM_001243228:exon19:c.A1898C:p.E633A;TCF4:NM_001243233:exon15:c.A1478C:p.E493A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon17:c.A1700C:p.E567A;ENSG00000196628:ENST00000561831:exon12:c.A1388C:p.E463A;ENSG00000196628:ENST00000564999:exon19:c.A1868C:p.E623A;ENSG00000196628:ENST00000568740:exon18:c.A1793C:p.E598A;ENSG00000196628:ENST00000561992:exon15:c.A1478C:p.E493A;ENSG00000196628:ENST00000565018:exon19:c.A1880C:p.E627A;ENSG00000196628:ENST00000354452:exon19:c.A1880C:p.E627A;ENSG00000196628:ENST00000566286:exon18:c.A1859C:p.E620A;ENSG00000196628:ENST00000356073:exon19:c.A1868C:p.E623A;ENSG00000196628:ENST00000543082:exon17:c.A1742C:p.E581A;ENSG00000196628:ENST00000570287:exon12:c.A1388C:p.E463A;ENSG00000196628:ENST00000544241:exon15:c.A1667C:p.E556A;ENSG00000196628:ENST00000537578:exon18:c.A1808C:p.E603A;ENSG00000196628:ENST00000564403:exon19:c.A1898C:p.E633A;ENSG00000196628:ENST00000570177:exon14:c.A1478C:p.E493A;ENSG00000196628:ENST00000457482:exon12:c.A1400C:p.E467A;ENSG00000196628:ENST00000568673:exon18:c.A1808C:p.E603A;ENSG00000196628:ENST00000540999:exon18:c.A1796C:p.E599A;ENSG00000196628:ENST00000537856:exon14:c.A1478C:p.E493A;ENSG00000196628:ENST00000398339:exon20:c.A2186C:p.E729A;ENSG00000196628:ENST00000564228:exon15:c.A1655C:p.E552A;ENSG00000196628:ENST00000567880:exon16:c.A1688C:p.E563A;	0.930863050733229	0.618
18	52895593	C	A	18	55228362	y	y	splicing	TCF4(NM_001243226:exon21:c.2186-1G>T;NM_001243230:exon19:c.1859-1G>T;NM_001243234:exon13:c.1400-1G>T;NM_001243232:exon16:c.1667-1G>T;NM_001243236:exon13:c.1388-1G>T;NM_001083962:exon20:c.1880-1G>T;NM_003199:exon20:c.1868-1G>T;NM_001243235:exon13:c.1388-1G>T;NM_001243233:exon16:c.1478-1G>T;NM_001243231:exon18:c.1742-1G>T;NM_001243228:exon20:c.1898-1G>T;NM_001243227:exon19:c.1808-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon20:c.1880-1G>T;ENST00000356073:exon20:c.1868-1G>T;ENST00000568673:exon19:c.1808-1G>T;ENST00000543082:exon18:c.1742-1G>T;ENST00000457482:exon13:c.1400-1G>T;ENST00000540999:exon19:c.1796-1G>T;ENST00000537578:exon19:c.1808-1G>T;ENST00000564999:exon20:c.1868-1G>T;ENST00000568740:exon19:c.1793-1G>T;ENST00000537856:exon15:c.1478-1G>T;ENST00000544241:exon16:c.1667-1G>T;ENST00000561992:exon16:c.1478-1G>T;ENST00000561831:exon13:c.1388-1G>T;ENST00000565018:exon20:c.1880-1G>T;ENST00000566279:exon18:c.1700-1G>T;ENST00000566286:exon19:c.1859-1G>T;ENST00000567880:exon17:c.1688-1G>T;ENST00000564228:exon16:c.1655-1G>T;ENST00000570287:exon13:c.1388-1G>T;ENST00000398339:exon21:c.2186-1G>T;ENST00000564403:exon20:c.1898-1G>T;ENST00000570177:exon15:c.1478-1G>T)	.	.	0.999990361384395	0.932
18	52895593	C	G	18	55228362	y	y	splicing	TCF4(NM_001243226:exon21:c.2186-1G>C;NM_001243230:exon19:c.1859-1G>C;NM_001243234:exon13:c.1400-1G>C;NM_001243232:exon16:c.1667-1G>C;NM_001243236:exon13:c.1388-1G>C;NM_001083962:exon20:c.1880-1G>C;NM_003199:exon20:c.1868-1G>C;NM_001243235:exon13:c.1388-1G>C;NM_001243233:exon16:c.1478-1G>C;NM_001243231:exon18:c.1742-1G>C;NM_001243228:exon20:c.1898-1G>C;NM_001243227:exon19:c.1808-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon20:c.1880-1G>C;ENST00000356073:exon20:c.1868-1G>C;ENST00000568673:exon19:c.1808-1G>C;ENST00000543082:exon18:c.1742-1G>C;ENST00000457482:exon13:c.1400-1G>C;ENST00000540999:exon19:c.1796-1G>C;ENST00000537578:exon19:c.1808-1G>C;ENST00000564999:exon20:c.1868-1G>C;ENST00000568740:exon19:c.1793-1G>C;ENST00000537856:exon15:c.1478-1G>C;ENST00000544241:exon16:c.1667-1G>C;ENST00000561992:exon16:c.1478-1G>C;ENST00000561831:exon13:c.1388-1G>C;ENST00000565018:exon20:c.1880-1G>C;ENST00000566279:exon18:c.1700-1G>C;ENST00000566286:exon19:c.1859-1G>C;ENST00000567880:exon17:c.1688-1G>C;ENST00000564228:exon16:c.1655-1G>C;ENST00000570287:exon13:c.1388-1G>C;ENST00000398339:exon21:c.2186-1G>C;ENST00000564403:exon20:c.1898-1G>C;ENST00000570177:exon15:c.1478-1G>C)	.	.	0.999990361384395	0.932
18	52895593	C	T	18	55228362	y	y	splicing	TCF4(NM_001243226:exon21:c.2186-1G>A;NM_001243230:exon19:c.1859-1G>A;NM_001243234:exon13:c.1400-1G>A;NM_001243232:exon16:c.1667-1G>A;NM_001243236:exon13:c.1388-1G>A;NM_001083962:exon20:c.1880-1G>A;NM_003199:exon20:c.1868-1G>A;NM_001243235:exon13:c.1388-1G>A;NM_001243233:exon16:c.1478-1G>A;NM_001243231:exon18:c.1742-1G>A;NM_001243228:exon20:c.1898-1G>A;NM_001243227:exon19:c.1808-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon20:c.1880-1G>A;ENST00000356073:exon20:c.1868-1G>A;ENST00000568673:exon19:c.1808-1G>A;ENST00000543082:exon18:c.1742-1G>A;ENST00000457482:exon13:c.1400-1G>A;ENST00000540999:exon19:c.1796-1G>A;ENST00000537578:exon19:c.1808-1G>A;ENST00000564999:exon20:c.1868-1G>A;ENST00000568740:exon19:c.1793-1G>A;ENST00000537856:exon15:c.1478-1G>A;ENST00000544241:exon16:c.1667-1G>A;ENST00000561992:exon16:c.1478-1G>A;ENST00000561831:exon13:c.1388-1G>A;ENST00000565018:exon20:c.1880-1G>A;ENST00000566279:exon18:c.1700-1G>A;ENST00000566286:exon19:c.1859-1G>A;ENST00000567880:exon17:c.1688-1G>A;ENST00000564228:exon16:c.1655-1G>A;ENST00000570287:exon13:c.1388-1G>A;ENST00000398339:exon21:c.2186-1G>A;ENST00000564403:exon20:c.1898-1G>A;ENST00000570177:exon15:c.1478-1G>A)	.	.	0.999990361384395	0.932
18	52895594	T	A	18	55228363	y	y	splicing	TCF4(NM_001243226:exon21:c.2186-2A>T;NM_001243230:exon19:c.1859-2A>T;NM_001243234:exon13:c.1400-2A>T;NM_001243232:exon16:c.1667-2A>T;NM_001243236:exon13:c.1388-2A>T;NM_001083962:exon20:c.1880-2A>T;NM_003199:exon20:c.1868-2A>T;NM_001243235:exon13:c.1388-2A>T;NM_001243233:exon16:c.1478-2A>T;NM_001243231:exon18:c.1742-2A>T;NM_001243228:exon20:c.1898-2A>T;NM_001243227:exon19:c.1808-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon20:c.1880-2A>T;ENST00000356073:exon20:c.1868-2A>T;ENST00000568673:exon19:c.1808-2A>T;ENST00000543082:exon18:c.1742-2A>T;ENST00000457482:exon13:c.1400-2A>T;ENST00000540999:exon19:c.1796-2A>T;ENST00000537578:exon19:c.1808-2A>T;ENST00000564999:exon20:c.1868-2A>T;ENST00000568740:exon19:c.1793-2A>T;ENST00000537856:exon15:c.1478-2A>T;ENST00000544241:exon16:c.1667-2A>T;ENST00000561992:exon16:c.1478-2A>T;ENST00000561831:exon13:c.1388-2A>T;ENST00000565018:exon20:c.1880-2A>T;ENST00000566279:exon18:c.1700-2A>T;ENST00000566286:exon19:c.1859-2A>T;ENST00000567880:exon17:c.1688-2A>T;ENST00000564228:exon16:c.1655-2A>T;ENST00000570287:exon13:c.1388-2A>T;ENST00000398339:exon21:c.2186-2A>T;ENST00000564403:exon20:c.1898-2A>T;ENST00000570177:exon15:c.1478-2A>T)	.	.	0.999988247793601	0.918
18	52895594	T	C	18	55228363	y	y	splicing	TCF4(NM_001243226:exon21:c.2186-2A>G;NM_001243230:exon19:c.1859-2A>G;NM_001243234:exon13:c.1400-2A>G;NM_001243232:exon16:c.1667-2A>G;NM_001243236:exon13:c.1388-2A>G;NM_001083962:exon20:c.1880-2A>G;NM_003199:exon20:c.1868-2A>G;NM_001243235:exon13:c.1388-2A>G;NM_001243233:exon16:c.1478-2A>G;NM_001243231:exon18:c.1742-2A>G;NM_001243228:exon20:c.1898-2A>G;NM_001243227:exon19:c.1808-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon20:c.1880-2A>G;ENST00000356073:exon20:c.1868-2A>G;ENST00000568673:exon19:c.1808-2A>G;ENST00000543082:exon18:c.1742-2A>G;ENST00000457482:exon13:c.1400-2A>G;ENST00000540999:exon19:c.1796-2A>G;ENST00000537578:exon19:c.1808-2A>G;ENST00000564999:exon20:c.1868-2A>G;ENST00000568740:exon19:c.1793-2A>G;ENST00000537856:exon15:c.1478-2A>G;ENST00000544241:exon16:c.1667-2A>G;ENST00000561992:exon16:c.1478-2A>G;ENST00000561831:exon13:c.1388-2A>G;ENST00000565018:exon20:c.1880-2A>G;ENST00000566279:exon18:c.1700-2A>G;ENST00000566286:exon19:c.1859-2A>G;ENST00000567880:exon17:c.1688-2A>G;ENST00000564228:exon16:c.1655-2A>G;ENST00000570287:exon13:c.1388-2A>G;ENST00000398339:exon21:c.2186-2A>G;ENST00000564403:exon20:c.1898-2A>G;ENST00000570177:exon15:c.1478-2A>G)	.	.	0.999988247793601	0.918
18	52895594	T	G	18	55228363	y	y	splicing	TCF4(NM_001243226:exon21:c.2186-2A>C;NM_001243230:exon19:c.1859-2A>C;NM_001243234:exon13:c.1400-2A>C;NM_001243232:exon16:c.1667-2A>C;NM_001243236:exon13:c.1388-2A>C;NM_001083962:exon20:c.1880-2A>C;NM_003199:exon20:c.1868-2A>C;NM_001243235:exon13:c.1388-2A>C;NM_001243233:exon16:c.1478-2A>C;NM_001243231:exon18:c.1742-2A>C;NM_001243228:exon20:c.1898-2A>C;NM_001243227:exon19:c.1808-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon20:c.1880-2A>C;ENST00000356073:exon20:c.1868-2A>C;ENST00000568673:exon19:c.1808-2A>C;ENST00000543082:exon18:c.1742-2A>C;ENST00000457482:exon13:c.1400-2A>C;ENST00000540999:exon19:c.1796-2A>C;ENST00000537578:exon19:c.1808-2A>C;ENST00000564999:exon20:c.1868-2A>C;ENST00000568740:exon19:c.1793-2A>C;ENST00000537856:exon15:c.1478-2A>C;ENST00000544241:exon16:c.1667-2A>C;ENST00000561992:exon16:c.1478-2A>C;ENST00000561831:exon13:c.1388-2A>C;ENST00000565018:exon20:c.1880-2A>C;ENST00000566279:exon18:c.1700-2A>C;ENST00000566286:exon19:c.1859-2A>C;ENST00000567880:exon17:c.1688-2A>C;ENST00000564228:exon16:c.1655-2A>C;ENST00000570287:exon13:c.1388-2A>C;ENST00000398339:exon21:c.2186-2A>C;ENST00000564403:exon20:c.1898-2A>C;ENST00000570177:exon15:c.1478-2A>C)	.	.	0.999988247793601	0.918
18	52895595	G	A	18	55228364	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0252118462511665	0.156
18	52895595	G	C	18	55228364	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999868267536372	0.956
18	52895595	G	T	18	55228364	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.993100993609314	0.84
18	52895596	T	A	18	55228365	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.46942400181886E-5	0.002
18	52895596	T	C	18	55228365	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.41021194110853E-5	0.002
18	52895596	T	G	18	55228365	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.46667534127406E-5	0.0
18	52895597	G	A	18	55228366	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00118710210494496	0.068
18	52895597	G	C	18	55228366	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.28917749558694	0.362
18	52895597	G	T	18	55228366	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0528947164480694	0.306
18	52895598	G	A	18	55228367	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.72523916260202E-5	0.002
18	52895598	G	C	18	55228367	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0267444081500181	0.27
18	52895598	G	T	18	55228367	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0139583277337127	0.254
18	52895599	A	C	18	55228368	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.026890593784099	0.152
18	52895599	A	G	18	55228368	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.03626276071275E-5	0.004
18	52895599	A	T	18	55228368	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00770337617515403	0.106
18	52895600	G	A	18	55228369	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.51981201144532E-5	0.002
18	52895600	G	C	18	55228369	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.03590846176336E-4	0.068
18	52895600	G	T	18	55228369	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00267168285448564	0.132
18	52895601	G	A	18	55228370	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.55359889219971E-5	0.002
18	52895601	G	C	18	55228370	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.91732785112357E-4	0.07
18	52895601	G	T	18	55228370	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.79994711102557E-4	0.044
18	52895602	A	C	18	55228371	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999929535102801	0.956
18	52895602	A	G	18	55228371	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.52387104273774E-4	0.012
18	52895602	A	T	18	55228371	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.337944095105157	0.508
18	52895603	T	A	18	55228372	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.81148806835311E-4	0.232
18	52895603	T	C	18	55228372	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.997922469098675	0.84
18	52895603	T	G	18	55228372	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.26828235818613E-5	0.0
18	52895604	T	A	18	55228373	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.30192142830707E-5	0.0
18	52895604	T	C	18	55228373	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.07743053158193E-5	0.016
18	52895604	T	G	18	55228373	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.29848032077226E-5	0.0
18	52896070	G	A	18	55228839	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.06251781079631E-4	0.0
18	52896070	G	C	18	55228839	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.44585572656995E-4	0.136
18	52896070	G	T	18	55228839	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.06251781079631E-4	0.0
18	52896071	C	A	18	55228840	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.26206836415616E-4	0.004
18	52896071	C	G	18	55228840	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.19758238039619E-4	0.008
18	52896071	C	T	18	55228840	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.19758238039619E-4	0.004
18	52896072	A	C	18	55228841	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.313295866636767	0.412
18	52896072	A	G	18	55228841	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.111045593812331	0.384
18	52896072	A	T	18	55228841	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.166289180017169	0.384
18	52896073	C	A	18	55228842	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998281757105718	0.904
18	52896073	C	G	18	55228842	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99995720123833	0.936
18	52896073	C	T	18	55228842	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999935216115737	0.936
18	52896074	T	A	18	55228843	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.91996279218944	0.574
18	52896074	T	C	18	55228843	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.867088400254186	0.566
18	52896074	T	G	18	55228843	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.985560700016571	0.622
18	52896075	G	A	18	55228844	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.92438735351077E-5	0.02
18	52896075	G	C	18	55228844	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.65391866644282E-5	0.026
18	52896075	G	T	18	55228844	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.14051943412406E-4	0.074
18	52896076	A	C	18	55228845	y	y	splicing	TCF4(NM_001243226:exon20:c.2185+2T>G;NM_001243230:exon18:c.1858+2T>G;NM_001243234:exon12:c.1399+2T>G;NM_001243232:exon15:c.1666+2T>G;NM_001243236:exon12:c.1387+2T>G;NM_001083962:exon19:c.1879+2T>G;NM_003199:exon19:c.1867+2T>G;NM_001243235:exon12:c.1387+2T>G;NM_001243233:exon15:c.1477+2T>G;NM_001243231:exon17:c.1741+2T>G;NM_001243228:exon19:c.1897+2T>G;NM_001243227:exon18:c.1807+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1879+2T>G;ENST00000356073:exon19:c.1867+2T>G;ENST00000568673:exon18:c.1807+2T>G;ENST00000543082:exon17:c.1741+2T>G;ENST00000457482:exon12:c.1399+2T>G;ENST00000540999:exon18:c.1795+2T>G;ENST00000537578:exon18:c.1807+2T>G;ENST00000564999:exon19:c.1867+2T>G;ENST00000568740:exon18:c.1792+2T>G;ENST00000537856:exon14:c.1477+2T>G;ENST00000544241:exon15:c.1666+2T>G;ENST00000561992:exon15:c.1477+2T>G;ENST00000561831:exon12:c.1387+2T>G;ENST00000565018:exon19:c.1879+2T>G;ENST00000566279:exon17:c.1699+2T>G;ENST00000566286:exon18:c.1858+2T>G;ENST00000567880:exon16:c.1687+2T>G;ENST00000564228:exon15:c.1654+2T>G;ENST00000570287:exon12:c.1387+2T>G;ENST00000398339:exon20:c.2185+2T>G;ENST00000564403:exon19:c.1897+2T>G;ENST00000570177:exon14:c.1477+2T>G)	.	.	0.999981808176352	0.916
18	52896076	A	G	18	55228845	y	y	splicing	TCF4(NM_001243226:exon20:c.2185+2T>C;NM_001243230:exon18:c.1858+2T>C;NM_001243234:exon12:c.1399+2T>C;NM_001243232:exon15:c.1666+2T>C;NM_001243236:exon12:c.1387+2T>C;NM_001083962:exon19:c.1879+2T>C;NM_003199:exon19:c.1867+2T>C;NM_001243235:exon12:c.1387+2T>C;NM_001243233:exon15:c.1477+2T>C;NM_001243231:exon17:c.1741+2T>C;NM_001243228:exon19:c.1897+2T>C;NM_001243227:exon18:c.1807+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1879+2T>C;ENST00000356073:exon19:c.1867+2T>C;ENST00000568673:exon18:c.1807+2T>C;ENST00000543082:exon17:c.1741+2T>C;ENST00000457482:exon12:c.1399+2T>C;ENST00000540999:exon18:c.1795+2T>C;ENST00000537578:exon18:c.1807+2T>C;ENST00000564999:exon19:c.1867+2T>C;ENST00000568740:exon18:c.1792+2T>C;ENST00000537856:exon14:c.1477+2T>C;ENST00000544241:exon15:c.1666+2T>C;ENST00000561992:exon15:c.1477+2T>C;ENST00000561831:exon12:c.1387+2T>C;ENST00000565018:exon19:c.1879+2T>C;ENST00000566279:exon17:c.1699+2T>C;ENST00000566286:exon18:c.1858+2T>C;ENST00000567880:exon16:c.1687+2T>C;ENST00000564228:exon15:c.1654+2T>C;ENST00000570287:exon12:c.1387+2T>C;ENST00000398339:exon20:c.2185+2T>C;ENST00000564403:exon19:c.1897+2T>C;ENST00000570177:exon14:c.1477+2T>C)	.	.	0.983076175702873	0.564
18	52896076	A	T	18	55228845	y	y	splicing	TCF4(NM_001243226:exon20:c.2185+2T>A;NM_001243230:exon18:c.1858+2T>A;NM_001243234:exon12:c.1399+2T>A;NM_001243232:exon15:c.1666+2T>A;NM_001243236:exon12:c.1387+2T>A;NM_001083962:exon19:c.1879+2T>A;NM_003199:exon19:c.1867+2T>A;NM_001243235:exon12:c.1387+2T>A;NM_001243233:exon15:c.1477+2T>A;NM_001243231:exon17:c.1741+2T>A;NM_001243228:exon19:c.1897+2T>A;NM_001243227:exon18:c.1807+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1879+2T>A;ENST00000356073:exon19:c.1867+2T>A;ENST00000568673:exon18:c.1807+2T>A;ENST00000543082:exon17:c.1741+2T>A;ENST00000457482:exon12:c.1399+2T>A;ENST00000540999:exon18:c.1795+2T>A;ENST00000537578:exon18:c.1807+2T>A;ENST00000564999:exon19:c.1867+2T>A;ENST00000568740:exon18:c.1792+2T>A;ENST00000537856:exon14:c.1477+2T>A;ENST00000544241:exon15:c.1666+2T>A;ENST00000561992:exon15:c.1477+2T>A;ENST00000561831:exon12:c.1387+2T>A;ENST00000565018:exon19:c.1879+2T>A;ENST00000566279:exon17:c.1699+2T>A;ENST00000566286:exon18:c.1858+2T>A;ENST00000567880:exon16:c.1687+2T>A;ENST00000564228:exon15:c.1654+2T>A;ENST00000570287:exon12:c.1387+2T>A;ENST00000398339:exon20:c.2185+2T>A;ENST00000564403:exon19:c.1897+2T>A;ENST00000570177:exon14:c.1477+2T>A)	.	.	0.999981808176352	0.916
18	52896077	C	A	18	55228846	y	y	splicing	TCF4(NM_001243226:exon20:c.2185+1G>T;NM_001243230:exon18:c.1858+1G>T;NM_001243234:exon12:c.1399+1G>T;NM_001243232:exon15:c.1666+1G>T;NM_001243236:exon12:c.1387+1G>T;NM_001083962:exon19:c.1879+1G>T;NM_003199:exon19:c.1867+1G>T;NM_001243235:exon12:c.1387+1G>T;NM_001243233:exon15:c.1477+1G>T;NM_001243231:exon17:c.1741+1G>T;NM_001243228:exon19:c.1897+1G>T;NM_001243227:exon18:c.1807+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1879+1G>T;ENST00000356073:exon19:c.1867+1G>T;ENST00000568673:exon18:c.1807+1G>T;ENST00000543082:exon17:c.1741+1G>T;ENST00000457482:exon12:c.1399+1G>T;ENST00000540999:exon18:c.1795+1G>T;ENST00000537578:exon18:c.1807+1G>T;ENST00000564999:exon19:c.1867+1G>T;ENST00000568740:exon18:c.1792+1G>T;ENST00000537856:exon14:c.1477+1G>T;ENST00000544241:exon15:c.1666+1G>T;ENST00000561992:exon15:c.1477+1G>T;ENST00000561831:exon12:c.1387+1G>T;ENST00000565018:exon19:c.1879+1G>T;ENST00000566279:exon17:c.1699+1G>T;ENST00000566286:exon18:c.1858+1G>T;ENST00000567880:exon16:c.1687+1G>T;ENST00000564228:exon15:c.1654+1G>T;ENST00000570287:exon12:c.1387+1G>T;ENST00000398339:exon20:c.2185+1G>T;ENST00000564403:exon19:c.1897+1G>T;ENST00000570177:exon14:c.1477+1G>T)	.	.	0.999986675681007	0.934
18	52896077	C	G	18	55228846	y	y	splicing	TCF4(NM_001243226:exon20:c.2185+1G>C;NM_001243230:exon18:c.1858+1G>C;NM_001243234:exon12:c.1399+1G>C;NM_001243232:exon15:c.1666+1G>C;NM_001243236:exon12:c.1387+1G>C;NM_001083962:exon19:c.1879+1G>C;NM_003199:exon19:c.1867+1G>C;NM_001243235:exon12:c.1387+1G>C;NM_001243233:exon15:c.1477+1G>C;NM_001243231:exon17:c.1741+1G>C;NM_001243228:exon19:c.1897+1G>C;NM_001243227:exon18:c.1807+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1879+1G>C;ENST00000356073:exon19:c.1867+1G>C;ENST00000568673:exon18:c.1807+1G>C;ENST00000543082:exon17:c.1741+1G>C;ENST00000457482:exon12:c.1399+1G>C;ENST00000540999:exon18:c.1795+1G>C;ENST00000537578:exon18:c.1807+1G>C;ENST00000564999:exon19:c.1867+1G>C;ENST00000568740:exon18:c.1792+1G>C;ENST00000537856:exon14:c.1477+1G>C;ENST00000544241:exon15:c.1666+1G>C;ENST00000561992:exon15:c.1477+1G>C;ENST00000561831:exon12:c.1387+1G>C;ENST00000565018:exon19:c.1879+1G>C;ENST00000566279:exon17:c.1699+1G>C;ENST00000566286:exon18:c.1858+1G>C;ENST00000567880:exon16:c.1687+1G>C;ENST00000564228:exon15:c.1654+1G>C;ENST00000570287:exon12:c.1387+1G>C;ENST00000398339:exon20:c.2185+1G>C;ENST00000564403:exon19:c.1897+1G>C;ENST00000570177:exon14:c.1477+1G>C)	.	.	0.999986675681007	0.934
18	52896077	C	T	18	55228846	y	y	splicing	TCF4(NM_001243226:exon20:c.2185+1G>A;NM_001243230:exon18:c.1858+1G>A;NM_001243234:exon12:c.1399+1G>A;NM_001243232:exon15:c.1666+1G>A;NM_001243236:exon12:c.1387+1G>A;NM_001083962:exon19:c.1879+1G>A;NM_003199:exon19:c.1867+1G>A;NM_001243235:exon12:c.1387+1G>A;NM_001243233:exon15:c.1477+1G>A;NM_001243231:exon17:c.1741+1G>A;NM_001243228:exon19:c.1897+1G>A;NM_001243227:exon18:c.1807+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1879+1G>A;ENST00000356073:exon19:c.1867+1G>A;ENST00000568673:exon18:c.1807+1G>A;ENST00000543082:exon17:c.1741+1G>A;ENST00000457482:exon12:c.1399+1G>A;ENST00000540999:exon18:c.1795+1G>A;ENST00000537578:exon18:c.1807+1G>A;ENST00000564999:exon19:c.1867+1G>A;ENST00000568740:exon18:c.1792+1G>A;ENST00000537856:exon14:c.1477+1G>A;ENST00000544241:exon15:c.1666+1G>A;ENST00000561992:exon15:c.1477+1G>A;ENST00000561831:exon12:c.1387+1G>A;ENST00000565018:exon19:c.1879+1G>A;ENST00000566279:exon17:c.1699+1G>A;ENST00000566286:exon18:c.1858+1G>A;ENST00000567880:exon16:c.1687+1G>A;ENST00000564228:exon15:c.1654+1G>A;ENST00000570287:exon12:c.1387+1G>A;ENST00000398339:exon20:c.2185+1G>A;ENST00000564403:exon19:c.1897+1G>A;ENST00000570177:exon14:c.1477+1G>A)	.	.	0.999986675681007	0.934
18	52896078	C	A	18	55228847	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243236:exon11:c.G1387T:p.E463X;TCF4:NM_001243235:exon11:c.G1387T:p.E463X;TCF4:NM_001243231:exon16:c.G1741T:p.E581X;TCF4:NM_003199:exon18:c.G1867T:p.E623X;TCF4:NM_001243230:exon17:c.G1858T:p.E620X;TCF4:NM_001243232:exon14:c.G1666T:p.E556X;TCF4:NM_001083962:exon18:c.G1879T:p.E627X;TCF4:NM_001243227:exon17:c.G1807T:p.E603X;TCF4:NM_001243234:exon11:c.G1399T:p.E467X;TCF4:NM_001243226:exon19:c.G2185T:p.E729X;TCF4:NM_001243228:exon18:c.G1897T:p.E633X;TCF4:NM_001243233:exon14:c.G1477T:p.E493X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon16:c.G1699T:p.E567X;ENSG00000196628:ENST00000561831:exon11:c.G1387T:p.E463X;ENSG00000196628:ENST00000564999:exon18:c.G1867T:p.E623X;ENSG00000196628:ENST00000568740:exon17:c.G1792T:p.E598X;ENSG00000196628:ENST00000561992:exon14:c.G1477T:p.E493X;ENSG00000196628:ENST00000565018:exon18:c.G1879T:p.E627X;ENSG00000196628:ENST00000354452:exon18:c.G1879T:p.E627X;ENSG00000196628:ENST00000566286:exon17:c.G1858T:p.E620X;ENSG00000196628:ENST00000356073:exon18:c.G1867T:p.E623X;ENSG00000196628:ENST00000543082:exon16:c.G1741T:p.E581X;ENSG00000196628:ENST00000570287:exon11:c.G1387T:p.E463X;ENSG00000196628:ENST00000544241:exon14:c.G1666T:p.E556X;ENSG00000196628:ENST00000537578:exon17:c.G1807T:p.E603X;ENSG00000196628:ENST00000564403:exon18:c.G1897T:p.E633X;ENSG00000196628:ENST00000570177:exon13:c.G1477T:p.E493X;ENSG00000196628:ENST00000457482:exon11:c.G1399T:p.E467X;ENSG00000196628:ENST00000568673:exon17:c.G1807T:p.E603X;ENSG00000196628:ENST00000540999:exon17:c.G1795T:p.E599X;ENSG00000196628:ENST00000537856:exon13:c.G1477T:p.E493X;ENSG00000196628:ENST00000398339:exon19:c.G2185T:p.E729X;ENSG00000196628:ENST00000564228:exon14:c.G1654T:p.E552X;ENSG00000196628:ENST00000567880:exon15:c.G1687T:p.E563X;	0.999974669090112	0.946
18	52896078	C	G	18	55228847	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.G1387C:p.E463Q;TCF4:NM_001243235:exon11:c.G1387C:p.E463Q;TCF4:NM_001243231:exon16:c.G1741C:p.E581Q;TCF4:NM_003199:exon18:c.G1867C:p.E623Q;TCF4:NM_001243230:exon17:c.G1858C:p.E620Q;TCF4:NM_001243232:exon14:c.G1666C:p.E556Q;TCF4:NM_001083962:exon18:c.G1879C:p.E627Q;TCF4:NM_001243227:exon17:c.G1807C:p.E603Q;TCF4:NM_001243234:exon11:c.G1399C:p.E467Q;TCF4:NM_001243226:exon19:c.G2185C:p.E729Q;TCF4:NM_001243228:exon18:c.G1897C:p.E633Q;TCF4:NM_001243233:exon14:c.G1477C:p.E493Q;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.G1699C:p.E567Q;ENSG00000196628:ENST00000561831:exon11:c.G1387C:p.E463Q;ENSG00000196628:ENST00000564999:exon18:c.G1867C:p.E623Q;ENSG00000196628:ENST00000568740:exon17:c.G1792C:p.E598Q;ENSG00000196628:ENST00000561992:exon14:c.G1477C:p.E493Q;ENSG00000196628:ENST00000565018:exon18:c.G1879C:p.E627Q;ENSG00000196628:ENST00000354452:exon18:c.G1879C:p.E627Q;ENSG00000196628:ENST00000566286:exon17:c.G1858C:p.E620Q;ENSG00000196628:ENST00000356073:exon18:c.G1867C:p.E623Q;ENSG00000196628:ENST00000543082:exon16:c.G1741C:p.E581Q;ENSG00000196628:ENST00000570287:exon11:c.G1387C:p.E463Q;ENSG00000196628:ENST00000544241:exon14:c.G1666C:p.E556Q;ENSG00000196628:ENST00000537578:exon17:c.G1807C:p.E603Q;ENSG00000196628:ENST00000564403:exon18:c.G1897C:p.E633Q;ENSG00000196628:ENST00000570177:exon13:c.G1477C:p.E493Q;ENSG00000196628:ENST00000457482:exon11:c.G1399C:p.E467Q;ENSG00000196628:ENST00000568673:exon17:c.G1807C:p.E603Q;ENSG00000196628:ENST00000540999:exon17:c.G1795C:p.E599Q;ENSG00000196628:ENST00000537856:exon13:c.G1477C:p.E493Q;ENSG00000196628:ENST00000398339:exon19:c.G2185C:p.E729Q;ENSG00000196628:ENST00000564228:exon14:c.G1654C:p.E552Q;ENSG00000196628:ENST00000567880:exon15:c.G1687C:p.E563Q;	0.999996849704514	0.992
18	52896078	C	T	18	55228847	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.G1387A:p.E463K;TCF4:NM_001243235:exon11:c.G1387A:p.E463K;TCF4:NM_001243231:exon16:c.G1741A:p.E581K;TCF4:NM_003199:exon18:c.G1867A:p.E623K;TCF4:NM_001243230:exon17:c.G1858A:p.E620K;TCF4:NM_001243232:exon14:c.G1666A:p.E556K;TCF4:NM_001083962:exon18:c.G1879A:p.E627K;TCF4:NM_001243227:exon17:c.G1807A:p.E603K;TCF4:NM_001243234:exon11:c.G1399A:p.E467K;TCF4:NM_001243226:exon19:c.G2185A:p.E729K;TCF4:NM_001243228:exon18:c.G1897A:p.E633K;TCF4:NM_001243233:exon14:c.G1477A:p.E493K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.G1699A:p.E567K;ENSG00000196628:ENST00000561831:exon11:c.G1387A:p.E463K;ENSG00000196628:ENST00000564999:exon18:c.G1867A:p.E623K;ENSG00000196628:ENST00000568740:exon17:c.G1792A:p.E598K;ENSG00000196628:ENST00000561992:exon14:c.G1477A:p.E493K;ENSG00000196628:ENST00000565018:exon18:c.G1879A:p.E627K;ENSG00000196628:ENST00000354452:exon18:c.G1879A:p.E627K;ENSG00000196628:ENST00000566286:exon17:c.G1858A:p.E620K;ENSG00000196628:ENST00000356073:exon18:c.G1867A:p.E623K;ENSG00000196628:ENST00000543082:exon16:c.G1741A:p.E581K;ENSG00000196628:ENST00000570287:exon11:c.G1387A:p.E463K;ENSG00000196628:ENST00000544241:exon14:c.G1666A:p.E556K;ENSG00000196628:ENST00000537578:exon17:c.G1807A:p.E603K;ENSG00000196628:ENST00000564403:exon18:c.G1897A:p.E633K;ENSG00000196628:ENST00000570177:exon13:c.G1477A:p.E493K;ENSG00000196628:ENST00000457482:exon11:c.G1399A:p.E467K;ENSG00000196628:ENST00000568673:exon17:c.G1807A:p.E603K;ENSG00000196628:ENST00000540999:exon17:c.G1795A:p.E599K;ENSG00000196628:ENST00000537856:exon13:c.G1477A:p.E493K;ENSG00000196628:ENST00000398339:exon19:c.G2185A:p.E729K;ENSG00000196628:ENST00000564228:exon14:c.G1654A:p.E552K;ENSG00000196628:ENST00000567880:exon15:c.G1687A:p.E563K;	0.999989810337545	1.0
18	52896079	T	A	18	55228848	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon11:c.A1386T:p.R462R;TCF4:NM_001243235:exon11:c.A1386T:p.R462R;TCF4:NM_001243231:exon16:c.A1740T:p.R580R;TCF4:NM_003199:exon18:c.A1866T:p.R622R;TCF4:NM_001243230:exon17:c.A1857T:p.R619R;TCF4:NM_001243232:exon14:c.A1665T:p.R555R;TCF4:NM_001083962:exon18:c.A1878T:p.R626R;TCF4:NM_001243227:exon17:c.A1806T:p.R602R;TCF4:NM_001243234:exon11:c.A1398T:p.R466R;TCF4:NM_001243226:exon19:c.A2184T:p.R728R;TCF4:NM_001243228:exon18:c.A1896T:p.R632R;TCF4:NM_001243233:exon14:c.A1476T:p.R492R;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.A1698T:p.R566R;ENSG00000196628:ENST00000561831:exon11:c.A1386T:p.R462R;ENSG00000196628:ENST00000564999:exon18:c.A1866T:p.R622R;ENSG00000196628:ENST00000568740:exon17:c.A1791T:p.R597R;ENSG00000196628:ENST00000561992:exon14:c.A1476T:p.R492R;ENSG00000196628:ENST00000565018:exon18:c.A1878T:p.R626R;ENSG00000196628:ENST00000354452:exon18:c.A1878T:p.R626R;ENSG00000196628:ENST00000566286:exon17:c.A1857T:p.R619R;ENSG00000196628:ENST00000356073:exon18:c.A1866T:p.R622R;ENSG00000196628:ENST00000543082:exon16:c.A1740T:p.R580R;ENSG00000196628:ENST00000570287:exon11:c.A1386T:p.R462R;ENSG00000196628:ENST00000544241:exon14:c.A1665T:p.R555R;ENSG00000196628:ENST00000537578:exon17:c.A1806T:p.R602R;ENSG00000196628:ENST00000564403:exon18:c.A1896T:p.R632R;ENSG00000196628:ENST00000570177:exon13:c.A1476T:p.R492R;ENSG00000196628:ENST00000457482:exon11:c.A1398T:p.R466R;ENSG00000196628:ENST00000568673:exon17:c.A1806T:p.R602R;ENSG00000196628:ENST00000540999:exon17:c.A1794T:p.R598R;ENSG00000196628:ENST00000537856:exon13:c.A1476T:p.R492R;ENSG00000196628:ENST00000398339:exon19:c.A2184T:p.R728R;ENSG00000196628:ENST00000564228:exon14:c.A1653T:p.R551R;ENSG00000196628:ENST00000567880:exon15:c.A1686T:p.R562R;	0.997020567661599	0.926
18	52896079	T	C	18	55228848	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon11:c.A1386G:p.R462R;TCF4:NM_001243235:exon11:c.A1386G:p.R462R;TCF4:NM_001243231:exon16:c.A1740G:p.R580R;TCF4:NM_003199:exon18:c.A1866G:p.R622R;TCF4:NM_001243230:exon17:c.A1857G:p.R619R;TCF4:NM_001243232:exon14:c.A1665G:p.R555R;TCF4:NM_001083962:exon18:c.A1878G:p.R626R;TCF4:NM_001243227:exon17:c.A1806G:p.R602R;TCF4:NM_001243234:exon11:c.A1398G:p.R466R;TCF4:NM_001243226:exon19:c.A2184G:p.R728R;TCF4:NM_001243228:exon18:c.A1896G:p.R632R;TCF4:NM_001243233:exon14:c.A1476G:p.R492R;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.A1698G:p.R566R;ENSG00000196628:ENST00000561831:exon11:c.A1386G:p.R462R;ENSG00000196628:ENST00000564999:exon18:c.A1866G:p.R622R;ENSG00000196628:ENST00000568740:exon17:c.A1791G:p.R597R;ENSG00000196628:ENST00000561992:exon14:c.A1476G:p.R492R;ENSG00000196628:ENST00000565018:exon18:c.A1878G:p.R626R;ENSG00000196628:ENST00000354452:exon18:c.A1878G:p.R626R;ENSG00000196628:ENST00000566286:exon17:c.A1857G:p.R619R;ENSG00000196628:ENST00000356073:exon18:c.A1866G:p.R622R;ENSG00000196628:ENST00000543082:exon16:c.A1740G:p.R580R;ENSG00000196628:ENST00000570287:exon11:c.A1386G:p.R462R;ENSG00000196628:ENST00000544241:exon14:c.A1665G:p.R555R;ENSG00000196628:ENST00000537578:exon17:c.A1806G:p.R602R;ENSG00000196628:ENST00000564403:exon18:c.A1896G:p.R632R;ENSG00000196628:ENST00000570177:exon13:c.A1476G:p.R492R;ENSG00000196628:ENST00000457482:exon11:c.A1398G:p.R466R;ENSG00000196628:ENST00000568673:exon17:c.A1806G:p.R602R;ENSG00000196628:ENST00000540999:exon17:c.A1794G:p.R598R;ENSG00000196628:ENST00000537856:exon13:c.A1476G:p.R492R;ENSG00000196628:ENST00000398339:exon19:c.A2184G:p.R728R;ENSG00000196628:ENST00000564228:exon14:c.A1653G:p.R551R;ENSG00000196628:ENST00000567880:exon15:c.A1686G:p.R562R;	0.997550017945853	0.932
18	52896079	T	G	18	55228848	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon11:c.A1386C:p.R462R;TCF4:NM_001243235:exon11:c.A1386C:p.R462R;TCF4:NM_001243231:exon16:c.A1740C:p.R580R;TCF4:NM_003199:exon18:c.A1866C:p.R622R;TCF4:NM_001243230:exon17:c.A1857C:p.R619R;TCF4:NM_001243232:exon14:c.A1665C:p.R555R;TCF4:NM_001083962:exon18:c.A1878C:p.R626R;TCF4:NM_001243227:exon17:c.A1806C:p.R602R;TCF4:NM_001243234:exon11:c.A1398C:p.R466R;TCF4:NM_001243226:exon19:c.A2184C:p.R728R;TCF4:NM_001243228:exon18:c.A1896C:p.R632R;TCF4:NM_001243233:exon14:c.A1476C:p.R492R;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.A1698C:p.R566R;ENSG00000196628:ENST00000561831:exon11:c.A1386C:p.R462R;ENSG00000196628:ENST00000564999:exon18:c.A1866C:p.R622R;ENSG00000196628:ENST00000568740:exon17:c.A1791C:p.R597R;ENSG00000196628:ENST00000561992:exon14:c.A1476C:p.R492R;ENSG00000196628:ENST00000565018:exon18:c.A1878C:p.R626R;ENSG00000196628:ENST00000354452:exon18:c.A1878C:p.R626R;ENSG00000196628:ENST00000566286:exon17:c.A1857C:p.R619R;ENSG00000196628:ENST00000356073:exon18:c.A1866C:p.R622R;ENSG00000196628:ENST00000543082:exon16:c.A1740C:p.R580R;ENSG00000196628:ENST00000570287:exon11:c.A1386C:p.R462R;ENSG00000196628:ENST00000544241:exon14:c.A1665C:p.R555R;ENSG00000196628:ENST00000537578:exon17:c.A1806C:p.R602R;ENSG00000196628:ENST00000564403:exon18:c.A1896C:p.R632R;ENSG00000196628:ENST00000570177:exon13:c.A1476C:p.R492R;ENSG00000196628:ENST00000457482:exon11:c.A1398C:p.R466R;ENSG00000196628:ENST00000568673:exon17:c.A1806C:p.R602R;ENSG00000196628:ENST00000540999:exon17:c.A1794C:p.R598R;ENSG00000196628:ENST00000537856:exon13:c.A1476C:p.R492R;ENSG00000196628:ENST00000398339:exon19:c.A2184C:p.R728R;ENSG00000196628:ENST00000564228:exon14:c.A1653C:p.R551R;ENSG00000196628:ENST00000567880:exon15:c.A1686C:p.R562R;	0.962434791399712	0.754
18	52896080	C	A	18	55228849	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.G1385T:p.R462L;TCF4:NM_001243235:exon11:c.G1385T:p.R462L;TCF4:NM_001243231:exon16:c.G1739T:p.R580L;TCF4:NM_003199:exon18:c.G1865T:p.R622L;TCF4:NM_001243230:exon17:c.G1856T:p.R619L;TCF4:NM_001243232:exon14:c.G1664T:p.R555L;TCF4:NM_001083962:exon18:c.G1877T:p.R626L;TCF4:NM_001243227:exon17:c.G1805T:p.R602L;TCF4:NM_001243234:exon11:c.G1397T:p.R466L;TCF4:NM_001243226:exon19:c.G2183T:p.R728L;TCF4:NM_001243228:exon18:c.G1895T:p.R632L;TCF4:NM_001243233:exon14:c.G1475T:p.R492L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.G1697T:p.R566L;ENSG00000196628:ENST00000561831:exon11:c.G1385T:p.R462L;ENSG00000196628:ENST00000564999:exon18:c.G1865T:p.R622L;ENSG00000196628:ENST00000568740:exon17:c.G1790T:p.R597L;ENSG00000196628:ENST00000561992:exon14:c.G1475T:p.R492L;ENSG00000196628:ENST00000565018:exon18:c.G1877T:p.R626L;ENSG00000196628:ENST00000354452:exon18:c.G1877T:p.R626L;ENSG00000196628:ENST00000566286:exon17:c.G1856T:p.R619L;ENSG00000196628:ENST00000356073:exon18:c.G1865T:p.R622L;ENSG00000196628:ENST00000543082:exon16:c.G1739T:p.R580L;ENSG00000196628:ENST00000570287:exon11:c.G1385T:p.R462L;ENSG00000196628:ENST00000544241:exon14:c.G1664T:p.R555L;ENSG00000196628:ENST00000537578:exon17:c.G1805T:p.R602L;ENSG00000196628:ENST00000564403:exon18:c.G1895T:p.R632L;ENSG00000196628:ENST00000570177:exon13:c.G1475T:p.R492L;ENSG00000196628:ENST00000457482:exon11:c.G1397T:p.R466L;ENSG00000196628:ENST00000568673:exon17:c.G1805T:p.R602L;ENSG00000196628:ENST00000540999:exon17:c.G1793T:p.R598L;ENSG00000196628:ENST00000537856:exon13:c.G1475T:p.R492L;ENSG00000196628:ENST00000398339:exon19:c.G2183T:p.R728L;ENSG00000196628:ENST00000564228:exon14:c.G1652T:p.R551L;ENSG00000196628:ENST00000567880:exon15:c.G1685T:p.R562L;	0.153499284540255	0.43
18	52896080	C	G	18	55228849	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.G1385C:p.R462P;TCF4:NM_001243235:exon11:c.G1385C:p.R462P;TCF4:NM_001243231:exon16:c.G1739C:p.R580P;TCF4:NM_003199:exon18:c.G1865C:p.R622P;TCF4:NM_001243230:exon17:c.G1856C:p.R619P;TCF4:NM_001243232:exon14:c.G1664C:p.R555P;TCF4:NM_001083962:exon18:c.G1877C:p.R626P;TCF4:NM_001243227:exon17:c.G1805C:p.R602P;TCF4:NM_001243234:exon11:c.G1397C:p.R466P;TCF4:NM_001243226:exon19:c.G2183C:p.R728P;TCF4:NM_001243228:exon18:c.G1895C:p.R632P;TCF4:NM_001243233:exon14:c.G1475C:p.R492P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.G1697C:p.R566P;ENSG00000196628:ENST00000561831:exon11:c.G1385C:p.R462P;ENSG00000196628:ENST00000564999:exon18:c.G1865C:p.R622P;ENSG00000196628:ENST00000568740:exon17:c.G1790C:p.R597P;ENSG00000196628:ENST00000561992:exon14:c.G1475C:p.R492P;ENSG00000196628:ENST00000565018:exon18:c.G1877C:p.R626P;ENSG00000196628:ENST00000354452:exon18:c.G1877C:p.R626P;ENSG00000196628:ENST00000566286:exon17:c.G1856C:p.R619P;ENSG00000196628:ENST00000356073:exon18:c.G1865C:p.R622P;ENSG00000196628:ENST00000543082:exon16:c.G1739C:p.R580P;ENSG00000196628:ENST00000570287:exon11:c.G1385C:p.R462P;ENSG00000196628:ENST00000544241:exon14:c.G1664C:p.R555P;ENSG00000196628:ENST00000537578:exon17:c.G1805C:p.R602P;ENSG00000196628:ENST00000564403:exon18:c.G1895C:p.R632P;ENSG00000196628:ENST00000570177:exon13:c.G1475C:p.R492P;ENSG00000196628:ENST00000457482:exon11:c.G1397C:p.R466P;ENSG00000196628:ENST00000568673:exon17:c.G1805C:p.R602P;ENSG00000196628:ENST00000540999:exon17:c.G1793C:p.R598P;ENSG00000196628:ENST00000537856:exon13:c.G1475C:p.R492P;ENSG00000196628:ENST00000398339:exon19:c.G2183C:p.R728P;ENSG00000196628:ENST00000564228:exon14:c.G1652C:p.R551P;ENSG00000196628:ENST00000567880:exon15:c.G1685C:p.R562P;	0.0317806942289101	0.426
18	52896080	C	T	18	55228849	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.G1385A:p.R462Q;TCF4:NM_001243235:exon11:c.G1385A:p.R462Q;TCF4:NM_001243231:exon16:c.G1739A:p.R580Q;TCF4:NM_003199:exon18:c.G1865A:p.R622Q;TCF4:NM_001243230:exon17:c.G1856A:p.R619Q;TCF4:NM_001243232:exon14:c.G1664A:p.R555Q;TCF4:NM_001083962:exon18:c.G1877A:p.R626Q;TCF4:NM_001243227:exon17:c.G1805A:p.R602Q;TCF4:NM_001243234:exon11:c.G1397A:p.R466Q;TCF4:NM_001243226:exon19:c.G2183A:p.R728Q;TCF4:NM_001243228:exon18:c.G1895A:p.R632Q;TCF4:NM_001243233:exon14:c.G1475A:p.R492Q;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.G1697A:p.R566Q;ENSG00000196628:ENST00000561831:exon11:c.G1385A:p.R462Q;ENSG00000196628:ENST00000564999:exon18:c.G1865A:p.R622Q;ENSG00000196628:ENST00000568740:exon17:c.G1790A:p.R597Q;ENSG00000196628:ENST00000561992:exon14:c.G1475A:p.R492Q;ENSG00000196628:ENST00000565018:exon18:c.G1877A:p.R626Q;ENSG00000196628:ENST00000354452:exon18:c.G1877A:p.R626Q;ENSG00000196628:ENST00000566286:exon17:c.G1856A:p.R619Q;ENSG00000196628:ENST00000356073:exon18:c.G1865A:p.R622Q;ENSG00000196628:ENST00000543082:exon16:c.G1739A:p.R580Q;ENSG00000196628:ENST00000570287:exon11:c.G1385A:p.R462Q;ENSG00000196628:ENST00000544241:exon14:c.G1664A:p.R555Q;ENSG00000196628:ENST00000537578:exon17:c.G1805A:p.R602Q;ENSG00000196628:ENST00000564403:exon18:c.G1895A:p.R632Q;ENSG00000196628:ENST00000570177:exon13:c.G1475A:p.R492Q;ENSG00000196628:ENST00000457482:exon11:c.G1397A:p.R466Q;ENSG00000196628:ENST00000568673:exon17:c.G1805A:p.R602Q;ENSG00000196628:ENST00000540999:exon17:c.G1793A:p.R598Q;ENSG00000196628:ENST00000537856:exon13:c.G1475A:p.R492Q;ENSG00000196628:ENST00000398339:exon19:c.G2183A:p.R728Q;ENSG00000196628:ENST00000564228:exon14:c.G1652A:p.R551Q;ENSG00000196628:ENST00000567880:exon15:c.G1685A:p.R562Q;	0.0567303806425109	0.548
18	52896306	T	A	18	55229075	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.A1159T:p.N387Y;TCF4:NM_001243235:exon11:c.A1159T:p.N387Y;TCF4:NM_001243231:exon16:c.A1513T:p.N505Y;TCF4:NM_003199:exon18:c.A1639T:p.N547Y;TCF4:NM_001243230:exon17:c.A1630T:p.N544Y;TCF4:NM_001243232:exon14:c.A1438T:p.N480Y;TCF4:NM_001083962:exon18:c.A1651T:p.N551Y;TCF4:NM_001243227:exon17:c.A1579T:p.N527Y;TCF4:NM_001243234:exon11:c.A1171T:p.N391Y;TCF4:NM_001243226:exon19:c.A1957T:p.N653Y;TCF4:NM_001243228:exon18:c.A1669T:p.N557Y;TCF4:NM_001243233:exon14:c.A1249T:p.N417Y;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.A1471T:p.N491Y;ENSG00000196628:ENST00000561831:exon11:c.A1159T:p.N387Y;ENSG00000196628:ENST00000564999:exon18:c.A1639T:p.N547Y;ENSG00000196628:ENST00000568740:exon17:c.A1564T:p.N522Y;ENSG00000196628:ENST00000561992:exon14:c.A1249T:p.N417Y;ENSG00000196628:ENST00000565018:exon18:c.A1651T:p.N551Y;ENSG00000196628:ENST00000354452:exon18:c.A1651T:p.N551Y;ENSG00000196628:ENST00000566286:exon17:c.A1630T:p.N544Y;ENSG00000196628:ENST00000356073:exon18:c.A1639T:p.N547Y;ENSG00000196628:ENST00000543082:exon16:c.A1513T:p.N505Y;ENSG00000196628:ENST00000570287:exon11:c.A1159T:p.N387Y;ENSG00000196628:ENST00000544241:exon14:c.A1438T:p.N480Y;ENSG00000196628:ENST00000537578:exon17:c.A1579T:p.N527Y;ENSG00000196628:ENST00000564403:exon18:c.A1669T:p.N557Y;ENSG00000196628:ENST00000570177:exon13:c.A1249T:p.N417Y;ENSG00000196628:ENST00000457482:exon11:c.A1171T:p.N391Y;ENSG00000196628:ENST00000568673:exon17:c.A1579T:p.N527Y;ENSG00000196628:ENST00000540999:exon17:c.A1567T:p.N523Y;ENSG00000196628:ENST00000537856:exon13:c.A1249T:p.N417Y;ENSG00000196628:ENST00000398339:exon19:c.A1957T:p.N653Y;ENSG00000196628:ENST00000564228:exon14:c.A1426T:p.N476Y;ENSG00000196628:ENST00000567880:exon15:c.A1459T:p.N487Y;	0.879234239619864	0.694
18	52896306	T	C	18	55229075	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.A1159G:p.N387D;TCF4:NM_001243235:exon11:c.A1159G:p.N387D;TCF4:NM_001243231:exon16:c.A1513G:p.N505D;TCF4:NM_003199:exon18:c.A1639G:p.N547D;TCF4:NM_001243230:exon17:c.A1630G:p.N544D;TCF4:NM_001243232:exon14:c.A1438G:p.N480D;TCF4:NM_001083962:exon18:c.A1651G:p.N551D;TCF4:NM_001243227:exon17:c.A1579G:p.N527D;TCF4:NM_001243234:exon11:c.A1171G:p.N391D;TCF4:NM_001243226:exon19:c.A1957G:p.N653D;TCF4:NM_001243228:exon18:c.A1669G:p.N557D;TCF4:NM_001243233:exon14:c.A1249G:p.N417D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.A1471G:p.N491D;ENSG00000196628:ENST00000561831:exon11:c.A1159G:p.N387D;ENSG00000196628:ENST00000564999:exon18:c.A1639G:p.N547D;ENSG00000196628:ENST00000568740:exon17:c.A1564G:p.N522D;ENSG00000196628:ENST00000561992:exon14:c.A1249G:p.N417D;ENSG00000196628:ENST00000565018:exon18:c.A1651G:p.N551D;ENSG00000196628:ENST00000354452:exon18:c.A1651G:p.N551D;ENSG00000196628:ENST00000566286:exon17:c.A1630G:p.N544D;ENSG00000196628:ENST00000356073:exon18:c.A1639G:p.N547D;ENSG00000196628:ENST00000543082:exon16:c.A1513G:p.N505D;ENSG00000196628:ENST00000570287:exon11:c.A1159G:p.N387D;ENSG00000196628:ENST00000544241:exon14:c.A1438G:p.N480D;ENSG00000196628:ENST00000537578:exon17:c.A1579G:p.N527D;ENSG00000196628:ENST00000564403:exon18:c.A1669G:p.N557D;ENSG00000196628:ENST00000570177:exon13:c.A1249G:p.N417D;ENSG00000196628:ENST00000457482:exon11:c.A1171G:p.N391D;ENSG00000196628:ENST00000568673:exon17:c.A1579G:p.N527D;ENSG00000196628:ENST00000540999:exon17:c.A1567G:p.N523D;ENSG00000196628:ENST00000537856:exon13:c.A1249G:p.N417D;ENSG00000196628:ENST00000398339:exon19:c.A1957G:p.N653D;ENSG00000196628:ENST00000564228:exon14:c.A1426G:p.N476D;ENSG00000196628:ENST00000567880:exon15:c.A1459G:p.N487D;	0.00562381837989483	0.03
18	52896306	T	G	18	55229075	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.A1159C:p.N387H;TCF4:NM_001243235:exon11:c.A1159C:p.N387H;TCF4:NM_001243231:exon16:c.A1513C:p.N505H;TCF4:NM_003199:exon18:c.A1639C:p.N547H;TCF4:NM_001243230:exon17:c.A1630C:p.N544H;TCF4:NM_001243232:exon14:c.A1438C:p.N480H;TCF4:NM_001083962:exon18:c.A1651C:p.N551H;TCF4:NM_001243227:exon17:c.A1579C:p.N527H;TCF4:NM_001243234:exon11:c.A1171C:p.N391H;TCF4:NM_001243226:exon19:c.A1957C:p.N653H;TCF4:NM_001243228:exon18:c.A1669C:p.N557H;TCF4:NM_001243233:exon14:c.A1249C:p.N417H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.A1471C:p.N491H;ENSG00000196628:ENST00000561831:exon11:c.A1159C:p.N387H;ENSG00000196628:ENST00000564999:exon18:c.A1639C:p.N547H;ENSG00000196628:ENST00000568740:exon17:c.A1564C:p.N522H;ENSG00000196628:ENST00000561992:exon14:c.A1249C:p.N417H;ENSG00000196628:ENST00000565018:exon18:c.A1651C:p.N551H;ENSG00000196628:ENST00000354452:exon18:c.A1651C:p.N551H;ENSG00000196628:ENST00000566286:exon17:c.A1630C:p.N544H;ENSG00000196628:ENST00000356073:exon18:c.A1639C:p.N547H;ENSG00000196628:ENST00000543082:exon16:c.A1513C:p.N505H;ENSG00000196628:ENST00000570287:exon11:c.A1159C:p.N387H;ENSG00000196628:ENST00000544241:exon14:c.A1438C:p.N480H;ENSG00000196628:ENST00000537578:exon17:c.A1579C:p.N527H;ENSG00000196628:ENST00000564403:exon18:c.A1669C:p.N557H;ENSG00000196628:ENST00000570177:exon13:c.A1249C:p.N417H;ENSG00000196628:ENST00000457482:exon11:c.A1171C:p.N391H;ENSG00000196628:ENST00000568673:exon17:c.A1579C:p.N527H;ENSG00000196628:ENST00000540999:exon17:c.A1567C:p.N523H;ENSG00000196628:ENST00000537856:exon13:c.A1249C:p.N417H;ENSG00000196628:ENST00000398339:exon19:c.A1957C:p.N653H;ENSG00000196628:ENST00000564228:exon14:c.A1426C:p.N476H;ENSG00000196628:ENST00000567880:exon15:c.A1459C:p.N487H;	0.882168704744569	0.75
18	52896307	G	A	18	55229076	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon11:c.C1158T:p.S386S;TCF4:NM_001243235:exon11:c.C1158T:p.S386S;TCF4:NM_001243231:exon16:c.C1512T:p.S504S;TCF4:NM_003199:exon18:c.C1638T:p.S546S;TCF4:NM_001243230:exon17:c.C1629T:p.S543S;TCF4:NM_001243232:exon14:c.C1437T:p.S479S;TCF4:NM_001083962:exon18:c.C1650T:p.S550S;TCF4:NM_001243227:exon17:c.C1578T:p.S526S;TCF4:NM_001243234:exon11:c.C1170T:p.S390S;TCF4:NM_001243226:exon19:c.C1956T:p.S652S;TCF4:NM_001243228:exon18:c.C1668T:p.S556S;TCF4:NM_001243233:exon14:c.C1248T:p.S416S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.C1470T:p.S490S;ENSG00000196628:ENST00000561831:exon11:c.C1158T:p.S386S;ENSG00000196628:ENST00000564999:exon18:c.C1638T:p.S546S;ENSG00000196628:ENST00000568740:exon17:c.C1563T:p.S521S;ENSG00000196628:ENST00000561992:exon14:c.C1248T:p.S416S;ENSG00000196628:ENST00000565018:exon18:c.C1650T:p.S550S;ENSG00000196628:ENST00000354452:exon18:c.C1650T:p.S550S;ENSG00000196628:ENST00000566286:exon17:c.C1629T:p.S543S;ENSG00000196628:ENST00000356073:exon18:c.C1638T:p.S546S;ENSG00000196628:ENST00000543082:exon16:c.C1512T:p.S504S;ENSG00000196628:ENST00000570287:exon11:c.C1158T:p.S386S;ENSG00000196628:ENST00000544241:exon14:c.C1437T:p.S479S;ENSG00000196628:ENST00000537578:exon17:c.C1578T:p.S526S;ENSG00000196628:ENST00000564403:exon18:c.C1668T:p.S556S;ENSG00000196628:ENST00000570177:exon13:c.C1248T:p.S416S;ENSG00000196628:ENST00000457482:exon11:c.C1170T:p.S390S;ENSG00000196628:ENST00000568673:exon17:c.C1578T:p.S526S;ENSG00000196628:ENST00000540999:exon17:c.C1566T:p.S522S;ENSG00000196628:ENST00000537856:exon13:c.C1248T:p.S416S;ENSG00000196628:ENST00000398339:exon19:c.C1956T:p.S652S;ENSG00000196628:ENST00000564228:exon14:c.C1425T:p.S475S;ENSG00000196628:ENST00000567880:exon15:c.C1458T:p.S486S;	0.0561345240858643	0.258
18	52896307	G	C	18	55229076	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.C1158G:p.S386R;TCF4:NM_001243235:exon11:c.C1158G:p.S386R;TCF4:NM_001243231:exon16:c.C1512G:p.S504R;TCF4:NM_003199:exon18:c.C1638G:p.S546R;TCF4:NM_001243230:exon17:c.C1629G:p.S543R;TCF4:NM_001243232:exon14:c.C1437G:p.S479R;TCF4:NM_001083962:exon18:c.C1650G:p.S550R;TCF4:NM_001243227:exon17:c.C1578G:p.S526R;TCF4:NM_001243234:exon11:c.C1170G:p.S390R;TCF4:NM_001243226:exon19:c.C1956G:p.S652R;TCF4:NM_001243228:exon18:c.C1668G:p.S556R;TCF4:NM_001243233:exon14:c.C1248G:p.S416R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.C1470G:p.S490R;ENSG00000196628:ENST00000561831:exon11:c.C1158G:p.S386R;ENSG00000196628:ENST00000564999:exon18:c.C1638G:p.S546R;ENSG00000196628:ENST00000568740:exon17:c.C1563G:p.S521R;ENSG00000196628:ENST00000561992:exon14:c.C1248G:p.S416R;ENSG00000196628:ENST00000565018:exon18:c.C1650G:p.S550R;ENSG00000196628:ENST00000354452:exon18:c.C1650G:p.S550R;ENSG00000196628:ENST00000566286:exon17:c.C1629G:p.S543R;ENSG00000196628:ENST00000356073:exon18:c.C1638G:p.S546R;ENSG00000196628:ENST00000543082:exon16:c.C1512G:p.S504R;ENSG00000196628:ENST00000570287:exon11:c.C1158G:p.S386R;ENSG00000196628:ENST00000544241:exon14:c.C1437G:p.S479R;ENSG00000196628:ENST00000537578:exon17:c.C1578G:p.S526R;ENSG00000196628:ENST00000564403:exon18:c.C1668G:p.S556R;ENSG00000196628:ENST00000570177:exon13:c.C1248G:p.S416R;ENSG00000196628:ENST00000457482:exon11:c.C1170G:p.S390R;ENSG00000196628:ENST00000568673:exon17:c.C1578G:p.S526R;ENSG00000196628:ENST00000540999:exon17:c.C1566G:p.S522R;ENSG00000196628:ENST00000537856:exon13:c.C1248G:p.S416R;ENSG00000196628:ENST00000398339:exon19:c.C1956G:p.S652R;ENSG00000196628:ENST00000564228:exon14:c.C1425G:p.S475R;ENSG00000196628:ENST00000567880:exon15:c.C1458G:p.S486R;	0.975227087099617	0.696
18	52896307	G	T	18	55229076	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon11:c.C1158A:p.S386R;TCF4:NM_001243235:exon11:c.C1158A:p.S386R;TCF4:NM_001243231:exon16:c.C1512A:p.S504R;TCF4:NM_003199:exon18:c.C1638A:p.S546R;TCF4:NM_001243230:exon17:c.C1629A:p.S543R;TCF4:NM_001243232:exon14:c.C1437A:p.S479R;TCF4:NM_001083962:exon18:c.C1650A:p.S550R;TCF4:NM_001243227:exon17:c.C1578A:p.S526R;TCF4:NM_001243234:exon11:c.C1170A:p.S390R;TCF4:NM_001243226:exon19:c.C1956A:p.S652R;TCF4:NM_001243228:exon18:c.C1668A:p.S556R;TCF4:NM_001243233:exon14:c.C1248A:p.S416R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon16:c.C1470A:p.S490R;ENSG00000196628:ENST00000561831:exon11:c.C1158A:p.S386R;ENSG00000196628:ENST00000564999:exon18:c.C1638A:p.S546R;ENSG00000196628:ENST00000568740:exon17:c.C1563A:p.S521R;ENSG00000196628:ENST00000561992:exon14:c.C1248A:p.S416R;ENSG00000196628:ENST00000565018:exon18:c.C1650A:p.S550R;ENSG00000196628:ENST00000354452:exon18:c.C1650A:p.S550R;ENSG00000196628:ENST00000566286:exon17:c.C1629A:p.S543R;ENSG00000196628:ENST00000356073:exon18:c.C1638A:p.S546R;ENSG00000196628:ENST00000543082:exon16:c.C1512A:p.S504R;ENSG00000196628:ENST00000570287:exon11:c.C1158A:p.S386R;ENSG00000196628:ENST00000544241:exon14:c.C1437A:p.S479R;ENSG00000196628:ENST00000537578:exon17:c.C1578A:p.S526R;ENSG00000196628:ENST00000564403:exon18:c.C1668A:p.S556R;ENSG00000196628:ENST00000570177:exon13:c.C1248A:p.S416R;ENSG00000196628:ENST00000457482:exon11:c.C1170A:p.S390R;ENSG00000196628:ENST00000568673:exon17:c.C1578A:p.S526R;ENSG00000196628:ENST00000540999:exon17:c.C1566A:p.S522R;ENSG00000196628:ENST00000537856:exon13:c.C1248A:p.S416R;ENSG00000196628:ENST00000398339:exon19:c.C1956A:p.S652R;ENSG00000196628:ENST00000564228:exon14:c.C1425A:p.S475R;ENSG00000196628:ENST00000567880:exon15:c.C1458A:p.S486R;	0.969404554176688	0.814
18	52896308	C	A	18	55229077	y	y	splicing	TCF4(NM_001243226:exon20:c.1956-1G>T;NM_001243230:exon18:c.1629-1G>T;NM_001243234:exon12:c.1170-1G>T;NM_001243232:exon15:c.1437-1G>T;NM_001243236:exon12:c.1158-1G>T;NM_001083962:exon19:c.1650-1G>T;NM_003199:exon19:c.1638-1G>T;NM_001243235:exon12:c.1158-1G>T;NM_001243233:exon15:c.1248-1G>T;NM_001243231:exon17:c.1512-1G>T;NM_001243228:exon19:c.1668-1G>T;NM_001243227:exon18:c.1578-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1650-1G>T;ENST00000356073:exon19:c.1638-1G>T;ENST00000568673:exon18:c.1578-1G>T;ENST00000543082:exon17:c.1512-1G>T;ENST00000457482:exon12:c.1170-1G>T;ENST00000540999:exon18:c.1566-1G>T;ENST00000537578:exon18:c.1578-1G>T;ENST00000564999:exon19:c.1638-1G>T;ENST00000568740:exon18:c.1563-1G>T;ENST00000537856:exon14:c.1248-1G>T;ENST00000544241:exon15:c.1437-1G>T;ENST00000561992:exon15:c.1248-1G>T;ENST00000561831:exon12:c.1158-1G>T;ENST00000565018:exon19:c.1650-1G>T;ENST00000566279:exon17:c.1470-1G>T;ENST00000566286:exon18:c.1629-1G>T;ENST00000567880:exon16:c.1458-1G>T;ENST00000564228:exon15:c.1425-1G>T;ENST00000570287:exon12:c.1158-1G>T;ENST00000398339:exon20:c.1956-1G>T;ENST00000564403:exon19:c.1668-1G>T;ENST00000570177:exon14:c.1248-1G>T)	.	.	0.999989072007339	0.934
18	52896308	C	G	18	55229077	y	y	splicing	TCF4(NM_001243226:exon20:c.1956-1G>C;NM_001243230:exon18:c.1629-1G>C;NM_001243234:exon12:c.1170-1G>C;NM_001243232:exon15:c.1437-1G>C;NM_001243236:exon12:c.1158-1G>C;NM_001083962:exon19:c.1650-1G>C;NM_003199:exon19:c.1638-1G>C;NM_001243235:exon12:c.1158-1G>C;NM_001243233:exon15:c.1248-1G>C;NM_001243231:exon17:c.1512-1G>C;NM_001243228:exon19:c.1668-1G>C;NM_001243227:exon18:c.1578-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1650-1G>C;ENST00000356073:exon19:c.1638-1G>C;ENST00000568673:exon18:c.1578-1G>C;ENST00000543082:exon17:c.1512-1G>C;ENST00000457482:exon12:c.1170-1G>C;ENST00000540999:exon18:c.1566-1G>C;ENST00000537578:exon18:c.1578-1G>C;ENST00000564999:exon19:c.1638-1G>C;ENST00000568740:exon18:c.1563-1G>C;ENST00000537856:exon14:c.1248-1G>C;ENST00000544241:exon15:c.1437-1G>C;ENST00000561992:exon15:c.1248-1G>C;ENST00000561831:exon12:c.1158-1G>C;ENST00000565018:exon19:c.1650-1G>C;ENST00000566279:exon17:c.1470-1G>C;ENST00000566286:exon18:c.1629-1G>C;ENST00000567880:exon16:c.1458-1G>C;ENST00000564228:exon15:c.1425-1G>C;ENST00000570287:exon12:c.1158-1G>C;ENST00000398339:exon20:c.1956-1G>C;ENST00000564403:exon19:c.1668-1G>C;ENST00000570177:exon14:c.1248-1G>C)	.	.	0.999989072007339	0.934
18	52896308	C	T	18	55229077	y	y	splicing	TCF4(NM_001243226:exon20:c.1956-1G>A;NM_001243230:exon18:c.1629-1G>A;NM_001243234:exon12:c.1170-1G>A;NM_001243232:exon15:c.1437-1G>A;NM_001243236:exon12:c.1158-1G>A;NM_001083962:exon19:c.1650-1G>A;NM_003199:exon19:c.1638-1G>A;NM_001243235:exon12:c.1158-1G>A;NM_001243233:exon15:c.1248-1G>A;NM_001243231:exon17:c.1512-1G>A;NM_001243228:exon19:c.1668-1G>A;NM_001243227:exon18:c.1578-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1650-1G>A;ENST00000356073:exon19:c.1638-1G>A;ENST00000568673:exon18:c.1578-1G>A;ENST00000543082:exon17:c.1512-1G>A;ENST00000457482:exon12:c.1170-1G>A;ENST00000540999:exon18:c.1566-1G>A;ENST00000537578:exon18:c.1578-1G>A;ENST00000564999:exon19:c.1638-1G>A;ENST00000568740:exon18:c.1563-1G>A;ENST00000537856:exon14:c.1248-1G>A;ENST00000544241:exon15:c.1437-1G>A;ENST00000561992:exon15:c.1248-1G>A;ENST00000561831:exon12:c.1158-1G>A;ENST00000565018:exon19:c.1650-1G>A;ENST00000566279:exon17:c.1470-1G>A;ENST00000566286:exon18:c.1629-1G>A;ENST00000567880:exon16:c.1458-1G>A;ENST00000564228:exon15:c.1425-1G>A;ENST00000570287:exon12:c.1158-1G>A;ENST00000398339:exon20:c.1956-1G>A;ENST00000564403:exon19:c.1668-1G>A;ENST00000570177:exon14:c.1248-1G>A)	.	.	0.999989072007339	0.934
18	52896309	T	A	18	55229078	y	y	splicing	TCF4(NM_001243226:exon20:c.1956-2A>T;NM_001243230:exon18:c.1629-2A>T;NM_001243234:exon12:c.1170-2A>T;NM_001243232:exon15:c.1437-2A>T;NM_001243236:exon12:c.1158-2A>T;NM_001083962:exon19:c.1650-2A>T;NM_003199:exon19:c.1638-2A>T;NM_001243235:exon12:c.1158-2A>T;NM_001243233:exon15:c.1248-2A>T;NM_001243231:exon17:c.1512-2A>T;NM_001243228:exon19:c.1668-2A>T;NM_001243227:exon18:c.1578-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1650-2A>T;ENST00000356073:exon19:c.1638-2A>T;ENST00000568673:exon18:c.1578-2A>T;ENST00000543082:exon17:c.1512-2A>T;ENST00000457482:exon12:c.1170-2A>T;ENST00000540999:exon18:c.1566-2A>T;ENST00000537578:exon18:c.1578-2A>T;ENST00000564999:exon19:c.1638-2A>T;ENST00000568740:exon18:c.1563-2A>T;ENST00000537856:exon14:c.1248-2A>T;ENST00000544241:exon15:c.1437-2A>T;ENST00000561992:exon15:c.1248-2A>T;ENST00000561831:exon12:c.1158-2A>T;ENST00000565018:exon19:c.1650-2A>T;ENST00000566279:exon17:c.1470-2A>T;ENST00000566286:exon18:c.1629-2A>T;ENST00000567880:exon16:c.1458-2A>T;ENST00000564228:exon15:c.1425-2A>T;ENST00000570287:exon12:c.1158-2A>T;ENST00000398339:exon20:c.1956-2A>T;ENST00000564403:exon19:c.1668-2A>T;ENST00000570177:exon14:c.1248-2A>T)	.	.	0.999988247793601	0.93
18	52896309	T	C	18	55229078	y	y	splicing	TCF4(NM_001243226:exon20:c.1956-2A>G;NM_001243230:exon18:c.1629-2A>G;NM_001243234:exon12:c.1170-2A>G;NM_001243232:exon15:c.1437-2A>G;NM_001243236:exon12:c.1158-2A>G;NM_001083962:exon19:c.1650-2A>G;NM_003199:exon19:c.1638-2A>G;NM_001243235:exon12:c.1158-2A>G;NM_001243233:exon15:c.1248-2A>G;NM_001243231:exon17:c.1512-2A>G;NM_001243228:exon19:c.1668-2A>G;NM_001243227:exon18:c.1578-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1650-2A>G;ENST00000356073:exon19:c.1638-2A>G;ENST00000568673:exon18:c.1578-2A>G;ENST00000543082:exon17:c.1512-2A>G;ENST00000457482:exon12:c.1170-2A>G;ENST00000540999:exon18:c.1566-2A>G;ENST00000537578:exon18:c.1578-2A>G;ENST00000564999:exon19:c.1638-2A>G;ENST00000568740:exon18:c.1563-2A>G;ENST00000537856:exon14:c.1248-2A>G;ENST00000544241:exon15:c.1437-2A>G;ENST00000561992:exon15:c.1248-2A>G;ENST00000561831:exon12:c.1158-2A>G;ENST00000565018:exon19:c.1650-2A>G;ENST00000566279:exon17:c.1470-2A>G;ENST00000566286:exon18:c.1629-2A>G;ENST00000567880:exon16:c.1458-2A>G;ENST00000564228:exon15:c.1425-2A>G;ENST00000570287:exon12:c.1158-2A>G;ENST00000398339:exon20:c.1956-2A>G;ENST00000564403:exon19:c.1668-2A>G;ENST00000570177:exon14:c.1248-2A>G)	.	.	0.999988247793601	0.928
18	52896309	T	G	18	55229078	y	y	splicing	TCF4(NM_001243226:exon20:c.1956-2A>C;NM_001243230:exon18:c.1629-2A>C;NM_001243234:exon12:c.1170-2A>C;NM_001243232:exon15:c.1437-2A>C;NM_001243236:exon12:c.1158-2A>C;NM_001083962:exon19:c.1650-2A>C;NM_003199:exon19:c.1638-2A>C;NM_001243235:exon12:c.1158-2A>C;NM_001243233:exon15:c.1248-2A>C;NM_001243231:exon17:c.1512-2A>C;NM_001243228:exon19:c.1668-2A>C;NM_001243227:exon18:c.1578-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon19:c.1650-2A>C;ENST00000356073:exon19:c.1638-2A>C;ENST00000568673:exon18:c.1578-2A>C;ENST00000543082:exon17:c.1512-2A>C;ENST00000457482:exon12:c.1170-2A>C;ENST00000540999:exon18:c.1566-2A>C;ENST00000537578:exon18:c.1578-2A>C;ENST00000564999:exon19:c.1638-2A>C;ENST00000568740:exon18:c.1563-2A>C;ENST00000537856:exon14:c.1248-2A>C;ENST00000544241:exon15:c.1437-2A>C;ENST00000561992:exon15:c.1248-2A>C;ENST00000561831:exon12:c.1158-2A>C;ENST00000565018:exon19:c.1650-2A>C;ENST00000566279:exon17:c.1470-2A>C;ENST00000566286:exon18:c.1629-2A>C;ENST00000567880:exon16:c.1458-2A>C;ENST00000564228:exon15:c.1425-2A>C;ENST00000570287:exon12:c.1158-2A>C;ENST00000398339:exon20:c.1956-2A>C;ENST00000564403:exon19:c.1668-2A>C;ENST00000570177:exon14:c.1248-2A>C)	.	.	0.999988247793601	0.928
18	52896310	G	A	18	55229079	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0144919681955238	0.13
18	52896310	G	C	18	55229079	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999392523454908	0.934
18	52896310	G	T	18	55229079	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996128026129928	0.812
18	52896311	T	A	18	55229080	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00117197036625618	0.022
18	52896311	T	C	18	55229080	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.1120923139142E-5	0.0
18	52896311	T	G	18	55229080	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.39904663111225E-4	0.038
18	52896312	G	A	18	55229081	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.17827776040345E-5	0.002
18	52896312	G	C	18	55229081	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00803162212861973	0.116
18	52896312	G	T	18	55229081	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00232047190030408	0.066
18	52896313	G	A	18	55229082	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.04891514817848E-5	0.006
18	52896313	G	C	18	55229082	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0358068994693425	0.228
18	52896313	G	T	18	55229082	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0455746352582343	0.272
18	52896314	G	A	18	55229083	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.3139028748562E-4	0.002
18	52896314	G	C	18	55229083	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00365003735251773	0.134
18	52896314	G	T	18	55229083	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0549641645896107	0.176
18	52896315	A	C	18	55229084	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00126438038828276	0.076
18	52896315	A	G	18	55229084	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.98500662541177E-6	0.01
18	52896315	A	T	18	55229084	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00178156458123576	0.062
18	52896316	C	A	18	55229085	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.3917200279289E-5	0.008
18	52896316	C	G	18	55229085	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.13552079178442E-5	0.014
18	52896316	C	T	18	55229085	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.32028772255968E-4	0.036
18	52896317	A	C	18	55229086	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00136465443098651	0.196
18	52896317	A	G	18	55229086	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.07653382210758E-4	0.05
18	52896317	A	T	18	55229086	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999264421722524	0.916
18	52896318	A	C	18	55229087	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00670336425120563	0.128
18	52896318	A	G	18	55229087	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.12443392951846E-4	0.04
18	52896318	A	T	18	55229087	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.010240820533969	0.208
18	52896319	A	C	18	55229088	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00826591632909018	0.12
18	52896319	A	G	18	55229088	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.15565913866377E-4	0.0
18	52896319	A	T	18	55229088	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00317005658091488	0.06
18	52899732	A	C	18	55232501	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0132025184567823	0.054
18	52899732	A	G	18	55232501	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00934966337887902	0.044
18	52899732	A	T	18	55232501	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0301691087231307	0.106
18	52899733	C	A	18	55232502	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.164404950749337	0.164
18	52899733	C	G	18	55232502	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00832024160585112	0.066
18	52899733	C	T	18	55232502	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0275892128517575	0.074
18	52899734	T	A	18	55232503	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00242134892852268	0.084
18	52899734	T	C	18	55232503	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0158944397832345	0.084
18	52899734	T	G	18	55232503	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0944500835697248	0.196
18	52899735	G	A	18	55232504	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.312042374633267	0.26
18	52899735	G	C	18	55232504	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00380318113937426	0.062
18	52899735	G	T	18	55232504	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0183274560621816	0.162
18	52899736	T	A	18	55232505	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99822887731669	0.888
18	52899736	T	C	18	55232505	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.997195747484315	0.9
18	52899736	T	G	18	55232505	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.985528438309154	0.746
18	52899737	T	A	18	55232506	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999877172147238	0.966
18	52899737	T	C	18	55232506	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999488207197835	0.964
18	52899737	T	G	18	55232506	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999860752819617	0.976
18	52899738	A	C	18	55232507	y	y	splicing	TCF4(NM_001243226:exon19:c.1955+2T>G;NM_001243234:exon11:c.1169+2T>G;NM_001243232:exon14:c.1436+2T>G;NM_001083962:exon18:c.1649+2T>G;NM_001243228:exon18:c.1667+2T>G;NM_001243227:exon17:c.1577+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1649+2T>G;ENST00000568673:exon17:c.1577+2T>G;ENST00000457482:exon11:c.1169+2T>G;ENST00000537578:exon17:c.1577+2T>G;ENST00000544241:exon14:c.1436+2T>G;ENST00000565018:exon18:c.1649+2T>G;ENST00000566279:exon16:c.1469+2T>G;ENST00000398339:exon19:c.1955+2T>G;ENST00000564403:exon18:c.1667+2T>G)	.	.	0.999992446697775	0.948
18	52899738	A	G	18	55232507	y	y	splicing	TCF4(NM_001243226:exon19:c.1955+2T>C;NM_001243234:exon11:c.1169+2T>C;NM_001243232:exon14:c.1436+2T>C;NM_001083962:exon18:c.1649+2T>C;NM_001243228:exon18:c.1667+2T>C;NM_001243227:exon17:c.1577+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1649+2T>C;ENST00000568673:exon17:c.1577+2T>C;ENST00000457482:exon11:c.1169+2T>C;ENST00000537578:exon17:c.1577+2T>C;ENST00000544241:exon14:c.1436+2T>C;ENST00000565018:exon18:c.1649+2T>C;ENST00000566279:exon16:c.1469+2T>C;ENST00000398339:exon19:c.1955+2T>C;ENST00000564403:exon18:c.1667+2T>C)	.	.	0.996192767656757	0.714
18	52899738	A	T	18	55232507	y	y	splicing	TCF4(NM_001243226:exon19:c.1955+2T>A;NM_001243234:exon11:c.1169+2T>A;NM_001243232:exon14:c.1436+2T>A;NM_001083962:exon18:c.1649+2T>A;NM_001243228:exon18:c.1667+2T>A;NM_001243227:exon17:c.1577+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1649+2T>A;ENST00000568673:exon17:c.1577+2T>A;ENST00000457482:exon11:c.1169+2T>A;ENST00000537578:exon17:c.1577+2T>A;ENST00000544241:exon14:c.1436+2T>A;ENST00000565018:exon18:c.1649+2T>A;ENST00000566279:exon16:c.1469+2T>A;ENST00000398339:exon19:c.1955+2T>A;ENST00000564403:exon18:c.1667+2T>A)	.	.	0.999992446697775	0.948
18	52899739	C	A	18	55232508	y	y	splicing	TCF4(NM_001243226:exon19:c.1955+1G>T;NM_001243234:exon11:c.1169+1G>T;NM_001243232:exon14:c.1436+1G>T;NM_001083962:exon18:c.1649+1G>T;NM_001243228:exon18:c.1667+1G>T;NM_001243227:exon17:c.1577+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1649+1G>T;ENST00000568673:exon17:c.1577+1G>T;ENST00000457482:exon11:c.1169+1G>T;ENST00000537578:exon17:c.1577+1G>T;ENST00000544241:exon14:c.1436+1G>T;ENST00000565018:exon18:c.1649+1G>T;ENST00000566279:exon16:c.1469+1G>T;ENST00000398339:exon19:c.1955+1G>T;ENST00000564403:exon18:c.1667+1G>T)	.	.	0.999990361384395	0.942
18	52899739	C	G	18	55232508	y	y	splicing	TCF4(NM_001243226:exon19:c.1955+1G>C;NM_001243234:exon11:c.1169+1G>C;NM_001243232:exon14:c.1436+1G>C;NM_001083962:exon18:c.1649+1G>C;NM_001243228:exon18:c.1667+1G>C;NM_001243227:exon17:c.1577+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1649+1G>C;ENST00000568673:exon17:c.1577+1G>C;ENST00000457482:exon11:c.1169+1G>C;ENST00000537578:exon17:c.1577+1G>C;ENST00000544241:exon14:c.1436+1G>C;ENST00000565018:exon18:c.1649+1G>C;ENST00000566279:exon16:c.1469+1G>C;ENST00000398339:exon19:c.1955+1G>C;ENST00000564403:exon18:c.1667+1G>C)	.	.	0.999990361384395	0.942
18	52899739	C	T	18	55232508	y	y	splicing	TCF4(NM_001243226:exon19:c.1955+1G>A;NM_001243234:exon11:c.1169+1G>A;NM_001243232:exon14:c.1436+1G>A;NM_001083962:exon18:c.1649+1G>A;NM_001243228:exon18:c.1667+1G>A;NM_001243227:exon17:c.1577+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1649+1G>A;ENST00000568673:exon17:c.1577+1G>A;ENST00000457482:exon11:c.1169+1G>A;ENST00000537578:exon17:c.1577+1G>A;ENST00000544241:exon14:c.1436+1G>A;ENST00000565018:exon18:c.1649+1G>A;ENST00000566279:exon16:c.1469+1G>A;ENST00000398339:exon19:c.1955+1G>A;ENST00000564403:exon18:c.1667+1G>A)	.	.	0.999990361384395	0.942
18	52899740	C	A	18	55232509	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon13:c.G1436T:p.S479I;TCF4:NM_001083962:exon17:c.G1649T:p.S550I;TCF4:NM_001243227:exon16:c.G1577T:p.S526I;TCF4:NM_001243234:exon10:c.G1169T:p.S390I;TCF4:NM_001243226:exon18:c.G1955T:p.S652I;TCF4:NM_001243228:exon17:c.G1667T:p.S556I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.G1469T:p.S490I;ENSG00000196628:ENST00000565018:exon17:c.G1649T:p.S550I;ENSG00000196628:ENST00000354452:exon17:c.G1649T:p.S550I;ENSG00000196628:ENST00000544241:exon13:c.G1436T:p.S479I;ENSG00000196628:ENST00000537578:exon16:c.G1577T:p.S526I;ENSG00000196628:ENST00000564403:exon17:c.G1667T:p.S556I;ENSG00000196628:ENST00000457482:exon10:c.G1169T:p.S390I;ENSG00000196628:ENST00000568673:exon16:c.G1577T:p.S526I;ENSG00000196628:ENST00000398339:exon18:c.G1955T:p.S652I;	0.999993018555097	1.0
18	52899740	C	G	18	55232509	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon13:c.G1436C:p.S479T;TCF4:NM_001083962:exon17:c.G1649C:p.S550T;TCF4:NM_001243227:exon16:c.G1577C:p.S526T;TCF4:NM_001243234:exon10:c.G1169C:p.S390T;TCF4:NM_001243226:exon18:c.G1955C:p.S652T;TCF4:NM_001243228:exon17:c.G1667C:p.S556T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.G1469C:p.S490T;ENSG00000196628:ENST00000565018:exon17:c.G1649C:p.S550T;ENSG00000196628:ENST00000354452:exon17:c.G1649C:p.S550T;ENSG00000196628:ENST00000544241:exon13:c.G1436C:p.S479T;ENSG00000196628:ENST00000537578:exon16:c.G1577C:p.S526T;ENSG00000196628:ENST00000564403:exon17:c.G1667C:p.S556T;ENSG00000196628:ENST00000457482:exon10:c.G1169C:p.S390T;ENSG00000196628:ENST00000568673:exon16:c.G1577C:p.S526T;ENSG00000196628:ENST00000398339:exon18:c.G1955C:p.S652T;	0.999997643939171	1.0
18	52899740	C	T	18	55232509	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon13:c.G1436A:p.S479N;TCF4:NM_001083962:exon17:c.G1649A:p.S550N;TCF4:NM_001243227:exon16:c.G1577A:p.S526N;TCF4:NM_001243234:exon10:c.G1169A:p.S390N;TCF4:NM_001243226:exon18:c.G1955A:p.S652N;TCF4:NM_001243228:exon17:c.G1667A:p.S556N;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.G1469A:p.S490N;ENSG00000196628:ENST00000565018:exon17:c.G1649A:p.S550N;ENSG00000196628:ENST00000354452:exon17:c.G1649A:p.S550N;ENSG00000196628:ENST00000544241:exon13:c.G1436A:p.S479N;ENSG00000196628:ENST00000537578:exon16:c.G1577A:p.S526N;ENSG00000196628:ENST00000564403:exon17:c.G1667A:p.S556N;ENSG00000196628:ENST00000457482:exon10:c.G1169A:p.S390N;ENSG00000196628:ENST00000568673:exon16:c.G1577A:p.S526N;ENSG00000196628:ENST00000398339:exon18:c.G1955A:p.S652N;	0.999995395712861	0.996
18	52899741	T	A	18	55232510	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon13:c.A1435T:p.S479C;TCF4:NM_001083962:exon17:c.A1648T:p.S550C;TCF4:NM_001243227:exon16:c.A1576T:p.S526C;TCF4:NM_001243234:exon10:c.A1168T:p.S390C;TCF4:NM_001243226:exon18:c.A1954T:p.S652C;TCF4:NM_001243228:exon17:c.A1666T:p.S556C;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.A1468T:p.S490C;ENSG00000196628:ENST00000565018:exon17:c.A1648T:p.S550C;ENSG00000196628:ENST00000354452:exon17:c.A1648T:p.S550C;ENSG00000196628:ENST00000544241:exon13:c.A1435T:p.S479C;ENSG00000196628:ENST00000537578:exon16:c.A1576T:p.S526C;ENSG00000196628:ENST00000564403:exon17:c.A1666T:p.S556C;ENSG00000196628:ENST00000457482:exon10:c.A1168T:p.S390C;ENSG00000196628:ENST00000568673:exon16:c.A1576T:p.S526C;ENSG00000196628:ENST00000398339:exon18:c.A1954T:p.S652C;	0.999883587739351	0.994
18	52899741	T	C	18	55232510	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon13:c.A1435G:p.S479G;TCF4:NM_001083962:exon17:c.A1648G:p.S550G;TCF4:NM_001243227:exon16:c.A1576G:p.S526G;TCF4:NM_001243234:exon10:c.A1168G:p.S390G;TCF4:NM_001243226:exon18:c.A1954G:p.S652G;TCF4:NM_001243228:exon17:c.A1666G:p.S556G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.A1468G:p.S490G;ENSG00000196628:ENST00000565018:exon17:c.A1648G:p.S550G;ENSG00000196628:ENST00000354452:exon17:c.A1648G:p.S550G;ENSG00000196628:ENST00000544241:exon13:c.A1435G:p.S479G;ENSG00000196628:ENST00000537578:exon16:c.A1576G:p.S526G;ENSG00000196628:ENST00000564403:exon17:c.A1666G:p.S556G;ENSG00000196628:ENST00000457482:exon10:c.A1168G:p.S390G;ENSG00000196628:ENST00000568673:exon16:c.A1576G:p.S526G;ENSG00000196628:ENST00000398339:exon18:c.A1954G:p.S652G;	0.999894363453153	0.994
18	52899741	T	G	18	55232510	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon13:c.A1435C:p.S479R;TCF4:NM_001083962:exon17:c.A1648C:p.S550R;TCF4:NM_001243227:exon16:c.A1576C:p.S526R;TCF4:NM_001243234:exon10:c.A1168C:p.S390R;TCF4:NM_001243226:exon18:c.A1954C:p.S652R;TCF4:NM_001243228:exon17:c.A1666C:p.S556R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.A1468C:p.S490R;ENSG00000196628:ENST00000565018:exon17:c.A1648C:p.S550R;ENSG00000196628:ENST00000354452:exon17:c.A1648C:p.S550R;ENSG00000196628:ENST00000544241:exon13:c.A1435C:p.S479R;ENSG00000196628:ENST00000537578:exon16:c.A1576C:p.S526R;ENSG00000196628:ENST00000564403:exon17:c.A1666C:p.S556R;ENSG00000196628:ENST00000457482:exon10:c.A1168C:p.S390R;ENSG00000196628:ENST00000568673:exon16:c.A1576C:p.S526R;ENSG00000196628:ENST00000398339:exon18:c.A1954C:p.S652R;	0.999787916160189	0.982
18	52899742	A	C	18	55232511	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243232:exon13:c.T1434G:p.S478S;TCF4:NM_001083962:exon17:c.T1647G:p.S549S;TCF4:NM_001243227:exon16:c.T1575G:p.S525S;TCF4:NM_001243234:exon10:c.T1167G:p.S389S;TCF4:NM_001243226:exon18:c.T1953G:p.S651S;TCF4:NM_001243228:exon17:c.T1665G:p.S555S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.T1467G:p.S489S;ENSG00000196628:ENST00000565018:exon17:c.T1647G:p.S549S;ENSG00000196628:ENST00000354452:exon17:c.T1647G:p.S549S;ENSG00000196628:ENST00000544241:exon13:c.T1434G:p.S478S;ENSG00000196628:ENST00000537578:exon16:c.T1575G:p.S525S;ENSG00000196628:ENST00000564403:exon17:c.T1665G:p.S555S;ENSG00000196628:ENST00000457482:exon10:c.T1167G:p.S389S;ENSG00000196628:ENST00000568673:exon16:c.T1575G:p.S525S;ENSG00000196628:ENST00000398339:exon18:c.T1953G:p.S651S;	0.00745358103923054	0.05
18	52899742	A	G	18	55232511	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243232:exon13:c.T1434C:p.S478S;TCF4:NM_001083962:exon17:c.T1647C:p.S549S;TCF4:NM_001243227:exon16:c.T1575C:p.S525S;TCF4:NM_001243234:exon10:c.T1167C:p.S389S;TCF4:NM_001243226:exon18:c.T1953C:p.S651S;TCF4:NM_001243228:exon17:c.T1665C:p.S555S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.T1467C:p.S489S;ENSG00000196628:ENST00000565018:exon17:c.T1647C:p.S549S;ENSG00000196628:ENST00000354452:exon17:c.T1647C:p.S549S;ENSG00000196628:ENST00000544241:exon13:c.T1434C:p.S478S;ENSG00000196628:ENST00000537578:exon16:c.T1575C:p.S525S;ENSG00000196628:ENST00000564403:exon17:c.T1665C:p.S555S;ENSG00000196628:ENST00000457482:exon10:c.T1167C:p.S389S;ENSG00000196628:ENST00000568673:exon16:c.T1575C:p.S525S;ENSG00000196628:ENST00000398339:exon18:c.T1953C:p.S651S;	0.00310337621232897	0.042
18	52899742	A	T	18	55232511	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243232:exon13:c.T1434A:p.S478S;TCF4:NM_001083962:exon17:c.T1647A:p.S549S;TCF4:NM_001243227:exon16:c.T1575A:p.S525S;TCF4:NM_001243234:exon10:c.T1167A:p.S389S;TCF4:NM_001243226:exon18:c.T1953A:p.S651S;TCF4:NM_001243228:exon17:c.T1665A:p.S555S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.T1467A:p.S489S;ENSG00000196628:ENST00000565018:exon17:c.T1647A:p.S549S;ENSG00000196628:ENST00000354452:exon17:c.T1647A:p.S549S;ENSG00000196628:ENST00000544241:exon13:c.T1434A:p.S478S;ENSG00000196628:ENST00000537578:exon16:c.T1575A:p.S525S;ENSG00000196628:ENST00000564403:exon17:c.T1665A:p.S555S;ENSG00000196628:ENST00000457482:exon10:c.T1167A:p.S389S;ENSG00000196628:ENST00000568673:exon16:c.T1575A:p.S525S;ENSG00000196628:ENST00000398339:exon18:c.T1953A:p.S651S;	0.00723255084667816	0.072
18	52899901	G	A	18	55232670	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon10:c.C1008T:p.G336G;TCF4:NM_001243235:exon10:c.C1008T:p.G336G;TCF4:NM_001243231:exon15:c.C1362T:p.G454G;TCF4:NM_003199:exon17:c.C1488T:p.G496G;TCF4:NM_001243230:exon16:c.C1479T:p.G493G;TCF4:NM_001243232:exon13:c.C1275T:p.G425G;TCF4:NM_001083962:exon17:c.C1488T:p.G496G;TCF4:NM_001243227:exon16:c.C1416T:p.G472G;TCF4:NM_001243234:exon10:c.C1008T:p.G336G;TCF4:NM_001243226:exon18:c.C1794T:p.G598G;TCF4:NM_001243228:exon17:c.C1506T:p.G502G;TCF4:NM_001243233:exon13:c.C1098T:p.G366G;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.C1308T:p.G436G;ENSG00000196628:ENST00000561831:exon10:c.C1008T:p.G336G;ENSG00000196628:ENST00000564999:exon17:c.C1488T:p.G496G;ENSG00000196628:ENST00000568740:exon16:c.C1413T:p.G471G;ENSG00000196628:ENST00000561992:exon13:c.C1098T:p.G366G;ENSG00000196628:ENST00000565018:exon17:c.C1488T:p.G496G;ENSG00000196628:ENST00000354452:exon17:c.C1488T:p.G496G;ENSG00000196628:ENST00000566286:exon16:c.C1479T:p.G493G;ENSG00000196628:ENST00000356073:exon17:c.C1488T:p.G496G;ENSG00000196628:ENST00000543082:exon15:c.C1362T:p.G454G;ENSG00000196628:ENST00000570287:exon10:c.C1008T:p.G336G;ENSG00000196628:ENST00000544241:exon13:c.C1275T:p.G425G;ENSG00000196628:ENST00000537578:exon16:c.C1416T:p.G472G;ENSG00000196628:ENST00000564403:exon17:c.C1506T:p.G502G;ENSG00000196628:ENST00000570177:exon12:c.C1098T:p.G366G;ENSG00000196628:ENST00000457482:exon10:c.C1008T:p.G336G;ENSG00000196628:ENST00000568673:exon16:c.C1416T:p.G472G;ENSG00000196628:ENST00000540999:exon16:c.C1416T:p.G472G;ENSG00000196628:ENST00000537856:exon12:c.C1098T:p.G366G;ENSG00000196628:ENST00000398339:exon18:c.C1794T:p.G598G;ENSG00000196628:ENST00000564228:exon13:c.C1275T:p.G425G;ENSG00000196628:ENST00000567880:exon14:c.C1308T:p.G436G;	4.80593038312798E-4	0.002
18	52899901	G	C	18	55232670	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon10:c.C1008G:p.G336G;TCF4:NM_001243235:exon10:c.C1008G:p.G336G;TCF4:NM_001243231:exon15:c.C1362G:p.G454G;TCF4:NM_003199:exon17:c.C1488G:p.G496G;TCF4:NM_001243230:exon16:c.C1479G:p.G493G;TCF4:NM_001243232:exon13:c.C1275G:p.G425G;TCF4:NM_001083962:exon17:c.C1488G:p.G496G;TCF4:NM_001243227:exon16:c.C1416G:p.G472G;TCF4:NM_001243234:exon10:c.C1008G:p.G336G;TCF4:NM_001243226:exon18:c.C1794G:p.G598G;TCF4:NM_001243228:exon17:c.C1506G:p.G502G;TCF4:NM_001243233:exon13:c.C1098G:p.G366G;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.C1308G:p.G436G;ENSG00000196628:ENST00000561831:exon10:c.C1008G:p.G336G;ENSG00000196628:ENST00000564999:exon17:c.C1488G:p.G496G;ENSG00000196628:ENST00000568740:exon16:c.C1413G:p.G471G;ENSG00000196628:ENST00000561992:exon13:c.C1098G:p.G366G;ENSG00000196628:ENST00000565018:exon17:c.C1488G:p.G496G;ENSG00000196628:ENST00000354452:exon17:c.C1488G:p.G496G;ENSG00000196628:ENST00000566286:exon16:c.C1479G:p.G493G;ENSG00000196628:ENST00000356073:exon17:c.C1488G:p.G496G;ENSG00000196628:ENST00000543082:exon15:c.C1362G:p.G454G;ENSG00000196628:ENST00000570287:exon10:c.C1008G:p.G336G;ENSG00000196628:ENST00000544241:exon13:c.C1275G:p.G425G;ENSG00000196628:ENST00000537578:exon16:c.C1416G:p.G472G;ENSG00000196628:ENST00000564403:exon17:c.C1506G:p.G502G;ENSG00000196628:ENST00000570177:exon12:c.C1098G:p.G366G;ENSG00000196628:ENST00000457482:exon10:c.C1008G:p.G336G;ENSG00000196628:ENST00000568673:exon16:c.C1416G:p.G472G;ENSG00000196628:ENST00000540999:exon16:c.C1416G:p.G472G;ENSG00000196628:ENST00000537856:exon12:c.C1098G:p.G366G;ENSG00000196628:ENST00000398339:exon18:c.C1794G:p.G598G;ENSG00000196628:ENST00000564228:exon13:c.C1275G:p.G425G;ENSG00000196628:ENST00000567880:exon14:c.C1308G:p.G436G;	7.2237754935073E-4	0.022
18	52899901	G	T	18	55232670	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon10:c.C1008A:p.G336G;TCF4:NM_001243235:exon10:c.C1008A:p.G336G;TCF4:NM_001243231:exon15:c.C1362A:p.G454G;TCF4:NM_003199:exon17:c.C1488A:p.G496G;TCF4:NM_001243230:exon16:c.C1479A:p.G493G;TCF4:NM_001243232:exon13:c.C1275A:p.G425G;TCF4:NM_001083962:exon17:c.C1488A:p.G496G;TCF4:NM_001243227:exon16:c.C1416A:p.G472G;TCF4:NM_001243234:exon10:c.C1008A:p.G336G;TCF4:NM_001243226:exon18:c.C1794A:p.G598G;TCF4:NM_001243228:exon17:c.C1506A:p.G502G;TCF4:NM_001243233:exon13:c.C1098A:p.G366G;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.C1308A:p.G436G;ENSG00000196628:ENST00000561831:exon10:c.C1008A:p.G336G;ENSG00000196628:ENST00000564999:exon17:c.C1488A:p.G496G;ENSG00000196628:ENST00000568740:exon16:c.C1413A:p.G471G;ENSG00000196628:ENST00000561992:exon13:c.C1098A:p.G366G;ENSG00000196628:ENST00000565018:exon17:c.C1488A:p.G496G;ENSG00000196628:ENST00000354452:exon17:c.C1488A:p.G496G;ENSG00000196628:ENST00000566286:exon16:c.C1479A:p.G493G;ENSG00000196628:ENST00000356073:exon17:c.C1488A:p.G496G;ENSG00000196628:ENST00000543082:exon15:c.C1362A:p.G454G;ENSG00000196628:ENST00000570287:exon10:c.C1008A:p.G336G;ENSG00000196628:ENST00000544241:exon13:c.C1275A:p.G425G;ENSG00000196628:ENST00000537578:exon16:c.C1416A:p.G472G;ENSG00000196628:ENST00000564403:exon17:c.C1506A:p.G502G;ENSG00000196628:ENST00000570177:exon12:c.C1098A:p.G366G;ENSG00000196628:ENST00000457482:exon10:c.C1008A:p.G336G;ENSG00000196628:ENST00000568673:exon16:c.C1416A:p.G472G;ENSG00000196628:ENST00000540999:exon16:c.C1416A:p.G472G;ENSG00000196628:ENST00000537856:exon12:c.C1098A:p.G366G;ENSG00000196628:ENST00000398339:exon18:c.C1794A:p.G598G;ENSG00000196628:ENST00000564228:exon13:c.C1275A:p.G425G;ENSG00000196628:ENST00000567880:exon14:c.C1308A:p.G436G;	5.5887826841336E-4	0.022
18	52899902	C	A	18	55232671	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon10:c.G1007T:p.G336V;TCF4:NM_001243235:exon10:c.G1007T:p.G336V;TCF4:NM_001243231:exon15:c.G1361T:p.G454V;TCF4:NM_003199:exon17:c.G1487T:p.G496V;TCF4:NM_001243230:exon16:c.G1478T:p.G493V;TCF4:NM_001243232:exon13:c.G1274T:p.G425V;TCF4:NM_001083962:exon17:c.G1487T:p.G496V;TCF4:NM_001243227:exon16:c.G1415T:p.G472V;TCF4:NM_001243234:exon10:c.G1007T:p.G336V;TCF4:NM_001243226:exon18:c.G1793T:p.G598V;TCF4:NM_001243228:exon17:c.G1505T:p.G502V;TCF4:NM_001243233:exon13:c.G1097T:p.G366V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.G1307T:p.G436V;ENSG00000196628:ENST00000561831:exon10:c.G1007T:p.G336V;ENSG00000196628:ENST00000564999:exon17:c.G1487T:p.G496V;ENSG00000196628:ENST00000568740:exon16:c.G1412T:p.G471V;ENSG00000196628:ENST00000561992:exon13:c.G1097T:p.G366V;ENSG00000196628:ENST00000565018:exon17:c.G1487T:p.G496V;ENSG00000196628:ENST00000354452:exon17:c.G1487T:p.G496V;ENSG00000196628:ENST00000566286:exon16:c.G1478T:p.G493V;ENSG00000196628:ENST00000356073:exon17:c.G1487T:p.G496V;ENSG00000196628:ENST00000543082:exon15:c.G1361T:p.G454V;ENSG00000196628:ENST00000570287:exon10:c.G1007T:p.G336V;ENSG00000196628:ENST00000544241:exon13:c.G1274T:p.G425V;ENSG00000196628:ENST00000537578:exon16:c.G1415T:p.G472V;ENSG00000196628:ENST00000564403:exon17:c.G1505T:p.G502V;ENSG00000196628:ENST00000570177:exon12:c.G1097T:p.G366V;ENSG00000196628:ENST00000457482:exon10:c.G1007T:p.G336V;ENSG00000196628:ENST00000568673:exon16:c.G1415T:p.G472V;ENSG00000196628:ENST00000540999:exon16:c.G1415T:p.G472V;ENSG00000196628:ENST00000537856:exon12:c.G1097T:p.G366V;ENSG00000196628:ENST00000398339:exon18:c.G1793T:p.G598V;ENSG00000196628:ENST00000564228:exon13:c.G1274T:p.G425V;ENSG00000196628:ENST00000567880:exon14:c.G1307T:p.G436V;	0.999235189364711	0.946
18	52899902	C	G	18	55232671	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon10:c.G1007C:p.G336A;TCF4:NM_001243235:exon10:c.G1007C:p.G336A;TCF4:NM_001243231:exon15:c.G1361C:p.G454A;TCF4:NM_003199:exon17:c.G1487C:p.G496A;TCF4:NM_001243230:exon16:c.G1478C:p.G493A;TCF4:NM_001243232:exon13:c.G1274C:p.G425A;TCF4:NM_001083962:exon17:c.G1487C:p.G496A;TCF4:NM_001243227:exon16:c.G1415C:p.G472A;TCF4:NM_001243234:exon10:c.G1007C:p.G336A;TCF4:NM_001243226:exon18:c.G1793C:p.G598A;TCF4:NM_001243228:exon17:c.G1505C:p.G502A;TCF4:NM_001243233:exon13:c.G1097C:p.G366A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.G1307C:p.G436A;ENSG00000196628:ENST00000561831:exon10:c.G1007C:p.G336A;ENSG00000196628:ENST00000564999:exon17:c.G1487C:p.G496A;ENSG00000196628:ENST00000568740:exon16:c.G1412C:p.G471A;ENSG00000196628:ENST00000561992:exon13:c.G1097C:p.G366A;ENSG00000196628:ENST00000565018:exon17:c.G1487C:p.G496A;ENSG00000196628:ENST00000354452:exon17:c.G1487C:p.G496A;ENSG00000196628:ENST00000566286:exon16:c.G1478C:p.G493A;ENSG00000196628:ENST00000356073:exon17:c.G1487C:p.G496A;ENSG00000196628:ENST00000543082:exon15:c.G1361C:p.G454A;ENSG00000196628:ENST00000570287:exon10:c.G1007C:p.G336A;ENSG00000196628:ENST00000544241:exon13:c.G1274C:p.G425A;ENSG00000196628:ENST00000537578:exon16:c.G1415C:p.G472A;ENSG00000196628:ENST00000564403:exon17:c.G1505C:p.G502A;ENSG00000196628:ENST00000570177:exon12:c.G1097C:p.G366A;ENSG00000196628:ENST00000457482:exon10:c.G1007C:p.G336A;ENSG00000196628:ENST00000568673:exon16:c.G1415C:p.G472A;ENSG00000196628:ENST00000540999:exon16:c.G1415C:p.G472A;ENSG00000196628:ENST00000537856:exon12:c.G1097C:p.G366A;ENSG00000196628:ENST00000398339:exon18:c.G1793C:p.G598A;ENSG00000196628:ENST00000564228:exon13:c.G1274C:p.G425A;ENSG00000196628:ENST00000567880:exon14:c.G1307C:p.G436A;	0.971772540556894	0.744
18	52899902	C	T	18	55232671	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon10:c.G1007A:p.G336D;TCF4:NM_001243235:exon10:c.G1007A:p.G336D;TCF4:NM_001243231:exon15:c.G1361A:p.G454D;TCF4:NM_003199:exon17:c.G1487A:p.G496D;TCF4:NM_001243230:exon16:c.G1478A:p.G493D;TCF4:NM_001243232:exon13:c.G1274A:p.G425D;TCF4:NM_001083962:exon17:c.G1487A:p.G496D;TCF4:NM_001243227:exon16:c.G1415A:p.G472D;TCF4:NM_001243234:exon10:c.G1007A:p.G336D;TCF4:NM_001243226:exon18:c.G1793A:p.G598D;TCF4:NM_001243228:exon17:c.G1505A:p.G502D;TCF4:NM_001243233:exon13:c.G1097A:p.G366D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon15:c.G1307A:p.G436D;ENSG00000196628:ENST00000561831:exon10:c.G1007A:p.G336D;ENSG00000196628:ENST00000564999:exon17:c.G1487A:p.G496D;ENSG00000196628:ENST00000568740:exon16:c.G1412A:p.G471D;ENSG00000196628:ENST00000561992:exon13:c.G1097A:p.G366D;ENSG00000196628:ENST00000565018:exon17:c.G1487A:p.G496D;ENSG00000196628:ENST00000354452:exon17:c.G1487A:p.G496D;ENSG00000196628:ENST00000566286:exon16:c.G1478A:p.G493D;ENSG00000196628:ENST00000356073:exon17:c.G1487A:p.G496D;ENSG00000196628:ENST00000543082:exon15:c.G1361A:p.G454D;ENSG00000196628:ENST00000570287:exon10:c.G1007A:p.G336D;ENSG00000196628:ENST00000544241:exon13:c.G1274A:p.G425D;ENSG00000196628:ENST00000537578:exon16:c.G1415A:p.G472D;ENSG00000196628:ENST00000564403:exon17:c.G1505A:p.G502D;ENSG00000196628:ENST00000570177:exon12:c.G1097A:p.G366D;ENSG00000196628:ENST00000457482:exon10:c.G1007A:p.G336D;ENSG00000196628:ENST00000568673:exon16:c.G1415A:p.G472D;ENSG00000196628:ENST00000540999:exon16:c.G1415A:p.G472D;ENSG00000196628:ENST00000537856:exon12:c.G1097A:p.G366D;ENSG00000196628:ENST00000398339:exon18:c.G1793A:p.G598D;ENSG00000196628:ENST00000564228:exon13:c.G1274A:p.G425D;ENSG00000196628:ENST00000567880:exon14:c.G1307A:p.G436D;	0.997772870876722	0.834
18	52899903	C	A	18	55232672	y	y	splicing	TCF4(NM_001243226:exon19:c.1793-1G>T;NM_001243230:exon17:c.1478-1G>T;NM_001243234:exon11:c.1007-1G>T;NM_001243232:exon14:c.1274-1G>T;NM_001243236:exon11:c.1007-1G>T;NM_001083962:exon18:c.1487-1G>T;NM_003199:exon18:c.1487-1G>T;NM_001243235:exon11:c.1007-1G>T;NM_001243233:exon14:c.1097-1G>T;NM_001243231:exon16:c.1361-1G>T;NM_001243228:exon18:c.1505-1G>T;NM_001243227:exon17:c.1415-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1487-1G>T;ENST00000356073:exon18:c.1487-1G>T;ENST00000568673:exon17:c.1415-1G>T;ENST00000543082:exon16:c.1361-1G>T;ENST00000457482:exon11:c.1007-1G>T;ENST00000540999:exon17:c.1415-1G>T;ENST00000537578:exon17:c.1415-1G>T;ENST00000564999:exon18:c.1487-1G>T;ENST00000568740:exon17:c.1412-1G>T;ENST00000537856:exon13:c.1097-1G>T;ENST00000544241:exon14:c.1274-1G>T;ENST00000561992:exon14:c.1097-1G>T;ENST00000561831:exon11:c.1007-1G>T;ENST00000565018:exon18:c.1487-1G>T;ENST00000566279:exon16:c.1307-1G>T;ENST00000566286:exon17:c.1478-1G>T;ENST00000567880:exon15:c.1307-1G>T;ENST00000564228:exon14:c.1274-1G>T;ENST00000570287:exon11:c.1007-1G>T;ENST00000398339:exon19:c.1793-1G>T;ENST00000564403:exon18:c.1505-1G>T;ENST00000570177:exon13:c.1097-1G>T)	.	.	0.999986675681007	0.932
18	52899903	C	G	18	55232672	y	y	splicing	TCF4(NM_001243226:exon19:c.1793-1G>C;NM_001243230:exon17:c.1478-1G>C;NM_001243234:exon11:c.1007-1G>C;NM_001243232:exon14:c.1274-1G>C;NM_001243236:exon11:c.1007-1G>C;NM_001083962:exon18:c.1487-1G>C;NM_003199:exon18:c.1487-1G>C;NM_001243235:exon11:c.1007-1G>C;NM_001243233:exon14:c.1097-1G>C;NM_001243231:exon16:c.1361-1G>C;NM_001243228:exon18:c.1505-1G>C;NM_001243227:exon17:c.1415-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1487-1G>C;ENST00000356073:exon18:c.1487-1G>C;ENST00000568673:exon17:c.1415-1G>C;ENST00000543082:exon16:c.1361-1G>C;ENST00000457482:exon11:c.1007-1G>C;ENST00000540999:exon17:c.1415-1G>C;ENST00000537578:exon17:c.1415-1G>C;ENST00000564999:exon18:c.1487-1G>C;ENST00000568740:exon17:c.1412-1G>C;ENST00000537856:exon13:c.1097-1G>C;ENST00000544241:exon14:c.1274-1G>C;ENST00000561992:exon14:c.1097-1G>C;ENST00000561831:exon11:c.1007-1G>C;ENST00000565018:exon18:c.1487-1G>C;ENST00000566279:exon16:c.1307-1G>C;ENST00000566286:exon17:c.1478-1G>C;ENST00000567880:exon15:c.1307-1G>C;ENST00000564228:exon14:c.1274-1G>C;ENST00000570287:exon11:c.1007-1G>C;ENST00000398339:exon19:c.1793-1G>C;ENST00000564403:exon18:c.1505-1G>C;ENST00000570177:exon13:c.1097-1G>C)	.	.	0.999986675681007	0.932
18	52899903	C	T	18	55232672	y	y	splicing	TCF4(NM_001243226:exon19:c.1793-1G>A;NM_001243230:exon17:c.1478-1G>A;NM_001243234:exon11:c.1007-1G>A;NM_001243232:exon14:c.1274-1G>A;NM_001243236:exon11:c.1007-1G>A;NM_001083962:exon18:c.1487-1G>A;NM_003199:exon18:c.1487-1G>A;NM_001243235:exon11:c.1007-1G>A;NM_001243233:exon14:c.1097-1G>A;NM_001243231:exon16:c.1361-1G>A;NM_001243228:exon18:c.1505-1G>A;NM_001243227:exon17:c.1415-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1487-1G>A;ENST00000356073:exon18:c.1487-1G>A;ENST00000568673:exon17:c.1415-1G>A;ENST00000543082:exon16:c.1361-1G>A;ENST00000457482:exon11:c.1007-1G>A;ENST00000540999:exon17:c.1415-1G>A;ENST00000537578:exon17:c.1415-1G>A;ENST00000564999:exon18:c.1487-1G>A;ENST00000568740:exon17:c.1412-1G>A;ENST00000537856:exon13:c.1097-1G>A;ENST00000544241:exon14:c.1274-1G>A;ENST00000561992:exon14:c.1097-1G>A;ENST00000561831:exon11:c.1007-1G>A;ENST00000565018:exon18:c.1487-1G>A;ENST00000566279:exon16:c.1307-1G>A;ENST00000566286:exon17:c.1478-1G>A;ENST00000567880:exon15:c.1307-1G>A;ENST00000564228:exon14:c.1274-1G>A;ENST00000570287:exon11:c.1007-1G>A;ENST00000398339:exon19:c.1793-1G>A;ENST00000564403:exon18:c.1505-1G>A;ENST00000570177:exon13:c.1097-1G>A)	.	.	0.999986675681007	0.932
18	52899904	T	A	18	55232673	y	y	splicing	TCF4(NM_001243226:exon19:c.1793-2A>T;NM_001243230:exon17:c.1478-2A>T;NM_001243234:exon11:c.1007-2A>T;NM_001243232:exon14:c.1274-2A>T;NM_001243236:exon11:c.1007-2A>T;NM_001083962:exon18:c.1487-2A>T;NM_003199:exon18:c.1487-2A>T;NM_001243235:exon11:c.1007-2A>T;NM_001243233:exon14:c.1097-2A>T;NM_001243231:exon16:c.1361-2A>T;NM_001243228:exon18:c.1505-2A>T;NM_001243227:exon17:c.1415-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1487-2A>T;ENST00000356073:exon18:c.1487-2A>T;ENST00000568673:exon17:c.1415-2A>T;ENST00000543082:exon16:c.1361-2A>T;ENST00000457482:exon11:c.1007-2A>T;ENST00000540999:exon17:c.1415-2A>T;ENST00000537578:exon17:c.1415-2A>T;ENST00000564999:exon18:c.1487-2A>T;ENST00000568740:exon17:c.1412-2A>T;ENST00000537856:exon13:c.1097-2A>T;ENST00000544241:exon14:c.1274-2A>T;ENST00000561992:exon14:c.1097-2A>T;ENST00000561831:exon11:c.1007-2A>T;ENST00000565018:exon18:c.1487-2A>T;ENST00000566279:exon16:c.1307-2A>T;ENST00000566286:exon17:c.1478-2A>T;ENST00000567880:exon15:c.1307-2A>T;ENST00000564228:exon14:c.1274-2A>T;ENST00000570287:exon11:c.1007-2A>T;ENST00000398339:exon19:c.1793-2A>T;ENST00000564403:exon18:c.1505-2A>T;ENST00000570177:exon13:c.1097-2A>T)	.	.	0.999988247793601	0.926
18	52899904	T	C	18	55232673	y	y	splicing	TCF4(NM_001243226:exon19:c.1793-2A>G;NM_001243230:exon17:c.1478-2A>G;NM_001243234:exon11:c.1007-2A>G;NM_001243232:exon14:c.1274-2A>G;NM_001243236:exon11:c.1007-2A>G;NM_001083962:exon18:c.1487-2A>G;NM_003199:exon18:c.1487-2A>G;NM_001243235:exon11:c.1007-2A>G;NM_001243233:exon14:c.1097-2A>G;NM_001243231:exon16:c.1361-2A>G;NM_001243228:exon18:c.1505-2A>G;NM_001243227:exon17:c.1415-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1487-2A>G;ENST00000356073:exon18:c.1487-2A>G;ENST00000568673:exon17:c.1415-2A>G;ENST00000543082:exon16:c.1361-2A>G;ENST00000457482:exon11:c.1007-2A>G;ENST00000540999:exon17:c.1415-2A>G;ENST00000537578:exon17:c.1415-2A>G;ENST00000564999:exon18:c.1487-2A>G;ENST00000568740:exon17:c.1412-2A>G;ENST00000537856:exon13:c.1097-2A>G;ENST00000544241:exon14:c.1274-2A>G;ENST00000561992:exon14:c.1097-2A>G;ENST00000561831:exon11:c.1007-2A>G;ENST00000565018:exon18:c.1487-2A>G;ENST00000566279:exon16:c.1307-2A>G;ENST00000566286:exon17:c.1478-2A>G;ENST00000567880:exon15:c.1307-2A>G;ENST00000564228:exon14:c.1274-2A>G;ENST00000570287:exon11:c.1007-2A>G;ENST00000398339:exon19:c.1793-2A>G;ENST00000564403:exon18:c.1505-2A>G;ENST00000570177:exon13:c.1097-2A>G)	.	.	0.999988247793601	0.914
18	52899904	T	G	18	55232673	y	y	splicing	TCF4(NM_001243226:exon19:c.1793-2A>C;NM_001243230:exon17:c.1478-2A>C;NM_001243234:exon11:c.1007-2A>C;NM_001243232:exon14:c.1274-2A>C;NM_001243236:exon11:c.1007-2A>C;NM_001083962:exon18:c.1487-2A>C;NM_003199:exon18:c.1487-2A>C;NM_001243235:exon11:c.1007-2A>C;NM_001243233:exon14:c.1097-2A>C;NM_001243231:exon16:c.1361-2A>C;NM_001243228:exon18:c.1505-2A>C;NM_001243227:exon17:c.1415-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon18:c.1487-2A>C;ENST00000356073:exon18:c.1487-2A>C;ENST00000568673:exon17:c.1415-2A>C;ENST00000543082:exon16:c.1361-2A>C;ENST00000457482:exon11:c.1007-2A>C;ENST00000540999:exon17:c.1415-2A>C;ENST00000537578:exon17:c.1415-2A>C;ENST00000564999:exon18:c.1487-2A>C;ENST00000568740:exon17:c.1412-2A>C;ENST00000537856:exon13:c.1097-2A>C;ENST00000544241:exon14:c.1274-2A>C;ENST00000561992:exon14:c.1097-2A>C;ENST00000561831:exon11:c.1007-2A>C;ENST00000565018:exon18:c.1487-2A>C;ENST00000566279:exon16:c.1307-2A>C;ENST00000566286:exon17:c.1478-2A>C;ENST00000567880:exon15:c.1307-2A>C;ENST00000564228:exon14:c.1274-2A>C;ENST00000570287:exon11:c.1007-2A>C;ENST00000398339:exon19:c.1793-2A>C;ENST00000564403:exon18:c.1505-2A>C;ENST00000570177:exon13:c.1097-2A>C)	.	.	0.999988247793601	0.912
18	52899905	G	A	18	55232674	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.7802570171133E-4	0.034
18	52899905	G	C	18	55232674	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99835497968974	0.648
18	52899905	G	T	18	55232674	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.534044467432016	0.328
18	52899906	C	A	18	55232675	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.47645187238855E-5	0.036
18	52899906	C	G	18	55232675	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.15803324387728E-5	0.012
18	52899906	C	T	18	55232675	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.81846412022036E-6	0.0
18	52899907	C	A	18	55232676	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.43636856793662E-5	0.004
18	52899907	C	G	18	55232676	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.12141213963468E-5	0.086
18	52899907	C	T	18	55232676	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0664638493890427	0.512
18	52899908	G	A	18	55232677	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.37414878116939E-5	0.0
18	52899908	G	C	18	55232677	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.13440207030863E-4	0.012
18	52899908	G	T	18	55232677	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.994094213037232	0.928
18	52899909	A	C	18	55232678	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.97834810992538E-5	0.04
18	52899909	A	G	18	55232678	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.55186984533096E-5	0.004
18	52899909	A	T	18	55232678	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.6591069764772E-4	0.168
18	52899910	A	C	18	55232679	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.77608416661681E-5	0.046
18	52899910	A	G	18	55232679	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.20687625681797E-6	0.004
18	52899910	A	T	18	55232679	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.97556376003742E-5	0.058
18	52899911	A	C	18	55232680	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.64164903121451E-4	0.056
18	52899911	A	G	18	55232680	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.82326656178993E-4	0.01
18	52899911	A	T	18	55232680	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00106227630311912	0.082
18	52899912	A	C	18	55232681	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.64810648529121E-5	0.07
18	52899912	A	G	18	55232681	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.58319866928395E-5	0.002
18	52899912	A	T	18	55232681	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.07750759381806E-4	0.076
18	52899913	A	C	18	55232682	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.60782232764565E-4	0.184
18	52899913	A	G	18	55232682	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.45466088241419E-4	0.052
18	52899913	A	T	18	55232682	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.18252119347822E-4	0.184
18	52899914	G	A	18	55232683	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.41933900317239E-5	0.126
18	52899914	G	C	18	55232683	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.56709945210182E-5	0.006
18	52899914	G	T	18	55232683	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.91098152898545E-5	0.018
18	52901771	C	A	18	55234540	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.08593233294061E-5	0.024
18	52901771	C	G	18	55234540	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.90362102736261E-5	0.014
18	52901771	C	T	18	55234540	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.08593233294061E-5	0.012
18	52901772	A	C	18	55234541	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.12477870182769E-5	0.016
18	52901772	A	G	18	55234541	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.38245402744889E-5	0.016
18	52901772	A	T	18	55234541	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.45011125768405E-5	0.018
18	52901773	A	C	18	55234542	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0328949211770299	0.328
18	52901773	A	G	18	55234542	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0560633595032653	0.384
18	52901773	A	T	18	55234542	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0661740500113247	0.398
18	52901774	C	A	18	55234543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999773719608184	0.864
18	52901774	C	G	18	55234543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999931426718015	0.924
18	52901774	C	T	18	55234543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999379537737759	0.844
18	52901775	C	A	18	55234544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.01934861696345E-4	0.02
18	52901775	C	G	18	55234544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.53043269792242E-4	0.038
18	52901775	C	T	18	55234544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.49336882174506E-4	0.056
18	52901776	T	A	18	55234545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.957081851551598	0.614
18	52901776	T	C	18	55234545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.204912145013435	0.348
18	52901776	T	G	18	55234545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.97382879699566	0.58
18	52901777	A	C	18	55234546	y	y	splicing	TCF4(NM_001243226:exon18:c.1792+2T>G;NM_001243230:exon16:c.1477+2T>G;NM_001243234:exon10:c.1006+2T>G;NM_001243232:exon13:c.1273+2T>G;NM_001243236:exon10:c.1006+2T>G;NM_001083962:exon17:c.1486+2T>G;NM_003199:exon17:c.1486+2T>G;NM_001243235:exon10:c.1006+2T>G;NM_001243233:exon13:c.1096+2T>G;NM_001243231:exon15:c.1360+2T>G;NM_001243228:exon17:c.1504+2T>G;NM_001243227:exon16:c.1414+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1486+2T>G;ENST00000356073:exon17:c.1486+2T>G;ENST00000568673:exon16:c.1414+2T>G;ENST00000543082:exon15:c.1360+2T>G;ENST00000457482:exon10:c.1006+2T>G;ENST00000540999:exon16:c.1414+2T>G;ENST00000537578:exon16:c.1414+2T>G;ENST00000564999:exon17:c.1486+2T>G;ENST00000568740:exon16:c.1411+2T>G;ENST00000537856:exon12:c.1096+2T>G;ENST00000544241:exon13:c.1273+2T>G;ENST00000561992:exon13:c.1096+2T>G;ENST00000561831:exon10:c.1006+2T>G;ENST00000565018:exon17:c.1486+2T>G;ENST00000566279:exon15:c.1306+2T>G;ENST00000566286:exon16:c.1477+2T>G;ENST00000567880:exon14:c.1306+2T>G;ENST00000564228:exon13:c.1273+2T>G;ENST00000570287:exon10:c.1006+2T>G;ENST00000398339:exon18:c.1792+2T>G;ENST00000564403:exon17:c.1504+2T>G;ENST00000570177:exon12:c.1096+2T>G)	.	.	0.999988247793601	0.93
18	52901777	A	G	18	55234546	y	y	splicing	TCF4(NM_001243226:exon18:c.1792+2T>C;NM_001243230:exon16:c.1477+2T>C;NM_001243234:exon10:c.1006+2T>C;NM_001243232:exon13:c.1273+2T>C;NM_001243236:exon10:c.1006+2T>C;NM_001083962:exon17:c.1486+2T>C;NM_003199:exon17:c.1486+2T>C;NM_001243235:exon10:c.1006+2T>C;NM_001243233:exon13:c.1096+2T>C;NM_001243231:exon15:c.1360+2T>C;NM_001243228:exon17:c.1504+2T>C;NM_001243227:exon16:c.1414+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1486+2T>C;ENST00000356073:exon17:c.1486+2T>C;ENST00000568673:exon16:c.1414+2T>C;ENST00000543082:exon15:c.1360+2T>C;ENST00000457482:exon10:c.1006+2T>C;ENST00000540999:exon16:c.1414+2T>C;ENST00000537578:exon16:c.1414+2T>C;ENST00000564999:exon17:c.1486+2T>C;ENST00000568740:exon16:c.1411+2T>C;ENST00000537856:exon12:c.1096+2T>C;ENST00000544241:exon13:c.1273+2T>C;ENST00000561992:exon13:c.1096+2T>C;ENST00000561831:exon10:c.1006+2T>C;ENST00000565018:exon17:c.1486+2T>C;ENST00000566279:exon15:c.1306+2T>C;ENST00000566286:exon16:c.1477+2T>C;ENST00000567880:exon14:c.1306+2T>C;ENST00000564228:exon13:c.1273+2T>C;ENST00000570287:exon10:c.1006+2T>C;ENST00000398339:exon18:c.1792+2T>C;ENST00000564403:exon17:c.1504+2T>C;ENST00000570177:exon12:c.1096+2T>C)	.	.	0.985752408902503	0.65
18	52901777	A	T	18	55234546	y	y	splicing	TCF4(NM_001243226:exon18:c.1792+2T>A;NM_001243230:exon16:c.1477+2T>A;NM_001243234:exon10:c.1006+2T>A;NM_001243232:exon13:c.1273+2T>A;NM_001243236:exon10:c.1006+2T>A;NM_001083962:exon17:c.1486+2T>A;NM_003199:exon17:c.1486+2T>A;NM_001243235:exon10:c.1006+2T>A;NM_001243233:exon13:c.1096+2T>A;NM_001243231:exon15:c.1360+2T>A;NM_001243228:exon17:c.1504+2T>A;NM_001243227:exon16:c.1414+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1486+2T>A;ENST00000356073:exon17:c.1486+2T>A;ENST00000568673:exon16:c.1414+2T>A;ENST00000543082:exon15:c.1360+2T>A;ENST00000457482:exon10:c.1006+2T>A;ENST00000540999:exon16:c.1414+2T>A;ENST00000537578:exon16:c.1414+2T>A;ENST00000564999:exon17:c.1486+2T>A;ENST00000568740:exon16:c.1411+2T>A;ENST00000537856:exon12:c.1096+2T>A;ENST00000544241:exon13:c.1273+2T>A;ENST00000561992:exon13:c.1096+2T>A;ENST00000561831:exon10:c.1006+2T>A;ENST00000565018:exon17:c.1486+2T>A;ENST00000566279:exon15:c.1306+2T>A;ENST00000566286:exon16:c.1477+2T>A;ENST00000567880:exon14:c.1306+2T>A;ENST00000564228:exon13:c.1273+2T>A;ENST00000570287:exon10:c.1006+2T>A;ENST00000398339:exon18:c.1792+2T>A;ENST00000564403:exon17:c.1504+2T>A;ENST00000570177:exon12:c.1096+2T>A)	.	.	0.999988247793601	0.93
18	52901778	C	A	18	55234547	y	y	splicing	TCF4(NM_001243226:exon18:c.1792+1G>T;NM_001243230:exon16:c.1477+1G>T;NM_001243234:exon10:c.1006+1G>T;NM_001243232:exon13:c.1273+1G>T;NM_001243236:exon10:c.1006+1G>T;NM_001083962:exon17:c.1486+1G>T;NM_003199:exon17:c.1486+1G>T;NM_001243235:exon10:c.1006+1G>T;NM_001243233:exon13:c.1096+1G>T;NM_001243231:exon15:c.1360+1G>T;NM_001243228:exon17:c.1504+1G>T;NM_001243227:exon16:c.1414+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1486+1G>T;ENST00000356073:exon17:c.1486+1G>T;ENST00000568673:exon16:c.1414+1G>T;ENST00000543082:exon15:c.1360+1G>T;ENST00000457482:exon10:c.1006+1G>T;ENST00000540999:exon16:c.1414+1G>T;ENST00000537578:exon16:c.1414+1G>T;ENST00000564999:exon17:c.1486+1G>T;ENST00000568740:exon16:c.1411+1G>T;ENST00000537856:exon12:c.1096+1G>T;ENST00000544241:exon13:c.1273+1G>T;ENST00000561992:exon13:c.1096+1G>T;ENST00000561831:exon10:c.1006+1G>T;ENST00000565018:exon17:c.1486+1G>T;ENST00000566279:exon15:c.1306+1G>T;ENST00000566286:exon16:c.1477+1G>T;ENST00000567880:exon14:c.1306+1G>T;ENST00000564228:exon13:c.1273+1G>T;ENST00000570287:exon10:c.1006+1G>T;ENST00000398339:exon18:c.1792+1G>T;ENST00000564403:exon17:c.1504+1G>T;ENST00000570177:exon12:c.1096+1G>T)	.	.	0.999989072007339	0.932
18	52901778	C	G	18	55234547	y	y	splicing	TCF4(NM_001243226:exon18:c.1792+1G>C;NM_001243230:exon16:c.1477+1G>C;NM_001243234:exon10:c.1006+1G>C;NM_001243232:exon13:c.1273+1G>C;NM_001243236:exon10:c.1006+1G>C;NM_001083962:exon17:c.1486+1G>C;NM_003199:exon17:c.1486+1G>C;NM_001243235:exon10:c.1006+1G>C;NM_001243233:exon13:c.1096+1G>C;NM_001243231:exon15:c.1360+1G>C;NM_001243228:exon17:c.1504+1G>C;NM_001243227:exon16:c.1414+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1486+1G>C;ENST00000356073:exon17:c.1486+1G>C;ENST00000568673:exon16:c.1414+1G>C;ENST00000543082:exon15:c.1360+1G>C;ENST00000457482:exon10:c.1006+1G>C;ENST00000540999:exon16:c.1414+1G>C;ENST00000537578:exon16:c.1414+1G>C;ENST00000564999:exon17:c.1486+1G>C;ENST00000568740:exon16:c.1411+1G>C;ENST00000537856:exon12:c.1096+1G>C;ENST00000544241:exon13:c.1273+1G>C;ENST00000561992:exon13:c.1096+1G>C;ENST00000561831:exon10:c.1006+1G>C;ENST00000565018:exon17:c.1486+1G>C;ENST00000566279:exon15:c.1306+1G>C;ENST00000566286:exon16:c.1477+1G>C;ENST00000567880:exon14:c.1306+1G>C;ENST00000564228:exon13:c.1273+1G>C;ENST00000570287:exon10:c.1006+1G>C;ENST00000398339:exon18:c.1792+1G>C;ENST00000564403:exon17:c.1504+1G>C;ENST00000570177:exon12:c.1096+1G>C)	.	.	0.999989072007339	0.932
18	52901778	C	T	18	55234547	y	y	splicing	TCF4(NM_001243226:exon18:c.1792+1G>A;NM_001243230:exon16:c.1477+1G>A;NM_001243234:exon10:c.1006+1G>A;NM_001243232:exon13:c.1273+1G>A;NM_001243236:exon10:c.1006+1G>A;NM_001083962:exon17:c.1486+1G>A;NM_003199:exon17:c.1486+1G>A;NM_001243235:exon10:c.1006+1G>A;NM_001243233:exon13:c.1096+1G>A;NM_001243231:exon15:c.1360+1G>A;NM_001243228:exon17:c.1504+1G>A;NM_001243227:exon16:c.1414+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1486+1G>A;ENST00000356073:exon17:c.1486+1G>A;ENST00000568673:exon16:c.1414+1G>A;ENST00000543082:exon15:c.1360+1G>A;ENST00000457482:exon10:c.1006+1G>A;ENST00000540999:exon16:c.1414+1G>A;ENST00000537578:exon16:c.1414+1G>A;ENST00000564999:exon17:c.1486+1G>A;ENST00000568740:exon16:c.1411+1G>A;ENST00000537856:exon12:c.1096+1G>A;ENST00000544241:exon13:c.1273+1G>A;ENST00000561992:exon13:c.1096+1G>A;ENST00000561831:exon10:c.1006+1G>A;ENST00000565018:exon17:c.1486+1G>A;ENST00000566279:exon15:c.1306+1G>A;ENST00000566286:exon16:c.1477+1G>A;ENST00000567880:exon14:c.1306+1G>A;ENST00000564228:exon13:c.1273+1G>A;ENST00000570287:exon10:c.1006+1G>A;ENST00000398339:exon18:c.1792+1G>A;ENST00000564403:exon17:c.1504+1G>A;ENST00000570177:exon12:c.1096+1G>A)	.	.	0.999989072007339	0.932
18	52901779	C	A	18	55234548	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G1006T:p.G336C;TCF4:NM_001243235:exon9:c.G1006T:p.G336C;TCF4:NM_001243231:exon14:c.G1360T:p.G454C;TCF4:NM_003199:exon16:c.G1486T:p.G496C;TCF4:NM_001243230:exon15:c.G1477T:p.G493C;TCF4:NM_001243232:exon12:c.G1273T:p.G425C;TCF4:NM_001083962:exon16:c.G1486T:p.G496C;TCF4:NM_001243227:exon15:c.G1414T:p.G472C;TCF4:NM_001243234:exon9:c.G1006T:p.G336C;TCF4:NM_001243226:exon17:c.G1792T:p.G598C;TCF4:NM_001243228:exon16:c.G1504T:p.G502C;TCF4:NM_001243233:exon12:c.G1096T:p.G366C;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1306T:p.G436C;ENSG00000196628:ENST00000561831:exon9:c.G1006T:p.G336C;ENSG00000196628:ENST00000564999:exon16:c.G1486T:p.G496C;ENSG00000196628:ENST00000568740:exon15:c.G1411T:p.G471C;ENSG00000196628:ENST00000561992:exon12:c.G1096T:p.G366C;ENSG00000196628:ENST00000565018:exon16:c.G1486T:p.G496C;ENSG00000196628:ENST00000354452:exon16:c.G1486T:p.G496C;ENSG00000196628:ENST00000566286:exon15:c.G1477T:p.G493C;ENSG00000196628:ENST00000356073:exon16:c.G1486T:p.G496C;ENSG00000196628:ENST00000543082:exon14:c.G1360T:p.G454C;ENSG00000196628:ENST00000570287:exon9:c.G1006T:p.G336C;ENSG00000196628:ENST00000544241:exon12:c.G1273T:p.G425C;ENSG00000196628:ENST00000537578:exon15:c.G1414T:p.G472C;ENSG00000196628:ENST00000564403:exon16:c.G1504T:p.G502C;ENSG00000196628:ENST00000570177:exon11:c.G1096T:p.G366C;ENSG00000196628:ENST00000457482:exon9:c.G1006T:p.G336C;ENSG00000196628:ENST00000568673:exon15:c.G1414T:p.G472C;ENSG00000196628:ENST00000540999:exon15:c.G1414T:p.G472C;ENSG00000196628:ENST00000537856:exon11:c.G1096T:p.G366C;ENSG00000196628:ENST00000398339:exon17:c.G1792T:p.G598C;ENSG00000196628:ENST00000564228:exon12:c.G1273T:p.G425C;ENSG00000196628:ENST00000567880:exon13:c.G1306T:p.G436C;	0.999986322233418	0.99
18	52901779	C	G	18	55234548	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G1006C:p.G336R;TCF4:NM_001243235:exon9:c.G1006C:p.G336R;TCF4:NM_001243231:exon14:c.G1360C:p.G454R;TCF4:NM_003199:exon16:c.G1486C:p.G496R;TCF4:NM_001243230:exon15:c.G1477C:p.G493R;TCF4:NM_001243232:exon12:c.G1273C:p.G425R;TCF4:NM_001083962:exon16:c.G1486C:p.G496R;TCF4:NM_001243227:exon15:c.G1414C:p.G472R;TCF4:NM_001243234:exon9:c.G1006C:p.G336R;TCF4:NM_001243226:exon17:c.G1792C:p.G598R;TCF4:NM_001243228:exon16:c.G1504C:p.G502R;TCF4:NM_001243233:exon12:c.G1096C:p.G366R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1306C:p.G436R;ENSG00000196628:ENST00000561831:exon9:c.G1006C:p.G336R;ENSG00000196628:ENST00000564999:exon16:c.G1486C:p.G496R;ENSG00000196628:ENST00000568740:exon15:c.G1411C:p.G471R;ENSG00000196628:ENST00000561992:exon12:c.G1096C:p.G366R;ENSG00000196628:ENST00000565018:exon16:c.G1486C:p.G496R;ENSG00000196628:ENST00000354452:exon16:c.G1486C:p.G496R;ENSG00000196628:ENST00000566286:exon15:c.G1477C:p.G493R;ENSG00000196628:ENST00000356073:exon16:c.G1486C:p.G496R;ENSG00000196628:ENST00000543082:exon14:c.G1360C:p.G454R;ENSG00000196628:ENST00000570287:exon9:c.G1006C:p.G336R;ENSG00000196628:ENST00000544241:exon12:c.G1273C:p.G425R;ENSG00000196628:ENST00000537578:exon15:c.G1414C:p.G472R;ENSG00000196628:ENST00000564403:exon16:c.G1504C:p.G502R;ENSG00000196628:ENST00000570177:exon11:c.G1096C:p.G366R;ENSG00000196628:ENST00000457482:exon9:c.G1006C:p.G336R;ENSG00000196628:ENST00000568673:exon15:c.G1414C:p.G472R;ENSG00000196628:ENST00000540999:exon15:c.G1414C:p.G472R;ENSG00000196628:ENST00000537856:exon11:c.G1096C:p.G366R;ENSG00000196628:ENST00000398339:exon17:c.G1792C:p.G598R;ENSG00000196628:ENST00000564228:exon12:c.G1273C:p.G425R;ENSG00000196628:ENST00000567880:exon13:c.G1306C:p.G436R;	0.999993671539411	0.982
18	52901779	C	T	18	55234548	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G1006A:p.G336S;TCF4:NM_001243235:exon9:c.G1006A:p.G336S;TCF4:NM_001243231:exon14:c.G1360A:p.G454S;TCF4:NM_003199:exon16:c.G1486A:p.G496S;TCF4:NM_001243230:exon15:c.G1477A:p.G493S;TCF4:NM_001243232:exon12:c.G1273A:p.G425S;TCF4:NM_001083962:exon16:c.G1486A:p.G496S;TCF4:NM_001243227:exon15:c.G1414A:p.G472S;TCF4:NM_001243234:exon9:c.G1006A:p.G336S;TCF4:NM_001243226:exon17:c.G1792A:p.G598S;TCF4:NM_001243228:exon16:c.G1504A:p.G502S;TCF4:NM_001243233:exon12:c.G1096A:p.G366S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1306A:p.G436S;ENSG00000196628:ENST00000561831:exon9:c.G1006A:p.G336S;ENSG00000196628:ENST00000564999:exon16:c.G1486A:p.G496S;ENSG00000196628:ENST00000568740:exon15:c.G1411A:p.G471S;ENSG00000196628:ENST00000561992:exon12:c.G1096A:p.G366S;ENSG00000196628:ENST00000565018:exon16:c.G1486A:p.G496S;ENSG00000196628:ENST00000354452:exon16:c.G1486A:p.G496S;ENSG00000196628:ENST00000566286:exon15:c.G1477A:p.G493S;ENSG00000196628:ENST00000356073:exon16:c.G1486A:p.G496S;ENSG00000196628:ENST00000543082:exon14:c.G1360A:p.G454S;ENSG00000196628:ENST00000570287:exon9:c.G1006A:p.G336S;ENSG00000196628:ENST00000544241:exon12:c.G1273A:p.G425S;ENSG00000196628:ENST00000537578:exon15:c.G1414A:p.G472S;ENSG00000196628:ENST00000564403:exon16:c.G1504A:p.G502S;ENSG00000196628:ENST00000570177:exon11:c.G1096A:p.G366S;ENSG00000196628:ENST00000457482:exon9:c.G1006A:p.G336S;ENSG00000196628:ENST00000568673:exon15:c.G1414A:p.G472S;ENSG00000196628:ENST00000540999:exon15:c.G1414A:p.G472S;ENSG00000196628:ENST00000537856:exon11:c.G1096A:p.G366S;ENSG00000196628:ENST00000398339:exon17:c.G1792A:p.G598S;ENSG00000196628:ENST00000564228:exon12:c.G1273A:p.G425S;ENSG00000196628:ENST00000567880:exon13:c.G1306A:p.G436S;	0.999986366160453	0.994
18	52901780	T	A	18	55234549	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.A1005T:p.R335S;TCF4:NM_001243235:exon9:c.A1005T:p.R335S;TCF4:NM_001243231:exon14:c.A1359T:p.R453S;TCF4:NM_003199:exon16:c.A1485T:p.R495S;TCF4:NM_001243230:exon15:c.A1476T:p.R492S;TCF4:NM_001243232:exon12:c.A1272T:p.R424S;TCF4:NM_001083962:exon16:c.A1485T:p.R495S;TCF4:NM_001243227:exon15:c.A1413T:p.R471S;TCF4:NM_001243234:exon9:c.A1005T:p.R335S;TCF4:NM_001243226:exon17:c.A1791T:p.R597S;TCF4:NM_001243228:exon16:c.A1503T:p.R501S;TCF4:NM_001243233:exon12:c.A1095T:p.R365S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.A1305T:p.R435S;ENSG00000196628:ENST00000561831:exon9:c.A1005T:p.R335S;ENSG00000196628:ENST00000564999:exon16:c.A1485T:p.R495S;ENSG00000196628:ENST00000568740:exon15:c.A1410T:p.R470S;ENSG00000196628:ENST00000561992:exon12:c.A1095T:p.R365S;ENSG00000196628:ENST00000565018:exon16:c.A1485T:p.R495S;ENSG00000196628:ENST00000354452:exon16:c.A1485T:p.R495S;ENSG00000196628:ENST00000566286:exon15:c.A1476T:p.R492S;ENSG00000196628:ENST00000356073:exon16:c.A1485T:p.R495S;ENSG00000196628:ENST00000543082:exon14:c.A1359T:p.R453S;ENSG00000196628:ENST00000570287:exon9:c.A1005T:p.R335S;ENSG00000196628:ENST00000544241:exon12:c.A1272T:p.R424S;ENSG00000196628:ENST00000537578:exon15:c.A1413T:p.R471S;ENSG00000196628:ENST00000564403:exon16:c.A1503T:p.R501S;ENSG00000196628:ENST00000570177:exon11:c.A1095T:p.R365S;ENSG00000196628:ENST00000457482:exon9:c.A1005T:p.R335S;ENSG00000196628:ENST00000568673:exon15:c.A1413T:p.R471S;ENSG00000196628:ENST00000540999:exon15:c.A1413T:p.R471S;ENSG00000196628:ENST00000537856:exon11:c.A1095T:p.R365S;ENSG00000196628:ENST00000398339:exon17:c.A1791T:p.R597S;ENSG00000196628:ENST00000564228:exon12:c.A1272T:p.R424S;ENSG00000196628:ENST00000567880:exon13:c.A1305T:p.R435S;	0.837398010474963	0.592
18	52901780	T	C	18	55234549	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon9:c.A1005G:p.R335R;TCF4:NM_001243235:exon9:c.A1005G:p.R335R;TCF4:NM_001243231:exon14:c.A1359G:p.R453R;TCF4:NM_003199:exon16:c.A1485G:p.R495R;TCF4:NM_001243230:exon15:c.A1476G:p.R492R;TCF4:NM_001243232:exon12:c.A1272G:p.R424R;TCF4:NM_001083962:exon16:c.A1485G:p.R495R;TCF4:NM_001243227:exon15:c.A1413G:p.R471R;TCF4:NM_001243234:exon9:c.A1005G:p.R335R;TCF4:NM_001243226:exon17:c.A1791G:p.R597R;TCF4:NM_001243228:exon16:c.A1503G:p.R501R;TCF4:NM_001243233:exon12:c.A1095G:p.R365R;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.A1305G:p.R435R;ENSG00000196628:ENST00000561831:exon9:c.A1005G:p.R335R;ENSG00000196628:ENST00000564999:exon16:c.A1485G:p.R495R;ENSG00000196628:ENST00000568740:exon15:c.A1410G:p.R470R;ENSG00000196628:ENST00000561992:exon12:c.A1095G:p.R365R;ENSG00000196628:ENST00000565018:exon16:c.A1485G:p.R495R;ENSG00000196628:ENST00000354452:exon16:c.A1485G:p.R495R;ENSG00000196628:ENST00000566286:exon15:c.A1476G:p.R492R;ENSG00000196628:ENST00000356073:exon16:c.A1485G:p.R495R;ENSG00000196628:ENST00000543082:exon14:c.A1359G:p.R453R;ENSG00000196628:ENST00000570287:exon9:c.A1005G:p.R335R;ENSG00000196628:ENST00000544241:exon12:c.A1272G:p.R424R;ENSG00000196628:ENST00000537578:exon15:c.A1413G:p.R471R;ENSG00000196628:ENST00000564403:exon16:c.A1503G:p.R501R;ENSG00000196628:ENST00000570177:exon11:c.A1095G:p.R365R;ENSG00000196628:ENST00000457482:exon9:c.A1005G:p.R335R;ENSG00000196628:ENST00000568673:exon15:c.A1413G:p.R471R;ENSG00000196628:ENST00000540999:exon15:c.A1413G:p.R471R;ENSG00000196628:ENST00000537856:exon11:c.A1095G:p.R365R;ENSG00000196628:ENST00000398339:exon17:c.A1791G:p.R597R;ENSG00000196628:ENST00000564228:exon12:c.A1272G:p.R424R;ENSG00000196628:ENST00000567880:exon13:c.A1305G:p.R435R;	0.861791935638731	0.522
18	52901780	T	G	18	55234549	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.A1005C:p.R335S;TCF4:NM_001243235:exon9:c.A1005C:p.R335S;TCF4:NM_001243231:exon14:c.A1359C:p.R453S;TCF4:NM_003199:exon16:c.A1485C:p.R495S;TCF4:NM_001243230:exon15:c.A1476C:p.R492S;TCF4:NM_001243232:exon12:c.A1272C:p.R424S;TCF4:NM_001083962:exon16:c.A1485C:p.R495S;TCF4:NM_001243227:exon15:c.A1413C:p.R471S;TCF4:NM_001243234:exon9:c.A1005C:p.R335S;TCF4:NM_001243226:exon17:c.A1791C:p.R597S;TCF4:NM_001243228:exon16:c.A1503C:p.R501S;TCF4:NM_001243233:exon12:c.A1095C:p.R365S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.A1305C:p.R435S;ENSG00000196628:ENST00000561831:exon9:c.A1005C:p.R335S;ENSG00000196628:ENST00000564999:exon16:c.A1485C:p.R495S;ENSG00000196628:ENST00000568740:exon15:c.A1410C:p.R470S;ENSG00000196628:ENST00000561992:exon12:c.A1095C:p.R365S;ENSG00000196628:ENST00000565018:exon16:c.A1485C:p.R495S;ENSG00000196628:ENST00000354452:exon16:c.A1485C:p.R495S;ENSG00000196628:ENST00000566286:exon15:c.A1476C:p.R492S;ENSG00000196628:ENST00000356073:exon16:c.A1485C:p.R495S;ENSG00000196628:ENST00000543082:exon14:c.A1359C:p.R453S;ENSG00000196628:ENST00000570287:exon9:c.A1005C:p.R335S;ENSG00000196628:ENST00000544241:exon12:c.A1272C:p.R424S;ENSG00000196628:ENST00000537578:exon15:c.A1413C:p.R471S;ENSG00000196628:ENST00000564403:exon16:c.A1503C:p.R501S;ENSG00000196628:ENST00000570177:exon11:c.A1095C:p.R365S;ENSG00000196628:ENST00000457482:exon9:c.A1005C:p.R335S;ENSG00000196628:ENST00000568673:exon15:c.A1413C:p.R471S;ENSG00000196628:ENST00000540999:exon15:c.A1413C:p.R471S;ENSG00000196628:ENST00000537856:exon11:c.A1095C:p.R365S;ENSG00000196628:ENST00000398339:exon17:c.A1791C:p.R597S;ENSG00000196628:ENST00000564228:exon12:c.A1272C:p.R424S;ENSG00000196628:ENST00000567880:exon13:c.A1305C:p.R435S;	0.445749993731555	0.516
18	52901781	C	A	18	55234550	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G1004T:p.R335I;TCF4:NM_001243235:exon9:c.G1004T:p.R335I;TCF4:NM_001243231:exon14:c.G1358T:p.R453I;TCF4:NM_003199:exon16:c.G1484T:p.R495I;TCF4:NM_001243230:exon15:c.G1475T:p.R492I;TCF4:NM_001243232:exon12:c.G1271T:p.R424I;TCF4:NM_001083962:exon16:c.G1484T:p.R495I;TCF4:NM_001243227:exon15:c.G1412T:p.R471I;TCF4:NM_001243234:exon9:c.G1004T:p.R335I;TCF4:NM_001243226:exon17:c.G1790T:p.R597I;TCF4:NM_001243228:exon16:c.G1502T:p.R501I;TCF4:NM_001243233:exon12:c.G1094T:p.R365I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1304T:p.R435I;ENSG00000196628:ENST00000561831:exon9:c.G1004T:p.R335I;ENSG00000196628:ENST00000564999:exon16:c.G1484T:p.R495I;ENSG00000196628:ENST00000568740:exon15:c.G1409T:p.R470I;ENSG00000196628:ENST00000561992:exon12:c.G1094T:p.R365I;ENSG00000196628:ENST00000565018:exon16:c.G1484T:p.R495I;ENSG00000196628:ENST00000354452:exon16:c.G1484T:p.R495I;ENSG00000196628:ENST00000566286:exon15:c.G1475T:p.R492I;ENSG00000196628:ENST00000356073:exon16:c.G1484T:p.R495I;ENSG00000196628:ENST00000543082:exon14:c.G1358T:p.R453I;ENSG00000196628:ENST00000570287:exon9:c.G1004T:p.R335I;ENSG00000196628:ENST00000544241:exon12:c.G1271T:p.R424I;ENSG00000196628:ENST00000537578:exon15:c.G1412T:p.R471I;ENSG00000196628:ENST00000564403:exon16:c.G1502T:p.R501I;ENSG00000196628:ENST00000570177:exon11:c.G1094T:p.R365I;ENSG00000196628:ENST00000457482:exon9:c.G1004T:p.R335I;ENSG00000196628:ENST00000568673:exon15:c.G1412T:p.R471I;ENSG00000196628:ENST00000540999:exon15:c.G1412T:p.R471I;ENSG00000196628:ENST00000537856:exon11:c.G1094T:p.R365I;ENSG00000196628:ENST00000398339:exon17:c.G1790T:p.R597I;ENSG00000196628:ENST00000564228:exon12:c.G1271T:p.R424I;ENSG00000196628:ENST00000567880:exon13:c.G1304T:p.R435I;	0.995785825332025	0.794
18	52901781	C	G	18	55234550	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G1004C:p.R335T;TCF4:NM_001243235:exon9:c.G1004C:p.R335T;TCF4:NM_001243231:exon14:c.G1358C:p.R453T;TCF4:NM_003199:exon16:c.G1484C:p.R495T;TCF4:NM_001243230:exon15:c.G1475C:p.R492T;TCF4:NM_001243232:exon12:c.G1271C:p.R424T;TCF4:NM_001083962:exon16:c.G1484C:p.R495T;TCF4:NM_001243227:exon15:c.G1412C:p.R471T;TCF4:NM_001243234:exon9:c.G1004C:p.R335T;TCF4:NM_001243226:exon17:c.G1790C:p.R597T;TCF4:NM_001243228:exon16:c.G1502C:p.R501T;TCF4:NM_001243233:exon12:c.G1094C:p.R365T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1304C:p.R435T;ENSG00000196628:ENST00000561831:exon9:c.G1004C:p.R335T;ENSG00000196628:ENST00000564999:exon16:c.G1484C:p.R495T;ENSG00000196628:ENST00000568740:exon15:c.G1409C:p.R470T;ENSG00000196628:ENST00000561992:exon12:c.G1094C:p.R365T;ENSG00000196628:ENST00000565018:exon16:c.G1484C:p.R495T;ENSG00000196628:ENST00000354452:exon16:c.G1484C:p.R495T;ENSG00000196628:ENST00000566286:exon15:c.G1475C:p.R492T;ENSG00000196628:ENST00000356073:exon16:c.G1484C:p.R495T;ENSG00000196628:ENST00000543082:exon14:c.G1358C:p.R453T;ENSG00000196628:ENST00000570287:exon9:c.G1004C:p.R335T;ENSG00000196628:ENST00000544241:exon12:c.G1271C:p.R424T;ENSG00000196628:ENST00000537578:exon15:c.G1412C:p.R471T;ENSG00000196628:ENST00000564403:exon16:c.G1502C:p.R501T;ENSG00000196628:ENST00000570177:exon11:c.G1094C:p.R365T;ENSG00000196628:ENST00000457482:exon9:c.G1004C:p.R335T;ENSG00000196628:ENST00000568673:exon15:c.G1412C:p.R471T;ENSG00000196628:ENST00000540999:exon15:c.G1412C:p.R471T;ENSG00000196628:ENST00000537856:exon11:c.G1094C:p.R365T;ENSG00000196628:ENST00000398339:exon17:c.G1790C:p.R597T;ENSG00000196628:ENST00000564228:exon12:c.G1271C:p.R424T;ENSG00000196628:ENST00000567880:exon13:c.G1304C:p.R435T;	0.747452640907062	0.642
18	52901781	C	T	18	55234550	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G1004A:p.R335K;TCF4:NM_001243235:exon9:c.G1004A:p.R335K;TCF4:NM_001243231:exon14:c.G1358A:p.R453K;TCF4:NM_003199:exon16:c.G1484A:p.R495K;TCF4:NM_001243230:exon15:c.G1475A:p.R492K;TCF4:NM_001243232:exon12:c.G1271A:p.R424K;TCF4:NM_001083962:exon16:c.G1484A:p.R495K;TCF4:NM_001243227:exon15:c.G1412A:p.R471K;TCF4:NM_001243234:exon9:c.G1004A:p.R335K;TCF4:NM_001243226:exon17:c.G1790A:p.R597K;TCF4:NM_001243228:exon16:c.G1502A:p.R501K;TCF4:NM_001243233:exon12:c.G1094A:p.R365K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1304A:p.R435K;ENSG00000196628:ENST00000561831:exon9:c.G1004A:p.R335K;ENSG00000196628:ENST00000564999:exon16:c.G1484A:p.R495K;ENSG00000196628:ENST00000568740:exon15:c.G1409A:p.R470K;ENSG00000196628:ENST00000561992:exon12:c.G1094A:p.R365K;ENSG00000196628:ENST00000565018:exon16:c.G1484A:p.R495K;ENSG00000196628:ENST00000354452:exon16:c.G1484A:p.R495K;ENSG00000196628:ENST00000566286:exon15:c.G1475A:p.R492K;ENSG00000196628:ENST00000356073:exon16:c.G1484A:p.R495K;ENSG00000196628:ENST00000543082:exon14:c.G1358A:p.R453K;ENSG00000196628:ENST00000570287:exon9:c.G1004A:p.R335K;ENSG00000196628:ENST00000544241:exon12:c.G1271A:p.R424K;ENSG00000196628:ENST00000537578:exon15:c.G1412A:p.R471K;ENSG00000196628:ENST00000564403:exon16:c.G1502A:p.R501K;ENSG00000196628:ENST00000570177:exon11:c.G1094A:p.R365K;ENSG00000196628:ENST00000457482:exon9:c.G1004A:p.R335K;ENSG00000196628:ENST00000568673:exon15:c.G1412A:p.R471K;ENSG00000196628:ENST00000540999:exon15:c.G1412A:p.R471K;ENSG00000196628:ENST00000537856:exon11:c.G1094A:p.R365K;ENSG00000196628:ENST00000398339:exon17:c.G1790A:p.R597K;ENSG00000196628:ENST00000564228:exon12:c.G1271A:p.R424K;ENSG00000196628:ENST00000567880:exon13:c.G1304A:p.R435K;	0.949114543337164	0.732
18	52901913	A	C	18	55234682	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.T872G:p.V291G;TCF4:NM_001243235:exon9:c.T872G:p.V291G;TCF4:NM_001243231:exon14:c.T1226G:p.V409G;TCF4:NM_003199:exon16:c.T1352G:p.V451G;TCF4:NM_001243230:exon15:c.T1343G:p.V448G;TCF4:NM_001243232:exon12:c.T1139G:p.V380G;TCF4:NM_001083962:exon16:c.T1352G:p.V451G;TCF4:NM_001243227:exon15:c.T1280G:p.V427G;TCF4:NM_001243234:exon9:c.T872G:p.V291G;TCF4:NM_001243226:exon17:c.T1658G:p.V553G;TCF4:NM_001243228:exon16:c.T1370G:p.V457G;TCF4:NM_001243233:exon12:c.T962G:p.V321G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.T1172G:p.V391G;ENSG00000196628:ENST00000561831:exon9:c.T872G:p.V291G;ENSG00000196628:ENST00000564999:exon16:c.T1352G:p.V451G;ENSG00000196628:ENST00000568740:exon15:c.T1277G:p.V426G;ENSG00000196628:ENST00000561992:exon12:c.T962G:p.V321G;ENSG00000196628:ENST00000565018:exon16:c.T1352G:p.V451G;ENSG00000196628:ENST00000354452:exon16:c.T1352G:p.V451G;ENSG00000196628:ENST00000566286:exon15:c.T1343G:p.V448G;ENSG00000196628:ENST00000356073:exon16:c.T1352G:p.V451G;ENSG00000196628:ENST00000543082:exon14:c.T1226G:p.V409G;ENSG00000196628:ENST00000570287:exon9:c.T872G:p.V291G;ENSG00000196628:ENST00000544241:exon12:c.T1139G:p.V380G;ENSG00000196628:ENST00000537578:exon15:c.T1280G:p.V427G;ENSG00000196628:ENST00000564403:exon16:c.T1370G:p.V457G;ENSG00000196628:ENST00000570177:exon11:c.T962G:p.V321G;ENSG00000196628:ENST00000457482:exon9:c.T872G:p.V291G;ENSG00000196628:ENST00000568673:exon15:c.T1280G:p.V427G;ENSG00000196628:ENST00000540999:exon15:c.T1280G:p.V427G;ENSG00000196628:ENST00000537856:exon11:c.T962G:p.V321G;ENSG00000196628:ENST00000398339:exon17:c.T1658G:p.V553G;ENSG00000196628:ENST00000564228:exon12:c.T1139G:p.V380G;ENSG00000196628:ENST00000567880:exon13:c.T1172G:p.V391G;	0.00865565658383878	0.13
18	52901913	A	G	18	55234682	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.T872C:p.V291A;TCF4:NM_001243235:exon9:c.T872C:p.V291A;TCF4:NM_001243231:exon14:c.T1226C:p.V409A;TCF4:NM_003199:exon16:c.T1352C:p.V451A;TCF4:NM_001243230:exon15:c.T1343C:p.V448A;TCF4:NM_001243232:exon12:c.T1139C:p.V380A;TCF4:NM_001083962:exon16:c.T1352C:p.V451A;TCF4:NM_001243227:exon15:c.T1280C:p.V427A;TCF4:NM_001243234:exon9:c.T872C:p.V291A;TCF4:NM_001243226:exon17:c.T1658C:p.V553A;TCF4:NM_001243228:exon16:c.T1370C:p.V457A;TCF4:NM_001243233:exon12:c.T962C:p.V321A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.T1172C:p.V391A;ENSG00000196628:ENST00000561831:exon9:c.T872C:p.V291A;ENSG00000196628:ENST00000564999:exon16:c.T1352C:p.V451A;ENSG00000196628:ENST00000568740:exon15:c.T1277C:p.V426A;ENSG00000196628:ENST00000561992:exon12:c.T962C:p.V321A;ENSG00000196628:ENST00000565018:exon16:c.T1352C:p.V451A;ENSG00000196628:ENST00000354452:exon16:c.T1352C:p.V451A;ENSG00000196628:ENST00000566286:exon15:c.T1343C:p.V448A;ENSG00000196628:ENST00000356073:exon16:c.T1352C:p.V451A;ENSG00000196628:ENST00000543082:exon14:c.T1226C:p.V409A;ENSG00000196628:ENST00000570287:exon9:c.T872C:p.V291A;ENSG00000196628:ENST00000544241:exon12:c.T1139C:p.V380A;ENSG00000196628:ENST00000537578:exon15:c.T1280C:p.V427A;ENSG00000196628:ENST00000564403:exon16:c.T1370C:p.V457A;ENSG00000196628:ENST00000570177:exon11:c.T962C:p.V321A;ENSG00000196628:ENST00000457482:exon9:c.T872C:p.V291A;ENSG00000196628:ENST00000568673:exon15:c.T1280C:p.V427A;ENSG00000196628:ENST00000540999:exon15:c.T1280C:p.V427A;ENSG00000196628:ENST00000537856:exon11:c.T962C:p.V321A;ENSG00000196628:ENST00000398339:exon17:c.T1658C:p.V553A;ENSG00000196628:ENST00000564228:exon12:c.T1139C:p.V380A;ENSG00000196628:ENST00000567880:exon13:c.T1172C:p.V391A;	0.416946280478043	0.42
18	52901913	A	T	18	55234682	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.T872A:p.V291E;TCF4:NM_001243235:exon9:c.T872A:p.V291E;TCF4:NM_001243231:exon14:c.T1226A:p.V409E;TCF4:NM_003199:exon16:c.T1352A:p.V451E;TCF4:NM_001243230:exon15:c.T1343A:p.V448E;TCF4:NM_001243232:exon12:c.T1139A:p.V380E;TCF4:NM_001083962:exon16:c.T1352A:p.V451E;TCF4:NM_001243227:exon15:c.T1280A:p.V427E;TCF4:NM_001243234:exon9:c.T872A:p.V291E;TCF4:NM_001243226:exon17:c.T1658A:p.V553E;TCF4:NM_001243228:exon16:c.T1370A:p.V457E;TCF4:NM_001243233:exon12:c.T962A:p.V321E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.T1172A:p.V391E;ENSG00000196628:ENST00000561831:exon9:c.T872A:p.V291E;ENSG00000196628:ENST00000564999:exon16:c.T1352A:p.V451E;ENSG00000196628:ENST00000568740:exon15:c.T1277A:p.V426E;ENSG00000196628:ENST00000561992:exon12:c.T962A:p.V321E;ENSG00000196628:ENST00000565018:exon16:c.T1352A:p.V451E;ENSG00000196628:ENST00000354452:exon16:c.T1352A:p.V451E;ENSG00000196628:ENST00000566286:exon15:c.T1343A:p.V448E;ENSG00000196628:ENST00000356073:exon16:c.T1352A:p.V451E;ENSG00000196628:ENST00000543082:exon14:c.T1226A:p.V409E;ENSG00000196628:ENST00000570287:exon9:c.T872A:p.V291E;ENSG00000196628:ENST00000544241:exon12:c.T1139A:p.V380E;ENSG00000196628:ENST00000537578:exon15:c.T1280A:p.V427E;ENSG00000196628:ENST00000564403:exon16:c.T1370A:p.V457E;ENSG00000196628:ENST00000570177:exon11:c.T962A:p.V321E;ENSG00000196628:ENST00000457482:exon9:c.T872A:p.V291E;ENSG00000196628:ENST00000568673:exon15:c.T1280A:p.V427E;ENSG00000196628:ENST00000540999:exon15:c.T1280A:p.V427E;ENSG00000196628:ENST00000537856:exon11:c.T962A:p.V321E;ENSG00000196628:ENST00000398339:exon17:c.T1658A:p.V553E;ENSG00000196628:ENST00000564228:exon12:c.T1139A:p.V380E;ENSG00000196628:ENST00000567880:exon13:c.T1172A:p.V391E;	0.47445350320286	0.462
18	52901914	C	A	18	55234683	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G871T:p.V291L;TCF4:NM_001243235:exon9:c.G871T:p.V291L;TCF4:NM_001243231:exon14:c.G1225T:p.V409L;TCF4:NM_003199:exon16:c.G1351T:p.V451L;TCF4:NM_001243230:exon15:c.G1342T:p.V448L;TCF4:NM_001243232:exon12:c.G1138T:p.V380L;TCF4:NM_001083962:exon16:c.G1351T:p.V451L;TCF4:NM_001243227:exon15:c.G1279T:p.V427L;TCF4:NM_001243234:exon9:c.G871T:p.V291L;TCF4:NM_001243226:exon17:c.G1657T:p.V553L;TCF4:NM_001243228:exon16:c.G1369T:p.V457L;TCF4:NM_001243233:exon12:c.G961T:p.V321L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1171T:p.V391L;ENSG00000196628:ENST00000561831:exon9:c.G871T:p.V291L;ENSG00000196628:ENST00000564999:exon16:c.G1351T:p.V451L;ENSG00000196628:ENST00000568740:exon15:c.G1276T:p.V426L;ENSG00000196628:ENST00000561992:exon12:c.G961T:p.V321L;ENSG00000196628:ENST00000565018:exon16:c.G1351T:p.V451L;ENSG00000196628:ENST00000354452:exon16:c.G1351T:p.V451L;ENSG00000196628:ENST00000566286:exon15:c.G1342T:p.V448L;ENSG00000196628:ENST00000356073:exon16:c.G1351T:p.V451L;ENSG00000196628:ENST00000543082:exon14:c.G1225T:p.V409L;ENSG00000196628:ENST00000570287:exon9:c.G871T:p.V291L;ENSG00000196628:ENST00000544241:exon12:c.G1138T:p.V380L;ENSG00000196628:ENST00000537578:exon15:c.G1279T:p.V427L;ENSG00000196628:ENST00000564403:exon16:c.G1369T:p.V457L;ENSG00000196628:ENST00000570177:exon11:c.G961T:p.V321L;ENSG00000196628:ENST00000457482:exon9:c.G871T:p.V291L;ENSG00000196628:ENST00000568673:exon15:c.G1279T:p.V427L;ENSG00000196628:ENST00000540999:exon15:c.G1279T:p.V427L;ENSG00000196628:ENST00000537856:exon11:c.G961T:p.V321L;ENSG00000196628:ENST00000398339:exon17:c.G1657T:p.V553L;ENSG00000196628:ENST00000564228:exon12:c.G1138T:p.V380L;ENSG00000196628:ENST00000567880:exon13:c.G1171T:p.V391L;	0.999177307948777	0.978
18	52901914	C	G	18	55234683	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G871C:p.V291L;TCF4:NM_001243235:exon9:c.G871C:p.V291L;TCF4:NM_001243231:exon14:c.G1225C:p.V409L;TCF4:NM_003199:exon16:c.G1351C:p.V451L;TCF4:NM_001243230:exon15:c.G1342C:p.V448L;TCF4:NM_001243232:exon12:c.G1138C:p.V380L;TCF4:NM_001083962:exon16:c.G1351C:p.V451L;TCF4:NM_001243227:exon15:c.G1279C:p.V427L;TCF4:NM_001243234:exon9:c.G871C:p.V291L;TCF4:NM_001243226:exon17:c.G1657C:p.V553L;TCF4:NM_001243228:exon16:c.G1369C:p.V457L;TCF4:NM_001243233:exon12:c.G961C:p.V321L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1171C:p.V391L;ENSG00000196628:ENST00000561831:exon9:c.G871C:p.V291L;ENSG00000196628:ENST00000564999:exon16:c.G1351C:p.V451L;ENSG00000196628:ENST00000568740:exon15:c.G1276C:p.V426L;ENSG00000196628:ENST00000561992:exon12:c.G961C:p.V321L;ENSG00000196628:ENST00000565018:exon16:c.G1351C:p.V451L;ENSG00000196628:ENST00000354452:exon16:c.G1351C:p.V451L;ENSG00000196628:ENST00000566286:exon15:c.G1342C:p.V448L;ENSG00000196628:ENST00000356073:exon16:c.G1351C:p.V451L;ENSG00000196628:ENST00000543082:exon14:c.G1225C:p.V409L;ENSG00000196628:ENST00000570287:exon9:c.G871C:p.V291L;ENSG00000196628:ENST00000544241:exon12:c.G1138C:p.V380L;ENSG00000196628:ENST00000537578:exon15:c.G1279C:p.V427L;ENSG00000196628:ENST00000564403:exon16:c.G1369C:p.V457L;ENSG00000196628:ENST00000570177:exon11:c.G961C:p.V321L;ENSG00000196628:ENST00000457482:exon9:c.G871C:p.V291L;ENSG00000196628:ENST00000568673:exon15:c.G1279C:p.V427L;ENSG00000196628:ENST00000540999:exon15:c.G1279C:p.V427L;ENSG00000196628:ENST00000537856:exon11:c.G961C:p.V321L;ENSG00000196628:ENST00000398339:exon17:c.G1657C:p.V553L;ENSG00000196628:ENST00000564228:exon12:c.G1138C:p.V380L;ENSG00000196628:ENST00000567880:exon13:c.G1171C:p.V391L;	0.999507861956597	0.958
18	52901914	C	T	18	55234683	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon9:c.G871A:p.V291M;TCF4:NM_001243235:exon9:c.G871A:p.V291M;TCF4:NM_001243231:exon14:c.G1225A:p.V409M;TCF4:NM_003199:exon16:c.G1351A:p.V451M;TCF4:NM_001243230:exon15:c.G1342A:p.V448M;TCF4:NM_001243232:exon12:c.G1138A:p.V380M;TCF4:NM_001083962:exon16:c.G1351A:p.V451M;TCF4:NM_001243227:exon15:c.G1279A:p.V427M;TCF4:NM_001243234:exon9:c.G871A:p.V291M;TCF4:NM_001243226:exon17:c.G1657A:p.V553M;TCF4:NM_001243228:exon16:c.G1369A:p.V457M;TCF4:NM_001243233:exon12:c.G961A:p.V321M;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon14:c.G1171A:p.V391M;ENSG00000196628:ENST00000561831:exon9:c.G871A:p.V291M;ENSG00000196628:ENST00000564999:exon16:c.G1351A:p.V451M;ENSG00000196628:ENST00000568740:exon15:c.G1276A:p.V426M;ENSG00000196628:ENST00000561992:exon12:c.G961A:p.V321M;ENSG00000196628:ENST00000565018:exon16:c.G1351A:p.V451M;ENSG00000196628:ENST00000354452:exon16:c.G1351A:p.V451M;ENSG00000196628:ENST00000566286:exon15:c.G1342A:p.V448M;ENSG00000196628:ENST00000356073:exon16:c.G1351A:p.V451M;ENSG00000196628:ENST00000543082:exon14:c.G1225A:p.V409M;ENSG00000196628:ENST00000570287:exon9:c.G871A:p.V291M;ENSG00000196628:ENST00000544241:exon12:c.G1138A:p.V380M;ENSG00000196628:ENST00000537578:exon15:c.G1279A:p.V427M;ENSG00000196628:ENST00000564403:exon16:c.G1369A:p.V457M;ENSG00000196628:ENST00000570177:exon11:c.G961A:p.V321M;ENSG00000196628:ENST00000457482:exon9:c.G871A:p.V291M;ENSG00000196628:ENST00000568673:exon15:c.G1279A:p.V427M;ENSG00000196628:ENST00000540999:exon15:c.G1279A:p.V427M;ENSG00000196628:ENST00000537856:exon11:c.G961A:p.V321M;ENSG00000196628:ENST00000398339:exon17:c.G1657A:p.V553M;ENSG00000196628:ENST00000564228:exon12:c.G1138A:p.V380M;ENSG00000196628:ENST00000567880:exon13:c.G1171A:p.V391M;	0.998671616363288	0.834
18	52901915	C	A	18	55234684	y	y	splicing	TCF4(NM_001243226:exon18:c.1657-1G>T;NM_001243230:exon16:c.1342-1G>T;NM_001243234:exon10:c.871-1G>T;NM_001243232:exon13:c.1138-1G>T;NM_001243236:exon10:c.871-1G>T;NM_001083962:exon17:c.1351-1G>T;NM_003199:exon17:c.1351-1G>T;NM_001243235:exon10:c.871-1G>T;NM_001243233:exon13:c.961-1G>T;NM_001243231:exon15:c.1225-1G>T;NM_001243228:exon17:c.1369-1G>T;NM_001243227:exon16:c.1279-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1351-1G>T;ENST00000356073:exon17:c.1351-1G>T;ENST00000568673:exon16:c.1279-1G>T;ENST00000543082:exon15:c.1225-1G>T;ENST00000457482:exon10:c.871-1G>T;ENST00000540999:exon16:c.1279-1G>T;ENST00000537578:exon16:c.1279-1G>T;ENST00000564999:exon17:c.1351-1G>T;ENST00000568740:exon16:c.1276-1G>T;ENST00000537856:exon12:c.961-1G>T;ENST00000544241:exon13:c.1138-1G>T;ENST00000561992:exon13:c.961-1G>T;ENST00000561831:exon10:c.871-1G>T;ENST00000565018:exon17:c.1351-1G>T;ENST00000566279:exon15:c.1171-1G>T;ENST00000566286:exon16:c.1342-1G>T;ENST00000567880:exon14:c.1171-1G>T;ENST00000564228:exon13:c.1138-1G>T;ENST00000570287:exon10:c.871-1G>T;ENST00000398339:exon18:c.1657-1G>T;ENST00000564403:exon17:c.1369-1G>T;ENST00000570177:exon12:c.961-1G>T)	.	.	0.999989072007339	0.934
18	52901915	C	G	18	55234684	y	y	splicing	TCF4(NM_001243226:exon18:c.1657-1G>C;NM_001243230:exon16:c.1342-1G>C;NM_001243234:exon10:c.871-1G>C;NM_001243232:exon13:c.1138-1G>C;NM_001243236:exon10:c.871-1G>C;NM_001083962:exon17:c.1351-1G>C;NM_003199:exon17:c.1351-1G>C;NM_001243235:exon10:c.871-1G>C;NM_001243233:exon13:c.961-1G>C;NM_001243231:exon15:c.1225-1G>C;NM_001243228:exon17:c.1369-1G>C;NM_001243227:exon16:c.1279-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1351-1G>C;ENST00000356073:exon17:c.1351-1G>C;ENST00000568673:exon16:c.1279-1G>C;ENST00000543082:exon15:c.1225-1G>C;ENST00000457482:exon10:c.871-1G>C;ENST00000540999:exon16:c.1279-1G>C;ENST00000537578:exon16:c.1279-1G>C;ENST00000564999:exon17:c.1351-1G>C;ENST00000568740:exon16:c.1276-1G>C;ENST00000537856:exon12:c.961-1G>C;ENST00000544241:exon13:c.1138-1G>C;ENST00000561992:exon13:c.961-1G>C;ENST00000561831:exon10:c.871-1G>C;ENST00000565018:exon17:c.1351-1G>C;ENST00000566279:exon15:c.1171-1G>C;ENST00000566286:exon16:c.1342-1G>C;ENST00000567880:exon14:c.1171-1G>C;ENST00000564228:exon13:c.1138-1G>C;ENST00000570287:exon10:c.871-1G>C;ENST00000398339:exon18:c.1657-1G>C;ENST00000564403:exon17:c.1369-1G>C;ENST00000570177:exon12:c.961-1G>C)	.	.	0.999989072007339	0.932
18	52901915	C	T	18	55234684	y	y	splicing	TCF4(NM_001243226:exon18:c.1657-1G>A;NM_001243230:exon16:c.1342-1G>A;NM_001243234:exon10:c.871-1G>A;NM_001243232:exon13:c.1138-1G>A;NM_001243236:exon10:c.871-1G>A;NM_001083962:exon17:c.1351-1G>A;NM_003199:exon17:c.1351-1G>A;NM_001243235:exon10:c.871-1G>A;NM_001243233:exon13:c.961-1G>A;NM_001243231:exon15:c.1225-1G>A;NM_001243228:exon17:c.1369-1G>A;NM_001243227:exon16:c.1279-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1351-1G>A;ENST00000356073:exon17:c.1351-1G>A;ENST00000568673:exon16:c.1279-1G>A;ENST00000543082:exon15:c.1225-1G>A;ENST00000457482:exon10:c.871-1G>A;ENST00000540999:exon16:c.1279-1G>A;ENST00000537578:exon16:c.1279-1G>A;ENST00000564999:exon17:c.1351-1G>A;ENST00000568740:exon16:c.1276-1G>A;ENST00000537856:exon12:c.961-1G>A;ENST00000544241:exon13:c.1138-1G>A;ENST00000561992:exon13:c.961-1G>A;ENST00000561831:exon10:c.871-1G>A;ENST00000565018:exon17:c.1351-1G>A;ENST00000566279:exon15:c.1171-1G>A;ENST00000566286:exon16:c.1342-1G>A;ENST00000567880:exon14:c.1171-1G>A;ENST00000564228:exon13:c.1138-1G>A;ENST00000570287:exon10:c.871-1G>A;ENST00000398339:exon18:c.1657-1G>A;ENST00000564403:exon17:c.1369-1G>A;ENST00000570177:exon12:c.961-1G>A)	.	.	0.999989072007339	0.934
18	52901916	T	A	18	55234685	y	y	splicing	TCF4(NM_001243226:exon18:c.1657-2A>T;NM_001243230:exon16:c.1342-2A>T;NM_001243234:exon10:c.871-2A>T;NM_001243232:exon13:c.1138-2A>T;NM_001243236:exon10:c.871-2A>T;NM_001083962:exon17:c.1351-2A>T;NM_003199:exon17:c.1351-2A>T;NM_001243235:exon10:c.871-2A>T;NM_001243233:exon13:c.961-2A>T;NM_001243231:exon15:c.1225-2A>T;NM_001243228:exon17:c.1369-2A>T;NM_001243227:exon16:c.1279-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1351-2A>T;ENST00000356073:exon17:c.1351-2A>T;ENST00000568673:exon16:c.1279-2A>T;ENST00000543082:exon15:c.1225-2A>T;ENST00000457482:exon10:c.871-2A>T;ENST00000540999:exon16:c.1279-2A>T;ENST00000537578:exon16:c.1279-2A>T;ENST00000564999:exon17:c.1351-2A>T;ENST00000568740:exon16:c.1276-2A>T;ENST00000537856:exon12:c.961-2A>T;ENST00000544241:exon13:c.1138-2A>T;ENST00000561992:exon13:c.961-2A>T;ENST00000561831:exon10:c.871-2A>T;ENST00000565018:exon17:c.1351-2A>T;ENST00000566279:exon15:c.1171-2A>T;ENST00000566286:exon16:c.1342-2A>T;ENST00000567880:exon14:c.1171-2A>T;ENST00000564228:exon13:c.1138-2A>T;ENST00000570287:exon10:c.871-2A>T;ENST00000398339:exon18:c.1657-2A>T;ENST00000564403:exon17:c.1369-2A>T;ENST00000570177:exon12:c.961-2A>T)	.	.	0.999988247793601	0.93
18	52901916	T	C	18	55234685	y	y	splicing	TCF4(NM_001243226:exon18:c.1657-2A>G;NM_001243230:exon16:c.1342-2A>G;NM_001243234:exon10:c.871-2A>G;NM_001243232:exon13:c.1138-2A>G;NM_001243236:exon10:c.871-2A>G;NM_001083962:exon17:c.1351-2A>G;NM_003199:exon17:c.1351-2A>G;NM_001243235:exon10:c.871-2A>G;NM_001243233:exon13:c.961-2A>G;NM_001243231:exon15:c.1225-2A>G;NM_001243228:exon17:c.1369-2A>G;NM_001243227:exon16:c.1279-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1351-2A>G;ENST00000356073:exon17:c.1351-2A>G;ENST00000568673:exon16:c.1279-2A>G;ENST00000543082:exon15:c.1225-2A>G;ENST00000457482:exon10:c.871-2A>G;ENST00000540999:exon16:c.1279-2A>G;ENST00000537578:exon16:c.1279-2A>G;ENST00000564999:exon17:c.1351-2A>G;ENST00000568740:exon16:c.1276-2A>G;ENST00000537856:exon12:c.961-2A>G;ENST00000544241:exon13:c.1138-2A>G;ENST00000561992:exon13:c.961-2A>G;ENST00000561831:exon10:c.871-2A>G;ENST00000565018:exon17:c.1351-2A>G;ENST00000566279:exon15:c.1171-2A>G;ENST00000566286:exon16:c.1342-2A>G;ENST00000567880:exon14:c.1171-2A>G;ENST00000564228:exon13:c.1138-2A>G;ENST00000570287:exon10:c.871-2A>G;ENST00000398339:exon18:c.1657-2A>G;ENST00000564403:exon17:c.1369-2A>G;ENST00000570177:exon12:c.961-2A>G)	.	.	0.999988247793601	0.93
18	52901916	T	G	18	55234685	y	y	splicing	TCF4(NM_001243226:exon18:c.1657-2A>C;NM_001243230:exon16:c.1342-2A>C;NM_001243234:exon10:c.871-2A>C;NM_001243232:exon13:c.1138-2A>C;NM_001243236:exon10:c.871-2A>C;NM_001083962:exon17:c.1351-2A>C;NM_003199:exon17:c.1351-2A>C;NM_001243235:exon10:c.871-2A>C;NM_001243233:exon13:c.961-2A>C;NM_001243231:exon15:c.1225-2A>C;NM_001243228:exon17:c.1369-2A>C;NM_001243227:exon16:c.1279-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon17:c.1351-2A>C;ENST00000356073:exon17:c.1351-2A>C;ENST00000568673:exon16:c.1279-2A>C;ENST00000543082:exon15:c.1225-2A>C;ENST00000457482:exon10:c.871-2A>C;ENST00000540999:exon16:c.1279-2A>C;ENST00000537578:exon16:c.1279-2A>C;ENST00000564999:exon17:c.1351-2A>C;ENST00000568740:exon16:c.1276-2A>C;ENST00000537856:exon12:c.961-2A>C;ENST00000544241:exon13:c.1138-2A>C;ENST00000561992:exon13:c.961-2A>C;ENST00000561831:exon10:c.871-2A>C;ENST00000565018:exon17:c.1351-2A>C;ENST00000566279:exon15:c.1171-2A>C;ENST00000566286:exon16:c.1342-2A>C;ENST00000567880:exon14:c.1171-2A>C;ENST00000564228:exon13:c.1138-2A>C;ENST00000570287:exon10:c.871-2A>C;ENST00000398339:exon18:c.1657-2A>C;ENST00000564403:exon17:c.1369-2A>C;ENST00000570177:exon12:c.961-2A>C)	.	.	0.999988247793601	0.93
18	52901917	G	A	18	55234686	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0227318987624171	0.144
18	52901917	G	C	18	55234686	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99959335298131	0.96
18	52901917	G	T	18	55234686	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.977289065341759	0.502
18	52901918	A	C	18	55234687	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.81474896170976E-5	0.0
18	52901918	A	G	18	55234687	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.55646805974821E-5	0.0
18	52901918	A	T	18	55234687	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.61270542774358E-5	0.0
18	52901919	A	C	18	55234688	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0176878773209411	0.236
18	52901919	A	G	18	55234688	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.57495134397344E-4	0.07
18	52901919	A	T	18	55234688	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0224722464017485	0.304
18	52901920	A	C	18	55234689	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0077898604508714	0.088
18	52901920	A	G	18	55234689	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.19916903577324E-4	0.0
18	52901920	A	T	18	55234689	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00266122831245623	0.108
18	52901921	G	A	18	55234690	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.19912364274575E-4	0.004
18	52901921	G	C	18	55234690	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.78015033487964E-4	0.03
18	52901921	G	T	18	55234690	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00141646078460714	0.088
18	52901922	G	A	18	55234691	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.63176526441344E-5	0.002
18	52901922	G	C	18	55234691	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.95546750613837E-5	0.044
18	52901922	G	T	18	55234691	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.00706978476333E-4	0.058
18	52901923	G	A	18	55234692	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.92021933220661E-5	0.006
18	52901923	G	C	18	55234692	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.06234512289843E-4	0.04
18	52901923	G	T	18	55234692	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00139603599609893	0.114
18	52901924	C	A	18	55234693	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.34184647009742E-5	0.0
18	52901924	C	G	18	55234693	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.82977769921795E-6	0.0
18	52901924	C	T	18	55234693	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.3764087698077E-4	0.0
18	52901925	G	A	18	55234694	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.50714567537486E-5	0.0
18	52901925	G	C	18	55234694	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.90318713750557E-4	0.056
18	52901925	G	T	18	55234694	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999385201967869	0.962
18	52901926	A	C	18	55234695	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.274552551355922	0.468
18	52901926	A	G	18	55234695	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00459608761619099	0.1
18	52901926	A	T	18	55234695	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.277072192511207	0.452
18	52921720	T	A	18	55254489	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.30477579161392E-5	0.0
18	52921720	T	C	18	55254489	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.73659410988803E-5	0.0
18	52921720	T	G	18	55254489	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.30477579161392E-5	0.002
18	52921721	C	A	18	55254490	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.09969520944631E-5	0.008
18	52921721	C	G	18	55254490	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.13789331909084E-5	0.01
18	52921721	C	T	18	55254490	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.13789331909084E-5	0.008
18	52921722	A	C	18	55254491	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00194147425775481	0.262
18	52921722	A	G	18	55254491	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0134688250345354	0.338
18	52921722	A	T	18	55254491	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00926288351228681	0.302
18	52921723	C	A	18	55254492	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996361213718357	0.876
18	52921723	C	G	18	55254492	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.993155791172621	0.89
18	52921723	C	T	18	55254492	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999615890009985	0.902
18	52921724	T	A	18	55254493	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.808437582075947	0.606
18	52921724	T	C	18	55254493	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.936357312254556	0.606
18	52921724	T	G	18	55254493	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.887322317745911	0.602
18	52921725	T	A	18	55254494	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.95010528007776	0.722
18	52921725	T	C	18	55254494	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0570966849085251	0.234
18	52921725	T	G	18	55254494	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.995978371164561	0.866
18	52921726	A	C	18	55254495	y	y	splicing	TCF4(NM_001243226:exon17:c.1656+2T>G;NM_001243230:exon15:c.1341+2T>G;NM_001243234:exon9:c.870+2T>G;NM_001243232:exon12:c.1137+2T>G;NM_001243236:exon9:c.870+2T>G;NM_001083962:exon16:c.1350+2T>G;NM_003199:exon16:c.1350+2T>G;NM_001243235:exon9:c.870+2T>G;NM_001243233:exon12:c.960+2T>G;NM_001243231:exon14:c.1224+2T>G;NM_001243228:exon16:c.1368+2T>G;NM_001243227:exon15:c.1278+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1350+2T>G;ENST00000356073:exon16:c.1350+2T>G;ENST00000568673:exon15:c.1278+2T>G;ENST00000543082:exon14:c.1224+2T>G;ENST00000457482:exon9:c.870+2T>G;ENST00000540999:exon15:c.1278+2T>G;ENST00000537578:exon15:c.1278+2T>G;ENST00000564999:exon16:c.1350+2T>G;ENST00000568740:exon15:c.1275+2T>G;ENST00000537856:exon11:c.960+2T>G;ENST00000544241:exon12:c.1137+2T>G;ENST00000561992:exon12:c.960+2T>G;ENST00000561831:exon9:c.870+2T>G;ENST00000565018:exon16:c.1350+2T>G;ENST00000566279:exon14:c.1170+2T>G;ENST00000566286:exon15:c.1341+2T>G;ENST00000567880:exon13:c.1170+2T>G;ENST00000564228:exon12:c.1137+2T>G;ENST00000570287:exon9:c.870+2T>G;ENST00000398339:exon17:c.1656+2T>G;ENST00000564403:exon16:c.1368+2T>G;ENST00000570177:exon11:c.960+2T>G)	.	.	0.999988247793601	0.928
18	52921726	A	G	18	55254495	y	y	splicing	TCF4(NM_001243226:exon17:c.1656+2T>C;NM_001243230:exon15:c.1341+2T>C;NM_001243234:exon9:c.870+2T>C;NM_001243232:exon12:c.1137+2T>C;NM_001243236:exon9:c.870+2T>C;NM_001083962:exon16:c.1350+2T>C;NM_003199:exon16:c.1350+2T>C;NM_001243235:exon9:c.870+2T>C;NM_001243233:exon12:c.960+2T>C;NM_001243231:exon14:c.1224+2T>C;NM_001243228:exon16:c.1368+2T>C;NM_001243227:exon15:c.1278+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1350+2T>C;ENST00000356073:exon16:c.1350+2T>C;ENST00000568673:exon15:c.1278+2T>C;ENST00000543082:exon14:c.1224+2T>C;ENST00000457482:exon9:c.870+2T>C;ENST00000540999:exon15:c.1278+2T>C;ENST00000537578:exon15:c.1278+2T>C;ENST00000564999:exon16:c.1350+2T>C;ENST00000568740:exon15:c.1275+2T>C;ENST00000537856:exon11:c.960+2T>C;ENST00000544241:exon12:c.1137+2T>C;ENST00000561992:exon12:c.960+2T>C;ENST00000561831:exon9:c.870+2T>C;ENST00000565018:exon16:c.1350+2T>C;ENST00000566279:exon14:c.1170+2T>C;ENST00000566286:exon15:c.1341+2T>C;ENST00000567880:exon13:c.1170+2T>C;ENST00000564228:exon12:c.1137+2T>C;ENST00000570287:exon9:c.870+2T>C;ENST00000398339:exon17:c.1656+2T>C;ENST00000564403:exon16:c.1368+2T>C;ENST00000570177:exon11:c.960+2T>C)	.	.	0.994669226766359	0.658
18	52921726	A	T	18	55254495	y	y	splicing	TCF4(NM_001243226:exon17:c.1656+2T>A;NM_001243230:exon15:c.1341+2T>A;NM_001243234:exon9:c.870+2T>A;NM_001243232:exon12:c.1137+2T>A;NM_001243236:exon9:c.870+2T>A;NM_001083962:exon16:c.1350+2T>A;NM_003199:exon16:c.1350+2T>A;NM_001243235:exon9:c.870+2T>A;NM_001243233:exon12:c.960+2T>A;NM_001243231:exon14:c.1224+2T>A;NM_001243228:exon16:c.1368+2T>A;NM_001243227:exon15:c.1278+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1350+2T>A;ENST00000356073:exon16:c.1350+2T>A;ENST00000568673:exon15:c.1278+2T>A;ENST00000543082:exon14:c.1224+2T>A;ENST00000457482:exon9:c.870+2T>A;ENST00000540999:exon15:c.1278+2T>A;ENST00000537578:exon15:c.1278+2T>A;ENST00000564999:exon16:c.1350+2T>A;ENST00000568740:exon15:c.1275+2T>A;ENST00000537856:exon11:c.960+2T>A;ENST00000544241:exon12:c.1137+2T>A;ENST00000561992:exon12:c.960+2T>A;ENST00000561831:exon9:c.870+2T>A;ENST00000565018:exon16:c.1350+2T>A;ENST00000566279:exon14:c.1170+2T>A;ENST00000566286:exon15:c.1341+2T>A;ENST00000567880:exon13:c.1170+2T>A;ENST00000564228:exon12:c.1137+2T>A;ENST00000570287:exon9:c.870+2T>A;ENST00000398339:exon17:c.1656+2T>A;ENST00000564403:exon16:c.1368+2T>A;ENST00000570177:exon11:c.960+2T>A)	.	.	0.999988247793601	0.928
18	52921727	C	A	18	55254496	y	y	splicing	TCF4(NM_001243226:exon17:c.1656+1G>T;NM_001243230:exon15:c.1341+1G>T;NM_001243234:exon9:c.870+1G>T;NM_001243232:exon12:c.1137+1G>T;NM_001243236:exon9:c.870+1G>T;NM_001083962:exon16:c.1350+1G>T;NM_003199:exon16:c.1350+1G>T;NM_001243235:exon9:c.870+1G>T;NM_001243233:exon12:c.960+1G>T;NM_001243231:exon14:c.1224+1G>T;NM_001243228:exon16:c.1368+1G>T;NM_001243227:exon15:c.1278+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1350+1G>T;ENST00000356073:exon16:c.1350+1G>T;ENST00000568673:exon15:c.1278+1G>T;ENST00000543082:exon14:c.1224+1G>T;ENST00000457482:exon9:c.870+1G>T;ENST00000540999:exon15:c.1278+1G>T;ENST00000537578:exon15:c.1278+1G>T;ENST00000564999:exon16:c.1350+1G>T;ENST00000568740:exon15:c.1275+1G>T;ENST00000537856:exon11:c.960+1G>T;ENST00000544241:exon12:c.1137+1G>T;ENST00000561992:exon12:c.960+1G>T;ENST00000561831:exon9:c.870+1G>T;ENST00000565018:exon16:c.1350+1G>T;ENST00000566279:exon14:c.1170+1G>T;ENST00000566286:exon15:c.1341+1G>T;ENST00000567880:exon13:c.1170+1G>T;ENST00000564228:exon12:c.1137+1G>T;ENST00000570287:exon9:c.870+1G>T;ENST00000398339:exon17:c.1656+1G>T;ENST00000564403:exon16:c.1368+1G>T;ENST00000570177:exon11:c.960+1G>T)	.	.	0.999986675681007	0.932
18	52921727	C	G	18	55254496	y	y	splicing	TCF4(NM_001243226:exon17:c.1656+1G>C;NM_001243230:exon15:c.1341+1G>C;NM_001243234:exon9:c.870+1G>C;NM_001243232:exon12:c.1137+1G>C;NM_001243236:exon9:c.870+1G>C;NM_001083962:exon16:c.1350+1G>C;NM_003199:exon16:c.1350+1G>C;NM_001243235:exon9:c.870+1G>C;NM_001243233:exon12:c.960+1G>C;NM_001243231:exon14:c.1224+1G>C;NM_001243228:exon16:c.1368+1G>C;NM_001243227:exon15:c.1278+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1350+1G>C;ENST00000356073:exon16:c.1350+1G>C;ENST00000568673:exon15:c.1278+1G>C;ENST00000543082:exon14:c.1224+1G>C;ENST00000457482:exon9:c.870+1G>C;ENST00000540999:exon15:c.1278+1G>C;ENST00000537578:exon15:c.1278+1G>C;ENST00000564999:exon16:c.1350+1G>C;ENST00000568740:exon15:c.1275+1G>C;ENST00000537856:exon11:c.960+1G>C;ENST00000544241:exon12:c.1137+1G>C;ENST00000561992:exon12:c.960+1G>C;ENST00000561831:exon9:c.870+1G>C;ENST00000565018:exon16:c.1350+1G>C;ENST00000566279:exon14:c.1170+1G>C;ENST00000566286:exon15:c.1341+1G>C;ENST00000567880:exon13:c.1170+1G>C;ENST00000564228:exon12:c.1137+1G>C;ENST00000570287:exon9:c.870+1G>C;ENST00000398339:exon17:c.1656+1G>C;ENST00000564403:exon16:c.1368+1G>C;ENST00000570177:exon11:c.960+1G>C)	.	.	0.999986675681007	0.932
18	52921727	C	T	18	55254496	y	y	splicing	TCF4(NM_001243226:exon17:c.1656+1G>A;NM_001243230:exon15:c.1341+1G>A;NM_001243234:exon9:c.870+1G>A;NM_001243232:exon12:c.1137+1G>A;NM_001243236:exon9:c.870+1G>A;NM_001083962:exon16:c.1350+1G>A;NM_003199:exon16:c.1350+1G>A;NM_001243235:exon9:c.870+1G>A;NM_001243233:exon12:c.960+1G>A;NM_001243231:exon14:c.1224+1G>A;NM_001243228:exon16:c.1368+1G>A;NM_001243227:exon15:c.1278+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1350+1G>A;ENST00000356073:exon16:c.1350+1G>A;ENST00000568673:exon15:c.1278+1G>A;ENST00000543082:exon14:c.1224+1G>A;ENST00000457482:exon9:c.870+1G>A;ENST00000540999:exon15:c.1278+1G>A;ENST00000537578:exon15:c.1278+1G>A;ENST00000564999:exon16:c.1350+1G>A;ENST00000568740:exon15:c.1275+1G>A;ENST00000537856:exon11:c.960+1G>A;ENST00000544241:exon12:c.1137+1G>A;ENST00000561992:exon12:c.960+1G>A;ENST00000561831:exon9:c.870+1G>A;ENST00000565018:exon16:c.1350+1G>A;ENST00000566279:exon14:c.1170+1G>A;ENST00000566286:exon15:c.1341+1G>A;ENST00000567880:exon13:c.1170+1G>A;ENST00000564228:exon12:c.1137+1G>A;ENST00000570287:exon9:c.870+1G>A;ENST00000398339:exon17:c.1656+1G>A;ENST00000564403:exon16:c.1368+1G>A;ENST00000570177:exon11:c.960+1G>A)	.	.	0.999986675681007	0.932
18	52921728	C	A	18	55254497	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.G870T:p.M290I;TCF4:NM_001243235:exon8:c.G870T:p.M290I;TCF4:NM_001243231:exon13:c.G1224T:p.M408I;TCF4:NM_003199:exon15:c.G1350T:p.M450I;TCF4:NM_001243230:exon14:c.G1341T:p.M447I;TCF4:NM_001243232:exon11:c.G1137T:p.M379I;TCF4:NM_001083962:exon15:c.G1350T:p.M450I;TCF4:NM_001243227:exon14:c.G1278T:p.M426I;TCF4:NM_001243234:exon8:c.G870T:p.M290I;TCF4:NM_001243226:exon16:c.G1656T:p.M552I;TCF4:NM_001243228:exon15:c.G1368T:p.M456I;TCF4:NM_001243233:exon11:c.G960T:p.M320I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.G1170T:p.M390I;ENSG00000196628:ENST00000561831:exon8:c.G870T:p.M290I;ENSG00000196628:ENST00000564999:exon15:c.G1350T:p.M450I;ENSG00000196628:ENST00000568740:exon14:c.G1275T:p.M425I;ENSG00000196628:ENST00000561992:exon11:c.G960T:p.M320I;ENSG00000196628:ENST00000565018:exon15:c.G1350T:p.M450I;ENSG00000196628:ENST00000354452:exon15:c.G1350T:p.M450I;ENSG00000196628:ENST00000566286:exon14:c.G1341T:p.M447I;ENSG00000196628:ENST00000356073:exon15:c.G1350T:p.M450I;ENSG00000196628:ENST00000543082:exon13:c.G1224T:p.M408I;ENSG00000196628:ENST00000570287:exon8:c.G870T:p.M290I;ENSG00000196628:ENST00000544241:exon11:c.G1137T:p.M379I;ENSG00000196628:ENST00000537578:exon14:c.G1278T:p.M426I;ENSG00000196628:ENST00000564403:exon15:c.G1368T:p.M456I;ENSG00000196628:ENST00000570177:exon10:c.G960T:p.M320I;ENSG00000196628:ENST00000457482:exon8:c.G870T:p.M290I;ENSG00000196628:ENST00000568673:exon14:c.G1278T:p.M426I;ENSG00000196628:ENST00000540999:exon14:c.G1278T:p.M426I;ENSG00000196628:ENST00000537856:exon10:c.G960T:p.M320I;ENSG00000196628:ENST00000398339:exon16:c.G1656T:p.M552I;ENSG00000196628:ENST00000564228:exon11:c.G1137T:p.M379I;ENSG00000196628:ENST00000567880:exon12:c.G1170T:p.M390I;	0.999667150926153	0.974
18	52921728	C	G	18	55254497	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.G870C:p.M290I;TCF4:NM_001243235:exon8:c.G870C:p.M290I;TCF4:NM_001243231:exon13:c.G1224C:p.M408I;TCF4:NM_003199:exon15:c.G1350C:p.M450I;TCF4:NM_001243230:exon14:c.G1341C:p.M447I;TCF4:NM_001243232:exon11:c.G1137C:p.M379I;TCF4:NM_001083962:exon15:c.G1350C:p.M450I;TCF4:NM_001243227:exon14:c.G1278C:p.M426I;TCF4:NM_001243234:exon8:c.G870C:p.M290I;TCF4:NM_001243226:exon16:c.G1656C:p.M552I;TCF4:NM_001243228:exon15:c.G1368C:p.M456I;TCF4:NM_001243233:exon11:c.G960C:p.M320I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.G1170C:p.M390I;ENSG00000196628:ENST00000561831:exon8:c.G870C:p.M290I;ENSG00000196628:ENST00000564999:exon15:c.G1350C:p.M450I;ENSG00000196628:ENST00000568740:exon14:c.G1275C:p.M425I;ENSG00000196628:ENST00000561992:exon11:c.G960C:p.M320I;ENSG00000196628:ENST00000565018:exon15:c.G1350C:p.M450I;ENSG00000196628:ENST00000354452:exon15:c.G1350C:p.M450I;ENSG00000196628:ENST00000566286:exon14:c.G1341C:p.M447I;ENSG00000196628:ENST00000356073:exon15:c.G1350C:p.M450I;ENSG00000196628:ENST00000543082:exon13:c.G1224C:p.M408I;ENSG00000196628:ENST00000570287:exon8:c.G870C:p.M290I;ENSG00000196628:ENST00000544241:exon11:c.G1137C:p.M379I;ENSG00000196628:ENST00000537578:exon14:c.G1278C:p.M426I;ENSG00000196628:ENST00000564403:exon15:c.G1368C:p.M456I;ENSG00000196628:ENST00000570177:exon10:c.G960C:p.M320I;ENSG00000196628:ENST00000457482:exon8:c.G870C:p.M290I;ENSG00000196628:ENST00000568673:exon14:c.G1278C:p.M426I;ENSG00000196628:ENST00000540999:exon14:c.G1278C:p.M426I;ENSG00000196628:ENST00000537856:exon10:c.G960C:p.M320I;ENSG00000196628:ENST00000398339:exon16:c.G1656C:p.M552I;ENSG00000196628:ENST00000564228:exon11:c.G1137C:p.M379I;ENSG00000196628:ENST00000567880:exon12:c.G1170C:p.M390I;	0.99989193619878	0.912
18	52921728	C	T	18	55254497	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.G870A:p.M290I;TCF4:NM_001243235:exon8:c.G870A:p.M290I;TCF4:NM_001243231:exon13:c.G1224A:p.M408I;TCF4:NM_003199:exon15:c.G1350A:p.M450I;TCF4:NM_001243230:exon14:c.G1341A:p.M447I;TCF4:NM_001243232:exon11:c.G1137A:p.M379I;TCF4:NM_001083962:exon15:c.G1350A:p.M450I;TCF4:NM_001243227:exon14:c.G1278A:p.M426I;TCF4:NM_001243234:exon8:c.G870A:p.M290I;TCF4:NM_001243226:exon16:c.G1656A:p.M552I;TCF4:NM_001243228:exon15:c.G1368A:p.M456I;TCF4:NM_001243233:exon11:c.G960A:p.M320I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.G1170A:p.M390I;ENSG00000196628:ENST00000561831:exon8:c.G870A:p.M290I;ENSG00000196628:ENST00000564999:exon15:c.G1350A:p.M450I;ENSG00000196628:ENST00000568740:exon14:c.G1275A:p.M425I;ENSG00000196628:ENST00000561992:exon11:c.G960A:p.M320I;ENSG00000196628:ENST00000565018:exon15:c.G1350A:p.M450I;ENSG00000196628:ENST00000354452:exon15:c.G1350A:p.M450I;ENSG00000196628:ENST00000566286:exon14:c.G1341A:p.M447I;ENSG00000196628:ENST00000356073:exon15:c.G1350A:p.M450I;ENSG00000196628:ENST00000543082:exon13:c.G1224A:p.M408I;ENSG00000196628:ENST00000570287:exon8:c.G870A:p.M290I;ENSG00000196628:ENST00000544241:exon11:c.G1137A:p.M379I;ENSG00000196628:ENST00000537578:exon14:c.G1278A:p.M426I;ENSG00000196628:ENST00000564403:exon15:c.G1368A:p.M456I;ENSG00000196628:ENST00000570177:exon10:c.G960A:p.M320I;ENSG00000196628:ENST00000457482:exon8:c.G870A:p.M290I;ENSG00000196628:ENST00000568673:exon14:c.G1278A:p.M426I;ENSG00000196628:ENST00000540999:exon14:c.G1278A:p.M426I;ENSG00000196628:ENST00000537856:exon10:c.G960A:p.M320I;ENSG00000196628:ENST00000398339:exon16:c.G1656A:p.M552I;ENSG00000196628:ENST00000564228:exon11:c.G1137A:p.M379I;ENSG00000196628:ENST00000567880:exon12:c.G1170A:p.M390I;	0.999846924233687	0.986
18	52921729	A	C	18	55254498	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.T869G:p.M290R;TCF4:NM_001243235:exon8:c.T869G:p.M290R;TCF4:NM_001243231:exon13:c.T1223G:p.M408R;TCF4:NM_003199:exon15:c.T1349G:p.M450R;TCF4:NM_001243230:exon14:c.T1340G:p.M447R;TCF4:NM_001243232:exon11:c.T1136G:p.M379R;TCF4:NM_001083962:exon15:c.T1349G:p.M450R;TCF4:NM_001243227:exon14:c.T1277G:p.M426R;TCF4:NM_001243234:exon8:c.T869G:p.M290R;TCF4:NM_001243226:exon16:c.T1655G:p.M552R;TCF4:NM_001243228:exon15:c.T1367G:p.M456R;TCF4:NM_001243233:exon11:c.T959G:p.M320R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.T1169G:p.M390R;ENSG00000196628:ENST00000561831:exon8:c.T869G:p.M290R;ENSG00000196628:ENST00000564999:exon15:c.T1349G:p.M450R;ENSG00000196628:ENST00000568740:exon14:c.T1274G:p.M425R;ENSG00000196628:ENST00000561992:exon11:c.T959G:p.M320R;ENSG00000196628:ENST00000565018:exon15:c.T1349G:p.M450R;ENSG00000196628:ENST00000354452:exon15:c.T1349G:p.M450R;ENSG00000196628:ENST00000566286:exon14:c.T1340G:p.M447R;ENSG00000196628:ENST00000356073:exon15:c.T1349G:p.M450R;ENSG00000196628:ENST00000543082:exon13:c.T1223G:p.M408R;ENSG00000196628:ENST00000570287:exon8:c.T869G:p.M290R;ENSG00000196628:ENST00000544241:exon11:c.T1136G:p.M379R;ENSG00000196628:ENST00000537578:exon14:c.T1277G:p.M426R;ENSG00000196628:ENST00000564403:exon15:c.T1367G:p.M456R;ENSG00000196628:ENST00000570177:exon10:c.T959G:p.M320R;ENSG00000196628:ENST00000457482:exon8:c.T869G:p.M290R;ENSG00000196628:ENST00000568673:exon14:c.T1277G:p.M426R;ENSG00000196628:ENST00000540999:exon14:c.T1277G:p.M426R;ENSG00000196628:ENST00000537856:exon10:c.T959G:p.M320R;ENSG00000196628:ENST00000398339:exon16:c.T1655G:p.M552R;ENSG00000196628:ENST00000564228:exon11:c.T1136G:p.M379R;ENSG00000196628:ENST00000567880:exon12:c.T1169G:p.M390R;	0.909237593567166	0.77
18	52921729	A	G	18	55254498	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.T869C:p.M290T;TCF4:NM_001243235:exon8:c.T869C:p.M290T;TCF4:NM_001243231:exon13:c.T1223C:p.M408T;TCF4:NM_003199:exon15:c.T1349C:p.M450T;TCF4:NM_001243230:exon14:c.T1340C:p.M447T;TCF4:NM_001243232:exon11:c.T1136C:p.M379T;TCF4:NM_001083962:exon15:c.T1349C:p.M450T;TCF4:NM_001243227:exon14:c.T1277C:p.M426T;TCF4:NM_001243234:exon8:c.T869C:p.M290T;TCF4:NM_001243226:exon16:c.T1655C:p.M552T;TCF4:NM_001243228:exon15:c.T1367C:p.M456T;TCF4:NM_001243233:exon11:c.T959C:p.M320T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.T1169C:p.M390T;ENSG00000196628:ENST00000561831:exon8:c.T869C:p.M290T;ENSG00000196628:ENST00000564999:exon15:c.T1349C:p.M450T;ENSG00000196628:ENST00000568740:exon14:c.T1274C:p.M425T;ENSG00000196628:ENST00000561992:exon11:c.T959C:p.M320T;ENSG00000196628:ENST00000565018:exon15:c.T1349C:p.M450T;ENSG00000196628:ENST00000354452:exon15:c.T1349C:p.M450T;ENSG00000196628:ENST00000566286:exon14:c.T1340C:p.M447T;ENSG00000196628:ENST00000356073:exon15:c.T1349C:p.M450T;ENSG00000196628:ENST00000543082:exon13:c.T1223C:p.M408T;ENSG00000196628:ENST00000570287:exon8:c.T869C:p.M290T;ENSG00000196628:ENST00000544241:exon11:c.T1136C:p.M379T;ENSG00000196628:ENST00000537578:exon14:c.T1277C:p.M426T;ENSG00000196628:ENST00000564403:exon15:c.T1367C:p.M456T;ENSG00000196628:ENST00000570177:exon10:c.T959C:p.M320T;ENSG00000196628:ENST00000457482:exon8:c.T869C:p.M290T;ENSG00000196628:ENST00000568673:exon14:c.T1277C:p.M426T;ENSG00000196628:ENST00000540999:exon14:c.T1277C:p.M426T;ENSG00000196628:ENST00000537856:exon10:c.T959C:p.M320T;ENSG00000196628:ENST00000398339:exon16:c.T1655C:p.M552T;ENSG00000196628:ENST00000564228:exon11:c.T1136C:p.M379T;ENSG00000196628:ENST00000567880:exon12:c.T1169C:p.M390T;	0.909425140389159	0.728
18	52921729	A	T	18	55254498	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.T869A:p.M290K;TCF4:NM_001243235:exon8:c.T869A:p.M290K;TCF4:NM_001243231:exon13:c.T1223A:p.M408K;TCF4:NM_003199:exon15:c.T1349A:p.M450K;TCF4:NM_001243230:exon14:c.T1340A:p.M447K;TCF4:NM_001243232:exon11:c.T1136A:p.M379K;TCF4:NM_001083962:exon15:c.T1349A:p.M450K;TCF4:NM_001243227:exon14:c.T1277A:p.M426K;TCF4:NM_001243234:exon8:c.T869A:p.M290K;TCF4:NM_001243226:exon16:c.T1655A:p.M552K;TCF4:NM_001243228:exon15:c.T1367A:p.M456K;TCF4:NM_001243233:exon11:c.T959A:p.M320K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.T1169A:p.M390K;ENSG00000196628:ENST00000561831:exon8:c.T869A:p.M290K;ENSG00000196628:ENST00000564999:exon15:c.T1349A:p.M450K;ENSG00000196628:ENST00000568740:exon14:c.T1274A:p.M425K;ENSG00000196628:ENST00000561992:exon11:c.T959A:p.M320K;ENSG00000196628:ENST00000565018:exon15:c.T1349A:p.M450K;ENSG00000196628:ENST00000354452:exon15:c.T1349A:p.M450K;ENSG00000196628:ENST00000566286:exon14:c.T1340A:p.M447K;ENSG00000196628:ENST00000356073:exon15:c.T1349A:p.M450K;ENSG00000196628:ENST00000543082:exon13:c.T1223A:p.M408K;ENSG00000196628:ENST00000570287:exon8:c.T869A:p.M290K;ENSG00000196628:ENST00000544241:exon11:c.T1136A:p.M379K;ENSG00000196628:ENST00000537578:exon14:c.T1277A:p.M426K;ENSG00000196628:ENST00000564403:exon15:c.T1367A:p.M456K;ENSG00000196628:ENST00000570177:exon10:c.T959A:p.M320K;ENSG00000196628:ENST00000457482:exon8:c.T869A:p.M290K;ENSG00000196628:ENST00000568673:exon14:c.T1277A:p.M426K;ENSG00000196628:ENST00000540999:exon14:c.T1277A:p.M426K;ENSG00000196628:ENST00000537856:exon10:c.T959A:p.M320K;ENSG00000196628:ENST00000398339:exon16:c.T1655A:p.M552K;ENSG00000196628:ENST00000564228:exon11:c.T1136A:p.M379K;ENSG00000196628:ENST00000567880:exon12:c.T1169A:p.M390K;	0.740929272664818	0.628
18	52921730	T	A	18	55254499	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.A868T:p.M290L;TCF4:NM_001243235:exon8:c.A868T:p.M290L;TCF4:NM_001243231:exon13:c.A1222T:p.M408L;TCF4:NM_003199:exon15:c.A1348T:p.M450L;TCF4:NM_001243230:exon14:c.A1339T:p.M447L;TCF4:NM_001243232:exon11:c.A1135T:p.M379L;TCF4:NM_001083962:exon15:c.A1348T:p.M450L;TCF4:NM_001243227:exon14:c.A1276T:p.M426L;TCF4:NM_001243234:exon8:c.A868T:p.M290L;TCF4:NM_001243226:exon16:c.A1654T:p.M552L;TCF4:NM_001243228:exon15:c.A1366T:p.M456L;TCF4:NM_001243233:exon11:c.A958T:p.M320L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.A1168T:p.M390L;ENSG00000196628:ENST00000561831:exon8:c.A868T:p.M290L;ENSG00000196628:ENST00000564999:exon15:c.A1348T:p.M450L;ENSG00000196628:ENST00000568740:exon14:c.A1273T:p.M425L;ENSG00000196628:ENST00000561992:exon11:c.A958T:p.M320L;ENSG00000196628:ENST00000565018:exon15:c.A1348T:p.M450L;ENSG00000196628:ENST00000354452:exon15:c.A1348T:p.M450L;ENSG00000196628:ENST00000566286:exon14:c.A1339T:p.M447L;ENSG00000196628:ENST00000356073:exon15:c.A1348T:p.M450L;ENSG00000196628:ENST00000543082:exon13:c.A1222T:p.M408L;ENSG00000196628:ENST00000570287:exon8:c.A868T:p.M290L;ENSG00000196628:ENST00000544241:exon11:c.A1135T:p.M379L;ENSG00000196628:ENST00000537578:exon14:c.A1276T:p.M426L;ENSG00000196628:ENST00000564403:exon15:c.A1366T:p.M456L;ENSG00000196628:ENST00000570177:exon10:c.A958T:p.M320L;ENSG00000196628:ENST00000457482:exon8:c.A868T:p.M290L;ENSG00000196628:ENST00000568673:exon14:c.A1276T:p.M426L;ENSG00000196628:ENST00000540999:exon14:c.A1276T:p.M426L;ENSG00000196628:ENST00000537856:exon10:c.A958T:p.M320L;ENSG00000196628:ENST00000398339:exon16:c.A1654T:p.M552L;ENSG00000196628:ENST00000564228:exon11:c.A1135T:p.M379L;ENSG00000196628:ENST00000567880:exon12:c.A1168T:p.M390L;	0.344162879079905	0.248
18	52921730	T	C	18	55254499	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.A868G:p.M290V;TCF4:NM_001243235:exon8:c.A868G:p.M290V;TCF4:NM_001243231:exon13:c.A1222G:p.M408V;TCF4:NM_003199:exon15:c.A1348G:p.M450V;TCF4:NM_001243230:exon14:c.A1339G:p.M447V;TCF4:NM_001243232:exon11:c.A1135G:p.M379V;TCF4:NM_001083962:exon15:c.A1348G:p.M450V;TCF4:NM_001243227:exon14:c.A1276G:p.M426V;TCF4:NM_001243234:exon8:c.A868G:p.M290V;TCF4:NM_001243226:exon16:c.A1654G:p.M552V;TCF4:NM_001243228:exon15:c.A1366G:p.M456V;TCF4:NM_001243233:exon11:c.A958G:p.M320V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.A1168G:p.M390V;ENSG00000196628:ENST00000561831:exon8:c.A868G:p.M290V;ENSG00000196628:ENST00000564999:exon15:c.A1348G:p.M450V;ENSG00000196628:ENST00000568740:exon14:c.A1273G:p.M425V;ENSG00000196628:ENST00000561992:exon11:c.A958G:p.M320V;ENSG00000196628:ENST00000565018:exon15:c.A1348G:p.M450V;ENSG00000196628:ENST00000354452:exon15:c.A1348G:p.M450V;ENSG00000196628:ENST00000566286:exon14:c.A1339G:p.M447V;ENSG00000196628:ENST00000356073:exon15:c.A1348G:p.M450V;ENSG00000196628:ENST00000543082:exon13:c.A1222G:p.M408V;ENSG00000196628:ENST00000570287:exon8:c.A868G:p.M290V;ENSG00000196628:ENST00000544241:exon11:c.A1135G:p.M379V;ENSG00000196628:ENST00000537578:exon14:c.A1276G:p.M426V;ENSG00000196628:ENST00000564403:exon15:c.A1366G:p.M456V;ENSG00000196628:ENST00000570177:exon10:c.A958G:p.M320V;ENSG00000196628:ENST00000457482:exon8:c.A868G:p.M290V;ENSG00000196628:ENST00000568673:exon14:c.A1276G:p.M426V;ENSG00000196628:ENST00000540999:exon14:c.A1276G:p.M426V;ENSG00000196628:ENST00000537856:exon10:c.A958G:p.M320V;ENSG00000196628:ENST00000398339:exon16:c.A1654G:p.M552V;ENSG00000196628:ENST00000564228:exon11:c.A1135G:p.M379V;ENSG00000196628:ENST00000567880:exon12:c.A1168G:p.M390V;	0.087783740080896	0.266
18	52921730	T	G	18	55254499	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.A868C:p.M290L;TCF4:NM_001243235:exon8:c.A868C:p.M290L;TCF4:NM_001243231:exon13:c.A1222C:p.M408L;TCF4:NM_003199:exon15:c.A1348C:p.M450L;TCF4:NM_001243230:exon14:c.A1339C:p.M447L;TCF4:NM_001243232:exon11:c.A1135C:p.M379L;TCF4:NM_001083962:exon15:c.A1348C:p.M450L;TCF4:NM_001243227:exon14:c.A1276C:p.M426L;TCF4:NM_001243234:exon8:c.A868C:p.M290L;TCF4:NM_001243226:exon16:c.A1654C:p.M552L;TCF4:NM_001243228:exon15:c.A1366C:p.M456L;TCF4:NM_001243233:exon11:c.A958C:p.M320L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.A1168C:p.M390L;ENSG00000196628:ENST00000561831:exon8:c.A868C:p.M290L;ENSG00000196628:ENST00000564999:exon15:c.A1348C:p.M450L;ENSG00000196628:ENST00000568740:exon14:c.A1273C:p.M425L;ENSG00000196628:ENST00000561992:exon11:c.A958C:p.M320L;ENSG00000196628:ENST00000565018:exon15:c.A1348C:p.M450L;ENSG00000196628:ENST00000354452:exon15:c.A1348C:p.M450L;ENSG00000196628:ENST00000566286:exon14:c.A1339C:p.M447L;ENSG00000196628:ENST00000356073:exon15:c.A1348C:p.M450L;ENSG00000196628:ENST00000543082:exon13:c.A1222C:p.M408L;ENSG00000196628:ENST00000570287:exon8:c.A868C:p.M290L;ENSG00000196628:ENST00000544241:exon11:c.A1135C:p.M379L;ENSG00000196628:ENST00000537578:exon14:c.A1276C:p.M426L;ENSG00000196628:ENST00000564403:exon15:c.A1366C:p.M456L;ENSG00000196628:ENST00000570177:exon10:c.A958C:p.M320L;ENSG00000196628:ENST00000457482:exon8:c.A868C:p.M290L;ENSG00000196628:ENST00000568673:exon14:c.A1276C:p.M426L;ENSG00000196628:ENST00000540999:exon14:c.A1276C:p.M426L;ENSG00000196628:ENST00000537856:exon10:c.A958C:p.M320L;ENSG00000196628:ENST00000398339:exon16:c.A1654C:p.M552L;ENSG00000196628:ENST00000564228:exon11:c.A1135C:p.M379L;ENSG00000196628:ENST00000567880:exon12:c.A1168C:p.M390L;	0.00423791151434693	0.02
18	52921930	T	A	18	55254699	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.A668T:p.Q223L;TCF4:NM_001243235:exon8:c.A668T:p.Q223L;TCF4:NM_001243231:exon13:c.A1022T:p.Q341L;TCF4:NM_003199:exon15:c.A1148T:p.Q383L;TCF4:NM_001243230:exon14:c.A1139T:p.Q380L;TCF4:NM_001243232:exon11:c.A935T:p.Q312L;TCF4:NM_001083962:exon15:c.A1148T:p.Q383L;TCF4:NM_001243227:exon14:c.A1076T:p.Q359L;TCF4:NM_001243234:exon8:c.A668T:p.Q223L;TCF4:NM_001243226:exon16:c.A1454T:p.Q485L;TCF4:NM_001243228:exon15:c.A1166T:p.Q389L;TCF4:NM_001243233:exon11:c.A758T:p.Q253L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.A968T:p.Q323L;ENSG00000196628:ENST00000561831:exon8:c.A668T:p.Q223L;ENSG00000196628:ENST00000564999:exon15:c.A1148T:p.Q383L;ENSG00000196628:ENST00000568740:exon14:c.A1073T:p.Q358L;ENSG00000196628:ENST00000561992:exon11:c.A758T:p.Q253L;ENSG00000196628:ENST00000565018:exon15:c.A1148T:p.Q383L;ENSG00000196628:ENST00000354452:exon15:c.A1148T:p.Q383L;ENSG00000196628:ENST00000566286:exon14:c.A1139T:p.Q380L;ENSG00000196628:ENST00000356073:exon15:c.A1148T:p.Q383L;ENSG00000196628:ENST00000543082:exon13:c.A1022T:p.Q341L;ENSG00000196628:ENST00000570287:exon8:c.A668T:p.Q223L;ENSG00000196628:ENST00000544241:exon11:c.A935T:p.Q312L;ENSG00000196628:ENST00000537578:exon14:c.A1076T:p.Q359L;ENSG00000196628:ENST00000564403:exon15:c.A1166T:p.Q389L;ENSG00000196628:ENST00000570177:exon10:c.A758T:p.Q253L;ENSG00000196628:ENST00000457482:exon8:c.A668T:p.Q223L;ENSG00000196628:ENST00000568673:exon14:c.A1076T:p.Q359L;ENSG00000196628:ENST00000540999:exon14:c.A1076T:p.Q359L;ENSG00000196628:ENST00000537856:exon10:c.A758T:p.Q253L;ENSG00000196628:ENST00000398339:exon16:c.A1454T:p.Q485L;ENSG00000196628:ENST00000564228:exon11:c.A935T:p.Q312L;ENSG00000196628:ENST00000567880:exon12:c.A968T:p.Q323L;	0.79717825111636	0.684
18	52921930	T	C	18	55254699	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.A668G:p.Q223R;TCF4:NM_001243235:exon8:c.A668G:p.Q223R;TCF4:NM_001243231:exon13:c.A1022G:p.Q341R;TCF4:NM_003199:exon15:c.A1148G:p.Q383R;TCF4:NM_001243230:exon14:c.A1139G:p.Q380R;TCF4:NM_001243232:exon11:c.A935G:p.Q312R;TCF4:NM_001083962:exon15:c.A1148G:p.Q383R;TCF4:NM_001243227:exon14:c.A1076G:p.Q359R;TCF4:NM_001243234:exon8:c.A668G:p.Q223R;TCF4:NM_001243226:exon16:c.A1454G:p.Q485R;TCF4:NM_001243228:exon15:c.A1166G:p.Q389R;TCF4:NM_001243233:exon11:c.A758G:p.Q253R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.A968G:p.Q323R;ENSG00000196628:ENST00000561831:exon8:c.A668G:p.Q223R;ENSG00000196628:ENST00000564999:exon15:c.A1148G:p.Q383R;ENSG00000196628:ENST00000568740:exon14:c.A1073G:p.Q358R;ENSG00000196628:ENST00000561992:exon11:c.A758G:p.Q253R;ENSG00000196628:ENST00000565018:exon15:c.A1148G:p.Q383R;ENSG00000196628:ENST00000354452:exon15:c.A1148G:p.Q383R;ENSG00000196628:ENST00000566286:exon14:c.A1139G:p.Q380R;ENSG00000196628:ENST00000356073:exon15:c.A1148G:p.Q383R;ENSG00000196628:ENST00000543082:exon13:c.A1022G:p.Q341R;ENSG00000196628:ENST00000570287:exon8:c.A668G:p.Q223R;ENSG00000196628:ENST00000544241:exon11:c.A935G:p.Q312R;ENSG00000196628:ENST00000537578:exon14:c.A1076G:p.Q359R;ENSG00000196628:ENST00000564403:exon15:c.A1166G:p.Q389R;ENSG00000196628:ENST00000570177:exon10:c.A758G:p.Q253R;ENSG00000196628:ENST00000457482:exon8:c.A668G:p.Q223R;ENSG00000196628:ENST00000568673:exon14:c.A1076G:p.Q359R;ENSG00000196628:ENST00000540999:exon14:c.A1076G:p.Q359R;ENSG00000196628:ENST00000537856:exon10:c.A758G:p.Q253R;ENSG00000196628:ENST00000398339:exon16:c.A1454G:p.Q485R;ENSG00000196628:ENST00000564228:exon11:c.A935G:p.Q312R;ENSG00000196628:ENST00000567880:exon12:c.A968G:p.Q323R;	0.790399930248485	0.586
18	52921930	T	G	18	55254699	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.A668C:p.Q223P;TCF4:NM_001243235:exon8:c.A668C:p.Q223P;TCF4:NM_001243231:exon13:c.A1022C:p.Q341P;TCF4:NM_003199:exon15:c.A1148C:p.Q383P;TCF4:NM_001243230:exon14:c.A1139C:p.Q380P;TCF4:NM_001243232:exon11:c.A935C:p.Q312P;TCF4:NM_001083962:exon15:c.A1148C:p.Q383P;TCF4:NM_001243227:exon14:c.A1076C:p.Q359P;TCF4:NM_001243234:exon8:c.A668C:p.Q223P;TCF4:NM_001243226:exon16:c.A1454C:p.Q485P;TCF4:NM_001243228:exon15:c.A1166C:p.Q389P;TCF4:NM_001243233:exon11:c.A758C:p.Q253P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.A968C:p.Q323P;ENSG00000196628:ENST00000561831:exon8:c.A668C:p.Q223P;ENSG00000196628:ENST00000564999:exon15:c.A1148C:p.Q383P;ENSG00000196628:ENST00000568740:exon14:c.A1073C:p.Q358P;ENSG00000196628:ENST00000561992:exon11:c.A758C:p.Q253P;ENSG00000196628:ENST00000565018:exon15:c.A1148C:p.Q383P;ENSG00000196628:ENST00000354452:exon15:c.A1148C:p.Q383P;ENSG00000196628:ENST00000566286:exon14:c.A1139C:p.Q380P;ENSG00000196628:ENST00000356073:exon15:c.A1148C:p.Q383P;ENSG00000196628:ENST00000543082:exon13:c.A1022C:p.Q341P;ENSG00000196628:ENST00000570287:exon8:c.A668C:p.Q223P;ENSG00000196628:ENST00000544241:exon11:c.A935C:p.Q312P;ENSG00000196628:ENST00000537578:exon14:c.A1076C:p.Q359P;ENSG00000196628:ENST00000564403:exon15:c.A1166C:p.Q389P;ENSG00000196628:ENST00000570177:exon10:c.A758C:p.Q253P;ENSG00000196628:ENST00000457482:exon8:c.A668C:p.Q223P;ENSG00000196628:ENST00000568673:exon14:c.A1076C:p.Q359P;ENSG00000196628:ENST00000540999:exon14:c.A1076C:p.Q359P;ENSG00000196628:ENST00000537856:exon10:c.A758C:p.Q253P;ENSG00000196628:ENST00000398339:exon16:c.A1454C:p.Q485P;ENSG00000196628:ENST00000564228:exon11:c.A935C:p.Q312P;ENSG00000196628:ENST00000567880:exon12:c.A968C:p.Q323P;	0.0237015918999774	0.216
18	52921931	G	A	18	55254700	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243236:exon8:c.C667T:p.Q223X;TCF4:NM_001243235:exon8:c.C667T:p.Q223X;TCF4:NM_001243231:exon13:c.C1021T:p.Q341X;TCF4:NM_003199:exon15:c.C1147T:p.Q383X;TCF4:NM_001243230:exon14:c.C1138T:p.Q380X;TCF4:NM_001243232:exon11:c.C934T:p.Q312X;TCF4:NM_001083962:exon15:c.C1147T:p.Q383X;TCF4:NM_001243227:exon14:c.C1075T:p.Q359X;TCF4:NM_001243234:exon8:c.C667T:p.Q223X;TCF4:NM_001243226:exon16:c.C1453T:p.Q485X;TCF4:NM_001243228:exon15:c.C1165T:p.Q389X;TCF4:NM_001243233:exon11:c.C757T:p.Q253X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon13:c.C967T:p.Q323X;ENSG00000196628:ENST00000561831:exon8:c.C667T:p.Q223X;ENSG00000196628:ENST00000564999:exon15:c.C1147T:p.Q383X;ENSG00000196628:ENST00000568740:exon14:c.C1072T:p.Q358X;ENSG00000196628:ENST00000561992:exon11:c.C757T:p.Q253X;ENSG00000196628:ENST00000565018:exon15:c.C1147T:p.Q383X;ENSG00000196628:ENST00000354452:exon15:c.C1147T:p.Q383X;ENSG00000196628:ENST00000566286:exon14:c.C1138T:p.Q380X;ENSG00000196628:ENST00000356073:exon15:c.C1147T:p.Q383X;ENSG00000196628:ENST00000543082:exon13:c.C1021T:p.Q341X;ENSG00000196628:ENST00000570287:exon8:c.C667T:p.Q223X;ENSG00000196628:ENST00000544241:exon11:c.C934T:p.Q312X;ENSG00000196628:ENST00000537578:exon14:c.C1075T:p.Q359X;ENSG00000196628:ENST00000564403:exon15:c.C1165T:p.Q389X;ENSG00000196628:ENST00000570177:exon10:c.C757T:p.Q253X;ENSG00000196628:ENST00000457482:exon8:c.C667T:p.Q223X;ENSG00000196628:ENST00000568673:exon14:c.C1075T:p.Q359X;ENSG00000196628:ENST00000540999:exon14:c.C1075T:p.Q359X;ENSG00000196628:ENST00000537856:exon10:c.C757T:p.Q253X;ENSG00000196628:ENST00000398339:exon16:c.C1453T:p.Q485X;ENSG00000196628:ENST00000564228:exon11:c.C934T:p.Q312X;ENSG00000196628:ENST00000567880:exon12:c.C967T:p.Q323X;	0.995491613781797	0.93
18	52921931	G	C	18	55254700	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.C667G:p.Q223E;TCF4:NM_001243235:exon8:c.C667G:p.Q223E;TCF4:NM_001243231:exon13:c.C1021G:p.Q341E;TCF4:NM_003199:exon15:c.C1147G:p.Q383E;TCF4:NM_001243230:exon14:c.C1138G:p.Q380E;TCF4:NM_001243232:exon11:c.C934G:p.Q312E;TCF4:NM_001083962:exon15:c.C1147G:p.Q383E;TCF4:NM_001243227:exon14:c.C1075G:p.Q359E;TCF4:NM_001243234:exon8:c.C667G:p.Q223E;TCF4:NM_001243226:exon16:c.C1453G:p.Q485E;TCF4:NM_001243228:exon15:c.C1165G:p.Q389E;TCF4:NM_001243233:exon11:c.C757G:p.Q253E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.C967G:p.Q323E;ENSG00000196628:ENST00000561831:exon8:c.C667G:p.Q223E;ENSG00000196628:ENST00000564999:exon15:c.C1147G:p.Q383E;ENSG00000196628:ENST00000568740:exon14:c.C1072G:p.Q358E;ENSG00000196628:ENST00000561992:exon11:c.C757G:p.Q253E;ENSG00000196628:ENST00000565018:exon15:c.C1147G:p.Q383E;ENSG00000196628:ENST00000354452:exon15:c.C1147G:p.Q383E;ENSG00000196628:ENST00000566286:exon14:c.C1138G:p.Q380E;ENSG00000196628:ENST00000356073:exon15:c.C1147G:p.Q383E;ENSG00000196628:ENST00000543082:exon13:c.C1021G:p.Q341E;ENSG00000196628:ENST00000570287:exon8:c.C667G:p.Q223E;ENSG00000196628:ENST00000544241:exon11:c.C934G:p.Q312E;ENSG00000196628:ENST00000537578:exon14:c.C1075G:p.Q359E;ENSG00000196628:ENST00000564403:exon15:c.C1165G:p.Q389E;ENSG00000196628:ENST00000570177:exon10:c.C757G:p.Q253E;ENSG00000196628:ENST00000457482:exon8:c.C667G:p.Q223E;ENSG00000196628:ENST00000568673:exon14:c.C1075G:p.Q359E;ENSG00000196628:ENST00000540999:exon14:c.C1075G:p.Q359E;ENSG00000196628:ENST00000537856:exon10:c.C757G:p.Q253E;ENSG00000196628:ENST00000398339:exon16:c.C1453G:p.Q485E;ENSG00000196628:ENST00000564228:exon11:c.C934G:p.Q312E;ENSG00000196628:ENST00000567880:exon12:c.C967G:p.Q323E;	0.969222621220473	0.708
18	52921931	G	T	18	55254700	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon8:c.C667A:p.Q223K;TCF4:NM_001243235:exon8:c.C667A:p.Q223K;TCF4:NM_001243231:exon13:c.C1021A:p.Q341K;TCF4:NM_003199:exon15:c.C1147A:p.Q383K;TCF4:NM_001243230:exon14:c.C1138A:p.Q380K;TCF4:NM_001243232:exon11:c.C934A:p.Q312K;TCF4:NM_001083962:exon15:c.C1147A:p.Q383K;TCF4:NM_001243227:exon14:c.C1075A:p.Q359K;TCF4:NM_001243234:exon8:c.C667A:p.Q223K;TCF4:NM_001243226:exon16:c.C1453A:p.Q485K;TCF4:NM_001243228:exon15:c.C1165A:p.Q389K;TCF4:NM_001243233:exon11:c.C757A:p.Q253K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon13:c.C967A:p.Q323K;ENSG00000196628:ENST00000561831:exon8:c.C667A:p.Q223K;ENSG00000196628:ENST00000564999:exon15:c.C1147A:p.Q383K;ENSG00000196628:ENST00000568740:exon14:c.C1072A:p.Q358K;ENSG00000196628:ENST00000561992:exon11:c.C757A:p.Q253K;ENSG00000196628:ENST00000565018:exon15:c.C1147A:p.Q383K;ENSG00000196628:ENST00000354452:exon15:c.C1147A:p.Q383K;ENSG00000196628:ENST00000566286:exon14:c.C1138A:p.Q380K;ENSG00000196628:ENST00000356073:exon15:c.C1147A:p.Q383K;ENSG00000196628:ENST00000543082:exon13:c.C1021A:p.Q341K;ENSG00000196628:ENST00000570287:exon8:c.C667A:p.Q223K;ENSG00000196628:ENST00000544241:exon11:c.C934A:p.Q312K;ENSG00000196628:ENST00000537578:exon14:c.C1075A:p.Q359K;ENSG00000196628:ENST00000564403:exon15:c.C1165A:p.Q389K;ENSG00000196628:ENST00000570177:exon10:c.C757A:p.Q253K;ENSG00000196628:ENST00000457482:exon8:c.C667A:p.Q223K;ENSG00000196628:ENST00000568673:exon14:c.C1075A:p.Q359K;ENSG00000196628:ENST00000540999:exon14:c.C1075A:p.Q359K;ENSG00000196628:ENST00000537856:exon10:c.C757A:p.Q253K;ENSG00000196628:ENST00000398339:exon16:c.C1453A:p.Q485K;ENSG00000196628:ENST00000564228:exon11:c.C934A:p.Q312K;ENSG00000196628:ENST00000567880:exon12:c.C967A:p.Q323K;	0.948660292107731	0.824
18	52921932	C	A	18	55254701	y	y	splicing	TCF4(NM_001243226:exon17:c.1453-1G>T;NM_001243230:exon15:c.1138-1G>T;NM_001243234:exon9:c.667-1G>T;NM_001243232:exon12:c.934-1G>T;NM_001243236:exon9:c.667-1G>T;NM_001083962:exon16:c.1147-1G>T;NM_003199:exon16:c.1147-1G>T;NM_001243235:exon9:c.667-1G>T;NM_001243233:exon12:c.757-1G>T;NM_001243231:exon14:c.1021-1G>T;NM_001243228:exon16:c.1165-1G>T;NM_001243227:exon15:c.1075-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1147-1G>T;ENST00000356073:exon16:c.1147-1G>T;ENST00000568673:exon15:c.1075-1G>T;ENST00000543082:exon14:c.1021-1G>T;ENST00000457482:exon9:c.667-1G>T;ENST00000540999:exon15:c.1075-1G>T;ENST00000537578:exon15:c.1075-1G>T;ENST00000564999:exon16:c.1147-1G>T;ENST00000568740:exon15:c.1072-1G>T;ENST00000537856:exon11:c.757-1G>T;ENST00000544241:exon12:c.934-1G>T;ENST00000561992:exon12:c.757-1G>T;ENST00000561831:exon9:c.667-1G>T;ENST00000565018:exon16:c.1147-1G>T;ENST00000566279:exon14:c.967-1G>T;ENST00000566286:exon15:c.1138-1G>T;ENST00000567880:exon13:c.967-1G>T;ENST00000564228:exon12:c.934-1G>T;ENST00000570287:exon9:c.667-1G>T;ENST00000398339:exon17:c.1453-1G>T;ENST00000564403:exon16:c.1165-1G>T;ENST00000570177:exon11:c.757-1G>T)	.	.	0.999974043497117	0.89
18	52921932	C	G	18	55254701	y	y	splicing	TCF4(NM_001243226:exon17:c.1453-1G>C;NM_001243230:exon15:c.1138-1G>C;NM_001243234:exon9:c.667-1G>C;NM_001243232:exon12:c.934-1G>C;NM_001243236:exon9:c.667-1G>C;NM_001083962:exon16:c.1147-1G>C;NM_003199:exon16:c.1147-1G>C;NM_001243235:exon9:c.667-1G>C;NM_001243233:exon12:c.757-1G>C;NM_001243231:exon14:c.1021-1G>C;NM_001243228:exon16:c.1165-1G>C;NM_001243227:exon15:c.1075-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1147-1G>C;ENST00000356073:exon16:c.1147-1G>C;ENST00000568673:exon15:c.1075-1G>C;ENST00000543082:exon14:c.1021-1G>C;ENST00000457482:exon9:c.667-1G>C;ENST00000540999:exon15:c.1075-1G>C;ENST00000537578:exon15:c.1075-1G>C;ENST00000564999:exon16:c.1147-1G>C;ENST00000568740:exon15:c.1072-1G>C;ENST00000537856:exon11:c.757-1G>C;ENST00000544241:exon12:c.934-1G>C;ENST00000561992:exon12:c.757-1G>C;ENST00000561831:exon9:c.667-1G>C;ENST00000565018:exon16:c.1147-1G>C;ENST00000566279:exon14:c.967-1G>C;ENST00000566286:exon15:c.1138-1G>C;ENST00000567880:exon13:c.967-1G>C;ENST00000564228:exon12:c.934-1G>C;ENST00000570287:exon9:c.667-1G>C;ENST00000398339:exon17:c.1453-1G>C;ENST00000564403:exon16:c.1165-1G>C;ENST00000570177:exon11:c.757-1G>C)	.	.	0.999974043497117	0.89
18	52921932	C	T	18	55254701	y	y	splicing	TCF4(NM_001243226:exon17:c.1453-1G>A;NM_001243230:exon15:c.1138-1G>A;NM_001243234:exon9:c.667-1G>A;NM_001243232:exon12:c.934-1G>A;NM_001243236:exon9:c.667-1G>A;NM_001083962:exon16:c.1147-1G>A;NM_003199:exon16:c.1147-1G>A;NM_001243235:exon9:c.667-1G>A;NM_001243233:exon12:c.757-1G>A;NM_001243231:exon14:c.1021-1G>A;NM_001243228:exon16:c.1165-1G>A;NM_001243227:exon15:c.1075-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1147-1G>A;ENST00000356073:exon16:c.1147-1G>A;ENST00000568673:exon15:c.1075-1G>A;ENST00000543082:exon14:c.1021-1G>A;ENST00000457482:exon9:c.667-1G>A;ENST00000540999:exon15:c.1075-1G>A;ENST00000537578:exon15:c.1075-1G>A;ENST00000564999:exon16:c.1147-1G>A;ENST00000568740:exon15:c.1072-1G>A;ENST00000537856:exon11:c.757-1G>A;ENST00000544241:exon12:c.934-1G>A;ENST00000561992:exon12:c.757-1G>A;ENST00000561831:exon9:c.667-1G>A;ENST00000565018:exon16:c.1147-1G>A;ENST00000566279:exon14:c.967-1G>A;ENST00000566286:exon15:c.1138-1G>A;ENST00000567880:exon13:c.967-1G>A;ENST00000564228:exon12:c.934-1G>A;ENST00000570287:exon9:c.667-1G>A;ENST00000398339:exon17:c.1453-1G>A;ENST00000564403:exon16:c.1165-1G>A;ENST00000570177:exon11:c.757-1G>A)	.	.	0.999974043497117	0.89
18	52921933	T	A	18	55254702	y	y	splicing	TCF4(NM_001243226:exon17:c.1453-2A>T;NM_001243230:exon15:c.1138-2A>T;NM_001243234:exon9:c.667-2A>T;NM_001243232:exon12:c.934-2A>T;NM_001243236:exon9:c.667-2A>T;NM_001083962:exon16:c.1147-2A>T;NM_003199:exon16:c.1147-2A>T;NM_001243235:exon9:c.667-2A>T;NM_001243233:exon12:c.757-2A>T;NM_001243231:exon14:c.1021-2A>T;NM_001243228:exon16:c.1165-2A>T;NM_001243227:exon15:c.1075-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1147-2A>T;ENST00000356073:exon16:c.1147-2A>T;ENST00000568673:exon15:c.1075-2A>T;ENST00000543082:exon14:c.1021-2A>T;ENST00000457482:exon9:c.667-2A>T;ENST00000540999:exon15:c.1075-2A>T;ENST00000537578:exon15:c.1075-2A>T;ENST00000564999:exon16:c.1147-2A>T;ENST00000568740:exon15:c.1072-2A>T;ENST00000537856:exon11:c.757-2A>T;ENST00000544241:exon12:c.934-2A>T;ENST00000561992:exon12:c.757-2A>T;ENST00000561831:exon9:c.667-2A>T;ENST00000565018:exon16:c.1147-2A>T;ENST00000566279:exon14:c.967-2A>T;ENST00000566286:exon15:c.1138-2A>T;ENST00000567880:exon13:c.967-2A>T;ENST00000564228:exon12:c.934-2A>T;ENST00000570287:exon9:c.667-2A>T;ENST00000398339:exon17:c.1453-2A>T;ENST00000564403:exon16:c.1165-2A>T;ENST00000570177:exon11:c.757-2A>T)	.	.	0.999933834912627	0.892
18	52921933	T	C	18	55254702	y	y	splicing	TCF4(NM_001243226:exon17:c.1453-2A>G;NM_001243230:exon15:c.1138-2A>G;NM_001243234:exon9:c.667-2A>G;NM_001243232:exon12:c.934-2A>G;NM_001243236:exon9:c.667-2A>G;NM_001083962:exon16:c.1147-2A>G;NM_003199:exon16:c.1147-2A>G;NM_001243235:exon9:c.667-2A>G;NM_001243233:exon12:c.757-2A>G;NM_001243231:exon14:c.1021-2A>G;NM_001243228:exon16:c.1165-2A>G;NM_001243227:exon15:c.1075-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1147-2A>G;ENST00000356073:exon16:c.1147-2A>G;ENST00000568673:exon15:c.1075-2A>G;ENST00000543082:exon14:c.1021-2A>G;ENST00000457482:exon9:c.667-2A>G;ENST00000540999:exon15:c.1075-2A>G;ENST00000537578:exon15:c.1075-2A>G;ENST00000564999:exon16:c.1147-2A>G;ENST00000568740:exon15:c.1072-2A>G;ENST00000537856:exon11:c.757-2A>G;ENST00000544241:exon12:c.934-2A>G;ENST00000561992:exon12:c.757-2A>G;ENST00000561831:exon9:c.667-2A>G;ENST00000565018:exon16:c.1147-2A>G;ENST00000566279:exon14:c.967-2A>G;ENST00000566286:exon15:c.1138-2A>G;ENST00000567880:exon13:c.967-2A>G;ENST00000564228:exon12:c.934-2A>G;ENST00000570287:exon9:c.667-2A>G;ENST00000398339:exon17:c.1453-2A>G;ENST00000564403:exon16:c.1165-2A>G;ENST00000570177:exon11:c.757-2A>G)	.	.	0.999933834912627	0.892
18	52921933	T	G	18	55254702	y	y	splicing	TCF4(NM_001243226:exon17:c.1453-2A>C;NM_001243230:exon15:c.1138-2A>C;NM_001243234:exon9:c.667-2A>C;NM_001243232:exon12:c.934-2A>C;NM_001243236:exon9:c.667-2A>C;NM_001083962:exon16:c.1147-2A>C;NM_003199:exon16:c.1147-2A>C;NM_001243235:exon9:c.667-2A>C;NM_001243233:exon12:c.757-2A>C;NM_001243231:exon14:c.1021-2A>C;NM_001243228:exon16:c.1165-2A>C;NM_001243227:exon15:c.1075-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon16:c.1147-2A>C;ENST00000356073:exon16:c.1147-2A>C;ENST00000568673:exon15:c.1075-2A>C;ENST00000543082:exon14:c.1021-2A>C;ENST00000457482:exon9:c.667-2A>C;ENST00000540999:exon15:c.1075-2A>C;ENST00000537578:exon15:c.1075-2A>C;ENST00000564999:exon16:c.1147-2A>C;ENST00000568740:exon15:c.1072-2A>C;ENST00000537856:exon11:c.757-2A>C;ENST00000544241:exon12:c.934-2A>C;ENST00000561992:exon12:c.757-2A>C;ENST00000561831:exon9:c.667-2A>C;ENST00000565018:exon16:c.1147-2A>C;ENST00000566279:exon14:c.967-2A>C;ENST00000566286:exon15:c.1138-2A>C;ENST00000567880:exon13:c.967-2A>C;ENST00000564228:exon12:c.934-2A>C;ENST00000570287:exon9:c.667-2A>C;ENST00000398339:exon17:c.1453-2A>C;ENST00000564403:exon16:c.1165-2A>C;ENST00000570177:exon11:c.757-2A>C)	.	.	0.999933834912627	0.892
18	52921934	G	A	18	55254703	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0879293817012319	0.35
18	52921934	G	C	18	55254703	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.997039733476106	0.868
18	52921934	G	T	18	55254703	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.986737950074168	0.854
18	52921935	T	A	18	55254704	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0268623955990134	0.19
18	52921935	T	C	18	55254704	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.994173029169516	0.892
18	52921935	T	G	18	55254704	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00783909388169113	0.076
18	52921936	T	A	18	55254705	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.44004306292769E-4	0.034
18	52921936	T	C	18	55254705	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.001229187956839	0.068
18	52921936	T	G	18	55254705	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.78859996955277E-4	0.034
18	52921937	G	A	18	55254706	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00122973771646508	0.086
18	52921937	G	C	18	55254706	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.609862308703409	0.62
18	52921937	G	T	18	55254706	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.449724902329626	0.59
18	52921938	G	A	18	55254707	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.97786064479423E-4	0.154
18	52921938	G	C	18	55254707	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998922690311268	0.964
18	52921938	G	T	18	55254707	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0190328818678797	0.24
18	52921939	T	A	18	55254708	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.45131059428968E-4	0.016
18	52921939	T	C	18	55254708	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998943647887933	0.95
18	52921939	T	G	18	55254708	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.74871190857539E-4	0.036
18	52921940	T	A	18	55254709	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.65877083759684E-5	0.016
18	52921940	T	C	18	55254709	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.42664719085223E-5	0.006
18	52921940	T	G	18	55254709	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.1390795617917E-5	0.002
18	52921941	A	C	18	55254710	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00556282032081858	0.384
18	52921941	A	G	18	55254710	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.34944612308557E-4	0.058
18	52921941	A	T	18	55254710	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0706017077030534	0.496
18	52921942	A	C	18	55254711	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.386050430340667	0.57
18	52921942	A	G	18	55254711	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00218408526893205	0.276
18	52921942	A	T	18	55254711	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.44582997180869	0.632
18	52921943	C	A	18	55254712	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.92297929785596E-5	0.042
18	52921943	C	G	18	55254712	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.92297929785596E-5	0.016
18	52921943	C	T	18	55254712	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.56451969074053E-4	0.05
18	52924538	A	C	18	55257307	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.52669722653153E-4	0.0
18	52924538	A	G	18	55257307	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.76793315026457E-5	0.0
18	52924538	A	T	18	55257307	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.05152168687631E-5	0.0
18	52924539	G	A	18	55257308	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.98101230717053E-4	0.022
18	52924539	G	C	18	55257308	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.4697483930116E-4	0.002
18	52924539	G	T	18	55257308	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.59620983202452E-5	0.0
18	52924540	A	C	18	55257309	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00956300919327669	0.39
18	52924540	A	G	18	55257309	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0115589949383552	0.284
18	52924540	A	T	18	55257309	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0712008803602706	0.316
18	52924541	C	A	18	55257310	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999985015346821	0.99
18	52924541	C	G	18	55257310	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999976229545353	0.976
18	52924541	C	T	18	55257310	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999987705340375	1.0
18	52924542	A	C	18	55257311	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.10397177270982E-5	0.048
18	52924542	A	G	18	55257311	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.18971561781112E-4	0.032
18	52924542	A	T	18	55257311	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.00458151422043E-4	0.02
18	52924543	T	A	18	55257312	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999891520908341	0.95
18	52924543	T	C	18	55257312	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.995853138118677	0.928
18	52924543	T	G	18	55257312	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999968503678221	0.954
18	52924544	A	C	18	55257313	y	y	splicing	TCF4(NM_001243226:exon16:c.1452+2T>G;NM_001243230:exon14:c.1137+2T>G;NM_001243234:exon8:c.666+2T>G;NM_001243232:exon11:c.933+2T>G;NM_001243236:exon8:c.666+2T>G;NM_001083962:exon15:c.1146+2T>G;NM_003199:exon15:c.1146+2T>G;NM_001243235:exon8:c.666+2T>G;NM_001243233:exon11:c.756+2T>G;NM_001243231:exon13:c.1020+2T>G;NM_001243228:exon15:c.1164+2T>G;NM_001243227:exon14:c.1074+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1146+2T>G;ENST00000356073:exon15:c.1146+2T>G;ENST00000568673:exon14:c.1074+2T>G;ENST00000543082:exon13:c.1020+2T>G;ENST00000457482:exon8:c.666+2T>G;ENST00000540999:exon14:c.1074+2T>G;ENST00000537578:exon14:c.1074+2T>G;ENST00000564999:exon15:c.1146+2T>G;ENST00000568740:exon14:c.1071+2T>G;ENST00000537856:exon10:c.756+2T>G;ENST00000544241:exon11:c.933+2T>G;ENST00000561992:exon11:c.756+2T>G;ENST00000561831:exon8:c.666+2T>G;ENST00000565018:exon15:c.1146+2T>G;ENST00000566279:exon13:c.966+2T>G;ENST00000566286:exon14:c.1137+2T>G;ENST00000567880:exon12:c.966+2T>G;ENST00000564228:exon11:c.933+2T>G;ENST00000570287:exon8:c.666+2T>G;ENST00000398339:exon16:c.1452+2T>G;ENST00000564403:exon15:c.1164+2T>G;ENST00000570177:exon10:c.756+2T>G)	.	.	0.999988247793601	0.93
18	52924544	A	G	18	55257313	y	y	splicing	TCF4(NM_001243226:exon16:c.1452+2T>C;NM_001243230:exon14:c.1137+2T>C;NM_001243234:exon8:c.666+2T>C;NM_001243232:exon11:c.933+2T>C;NM_001243236:exon8:c.666+2T>C;NM_001083962:exon15:c.1146+2T>C;NM_003199:exon15:c.1146+2T>C;NM_001243235:exon8:c.666+2T>C;NM_001243233:exon11:c.756+2T>C;NM_001243231:exon13:c.1020+2T>C;NM_001243228:exon15:c.1164+2T>C;NM_001243227:exon14:c.1074+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1146+2T>C;ENST00000356073:exon15:c.1146+2T>C;ENST00000568673:exon14:c.1074+2T>C;ENST00000543082:exon13:c.1020+2T>C;ENST00000457482:exon8:c.666+2T>C;ENST00000540999:exon14:c.1074+2T>C;ENST00000537578:exon14:c.1074+2T>C;ENST00000564999:exon15:c.1146+2T>C;ENST00000568740:exon14:c.1071+2T>C;ENST00000537856:exon10:c.756+2T>C;ENST00000544241:exon11:c.933+2T>C;ENST00000561992:exon11:c.756+2T>C;ENST00000561831:exon8:c.666+2T>C;ENST00000565018:exon15:c.1146+2T>C;ENST00000566279:exon13:c.966+2T>C;ENST00000566286:exon14:c.1137+2T>C;ENST00000567880:exon12:c.966+2T>C;ENST00000564228:exon11:c.933+2T>C;ENST00000570287:exon8:c.666+2T>C;ENST00000398339:exon16:c.1452+2T>C;ENST00000564403:exon15:c.1164+2T>C;ENST00000570177:exon10:c.756+2T>C)	.	.	0.995320650369382	0.716
18	52924544	A	T	18	55257313	y	y	splicing	TCF4(NM_001243226:exon16:c.1452+2T>A;NM_001243230:exon14:c.1137+2T>A;NM_001243234:exon8:c.666+2T>A;NM_001243232:exon11:c.933+2T>A;NM_001243236:exon8:c.666+2T>A;NM_001083962:exon15:c.1146+2T>A;NM_003199:exon15:c.1146+2T>A;NM_001243235:exon8:c.666+2T>A;NM_001243233:exon11:c.756+2T>A;NM_001243231:exon13:c.1020+2T>A;NM_001243228:exon15:c.1164+2T>A;NM_001243227:exon14:c.1074+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1146+2T>A;ENST00000356073:exon15:c.1146+2T>A;ENST00000568673:exon14:c.1074+2T>A;ENST00000543082:exon13:c.1020+2T>A;ENST00000457482:exon8:c.666+2T>A;ENST00000540999:exon14:c.1074+2T>A;ENST00000537578:exon14:c.1074+2T>A;ENST00000564999:exon15:c.1146+2T>A;ENST00000568740:exon14:c.1071+2T>A;ENST00000537856:exon10:c.756+2T>A;ENST00000544241:exon11:c.933+2T>A;ENST00000561992:exon11:c.756+2T>A;ENST00000561831:exon8:c.666+2T>A;ENST00000565018:exon15:c.1146+2T>A;ENST00000566279:exon13:c.966+2T>A;ENST00000566286:exon14:c.1137+2T>A;ENST00000567880:exon12:c.966+2T>A;ENST00000564228:exon11:c.933+2T>A;ENST00000570287:exon8:c.666+2T>A;ENST00000398339:exon16:c.1452+2T>A;ENST00000564403:exon15:c.1164+2T>A;ENST00000570177:exon10:c.756+2T>A)	.	.	0.999988247793601	0.93
18	52924545	C	A	18	55257314	y	y	splicing	TCF4(NM_001243226:exon16:c.1452+1G>T;NM_001243230:exon14:c.1137+1G>T;NM_001243234:exon8:c.666+1G>T;NM_001243232:exon11:c.933+1G>T;NM_001243236:exon8:c.666+1G>T;NM_001083962:exon15:c.1146+1G>T;NM_003199:exon15:c.1146+1G>T;NM_001243235:exon8:c.666+1G>T;NM_001243233:exon11:c.756+1G>T;NM_001243231:exon13:c.1020+1G>T;NM_001243228:exon15:c.1164+1G>T;NM_001243227:exon14:c.1074+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1146+1G>T;ENST00000356073:exon15:c.1146+1G>T;ENST00000568673:exon14:c.1074+1G>T;ENST00000543082:exon13:c.1020+1G>T;ENST00000457482:exon8:c.666+1G>T;ENST00000540999:exon14:c.1074+1G>T;ENST00000537578:exon14:c.1074+1G>T;ENST00000564999:exon15:c.1146+1G>T;ENST00000568740:exon14:c.1071+1G>T;ENST00000537856:exon10:c.756+1G>T;ENST00000544241:exon11:c.933+1G>T;ENST00000561992:exon11:c.756+1G>T;ENST00000561831:exon8:c.666+1G>T;ENST00000565018:exon15:c.1146+1G>T;ENST00000566279:exon13:c.966+1G>T;ENST00000566286:exon14:c.1137+1G>T;ENST00000567880:exon12:c.966+1G>T;ENST00000564228:exon11:c.933+1G>T;ENST00000570287:exon8:c.666+1G>T;ENST00000398339:exon16:c.1452+1G>T;ENST00000564403:exon15:c.1164+1G>T;ENST00000570177:exon10:c.756+1G>T)	.	.	0.999990361384395	0.938
18	52924545	C	G	18	55257314	y	y	splicing	TCF4(NM_001243226:exon16:c.1452+1G>C;NM_001243230:exon14:c.1137+1G>C;NM_001243234:exon8:c.666+1G>C;NM_001243232:exon11:c.933+1G>C;NM_001243236:exon8:c.666+1G>C;NM_001083962:exon15:c.1146+1G>C;NM_003199:exon15:c.1146+1G>C;NM_001243235:exon8:c.666+1G>C;NM_001243233:exon11:c.756+1G>C;NM_001243231:exon13:c.1020+1G>C;NM_001243228:exon15:c.1164+1G>C;NM_001243227:exon14:c.1074+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1146+1G>C;ENST00000356073:exon15:c.1146+1G>C;ENST00000568673:exon14:c.1074+1G>C;ENST00000543082:exon13:c.1020+1G>C;ENST00000457482:exon8:c.666+1G>C;ENST00000540999:exon14:c.1074+1G>C;ENST00000537578:exon14:c.1074+1G>C;ENST00000564999:exon15:c.1146+1G>C;ENST00000568740:exon14:c.1071+1G>C;ENST00000537856:exon10:c.756+1G>C;ENST00000544241:exon11:c.933+1G>C;ENST00000561992:exon11:c.756+1G>C;ENST00000561831:exon8:c.666+1G>C;ENST00000565018:exon15:c.1146+1G>C;ENST00000566279:exon13:c.966+1G>C;ENST00000566286:exon14:c.1137+1G>C;ENST00000567880:exon12:c.966+1G>C;ENST00000564228:exon11:c.933+1G>C;ENST00000570287:exon8:c.666+1G>C;ENST00000398339:exon16:c.1452+1G>C;ENST00000564403:exon15:c.1164+1G>C;ENST00000570177:exon10:c.756+1G>C)	.	.	0.999990361384395	0.938
18	52924545	C	T	18	55257314	y	y	splicing	TCF4(NM_001243226:exon16:c.1452+1G>A;NM_001243230:exon14:c.1137+1G>A;NM_001243234:exon8:c.666+1G>A;NM_001243232:exon11:c.933+1G>A;NM_001243236:exon8:c.666+1G>A;NM_001083962:exon15:c.1146+1G>A;NM_003199:exon15:c.1146+1G>A;NM_001243235:exon8:c.666+1G>A;NM_001243233:exon11:c.756+1G>A;NM_001243231:exon13:c.1020+1G>A;NM_001243228:exon15:c.1164+1G>A;NM_001243227:exon14:c.1074+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1146+1G>A;ENST00000356073:exon15:c.1146+1G>A;ENST00000568673:exon14:c.1074+1G>A;ENST00000543082:exon13:c.1020+1G>A;ENST00000457482:exon8:c.666+1G>A;ENST00000540999:exon14:c.1074+1G>A;ENST00000537578:exon14:c.1074+1G>A;ENST00000564999:exon15:c.1146+1G>A;ENST00000568740:exon14:c.1071+1G>A;ENST00000537856:exon10:c.756+1G>A;ENST00000544241:exon11:c.933+1G>A;ENST00000561992:exon11:c.756+1G>A;ENST00000561831:exon8:c.666+1G>A;ENST00000565018:exon15:c.1146+1G>A;ENST00000566279:exon13:c.966+1G>A;ENST00000566286:exon14:c.1137+1G>A;ENST00000567880:exon12:c.966+1G>A;ENST00000564228:exon11:c.933+1G>A;ENST00000570287:exon8:c.666+1G>A;ENST00000398339:exon16:c.1452+1G>A;ENST00000564403:exon15:c.1164+1G>A;ENST00000570177:exon10:c.756+1G>A)	.	.	0.999990361384395	0.938
18	52924546	C	A	18	55257315	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.G666T:p.L222F;TCF4:NM_001243235:exon7:c.G666T:p.L222F;TCF4:NM_001243231:exon12:c.G1020T:p.L340F;TCF4:NM_003199:exon14:c.G1146T:p.L382F;TCF4:NM_001243230:exon13:c.G1137T:p.L379F;TCF4:NM_001243232:exon10:c.G933T:p.L311F;TCF4:NM_001083962:exon14:c.G1146T:p.L382F;TCF4:NM_001243227:exon13:c.G1074T:p.L358F;TCF4:NM_001243234:exon7:c.G666T:p.L222F;TCF4:NM_001243226:exon15:c.G1452T:p.L484F;TCF4:NM_001243228:exon14:c.G1164T:p.L388F;TCF4:NM_001243233:exon10:c.G756T:p.L252F;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.G966T:p.L322F;ENSG00000196628:ENST00000561831:exon7:c.G666T:p.L222F;ENSG00000196628:ENST00000564999:exon14:c.G1146T:p.L382F;ENSG00000196628:ENST00000568740:exon13:c.G1071T:p.L357F;ENSG00000196628:ENST00000561992:exon10:c.G756T:p.L252F;ENSG00000196628:ENST00000565018:exon14:c.G1146T:p.L382F;ENSG00000196628:ENST00000354452:exon14:c.G1146T:p.L382F;ENSG00000196628:ENST00000566286:exon13:c.G1137T:p.L379F;ENSG00000196628:ENST00000356073:exon14:c.G1146T:p.L382F;ENSG00000196628:ENST00000543082:exon12:c.G1020T:p.L340F;ENSG00000196628:ENST00000570287:exon7:c.G666T:p.L222F;ENSG00000196628:ENST00000544241:exon10:c.G933T:p.L311F;ENSG00000196628:ENST00000537578:exon13:c.G1074T:p.L358F;ENSG00000196628:ENST00000564403:exon14:c.G1164T:p.L388F;ENSG00000196628:ENST00000570177:exon9:c.G756T:p.L252F;ENSG00000196628:ENST00000457482:exon7:c.G666T:p.L222F;ENSG00000196628:ENST00000568673:exon13:c.G1074T:p.L358F;ENSG00000196628:ENST00000540999:exon13:c.G1074T:p.L358F;ENSG00000196628:ENST00000537856:exon9:c.G756T:p.L252F;ENSG00000196628:ENST00000398339:exon15:c.G1452T:p.L484F;ENSG00000196628:ENST00000564228:exon10:c.G933T:p.L311F;ENSG00000196628:ENST00000567880:exon11:c.G966T:p.L322F;	0.999987697658815	0.996
18	52924546	C	G	18	55257315	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.G666C:p.L222F;TCF4:NM_001243235:exon7:c.G666C:p.L222F;TCF4:NM_001243231:exon12:c.G1020C:p.L340F;TCF4:NM_003199:exon14:c.G1146C:p.L382F;TCF4:NM_001243230:exon13:c.G1137C:p.L379F;TCF4:NM_001243232:exon10:c.G933C:p.L311F;TCF4:NM_001083962:exon14:c.G1146C:p.L382F;TCF4:NM_001243227:exon13:c.G1074C:p.L358F;TCF4:NM_001243234:exon7:c.G666C:p.L222F;TCF4:NM_001243226:exon15:c.G1452C:p.L484F;TCF4:NM_001243228:exon14:c.G1164C:p.L388F;TCF4:NM_001243233:exon10:c.G756C:p.L252F;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.G966C:p.L322F;ENSG00000196628:ENST00000561831:exon7:c.G666C:p.L222F;ENSG00000196628:ENST00000564999:exon14:c.G1146C:p.L382F;ENSG00000196628:ENST00000568740:exon13:c.G1071C:p.L357F;ENSG00000196628:ENST00000561992:exon10:c.G756C:p.L252F;ENSG00000196628:ENST00000565018:exon14:c.G1146C:p.L382F;ENSG00000196628:ENST00000354452:exon14:c.G1146C:p.L382F;ENSG00000196628:ENST00000566286:exon13:c.G1137C:p.L379F;ENSG00000196628:ENST00000356073:exon14:c.G1146C:p.L382F;ENSG00000196628:ENST00000543082:exon12:c.G1020C:p.L340F;ENSG00000196628:ENST00000570287:exon7:c.G666C:p.L222F;ENSG00000196628:ENST00000544241:exon10:c.G933C:p.L311F;ENSG00000196628:ENST00000537578:exon13:c.G1074C:p.L358F;ENSG00000196628:ENST00000564403:exon14:c.G1164C:p.L388F;ENSG00000196628:ENST00000570177:exon9:c.G756C:p.L252F;ENSG00000196628:ENST00000457482:exon7:c.G666C:p.L222F;ENSG00000196628:ENST00000568673:exon13:c.G1074C:p.L358F;ENSG00000196628:ENST00000540999:exon13:c.G1074C:p.L358F;ENSG00000196628:ENST00000537856:exon9:c.G756C:p.L252F;ENSG00000196628:ENST00000398339:exon15:c.G1452C:p.L484F;ENSG00000196628:ENST00000564228:exon10:c.G933C:p.L311F;ENSG00000196628:ENST00000567880:exon11:c.G966C:p.L322F;	0.999992218065595	0.986
18	52924546	C	T	18	55257315	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon7:c.G666A:p.L222L;TCF4:NM_001243235:exon7:c.G666A:p.L222L;TCF4:NM_001243231:exon12:c.G1020A:p.L340L;TCF4:NM_003199:exon14:c.G1146A:p.L382L;TCF4:NM_001243230:exon13:c.G1137A:p.L379L;TCF4:NM_001243232:exon10:c.G933A:p.L311L;TCF4:NM_001083962:exon14:c.G1146A:p.L382L;TCF4:NM_001243227:exon13:c.G1074A:p.L358L;TCF4:NM_001243234:exon7:c.G666A:p.L222L;TCF4:NM_001243226:exon15:c.G1452A:p.L484L;TCF4:NM_001243228:exon14:c.G1164A:p.L388L;TCF4:NM_001243233:exon10:c.G756A:p.L252L;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.G966A:p.L322L;ENSG00000196628:ENST00000561831:exon7:c.G666A:p.L222L;ENSG00000196628:ENST00000564999:exon14:c.G1146A:p.L382L;ENSG00000196628:ENST00000568740:exon13:c.G1071A:p.L357L;ENSG00000196628:ENST00000561992:exon10:c.G756A:p.L252L;ENSG00000196628:ENST00000565018:exon14:c.G1146A:p.L382L;ENSG00000196628:ENST00000354452:exon14:c.G1146A:p.L382L;ENSG00000196628:ENST00000566286:exon13:c.G1137A:p.L379L;ENSG00000196628:ENST00000356073:exon14:c.G1146A:p.L382L;ENSG00000196628:ENST00000543082:exon12:c.G1020A:p.L340L;ENSG00000196628:ENST00000570287:exon7:c.G666A:p.L222L;ENSG00000196628:ENST00000544241:exon10:c.G933A:p.L311L;ENSG00000196628:ENST00000537578:exon13:c.G1074A:p.L358L;ENSG00000196628:ENST00000564403:exon14:c.G1164A:p.L388L;ENSG00000196628:ENST00000570177:exon9:c.G756A:p.L252L;ENSG00000196628:ENST00000457482:exon7:c.G666A:p.L222L;ENSG00000196628:ENST00000568673:exon13:c.G1074A:p.L358L;ENSG00000196628:ENST00000540999:exon13:c.G1074A:p.L358L;ENSG00000196628:ENST00000537856:exon9:c.G756A:p.L252L;ENSG00000196628:ENST00000398339:exon15:c.G1452A:p.L484L;ENSG00000196628:ENST00000564228:exon10:c.G933A:p.L311L;ENSG00000196628:ENST00000567880:exon11:c.G966A:p.L322L;	0.999961683039832	0.992
18	52924547	A	C	18	55257316	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.T665G:p.L222W;TCF4:NM_001243235:exon7:c.T665G:p.L222W;TCF4:NM_001243231:exon12:c.T1019G:p.L340W;TCF4:NM_003199:exon14:c.T1145G:p.L382W;TCF4:NM_001243230:exon13:c.T1136G:p.L379W;TCF4:NM_001243232:exon10:c.T932G:p.L311W;TCF4:NM_001083962:exon14:c.T1145G:p.L382W;TCF4:NM_001243227:exon13:c.T1073G:p.L358W;TCF4:NM_001243234:exon7:c.T665G:p.L222W;TCF4:NM_001243226:exon15:c.T1451G:p.L484W;TCF4:NM_001243228:exon14:c.T1163G:p.L388W;TCF4:NM_001243233:exon10:c.T755G:p.L252W;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.T965G:p.L322W;ENSG00000196628:ENST00000561831:exon7:c.T665G:p.L222W;ENSG00000196628:ENST00000564999:exon14:c.T1145G:p.L382W;ENSG00000196628:ENST00000568740:exon13:c.T1070G:p.L357W;ENSG00000196628:ENST00000561992:exon10:c.T755G:p.L252W;ENSG00000196628:ENST00000565018:exon14:c.T1145G:p.L382W;ENSG00000196628:ENST00000354452:exon14:c.T1145G:p.L382W;ENSG00000196628:ENST00000566286:exon13:c.T1136G:p.L379W;ENSG00000196628:ENST00000356073:exon14:c.T1145G:p.L382W;ENSG00000196628:ENST00000543082:exon12:c.T1019G:p.L340W;ENSG00000196628:ENST00000570287:exon7:c.T665G:p.L222W;ENSG00000196628:ENST00000544241:exon10:c.T932G:p.L311W;ENSG00000196628:ENST00000537578:exon13:c.T1073G:p.L358W;ENSG00000196628:ENST00000564403:exon14:c.T1163G:p.L388W;ENSG00000196628:ENST00000570177:exon9:c.T755G:p.L252W;ENSG00000196628:ENST00000457482:exon7:c.T665G:p.L222W;ENSG00000196628:ENST00000568673:exon13:c.T1073G:p.L358W;ENSG00000196628:ENST00000540999:exon13:c.T1073G:p.L358W;ENSG00000196628:ENST00000537856:exon9:c.T755G:p.L252W;ENSG00000196628:ENST00000398339:exon15:c.T1451G:p.L484W;ENSG00000196628:ENST00000564228:exon10:c.T932G:p.L311W;ENSG00000196628:ENST00000567880:exon11:c.T965G:p.L322W;	0.981774298210922	0.904
18	52924547	A	G	18	55257316	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.T665C:p.L222S;TCF4:NM_001243235:exon7:c.T665C:p.L222S;TCF4:NM_001243231:exon12:c.T1019C:p.L340S;TCF4:NM_003199:exon14:c.T1145C:p.L382S;TCF4:NM_001243230:exon13:c.T1136C:p.L379S;TCF4:NM_001243232:exon10:c.T932C:p.L311S;TCF4:NM_001083962:exon14:c.T1145C:p.L382S;TCF4:NM_001243227:exon13:c.T1073C:p.L358S;TCF4:NM_001243234:exon7:c.T665C:p.L222S;TCF4:NM_001243226:exon15:c.T1451C:p.L484S;TCF4:NM_001243228:exon14:c.T1163C:p.L388S;TCF4:NM_001243233:exon10:c.T755C:p.L252S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.T965C:p.L322S;ENSG00000196628:ENST00000561831:exon7:c.T665C:p.L222S;ENSG00000196628:ENST00000564999:exon14:c.T1145C:p.L382S;ENSG00000196628:ENST00000568740:exon13:c.T1070C:p.L357S;ENSG00000196628:ENST00000561992:exon10:c.T755C:p.L252S;ENSG00000196628:ENST00000565018:exon14:c.T1145C:p.L382S;ENSG00000196628:ENST00000354452:exon14:c.T1145C:p.L382S;ENSG00000196628:ENST00000566286:exon13:c.T1136C:p.L379S;ENSG00000196628:ENST00000356073:exon14:c.T1145C:p.L382S;ENSG00000196628:ENST00000543082:exon12:c.T1019C:p.L340S;ENSG00000196628:ENST00000570287:exon7:c.T665C:p.L222S;ENSG00000196628:ENST00000544241:exon10:c.T932C:p.L311S;ENSG00000196628:ENST00000537578:exon13:c.T1073C:p.L358S;ENSG00000196628:ENST00000564403:exon14:c.T1163C:p.L388S;ENSG00000196628:ENST00000570177:exon9:c.T755C:p.L252S;ENSG00000196628:ENST00000457482:exon7:c.T665C:p.L222S;ENSG00000196628:ENST00000568673:exon13:c.T1073C:p.L358S;ENSG00000196628:ENST00000540999:exon13:c.T1073C:p.L358S;ENSG00000196628:ENST00000537856:exon9:c.T755C:p.L252S;ENSG00000196628:ENST00000398339:exon15:c.T1451C:p.L484S;ENSG00000196628:ENST00000564228:exon10:c.T932C:p.L311S;ENSG00000196628:ENST00000567880:exon11:c.T965C:p.L322S;	0.982735090145112	0.914
18	52924547	A	T	18	55257316	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243236:exon7:c.T665A:p.L222X;TCF4:NM_001243235:exon7:c.T665A:p.L222X;TCF4:NM_001243231:exon12:c.T1019A:p.L340X;TCF4:NM_003199:exon14:c.T1145A:p.L382X;TCF4:NM_001243230:exon13:c.T1136A:p.L379X;TCF4:NM_001243232:exon10:c.T932A:p.L311X;TCF4:NM_001083962:exon14:c.T1145A:p.L382X;TCF4:NM_001243227:exon13:c.T1073A:p.L358X;TCF4:NM_001243234:exon7:c.T665A:p.L222X;TCF4:NM_001243226:exon15:c.T1451A:p.L484X;TCF4:NM_001243228:exon14:c.T1163A:p.L388X;TCF4:NM_001243233:exon10:c.T755A:p.L252X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon12:c.T965A:p.L322X;ENSG00000196628:ENST00000561831:exon7:c.T665A:p.L222X;ENSG00000196628:ENST00000564999:exon14:c.T1145A:p.L382X;ENSG00000196628:ENST00000568740:exon13:c.T1070A:p.L357X;ENSG00000196628:ENST00000561992:exon10:c.T755A:p.L252X;ENSG00000196628:ENST00000565018:exon14:c.T1145A:p.L382X;ENSG00000196628:ENST00000354452:exon14:c.T1145A:p.L382X;ENSG00000196628:ENST00000566286:exon13:c.T1136A:p.L379X;ENSG00000196628:ENST00000356073:exon14:c.T1145A:p.L382X;ENSG00000196628:ENST00000543082:exon12:c.T1019A:p.L340X;ENSG00000196628:ENST00000570287:exon7:c.T665A:p.L222X;ENSG00000196628:ENST00000544241:exon10:c.T932A:p.L311X;ENSG00000196628:ENST00000537578:exon13:c.T1073A:p.L358X;ENSG00000196628:ENST00000564403:exon14:c.T1163A:p.L388X;ENSG00000196628:ENST00000570177:exon9:c.T755A:p.L252X;ENSG00000196628:ENST00000457482:exon7:c.T665A:p.L222X;ENSG00000196628:ENST00000568673:exon13:c.T1073A:p.L358X;ENSG00000196628:ENST00000540999:exon13:c.T1073A:p.L358X;ENSG00000196628:ENST00000537856:exon9:c.T755A:p.L252X;ENSG00000196628:ENST00000398339:exon15:c.T1451A:p.L484X;ENSG00000196628:ENST00000564228:exon10:c.T932A:p.L311X;ENSG00000196628:ENST00000567880:exon11:c.T965A:p.L322X;	0.838718899366288	0.7
18	52924548	A	C	18	55257317	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.T664G:p.L222V;TCF4:NM_001243235:exon7:c.T664G:p.L222V;TCF4:NM_001243231:exon12:c.T1018G:p.L340V;TCF4:NM_003199:exon14:c.T1144G:p.L382V;TCF4:NM_001243230:exon13:c.T1135G:p.L379V;TCF4:NM_001243232:exon10:c.T931G:p.L311V;TCF4:NM_001083962:exon14:c.T1144G:p.L382V;TCF4:NM_001243227:exon13:c.T1072G:p.L358V;TCF4:NM_001243234:exon7:c.T664G:p.L222V;TCF4:NM_001243226:exon15:c.T1450G:p.L484V;TCF4:NM_001243228:exon14:c.T1162G:p.L388V;TCF4:NM_001243233:exon10:c.T754G:p.L252V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.T964G:p.L322V;ENSG00000196628:ENST00000561831:exon7:c.T664G:p.L222V;ENSG00000196628:ENST00000564999:exon14:c.T1144G:p.L382V;ENSG00000196628:ENST00000568740:exon13:c.T1069G:p.L357V;ENSG00000196628:ENST00000561992:exon10:c.T754G:p.L252V;ENSG00000196628:ENST00000565018:exon14:c.T1144G:p.L382V;ENSG00000196628:ENST00000354452:exon14:c.T1144G:p.L382V;ENSG00000196628:ENST00000566286:exon13:c.T1135G:p.L379V;ENSG00000196628:ENST00000356073:exon14:c.T1144G:p.L382V;ENSG00000196628:ENST00000543082:exon12:c.T1018G:p.L340V;ENSG00000196628:ENST00000570287:exon7:c.T664G:p.L222V;ENSG00000196628:ENST00000544241:exon10:c.T931G:p.L311V;ENSG00000196628:ENST00000537578:exon13:c.T1072G:p.L358V;ENSG00000196628:ENST00000564403:exon14:c.T1162G:p.L388V;ENSG00000196628:ENST00000570177:exon9:c.T754G:p.L252V;ENSG00000196628:ENST00000457482:exon7:c.T664G:p.L222V;ENSG00000196628:ENST00000568673:exon13:c.T1072G:p.L358V;ENSG00000196628:ENST00000540999:exon13:c.T1072G:p.L358V;ENSG00000196628:ENST00000537856:exon9:c.T754G:p.L252V;ENSG00000196628:ENST00000398339:exon15:c.T1450G:p.L484V;ENSG00000196628:ENST00000564228:exon10:c.T931G:p.L311V;ENSG00000196628:ENST00000567880:exon11:c.T964G:p.L322V;	0.0124673177939399	0.2
18	52924548	A	G	18	55257317	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon7:c.T664C:p.L222L;TCF4:NM_001243235:exon7:c.T664C:p.L222L;TCF4:NM_001243231:exon12:c.T1018C:p.L340L;TCF4:NM_003199:exon14:c.T1144C:p.L382L;TCF4:NM_001243230:exon13:c.T1135C:p.L379L;TCF4:NM_001243232:exon10:c.T931C:p.L311L;TCF4:NM_001083962:exon14:c.T1144C:p.L382L;TCF4:NM_001243227:exon13:c.T1072C:p.L358L;TCF4:NM_001243234:exon7:c.T664C:p.L222L;TCF4:NM_001243226:exon15:c.T1450C:p.L484L;TCF4:NM_001243228:exon14:c.T1162C:p.L388L;TCF4:NM_001243233:exon10:c.T754C:p.L252L;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.T964C:p.L322L;ENSG00000196628:ENST00000561831:exon7:c.T664C:p.L222L;ENSG00000196628:ENST00000564999:exon14:c.T1144C:p.L382L;ENSG00000196628:ENST00000568740:exon13:c.T1069C:p.L357L;ENSG00000196628:ENST00000561992:exon10:c.T754C:p.L252L;ENSG00000196628:ENST00000565018:exon14:c.T1144C:p.L382L;ENSG00000196628:ENST00000354452:exon14:c.T1144C:p.L382L;ENSG00000196628:ENST00000566286:exon13:c.T1135C:p.L379L;ENSG00000196628:ENST00000356073:exon14:c.T1144C:p.L382L;ENSG00000196628:ENST00000543082:exon12:c.T1018C:p.L340L;ENSG00000196628:ENST00000570287:exon7:c.T664C:p.L222L;ENSG00000196628:ENST00000544241:exon10:c.T931C:p.L311L;ENSG00000196628:ENST00000537578:exon13:c.T1072C:p.L358L;ENSG00000196628:ENST00000564403:exon14:c.T1162C:p.L388L;ENSG00000196628:ENST00000570177:exon9:c.T754C:p.L252L;ENSG00000196628:ENST00000457482:exon7:c.T664C:p.L222L;ENSG00000196628:ENST00000568673:exon13:c.T1072C:p.L358L;ENSG00000196628:ENST00000540999:exon13:c.T1072C:p.L358L;ENSG00000196628:ENST00000537856:exon9:c.T754C:p.L252L;ENSG00000196628:ENST00000398339:exon15:c.T1450C:p.L484L;ENSG00000196628:ENST00000564228:exon10:c.T931C:p.L311L;ENSG00000196628:ENST00000567880:exon11:c.T964C:p.L322L;	3.74365723968615E-4	0.062
18	52924548	A	T	18	55257317	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.T664A:p.L222M;TCF4:NM_001243235:exon7:c.T664A:p.L222M;TCF4:NM_001243231:exon12:c.T1018A:p.L340M;TCF4:NM_003199:exon14:c.T1144A:p.L382M;TCF4:NM_001243230:exon13:c.T1135A:p.L379M;TCF4:NM_001243232:exon10:c.T931A:p.L311M;TCF4:NM_001083962:exon14:c.T1144A:p.L382M;TCF4:NM_001243227:exon13:c.T1072A:p.L358M;TCF4:NM_001243234:exon7:c.T664A:p.L222M;TCF4:NM_001243226:exon15:c.T1450A:p.L484M;TCF4:NM_001243228:exon14:c.T1162A:p.L388M;TCF4:NM_001243233:exon10:c.T754A:p.L252M;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.T964A:p.L322M;ENSG00000196628:ENST00000561831:exon7:c.T664A:p.L222M;ENSG00000196628:ENST00000564999:exon14:c.T1144A:p.L382M;ENSG00000196628:ENST00000568740:exon13:c.T1069A:p.L357M;ENSG00000196628:ENST00000561992:exon10:c.T754A:p.L252M;ENSG00000196628:ENST00000565018:exon14:c.T1144A:p.L382M;ENSG00000196628:ENST00000354452:exon14:c.T1144A:p.L382M;ENSG00000196628:ENST00000566286:exon13:c.T1135A:p.L379M;ENSG00000196628:ENST00000356073:exon14:c.T1144A:p.L382M;ENSG00000196628:ENST00000543082:exon12:c.T1018A:p.L340M;ENSG00000196628:ENST00000570287:exon7:c.T664A:p.L222M;ENSG00000196628:ENST00000544241:exon10:c.T931A:p.L311M;ENSG00000196628:ENST00000537578:exon13:c.T1072A:p.L358M;ENSG00000196628:ENST00000564403:exon14:c.T1162A:p.L388M;ENSG00000196628:ENST00000570177:exon9:c.T754A:p.L252M;ENSG00000196628:ENST00000457482:exon7:c.T664A:p.L222M;ENSG00000196628:ENST00000568673:exon13:c.T1072A:p.L358M;ENSG00000196628:ENST00000540999:exon13:c.T1072A:p.L358M;ENSG00000196628:ENST00000537856:exon9:c.T754A:p.L252M;ENSG00000196628:ENST00000398339:exon15:c.T1450A:p.L484M;ENSG00000196628:ENST00000564228:exon10:c.T931A:p.L311M;ENSG00000196628:ENST00000567880:exon11:c.T964A:p.L322M;	0.0168724035745978	0.322
18	52924621	T	A	18	55257390	y	y	exonic;splicing	TCF4;TCF4(NM_001243230:exon14:c.1064-2A>T)	synonymous SNV	TCF4:NM_001243236:exon7:c.A591T:p.A197A;TCF4:NM_001243235:exon7:c.A591T:p.A197A;TCF4:NM_001243231:exon12:c.A945T:p.A315A;TCF4:NM_003199:exon14:c.A1071T:p.A357A;TCF4:NM_001243232:exon10:c.A858T:p.A286A;TCF4:NM_001083962:exon14:c.A1071T:p.A357A;TCF4:NM_001243227:exon13:c.A999T:p.A333A;TCF4:NM_001243234:exon7:c.A591T:p.A197A;TCF4:NM_001243226:exon15:c.A1377T:p.A459A;TCF4:NM_001243228:exon14:c.A1089T:p.A363A;TCF4:NM_001243233:exon10:c.A681T:p.A227A;	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000566286:exon14:c.1064-2A>T)	synonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.A891T:p.A297A;ENSG00000196628:ENST00000561831:exon7:c.A591T:p.A197A;ENSG00000196628:ENST00000564999:exon14:c.A1071T:p.A357A;ENSG00000196628:ENST00000568740:exon13:c.A996T:p.A332A;ENSG00000196628:ENST00000561992:exon10:c.A681T:p.A227A;ENSG00000196628:ENST00000565018:exon14:c.A1071T:p.A357A;ENSG00000196628:ENST00000354452:exon14:c.A1071T:p.A357A;ENSG00000196628:ENST00000356073:exon14:c.A1071T:p.A357A;ENSG00000196628:ENST00000543082:exon12:c.A945T:p.A315A;ENSG00000196628:ENST00000570287:exon7:c.A591T:p.A197A;ENSG00000196628:ENST00000544241:exon10:c.A858T:p.A286A;ENSG00000196628:ENST00000537578:exon13:c.A999T:p.A333A;ENSG00000196628:ENST00000564403:exon14:c.A1089T:p.A363A;ENSG00000196628:ENST00000570177:exon9:c.A681T:p.A227A;ENSG00000196628:ENST00000457482:exon7:c.A591T:p.A197A;ENSG00000196628:ENST00000568673:exon13:c.A999T:p.A333A;ENSG00000196628:ENST00000540999:exon13:c.A999T:p.A333A;ENSG00000196628:ENST00000537856:exon9:c.A681T:p.A227A;ENSG00000196628:ENST00000398339:exon15:c.A1377T:p.A459A;ENSG00000196628:ENST00000564228:exon10:c.A858T:p.A286A;ENSG00000196628:ENST00000567880:exon11:c.A891T:p.A297A;	0.941705586563381	0.798
18	52924621	T	C	18	55257390	y	y	exonic;splicing	TCF4;TCF4(NM_001243230:exon14:c.1064-2A>G)	synonymous SNV	TCF4:NM_001243236:exon7:c.A591G:p.A197A;TCF4:NM_001243235:exon7:c.A591G:p.A197A;TCF4:NM_001243231:exon12:c.A945G:p.A315A;TCF4:NM_003199:exon14:c.A1071G:p.A357A;TCF4:NM_001243232:exon10:c.A858G:p.A286A;TCF4:NM_001083962:exon14:c.A1071G:p.A357A;TCF4:NM_001243227:exon13:c.A999G:p.A333A;TCF4:NM_001243234:exon7:c.A591G:p.A197A;TCF4:NM_001243226:exon15:c.A1377G:p.A459A;TCF4:NM_001243228:exon14:c.A1089G:p.A363A;TCF4:NM_001243233:exon10:c.A681G:p.A227A;	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000566286:exon14:c.1064-2A>G)	synonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.A891G:p.A297A;ENSG00000196628:ENST00000561831:exon7:c.A591G:p.A197A;ENSG00000196628:ENST00000564999:exon14:c.A1071G:p.A357A;ENSG00000196628:ENST00000568740:exon13:c.A996G:p.A332A;ENSG00000196628:ENST00000561992:exon10:c.A681G:p.A227A;ENSG00000196628:ENST00000565018:exon14:c.A1071G:p.A357A;ENSG00000196628:ENST00000354452:exon14:c.A1071G:p.A357A;ENSG00000196628:ENST00000356073:exon14:c.A1071G:p.A357A;ENSG00000196628:ENST00000543082:exon12:c.A945G:p.A315A;ENSG00000196628:ENST00000570287:exon7:c.A591G:p.A197A;ENSG00000196628:ENST00000544241:exon10:c.A858G:p.A286A;ENSG00000196628:ENST00000537578:exon13:c.A999G:p.A333A;ENSG00000196628:ENST00000564403:exon14:c.A1089G:p.A363A;ENSG00000196628:ENST00000570177:exon9:c.A681G:p.A227A;ENSG00000196628:ENST00000457482:exon7:c.A591G:p.A197A;ENSG00000196628:ENST00000568673:exon13:c.A999G:p.A333A;ENSG00000196628:ENST00000540999:exon13:c.A999G:p.A333A;ENSG00000196628:ENST00000537856:exon9:c.A681G:p.A227A;ENSG00000196628:ENST00000398339:exon15:c.A1377G:p.A459A;ENSG00000196628:ENST00000564228:exon10:c.A858G:p.A286A;ENSG00000196628:ENST00000567880:exon11:c.A891G:p.A297A;	0.956264593331398	0.782
18	52924621	T	G	18	55257390	y	y	exonic;splicing	TCF4;TCF4(NM_001243230:exon14:c.1064-2A>C)	synonymous SNV	TCF4:NM_001243236:exon7:c.A591C:p.A197A;TCF4:NM_001243235:exon7:c.A591C:p.A197A;TCF4:NM_001243231:exon12:c.A945C:p.A315A;TCF4:NM_003199:exon14:c.A1071C:p.A357A;TCF4:NM_001243232:exon10:c.A858C:p.A286A;TCF4:NM_001083962:exon14:c.A1071C:p.A357A;TCF4:NM_001243227:exon13:c.A999C:p.A333A;TCF4:NM_001243234:exon7:c.A591C:p.A197A;TCF4:NM_001243226:exon15:c.A1377C:p.A459A;TCF4:NM_001243228:exon14:c.A1089C:p.A363A;TCF4:NM_001243233:exon10:c.A681C:p.A227A;	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000566286:exon14:c.1064-2A>C)	synonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.A891C:p.A297A;ENSG00000196628:ENST00000561831:exon7:c.A591C:p.A197A;ENSG00000196628:ENST00000564999:exon14:c.A1071C:p.A357A;ENSG00000196628:ENST00000568740:exon13:c.A996C:p.A332A;ENSG00000196628:ENST00000561992:exon10:c.A681C:p.A227A;ENSG00000196628:ENST00000565018:exon14:c.A1071C:p.A357A;ENSG00000196628:ENST00000354452:exon14:c.A1071C:p.A357A;ENSG00000196628:ENST00000356073:exon14:c.A1071C:p.A357A;ENSG00000196628:ENST00000543082:exon12:c.A945C:p.A315A;ENSG00000196628:ENST00000570287:exon7:c.A591C:p.A197A;ENSG00000196628:ENST00000544241:exon10:c.A858C:p.A286A;ENSG00000196628:ENST00000537578:exon13:c.A999C:p.A333A;ENSG00000196628:ENST00000564403:exon14:c.A1089C:p.A363A;ENSG00000196628:ENST00000570177:exon9:c.A681C:p.A227A;ENSG00000196628:ENST00000457482:exon7:c.A591C:p.A197A;ENSG00000196628:ENST00000568673:exon13:c.A999C:p.A333A;ENSG00000196628:ENST00000540999:exon13:c.A999C:p.A333A;ENSG00000196628:ENST00000537856:exon9:c.A681C:p.A227A;ENSG00000196628:ENST00000398339:exon15:c.A1377C:p.A459A;ENSG00000196628:ENST00000564228:exon10:c.A858C:p.A286A;ENSG00000196628:ENST00000567880:exon11:c.A891C:p.A297A;	0.94051226216402	0.846
18	52924622	G	A	18	55257391	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.C590T:p.A197V;TCF4:NM_001243235:exon7:c.C590T:p.A197V;TCF4:NM_001243231:exon12:c.C944T:p.A315V;TCF4:NM_003199:exon14:c.C1070T:p.A357V;TCF4:NM_001243232:exon10:c.C857T:p.A286V;TCF4:NM_001083962:exon14:c.C1070T:p.A357V;TCF4:NM_001243227:exon13:c.C998T:p.A333V;TCF4:NM_001243234:exon7:c.C590T:p.A197V;TCF4:NM_001243226:exon15:c.C1376T:p.A459V;TCF4:NM_001243228:exon14:c.C1088T:p.A363V;TCF4:NM_001243233:exon10:c.C680T:p.A227V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.C890T:p.A297V;ENSG00000196628:ENST00000561831:exon7:c.C590T:p.A197V;ENSG00000196628:ENST00000564999:exon14:c.C1070T:p.A357V;ENSG00000196628:ENST00000568740:exon13:c.C995T:p.A332V;ENSG00000196628:ENST00000561992:exon10:c.C680T:p.A227V;ENSG00000196628:ENST00000565018:exon14:c.C1070T:p.A357V;ENSG00000196628:ENST00000354452:exon14:c.C1070T:p.A357V;ENSG00000196628:ENST00000356073:exon14:c.C1070T:p.A357V;ENSG00000196628:ENST00000543082:exon12:c.C944T:p.A315V;ENSG00000196628:ENST00000570287:exon7:c.C590T:p.A197V;ENSG00000196628:ENST00000544241:exon10:c.C857T:p.A286V;ENSG00000196628:ENST00000537578:exon13:c.C998T:p.A333V;ENSG00000196628:ENST00000564403:exon14:c.C1088T:p.A363V;ENSG00000196628:ENST00000570177:exon9:c.C680T:p.A227V;ENSG00000196628:ENST00000457482:exon7:c.C590T:p.A197V;ENSG00000196628:ENST00000568673:exon13:c.C998T:p.A333V;ENSG00000196628:ENST00000540999:exon13:c.C998T:p.A333V;ENSG00000196628:ENST00000537856:exon9:c.C680T:p.A227V;ENSG00000196628:ENST00000398339:exon15:c.C1376T:p.A459V;ENSG00000196628:ENST00000564228:exon10:c.C857T:p.A286V;ENSG00000196628:ENST00000567880:exon11:c.C890T:p.A297V;	0.996546660232575	0.938
18	52924622	G	C	18	55257391	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.C590G:p.A197G;TCF4:NM_001243235:exon7:c.C590G:p.A197G;TCF4:NM_001243231:exon12:c.C944G:p.A315G;TCF4:NM_003199:exon14:c.C1070G:p.A357G;TCF4:NM_001243232:exon10:c.C857G:p.A286G;TCF4:NM_001083962:exon14:c.C1070G:p.A357G;TCF4:NM_001243227:exon13:c.C998G:p.A333G;TCF4:NM_001243234:exon7:c.C590G:p.A197G;TCF4:NM_001243226:exon15:c.C1376G:p.A459G;TCF4:NM_001243228:exon14:c.C1088G:p.A363G;TCF4:NM_001243233:exon10:c.C680G:p.A227G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.C890G:p.A297G;ENSG00000196628:ENST00000561831:exon7:c.C590G:p.A197G;ENSG00000196628:ENST00000564999:exon14:c.C1070G:p.A357G;ENSG00000196628:ENST00000568740:exon13:c.C995G:p.A332G;ENSG00000196628:ENST00000561992:exon10:c.C680G:p.A227G;ENSG00000196628:ENST00000565018:exon14:c.C1070G:p.A357G;ENSG00000196628:ENST00000354452:exon14:c.C1070G:p.A357G;ENSG00000196628:ENST00000356073:exon14:c.C1070G:p.A357G;ENSG00000196628:ENST00000543082:exon12:c.C944G:p.A315G;ENSG00000196628:ENST00000570287:exon7:c.C590G:p.A197G;ENSG00000196628:ENST00000544241:exon10:c.C857G:p.A286G;ENSG00000196628:ENST00000537578:exon13:c.C998G:p.A333G;ENSG00000196628:ENST00000564403:exon14:c.C1088G:p.A363G;ENSG00000196628:ENST00000570177:exon9:c.C680G:p.A227G;ENSG00000196628:ENST00000457482:exon7:c.C590G:p.A197G;ENSG00000196628:ENST00000568673:exon13:c.C998G:p.A333G;ENSG00000196628:ENST00000540999:exon13:c.C998G:p.A333G;ENSG00000196628:ENST00000537856:exon9:c.C680G:p.A227G;ENSG00000196628:ENST00000398339:exon15:c.C1376G:p.A459G;ENSG00000196628:ENST00000564228:exon10:c.C857G:p.A286G;ENSG00000196628:ENST00000567880:exon11:c.C890G:p.A297G;	0.979057912346748	0.764
18	52924622	G	T	18	55257391	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon7:c.C590A:p.A197E;TCF4:NM_001243235:exon7:c.C590A:p.A197E;TCF4:NM_001243231:exon12:c.C944A:p.A315E;TCF4:NM_003199:exon14:c.C1070A:p.A357E;TCF4:NM_001243232:exon10:c.C857A:p.A286E;TCF4:NM_001083962:exon14:c.C1070A:p.A357E;TCF4:NM_001243227:exon13:c.C998A:p.A333E;TCF4:NM_001243234:exon7:c.C590A:p.A197E;TCF4:NM_001243226:exon15:c.C1376A:p.A459E;TCF4:NM_001243228:exon14:c.C1088A:p.A363E;TCF4:NM_001243233:exon10:c.C680A:p.A227E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon12:c.C890A:p.A297E;ENSG00000196628:ENST00000561831:exon7:c.C590A:p.A197E;ENSG00000196628:ENST00000564999:exon14:c.C1070A:p.A357E;ENSG00000196628:ENST00000568740:exon13:c.C995A:p.A332E;ENSG00000196628:ENST00000561992:exon10:c.C680A:p.A227E;ENSG00000196628:ENST00000565018:exon14:c.C1070A:p.A357E;ENSG00000196628:ENST00000354452:exon14:c.C1070A:p.A357E;ENSG00000196628:ENST00000356073:exon14:c.C1070A:p.A357E;ENSG00000196628:ENST00000543082:exon12:c.C944A:p.A315E;ENSG00000196628:ENST00000570287:exon7:c.C590A:p.A197E;ENSG00000196628:ENST00000544241:exon10:c.C857A:p.A286E;ENSG00000196628:ENST00000537578:exon13:c.C998A:p.A333E;ENSG00000196628:ENST00000564403:exon14:c.C1088A:p.A363E;ENSG00000196628:ENST00000570177:exon9:c.C680A:p.A227E;ENSG00000196628:ENST00000457482:exon7:c.C590A:p.A197E;ENSG00000196628:ENST00000568673:exon13:c.C998A:p.A333E;ENSG00000196628:ENST00000540999:exon13:c.C998A:p.A333E;ENSG00000196628:ENST00000537856:exon9:c.C680A:p.A227E;ENSG00000196628:ENST00000398339:exon15:c.C1376A:p.A459E;ENSG00000196628:ENST00000564228:exon10:c.C857A:p.A286E;ENSG00000196628:ENST00000567880:exon11:c.C890A:p.A297E;	0.970762119209316	0.828
18	52924623	C	A	18	55257392	y	y	splicing	TCF4(NM_001243226:exon16:c.1376-1G>T;NM_001243234:exon8:c.590-1G>T;NM_001243232:exon11:c.857-1G>T;NM_001243236:exon8:c.590-1G>T;NM_001083962:exon15:c.1070-1G>T;NM_003199:exon15:c.1070-1G>T;NM_001243235:exon8:c.590-1G>T;NM_001243233:exon11:c.680-1G>T;NM_001243231:exon13:c.944-1G>T;NM_001243228:exon15:c.1088-1G>T;NM_001243227:exon14:c.998-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1070-1G>T;ENST00000356073:exon15:c.1070-1G>T;ENST00000568673:exon14:c.998-1G>T;ENST00000543082:exon13:c.944-1G>T;ENST00000457482:exon8:c.590-1G>T;ENST00000540999:exon14:c.998-1G>T;ENST00000537578:exon14:c.998-1G>T;ENST00000564999:exon15:c.1070-1G>T;ENST00000568740:exon14:c.995-1G>T;ENST00000537856:exon10:c.680-1G>T;ENST00000544241:exon11:c.857-1G>T;ENST00000561992:exon11:c.680-1G>T;ENST00000561831:exon8:c.590-1G>T;ENST00000565018:exon15:c.1070-1G>T;ENST00000566279:exon13:c.890-1G>T;ENST00000567880:exon12:c.890-1G>T;ENST00000564228:exon11:c.857-1G>T;ENST00000570287:exon8:c.590-1G>T;ENST00000398339:exon16:c.1376-1G>T;ENST00000564403:exon15:c.1088-1G>T;ENST00000570177:exon10:c.680-1G>T)	.	.	0.999980697831002	0.888
18	52924623	C	G	18	55257392	y	y	splicing	TCF4(NM_001243226:exon16:c.1376-1G>C;NM_001243234:exon8:c.590-1G>C;NM_001243232:exon11:c.857-1G>C;NM_001243236:exon8:c.590-1G>C;NM_001083962:exon15:c.1070-1G>C;NM_003199:exon15:c.1070-1G>C;NM_001243235:exon8:c.590-1G>C;NM_001243233:exon11:c.680-1G>C;NM_001243231:exon13:c.944-1G>C;NM_001243228:exon15:c.1088-1G>C;NM_001243227:exon14:c.998-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1070-1G>C;ENST00000356073:exon15:c.1070-1G>C;ENST00000568673:exon14:c.998-1G>C;ENST00000543082:exon13:c.944-1G>C;ENST00000457482:exon8:c.590-1G>C;ENST00000540999:exon14:c.998-1G>C;ENST00000537578:exon14:c.998-1G>C;ENST00000564999:exon15:c.1070-1G>C;ENST00000568740:exon14:c.995-1G>C;ENST00000537856:exon10:c.680-1G>C;ENST00000544241:exon11:c.857-1G>C;ENST00000561992:exon11:c.680-1G>C;ENST00000561831:exon8:c.590-1G>C;ENST00000565018:exon15:c.1070-1G>C;ENST00000566279:exon13:c.890-1G>C;ENST00000567880:exon12:c.890-1G>C;ENST00000564228:exon11:c.857-1G>C;ENST00000570287:exon8:c.590-1G>C;ENST00000398339:exon16:c.1376-1G>C;ENST00000564403:exon15:c.1088-1G>C;ENST00000570177:exon10:c.680-1G>C)	.	.	0.999980697831002	0.888
18	52924623	C	T	18	55257392	y	y	splicing	TCF4(NM_001243226:exon16:c.1376-1G>A;NM_001243234:exon8:c.590-1G>A;NM_001243232:exon11:c.857-1G>A;NM_001243236:exon8:c.590-1G>A;NM_001083962:exon15:c.1070-1G>A;NM_003199:exon15:c.1070-1G>A;NM_001243235:exon8:c.590-1G>A;NM_001243233:exon11:c.680-1G>A;NM_001243231:exon13:c.944-1G>A;NM_001243228:exon15:c.1088-1G>A;NM_001243227:exon14:c.998-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1070-1G>A;ENST00000356073:exon15:c.1070-1G>A;ENST00000568673:exon14:c.998-1G>A;ENST00000543082:exon13:c.944-1G>A;ENST00000457482:exon8:c.590-1G>A;ENST00000540999:exon14:c.998-1G>A;ENST00000537578:exon14:c.998-1G>A;ENST00000564999:exon15:c.1070-1G>A;ENST00000568740:exon14:c.995-1G>A;ENST00000537856:exon10:c.680-1G>A;ENST00000544241:exon11:c.857-1G>A;ENST00000561992:exon11:c.680-1G>A;ENST00000561831:exon8:c.590-1G>A;ENST00000565018:exon15:c.1070-1G>A;ENST00000566279:exon13:c.890-1G>A;ENST00000567880:exon12:c.890-1G>A;ENST00000564228:exon11:c.857-1G>A;ENST00000570287:exon8:c.590-1G>A;ENST00000398339:exon16:c.1376-1G>A;ENST00000564403:exon15:c.1088-1G>A;ENST00000570177:exon10:c.680-1G>A)	.	.	0.999980697831002	0.888
18	52924624	T	A	18	55257393	y	y	splicing	TCF4(NM_001243226:exon16:c.1376-2A>T;NM_001243234:exon8:c.590-2A>T;NM_001243232:exon11:c.857-2A>T;NM_001243236:exon8:c.590-2A>T;NM_001083962:exon15:c.1070-2A>T;NM_003199:exon15:c.1070-2A>T;NM_001243235:exon8:c.590-2A>T;NM_001243233:exon11:c.680-2A>T;NM_001243231:exon13:c.944-2A>T;NM_001243228:exon15:c.1088-2A>T;NM_001243227:exon14:c.998-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1070-2A>T;ENST00000356073:exon15:c.1070-2A>T;ENST00000568673:exon14:c.998-2A>T;ENST00000543082:exon13:c.944-2A>T;ENST00000457482:exon8:c.590-2A>T;ENST00000540999:exon14:c.998-2A>T;ENST00000537578:exon14:c.998-2A>T;ENST00000564999:exon15:c.1070-2A>T;ENST00000568740:exon14:c.995-2A>T;ENST00000537856:exon10:c.680-2A>T;ENST00000544241:exon11:c.857-2A>T;ENST00000561992:exon11:c.680-2A>T;ENST00000561831:exon8:c.590-2A>T;ENST00000565018:exon15:c.1070-2A>T;ENST00000566279:exon13:c.890-2A>T;ENST00000567880:exon12:c.890-2A>T;ENST00000564228:exon11:c.857-2A>T;ENST00000570287:exon8:c.590-2A>T;ENST00000398339:exon16:c.1376-2A>T;ENST00000564403:exon15:c.1088-2A>T;ENST00000570177:exon10:c.680-2A>T)	.	.	0.999933834912627	0.894
18	52924624	T	C	18	55257393	y	y	splicing	TCF4(NM_001243226:exon16:c.1376-2A>G;NM_001243234:exon8:c.590-2A>G;NM_001243232:exon11:c.857-2A>G;NM_001243236:exon8:c.590-2A>G;NM_001083962:exon15:c.1070-2A>G;NM_003199:exon15:c.1070-2A>G;NM_001243235:exon8:c.590-2A>G;NM_001243233:exon11:c.680-2A>G;NM_001243231:exon13:c.944-2A>G;NM_001243228:exon15:c.1088-2A>G;NM_001243227:exon14:c.998-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1070-2A>G;ENST00000356073:exon15:c.1070-2A>G;ENST00000568673:exon14:c.998-2A>G;ENST00000543082:exon13:c.944-2A>G;ENST00000457482:exon8:c.590-2A>G;ENST00000540999:exon14:c.998-2A>G;ENST00000537578:exon14:c.998-2A>G;ENST00000564999:exon15:c.1070-2A>G;ENST00000568740:exon14:c.995-2A>G;ENST00000537856:exon10:c.680-2A>G;ENST00000544241:exon11:c.857-2A>G;ENST00000561992:exon11:c.680-2A>G;ENST00000561831:exon8:c.590-2A>G;ENST00000565018:exon15:c.1070-2A>G;ENST00000566279:exon13:c.890-2A>G;ENST00000567880:exon12:c.890-2A>G;ENST00000564228:exon11:c.857-2A>G;ENST00000570287:exon8:c.590-2A>G;ENST00000398339:exon16:c.1376-2A>G;ENST00000564403:exon15:c.1088-2A>G;ENST00000570177:exon10:c.680-2A>G)	.	.	0.999933834912627	0.894
18	52924624	T	G	18	55257393	y	y	splicing	TCF4(NM_001243226:exon16:c.1376-2A>C;NM_001243234:exon8:c.590-2A>C;NM_001243232:exon11:c.857-2A>C;NM_001243236:exon8:c.590-2A>C;NM_001083962:exon15:c.1070-2A>C;NM_003199:exon15:c.1070-2A>C;NM_001243235:exon8:c.590-2A>C;NM_001243233:exon11:c.680-2A>C;NM_001243231:exon13:c.944-2A>C;NM_001243228:exon15:c.1088-2A>C;NM_001243227:exon14:c.998-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon15:c.1070-2A>C;ENST00000356073:exon15:c.1070-2A>C;ENST00000568673:exon14:c.998-2A>C;ENST00000543082:exon13:c.944-2A>C;ENST00000457482:exon8:c.590-2A>C;ENST00000540999:exon14:c.998-2A>C;ENST00000537578:exon14:c.998-2A>C;ENST00000564999:exon15:c.1070-2A>C;ENST00000568740:exon14:c.995-2A>C;ENST00000537856:exon10:c.680-2A>C;ENST00000544241:exon11:c.857-2A>C;ENST00000561992:exon11:c.680-2A>C;ENST00000561831:exon8:c.590-2A>C;ENST00000565018:exon15:c.1070-2A>C;ENST00000566279:exon13:c.890-2A>C;ENST00000567880:exon12:c.890-2A>C;ENST00000564228:exon11:c.857-2A>C;ENST00000570287:exon8:c.590-2A>C;ENST00000398339:exon16:c.1376-2A>C;ENST00000564403:exon15:c.1088-2A>C;ENST00000570177:exon10:c.680-2A>C)	.	.	0.999933834912627	0.894
18	52924625	G	A	18	55257394	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.104384493919601	0.356
18	52924625	G	C	18	55257394	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999879068129597	0.876
18	52924625	G	T	18	55257394	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.994671112667651	0.886
18	52924626	A	C	18	55257395	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.997478087042757	0.94
18	52924626	A	G	18	55257395	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.91907523771403E-4	0.006
18	52924626	A	T	18	55257395	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00172529038841921	0.076
18	52924627	T	A	18	55257396	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19832105499011E-5	0.024
18	52924627	T	C	18	55257396	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00191689930960125	0.076
18	52924627	T	G	18	55257396	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.58437988395649E-5	0.024
18	52924628	A	C	18	55257397	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999512307205105	0.922
18	52924628	A	G	18	55257397	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00427801539125402	0.156
18	52924628	A	T	18	55257397	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.538227983283955	0.708
18	52924629	T	A	18	55257398	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.17614661234526E-4	0.046
18	52924629	T	C	18	55257398	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999183279516293	0.844
18	52924629	T	G	18	55257398	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.94439473767675E-5	0.05
18	52924630	T	A	18	55257399	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.78778391337756E-5	0.034
18	52924630	T	C	18	55257399	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.47002005037575E-4	0.066
18	52924630	T	G	18	55257399	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.60720172846531E-5	0.018
18	52924631	A	C	18	55257400	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.80391106601424	0.58
18	52924631	A	G	18	55257400	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.32539145204882E-4	0.064
18	52924631	A	T	18	55257400	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.761368094384139	0.562
18	52924632	A	C	18	55257401	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.989966142086514	0.85
18	52924632	A	G	18	55257401	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00180642074151599	0.144
18	52924632	A	T	18	55257401	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99140880686778	0.838
18	52924633	A	C	18	55257402	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.985293060366247	0.774
18	52924633	A	G	18	55257402	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.522481265774926	0.642
18	52924633	A	T	18	55257402	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.987288570034799	0.794
18	52924634	G	A	18	55257403	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.28996008238153E-5	0.128
18	52924634	G	C	18	55257403	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998630095438043	0.91
18	52924634	G	T	18	55257403	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.79076212928505E-4	0.21
18	52927172	T	A	18	55259941	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	2.10605928308798E-4	0.018
18	52927172	T	C	18	55259941	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	1.71039524201317E-4	0.006
18	52927172	T	G	18	55259941	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	2.10605928308798E-4	0.008
18	52927173	A	C	18	55259942	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.00572299973050704	0.064
18	52927173	A	G	18	55259942	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.00572299973050704	0.062
18	52927173	A	T	18	55259942	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.0199704164377379	0.108
18	52927174	C	A	18	55259943	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.00827460570322332	0.138
18	52927174	C	G	18	55259943	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.0327695415481379	0.284
18	52927174	C	T	18	55259943	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.0103907952262671	0.162
18	52927175	A	C	18	55259944	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	4.13505729832061E-4	0.036
18	52927175	A	G	18	55259944	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	2.04005052908658E-4	0.042
18	52927175	A	T	18	55259944	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	2.92776495584126E-4	0.014
18	52927176	C	A	18	55259945	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	4.15895858903316E-4	0.102
18	52927176	C	G	18	55259945	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.00111721650178816	0.414
18	52927176	C	T	18	55259945	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	4.40177371951751E-4	0.042
18	52927177	T	A	18	55259946	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.999958286342951	0.982
18	52927177	T	C	18	55259946	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.99961824858791	0.954
18	52927177	T	G	18	55259946	y	n	intronic	TCF4	.	.	exonic	ENSG00000196628	unknown	UNKNOWN	0.999912682128662	0.902
18	52927178	A	C	18	55259947	y	n	splicing	TCF4(NM_001243226:exon15:c.1375+2T>G;NM_001243230:exon13:c.1063+2T>G;NM_001243234:exon7:c.589+2T>G;NM_001243232:exon10:c.856+2T>G;NM_001243236:exon7:c.589+2T>G;NM_001083962:exon14:c.1069+2T>G;NM_003199:exon14:c.1069+2T>G;NM_001243235:exon7:c.589+2T>G;NM_001243233:exon10:c.679+2T>G;NM_001243231:exon12:c.943+2T>G;NM_001243228:exon14:c.1087+2T>G;NM_001243227:exon13:c.997+2T>G)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon14:c.1069+2T>G;ENST00000356073:exon14:c.1069+2T>G;ENST00000568673:exon13:c.997+2T>G;ENST00000543082:exon12:c.943+2T>G;ENST00000457482:exon7:c.589+2T>G;ENST00000540999:exon13:c.997+2T>G;ENST00000537578:exon13:c.997+2T>G;ENST00000564999:exon14:c.1069+2T>G;ENST00000568740:exon13:c.994+2T>G;ENST00000537856:exon9:c.679+2T>G;ENST00000544241:exon10:c.856+2T>G;ENST00000561992:exon10:c.679+2T>G;ENST00000561831:exon7:c.589+2T>G;ENST00000565018:exon14:c.1069+2T>G;ENST00000566279:exon12:c.889+2T>G;ENST00000566286:exon13:c.1063+2T>G;ENST00000567880:exon11:c.889+2T>G;ENST00000564228:exon10:c.856+2T>G;ENST00000570287:exon7:c.589+2T>G;ENST00000398339:exon15:c.1375+2T>G;ENST00000564403:exon14:c.1087+2T>G;ENST00000570177:exon9:c.679+2T>G)	unknown	UNKNOWN	0.999988247793601	0.95
18	52927178	A	G	18	55259947	y	n	splicing	TCF4(NM_001243226:exon15:c.1375+2T>C;NM_001243230:exon13:c.1063+2T>C;NM_001243234:exon7:c.589+2T>C;NM_001243232:exon10:c.856+2T>C;NM_001243236:exon7:c.589+2T>C;NM_001083962:exon14:c.1069+2T>C;NM_003199:exon14:c.1069+2T>C;NM_001243235:exon7:c.589+2T>C;NM_001243233:exon10:c.679+2T>C;NM_001243231:exon12:c.943+2T>C;NM_001243228:exon14:c.1087+2T>C;NM_001243227:exon13:c.997+2T>C)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon14:c.1069+2T>C;ENST00000356073:exon14:c.1069+2T>C;ENST00000568673:exon13:c.997+2T>C;ENST00000543082:exon12:c.943+2T>C;ENST00000457482:exon7:c.589+2T>C;ENST00000540999:exon13:c.997+2T>C;ENST00000537578:exon13:c.997+2T>C;ENST00000564999:exon14:c.1069+2T>C;ENST00000568740:exon13:c.994+2T>C;ENST00000537856:exon9:c.679+2T>C;ENST00000544241:exon10:c.856+2T>C;ENST00000561992:exon10:c.679+2T>C;ENST00000561831:exon7:c.589+2T>C;ENST00000565018:exon14:c.1069+2T>C;ENST00000566279:exon12:c.889+2T>C;ENST00000566286:exon13:c.1063+2T>C;ENST00000567880:exon11:c.889+2T>C;ENST00000564228:exon10:c.856+2T>C;ENST00000570287:exon7:c.589+2T>C;ENST00000398339:exon15:c.1375+2T>C;ENST00000564403:exon14:c.1087+2T>C;ENST00000570177:exon9:c.679+2T>C)	unknown	UNKNOWN	0.995320650369382	0.716
18	52927178	A	T	18	55259947	y	n	splicing	TCF4(NM_001243226:exon15:c.1375+2T>A;NM_001243230:exon13:c.1063+2T>A;NM_001243234:exon7:c.589+2T>A;NM_001243232:exon10:c.856+2T>A;NM_001243236:exon7:c.589+2T>A;NM_001083962:exon14:c.1069+2T>A;NM_003199:exon14:c.1069+2T>A;NM_001243235:exon7:c.589+2T>A;NM_001243233:exon10:c.679+2T>A;NM_001243231:exon12:c.943+2T>A;NM_001243228:exon14:c.1087+2T>A;NM_001243227:exon13:c.997+2T>A)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon14:c.1069+2T>A;ENST00000356073:exon14:c.1069+2T>A;ENST00000568673:exon13:c.997+2T>A;ENST00000543082:exon12:c.943+2T>A;ENST00000457482:exon7:c.589+2T>A;ENST00000540999:exon13:c.997+2T>A;ENST00000537578:exon13:c.997+2T>A;ENST00000564999:exon14:c.1069+2T>A;ENST00000568740:exon13:c.994+2T>A;ENST00000537856:exon9:c.679+2T>A;ENST00000544241:exon10:c.856+2T>A;ENST00000561992:exon10:c.679+2T>A;ENST00000561831:exon7:c.589+2T>A;ENST00000565018:exon14:c.1069+2T>A;ENST00000566279:exon12:c.889+2T>A;ENST00000566286:exon13:c.1063+2T>A;ENST00000567880:exon11:c.889+2T>A;ENST00000564228:exon10:c.856+2T>A;ENST00000570287:exon7:c.589+2T>A;ENST00000398339:exon15:c.1375+2T>A;ENST00000564403:exon14:c.1087+2T>A;ENST00000570177:exon9:c.679+2T>A)	unknown	UNKNOWN	0.999988247793601	0.95
18	52927179	C	A	18	55259948	y	n	splicing	TCF4(NM_001243226:exon15:c.1375+1G>T;NM_001243230:exon13:c.1063+1G>T;NM_001243234:exon7:c.589+1G>T;NM_001243232:exon10:c.856+1G>T;NM_001243236:exon7:c.589+1G>T;NM_001083962:exon14:c.1069+1G>T;NM_003199:exon14:c.1069+1G>T;NM_001243235:exon7:c.589+1G>T;NM_001243233:exon10:c.679+1G>T;NM_001243231:exon12:c.943+1G>T;NM_001243228:exon14:c.1087+1G>T;NM_001243227:exon13:c.997+1G>T)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon14:c.1069+1G>T;ENST00000356073:exon14:c.1069+1G>T;ENST00000568673:exon13:c.997+1G>T;ENST00000543082:exon12:c.943+1G>T;ENST00000457482:exon7:c.589+1G>T;ENST00000540999:exon13:c.997+1G>T;ENST00000537578:exon13:c.997+1G>T;ENST00000564999:exon14:c.1069+1G>T;ENST00000568740:exon13:c.994+1G>T;ENST00000537856:exon9:c.679+1G>T;ENST00000544241:exon10:c.856+1G>T;ENST00000561992:exon10:c.679+1G>T;ENST00000561831:exon7:c.589+1G>T;ENST00000565018:exon14:c.1069+1G>T;ENST00000566279:exon12:c.889+1G>T;ENST00000566286:exon13:c.1063+1G>T;ENST00000567880:exon11:c.889+1G>T;ENST00000564228:exon10:c.856+1G>T;ENST00000570287:exon7:c.589+1G>T;ENST00000398339:exon15:c.1375+1G>T;ENST00000564403:exon14:c.1087+1G>T;ENST00000570177:exon9:c.679+1G>T)	unknown	UNKNOWN	0.999990361384395	0.948
18	52927179	C	G	18	55259948	y	n	splicing	TCF4(NM_001243226:exon15:c.1375+1G>C;NM_001243230:exon13:c.1063+1G>C;NM_001243234:exon7:c.589+1G>C;NM_001243232:exon10:c.856+1G>C;NM_001243236:exon7:c.589+1G>C;NM_001083962:exon14:c.1069+1G>C;NM_003199:exon14:c.1069+1G>C;NM_001243235:exon7:c.589+1G>C;NM_001243233:exon10:c.679+1G>C;NM_001243231:exon12:c.943+1G>C;NM_001243228:exon14:c.1087+1G>C;NM_001243227:exon13:c.997+1G>C)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon14:c.1069+1G>C;ENST00000356073:exon14:c.1069+1G>C;ENST00000568673:exon13:c.997+1G>C;ENST00000543082:exon12:c.943+1G>C;ENST00000457482:exon7:c.589+1G>C;ENST00000540999:exon13:c.997+1G>C;ENST00000537578:exon13:c.997+1G>C;ENST00000564999:exon14:c.1069+1G>C;ENST00000568740:exon13:c.994+1G>C;ENST00000537856:exon9:c.679+1G>C;ENST00000544241:exon10:c.856+1G>C;ENST00000561992:exon10:c.679+1G>C;ENST00000561831:exon7:c.589+1G>C;ENST00000565018:exon14:c.1069+1G>C;ENST00000566279:exon12:c.889+1G>C;ENST00000566286:exon13:c.1063+1G>C;ENST00000567880:exon11:c.889+1G>C;ENST00000564228:exon10:c.856+1G>C;ENST00000570287:exon7:c.589+1G>C;ENST00000398339:exon15:c.1375+1G>C;ENST00000564403:exon14:c.1087+1G>C;ENST00000570177:exon9:c.679+1G>C)	unknown	UNKNOWN	0.999990361384395	0.948
18	52927179	C	T	18	55259948	y	n	splicing	TCF4(NM_001243226:exon15:c.1375+1G>A;NM_001243230:exon13:c.1063+1G>A;NM_001243234:exon7:c.589+1G>A;NM_001243232:exon10:c.856+1G>A;NM_001243236:exon7:c.589+1G>A;NM_001083962:exon14:c.1069+1G>A;NM_003199:exon14:c.1069+1G>A;NM_001243235:exon7:c.589+1G>A;NM_001243233:exon10:c.679+1G>A;NM_001243231:exon12:c.943+1G>A;NM_001243228:exon14:c.1087+1G>A;NM_001243227:exon13:c.997+1G>A)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon14:c.1069+1G>A;ENST00000356073:exon14:c.1069+1G>A;ENST00000568673:exon13:c.997+1G>A;ENST00000543082:exon12:c.943+1G>A;ENST00000457482:exon7:c.589+1G>A;ENST00000540999:exon13:c.997+1G>A;ENST00000537578:exon13:c.997+1G>A;ENST00000564999:exon14:c.1069+1G>A;ENST00000568740:exon13:c.994+1G>A;ENST00000537856:exon9:c.679+1G>A;ENST00000544241:exon10:c.856+1G>A;ENST00000561992:exon10:c.679+1G>A;ENST00000561831:exon7:c.589+1G>A;ENST00000565018:exon14:c.1069+1G>A;ENST00000566279:exon12:c.889+1G>A;ENST00000566286:exon13:c.1063+1G>A;ENST00000567880:exon11:c.889+1G>A;ENST00000564228:exon10:c.856+1G>A;ENST00000570287:exon7:c.589+1G>A;ENST00000398339:exon15:c.1375+1G>A;ENST00000564403:exon14:c.1087+1G>A;ENST00000570177:exon9:c.679+1G>A)	unknown	UNKNOWN	0.999990361384395	0.948
18	52927180	C	A	18	55259949	y	n	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.G589T:p.A197S;TCF4:NM_001243235:exon6:c.G589T:p.A197S;TCF4:NM_001243231:exon11:c.G943T:p.A315S;TCF4:NM_003199:exon13:c.G1069T:p.A357S;TCF4:NM_001243230:exon12:c.G1063T:p.G355C;TCF4:NM_001243232:exon9:c.G856T:p.A286S;TCF4:NM_001083962:exon13:c.G1069T:p.A357S;TCF4:NM_001243227:exon12:c.G997T:p.A333S;TCF4:NM_001243234:exon6:c.G589T:p.A197S;TCF4:NM_001243226:exon14:c.G1375T:p.A459S;TCF4:NM_001243228:exon13:c.G1087T:p.A363S;TCF4:NM_001243233:exon9:c.G679T:p.A227S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.G889T:p.A297S;ENSG00000196628:ENST00000561831:exon6:c.G589T:p.A197S;ENSG00000196628:ENST00000564999:exon13:c.G1069T:p.A357S;ENSG00000196628:ENST00000568740:exon12:c.G994T:p.A332S;ENSG00000196628:ENST00000561992:exon9:c.G679T:p.A227S;ENSG00000196628:ENST00000565018:exon13:c.G1069T:p.A357S;ENSG00000196628:ENST00000354452:exon13:c.G1069T:p.A357S;ENSG00000196628:ENST00000566286:exon12:c.G1063T:p.G355C;ENSG00000196628:ENST00000356073:exon13:c.G1069T:p.A357S;ENSG00000196628:ENST00000543082:exon11:c.G943T:p.A315S;ENSG00000196628:ENST00000570287:exon6:c.G589T:p.A197S;ENSG00000196628:ENST00000544241:exon9:c.G856T:p.A286S;ENSG00000196628:ENST00000537578:exon12:c.G997T:p.A333S;ENSG00000196628:ENST00000564403:exon13:c.G1087T:p.A363S;ENSG00000196628:ENST00000570177:exon8:c.G679T:p.A227S;ENSG00000196628:ENST00000457482:exon6:c.G589T:p.A197S;ENSG00000196628:ENST00000568673:exon12:c.G997T:p.A333S;ENSG00000196628:ENST00000540999:exon12:c.G997T:p.A333S;ENSG00000196628:ENST00000537856:exon8:c.G679T:p.A227S;ENSG00000196628:ENST00000398339:exon14:c.G1375T:p.A459S;ENSG00000196628:ENST00000564228:exon9:c.G856T:p.A286S;ENSG00000196628:ENST00000567880:exon10:c.G889T:p.A297S;	0.999994342005323	1.0
18	52927180	C	G	18	55259949	y	n	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.G589C:p.A197P;TCF4:NM_001243235:exon6:c.G589C:p.A197P;TCF4:NM_001243231:exon11:c.G943C:p.A315P;TCF4:NM_003199:exon13:c.G1069C:p.A357P;TCF4:NM_001243230:exon12:c.G1063C:p.G355R;TCF4:NM_001243232:exon9:c.G856C:p.A286P;TCF4:NM_001083962:exon13:c.G1069C:p.A357P;TCF4:NM_001243227:exon12:c.G997C:p.A333P;TCF4:NM_001243234:exon6:c.G589C:p.A197P;TCF4:NM_001243226:exon14:c.G1375C:p.A459P;TCF4:NM_001243228:exon13:c.G1087C:p.A363P;TCF4:NM_001243233:exon9:c.G679C:p.A227P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.G889C:p.A297P;ENSG00000196628:ENST00000561831:exon6:c.G589C:p.A197P;ENSG00000196628:ENST00000564999:exon13:c.G1069C:p.A357P;ENSG00000196628:ENST00000568740:exon12:c.G994C:p.A332P;ENSG00000196628:ENST00000561992:exon9:c.G679C:p.A227P;ENSG00000196628:ENST00000565018:exon13:c.G1069C:p.A357P;ENSG00000196628:ENST00000354452:exon13:c.G1069C:p.A357P;ENSG00000196628:ENST00000566286:exon12:c.G1063C:p.G355R;ENSG00000196628:ENST00000356073:exon13:c.G1069C:p.A357P;ENSG00000196628:ENST00000543082:exon11:c.G943C:p.A315P;ENSG00000196628:ENST00000570287:exon6:c.G589C:p.A197P;ENSG00000196628:ENST00000544241:exon9:c.G856C:p.A286P;ENSG00000196628:ENST00000537578:exon12:c.G997C:p.A333P;ENSG00000196628:ENST00000564403:exon13:c.G1087C:p.A363P;ENSG00000196628:ENST00000570177:exon8:c.G679C:p.A227P;ENSG00000196628:ENST00000457482:exon6:c.G589C:p.A197P;ENSG00000196628:ENST00000568673:exon12:c.G997C:p.A333P;ENSG00000196628:ENST00000540999:exon12:c.G997C:p.A333P;ENSG00000196628:ENST00000537856:exon8:c.G679C:p.A227P;ENSG00000196628:ENST00000398339:exon14:c.G1375C:p.A459P;ENSG00000196628:ENST00000564228:exon9:c.G856C:p.A286P;ENSG00000196628:ENST00000567880:exon10:c.G889C:p.A297P;	0.999997360428448	1.0
18	52927180	C	T	18	55259949	y	n	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.G589A:p.A197T;TCF4:NM_001243235:exon6:c.G589A:p.A197T;TCF4:NM_001243231:exon11:c.G943A:p.A315T;TCF4:NM_003199:exon13:c.G1069A:p.A357T;TCF4:NM_001243230:exon12:c.G1063A:p.G355S;TCF4:NM_001243232:exon9:c.G856A:p.A286T;TCF4:NM_001083962:exon13:c.G1069A:p.A357T;TCF4:NM_001243227:exon12:c.G997A:p.A333T;TCF4:NM_001243234:exon6:c.G589A:p.A197T;TCF4:NM_001243226:exon14:c.G1375A:p.A459T;TCF4:NM_001243228:exon13:c.G1087A:p.A363T;TCF4:NM_001243233:exon9:c.G679A:p.A227T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.G889A:p.A297T;ENSG00000196628:ENST00000561831:exon6:c.G589A:p.A197T;ENSG00000196628:ENST00000564999:exon13:c.G1069A:p.A357T;ENSG00000196628:ENST00000568740:exon12:c.G994A:p.A332T;ENSG00000196628:ENST00000561992:exon9:c.G679A:p.A227T;ENSG00000196628:ENST00000565018:exon13:c.G1069A:p.A357T;ENSG00000196628:ENST00000354452:exon13:c.G1069A:p.A357T;ENSG00000196628:ENST00000566286:exon12:c.G1063A:p.G355S;ENSG00000196628:ENST00000356073:exon13:c.G1069A:p.A357T;ENSG00000196628:ENST00000543082:exon11:c.G943A:p.A315T;ENSG00000196628:ENST00000570287:exon6:c.G589A:p.A197T;ENSG00000196628:ENST00000544241:exon9:c.G856A:p.A286T;ENSG00000196628:ENST00000537578:exon12:c.G997A:p.A333T;ENSG00000196628:ENST00000564403:exon13:c.G1087A:p.A363T;ENSG00000196628:ENST00000570177:exon8:c.G679A:p.A227T;ENSG00000196628:ENST00000457482:exon6:c.G589A:p.A197T;ENSG00000196628:ENST00000568673:exon12:c.G997A:p.A333T;ENSG00000196628:ENST00000540999:exon12:c.G997A:p.A333T;ENSG00000196628:ENST00000537856:exon8:c.G679A:p.A227T;ENSG00000196628:ENST00000398339:exon14:c.G1375A:p.A459T;ENSG00000196628:ENST00000564228:exon9:c.G856A:p.A286T;ENSG00000196628:ENST00000567880:exon10:c.G889A:p.A297T;	0.999990979113977	1.0
18	52927181	T	A	18	55259950	y	n	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon6:c.A588T:p.S196S;TCF4:NM_001243235:exon6:c.A588T:p.S196S;TCF4:NM_001243231:exon11:c.A942T:p.S314S;TCF4:NM_003199:exon13:c.A1068T:p.S356S;TCF4:NM_001243230:exon12:c.A1062T:p.S354S;TCF4:NM_001243232:exon9:c.A855T:p.S285S;TCF4:NM_001083962:exon13:c.A1068T:p.S356S;TCF4:NM_001243227:exon12:c.A996T:p.S332S;TCF4:NM_001243234:exon6:c.A588T:p.S196S;TCF4:NM_001243226:exon14:c.A1374T:p.S458S;TCF4:NM_001243228:exon13:c.A1086T:p.S362S;TCF4:NM_001243233:exon9:c.A678T:p.S226S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.A888T:p.S296S;ENSG00000196628:ENST00000561831:exon6:c.A588T:p.S196S;ENSG00000196628:ENST00000564999:exon13:c.A1068T:p.S356S;ENSG00000196628:ENST00000568740:exon12:c.A993T:p.S331S;ENSG00000196628:ENST00000561992:exon9:c.A678T:p.S226S;ENSG00000196628:ENST00000565018:exon13:c.A1068T:p.S356S;ENSG00000196628:ENST00000354452:exon13:c.A1068T:p.S356S;ENSG00000196628:ENST00000566286:exon12:c.A1062T:p.S354S;ENSG00000196628:ENST00000356073:exon13:c.A1068T:p.S356S;ENSG00000196628:ENST00000543082:exon11:c.A942T:p.S314S;ENSG00000196628:ENST00000570287:exon6:c.A588T:p.S196S;ENSG00000196628:ENST00000544241:exon9:c.A855T:p.S285S;ENSG00000196628:ENST00000537578:exon12:c.A996T:p.S332S;ENSG00000196628:ENST00000564403:exon13:c.A1086T:p.S362S;ENSG00000196628:ENST00000570177:exon8:c.A678T:p.S226S;ENSG00000196628:ENST00000457482:exon6:c.A588T:p.S196S;ENSG00000196628:ENST00000568673:exon12:c.A996T:p.S332S;ENSG00000196628:ENST00000540999:exon12:c.A996T:p.S332S;ENSG00000196628:ENST00000537856:exon8:c.A678T:p.S226S;ENSG00000196628:ENST00000398339:exon14:c.A1374T:p.S458S;ENSG00000196628:ENST00000564228:exon9:c.A855T:p.S285S;ENSG00000196628:ENST00000567880:exon10:c.A888T:p.S296S;	0.999979787756726	1.0
18	52927181	T	C	18	55259950	y	n	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon6:c.A588G:p.S196S;TCF4:NM_001243235:exon6:c.A588G:p.S196S;TCF4:NM_001243231:exon11:c.A942G:p.S314S;TCF4:NM_003199:exon13:c.A1068G:p.S356S;TCF4:NM_001243230:exon12:c.A1062G:p.S354S;TCF4:NM_001243232:exon9:c.A855G:p.S285S;TCF4:NM_001083962:exon13:c.A1068G:p.S356S;TCF4:NM_001243227:exon12:c.A996G:p.S332S;TCF4:NM_001243234:exon6:c.A588G:p.S196S;TCF4:NM_001243226:exon14:c.A1374G:p.S458S;TCF4:NM_001243228:exon13:c.A1086G:p.S362S;TCF4:NM_001243233:exon9:c.A678G:p.S226S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.A888G:p.S296S;ENSG00000196628:ENST00000561831:exon6:c.A588G:p.S196S;ENSG00000196628:ENST00000564999:exon13:c.A1068G:p.S356S;ENSG00000196628:ENST00000568740:exon12:c.A993G:p.S331S;ENSG00000196628:ENST00000561992:exon9:c.A678G:p.S226S;ENSG00000196628:ENST00000565018:exon13:c.A1068G:p.S356S;ENSG00000196628:ENST00000354452:exon13:c.A1068G:p.S356S;ENSG00000196628:ENST00000566286:exon12:c.A1062G:p.S354S;ENSG00000196628:ENST00000356073:exon13:c.A1068G:p.S356S;ENSG00000196628:ENST00000543082:exon11:c.A942G:p.S314S;ENSG00000196628:ENST00000570287:exon6:c.A588G:p.S196S;ENSG00000196628:ENST00000544241:exon9:c.A855G:p.S285S;ENSG00000196628:ENST00000537578:exon12:c.A996G:p.S332S;ENSG00000196628:ENST00000564403:exon13:c.A1086G:p.S362S;ENSG00000196628:ENST00000570177:exon8:c.A678G:p.S226S;ENSG00000196628:ENST00000457482:exon6:c.A588G:p.S196S;ENSG00000196628:ENST00000568673:exon12:c.A996G:p.S332S;ENSG00000196628:ENST00000540999:exon12:c.A996G:p.S332S;ENSG00000196628:ENST00000537856:exon8:c.A678G:p.S226S;ENSG00000196628:ENST00000398339:exon14:c.A1374G:p.S458S;ENSG00000196628:ENST00000564228:exon9:c.A855G:p.S285S;ENSG00000196628:ENST00000567880:exon10:c.A888G:p.S296S;	0.999959308436147	0.998
18	52927181	T	G	18	55259950	y	n	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon6:c.A588C:p.S196S;TCF4:NM_001243235:exon6:c.A588C:p.S196S;TCF4:NM_001243231:exon11:c.A942C:p.S314S;TCF4:NM_003199:exon13:c.A1068C:p.S356S;TCF4:NM_001243230:exon12:c.A1062C:p.S354S;TCF4:NM_001243232:exon9:c.A855C:p.S285S;TCF4:NM_001083962:exon13:c.A1068C:p.S356S;TCF4:NM_001243227:exon12:c.A996C:p.S332S;TCF4:NM_001243234:exon6:c.A588C:p.S196S;TCF4:NM_001243226:exon14:c.A1374C:p.S458S;TCF4:NM_001243228:exon13:c.A1086C:p.S362S;TCF4:NM_001243233:exon9:c.A678C:p.S226S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.A888C:p.S296S;ENSG00000196628:ENST00000561831:exon6:c.A588C:p.S196S;ENSG00000196628:ENST00000564999:exon13:c.A1068C:p.S356S;ENSG00000196628:ENST00000568740:exon12:c.A993C:p.S331S;ENSG00000196628:ENST00000561992:exon9:c.A678C:p.S226S;ENSG00000196628:ENST00000565018:exon13:c.A1068C:p.S356S;ENSG00000196628:ENST00000354452:exon13:c.A1068C:p.S356S;ENSG00000196628:ENST00000566286:exon12:c.A1062C:p.S354S;ENSG00000196628:ENST00000356073:exon13:c.A1068C:p.S356S;ENSG00000196628:ENST00000543082:exon11:c.A942C:p.S314S;ENSG00000196628:ENST00000570287:exon6:c.A588C:p.S196S;ENSG00000196628:ENST00000544241:exon9:c.A855C:p.S285S;ENSG00000196628:ENST00000537578:exon12:c.A996C:p.S332S;ENSG00000196628:ENST00000564403:exon13:c.A1086C:p.S362S;ENSG00000196628:ENST00000570177:exon8:c.A678C:p.S226S;ENSG00000196628:ENST00000457482:exon6:c.A588C:p.S196S;ENSG00000196628:ENST00000568673:exon12:c.A996C:p.S332S;ENSG00000196628:ENST00000540999:exon12:c.A996C:p.S332S;ENSG00000196628:ENST00000537856:exon8:c.A678C:p.S226S;ENSG00000196628:ENST00000398339:exon14:c.A1374C:p.S458S;ENSG00000196628:ENST00000564228:exon9:c.A855C:p.S285S;ENSG00000196628:ENST00000567880:exon10:c.A888C:p.S296S;	0.999971293161739	0.998
18	52927182	G	A	18	55259951	y	n	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.C587T:p.S196L;TCF4:NM_001243235:exon6:c.C587T:p.S196L;TCF4:NM_001243231:exon11:c.C941T:p.S314L;TCF4:NM_003199:exon13:c.C1067T:p.S356L;TCF4:NM_001243230:exon12:c.C1061T:p.S354L;TCF4:NM_001243232:exon9:c.C854T:p.S285L;TCF4:NM_001083962:exon13:c.C1067T:p.S356L;TCF4:NM_001243227:exon12:c.C995T:p.S332L;TCF4:NM_001243234:exon6:c.C587T:p.S196L;TCF4:NM_001243226:exon14:c.C1373T:p.S458L;TCF4:NM_001243228:exon13:c.C1085T:p.S362L;TCF4:NM_001243233:exon9:c.C677T:p.S226L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.C887T:p.S296L;ENSG00000196628:ENST00000561831:exon6:c.C587T:p.S196L;ENSG00000196628:ENST00000564999:exon13:c.C1067T:p.S356L;ENSG00000196628:ENST00000568740:exon12:c.C992T:p.S331L;ENSG00000196628:ENST00000561992:exon9:c.C677T:p.S226L;ENSG00000196628:ENST00000565018:exon13:c.C1067T:p.S356L;ENSG00000196628:ENST00000354452:exon13:c.C1067T:p.S356L;ENSG00000196628:ENST00000566286:exon12:c.C1061T:p.S354L;ENSG00000196628:ENST00000356073:exon13:c.C1067T:p.S356L;ENSG00000196628:ENST00000543082:exon11:c.C941T:p.S314L;ENSG00000196628:ENST00000570287:exon6:c.C587T:p.S196L;ENSG00000196628:ENST00000544241:exon9:c.C854T:p.S285L;ENSG00000196628:ENST00000537578:exon12:c.C995T:p.S332L;ENSG00000196628:ENST00000564403:exon13:c.C1085T:p.S362L;ENSG00000196628:ENST00000570177:exon8:c.C677T:p.S226L;ENSG00000196628:ENST00000457482:exon6:c.C587T:p.S196L;ENSG00000196628:ENST00000568673:exon12:c.C995T:p.S332L;ENSG00000196628:ENST00000540999:exon12:c.C995T:p.S332L;ENSG00000196628:ENST00000537856:exon8:c.C677T:p.S226L;ENSG00000196628:ENST00000398339:exon14:c.C1373T:p.S458L;ENSG00000196628:ENST00000564228:exon9:c.C854T:p.S285L;ENSG00000196628:ENST00000567880:exon10:c.C887T:p.S296L;	0.999919922083202	0.994
18	52927182	G	C	18	55259951	y	n	exonic	TCF4	stopgain SNV	TCF4:NM_001243236:exon6:c.C587G:p.S196X;TCF4:NM_001243235:exon6:c.C587G:p.S196X;TCF4:NM_001243231:exon11:c.C941G:p.S314X;TCF4:NM_003199:exon13:c.C1067G:p.S356X;TCF4:NM_001243230:exon12:c.C1061G:p.S354X;TCF4:NM_001243232:exon9:c.C854G:p.S285X;TCF4:NM_001083962:exon13:c.C1067G:p.S356X;TCF4:NM_001243227:exon12:c.C995G:p.S332X;TCF4:NM_001243234:exon6:c.C587G:p.S196X;TCF4:NM_001243226:exon14:c.C1373G:p.S458X;TCF4:NM_001243228:exon13:c.C1085G:p.S362X;TCF4:NM_001243233:exon9:c.C677G:p.S226X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon11:c.C887G:p.S296X;ENSG00000196628:ENST00000561831:exon6:c.C587G:p.S196X;ENSG00000196628:ENST00000564999:exon13:c.C1067G:p.S356X;ENSG00000196628:ENST00000568740:exon12:c.C992G:p.S331X;ENSG00000196628:ENST00000561992:exon9:c.C677G:p.S226X;ENSG00000196628:ENST00000565018:exon13:c.C1067G:p.S356X;ENSG00000196628:ENST00000354452:exon13:c.C1067G:p.S356X;ENSG00000196628:ENST00000566286:exon12:c.C1061G:p.S354X;ENSG00000196628:ENST00000356073:exon13:c.C1067G:p.S356X;ENSG00000196628:ENST00000543082:exon11:c.C941G:p.S314X;ENSG00000196628:ENST00000570287:exon6:c.C587G:p.S196X;ENSG00000196628:ENST00000544241:exon9:c.C854G:p.S285X;ENSG00000196628:ENST00000537578:exon12:c.C995G:p.S332X;ENSG00000196628:ENST00000564403:exon13:c.C1085G:p.S362X;ENSG00000196628:ENST00000570177:exon8:c.C677G:p.S226X;ENSG00000196628:ENST00000457482:exon6:c.C587G:p.S196X;ENSG00000196628:ENST00000568673:exon12:c.C995G:p.S332X;ENSG00000196628:ENST00000540999:exon12:c.C995G:p.S332X;ENSG00000196628:ENST00000537856:exon8:c.C677G:p.S226X;ENSG00000196628:ENST00000398339:exon14:c.C1373G:p.S458X;ENSG00000196628:ENST00000564228:exon9:c.C854G:p.S285X;ENSG00000196628:ENST00000567880:exon10:c.C887G:p.S296X;	0.989046438854875	0.758
18	52927182	G	T	18	55259951	y	n	exonic	TCF4	stopgain SNV	TCF4:NM_001243236:exon6:c.C587A:p.S196X;TCF4:NM_001243235:exon6:c.C587A:p.S196X;TCF4:NM_001243231:exon11:c.C941A:p.S314X;TCF4:NM_003199:exon13:c.C1067A:p.S356X;TCF4:NM_001243230:exon12:c.C1061A:p.S354X;TCF4:NM_001243232:exon9:c.C854A:p.S285X;TCF4:NM_001083962:exon13:c.C1067A:p.S356X;TCF4:NM_001243227:exon12:c.C995A:p.S332X;TCF4:NM_001243234:exon6:c.C587A:p.S196X;TCF4:NM_001243226:exon14:c.C1373A:p.S458X;TCF4:NM_001243228:exon13:c.C1085A:p.S362X;TCF4:NM_001243233:exon9:c.C677A:p.S226X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon11:c.C887A:p.S296X;ENSG00000196628:ENST00000561831:exon6:c.C587A:p.S196X;ENSG00000196628:ENST00000564999:exon13:c.C1067A:p.S356X;ENSG00000196628:ENST00000568740:exon12:c.C992A:p.S331X;ENSG00000196628:ENST00000561992:exon9:c.C677A:p.S226X;ENSG00000196628:ENST00000565018:exon13:c.C1067A:p.S356X;ENSG00000196628:ENST00000354452:exon13:c.C1067A:p.S356X;ENSG00000196628:ENST00000566286:exon12:c.C1061A:p.S354X;ENSG00000196628:ENST00000356073:exon13:c.C1067A:p.S356X;ENSG00000196628:ENST00000543082:exon11:c.C941A:p.S314X;ENSG00000196628:ENST00000570287:exon6:c.C587A:p.S196X;ENSG00000196628:ENST00000544241:exon9:c.C854A:p.S285X;ENSG00000196628:ENST00000537578:exon12:c.C995A:p.S332X;ENSG00000196628:ENST00000564403:exon13:c.C1085A:p.S362X;ENSG00000196628:ENST00000570177:exon8:c.C677A:p.S226X;ENSG00000196628:ENST00000457482:exon6:c.C587A:p.S196X;ENSG00000196628:ENST00000568673:exon12:c.C995A:p.S332X;ENSG00000196628:ENST00000540999:exon12:c.C995A:p.S332X;ENSG00000196628:ENST00000537856:exon8:c.C677A:p.S226X;ENSG00000196628:ENST00000398339:exon14:c.C1373A:p.S458X;ENSG00000196628:ENST00000564228:exon9:c.C854A:p.S285X;ENSG00000196628:ENST00000567880:exon10:c.C887A:p.S296X;	0.984128575522011	0.816
18	52927257	A	C	18	55260026	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.T512G:p.I171S;TCF4:NM_001243235:exon6:c.T512G:p.I171S;TCF4:NM_001243231:exon11:c.T866G:p.I289S;TCF4:NM_003199:exon13:c.T992G:p.I331S;TCF4:NM_001243230:exon12:c.T986G:p.I329S;TCF4:NM_001243232:exon9:c.T779G:p.I260S;TCF4:NM_001083962:exon13:c.T992G:p.I331S;TCF4:NM_001243227:exon12:c.T920G:p.I307S;TCF4:NM_001243234:exon6:c.T512G:p.I171S;TCF4:NM_001243226:exon14:c.T1298G:p.I433S;TCF4:NM_001243228:exon13:c.T1010G:p.I337S;TCF4:NM_001243233:exon9:c.T602G:p.I201S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.T812G:p.I271S;ENSG00000196628:ENST00000561831:exon6:c.T512G:p.I171S;ENSG00000196628:ENST00000564999:exon13:c.T992G:p.I331S;ENSG00000196628:ENST00000568740:exon12:c.T917G:p.I306S;ENSG00000196628:ENST00000561992:exon9:c.T602G:p.I201S;ENSG00000196628:ENST00000565018:exon13:c.T992G:p.I331S;ENSG00000196628:ENST00000354452:exon13:c.T992G:p.I331S;ENSG00000196628:ENST00000566286:exon12:c.T986G:p.I329S;ENSG00000196628:ENST00000356073:exon13:c.T992G:p.I331S;ENSG00000196628:ENST00000543082:exon11:c.T866G:p.I289S;ENSG00000196628:ENST00000570287:exon6:c.T512G:p.I171S;ENSG00000196628:ENST00000544241:exon9:c.T779G:p.I260S;ENSG00000196628:ENST00000537578:exon12:c.T920G:p.I307S;ENSG00000196628:ENST00000564403:exon13:c.T1010G:p.I337S;ENSG00000196628:ENST00000570177:exon8:c.T602G:p.I201S;ENSG00000196628:ENST00000457482:exon6:c.T512G:p.I171S;ENSG00000196628:ENST00000568673:exon12:c.T920G:p.I307S;ENSG00000196628:ENST00000540999:exon12:c.T920G:p.I307S;ENSG00000196628:ENST00000537856:exon8:c.T602G:p.I201S;ENSG00000196628:ENST00000398339:exon14:c.T1298G:p.I433S;ENSG00000196628:ENST00000564228:exon9:c.T779G:p.I260S;ENSG00000196628:ENST00000567880:exon10:c.T812G:p.I271S;	0.875360734658649	0.546
18	52927257	A	G	18	55260026	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.T512C:p.I171T;TCF4:NM_001243235:exon6:c.T512C:p.I171T;TCF4:NM_001243231:exon11:c.T866C:p.I289T;TCF4:NM_003199:exon13:c.T992C:p.I331T;TCF4:NM_001243230:exon12:c.T986C:p.I329T;TCF4:NM_001243232:exon9:c.T779C:p.I260T;TCF4:NM_001083962:exon13:c.T992C:p.I331T;TCF4:NM_001243227:exon12:c.T920C:p.I307T;TCF4:NM_001243234:exon6:c.T512C:p.I171T;TCF4:NM_001243226:exon14:c.T1298C:p.I433T;TCF4:NM_001243228:exon13:c.T1010C:p.I337T;TCF4:NM_001243233:exon9:c.T602C:p.I201T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.T812C:p.I271T;ENSG00000196628:ENST00000561831:exon6:c.T512C:p.I171T;ENSG00000196628:ENST00000564999:exon13:c.T992C:p.I331T;ENSG00000196628:ENST00000568740:exon12:c.T917C:p.I306T;ENSG00000196628:ENST00000561992:exon9:c.T602C:p.I201T;ENSG00000196628:ENST00000565018:exon13:c.T992C:p.I331T;ENSG00000196628:ENST00000354452:exon13:c.T992C:p.I331T;ENSG00000196628:ENST00000566286:exon12:c.T986C:p.I329T;ENSG00000196628:ENST00000356073:exon13:c.T992C:p.I331T;ENSG00000196628:ENST00000543082:exon11:c.T866C:p.I289T;ENSG00000196628:ENST00000570287:exon6:c.T512C:p.I171T;ENSG00000196628:ENST00000544241:exon9:c.T779C:p.I260T;ENSG00000196628:ENST00000537578:exon12:c.T920C:p.I307T;ENSG00000196628:ENST00000564403:exon13:c.T1010C:p.I337T;ENSG00000196628:ENST00000570177:exon8:c.T602C:p.I201T;ENSG00000196628:ENST00000457482:exon6:c.T512C:p.I171T;ENSG00000196628:ENST00000568673:exon12:c.T920C:p.I307T;ENSG00000196628:ENST00000540999:exon12:c.T920C:p.I307T;ENSG00000196628:ENST00000537856:exon8:c.T602C:p.I201T;ENSG00000196628:ENST00000398339:exon14:c.T1298C:p.I433T;ENSG00000196628:ENST00000564228:exon9:c.T779C:p.I260T;ENSG00000196628:ENST00000567880:exon10:c.T812C:p.I271T;	0.886738731180159	0.58
18	52927257	A	T	18	55260026	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.T512A:p.I171N;TCF4:NM_001243235:exon6:c.T512A:p.I171N;TCF4:NM_001243231:exon11:c.T866A:p.I289N;TCF4:NM_003199:exon13:c.T992A:p.I331N;TCF4:NM_001243230:exon12:c.T986A:p.I329N;TCF4:NM_001243232:exon9:c.T779A:p.I260N;TCF4:NM_001083962:exon13:c.T992A:p.I331N;TCF4:NM_001243227:exon12:c.T920A:p.I307N;TCF4:NM_001243234:exon6:c.T512A:p.I171N;TCF4:NM_001243226:exon14:c.T1298A:p.I433N;TCF4:NM_001243228:exon13:c.T1010A:p.I337N;TCF4:NM_001243233:exon9:c.T602A:p.I201N;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.T812A:p.I271N;ENSG00000196628:ENST00000561831:exon6:c.T512A:p.I171N;ENSG00000196628:ENST00000564999:exon13:c.T992A:p.I331N;ENSG00000196628:ENST00000568740:exon12:c.T917A:p.I306N;ENSG00000196628:ENST00000561992:exon9:c.T602A:p.I201N;ENSG00000196628:ENST00000565018:exon13:c.T992A:p.I331N;ENSG00000196628:ENST00000354452:exon13:c.T992A:p.I331N;ENSG00000196628:ENST00000566286:exon12:c.T986A:p.I329N;ENSG00000196628:ENST00000356073:exon13:c.T992A:p.I331N;ENSG00000196628:ENST00000543082:exon11:c.T866A:p.I289N;ENSG00000196628:ENST00000570287:exon6:c.T512A:p.I171N;ENSG00000196628:ENST00000544241:exon9:c.T779A:p.I260N;ENSG00000196628:ENST00000537578:exon12:c.T920A:p.I307N;ENSG00000196628:ENST00000564403:exon13:c.T1010A:p.I337N;ENSG00000196628:ENST00000570177:exon8:c.T602A:p.I201N;ENSG00000196628:ENST00000457482:exon6:c.T512A:p.I171N;ENSG00000196628:ENST00000568673:exon12:c.T920A:p.I307N;ENSG00000196628:ENST00000540999:exon12:c.T920A:p.I307N;ENSG00000196628:ENST00000537856:exon8:c.T602A:p.I201N;ENSG00000196628:ENST00000398339:exon14:c.T1298A:p.I433N;ENSG00000196628:ENST00000564228:exon9:c.T779A:p.I260N;ENSG00000196628:ENST00000567880:exon10:c.T812A:p.I271N;	0.877586385475201	0.57
18	52927258	T	A	18	55260027	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.A511T:p.I171F;TCF4:NM_001243235:exon6:c.A511T:p.I171F;TCF4:NM_001243231:exon11:c.A865T:p.I289F;TCF4:NM_003199:exon13:c.A991T:p.I331F;TCF4:NM_001243230:exon12:c.A985T:p.I329F;TCF4:NM_001243232:exon9:c.A778T:p.I260F;TCF4:NM_001083962:exon13:c.A991T:p.I331F;TCF4:NM_001243227:exon12:c.A919T:p.I307F;TCF4:NM_001243234:exon6:c.A511T:p.I171F;TCF4:NM_001243226:exon14:c.A1297T:p.I433F;TCF4:NM_001243228:exon13:c.A1009T:p.I337F;TCF4:NM_001243233:exon9:c.A601T:p.I201F;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.A811T:p.I271F;ENSG00000196628:ENST00000561831:exon6:c.A511T:p.I171F;ENSG00000196628:ENST00000564999:exon13:c.A991T:p.I331F;ENSG00000196628:ENST00000568740:exon12:c.A916T:p.I306F;ENSG00000196628:ENST00000561992:exon9:c.A601T:p.I201F;ENSG00000196628:ENST00000565018:exon13:c.A991T:p.I331F;ENSG00000196628:ENST00000354452:exon13:c.A991T:p.I331F;ENSG00000196628:ENST00000566286:exon12:c.A985T:p.I329F;ENSG00000196628:ENST00000356073:exon13:c.A991T:p.I331F;ENSG00000196628:ENST00000543082:exon11:c.A865T:p.I289F;ENSG00000196628:ENST00000570287:exon6:c.A511T:p.I171F;ENSG00000196628:ENST00000544241:exon9:c.A778T:p.I260F;ENSG00000196628:ENST00000537578:exon12:c.A919T:p.I307F;ENSG00000196628:ENST00000564403:exon13:c.A1009T:p.I337F;ENSG00000196628:ENST00000570177:exon8:c.A601T:p.I201F;ENSG00000196628:ENST00000457482:exon6:c.A511T:p.I171F;ENSG00000196628:ENST00000568673:exon12:c.A919T:p.I307F;ENSG00000196628:ENST00000540999:exon12:c.A919T:p.I307F;ENSG00000196628:ENST00000537856:exon8:c.A601T:p.I201F;ENSG00000196628:ENST00000398339:exon14:c.A1297T:p.I433F;ENSG00000196628:ENST00000564228:exon9:c.A778T:p.I260F;ENSG00000196628:ENST00000567880:exon10:c.A811T:p.I271F;	0.870902137419426	0.578
18	52927258	T	C	18	55260027	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.A511G:p.I171V;TCF4:NM_001243235:exon6:c.A511G:p.I171V;TCF4:NM_001243231:exon11:c.A865G:p.I289V;TCF4:NM_003199:exon13:c.A991G:p.I331V;TCF4:NM_001243230:exon12:c.A985G:p.I329V;TCF4:NM_001243232:exon9:c.A778G:p.I260V;TCF4:NM_001083962:exon13:c.A991G:p.I331V;TCF4:NM_001243227:exon12:c.A919G:p.I307V;TCF4:NM_001243234:exon6:c.A511G:p.I171V;TCF4:NM_001243226:exon14:c.A1297G:p.I433V;TCF4:NM_001243228:exon13:c.A1009G:p.I337V;TCF4:NM_001243233:exon9:c.A601G:p.I201V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.A811G:p.I271V;ENSG00000196628:ENST00000561831:exon6:c.A511G:p.I171V;ENSG00000196628:ENST00000564999:exon13:c.A991G:p.I331V;ENSG00000196628:ENST00000568740:exon12:c.A916G:p.I306V;ENSG00000196628:ENST00000561992:exon9:c.A601G:p.I201V;ENSG00000196628:ENST00000565018:exon13:c.A991G:p.I331V;ENSG00000196628:ENST00000354452:exon13:c.A991G:p.I331V;ENSG00000196628:ENST00000566286:exon12:c.A985G:p.I329V;ENSG00000196628:ENST00000356073:exon13:c.A991G:p.I331V;ENSG00000196628:ENST00000543082:exon11:c.A865G:p.I289V;ENSG00000196628:ENST00000570287:exon6:c.A511G:p.I171V;ENSG00000196628:ENST00000544241:exon9:c.A778G:p.I260V;ENSG00000196628:ENST00000537578:exon12:c.A919G:p.I307V;ENSG00000196628:ENST00000564403:exon13:c.A1009G:p.I337V;ENSG00000196628:ENST00000570177:exon8:c.A601G:p.I201V;ENSG00000196628:ENST00000457482:exon6:c.A511G:p.I171V;ENSG00000196628:ENST00000568673:exon12:c.A919G:p.I307V;ENSG00000196628:ENST00000540999:exon12:c.A919G:p.I307V;ENSG00000196628:ENST00000537856:exon8:c.A601G:p.I201V;ENSG00000196628:ENST00000398339:exon14:c.A1297G:p.I433V;ENSG00000196628:ENST00000564228:exon9:c.A778G:p.I260V;ENSG00000196628:ENST00000567880:exon10:c.A811G:p.I271V;	0.720529420118802	0.62
18	52927258	T	G	18	55260027	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon6:c.A511C:p.I171L;TCF4:NM_001243235:exon6:c.A511C:p.I171L;TCF4:NM_001243231:exon11:c.A865C:p.I289L;TCF4:NM_003199:exon13:c.A991C:p.I331L;TCF4:NM_001243230:exon12:c.A985C:p.I329L;TCF4:NM_001243232:exon9:c.A778C:p.I260L;TCF4:NM_001083962:exon13:c.A991C:p.I331L;TCF4:NM_001243227:exon12:c.A919C:p.I307L;TCF4:NM_001243234:exon6:c.A511C:p.I171L;TCF4:NM_001243226:exon14:c.A1297C:p.I433L;TCF4:NM_001243228:exon13:c.A1009C:p.I337L;TCF4:NM_001243233:exon9:c.A601C:p.I201L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon11:c.A811C:p.I271L;ENSG00000196628:ENST00000561831:exon6:c.A511C:p.I171L;ENSG00000196628:ENST00000564999:exon13:c.A991C:p.I331L;ENSG00000196628:ENST00000568740:exon12:c.A916C:p.I306L;ENSG00000196628:ENST00000561992:exon9:c.A601C:p.I201L;ENSG00000196628:ENST00000565018:exon13:c.A991C:p.I331L;ENSG00000196628:ENST00000354452:exon13:c.A991C:p.I331L;ENSG00000196628:ENST00000566286:exon12:c.A985C:p.I329L;ENSG00000196628:ENST00000356073:exon13:c.A991C:p.I331L;ENSG00000196628:ENST00000543082:exon11:c.A865C:p.I289L;ENSG00000196628:ENST00000570287:exon6:c.A511C:p.I171L;ENSG00000196628:ENST00000544241:exon9:c.A778C:p.I260L;ENSG00000196628:ENST00000537578:exon12:c.A919C:p.I307L;ENSG00000196628:ENST00000564403:exon13:c.A1009C:p.I337L;ENSG00000196628:ENST00000570177:exon8:c.A601C:p.I201L;ENSG00000196628:ENST00000457482:exon6:c.A511C:p.I171L;ENSG00000196628:ENST00000568673:exon12:c.A919C:p.I307L;ENSG00000196628:ENST00000540999:exon12:c.A919C:p.I307L;ENSG00000196628:ENST00000537856:exon8:c.A601C:p.I201L;ENSG00000196628:ENST00000398339:exon14:c.A1297C:p.I433L;ENSG00000196628:ENST00000564228:exon9:c.A778C:p.I260L;ENSG00000196628:ENST00000567880:exon10:c.A811C:p.I271L;	0.895738240621619	0.62
18	52927259	C	A	18	55260028	y	y	splicing	TCF4(NM_001243226:exon15:c.1297-1G>T;NM_001243230:exon13:c.985-1G>T;NM_001243234:exon7:c.511-1G>T;NM_001243232:exon10:c.778-1G>T;NM_001243236:exon7:c.511-1G>T;NM_001083962:exon14:c.991-1G>T;NM_003199:exon14:c.991-1G>T;NM_001243235:exon7:c.511-1G>T;NM_001243233:exon10:c.601-1G>T;NM_001243231:exon12:c.865-1G>T;NM_001243228:exon14:c.1009-1G>T;NM_001243227:exon13:c.919-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon14:c.991-1G>T;ENST00000356073:exon14:c.991-1G>T;ENST00000568673:exon13:c.919-1G>T;ENST00000543082:exon12:c.865-1G>T;ENST00000457482:exon7:c.511-1G>T;ENST00000540999:exon13:c.919-1G>T;ENST00000537578:exon13:c.919-1G>T;ENST00000564999:exon14:c.991-1G>T;ENST00000568740:exon13:c.916-1G>T;ENST00000537856:exon9:c.601-1G>T;ENST00000544241:exon10:c.778-1G>T;ENST00000561992:exon10:c.601-1G>T;ENST00000561831:exon7:c.511-1G>T;ENST00000565018:exon14:c.991-1G>T;ENST00000566279:exon12:c.811-1G>T;ENST00000566286:exon13:c.985-1G>T;ENST00000567880:exon11:c.811-1G>T;ENST00000564228:exon10:c.778-1G>T;ENST00000570287:exon7:c.511-1G>T;ENST00000398339:exon15:c.1297-1G>T;ENST00000564403:exon14:c.1009-1G>T;ENST00000570177:exon9:c.601-1G>T;ENST00000570146:exon5:c.255-1G>T)	.	.	0.999990361384395	0.948
18	52927259	C	G	18	55260028	y	y	splicing	TCF4(NM_001243226:exon15:c.1297-1G>C;NM_001243230:exon13:c.985-1G>C;NM_001243234:exon7:c.511-1G>C;NM_001243232:exon10:c.778-1G>C;NM_001243236:exon7:c.511-1G>C;NM_001083962:exon14:c.991-1G>C;NM_003199:exon14:c.991-1G>C;NM_001243235:exon7:c.511-1G>C;NM_001243233:exon10:c.601-1G>C;NM_001243231:exon12:c.865-1G>C;NM_001243228:exon14:c.1009-1G>C;NM_001243227:exon13:c.919-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon14:c.991-1G>C;ENST00000356073:exon14:c.991-1G>C;ENST00000568673:exon13:c.919-1G>C;ENST00000543082:exon12:c.865-1G>C;ENST00000457482:exon7:c.511-1G>C;ENST00000540999:exon13:c.919-1G>C;ENST00000537578:exon13:c.919-1G>C;ENST00000564999:exon14:c.991-1G>C;ENST00000568740:exon13:c.916-1G>C;ENST00000537856:exon9:c.601-1G>C;ENST00000544241:exon10:c.778-1G>C;ENST00000561992:exon10:c.601-1G>C;ENST00000561831:exon7:c.511-1G>C;ENST00000565018:exon14:c.991-1G>C;ENST00000566279:exon12:c.811-1G>C;ENST00000566286:exon13:c.985-1G>C;ENST00000567880:exon11:c.811-1G>C;ENST00000564228:exon10:c.778-1G>C;ENST00000570287:exon7:c.511-1G>C;ENST00000398339:exon15:c.1297-1G>C;ENST00000564403:exon14:c.1009-1G>C;ENST00000570177:exon9:c.601-1G>C;ENST00000570146:exon5:c.255-1G>C)	.	.	0.999990361384395	0.948
18	52927259	C	T	18	55260028	y	y	splicing	TCF4(NM_001243226:exon15:c.1297-1G>A;NM_001243230:exon13:c.985-1G>A;NM_001243234:exon7:c.511-1G>A;NM_001243232:exon10:c.778-1G>A;NM_001243236:exon7:c.511-1G>A;NM_001083962:exon14:c.991-1G>A;NM_003199:exon14:c.991-1G>A;NM_001243235:exon7:c.511-1G>A;NM_001243233:exon10:c.601-1G>A;NM_001243231:exon12:c.865-1G>A;NM_001243228:exon14:c.1009-1G>A;NM_001243227:exon13:c.919-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon14:c.991-1G>A;ENST00000356073:exon14:c.991-1G>A;ENST00000568673:exon13:c.919-1G>A;ENST00000543082:exon12:c.865-1G>A;ENST00000457482:exon7:c.511-1G>A;ENST00000540999:exon13:c.919-1G>A;ENST00000537578:exon13:c.919-1G>A;ENST00000564999:exon14:c.991-1G>A;ENST00000568740:exon13:c.916-1G>A;ENST00000537856:exon9:c.601-1G>A;ENST00000544241:exon10:c.778-1G>A;ENST00000561992:exon10:c.601-1G>A;ENST00000561831:exon7:c.511-1G>A;ENST00000565018:exon14:c.991-1G>A;ENST00000566279:exon12:c.811-1G>A;ENST00000566286:exon13:c.985-1G>A;ENST00000567880:exon11:c.811-1G>A;ENST00000564228:exon10:c.778-1G>A;ENST00000570287:exon7:c.511-1G>A;ENST00000398339:exon15:c.1297-1G>A;ENST00000564403:exon14:c.1009-1G>A;ENST00000570177:exon9:c.601-1G>A;ENST00000570146:exon5:c.255-1G>A)	.	.	0.999990361384395	0.948
18	52927260	T	A	18	55260029	y	y	splicing	TCF4(NM_001243226:exon15:c.1297-2A>T;NM_001243230:exon13:c.985-2A>T;NM_001243234:exon7:c.511-2A>T;NM_001243232:exon10:c.778-2A>T;NM_001243236:exon7:c.511-2A>T;NM_001083962:exon14:c.991-2A>T;NM_003199:exon14:c.991-2A>T;NM_001243235:exon7:c.511-2A>T;NM_001243233:exon10:c.601-2A>T;NM_001243231:exon12:c.865-2A>T;NM_001243228:exon14:c.1009-2A>T;NM_001243227:exon13:c.919-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon14:c.991-2A>T;ENST00000356073:exon14:c.991-2A>T;ENST00000568673:exon13:c.919-2A>T;ENST00000543082:exon12:c.865-2A>T;ENST00000457482:exon7:c.511-2A>T;ENST00000540999:exon13:c.919-2A>T;ENST00000537578:exon13:c.919-2A>T;ENST00000564999:exon14:c.991-2A>T;ENST00000568740:exon13:c.916-2A>T;ENST00000537856:exon9:c.601-2A>T;ENST00000544241:exon10:c.778-2A>T;ENST00000561992:exon10:c.601-2A>T;ENST00000561831:exon7:c.511-2A>T;ENST00000565018:exon14:c.991-2A>T;ENST00000566279:exon12:c.811-2A>T;ENST00000566286:exon13:c.985-2A>T;ENST00000567880:exon11:c.811-2A>T;ENST00000564228:exon10:c.778-2A>T;ENST00000570287:exon7:c.511-2A>T;ENST00000398339:exon15:c.1297-2A>T;ENST00000564403:exon14:c.1009-2A>T;ENST00000570177:exon9:c.601-2A>T;ENST00000570146:exon5:c.255-2A>T)	.	.	0.999988247793601	0.95
18	52927260	T	C	18	55260029	y	y	splicing	TCF4(NM_001243226:exon15:c.1297-2A>G;NM_001243230:exon13:c.985-2A>G;NM_001243234:exon7:c.511-2A>G;NM_001243232:exon10:c.778-2A>G;NM_001243236:exon7:c.511-2A>G;NM_001083962:exon14:c.991-2A>G;NM_003199:exon14:c.991-2A>G;NM_001243235:exon7:c.511-2A>G;NM_001243233:exon10:c.601-2A>G;NM_001243231:exon12:c.865-2A>G;NM_001243228:exon14:c.1009-2A>G;NM_001243227:exon13:c.919-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon14:c.991-2A>G;ENST00000356073:exon14:c.991-2A>G;ENST00000568673:exon13:c.919-2A>G;ENST00000543082:exon12:c.865-2A>G;ENST00000457482:exon7:c.511-2A>G;ENST00000540999:exon13:c.919-2A>G;ENST00000537578:exon13:c.919-2A>G;ENST00000564999:exon14:c.991-2A>G;ENST00000568740:exon13:c.916-2A>G;ENST00000537856:exon9:c.601-2A>G;ENST00000544241:exon10:c.778-2A>G;ENST00000561992:exon10:c.601-2A>G;ENST00000561831:exon7:c.511-2A>G;ENST00000565018:exon14:c.991-2A>G;ENST00000566279:exon12:c.811-2A>G;ENST00000566286:exon13:c.985-2A>G;ENST00000567880:exon11:c.811-2A>G;ENST00000564228:exon10:c.778-2A>G;ENST00000570287:exon7:c.511-2A>G;ENST00000398339:exon15:c.1297-2A>G;ENST00000564403:exon14:c.1009-2A>G;ENST00000570177:exon9:c.601-2A>G;ENST00000570146:exon5:c.255-2A>G)	.	.	0.999988247793601	0.95
18	52927260	T	G	18	55260029	y	y	splicing	TCF4(NM_001243226:exon15:c.1297-2A>C;NM_001243230:exon13:c.985-2A>C;NM_001243234:exon7:c.511-2A>C;NM_001243232:exon10:c.778-2A>C;NM_001243236:exon7:c.511-2A>C;NM_001083962:exon14:c.991-2A>C;NM_003199:exon14:c.991-2A>C;NM_001243235:exon7:c.511-2A>C;NM_001243233:exon10:c.601-2A>C;NM_001243231:exon12:c.865-2A>C;NM_001243228:exon14:c.1009-2A>C;NM_001243227:exon13:c.919-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon14:c.991-2A>C;ENST00000356073:exon14:c.991-2A>C;ENST00000568673:exon13:c.919-2A>C;ENST00000543082:exon12:c.865-2A>C;ENST00000457482:exon7:c.511-2A>C;ENST00000540999:exon13:c.919-2A>C;ENST00000537578:exon13:c.919-2A>C;ENST00000564999:exon14:c.991-2A>C;ENST00000568740:exon13:c.916-2A>C;ENST00000537856:exon9:c.601-2A>C;ENST00000544241:exon10:c.778-2A>C;ENST00000561992:exon10:c.601-2A>C;ENST00000561831:exon7:c.511-2A>C;ENST00000565018:exon14:c.991-2A>C;ENST00000566279:exon12:c.811-2A>C;ENST00000566286:exon13:c.985-2A>C;ENST00000567880:exon11:c.811-2A>C;ENST00000564228:exon10:c.778-2A>C;ENST00000570287:exon7:c.511-2A>C;ENST00000398339:exon15:c.1297-2A>C;ENST00000564403:exon14:c.1009-2A>C;ENST00000570177:exon9:c.601-2A>C;ENST00000570146:exon5:c.255-2A>C)	.	.	0.999988247793601	0.95
18	52927261	T	A	18	55260030	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.57127315958762E-4	0.0
18	52927261	T	C	18	55260030	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.914922442220192	0.404
18	52927261	T	G	18	55260030	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.01395863035826E-4	0.074
18	52927262	A	C	18	55260031	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00173010752814273	0.176
18	52927262	A	G	18	55260031	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.31195447653271E-4	0.022
18	52927262	A	T	18	55260031	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00111694248888709	0.094
18	52927263	A	C	18	55260032	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996392929876826	0.824
18	52927263	A	G	18	55260032	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0895059088746762	0.222
18	52927263	A	T	18	55260032	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.997295722037434	0.926
18	52927264	A	C	18	55260033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.712793679806152	0.588
18	52927264	A	G	18	55260033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00167865878313713	0.122
18	52927264	A	T	18	55260033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.863813969126717	0.676
18	52927265	A	C	18	55260034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0705812171630576	0.308
18	52927265	A	G	18	55260034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00124789040977334	0.072
18	52927265	A	T	18	55260034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0333872572348908	0.288
18	52927266	C	A	18	55260035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.43736158946036E-4	0.006
18	52927266	C	G	18	55260035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.1471970967839E-4	0.016
18	52927266	C	T	18	55260035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0010457341314723	0.014
18	52927267	A	C	18	55260036	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0737938080898364	0.53
18	52927267	A	G	18	55260036	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00143559534991036	0.09
18	52927267	A	T	18	55260036	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999920393942356	0.972
18	52927268	A	C	18	55260037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999128089811675	0.946
18	52927268	A	G	18	55260037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.98013026455206E-4	0.014
18	52927268	A	T	18	55260037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00302505342353551	0.116
18	52927269	T	A	18	55260038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.60370221142269E-4	0.164
18	52927269	T	C	18	55260038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.7056089095261E-4	0.002
18	52927269	T	G	18	55260038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.7056089095261E-4	0.024
18	52927270	A	C	18	55260039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0026581977666281	0.228
18	52927270	A	G	18	55260039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.42126499759319E-5	0.018
18	52927270	A	T	18	55260039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0026581977666281	0.242
18	52928689	T	A	18	55261458	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.630258593898042	0.486
18	52928689	T	C	18	55261458	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.594195114921832	0.544
18	52928689	T	G	18	55261458	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.594195114921832	0.546
18	52928690	T	A	18	55261459	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.8142004746149E-4	0.058
18	52928690	T	C	18	55261459	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.53972421652694E-4	0.032
18	52928690	T	G	18	55261459	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.65422882274643E-4	0.15
18	52928691	C	A	18	55261460	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00195997432001254	0.038
18	52928691	C	G	18	55261460	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0257506198262706	0.218
18	52928691	C	T	18	55261460	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0108248734559041	0.17
18	52928692	C	A	18	55261461	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999960058147592	0.916
18	52928692	C	G	18	55261461	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999956883116559	0.918
18	52928692	C	T	18	55261461	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999974240581656	0.982
18	52928693	T	A	18	55261462	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999145325535819	0.94
18	52928693	T	C	18	55261462	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999145868044782	0.968
18	52928693	T	G	18	55261462	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999505144581726	0.938
18	52928694	C	A	18	55261463	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999931818188382	0.832
18	52928694	C	G	18	55261463	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999690842795214	0.858
18	52928694	C	T	18	55261463	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0113414488261156	0.11
18	52928695	A	C	18	55261464	y	y	splicing	TCF4(NM_001243226:exon14:c.1296+2T>G;NM_001243230:exon12:c.984+2T>G;NM_001243234:exon6:c.510+2T>G;NM_001243232:exon9:c.777+2T>G;NM_001243236:exon6:c.510+2T>G;NM_001083962:exon13:c.990+2T>G;NM_003199:exon13:c.990+2T>G;NM_001243235:exon6:c.510+2T>G;NM_001243233:exon9:c.600+2T>G;NM_001243231:exon11:c.864+2T>G;NM_001243228:exon13:c.1008+2T>G;NM_001243227:exon12:c.918+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.990+2T>G;ENST00000356073:exon13:c.990+2T>G;ENST00000568673:exon12:c.918+2T>G;ENST00000543082:exon11:c.864+2T>G;ENST00000457482:exon6:c.510+2T>G;ENST00000540999:exon12:c.918+2T>G;ENST00000537578:exon12:c.918+2T>G;ENST00000564999:exon13:c.990+2T>G;ENST00000568740:exon12:c.915+2T>G;ENST00000537856:exon8:c.600+2T>G;ENST00000544241:exon9:c.777+2T>G;ENST00000561992:exon9:c.600+2T>G;ENST00000561831:exon6:c.510+2T>G;ENST00000565018:exon13:c.990+2T>G;ENST00000566279:exon11:c.810+2T>G;ENST00000566286:exon12:c.984+2T>G;ENST00000567880:exon10:c.810+2T>G;ENST00000564228:exon9:c.777+2T>G;ENST00000570287:exon6:c.510+2T>G;ENST00000398339:exon14:c.1296+2T>G;ENST00000564403:exon13:c.1008+2T>G;ENST00000570177:exon8:c.600+2T>G;ENST00000570146:exon4:c.254+2T>G)	.	.	0.999988247793601	0.936
18	52928695	A	G	18	55261464	y	y	splicing	TCF4(NM_001243226:exon14:c.1296+2T>C;NM_001243230:exon12:c.984+2T>C;NM_001243234:exon6:c.510+2T>C;NM_001243232:exon9:c.777+2T>C;NM_001243236:exon6:c.510+2T>C;NM_001083962:exon13:c.990+2T>C;NM_003199:exon13:c.990+2T>C;NM_001243235:exon6:c.510+2T>C;NM_001243233:exon9:c.600+2T>C;NM_001243231:exon11:c.864+2T>C;NM_001243228:exon13:c.1008+2T>C;NM_001243227:exon12:c.918+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.990+2T>C;ENST00000356073:exon13:c.990+2T>C;ENST00000568673:exon12:c.918+2T>C;ENST00000543082:exon11:c.864+2T>C;ENST00000457482:exon6:c.510+2T>C;ENST00000540999:exon12:c.918+2T>C;ENST00000537578:exon12:c.918+2T>C;ENST00000564999:exon13:c.990+2T>C;ENST00000568740:exon12:c.915+2T>C;ENST00000537856:exon8:c.600+2T>C;ENST00000544241:exon9:c.777+2T>C;ENST00000561992:exon9:c.600+2T>C;ENST00000561831:exon6:c.510+2T>C;ENST00000565018:exon13:c.990+2T>C;ENST00000566279:exon11:c.810+2T>C;ENST00000566286:exon12:c.984+2T>C;ENST00000567880:exon10:c.810+2T>C;ENST00000564228:exon9:c.777+2T>C;ENST00000570287:exon6:c.510+2T>C;ENST00000398339:exon14:c.1296+2T>C;ENST00000564403:exon13:c.1008+2T>C;ENST00000570177:exon8:c.600+2T>C;ENST00000570146:exon4:c.254+2T>C)	.	.	0.999991768821547	0.942
18	52928695	A	T	18	55261464	y	y	splicing	TCF4(NM_001243226:exon14:c.1296+2T>A;NM_001243230:exon12:c.984+2T>A;NM_001243234:exon6:c.510+2T>A;NM_001243232:exon9:c.777+2T>A;NM_001243236:exon6:c.510+2T>A;NM_001083962:exon13:c.990+2T>A;NM_003199:exon13:c.990+2T>A;NM_001243235:exon6:c.510+2T>A;NM_001243233:exon9:c.600+2T>A;NM_001243231:exon11:c.864+2T>A;NM_001243228:exon13:c.1008+2T>A;NM_001243227:exon12:c.918+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.990+2T>A;ENST00000356073:exon13:c.990+2T>A;ENST00000568673:exon12:c.918+2T>A;ENST00000543082:exon11:c.864+2T>A;ENST00000457482:exon6:c.510+2T>A;ENST00000540999:exon12:c.918+2T>A;ENST00000537578:exon12:c.918+2T>A;ENST00000564999:exon13:c.990+2T>A;ENST00000568740:exon12:c.915+2T>A;ENST00000537856:exon8:c.600+2T>A;ENST00000544241:exon9:c.777+2T>A;ENST00000561992:exon9:c.600+2T>A;ENST00000561831:exon6:c.510+2T>A;ENST00000565018:exon13:c.990+2T>A;ENST00000566279:exon11:c.810+2T>A;ENST00000566286:exon12:c.984+2T>A;ENST00000567880:exon10:c.810+2T>A;ENST00000564228:exon9:c.777+2T>A;ENST00000570287:exon6:c.510+2T>A;ENST00000398339:exon14:c.1296+2T>A;ENST00000564403:exon13:c.1008+2T>A;ENST00000570177:exon8:c.600+2T>A;ENST00000570146:exon4:c.254+2T>A)	.	.	0.999988247793601	0.936
18	52928696	C	A	18	55261465	y	y	splicing	TCF4(NM_001243226:exon14:c.1296+1G>T;NM_001243230:exon12:c.984+1G>T;NM_001243234:exon6:c.510+1G>T;NM_001243232:exon9:c.777+1G>T;NM_001243236:exon6:c.510+1G>T;NM_001083962:exon13:c.990+1G>T;NM_003199:exon13:c.990+1G>T;NM_001243235:exon6:c.510+1G>T;NM_001243233:exon9:c.600+1G>T;NM_001243231:exon11:c.864+1G>T;NM_001243228:exon13:c.1008+1G>T;NM_001243227:exon12:c.918+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.990+1G>T;ENST00000356073:exon13:c.990+1G>T;ENST00000568673:exon12:c.918+1G>T;ENST00000543082:exon11:c.864+1G>T;ENST00000457482:exon6:c.510+1G>T;ENST00000540999:exon12:c.918+1G>T;ENST00000537578:exon12:c.918+1G>T;ENST00000564999:exon13:c.990+1G>T;ENST00000568740:exon12:c.915+1G>T;ENST00000537856:exon8:c.600+1G>T;ENST00000544241:exon9:c.777+1G>T;ENST00000561992:exon9:c.600+1G>T;ENST00000561831:exon6:c.510+1G>T;ENST00000565018:exon13:c.990+1G>T;ENST00000566279:exon11:c.810+1G>T;ENST00000566286:exon12:c.984+1G>T;ENST00000567880:exon10:c.810+1G>T;ENST00000564228:exon9:c.777+1G>T;ENST00000570287:exon6:c.510+1G>T;ENST00000398339:exon14:c.1296+1G>T;ENST00000564403:exon13:c.1008+1G>T;ENST00000570177:exon8:c.600+1G>T;ENST00000570146:exon4:c.254+1G>T)	.	.	0.999990361384395	0.944
18	52928696	C	G	18	55261465	y	y	splicing	TCF4(NM_001243226:exon14:c.1296+1G>C;NM_001243230:exon12:c.984+1G>C;NM_001243234:exon6:c.510+1G>C;NM_001243232:exon9:c.777+1G>C;NM_001243236:exon6:c.510+1G>C;NM_001083962:exon13:c.990+1G>C;NM_003199:exon13:c.990+1G>C;NM_001243235:exon6:c.510+1G>C;NM_001243233:exon9:c.600+1G>C;NM_001243231:exon11:c.864+1G>C;NM_001243228:exon13:c.1008+1G>C;NM_001243227:exon12:c.918+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.990+1G>C;ENST00000356073:exon13:c.990+1G>C;ENST00000568673:exon12:c.918+1G>C;ENST00000543082:exon11:c.864+1G>C;ENST00000457482:exon6:c.510+1G>C;ENST00000540999:exon12:c.918+1G>C;ENST00000537578:exon12:c.918+1G>C;ENST00000564999:exon13:c.990+1G>C;ENST00000568740:exon12:c.915+1G>C;ENST00000537856:exon8:c.600+1G>C;ENST00000544241:exon9:c.777+1G>C;ENST00000561992:exon9:c.600+1G>C;ENST00000561831:exon6:c.510+1G>C;ENST00000565018:exon13:c.990+1G>C;ENST00000566279:exon11:c.810+1G>C;ENST00000566286:exon12:c.984+1G>C;ENST00000567880:exon10:c.810+1G>C;ENST00000564228:exon9:c.777+1G>C;ENST00000570287:exon6:c.510+1G>C;ENST00000398339:exon14:c.1296+1G>C;ENST00000564403:exon13:c.1008+1G>C;ENST00000570177:exon8:c.600+1G>C;ENST00000570146:exon4:c.254+1G>C)	.	.	0.999990361384395	0.944
18	52928696	C	T	18	55261465	y	y	splicing	TCF4(NM_001243226:exon14:c.1296+1G>A;NM_001243230:exon12:c.984+1G>A;NM_001243234:exon6:c.510+1G>A;NM_001243232:exon9:c.777+1G>A;NM_001243236:exon6:c.510+1G>A;NM_001083962:exon13:c.990+1G>A;NM_003199:exon13:c.990+1G>A;NM_001243235:exon6:c.510+1G>A;NM_001243233:exon9:c.600+1G>A;NM_001243231:exon11:c.864+1G>A;NM_001243228:exon13:c.1008+1G>A;NM_001243227:exon12:c.918+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.990+1G>A;ENST00000356073:exon13:c.990+1G>A;ENST00000568673:exon12:c.918+1G>A;ENST00000543082:exon11:c.864+1G>A;ENST00000457482:exon6:c.510+1G>A;ENST00000540999:exon12:c.918+1G>A;ENST00000537578:exon12:c.918+1G>A;ENST00000564999:exon13:c.990+1G>A;ENST00000568740:exon12:c.915+1G>A;ENST00000537856:exon8:c.600+1G>A;ENST00000544241:exon9:c.777+1G>A;ENST00000561992:exon9:c.600+1G>A;ENST00000561831:exon6:c.510+1G>A;ENST00000565018:exon13:c.990+1G>A;ENST00000566279:exon11:c.810+1G>A;ENST00000566286:exon12:c.984+1G>A;ENST00000567880:exon10:c.810+1G>A;ENST00000564228:exon9:c.777+1G>A;ENST00000570287:exon6:c.510+1G>A;ENST00000398339:exon14:c.1296+1G>A;ENST00000564403:exon13:c.1008+1G>A;ENST00000570177:exon8:c.600+1G>A;ENST00000570146:exon4:c.254+1G>A)	.	.	0.999990361384395	0.944
18	52928697	C	A	18	55261466	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon5:c.G510T:p.S170S;TCF4:NM_001243235:exon5:c.G510T:p.S170S;TCF4:NM_001243231:exon10:c.G864T:p.S288S;TCF4:NM_003199:exon12:c.G990T:p.S330S;TCF4:NM_001243230:exon11:c.G984T:p.S328S;TCF4:NM_001243232:exon8:c.G777T:p.S259S;TCF4:NM_001083962:exon12:c.G990T:p.S330S;TCF4:NM_001243227:exon11:c.G918T:p.S306S;TCF4:NM_001243234:exon5:c.G510T:p.S170S;TCF4:NM_001243226:exon13:c.G1296T:p.S432S;TCF4:NM_001243228:exon12:c.G1008T:p.S336S;TCF4:NM_001243233:exon8:c.G600T:p.S200S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.G810T:p.S270S;ENSG00000196628:ENST00000561831:exon5:c.G510T:p.S170S;ENSG00000196628:ENST00000564999:exon12:c.G990T:p.S330S;ENSG00000196628:ENST00000568740:exon11:c.G915T:p.S305S;ENSG00000196628:ENST00000561992:exon8:c.G600T:p.S200S;ENSG00000196628:ENST00000565018:exon12:c.G990T:p.S330S;ENSG00000196628:ENST00000354452:exon12:c.G990T:p.S330S;ENSG00000196628:ENST00000566286:exon11:c.G984T:p.S328S;ENSG00000196628:ENST00000356073:exon12:c.G990T:p.S330S;ENSG00000196628:ENST00000543082:exon10:c.G864T:p.S288S;ENSG00000196628:ENST00000570287:exon5:c.G510T:p.S170S;ENSG00000196628:ENST00000544241:exon8:c.G777T:p.S259S;ENSG00000196628:ENST00000537578:exon11:c.G918T:p.S306S;ENSG00000196628:ENST00000564403:exon12:c.G1008T:p.S336S;ENSG00000196628:ENST00000570177:exon7:c.G600T:p.S200S;ENSG00000196628:ENST00000457482:exon5:c.G510T:p.S170S;ENSG00000196628:ENST00000568673:exon11:c.G918T:p.S306S;ENSG00000196628:ENST00000540999:exon11:c.G918T:p.S306S;ENSG00000196628:ENST00000537856:exon7:c.G600T:p.S200S;ENSG00000196628:ENST00000398339:exon13:c.G1296T:p.S432S;ENSG00000196628:ENST00000564228:exon8:c.G777T:p.S259S;ENSG00000196628:ENST00000567880:exon9:c.G810T:p.S270S;	0.999965312705138	0.996
18	52928697	C	G	18	55261466	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon5:c.G510C:p.S170S;TCF4:NM_001243235:exon5:c.G510C:p.S170S;TCF4:NM_001243231:exon10:c.G864C:p.S288S;TCF4:NM_003199:exon12:c.G990C:p.S330S;TCF4:NM_001243230:exon11:c.G984C:p.S328S;TCF4:NM_001243232:exon8:c.G777C:p.S259S;TCF4:NM_001083962:exon12:c.G990C:p.S330S;TCF4:NM_001243227:exon11:c.G918C:p.S306S;TCF4:NM_001243234:exon5:c.G510C:p.S170S;TCF4:NM_001243226:exon13:c.G1296C:p.S432S;TCF4:NM_001243228:exon12:c.G1008C:p.S336S;TCF4:NM_001243233:exon8:c.G600C:p.S200S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.G810C:p.S270S;ENSG00000196628:ENST00000561831:exon5:c.G510C:p.S170S;ENSG00000196628:ENST00000564999:exon12:c.G990C:p.S330S;ENSG00000196628:ENST00000568740:exon11:c.G915C:p.S305S;ENSG00000196628:ENST00000561992:exon8:c.G600C:p.S200S;ENSG00000196628:ENST00000565018:exon12:c.G990C:p.S330S;ENSG00000196628:ENST00000354452:exon12:c.G990C:p.S330S;ENSG00000196628:ENST00000566286:exon11:c.G984C:p.S328S;ENSG00000196628:ENST00000356073:exon12:c.G990C:p.S330S;ENSG00000196628:ENST00000543082:exon10:c.G864C:p.S288S;ENSG00000196628:ENST00000570287:exon5:c.G510C:p.S170S;ENSG00000196628:ENST00000544241:exon8:c.G777C:p.S259S;ENSG00000196628:ENST00000537578:exon11:c.G918C:p.S306S;ENSG00000196628:ENST00000564403:exon12:c.G1008C:p.S336S;ENSG00000196628:ENST00000570177:exon7:c.G600C:p.S200S;ENSG00000196628:ENST00000457482:exon5:c.G510C:p.S170S;ENSG00000196628:ENST00000568673:exon11:c.G918C:p.S306S;ENSG00000196628:ENST00000540999:exon11:c.G918C:p.S306S;ENSG00000196628:ENST00000537856:exon7:c.G600C:p.S200S;ENSG00000196628:ENST00000398339:exon13:c.G1296C:p.S432S;ENSG00000196628:ENST00000564228:exon8:c.G777C:p.S259S;ENSG00000196628:ENST00000567880:exon9:c.G810C:p.S270S;	0.999960160577769	1.0
18	52928697	C	T	18	55261466	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon5:c.G510A:p.S170S;TCF4:NM_001243235:exon5:c.G510A:p.S170S;TCF4:NM_001243231:exon10:c.G864A:p.S288S;TCF4:NM_003199:exon12:c.G990A:p.S330S;TCF4:NM_001243230:exon11:c.G984A:p.S328S;TCF4:NM_001243232:exon8:c.G777A:p.S259S;TCF4:NM_001083962:exon12:c.G990A:p.S330S;TCF4:NM_001243227:exon11:c.G918A:p.S306S;TCF4:NM_001243234:exon5:c.G510A:p.S170S;TCF4:NM_001243226:exon13:c.G1296A:p.S432S;TCF4:NM_001243228:exon12:c.G1008A:p.S336S;TCF4:NM_001243233:exon8:c.G600A:p.S200S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.G810A:p.S270S;ENSG00000196628:ENST00000561831:exon5:c.G510A:p.S170S;ENSG00000196628:ENST00000564999:exon12:c.G990A:p.S330S;ENSG00000196628:ENST00000568740:exon11:c.G915A:p.S305S;ENSG00000196628:ENST00000561992:exon8:c.G600A:p.S200S;ENSG00000196628:ENST00000565018:exon12:c.G990A:p.S330S;ENSG00000196628:ENST00000354452:exon12:c.G990A:p.S330S;ENSG00000196628:ENST00000566286:exon11:c.G984A:p.S328S;ENSG00000196628:ENST00000356073:exon12:c.G990A:p.S330S;ENSG00000196628:ENST00000543082:exon10:c.G864A:p.S288S;ENSG00000196628:ENST00000570287:exon5:c.G510A:p.S170S;ENSG00000196628:ENST00000544241:exon8:c.G777A:p.S259S;ENSG00000196628:ENST00000537578:exon11:c.G918A:p.S306S;ENSG00000196628:ENST00000564403:exon12:c.G1008A:p.S336S;ENSG00000196628:ENST00000570177:exon7:c.G600A:p.S200S;ENSG00000196628:ENST00000457482:exon5:c.G510A:p.S170S;ENSG00000196628:ENST00000568673:exon11:c.G918A:p.S306S;ENSG00000196628:ENST00000540999:exon11:c.G918A:p.S306S;ENSG00000196628:ENST00000537856:exon7:c.G600A:p.S200S;ENSG00000196628:ENST00000398339:exon13:c.G1296A:p.S432S;ENSG00000196628:ENST00000564228:exon8:c.G777A:p.S259S;ENSG00000196628:ENST00000567880:exon9:c.G810A:p.S270S;	0.999976425559574	0.998
18	52928698	G	A	18	55261467	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon5:c.C509T:p.S170L;TCF4:NM_001243235:exon5:c.C509T:p.S170L;TCF4:NM_001243231:exon10:c.C863T:p.S288L;TCF4:NM_003199:exon12:c.C989T:p.S330L;TCF4:NM_001243230:exon11:c.C983T:p.S328L;TCF4:NM_001243232:exon8:c.C776T:p.S259L;TCF4:NM_001083962:exon12:c.C989T:p.S330L;TCF4:NM_001243227:exon11:c.C917T:p.S306L;TCF4:NM_001243234:exon5:c.C509T:p.S170L;TCF4:NM_001243226:exon13:c.C1295T:p.S432L;TCF4:NM_001243228:exon12:c.C1007T:p.S336L;TCF4:NM_001243233:exon8:c.C599T:p.S200L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.C809T:p.S270L;ENSG00000196628:ENST00000561831:exon5:c.C509T:p.S170L;ENSG00000196628:ENST00000564999:exon12:c.C989T:p.S330L;ENSG00000196628:ENST00000568740:exon11:c.C914T:p.S305L;ENSG00000196628:ENST00000561992:exon8:c.C599T:p.S200L;ENSG00000196628:ENST00000565018:exon12:c.C989T:p.S330L;ENSG00000196628:ENST00000354452:exon12:c.C989T:p.S330L;ENSG00000196628:ENST00000566286:exon11:c.C983T:p.S328L;ENSG00000196628:ENST00000356073:exon12:c.C989T:p.S330L;ENSG00000196628:ENST00000543082:exon10:c.C863T:p.S288L;ENSG00000196628:ENST00000570287:exon5:c.C509T:p.S170L;ENSG00000196628:ENST00000544241:exon8:c.C776T:p.S259L;ENSG00000196628:ENST00000537578:exon11:c.C917T:p.S306L;ENSG00000196628:ENST00000564403:exon12:c.C1007T:p.S336L;ENSG00000196628:ENST00000570177:exon7:c.C599T:p.S200L;ENSG00000196628:ENST00000457482:exon5:c.C509T:p.S170L;ENSG00000196628:ENST00000568673:exon11:c.C917T:p.S306L;ENSG00000196628:ENST00000540999:exon11:c.C917T:p.S306L;ENSG00000196628:ENST00000537856:exon7:c.C599T:p.S200L;ENSG00000196628:ENST00000398339:exon13:c.C1295T:p.S432L;ENSG00000196628:ENST00000564228:exon8:c.C776T:p.S259L;ENSG00000196628:ENST00000567880:exon9:c.C809T:p.S270L;	0.994713048780644	0.888
18	52928698	G	C	18	55261467	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon5:c.C509G:p.S170W;TCF4:NM_001243235:exon5:c.C509G:p.S170W;TCF4:NM_001243231:exon10:c.C863G:p.S288W;TCF4:NM_003199:exon12:c.C989G:p.S330W;TCF4:NM_001243230:exon11:c.C983G:p.S328W;TCF4:NM_001243232:exon8:c.C776G:p.S259W;TCF4:NM_001083962:exon12:c.C989G:p.S330W;TCF4:NM_001243227:exon11:c.C917G:p.S306W;TCF4:NM_001243234:exon5:c.C509G:p.S170W;TCF4:NM_001243226:exon13:c.C1295G:p.S432W;TCF4:NM_001243228:exon12:c.C1007G:p.S336W;TCF4:NM_001243233:exon8:c.C599G:p.S200W;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.C809G:p.S270W;ENSG00000196628:ENST00000561831:exon5:c.C509G:p.S170W;ENSG00000196628:ENST00000564999:exon12:c.C989G:p.S330W;ENSG00000196628:ENST00000568740:exon11:c.C914G:p.S305W;ENSG00000196628:ENST00000561992:exon8:c.C599G:p.S200W;ENSG00000196628:ENST00000565018:exon12:c.C989G:p.S330W;ENSG00000196628:ENST00000354452:exon12:c.C989G:p.S330W;ENSG00000196628:ENST00000566286:exon11:c.C983G:p.S328W;ENSG00000196628:ENST00000356073:exon12:c.C989G:p.S330W;ENSG00000196628:ENST00000543082:exon10:c.C863G:p.S288W;ENSG00000196628:ENST00000570287:exon5:c.C509G:p.S170W;ENSG00000196628:ENST00000544241:exon8:c.C776G:p.S259W;ENSG00000196628:ENST00000537578:exon11:c.C917G:p.S306W;ENSG00000196628:ENST00000564403:exon12:c.C1007G:p.S336W;ENSG00000196628:ENST00000570177:exon7:c.C599G:p.S200W;ENSG00000196628:ENST00000457482:exon5:c.C509G:p.S170W;ENSG00000196628:ENST00000568673:exon11:c.C917G:p.S306W;ENSG00000196628:ENST00000540999:exon11:c.C917G:p.S306W;ENSG00000196628:ENST00000537856:exon7:c.C599G:p.S200W;ENSG00000196628:ENST00000398339:exon13:c.C1295G:p.S432W;ENSG00000196628:ENST00000564228:exon8:c.C776G:p.S259W;ENSG00000196628:ENST00000567880:exon9:c.C809G:p.S270W;	0.996159715395996	0.78
18	52928698	G	T	18	55261467	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243236:exon5:c.C509A:p.S170X;TCF4:NM_001243235:exon5:c.C509A:p.S170X;TCF4:NM_001243231:exon10:c.C863A:p.S288X;TCF4:NM_003199:exon12:c.C989A:p.S330X;TCF4:NM_001243230:exon11:c.C983A:p.S328X;TCF4:NM_001243232:exon8:c.C776A:p.S259X;TCF4:NM_001083962:exon12:c.C989A:p.S330X;TCF4:NM_001243227:exon11:c.C917A:p.S306X;TCF4:NM_001243234:exon5:c.C509A:p.S170X;TCF4:NM_001243226:exon13:c.C1295A:p.S432X;TCF4:NM_001243228:exon12:c.C1007A:p.S336X;TCF4:NM_001243233:exon8:c.C599A:p.S200X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon10:c.C809A:p.S270X;ENSG00000196628:ENST00000561831:exon5:c.C509A:p.S170X;ENSG00000196628:ENST00000564999:exon12:c.C989A:p.S330X;ENSG00000196628:ENST00000568740:exon11:c.C914A:p.S305X;ENSG00000196628:ENST00000561992:exon8:c.C599A:p.S200X;ENSG00000196628:ENST00000565018:exon12:c.C989A:p.S330X;ENSG00000196628:ENST00000354452:exon12:c.C989A:p.S330X;ENSG00000196628:ENST00000566286:exon11:c.C983A:p.S328X;ENSG00000196628:ENST00000356073:exon12:c.C989A:p.S330X;ENSG00000196628:ENST00000543082:exon10:c.C863A:p.S288X;ENSG00000196628:ENST00000570287:exon5:c.C509A:p.S170X;ENSG00000196628:ENST00000544241:exon8:c.C776A:p.S259X;ENSG00000196628:ENST00000537578:exon11:c.C917A:p.S306X;ENSG00000196628:ENST00000564403:exon12:c.C1007A:p.S336X;ENSG00000196628:ENST00000570177:exon7:c.C599A:p.S200X;ENSG00000196628:ENST00000457482:exon5:c.C509A:p.S170X;ENSG00000196628:ENST00000568673:exon11:c.C917A:p.S306X;ENSG00000196628:ENST00000540999:exon11:c.C917A:p.S306X;ENSG00000196628:ENST00000537856:exon7:c.C599A:p.S200X;ENSG00000196628:ENST00000398339:exon13:c.C1295A:p.S432X;ENSG00000196628:ENST00000564228:exon8:c.C776A:p.S259X;ENSG00000196628:ENST00000567880:exon9:c.C809A:p.S270X;	0.983105715482329	0.698
18	52928699	A	C	18	55261468	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon5:c.T508G:p.S170A;TCF4:NM_001243235:exon5:c.T508G:p.S170A;TCF4:NM_001243231:exon10:c.T862G:p.S288A;TCF4:NM_003199:exon12:c.T988G:p.S330A;TCF4:NM_001243230:exon11:c.T982G:p.S328A;TCF4:NM_001243232:exon8:c.T775G:p.S259A;TCF4:NM_001083962:exon12:c.T988G:p.S330A;TCF4:NM_001243227:exon11:c.T916G:p.S306A;TCF4:NM_001243234:exon5:c.T508G:p.S170A;TCF4:NM_001243226:exon13:c.T1294G:p.S432A;TCF4:NM_001243228:exon12:c.T1006G:p.S336A;TCF4:NM_001243233:exon8:c.T598G:p.S200A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.T808G:p.S270A;ENSG00000196628:ENST00000561831:exon5:c.T508G:p.S170A;ENSG00000196628:ENST00000564999:exon12:c.T988G:p.S330A;ENSG00000196628:ENST00000568740:exon11:c.T913G:p.S305A;ENSG00000196628:ENST00000561992:exon8:c.T598G:p.S200A;ENSG00000196628:ENST00000565018:exon12:c.T988G:p.S330A;ENSG00000196628:ENST00000354452:exon12:c.T988G:p.S330A;ENSG00000196628:ENST00000566286:exon11:c.T982G:p.S328A;ENSG00000196628:ENST00000356073:exon12:c.T988G:p.S330A;ENSG00000196628:ENST00000543082:exon10:c.T862G:p.S288A;ENSG00000196628:ENST00000570287:exon5:c.T508G:p.S170A;ENSG00000196628:ENST00000544241:exon8:c.T775G:p.S259A;ENSG00000196628:ENST00000537578:exon11:c.T916G:p.S306A;ENSG00000196628:ENST00000564403:exon12:c.T1006G:p.S336A;ENSG00000196628:ENST00000570177:exon7:c.T598G:p.S200A;ENSG00000196628:ENST00000457482:exon5:c.T508G:p.S170A;ENSG00000196628:ENST00000568673:exon11:c.T916G:p.S306A;ENSG00000196628:ENST00000540999:exon11:c.T916G:p.S306A;ENSG00000196628:ENST00000537856:exon7:c.T598G:p.S200A;ENSG00000196628:ENST00000398339:exon13:c.T1294G:p.S432A;ENSG00000196628:ENST00000564228:exon8:c.T775G:p.S259A;ENSG00000196628:ENST00000567880:exon9:c.T808G:p.S270A;	0.817131728138988	0.758
18	52928699	A	G	18	55261468	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon5:c.T508C:p.S170P;TCF4:NM_001243235:exon5:c.T508C:p.S170P;TCF4:NM_001243231:exon10:c.T862C:p.S288P;TCF4:NM_003199:exon12:c.T988C:p.S330P;TCF4:NM_001243230:exon11:c.T982C:p.S328P;TCF4:NM_001243232:exon8:c.T775C:p.S259P;TCF4:NM_001083962:exon12:c.T988C:p.S330P;TCF4:NM_001243227:exon11:c.T916C:p.S306P;TCF4:NM_001243234:exon5:c.T508C:p.S170P;TCF4:NM_001243226:exon13:c.T1294C:p.S432P;TCF4:NM_001243228:exon12:c.T1006C:p.S336P;TCF4:NM_001243233:exon8:c.T598C:p.S200P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.T808C:p.S270P;ENSG00000196628:ENST00000561831:exon5:c.T508C:p.S170P;ENSG00000196628:ENST00000564999:exon12:c.T988C:p.S330P;ENSG00000196628:ENST00000568740:exon11:c.T913C:p.S305P;ENSG00000196628:ENST00000561992:exon8:c.T598C:p.S200P;ENSG00000196628:ENST00000565018:exon12:c.T988C:p.S330P;ENSG00000196628:ENST00000354452:exon12:c.T988C:p.S330P;ENSG00000196628:ENST00000566286:exon11:c.T982C:p.S328P;ENSG00000196628:ENST00000356073:exon12:c.T988C:p.S330P;ENSG00000196628:ENST00000543082:exon10:c.T862C:p.S288P;ENSG00000196628:ENST00000570287:exon5:c.T508C:p.S170P;ENSG00000196628:ENST00000544241:exon8:c.T775C:p.S259P;ENSG00000196628:ENST00000537578:exon11:c.T916C:p.S306P;ENSG00000196628:ENST00000564403:exon12:c.T1006C:p.S336P;ENSG00000196628:ENST00000570177:exon7:c.T598C:p.S200P;ENSG00000196628:ENST00000457482:exon5:c.T508C:p.S170P;ENSG00000196628:ENST00000568673:exon11:c.T916C:p.S306P;ENSG00000196628:ENST00000540999:exon11:c.T916C:p.S306P;ENSG00000196628:ENST00000537856:exon7:c.T598C:p.S200P;ENSG00000196628:ENST00000398339:exon13:c.T1294C:p.S432P;ENSG00000196628:ENST00000564228:exon8:c.T775C:p.S259P;ENSG00000196628:ENST00000567880:exon9:c.T808C:p.S270P;	0.743308528622722	0.606
18	52928699	A	T	18	55261468	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon5:c.T508A:p.S170T;TCF4:NM_001243235:exon5:c.T508A:p.S170T;TCF4:NM_001243231:exon10:c.T862A:p.S288T;TCF4:NM_003199:exon12:c.T988A:p.S330T;TCF4:NM_001243230:exon11:c.T982A:p.S328T;TCF4:NM_001243232:exon8:c.T775A:p.S259T;TCF4:NM_001083962:exon12:c.T988A:p.S330T;TCF4:NM_001243227:exon11:c.T916A:p.S306T;TCF4:NM_001243234:exon5:c.T508A:p.S170T;TCF4:NM_001243226:exon13:c.T1294A:p.S432T;TCF4:NM_001243228:exon12:c.T1006A:p.S336T;TCF4:NM_001243233:exon8:c.T598A:p.S200T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.T808A:p.S270T;ENSG00000196628:ENST00000561831:exon5:c.T508A:p.S170T;ENSG00000196628:ENST00000564999:exon12:c.T988A:p.S330T;ENSG00000196628:ENST00000568740:exon11:c.T913A:p.S305T;ENSG00000196628:ENST00000561992:exon8:c.T598A:p.S200T;ENSG00000196628:ENST00000565018:exon12:c.T988A:p.S330T;ENSG00000196628:ENST00000354452:exon12:c.T988A:p.S330T;ENSG00000196628:ENST00000566286:exon11:c.T982A:p.S328T;ENSG00000196628:ENST00000356073:exon12:c.T988A:p.S330T;ENSG00000196628:ENST00000543082:exon10:c.T862A:p.S288T;ENSG00000196628:ENST00000570287:exon5:c.T508A:p.S170T;ENSG00000196628:ENST00000544241:exon8:c.T775A:p.S259T;ENSG00000196628:ENST00000537578:exon11:c.T916A:p.S306T;ENSG00000196628:ENST00000564403:exon12:c.T1006A:p.S336T;ENSG00000196628:ENST00000570177:exon7:c.T598A:p.S200T;ENSG00000196628:ENST00000457482:exon5:c.T508A:p.S170T;ENSG00000196628:ENST00000568673:exon11:c.T916A:p.S306T;ENSG00000196628:ENST00000540999:exon11:c.T916A:p.S306T;ENSG00000196628:ENST00000537856:exon7:c.T598A:p.S200T;ENSG00000196628:ENST00000398339:exon13:c.T1294A:p.S432T;ENSG00000196628:ENST00000564228:exon8:c.T775A:p.S259T;ENSG00000196628:ENST00000567880:exon9:c.T808A:p.S270T;	0.743308528622722	0.636
18	52928763	T	A	18	55261532	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon5:c.A444T:p.A148A;TCF4:NM_001243235:exon5:c.A444T:p.A148A;TCF4:NM_001243231:exon10:c.A798T:p.A266A;TCF4:NM_003199:exon12:c.A924T:p.A308A;TCF4:NM_001243230:exon11:c.A918T:p.A306A;TCF4:NM_001243232:exon8:c.A711T:p.A237A;TCF4:NM_001083962:exon12:c.A924T:p.A308A;TCF4:NM_001243227:exon11:c.A852T:p.A284A;TCF4:NM_001243234:exon5:c.A444T:p.A148A;TCF4:NM_001243226:exon13:c.A1230T:p.A410A;TCF4:NM_001243228:exon12:c.A942T:p.A314A;TCF4:NM_001243233:exon8:c.A534T:p.A178A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.A744T:p.A248A;ENSG00000196628:ENST00000561831:exon5:c.A444T:p.A148A;ENSG00000196628:ENST00000564999:exon12:c.A924T:p.A308A;ENSG00000196628:ENST00000568740:exon11:c.A849T:p.A283A;ENSG00000196628:ENST00000561992:exon8:c.A534T:p.A178A;ENSG00000196628:ENST00000565018:exon12:c.A924T:p.A308A;ENSG00000196628:ENST00000354452:exon12:c.A924T:p.A308A;ENSG00000196628:ENST00000566286:exon11:c.A918T:p.A306A;ENSG00000196628:ENST00000356073:exon12:c.A924T:p.A308A;ENSG00000196628:ENST00000543082:exon10:c.A798T:p.A266A;ENSG00000196628:ENST00000570287:exon5:c.A444T:p.A148A;ENSG00000196628:ENST00000544241:exon8:c.A711T:p.A237A;ENSG00000196628:ENST00000537578:exon11:c.A852T:p.A284A;ENSG00000196628:ENST00000564403:exon12:c.A942T:p.A314A;ENSG00000196628:ENST00000570177:exon7:c.A534T:p.A178A;ENSG00000196628:ENST00000457482:exon5:c.A444T:p.A148A;ENSG00000196628:ENST00000568673:exon11:c.A852T:p.A284A;ENSG00000196628:ENST00000540999:exon11:c.A852T:p.A284A;ENSG00000196628:ENST00000537856:exon7:c.A534T:p.A178A;ENSG00000196628:ENST00000398339:exon13:c.A1230T:p.A410A;ENSG00000196628:ENST00000564228:exon8:c.A711T:p.A237A;ENSG00000196628:ENST00000567880:exon9:c.A744T:p.A248A;	0.482156743399779	0.558
18	52928763	T	C	18	55261532	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon5:c.A444G:p.A148A;TCF4:NM_001243235:exon5:c.A444G:p.A148A;TCF4:NM_001243231:exon10:c.A798G:p.A266A;TCF4:NM_003199:exon12:c.A924G:p.A308A;TCF4:NM_001243230:exon11:c.A918G:p.A306A;TCF4:NM_001243232:exon8:c.A711G:p.A237A;TCF4:NM_001083962:exon12:c.A924G:p.A308A;TCF4:NM_001243227:exon11:c.A852G:p.A284A;TCF4:NM_001243234:exon5:c.A444G:p.A148A;TCF4:NM_001243226:exon13:c.A1230G:p.A410A;TCF4:NM_001243228:exon12:c.A942G:p.A314A;TCF4:NM_001243233:exon8:c.A534G:p.A178A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.A744G:p.A248A;ENSG00000196628:ENST00000561831:exon5:c.A444G:p.A148A;ENSG00000196628:ENST00000564999:exon12:c.A924G:p.A308A;ENSG00000196628:ENST00000568740:exon11:c.A849G:p.A283A;ENSG00000196628:ENST00000561992:exon8:c.A534G:p.A178A;ENSG00000196628:ENST00000565018:exon12:c.A924G:p.A308A;ENSG00000196628:ENST00000354452:exon12:c.A924G:p.A308A;ENSG00000196628:ENST00000566286:exon11:c.A918G:p.A306A;ENSG00000196628:ENST00000356073:exon12:c.A924G:p.A308A;ENSG00000196628:ENST00000543082:exon10:c.A798G:p.A266A;ENSG00000196628:ENST00000570287:exon5:c.A444G:p.A148A;ENSG00000196628:ENST00000544241:exon8:c.A711G:p.A237A;ENSG00000196628:ENST00000537578:exon11:c.A852G:p.A284A;ENSG00000196628:ENST00000564403:exon12:c.A942G:p.A314A;ENSG00000196628:ENST00000570177:exon7:c.A534G:p.A178A;ENSG00000196628:ENST00000457482:exon5:c.A444G:p.A148A;ENSG00000196628:ENST00000568673:exon11:c.A852G:p.A284A;ENSG00000196628:ENST00000540999:exon11:c.A852G:p.A284A;ENSG00000196628:ENST00000537856:exon7:c.A534G:p.A178A;ENSG00000196628:ENST00000398339:exon13:c.A1230G:p.A410A;ENSG00000196628:ENST00000564228:exon8:c.A711G:p.A237A;ENSG00000196628:ENST00000567880:exon9:c.A744G:p.A248A;	0.334332230075793	0.38
18	52928763	T	G	18	55261532	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon5:c.A444C:p.A148A;TCF4:NM_001243235:exon5:c.A444C:p.A148A;TCF4:NM_001243231:exon10:c.A798C:p.A266A;TCF4:NM_003199:exon12:c.A924C:p.A308A;TCF4:NM_001243230:exon11:c.A918C:p.A306A;TCF4:NM_001243232:exon8:c.A711C:p.A237A;TCF4:NM_001083962:exon12:c.A924C:p.A308A;TCF4:NM_001243227:exon11:c.A852C:p.A284A;TCF4:NM_001243234:exon5:c.A444C:p.A148A;TCF4:NM_001243226:exon13:c.A1230C:p.A410A;TCF4:NM_001243228:exon12:c.A942C:p.A314A;TCF4:NM_001243233:exon8:c.A534C:p.A178A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.A744C:p.A248A;ENSG00000196628:ENST00000561831:exon5:c.A444C:p.A148A;ENSG00000196628:ENST00000564999:exon12:c.A924C:p.A308A;ENSG00000196628:ENST00000568740:exon11:c.A849C:p.A283A;ENSG00000196628:ENST00000561992:exon8:c.A534C:p.A178A;ENSG00000196628:ENST00000565018:exon12:c.A924C:p.A308A;ENSG00000196628:ENST00000354452:exon12:c.A924C:p.A308A;ENSG00000196628:ENST00000566286:exon11:c.A918C:p.A306A;ENSG00000196628:ENST00000356073:exon12:c.A924C:p.A308A;ENSG00000196628:ENST00000543082:exon10:c.A798C:p.A266A;ENSG00000196628:ENST00000570287:exon5:c.A444C:p.A148A;ENSG00000196628:ENST00000544241:exon8:c.A711C:p.A237A;ENSG00000196628:ENST00000537578:exon11:c.A852C:p.A284A;ENSG00000196628:ENST00000564403:exon12:c.A942C:p.A314A;ENSG00000196628:ENST00000570177:exon7:c.A534C:p.A178A;ENSG00000196628:ENST00000457482:exon5:c.A444C:p.A148A;ENSG00000196628:ENST00000568673:exon11:c.A852C:p.A284A;ENSG00000196628:ENST00000540999:exon11:c.A852C:p.A284A;ENSG00000196628:ENST00000537856:exon7:c.A534C:p.A178A;ENSG00000196628:ENST00000398339:exon13:c.A1230C:p.A410A;ENSG00000196628:ENST00000564228:exon8:c.A711C:p.A237A;ENSG00000196628:ENST00000567880:exon9:c.A744C:p.A248A;	0.50663819378814	0.6
18	52928764	G	A	18	55261533	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon5:c.C443T:p.A148V;TCF4:NM_001243235:exon5:c.C443T:p.A148V;TCF4:NM_001243231:exon10:c.C797T:p.A266V;TCF4:NM_003199:exon12:c.C923T:p.A308V;TCF4:NM_001243230:exon11:c.C917T:p.A306V;TCF4:NM_001243232:exon8:c.C710T:p.A237V;TCF4:NM_001083962:exon12:c.C923T:p.A308V;TCF4:NM_001243227:exon11:c.C851T:p.A284V;TCF4:NM_001243234:exon5:c.C443T:p.A148V;TCF4:NM_001243226:exon13:c.C1229T:p.A410V;TCF4:NM_001243228:exon12:c.C941T:p.A314V;TCF4:NM_001243233:exon8:c.C533T:p.A178V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.C743T:p.A248V;ENSG00000196628:ENST00000561831:exon5:c.C443T:p.A148V;ENSG00000196628:ENST00000564999:exon12:c.C923T:p.A308V;ENSG00000196628:ENST00000568740:exon11:c.C848T:p.A283V;ENSG00000196628:ENST00000561992:exon8:c.C533T:p.A178V;ENSG00000196628:ENST00000565018:exon12:c.C923T:p.A308V;ENSG00000196628:ENST00000354452:exon12:c.C923T:p.A308V;ENSG00000196628:ENST00000566286:exon11:c.C917T:p.A306V;ENSG00000196628:ENST00000356073:exon12:c.C923T:p.A308V;ENSG00000196628:ENST00000543082:exon10:c.C797T:p.A266V;ENSG00000196628:ENST00000570287:exon5:c.C443T:p.A148V;ENSG00000196628:ENST00000544241:exon8:c.C710T:p.A237V;ENSG00000196628:ENST00000537578:exon11:c.C851T:p.A284V;ENSG00000196628:ENST00000564403:exon12:c.C941T:p.A314V;ENSG00000196628:ENST00000570177:exon7:c.C533T:p.A178V;ENSG00000196628:ENST00000457482:exon5:c.C443T:p.A148V;ENSG00000196628:ENST00000568673:exon11:c.C851T:p.A284V;ENSG00000196628:ENST00000540999:exon11:c.C851T:p.A284V;ENSG00000196628:ENST00000537856:exon7:c.C533T:p.A178V;ENSG00000196628:ENST00000398339:exon13:c.C1229T:p.A410V;ENSG00000196628:ENST00000564228:exon8:c.C710T:p.A237V;ENSG00000196628:ENST00000567880:exon9:c.C743T:p.A248V;	0.994935142249313	0.928
18	52928764	G	C	18	55261533	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon5:c.C443G:p.A148G;TCF4:NM_001243235:exon5:c.C443G:p.A148G;TCF4:NM_001243231:exon10:c.C797G:p.A266G;TCF4:NM_003199:exon12:c.C923G:p.A308G;TCF4:NM_001243230:exon11:c.C917G:p.A306G;TCF4:NM_001243232:exon8:c.C710G:p.A237G;TCF4:NM_001083962:exon12:c.C923G:p.A308G;TCF4:NM_001243227:exon11:c.C851G:p.A284G;TCF4:NM_001243234:exon5:c.C443G:p.A148G;TCF4:NM_001243226:exon13:c.C1229G:p.A410G;TCF4:NM_001243228:exon12:c.C941G:p.A314G;TCF4:NM_001243233:exon8:c.C533G:p.A178G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.C743G:p.A248G;ENSG00000196628:ENST00000561831:exon5:c.C443G:p.A148G;ENSG00000196628:ENST00000564999:exon12:c.C923G:p.A308G;ENSG00000196628:ENST00000568740:exon11:c.C848G:p.A283G;ENSG00000196628:ENST00000561992:exon8:c.C533G:p.A178G;ENSG00000196628:ENST00000565018:exon12:c.C923G:p.A308G;ENSG00000196628:ENST00000354452:exon12:c.C923G:p.A308G;ENSG00000196628:ENST00000566286:exon11:c.C917G:p.A306G;ENSG00000196628:ENST00000356073:exon12:c.C923G:p.A308G;ENSG00000196628:ENST00000543082:exon10:c.C797G:p.A266G;ENSG00000196628:ENST00000570287:exon5:c.C443G:p.A148G;ENSG00000196628:ENST00000544241:exon8:c.C710G:p.A237G;ENSG00000196628:ENST00000537578:exon11:c.C851G:p.A284G;ENSG00000196628:ENST00000564403:exon12:c.C941G:p.A314G;ENSG00000196628:ENST00000570177:exon7:c.C533G:p.A178G;ENSG00000196628:ENST00000457482:exon5:c.C443G:p.A148G;ENSG00000196628:ENST00000568673:exon11:c.C851G:p.A284G;ENSG00000196628:ENST00000540999:exon11:c.C851G:p.A284G;ENSG00000196628:ENST00000537856:exon7:c.C533G:p.A178G;ENSG00000196628:ENST00000398339:exon13:c.C1229G:p.A410G;ENSG00000196628:ENST00000564228:exon8:c.C710G:p.A237G;ENSG00000196628:ENST00000567880:exon9:c.C743G:p.A248G;	0.00460936412091708	0.116
18	52928764	G	T	18	55261533	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon5:c.C443A:p.A148E;TCF4:NM_001243235:exon5:c.C443A:p.A148E;TCF4:NM_001243231:exon10:c.C797A:p.A266E;TCF4:NM_003199:exon12:c.C923A:p.A308E;TCF4:NM_001243230:exon11:c.C917A:p.A306E;TCF4:NM_001243232:exon8:c.C710A:p.A237E;TCF4:NM_001083962:exon12:c.C923A:p.A308E;TCF4:NM_001243227:exon11:c.C851A:p.A284E;TCF4:NM_001243234:exon5:c.C443A:p.A148E;TCF4:NM_001243226:exon13:c.C1229A:p.A410E;TCF4:NM_001243228:exon12:c.C941A:p.A314E;TCF4:NM_001243233:exon8:c.C533A:p.A178E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon10:c.C743A:p.A248E;ENSG00000196628:ENST00000561831:exon5:c.C443A:p.A148E;ENSG00000196628:ENST00000564999:exon12:c.C923A:p.A308E;ENSG00000196628:ENST00000568740:exon11:c.C848A:p.A283E;ENSG00000196628:ENST00000561992:exon8:c.C533A:p.A178E;ENSG00000196628:ENST00000565018:exon12:c.C923A:p.A308E;ENSG00000196628:ENST00000354452:exon12:c.C923A:p.A308E;ENSG00000196628:ENST00000566286:exon11:c.C917A:p.A306E;ENSG00000196628:ENST00000356073:exon12:c.C923A:p.A308E;ENSG00000196628:ENST00000543082:exon10:c.C797A:p.A266E;ENSG00000196628:ENST00000570287:exon5:c.C443A:p.A148E;ENSG00000196628:ENST00000544241:exon8:c.C710A:p.A237E;ENSG00000196628:ENST00000537578:exon11:c.C851A:p.A284E;ENSG00000196628:ENST00000564403:exon12:c.C941A:p.A314E;ENSG00000196628:ENST00000570177:exon7:c.C533A:p.A178E;ENSG00000196628:ENST00000457482:exon5:c.C443A:p.A148E;ENSG00000196628:ENST00000568673:exon11:c.C851A:p.A284E;ENSG00000196628:ENST00000540999:exon11:c.C851A:p.A284E;ENSG00000196628:ENST00000537856:exon7:c.C533A:p.A178E;ENSG00000196628:ENST00000398339:exon13:c.C1229A:p.A410E;ENSG00000196628:ENST00000564228:exon8:c.C710A:p.A237E;ENSG00000196628:ENST00000567880:exon9:c.C743A:p.A248E;	0.978237172409308	0.788
18	52928765	C	A	18	55261534	y	y	splicing	TCF4(NM_001243226:exon14:c.1229-1G>T;NM_001243230:exon12:c.917-1G>T;NM_001243234:exon6:c.443-1G>T;NM_001243232:exon9:c.710-1G>T;NM_001243236:exon6:c.443-1G>T;NM_001083962:exon13:c.923-1G>T;NM_003199:exon13:c.923-1G>T;NM_001243235:exon6:c.443-1G>T;NM_001243233:exon9:c.533-1G>T;NM_001243231:exon11:c.797-1G>T;NM_001243228:exon13:c.941-1G>T;NM_001243227:exon12:c.851-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.923-1G>T;ENST00000356073:exon13:c.923-1G>T;ENST00000568673:exon12:c.851-1G>T;ENST00000543082:exon11:c.797-1G>T;ENST00000457482:exon6:c.443-1G>T;ENST00000540999:exon12:c.851-1G>T;ENST00000537578:exon12:c.851-1G>T;ENST00000564999:exon13:c.923-1G>T;ENST00000568740:exon12:c.848-1G>T;ENST00000537856:exon8:c.533-1G>T;ENST00000544241:exon9:c.710-1G>T;ENST00000561992:exon9:c.533-1G>T;ENST00000561831:exon6:c.443-1G>T;ENST00000565018:exon13:c.923-1G>T;ENST00000566279:exon11:c.743-1G>T;ENST00000566286:exon12:c.917-1G>T;ENST00000567880:exon10:c.743-1G>T;ENST00000564228:exon9:c.710-1G>T;ENST00000570287:exon6:c.443-1G>T;ENST00000398339:exon14:c.1229-1G>T;ENST00000564403:exon13:c.941-1G>T;ENST00000570177:exon8:c.533-1G>T;ENST00000570146:exon4:c.187-1G>T)	.	.	0.999990361384395	0.938
18	52928765	C	G	18	55261534	y	y	splicing	TCF4(NM_001243226:exon14:c.1229-1G>C;NM_001243230:exon12:c.917-1G>C;NM_001243234:exon6:c.443-1G>C;NM_001243232:exon9:c.710-1G>C;NM_001243236:exon6:c.443-1G>C;NM_001083962:exon13:c.923-1G>C;NM_003199:exon13:c.923-1G>C;NM_001243235:exon6:c.443-1G>C;NM_001243233:exon9:c.533-1G>C;NM_001243231:exon11:c.797-1G>C;NM_001243228:exon13:c.941-1G>C;NM_001243227:exon12:c.851-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.923-1G>C;ENST00000356073:exon13:c.923-1G>C;ENST00000568673:exon12:c.851-1G>C;ENST00000543082:exon11:c.797-1G>C;ENST00000457482:exon6:c.443-1G>C;ENST00000540999:exon12:c.851-1G>C;ENST00000537578:exon12:c.851-1G>C;ENST00000564999:exon13:c.923-1G>C;ENST00000568740:exon12:c.848-1G>C;ENST00000537856:exon8:c.533-1G>C;ENST00000544241:exon9:c.710-1G>C;ENST00000561992:exon9:c.533-1G>C;ENST00000561831:exon6:c.443-1G>C;ENST00000565018:exon13:c.923-1G>C;ENST00000566279:exon11:c.743-1G>C;ENST00000566286:exon12:c.917-1G>C;ENST00000567880:exon10:c.743-1G>C;ENST00000564228:exon9:c.710-1G>C;ENST00000570287:exon6:c.443-1G>C;ENST00000398339:exon14:c.1229-1G>C;ENST00000564403:exon13:c.941-1G>C;ENST00000570177:exon8:c.533-1G>C;ENST00000570146:exon4:c.187-1G>C)	.	.	0.999990361384395	0.938
18	52928765	C	T	18	55261534	y	y	splicing	TCF4(NM_001243226:exon14:c.1229-1G>A;NM_001243230:exon12:c.917-1G>A;NM_001243234:exon6:c.443-1G>A;NM_001243232:exon9:c.710-1G>A;NM_001243236:exon6:c.443-1G>A;NM_001083962:exon13:c.923-1G>A;NM_003199:exon13:c.923-1G>A;NM_001243235:exon6:c.443-1G>A;NM_001243233:exon9:c.533-1G>A;NM_001243231:exon11:c.797-1G>A;NM_001243228:exon13:c.941-1G>A;NM_001243227:exon12:c.851-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.923-1G>A;ENST00000356073:exon13:c.923-1G>A;ENST00000568673:exon12:c.851-1G>A;ENST00000543082:exon11:c.797-1G>A;ENST00000457482:exon6:c.443-1G>A;ENST00000540999:exon12:c.851-1G>A;ENST00000537578:exon12:c.851-1G>A;ENST00000564999:exon13:c.923-1G>A;ENST00000568740:exon12:c.848-1G>A;ENST00000537856:exon8:c.533-1G>A;ENST00000544241:exon9:c.710-1G>A;ENST00000561992:exon9:c.533-1G>A;ENST00000561831:exon6:c.443-1G>A;ENST00000565018:exon13:c.923-1G>A;ENST00000566279:exon11:c.743-1G>A;ENST00000566286:exon12:c.917-1G>A;ENST00000567880:exon10:c.743-1G>A;ENST00000564228:exon9:c.710-1G>A;ENST00000570287:exon6:c.443-1G>A;ENST00000398339:exon14:c.1229-1G>A;ENST00000564403:exon13:c.941-1G>A;ENST00000570177:exon8:c.533-1G>A;ENST00000570146:exon4:c.187-1G>A)	.	.	0.999990361384395	0.938
18	52928766	T	A	18	55261535	y	y	splicing	TCF4(NM_001243226:exon14:c.1229-2A>T;NM_001243230:exon12:c.917-2A>T;NM_001243234:exon6:c.443-2A>T;NM_001243232:exon9:c.710-2A>T;NM_001243236:exon6:c.443-2A>T;NM_001083962:exon13:c.923-2A>T;NM_003199:exon13:c.923-2A>T;NM_001243235:exon6:c.443-2A>T;NM_001243233:exon9:c.533-2A>T;NM_001243231:exon11:c.797-2A>T;NM_001243228:exon13:c.941-2A>T;NM_001243227:exon12:c.851-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.923-2A>T;ENST00000356073:exon13:c.923-2A>T;ENST00000568673:exon12:c.851-2A>T;ENST00000543082:exon11:c.797-2A>T;ENST00000457482:exon6:c.443-2A>T;ENST00000540999:exon12:c.851-2A>T;ENST00000537578:exon12:c.851-2A>T;ENST00000564999:exon13:c.923-2A>T;ENST00000568740:exon12:c.848-2A>T;ENST00000537856:exon8:c.533-2A>T;ENST00000544241:exon9:c.710-2A>T;ENST00000561992:exon9:c.533-2A>T;ENST00000561831:exon6:c.443-2A>T;ENST00000565018:exon13:c.923-2A>T;ENST00000566279:exon11:c.743-2A>T;ENST00000566286:exon12:c.917-2A>T;ENST00000567880:exon10:c.743-2A>T;ENST00000564228:exon9:c.710-2A>T;ENST00000570287:exon6:c.443-2A>T;ENST00000398339:exon14:c.1229-2A>T;ENST00000564403:exon13:c.941-2A>T;ENST00000570177:exon8:c.533-2A>T;ENST00000570146:exon4:c.187-2A>T)	.	.	0.999988247793601	0.93
18	52928766	T	C	18	55261535	y	y	splicing	TCF4(NM_001243226:exon14:c.1229-2A>G;NM_001243230:exon12:c.917-2A>G;NM_001243234:exon6:c.443-2A>G;NM_001243232:exon9:c.710-2A>G;NM_001243236:exon6:c.443-2A>G;NM_001083962:exon13:c.923-2A>G;NM_003199:exon13:c.923-2A>G;NM_001243235:exon6:c.443-2A>G;NM_001243233:exon9:c.533-2A>G;NM_001243231:exon11:c.797-2A>G;NM_001243228:exon13:c.941-2A>G;NM_001243227:exon12:c.851-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.923-2A>G;ENST00000356073:exon13:c.923-2A>G;ENST00000568673:exon12:c.851-2A>G;ENST00000543082:exon11:c.797-2A>G;ENST00000457482:exon6:c.443-2A>G;ENST00000540999:exon12:c.851-2A>G;ENST00000537578:exon12:c.851-2A>G;ENST00000564999:exon13:c.923-2A>G;ENST00000568740:exon12:c.848-2A>G;ENST00000537856:exon8:c.533-2A>G;ENST00000544241:exon9:c.710-2A>G;ENST00000561992:exon9:c.533-2A>G;ENST00000561831:exon6:c.443-2A>G;ENST00000565018:exon13:c.923-2A>G;ENST00000566279:exon11:c.743-2A>G;ENST00000566286:exon12:c.917-2A>G;ENST00000567880:exon10:c.743-2A>G;ENST00000564228:exon9:c.710-2A>G;ENST00000570287:exon6:c.443-2A>G;ENST00000398339:exon14:c.1229-2A>G;ENST00000564403:exon13:c.941-2A>G;ENST00000570177:exon8:c.533-2A>G;ENST00000570146:exon4:c.187-2A>G)	.	.	0.999988247793601	0.93
18	52928766	T	G	18	55261535	y	y	splicing	TCF4(NM_001243226:exon14:c.1229-2A>C;NM_001243230:exon12:c.917-2A>C;NM_001243234:exon6:c.443-2A>C;NM_001243232:exon9:c.710-2A>C;NM_001243236:exon6:c.443-2A>C;NM_001083962:exon13:c.923-2A>C;NM_003199:exon13:c.923-2A>C;NM_001243235:exon6:c.443-2A>C;NM_001243233:exon9:c.533-2A>C;NM_001243231:exon11:c.797-2A>C;NM_001243228:exon13:c.941-2A>C;NM_001243227:exon12:c.851-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon13:c.923-2A>C;ENST00000356073:exon13:c.923-2A>C;ENST00000568673:exon12:c.851-2A>C;ENST00000543082:exon11:c.797-2A>C;ENST00000457482:exon6:c.443-2A>C;ENST00000540999:exon12:c.851-2A>C;ENST00000537578:exon12:c.851-2A>C;ENST00000564999:exon13:c.923-2A>C;ENST00000568740:exon12:c.848-2A>C;ENST00000537856:exon8:c.533-2A>C;ENST00000544241:exon9:c.710-2A>C;ENST00000561992:exon9:c.533-2A>C;ENST00000561831:exon6:c.443-2A>C;ENST00000565018:exon13:c.923-2A>C;ENST00000566279:exon11:c.743-2A>C;ENST00000566286:exon12:c.917-2A>C;ENST00000567880:exon10:c.743-2A>C;ENST00000564228:exon9:c.710-2A>C;ENST00000570287:exon6:c.443-2A>C;ENST00000398339:exon14:c.1229-2A>C;ENST00000564403:exon13:c.941-2A>C;ENST00000570177:exon8:c.533-2A>C;ENST00000570146:exon4:c.187-2A>C)	.	.	0.999988247793601	0.93
18	52928767	G	A	18	55261536	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99596508752394	0.478
18	52928767	G	C	18	55261536	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999959131443684	0.972
18	52928767	G	T	18	55261536	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999891800843239	0.954
18	52928768	C	A	18	55261537	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0307812556100488	0.104
18	52928768	C	G	18	55261537	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00731097439074033	0.09
18	52928768	C	T	18	55261537	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0691813848604931	0.118
18	52928769	A	C	18	55261538	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.602464389631499	0.566
18	52928769	A	G	18	55261538	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.142666100211469	0.31
18	52928769	A	T	18	55261538	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999832121627546	0.976
18	52928770	A	C	18	55261539	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00722618175403371	0.13
18	52928770	A	G	18	55261539	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.4240958831825E-4	0.03
18	52928770	A	T	18	55261539	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0116789785591239	0.1
18	52928771	A	C	18	55261540	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.715414366605119	0.424
18	52928771	A	G	18	55261540	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.208995228976168	0.288
18	52928771	A	T	18	55261540	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.879252873721829	0.528
18	52928772	A	C	18	55261541	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.925212077158008	0.51
18	52928772	A	G	18	55261541	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.166756959726171	0.386
18	52928772	A	T	18	55261541	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.930445598183001	0.568
18	52928773	A	C	18	55261542	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.985462866587127	0.596
18	52928773	A	G	18	55261542	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.856219229254249	0.606
18	52928773	A	T	18	55261542	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.982670671581453	0.586
18	52928774	C	A	18	55261543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.984461268942703	0.76
18	52928774	C	G	18	55261543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.98550977574978	0.78
18	52928774	C	T	18	55261543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.989665513962846	0.856
18	52928775	A	C	18	55261544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.946585143721203	0.676
18	52928775	A	G	18	55261544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.863690679986392	0.694
18	52928775	A	T	18	55261544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999973173001756	0.976
18	52928776	A	C	18	55261545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.965646653780975	0.578
18	52928776	A	G	18	55261545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.822846263221034	0.616
18	52928776	A	T	18	55261545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.957343508514955	0.6
18	52937054	T	A	18	55269823	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.23440742830898E-5	0.03
18	52937054	T	C	18	55269823	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.7425223375626E-4	0.028
18	52937054	T	G	18	55269823	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.20829820065675E-4	0.032
18	52937055	G	A	18	55269824	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.0508842555909E-5	0.01
18	52937055	G	C	18	55269824	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.13408409378064E-4	0.004
18	52937055	G	T	18	55269824	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.91285012458584E-4	0.006
18	52937056	A	C	18	55269825	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.86765135638324	0.634
18	52937056	A	G	18	55269825	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.638304988905522	0.518
18	52937056	A	T	18	55269825	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.967653616091786	0.782
18	52937057	C	A	18	55269826	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99996802913377	0.9
18	52937057	C	G	18	55269826	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999970970072232	0.988
18	52937057	C	T	18	55269826	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999991277416566	0.974
18	52937058	T	A	18	55269827	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999170384392343	0.896
18	52937058	T	C	18	55269827	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996317956449472	0.906
18	52937058	T	G	18	55269827	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998048489501738	0.884
18	52937059	C	A	18	55269828	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.975379883070885	0.752
18	52937059	C	G	18	55269828	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.989876181701867	0.824
18	52937059	C	T	18	55269828	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00477224427258453	0.162
18	52937060	A	C	18	55269829	y	y	splicing	TCF4(NM_001243226:exon13:c.1228+2T>G;NM_001243230:exon11:c.916+2T>G;NM_001243234:exon5:c.442+2T>G;NM_001243232:exon8:c.709+2T>G;NM_001243236:exon5:c.442+2T>G;NM_001083962:exon12:c.922+2T>G;NM_003199:exon12:c.922+2T>G;NM_001243235:exon5:c.442+2T>G;NM_001243233:exon8:c.532+2T>G;NM_001243231:exon10:c.796+2T>G;NM_001243228:exon12:c.940+2T>G;NM_001243227:exon11:c.850+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.922+2T>G;ENST00000356073:exon12:c.922+2T>G;ENST00000568673:exon11:c.850+2T>G;ENST00000543082:exon10:c.796+2T>G;ENST00000457482:exon5:c.442+2T>G;ENST00000540999:exon11:c.850+2T>G;ENST00000537578:exon11:c.850+2T>G;ENST00000564999:exon12:c.922+2T>G;ENST00000568740:exon11:c.847+2T>G;ENST00000537856:exon7:c.532+2T>G;ENST00000544241:exon8:c.709+2T>G;ENST00000561992:exon8:c.532+2T>G;ENST00000561831:exon5:c.442+2T>G;ENST00000565018:exon12:c.922+2T>G;ENST00000566279:exon10:c.742+2T>G;ENST00000566286:exon11:c.916+2T>G;ENST00000567880:exon9:c.742+2T>G;ENST00000564228:exon8:c.709+2T>G;ENST00000570287:exon5:c.442+2T>G;ENST00000398339:exon13:c.1228+2T>G;ENST00000564403:exon12:c.940+2T>G;ENST00000570177:exon7:c.532+2T>G;ENST00000570146:exon3:c.186+2T>G)	.	.	0.999988247793601	0.932
18	52937060	A	G	18	55269829	y	y	splicing	TCF4(NM_001243226:exon13:c.1228+2T>C;NM_001243230:exon11:c.916+2T>C;NM_001243234:exon5:c.442+2T>C;NM_001243232:exon8:c.709+2T>C;NM_001243236:exon5:c.442+2T>C;NM_001083962:exon12:c.922+2T>C;NM_003199:exon12:c.922+2T>C;NM_001243235:exon5:c.442+2T>C;NM_001243233:exon8:c.532+2T>C;NM_001243231:exon10:c.796+2T>C;NM_001243228:exon12:c.940+2T>C;NM_001243227:exon11:c.850+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.922+2T>C;ENST00000356073:exon12:c.922+2T>C;ENST00000568673:exon11:c.850+2T>C;ENST00000543082:exon10:c.796+2T>C;ENST00000457482:exon5:c.442+2T>C;ENST00000540999:exon11:c.850+2T>C;ENST00000537578:exon11:c.850+2T>C;ENST00000564999:exon12:c.922+2T>C;ENST00000568740:exon11:c.847+2T>C;ENST00000537856:exon7:c.532+2T>C;ENST00000544241:exon8:c.709+2T>C;ENST00000561992:exon8:c.532+2T>C;ENST00000561831:exon5:c.442+2T>C;ENST00000565018:exon12:c.922+2T>C;ENST00000566279:exon10:c.742+2T>C;ENST00000566286:exon11:c.916+2T>C;ENST00000567880:exon9:c.742+2T>C;ENST00000564228:exon8:c.709+2T>C;ENST00000570287:exon5:c.442+2T>C;ENST00000398339:exon13:c.1228+2T>C;ENST00000564403:exon12:c.940+2T>C;ENST00000570177:exon7:c.532+2T>C;ENST00000570146:exon3:c.186+2T>C)	.	.	0.99991520749976	0.856
18	52937060	A	T	18	55269829	y	y	splicing	TCF4(NM_001243226:exon13:c.1228+2T>A;NM_001243230:exon11:c.916+2T>A;NM_001243234:exon5:c.442+2T>A;NM_001243232:exon8:c.709+2T>A;NM_001243236:exon5:c.442+2T>A;NM_001083962:exon12:c.922+2T>A;NM_003199:exon12:c.922+2T>A;NM_001243235:exon5:c.442+2T>A;NM_001243233:exon8:c.532+2T>A;NM_001243231:exon10:c.796+2T>A;NM_001243228:exon12:c.940+2T>A;NM_001243227:exon11:c.850+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.922+2T>A;ENST00000356073:exon12:c.922+2T>A;ENST00000568673:exon11:c.850+2T>A;ENST00000543082:exon10:c.796+2T>A;ENST00000457482:exon5:c.442+2T>A;ENST00000540999:exon11:c.850+2T>A;ENST00000537578:exon11:c.850+2T>A;ENST00000564999:exon12:c.922+2T>A;ENST00000568740:exon11:c.847+2T>A;ENST00000537856:exon7:c.532+2T>A;ENST00000544241:exon8:c.709+2T>A;ENST00000561992:exon8:c.532+2T>A;ENST00000561831:exon5:c.442+2T>A;ENST00000565018:exon12:c.922+2T>A;ENST00000566279:exon10:c.742+2T>A;ENST00000566286:exon11:c.916+2T>A;ENST00000567880:exon9:c.742+2T>A;ENST00000564228:exon8:c.709+2T>A;ENST00000570287:exon5:c.442+2T>A;ENST00000398339:exon13:c.1228+2T>A;ENST00000564403:exon12:c.940+2T>A;ENST00000570177:exon7:c.532+2T>A;ENST00000570146:exon3:c.186+2T>A)	.	.	0.999988247793601	0.932
18	52937061	C	A	18	55269830	y	y	splicing	TCF4(NM_001243226:exon13:c.1228+1G>T;NM_001243230:exon11:c.916+1G>T;NM_001243234:exon5:c.442+1G>T;NM_001243232:exon8:c.709+1G>T;NM_001243236:exon5:c.442+1G>T;NM_001083962:exon12:c.922+1G>T;NM_003199:exon12:c.922+1G>T;NM_001243235:exon5:c.442+1G>T;NM_001243233:exon8:c.532+1G>T;NM_001243231:exon10:c.796+1G>T;NM_001243228:exon12:c.940+1G>T;NM_001243227:exon11:c.850+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.922+1G>T;ENST00000356073:exon12:c.922+1G>T;ENST00000568673:exon11:c.850+1G>T;ENST00000543082:exon10:c.796+1G>T;ENST00000457482:exon5:c.442+1G>T;ENST00000540999:exon11:c.850+1G>T;ENST00000537578:exon11:c.850+1G>T;ENST00000564999:exon12:c.922+1G>T;ENST00000568740:exon11:c.847+1G>T;ENST00000537856:exon7:c.532+1G>T;ENST00000544241:exon8:c.709+1G>T;ENST00000561992:exon8:c.532+1G>T;ENST00000561831:exon5:c.442+1G>T;ENST00000565018:exon12:c.922+1G>T;ENST00000566279:exon10:c.742+1G>T;ENST00000566286:exon11:c.916+1G>T;ENST00000567880:exon9:c.742+1G>T;ENST00000564228:exon8:c.709+1G>T;ENST00000570287:exon5:c.442+1G>T;ENST00000398339:exon13:c.1228+1G>T;ENST00000564403:exon12:c.940+1G>T;ENST00000570177:exon7:c.532+1G>T;ENST00000570146:exon3:c.186+1G>T)	.	.	0.999989072007339	0.934
18	52937061	C	G	18	55269830	y	y	splicing	TCF4(NM_001243226:exon13:c.1228+1G>C;NM_001243230:exon11:c.916+1G>C;NM_001243234:exon5:c.442+1G>C;NM_001243232:exon8:c.709+1G>C;NM_001243236:exon5:c.442+1G>C;NM_001083962:exon12:c.922+1G>C;NM_003199:exon12:c.922+1G>C;NM_001243235:exon5:c.442+1G>C;NM_001243233:exon8:c.532+1G>C;NM_001243231:exon10:c.796+1G>C;NM_001243228:exon12:c.940+1G>C;NM_001243227:exon11:c.850+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.922+1G>C;ENST00000356073:exon12:c.922+1G>C;ENST00000568673:exon11:c.850+1G>C;ENST00000543082:exon10:c.796+1G>C;ENST00000457482:exon5:c.442+1G>C;ENST00000540999:exon11:c.850+1G>C;ENST00000537578:exon11:c.850+1G>C;ENST00000564999:exon12:c.922+1G>C;ENST00000568740:exon11:c.847+1G>C;ENST00000537856:exon7:c.532+1G>C;ENST00000544241:exon8:c.709+1G>C;ENST00000561992:exon8:c.532+1G>C;ENST00000561831:exon5:c.442+1G>C;ENST00000565018:exon12:c.922+1G>C;ENST00000566279:exon10:c.742+1G>C;ENST00000566286:exon11:c.916+1G>C;ENST00000567880:exon9:c.742+1G>C;ENST00000564228:exon8:c.709+1G>C;ENST00000570287:exon5:c.442+1G>C;ENST00000398339:exon13:c.1228+1G>C;ENST00000564403:exon12:c.940+1G>C;ENST00000570177:exon7:c.532+1G>C;ENST00000570146:exon3:c.186+1G>C)	.	.	0.999989072007339	0.934
18	52937061	C	T	18	55269830	y	y	splicing	TCF4(NM_001243226:exon13:c.1228+1G>A;NM_001243230:exon11:c.916+1G>A;NM_001243234:exon5:c.442+1G>A;NM_001243232:exon8:c.709+1G>A;NM_001243236:exon5:c.442+1G>A;NM_001083962:exon12:c.922+1G>A;NM_003199:exon12:c.922+1G>A;NM_001243235:exon5:c.442+1G>A;NM_001243233:exon8:c.532+1G>A;NM_001243231:exon10:c.796+1G>A;NM_001243228:exon12:c.940+1G>A;NM_001243227:exon11:c.850+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.922+1G>A;ENST00000356073:exon12:c.922+1G>A;ENST00000568673:exon11:c.850+1G>A;ENST00000543082:exon10:c.796+1G>A;ENST00000457482:exon5:c.442+1G>A;ENST00000540999:exon11:c.850+1G>A;ENST00000537578:exon11:c.850+1G>A;ENST00000564999:exon12:c.922+1G>A;ENST00000568740:exon11:c.847+1G>A;ENST00000537856:exon7:c.532+1G>A;ENST00000544241:exon8:c.709+1G>A;ENST00000561992:exon8:c.532+1G>A;ENST00000561831:exon5:c.442+1G>A;ENST00000565018:exon12:c.922+1G>A;ENST00000566279:exon10:c.742+1G>A;ENST00000566286:exon11:c.916+1G>A;ENST00000567880:exon9:c.742+1G>A;ENST00000564228:exon8:c.709+1G>A;ENST00000570287:exon5:c.442+1G>A;ENST00000398339:exon13:c.1228+1G>A;ENST00000564403:exon12:c.940+1G>A;ENST00000570177:exon7:c.532+1G>A;ENST00000570146:exon3:c.186+1G>A)	.	.	0.999989072007339	0.934
18	52937062	C	A	18	55269831	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G442T:p.A148S;TCF4:NM_001243235:exon4:c.G442T:p.A148S;TCF4:NM_001243231:exon9:c.G796T:p.A266S;TCF4:NM_003199:exon11:c.G922T:p.A308S;TCF4:NM_001243230:exon10:c.G916T:p.A306S;TCF4:NM_001243232:exon7:c.G709T:p.A237S;TCF4:NM_001083962:exon11:c.G922T:p.A308S;TCF4:NM_001243227:exon10:c.G850T:p.A284S;TCF4:NM_001243234:exon4:c.G442T:p.A148S;TCF4:NM_001243226:exon12:c.G1228T:p.A410S;TCF4:NM_001243228:exon11:c.G940T:p.A314S;TCF4:NM_001243233:exon7:c.G532T:p.A178S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G742T:p.A248S;ENSG00000196628:ENST00000561831:exon4:c.G442T:p.A148S;ENSG00000196628:ENST00000564999:exon11:c.G922T:p.A308S;ENSG00000196628:ENST00000568740:exon10:c.G847T:p.A283S;ENSG00000196628:ENST00000561992:exon7:c.G532T:p.A178S;ENSG00000196628:ENST00000565018:exon11:c.G922T:p.A308S;ENSG00000196628:ENST00000354452:exon11:c.G922T:p.A308S;ENSG00000196628:ENST00000566286:exon10:c.G916T:p.A306S;ENSG00000196628:ENST00000356073:exon11:c.G922T:p.A308S;ENSG00000196628:ENST00000543082:exon9:c.G796T:p.A266S;ENSG00000196628:ENST00000570287:exon4:c.G442T:p.A148S;ENSG00000196628:ENST00000544241:exon7:c.G709T:p.A237S;ENSG00000196628:ENST00000537578:exon10:c.G850T:p.A284S;ENSG00000196628:ENST00000564403:exon11:c.G940T:p.A314S;ENSG00000196628:ENST00000570177:exon6:c.G532T:p.A178S;ENSG00000196628:ENST00000457482:exon4:c.G442T:p.A148S;ENSG00000196628:ENST00000568673:exon10:c.G850T:p.A284S;ENSG00000196628:ENST00000540999:exon10:c.G850T:p.A284S;ENSG00000196628:ENST00000537856:exon6:c.G532T:p.A178S;ENSG00000196628:ENST00000398339:exon12:c.G1228T:p.A410S;ENSG00000196628:ENST00000564228:exon7:c.G709T:p.A237S;ENSG00000196628:ENST00000567880:exon8:c.G742T:p.A248S;	0.999990080476623	0.994
18	52937062	C	G	18	55269831	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G442C:p.A148P;TCF4:NM_001243235:exon4:c.G442C:p.A148P;TCF4:NM_001243231:exon9:c.G796C:p.A266P;TCF4:NM_003199:exon11:c.G922C:p.A308P;TCF4:NM_001243230:exon10:c.G916C:p.A306P;TCF4:NM_001243232:exon7:c.G709C:p.A237P;TCF4:NM_001083962:exon11:c.G922C:p.A308P;TCF4:NM_001243227:exon10:c.G850C:p.A284P;TCF4:NM_001243234:exon4:c.G442C:p.A148P;TCF4:NM_001243226:exon12:c.G1228C:p.A410P;TCF4:NM_001243228:exon11:c.G940C:p.A314P;TCF4:NM_001243233:exon7:c.G532C:p.A178P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G742C:p.A248P;ENSG00000196628:ENST00000561831:exon4:c.G442C:p.A148P;ENSG00000196628:ENST00000564999:exon11:c.G922C:p.A308P;ENSG00000196628:ENST00000568740:exon10:c.G847C:p.A283P;ENSG00000196628:ENST00000561992:exon7:c.G532C:p.A178P;ENSG00000196628:ENST00000565018:exon11:c.G922C:p.A308P;ENSG00000196628:ENST00000354452:exon11:c.G922C:p.A308P;ENSG00000196628:ENST00000566286:exon10:c.G916C:p.A306P;ENSG00000196628:ENST00000356073:exon11:c.G922C:p.A308P;ENSG00000196628:ENST00000543082:exon9:c.G796C:p.A266P;ENSG00000196628:ENST00000570287:exon4:c.G442C:p.A148P;ENSG00000196628:ENST00000544241:exon7:c.G709C:p.A237P;ENSG00000196628:ENST00000537578:exon10:c.G850C:p.A284P;ENSG00000196628:ENST00000564403:exon11:c.G940C:p.A314P;ENSG00000196628:ENST00000570177:exon6:c.G532C:p.A178P;ENSG00000196628:ENST00000457482:exon4:c.G442C:p.A148P;ENSG00000196628:ENST00000568673:exon10:c.G850C:p.A284P;ENSG00000196628:ENST00000540999:exon10:c.G850C:p.A284P;ENSG00000196628:ENST00000537856:exon6:c.G532C:p.A178P;ENSG00000196628:ENST00000398339:exon12:c.G1228C:p.A410P;ENSG00000196628:ENST00000564228:exon7:c.G709C:p.A237P;ENSG00000196628:ENST00000567880:exon8:c.G742C:p.A248P;	0.999989205892409	0.97
18	52937062	C	T	18	55269831	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G442A:p.A148T;TCF4:NM_001243235:exon4:c.G442A:p.A148T;TCF4:NM_001243231:exon9:c.G796A:p.A266T;TCF4:NM_003199:exon11:c.G922A:p.A308T;TCF4:NM_001243230:exon10:c.G916A:p.A306T;TCF4:NM_001243232:exon7:c.G709A:p.A237T;TCF4:NM_001083962:exon11:c.G922A:p.A308T;TCF4:NM_001243227:exon10:c.G850A:p.A284T;TCF4:NM_001243234:exon4:c.G442A:p.A148T;TCF4:NM_001243226:exon12:c.G1228A:p.A410T;TCF4:NM_001243228:exon11:c.G940A:p.A314T;TCF4:NM_001243233:exon7:c.G532A:p.A178T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G742A:p.A248T;ENSG00000196628:ENST00000561831:exon4:c.G442A:p.A148T;ENSG00000196628:ENST00000564999:exon11:c.G922A:p.A308T;ENSG00000196628:ENST00000568740:exon10:c.G847A:p.A283T;ENSG00000196628:ENST00000561992:exon7:c.G532A:p.A178T;ENSG00000196628:ENST00000565018:exon11:c.G922A:p.A308T;ENSG00000196628:ENST00000354452:exon11:c.G922A:p.A308T;ENSG00000196628:ENST00000566286:exon10:c.G916A:p.A306T;ENSG00000196628:ENST00000356073:exon11:c.G922A:p.A308T;ENSG00000196628:ENST00000543082:exon9:c.G796A:p.A266T;ENSG00000196628:ENST00000570287:exon4:c.G442A:p.A148T;ENSG00000196628:ENST00000544241:exon7:c.G709A:p.A237T;ENSG00000196628:ENST00000537578:exon10:c.G850A:p.A284T;ENSG00000196628:ENST00000564403:exon11:c.G940A:p.A314T;ENSG00000196628:ENST00000570177:exon6:c.G532A:p.A178T;ENSG00000196628:ENST00000457482:exon4:c.G442A:p.A148T;ENSG00000196628:ENST00000568673:exon10:c.G850A:p.A284T;ENSG00000196628:ENST00000540999:exon10:c.G850A:p.A284T;ENSG00000196628:ENST00000537856:exon6:c.G532A:p.A178T;ENSG00000196628:ENST00000398339:exon12:c.G1228A:p.A410T;ENSG00000196628:ENST00000564228:exon7:c.G709A:p.A237T;ENSG00000196628:ENST00000567880:exon8:c.G742A:p.A248T;	0.999980229782651	0.962
18	52937063	C	A	18	55269832	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G441T:p.M147I;TCF4:NM_001243235:exon4:c.G441T:p.M147I;TCF4:NM_001243231:exon9:c.G795T:p.M265I;TCF4:NM_003199:exon11:c.G921T:p.M307I;TCF4:NM_001243230:exon10:c.G915T:p.M305I;TCF4:NM_001243232:exon7:c.G708T:p.M236I;TCF4:NM_001083962:exon11:c.G921T:p.M307I;TCF4:NM_001243227:exon10:c.G849T:p.M283I;TCF4:NM_001243234:exon4:c.G441T:p.M147I;TCF4:NM_001243226:exon12:c.G1227T:p.M409I;TCF4:NM_001243228:exon11:c.G939T:p.M313I;TCF4:NM_001243233:exon7:c.G531T:p.M177I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G741T:p.M247I;ENSG00000196628:ENST00000561831:exon4:c.G441T:p.M147I;ENSG00000196628:ENST00000564999:exon11:c.G921T:p.M307I;ENSG00000196628:ENST00000568740:exon10:c.G846T:p.M282I;ENSG00000196628:ENST00000561992:exon7:c.G531T:p.M177I;ENSG00000196628:ENST00000565018:exon11:c.G921T:p.M307I;ENSG00000196628:ENST00000354452:exon11:c.G921T:p.M307I;ENSG00000196628:ENST00000566286:exon10:c.G915T:p.M305I;ENSG00000196628:ENST00000356073:exon11:c.G921T:p.M307I;ENSG00000196628:ENST00000543082:exon9:c.G795T:p.M265I;ENSG00000196628:ENST00000570287:exon4:c.G441T:p.M147I;ENSG00000196628:ENST00000544241:exon7:c.G708T:p.M236I;ENSG00000196628:ENST00000537578:exon10:c.G849T:p.M283I;ENSG00000196628:ENST00000564403:exon11:c.G939T:p.M313I;ENSG00000196628:ENST00000570177:exon6:c.G531T:p.M177I;ENSG00000196628:ENST00000457482:exon4:c.G441T:p.M147I;ENSG00000196628:ENST00000568673:exon10:c.G849T:p.M283I;ENSG00000196628:ENST00000540999:exon10:c.G849T:p.M283I;ENSG00000196628:ENST00000537856:exon6:c.G531T:p.M177I;ENSG00000196628:ENST00000398339:exon12:c.G1227T:p.M409I;ENSG00000196628:ENST00000564228:exon7:c.G708T:p.M236I;ENSG00000196628:ENST00000567880:exon8:c.G741T:p.M247I;	0.992952163259266	0.8
18	52937063	C	G	18	55269832	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G441C:p.M147I;TCF4:NM_001243235:exon4:c.G441C:p.M147I;TCF4:NM_001243231:exon9:c.G795C:p.M265I;TCF4:NM_003199:exon11:c.G921C:p.M307I;TCF4:NM_001243230:exon10:c.G915C:p.M305I;TCF4:NM_001243232:exon7:c.G708C:p.M236I;TCF4:NM_001083962:exon11:c.G921C:p.M307I;TCF4:NM_001243227:exon10:c.G849C:p.M283I;TCF4:NM_001243234:exon4:c.G441C:p.M147I;TCF4:NM_001243226:exon12:c.G1227C:p.M409I;TCF4:NM_001243228:exon11:c.G939C:p.M313I;TCF4:NM_001243233:exon7:c.G531C:p.M177I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G741C:p.M247I;ENSG00000196628:ENST00000561831:exon4:c.G441C:p.M147I;ENSG00000196628:ENST00000564999:exon11:c.G921C:p.M307I;ENSG00000196628:ENST00000568740:exon10:c.G846C:p.M282I;ENSG00000196628:ENST00000561992:exon7:c.G531C:p.M177I;ENSG00000196628:ENST00000565018:exon11:c.G921C:p.M307I;ENSG00000196628:ENST00000354452:exon11:c.G921C:p.M307I;ENSG00000196628:ENST00000566286:exon10:c.G915C:p.M305I;ENSG00000196628:ENST00000356073:exon11:c.G921C:p.M307I;ENSG00000196628:ENST00000543082:exon9:c.G795C:p.M265I;ENSG00000196628:ENST00000570287:exon4:c.G441C:p.M147I;ENSG00000196628:ENST00000544241:exon7:c.G708C:p.M236I;ENSG00000196628:ENST00000537578:exon10:c.G849C:p.M283I;ENSG00000196628:ENST00000564403:exon11:c.G939C:p.M313I;ENSG00000196628:ENST00000570177:exon6:c.G531C:p.M177I;ENSG00000196628:ENST00000457482:exon4:c.G441C:p.M147I;ENSG00000196628:ENST00000568673:exon10:c.G849C:p.M283I;ENSG00000196628:ENST00000540999:exon10:c.G849C:p.M283I;ENSG00000196628:ENST00000537856:exon6:c.G531C:p.M177I;ENSG00000196628:ENST00000398339:exon12:c.G1227C:p.M409I;ENSG00000196628:ENST00000564228:exon7:c.G708C:p.M236I;ENSG00000196628:ENST00000567880:exon8:c.G741C:p.M247I;	0.98967185441463	0.848
18	52937063	C	T	18	55269832	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G441A:p.M147I;TCF4:NM_001243235:exon4:c.G441A:p.M147I;TCF4:NM_001243231:exon9:c.G795A:p.M265I;TCF4:NM_003199:exon11:c.G921A:p.M307I;TCF4:NM_001243230:exon10:c.G915A:p.M305I;TCF4:NM_001243232:exon7:c.G708A:p.M236I;TCF4:NM_001083962:exon11:c.G921A:p.M307I;TCF4:NM_001243227:exon10:c.G849A:p.M283I;TCF4:NM_001243234:exon4:c.G441A:p.M147I;TCF4:NM_001243226:exon12:c.G1227A:p.M409I;TCF4:NM_001243228:exon11:c.G939A:p.M313I;TCF4:NM_001243233:exon7:c.G531A:p.M177I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G741A:p.M247I;ENSG00000196628:ENST00000561831:exon4:c.G441A:p.M147I;ENSG00000196628:ENST00000564999:exon11:c.G921A:p.M307I;ENSG00000196628:ENST00000568740:exon10:c.G846A:p.M282I;ENSG00000196628:ENST00000561992:exon7:c.G531A:p.M177I;ENSG00000196628:ENST00000565018:exon11:c.G921A:p.M307I;ENSG00000196628:ENST00000354452:exon11:c.G921A:p.M307I;ENSG00000196628:ENST00000566286:exon10:c.G915A:p.M305I;ENSG00000196628:ENST00000356073:exon11:c.G921A:p.M307I;ENSG00000196628:ENST00000543082:exon9:c.G795A:p.M265I;ENSG00000196628:ENST00000570287:exon4:c.G441A:p.M147I;ENSG00000196628:ENST00000544241:exon7:c.G708A:p.M236I;ENSG00000196628:ENST00000537578:exon10:c.G849A:p.M283I;ENSG00000196628:ENST00000564403:exon11:c.G939A:p.M313I;ENSG00000196628:ENST00000570177:exon6:c.G531A:p.M177I;ENSG00000196628:ENST00000457482:exon4:c.G441A:p.M147I;ENSG00000196628:ENST00000568673:exon10:c.G849A:p.M283I;ENSG00000196628:ENST00000540999:exon10:c.G849A:p.M283I;ENSG00000196628:ENST00000537856:exon6:c.G531A:p.M177I;ENSG00000196628:ENST00000398339:exon12:c.G1227A:p.M409I;ENSG00000196628:ENST00000564228:exon7:c.G708A:p.M236I;ENSG00000196628:ENST00000567880:exon8:c.G741A:p.M247I;	0.972309589324472	0.664
18	52937064	A	C	18	55269833	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.T440G:p.M147R;TCF4:NM_001243235:exon4:c.T440G:p.M147R;TCF4:NM_001243231:exon9:c.T794G:p.M265R;TCF4:NM_003199:exon11:c.T920G:p.M307R;TCF4:NM_001243230:exon10:c.T914G:p.M305R;TCF4:NM_001243232:exon7:c.T707G:p.M236R;TCF4:NM_001083962:exon11:c.T920G:p.M307R;TCF4:NM_001243227:exon10:c.T848G:p.M283R;TCF4:NM_001243234:exon4:c.T440G:p.M147R;TCF4:NM_001243226:exon12:c.T1226G:p.M409R;TCF4:NM_001243228:exon11:c.T938G:p.M313R;TCF4:NM_001243233:exon7:c.T530G:p.M177R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.T740G:p.M247R;ENSG00000196628:ENST00000561831:exon4:c.T440G:p.M147R;ENSG00000196628:ENST00000564999:exon11:c.T920G:p.M307R;ENSG00000196628:ENST00000568740:exon10:c.T845G:p.M282R;ENSG00000196628:ENST00000561992:exon7:c.T530G:p.M177R;ENSG00000196628:ENST00000565018:exon11:c.T920G:p.M307R;ENSG00000196628:ENST00000354452:exon11:c.T920G:p.M307R;ENSG00000196628:ENST00000566286:exon10:c.T914G:p.M305R;ENSG00000196628:ENST00000356073:exon11:c.T920G:p.M307R;ENSG00000196628:ENST00000543082:exon9:c.T794G:p.M265R;ENSG00000196628:ENST00000570287:exon4:c.T440G:p.M147R;ENSG00000196628:ENST00000544241:exon7:c.T707G:p.M236R;ENSG00000196628:ENST00000537578:exon10:c.T848G:p.M283R;ENSG00000196628:ENST00000564403:exon11:c.T938G:p.M313R;ENSG00000196628:ENST00000570177:exon6:c.T530G:p.M177R;ENSG00000196628:ENST00000457482:exon4:c.T440G:p.M147R;ENSG00000196628:ENST00000568673:exon10:c.T848G:p.M283R;ENSG00000196628:ENST00000540999:exon10:c.T848G:p.M283R;ENSG00000196628:ENST00000537856:exon6:c.T530G:p.M177R;ENSG00000196628:ENST00000398339:exon12:c.T1226G:p.M409R;ENSG00000196628:ENST00000564228:exon7:c.T707G:p.M236R;ENSG00000196628:ENST00000567880:exon8:c.T740G:p.M247R;	0.809133681994773	0.568
18	52937064	A	G	18	55269833	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.T440C:p.M147T;TCF4:NM_001243235:exon4:c.T440C:p.M147T;TCF4:NM_001243231:exon9:c.T794C:p.M265T;TCF4:NM_003199:exon11:c.T920C:p.M307T;TCF4:NM_001243230:exon10:c.T914C:p.M305T;TCF4:NM_001243232:exon7:c.T707C:p.M236T;TCF4:NM_001083962:exon11:c.T920C:p.M307T;TCF4:NM_001243227:exon10:c.T848C:p.M283T;TCF4:NM_001243234:exon4:c.T440C:p.M147T;TCF4:NM_001243226:exon12:c.T1226C:p.M409T;TCF4:NM_001243228:exon11:c.T938C:p.M313T;TCF4:NM_001243233:exon7:c.T530C:p.M177T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.T740C:p.M247T;ENSG00000196628:ENST00000561831:exon4:c.T440C:p.M147T;ENSG00000196628:ENST00000564999:exon11:c.T920C:p.M307T;ENSG00000196628:ENST00000568740:exon10:c.T845C:p.M282T;ENSG00000196628:ENST00000561992:exon7:c.T530C:p.M177T;ENSG00000196628:ENST00000565018:exon11:c.T920C:p.M307T;ENSG00000196628:ENST00000354452:exon11:c.T920C:p.M307T;ENSG00000196628:ENST00000566286:exon10:c.T914C:p.M305T;ENSG00000196628:ENST00000356073:exon11:c.T920C:p.M307T;ENSG00000196628:ENST00000543082:exon9:c.T794C:p.M265T;ENSG00000196628:ENST00000570287:exon4:c.T440C:p.M147T;ENSG00000196628:ENST00000544241:exon7:c.T707C:p.M236T;ENSG00000196628:ENST00000537578:exon10:c.T848C:p.M283T;ENSG00000196628:ENST00000564403:exon11:c.T938C:p.M313T;ENSG00000196628:ENST00000570177:exon6:c.T530C:p.M177T;ENSG00000196628:ENST00000457482:exon4:c.T440C:p.M147T;ENSG00000196628:ENST00000568673:exon10:c.T848C:p.M283T;ENSG00000196628:ENST00000540999:exon10:c.T848C:p.M283T;ENSG00000196628:ENST00000537856:exon6:c.T530C:p.M177T;ENSG00000196628:ENST00000398339:exon12:c.T1226C:p.M409T;ENSG00000196628:ENST00000564228:exon7:c.T707C:p.M236T;ENSG00000196628:ENST00000567880:exon8:c.T740C:p.M247T;	0.606682670732613	0.528
18	52937064	A	T	18	55269833	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.T440A:p.M147K;TCF4:NM_001243235:exon4:c.T440A:p.M147K;TCF4:NM_001243231:exon9:c.T794A:p.M265K;TCF4:NM_003199:exon11:c.T920A:p.M307K;TCF4:NM_001243230:exon10:c.T914A:p.M305K;TCF4:NM_001243232:exon7:c.T707A:p.M236K;TCF4:NM_001083962:exon11:c.T920A:p.M307K;TCF4:NM_001243227:exon10:c.T848A:p.M283K;TCF4:NM_001243234:exon4:c.T440A:p.M147K;TCF4:NM_001243226:exon12:c.T1226A:p.M409K;TCF4:NM_001243228:exon11:c.T938A:p.M313K;TCF4:NM_001243233:exon7:c.T530A:p.M177K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.T740A:p.M247K;ENSG00000196628:ENST00000561831:exon4:c.T440A:p.M147K;ENSG00000196628:ENST00000564999:exon11:c.T920A:p.M307K;ENSG00000196628:ENST00000568740:exon10:c.T845A:p.M282K;ENSG00000196628:ENST00000561992:exon7:c.T530A:p.M177K;ENSG00000196628:ENST00000565018:exon11:c.T920A:p.M307K;ENSG00000196628:ENST00000354452:exon11:c.T920A:p.M307K;ENSG00000196628:ENST00000566286:exon10:c.T914A:p.M305K;ENSG00000196628:ENST00000356073:exon11:c.T920A:p.M307K;ENSG00000196628:ENST00000543082:exon9:c.T794A:p.M265K;ENSG00000196628:ENST00000570287:exon4:c.T440A:p.M147K;ENSG00000196628:ENST00000544241:exon7:c.T707A:p.M236K;ENSG00000196628:ENST00000537578:exon10:c.T848A:p.M283K;ENSG00000196628:ENST00000564403:exon11:c.T938A:p.M313K;ENSG00000196628:ENST00000570177:exon6:c.T530A:p.M177K;ENSG00000196628:ENST00000457482:exon4:c.T440A:p.M147K;ENSG00000196628:ENST00000568673:exon10:c.T848A:p.M283K;ENSG00000196628:ENST00000540999:exon10:c.T848A:p.M283K;ENSG00000196628:ENST00000537856:exon6:c.T530A:p.M177K;ENSG00000196628:ENST00000398339:exon12:c.T1226A:p.M409K;ENSG00000196628:ENST00000564228:exon7:c.T707A:p.M236K;ENSG00000196628:ENST00000567880:exon8:c.T740A:p.M247K;	0.634027991670218	0.56
18	52937193	C	A	18	55269962	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G311T:p.S104I;TCF4:NM_001243235:exon4:c.G311T:p.S104I;TCF4:NM_001243231:exon9:c.G665T:p.S222I;TCF4:NM_003199:exon11:c.G791T:p.S264I;TCF4:NM_001243230:exon10:c.G785T:p.S262I;TCF4:NM_001243232:exon7:c.G578T:p.S193I;TCF4:NM_001083962:exon11:c.G791T:p.S264I;TCF4:NM_001243227:exon10:c.G719T:p.S240I;TCF4:NM_001243234:exon4:c.G311T:p.S104I;TCF4:NM_001243226:exon12:c.G1097T:p.S366I;TCF4:NM_001243228:exon11:c.G809T:p.S270I;TCF4:NM_001243233:exon7:c.G401T:p.S134I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G611T:p.S204I;ENSG00000196628:ENST00000568169:exon10:c.G803T:p.S268I;ENSG00000196628:ENST00000561831:exon4:c.G311T:p.S104I;ENSG00000196628:ENST00000564999:exon11:c.G791T:p.S264I;ENSG00000196628:ENST00000568740:exon10:c.G716T:p.S239I;ENSG00000196628:ENST00000561992:exon7:c.G401T:p.S134I;ENSG00000196628:ENST00000565018:exon11:c.G791T:p.S264I;ENSG00000196628:ENST00000354452:exon11:c.G791T:p.S264I;ENSG00000196628:ENST00000566286:exon10:c.G785T:p.S262I;ENSG00000196628:ENST00000566514:exon10:c.G719T:p.S240I;ENSG00000196628:ENST00000356073:exon11:c.G791T:p.S264I;ENSG00000196628:ENST00000543082:exon9:c.G665T:p.S222I;ENSG00000196628:ENST00000570287:exon4:c.G311T:p.S104I;ENSG00000196628:ENST00000544241:exon7:c.G578T:p.S193I;ENSG00000196628:ENST00000537578:exon10:c.G719T:p.S240I;ENSG00000196628:ENST00000564403:exon11:c.G809T:p.S270I;ENSG00000196628:ENST00000570177:exon6:c.G401T:p.S134I;ENSG00000196628:ENST00000457482:exon4:c.G311T:p.S104I;ENSG00000196628:ENST00000569012:exon6:c.G401T:p.S134I;ENSG00000196628:ENST00000568673:exon10:c.G719T:p.S240I;ENSG00000196628:ENST00000540999:exon10:c.G719T:p.S240I;ENSG00000196628:ENST00000537856:exon6:c.G401T:p.S134I;ENSG00000196628:ENST00000398339:exon12:c.G1097T:p.S366I;ENSG00000196628:ENST00000564228:exon7:c.G578T:p.S193I;ENSG00000196628:ENST00000567880:exon8:c.G611T:p.S204I;	0.614605255447679	0.614
18	52937193	C	G	18	55269962	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G311C:p.S104T;TCF4:NM_001243235:exon4:c.G311C:p.S104T;TCF4:NM_001243231:exon9:c.G665C:p.S222T;TCF4:NM_003199:exon11:c.G791C:p.S264T;TCF4:NM_001243230:exon10:c.G785C:p.S262T;TCF4:NM_001243232:exon7:c.G578C:p.S193T;TCF4:NM_001083962:exon11:c.G791C:p.S264T;TCF4:NM_001243227:exon10:c.G719C:p.S240T;TCF4:NM_001243234:exon4:c.G311C:p.S104T;TCF4:NM_001243226:exon12:c.G1097C:p.S366T;TCF4:NM_001243228:exon11:c.G809C:p.S270T;TCF4:NM_001243233:exon7:c.G401C:p.S134T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G611C:p.S204T;ENSG00000196628:ENST00000568169:exon10:c.G803C:p.S268T;ENSG00000196628:ENST00000561831:exon4:c.G311C:p.S104T;ENSG00000196628:ENST00000564999:exon11:c.G791C:p.S264T;ENSG00000196628:ENST00000568740:exon10:c.G716C:p.S239T;ENSG00000196628:ENST00000561992:exon7:c.G401C:p.S134T;ENSG00000196628:ENST00000565018:exon11:c.G791C:p.S264T;ENSG00000196628:ENST00000354452:exon11:c.G791C:p.S264T;ENSG00000196628:ENST00000566286:exon10:c.G785C:p.S262T;ENSG00000196628:ENST00000566514:exon10:c.G719C:p.S240T;ENSG00000196628:ENST00000356073:exon11:c.G791C:p.S264T;ENSG00000196628:ENST00000543082:exon9:c.G665C:p.S222T;ENSG00000196628:ENST00000570287:exon4:c.G311C:p.S104T;ENSG00000196628:ENST00000544241:exon7:c.G578C:p.S193T;ENSG00000196628:ENST00000537578:exon10:c.G719C:p.S240T;ENSG00000196628:ENST00000564403:exon11:c.G809C:p.S270T;ENSG00000196628:ENST00000570177:exon6:c.G401C:p.S134T;ENSG00000196628:ENST00000457482:exon4:c.G311C:p.S104T;ENSG00000196628:ENST00000569012:exon6:c.G401C:p.S134T;ENSG00000196628:ENST00000568673:exon10:c.G719C:p.S240T;ENSG00000196628:ENST00000540999:exon10:c.G719C:p.S240T;ENSG00000196628:ENST00000537856:exon6:c.G401C:p.S134T;ENSG00000196628:ENST00000398339:exon12:c.G1097C:p.S366T;ENSG00000196628:ENST00000564228:exon7:c.G578C:p.S193T;ENSG00000196628:ENST00000567880:exon8:c.G611C:p.S204T;	0.367593548151286	0.588
18	52937193	C	T	18	55269962	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.G311A:p.S104N;TCF4:NM_001243235:exon4:c.G311A:p.S104N;TCF4:NM_001243231:exon9:c.G665A:p.S222N;TCF4:NM_003199:exon11:c.G791A:p.S264N;TCF4:NM_001243230:exon10:c.G785A:p.S262N;TCF4:NM_001243232:exon7:c.G578A:p.S193N;TCF4:NM_001083962:exon11:c.G791A:p.S264N;TCF4:NM_001243227:exon10:c.G719A:p.S240N;TCF4:NM_001243234:exon4:c.G311A:p.S104N;TCF4:NM_001243226:exon12:c.G1097A:p.S366N;TCF4:NM_001243228:exon11:c.G809A:p.S270N;TCF4:NM_001243233:exon7:c.G401A:p.S134N;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.G611A:p.S204N;ENSG00000196628:ENST00000568169:exon10:c.G803A:p.S268N;ENSG00000196628:ENST00000561831:exon4:c.G311A:p.S104N;ENSG00000196628:ENST00000564999:exon11:c.G791A:p.S264N;ENSG00000196628:ENST00000568740:exon10:c.G716A:p.S239N;ENSG00000196628:ENST00000561992:exon7:c.G401A:p.S134N;ENSG00000196628:ENST00000565018:exon11:c.G791A:p.S264N;ENSG00000196628:ENST00000354452:exon11:c.G791A:p.S264N;ENSG00000196628:ENST00000566286:exon10:c.G785A:p.S262N;ENSG00000196628:ENST00000566514:exon10:c.G719A:p.S240N;ENSG00000196628:ENST00000356073:exon11:c.G791A:p.S264N;ENSG00000196628:ENST00000543082:exon9:c.G665A:p.S222N;ENSG00000196628:ENST00000570287:exon4:c.G311A:p.S104N;ENSG00000196628:ENST00000544241:exon7:c.G578A:p.S193N;ENSG00000196628:ENST00000537578:exon10:c.G719A:p.S240N;ENSG00000196628:ENST00000564403:exon11:c.G809A:p.S270N;ENSG00000196628:ENST00000570177:exon6:c.G401A:p.S134N;ENSG00000196628:ENST00000457482:exon4:c.G311A:p.S104N;ENSG00000196628:ENST00000569012:exon6:c.G401A:p.S134N;ENSG00000196628:ENST00000568673:exon10:c.G719A:p.S240N;ENSG00000196628:ENST00000540999:exon10:c.G719A:p.S240N;ENSG00000196628:ENST00000537856:exon6:c.G401A:p.S134N;ENSG00000196628:ENST00000398339:exon12:c.G1097A:p.S366N;ENSG00000196628:ENST00000564228:exon7:c.G578A:p.S193N;ENSG00000196628:ENST00000567880:exon8:c.G611A:p.S204N;	9.79678790611968E-4	0.04
18	52937194	T	A	18	55269963	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.A310T:p.S104C;TCF4:NM_001243235:exon4:c.A310T:p.S104C;TCF4:NM_001243231:exon9:c.A664T:p.S222C;TCF4:NM_003199:exon11:c.A790T:p.S264C;TCF4:NM_001243230:exon10:c.A784T:p.S262C;TCF4:NM_001243232:exon7:c.A577T:p.S193C;TCF4:NM_001083962:exon11:c.A790T:p.S264C;TCF4:NM_001243227:exon10:c.A718T:p.S240C;TCF4:NM_001243234:exon4:c.A310T:p.S104C;TCF4:NM_001243226:exon12:c.A1096T:p.S366C;TCF4:NM_001243228:exon11:c.A808T:p.S270C;TCF4:NM_001243233:exon7:c.A400T:p.S134C;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.A610T:p.S204C;ENSG00000196628:ENST00000568169:exon10:c.A802T:p.S268C;ENSG00000196628:ENST00000561831:exon4:c.A310T:p.S104C;ENSG00000196628:ENST00000564999:exon11:c.A790T:p.S264C;ENSG00000196628:ENST00000568740:exon10:c.A715T:p.S239C;ENSG00000196628:ENST00000561992:exon7:c.A400T:p.S134C;ENSG00000196628:ENST00000565018:exon11:c.A790T:p.S264C;ENSG00000196628:ENST00000354452:exon11:c.A790T:p.S264C;ENSG00000196628:ENST00000566286:exon10:c.A784T:p.S262C;ENSG00000196628:ENST00000566514:exon10:c.A718T:p.S240C;ENSG00000196628:ENST00000356073:exon11:c.A790T:p.S264C;ENSG00000196628:ENST00000543082:exon9:c.A664T:p.S222C;ENSG00000196628:ENST00000570287:exon4:c.A310T:p.S104C;ENSG00000196628:ENST00000544241:exon7:c.A577T:p.S193C;ENSG00000196628:ENST00000537578:exon10:c.A718T:p.S240C;ENSG00000196628:ENST00000564403:exon11:c.A808T:p.S270C;ENSG00000196628:ENST00000570177:exon6:c.A400T:p.S134C;ENSG00000196628:ENST00000457482:exon4:c.A310T:p.S104C;ENSG00000196628:ENST00000569012:exon6:c.A400T:p.S134C;ENSG00000196628:ENST00000568673:exon10:c.A718T:p.S240C;ENSG00000196628:ENST00000540999:exon10:c.A718T:p.S240C;ENSG00000196628:ENST00000537856:exon6:c.A400T:p.S134C;ENSG00000196628:ENST00000398339:exon12:c.A1096T:p.S366C;ENSG00000196628:ENST00000564228:exon7:c.A577T:p.S193C;ENSG00000196628:ENST00000567880:exon8:c.A610T:p.S204C;	0.022454695641028	0.174
18	52937194	T	C	18	55269963	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.A310G:p.S104G;TCF4:NM_001243235:exon4:c.A310G:p.S104G;TCF4:NM_001243231:exon9:c.A664G:p.S222G;TCF4:NM_003199:exon11:c.A790G:p.S264G;TCF4:NM_001243230:exon10:c.A784G:p.S262G;TCF4:NM_001243232:exon7:c.A577G:p.S193G;TCF4:NM_001083962:exon11:c.A790G:p.S264G;TCF4:NM_001243227:exon10:c.A718G:p.S240G;TCF4:NM_001243234:exon4:c.A310G:p.S104G;TCF4:NM_001243226:exon12:c.A1096G:p.S366G;TCF4:NM_001243228:exon11:c.A808G:p.S270G;TCF4:NM_001243233:exon7:c.A400G:p.S134G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.A610G:p.S204G;ENSG00000196628:ENST00000568169:exon10:c.A802G:p.S268G;ENSG00000196628:ENST00000561831:exon4:c.A310G:p.S104G;ENSG00000196628:ENST00000564999:exon11:c.A790G:p.S264G;ENSG00000196628:ENST00000568740:exon10:c.A715G:p.S239G;ENSG00000196628:ENST00000561992:exon7:c.A400G:p.S134G;ENSG00000196628:ENST00000565018:exon11:c.A790G:p.S264G;ENSG00000196628:ENST00000354452:exon11:c.A790G:p.S264G;ENSG00000196628:ENST00000566286:exon10:c.A784G:p.S262G;ENSG00000196628:ENST00000566514:exon10:c.A718G:p.S240G;ENSG00000196628:ENST00000356073:exon11:c.A790G:p.S264G;ENSG00000196628:ENST00000543082:exon9:c.A664G:p.S222G;ENSG00000196628:ENST00000570287:exon4:c.A310G:p.S104G;ENSG00000196628:ENST00000544241:exon7:c.A577G:p.S193G;ENSG00000196628:ENST00000537578:exon10:c.A718G:p.S240G;ENSG00000196628:ENST00000564403:exon11:c.A808G:p.S270G;ENSG00000196628:ENST00000570177:exon6:c.A400G:p.S134G;ENSG00000196628:ENST00000457482:exon4:c.A310G:p.S104G;ENSG00000196628:ENST00000569012:exon6:c.A400G:p.S134G;ENSG00000196628:ENST00000568673:exon10:c.A718G:p.S240G;ENSG00000196628:ENST00000540999:exon10:c.A718G:p.S240G;ENSG00000196628:ENST00000537856:exon6:c.A400G:p.S134G;ENSG00000196628:ENST00000398339:exon12:c.A1096G:p.S366G;ENSG00000196628:ENST00000564228:exon7:c.A577G:p.S193G;ENSG00000196628:ENST00000567880:exon8:c.A610G:p.S204G;	5.94326741464915E-4	0.0
18	52937194	T	G	18	55269963	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon4:c.A310C:p.S104R;TCF4:NM_001243235:exon4:c.A310C:p.S104R;TCF4:NM_001243231:exon9:c.A664C:p.S222R;TCF4:NM_003199:exon11:c.A790C:p.S264R;TCF4:NM_001243230:exon10:c.A784C:p.S262R;TCF4:NM_001243232:exon7:c.A577C:p.S193R;TCF4:NM_001083962:exon11:c.A790C:p.S264R;TCF4:NM_001243227:exon10:c.A718C:p.S240R;TCF4:NM_001243234:exon4:c.A310C:p.S104R;TCF4:NM_001243226:exon12:c.A1096C:p.S366R;TCF4:NM_001243228:exon11:c.A808C:p.S270R;TCF4:NM_001243233:exon7:c.A400C:p.S134R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon9:c.A610C:p.S204R;ENSG00000196628:ENST00000568169:exon10:c.A802C:p.S268R;ENSG00000196628:ENST00000561831:exon4:c.A310C:p.S104R;ENSG00000196628:ENST00000564999:exon11:c.A790C:p.S264R;ENSG00000196628:ENST00000568740:exon10:c.A715C:p.S239R;ENSG00000196628:ENST00000561992:exon7:c.A400C:p.S134R;ENSG00000196628:ENST00000565018:exon11:c.A790C:p.S264R;ENSG00000196628:ENST00000354452:exon11:c.A790C:p.S264R;ENSG00000196628:ENST00000566286:exon10:c.A784C:p.S262R;ENSG00000196628:ENST00000566514:exon10:c.A718C:p.S240R;ENSG00000196628:ENST00000356073:exon11:c.A790C:p.S264R;ENSG00000196628:ENST00000543082:exon9:c.A664C:p.S222R;ENSG00000196628:ENST00000570287:exon4:c.A310C:p.S104R;ENSG00000196628:ENST00000544241:exon7:c.A577C:p.S193R;ENSG00000196628:ENST00000537578:exon10:c.A718C:p.S240R;ENSG00000196628:ENST00000564403:exon11:c.A808C:p.S270R;ENSG00000196628:ENST00000570177:exon6:c.A400C:p.S134R;ENSG00000196628:ENST00000457482:exon4:c.A310C:p.S104R;ENSG00000196628:ENST00000569012:exon6:c.A400C:p.S134R;ENSG00000196628:ENST00000568673:exon10:c.A718C:p.S240R;ENSG00000196628:ENST00000540999:exon10:c.A718C:p.S240R;ENSG00000196628:ENST00000537856:exon6:c.A400C:p.S134R;ENSG00000196628:ENST00000398339:exon12:c.A1096C:p.S366R;ENSG00000196628:ENST00000564228:exon7:c.A577C:p.S193R;ENSG00000196628:ENST00000567880:exon8:c.A610C:p.S204R;	0.0114770665567462	0.222
18	52937195	C	A	18	55269964	y	y	splicing	TCF4(NM_001243226:exon13:c.1096-1G>T;NM_001243230:exon11:c.784-1G>T;NM_001243234:exon5:c.310-1G>T;NM_001243232:exon8:c.577-1G>T;NM_001243236:exon5:c.310-1G>T;NM_001083962:exon12:c.790-1G>T;NM_003199:exon12:c.790-1G>T;NM_001243235:exon5:c.310-1G>T;NM_001243233:exon8:c.400-1G>T;NM_001243231:exon10:c.664-1G>T;NM_001243228:exon12:c.808-1G>T;NM_001243227:exon11:c.718-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.790-1G>T;ENST00000356073:exon12:c.790-1G>T;ENST00000568673:exon11:c.718-1G>T;ENST00000543082:exon10:c.664-1G>T;ENST00000457482:exon5:c.310-1G>T;ENST00000540999:exon11:c.718-1G>T;ENST00000537578:exon11:c.718-1G>T;ENST00000564999:exon12:c.790-1G>T;ENST00000568740:exon11:c.715-1G>T;ENST00000537856:exon7:c.400-1G>T;ENST00000544241:exon8:c.577-1G>T;ENST00000561992:exon8:c.400-1G>T;ENST00000561831:exon5:c.310-1G>T;ENST00000565018:exon12:c.790-1G>T;ENST00000566279:exon10:c.610-1G>T;ENST00000566286:exon11:c.784-1G>T;ENST00000567880:exon9:c.610-1G>T;ENST00000564228:exon8:c.577-1G>T;ENST00000570287:exon5:c.310-1G>T;ENST00000398339:exon13:c.1096-1G>T;ENST00000564403:exon12:c.808-1G>T;ENST00000570177:exon7:c.400-1G>T;ENST00000570146:exon3:c.54-1G>T;ENST00000569012:exon7:c.400-1G>T;ENST00000566514:exon11:c.718-1G>T;ENST00000568169:exon11:c.802-1G>T)	.	.	0.999989072007339	0.934
18	52937195	C	G	18	55269964	y	y	splicing	TCF4(NM_001243226:exon13:c.1096-1G>C;NM_001243230:exon11:c.784-1G>C;NM_001243234:exon5:c.310-1G>C;NM_001243232:exon8:c.577-1G>C;NM_001243236:exon5:c.310-1G>C;NM_001083962:exon12:c.790-1G>C;NM_003199:exon12:c.790-1G>C;NM_001243235:exon5:c.310-1G>C;NM_001243233:exon8:c.400-1G>C;NM_001243231:exon10:c.664-1G>C;NM_001243228:exon12:c.808-1G>C;NM_001243227:exon11:c.718-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.790-1G>C;ENST00000356073:exon12:c.790-1G>C;ENST00000568673:exon11:c.718-1G>C;ENST00000543082:exon10:c.664-1G>C;ENST00000457482:exon5:c.310-1G>C;ENST00000540999:exon11:c.718-1G>C;ENST00000537578:exon11:c.718-1G>C;ENST00000564999:exon12:c.790-1G>C;ENST00000568740:exon11:c.715-1G>C;ENST00000537856:exon7:c.400-1G>C;ENST00000544241:exon8:c.577-1G>C;ENST00000561992:exon8:c.400-1G>C;ENST00000561831:exon5:c.310-1G>C;ENST00000565018:exon12:c.790-1G>C;ENST00000566279:exon10:c.610-1G>C;ENST00000566286:exon11:c.784-1G>C;ENST00000567880:exon9:c.610-1G>C;ENST00000564228:exon8:c.577-1G>C;ENST00000570287:exon5:c.310-1G>C;ENST00000398339:exon13:c.1096-1G>C;ENST00000564403:exon12:c.808-1G>C;ENST00000570177:exon7:c.400-1G>C;ENST00000570146:exon3:c.54-1G>C;ENST00000569012:exon7:c.400-1G>C;ENST00000566514:exon11:c.718-1G>C;ENST00000568169:exon11:c.802-1G>C)	.	.	0.999989072007339	0.934
18	52937195	C	T	18	55269964	y	y	splicing	TCF4(NM_001243226:exon13:c.1096-1G>A;NM_001243230:exon11:c.784-1G>A;NM_001243234:exon5:c.310-1G>A;NM_001243232:exon8:c.577-1G>A;NM_001243236:exon5:c.310-1G>A;NM_001083962:exon12:c.790-1G>A;NM_003199:exon12:c.790-1G>A;NM_001243235:exon5:c.310-1G>A;NM_001243233:exon8:c.400-1G>A;NM_001243231:exon10:c.664-1G>A;NM_001243228:exon12:c.808-1G>A;NM_001243227:exon11:c.718-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.790-1G>A;ENST00000356073:exon12:c.790-1G>A;ENST00000568673:exon11:c.718-1G>A;ENST00000543082:exon10:c.664-1G>A;ENST00000457482:exon5:c.310-1G>A;ENST00000540999:exon11:c.718-1G>A;ENST00000537578:exon11:c.718-1G>A;ENST00000564999:exon12:c.790-1G>A;ENST00000568740:exon11:c.715-1G>A;ENST00000537856:exon7:c.400-1G>A;ENST00000544241:exon8:c.577-1G>A;ENST00000561992:exon8:c.400-1G>A;ENST00000561831:exon5:c.310-1G>A;ENST00000565018:exon12:c.790-1G>A;ENST00000566279:exon10:c.610-1G>A;ENST00000566286:exon11:c.784-1G>A;ENST00000567880:exon9:c.610-1G>A;ENST00000564228:exon8:c.577-1G>A;ENST00000570287:exon5:c.310-1G>A;ENST00000398339:exon13:c.1096-1G>A;ENST00000564403:exon12:c.808-1G>A;ENST00000570177:exon7:c.400-1G>A;ENST00000570146:exon3:c.54-1G>A;ENST00000569012:exon7:c.400-1G>A;ENST00000566514:exon11:c.718-1G>A;ENST00000568169:exon11:c.802-1G>A)	.	.	0.999989072007339	0.934
18	52937196	T	A	18	55269965	y	y	splicing	TCF4(NM_001243226:exon13:c.1096-2A>T;NM_001243230:exon11:c.784-2A>T;NM_001243234:exon5:c.310-2A>T;NM_001243232:exon8:c.577-2A>T;NM_001243236:exon5:c.310-2A>T;NM_001083962:exon12:c.790-2A>T;NM_003199:exon12:c.790-2A>T;NM_001243235:exon5:c.310-2A>T;NM_001243233:exon8:c.400-2A>T;NM_001243231:exon10:c.664-2A>T;NM_001243228:exon12:c.808-2A>T;NM_001243227:exon11:c.718-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.790-2A>T;ENST00000356073:exon12:c.790-2A>T;ENST00000568673:exon11:c.718-2A>T;ENST00000543082:exon10:c.664-2A>T;ENST00000457482:exon5:c.310-2A>T;ENST00000540999:exon11:c.718-2A>T;ENST00000537578:exon11:c.718-2A>T;ENST00000564999:exon12:c.790-2A>T;ENST00000568740:exon11:c.715-2A>T;ENST00000537856:exon7:c.400-2A>T;ENST00000544241:exon8:c.577-2A>T;ENST00000561992:exon8:c.400-2A>T;ENST00000561831:exon5:c.310-2A>T;ENST00000565018:exon12:c.790-2A>T;ENST00000566279:exon10:c.610-2A>T;ENST00000566286:exon11:c.784-2A>T;ENST00000567880:exon9:c.610-2A>T;ENST00000564228:exon8:c.577-2A>T;ENST00000570287:exon5:c.310-2A>T;ENST00000398339:exon13:c.1096-2A>T;ENST00000564403:exon12:c.808-2A>T;ENST00000570177:exon7:c.400-2A>T;ENST00000570146:exon3:c.54-2A>T;ENST00000569012:exon7:c.400-2A>T;ENST00000566514:exon11:c.718-2A>T;ENST00000568169:exon11:c.802-2A>T)	.	.	0.999981808176352	0.914
18	52937196	T	C	18	55269965	y	y	splicing	TCF4(NM_001243226:exon13:c.1096-2A>G;NM_001243230:exon11:c.784-2A>G;NM_001243234:exon5:c.310-2A>G;NM_001243232:exon8:c.577-2A>G;NM_001243236:exon5:c.310-2A>G;NM_001083962:exon12:c.790-2A>G;NM_003199:exon12:c.790-2A>G;NM_001243235:exon5:c.310-2A>G;NM_001243233:exon8:c.400-2A>G;NM_001243231:exon10:c.664-2A>G;NM_001243228:exon12:c.808-2A>G;NM_001243227:exon11:c.718-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.790-2A>G;ENST00000356073:exon12:c.790-2A>G;ENST00000568673:exon11:c.718-2A>G;ENST00000543082:exon10:c.664-2A>G;ENST00000457482:exon5:c.310-2A>G;ENST00000540999:exon11:c.718-2A>G;ENST00000537578:exon11:c.718-2A>G;ENST00000564999:exon12:c.790-2A>G;ENST00000568740:exon11:c.715-2A>G;ENST00000537856:exon7:c.400-2A>G;ENST00000544241:exon8:c.577-2A>G;ENST00000561992:exon8:c.400-2A>G;ENST00000561831:exon5:c.310-2A>G;ENST00000565018:exon12:c.790-2A>G;ENST00000566279:exon10:c.610-2A>G;ENST00000566286:exon11:c.784-2A>G;ENST00000567880:exon9:c.610-2A>G;ENST00000564228:exon8:c.577-2A>G;ENST00000570287:exon5:c.310-2A>G;ENST00000398339:exon13:c.1096-2A>G;ENST00000564403:exon12:c.808-2A>G;ENST00000570177:exon7:c.400-2A>G;ENST00000570146:exon3:c.54-2A>G;ENST00000569012:exon7:c.400-2A>G;ENST00000566514:exon11:c.718-2A>G;ENST00000568169:exon11:c.802-2A>G)	.	.	0.999981808176352	0.912
18	52937196	T	G	18	55269965	y	y	splicing	TCF4(NM_001243226:exon13:c.1096-2A>C;NM_001243230:exon11:c.784-2A>C;NM_001243234:exon5:c.310-2A>C;NM_001243232:exon8:c.577-2A>C;NM_001243236:exon5:c.310-2A>C;NM_001083962:exon12:c.790-2A>C;NM_003199:exon12:c.790-2A>C;NM_001243235:exon5:c.310-2A>C;NM_001243233:exon8:c.400-2A>C;NM_001243231:exon10:c.664-2A>C;NM_001243228:exon12:c.808-2A>C;NM_001243227:exon11:c.718-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon12:c.790-2A>C;ENST00000356073:exon12:c.790-2A>C;ENST00000568673:exon11:c.718-2A>C;ENST00000543082:exon10:c.664-2A>C;ENST00000457482:exon5:c.310-2A>C;ENST00000540999:exon11:c.718-2A>C;ENST00000537578:exon11:c.718-2A>C;ENST00000564999:exon12:c.790-2A>C;ENST00000568740:exon11:c.715-2A>C;ENST00000537856:exon7:c.400-2A>C;ENST00000544241:exon8:c.577-2A>C;ENST00000561992:exon8:c.400-2A>C;ENST00000561831:exon5:c.310-2A>C;ENST00000565018:exon12:c.790-2A>C;ENST00000566279:exon10:c.610-2A>C;ENST00000566286:exon11:c.784-2A>C;ENST00000567880:exon9:c.610-2A>C;ENST00000564228:exon8:c.577-2A>C;ENST00000570287:exon5:c.310-2A>C;ENST00000398339:exon13:c.1096-2A>C;ENST00000564403:exon12:c.808-2A>C;ENST00000570177:exon7:c.400-2A>C;ENST00000570146:exon3:c.54-2A>C;ENST00000569012:exon7:c.400-2A>C;ENST00000566514:exon11:c.718-2A>C;ENST00000568169:exon11:c.802-2A>C)	.	.	0.999981808176352	0.912
18	52937197	A	C	18	55269966	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.991787148330403	0.722
18	52937197	A	G	18	55269966	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.81753081123479E-5	0.008
18	52937197	A	T	18	55269966	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.110544652715312	0.378
18	52937198	T	A	18	55269967	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.68925066703878E-5	0.034
18	52937198	T	C	18	55269967	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.63812101353581E-4	0.052
18	52937198	T	G	18	55269967	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.47501719888527E-5	0.016
18	52937199	A	C	18	55269968	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.174454083330898	0.578
18	52937199	A	G	18	55269968	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.23200931377208E-4	0.048
18	52937199	A	T	18	55269968	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.485907394017288	0.59
18	52937200	G	A	18	55269969	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.35111446514365E-4	0.032
18	52937200	G	C	18	55269969	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0416353458999508	0.164
18	52937200	G	T	18	55269969	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00648262253176302	0.136
18	52937201	C	A	18	55269970	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.94453041343607E-5	0.0
18	52937201	C	G	18	55269970	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.53138238886211E-5	0.0
18	52937201	C	T	18	55269970	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.86355220333207E-5	0.028
18	52937202	A	C	18	55269971	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.27754755600549	0.306
18	52937202	A	G	18	55269971	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.73786418592742E-5	0.044
18	52937202	A	T	18	55269971	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999677229746048	0.98
18	52937203	A	C	18	55269972	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.479334053745286	0.414
18	52937203	A	G	18	55269972	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.21537400124307E-5	0.086
18	52937203	A	T	18	55269972	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.572381654012904	0.4
18	52937204	G	A	18	55269973	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0241454335643826	0.13
18	52937204	G	C	18	55269973	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.026277922557286	0.1
18	52937204	G	T	18	55269973	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0252776442031936	0.208
18	52937205	A	C	18	55269974	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.940010393782492	0.698
18	52937205	A	G	18	55269974	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.249829384143843	0.314
18	52937205	A	T	18	55269974	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.994327937731147	0.878
18	52937206	A	C	18	55269975	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.196847577957471	0.376
18	52937206	A	G	18	55269975	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.1370144454721E-5	0.042
18	52937206	A	T	18	55269975	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.309911007950941	0.4
18	52942842	T	A	18	55275611	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.06204400305209E-4	0.004
18	52942842	T	C	18	55275611	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.17014716175703E-4	0.034
18	52942842	T	G	18	55275611	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.17014716175703E-4	0.014
18	52942843	G	A	18	55275612	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.1233017668366E-4	0.002
18	52942843	G	C	18	55275612	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.14323901626791E-4	0.014
18	52942843	G	T	18	55275612	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.90604663467127E-4	0.012
18	52942844	C	A	18	55275613	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.11226053051288E-4	0.036
18	52942844	C	G	18	55275613	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.19151268613154E-4	0.088
18	52942844	C	T	18	55275613	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.8094154605896E-4	0.034
18	52942845	C	A	18	55275614	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999922146232505	0.972
18	52942845	C	G	18	55275614	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999930849007574	0.962
18	52942845	C	T	18	55275614	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999921568121553	0.976
18	52942846	T	A	18	55275615	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999210337329442	0.94
18	52942846	T	C	18	55275615	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999302704839842	0.918
18	52942846	T	G	18	55275615	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999264153514786	0.946
18	52942847	T	A	18	55275616	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999659333504073	0.966
18	52942847	T	C	18	55275616	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.992783164530661	0.734
18	52942847	T	G	18	55275616	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999846848046256	0.952
18	52942848	A	C	18	55275617	y	y	splicing	TCF4(NM_001243226:exon12:c.1095+2T>G;NM_001243230:exon10:c.783+2T>G;NM_001243234:exon4:c.309+2T>G;NM_001243232:exon7:c.576+2T>G;NM_001243236:exon4:c.309+2T>G;NM_001083962:exon11:c.789+2T>G;NM_003199:exon11:c.789+2T>G;NM_001243235:exon4:c.309+2T>G;NM_001243233:exon7:c.399+2T>G;NM_001243231:exon9:c.663+2T>G;NM_001243228:exon11:c.807+2T>G;NM_001243227:exon10:c.717+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.789+2T>G;ENST00000356073:exon11:c.789+2T>G;ENST00000568673:exon10:c.717+2T>G;ENST00000543082:exon9:c.663+2T>G;ENST00000457482:exon4:c.309+2T>G;ENST00000540999:exon10:c.717+2T>G;ENST00000537578:exon10:c.717+2T>G;ENST00000564999:exon11:c.789+2T>G;ENST00000568740:exon10:c.714+2T>G;ENST00000537856:exon6:c.399+2T>G;ENST00000544241:exon7:c.576+2T>G;ENST00000561992:exon7:c.399+2T>G;ENST00000561831:exon4:c.309+2T>G;ENST00000565018:exon11:c.789+2T>G;ENST00000566279:exon9:c.609+2T>G;ENST00000566286:exon10:c.783+2T>G;ENST00000567880:exon8:c.609+2T>G;ENST00000564228:exon7:c.576+2T>G;ENST00000570287:exon4:c.309+2T>G;ENST00000398339:exon12:c.1095+2T>G;ENST00000564403:exon11:c.807+2T>G;ENST00000570177:exon6:c.399+2T>G;ENST00000570146:exon2:c.53+2T>G;ENST00000569012:exon6:c.399+2T>G;ENST00000566514:exon10:c.717+2T>G;ENST00000568169:exon10:c.801+2T>G)	.	.	0.999988247793601	0.93
18	52942848	A	G	18	55275617	y	y	splicing	TCF4(NM_001243226:exon12:c.1095+2T>C;NM_001243230:exon10:c.783+2T>C;NM_001243234:exon4:c.309+2T>C;NM_001243232:exon7:c.576+2T>C;NM_001243236:exon4:c.309+2T>C;NM_001083962:exon11:c.789+2T>C;NM_003199:exon11:c.789+2T>C;NM_001243235:exon4:c.309+2T>C;NM_001243233:exon7:c.399+2T>C;NM_001243231:exon9:c.663+2T>C;NM_001243228:exon11:c.807+2T>C;NM_001243227:exon10:c.717+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.789+2T>C;ENST00000356073:exon11:c.789+2T>C;ENST00000568673:exon10:c.717+2T>C;ENST00000543082:exon9:c.663+2T>C;ENST00000457482:exon4:c.309+2T>C;ENST00000540999:exon10:c.717+2T>C;ENST00000537578:exon10:c.717+2T>C;ENST00000564999:exon11:c.789+2T>C;ENST00000568740:exon10:c.714+2T>C;ENST00000537856:exon6:c.399+2T>C;ENST00000544241:exon7:c.576+2T>C;ENST00000561992:exon7:c.399+2T>C;ENST00000561831:exon4:c.309+2T>C;ENST00000565018:exon11:c.789+2T>C;ENST00000566279:exon9:c.609+2T>C;ENST00000566286:exon10:c.783+2T>C;ENST00000567880:exon8:c.609+2T>C;ENST00000564228:exon7:c.576+2T>C;ENST00000570287:exon4:c.309+2T>C;ENST00000398339:exon12:c.1095+2T>C;ENST00000564403:exon11:c.807+2T>C;ENST00000570177:exon6:c.399+2T>C;ENST00000570146:exon2:c.53+2T>C;ENST00000569012:exon6:c.399+2T>C;ENST00000566514:exon10:c.717+2T>C;ENST00000568169:exon10:c.801+2T>C)	.	.	0.99991522016916	0.886
18	52942848	A	T	18	55275617	y	y	splicing	TCF4(NM_001243226:exon12:c.1095+2T>A;NM_001243230:exon10:c.783+2T>A;NM_001243234:exon4:c.309+2T>A;NM_001243232:exon7:c.576+2T>A;NM_001243236:exon4:c.309+2T>A;NM_001083962:exon11:c.789+2T>A;NM_003199:exon11:c.789+2T>A;NM_001243235:exon4:c.309+2T>A;NM_001243233:exon7:c.399+2T>A;NM_001243231:exon9:c.663+2T>A;NM_001243228:exon11:c.807+2T>A;NM_001243227:exon10:c.717+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.789+2T>A;ENST00000356073:exon11:c.789+2T>A;ENST00000568673:exon10:c.717+2T>A;ENST00000543082:exon9:c.663+2T>A;ENST00000457482:exon4:c.309+2T>A;ENST00000540999:exon10:c.717+2T>A;ENST00000537578:exon10:c.717+2T>A;ENST00000564999:exon11:c.789+2T>A;ENST00000568740:exon10:c.714+2T>A;ENST00000537856:exon6:c.399+2T>A;ENST00000544241:exon7:c.576+2T>A;ENST00000561992:exon7:c.399+2T>A;ENST00000561831:exon4:c.309+2T>A;ENST00000565018:exon11:c.789+2T>A;ENST00000566279:exon9:c.609+2T>A;ENST00000566286:exon10:c.783+2T>A;ENST00000567880:exon8:c.609+2T>A;ENST00000564228:exon7:c.576+2T>A;ENST00000570287:exon4:c.309+2T>A;ENST00000398339:exon12:c.1095+2T>A;ENST00000564403:exon11:c.807+2T>A;ENST00000570177:exon6:c.399+2T>A;ENST00000570146:exon2:c.53+2T>A;ENST00000569012:exon6:c.399+2T>A;ENST00000566514:exon10:c.717+2T>A;ENST00000568169:exon10:c.801+2T>A)	.	.	0.999988247793601	0.93
18	52942849	C	A	18	55275618	y	y	splicing	TCF4(NM_001243226:exon12:c.1095+1G>T;NM_001243230:exon10:c.783+1G>T;NM_001243234:exon4:c.309+1G>T;NM_001243232:exon7:c.576+1G>T;NM_001243236:exon4:c.309+1G>T;NM_001083962:exon11:c.789+1G>T;NM_003199:exon11:c.789+1G>T;NM_001243235:exon4:c.309+1G>T;NM_001243233:exon7:c.399+1G>T;NM_001243231:exon9:c.663+1G>T;NM_001243228:exon11:c.807+1G>T;NM_001243227:exon10:c.717+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.789+1G>T;ENST00000356073:exon11:c.789+1G>T;ENST00000568673:exon10:c.717+1G>T;ENST00000543082:exon9:c.663+1G>T;ENST00000457482:exon4:c.309+1G>T;ENST00000540999:exon10:c.717+1G>T;ENST00000537578:exon10:c.717+1G>T;ENST00000564999:exon11:c.789+1G>T;ENST00000568740:exon10:c.714+1G>T;ENST00000537856:exon6:c.399+1G>T;ENST00000544241:exon7:c.576+1G>T;ENST00000561992:exon7:c.399+1G>T;ENST00000561831:exon4:c.309+1G>T;ENST00000565018:exon11:c.789+1G>T;ENST00000566279:exon9:c.609+1G>T;ENST00000566286:exon10:c.783+1G>T;ENST00000567880:exon8:c.609+1G>T;ENST00000564228:exon7:c.576+1G>T;ENST00000570287:exon4:c.309+1G>T;ENST00000398339:exon12:c.1095+1G>T;ENST00000564403:exon11:c.807+1G>T;ENST00000570177:exon6:c.399+1G>T;ENST00000570146:exon2:c.53+1G>T;ENST00000569012:exon6:c.399+1G>T;ENST00000566514:exon10:c.717+1G>T;ENST00000568169:exon10:c.801+1G>T)	.	.	0.999990361384395	0.938
18	52942849	C	G	18	55275618	y	y	splicing	TCF4(NM_001243226:exon12:c.1095+1G>C;NM_001243230:exon10:c.783+1G>C;NM_001243234:exon4:c.309+1G>C;NM_001243232:exon7:c.576+1G>C;NM_001243236:exon4:c.309+1G>C;NM_001083962:exon11:c.789+1G>C;NM_003199:exon11:c.789+1G>C;NM_001243235:exon4:c.309+1G>C;NM_001243233:exon7:c.399+1G>C;NM_001243231:exon9:c.663+1G>C;NM_001243228:exon11:c.807+1G>C;NM_001243227:exon10:c.717+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.789+1G>C;ENST00000356073:exon11:c.789+1G>C;ENST00000568673:exon10:c.717+1G>C;ENST00000543082:exon9:c.663+1G>C;ENST00000457482:exon4:c.309+1G>C;ENST00000540999:exon10:c.717+1G>C;ENST00000537578:exon10:c.717+1G>C;ENST00000564999:exon11:c.789+1G>C;ENST00000568740:exon10:c.714+1G>C;ENST00000537856:exon6:c.399+1G>C;ENST00000544241:exon7:c.576+1G>C;ENST00000561992:exon7:c.399+1G>C;ENST00000561831:exon4:c.309+1G>C;ENST00000565018:exon11:c.789+1G>C;ENST00000566279:exon9:c.609+1G>C;ENST00000566286:exon10:c.783+1G>C;ENST00000567880:exon8:c.609+1G>C;ENST00000564228:exon7:c.576+1G>C;ENST00000570287:exon4:c.309+1G>C;ENST00000398339:exon12:c.1095+1G>C;ENST00000564403:exon11:c.807+1G>C;ENST00000570177:exon6:c.399+1G>C;ENST00000570146:exon2:c.53+1G>C;ENST00000569012:exon6:c.399+1G>C;ENST00000566514:exon10:c.717+1G>C;ENST00000568169:exon10:c.801+1G>C)	.	.	0.999990361384395	0.938
18	52942849	C	T	18	55275618	y	y	splicing	TCF4(NM_001243226:exon12:c.1095+1G>A;NM_001243230:exon10:c.783+1G>A;NM_001243234:exon4:c.309+1G>A;NM_001243232:exon7:c.576+1G>A;NM_001243236:exon4:c.309+1G>A;NM_001083962:exon11:c.789+1G>A;NM_003199:exon11:c.789+1G>A;NM_001243235:exon4:c.309+1G>A;NM_001243233:exon7:c.399+1G>A;NM_001243231:exon9:c.663+1G>A;NM_001243228:exon11:c.807+1G>A;NM_001243227:exon10:c.717+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.789+1G>A;ENST00000356073:exon11:c.789+1G>A;ENST00000568673:exon10:c.717+1G>A;ENST00000543082:exon9:c.663+1G>A;ENST00000457482:exon4:c.309+1G>A;ENST00000540999:exon10:c.717+1G>A;ENST00000537578:exon10:c.717+1G>A;ENST00000564999:exon11:c.789+1G>A;ENST00000568740:exon10:c.714+1G>A;ENST00000537856:exon6:c.399+1G>A;ENST00000544241:exon7:c.576+1G>A;ENST00000561992:exon7:c.399+1G>A;ENST00000561831:exon4:c.309+1G>A;ENST00000565018:exon11:c.789+1G>A;ENST00000566279:exon9:c.609+1G>A;ENST00000566286:exon10:c.783+1G>A;ENST00000567880:exon8:c.609+1G>A;ENST00000564228:exon7:c.576+1G>A;ENST00000570287:exon4:c.309+1G>A;ENST00000398339:exon12:c.1095+1G>A;ENST00000564403:exon11:c.807+1G>A;ENST00000570177:exon6:c.399+1G>A;ENST00000570146:exon2:c.53+1G>A;ENST00000569012:exon6:c.399+1G>A;ENST00000566514:exon10:c.717+1G>A;ENST00000568169:exon10:c.801+1G>A)	.	.	0.999990361384395	0.938
18	52942850	C	A	18	55275619	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.G309T:p.L103F;TCF4:NM_001243235:exon3:c.G309T:p.L103F;TCF4:NM_001243231:exon8:c.G663T:p.L221F;TCF4:NM_003199:exon10:c.G789T:p.L263F;TCF4:NM_001243230:exon9:c.G783T:p.L261F;TCF4:NM_001243232:exon6:c.G576T:p.L192F;TCF4:NM_001083962:exon10:c.G789T:p.L263F;TCF4:NM_001243227:exon9:c.G717T:p.L239F;TCF4:NM_001243234:exon3:c.G309T:p.L103F;TCF4:NM_001243226:exon11:c.G1095T:p.L365F;TCF4:NM_001243228:exon10:c.G807T:p.L269F;TCF4:NM_001243233:exon6:c.G399T:p.L133F;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.G609T:p.L203F;ENSG00000196628:ENST00000568169:exon9:c.G801T:p.L267F;ENSG00000196628:ENST00000561831:exon3:c.G309T:p.L103F;ENSG00000196628:ENST00000564999:exon10:c.G789T:p.L263F;ENSG00000196628:ENST00000568740:exon9:c.G714T:p.L238F;ENSG00000196628:ENST00000561992:exon6:c.G399T:p.L133F;ENSG00000196628:ENST00000565018:exon10:c.G789T:p.L263F;ENSG00000196628:ENST00000354452:exon10:c.G789T:p.L263F;ENSG00000196628:ENST00000566286:exon9:c.G783T:p.L261F;ENSG00000196628:ENST00000566514:exon9:c.G717T:p.L239F;ENSG00000196628:ENST00000356073:exon10:c.G789T:p.L263F;ENSG00000196628:ENST00000543082:exon8:c.G663T:p.L221F;ENSG00000196628:ENST00000570287:exon3:c.G309T:p.L103F;ENSG00000196628:ENST00000544241:exon6:c.G576T:p.L192F;ENSG00000196628:ENST00000537578:exon9:c.G717T:p.L239F;ENSG00000196628:ENST00000564403:exon10:c.G807T:p.L269F;ENSG00000196628:ENST00000570177:exon5:c.G399T:p.L133F;ENSG00000196628:ENST00000457482:exon3:c.G309T:p.L103F;ENSG00000196628:ENST00000569012:exon5:c.G399T:p.L133F;ENSG00000196628:ENST00000568673:exon9:c.G717T:p.L239F;ENSG00000196628:ENST00000540999:exon9:c.G717T:p.L239F;ENSG00000196628:ENST00000537856:exon5:c.G399T:p.L133F;ENSG00000196628:ENST00000398339:exon11:c.G1095T:p.L365F;ENSG00000196628:ENST00000564228:exon6:c.G576T:p.L192F;ENSG00000196628:ENST00000567880:exon7:c.G609T:p.L203F;	0.999994415037265	1.0
18	52942850	C	G	18	55275619	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.G309C:p.L103F;TCF4:NM_001243235:exon3:c.G309C:p.L103F;TCF4:NM_001243231:exon8:c.G663C:p.L221F;TCF4:NM_003199:exon10:c.G789C:p.L263F;TCF4:NM_001243230:exon9:c.G783C:p.L261F;TCF4:NM_001243232:exon6:c.G576C:p.L192F;TCF4:NM_001083962:exon10:c.G789C:p.L263F;TCF4:NM_001243227:exon9:c.G717C:p.L239F;TCF4:NM_001243234:exon3:c.G309C:p.L103F;TCF4:NM_001243226:exon11:c.G1095C:p.L365F;TCF4:NM_001243228:exon10:c.G807C:p.L269F;TCF4:NM_001243233:exon6:c.G399C:p.L133F;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.G609C:p.L203F;ENSG00000196628:ENST00000568169:exon9:c.G801C:p.L267F;ENSG00000196628:ENST00000561831:exon3:c.G309C:p.L103F;ENSG00000196628:ENST00000564999:exon10:c.G789C:p.L263F;ENSG00000196628:ENST00000568740:exon9:c.G714C:p.L238F;ENSG00000196628:ENST00000561992:exon6:c.G399C:p.L133F;ENSG00000196628:ENST00000565018:exon10:c.G789C:p.L263F;ENSG00000196628:ENST00000354452:exon10:c.G789C:p.L263F;ENSG00000196628:ENST00000566286:exon9:c.G783C:p.L261F;ENSG00000196628:ENST00000566514:exon9:c.G717C:p.L239F;ENSG00000196628:ENST00000356073:exon10:c.G789C:p.L263F;ENSG00000196628:ENST00000543082:exon8:c.G663C:p.L221F;ENSG00000196628:ENST00000570287:exon3:c.G309C:p.L103F;ENSG00000196628:ENST00000544241:exon6:c.G576C:p.L192F;ENSG00000196628:ENST00000537578:exon9:c.G717C:p.L239F;ENSG00000196628:ENST00000564403:exon10:c.G807C:p.L269F;ENSG00000196628:ENST00000570177:exon5:c.G399C:p.L133F;ENSG00000196628:ENST00000457482:exon3:c.G309C:p.L103F;ENSG00000196628:ENST00000569012:exon5:c.G399C:p.L133F;ENSG00000196628:ENST00000568673:exon9:c.G717C:p.L239F;ENSG00000196628:ENST00000540999:exon9:c.G717C:p.L239F;ENSG00000196628:ENST00000537856:exon5:c.G399C:p.L133F;ENSG00000196628:ENST00000398339:exon11:c.G1095C:p.L365F;ENSG00000196628:ENST00000564228:exon6:c.G576C:p.L192F;ENSG00000196628:ENST00000567880:exon7:c.G609C:p.L203F;	0.99999721398396	1.0
18	52942850	C	T	18	55275619	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon3:c.G309A:p.L103L;TCF4:NM_001243235:exon3:c.G309A:p.L103L;TCF4:NM_001243231:exon8:c.G663A:p.L221L;TCF4:NM_003199:exon10:c.G789A:p.L263L;TCF4:NM_001243230:exon9:c.G783A:p.L261L;TCF4:NM_001243232:exon6:c.G576A:p.L192L;TCF4:NM_001083962:exon10:c.G789A:p.L263L;TCF4:NM_001243227:exon9:c.G717A:p.L239L;TCF4:NM_001243234:exon3:c.G309A:p.L103L;TCF4:NM_001243226:exon11:c.G1095A:p.L365L;TCF4:NM_001243228:exon10:c.G807A:p.L269L;TCF4:NM_001243233:exon6:c.G399A:p.L133L;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.G609A:p.L203L;ENSG00000196628:ENST00000568169:exon9:c.G801A:p.L267L;ENSG00000196628:ENST00000561831:exon3:c.G309A:p.L103L;ENSG00000196628:ENST00000564999:exon10:c.G789A:p.L263L;ENSG00000196628:ENST00000568740:exon9:c.G714A:p.L238L;ENSG00000196628:ENST00000561992:exon6:c.G399A:p.L133L;ENSG00000196628:ENST00000565018:exon10:c.G789A:p.L263L;ENSG00000196628:ENST00000354452:exon10:c.G789A:p.L263L;ENSG00000196628:ENST00000566286:exon9:c.G783A:p.L261L;ENSG00000196628:ENST00000566514:exon9:c.G717A:p.L239L;ENSG00000196628:ENST00000356073:exon10:c.G789A:p.L263L;ENSG00000196628:ENST00000543082:exon8:c.G663A:p.L221L;ENSG00000196628:ENST00000570287:exon3:c.G309A:p.L103L;ENSG00000196628:ENST00000544241:exon6:c.G576A:p.L192L;ENSG00000196628:ENST00000537578:exon9:c.G717A:p.L239L;ENSG00000196628:ENST00000564403:exon10:c.G807A:p.L269L;ENSG00000196628:ENST00000570177:exon5:c.G399A:p.L133L;ENSG00000196628:ENST00000457482:exon3:c.G309A:p.L103L;ENSG00000196628:ENST00000569012:exon5:c.G399A:p.L133L;ENSG00000196628:ENST00000568673:exon9:c.G717A:p.L239L;ENSG00000196628:ENST00000540999:exon9:c.G717A:p.L239L;ENSG00000196628:ENST00000537856:exon5:c.G399A:p.L133L;ENSG00000196628:ENST00000398339:exon11:c.G1095A:p.L365L;ENSG00000196628:ENST00000564228:exon6:c.G576A:p.L192L;ENSG00000196628:ENST00000567880:exon7:c.G609A:p.L203L;	0.999995925284028	1.0
18	52942851	A	C	18	55275620	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.T308G:p.L103W;TCF4:NM_001243235:exon3:c.T308G:p.L103W;TCF4:NM_001243231:exon8:c.T662G:p.L221W;TCF4:NM_003199:exon10:c.T788G:p.L263W;TCF4:NM_001243230:exon9:c.T782G:p.L261W;TCF4:NM_001243232:exon6:c.T575G:p.L192W;TCF4:NM_001083962:exon10:c.T788G:p.L263W;TCF4:NM_001243227:exon9:c.T716G:p.L239W;TCF4:NM_001243234:exon3:c.T308G:p.L103W;TCF4:NM_001243226:exon11:c.T1094G:p.L365W;TCF4:NM_001243228:exon10:c.T806G:p.L269W;TCF4:NM_001243233:exon6:c.T398G:p.L133W;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.T608G:p.L203W;ENSG00000196628:ENST00000568169:exon9:c.T800G:p.L267W;ENSG00000196628:ENST00000561831:exon3:c.T308G:p.L103W;ENSG00000196628:ENST00000564999:exon10:c.T788G:p.L263W;ENSG00000196628:ENST00000568740:exon9:c.T713G:p.L238W;ENSG00000196628:ENST00000561992:exon6:c.T398G:p.L133W;ENSG00000196628:ENST00000565018:exon10:c.T788G:p.L263W;ENSG00000196628:ENST00000354452:exon10:c.T788G:p.L263W;ENSG00000196628:ENST00000566286:exon9:c.T782G:p.L261W;ENSG00000196628:ENST00000566514:exon9:c.T716G:p.L239W;ENSG00000196628:ENST00000356073:exon10:c.T788G:p.L263W;ENSG00000196628:ENST00000543082:exon8:c.T662G:p.L221W;ENSG00000196628:ENST00000570287:exon3:c.T308G:p.L103W;ENSG00000196628:ENST00000544241:exon6:c.T575G:p.L192W;ENSG00000196628:ENST00000537578:exon9:c.T716G:p.L239W;ENSG00000196628:ENST00000564403:exon10:c.T806G:p.L269W;ENSG00000196628:ENST00000570177:exon5:c.T398G:p.L133W;ENSG00000196628:ENST00000457482:exon3:c.T308G:p.L103W;ENSG00000196628:ENST00000569012:exon5:c.T398G:p.L133W;ENSG00000196628:ENST00000568673:exon9:c.T716G:p.L239W;ENSG00000196628:ENST00000540999:exon9:c.T716G:p.L239W;ENSG00000196628:ENST00000537856:exon5:c.T398G:p.L133W;ENSG00000196628:ENST00000398339:exon11:c.T1094G:p.L365W;ENSG00000196628:ENST00000564228:exon6:c.T575G:p.L192W;ENSG00000196628:ENST00000567880:exon7:c.T608G:p.L203W;	0.906063605915758	0.82
18	52942851	A	G	18	55275620	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.T308C:p.L103S;TCF4:NM_001243235:exon3:c.T308C:p.L103S;TCF4:NM_001243231:exon8:c.T662C:p.L221S;TCF4:NM_003199:exon10:c.T788C:p.L263S;TCF4:NM_001243230:exon9:c.T782C:p.L261S;TCF4:NM_001243232:exon6:c.T575C:p.L192S;TCF4:NM_001083962:exon10:c.T788C:p.L263S;TCF4:NM_001243227:exon9:c.T716C:p.L239S;TCF4:NM_001243234:exon3:c.T308C:p.L103S;TCF4:NM_001243226:exon11:c.T1094C:p.L365S;TCF4:NM_001243228:exon10:c.T806C:p.L269S;TCF4:NM_001243233:exon6:c.T398C:p.L133S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.T608C:p.L203S;ENSG00000196628:ENST00000568169:exon9:c.T800C:p.L267S;ENSG00000196628:ENST00000561831:exon3:c.T308C:p.L103S;ENSG00000196628:ENST00000564999:exon10:c.T788C:p.L263S;ENSG00000196628:ENST00000568740:exon9:c.T713C:p.L238S;ENSG00000196628:ENST00000561992:exon6:c.T398C:p.L133S;ENSG00000196628:ENST00000565018:exon10:c.T788C:p.L263S;ENSG00000196628:ENST00000354452:exon10:c.T788C:p.L263S;ENSG00000196628:ENST00000566286:exon9:c.T782C:p.L261S;ENSG00000196628:ENST00000566514:exon9:c.T716C:p.L239S;ENSG00000196628:ENST00000356073:exon10:c.T788C:p.L263S;ENSG00000196628:ENST00000543082:exon8:c.T662C:p.L221S;ENSG00000196628:ENST00000570287:exon3:c.T308C:p.L103S;ENSG00000196628:ENST00000544241:exon6:c.T575C:p.L192S;ENSG00000196628:ENST00000537578:exon9:c.T716C:p.L239S;ENSG00000196628:ENST00000564403:exon10:c.T806C:p.L269S;ENSG00000196628:ENST00000570177:exon5:c.T398C:p.L133S;ENSG00000196628:ENST00000457482:exon3:c.T308C:p.L103S;ENSG00000196628:ENST00000569012:exon5:c.T398C:p.L133S;ENSG00000196628:ENST00000568673:exon9:c.T716C:p.L239S;ENSG00000196628:ENST00000540999:exon9:c.T716C:p.L239S;ENSG00000196628:ENST00000537856:exon5:c.T398C:p.L133S;ENSG00000196628:ENST00000398339:exon11:c.T1094C:p.L365S;ENSG00000196628:ENST00000564228:exon6:c.T575C:p.L192S;ENSG00000196628:ENST00000567880:exon7:c.T608C:p.L203S;	0.980006380864808	0.914
18	52942851	A	T	18	55275620	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243236:exon3:c.T308A:p.L103X;TCF4:NM_001243235:exon3:c.T308A:p.L103X;TCF4:NM_001243231:exon8:c.T662A:p.L221X;TCF4:NM_003199:exon10:c.T788A:p.L263X;TCF4:NM_001243230:exon9:c.T782A:p.L261X;TCF4:NM_001243232:exon6:c.T575A:p.L192X;TCF4:NM_001083962:exon10:c.T788A:p.L263X;TCF4:NM_001243227:exon9:c.T716A:p.L239X;TCF4:NM_001243234:exon3:c.T308A:p.L103X;TCF4:NM_001243226:exon11:c.T1094A:p.L365X;TCF4:NM_001243228:exon10:c.T806A:p.L269X;TCF4:NM_001243233:exon6:c.T398A:p.L133X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon8:c.T608A:p.L203X;ENSG00000196628:ENST00000568169:exon9:c.T800A:p.L267X;ENSG00000196628:ENST00000561831:exon3:c.T308A:p.L103X;ENSG00000196628:ENST00000564999:exon10:c.T788A:p.L263X;ENSG00000196628:ENST00000568740:exon9:c.T713A:p.L238X;ENSG00000196628:ENST00000561992:exon6:c.T398A:p.L133X;ENSG00000196628:ENST00000565018:exon10:c.T788A:p.L263X;ENSG00000196628:ENST00000354452:exon10:c.T788A:p.L263X;ENSG00000196628:ENST00000566286:exon9:c.T782A:p.L261X;ENSG00000196628:ENST00000566514:exon9:c.T716A:p.L239X;ENSG00000196628:ENST00000356073:exon10:c.T788A:p.L263X;ENSG00000196628:ENST00000543082:exon8:c.T662A:p.L221X;ENSG00000196628:ENST00000570287:exon3:c.T308A:p.L103X;ENSG00000196628:ENST00000544241:exon6:c.T575A:p.L192X;ENSG00000196628:ENST00000537578:exon9:c.T716A:p.L239X;ENSG00000196628:ENST00000564403:exon10:c.T806A:p.L269X;ENSG00000196628:ENST00000570177:exon5:c.T398A:p.L133X;ENSG00000196628:ENST00000457482:exon3:c.T308A:p.L103X;ENSG00000196628:ENST00000569012:exon5:c.T398A:p.L133X;ENSG00000196628:ENST00000568673:exon9:c.T716A:p.L239X;ENSG00000196628:ENST00000540999:exon9:c.T716A:p.L239X;ENSG00000196628:ENST00000537856:exon5:c.T398A:p.L133X;ENSG00000196628:ENST00000398339:exon11:c.T1094A:p.L365X;ENSG00000196628:ENST00000564228:exon6:c.T575A:p.L192X;ENSG00000196628:ENST00000567880:exon7:c.T608A:p.L203X;	0.860761789040149	0.67
18	52942852	A	C	18	55275621	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.T307G:p.L103V;TCF4:NM_001243235:exon3:c.T307G:p.L103V;TCF4:NM_001243231:exon8:c.T661G:p.L221V;TCF4:NM_003199:exon10:c.T787G:p.L263V;TCF4:NM_001243230:exon9:c.T781G:p.L261V;TCF4:NM_001243232:exon6:c.T574G:p.L192V;TCF4:NM_001083962:exon10:c.T787G:p.L263V;TCF4:NM_001243227:exon9:c.T715G:p.L239V;TCF4:NM_001243234:exon3:c.T307G:p.L103V;TCF4:NM_001243226:exon11:c.T1093G:p.L365V;TCF4:NM_001243228:exon10:c.T805G:p.L269V;TCF4:NM_001243233:exon6:c.T397G:p.L133V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.T607G:p.L203V;ENSG00000196628:ENST00000568169:exon9:c.T799G:p.L267V;ENSG00000196628:ENST00000561831:exon3:c.T307G:p.L103V;ENSG00000196628:ENST00000564999:exon10:c.T787G:p.L263V;ENSG00000196628:ENST00000568740:exon9:c.T712G:p.L238V;ENSG00000196628:ENST00000561992:exon6:c.T397G:p.L133V;ENSG00000196628:ENST00000565018:exon10:c.T787G:p.L263V;ENSG00000196628:ENST00000354452:exon10:c.T787G:p.L263V;ENSG00000196628:ENST00000566286:exon9:c.T781G:p.L261V;ENSG00000196628:ENST00000566514:exon9:c.T715G:p.L239V;ENSG00000196628:ENST00000356073:exon10:c.T787G:p.L263V;ENSG00000196628:ENST00000543082:exon8:c.T661G:p.L221V;ENSG00000196628:ENST00000570287:exon3:c.T307G:p.L103V;ENSG00000196628:ENST00000544241:exon6:c.T574G:p.L192V;ENSG00000196628:ENST00000537578:exon9:c.T715G:p.L239V;ENSG00000196628:ENST00000564403:exon10:c.T805G:p.L269V;ENSG00000196628:ENST00000570177:exon5:c.T397G:p.L133V;ENSG00000196628:ENST00000457482:exon3:c.T307G:p.L103V;ENSG00000196628:ENST00000569012:exon5:c.T397G:p.L133V;ENSG00000196628:ENST00000568673:exon9:c.T715G:p.L239V;ENSG00000196628:ENST00000540999:exon9:c.T715G:p.L239V;ENSG00000196628:ENST00000537856:exon5:c.T397G:p.L133V;ENSG00000196628:ENST00000398339:exon11:c.T1093G:p.L365V;ENSG00000196628:ENST00000564228:exon6:c.T574G:p.L192V;ENSG00000196628:ENST00000567880:exon7:c.T607G:p.L203V;	0.0438689259719574	0.31
18	52942852	A	G	18	55275621	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon3:c.T307C:p.L103L;TCF4:NM_001243235:exon3:c.T307C:p.L103L;TCF4:NM_001243231:exon8:c.T661C:p.L221L;TCF4:NM_003199:exon10:c.T787C:p.L263L;TCF4:NM_001243230:exon9:c.T781C:p.L261L;TCF4:NM_001243232:exon6:c.T574C:p.L192L;TCF4:NM_001083962:exon10:c.T787C:p.L263L;TCF4:NM_001243227:exon9:c.T715C:p.L239L;TCF4:NM_001243234:exon3:c.T307C:p.L103L;TCF4:NM_001243226:exon11:c.T1093C:p.L365L;TCF4:NM_001243228:exon10:c.T805C:p.L269L;TCF4:NM_001243233:exon6:c.T397C:p.L133L;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.T607C:p.L203L;ENSG00000196628:ENST00000568169:exon9:c.T799C:p.L267L;ENSG00000196628:ENST00000561831:exon3:c.T307C:p.L103L;ENSG00000196628:ENST00000564999:exon10:c.T787C:p.L263L;ENSG00000196628:ENST00000568740:exon9:c.T712C:p.L238L;ENSG00000196628:ENST00000561992:exon6:c.T397C:p.L133L;ENSG00000196628:ENST00000565018:exon10:c.T787C:p.L263L;ENSG00000196628:ENST00000354452:exon10:c.T787C:p.L263L;ENSG00000196628:ENST00000566286:exon9:c.T781C:p.L261L;ENSG00000196628:ENST00000566514:exon9:c.T715C:p.L239L;ENSG00000196628:ENST00000356073:exon10:c.T787C:p.L263L;ENSG00000196628:ENST00000543082:exon8:c.T661C:p.L221L;ENSG00000196628:ENST00000570287:exon3:c.T307C:p.L103L;ENSG00000196628:ENST00000544241:exon6:c.T574C:p.L192L;ENSG00000196628:ENST00000537578:exon9:c.T715C:p.L239L;ENSG00000196628:ENST00000564403:exon10:c.T805C:p.L269L;ENSG00000196628:ENST00000570177:exon5:c.T397C:p.L133L;ENSG00000196628:ENST00000457482:exon3:c.T307C:p.L103L;ENSG00000196628:ENST00000569012:exon5:c.T397C:p.L133L;ENSG00000196628:ENST00000568673:exon9:c.T715C:p.L239L;ENSG00000196628:ENST00000540999:exon9:c.T715C:p.L239L;ENSG00000196628:ENST00000537856:exon5:c.T397C:p.L133L;ENSG00000196628:ENST00000398339:exon11:c.T1093C:p.L365L;ENSG00000196628:ENST00000564228:exon6:c.T574C:p.L192L;ENSG00000196628:ENST00000567880:exon7:c.T607C:p.L203L;	9.76045225020242E-4	0.062
18	52942852	A	T	18	55275621	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.T307A:p.L103M;TCF4:NM_001243235:exon3:c.T307A:p.L103M;TCF4:NM_001243231:exon8:c.T661A:p.L221M;TCF4:NM_003199:exon10:c.T787A:p.L263M;TCF4:NM_001243230:exon9:c.T781A:p.L261M;TCF4:NM_001243232:exon6:c.T574A:p.L192M;TCF4:NM_001083962:exon10:c.T787A:p.L263M;TCF4:NM_001243227:exon9:c.T715A:p.L239M;TCF4:NM_001243234:exon3:c.T307A:p.L103M;TCF4:NM_001243226:exon11:c.T1093A:p.L365M;TCF4:NM_001243228:exon10:c.T805A:p.L269M;TCF4:NM_001243233:exon6:c.T397A:p.L133M;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.T607A:p.L203M;ENSG00000196628:ENST00000568169:exon9:c.T799A:p.L267M;ENSG00000196628:ENST00000561831:exon3:c.T307A:p.L103M;ENSG00000196628:ENST00000564999:exon10:c.T787A:p.L263M;ENSG00000196628:ENST00000568740:exon9:c.T712A:p.L238M;ENSG00000196628:ENST00000561992:exon6:c.T397A:p.L133M;ENSG00000196628:ENST00000565018:exon10:c.T787A:p.L263M;ENSG00000196628:ENST00000354452:exon10:c.T787A:p.L263M;ENSG00000196628:ENST00000566286:exon9:c.T781A:p.L261M;ENSG00000196628:ENST00000566514:exon9:c.T715A:p.L239M;ENSG00000196628:ENST00000356073:exon10:c.T787A:p.L263M;ENSG00000196628:ENST00000543082:exon8:c.T661A:p.L221M;ENSG00000196628:ENST00000570287:exon3:c.T307A:p.L103M;ENSG00000196628:ENST00000544241:exon6:c.T574A:p.L192M;ENSG00000196628:ENST00000537578:exon9:c.T715A:p.L239M;ENSG00000196628:ENST00000564403:exon10:c.T805A:p.L269M;ENSG00000196628:ENST00000570177:exon5:c.T397A:p.L133M;ENSG00000196628:ENST00000457482:exon3:c.T307A:p.L103M;ENSG00000196628:ENST00000569012:exon5:c.T397A:p.L133M;ENSG00000196628:ENST00000568673:exon9:c.T715A:p.L239M;ENSG00000196628:ENST00000540999:exon9:c.T715A:p.L239M;ENSG00000196628:ENST00000537856:exon5:c.T397A:p.L133M;ENSG00000196628:ENST00000398339:exon11:c.T1093A:p.L365M;ENSG00000196628:ENST00000564228:exon6:c.T574A:p.L192M;ENSG00000196628:ENST00000567880:exon7:c.T607A:p.L203M;	4.32551534289822E-4	0.0
18	52942982	A	C	18	55275751	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.T177G:p.D59E;TCF4:NM_001243235:exon3:c.T177G:p.D59E;TCF4:NM_001243231:exon8:c.T531G:p.D177E;TCF4:NM_003199:exon10:c.T657G:p.D219E;TCF4:NM_001243230:exon9:c.T651G:p.D217E;TCF4:NM_001243232:exon6:c.T444G:p.D148E;TCF4:NM_001083962:exon10:c.T657G:p.D219E;TCF4:NM_001243227:exon9:c.T585G:p.D195E;TCF4:NM_001243234:exon3:c.T177G:p.D59E;TCF4:NM_001243226:exon11:c.T963G:p.D321E;TCF4:NM_001243228:exon10:c.T675G:p.D225E;TCF4:NM_001243233:exon6:c.T267G:p.D89E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.T477G:p.D159E;ENSG00000196628:ENST00000562638:exon5:c.T267G:p.D89E;ENSG00000196628:ENST00000568169:exon9:c.T669G:p.D223E;ENSG00000196628:ENST00000561831:exon3:c.T177G:p.D59E;ENSG00000196628:ENST00000564999:exon10:c.T657G:p.D219E;ENSG00000196628:ENST00000568740:exon9:c.T582G:p.D194E;ENSG00000196628:ENST00000568186:exon5:c.T267G:p.D89E;ENSG00000196628:ENST00000561992:exon6:c.T267G:p.D89E;ENSG00000196628:ENST00000565018:exon10:c.T657G:p.D219E;ENSG00000196628:ENST00000354452:exon10:c.T657G:p.D219E;ENSG00000196628:ENST00000566286:exon9:c.T651G:p.D217E;ENSG00000196628:ENST00000566514:exon9:c.T585G:p.D195E;ENSG00000196628:ENST00000356073:exon10:c.T657G:p.D219E;ENSG00000196628:ENST00000543082:exon8:c.T531G:p.D177E;ENSG00000196628:ENST00000570287:exon3:c.T177G:p.D59E;ENSG00000196628:ENST00000562607:exon5:c.T267G:p.D89E;ENSG00000196628:ENST00000544241:exon6:c.T444G:p.D148E;ENSG00000196628:ENST00000537578:exon9:c.T585G:p.D195E;ENSG00000196628:ENST00000564403:exon10:c.T675G:p.D225E;ENSG00000196628:ENST00000570177:exon5:c.T267G:p.D89E;ENSG00000196628:ENST00000457482:exon3:c.T177G:p.D59E;ENSG00000196628:ENST00000569012:exon5:c.T267G:p.D89E;ENSG00000196628:ENST00000565908:exon9:c.T585G:p.D195E;ENSG00000196628:ENST00000568673:exon9:c.T585G:p.D195E;ENSG00000196628:ENST00000540999:exon9:c.T585G:p.D195E;ENSG00000196628:ENST00000566777:exon6:c.T267G:p.D89E;ENSG00000196628:ENST00000537856:exon5:c.T267G:p.D89E;ENSG00000196628:ENST00000398339:exon11:c.T963G:p.D321E;ENSG00000196628:ENST00000564228:exon6:c.T444G:p.D148E;ENSG00000196628:ENST00000567880:exon7:c.T477G:p.D159E;	0.49494580799874	0.656
18	52942982	A	G	18	55275751	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon3:c.T177C:p.D59D;TCF4:NM_001243235:exon3:c.T177C:p.D59D;TCF4:NM_001243231:exon8:c.T531C:p.D177D;TCF4:NM_003199:exon10:c.T657C:p.D219D;TCF4:NM_001243230:exon9:c.T651C:p.D217D;TCF4:NM_001243232:exon6:c.T444C:p.D148D;TCF4:NM_001083962:exon10:c.T657C:p.D219D;TCF4:NM_001243227:exon9:c.T585C:p.D195D;TCF4:NM_001243234:exon3:c.T177C:p.D59D;TCF4:NM_001243226:exon11:c.T963C:p.D321D;TCF4:NM_001243228:exon10:c.T675C:p.D225D;TCF4:NM_001243233:exon6:c.T267C:p.D89D;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.T477C:p.D159D;ENSG00000196628:ENST00000562638:exon5:c.T267C:p.D89D;ENSG00000196628:ENST00000568169:exon9:c.T669C:p.D223D;ENSG00000196628:ENST00000561831:exon3:c.T177C:p.D59D;ENSG00000196628:ENST00000564999:exon10:c.T657C:p.D219D;ENSG00000196628:ENST00000568740:exon9:c.T582C:p.D194D;ENSG00000196628:ENST00000568186:exon5:c.T267C:p.D89D;ENSG00000196628:ENST00000561992:exon6:c.T267C:p.D89D;ENSG00000196628:ENST00000565018:exon10:c.T657C:p.D219D;ENSG00000196628:ENST00000354452:exon10:c.T657C:p.D219D;ENSG00000196628:ENST00000566286:exon9:c.T651C:p.D217D;ENSG00000196628:ENST00000566514:exon9:c.T585C:p.D195D;ENSG00000196628:ENST00000356073:exon10:c.T657C:p.D219D;ENSG00000196628:ENST00000543082:exon8:c.T531C:p.D177D;ENSG00000196628:ENST00000570287:exon3:c.T177C:p.D59D;ENSG00000196628:ENST00000562607:exon5:c.T267C:p.D89D;ENSG00000196628:ENST00000544241:exon6:c.T444C:p.D148D;ENSG00000196628:ENST00000537578:exon9:c.T585C:p.D195D;ENSG00000196628:ENST00000564403:exon10:c.T675C:p.D225D;ENSG00000196628:ENST00000570177:exon5:c.T267C:p.D89D;ENSG00000196628:ENST00000457482:exon3:c.T177C:p.D59D;ENSG00000196628:ENST00000569012:exon5:c.T267C:p.D89D;ENSG00000196628:ENST00000565908:exon9:c.T585C:p.D195D;ENSG00000196628:ENST00000568673:exon9:c.T585C:p.D195D;ENSG00000196628:ENST00000540999:exon9:c.T585C:p.D195D;ENSG00000196628:ENST00000566777:exon6:c.T267C:p.D89D;ENSG00000196628:ENST00000537856:exon5:c.T267C:p.D89D;ENSG00000196628:ENST00000398339:exon11:c.T963C:p.D321D;ENSG00000196628:ENST00000564228:exon6:c.T444C:p.D148D;ENSG00000196628:ENST00000567880:exon7:c.T477C:p.D159D;	0.709749360262598	0.516
18	52942982	A	T	18	55275751	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.T177A:p.D59E;TCF4:NM_001243235:exon3:c.T177A:p.D59E;TCF4:NM_001243231:exon8:c.T531A:p.D177E;TCF4:NM_003199:exon10:c.T657A:p.D219E;TCF4:NM_001243230:exon9:c.T651A:p.D217E;TCF4:NM_001243232:exon6:c.T444A:p.D148E;TCF4:NM_001083962:exon10:c.T657A:p.D219E;TCF4:NM_001243227:exon9:c.T585A:p.D195E;TCF4:NM_001243234:exon3:c.T177A:p.D59E;TCF4:NM_001243226:exon11:c.T963A:p.D321E;TCF4:NM_001243228:exon10:c.T675A:p.D225E;TCF4:NM_001243233:exon6:c.T267A:p.D89E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.T477A:p.D159E;ENSG00000196628:ENST00000562638:exon5:c.T267A:p.D89E;ENSG00000196628:ENST00000568169:exon9:c.T669A:p.D223E;ENSG00000196628:ENST00000561831:exon3:c.T177A:p.D59E;ENSG00000196628:ENST00000564999:exon10:c.T657A:p.D219E;ENSG00000196628:ENST00000568740:exon9:c.T582A:p.D194E;ENSG00000196628:ENST00000568186:exon5:c.T267A:p.D89E;ENSG00000196628:ENST00000561992:exon6:c.T267A:p.D89E;ENSG00000196628:ENST00000565018:exon10:c.T657A:p.D219E;ENSG00000196628:ENST00000354452:exon10:c.T657A:p.D219E;ENSG00000196628:ENST00000566286:exon9:c.T651A:p.D217E;ENSG00000196628:ENST00000566514:exon9:c.T585A:p.D195E;ENSG00000196628:ENST00000356073:exon10:c.T657A:p.D219E;ENSG00000196628:ENST00000543082:exon8:c.T531A:p.D177E;ENSG00000196628:ENST00000570287:exon3:c.T177A:p.D59E;ENSG00000196628:ENST00000562607:exon5:c.T267A:p.D89E;ENSG00000196628:ENST00000544241:exon6:c.T444A:p.D148E;ENSG00000196628:ENST00000537578:exon9:c.T585A:p.D195E;ENSG00000196628:ENST00000564403:exon10:c.T675A:p.D225E;ENSG00000196628:ENST00000570177:exon5:c.T267A:p.D89E;ENSG00000196628:ENST00000457482:exon3:c.T177A:p.D59E;ENSG00000196628:ENST00000569012:exon5:c.T267A:p.D89E;ENSG00000196628:ENST00000565908:exon9:c.T585A:p.D195E;ENSG00000196628:ENST00000568673:exon9:c.T585A:p.D195E;ENSG00000196628:ENST00000540999:exon9:c.T585A:p.D195E;ENSG00000196628:ENST00000566777:exon6:c.T267A:p.D89E;ENSG00000196628:ENST00000537856:exon5:c.T267A:p.D89E;ENSG00000196628:ENST00000398339:exon11:c.T963A:p.D321E;ENSG00000196628:ENST00000564228:exon6:c.T444A:p.D148E;ENSG00000196628:ENST00000567880:exon7:c.T477A:p.D159E;	0.4834387433009	0.648
18	52942983	T	A	18	55275752	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.A176T:p.D59V;TCF4:NM_001243235:exon3:c.A176T:p.D59V;TCF4:NM_001243231:exon8:c.A530T:p.D177V;TCF4:NM_003199:exon10:c.A656T:p.D219V;TCF4:NM_001243230:exon9:c.A650T:p.D217V;TCF4:NM_001243232:exon6:c.A443T:p.D148V;TCF4:NM_001083962:exon10:c.A656T:p.D219V;TCF4:NM_001243227:exon9:c.A584T:p.D195V;TCF4:NM_001243234:exon3:c.A176T:p.D59V;TCF4:NM_001243226:exon11:c.A962T:p.D321V;TCF4:NM_001243228:exon10:c.A674T:p.D225V;TCF4:NM_001243233:exon6:c.A266T:p.D89V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.A476T:p.D159V;ENSG00000196628:ENST00000562638:exon5:c.A266T:p.D89V;ENSG00000196628:ENST00000568169:exon9:c.A668T:p.D223V;ENSG00000196628:ENST00000561831:exon3:c.A176T:p.D59V;ENSG00000196628:ENST00000564999:exon10:c.A656T:p.D219V;ENSG00000196628:ENST00000568740:exon9:c.A581T:p.D194V;ENSG00000196628:ENST00000568186:exon5:c.A266T:p.D89V;ENSG00000196628:ENST00000561992:exon6:c.A266T:p.D89V;ENSG00000196628:ENST00000565018:exon10:c.A656T:p.D219V;ENSG00000196628:ENST00000354452:exon10:c.A656T:p.D219V;ENSG00000196628:ENST00000566286:exon9:c.A650T:p.D217V;ENSG00000196628:ENST00000566514:exon9:c.A584T:p.D195V;ENSG00000196628:ENST00000356073:exon10:c.A656T:p.D219V;ENSG00000196628:ENST00000543082:exon8:c.A530T:p.D177V;ENSG00000196628:ENST00000570287:exon3:c.A176T:p.D59V;ENSG00000196628:ENST00000562607:exon5:c.A266T:p.D89V;ENSG00000196628:ENST00000544241:exon6:c.A443T:p.D148V;ENSG00000196628:ENST00000537578:exon9:c.A584T:p.D195V;ENSG00000196628:ENST00000564403:exon10:c.A674T:p.D225V;ENSG00000196628:ENST00000570177:exon5:c.A266T:p.D89V;ENSG00000196628:ENST00000457482:exon3:c.A176T:p.D59V;ENSG00000196628:ENST00000569012:exon5:c.A266T:p.D89V;ENSG00000196628:ENST00000565908:exon9:c.A584T:p.D195V;ENSG00000196628:ENST00000568673:exon9:c.A584T:p.D195V;ENSG00000196628:ENST00000540999:exon9:c.A584T:p.D195V;ENSG00000196628:ENST00000566777:exon6:c.A266T:p.D89V;ENSG00000196628:ENST00000537856:exon5:c.A266T:p.D89V;ENSG00000196628:ENST00000398339:exon11:c.A962T:p.D321V;ENSG00000196628:ENST00000564228:exon6:c.A443T:p.D148V;ENSG00000196628:ENST00000567880:exon7:c.A476T:p.D159V;	0.570129788223073	0.602
18	52942983	T	C	18	55275752	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.A176G:p.D59G;TCF4:NM_001243235:exon3:c.A176G:p.D59G;TCF4:NM_001243231:exon8:c.A530G:p.D177G;TCF4:NM_003199:exon10:c.A656G:p.D219G;TCF4:NM_001243230:exon9:c.A650G:p.D217G;TCF4:NM_001243232:exon6:c.A443G:p.D148G;TCF4:NM_001083962:exon10:c.A656G:p.D219G;TCF4:NM_001243227:exon9:c.A584G:p.D195G;TCF4:NM_001243234:exon3:c.A176G:p.D59G;TCF4:NM_001243226:exon11:c.A962G:p.D321G;TCF4:NM_001243228:exon10:c.A674G:p.D225G;TCF4:NM_001243233:exon6:c.A266G:p.D89G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.A476G:p.D159G;ENSG00000196628:ENST00000562638:exon5:c.A266G:p.D89G;ENSG00000196628:ENST00000568169:exon9:c.A668G:p.D223G;ENSG00000196628:ENST00000561831:exon3:c.A176G:p.D59G;ENSG00000196628:ENST00000564999:exon10:c.A656G:p.D219G;ENSG00000196628:ENST00000568740:exon9:c.A581G:p.D194G;ENSG00000196628:ENST00000568186:exon5:c.A266G:p.D89G;ENSG00000196628:ENST00000561992:exon6:c.A266G:p.D89G;ENSG00000196628:ENST00000565018:exon10:c.A656G:p.D219G;ENSG00000196628:ENST00000354452:exon10:c.A656G:p.D219G;ENSG00000196628:ENST00000566286:exon9:c.A650G:p.D217G;ENSG00000196628:ENST00000566514:exon9:c.A584G:p.D195G;ENSG00000196628:ENST00000356073:exon10:c.A656G:p.D219G;ENSG00000196628:ENST00000543082:exon8:c.A530G:p.D177G;ENSG00000196628:ENST00000570287:exon3:c.A176G:p.D59G;ENSG00000196628:ENST00000562607:exon5:c.A266G:p.D89G;ENSG00000196628:ENST00000544241:exon6:c.A443G:p.D148G;ENSG00000196628:ENST00000537578:exon9:c.A584G:p.D195G;ENSG00000196628:ENST00000564403:exon10:c.A674G:p.D225G;ENSG00000196628:ENST00000570177:exon5:c.A266G:p.D89G;ENSG00000196628:ENST00000457482:exon3:c.A176G:p.D59G;ENSG00000196628:ENST00000569012:exon5:c.A266G:p.D89G;ENSG00000196628:ENST00000565908:exon9:c.A584G:p.D195G;ENSG00000196628:ENST00000568673:exon9:c.A584G:p.D195G;ENSG00000196628:ENST00000540999:exon9:c.A584G:p.D195G;ENSG00000196628:ENST00000566777:exon6:c.A266G:p.D89G;ENSG00000196628:ENST00000537856:exon5:c.A266G:p.D89G;ENSG00000196628:ENST00000398339:exon11:c.A962G:p.D321G;ENSG00000196628:ENST00000564228:exon6:c.A443G:p.D148G;ENSG00000196628:ENST00000567880:exon7:c.A476G:p.D159G;	0.723860185166757	0.736
18	52942983	T	G	18	55275752	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon3:c.A176C:p.D59A;TCF4:NM_001243235:exon3:c.A176C:p.D59A;TCF4:NM_001243231:exon8:c.A530C:p.D177A;TCF4:NM_003199:exon10:c.A656C:p.D219A;TCF4:NM_001243230:exon9:c.A650C:p.D217A;TCF4:NM_001243232:exon6:c.A443C:p.D148A;TCF4:NM_001083962:exon10:c.A656C:p.D219A;TCF4:NM_001243227:exon9:c.A584C:p.D195A;TCF4:NM_001243234:exon3:c.A176C:p.D59A;TCF4:NM_001243226:exon11:c.A962C:p.D321A;TCF4:NM_001243228:exon10:c.A674C:p.D225A;TCF4:NM_001243233:exon6:c.A266C:p.D89A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon8:c.A476C:p.D159A;ENSG00000196628:ENST00000562638:exon5:c.A266C:p.D89A;ENSG00000196628:ENST00000568169:exon9:c.A668C:p.D223A;ENSG00000196628:ENST00000561831:exon3:c.A176C:p.D59A;ENSG00000196628:ENST00000564999:exon10:c.A656C:p.D219A;ENSG00000196628:ENST00000568740:exon9:c.A581C:p.D194A;ENSG00000196628:ENST00000568186:exon5:c.A266C:p.D89A;ENSG00000196628:ENST00000561992:exon6:c.A266C:p.D89A;ENSG00000196628:ENST00000565018:exon10:c.A656C:p.D219A;ENSG00000196628:ENST00000354452:exon10:c.A656C:p.D219A;ENSG00000196628:ENST00000566286:exon9:c.A650C:p.D217A;ENSG00000196628:ENST00000566514:exon9:c.A584C:p.D195A;ENSG00000196628:ENST00000356073:exon10:c.A656C:p.D219A;ENSG00000196628:ENST00000543082:exon8:c.A530C:p.D177A;ENSG00000196628:ENST00000570287:exon3:c.A176C:p.D59A;ENSG00000196628:ENST00000562607:exon5:c.A266C:p.D89A;ENSG00000196628:ENST00000544241:exon6:c.A443C:p.D148A;ENSG00000196628:ENST00000537578:exon9:c.A584C:p.D195A;ENSG00000196628:ENST00000564403:exon10:c.A674C:p.D225A;ENSG00000196628:ENST00000570177:exon5:c.A266C:p.D89A;ENSG00000196628:ENST00000457482:exon3:c.A176C:p.D59A;ENSG00000196628:ENST00000569012:exon5:c.A266C:p.D89A;ENSG00000196628:ENST00000565908:exon9:c.A584C:p.D195A;ENSG00000196628:ENST00000568673:exon9:c.A584C:p.D195A;ENSG00000196628:ENST00000540999:exon9:c.A584C:p.D195A;ENSG00000196628:ENST00000566777:exon6:c.A266C:p.D89A;ENSG00000196628:ENST00000537856:exon5:c.A266C:p.D89A;ENSG00000196628:ENST00000398339:exon11:c.A962C:p.D321A;ENSG00000196628:ENST00000564228:exon6:c.A443C:p.D148A;ENSG00000196628:ENST00000567880:exon7:c.A476C:p.D159A;	0.483318288235592	0.678
18	52942984	C	A	18	55275753	y	y	splicing	TCF4(NM_001243226:exon12:c.962-1G>T;NM_001243230:exon10:c.650-1G>T;NM_001243234:exon4:c.176-1G>T;NM_001243232:exon7:c.443-1G>T;NM_001243236:exon4:c.176-1G>T;NM_001083962:exon11:c.656-1G>T;NM_003199:exon11:c.656-1G>T;NM_001243235:exon4:c.176-1G>T;NM_001243233:exon7:c.266-1G>T;NM_001243231:exon9:c.530-1G>T;NM_001243228:exon11:c.674-1G>T;NM_001243227:exon10:c.584-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.656-1G>T;ENST00000356073:exon11:c.656-1G>T;ENST00000568673:exon10:c.584-1G>T;ENST00000543082:exon9:c.530-1G>T;ENST00000457482:exon4:c.176-1G>T;ENST00000540999:exon10:c.584-1G>T;ENST00000537578:exon10:c.584-1G>T;ENST00000564999:exon11:c.656-1G>T;ENST00000568740:exon10:c.581-1G>T;ENST00000537856:exon6:c.266-1G>T;ENST00000544241:exon7:c.443-1G>T;ENST00000561992:exon7:c.266-1G>T;ENST00000561831:exon4:c.176-1G>T;ENST00000565018:exon11:c.656-1G>T;ENST00000566279:exon9:c.476-1G>T;ENST00000566286:exon10:c.650-1G>T;ENST00000567880:exon8:c.476-1G>T;ENST00000564228:exon7:c.443-1G>T;ENST00000570287:exon4:c.176-1G>T;ENST00000398339:exon12:c.962-1G>T;ENST00000564403:exon11:c.674-1G>T;ENST00000570177:exon6:c.266-1G>T;ENST00000569012:exon6:c.266-1G>T;ENST00000566514:exon10:c.584-1G>T;ENST00000568169:exon10:c.668-1G>T;ENST00000562607:exon6:c.266-1G>T;ENST00000568186:exon6:c.266-1G>T;ENST00000562638:exon6:c.266-1G>T;ENST00000566777:exon7:c.266-1G>T;ENST00000565908:exon10:c.584-1G>T)	.	.	0.999990361384395	0.938
18	52942984	C	G	18	55275753	y	y	splicing	TCF4(NM_001243226:exon12:c.962-1G>C;NM_001243230:exon10:c.650-1G>C;NM_001243234:exon4:c.176-1G>C;NM_001243232:exon7:c.443-1G>C;NM_001243236:exon4:c.176-1G>C;NM_001083962:exon11:c.656-1G>C;NM_003199:exon11:c.656-1G>C;NM_001243235:exon4:c.176-1G>C;NM_001243233:exon7:c.266-1G>C;NM_001243231:exon9:c.530-1G>C;NM_001243228:exon11:c.674-1G>C;NM_001243227:exon10:c.584-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.656-1G>C;ENST00000356073:exon11:c.656-1G>C;ENST00000568673:exon10:c.584-1G>C;ENST00000543082:exon9:c.530-1G>C;ENST00000457482:exon4:c.176-1G>C;ENST00000540999:exon10:c.584-1G>C;ENST00000537578:exon10:c.584-1G>C;ENST00000564999:exon11:c.656-1G>C;ENST00000568740:exon10:c.581-1G>C;ENST00000537856:exon6:c.266-1G>C;ENST00000544241:exon7:c.443-1G>C;ENST00000561992:exon7:c.266-1G>C;ENST00000561831:exon4:c.176-1G>C;ENST00000565018:exon11:c.656-1G>C;ENST00000566279:exon9:c.476-1G>C;ENST00000566286:exon10:c.650-1G>C;ENST00000567880:exon8:c.476-1G>C;ENST00000564228:exon7:c.443-1G>C;ENST00000570287:exon4:c.176-1G>C;ENST00000398339:exon12:c.962-1G>C;ENST00000564403:exon11:c.674-1G>C;ENST00000570177:exon6:c.266-1G>C;ENST00000569012:exon6:c.266-1G>C;ENST00000566514:exon10:c.584-1G>C;ENST00000568169:exon10:c.668-1G>C;ENST00000562607:exon6:c.266-1G>C;ENST00000568186:exon6:c.266-1G>C;ENST00000562638:exon6:c.266-1G>C;ENST00000566777:exon7:c.266-1G>C;ENST00000565908:exon10:c.584-1G>C)	.	.	0.999990361384395	0.938
18	52942984	C	T	18	55275753	y	y	splicing	TCF4(NM_001243226:exon12:c.962-1G>A;NM_001243230:exon10:c.650-1G>A;NM_001243234:exon4:c.176-1G>A;NM_001243232:exon7:c.443-1G>A;NM_001243236:exon4:c.176-1G>A;NM_001083962:exon11:c.656-1G>A;NM_003199:exon11:c.656-1G>A;NM_001243235:exon4:c.176-1G>A;NM_001243233:exon7:c.266-1G>A;NM_001243231:exon9:c.530-1G>A;NM_001243228:exon11:c.674-1G>A;NM_001243227:exon10:c.584-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.656-1G>A;ENST00000356073:exon11:c.656-1G>A;ENST00000568673:exon10:c.584-1G>A;ENST00000543082:exon9:c.530-1G>A;ENST00000457482:exon4:c.176-1G>A;ENST00000540999:exon10:c.584-1G>A;ENST00000537578:exon10:c.584-1G>A;ENST00000564999:exon11:c.656-1G>A;ENST00000568740:exon10:c.581-1G>A;ENST00000537856:exon6:c.266-1G>A;ENST00000544241:exon7:c.443-1G>A;ENST00000561992:exon7:c.266-1G>A;ENST00000561831:exon4:c.176-1G>A;ENST00000565018:exon11:c.656-1G>A;ENST00000566279:exon9:c.476-1G>A;ENST00000566286:exon10:c.650-1G>A;ENST00000567880:exon8:c.476-1G>A;ENST00000564228:exon7:c.443-1G>A;ENST00000570287:exon4:c.176-1G>A;ENST00000398339:exon12:c.962-1G>A;ENST00000564403:exon11:c.674-1G>A;ENST00000570177:exon6:c.266-1G>A;ENST00000569012:exon6:c.266-1G>A;ENST00000566514:exon10:c.584-1G>A;ENST00000568169:exon10:c.668-1G>A;ENST00000562607:exon6:c.266-1G>A;ENST00000568186:exon6:c.266-1G>A;ENST00000562638:exon6:c.266-1G>A;ENST00000566777:exon7:c.266-1G>A;ENST00000565908:exon10:c.584-1G>A)	.	.	0.999990361384395	0.938
18	52942985	T	A	18	55275754	y	y	splicing	TCF4(NM_001243226:exon12:c.962-2A>T;NM_001243230:exon10:c.650-2A>T;NM_001243234:exon4:c.176-2A>T;NM_001243232:exon7:c.443-2A>T;NM_001243236:exon4:c.176-2A>T;NM_001083962:exon11:c.656-2A>T;NM_003199:exon11:c.656-2A>T;NM_001243235:exon4:c.176-2A>T;NM_001243233:exon7:c.266-2A>T;NM_001243231:exon9:c.530-2A>T;NM_001243228:exon11:c.674-2A>T;NM_001243227:exon10:c.584-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.656-2A>T;ENST00000356073:exon11:c.656-2A>T;ENST00000568673:exon10:c.584-2A>T;ENST00000543082:exon9:c.530-2A>T;ENST00000457482:exon4:c.176-2A>T;ENST00000540999:exon10:c.584-2A>T;ENST00000537578:exon10:c.584-2A>T;ENST00000564999:exon11:c.656-2A>T;ENST00000568740:exon10:c.581-2A>T;ENST00000537856:exon6:c.266-2A>T;ENST00000544241:exon7:c.443-2A>T;ENST00000561992:exon7:c.266-2A>T;ENST00000561831:exon4:c.176-2A>T;ENST00000565018:exon11:c.656-2A>T;ENST00000566279:exon9:c.476-2A>T;ENST00000566286:exon10:c.650-2A>T;ENST00000567880:exon8:c.476-2A>T;ENST00000564228:exon7:c.443-2A>T;ENST00000570287:exon4:c.176-2A>T;ENST00000398339:exon12:c.962-2A>T;ENST00000564403:exon11:c.674-2A>T;ENST00000570177:exon6:c.266-2A>T;ENST00000569012:exon6:c.266-2A>T;ENST00000566514:exon10:c.584-2A>T;ENST00000568169:exon10:c.668-2A>T;ENST00000562607:exon6:c.266-2A>T;ENST00000568186:exon6:c.266-2A>T;ENST00000562638:exon6:c.266-2A>T;ENST00000566777:exon7:c.266-2A>T;ENST00000565908:exon10:c.584-2A>T)	.	.	0.999988247793601	0.932
18	52942985	T	C	18	55275754	y	y	splicing	TCF4(NM_001243226:exon12:c.962-2A>G;NM_001243230:exon10:c.650-2A>G;NM_001243234:exon4:c.176-2A>G;NM_001243232:exon7:c.443-2A>G;NM_001243236:exon4:c.176-2A>G;NM_001083962:exon11:c.656-2A>G;NM_003199:exon11:c.656-2A>G;NM_001243235:exon4:c.176-2A>G;NM_001243233:exon7:c.266-2A>G;NM_001243231:exon9:c.530-2A>G;NM_001243228:exon11:c.674-2A>G;NM_001243227:exon10:c.584-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.656-2A>G;ENST00000356073:exon11:c.656-2A>G;ENST00000568673:exon10:c.584-2A>G;ENST00000543082:exon9:c.530-2A>G;ENST00000457482:exon4:c.176-2A>G;ENST00000540999:exon10:c.584-2A>G;ENST00000537578:exon10:c.584-2A>G;ENST00000564999:exon11:c.656-2A>G;ENST00000568740:exon10:c.581-2A>G;ENST00000537856:exon6:c.266-2A>G;ENST00000544241:exon7:c.443-2A>G;ENST00000561992:exon7:c.266-2A>G;ENST00000561831:exon4:c.176-2A>G;ENST00000565018:exon11:c.656-2A>G;ENST00000566279:exon9:c.476-2A>G;ENST00000566286:exon10:c.650-2A>G;ENST00000567880:exon8:c.476-2A>G;ENST00000564228:exon7:c.443-2A>G;ENST00000570287:exon4:c.176-2A>G;ENST00000398339:exon12:c.962-2A>G;ENST00000564403:exon11:c.674-2A>G;ENST00000570177:exon6:c.266-2A>G;ENST00000569012:exon6:c.266-2A>G;ENST00000566514:exon10:c.584-2A>G;ENST00000568169:exon10:c.668-2A>G;ENST00000562607:exon6:c.266-2A>G;ENST00000568186:exon6:c.266-2A>G;ENST00000562638:exon6:c.266-2A>G;ENST00000566777:exon7:c.266-2A>G;ENST00000565908:exon10:c.584-2A>G)	.	.	0.999988247793601	0.932
18	52942985	T	G	18	55275754	y	y	splicing	TCF4(NM_001243226:exon12:c.962-2A>C;NM_001243230:exon10:c.650-2A>C;NM_001243234:exon4:c.176-2A>C;NM_001243232:exon7:c.443-2A>C;NM_001243236:exon4:c.176-2A>C;NM_001083962:exon11:c.656-2A>C;NM_003199:exon11:c.656-2A>C;NM_001243235:exon4:c.176-2A>C;NM_001243233:exon7:c.266-2A>C;NM_001243231:exon9:c.530-2A>C;NM_001243228:exon11:c.674-2A>C;NM_001243227:exon10:c.584-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon11:c.656-2A>C;ENST00000356073:exon11:c.656-2A>C;ENST00000568673:exon10:c.584-2A>C;ENST00000543082:exon9:c.530-2A>C;ENST00000457482:exon4:c.176-2A>C;ENST00000540999:exon10:c.584-2A>C;ENST00000537578:exon10:c.584-2A>C;ENST00000564999:exon11:c.656-2A>C;ENST00000568740:exon10:c.581-2A>C;ENST00000537856:exon6:c.266-2A>C;ENST00000544241:exon7:c.443-2A>C;ENST00000561992:exon7:c.266-2A>C;ENST00000561831:exon4:c.176-2A>C;ENST00000565018:exon11:c.656-2A>C;ENST00000566279:exon9:c.476-2A>C;ENST00000566286:exon10:c.650-2A>C;ENST00000567880:exon8:c.476-2A>C;ENST00000564228:exon7:c.443-2A>C;ENST00000570287:exon4:c.176-2A>C;ENST00000398339:exon12:c.962-2A>C;ENST00000564403:exon11:c.674-2A>C;ENST00000570177:exon6:c.266-2A>C;ENST00000569012:exon6:c.266-2A>C;ENST00000566514:exon10:c.584-2A>C;ENST00000568169:exon10:c.668-2A>C;ENST00000562607:exon6:c.266-2A>C;ENST00000568186:exon6:c.266-2A>C;ENST00000562638:exon6:c.266-2A>C;ENST00000566777:exon7:c.266-2A>C;ENST00000565908:exon10:c.584-2A>C)	.	.	0.999988247793601	0.932
18	52942986	G	A	18	55275755	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.995037599351184	0.522
18	52942986	G	C	18	55275755	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999973573905092	0.972
18	52942986	G	T	18	55275755	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999916126181447	0.908
18	52942987	T	A	18	55275756	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.2785178210258E-5	0.008
18	52942987	T	C	18	55275756	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.76044321196986E-5	0.008
18	52942987	T	G	18	55275756	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.08492516885862E-5	0.0
18	52942988	A	C	18	55275757	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00522377740421572	0.216
18	52942988	A	G	18	55275757	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00458490782572491	0.062
18	52942988	A	T	18	55275757	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00796630983828923	0.224
18	52942989	A	C	18	55275758	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.446449071095971	0.574
18	52942989	A	G	18	55275758	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0630642135059758	0.416
18	52942989	A	T	18	55275758	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.431164285290228	0.596
18	52942990	A	C	18	55275759	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00287108769000337	0.046
18	52942990	A	G	18	55275759	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.42618793573258E-4	0.008
18	52942990	A	T	18	55275759	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00601774639620734	0.104
18	52942991	G	A	18	55275760	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.32810569450424E-4	0.008
18	52942991	G	C	18	55275760	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.97922635490288E-4	0.06
18	52942991	G	T	18	55275760	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00144055786447526	0.058
18	52942992	G	A	18	55275761	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.25495737991559E-5	0.012
18	52942992	G	C	18	55275761	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.11993357660845E-4	0.028
18	52942992	G	T	18	55275761	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00362634737556233	0.1
18	52942993	A	C	18	55275762	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.205244922353349	0.472
18	52942993	A	G	18	55275762	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0424675862988117	0.214
18	52942993	A	T	18	55275762	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.21375674131739	0.538
18	52942994	C	A	18	55275763	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0042691083692039	0.05
18	52942994	C	G	18	55275763	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00769606894389792	0.058
18	52942994	C	T	18	55275763	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0506265212983916	0.21
18	52942995	A	C	18	55275764	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.41496857810595E-4	0.182
18	52942995	A	G	18	55275764	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.16314502420304E-4	0.034
18	52942995	A	T	18	55275764	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998414669870345	0.88
18	52946774	C	A	18	55279543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.90152412744522E-4	0.034
18	52946774	C	G	18	55279543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.51694357154867E-4	0.018
18	52946774	C	T	18	55279543	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.72067257739507E-4	0.02
18	52946775	A	C	18	55279544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.98561944552076E-4	0.032
18	52946775	A	G	18	55279544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.87492138430343E-4	0.028
18	52946775	A	T	18	55279544	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.52960061164823E-4	0.02
18	52946776	T	A	18	55279545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.35376361893542E-5	0.006
18	52946776	T	C	18	55279545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.33235487938911E-5	0.006
18	52946776	T	G	18	55279545	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.70725044141658E-4	0.02
18	52946777	C	A	18	55279546	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.985195712273117	0.546
18	52946777	C	G	18	55279546	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.908048146725793	0.614
18	52946777	C	T	18	55279546	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.987620407512407	0.698
18	52946778	T	A	18	55279547	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.990628121090425	0.814
18	52946778	T	C	18	55279547	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.989977919511348	0.732
18	52946778	T	G	18	55279547	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.963440350512769	0.74
18	52946779	T	A	18	55279548	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998212095469075	0.932
18	52946779	T	C	18	55279548	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.965940824432541	0.602
18	52946779	T	G	18	55279548	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998391692237513	0.968
18	52946780	A	C	18	55279549	y	y	splicing	TCF4(NM_001243226:exon11:c.961+2T>G;NM_001243230:exon9:c.649+2T>G;NM_001243234:exon3:c.175+2T>G;NM_001243232:exon6:c.442+2T>G;NM_001243236:exon3:c.175+2T>G;NM_001083962:exon10:c.655+2T>G;NM_003199:exon10:c.655+2T>G;NM_001243235:exon3:c.175+2T>G;NM_001243233:exon6:c.265+2T>G;NM_001243231:exon8:c.529+2T>G;NM_001243228:exon10:c.673+2T>G;NM_001243227:exon9:c.583+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon10:c.655+2T>G;ENST00000356073:exon10:c.655+2T>G;ENST00000568673:exon9:c.583+2T>G;ENST00000543082:exon8:c.529+2T>G;ENST00000457482:exon3:c.175+2T>G;ENST00000540999:exon9:c.583+2T>G;ENST00000537578:exon9:c.583+2T>G;ENST00000564999:exon10:c.655+2T>G;ENST00000568740:exon9:c.580+2T>G;ENST00000537856:exon5:c.265+2T>G;ENST00000544241:exon6:c.442+2T>G;ENST00000561992:exon6:c.265+2T>G;ENST00000561831:exon3:c.175+2T>G;ENST00000565018:exon10:c.655+2T>G;ENST00000566279:exon8:c.475+2T>G;ENST00000566286:exon9:c.649+2T>G;ENST00000567880:exon7:c.475+2T>G;ENST00000564228:exon6:c.442+2T>G;ENST00000570287:exon3:c.175+2T>G;ENST00000398339:exon11:c.961+2T>G;ENST00000564403:exon10:c.673+2T>G;ENST00000570177:exon5:c.265+2T>G;ENST00000569012:exon5:c.265+2T>G;ENST00000566514:exon9:c.583+2T>G;ENST00000568169:exon9:c.667+2T>G;ENST00000562607:exon5:c.265+2T>G;ENST00000568186:exon5:c.265+2T>G;ENST00000562638:exon5:c.265+2T>G;ENST00000566777:exon6:c.265+2T>G;ENST00000565908:exon9:c.583+2T>G)	.	.	0.999988247793601	0.93
18	52946780	A	G	18	55279549	y	y	splicing	TCF4(NM_001243226:exon11:c.961+2T>C;NM_001243230:exon9:c.649+2T>C;NM_001243234:exon3:c.175+2T>C;NM_001243232:exon6:c.442+2T>C;NM_001243236:exon3:c.175+2T>C;NM_001083962:exon10:c.655+2T>C;NM_003199:exon10:c.655+2T>C;NM_001243235:exon3:c.175+2T>C;NM_001243233:exon6:c.265+2T>C;NM_001243231:exon8:c.529+2T>C;NM_001243228:exon10:c.673+2T>C;NM_001243227:exon9:c.583+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon10:c.655+2T>C;ENST00000356073:exon10:c.655+2T>C;ENST00000568673:exon9:c.583+2T>C;ENST00000543082:exon8:c.529+2T>C;ENST00000457482:exon3:c.175+2T>C;ENST00000540999:exon9:c.583+2T>C;ENST00000537578:exon9:c.583+2T>C;ENST00000564999:exon10:c.655+2T>C;ENST00000568740:exon9:c.580+2T>C;ENST00000537856:exon5:c.265+2T>C;ENST00000544241:exon6:c.442+2T>C;ENST00000561992:exon6:c.265+2T>C;ENST00000561831:exon3:c.175+2T>C;ENST00000565018:exon10:c.655+2T>C;ENST00000566279:exon8:c.475+2T>C;ENST00000566286:exon9:c.649+2T>C;ENST00000567880:exon7:c.475+2T>C;ENST00000564228:exon6:c.442+2T>C;ENST00000570287:exon3:c.175+2T>C;ENST00000398339:exon11:c.961+2T>C;ENST00000564403:exon10:c.673+2T>C;ENST00000570177:exon5:c.265+2T>C;ENST00000569012:exon5:c.265+2T>C;ENST00000566514:exon9:c.583+2T>C;ENST00000568169:exon9:c.667+2T>C;ENST00000562607:exon5:c.265+2T>C;ENST00000568186:exon5:c.265+2T>C;ENST00000562638:exon5:c.265+2T>C;ENST00000566777:exon6:c.265+2T>C;ENST00000565908:exon9:c.583+2T>C)	.	.	0.995320650369382	0.708
18	52946780	A	T	18	55279549	y	y	splicing	TCF4(NM_001243226:exon11:c.961+2T>A;NM_001243230:exon9:c.649+2T>A;NM_001243234:exon3:c.175+2T>A;NM_001243232:exon6:c.442+2T>A;NM_001243236:exon3:c.175+2T>A;NM_001083962:exon10:c.655+2T>A;NM_003199:exon10:c.655+2T>A;NM_001243235:exon3:c.175+2T>A;NM_001243233:exon6:c.265+2T>A;NM_001243231:exon8:c.529+2T>A;NM_001243228:exon10:c.673+2T>A;NM_001243227:exon9:c.583+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon10:c.655+2T>A;ENST00000356073:exon10:c.655+2T>A;ENST00000568673:exon9:c.583+2T>A;ENST00000543082:exon8:c.529+2T>A;ENST00000457482:exon3:c.175+2T>A;ENST00000540999:exon9:c.583+2T>A;ENST00000537578:exon9:c.583+2T>A;ENST00000564999:exon10:c.655+2T>A;ENST00000568740:exon9:c.580+2T>A;ENST00000537856:exon5:c.265+2T>A;ENST00000544241:exon6:c.442+2T>A;ENST00000561992:exon6:c.265+2T>A;ENST00000561831:exon3:c.175+2T>A;ENST00000565018:exon10:c.655+2T>A;ENST00000566279:exon8:c.475+2T>A;ENST00000566286:exon9:c.649+2T>A;ENST00000567880:exon7:c.475+2T>A;ENST00000564228:exon6:c.442+2T>A;ENST00000570287:exon3:c.175+2T>A;ENST00000398339:exon11:c.961+2T>A;ENST00000564403:exon10:c.673+2T>A;ENST00000570177:exon5:c.265+2T>A;ENST00000569012:exon5:c.265+2T>A;ENST00000566514:exon9:c.583+2T>A;ENST00000568169:exon9:c.667+2T>A;ENST00000562607:exon5:c.265+2T>A;ENST00000568186:exon5:c.265+2T>A;ENST00000562638:exon5:c.265+2T>A;ENST00000566777:exon6:c.265+2T>A;ENST00000565908:exon9:c.583+2T>A)	.	.	0.999988247793601	0.93
18	52946781	C	A	18	55279550	y	y	splicing	TCF4(NM_001243226:exon11:c.961+1G>T;NM_001243230:exon9:c.649+1G>T;NM_001243234:exon3:c.175+1G>T;NM_001243232:exon6:c.442+1G>T;NM_001243236:exon3:c.175+1G>T;NM_001083962:exon10:c.655+1G>T;NM_003199:exon10:c.655+1G>T;NM_001243235:exon3:c.175+1G>T;NM_001243233:exon6:c.265+1G>T;NM_001243231:exon8:c.529+1G>T;NM_001243228:exon10:c.673+1G>T;NM_001243227:exon9:c.583+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon10:c.655+1G>T;ENST00000356073:exon10:c.655+1G>T;ENST00000568673:exon9:c.583+1G>T;ENST00000543082:exon8:c.529+1G>T;ENST00000457482:exon3:c.175+1G>T;ENST00000540999:exon9:c.583+1G>T;ENST00000537578:exon9:c.583+1G>T;ENST00000564999:exon10:c.655+1G>T;ENST00000568740:exon9:c.580+1G>T;ENST00000537856:exon5:c.265+1G>T;ENST00000544241:exon6:c.442+1G>T;ENST00000561992:exon6:c.265+1G>T;ENST00000561831:exon3:c.175+1G>T;ENST00000565018:exon10:c.655+1G>T;ENST00000566279:exon8:c.475+1G>T;ENST00000566286:exon9:c.649+1G>T;ENST00000567880:exon7:c.475+1G>T;ENST00000564228:exon6:c.442+1G>T;ENST00000570287:exon3:c.175+1G>T;ENST00000398339:exon11:c.961+1G>T;ENST00000564403:exon10:c.673+1G>T;ENST00000570177:exon5:c.265+1G>T;ENST00000569012:exon5:c.265+1G>T;ENST00000566514:exon9:c.583+1G>T;ENST00000568169:exon9:c.667+1G>T;ENST00000562607:exon5:c.265+1G>T;ENST00000568186:exon5:c.265+1G>T;ENST00000562638:exon5:c.265+1G>T;ENST00000566777:exon6:c.265+1G>T;ENST00000565908:exon9:c.583+1G>T)	.	.	0.999990361384395	0.938
18	52946781	C	G	18	55279550	y	y	splicing	TCF4(NM_001243226:exon11:c.961+1G>C;NM_001243230:exon9:c.649+1G>C;NM_001243234:exon3:c.175+1G>C;NM_001243232:exon6:c.442+1G>C;NM_001243236:exon3:c.175+1G>C;NM_001083962:exon10:c.655+1G>C;NM_003199:exon10:c.655+1G>C;NM_001243235:exon3:c.175+1G>C;NM_001243233:exon6:c.265+1G>C;NM_001243231:exon8:c.529+1G>C;NM_001243228:exon10:c.673+1G>C;NM_001243227:exon9:c.583+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon10:c.655+1G>C;ENST00000356073:exon10:c.655+1G>C;ENST00000568673:exon9:c.583+1G>C;ENST00000543082:exon8:c.529+1G>C;ENST00000457482:exon3:c.175+1G>C;ENST00000540999:exon9:c.583+1G>C;ENST00000537578:exon9:c.583+1G>C;ENST00000564999:exon10:c.655+1G>C;ENST00000568740:exon9:c.580+1G>C;ENST00000537856:exon5:c.265+1G>C;ENST00000544241:exon6:c.442+1G>C;ENST00000561992:exon6:c.265+1G>C;ENST00000561831:exon3:c.175+1G>C;ENST00000565018:exon10:c.655+1G>C;ENST00000566279:exon8:c.475+1G>C;ENST00000566286:exon9:c.649+1G>C;ENST00000567880:exon7:c.475+1G>C;ENST00000564228:exon6:c.442+1G>C;ENST00000570287:exon3:c.175+1G>C;ENST00000398339:exon11:c.961+1G>C;ENST00000564403:exon10:c.673+1G>C;ENST00000570177:exon5:c.265+1G>C;ENST00000569012:exon5:c.265+1G>C;ENST00000566514:exon9:c.583+1G>C;ENST00000568169:exon9:c.667+1G>C;ENST00000562607:exon5:c.265+1G>C;ENST00000568186:exon5:c.265+1G>C;ENST00000562638:exon5:c.265+1G>C;ENST00000566777:exon6:c.265+1G>C;ENST00000565908:exon9:c.583+1G>C)	.	.	0.999990361384395	0.938
18	52946781	C	T	18	55279550	y	y	splicing	TCF4(NM_001243226:exon11:c.961+1G>A;NM_001243230:exon9:c.649+1G>A;NM_001243234:exon3:c.175+1G>A;NM_001243232:exon6:c.442+1G>A;NM_001243236:exon3:c.175+1G>A;NM_001083962:exon10:c.655+1G>A;NM_003199:exon10:c.655+1G>A;NM_001243235:exon3:c.175+1G>A;NM_001243233:exon6:c.265+1G>A;NM_001243231:exon8:c.529+1G>A;NM_001243228:exon10:c.673+1G>A;NM_001243227:exon9:c.583+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon10:c.655+1G>A;ENST00000356073:exon10:c.655+1G>A;ENST00000568673:exon9:c.583+1G>A;ENST00000543082:exon8:c.529+1G>A;ENST00000457482:exon3:c.175+1G>A;ENST00000540999:exon9:c.583+1G>A;ENST00000537578:exon9:c.583+1G>A;ENST00000564999:exon10:c.655+1G>A;ENST00000568740:exon9:c.580+1G>A;ENST00000537856:exon5:c.265+1G>A;ENST00000544241:exon6:c.442+1G>A;ENST00000561992:exon6:c.265+1G>A;ENST00000561831:exon3:c.175+1G>A;ENST00000565018:exon10:c.655+1G>A;ENST00000566279:exon8:c.475+1G>A;ENST00000566286:exon9:c.649+1G>A;ENST00000567880:exon7:c.475+1G>A;ENST00000564228:exon6:c.442+1G>A;ENST00000570287:exon3:c.175+1G>A;ENST00000398339:exon11:c.961+1G>A;ENST00000564403:exon10:c.673+1G>A;ENST00000570177:exon5:c.265+1G>A;ENST00000569012:exon5:c.265+1G>A;ENST00000566514:exon9:c.583+1G>A;ENST00000568169:exon9:c.667+1G>A;ENST00000562607:exon5:c.265+1G>A;ENST00000568186:exon5:c.265+1G>A;ENST00000562638:exon5:c.265+1G>A;ENST00000566777:exon6:c.265+1G>A;ENST00000565908:exon9:c.583+1G>A)	.	.	0.999990361384395	0.938
18	52946782	C	A	18	55279551	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon2:c.G175T:p.D59Y;TCF4:NM_001243235:exon2:c.G175T:p.D59Y;TCF4:NM_001243231:exon7:c.G529T:p.D177Y;TCF4:NM_003199:exon9:c.G655T:p.D219Y;TCF4:NM_001243230:exon8:c.G649T:p.D217Y;TCF4:NM_001243232:exon5:c.G442T:p.D148Y;TCF4:NM_001083962:exon9:c.G655T:p.D219Y;TCF4:NM_001243227:exon8:c.G583T:p.D195Y;TCF4:NM_001243234:exon2:c.G175T:p.D59Y;TCF4:NM_001243226:exon10:c.G961T:p.D321Y;TCF4:NM_001243228:exon9:c.G673T:p.D225Y;TCF4:NM_001243233:exon5:c.G265T:p.D89Y;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.G475T:p.D159Y;ENSG00000196628:ENST00000562638:exon4:c.G265T:p.D89Y;ENSG00000196628:ENST00000568169:exon8:c.G667T:p.D223Y;ENSG00000196628:ENST00000561831:exon2:c.G175T:p.D59Y;ENSG00000196628:ENST00000564999:exon9:c.G655T:p.D219Y;ENSG00000196628:ENST00000568740:exon8:c.G580T:p.D194Y;ENSG00000196628:ENST00000568186:exon4:c.G265T:p.D89Y;ENSG00000196628:ENST00000561992:exon5:c.G265T:p.D89Y;ENSG00000196628:ENST00000565018:exon9:c.G655T:p.D219Y;ENSG00000196628:ENST00000354452:exon9:c.G655T:p.D219Y;ENSG00000196628:ENST00000566286:exon8:c.G649T:p.D217Y;ENSG00000196628:ENST00000566514:exon8:c.G583T:p.D195Y;ENSG00000196628:ENST00000356073:exon9:c.G655T:p.D219Y;ENSG00000196628:ENST00000543082:exon7:c.G529T:p.D177Y;ENSG00000196628:ENST00000570287:exon2:c.G175T:p.D59Y;ENSG00000196628:ENST00000562607:exon4:c.G265T:p.D89Y;ENSG00000196628:ENST00000544241:exon5:c.G442T:p.D148Y;ENSG00000196628:ENST00000537578:exon8:c.G583T:p.D195Y;ENSG00000196628:ENST00000564403:exon9:c.G673T:p.D225Y;ENSG00000196628:ENST00000570177:exon4:c.G265T:p.D89Y;ENSG00000196628:ENST00000457482:exon2:c.G175T:p.D59Y;ENSG00000196628:ENST00000569012:exon4:c.G265T:p.D89Y;ENSG00000196628:ENST00000565908:exon8:c.G583T:p.D195Y;ENSG00000196628:ENST00000568673:exon8:c.G583T:p.D195Y;ENSG00000196628:ENST00000540999:exon8:c.G583T:p.D195Y;ENSG00000196628:ENST00000566777:exon5:c.G265T:p.D89Y;ENSG00000196628:ENST00000537856:exon4:c.G265T:p.D89Y;ENSG00000196628:ENST00000398339:exon10:c.G961T:p.D321Y;ENSG00000196628:ENST00000564228:exon5:c.G442T:p.D148Y;ENSG00000196628:ENST00000567880:exon6:c.G475T:p.D159Y;	0.999380893417441	0.954
18	52946782	C	G	18	55279551	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon2:c.G175C:p.D59H;TCF4:NM_001243235:exon2:c.G175C:p.D59H;TCF4:NM_001243231:exon7:c.G529C:p.D177H;TCF4:NM_003199:exon9:c.G655C:p.D219H;TCF4:NM_001243230:exon8:c.G649C:p.D217H;TCF4:NM_001243232:exon5:c.G442C:p.D148H;TCF4:NM_001083962:exon9:c.G655C:p.D219H;TCF4:NM_001243227:exon8:c.G583C:p.D195H;TCF4:NM_001243234:exon2:c.G175C:p.D59H;TCF4:NM_001243226:exon10:c.G961C:p.D321H;TCF4:NM_001243228:exon9:c.G673C:p.D225H;TCF4:NM_001243233:exon5:c.G265C:p.D89H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.G475C:p.D159H;ENSG00000196628:ENST00000562638:exon4:c.G265C:p.D89H;ENSG00000196628:ENST00000568169:exon8:c.G667C:p.D223H;ENSG00000196628:ENST00000561831:exon2:c.G175C:p.D59H;ENSG00000196628:ENST00000564999:exon9:c.G655C:p.D219H;ENSG00000196628:ENST00000568740:exon8:c.G580C:p.D194H;ENSG00000196628:ENST00000568186:exon4:c.G265C:p.D89H;ENSG00000196628:ENST00000561992:exon5:c.G265C:p.D89H;ENSG00000196628:ENST00000565018:exon9:c.G655C:p.D219H;ENSG00000196628:ENST00000354452:exon9:c.G655C:p.D219H;ENSG00000196628:ENST00000566286:exon8:c.G649C:p.D217H;ENSG00000196628:ENST00000566514:exon8:c.G583C:p.D195H;ENSG00000196628:ENST00000356073:exon9:c.G655C:p.D219H;ENSG00000196628:ENST00000543082:exon7:c.G529C:p.D177H;ENSG00000196628:ENST00000570287:exon2:c.G175C:p.D59H;ENSG00000196628:ENST00000562607:exon4:c.G265C:p.D89H;ENSG00000196628:ENST00000544241:exon5:c.G442C:p.D148H;ENSG00000196628:ENST00000537578:exon8:c.G583C:p.D195H;ENSG00000196628:ENST00000564403:exon9:c.G673C:p.D225H;ENSG00000196628:ENST00000570177:exon4:c.G265C:p.D89H;ENSG00000196628:ENST00000457482:exon2:c.G175C:p.D59H;ENSG00000196628:ENST00000569012:exon4:c.G265C:p.D89H;ENSG00000196628:ENST00000565908:exon8:c.G583C:p.D195H;ENSG00000196628:ENST00000568673:exon8:c.G583C:p.D195H;ENSG00000196628:ENST00000540999:exon8:c.G583C:p.D195H;ENSG00000196628:ENST00000566777:exon5:c.G265C:p.D89H;ENSG00000196628:ENST00000537856:exon4:c.G265C:p.D89H;ENSG00000196628:ENST00000398339:exon10:c.G961C:p.D321H;ENSG00000196628:ENST00000564228:exon5:c.G442C:p.D148H;ENSG00000196628:ENST00000567880:exon6:c.G475C:p.D159H;	0.999810676464581	0.974
18	52946782	C	T	18	55279551	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon2:c.G175A:p.D59N;TCF4:NM_001243235:exon2:c.G175A:p.D59N;TCF4:NM_001243231:exon7:c.G529A:p.D177N;TCF4:NM_003199:exon9:c.G655A:p.D219N;TCF4:NM_001243230:exon8:c.G649A:p.D217N;TCF4:NM_001243232:exon5:c.G442A:p.D148N;TCF4:NM_001083962:exon9:c.G655A:p.D219N;TCF4:NM_001243227:exon8:c.G583A:p.D195N;TCF4:NM_001243234:exon2:c.G175A:p.D59N;TCF4:NM_001243226:exon10:c.G961A:p.D321N;TCF4:NM_001243228:exon9:c.G673A:p.D225N;TCF4:NM_001243233:exon5:c.G265A:p.D89N;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.G475A:p.D159N;ENSG00000196628:ENST00000562638:exon4:c.G265A:p.D89N;ENSG00000196628:ENST00000568169:exon8:c.G667A:p.D223N;ENSG00000196628:ENST00000561831:exon2:c.G175A:p.D59N;ENSG00000196628:ENST00000564999:exon9:c.G655A:p.D219N;ENSG00000196628:ENST00000568740:exon8:c.G580A:p.D194N;ENSG00000196628:ENST00000568186:exon4:c.G265A:p.D89N;ENSG00000196628:ENST00000561992:exon5:c.G265A:p.D89N;ENSG00000196628:ENST00000565018:exon9:c.G655A:p.D219N;ENSG00000196628:ENST00000354452:exon9:c.G655A:p.D219N;ENSG00000196628:ENST00000566286:exon8:c.G649A:p.D217N;ENSG00000196628:ENST00000566514:exon8:c.G583A:p.D195N;ENSG00000196628:ENST00000356073:exon9:c.G655A:p.D219N;ENSG00000196628:ENST00000543082:exon7:c.G529A:p.D177N;ENSG00000196628:ENST00000570287:exon2:c.G175A:p.D59N;ENSG00000196628:ENST00000562607:exon4:c.G265A:p.D89N;ENSG00000196628:ENST00000544241:exon5:c.G442A:p.D148N;ENSG00000196628:ENST00000537578:exon8:c.G583A:p.D195N;ENSG00000196628:ENST00000564403:exon9:c.G673A:p.D225N;ENSG00000196628:ENST00000570177:exon4:c.G265A:p.D89N;ENSG00000196628:ENST00000457482:exon2:c.G175A:p.D59N;ENSG00000196628:ENST00000569012:exon4:c.G265A:p.D89N;ENSG00000196628:ENST00000565908:exon8:c.G583A:p.D195N;ENSG00000196628:ENST00000568673:exon8:c.G583A:p.D195N;ENSG00000196628:ENST00000540999:exon8:c.G583A:p.D195N;ENSG00000196628:ENST00000566777:exon5:c.G265A:p.D89N;ENSG00000196628:ENST00000537856:exon4:c.G265A:p.D89N;ENSG00000196628:ENST00000398339:exon10:c.G961A:p.D321N;ENSG00000196628:ENST00000564228:exon5:c.G442A:p.D148N;ENSG00000196628:ENST00000567880:exon6:c.G475A:p.D159N;	0.999599943342127	0.98
18	52946783	T	A	18	55279552	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon2:c.A174T:p.Q58H;TCF4:NM_001243235:exon2:c.A174T:p.Q58H;TCF4:NM_001243231:exon7:c.A528T:p.Q176H;TCF4:NM_003199:exon9:c.A654T:p.Q218H;TCF4:NM_001243230:exon8:c.A648T:p.Q216H;TCF4:NM_001243232:exon5:c.A441T:p.Q147H;TCF4:NM_001083962:exon9:c.A654T:p.Q218H;TCF4:NM_001243227:exon8:c.A582T:p.Q194H;TCF4:NM_001243234:exon2:c.A174T:p.Q58H;TCF4:NM_001243226:exon10:c.A960T:p.Q320H;TCF4:NM_001243228:exon9:c.A672T:p.Q224H;TCF4:NM_001243233:exon5:c.A264T:p.Q88H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.A474T:p.Q158H;ENSG00000196628:ENST00000562638:exon4:c.A264T:p.Q88H;ENSG00000196628:ENST00000568169:exon8:c.A666T:p.Q222H;ENSG00000196628:ENST00000561831:exon2:c.A174T:p.Q58H;ENSG00000196628:ENST00000564999:exon9:c.A654T:p.Q218H;ENSG00000196628:ENST00000568740:exon8:c.A579T:p.Q193H;ENSG00000196628:ENST00000568186:exon4:c.A264T:p.Q88H;ENSG00000196628:ENST00000561992:exon5:c.A264T:p.Q88H;ENSG00000196628:ENST00000565018:exon9:c.A654T:p.Q218H;ENSG00000196628:ENST00000354452:exon9:c.A654T:p.Q218H;ENSG00000196628:ENST00000566286:exon8:c.A648T:p.Q216H;ENSG00000196628:ENST00000566514:exon8:c.A582T:p.Q194H;ENSG00000196628:ENST00000356073:exon9:c.A654T:p.Q218H;ENSG00000196628:ENST00000543082:exon7:c.A528T:p.Q176H;ENSG00000196628:ENST00000570287:exon2:c.A174T:p.Q58H;ENSG00000196628:ENST00000562607:exon4:c.A264T:p.Q88H;ENSG00000196628:ENST00000544241:exon5:c.A441T:p.Q147H;ENSG00000196628:ENST00000537578:exon8:c.A582T:p.Q194H;ENSG00000196628:ENST00000564403:exon9:c.A672T:p.Q224H;ENSG00000196628:ENST00000570177:exon4:c.A264T:p.Q88H;ENSG00000196628:ENST00000457482:exon2:c.A174T:p.Q58H;ENSG00000196628:ENST00000569012:exon4:c.A264T:p.Q88H;ENSG00000196628:ENST00000565908:exon8:c.A582T:p.Q194H;ENSG00000196628:ENST00000568673:exon8:c.A582T:p.Q194H;ENSG00000196628:ENST00000540999:exon8:c.A582T:p.Q194H;ENSG00000196628:ENST00000566777:exon5:c.A264T:p.Q88H;ENSG00000196628:ENST00000537856:exon4:c.A264T:p.Q88H;ENSG00000196628:ENST00000398339:exon10:c.A960T:p.Q320H;ENSG00000196628:ENST00000564228:exon5:c.A441T:p.Q147H;ENSG00000196628:ENST00000567880:exon6:c.A474T:p.Q158H;	0.532221397917524	0.546
18	52946783	T	C	18	55279552	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon2:c.A174G:p.Q58Q;TCF4:NM_001243235:exon2:c.A174G:p.Q58Q;TCF4:NM_001243231:exon7:c.A528G:p.Q176Q;TCF4:NM_003199:exon9:c.A654G:p.Q218Q;TCF4:NM_001243230:exon8:c.A648G:p.Q216Q;TCF4:NM_001243232:exon5:c.A441G:p.Q147Q;TCF4:NM_001083962:exon9:c.A654G:p.Q218Q;TCF4:NM_001243227:exon8:c.A582G:p.Q194Q;TCF4:NM_001243234:exon2:c.A174G:p.Q58Q;TCF4:NM_001243226:exon10:c.A960G:p.Q320Q;TCF4:NM_001243228:exon9:c.A672G:p.Q224Q;TCF4:NM_001243233:exon5:c.A264G:p.Q88Q;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.A474G:p.Q158Q;ENSG00000196628:ENST00000562638:exon4:c.A264G:p.Q88Q;ENSG00000196628:ENST00000568169:exon8:c.A666G:p.Q222Q;ENSG00000196628:ENST00000561831:exon2:c.A174G:p.Q58Q;ENSG00000196628:ENST00000564999:exon9:c.A654G:p.Q218Q;ENSG00000196628:ENST00000568740:exon8:c.A579G:p.Q193Q;ENSG00000196628:ENST00000568186:exon4:c.A264G:p.Q88Q;ENSG00000196628:ENST00000561992:exon5:c.A264G:p.Q88Q;ENSG00000196628:ENST00000565018:exon9:c.A654G:p.Q218Q;ENSG00000196628:ENST00000354452:exon9:c.A654G:p.Q218Q;ENSG00000196628:ENST00000566286:exon8:c.A648G:p.Q216Q;ENSG00000196628:ENST00000566514:exon8:c.A582G:p.Q194Q;ENSG00000196628:ENST00000356073:exon9:c.A654G:p.Q218Q;ENSG00000196628:ENST00000543082:exon7:c.A528G:p.Q176Q;ENSG00000196628:ENST00000570287:exon2:c.A174G:p.Q58Q;ENSG00000196628:ENST00000562607:exon4:c.A264G:p.Q88Q;ENSG00000196628:ENST00000544241:exon5:c.A441G:p.Q147Q;ENSG00000196628:ENST00000537578:exon8:c.A582G:p.Q194Q;ENSG00000196628:ENST00000564403:exon9:c.A672G:p.Q224Q;ENSG00000196628:ENST00000570177:exon4:c.A264G:p.Q88Q;ENSG00000196628:ENST00000457482:exon2:c.A174G:p.Q58Q;ENSG00000196628:ENST00000569012:exon4:c.A264G:p.Q88Q;ENSG00000196628:ENST00000565908:exon8:c.A582G:p.Q194Q;ENSG00000196628:ENST00000568673:exon8:c.A582G:p.Q194Q;ENSG00000196628:ENST00000540999:exon8:c.A582G:p.Q194Q;ENSG00000196628:ENST00000566777:exon5:c.A264G:p.Q88Q;ENSG00000196628:ENST00000537856:exon4:c.A264G:p.Q88Q;ENSG00000196628:ENST00000398339:exon10:c.A960G:p.Q320Q;ENSG00000196628:ENST00000564228:exon5:c.A441G:p.Q147Q;ENSG00000196628:ENST00000567880:exon6:c.A474G:p.Q158Q;	0.29659320318249	0.502
18	52946783	T	G	18	55279552	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon2:c.A174C:p.Q58H;TCF4:NM_001243235:exon2:c.A174C:p.Q58H;TCF4:NM_001243231:exon7:c.A528C:p.Q176H;TCF4:NM_003199:exon9:c.A654C:p.Q218H;TCF4:NM_001243230:exon8:c.A648C:p.Q216H;TCF4:NM_001243232:exon5:c.A441C:p.Q147H;TCF4:NM_001083962:exon9:c.A654C:p.Q218H;TCF4:NM_001243227:exon8:c.A582C:p.Q194H;TCF4:NM_001243234:exon2:c.A174C:p.Q58H;TCF4:NM_001243226:exon10:c.A960C:p.Q320H;TCF4:NM_001243228:exon9:c.A672C:p.Q224H;TCF4:NM_001243233:exon5:c.A264C:p.Q88H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.A474C:p.Q158H;ENSG00000196628:ENST00000562638:exon4:c.A264C:p.Q88H;ENSG00000196628:ENST00000568169:exon8:c.A666C:p.Q222H;ENSG00000196628:ENST00000561831:exon2:c.A174C:p.Q58H;ENSG00000196628:ENST00000564999:exon9:c.A654C:p.Q218H;ENSG00000196628:ENST00000568740:exon8:c.A579C:p.Q193H;ENSG00000196628:ENST00000568186:exon4:c.A264C:p.Q88H;ENSG00000196628:ENST00000561992:exon5:c.A264C:p.Q88H;ENSG00000196628:ENST00000565018:exon9:c.A654C:p.Q218H;ENSG00000196628:ENST00000354452:exon9:c.A654C:p.Q218H;ENSG00000196628:ENST00000566286:exon8:c.A648C:p.Q216H;ENSG00000196628:ENST00000566514:exon8:c.A582C:p.Q194H;ENSG00000196628:ENST00000356073:exon9:c.A654C:p.Q218H;ENSG00000196628:ENST00000543082:exon7:c.A528C:p.Q176H;ENSG00000196628:ENST00000570287:exon2:c.A174C:p.Q58H;ENSG00000196628:ENST00000562607:exon4:c.A264C:p.Q88H;ENSG00000196628:ENST00000544241:exon5:c.A441C:p.Q147H;ENSG00000196628:ENST00000537578:exon8:c.A582C:p.Q194H;ENSG00000196628:ENST00000564403:exon9:c.A672C:p.Q224H;ENSG00000196628:ENST00000570177:exon4:c.A264C:p.Q88H;ENSG00000196628:ENST00000457482:exon2:c.A174C:p.Q58H;ENSG00000196628:ENST00000569012:exon4:c.A264C:p.Q88H;ENSG00000196628:ENST00000565908:exon8:c.A582C:p.Q194H;ENSG00000196628:ENST00000568673:exon8:c.A582C:p.Q194H;ENSG00000196628:ENST00000540999:exon8:c.A582C:p.Q194H;ENSG00000196628:ENST00000566777:exon5:c.A264C:p.Q88H;ENSG00000196628:ENST00000537856:exon4:c.A264C:p.Q88H;ENSG00000196628:ENST00000398339:exon10:c.A960C:p.Q320H;ENSG00000196628:ENST00000564228:exon5:c.A441C:p.Q147H;ENSG00000196628:ENST00000567880:exon6:c.A474C:p.Q158H;	0.542893351464258	0.688
18	52946784	T	A	18	55279553	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon2:c.A173T:p.Q58L;TCF4:NM_001243235:exon2:c.A173T:p.Q58L;TCF4:NM_001243231:exon7:c.A527T:p.Q176L;TCF4:NM_003199:exon9:c.A653T:p.Q218L;TCF4:NM_001243230:exon8:c.A647T:p.Q216L;TCF4:NM_001243232:exon5:c.A440T:p.Q147L;TCF4:NM_001083962:exon9:c.A653T:p.Q218L;TCF4:NM_001243227:exon8:c.A581T:p.Q194L;TCF4:NM_001243234:exon2:c.A173T:p.Q58L;TCF4:NM_001243226:exon10:c.A959T:p.Q320L;TCF4:NM_001243228:exon9:c.A671T:p.Q224L;TCF4:NM_001243233:exon5:c.A263T:p.Q88L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.A473T:p.Q158L;ENSG00000196628:ENST00000562638:exon4:c.A263T:p.Q88L;ENSG00000196628:ENST00000568169:exon8:c.A665T:p.Q222L;ENSG00000196628:ENST00000561831:exon2:c.A173T:p.Q58L;ENSG00000196628:ENST00000564999:exon9:c.A653T:p.Q218L;ENSG00000196628:ENST00000568740:exon8:c.A578T:p.Q193L;ENSG00000196628:ENST00000568186:exon4:c.A263T:p.Q88L;ENSG00000196628:ENST00000561992:exon5:c.A263T:p.Q88L;ENSG00000196628:ENST00000565018:exon9:c.A653T:p.Q218L;ENSG00000196628:ENST00000354452:exon9:c.A653T:p.Q218L;ENSG00000196628:ENST00000566286:exon8:c.A647T:p.Q216L;ENSG00000196628:ENST00000566514:exon8:c.A581T:p.Q194L;ENSG00000196628:ENST00000356073:exon9:c.A653T:p.Q218L;ENSG00000196628:ENST00000543082:exon7:c.A527T:p.Q176L;ENSG00000196628:ENST00000570287:exon2:c.A173T:p.Q58L;ENSG00000196628:ENST00000562607:exon4:c.A263T:p.Q88L;ENSG00000196628:ENST00000544241:exon5:c.A440T:p.Q147L;ENSG00000196628:ENST00000537578:exon8:c.A581T:p.Q194L;ENSG00000196628:ENST00000564403:exon9:c.A671T:p.Q224L;ENSG00000196628:ENST00000570177:exon4:c.A263T:p.Q88L;ENSG00000196628:ENST00000457482:exon2:c.A173T:p.Q58L;ENSG00000196628:ENST00000569012:exon4:c.A263T:p.Q88L;ENSG00000196628:ENST00000565908:exon8:c.A581T:p.Q194L;ENSG00000196628:ENST00000568673:exon8:c.A581T:p.Q194L;ENSG00000196628:ENST00000540999:exon8:c.A581T:p.Q194L;ENSG00000196628:ENST00000566777:exon5:c.A263T:p.Q88L;ENSG00000196628:ENST00000537856:exon4:c.A263T:p.Q88L;ENSG00000196628:ENST00000398339:exon10:c.A959T:p.Q320L;ENSG00000196628:ENST00000564228:exon5:c.A440T:p.Q147L;ENSG00000196628:ENST00000567880:exon6:c.A473T:p.Q158L;	0.948065533790291	0.6
18	52946784	T	C	18	55279553	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon2:c.A173G:p.Q58R;TCF4:NM_001243235:exon2:c.A173G:p.Q58R;TCF4:NM_001243231:exon7:c.A527G:p.Q176R;TCF4:NM_003199:exon9:c.A653G:p.Q218R;TCF4:NM_001243230:exon8:c.A647G:p.Q216R;TCF4:NM_001243232:exon5:c.A440G:p.Q147R;TCF4:NM_001083962:exon9:c.A653G:p.Q218R;TCF4:NM_001243227:exon8:c.A581G:p.Q194R;TCF4:NM_001243234:exon2:c.A173G:p.Q58R;TCF4:NM_001243226:exon10:c.A959G:p.Q320R;TCF4:NM_001243228:exon9:c.A671G:p.Q224R;TCF4:NM_001243233:exon5:c.A263G:p.Q88R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.A473G:p.Q158R;ENSG00000196628:ENST00000562638:exon4:c.A263G:p.Q88R;ENSG00000196628:ENST00000568169:exon8:c.A665G:p.Q222R;ENSG00000196628:ENST00000561831:exon2:c.A173G:p.Q58R;ENSG00000196628:ENST00000564999:exon9:c.A653G:p.Q218R;ENSG00000196628:ENST00000568740:exon8:c.A578G:p.Q193R;ENSG00000196628:ENST00000568186:exon4:c.A263G:p.Q88R;ENSG00000196628:ENST00000561992:exon5:c.A263G:p.Q88R;ENSG00000196628:ENST00000565018:exon9:c.A653G:p.Q218R;ENSG00000196628:ENST00000354452:exon9:c.A653G:p.Q218R;ENSG00000196628:ENST00000566286:exon8:c.A647G:p.Q216R;ENSG00000196628:ENST00000566514:exon8:c.A581G:p.Q194R;ENSG00000196628:ENST00000356073:exon9:c.A653G:p.Q218R;ENSG00000196628:ENST00000543082:exon7:c.A527G:p.Q176R;ENSG00000196628:ENST00000570287:exon2:c.A173G:p.Q58R;ENSG00000196628:ENST00000562607:exon4:c.A263G:p.Q88R;ENSG00000196628:ENST00000544241:exon5:c.A440G:p.Q147R;ENSG00000196628:ENST00000537578:exon8:c.A581G:p.Q194R;ENSG00000196628:ENST00000564403:exon9:c.A671G:p.Q224R;ENSG00000196628:ENST00000570177:exon4:c.A263G:p.Q88R;ENSG00000196628:ENST00000457482:exon2:c.A173G:p.Q58R;ENSG00000196628:ENST00000569012:exon4:c.A263G:p.Q88R;ENSG00000196628:ENST00000565908:exon8:c.A581G:p.Q194R;ENSG00000196628:ENST00000568673:exon8:c.A581G:p.Q194R;ENSG00000196628:ENST00000540999:exon8:c.A581G:p.Q194R;ENSG00000196628:ENST00000566777:exon5:c.A263G:p.Q88R;ENSG00000196628:ENST00000537856:exon4:c.A263G:p.Q88R;ENSG00000196628:ENST00000398339:exon10:c.A959G:p.Q320R;ENSG00000196628:ENST00000564228:exon5:c.A440G:p.Q147R;ENSG00000196628:ENST00000567880:exon6:c.A473G:p.Q158R;	0.366117030264349	0.416
18	52946784	T	G	18	55279553	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon2:c.A173C:p.Q58P;TCF4:NM_001243235:exon2:c.A173C:p.Q58P;TCF4:NM_001243231:exon7:c.A527C:p.Q176P;TCF4:NM_003199:exon9:c.A653C:p.Q218P;TCF4:NM_001243230:exon8:c.A647C:p.Q216P;TCF4:NM_001243232:exon5:c.A440C:p.Q147P;TCF4:NM_001083962:exon9:c.A653C:p.Q218P;TCF4:NM_001243227:exon8:c.A581C:p.Q194P;TCF4:NM_001243234:exon2:c.A173C:p.Q58P;TCF4:NM_001243226:exon10:c.A959C:p.Q320P;TCF4:NM_001243228:exon9:c.A671C:p.Q224P;TCF4:NM_001243233:exon5:c.A263C:p.Q88P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon7:c.A473C:p.Q158P;ENSG00000196628:ENST00000562638:exon4:c.A263C:p.Q88P;ENSG00000196628:ENST00000568169:exon8:c.A665C:p.Q222P;ENSG00000196628:ENST00000561831:exon2:c.A173C:p.Q58P;ENSG00000196628:ENST00000564999:exon9:c.A653C:p.Q218P;ENSG00000196628:ENST00000568740:exon8:c.A578C:p.Q193P;ENSG00000196628:ENST00000568186:exon4:c.A263C:p.Q88P;ENSG00000196628:ENST00000561992:exon5:c.A263C:p.Q88P;ENSG00000196628:ENST00000565018:exon9:c.A653C:p.Q218P;ENSG00000196628:ENST00000354452:exon9:c.A653C:p.Q218P;ENSG00000196628:ENST00000566286:exon8:c.A647C:p.Q216P;ENSG00000196628:ENST00000566514:exon8:c.A581C:p.Q194P;ENSG00000196628:ENST00000356073:exon9:c.A653C:p.Q218P;ENSG00000196628:ENST00000543082:exon7:c.A527C:p.Q176P;ENSG00000196628:ENST00000570287:exon2:c.A173C:p.Q58P;ENSG00000196628:ENST00000562607:exon4:c.A263C:p.Q88P;ENSG00000196628:ENST00000544241:exon5:c.A440C:p.Q147P;ENSG00000196628:ENST00000537578:exon8:c.A581C:p.Q194P;ENSG00000196628:ENST00000564403:exon9:c.A671C:p.Q224P;ENSG00000196628:ENST00000570177:exon4:c.A263C:p.Q88P;ENSG00000196628:ENST00000457482:exon2:c.A173C:p.Q58P;ENSG00000196628:ENST00000569012:exon4:c.A263C:p.Q88P;ENSG00000196628:ENST00000565908:exon8:c.A581C:p.Q194P;ENSG00000196628:ENST00000568673:exon8:c.A581C:p.Q194P;ENSG00000196628:ENST00000540999:exon8:c.A581C:p.Q194P;ENSG00000196628:ENST00000566777:exon5:c.A263C:p.Q88P;ENSG00000196628:ENST00000537856:exon4:c.A263C:p.Q88P;ENSG00000196628:ENST00000398339:exon10:c.A959C:p.Q320P;ENSG00000196628:ENST00000564228:exon5:c.A440C:p.Q147P;ENSG00000196628:ENST00000567880:exon6:c.A473C:p.Q158P;	0.00553783195604085	0.034
18	52946904	A	C	18	55279673	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243228:exon9:c.T551G:p.L184W;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000564403:exon9:c.T551G:p.L184W;	3.34378792167192E-5	0.066
18	52946904	A	G	18	55279673	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243228:exon9:c.T551C:p.L184S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000564403:exon9:c.T551C:p.L184S;	4.87927617352647E-5	0.008
18	52946904	A	T	18	55279673	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243228:exon9:c.T551A:p.L184X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000564403:exon9:c.T551A:p.L184X;	0.00135035734192674	0.386
18	52946905	A	C	18	55279674	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243228:exon9:c.T550G:p.L184V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000564403:exon9:c.T550G:p.L184V;	3.54299807662448E-5	0.0
18	52946905	A	G	18	55279674	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243228:exon9:c.T550C:p.L184L;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000564403:exon9:c.T550C:p.L184L;	6.55989938170922E-5	0.022
18	52946905	A	T	18	55279674	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243228:exon9:c.T550A:p.L184M;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000564403:exon9:c.T550A:p.L184M;	1.78768468595541E-4	0.004
18	52946906	C	A	18	55279675	y	y	splicing	TCF4(NM_001243228:exon10:c.550-1G>T)	.	.	splicing	ENSG00000196628(ENST00000564403:exon10:c.550-1G>T)	.	.	4.30871500512943E-5	0.0
18	52946906	C	G	18	55279675	y	y	splicing	TCF4(NM_001243228:exon10:c.550-1G>C)	.	.	splicing	ENSG00000196628(ENST00000564403:exon10:c.550-1G>C)	.	.	2.07293279910092E-5	0.0
18	52946906	C	T	18	55279675	y	y	splicing	TCF4(NM_001243228:exon10:c.550-1G>A)	.	.	splicing	ENSG00000196628(ENST00000564403:exon10:c.550-1G>A)	.	.	6.35428655471156E-5	0.0
18	52946907	T	A	18	55279676	y	y	splicing	TCF4(NM_001243228:exon10:c.550-2A>T)	.	.	splicing	ENSG00000196628(ENST00000564403:exon10:c.550-2A>T)	.	.	3.17485684775099E-5	0.0
18	52946907	T	C	18	55279676	y	y	splicing	TCF4(NM_001243228:exon10:c.550-2A>G)	.	.	splicing	ENSG00000196628(ENST00000564403:exon10:c.550-2A>G)	.	.	4.70111563436126E-5	0.0
18	52946907	T	G	18	55279676	y	y	splicing	TCF4(NM_001243228:exon10:c.550-2A>C)	.	.	splicing	ENSG00000196628(ENST00000564403:exon10:c.550-2A>C)	.	.	3.35553209214991E-5	0.002
18	52946908	G	A	18	55279677	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.6888051343952E-5	0.002
18	52946908	G	C	18	55279677	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.6888051343952E-5	0.002
18	52946908	G	T	18	55279677	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.6888051343952E-5	0.002
18	52946909	A	C	18	55279678	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00151307991612789	0.008
18	52946909	A	G	18	55279678	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00151307991612789	0.008
18	52946909	A	T	18	55279678	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00175164445969076	0.012
18	52946910	G	A	18	55279679	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.14155790924668E-5	0.012
18	52946910	G	C	18	55279679	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.99839321085983E-5	0.012
18	52946910	G	T	18	55279679	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.14155790924668E-5	0.012
18	52946911	T	A	18	55279680	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.38731564659595E-5	0.002
18	52946911	T	C	18	55279680	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.38731564659595E-5	0.002
18	52946911	T	G	18	55279680	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.38731564659595E-5	0.002
18	52946912	T	A	18	55279681	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.24975915077222E-5	0.0
18	52946912	T	C	18	55279681	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.1020973109669E-5	0.0
18	52946912	T	G	18	55279681	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.1020973109669E-5	0.0
18	52946913	T	A	18	55279682	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.11657407965104E-4	0.006
18	52946913	T	C	18	55279682	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.11657407965104E-4	0.006
18	52946913	T	G	18	55279682	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.11657407965104E-4	0.006
18	52946914	T	A	18	55279683	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.69439264402225E-5	0.0
18	52946914	T	C	18	55279683	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.69439264402225E-5	0.0
18	52946914	T	G	18	55279683	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.69439264402225E-5	0.0
18	52946915	G	A	18	55279684	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.01915415094021E-4	0.022
18	52946915	G	C	18	55279684	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.22509695417391E-5	0.002
18	52946915	G	T	18	55279684	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.22509695417391E-5	0.002
18	52946916	C	A	18	55279685	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00506755359669277	0.044
18	52946916	C	G	18	55279685	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00506755359669277	0.048
18	52946916	C	T	18	55279685	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00626987229595653	0.046
18	52946917	T	A	18	55279686	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.00961143325455E-4	0.006
18	52946917	T	C	18	55279686	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.74088084155096E-5	0.004
18	52946917	T	G	18	55279686	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.74088084155096E-5	0.004
18	52969639	G	A	18	55302408	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0055608710731827	0.096
18	52969639	G	C	18	55302408	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0055608710731827	0.046
18	52969639	G	T	18	55302408	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0055608710731827	0.072
18	52969640	A	C	18	55302409	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00370843760143015	0.088
18	52969640	A	G	18	55302409	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00370843760143015	0.09
18	52969640	A	T	18	55302409	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0069180409540431	0.086
18	52969641	C	A	18	55302410	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.923645538223766	0.682
18	52969641	C	G	18	55302410	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.866017182811418	0.706
18	52969641	C	T	18	55302410	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.923645538223766	0.716
18	52969642	C	A	18	55302411	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.923645538223766	0.682
18	52969642	C	G	18	55302411	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.920404914400224	0.694
18	52969642	C	T	18	55302411	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.923645538223766	0.716
18	52969643	T	A	18	55302412	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.546655131453844	0.61
18	52969643	T	C	18	55302412	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.4524414885925	0.49
18	52969643	T	G	18	55302412	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.4524414885925	0.492
18	52969644	T	A	18	55302413	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.841582523792526	0.75
18	52969644	T	C	18	55302413	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.674422720501338	0.662
18	52969644	T	G	18	55302413	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.674422720501338	0.662
18	52969645	A	C	18	55302414	y	y	splicing	TCF4(NM_001243236:exon2:c.69+2T>G)	.	.	splicing	ENSG00000196628(ENST00000561831:exon2:c.69+2T>G)	.	.	0.952641827265979	0.784
18	52969645	A	G	18	55302414	y	y	splicing	TCF4(NM_001243236:exon2:c.69+2T>C)	.	.	splicing	ENSG00000196628(ENST00000561831:exon2:c.69+2T>C)	.	.	0.952641827265979	0.782
18	52969645	A	T	18	55302414	y	y	splicing	TCF4(NM_001243236:exon2:c.69+2T>A)	.	.	splicing	ENSG00000196628(ENST00000561831:exon2:c.69+2T>A)	.	.	0.943420802424773	0.802
18	52969646	C	A	18	55302415	y	y	splicing	TCF4(NM_001243236:exon2:c.69+1G>T)	.	.	splicing	ENSG00000196628(ENST00000561831:exon2:c.69+1G>T)	.	.	0.45611331169849	0.592
18	52969646	C	G	18	55302415	y	y	splicing	TCF4(NM_001243236:exon2:c.69+1G>C)	.	.	splicing	ENSG00000196628(ENST00000561831:exon2:c.69+1G>C)	.	.	0.45611331169849	0.594
18	52969646	C	T	18	55302415	y	y	splicing	TCF4(NM_001243236:exon2:c.69+1G>A)	.	.	splicing	ENSG00000196628(ENST00000561831:exon2:c.69+1G>A)	.	.	0.45611331169849	0.59
18	52969647	C	A	18	55302416	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon1:c.G69T:p.E23D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000561831:exon1:c.G69T:p.E23D;	0.993733916693694	0.866
18	52969647	C	G	18	55302416	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon1:c.G69C:p.E23D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000561831:exon1:c.G69C:p.E23D;	0.993733916693694	0.866
18	52969647	C	T	18	55302416	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243236:exon1:c.G69A:p.E23E;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000561831:exon1:c.G69A:p.E23E;	0.972710711965371	0.838
18	52969648	T	A	18	55302417	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon1:c.A68T:p.E23V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000561831:exon1:c.A68T:p.E23V;	0.92961721136914	0.784
18	52969648	T	C	18	55302417	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon1:c.A68G:p.E23G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000561831:exon1:c.A68G:p.E23G;	0.92961721136914	0.784
18	52969648	T	G	18	55302417	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon1:c.A68C:p.E23A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000561831:exon1:c.A68C:p.E23A;	0.92961721136914	0.776
18	52969649	C	A	18	55302418	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243236:exon1:c.G67T:p.E23X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000561831:exon1:c.G67T:p.E23X;	0.083174638174529	0.382
18	52969649	C	G	18	55302418	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon1:c.G67C:p.E23Q;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000561831:exon1:c.G67C:p.E23Q;	0.00277574293554727	0.092
18	52969649	C	T	18	55302418	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243236:exon1:c.G67A:p.E23K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000561831:exon1:c.G67A:p.E23K;	0.0332034636429039	0.144
18	52988893	T	A	18	55321662	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.574421148523E-4	0.002
18	52988893	T	C	18	55321662	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.71464925181669E-4	0.004
18	52988893	T	G	18	55321662	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.71464925181669E-4	0.004
18	52988894	C	A	18	55321663	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.28677872108501E-4	0.01
18	52988894	C	G	18	55321663	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.19822057903476E-4	0.006
18	52988894	C	T	18	55321663	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.71819796559124E-4	0.006
18	52988895	G	A	18	55321664	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0106228908163107	0.02
18	52988895	G	C	18	55321664	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00951067369662903	0.016
18	52988895	G	T	18	55321664	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00951067369662903	0.014
18	52988896	C	A	18	55321665	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0188727900506883	0.028
18	52988896	C	G	18	55321665	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0181219021055777	0.022
18	52988896	C	T	18	55321665	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0188727900506883	0.026
18	52988897	T	A	18	55321666	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0142867290194178	0.048
18	52988897	T	C	18	55321666	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00681553971327817	0.04
18	52988897	T	G	18	55321666	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00681553971327817	0.04
18	52988898	T	A	18	55321667	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0038157514573872	0.04
18	52988898	T	C	18	55321667	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0038157514573872	0.028
18	52988898	T	G	18	55321667	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0038157514573872	0.03
18	52988899	A	C	18	55321668	y	y	splicing	TCF4(NM_001243234:exon2:c.69+2T>G;NM_001243235:exon2:c.69+2T>G)	.	.	splicing	ENSG00000196628(ENST00000457482:exon2:c.69+2T>G;ENST00000570287:exon2:c.69+2T>G)	.	.	0.563470955228994	0.74
18	52988899	A	G	18	55321668	y	y	splicing	TCF4(NM_001243234:exon2:c.69+2T>C;NM_001243235:exon2:c.69+2T>C)	.	.	splicing	ENSG00000196628(ENST00000457482:exon2:c.69+2T>C;ENST00000570287:exon2:c.69+2T>C)	.	.	0.563470955228994	0.74
18	52988899	A	T	18	55321668	y	y	splicing	TCF4(NM_001243234:exon2:c.69+2T>A;NM_001243235:exon2:c.69+2T>A)	.	.	splicing	ENSG00000196628(ENST00000457482:exon2:c.69+2T>A;ENST00000570287:exon2:c.69+2T>A)	.	.	0.563470955228994	0.752
18	52988900	C	A	18	55321669	y	y	splicing	TCF4(NM_001243234:exon2:c.69+1G>T;NM_001243235:exon2:c.69+1G>T)	.	.	splicing	ENSG00000196628(ENST00000457482:exon2:c.69+1G>T;ENST00000570287:exon2:c.69+1G>T)	.	.	0.987060107596735	0.844
18	52988900	C	G	18	55321669	y	y	splicing	TCF4(NM_001243234:exon2:c.69+1G>C;NM_001243235:exon2:c.69+1G>C)	.	.	splicing	ENSG00000196628(ENST00000457482:exon2:c.69+1G>C;ENST00000570287:exon2:c.69+1G>C)	.	.	0.987060107596735	0.844
18	52988900	C	T	18	55321669	y	y	splicing	TCF4(NM_001243234:exon2:c.69+1G>A;NM_001243235:exon2:c.69+1G>A)	.	.	splicing	ENSG00000196628(ENST00000457482:exon2:c.69+1G>A;ENST00000570287:exon2:c.69+1G>A)	.	.	0.987060107596735	0.84
18	52988901	C	A	18	55321670	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243235:exon1:c.G69T:p.A23A;TCF4:NM_001243234:exon1:c.G69T:p.A23A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.G69T:p.A23A;ENSG00000196628:ENST00000457482:exon1:c.G69T:p.A23A;	0.622877785345041	0.464
18	52988901	C	G	18	55321670	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243235:exon1:c.G69C:p.A23A;TCF4:NM_001243234:exon1:c.G69C:p.A23A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.G69C:p.A23A;ENSG00000196628:ENST00000457482:exon1:c.G69C:p.A23A;	0.622877785345041	0.328
18	52988901	C	T	18	55321670	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243235:exon1:c.G69A:p.A23A;TCF4:NM_001243234:exon1:c.G69A:p.A23A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.G69A:p.A23A;ENSG00000196628:ENST00000457482:exon1:c.G69A:p.A23A;	0.622877785345041	0.49
18	52988902	G	A	18	55321671	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243235:exon1:c.C68T:p.A23V;TCF4:NM_001243234:exon1:c.C68T:p.A23V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.C68T:p.A23V;ENSG00000196628:ENST00000457482:exon1:c.C68T:p.A23V;	0.987060107596735	0.844
18	52988902	G	C	18	55321671	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243235:exon1:c.C68G:p.A23G;TCF4:NM_001243234:exon1:c.C68G:p.A23G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.C68G:p.A23G;ENSG00000196628:ENST00000457482:exon1:c.C68G:p.A23G;	0.968435294511785	0.808
18	52988902	G	T	18	55321671	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243235:exon1:c.C68A:p.A23E;TCF4:NM_001243234:exon1:c.C68A:p.A23E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.C68A:p.A23E;ENSG00000196628:ENST00000457482:exon1:c.C68A:p.A23E;	0.9848354454112	0.828
18	52988903	C	A	18	55321672	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243235:exon1:c.G67T:p.A23S;TCF4:NM_001243234:exon1:c.G67T:p.A23S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.G67T:p.A23S;ENSG00000196628:ENST00000457482:exon1:c.G67T:p.A23S;	8.91285852394238E-4	0.02
18	52988903	C	G	18	55321672	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243235:exon1:c.G67C:p.A23P;TCF4:NM_001243234:exon1:c.G67C:p.A23P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.G67C:p.A23P;ENSG00000196628:ENST00000457482:exon1:c.G67C:p.A23P;	0.938862782799694	0.758
18	52988903	C	T	18	55321672	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243235:exon1:c.G67A:p.A23T;TCF4:NM_001243234:exon1:c.G67A:p.A23T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000570287:exon1:c.G67A:p.A23T;ENSG00000196628:ENST00000457482:exon1:c.G67A:p.A23T;	0.968435294511785	0.812
18	53017582	G	A	18	55350351	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0117884396176746	0.04
18	53017582	G	C	18	55350351	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0126367778123228	0.062
18	53017582	G	T	18	55350351	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0154347130309324	0.072
18	53017583	T	A	18	55350352	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00380240783380206	0.0
18	53017583	T	C	18	55350352	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00326534068591455	0.002
18	53017583	T	G	18	55350352	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0039033733810822	0.002
18	53017584	A	C	18	55350353	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996755639565851	0.888
18	53017584	A	G	18	55350353	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996772124877216	0.918
18	53017584	A	T	18	55350353	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996490989476754	0.71
18	53017585	C	A	18	55350354	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999961683219096	0.982
18	53017585	C	G	18	55350354	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999972511134408	0.962
18	53017585	C	T	18	55350354	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999972255323498	0.998
18	53017586	T	A	18	55350355	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998931175308135	0.93
18	53017586	T	C	18	55350355	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998906680249217	0.976
18	53017586	T	G	18	55350355	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999341773091987	0.9
18	53017587	T	A	18	55350356	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999691499608444	0.994
18	53017587	T	C	18	55350356	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.978534630260874	0.426
18	53017587	T	G	18	55350356	y	n	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999691499608444	0.96
18	53017588	A	C	18	55350357	y	n	splicing	TCF4(NM_001243226:exon10:c.855+2T>G;NM_001243230:exon8:c.543+2T>G;NM_001243232:exon5:c.336+2T>G;NM_001083962:exon9:c.549+2T>G;NM_003199:exon9:c.549+2T>G;NM_001243233:exon5:c.159+2T>G;NM_001243231:exon7:c.423+2T>G;NM_001243228:exon9:c.549+2T>G;NM_001243227:exon8:c.477+2T>G)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon9:c.549+2T>G;ENST00000356073:exon9:c.549+2T>G;ENST00000568673:exon8:c.477+2T>G;ENST00000543082:exon7:c.423+2T>G;ENST00000540999:exon8:c.477+2T>G;ENST00000537578:exon8:c.477+2T>G;ENST00000564999:exon9:c.549+2T>G;ENST00000568740:exon8:c.474+2T>G;ENST00000537856:exon4:c.159+2T>G;ENST00000544241:exon5:c.336+2T>G;ENST00000561992:exon5:c.159+2T>G;ENST00000565018:exon9:c.549+2T>G;ENST00000566286:exon8:c.543+2T>G;ENST00000564228:exon5:c.336+2T>G;ENST00000398339:exon10:c.855+2T>G;ENST00000564403:exon9:c.549+2T>G;ENST00000570177:exon4:c.159+2T>G;ENST00000569012:exon4:c.159+2T>G;ENST00000566514:exon8:c.477+2T>G;ENST00000568169:exon8:c.561+2T>G;ENST00000562607:exon4:c.159+2T>G;ENST00000568186:exon4:c.159+2T>G;ENST00000562638:exon4:c.159+2T>G;ENST00000566777:exon5:c.159+2T>G;ENST00000565908:exon8:c.477+2T>G)	unknown	UNKNOWN	0.999992446697775	0.926
18	53017588	A	G	18	55350357	y	n	splicing	TCF4(NM_001243226:exon10:c.855+2T>C;NM_001243230:exon8:c.543+2T>C;NM_001243232:exon5:c.336+2T>C;NM_001083962:exon9:c.549+2T>C;NM_003199:exon9:c.549+2T>C;NM_001243233:exon5:c.159+2T>C;NM_001243231:exon7:c.423+2T>C;NM_001243228:exon9:c.549+2T>C;NM_001243227:exon8:c.477+2T>C)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon9:c.549+2T>C;ENST00000356073:exon9:c.549+2T>C;ENST00000568673:exon8:c.477+2T>C;ENST00000543082:exon7:c.423+2T>C;ENST00000540999:exon8:c.477+2T>C;ENST00000537578:exon8:c.477+2T>C;ENST00000564999:exon9:c.549+2T>C;ENST00000568740:exon8:c.474+2T>C;ENST00000537856:exon4:c.159+2T>C;ENST00000544241:exon5:c.336+2T>C;ENST00000561992:exon5:c.159+2T>C;ENST00000565018:exon9:c.549+2T>C;ENST00000566286:exon8:c.543+2T>C;ENST00000564228:exon5:c.336+2T>C;ENST00000398339:exon10:c.855+2T>C;ENST00000564403:exon9:c.549+2T>C;ENST00000570177:exon4:c.159+2T>C;ENST00000569012:exon4:c.159+2T>C;ENST00000566514:exon8:c.477+2T>C;ENST00000568169:exon8:c.561+2T>C;ENST00000562607:exon4:c.159+2T>C;ENST00000568186:exon4:c.159+2T>C;ENST00000562638:exon4:c.159+2T>C;ENST00000566777:exon5:c.159+2T>C;ENST00000565908:exon8:c.477+2T>C)	unknown	UNKNOWN	0.998853161294592	0.826
18	53017588	A	T	18	55350357	y	n	splicing	TCF4(NM_001243226:exon10:c.855+2T>A;NM_001243230:exon8:c.543+2T>A;NM_001243232:exon5:c.336+2T>A;NM_001083962:exon9:c.549+2T>A;NM_003199:exon9:c.549+2T>A;NM_001243233:exon5:c.159+2T>A;NM_001243231:exon7:c.423+2T>A;NM_001243228:exon9:c.549+2T>A;NM_001243227:exon8:c.477+2T>A)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon9:c.549+2T>A;ENST00000356073:exon9:c.549+2T>A;ENST00000568673:exon8:c.477+2T>A;ENST00000543082:exon7:c.423+2T>A;ENST00000540999:exon8:c.477+2T>A;ENST00000537578:exon8:c.477+2T>A;ENST00000564999:exon9:c.549+2T>A;ENST00000568740:exon8:c.474+2T>A;ENST00000537856:exon4:c.159+2T>A;ENST00000544241:exon5:c.336+2T>A;ENST00000561992:exon5:c.159+2T>A;ENST00000565018:exon9:c.549+2T>A;ENST00000566286:exon8:c.543+2T>A;ENST00000564228:exon5:c.336+2T>A;ENST00000398339:exon10:c.855+2T>A;ENST00000564403:exon9:c.549+2T>A;ENST00000570177:exon4:c.159+2T>A;ENST00000569012:exon4:c.159+2T>A;ENST00000566514:exon8:c.477+2T>A;ENST00000568169:exon8:c.561+2T>A;ENST00000562607:exon4:c.159+2T>A;ENST00000568186:exon4:c.159+2T>A;ENST00000562638:exon4:c.159+2T>A;ENST00000566777:exon5:c.159+2T>A;ENST00000565908:exon8:c.477+2T>A)	unknown	UNKNOWN	0.999992446697775	0.928
18	53017589	C	A	18	55350358	y	n	splicing	TCF4(NM_001243226:exon10:c.855+1G>T;NM_001243230:exon8:c.543+1G>T;NM_001243232:exon5:c.336+1G>T;NM_001083962:exon9:c.549+1G>T;NM_003199:exon9:c.549+1G>T;NM_001243233:exon5:c.159+1G>T;NM_001243231:exon7:c.423+1G>T;NM_001243228:exon9:c.549+1G>T;NM_001243227:exon8:c.477+1G>T)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon9:c.549+1G>T;ENST00000356073:exon9:c.549+1G>T;ENST00000568673:exon8:c.477+1G>T;ENST00000543082:exon7:c.423+1G>T;ENST00000540999:exon8:c.477+1G>T;ENST00000537578:exon8:c.477+1G>T;ENST00000564999:exon9:c.549+1G>T;ENST00000568740:exon8:c.474+1G>T;ENST00000537856:exon4:c.159+1G>T;ENST00000544241:exon5:c.336+1G>T;ENST00000561992:exon5:c.159+1G>T;ENST00000565018:exon9:c.549+1G>T;ENST00000566286:exon8:c.543+1G>T;ENST00000564228:exon5:c.336+1G>T;ENST00000398339:exon10:c.855+1G>T;ENST00000564403:exon9:c.549+1G>T;ENST00000570177:exon4:c.159+1G>T;ENST00000569012:exon4:c.159+1G>T;ENST00000566514:exon8:c.477+1G>T;ENST00000568169:exon8:c.561+1G>T;ENST00000562607:exon4:c.159+1G>T;ENST00000568186:exon4:c.159+1G>T;ENST00000562638:exon4:c.159+1G>T;ENST00000566777:exon5:c.159+1G>T;ENST00000565908:exon8:c.477+1G>T)	unknown	UNKNOWN	0.999988247793601	0.926
18	53017589	C	G	18	55350358	y	n	splicing	TCF4(NM_001243226:exon10:c.855+1G>C;NM_001243230:exon8:c.543+1G>C;NM_001243232:exon5:c.336+1G>C;NM_001083962:exon9:c.549+1G>C;NM_003199:exon9:c.549+1G>C;NM_001243233:exon5:c.159+1G>C;NM_001243231:exon7:c.423+1G>C;NM_001243228:exon9:c.549+1G>C;NM_001243227:exon8:c.477+1G>C)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon9:c.549+1G>C;ENST00000356073:exon9:c.549+1G>C;ENST00000568673:exon8:c.477+1G>C;ENST00000543082:exon7:c.423+1G>C;ENST00000540999:exon8:c.477+1G>C;ENST00000537578:exon8:c.477+1G>C;ENST00000564999:exon9:c.549+1G>C;ENST00000568740:exon8:c.474+1G>C;ENST00000537856:exon4:c.159+1G>C;ENST00000544241:exon5:c.336+1G>C;ENST00000561992:exon5:c.159+1G>C;ENST00000565018:exon9:c.549+1G>C;ENST00000566286:exon8:c.543+1G>C;ENST00000564228:exon5:c.336+1G>C;ENST00000398339:exon10:c.855+1G>C;ENST00000564403:exon9:c.549+1G>C;ENST00000570177:exon4:c.159+1G>C;ENST00000569012:exon4:c.159+1G>C;ENST00000566514:exon8:c.477+1G>C;ENST00000568169:exon8:c.561+1G>C;ENST00000562607:exon4:c.159+1G>C;ENST00000568186:exon4:c.159+1G>C;ENST00000562638:exon4:c.159+1G>C;ENST00000566777:exon5:c.159+1G>C;ENST00000565908:exon8:c.477+1G>C)	unknown	UNKNOWN	0.999988247793601	0.926
18	53017589	C	T	18	55350358	y	n	splicing	TCF4(NM_001243226:exon10:c.855+1G>A;NM_001243230:exon8:c.543+1G>A;NM_001243232:exon5:c.336+1G>A;NM_001083962:exon9:c.549+1G>A;NM_003199:exon9:c.549+1G>A;NM_001243233:exon5:c.159+1G>A;NM_001243231:exon7:c.423+1G>A;NM_001243228:exon9:c.549+1G>A;NM_001243227:exon8:c.477+1G>A)	.	.	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000354452:exon9:c.549+1G>A;ENST00000356073:exon9:c.549+1G>A;ENST00000568673:exon8:c.477+1G>A;ENST00000543082:exon7:c.423+1G>A;ENST00000540999:exon8:c.477+1G>A;ENST00000537578:exon8:c.477+1G>A;ENST00000564999:exon9:c.549+1G>A;ENST00000568740:exon8:c.474+1G>A;ENST00000537856:exon4:c.159+1G>A;ENST00000544241:exon5:c.336+1G>A;ENST00000561992:exon5:c.159+1G>A;ENST00000565018:exon9:c.549+1G>A;ENST00000566286:exon8:c.543+1G>A;ENST00000564228:exon5:c.336+1G>A;ENST00000398339:exon10:c.855+1G>A;ENST00000564403:exon9:c.549+1G>A;ENST00000570177:exon4:c.159+1G>A;ENST00000569012:exon4:c.159+1G>A;ENST00000566514:exon8:c.477+1G>A;ENST00000568169:exon8:c.561+1G>A;ENST00000562607:exon4:c.159+1G>A;ENST00000568186:exon4:c.159+1G>A;ENST00000562638:exon4:c.159+1G>A;ENST00000566777:exon5:c.159+1G>A;ENST00000565908:exon8:c.477+1G>A)	unknown	UNKNOWN	0.999988247793601	0.926
18	53017590	T	A	18	55350359	y	n	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon6:c.A423T:p.S141S;TCF4:NM_003199:exon8:c.A549T:p.S183S;TCF4:NM_001243230:exon7:c.A543T:p.S181S;TCF4:NM_001243232:exon4:c.A336T:p.S112S;TCF4:NM_001083962:exon8:c.A549T:p.S183S;TCF4:NM_001243227:exon7:c.A477T:p.S159S;TCF4:NM_001243226:exon9:c.A855T:p.S285S;TCF4:NM_001243228:exon8:c.A549T:p.S183S;TCF4:NM_001243233:exon4:c.A159T:p.S53S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.A159T:p.S53S;ENSG00000196628:ENST00000562638:exon3:c.A159T:p.S53S;ENSG00000196628:ENST00000590810:exon3:c.A159T:p.S53S;ENSG00000196628:ENST00000568169:exon7:c.A561T:p.S187S;ENSG00000196628:ENST00000564999:exon8:c.A549T:p.S183S;ENSG00000196628:ENST00000568740:exon7:c.A474T:p.S158S;ENSG00000196628:ENST00000568186:exon3:c.A159T:p.S53S;ENSG00000196628:ENST00000561992:exon4:c.A159T:p.S53S;ENSG00000196628:ENST00000565018:exon8:c.A549T:p.S183S;ENSG00000196628:ENST00000354452:exon8:c.A549T:p.S183S;ENSG00000196628:ENST00000566286:exon7:c.A543T:p.S181S;ENSG00000196628:ENST00000566514:exon7:c.A477T:p.S159S;ENSG00000196628:ENST00000356073:exon8:c.A549T:p.S183S;ENSG00000196628:ENST00000543082:exon6:c.A423T:p.S141S;ENSG00000196628:ENST00000562607:exon3:c.A159T:p.S53S;ENSG00000196628:ENST00000544241:exon4:c.A336T:p.S112S;ENSG00000196628:ENST00000537578:exon7:c.A477T:p.S159S;ENSG00000196628:ENST00000564403:exon8:c.A549T:p.S183S;ENSG00000196628:ENST00000570177:exon3:c.A159T:p.S53S;ENSG00000196628:ENST00000569012:exon3:c.A159T:p.S53S;ENSG00000196628:ENST00000565908:exon7:c.A477T:p.S159S;ENSG00000196628:ENST00000568673:exon7:c.A477T:p.S159S;ENSG00000196628:ENST00000540999:exon7:c.A477T:p.S159S;ENSG00000196628:ENST00000566777:exon4:c.A159T:p.S53S;ENSG00000196628:ENST00000537856:exon3:c.A159T:p.S53S;ENSG00000196628:ENST00000398339:exon9:c.A855T:p.S285S;ENSG00000196628:ENST00000564228:exon4:c.A336T:p.S112S;	0.318902765332102	0.414
18	53017590	T	C	18	55350359	y	n	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon6:c.A423G:p.S141S;TCF4:NM_003199:exon8:c.A549G:p.S183S;TCF4:NM_001243230:exon7:c.A543G:p.S181S;TCF4:NM_001243232:exon4:c.A336G:p.S112S;TCF4:NM_001083962:exon8:c.A549G:p.S183S;TCF4:NM_001243227:exon7:c.A477G:p.S159S;TCF4:NM_001243226:exon9:c.A855G:p.S285S;TCF4:NM_001243228:exon8:c.A549G:p.S183S;TCF4:NM_001243233:exon4:c.A159G:p.S53S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.A159G:p.S53S;ENSG00000196628:ENST00000562638:exon3:c.A159G:p.S53S;ENSG00000196628:ENST00000590810:exon3:c.A159G:p.S53S;ENSG00000196628:ENST00000568169:exon7:c.A561G:p.S187S;ENSG00000196628:ENST00000564999:exon8:c.A549G:p.S183S;ENSG00000196628:ENST00000568740:exon7:c.A474G:p.S158S;ENSG00000196628:ENST00000568186:exon3:c.A159G:p.S53S;ENSG00000196628:ENST00000561992:exon4:c.A159G:p.S53S;ENSG00000196628:ENST00000565018:exon8:c.A549G:p.S183S;ENSG00000196628:ENST00000354452:exon8:c.A549G:p.S183S;ENSG00000196628:ENST00000566286:exon7:c.A543G:p.S181S;ENSG00000196628:ENST00000566514:exon7:c.A477G:p.S159S;ENSG00000196628:ENST00000356073:exon8:c.A549G:p.S183S;ENSG00000196628:ENST00000543082:exon6:c.A423G:p.S141S;ENSG00000196628:ENST00000562607:exon3:c.A159G:p.S53S;ENSG00000196628:ENST00000544241:exon4:c.A336G:p.S112S;ENSG00000196628:ENST00000537578:exon7:c.A477G:p.S159S;ENSG00000196628:ENST00000564403:exon8:c.A549G:p.S183S;ENSG00000196628:ENST00000570177:exon3:c.A159G:p.S53S;ENSG00000196628:ENST00000569012:exon3:c.A159G:p.S53S;ENSG00000196628:ENST00000565908:exon7:c.A477G:p.S159S;ENSG00000196628:ENST00000568673:exon7:c.A477G:p.S159S;ENSG00000196628:ENST00000540999:exon7:c.A477G:p.S159S;ENSG00000196628:ENST00000566777:exon4:c.A159G:p.S53S;ENSG00000196628:ENST00000537856:exon3:c.A159G:p.S53S;ENSG00000196628:ENST00000398339:exon9:c.A855G:p.S285S;ENSG00000196628:ENST00000564228:exon4:c.A336G:p.S112S;	0.116347836537897	0.172
18	53017590	T	G	18	55350359	y	n	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon6:c.A423C:p.S141S;TCF4:NM_003199:exon8:c.A549C:p.S183S;TCF4:NM_001243230:exon7:c.A543C:p.S181S;TCF4:NM_001243232:exon4:c.A336C:p.S112S;TCF4:NM_001083962:exon8:c.A549C:p.S183S;TCF4:NM_001243227:exon7:c.A477C:p.S159S;TCF4:NM_001243226:exon9:c.A855C:p.S285S;TCF4:NM_001243228:exon8:c.A549C:p.S183S;TCF4:NM_001243233:exon4:c.A159C:p.S53S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.A159C:p.S53S;ENSG00000196628:ENST00000562638:exon3:c.A159C:p.S53S;ENSG00000196628:ENST00000590810:exon3:c.A159C:p.S53S;ENSG00000196628:ENST00000568169:exon7:c.A561C:p.S187S;ENSG00000196628:ENST00000564999:exon8:c.A549C:p.S183S;ENSG00000196628:ENST00000568740:exon7:c.A474C:p.S158S;ENSG00000196628:ENST00000568186:exon3:c.A159C:p.S53S;ENSG00000196628:ENST00000561992:exon4:c.A159C:p.S53S;ENSG00000196628:ENST00000565018:exon8:c.A549C:p.S183S;ENSG00000196628:ENST00000354452:exon8:c.A549C:p.S183S;ENSG00000196628:ENST00000566286:exon7:c.A543C:p.S181S;ENSG00000196628:ENST00000566514:exon7:c.A477C:p.S159S;ENSG00000196628:ENST00000356073:exon8:c.A549C:p.S183S;ENSG00000196628:ENST00000543082:exon6:c.A423C:p.S141S;ENSG00000196628:ENST00000562607:exon3:c.A159C:p.S53S;ENSG00000196628:ENST00000544241:exon4:c.A336C:p.S112S;ENSG00000196628:ENST00000537578:exon7:c.A477C:p.S159S;ENSG00000196628:ENST00000564403:exon8:c.A549C:p.S183S;ENSG00000196628:ENST00000570177:exon3:c.A159C:p.S53S;ENSG00000196628:ENST00000569012:exon3:c.A159C:p.S53S;ENSG00000196628:ENST00000565908:exon7:c.A477C:p.S159S;ENSG00000196628:ENST00000568673:exon7:c.A477C:p.S159S;ENSG00000196628:ENST00000540999:exon7:c.A477C:p.S159S;ENSG00000196628:ENST00000566777:exon4:c.A159C:p.S53S;ENSG00000196628:ENST00000537856:exon3:c.A159C:p.S53S;ENSG00000196628:ENST00000398339:exon9:c.A855C:p.S285S;ENSG00000196628:ENST00000564228:exon4:c.A336C:p.S112S;	0.512729854320942	0.596
18	53017591	G	A	18	55350360	y	n	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.C422T:p.S141L;TCF4:NM_003199:exon8:c.C548T:p.S183L;TCF4:NM_001243230:exon7:c.C542T:p.S181L;TCF4:NM_001243232:exon4:c.C335T:p.S112L;TCF4:NM_001083962:exon8:c.C548T:p.S183L;TCF4:NM_001243227:exon7:c.C476T:p.S159L;TCF4:NM_001243226:exon9:c.C854T:p.S285L;TCF4:NM_001243228:exon8:c.C548T:p.S183L;TCF4:NM_001243233:exon4:c.C158T:p.S53L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.C158T:p.S53L;ENSG00000196628:ENST00000562638:exon3:c.C158T:p.S53L;ENSG00000196628:ENST00000590810:exon3:c.C158T:p.S53L;ENSG00000196628:ENST00000568169:exon7:c.C560T:p.S187L;ENSG00000196628:ENST00000564999:exon8:c.C548T:p.S183L;ENSG00000196628:ENST00000568740:exon7:c.C473T:p.S158L;ENSG00000196628:ENST00000568186:exon3:c.C158T:p.S53L;ENSG00000196628:ENST00000561992:exon4:c.C158T:p.S53L;ENSG00000196628:ENST00000565018:exon8:c.C548T:p.S183L;ENSG00000196628:ENST00000354452:exon8:c.C548T:p.S183L;ENSG00000196628:ENST00000566286:exon7:c.C542T:p.S181L;ENSG00000196628:ENST00000566514:exon7:c.C476T:p.S159L;ENSG00000196628:ENST00000356073:exon8:c.C548T:p.S183L;ENSG00000196628:ENST00000543082:exon6:c.C422T:p.S141L;ENSG00000196628:ENST00000562607:exon3:c.C158T:p.S53L;ENSG00000196628:ENST00000544241:exon4:c.C335T:p.S112L;ENSG00000196628:ENST00000537578:exon7:c.C476T:p.S159L;ENSG00000196628:ENST00000564403:exon8:c.C548T:p.S183L;ENSG00000196628:ENST00000570177:exon3:c.C158T:p.S53L;ENSG00000196628:ENST00000569012:exon3:c.C158T:p.S53L;ENSG00000196628:ENST00000565908:exon7:c.C476T:p.S159L;ENSG00000196628:ENST00000568673:exon7:c.C476T:p.S159L;ENSG00000196628:ENST00000540999:exon7:c.C476T:p.S159L;ENSG00000196628:ENST00000566777:exon4:c.C158T:p.S53L;ENSG00000196628:ENST00000537856:exon3:c.C158T:p.S53L;ENSG00000196628:ENST00000398339:exon9:c.C854T:p.S285L;ENSG00000196628:ENST00000564228:exon4:c.C335T:p.S112L;	0.991280509634661	0.822
18	53017591	G	C	18	55350360	y	n	exonic	TCF4	stopgain SNV	TCF4:NM_001243231:exon6:c.C422G:p.S141X;TCF4:NM_003199:exon8:c.C548G:p.S183X;TCF4:NM_001243230:exon7:c.C542G:p.S181X;TCF4:NM_001243232:exon4:c.C335G:p.S112X;TCF4:NM_001083962:exon8:c.C548G:p.S183X;TCF4:NM_001243227:exon7:c.C476G:p.S159X;TCF4:NM_001243226:exon9:c.C854G:p.S285X;TCF4:NM_001243228:exon8:c.C548G:p.S183X;TCF4:NM_001243233:exon4:c.C158G:p.S53X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000562030:exon3:c.C158G:p.S53X;ENSG00000196628:ENST00000562638:exon3:c.C158G:p.S53X;ENSG00000196628:ENST00000590810:exon3:c.C158G:p.S53X;ENSG00000196628:ENST00000568169:exon7:c.C560G:p.S187X;ENSG00000196628:ENST00000564999:exon8:c.C548G:p.S183X;ENSG00000196628:ENST00000568740:exon7:c.C473G:p.S158X;ENSG00000196628:ENST00000568186:exon3:c.C158G:p.S53X;ENSG00000196628:ENST00000561992:exon4:c.C158G:p.S53X;ENSG00000196628:ENST00000565018:exon8:c.C548G:p.S183X;ENSG00000196628:ENST00000354452:exon8:c.C548G:p.S183X;ENSG00000196628:ENST00000566286:exon7:c.C542G:p.S181X;ENSG00000196628:ENST00000566514:exon7:c.C476G:p.S159X;ENSG00000196628:ENST00000356073:exon8:c.C548G:p.S183X;ENSG00000196628:ENST00000543082:exon6:c.C422G:p.S141X;ENSG00000196628:ENST00000562607:exon3:c.C158G:p.S53X;ENSG00000196628:ENST00000544241:exon4:c.C335G:p.S112X;ENSG00000196628:ENST00000537578:exon7:c.C476G:p.S159X;ENSG00000196628:ENST00000564403:exon8:c.C548G:p.S183X;ENSG00000196628:ENST00000570177:exon3:c.C158G:p.S53X;ENSG00000196628:ENST00000569012:exon3:c.C158G:p.S53X;ENSG00000196628:ENST00000565908:exon7:c.C476G:p.S159X;ENSG00000196628:ENST00000568673:exon7:c.C476G:p.S159X;ENSG00000196628:ENST00000540999:exon7:c.C476G:p.S159X;ENSG00000196628:ENST00000566777:exon4:c.C158G:p.S53X;ENSG00000196628:ENST00000537856:exon3:c.C158G:p.S53X;ENSG00000196628:ENST00000398339:exon9:c.C854G:p.S285X;ENSG00000196628:ENST00000564228:exon4:c.C335G:p.S112X;	0.977248857670885	0.81
18	53017591	G	T	18	55350360	y	n	exonic	TCF4	stopgain SNV	TCF4:NM_001243231:exon6:c.C422A:p.S141X;TCF4:NM_003199:exon8:c.C548A:p.S183X;TCF4:NM_001243230:exon7:c.C542A:p.S181X;TCF4:NM_001243232:exon4:c.C335A:p.S112X;TCF4:NM_001083962:exon8:c.C548A:p.S183X;TCF4:NM_001243227:exon7:c.C476A:p.S159X;TCF4:NM_001243226:exon9:c.C854A:p.S285X;TCF4:NM_001243228:exon8:c.C548A:p.S183X;TCF4:NM_001243233:exon4:c.C158A:p.S53X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000562030:exon3:c.C158A:p.S53X;ENSG00000196628:ENST00000562638:exon3:c.C158A:p.S53X;ENSG00000196628:ENST00000590810:exon3:c.C158A:p.S53X;ENSG00000196628:ENST00000568169:exon7:c.C560A:p.S187X;ENSG00000196628:ENST00000564999:exon8:c.C548A:p.S183X;ENSG00000196628:ENST00000568740:exon7:c.C473A:p.S158X;ENSG00000196628:ENST00000568186:exon3:c.C158A:p.S53X;ENSG00000196628:ENST00000561992:exon4:c.C158A:p.S53X;ENSG00000196628:ENST00000565018:exon8:c.C548A:p.S183X;ENSG00000196628:ENST00000354452:exon8:c.C548A:p.S183X;ENSG00000196628:ENST00000566286:exon7:c.C542A:p.S181X;ENSG00000196628:ENST00000566514:exon7:c.C476A:p.S159X;ENSG00000196628:ENST00000356073:exon8:c.C548A:p.S183X;ENSG00000196628:ENST00000543082:exon6:c.C422A:p.S141X;ENSG00000196628:ENST00000562607:exon3:c.C158A:p.S53X;ENSG00000196628:ENST00000544241:exon4:c.C335A:p.S112X;ENSG00000196628:ENST00000537578:exon7:c.C476A:p.S159X;ENSG00000196628:ENST00000564403:exon8:c.C548A:p.S183X;ENSG00000196628:ENST00000570177:exon3:c.C158A:p.S53X;ENSG00000196628:ENST00000569012:exon3:c.C158A:p.S53X;ENSG00000196628:ENST00000565908:exon7:c.C476A:p.S159X;ENSG00000196628:ENST00000568673:exon7:c.C476A:p.S159X;ENSG00000196628:ENST00000540999:exon7:c.C476A:p.S159X;ENSG00000196628:ENST00000566777:exon4:c.C158A:p.S53X;ENSG00000196628:ENST00000537856:exon3:c.C158A:p.S53X;ENSG00000196628:ENST00000398339:exon9:c.C854A:p.S285X;ENSG00000196628:ENST00000564228:exon4:c.C335A:p.S112X;	0.949041042519702	0.648
18	53017592	A	C	18	55350361	y	n	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.T421G:p.S141A;TCF4:NM_003199:exon8:c.T547G:p.S183A;TCF4:NM_001243230:exon7:c.T541G:p.S181A;TCF4:NM_001243232:exon4:c.T334G:p.S112A;TCF4:NM_001083962:exon8:c.T547G:p.S183A;TCF4:NM_001243227:exon7:c.T475G:p.S159A;TCF4:NM_001243226:exon9:c.T853G:p.S285A;TCF4:NM_001243228:exon8:c.T547G:p.S183A;TCF4:NM_001243233:exon4:c.T157G:p.S53A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.T157G:p.S53A;ENSG00000196628:ENST00000562638:exon3:c.T157G:p.S53A;ENSG00000196628:ENST00000590810:exon3:c.T157G:p.S53A;ENSG00000196628:ENST00000568169:exon7:c.T559G:p.S187A;ENSG00000196628:ENST00000564999:exon8:c.T547G:p.S183A;ENSG00000196628:ENST00000568740:exon7:c.T472G:p.S158A;ENSG00000196628:ENST00000568186:exon3:c.T157G:p.S53A;ENSG00000196628:ENST00000561992:exon4:c.T157G:p.S53A;ENSG00000196628:ENST00000565018:exon8:c.T547G:p.S183A;ENSG00000196628:ENST00000354452:exon8:c.T547G:p.S183A;ENSG00000196628:ENST00000566286:exon7:c.T541G:p.S181A;ENSG00000196628:ENST00000566514:exon7:c.T475G:p.S159A;ENSG00000196628:ENST00000356073:exon8:c.T547G:p.S183A;ENSG00000196628:ENST00000543082:exon6:c.T421G:p.S141A;ENSG00000196628:ENST00000562607:exon3:c.T157G:p.S53A;ENSG00000196628:ENST00000544241:exon4:c.T334G:p.S112A;ENSG00000196628:ENST00000537578:exon7:c.T475G:p.S159A;ENSG00000196628:ENST00000564403:exon8:c.T547G:p.S183A;ENSG00000196628:ENST00000570177:exon3:c.T157G:p.S53A;ENSG00000196628:ENST00000569012:exon3:c.T157G:p.S53A;ENSG00000196628:ENST00000565908:exon7:c.T475G:p.S159A;ENSG00000196628:ENST00000568673:exon7:c.T475G:p.S159A;ENSG00000196628:ENST00000540999:exon7:c.T475G:p.S159A;ENSG00000196628:ENST00000566777:exon4:c.T157G:p.S53A;ENSG00000196628:ENST00000537856:exon3:c.T157G:p.S53A;ENSG00000196628:ENST00000398339:exon9:c.T853G:p.S285A;ENSG00000196628:ENST00000564228:exon4:c.T334G:p.S112A;	0.679351409858474	0.684
18	53017592	A	G	18	55350361	y	n	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.T421C:p.S141P;TCF4:NM_003199:exon8:c.T547C:p.S183P;TCF4:NM_001243230:exon7:c.T541C:p.S181P;TCF4:NM_001243232:exon4:c.T334C:p.S112P;TCF4:NM_001083962:exon8:c.T547C:p.S183P;TCF4:NM_001243227:exon7:c.T475C:p.S159P;TCF4:NM_001243226:exon9:c.T853C:p.S285P;TCF4:NM_001243228:exon8:c.T547C:p.S183P;TCF4:NM_001243233:exon4:c.T157C:p.S53P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.T157C:p.S53P;ENSG00000196628:ENST00000562638:exon3:c.T157C:p.S53P;ENSG00000196628:ENST00000590810:exon3:c.T157C:p.S53P;ENSG00000196628:ENST00000568169:exon7:c.T559C:p.S187P;ENSG00000196628:ENST00000564999:exon8:c.T547C:p.S183P;ENSG00000196628:ENST00000568740:exon7:c.T472C:p.S158P;ENSG00000196628:ENST00000568186:exon3:c.T157C:p.S53P;ENSG00000196628:ENST00000561992:exon4:c.T157C:p.S53P;ENSG00000196628:ENST00000565018:exon8:c.T547C:p.S183P;ENSG00000196628:ENST00000354452:exon8:c.T547C:p.S183P;ENSG00000196628:ENST00000566286:exon7:c.T541C:p.S181P;ENSG00000196628:ENST00000566514:exon7:c.T475C:p.S159P;ENSG00000196628:ENST00000356073:exon8:c.T547C:p.S183P;ENSG00000196628:ENST00000543082:exon6:c.T421C:p.S141P;ENSG00000196628:ENST00000562607:exon3:c.T157C:p.S53P;ENSG00000196628:ENST00000544241:exon4:c.T334C:p.S112P;ENSG00000196628:ENST00000537578:exon7:c.T475C:p.S159P;ENSG00000196628:ENST00000564403:exon8:c.T547C:p.S183P;ENSG00000196628:ENST00000570177:exon3:c.T157C:p.S53P;ENSG00000196628:ENST00000569012:exon3:c.T157C:p.S53P;ENSG00000196628:ENST00000565908:exon7:c.T475C:p.S159P;ENSG00000196628:ENST00000568673:exon7:c.T475C:p.S159P;ENSG00000196628:ENST00000540999:exon7:c.T475C:p.S159P;ENSG00000196628:ENST00000566777:exon4:c.T157C:p.S53P;ENSG00000196628:ENST00000537856:exon3:c.T157C:p.S53P;ENSG00000196628:ENST00000398339:exon9:c.T853C:p.S285P;ENSG00000196628:ENST00000564228:exon4:c.T334C:p.S112P;	0.584775761677121	0.598
18	53017592	A	T	18	55350361	y	n	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.T421A:p.S141T;TCF4:NM_003199:exon8:c.T547A:p.S183T;TCF4:NM_001243230:exon7:c.T541A:p.S181T;TCF4:NM_001243232:exon4:c.T334A:p.S112T;TCF4:NM_001083962:exon8:c.T547A:p.S183T;TCF4:NM_001243227:exon7:c.T475A:p.S159T;TCF4:NM_001243226:exon9:c.T853A:p.S285T;TCF4:NM_001243228:exon8:c.T547A:p.S183T;TCF4:NM_001243233:exon4:c.T157A:p.S53T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.T157A:p.S53T;ENSG00000196628:ENST00000562638:exon3:c.T157A:p.S53T;ENSG00000196628:ENST00000590810:exon3:c.T157A:p.S53T;ENSG00000196628:ENST00000568169:exon7:c.T559A:p.S187T;ENSG00000196628:ENST00000564999:exon8:c.T547A:p.S183T;ENSG00000196628:ENST00000568740:exon7:c.T472A:p.S158T;ENSG00000196628:ENST00000568186:exon3:c.T157A:p.S53T;ENSG00000196628:ENST00000561992:exon4:c.T157A:p.S53T;ENSG00000196628:ENST00000565018:exon8:c.T547A:p.S183T;ENSG00000196628:ENST00000354452:exon8:c.T547A:p.S183T;ENSG00000196628:ENST00000566286:exon7:c.T541A:p.S181T;ENSG00000196628:ENST00000566514:exon7:c.T475A:p.S159T;ENSG00000196628:ENST00000356073:exon8:c.T547A:p.S183T;ENSG00000196628:ENST00000543082:exon6:c.T421A:p.S141T;ENSG00000196628:ENST00000562607:exon3:c.T157A:p.S53T;ENSG00000196628:ENST00000544241:exon4:c.T334A:p.S112T;ENSG00000196628:ENST00000537578:exon7:c.T475A:p.S159T;ENSG00000196628:ENST00000564403:exon8:c.T547A:p.S183T;ENSG00000196628:ENST00000570177:exon3:c.T157A:p.S53T;ENSG00000196628:ENST00000569012:exon3:c.T157A:p.S53T;ENSG00000196628:ENST00000565908:exon7:c.T475A:p.S159T;ENSG00000196628:ENST00000568673:exon7:c.T475A:p.S159T;ENSG00000196628:ENST00000540999:exon7:c.T475A:p.S159T;ENSG00000196628:ENST00000566777:exon4:c.T157A:p.S53T;ENSG00000196628:ENST00000537856:exon3:c.T157A:p.S53T;ENSG00000196628:ENST00000398339:exon9:c.T853A:p.S285T;ENSG00000196628:ENST00000564228:exon4:c.T334A:p.S112T;	0.53038144725106	0.616
18	53017638	C	A	18	55350407	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.G375T:p.E125D;TCF4:NM_003199:exon8:c.G501T:p.E167D;TCF4:NM_001243230:exon7:c.G495T:p.E165D;TCF4:NM_001243232:exon4:c.G288T:p.E96D;TCF4:NM_001083962:exon8:c.G501T:p.E167D;TCF4:NM_001243227:exon7:c.G429T:p.E143D;TCF4:NM_001243226:exon9:c.G807T:p.E269D;TCF4:NM_001243228:exon8:c.G501T:p.E167D;TCF4:NM_001243233:exon4:c.G111T:p.E37D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.G111T:p.E37D;ENSG00000196628:ENST00000562638:exon3:c.G111T:p.E37D;ENSG00000196628:ENST00000590810:exon3:c.G111T:p.E37D;ENSG00000196628:ENST00000568169:exon7:c.G513T:p.E171D;ENSG00000196628:ENST00000564999:exon8:c.G501T:p.E167D;ENSG00000196628:ENST00000568740:exon7:c.G426T:p.E142D;ENSG00000196628:ENST00000568186:exon3:c.G111T:p.E37D;ENSG00000196628:ENST00000561992:exon4:c.G111T:p.E37D;ENSG00000196628:ENST00000562512:exon4:c.G111T:p.E37D;ENSG00000196628:ENST00000565018:exon8:c.G501T:p.E167D;ENSG00000196628:ENST00000568147:exon7:c.G429T:p.E143D;ENSG00000196628:ENST00000354452:exon8:c.G501T:p.E167D;ENSG00000196628:ENST00000566286:exon7:c.G495T:p.E165D;ENSG00000196628:ENST00000566514:exon7:c.G429T:p.E143D;ENSG00000196628:ENST00000356073:exon8:c.G501T:p.E167D;ENSG00000196628:ENST00000543082:exon6:c.G375T:p.E125D;ENSG00000196628:ENST00000562607:exon3:c.G111T:p.E37D;ENSG00000196628:ENST00000544241:exon4:c.G288T:p.E96D;ENSG00000196628:ENST00000537578:exon7:c.G429T:p.E143D;ENSG00000196628:ENST00000563888:exon7:c.G429T:p.E143D;ENSG00000196628:ENST00000564403:exon8:c.G501T:p.E167D;ENSG00000196628:ENST00000570177:exon3:c.G111T:p.E37D;ENSG00000196628:ENST00000563824:exon6:c.G429T:p.E143D;ENSG00000196628:ENST00000569012:exon3:c.G111T:p.E37D;ENSG00000196628:ENST00000565908:exon7:c.G429T:p.E143D;ENSG00000196628:ENST00000568673:exon7:c.G429T:p.E143D;ENSG00000196628:ENST00000540999:exon7:c.G429T:p.E143D;ENSG00000196628:ENST00000566777:exon4:c.G111T:p.E37D;ENSG00000196628:ENST00000537856:exon3:c.G111T:p.E37D;ENSG00000196628:ENST00000398339:exon9:c.G807T:p.E269D;ENSG00000196628:ENST00000564228:exon4:c.G288T:p.E96D;	0.00125958865391595	0.052
18	53017638	C	G	18	55350407	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.G375C:p.E125D;TCF4:NM_003199:exon8:c.G501C:p.E167D;TCF4:NM_001243230:exon7:c.G495C:p.E165D;TCF4:NM_001243232:exon4:c.G288C:p.E96D;TCF4:NM_001083962:exon8:c.G501C:p.E167D;TCF4:NM_001243227:exon7:c.G429C:p.E143D;TCF4:NM_001243226:exon9:c.G807C:p.E269D;TCF4:NM_001243228:exon8:c.G501C:p.E167D;TCF4:NM_001243233:exon4:c.G111C:p.E37D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.G111C:p.E37D;ENSG00000196628:ENST00000562638:exon3:c.G111C:p.E37D;ENSG00000196628:ENST00000590810:exon3:c.G111C:p.E37D;ENSG00000196628:ENST00000568169:exon7:c.G513C:p.E171D;ENSG00000196628:ENST00000564999:exon8:c.G501C:p.E167D;ENSG00000196628:ENST00000568740:exon7:c.G426C:p.E142D;ENSG00000196628:ENST00000568186:exon3:c.G111C:p.E37D;ENSG00000196628:ENST00000561992:exon4:c.G111C:p.E37D;ENSG00000196628:ENST00000562512:exon4:c.G111C:p.E37D;ENSG00000196628:ENST00000565018:exon8:c.G501C:p.E167D;ENSG00000196628:ENST00000568147:exon7:c.G429C:p.E143D;ENSG00000196628:ENST00000354452:exon8:c.G501C:p.E167D;ENSG00000196628:ENST00000566286:exon7:c.G495C:p.E165D;ENSG00000196628:ENST00000566514:exon7:c.G429C:p.E143D;ENSG00000196628:ENST00000356073:exon8:c.G501C:p.E167D;ENSG00000196628:ENST00000543082:exon6:c.G375C:p.E125D;ENSG00000196628:ENST00000562607:exon3:c.G111C:p.E37D;ENSG00000196628:ENST00000544241:exon4:c.G288C:p.E96D;ENSG00000196628:ENST00000537578:exon7:c.G429C:p.E143D;ENSG00000196628:ENST00000563888:exon7:c.G429C:p.E143D;ENSG00000196628:ENST00000564403:exon8:c.G501C:p.E167D;ENSG00000196628:ENST00000570177:exon3:c.G111C:p.E37D;ENSG00000196628:ENST00000563824:exon6:c.G429C:p.E143D;ENSG00000196628:ENST00000569012:exon3:c.G111C:p.E37D;ENSG00000196628:ENST00000565908:exon7:c.G429C:p.E143D;ENSG00000196628:ENST00000568673:exon7:c.G429C:p.E143D;ENSG00000196628:ENST00000540999:exon7:c.G429C:p.E143D;ENSG00000196628:ENST00000566777:exon4:c.G111C:p.E37D;ENSG00000196628:ENST00000537856:exon3:c.G111C:p.E37D;ENSG00000196628:ENST00000398339:exon9:c.G807C:p.E269D;ENSG00000196628:ENST00000564228:exon4:c.G288C:p.E96D;	5.92650737120142E-4	0.036
18	53017638	C	T	18	55350407	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon6:c.G375A:p.E125E;TCF4:NM_003199:exon8:c.G501A:p.E167E;TCF4:NM_001243230:exon7:c.G495A:p.E165E;TCF4:NM_001243232:exon4:c.G288A:p.E96E;TCF4:NM_001083962:exon8:c.G501A:p.E167E;TCF4:NM_001243227:exon7:c.G429A:p.E143E;TCF4:NM_001243226:exon9:c.G807A:p.E269E;TCF4:NM_001243228:exon8:c.G501A:p.E167E;TCF4:NM_001243233:exon4:c.G111A:p.E37E;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.G111A:p.E37E;ENSG00000196628:ENST00000562638:exon3:c.G111A:p.E37E;ENSG00000196628:ENST00000590810:exon3:c.G111A:p.E37E;ENSG00000196628:ENST00000568169:exon7:c.G513A:p.E171E;ENSG00000196628:ENST00000564999:exon8:c.G501A:p.E167E;ENSG00000196628:ENST00000568740:exon7:c.G426A:p.E142E;ENSG00000196628:ENST00000568186:exon3:c.G111A:p.E37E;ENSG00000196628:ENST00000561992:exon4:c.G111A:p.E37E;ENSG00000196628:ENST00000562512:exon4:c.G111A:p.E37E;ENSG00000196628:ENST00000565018:exon8:c.G501A:p.E167E;ENSG00000196628:ENST00000568147:exon7:c.G429A:p.E143E;ENSG00000196628:ENST00000354452:exon8:c.G501A:p.E167E;ENSG00000196628:ENST00000566286:exon7:c.G495A:p.E165E;ENSG00000196628:ENST00000566514:exon7:c.G429A:p.E143E;ENSG00000196628:ENST00000356073:exon8:c.G501A:p.E167E;ENSG00000196628:ENST00000543082:exon6:c.G375A:p.E125E;ENSG00000196628:ENST00000562607:exon3:c.G111A:p.E37E;ENSG00000196628:ENST00000544241:exon4:c.G288A:p.E96E;ENSG00000196628:ENST00000537578:exon7:c.G429A:p.E143E;ENSG00000196628:ENST00000563888:exon7:c.G429A:p.E143E;ENSG00000196628:ENST00000564403:exon8:c.G501A:p.E167E;ENSG00000196628:ENST00000570177:exon3:c.G111A:p.E37E;ENSG00000196628:ENST00000563824:exon6:c.G429A:p.E143E;ENSG00000196628:ENST00000569012:exon3:c.G111A:p.E37E;ENSG00000196628:ENST00000565908:exon7:c.G429A:p.E143E;ENSG00000196628:ENST00000568673:exon7:c.G429A:p.E143E;ENSG00000196628:ENST00000540999:exon7:c.G429A:p.E143E;ENSG00000196628:ENST00000566777:exon4:c.G111A:p.E37E;ENSG00000196628:ENST00000537856:exon3:c.G111A:p.E37E;ENSG00000196628:ENST00000398339:exon9:c.G807A:p.E269E;ENSG00000196628:ENST00000564228:exon4:c.G288A:p.E96E;	0.0244854536829839	0.196
18	53017639	T	A	18	55350408	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.A374T:p.E125V;TCF4:NM_003199:exon8:c.A500T:p.E167V;TCF4:NM_001243230:exon7:c.A494T:p.E165V;TCF4:NM_001243232:exon4:c.A287T:p.E96V;TCF4:NM_001083962:exon8:c.A500T:p.E167V;TCF4:NM_001243227:exon7:c.A428T:p.E143V;TCF4:NM_001243226:exon9:c.A806T:p.E269V;TCF4:NM_001243228:exon8:c.A500T:p.E167V;TCF4:NM_001243233:exon4:c.A110T:p.E37V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.A110T:p.E37V;ENSG00000196628:ENST00000562638:exon3:c.A110T:p.E37V;ENSG00000196628:ENST00000590810:exon3:c.A110T:p.E37V;ENSG00000196628:ENST00000568169:exon7:c.A512T:p.E171V;ENSG00000196628:ENST00000564999:exon8:c.A500T:p.E167V;ENSG00000196628:ENST00000568740:exon7:c.A425T:p.E142V;ENSG00000196628:ENST00000568186:exon3:c.A110T:p.E37V;ENSG00000196628:ENST00000561992:exon4:c.A110T:p.E37V;ENSG00000196628:ENST00000562512:exon4:c.A110T:p.E37V;ENSG00000196628:ENST00000565018:exon8:c.A500T:p.E167V;ENSG00000196628:ENST00000568147:exon7:c.A428T:p.E143V;ENSG00000196628:ENST00000354452:exon8:c.A500T:p.E167V;ENSG00000196628:ENST00000566286:exon7:c.A494T:p.E165V;ENSG00000196628:ENST00000566514:exon7:c.A428T:p.E143V;ENSG00000196628:ENST00000356073:exon8:c.A500T:p.E167V;ENSG00000196628:ENST00000543082:exon6:c.A374T:p.E125V;ENSG00000196628:ENST00000562607:exon3:c.A110T:p.E37V;ENSG00000196628:ENST00000544241:exon4:c.A287T:p.E96V;ENSG00000196628:ENST00000537578:exon7:c.A428T:p.E143V;ENSG00000196628:ENST00000563888:exon7:c.A428T:p.E143V;ENSG00000196628:ENST00000564403:exon8:c.A500T:p.E167V;ENSG00000196628:ENST00000570177:exon3:c.A110T:p.E37V;ENSG00000196628:ENST00000563824:exon6:c.A428T:p.E143V;ENSG00000196628:ENST00000569012:exon3:c.A110T:p.E37V;ENSG00000196628:ENST00000565908:exon7:c.A428T:p.E143V;ENSG00000196628:ENST00000568673:exon7:c.A428T:p.E143V;ENSG00000196628:ENST00000540999:exon7:c.A428T:p.E143V;ENSG00000196628:ENST00000566777:exon4:c.A110T:p.E37V;ENSG00000196628:ENST00000537856:exon3:c.A110T:p.E37V;ENSG00000196628:ENST00000398339:exon9:c.A806T:p.E269V;ENSG00000196628:ENST00000564228:exon4:c.A287T:p.E96V;	0.175899855355958	0.376
18	53017639	T	C	18	55350408	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.A374G:p.E125G;TCF4:NM_003199:exon8:c.A500G:p.E167G;TCF4:NM_001243230:exon7:c.A494G:p.E165G;TCF4:NM_001243232:exon4:c.A287G:p.E96G;TCF4:NM_001083962:exon8:c.A500G:p.E167G;TCF4:NM_001243227:exon7:c.A428G:p.E143G;TCF4:NM_001243226:exon9:c.A806G:p.E269G;TCF4:NM_001243228:exon8:c.A500G:p.E167G;TCF4:NM_001243233:exon4:c.A110G:p.E37G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.A110G:p.E37G;ENSG00000196628:ENST00000562638:exon3:c.A110G:p.E37G;ENSG00000196628:ENST00000590810:exon3:c.A110G:p.E37G;ENSG00000196628:ENST00000568169:exon7:c.A512G:p.E171G;ENSG00000196628:ENST00000564999:exon8:c.A500G:p.E167G;ENSG00000196628:ENST00000568740:exon7:c.A425G:p.E142G;ENSG00000196628:ENST00000568186:exon3:c.A110G:p.E37G;ENSG00000196628:ENST00000561992:exon4:c.A110G:p.E37G;ENSG00000196628:ENST00000562512:exon4:c.A110G:p.E37G;ENSG00000196628:ENST00000565018:exon8:c.A500G:p.E167G;ENSG00000196628:ENST00000568147:exon7:c.A428G:p.E143G;ENSG00000196628:ENST00000354452:exon8:c.A500G:p.E167G;ENSG00000196628:ENST00000566286:exon7:c.A494G:p.E165G;ENSG00000196628:ENST00000566514:exon7:c.A428G:p.E143G;ENSG00000196628:ENST00000356073:exon8:c.A500G:p.E167G;ENSG00000196628:ENST00000543082:exon6:c.A374G:p.E125G;ENSG00000196628:ENST00000562607:exon3:c.A110G:p.E37G;ENSG00000196628:ENST00000544241:exon4:c.A287G:p.E96G;ENSG00000196628:ENST00000537578:exon7:c.A428G:p.E143G;ENSG00000196628:ENST00000563888:exon7:c.A428G:p.E143G;ENSG00000196628:ENST00000564403:exon8:c.A500G:p.E167G;ENSG00000196628:ENST00000570177:exon3:c.A110G:p.E37G;ENSG00000196628:ENST00000563824:exon6:c.A428G:p.E143G;ENSG00000196628:ENST00000569012:exon3:c.A110G:p.E37G;ENSG00000196628:ENST00000565908:exon7:c.A428G:p.E143G;ENSG00000196628:ENST00000568673:exon7:c.A428G:p.E143G;ENSG00000196628:ENST00000540999:exon7:c.A428G:p.E143G;ENSG00000196628:ENST00000566777:exon4:c.A110G:p.E37G;ENSG00000196628:ENST00000537856:exon3:c.A110G:p.E37G;ENSG00000196628:ENST00000398339:exon9:c.A806G:p.E269G;ENSG00000196628:ENST00000564228:exon4:c.A287G:p.E96G;	0.661572078325175	0.498
18	53017639	T	G	18	55350408	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon6:c.A374C:p.E125A;TCF4:NM_003199:exon8:c.A500C:p.E167A;TCF4:NM_001243230:exon7:c.A494C:p.E165A;TCF4:NM_001243232:exon4:c.A287C:p.E96A;TCF4:NM_001083962:exon8:c.A500C:p.E167A;TCF4:NM_001243227:exon7:c.A428C:p.E143A;TCF4:NM_001243226:exon9:c.A806C:p.E269A;TCF4:NM_001243228:exon8:c.A500C:p.E167A;TCF4:NM_001243233:exon4:c.A110C:p.E37A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon3:c.A110C:p.E37A;ENSG00000196628:ENST00000562638:exon3:c.A110C:p.E37A;ENSG00000196628:ENST00000590810:exon3:c.A110C:p.E37A;ENSG00000196628:ENST00000568169:exon7:c.A512C:p.E171A;ENSG00000196628:ENST00000564999:exon8:c.A500C:p.E167A;ENSG00000196628:ENST00000568740:exon7:c.A425C:p.E142A;ENSG00000196628:ENST00000568186:exon3:c.A110C:p.E37A;ENSG00000196628:ENST00000561992:exon4:c.A110C:p.E37A;ENSG00000196628:ENST00000562512:exon4:c.A110C:p.E37A;ENSG00000196628:ENST00000565018:exon8:c.A500C:p.E167A;ENSG00000196628:ENST00000568147:exon7:c.A428C:p.E143A;ENSG00000196628:ENST00000354452:exon8:c.A500C:p.E167A;ENSG00000196628:ENST00000566286:exon7:c.A494C:p.E165A;ENSG00000196628:ENST00000566514:exon7:c.A428C:p.E143A;ENSG00000196628:ENST00000356073:exon8:c.A500C:p.E167A;ENSG00000196628:ENST00000543082:exon6:c.A374C:p.E125A;ENSG00000196628:ENST00000562607:exon3:c.A110C:p.E37A;ENSG00000196628:ENST00000544241:exon4:c.A287C:p.E96A;ENSG00000196628:ENST00000537578:exon7:c.A428C:p.E143A;ENSG00000196628:ENST00000563888:exon7:c.A428C:p.E143A;ENSG00000196628:ENST00000564403:exon8:c.A500C:p.E167A;ENSG00000196628:ENST00000570177:exon3:c.A110C:p.E37A;ENSG00000196628:ENST00000563824:exon6:c.A428C:p.E143A;ENSG00000196628:ENST00000569012:exon3:c.A110C:p.E37A;ENSG00000196628:ENST00000565908:exon7:c.A428C:p.E143A;ENSG00000196628:ENST00000568673:exon7:c.A428C:p.E143A;ENSG00000196628:ENST00000540999:exon7:c.A428C:p.E143A;ENSG00000196628:ENST00000566777:exon4:c.A110C:p.E37A;ENSG00000196628:ENST00000537856:exon3:c.A110C:p.E37A;ENSG00000196628:ENST00000398339:exon9:c.A806C:p.E269A;ENSG00000196628:ENST00000564228:exon4:c.A287C:p.E96A;	0.175887442105514	0.398
18	53017640	C	A	18	55350409	y	y	splicing	TCF4(NM_001243226:exon10:c.806-1G>T;NM_001243230:exon8:c.494-1G>T;NM_001243232:exon5:c.287-1G>T;NM_001083962:exon9:c.500-1G>T;NM_003199:exon9:c.500-1G>T;NM_001243233:exon5:c.110-1G>T;NM_001243231:exon7:c.374-1G>T;NM_001243228:exon9:c.500-1G>T;NM_001243227:exon8:c.428-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon9:c.500-1G>T;ENST00000356073:exon9:c.500-1G>T;ENST00000568673:exon8:c.428-1G>T;ENST00000543082:exon7:c.374-1G>T;ENST00000540999:exon8:c.428-1G>T;ENST00000537578:exon8:c.428-1G>T;ENST00000564999:exon9:c.500-1G>T;ENST00000568740:exon8:c.425-1G>T;ENST00000537856:exon4:c.110-1G>T;ENST00000544241:exon5:c.287-1G>T;ENST00000561992:exon5:c.110-1G>T;ENST00000565018:exon9:c.500-1G>T;ENST00000566286:exon8:c.494-1G>T;ENST00000564228:exon5:c.287-1G>T;ENST00000398339:exon10:c.806-1G>T;ENST00000564403:exon9:c.500-1G>T;ENST00000570177:exon4:c.110-1G>T;ENST00000569012:exon4:c.110-1G>T;ENST00000566514:exon8:c.428-1G>T;ENST00000568169:exon8:c.512-1G>T;ENST00000562607:exon4:c.110-1G>T;ENST00000568186:exon4:c.110-1G>T;ENST00000562638:exon4:c.110-1G>T;ENST00000566777:exon5:c.110-1G>T;ENST00000565908:exon8:c.428-1G>T;ENST00000590810:exon4:c.110-1G>T;ENST00000562030:exon4:c.110-1G>T;ENST00000563824:exon7:c.428-1G>T;ENST00000568147:exon8:c.428-1G>T;ENST00000562512:exon5:c.110-1G>T;ENST00000563888:exon8:c.428-1G>T)	.	.	0.999988247793601	0.926
18	53017640	C	G	18	55350409	y	y	splicing	TCF4(NM_001243226:exon10:c.806-1G>C;NM_001243230:exon8:c.494-1G>C;NM_001243232:exon5:c.287-1G>C;NM_001083962:exon9:c.500-1G>C;NM_003199:exon9:c.500-1G>C;NM_001243233:exon5:c.110-1G>C;NM_001243231:exon7:c.374-1G>C;NM_001243228:exon9:c.500-1G>C;NM_001243227:exon8:c.428-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon9:c.500-1G>C;ENST00000356073:exon9:c.500-1G>C;ENST00000568673:exon8:c.428-1G>C;ENST00000543082:exon7:c.374-1G>C;ENST00000540999:exon8:c.428-1G>C;ENST00000537578:exon8:c.428-1G>C;ENST00000564999:exon9:c.500-1G>C;ENST00000568740:exon8:c.425-1G>C;ENST00000537856:exon4:c.110-1G>C;ENST00000544241:exon5:c.287-1G>C;ENST00000561992:exon5:c.110-1G>C;ENST00000565018:exon9:c.500-1G>C;ENST00000566286:exon8:c.494-1G>C;ENST00000564228:exon5:c.287-1G>C;ENST00000398339:exon10:c.806-1G>C;ENST00000564403:exon9:c.500-1G>C;ENST00000570177:exon4:c.110-1G>C;ENST00000569012:exon4:c.110-1G>C;ENST00000566514:exon8:c.428-1G>C;ENST00000568169:exon8:c.512-1G>C;ENST00000562607:exon4:c.110-1G>C;ENST00000568186:exon4:c.110-1G>C;ENST00000562638:exon4:c.110-1G>C;ENST00000566777:exon5:c.110-1G>C;ENST00000565908:exon8:c.428-1G>C;ENST00000590810:exon4:c.110-1G>C;ENST00000562030:exon4:c.110-1G>C;ENST00000563824:exon7:c.428-1G>C;ENST00000568147:exon8:c.428-1G>C;ENST00000562512:exon5:c.110-1G>C;ENST00000563888:exon8:c.428-1G>C)	.	.	0.999988247793601	0.926
18	53017640	C	T	18	55350409	y	y	splicing	TCF4(NM_001243226:exon10:c.806-1G>A;NM_001243230:exon8:c.494-1G>A;NM_001243232:exon5:c.287-1G>A;NM_001083962:exon9:c.500-1G>A;NM_003199:exon9:c.500-1G>A;NM_001243233:exon5:c.110-1G>A;NM_001243231:exon7:c.374-1G>A;NM_001243228:exon9:c.500-1G>A;NM_001243227:exon8:c.428-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon9:c.500-1G>A;ENST00000356073:exon9:c.500-1G>A;ENST00000568673:exon8:c.428-1G>A;ENST00000543082:exon7:c.374-1G>A;ENST00000540999:exon8:c.428-1G>A;ENST00000537578:exon8:c.428-1G>A;ENST00000564999:exon9:c.500-1G>A;ENST00000568740:exon8:c.425-1G>A;ENST00000537856:exon4:c.110-1G>A;ENST00000544241:exon5:c.287-1G>A;ENST00000561992:exon5:c.110-1G>A;ENST00000565018:exon9:c.500-1G>A;ENST00000566286:exon8:c.494-1G>A;ENST00000564228:exon5:c.287-1G>A;ENST00000398339:exon10:c.806-1G>A;ENST00000564403:exon9:c.500-1G>A;ENST00000570177:exon4:c.110-1G>A;ENST00000569012:exon4:c.110-1G>A;ENST00000566514:exon8:c.428-1G>A;ENST00000568169:exon8:c.512-1G>A;ENST00000562607:exon4:c.110-1G>A;ENST00000568186:exon4:c.110-1G>A;ENST00000562638:exon4:c.110-1G>A;ENST00000566777:exon5:c.110-1G>A;ENST00000565908:exon8:c.428-1G>A;ENST00000590810:exon4:c.110-1G>A;ENST00000562030:exon4:c.110-1G>A;ENST00000563824:exon7:c.428-1G>A;ENST00000568147:exon8:c.428-1G>A;ENST00000562512:exon5:c.110-1G>A;ENST00000563888:exon8:c.428-1G>A)	.	.	0.999988247793601	0.926
18	53017641	T	A	18	55350410	y	y	splicing	TCF4(NM_001243226:exon10:c.806-2A>T;NM_001243230:exon8:c.494-2A>T;NM_001243232:exon5:c.287-2A>T;NM_001083962:exon9:c.500-2A>T;NM_003199:exon9:c.500-2A>T;NM_001243233:exon5:c.110-2A>T;NM_001243231:exon7:c.374-2A>T;NM_001243228:exon9:c.500-2A>T;NM_001243227:exon8:c.428-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon9:c.500-2A>T;ENST00000356073:exon9:c.500-2A>T;ENST00000568673:exon8:c.428-2A>T;ENST00000543082:exon7:c.374-2A>T;ENST00000540999:exon8:c.428-2A>T;ENST00000537578:exon8:c.428-2A>T;ENST00000564999:exon9:c.500-2A>T;ENST00000568740:exon8:c.425-2A>T;ENST00000537856:exon4:c.110-2A>T;ENST00000544241:exon5:c.287-2A>T;ENST00000561992:exon5:c.110-2A>T;ENST00000565018:exon9:c.500-2A>T;ENST00000566286:exon8:c.494-2A>T;ENST00000564228:exon5:c.287-2A>T;ENST00000398339:exon10:c.806-2A>T;ENST00000564403:exon9:c.500-2A>T;ENST00000570177:exon4:c.110-2A>T;ENST00000569012:exon4:c.110-2A>T;ENST00000566514:exon8:c.428-2A>T;ENST00000568169:exon8:c.512-2A>T;ENST00000562607:exon4:c.110-2A>T;ENST00000568186:exon4:c.110-2A>T;ENST00000562638:exon4:c.110-2A>T;ENST00000566777:exon5:c.110-2A>T;ENST00000565908:exon8:c.428-2A>T;ENST00000590810:exon4:c.110-2A>T;ENST00000562030:exon4:c.110-2A>T;ENST00000563824:exon7:c.428-2A>T;ENST00000568147:exon8:c.428-2A>T;ENST00000562512:exon5:c.110-2A>T;ENST00000563888:exon8:c.428-2A>T)	.	.	0.999992446697775	0.928
18	53017641	T	C	18	55350410	y	y	splicing	TCF4(NM_001243226:exon10:c.806-2A>G;NM_001243230:exon8:c.494-2A>G;NM_001243232:exon5:c.287-2A>G;NM_001083962:exon9:c.500-2A>G;NM_003199:exon9:c.500-2A>G;NM_001243233:exon5:c.110-2A>G;NM_001243231:exon7:c.374-2A>G;NM_001243228:exon9:c.500-2A>G;NM_001243227:exon8:c.428-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon9:c.500-2A>G;ENST00000356073:exon9:c.500-2A>G;ENST00000568673:exon8:c.428-2A>G;ENST00000543082:exon7:c.374-2A>G;ENST00000540999:exon8:c.428-2A>G;ENST00000537578:exon8:c.428-2A>G;ENST00000564999:exon9:c.500-2A>G;ENST00000568740:exon8:c.425-2A>G;ENST00000537856:exon4:c.110-2A>G;ENST00000544241:exon5:c.287-2A>G;ENST00000561992:exon5:c.110-2A>G;ENST00000565018:exon9:c.500-2A>G;ENST00000566286:exon8:c.494-2A>G;ENST00000564228:exon5:c.287-2A>G;ENST00000398339:exon10:c.806-2A>G;ENST00000564403:exon9:c.500-2A>G;ENST00000570177:exon4:c.110-2A>G;ENST00000569012:exon4:c.110-2A>G;ENST00000566514:exon8:c.428-2A>G;ENST00000568169:exon8:c.512-2A>G;ENST00000562607:exon4:c.110-2A>G;ENST00000568186:exon4:c.110-2A>G;ENST00000562638:exon4:c.110-2A>G;ENST00000566777:exon5:c.110-2A>G;ENST00000565908:exon8:c.428-2A>G;ENST00000590810:exon4:c.110-2A>G;ENST00000562030:exon4:c.110-2A>G;ENST00000563824:exon7:c.428-2A>G;ENST00000568147:exon8:c.428-2A>G;ENST00000562512:exon5:c.110-2A>G;ENST00000563888:exon8:c.428-2A>G)	.	.	0.999992446697775	0.926
18	53017641	T	G	18	55350410	y	y	splicing	TCF4(NM_001243226:exon10:c.806-2A>C;NM_001243230:exon8:c.494-2A>C;NM_001243232:exon5:c.287-2A>C;NM_001083962:exon9:c.500-2A>C;NM_003199:exon9:c.500-2A>C;NM_001243233:exon5:c.110-2A>C;NM_001243231:exon7:c.374-2A>C;NM_001243228:exon9:c.500-2A>C;NM_001243227:exon8:c.428-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon9:c.500-2A>C;ENST00000356073:exon9:c.500-2A>C;ENST00000568673:exon8:c.428-2A>C;ENST00000543082:exon7:c.374-2A>C;ENST00000540999:exon8:c.428-2A>C;ENST00000537578:exon8:c.428-2A>C;ENST00000564999:exon9:c.500-2A>C;ENST00000568740:exon8:c.425-2A>C;ENST00000537856:exon4:c.110-2A>C;ENST00000544241:exon5:c.287-2A>C;ENST00000561992:exon5:c.110-2A>C;ENST00000565018:exon9:c.500-2A>C;ENST00000566286:exon8:c.494-2A>C;ENST00000564228:exon5:c.287-2A>C;ENST00000398339:exon10:c.806-2A>C;ENST00000564403:exon9:c.500-2A>C;ENST00000570177:exon4:c.110-2A>C;ENST00000569012:exon4:c.110-2A>C;ENST00000566514:exon8:c.428-2A>C;ENST00000568169:exon8:c.512-2A>C;ENST00000562607:exon4:c.110-2A>C;ENST00000568186:exon4:c.110-2A>C;ENST00000562638:exon4:c.110-2A>C;ENST00000566777:exon5:c.110-2A>C;ENST00000565908:exon8:c.428-2A>C;ENST00000590810:exon4:c.110-2A>C;ENST00000562030:exon4:c.110-2A>C;ENST00000563824:exon7:c.428-2A>C;ENST00000568147:exon8:c.428-2A>C;ENST00000562512:exon5:c.110-2A>C;ENST00000563888:exon8:c.428-2A>C)	.	.	0.999992446697775	0.926
18	53017642	G	A	18	55350411	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0506625169619262	0.164
18	53017642	G	C	18	55350411	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999866558301534	0.966
18	53017642	G	T	18	55350411	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.995552579148398	0.89
18	53017643	A	C	18	55350412	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.6625140976655E-4	0.006
18	53017643	A	G	18	55350412	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.88000682427903E-4	0.018
18	53017643	A	T	18	55350412	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00479809755494319	0.02
18	53017644	A	C	18	55350413	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99459243221763	0.738
18	53017644	A	G	18	55350413	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.298069852097597	0.402
18	53017644	A	T	18	55350413	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.988525474830518	0.724
18	53017645	A	C	18	55350414	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.174577951739001	0.32
18	53017645	A	G	18	55350414	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00100296986366272	0.04
18	53017645	A	T	18	55350414	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.064059328261287	0.3
18	53017646	G	A	18	55350415	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.92404213981949E-4	0.008
18	53017646	G	C	18	55350415	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00690647821124824	0.076
18	53017646	G	T	18	55350415	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0237342818638361	0.16
18	53017647	A	C	18	55350416	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0136700139001929	0.106
18	53017647	A	G	18	55350416	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00208564069109591	0.014
18	53017647	A	T	18	55350416	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0130195909930381	0.162
18	53017648	A	C	18	55350417	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0488249558520922	0.206
18	53017648	A	G	18	55350417	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0029248101716912	0.068
18	53017648	A	T	18	55350417	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0392276393307447	0.232
18	53017649	A	C	18	55350418	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.897502482899208	0.52
18	53017649	A	G	18	55350418	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.191679431633536	0.396
18	53017649	A	T	18	55350418	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.964872282504451	0.598
18	53017650	A	C	18	55350419	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999953609395943	0.956
18	53017650	A	G	18	55350419	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0323672799653143	0.168
18	53017650	A	T	18	55350419	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.103587028063756	0.406
18	53017651	T	A	18	55350420	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.72337298296988E-5	0.146
18	53017651	T	C	18	55350420	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.60468595128245E-5	0.08
18	53017651	T	G	18	55350420	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.49337194382404E-5	0.096
18	53018097	T	A	18	55350866	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.92960409948999E-4	0.01
18	53018097	T	C	18	55350866	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.22145818907599E-4	0.012
18	53018097	T	G	18	55350866	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00102796066041507	0.012
18	53018098	A	C	18	55350867	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.29577524508699E-5	0.002
18	53018098	A	G	18	55350867	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.29577524508699E-5	0.0
18	53018098	A	T	18	55350867	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.68947342310866E-4	0.0
18	53018099	C	A	18	55350868	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.84985071187E-4	0.0
18	53018099	C	G	18	55350868	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.88752155492325E-4	0.056
18	53018099	C	T	18	55350868	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.37461817532699E-4	0.006
18	53018100	C	A	18	55350869	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99992996510417	0.934
18	53018100	C	G	18	55350869	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999957985467317	0.896
18	53018100	C	T	18	55350869	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99971901937631	0.936
18	53018101	T	A	18	55350870	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.992297475699954	0.888
18	53018101	T	C	18	55350870	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996222689188229	0.886
18	53018101	T	G	18	55350870	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.981234737937692	0.84
18	53018102	T	A	18	55350871	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999588177993516	0.866
18	53018102	T	C	18	55350871	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.634109226743417	0.442
18	53018102	T	G	18	55350871	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999349319617951	0.89
18	53018103	A	C	18	55350872	y	y	splicing	TCF4(NM_001243226:exon9:c.805+2T>G;NM_001243230:exon7:c.493+2T>G;NM_001243232:exon4:c.286+2T>G;NM_001083962:exon8:c.499+2T>G;NM_003199:exon8:c.499+2T>G;NM_001243233:exon4:c.109+2T>G;NM_001243231:exon6:c.373+2T>G;NM_001243228:exon8:c.499+2T>G;NM_001243227:exon7:c.427+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.499+2T>G;ENST00000356073:exon8:c.499+2T>G;ENST00000568673:exon7:c.427+2T>G;ENST00000543082:exon6:c.373+2T>G;ENST00000540999:exon7:c.427+2T>G;ENST00000537578:exon7:c.427+2T>G;ENST00000564999:exon8:c.499+2T>G;ENST00000568740:exon7:c.424+2T>G;ENST00000537856:exon3:c.109+2T>G;ENST00000544241:exon4:c.286+2T>G;ENST00000561992:exon4:c.109+2T>G;ENST00000565018:exon8:c.499+2T>G;ENST00000566286:exon7:c.493+2T>G;ENST00000564228:exon4:c.286+2T>G;ENST00000398339:exon9:c.805+2T>G;ENST00000564403:exon8:c.499+2T>G;ENST00000570177:exon3:c.109+2T>G;ENST00000569012:exon3:c.109+2T>G;ENST00000566514:exon7:c.427+2T>G;ENST00000568169:exon7:c.511+2T>G;ENST00000562607:exon3:c.109+2T>G;ENST00000568186:exon3:c.109+2T>G;ENST00000562638:exon3:c.109+2T>G;ENST00000566777:exon4:c.109+2T>G;ENST00000565908:exon7:c.427+2T>G;ENST00000590810:exon3:c.109+2T>G;ENST00000562030:exon3:c.109+2T>G;ENST00000563824:exon6:c.427+2T>G;ENST00000568147:exon7:c.427+2T>G;ENST00000562512:exon4:c.109+2T>G;ENST00000563888:exon7:c.427+2T>G)	.	.	0.999988247793601	0.928
18	53018103	A	G	18	55350872	y	y	splicing	TCF4(NM_001243226:exon9:c.805+2T>C;NM_001243230:exon7:c.493+2T>C;NM_001243232:exon4:c.286+2T>C;NM_001083962:exon8:c.499+2T>C;NM_003199:exon8:c.499+2T>C;NM_001243233:exon4:c.109+2T>C;NM_001243231:exon6:c.373+2T>C;NM_001243228:exon8:c.499+2T>C;NM_001243227:exon7:c.427+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.499+2T>C;ENST00000356073:exon8:c.499+2T>C;ENST00000568673:exon7:c.427+2T>C;ENST00000543082:exon6:c.373+2T>C;ENST00000540999:exon7:c.427+2T>C;ENST00000537578:exon7:c.427+2T>C;ENST00000564999:exon8:c.499+2T>C;ENST00000568740:exon7:c.424+2T>C;ENST00000537856:exon3:c.109+2T>C;ENST00000544241:exon4:c.286+2T>C;ENST00000561992:exon4:c.109+2T>C;ENST00000565018:exon8:c.499+2T>C;ENST00000566286:exon7:c.493+2T>C;ENST00000564228:exon4:c.286+2T>C;ENST00000398339:exon9:c.805+2T>C;ENST00000564403:exon8:c.499+2T>C;ENST00000570177:exon3:c.109+2T>C;ENST00000569012:exon3:c.109+2T>C;ENST00000566514:exon7:c.427+2T>C;ENST00000568169:exon7:c.511+2T>C;ENST00000562607:exon3:c.109+2T>C;ENST00000568186:exon3:c.109+2T>C;ENST00000562638:exon3:c.109+2T>C;ENST00000566777:exon4:c.109+2T>C;ENST00000565908:exon7:c.427+2T>C;ENST00000590810:exon3:c.109+2T>C;ENST00000562030:exon3:c.109+2T>C;ENST00000563824:exon6:c.427+2T>C;ENST00000568147:exon7:c.427+2T>C;ENST00000562512:exon4:c.109+2T>C;ENST00000563888:exon7:c.427+2T>C)	.	.	0.99991522016916	0.884
18	53018103	A	T	18	55350872	y	y	splicing	TCF4(NM_001243226:exon9:c.805+2T>A;NM_001243230:exon7:c.493+2T>A;NM_001243232:exon4:c.286+2T>A;NM_001083962:exon8:c.499+2T>A;NM_003199:exon8:c.499+2T>A;NM_001243233:exon4:c.109+2T>A;NM_001243231:exon6:c.373+2T>A;NM_001243228:exon8:c.499+2T>A;NM_001243227:exon7:c.427+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.499+2T>A;ENST00000356073:exon8:c.499+2T>A;ENST00000568673:exon7:c.427+2T>A;ENST00000543082:exon6:c.373+2T>A;ENST00000540999:exon7:c.427+2T>A;ENST00000537578:exon7:c.427+2T>A;ENST00000564999:exon8:c.499+2T>A;ENST00000568740:exon7:c.424+2T>A;ENST00000537856:exon3:c.109+2T>A;ENST00000544241:exon4:c.286+2T>A;ENST00000561992:exon4:c.109+2T>A;ENST00000565018:exon8:c.499+2T>A;ENST00000566286:exon7:c.493+2T>A;ENST00000564228:exon4:c.286+2T>A;ENST00000398339:exon9:c.805+2T>A;ENST00000564403:exon8:c.499+2T>A;ENST00000570177:exon3:c.109+2T>A;ENST00000569012:exon3:c.109+2T>A;ENST00000566514:exon7:c.427+2T>A;ENST00000568169:exon7:c.511+2T>A;ENST00000562607:exon3:c.109+2T>A;ENST00000568186:exon3:c.109+2T>A;ENST00000562638:exon3:c.109+2T>A;ENST00000566777:exon4:c.109+2T>A;ENST00000565908:exon7:c.427+2T>A;ENST00000590810:exon3:c.109+2T>A;ENST00000562030:exon3:c.109+2T>A;ENST00000563824:exon6:c.427+2T>A;ENST00000568147:exon7:c.427+2T>A;ENST00000562512:exon4:c.109+2T>A;ENST00000563888:exon7:c.427+2T>A)	.	.	0.999988247793601	0.928
18	53018104	C	A	18	55350873	y	y	splicing	TCF4(NM_001243226:exon9:c.805+1G>T;NM_001243230:exon7:c.493+1G>T;NM_001243232:exon4:c.286+1G>T;NM_001083962:exon8:c.499+1G>T;NM_003199:exon8:c.499+1G>T;NM_001243233:exon4:c.109+1G>T;NM_001243231:exon6:c.373+1G>T;NM_001243228:exon8:c.499+1G>T;NM_001243227:exon7:c.427+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.499+1G>T;ENST00000356073:exon8:c.499+1G>T;ENST00000568673:exon7:c.427+1G>T;ENST00000543082:exon6:c.373+1G>T;ENST00000540999:exon7:c.427+1G>T;ENST00000537578:exon7:c.427+1G>T;ENST00000564999:exon8:c.499+1G>T;ENST00000568740:exon7:c.424+1G>T;ENST00000537856:exon3:c.109+1G>T;ENST00000544241:exon4:c.286+1G>T;ENST00000561992:exon4:c.109+1G>T;ENST00000565018:exon8:c.499+1G>T;ENST00000566286:exon7:c.493+1G>T;ENST00000564228:exon4:c.286+1G>T;ENST00000398339:exon9:c.805+1G>T;ENST00000564403:exon8:c.499+1G>T;ENST00000570177:exon3:c.109+1G>T;ENST00000569012:exon3:c.109+1G>T;ENST00000566514:exon7:c.427+1G>T;ENST00000568169:exon7:c.511+1G>T;ENST00000562607:exon3:c.109+1G>T;ENST00000568186:exon3:c.109+1G>T;ENST00000562638:exon3:c.109+1G>T;ENST00000566777:exon4:c.109+1G>T;ENST00000565908:exon7:c.427+1G>T;ENST00000590810:exon3:c.109+1G>T;ENST00000562030:exon3:c.109+1G>T;ENST00000563824:exon6:c.427+1G>T;ENST00000568147:exon7:c.427+1G>T;ENST00000562512:exon4:c.109+1G>T;ENST00000563888:exon7:c.427+1G>T)	.	.	0.999990361384395	0.938
18	53018104	C	G	18	55350873	y	y	splicing	TCF4(NM_001243226:exon9:c.805+1G>C;NM_001243230:exon7:c.493+1G>C;NM_001243232:exon4:c.286+1G>C;NM_001083962:exon8:c.499+1G>C;NM_003199:exon8:c.499+1G>C;NM_001243233:exon4:c.109+1G>C;NM_001243231:exon6:c.373+1G>C;NM_001243228:exon8:c.499+1G>C;NM_001243227:exon7:c.427+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.499+1G>C;ENST00000356073:exon8:c.499+1G>C;ENST00000568673:exon7:c.427+1G>C;ENST00000543082:exon6:c.373+1G>C;ENST00000540999:exon7:c.427+1G>C;ENST00000537578:exon7:c.427+1G>C;ENST00000564999:exon8:c.499+1G>C;ENST00000568740:exon7:c.424+1G>C;ENST00000537856:exon3:c.109+1G>C;ENST00000544241:exon4:c.286+1G>C;ENST00000561992:exon4:c.109+1G>C;ENST00000565018:exon8:c.499+1G>C;ENST00000566286:exon7:c.493+1G>C;ENST00000564228:exon4:c.286+1G>C;ENST00000398339:exon9:c.805+1G>C;ENST00000564403:exon8:c.499+1G>C;ENST00000570177:exon3:c.109+1G>C;ENST00000569012:exon3:c.109+1G>C;ENST00000566514:exon7:c.427+1G>C;ENST00000568169:exon7:c.511+1G>C;ENST00000562607:exon3:c.109+1G>C;ENST00000568186:exon3:c.109+1G>C;ENST00000562638:exon3:c.109+1G>C;ENST00000566777:exon4:c.109+1G>C;ENST00000565908:exon7:c.427+1G>C;ENST00000590810:exon3:c.109+1G>C;ENST00000562030:exon3:c.109+1G>C;ENST00000563824:exon6:c.427+1G>C;ENST00000568147:exon7:c.427+1G>C;ENST00000562512:exon4:c.109+1G>C;ENST00000563888:exon7:c.427+1G>C)	.	.	0.999990361384395	0.938
18	53018104	C	T	18	55350873	y	y	splicing	TCF4(NM_001243226:exon9:c.805+1G>A;NM_001243230:exon7:c.493+1G>A;NM_001243232:exon4:c.286+1G>A;NM_001083962:exon8:c.499+1G>A;NM_003199:exon8:c.499+1G>A;NM_001243233:exon4:c.109+1G>A;NM_001243231:exon6:c.373+1G>A;NM_001243228:exon8:c.499+1G>A;NM_001243227:exon7:c.427+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.499+1G>A;ENST00000356073:exon8:c.499+1G>A;ENST00000568673:exon7:c.427+1G>A;ENST00000543082:exon6:c.373+1G>A;ENST00000540999:exon7:c.427+1G>A;ENST00000537578:exon7:c.427+1G>A;ENST00000564999:exon8:c.499+1G>A;ENST00000568740:exon7:c.424+1G>A;ENST00000537856:exon3:c.109+1G>A;ENST00000544241:exon4:c.286+1G>A;ENST00000561992:exon4:c.109+1G>A;ENST00000565018:exon8:c.499+1G>A;ENST00000566286:exon7:c.493+1G>A;ENST00000564228:exon4:c.286+1G>A;ENST00000398339:exon9:c.805+1G>A;ENST00000564403:exon8:c.499+1G>A;ENST00000570177:exon3:c.109+1G>A;ENST00000569012:exon3:c.109+1G>A;ENST00000566514:exon7:c.427+1G>A;ENST00000568169:exon7:c.511+1G>A;ENST00000562607:exon3:c.109+1G>A;ENST00000568186:exon3:c.109+1G>A;ENST00000562638:exon3:c.109+1G>A;ENST00000566777:exon4:c.109+1G>A;ENST00000565908:exon7:c.427+1G>A;ENST00000590810:exon3:c.109+1G>A;ENST00000562030:exon3:c.109+1G>A;ENST00000563824:exon6:c.427+1G>A;ENST00000568147:exon7:c.427+1G>A;ENST00000562512:exon4:c.109+1G>A;ENST00000563888:exon7:c.427+1G>A)	.	.	0.999990361384395	0.938
18	53018105	C	A	18	55350874	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243231:exon5:c.G373T:p.E125X;TCF4:NM_003199:exon7:c.G499T:p.E167X;TCF4:NM_001243230:exon6:c.G493T:p.E165X;TCF4:NM_001243232:exon3:c.G286T:p.E96X;TCF4:NM_001083962:exon7:c.G499T:p.E167X;TCF4:NM_001243227:exon6:c.G427T:p.E143X;TCF4:NM_001243226:exon8:c.G805T:p.E269X;TCF4:NM_001243228:exon7:c.G499T:p.E167X;TCF4:NM_001243233:exon3:c.G109T:p.E37X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000562030:exon2:c.G109T:p.E37X;ENSG00000196628:ENST00000562638:exon2:c.G109T:p.E37X;ENSG00000196628:ENST00000590810:exon2:c.G109T:p.E37X;ENSG00000196628:ENST00000568169:exon6:c.G511T:p.E171X;ENSG00000196628:ENST00000564999:exon7:c.G499T:p.E167X;ENSG00000196628:ENST00000568740:exon6:c.G424T:p.E142X;ENSG00000196628:ENST00000568186:exon2:c.G109T:p.E37X;ENSG00000196628:ENST00000561992:exon3:c.G109T:p.E37X;ENSG00000196628:ENST00000562512:exon3:c.G109T:p.E37X;ENSG00000196628:ENST00000565018:exon7:c.G499T:p.E167X;ENSG00000196628:ENST00000568147:exon6:c.G427T:p.E143X;ENSG00000196628:ENST00000354452:exon7:c.G499T:p.E167X;ENSG00000196628:ENST00000566286:exon6:c.G493T:p.E165X;ENSG00000196628:ENST00000566514:exon6:c.G427T:p.E143X;ENSG00000196628:ENST00000356073:exon7:c.G499T:p.E167X;ENSG00000196628:ENST00000543082:exon5:c.G373T:p.E125X;ENSG00000196628:ENST00000562607:exon2:c.G109T:p.E37X;ENSG00000196628:ENST00000544241:exon3:c.G286T:p.E96X;ENSG00000196628:ENST00000537578:exon6:c.G427T:p.E143X;ENSG00000196628:ENST00000563888:exon6:c.G427T:p.E143X;ENSG00000196628:ENST00000564403:exon7:c.G499T:p.E167X;ENSG00000196628:ENST00000570177:exon2:c.G109T:p.E37X;ENSG00000196628:ENST00000563824:exon5:c.G427T:p.E143X;ENSG00000196628:ENST00000569012:exon2:c.G109T:p.E37X;ENSG00000196628:ENST00000565908:exon6:c.G427T:p.E143X;ENSG00000196628:ENST00000568673:exon6:c.G427T:p.E143X;ENSG00000196628:ENST00000540999:exon6:c.G427T:p.E143X;ENSG00000196628:ENST00000566777:exon3:c.G109T:p.E37X;ENSG00000196628:ENST00000537856:exon2:c.G109T:p.E37X;ENSG00000196628:ENST00000398339:exon8:c.G805T:p.E269X;ENSG00000196628:ENST00000564228:exon3:c.G286T:p.E96X;	0.999928490777943	0.998
18	53018105	C	G	18	55350874	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.G373C:p.E125Q;TCF4:NM_003199:exon7:c.G499C:p.E167Q;TCF4:NM_001243230:exon6:c.G493C:p.E165Q;TCF4:NM_001243232:exon3:c.G286C:p.E96Q;TCF4:NM_001083962:exon7:c.G499C:p.E167Q;TCF4:NM_001243227:exon6:c.G427C:p.E143Q;TCF4:NM_001243226:exon8:c.G805C:p.E269Q;TCF4:NM_001243228:exon7:c.G499C:p.E167Q;TCF4:NM_001243233:exon3:c.G109C:p.E37Q;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon2:c.G109C:p.E37Q;ENSG00000196628:ENST00000562638:exon2:c.G109C:p.E37Q;ENSG00000196628:ENST00000590810:exon2:c.G109C:p.E37Q;ENSG00000196628:ENST00000568169:exon6:c.G511C:p.E171Q;ENSG00000196628:ENST00000564999:exon7:c.G499C:p.E167Q;ENSG00000196628:ENST00000568740:exon6:c.G424C:p.E142Q;ENSG00000196628:ENST00000568186:exon2:c.G109C:p.E37Q;ENSG00000196628:ENST00000561992:exon3:c.G109C:p.E37Q;ENSG00000196628:ENST00000562512:exon3:c.G109C:p.E37Q;ENSG00000196628:ENST00000565018:exon7:c.G499C:p.E167Q;ENSG00000196628:ENST00000568147:exon6:c.G427C:p.E143Q;ENSG00000196628:ENST00000354452:exon7:c.G499C:p.E167Q;ENSG00000196628:ENST00000566286:exon6:c.G493C:p.E165Q;ENSG00000196628:ENST00000566514:exon6:c.G427C:p.E143Q;ENSG00000196628:ENST00000356073:exon7:c.G499C:p.E167Q;ENSG00000196628:ENST00000543082:exon5:c.G373C:p.E125Q;ENSG00000196628:ENST00000562607:exon2:c.G109C:p.E37Q;ENSG00000196628:ENST00000544241:exon3:c.G286C:p.E96Q;ENSG00000196628:ENST00000537578:exon6:c.G427C:p.E143Q;ENSG00000196628:ENST00000563888:exon6:c.G427C:p.E143Q;ENSG00000196628:ENST00000564403:exon7:c.G499C:p.E167Q;ENSG00000196628:ENST00000570177:exon2:c.G109C:p.E37Q;ENSG00000196628:ENST00000563824:exon5:c.G427C:p.E143Q;ENSG00000196628:ENST00000569012:exon2:c.G109C:p.E37Q;ENSG00000196628:ENST00000565908:exon6:c.G427C:p.E143Q;ENSG00000196628:ENST00000568673:exon6:c.G427C:p.E143Q;ENSG00000196628:ENST00000540999:exon6:c.G427C:p.E143Q;ENSG00000196628:ENST00000566777:exon3:c.G109C:p.E37Q;ENSG00000196628:ENST00000537856:exon2:c.G109C:p.E37Q;ENSG00000196628:ENST00000398339:exon8:c.G805C:p.E269Q;ENSG00000196628:ENST00000564228:exon3:c.G286C:p.E96Q;	0.999985708910472	0.994
18	53018105	C	T	18	55350874	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.G373A:p.E125K;TCF4:NM_003199:exon7:c.G499A:p.E167K;TCF4:NM_001243230:exon6:c.G493A:p.E165K;TCF4:NM_001243232:exon3:c.G286A:p.E96K;TCF4:NM_001083962:exon7:c.G499A:p.E167K;TCF4:NM_001243227:exon6:c.G427A:p.E143K;TCF4:NM_001243226:exon8:c.G805A:p.E269K;TCF4:NM_001243228:exon7:c.G499A:p.E167K;TCF4:NM_001243233:exon3:c.G109A:p.E37K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon2:c.G109A:p.E37K;ENSG00000196628:ENST00000562638:exon2:c.G109A:p.E37K;ENSG00000196628:ENST00000590810:exon2:c.G109A:p.E37K;ENSG00000196628:ENST00000568169:exon6:c.G511A:p.E171K;ENSG00000196628:ENST00000564999:exon7:c.G499A:p.E167K;ENSG00000196628:ENST00000568740:exon6:c.G424A:p.E142K;ENSG00000196628:ENST00000568186:exon2:c.G109A:p.E37K;ENSG00000196628:ENST00000561992:exon3:c.G109A:p.E37K;ENSG00000196628:ENST00000562512:exon3:c.G109A:p.E37K;ENSG00000196628:ENST00000565018:exon7:c.G499A:p.E167K;ENSG00000196628:ENST00000568147:exon6:c.G427A:p.E143K;ENSG00000196628:ENST00000354452:exon7:c.G499A:p.E167K;ENSG00000196628:ENST00000566286:exon6:c.G493A:p.E165K;ENSG00000196628:ENST00000566514:exon6:c.G427A:p.E143K;ENSG00000196628:ENST00000356073:exon7:c.G499A:p.E167K;ENSG00000196628:ENST00000543082:exon5:c.G373A:p.E125K;ENSG00000196628:ENST00000562607:exon2:c.G109A:p.E37K;ENSG00000196628:ENST00000544241:exon3:c.G286A:p.E96K;ENSG00000196628:ENST00000537578:exon6:c.G427A:p.E143K;ENSG00000196628:ENST00000563888:exon6:c.G427A:p.E143K;ENSG00000196628:ENST00000564403:exon7:c.G499A:p.E167K;ENSG00000196628:ENST00000570177:exon2:c.G109A:p.E37K;ENSG00000196628:ENST00000563824:exon5:c.G427A:p.E143K;ENSG00000196628:ENST00000569012:exon2:c.G109A:p.E37K;ENSG00000196628:ENST00000565908:exon6:c.G427A:p.E143K;ENSG00000196628:ENST00000568673:exon6:c.G427A:p.E143K;ENSG00000196628:ENST00000540999:exon6:c.G427A:p.E143K;ENSG00000196628:ENST00000566777:exon3:c.G109A:p.E37K;ENSG00000196628:ENST00000537856:exon2:c.G109A:p.E37K;ENSG00000196628:ENST00000398339:exon8:c.G805A:p.E269K;ENSG00000196628:ENST00000564228:exon3:c.G286A:p.E96K;	0.999976149304541	0.998
18	53018106	C	A	18	55350875	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.G372T:p.M124I;TCF4:NM_003199:exon7:c.G498T:p.M166I;TCF4:NM_001243230:exon6:c.G492T:p.M164I;TCF4:NM_001243232:exon3:c.G285T:p.M95I;TCF4:NM_001083962:exon7:c.G498T:p.M166I;TCF4:NM_001243227:exon6:c.G426T:p.M142I;TCF4:NM_001243226:exon8:c.G804T:p.M268I;TCF4:NM_001243228:exon7:c.G498T:p.M166I;TCF4:NM_001243233:exon3:c.G108T:p.M36I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon2:c.G108T:p.M36I;ENSG00000196628:ENST00000562638:exon2:c.G108T:p.M36I;ENSG00000196628:ENST00000590810:exon2:c.G108T:p.M36I;ENSG00000196628:ENST00000568169:exon6:c.G510T:p.M170I;ENSG00000196628:ENST00000564999:exon7:c.G498T:p.M166I;ENSG00000196628:ENST00000568740:exon6:c.G423T:p.M141I;ENSG00000196628:ENST00000568186:exon2:c.G108T:p.M36I;ENSG00000196628:ENST00000561992:exon3:c.G108T:p.M36I;ENSG00000196628:ENST00000562512:exon3:c.G108T:p.M36I;ENSG00000196628:ENST00000565018:exon7:c.G498T:p.M166I;ENSG00000196628:ENST00000568147:exon6:c.G426T:p.M142I;ENSG00000196628:ENST00000354452:exon7:c.G498T:p.M166I;ENSG00000196628:ENST00000566286:exon6:c.G492T:p.M164I;ENSG00000196628:ENST00000566514:exon6:c.G426T:p.M142I;ENSG00000196628:ENST00000356073:exon7:c.G498T:p.M166I;ENSG00000196628:ENST00000543082:exon5:c.G372T:p.M124I;ENSG00000196628:ENST00000562607:exon2:c.G108T:p.M36I;ENSG00000196628:ENST00000544241:exon3:c.G285T:p.M95I;ENSG00000196628:ENST00000537578:exon6:c.G426T:p.M142I;ENSG00000196628:ENST00000563888:exon6:c.G426T:p.M142I;ENSG00000196628:ENST00000564403:exon7:c.G498T:p.M166I;ENSG00000196628:ENST00000570177:exon2:c.G108T:p.M36I;ENSG00000196628:ENST00000563824:exon5:c.G426T:p.M142I;ENSG00000196628:ENST00000569012:exon2:c.G108T:p.M36I;ENSG00000196628:ENST00000565908:exon6:c.G426T:p.M142I;ENSG00000196628:ENST00000568673:exon6:c.G426T:p.M142I;ENSG00000196628:ENST00000540999:exon6:c.G426T:p.M142I;ENSG00000196628:ENST00000566777:exon3:c.G108T:p.M36I;ENSG00000196628:ENST00000537856:exon2:c.G108T:p.M36I;ENSG00000196628:ENST00000398339:exon8:c.G804T:p.M268I;ENSG00000196628:ENST00000564228:exon3:c.G285T:p.M95I;	0.0168221998109711	0.076
18	53018106	C	G	18	55350875	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.G372C:p.M124I;TCF4:NM_003199:exon7:c.G498C:p.M166I;TCF4:NM_001243230:exon6:c.G492C:p.M164I;TCF4:NM_001243232:exon3:c.G285C:p.M95I;TCF4:NM_001083962:exon7:c.G498C:p.M166I;TCF4:NM_001243227:exon6:c.G426C:p.M142I;TCF4:NM_001243226:exon8:c.G804C:p.M268I;TCF4:NM_001243228:exon7:c.G498C:p.M166I;TCF4:NM_001243233:exon3:c.G108C:p.M36I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon2:c.G108C:p.M36I;ENSG00000196628:ENST00000562638:exon2:c.G108C:p.M36I;ENSG00000196628:ENST00000590810:exon2:c.G108C:p.M36I;ENSG00000196628:ENST00000568169:exon6:c.G510C:p.M170I;ENSG00000196628:ENST00000564999:exon7:c.G498C:p.M166I;ENSG00000196628:ENST00000568740:exon6:c.G423C:p.M141I;ENSG00000196628:ENST00000568186:exon2:c.G108C:p.M36I;ENSG00000196628:ENST00000561992:exon3:c.G108C:p.M36I;ENSG00000196628:ENST00000562512:exon3:c.G108C:p.M36I;ENSG00000196628:ENST00000565018:exon7:c.G498C:p.M166I;ENSG00000196628:ENST00000568147:exon6:c.G426C:p.M142I;ENSG00000196628:ENST00000354452:exon7:c.G498C:p.M166I;ENSG00000196628:ENST00000566286:exon6:c.G492C:p.M164I;ENSG00000196628:ENST00000566514:exon6:c.G426C:p.M142I;ENSG00000196628:ENST00000356073:exon7:c.G498C:p.M166I;ENSG00000196628:ENST00000543082:exon5:c.G372C:p.M124I;ENSG00000196628:ENST00000562607:exon2:c.G108C:p.M36I;ENSG00000196628:ENST00000544241:exon3:c.G285C:p.M95I;ENSG00000196628:ENST00000537578:exon6:c.G426C:p.M142I;ENSG00000196628:ENST00000563888:exon6:c.G426C:p.M142I;ENSG00000196628:ENST00000564403:exon7:c.G498C:p.M166I;ENSG00000196628:ENST00000570177:exon2:c.G108C:p.M36I;ENSG00000196628:ENST00000563824:exon5:c.G426C:p.M142I;ENSG00000196628:ENST00000569012:exon2:c.G108C:p.M36I;ENSG00000196628:ENST00000565908:exon6:c.G426C:p.M142I;ENSG00000196628:ENST00000568673:exon6:c.G426C:p.M142I;ENSG00000196628:ENST00000540999:exon6:c.G426C:p.M142I;ENSG00000196628:ENST00000566777:exon3:c.G108C:p.M36I;ENSG00000196628:ENST00000537856:exon2:c.G108C:p.M36I;ENSG00000196628:ENST00000398339:exon8:c.G804C:p.M268I;ENSG00000196628:ENST00000564228:exon3:c.G285C:p.M95I;	0.0145491807307554	0.074
18	53018106	C	T	18	55350875	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.G372A:p.M124I;TCF4:NM_003199:exon7:c.G498A:p.M166I;TCF4:NM_001243230:exon6:c.G492A:p.M164I;TCF4:NM_001243232:exon3:c.G285A:p.M95I;TCF4:NM_001083962:exon7:c.G498A:p.M166I;TCF4:NM_001243227:exon6:c.G426A:p.M142I;TCF4:NM_001243226:exon8:c.G804A:p.M268I;TCF4:NM_001243228:exon7:c.G498A:p.M166I;TCF4:NM_001243233:exon3:c.G108A:p.M36I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon2:c.G108A:p.M36I;ENSG00000196628:ENST00000562638:exon2:c.G108A:p.M36I;ENSG00000196628:ENST00000590810:exon2:c.G108A:p.M36I;ENSG00000196628:ENST00000568169:exon6:c.G510A:p.M170I;ENSG00000196628:ENST00000564999:exon7:c.G498A:p.M166I;ENSG00000196628:ENST00000568740:exon6:c.G423A:p.M141I;ENSG00000196628:ENST00000568186:exon2:c.G108A:p.M36I;ENSG00000196628:ENST00000561992:exon3:c.G108A:p.M36I;ENSG00000196628:ENST00000562512:exon3:c.G108A:p.M36I;ENSG00000196628:ENST00000565018:exon7:c.G498A:p.M166I;ENSG00000196628:ENST00000568147:exon6:c.G426A:p.M142I;ENSG00000196628:ENST00000354452:exon7:c.G498A:p.M166I;ENSG00000196628:ENST00000566286:exon6:c.G492A:p.M164I;ENSG00000196628:ENST00000566514:exon6:c.G426A:p.M142I;ENSG00000196628:ENST00000356073:exon7:c.G498A:p.M166I;ENSG00000196628:ENST00000543082:exon5:c.G372A:p.M124I;ENSG00000196628:ENST00000562607:exon2:c.G108A:p.M36I;ENSG00000196628:ENST00000544241:exon3:c.G285A:p.M95I;ENSG00000196628:ENST00000537578:exon6:c.G426A:p.M142I;ENSG00000196628:ENST00000563888:exon6:c.G426A:p.M142I;ENSG00000196628:ENST00000564403:exon7:c.G498A:p.M166I;ENSG00000196628:ENST00000570177:exon2:c.G108A:p.M36I;ENSG00000196628:ENST00000563824:exon5:c.G426A:p.M142I;ENSG00000196628:ENST00000569012:exon2:c.G108A:p.M36I;ENSG00000196628:ENST00000565908:exon6:c.G426A:p.M142I;ENSG00000196628:ENST00000568673:exon6:c.G426A:p.M142I;ENSG00000196628:ENST00000540999:exon6:c.G426A:p.M142I;ENSG00000196628:ENST00000566777:exon3:c.G108A:p.M36I;ENSG00000196628:ENST00000537856:exon2:c.G108A:p.M36I;ENSG00000196628:ENST00000398339:exon8:c.G804A:p.M268I;ENSG00000196628:ENST00000564228:exon3:c.G285A:p.M95I;	0.00611699262197174	0.09
18	53018107	A	C	18	55350876	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.T371G:p.M124R;TCF4:NM_003199:exon7:c.T497G:p.M166R;TCF4:NM_001243230:exon6:c.T491G:p.M164R;TCF4:NM_001243232:exon3:c.T284G:p.M95R;TCF4:NM_001083962:exon7:c.T497G:p.M166R;TCF4:NM_001243227:exon6:c.T425G:p.M142R;TCF4:NM_001243226:exon8:c.T803G:p.M268R;TCF4:NM_001243228:exon7:c.T497G:p.M166R;TCF4:NM_001243233:exon3:c.T107G:p.M36R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon2:c.T107G:p.M36R;ENSG00000196628:ENST00000562638:exon2:c.T107G:p.M36R;ENSG00000196628:ENST00000590810:exon2:c.T107G:p.M36R;ENSG00000196628:ENST00000568169:exon6:c.T509G:p.M170R;ENSG00000196628:ENST00000564999:exon7:c.T497G:p.M166R;ENSG00000196628:ENST00000568740:exon6:c.T422G:p.M141R;ENSG00000196628:ENST00000568186:exon2:c.T107G:p.M36R;ENSG00000196628:ENST00000561992:exon3:c.T107G:p.M36R;ENSG00000196628:ENST00000562512:exon3:c.T107G:p.M36R;ENSG00000196628:ENST00000565018:exon7:c.T497G:p.M166R;ENSG00000196628:ENST00000568147:exon6:c.T425G:p.M142R;ENSG00000196628:ENST00000354452:exon7:c.T497G:p.M166R;ENSG00000196628:ENST00000566286:exon6:c.T491G:p.M164R;ENSG00000196628:ENST00000566514:exon6:c.T425G:p.M142R;ENSG00000196628:ENST00000356073:exon7:c.T497G:p.M166R;ENSG00000196628:ENST00000543082:exon5:c.T371G:p.M124R;ENSG00000196628:ENST00000562607:exon2:c.T107G:p.M36R;ENSG00000196628:ENST00000544241:exon3:c.T284G:p.M95R;ENSG00000196628:ENST00000537578:exon6:c.T425G:p.M142R;ENSG00000196628:ENST00000563888:exon6:c.T425G:p.M142R;ENSG00000196628:ENST00000564403:exon7:c.T497G:p.M166R;ENSG00000196628:ENST00000570177:exon2:c.T107G:p.M36R;ENSG00000196628:ENST00000563824:exon5:c.T425G:p.M142R;ENSG00000196628:ENST00000569012:exon2:c.T107G:p.M36R;ENSG00000196628:ENST00000565908:exon6:c.T425G:p.M142R;ENSG00000196628:ENST00000568673:exon6:c.T425G:p.M142R;ENSG00000196628:ENST00000540999:exon6:c.T425G:p.M142R;ENSG00000196628:ENST00000566777:exon3:c.T107G:p.M36R;ENSG00000196628:ENST00000537856:exon2:c.T107G:p.M36R;ENSG00000196628:ENST00000398339:exon8:c.T803G:p.M268R;ENSG00000196628:ENST00000564228:exon3:c.T284G:p.M95R;	0.0117247246080929	0.12
18	53018107	A	G	18	55350876	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.T371C:p.M124T;TCF4:NM_003199:exon7:c.T497C:p.M166T;TCF4:NM_001243230:exon6:c.T491C:p.M164T;TCF4:NM_001243232:exon3:c.T284C:p.M95T;TCF4:NM_001083962:exon7:c.T497C:p.M166T;TCF4:NM_001243227:exon6:c.T425C:p.M142T;TCF4:NM_001243226:exon8:c.T803C:p.M268T;TCF4:NM_001243228:exon7:c.T497C:p.M166T;TCF4:NM_001243233:exon3:c.T107C:p.M36T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon2:c.T107C:p.M36T;ENSG00000196628:ENST00000562638:exon2:c.T107C:p.M36T;ENSG00000196628:ENST00000590810:exon2:c.T107C:p.M36T;ENSG00000196628:ENST00000568169:exon6:c.T509C:p.M170T;ENSG00000196628:ENST00000564999:exon7:c.T497C:p.M166T;ENSG00000196628:ENST00000568740:exon6:c.T422C:p.M141T;ENSG00000196628:ENST00000568186:exon2:c.T107C:p.M36T;ENSG00000196628:ENST00000561992:exon3:c.T107C:p.M36T;ENSG00000196628:ENST00000562512:exon3:c.T107C:p.M36T;ENSG00000196628:ENST00000565018:exon7:c.T497C:p.M166T;ENSG00000196628:ENST00000568147:exon6:c.T425C:p.M142T;ENSG00000196628:ENST00000354452:exon7:c.T497C:p.M166T;ENSG00000196628:ENST00000566286:exon6:c.T491C:p.M164T;ENSG00000196628:ENST00000566514:exon6:c.T425C:p.M142T;ENSG00000196628:ENST00000356073:exon7:c.T497C:p.M166T;ENSG00000196628:ENST00000543082:exon5:c.T371C:p.M124T;ENSG00000196628:ENST00000562607:exon2:c.T107C:p.M36T;ENSG00000196628:ENST00000544241:exon3:c.T284C:p.M95T;ENSG00000196628:ENST00000537578:exon6:c.T425C:p.M142T;ENSG00000196628:ENST00000563888:exon6:c.T425C:p.M142T;ENSG00000196628:ENST00000564403:exon7:c.T497C:p.M166T;ENSG00000196628:ENST00000570177:exon2:c.T107C:p.M36T;ENSG00000196628:ENST00000563824:exon5:c.T425C:p.M142T;ENSG00000196628:ENST00000569012:exon2:c.T107C:p.M36T;ENSG00000196628:ENST00000565908:exon6:c.T425C:p.M142T;ENSG00000196628:ENST00000568673:exon6:c.T425C:p.M142T;ENSG00000196628:ENST00000540999:exon6:c.T425C:p.M142T;ENSG00000196628:ENST00000566777:exon3:c.T107C:p.M36T;ENSG00000196628:ENST00000537856:exon2:c.T107C:p.M36T;ENSG00000196628:ENST00000398339:exon8:c.T803C:p.M268T;ENSG00000196628:ENST00000564228:exon3:c.T284C:p.M95T;	2.65974392554685E-4	0.006
18	53018107	A	T	18	55350876	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.T371A:p.M124K;TCF4:NM_003199:exon7:c.T497A:p.M166K;TCF4:NM_001243230:exon6:c.T491A:p.M164K;TCF4:NM_001243232:exon3:c.T284A:p.M95K;TCF4:NM_001083962:exon7:c.T497A:p.M166K;TCF4:NM_001243227:exon6:c.T425A:p.M142K;TCF4:NM_001243226:exon8:c.T803A:p.M268K;TCF4:NM_001243228:exon7:c.T497A:p.M166K;TCF4:NM_001243233:exon3:c.T107A:p.M36K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000562030:exon2:c.T107A:p.M36K;ENSG00000196628:ENST00000562638:exon2:c.T107A:p.M36K;ENSG00000196628:ENST00000590810:exon2:c.T107A:p.M36K;ENSG00000196628:ENST00000568169:exon6:c.T509A:p.M170K;ENSG00000196628:ENST00000564999:exon7:c.T497A:p.M166K;ENSG00000196628:ENST00000568740:exon6:c.T422A:p.M141K;ENSG00000196628:ENST00000568186:exon2:c.T107A:p.M36K;ENSG00000196628:ENST00000561992:exon3:c.T107A:p.M36K;ENSG00000196628:ENST00000562512:exon3:c.T107A:p.M36K;ENSG00000196628:ENST00000565018:exon7:c.T497A:p.M166K;ENSG00000196628:ENST00000568147:exon6:c.T425A:p.M142K;ENSG00000196628:ENST00000354452:exon7:c.T497A:p.M166K;ENSG00000196628:ENST00000566286:exon6:c.T491A:p.M164K;ENSG00000196628:ENST00000566514:exon6:c.T425A:p.M142K;ENSG00000196628:ENST00000356073:exon7:c.T497A:p.M166K;ENSG00000196628:ENST00000543082:exon5:c.T371A:p.M124K;ENSG00000196628:ENST00000562607:exon2:c.T107A:p.M36K;ENSG00000196628:ENST00000544241:exon3:c.T284A:p.M95K;ENSG00000196628:ENST00000537578:exon6:c.T425A:p.M142K;ENSG00000196628:ENST00000563888:exon6:c.T425A:p.M142K;ENSG00000196628:ENST00000564403:exon7:c.T497A:p.M166K;ENSG00000196628:ENST00000570177:exon2:c.T107A:p.M36K;ENSG00000196628:ENST00000563824:exon5:c.T425A:p.M142K;ENSG00000196628:ENST00000569012:exon2:c.T107A:p.M36K;ENSG00000196628:ENST00000565908:exon6:c.T425A:p.M142K;ENSG00000196628:ENST00000568673:exon6:c.T425A:p.M142K;ENSG00000196628:ENST00000540999:exon6:c.T425A:p.M142K;ENSG00000196628:ENST00000566777:exon3:c.T107A:p.M36K;ENSG00000196628:ENST00000537856:exon2:c.T107A:p.M36K;ENSG00000196628:ENST00000398339:exon8:c.T803A:p.M268K;ENSG00000196628:ENST00000564228:exon3:c.T284A:p.M95K;	0.0031027471708371	0.05
18	53018233	T	A	18	55351002	y	y	exonic;splicing	TCF4;TCF4(NM_001243232:exon4:c.160-2A>T)	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.A245T:p.Q82L;TCF4:NM_003199:exon7:c.A371T:p.Q124L;TCF4:NM_001243230:exon6:c.A365T:p.Q122L;TCF4:NM_001083962:exon7:c.A371T:p.Q124L;TCF4:NM_001243227:exon6:c.A299T:p.Q100L;TCF4:NM_001243226:exon8:c.A677T:p.Q226L;TCF4:NM_001243228:exon7:c.A371T:p.Q124L;	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000568740:exon7:c.298-2A>T;ENST00000544241:exon4:c.160-2A>T;ENST00000564228:exon4:c.160-2A>T)	nonsynonymous SNV	ENSG00000196628:ENST00000568169:exon6:c.A383T:p.Q128L;ENSG00000196628:ENST00000564999:exon7:c.A371T:p.Q124L;ENSG00000196628:ENST00000565018:exon7:c.A371T:p.Q124L;ENSG00000196628:ENST00000568147:exon6:c.A299T:p.Q100L;ENSG00000196628:ENST00000354452:exon7:c.A371T:p.Q124L;ENSG00000196628:ENST00000566286:exon6:c.A365T:p.Q122L;ENSG00000196628:ENST00000566514:exon6:c.A299T:p.Q100L;ENSG00000196628:ENST00000356073:exon7:c.A371T:p.Q124L;ENSG00000196628:ENST00000564343:exon6:c.A299T:p.Q100L;ENSG00000196628:ENST00000562543:exon7:c.A371T:p.Q124L;ENSG00000196628:ENST00000543082:exon5:c.A245T:p.Q82L;ENSG00000196628:ENST00000562847:exon7:c.A134T:p.Q45L;ENSG00000196628:ENST00000537578:exon6:c.A299T:p.Q100L;ENSG00000196628:ENST00000563888:exon6:c.A299T:p.Q100L;ENSG00000196628:ENST00000564403:exon7:c.A371T:p.Q124L;ENSG00000196628:ENST00000563824:exon5:c.A299T:p.Q100L;ENSG00000196628:ENST00000565908:exon6:c.A299T:p.Q100L;ENSG00000196628:ENST00000568673:exon6:c.A299T:p.Q100L;ENSG00000196628:ENST00000540999:exon6:c.A299T:p.Q100L;ENSG00000196628:ENST00000398339:exon8:c.A677T:p.Q226L;	0.857963631207944	0.61
18	53018233	T	C	18	55351002	y	y	exonic;splicing	TCF4;TCF4(NM_001243232:exon4:c.160-2A>G)	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.A245G:p.Q82R;TCF4:NM_003199:exon7:c.A371G:p.Q124R;TCF4:NM_001243230:exon6:c.A365G:p.Q122R;TCF4:NM_001083962:exon7:c.A371G:p.Q124R;TCF4:NM_001243227:exon6:c.A299G:p.Q100R;TCF4:NM_001243226:exon8:c.A677G:p.Q226R;TCF4:NM_001243228:exon7:c.A371G:p.Q124R;	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000568740:exon7:c.298-2A>G;ENST00000544241:exon4:c.160-2A>G;ENST00000564228:exon4:c.160-2A>G)	nonsynonymous SNV	ENSG00000196628:ENST00000568169:exon6:c.A383G:p.Q128R;ENSG00000196628:ENST00000564999:exon7:c.A371G:p.Q124R;ENSG00000196628:ENST00000565018:exon7:c.A371G:p.Q124R;ENSG00000196628:ENST00000568147:exon6:c.A299G:p.Q100R;ENSG00000196628:ENST00000354452:exon7:c.A371G:p.Q124R;ENSG00000196628:ENST00000566286:exon6:c.A365G:p.Q122R;ENSG00000196628:ENST00000566514:exon6:c.A299G:p.Q100R;ENSG00000196628:ENST00000356073:exon7:c.A371G:p.Q124R;ENSG00000196628:ENST00000564343:exon6:c.A299G:p.Q100R;ENSG00000196628:ENST00000562543:exon7:c.A371G:p.Q124R;ENSG00000196628:ENST00000543082:exon5:c.A245G:p.Q82R;ENSG00000196628:ENST00000562847:exon7:c.A134G:p.Q45R;ENSG00000196628:ENST00000537578:exon6:c.A299G:p.Q100R;ENSG00000196628:ENST00000563888:exon6:c.A299G:p.Q100R;ENSG00000196628:ENST00000564403:exon7:c.A371G:p.Q124R;ENSG00000196628:ENST00000563824:exon5:c.A299G:p.Q100R;ENSG00000196628:ENST00000565908:exon6:c.A299G:p.Q100R;ENSG00000196628:ENST00000568673:exon6:c.A299G:p.Q100R;ENSG00000196628:ENST00000540999:exon6:c.A299G:p.Q100R;ENSG00000196628:ENST00000398339:exon8:c.A677G:p.Q226R;	0.831859161158979	0.614
18	53018233	T	G	18	55351002	y	y	exonic;splicing	TCF4;TCF4(NM_001243232:exon4:c.160-2A>C)	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.A245C:p.Q82P;TCF4:NM_003199:exon7:c.A371C:p.Q124P;TCF4:NM_001243230:exon6:c.A365C:p.Q122P;TCF4:NM_001083962:exon7:c.A371C:p.Q124P;TCF4:NM_001243227:exon6:c.A299C:p.Q100P;TCF4:NM_001243226:exon8:c.A677C:p.Q226P;TCF4:NM_001243228:exon7:c.A371C:p.Q124P;	exonic;splicing	ENSG00000196628;ENSG00000196628(ENST00000568740:exon7:c.298-2A>C;ENST00000544241:exon4:c.160-2A>C;ENST00000564228:exon4:c.160-2A>C)	nonsynonymous SNV	ENSG00000196628:ENST00000568169:exon6:c.A383C:p.Q128P;ENSG00000196628:ENST00000564999:exon7:c.A371C:p.Q124P;ENSG00000196628:ENST00000565018:exon7:c.A371C:p.Q124P;ENSG00000196628:ENST00000568147:exon6:c.A299C:p.Q100P;ENSG00000196628:ENST00000354452:exon7:c.A371C:p.Q124P;ENSG00000196628:ENST00000566286:exon6:c.A365C:p.Q122P;ENSG00000196628:ENST00000566514:exon6:c.A299C:p.Q100P;ENSG00000196628:ENST00000356073:exon7:c.A371C:p.Q124P;ENSG00000196628:ENST00000564343:exon6:c.A299C:p.Q100P;ENSG00000196628:ENST00000562543:exon7:c.A371C:p.Q124P;ENSG00000196628:ENST00000543082:exon5:c.A245C:p.Q82P;ENSG00000196628:ENST00000562847:exon7:c.A134C:p.Q45P;ENSG00000196628:ENST00000537578:exon6:c.A299C:p.Q100P;ENSG00000196628:ENST00000563888:exon6:c.A299C:p.Q100P;ENSG00000196628:ENST00000564403:exon7:c.A371C:p.Q124P;ENSG00000196628:ENST00000563824:exon5:c.A299C:p.Q100P;ENSG00000196628:ENST00000565908:exon6:c.A299C:p.Q100P;ENSG00000196628:ENST00000568673:exon6:c.A299C:p.Q100P;ENSG00000196628:ENST00000540999:exon6:c.A299C:p.Q100P;ENSG00000196628:ENST00000398339:exon8:c.A677C:p.Q226P;	0.822189617322999	0.758
18	53018234	G	A	18	55351003	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243231:exon5:c.C244T:p.Q82X;TCF4:NM_003199:exon7:c.C370T:p.Q124X;TCF4:NM_001243230:exon6:c.C364T:p.Q122X;TCF4:NM_001083962:exon7:c.C370T:p.Q124X;TCF4:NM_001243227:exon6:c.C298T:p.Q100X;TCF4:NM_001243226:exon8:c.C676T:p.Q226X;TCF4:NM_001243228:exon7:c.C370T:p.Q124X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000568169:exon6:c.C382T:p.Q128X;ENSG00000196628:ENST00000564999:exon7:c.C370T:p.Q124X;ENSG00000196628:ENST00000565018:exon7:c.C370T:p.Q124X;ENSG00000196628:ENST00000568147:exon6:c.C298T:p.Q100X;ENSG00000196628:ENST00000354452:exon7:c.C370T:p.Q124X;ENSG00000196628:ENST00000566286:exon6:c.C364T:p.Q122X;ENSG00000196628:ENST00000566514:exon6:c.C298T:p.Q100X;ENSG00000196628:ENST00000356073:exon7:c.C370T:p.Q124X;ENSG00000196628:ENST00000564343:exon6:c.C298T:p.Q100X;ENSG00000196628:ENST00000562543:exon7:c.C370T:p.Q124X;ENSG00000196628:ENST00000543082:exon5:c.C244T:p.Q82X;ENSG00000196628:ENST00000562847:exon7:c.C133T:p.Q45X;ENSG00000196628:ENST00000537578:exon6:c.C298T:p.Q100X;ENSG00000196628:ENST00000563888:exon6:c.C298T:p.Q100X;ENSG00000196628:ENST00000564403:exon7:c.C370T:p.Q124X;ENSG00000196628:ENST00000563824:exon5:c.C298T:p.Q100X;ENSG00000196628:ENST00000565908:exon6:c.C298T:p.Q100X;ENSG00000196628:ENST00000568673:exon6:c.C298T:p.Q100X;ENSG00000196628:ENST00000540999:exon6:c.C298T:p.Q100X;ENSG00000196628:ENST00000398339:exon8:c.C676T:p.Q226X;	0.99636469675433	0.952
18	53018234	G	C	18	55351003	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.C244G:p.Q82E;TCF4:NM_003199:exon7:c.C370G:p.Q124E;TCF4:NM_001243230:exon6:c.C364G:p.Q122E;TCF4:NM_001083962:exon7:c.C370G:p.Q124E;TCF4:NM_001243227:exon6:c.C298G:p.Q100E;TCF4:NM_001243226:exon8:c.C676G:p.Q226E;TCF4:NM_001243228:exon7:c.C370G:p.Q124E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000568169:exon6:c.C382G:p.Q128E;ENSG00000196628:ENST00000564999:exon7:c.C370G:p.Q124E;ENSG00000196628:ENST00000565018:exon7:c.C370G:p.Q124E;ENSG00000196628:ENST00000568147:exon6:c.C298G:p.Q100E;ENSG00000196628:ENST00000354452:exon7:c.C370G:p.Q124E;ENSG00000196628:ENST00000566286:exon6:c.C364G:p.Q122E;ENSG00000196628:ENST00000566514:exon6:c.C298G:p.Q100E;ENSG00000196628:ENST00000356073:exon7:c.C370G:p.Q124E;ENSG00000196628:ENST00000564343:exon6:c.C298G:p.Q100E;ENSG00000196628:ENST00000562543:exon7:c.C370G:p.Q124E;ENSG00000196628:ENST00000543082:exon5:c.C244G:p.Q82E;ENSG00000196628:ENST00000562847:exon7:c.C133G:p.Q45E;ENSG00000196628:ENST00000537578:exon6:c.C298G:p.Q100E;ENSG00000196628:ENST00000563888:exon6:c.C298G:p.Q100E;ENSG00000196628:ENST00000564403:exon7:c.C370G:p.Q124E;ENSG00000196628:ENST00000563824:exon5:c.C298G:p.Q100E;ENSG00000196628:ENST00000565908:exon6:c.C298G:p.Q100E;ENSG00000196628:ENST00000568673:exon6:c.C298G:p.Q100E;ENSG00000196628:ENST00000540999:exon6:c.C298G:p.Q100E;ENSG00000196628:ENST00000398339:exon8:c.C676G:p.Q226E;	0.013477442994914	0.118
18	53018234	G	T	18	55351003	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon5:c.C244A:p.Q82K;TCF4:NM_003199:exon7:c.C370A:p.Q124K;TCF4:NM_001243230:exon6:c.C364A:p.Q122K;TCF4:NM_001083962:exon7:c.C370A:p.Q124K;TCF4:NM_001243227:exon6:c.C298A:p.Q100K;TCF4:NM_001243226:exon8:c.C676A:p.Q226K;TCF4:NM_001243228:exon7:c.C370A:p.Q124K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000568169:exon6:c.C382A:p.Q128K;ENSG00000196628:ENST00000564999:exon7:c.C370A:p.Q124K;ENSG00000196628:ENST00000565018:exon7:c.C370A:p.Q124K;ENSG00000196628:ENST00000568147:exon6:c.C298A:p.Q100K;ENSG00000196628:ENST00000354452:exon7:c.C370A:p.Q124K;ENSG00000196628:ENST00000566286:exon6:c.C364A:p.Q122K;ENSG00000196628:ENST00000566514:exon6:c.C298A:p.Q100K;ENSG00000196628:ENST00000356073:exon7:c.C370A:p.Q124K;ENSG00000196628:ENST00000564343:exon6:c.C298A:p.Q100K;ENSG00000196628:ENST00000562543:exon7:c.C370A:p.Q124K;ENSG00000196628:ENST00000543082:exon5:c.C244A:p.Q82K;ENSG00000196628:ENST00000562847:exon7:c.C133A:p.Q45K;ENSG00000196628:ENST00000537578:exon6:c.C298A:p.Q100K;ENSG00000196628:ENST00000563888:exon6:c.C298A:p.Q100K;ENSG00000196628:ENST00000564403:exon7:c.C370A:p.Q124K;ENSG00000196628:ENST00000563824:exon5:c.C298A:p.Q100K;ENSG00000196628:ENST00000565908:exon6:c.C298A:p.Q100K;ENSG00000196628:ENST00000568673:exon6:c.C298A:p.Q100K;ENSG00000196628:ENST00000540999:exon6:c.C298A:p.Q100K;ENSG00000196628:ENST00000398339:exon8:c.C676A:p.Q226K;	0.574430014178617	0.492
18	53018235	C	A	18	55351004	y	y	splicing	TCF4(NM_001243226:exon9:c.676-1G>T;NM_001243230:exon7:c.364-1G>T;NM_001083962:exon8:c.370-1G>T;NM_003199:exon8:c.370-1G>T;NM_001243231:exon6:c.244-1G>T;NM_001243228:exon8:c.370-1G>T;NM_001243227:exon7:c.298-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.370-1G>T;ENST00000356073:exon8:c.370-1G>T;ENST00000568673:exon7:c.298-1G>T;ENST00000543082:exon6:c.244-1G>T;ENST00000540999:exon7:c.298-1G>T;ENST00000537578:exon7:c.298-1G>T;ENST00000564999:exon8:c.370-1G>T;ENST00000565018:exon8:c.370-1G>T;ENST00000566286:exon7:c.364-1G>T;ENST00000398339:exon9:c.676-1G>T;ENST00000564403:exon8:c.370-1G>T;ENST00000566514:exon7:c.298-1G>T;ENST00000568169:exon7:c.382-1G>T;ENST00000565908:exon7:c.298-1G>T;ENST00000563824:exon6:c.298-1G>T;ENST00000568147:exon7:c.298-1G>T;ENST00000563888:exon7:c.298-1G>T;ENST00000564343:exon7:c.298-1G>T;ENST00000562543:exon8:c.370-1G>T;ENST00000562847:exon8:c.133-1G>T)	.	.	0.999990361384395	0.948
18	53018235	C	G	18	55351004	y	y	splicing	TCF4(NM_001243226:exon9:c.676-1G>C;NM_001243230:exon7:c.364-1G>C;NM_001083962:exon8:c.370-1G>C;NM_003199:exon8:c.370-1G>C;NM_001243231:exon6:c.244-1G>C;NM_001243228:exon8:c.370-1G>C;NM_001243227:exon7:c.298-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.370-1G>C;ENST00000356073:exon8:c.370-1G>C;ENST00000568673:exon7:c.298-1G>C;ENST00000543082:exon6:c.244-1G>C;ENST00000540999:exon7:c.298-1G>C;ENST00000537578:exon7:c.298-1G>C;ENST00000564999:exon8:c.370-1G>C;ENST00000565018:exon8:c.370-1G>C;ENST00000566286:exon7:c.364-1G>C;ENST00000398339:exon9:c.676-1G>C;ENST00000564403:exon8:c.370-1G>C;ENST00000566514:exon7:c.298-1G>C;ENST00000568169:exon7:c.382-1G>C;ENST00000565908:exon7:c.298-1G>C;ENST00000563824:exon6:c.298-1G>C;ENST00000568147:exon7:c.298-1G>C;ENST00000563888:exon7:c.298-1G>C;ENST00000564343:exon7:c.298-1G>C;ENST00000562543:exon8:c.370-1G>C;ENST00000562847:exon8:c.133-1G>C)	.	.	0.999982737877662	0.948
18	53018235	C	T	18	55351004	y	y	splicing	TCF4(NM_001243226:exon9:c.676-1G>A;NM_001243230:exon7:c.364-1G>A;NM_001083962:exon8:c.370-1G>A;NM_003199:exon8:c.370-1G>A;NM_001243231:exon6:c.244-1G>A;NM_001243228:exon8:c.370-1G>A;NM_001243227:exon7:c.298-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.370-1G>A;ENST00000356073:exon8:c.370-1G>A;ENST00000568673:exon7:c.298-1G>A;ENST00000543082:exon6:c.244-1G>A;ENST00000540999:exon7:c.298-1G>A;ENST00000537578:exon7:c.298-1G>A;ENST00000564999:exon8:c.370-1G>A;ENST00000565018:exon8:c.370-1G>A;ENST00000566286:exon7:c.364-1G>A;ENST00000398339:exon9:c.676-1G>A;ENST00000564403:exon8:c.370-1G>A;ENST00000566514:exon7:c.298-1G>A;ENST00000568169:exon7:c.382-1G>A;ENST00000565908:exon7:c.298-1G>A;ENST00000563824:exon6:c.298-1G>A;ENST00000568147:exon7:c.298-1G>A;ENST00000563888:exon7:c.298-1G>A;ENST00000564343:exon7:c.298-1G>A;ENST00000562543:exon8:c.370-1G>A;ENST00000562847:exon8:c.133-1G>A)	.	.	0.999990361384395	0.948
18	53018236	T	A	18	55351005	y	y	splicing	TCF4(NM_001243226:exon9:c.676-2A>T;NM_001243230:exon7:c.364-2A>T;NM_001083962:exon8:c.370-2A>T;NM_003199:exon8:c.370-2A>T;NM_001243231:exon6:c.244-2A>T;NM_001243228:exon8:c.370-2A>T;NM_001243227:exon7:c.298-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.370-2A>T;ENST00000356073:exon8:c.370-2A>T;ENST00000568673:exon7:c.298-2A>T;ENST00000543082:exon6:c.244-2A>T;ENST00000540999:exon7:c.298-2A>T;ENST00000537578:exon7:c.298-2A>T;ENST00000564999:exon8:c.370-2A>T;ENST00000565018:exon8:c.370-2A>T;ENST00000566286:exon7:c.364-2A>T;ENST00000398339:exon9:c.676-2A>T;ENST00000564403:exon8:c.370-2A>T;ENST00000566514:exon7:c.298-2A>T;ENST00000568169:exon7:c.382-2A>T;ENST00000565908:exon7:c.298-2A>T;ENST00000563824:exon6:c.298-2A>T;ENST00000568147:exon7:c.298-2A>T;ENST00000563888:exon7:c.298-2A>T;ENST00000564343:exon7:c.298-2A>T;ENST00000562543:exon8:c.370-2A>T;ENST00000562847:exon8:c.133-2A>T)	.	.	0.999988247793601	0.948
18	53018236	T	C	18	55351005	y	y	splicing	TCF4(NM_001243226:exon9:c.676-2A>G;NM_001243230:exon7:c.364-2A>G;NM_001083962:exon8:c.370-2A>G;NM_003199:exon8:c.370-2A>G;NM_001243231:exon6:c.244-2A>G;NM_001243228:exon8:c.370-2A>G;NM_001243227:exon7:c.298-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.370-2A>G;ENST00000356073:exon8:c.370-2A>G;ENST00000568673:exon7:c.298-2A>G;ENST00000543082:exon6:c.244-2A>G;ENST00000540999:exon7:c.298-2A>G;ENST00000537578:exon7:c.298-2A>G;ENST00000564999:exon8:c.370-2A>G;ENST00000565018:exon8:c.370-2A>G;ENST00000566286:exon7:c.364-2A>G;ENST00000398339:exon9:c.676-2A>G;ENST00000564403:exon8:c.370-2A>G;ENST00000566514:exon7:c.298-2A>G;ENST00000568169:exon7:c.382-2A>G;ENST00000565908:exon7:c.298-2A>G;ENST00000563824:exon6:c.298-2A>G;ENST00000568147:exon7:c.298-2A>G;ENST00000563888:exon7:c.298-2A>G;ENST00000564343:exon7:c.298-2A>G;ENST00000562543:exon8:c.370-2A>G;ENST00000562847:exon8:c.133-2A>G)	.	.	0.999978952611685	0.948
18	53018236	T	G	18	55351005	y	y	splicing	TCF4(NM_001243226:exon9:c.676-2A>C;NM_001243230:exon7:c.364-2A>C;NM_001083962:exon8:c.370-2A>C;NM_003199:exon8:c.370-2A>C;NM_001243231:exon6:c.244-2A>C;NM_001243228:exon8:c.370-2A>C;NM_001243227:exon7:c.298-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon8:c.370-2A>C;ENST00000356073:exon8:c.370-2A>C;ENST00000568673:exon7:c.298-2A>C;ENST00000543082:exon6:c.244-2A>C;ENST00000540999:exon7:c.298-2A>C;ENST00000537578:exon7:c.298-2A>C;ENST00000564999:exon8:c.370-2A>C;ENST00000565018:exon8:c.370-2A>C;ENST00000566286:exon7:c.364-2A>C;ENST00000398339:exon9:c.676-2A>C;ENST00000564403:exon8:c.370-2A>C;ENST00000566514:exon7:c.298-2A>C;ENST00000568169:exon7:c.382-2A>C;ENST00000565908:exon7:c.298-2A>C;ENST00000563824:exon6:c.298-2A>C;ENST00000568147:exon7:c.298-2A>C;ENST00000563888:exon7:c.298-2A>C;ENST00000564343:exon7:c.298-2A>C;ENST00000562543:exon8:c.370-2A>C;ENST00000562847:exon8:c.133-2A>C)	.	.	0.999978952611685	0.948
18	53018237	A	C	18	55351006	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.834617163455677	0.614
18	53018237	A	G	18	55351006	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.45388754831003E-5	0.02
18	53018237	A	T	18	55351006	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00280658990429458	0.198
18	53018238	A	C	18	55351007	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.30503201716732E-4	0.004
18	53018238	A	G	18	55351007	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.92503044182457E-5	0.002
18	53018238	A	T	18	55351007	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.98006210891815E-4	0.004
18	53018239	A	C	18	55351008	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.97656914684197	0.714
18	53018239	A	G	18	55351008	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.068608949110314	0.266
18	53018239	A	T	18	55351008	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.979232397197576	0.694
18	53018240	A	C	18	55351009	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.990442297278322	0.698
18	53018240	A	G	18	55351009	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00859437933845725	0.114
18	53018240	A	T	18	55351009	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.967545544361684	0.728
18	53018241	G	A	18	55351010	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.37413878995481E-4	0.004
18	53018241	G	C	18	55351010	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00748780025312342	0.148
18	53018241	G	T	18	55351010	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00770844052029065	0.15
18	53018242	G	A	18	55351011	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00278143502138417	0.074
18	53018242	G	C	18	55351011	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999965059771875	0.972
18	53018242	G	T	18	55351011	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.452714113912298	0.404
18	53018243	T	A	18	55351012	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0143813856544483	0.086
18	53018243	T	C	18	55351012	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999324730058749	0.962
18	53018243	T	G	18	55351012	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0116431892180976	0.086
18	53018244	T	A	18	55351013	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.31375417977189E-4	0.058
18	53018244	T	C	18	55351013	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.00441204999383E-4	0.008
18	53018244	T	G	18	55351013	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.99458346286427E-4	0.012
18	53018245	A	C	18	55351014	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.997839578991329	0.898
18	53018245	A	G	18	55351014	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.826960469971536	0.394
18	53018245	A	T	18	55351014	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998557660609362	0.886
18	53018246	A	C	18	55351015	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.874941111562637	0.66
18	53018246	A	G	18	55351015	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0290998250181008	0.122
18	53018246	A	T	18	55351015	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.979557834875471	0.78
18	53019018	A	C	18	55351787	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.05918261028706E-4	0.0
18	53019018	A	G	18	55351787	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.05918261028706E-4	0.0
18	53019018	A	T	18	55351787	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.73401366462724E-4	0.002
18	53019019	A	C	18	55351788	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00445622272127568	0.026
18	53019019	A	G	18	55351788	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00445622272127568	0.024
18	53019019	A	T	18	55351788	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00763559792386277	0.022
18	53019020	A	C	18	55351789	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00445622272127568	0.024
18	53019020	A	G	18	55351789	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00445622272127568	0.024
18	53019020	A	T	18	55351789	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00763559792386277	0.022
18	53019021	C	A	18	55351790	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.048
18	53019021	C	G	18	55351790	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0218013593461534	0.048
18	53019021	C	T	18	55351790	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.056
18	53019022	T	A	18	55351791	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00763559792386277	0.022
18	53019022	T	C	18	55351791	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00445622272127568	0.022
18	53019022	T	G	18	55351791	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00445622272127568	0.024
18	53019023	T	A	18	55351792	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.77282158008052E-4	0.002
18	53019023	T	C	18	55351792	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.6236468669626E-4	0.02
18	53019023	T	G	18	55351792	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.6236468669626E-4	0.014
18	53019024	A	C	18	55351793	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.399150606717926	0.556
18	53019024	A	G	18	55351793	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.399150606717926	0.552
18	53019024	A	T	18	55351793	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.492243215047834	0.676
18	53019025	C	A	18	55351794	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.986152223221829	0.862
18	53019025	C	G	18	55351794	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.972710711965371	0.814
18	53019025	C	T	18	55351794	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.986152223221829	0.856
18	53019026	C	A	18	55351795	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0410793819238282	0.06
18	53019026	C	G	18	55351795	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0243156145864903	0.068
18	53019026	C	T	18	55351795	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0357573328857635	0.056
18	53019027	C	A	18	55351796	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0243156145864903	0.076
18	53019027	C	G	18	55351796	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0243156145864903	0.06
18	53019027	C	T	18	55351796	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0410793819238282	0.058
18	53019028	A	C	18	55351797	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.022
18	53019028	A	G	18	55351797	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.02
18	53019028	A	T	18	55351797	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00763559792386277	0.022
18	53068224	T	A	18	55400993	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.61168083656048E-5	0.002
18	53068224	T	C	18	55400993	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.94596726999572E-5	0.002
18	53068224	T	G	18	55400993	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.94596726999572E-5	0.002
18	53068225	C	A	18	55400994	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0278602158370864	0.268
18	53068225	C	G	18	55400994	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0278602158370864	0.226
18	53068225	C	T	18	55400994	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0278602158370864	0.342
18	53068226	A	C	18	55400995	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.474349078336576	0.546
18	53068226	A	G	18	55400995	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.474349078336576	0.546
18	53068226	A	T	18	55400995	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.474349078336576	0.592
18	53068227	C	A	18	55400996	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.960668988587981	0.76
18	53068227	C	G	18	55400996	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.923645538223766	0.716
18	53068227	C	T	18	55400996	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.972710711965371	0.822
18	53068228	T	A	18	55400997	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.474349078336576	0.592
18	53068228	T	C	18	55400997	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.474349078336576	0.546
18	53068228	T	G	18	55400997	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.474349078336576	0.546
18	53068229	C	A	18	55400998	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.793118250434253	0.586
18	53068229	C	G	18	55400998	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.793118250434253	0.484
18	53068229	C	T	18	55400998	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.793118250434253	0.7
18	53068230	A	C	18	55400999	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.92961721136914	0.806
18	53068230	A	G	18	55400999	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.92961721136914	0.808
18	53068230	A	T	18	55400999	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.92961721136914	0.8
18	53068231	C	A	18	55401000	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.994463269283841	0.924
18	53068231	C	G	18	55401000	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.995030058536757	0.92
18	53068231	C	T	18	55401000	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.994463269283841	0.928
18	53068232	C	A	18	55401001	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.986152223221829	0.862
18	53068232	C	G	18	55401001	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.972710711965371	0.824
18	53068232	C	T	18	55401001	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.986152223221829	0.856
18	53068233	T	A	18	55401002	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0069180409540431	0.072
18	53068233	T	C	18	55401002	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00220285109689569	0.106
18	53068233	T	G	18	55401002	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00220285109689569	0.104
18	53068234	T	A	18	55401003	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.74217688214081E-5	0.006
18	53068234	T	C	18	55401003	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.14902156710097E-4	0.004
18	53068234	T	G	18	55401003	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.14902156710097E-4	0.004
18	53068723	A	C	18	55401492	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.21585938585243E-5	0.0
18	53068723	A	G	18	55401492	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.21585938585243E-5	0.0
18	53068723	A	T	18	55401492	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.32453395119965E-4	0.0
18	53068724	A	C	18	55401493	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.51591174045998E-4	0.006
18	53068724	A	G	18	55401493	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.51591174045998E-4	0.004
18	53068724	A	T	18	55401493	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.15928322694241E-4	0.002
18	53068725	A	C	18	55401494	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.44101454748109E-4	0.004
18	53068725	A	G	18	55401494	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.44101454748109E-4	0.004
18	53068725	A	T	18	55401494	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.38175242962214E-4	0.006
18	53068726	C	A	18	55401495	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.36389531769141E-5	0.002
18	53068726	C	G	18	55401495	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.36389531769141E-5	0.002
18	53068726	C	T	18	55401495	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.10673763910407E-5	0.006
18	53068727	G	A	18	55401496	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.96310068051395E-4	0.034
18	53068727	G	C	18	55401496	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.81980434129717E-4	0.036
18	53068727	G	T	18	55401496	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.65406329447109E-4	0.034
18	53068728	A	C	18	55401497	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.46892315219213E-4	0.006
18	53068728	A	G	18	55401497	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.46892315219213E-4	0.008
18	53068728	A	T	18	55401497	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.46892315219213E-4	0.008
18	53068729	A	C	18	55401498	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.38603341338827E-4	0.002
18	53068729	A	G	18	55401498	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.38603341338827E-4	0.002
18	53068729	A	T	18	55401498	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	9.71088654042677E-5	0.002
18	53068730	C	A	18	55401499	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.75289494538373E-5	0.002
18	53068730	C	G	18	55401499	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.75289494538373E-5	0.002
18	53068730	C	T	18	55401499	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	6.36567682305367E-5	0.002
18	53068731	C	A	18	55401500	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.793118250434253	0.7
18	53068731	C	G	18	55401500	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.793118250434253	0.586
18	53068731	C	T	18	55401500	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.920404914400224	0.686
18	53068732	T	A	18	55401501	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.70017511168701E-4	0.086
18	53068732	T	C	18	55401501	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.70017511168701E-4	0.054
18	53068732	T	G	18	55401501	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.70017511168701E-4	0.09
18	53068733	C	A	18	55401502	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.35516193859006E-4	0.002
18	53068733	C	G	18	55401502	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.49817874025862E-4	0.002
18	53068733	C	T	18	55401502	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.35516193859006E-4	0.002
18	53068803	C	A	18	55401572	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.90554931797843E-4	0.028
18	53068803	C	G	18	55401572	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.50277301090542E-4	0.006
18	53068803	C	T	18	55401572	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.90554931797843E-4	0.078
18	53068804	T	A	18	55401573	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.17528206778412E-4	0.012
18	53068804	T	C	18	55401573	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.35516193859006E-4	0.0
18	53068804	T	G	18	55401573	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.35516193859006E-4	0.0
18	53068805	T	A	18	55401574	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00211112801344148	0.06
18	53068805	T	C	18	55401574	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00211112801344148	0.046
18	53068805	T	G	18	55401574	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00211112801344148	0.046
18	53068806	C	A	18	55401575	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.972710711965371	0.812
18	53068806	C	G	18	55401575	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.960668988587981	0.736
18	53068806	C	T	18	55401575	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.972710711965371	0.824
18	53068807	T	A	18	55401576	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.024451511208118	0.204
18	53068807	T	C	18	55401576	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0069180409540431	0.09
18	53068807	T	G	18	55401576	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00785745390433112	0.118
18	53068808	C	A	18	55401577	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.992648088255867	0.86
18	53068808	C	G	18	55401577	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.992648088255867	0.854
18	53068808	C	T	18	55401577	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.993733916693694	0.87
18	53068809	A	C	18	55401578	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.942547716345633	0.846
18	53068809	A	G	18	55401578	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.942547716345633	0.846
18	53068809	A	T	18	55401578	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.942547716345633	0.856
18	53068810	C	A	18	55401579	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.45611331169849	0.596
18	53068810	C	G	18	55401579	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.45611331169849	0.552
18	53068810	C	T	18	55401579	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.45611331169849	0.608
18	53068811	C	A	18	55401580	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.993733916693694	0.874
18	53068811	C	G	18	55401580	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.993733916693694	0.866
18	53068811	C	T	18	55401580	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.993733916693694	0.87
18	53068812	T	A	18	55401581	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.92961721136914	0.766
18	53068812	T	C	18	55401581	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.92961721136914	0.78
18	53068812	T	G	18	55401581	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.92961721136914	0.776
18	53068813	T	A	18	55401582	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.15353272571419E-5	0.0
18	53068813	T	C	18	55401582	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.15353272571419E-5	0.0
18	53068813	T	G	18	55401582	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.15353272571419E-5	0.0
18	53068912	A	C	18	55401681	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00220285109689569	0.086
18	53068912	A	G	18	55401681	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00220285109689569	0.088
18	53068912	A	T	18	55401681	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0069180409540431	0.05
18	53068913	G	A	18	55401682	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.08821754560775E-4	0.008
18	53068913	G	C	18	55401682	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.08821754560775E-4	0.006
18	53068913	G	T	18	55401682	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.08821754560775E-4	0.006
18	53068914	A	C	18	55401683	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00220285109689569	0.122
18	53068914	A	G	18	55401683	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00220285109689569	0.132
18	53068914	A	T	18	55401683	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0069180409540431	0.078
18	53068915	C	A	18	55401684	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.793118250434253	0.686
18	53068915	C	G	18	55401684	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.793118250434253	0.576
18	53068915	C	T	18	55401684	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.920404914400224	0.706
18	53068916	T	A	18	55401685	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.474349078336576	0.588
18	53068916	T	C	18	55401685	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.325317064083526	0.582
18	53068916	T	G	18	55401685	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.325317064083526	0.576
18	53068917	C	A	18	55401686	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.0766334756523E-4	0.01
18	53068917	C	G	18	55401686	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.55400057430731E-4	0.012
18	53068917	C	T	18	55401686	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.67992730005182E-4	0.01
18	53068918	A	C	18	55401687	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.2208282427977E-4	0.002
18	53068918	A	G	18	55401687	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.2208282427977E-4	0.002
18	53068918	A	T	18	55401687	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	9.28852432169768E-5	0.004
18	53068919	C	A	18	55401688	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	9.77117267223877E-4	0.07
18	53068919	C	G	18	55401688	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.00108014123482236	0.068
18	53068919	C	T	18	55401688	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.00132980407127155	0.076
18	53068920	A	C	18	55401689	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.54506920366841E-5	0.054
18	53068920	A	G	18	55401689	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.54506920366841E-5	0.046
18	53068920	A	T	18	55401689	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.54506920366841E-5	0.032
18	53068921	C	A	18	55401690	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.41406964667218E-4	0.012
18	53068921	C	G	18	55401690	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.41406964667218E-4	0.01
18	53068921	C	T	18	55401690	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.08821754560775E-4	0.008
18	53068922	G	A	18	55401691	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.5129711405034E-5	0.002
18	53068922	G	C	18	55401691	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.25311932780605E-5	0.004
18	53068922	G	T	18	55401691	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.25311932780605E-5	0.004
18	53069278	G	A	18	55402047	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.092
18	53069278	G	C	18	55402047	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.084
18	53069278	G	T	18	55402047	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.084
18	53069279	C	A	18	55402048	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.084
18	53069279	C	G	18	55402048	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.08
18	53069279	C	T	18	55402048	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.092
18	53069280	A	C	18	55402049	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0117931559103126	0.03
18	53069280	A	G	18	55402049	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0117931559103126	0.03
18	53069280	A	T	18	55402049	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0122850908633762	0.032
18	53069281	C	A	18	55402050	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0218013593461534	0.072
18	53069281	C	G	18	55402050	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0218013593461534	0.07
18	53069281	C	T	18	55402050	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0218013593461534	0.076
18	53069282	T	A	18	55402051	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0122850908633762	0.032
18	53069282	T	C	18	55402051	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0117931559103126	0.028
18	53069282	T	G	18	55402051	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0117931559103126	0.03
18	53069283	C	A	18	55402052	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.078
18	53069283	C	G	18	55402052	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.076
18	53069283	C	T	18	55402052	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0243156145864903	0.086
18	53069284	A	C	18	55402053	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.726702597113684	0.734
18	53069284	A	G	18	55402053	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.726702597113684	0.73
18	53069284	A	T	18	55402053	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.841582523792526	0.782
18	53069285	C	A	18	55402054	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.986152223221829	0.86
18	53069285	C	G	18	55402054	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.972710711965371	0.838
18	53069285	C	T	18	55402054	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.992648088255867	0.854
18	53069286	A	C	18	55402055	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.018930585655634	0.034
18	53069286	A	G	18	55402055	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.018930585655634	0.034
18	53069286	A	T	18	55402055	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0255974694697583	0.06
18	53069287	T	A	18	55402056	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0255974694697583	0.06
18	53069287	T	C	18	55402056	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.018930585655634	0.034
18	53069287	T	G	18	55402056	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.018930585655634	0.038
18	53069288	T	A	18	55402057	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0255974694697583	0.058
18	53069288	T	C	18	55402057	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0122850908633762	0.034
18	53069288	T	G	18	55402057	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.018930585655634	0.034
18	53070677	T	A	18	55403446	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.9469183429777E-5	0.0
18	53070677	T	C	18	55403446	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.9469183429777E-5	0.0
18	53070677	T	G	18	55403446	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.9469183429777E-5	0.0
18	53070678	C	A	18	55403447	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00180996960304325	0.022
18	53070678	C	G	18	55403447	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00440196365397091	0.038
18	53070678	C	T	18	55403447	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00180996960304325	0.028
18	53070679	A	C	18	55403448	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0484762841657781	0.206
18	53070679	A	G	18	55403448	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.372990759383351	0.338
18	53070679	A	T	18	55403448	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.242319678182759	0.298
18	53070680	C	A	18	55403449	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.973969971118877	0.626
18	53070680	C	G	18	55403449	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.95343270340122	0.608
18	53070680	C	T	18	55403449	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.943306282019957	0.536
18	53070681	T	A	18	55403450	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.806617977612016	0.542
18	53070681	T	C	18	55403450	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.67499770575607	0.548
18	53070681	T	G	18	55403450	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.613876704691634	0.516
18	53070682	T	A	18	55403451	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.886150449126116	0.616
18	53070682	T	C	18	55403451	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.119097622162679	0.174
18	53070682	T	G	18	55403451	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.959263059644439	0.694
18	53070683	A	C	18	55403452	y	y	splicing	TCF4(NM_001243226:exon8:c.675+2T>G;NM_001243230:exon6:c.363+2T>G;NM_001243232:exon3:c.159+2T>G;NM_001083962:exon7:c.369+2T>G;NM_003199:exon7:c.369+2T>G;NM_001243231:exon5:c.243+2T>G;NM_001243228:exon7:c.369+2T>G;NM_001243227:exon6:c.297+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.369+2T>G;ENST00000356073:exon7:c.369+2T>G;ENST00000568673:exon6:c.297+2T>G;ENST00000543082:exon5:c.243+2T>G;ENST00000540999:exon6:c.297+2T>G;ENST00000537578:exon6:c.297+2T>G;ENST00000564999:exon7:c.369+2T>G;ENST00000568740:exon6:c.297+2T>G;ENST00000544241:exon3:c.159+2T>G;ENST00000565018:exon7:c.369+2T>G;ENST00000566279:exon7:c.369+2T>G;ENST00000566286:exon6:c.363+2T>G;ENST00000567880:exon6:c.369+2T>G;ENST00000564228:exon3:c.159+2T>G;ENST00000398339:exon8:c.675+2T>G;ENST00000564403:exon7:c.369+2T>G;ENST00000566514:exon6:c.297+2T>G;ENST00000568169:exon6:c.381+2T>G;ENST00000565908:exon6:c.297+2T>G;ENST00000563824:exon5:c.297+2T>G;ENST00000568147:exon6:c.297+2T>G;ENST00000563888:exon6:c.297+2T>G;ENST00000564343:exon6:c.297+2T>G;ENST00000562543:exon7:c.369+2T>G;ENST00000562847:exon7:c.132+2T>G)	.	.	0.999978952611685	0.928
18	53070683	A	G	18	55403452	y	y	splicing	TCF4(NM_001243226:exon8:c.675+2T>C;NM_001243230:exon6:c.363+2T>C;NM_001243232:exon3:c.159+2T>C;NM_001083962:exon7:c.369+2T>C;NM_003199:exon7:c.369+2T>C;NM_001243231:exon5:c.243+2T>C;NM_001243228:exon7:c.369+2T>C;NM_001243227:exon6:c.297+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.369+2T>C;ENST00000356073:exon7:c.369+2T>C;ENST00000568673:exon6:c.297+2T>C;ENST00000543082:exon5:c.243+2T>C;ENST00000540999:exon6:c.297+2T>C;ENST00000537578:exon6:c.297+2T>C;ENST00000564999:exon7:c.369+2T>C;ENST00000568740:exon6:c.297+2T>C;ENST00000544241:exon3:c.159+2T>C;ENST00000565018:exon7:c.369+2T>C;ENST00000566279:exon7:c.369+2T>C;ENST00000566286:exon6:c.363+2T>C;ENST00000567880:exon6:c.369+2T>C;ENST00000564228:exon3:c.159+2T>C;ENST00000398339:exon8:c.675+2T>C;ENST00000564403:exon7:c.369+2T>C;ENST00000566514:exon6:c.297+2T>C;ENST00000568169:exon6:c.381+2T>C;ENST00000565908:exon6:c.297+2T>C;ENST00000563824:exon5:c.297+2T>C;ENST00000568147:exon6:c.297+2T>C;ENST00000563888:exon6:c.297+2T>C;ENST00000564343:exon6:c.297+2T>C;ENST00000562543:exon7:c.369+2T>C;ENST00000562847:exon7:c.132+2T>C)	.	.	0.995191138062346	0.708
18	53070683	A	T	18	55403452	y	y	splicing	TCF4(NM_001243226:exon8:c.675+2T>A;NM_001243230:exon6:c.363+2T>A;NM_001243232:exon3:c.159+2T>A;NM_001083962:exon7:c.369+2T>A;NM_003199:exon7:c.369+2T>A;NM_001243231:exon5:c.243+2T>A;NM_001243228:exon7:c.369+2T>A;NM_001243227:exon6:c.297+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.369+2T>A;ENST00000356073:exon7:c.369+2T>A;ENST00000568673:exon6:c.297+2T>A;ENST00000543082:exon5:c.243+2T>A;ENST00000540999:exon6:c.297+2T>A;ENST00000537578:exon6:c.297+2T>A;ENST00000564999:exon7:c.369+2T>A;ENST00000568740:exon6:c.297+2T>A;ENST00000544241:exon3:c.159+2T>A;ENST00000565018:exon7:c.369+2T>A;ENST00000566279:exon7:c.369+2T>A;ENST00000566286:exon6:c.363+2T>A;ENST00000567880:exon6:c.369+2T>A;ENST00000564228:exon3:c.159+2T>A;ENST00000398339:exon8:c.675+2T>A;ENST00000564403:exon7:c.369+2T>A;ENST00000566514:exon6:c.297+2T>A;ENST00000568169:exon6:c.381+2T>A;ENST00000565908:exon6:c.297+2T>A;ENST00000563824:exon5:c.297+2T>A;ENST00000568147:exon6:c.297+2T>A;ENST00000563888:exon6:c.297+2T>A;ENST00000564343:exon6:c.297+2T>A;ENST00000562543:exon7:c.369+2T>A;ENST00000562847:exon7:c.132+2T>A)	.	.	0.999978952611685	0.93
18	53070684	C	A	18	55403453	y	y	splicing	TCF4(NM_001243226:exon8:c.675+1G>T;NM_001243230:exon6:c.363+1G>T;NM_001243232:exon3:c.159+1G>T;NM_001083962:exon7:c.369+1G>T;NM_003199:exon7:c.369+1G>T;NM_001243231:exon5:c.243+1G>T;NM_001243228:exon7:c.369+1G>T;NM_001243227:exon6:c.297+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.369+1G>T;ENST00000356073:exon7:c.369+1G>T;ENST00000568673:exon6:c.297+1G>T;ENST00000543082:exon5:c.243+1G>T;ENST00000540999:exon6:c.297+1G>T;ENST00000537578:exon6:c.297+1G>T;ENST00000564999:exon7:c.369+1G>T;ENST00000568740:exon6:c.297+1G>T;ENST00000544241:exon3:c.159+1G>T;ENST00000565018:exon7:c.369+1G>T;ENST00000566279:exon7:c.369+1G>T;ENST00000566286:exon6:c.363+1G>T;ENST00000567880:exon6:c.369+1G>T;ENST00000564228:exon3:c.159+1G>T;ENST00000398339:exon8:c.675+1G>T;ENST00000564403:exon7:c.369+1G>T;ENST00000566514:exon6:c.297+1G>T;ENST00000568169:exon6:c.381+1G>T;ENST00000565908:exon6:c.297+1G>T;ENST00000563824:exon5:c.297+1G>T;ENST00000568147:exon6:c.297+1G>T;ENST00000563888:exon6:c.297+1G>T;ENST00000564343:exon6:c.297+1G>T;ENST00000562543:exon7:c.369+1G>T;ENST00000562847:exon7:c.132+1G>T)	.	.	0.999982737877662	0.938
18	53070684	C	G	18	55403453	y	y	splicing	TCF4(NM_001243226:exon8:c.675+1G>C;NM_001243230:exon6:c.363+1G>C;NM_001243232:exon3:c.159+1G>C;NM_001083962:exon7:c.369+1G>C;NM_003199:exon7:c.369+1G>C;NM_001243231:exon5:c.243+1G>C;NM_001243228:exon7:c.369+1G>C;NM_001243227:exon6:c.297+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.369+1G>C;ENST00000356073:exon7:c.369+1G>C;ENST00000568673:exon6:c.297+1G>C;ENST00000543082:exon5:c.243+1G>C;ENST00000540999:exon6:c.297+1G>C;ENST00000537578:exon6:c.297+1G>C;ENST00000564999:exon7:c.369+1G>C;ENST00000568740:exon6:c.297+1G>C;ENST00000544241:exon3:c.159+1G>C;ENST00000565018:exon7:c.369+1G>C;ENST00000566279:exon7:c.369+1G>C;ENST00000566286:exon6:c.363+1G>C;ENST00000567880:exon6:c.369+1G>C;ENST00000564228:exon3:c.159+1G>C;ENST00000398339:exon8:c.675+1G>C;ENST00000564403:exon7:c.369+1G>C;ENST00000566514:exon6:c.297+1G>C;ENST00000568169:exon6:c.381+1G>C;ENST00000565908:exon6:c.297+1G>C;ENST00000563824:exon5:c.297+1G>C;ENST00000568147:exon6:c.297+1G>C;ENST00000563888:exon6:c.297+1G>C;ENST00000564343:exon6:c.297+1G>C;ENST00000562543:exon7:c.369+1G>C;ENST00000562847:exon7:c.132+1G>C)	.	.	0.999982737877662	0.932
18	53070684	C	T	18	55403453	y	y	splicing	TCF4(NM_001243226:exon8:c.675+1G>A;NM_001243230:exon6:c.363+1G>A;NM_001243232:exon3:c.159+1G>A;NM_001083962:exon7:c.369+1G>A;NM_003199:exon7:c.369+1G>A;NM_001243231:exon5:c.243+1G>A;NM_001243228:exon7:c.369+1G>A;NM_001243227:exon6:c.297+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.369+1G>A;ENST00000356073:exon7:c.369+1G>A;ENST00000568673:exon6:c.297+1G>A;ENST00000543082:exon5:c.243+1G>A;ENST00000540999:exon6:c.297+1G>A;ENST00000537578:exon6:c.297+1G>A;ENST00000564999:exon7:c.369+1G>A;ENST00000568740:exon6:c.297+1G>A;ENST00000544241:exon3:c.159+1G>A;ENST00000565018:exon7:c.369+1G>A;ENST00000566279:exon7:c.369+1G>A;ENST00000566286:exon6:c.363+1G>A;ENST00000567880:exon6:c.369+1G>A;ENST00000564228:exon3:c.159+1G>A;ENST00000398339:exon8:c.675+1G>A;ENST00000564403:exon7:c.369+1G>A;ENST00000566514:exon6:c.297+1G>A;ENST00000568169:exon6:c.381+1G>A;ENST00000565908:exon6:c.297+1G>A;ENST00000563824:exon5:c.297+1G>A;ENST00000568147:exon6:c.297+1G>A;ENST00000563888:exon6:c.297+1G>A;ENST00000564343:exon6:c.297+1G>A;ENST00000562543:exon7:c.369+1G>A;ENST00000562847:exon7:c.132+1G>A)	.	.	0.999990361384395	0.938
18	53070685	C	A	18	55403454	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.G243T:p.Q81H;TCF4:NM_003199:exon6:c.G369T:p.Q123H;TCF4:NM_001243230:exon5:c.G363T:p.Q121H;TCF4:NM_001243232:exon2:c.G159T:p.Q53H;TCF4:NM_001083962:exon6:c.G369T:p.Q123H;TCF4:NM_001243227:exon5:c.G297T:p.Q99H;TCF4:NM_001243226:exon7:c.G675T:p.Q225H;TCF4:NM_001243228:exon6:c.G369T:p.Q123H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.G369T:p.Q123H;ENSG00000196628:ENST00000568169:exon5:c.G381T:p.Q127H;ENSG00000196628:ENST00000564999:exon6:c.G369T:p.Q123H;ENSG00000196628:ENST00000568740:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000565018:exon6:c.G369T:p.Q123H;ENSG00000196628:ENST00000568147:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000354452:exon6:c.G369T:p.Q123H;ENSG00000196628:ENST00000566286:exon5:c.G363T:p.Q121H;ENSG00000196628:ENST00000566514:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000356073:exon6:c.G369T:p.Q123H;ENSG00000196628:ENST00000564343:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000562543:exon6:c.G369T:p.Q123H;ENSG00000196628:ENST00000543082:exon4:c.G243T:p.Q81H;ENSG00000196628:ENST00000562847:exon6:c.G132T:p.Q44H;ENSG00000196628:ENST00000544241:exon2:c.G159T:p.Q53H;ENSG00000196628:ENST00000537578:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000563888:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000564403:exon6:c.G369T:p.Q123H;ENSG00000196628:ENST00000563824:exon4:c.G297T:p.Q99H;ENSG00000196628:ENST00000565908:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000568673:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000540999:exon5:c.G297T:p.Q99H;ENSG00000196628:ENST00000569357:exon6:c.G297T:p.Q99H;ENSG00000196628:ENST00000398339:exon7:c.G675T:p.Q225H;ENSG00000196628:ENST00000564228:exon2:c.G159T:p.Q53H;ENSG00000196628:ENST00000567880:exon5:c.G369T:p.Q123H;	0.999934202375207	0.876
18	53070685	C	G	18	55403454	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.G243C:p.Q81H;TCF4:NM_003199:exon6:c.G369C:p.Q123H;TCF4:NM_001243230:exon5:c.G363C:p.Q121H;TCF4:NM_001243232:exon2:c.G159C:p.Q53H;TCF4:NM_001083962:exon6:c.G369C:p.Q123H;TCF4:NM_001243227:exon5:c.G297C:p.Q99H;TCF4:NM_001243226:exon7:c.G675C:p.Q225H;TCF4:NM_001243228:exon6:c.G369C:p.Q123H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.G369C:p.Q123H;ENSG00000196628:ENST00000568169:exon5:c.G381C:p.Q127H;ENSG00000196628:ENST00000564999:exon6:c.G369C:p.Q123H;ENSG00000196628:ENST00000568740:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000565018:exon6:c.G369C:p.Q123H;ENSG00000196628:ENST00000568147:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000354452:exon6:c.G369C:p.Q123H;ENSG00000196628:ENST00000566286:exon5:c.G363C:p.Q121H;ENSG00000196628:ENST00000566514:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000356073:exon6:c.G369C:p.Q123H;ENSG00000196628:ENST00000564343:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000562543:exon6:c.G369C:p.Q123H;ENSG00000196628:ENST00000543082:exon4:c.G243C:p.Q81H;ENSG00000196628:ENST00000562847:exon6:c.G132C:p.Q44H;ENSG00000196628:ENST00000544241:exon2:c.G159C:p.Q53H;ENSG00000196628:ENST00000537578:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000563888:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000564403:exon6:c.G369C:p.Q123H;ENSG00000196628:ENST00000563824:exon4:c.G297C:p.Q99H;ENSG00000196628:ENST00000565908:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000568673:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000540999:exon5:c.G297C:p.Q99H;ENSG00000196628:ENST00000569357:exon6:c.G297C:p.Q99H;ENSG00000196628:ENST00000398339:exon7:c.G675C:p.Q225H;ENSG00000196628:ENST00000564228:exon2:c.G159C:p.Q53H;ENSG00000196628:ENST00000567880:exon5:c.G369C:p.Q123H;	0.999944041580982	0.902
18	53070685	C	T	18	55403454	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon4:c.G243A:p.Q81Q;TCF4:NM_003199:exon6:c.G369A:p.Q123Q;TCF4:NM_001243230:exon5:c.G363A:p.Q121Q;TCF4:NM_001243232:exon2:c.G159A:p.Q53Q;TCF4:NM_001083962:exon6:c.G369A:p.Q123Q;TCF4:NM_001243227:exon5:c.G297A:p.Q99Q;TCF4:NM_001243226:exon7:c.G675A:p.Q225Q;TCF4:NM_001243228:exon6:c.G369A:p.Q123Q;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.G369A:p.Q123Q;ENSG00000196628:ENST00000568169:exon5:c.G381A:p.Q127Q;ENSG00000196628:ENST00000564999:exon6:c.G369A:p.Q123Q;ENSG00000196628:ENST00000568740:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000565018:exon6:c.G369A:p.Q123Q;ENSG00000196628:ENST00000568147:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000354452:exon6:c.G369A:p.Q123Q;ENSG00000196628:ENST00000566286:exon5:c.G363A:p.Q121Q;ENSG00000196628:ENST00000566514:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000356073:exon6:c.G369A:p.Q123Q;ENSG00000196628:ENST00000564343:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000562543:exon6:c.G369A:p.Q123Q;ENSG00000196628:ENST00000543082:exon4:c.G243A:p.Q81Q;ENSG00000196628:ENST00000562847:exon6:c.G132A:p.Q44Q;ENSG00000196628:ENST00000544241:exon2:c.G159A:p.Q53Q;ENSG00000196628:ENST00000537578:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000563888:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000564403:exon6:c.G369A:p.Q123Q;ENSG00000196628:ENST00000563824:exon4:c.G297A:p.Q99Q;ENSG00000196628:ENST00000565908:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000568673:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000540999:exon5:c.G297A:p.Q99Q;ENSG00000196628:ENST00000569357:exon6:c.G297A:p.Q99Q;ENSG00000196628:ENST00000398339:exon7:c.G675A:p.Q225Q;ENSG00000196628:ENST00000564228:exon2:c.G159A:p.Q53Q;ENSG00000196628:ENST00000567880:exon5:c.G369A:p.Q123Q;	0.965794471607049	0.514
18	53070686	T	A	18	55403455	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.A242T:p.Q81L;TCF4:NM_003199:exon6:c.A368T:p.Q123L;TCF4:NM_001243230:exon5:c.A362T:p.Q121L;TCF4:NM_001243232:exon2:c.A158T:p.Q53L;TCF4:NM_001083962:exon6:c.A368T:p.Q123L;TCF4:NM_001243227:exon5:c.A296T:p.Q99L;TCF4:NM_001243226:exon7:c.A674T:p.Q225L;TCF4:NM_001243228:exon6:c.A368T:p.Q123L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.A368T:p.Q123L;ENSG00000196628:ENST00000568169:exon5:c.A380T:p.Q127L;ENSG00000196628:ENST00000564999:exon6:c.A368T:p.Q123L;ENSG00000196628:ENST00000568740:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000565018:exon6:c.A368T:p.Q123L;ENSG00000196628:ENST00000568147:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000354452:exon6:c.A368T:p.Q123L;ENSG00000196628:ENST00000566286:exon5:c.A362T:p.Q121L;ENSG00000196628:ENST00000566514:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000356073:exon6:c.A368T:p.Q123L;ENSG00000196628:ENST00000564343:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000562543:exon6:c.A368T:p.Q123L;ENSG00000196628:ENST00000543082:exon4:c.A242T:p.Q81L;ENSG00000196628:ENST00000562847:exon6:c.A131T:p.Q44L;ENSG00000196628:ENST00000544241:exon2:c.A158T:p.Q53L;ENSG00000196628:ENST00000537578:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000563888:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000564403:exon6:c.A368T:p.Q123L;ENSG00000196628:ENST00000563824:exon4:c.A296T:p.Q99L;ENSG00000196628:ENST00000565908:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000568673:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000540999:exon5:c.A296T:p.Q99L;ENSG00000196628:ENST00000569357:exon6:c.A296T:p.Q99L;ENSG00000196628:ENST00000398339:exon7:c.A674T:p.Q225L;ENSG00000196628:ENST00000564228:exon2:c.A158T:p.Q53L;ENSG00000196628:ENST00000567880:exon5:c.A368T:p.Q123L;	0.954006385012402	0.594
18	53070686	T	C	18	55403455	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.A242G:p.Q81R;TCF4:NM_003199:exon6:c.A368G:p.Q123R;TCF4:NM_001243230:exon5:c.A362G:p.Q121R;TCF4:NM_001243232:exon2:c.A158G:p.Q53R;TCF4:NM_001083962:exon6:c.A368G:p.Q123R;TCF4:NM_001243227:exon5:c.A296G:p.Q99R;TCF4:NM_001243226:exon7:c.A674G:p.Q225R;TCF4:NM_001243228:exon6:c.A368G:p.Q123R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.A368G:p.Q123R;ENSG00000196628:ENST00000568169:exon5:c.A380G:p.Q127R;ENSG00000196628:ENST00000564999:exon6:c.A368G:p.Q123R;ENSG00000196628:ENST00000568740:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000565018:exon6:c.A368G:p.Q123R;ENSG00000196628:ENST00000568147:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000354452:exon6:c.A368G:p.Q123R;ENSG00000196628:ENST00000566286:exon5:c.A362G:p.Q121R;ENSG00000196628:ENST00000566514:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000356073:exon6:c.A368G:p.Q123R;ENSG00000196628:ENST00000564343:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000562543:exon6:c.A368G:p.Q123R;ENSG00000196628:ENST00000543082:exon4:c.A242G:p.Q81R;ENSG00000196628:ENST00000562847:exon6:c.A131G:p.Q44R;ENSG00000196628:ENST00000544241:exon2:c.A158G:p.Q53R;ENSG00000196628:ENST00000537578:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000563888:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000564403:exon6:c.A368G:p.Q123R;ENSG00000196628:ENST00000563824:exon4:c.A296G:p.Q99R;ENSG00000196628:ENST00000565908:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000568673:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000540999:exon5:c.A296G:p.Q99R;ENSG00000196628:ENST00000569357:exon6:c.A296G:p.Q99R;ENSG00000196628:ENST00000398339:exon7:c.A674G:p.Q225R;ENSG00000196628:ENST00000564228:exon2:c.A158G:p.Q53R;ENSG00000196628:ENST00000567880:exon5:c.A368G:p.Q123R;	0.987788688282292	0.73
18	53070686	T	G	18	55403455	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.A242C:p.Q81P;TCF4:NM_003199:exon6:c.A368C:p.Q123P;TCF4:NM_001243230:exon5:c.A362C:p.Q121P;TCF4:NM_001243232:exon2:c.A158C:p.Q53P;TCF4:NM_001083962:exon6:c.A368C:p.Q123P;TCF4:NM_001243227:exon5:c.A296C:p.Q99P;TCF4:NM_001243226:exon7:c.A674C:p.Q225P;TCF4:NM_001243228:exon6:c.A368C:p.Q123P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.A368C:p.Q123P;ENSG00000196628:ENST00000568169:exon5:c.A380C:p.Q127P;ENSG00000196628:ENST00000564999:exon6:c.A368C:p.Q123P;ENSG00000196628:ENST00000568740:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000565018:exon6:c.A368C:p.Q123P;ENSG00000196628:ENST00000568147:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000354452:exon6:c.A368C:p.Q123P;ENSG00000196628:ENST00000566286:exon5:c.A362C:p.Q121P;ENSG00000196628:ENST00000566514:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000356073:exon6:c.A368C:p.Q123P;ENSG00000196628:ENST00000564343:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000562543:exon6:c.A368C:p.Q123P;ENSG00000196628:ENST00000543082:exon4:c.A242C:p.Q81P;ENSG00000196628:ENST00000562847:exon6:c.A131C:p.Q44P;ENSG00000196628:ENST00000544241:exon2:c.A158C:p.Q53P;ENSG00000196628:ENST00000537578:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000563888:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000564403:exon6:c.A368C:p.Q123P;ENSG00000196628:ENST00000563824:exon4:c.A296C:p.Q99P;ENSG00000196628:ENST00000565908:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000568673:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000540999:exon5:c.A296C:p.Q99P;ENSG00000196628:ENST00000569357:exon6:c.A296C:p.Q99P;ENSG00000196628:ENST00000398339:exon7:c.A674C:p.Q225P;ENSG00000196628:ENST00000564228:exon2:c.A158C:p.Q53P;ENSG00000196628:ENST00000567880:exon5:c.A368C:p.Q123P;	0.983732779538289	0.704
18	53070687	G	A	18	55403456	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243231:exon4:c.C241T:p.Q81X;TCF4:NM_003199:exon6:c.C367T:p.Q123X;TCF4:NM_001243230:exon5:c.C361T:p.Q121X;TCF4:NM_001243232:exon2:c.C157T:p.Q53X;TCF4:NM_001083962:exon6:c.C367T:p.Q123X;TCF4:NM_001243227:exon5:c.C295T:p.Q99X;TCF4:NM_001243226:exon7:c.C673T:p.Q225X;TCF4:NM_001243228:exon6:c.C367T:p.Q123X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon6:c.C367T:p.Q123X;ENSG00000196628:ENST00000568169:exon5:c.C379T:p.Q127X;ENSG00000196628:ENST00000564999:exon6:c.C367T:p.Q123X;ENSG00000196628:ENST00000568740:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000565018:exon6:c.C367T:p.Q123X;ENSG00000196628:ENST00000568147:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000354452:exon6:c.C367T:p.Q123X;ENSG00000196628:ENST00000566286:exon5:c.C361T:p.Q121X;ENSG00000196628:ENST00000566514:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000356073:exon6:c.C367T:p.Q123X;ENSG00000196628:ENST00000564343:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000562543:exon6:c.C367T:p.Q123X;ENSG00000196628:ENST00000543082:exon4:c.C241T:p.Q81X;ENSG00000196628:ENST00000562847:exon6:c.C130T:p.Q44X;ENSG00000196628:ENST00000544241:exon2:c.C157T:p.Q53X;ENSG00000196628:ENST00000537578:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000563888:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000564403:exon6:c.C367T:p.Q123X;ENSG00000196628:ENST00000563824:exon4:c.C295T:p.Q99X;ENSG00000196628:ENST00000565908:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000568673:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000540999:exon5:c.C295T:p.Q99X;ENSG00000196628:ENST00000569357:exon6:c.C295T:p.Q99X;ENSG00000196628:ENST00000398339:exon7:c.C673T:p.Q225X;ENSG00000196628:ENST00000564228:exon2:c.C157T:p.Q53X;ENSG00000196628:ENST00000567880:exon5:c.C367T:p.Q123X;	0.99875882519429	0.738
18	53070687	G	C	18	55403456	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.C241G:p.Q81E;TCF4:NM_003199:exon6:c.C367G:p.Q123E;TCF4:NM_001243230:exon5:c.C361G:p.Q121E;TCF4:NM_001243232:exon2:c.C157G:p.Q53E;TCF4:NM_001083962:exon6:c.C367G:p.Q123E;TCF4:NM_001243227:exon5:c.C295G:p.Q99E;TCF4:NM_001243226:exon7:c.C673G:p.Q225E;TCF4:NM_001243228:exon6:c.C367G:p.Q123E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.C367G:p.Q123E;ENSG00000196628:ENST00000568169:exon5:c.C379G:p.Q127E;ENSG00000196628:ENST00000564999:exon6:c.C367G:p.Q123E;ENSG00000196628:ENST00000568740:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000565018:exon6:c.C367G:p.Q123E;ENSG00000196628:ENST00000568147:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000354452:exon6:c.C367G:p.Q123E;ENSG00000196628:ENST00000566286:exon5:c.C361G:p.Q121E;ENSG00000196628:ENST00000566514:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000356073:exon6:c.C367G:p.Q123E;ENSG00000196628:ENST00000564343:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000562543:exon6:c.C367G:p.Q123E;ENSG00000196628:ENST00000543082:exon4:c.C241G:p.Q81E;ENSG00000196628:ENST00000562847:exon6:c.C130G:p.Q44E;ENSG00000196628:ENST00000544241:exon2:c.C157G:p.Q53E;ENSG00000196628:ENST00000537578:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000563888:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000564403:exon6:c.C367G:p.Q123E;ENSG00000196628:ENST00000563824:exon4:c.C295G:p.Q99E;ENSG00000196628:ENST00000565908:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000568673:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000540999:exon5:c.C295G:p.Q99E;ENSG00000196628:ENST00000569357:exon6:c.C295G:p.Q99E;ENSG00000196628:ENST00000398339:exon7:c.C673G:p.Q225E;ENSG00000196628:ENST00000564228:exon2:c.C157G:p.Q53E;ENSG00000196628:ENST00000567880:exon5:c.C367G:p.Q123E;	0.925540023844865	0.65
18	53070687	G	T	18	55403456	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.C241A:p.Q81K;TCF4:NM_003199:exon6:c.C367A:p.Q123K;TCF4:NM_001243230:exon5:c.C361A:p.Q121K;TCF4:NM_001243232:exon2:c.C157A:p.Q53K;TCF4:NM_001083962:exon6:c.C367A:p.Q123K;TCF4:NM_001243227:exon5:c.C295A:p.Q99K;TCF4:NM_001243226:exon7:c.C673A:p.Q225K;TCF4:NM_001243228:exon6:c.C367A:p.Q123K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.C367A:p.Q123K;ENSG00000196628:ENST00000568169:exon5:c.C379A:p.Q127K;ENSG00000196628:ENST00000564999:exon6:c.C367A:p.Q123K;ENSG00000196628:ENST00000568740:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000565018:exon6:c.C367A:p.Q123K;ENSG00000196628:ENST00000568147:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000354452:exon6:c.C367A:p.Q123K;ENSG00000196628:ENST00000566286:exon5:c.C361A:p.Q121K;ENSG00000196628:ENST00000566514:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000356073:exon6:c.C367A:p.Q123K;ENSG00000196628:ENST00000564343:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000562543:exon6:c.C367A:p.Q123K;ENSG00000196628:ENST00000543082:exon4:c.C241A:p.Q81K;ENSG00000196628:ENST00000562847:exon6:c.C130A:p.Q44K;ENSG00000196628:ENST00000544241:exon2:c.C157A:p.Q53K;ENSG00000196628:ENST00000537578:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000563888:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000564403:exon6:c.C367A:p.Q123K;ENSG00000196628:ENST00000563824:exon4:c.C295A:p.Q99K;ENSG00000196628:ENST00000565908:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000568673:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000540999:exon5:c.C295A:p.Q99K;ENSG00000196628:ENST00000569357:exon6:c.C295A:p.Q99K;ENSG00000196628:ENST00000398339:exon7:c.C673A:p.Q225K;ENSG00000196628:ENST00000564228:exon2:c.C157A:p.Q53K;ENSG00000196628:ENST00000567880:exon5:c.C367A:p.Q123K;	0.969833736589811	0.794
18	53070748	A	C	18	55403517	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.T180G:p.S60R;TCF4:NM_003199:exon6:c.T306G:p.S102R;TCF4:NM_001243230:exon5:c.T300G:p.S100R;TCF4:NM_001083962:exon6:c.T306G:p.S102R;TCF4:NM_001243227:exon5:c.T234G:p.S78R;TCF4:NM_001243226:exon7:c.T612G:p.S204R;TCF4:NM_001243228:exon6:c.T306G:p.S102R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.T306G:p.S102R;ENSG00000196628:ENST00000568169:exon5:c.T318G:p.S106R;ENSG00000196628:ENST00000564999:exon6:c.T306G:p.S102R;ENSG00000196628:ENST00000568740:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000565018:exon6:c.T306G:p.S102R;ENSG00000196628:ENST00000568147:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000354452:exon6:c.T306G:p.S102R;ENSG00000196628:ENST00000566286:exon5:c.T300G:p.S100R;ENSG00000196628:ENST00000566514:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000356073:exon6:c.T306G:p.S102R;ENSG00000196628:ENST00000564343:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000562543:exon6:c.T306G:p.S102R;ENSG00000196628:ENST00000543082:exon4:c.T180G:p.S60R;ENSG00000196628:ENST00000562847:exon6:c.T69G:p.S23R;ENSG00000196628:ENST00000537578:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000563888:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000564403:exon6:c.T306G:p.S102R;ENSG00000196628:ENST00000563824:exon4:c.T234G:p.S78R;ENSG00000196628:ENST00000565908:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000568673:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000540999:exon5:c.T234G:p.S78R;ENSG00000196628:ENST00000569357:exon6:c.T234G:p.S78R;ENSG00000196628:ENST00000398339:exon7:c.T612G:p.S204R;ENSG00000196628:ENST00000567880:exon5:c.T306G:p.S102R;	0.025516749173406	0.154
18	53070748	A	G	18	55403517	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon4:c.T180C:p.S60S;TCF4:NM_003199:exon6:c.T306C:p.S102S;TCF4:NM_001243230:exon5:c.T300C:p.S100S;TCF4:NM_001243232:exon2:c.T96C:p.R32R;TCF4:NM_001083962:exon6:c.T306C:p.S102S;TCF4:NM_001243227:exon5:c.T234C:p.S78S;TCF4:NM_001243226:exon7:c.T612C:p.S204S;TCF4:NM_001243228:exon6:c.T306C:p.S102S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.T306C:p.S102S;ENSG00000196628:ENST00000568169:exon5:c.T318C:p.S106S;ENSG00000196628:ENST00000564999:exon6:c.T306C:p.S102S;ENSG00000196628:ENST00000568740:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000565018:exon6:c.T306C:p.S102S;ENSG00000196628:ENST00000568147:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000354452:exon6:c.T306C:p.S102S;ENSG00000196628:ENST00000566286:exon5:c.T300C:p.S100S;ENSG00000196628:ENST00000566514:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000356073:exon6:c.T306C:p.S102S;ENSG00000196628:ENST00000564343:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000562543:exon6:c.T306C:p.S102S;ENSG00000196628:ENST00000543082:exon4:c.T180C:p.S60S;ENSG00000196628:ENST00000562847:exon6:c.T69C:p.S23S;ENSG00000196628:ENST00000544241:exon2:c.T96C:p.R32R;ENSG00000196628:ENST00000537578:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000563888:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000564403:exon6:c.T306C:p.S102S;ENSG00000196628:ENST00000563824:exon4:c.T234C:p.S78S;ENSG00000196628:ENST00000565908:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000568673:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000540999:exon5:c.T234C:p.S78S;ENSG00000196628:ENST00000569357:exon6:c.T234C:p.S78S;ENSG00000196628:ENST00000398339:exon7:c.T612C:p.S204S;ENSG00000196628:ENST00000564228:exon2:c.T96C:p.R32R;ENSG00000196628:ENST00000567880:exon5:c.T306C:p.S102S;	0.0109430726665183	0.166
18	53070748	A	T	18	55403517	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.T180A:p.S60R;TCF4:NM_003199:exon6:c.T306A:p.S102R;TCF4:NM_001243230:exon5:c.T300A:p.S100R;TCF4:NM_001083962:exon6:c.T306A:p.S102R;TCF4:NM_001243227:exon5:c.T234A:p.S78R;TCF4:NM_001243226:exon7:c.T612A:p.S204R;TCF4:NM_001243228:exon6:c.T306A:p.S102R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.T306A:p.S102R;ENSG00000196628:ENST00000568169:exon5:c.T318A:p.S106R;ENSG00000196628:ENST00000564999:exon6:c.T306A:p.S102R;ENSG00000196628:ENST00000568740:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000565018:exon6:c.T306A:p.S102R;ENSG00000196628:ENST00000568147:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000354452:exon6:c.T306A:p.S102R;ENSG00000196628:ENST00000566286:exon5:c.T300A:p.S100R;ENSG00000196628:ENST00000566514:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000356073:exon6:c.T306A:p.S102R;ENSG00000196628:ENST00000564343:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000562543:exon6:c.T306A:p.S102R;ENSG00000196628:ENST00000543082:exon4:c.T180A:p.S60R;ENSG00000196628:ENST00000562847:exon6:c.T69A:p.S23R;ENSG00000196628:ENST00000537578:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000563888:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000564403:exon6:c.T306A:p.S102R;ENSG00000196628:ENST00000563824:exon4:c.T234A:p.S78R;ENSG00000196628:ENST00000565908:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000568673:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000540999:exon5:c.T234A:p.S78R;ENSG00000196628:ENST00000569357:exon6:c.T234A:p.S78R;ENSG00000196628:ENST00000398339:exon7:c.T612A:p.S204R;ENSG00000196628:ENST00000567880:exon5:c.T306A:p.S102R;	0.0204821199175612	0.118
18	53070749	C	A	18	55403518	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.G179T:p.S60I;TCF4:NM_003199:exon6:c.G305T:p.S102I;TCF4:NM_001243230:exon5:c.G299T:p.S100I;TCF4:NM_001243232:exon2:c.G95T:p.R32L;TCF4:NM_001083962:exon6:c.G305T:p.S102I;TCF4:NM_001243227:exon5:c.G233T:p.S78I;TCF4:NM_001243226:exon7:c.G611T:p.S204I;TCF4:NM_001243228:exon6:c.G305T:p.S102I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.G305T:p.S102I;ENSG00000196628:ENST00000568169:exon5:c.G317T:p.S106I;ENSG00000196628:ENST00000564999:exon6:c.G305T:p.S102I;ENSG00000196628:ENST00000568740:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000565018:exon6:c.G305T:p.S102I;ENSG00000196628:ENST00000568147:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000354452:exon6:c.G305T:p.S102I;ENSG00000196628:ENST00000566286:exon5:c.G299T:p.S100I;ENSG00000196628:ENST00000566514:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000356073:exon6:c.G305T:p.S102I;ENSG00000196628:ENST00000564343:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000562543:exon6:c.G305T:p.S102I;ENSG00000196628:ENST00000543082:exon4:c.G179T:p.S60I;ENSG00000196628:ENST00000562847:exon6:c.G68T:p.S23I;ENSG00000196628:ENST00000544241:exon2:c.G95T:p.R32L;ENSG00000196628:ENST00000537578:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000563888:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000564403:exon6:c.G305T:p.S102I;ENSG00000196628:ENST00000563824:exon4:c.G233T:p.S78I;ENSG00000196628:ENST00000565908:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000568673:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000540999:exon5:c.G233T:p.S78I;ENSG00000196628:ENST00000569357:exon6:c.G233T:p.S78I;ENSG00000196628:ENST00000398339:exon7:c.G611T:p.S204I;ENSG00000196628:ENST00000564228:exon2:c.G95T:p.R32L;ENSG00000196628:ENST00000567880:exon5:c.G305T:p.S102I;	0.999145514903502	0.96
18	53070749	C	G	18	55403518	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.G179C:p.S60T;TCF4:NM_003199:exon6:c.G305C:p.S102T;TCF4:NM_001243230:exon5:c.G299C:p.S100T;TCF4:NM_001243232:exon2:c.G95C:p.R32P;TCF4:NM_001083962:exon6:c.G305C:p.S102T;TCF4:NM_001243227:exon5:c.G233C:p.S78T;TCF4:NM_001243226:exon7:c.G611C:p.S204T;TCF4:NM_001243228:exon6:c.G305C:p.S102T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.G305C:p.S102T;ENSG00000196628:ENST00000568169:exon5:c.G317C:p.S106T;ENSG00000196628:ENST00000564999:exon6:c.G305C:p.S102T;ENSG00000196628:ENST00000568740:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000565018:exon6:c.G305C:p.S102T;ENSG00000196628:ENST00000568147:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000354452:exon6:c.G305C:p.S102T;ENSG00000196628:ENST00000566286:exon5:c.G299C:p.S100T;ENSG00000196628:ENST00000566514:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000356073:exon6:c.G305C:p.S102T;ENSG00000196628:ENST00000564343:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000562543:exon6:c.G305C:p.S102T;ENSG00000196628:ENST00000543082:exon4:c.G179C:p.S60T;ENSG00000196628:ENST00000562847:exon6:c.G68C:p.S23T;ENSG00000196628:ENST00000544241:exon2:c.G95C:p.R32P;ENSG00000196628:ENST00000537578:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000563888:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000564403:exon6:c.G305C:p.S102T;ENSG00000196628:ENST00000563824:exon4:c.G233C:p.S78T;ENSG00000196628:ENST00000565908:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000568673:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000540999:exon5:c.G233C:p.S78T;ENSG00000196628:ENST00000569357:exon6:c.G233C:p.S78T;ENSG00000196628:ENST00000398339:exon7:c.G611C:p.S204T;ENSG00000196628:ENST00000564228:exon2:c.G95C:p.R32P;ENSG00000196628:ENST00000567880:exon5:c.G305C:p.S102T;	0.999078798984612	0.886
18	53070749	C	T	18	55403518	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon4:c.G179A:p.S60N;TCF4:NM_003199:exon6:c.G305A:p.S102N;TCF4:NM_001243230:exon5:c.G299A:p.S100N;TCF4:NM_001243232:exon2:c.G95A:p.R32H;TCF4:NM_001083962:exon6:c.G305A:p.S102N;TCF4:NM_001243227:exon5:c.G233A:p.S78N;TCF4:NM_001243226:exon7:c.G611A:p.S204N;TCF4:NM_001243228:exon6:c.G305A:p.S102N;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon6:c.G305A:p.S102N;ENSG00000196628:ENST00000568169:exon5:c.G317A:p.S106N;ENSG00000196628:ENST00000564999:exon6:c.G305A:p.S102N;ENSG00000196628:ENST00000568740:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000565018:exon6:c.G305A:p.S102N;ENSG00000196628:ENST00000568147:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000354452:exon6:c.G305A:p.S102N;ENSG00000196628:ENST00000566286:exon5:c.G299A:p.S100N;ENSG00000196628:ENST00000566514:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000356073:exon6:c.G305A:p.S102N;ENSG00000196628:ENST00000564343:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000562543:exon6:c.G305A:p.S102N;ENSG00000196628:ENST00000543082:exon4:c.G179A:p.S60N;ENSG00000196628:ENST00000562847:exon6:c.G68A:p.S23N;ENSG00000196628:ENST00000544241:exon2:c.G95A:p.R32H;ENSG00000196628:ENST00000537578:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000563888:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000564403:exon6:c.G305A:p.S102N;ENSG00000196628:ENST00000563824:exon4:c.G233A:p.S78N;ENSG00000196628:ENST00000565908:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000568673:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000540999:exon5:c.G233A:p.S78N;ENSG00000196628:ENST00000569357:exon6:c.G233A:p.S78N;ENSG00000196628:ENST00000398339:exon7:c.G611A:p.S204N;ENSG00000196628:ENST00000564228:exon2:c.G95A:p.R32H;ENSG00000196628:ENST00000567880:exon5:c.G305A:p.S102N;	0.997809875088692	0.75
18	53070750	C	A	18	55403519	y	y	splicing	TCF4(NM_001243226:exon8:c.611-1G>T;NM_001243230:exon6:c.299-1G>T;NM_001243232:exon3:c.95-1G>T;NM_001083962:exon7:c.305-1G>T;NM_003199:exon7:c.305-1G>T;NM_001243231:exon5:c.179-1G>T;NM_001243228:exon7:c.305-1G>T;NM_001243227:exon6:c.233-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.305-1G>T;ENST00000356073:exon7:c.305-1G>T;ENST00000568673:exon6:c.233-1G>T;ENST00000543082:exon5:c.179-1G>T;ENST00000540999:exon6:c.233-1G>T;ENST00000537578:exon6:c.233-1G>T;ENST00000564999:exon7:c.305-1G>T;ENST00000568740:exon6:c.233-1G>T;ENST00000544241:exon3:c.95-1G>T;ENST00000565018:exon7:c.305-1G>T;ENST00000566279:exon7:c.305-1G>T;ENST00000566286:exon6:c.299-1G>T;ENST00000567880:exon6:c.305-1G>T;ENST00000564228:exon3:c.95-1G>T;ENST00000398339:exon8:c.611-1G>T;ENST00000564403:exon7:c.305-1G>T;ENST00000566514:exon6:c.233-1G>T;ENST00000568169:exon6:c.317-1G>T;ENST00000565908:exon6:c.233-1G>T;ENST00000563824:exon5:c.233-1G>T;ENST00000568147:exon6:c.233-1G>T;ENST00000563888:exon6:c.233-1G>T;ENST00000564343:exon6:c.233-1G>T;ENST00000562543:exon7:c.305-1G>T;ENST00000562847:exon7:c.68-1G>T;ENST00000569357:exon7:c.233-1G>T)	.	.	0.99995545544995	0.934
18	53070750	C	G	18	55403519	y	y	splicing	TCF4(NM_001243226:exon8:c.611-1G>C;NM_001243230:exon6:c.299-1G>C;NM_001243232:exon3:c.95-1G>C;NM_001083962:exon7:c.305-1G>C;NM_003199:exon7:c.305-1G>C;NM_001243231:exon5:c.179-1G>C;NM_001243228:exon7:c.305-1G>C;NM_001243227:exon6:c.233-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.305-1G>C;ENST00000356073:exon7:c.305-1G>C;ENST00000568673:exon6:c.233-1G>C;ENST00000543082:exon5:c.179-1G>C;ENST00000540999:exon6:c.233-1G>C;ENST00000537578:exon6:c.233-1G>C;ENST00000564999:exon7:c.305-1G>C;ENST00000568740:exon6:c.233-1G>C;ENST00000544241:exon3:c.95-1G>C;ENST00000565018:exon7:c.305-1G>C;ENST00000566279:exon7:c.305-1G>C;ENST00000566286:exon6:c.299-1G>C;ENST00000567880:exon6:c.305-1G>C;ENST00000564228:exon3:c.95-1G>C;ENST00000398339:exon8:c.611-1G>C;ENST00000564403:exon7:c.305-1G>C;ENST00000566514:exon6:c.233-1G>C;ENST00000568169:exon6:c.317-1G>C;ENST00000565908:exon6:c.233-1G>C;ENST00000563824:exon5:c.233-1G>C;ENST00000568147:exon6:c.233-1G>C;ENST00000563888:exon6:c.233-1G>C;ENST00000564343:exon6:c.233-1G>C;ENST00000562543:exon7:c.305-1G>C;ENST00000562847:exon7:c.68-1G>C;ENST00000569357:exon7:c.233-1G>C)	.	.	0.99995545544995	0.936
18	53070750	C	T	18	55403519	y	y	splicing	TCF4(NM_001243226:exon8:c.611-1G>A;NM_001243230:exon6:c.299-1G>A;NM_001243232:exon3:c.95-1G>A;NM_001083962:exon7:c.305-1G>A;NM_003199:exon7:c.305-1G>A;NM_001243231:exon5:c.179-1G>A;NM_001243228:exon7:c.305-1G>A;NM_001243227:exon6:c.233-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.305-1G>A;ENST00000356073:exon7:c.305-1G>A;ENST00000568673:exon6:c.233-1G>A;ENST00000543082:exon5:c.179-1G>A;ENST00000540999:exon6:c.233-1G>A;ENST00000537578:exon6:c.233-1G>A;ENST00000564999:exon7:c.305-1G>A;ENST00000568740:exon6:c.233-1G>A;ENST00000544241:exon3:c.95-1G>A;ENST00000565018:exon7:c.305-1G>A;ENST00000566279:exon7:c.305-1G>A;ENST00000566286:exon6:c.299-1G>A;ENST00000567880:exon6:c.305-1G>A;ENST00000564228:exon3:c.95-1G>A;ENST00000398339:exon8:c.611-1G>A;ENST00000564403:exon7:c.305-1G>A;ENST00000566514:exon6:c.233-1G>A;ENST00000568169:exon6:c.317-1G>A;ENST00000565908:exon6:c.233-1G>A;ENST00000563824:exon5:c.233-1G>A;ENST00000568147:exon6:c.233-1G>A;ENST00000563888:exon6:c.233-1G>A;ENST00000564343:exon6:c.233-1G>A;ENST00000562543:exon7:c.305-1G>A;ENST00000562847:exon7:c.68-1G>A;ENST00000569357:exon7:c.233-1G>A)	.	.	0.99995545544995	0.932
18	53070751	T	A	18	55403520	y	y	splicing	TCF4(NM_001243226:exon8:c.611-2A>T;NM_001243230:exon6:c.299-2A>T;NM_001243232:exon3:c.95-2A>T;NM_001083962:exon7:c.305-2A>T;NM_003199:exon7:c.305-2A>T;NM_001243231:exon5:c.179-2A>T;NM_001243228:exon7:c.305-2A>T;NM_001243227:exon6:c.233-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.305-2A>T;ENST00000356073:exon7:c.305-2A>T;ENST00000568673:exon6:c.233-2A>T;ENST00000543082:exon5:c.179-2A>T;ENST00000540999:exon6:c.233-2A>T;ENST00000537578:exon6:c.233-2A>T;ENST00000564999:exon7:c.305-2A>T;ENST00000568740:exon6:c.233-2A>T;ENST00000544241:exon3:c.95-2A>T;ENST00000565018:exon7:c.305-2A>T;ENST00000566279:exon7:c.305-2A>T;ENST00000566286:exon6:c.299-2A>T;ENST00000567880:exon6:c.305-2A>T;ENST00000564228:exon3:c.95-2A>T;ENST00000398339:exon8:c.611-2A>T;ENST00000564403:exon7:c.305-2A>T;ENST00000566514:exon6:c.233-2A>T;ENST00000568169:exon6:c.317-2A>T;ENST00000565908:exon6:c.233-2A>T;ENST00000563824:exon5:c.233-2A>T;ENST00000568147:exon6:c.233-2A>T;ENST00000563888:exon6:c.233-2A>T;ENST00000564343:exon6:c.233-2A>T;ENST00000562543:exon7:c.305-2A>T;ENST00000562847:exon7:c.68-2A>T;ENST00000569357:exon7:c.233-2A>T)	.	.	0.99994568797423	0.932
18	53070751	T	C	18	55403520	y	y	splicing	TCF4(NM_001243226:exon8:c.611-2A>G;NM_001243230:exon6:c.299-2A>G;NM_001243232:exon3:c.95-2A>G;NM_001083962:exon7:c.305-2A>G;NM_003199:exon7:c.305-2A>G;NM_001243231:exon5:c.179-2A>G;NM_001243228:exon7:c.305-2A>G;NM_001243227:exon6:c.233-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.305-2A>G;ENST00000356073:exon7:c.305-2A>G;ENST00000568673:exon6:c.233-2A>G;ENST00000543082:exon5:c.179-2A>G;ENST00000540999:exon6:c.233-2A>G;ENST00000537578:exon6:c.233-2A>G;ENST00000564999:exon7:c.305-2A>G;ENST00000568740:exon6:c.233-2A>G;ENST00000544241:exon3:c.95-2A>G;ENST00000565018:exon7:c.305-2A>G;ENST00000566279:exon7:c.305-2A>G;ENST00000566286:exon6:c.299-2A>G;ENST00000567880:exon6:c.305-2A>G;ENST00000564228:exon3:c.95-2A>G;ENST00000398339:exon8:c.611-2A>G;ENST00000564403:exon7:c.305-2A>G;ENST00000566514:exon6:c.233-2A>G;ENST00000568169:exon6:c.317-2A>G;ENST00000565908:exon6:c.233-2A>G;ENST00000563824:exon5:c.233-2A>G;ENST00000568147:exon6:c.233-2A>G;ENST00000563888:exon6:c.233-2A>G;ENST00000564343:exon6:c.233-2A>G;ENST00000562543:exon7:c.305-2A>G;ENST00000562847:exon7:c.68-2A>G;ENST00000569357:exon7:c.233-2A>G)	.	.	0.99994568797423	0.942
18	53070751	T	G	18	55403520	y	y	splicing	TCF4(NM_001243226:exon8:c.611-2A>C;NM_001243230:exon6:c.299-2A>C;NM_001243232:exon3:c.95-2A>C;NM_001083962:exon7:c.305-2A>C;NM_003199:exon7:c.305-2A>C;NM_001243231:exon5:c.179-2A>C;NM_001243228:exon7:c.305-2A>C;NM_001243227:exon6:c.233-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon7:c.305-2A>C;ENST00000356073:exon7:c.305-2A>C;ENST00000568673:exon6:c.233-2A>C;ENST00000543082:exon5:c.179-2A>C;ENST00000540999:exon6:c.233-2A>C;ENST00000537578:exon6:c.233-2A>C;ENST00000564999:exon7:c.305-2A>C;ENST00000568740:exon6:c.233-2A>C;ENST00000544241:exon3:c.95-2A>C;ENST00000565018:exon7:c.305-2A>C;ENST00000566279:exon7:c.305-2A>C;ENST00000566286:exon6:c.299-2A>C;ENST00000567880:exon6:c.305-2A>C;ENST00000564228:exon3:c.95-2A>C;ENST00000398339:exon8:c.611-2A>C;ENST00000564403:exon7:c.305-2A>C;ENST00000566514:exon6:c.233-2A>C;ENST00000568169:exon6:c.317-2A>C;ENST00000565908:exon6:c.233-2A>C;ENST00000563824:exon5:c.233-2A>C;ENST00000568147:exon6:c.233-2A>C;ENST00000563888:exon6:c.233-2A>C;ENST00000564343:exon6:c.233-2A>C;ENST00000562543:exon7:c.305-2A>C;ENST00000562847:exon7:c.68-2A>C;ENST00000569357:exon7:c.233-2A>C)	.	.	0.99994568797423	0.942
18	53070752	G	A	18	55403521	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.287297047495666	0.2
18	53070752	G	C	18	55403521	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.999904590989661	0.946
18	53070752	G	T	18	55403521	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.998059621672646	0.74
18	53070753	C	A	18	55403522	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00886023459079295	0.07
18	53070753	C	G	18	55403522	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00466509837368861	0.056
18	53070753	C	T	18	55403522	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00829642186887783	0.098
18	53070754	C	A	18	55403523	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00258427510974415	0.042
18	53070754	C	G	18	55403523	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00584568282131318	0.052
18	53070754	C	T	18	55403523	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.936014146182271	0.422
18	53070755	A	C	18	55403524	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.112620544258847	0.338
18	53070755	A	G	18	55403524	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.23440925541648E-4	0.014
18	53070755	A	T	18	55403524	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.999818124290927	0.952
18	53070756	A	C	18	55403525	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.493020106106063	0.438
18	53070756	A	G	18	55403525	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00270129646563688	0.062
18	53070756	A	T	18	55403525	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.578904703146343	0.444
18	53070757	G	A	18	55403526	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00326311575459959	0.144
18	53070757	G	C	18	55403526	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0369735935294308	0.284
18	53070757	G	T	18	55403526	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0468163988743222	0.34
18	53070758	A	C	18	55403527	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.787406737098448	0.638
18	53070758	A	G	18	55403527	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0101687751032133	0.104
18	53070758	A	T	18	55403527	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.830172898450387	0.78
18	53070759	G	A	18	55403528	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.32729738242861E-4	0.008
18	53070759	G	C	18	55403528	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00355646969350596	0.128
18	53070759	G	T	18	55403528	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0132856114888029	0.24
18	53070760	A	C	18	55403529	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.526058955825608	0.504
18	53070760	A	G	18	55403529	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.141499471110621	0.218
18	53070760	A	T	18	55403529	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.912166997440576	0.602
18	53070761	A	C	18	55403530	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0457153676559813	0.42
18	53070761	A	G	18	55403530	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0039339770800202	0.128
18	53070761	A	T	18	55403530	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.129497799184997	0.474
18	53070844	T	A	18	55403613	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00763559792386277	0.022
18	53070844	T	C	18	55403613	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.04
18	53070844	T	G	18	55403613	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.022
18	53070845	T	A	18	55403614	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00763559792386277	0.022
18	53070845	T	C	18	55403614	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.036
18	53070845	T	G	18	55403614	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.03
18	53070846	A	C	18	55403615	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.028
18	53070846	A	G	18	55403615	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.036
18	53070846	A	T	18	55403615	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00763559792386277	0.022
18	53070847	C	A	18	55403616	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0196241591524656	0.06
18	53070847	C	G	18	55403616	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0175862606840281	0.058
18	53070847	C	T	18	55403616	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0196241591524656	0.064
18	53070848	A	C	18	55403617	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.63915916572906E-4	0.002
18	53070848	A	G	18	55403617	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.63915916572906E-4	0.004
18	53070848	A	T	18	55403617	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.91285012458584E-4	0.008
18	53070849	T	A	18	55403618	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00763559792386277	0.024
18	53070849	T	C	18	55403618	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.026
18	53070849	T	G	18	55403618	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00445622272127568	0.024
18	53070850	A	C	18	55403619	y	y	splicing	TCF4(NM_001243232:exon2:c.94+2T>G)	.	.	splicing	ENSG00000196628(ENST00000544241:exon2:c.94+2T>G;ENST00000564228:exon2:c.94+2T>G)	.	.	7.15838005414123E-4	0.0
18	53070850	A	G	18	55403619	y	y	splicing	TCF4(NM_001243232:exon2:c.94+2T>C)	.	.	splicing	ENSG00000196628(ENST00000544241:exon2:c.94+2T>C;ENST00000564228:exon2:c.94+2T>C)	.	.	7.15838005414123E-4	0.0
18	53070850	A	T	18	55403619	y	y	splicing	TCF4(NM_001243232:exon2:c.94+2T>A)	.	.	splicing	ENSG00000196628(ENST00000544241:exon2:c.94+2T>A;ENST00000564228:exon2:c.94+2T>A)	.	.	7.15838005414123E-4	0.0
18	53070851	C	A	18	55403620	y	y	splicing	TCF4(NM_001243232:exon2:c.94+1G>T)	.	.	splicing	ENSG00000196628(ENST00000544241:exon2:c.94+1G>T;ENST00000564228:exon2:c.94+1G>T)	.	.	0.0346199706893892	0.066
18	53070851	C	G	18	55403620	y	y	splicing	TCF4(NM_001243232:exon2:c.94+1G>C)	.	.	splicing	ENSG00000196628(ENST00000544241:exon2:c.94+1G>C;ENST00000564228:exon2:c.94+1G>C)	.	.	0.0346199706893892	0.068
18	53070851	C	T	18	55403620	y	y	splicing	TCF4(NM_001243232:exon2:c.94+1G>A)	.	.	splicing	ENSG00000196628(ENST00000544241:exon2:c.94+1G>A;ENST00000564228:exon2:c.94+1G>A)	.	.	0.0527026275502419	0.07
18	53070852	G	A	18	55403621	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon1:c.C94T:p.R32C;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000544241:exon1:c.C94T:p.R32C;ENSG00000196628:ENST00000564228:exon1:c.C94T:p.R32C;	0.00445273769687348	0.07
18	53070852	G	C	18	55403621	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon1:c.C94G:p.R32G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000544241:exon1:c.C94G:p.R32G;ENSG00000196628:ENST00000564228:exon1:c.C94G:p.R32G;	0.00233566774876716	0.03
18	53070852	G	T	18	55403621	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon1:c.C94A:p.R32S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000544241:exon1:c.C94A:p.R32S;ENSG00000196628:ENST00000564228:exon1:c.C94A:p.R32S;	0.00352144084188001	0.042
18	53070853	T	A	18	55403622	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon1:c.A93T:p.L31F;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000544241:exon1:c.A93T:p.L31F;ENSG00000196628:ENST00000564228:exon1:c.A93T:p.L31F;	1.82254846753964E-4	0.002
18	53070853	T	C	18	55403622	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243232:exon1:c.A93G:p.L31L;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000544241:exon1:c.A93G:p.L31L;ENSG00000196628:ENST00000564228:exon1:c.A93G:p.L31L;	1.15928322694241E-4	0.002
18	53070853	T	G	18	55403622	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon1:c.A93C:p.L31F;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000544241:exon1:c.A93C:p.L31F;ENSG00000196628:ENST00000564228:exon1:c.A93C:p.L31F;	1.32658667526046E-4	0.002
18	53070854	A	C	18	55403623	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243232:exon1:c.T92G:p.L31X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000544241:exon1:c.T92G:p.L31X;ENSG00000196628:ENST00000564228:exon1:c.T92G:p.L31X;	0.0579370398021417	0.196
18	53070854	A	G	18	55403623	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243232:exon1:c.T92C:p.L31S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000544241:exon1:c.T92C:p.L31S;ENSG00000196628:ENST00000564228:exon1:c.T92C:p.L31S;	0.00223172515695393	0.006
18	53070854	A	T	18	55403623	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243232:exon1:c.T92A:p.L31X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000544241:exon1:c.T92A:p.L31X;ENSG00000196628:ENST00000564228:exon1:c.T92A:p.L31X;	0.0579370398021417	0.196
18	53089377	A	C	18	55422146	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19909671294817E-5	0.0
18	53089377	A	G	18	55422146	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19909671294817E-5	0.0
18	53089377	A	T	18	55422146	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.91219527972473E-5	0.0
18	53089378	A	C	18	55422147	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.0289423691709E-5	0.034
18	53089378	A	G	18	55422147	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.06599860213005E-5	0.036
18	53089378	A	T	18	55422147	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.81549889251786E-5	0.036
18	53089379	A	C	18	55422148	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.03447724784318E-5	0.004
18	53089379	A	G	18	55422148	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.03447724784318E-5	0.006
18	53089379	A	T	18	55422148	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.03447724784318E-5	0.008
18	53089380	C	A	18	55422149	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.84277354222336E-4	0.002
18	53089380	C	G	18	55422149	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.84277354222336E-4	0.002
18	53089380	C	T	18	55422149	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.25798661241464E-4	0.002
18	53089381	C	A	18	55422150	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.40244684246139E-4	0.016
18	53089381	C	G	18	55422150	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.40244684246139E-4	0.016
18	53089381	C	T	18	55422150	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.40244684246139E-4	0.016
18	53089382	C	A	18	55422151	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.08692400722682E-5	0.002
18	53089382	C	G	18	55422151	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.08692400722682E-5	0.002
18	53089382	C	T	18	55422151	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.08692400722682E-5	0.002
18	53089383	A	C	18	55422152	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.73156701739785E-4	0.056
18	53089383	A	G	18	55422152	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.73156701739785E-4	0.038
18	53089383	A	T	18	55422152	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.73156701739785E-4	0.028
18	53089384	C	A	18	55422153	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.11607729602943E-4	0.026
18	53089384	C	G	18	55422153	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	4.4471649152377E-4	0.022
18	53089384	C	T	18	55422153	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.03056377962419E-4	0.054
18	53089385	C	A	18	55422154	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00109144849427603	0.006
18	53089385	C	G	18	55422154	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00105392990870478	0.006
18	53089385	C	T	18	55422154	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00109144849427603	0.006
18	53089386	C	A	18	55422155	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0102833320419941	0.076
18	53089386	C	G	18	55422155	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00787776197150041	0.078
18	53089386	C	T	18	55422155	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0148371759462779	0.088
18	53089387	T	A	18	55422156	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.80793394726513E-5	0.008
18	53089387	T	C	18	55422156	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.80793394726513E-5	0.008
18	53089387	T	G	18	55422156	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.80793394726513E-5	0.008
18	53089415	C	A	18	55422184	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00161864645900532	0.012
18	53089415	C	G	18	55422184	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00161864645900532	0.012
18	53089415	C	T	18	55422184	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00191846453409559	0.022
18	53089416	T	A	18	55422185	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.72247645960254E-4	0.01
18	53089416	T	C	18	55422185	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.16602419096015E-4	0.008
18	53089416	T	G	18	55422185	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.16602419096015E-4	0.008
18	53089417	T	A	18	55422186	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.821824429032E-4	0.0
18	53089417	T	C	18	55422186	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.55787372000163E-4	0.0
18	53089417	T	G	18	55422186	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.55787372000163E-4	0.0
18	53089418	T	A	18	55422187	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.55183766894313E-5	0.038
18	53089418	T	C	18	55422187	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.29172098833992E-5	0.034
18	53089418	T	G	18	55422187	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.29172098833992E-5	0.034
18	53089419	C	A	18	55422188	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.28931863490738E-5	0.006
18	53089419	C	G	18	55422188	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.28931863490738E-5	0.008
18	53089419	C	T	18	55422188	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.28931863490738E-5	0.006
18	53089420	G	A	18	55422189	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.18892942406909E-5	0.018
18	53089420	G	C	18	55422189	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.18892942406909E-5	0.018
18	53089420	G	T	18	55422189	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.18892942406909E-5	0.018
18	53089421	A	C	18	55422190	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	6.88864756717333E-4	0.004
18	53089421	A	G	18	55422190	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	6.88864756717333E-4	0.004
18	53089421	A	T	18	55422190	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	8.16602419096015E-4	0.008
18	53089422	C	A	18	55422191	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	8.8551835119743E-4	0.008
18	53089422	C	G	18	55422191	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	8.8551835119743E-4	0.006
18	53089422	C	T	18	55422191	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	8.8551835119743E-4	0.002
18	53089423	C	A	18	55422192	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.37966511774992E-5	0.016
18	53089423	C	G	18	55422192	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.37966511774992E-5	0.016
18	53089423	C	T	18	55422192	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.37966511774992E-5	0.016
18	53089424	T	A	18	55422193	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0045802311785222	0.018
18	53089424	T	C	18	55422193	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00316434947706365	0.018
18	53089424	T	G	18	55422193	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00316434947706365	0.018
18	53089425	T	A	18	55422194	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00676312259178108	0.014
18	53089425	T	C	18	55422194	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0045802311785222	0.014
18	53089425	T	G	18	55422194	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0045802311785222	0.014
18	53128242	G	A	18	55461011	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.28475376997949E-5	0.006
18	53128242	G	C	18	55461011	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.74364292996766E-5	0.004
18	53128242	G	T	18	55461011	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.69307272413568E-5	0.004
18	53128243	G	A	18	55461012	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.44537704952649E-4	0.002
18	53128243	G	C	18	55461012	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.07016094304005E-4	0.002
18	53128243	G	T	18	55461012	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.73161112018377E-4	0.0
18	53128244	T	A	18	55461013	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.17001539501525E-4	0.028
18	53128244	T	C	18	55461013	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.7075987837106E-4	0.006
18	53128244	T	G	18	55461013	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	9.11521380224229E-4	0.052
18	53128245	C	A	18	55461014	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999976008337081	0.984
18	53128245	C	G	18	55461014	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999988382048219	0.984
18	53128245	C	T	18	55461014	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999976008337081	0.996
18	53128246	T	A	18	55461015	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.998025340391062	0.934
18	53128246	T	C	18	55461015	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.997537386033893	0.988
18	53128246	T	G	18	55461015	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.996898203250773	0.936
18	53128247	T	A	18	55461016	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999901906040826	0.978
18	53128247	T	C	18	55461016	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.996073413146597	0.696
18	53128247	T	G	18	55461016	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999772660169507	0.95
18	53128248	A	C	18	55461017	y	y	splicing	TCF4(NM_001243226:exon7:c.610+2T>G;NM_001243230:exon5:c.298+2T>G;NM_001083962:exon6:c.304+2T>G;NM_003199:exon6:c.304+2T>G;NM_001243231:exon4:c.178+2T>G;NM_001243228:exon6:c.304+2T>G;NM_001243227:exon5:c.232+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.304+2T>G;ENST00000356073:exon6:c.304+2T>G;ENST00000568673:exon5:c.232+2T>G;ENST00000543082:exon4:c.178+2T>G;ENST00000540999:exon5:c.232+2T>G;ENST00000537578:exon5:c.232+2T>G;ENST00000564999:exon6:c.304+2T>G;ENST00000568740:exon5:c.232+2T>G;ENST00000565018:exon6:c.304+2T>G;ENST00000566279:exon6:c.304+2T>G;ENST00000566286:exon5:c.298+2T>G;ENST00000567880:exon5:c.304+2T>G;ENST00000398339:exon7:c.610+2T>G;ENST00000564403:exon6:c.304+2T>G;ENST00000566514:exon5:c.232+2T>G;ENST00000568169:exon5:c.316+2T>G;ENST00000565908:exon5:c.232+2T>G;ENST00000563824:exon4:c.232+2T>G;ENST00000568147:exon5:c.232+2T>G;ENST00000563888:exon5:c.232+2T>G;ENST00000564343:exon5:c.232+2T>G;ENST00000562543:exon6:c.304+2T>G;ENST00000562847:exon6:c.67+2T>G;ENST00000569357:exon6:c.232+2T>G)	.	.	0.999988247793601	0.93
18	53128248	A	G	18	55461017	y	y	splicing	TCF4(NM_001243226:exon7:c.610+2T>C;NM_001243230:exon5:c.298+2T>C;NM_001083962:exon6:c.304+2T>C;NM_003199:exon6:c.304+2T>C;NM_001243231:exon4:c.178+2T>C;NM_001243228:exon6:c.304+2T>C;NM_001243227:exon5:c.232+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.304+2T>C;ENST00000356073:exon6:c.304+2T>C;ENST00000568673:exon5:c.232+2T>C;ENST00000543082:exon4:c.178+2T>C;ENST00000540999:exon5:c.232+2T>C;ENST00000537578:exon5:c.232+2T>C;ENST00000564999:exon6:c.304+2T>C;ENST00000568740:exon5:c.232+2T>C;ENST00000565018:exon6:c.304+2T>C;ENST00000566279:exon6:c.304+2T>C;ENST00000566286:exon5:c.298+2T>C;ENST00000567880:exon5:c.304+2T>C;ENST00000398339:exon7:c.610+2T>C;ENST00000564403:exon6:c.304+2T>C;ENST00000566514:exon5:c.232+2T>C;ENST00000568169:exon5:c.316+2T>C;ENST00000565908:exon5:c.232+2T>C;ENST00000563824:exon4:c.232+2T>C;ENST00000568147:exon5:c.232+2T>C;ENST00000563888:exon5:c.232+2T>C;ENST00000564343:exon5:c.232+2T>C;ENST00000562543:exon6:c.304+2T>C;ENST00000562847:exon6:c.67+2T>C;ENST00000569357:exon6:c.232+2T>C)	.	.	0.997124086279712	0.704
18	53128248	A	T	18	55461017	y	y	splicing	TCF4(NM_001243226:exon7:c.610+2T>A;NM_001243230:exon5:c.298+2T>A;NM_001083962:exon6:c.304+2T>A;NM_003199:exon6:c.304+2T>A;NM_001243231:exon4:c.178+2T>A;NM_001243228:exon6:c.304+2T>A;NM_001243227:exon5:c.232+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.304+2T>A;ENST00000356073:exon6:c.304+2T>A;ENST00000568673:exon5:c.232+2T>A;ENST00000543082:exon4:c.178+2T>A;ENST00000540999:exon5:c.232+2T>A;ENST00000537578:exon5:c.232+2T>A;ENST00000564999:exon6:c.304+2T>A;ENST00000568740:exon5:c.232+2T>A;ENST00000565018:exon6:c.304+2T>A;ENST00000566279:exon6:c.304+2T>A;ENST00000566286:exon5:c.298+2T>A;ENST00000567880:exon5:c.304+2T>A;ENST00000398339:exon7:c.610+2T>A;ENST00000564403:exon6:c.304+2T>A;ENST00000566514:exon5:c.232+2T>A;ENST00000568169:exon5:c.316+2T>A;ENST00000565908:exon5:c.232+2T>A;ENST00000563824:exon4:c.232+2T>A;ENST00000568147:exon5:c.232+2T>A;ENST00000563888:exon5:c.232+2T>A;ENST00000564343:exon5:c.232+2T>A;ENST00000562543:exon6:c.304+2T>A;ENST00000562847:exon6:c.67+2T>A;ENST00000569357:exon6:c.232+2T>A)	.	.	0.999988247793601	0.93
18	53128249	C	A	18	55461018	y	y	splicing	TCF4(NM_001243226:exon7:c.610+1G>T;NM_001243230:exon5:c.298+1G>T;NM_001083962:exon6:c.304+1G>T;NM_003199:exon6:c.304+1G>T;NM_001243231:exon4:c.178+1G>T;NM_001243228:exon6:c.304+1G>T;NM_001243227:exon5:c.232+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.304+1G>T;ENST00000356073:exon6:c.304+1G>T;ENST00000568673:exon5:c.232+1G>T;ENST00000543082:exon4:c.178+1G>T;ENST00000540999:exon5:c.232+1G>T;ENST00000537578:exon5:c.232+1G>T;ENST00000564999:exon6:c.304+1G>T;ENST00000568740:exon5:c.232+1G>T;ENST00000565018:exon6:c.304+1G>T;ENST00000566279:exon6:c.304+1G>T;ENST00000566286:exon5:c.298+1G>T;ENST00000567880:exon5:c.304+1G>T;ENST00000398339:exon7:c.610+1G>T;ENST00000564403:exon6:c.304+1G>T;ENST00000566514:exon5:c.232+1G>T;ENST00000568169:exon5:c.316+1G>T;ENST00000565908:exon5:c.232+1G>T;ENST00000563824:exon4:c.232+1G>T;ENST00000568147:exon5:c.232+1G>T;ENST00000563888:exon5:c.232+1G>T;ENST00000564343:exon5:c.232+1G>T;ENST00000562543:exon6:c.304+1G>T;ENST00000562847:exon6:c.67+1G>T;ENST00000569357:exon6:c.232+1G>T)	.	.	0.999990361384395	0.938
18	53128249	C	G	18	55461018	y	y	splicing	TCF4(NM_001243226:exon7:c.610+1G>C;NM_001243230:exon5:c.298+1G>C;NM_001083962:exon6:c.304+1G>C;NM_003199:exon6:c.304+1G>C;NM_001243231:exon4:c.178+1G>C;NM_001243228:exon6:c.304+1G>C;NM_001243227:exon5:c.232+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.304+1G>C;ENST00000356073:exon6:c.304+1G>C;ENST00000568673:exon5:c.232+1G>C;ENST00000543082:exon4:c.178+1G>C;ENST00000540999:exon5:c.232+1G>C;ENST00000537578:exon5:c.232+1G>C;ENST00000564999:exon6:c.304+1G>C;ENST00000568740:exon5:c.232+1G>C;ENST00000565018:exon6:c.304+1G>C;ENST00000566279:exon6:c.304+1G>C;ENST00000566286:exon5:c.298+1G>C;ENST00000567880:exon5:c.304+1G>C;ENST00000398339:exon7:c.610+1G>C;ENST00000564403:exon6:c.304+1G>C;ENST00000566514:exon5:c.232+1G>C;ENST00000568169:exon5:c.316+1G>C;ENST00000565908:exon5:c.232+1G>C;ENST00000563824:exon4:c.232+1G>C;ENST00000568147:exon5:c.232+1G>C;ENST00000563888:exon5:c.232+1G>C;ENST00000564343:exon5:c.232+1G>C;ENST00000562543:exon6:c.304+1G>C;ENST00000562847:exon6:c.67+1G>C;ENST00000569357:exon6:c.232+1G>C)	.	.	0.999990361384395	0.938
18	53128249	C	T	18	55461018	y	y	splicing	TCF4(NM_001243226:exon7:c.610+1G>A;NM_001243230:exon5:c.298+1G>A;NM_001083962:exon6:c.304+1G>A;NM_003199:exon6:c.304+1G>A;NM_001243231:exon4:c.178+1G>A;NM_001243228:exon6:c.304+1G>A;NM_001243227:exon5:c.232+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.304+1G>A;ENST00000356073:exon6:c.304+1G>A;ENST00000568673:exon5:c.232+1G>A;ENST00000543082:exon4:c.178+1G>A;ENST00000540999:exon5:c.232+1G>A;ENST00000537578:exon5:c.232+1G>A;ENST00000564999:exon6:c.304+1G>A;ENST00000568740:exon5:c.232+1G>A;ENST00000565018:exon6:c.304+1G>A;ENST00000566279:exon6:c.304+1G>A;ENST00000566286:exon5:c.298+1G>A;ENST00000567880:exon5:c.304+1G>A;ENST00000398339:exon7:c.610+1G>A;ENST00000564403:exon6:c.304+1G>A;ENST00000566514:exon5:c.232+1G>A;ENST00000568169:exon5:c.316+1G>A;ENST00000565908:exon5:c.232+1G>A;ENST00000563824:exon4:c.232+1G>A;ENST00000568147:exon5:c.232+1G>A;ENST00000563888:exon5:c.232+1G>A;ENST00000564343:exon5:c.232+1G>A;ENST00000562543:exon6:c.304+1G>A;ENST00000562847:exon6:c.67+1G>A;ENST00000569357:exon6:c.232+1G>A)	.	.	0.999990361384395	0.938
18	53128250	T	A	18	55461019	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A178T:p.S60C;TCF4:NM_003199:exon5:c.A304T:p.S102C;TCF4:NM_001243230:exon4:c.A298T:p.S100C;TCF4:NM_001083962:exon5:c.A304T:p.S102C;TCF4:NM_001243227:exon4:c.A232T:p.S78C;TCF4:NM_001243226:exon6:c.A610T:p.S204C;TCF4:NM_001243228:exon5:c.A304T:p.S102C;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A304T:p.S102C;ENSG00000196628:ENST00000568169:exon4:c.A316T:p.S106C;ENSG00000196628:ENST00000564999:exon5:c.A304T:p.S102C;ENSG00000196628:ENST00000568740:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000565018:exon5:c.A304T:p.S102C;ENSG00000196628:ENST00000568147:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000354452:exon5:c.A304T:p.S102C;ENSG00000196628:ENST00000566286:exon4:c.A298T:p.S100C;ENSG00000196628:ENST00000566514:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000356073:exon5:c.A304T:p.S102C;ENSG00000196628:ENST00000564343:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000562543:exon5:c.A304T:p.S102C;ENSG00000196628:ENST00000543082:exon3:c.A178T:p.S60C;ENSG00000196628:ENST00000562847:exon5:c.A67T:p.S23C;ENSG00000196628:ENST00000537578:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000563888:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000564403:exon5:c.A304T:p.S102C;ENSG00000196628:ENST00000563824:exon3:c.A232T:p.S78C;ENSG00000196628:ENST00000565908:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000568673:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000540999:exon4:c.A232T:p.S78C;ENSG00000196628:ENST00000569357:exon5:c.A232T:p.S78C;ENSG00000196628:ENST00000398339:exon6:c.A610T:p.S204C;ENSG00000196628:ENST00000567880:exon4:c.A304T:p.S102C;	0.1197242448862	0.27
18	53128250	T	C	18	55461019	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A178G:p.S60G;TCF4:NM_003199:exon5:c.A304G:p.S102G;TCF4:NM_001243230:exon4:c.A298G:p.S100G;TCF4:NM_001083962:exon5:c.A304G:p.S102G;TCF4:NM_001243227:exon4:c.A232G:p.S78G;TCF4:NM_001243226:exon6:c.A610G:p.S204G;TCF4:NM_001243228:exon5:c.A304G:p.S102G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A304G:p.S102G;ENSG00000196628:ENST00000568169:exon4:c.A316G:p.S106G;ENSG00000196628:ENST00000564999:exon5:c.A304G:p.S102G;ENSG00000196628:ENST00000568740:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000565018:exon5:c.A304G:p.S102G;ENSG00000196628:ENST00000568147:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000354452:exon5:c.A304G:p.S102G;ENSG00000196628:ENST00000566286:exon4:c.A298G:p.S100G;ENSG00000196628:ENST00000566514:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000356073:exon5:c.A304G:p.S102G;ENSG00000196628:ENST00000564343:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000562543:exon5:c.A304G:p.S102G;ENSG00000196628:ENST00000543082:exon3:c.A178G:p.S60G;ENSG00000196628:ENST00000562847:exon5:c.A67G:p.S23G;ENSG00000196628:ENST00000537578:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000563888:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000564403:exon5:c.A304G:p.S102G;ENSG00000196628:ENST00000563824:exon3:c.A232G:p.S78G;ENSG00000196628:ENST00000565908:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000568673:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000540999:exon4:c.A232G:p.S78G;ENSG00000196628:ENST00000569357:exon5:c.A232G:p.S78G;ENSG00000196628:ENST00000398339:exon6:c.A610G:p.S204G;ENSG00000196628:ENST00000567880:exon4:c.A304G:p.S102G;	1.17688795975997E-4	0.284
18	53128250	T	G	18	55461019	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A178C:p.S60R;TCF4:NM_003199:exon5:c.A304C:p.S102R;TCF4:NM_001243230:exon4:c.A298C:p.S100R;TCF4:NM_001083962:exon5:c.A304C:p.S102R;TCF4:NM_001243227:exon4:c.A232C:p.S78R;TCF4:NM_001243226:exon6:c.A610C:p.S204R;TCF4:NM_001243228:exon5:c.A304C:p.S102R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A304C:p.S102R;ENSG00000196628:ENST00000568169:exon4:c.A316C:p.S106R;ENSG00000196628:ENST00000564999:exon5:c.A304C:p.S102R;ENSG00000196628:ENST00000568740:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000565018:exon5:c.A304C:p.S102R;ENSG00000196628:ENST00000568147:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000354452:exon5:c.A304C:p.S102R;ENSG00000196628:ENST00000566286:exon4:c.A298C:p.S100R;ENSG00000196628:ENST00000566514:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000356073:exon5:c.A304C:p.S102R;ENSG00000196628:ENST00000564343:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000562543:exon5:c.A304C:p.S102R;ENSG00000196628:ENST00000543082:exon3:c.A178C:p.S60R;ENSG00000196628:ENST00000562847:exon5:c.A67C:p.S23R;ENSG00000196628:ENST00000537578:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000563888:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000564403:exon5:c.A304C:p.S102R;ENSG00000196628:ENST00000563824:exon3:c.A232C:p.S78R;ENSG00000196628:ENST00000565908:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000568673:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000540999:exon4:c.A232C:p.S78R;ENSG00000196628:ENST00000569357:exon5:c.A232C:p.S78R;ENSG00000196628:ENST00000398339:exon6:c.A610C:p.S204R;ENSG00000196628:ENST00000567880:exon4:c.A304C:p.S102R;	0.0199908473876872	0.182
18	53128251	T	A	18	55461020	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A177T:p.Q59H;TCF4:NM_003199:exon5:c.A303T:p.Q101H;TCF4:NM_001243230:exon4:c.A297T:p.Q99H;TCF4:NM_001083962:exon5:c.A303T:p.Q101H;TCF4:NM_001243227:exon4:c.A231T:p.Q77H;TCF4:NM_001243226:exon6:c.A609T:p.Q203H;TCF4:NM_001243228:exon5:c.A303T:p.Q101H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A303T:p.Q101H;ENSG00000196628:ENST00000568169:exon4:c.A315T:p.Q105H;ENSG00000196628:ENST00000564999:exon5:c.A303T:p.Q101H;ENSG00000196628:ENST00000568740:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000565018:exon5:c.A303T:p.Q101H;ENSG00000196628:ENST00000568147:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000354452:exon5:c.A303T:p.Q101H;ENSG00000196628:ENST00000566286:exon4:c.A297T:p.Q99H;ENSG00000196628:ENST00000566514:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000356073:exon5:c.A303T:p.Q101H;ENSG00000196628:ENST00000564343:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000562543:exon5:c.A303T:p.Q101H;ENSG00000196628:ENST00000543082:exon3:c.A177T:p.Q59H;ENSG00000196628:ENST00000562847:exon5:c.A66T:p.Q22H;ENSG00000196628:ENST00000537578:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000563888:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000564403:exon5:c.A303T:p.Q101H;ENSG00000196628:ENST00000563824:exon3:c.A231T:p.Q77H;ENSG00000196628:ENST00000565908:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000568673:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000540999:exon4:c.A231T:p.Q77H;ENSG00000196628:ENST00000569357:exon5:c.A231T:p.Q77H;ENSG00000196628:ENST00000398339:exon6:c.A609T:p.Q203H;ENSG00000196628:ENST00000567880:exon4:c.A303T:p.Q101H;	0.996824932579272	0.942
18	53128251	T	C	18	55461020	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon3:c.A177G:p.Q59Q;TCF4:NM_003199:exon5:c.A303G:p.Q101Q;TCF4:NM_001243230:exon4:c.A297G:p.Q99Q;TCF4:NM_001083962:exon5:c.A303G:p.Q101Q;TCF4:NM_001243227:exon4:c.A231G:p.Q77Q;TCF4:NM_001243226:exon6:c.A609G:p.Q203Q;TCF4:NM_001243228:exon5:c.A303G:p.Q101Q;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A303G:p.Q101Q;ENSG00000196628:ENST00000568169:exon4:c.A315G:p.Q105Q;ENSG00000196628:ENST00000564999:exon5:c.A303G:p.Q101Q;ENSG00000196628:ENST00000568740:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000565018:exon5:c.A303G:p.Q101Q;ENSG00000196628:ENST00000568147:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000354452:exon5:c.A303G:p.Q101Q;ENSG00000196628:ENST00000566286:exon4:c.A297G:p.Q99Q;ENSG00000196628:ENST00000566514:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000356073:exon5:c.A303G:p.Q101Q;ENSG00000196628:ENST00000564343:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000562543:exon5:c.A303G:p.Q101Q;ENSG00000196628:ENST00000543082:exon3:c.A177G:p.Q59Q;ENSG00000196628:ENST00000562847:exon5:c.A66G:p.Q22Q;ENSG00000196628:ENST00000537578:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000563888:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000564403:exon5:c.A303G:p.Q101Q;ENSG00000196628:ENST00000563824:exon3:c.A231G:p.Q77Q;ENSG00000196628:ENST00000565908:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000568673:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000540999:exon4:c.A231G:p.Q77Q;ENSG00000196628:ENST00000569357:exon5:c.A231G:p.Q77Q;ENSG00000196628:ENST00000398339:exon6:c.A609G:p.Q203Q;ENSG00000196628:ENST00000567880:exon4:c.A303G:p.Q101Q;	0.991803712108564	0.87
18	53128251	T	G	18	55461020	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A177C:p.Q59H;TCF4:NM_003199:exon5:c.A303C:p.Q101H;TCF4:NM_001243230:exon4:c.A297C:p.Q99H;TCF4:NM_001083962:exon5:c.A303C:p.Q101H;TCF4:NM_001243227:exon4:c.A231C:p.Q77H;TCF4:NM_001243226:exon6:c.A609C:p.Q203H;TCF4:NM_001243228:exon5:c.A303C:p.Q101H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A303C:p.Q101H;ENSG00000196628:ENST00000568169:exon4:c.A315C:p.Q105H;ENSG00000196628:ENST00000564999:exon5:c.A303C:p.Q101H;ENSG00000196628:ENST00000568740:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000565018:exon5:c.A303C:p.Q101H;ENSG00000196628:ENST00000568147:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000354452:exon5:c.A303C:p.Q101H;ENSG00000196628:ENST00000566286:exon4:c.A297C:p.Q99H;ENSG00000196628:ENST00000566514:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000356073:exon5:c.A303C:p.Q101H;ENSG00000196628:ENST00000564343:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000562543:exon5:c.A303C:p.Q101H;ENSG00000196628:ENST00000543082:exon3:c.A177C:p.Q59H;ENSG00000196628:ENST00000562847:exon5:c.A66C:p.Q22H;ENSG00000196628:ENST00000537578:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000563888:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000564403:exon5:c.A303C:p.Q101H;ENSG00000196628:ENST00000563824:exon3:c.A231C:p.Q77H;ENSG00000196628:ENST00000565908:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000568673:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000540999:exon4:c.A231C:p.Q77H;ENSG00000196628:ENST00000569357:exon5:c.A231C:p.Q77H;ENSG00000196628:ENST00000398339:exon6:c.A609C:p.Q203H;ENSG00000196628:ENST00000567880:exon4:c.A303C:p.Q101H;	0.995326243163393	0.968
18	53128252	T	A	18	55461021	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A176T:p.Q59L;TCF4:NM_003199:exon5:c.A302T:p.Q101L;TCF4:NM_001243230:exon4:c.A296T:p.Q99L;TCF4:NM_001083962:exon5:c.A302T:p.Q101L;TCF4:NM_001243227:exon4:c.A230T:p.Q77L;TCF4:NM_001243226:exon6:c.A608T:p.Q203L;TCF4:NM_001243228:exon5:c.A302T:p.Q101L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A302T:p.Q101L;ENSG00000196628:ENST00000568169:exon4:c.A314T:p.Q105L;ENSG00000196628:ENST00000564999:exon5:c.A302T:p.Q101L;ENSG00000196628:ENST00000568740:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000565018:exon5:c.A302T:p.Q101L;ENSG00000196628:ENST00000568147:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000354452:exon5:c.A302T:p.Q101L;ENSG00000196628:ENST00000566286:exon4:c.A296T:p.Q99L;ENSG00000196628:ENST00000566514:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000356073:exon5:c.A302T:p.Q101L;ENSG00000196628:ENST00000564343:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000562543:exon5:c.A302T:p.Q101L;ENSG00000196628:ENST00000543082:exon3:c.A176T:p.Q59L;ENSG00000196628:ENST00000562847:exon5:c.A65T:p.Q22L;ENSG00000196628:ENST00000537578:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000563888:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000564403:exon5:c.A302T:p.Q101L;ENSG00000196628:ENST00000563824:exon3:c.A230T:p.Q77L;ENSG00000196628:ENST00000565908:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000568673:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000540999:exon4:c.A230T:p.Q77L;ENSG00000196628:ENST00000569357:exon5:c.A230T:p.Q77L;ENSG00000196628:ENST00000398339:exon6:c.A608T:p.Q203L;ENSG00000196628:ENST00000567880:exon4:c.A302T:p.Q101L;	0.359942752776833	0.458
18	53128252	T	C	18	55461021	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A176G:p.Q59R;TCF4:NM_003199:exon5:c.A302G:p.Q101R;TCF4:NM_001243230:exon4:c.A296G:p.Q99R;TCF4:NM_001083962:exon5:c.A302G:p.Q101R;TCF4:NM_001243227:exon4:c.A230G:p.Q77R;TCF4:NM_001243226:exon6:c.A608G:p.Q203R;TCF4:NM_001243228:exon5:c.A302G:p.Q101R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A302G:p.Q101R;ENSG00000196628:ENST00000568169:exon4:c.A314G:p.Q105R;ENSG00000196628:ENST00000564999:exon5:c.A302G:p.Q101R;ENSG00000196628:ENST00000568740:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000565018:exon5:c.A302G:p.Q101R;ENSG00000196628:ENST00000568147:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000354452:exon5:c.A302G:p.Q101R;ENSG00000196628:ENST00000566286:exon4:c.A296G:p.Q99R;ENSG00000196628:ENST00000566514:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000356073:exon5:c.A302G:p.Q101R;ENSG00000196628:ENST00000564343:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000562543:exon5:c.A302G:p.Q101R;ENSG00000196628:ENST00000543082:exon3:c.A176G:p.Q59R;ENSG00000196628:ENST00000562847:exon5:c.A65G:p.Q22R;ENSG00000196628:ENST00000537578:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000563888:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000564403:exon5:c.A302G:p.Q101R;ENSG00000196628:ENST00000563824:exon3:c.A230G:p.Q77R;ENSG00000196628:ENST00000565908:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000568673:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000540999:exon4:c.A230G:p.Q77R;ENSG00000196628:ENST00000569357:exon5:c.A230G:p.Q77R;ENSG00000196628:ENST00000398339:exon6:c.A608G:p.Q203R;ENSG00000196628:ENST00000567880:exon4:c.A302G:p.Q101R;	0.0312481650838422	0.264
18	53128252	T	G	18	55461021	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A176C:p.Q59P;TCF4:NM_003199:exon5:c.A302C:p.Q101P;TCF4:NM_001243230:exon4:c.A296C:p.Q99P;TCF4:NM_001083962:exon5:c.A302C:p.Q101P;TCF4:NM_001243227:exon4:c.A230C:p.Q77P;TCF4:NM_001243226:exon6:c.A608C:p.Q203P;TCF4:NM_001243228:exon5:c.A302C:p.Q101P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A302C:p.Q101P;ENSG00000196628:ENST00000568169:exon4:c.A314C:p.Q105P;ENSG00000196628:ENST00000564999:exon5:c.A302C:p.Q101P;ENSG00000196628:ENST00000568740:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000565018:exon5:c.A302C:p.Q101P;ENSG00000196628:ENST00000568147:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000354452:exon5:c.A302C:p.Q101P;ENSG00000196628:ENST00000566286:exon4:c.A296C:p.Q99P;ENSG00000196628:ENST00000566514:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000356073:exon5:c.A302C:p.Q101P;ENSG00000196628:ENST00000564343:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000562543:exon5:c.A302C:p.Q101P;ENSG00000196628:ENST00000543082:exon3:c.A176C:p.Q59P;ENSG00000196628:ENST00000562847:exon5:c.A65C:p.Q22P;ENSG00000196628:ENST00000537578:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000563888:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000564403:exon5:c.A302C:p.Q101P;ENSG00000196628:ENST00000563824:exon3:c.A230C:p.Q77P;ENSG00000196628:ENST00000565908:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000568673:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000540999:exon4:c.A230C:p.Q77P;ENSG00000196628:ENST00000569357:exon5:c.A230C:p.Q77P;ENSG00000196628:ENST00000398339:exon6:c.A608C:p.Q203P;ENSG00000196628:ENST00000567880:exon4:c.A302C:p.Q101P;	0.23326120863641	0.462
18	53128345	T	A	18	55461114	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A83T:p.N28I;TCF4:NM_003199:exon5:c.A209T:p.N70I;TCF4:NM_001243230:exon4:c.A203T:p.N68I;TCF4:NM_001083962:exon5:c.A209T:p.N70I;TCF4:NM_001243227:exon4:c.A137T:p.N46I;TCF4:NM_001243226:exon6:c.A515T:p.N172I;TCF4:NM_001243228:exon5:c.A209T:p.N70I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A209T:p.N70I;ENSG00000196628:ENST00000568169:exon4:c.A221T:p.N74I;ENSG00000196628:ENST00000564999:exon5:c.A209T:p.N70I;ENSG00000196628:ENST00000568740:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000565018:exon5:c.A209T:p.N70I;ENSG00000196628:ENST00000568147:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000354452:exon5:c.A209T:p.N70I;ENSG00000196628:ENST00000566286:exon4:c.A203T:p.N68I;ENSG00000196628:ENST00000566514:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000356073:exon5:c.A209T:p.N70I;ENSG00000196628:ENST00000564343:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000562543:exon5:c.A209T:p.N70I;ENSG00000196628:ENST00000543082:exon3:c.A83T:p.N28I;ENSG00000196628:ENST00000537578:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000563888:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000564403:exon5:c.A209T:p.N70I;ENSG00000196628:ENST00000563824:exon3:c.A137T:p.N46I;ENSG00000196628:ENST00000565908:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000568673:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000540999:exon4:c.A137T:p.N46I;ENSG00000196628:ENST00000569357:exon5:c.A137T:p.N46I;ENSG00000196628:ENST00000398339:exon6:c.A515T:p.N172I;ENSG00000196628:ENST00000567880:exon4:c.A209T:p.N70I;	0.892511770558975	0.744
18	53128345	T	C	18	55461114	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A83G:p.N28S;TCF4:NM_003199:exon5:c.A209G:p.N70S;TCF4:NM_001243230:exon4:c.A203G:p.N68S;TCF4:NM_001083962:exon5:c.A209G:p.N70S;TCF4:NM_001243227:exon4:c.A137G:p.N46S;TCF4:NM_001243226:exon6:c.A515G:p.N172S;TCF4:NM_001243228:exon5:c.A209G:p.N70S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A209G:p.N70S;ENSG00000196628:ENST00000568169:exon4:c.A221G:p.N74S;ENSG00000196628:ENST00000564999:exon5:c.A209G:p.N70S;ENSG00000196628:ENST00000568740:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000565018:exon5:c.A209G:p.N70S;ENSG00000196628:ENST00000568147:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000354452:exon5:c.A209G:p.N70S;ENSG00000196628:ENST00000566286:exon4:c.A203G:p.N68S;ENSG00000196628:ENST00000566514:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000356073:exon5:c.A209G:p.N70S;ENSG00000196628:ENST00000564343:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000562543:exon5:c.A209G:p.N70S;ENSG00000196628:ENST00000543082:exon3:c.A83G:p.N28S;ENSG00000196628:ENST00000537578:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000563888:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000564403:exon5:c.A209G:p.N70S;ENSG00000196628:ENST00000563824:exon3:c.A137G:p.N46S;ENSG00000196628:ENST00000565908:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000568673:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000540999:exon4:c.A137G:p.N46S;ENSG00000196628:ENST00000569357:exon5:c.A137G:p.N46S;ENSG00000196628:ENST00000398339:exon6:c.A515G:p.N172S;ENSG00000196628:ENST00000567880:exon4:c.A209G:p.N70S;	0.00123008557902245	0.028
18	53128345	T	G	18	55461114	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A83C:p.N28T;TCF4:NM_003199:exon5:c.A209C:p.N70T;TCF4:NM_001243230:exon4:c.A203C:p.N68T;TCF4:NM_001083962:exon5:c.A209C:p.N70T;TCF4:NM_001243227:exon4:c.A137C:p.N46T;TCF4:NM_001243226:exon6:c.A515C:p.N172T;TCF4:NM_001243228:exon5:c.A209C:p.N70T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A209C:p.N70T;ENSG00000196628:ENST00000568169:exon4:c.A221C:p.N74T;ENSG00000196628:ENST00000564999:exon5:c.A209C:p.N70T;ENSG00000196628:ENST00000568740:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000565018:exon5:c.A209C:p.N70T;ENSG00000196628:ENST00000568147:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000354452:exon5:c.A209C:p.N70T;ENSG00000196628:ENST00000566286:exon4:c.A203C:p.N68T;ENSG00000196628:ENST00000566514:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000356073:exon5:c.A209C:p.N70T;ENSG00000196628:ENST00000564343:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000562543:exon5:c.A209C:p.N70T;ENSG00000196628:ENST00000543082:exon3:c.A83C:p.N28T;ENSG00000196628:ENST00000537578:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000563888:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000564403:exon5:c.A209C:p.N70T;ENSG00000196628:ENST00000563824:exon3:c.A137C:p.N46T;ENSG00000196628:ENST00000565908:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000568673:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000540999:exon4:c.A137C:p.N46T;ENSG00000196628:ENST00000569357:exon5:c.A137C:p.N46T;ENSG00000196628:ENST00000398339:exon6:c.A515C:p.N172T;ENSG00000196628:ENST00000567880:exon4:c.A209C:p.N70T;	6.64322860116863E-4	0.042
18	53128346	T	A	18	55461115	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A82T:p.N28Y;TCF4:NM_003199:exon5:c.A208T:p.N70Y;TCF4:NM_001243230:exon4:c.A202T:p.N68Y;TCF4:NM_001083962:exon5:c.A208T:p.N70Y;TCF4:NM_001243227:exon4:c.A136T:p.N46Y;TCF4:NM_001243226:exon6:c.A514T:p.N172Y;TCF4:NM_001243228:exon5:c.A208T:p.N70Y;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A208T:p.N70Y;ENSG00000196628:ENST00000568169:exon4:c.A220T:p.N74Y;ENSG00000196628:ENST00000564999:exon5:c.A208T:p.N70Y;ENSG00000196628:ENST00000568740:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000565018:exon5:c.A208T:p.N70Y;ENSG00000196628:ENST00000568147:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000354452:exon5:c.A208T:p.N70Y;ENSG00000196628:ENST00000566286:exon4:c.A202T:p.N68Y;ENSG00000196628:ENST00000566514:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000356073:exon5:c.A208T:p.N70Y;ENSG00000196628:ENST00000564343:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000562543:exon5:c.A208T:p.N70Y;ENSG00000196628:ENST00000543082:exon3:c.A82T:p.N28Y;ENSG00000196628:ENST00000537578:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000563888:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000564403:exon5:c.A208T:p.N70Y;ENSG00000196628:ENST00000563824:exon3:c.A136T:p.N46Y;ENSG00000196628:ENST00000565908:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000568673:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000540999:exon4:c.A136T:p.N46Y;ENSG00000196628:ENST00000569357:exon5:c.A136T:p.N46Y;ENSG00000196628:ENST00000398339:exon6:c.A514T:p.N172Y;ENSG00000196628:ENST00000567880:exon4:c.A208T:p.N70Y;	0.601710744577057	0.604
18	53128346	T	C	18	55461115	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A82G:p.N28D;TCF4:NM_003199:exon5:c.A208G:p.N70D;TCF4:NM_001243230:exon4:c.A202G:p.N68D;TCF4:NM_001083962:exon5:c.A208G:p.N70D;TCF4:NM_001243227:exon4:c.A136G:p.N46D;TCF4:NM_001243226:exon6:c.A514G:p.N172D;TCF4:NM_001243228:exon5:c.A208G:p.N70D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A208G:p.N70D;ENSG00000196628:ENST00000568169:exon4:c.A220G:p.N74D;ENSG00000196628:ENST00000564999:exon5:c.A208G:p.N70D;ENSG00000196628:ENST00000568740:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000565018:exon5:c.A208G:p.N70D;ENSG00000196628:ENST00000568147:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000354452:exon5:c.A208G:p.N70D;ENSG00000196628:ENST00000566286:exon4:c.A202G:p.N68D;ENSG00000196628:ENST00000566514:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000356073:exon5:c.A208G:p.N70D;ENSG00000196628:ENST00000564343:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000562543:exon5:c.A208G:p.N70D;ENSG00000196628:ENST00000543082:exon3:c.A82G:p.N28D;ENSG00000196628:ENST00000537578:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000563888:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000564403:exon5:c.A208G:p.N70D;ENSG00000196628:ENST00000563824:exon3:c.A136G:p.N46D;ENSG00000196628:ENST00000565908:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000568673:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000540999:exon4:c.A136G:p.N46D;ENSG00000196628:ENST00000569357:exon5:c.A136G:p.N46D;ENSG00000196628:ENST00000398339:exon6:c.A514G:p.N172D;ENSG00000196628:ENST00000567880:exon4:c.A208G:p.N70D;	0.701500988212742	0.602
18	53128346	T	G	18	55461115	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon3:c.A82C:p.N28H;TCF4:NM_003199:exon5:c.A208C:p.N70H;TCF4:NM_001243230:exon4:c.A202C:p.N68H;TCF4:NM_001083962:exon5:c.A208C:p.N70H;TCF4:NM_001243227:exon4:c.A136C:p.N46H;TCF4:NM_001243226:exon6:c.A514C:p.N172H;TCF4:NM_001243228:exon5:c.A208C:p.N70H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon5:c.A208C:p.N70H;ENSG00000196628:ENST00000568169:exon4:c.A220C:p.N74H;ENSG00000196628:ENST00000564999:exon5:c.A208C:p.N70H;ENSG00000196628:ENST00000568740:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000565018:exon5:c.A208C:p.N70H;ENSG00000196628:ENST00000568147:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000354452:exon5:c.A208C:p.N70H;ENSG00000196628:ENST00000566286:exon4:c.A202C:p.N68H;ENSG00000196628:ENST00000566514:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000356073:exon5:c.A208C:p.N70H;ENSG00000196628:ENST00000564343:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000562543:exon5:c.A208C:p.N70H;ENSG00000196628:ENST00000543082:exon3:c.A82C:p.N28H;ENSG00000196628:ENST00000537578:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000563888:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000564403:exon5:c.A208C:p.N70H;ENSG00000196628:ENST00000563824:exon3:c.A136C:p.N46H;ENSG00000196628:ENST00000565908:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000568673:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000540999:exon4:c.A136C:p.N46H;ENSG00000196628:ENST00000569357:exon5:c.A136C:p.N46H;ENSG00000196628:ENST00000398339:exon6:c.A514C:p.N172H;ENSG00000196628:ENST00000567880:exon4:c.A208C:p.N70H;	0.547147985128258	0.664
18	53128347	C	A	18	55461116	y	y	splicing	TCF4(NM_001243226:exon7:c.514-1G>T;NM_001243230:exon5:c.202-1G>T;NM_001083962:exon6:c.208-1G>T;NM_003199:exon6:c.208-1G>T;NM_001243231:exon4:c.82-1G>T;NM_001243228:exon6:c.208-1G>T;NM_001243227:exon5:c.136-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.208-1G>T;ENST00000356073:exon6:c.208-1G>T;ENST00000568673:exon5:c.136-1G>T;ENST00000543082:exon4:c.82-1G>T;ENST00000540999:exon5:c.136-1G>T;ENST00000537578:exon5:c.136-1G>T;ENST00000564999:exon6:c.208-1G>T;ENST00000568740:exon5:c.136-1G>T;ENST00000565018:exon6:c.208-1G>T;ENST00000566279:exon6:c.208-1G>T;ENST00000566286:exon5:c.202-1G>T;ENST00000567880:exon5:c.208-1G>T;ENST00000398339:exon7:c.514-1G>T;ENST00000564403:exon6:c.208-1G>T;ENST00000566514:exon5:c.136-1G>T;ENST00000568169:exon5:c.220-1G>T;ENST00000565908:exon5:c.136-1G>T;ENST00000563824:exon4:c.136-1G>T;ENST00000568147:exon5:c.136-1G>T;ENST00000563888:exon5:c.136-1G>T;ENST00000564343:exon5:c.136-1G>T;ENST00000562543:exon6:c.208-1G>T;ENST00000569357:exon6:c.136-1G>T)	.	.	0.999990361384395	0.938
18	53128347	C	G	18	55461116	y	y	splicing	TCF4(NM_001243226:exon7:c.514-1G>C;NM_001243230:exon5:c.202-1G>C;NM_001083962:exon6:c.208-1G>C;NM_003199:exon6:c.208-1G>C;NM_001243231:exon4:c.82-1G>C;NM_001243228:exon6:c.208-1G>C;NM_001243227:exon5:c.136-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.208-1G>C;ENST00000356073:exon6:c.208-1G>C;ENST00000568673:exon5:c.136-1G>C;ENST00000543082:exon4:c.82-1G>C;ENST00000540999:exon5:c.136-1G>C;ENST00000537578:exon5:c.136-1G>C;ENST00000564999:exon6:c.208-1G>C;ENST00000568740:exon5:c.136-1G>C;ENST00000565018:exon6:c.208-1G>C;ENST00000566279:exon6:c.208-1G>C;ENST00000566286:exon5:c.202-1G>C;ENST00000567880:exon5:c.208-1G>C;ENST00000398339:exon7:c.514-1G>C;ENST00000564403:exon6:c.208-1G>C;ENST00000566514:exon5:c.136-1G>C;ENST00000568169:exon5:c.220-1G>C;ENST00000565908:exon5:c.136-1G>C;ENST00000563824:exon4:c.136-1G>C;ENST00000568147:exon5:c.136-1G>C;ENST00000563888:exon5:c.136-1G>C;ENST00000564343:exon5:c.136-1G>C;ENST00000562543:exon6:c.208-1G>C;ENST00000569357:exon6:c.136-1G>C)	.	.	0.999990361384395	0.938
18	53128347	C	T	18	55461116	y	y	splicing	TCF4(NM_001243226:exon7:c.514-1G>A;NM_001243230:exon5:c.202-1G>A;NM_001083962:exon6:c.208-1G>A;NM_003199:exon6:c.208-1G>A;NM_001243231:exon4:c.82-1G>A;NM_001243228:exon6:c.208-1G>A;NM_001243227:exon5:c.136-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.208-1G>A;ENST00000356073:exon6:c.208-1G>A;ENST00000568673:exon5:c.136-1G>A;ENST00000543082:exon4:c.82-1G>A;ENST00000540999:exon5:c.136-1G>A;ENST00000537578:exon5:c.136-1G>A;ENST00000564999:exon6:c.208-1G>A;ENST00000568740:exon5:c.136-1G>A;ENST00000565018:exon6:c.208-1G>A;ENST00000566279:exon6:c.208-1G>A;ENST00000566286:exon5:c.202-1G>A;ENST00000567880:exon5:c.208-1G>A;ENST00000398339:exon7:c.514-1G>A;ENST00000564403:exon6:c.208-1G>A;ENST00000566514:exon5:c.136-1G>A;ENST00000568169:exon5:c.220-1G>A;ENST00000565908:exon5:c.136-1G>A;ENST00000563824:exon4:c.136-1G>A;ENST00000568147:exon5:c.136-1G>A;ENST00000563888:exon5:c.136-1G>A;ENST00000564343:exon5:c.136-1G>A;ENST00000562543:exon6:c.208-1G>A;ENST00000569357:exon6:c.136-1G>A)	.	.	0.999990361384395	0.938
18	53128348	T	A	18	55461117	y	y	splicing	TCF4(NM_001243226:exon7:c.514-2A>T;NM_001243230:exon5:c.202-2A>T;NM_001083962:exon6:c.208-2A>T;NM_003199:exon6:c.208-2A>T;NM_001243231:exon4:c.82-2A>T;NM_001243228:exon6:c.208-2A>T;NM_001243227:exon5:c.136-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.208-2A>T;ENST00000356073:exon6:c.208-2A>T;ENST00000568673:exon5:c.136-2A>T;ENST00000543082:exon4:c.82-2A>T;ENST00000540999:exon5:c.136-2A>T;ENST00000537578:exon5:c.136-2A>T;ENST00000564999:exon6:c.208-2A>T;ENST00000568740:exon5:c.136-2A>T;ENST00000565018:exon6:c.208-2A>T;ENST00000566279:exon6:c.208-2A>T;ENST00000566286:exon5:c.202-2A>T;ENST00000567880:exon5:c.208-2A>T;ENST00000398339:exon7:c.514-2A>T;ENST00000564403:exon6:c.208-2A>T;ENST00000566514:exon5:c.136-2A>T;ENST00000568169:exon5:c.220-2A>T;ENST00000565908:exon5:c.136-2A>T;ENST00000563824:exon4:c.136-2A>T;ENST00000568147:exon5:c.136-2A>T;ENST00000563888:exon5:c.136-2A>T;ENST00000564343:exon5:c.136-2A>T;ENST00000562543:exon6:c.208-2A>T;ENST00000569357:exon6:c.136-2A>T)	.	.	0.999988247793601	0.93
18	53128348	T	C	18	55461117	y	y	splicing	TCF4(NM_001243226:exon7:c.514-2A>G;NM_001243230:exon5:c.202-2A>G;NM_001083962:exon6:c.208-2A>G;NM_003199:exon6:c.208-2A>G;NM_001243231:exon4:c.82-2A>G;NM_001243228:exon6:c.208-2A>G;NM_001243227:exon5:c.136-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.208-2A>G;ENST00000356073:exon6:c.208-2A>G;ENST00000568673:exon5:c.136-2A>G;ENST00000543082:exon4:c.82-2A>G;ENST00000540999:exon5:c.136-2A>G;ENST00000537578:exon5:c.136-2A>G;ENST00000564999:exon6:c.208-2A>G;ENST00000568740:exon5:c.136-2A>G;ENST00000565018:exon6:c.208-2A>G;ENST00000566279:exon6:c.208-2A>G;ENST00000566286:exon5:c.202-2A>G;ENST00000567880:exon5:c.208-2A>G;ENST00000398339:exon7:c.514-2A>G;ENST00000564403:exon6:c.208-2A>G;ENST00000566514:exon5:c.136-2A>G;ENST00000568169:exon5:c.220-2A>G;ENST00000565908:exon5:c.136-2A>G;ENST00000563824:exon4:c.136-2A>G;ENST00000568147:exon5:c.136-2A>G;ENST00000563888:exon5:c.136-2A>G;ENST00000564343:exon5:c.136-2A>G;ENST00000562543:exon6:c.208-2A>G;ENST00000569357:exon6:c.136-2A>G)	.	.	0.999988247793601	0.928
18	53128348	T	G	18	55461117	y	y	splicing	TCF4(NM_001243226:exon7:c.514-2A>C;NM_001243230:exon5:c.202-2A>C;NM_001083962:exon6:c.208-2A>C;NM_003199:exon6:c.208-2A>C;NM_001243231:exon4:c.82-2A>C;NM_001243228:exon6:c.208-2A>C;NM_001243227:exon5:c.136-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon6:c.208-2A>C;ENST00000356073:exon6:c.208-2A>C;ENST00000568673:exon5:c.136-2A>C;ENST00000543082:exon4:c.82-2A>C;ENST00000540999:exon5:c.136-2A>C;ENST00000537578:exon5:c.136-2A>C;ENST00000564999:exon6:c.208-2A>C;ENST00000568740:exon5:c.136-2A>C;ENST00000565018:exon6:c.208-2A>C;ENST00000566279:exon6:c.208-2A>C;ENST00000566286:exon5:c.202-2A>C;ENST00000567880:exon5:c.208-2A>C;ENST00000398339:exon7:c.514-2A>C;ENST00000564403:exon6:c.208-2A>C;ENST00000566514:exon5:c.136-2A>C;ENST00000568169:exon5:c.220-2A>C;ENST00000565908:exon5:c.136-2A>C;ENST00000563824:exon4:c.136-2A>C;ENST00000568147:exon5:c.136-2A>C;ENST00000563888:exon5:c.136-2A>C;ENST00000564343:exon5:c.136-2A>C;ENST00000562543:exon6:c.208-2A>C;ENST00000569357:exon6:c.136-2A>C)	.	.	0.999988247793601	0.928
18	53128349	G	A	18	55461118	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.71823142038978	0.29
18	53128349	G	C	18	55461118	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999958795071916	0.946
18	53128349	G	T	18	55461118	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999949087519374	0.934
18	53128350	T	A	18	55461119	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	7.18211921578269E-5	0.012
18	53128350	T	C	18	55461119	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.62661452654708E-5	0.002
18	53128350	T	G	18	55461119	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	7.6991265827E-5	0.0
18	53128351	A	C	18	55461120	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.875230878245436	0.588
18	53128351	A	G	18	55461120	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0335352986643943	0.164
18	53128351	A	T	18	55461120	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.955701059864975	0.678
18	53128352	A	C	18	55461121	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.398501174730755	0.496
18	53128352	A	G	18	55461121	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.42296599627361E-4	0.03
18	53128352	A	T	18	55461121	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.465185331819943	0.456
18	53128353	A	C	18	55461122	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999942118238054	0.988
18	53128353	A	G	18	55461122	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.75511943512399E-5	0.0
18	53128353	A	T	18	55461122	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.123803883767138	0.328
18	53128354	T	A	18	55461123	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.13123535482225E-5	0.002
18	53128354	T	C	18	55461123	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	9.72562372875722E-5	0.0
18	53128354	T	G	18	55461123	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.18353765269913E-4	0.008
18	53128355	A	C	18	55461124	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.00394541321519276	0.09
18	53128355	A	G	18	55461124	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.58591115629283E-5	0.014
18	53128355	A	T	18	55461124	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.00125999846357262	0.09
18	53128356	A	C	18	55461125	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.245515306126051	0.538
18	53128356	A	G	18	55461125	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	4.15919213379316E-4	0.03
18	53128356	A	T	18	55461125	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.747118031262763	0.672
18	53128357	A	C	18	55461126	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.489789448441123	0.512
18	53128357	A	G	18	55461126	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0216672382770158	0.192
18	53128357	A	T	18	55461126	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.766134969715355	0.554
18	53128358	A	C	18	55461127	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999824416118382	0.956
18	53128358	A	G	18	55461127	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0034476164763099	0.13
18	53128358	A	T	18	55461127	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.313098887999159	0.518
18	53131299	A	C	18	55464068	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.135857350387406	0.384
18	53131299	A	G	18	55464068	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.128274044152589	0.508
18	53131299	A	T	18	55464068	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.17713428452202	0.336
18	53131300	T	A	18	55464069	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0282747499911102	0.144
18	53131300	T	C	18	55464069	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0238273648531443	0.082
18	53131300	T	G	18	55464069	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0284844574534807	0.142
18	53131301	A	C	18	55464070	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.88487957022527	0.414
18	53131301	A	G	18	55464070	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.901069546504383	0.536
18	53131301	A	T	18	55464070	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.923154769590375	0.51
18	53131302	C	A	18	55464071	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.998971254796298	0.862
18	53131302	C	G	18	55464071	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999166976117329	0.904
18	53131302	C	T	18	55464071	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.998709949350678	0.94
18	53131303	T	A	18	55464072	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.987036809559453	0.754
18	53131303	T	C	18	55464072	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.982897582276187	0.724
18	53131303	T	G	18	55464072	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.973481322350152	0.788
18	53131304	T	A	18	55464073	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.991320620308126	0.86
18	53131304	T	C	18	55464073	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.728735989962525	0.382
18	53131304	T	G	18	55464073	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.998648283549521	0.954
18	53131305	A	C	18	55464074	y	y	splicing	TCF4(NM_001243226:exon6:c.513+2T>G;NM_001243230:exon4:c.201+2T>G;NM_001083962:exon5:c.207+2T>G;NM_003199:exon5:c.207+2T>G;NM_001243231:exon3:c.81+2T>G;NM_001243228:exon5:c.207+2T>G;NM_001243227:exon4:c.135+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.207+2T>G;ENST00000356073:exon5:c.207+2T>G;ENST00000568673:exon4:c.135+2T>G;ENST00000543082:exon3:c.81+2T>G;ENST00000540999:exon4:c.135+2T>G;ENST00000537578:exon4:c.135+2T>G;ENST00000564999:exon5:c.207+2T>G;ENST00000568740:exon4:c.135+2T>G;ENST00000565018:exon5:c.207+2T>G;ENST00000566279:exon5:c.207+2T>G;ENST00000566286:exon4:c.201+2T>G;ENST00000567880:exon4:c.207+2T>G;ENST00000398339:exon6:c.513+2T>G;ENST00000564403:exon5:c.207+2T>G;ENST00000566514:exon4:c.135+2T>G;ENST00000568169:exon4:c.219+2T>G;ENST00000565908:exon4:c.135+2T>G;ENST00000563824:exon3:c.135+2T>G;ENST00000568147:exon4:c.135+2T>G;ENST00000563888:exon4:c.135+2T>G;ENST00000564343:exon4:c.135+2T>G;ENST00000562543:exon5:c.207+2T>G;ENST00000569357:exon5:c.135+2T>G)	.	.	0.999989917668626	0.926
18	53131305	A	G	18	55464074	y	y	splicing	TCF4(NM_001243226:exon6:c.513+2T>C;NM_001243230:exon4:c.201+2T>C;NM_001083962:exon5:c.207+2T>C;NM_003199:exon5:c.207+2T>C;NM_001243231:exon3:c.81+2T>C;NM_001243228:exon5:c.207+2T>C;NM_001243227:exon4:c.135+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.207+2T>C;ENST00000356073:exon5:c.207+2T>C;ENST00000568673:exon4:c.135+2T>C;ENST00000543082:exon3:c.81+2T>C;ENST00000540999:exon4:c.135+2T>C;ENST00000537578:exon4:c.135+2T>C;ENST00000564999:exon5:c.207+2T>C;ENST00000568740:exon4:c.135+2T>C;ENST00000565018:exon5:c.207+2T>C;ENST00000566279:exon5:c.207+2T>C;ENST00000566286:exon4:c.201+2T>C;ENST00000567880:exon4:c.207+2T>C;ENST00000398339:exon6:c.513+2T>C;ENST00000564403:exon5:c.207+2T>C;ENST00000566514:exon4:c.135+2T>C;ENST00000568169:exon4:c.219+2T>C;ENST00000565908:exon4:c.135+2T>C;ENST00000563824:exon3:c.135+2T>C;ENST00000568147:exon4:c.135+2T>C;ENST00000563888:exon4:c.135+2T>C;ENST00000564343:exon4:c.135+2T>C;ENST00000562543:exon5:c.207+2T>C;ENST00000569357:exon5:c.135+2T>C)	.	.	0.986528855787127	0.614
18	53131305	A	T	18	55464074	y	y	splicing	TCF4(NM_001243226:exon6:c.513+2T>A;NM_001243230:exon4:c.201+2T>A;NM_001083962:exon5:c.207+2T>A;NM_003199:exon5:c.207+2T>A;NM_001243231:exon3:c.81+2T>A;NM_001243228:exon5:c.207+2T>A;NM_001243227:exon4:c.135+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.207+2T>A;ENST00000356073:exon5:c.207+2T>A;ENST00000568673:exon4:c.135+2T>A;ENST00000543082:exon3:c.81+2T>A;ENST00000540999:exon4:c.135+2T>A;ENST00000537578:exon4:c.135+2T>A;ENST00000564999:exon5:c.207+2T>A;ENST00000568740:exon4:c.135+2T>A;ENST00000565018:exon5:c.207+2T>A;ENST00000566279:exon5:c.207+2T>A;ENST00000566286:exon4:c.201+2T>A;ENST00000567880:exon4:c.207+2T>A;ENST00000398339:exon6:c.513+2T>A;ENST00000564403:exon5:c.207+2T>A;ENST00000566514:exon4:c.135+2T>A;ENST00000568169:exon4:c.219+2T>A;ENST00000565908:exon4:c.135+2T>A;ENST00000563824:exon3:c.135+2T>A;ENST00000568147:exon4:c.135+2T>A;ENST00000563888:exon4:c.135+2T>A;ENST00000564343:exon4:c.135+2T>A;ENST00000562543:exon5:c.207+2T>A;ENST00000569357:exon5:c.135+2T>A)	.	.	0.999989917668626	0.926
18	53131306	C	A	18	55464075	y	y	splicing	TCF4(NM_001243226:exon6:c.513+1G>T;NM_001243230:exon4:c.201+1G>T;NM_001083962:exon5:c.207+1G>T;NM_003199:exon5:c.207+1G>T;NM_001243231:exon3:c.81+1G>T;NM_001243228:exon5:c.207+1G>T;NM_001243227:exon4:c.135+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.207+1G>T;ENST00000356073:exon5:c.207+1G>T;ENST00000568673:exon4:c.135+1G>T;ENST00000543082:exon3:c.81+1G>T;ENST00000540999:exon4:c.135+1G>T;ENST00000537578:exon4:c.135+1G>T;ENST00000564999:exon5:c.207+1G>T;ENST00000568740:exon4:c.135+1G>T;ENST00000565018:exon5:c.207+1G>T;ENST00000566279:exon5:c.207+1G>T;ENST00000566286:exon4:c.201+1G>T;ENST00000567880:exon4:c.207+1G>T;ENST00000398339:exon6:c.513+1G>T;ENST00000564403:exon5:c.207+1G>T;ENST00000566514:exon4:c.135+1G>T;ENST00000568169:exon4:c.219+1G>T;ENST00000565908:exon4:c.135+1G>T;ENST00000563824:exon3:c.135+1G>T;ENST00000568147:exon4:c.135+1G>T;ENST00000563888:exon4:c.135+1G>T;ENST00000564343:exon4:c.135+1G>T;ENST00000562543:exon5:c.207+1G>T;ENST00000569357:exon5:c.135+1G>T)	.	.	0.999986675681007	0.938
18	53131306	C	G	18	55464075	y	y	splicing	TCF4(NM_001243226:exon6:c.513+1G>C;NM_001243230:exon4:c.201+1G>C;NM_001083962:exon5:c.207+1G>C;NM_003199:exon5:c.207+1G>C;NM_001243231:exon3:c.81+1G>C;NM_001243228:exon5:c.207+1G>C;NM_001243227:exon4:c.135+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.207+1G>C;ENST00000356073:exon5:c.207+1G>C;ENST00000568673:exon4:c.135+1G>C;ENST00000543082:exon3:c.81+1G>C;ENST00000540999:exon4:c.135+1G>C;ENST00000537578:exon4:c.135+1G>C;ENST00000564999:exon5:c.207+1G>C;ENST00000568740:exon4:c.135+1G>C;ENST00000565018:exon5:c.207+1G>C;ENST00000566279:exon5:c.207+1G>C;ENST00000566286:exon4:c.201+1G>C;ENST00000567880:exon4:c.207+1G>C;ENST00000398339:exon6:c.513+1G>C;ENST00000564403:exon5:c.207+1G>C;ENST00000566514:exon4:c.135+1G>C;ENST00000568169:exon4:c.219+1G>C;ENST00000565908:exon4:c.135+1G>C;ENST00000563824:exon3:c.135+1G>C;ENST00000568147:exon4:c.135+1G>C;ENST00000563888:exon4:c.135+1G>C;ENST00000564343:exon4:c.135+1G>C;ENST00000562543:exon5:c.207+1G>C;ENST00000569357:exon5:c.135+1G>C)	.	.	0.999986675681007	0.938
18	53131306	C	T	18	55464075	y	y	splicing	TCF4(NM_001243226:exon6:c.513+1G>A;NM_001243230:exon4:c.201+1G>A;NM_001083962:exon5:c.207+1G>A;NM_003199:exon5:c.207+1G>A;NM_001243231:exon3:c.81+1G>A;NM_001243228:exon5:c.207+1G>A;NM_001243227:exon4:c.135+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.207+1G>A;ENST00000356073:exon5:c.207+1G>A;ENST00000568673:exon4:c.135+1G>A;ENST00000543082:exon3:c.81+1G>A;ENST00000540999:exon4:c.135+1G>A;ENST00000537578:exon4:c.135+1G>A;ENST00000564999:exon5:c.207+1G>A;ENST00000568740:exon4:c.135+1G>A;ENST00000565018:exon5:c.207+1G>A;ENST00000566279:exon5:c.207+1G>A;ENST00000566286:exon4:c.201+1G>A;ENST00000567880:exon4:c.207+1G>A;ENST00000398339:exon6:c.513+1G>A;ENST00000564403:exon5:c.207+1G>A;ENST00000566514:exon4:c.135+1G>A;ENST00000568169:exon4:c.219+1G>A;ENST00000565908:exon4:c.135+1G>A;ENST00000563824:exon3:c.135+1G>A;ENST00000568147:exon4:c.135+1G>A;ENST00000563888:exon4:c.135+1G>A;ENST00000564343:exon4:c.135+1G>A;ENST00000562543:exon5:c.207+1G>A;ENST00000569357:exon5:c.135+1G>A)	.	.	0.999986675681007	0.938
18	53131307	C	A	18	55464076	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.G81T:p.R27S;TCF4:NM_003199:exon4:c.G207T:p.R69S;TCF4:NM_001243230:exon3:c.G201T:p.R67S;TCF4:NM_001083962:exon4:c.G207T:p.R69S;TCF4:NM_001243227:exon3:c.G135T:p.R45S;TCF4:NM_001243226:exon5:c.G513T:p.R171S;TCF4:NM_001243228:exon4:c.G207T:p.R69S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.G207T:p.R69S;ENSG00000196628:ENST00000568169:exon3:c.G219T:p.R73S;ENSG00000196628:ENST00000564999:exon4:c.G207T:p.R69S;ENSG00000196628:ENST00000568740:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000565018:exon4:c.G207T:p.R69S;ENSG00000196628:ENST00000568147:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000354452:exon4:c.G207T:p.R69S;ENSG00000196628:ENST00000566286:exon3:c.G201T:p.R67S;ENSG00000196628:ENST00000566514:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000356073:exon4:c.G207T:p.R69S;ENSG00000196628:ENST00000564343:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000562543:exon4:c.G207T:p.R69S;ENSG00000196628:ENST00000543082:exon2:c.G81T:p.R27S;ENSG00000196628:ENST00000537578:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000563888:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000564403:exon4:c.G207T:p.R69S;ENSG00000196628:ENST00000563824:exon2:c.G135T:p.R45S;ENSG00000196628:ENST00000565908:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000568673:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000540999:exon3:c.G135T:p.R45S;ENSG00000196628:ENST00000569357:exon4:c.G135T:p.R45S;ENSG00000196628:ENST00000398339:exon5:c.G513T:p.R171S;ENSG00000196628:ENST00000567880:exon3:c.G207T:p.R69S;	0.999176286976662	0.98
18	53131307	C	G	18	55464076	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.G81C:p.R27S;TCF4:NM_003199:exon4:c.G207C:p.R69S;TCF4:NM_001243230:exon3:c.G201C:p.R67S;TCF4:NM_001083962:exon4:c.G207C:p.R69S;TCF4:NM_001243227:exon3:c.G135C:p.R45S;TCF4:NM_001243226:exon5:c.G513C:p.R171S;TCF4:NM_001243228:exon4:c.G207C:p.R69S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.G207C:p.R69S;ENSG00000196628:ENST00000568169:exon3:c.G219C:p.R73S;ENSG00000196628:ENST00000564999:exon4:c.G207C:p.R69S;ENSG00000196628:ENST00000568740:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000565018:exon4:c.G207C:p.R69S;ENSG00000196628:ENST00000568147:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000354452:exon4:c.G207C:p.R69S;ENSG00000196628:ENST00000566286:exon3:c.G201C:p.R67S;ENSG00000196628:ENST00000566514:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000356073:exon4:c.G207C:p.R69S;ENSG00000196628:ENST00000564343:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000562543:exon4:c.G207C:p.R69S;ENSG00000196628:ENST00000543082:exon2:c.G81C:p.R27S;ENSG00000196628:ENST00000537578:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000563888:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000564403:exon4:c.G207C:p.R69S;ENSG00000196628:ENST00000563824:exon2:c.G135C:p.R45S;ENSG00000196628:ENST00000565908:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000568673:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000540999:exon3:c.G135C:p.R45S;ENSG00000196628:ENST00000569357:exon4:c.G135C:p.R45S;ENSG00000196628:ENST00000398339:exon5:c.G513C:p.R171S;ENSG00000196628:ENST00000567880:exon3:c.G207C:p.R69S;	0.999301907702466	0.94
18	53131307	C	T	18	55464076	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon2:c.G81A:p.R27R;TCF4:NM_003199:exon4:c.G207A:p.R69R;TCF4:NM_001243230:exon3:c.G201A:p.R67R;TCF4:NM_001083962:exon4:c.G207A:p.R69R;TCF4:NM_001243227:exon3:c.G135A:p.R45R;TCF4:NM_001243226:exon5:c.G513A:p.R171R;TCF4:NM_001243228:exon4:c.G207A:p.R69R;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.G207A:p.R69R;ENSG00000196628:ENST00000568169:exon3:c.G219A:p.R73R;ENSG00000196628:ENST00000564999:exon4:c.G207A:p.R69R;ENSG00000196628:ENST00000568740:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000565018:exon4:c.G207A:p.R69R;ENSG00000196628:ENST00000568147:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000354452:exon4:c.G207A:p.R69R;ENSG00000196628:ENST00000566286:exon3:c.G201A:p.R67R;ENSG00000196628:ENST00000566514:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000356073:exon4:c.G207A:p.R69R;ENSG00000196628:ENST00000564343:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000562543:exon4:c.G207A:p.R69R;ENSG00000196628:ENST00000543082:exon2:c.G81A:p.R27R;ENSG00000196628:ENST00000537578:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000563888:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000564403:exon4:c.G207A:p.R69R;ENSG00000196628:ENST00000563824:exon2:c.G135A:p.R45R;ENSG00000196628:ENST00000565908:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000568673:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000540999:exon3:c.G135A:p.R45R;ENSG00000196628:ENST00000569357:exon4:c.G135A:p.R45R;ENSG00000196628:ENST00000398339:exon5:c.G513A:p.R171R;ENSG00000196628:ENST00000567880:exon3:c.G207A:p.R69R;	0.993706015047701	0.9
18	53131308	C	A	18	55464077	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.G80T:p.R27M;TCF4:NM_003199:exon4:c.G206T:p.R69M;TCF4:NM_001243230:exon3:c.G200T:p.R67M;TCF4:NM_001083962:exon4:c.G206T:p.R69M;TCF4:NM_001243227:exon3:c.G134T:p.R45M;TCF4:NM_001243226:exon5:c.G512T:p.R171M;TCF4:NM_001243228:exon4:c.G206T:p.R69M;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.G206T:p.R69M;ENSG00000196628:ENST00000568169:exon3:c.G218T:p.R73M;ENSG00000196628:ENST00000564999:exon4:c.G206T:p.R69M;ENSG00000196628:ENST00000568740:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000565018:exon4:c.G206T:p.R69M;ENSG00000196628:ENST00000568147:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000354452:exon4:c.G206T:p.R69M;ENSG00000196628:ENST00000566286:exon3:c.G200T:p.R67M;ENSG00000196628:ENST00000566514:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000356073:exon4:c.G206T:p.R69M;ENSG00000196628:ENST00000564343:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000562543:exon4:c.G206T:p.R69M;ENSG00000196628:ENST00000543082:exon2:c.G80T:p.R27M;ENSG00000196628:ENST00000537578:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000563888:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000564403:exon4:c.G206T:p.R69M;ENSG00000196628:ENST00000563824:exon2:c.G134T:p.R45M;ENSG00000196628:ENST00000565908:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000568673:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000540999:exon3:c.G134T:p.R45M;ENSG00000196628:ENST00000569357:exon4:c.G134T:p.R45M;ENSG00000196628:ENST00000398339:exon5:c.G512T:p.R171M;ENSG00000196628:ENST00000567880:exon3:c.G206T:p.R69M;	0.991269006234953	0.706
18	53131308	C	G	18	55464077	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.G80C:p.R27T;TCF4:NM_003199:exon4:c.G206C:p.R69T;TCF4:NM_001243230:exon3:c.G200C:p.R67T;TCF4:NM_001083962:exon4:c.G206C:p.R69T;TCF4:NM_001243227:exon3:c.G134C:p.R45T;TCF4:NM_001243226:exon5:c.G512C:p.R171T;TCF4:NM_001243228:exon4:c.G206C:p.R69T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.G206C:p.R69T;ENSG00000196628:ENST00000568169:exon3:c.G218C:p.R73T;ENSG00000196628:ENST00000564999:exon4:c.G206C:p.R69T;ENSG00000196628:ENST00000568740:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000565018:exon4:c.G206C:p.R69T;ENSG00000196628:ENST00000568147:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000354452:exon4:c.G206C:p.R69T;ENSG00000196628:ENST00000566286:exon3:c.G200C:p.R67T;ENSG00000196628:ENST00000566514:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000356073:exon4:c.G206C:p.R69T;ENSG00000196628:ENST00000564343:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000562543:exon4:c.G206C:p.R69T;ENSG00000196628:ENST00000543082:exon2:c.G80C:p.R27T;ENSG00000196628:ENST00000537578:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000563888:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000564403:exon4:c.G206C:p.R69T;ENSG00000196628:ENST00000563824:exon2:c.G134C:p.R45T;ENSG00000196628:ENST00000565908:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000568673:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000540999:exon3:c.G134C:p.R45T;ENSG00000196628:ENST00000569357:exon4:c.G134C:p.R45T;ENSG00000196628:ENST00000398339:exon5:c.G512C:p.R171T;ENSG00000196628:ENST00000567880:exon3:c.G206C:p.R69T;	0.98299951368272	0.658
18	53131308	C	T	18	55464077	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.G80A:p.R27K;TCF4:NM_003199:exon4:c.G206A:p.R69K;TCF4:NM_001243230:exon3:c.G200A:p.R67K;TCF4:NM_001083962:exon4:c.G206A:p.R69K;TCF4:NM_001243227:exon3:c.G134A:p.R45K;TCF4:NM_001243226:exon5:c.G512A:p.R171K;TCF4:NM_001243228:exon4:c.G206A:p.R69K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.G206A:p.R69K;ENSG00000196628:ENST00000568169:exon3:c.G218A:p.R73K;ENSG00000196628:ENST00000564999:exon4:c.G206A:p.R69K;ENSG00000196628:ENST00000568740:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000565018:exon4:c.G206A:p.R69K;ENSG00000196628:ENST00000568147:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000354452:exon4:c.G206A:p.R69K;ENSG00000196628:ENST00000566286:exon3:c.G200A:p.R67K;ENSG00000196628:ENST00000566514:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000356073:exon4:c.G206A:p.R69K;ENSG00000196628:ENST00000564343:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000562543:exon4:c.G206A:p.R69K;ENSG00000196628:ENST00000543082:exon2:c.G80A:p.R27K;ENSG00000196628:ENST00000537578:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000563888:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000564403:exon4:c.G206A:p.R69K;ENSG00000196628:ENST00000563824:exon2:c.G134A:p.R45K;ENSG00000196628:ENST00000565908:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000568673:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000540999:exon3:c.G134A:p.R45K;ENSG00000196628:ENST00000569357:exon4:c.G134A:p.R45K;ENSG00000196628:ENST00000398339:exon5:c.G512A:p.R171K;ENSG00000196628:ENST00000567880:exon3:c.G206A:p.R69K;	0.944939520549251	0.534
18	53131309	T	A	18	55464078	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.A79T:p.R27W;TCF4:NM_003199:exon4:c.A205T:p.R69W;TCF4:NM_001243230:exon3:c.A199T:p.R67W;TCF4:NM_001083962:exon4:c.A205T:p.R69W;TCF4:NM_001243227:exon3:c.A133T:p.R45W;TCF4:NM_001243226:exon5:c.A511T:p.R171W;TCF4:NM_001243228:exon4:c.A205T:p.R69W;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.A205T:p.R69W;ENSG00000196628:ENST00000568169:exon3:c.A217T:p.R73W;ENSG00000196628:ENST00000564999:exon4:c.A205T:p.R69W;ENSG00000196628:ENST00000568740:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000565018:exon4:c.A205T:p.R69W;ENSG00000196628:ENST00000568147:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000354452:exon4:c.A205T:p.R69W;ENSG00000196628:ENST00000566286:exon3:c.A199T:p.R67W;ENSG00000196628:ENST00000566514:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000356073:exon4:c.A205T:p.R69W;ENSG00000196628:ENST00000564343:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000562543:exon4:c.A205T:p.R69W;ENSG00000196628:ENST00000543082:exon2:c.A79T:p.R27W;ENSG00000196628:ENST00000537578:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000563888:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000564403:exon4:c.A205T:p.R69W;ENSG00000196628:ENST00000563824:exon2:c.A133T:p.R45W;ENSG00000196628:ENST00000565908:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000568673:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000540999:exon3:c.A133T:p.R45W;ENSG00000196628:ENST00000569357:exon4:c.A133T:p.R45W;ENSG00000196628:ENST00000398339:exon5:c.A511T:p.R171W;ENSG00000196628:ENST00000567880:exon3:c.A205T:p.R69W;	0.885641066400744	0.426
18	53131309	T	C	18	55464078	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.A79G:p.R27G;TCF4:NM_003199:exon4:c.A205G:p.R69G;TCF4:NM_001243230:exon3:c.A199G:p.R67G;TCF4:NM_001083962:exon4:c.A205G:p.R69G;TCF4:NM_001243227:exon3:c.A133G:p.R45G;TCF4:NM_001243226:exon5:c.A511G:p.R171G;TCF4:NM_001243228:exon4:c.A205G:p.R69G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.A205G:p.R69G;ENSG00000196628:ENST00000568169:exon3:c.A217G:p.R73G;ENSG00000196628:ENST00000564999:exon4:c.A205G:p.R69G;ENSG00000196628:ENST00000568740:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000565018:exon4:c.A205G:p.R69G;ENSG00000196628:ENST00000568147:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000354452:exon4:c.A205G:p.R69G;ENSG00000196628:ENST00000566286:exon3:c.A199G:p.R67G;ENSG00000196628:ENST00000566514:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000356073:exon4:c.A205G:p.R69G;ENSG00000196628:ENST00000564343:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000562543:exon4:c.A205G:p.R69G;ENSG00000196628:ENST00000543082:exon2:c.A79G:p.R27G;ENSG00000196628:ENST00000537578:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000563888:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000564403:exon4:c.A205G:p.R69G;ENSG00000196628:ENST00000563824:exon2:c.A133G:p.R45G;ENSG00000196628:ENST00000565908:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000568673:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000540999:exon3:c.A133G:p.R45G;ENSG00000196628:ENST00000569357:exon4:c.A133G:p.R45G;ENSG00000196628:ENST00000398339:exon5:c.A511G:p.R171G;ENSG00000196628:ENST00000567880:exon3:c.A205G:p.R69G;	0.0624578561738616	0.32
18	53131309	T	G	18	55464078	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon2:c.A79C:p.R27R;TCF4:NM_003199:exon4:c.A205C:p.R69R;TCF4:NM_001243230:exon3:c.A199C:p.R67R;TCF4:NM_001083962:exon4:c.A205C:p.R69R;TCF4:NM_001243227:exon3:c.A133C:p.R45R;TCF4:NM_001243226:exon5:c.A511C:p.R171R;TCF4:NM_001243228:exon4:c.A205C:p.R69R;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.A205C:p.R69R;ENSG00000196628:ENST00000568169:exon3:c.A217C:p.R73R;ENSG00000196628:ENST00000564999:exon4:c.A205C:p.R69R;ENSG00000196628:ENST00000568740:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000565018:exon4:c.A205C:p.R69R;ENSG00000196628:ENST00000568147:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000354452:exon4:c.A205C:p.R69R;ENSG00000196628:ENST00000566286:exon3:c.A199C:p.R67R;ENSG00000196628:ENST00000566514:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000356073:exon4:c.A205C:p.R69R;ENSG00000196628:ENST00000564343:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000562543:exon4:c.A205C:p.R69R;ENSG00000196628:ENST00000543082:exon2:c.A79C:p.R27R;ENSG00000196628:ENST00000537578:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000563888:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000564403:exon4:c.A205C:p.R69R;ENSG00000196628:ENST00000563824:exon2:c.A133C:p.R45R;ENSG00000196628:ENST00000565908:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000568673:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000540999:exon3:c.A133C:p.R45R;ENSG00000196628:ENST00000569357:exon4:c.A133C:p.R45R;ENSG00000196628:ENST00000398339:exon5:c.A511C:p.R171R;ENSG00000196628:ENST00000567880:exon3:c.A205C:p.R69R;	0.130503841785319	0.588
18	53131367	A	C	18	55464136	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.T21G:p.D7E;TCF4:NM_003199:exon4:c.T147G:p.N49K;TCF4:NM_001243230:exon3:c.T141G:p.N47K;TCF4:NM_001083962:exon4:c.T147G:p.N49K;TCF4:NM_001243227:exon3:c.T75G:p.N25K;TCF4:NM_001243226:exon5:c.T453G:p.N151K;TCF4:NM_001243228:exon4:c.T147G:p.N49K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.T147G:p.N49K;ENSG00000196628:ENST00000568169:exon3:c.T159G:p.N53K;ENSG00000196628:ENST00000564999:exon4:c.T147G:p.N49K;ENSG00000196628:ENST00000568740:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000565018:exon4:c.T147G:p.N49K;ENSG00000196628:ENST00000568147:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000354452:exon4:c.T147G:p.N49K;ENSG00000196628:ENST00000566286:exon3:c.T141G:p.N47K;ENSG00000196628:ENST00000566514:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000356073:exon4:c.T147G:p.N49K;ENSG00000196628:ENST00000564343:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000562543:exon4:c.T147G:p.N49K;ENSG00000196628:ENST00000543082:exon2:c.T21G:p.D7E;ENSG00000196628:ENST00000537578:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000563888:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000564403:exon4:c.T147G:p.N49K;ENSG00000196628:ENST00000563824:exon2:c.T75G:p.N25K;ENSG00000196628:ENST00000565908:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000568673:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000540999:exon3:c.T75G:p.N25K;ENSG00000196628:ENST00000569357:exon4:c.T75G:p.N25K;ENSG00000196628:ENST00000398339:exon5:c.T453G:p.N151K;ENSG00000196628:ENST00000567880:exon3:c.T147G:p.N49K;	0.0824267596182632	0.368
18	53131367	A	G	18	55464136	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon2:c.T21C:p.D7D;TCF4:NM_003199:exon4:c.T147C:p.N49N;TCF4:NM_001243230:exon3:c.T141C:p.N47N;TCF4:NM_001083962:exon4:c.T147C:p.N49N;TCF4:NM_001243227:exon3:c.T75C:p.N25N;TCF4:NM_001243226:exon5:c.T453C:p.N151N;TCF4:NM_001243228:exon4:c.T147C:p.N49N;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.T147C:p.N49N;ENSG00000196628:ENST00000568169:exon3:c.T159C:p.N53N;ENSG00000196628:ENST00000564999:exon4:c.T147C:p.N49N;ENSG00000196628:ENST00000568740:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000565018:exon4:c.T147C:p.N49N;ENSG00000196628:ENST00000568147:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000354452:exon4:c.T147C:p.N49N;ENSG00000196628:ENST00000566286:exon3:c.T141C:p.N47N;ENSG00000196628:ENST00000566514:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000356073:exon4:c.T147C:p.N49N;ENSG00000196628:ENST00000564343:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000562543:exon4:c.T147C:p.N49N;ENSG00000196628:ENST00000543082:exon2:c.T21C:p.D7D;ENSG00000196628:ENST00000537578:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000563888:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000564403:exon4:c.T147C:p.N49N;ENSG00000196628:ENST00000563824:exon2:c.T75C:p.N25N;ENSG00000196628:ENST00000565908:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000568673:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000540999:exon3:c.T75C:p.N25N;ENSG00000196628:ENST00000569357:exon4:c.T75C:p.N25N;ENSG00000196628:ENST00000398339:exon5:c.T453C:p.N151N;ENSG00000196628:ENST00000567880:exon3:c.T147C:p.N49N;	0.0200045641651951	0.258
18	53131367	A	T	18	55464136	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.T21A:p.D7E;TCF4:NM_003199:exon4:c.T147A:p.N49K;TCF4:NM_001243230:exon3:c.T141A:p.N47K;TCF4:NM_001083962:exon4:c.T147A:p.N49K;TCF4:NM_001243227:exon3:c.T75A:p.N25K;TCF4:NM_001243226:exon5:c.T453A:p.N151K;TCF4:NM_001243228:exon4:c.T147A:p.N49K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.T147A:p.N49K;ENSG00000196628:ENST00000568169:exon3:c.T159A:p.N53K;ENSG00000196628:ENST00000564999:exon4:c.T147A:p.N49K;ENSG00000196628:ENST00000568740:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000565018:exon4:c.T147A:p.N49K;ENSG00000196628:ENST00000568147:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000354452:exon4:c.T147A:p.N49K;ENSG00000196628:ENST00000566286:exon3:c.T141A:p.N47K;ENSG00000196628:ENST00000566514:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000356073:exon4:c.T147A:p.N49K;ENSG00000196628:ENST00000564343:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000562543:exon4:c.T147A:p.N49K;ENSG00000196628:ENST00000543082:exon2:c.T21A:p.D7E;ENSG00000196628:ENST00000537578:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000563888:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000564403:exon4:c.T147A:p.N49K;ENSG00000196628:ENST00000563824:exon2:c.T75A:p.N25K;ENSG00000196628:ENST00000565908:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000568673:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000540999:exon3:c.T75A:p.N25K;ENSG00000196628:ENST00000569357:exon4:c.T75A:p.N25K;ENSG00000196628:ENST00000398339:exon5:c.T453A:p.N151K;ENSG00000196628:ENST00000567880:exon3:c.T147A:p.N49K;	0.0835675089676746	0.398
18	53131368	T	A	18	55464137	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.A20T:p.D7V;TCF4:NM_003199:exon4:c.A146T:p.N49I;TCF4:NM_001243230:exon3:c.A140T:p.N47I;TCF4:NM_001083962:exon4:c.A146T:p.N49I;TCF4:NM_001243227:exon3:c.A74T:p.N25I;TCF4:NM_001243226:exon5:c.A452T:p.N151I;TCF4:NM_001243228:exon4:c.A146T:p.N49I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.A146T:p.N49I;ENSG00000196628:ENST00000568169:exon3:c.A158T:p.N53I;ENSG00000196628:ENST00000564999:exon4:c.A146T:p.N49I;ENSG00000196628:ENST00000568740:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000565018:exon4:c.A146T:p.N49I;ENSG00000196628:ENST00000568147:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000354452:exon4:c.A146T:p.N49I;ENSG00000196628:ENST00000566286:exon3:c.A140T:p.N47I;ENSG00000196628:ENST00000566514:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000356073:exon4:c.A146T:p.N49I;ENSG00000196628:ENST00000564343:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000562543:exon4:c.A146T:p.N49I;ENSG00000196628:ENST00000543082:exon2:c.A20T:p.D7V;ENSG00000196628:ENST00000537578:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000563888:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000564403:exon4:c.A146T:p.N49I;ENSG00000196628:ENST00000563824:exon2:c.A74T:p.N25I;ENSG00000196628:ENST00000565908:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000568673:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000540999:exon3:c.A74T:p.N25I;ENSG00000196628:ENST00000569357:exon4:c.A74T:p.N25I;ENSG00000196628:ENST00000398339:exon5:c.A452T:p.N151I;ENSG00000196628:ENST00000567880:exon3:c.A146T:p.N49I;	0.234858594544841	0.47
18	53131368	T	C	18	55464137	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.A20G:p.D7G;TCF4:NM_003199:exon4:c.A146G:p.N49S;TCF4:NM_001243230:exon3:c.A140G:p.N47S;TCF4:NM_001083962:exon4:c.A146G:p.N49S;TCF4:NM_001243227:exon3:c.A74G:p.N25S;TCF4:NM_001243226:exon5:c.A452G:p.N151S;TCF4:NM_001243228:exon4:c.A146G:p.N49S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.A146G:p.N49S;ENSG00000196628:ENST00000568169:exon3:c.A158G:p.N53S;ENSG00000196628:ENST00000564999:exon4:c.A146G:p.N49S;ENSG00000196628:ENST00000568740:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000565018:exon4:c.A146G:p.N49S;ENSG00000196628:ENST00000568147:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000354452:exon4:c.A146G:p.N49S;ENSG00000196628:ENST00000566286:exon3:c.A140G:p.N47S;ENSG00000196628:ENST00000566514:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000356073:exon4:c.A146G:p.N49S;ENSG00000196628:ENST00000564343:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000562543:exon4:c.A146G:p.N49S;ENSG00000196628:ENST00000543082:exon2:c.A20G:p.D7G;ENSG00000196628:ENST00000537578:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000563888:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000564403:exon4:c.A146G:p.N49S;ENSG00000196628:ENST00000563824:exon2:c.A74G:p.N25S;ENSG00000196628:ENST00000565908:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000568673:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000540999:exon3:c.A74G:p.N25S;ENSG00000196628:ENST00000569357:exon4:c.A74G:p.N25S;ENSG00000196628:ENST00000398339:exon5:c.A452G:p.N151S;ENSG00000196628:ENST00000567880:exon3:c.A146G:p.N49S;	0.417850088741981	0.432
18	53131368	T	G	18	55464137	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon2:c.A20C:p.D7A;TCF4:NM_003199:exon4:c.A146C:p.N49T;TCF4:NM_001243230:exon3:c.A140C:p.N47T;TCF4:NM_001083962:exon4:c.A146C:p.N49T;TCF4:NM_001243227:exon3:c.A74C:p.N25T;TCF4:NM_001243226:exon5:c.A452C:p.N151T;TCF4:NM_001243228:exon4:c.A146C:p.N49T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon4:c.A146C:p.N49T;ENSG00000196628:ENST00000568169:exon3:c.A158C:p.N53T;ENSG00000196628:ENST00000564999:exon4:c.A146C:p.N49T;ENSG00000196628:ENST00000568740:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000565018:exon4:c.A146C:p.N49T;ENSG00000196628:ENST00000568147:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000354452:exon4:c.A146C:p.N49T;ENSG00000196628:ENST00000566286:exon3:c.A140C:p.N47T;ENSG00000196628:ENST00000566514:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000356073:exon4:c.A146C:p.N49T;ENSG00000196628:ENST00000564343:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000562543:exon4:c.A146C:p.N49T;ENSG00000196628:ENST00000543082:exon2:c.A20C:p.D7A;ENSG00000196628:ENST00000537578:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000563888:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000564403:exon4:c.A146C:p.N49T;ENSG00000196628:ENST00000563824:exon2:c.A74C:p.N25T;ENSG00000196628:ENST00000565908:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000568673:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000540999:exon3:c.A74C:p.N25T;ENSG00000196628:ENST00000569357:exon4:c.A74C:p.N25T;ENSG00000196628:ENST00000398339:exon5:c.A452C:p.N151T;ENSG00000196628:ENST00000567880:exon3:c.A146C:p.N49T;	0.156998390431199	0.562
18	53131369	C	A	18	55464138	y	y	splicing	TCF4(NM_001243226:exon6:c.452-1G>T;NM_001243230:exon4:c.140-1G>T;NM_001083962:exon5:c.146-1G>T;NM_003199:exon5:c.146-1G>T;NM_001243231:exon3:c.20-1G>T;NM_001243228:exon5:c.146-1G>T;NM_001243227:exon4:c.74-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.146-1G>T;ENST00000356073:exon5:c.146-1G>T;ENST00000568673:exon4:c.74-1G>T;ENST00000543082:exon3:c.20-1G>T;ENST00000540999:exon4:c.74-1G>T;ENST00000537578:exon4:c.74-1G>T;ENST00000564999:exon5:c.146-1G>T;ENST00000568740:exon4:c.74-1G>T;ENST00000565018:exon5:c.146-1G>T;ENST00000566279:exon5:c.146-1G>T;ENST00000566286:exon4:c.140-1G>T;ENST00000567880:exon4:c.146-1G>T;ENST00000398339:exon6:c.452-1G>T;ENST00000564403:exon5:c.146-1G>T;ENST00000566514:exon4:c.74-1G>T;ENST00000568169:exon4:c.158-1G>T;ENST00000565908:exon4:c.74-1G>T;ENST00000563824:exon3:c.74-1G>T;ENST00000568147:exon4:c.74-1G>T;ENST00000563888:exon4:c.74-1G>T;ENST00000564343:exon4:c.74-1G>T;ENST00000562543:exon5:c.146-1G>T;ENST00000569357:exon5:c.74-1G>T)	.	.	0.999986675681007	0.94
18	53131369	C	G	18	55464138	y	y	splicing	TCF4(NM_001243226:exon6:c.452-1G>C;NM_001243230:exon4:c.140-1G>C;NM_001083962:exon5:c.146-1G>C;NM_003199:exon5:c.146-1G>C;NM_001243231:exon3:c.20-1G>C;NM_001243228:exon5:c.146-1G>C;NM_001243227:exon4:c.74-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.146-1G>C;ENST00000356073:exon5:c.146-1G>C;ENST00000568673:exon4:c.74-1G>C;ENST00000543082:exon3:c.20-1G>C;ENST00000540999:exon4:c.74-1G>C;ENST00000537578:exon4:c.74-1G>C;ENST00000564999:exon5:c.146-1G>C;ENST00000568740:exon4:c.74-1G>C;ENST00000565018:exon5:c.146-1G>C;ENST00000566279:exon5:c.146-1G>C;ENST00000566286:exon4:c.140-1G>C;ENST00000567880:exon4:c.146-1G>C;ENST00000398339:exon6:c.452-1G>C;ENST00000564403:exon5:c.146-1G>C;ENST00000566514:exon4:c.74-1G>C;ENST00000568169:exon4:c.158-1G>C;ENST00000565908:exon4:c.74-1G>C;ENST00000563824:exon3:c.74-1G>C;ENST00000568147:exon4:c.74-1G>C;ENST00000563888:exon4:c.74-1G>C;ENST00000564343:exon4:c.74-1G>C;ENST00000562543:exon5:c.146-1G>C;ENST00000569357:exon5:c.74-1G>C)	.	.	0.999986675681007	0.94
18	53131369	C	T	18	55464138	y	y	splicing	TCF4(NM_001243226:exon6:c.452-1G>A;NM_001243230:exon4:c.140-1G>A;NM_001083962:exon5:c.146-1G>A;NM_003199:exon5:c.146-1G>A;NM_001243231:exon3:c.20-1G>A;NM_001243228:exon5:c.146-1G>A;NM_001243227:exon4:c.74-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.146-1G>A;ENST00000356073:exon5:c.146-1G>A;ENST00000568673:exon4:c.74-1G>A;ENST00000543082:exon3:c.20-1G>A;ENST00000540999:exon4:c.74-1G>A;ENST00000537578:exon4:c.74-1G>A;ENST00000564999:exon5:c.146-1G>A;ENST00000568740:exon4:c.74-1G>A;ENST00000565018:exon5:c.146-1G>A;ENST00000566279:exon5:c.146-1G>A;ENST00000566286:exon4:c.140-1G>A;ENST00000567880:exon4:c.146-1G>A;ENST00000398339:exon6:c.452-1G>A;ENST00000564403:exon5:c.146-1G>A;ENST00000566514:exon4:c.74-1G>A;ENST00000568169:exon4:c.158-1G>A;ENST00000565908:exon4:c.74-1G>A;ENST00000563824:exon3:c.74-1G>A;ENST00000568147:exon4:c.74-1G>A;ENST00000563888:exon4:c.74-1G>A;ENST00000564343:exon4:c.74-1G>A;ENST00000562543:exon5:c.146-1G>A;ENST00000569357:exon5:c.74-1G>A)	.	.	0.999986675681007	0.94
18	53131370	T	A	18	55464139	y	y	splicing	TCF4(NM_001243226:exon6:c.452-2A>T;NM_001243230:exon4:c.140-2A>T;NM_001083962:exon5:c.146-2A>T;NM_003199:exon5:c.146-2A>T;NM_001243231:exon3:c.20-2A>T;NM_001243228:exon5:c.146-2A>T;NM_001243227:exon4:c.74-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.146-2A>T;ENST00000356073:exon5:c.146-2A>T;ENST00000568673:exon4:c.74-2A>T;ENST00000543082:exon3:c.20-2A>T;ENST00000540999:exon4:c.74-2A>T;ENST00000537578:exon4:c.74-2A>T;ENST00000564999:exon5:c.146-2A>T;ENST00000568740:exon4:c.74-2A>T;ENST00000565018:exon5:c.146-2A>T;ENST00000566279:exon5:c.146-2A>T;ENST00000566286:exon4:c.140-2A>T;ENST00000567880:exon4:c.146-2A>T;ENST00000398339:exon6:c.452-2A>T;ENST00000564403:exon5:c.146-2A>T;ENST00000566514:exon4:c.74-2A>T;ENST00000568169:exon4:c.158-2A>T;ENST00000565908:exon4:c.74-2A>T;ENST00000563824:exon3:c.74-2A>T;ENST00000568147:exon4:c.74-2A>T;ENST00000563888:exon4:c.74-2A>T;ENST00000564343:exon4:c.74-2A>T;ENST00000562543:exon5:c.146-2A>T;ENST00000569357:exon5:c.74-2A>T)	.	.	0.999989917668626	0.924
18	53131370	T	C	18	55464139	y	y	splicing	TCF4(NM_001243226:exon6:c.452-2A>G;NM_001243230:exon4:c.140-2A>G;NM_001083962:exon5:c.146-2A>G;NM_003199:exon5:c.146-2A>G;NM_001243231:exon3:c.20-2A>G;NM_001243228:exon5:c.146-2A>G;NM_001243227:exon4:c.74-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.146-2A>G;ENST00000356073:exon5:c.146-2A>G;ENST00000568673:exon4:c.74-2A>G;ENST00000543082:exon3:c.20-2A>G;ENST00000540999:exon4:c.74-2A>G;ENST00000537578:exon4:c.74-2A>G;ENST00000564999:exon5:c.146-2A>G;ENST00000568740:exon4:c.74-2A>G;ENST00000565018:exon5:c.146-2A>G;ENST00000566279:exon5:c.146-2A>G;ENST00000566286:exon4:c.140-2A>G;ENST00000567880:exon4:c.146-2A>G;ENST00000398339:exon6:c.452-2A>G;ENST00000564403:exon5:c.146-2A>G;ENST00000566514:exon4:c.74-2A>G;ENST00000568169:exon4:c.158-2A>G;ENST00000565908:exon4:c.74-2A>G;ENST00000563824:exon3:c.74-2A>G;ENST00000568147:exon4:c.74-2A>G;ENST00000563888:exon4:c.74-2A>G;ENST00000564343:exon4:c.74-2A>G;ENST00000562543:exon5:c.146-2A>G;ENST00000569357:exon5:c.74-2A>G)	.	.	0.999989917668626	0.924
18	53131370	T	G	18	55464139	y	y	splicing	TCF4(NM_001243226:exon6:c.452-2A>C;NM_001243230:exon4:c.140-2A>C;NM_001083962:exon5:c.146-2A>C;NM_003199:exon5:c.146-2A>C;NM_001243231:exon3:c.20-2A>C;NM_001243228:exon5:c.146-2A>C;NM_001243227:exon4:c.74-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon5:c.146-2A>C;ENST00000356073:exon5:c.146-2A>C;ENST00000568673:exon4:c.74-2A>C;ENST00000543082:exon3:c.20-2A>C;ENST00000540999:exon4:c.74-2A>C;ENST00000537578:exon4:c.74-2A>C;ENST00000564999:exon5:c.146-2A>C;ENST00000568740:exon4:c.74-2A>C;ENST00000565018:exon5:c.146-2A>C;ENST00000566279:exon5:c.146-2A>C;ENST00000566286:exon4:c.140-2A>C;ENST00000567880:exon4:c.146-2A>C;ENST00000398339:exon6:c.452-2A>C;ENST00000564403:exon5:c.146-2A>C;ENST00000566514:exon4:c.74-2A>C;ENST00000568169:exon4:c.158-2A>C;ENST00000565908:exon4:c.74-2A>C;ENST00000563824:exon3:c.74-2A>C;ENST00000568147:exon4:c.74-2A>C;ENST00000563888:exon4:c.74-2A>C;ENST00000564343:exon4:c.74-2A>C;ENST00000562543:exon5:c.146-2A>C;ENST00000569357:exon5:c.74-2A>C)	.	.	0.999989917668626	0.924
18	53131371	A	C	18	55464140	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.996943987976267	0.88
18	53131371	A	G	18	55464140	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.46819696753069E-4	0.004
18	53131371	A	T	18	55464140	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.431943138711802	0.482
18	53131372	G	A	18	55464141	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0613399595001123	0.244
18	53131372	G	C	18	55464141	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.023652487632278	0.168
18	53131372	G	T	18	55464141	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0284379572890997	0.178
18	53131373	G	A	18	55464142	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.00890770318166418	0.044
18	53131373	G	C	18	55464142	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.254281641402503	0.39
18	53131373	G	T	18	55464142	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.360450617559841	0.388
18	53131374	G	A	18	55464143	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.182175948326226	0.288
18	53131374	G	C	18	55464143	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.558910763199371	0.558
18	53131374	G	T	18	55464143	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.613791618151166	0.566
18	53131375	A	C	18	55464144	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.111812746122692	0.388
18	53131375	A	G	18	55464144	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.00877069843451286	0.336
18	53131375	A	T	18	55464144	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.387956805005381	0.412
18	53131376	C	A	18	55464145	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	4.24634207681766E-4	0.01
18	53131376	C	G	18	55464145	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0012354530891754	0.01
18	53131376	C	T	18	55464145	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.87035589834702E-4	0.048
18	53131377	A	C	18	55464146	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.685092593167205	0.498
18	53131377	A	G	18	55464146	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.101595646283979	0.312
18	53131377	A	T	18	55464146	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.999986824629818	0.958
18	53131378	A	C	18	55464147	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.84306961470861	0.594
18	53131378	A	G	18	55464147	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0782438605932924	0.342
18	53131378	A	T	18	55464147	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.902075023125889	0.668
18	53131379	G	A	18	55464148	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.918140181502792	0.698
18	53131379	G	C	18	55464148	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.942519853678166	0.634
18	53131379	G	T	18	55464148	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.907340001027054	0.624
18	53131380	A	C	18	55464149	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.711357717377061	0.676
18	53131380	A	G	18	55464149	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.0970386853162079	0.33
18	53131380	A	T	18	55464149	y	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.878183602690335	0.7
18	53149373	C	A	18	55482142	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.03359245426808E-5	0.01
18	53149373	C	G	18	55482142	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.03359245426808E-5	0.01
18	53149373	C	T	18	55482142	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.03359245426808E-5	0.01
18	53149374	C	A	18	55482143	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.00286289604843E-5	0.0
18	53149374	C	G	18	55482143	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.00286289604843E-5	0.0
18	53149374	C	T	18	55482143	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.00286289604843E-5	0.0
18	53149375	C	A	18	55482144	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.65388135286213E-5	0.002
18	53149375	C	G	18	55482144	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.65388135286213E-5	0.002
18	53149375	C	T	18	55482144	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.65388135286213E-5	0.002
18	53149376	C	A	18	55482145	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.59802355779309E-5	0.0
18	53149376	C	G	18	55482145	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.59802355779309E-5	0.0
18	53149376	C	T	18	55482145	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.80332477406426E-5	0.0
18	53149377	T	A	18	55482146	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.22311398176536E-5	0.002
18	53149377	T	C	18	55482146	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	4.31003130927308E-5	0.024
18	53149377	T	G	18	55482146	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	4.31003130927308E-5	0.03
18	53149378	C	A	18	55482147	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	8.13951347297017E-5	0.004
18	53149378	C	G	18	55482147	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	8.13951347297017E-5	0.002
18	53149378	C	T	18	55482147	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	8.13951347297017E-5	0.026
18	53149379	A	C	18	55482148	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	8.44367576947603E-5	0.002
18	53149379	A	G	18	55482148	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	8.44367576947603E-5	0.002
18	53149379	A	T	18	55482148	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.84930519518635E-5	0.002
18	53149380	C	A	18	55482149	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.21557472225283E-5	0.0
18	53149380	C	G	18	55482149	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.21557472225283E-5	0.0
18	53149380	C	T	18	55482149	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.21557472225283E-5	0.0
18	53149381	C	A	18	55482150	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	3.62279994356454E-5	0.006
18	53149381	C	G	18	55482150	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	3.62279994356454E-5	0.014
18	53149381	C	T	18	55482150	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	3.62279994356454E-5	0.006
18	53149382	T	A	18	55482151	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	2.256915070725E-5	0.0
18	53149382	T	C	18	55482151	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	2.256915070725E-5	0.0
18	53149382	T	G	18	55482151	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	2.256915070725E-5	0.0
18	53149383	C	A	18	55482152	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	2.32510510707312E-5	0.0
18	53149383	C	G	18	55482152	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	2.32510510707312E-5	0.0
18	53149383	C	T	18	55482152	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	1.00675832680685E-4	0.002
18	53149486	G	A	18	55482255	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	6.93427876845877E-5	0.008
18	53149486	G	C	18	55482255	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	3.33614307896177E-5	0.0
18	53149486	G	T	18	55482255	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	3.33614307896177E-5	0.004
18	53149487	T	A	18	55482256	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	5.52086759380612E-5	0.04
18	53149487	T	C	18	55482256	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	7.38258961194127E-5	0.05
18	53149487	T	G	18	55482256	n	y	intronic	TCF4	.	.	ncRNA_UTR5	ENSG00000196628	.	.	7.38258961194127E-5	0.064
18	53149488	C	A	18	55482257	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	7.17029124203775E-5	0.0
18	53149488	C	G	18	55482257	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	7.17029124203775E-5	0.0
18	53149488	C	T	18	55482257	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	7.17029124203775E-5	0.0
18	53149489	T	A	18	55482258	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	6.88864756717333E-4	0.002
18	53149489	T	C	18	55482258	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.821824429032E-4	0.0
18	53149489	T	G	18	55482258	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	3.821824429032E-4	0.0
18	53149490	A	C	18	55482259	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	5.37614586570826E-5	0.008
18	53149490	A	G	18	55482259	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	3.77382407657072E-5	0.006
18	53149490	A	T	18	55482259	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	7.84397551808994E-5	0.006
18	53149491	T	A	18	55482260	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.89925739660516E-5	0.008
18	53149491	T	C	18	55482260	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.89925739660516E-5	0.006
18	53149491	T	G	18	55482260	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.89925739660516E-5	0.006
18	53149492	A	C	18	55482261	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.95853904142978E-5	0.004
18	53149492	A	G	18	55482261	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.95853904142978E-5	0.004
18	53149492	A	T	18	55482261	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	2.95853904142978E-5	0.002
18	53149493	A	C	18	55482262	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	9.28207984957438E-5	0.0
18	53149493	A	G	18	55482262	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	9.28207984957438E-5	0.0
18	53149493	A	T	18	55482262	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	9.28207984957438E-5	0.004
18	53149494	A	C	18	55482263	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	9.28207984957438E-5	0.0
18	53149494	A	G	18	55482263	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	9.28207984957438E-5	0.0
18	53149494	A	T	18	55482263	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	4.2315363797163E-5	0.0
18	53149495	A	C	18	55482264	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.67535614375061E-5	0.0
18	53149495	A	G	18	55482264	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.67535614375061E-5	0.0
18	53149495	A	T	18	55482264	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.91564032431422E-5	0.0
18	53149496	G	A	18	55482265	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.40053381145528E-4	0.014
18	53149496	G	C	18	55482265	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	8.55472960422104E-5	0.0
18	53149496	G	T	18	55482265	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	8.55472960422104E-5	0.0
18	53149497	A	C	18	55482266	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	5.69439264402225E-5	0.0
18	53149497	A	G	18	55482266	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	5.69439264402225E-5	0.0
18	53149497	A	T	18	55482266	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	8.18429645671592E-5	0.0
18	53149498	G	A	18	55482267	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	1.07902708129146E-4	0.004
18	53149498	G	C	18	55482267	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	6.5908222467397E-5	0.002
18	53149498	G	T	18	55482267	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	8.88018820604874E-5	0.01
18	53149499	C	A	18	55482268	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.00288554162833209	0.014
18	53149499	C	G	18	55482268	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.00221383729716223	0.012
18	53149499	C	T	18	55482268	n	y	intronic	TCF4	.	.	ncRNA_intronic	ENSG00000267028	.	.	0.00388147229820857	0.01
18	53177802	A	C	18	55510571	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00188193736574348	0.084
18	53177802	A	G	18	55510571	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00188193736574348	0.086
18	53177802	A	T	18	55510571	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00506315271676327	0.052
18	53177803	T	A	18	55510572	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00115128744468825	0.0
18	53177803	T	C	18	55510572	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00115128744468825	0.0
18	53177803	T	G	18	55510572	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00115128744468825	0.0
18	53177804	A	C	18	55510573	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00346659036287179	0.09
18	53177804	A	G	18	55510573	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00188193736574348	0.088
18	53177804	A	T	18	55510573	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00506315271676327	0.052
18	53177805	T	A	18	55510574	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.93217030321477E-4	0.004
18	53177805	T	C	18	55510574	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.83391555540555E-4	0.004
18	53177805	T	G	18	55510574	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.83391555540555E-4	0.004
18	53177806	T	A	18	55510575	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0582969881088608	0.222
18	53177806	T	C	18	55510575	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.030555182693401	0.144
18	53177806	T	G	18	55510575	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.030555182693401	0.146
18	53177807	T	A	18	55510576	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0255684450916266	0.09
18	53177807	T	C	18	55510576	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0189089740067197	0.034
18	53177807	T	G	18	55510576	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0189089740067197	0.034
18	53177808	A	C	18	55510577	y	y	splicing	TCF4(NM_001243231:exon2:c.19+2T>G)	.	.	splicing	ENSG00000196628(ENST00000543082:exon2:c.19+2T>G)	.	.	0.00115128744468825	0.0
18	53177808	A	G	18	55510577	y	y	splicing	TCF4(NM_001243231:exon2:c.19+2T>C)	.	.	splicing	ENSG00000196628(ENST00000543082:exon2:c.19+2T>C)	.	.	0.00115128744468825	0.0
18	53177808	A	T	18	55510577	y	y	splicing	TCF4(NM_001243231:exon2:c.19+2T>A)	.	.	splicing	ENSG00000196628(ENST00000543082:exon2:c.19+2T>A)	.	.	0.00115128744468825	0.0
18	53177809	C	A	18	55510578	y	y	splicing	TCF4(NM_001243231:exon2:c.19+1G>T)	.	.	splicing	ENSG00000196628(ENST00000543082:exon2:c.19+1G>T)	.	.	0.565534940030959	0.348
18	53177809	C	G	18	55510578	y	y	splicing	TCF4(NM_001243231:exon2:c.19+1G>C)	.	.	splicing	ENSG00000196628(ENST00000543082:exon2:c.19+1G>C)	.	.	0.0860892350150024	0.236
18	53177809	C	T	18	55510578	y	y	splicing	TCF4(NM_001243231:exon2:c.19+1G>A)	.	.	splicing	ENSG00000196628(ENST00000543082:exon2:c.19+1G>A)	.	.	0.761229237580339	0.464
18	53177810	C	A	18	55510579	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon1:c.G19T:p.D7Y;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.G19T:p.D7Y;	0.0203041913402469	0.09
18	53177810	C	G	18	55510579	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon1:c.G19C:p.D7H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.G19C:p.D7H;	0.0203041913402469	0.086
18	53177810	C	T	18	55510579	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon1:c.G19A:p.D7N;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.G19A:p.D7N;	0.00492332483102383	0.118
18	53177811	T	A	18	55510580	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon1:c.A18T:p.R6S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.A18T:p.R6S;	2.81602517199445E-5	0.026
18	53177811	T	C	18	55510580	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243231:exon1:c.A18G:p.R6R;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.A18G:p.R6R;	1.61821323901995E-4	0.03
18	53177811	T	G	18	55510580	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon1:c.A18C:p.R6S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.A18C:p.R6S;	1.82309039396057E-5	0.024
18	53177812	C	A	18	55510581	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon1:c.G17T:p.R6I;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.G17T:p.R6I;	0.0343998936554931	0.062
18	53177812	C	G	18	55510581	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon1:c.G17C:p.R6T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.G17C:p.R6T;	0.00368628214496922	0.056
18	53177812	C	T	18	55510581	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243231:exon1:c.G17A:p.R6K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000543082:exon1:c.G17A:p.R6K;	0.0123696162114533	0.048
18	53252503	T	A	18	55585272	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.25993521755197E-5	0.0
18	53252503	T	C	18	55585272	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.66788996267205E-5	0.0
18	53252503	T	G	18	55585272	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	8.11194981212355E-6	0.0
18	53252504	T	A	18	55585273	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00351234237601186	0.152
18	53252504	T	C	18	55585273	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00101542195264337	0.074
18	53252504	T	G	18	55585273	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.08297638177636E-4	0.006
18	53252505	A	C	18	55585274	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.948781450990235	0.786
18	53252505	A	G	18	55585274	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.941842440939868	0.796
18	53252505	A	T	18	55585274	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.989883527246559	0.738
18	53252506	C	A	18	55585275	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999976844404329	0.992
18	53252506	C	G	18	55585275	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999976844404329	0.998
18	53252506	C	T	18	55585275	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999976829868483	0.992
18	53252507	A	C	18	55585276	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.20870905282547E-4	0.154
18	53252507	A	G	18	55585276	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0151796255779585	0.114
18	53252507	A	T	18	55585276	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00107891735025062	0.08
18	53252508	T	A	18	55585277	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999954986811986	0.952
18	53252508	T	C	18	55585277	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998752104911114	0.972
18	53252508	T	G	18	55585277	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999923938914362	0.96
18	53252509	A	C	18	55585278	y	y	splicing	TCF4(NM_001243226:exon5:c.451+2T>G;NM_001243230:exon3:c.139+2T>G;NM_001083962:exon4:c.145+2T>G;NM_003199:exon4:c.145+2T>G;NM_001243228:exon4:c.145+2T>G;NM_001243227:exon3:c.73+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.145+2T>G;ENST00000356073:exon4:c.145+2T>G;ENST00000568673:exon3:c.73+2T>G;ENST00000540999:exon3:c.73+2T>G;ENST00000537578:exon3:c.73+2T>G;ENST00000564999:exon4:c.145+2T>G;ENST00000568740:exon3:c.73+2T>G;ENST00000565018:exon4:c.145+2T>G;ENST00000566279:exon4:c.145+2T>G;ENST00000566286:exon3:c.139+2T>G;ENST00000567880:exon3:c.145+2T>G;ENST00000398339:exon5:c.451+2T>G;ENST00000564403:exon4:c.145+2T>G;ENST00000566514:exon3:c.73+2T>G;ENST00000568169:exon3:c.157+2T>G;ENST00000565908:exon3:c.73+2T>G;ENST00000563824:exon2:c.73+2T>G;ENST00000568147:exon3:c.73+2T>G;ENST00000563888:exon3:c.73+2T>G;ENST00000564343:exon3:c.73+2T>G;ENST00000562543:exon4:c.145+2T>G;ENST00000569357:exon4:c.73+2T>G)	.	.	0.999939020951004	0.928
18	53252509	A	G	18	55585278	y	y	splicing	TCF4(NM_001243226:exon5:c.451+2T>C;NM_001243230:exon3:c.139+2T>C;NM_001083962:exon4:c.145+2T>C;NM_003199:exon4:c.145+2T>C;NM_001243228:exon4:c.145+2T>C;NM_001243227:exon3:c.73+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.145+2T>C;ENST00000356073:exon4:c.145+2T>C;ENST00000568673:exon3:c.73+2T>C;ENST00000540999:exon3:c.73+2T>C;ENST00000537578:exon3:c.73+2T>C;ENST00000564999:exon4:c.145+2T>C;ENST00000568740:exon3:c.73+2T>C;ENST00000565018:exon4:c.145+2T>C;ENST00000566279:exon4:c.145+2T>C;ENST00000566286:exon3:c.139+2T>C;ENST00000567880:exon3:c.145+2T>C;ENST00000398339:exon5:c.451+2T>C;ENST00000564403:exon4:c.145+2T>C;ENST00000566514:exon3:c.73+2T>C;ENST00000568169:exon3:c.157+2T>C;ENST00000565908:exon3:c.73+2T>C;ENST00000563824:exon2:c.73+2T>C;ENST00000568147:exon3:c.73+2T>C;ENST00000563888:exon3:c.73+2T>C;ENST00000564343:exon3:c.73+2T>C;ENST00000562543:exon4:c.145+2T>C;ENST00000569357:exon4:c.73+2T>C)	.	.	0.980961292377224	0.598
18	53252509	A	T	18	55585278	y	y	splicing	TCF4(NM_001243226:exon5:c.451+2T>A;NM_001243230:exon3:c.139+2T>A;NM_001083962:exon4:c.145+2T>A;NM_003199:exon4:c.145+2T>A;NM_001243228:exon4:c.145+2T>A;NM_001243227:exon3:c.73+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.145+2T>A;ENST00000356073:exon4:c.145+2T>A;ENST00000568673:exon3:c.73+2T>A;ENST00000540999:exon3:c.73+2T>A;ENST00000537578:exon3:c.73+2T>A;ENST00000564999:exon4:c.145+2T>A;ENST00000568740:exon3:c.73+2T>A;ENST00000565018:exon4:c.145+2T>A;ENST00000566279:exon4:c.145+2T>A;ENST00000566286:exon3:c.139+2T>A;ENST00000567880:exon3:c.145+2T>A;ENST00000398339:exon5:c.451+2T>A;ENST00000564403:exon4:c.145+2T>A;ENST00000566514:exon3:c.73+2T>A;ENST00000568169:exon3:c.157+2T>A;ENST00000565908:exon3:c.73+2T>A;ENST00000563824:exon2:c.73+2T>A;ENST00000568147:exon3:c.73+2T>A;ENST00000563888:exon3:c.73+2T>A;ENST00000564343:exon3:c.73+2T>A;ENST00000562543:exon4:c.145+2T>A;ENST00000569357:exon4:c.73+2T>A)	.	.	0.999939020951004	0.922
18	53252510	C	A	18	55585279	y	y	splicing	TCF4(NM_001243226:exon5:c.451+1G>T;NM_001243230:exon3:c.139+1G>T;NM_001083962:exon4:c.145+1G>T;NM_003199:exon4:c.145+1G>T;NM_001243228:exon4:c.145+1G>T;NM_001243227:exon3:c.73+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.145+1G>T;ENST00000356073:exon4:c.145+1G>T;ENST00000568673:exon3:c.73+1G>T;ENST00000540999:exon3:c.73+1G>T;ENST00000537578:exon3:c.73+1G>T;ENST00000564999:exon4:c.145+1G>T;ENST00000568740:exon3:c.73+1G>T;ENST00000565018:exon4:c.145+1G>T;ENST00000566279:exon4:c.145+1G>T;ENST00000566286:exon3:c.139+1G>T;ENST00000567880:exon3:c.145+1G>T;ENST00000398339:exon5:c.451+1G>T;ENST00000564403:exon4:c.145+1G>T;ENST00000566514:exon3:c.73+1G>T;ENST00000568169:exon3:c.157+1G>T;ENST00000565908:exon3:c.73+1G>T;ENST00000563824:exon2:c.73+1G>T;ENST00000568147:exon3:c.73+1G>T;ENST00000563888:exon3:c.73+1G>T;ENST00000564343:exon3:c.73+1G>T;ENST00000562543:exon4:c.145+1G>T;ENST00000569357:exon4:c.73+1G>T)	.	.	0.999986675681007	0.932
18	53252510	C	G	18	55585279	y	y	splicing	TCF4(NM_001243226:exon5:c.451+1G>C;NM_001243230:exon3:c.139+1G>C;NM_001083962:exon4:c.145+1G>C;NM_003199:exon4:c.145+1G>C;NM_001243228:exon4:c.145+1G>C;NM_001243227:exon3:c.73+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.145+1G>C;ENST00000356073:exon4:c.145+1G>C;ENST00000568673:exon3:c.73+1G>C;ENST00000540999:exon3:c.73+1G>C;ENST00000537578:exon3:c.73+1G>C;ENST00000564999:exon4:c.145+1G>C;ENST00000568740:exon3:c.73+1G>C;ENST00000565018:exon4:c.145+1G>C;ENST00000566279:exon4:c.145+1G>C;ENST00000566286:exon3:c.139+1G>C;ENST00000567880:exon3:c.145+1G>C;ENST00000398339:exon5:c.451+1G>C;ENST00000564403:exon4:c.145+1G>C;ENST00000566514:exon3:c.73+1G>C;ENST00000568169:exon3:c.157+1G>C;ENST00000565908:exon3:c.73+1G>C;ENST00000563824:exon2:c.73+1G>C;ENST00000568147:exon3:c.73+1G>C;ENST00000563888:exon3:c.73+1G>C;ENST00000564343:exon3:c.73+1G>C;ENST00000562543:exon4:c.145+1G>C;ENST00000569357:exon4:c.73+1G>C)	.	.	0.999986675681007	0.924
18	53252510	C	T	18	55585279	y	y	splicing	TCF4(NM_001243226:exon5:c.451+1G>A;NM_001243230:exon3:c.139+1G>A;NM_001083962:exon4:c.145+1G>A;NM_003199:exon4:c.145+1G>A;NM_001243228:exon4:c.145+1G>A;NM_001243227:exon3:c.73+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.145+1G>A;ENST00000356073:exon4:c.145+1G>A;ENST00000568673:exon3:c.73+1G>A;ENST00000540999:exon3:c.73+1G>A;ENST00000537578:exon3:c.73+1G>A;ENST00000564999:exon4:c.145+1G>A;ENST00000568740:exon3:c.73+1G>A;ENST00000565018:exon4:c.145+1G>A;ENST00000566279:exon4:c.145+1G>A;ENST00000566286:exon3:c.139+1G>A;ENST00000567880:exon3:c.145+1G>A;ENST00000398339:exon5:c.451+1G>A;ENST00000564403:exon4:c.145+1G>A;ENST00000566514:exon3:c.73+1G>A;ENST00000568169:exon3:c.157+1G>A;ENST00000565908:exon3:c.73+1G>A;ENST00000563824:exon2:c.73+1G>A;ENST00000568147:exon3:c.73+1G>A;ENST00000563888:exon3:c.73+1G>A;ENST00000564343:exon3:c.73+1G>A;ENST00000562543:exon4:c.145+1G>A;ENST00000569357:exon4:c.73+1G>A)	.	.	0.999986675681007	0.932
18	53252511	T	A	18	55585280	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.A145T:p.N49Y;TCF4:NM_001243230:exon2:c.A139T:p.N47Y;TCF4:NM_001083962:exon3:c.A145T:p.N49Y;TCF4:NM_001243227:exon2:c.A73T:p.N25Y;TCF4:NM_001243226:exon4:c.A451T:p.N151Y;TCF4:NM_001243228:exon3:c.A145T:p.N49Y;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A145T:p.N49Y;ENSG00000196628:ENST00000568169:exon2:c.A157T:p.N53Y;ENSG00000196628:ENST00000564999:exon3:c.A145T:p.N49Y;ENSG00000196628:ENST00000568740:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000565018:exon3:c.A145T:p.N49Y;ENSG00000196628:ENST00000568147:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000354452:exon3:c.A145T:p.N49Y;ENSG00000196628:ENST00000566286:exon2:c.A139T:p.N47Y;ENSG00000196628:ENST00000566514:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000356073:exon3:c.A145T:p.N49Y;ENSG00000196628:ENST00000564343:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000562543:exon3:c.A145T:p.N49Y;ENSG00000196628:ENST00000537578:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000563888:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000564403:exon3:c.A145T:p.N49Y;ENSG00000196628:ENST00000563824:exon1:c.A73T:p.N25Y;ENSG00000196628:ENST00000565908:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000568673:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000540999:exon2:c.A73T:p.N25Y;ENSG00000196628:ENST00000569357:exon3:c.A73T:p.N25Y;ENSG00000196628:ENST00000398339:exon4:c.A451T:p.N151Y;ENSG00000196628:ENST00000567880:exon2:c.A145T:p.N49Y;	0.873449971365714	0.458
18	53252511	T	C	18	55585280	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.A145G:p.N49D;TCF4:NM_001243230:exon2:c.A139G:p.N47D;TCF4:NM_001083962:exon3:c.A145G:p.N49D;TCF4:NM_001243227:exon2:c.A73G:p.N25D;TCF4:NM_001243226:exon4:c.A451G:p.N151D;TCF4:NM_001243228:exon3:c.A145G:p.N49D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A145G:p.N49D;ENSG00000196628:ENST00000568169:exon2:c.A157G:p.N53D;ENSG00000196628:ENST00000564999:exon3:c.A145G:p.N49D;ENSG00000196628:ENST00000568740:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000565018:exon3:c.A145G:p.N49D;ENSG00000196628:ENST00000568147:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000354452:exon3:c.A145G:p.N49D;ENSG00000196628:ENST00000566286:exon2:c.A139G:p.N47D;ENSG00000196628:ENST00000566514:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000356073:exon3:c.A145G:p.N49D;ENSG00000196628:ENST00000564343:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000562543:exon3:c.A145G:p.N49D;ENSG00000196628:ENST00000537578:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000563888:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000564403:exon3:c.A145G:p.N49D;ENSG00000196628:ENST00000563824:exon1:c.A73G:p.N25D;ENSG00000196628:ENST00000565908:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000568673:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000540999:exon2:c.A73G:p.N25D;ENSG00000196628:ENST00000569357:exon3:c.A73G:p.N25D;ENSG00000196628:ENST00000398339:exon4:c.A451G:p.N151D;ENSG00000196628:ENST00000567880:exon2:c.A145G:p.N49D;	0.0595110411483927	0.174
18	53252511	T	G	18	55585280	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.A145C:p.N49H;TCF4:NM_001243230:exon2:c.A139C:p.N47H;TCF4:NM_001083962:exon3:c.A145C:p.N49H;TCF4:NM_001243227:exon2:c.A73C:p.N25H;TCF4:NM_001243226:exon4:c.A451C:p.N151H;TCF4:NM_001243228:exon3:c.A145C:p.N49H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A145C:p.N49H;ENSG00000196628:ENST00000568169:exon2:c.A157C:p.N53H;ENSG00000196628:ENST00000564999:exon3:c.A145C:p.N49H;ENSG00000196628:ENST00000568740:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000565018:exon3:c.A145C:p.N49H;ENSG00000196628:ENST00000568147:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000354452:exon3:c.A145C:p.N49H;ENSG00000196628:ENST00000566286:exon2:c.A139C:p.N47H;ENSG00000196628:ENST00000566514:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000356073:exon3:c.A145C:p.N49H;ENSG00000196628:ENST00000564343:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000562543:exon3:c.A145C:p.N49H;ENSG00000196628:ENST00000537578:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000563888:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000564403:exon3:c.A145C:p.N49H;ENSG00000196628:ENST00000563824:exon1:c.A73C:p.N25H;ENSG00000196628:ENST00000565908:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000568673:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000540999:exon2:c.A73C:p.N25H;ENSG00000196628:ENST00000569357:exon3:c.A73C:p.N25H;ENSG00000196628:ENST00000398339:exon4:c.A451C:p.N151H;ENSG00000196628:ENST00000567880:exon2:c.A145C:p.N49H;	0.390898351989336	0.686
18	53252512	T	A	18	55585281	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_003199:exon3:c.A144T:p.S48S;TCF4:NM_001243230:exon2:c.A138T:p.S46S;TCF4:NM_001083962:exon3:c.A144T:p.S48S;TCF4:NM_001243227:exon2:c.A72T:p.S24S;TCF4:NM_001243226:exon4:c.A450T:p.S150S;TCF4:NM_001243228:exon3:c.A144T:p.S48S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A144T:p.S48S;ENSG00000196628:ENST00000568169:exon2:c.A156T:p.S52S;ENSG00000196628:ENST00000564999:exon3:c.A144T:p.S48S;ENSG00000196628:ENST00000568740:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000565018:exon3:c.A144T:p.S48S;ENSG00000196628:ENST00000568147:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000354452:exon3:c.A144T:p.S48S;ENSG00000196628:ENST00000566286:exon2:c.A138T:p.S46S;ENSG00000196628:ENST00000566514:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000356073:exon3:c.A144T:p.S48S;ENSG00000196628:ENST00000564343:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000562543:exon3:c.A144T:p.S48S;ENSG00000196628:ENST00000537578:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000563888:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000565124:exon4:c.A480T:p.S160S;ENSG00000196628:ENST00000564403:exon3:c.A144T:p.S48S;ENSG00000196628:ENST00000563824:exon1:c.A72T:p.S24S;ENSG00000196628:ENST00000565908:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000568673:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000540999:exon2:c.A72T:p.S24S;ENSG00000196628:ENST00000569357:exon3:c.A72T:p.S24S;ENSG00000196628:ENST00000398339:exon4:c.A450T:p.S150S;ENSG00000196628:ENST00000567880:exon2:c.A144T:p.S48S;	0.999287838085317	0.99
18	53252512	T	C	18	55585281	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_003199:exon3:c.A144G:p.S48S;TCF4:NM_001243230:exon2:c.A138G:p.S46S;TCF4:NM_001083962:exon3:c.A144G:p.S48S;TCF4:NM_001243227:exon2:c.A72G:p.S24S;TCF4:NM_001243226:exon4:c.A450G:p.S150S;TCF4:NM_001243228:exon3:c.A144G:p.S48S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A144G:p.S48S;ENSG00000196628:ENST00000568169:exon2:c.A156G:p.S52S;ENSG00000196628:ENST00000564999:exon3:c.A144G:p.S48S;ENSG00000196628:ENST00000568740:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000565018:exon3:c.A144G:p.S48S;ENSG00000196628:ENST00000568147:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000354452:exon3:c.A144G:p.S48S;ENSG00000196628:ENST00000566286:exon2:c.A138G:p.S46S;ENSG00000196628:ENST00000566514:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000356073:exon3:c.A144G:p.S48S;ENSG00000196628:ENST00000564343:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000562543:exon3:c.A144G:p.S48S;ENSG00000196628:ENST00000537578:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000563888:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000565124:exon4:c.A480G:p.S160S;ENSG00000196628:ENST00000564403:exon3:c.A144G:p.S48S;ENSG00000196628:ENST00000563824:exon1:c.A72G:p.S24S;ENSG00000196628:ENST00000565908:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000568673:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000540999:exon2:c.A72G:p.S24S;ENSG00000196628:ENST00000569357:exon3:c.A72G:p.S24S;ENSG00000196628:ENST00000398339:exon4:c.A450G:p.S150S;ENSG00000196628:ENST00000567880:exon2:c.A144G:p.S48S;	0.969375112825259	0.784
18	53252512	T	G	18	55585281	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_003199:exon3:c.A144C:p.S48S;TCF4:NM_001243230:exon2:c.A138C:p.S46S;TCF4:NM_001083962:exon3:c.A144C:p.S48S;TCF4:NM_001243227:exon2:c.A72C:p.S24S;TCF4:NM_001243226:exon4:c.A450C:p.S150S;TCF4:NM_001243228:exon3:c.A144C:p.S48S;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A144C:p.S48S;ENSG00000196628:ENST00000568169:exon2:c.A156C:p.S52S;ENSG00000196628:ENST00000564999:exon3:c.A144C:p.S48S;ENSG00000196628:ENST00000568740:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000565018:exon3:c.A144C:p.S48S;ENSG00000196628:ENST00000568147:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000354452:exon3:c.A144C:p.S48S;ENSG00000196628:ENST00000566286:exon2:c.A138C:p.S46S;ENSG00000196628:ENST00000566514:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000356073:exon3:c.A144C:p.S48S;ENSG00000196628:ENST00000564343:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000562543:exon3:c.A144C:p.S48S;ENSG00000196628:ENST00000537578:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000563888:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000565124:exon4:c.A480C:p.S160S;ENSG00000196628:ENST00000564403:exon3:c.A144C:p.S48S;ENSG00000196628:ENST00000563824:exon1:c.A72C:p.S24S;ENSG00000196628:ENST00000565908:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000568673:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000540999:exon2:c.A72C:p.S24S;ENSG00000196628:ENST00000569357:exon3:c.A72C:p.S24S;ENSG00000196628:ENST00000398339:exon4:c.A450C:p.S150S;ENSG00000196628:ENST00000567880:exon2:c.A144C:p.S48S;	0.988709106507584	0.906
18	53252513	G	A	18	55585282	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.C143T:p.S48L;TCF4:NM_001243230:exon2:c.C137T:p.S46L;TCF4:NM_001083962:exon3:c.C143T:p.S48L;TCF4:NM_001243227:exon2:c.C71T:p.S24L;TCF4:NM_001243226:exon4:c.C449T:p.S150L;TCF4:NM_001243228:exon3:c.C143T:p.S48L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.C143T:p.S48L;ENSG00000196628:ENST00000568169:exon2:c.C155T:p.S52L;ENSG00000196628:ENST00000564999:exon3:c.C143T:p.S48L;ENSG00000196628:ENST00000568740:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000565018:exon3:c.C143T:p.S48L;ENSG00000196628:ENST00000568147:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000354452:exon3:c.C143T:p.S48L;ENSG00000196628:ENST00000566286:exon2:c.C137T:p.S46L;ENSG00000196628:ENST00000566514:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000356073:exon3:c.C143T:p.S48L;ENSG00000196628:ENST00000564343:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000562543:exon3:c.C143T:p.S48L;ENSG00000196628:ENST00000537578:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000563888:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000565124:exon4:c.C479T:p.S160L;ENSG00000196628:ENST00000564403:exon3:c.C143T:p.S48L;ENSG00000196628:ENST00000563824:exon1:c.C71T:p.S24L;ENSG00000196628:ENST00000565908:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000568673:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000540999:exon2:c.C71T:p.S24L;ENSG00000196628:ENST00000569357:exon3:c.C71T:p.S24L;ENSG00000196628:ENST00000398339:exon4:c.C449T:p.S150L;ENSG00000196628:ENST00000567880:exon2:c.C143T:p.S48L;	0.999818986582288	0.966
18	53252513	G	C	18	55585282	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_003199:exon3:c.C143G:p.S48X;TCF4:NM_001243230:exon2:c.C137G:p.S46X;TCF4:NM_001083962:exon3:c.C143G:p.S48X;TCF4:NM_001243227:exon2:c.C71G:p.S24X;TCF4:NM_001243226:exon4:c.C449G:p.S150X;TCF4:NM_001243228:exon3:c.C143G:p.S48X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon3:c.C143G:p.S48X;ENSG00000196628:ENST00000568169:exon2:c.C155G:p.S52X;ENSG00000196628:ENST00000564999:exon3:c.C143G:p.S48X;ENSG00000196628:ENST00000568740:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000565018:exon3:c.C143G:p.S48X;ENSG00000196628:ENST00000568147:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000354452:exon3:c.C143G:p.S48X;ENSG00000196628:ENST00000566286:exon2:c.C137G:p.S46X;ENSG00000196628:ENST00000566514:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000356073:exon3:c.C143G:p.S48X;ENSG00000196628:ENST00000564343:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000562543:exon3:c.C143G:p.S48X;ENSG00000196628:ENST00000537578:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000563888:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000565124:exon4:c.C479G:p.S160X;ENSG00000196628:ENST00000564403:exon3:c.C143G:p.S48X;ENSG00000196628:ENST00000563824:exon1:c.C71G:p.S24X;ENSG00000196628:ENST00000565908:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000568673:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000540999:exon2:c.C71G:p.S24X;ENSG00000196628:ENST00000569357:exon3:c.C71G:p.S24X;ENSG00000196628:ENST00000398339:exon4:c.C449G:p.S150X;ENSG00000196628:ENST00000567880:exon2:c.C143G:p.S48X;	0.967092331544826	0.68
18	53252513	G	T	18	55585282	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_003199:exon3:c.C143A:p.S48X;TCF4:NM_001243230:exon2:c.C137A:p.S46X;TCF4:NM_001083962:exon3:c.C143A:p.S48X;TCF4:NM_001243227:exon2:c.C71A:p.S24X;TCF4:NM_001243226:exon4:c.C449A:p.S150X;TCF4:NM_001243228:exon3:c.C143A:p.S48X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566279:exon3:c.C143A:p.S48X;ENSG00000196628:ENST00000568169:exon2:c.C155A:p.S52X;ENSG00000196628:ENST00000564999:exon3:c.C143A:p.S48X;ENSG00000196628:ENST00000568740:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000565018:exon3:c.C143A:p.S48X;ENSG00000196628:ENST00000568147:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000354452:exon3:c.C143A:p.S48X;ENSG00000196628:ENST00000566286:exon2:c.C137A:p.S46X;ENSG00000196628:ENST00000566514:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000356073:exon3:c.C143A:p.S48X;ENSG00000196628:ENST00000564343:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000562543:exon3:c.C143A:p.S48X;ENSG00000196628:ENST00000537578:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000563888:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000565124:exon4:c.C479A:p.S160X;ENSG00000196628:ENST00000564403:exon3:c.C143A:p.S48X;ENSG00000196628:ENST00000563824:exon1:c.C71A:p.S24X;ENSG00000196628:ENST00000565908:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000568673:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000540999:exon2:c.C71A:p.S24X;ENSG00000196628:ENST00000569357:exon3:c.C71A:p.S24X;ENSG00000196628:ENST00000398339:exon4:c.C449A:p.S150X;ENSG00000196628:ENST00000567880:exon2:c.C143A:p.S48X;	0.958407848953764	0.82
18	53252582	A	C	18	55585351	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.T74G:p.M25R;TCF4:NM_001243230:exon2:c.T68G:p.M23R;TCF4:NM_001083962:exon3:c.T74G:p.M25R;TCF4:NM_001243227:exon2:c.T2G:p.M1R;TCF4:NM_001243226:exon4:c.T380G:p.M127R;TCF4:NM_001243228:exon3:c.T74G:p.M25R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.T74G:p.M25R;ENSG00000196628:ENST00000568169:exon2:c.T86G:p.M29R;ENSG00000196628:ENST00000564999:exon3:c.T74G:p.M25R;ENSG00000196628:ENST00000568740:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000565018:exon3:c.T74G:p.M25R;ENSG00000196628:ENST00000568147:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000354452:exon3:c.T74G:p.M25R;ENSG00000196628:ENST00000566286:exon2:c.T68G:p.M23R;ENSG00000196628:ENST00000566514:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000356073:exon3:c.T74G:p.M25R;ENSG00000196628:ENST00000564343:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000562543:exon3:c.T74G:p.M25R;ENSG00000196628:ENST00000537578:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000563888:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000565124:exon4:c.T410G:p.M137R;ENSG00000196628:ENST00000564403:exon3:c.T74G:p.M25R;ENSG00000196628:ENST00000563824:exon1:c.T2G:p.M1R;ENSG00000196628:ENST00000565908:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000568673:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000540999:exon2:c.T2G:p.M1R;ENSG00000196628:ENST00000569357:exon3:c.T2G:p.M1R;ENSG00000196628:ENST00000398339:exon4:c.T380G:p.M127R;ENSG00000196628:ENST00000567880:exon2:c.T74G:p.M25R;	0.172320406154801	0.408
18	53252582	A	G	18	55585351	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.T74C:p.M25T;TCF4:NM_001243230:exon2:c.T68C:p.M23T;TCF4:NM_001083962:exon3:c.T74C:p.M25T;TCF4:NM_001243227:exon2:c.T2C:p.M1T;TCF4:NM_001243226:exon4:c.T380C:p.M127T;TCF4:NM_001243228:exon3:c.T74C:p.M25T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.T74C:p.M25T;ENSG00000196628:ENST00000568169:exon2:c.T86C:p.M29T;ENSG00000196628:ENST00000564999:exon3:c.T74C:p.M25T;ENSG00000196628:ENST00000568740:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000565018:exon3:c.T74C:p.M25T;ENSG00000196628:ENST00000568147:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000354452:exon3:c.T74C:p.M25T;ENSG00000196628:ENST00000566286:exon2:c.T68C:p.M23T;ENSG00000196628:ENST00000566514:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000356073:exon3:c.T74C:p.M25T;ENSG00000196628:ENST00000564343:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000562543:exon3:c.T74C:p.M25T;ENSG00000196628:ENST00000537578:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000563888:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000565124:exon4:c.T410C:p.M137T;ENSG00000196628:ENST00000564403:exon3:c.T74C:p.M25T;ENSG00000196628:ENST00000563824:exon1:c.T2C:p.M1T;ENSG00000196628:ENST00000565908:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000568673:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000540999:exon2:c.T2C:p.M1T;ENSG00000196628:ENST00000569357:exon3:c.T2C:p.M1T;ENSG00000196628:ENST00000398339:exon4:c.T380C:p.M127T;ENSG00000196628:ENST00000567880:exon2:c.T74C:p.M25T;	0.172320406154801	0.43
18	53252582	A	T	18	55585351	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.T74A:p.M25K;TCF4:NM_001243230:exon2:c.T68A:p.M23K;TCF4:NM_001083962:exon3:c.T74A:p.M25K;TCF4:NM_001243227:exon2:c.T2A:p.M1K;TCF4:NM_001243226:exon4:c.T380A:p.M127K;TCF4:NM_001243228:exon3:c.T74A:p.M25K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.T74A:p.M25K;ENSG00000196628:ENST00000568169:exon2:c.T86A:p.M29K;ENSG00000196628:ENST00000564999:exon3:c.T74A:p.M25K;ENSG00000196628:ENST00000568740:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000565018:exon3:c.T74A:p.M25K;ENSG00000196628:ENST00000568147:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000354452:exon3:c.T74A:p.M25K;ENSG00000196628:ENST00000566286:exon2:c.T68A:p.M23K;ENSG00000196628:ENST00000566514:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000356073:exon3:c.T74A:p.M25K;ENSG00000196628:ENST00000564343:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000562543:exon3:c.T74A:p.M25K;ENSG00000196628:ENST00000537578:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000563888:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000565124:exon4:c.T410A:p.M137K;ENSG00000196628:ENST00000564403:exon3:c.T74A:p.M25K;ENSG00000196628:ENST00000563824:exon1:c.T2A:p.M1K;ENSG00000196628:ENST00000565908:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000568673:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000540999:exon2:c.T2A:p.M1K;ENSG00000196628:ENST00000569357:exon3:c.T2A:p.M1K;ENSG00000196628:ENST00000398339:exon4:c.T380A:p.M127K;ENSG00000196628:ENST00000567880:exon2:c.T74A:p.M25K;	0.254878101767011	0.452
18	53252583	T	A	18	55585352	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.A73T:p.M25L;TCF4:NM_001243230:exon2:c.A67T:p.M23L;TCF4:NM_001083962:exon3:c.A73T:p.M25L;TCF4:NM_001243227:exon2:c.A1T:p.M1L;TCF4:NM_001243226:exon4:c.A379T:p.M127L;TCF4:NM_001243228:exon3:c.A73T:p.M25L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A73T:p.M25L;ENSG00000196628:ENST00000568169:exon2:c.A85T:p.M29L;ENSG00000196628:ENST00000564999:exon3:c.A73T:p.M25L;ENSG00000196628:ENST00000568740:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000565018:exon3:c.A73T:p.M25L;ENSG00000196628:ENST00000568147:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000354452:exon3:c.A73T:p.M25L;ENSG00000196628:ENST00000566286:exon2:c.A67T:p.M23L;ENSG00000196628:ENST00000566514:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000356073:exon3:c.A73T:p.M25L;ENSG00000196628:ENST00000564343:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000562543:exon3:c.A73T:p.M25L;ENSG00000196628:ENST00000537578:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000563888:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000565124:exon4:c.A409T:p.M137L;ENSG00000196628:ENST00000564403:exon3:c.A73T:p.M25L;ENSG00000196628:ENST00000563824:exon1:c.A1T:p.M1L;ENSG00000196628:ENST00000565908:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000568673:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000540999:exon2:c.A1T:p.M1L;ENSG00000196628:ENST00000569357:exon3:c.A1T:p.M1L;ENSG00000196628:ENST00000398339:exon4:c.A379T:p.M127L;ENSG00000196628:ENST00000567880:exon2:c.A73T:p.M25L;	0.237688939823606	0.504
18	53252583	T	C	18	55585352	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.A73G:p.M25V;TCF4:NM_001243230:exon2:c.A67G:p.M23V;TCF4:NM_001083962:exon3:c.A73G:p.M25V;TCF4:NM_001243227:exon2:c.A1G:p.M1V;TCF4:NM_001243226:exon4:c.A379G:p.M127V;TCF4:NM_001243228:exon3:c.A73G:p.M25V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A73G:p.M25V;ENSG00000196628:ENST00000568169:exon2:c.A85G:p.M29V;ENSG00000196628:ENST00000564999:exon3:c.A73G:p.M25V;ENSG00000196628:ENST00000568740:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000565018:exon3:c.A73G:p.M25V;ENSG00000196628:ENST00000568147:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000354452:exon3:c.A73G:p.M25V;ENSG00000196628:ENST00000566286:exon2:c.A67G:p.M23V;ENSG00000196628:ENST00000566514:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000356073:exon3:c.A73G:p.M25V;ENSG00000196628:ENST00000564343:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000562543:exon3:c.A73G:p.M25V;ENSG00000196628:ENST00000537578:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000563888:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000565124:exon4:c.A409G:p.M137V;ENSG00000196628:ENST00000564403:exon3:c.A73G:p.M25V;ENSG00000196628:ENST00000563824:exon1:c.A1G:p.M1V;ENSG00000196628:ENST00000565908:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000568673:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000540999:exon2:c.A1G:p.M1V;ENSG00000196628:ENST00000569357:exon3:c.A1G:p.M1V;ENSG00000196628:ENST00000398339:exon4:c.A379G:p.M127V;ENSG00000196628:ENST00000567880:exon2:c.A73G:p.M25V;	0.324195992705942	0.578
18	53252583	T	G	18	55585352	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon3:c.A73C:p.M25L;TCF4:NM_001243230:exon2:c.A67C:p.M23L;TCF4:NM_001083962:exon3:c.A73C:p.M25L;TCF4:NM_001243227:exon2:c.A1C:p.M1L;TCF4:NM_001243226:exon4:c.A379C:p.M127L;TCF4:NM_001243228:exon3:c.A73C:p.M25L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon3:c.A73C:p.M25L;ENSG00000196628:ENST00000568169:exon2:c.A85C:p.M29L;ENSG00000196628:ENST00000564999:exon3:c.A73C:p.M25L;ENSG00000196628:ENST00000568740:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000565018:exon3:c.A73C:p.M25L;ENSG00000196628:ENST00000568147:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000354452:exon3:c.A73C:p.M25L;ENSG00000196628:ENST00000566286:exon2:c.A67C:p.M23L;ENSG00000196628:ENST00000566514:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000356073:exon3:c.A73C:p.M25L;ENSG00000196628:ENST00000564343:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000562543:exon3:c.A73C:p.M25L;ENSG00000196628:ENST00000537578:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000563888:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000565124:exon4:c.A409C:p.M137L;ENSG00000196628:ENST00000564403:exon3:c.A73C:p.M25L;ENSG00000196628:ENST00000563824:exon1:c.A1C:p.M1L;ENSG00000196628:ENST00000565908:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000568673:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000540999:exon2:c.A1C:p.M1L;ENSG00000196628:ENST00000569357:exon3:c.A1C:p.M1L;ENSG00000196628:ENST00000398339:exon4:c.A379C:p.M127L;ENSG00000196628:ENST00000567880:exon2:c.A73C:p.M25L;	0.258049989802663	0.614
18	53252584	C	A	18	55585353	y	y	splicing	TCF4(NM_001243226:exon5:c.379-1G>T;NM_001243230:exon3:c.67-1G>T;NM_001083962:exon4:c.73-1G>T;NM_003199:exon4:c.73-1G>T;NM_001243228:exon4:c.73-1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.73-1G>T;ENST00000356073:exon4:c.73-1G>T;ENST00000564999:exon4:c.73-1G>T;ENST00000565018:exon4:c.73-1G>T;ENST00000566279:exon4:c.73-1G>T;ENST00000566286:exon3:c.67-1G>T;ENST00000567880:exon3:c.73-1G>T;ENST00000398339:exon5:c.379-1G>T;ENST00000564403:exon4:c.73-1G>T;ENST00000568169:exon3:c.85-1G>T;ENST00000562543:exon4:c.73-1G>T;ENST00000565124:exon5:c.409-1G>T;ENST00000565393:exon5:c.279-1G>T)	.	.	0.999986675681007	0.934
18	53252584	C	G	18	55585353	y	y	splicing	TCF4(NM_001243226:exon5:c.379-1G>C;NM_001243230:exon3:c.67-1G>C;NM_001083962:exon4:c.73-1G>C;NM_003199:exon4:c.73-1G>C;NM_001243228:exon4:c.73-1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.73-1G>C;ENST00000356073:exon4:c.73-1G>C;ENST00000564999:exon4:c.73-1G>C;ENST00000565018:exon4:c.73-1G>C;ENST00000566279:exon4:c.73-1G>C;ENST00000566286:exon3:c.67-1G>C;ENST00000567880:exon3:c.73-1G>C;ENST00000398339:exon5:c.379-1G>C;ENST00000564403:exon4:c.73-1G>C;ENST00000568169:exon3:c.85-1G>C;ENST00000562543:exon4:c.73-1G>C;ENST00000565124:exon5:c.409-1G>C;ENST00000565393:exon5:c.279-1G>C)	.	.	0.999986675681007	0.934
18	53252584	C	T	18	55585353	y	y	splicing	TCF4(NM_001243226:exon5:c.379-1G>A;NM_001243230:exon3:c.67-1G>A;NM_001083962:exon4:c.73-1G>A;NM_003199:exon4:c.73-1G>A;NM_001243228:exon4:c.73-1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.73-1G>A;ENST00000356073:exon4:c.73-1G>A;ENST00000564999:exon4:c.73-1G>A;ENST00000565018:exon4:c.73-1G>A;ENST00000566279:exon4:c.73-1G>A;ENST00000566286:exon3:c.67-1G>A;ENST00000567880:exon3:c.73-1G>A;ENST00000398339:exon5:c.379-1G>A;ENST00000564403:exon4:c.73-1G>A;ENST00000568169:exon3:c.85-1G>A;ENST00000562543:exon4:c.73-1G>A;ENST00000565124:exon5:c.409-1G>A;ENST00000565393:exon5:c.279-1G>A)	.	.	0.999986675681007	0.934
18	53252585	T	A	18	55585354	y	y	splicing	TCF4(NM_001243226:exon5:c.379-2A>T;NM_001243230:exon3:c.67-2A>T;NM_001083962:exon4:c.73-2A>T;NM_003199:exon4:c.73-2A>T;NM_001243228:exon4:c.73-2A>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.73-2A>T;ENST00000356073:exon4:c.73-2A>T;ENST00000564999:exon4:c.73-2A>T;ENST00000565018:exon4:c.73-2A>T;ENST00000566279:exon4:c.73-2A>T;ENST00000566286:exon3:c.67-2A>T;ENST00000567880:exon3:c.73-2A>T;ENST00000398339:exon5:c.379-2A>T;ENST00000564403:exon4:c.73-2A>T;ENST00000568169:exon3:c.85-2A>T;ENST00000562543:exon4:c.73-2A>T;ENST00000565124:exon5:c.409-2A>T;ENST00000565393:exon5:c.279-2A>T)	.	.	0.999989917668626	0.924
18	53252585	T	C	18	55585354	y	y	splicing	TCF4(NM_001243226:exon5:c.379-2A>G;NM_001243230:exon3:c.67-2A>G;NM_001083962:exon4:c.73-2A>G;NM_003199:exon4:c.73-2A>G;NM_001243228:exon4:c.73-2A>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.73-2A>G;ENST00000356073:exon4:c.73-2A>G;ENST00000564999:exon4:c.73-2A>G;ENST00000565018:exon4:c.73-2A>G;ENST00000566279:exon4:c.73-2A>G;ENST00000566286:exon3:c.67-2A>G;ENST00000567880:exon3:c.73-2A>G;ENST00000398339:exon5:c.379-2A>G;ENST00000564403:exon4:c.73-2A>G;ENST00000568169:exon3:c.85-2A>G;ENST00000562543:exon4:c.73-2A>G;ENST00000565124:exon5:c.409-2A>G;ENST00000565393:exon5:c.279-2A>G)	.	.	0.999986903042585	0.926
18	53252585	T	G	18	55585354	y	y	splicing	TCF4(NM_001243226:exon5:c.379-2A>C;NM_001243230:exon3:c.67-2A>C;NM_001083962:exon4:c.73-2A>C;NM_003199:exon4:c.73-2A>C;NM_001243228:exon4:c.73-2A>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon4:c.73-2A>C;ENST00000356073:exon4:c.73-2A>C;ENST00000564999:exon4:c.73-2A>C;ENST00000565018:exon4:c.73-2A>C;ENST00000566279:exon4:c.73-2A>C;ENST00000566286:exon3:c.67-2A>C;ENST00000567880:exon3:c.73-2A>C;ENST00000398339:exon5:c.379-2A>C;ENST00000564403:exon4:c.73-2A>C;ENST00000568169:exon3:c.85-2A>C;ENST00000562543:exon4:c.73-2A>C;ENST00000565124:exon5:c.409-2A>C;ENST00000565393:exon5:c.279-2A>C)	.	.	0.999986903042585	0.926
18	53252586	A	C	18	55585355	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.997014839709811	0.71
18	53252586	A	G	18	55585355	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00166350622678959	0.016
18	53252586	A	T	18	55585355	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0891819634618024	0.266
18	53252587	A	C	18	55585356	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.56402842647939E-4	0.008
18	53252587	A	G	18	55585356	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.439018924901E-5	0.002
18	53252587	A	T	18	55585356	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.94837922881856E-4	0.006
18	53252588	A	C	18	55585357	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0214472089770677	0.368
18	53252588	A	G	18	55585357	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00765163319343936	0.14
18	53252588	A	T	18	55585357	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0105833284573186	0.364
18	53252589	A	C	18	55585358	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00683485733644198	0.194
18	53252589	A	G	18	55585358	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	4.29921295314913E-4	0.008
18	53252589	A	T	18	55585358	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00479772091632879	0.152
18	53252590	G	A	18	55585359	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00354681164086829	0.044
18	53252590	G	C	18	55585359	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00451310950733345	0.164
18	53252590	G	T	18	55585359	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00502759470143793	0.158
18	53252591	A	C	18	55585360	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0021709272461977	0.092
18	53252591	A	G	18	55585360	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.42554198043032E-4	0.014
18	53252591	A	T	18	55585360	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00316667915488804	0.1
18	53252592	A	C	18	55585361	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0387685138344065	0.354
18	53252592	A	G	18	55585361	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0130834964162895	0.178
18	53252592	A	T	18	55585361	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0874233962868185	0.364
18	53252593	A	C	18	55585362	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0698358238629679	0.404
18	53252593	A	G	18	55585362	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0139777130196181	0.264
18	53252593	A	T	18	55585362	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.240670064794269	0.444
18	53252594	C	A	18	55585363	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.43028960291128E-4	0.006
18	53252594	C	G	18	55585363	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.16713874802686E-4	0.006
18	53252594	C	T	18	55585363	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00530618964102646	0.08
18	53252595	A	C	18	55585364	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	4.46427528670509E-4	0.108
18	53252595	A	G	18	55585364	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.83246415773479E-4	0.012
18	53252595	A	T	18	55585364	y	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.997674025227722	0.886
18	53252947	T	A	18	55585716	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.42405513968405E-5	0.0
18	53252947	T	C	18	55585716	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.38259428211516E-5	0.0
18	53252947	T	G	18	55585716	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.38259428211516E-5	0.0
18	53252948	T	A	18	55585717	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.17425266746205E-4	0.0
18	53252948	T	C	18	55585717	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.37574485200314E-5	0.0
18	53252948	T	G	18	55585717	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.37574485200314E-5	0.0
18	53252949	G	A	18	55585718	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00161864645900532	0.022
18	53252949	G	C	18	55585718	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00109144849427603	0.008
18	53252949	G	T	18	55585718	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00109144849427603	0.008
18	53252950	A	C	18	55585719	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.97969936921093E-5	0.0
18	53252950	A	G	18	55585719	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.97969936921093E-5	0.0
18	53252950	A	T	18	55585719	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.97969936921093E-5	0.0
18	53252951	A	C	18	55585720	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.6236468669626E-4	0.002
18	53252951	A	G	18	55585720	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.6236468669626E-4	0.004
18	53252951	A	T	18	55585720	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.80257671126134E-4	0.01
18	53252952	A	C	18	55585721	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0123934927441747	0.03
18	53252952	A	G	18	55585721	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0123934927441747	0.03
18	53252952	A	T	18	55585721	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0129101427492937	0.032
18	53252953	A	C	18	55585722	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.00133757912346677	0.002
18	53252953	A	G	18	55585722	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.00112482129900456	0.002
18	53252953	A	T	18	55585722	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.00220285109689569	0.118
18	53252954	C	A	18	55585723	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.986152223221829	0.86
18	53252954	C	G	18	55585723	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.976656978115406	0.858
18	53252954	C	T	18	55585723	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.992648088255867	0.854
18	53252955	C	A	18	55585724	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0861748975146968	0.108
18	53252955	C	G	18	55585724	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.064779472259659	0.088
18	53252955	C	T	18	55585724	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0861748975146968	0.152
18	53252956	T	A	18	55585725	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.109357092331955	0.254
18	53252956	T	C	18	55585725	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0321157778440958	0.162
18	53252956	T	G	18	55585725	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0321157778440958	0.162
18	53252957	T	A	18	55585726	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.82254846753964E-4	0.002
18	53252957	T	C	18	55585726	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.32658667526046E-4	0.002
18	53252957	T	G	18	55585726	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.32658667526046E-4	0.002
18	53253034	A	C	18	55585803	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00857687757755011	0.024
18	53253034	A	G	18	55585803	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00857687757755011	0.024
18	53253034	A	T	18	55585803	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0132433476695507	0.028
18	53253035	G	A	18	55585804	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00233566774876716	0.036
18	53253035	G	C	18	55585804	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00159610464863394	0.038
18	53253035	G	T	18	55585804	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00236016390716474	0.03
18	53253036	T	A	18	55585805	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00857687757755011	0.026
18	53253036	T	C	18	55585805	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00823219393918979	0.022
18	53253036	T	G	18	55585805	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00823219393918979	0.022
18	53253037	G	A	18	55585806	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00261102217652179	0.07
18	53253037	G	C	18	55585806	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00261102217652179	0.048
18	53253037	G	T	18	55585806	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00261102217652179	0.054
18	53253038	C	A	18	55585807	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.064779472259659	0.064
18	53253038	C	G	18	55585807	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.042740114834783	0.06
18	53253038	C	T	18	55585807	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.064779472259659	0.082
18	53253039	C	A	18	55585808	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.042740114834783	0.064
18	53253039	C	G	18	55585808	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.042740114834783	0.06
18	53253039	C	T	18	55585808	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.064779472259659	0.082
18	53253040	A	C	18	55585809	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.886638769738415	0.76
18	53253040	A	G	18	55585809	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.886638769738415	0.76
18	53253040	A	T	18	55585809	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.901833099062358	0.77
18	53253041	C	A	18	55585810	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.993733916693694	0.866
18	53253041	C	G	18	55585810	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.993733916693694	0.864
18	53253041	C	T	18	55585810	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.993733916693694	0.876
18	53253042	C	A	18	55585811	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.101747750884609	0.218
18	53253042	C	G	18	55585811	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.101747750884609	0.192
18	53253042	C	T	18	55585811	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.610175718888826	0.326
18	53253043	T	A	18	55585812	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0944221853156123	0.422
18	53253043	T	C	18	55585812	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0366453081164039	0.156
18	53253043	T	G	18	55585812	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0366453081164039	0.166
18	53253044	G	A	18	55585813	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.101747750884609	0.23
18	53253044	G	C	18	55585813	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0861748975146968	0.13
18	53253044	G	T	18	55585813	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.101747750884609	0.21
18	53253102	T	A	18	55585871	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.51251131484881E-5	0.01
18	53253102	T	C	18	55585871	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.04496257018506E-4	0.028
18	53253102	T	G	18	55585871	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.04496257018506E-4	0.004
18	53253103	C	A	18	55585872	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.13298153506692E-4	0.03
18	53253103	C	G	18	55585872	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.13298153506692E-4	0.028
18	53253103	C	T	18	55585872	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00135093852262446	0.034
18	53253104	T	A	18	55585873	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00122913998718321	0.0
18	53253104	T	C	18	55585873	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00135470015719765	0.002
18	53253104	T	G	18	55585873	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00135470015719765	0.002
18	53253105	C	A	18	55585874	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0015557060732357	0.01
18	53253105	C	G	18	55585874	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00157203499164863	0.026
18	53253105	C	T	18	55585874	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00219290316122973	0.026
18	53253106	T	A	18	55585875	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0102170212523023	0.03
18	53253106	T	C	18	55585875	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00980707627852734	0.028
18	53253106	T	G	18	55585875	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00980707627852734	0.03
18	53253107	C	A	18	55585876	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00188465046214364	0.128
18	53253107	C	G	18	55585876	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00149468845798234	0.11
18	53253107	C	T	18	55585876	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00188465046214364	0.128
18	53253108	A	C	18	55585877	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.86678723866873E-4	0.014
18	53253108	A	G	18	55585877	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.86678723866873E-4	0.014
18	53253108	A	T	18	55585877	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	1.27668735052053E-4	0.018
18	53253109	C	A	18	55585878	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.00321566293571096	0.126
18	53253109	C	G	18	55585878	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.00321566293571096	0.114
18	53253109	C	T	18	55585878	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.00321566293571096	0.128
18	53253110	T	A	18	55585879	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00115128744468825	0.008
18	53253110	T	C	18	55585879	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00127265193793032	0.002
18	53253110	T	G	18	55585879	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00127265193793032	0.002
18	53253111	C	A	18	55585880	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0202349653983014	0.042
18	53253111	C	G	18	55585880	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0118721215473808	0.042
18	53253111	C	T	18	55585880	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0210715299483078	0.05
18	53253112	T	A	18	55585881	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	4.35480018914068E-5	0.0
18	53253112	T	C	18	55585881	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.63534827835342E-5	0.0
18	53253112	T	G	18	55585881	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.63534827835342E-5	0.0
18	53253196	A	C	18	55585965	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.64857229448119E-4	0.004
18	53253196	A	G	18	55585965	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.64857229448119E-4	0.006
18	53253196	A	T	18	55585965	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.64857229448119E-4	0.002
18	53253197	T	A	18	55585966	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.49817874025862E-4	0.0
18	53253197	T	C	18	55585966	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.09047657340479E-4	0.0
18	53253197	T	G	18	55585966	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.09047657340479E-4	0.0
18	53253198	G	A	18	55585967	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0045204461054641	0.042
18	53253198	G	C	18	55585967	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00507812376669703	0.046
18	53253198	G	T	18	55585967	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00439883050586627	0.044
18	53253199	C	A	18	55585968	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.793118250434253	0.426
18	53253199	C	G	18	55585968	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.17477320534835	0.262
18	53253199	C	T	18	55585968	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.793118250434253	0.588
18	53253200	A	C	18	55585969	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.95045924528898E-4	0.008
18	53253200	A	G	18	55585969	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.95045924528898E-4	0.01
18	53253200	A	T	18	55585969	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.95045924528898E-4	0.008
18	53253201	C	A	18	55585970	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.101747750884609	0.212
18	53253201	C	G	18	55585970	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0861748975146968	0.138
18	53253201	C	T	18	55585970	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.17477320534835	0.238
18	53253202	A	C	18	55585971	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.670071718772625	0.746
18	53253202	A	G	18	55585971	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.670071718772625	0.758
18	53253202	A	T	18	55585971	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.757300475418932	0.728
18	53253203	C	A	18	55585972	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.984343014727787	0.836
18	53253203	C	G	18	55585972	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.970725516157012	0.838
18	53253203	C	T	18	55585972	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	0.985952990863178	0.848
18	53253204	C	A	18	55585973	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.421575862709801	0.314
18	53253204	C	G	18	55585973	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0501010916027844	0.208
18	53253204	C	T	18	55585973	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.640944614863228	0.436
18	53253205	T	A	18	55585974	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.129962915763917	0.518
18	53253205	T	C	18	55585974	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0813865848456973	0.406
18	53253205	T	G	18	55585974	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0813865848456973	0.404
18	53253206	T	A	18	55585975	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.140493607526031	0.532
18	53253206	T	C	18	55585975	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0813865848456973	0.41
18	53253206	T	G	18	55585975	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0813865848456973	0.394
18	53254268	T	A	18	55587037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.399150606717926	0.58
18	53254268	T	C	18	55587037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.266219979511448	0.532
18	53254268	T	G	18	55587037	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.266219979511448	0.536
18	53254269	T	A	18	55587038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.74331287465802	0.59
18	53254269	T	C	18	55587038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.705030108428	0.574
18	53254269	T	G	18	55587038	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.659499343434677	0.562
18	53254270	T	A	18	55587039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0329696515385485	0.336
18	53254270	T	C	18	55587039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0502666793719111	0.368
18	53254270	T	G	18	55587039	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.402644894246544	0.566
18	53254271	C	A	18	55587040	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99981036868868	0.85
18	53254271	C	G	18	55587040	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999782764074221	0.982
18	53254271	C	T	18	55587040	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999527036067854	0.958
18	53254272	T	A	18	55587041	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999627390694339	0.95
18	53254272	T	C	18	55587041	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998946462034302	0.928
18	53254272	T	G	18	55587041	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998989920433219	0.9
18	53254273	T	A	18	55587042	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.9999163176643	0.984
18	53254273	T	C	18	55587042	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996521533696438	0.678
18	53254273	T	G	18	55587042	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.99981558533489	0.932
18	53254274	A	C	18	55587043	y	y	splicing	TCF4(NM_001243226:exon4:c.378+2T>G;NM_001083962:exon3:c.72+2T>G;NM_003199:exon3:c.72+2T>G;NM_001243228:exon3:c.72+2T>G)	.	.	splicing	ENSG00000196628(ENST00000354452:exon3:c.72+2T>G;ENST00000356073:exon3:c.72+2T>G;ENST00000564999:exon3:c.72+2T>G;ENST00000565018:exon3:c.72+2T>G;ENST00000566279:exon3:c.72+2T>G;ENST00000567880:exon2:c.72+2T>G;ENST00000398339:exon4:c.378+2T>G;ENST00000564403:exon3:c.72+2T>G;ENST00000562543:exon3:c.72+2T>G;ENST00000565124:exon4:c.408+2T>G;ENST00000565393:exon4:c.278+2T>G)	.	.	0.999988247793601	0.93
18	53254274	A	G	18	55587043	y	y	splicing	TCF4(NM_001243226:exon4:c.378+2T>C;NM_001083962:exon3:c.72+2T>C;NM_003199:exon3:c.72+2T>C;NM_001243228:exon3:c.72+2T>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon3:c.72+2T>C;ENST00000356073:exon3:c.72+2T>C;ENST00000564999:exon3:c.72+2T>C;ENST00000565018:exon3:c.72+2T>C;ENST00000566279:exon3:c.72+2T>C;ENST00000567880:exon2:c.72+2T>C;ENST00000398339:exon4:c.378+2T>C;ENST00000564403:exon3:c.72+2T>C;ENST00000562543:exon3:c.72+2T>C;ENST00000565124:exon4:c.408+2T>C;ENST00000565393:exon4:c.278+2T>C)	.	.	0.99991522016916	0.902
18	53254274	A	T	18	55587043	y	y	splicing	TCF4(NM_001243226:exon4:c.378+2T>A;NM_001083962:exon3:c.72+2T>A;NM_003199:exon3:c.72+2T>A;NM_001243228:exon3:c.72+2T>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon3:c.72+2T>A;ENST00000356073:exon3:c.72+2T>A;ENST00000564999:exon3:c.72+2T>A;ENST00000565018:exon3:c.72+2T>A;ENST00000566279:exon3:c.72+2T>A;ENST00000567880:exon2:c.72+2T>A;ENST00000398339:exon4:c.378+2T>A;ENST00000564403:exon3:c.72+2T>A;ENST00000562543:exon3:c.72+2T>A;ENST00000565124:exon4:c.408+2T>A;ENST00000565393:exon4:c.278+2T>A)	.	.	0.999988247793601	0.93
18	53254275	C	A	18	55587044	y	y	splicing	TCF4(NM_001243226:exon4:c.378+1G>T;NM_001083962:exon3:c.72+1G>T;NM_003199:exon3:c.72+1G>T;NM_001243228:exon3:c.72+1G>T)	.	.	splicing	ENSG00000196628(ENST00000354452:exon3:c.72+1G>T;ENST00000356073:exon3:c.72+1G>T;ENST00000564999:exon3:c.72+1G>T;ENST00000565018:exon3:c.72+1G>T;ENST00000566279:exon3:c.72+1G>T;ENST00000567880:exon2:c.72+1G>T;ENST00000398339:exon4:c.378+1G>T;ENST00000564403:exon3:c.72+1G>T;ENST00000562543:exon3:c.72+1G>T;ENST00000565124:exon4:c.408+1G>T;ENST00000565393:exon4:c.278+1G>T)	.	.	0.999990361384395	0.938
18	53254275	C	G	18	55587044	y	y	splicing	TCF4(NM_001243226:exon4:c.378+1G>C;NM_001083962:exon3:c.72+1G>C;NM_003199:exon3:c.72+1G>C;NM_001243228:exon3:c.72+1G>C)	.	.	splicing	ENSG00000196628(ENST00000354452:exon3:c.72+1G>C;ENST00000356073:exon3:c.72+1G>C;ENST00000564999:exon3:c.72+1G>C;ENST00000565018:exon3:c.72+1G>C;ENST00000566279:exon3:c.72+1G>C;ENST00000567880:exon2:c.72+1G>C;ENST00000398339:exon4:c.378+1G>C;ENST00000564403:exon3:c.72+1G>C;ENST00000562543:exon3:c.72+1G>C;ENST00000565124:exon4:c.408+1G>C;ENST00000565393:exon4:c.278+1G>C)	.	.	0.999990361384395	0.938
18	53254275	C	T	18	55587044	y	y	splicing	TCF4(NM_001243226:exon4:c.378+1G>A;NM_001083962:exon3:c.72+1G>A;NM_003199:exon3:c.72+1G>A;NM_001243228:exon3:c.72+1G>A)	.	.	splicing	ENSG00000196628(ENST00000354452:exon3:c.72+1G>A;ENST00000356073:exon3:c.72+1G>A;ENST00000564999:exon3:c.72+1G>A;ENST00000565018:exon3:c.72+1G>A;ENST00000566279:exon3:c.72+1G>A;ENST00000567880:exon2:c.72+1G>A;ENST00000398339:exon4:c.378+1G>A;ENST00000564403:exon3:c.72+1G>A;ENST00000562543:exon3:c.72+1G>A;ENST00000565124:exon4:c.408+1G>A;ENST00000565393:exon4:c.278+1G>A)	.	.	0.999990361384395	0.938
18	53254276	C	A	18	55587045	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_003199:exon2:c.G72T:p.A24A;TCF4:NM_001083962:exon2:c.G72T:p.A24A;TCF4:NM_001243226:exon3:c.G378T:p.A126A;TCF4:NM_001243228:exon2:c.G72T:p.A24A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.G72T:p.A24A;ENSG00000196628:ENST00000564999:exon2:c.G72T:p.A24A;ENSG00000196628:ENST00000565018:exon2:c.G72T:p.A24A;ENSG00000196628:ENST00000354452:exon2:c.G72T:p.A24A;ENSG00000196628:ENST00000356073:exon2:c.G72T:p.A24A;ENSG00000196628:ENST00000562543:exon2:c.G72T:p.A24A;ENSG00000196628:ENST00000565124:exon3:c.G408T:p.A136A;ENSG00000196628:ENST00000564403:exon2:c.G72T:p.A24A;ENSG00000196628:ENST00000398339:exon3:c.G378T:p.A126A;ENSG00000196628:ENST00000567880:exon1:c.G72T:p.A24A;	0.999947019292588	0.996
18	53254276	C	G	18	55587045	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_003199:exon2:c.G72C:p.A24A;TCF4:NM_001083962:exon2:c.G72C:p.A24A;TCF4:NM_001243226:exon3:c.G378C:p.A126A;TCF4:NM_001243228:exon2:c.G72C:p.A24A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.G72C:p.A24A;ENSG00000196628:ENST00000564999:exon2:c.G72C:p.A24A;ENSG00000196628:ENST00000565018:exon2:c.G72C:p.A24A;ENSG00000196628:ENST00000354452:exon2:c.G72C:p.A24A;ENSG00000196628:ENST00000356073:exon2:c.G72C:p.A24A;ENSG00000196628:ENST00000562543:exon2:c.G72C:p.A24A;ENSG00000196628:ENST00000565124:exon3:c.G408C:p.A136A;ENSG00000196628:ENST00000564403:exon2:c.G72C:p.A24A;ENSG00000196628:ENST00000398339:exon3:c.G378C:p.A126A;ENSG00000196628:ENST00000567880:exon1:c.G72C:p.A24A;	0.999996009860155	0.996
18	53254276	C	T	18	55587045	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_003199:exon2:c.G72A:p.A24A;TCF4:NM_001083962:exon2:c.G72A:p.A24A;TCF4:NM_001243226:exon3:c.G378A:p.A126A;TCF4:NM_001243228:exon2:c.G72A:p.A24A;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.G72A:p.A24A;ENSG00000196628:ENST00000564999:exon2:c.G72A:p.A24A;ENSG00000196628:ENST00000565018:exon2:c.G72A:p.A24A;ENSG00000196628:ENST00000354452:exon2:c.G72A:p.A24A;ENSG00000196628:ENST00000356073:exon2:c.G72A:p.A24A;ENSG00000196628:ENST00000562543:exon2:c.G72A:p.A24A;ENSG00000196628:ENST00000565124:exon3:c.G408A:p.A136A;ENSG00000196628:ENST00000564403:exon2:c.G72A:p.A24A;ENSG00000196628:ENST00000398339:exon3:c.G378A:p.A126A;ENSG00000196628:ENST00000567880:exon1:c.G72A:p.A24A;	0.999986032547783	0.98
18	53254277	G	A	18	55587046	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon2:c.C71T:p.A24V;TCF4:NM_001083962:exon2:c.C71T:p.A24V;TCF4:NM_001243226:exon3:c.C377T:p.A126V;TCF4:NM_001243228:exon2:c.C71T:p.A24V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.C71T:p.A24V;ENSG00000196628:ENST00000564999:exon2:c.C71T:p.A24V;ENSG00000196628:ENST00000565018:exon2:c.C71T:p.A24V;ENSG00000196628:ENST00000354452:exon2:c.C71T:p.A24V;ENSG00000196628:ENST00000356073:exon2:c.C71T:p.A24V;ENSG00000196628:ENST00000562543:exon2:c.C71T:p.A24V;ENSG00000196628:ENST00000565124:exon3:c.C407T:p.A136V;ENSG00000196628:ENST00000564403:exon2:c.C71T:p.A24V;ENSG00000196628:ENST00000398339:exon3:c.C377T:p.A126V;ENSG00000196628:ENST00000567880:exon1:c.C71T:p.A24V;	0.990815933955434	0.868
18	53254277	G	C	18	55587046	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon2:c.C71G:p.A24G;TCF4:NM_001083962:exon2:c.C71G:p.A24G;TCF4:NM_001243226:exon3:c.C377G:p.A126G;TCF4:NM_001243228:exon2:c.C71G:p.A24G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.C71G:p.A24G;ENSG00000196628:ENST00000564999:exon2:c.C71G:p.A24G;ENSG00000196628:ENST00000565018:exon2:c.C71G:p.A24G;ENSG00000196628:ENST00000354452:exon2:c.C71G:p.A24G;ENSG00000196628:ENST00000356073:exon2:c.C71G:p.A24G;ENSG00000196628:ENST00000562543:exon2:c.C71G:p.A24G;ENSG00000196628:ENST00000565124:exon3:c.C407G:p.A136G;ENSG00000196628:ENST00000564403:exon2:c.C71G:p.A24G;ENSG00000196628:ENST00000398339:exon3:c.C377G:p.A126G;ENSG00000196628:ENST00000567880:exon1:c.C71G:p.A24G;	0.978115435539141	0.86
18	53254277	G	T	18	55587046	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon2:c.C71A:p.A24E;TCF4:NM_001083962:exon2:c.C71A:p.A24E;TCF4:NM_001243226:exon3:c.C377A:p.A126E;TCF4:NM_001243228:exon2:c.C71A:p.A24E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.C71A:p.A24E;ENSG00000196628:ENST00000564999:exon2:c.C71A:p.A24E;ENSG00000196628:ENST00000565018:exon2:c.C71A:p.A24E;ENSG00000196628:ENST00000354452:exon2:c.C71A:p.A24E;ENSG00000196628:ENST00000356073:exon2:c.C71A:p.A24E;ENSG00000196628:ENST00000562543:exon2:c.C71A:p.A24E;ENSG00000196628:ENST00000565124:exon3:c.C407A:p.A136E;ENSG00000196628:ENST00000564403:exon2:c.C71A:p.A24E;ENSG00000196628:ENST00000398339:exon3:c.C377A:p.A126E;ENSG00000196628:ENST00000567880:exon1:c.C71A:p.A24E;	0.962601000731202	0.76
18	53254278	C	A	18	55587047	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon2:c.G70T:p.A24S;TCF4:NM_001083962:exon2:c.G70T:p.A24S;TCF4:NM_001243226:exon3:c.G376T:p.A126S;TCF4:NM_001243228:exon2:c.G70T:p.A24S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.G70T:p.A24S;ENSG00000196628:ENST00000564999:exon2:c.G70T:p.A24S;ENSG00000196628:ENST00000565018:exon2:c.G70T:p.A24S;ENSG00000196628:ENST00000354452:exon2:c.G70T:p.A24S;ENSG00000196628:ENST00000356073:exon2:c.G70T:p.A24S;ENSG00000196628:ENST00000562543:exon2:c.G70T:p.A24S;ENSG00000196628:ENST00000565124:exon3:c.G406T:p.A136S;ENSG00000196628:ENST00000564403:exon2:c.G70T:p.A24S;ENSG00000196628:ENST00000398339:exon3:c.G376T:p.A126S;ENSG00000196628:ENST00000567880:exon1:c.G70T:p.A24S;	0.983988804911949	0.832
18	53254278	C	G	18	55587047	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon2:c.G70C:p.A24P;TCF4:NM_001083962:exon2:c.G70C:p.A24P;TCF4:NM_001243226:exon3:c.G376C:p.A126P;TCF4:NM_001243228:exon2:c.G70C:p.A24P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.G70C:p.A24P;ENSG00000196628:ENST00000564999:exon2:c.G70C:p.A24P;ENSG00000196628:ENST00000565018:exon2:c.G70C:p.A24P;ENSG00000196628:ENST00000354452:exon2:c.G70C:p.A24P;ENSG00000196628:ENST00000356073:exon2:c.G70C:p.A24P;ENSG00000196628:ENST00000562543:exon2:c.G70C:p.A24P;ENSG00000196628:ENST00000565124:exon3:c.G406C:p.A136P;ENSG00000196628:ENST00000564403:exon2:c.G70C:p.A24P;ENSG00000196628:ENST00000398339:exon3:c.G376C:p.A126P;ENSG00000196628:ENST00000567880:exon1:c.G70C:p.A24P;	0.948131495709646	0.796
18	53254278	C	T	18	55587047	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_003199:exon2:c.G70A:p.A24T;TCF4:NM_001083962:exon2:c.G70A:p.A24T;TCF4:NM_001243226:exon3:c.G376A:p.A126T;TCF4:NM_001243228:exon2:c.G70A:p.A24T;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566279:exon2:c.G70A:p.A24T;ENSG00000196628:ENST00000564999:exon2:c.G70A:p.A24T;ENSG00000196628:ENST00000565018:exon2:c.G70A:p.A24T;ENSG00000196628:ENST00000354452:exon2:c.G70A:p.A24T;ENSG00000196628:ENST00000356073:exon2:c.G70A:p.A24T;ENSG00000196628:ENST00000562543:exon2:c.G70A:p.A24T;ENSG00000196628:ENST00000565124:exon3:c.G406A:p.A136T;ENSG00000196628:ENST00000564403:exon2:c.G70A:p.A24T;ENSG00000196628:ENST00000398339:exon3:c.G376A:p.A126T;ENSG00000196628:ENST00000567880:exon1:c.G70A:p.A24T;	0.948131495709646	0.806
18	53254366	A	C	18	55587135	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243226:exon3:c.T288G:p.G96G;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000565124:exon3:c.T318G:p.R106R;ENSG00000196628:ENST00000398339:exon3:c.T288G:p.G96G;	0.0404879086507311	0.226
18	53254366	A	G	18	55587135	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243226:exon3:c.T288C:p.G96G;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000565124:exon3:c.T318C:p.R106R;ENSG00000196628:ENST00000398339:exon3:c.T288C:p.G96G;	0.142051088393222	0.244
18	53254366	A	T	18	55587135	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243226:exon3:c.T288A:p.G96G;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000565124:exon3:c.T318A:p.R106R;ENSG00000196628:ENST00000398339:exon3:c.T288A:p.G96G;	0.251845104002413	0.164
18	53254367	C	A	18	55587136	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon3:c.G287T:p.G96V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon3:c.G317T:p.R106L;ENSG00000196628:ENST00000398339:exon3:c.G287T:p.G96V;	0.999660867480595	0.982
18	53254367	C	G	18	55587136	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon3:c.G287C:p.G96A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon3:c.G317C:p.R106P;ENSG00000196628:ENST00000398339:exon3:c.G287C:p.G96A;	0.998917611719779	0.936
18	53254367	C	T	18	55587136	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon3:c.G287A:p.G96D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon3:c.G317A:p.R106H;ENSG00000196628:ENST00000398339:exon3:c.G287A:p.G96D;	0.999533689877166	0.904
18	53254368	C	A	18	55587137	y	y	splicing	TCF4(NM_001243226:exon4:c.287-1G>T)	.	.	splicing	ENSG00000196628(ENST00000398339:exon4:c.287-1G>T;ENST00000565124:exon4:c.317-1G>T;ENST00000565393:exon4:c.187-1G>T)	.	.	0.999986675681007	0.93
18	53254368	C	G	18	55587137	y	y	splicing	TCF4(NM_001243226:exon4:c.287-1G>C)	.	.	splicing	ENSG00000196628(ENST00000398339:exon4:c.287-1G>C;ENST00000565124:exon4:c.317-1G>C;ENST00000565393:exon4:c.187-1G>C)	.	.	0.999986675681007	0.92
18	53254368	C	T	18	55587137	y	y	splicing	TCF4(NM_001243226:exon4:c.287-1G>A)	.	.	splicing	ENSG00000196628(ENST00000398339:exon4:c.287-1G>A;ENST00000565124:exon4:c.317-1G>A;ENST00000565393:exon4:c.187-1G>A)	.	.	0.999986675681007	0.93
18	53254369	T	A	18	55587138	y	y	splicing	TCF4(NM_001243226:exon4:c.287-2A>T)	.	.	splicing	ENSG00000196628(ENST00000398339:exon4:c.287-2A>T;ENST00000565124:exon4:c.317-2A>T;ENST00000565393:exon4:c.187-2A>T)	.	.	0.999988247793601	0.924
18	53254369	T	C	18	55587138	y	y	splicing	TCF4(NM_001243226:exon4:c.287-2A>G)	.	.	splicing	ENSG00000196628(ENST00000398339:exon4:c.287-2A>G;ENST00000565124:exon4:c.317-2A>G;ENST00000565393:exon4:c.187-2A>G)	.	.	0.999988247793601	0.924
18	53254369	T	G	18	55587138	y	y	splicing	TCF4(NM_001243226:exon4:c.287-2A>C)	.	.	splicing	ENSG00000196628(ENST00000398339:exon4:c.287-2A>C;ENST00000565124:exon4:c.317-2A>C;ENST00000565393:exon4:c.187-2A>C)	.	.	0.999988247793601	0.924
18	53254370	A	C	18	55587139	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.998397418372817	0.892
18	53254370	A	G	18	55587139	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00415523997204863	0.036
18	53254370	A	T	18	55587139	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.780682260960712	0.554
18	53254371	G	A	18	55587140	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.019832646673668	0.086
18	53254371	G	C	18	55587140	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0194160737881121	0.178
18	53254371	G	T	18	55587140	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00832693884327975	0.166
18	53254372	A	C	18	55587141	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.995712510607012	0.948
18	53254372	A	G	18	55587141	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.166702253668348	0.364
18	53254372	A	T	18	55587141	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.996107245030644	0.942
18	53254373	A	C	18	55587142	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.989412177206859	0.806
18	53254373	A	G	18	55587142	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0103724976104031	0.33
18	53254373	A	T	18	55587142	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.98049430058803	0.758
18	53254374	A	C	18	55587143	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.98392281862867	0.604
18	53254374	A	G	18	55587143	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0101650948489565	0.286
18	53254374	A	T	18	55587143	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.994163048415976	0.686
18	53254375	C	A	18	55587144	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.156694179554718	0.362
18	53254375	C	G	18	55587144	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.216931027472175	0.386
18	53254375	C	T	18	55587144	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.766470292061714	0.56
18	53254376	A	C	18	55587145	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999960975402878	0.952
18	53254376	A	G	18	55587145	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0496109358749836	0.234
18	53254376	A	T	18	55587145	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999953794853519	0.95
18	53254377	T	A	18	55587146	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0132825067096657	0.228
18	53254377	T	C	18	55587146	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0817275140995153	0.236
18	53254377	T	G	18	55587146	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0249961936772729	0.202
18	53254378	G	A	18	55587147	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.156694179554718	0.332
18	53254378	G	C	18	55587147	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.574049835291409	0.384
18	53254378	G	T	18	55587147	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.895510790271282	0.562
18	53254379	G	A	18	55587148	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.359163353325814	0.486
18	53254379	G	C	18	55587148	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.859434917014207	0.584
18	53254379	G	T	18	55587148	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.971519772793237	0.6
18	53255261	G	A	18	55588030	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.62829891511816E-5	0.006
18	53255261	G	C	18	55588030	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.62829891511816E-5	0.002
18	53255261	G	T	18	55588030	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.62829891511816E-5	0.002
18	53255262	T	A	18	55588031	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.03719895284828E-4	0.0
18	53255262	T	C	18	55588031	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.03719895284828E-4	0.0
18	53255262	T	G	18	55588031	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.03719895284828E-4	0.0
18	53255263	A	C	18	55588032	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.82017530859512E-4	0.01
18	53255263	A	G	18	55588032	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.82017530859512E-4	0.01
18	53255263	A	T	18	55588032	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.82017530859512E-4	0.01
18	53255264	C	A	18	55588033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.59400925194795E-4	0.008
18	53255264	C	G	18	55588033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.54126857622086E-4	0.008
18	53255264	C	T	18	55588033	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.59400925194795E-4	0.008
18	53255265	C	A	18	55588034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.55769258255145E-4	0.008
18	53255265	C	G	18	55588034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.55769258255145E-4	0.008
18	53255265	C	T	18	55588034	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.55769258255145E-4	0.008
18	53255266	T	A	18	55588035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.77408614152888E-4	0.01
18	53255266	T	C	18	55588035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.82017530859512E-4	0.01
18	53255266	T	G	18	55588035	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.82017530859512E-4	0.01
18	53255267	A	C	18	55588036	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	6.08919612269704E-4	0.02
18	53255267	A	G	18	55588036	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	6.08919612269704E-4	0.02
18	53255267	A	T	18	55588036	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	6.08919612269704E-4	0.052
18	53255268	C	A	18	55588037	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	8.67639739067019E-4	0.028
18	53255268	C	G	18	55588037	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	8.67639739067019E-4	0.068
18	53255268	C	T	18	55588037	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	8.67639739067019E-4	0.034
18	53255269	C	A	18	55588038	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.37816384761232E-4	0.008
18	53255269	C	G	18	55588038	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.59400925194795E-4	0.008
18	53255269	C	T	18	55588038	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	4.30457634913238E-4	0.008
18	53255270	G	A	18	55588039	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	4.30457634913238E-4	0.008
18	53255270	G	C	18	55588039	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.4513960182959E-4	0.008
18	53255270	G	T	18	55588039	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	4.30457634913238E-4	0.008
18	53255271	C	A	18	55588040	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.83490353963229E-5	0.004
18	53255271	C	G	18	55588040	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.41208634289763E-5	0.004
18	53255271	C	T	18	55588040	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.83490353963229E-5	0.004
18	53255672	A	C	18	55588441	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00149476155890927	0.01
18	53255672	A	G	18	55588441	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00149476155890927	0.01
18	53255672	A	T	18	55588441	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00149476155890927	0.01
18	53255673	A	C	18	55588442	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.06850435703539E-5	0.046
18	53255673	A	G	18	55588442	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.06850435703539E-5	0.028
18	53255673	A	T	18	55588442	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	4.53814986019981E-5	0.006
18	53255674	A	C	18	55588443	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.4243997895107E-5	0.016
18	53255674	A	G	18	55588443	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.4243997895107E-5	0.016
18	53255674	A	T	18	55588443	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.4243997895107E-5	0.018
18	53255675	A	C	18	55588444	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.48367148474546E-5	0.01
18	53255675	A	G	18	55588444	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.48367148474546E-5	0.01
18	53255675	A	T	18	55588444	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.4243997895107E-5	0.012
18	53255676	A	C	18	55588445	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.36106780005268E-5	0.014
18	53255676	A	G	18	55588445	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.15729005645545E-5	0.036
18	53255676	A	T	18	55588445	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	2.36106780005268E-5	0.002
18	53255677	T	A	18	55588446	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.42544334184685E-5	0.014
18	53255677	T	C	18	55588446	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.42544334184685E-5	0.012
18	53255677	T	G	18	55588446	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.42544334184685E-5	0.012
18	53255678	A	C	18	55588447	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	8.24824353344448E-5	0.006
18	53255678	A	G	18	55588447	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	8.24824353344448E-5	0.006
18	53255678	A	T	18	55588447	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	3.76020749564062E-5	0.006
18	53255679	C	A	18	55588448	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	6.91917290886166E-5	0.0
18	53255679	C	G	18	55588448	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	6.91917290886166E-5	0.0
18	53255679	C	T	18	55588448	n	y	UTR5	TCF4	.	.	splicing	ENSG00000196628	.	.	6.91917290886166E-5	0.0
18	53255680	A	C	18	55588449	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.11389651227104E-4	0.006
18	53255680	A	G	18	55588449	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.11389651227104E-4	0.006
18	53255680	A	T	18	55588449	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	1.11389651227104E-4	0.006
18	53255681	A	C	18	55588450	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.09184747739173E-5	0.006
18	53255681	A	G	18	55588450	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.09184747739173E-5	0.006
18	53255681	A	T	18	55588450	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	6.09184747739173E-5	0.006
18	53255682	A	C	18	55588451	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00219018686618842	0.038
18	53255682	A	G	18	55588451	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00168007639731733	0.02
18	53255682	A	T	18	55588451	n	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00294682849973155	0.018
18	53255693	T	A	18	55588462	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.69439264402225E-5	0.0
18	53255693	T	C	18	55588462	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.69439264402225E-5	0.0
18	53255693	T	G	18	55588462	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	5.69439264402225E-5	0.0
18	53255694	C	A	18	55588463	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00209292743427728	0.002
18	53255694	C	G	18	55588463	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00116188375912554	0.0
18	53255694	C	T	18	55588463	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00209292743427728	0.0
18	53255695	G	A	18	55588464	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00209292743427728	0.002
18	53255695	G	C	18	55588464	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00116188375912554	0.0
18	53255695	G	T	18	55588464	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00148836982790808	0.0
18	53255696	A	C	18	55588465	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.49360654109982E-4	0.026
18	53255696	A	G	18	55588465	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.49360654109982E-4	0.026
18	53255696	A	T	18	55588465	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00127788430483434	0.022
18	53255697	G	A	18	55588466	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00812086437068341	0.024
18	53255697	G	C	18	55588466	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00812086437068341	0.02
18	53255697	G	T	18	55588466	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00812086437068341	0.028
18	53255698	C	A	18	55588467	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00559221332784221	0.026
18	53255698	C	G	18	55588467	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00409210011662023	0.024
18	53255698	C	T	18	55588467	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.00550217064246275	0.02
18	53255699	A	C	18	55588468	y	y	splicing	TCF4(NM_001243230:exon2:c.66+2T>G)	.	.	splicing	ENSG00000196628(ENST00000566286:exon2:c.66+2T>G)	.	.	0.0251573007428338	0.366
18	53255699	A	G	18	55588468	y	y	splicing	TCF4(NM_001243230:exon2:c.66+2T>C)	.	.	splicing	ENSG00000196628(ENST00000566286:exon2:c.66+2T>C)	.	.	0.0251573007428338	0.368
18	53255699	A	T	18	55588468	y	y	splicing	TCF4(NM_001243230:exon2:c.66+2T>A)	.	.	splicing	ENSG00000196628(ENST00000566286:exon2:c.66+2T>A)	.	.	0.0651162484089203	0.366
18	53255700	C	A	18	55588469	y	y	splicing	TCF4(NM_001243230:exon2:c.66+1G>T)	.	.	splicing	ENSG00000196628(ENST00000566286:exon2:c.66+1G>T)	.	.	0.148223485944707	0.458
18	53255700	C	G	18	55588469	y	y	splicing	TCF4(NM_001243230:exon2:c.66+1G>C)	.	.	splicing	ENSG00000196628(ENST00000566286:exon2:c.66+1G>C)	.	.	0.0935558153847656	0.384
18	53255700	C	T	18	55588469	y	y	splicing	TCF4(NM_001243230:exon2:c.66+1G>A)	.	.	splicing	ENSG00000196628(ENST00000566286:exon2:c.66+1G>A)	.	.	0.217875294483914	0.436
18	53255701	C	A	18	55588470	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243230:exon1:c.G66T:p.E22D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566286:exon1:c.G66T:p.E22D;	0.00812086437068341	0.03
18	53255701	C	G	18	55588470	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243230:exon1:c.G66C:p.E22D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566286:exon1:c.G66C:p.E22D;	0.00812086437068341	0.02
18	53255701	C	T	18	55588470	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243230:exon1:c.G66A:p.E22E;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000566286:exon1:c.G66A:p.E22E;	0.00812086437068341	0.024
18	53255702	T	A	18	55588471	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243230:exon1:c.A65T:p.E22V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566286:exon1:c.A65T:p.E22V;	0.00692000194525311	0.038
18	53255702	T	C	18	55588471	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243230:exon1:c.A65G:p.E22G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566286:exon1:c.A65G:p.E22G;	0.00764482882370293	0.038
18	53255702	T	G	18	55588471	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243230:exon1:c.A65C:p.E22A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566286:exon1:c.A65C:p.E22A;	0.00764482882370293	0.038
18	53255703	C	A	18	55588472	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243230:exon1:c.G64T:p.E22X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000566286:exon1:c.G64T:p.E22X;	0.00812086437068341	0.026
18	53255703	C	G	18	55588472	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243230:exon1:c.G64C:p.E22Q;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566286:exon1:c.G64C:p.E22Q;	0.00812086437068341	0.02
18	53255703	C	T	18	55588472	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243230:exon1:c.G64A:p.E22K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000566286:exon1:c.G64A:p.E22K;	0.00812086437068341	0.022
18	53256520	A	C	18	55589289	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0137900093678223	0.032
18	53256520	A	G	18	55589289	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0137900093678223	0.032
18	53256520	A	T	18	55589289	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0165566160867694	0.034
18	53256521	A	C	18	55589290	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0137900093678223	0.036
18	53256521	A	G	18	55589290	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0137900093678223	0.032
18	53256521	A	T	18	55589290	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0165566160867694	0.034
18	53256522	C	A	18	55589291	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0203041913402469	0.092
18	53256522	C	G	18	55589291	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0203041913402469	0.08
18	53256522	C	T	18	55589291	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0343998936554931	0.082
18	53256523	G	A	18	55589292	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0181969847446306	0.068
18	53256523	G	C	18	55589292	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0123696162114533	0.07
18	53256523	G	T	18	55589292	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0181969847446306	0.066
18	53256524	T	A	18	55589293	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0165566160867694	0.036
18	53256524	T	C	18	55589293	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0165566160867694	0.036
18	53256524	T	G	18	55589293	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0165566160867694	0.036
18	53256525	T	A	18	55589294	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0165566160867694	0.036
18	53256525	T	C	18	55589294	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0137900093678223	0.032
18	53256525	T	G	18	55589294	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.01589638821372	0.032
18	53256526	A	C	18	55589295	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	0.876120678835601	0.652
18	53256526	A	G	18	55589295	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	0.860431358565143	0.65
18	53256526	A	T	18	55589295	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	0.902669145174277	0.68
18	53256527	C	A	18	55589296	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	0.992474646220614	0.882
18	53256527	C	G	18	55589296	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	0.991172541478441	0.872
18	53256527	C	T	18	55589296	y	y	splicing	TCF4	.	.	splicing	ENSG00000196628	.	.	0.992474646220614	0.882
18	53256528	C	A	18	55589297	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0358006737300201	0.088
18	53256528	C	G	18	55589297	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0358006737300201	0.086
18	53256528	C	T	18	55589297	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0544652403886408	0.102
18	53256529	T	A	18	55589298	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.034336795797095	0.092
18	53256529	T	C	18	55589298	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.034336795797095	0.046
18	53256529	T	G	18	55589298	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.034336795797095	0.046
18	53256530	T	A	18	55589299	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.0409617790817366	0.152
18	53256530	T	C	18	55589299	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.034336795797095	0.058
18	53256530	T	G	18	55589299	y	y	UTR5	TCF4	.	.	UTR5	ENSG00000196628	.	.	0.034336795797095	0.06
18	53258340	T	A	18	55591109	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.06602690930623E-4	0.02
18	53258340	T	C	18	55591109	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.04434950096152E-4	0.024
18	53258340	T	G	18	55591109	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.04434950096152E-4	0.022
18	53258341	T	A	18	55591110	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.91564032431422E-5	0.0
18	53258341	T	C	18	55591110	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.67535614375061E-5	0.0
18	53258341	T	G	18	55591110	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.67535614375061E-5	0.0
18	53258342	A	C	18	55591111	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.03736096199351E-5	0.0
18	53258342	A	G	18	55591111	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.03736096199351E-5	0.0
18	53258342	A	T	18	55591111	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.03736096199351E-5	0.0
18	53258343	C	A	18	55591112	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.3994564522384E-5	0.016
18	53258343	C	G	18	55591112	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.3994564522384E-5	0.012
18	53258343	C	T	18	55591112	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.3994564522384E-5	0.014
18	53258344	T	A	18	55591113	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00124364895216856	0.02
18	53258344	T	C	18	55591113	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.0277112571666E-4	0.02
18	53258344	T	G	18	55591113	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.0277112571666E-4	0.02
18	53258345	T	A	18	55591114	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.12967705479703E-5	0.002
18	53258345	T	C	18	55591114	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.05567792764038E-5	0.004
18	53258345	T	G	18	55591114	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.05567792764038E-5	0.004
18	53258346	A	C	18	55591115	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	2.74891647094722E-5	0.03
18	53258346	A	G	18	55591115	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	2.74891647094722E-5	0.02
18	53258346	A	T	18	55591115	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	2.05567792764038E-5	0.004
18	53258347	C	A	18	55591116	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	2.45277156108894E-5	0.0
18	53258347	C	G	18	55591116	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	2.45277156108894E-5	0.0
18	53258347	C	T	18	55591116	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628	.	.	2.45277156108894E-5	0.0
18	53258348	A	C	18	55591117	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.64938821394894E-6	0.0
18	53258348	A	G	18	55591117	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	9.64938821394894E-6	0.0
18	53258348	A	T	18	55591117	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	4.17832378216079E-5	0.002
18	53258349	T	A	18	55591118	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.62965044666173E-5	0.0
18	53258349	T	C	18	55591118	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.62965044666173E-5	0.0
18	53258349	T	G	18	55591118	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	3.62965044666173E-5	0.0
18	53258350	G	A	18	55591119	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.30945796578933E-5	0.0
18	53258350	G	C	18	55591119	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	7.52881759733747E-5	0.0
18	53258350	G	T	18	55591119	n	y	intronic	TCF4	.	.	UTR5	ENSG00000196628	.	.	8.30945796578933E-5	0.0
18	53263329	T	A	18	55596098	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.57123356397867E-5	0.014
18	53263329	T	C	18	55596098	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19654958573966E-5	0.02
18	53263329	T	G	18	55596098	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19654958573966E-5	0.02
18	53263330	G	A	18	55596099	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.002
18	53263330	G	C	18	55596099	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.002
18	53263330	G	T	18	55596099	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.002
18	53263331	A	C	18	55596100	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.002
18	53263331	A	G	18	55596100	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.002
18	53263331	A	T	18	55596100	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.002
18	53263332	C	A	18	55596101	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.49453169148861E-5	0.016
18	53263332	C	G	18	55596101	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.49453169148861E-5	0.016
18	53263332	C	T	18	55596101	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.49453169148861E-5	0.016
18	53263333	T	A	18	55596102	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.07620641825897E-5	0.0
18	53263333	T	C	18	55596102	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.90792379341904E-5	0.0
18	53263333	T	G	18	55596102	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.37812133402739E-5	0.006
18	53263334	C	A	18	55596103	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.45277156108894E-5	0.0
18	53263334	C	G	18	55596103	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.45277156108894E-5	0.0
18	53263334	C	T	18	55596103	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.45277156108894E-5	0.0
18	53263335	A	C	18	55596104	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.316+2T>G;ENST00000565393:exon3:c.186+2T>G)	.	.	3.78864525412067E-5	0.0
18	53263335	A	G	18	55596104	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.316+2T>C;ENST00000565393:exon3:c.186+2T>C)	.	.	3.78864525412067E-5	0.0
18	53263335	A	T	18	55596104	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.316+2T>A;ENST00000565393:exon3:c.186+2T>A)	.	.	3.78864525412067E-5	0.0
18	53263336	C	A	18	55596105	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.316+1G>T;ENST00000565393:exon3:c.186+1G>T)	.	.	1.59660858139777E-5	0.004
18	53263336	C	G	18	55596105	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.316+1G>C;ENST00000565393:exon3:c.186+1G>C)	.	.	1.59660858139777E-5	0.004
18	53263336	C	T	18	55596105	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.316+1G>A;ENST00000565393:exon3:c.186+1G>A)	.	.	1.59660858139777E-5	0.004
18	53263337	G	A	18	55596106	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.C316T:p.R106C;	7.44782069694124E-5	0.004
18	53263337	G	C	18	55596106	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.C316G:p.R106G;	4.09774573448081E-5	0.004
18	53263337	G	T	18	55596106	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.C316A:p.R106S;	7.44782069694124E-5	0.004
18	53263338	C	A	18	55596107	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.G315T:p.R105S;	4.68952365742707E-5	0.006
18	53263338	C	G	18	55596107	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.G315C:p.R105S;	4.68952365742707E-5	0.006
18	53263338	C	T	18	55596107	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.G315A:p.R105R;	1.71037163550947E-5	0.032
18	53263339	C	A	18	55596108	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.G314T:p.R105M;	4.68952365742707E-5	0.006
18	53263339	C	G	18	55596108	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.G314C:p.R105T;	4.68952365742707E-5	0.008
18	53263339	C	T	18	55596108	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.G314A:p.R105K;	6.5908222467397E-5	0.006
18	53263456	A	C	18	55596225	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.T197G:p.M66R;	1.69884688945688E-4	0.024
18	53263456	A	G	18	55596225	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.T197C:p.M66T;	1.37213739574818E-4	0.064
18	53263456	A	T	18	55596225	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.T197A:p.M66K;	3.08739841361144E-4	0.006
18	53263457	T	A	18	55596226	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.A196T:p.M66L;	1.99153316237132E-5	0.0
18	53263457	T	C	18	55596226	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.A196G:p.M66V;	5.37812133402739E-5	0.004
18	53263457	T	G	18	55596226	n	y	intronic	TCF4	.	.	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon2:c.A196C:p.M66L;	1.89861551796331E-5	0.002
18	53263458	C	A	18	55596227	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.196-1G>T;ENST00000565393:exon3:c.66-1G>T)	.	.	7.44782069694124E-5	0.014
18	53263458	C	G	18	55596227	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.196-1G>C;ENST00000565393:exon3:c.66-1G>C)	.	.	4.09774573448081E-5	0.012
18	53263458	C	T	18	55596227	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.196-1G>A;ENST00000565393:exon3:c.66-1G>A)	.	.	7.44782069694124E-5	0.01
18	53263459	T	A	18	55596228	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.196-2A>T;ENST00000565393:exon3:c.66-2A>T)	.	.	3.08739841361144E-4	0.004
18	53263459	T	C	18	55596228	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.196-2A>G;ENST00000565393:exon3:c.66-2A>G)	.	.	3.08739841361144E-4	0.006
18	53263459	T	G	18	55596228	n	y	intronic	TCF4	.	.	splicing	ENSG00000196628(ENST00000565124:exon3:c.196-2A>C;ENST00000565393:exon3:c.66-2A>C)	.	.	3.08739841361144E-4	0.006
18	53263460	G	A	18	55596229	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.35379928190213E-5	0.0
18	53263460	G	C	18	55596229	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.35379928190213E-5	0.0
18	53263460	G	T	18	55596229	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.35379928190213E-5	0.0
18	53263461	G	A	18	55596230	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.0
18	53263461	G	C	18	55596230	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.89861551796331E-5	0.0
18	53263461	G	T	18	55596230	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.89861551796331E-5	0.01
18	53263462	A	C	18	55596231	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19654958573966E-5	0.016
18	53263462	A	G	18	55596231	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19654958573966E-5	0.016
18	53263462	A	T	18	55596231	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19654958573966E-5	0.016
18	53263463	A	C	18	55596232	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.76098174746174E-5	0.054
18	53263463	A	G	18	55596232	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.76098174746174E-5	0.048
18	53263463	A	T	18	55596232	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.04430273012958E-4	0.048
18	53263464	A	C	18	55596233	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.76098174746174E-5	0.048
18	53263464	A	G	18	55596233	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.76098174746174E-5	0.048
18	53263464	A	T	18	55596233	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.04430273012958E-4	0.062
18	53263465	A	C	18	55596234	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.0
18	53263465	A	G	18	55596234	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.0
18	53263465	A	T	18	55596234	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.99153316237132E-5	0.0
18	53263466	A	C	18	55596235	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.47851835030072E-4	0.054
18	53263466	A	G	18	55596235	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.47851835030072E-4	0.056
18	53263466	A	T	18	55596235	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.47851835030072E-4	0.064
18	53263467	A	C	18	55596236	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.71495267734267E-6	0.002
18	53263467	A	G	18	55596236	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.71495267734267E-6	0.002
18	53263467	A	T	18	55596236	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.18378891799259E-5	0.008
18	53263468	A	C	18	55596237	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.71495267734267E-6	0.002
18	53263468	A	G	18	55596237	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.71495267734267E-6	0.002
18	53263468	A	T	18	55596237	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.0482661884663E-5	0.004
18	53263469	T	A	18	55596238	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.38294415292276E-5	0.002
18	53263469	T	C	18	55596238	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.38294415292276E-5	0.002
18	53263469	T	G	18	55596238	n	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.38294415292276E-5	0.002
18	53298521	C	A	18	55631290	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.42575568175034E-5	0.01
18	53298521	C	G	18	55631290	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.19201064358734E-5	0.018
18	53298521	C	T	18	55631290	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.42575568175034E-5	0.01
18	53298522	C	A	18	55631291	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.60126745312983E-5	0.032
18	53298522	C	G	18	55631291	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.40678526486925E-5	0.018
18	53298522	C	T	18	55631291	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.806817504233E-5	0.014
18	53298523	A	C	18	55631292	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.02734352258703E-4	0.188
18	53298523	A	G	18	55631292	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.75762349539667E-4	0.218
18	53298523	A	T	18	55631292	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00120160717485793	0.216
18	53298524	C	A	18	55631293	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.952964284395308	0.454
18	53298524	C	G	18	55631293	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.941447305625857	0.55
18	53298524	C	T	18	55631293	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.897727847489618	0.42
18	53298525	C	A	18	55631294	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	7.98255727259868E-5	0.044
18	53298525	C	G	18	55631294	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.75336573500188E-5	0.058
18	53298525	C	T	18	55631294	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.07276030966093E-4	0.148
18	53298526	T	A	18	55631295	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0113584835686495	0.208
18	53298526	T	C	18	55631295	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.929889137696E-4	0.084
18	53298526	T	G	18	55631295	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.218802654685678	0.262
18	53298527	A	C	18	55631296	y	y	splicing	TCF4(NM_001243226:exon3:c.286+2T>G)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.286+2T>G;ENST00000565393:exon2:c.65+2T>G)	.	.	0.999956910803912	0.628
18	53298527	A	G	18	55631296	y	y	splicing	TCF4(NM_001243226:exon3:c.286+2T>C)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.286+2T>C;ENST00000565393:exon2:c.65+2T>C)	.	.	0.744261332115198	0.544
18	53298527	A	T	18	55631296	y	y	splicing	TCF4(NM_001243226:exon3:c.286+2T>A)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.286+2T>A;ENST00000565393:exon2:c.65+2T>A)	.	.	0.999980535492709	0.632
18	53298528	C	A	18	55631297	y	y	splicing	TCF4(NM_001243226:exon3:c.286+1G>T)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.286+1G>T;ENST00000565393:exon2:c.65+1G>T)	.	.	0.994818629483213	0.358
18	53298528	C	G	18	55631297	y	y	splicing	TCF4(NM_001243226:exon3:c.286+1G>C)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.286+1G>C;ENST00000565393:exon2:c.65+1G>C)	.	.	0.994818629483213	0.318
18	53298528	C	T	18	55631297	y	y	splicing	TCF4(NM_001243226:exon3:c.286+1G>A)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.286+1G>A;ENST00000565393:exon2:c.65+1G>A)	.	.	0.994818629483213	0.364
18	53298529	C	A	18	55631298	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.G286T:p.G96C;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.G286T:p.G96C;	0.998758591870478	0.862
18	53298529	C	G	18	55631298	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.G286C:p.G96R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.G286C:p.G96R;	0.999468324137465	0.748
18	53298529	C	T	18	55631298	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.G286A:p.G96S;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.G286A:p.G96S;	0.994057143454778	0.854
18	53298530	T	A	18	55631299	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.A285T:p.Q95H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A285T:p.Q95H;	0.381610925617715	0.652
18	53298530	T	C	18	55631299	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243226:exon2:c.A285G:p.Q95Q;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A285G:p.Q95Q;	0.917162860258823	0.694
18	53298530	T	G	18	55631299	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.A285C:p.Q95H;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A285C:p.Q95H;	0.0656176058553803	0.66
18	53298531	T	A	18	55631300	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.A284T:p.Q95L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A284T:p.Q95L;	0.0491179269023747	0.416
18	53298531	T	C	18	55631300	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.A284G:p.Q95R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A284G:p.Q95R;	2.08264126432933E-4	0.008
18	53298531	T	G	18	55631300	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.A284C:p.Q95P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A284C:p.Q95P;	1.46870711774318E-4	0.004
18	53298618	T	A	18	55631387	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.A197T:p.Q66L;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A197T:p.Q66L;	1.27320493180622E-5	0.006
18	53298618	T	C	18	55631387	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.A197G:p.Q66R;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A197G:p.Q66R;	8.08508402205252E-5	0.126
18	53298618	T	G	18	55631387	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.A197C:p.Q66P;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.A197C:p.Q66P;	3.62836721478599E-5	0.0
18	53298619	G	A	18	55631388	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243226:exon2:c.C196T:p.Q66X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000398339:exon2:c.C196T:p.Q66X;	4.36538199555693E-4	0.186
18	53298619	G	C	18	55631388	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.C196G:p.Q66E;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.C196G:p.Q66E;	7.38611034554241E-5	0.124
18	53298619	G	T	18	55631388	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon2:c.C196A:p.Q66K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000398339:exon2:c.C196A:p.Q66K;	4.64108124954588E-5	0.0
18	53298620	C	A	18	55631389	y	y	splicing	TCF4(NM_001243226:exon3:c.196-1G>T)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.196-1G>T)	.	.	0.999868566252502	0.578
18	53298620	C	G	18	55631389	y	y	splicing	TCF4(NM_001243226:exon3:c.196-1G>C)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.196-1G>C)	.	.	0.999868566252502	0.584
18	53298620	C	T	18	55631389	y	y	splicing	TCF4(NM_001243226:exon3:c.196-1G>A)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.196-1G>A)	.	.	0.999868566252502	0.566
18	53298621	T	A	18	55631390	y	y	splicing	TCF4(NM_001243226:exon3:c.196-2A>T)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.196-2A>T)	.	.	0.994818629483213	0.288
18	53298621	T	C	18	55631390	y	y	splicing	TCF4(NM_001243226:exon3:c.196-2A>G)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.196-2A>G)	.	.	0.994818629483213	0.29
18	53298621	T	G	18	55631390	y	y	splicing	TCF4(NM_001243226:exon3:c.196-2A>C)	.	.	splicing	ENSG00000196628(ENST00000398339:exon3:c.196-2A>C)	.	.	0.994818629483213	0.286
18	53298622	G	A	18	55631391	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	4.18799735814771E-4	0.174
18	53298622	G	C	18	55631391	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999349055955137	0.894
18	53298622	G	T	18	55631391	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.754586178530758	0.684
18	53298623	C	A	18	55631392	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.52892313773816E-4	0.09
18	53298623	C	G	18	55631392	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.42870362719746E-5	0.002
18	53298623	C	T	18	55631392	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.05618242664236E-5	0.0
18	53298624	A	C	18	55631393	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.103032595798105	0.388
18	53298624	A	G	18	55631393	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.60571601176959E-4	0.092
18	53298624	A	T	18	55631393	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999822128138049	0.934
18	53298625	G	A	18	55631394	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.03385507208493E-4	0.008
18	53298625	G	C	18	55631394	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00129915561005941	0.194
18	53298625	G	T	18	55631394	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.0012520938647765	0.226
18	53298626	G	A	18	55631395	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.36444863386529E-5	0.016
18	53298626	G	C	18	55631395	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00218478364306541	0.064
18	53298626	G	T	18	55631395	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.251907308924E-4	0.034
18	53298627	G	A	18	55631396	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.79714553314544E-5	0.0
18	53298627	G	C	18	55631396	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999556382799556	0.926
18	53298627	G	T	18	55631396	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.63114157649206E-4	0.146
18	53298628	T	A	18	55631397	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	9.37200613050491E-6	0.0
18	53298628	T	C	18	55631397	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.66607836849702E-5	0.0
18	53298628	T	G	18	55631397	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.97098348654112E-6	0.0
18	53298629	G	A	18	55631398	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.57064591129281E-4	0.0
18	53298629	G	C	18	55631398	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00363134314474379	0.068
18	53298629	G	T	18	55631398	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00302902047290706	0.092
18	53298630	G	A	18	55631399	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.1419288956466E-5	0.0
18	53298630	G	C	18	55631399	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	1.89357002413383E-4	0.076
18	53298630	G	T	18	55631399	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.04528986394291E-4	0.086
18	53298631	A	C	18	55631400	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00360729948623333	0.124
18	53298631	A	G	18	55631400	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.72510787655405E-4	0.042
18	53298631	A	T	18	55631400	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.004627744194955	0.204
18	53302926	G	A	18	55635695	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.66126627205396E-5	0.0
18	53302926	G	C	18	55635695	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.06201435209949E-5	0.0
18	53302926	G	T	18	55635695	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.95940901121338E-5	0.004
18	53302927	T	A	18	55635696	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.66910018093455E-5	0.0
18	53302927	T	C	18	55635696	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	6.48593396110232E-5	0.004
18	53302927	T	G	18	55635696	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.64182404500159E-5	0.006
18	53302928	T	A	18	55635697	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00134715809529914	0.016
18	53302928	T	C	18	55635697	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00134908358395367	0.008
18	53302928	T	G	18	55635697	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.00633216815925818	0.096
18	53302929	C	A	18	55635698	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.999218144736295	0.716
18	53302929	C	G	18	55635698	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.997544341871681	0.734
18	53302929	C	T	18	55635698	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.992696776094681	0.682
18	53302930	C	A	18	55635699	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	3.57556199006616E-5	0.0
18	53302930	C	G	18	55635699	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	2.90319140418186E-5	0.002
18	53302930	C	T	18	55635699	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	5.07731074658645E-5	0.034
18	53302931	T	A	18	55635700	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.995138731605409	0.878
18	53302931	T	C	18	55635700	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.957230791182378	0.614
18	53302931	T	G	18	55635700	y	y	intronic	TCF4	.	.	intronic	ENSG00000196628	.	.	0.997571214905151	0.87
18	53302932	A	C	18	55635701	y	y	splicing	TCF4(NM_001243226:exon2:c.195+2T>G)	.	.	splicing	ENSG00000196628(ENST00000398339:exon2:c.195+2T>G;ENST00000565124:exon2:c.195+2T>G)	.	.	0.999968624618023	0.73
18	53302932	A	G	18	55635701	y	y	splicing	TCF4(NM_001243226:exon2:c.195+2T>C)	.	.	splicing	ENSG00000196628(ENST00000398339:exon2:c.195+2T>C;ENST00000565124:exon2:c.195+2T>C)	.	.	0.920635501422871	0.526
18	53302932	A	T	18	55635701	y	y	splicing	TCF4(NM_001243226:exon2:c.195+2T>A)	.	.	splicing	ENSG00000196628(ENST00000398339:exon2:c.195+2T>A;ENST00000565124:exon2:c.195+2T>A)	.	.	0.999968624618023	0.736
18	53302933	C	A	18	55635702	y	y	splicing	TCF4(NM_001243226:exon2:c.195+1G>T)	.	.	splicing	ENSG00000196628(ENST00000398339:exon2:c.195+1G>T;ENST00000565124:exon2:c.195+1G>T)	.	.	0.999923275628443	0.6
18	53302933	C	G	18	55635702	y	y	splicing	TCF4(NM_001243226:exon2:c.195+1G>C)	.	.	splicing	ENSG00000196628(ENST00000398339:exon2:c.195+1G>C;ENST00000565124:exon2:c.195+1G>C)	.	.	0.999923275628443	0.558
18	53302933	C	T	18	55635702	y	y	splicing	TCF4(NM_001243226:exon2:c.195+1G>A)	.	.	splicing	ENSG00000196628(ENST00000398339:exon2:c.195+1G>A;ENST00000565124:exon2:c.195+1G>A)	.	.	0.999923275628443	0.638
18	53302934	C	A	18	55635703	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon1:c.G195T:p.E65D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon1:c.G195T:p.E65D;ENSG00000196628:ENST00000398339:exon1:c.G195T:p.E65D;	0.99959049870269	0.956
18	53302934	C	G	18	55635703	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon1:c.G195C:p.E65D;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon1:c.G195C:p.E65D;ENSG00000196628:ENST00000398339:exon1:c.G195C:p.E65D;	0.999449406184691	0.944
18	53302934	C	T	18	55635703	y	y	exonic	TCF4	synonymous SNV	TCF4:NM_001243226:exon1:c.G195A:p.E65E;	exonic	ENSG00000196628	synonymous SNV	ENSG00000196628:ENST00000565124:exon1:c.G195A:p.E65E;ENSG00000196628:ENST00000398339:exon1:c.G195A:p.E65E;	0.995283026349799	0.958
18	53302935	T	A	18	55635704	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon1:c.A194T:p.E65V;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon1:c.A194T:p.E65V;ENSG00000196628:ENST00000398339:exon1:c.A194T:p.E65V;	0.993174843779593	0.776
18	53302935	T	C	18	55635704	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon1:c.A194G:p.E65G;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon1:c.A194G:p.E65G;ENSG00000196628:ENST00000398339:exon1:c.A194G:p.E65G;	0.992950228802066	0.816
18	53302935	T	G	18	55635704	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon1:c.A194C:p.E65A;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon1:c.A194C:p.E65A;ENSG00000196628:ENST00000398339:exon1:c.A194C:p.E65A;	0.629539064425811	0.626
18	53302936	C	A	18	55635705	y	y	exonic	TCF4	stopgain SNV	TCF4:NM_001243226:exon1:c.G193T:p.E65X;	exonic	ENSG00000196628	stopgain SNV	ENSG00000196628:ENST00000565124:exon1:c.G193T:p.E65X;ENSG00000196628:ENST00000398339:exon1:c.G193T:p.E65X;	6.45318122786805E-4	0.186
18	53302936	C	G	18	55635705	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon1:c.G193C:p.E65Q;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon1:c.G193C:p.E65Q;ENSG00000196628:ENST00000398339:exon1:c.G193C:p.E65Q;	6.3996250573463E-5	0.018
18	53302936	C	T	18	55635705	y	y	exonic	TCF4	nonsynonymous SNV	TCF4:NM_001243226:exon1:c.G193A:p.E65K;	exonic	ENSG00000196628	nonsynonymous SNV	ENSG00000196628:ENST00000565124:exon1:c.G193A:p.E65K;ENSG00000196628:ENST00000398339:exon1:c.G193A:p.E65K;	4.58686156571544E-5	0.0
18	54270286	A	C	18	56603055	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon8:c.T842G:p.V281G;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon10:c.T842G:p.V281G;ENSG00000091164:ENST00000540155:exon10:c.T473G:p.V158G;ENSG00000091164:ENST00000217515:exon8:c.T842G:p.V281G;	0.258393353144669	0.586
18	54270286	A	G	18	56603055	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon8:c.T842C:p.V281A;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon10:c.T842C:p.V281A;ENSG00000091164:ENST00000540155:exon10:c.T473C:p.V158A;ENSG00000091164:ENST00000217515:exon8:c.T842C:p.V281A;	0.231353113803601	0.564
18	54270286	A	T	18	56603055	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon8:c.T842A:p.V281E;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon10:c.T842A:p.V281E;ENSG00000091164:ENST00000540155:exon10:c.T473A:p.V158E;ENSG00000091164:ENST00000217515:exon8:c.T842A:p.V281E;	0.212712666589047	0.566
18	54270287	C	A	18	56603056	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon8:c.G841T:p.V281L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon10:c.G841T:p.V281L;ENSG00000091164:ENST00000540155:exon10:c.G472T:p.V158L;ENSG00000091164:ENST00000217515:exon8:c.G841T:p.V281L;	0.999015961593574	0.826
18	54270287	C	G	18	56603056	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon8:c.G841C:p.V281L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon10:c.G841C:p.V281L;ENSG00000091164:ENST00000540155:exon10:c.G472C:p.V158L;ENSG00000091164:ENST00000217515:exon8:c.G841C:p.V281L;	0.998909703450259	0.832
18	54270287	C	T	18	56603056	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon8:c.G841A:p.V281I;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon10:c.G841A:p.V281I;ENSG00000091164:ENST00000540155:exon10:c.G472A:p.V158I;ENSG00000091164:ENST00000217515:exon8:c.G841A:p.V281I;	0.998754930147054	0.76
18	54270288	C	A	18	56603057	y	y	splicing	TXNL1(NM_004786:exon9:c.841-1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon9:c.841-1G>T;ENST00000590954:exon11:c.841-1G>T;ENST00000540155:exon11:c.472-1G>T;ENST00000587807:exon11:c.946-1G>T;ENST00000589931:exon6:c.308-1G>T)	.	.	0.999981760802075	0.936
18	54270288	C	G	18	56603057	y	y	splicing	TXNL1(NM_004786:exon9:c.841-1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon9:c.841-1G>C;ENST00000590954:exon11:c.841-1G>C;ENST00000540155:exon11:c.472-1G>C;ENST00000587807:exon11:c.946-1G>C;ENST00000589931:exon6:c.308-1G>C)	.	.	0.999981760802075	0.936
18	54270288	C	T	18	56603057	y	y	splicing	TXNL1(NM_004786:exon9:c.841-1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon9:c.841-1G>A;ENST00000590954:exon11:c.841-1G>A;ENST00000540155:exon11:c.472-1G>A;ENST00000587807:exon11:c.946-1G>A;ENST00000589931:exon6:c.308-1G>A)	.	.	0.999981760802075	0.938
18	54270289	T	A	18	56603058	y	y	splicing	TXNL1(NM_004786:exon9:c.841-2A>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon9:c.841-2A>T;ENST00000590954:exon11:c.841-2A>T;ENST00000540155:exon11:c.472-2A>T;ENST00000587807:exon11:c.946-2A>T;ENST00000589931:exon6:c.308-2A>T)	.	.	0.999989917668626	0.926
18	54270289	T	C	18	56603058	y	y	splicing	TXNL1(NM_004786:exon9:c.841-2A>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon9:c.841-2A>G;ENST00000590954:exon11:c.841-2A>G;ENST00000540155:exon11:c.472-2A>G;ENST00000587807:exon11:c.946-2A>G;ENST00000589931:exon6:c.308-2A>G)	.	.	0.999989917668626	0.926
18	54270289	T	G	18	56603058	y	y	splicing	TXNL1(NM_004786:exon9:c.841-2A>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon9:c.841-2A>C;ENST00000590954:exon11:c.841-2A>C;ENST00000540155:exon11:c.472-2A>C;ENST00000587807:exon11:c.946-2A>C;ENST00000589931:exon6:c.308-2A>C)	.	.	0.999989917668626	0.926
18	54270290	A	C	18	56603059	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.995523517996322	0.634
18	54270290	A	G	18	56603059	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.65236318545612E-4	0.016
18	54270290	A	T	18	56603059	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0128034471017317	0.158
18	54270291	G	A	18	56603060	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00628740454281165	0.04
18	54270291	G	C	18	56603060	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0142137482449844	0.072
18	54270291	G	T	18	56603060	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00687036660819373	0.05
18	54270292	A	C	18	56603061	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00196142868107407	0.2
18	54270292	A	G	18	56603061	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0010020576144906	0.034
18	54270292	A	T	18	56603061	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	9.49148260771514E-4	0.184
18	54270293	A	C	18	56603062	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0359468742649447	0.268
18	54270293	A	G	18	56603062	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00320493666113815	0.046
18	54270293	A	T	18	56603062	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0226619863600465	0.232
18	54270294	A	C	18	56603063	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.20885047513038E-4	0.016
18	54270294	A	G	18	56603063	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.57985095912168E-5	0.002
18	54270294	A	T	18	56603063	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.76885383256954E-4	0.124
18	54270295	A	C	18	56603064	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.88209791345112E-5	0.02
18	54270295	A	G	18	56603064	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.4364691144507E-5	0.006
18	54270295	A	T	18	56603064	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.18494311278119E-4	0.018
18	54270296	A	C	18	56603065	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	9.54153494398487E-4	0.146
18	54270296	A	G	18	56603065	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.04136323357163E-4	0.038
18	54270296	A	T	18	56603065	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	9.5366238375514E-4	0.13
18	54270297	C	A	18	56603066	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.22162061057953E-4	0.012
18	54270297	C	G	18	56603066	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.73522510385906E-4	0.012
18	54270297	C	T	18	56603066	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00135250019423291	0.084
18	54270298	A	C	18	56603067	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.92049232464885E-4	0.134
18	54270298	A	G	18	56603067	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.21203421912367E-4	0.018
18	54270298	A	T	18	56603067	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.992576389037176	0.86
18	54270299	A	C	18	56603068	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0206045218769157	0.274
18	54270299	A	G	18	56603068	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0087613621466321	0.062
18	54270299	A	T	18	56603068	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0178949731172565	0.292
18	54271659	C	A	18	56604428	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.87
18	54271659	C	G	18	56604428	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.87
18	54271659	C	T	18	56604428	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.868
18	54271660	T	A	18	56604429	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.777257885594377	0.656
18	54271660	T	C	18	56604429	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.777774320792132	0.652
18	54271660	T	G	18	56604429	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.777774320792132	0.654
18	54271661	G	A	18	56604430	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.868
18	54271661	G	C	18	56604430	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.87
18	54271661	G	T	18	56604430	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.87
18	54271662	C	A	18	56604431	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.87
18	54271662	C	G	18	56604431	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.87
18	54271662	C	T	18	56604431	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993383568605494	0.868
18	54271663	A	C	18	56604432	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.826586052674101	0.704
18	54271663	A	G	18	56604432	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.826586052674101	0.704
18	54271663	A	T	18	56604432	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.824245934594111	0.73
18	54271664	T	A	18	56604433	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.824245934594111	0.732
18	54271664	T	C	18	56604433	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.826586052674101	0.704
18	54271664	T	G	18	56604433	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.826586052674101	0.706
18	54271665	A	C	18	56604434	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.307+2T>G)	.	.	0.826586052674101	0.71
18	54271665	A	G	18	56604434	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.307+2T>C)	.	.	0.826586052674101	0.704
18	54271665	A	T	18	56604434	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.307+2T>A)	.	.	0.824245934594111	0.732
18	54271666	C	A	18	56604435	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.307+1G>T)	.	.	0.992844853960042	0.86
18	54271666	C	G	18	56604435	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.307+1G>C)	.	.	0.992844853960042	0.858
18	54271666	C	T	18	56604435	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.307+1G>A)	.	.	0.994751797357394	0.884
18	54271667	T	A	18	56604436	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.851858316926794	0.702
18	54271667	T	C	18	56604436	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.777257885594377	0.65
18	54271667	T	G	18	56604436	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.777257885594377	0.65
18	54271668	G	A	18	56604437	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0121674869362074	0.186
18	54271668	G	C	18	56604437	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0121674869362074	0.212
18	54271668	G	T	18	56604437	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0121674869362074	0.212
18	54271669	T	A	18	56604438	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0394358151388932	0.186
18	54271669	T	C	18	56604438	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0394358151388932	0.184
18	54271669	T	G	18	56604438	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0394358151388932	0.184
18	54271708	T	A	18	56604477	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0123145190451646	0.17
18	54271708	T	C	18	56604477	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0123145190451646	0.198
18	54271708	T	G	18	56604477	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.0123145190451646	0.198
18	54271709	T	A	18	56604478	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.853960545699374	0.736
18	54271709	T	C	18	56604478	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.853960545699374	0.732
18	54271709	T	G	18	56604478	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.853960545699374	0.728
18	54271710	C	A	18	56604479	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.265-1G>T)	.	.	0.984819767516907	0.846
18	54271710	C	G	18	56604479	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.265-1G>C)	.	.	0.984819767516907	0.848
18	54271710	C	T	18	56604479	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.265-1G>A)	.	.	0.990732749759693	0.868
18	54271711	T	A	18	56604480	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.265-2A>T)	.	.	0.853960545699374	0.736
18	54271711	T	C	18	56604480	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.265-2A>G)	.	.	0.853960545699374	0.728
18	54271711	T	G	18	56604480	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon5:c.265-2A>C)	.	.	0.853960545699374	0.726
18	54271712	G	A	18	56604481	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.990732749759693	0.862
18	54271712	G	C	18	56604481	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.984819767516907	0.848
18	54271712	G	T	18	56604481	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.984819767516907	0.844
18	54271713	T	A	18	56604482	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.27475063556534E-4	0.158
18	54271713	T	C	18	56604482	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.27475063556534E-4	0.146
18	54271713	T	G	18	56604482	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.27475063556534E-4	0.146
18	54271714	A	C	18	56604483	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.810635252989339	0.668
18	54271714	A	G	18	56604483	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.810635252989339	0.67
18	54271714	A	T	18	56604483	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.875842648430392	0.694
18	54271715	A	C	18	56604484	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.726
18	54271715	A	G	18	56604484	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.73
18	54271715	A	T	18	56604484	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.736
18	54271716	A	C	18	56604485	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.716
18	54271716	A	G	18	56604485	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.728
18	54271716	A	T	18	56604485	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.8519236545887	0.736
18	54271717	A	C	18	56604486	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.728
18	54271717	A	G	18	56604486	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.73
18	54271717	A	T	18	56604486	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.736
18	54271718	A	C	18	56604487	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.73
18	54271718	A	G	18	56604487	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.73
18	54271718	A	T	18	56604487	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.722
18	54271719	A	C	18	56604488	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.73
18	54271719	A	G	18	56604488	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.726
18	54271719	A	T	18	56604488	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.853960545699374	0.72
18	54271720	G	A	18	56604489	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.120043138059885	0.366
18	54271720	G	C	18	56604489	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0942283792138948	0.332
18	54271720	G	T	18	56604489	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.104058312613407	0.352
18	54271721	A	C	18	56604490	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.039322880240544	0.188
18	54271721	A	G	18	56604490	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.039322880240544	0.188
18	54271721	A	T	18	56604490	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0631897724295045	0.2
18	54272405	G	A	18	56605174	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.989907233509753	0.752
18	54272405	G	C	18	56605174	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.991619407935017	0.738
18	54272405	G	T	18	56605174	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.989907233509753	0.748
18	54272406	A	C	18	56605175	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.787707925319374	0.642
18	54272406	A	G	18	56605175	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.787707925319374	0.64
18	54272406	A	T	18	56605175	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.787208259227816	0.64
18	54272407	G	A	18	56605176	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.406876270742368	0.522
18	54272407	G	C	18	56605176	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.406876270742368	0.544
18	54272407	G	T	18	56605176	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.406876270742368	0.524
18	54272408	G	A	18	56605177	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.989907233509753	0.752
18	54272408	G	C	18	56605177	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.991619407935017	0.738
18	54272408	G	T	18	56605177	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.989907233509753	0.748
18	54272409	A	C	18	56605178	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.44179690656145E-4	0.008
18	54272409	A	G	18	56605178	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.44179690656145E-4	0.02
18	54272409	A	T	18	56605178	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.22284628794593E-4	0.016
18	54272410	A	C	18	56605179	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0517906223079821	0.164
18	54272410	A	G	18	56605179	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0517906223079821	0.162
18	54272410	A	T	18	56605179	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0579370398021417	0.226
18	54272411	A	C	18	56605180	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.264+2T>G)	.	.	0.00246951062688554	0.064
18	54272411	A	G	18	56605180	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.264+2T>C)	.	.	0.00246951062688554	0.064
18	54272411	A	T	18	56605180	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.264+2T>A)	.	.	2.03636003644565E-4	0.032
18	54272412	C	A	18	56605181	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.264+1G>T)	.	.	6.79221894364953E-5	0.002
18	54272412	C	G	18	56605181	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.264+1G>C)	.	.	6.79221894364953E-5	0.002
18	54272412	C	T	18	56605181	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.264+1G>A)	.	.	6.79221894364953E-5	0.002
18	54272413	C	A	18	56605182	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.19298500941308E-4	0.038
18	54272413	C	G	18	56605182	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	7.76002253009871E-5	0.002
18	54272413	C	T	18	56605182	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.19298500941308E-4	0.048
18	54272414	T	A	18	56605183	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.54768177649565E-4	0.0
18	54272414	T	C	18	56605183	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.5594952957678E-4	0.0
18	54272414	T	G	18	56605183	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.5594952957678E-4	0.0
18	54272415	A	C	18	56605184	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.738873208922716	0.638
18	54272415	A	G	18	56605184	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.738873208922716	0.632
18	54272415	A	T	18	56605184	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.787707925319374	0.658
18	54272502	T	A	18	56605271	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.00145840822377512	0.186
18	54272502	T	C	18	56605271	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.00106808934384104	0.174
18	54272502	T	G	18	56605271	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.00106808934384104	0.176
18	54272503	G	A	18	56605272	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.982099314936229	0.776
18	54272503	G	C	18	56605272	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.982382581050149	0.756
18	54272503	G	T	18	56605272	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.982099314936229	0.766
18	54272504	C	A	18	56605273	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.174-1G>T)	.	.	0.0138735676626848	0.194
18	54272504	C	G	18	56605273	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.174-1G>C)	.	.	0.0138735676626848	0.19
18	54272504	C	T	18	56605273	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.174-1G>A)	.	.	0.0226583998256664	0.208
18	54272505	T	A	18	56605274	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.174-2A>T)	.	.	1.67746997117605E-4	0.132
18	54272505	T	C	18	56605274	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.174-2A>G)	.	.	1.67746997117605E-4	0.158
18	54272505	T	G	18	56605274	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000589931:exon4:c.174-2A>C)	.	.	1.67746997117605E-4	0.138
18	54272506	A	C	18	56605275	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.796376809981311	0.752
18	54272506	A	G	18	56605275	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.796376809981311	0.752
18	54272506	A	T	18	56605275	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.826477743758106	0.758
18	54272507	G	A	18	56605276	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.982099314936229	0.77
18	54272507	G	C	18	56605276	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.982382581050149	0.754
18	54272507	G	T	18	56605276	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.982382581050149	0.766
18	54272508	A	C	18	56605277	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.61316306621255E-4	0.102
18	54272508	A	G	18	56605277	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.61316306621255E-4	0.102
18	54272508	A	T	18	56605277	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00103964578286021	0.11
18	54272509	T	A	18	56605278	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00145840822377512	0.196
18	54272509	T	C	18	56605278	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00175887286387201	0.186
18	54272509	T	G	18	56605278	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00175887286387201	0.186
18	54272510	G	A	18	56605279	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.982099314936229	0.762
18	54272510	G	C	18	56605279	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.982382581050149	0.742
18	54272510	G	T	18	56605279	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.982382581050149	0.748
18	54272511	A	C	18	56605280	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0772839218062099	0.204
18	54272511	A	G	18	56605280	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0772839218062099	0.204
18	54272511	A	T	18	56605280	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0772839218062099	0.23
18	54272512	G	A	18	56605281	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.138162618327709	0.418
18	54272512	G	C	18	56605281	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.162056360350398	0.428
18	54272512	G	T	18	56605281	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.138162618327709	0.43
18	54272513	C	A	18	56605282	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0138735676626848	0.19
18	54272513	C	G	18	56605282	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0138735676626848	0.19
18	54272513	C	T	18	56605282	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0226583998256664	0.198
18	54272514	A	C	18	56605283	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.08908316865011E-4	0.166
18	54272514	A	G	18	56605283	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.08908316865011E-4	0.166
18	54272514	A	T	18	56605283	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.41432352421948E-4	0.158
18	54272515	G	A	18	56605284	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.138162618327709	0.42
18	54272515	G	C	18	56605284	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.162056360350398	0.426
18	54272515	G	T	18	56605284	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.138162618327709	0.424
18	54278216	A	C	18	56610985	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	5.50570317512025E-5	0.0
18	54278216	A	G	18	56610985	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.00231395882228E-4	0.002
18	54278216	A	T	18	56610985	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	5.50570317512025E-5	0.002
18	54278217	A	C	18	56610986	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.05425346636526E-4	0.006
18	54278217	A	G	18	56610986	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.05425346636526E-4	0.002
18	54278217	A	T	18	56610986	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	1.81414582544271E-4	0.016
18	54278218	A	C	18	56610987	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.989763448209406	0.854
18	54278218	A	G	18	56610987	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.987457167441385	0.82
18	54278218	A	T	18	56610987	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.992082361097537	0.768
18	54278219	C	A	18	56610988	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.999983902430721	0.9
18	54278219	C	G	18	56610988	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.999980244753957	0.98
18	54278219	C	T	18	56610988	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.99997968265831	0.994
18	54278220	T	A	18	56610989	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.985031781817496	0.748
18	54278220	T	C	18	56610989	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.994312544819758	0.824
18	54278220	T	G	18	56610989	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.971440473795832	0.75
18	54278221	T	A	18	56610990	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.999623148015022	0.966
18	54278221	T	C	18	56610990	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.859817867991496	0.532
18	54278221	T	G	18	56610990	y	n	intronic	TXNL1	.	.	exonic	ENSG00000091164	unknown	UNKNOWN	0.999744172303368	0.964
18	54278222	A	C	18	56610991	y	n	splicing	TXNL1(NM_004786:exon8:c.840+2T>G)	.	.	exonic;splicing	ENSG00000091164;ENSG00000091164(ENST00000217515:exon8:c.840+2T>G;ENST00000590954:exon10:c.840+2T>G;ENST00000540155:exon10:c.471+2T>G;ENST00000587807:exon10:c.945+2T>G;ENST00000589931:exon3:c.173+2T>G)	unknown	UNKNOWN	0.999988247793601	0.93
18	54278222	A	G	18	56610991	y	n	splicing	TXNL1(NM_004786:exon8:c.840+2T>C)	.	.	exonic;splicing	ENSG00000091164;ENSG00000091164(ENST00000217515:exon8:c.840+2T>C;ENST00000590954:exon10:c.840+2T>C;ENST00000540155:exon10:c.471+2T>C;ENST00000587807:exon10:c.945+2T>C;ENST00000589931:exon3:c.173+2T>C)	unknown	UNKNOWN	0.992577803696025	0.682
18	54278222	A	T	18	56610991	y	n	splicing	TXNL1(NM_004786:exon8:c.840+2T>A)	.	.	exonic;splicing	ENSG00000091164;ENSG00000091164(ENST00000217515:exon8:c.840+2T>A;ENST00000590954:exon10:c.840+2T>A;ENST00000540155:exon10:c.471+2T>A;ENST00000587807:exon10:c.945+2T>A;ENST00000589931:exon3:c.173+2T>A)	unknown	UNKNOWN	0.999988247793601	0.93
18	54278223	C	A	18	56610992	y	n	splicing	TXNL1(NM_004786:exon8:c.840+1G>T)	.	.	exonic;splicing	ENSG00000091164;ENSG00000091164(ENST00000217515:exon8:c.840+1G>T;ENST00000590954:exon10:c.840+1G>T;ENST00000540155:exon10:c.471+1G>T;ENST00000587807:exon10:c.945+1G>T;ENST00000589931:exon3:c.173+1G>T)	unknown	UNKNOWN	0.999985532734767	0.938
18	54278223	C	G	18	56610992	y	n	splicing	TXNL1(NM_004786:exon8:c.840+1G>C)	.	.	exonic;splicing	ENSG00000091164;ENSG00000091164(ENST00000217515:exon8:c.840+1G>C;ENST00000590954:exon10:c.840+1G>C;ENST00000540155:exon10:c.471+1G>C;ENST00000587807:exon10:c.945+1G>C;ENST00000589931:exon3:c.173+1G>C)	unknown	UNKNOWN	0.999985532734767	0.938
18	54278223	C	T	18	56610992	y	n	splicing	TXNL1(NM_004786:exon8:c.840+1G>A)	.	.	exonic;splicing	ENSG00000091164;ENSG00000091164(ENST00000217515:exon8:c.840+1G>A;ENST00000590954:exon10:c.840+1G>A;ENST00000540155:exon10:c.471+1G>A;ENST00000587807:exon10:c.945+1G>A;ENST00000589931:exon3:c.173+1G>A)	unknown	UNKNOWN	0.999985532734767	0.938
18	54278224	T	A	18	56610993	y	n	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon7:c.A840T:p.R280R;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.A840T:p.R280R;ENSG00000091164:ENST00000540155:exon9:c.A471T:p.R157R;ENSG00000091164:ENST00000217515:exon7:c.A840T:p.R280R;	0.203226765583079	0.468
18	54278224	T	C	18	56610993	y	n	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon7:c.A840G:p.R280R;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.A840G:p.R280R;ENSG00000091164:ENST00000540155:exon9:c.A471G:p.R157R;ENSG00000091164:ENST00000217515:exon7:c.A840G:p.R280R;	0.0030713855416561	0.062
18	54278224	T	G	18	56610993	y	n	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon7:c.A840C:p.R280R;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.A840C:p.R280R;ENSG00000091164:ENST00000540155:exon9:c.A471C:p.R157R;ENSG00000091164:ENST00000217515:exon7:c.A840C:p.R280R;	0.175023302462033	0.354
18	54278225	C	A	18	56610994	y	n	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.G839T:p.R280L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.G839T:p.R280L;ENSG00000091164:ENST00000540155:exon9:c.G470T:p.R157L;ENSG00000091164:ENST00000217515:exon7:c.G839T:p.R280L;	0.483089533930178	0.522
18	54278225	C	G	18	56610994	y	n	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.G839C:p.R280P;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.G839C:p.R280P;ENSG00000091164:ENST00000540155:exon9:c.G470C:p.R157P;ENSG00000091164:ENST00000217515:exon7:c.G839C:p.R280P;	0.461619650240204	0.504
18	54278225	C	T	18	56610994	y	n	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.G839A:p.R280Q;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.G839A:p.R280Q;ENSG00000091164:ENST00000540155:exon9:c.G470A:p.R157Q;ENSG00000091164:ENST00000217515:exon7:c.G839A:p.R280Q;	0.457911996070114	0.514
18	54278226	G	A	18	56610995	y	n	exonic	TXNL1	stopgain SNV	TXNL1:NM_004786:exon7:c.C838T:p.R280X;	exonic	ENSG00000091164	stopgain SNV	ENSG00000091164:ENST00000590954:exon9:c.C838T:p.R280X;ENSG00000091164:ENST00000540155:exon9:c.C469T:p.R157X;ENSG00000091164:ENST00000217515:exon7:c.C838T:p.R280X;	0.940166958483027	0.706
18	54278226	G	C	18	56610995	y	n	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.C838G:p.R280G;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.C838G:p.R280G;ENSG00000091164:ENST00000540155:exon9:c.C469G:p.R157G;ENSG00000091164:ENST00000217515:exon7:c.C838G:p.R280G;	0.0613904028970217	0.356
18	54278226	G	T	18	56610995	y	n	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon7:c.C838A:p.R280R;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.C838A:p.R280R;ENSG00000091164:ENST00000540155:exon9:c.C469A:p.R157R;ENSG00000091164:ENST00000217515:exon7:c.C838A:p.R280R;	0.0071684589553165	0.2
18	54278327	A	C	18	56611096	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.T737G:p.I246R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.T737G:p.I246R;ENSG00000091164:ENST00000540155:exon9:c.T368G:p.I123R;ENSG00000091164:ENST00000217515:exon7:c.T737G:p.I246R;	0.579932917926668	0.446
18	54278327	A	G	18	56611096	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.T737C:p.I246T;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.T737C:p.I246T;ENSG00000091164:ENST00000540155:exon9:c.T368C:p.I123T;ENSG00000091164:ENST00000217515:exon7:c.T737C:p.I246T;	0.46797066384122	0.478
18	54278327	A	T	18	56611096	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.T737A:p.I246K;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.T737A:p.I246K;ENSG00000091164:ENST00000540155:exon9:c.T368A:p.I123K;ENSG00000091164:ENST00000217515:exon7:c.T737A:p.I246K;	0.760881060922519	0.51
18	54278328	T	A	18	56611097	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.A736T:p.I246L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.A736T:p.I246L;ENSG00000091164:ENST00000540155:exon9:c.A367T:p.I123L;ENSG00000091164:ENST00000217515:exon7:c.A736T:p.I246L;	0.00139889411595425	0.05
18	54278328	T	C	18	56611097	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.A736G:p.I246V;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.A736G:p.I246V;ENSG00000091164:ENST00000540155:exon9:c.A367G:p.I123V;ENSG00000091164:ENST00000217515:exon7:c.A736G:p.I246V;	2.75188842024766E-4	0.006
18	54278328	T	G	18	56611097	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon7:c.A736C:p.I246L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon9:c.A736C:p.I246L;ENSG00000091164:ENST00000540155:exon9:c.A367C:p.I123L;ENSG00000091164:ENST00000217515:exon7:c.A736C:p.I246L;	0.00138914313103215	0.048
18	54278329	C	A	18	56611098	y	y	splicing	TXNL1(NM_004786:exon8:c.736-1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon8:c.736-1G>T;ENST00000590954:exon10:c.736-1G>T;ENST00000540155:exon10:c.367-1G>T;ENST00000587807:exon10:c.841-1G>T;ENST00000589931:exon3:c.69-1G>T;ENST00000586262:exon8:c.723-1G>T)	.	.	0.999985532734767	0.936
18	54278329	C	G	18	56611098	y	y	splicing	TXNL1(NM_004786:exon8:c.736-1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon8:c.736-1G>C;ENST00000590954:exon10:c.736-1G>C;ENST00000540155:exon10:c.367-1G>C;ENST00000587807:exon10:c.841-1G>C;ENST00000589931:exon3:c.69-1G>C;ENST00000586262:exon8:c.723-1G>C)	.	.	0.999985532734767	0.936
18	54278329	C	T	18	56611098	y	y	splicing	TXNL1(NM_004786:exon8:c.736-1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon8:c.736-1G>A;ENST00000590954:exon10:c.736-1G>A;ENST00000540155:exon10:c.367-1G>A;ENST00000587807:exon10:c.841-1G>A;ENST00000589931:exon3:c.69-1G>A;ENST00000586262:exon8:c.723-1G>A)	.	.	0.999985532734767	0.936
18	54278330	T	A	18	56611099	y	y	splicing	TXNL1(NM_004786:exon8:c.736-2A>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon8:c.736-2A>T;ENST00000590954:exon10:c.736-2A>T;ENST00000540155:exon10:c.367-2A>T;ENST00000587807:exon10:c.841-2A>T;ENST00000589931:exon3:c.69-2A>T;ENST00000586262:exon8:c.723-2A>T)	.	.	0.999986607513753	0.922
18	54278330	T	C	18	56611099	y	y	splicing	TXNL1(NM_004786:exon8:c.736-2A>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon8:c.736-2A>G;ENST00000590954:exon10:c.736-2A>G;ENST00000540155:exon10:c.367-2A>G;ENST00000587807:exon10:c.841-2A>G;ENST00000589931:exon3:c.69-2A>G;ENST00000586262:exon8:c.723-2A>G)	.	.	0.999986607513753	0.92
18	54278330	T	G	18	56611099	y	y	splicing	TXNL1(NM_004786:exon8:c.736-2A>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon8:c.736-2A>C;ENST00000590954:exon10:c.736-2A>C;ENST00000540155:exon10:c.367-2A>C;ENST00000587807:exon10:c.841-2A>C;ENST00000589931:exon3:c.69-2A>C;ENST00000586262:exon8:c.723-2A>C)	.	.	0.999986607513753	0.92
18	54278331	A	C	18	56611100	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.988634511722335	0.658
18	54278331	A	G	18	56611100	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.08822308182821E-4	0.036
18	54278331	A	T	18	56611100	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.19808656858046	0.364
18	54278332	C	A	18	56611101	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.65022250432764E-4	0.0
18	54278332	C	G	18	56611101	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.87293534147837E-5	0.0
18	54278332	C	T	18	56611101	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.32976419764507E-4	0.002
18	54278333	C	A	18	56611102	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.4015989201386E-4	0.022
18	54278333	C	G	18	56611102	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.47329498549633E-4	0.024
18	54278333	C	T	18	56611102	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.99121063615712	0.794
18	54278334	A	C	18	56611103	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0038374211471021	0.074
18	54278334	A	G	18	56611103	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.13956250417973E-4	0.006
18	54278334	A	T	18	56611103	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.99992734724042	0.988
18	54278335	A	C	18	56611104	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00125784157598629	0.114
18	54278335	A	G	18	56611104	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.25982892041688E-4	0.002
18	54278335	A	T	18	56611104	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00621478029805087	0.108
18	54278336	A	C	18	56611105	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.090448574572207	0.304
18	54278336	A	G	18	56611105	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00364890938751844	0.214
18	54278336	A	T	18	56611105	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.153047202129622	0.356
18	54278337	A	C	18	56611106	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0212622433674232	0.166
18	54278337	A	G	18	56611106	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00273793636949622	0.016
18	54278337	A	T	18	56611106	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0547082715170898	0.182
18	54278338	A	C	18	56611107	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00557533845666065	0.22
18	54278338	A	G	18	56611107	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.81388945697633E-4	0.02
18	54278338	A	T	18	56611107	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00582398020502498	0.148
18	54278339	A	C	18	56611108	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0119013687501673	0.212
18	54278339	A	G	18	56611108	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00182140803660497	0.09
18	54278339	A	T	18	56611108	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0398178452258293	0.374
18	54278340	A	C	18	56611109	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.54563692139794E-4	0.194
18	54278340	A	G	18	56611109	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.53440195611261E-4	0.01
18	54278340	A	T	18	56611109	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.03439294072586E-4	0.158
18	54281647	C	A	18	56614416	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.11242140106713E-4	0.008
18	54281647	C	G	18	56614416	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.2920705451824E-4	0.122
18	54281647	C	T	18	56614416	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.10579896496498E-4	0.014
18	54281648	T	A	18	56614417	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00127132972770675	0.004
18	54281648	T	C	18	56614417	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00140119365424925	0.004
18	54281648	T	G	18	56614417	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00143849169519504	0.01
18	54281649	A	C	18	56614418	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.410905457215175	0.702
18	54281649	A	G	18	56614418	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.413914922805048	0.68
18	54281649	A	T	18	56614418	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.572123022363126	0.624
18	54281650	C	A	18	56614419	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999960578876638	0.98
18	54281650	C	G	18	56614419	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.997727048949588	0.902
18	54281650	C	T	18	56614419	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999978573536582	0.988
18	54281651	T	A	18	56614420	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999125150291706	0.9
18	54281651	T	C	18	56614420	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.99432178700166	0.924
18	54281651	T	G	18	56614420	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.962447676972634	0.76
18	54281652	T	A	18	56614421	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999823565059544	0.924
18	54281652	T	C	18	56614421	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00859337995833812	0.228
18	54281652	T	G	18	56614421	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999718023651178	0.884
18	54281653	A	C	18	56614422	y	y	splicing	TXNL1(NM_004786:exon7:c.735+2T>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.735+2T>G;ENST00000590954:exon9:c.735+2T>G;ENST00000540155:exon9:c.366+2T>G;ENST00000587807:exon9:c.840+2T>G;ENST00000589931:exon2:c.68+2T>G;ENST00000586262:exon7:c.722+2T>G)	.	.	0.999986607513753	0.924
18	54281653	A	G	18	56614422	y	y	splicing	TXNL1(NM_004786:exon7:c.735+2T>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.735+2T>C;ENST00000590954:exon9:c.735+2T>C;ENST00000540155:exon9:c.366+2T>C;ENST00000587807:exon9:c.840+2T>C;ENST00000589931:exon2:c.68+2T>C;ENST00000586262:exon7:c.722+2T>C)	.	.	0.984943611886664	0.58
18	54281653	A	T	18	56614422	y	y	splicing	TXNL1(NM_004786:exon7:c.735+2T>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.735+2T>A;ENST00000590954:exon9:c.735+2T>A;ENST00000540155:exon9:c.366+2T>A;ENST00000587807:exon9:c.840+2T>A;ENST00000589931:exon2:c.68+2T>A;ENST00000586262:exon7:c.722+2T>A)	.	.	0.999986607513753	0.926
18	54281654	C	A	18	56614423	y	y	splicing	TXNL1(NM_004786:exon7:c.735+1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.735+1G>T;ENST00000590954:exon9:c.735+1G>T;ENST00000540155:exon9:c.366+1G>T;ENST00000587807:exon9:c.840+1G>T;ENST00000589931:exon2:c.68+1G>T;ENST00000586262:exon7:c.722+1G>T)	.	.	0.999981760802075	0.944
18	54281654	C	G	18	56614423	y	y	splicing	TXNL1(NM_004786:exon7:c.735+1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.735+1G>C;ENST00000590954:exon9:c.735+1G>C;ENST00000540155:exon9:c.366+1G>C;ENST00000587807:exon9:c.840+1G>C;ENST00000589931:exon2:c.68+1G>C;ENST00000586262:exon7:c.722+1G>C)	.	.	0.999981760802075	0.942
18	54281654	C	T	18	56614423	y	y	splicing	TXNL1(NM_004786:exon7:c.735+1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.735+1G>A;ENST00000590954:exon9:c.735+1G>A;ENST00000540155:exon9:c.366+1G>A;ENST00000587807:exon9:c.840+1G>A;ENST00000589931:exon2:c.68+1G>A;ENST00000586262:exon7:c.722+1G>A)	.	.	0.999981760802075	0.944
18	54281655	A	C	18	56614424	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon6:c.T735G:p.T245T;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.T735G:p.T245T;ENSG00000091164:ENST00000540155:exon8:c.T366G:p.T122T;ENSG00000091164:ENST00000217515:exon6:c.T735G:p.T245T;	1.58547447163371E-4	0.104
18	54281655	A	G	18	56614424	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon6:c.T735C:p.T245T;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.T735C:p.T245T;ENSG00000091164:ENST00000540155:exon8:c.T366C:p.T122T;ENSG00000091164:ENST00000217515:exon6:c.T735C:p.T245T;	0.00262875251753168	0.306
18	54281655	A	T	18	56614424	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon6:c.T735A:p.T245T;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.T735A:p.T245T;ENSG00000091164:ENST00000540155:exon8:c.T366A:p.T122T;ENSG00000091164:ENST00000217515:exon6:c.T735A:p.T245T;	1.11357130925913E-4	0.002
18	54281656	G	A	18	56614425	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.C734T:p.T245I;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.C734T:p.T245I;ENSG00000091164:ENST00000540155:exon8:c.C365T:p.T122I;ENSG00000091164:ENST00000217515:exon6:c.C734T:p.T245I;	0.991019568363329	0.94
18	54281656	G	C	18	56614425	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.C734G:p.T245S;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.C734G:p.T245S;ENSG00000091164:ENST00000540155:exon8:c.C365G:p.T122S;ENSG00000091164:ENST00000217515:exon6:c.C734G:p.T245S;	0.98298052951047	0.932
18	54281656	G	T	18	56614425	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.C734A:p.T245N;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.C734A:p.T245N;ENSG00000091164:ENST00000540155:exon8:c.C365A:p.T122N;ENSG00000091164:ENST00000217515:exon6:c.C734A:p.T245N;	0.962601000731202	0.752
18	54281657	T	A	18	56614426	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.A733T:p.T245S;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.A733T:p.T245S;ENSG00000091164:ENST00000540155:exon8:c.A364T:p.T122S;ENSG00000091164:ENST00000217515:exon6:c.A733T:p.T245S;	0.905036602312571	0.606
18	54281657	T	C	18	56614426	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.A733G:p.T245A;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.A733G:p.T245A;ENSG00000091164:ENST00000540155:exon8:c.A364G:p.T122A;ENSG00000091164:ENST00000217515:exon6:c.A733G:p.T245A;	0.638212635852298	0.564
18	54281657	T	G	18	56614426	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.A733C:p.T245P;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.A733C:p.T245P;ENSG00000091164:ENST00000540155:exon8:c.A364C:p.T122P;ENSG00000091164:ENST00000217515:exon6:c.A733C:p.T245P;	0.741901551929619	0.794
18	54281826	A	C	18	56614595	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon6:c.T564G:p.G188G;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.T564G:p.G188G;ENSG00000091164:ENST00000540155:exon8:c.T195G:p.G65G;ENSG00000091164:ENST00000217515:exon6:c.T564G:p.G188G;	0.00155201554265451	0.058
18	54281826	A	G	18	56614595	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon6:c.T564C:p.G188G;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.T564C:p.G188G;ENSG00000091164:ENST00000540155:exon8:c.T195C:p.G65G;ENSG00000091164:ENST00000217515:exon6:c.T564C:p.G188G;	0.0013833878344833	0.026
18	54281826	A	T	18	56614595	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon6:c.T564A:p.G188G;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.T564A:p.G188G;ENSG00000091164:ENST00000540155:exon8:c.T195A:p.G65G;ENSG00000091164:ENST00000217515:exon6:c.T564A:p.G188G;	0.00175400566989459	0.224
18	54281827	C	A	18	56614596	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.G563T:p.G188V;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.G563T:p.G188V;ENSG00000091164:ENST00000540155:exon8:c.G194T:p.G65V;ENSG00000091164:ENST00000217515:exon6:c.G563T:p.G188V;	0.999852855700927	0.976
18	54281827	C	G	18	56614596	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.G563C:p.G188A;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.G563C:p.G188A;ENSG00000091164:ENST00000540155:exon8:c.G194C:p.G65A;ENSG00000091164:ENST00000217515:exon6:c.G563C:p.G188A;	0.991325559272663	0.814
18	54281827	C	T	18	56614596	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon6:c.G563A:p.G188D;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon8:c.G563A:p.G188D;ENSG00000091164:ENST00000540155:exon8:c.G194A:p.G65D;ENSG00000091164:ENST00000217515:exon6:c.G563A:p.G188D;	0.999679165344868	0.946
18	54281828	C	A	18	56614597	y	y	splicing	TXNL1(NM_004786:exon7:c.563-1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.563-1G>T;ENST00000590954:exon9:c.563-1G>T;ENST00000540155:exon9:c.194-1G>T;ENST00000587807:exon9:c.668-1G>T;ENST00000586262:exon7:c.550-1G>T)	.	.	0.999981760802075	0.944
18	54281828	C	G	18	56614597	y	y	splicing	TXNL1(NM_004786:exon7:c.563-1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.563-1G>C;ENST00000590954:exon9:c.563-1G>C;ENST00000540155:exon9:c.194-1G>C;ENST00000587807:exon9:c.668-1G>C;ENST00000586262:exon7:c.550-1G>C)	.	.	0.999981760802075	0.944
18	54281828	C	T	18	56614597	y	y	splicing	TXNL1(NM_004786:exon7:c.563-1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.563-1G>A;ENST00000590954:exon9:c.563-1G>A;ENST00000540155:exon9:c.194-1G>A;ENST00000587807:exon9:c.668-1G>A;ENST00000586262:exon7:c.550-1G>A)	.	.	0.999981760802075	0.944
18	54281829	T	A	18	56614598	y	y	splicing	TXNL1(NM_004786:exon7:c.563-2A>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.563-2A>T;ENST00000590954:exon9:c.563-2A>T;ENST00000540155:exon9:c.194-2A>T;ENST00000587807:exon9:c.668-2A>T;ENST00000586262:exon7:c.550-2A>T)	.	.	0.999989917668626	0.928
18	54281829	T	C	18	56614598	y	y	splicing	TXNL1(NM_004786:exon7:c.563-2A>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.563-2A>G;ENST00000590954:exon9:c.563-2A>G;ENST00000540155:exon9:c.194-2A>G;ENST00000587807:exon9:c.668-2A>G;ENST00000586262:exon7:c.550-2A>G)	.	.	0.999989917668626	0.928
18	54281829	T	G	18	56614598	y	y	splicing	TXNL1(NM_004786:exon7:c.563-2A>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon7:c.563-2A>C;ENST00000590954:exon9:c.563-2A>C;ENST00000540155:exon9:c.194-2A>C;ENST00000587807:exon9:c.668-2A>C;ENST00000586262:exon7:c.550-2A>C)	.	.	0.999989917668626	0.928
18	54281830	A	C	18	56614599	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.996189536215232	0.734
18	54281830	A	G	18	56614599	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.06855516671164E-4	0.02
18	54281830	A	T	18	56614599	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.272751008989495	0.452
18	54281831	T	A	18	56614600	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.17153477886813E-4	0.002
18	54281831	T	C	18	56614600	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.07553965897311E-4	0.002
18	54281831	T	G	18	56614600	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.43150403560444E-5	0.002
18	54281832	A	C	18	56614601	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.394003181227648	0.494
18	54281832	A	G	18	56614601	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00716739943603923	0.144
18	54281832	A	T	18	56614601	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.67663504941313	0.56
18	54281833	C	A	18	56614602	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.84394455665332E-5	0.004
18	54281833	C	G	18	56614602	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.8759876360707E-5	0.024
18	54281833	C	T	18	56614602	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.38042579443886E-5	0.004
18	54281834	A	C	18	56614603	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0604976921633241	0.28
18	54281834	A	G	18	56614603	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.76886617832617E-4	0.002
18	54281834	A	T	18	56614603	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999785646523927	0.978
18	54281835	A	C	18	56614604	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999939650692093	0.988
18	54281835	A	G	18	56614604	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00241416118957618	0.044
18	54281835	A	T	18	56614604	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.659899643126271	0.402
18	54281836	T	A	18	56614605	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.04421882197906E-5	0.01
18	54281836	T	C	18	56614605	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.43998689141505E-5	0.004
18	54281836	T	G	18	56614605	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.00865287067516E-4	0.006
18	54281837	G	A	18	56614606	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.45964144035552E-5	0.0
18	54281837	G	C	18	56614606	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.81634096586245E-4	0.034
18	54281837	G	T	18	56614606	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00187093629271338	0.138
18	54281838	G	A	18	56614607	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.01417739170556E-4	0.038
18	54281838	G	C	18	56614607	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.998961330965516	0.962
18	54281838	G	T	18	56614607	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00300992884885395	0.062
18	54281839	T	A	18	56614608	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.13829490749019E-5	0.008
18	54281839	T	C	18	56614608	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.24255728863696E-5	0.012
18	54281839	T	G	18	56614608	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.82189892481734E-5	0.0
18	54283468	T	A	18	56616237	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.13070713883436E-5	0.0
18	54283468	T	C	18	56616237	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.59638679502308E-5	0.0
18	54283468	T	G	18	56616237	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.27477746119029E-5	0.0
18	54283469	T	A	18	56616238	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.79960960439925E-5	0.002
18	54283469	T	C	18	56616238	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.25597188087001E-4	0.002
18	54283469	T	G	18	56616238	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.81532097565074E-4	0.01
18	54283470	A	C	18	56616239	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.459655326784676	0.52
18	54283470	A	G	18	56616239	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.699051983824808	0.496
18	54283470	A	T	18	56616239	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.918335194789625	0.628
18	54283471	C	A	18	56616240	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999342067953103	0.882
18	54283471	C	G	18	56616240	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999820510513458	0.976
18	54283471	C	T	18	56616240	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999467775996581	0.968
18	54283472	T	A	18	56616241	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.998312222438929	0.89
18	54283472	T	C	18	56616241	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.997589286263776	0.902
18	54283472	T	G	18	56616241	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.983028684640736	0.738
18	54283473	C	A	18	56616242	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.102045664187127	0.474
18	54283473	C	G	18	56616242	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.822126004821303	0.576
18	54283473	C	T	18	56616242	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.89254064309698E-4	0.0
18	54283474	A	C	18	56616243	y	y	splicing	TXNL1(NM_004786:exon6:c.562+2T>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.562+2T>G;ENST00000590954:exon8:c.562+2T>G;ENST00000540155:exon8:c.193+2T>G;ENST00000587807:exon8:c.667+2T>G;ENST00000586262:exon6:c.549+2T>G)	.	.	0.999988247793601	0.93
18	54283474	A	G	18	56616243	y	y	splicing	TXNL1(NM_004786:exon6:c.562+2T>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.562+2T>C;ENST00000590954:exon8:c.562+2T>C;ENST00000540155:exon8:c.193+2T>C;ENST00000587807:exon8:c.667+2T>C;ENST00000586262:exon6:c.549+2T>C)	.	.	0.999956260549993	0.874
18	54283474	A	T	18	56616243	y	y	splicing	TXNL1(NM_004786:exon6:c.562+2T>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.562+2T>A;ENST00000590954:exon8:c.562+2T>A;ENST00000540155:exon8:c.193+2T>A;ENST00000587807:exon8:c.667+2T>A;ENST00000586262:exon6:c.549+2T>A)	.	.	0.999988247793601	0.93
18	54283475	C	A	18	56616244	y	y	splicing	TXNL1(NM_004786:exon6:c.562+1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.562+1G>T;ENST00000590954:exon8:c.562+1G>T;ENST00000540155:exon8:c.193+1G>T;ENST00000587807:exon8:c.667+1G>T;ENST00000586262:exon6:c.549+1G>T)	.	.	0.999989072007339	0.934
18	54283475	C	G	18	56616244	y	y	splicing	TXNL1(NM_004786:exon6:c.562+1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.562+1G>C;ENST00000590954:exon8:c.562+1G>C;ENST00000540155:exon8:c.193+1G>C;ENST00000587807:exon8:c.667+1G>C;ENST00000586262:exon6:c.549+1G>C)	.	.	0.999989072007339	0.934
18	54283475	C	T	18	56616244	y	y	splicing	TXNL1(NM_004786:exon6:c.562+1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.562+1G>A;ENST00000590954:exon8:c.562+1G>A;ENST00000540155:exon8:c.193+1G>A;ENST00000587807:exon8:c.667+1G>A;ENST00000586262:exon6:c.549+1G>A)	.	.	0.999989072007339	0.934
18	54283476	C	A	18	56616245	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.G562T:p.G188C;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.G562T:p.G188C;ENSG00000091164:ENST00000540155:exon7:c.G193T:p.G65C;ENSG00000091164:ENST00000217515:exon5:c.G562T:p.G188C;	0.999943787316774	0.902
18	54283476	C	G	18	56616245	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.G562C:p.G188R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.G562C:p.G188R;ENSG00000091164:ENST00000540155:exon7:c.G193C:p.G65R;ENSG00000091164:ENST00000217515:exon5:c.G562C:p.G188R;	0.999977876178182	0.99
18	54283476	C	T	18	56616245	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.G562A:p.G188S;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.G562A:p.G188S;ENSG00000091164:ENST00000540155:exon7:c.G193A:p.G65S;ENSG00000091164:ENST00000217515:exon5:c.G562A:p.G188S;	0.999949642197972	0.98
18	54283477	A	C	18	56616246	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.T561G:p.N187K;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.T561G:p.N187K;ENSG00000091164:ENST00000540155:exon7:c.T192G:p.N64K;ENSG00000091164:ENST00000217515:exon5:c.T561G:p.N187K;	0.00196865128172394	0.026
18	54283477	A	G	18	56616246	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon5:c.T561C:p.N187N;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.T561C:p.N187N;ENSG00000091164:ENST00000540155:exon7:c.T192C:p.N64N;ENSG00000091164:ENST00000217515:exon5:c.T561C:p.N187N;	2.96529594016319E-4	0.004
18	54283477	A	T	18	56616246	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.T561A:p.N187K;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.T561A:p.N187K;ENSG00000091164:ENST00000540155:exon7:c.T192A:p.N64K;ENSG00000091164:ENST00000217515:exon5:c.T561A:p.N187K;	1.40310651432693E-4	0.124
18	54283478	T	A	18	56616247	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.A560T:p.N187I;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.A560T:p.N187I;ENSG00000091164:ENST00000540155:exon7:c.A191T:p.N64I;ENSG00000091164:ENST00000217515:exon5:c.A560T:p.N187I;	0.962004040810749	0.508
18	54283478	T	C	18	56616247	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.A560G:p.N187S;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.A560G:p.N187S;ENSG00000091164:ENST00000540155:exon7:c.A191G:p.N64S;ENSG00000091164:ENST00000217515:exon5:c.A560G:p.N187S;	0.0483370969710595	0.204
18	54283478	T	G	18	56616247	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.A560C:p.N187T;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.A560C:p.N187T;ENSG00000091164:ENST00000540155:exon7:c.A191C:p.N64T;ENSG00000091164:ENST00000217515:exon5:c.A560C:p.N187T;	0.00607570093172978	0.024
18	54283544	A	C	18	56616313	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.T494G:p.L165R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.T494G:p.L165R;ENSG00000091164:ENST00000540155:exon7:c.T125G:p.L42R;ENSG00000091164:ENST00000217515:exon5:c.T494G:p.L165R;	0.942334910796048	0.418
18	54283544	A	G	18	56616313	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.T494C:p.L165P;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.T494C:p.L165P;ENSG00000091164:ENST00000540155:exon7:c.T125C:p.L42P;ENSG00000091164:ENST00000217515:exon5:c.T494C:p.L165P;	0.948458812416929	0.448
18	54283544	A	T	18	56616313	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.T494A:p.L165Q;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.T494A:p.L165Q;ENSG00000091164:ENST00000540155:exon7:c.T125A:p.L42Q;ENSG00000091164:ENST00000217515:exon5:c.T494A:p.L165Q;	0.937230964891721	0.462
18	54283545	G	A	18	56616314	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon5:c.C493T:p.L165L;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.C493T:p.L165L;ENSG00000091164:ENST00000540155:exon7:c.C124T:p.L42L;ENSG00000091164:ENST00000217515:exon5:c.C493T:p.L165L;	0.0196700652226655	0.33
18	54283545	G	C	18	56616314	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.C493G:p.L165V;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.C493G:p.L165V;ENSG00000091164:ENST00000540155:exon7:c.C124G:p.L42V;ENSG00000091164:ENST00000217515:exon5:c.C493G:p.L165V;	0.00282995334401112	0.13
18	54283545	G	T	18	56616314	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon5:c.C493A:p.L165M;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon7:c.C493A:p.L165M;ENSG00000091164:ENST00000540155:exon7:c.C124A:p.L42M;ENSG00000091164:ENST00000217515:exon5:c.C493A:p.L165M;	0.517809098384155	0.582
18	54283546	C	A	18	56616315	y	y	splicing	TXNL1(NM_004786:exon6:c.493-1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.493-1G>T;ENST00000590954:exon8:c.493-1G>T;ENST00000540155:exon8:c.124-1G>T;ENST00000587807:exon8:c.598-1G>T;ENST00000586262:exon6:c.480-1G>T)	.	.	0.999991412108771	0.934
18	54283546	C	G	18	56616315	y	y	splicing	TXNL1(NM_004786:exon6:c.493-1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.493-1G>C;ENST00000590954:exon8:c.493-1G>C;ENST00000540155:exon8:c.124-1G>C;ENST00000587807:exon8:c.598-1G>C;ENST00000586262:exon6:c.480-1G>C)	.	.	0.999991412108771	0.936
18	54283546	C	T	18	56616315	y	y	splicing	TXNL1(NM_004786:exon6:c.493-1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.493-1G>A;ENST00000590954:exon8:c.493-1G>A;ENST00000540155:exon8:c.124-1G>A;ENST00000587807:exon8:c.598-1G>A;ENST00000586262:exon6:c.480-1G>A)	.	.	0.999991412108771	0.938
18	54283547	T	A	18	56616316	y	y	splicing	TXNL1(NM_004786:exon6:c.493-2A>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.493-2A>T;ENST00000590954:exon8:c.493-2A>T;ENST00000540155:exon8:c.124-2A>T;ENST00000587807:exon8:c.598-2A>T;ENST00000586262:exon6:c.480-2A>T)	.	.	0.999990764389106	0.938
18	54283547	T	C	18	56616316	y	y	splicing	TXNL1(NM_004786:exon6:c.493-2A>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.493-2A>G;ENST00000590954:exon8:c.493-2A>G;ENST00000540155:exon8:c.124-2A>G;ENST00000587807:exon8:c.598-2A>G;ENST00000586262:exon6:c.480-2A>G)	.	.	0.999990764389106	0.938
18	54283547	T	G	18	56616316	y	y	splicing	TXNL1(NM_004786:exon6:c.493-2A>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon6:c.493-2A>C;ENST00000590954:exon8:c.493-2A>C;ENST00000540155:exon8:c.124-2A>C;ENST00000587807:exon8:c.598-2A>C;ENST00000586262:exon6:c.480-2A>C)	.	.	0.999990764389106	0.938
18	54283548	G	A	18	56616317	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0121204866132407	0.17
18	54283548	G	C	18	56616317	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999075581905107	0.792
18	54283548	G	T	18	56616317	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.7075339249259	0.662
18	54283549	T	A	18	56616318	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0015542368248939	0.05
18	54283549	T	C	18	56616318	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.9951018814806E-4	0.064
18	54283549	T	G	18	56616318	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.13897723261657E-4	0.01
18	54283550	G	A	18	56616319	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.22862373957458E-4	0.0
18	54283550	G	C	18	56616319	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00167773735848589	0.112
18	54283550	G	T	18	56616319	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00167773735848589	0.148
18	54283551	A	C	18	56616320	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.70375966122004E-4	0.11
18	54283551	A	G	18	56616320	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.22911130900868E-4	0.03
18	54283551	A	T	18	56616320	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.82063391529346E-4	0.09
18	54283552	A	C	18	56616321	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.003525793117999	0.112
18	54283552	A	G	18	56616321	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.24874948245101E-4	0.058
18	54283552	A	T	18	56616321	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0188998386507544	0.128
18	54283553	G	A	18	56616322	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.84314746531034E-5	0.1
18	54283553	G	C	18	56616322	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0027151318456501	0.076
18	54283553	G	T	18	56616322	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00295407788510485	0.174
18	54283554	A	C	18	56616323	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999950832684499	0.984
18	54283554	A	G	18	56616323	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.25740717145107E-4	0.034
18	54283554	A	T	18	56616323	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00186667469973015	0.17
18	54283555	T	A	18	56616324	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.11790132975248E-5	0.0
18	54283555	T	C	18	56616324	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.71569623864264E-5	0.086
18	54283555	T	G	18	56616324	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.10016011080147E-5	0.0
18	54283556	A	C	18	56616325	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.210473561637817	0.46
18	54283556	A	G	18	56616325	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0682176327843024	0.262
18	54283556	A	T	18	56616325	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.377146131674378	0.546
18	54283557	A	C	18	56616326	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.13563476044879E-4	0.058
18	54283557	A	G	18	56616326	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.87979518956113E-4	0.014
18	54283557	A	T	18	56616326	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.50191591312207E-4	0.054
18	54285227	T	A	18	56617996	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.57281371371786E-5	0.0
18	54285227	T	C	18	56617996	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.51346493852801E-5	0.008
18	54285227	T	G	18	56617996	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.98449269220386E-5	0.0
18	54285228	C	A	18	56617997	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.64685171985543E-4	0.0
18	54285228	C	G	18	56617997	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.78389654127837E-5	0.0
18	54285228	C	T	18	56617997	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.78389654127837E-5	0.002
18	54285229	A	C	18	56617998	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.83582761626968E-4	0.126
18	54285229	A	G	18	56617998	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0790068387859471	0.192
18	54285229	A	T	18	56617998	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00162654479054146	0.094
18	54285230	A	C	18	56617999	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.76931621252144E-4	0.07
18	54285230	A	G	18	56617999	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.6644616667332E-5	0.0
18	54285230	A	T	18	56617999	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.61739874629565E-4	0.002
18	54285231	T	A	18	56618000	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.152477982766776	0.434
18	54285231	T	C	18	56618000	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.200150198173654	0.446
18	54285231	T	G	18	56618000	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.123826429533652	0.466
18	54285232	T	A	18	56618001	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999705312450539	0.934
18	54285232	T	C	18	56618001	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.997889157306502	0.864
18	54285232	T	G	18	56618001	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999531361694558	0.974
18	54285233	A	C	18	56618002	y	y	splicing	TXNL1(NM_004786:exon5:c.492+2T>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.492+2T>G;ENST00000590954:exon7:c.492+2T>G;ENST00000540155:exon7:c.123+2T>G;ENST00000587807:exon7:c.597+2T>G;ENST00000586262:exon5:c.479+2T>G)	.	.	0.999988247793601	0.928
18	54285233	A	G	18	56618002	y	y	splicing	TXNL1(NM_004786:exon5:c.492+2T>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.492+2T>C;ENST00000590954:exon7:c.492+2T>C;ENST00000540155:exon7:c.123+2T>C;ENST00000587807:exon7:c.597+2T>C;ENST00000586262:exon5:c.479+2T>C)	.	.	0.994669226766359	0.638
18	54285233	A	T	18	56618002	y	y	splicing	TXNL1(NM_004786:exon5:c.492+2T>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.492+2T>A;ENST00000590954:exon7:c.492+2T>A;ENST00000540155:exon7:c.123+2T>A;ENST00000587807:exon7:c.597+2T>A;ENST00000586262:exon5:c.479+2T>A)	.	.	0.999988247793601	0.928
18	54285234	C	A	18	56618003	y	y	splicing	TXNL1(NM_004786:exon5:c.492+1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.492+1G>T;ENST00000590954:exon7:c.492+1G>T;ENST00000540155:exon7:c.123+1G>T;ENST00000587807:exon7:c.597+1G>T;ENST00000586262:exon5:c.479+1G>T)	.	.	0.999986675681007	0.934
18	54285234	C	G	18	56618003	y	y	splicing	TXNL1(NM_004786:exon5:c.492+1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.492+1G>C;ENST00000590954:exon7:c.492+1G>C;ENST00000540155:exon7:c.123+1G>C;ENST00000587807:exon7:c.597+1G>C;ENST00000586262:exon5:c.479+1G>C)	.	.	0.999986675681007	0.934
18	54285234	C	T	18	56618003	y	y	splicing	TXNL1(NM_004786:exon5:c.492+1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.492+1G>A;ENST00000590954:exon7:c.492+1G>A;ENST00000540155:exon7:c.123+1G>A;ENST00000587807:exon7:c.597+1G>A;ENST00000586262:exon5:c.479+1G>A)	.	.	0.999986675681007	0.934
18	54285235	C	A	18	56618004	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.G492T:p.Q164H;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.G492T:p.Q164H;ENSG00000091164:ENST00000540155:exon6:c.G123T:p.Q41H;ENSG00000091164:ENST00000217515:exon4:c.G492T:p.Q164H;	0.999977144067382	0.98
18	54285235	C	G	18	56618004	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.G492C:p.Q164H;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.G492C:p.Q164H;ENSG00000091164:ENST00000540155:exon6:c.G123C:p.Q41H;ENSG00000091164:ENST00000217515:exon4:c.G492C:p.Q164H;	0.999996849704514	1.0
18	54285235	C	T	18	56618004	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon4:c.G492A:p.Q164Q;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.G492A:p.Q164Q;ENSG00000091164:ENST00000540155:exon6:c.G123A:p.Q41Q;ENSG00000091164:ENST00000217515:exon4:c.G492A:p.Q164Q;	0.999839816997392	0.998
18	54285236	T	A	18	56618005	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.A491T:p.Q164L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.A491T:p.Q164L;ENSG00000091164:ENST00000540155:exon6:c.A122T:p.Q41L;ENSG00000091164:ENST00000217515:exon4:c.A491T:p.Q164L;	0.999870609833354	0.986
18	54285236	T	C	18	56618005	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.A491G:p.Q164R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.A491G:p.Q164R;ENSG00000091164:ENST00000540155:exon6:c.A122G:p.Q41R;ENSG00000091164:ENST00000217515:exon4:c.A491G:p.Q164R;	0.99971431907489	0.986
18	54285236	T	G	18	56618005	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.A491C:p.Q164P;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.A491C:p.Q164P;ENSG00000091164:ENST00000540155:exon6:c.A122C:p.Q41P;ENSG00000091164:ENST00000217515:exon4:c.A491C:p.Q164P;	0.994500778773387	0.874
18	54285237	G	A	18	56618006	y	y	exonic	TXNL1	stopgain SNV	TXNL1:NM_004786:exon4:c.C490T:p.Q164X;	exonic	ENSG00000091164	stopgain SNV	ENSG00000091164:ENST00000590954:exon6:c.C490T:p.Q164X;ENSG00000091164:ENST00000540155:exon6:c.C121T:p.Q41X;ENSG00000091164:ENST00000217515:exon4:c.C490T:p.Q164X;	0.999318692558604	0.938
18	54285237	G	C	18	56618006	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.C490G:p.Q164E;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.C490G:p.Q164E;ENSG00000091164:ENST00000540155:exon6:c.C121G:p.Q41E;ENSG00000091164:ENST00000217515:exon4:c.C490G:p.Q164E;	0.911424917120286	0.65
18	54285237	G	T	18	56618006	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.C490A:p.Q164K;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.C490A:p.Q164K;ENSG00000091164:ENST00000540155:exon6:c.C121A:p.Q41K;ENSG00000091164:ENST00000217515:exon4:c.C490A:p.Q164K;	0.939507727231465	0.86
18	54285356	A	C	18	56618125	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.T371G:p.M124R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.T371G:p.M124R;ENSG00000091164:ENST00000540155:exon6:c.T2G:p.M1R;ENSG00000091164:ENST00000217515:exon4:c.T371G:p.M124R;ENSG00000091164:ENST00000587613:exon4:c.T332G:p.M111R;	0.518343494618671	0.39
18	54285356	A	G	18	56618125	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.T371C:p.M124T;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.T371C:p.M124T;ENSG00000091164:ENST00000540155:exon6:c.T2C:p.M1T;ENSG00000091164:ENST00000217515:exon4:c.T371C:p.M124T;ENSG00000091164:ENST00000587613:exon4:c.T332C:p.M111T;	0.343146424598415	0.362
18	54285356	A	T	18	56618125	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.T371A:p.M124K;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.T371A:p.M124K;ENSG00000091164:ENST00000540155:exon6:c.T2A:p.M1K;ENSG00000091164:ENST00000217515:exon4:c.T371A:p.M124K;ENSG00000091164:ENST00000587613:exon4:c.T332A:p.M111K;	0.592965573545615	0.376
18	54285357	T	A	18	56618126	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.A370T:p.M124L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.A370T:p.M124L;ENSG00000091164:ENST00000540155:exon6:c.A1T:p.M1L;ENSG00000091164:ENST00000217515:exon4:c.A370T:p.M124L;ENSG00000091164:ENST00000587613:exon4:c.A331T:p.M111L;	0.464407519872499	0.484
18	54285357	T	C	18	56618126	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.A370G:p.M124V;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.A370G:p.M124V;ENSG00000091164:ENST00000540155:exon6:c.A1G:p.M1V;ENSG00000091164:ENST00000217515:exon4:c.A370G:p.M124V;ENSG00000091164:ENST00000587613:exon4:c.A331G:p.M111V;	0.0212685873207789	0.254
18	54285357	T	G	18	56618126	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon4:c.A370C:p.M124L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon6:c.A370C:p.M124L;ENSG00000091164:ENST00000540155:exon6:c.A1C:p.M1L;ENSG00000091164:ENST00000217515:exon4:c.A370C:p.M124L;ENSG00000091164:ENST00000587613:exon4:c.A331C:p.M111L;	0.51802648332621	0.512
18	54285358	C	A	18	56618127	y	y	splicing	TXNL1(NM_004786:exon5:c.370-1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.370-1G>T;ENST00000590954:exon7:c.370-1G>T;ENST00000587807:exon7:c.475-1G>T;ENST00000586262:exon5:c.357-1G>T;ENST00000587613:exon5:c.331-1G>T)	.	.	0.999986675681007	0.934
18	54285358	C	G	18	56618127	y	y	splicing	TXNL1(NM_004786:exon5:c.370-1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.370-1G>C;ENST00000590954:exon7:c.370-1G>C;ENST00000587807:exon7:c.475-1G>C;ENST00000586262:exon5:c.357-1G>C;ENST00000587613:exon5:c.331-1G>C)	.	.	0.999986675681007	0.934
18	54285358	C	T	18	56618127	y	y	splicing	TXNL1(NM_004786:exon5:c.370-1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.370-1G>A;ENST00000590954:exon7:c.370-1G>A;ENST00000587807:exon7:c.475-1G>A;ENST00000586262:exon5:c.357-1G>A;ENST00000587613:exon5:c.331-1G>A)	.	.	0.999986675681007	0.934
18	54285359	T	A	18	56618128	y	y	splicing	TXNL1(NM_004786:exon5:c.370-2A>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.370-2A>T;ENST00000590954:exon7:c.370-2A>T;ENST00000587807:exon7:c.475-2A>T;ENST00000586262:exon5:c.357-2A>T;ENST00000587613:exon5:c.331-2A>T)	.	.	0.999988247793601	0.928
18	54285359	T	C	18	56618128	y	y	splicing	TXNL1(NM_004786:exon5:c.370-2A>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.370-2A>G;ENST00000590954:exon7:c.370-2A>G;ENST00000587807:exon7:c.475-2A>G;ENST00000586262:exon5:c.357-2A>G;ENST00000587613:exon5:c.331-2A>G)	.	.	0.999988247793601	0.928
18	54285359	T	G	18	56618128	y	y	splicing	TXNL1(NM_004786:exon5:c.370-2A>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon5:c.370-2A>C;ENST00000590954:exon7:c.370-2A>C;ENST00000587807:exon7:c.475-2A>C;ENST00000586262:exon5:c.357-2A>C;ENST00000587613:exon5:c.331-2A>C)	.	.	0.999988247793601	0.928
18	54285360	G	A	18	56618129	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.19558976969184E-4	0.05
18	54285360	G	C	18	56618129	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.995533509438607	0.928
18	54285360	G	T	18	56618129	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.515679928430163	0.456
18	54285361	A	C	18	56618130	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.37624971820458E-4	0.002
18	54285361	A	G	18	56618130	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.26401688809535E-4	0.002
18	54285361	A	T	18	56618130	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.33911601463717E-4	0.0
18	54285362	A	C	18	56618131	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.924093603837891	0.504
18	54285362	A	G	18	56618131	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00346970770624917	0.174
18	54285362	A	T	18	56618131	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.593124343573286	0.524
18	54285363	A	C	18	56618132	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.255014342075917	0.29
18	54285363	A	G	18	56618132	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.38786817620916E-5	0.0
18	54285363	A	T	18	56618132	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0904542201083796	0.228
18	54285364	A	C	18	56618133	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0211084157196058	0.116
18	54285364	A	G	18	56618133	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.48300896673042E-4	0.006
18	54285364	A	T	18	56618133	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.067970175401836	0.124
18	54285365	A	C	18	56618134	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00466018339976289	0.146
18	54285365	A	G	18	56618134	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	9.08394900548102E-5	0.0
18	54285365	A	T	18	56618134	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0840761957681533	0.124
18	54285366	A	C	18	56618135	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0238852437781911	0.366
18	54285366	A	G	18	56618135	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.87755148200472E-4	0.022
18	54285366	A	T	18	56618135	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.389512953988562	0.394
18	54285367	A	C	18	56618136	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0509148346779866	0.344
18	54285367	A	G	18	56618136	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	9.3214924635816E-5	0.018
18	54285367	A	T	18	56618136	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0987092951967918	0.332
18	54285368	A	C	18	56618137	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999851137600677	0.944
18	54285368	A	G	18	56618137	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.33794965116014E-4	0.096
18	54285368	A	T	18	56618137	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.258990193417799	0.5
18	54285369	T	A	18	56618138	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.96294871141388E-5	0.002
18	54285369	T	C	18	56618138	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.989110310173444	0.87
18	54285369	T	G	18	56618138	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.21091278145767E-5	0.002
18	54291511	C	A	18	56624280	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.7532935201599E-4	0.066
18	54291511	C	G	18	56624280	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.12023086082867E-4	0.026
18	54291511	C	T	18	56624280	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.40698058803422E-4	0.008
18	54291512	T	A	18	56624281	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00190754318164073	0.168
18	54291512	T	C	18	56624281	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.45724870347014E-4	0.062
18	54291512	T	G	18	56624281	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.21090097572096E-5	0.002
18	54291513	A	C	18	56624282	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.998446737768607	0.862
18	54291513	A	G	18	56624282	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.997168711344272	0.904
18	54291513	A	T	18	56624282	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999751995913006	0.822
18	54291514	C	A	18	56624283	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999962087023004	0.984
18	54291514	C	G	18	56624283	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999962436583952	0.986
18	54291514	C	T	18	56624283	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999962087023004	0.994
18	54291515	A	C	18	56624284	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00650112039164874	0.07
18	54291515	A	G	18	56624284	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00116480170769005	0.076
18	54291515	A	T	18	56624284	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.54169168770775E-4	0.034
18	54291516	T	A	18	56624285	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999882820844222	0.958
18	54291516	T	C	18	56624285	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999897786907282	0.986
18	54291516	T	G	18	56624285	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999869785021862	0.964
18	54291517	A	C	18	56624286	y	y	splicing	TXNL1(NM_004786:exon4:c.369+2T>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.369+2T>G;ENST00000590954:exon6:c.369+2T>G;ENST00000587807:exon6:c.474+2T>G;ENST00000586262:exon4:c.356+2T>G;ENST00000587613:exon4:c.330+2T>G)	.	.	0.999988247793601	0.9
18	54291517	A	G	18	56624286	y	y	splicing	TXNL1(NM_004786:exon4:c.369+2T>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.369+2T>C;ENST00000590954:exon6:c.369+2T>C;ENST00000587807:exon6:c.474+2T>C;ENST00000586262:exon4:c.356+2T>C;ENST00000587613:exon4:c.330+2T>C)	.	.	0.995320650369382	0.702
18	54291517	A	T	18	56624286	y	y	splicing	TXNL1(NM_004786:exon4:c.369+2T>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.369+2T>A;ENST00000590954:exon6:c.369+2T>A;ENST00000587807:exon6:c.474+2T>A;ENST00000586262:exon4:c.356+2T>A;ENST00000587613:exon4:c.330+2T>A)	.	.	0.999988247793601	0.902
18	54291518	C	A	18	56624287	y	y	splicing	TXNL1(NM_004786:exon4:c.369+1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.369+1G>T;ENST00000590954:exon6:c.369+1G>T;ENST00000587807:exon6:c.474+1G>T;ENST00000586262:exon4:c.356+1G>T;ENST00000587613:exon4:c.330+1G>T)	.	.	0.999990361384395	0.918
18	54291518	C	G	18	56624287	y	y	splicing	TXNL1(NM_004786:exon4:c.369+1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.369+1G>C;ENST00000590954:exon6:c.369+1G>C;ENST00000587807:exon6:c.474+1G>C;ENST00000586262:exon4:c.356+1G>C;ENST00000587613:exon4:c.330+1G>C)	.	.	0.999990361384395	0.918
18	54291518	C	T	18	56624287	y	y	splicing	TXNL1(NM_004786:exon4:c.369+1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.369+1G>A;ENST00000590954:exon6:c.369+1G>A;ENST00000587807:exon6:c.474+1G>A;ENST00000586262:exon4:c.356+1G>A;ENST00000587613:exon4:c.330+1G>A)	.	.	0.999990361384395	0.918
18	54291519	A	C	18	56624288	y	y	exonic	TXNL1	stopgain SNV	TXNL1:NM_004786:exon3:c.T369G:p.Y123X;	exonic	ENSG00000091164	stopgain SNV	ENSG00000091164:ENST00000590954:exon5:c.T369G:p.Y123X;ENSG00000091164:ENST00000217515:exon3:c.T369G:p.Y123X;ENSG00000091164:ENST00000587613:exon3:c.T330G:p.Y110X;	9.92513318181392E-4	0.444
18	54291519	A	G	18	56624288	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon3:c.T369C:p.Y123Y;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.T369C:p.Y123Y;ENSG00000091164:ENST00000217515:exon3:c.T369C:p.Y123Y;ENSG00000091164:ENST00000587613:exon3:c.T330C:p.Y110Y;	0.00250211302019807	0.462
18	54291519	A	T	18	56624288	y	y	exonic	TXNL1	stopgain SNV	TXNL1:NM_004786:exon3:c.T369A:p.Y123X;	exonic	ENSG00000091164	stopgain SNV	ENSG00000091164:ENST00000590954:exon5:c.T369A:p.Y123X;ENSG00000091164:ENST00000217515:exon3:c.T369A:p.Y123X;ENSG00000091164:ENST00000587613:exon3:c.T330A:p.Y110X;	0.00297819669303625	0.452
18	54291520	T	A	18	56624289	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.A368T:p.Y123F;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.A368T:p.Y123F;ENSG00000091164:ENST00000217515:exon3:c.A368T:p.Y123F;ENSG00000091164:ENST00000587613:exon3:c.A329T:p.Y110F;	0.999883244874181	0.994
18	54291520	T	C	18	56624289	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.A368G:p.Y123C;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.A368G:p.Y123C;ENSG00000091164:ENST00000217515:exon3:c.A368G:p.Y123C;ENSG00000091164:ENST00000587613:exon3:c.A329G:p.Y110C;	0.999600020676183	0.962
18	54291520	T	G	18	56624289	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.A368C:p.Y123S;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.A368C:p.Y123S;ENSG00000091164:ENST00000217515:exon3:c.A368C:p.Y123S;ENSG00000091164:ENST00000587613:exon3:c.A329C:p.Y110S;	0.99953441382075	0.948
18	54291521	A	C	18	56624290	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.T367G:p.Y123D;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.T367G:p.Y123D;ENSG00000091164:ENST00000217515:exon3:c.T367G:p.Y123D;ENSG00000091164:ENST00000587613:exon3:c.T328G:p.Y110D;	0.734847664084898	0.596
18	54291521	A	G	18	56624290	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.T367C:p.Y123H;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.T367C:p.Y123H;ENSG00000091164:ENST00000217515:exon3:c.T367C:p.Y123H;ENSG00000091164:ENST00000587613:exon3:c.T328C:p.Y110H;	0.0022524633701391	0.1
18	54291521	A	T	18	56624290	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.T367A:p.Y123N;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.T367A:p.Y123N;ENSG00000091164:ENST00000217515:exon3:c.T367A:p.Y123N;ENSG00000091164:ENST00000587613:exon3:c.T328A:p.Y110N;	0.738385070881884	0.624
18	54291691	C	A	18	56624460	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.G197T:p.G66V;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.G197T:p.G66V;ENSG00000091164:ENST00000217515:exon3:c.G197T:p.G66V;ENSG00000091164:ENST00000587613:exon3:c.G158T:p.G53V;	0.312910268633879	0.424
18	54291691	C	G	18	56624460	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.G197C:p.G66A;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.G197C:p.G66A;ENSG00000091164:ENST00000217515:exon3:c.G197C:p.G66A;ENSG00000091164:ENST00000587613:exon3:c.G158C:p.G53A;	0.0197477231149143	0.148
18	54291691	C	T	18	56624460	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.G197A:p.G66E;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.G197A:p.G66E;ENSG00000091164:ENST00000217515:exon3:c.G197A:p.G66E;ENSG00000091164:ENST00000587613:exon3:c.G158A:p.G53E;	0.00506174623624041	0.2
18	54291692	C	A	18	56624461	y	y	exonic	TXNL1	stopgain SNV	TXNL1:NM_004786:exon3:c.G196T:p.G66X;	exonic	ENSG00000091164	stopgain SNV	ENSG00000091164:ENST00000590954:exon5:c.G196T:p.G66X;ENSG00000091164:ENST00000217515:exon3:c.G196T:p.G66X;ENSG00000091164:ENST00000587613:exon3:c.G157T:p.G53X;	0.999715321873511	0.972
18	54291692	C	G	18	56624461	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.G196C:p.G66R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.G196C:p.G66R;ENSG00000091164:ENST00000217515:exon3:c.G196C:p.G66R;ENSG00000091164:ENST00000587613:exon3:c.G157C:p.G53R;	0.968190057242766	0.856
18	54291692	C	T	18	56624461	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon3:c.G196A:p.G66R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon5:c.G196A:p.G66R;ENSG00000091164:ENST00000217515:exon3:c.G196A:p.G66R;ENSG00000091164:ENST00000587613:exon3:c.G157A:p.G53R;	0.844184898963366	0.7
18	54291693	C	A	18	56624462	y	y	splicing	TXNL1(NM_004786:exon4:c.196-1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.196-1G>T;ENST00000590954:exon6:c.196-1G>T;ENST00000587807:exon6:c.301-1G>T;ENST00000586262:exon4:c.183-1G>T;ENST00000587613:exon4:c.157-1G>T)	.	.	0.999994615422539	0.948
18	54291693	C	G	18	56624462	y	y	splicing	TXNL1(NM_004786:exon4:c.196-1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.196-1G>C;ENST00000590954:exon6:c.196-1G>C;ENST00000587807:exon6:c.301-1G>C;ENST00000586262:exon4:c.183-1G>C;ENST00000587613:exon4:c.157-1G>C)	.	.	0.999994615422539	0.948
18	54291693	C	T	18	56624462	y	y	splicing	TXNL1(NM_004786:exon4:c.196-1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.196-1G>A;ENST00000590954:exon6:c.196-1G>A;ENST00000587807:exon6:c.301-1G>A;ENST00000586262:exon4:c.183-1G>A;ENST00000587613:exon4:c.157-1G>A)	.	.	0.999994615422539	0.948
18	54291694	T	A	18	56624463	y	y	splicing	TXNL1(NM_004786:exon4:c.196-2A>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.196-2A>T;ENST00000590954:exon6:c.196-2A>T;ENST00000587807:exon6:c.301-2A>T;ENST00000586262:exon4:c.183-2A>T;ENST00000587613:exon4:c.157-2A>T)	.	.	0.99998570371974	0.932
18	54291694	T	C	18	56624463	y	y	splicing	TXNL1(NM_004786:exon4:c.196-2A>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.196-2A>G;ENST00000590954:exon6:c.196-2A>G;ENST00000587807:exon6:c.301-2A>G;ENST00000586262:exon4:c.183-2A>G;ENST00000587613:exon4:c.157-2A>G)	.	.	0.99998570371974	0.932
18	54291694	T	G	18	56624463	y	y	splicing	TXNL1(NM_004786:exon4:c.196-2A>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon4:c.196-2A>C;ENST00000590954:exon6:c.196-2A>C;ENST00000587807:exon6:c.301-2A>C;ENST00000586262:exon4:c.183-2A>C;ENST00000587613:exon4:c.157-2A>C)	.	.	0.99998570371974	0.932
18	54291695	A	C	18	56624464	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.998344271548593	0.812
18	54291695	A	G	18	56624464	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.28726534350025E-4	0.094
18	54291695	A	T	18	56624464	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.548592552592484	0.514
18	54291696	G	A	18	56624465	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.4171034651354E-4	0.02
18	54291696	G	C	18	56624465	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.60989862371448E-4	0.018
18	54291696	G	T	18	56624465	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00549189704554342	0.044
18	54291697	A	C	18	56624466	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999120560734963	0.936
18	54291697	A	G	18	56624466	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.719197122508693	0.376
18	54291697	A	T	18	56624466	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999389137665734	0.938
18	54291698	A	C	18	56624467	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999953424789546	0.988
18	54291698	A	G	18	56624467	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.93201371092141E-4	0.054
18	54291698	A	T	18	56624467	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.932543397282122	0.812
18	54291699	T	A	18	56624468	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.61449904476945E-5	0.024
18	54291699	T	C	18	56624468	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999657376274396	0.93
18	54291699	T	G	18	56624468	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.05888647952759E-4	0.032
18	54291700	T	A	18	56624469	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00417673632259283	0.08
18	54291700	T	C	18	56624469	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0111375236339887	0.048
18	54291700	T	G	18	56624469	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00108216732310114	0.028
18	54291701	G	A	18	56624470	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00182120304179607	0.28
18	54291701	G	C	18	56624470	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00863170442842447	0.318
18	54291701	G	T	18	56624470	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00424038536392817	0.326
18	54291702	G	A	18	56624471	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.90903508687374E-5	0.194
18	54291702	G	C	18	56624471	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0036293709662825	0.294
18	54291702	G	T	18	56624471	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00110749560566181	0.258
18	54291703	C	A	18	56624472	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00134883629630703	0.346
18	54291703	C	G	18	56624472	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.01236294398629E-4	0.324
18	54291703	C	T	18	56624472	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0013679121829436	0.18
18	54291704	A	C	18	56624473	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.99958443885582	0.9
18	54291704	A	G	18	56624473	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.228005894679174	0.466
18	54291704	A	T	18	56624473	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999985095260251	0.974
18	54293385	A	C	18	56626154	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.78801534976706E-5	0.0
18	54293385	A	G	18	56626154	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.78801534976706E-5	0.0
18	54293385	A	T	18	56626154	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.78801534976706E-5	0.0
18	54293386	T	A	18	56626155	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.16299697617339E-4	0.012
18	54293386	T	C	18	56626155	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.29559784397415E-5	0.0
18	54293386	T	G	18	56626155	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.29559784397415E-5	0.0
18	54293387	A	C	18	56626156	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.12064332043973E-4	0.066
18	54293387	A	G	18	56626156	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.12064332043973E-4	0.026
18	54293387	A	T	18	56626156	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.45031001704681E-4	0.008
18	54293388	C	A	18	56626157	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.41539715814869E-4	0.008
18	54293388	C	G	18	56626157	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.03419571978315E-4	0.028
18	54293388	C	T	18	56626157	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.20688792087982E-4	0.006
18	54293389	A	C	18	56626158	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0222254700133601	0.39
18	54293389	A	G	18	56626158	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0222254700133601	0.382
18	54293389	A	T	18	56626158	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0369097301111193	0.48
18	54293390	A	C	18	56626159	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0161472842360854	0.23
18	54293390	A	G	18	56626159	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0161472842360854	0.218
18	54293390	A	T	18	56626159	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0222254700133601	0.386
18	54293391	A	C	18	56626160	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.300+2T>G)	.	.	0.432280797039901	0.724
18	54293391	A	G	18	56626160	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.300+2T>C)	.	.	0.432280797039901	0.726
18	54293391	A	T	18	56626160	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.300+2T>A)	.	.	0.432280797039901	0.71
18	54293392	C	A	18	56626161	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.300+1G>T)	.	.	1.15913973382954E-5	0.024
18	54293392	C	G	18	56626161	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.300+1G>C)	.	.	4.22275348994767E-5	0.056
18	54293392	C	T	18	56626161	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.300+1G>A)	.	.	1.15913973382954E-5	0.024
18	54293393	C	A	18	56626162	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	3.08821754560775E-4	0.008
18	54293393	C	G	18	56626162	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	3.41406964667218E-4	0.01
18	54293393	C	T	18	56626162	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	3.08821754560775E-4	0.008
18	54293394	T	A	18	56626163	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	5.13889295159341E-4	0.016
18	54293394	T	C	18	56626163	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	1.66802757202875E-4	0.0
18	54293394	T	G	18	56626163	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	1.66802757202875E-4	0.0
18	54293395	G	A	18	56626164	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	1.44682472353823E-4	0.0
18	54293395	G	C	18	56626164	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	1.05309614883202E-4	0.0
18	54293395	G	T	18	56626164	n	y	intronic	TXNL1	.	.	UTR5;UTR3	ENSG00000091164;ENSG00000091164	.	.	1.05309614883202E-4	0.0
18	54293496	T	A	18	56626265	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587807:exon4:c.A197T:p.Y66F;	1.35516193859006E-4	0.0
18	54293496	T	C	18	56626265	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587807:exon4:c.A197G:p.Y66C;	1.49817874025862E-4	0.0
18	54293496	T	G	18	56626265	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587807:exon4:c.A197C:p.Y66S;	1.49817874025862E-4	0.0
18	54293497	A	C	18	56626266	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587807:exon4:c.T196G:p.Y66D;	7.76074896990115E-5	0.002
18	54293497	A	G	18	56626266	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587807:exon4:c.T196C:p.Y66H;	8.55453923326756E-5	0.002
18	54293497	A	T	18	56626266	n	y	intronic	TXNL1	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587807:exon4:c.T196A:p.Y66N;	1.03743324618895E-4	0.002
18	54293498	C	A	18	56626267	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.196-1G>T)	.	.	2.34097625724401E-4	0.058
18	54293498	C	G	18	56626267	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.196-1G>C)	.	.	2.34097625724401E-4	0.086
18	54293498	C	T	18	56626267	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.196-1G>A)	.	.	8.20441237158893E-5	0.056
18	54293499	T	A	18	56626268	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.196-2A>T)	.	.	2.32843808885116E-4	0.062
18	54293499	T	C	18	56626268	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.196-2A>G)	.	.	2.32843808885116E-4	0.016
18	54293499	T	G	18	56626268	n	y	intronic	TXNL1	.	.	splicing	ENSG00000091164(ENST00000587807:exon5:c.196-2A>C)	.	.	2.32843808885116E-4	0.04
18	54293500	A	C	18	56626269	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.77945247904412E-4	0.0
18	54293500	A	G	18	56626269	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.77945247904412E-4	0.0
18	54293500	A	T	18	56626269	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.77945247904412E-4	0.0
18	54293501	T	A	18	56626270	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	9.55800806316548E-5	0.002
18	54293501	T	C	18	56626270	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.05356074481699E-4	0.002
18	54293501	T	G	18	56626270	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.05356074481699E-4	0.002
18	54293502	G	A	18	56626271	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.76074896990115E-5	0.002
18	54293502	G	C	18	56626271	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.55453923326756E-5	0.002
18	54293502	G	T	18	56626271	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.55453923326756E-5	0.0
18	54293503	T	A	18	56626272	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.79113548118398E-4	0.066
18	54293503	T	C	18	56626272	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.96107735223624E-4	0.092
18	54293503	T	G	18	56626272	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.96107735223624E-4	0.068
18	54293504	G	A	18	56626273	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.45495379120052E-4	0.0
18	54293504	G	C	18	56626273	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.5982790009972E-4	0.0
18	54293504	G	T	18	56626273	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.5982790009972E-4	0.006
18	54293505	C	A	18	56626274	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.59226171300697E-4	0.002
18	54293505	C	G	18	56626274	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.76029639674976E-4	0.008
18	54293505	C	T	18	56626274	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.59226171300697E-4	0.002
18	54293506	A	C	18	56626275	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.832171914305759	0.766
18	54293506	A	G	18	56626275	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.832171914305759	0.766
18	54293506	A	T	18	56626275	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.829891661618527	0.794
18	54293507	T	A	18	56626276	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.01599285357161E-4	0.176
18	54293507	T	C	18	56626276	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.01599285357161E-4	0.114
18	54293507	T	G	18	56626276	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.01599285357161E-4	0.116
18	54293508	C	A	18	56626277	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.65296162119909E-5	0.018
18	54293508	C	G	18	56626277	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.65296162119909E-5	0.02
18	54293508	C	T	18	56626277	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.87919357652365E-5	0.022
18	54293509	A	C	18	56626278	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.47503372442534E-5	0.134
18	54293509	A	G	18	56626278	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.47503372442534E-5	0.134
18	54293509	A	T	18	56626278	n	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.47503372442534E-5	0.162
18	54293584	T	A	18	56626353	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00106472840520139	0.0
18	54293584	T	C	18	56626353	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.90960333523333E-4	0.004
18	54293584	T	G	18	56626353	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00185191187136959	0.004
18	54293585	C	A	18	56626354	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	9.27237026149931E-5	0.004
18	54293585	C	G	18	56626354	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.75538498902536E-5	0.0
18	54293585	C	T	18	56626354	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.75538498902536E-5	0.0
18	54293586	C	A	18	56626355	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.9033259423226E-5	0.0
18	54293586	C	G	18	56626355	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.71992309796578E-4	0.012
18	54293586	C	T	18	56626355	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.09609766637702E-4	0.0
18	54293587	C	A	18	56626356	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.481299216912975	0.514
18	54293587	C	G	18	56626356	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.333216443604385	0.5
18	54293587	C	T	18	56626356	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.570453291586626	0.634
18	54293588	T	A	18	56626357	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.274059147471035	0.296
18	54293588	T	C	18	56626357	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.604324308128729	0.424
18	54293588	T	G	18	56626357	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0935358117980724	0.242
18	54293589	T	A	18	56626358	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.993852423635073	0.668
18	54293589	T	C	18	56626358	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.141138466082536	0.186
18	54293589	T	G	18	56626358	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.981453908170789	0.662
18	54293590	A	C	18	56626359	y	y	splicing	TXNL1(NM_004786:exon3:c.195+2T>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.195+2T>G;ENST00000590954:exon5:c.195+2T>G;ENST00000587807:exon4:c.195+2T>G;ENST00000586262:exon3:c.182+2T>G;ENST00000587613:exon3:c.156+2T>G)	.	.	0.999989917668626	0.926
18	54293590	A	G	18	56626359	y	y	splicing	TXNL1(NM_004786:exon3:c.195+2T>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.195+2T>C;ENST00000590954:exon5:c.195+2T>C;ENST00000587807:exon4:c.195+2T>C;ENST00000586262:exon3:c.182+2T>C;ENST00000587613:exon3:c.156+2T>C)	.	.	0.986528855787127	0.604
18	54293590	A	T	18	56626359	y	y	splicing	TXNL1(NM_004786:exon3:c.195+2T>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.195+2T>A;ENST00000590954:exon5:c.195+2T>A;ENST00000587807:exon4:c.195+2T>A;ENST00000586262:exon3:c.182+2T>A;ENST00000587613:exon3:c.156+2T>A)	.	.	0.999989917668626	0.926
18	54293591	C	A	18	56626360	y	y	splicing	TXNL1(NM_004786:exon3:c.195+1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.195+1G>T;ENST00000590954:exon5:c.195+1G>T;ENST00000587807:exon4:c.195+1G>T;ENST00000586262:exon3:c.182+1G>T;ENST00000587613:exon3:c.156+1G>T)	.	.	0.999985532734767	0.936
18	54293591	C	G	18	56626360	y	y	splicing	TXNL1(NM_004786:exon3:c.195+1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.195+1G>C;ENST00000590954:exon5:c.195+1G>C;ENST00000587807:exon4:c.195+1G>C;ENST00000586262:exon3:c.182+1G>C;ENST00000587613:exon3:c.156+1G>C)	.	.	0.999985532734767	0.936
18	54293591	C	T	18	56626360	y	y	splicing	TXNL1(NM_004786:exon3:c.195+1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.195+1G>A;ENST00000590954:exon5:c.195+1G>A;ENST00000587807:exon4:c.195+1G>A;ENST00000586262:exon3:c.182+1G>A;ENST00000587613:exon3:c.156+1G>A)	.	.	0.999985532734767	0.936
18	54293592	C	A	18	56626361	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.G195T:p.Q65H;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.G195T:p.Q65H;ENSG00000091164:ENST00000587807:exon3:c.G195T:p.Q65H;ENSG00000091164:ENST00000217515:exon2:c.G195T:p.Q65H;ENSG00000091164:ENST00000587613:exon2:c.G156T:p.Q52H;	0.99852327038531	0.95
18	54293592	C	G	18	56626361	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.G195C:p.Q65H;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.G195C:p.Q65H;ENSG00000091164:ENST00000587807:exon3:c.G195C:p.Q65H;ENSG00000091164:ENST00000217515:exon2:c.G195C:p.Q65H;ENSG00000091164:ENST00000587613:exon2:c.G156C:p.Q52H;	0.999496646730039	0.968
18	54293592	C	T	18	56626361	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon2:c.G195A:p.Q65Q;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.G195A:p.Q65Q;ENSG00000091164:ENST00000587807:exon3:c.G195A:p.Q65Q;ENSG00000091164:ENST00000217515:exon2:c.G195A:p.Q65Q;ENSG00000091164:ENST00000587613:exon2:c.G156A:p.Q52Q;	0.984532183063146	0.944
18	54293593	T	A	18	56626362	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.A194T:p.Q65L;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.A194T:p.Q65L;ENSG00000091164:ENST00000587807:exon3:c.A194T:p.Q65L;ENSG00000091164:ENST00000217515:exon2:c.A194T:p.Q65L;ENSG00000091164:ENST00000587613:exon2:c.A155T:p.Q52L;	0.992604423201302	0.662
18	54293593	T	C	18	56626362	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.A194G:p.Q65R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.A194G:p.Q65R;ENSG00000091164:ENST00000587807:exon3:c.A194G:p.Q65R;ENSG00000091164:ENST00000217515:exon2:c.A194G:p.Q65R;ENSG00000091164:ENST00000587613:exon2:c.A155G:p.Q52R;	0.991764675734024	0.966
18	54293593	T	G	18	56626362	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.A194C:p.Q65P;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.A194C:p.Q65P;ENSG00000091164:ENST00000587807:exon3:c.A194C:p.Q65P;ENSG00000091164:ENST00000217515:exon2:c.A194C:p.Q65P;ENSG00000091164:ENST00000587613:exon2:c.A155C:p.Q52P;	0.893526309185111	0.694
18	54293594	G	A	18	56626363	y	y	exonic	TXNL1	stopgain SNV	TXNL1:NM_004786:exon2:c.C193T:p.Q65X;	exonic	ENSG00000091164	stopgain SNV	ENSG00000091164:ENST00000590954:exon4:c.C193T:p.Q65X;ENSG00000091164:ENST00000587807:exon3:c.C193T:p.Q65X;ENSG00000091164:ENST00000217515:exon2:c.C193T:p.Q65X;ENSG00000091164:ENST00000587613:exon2:c.C154T:p.Q52X;	0.996777440304101	0.796
18	54293594	G	C	18	56626363	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.C193G:p.Q65E;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.C193G:p.Q65E;ENSG00000091164:ENST00000587807:exon3:c.C193G:p.Q65E;ENSG00000091164:ENST00000217515:exon2:c.C193G:p.Q65E;ENSG00000091164:ENST00000587613:exon2:c.C154G:p.Q52E;	0.558791758568701	0.38
18	54293594	G	T	18	56626363	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.C193A:p.Q65K;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.C193A:p.Q65K;ENSG00000091164:ENST00000587807:exon3:c.C193A:p.Q65K;ENSG00000091164:ENST00000217515:exon2:c.C193A:p.Q65K;ENSG00000091164:ENST00000587613:exon2:c.C154A:p.Q52K;	0.88743158481179	0.692
18	54293687	A	C	18	56626456	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.T100G:p.C34G;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.T100G:p.C34G;ENSG00000091164:ENST00000587807:exon3:c.T100G:p.C34G;ENSG00000091164:ENST00000217515:exon2:c.T100G:p.C34G;ENSG00000091164:ENST00000587613:exon2:c.T61G:p.C21G;	0.00349100162335466	0.054
18	54293687	A	G	18	56626456	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.T100C:p.C34R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.T100C:p.C34R;ENSG00000091164:ENST00000587807:exon3:c.T100C:p.C34R;ENSG00000091164:ENST00000217515:exon2:c.T100C:p.C34R;ENSG00000091164:ENST00000587613:exon2:c.T61C:p.C21R;	0.00344979296202724	0.072
18	54293687	A	T	18	56626456	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon2:c.T100A:p.C34S;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.T100A:p.C34S;ENSG00000091164:ENST00000587807:exon3:c.T100A:p.C34S;ENSG00000091164:ENST00000217515:exon2:c.T100A:p.C34S;ENSG00000091164:ENST00000587613:exon2:c.T61A:p.C21S;	0.00450566484823074	0.042
18	54293688	C	A	18	56626457	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon2:c.G99T:p.G33G;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon2:c.G60T:p.R20S;	0.0293126196105733	0.42
18	54293688	C	G	18	56626457	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon2:c.G99C:p.G33G;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon2:c.G60C:p.R20S;	6.50455510585798E-4	0.362
18	54293688	C	T	18	56626457	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon2:c.G99A:p.G33G;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon4:c.G99A:p.G33G;ENSG00000091164:ENST00000587807:exon3:c.G99A:p.G33G;ENSG00000091164:ENST00000217515:exon2:c.G99A:p.G33G;ENSG00000091164:ENST00000587613:exon2:c.G60A:p.R20R;	1.23096220582177E-4	0.204
18	54293689	C	A	18	56626458	y	y	splicing	TXNL1(NM_004786:exon3:c.99-1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.99-1G>T;ENST00000590954:exon5:c.99-1G>T;ENST00000587807:exon4:c.99-1G>T;ENST00000586262:exon3:c.86-1G>T;ENST00000587613:exon3:c.60-1G>T)	.	.	0.999956786857988	0.938
18	54293689	C	G	18	56626458	y	y	splicing	TXNL1(NM_004786:exon3:c.99-1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.99-1G>C;ENST00000590954:exon5:c.99-1G>C;ENST00000587807:exon4:c.99-1G>C;ENST00000586262:exon3:c.86-1G>C;ENST00000587613:exon3:c.60-1G>C)	.	.	0.999956786857988	0.936
18	54293689	C	T	18	56626458	y	y	splicing	TXNL1(NM_004786:exon3:c.99-1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.99-1G>A;ENST00000590954:exon5:c.99-1G>A;ENST00000587807:exon4:c.99-1G>A;ENST00000586262:exon3:c.86-1G>A;ENST00000587613:exon3:c.60-1G>A)	.	.	0.999956786857988	0.938
18	54293690	T	A	18	56626459	y	y	splicing	TXNL1(NM_004786:exon3:c.99-2A>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.99-2A>T;ENST00000590954:exon5:c.99-2A>T;ENST00000587807:exon4:c.99-2A>T;ENST00000586262:exon3:c.86-2A>T;ENST00000587613:exon3:c.60-2A>T)	.	.	0.99984060222425	0.75
18	54293690	T	C	18	56626459	y	y	splicing	TXNL1(NM_004786:exon3:c.99-2A>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.99-2A>G;ENST00000590954:exon5:c.99-2A>G;ENST00000587807:exon4:c.99-2A>G;ENST00000586262:exon3:c.86-2A>G;ENST00000587613:exon3:c.60-2A>G)	.	.	0.999855606898996	0.752
18	54293690	T	G	18	56626459	y	y	splicing	TXNL1(NM_004786:exon3:c.99-2A>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon3:c.99-2A>C;ENST00000590954:exon5:c.99-2A>C;ENST00000587807:exon4:c.99-2A>C;ENST00000586262:exon3:c.86-2A>C;ENST00000587613:exon3:c.60-2A>C)	.	.	0.999855606898996	0.752
18	54293691	G	A	18	56626460	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.6299939397623E-4	0.084
18	54293691	G	C	18	56626460	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.994921723930504	0.694
18	54293691	G	T	18	56626460	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.253860249755675	0.382
18	54293692	T	A	18	56626461	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.62419239107778E-4	0.024
18	54293692	T	C	18	56626461	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.792217420184849	0.648
18	54293692	T	G	18	56626461	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.08220540723994E-4	0.006
18	54293693	T	A	18	56626462	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.26848964498332E-5	0.0
18	54293693	T	C	18	56626462	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.69673633934422E-5	0.0
18	54293693	T	G	18	56626462	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.40173270250616E-6	0.0
18	54293694	A	C	18	56626463	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.0011039473622451	0.126
18	54293694	A	G	18	56626463	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.86573861717849E-5	0.0
18	54293694	A	T	18	56626463	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.48243735248016E-4	0.026
18	54293695	G	A	18	56626464	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.60745993545955E-5	0.0
18	54293695	G	C	18	56626464	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.28555328216696E-4	0.044
18	54293695	G	T	18	56626464	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.13743983936452E-4	0.1
18	54293696	A	C	18	56626465	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.46891707828345E-4	0.074
18	54293696	A	G	18	56626465	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.24668278062172E-5	0.0
18	54293696	A	T	18	56626465	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.58702043632325E-4	0.012
18	54293697	A	C	18	56626466	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.52136605824246E-4	0.134
18	54293697	A	G	18	56626466	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.2527025145314E-4	0.008
18	54293697	A	T	18	56626466	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.88902707266388E-4	0.164
18	54293698	A	C	18	56626467	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.66637379056314E-5	0.062
18	54293698	A	G	18	56626467	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	6.70774026548512E-5	0.004
18	54293698	A	T	18	56626467	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.83209679796676E-4	0.062
18	54293699	A	C	18	56626468	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.43968660060313E-4	0.134
18	54293699	A	G	18	56626468	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.47760652422704E-5	0.026
18	54293699	A	T	18	56626468	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	9.57606556132016E-5	0.112
18	54293700	G	A	18	56626469	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.39807525882109E-5	0.0
18	54293700	G	C	18	56626469	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	7.64236828634193E-5	0.002
18	54293700	G	T	18	56626469	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.81663649980681E-5	0.004
18	54305566	G	A	18	56638335	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.69365264779748E-4	0.06
18	54305566	G	C	18	56638335	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.17158332379314E-4	0.06
18	54305566	G	T	18	56638335	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.26759889341529E-4	0.046
18	54305567	G	A	18	56638336	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00331180104449001	0.064
18	54305567	G	C	18	56638336	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.3409013379947E-4	0.03
18	54305567	G	T	18	56638336	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00370905030805929	0.018
18	54305568	C	A	18	56638337	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.28066716951324E-4	0.006
18	54305568	C	G	18	56638337	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.85801665650223E-4	0.148
18	54305568	C	T	18	56638337	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.00150809521430824	0.012
18	54305569	C	A	18	56638338	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999959788654459	0.954
18	54305569	C	G	18	56638338	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999849407629983	0.982
18	54305569	C	T	18	56638338	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999962464662948	0.998
18	54305570	T	A	18	56638339	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999913061104075	0.958
18	54305570	T	C	18	56638339	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.999541454974919	0.97
18	54305570	T	G	18	56638339	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.998775057760138	0.932
18	54305571	C	A	18	56638340	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.990539182282209	0.78
18	54305571	C	G	18	56638340	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	0.972652637332023	0.792
18	54305571	C	T	18	56638340	y	y	intronic	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.70826841487842E-4	0.058
18	54305572	A	C	18	56638341	y	y	splicing	TXNL1(NM_004786:exon2:c.98+2T>G)	.	.	splicing	ENSG00000091164(ENST00000217515:exon2:c.98+2T>G;ENST00000590954:exon4:c.98+2T>G;ENST00000587807:exon3:c.98+2T>G;ENST00000586262:exon2:c.85+2T>G)	.	.	0.999993519952936	0.948
18	54305572	A	G	18	56638341	y	y	splicing	TXNL1(NM_004786:exon2:c.98+2T>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon2:c.98+2T>C;ENST00000590954:exon4:c.98+2T>C;ENST00000587807:exon3:c.98+2T>C;ENST00000586262:exon2:c.85+2T>C)	.	.	0.999987481197675	0.954
18	54305572	A	T	18	56638341	y	y	splicing	TXNL1(NM_004786:exon2:c.98+2T>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon2:c.98+2T>A;ENST00000590954:exon4:c.98+2T>A;ENST00000587807:exon3:c.98+2T>A;ENST00000586262:exon2:c.85+2T>A)	.	.	0.999993519952936	0.948
18	54305573	C	A	18	56638342	y	y	splicing	TXNL1(NM_004786:exon2:c.98+1G>T)	.	.	splicing	ENSG00000091164(ENST00000217515:exon2:c.98+1G>T;ENST00000590954:exon4:c.98+1G>T;ENST00000587807:exon3:c.98+1G>T;ENST00000586262:exon2:c.85+1G>T)	.	.	0.999988247793601	0.944
18	54305573	C	G	18	56638342	y	y	splicing	TXNL1(NM_004786:exon2:c.98+1G>C)	.	.	splicing	ENSG00000091164(ENST00000217515:exon2:c.98+1G>C;ENST00000590954:exon4:c.98+1G>C;ENST00000587807:exon3:c.98+1G>C;ENST00000586262:exon2:c.85+1G>C)	.	.	0.999988247793601	0.944
18	54305573	C	T	18	56638342	y	y	splicing	TXNL1(NM_004786:exon2:c.98+1G>A)	.	.	splicing	ENSG00000091164(ENST00000217515:exon2:c.98+1G>A;ENST00000590954:exon4:c.98+1G>A;ENST00000587807:exon3:c.98+1G>A;ENST00000586262:exon2:c.85+1G>A)	.	.	0.999988247793601	0.944
18	54305574	C	A	18	56638343	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon1:c.G98T:p.G33V;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.G98T:p.G33V;ENSG00000091164:ENST00000587807:exon2:c.G98T:p.G33V;ENSG00000091164:ENST00000217515:exon1:c.G98T:p.G33V;	0.999971844459949	0.998
18	54305574	C	G	18	56638343	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon1:c.G98C:p.G33A;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.G98C:p.G33A;ENSG00000091164:ENST00000587807:exon2:c.G98C:p.G33A;ENSG00000091164:ENST00000217515:exon1:c.G98C:p.G33A;	0.999992433977935	0.994
18	54305574	C	T	18	56638343	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon1:c.G98A:p.G33E;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.G98A:p.G33E;ENSG00000091164:ENST00000587807:exon2:c.G98A:p.G33E;ENSG00000091164:ENST00000217515:exon1:c.G98A:p.G33E;	0.999994548463442	0.996
18	54305575	C	A	18	56638344	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon1:c.G97T:p.G33W;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.G97T:p.G33W;ENSG00000091164:ENST00000587807:exon2:c.G97T:p.G33W;ENSG00000091164:ENST00000217515:exon1:c.G97T:p.G33W;	0.00201002049290731	0.024
18	54305575	C	G	18	56638344	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon1:c.G97C:p.G33R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.G97C:p.G33R;ENSG00000091164:ENST00000587807:exon2:c.G97C:p.G33R;ENSG00000091164:ENST00000217515:exon1:c.G97C:p.G33R;	0.975751207250208	0.796
18	54305575	C	T	18	56638344	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon1:c.G97A:p.G33R;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.G97A:p.G33R;ENSG00000091164:ENST00000587807:exon2:c.G97A:p.G33R;ENSG00000091164:ENST00000217515:exon1:c.G97A:p.G33R;	0.903373987745924	0.544
18	54305576	T	A	18	56638345	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon1:c.A96T:p.R32S;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.A96T:p.R32S;ENSG00000091164:ENST00000587807:exon2:c.A96T:p.R32S;ENSG00000091164:ENST00000217515:exon1:c.A96T:p.R32S;	0.0336031315166046	0.222
18	54305576	T	C	18	56638345	y	y	exonic	TXNL1	synonymous SNV	TXNL1:NM_004786:exon1:c.A96G:p.R32R;	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.A96G:p.R32R;ENSG00000091164:ENST00000587807:exon2:c.A96G:p.R32R;ENSG00000091164:ENST00000217515:exon1:c.A96G:p.R32R;	0.00196370686784924	0.266
18	54305576	T	G	18	56638345	y	y	exonic	TXNL1	nonsynonymous SNV	TXNL1:NM_004786:exon1:c.A96C:p.R32S;	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000590954:exon3:c.A96C:p.R32S;ENSG00000091164:ENST00000587807:exon2:c.A96C:p.R32S;ENSG00000091164:ENST00000217515:exon1:c.A96C:p.R32S;	2.61590931285815E-4	0.074
18	54305735	A	C	18	56638504	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.69844050747639E-4	0.0
18	54305735	A	G	18	56638504	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.69844050747639E-4	0.0
18	54305735	A	T	18	56638504	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	3.39979471152661E-4	0.032
18	54305736	T	A	18	56638505	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.00148997643306E-5	0.004
18	54305736	T	C	18	56638505	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.52937133335802E-5	0.002
18	54305736	T	G	18	56638505	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.52937133335802E-5	0.002
18	54305737	C	A	18	56638506	n	y	UTR5	TXNL1	.	.	splicing	ENSG00000091164	.	.	3.13793253398579E-4	0.008
18	54305737	C	G	18	56638506	n	y	UTR5	TXNL1	.	.	splicing	ENSG00000091164	.	.	3.13793253398579E-4	0.008
18	54305737	C	T	18	56638506	n	y	UTR5	TXNL1	.	.	splicing	ENSG00000091164	.	.	3.13793253398579E-4	0.008
18	54305738	T	A	18	56638507	n	y	UTR5	TXNL1	.	.	splicing	ENSG00000091164	.	.	5.00148997643306E-5	0.0
18	54305738	T	C	18	56638507	n	y	UTR5	TXNL1	.	.	splicing	ENSG00000091164	.	.	5.00148997643306E-5	0.004
18	54305738	T	G	18	56638507	n	y	UTR5	TXNL1	.	.	splicing	ENSG00000091164	.	.	5.00148997643306E-5	0.002
18	54305739	G	A	18	56638508	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.71406022660188E-5	0.0
18	54305739	G	C	18	56638508	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	6.31714493073847E-5	0.0
18	54305739	G	T	18	56638508	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.71406022660188E-5	0.0
18	54305740	G	A	18	56638509	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.06838431523089E-4	0.006
18	54305740	G	C	18	56638509	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.18113966081056E-4	0.002
18	54305740	G	T	18	56638509	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.18113966081056E-4	0.002
18	54305741	G	A	18	56638510	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	0.00188193736574348	0.114
18	54305741	G	C	18	56638510	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	0.00135953245195229	0.034
18	54305741	G	T	18	56638510	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	0.00188193736574348	0.134
18	54305742	A	C	18	56638511	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.99199617690849E-4	0.0
18	54305742	A	G	18	56638511	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.99199617690849E-4	0.0
18	54305742	A	T	18	56638511	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.80184784067125E-4	0.0
18	54305743	G	A	18	56638512	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.93217030321477E-4	0.006
18	54305743	G	C	18	56638512	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.93217030321477E-4	0.004
18	54305743	G	T	18	56638512	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.93217030321477E-4	0.004
18	54305744	A	C	18	56638513	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.26956592469941E-4	0.0
18	54305744	A	G	18	56638513	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.26956592469941E-4	0.0
18	54305744	A	T	18	56638513	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.1483700964636E-4	0.0
18	54305745	G	A	18	56638514	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	0.00188193736574348	0.032
18	54305745	G	C	18	56638514	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	0.00115128744468825	0.0
18	54305745	G	T	18	56638514	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	0.00114257480576235	0.004
18	54305746	G	A	18	56638515	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.65230034870006E-4	0.01
18	54305746	G	C	18	56638515	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.93217030321477E-4	0.004
18	54305746	G	T	18	56638515	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.93217030321477E-4	0.004
18	54305747	A	C	18	56638516	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	3.14992400490621E-4	0.0
18	54305747	A	G	18	56638516	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	3.14992400490621E-4	0.0
18	54305747	A	T	18	56638516	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	3.14992400490621E-4	0.0
18	54305748	A	C	18	56638517	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.78200748565253E-4	0.0
18	54305748	A	G	18	56638517	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.78200748565253E-4	0.0
18	54305748	A	T	18	56638517	n	y	UTR5	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.78200748565253E-4	0.0
18	54306185	C	A	18	56638954	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	8.3500733371869E-5	0.002
18	54306185	C	G	18	56638954	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.11657407965104E-4	0.008
18	54306185	C	T	18	56638954	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	8.3500733371869E-5	0.0
18	54306186	G	A	18	56638955	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	7.04278140930798E-5	0.038
18	54306186	G	C	18	56638955	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	6.38113264713725E-5	0.038
18	54306186	G	T	18	56638955	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	7.04278140930798E-5	0.038
18	54306187	T	A	18	56638956	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	7.47525533433289E-5	0.0
18	54306187	T	C	18	56638956	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	7.47525533433289E-5	0.0
18	54306187	T	G	18	56638956	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	7.47525533433289E-5	0.0
18	54306188	T	A	18	56638957	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.69439264402225E-5	0.002
18	54306188	T	C	18	56638957	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.69439264402225E-5	0.002
18	54306188	T	G	18	56638957	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.69439264402225E-5	0.002
18	54306189	T	A	18	56638958	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	6.67601383604536E-5	0.002
18	54306189	T	C	18	56638958	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.48767623678578E-5	0.002
18	54306189	T	G	18	56638958	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	2.48767623678578E-5	0.002
18	54306190	T	A	18	56638959	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	1.4916954340738E-4	0.008
18	54306190	T	C	18	56638959	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	9.11159464097565E-5	0.006
18	54306190	T	G	18	56638959	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	9.11159464097565E-5	0.006
18	54306191	A	C	18	56638960	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	6.03514948879293E-5	0.002
18	54306191	A	G	18	56638960	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	6.03514948879293E-5	0.002
18	54306191	A	T	18	56638960	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	6.03514948879293E-5	0.002
18	54306192	C	A	18	56638961	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	3.93972165730067E-5	0.0
18	54306192	C	G	18	56638961	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	3.93972165730067E-5	0.0
18	54306192	C	T	18	56638961	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	3.93972165730067E-5	0.0
18	54306193	C	A	18	56638962	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	4.90028566392549E-5	0.002
18	54306193	C	G	18	56638962	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	4.90028566392549E-5	0.002
18	54306193	C	T	18	56638962	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	4.90028566392549E-5	0.002
18	54306194	C	A	18	56638963	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	7.85892088628007E-5	0.038
18	54306194	C	G	18	56638963	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	7.85892088628007E-5	0.038
18	54306194	C	T	18	56638963	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	7.85892088628007E-5	0.038
18	54306195	C	A	18	56638964	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	6.47413882681639E-5	0.002
18	54306195	C	G	18	56638964	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	6.47413882681639E-5	0.0
18	54306195	C	T	18	56638964	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	6.47413882681639E-5	0.0
18	54306269	G	A	18	56639038	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	8.53292460361593E-5	0.016
18	54306269	G	C	18	56639038	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	4.10529984002121E-5	0.012
18	54306269	G	T	18	56639038	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	8.53292460361593E-5	0.018
18	54306270	T	A	18	56639039	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.15941453541388E-5	0.008
18	54306270	T	C	18	56639039	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.15941453541388E-5	0.006
18	54306270	T	G	18	56639039	n	y	upstream	TXNL1	.	.	UTR5	ENSG00000091164	.	.	5.15941453541388E-5	0.004
18	54306271	C	A	18	56639040	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	3.57076726553018E-5	0.004
18	54306271	C	G	18	56639040	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	4.7749166663215E-5	0.002
18	54306271	C	T	18	56639040	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	3.57076726553018E-5	0.0
18	54306272	T	A	18	56639041	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	1.80274866394675E-5	0.0
18	54306272	T	C	18	56639041	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	1.80274866394675E-5	0.0
18	54306272	T	G	18	56639041	n	y	upstream	TXNL1	.	.	splicing	ENSG00000091164	.	.	1.80274866394675E-5	0.0
18	54306273	A	C	18	56639042	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.45277156108894E-5	0.002
18	54306273	A	G	18	56639042	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.45277156108894E-5	0.002
18	54306273	A	T	18	56639042	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.78864525412067E-5	0.002
18	54306274	C	A	18	56639043	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.01163773767764E-5	0.0
18	54306274	C	G	18	56639043	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.01163773767764E-5	0.0
18	54306274	C	T	18	56639043	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.71037690926497E-5	0.0
18	54306275	A	C	18	56639044	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.02476850624347E-5	0.004
18	54306275	A	G	18	56639044	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.02476850624347E-5	0.004
18	54306275	A	T	18	56639044	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.02476850624347E-5	0.004
18	54306276	T	A	18	56639045	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.15941453541388E-5	0.004
18	54306276	T	C	18	56639045	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.15941453541388E-5	0.004
18	54306276	T	G	18	56639045	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.15941453541388E-5	0.004
18	54306277	A	C	18	56639046	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.53814986019981E-5	0.0
18	54306277	A	G	18	56639046	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.53814986019981E-5	0.0
18	54306277	A	T	18	56639046	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	8.24824353344448E-5	0.0
18	54306278	C	A	18	56639047	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.14301101535901E-5	0.004
18	54306278	C	G	18	56639047	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.14301101535901E-5	0.004
18	54306278	C	T	18	56639047	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	4.47039489069415E-5	0.006
18	54306279	A	C	18	56639048	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.28134029491298E-5	0.0
18	54306279	A	G	18	56639048	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.28134029491298E-5	0.0
18	54306279	A	T	18	56639048	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.9057330508269E-5	0.0
18	54306280	A	C	18	56639049	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.45427510716187E-4	0.004
18	54306280	A	G	18	56639049	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	2.45427510716187E-4	0.002
18	54306280	A	T	18	56639049	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	1.1189536267874E-4	0.0
18	54306281	G	A	18	56639050	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.39457982047225E-5	0.0
18	54306281	G	C	18	56639050	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.27663100932972E-5	0.0
18	54306281	G	T	18	56639050	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	3.27663100932972E-5	0.0
18	54306282	A	C	18	56639051	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.15941453541388E-5	0.002
18	54306282	A	G	18	56639051	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.15941453541388E-5	0.002
18	54306282	A	T	18	56639051	n	y	upstream	TXNL1	.	.	intronic	ENSG00000091164	.	.	5.15941453541388E-5	0.0
18	54318240	T	A	18	56651009	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	1.06407420733308E-4	0.006
18	54318240	T	C	18	56651009	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	5.85455578184536E-5	0.004
18	54318240	T	G	18	56651009	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	5.85455578184536E-5	0.004
18	54318241	T	A	18	56651010	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	3.23892897236096E-4	0.006
18	54318241	T	C	18	56651010	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	3.23892897236096E-4	0.006
18	54318241	T	G	18	56651010	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	3.23892897236096E-4	0.006
18	54318242	C	A	18	56651011	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	9.72760553213487E-5	0.0
18	54318242	C	G	18	56651011	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	4.09828708177445E-5	0.0
18	54318242	C	T	18	56651011	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	9.72760553213487E-5	0.0
18	54318243	C	A	18	56651012	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	2.59802355779309E-5	0.0
18	54318243	C	G	18	56651012	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	2.59802355779309E-5	0.0
18	54318243	C	T	18	56651012	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	2.80332477406426E-5	0.0
18	54318244	C	A	18	56651013	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	1.86431456331734E-5	0.0
18	54318244	C	G	18	56651013	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	1.86431456331734E-5	0.0
18	54318244	C	T	18	56651013	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	2.01163773767764E-5	0.0
18	54318245	T	A	18	56651014	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	2.25524929795369E-5	0.002
18	54318245	T	C	18	56651014	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	1.46004206284423E-5	0.002
18	54318245	T	G	18	56651014	n	y	upstream	WDR7	.	.	intronic	ENSG00000091164	.	.	1.46004206284423E-5	0.002
18	54318246	A	C	18	56651015	n	y	upstream	WDR7	.	.	splicing	ENSG00000091164(ENST00000587613:exon2:c.59+2T>G)	.	.	3.30338091304305E-5	0.0
18	54318246	A	G	18	56651015	n	y	upstream	WDR7	.	.	splicing	ENSG00000091164(ENST00000587613:exon2:c.59+2T>C)	.	.	3.30338091304305E-5	0.0
18	54318246	A	T	18	56651015	n	y	upstream	WDR7	.	.	splicing	ENSG00000091164(ENST00000587613:exon2:c.59+2T>A)	.	.	3.30338091304305E-5	0.0
18	54318247	C	A	18	56651016	n	y	upstream	WDR7	.	.	splicing	ENSG00000091164(ENST00000587613:exon2:c.59+1G>T)	.	.	4.52932449848953E-5	0.002
18	54318247	C	G	18	56651016	n	y	upstream	WDR7	.	.	splicing	ENSG00000091164(ENST00000587613:exon2:c.59+1G>C)	.	.	4.52932449848953E-5	0.002
18	54318247	C	T	18	56651016	n	y	upstream	WDR7	.	.	splicing	ENSG00000091164(ENST00000587613:exon2:c.59+1G>A)	.	.	4.52932449848953E-5	0.006
18	54318248	C	A	18	56651017	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.G59T:p.R20M;	4.15042193520174E-5	0.01
18	54318248	C	G	18	56651017	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.G59C:p.R20T;	4.15042193520174E-5	0.006
18	54318248	C	T	18	56651017	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.G59A:p.R20K;	3.10375415512646E-5	0.002
18	54318249	T	A	18	56651018	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.A58T:p.R20W;	3.02642503822698E-5	0.04
18	54318249	T	C	18	56651018	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.A58G:p.R20G;	3.02642503822698E-5	0.04
18	54318249	T	G	18	56651018	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.A58C:p.R20R;	3.02642503822698E-5	0.04
18	54318250	C	A	18	56651019	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.G57T:p.K19N;	2.86359644168464E-5	0.0
18	54318250	C	G	18	56651019	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	nonsynonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.G57C:p.K19N;	2.65388135286213E-5	0.0
18	54318250	C	T	18	56651019	n	y	upstream	WDR7	.	.	exonic	ENSG00000091164	synonymous SNV	ENSG00000091164:ENST00000587613:exon1:c.G57A:p.K19K;	2.86359644168464E-5	0.0
18	54318805	C	A	18	56651574	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.88963068476032	0.632
18	54318805	C	G	18	56651574	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.595097324750319	0.564
18	54318805	C	T	18	56651574	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.990177934842405	0.682
18	54318806	A	C	18	56651575	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.587053959752812	0.622
18	54318806	A	G	18	56651575	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.464944537656099	0.586
18	54318806	A	T	18	56651575	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.354466921933095	0.466
18	54318807	G	A	18	56651576	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.999314628994194	0.974
18	54318807	G	C	18	56651576	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.999720271176668	0.942
18	54318807	G	T	18	56651576	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157;ENSG00000091164	.	.	0.999274860452612	0.93
18	54318808	G	A	18	56651577	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.999993148181228	0.918
18	54318808	G	C	18	56651577	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.999993148181228	0.928
18	54318808	G	T	18	56651577	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.999993148181228	0.928
18	54318809	T	A	18	56651578	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.999981808176352	0.918
18	54318809	T	C	18	56651578	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.98098470520779	0.55
18	54318809	T	G	18	56651578	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.999981808176352	0.918
18	54318810	A	C	18	56651579	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.792072449585779	0.51
18	54318810	A	G	18	56651579	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	9.07861227789283E-4	0.06
18	54318810	A	T	18	56651579	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.725685236645302	0.472
18	54318811	A	C	18	56651580	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.152071462716876	0.328
18	54318811	A	G	18	56651580	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.807329028597631	0.448
18	54318811	A	T	18	56651580	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.694376708448088	0.398
18	54318812	G	A	18	56651581	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.850178134388294	0.526
18	54318812	G	C	18	56651581	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.347913473415676	0.45
18	54318812	G	T	18	56651581	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.668123874437736	0.452
18	54318813	G	A	18	56651582	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	2.08489113261251E-4	0.0
18	54318813	G	C	18	56651582	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	3.79123964823486E-4	0.044
18	54318813	G	T	18	56651582	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	1.11163629070869E-4	0.0
18	54318814	G	A	18	56651583	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.0590737639315875	0.272
18	54318814	G	C	18	56651583	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.0121020794022914	0.122
18	54318814	G	T	18	56651583	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	0.0179791487600225	0.156
18	54318815	G	A	18	56651584	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	1.96487052139866E-4	0.004
18	54318815	G	C	18	56651584	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	1.16919236790187E-4	0.0
18	54318815	G	T	18	56651584	y	y	intronic	WDR7	.	.	UTR5	ENSG00000091164	.	.	1.50653677819676E-4	0.004
18	54319027	C	A	18	56651796	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	9.11159464097565E-5	0.004
18	54319027	C	G	18	56651796	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	9.11159464097565E-5	0.004
18	54319027	C	T	18	56651796	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	9.11159464097565E-5	0.004
18	54319028	T	A	18	56651797	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	9.26351819982407E-5	0.002
18	54319028	T	C	18	56651797	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	6.58387015427962E-5	0.0
18	54319028	T	G	18	56651797	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	6.58387015427962E-5	0.0
18	54319029	G	A	18	56651798	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	5.69439264402225E-5	0.002
18	54319029	G	C	18	56651798	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	5.69439264402225E-5	0.002
18	54319029	G	T	18	56651798	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	5.69439264402225E-5	0.002
18	54319030	G	A	18	56651799	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	1.86764315709017E-5	0.0
18	54319030	G	C	18	56651799	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	1.86764315709017E-5	0.0
18	54319030	G	T	18	56651799	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	1.86764315709017E-5	0.0
18	54319031	T	A	18	56651800	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	6.39826558468951E-5	0.018
18	54319031	T	C	18	56651800	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	4.45170072801036E-5	0.016
18	54319031	T	G	18	56651800	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	5.92352312571765E-5	0.016
18	54319032	G	A	18	56651801	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.93338122508907E-4	0.054
18	54319032	G	C	18	56651801	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.21055804872142E-4	0.056
18	54319032	G	T	18	56651801	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.28931909661929E-4	0.056
18	54319033	A	C	18	56651802	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.40839623268995E-5	0.0
18	54319033	A	G	18	56651802	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.40839623268995E-5	0.0
18	54319033	A	T	18	56651802	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.40839623268995E-5	0.0
18	54319034	G	A	18	56651803	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.9920955617261E-4	0.006
18	54319034	G	C	18	56651803	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.06021162418853E-4	0.006
18	54319034	G	T	18	56651803	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.50781983575263E-4	0.012
18	54319035	T	A	18	56651804	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00116674076377048	0.02
18	54319035	T	C	18	56651804	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00116674076377048	0.018
18	54319035	T	G	18	56651804	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00116674076377048	0.018
18	54319036	G	A	18	56651805	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00588795299966469	0.016
18	54319036	G	C	18	56651805	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00588795299966469	0.022
18	54319036	G	T	18	56651805	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00588795299966469	0.016
18	54319037	A	C	18	56651806	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.97663794633139E-4	0.0
18	54319037	A	G	18	56651806	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.97663794633139E-4	0.0
18	54319037	A	T	18	56651806	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.88882024736292E-4	0.0
18	54339716	T	A	18	56672485	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.476583956926706	0.42
18	54339716	T	C	18	56672485	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.18263196368856E-4	0.032
18	54339716	T	G	18	56672485	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999991001052928	0.986
18	54339717	A	C	18	56672486	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.41657804491085E-5	0.004
18	54339717	A	G	18	56672486	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.48584364327705E-5	0.0
18	54339717	A	T	18	56672486	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.32421075952806E-4	0.164
18	54339718	A	C	18	56672487	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.85725219592971E-4	0.004
18	54339718	A	G	18	56672487	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99834832838548	0.982
18	54339718	A	T	18	56672487	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.32158785956097E-4	0.016
18	54339719	C	A	18	56672488	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.84470148887767E-4	0.074
18	54339719	C	G	18	56672488	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99972170363265	0.978
18	54339719	C	T	18	56672488	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.24889364023639E-4	0.004
18	54339720	A	C	18	56672489	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.35679617756044E-6	0.0
18	54339720	A	G	18	56672489	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.10577017760203E-5	0.0
18	54339720	A	T	18	56672489	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.35679617756044E-6	0.0
18	54339721	T	A	18	56672490	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0926609559091496	0.172
18	54339721	T	C	18	56672490	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.15822766385148E-4	0.024
18	54339721	T	G	18	56672490	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999891170077642	0.994
18	54339722	T	A	18	56672491	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.102593821514005	0.304
18	54339722	T	C	18	56672491	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.12461429413929E-5	0.0
18	54339722	T	G	18	56672491	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.128119833807802	0.328
18	54339723	T	A	18	56672492	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.970662441189435	0.604
18	54339723	T	C	18	56672492	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0683601673671261	0.282
18	54339723	T	G	18	56672492	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.976396791084903	0.606
18	54339724	T	A	18	56672493	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.76406679483153E-5	0.0
18	54339724	T	C	18	56672493	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.6365949388922E-5	0.0
18	54339724	T	G	18	56672493	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.08499764291871E-5	0.0
18	54339725	C	A	18	56672494	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.17621369052658	0.41
18	54339725	C	G	18	56672494	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999793584204919	0.914
18	54339725	C	T	18	56672494	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00174138915736705	0.022
18	54339726	A	C	18	56672495	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.99994568797423	0.946
18	54339726	A	G	18	56672495	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.99994568797423	0.946
18	54339726	A	T	18	56672495	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.99994568797423	0.94
18	54339727	G	A	18	56672496	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.999949496871441	0.928
18	54339727	G	C	18	56672496	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.999949496871441	0.932
18	54339727	G	T	18	56672496	y	y	splicing	WDR7	.	.	splicing	ENSG00000091157	.	.	0.999949496871441	0.932
18	54339728	G	A	18	56672497	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.374364364437225	0.38
18	54339728	G	C	18	56672497	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.758923618685718	0.8
18	54339728	G	T	18	56672497	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.756255010052526	0.734
18	54339729	T	A	18	56672498	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.0108869783946622	0.08
18	54339729	T	C	18	56672498	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.00870860294499406	0.172
18	54339729	T	G	18	56672498	y	y	UTR5	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.00398934622140243	0.18
18	54339903	C	A	18	56672672	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon2:c.C157A:p.Q53K;WDR7:NM_052834:exon2:c.C157A:p.Q53K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon2:c.C157A:p.Q53K;ENSG00000091157:ENST00000357574:exon2:c.C157A:p.Q53K;ENSG00000091157:ENST00000593058:exon2:c.C157A:p.Q53K;	1.89268583677942E-5	0.126
18	54339903	C	G	18	56672672	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon2:c.C157G:p.Q53E;WDR7:NM_052834:exon2:c.C157G:p.Q53E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon2:c.C157G:p.Q53E;ENSG00000091157:ENST00000357574:exon2:c.C157G:p.Q53E;ENSG00000091157:ENST00000593058:exon2:c.C157G:p.Q53E;	4.99129547332446E-5	0.068
18	54339903	C	T	18	56672672	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon2:c.C157T:p.Q53X;WDR7:NM_052834:exon2:c.C157T:p.Q53X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon2:c.C157T:p.Q53X;ENSG00000091157:ENST00000357574:exon2:c.C157T:p.Q53X;ENSG00000091157:ENST00000593058:exon2:c.C157T:p.Q53X;	0.850056537223924	0.71
18	54339904	A	C	18	56672673	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon2:c.A158C:p.Q53P;WDR7:NM_052834:exon2:c.A158C:p.Q53P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon2:c.A158C:p.Q53P;ENSG00000091157:ENST00000357574:exon2:c.A158C:p.Q53P;ENSG00000091157:ENST00000593058:exon2:c.A158C:p.Q53P;	0.998681379852415	0.952
18	54339904	A	G	18	56672673	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon2:c.A158G:p.Q53R;WDR7:NM_052834:exon2:c.A158G:p.Q53R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon2:c.A158G:p.Q53R;ENSG00000091157:ENST00000357574:exon2:c.A158G:p.Q53R;ENSG00000091157:ENST00000593058:exon2:c.A158G:p.Q53R;	0.999452367785801	0.948
18	54339904	A	T	18	56672673	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon2:c.A158T:p.Q53L;WDR7:NM_052834:exon2:c.A158T:p.Q53L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon2:c.A158T:p.Q53L;ENSG00000091157:ENST00000357574:exon2:c.A158T:p.Q53L;ENSG00000091157:ENST00000593058:exon2:c.A158T:p.Q53L;	0.999554460633201	0.94
18	54339905	A	C	18	56672674	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon2:c.A159C:p.Q53H;WDR7:NM_052834:exon2:c.A159C:p.Q53H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon2:c.A159C:p.Q53H;ENSG00000091157:ENST00000357574:exon2:c.A159C:p.Q53H;ENSG00000091157:ENST00000593058:exon2:c.A159C:p.Q53H;	5.91010486325303E-4	0.03
18	54339905	A	G	18	56672674	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon2:c.A159G:p.Q53Q;WDR7:NM_052834:exon2:c.A159G:p.Q53Q;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon2:c.A159G:p.Q53Q;ENSG00000091157:ENST00000357574:exon2:c.A159G:p.Q53Q;ENSG00000091157:ENST00000593058:exon2:c.A159G:p.Q53Q;	1.17685471412026E-4	0.058
18	54339905	A	T	18	56672674	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon2:c.A159T:p.Q53H;WDR7:NM_052834:exon2:c.A159T:p.Q53H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon2:c.A159T:p.Q53H;ENSG00000091157:ENST00000357574:exon2:c.A159T:p.Q53H;ENSG00000091157:ENST00000593058:exon2:c.A159T:p.Q53H;	9.14774752778148E-4	0.088
18	54339906	G	A	18	56672675	y	y	splicing	WDR7(NM_052834:exon2:c.159+1G>A;NM_015285:exon2:c.159+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon2:c.159+1G>A;ENST00000254442:exon2:c.159+1G>A;ENST00000593058:exon2:c.159+1G>A)	.	.	0.999988247793601	0.922
18	54339906	G	C	18	56672675	y	y	splicing	WDR7(NM_052834:exon2:c.159+1G>C;NM_015285:exon2:c.159+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon2:c.159+1G>C;ENST00000254442:exon2:c.159+1G>C;ENST00000593058:exon2:c.159+1G>C)	.	.	0.999988247793601	0.92
18	54339906	G	T	18	56672675	y	y	splicing	WDR7(NM_052834:exon2:c.159+1G>T;NM_015285:exon2:c.159+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon2:c.159+1G>T;ENST00000254442:exon2:c.159+1G>T;ENST00000593058:exon2:c.159+1G>T)	.	.	0.999988247793601	0.922
18	54339907	T	A	18	56672676	y	y	splicing	WDR7(NM_052834:exon2:c.159+2T>A;NM_015285:exon2:c.159+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon2:c.159+2T>A;ENST00000254442:exon2:c.159+2T>A;ENST00000593058:exon2:c.159+2T>A)	.	.	0.999992446697775	0.928
18	54339907	T	C	18	56672676	y	y	splicing	WDR7(NM_052834:exon2:c.159+2T>C;NM_015285:exon2:c.159+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon2:c.159+2T>C;ENST00000254442:exon2:c.159+2T>C;ENST00000593058:exon2:c.159+2T>C)	.	.	0.999951700573546	0.864
18	54339907	T	G	18	56672676	y	y	splicing	WDR7(NM_052834:exon2:c.159+2T>G;NM_015285:exon2:c.159+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon2:c.159+2T>G;ENST00000254442:exon2:c.159+2T>G;ENST00000593058:exon2:c.159+2T>G)	.	.	0.999992446697775	0.928
18	54339908	G	A	18	56672677	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.68349830658414E-4	0.002
18	54339908	G	C	18	56672677	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.994524897109026	0.69
18	54339908	G	T	18	56672677	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.94666753806244	0.642
18	54339909	A	C	18	56672678	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.993741298547299	0.788
18	54339909	A	G	18	56672678	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.995659570863634	0.762
18	54339909	A	T	18	56672678	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996177175851201	0.73
18	54339910	G	A	18	56672679	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999935104011544	0.916
18	54339910	G	C	18	56672679	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999951621862858	0.964
18	54339910	G	T	18	56672679	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999984294912749	0.974
18	54339911	T	A	18	56672680	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.973735194107717	0.742
18	54339911	T	C	18	56672680	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.97535120760243	0.606
18	54339911	T	G	18	56672680	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.829230925458781	0.614
18	54339912	A	C	18	56672681	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.42875483465335E-5	0.0
18	54339912	A	G	18	56672681	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.07918318138426E-4	0.0
18	54339912	A	T	18	56672681	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.57868352175309E-4	0.002
18	54339913	T	A	18	56672682	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0025433333197337	0.014
18	54339913	T	C	18	56672682	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00177780133235394	0.02
18	54339913	T	G	18	56672682	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00179480000550066	0.016
18	54346551	T	A	18	56679320	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.765896617254082	0.466
18	54346551	T	C	18	56679320	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.33988026785882E-4	0.146
18	54346551	T	G	18	56679320	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.629052328664004	0.414
18	54346552	T	A	18	56679321	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999983393496843	0.982
18	54346552	T	C	18	56679321	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.987381474451036	0.614
18	54346552	T	G	18	56679321	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999585748978385	0.962
18	54346553	G	A	18	56679322	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.87542063963409E-4	0.02
18	54346553	G	C	18	56679322	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.90116970256369E-4	0.004
18	54346553	G	T	18	56679322	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.22616504217358E-4	0.014
18	54346554	C	A	18	56679323	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0119982174802585	0.076
18	54346554	C	G	18	56679323	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0191949385459505	0.2
18	54346554	C	T	18	56679323	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.74402376491797E-4	0.086
18	54346555	A	C	18	56679324	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.50808490938219E-4	0.01
18	54346555	A	G	18	56679324	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.54536914146732E-4	0.014
18	54346555	A	T	18	56679324	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.1359466149613E-4	0.002
18	54346556	T	A	18	56679325	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0193552322344415	0.22
18	54346556	T	C	18	56679325	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.11753190377681E-4	0.026
18	54346556	T	G	18	56679325	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999927770096275	0.986
18	54346557	T	A	18	56679326	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.215486629141904	0.59
18	54346557	T	C	18	56679326	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00124643208560005	0.106
18	54346557	T	G	18	56679326	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.402882968354767	0.544
18	54346558	T	A	18	56679327	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.930490889598959	0.696
18	54346558	T	C	18	56679327	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.11425296355357	0.266
18	54346558	T	G	18	56679327	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.983872819095486	0.726
18	54346559	C	A	18	56679328	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00236983071379428	0.048
18	54346559	C	G	18	56679328	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.72493112284975E-4	0.012
18	54346559	C	T	18	56679328	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.04065153153725E-4	0.026
18	54346560	T	A	18	56679329	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0300416580567143	0.264
18	54346560	T	C	18	56679329	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.7948693205396E-5	0.102
18	54346560	T	G	18	56679329	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.915412223118249	0.718
18	54346561	A	C	18	56679330	y	y	splicing	WDR7(NM_052834:exon3:c.160-2A>C;NM_015285:exon3:c.160-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.160-2A>C;ENST00000254442:exon3:c.160-2A>C;ENST00000593058:exon3:c.160-2A>C)	.	.	0.999990764389106	0.942
18	54346561	A	G	18	56679330	y	y	splicing	WDR7(NM_052834:exon3:c.160-2A>G;NM_015285:exon3:c.160-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.160-2A>G;ENST00000254442:exon3:c.160-2A>G;ENST00000593058:exon3:c.160-2A>G)	.	.	0.999990764389106	0.942
18	54346561	A	T	18	56679330	y	y	splicing	WDR7(NM_052834:exon3:c.160-2A>T;NM_015285:exon3:c.160-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.160-2A>T;ENST00000254442:exon3:c.160-2A>T;ENST00000593058:exon3:c.160-2A>T)	.	.	0.999990764389106	0.942
18	54346562	G	A	18	56679331	y	y	splicing	WDR7(NM_052834:exon3:c.160-1G>A;NM_015285:exon3:c.160-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.160-1G>A;ENST00000254442:exon3:c.160-1G>A;ENST00000593058:exon3:c.160-1G>A)	.	.	0.999988630721284	0.94
18	54346562	G	C	18	56679331	y	y	splicing	WDR7(NM_052834:exon3:c.160-1G>C;NM_015285:exon3:c.160-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.160-1G>C;ENST00000254442:exon3:c.160-1G>C;ENST00000593058:exon3:c.160-1G>C)	.	.	0.999988630721284	0.94
18	54346562	G	T	18	56679331	y	y	splicing	WDR7(NM_052834:exon3:c.160-1G>T;NM_015285:exon3:c.160-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.160-1G>T;ENST00000254442:exon3:c.160-1G>T;ENST00000593058:exon3:c.160-1G>T)	.	.	0.999988630721284	0.94
18	54346563	A	C	18	56679332	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.A160C:p.I54L;WDR7:NM_052834:exon3:c.A160C:p.I54L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.A160C:p.I54L;ENSG00000091157:ENST00000357574:exon3:c.A160C:p.I54L;ENSG00000091157:ENST00000593058:exon3:c.A160C:p.I54L;	0.00141980552432494	0.102
18	54346563	A	G	18	56679332	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.A160G:p.I54V;WDR7:NM_052834:exon3:c.A160G:p.I54V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.A160G:p.I54V;ENSG00000091157:ENST00000357574:exon3:c.A160G:p.I54V;ENSG00000091157:ENST00000593058:exon3:c.A160G:p.I54V;	1.78778313796105E-5	0.0
18	54346563	A	T	18	56679332	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.A160T:p.I54F;WDR7:NM_052834:exon3:c.A160T:p.I54F;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.A160T:p.I54F;ENSG00000091157:ENST00000357574:exon3:c.A160T:p.I54F;ENSG00000091157:ENST00000593058:exon3:c.A160T:p.I54F;	2.33591506252328E-4	0.124
18	54346564	T	A	18	56679333	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.T161A:p.I54N;WDR7:NM_052834:exon3:c.T161A:p.I54N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.T161A:p.I54N;ENSG00000091157:ENST00000357574:exon3:c.T161A:p.I54N;ENSG00000091157:ENST00000593058:exon3:c.T161A:p.I54N;	0.459175426639597	0.402
18	54346564	T	C	18	56679333	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.T161C:p.I54T;WDR7:NM_052834:exon3:c.T161C:p.I54T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.T161C:p.I54T;ENSG00000091157:ENST00000357574:exon3:c.T161C:p.I54T;ENSG00000091157:ENST00000593058:exon3:c.T161C:p.I54T;	0.494079469352351	0.376
18	54346564	T	G	18	56679333	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.T161G:p.I54S;WDR7:NM_052834:exon3:c.T161G:p.I54S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.T161G:p.I54S;ENSG00000091157:ENST00000357574:exon3:c.T161G:p.I54S;ENSG00000091157:ENST00000593058:exon3:c.T161G:p.I54S;	0.300567813407946	0.286
18	54346667	T	A	18	56679436	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.T264A:p.S88R;WDR7:NM_052834:exon3:c.T264A:p.S88R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.T264A:p.S88R;ENSG00000091157:ENST00000357574:exon3:c.T264A:p.S88R;ENSG00000091157:ENST00000593058:exon3:c.T264A:p.S88R;	3.62954523408094E-4	0.116
18	54346667	T	C	18	56679436	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon3:c.T264C:p.S88S;WDR7:NM_052834:exon3:c.T264C:p.S88S;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.T264C:p.S88S;ENSG00000091157:ENST00000357574:exon3:c.T264C:p.S88S;ENSG00000091157:ENST00000593058:exon3:c.T264C:p.S88S;	6.17212561879565E-5	0.064
18	54346667	T	G	18	56679436	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.T264G:p.S88R;WDR7:NM_052834:exon3:c.T264G:p.S88R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.T264G:p.S88R;ENSG00000091157:ENST00000357574:exon3:c.T264G:p.S88R;ENSG00000091157:ENST00000593058:exon3:c.T264G:p.S88R;	7.82075850150387E-4	0.068
18	54346668	G	A	18	56679437	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.G265A:p.G89R;WDR7:NM_052834:exon3:c.G265A:p.G89R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.G265A:p.G89R;ENSG00000091157:ENST00000357574:exon3:c.G265A:p.G89R;ENSG00000091157:ENST00000593058:exon3:c.G265A:p.G89R;	0.980248788125485	0.692
18	54346668	G	C	18	56679437	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.G265C:p.G89R;WDR7:NM_052834:exon3:c.G265C:p.G89R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.G265C:p.G89R;ENSG00000091157:ENST00000357574:exon3:c.G265C:p.G89R;ENSG00000091157:ENST00000593058:exon3:c.G265C:p.G89R;	0.995618830681449	0.918
18	54346668	G	T	18	56679437	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon3:c.G265T:p.G89X;WDR7:NM_052834:exon3:c.G265T:p.G89X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon3:c.G265T:p.G89X;ENSG00000091157:ENST00000357574:exon3:c.G265T:p.G89X;ENSG00000091157:ENST00000593058:exon3:c.G265T:p.G89X;	0.994826608854504	0.932
18	54346669	G	A	18	56679438	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.G266A:p.G89E;WDR7:NM_052834:exon3:c.G266A:p.G89E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.G266A:p.G89E;ENSG00000091157:ENST00000357574:exon3:c.G266A:p.G89E;ENSG00000091157:ENST00000593058:exon3:c.G266A:p.G89E;	0.999956718238258	0.974
18	54346669	G	C	18	56679438	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.G266C:p.G89A;WDR7:NM_052834:exon3:c.G266C:p.G89A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.G266C:p.G89A;ENSG00000091157:ENST00000357574:exon3:c.G266C:p.G89A;ENSG00000091157:ENST00000593058:exon3:c.G266C:p.G89A;	0.999902740538874	0.926
18	54346669	G	T	18	56679438	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon3:c.G266T:p.G89V;WDR7:NM_052834:exon3:c.G266T:p.G89V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon3:c.G266T:p.G89V;ENSG00000091157:ENST00000357574:exon3:c.G266T:p.G89V;ENSG00000091157:ENST00000593058:exon3:c.G266T:p.G89V;	0.999920236971924	0.916
18	54346670	G	A	18	56679439	y	y	splicing	WDR7(NM_052834:exon3:c.266+1G>A;NM_015285:exon3:c.266+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.266+1G>A;ENST00000254442:exon3:c.266+1G>A;ENST00000593058:exon3:c.266+1G>A)	.	.	0.999990361384395	0.938
18	54346670	G	C	18	56679439	y	y	splicing	WDR7(NM_052834:exon3:c.266+1G>C;NM_015285:exon3:c.266+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.266+1G>C;ENST00000254442:exon3:c.266+1G>C;ENST00000593058:exon3:c.266+1G>C)	.	.	0.999990361384395	0.938
18	54346670	G	T	18	56679439	y	y	splicing	WDR7(NM_052834:exon3:c.266+1G>T;NM_015285:exon3:c.266+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.266+1G>T;ENST00000254442:exon3:c.266+1G>T;ENST00000593058:exon3:c.266+1G>T)	.	.	0.999990361384395	0.938
18	54346671	T	A	18	56679440	y	y	splicing	WDR7(NM_052834:exon3:c.266+2T>A;NM_015285:exon3:c.266+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.266+2T>A;ENST00000254442:exon3:c.266+2T>A;ENST00000593058:exon3:c.266+2T>A)	.	.	0.999988247793601	0.932
18	54346671	T	C	18	56679440	y	y	splicing	WDR7(NM_052834:exon3:c.266+2T>C;NM_015285:exon3:c.266+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.266+2T>C;ENST00000254442:exon3:c.266+2T>C;ENST00000593058:exon3:c.266+2T>C)	.	.	0.99340600729494	0.708
18	54346671	T	G	18	56679440	y	y	splicing	WDR7(NM_052834:exon3:c.266+2T>G;NM_015285:exon3:c.266+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon3:c.266+2T>G;ENST00000254442:exon3:c.266+2T>G;ENST00000593058:exon3:c.266+2T>G)	.	.	0.999988247793601	0.932
18	54346672	A	C	18	56679441	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.989169021671433	0.788
18	54346672	A	G	18	56679441	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0104043055643639	0.15
18	54346672	A	T	18	56679441	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.986995806083238	0.72
18	54346673	A	C	18	56679442	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.987327133642869	0.772
18	54346673	A	G	18	56679442	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998286092568328	0.896
18	54346673	A	T	18	56679442	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996214529207526	0.802
18	54346674	G	A	18	56679443	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999952705091638	0.798
18	54346674	G	C	18	56679443	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999896804799806	0.906
18	54346674	G	T	18	56679443	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999779140363502	0.664
18	54346675	T	A	18	56679444	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.211619351314753	0.304
18	54346675	T	C	18	56679444	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.035308082866427	0.362
18	54346675	T	G	18	56679444	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.113020676575683	0.23
18	54346676	A	C	18	56679445	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.83012778346984E-4	0.034
18	54346676	A	G	18	56679445	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.83012778346984E-4	0.032
18	54346676	A	T	18	56679445	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.65943563771368E-5	0.012
18	54346677	T	A	18	56679446	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.07897530514901E-4	0.07
18	54346677	T	C	18	56679446	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.30417542395679E-4	0.006
18	54346677	T	G	18	56679446	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.66770659481878E-4	0.012
18	54348532	T	A	18	56681301	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.31503365612854	0.46
18	54348532	T	C	18	56681301	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.7225378260388E-4	0.012
18	54348532	T	G	18	56681301	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.128831039380972	0.406
18	54348533	T	A	18	56681302	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.823315869512689	0.554
18	54348533	T	C	18	56681302	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00273845236420009	0.078
18	54348533	T	G	18	56681302	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.30173709000407	0.434
18	54348534	T	A	18	56681303	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999962359519631	0.956
18	54348534	T	C	18	56681303	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.011389021824127	0.21
18	54348534	T	G	18	56681303	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.967527450068569	0.766
18	54348535	G	A	18	56681304	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.06718611760654E-4	0.032
18	54348535	G	C	18	56681304	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.7732055546416E-4	0.004
18	54348535	G	T	18	56681304	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.11165729087746E-4	0.004
18	54348536	T	A	18	56681305	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.210483233383768	0.412
18	54348536	T	C	18	56681305	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00111517170204426	0.05
18	54348536	T	G	18	56681305	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0652807620245273	0.432
18	54348537	T	A	18	56681306	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.83302353182303E-4	0.018
18	54348537	T	C	18	56681306	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.35494310650802E-5	0.0
18	54348537	T	G	18	56681306	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.4943950898404E-4	0.02
18	54348538	T	A	18	56681307	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.890913491365009	0.536
18	54348538	T	C	18	56681307	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00234702336055506	0.048
18	54348538	T	G	18	56681307	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.939273092175836	0.64
18	54348539	T	A	18	56681308	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.83832381234755	0.644
18	54348539	T	C	18	56681308	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0158635674791947	0.094
18	54348539	T	G	18	56681308	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.864169893925285	0.642
18	54348540	A	C	18	56681309	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.89065438996453E-5	0.0
18	54348540	A	G	18	56681309	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.89357129589534E-5	0.0
18	54348540	A	T	18	56681309	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.09457350480896E-4	0.004
18	54348541	T	A	18	56681310	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.015055293425297	0.136
18	54348541	T	C	18	56681310	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.86709239124935E-5	0.028
18	54348541	T	G	18	56681310	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.994049492816481	0.672
18	54348542	A	C	18	56681311	y	y	splicing	WDR7(NM_052834:exon4:c.267-2A>C;NM_015285:exon4:c.267-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.267-2A>C;ENST00000254442:exon4:c.267-2A>C;ENST00000593058:exon4:c.267-2A>C)	.	.	0.999992446697775	0.928
18	54348542	A	G	18	56681311	y	y	splicing	WDR7(NM_052834:exon4:c.267-2A>G;NM_015285:exon4:c.267-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.267-2A>G;ENST00000254442:exon4:c.267-2A>G;ENST00000593058:exon4:c.267-2A>G)	.	.	0.999992446697775	0.928
18	54348542	A	T	18	56681311	y	y	splicing	WDR7(NM_052834:exon4:c.267-2A>T;NM_015285:exon4:c.267-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.267-2A>T;ENST00000254442:exon4:c.267-2A>T;ENST00000593058:exon4:c.267-2A>T)	.	.	0.999992446697775	0.928
18	54348543	G	A	18	56681312	y	y	splicing	WDR7(NM_052834:exon4:c.267-1G>A;NM_015285:exon4:c.267-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.267-1G>A;ENST00000254442:exon4:c.267-1G>A;ENST00000593058:exon4:c.267-1G>A)	.	.	0.999991790889593	0.926
18	54348543	G	C	18	56681312	y	y	splicing	WDR7(NM_052834:exon4:c.267-1G>C;NM_015285:exon4:c.267-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.267-1G>C;ENST00000254442:exon4:c.267-1G>C;ENST00000593058:exon4:c.267-1G>C)	.	.	0.999991790889593	0.876
18	54348543	G	T	18	56681312	y	y	splicing	WDR7(NM_052834:exon4:c.267-1G>T;NM_015285:exon4:c.267-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.267-1G>T;ENST00000254442:exon4:c.267-1G>T;ENST00000593058:exon4:c.267-1G>T)	.	.	0.999991790889593	0.926
18	54348544	A	C	18	56681313	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon4:c.A267C:p.G89G;WDR7:NM_052834:exon4:c.A267C:p.G89G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.A267C:p.G89G;ENSG00000091157:ENST00000357574:exon4:c.A267C:p.G89G;ENSG00000091157:ENST00000593058:exon4:c.A267C:p.G89G;	2.54715630481884E-4	0.02
18	54348544	A	G	18	56681313	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon4:c.A267G:p.G89G;WDR7:NM_052834:exon4:c.A267G:p.G89G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.A267G:p.G89G;ENSG00000091157:ENST00000357574:exon4:c.A267G:p.G89G;ENSG00000091157:ENST00000593058:exon4:c.A267G:p.G89G;	1.85312626023943E-5	0.014
18	54348544	A	T	18	56681313	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon4:c.A267T:p.G89G;WDR7:NM_052834:exon4:c.A267T:p.G89G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.A267T:p.G89G;ENSG00000091157:ENST00000357574:exon4:c.A267T:p.G89G;ENSG00000091157:ENST00000593058:exon4:c.A267T:p.G89G;	5.36751579618805E-4	0.022
18	54348545	G	A	18	56681314	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.G268A:p.E90K;WDR7:NM_052834:exon4:c.G268A:p.E90K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.G268A:p.E90K;ENSG00000091157:ENST00000357574:exon4:c.G268A:p.E90K;ENSG00000091157:ENST00000593058:exon4:c.G268A:p.E90K;	0.974095536682515	0.802
18	54348545	G	C	18	56681314	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.G268C:p.E90Q;WDR7:NM_052834:exon4:c.G268C:p.E90Q;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.G268C:p.E90Q;ENSG00000091157:ENST00000357574:exon4:c.G268C:p.E90Q;ENSG00000091157:ENST00000593058:exon4:c.G268C:p.E90Q;	0.963804448306324	0.77
18	54348545	G	T	18	56681314	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon4:c.G268T:p.E90X;WDR7:NM_052834:exon4:c.G268T:p.E90X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon4:c.G268T:p.E90X;ENSG00000091157:ENST00000357574:exon4:c.G268T:p.E90X;ENSG00000091157:ENST00000593058:exon4:c.G268T:p.E90X;	0.977279756470427	0.836
18	54348620	C	A	18	56681389	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.C343A:p.Q115K;WDR7:NM_052834:exon4:c.C343A:p.Q115K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.C343A:p.Q115K;ENSG00000091157:ENST00000357574:exon4:c.C343A:p.Q115K;ENSG00000091157:ENST00000593058:exon4:c.C343A:p.Q115K;	0.857030935209331	0.692
18	54348620	C	G	18	56681389	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.C343G:p.Q115E;WDR7:NM_052834:exon4:c.C343G:p.Q115E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.C343G:p.Q115E;ENSG00000091157:ENST00000357574:exon4:c.C343G:p.Q115E;ENSG00000091157:ENST00000593058:exon4:c.C343G:p.Q115E;	0.834625252579592	0.542
18	54348620	C	T	18	56681389	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon4:c.C343T:p.Q115X;WDR7:NM_052834:exon4:c.C343T:p.Q115X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon4:c.C343T:p.Q115X;ENSG00000091157:ENST00000357574:exon4:c.C343T:p.Q115X;ENSG00000091157:ENST00000593058:exon4:c.C343T:p.Q115X;	0.998041209247346	0.864
18	54348621	A	C	18	56681390	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.A344C:p.Q115P;WDR7:NM_052834:exon4:c.A344C:p.Q115P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.A344C:p.Q115P;ENSG00000091157:ENST00000357574:exon4:c.A344C:p.Q115P;ENSG00000091157:ENST00000593058:exon4:c.A344C:p.Q115P;	0.997088663383239	0.856
18	54348621	A	G	18	56681390	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.A344G:p.Q115R;WDR7:NM_052834:exon4:c.A344G:p.Q115R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.A344G:p.Q115R;ENSG00000091157:ENST00000357574:exon4:c.A344G:p.Q115R;ENSG00000091157:ENST00000593058:exon4:c.A344G:p.Q115R;	0.999541480235722	0.976
18	54348621	A	T	18	56681390	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.A344T:p.Q115L;WDR7:NM_052834:exon4:c.A344T:p.Q115L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.A344T:p.Q115L;ENSG00000091157:ENST00000357574:exon4:c.A344T:p.Q115L;ENSG00000091157:ENST00000593058:exon4:c.A344T:p.Q115L;	0.99963649238664	0.978
18	54348622	G	A	18	56681391	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon4:c.G345A:p.Q115Q;WDR7:NM_052834:exon4:c.G345A:p.Q115Q;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.G345A:p.Q115Q;ENSG00000091157:ENST00000357574:exon4:c.G345A:p.Q115Q;ENSG00000091157:ENST00000593058:exon4:c.G345A:p.Q115Q;	0.999605370790813	1.0
18	54348622	G	C	18	56681391	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.G345C:p.Q115H;WDR7:NM_052834:exon4:c.G345C:p.Q115H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.G345C:p.Q115H;ENSG00000091157:ENST00000357574:exon4:c.G345C:p.Q115H;ENSG00000091157:ENST00000593058:exon4:c.G345C:p.Q115H;	0.999983066455239	0.998
18	54348622	G	T	18	56681391	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon4:c.G345T:p.Q115H;WDR7:NM_052834:exon4:c.G345T:p.Q115H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon4:c.G345T:p.Q115H;ENSG00000091157:ENST00000357574:exon4:c.G345T:p.Q115H;ENSG00000091157:ENST00000593058:exon4:c.G345T:p.Q115H;	0.999921679139892	0.998
18	54348623	G	A	18	56681392	y	y	splicing	WDR7(NM_052834:exon4:c.345+1G>A;NM_015285:exon4:c.345+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.345+1G>A;ENST00000254442:exon4:c.345+1G>A;ENST00000593058:exon4:c.345+1G>A)	.	.	0.999988247793601	0.928
18	54348623	G	C	18	56681392	y	y	splicing	WDR7(NM_052834:exon4:c.345+1G>C;NM_015285:exon4:c.345+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.345+1G>C;ENST00000254442:exon4:c.345+1G>C;ENST00000593058:exon4:c.345+1G>C)	.	.	0.999988247793601	0.928
18	54348623	G	T	18	56681392	y	y	splicing	WDR7(NM_052834:exon4:c.345+1G>T;NM_015285:exon4:c.345+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.345+1G>T;ENST00000254442:exon4:c.345+1G>T;ENST00000593058:exon4:c.345+1G>T)	.	.	0.999988247793601	0.928
18	54348624	T	A	18	56681393	y	y	splicing	WDR7(NM_052834:exon4:c.345+2T>A;NM_015285:exon4:c.345+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.345+2T>A;ENST00000254442:exon4:c.345+2T>A;ENST00000593058:exon4:c.345+2T>A)	.	.	0.999992446697775	0.928
18	54348624	T	C	18	56681393	y	y	splicing	WDR7(NM_052834:exon4:c.345+2T>C;NM_015285:exon4:c.345+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.345+2T>C;ENST00000254442:exon4:c.345+2T>C;ENST00000593058:exon4:c.345+2T>C)	.	.	0.993808943985639	0.648
18	54348624	T	G	18	56681393	y	y	splicing	WDR7(NM_052834:exon4:c.345+2T>G;NM_015285:exon4:c.345+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon4:c.345+2T>G;ENST00000254442:exon4:c.345+2T>G;ENST00000593058:exon4:c.345+2T>G)	.	.	0.999992446697775	0.928
18	54348625	T	A	18	56681394	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.012310530154756	0.118
18	54348625	T	C	18	56681394	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.65276548966072E-4	0.174
18	54348625	T	G	18	56681394	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.010050232253672	0.08
18	54348626	A	C	18	56681395	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.198140116048581	0.308
18	54348626	A	G	18	56681395	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0922378455872016	0.338
18	54348626	A	T	18	56681395	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.378021227314936	0.338
18	54348627	G	A	18	56681396	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999128922759376	0.948
18	54348627	G	C	18	56681396	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999751878878994	0.844
18	54348627	G	T	18	56681396	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998908746390307	0.884
18	54348628	T	A	18	56681397	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.8172079701266	0.688
18	54348628	T	C	18	56681397	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.952703771126089	0.736
18	54348628	T	G	18	56681397	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.742982640548144	0.592
18	54348629	T	A	18	56681398	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.10029192117459E-4	0.002
18	54348629	T	C	18	56681398	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.84831178818423E-5	0.0
18	54348629	T	G	18	56681398	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.74607616921195E-5	0.0
18	54348630	T	A	18	56681399	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.12159795978561E-4	0.008
18	54348630	T	C	18	56681399	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.0762805979265E-4	0.002
18	54348630	T	G	18	56681399	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.40170134901411E-4	0.0
18	54349898	G	A	18	56682667	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.09273050810281E-5	0.038
18	54349898	G	C	18	56682667	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.6825513206723E-5	0.048
18	54349898	G	T	18	56682667	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.59926080281322E-5	0.096
18	54349899	C	A	18	56682668	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.35265494216746E-4	0.142
18	54349899	C	G	18	56682668	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.28117177987332E-4	0.096
18	54349899	C	T	18	56682668	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.00492602748348E-4	0.19
18	54349900	A	C	18	56682669	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.99681769761411E-5	0.044
18	54349900	A	G	18	56682669	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.28364529793895E-5	0.03
18	54349900	A	T	18	56682669	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.57945657915851E-4	0.066
18	54349901	T	A	18	56682670	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999396075289007	0.916
18	54349901	T	C	18	56682670	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00629263613689195	0.178
18	54349901	T	G	18	56682670	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999464434598648	0.918
18	54349902	G	A	18	56682671	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.23813874949741E-5	0.044
18	54349902	G	C	18	56682671	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.16172245480812E-5	0.056
18	54349902	G	T	18	56682671	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.16172245480812E-5	0.084
18	54349903	A	C	18	56682672	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.8469189795673E-5	0.024
18	54349903	A	G	18	56682672	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.35326368615949E-5	0.05
18	54349903	A	T	18	56682672	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.36381675201917E-5	0.046
18	54349904	A	C	18	56682673	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00176029954699153	0.092
18	54349904	A	G	18	56682673	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999488757301905	0.916
18	54349904	A	T	18	56682673	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.001899307526879	0.046
18	54349905	T	A	18	56682674	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999515579697337	0.932
18	54349905	T	C	18	56682674	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.05109998264893E-5	0.112
18	54349905	T	G	18	56682674	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999561799047188	0.932
18	54349906	G	A	18	56682675	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.64772615934356E-5	0.026
18	54349906	G	C	18	56682675	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.45337501352557E-5	0.016
18	54349906	G	T	18	56682675	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.8932615756315E-5	0.052
18	54349907	T	A	18	56682676	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.13314431315692	0.42
18	54349907	T	C	18	56682676	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.41227480089714E-4	0.048
18	54349907	T	G	18	56682676	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.569910862558737	0.572
18	54349908	A	C	18	56682677	y	y	splicing	WDR7(NM_052834:exon5:c.346-2A>C;NM_015285:exon5:c.346-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.346-2A>C;ENST00000254442:exon5:c.346-2A>C;ENST00000593058:exon5:c.346-2A>C)	.	.	0.99995320361084	0.876
18	54349908	A	G	18	56682677	y	y	splicing	WDR7(NM_052834:exon5:c.346-2A>G;NM_015285:exon5:c.346-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.346-2A>G;ENST00000254442:exon5:c.346-2A>G;ENST00000593058:exon5:c.346-2A>G)	.	.	0.99995320361084	0.876
18	54349908	A	T	18	56682677	y	y	splicing	WDR7(NM_052834:exon5:c.346-2A>T;NM_015285:exon5:c.346-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.346-2A>T;ENST00000254442:exon5:c.346-2A>T;ENST00000593058:exon5:c.346-2A>T)	.	.	0.99995320361084	0.876
18	54349909	G	A	18	56682678	y	y	splicing	WDR7(NM_052834:exon5:c.346-1G>A;NM_015285:exon5:c.346-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.346-1G>A;ENST00000254442:exon5:c.346-1G>A;ENST00000593058:exon5:c.346-1G>A)	.	.	0.999974043497117	0.886
18	54349909	G	C	18	56682678	y	y	splicing	WDR7(NM_052834:exon5:c.346-1G>C;NM_015285:exon5:c.346-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.346-1G>C;ENST00000254442:exon5:c.346-1G>C;ENST00000593058:exon5:c.346-1G>C)	.	.	0.999974043497117	0.886
18	54349909	G	T	18	56682678	y	y	splicing	WDR7(NM_052834:exon5:c.346-1G>T;NM_015285:exon5:c.346-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.346-1G>T;ENST00000254442:exon5:c.346-1G>T;ENST00000593058:exon5:c.346-1G>T)	.	.	0.999974043497117	0.886
18	54349910	T	A	18	56682679	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.T346A:p.F116I;WDR7:NM_052834:exon5:c.T346A:p.F116I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.T346A:p.F116I;ENSG00000091157:ENST00000357574:exon5:c.T346A:p.F116I;ENSG00000091157:ENST00000593058:exon5:c.T346A:p.F116I;	0.0333989146042986	0.43
18	54349910	T	C	18	56682679	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.T346C:p.F116L;WDR7:NM_052834:exon5:c.T346C:p.F116L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.T346C:p.F116L;ENSG00000091157:ENST00000357574:exon5:c.T346C:p.F116L;ENSG00000091157:ENST00000593058:exon5:c.T346C:p.F116L;	0.0101950862227886	0.054
18	54349910	T	G	18	56682679	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.T346G:p.F116V;WDR7:NM_052834:exon5:c.T346G:p.F116V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.T346G:p.F116V;ENSG00000091157:ENST00000357574:exon5:c.T346G:p.F116V;ENSG00000091157:ENST00000593058:exon5:c.T346G:p.F116V;	0.00293293745110428	0.102
18	54349911	T	A	18	56682680	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.T347A:p.F116Y;WDR7:NM_052834:exon5:c.T347A:p.F116Y;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.T347A:p.F116Y;ENSG00000091157:ENST00000357574:exon5:c.T347A:p.F116Y;ENSG00000091157:ENST00000593058:exon5:c.T347A:p.F116Y;	0.00455893173685463	0.11
18	54349911	T	C	18	56682680	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.T347C:p.F116S;WDR7:NM_052834:exon5:c.T347C:p.F116S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.T347C:p.F116S;ENSG00000091157:ENST00000357574:exon5:c.T347C:p.F116S;ENSG00000091157:ENST00000593058:exon5:c.T347C:p.F116S;	6.28458322027486E-4	0.086
18	54349911	T	G	18	56682680	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.T347G:p.F116C;WDR7:NM_052834:exon5:c.T347G:p.F116C;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.T347G:p.F116C;ENSG00000091157:ENST00000357574:exon5:c.T347G:p.F116C;ENSG00000091157:ENST00000593058:exon5:c.T347G:p.F116C;	0.063486532099072	0.328
18	54350082	A	C	18	56682851	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.A518C:p.Q173P;WDR7:NM_052834:exon5:c.A518C:p.Q173P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.A518C:p.Q173P;ENSG00000091157:ENST00000357574:exon5:c.A518C:p.Q173P;	0.442106012728905	0.604
18	54350082	A	G	18	56682851	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.A518G:p.Q173R;WDR7:NM_052834:exon5:c.A518G:p.Q173R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.A518G:p.Q173R;ENSG00000091157:ENST00000357574:exon5:c.A518G:p.Q173R;	0.0480312600157977	0.378
18	54350082	A	T	18	56682851	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.A518T:p.Q173L;WDR7:NM_052834:exon5:c.A518T:p.Q173L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.A518T:p.Q173L;ENSG00000091157:ENST00000357574:exon5:c.A518T:p.Q173L;	0.781216051715158	0.57
18	54350083	A	C	18	56682852	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.A519C:p.Q173H;WDR7:NM_052834:exon5:c.A519C:p.Q173H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.A519C:p.Q173H;ENSG00000091157:ENST00000357574:exon5:c.A519C:p.Q173H;	0.998927006293002	0.966
18	54350083	A	G	18	56682852	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon5:c.A519G:p.Q173Q;WDR7:NM_052834:exon5:c.A519G:p.Q173Q;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.A519G:p.Q173Q;ENSG00000091157:ENST00000357574:exon5:c.A519G:p.Q173Q;	0.998254040616166	0.952
18	54350083	A	T	18	56682852	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.A519T:p.Q173H;WDR7:NM_052834:exon5:c.A519T:p.Q173H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.A519T:p.Q173H;ENSG00000091157:ENST00000357574:exon5:c.A519T:p.Q173H;	0.999759805881115	0.996
18	54350084	G	A	18	56682853	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.G520A:p.E174K;WDR7:NM_052834:exon5:c.G520A:p.E174K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.G520A:p.E174K;ENSG00000091157:ENST00000357574:exon5:c.G520A:p.E174K;	0.999981077606557	0.994
18	54350084	G	C	18	56682853	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon5:c.G520C:p.E174Q;WDR7:NM_052834:exon5:c.G520C:p.E174Q;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon5:c.G520C:p.E174Q;ENSG00000091157:ENST00000357574:exon5:c.G520C:p.E174Q;	0.999993869225266	0.998
18	54350084	G	T	18	56682853	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon5:c.G520T:p.E174X;WDR7:NM_052834:exon5:c.G520T:p.E174X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon5:c.G520T:p.E174X;ENSG00000091157:ENST00000357574:exon5:c.G520T:p.E174X;	0.999984332954674	0.982
18	54350085	G	A	18	56682854	y	y	splicing	WDR7(NM_052834:exon5:c.520+1G>A;NM_015285:exon5:c.520+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.520+1G>A;ENST00000254442:exon5:c.520+1G>A)	.	.	0.999988247793601	0.932
18	54350085	G	C	18	56682854	y	y	splicing	WDR7(NM_052834:exon5:c.520+1G>C;NM_015285:exon5:c.520+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.520+1G>C;ENST00000254442:exon5:c.520+1G>C)	.	.	0.999988247793601	0.932
18	54350085	G	T	18	56682854	y	y	splicing	WDR7(NM_052834:exon5:c.520+1G>T;NM_015285:exon5:c.520+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.520+1G>T;ENST00000254442:exon5:c.520+1G>T)	.	.	0.999988247793601	0.932
18	54350086	T	A	18	56682855	y	y	splicing	WDR7(NM_052834:exon5:c.520+2T>A;NM_015285:exon5:c.520+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.520+2T>A;ENST00000254442:exon5:c.520+2T>A)	.	.	0.999993672935256	0.928
18	54350086	T	C	18	56682855	y	y	splicing	WDR7(NM_052834:exon5:c.520+2T>C;NM_015285:exon5:c.520+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.520+2T>C;ENST00000254442:exon5:c.520+2T>C)	.	.	0.989732985218383	0.59
18	54350086	T	G	18	56682855	y	y	splicing	WDR7(NM_052834:exon5:c.520+2T>G;NM_015285:exon5:c.520+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon5:c.520+2T>G;ENST00000254442:exon5:c.520+2T>G)	.	.	0.999993672935256	0.928
18	54350087	C	A	18	56682856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.96722133632315E-4	0.082
18	54350087	C	G	18	56682856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.40467548524129E-4	0.056
18	54350087	C	T	18	56682856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.22816837390101E-4	0.016
18	54350088	A	C	18	56682857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.971878655386229	0.602
18	54350088	A	G	18	56682857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.49310826800932	0.416
18	54350088	A	T	18	56682857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.866034617535198	0.614
18	54350089	G	A	18	56682858	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997073511255797	0.946
18	54350089	G	C	18	56682858	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.994552923706203	0.802
18	54350089	G	T	18	56682858	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997931920913609	0.896
18	54350090	T	A	18	56682859	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.212903480944497	0.32
18	54350090	T	C	18	56682859	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0791254046919459	0.264
18	54350090	T	G	18	56682859	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0575031884548888	0.358
18	54350091	G	A	18	56682860	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.00731147086085E-4	0.04
18	54350091	G	C	18	56682860	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.72749039833191E-5	0.014
18	54350091	G	T	18	56682860	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.26597797914988E-4	0.008
18	54350092	T	A	18	56682861	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.40139097938079E-5	0.0
18	54350092	T	C	18	56682861	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.27075100705566E-4	0.0
18	54350092	T	G	18	56682861	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.30934220308228E-4	0.008
18	54353175	T	A	18	56685944	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.51994199327753E-4	0.14
18	54353175	T	C	18	56685944	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.07004163687583E-4	0.018
18	54353175	T	G	18	56685944	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00148443601662848	0.154
18	54353176	T	A	18	56685945	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0247901792534114	0.372
18	54353176	T	C	18	56685945	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00110271427907282	0.116
18	54353176	T	G	18	56685945	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0164106795197263	0.214
18	54353177	C	A	18	56685946	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00593455309997565	0.176
18	54353177	C	G	18	56685946	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0041156204006126	0.108
18	54353177	C	T	18	56685946	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.36236050777612E-4	0.002
18	54353178	T	A	18	56685947	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00100934608989314	0.062
18	54353178	T	C	18	56685947	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.66424187797363E-5	0.002
18	54353178	T	G	18	56685947	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.33693898997094E-4	0.064
18	54353179	C	A	18	56685948	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.99944570131509E-4	0.016
18	54353179	C	G	18	56685948	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.97097820563171E-4	0.014
18	54353179	C	T	18	56685948	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.41834425977946E-5	0.01
18	54353180	A	C	18	56685949	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.27510486546575E-5	0.004
18	54353180	A	G	18	56685949	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.84964129063689E-5	0.0
18	54353180	A	T	18	56685949	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.68527035159163E-5	0.0
18	54353181	T	A	18	56685950	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.57434004527084E-4	0.028
18	54353181	T	C	18	56685950	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.03819751461575E-5	0.0
18	54353181	T	G	18	56685950	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998138509395096	0.958
18	54353182	T	A	18	56685951	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0105826788327445	0.142
18	54353182	T	C	18	56685951	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.57619570793697E-5	0.004
18	54353182	T	G	18	56685951	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0121017969679542	0.146
18	54353183	T	A	18	56685952	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.11914389143026E-5	0.002
18	54353183	T	C	18	56685952	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.51914423298278E-4	0.0
18	54353183	T	G	18	56685952	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.21726176585138E-4	0.034
18	54353184	T	A	18	56685953	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00341399161708175	0.098
18	54353184	T	C	18	56685953	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.81229975096671E-5	0.0
18	54353184	T	G	18	56685953	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.871541873517534	0.674
18	54353185	A	C	18	56685954	y	y	splicing	WDR7(NM_052834:exon6:c.521-2A>C;NM_015285:exon6:c.521-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.521-2A>C;ENST00000254442:exon6:c.521-2A>C)	.	.	0.999978952611685	0.932
18	54353185	A	G	18	56685954	y	y	splicing	WDR7(NM_052834:exon6:c.521-2A>G;NM_015285:exon6:c.521-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.521-2A>G;ENST00000254442:exon6:c.521-2A>G)	.	.	0.999978952611685	0.932
18	54353185	A	T	18	56685954	y	y	splicing	WDR7(NM_052834:exon6:c.521-2A>T;NM_015285:exon6:c.521-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.521-2A>T;ENST00000254442:exon6:c.521-2A>T)	.	.	0.999988247793601	0.93
18	54353186	G	A	18	56685955	y	y	splicing	WDR7(NM_052834:exon6:c.521-1G>A;NM_015285:exon6:c.521-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.521-1G>A;ENST00000254442:exon6:c.521-1G>A)	.	.	0.999990361384395	0.934
18	54353186	G	C	18	56685955	y	y	splicing	WDR7(NM_052834:exon6:c.521-1G>C;NM_015285:exon6:c.521-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.521-1G>C;ENST00000254442:exon6:c.521-1G>C)	.	.	0.999990361384395	0.938
18	54353186	G	T	18	56685955	y	y	splicing	WDR7(NM_052834:exon6:c.521-1G>T;NM_015285:exon6:c.521-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.521-1G>T;ENST00000254442:exon6:c.521-1G>T)	.	.	0.999990361384395	0.938
18	54353187	A	C	18	56685956	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.A521C:p.E174A;WDR7:NM_052834:exon6:c.A521C:p.E174A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.A521C:p.E174A;ENSG00000091157:ENST00000357574:exon6:c.A521C:p.E174A;	0.718495624492356	0.522
18	54353187	A	G	18	56685956	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.A521G:p.E174G;WDR7:NM_052834:exon6:c.A521G:p.E174G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.A521G:p.E174G;ENSG00000091157:ENST00000357574:exon6:c.A521G:p.E174G;	0.00332640117060602	0.052
18	54353187	A	T	18	56685956	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.A521T:p.E174V;WDR7:NM_052834:exon6:c.A521T:p.E174V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.A521T:p.E174V;ENSG00000091157:ENST00000357574:exon6:c.A521T:p.E174V;	0.477616100698671	0.49
18	54353188	G	A	18	56685957	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon6:c.G522A:p.E174E;WDR7:NM_052834:exon6:c.G522A:p.E174E;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.G522A:p.E174E;ENSG00000091157:ENST00000357574:exon6:c.G522A:p.E174E;	0.0068622103956766	0.11
18	54353188	G	C	18	56685957	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.G522C:p.E174D;WDR7:NM_052834:exon6:c.G522C:p.E174D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.G522C:p.E174D;ENSG00000091157:ENST00000357574:exon6:c.G522C:p.E174D;	0.0010835271401814	0.064
18	54353188	G	T	18	56685957	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.G522T:p.E174D;WDR7:NM_052834:exon6:c.G522T:p.E174D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.G522T:p.E174D;ENSG00000091157:ENST00000357574:exon6:c.G522T:p.E174D;	0.00227157006810499	0.056
18	54353261	C	A	18	56686030	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.C595A:p.Q199K;WDR7:NM_052834:exon6:c.C595A:p.Q199K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.C595A:p.Q199K;ENSG00000091157:ENST00000357574:exon6:c.C595A:p.Q199K;	0.00219621423349129	0.128
18	54353261	C	G	18	56686030	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.C595G:p.Q199E;WDR7:NM_052834:exon6:c.C595G:p.Q199E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.C595G:p.Q199E;ENSG00000091157:ENST00000357574:exon6:c.C595G:p.Q199E;	0.504824383720676	0.572
18	54353261	C	T	18	56686030	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon6:c.C595T:p.Q199X;WDR7:NM_052834:exon6:c.C595T:p.Q199X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon6:c.C595T:p.Q199X;ENSG00000091157:ENST00000357574:exon6:c.C595T:p.Q199X;	0.997265718208584	0.882
18	54353262	A	C	18	56686031	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.A596C:p.Q199P;WDR7:NM_052834:exon6:c.A596C:p.Q199P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.A596C:p.Q199P;ENSG00000091157:ENST00000357574:exon6:c.A596C:p.Q199P;	0.502530314249804	0.578
18	54353262	A	G	18	56686031	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.A596G:p.Q199R;WDR7:NM_052834:exon6:c.A596G:p.Q199R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.A596G:p.Q199R;ENSG00000091157:ENST00000357574:exon6:c.A596G:p.Q199R;	0.31063172090426	0.482
18	54353262	A	T	18	56686031	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.A596T:p.Q199L;WDR7:NM_052834:exon6:c.A596T:p.Q199L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.A596T:p.Q199L;ENSG00000091157:ENST00000357574:exon6:c.A596T:p.Q199L;	0.66225322049706	0.602
18	54353263	G	A	18	56686032	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon6:c.G597A:p.Q199Q;WDR7:NM_052834:exon6:c.G597A:p.Q199Q;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.G597A:p.Q199Q;ENSG00000091157:ENST00000357574:exon6:c.G597A:p.Q199Q;	0.997995831487952	0.966
18	54353263	G	C	18	56686032	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.G597C:p.Q199H;WDR7:NM_052834:exon6:c.G597C:p.Q199H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.G597C:p.Q199H;ENSG00000091157:ENST00000357574:exon6:c.G597C:p.Q199H;	0.999996286882079	1.0
18	54353263	G	T	18	56686032	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon6:c.G597T:p.Q199H;WDR7:NM_052834:exon6:c.G597T:p.Q199H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon6:c.G597T:p.Q199H;ENSG00000091157:ENST00000357574:exon6:c.G597T:p.Q199H;	0.999922891632575	0.996
18	54353264	G	A	18	56686033	y	y	splicing	WDR7(NM_052834:exon6:c.597+1G>A;NM_015285:exon6:c.597+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.597+1G>A;ENST00000254442:exon6:c.597+1G>A)	.	.	0.99993314117114	0.944
18	54353264	G	C	18	56686033	y	y	splicing	WDR7(NM_052834:exon6:c.597+1G>C;NM_015285:exon6:c.597+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.597+1G>C;ENST00000254442:exon6:c.597+1G>C)	.	.	0.99993314117114	0.948
18	54353264	G	T	18	56686033	y	y	splicing	WDR7(NM_052834:exon6:c.597+1G>T;NM_015285:exon6:c.597+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.597+1G>T;ENST00000254442:exon6:c.597+1G>T)	.	.	0.99993314117114	0.948
18	54353265	T	A	18	56686034	y	y	splicing	WDR7(NM_052834:exon6:c.597+2T>A;NM_015285:exon6:c.597+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.597+2T>A;ENST00000254442:exon6:c.597+2T>A)	.	.	0.99994568797423	0.944
18	54353265	T	C	18	56686034	y	y	splicing	WDR7(NM_052834:exon6:c.597+2T>C;NM_015285:exon6:c.597+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.597+2T>C;ENST00000254442:exon6:c.597+2T>C)	.	.	0.999709298948443	0.902
18	54353265	T	G	18	56686034	y	y	splicing	WDR7(NM_052834:exon6:c.597+2T>G;NM_015285:exon6:c.597+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon6:c.597+2T>G;ENST00000254442:exon6:c.597+2T>G)	.	.	0.999946188727699	0.942
18	54353266	G	A	18	56686035	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.31479176218318E-5	0.016
18	54353266	G	C	18	56686035	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.295237202527721	0.332
18	54353266	G	T	18	56686035	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.249783685350073	0.456
18	54353267	A	C	18	56686036	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.416989822386468	0.494
18	54353267	A	G	18	56686036	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.754541588819049	0.582
18	54353267	A	T	18	56686036	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.984388111837093	0.67
18	54353268	G	A	18	56686037	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998547320051016	0.684
18	54353268	G	C	18	56686037	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999024416710614	0.738
18	54353268	G	T	18	56686037	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996395590926234	0.7
18	54353269	A	C	18	56686038	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.80303024224019E-4	0.022
18	54353269	A	G	18	56686038	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.29346151632657E-5	0.0
18	54353269	A	T	18	56686038	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.42941897543354E-5	0.01
18	54353270	A	C	18	56686039	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.34602733508126E-5	0.0
18	54353270	A	G	18	56686039	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.34184836449868E-5	0.058
18	54353270	A	T	18	56686039	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.42734118051026E-4	0.032
18	54353271	A	C	18	56686040	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.00584447653403E-5	0.0
18	54353271	A	G	18	56686040	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.95066689002875E-5	0.002
18	54353271	A	T	18	56686040	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.48612641684273E-5	0.002
18	54354074	C	A	18	56686843	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.0778769240926E-4	0.008
18	54354074	C	G	18	56686843	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.96885222031221E-5	0.002
18	54354074	C	T	18	56686843	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.60052175726148E-5	0.0
18	54354075	T	A	18	56686844	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.145443601129006	0.36
18	54354075	T	C	18	56686844	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0839179816512491	0.18
18	54354075	T	G	18	56686844	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0981403078921336	0.396
18	54354076	T	A	18	56686845	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00467248140422324	0.126
18	54354076	T	C	18	56686845	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.13873533237656E-4	0.034
18	54354076	T	G	18	56686845	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00332002838096647	0.21
18	54354077	T	A	18	56686846	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.20443695584653E-4	0.158
18	54354077	T	C	18	56686846	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.93148770053433E-5	0.022
18	54354077	T	G	18	56686846	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.71510942144243E-4	0.124
18	54354078	C	A	18	56686847	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0743019431233312	0.296
18	54354078	C	G	18	56686847	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0502206415978079	0.252
18	54354078	C	T	18	56686847	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.27857755255514E-4	0.042
18	54354079	T	A	18	56686848	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00461309165660403	0.094
18	54354079	T	C	18	56686848	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.52291438808327E-4	0.008
18	54354079	T	G	18	56686848	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00435553059324839	0.116
18	54354080	T	A	18	56686849	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.104260084799183	0.242
18	54354080	T	C	18	56686849	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00181067306246535	0.028
18	54354080	T	G	18	56686849	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.213929564955201	0.264
18	54354081	T	A	18	56686850	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.699253156762594	0.474
18	54354081	T	C	18	56686850	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0309999844868088	0.216
18	54354081	T	G	18	56686850	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.364408577468735	0.452
18	54354082	T	A	18	56686851	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00162336552344376	0.02
18	54354082	T	C	18	56686851	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.57102403408623E-4	0.048
18	54354082	T	G	18	56686851	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.68710981231101E-4	0.014
18	54354083	C	A	18	56686852	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.358209246836549	0.566
18	54354083	C	G	18	56686852	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.995032079658917	0.838
18	54354083	C	T	18	56686852	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00955472600811898	0.118
18	54354084	A	C	18	56686853	y	y	splicing	WDR7(NM_052834:exon7:c.598-2A>C;NM_015285:exon7:c.598-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.598-2A>C;ENST00000254442:exon7:c.598-2A>C)	.	.	0.999989917668626	0.928
18	54354084	A	G	18	56686853	y	y	splicing	WDR7(NM_052834:exon7:c.598-2A>G;NM_015285:exon7:c.598-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.598-2A>G;ENST00000254442:exon7:c.598-2A>G)	.	.	0.999989917668626	0.928
18	54354084	A	T	18	56686853	y	y	splicing	WDR7(NM_052834:exon7:c.598-2A>T;NM_015285:exon7:c.598-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.598-2A>T;ENST00000254442:exon7:c.598-2A>T)	.	.	0.999989917668626	0.928
18	54354085	G	A	18	56686854	y	y	splicing	WDR7(NM_052834:exon7:c.598-1G>A;NM_015285:exon7:c.598-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.598-1G>A;ENST00000254442:exon7:c.598-1G>A)	.	.	0.999981760802075	0.944
18	54354085	G	C	18	56686854	y	y	splicing	WDR7(NM_052834:exon7:c.598-1G>C;NM_015285:exon7:c.598-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.598-1G>C;ENST00000254442:exon7:c.598-1G>C)	.	.	0.999981760802075	0.944
18	54354085	G	T	18	56686854	y	y	splicing	WDR7(NM_052834:exon7:c.598-1G>T;NM_015285:exon7:c.598-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.598-1G>T;ENST00000254442:exon7:c.598-1G>T)	.	.	0.999981760802075	0.944
18	54354086	G	A	18	56686855	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.G598A:p.D200N;WDR7:NM_052834:exon7:c.G598A:p.D200N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G598A:p.D200N;ENSG00000091157:ENST00000357574:exon7:c.G598A:p.D200N;	0.609772984524633	0.546
18	54354086	G	C	18	56686855	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.G598C:p.D200H;WDR7:NM_052834:exon7:c.G598C:p.D200H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G598C:p.D200H;ENSG00000091157:ENST00000357574:exon7:c.G598C:p.D200H;	0.813510408828117	0.544
18	54354086	G	T	18	56686855	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.G598T:p.D200Y;WDR7:NM_052834:exon7:c.G598T:p.D200Y;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G598T:p.D200Y;ENSG00000091157:ENST00000357574:exon7:c.G598T:p.D200Y;	0.881964907067351	0.48
18	54354087	A	C	18	56686856	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.A599C:p.D200A;WDR7:NM_052834:exon7:c.A599C:p.D200A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.A599C:p.D200A;ENSG00000091157:ENST00000357574:exon7:c.A599C:p.D200A;	0.00702833143441287	0.176
18	54354087	A	G	18	56686856	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.A599G:p.D200G;WDR7:NM_052834:exon7:c.A599G:p.D200G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.A599G:p.D200G;ENSG00000091157:ENST00000357574:exon7:c.A599G:p.D200G;	0.00532505627130434	0.018
18	54354087	A	T	18	56686856	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.A599T:p.D200V;WDR7:NM_052834:exon7:c.A599T:p.D200V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.A599T:p.D200V;ENSG00000091157:ENST00000357574:exon7:c.A599T:p.D200V;	0.00865333503669078	0.054
18	54354203	A	C	18	56686972	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon7:c.A715C:p.R239R;WDR7:NM_052834:exon7:c.A715C:p.R239R;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.A715C:p.R239R;ENSG00000091157:ENST00000357574:exon7:c.A715C:p.R239R;	0.0605305983310356	0.426
18	54354203	A	G	18	56686972	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.A715G:p.R239G;WDR7:NM_052834:exon7:c.A715G:p.R239G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.A715G:p.R239G;ENSG00000091157:ENST00000357574:exon7:c.A715G:p.R239G;	0.166445272873274	0.414
18	54354203	A	T	18	56686972	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.A715T:p.R239W;WDR7:NM_052834:exon7:c.A715T:p.R239W;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.A715T:p.R239W;ENSG00000091157:ENST00000357574:exon7:c.A715T:p.R239W;	0.961770915370892	0.592
18	54354204	G	A	18	56686973	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.G716A:p.R239K;WDR7:NM_052834:exon7:c.G716A:p.R239K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G716A:p.R239K;ENSG00000091157:ENST00000357574:exon7:c.G716A:p.R239K;	0.94208690526875	0.602
18	54354204	G	C	18	56686973	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.G716C:p.R239T;WDR7:NM_052834:exon7:c.G716C:p.R239T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G716C:p.R239T;ENSG00000091157:ENST00000357574:exon7:c.G716C:p.R239T;	0.988842610882623	0.8
18	54354204	G	T	18	56686973	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.G716T:p.R239M;WDR7:NM_052834:exon7:c.G716T:p.R239M;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G716T:p.R239M;ENSG00000091157:ENST00000357574:exon7:c.G716T:p.R239M;	0.99310740230534	0.898
18	54354205	G	A	18	56686974	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon7:c.G717A:p.R239R;WDR7:NM_052834:exon7:c.G717A:p.R239R;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G717A:p.R239R;ENSG00000091157:ENST00000357574:exon7:c.G717A:p.R239R;	0.999424523751925	0.986
18	54354205	G	C	18	56686974	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.G717C:p.R239S;WDR7:NM_052834:exon7:c.G717C:p.R239S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G717C:p.R239S;ENSG00000091157:ENST00000357574:exon7:c.G717C:p.R239S;	0.999992160485037	0.992
18	54354205	G	T	18	56686974	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon7:c.G717T:p.R239S;WDR7:NM_052834:exon7:c.G717T:p.R239S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon7:c.G717T:p.R239S;ENSG00000091157:ENST00000357574:exon7:c.G717T:p.R239S;	0.999945555110387	0.984
18	54354206	G	A	18	56686975	y	y	splicing	WDR7(NM_052834:exon7:c.717+1G>A;NM_015285:exon7:c.717+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.717+1G>A;ENST00000254442:exon7:c.717+1G>A)	.	.	0.999981760802075	0.944
18	54354206	G	C	18	56686975	y	y	splicing	WDR7(NM_052834:exon7:c.717+1G>C;NM_015285:exon7:c.717+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.717+1G>C;ENST00000254442:exon7:c.717+1G>C)	.	.	0.999981760802075	0.944
18	54354206	G	T	18	56686975	y	y	splicing	WDR7(NM_052834:exon7:c.717+1G>T;NM_015285:exon7:c.717+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.717+1G>T;ENST00000254442:exon7:c.717+1G>T)	.	.	0.999981760802075	0.944
18	54354207	T	A	18	56686976	y	y	splicing	WDR7(NM_052834:exon7:c.717+2T>A;NM_015285:exon7:c.717+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.717+2T>A;ENST00000254442:exon7:c.717+2T>A)	.	.	0.999989917668626	0.928
18	54354207	T	C	18	56686976	y	y	splicing	WDR7(NM_052834:exon7:c.717+2T>C;NM_015285:exon7:c.717+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.717+2T>C;ENST00000254442:exon7:c.717+2T>C)	.	.	0.999927265809569	0.894
18	54354207	T	G	18	56686976	y	y	splicing	WDR7(NM_052834:exon7:c.717+2T>G;NM_015285:exon7:c.717+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon7:c.717+2T>G;ENST00000254442:exon7:c.717+2T>G)	.	.	0.999989917668626	0.928
18	54354208	A	C	18	56686977	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999172678286027	0.868
18	54354208	A	G	18	56686977	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.351627235831551	0.484
18	54354208	A	T	18	56686977	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999694209743961	0.898
18	54354209	A	C	18	56686978	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996628414108552	0.844
18	54354209	A	G	18	56686978	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997146094134948	0.938
18	54354209	A	T	18	56686978	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996438381773856	0.93
18	54354210	G	A	18	56686979	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996620372619751	0.978
18	54354210	G	C	18	56686979	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999346441305523	0.992
18	54354210	G	T	18	56686979	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998856660466313	0.916
18	54354211	A	C	18	56686980	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.71472534838671E-4	0.052
18	54354211	A	G	18	56686980	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.11238896174305E-5	0.004
18	54354211	A	T	18	56686980	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.58601396562738E-5	0.006
18	54354212	T	A	18	56686981	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.15475405741962E-4	0.01
18	54354212	T	C	18	56686981	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.26851081537108E-4	0.01
18	54354212	T	G	18	56686981	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.99608135225178E-5	0.0
18	54354213	A	C	18	56686982	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.32665211453424E-4	0.002
18	54354213	A	G	18	56686982	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.87330774241225E-4	0.002
18	54354213	A	T	18	56686982	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.83366859152057E-4	0.004
18	54358435	T	A	18	56691204	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.84626369217358E-4	0.076
18	54358435	T	C	18	56691204	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.41726139919221E-4	0.006
18	54358435	T	G	18	56691204	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.03773145908144E-4	0.06
18	54358436	C	A	18	56691205	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.7114236574808E-5	0.014
18	54358436	C	G	18	56691205	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.38591461453026E-5	0.0
18	54358436	C	T	18	56691205	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.23079100050796E-5	0.0
18	54358437	T	A	18	56691206	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.50050068495929E-4	0.05
18	54358437	T	C	18	56691206	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.18150166328584E-4	0.006
18	54358437	T	G	18	56691206	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.58847385297376E-4	0.07
18	54358438	T	A	18	56691207	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00525135905220263	0.092
18	54358438	T	C	18	56691207	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00111845314283617	0.094
18	54358438	T	G	18	56691207	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00668627386491894	0.074
18	54358439	C	A	18	56691208	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.78178809135513E-4	0.034
18	54358439	C	G	18	56691208	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.05009555320461E-4	0.026
18	54358439	C	T	18	56691208	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.4003549444541E-5	0.002
18	54358440	C	A	18	56691209	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0030971726474106	0.08
18	54358440	C	G	18	56691209	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00306451136842779	0.056
18	54358440	C	T	18	56691209	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.78405763839926E-4	0.034
18	54358441	T	A	18	56691210	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.10560720015402E-4	0.054
18	54358441	T	C	18	56691210	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.05818541526654E-4	0.004
18	54358441	T	G	18	56691210	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.58915111224279E-4	0.066
18	54358442	T	A	18	56691211	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.981927326985277	0.712
18	54358442	T	C	18	56691211	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00268509758318771	0.02
18	54358442	T	G	18	56691211	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00175794855643552	0.068
18	54358443	G	A	18	56691212	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.24294283316207E-4	0.012
18	54358443	G	C	18	56691212	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.52251252887791E-4	0.006
18	54358443	G	T	18	56691212	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.43903814675916E-4	0.008
18	54358444	C	A	18	56691213	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.246823928294051	0.328
18	54358444	C	G	18	56691213	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.988908855912041	0.658
18	54358444	C	T	18	56691213	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00144250169450036	0.138
18	54358445	A	C	18	56691214	y	y	splicing	WDR7(NM_052834:exon8:c.718-2A>C;NM_015285:exon8:c.718-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.718-2A>C;ENST00000254442:exon8:c.718-2A>C)	.	.	0.999992446697775	0.93
18	54358445	A	G	18	56691214	y	y	splicing	WDR7(NM_052834:exon8:c.718-2A>G;NM_015285:exon8:c.718-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.718-2A>G;ENST00000254442:exon8:c.718-2A>G)	.	.	0.999992446697775	0.93
18	54358445	A	T	18	56691214	y	y	splicing	WDR7(NM_052834:exon8:c.718-2A>T;NM_015285:exon8:c.718-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.718-2A>T;ENST00000254442:exon8:c.718-2A>T)	.	.	0.999992446697775	0.932
18	54358446	G	A	18	56691215	y	y	splicing	WDR7(NM_052834:exon8:c.718-1G>A;NM_015285:exon8:c.718-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.718-1G>A;ENST00000254442:exon8:c.718-1G>A)	.	.	0.999990361384395	0.926
18	54358446	G	C	18	56691215	y	y	splicing	WDR7(NM_052834:exon8:c.718-1G>C;NM_015285:exon8:c.718-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.718-1G>C;ENST00000254442:exon8:c.718-1G>C)	.	.	0.999990361384395	0.926
18	54358446	G	T	18	56691215	y	y	splicing	WDR7(NM_052834:exon8:c.718-1G>T;NM_015285:exon8:c.718-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.718-1G>T;ENST00000254442:exon8:c.718-1G>T)	.	.	0.999990361384395	0.926
18	54358447	G	A	18	56691216	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.G718A:p.V240M;WDR7:NM_052834:exon8:c.G718A:p.V240M;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.G718A:p.V240M;ENSG00000091157:ENST00000357574:exon8:c.G718A:p.V240M;	0.995044461450686	0.608
18	54358447	G	C	18	56691216	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.G718C:p.V240L;WDR7:NM_052834:exon8:c.G718C:p.V240L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.G718C:p.V240L;ENSG00000091157:ENST00000357574:exon8:c.G718C:p.V240L;	0.999122779694381	0.708
18	54358447	G	T	18	56691216	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.G718T:p.V240L;WDR7:NM_052834:exon8:c.G718T:p.V240L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.G718T:p.V240L;ENSG00000091157:ENST00000357574:exon8:c.G718T:p.V240L;	0.999044391235921	0.704
18	54358448	T	A	18	56691217	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.T719A:p.V240E;WDR7:NM_052834:exon8:c.T719A:p.V240E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.T719A:p.V240E;ENSG00000091157:ENST00000357574:exon8:c.T719A:p.V240E;	0.00975597799875078	0.112
18	54358448	T	C	18	56691217	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.T719C:p.V240A;WDR7:NM_052834:exon8:c.T719C:p.V240A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.T719C:p.V240A;ENSG00000091157:ENST00000357574:exon8:c.T719C:p.V240A;	0.0120982691109821	0.066
18	54358448	T	G	18	56691217	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.T719G:p.V240G;WDR7:NM_052834:exon8:c.T719G:p.V240G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.T719G:p.V240G;ENSG00000091157:ENST00000357574:exon8:c.T719G:p.V240G;	0.00869963274473752	0.054
18	54358590	C	A	18	56691359	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon8:c.C861A:p.A287A;WDR7:NM_052834:exon8:c.C861A:p.A287A;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.C861A:p.A287A;ENSG00000091157:ENST00000357574:exon8:c.C861A:p.A287A;	4.84402417510282E-5	0.044
18	54358590	C	G	18	56691359	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon8:c.C861G:p.A287A;WDR7:NM_052834:exon8:c.C861G:p.A287A;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.C861G:p.A287A;ENSG00000091157:ENST00000357574:exon8:c.C861G:p.A287A;	1.60378858903027E-4	0.038
18	54358590	C	T	18	56691359	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon8:c.C861T:p.A287A;WDR7:NM_052834:exon8:c.C861T:p.A287A;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.C861T:p.A287A;ENSG00000091157:ENST00000357574:exon8:c.C861T:p.A287A;	0.0170331370814106	0.406
18	54358591	A	C	18	56691360	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.A862C:p.S288R;WDR7:NM_052834:exon8:c.A862C:p.S288R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.A862C:p.S288R;ENSG00000091157:ENST00000357574:exon8:c.A862C:p.S288R;	0.998918047877959	0.964
18	54358591	A	G	18	56691360	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.A862G:p.S288G;WDR7:NM_052834:exon8:c.A862G:p.S288G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.A862G:p.S288G;ENSG00000091157:ENST00000357574:exon8:c.A862G:p.S288G;	0.999679757869343	0.986
18	54358591	A	T	18	56691360	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.A862T:p.S288C;WDR7:NM_052834:exon8:c.A862T:p.S288C;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.A862T:p.S288C;ENSG00000091157:ENST00000357574:exon8:c.A862T:p.S288C;	0.999848976632058	0.998
18	54358592	G	A	18	56691361	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.G863A:p.S288N;WDR7:NM_052834:exon8:c.G863A:p.S288N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.G863A:p.S288N;ENSG00000091157:ENST00000357574:exon8:c.G863A:p.S288N;	0.999771292982422	0.936
18	54358592	G	C	18	56691361	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.G863C:p.S288T;WDR7:NM_052834:exon8:c.G863C:p.S288T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.G863C:p.S288T;ENSG00000091157:ENST00000357574:exon8:c.G863C:p.S288T;	0.999992640877976	0.988
18	54358592	G	T	18	56691361	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon8:c.G863T:p.S288I;WDR7:NM_052834:exon8:c.G863T:p.S288I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon8:c.G863T:p.S288I;ENSG00000091157:ENST00000357574:exon8:c.G863T:p.S288I;	0.999991713128196	0.98
18	54358593	G	A	18	56691362	y	y	splicing	WDR7(NM_052834:exon8:c.863+1G>A;NM_015285:exon8:c.863+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.863+1G>A;ENST00000254442:exon8:c.863+1G>A)	.	.	0.999990361384395	0.926
18	54358593	G	C	18	56691362	y	y	splicing	WDR7(NM_052834:exon8:c.863+1G>C;NM_015285:exon8:c.863+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.863+1G>C;ENST00000254442:exon8:c.863+1G>C)	.	.	0.999990361384395	0.926
18	54358593	G	T	18	56691362	y	y	splicing	WDR7(NM_052834:exon8:c.863+1G>T;NM_015285:exon8:c.863+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.863+1G>T;ENST00000254442:exon8:c.863+1G>T)	.	.	0.999990361384395	0.926
18	54358594	T	A	18	56691363	y	y	splicing	WDR7(NM_052834:exon8:c.863+2T>A;NM_015285:exon8:c.863+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.863+2T>A;ENST00000254442:exon8:c.863+2T>A)	.	.	0.999992446697775	0.932
18	54358594	T	C	18	56691363	y	y	splicing	WDR7(NM_052834:exon8:c.863+2T>C;NM_015285:exon8:c.863+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.863+2T>C;ENST00000254442:exon8:c.863+2T>C)	.	.	0.993808943985639	0.64
18	54358594	T	G	18	56691363	y	y	splicing	WDR7(NM_052834:exon8:c.863+2T>G;NM_015285:exon8:c.863+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon8:c.863+2T>G;ENST00000254442:exon8:c.863+2T>G)	.	.	0.999992446697775	0.932
18	54358595	A	C	18	56691364	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999846167558084	0.924
18	54358595	A	G	18	56691364	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.984151040684224	0.822
18	54358595	A	T	18	56691364	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999256310324548	0.882
18	54358596	T	A	18	56691365	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.34763007917283E-4	0.062
18	54358596	T	C	18	56691365	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.29670204971949E-4	0.002
18	54358596	T	G	18	56691365	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.32493531641584E-4	0.008
18	54358597	G	A	18	56691366	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.582156671170067	0.434
18	54358597	G	C	18	56691366	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.501833630312769	0.43
18	54358597	G	T	18	56691366	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.96228053088779	0.582
18	54358598	C	A	18	56691367	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.88894796888598E-4	0.022
18	54358598	C	G	18	56691367	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.85773636285661E-4	0.026
18	54358598	C	T	18	56691367	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.10561596892728E-4	0.002
18	54358599	A	C	18	56691368	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00255900555119354	0.018
18	54358599	A	G	18	56691368	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00274604451842238	0.02
18	54358599	A	T	18	56691368	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00313382616846677	0.024
18	54358600	G	A	18	56691369	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.49218586110481E-5	0.0
18	54358600	G	C	18	56691369	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.78958691012223E-5	0.0
18	54358600	G	T	18	56691369	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.78958691012223E-5	0.0
18	54358934	T	A	18	56691703	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00147830959308454	0.09
18	54358934	T	C	18	56691703	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.69363598050225E-4	0.014
18	54358934	T	G	18	56691703	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00140222693968871	0.082
18	54358935	C	A	18	56691704	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.77895076497212E-4	0.048
18	54358935	C	G	18	56691704	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.05738082734697E-4	0.032
18	54358935	C	T	18	56691704	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.55908716824608E-5	0.0
18	54358936	C	A	18	56691705	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.60728939480115E-4	0.04
18	54358936	C	G	18	56691705	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.24058075347815E-4	0.034
18	54358936	C	T	18	56691705	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.25949955711537E-5	0.002
18	54358937	C	A	18	56691706	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00351344051568776	0.038
18	54358937	C	G	18	56691706	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0123926337258164	0.074
18	54358937	C	T	18	56691706	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.64663921995005E-5	0.008
18	54358938	A	C	18	56691707	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.00411245322865E-4	0.012
18	54358938	A	G	18	56691707	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.22072314157215E-4	0.006
18	54358938	A	T	18	56691707	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.60854351609373E-5	0.008
18	54358939	T	A	18	56691708	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00511767856678562	0.088
18	54358939	T	C	18	56691708	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.33264106164912E-5	0.048
18	54358939	T	G	18	56691708	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999937635955981	0.996
18	54358940	A	C	18	56691709	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.17440144012005E-5	0.002
18	54358940	A	G	18	56691709	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.05351125989025E-5	0.014
18	54358940	A	T	18	56691709	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.0708431882427E-5	0.004
18	54358941	T	A	18	56691710	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.777264921877759	0.484
18	54358941	T	C	18	56691710	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0398405118913283	0.246
18	54358941	T	G	18	56691710	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999982650292833	0.96
18	54358942	T	A	18	56691711	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00511168268031211	0.018
18	54358942	T	C	18	56691711	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0012865277396212	0.01
18	54358942	T	G	18	56691711	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00544620099723804	0.17
18	54358943	C	A	18	56691712	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.914794108337161	0.816
18	54358943	C	G	18	56691712	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999116326788157	0.792
18	54358943	C	T	18	56691712	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0234233877230816	0.1
18	54358944	A	C	18	56691713	y	y	splicing	WDR7(NM_052834:exon9:c.864-2A>C;NM_015285:exon9:c.864-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.864-2A>C;ENST00000254442:exon9:c.864-2A>C)	.	.	0.999994064153128	0.936
18	54358944	A	G	18	56691713	y	y	splicing	WDR7(NM_052834:exon9:c.864-2A>G;NM_015285:exon9:c.864-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.864-2A>G;ENST00000254442:exon9:c.864-2A>G)	.	.	0.999994064153128	0.936
18	54358944	A	T	18	56691713	y	y	splicing	WDR7(NM_052834:exon9:c.864-2A>T;NM_015285:exon9:c.864-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.864-2A>T;ENST00000254442:exon9:c.864-2A>T)	.	.	0.999994064153128	0.936
18	54358945	G	A	18	56691714	y	y	splicing	WDR7(NM_052834:exon9:c.864-1G>A;NM_015285:exon9:c.864-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.864-1G>A;ENST00000254442:exon9:c.864-1G>A)	.	.	0.999992425382947	0.92
18	54358945	G	C	18	56691714	y	y	splicing	WDR7(NM_052834:exon9:c.864-1G>C;NM_015285:exon9:c.864-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.864-1G>C;ENST00000254442:exon9:c.864-1G>C)	.	.	0.999992425382947	0.92
18	54358945	G	T	18	56691714	y	y	splicing	WDR7(NM_052834:exon9:c.864-1G>T;NM_015285:exon9:c.864-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.864-1G>T;ENST00000254442:exon9:c.864-1G>T)	.	.	0.999992425382947	0.92
18	54358946	T	A	18	56691715	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.T864A:p.S288R;WDR7:NM_052834:exon9:c.T864A:p.S288R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.T864A:p.S288R;ENSG00000091157:ENST00000357574:exon9:c.T864A:p.S288R;	0.00252510770026926	0.026
18	54358946	T	C	18	56691715	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon9:c.T864C:p.S288S;WDR7:NM_052834:exon9:c.T864C:p.S288S;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.T864C:p.S288S;ENSG00000091157:ENST00000357574:exon9:c.T864C:p.S288S;	0.00980403465578843	0.038
18	54358946	T	G	18	56691715	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.T864G:p.S288R;WDR7:NM_052834:exon9:c.T864G:p.S288R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.T864G:p.S288R;ENSG00000091157:ENST00000357574:exon9:c.T864G:p.S288R;	0.00604862451129275	0.092
18	54358947	T	A	18	56691716	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.T865A:p.C289S;WDR7:NM_052834:exon9:c.T865A:p.C289S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.T865A:p.C289S;ENSG00000091157:ENST00000357574:exon9:c.T865A:p.C289S;	0.122485326504691	0.194
18	54358947	T	C	18	56691716	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.T865C:p.C289R;WDR7:NM_052834:exon9:c.T865C:p.C289R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.T865C:p.C289R;ENSG00000091157:ENST00000357574:exon9:c.T865C:p.C289R;	0.766338759315714	0.34
18	54358947	T	G	18	56691716	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.T865G:p.C289G;WDR7:NM_052834:exon9:c.T865G:p.C289G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.T865G:p.C289G;ENSG00000091157:ENST00000357574:exon9:c.T865G:p.C289G;	0.342382470108542	0.212
18	54359046	G	A	18	56691815	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.G964A:p.E322K;WDR7:NM_052834:exon9:c.G964A:p.E322K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.G964A:p.E322K;ENSG00000091157:ENST00000357574:exon9:c.G964A:p.E322K;	0.00831257205857034	0.056
18	54359046	G	C	18	56691815	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.G964C:p.E322Q;WDR7:NM_052834:exon9:c.G964C:p.E322Q;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.G964C:p.E322Q;ENSG00000091157:ENST00000357574:exon9:c.G964C:p.E322Q;	0.00404143099638877	0.046
18	54359046	G	T	18	56691815	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon9:c.G964T:p.E322X;WDR7:NM_052834:exon9:c.G964T:p.E322X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon9:c.G964T:p.E322X;ENSG00000091157:ENST00000357574:exon9:c.G964T:p.E322X;	0.997217121824473	0.77
18	54359047	A	C	18	56691816	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.A965C:p.E322A;WDR7:NM_052834:exon9:c.A965C:p.E322A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.A965C:p.E322A;ENSG00000091157:ENST00000357574:exon9:c.A965C:p.E322A;	0.997597438857619	0.908
18	54359047	A	G	18	56691816	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.A965G:p.E322G;WDR7:NM_052834:exon9:c.A965G:p.E322G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.A965G:p.E322G;ENSG00000091157:ENST00000357574:exon9:c.A965G:p.E322G;	0.999697008594867	0.966
18	54359047	A	T	18	56691816	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.A965T:p.E322V;WDR7:NM_052834:exon9:c.A965T:p.E322V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.A965T:p.E322V;ENSG00000091157:ENST00000357574:exon9:c.A965T:p.E322V;	0.999534721725482	0.966
18	54359048	G	A	18	56691817	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon9:c.G966A:p.E322E;WDR7:NM_052834:exon9:c.G966A:p.E322E;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.G966A:p.E322E;ENSG00000091157:ENST00000357574:exon9:c.G966A:p.E322E;	0.999989533187485	0.996
18	54359048	G	C	18	56691817	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.G966C:p.E322D;WDR7:NM_052834:exon9:c.G966C:p.E322D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.G966C:p.E322D;ENSG00000091157:ENST00000357574:exon9:c.G966C:p.E322D;	0.999996943867383	1.0
18	54359048	G	T	18	56691817	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon9:c.G966T:p.E322D;WDR7:NM_052834:exon9:c.G966T:p.E322D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon9:c.G966T:p.E322D;ENSG00000091157:ENST00000357574:exon9:c.G966T:p.E322D;	0.99999377961789	1.0
18	54359049	G	A	18	56691818	y	y	splicing	WDR7(NM_052834:exon9:c.966+1G>A;NM_015285:exon9:c.966+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.966+1G>A;ENST00000254442:exon9:c.966+1G>A)	.	.	0.999991412108771	0.936
18	54359049	G	C	18	56691818	y	y	splicing	WDR7(NM_052834:exon9:c.966+1G>C;NM_015285:exon9:c.966+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.966+1G>C;ENST00000254442:exon9:c.966+1G>C)	.	.	0.999991412108771	0.936
18	54359049	G	T	18	56691818	y	y	splicing	WDR7(NM_052834:exon9:c.966+1G>T;NM_015285:exon9:c.966+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.966+1G>T;ENST00000254442:exon9:c.966+1G>T)	.	.	0.999991412108771	0.936
18	54359050	T	A	18	56691819	y	y	splicing	WDR7(NM_052834:exon9:c.966+2T>A;NM_015285:exon9:c.966+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.966+2T>A;ENST00000254442:exon9:c.966+2T>A)	.	.	0.999990764389106	0.934
18	54359050	T	C	18	56691819	y	y	splicing	WDR7(NM_052834:exon9:c.966+2T>C;NM_015285:exon9:c.966+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.966+2T>C;ENST00000254442:exon9:c.966+2T>C)	.	.	0.993745131907064	0.676
18	54359050	T	G	18	56691819	y	y	splicing	WDR7(NM_052834:exon9:c.966+2T>G;NM_015285:exon9:c.966+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon9:c.966+2T>G;ENST00000254442:exon9:c.966+2T>G)	.	.	0.999990764389106	0.934
18	54359051	A	C	18	56691820	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999939097943979	0.982
18	54359051	A	G	18	56691820	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998851628904978	0.96
18	54359051	A	T	18	56691820	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99991256867203	0.986
18	54359052	A	C	18	56691821	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.973410850627858	0.712
18	54359052	A	G	18	56691821	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.989849914467952	0.898
18	54359052	A	T	18	56691821	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99711231867117	0.854
18	54359053	A	C	18	56691822	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0299110762889272	0.198
18	54359053	A	G	18	56691822	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.43887891364786E-4	0.054
18	54359053	A	T	18	56691822	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00561805164594303	0.128
18	54359054	A	C	18	56691823	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.12640575649746E-4	0.026
18	54359054	A	G	18	56691823	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.13268815783945E-5	0.008
18	54359054	A	T	18	56691823	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.33953250706751E-5	0.012
18	54359055	T	A	18	56691824	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.03382751846814E-4	0.008
18	54359055	T	C	18	56691824	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.83167101021935E-5	0.008
18	54359055	T	G	18	56691824	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.83167101021935E-5	0.01
18	54359056	T	A	18	56691825	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00391186463015317	0.002
18	54359056	T	C	18	56691825	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.55287224852594E-4	0.034
18	54359056	T	G	18	56691825	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00306891794228622	0.002
18	54361838	T	A	18	56694607	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0654063841723244	0.418
18	54361838	T	C	18	56694607	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00488904395667555	0.126
18	54361838	T	G	18	56694607	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0356645488566007	0.424
18	54361839	T	A	18	56694608	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.904420527317515	0.566
18	54361839	T	C	18	56694608	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0126363973620769	0.184
18	54361839	T	G	18	56694608	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.596543318286262	0.462
18	54361840	T	A	18	56694609	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.942213844921646	0.692
18	54361840	T	C	18	56694609	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0161599348346691	0.18
18	54361840	T	G	18	56694609	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.776641277938856	0.592
18	54361841	T	A	18	56694610	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.467596743236192	0.598
18	54361841	T	C	18	56694610	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.23756259758733E-4	0.042
18	54361841	T	G	18	56694610	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.184073286812297	0.54
18	54361842	T	A	18	56694611	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0344015923758866	0.17
18	54361842	T	C	18	56694611	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.18432035990523E-5	0.006
18	54361842	T	G	18	56694611	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00409301684907747	0.09
18	54361843	T	A	18	56694612	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0168640366196425	0.256
18	54361843	T	C	18	56694612	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.85327410314358E-4	0.008
18	54361843	T	G	18	56694612	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.102033585014385	0.204
18	54361844	T	A	18	56694613	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999930092422136	0.978
18	54361844	T	C	18	56694613	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.20513581713364E-4	0.006
18	54361844	T	G	18	56694613	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0635339543694101	0.432
18	54361845	G	A	18	56694614	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.915826312499424	0.824
18	54361845	G	C	18	56694614	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.47070192602407E-5	0.002
18	54361845	G	T	18	56694614	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.02141852221052E-4	0.01
18	54361846	G	A	18	56694615	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.10815783665061E-4	0.002
18	54361846	G	C	18	56694615	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.99858688963574E-5	0.0
18	54361846	G	T	18	56694615	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.21135607001367E-4	0.012
18	54361847	C	A	18	56694616	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999836785752049	0.962
18	54361847	C	G	18	56694616	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99996327718907	0.99
18	54361847	C	T	18	56694616	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.823556504457854	0.434
18	54361848	A	C	18	56694617	y	y	splicing	WDR7(NM_052834:exon10:c.967-2A>C;NM_015285:exon10:c.967-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.967-2A>C;ENST00000254442:exon10:c.967-2A>C)	.	.	0.999988247793601	0.95
18	54361848	A	G	18	56694617	y	y	splicing	WDR7(NM_052834:exon10:c.967-2A>G;NM_015285:exon10:c.967-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.967-2A>G;ENST00000254442:exon10:c.967-2A>G)	.	.	0.999988247793601	0.95
18	54361848	A	T	18	56694617	y	y	splicing	WDR7(NM_052834:exon10:c.967-2A>T;NM_015285:exon10:c.967-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.967-2A>T;ENST00000254442:exon10:c.967-2A>T)	.	.	0.999988247793601	0.95
18	54361849	G	A	18	56694618	y	y	splicing	WDR7(NM_052834:exon10:c.967-1G>A;NM_015285:exon10:c.967-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.967-1G>A;ENST00000254442:exon10:c.967-1G>A)	.	.	0.999986675681007	0.95
18	54361849	G	C	18	56694618	y	y	splicing	WDR7(NM_052834:exon10:c.967-1G>C;NM_015285:exon10:c.967-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.967-1G>C;ENST00000254442:exon10:c.967-1G>C)	.	.	0.999986675681007	0.95
18	54361849	G	T	18	56694618	y	y	splicing	WDR7(NM_052834:exon10:c.967-1G>T;NM_015285:exon10:c.967-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.967-1G>T;ENST00000254442:exon10:c.967-1G>T)	.	.	0.999986675681007	0.95
18	54361850	T	A	18	56694619	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.T967A:p.L323M;WDR7:NM_052834:exon10:c.T967A:p.L323M;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.T967A:p.L323M;ENSG00000091157:ENST00000357574:exon10:c.T967A:p.L323M;	6.24845401645631E-4	0.242
18	54361850	T	C	18	56694619	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon10:c.T967C:p.L323L;WDR7:NM_052834:exon10:c.T967C:p.L323L;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.T967C:p.L323L;ENSG00000091157:ENST00000357574:exon10:c.T967C:p.L323L;	1.11815598670696E-4	0.048
18	54361850	T	G	18	56694619	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.T967G:p.L323V;WDR7:NM_052834:exon10:c.T967G:p.L323V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.T967G:p.L323V;ENSG00000091157:ENST00000357574:exon10:c.T967G:p.L323V;	3.33009857548998E-4	0.22
18	54361851	T	A	18	56694620	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon10:c.T968A:p.L323X;WDR7:NM_052834:exon10:c.T968A:p.L323X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon10:c.T968A:p.L323X;ENSG00000091157:ENST00000357574:exon10:c.T968A:p.L323X;	0.883419146900778	0.578
18	54361851	T	C	18	56694620	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.T968C:p.L323S;WDR7:NM_052834:exon10:c.T968C:p.L323S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.T968C:p.L323S;ENSG00000091157:ENST00000357574:exon10:c.T968C:p.L323S;	0.0214363097431205	0.154
18	54361851	T	G	18	56694620	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.T968G:p.L323W;WDR7:NM_052834:exon10:c.T968G:p.L323W;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.T968G:p.L323W;ENSG00000091157:ENST00000357574:exon10:c.T968G:p.L323W;	0.789035610302404	0.436
18	54361989	A	C	18	56694758	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.A1106C:p.E369A;WDR7:NM_052834:exon10:c.A1106C:p.E369A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.A1106C:p.E369A;ENSG00000091157:ENST00000357574:exon10:c.A1106C:p.E369A;	2.20900337889617E-5	0.0
18	54361989	A	G	18	56694758	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.A1106G:p.E369G;WDR7:NM_052834:exon10:c.A1106G:p.E369G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.A1106G:p.E369G;ENSG00000091157:ENST00000357574:exon10:c.A1106G:p.E369G;	8.68907324686897E-4	0.114
18	54361989	A	T	18	56694758	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.A1106T:p.E369V;WDR7:NM_052834:exon10:c.A1106T:p.E369V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.A1106T:p.E369V;ENSG00000091157:ENST00000357574:exon10:c.A1106T:p.E369V;	0.0049767064215015	0.244
18	54361990	A	C	18	56694759	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.A1107C:p.E369D;WDR7:NM_052834:exon10:c.A1107C:p.E369D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.A1107C:p.E369D;ENSG00000091157:ENST00000357574:exon10:c.A1107C:p.E369D;	0.540517036708629	0.664
18	54361990	A	G	18	56694759	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon10:c.A1107G:p.E369E;WDR7:NM_052834:exon10:c.A1107G:p.E369E;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.A1107G:p.E369E;ENSG00000091157:ENST00000357574:exon10:c.A1107G:p.E369E;	0.927315330453195	0.708
18	54361990	A	T	18	56694759	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.A1107T:p.E369D;WDR7:NM_052834:exon10:c.A1107T:p.E369D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.A1107T:p.E369D;ENSG00000091157:ENST00000357574:exon10:c.A1107T:p.E369D;	0.963629836040848	0.658
18	54361991	G	A	18	56694760	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.G1108A:p.G370R;WDR7:NM_052834:exon10:c.G1108A:p.G370R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.G1108A:p.G370R;ENSG00000091157:ENST00000357574:exon10:c.G1108A:p.G370R;	0.999970644737515	0.962
18	54361991	G	C	18	56694760	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.G1108C:p.G370R;WDR7:NM_052834:exon10:c.G1108C:p.G370R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.G1108C:p.G370R;ENSG00000091157:ENST00000357574:exon10:c.G1108C:p.G370R;	0.999954672742124	0.958
18	54361991	G	T	18	56694760	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon10:c.G1108T:p.G370W;WDR7:NM_052834:exon10:c.G1108T:p.G370W;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon10:c.G1108T:p.G370W;ENSG00000091157:ENST00000357574:exon10:c.G1108T:p.G370W;	0.999971715883838	0.936
18	54361992	G	A	18	56694761	y	y	splicing	WDR7(NM_052834:exon10:c.1108+1G>A;NM_015285:exon10:c.1108+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.1108+1G>A;ENST00000254442:exon10:c.1108+1G>A)	.	.	0.999945678610088	0.924
18	54361992	G	C	18	56694761	y	y	splicing	WDR7(NM_052834:exon10:c.1108+1G>C;NM_015285:exon10:c.1108+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.1108+1G>C;ENST00000254442:exon10:c.1108+1G>C)	.	.	0.999943783836845	0.924
18	54361992	G	T	18	56694761	y	y	splicing	WDR7(NM_052834:exon10:c.1108+1G>T;NM_015285:exon10:c.1108+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.1108+1G>T;ENST00000254442:exon10:c.1108+1G>T)	.	.	0.999945678610088	0.922
18	54361993	T	A	18	56694762	y	y	splicing	WDR7(NM_052834:exon10:c.1108+2T>A;NM_015285:exon10:c.1108+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.1108+2T>A;ENST00000254442:exon10:c.1108+2T>A)	.	.	0.999966514958823	0.918
18	54361993	T	C	18	56694762	y	y	splicing	WDR7(NM_052834:exon10:c.1108+2T>C;NM_015285:exon10:c.1108+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.1108+2T>C;ENST00000254442:exon10:c.1108+2T>C)	.	.	0.973847692175948	0.612
18	54361993	T	G	18	56694762	y	y	splicing	WDR7(NM_052834:exon10:c.1108+2T>G;NM_015285:exon10:c.1108+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon10:c.1108+2T>G;ENST00000254442:exon10:c.1108+2T>G)	.	.	0.999966514958823	0.902
18	54361994	A	C	18	56694763	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999799789462485	0.942
18	54361994	A	G	18	56694763	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.916155129516631	0.596
18	54361994	A	T	18	56694763	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999749097295573	0.922
18	54361995	A	C	18	56694764	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.016775543126354	0.37
18	54361995	A	G	18	56694764	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.606326076096669	0.482
18	54361995	A	T	18	56694764	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0756493378789264	0.39
18	54361996	T	A	18	56694765	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.0090361802685E-5	0.01
18	54361996	T	C	18	56694765	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.76701236449405E-6	0.008
18	54361996	T	G	18	56694765	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.97230497230257E-5	0.008
18	54361997	A	C	18	56694766	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.1018066060829E-4	0.022
18	54361997	A	G	18	56694766	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.10344801576479E-4	0.002
18	54361997	A	T	18	56694766	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.30945123997424E-4	0.038
18	54361998	G	A	18	56694767	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.14075672545209E-5	0.0
18	54361998	G	C	18	56694767	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.69105291616084E-5	0.0
18	54361998	G	T	18	56694767	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.07030837235411E-4	0.052
18	54361999	T	A	18	56694768	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.7201332932028E-5	0.008
18	54361999	T	C	18	56694768	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.49194068713465E-4	0.026
18	54361999	T	G	18	56694768	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.40187973533031E-4	0.008
18	54362169	A	C	18	56694938	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07973714441348E-4	0.046
18	54362169	A	G	18	56694938	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.48686589556983E-4	0.084
18	54362169	A	T	18	56694938	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.70739854357288E-4	0.024
18	54362170	A	C	18	56694939	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00409184851390871	0.108
18	54362170	A	G	18	56694939	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999350099469561	0.92
18	54362170	A	T	18	56694939	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0311823815954695	0.222
18	54362171	A	C	18	56694940	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.83770895115199E-4	0.014
18	54362171	A	G	18	56694940	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999329716190171	0.982
18	54362171	A	T	18	56694940	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.05770890600402E-4	0.022
18	54362172	C	A	18	56694941	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0233093614830378	0.11
18	54362172	C	G	18	56694941	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999926662952253	0.98
18	54362172	C	T	18	56694941	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.80805587348495E-4	0.014
18	54362173	C	A	18	56694942	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00557119793772276	0.17
18	54362173	C	G	18	56694942	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00575780081773932	0.17
18	54362173	C	T	18	56694942	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.54191764854205E-4	0.004
18	54362174	T	A	18	56694943	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.595679757223945	0.588
18	54362174	T	C	18	56694943	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.58254449613532E-4	0.036
18	54362174	T	G	18	56694943	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.857004160774222	0.616
18	54362175	C	A	18	56694944	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.211922733391121	0.466
18	54362175	C	G	18	56694944	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.225696041631423	0.482
18	54362175	C	T	18	56694944	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.35244947559101E-5	0.006
18	54362176	T	A	18	56694945	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.279522506216791	0.52
18	54362176	T	C	18	56694945	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0025071732482131	0.134
18	54362176	T	G	18	56694945	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.963127648527597	0.678
18	54362177	A	C	18	56694946	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.58258143777667E-5	0.006
18	54362177	A	G	18	56694946	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.65438895107216E-5	0.022
18	54362177	A	T	18	56694946	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.66187424048328E-5	0.0
18	54362178	C	A	18	56694947	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.960939565362692	0.73
18	54362178	C	G	18	56694947	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.990958066882927	0.694
18	54362178	C	T	18	56694947	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.25969584033275E-4	0.186
18	54362179	A	C	18	56694948	y	y	splicing	WDR7(NM_052834:exon11:c.1109-2A>C;NM_015285:exon11:c.1109-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1109-2A>C;ENST00000254442:exon11:c.1109-2A>C)	.	.	0.999841751874665	0.804
18	54362179	A	G	18	56694948	y	y	splicing	WDR7(NM_052834:exon11:c.1109-2A>G;NM_015285:exon11:c.1109-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1109-2A>G;ENST00000254442:exon11:c.1109-2A>G)	.	.	0.999841751874665	0.8
18	54362179	A	T	18	56694948	y	y	splicing	WDR7(NM_052834:exon11:c.1109-2A>T;NM_015285:exon11:c.1109-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1109-2A>T;ENST00000254442:exon11:c.1109-2A>T)	.	.	0.999841751874665	0.812
18	54362180	G	A	18	56694949	y	y	splicing	WDR7(NM_052834:exon11:c.1109-1G>A;NM_015285:exon11:c.1109-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1109-1G>A;ENST00000254442:exon11:c.1109-1G>A)	.	.	0.999956772149723	0.866
18	54362180	G	C	18	56694949	y	y	splicing	WDR7(NM_052834:exon11:c.1109-1G>C;NM_015285:exon11:c.1109-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1109-1G>C;ENST00000254442:exon11:c.1109-1G>C)	.	.	0.999956772149723	0.822
18	54362180	G	T	18	56694949	y	y	splicing	WDR7(NM_052834:exon11:c.1109-1G>T;NM_015285:exon11:c.1109-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1109-1G>T;ENST00000254442:exon11:c.1109-1G>T)	.	.	0.999956772149723	0.848
18	54362181	G	A	18	56694950	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1109A:p.G370E;WDR7:NM_052834:exon11:c.G1109A:p.G370E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1109A:p.G370E;ENSG00000091157:ENST00000357574:exon11:c.G1109A:p.G370E;	0.00272134736419735	0.238
18	54362181	G	C	18	56694950	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1109C:p.G370A;WDR7:NM_052834:exon11:c.G1109C:p.G370A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1109C:p.G370A;ENSG00000091157:ENST00000357574:exon11:c.G1109C:p.G370A;	0.00138169744783456	0.306
18	54362181	G	T	18	56694950	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1109T:p.G370V;WDR7:NM_052834:exon11:c.G1109T:p.G370V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1109T:p.G370V;ENSG00000091157:ENST00000357574:exon11:c.G1109T:p.G370V;	0.162441215579767	0.356
18	54362182	G	A	18	56694951	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon11:c.G1110A:p.G370G;WDR7:NM_052834:exon11:c.G1110A:p.G370G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1110A:p.G370G;ENSG00000091157:ENST00000357574:exon11:c.G1110A:p.G370G;	7.00148195376296E-5	0.07
18	54362182	G	C	18	56694951	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon11:c.G1110C:p.G370G;WDR7:NM_052834:exon11:c.G1110C:p.G370G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1110C:p.G370G;ENSG00000091157:ENST00000357574:exon11:c.G1110C:p.G370G;	5.64106939195412E-5	0.056
18	54362182	G	T	18	56694951	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon11:c.G1110T:p.G370G;WDR7:NM_052834:exon11:c.G1110T:p.G370G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1110T:p.G370G;ENSG00000091157:ENST00000357574:exon11:c.G1110T:p.G370G;	6.09666442313371E-5	0.01
18	54362427	G	A	18	56695196	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1355A:p.R452K;WDR7:NM_052834:exon11:c.G1355A:p.R452K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1355A:p.R452K;ENSG00000091157:ENST00000357574:exon11:c.G1355A:p.R452K;	0.0081956612181255	0.096
18	54362427	G	C	18	56695196	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1355C:p.R452T;WDR7:NM_052834:exon11:c.G1355C:p.R452T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1355C:p.R452T;ENSG00000091157:ENST00000357574:exon11:c.G1355C:p.R452T;	0.94842033390483	0.612
18	54362427	G	T	18	56695196	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1355T:p.R452I;WDR7:NM_052834:exon11:c.G1355T:p.R452I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1355T:p.R452I;ENSG00000091157:ENST00000357574:exon11:c.G1355T:p.R452I;	0.994521393164301	0.666
18	54362428	A	C	18	56695197	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.A1356C:p.R452S;WDR7:NM_052834:exon11:c.A1356C:p.R452S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.A1356C:p.R452S;ENSG00000091157:ENST00000357574:exon11:c.A1356C:p.R452S;	0.992833195524781	0.924
18	54362428	A	G	18	56695197	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon11:c.A1356G:p.R452R;WDR7:NM_052834:exon11:c.A1356G:p.R452R;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.A1356G:p.R452R;ENSG00000091157:ENST00000357574:exon11:c.A1356G:p.R452R;	0.99987911499735	1.0
18	54362428	A	T	18	56695197	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.A1356T:p.R452S;WDR7:NM_052834:exon11:c.A1356T:p.R452S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.A1356T:p.R452S;ENSG00000091157:ENST00000357574:exon11:c.A1356T:p.R452S;	0.999442587137047	0.95
18	54362429	G	A	18	56695198	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1357A:p.G453S;WDR7:NM_052834:exon11:c.G1357A:p.G453S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1357A:p.G453S;ENSG00000091157:ENST00000357574:exon11:c.G1357A:p.G453S;	0.999993461717831	1.0
18	54362429	G	C	18	56695198	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1357C:p.G453R;WDR7:NM_052834:exon11:c.G1357C:p.G453R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1357C:p.G453R;ENSG00000091157:ENST00000357574:exon11:c.G1357C:p.G453R;	0.99999572714706	1.0
18	54362429	G	T	18	56695198	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon11:c.G1357T:p.G453C;WDR7:NM_052834:exon11:c.G1357T:p.G453C;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon11:c.G1357T:p.G453C;ENSG00000091157:ENST00000357574:exon11:c.G1357T:p.G453C;	0.999993585120544	1.0
18	54362430	G	A	18	56695199	y	y	splicing	WDR7(NM_052834:exon11:c.1357+1G>A;NM_015285:exon11:c.1357+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1357+1G>A;ENST00000254442:exon11:c.1357+1G>A)	.	.	0.999989072007339	0.95
18	54362430	G	C	18	56695199	y	y	splicing	WDR7(NM_052834:exon11:c.1357+1G>C;NM_015285:exon11:c.1357+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1357+1G>C;ENST00000254442:exon11:c.1357+1G>C)	.	.	0.999989072007339	0.95
18	54362430	G	T	18	56695199	y	y	splicing	WDR7(NM_052834:exon11:c.1357+1G>T;NM_015285:exon11:c.1357+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1357+1G>T;ENST00000254442:exon11:c.1357+1G>T)	.	.	0.999989072007339	0.95
18	54362431	T	A	18	56695200	y	y	splicing	WDR7(NM_052834:exon11:c.1357+2T>A;NM_015285:exon11:c.1357+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1357+2T>A;ENST00000254442:exon11:c.1357+2T>A)	.	.	0.999988247793601	0.952
18	54362431	T	C	18	56695200	y	y	splicing	WDR7(NM_052834:exon11:c.1357+2T>C;NM_015285:exon11:c.1357+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1357+2T>C;ENST00000254442:exon11:c.1357+2T>C)	.	.	0.991245725732999	0.67
18	54362431	T	G	18	56695200	y	y	splicing	WDR7(NM_052834:exon11:c.1357+2T>G;NM_015285:exon11:c.1357+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon11:c.1357+2T>G;ENST00000254442:exon11:c.1357+2T>G)	.	.	0.999988247793601	0.906
18	54362432	A	C	18	56695201	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99990267966866	0.828
18	54362432	A	G	18	56695201	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999284389779989	0.764
18	54362432	A	T	18	56695201	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999960172390592	0.89
18	54362433	T	A	18	56695202	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.91990972143469E-5	0.026
18	54362433	T	C	18	56695202	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.18400529717845E-5	0.012
18	54362433	T	G	18	56695202	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.11922590670406E-5	0.038
18	54362434	A	C	18	56695203	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.68847043807824E-4	0.04
18	54362434	A	G	18	56695203	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.91601064814691E-4	0.13
18	54362434	A	T	18	56695203	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.26510328374809E-4	0.018
18	54362435	C	A	18	56695204	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.0707576795195E-4	0.008
18	54362435	C	G	18	56695204	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.62473686094448E-4	0.006
18	54362435	C	T	18	56695204	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.50379652360767E-4	0.02
18	54362436	T	A	18	56695205	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.33285134764126E-6	0.002
18	54362436	T	C	18	56695205	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.33285134764126E-6	0.002
18	54362436	T	G	18	56695205	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.33285134764126E-6	0.002
18	54362437	G	A	18	56695206	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.7307013755684E-4	0.024
18	54362437	G	C	18	56695206	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.30723338287093E-4	0.038
18	54362437	G	T	18	56695206	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.60963638277186E-4	0.058
18	54363461	C	A	18	56696230	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00324125990626248	0.19
18	54363461	C	G	18	56696230	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0064351656972788	0.286
18	54363461	C	T	18	56696230	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.74567209658231E-5	0.072
18	54363462	C	A	18	56696231	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.79136865389212E-4	0.164
18	54363462	C	G	18	56696231	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.08980580529377E-4	0.074
18	54363462	C	T	18	56696231	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.85039435465842E-5	0.11
18	54363463	T	A	18	56696232	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.982944174528164	0.854
18	54363463	T	C	18	56696232	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00479551336995632	0.08
18	54363463	T	G	18	56696232	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.959769242050886	0.858
18	54363464	C	A	18	56696233	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0182148564763303	0.2
18	54363464	C	G	18	56696233	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0905424244970132	0.236
18	54363464	C	T	18	56696233	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00260247194110995	0.104
18	54363465	A	C	18	56696234	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.02573712190603E-5	0.0
18	54363465	A	G	18	56696234	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.12083245429175E-5	0.002
18	54363465	A	T	18	56696234	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.03488284773683E-5	0.0
18	54363466	T	A	18	56696235	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.982629920148527	0.848
18	54363466	T	C	18	56696235	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.51883931610194E-4	0.06
18	54363466	T	G	18	56696235	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99988258665156	0.972
18	54363467	T	A	18	56696236	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.280035834408687	0.472
18	54363467	T	C	18	56696236	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.77377215779507E-5	0.062
18	54363467	T	G	18	56696236	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.197496168359404	0.532
18	54363468	C	A	18	56696237	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00454982971466894	0.082
18	54363468	C	G	18	56696237	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00248182146152687	0.06
18	54363468	C	T	18	56696237	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.43182079372632E-4	0.03
18	54363469	A	C	18	56696238	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.71603083805918E-4	0.088
18	54363469	A	G	18	56696238	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.06992375518584E-4	0.002
18	54363469	A	T	18	56696238	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.75195634705309E-4	0.008
18	54363470	C	A	18	56696239	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99854517909409	0.83
18	54363470	C	G	18	56696239	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99995446012296	0.978
18	54363470	C	T	18	56696239	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.093185499974185	0.214
18	54363471	A	C	18	56696240	y	y	splicing	WDR7(NM_052834:exon12:c.1358-2A>C;NM_015285:exon12:c.1358-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1358-2A>C;ENST00000254442:exon12:c.1358-2A>C)	.	.	0.999992225159237	0.932
18	54363471	A	G	18	56696240	y	y	splicing	WDR7(NM_052834:exon12:c.1358-2A>G;NM_015285:exon12:c.1358-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1358-2A>G;ENST00000254442:exon12:c.1358-2A>G)	.	.	0.999992225159237	0.932
18	54363471	A	T	18	56696240	y	y	splicing	WDR7(NM_052834:exon12:c.1358-2A>T;NM_015285:exon12:c.1358-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1358-2A>T;ENST00000254442:exon12:c.1358-2A>T)	.	.	0.999992225159237	0.932
18	54363472	G	A	18	56696241	y	y	splicing	WDR7(NM_052834:exon12:c.1358-1G>A;NM_015285:exon12:c.1358-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1358-1G>A;ENST00000254442:exon12:c.1358-1G>A)	.	.	0.999993444959628	0.928
18	54363472	G	C	18	56696241	y	y	splicing	WDR7(NM_052834:exon12:c.1358-1G>C;NM_015285:exon12:c.1358-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1358-1G>C;ENST00000254442:exon12:c.1358-1G>C)	.	.	0.999993444959628	0.928
18	54363472	G	T	18	56696241	y	y	splicing	WDR7(NM_052834:exon12:c.1358-1G>T;NM_015285:exon12:c.1358-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1358-1G>T;ENST00000254442:exon12:c.1358-1G>T)	.	.	0.999993444959628	0.928
18	54363473	G	A	18	56696242	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.G1358A:p.G453D;WDR7:NM_052834:exon12:c.G1358A:p.G453D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.G1358A:p.G453D;ENSG00000091157:ENST00000357574:exon12:c.G1358A:p.G453D;	0.524715333104496	0.542
18	54363473	G	C	18	56696242	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.G1358C:p.G453A;WDR7:NM_052834:exon12:c.G1358C:p.G453A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.G1358C:p.G453A;ENSG00000091157:ENST00000357574:exon12:c.G1358C:p.G453A;	0.999903242528537	0.956
18	54363473	G	T	18	56696242	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.G1358T:p.G453V;WDR7:NM_052834:exon12:c.G1358T:p.G453V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.G1358T:p.G453V;ENSG00000091157:ENST00000357574:exon12:c.G1358T:p.G453V;	0.999939030971767	0.984
18	54363474	T	A	18	56696243	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon12:c.T1359A:p.G453G;WDR7:NM_052834:exon12:c.T1359A:p.G453G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.T1359A:p.G453G;ENSG00000091157:ENST00000357574:exon12:c.T1359A:p.G453G;	0.00165217019945151	0.114
18	54363474	T	C	18	56696243	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon12:c.T1359C:p.G453G;WDR7:NM_052834:exon12:c.T1359C:p.G453G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.T1359C:p.G453G;ENSG00000091157:ENST00000357574:exon12:c.T1359C:p.G453G;	0.00275131524203695	0.186
18	54363474	T	G	18	56696243	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon12:c.T1359G:p.G453G;WDR7:NM_052834:exon12:c.T1359G:p.G453G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.T1359G:p.G453G;ENSG00000091157:ENST00000357574:exon12:c.T1359G:p.G453G;	0.00233926855329891	0.11
18	54363691	A	C	18	56696460	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.A1576C:p.S526R;WDR7:NM_052834:exon12:c.A1576C:p.S526R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.A1576C:p.S526R;ENSG00000091157:ENST00000357574:exon12:c.A1576C:p.S526R;	0.863027198665932	0.694
18	54363691	A	G	18	56696460	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.A1576G:p.S526G;WDR7:NM_052834:exon12:c.A1576G:p.S526G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.A1576G:p.S526G;ENSG00000091157:ENST00000357574:exon12:c.A1576G:p.S526G;	0.442546472532014	0.49
18	54363691	A	T	18	56696460	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.A1576T:p.S526C;WDR7:NM_052834:exon12:c.A1576T:p.S526C;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.A1576T:p.S526C;ENSG00000091157:ENST00000357574:exon12:c.A1576T:p.S526C;	0.971330244936433	0.666
18	54363692	G	A	18	56696461	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.G1577A:p.S526N;WDR7:NM_052834:exon12:c.G1577A:p.S526N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.G1577A:p.S526N;ENSG00000091157:ENST00000357574:exon12:c.G1577A:p.S526N;	0.969307402085628	0.658
18	54363692	G	C	18	56696461	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.G1577C:p.S526T;WDR7:NM_052834:exon12:c.G1577C:p.S526T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.G1577C:p.S526T;ENSG00000091157:ENST00000357574:exon12:c.G1577C:p.S526T;	0.993607994997501	0.76
18	54363692	G	T	18	56696461	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.G1577T:p.S526I;WDR7:NM_052834:exon12:c.G1577T:p.S526I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.G1577T:p.S526I;ENSG00000091157:ENST00000357574:exon12:c.G1577T:p.S526I;	0.993569670453391	0.91
18	54363693	T	A	18	56696462	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.T1578A:p.S526R;WDR7:NM_052834:exon12:c.T1578A:p.S526R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.T1578A:p.S526R;ENSG00000091157:ENST00000357574:exon12:c.T1578A:p.S526R;	0.0493412952601402	0.304
18	54363693	T	C	18	56696462	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon12:c.T1578C:p.S526S;WDR7:NM_052834:exon12:c.T1578C:p.S526S;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.T1578C:p.S526S;ENSG00000091157:ENST00000357574:exon12:c.T1578C:p.S526S;	0.00838009143968871	0.192
18	54363693	T	G	18	56696462	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon12:c.T1578G:p.S526R;WDR7:NM_052834:exon12:c.T1578G:p.S526R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon12:c.T1578G:p.S526R;ENSG00000091157:ENST00000357574:exon12:c.T1578G:p.S526R;	0.0138310510511757	0.42
18	54363694	G	A	18	56696463	y	y	splicing	WDR7(NM_052834:exon12:c.1578+1G>A;NM_015285:exon12:c.1578+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1578+1G>A;ENST00000254442:exon12:c.1578+1G>A)	.	.	0.999990361384395	0.938
18	54363694	G	C	18	56696463	y	y	splicing	WDR7(NM_052834:exon12:c.1578+1G>C;NM_015285:exon12:c.1578+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1578+1G>C;ENST00000254442:exon12:c.1578+1G>C)	.	.	0.999990361384395	0.938
18	54363694	G	T	18	56696463	y	y	splicing	WDR7(NM_052834:exon12:c.1578+1G>T;NM_015285:exon12:c.1578+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1578+1G>T;ENST00000254442:exon12:c.1578+1G>T)	.	.	0.999990361384395	0.938
18	54363695	T	A	18	56696464	y	y	splicing	WDR7(NM_052834:exon12:c.1578+2T>A;NM_015285:exon12:c.1578+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1578+2T>A;ENST00000254442:exon12:c.1578+2T>A)	.	.	0.999988247793601	0.932
18	54363695	T	C	18	56696464	y	y	splicing	WDR7(NM_052834:exon12:c.1578+2T>C;NM_015285:exon12:c.1578+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1578+2T>C;ENST00000254442:exon12:c.1578+2T>C)	.	.	0.995320650369382	0.704
18	54363695	T	G	18	56696464	y	y	splicing	WDR7(NM_052834:exon12:c.1578+2T>G;NM_015285:exon12:c.1578+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon12:c.1578+2T>G;ENST00000254442:exon12:c.1578+2T>G)	.	.	0.999988247793601	0.932
18	54363696	A	C	18	56696465	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999903107988826	0.936
18	54363696	A	G	18	56696465	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.565368719252623	0.432
18	54363696	A	T	18	56696465	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999913738130844	0.954
18	54363697	A	C	18	56696466	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99914701009268	0.952
18	54363697	A	G	18	56696466	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998729507265314	0.938
18	54363697	A	T	18	56696466	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998468914225679	0.92
18	54363698	G	A	18	56696467	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999976008337081	0.996
18	54363698	G	C	18	56696467	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999983770473755	0.95
18	54363698	G	T	18	56696467	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999976008337081	0.98
18	54363699	T	A	18	56696468	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998142717892419	0.808
18	54363699	T	C	18	56696468	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.994950143478785	0.926
18	54363699	T	G	18	56696468	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998842534891181	0.936
18	54363700	T	A	18	56696469	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.28591857522327E-5	0.0
18	54363700	T	C	18	56696469	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.72031392874506E-4	0.002
18	54363700	T	G	18	56696469	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.72031392874506E-4	0.002
18	54363701	G	A	18	56696470	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0104878945316204	0.062
18	54363701	G	C	18	56696470	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0097581348326129	0.07
18	54363701	G	T	18	56696470	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0097581348326129	0.058
18	54385183	T	A	18	56717952	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0721731904131085	0.34
18	54385183	T	C	18	56717952	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00135360962587032	0.052
18	54385183	T	G	18	56717952	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.039590440580284	0.214
18	54385184	C	A	18	56717953	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.72730567832011E-4	0.08
18	54385184	C	G	18	56717953	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.9518339096171E-4	0.016
18	54385184	C	T	18	56717953	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.77029279591436E-5	0.004
18	54385185	T	A	18	56717954	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0811036669032588	0.244
18	54385185	T	C	18	56717954	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00297528028044175	0.096
18	54385185	T	G	18	56717954	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0450668828046797	0.224
18	54385186	T	A	18	56717955	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.00474439081887E-4	0.262
18	54385186	T	C	18	56717955	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.94114947294803E-5	0.094
18	54385186	T	G	18	56717955	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.13653080868633E-4	0.148
18	54385187	C	A	18	56717956	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.109988134068163	0.278
18	54385187	C	G	18	56717956	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0178698808721827	0.218
18	54385187	C	T	18	56717956	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00185422210447331	0.044
18	54385188	T	A	18	56717957	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0129326218394901	0.096
18	54385188	T	C	18	56717957	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.42593364116627E-4	0.004
18	54385188	T	G	18	56717957	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00196381313086294	0.044
18	54385189	T	A	18	56717958	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.469212250586621	0.412
18	54385189	T	C	18	56717958	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00545569477307843	0.2
18	54385189	T	G	18	56717958	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.340931039498146	0.402
18	54385190	T	A	18	56717959	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.182041464918436	0.452
18	54385190	T	C	18	56717959	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00962347852698339	0.118
18	54385190	T	G	18	56717959	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.691195416684798	0.478
18	54385191	T	A	18	56717960	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.23020301989018E-4	0.002
18	54385191	T	C	18	56717960	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.36570661516203E-4	0.002
18	54385191	T	G	18	56717960	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.24904668848351E-5	0.002
18	54385192	C	A	18	56717961	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.504207117931159	0.404
18	54385192	C	G	18	56717961	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999867352613041	0.882
18	54385192	C	T	18	56717961	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0116121191449464	0.076
18	54385193	A	C	18	56717962	y	y	splicing	WDR7(NM_052834:exon13:c.1579-2A>C;NM_015285:exon13:c.1579-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1579-2A>C;ENST00000254442:exon13:c.1579-2A>C)	.	.	0.999988247793601	0.928
18	54385193	A	G	18	56717962	y	y	splicing	WDR7(NM_052834:exon13:c.1579-2A>G;NM_015285:exon13:c.1579-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1579-2A>G;ENST00000254442:exon13:c.1579-2A>G)	.	.	0.999988247793601	0.928
18	54385193	A	T	18	56717962	y	y	splicing	WDR7(NM_052834:exon13:c.1579-2A>T;NM_015285:exon13:c.1579-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1579-2A>T;ENST00000254442:exon13:c.1579-2A>T)	.	.	0.999988247793601	0.928
18	54385194	G	A	18	56717963	y	y	splicing	WDR7(NM_052834:exon13:c.1579-1G>A;NM_015285:exon13:c.1579-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1579-1G>A;ENST00000254442:exon13:c.1579-1G>A)	.	.	0.999985532734767	0.936
18	54385194	G	C	18	56717963	y	y	splicing	WDR7(NM_052834:exon13:c.1579-1G>C;NM_015285:exon13:c.1579-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1579-1G>C;ENST00000254442:exon13:c.1579-1G>C)	.	.	0.999985532734767	0.936
18	54385194	G	T	18	56717963	y	y	splicing	WDR7(NM_052834:exon13:c.1579-1G>T;NM_015285:exon13:c.1579-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1579-1G>T;ENST00000254442:exon13:c.1579-1G>T)	.	.	0.999985532734767	0.936
18	54385195	G	A	18	56717964	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.G1579A:p.A527T;WDR7:NM_052834:exon13:c.G1579A:p.A527T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.G1579A:p.A527T;ENSG00000091157:ENST00000357574:exon13:c.G1579A:p.A527T;	0.576158448463679	0.514
18	54385195	G	C	18	56717964	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.G1579C:p.A527P;WDR7:NM_052834:exon13:c.G1579C:p.A527P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.G1579C:p.A527P;ENSG00000091157:ENST00000357574:exon13:c.G1579C:p.A527P;	0.397589494141279	0.416
18	54385195	G	T	18	56717964	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.G1579T:p.A527S;WDR7:NM_052834:exon13:c.G1579T:p.A527S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.G1579T:p.A527S;ENSG00000091157:ENST00000357574:exon13:c.G1579T:p.A527S;	0.766248841829728	0.682
18	54385196	C	A	18	56717965	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.C1580A:p.A527E;WDR7:NM_052834:exon13:c.C1580A:p.A527E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.C1580A:p.A527E;ENSG00000091157:ENST00000357574:exon13:c.C1580A:p.A527E;	0.984152720007237	0.724
18	54385196	C	G	18	56717965	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.C1580G:p.A527G;WDR7:NM_052834:exon13:c.C1580G:p.A527G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.C1580G:p.A527G;ENSG00000091157:ENST00000357574:exon13:c.C1580G:p.A527G;	0.972740262234739	0.678
18	54385196	C	T	18	56717965	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.C1580T:p.A527V;WDR7:NM_052834:exon13:c.C1580T:p.A527V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.C1580T:p.A527V;ENSG00000091157:ENST00000357574:exon13:c.C1580T:p.A527V;	0.970614691454475	0.806
18	54385388	C	A	18	56718157	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.C1772A:p.T591N;WDR7:NM_052834:exon13:c.C1772A:p.T591N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.C1772A:p.T591N;ENSG00000091157:ENST00000357574:exon13:c.C1772A:p.T591N;	0.956265665626274	0.804
18	54385388	C	G	18	56718157	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.C1772G:p.T591S;WDR7:NM_052834:exon13:c.C1772G:p.T591S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.C1772G:p.T591S;ENSG00000091157:ENST00000357574:exon13:c.C1772G:p.T591S;	0.921995968632742	0.622
18	54385388	C	T	18	56718157	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.C1772T:p.T591I;WDR7:NM_052834:exon13:c.C1772T:p.T591I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.C1772T:p.T591I;ENSG00000091157:ENST00000357574:exon13:c.C1772T:p.T591I;	0.997715741015309	0.706
18	54385389	T	A	18	56718158	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon13:c.T1773A:p.T591T;WDR7:NM_052834:exon13:c.T1773A:p.T591T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.T1773A:p.T591T;ENSG00000091157:ENST00000357574:exon13:c.T1773A:p.T591T;	3.61562742053585E-5	0.084
18	54385389	T	C	18	56718158	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon13:c.T1773C:p.T591T;WDR7:NM_052834:exon13:c.T1773C:p.T591T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.T1773C:p.T591T;ENSG00000091157:ENST00000357574:exon13:c.T1773C:p.T591T;	9.32824618073554E-5	0.024
18	54385389	T	G	18	56718158	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon13:c.T1773G:p.T591T;WDR7:NM_052834:exon13:c.T1773G:p.T591T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.T1773G:p.T591T;ENSG00000091157:ENST00000357574:exon13:c.T1773G:p.T591T;	5.94260299196373E-5	0.02
18	54385390	G	A	18	56718159	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.G1774A:p.G592S;WDR7:NM_052834:exon13:c.G1774A:p.G592S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.G1774A:p.G592S;ENSG00000091157:ENST00000357574:exon13:c.G1774A:p.G592S;	0.99994317446919	0.994
18	54385390	G	C	18	56718159	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.G1774C:p.G592R;WDR7:NM_052834:exon13:c.G1774C:p.G592R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.G1774C:p.G592R;ENSG00000091157:ENST00000357574:exon13:c.G1774C:p.G592R;	0.999994464671145	0.992
18	54385390	G	T	18	56718159	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon13:c.G1774T:p.G592C;WDR7:NM_052834:exon13:c.G1774T:p.G592C;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon13:c.G1774T:p.G592C;ENSG00000091157:ENST00000357574:exon13:c.G1774T:p.G592C;	0.999973530327253	0.986
18	54385391	G	A	18	56718160	y	y	splicing	WDR7(NM_052834:exon13:c.1774+1G>A;NM_015285:exon13:c.1774+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1774+1G>A;ENST00000254442:exon13:c.1774+1G>A)	.	.	0.999985532734767	0.938
18	54385391	G	C	18	56718160	y	y	splicing	WDR7(NM_052834:exon13:c.1774+1G>C;NM_015285:exon13:c.1774+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1774+1G>C;ENST00000254442:exon13:c.1774+1G>C)	.	.	0.999985532734767	0.938
18	54385391	G	T	18	56718160	y	y	splicing	WDR7(NM_052834:exon13:c.1774+1G>T;NM_015285:exon13:c.1774+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1774+1G>T;ENST00000254442:exon13:c.1774+1G>T)	.	.	0.999985532734767	0.938
18	54385392	T	A	18	56718161	y	y	splicing	WDR7(NM_052834:exon13:c.1774+2T>A;NM_015285:exon13:c.1774+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1774+2T>A;ENST00000254442:exon13:c.1774+2T>A)	.	.	0.999988247793601	0.93
18	54385392	T	C	18	56718161	y	y	splicing	WDR7(NM_052834:exon13:c.1774+2T>C;NM_015285:exon13:c.1774+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1774+2T>C;ENST00000254442:exon13:c.1774+2T>C)	.	.	0.99991522016916	0.89
18	54385392	T	G	18	56718161	y	y	splicing	WDR7(NM_052834:exon13:c.1774+2T>G;NM_015285:exon13:c.1774+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon13:c.1774+2T>G;ENST00000254442:exon13:c.1774+2T>G)	.	.	0.999988247793601	0.93
18	54385393	A	C	18	56718162	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999042234282731	0.97
18	54385393	A	G	18	56718162	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.937956782198107	0.59
18	54385393	A	T	18	56718162	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997774904294748	0.942
18	54385394	A	C	18	56718163	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.994436089105442	0.866
18	54385394	A	G	18	56718163	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996623763473138	0.9
18	54385394	A	T	18	56718163	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.990460950069995	0.836
18	54385395	G	A	18	56718164	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999443402499698	0.846
18	54385395	G	C	18	56718164	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999249912699135	0.934
18	54385395	G	T	18	56718164	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999341654659958	0.82
18	54385396	A	C	18	56718165	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.65848468108912E-5	0.014
18	54385396	A	G	18	56718165	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.62068092268105E-5	0.0
18	54385396	A	T	18	56718165	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.47369066517733E-5	0.0
18	54385397	A	C	18	56718166	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.45495379120052E-4	0.002
18	54385397	A	G	18	56718166	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.00663231447531E-4	0.002
18	54385397	A	T	18	56718166	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.91848111353002E-5	0.006
18	54385398	C	A	18	56718167	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.58028266785789E-4	0.01
18	54385398	C	G	18	56718167	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.58028266785789E-4	0.006
18	54385398	C	T	18	56718167	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.06601198712881E-4	0.008
18	54388812	A	C	18	56721581	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.A35C:p.K12T;	4.17825650598919E-5	0.0
18	54388812	A	G	18	56721581	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.A35G:p.K12R;	4.17825650598919E-5	0.0
18	54388812	A	T	18	56721581	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.A35T:p.K12I;	4.17825650598919E-5	0.0
18	54388813	A	C	18	56721582	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.A36C:p.K12N;	4.92542250322271E-5	0.006
18	54388813	A	G	18	56721582	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.A36G:p.K12K;	4.92542250322271E-5	0.006
18	54388813	A	T	18	56721582	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.A36T:p.K12N;	4.92542250322271E-5	0.006
18	54388814	G	A	18	56721583	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.G37A:p.G13S;	4.46691354208E-5	0.004
18	54388814	G	C	18	56721583	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.G37C:p.G13R;	4.46691354208E-5	0.002
18	54388814	G	T	18	56721583	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000590557:exon1:c.G37T:p.G13C;	4.46691354208E-5	0.0
18	54388815	G	A	18	56721584	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000590557:exon1:c.37+1G>A)	.	.	7.55948984093289E-5	0.014
18	54388815	G	C	18	56721584	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000590557:exon1:c.37+1G>C)	.	.	7.55948984093289E-5	0.014
18	54388815	G	T	18	56721584	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000590557:exon1:c.37+1G>T)	.	.	7.55948984093289E-5	0.014
18	54388816	T	A	18	56721585	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000590557:exon1:c.37+2T>A)	.	.	6.89925739660516E-5	0.004
18	54388816	T	C	18	56721585	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000590557:exon1:c.37+2T>C)	.	.	3.31929338280547E-5	0.002
18	54388816	T	G	18	56721585	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000590557:exon1:c.37+2T>G)	.	.	3.31929338280547E-5	0.002
18	54388817	G	A	18	56721586	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.95241758590049E-5	0.004
18	54388817	G	C	18	56721586	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.95241758590049E-5	0.004
18	54388817	G	T	18	56721586	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.95241758590049E-5	0.004
18	54388818	G	A	18	56721587	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.00675832680685E-4	0.004
18	54388818	G	C	18	56721587	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.00675832680685E-4	0.0
18	54388818	G	T	18	56721587	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.00675832680685E-4	0.0
18	54388819	G	A	18	56721588	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.10138825602451E-5	0.002
18	54388819	G	C	18	56721588	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.10138825602451E-5	0.002
18	54388819	G	T	18	56721588	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.10138825602451E-5	0.004
18	54388820	T	A	18	56721589	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	8.49702646665041E-5	0.004
18	54388820	T	C	18	56721589	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	4.08802802279601E-5	0.0
18	54388820	T	G	18	56721589	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	4.08802802279601E-5	0.0
18	54388821	C	A	18	56721590	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.82685551969961E-5	0.016
18	54388821	C	G	18	56721590	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.82685551969961E-5	0.018
18	54388821	C	T	18	56721590	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.82685551969961E-5	0.016
18	54388822	A	C	18	56721591	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	4.59797615271383E-5	0.0
18	54388822	A	G	18	56721591	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	4.59797615271383E-5	0.0
18	54388822	A	T	18	56721591	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	8.35697579118787E-5	0.0
18	54388898	C	A	18	56721667	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	9.02354544142521E-4	0.0
18	54388898	C	G	18	56721667	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	9.02354544142521E-4	0.0
18	54388898	C	T	18	56721667	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	9.02354544142521E-4	0.002
18	54388899	C	A	18	56721668	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	2.69367303291303E-4	0.004
18	54388899	C	G	18	56721668	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	2.69367303291303E-4	0.004
18	54388899	C	T	18	56721668	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	2.43656163090555E-4	0.006
18	54388900	A	C	18	56721669	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.0641636492174761	0.392
18	54388900	A	G	18	56721669	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.0641636492174761	0.394
18	54388900	A	T	18	56721669	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.0669243616930838	0.424
18	54388901	G	A	18	56721670	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	0.00200572610130427	0.022
18	54388901	G	C	18	56721670	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	9.02354544142521E-4	0.002
18	54388901	G	T	18	56721670	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	9.02354544142521E-4	0.002
18	54388902	T	A	18	56721671	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	1.56156611462187E-4	0.004
18	54388902	T	C	18	56721671	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	1.56156611462187E-4	0.004
18	54388902	T	G	18	56721671	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	1.56156611462187E-4	0.004
18	54388903	A	C	18	56721672	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.0641636492174761	0.392
18	54388903	A	G	18	56721672	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.0641636492174761	0.402
18	54388903	A	T	18	56721672	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.0669243616930838	0.432
18	54388904	A	C	18	56721673	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.49817874025862E-4	0.0
18	54388904	A	G	18	56721673	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.49817874025862E-4	0.0
18	54388904	A	T	18	56721673	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.35516193859006E-4	0.0
18	54388905	G	A	18	56721674	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.16080636402324E-4	0.0
18	54388905	G	C	18	56721674	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.19087666414529E-4	0.002
18	54388905	G	T	18	56721674	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.19087666414529E-4	0.0
18	54388906	T	A	18	56721675	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.34224261768216E-4	0.0
18	54388906	T	C	18	56721675	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.47952223173846E-4	0.004
18	54388906	T	G	18	56721675	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.47952223173846E-4	0.004
18	54388907	A	C	18	56721676	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.60346605627585E-4	0.008
18	54388907	A	G	18	56721676	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.60346605627585E-4	0.024
18	54388907	A	T	18	56721676	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	1.62079844064181E-4	0.006
18	54388908	T	A	18	56721677	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.05499324916919E-5	0.002
18	54388908	T	C	18	56721677	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.75002676380762E-5	0.008
18	54388908	T	G	18	56721677	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	7.75002676380762E-5	0.008
18	54388936	A	C	18	56721705	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.477564253108748	0.718
18	54388936	A	G	18	56721705	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.477564253108748	0.718
18	54388936	A	T	18	56721705	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	0.477564253108748	0.722
18	54388937	A	C	18	56721706	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	6.33665464603927E-4	0.24
18	54388937	A	G	18	56721706	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	6.33665464603927E-4	0.24
18	54388937	A	T	18	56721706	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	6.33665464603927E-4	0.234
18	54388938	G	A	18	56721707	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	4.47843073869149E-4	0.266
18	54388938	G	C	18	56721707	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	2.98060072271342E-4	0.262
18	54388938	G	T	18	56721707	n	y	intronic	WDR7	.	.	UTR5	ENSG00000091157	.	.	2.98060072271342E-4	0.262
18	54388939	G	A	18	56721708	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	2.47213928218687E-4	0.148
18	54388939	G	C	18	56721708	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	2.47213928218687E-4	0.126
18	54388939	G	T	18	56721708	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	2.47213928218687E-4	0.142
18	54388940	T	A	18	56721709	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	0.0221261221553801	0.256
18	54388940	T	C	18	56721709	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	0.0221261221553801	0.262
18	54388940	T	G	18	56721709	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157	.	.	0.0221261221553801	0.262
18	54388941	C	A	18	56721710	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.869967179038558	0.888
18	54388941	C	G	18	56721710	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.852496603578551	0.88
18	54388941	C	T	18	56721710	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.869967179038558	0.888
18	54388942	A	C	18	56721711	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.477564253108748	0.732
18	54388942	A	G	18	56721711	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.477564253108748	0.732
18	54388942	A	T	18	56721711	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.477564253108748	0.728
18	54388943	G	A	18	56721712	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.32843808885116E-4	0.074
18	54388943	G	C	18	56721712	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.32843808885116E-4	0.014
18	54388943	G	T	18	56721712	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.32843808885116E-4	0.09
18	54388944	A	C	18	56721713	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.00725296517704E-5	0.106
18	54388944	A	G	18	56721713	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.00725296517704E-5	0.104
18	54388944	A	T	18	56721713	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.83658740610778E-5	0.104
18	54388945	A	C	18	56721714	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.25034100363305E-5	0.018
18	54388945	A	G	18	56721714	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.25034100363305E-5	0.018
18	54388945	A	T	18	56721714	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.28395109544177E-5	0.03
18	54388946	T	A	18	56721715	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.296884270394244	0.63
18	54388946	T	C	18	56721715	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.174470020928857	0.578
18	54388946	T	G	18	56721715	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.174470020928857	0.602
18	54398602	T	A	18	56731371	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00273994321011718	0.08
18	54398602	T	C	18	56731371	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.30062446571379E-4	0.008
18	54398602	T	G	18	56731371	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999051260463731	0.97
18	54398603	T	A	18	56731372	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.43223423309424E-5	0.094
18	54398603	T	C	18	56731372	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.63344746210003E-5	0.016
18	54398603	T	G	18	56731372	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.66268527112088E-5	0.11
18	54398604	T	A	18	56731373	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00546597291519671	0.09
18	54398604	T	C	18	56731373	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.02488074730399E-4	0.006
18	54398604	T	G	18	56731373	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00181385894117375	0.09
18	54398605	T	A	18	56731374	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.51917614178722E-4	0.078
18	54398605	T	C	18	56731374	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.15366389008851E-4	0.006
18	54398605	T	G	18	56731374	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.30950795681007E-4	0.08
18	54398606	T	A	18	56731375	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00182786098610103	0.102
18	54398606	T	C	18	56731375	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.00802502346257E-4	0.002
18	54398606	T	G	18	56731375	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.13860077690216E-4	0.048
18	54398607	C	A	18	56731376	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0047041260182145	0.092
18	54398607	C	G	18	56731376	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.89100574987952E-4	0.052
18	54398607	C	T	18	56731376	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.57238378133693E-5	0.0
18	54398608	T	A	18	56731377	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0044655874137955	0.076
18	54398608	T	C	18	56731377	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.37621294320793E-4	0.006
18	54398608	T	G	18	56731377	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00509375862758441	0.124
18	54398609	C	A	18	56731378	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.968361971547217	0.762
18	54398609	C	G	18	56731378	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.27095228270778E-4	0.056
18	54398609	C	T	18	56731378	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.16803402529029E-5	0.0
18	54398610	G	A	18	56731379	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.1480904339653E-5	0.004
18	54398610	G	C	18	56731379	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.9159863924595E-5	0.036
18	54398610	G	T	18	56731379	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.06959335011646E-5	0.006
18	54398611	C	A	18	56731380	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.984548205389136	0.6
18	54398611	C	G	18	56731380	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999827116834677	0.852
18	54398611	C	T	18	56731380	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0144326716251015	0.25
18	54398612	A	C	18	56731381	y	y	splicing	WDR7(NM_052834:exon14:c.1775-2A>C;NM_015285:exon14:c.1775-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1775-2A>C;ENST00000254442:exon14:c.1775-2A>C;ENST00000590557:exon2:c.38-2A>C)	.	.	0.999966203349492	0.928
18	54398612	A	G	18	56731381	y	y	splicing	WDR7(NM_052834:exon14:c.1775-2A>G;NM_015285:exon14:c.1775-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1775-2A>G;ENST00000254442:exon14:c.1775-2A>G;ENST00000590557:exon2:c.38-2A>G)	.	.	0.999966203349492	0.928
18	54398612	A	T	18	56731381	y	y	splicing	WDR7(NM_052834:exon14:c.1775-2A>T;NM_015285:exon14:c.1775-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1775-2A>T;ENST00000254442:exon14:c.1775-2A>T;ENST00000590557:exon2:c.38-2A>T)	.	.	0.999966203349492	0.926
18	54398613	G	A	18	56731382	y	y	splicing	WDR7(NM_052834:exon14:c.1775-1G>A;NM_015285:exon14:c.1775-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1775-1G>A;ENST00000254442:exon14:c.1775-1G>A;ENST00000590557:exon2:c.38-1G>A)	.	.	0.999976137096505	0.942
18	54398613	G	C	18	56731382	y	y	splicing	WDR7(NM_052834:exon14:c.1775-1G>C;NM_015285:exon14:c.1775-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1775-1G>C;ENST00000254442:exon14:c.1775-1G>C;ENST00000590557:exon2:c.38-1G>C)	.	.	0.999938422912956	0.94
18	54398613	G	T	18	56731382	y	y	splicing	WDR7(NM_052834:exon14:c.1775-1G>T;NM_015285:exon14:c.1775-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1775-1G>T;ENST00000254442:exon14:c.1775-1G>T;ENST00000590557:exon2:c.38-1G>T)	.	.	0.999976137096505	0.94
18	54398614	G	A	18	56731383	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.G1775A:p.G592D;WDR7:NM_052834:exon14:c.G1775A:p.G592D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.G1775A:p.G592D;ENSG00000091157:ENST00000357574:exon14:c.G1775A:p.G592D;ENSG00000091157:ENST00000590557:exon2:c.G38A:p.G13D;	0.999335403652522	0.838
18	54398614	G	C	18	56731383	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.G1775C:p.G592A;WDR7:NM_052834:exon14:c.G1775C:p.G592A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.G1775C:p.G592A;ENSG00000091157:ENST00000357574:exon14:c.G1775C:p.G592A;ENSG00000091157:ENST00000590557:exon2:c.G38C:p.G13A;	0.999299298833917	0.978
18	54398614	G	T	18	56731383	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.G1775T:p.G592V;WDR7:NM_052834:exon14:c.G1775T:p.G592V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.G1775T:p.G592V;ENSG00000091157:ENST00000357574:exon14:c.G1775T:p.G592V;ENSG00000091157:ENST00000590557:exon2:c.G38T:p.G13V;	0.999639003486374	0.992
18	54398615	T	A	18	56731384	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon14:c.T1776A:p.G592G;WDR7:NM_052834:exon14:c.T1776A:p.G592G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.T1776A:p.G592G;ENSG00000091157:ENST00000357574:exon14:c.T1776A:p.G592G;ENSG00000091157:ENST00000590557:exon2:c.T39A:p.G13G;	3.20969139904477E-4	0.016
18	54398615	T	C	18	56731384	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon14:c.T1776C:p.G592G;WDR7:NM_052834:exon14:c.T1776C:p.G592G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.T1776C:p.G592G;ENSG00000091157:ENST00000357574:exon14:c.T1776C:p.G592G;ENSG00000091157:ENST00000590557:exon2:c.T39C:p.G13G;	7.49777587857672E-5	0.006
18	54398615	T	G	18	56731384	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon14:c.T1776G:p.G592G;WDR7:NM_052834:exon14:c.T1776G:p.G592G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.T1776G:p.G592G;ENSG00000091157:ENST00000357574:exon14:c.T1776G:p.G592G;ENSG00000091157:ENST00000590557:exon2:c.T39G:p.G13G;	1.26046887049901E-4	0.004
18	54398826	A	C	18	56731595	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.A1987C:p.K663Q;WDR7:NM_052834:exon14:c.A1987C:p.K663Q;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.A1987C:p.K663Q;ENSG00000091157:ENST00000357574:exon14:c.A1987C:p.K663Q;ENSG00000091157:ENST00000587403:exon2:c.A193C:p.K65Q;ENSG00000091157:ENST00000585824:exon2:c.A193C:p.K65Q;ENSG00000091157:ENST00000590557:exon2:c.A250C:p.K84Q;	0.472114847724647	0.588
18	54398826	A	G	18	56731595	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.A1987G:p.K663E;WDR7:NM_052834:exon14:c.A1987G:p.K663E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.A1987G:p.K663E;ENSG00000091157:ENST00000357574:exon14:c.A1987G:p.K663E;ENSG00000091157:ENST00000587403:exon2:c.A193G:p.K65E;ENSG00000091157:ENST00000585824:exon2:c.A193G:p.K65E;ENSG00000091157:ENST00000590557:exon2:c.A250G:p.K84E;	0.0100004723402187	0.176
18	54398826	A	T	18	56731595	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon14:c.A1987T:p.K663X;WDR7:NM_052834:exon14:c.A1987T:p.K663X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon14:c.A1987T:p.K663X;ENSG00000091157:ENST00000357574:exon14:c.A1987T:p.K663X;ENSG00000091157:ENST00000587403:exon2:c.A193T:p.K65X;ENSG00000091157:ENST00000585824:exon2:c.A193T:p.K65X;ENSG00000091157:ENST00000590557:exon2:c.A250T:p.K84X;	0.916680514937656	0.554
18	54398827	A	C	18	56731596	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.A1988C:p.K663T;WDR7:NM_052834:exon14:c.A1988C:p.K663T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.A1988C:p.K663T;ENSG00000091157:ENST00000357574:exon14:c.A1988C:p.K663T;ENSG00000091157:ENST00000587403:exon2:c.A194C:p.K65T;ENSG00000091157:ENST00000585824:exon2:c.A194C:p.K65T;ENSG00000091157:ENST00000590557:exon2:c.A251C:p.K84T;	0.774113988099458	0.598
18	54398827	A	G	18	56731596	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.A1988G:p.K663R;WDR7:NM_052834:exon14:c.A1988G:p.K663R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.A1988G:p.K663R;ENSG00000091157:ENST00000357574:exon14:c.A1988G:p.K663R;ENSG00000091157:ENST00000587403:exon2:c.A194G:p.K65R;ENSG00000091157:ENST00000585824:exon2:c.A194G:p.K65R;ENSG00000091157:ENST00000590557:exon2:c.A251G:p.K84R;	0.992400126120302	0.75
18	54398827	A	T	18	56731596	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.A1988T:p.K663M;WDR7:NM_052834:exon14:c.A1988T:p.K663M;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.A1988T:p.K663M;ENSG00000091157:ENST00000357574:exon14:c.A1988T:p.K663M;ENSG00000091157:ENST00000587403:exon2:c.A194T:p.K65M;ENSG00000091157:ENST00000585824:exon2:c.A194T:p.K65M;ENSG00000091157:ENST00000590557:exon2:c.A251T:p.K84M;	0.9854074138303	0.616
18	54398828	G	A	18	56731597	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon14:c.G1989A:p.K663K;WDR7:NM_052834:exon14:c.G1989A:p.K663K;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.G1989A:p.K663K;ENSG00000091157:ENST00000357574:exon14:c.G1989A:p.K663K;ENSG00000091157:ENST00000587403:exon2:c.G195A:p.K65K;ENSG00000091157:ENST00000585824:exon2:c.G195A:p.K65K;ENSG00000091157:ENST00000590557:exon2:c.G252A:p.K84K;	0.0435142236403774	0.29
18	54398828	G	C	18	56731597	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.G1989C:p.K663N;WDR7:NM_052834:exon14:c.G1989C:p.K663N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.G1989C:p.K663N;ENSG00000091157:ENST00000357574:exon14:c.G1989C:p.K663N;ENSG00000091157:ENST00000587403:exon2:c.G195C:p.K65N;ENSG00000091157:ENST00000585824:exon2:c.G195C:p.K65N;ENSG00000091157:ENST00000590557:exon2:c.G252C:p.K84N;	0.627851190548868	0.498
18	54398828	G	T	18	56731597	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon14:c.G1989T:p.K663N;WDR7:NM_052834:exon14:c.G1989T:p.K663N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon14:c.G1989T:p.K663N;ENSG00000091157:ENST00000357574:exon14:c.G1989T:p.K663N;ENSG00000091157:ENST00000587403:exon2:c.G195T:p.K65N;ENSG00000091157:ENST00000585824:exon2:c.G195T:p.K65N;ENSG00000091157:ENST00000590557:exon2:c.G252T:p.K84N;	0.444488815996408	0.352
18	54398829	G	A	18	56731598	y	y	splicing	WDR7(NM_052834:exon14:c.1989+1G>A;NM_015285:exon14:c.1989+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1989+1G>A;ENST00000254442:exon14:c.1989+1G>A;ENST00000587403:exon2:c.195+1G>A;ENST00000590557:exon2:c.252+1G>A;ENST00000585824:exon2:c.195+1G>A)	.	.	0.999986675681007	0.94
18	54398829	G	C	18	56731598	y	y	splicing	WDR7(NM_052834:exon14:c.1989+1G>C;NM_015285:exon14:c.1989+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1989+1G>C;ENST00000254442:exon14:c.1989+1G>C;ENST00000587403:exon2:c.195+1G>C;ENST00000590557:exon2:c.252+1G>C;ENST00000585824:exon2:c.195+1G>C)	.	.	0.999986675681007	0.94
18	54398829	G	T	18	56731598	y	y	splicing	WDR7(NM_052834:exon14:c.1989+1G>T;NM_015285:exon14:c.1989+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1989+1G>T;ENST00000254442:exon14:c.1989+1G>T;ENST00000587403:exon2:c.195+1G>T;ENST00000590557:exon2:c.252+1G>T;ENST00000585824:exon2:c.195+1G>T)	.	.	0.999986675681007	0.94
18	54398830	T	A	18	56731599	y	y	splicing	WDR7(NM_052834:exon14:c.1989+2T>A;NM_015285:exon14:c.1989+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1989+2T>A;ENST00000254442:exon14:c.1989+2T>A;ENST00000587403:exon2:c.195+2T>A;ENST00000590557:exon2:c.252+2T>A;ENST00000585824:exon2:c.195+2T>A)	.	.	0.99996947050243	0.894
18	54398830	T	C	18	56731599	y	y	splicing	WDR7(NM_052834:exon14:c.1989+2T>C;NM_015285:exon14:c.1989+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1989+2T>C;ENST00000254442:exon14:c.1989+2T>C;ENST00000587403:exon2:c.195+2T>C;ENST00000590557:exon2:c.252+2T>C;ENST00000585824:exon2:c.195+2T>C)	.	.	0.47086685576736	0.596
18	54398830	T	G	18	56731599	y	y	splicing	WDR7(NM_052834:exon14:c.1989+2T>G;NM_015285:exon14:c.1989+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon14:c.1989+2T>G;ENST00000254442:exon14:c.1989+2T>G;ENST00000587403:exon2:c.195+2T>G;ENST00000590557:exon2:c.252+2T>G;ENST00000585824:exon2:c.195+2T>G)	.	.	0.999957444927493	0.894
18	54398831	A	C	18	56731600	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.114362808677744	0.412
18	54398831	A	G	18	56731600	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.0324182923472E-4	0.004
18	54398831	A	T	18	56731600	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0326830866623465	0.408
18	54398832	A	C	18	56731601	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0170508387399556	0.3
18	54398832	A	G	18	56731601	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0272569057820065	0.414
18	54398832	A	T	18	56731601	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0238224748215359	0.236
18	54398833	G	A	18	56731602	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.499894309805341	0.482
18	54398833	G	C	18	56731602	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.397993431448343	0.448
18	54398833	G	T	18	56731602	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.512485174804759	0.466
18	54398834	T	A	18	56731603	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.32670836128001E-4	0.04
18	54398834	T	C	18	56731603	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.8181348765164E-4	0.018
18	54398834	T	G	18	56731603	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.67784281304008E-4	0.016
18	54398835	T	A	18	56731604	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.28655687538592E-4	0.05
18	54398835	T	C	18	56731604	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.28655687538592E-4	0.044
18	54398835	T	G	18	56731604	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.28655687538592E-4	0.058
18	54398836	T	A	18	56731605	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.50861351865397E-5	0.0
18	54398836	T	C	18	56731605	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.68140984436469E-5	0.0
18	54398836	T	G	18	56731605	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.68140984436469E-5	0.0
18	54423802	T	A	18	56756571	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.97091002106407	0.704
18	54423802	T	C	18	56756571	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0370346828013498	0.226
18	54423802	T	G	18	56756571	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999977105778388	0.97
18	54423803	A	C	18	56756572	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.12841055251495E-4	0.422
18	54423803	A	G	18	56756572	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.78912910167481E-4	0.202
18	54423803	A	T	18	56756572	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0016654394227624	0.492
18	54423804	T	A	18	56756573	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999574000976172	0.916
18	54423804	T	C	18	56756573	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.941826363994759	0.57
18	54423804	T	G	18	56756573	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999978815618235	0.97
18	54423805	T	A	18	56756574	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.700021880060191	0.488
18	54423805	T	C	18	56756574	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.80455214180272E-5	0.15
18	54423805	T	G	18	56756574	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.645544817166841	0.492
18	54423806	T	A	18	56756575	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.155885294000375	0.42
18	54423806	T	C	18	56756575	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.62060451627571E-4	0.044
18	54423806	T	G	18	56756575	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.721275383478693	0.556
18	54423807	A	C	18	56756576	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.58149264917048E-5	0.008
18	54423807	A	G	18	56756576	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.45784704653205E-4	0.006
18	54423807	A	T	18	56756576	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.75828594200403E-5	0.026
18	54423808	T	A	18	56756577	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.992417932956014	0.898
18	54423808	T	C	18	56756577	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0176809482984667	0.19
18	54423808	T	G	18	56756577	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999927510708537	0.968
18	54423809	T	A	18	56756578	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.727620312565733	0.722
18	54423809	T	C	18	56756578	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.209917985103964	0.312
18	54423809	T	G	18	56756578	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.986533354032196	0.742
18	54423810	A	C	18	56756579	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.56056989785661E-4	0.154
18	54423810	A	G	18	56756579	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00121497729900769	0.136
18	54423810	A	T	18	56756579	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.36118170454464E-4	0.108
18	54423811	C	A	18	56756580	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99239167018926	0.792
18	54423811	C	G	18	56756580	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999643156995499	0.888
18	54423811	C	T	18	56756580	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0502654278562998	0.076
18	54423812	A	C	18	56756581	y	y	splicing	WDR7(NM_052834:exon15:c.1990-2A>C;NM_015285:exon15:c.1990-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.1990-2A>C;ENST00000254442:exon15:c.1990-2A>C;ENST00000587403:exon3:c.196-2A>C;ENST00000590557:exon3:c.253-2A>C;ENST00000585824:exon3:c.196-2A>C)	.	.	0.999986741007567	0.946
18	54423812	A	G	18	56756581	y	y	splicing	WDR7(NM_052834:exon15:c.1990-2A>G;NM_015285:exon15:c.1990-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.1990-2A>G;ENST00000254442:exon15:c.1990-2A>G;ENST00000587403:exon3:c.196-2A>G;ENST00000590557:exon3:c.253-2A>G;ENST00000585824:exon3:c.196-2A>G)	.	.	0.999986741007567	0.946
18	54423812	A	T	18	56756581	y	y	splicing	WDR7(NM_052834:exon15:c.1990-2A>T;NM_015285:exon15:c.1990-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.1990-2A>T;ENST00000254442:exon15:c.1990-2A>T;ENST00000587403:exon3:c.196-2A>T;ENST00000590557:exon3:c.253-2A>T;ENST00000585824:exon3:c.196-2A>T)	.	.	0.999986741007567	0.946
18	54423813	G	A	18	56756582	y	y	splicing	WDR7(NM_052834:exon15:c.1990-1G>A;NM_015285:exon15:c.1990-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.1990-1G>A;ENST00000254442:exon15:c.1990-1G>A;ENST00000587403:exon3:c.196-1G>A;ENST00000590557:exon3:c.253-1G>A;ENST00000585824:exon3:c.196-1G>A)	.	.	0.999989125585301	0.944
18	54423813	G	C	18	56756582	y	y	splicing	WDR7(NM_052834:exon15:c.1990-1G>C;NM_015285:exon15:c.1990-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.1990-1G>C;ENST00000254442:exon15:c.1990-1G>C;ENST00000587403:exon3:c.196-1G>C;ENST00000590557:exon3:c.253-1G>C;ENST00000585824:exon3:c.196-1G>C)	.	.	0.999989125585301	0.944
18	54423813	G	T	18	56756582	y	y	splicing	WDR7(NM_052834:exon15:c.1990-1G>T;NM_015285:exon15:c.1990-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.1990-1G>T;ENST00000254442:exon15:c.1990-1G>T;ENST00000587403:exon3:c.196-1G>T;ENST00000590557:exon3:c.253-1G>T;ENST00000585824:exon3:c.196-1G>T)	.	.	0.999989125585301	0.944
18	54423814	G	A	18	56756583	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.G1990A:p.G664R;WDR7:NM_052834:exon15:c.G1990A:p.G664R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.G1990A:p.G664R;ENSG00000091157:ENST00000357574:exon15:c.G1990A:p.G664R;ENSG00000091157:ENST00000587403:exon3:c.G196A:p.G66R;ENSG00000091157:ENST00000585824:exon3:c.G196A:p.G66R;ENSG00000091157:ENST00000590557:exon3:c.G253A:p.G85R;	0.999548236743576	0.912
18	54423814	G	C	18	56756583	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.G1990C:p.G664R;WDR7:NM_052834:exon15:c.G1990C:p.G664R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.G1990C:p.G664R;ENSG00000091157:ENST00000357574:exon15:c.G1990C:p.G664R;ENSG00000091157:ENST00000587403:exon3:c.G196C:p.G66R;ENSG00000091157:ENST00000585824:exon3:c.G196C:p.G66R;ENSG00000091157:ENST00000590557:exon3:c.G253C:p.G85R;	0.999760661555547	0.972
18	54423814	G	T	18	56756583	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon15:c.G1990T:p.G664X;WDR7:NM_052834:exon15:c.G1990T:p.G664X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon15:c.G1990T:p.G664X;ENSG00000091157:ENST00000357574:exon15:c.G1990T:p.G664X;ENSG00000091157:ENST00000587403:exon3:c.G196T:p.G66X;ENSG00000091157:ENST00000585824:exon3:c.G196T:p.G66X;ENSG00000091157:ENST00000590557:exon3:c.G253T:p.G85X;	0.999921333601807	0.994
18	54423815	G	A	18	56756584	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.G1991A:p.G664E;WDR7:NM_052834:exon15:c.G1991A:p.G664E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.G1991A:p.G664E;ENSG00000091157:ENST00000357574:exon15:c.G1991A:p.G664E;ENSG00000091157:ENST00000587403:exon3:c.G197A:p.G66E;ENSG00000091157:ENST00000585824:exon3:c.G197A:p.G66E;ENSG00000091157:ENST00000590557:exon3:c.G254A:p.G85E;	0.849219787171641	0.572
18	54423815	G	C	18	56756584	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.G1991C:p.G664A;WDR7:NM_052834:exon15:c.G1991C:p.G664A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.G1991C:p.G664A;ENSG00000091157:ENST00000357574:exon15:c.G1991C:p.G664A;ENSG00000091157:ENST00000587403:exon3:c.G197C:p.G66A;ENSG00000091157:ENST00000585824:exon3:c.G197C:p.G66A;ENSG00000091157:ENST00000590557:exon3:c.G254C:p.G85A;	0.953718213792748	0.638
18	54423815	G	T	18	56756584	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.G1991T:p.G664V;WDR7:NM_052834:exon15:c.G1991T:p.G664V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.G1991T:p.G664V;ENSG00000091157:ENST00000357574:exon15:c.G1991T:p.G664V;ENSG00000091157:ENST00000587403:exon3:c.G197T:p.G66V;ENSG00000091157:ENST00000585824:exon3:c.G197T:p.G66V;ENSG00000091157:ENST00000590557:exon3:c.G254T:p.G85V;	0.983735374738648	0.762
18	54424581	C	A	18	56757350	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon15:c.C2757A:p.T919T;WDR7:NM_052834:exon15:c.C2757A:p.T919T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.C2757A:p.T919T;ENSG00000091157:ENST00000357574:exon15:c.C2757A:p.T919T;	0.0212556365182331	0.242
18	54424581	C	G	18	56757350	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon15:c.C2757G:p.T919T;WDR7:NM_052834:exon15:c.C2757G:p.T919T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.C2757G:p.T919T;ENSG00000091157:ENST00000357574:exon15:c.C2757G:p.T919T;	0.243899143339689	0.322
18	54424581	C	T	18	56757350	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon15:c.C2757T:p.T919T;WDR7:NM_052834:exon15:c.C2757T:p.T919T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.C2757T:p.T919T;ENSG00000091157:ENST00000357574:exon15:c.C2757T:p.T919T;	0.998384832996629	0.838
18	54424582	A	C	18	56757351	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon15:c.A2758C:p.R920R;WDR7:NM_052834:exon15:c.A2758C:p.R920R;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.A2758C:p.R920R;ENSG00000091157:ENST00000357574:exon15:c.A2758C:p.R920R;	0.99648520014155	0.932
18	54424582	A	G	18	56757351	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.A2758G:p.R920G;WDR7:NM_052834:exon15:c.A2758G:p.R920G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.A2758G:p.R920G;ENSG00000091157:ENST00000357574:exon15:c.A2758G:p.R920G;	0.999924227225105	0.998
18	54424582	A	T	18	56757351	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.A2758T:p.R920W;WDR7:NM_052834:exon15:c.A2758T:p.R920W;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.A2758T:p.R920W;ENSG00000091157:ENST00000357574:exon15:c.A2758T:p.R920W;	0.999931933243722	0.99
18	54424583	G	A	18	56757352	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.G2759A:p.R920K;WDR7:NM_052834:exon15:c.G2759A:p.R920K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.G2759A:p.R920K;ENSG00000091157:ENST00000357574:exon15:c.G2759A:p.R920K;	0.999995421068603	1.0
18	54424583	G	C	18	56757352	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.G2759C:p.R920T;WDR7:NM_052834:exon15:c.G2759C:p.R920T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.G2759C:p.R920T;ENSG00000091157:ENST00000357574:exon15:c.G2759C:p.R920T;	0.999997610789446	1.0
18	54424583	G	T	18	56757352	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon15:c.G2759T:p.R920M;WDR7:NM_052834:exon15:c.G2759T:p.R920M;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon15:c.G2759T:p.R920M;ENSG00000091157:ENST00000357574:exon15:c.G2759T:p.R920M;	0.999993018555097	0.998
18	54424584	G	A	18	56757353	y	y	splicing	WDR7(NM_052834:exon15:c.2759+1G>A;NM_015285:exon15:c.2759+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.2759+1G>A;ENST00000254442:exon15:c.2759+1G>A)	.	.	0.999990361384395	0.938
18	54424584	G	C	18	56757353	y	y	splicing	WDR7(NM_052834:exon15:c.2759+1G>C;NM_015285:exon15:c.2759+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.2759+1G>C;ENST00000254442:exon15:c.2759+1G>C)	.	.	0.999990361384395	0.938
18	54424584	G	T	18	56757353	y	y	splicing	WDR7(NM_052834:exon15:c.2759+1G>T;NM_015285:exon15:c.2759+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.2759+1G>T;ENST00000254442:exon15:c.2759+1G>T)	.	.	0.999990361384395	0.938
18	54424585	T	A	18	56757354	y	y	splicing	WDR7(NM_052834:exon15:c.2759+2T>A;NM_015285:exon15:c.2759+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.2759+2T>A;ENST00000254442:exon15:c.2759+2T>A)	.	.	0.999988247793601	0.932
18	54424585	T	C	18	56757354	y	y	splicing	WDR7(NM_052834:exon15:c.2759+2T>C;NM_015285:exon15:c.2759+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.2759+2T>C;ENST00000254442:exon15:c.2759+2T>C)	.	.	0.999929727175276	0.872
18	54424585	T	G	18	56757354	y	y	splicing	WDR7(NM_052834:exon15:c.2759+2T>G;NM_015285:exon15:c.2759+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon15:c.2759+2T>G;ENST00000254442:exon15:c.2759+2T>G)	.	.	0.999988247793601	0.932
18	54424586	G	A	18	56757355	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.29010850019877E-4	0.068
18	54424586	G	C	18	56757355	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.292615230306514	0.298
18	54424586	G	T	18	56757355	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.191209319372858	0.282
18	54424587	T	A	18	56757356	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.72716614210823E-4	0.064
18	54424587	T	C	18	56757356	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0145956046264697	0.22
18	54424587	T	G	18	56757356	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.83604516180651E-4	0.024
18	54424588	G	A	18	56757357	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999971612896437	0.986
18	54424588	G	C	18	56757357	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999957854850227	0.95
18	54424588	G	T	18	56757357	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999986419357034	0.982
18	54424589	A	C	18	56757358	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00212339260569498	0.138
18	54424589	A	G	18	56757358	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.10272881726303E-5	0.014
18	54424589	A	T	18	56757358	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.56871398551237E-4	0.018
18	54424590	C	A	18	56757359	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.29248177322062E-4	0.0
18	54424590	C	G	18	56757359	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00135021481295108	0.006
18	54424590	C	T	18	56757359	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.71872788252925E-4	0.088
18	54424591	C	A	18	56757360	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00204893244188705	0.07
18	54424591	C	G	18	56757360	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00143720429031954	0.004
18	54424591	C	T	18	56757360	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.76437132432071E-4	0.0
18	54426084	T	A	18	56758853	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00297658381396205	0.238
18	54426084	T	C	18	56758853	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00266650357646616	0.056
18	54426084	T	G	18	56758853	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00284977359712823	0.188
18	54426085	T	A	18	56758854	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.121608115262886	0.504
18	54426085	T	C	18	56758854	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0244942561447484	0.164
18	54426085	T	G	18	56758854	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0403865688324657	0.348
18	54426086	C	A	18	56758855	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.58189449303567E-5	0.042
18	54426086	C	G	18	56758855	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.36544063203594E-5	0.038
18	54426086	C	T	18	56758855	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.02450261630245E-5	0.016
18	54426087	T	A	18	56758856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00427525528652167	0.158
18	54426087	T	C	18	56758856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00135360962587032	0.054
18	54426087	T	G	18	56758856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00573527609482708	0.174
18	54426088	T	A	18	56758857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.73340109943973E-4	0.062
18	54426088	T	C	18	56758857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.74176308004663E-5	0.0
18	54426088	T	G	18	56758857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.55291887890418E-4	0.052
18	54426089	T	A	18	56758858	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0127883888412084	0.18
18	54426089	T	C	18	56758858	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.67576364426891E-4	0.014
18	54426089	T	G	18	56758858	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00445803099152685	0.064
18	54426090	T	A	18	56758859	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.831687340286371	0.586
18	54426090	T	C	18	56758859	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.477211681307176	0.64
18	54426090	T	G	18	56758859	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.942534498576282	0.598
18	54426091	T	A	18	56758860	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.985308959283939	0.73
18	54426091	T	C	18	56758860	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.741552080990315	0.438
18	54426091	T	G	18	56758860	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.969415179557828	0.696
18	54426092	T	A	18	56758861	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.75455956649063E-5	0.0
18	54426092	T	C	18	56758861	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.87437219093654E-5	0.002
18	54426092	T	G	18	56758861	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.15573031830964E-4	0.006
18	54426093	A	C	18	56758862	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.69325734903068E-4	0.036
18	54426093	A	G	18	56758862	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.216151720394215	0.358
18	54426093	A	T	18	56758862	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.22822849827481E-4	0.022
18	54426094	A	C	18	56758863	y	y	splicing	WDR7(NM_052834:exon16:c.2760-2A>C;NM_015285:exon16:c.2760-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2760-2A>C;ENST00000254442:exon16:c.2760-2A>C)	.	.	0.999986607513753	0.918
18	54426094	A	G	18	56758863	y	y	splicing	WDR7(NM_052834:exon16:c.2760-2A>G;NM_015285:exon16:c.2760-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2760-2A>G;ENST00000254442:exon16:c.2760-2A>G)	.	.	0.999986607513753	0.918
18	54426094	A	T	18	56758863	y	y	splicing	WDR7(NM_052834:exon16:c.2760-2A>T;NM_015285:exon16:c.2760-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2760-2A>T;ENST00000254442:exon16:c.2760-2A>T)	.	.	0.999986607513753	0.918
18	54426095	G	A	18	56758864	y	y	splicing	WDR7(NM_052834:exon16:c.2760-1G>A;NM_015285:exon16:c.2760-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2760-1G>A;ENST00000254442:exon16:c.2760-1G>A)	.	.	0.999990361384395	0.938
18	54426095	G	C	18	56758864	y	y	splicing	WDR7(NM_052834:exon16:c.2760-1G>C;NM_015285:exon16:c.2760-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2760-1G>C;ENST00000254442:exon16:c.2760-1G>C)	.	.	0.999990361384395	0.938
18	54426095	G	T	18	56758864	y	y	splicing	WDR7(NM_052834:exon16:c.2760-1G>T;NM_015285:exon16:c.2760-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2760-1G>T;ENST00000254442:exon16:c.2760-1G>T)	.	.	0.999990361384395	0.938
18	54426096	G	A	18	56758865	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon16:c.G2760A:p.R920R;WDR7:NM_052834:exon16:c.G2760A:p.R920R;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.G2760A:p.R920R;ENSG00000091157:ENST00000357574:exon16:c.G2760A:p.R920R;	0.792869994725469	0.63
18	54426096	G	C	18	56758865	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.G2760C:p.R920S;WDR7:NM_052834:exon16:c.G2760C:p.R920S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.G2760C:p.R920S;ENSG00000091157:ENST00000357574:exon16:c.G2760C:p.R920S;	0.999677278156789	0.956
18	54426096	G	T	18	56758865	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.G2760T:p.R920S;WDR7:NM_052834:exon16:c.G2760T:p.R920S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.G2760T:p.R920S;ENSG00000091157:ENST00000357574:exon16:c.G2760T:p.R920S;	0.999831131113824	0.976
18	54426097	C	A	18	56758866	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.C2761A:p.P921T;WDR7:NM_052834:exon16:c.C2761A:p.P921T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.C2761A:p.P921T;ENSG00000091157:ENST00000357574:exon16:c.C2761A:p.P921T;	0.793118250434253	0.4
18	54426097	C	G	18	56758866	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.C2761G:p.P921A;WDR7:NM_052834:exon16:c.C2761G:p.P921A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.C2761G:p.P921A;ENSG00000091157:ENST00000357574:exon16:c.C2761G:p.P921A;	0.984173644063498	0.67
18	54426097	C	T	18	56758866	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.C2761T:p.P921S;WDR7:NM_052834:exon16:c.C2761T:p.P921S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.C2761T:p.P921S;ENSG00000091157:ENST00000357574:exon16:c.C2761T:p.P921S;	0.91637379298319	0.772
18	54426182	A	C	18	56758951	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.A2846C:p.Q949P;WDR7:NM_052834:exon16:c.A2846C:p.Q949P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.A2846C:p.Q949P;ENSG00000091157:ENST00000357574:exon16:c.A2846C:p.Q949P;	0.899548687856989	0.818
18	54426182	A	G	18	56758951	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.A2846G:p.Q949R;WDR7:NM_052834:exon16:c.A2846G:p.Q949R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.A2846G:p.Q949R;ENSG00000091157:ENST00000357574:exon16:c.A2846G:p.Q949R;	0.563953097525837	0.6
18	54426182	A	T	18	56758951	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.A2846T:p.Q949L;WDR7:NM_052834:exon16:c.A2846T:p.Q949L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.A2846T:p.Q949L;ENSG00000091157:ENST00000357574:exon16:c.A2846T:p.Q949L;	0.999035548246013	0.832
18	54426183	A	C	18	56758952	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.A2847C:p.Q949H;WDR7:NM_052834:exon16:c.A2847C:p.Q949H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.A2847C:p.Q949H;ENSG00000091157:ENST00000357574:exon16:c.A2847C:p.Q949H;	0.846051946098873	0.726
18	54426183	A	G	18	56758952	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon16:c.A2847G:p.Q949Q;WDR7:NM_052834:exon16:c.A2847G:p.Q949Q;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.A2847G:p.Q949Q;ENSG00000091157:ENST00000357574:exon16:c.A2847G:p.Q949Q;	0.992218169612676	0.848
18	54426183	A	T	18	56758952	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.A2847T:p.Q949H;WDR7:NM_052834:exon16:c.A2847T:p.Q949H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.A2847T:p.Q949H;ENSG00000091157:ENST00000357574:exon16:c.A2847T:p.Q949H;	0.998015332305292	0.92
18	54426184	G	A	18	56758953	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.G2848A:p.V950I;WDR7:NM_052834:exon16:c.G2848A:p.G950S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.G2848A:p.V950I;ENSG00000091157:ENST00000357574:exon16:c.G2848A:p.G950S;	0.999984098478426	0.996
18	54426184	G	C	18	56758953	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.G2848C:p.V950L;WDR7:NM_052834:exon16:c.G2848C:p.G950R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.G2848C:p.V950L;ENSG00000091157:ENST00000357574:exon16:c.G2848C:p.G950R;	0.999991288582754	0.97
18	54426184	G	T	18	56758953	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon16:c.G2848T:p.V950F;WDR7:NM_052834:exon16:c.G2848T:p.G950C;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon16:c.G2848T:p.V950F;ENSG00000091157:ENST00000357574:exon16:c.G2848T:p.G950C;	0.999993018555097	1.0
18	54426185	G	A	18	56758954	y	y	splicing	WDR7(NM_052834:exon16:c.2848+1G>A;NM_015285:exon16:c.2848+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2848+1G>A;ENST00000254442:exon16:c.2848+1G>A)	.	.	0.999990361384395	0.938
18	54426185	G	C	18	56758954	y	y	splicing	WDR7(NM_052834:exon16:c.2848+1G>C;NM_015285:exon16:c.2848+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2848+1G>C;ENST00000254442:exon16:c.2848+1G>C)	.	.	0.999990361384395	0.938
18	54426185	G	T	18	56758954	y	y	splicing	WDR7(NM_052834:exon16:c.2848+1G>T;NM_015285:exon16:c.2848+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2848+1G>T;ENST00000254442:exon16:c.2848+1G>T)	.	.	0.999990361384395	0.938
18	54426186	T	A	18	56758955	y	y	splicing	WDR7(NM_052834:exon16:c.2848+2T>A;NM_015285:exon16:c.2848+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2848+2T>A;ENST00000254442:exon16:c.2848+2T>A)	.	.	0.999988247793601	0.932
18	54426186	T	C	18	56758955	y	y	splicing	WDR7(NM_052834:exon16:c.2848+2T>C;NM_015285:exon16:c.2848+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2848+2T>C;ENST00000254442:exon16:c.2848+2T>C)	.	.	0.994731650058242	0.726
18	54426186	T	G	18	56758955	y	y	splicing	WDR7(NM_052834:exon16:c.2848+2T>G;NM_015285:exon16:c.2848+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon16:c.2848+2T>G;ENST00000254442:exon16:c.2848+2T>G)	.	.	0.999988247793601	0.932
18	54426187	A	C	18	56758956	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999892836199025	0.986
18	54426187	A	G	18	56758956	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999172259808181	0.924
18	54426187	A	T	18	56758956	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999783574689204	0.944
18	54426188	A	C	18	56758957	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.990085030763533	0.8
18	54426188	A	G	18	56758957	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.995306871891355	0.86
18	54426188	A	T	18	56758957	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998280822008472	0.888
18	54426189	A	C	18	56758958	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0336208652858096	0.226
18	54426189	A	G	18	56758958	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00110220808865857	0.038
18	54426189	A	T	18	56758958	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0539573732241637	0.266
18	54426190	A	C	18	56758959	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0525358653993626	0.142
18	54426190	A	G	18	56758959	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00476664789213543	0.04
18	54426190	A	T	18	56758959	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0033463699717167	0.032
18	54426191	T	A	18	56758960	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.14114084818928E-4	0.0
18	54426191	T	C	18	56758960	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.14114084818928E-4	0.0
18	54426191	T	G	18	56758960	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.12823462643339E-4	0.0
18	54426192	T	A	18	56758961	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.2777345682912E-4	0.008
18	54426192	T	C	18	56758961	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.7718548018158E-5	0.016
18	54426192	T	G	18	56758961	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.2777345682912E-4	0.012
18	54444001	T	A	18	56776770	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.177508797239847	0.366
18	54444001	T	C	18	56776770	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0160855604840925	0.122
18	54444001	T	G	18	56776770	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.124909407578177	0.308
18	54444002	T	A	18	56776771	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.755794162840019	0.664
18	54444002	T	C	18	56776771	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0572217928949042	0.278
18	54444002	T	G	18	56776771	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.587729893797547	0.644
18	54444003	C	A	18	56776772	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.261883657292253	0.324
18	54444003	C	G	18	56776772	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.223656122287944	0.284
18	54444003	C	T	18	56776772	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.245177738375499	0.574
18	54444004	C	A	18	56776773	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0794085741519801	0.27
18	54444004	C	G	18	56776773	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.034443015282848	0.266
18	54444004	C	T	18	56776773	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0652794620625434	0.446
18	54444005	T	A	18	56776774	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0152471988003676	0.142
18	54444005	T	C	18	56776774	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.94621089825249E-4	0.01
18	54444005	T	G	18	56776774	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0110366524677803	0.176
18	54444006	C	A	18	56776775	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.439474123118797	0.396
18	54444006	C	G	18	56776775	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.270719880341623	0.378
18	54444006	C	T	18	56776775	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00752925010444764	0.104
18	54444007	T	A	18	56776776	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999916631875926	0.95
18	54444007	T	C	18	56776776	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0474628066787211	0.254
18	54444007	T	G	18	56776776	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.397212498827359	0.408
18	54444008	G	A	18	56776777	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00580439692136781	0.062
18	54444008	G	C	18	56776777	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00160440238527346	0.062
18	54444008	G	T	18	56776777	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00305291844235415	0.092
18	54444009	C	A	18	56776778	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0033342156190102	0.118
18	54444009	C	G	18	56776778	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0204057011896712	0.148
18	54444009	C	T	18	56776778	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0152172978426816	0.13
18	54444010	A	C	18	56776779	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00205489378668442	0.072
18	54444010	A	G	18	56776779	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.434912806952655	0.246
18	54444010	A	T	18	56776779	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00170240094038347	0.038
18	54444011	A	C	18	56776780	y	y	splicing	WDR7(NM_015285:exon17:c.2849-2A>C)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2849-2A>C)	.	.	0.999986756833409	0.902
18	54444011	A	G	18	56776780	y	y	splicing	WDR7(NM_015285:exon17:c.2849-2A>G)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2849-2A>G)	.	.	0.999986756833409	0.902
18	54444011	A	T	18	56776780	y	y	splicing	WDR7(NM_015285:exon17:c.2849-2A>T)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2849-2A>T)	.	.	0.999986756833409	0.902
18	54444012	G	A	18	56776781	y	y	splicing	WDR7(NM_015285:exon17:c.2849-1G>A)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2849-1G>A)	.	.	0.999982627682474	0.886
18	54444012	G	C	18	56776781	y	y	splicing	WDR7(NM_015285:exon17:c.2849-1G>C)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2849-1G>C)	.	.	0.999982627682474	0.886
18	54444012	G	T	18	56776781	y	y	splicing	WDR7(NM_015285:exon17:c.2849-1G>T)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2849-1G>T)	.	.	0.999982627682474	0.886
18	54444013	T	A	18	56776782	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.T2849A:p.V950D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.T2849A:p.V950D;	2.82231516668472E-4	0.032
18	54444013	T	C	18	56776782	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.T2849C:p.V950A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.T2849C:p.V950A;	2.95160690189393E-4	0.042
18	54444013	T	G	18	56776782	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.T2849G:p.V950G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.T2849G:p.V950G;	0.00404293703622729	0.134
18	54444014	T	A	18	56776783	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon17:c.T2850A:p.V950V;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.T2850A:p.V950V;	0.00172903042517746	0.076
18	54444014	T	C	18	56776783	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon17:c.T2850C:p.V950V;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.T2850C:p.V950V;	4.35988097148352E-4	0.046
18	54444014	T	G	18	56776783	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon17:c.T2850G:p.V950V;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.T2850G:p.V950V;	3.68331848178971E-4	0.05
18	54444109	A	C	18	56776878	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.A2945C:p.E982A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.A2945C:p.E982A;	0.0257522913001633	0.186
18	54444109	A	G	18	56776878	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.A2945G:p.E982G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.A2945G:p.E982G;	0.295192949018112	0.352
18	54444109	A	T	18	56776878	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.A2945T:p.E982V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.A2945T:p.E982V;	0.997514955326291	0.708
18	54444110	A	C	18	56776879	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.A2946C:p.E982D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.A2946C:p.E982D;	0.999819937003182	0.994
18	54444110	A	G	18	56776879	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon17:c.A2946G:p.E982E;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.A2946G:p.E982E;	0.998728550269263	0.952
18	54444110	A	T	18	56776879	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.A2946T:p.E982D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.A2946T:p.E982D;	0.999933378596064	0.99
18	54444111	G	A	18	56776880	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.G2947A:p.G983S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.G2947A:p.G983S;	0.999993265148107	1.0
18	54444111	G	C	18	56776880	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.G2947C:p.G983R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.G2947C:p.G983R;	0.99999404519257	0.994
18	54444111	G	T	18	56776880	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon17:c.G2947T:p.G983C;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon17:c.G2947T:p.G983C;	0.999965651379775	0.94
18	54444112	G	A	18	56776881	y	y	splicing	WDR7(NM_015285:exon17:c.2947+1G>A)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2947+1G>A)	.	.	0.999990361384395	0.926
18	54444112	G	C	18	56776881	y	y	splicing	WDR7(NM_015285:exon17:c.2947+1G>C)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2947+1G>C)	.	.	0.999990361384395	0.926
18	54444112	G	T	18	56776881	y	y	splicing	WDR7(NM_015285:exon17:c.2947+1G>T)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2947+1G>T)	.	.	0.999990361384395	0.926
18	54444113	T	A	18	56776882	y	y	splicing	WDR7(NM_015285:exon17:c.2947+2T>A)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2947+2T>A)	.	.	0.999992446697775	0.934
18	54444113	T	C	18	56776882	y	y	splicing	WDR7(NM_015285:exon17:c.2947+2T>C)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2947+2T>C)	.	.	0.993224249116124	0.656
18	54444113	T	G	18	56776882	y	y	splicing	WDR7(NM_015285:exon17:c.2947+2T>G)	.	.	splicing	ENSG00000091157(ENST00000254442:exon17:c.2947+2T>G)	.	.	0.999992446697775	0.934
18	54444114	A	C	18	56776883	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999877172147238	0.97
18	54444114	A	G	18	56776883	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999666836821899	0.926
18	54444114	A	T	18	56776883	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999839746084502	0.952
18	54444115	T	A	18	56776884	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0619428538115328	0.176
18	54444115	T	C	18	56776884	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.335715023620401	0.54
18	54444115	T	G	18	56776884	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0473195835240564	0.326
18	54444116	C	A	18	56776885	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00968108702019915	0.122
18	54444116	C	G	18	56776885	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0104576216657187	0.078
18	54444116	C	T	18	56776885	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0432802385991467	0.102
18	54444117	T	A	18	56776886	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.986434202690055	0.444
18	54444117	T	C	18	56776886	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.926288152787484	0.572
18	54444117	T	G	18	56776886	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.849806712491204	0.556
18	54444118	C	A	18	56776887	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.583111813601444	0.334
18	54444118	C	G	18	56776887	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0620286258494696	0.198
18	54444118	C	T	18	56776887	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.847337882712061	0.4
18	54444119	T	A	18	56776888	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0016317838280908	0.0
18	54444119	T	C	18	56776888	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0013645491085333	0.0
18	54444119	T	G	18	56776888	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00245500627845545	0.184
18	54446650	C	A	18	56779419	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00172132163898789	0.098
18	54446650	C	G	18	56779419	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999256681255442	0.974
18	54446650	C	T	18	56779419	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.94954349908156E-5	0.0
18	54446651	A	C	18	56779420	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.36194295630804E-5	0.002
18	54446651	A	G	18	56779420	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.11491128452475E-5	0.004
18	54446651	A	T	18	56779420	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.63837048076275E-5	0.014
18	54446652	T	A	18	56779421	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.73633957285645	0.432
18	54446652	T	C	18	56779421	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.89151510773988E-5	0.008
18	54446652	T	G	18	56779421	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999912712457979	0.99
18	54446653	T	A	18	56779422	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.636251861160082	0.56
18	54446653	T	C	18	56779422	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00180739210722065	0.032
18	54446653	T	G	18	56779422	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.491910815492897	0.452
18	54446654	T	A	18	56779423	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0648810638285005	0.186
18	54446654	T	C	18	56779423	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.37666500275229E-5	0.0
18	54446654	T	G	18	56779423	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0157639121412944	0.218
18	54446655	T	A	18	56779424	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.493609797599237	0.406
18	54446655	T	C	18	56779424	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.26195222403777E-4	0.024
18	54446655	T	G	18	56779424	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.262276401843725	0.374
18	54446656	T	A	18	56779425	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999915263559568	0.982
18	54446656	T	C	18	56779425	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.75742691934271E-5	0.002
18	54446656	T	G	18	56779425	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0973921551774183	0.4
18	54446657	G	A	18	56779426	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.22563776724941E-5	0.002
18	54446657	G	C	18	56779426	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.95076949036759E-5	0.0
18	54446657	G	T	18	56779426	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.95076949036759E-5	0.004
18	54446658	A	C	18	56779427	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.67737461588978E-4	0.006
18	54446658	A	G	18	56779427	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.54887209237859E-4	0.04
18	54446658	A	T	18	56779427	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.28011048213205E-4	0.034
18	54446659	C	A	18	56779428	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.605892338494022	0.572
18	54446659	C	G	18	56779428	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999437468141865	0.928
18	54446659	C	T	18	56779428	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00280605912883333	0.058
18	54446660	A	C	18	56779429	y	y	splicing	WDR7(NM_052834:exon17:c.2849-2A>C;NM_015285:exon18:c.2948-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2849-2A>C;ENST00000254442:exon18:c.2948-2A>C)	.	.	0.999989917668626	0.926
18	54446660	A	G	18	56779429	y	y	splicing	WDR7(NM_052834:exon17:c.2849-2A>G;NM_015285:exon18:c.2948-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2849-2A>G;ENST00000254442:exon18:c.2948-2A>G)	.	.	0.999989917668626	0.926
18	54446660	A	T	18	56779429	y	y	splicing	WDR7(NM_052834:exon17:c.2849-2A>T;NM_015285:exon18:c.2948-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2849-2A>T;ENST00000254442:exon18:c.2948-2A>T)	.	.	0.999989917668626	0.928
18	54446661	G	A	18	56779430	y	y	splicing	WDR7(NM_052834:exon17:c.2849-1G>A;NM_015285:exon18:c.2948-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2849-1G>A;ENST00000254442:exon18:c.2948-1G>A)	.	.	0.999981760802075	0.94
18	54446661	G	C	18	56779430	y	y	splicing	WDR7(NM_052834:exon17:c.2849-1G>C;NM_015285:exon18:c.2948-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2849-1G>C;ENST00000254442:exon18:c.2948-1G>C)	.	.	0.999981760802075	0.94
18	54446661	G	T	18	56779430	y	y	splicing	WDR7(NM_052834:exon17:c.2849-1G>T;NM_015285:exon18:c.2948-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2849-1G>T;ENST00000254442:exon18:c.2948-1G>T)	.	.	0.999981760802075	0.94
18	54446662	G	A	18	56779431	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.G2948A:p.G983D;WDR7:NM_052834:exon17:c.G2849A:p.G950D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.G2948A:p.G983D;ENSG00000091157:ENST00000357574:exon17:c.G2849A:p.G950D;	0.993905091232451	0.88
18	54446662	G	C	18	56779431	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.G2948C:p.G983A;WDR7:NM_052834:exon17:c.G2849C:p.G950A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.G2948C:p.G983A;ENSG00000091157:ENST00000357574:exon17:c.G2849C:p.G950A;	0.999578933984422	0.99
18	54446662	G	T	18	56779431	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.G2948T:p.G983V;WDR7:NM_052834:exon17:c.G2849T:p.G950V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.G2948T:p.G983V;ENSG00000091157:ENST00000357574:exon17:c.G2849T:p.G950V;	0.999578343456737	0.988
18	54446663	T	A	18	56779432	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon18:c.T2949A:p.G983G;WDR7:NM_052834:exon17:c.T2850A:p.G950G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.T2949A:p.G983G;ENSG00000091157:ENST00000357574:exon17:c.T2850A:p.G950G;	3.94593614995894E-4	0.028
18	54446663	T	C	18	56779432	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon18:c.T2949C:p.G983G;WDR7:NM_052834:exon17:c.T2850C:p.G950G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.T2949C:p.G983G;ENSG00000091157:ENST00000357574:exon17:c.T2850C:p.G950G;	9.51965495591976E-4	0.018
18	54446663	T	G	18	56779432	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon18:c.T2949G:p.G983G;WDR7:NM_052834:exon17:c.T2850G:p.G950G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.T2949G:p.G983G;ENSG00000091157:ENST00000357574:exon17:c.T2850G:p.G950G;	9.51965495591976E-4	0.014
18	54446778	G	A	18	56779547	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.G3064A:p.E1022K;WDR7:NM_052834:exon17:c.G2965A:p.E989K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.G3064A:p.E1022K;ENSG00000091157:ENST00000357574:exon17:c.G2965A:p.E989K;	0.847783126857941	0.756
18	54446778	G	C	18	56779547	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.G3064C:p.E1022Q;WDR7:NM_052834:exon17:c.G2965C:p.E989Q;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.G3064C:p.E1022Q;ENSG00000091157:ENST00000357574:exon17:c.G2965C:p.E989Q;	0.797731595232128	0.688
18	54446778	G	T	18	56779547	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon18:c.G3064T:p.E1022X;WDR7:NM_052834:exon17:c.G2965T:p.E989X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon18:c.G3064T:p.E1022X;ENSG00000091157:ENST00000357574:exon17:c.G2965T:p.E989X;	0.995196128356649	0.746
18	54446779	A	C	18	56779548	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.A3065C:p.E1022A;WDR7:NM_052834:exon17:c.A2966C:p.E989A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.A3065C:p.E1022A;ENSG00000091157:ENST00000357574:exon17:c.A2966C:p.E989A;	0.999892598180572	0.994
18	54446779	A	G	18	56779548	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.A3065G:p.E1022G;WDR7:NM_052834:exon17:c.A2966G:p.E989G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.A3065G:p.E1022G;ENSG00000091157:ENST00000357574:exon17:c.A2966G:p.E989G;	0.999883665851325	0.998
18	54446779	A	T	18	56779548	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.A3065T:p.E1022V;WDR7:NM_052834:exon17:c.A2966T:p.E989V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.A3065T:p.E1022V;ENSG00000091157:ENST00000357574:exon17:c.A2966T:p.E989V;	0.999897253085863	1.0
18	54446780	G	A	18	56779549	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon18:c.G3066A:p.E1022E;WDR7:NM_052834:exon17:c.G2967A:p.E989E;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.G3066A:p.E1022E;ENSG00000091157:ENST00000357574:exon17:c.G2967A:p.E989E;	0.99997154253371	1.0
18	54446780	G	C	18	56779549	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.G3066C:p.E1022D;WDR7:NM_052834:exon17:c.G2967C:p.E989D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.G3066C:p.E1022D;ENSG00000091157:ENST00000357574:exon17:c.G2967C:p.E989D;	0.999997551188445	1.0
18	54446780	G	T	18	56779549	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon18:c.G3066T:p.E1022D;WDR7:NM_052834:exon17:c.G2967T:p.E989D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon18:c.G3066T:p.E1022D;ENSG00000091157:ENST00000357574:exon17:c.G2967T:p.E989D;	0.999988836628117	1.0
18	54446781	G	A	18	56779550	y	y	splicing	WDR7(NM_052834:exon17:c.2967+1G>A;NM_015285:exon18:c.3066+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2967+1G>A;ENST00000254442:exon18:c.3066+1G>A)	.	.	0.999985666489905	0.952
18	54446781	G	C	18	56779550	y	y	splicing	WDR7(NM_052834:exon17:c.2967+1G>C;NM_015285:exon18:c.3066+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2967+1G>C;ENST00000254442:exon18:c.3066+1G>C)	.	.	0.999985666489905	0.952
18	54446781	G	T	18	56779550	y	y	splicing	WDR7(NM_052834:exon17:c.2967+1G>T;NM_015285:exon18:c.3066+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2967+1G>T;ENST00000254442:exon18:c.3066+1G>T)	.	.	0.999985666489905	0.952
18	54446782	T	A	18	56779551	y	y	splicing	WDR7(NM_052834:exon17:c.2967+2T>A;NM_015285:exon18:c.3066+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2967+2T>A;ENST00000254442:exon18:c.3066+2T>A)	.	.	0.999994304721892	0.942
18	54446782	T	C	18	56779551	y	y	splicing	WDR7(NM_052834:exon17:c.2967+2T>C;NM_015285:exon18:c.3066+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2967+2T>C;ENST00000254442:exon18:c.3066+2T>C)	.	.	0.993717549486084	0.644
18	54446782	T	G	18	56779551	y	y	splicing	WDR7(NM_052834:exon17:c.2967+2T>G;NM_015285:exon18:c.3066+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon17:c.2967+2T>G;ENST00000254442:exon18:c.3066+2T>G)	.	.	0.999994304721892	0.942
18	54446783	A	C	18	56779552	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999959291607004	0.992
18	54446783	A	G	18	56779552	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999265329192715	0.958
18	54446783	A	T	18	56779552	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999964092153375	0.994
18	54446784	A	C	18	56779553	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.71822825275718	0.592
18	54446784	A	G	18	56779553	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.988978001844511	0.724
18	54446784	A	T	18	56779553	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.877700406309856	0.636
18	54446785	T	A	18	56779554	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.64896988612497E-4	0.022
18	54446785	T	C	18	56779554	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.3669330166183E-4	0.032
18	54446785	T	G	18	56779554	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.39417857756276E-5	0.044
18	54446786	G	A	18	56779555	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.60713822973987E-4	0.052
18	54446786	G	C	18	56779555	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.1108121600498E-4	0.052
18	54446786	G	T	18	56779555	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.26910724289992E-5	0.022
18	54446787	C	A	18	56779556	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.66819705636046E-4	0.016
18	54446787	C	G	18	56779556	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.36946744860998E-4	0.024
18	54446787	C	T	18	56779556	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0043779816120463	0.288
18	54446788	T	A	18	56779557	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.91204534018746E-5	0.0
18	54446788	T	C	18	56779557	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.96258824575056E-4	0.0
18	54446788	T	G	18	56779557	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.42087561587765E-5	0.0
18	54448752	C	A	18	56781521	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.94885582750888E-4	0.052
18	54448752	C	G	18	56781521	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.14967259706174E-4	0.028
18	54448752	C	T	18	56781521	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.84275610127688E-5	0.0
18	54448753	T	A	18	56781522	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999934579229331	0.966
18	54448753	T	C	18	56781522	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.39667975872746E-4	0.128
18	54448753	T	G	18	56781522	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.72026820208463	0.554
18	54448754	G	A	18	56781523	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.68857333701099E-4	0.012
18	54448754	G	C	18	56781523	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.69953212614239E-5	0.004
18	54448754	G	T	18	56781523	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.67207157408562E-5	0.008
18	54448755	T	A	18	56781524	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999903002727002	0.98
18	54448755	T	C	18	56781524	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00322214178481864	0.1
18	54448755	T	G	18	56781524	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.174984464198286	0.338
18	54448756	G	A	18	56781525	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998793182830363	0.99
18	54448756	G	C	18	56781525	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.26891068459534E-4	0.006
18	54448756	G	T	18	56781525	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.27655271435306E-4	0.026
18	54448757	G	A	18	56781526	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.56475000245852E-5	0.162
18	54448757	G	C	18	56781526	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.27219349862041E-5	0.0
18	54448757	G	T	18	56781526	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.27219349862041E-5	0.0
18	54448758	T	A	18	56781527	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0170616827944943	0.36
18	54448758	T	C	18	56781527	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.64332912235713E-4	0.048
18	54448758	T	G	18	56781527	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0195851271091533	0.378
18	54448759	C	A	18	56781528	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0030874935185624	0.066
18	54448759	C	G	18	56781528	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00273363329781681	0.068
18	54448759	C	T	18	56781528	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.3096521922547E-5	0.0
18	54448760	T	A	18	56781529	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.59165227969577E-4	0.004
18	54448760	T	C	18	56781529	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.73432070525633E-5	0.056
18	54448760	T	G	18	56781529	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.1875475754809E-4	0.076
18	54448761	T	A	18	56781530	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.393311502816951	0.484
18	54448761	T	C	18	56781530	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.35635547502321E-4	0.02
18	54448761	T	G	18	56781530	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998929928745049	0.734
18	54448762	A	C	18	56781531	y	y	splicing	WDR7(NM_052834:exon18:c.2968-2A>C;NM_015285:exon19:c.3067-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.2968-2A>C;ENST00000254442:exon19:c.3067-2A>C)	.	.	0.999946188727699	0.944
18	54448762	A	G	18	56781531	y	y	splicing	WDR7(NM_052834:exon18:c.2968-2A>G;NM_015285:exon19:c.3067-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.2968-2A>G;ENST00000254442:exon19:c.3067-2A>G)	.	.	0.999946188727699	0.944
18	54448762	A	T	18	56781531	y	y	splicing	WDR7(NM_052834:exon18:c.2968-2A>T;NM_015285:exon19:c.3067-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.2968-2A>T;ENST00000254442:exon19:c.3067-2A>T)	.	.	0.99994568797423	0.942
18	54448763	G	A	18	56781532	y	y	splicing	WDR7(NM_052834:exon18:c.2968-1G>A;NM_015285:exon19:c.3067-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.2968-1G>A;ENST00000254442:exon19:c.3067-1G>A)	.	.	0.999938422912956	0.942
18	54448763	G	C	18	56781532	y	y	splicing	WDR7(NM_052834:exon18:c.2968-1G>C;NM_015285:exon19:c.3067-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.2968-1G>C;ENST00000254442:exon19:c.3067-1G>C)	.	.	0.999938422912956	0.946
18	54448763	G	T	18	56781532	y	y	splicing	WDR7(NM_052834:exon18:c.2968-1G>T;NM_015285:exon19:c.3067-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.2968-1G>T;ENST00000254442:exon19:c.3067-1G>T)	.	.	0.999938422912956	0.942
18	54448764	G	A	18	56781533	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.G3067A:p.V1023M;WDR7:NM_052834:exon18:c.G2968A:p.V990M;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.G3067A:p.V1023M;ENSG00000091157:ENST00000357574:exon18:c.G2968A:p.V990M;	0.999869833111369	0.978
18	54448764	G	C	18	56781533	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.G3067C:p.V1023L;WDR7:NM_052834:exon18:c.G2968C:p.V990L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.G3067C:p.V1023L;ENSG00000091157:ENST00000357574:exon18:c.G2968C:p.V990L;	0.999883330256919	0.978
18	54448764	G	T	18	56781533	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.G3067T:p.V1023L;WDR7:NM_052834:exon18:c.G2968T:p.V990L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.G3067T:p.V1023L;ENSG00000091157:ENST00000357574:exon18:c.G2968T:p.V990L;	0.999910206663143	1.0
18	54448765	T	A	18	56781534	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.T3068A:p.V1023E;WDR7:NM_052834:exon18:c.T2969A:p.V990E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.T3068A:p.V1023E;ENSG00000091157:ENST00000357574:exon18:c.T2969A:p.V990E;	0.594100170437775	0.322
18	54448765	T	C	18	56781534	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.T3068C:p.V1023A;WDR7:NM_052834:exon18:c.T2969C:p.V990A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.T3068C:p.V1023A;ENSG00000091157:ENST00000357574:exon18:c.T2969C:p.V990A;	0.431645128908043	0.326
18	54448765	T	G	18	56781534	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.T3068G:p.V1023G;WDR7:NM_052834:exon18:c.T2969G:p.V990G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.T3068G:p.V1023G;ENSG00000091157:ENST00000357574:exon18:c.T2969G:p.V990G;	0.62376642364072	0.292
18	54448885	C	A	18	56781654	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon19:c.C3188A:p.S1063X;WDR7:NM_052834:exon18:c.C3089A:p.S1030X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon19:c.C3188A:p.S1063X;ENSG00000091157:ENST00000357574:exon18:c.C3089A:p.S1030X;	0.939507727231465	0.858
18	54448885	C	G	18	56781654	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon19:c.C3188G:p.S1063X;WDR7:NM_052834:exon18:c.C3089G:p.S1030X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon19:c.C3188G:p.S1063X;ENSG00000091157:ENST00000357574:exon18:c.C3089G:p.S1030X;	0.908863175215295	0.636
18	54448885	C	T	18	56781654	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.C3188T:p.S1063L;WDR7:NM_052834:exon18:c.C3089T:p.S1030L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.C3188T:p.S1063L;ENSG00000091157:ENST00000357574:exon18:c.C3089T:p.S1030L;	0.997978254235227	0.902
18	54448886	A	C	18	56781655	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon19:c.A3189C:p.S1063S;WDR7:NM_052834:exon18:c.A3090C:p.S1030S;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.A3189C:p.S1063S;ENSG00000091157:ENST00000357574:exon18:c.A3090C:p.S1030S;	0.786761022682841	0.634
18	54448886	A	G	18	56781655	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon19:c.A3189G:p.S1063S;WDR7:NM_052834:exon18:c.A3090G:p.S1030S;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.A3189G:p.S1063S;ENSG00000091157:ENST00000357574:exon18:c.A3090G:p.S1030S;	0.686554182814159	0.506
18	54448886	A	T	18	56781655	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon19:c.A3189T:p.S1063S;WDR7:NM_052834:exon18:c.A3090T:p.S1030S;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.A3189T:p.S1063S;ENSG00000091157:ENST00000357574:exon18:c.A3090T:p.S1030S;	0.666467939311616	0.758
18	54448887	C	A	18	56781656	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.C3190A:p.P1064T;WDR7:NM_052834:exon18:c.C3091A:p.P1031T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.C3190A:p.P1064T;ENSG00000091157:ENST00000357574:exon18:c.C3091A:p.P1031T;	0.941407007330615	0.79
18	54448887	C	G	18	56781656	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.C3190G:p.P1064A;WDR7:NM_052834:exon18:c.C3091G:p.P1031A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.C3190G:p.P1064A;ENSG00000091157:ENST00000357574:exon18:c.C3091G:p.P1031A;	0.781475110893	0.454
18	54448887	C	T	18	56781656	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon19:c.C3190T:p.P1064S;WDR7:NM_052834:exon18:c.C3091T:p.P1031S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon19:c.C3190T:p.P1064S;ENSG00000091157:ENST00000357574:exon18:c.C3091T:p.P1031S;	0.990738022744037	0.642
18	54448888	G	A	18	56781657	y	y	splicing	WDR7(NM_052834:exon18:c.3091+1G>A;NM_015285:exon19:c.3190+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.3091+1G>A;ENST00000254442:exon19:c.3190+1G>A)	.	.	0.999986675681007	0.932
18	54448888	G	C	18	56781657	y	y	splicing	WDR7(NM_052834:exon18:c.3091+1G>C;NM_015285:exon19:c.3190+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.3091+1G>C;ENST00000254442:exon19:c.3190+1G>C)	.	.	0.999986675681007	0.932
18	54448888	G	T	18	56781657	y	y	splicing	WDR7(NM_052834:exon18:c.3091+1G>T;NM_015285:exon19:c.3190+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.3091+1G>T;ENST00000254442:exon19:c.3190+1G>T)	.	.	0.999986675681007	0.932
18	54448889	T	A	18	56781658	y	y	splicing	WDR7(NM_052834:exon18:c.3091+2T>A;NM_015285:exon19:c.3190+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.3091+2T>A;ENST00000254442:exon19:c.3190+2T>A)	.	.	0.999988247793601	0.928
18	54448889	T	C	18	56781658	y	y	splicing	WDR7(NM_052834:exon18:c.3091+2T>C;NM_015285:exon19:c.3190+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.3091+2T>C;ENST00000254442:exon19:c.3190+2T>C)	.	.	0.992054276455321	0.624
18	54448889	T	G	18	56781658	y	y	splicing	WDR7(NM_052834:exon18:c.3091+2T>G;NM_015285:exon19:c.3190+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon18:c.3091+2T>G;ENST00000254442:exon19:c.3190+2T>G)	.	.	0.999988247793601	0.928
18	54448890	A	C	18	56781659	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999538247336599	0.946
18	54448890	A	G	18	56781659	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.318767306507434	0.44
18	54448890	A	T	18	56781659	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999720902266942	0.918
18	54448891	A	C	18	56781660	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.793708224967393	0.73
18	54448891	A	G	18	56781660	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.963049520920065	0.652
18	54448891	A	T	18	56781660	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.994070106520326	0.87
18	54448892	G	A	18	56781661	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999982841098555	0.988
18	54448892	G	C	18	56781661	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999854420739225	0.922
18	54448892	G	T	18	56781661	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999973359267212	0.966
18	54448893	A	C	18	56781662	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.93890243184918E-5	0.022
18	54448893	A	G	18	56781662	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.00437708186228E-5	0.0
18	54448893	A	T	18	56781662	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.55851216052398E-5	0.002
18	54448894	G	A	18	56781663	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.31713683938585E-5	0.0
18	54448894	G	C	18	56781663	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.31713683938585E-5	0.0
18	54448894	G	T	18	56781663	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.06081185806379E-4	0.0
18	54448895	T	A	18	56781664	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.04546037389895E-5	0.0
18	54448895	T	C	18	56781664	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.87680416612575E-5	0.0
18	54448895	T	G	18	56781664	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.6963633432921E-5	0.0
18	54483250	T	A	18	56816019	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00317866506952914	0.312
18	54483250	T	C	18	56816019	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.71623544901759E-4	0.012
18	54483250	T	G	18	56816019	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.989146917445204	0.866
18	54483251	A	C	18	56816020	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.23900548684356E-5	0.0
18	54483251	A	G	18	56816020	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.02838762963928E-5	0.0
18	54483251	A	T	18	56816020	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.62383353019026E-5	0.038
18	54483252	T	A	18	56816021	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.102810240637323	0.494
18	54483252	T	C	18	56816021	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00408489047256393	0.148
18	54483252	T	G	18	56816021	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999882136853522	0.98
18	54483253	T	A	18	56816022	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.144305372981662	0.506
18	54483253	T	C	18	56816022	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.70957242916415E-4	0.05
18	54483253	T	G	18	56816022	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.163851033999088	0.452
18	54483254	T	A	18	56816023	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999932042893966	0.99
18	54483254	T	C	18	56816023	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.17210756770262E-4	0.022
18	54483254	T	G	18	56816023	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.17691810639519	0.518
18	54483255	G	A	18	56816024	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.13352023165633E-4	0.0
18	54483255	G	C	18	56816024	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.77843592334912E-4	0.0
18	54483255	G	T	18	56816024	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.65353474286248E-4	0.006
18	54483256	T	A	18	56816025	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.338363937293081	0.454
18	54483256	T	C	18	56816025	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.28629342519104E-4	0.052
18	54483256	T	G	18	56816025	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.504998014788658	0.488
18	54483257	T	A	18	56816026	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.988219898499435	0.874
18	54483257	T	C	18	56816026	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0446973680892013	0.218
18	54483257	T	G	18	56816026	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.991593314936431	0.748
18	54483258	T	A	18	56816027	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.47331358121209E-4	0.008
18	54483258	T	C	18	56816027	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.23609671633223E-5	0.066
18	54483258	T	G	18	56816027	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.52594445925255E-4	0.052
18	54483259	T	A	18	56816028	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.464223575307869	0.426
18	54483259	T	C	18	56816028	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.31317211814866E-5	0.002
18	54483259	T	G	18	56816028	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998849728304042	0.824
18	54483260	A	C	18	56816029	y	y	splicing	WDR7(NM_052834:exon19:c.3092-2A>C;NM_015285:exon20:c.3191-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3092-2A>C;ENST00000254442:exon20:c.3191-2A>C)	.	.	0.999988247793601	0.932
18	54483260	A	G	18	56816029	y	y	splicing	WDR7(NM_052834:exon19:c.3092-2A>G;NM_015285:exon20:c.3191-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3092-2A>G;ENST00000254442:exon20:c.3191-2A>G)	.	.	0.999988247793601	0.932
18	54483260	A	T	18	56816029	y	y	splicing	WDR7(NM_052834:exon19:c.3092-2A>T;NM_015285:exon20:c.3191-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3092-2A>T;ENST00000254442:exon20:c.3191-2A>T)	.	.	0.999988247793601	0.932
18	54483261	G	A	18	56816030	y	y	splicing	WDR7(NM_052834:exon19:c.3092-1G>A;NM_015285:exon20:c.3191-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3092-1G>A;ENST00000254442:exon20:c.3191-1G>A)	.	.	0.999990361384395	0.938
18	54483261	G	C	18	56816030	y	y	splicing	WDR7(NM_052834:exon19:c.3092-1G>C;NM_015285:exon20:c.3191-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3092-1G>C;ENST00000254442:exon20:c.3191-1G>C)	.	.	0.999990361384395	0.938
18	54483261	G	T	18	56816030	y	y	splicing	WDR7(NM_052834:exon19:c.3092-1G>T;NM_015285:exon20:c.3191-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3092-1G>T;ENST00000254442:exon20:c.3191-1G>T)	.	.	0.999990361384395	0.938
18	54483262	C	A	18	56816031	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.C3191A:p.P1064H;WDR7:NM_052834:exon19:c.C3092A:p.P1031H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.C3191A:p.P1064H;ENSG00000091157:ENST00000357574:exon19:c.C3092A:p.P1031H;	0.959577415532313	0.728
18	54483262	C	G	18	56816031	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.C3191G:p.P1064R;WDR7:NM_052834:exon19:c.C3092G:p.P1031R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.C3191G:p.P1064R;ENSG00000091157:ENST00000357574:exon19:c.C3092G:p.P1031R;	0.978937950790405	0.682
18	54483262	C	T	18	56816031	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.C3191T:p.P1064L;WDR7:NM_052834:exon19:c.C3092T:p.P1031L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.C3191T:p.P1064L;ENSG00000091157:ENST00000357574:exon19:c.C3092T:p.P1031L;	0.99563919769155	0.924
18	54483263	T	A	18	56816032	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon20:c.T3192A:p.P1064P;WDR7:NM_052834:exon19:c.T3093A:p.P1031P;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.T3192A:p.P1064P;ENSG00000091157:ENST00000357574:exon19:c.T3093A:p.P1031P;	0.0322026279690651	0.188
18	54483263	T	C	18	56816032	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon20:c.T3192C:p.P1064P;WDR7:NM_052834:exon19:c.T3093C:p.P1031P;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.T3192C:p.P1064P;ENSG00000091157:ENST00000357574:exon19:c.T3093C:p.P1031P;	0.0184497582353899	0.194
18	54483263	T	G	18	56816032	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon20:c.T3192G:p.P1064P;WDR7:NM_052834:exon19:c.T3093G:p.P1031P;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.T3192G:p.P1064P;ENSG00000091157:ENST00000357574:exon19:c.T3093G:p.P1031P;	0.0039220788957678	0.088
18	54483373	C	A	18	56816142	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.C3302A:p.T1101N;WDR7:NM_052834:exon19:c.C3203A:p.T1068N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.C3302A:p.T1101N;ENSG00000091157:ENST00000357574:exon19:c.C3203A:p.T1068N;	0.962216012415727	0.746
18	54483373	C	G	18	56816142	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.C3302G:p.T1101S;WDR7:NM_052834:exon19:c.C3203G:p.T1068S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.C3302G:p.T1101S;ENSG00000091157:ENST00000357574:exon19:c.C3203G:p.T1068S;	0.892555726374553	0.55
18	54483373	C	T	18	56816142	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.C3302T:p.T1101I;WDR7:NM_052834:exon19:c.C3203T:p.T1068I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.C3302T:p.T1101I;ENSG00000091157:ENST00000357574:exon19:c.C3203T:p.T1068I;	0.998300734961802	0.638
18	54483374	T	A	18	56816143	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon20:c.T3303A:p.T1101T;WDR7:NM_052834:exon19:c.T3204A:p.T1068T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.T3303A:p.T1101T;ENSG00000091157:ENST00000357574:exon19:c.T3204A:p.T1068T;	3.27804738434129E-5	0.1
18	54483374	T	C	18	56816143	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon20:c.T3303C:p.T1101T;WDR7:NM_052834:exon19:c.T3204C:p.T1068T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.T3303C:p.T1101T;ENSG00000091157:ENST00000357574:exon19:c.T3204C:p.T1068T;	8.57599901351477E-5	0.038
18	54483374	T	G	18	56816143	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon20:c.T3303G:p.T1101T;WDR7:NM_052834:exon19:c.T3204G:p.T1068T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.T3303G:p.T1101T;ENSG00000091157:ENST00000357574:exon19:c.T3204G:p.T1068T;	8.98223548529416E-5	0.036
18	54483375	G	A	18	56816144	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.G3304A:p.G1102S;WDR7:NM_052834:exon19:c.G3205A:p.G1069S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.G3304A:p.G1102S;ENSG00000091157:ENST00000357574:exon19:c.G3205A:p.G1069S;	0.999990813623444	0.994
18	54483375	G	C	18	56816144	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.G3304C:p.G1102R;WDR7:NM_052834:exon19:c.G3205C:p.G1069R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.G3304C:p.G1102R;ENSG00000091157:ENST00000357574:exon19:c.G3205C:p.G1069R;	0.999996903371634	0.982
18	54483375	G	T	18	56816144	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon20:c.G3304T:p.G1102C;WDR7:NM_052834:exon19:c.G3205T:p.G1069C;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon20:c.G3304T:p.G1102C;ENSG00000091157:ENST00000357574:exon19:c.G3205T:p.G1069C;	0.999993551597986	0.984
18	54483376	G	A	18	56816145	y	y	splicing	WDR7(NM_052834:exon19:c.3205+1G>A;NM_015285:exon20:c.3304+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3205+1G>A;ENST00000254442:exon20:c.3304+1G>A)	.	.	0.999990361384395	0.938
18	54483376	G	C	18	56816145	y	y	splicing	WDR7(NM_052834:exon19:c.3205+1G>C;NM_015285:exon20:c.3304+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3205+1G>C;ENST00000254442:exon20:c.3304+1G>C)	.	.	0.999990361384395	0.938
18	54483376	G	T	18	56816145	y	y	splicing	WDR7(NM_052834:exon19:c.3205+1G>T;NM_015285:exon20:c.3304+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3205+1G>T;ENST00000254442:exon20:c.3304+1G>T)	.	.	0.999990361384395	0.938
18	54483377	T	A	18	56816146	y	y	splicing	WDR7(NM_052834:exon19:c.3205+2T>A;NM_015285:exon20:c.3304+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3205+2T>A;ENST00000254442:exon20:c.3304+2T>A)	.	.	0.999988247793601	0.93
18	54483377	T	C	18	56816146	y	y	splicing	WDR7(NM_052834:exon19:c.3205+2T>C;NM_015285:exon20:c.3304+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3205+2T>C;ENST00000254442:exon20:c.3304+2T>C)	.	.	0.999934643991786	0.902
18	54483377	T	G	18	56816146	y	y	splicing	WDR7(NM_052834:exon19:c.3205+2T>G;NM_015285:exon20:c.3304+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon19:c.3205+2T>G;ENST00000254442:exon20:c.3304+2T>G)	.	.	0.999988247793601	0.93
18	54483378	A	C	18	56816147	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.992737727376093	0.882
18	54483378	A	G	18	56816147	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00876100713627998	0.144
18	54483378	A	T	18	56816147	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.983650677651532	0.728
18	54483379	A	C	18	56816148	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0848638064212934	0.366
18	54483379	A	G	18	56816148	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.328570308502525	0.426
18	54483379	A	T	18	56816148	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.430951742298724	0.372
18	54483380	G	A	18	56816149	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999680905079056	0.882
18	54483380	G	C	18	56816149	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999834854327444	0.912
18	54483380	G	T	18	56816149	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997985406690551	0.816
18	54483381	C	A	18	56816150	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.84619777032327E-5	0.01
18	54483381	C	G	18	56816150	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.70712258681227E-5	0.062
18	54483381	C	T	18	56816150	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.54180835682237E-5	0.012
18	54483382	A	C	18	56816151	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.15941453541388E-5	0.0
18	54483382	A	G	18	56816151	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.72254510743229E-5	0.0
18	54483382	A	T	18	56816151	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.72254510743229E-5	0.0
18	54483383	C	A	18	56816152	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.66721712464991E-6	0.0
18	54483383	C	G	18	56816152	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.82152694110954E-6	0.002
18	54483383	C	T	18	56816152	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.66721712464991E-6	0.0
18	54547163	T	A	18	56879932	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.718351801655857	0.624
18	54547163	T	C	18	56879932	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00242702046259316	0.082
18	54547163	T	G	18	56879932	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.685101194779344	0.548
18	54547164	T	A	18	56879933	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.988914966628128	0.774
18	54547164	T	C	18	56879933	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0696785381624396	0.12
18	54547164	T	G	18	56879933	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.642974633606358	0.528
18	54547165	T	A	18	56879934	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999758016104528	0.96
18	54547165	T	C	18	56879934	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.429519007667E-5	0.022
18	54547165	T	G	18	56879934	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.695991576692307	0.408
18	54547166	G	A	18	56879935	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999362990145896	0.874
18	54547166	G	C	18	56879935	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.483348555393134	0.584
18	54547166	G	T	18	56879935	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.722601612117116	0.448
18	54547167	G	A	18	56879936	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.15502390499952E-4	0.004
18	54547167	G	C	18	56879936	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.13684286492187E-4	0.0
18	54547167	G	T	18	56879936	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.05523637818236E-4	0.002
18	54547168	T	A	18	56879937	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.327322626401498	0.406
18	54547168	T	C	18	56879937	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.07607152286547E-4	0.054
18	54547168	T	G	18	56879937	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.264490025866233	0.262
18	54547169	C	A	18	56879938	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00698278691897229	0.138
18	54547169	C	G	18	56879938	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00331276219343006	0.116
18	54547169	C	T	18	56879938	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.36146515471601E-5	0.006
18	54547170	T	A	18	56879939	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.853679209768468	0.734
18	54547170	T	C	18	56879939	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00154584113471037	0.032
18	54547170	T	G	18	56879939	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.690759048373624	0.708
18	54547171	T	A	18	56879940	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00740503635681112	0.02
18	54547171	T	C	18	56879940	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00112192930589379	0.032
18	54547171	T	G	18	56879940	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00580419570456559	0.024
18	54547172	C	A	18	56879941	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.278213584213883	0.4
18	54547172	C	G	18	56879941	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999856124957076	0.932
18	54547172	C	T	18	56879941	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00113872534646015	0.06
18	54547173	A	C	18	56879942	y	y	splicing	WDR7(NM_052834:exon20:c.3206-2A>C;NM_015285:exon21:c.3305-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3206-2A>C;ENST00000254442:exon21:c.3305-2A>C)	.	.	0.999988247793601	0.928
18	54547173	A	G	18	56879942	y	y	splicing	WDR7(NM_052834:exon20:c.3206-2A>G;NM_015285:exon21:c.3305-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3206-2A>G;ENST00000254442:exon21:c.3305-2A>G)	.	.	0.999988247793601	0.928
18	54547173	A	T	18	56879942	y	y	splicing	WDR7(NM_052834:exon20:c.3206-2A>T;NM_015285:exon21:c.3305-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3206-2A>T;ENST00000254442:exon21:c.3305-2A>T)	.	.	0.999988247793601	0.928
18	54547174	G	A	18	56879943	y	y	splicing	WDR7(NM_052834:exon20:c.3206-1G>A;NM_015285:exon21:c.3305-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3206-1G>A;ENST00000254442:exon21:c.3305-1G>A)	.	.	0.999985532734767	0.938
18	54547174	G	C	18	56879943	y	y	splicing	WDR7(NM_052834:exon20:c.3206-1G>C;NM_015285:exon21:c.3305-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3206-1G>C;ENST00000254442:exon21:c.3305-1G>C)	.	.	0.999985532734767	0.938
18	54547174	G	T	18	56879943	y	y	splicing	WDR7(NM_052834:exon20:c.3206-1G>T;NM_015285:exon21:c.3305-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3206-1G>T;ENST00000254442:exon21:c.3305-1G>T)	.	.	0.999985532734767	0.938
18	54547175	G	A	18	56879944	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.G3305A:p.G1102D;WDR7:NM_052834:exon20:c.G3206A:p.G1069D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.G3305A:p.G1102D;ENSG00000091157:ENST00000357574:exon20:c.G3206A:p.G1069D;	0.42223633789186	0.322
18	54547175	G	C	18	56879944	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.G3305C:p.G1102A;WDR7:NM_052834:exon20:c.G3206C:p.G1069A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.G3305C:p.G1102A;ENSG00000091157:ENST00000357574:exon20:c.G3206C:p.G1069A;	0.921802577035186	0.858
18	54547175	G	T	18	56879944	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.G3305T:p.G1102V;WDR7:NM_052834:exon20:c.G3206T:p.G1069V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.G3305T:p.G1102V;ENSG00000091157:ENST00000357574:exon20:c.G3206T:p.G1069V;	0.980755513805337	0.91
18	54547176	T	A	18	56879945	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon21:c.T3306A:p.G1102G;WDR7:NM_052834:exon20:c.T3207A:p.G1069G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3306A:p.G1102G;ENSG00000091157:ENST00000357574:exon20:c.T3207A:p.G1069G;	0.00161147525671812	0.036
18	54547176	T	C	18	56879945	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon21:c.T3306C:p.G1102G;WDR7:NM_052834:exon20:c.T3207C:p.G1069G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3306C:p.G1102G;ENSG00000091157:ENST00000357574:exon20:c.T3207C:p.G1069G;	0.00270063145099834	0.048
18	54547176	T	G	18	56879945	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon21:c.T3306G:p.G1102G;WDR7:NM_052834:exon20:c.T3207G:p.G1069G;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3306G:p.G1102G;ENSG00000091157:ENST00000357574:exon20:c.T3207G:p.G1069G;	0.00203938202496684	0.044
18	54547394	C	A	18	56880163	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.C3524A:p.T1175N;WDR7:NM_052834:exon20:c.C3425A:p.T1142N;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.C3524A:p.T1175N;ENSG00000091157:ENST00000357574:exon20:c.C3425A:p.T1142N;	0.950434337910873	0.816
18	54547394	C	G	18	56880163	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.C3524G:p.T1175S;WDR7:NM_052834:exon20:c.C3425G:p.T1142S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.C3524G:p.T1175S;ENSG00000091157:ENST00000357574:exon20:c.C3425G:p.T1142S;	0.922553386031578	0.636
18	54547394	C	T	18	56880163	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.C3524T:p.T1175I;WDR7:NM_052834:exon20:c.C3425T:p.T1142I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.C3524T:p.T1175I;ENSG00000091157:ENST00000357574:exon20:c.C3425T:p.T1142I;	0.998753202407858	0.838
18	54547395	T	A	18	56880164	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon21:c.T3525A:p.T1175T;WDR7:NM_052834:exon20:c.T3426A:p.T1142T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3525A:p.T1175T;ENSG00000091157:ENST00000357574:exon20:c.T3426A:p.T1142T;	1.90011078089672E-4	0.166
18	54547395	T	C	18	56880164	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon21:c.T3525C:p.T1175T;WDR7:NM_052834:exon20:c.T3426C:p.T1142T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3525C:p.T1175T;ENSG00000091157:ENST00000357574:exon20:c.T3426C:p.T1142T;	0.00119008788236813	0.036
18	54547395	T	G	18	56880164	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon21:c.T3525G:p.T1175T;WDR7:NM_052834:exon20:c.T3426G:p.T1142T;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3525G:p.T1175T;ENSG00000091157:ENST00000357574:exon20:c.T3426G:p.T1142T;	9.87356299929719E-4	0.068
18	54547396	T	A	18	56880165	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.T3526A:p.C1176S;WDR7:NM_052834:exon20:c.T3427A:p.C1143S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3526A:p.C1176S;ENSG00000091157:ENST00000357574:exon20:c.T3427A:p.C1143S;	0.00393843944608172	0.022
18	54547396	T	C	18	56880165	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.T3526C:p.C1176R;WDR7:NM_052834:exon20:c.T3427C:p.C1143R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3526C:p.C1176R;ENSG00000091157:ENST00000357574:exon20:c.T3427C:p.C1143R;	0.961844485043918	0.844
18	54547396	T	G	18	56880165	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon21:c.T3526G:p.C1176G;WDR7:NM_052834:exon20:c.T3427G:p.C1143G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon21:c.T3526G:p.C1176G;ENSG00000091157:ENST00000357574:exon20:c.T3427G:p.C1143G;	4.71446758891265E-4	0.054
18	54547397	G	A	18	56880166	y	y	splicing	WDR7(NM_052834:exon20:c.3427+1G>A;NM_015285:exon21:c.3526+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3427+1G>A;ENST00000254442:exon21:c.3526+1G>A)	.	.	0.999985532734767	0.938
18	54547397	G	C	18	56880166	y	y	splicing	WDR7(NM_052834:exon20:c.3427+1G>C;NM_015285:exon21:c.3526+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3427+1G>C;ENST00000254442:exon21:c.3526+1G>C)	.	.	0.999985532734767	0.938
18	54547397	G	T	18	56880166	y	y	splicing	WDR7(NM_052834:exon20:c.3427+1G>T;NM_015285:exon21:c.3526+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3427+1G>T;ENST00000254442:exon21:c.3526+1G>T)	.	.	0.999985532734767	0.938
18	54547398	T	A	18	56880167	y	y	splicing	WDR7(NM_052834:exon20:c.3427+2T>A;NM_015285:exon21:c.3526+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3427+2T>A;ENST00000254442:exon21:c.3526+2T>A)	.	.	0.999988247793601	0.928
18	54547398	T	C	18	56880167	y	y	splicing	WDR7(NM_052834:exon20:c.3427+2T>C;NM_015285:exon21:c.3526+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3427+2T>C;ENST00000254442:exon21:c.3526+2T>C)	.	.	0.99340600729494	0.676
18	54547398	T	G	18	56880167	y	y	splicing	WDR7(NM_052834:exon20:c.3427+2T>G;NM_015285:exon21:c.3526+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon20:c.3427+2T>G;ENST00000254442:exon21:c.3526+2T>G)	.	.	0.999988247793601	0.928
18	54547399	A	C	18	56880168	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99977730300607	0.95
18	54547399	A	G	18	56880168	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.910275100619059	0.482
18	54547399	A	T	18	56880168	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999761310359087	0.992
18	54547400	A	C	18	56880169	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999049697070906	0.924
18	54547400	A	G	18	56880169	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998723516671017	0.99
18	54547400	A	T	18	56880169	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99835562218343	0.966
18	54547401	G	A	18	56880170	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999963856395248	1.0
18	54547401	G	C	18	56880170	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999983460720395	0.982
18	54547401	G	T	18	56880170	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999965845723167	0.988
18	54547402	T	A	18	56880171	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.989889165834403	0.784
18	54547402	T	C	18	56880171	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.992434981649612	0.926
18	54547402	T	G	18	56880171	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.992569692597308	0.924
18	54547403	T	A	18	56880172	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.11263097132154E-4	0.014
18	54547403	T	C	18	56880172	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.74798446780977E-4	0.01
18	54547403	T	G	18	56880172	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.74798446780977E-4	0.01
18	54547404	T	A	18	56880173	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.73636068472499E-5	0.002
18	54547404	T	C	18	56880173	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.71674505994017E-4	0.004
18	54547404	T	G	18	56880173	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.54605487730096E-4	0.004
18	54558177	A	C	18	56890946	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	4.09774573448081E-5	0.004
18	54558177	A	G	18	56890946	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	4.09774573448081E-5	0.004
18	54558177	A	T	18	56890946	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	7.44782069694124E-5	0.002
18	54558178	A	C	18	56890947	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	4.02784891650442E-5	0.006
18	54558178	A	G	18	56890947	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	4.02784891650442E-5	0.006
18	54558178	A	T	18	56890947	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	3.01209109375653E-5	0.014
18	54558179	T	A	18	56890948	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	2.3994564522384E-5	0.018
18	54558179	T	C	18	56890948	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	2.3994564522384E-5	0.034
18	54558179	T	G	18	56890948	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	2.3994564522384E-5	0.032
18	54558180	G	A	18	56890949	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000586124:exon1:c.116+1G>A)	.	.	2.45277156108894E-5	0.0
18	54558180	G	C	18	56890949	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000586124:exon1:c.116+1G>C)	.	.	2.45277156108894E-5	0.0
18	54558180	G	T	18	56890949	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000586124:exon1:c.116+1G>T)	.	.	2.45277156108894E-5	0.0
18	54558181	T	A	18	56890950	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000586124:exon1:c.116+2T>A)	.	.	2.74891647094722E-5	0.006
18	54558181	T	C	18	56890950	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000586124:exon1:c.116+2T>C)	.	.	2.41256482875619E-5	0.006
18	54558181	T	G	18	56890950	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000586124:exon1:c.116+2T>G)	.	.	2.41256482875619E-5	0.006
18	54558182	G	A	18	56890951	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07620641825897E-5	0.0
18	54558182	G	C	18	56890951	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07620641825897E-5	0.0
18	54558182	G	T	18	56890951	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07620641825897E-5	0.0
18	54558183	A	C	18	56890952	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.45277156108894E-5	0.0
18	54558183	A	G	18	56890952	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.45277156108894E-5	0.0
18	54558183	A	T	18	56890952	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.78864525412067E-5	0.0
18	54558184	G	A	18	56890953	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.35717535886112E-5	0.034
18	54558184	G	C	18	56890953	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.35717535886112E-5	0.034
18	54558184	G	T	18	56890953	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.35717535886112E-5	0.034
18	54558185	T	A	18	56890954	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.5504966642727E-5	0.012
18	54558185	T	C	18	56890954	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.5504966642727E-5	0.008
18	54558185	T	G	18	56890954	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.5504966642727E-5	0.008
18	54558186	A	C	18	56890955	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07620641825897E-5	0.002
18	54558186	A	G	18	56890955	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07620641825897E-5	0.002
18	54558186	A	T	18	56890955	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.31929338280547E-5	0.004
18	54558187	T	A	18	56890956	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.80274866394675E-5	0.0
18	54558187	T	C	18	56890956	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.41069364790736E-5	0.008
18	54558187	T	G	18	56890956	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.41069364790736E-5	0.008
18	54591141	C	A	18	56923910	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.7709324115248E-4	0.046
18	54591141	C	G	18	56923910	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00169566637684198	0.056
18	54591141	C	T	18	56923910	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.10746239823669E-5	0.0
18	54591142	T	A	18	56923911	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.368314231029153	0.57
18	54591142	T	C	18	56923911	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0203639854697469	0.214
18	54591142	T	G	18	56923911	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.391025852049434	0.49
18	54591143	A	C	18	56923912	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.5173869879809E-5	0.0
18	54591143	A	G	18	56923912	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.72967115120472E-5	0.008
18	54591143	A	T	18	56923912	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.5173869879809E-5	0.008
18	54591144	T	A	18	56923913	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0547834692578475	0.378
18	54591144	T	C	18	56923913	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00231235793294196	0.122
18	54591144	T	G	18	56923913	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999897288430118	0.988
18	54591145	A	C	18	56923914	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.49811543647207E-5	0.004
18	54591145	A	G	18	56923914	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.5320749387313E-5	0.0
18	54591145	A	T	18	56923914	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.49811543647207E-5	0.004
18	54591146	A	C	18	56923915	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.81408287138274E-5	0.0
18	54591146	A	G	18	56923915	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997896709560651	0.994
18	54591146	A	T	18	56923915	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.8079341060072E-5	0.002
18	54591147	T	A	18	56923916	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.395044645737078	0.484
18	54591147	T	C	18	56923916	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.60937820615972E-4	0.01
18	54591147	T	G	18	56923916	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999909395213156	0.974
18	54591148	T	A	18	56923917	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.878079542871759	0.548
18	54591148	T	C	18	56923917	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.101683187795592	0.244
18	54591148	T	G	18	56923917	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.960303871312845	0.628
18	54591149	T	A	18	56923918	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.85617646973853E-4	0.008
18	54591149	T	C	18	56923918	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.42346430280121E-4	0.084
18	54591149	T	G	18	56923918	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.94186380746475E-4	0.068
18	54591150	C	A	18	56923919	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.594398968864638	0.568
18	54591150	C	G	18	56923919	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.991106441937091	0.756
18	54591150	C	T	18	56923919	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.48497529870014E-4	0.1
18	54591151	A	C	18	56923920	y	y	splicing	WDR7(NM_052834:exon21:c.3428-2A>C;NM_015285:exon22:c.3527-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3428-2A>C;ENST00000254442:exon22:c.3527-2A>C;ENST00000586124:exon2:c.117-2A>C)	.	.	0.999973440375664	0.932
18	54591151	A	G	18	56923920	y	y	splicing	WDR7(NM_052834:exon21:c.3428-2A>G;NM_015285:exon22:c.3527-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3428-2A>G;ENST00000254442:exon22:c.3527-2A>G;ENST00000586124:exon2:c.117-2A>G)	.	.	0.999973440375664	0.936
18	54591151	A	T	18	56923920	y	y	splicing	WDR7(NM_052834:exon21:c.3428-2A>T;NM_015285:exon22:c.3527-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3428-2A>T;ENST00000254442:exon22:c.3527-2A>T;ENST00000586124:exon2:c.117-2A>T)	.	.	0.999973440375664	0.934
18	54591152	G	A	18	56923921	y	y	splicing	WDR7(NM_052834:exon21:c.3428-1G>A;NM_015285:exon22:c.3527-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3428-1G>A;ENST00000254442:exon22:c.3527-1G>A;ENST00000586124:exon2:c.117-1G>A)	.	.	0.999989528922238	0.938
18	54591152	G	C	18	56923921	y	y	splicing	WDR7(NM_052834:exon21:c.3428-1G>C;NM_015285:exon22:c.3527-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3428-1G>C;ENST00000254442:exon22:c.3527-1G>C;ENST00000586124:exon2:c.117-1G>C)	.	.	0.999981247005408	0.934
18	54591152	G	T	18	56923921	y	y	splicing	WDR7(NM_052834:exon21:c.3428-1G>T;NM_015285:exon22:c.3527-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3428-1G>T;ENST00000254442:exon22:c.3527-1G>T;ENST00000586124:exon2:c.117-1G>T)	.	.	0.999989528922238	0.938
18	54591153	G	A	18	56923922	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.G3527A:p.C1176Y;WDR7:NM_052834:exon21:c.G3428A:p.C1143Y;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.G3527A:p.C1176Y;ENSG00000091157:ENST00000357574:exon21:c.G3428A:p.C1143Y;	0.999624640738116	0.912
18	54591153	G	C	18	56923922	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.G3527C:p.C1176S;WDR7:NM_052834:exon21:c.G3428C:p.C1143S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.G3527C:p.C1176S;ENSG00000091157:ENST00000357574:exon21:c.G3428C:p.C1143S;	0.768089717540796	0.556
18	54591153	G	T	18	56923922	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.G3527T:p.C1176F;WDR7:NM_052834:exon21:c.G3428T:p.C1143F;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.G3527T:p.C1176F;ENSG00000091157:ENST00000357574:exon21:c.G3428T:p.C1143F;	0.999917009141113	0.98
18	54591154	C	A	18	56923923	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon22:c.C3528A:p.C1176X;WDR7:NM_052834:exon21:c.C3429A:p.C1143X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon22:c.C3528A:p.C1176X;ENSG00000091157:ENST00000357574:exon21:c.C3429A:p.C1143X;	0.00223202211887851	0.45
18	54591154	C	G	18	56923923	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.C3528G:p.C1176W;WDR7:NM_052834:exon21:c.C3429G:p.C1143W;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.C3528G:p.C1176W;ENSG00000091157:ENST00000357574:exon21:c.C3429G:p.C1143W;	3.65341849897489E-5	0.006
18	54591154	C	T	18	56923923	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon22:c.C3528T:p.C1176C;WDR7:NM_052834:exon21:c.C3429T:p.C1143C;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.C3528T:p.C1176C;ENSG00000091157:ENST00000357574:exon21:c.C3429T:p.C1143C;	6.76016377566282E-5	0.044
18	54591337	C	A	18	56924106	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon22:c.C3711A:p.A1237A;WDR7:NM_052834:exon21:c.C3612A:p.A1204A;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.C3711A:p.A1237A;ENSG00000091157:ENST00000357574:exon21:c.C3612A:p.A1204A;	0.0207556576368811	0.19
18	54591337	C	G	18	56924106	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon22:c.C3711G:p.A1237A;WDR7:NM_052834:exon21:c.C3612G:p.A1204A;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.C3711G:p.A1237A;ENSG00000091157:ENST00000357574:exon21:c.C3612G:p.A1204A;	0.0311938813623517	0.128
18	54591337	C	T	18	56924106	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon22:c.C3711T:p.A1237A;WDR7:NM_052834:exon21:c.C3612T:p.A1204A;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.C3711T:p.A1237A;ENSG00000091157:ENST00000357574:exon21:c.C3612T:p.A1204A;	0.997233947163742	0.854
18	54591338	A	C	18	56924107	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.A3712C:p.N1238H;WDR7:NM_052834:exon21:c.A3613C:p.N1205H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.A3712C:p.N1238H;ENSG00000091157:ENST00000357574:exon21:c.A3613C:p.N1205H;	0.998725339176761	0.908
18	54591338	A	G	18	56924107	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.A3712G:p.N1238D;WDR7:NM_052834:exon21:c.A3613G:p.N1205D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.A3712G:p.N1238D;ENSG00000091157:ENST00000357574:exon21:c.A3613G:p.N1205D;	0.996256846099713	0.804
18	54591338	A	T	18	56924107	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.A3712T:p.N1238Y;WDR7:NM_052834:exon21:c.A3613T:p.N1205Y;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.A3712T:p.N1238Y;ENSG00000091157:ENST00000357574:exon21:c.A3613T:p.N1205Y;	0.999809178434596	0.974
18	54591339	A	C	18	56924108	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.A3713C:p.N1238T;WDR7:NM_052834:exon21:c.A3614C:p.N1205T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.A3713C:p.N1238T;ENSG00000091157:ENST00000357574:exon21:c.A3614C:p.N1205T;	0.0206587701888733	0.158
18	54591339	A	G	18	56924108	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.A3713G:p.N1238S;WDR7:NM_052834:exon21:c.A3614G:p.N1205S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.A3713G:p.N1238S;ENSG00000091157:ENST00000357574:exon21:c.A3614G:p.N1205S;	0.00126765764675112	0.06
18	54591339	A	T	18	56924108	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon22:c.A3713T:p.N1238I;WDR7:NM_052834:exon21:c.A3614T:p.N1205I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon22:c.A3713T:p.N1238I;ENSG00000091157:ENST00000357574:exon21:c.A3614T:p.N1205I;	0.1645977635445	0.372
18	54591340	G	A	18	56924109	y	y	splicing	WDR7(NM_052834:exon21:c.3614+1G>A;NM_015285:exon22:c.3713+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3614+1G>A;ENST00000254442:exon22:c.3713+1G>A;ENST00000586124:exon2:c.303+1G>A)	.	.	0.99998038344137	0.924
18	54591340	G	C	18	56924109	y	y	splicing	WDR7(NM_052834:exon21:c.3614+1G>C;NM_015285:exon22:c.3713+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3614+1G>C;ENST00000254442:exon22:c.3713+1G>C;ENST00000586124:exon2:c.303+1G>C)	.	.	0.99998038344137	0.922
18	54591340	G	T	18	56924109	y	y	splicing	WDR7(NM_052834:exon21:c.3614+1G>T;NM_015285:exon22:c.3713+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3614+1G>T;ENST00000254442:exon22:c.3713+1G>T;ENST00000586124:exon2:c.303+1G>T)	.	.	0.99998038344137	0.924
18	54591341	T	A	18	56924110	y	y	splicing	WDR7(NM_052834:exon21:c.3614+2T>A;NM_015285:exon22:c.3713+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3614+2T>A;ENST00000254442:exon22:c.3713+2T>A;ENST00000586124:exon2:c.303+2T>A)	.	.	0.999989917668626	0.946
18	54591341	T	C	18	56924110	y	y	splicing	WDR7(NM_052834:exon21:c.3614+2T>C;NM_015285:exon22:c.3713+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3614+2T>C;ENST00000254442:exon22:c.3713+2T>C;ENST00000586124:exon2:c.303+2T>C)	.	.	0.994485838132979	0.662
18	54591341	T	G	18	56924110	y	y	splicing	WDR7(NM_052834:exon21:c.3614+2T>G;NM_015285:exon22:c.3713+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon21:c.3614+2T>G;ENST00000254442:exon22:c.3713+2T>G;ENST00000586124:exon2:c.303+2T>G)	.	.	0.999989917668626	0.946
18	54591342	A	C	18	56924111	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999938958750001	0.984
18	54591342	A	G	18	56924111	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998796009873531	0.974
18	54591342	A	T	18	56924111	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999966756235194	0.992
18	54591343	T	A	18	56924112	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.03975473216402E-5	0.044
18	54591343	T	C	18	56924112	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.65835533624792E-5	0.008
18	54591343	T	G	18	56924112	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.9635000662377E-5	0.016
18	54591344	G	A	18	56924113	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999990472828385	0.998
18	54591344	G	C	18	56924113	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999993251394943	1.0
18	54591344	G	T	18	56924113	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999994804780155	0.982
18	54591345	T	A	18	56924114	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996686947313116	0.732
18	54591345	T	C	18	56924114	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.977858617753671	0.796
18	54591345	T	G	18	56924114	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.981801776773978	0.796
18	54591346	G	A	18	56924115	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.26270627074763E-4	0.006
18	54591346	G	C	18	56924115	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.67452847061818E-4	0.008
18	54591346	G	T	18	56924115	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.98871528847366E-4	0.028
18	54591347	T	A	18	56924116	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.34404526231716E-4	0.044
18	54591347	T	C	18	56924116	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.45667536247747E-5	0.0
18	54591347	T	G	18	56924116	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.79652139950128E-4	0.014
18	54603007	A	C	18	56935776	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.54393222188833E-4	0.114
18	54603007	A	G	18	56935776	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.49026316763347E-5	0.07
18	54603007	A	T	18	56935776	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.13236256649121E-4	0.21
18	54603008	T	A	18	56935777	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999550078410349	0.928
18	54603008	T	C	18	56935777	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.896394317260821	0.692
18	54603008	T	G	18	56935777	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999979630316745	0.978
18	54603009	C	A	18	56935778	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.378805203212898	0.404
18	54603009	C	G	18	56935778	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.277587631370963	0.376
18	54603009	C	T	18	56935778	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.31998735000751	0.512
18	54603010	C	A	18	56935779	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.973848556081437	0.714
18	54603010	C	G	18	56935779	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.962965483269152	0.704
18	54603010	C	T	18	56935779	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.930773887395813	0.64
18	54603011	C	A	18	56935780	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.153718211138812	0.31
18	54603011	C	G	18	56935780	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0255937063846638	0.228
18	54603011	C	T	18	56935780	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.2437895424415E-4	0.146
18	54603012	T	A	18	56935781	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999455647500944	0.958
18	54603012	T	C	18	56935781	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00483306491141504	0.072
18	54603012	T	G	18	56935781	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.79886973706041	0.526
18	54603013	G	A	18	56935782	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00460037278487944	0.06
18	54603013	G	C	18	56935782	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.72137152069804E-4	0.086
18	54603013	G	T	18	56935782	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.72544740917098E-4	0.034
18	54603014	T	A	18	56935783	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.922160785624639	0.624
18	54603014	T	C	18	56935783	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.012588241418808	0.232
18	54603014	T	G	18	56935783	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.954738796343095	0.642
18	54603015	T	A	18	56935784	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0478854999861022	0.164
18	54603015	T	C	18	56935784	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0289163244999359	0.154
18	54603015	T	G	18	56935784	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0899597601264522	0.168
18	54603016	T	A	18	56935785	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.980857002872429	0.742
18	54603016	T	C	18	56935785	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00227523168274472	0.092
18	54603016	T	G	18	56935785	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998863180891372	0.924
18	54603017	A	C	18	56935786	y	y	splicing	WDR7(NM_052834:exon22:c.3615-2A>C;NM_015285:exon23:c.3714-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3615-2A>C;ENST00000254442:exon23:c.3714-2A>C;ENST00000586124:exon3:c.304-2A>C)	.	.	0.999988247793601	0.95
18	54603017	A	G	18	56935786	y	y	splicing	WDR7(NM_052834:exon22:c.3615-2A>G;NM_015285:exon23:c.3714-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3615-2A>G;ENST00000254442:exon23:c.3714-2A>G;ENST00000586124:exon3:c.304-2A>G)	.	.	0.999988247793601	0.95
18	54603017	A	T	18	56935786	y	y	splicing	WDR7(NM_052834:exon22:c.3615-2A>T;NM_015285:exon23:c.3714-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3615-2A>T;ENST00000254442:exon23:c.3714-2A>T;ENST00000586124:exon3:c.304-2A>T)	.	.	0.999988247793601	0.95
18	54603018	G	A	18	56935787	y	y	splicing	WDR7(NM_052834:exon22:c.3615-1G>A;NM_015285:exon23:c.3714-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3615-1G>A;ENST00000254442:exon23:c.3714-1G>A;ENST00000586124:exon3:c.304-1G>A)	.	.	0.999986675681007	0.948
18	54603018	G	C	18	56935787	y	y	splicing	WDR7(NM_052834:exon22:c.3615-1G>C;NM_015285:exon23:c.3714-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3615-1G>C;ENST00000254442:exon23:c.3714-1G>C;ENST00000586124:exon3:c.304-1G>C)	.	.	0.999986675681007	0.948
18	54603018	G	T	18	56935787	y	y	splicing	WDR7(NM_052834:exon22:c.3615-1G>T;NM_015285:exon23:c.3714-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3615-1G>T;ENST00000254442:exon23:c.3714-1G>T;ENST00000586124:exon3:c.304-1G>T)	.	.	0.999986675681007	0.948
18	54603019	C	A	18	56935788	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.C3714A:p.N1238K;WDR7:NM_052834:exon22:c.C3615A:p.N1205K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.C3714A:p.N1238K;ENSG00000091157:ENST00000357574:exon22:c.C3615A:p.N1205K;	0.92551965629432	0.682
18	54603019	C	G	18	56935788	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.C3714G:p.N1238K;WDR7:NM_052834:exon22:c.C3615G:p.N1205K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.C3714G:p.N1238K;ENSG00000091157:ENST00000357574:exon22:c.C3615G:p.N1205K;	0.945876095373394	0.596
18	54603019	C	T	18	56935788	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon23:c.C3714T:p.N1238N;WDR7:NM_052834:exon22:c.C3615T:p.N1205N;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.C3714T:p.N1238N;ENSG00000091157:ENST00000357574:exon22:c.C3615T:p.N1205N;	0.0551038244078198	0.314
18	54603020	A	C	18	56935789	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.A3715C:p.I1239L;WDR7:NM_052834:exon22:c.A3616C:p.I1206L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.A3715C:p.I1239L;ENSG00000091157:ENST00000357574:exon22:c.A3616C:p.I1206L;	6.56145621691816E-4	0.064
18	54603020	A	G	18	56935789	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.A3715G:p.I1239V;WDR7:NM_052834:exon22:c.A3616G:p.I1206V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.A3715G:p.I1239V;ENSG00000091157:ENST00000357574:exon22:c.A3616G:p.I1206V;	0.00683986471211306	0.032
18	54603020	A	T	18	56935789	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.A3715T:p.I1239F;WDR7:NM_052834:exon22:c.A3616T:p.I1206F;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.A3715T:p.I1239F;ENSG00000091157:ENST00000357574:exon22:c.A3616T:p.I1206F;	0.15648940026276	0.398
18	54603134	G	A	18	56935903	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.G3829A:p.E1277K;WDR7:NM_052834:exon22:c.G3730A:p.E1244K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.G3829A:p.E1277K;ENSG00000091157:ENST00000357574:exon22:c.G3730A:p.E1244K;	0.945653911282768	0.826
18	54603134	G	C	18	56935903	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.G3829C:p.E1277Q;WDR7:NM_052834:exon22:c.G3730C:p.E1244Q;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.G3829C:p.E1277Q;ENSG00000091157:ENST00000357574:exon22:c.G3730C:p.E1244Q;	0.928822266692319	0.762
18	54603134	G	T	18	56935903	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon23:c.G3829T:p.E1277X;WDR7:NM_052834:exon22:c.G3730T:p.E1244X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon23:c.G3829T:p.E1277X;ENSG00000091157:ENST00000357574:exon22:c.G3730T:p.E1244X;	0.985762252942285	0.898
18	54603135	A	C	18	56935904	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.A3830C:p.E1277A;WDR7:NM_052834:exon22:c.A3731C:p.E1244A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.A3830C:p.E1277A;ENSG00000091157:ENST00000357574:exon22:c.A3731C:p.E1244A;	0.99301630388163	0.864
18	54603135	A	G	18	56935904	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.A3830G:p.E1277G;WDR7:NM_052834:exon22:c.A3731G:p.E1244G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.A3830G:p.E1277G;ENSG00000091157:ENST00000357574:exon22:c.A3731G:p.E1244G;	0.999257735456123	0.97
18	54603135	A	T	18	56935904	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.A3830T:p.E1277V;WDR7:NM_052834:exon22:c.A3731T:p.E1244V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.A3830T:p.E1277V;ENSG00000091157:ENST00000357574:exon22:c.A3731T:p.E1244V;	0.998572457910783	0.95
18	54603136	G	A	18	56935905	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon23:c.G3831A:p.E1277E;WDR7:NM_052834:exon22:c.G3732A:p.E1244E;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.G3831A:p.E1277E;ENSG00000091157:ENST00000357574:exon22:c.G3732A:p.E1244E;	0.999955210036253	0.976
18	54603136	G	C	18	56935905	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.G3831C:p.E1277D;WDR7:NM_052834:exon22:c.G3732C:p.E1244D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.G3831C:p.E1277D;ENSG00000091157:ENST00000357574:exon22:c.G3732C:p.E1244D;	0.999996849704514	0.98
18	54603136	G	T	18	56935905	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon23:c.G3831T:p.E1277D;WDR7:NM_052834:exon22:c.G3732T:p.E1244D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon23:c.G3831T:p.E1277D;ENSG00000091157:ENST00000357574:exon22:c.G3732T:p.E1244D;	0.999975268858396	0.984
18	54603137	G	A	18	56935906	y	y	splicing	WDR7(NM_052834:exon22:c.3732+1G>A;NM_015285:exon23:c.3831+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3732+1G>A;ENST00000254442:exon23:c.3831+1G>A;ENST00000586124:exon3:c.421+1G>A;ENST00000591449:exon1:c.62+1G>A)	.	.	0.999986675681007	0.932
18	54603137	G	C	18	56935906	y	y	splicing	WDR7(NM_052834:exon22:c.3732+1G>C;NM_015285:exon23:c.3831+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3732+1G>C;ENST00000254442:exon23:c.3831+1G>C;ENST00000586124:exon3:c.421+1G>C;ENST00000591449:exon1:c.62+1G>C)	.	.	0.999986675681007	0.932
18	54603137	G	T	18	56935906	y	y	splicing	WDR7(NM_052834:exon22:c.3732+1G>T;NM_015285:exon23:c.3831+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3732+1G>T;ENST00000254442:exon23:c.3831+1G>T;ENST00000586124:exon3:c.421+1G>T;ENST00000591449:exon1:c.62+1G>T)	.	.	0.999986675681007	0.932
18	54603138	T	A	18	56935907	y	y	splicing	WDR7(NM_052834:exon22:c.3732+2T>A;NM_015285:exon23:c.3831+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3732+2T>A;ENST00000254442:exon23:c.3831+2T>A;ENST00000586124:exon3:c.421+2T>A;ENST00000591449:exon1:c.62+2T>A)	.	.	0.999988247793601	0.928
18	54603138	T	C	18	56935907	y	y	splicing	WDR7(NM_052834:exon22:c.3732+2T>C;NM_015285:exon23:c.3831+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3732+2T>C;ENST00000254442:exon23:c.3831+2T>C;ENST00000586124:exon3:c.421+2T>C;ENST00000591449:exon1:c.62+2T>C)	.	.	0.999943260809542	0.868
18	54603138	T	G	18	56935907	y	y	splicing	WDR7(NM_052834:exon22:c.3732+2T>G;NM_015285:exon23:c.3831+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon22:c.3732+2T>G;ENST00000254442:exon23:c.3831+2T>G;ENST00000586124:exon3:c.421+2T>G;ENST00000591449:exon1:c.62+2T>G)	.	.	0.999988247793601	0.928
18	54603139	G	A	18	56935908	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.16154126813176E-4	0.032
18	54603139	G	C	18	56935908	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.985451202264491	0.692
18	54603139	G	T	18	56935908	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.953164611754002	0.622
18	54603140	A	C	18	56935909	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.672285753749669	0.394
18	54603140	A	G	18	56935909	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.87193711114424	0.572
18	54603140	A	T	18	56935909	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.938577841954914	0.64
18	54603141	G	A	18	56935910	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998334982172328	0.922
18	54603141	G	C	18	56935910	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999345017875873	0.876
18	54603141	G	T	18	56935910	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996252503752758	0.904
18	54603142	C	A	18	56935911	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.68207290031538E-4	0.034
18	54603142	C	G	18	56935911	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.47287218736743E-4	0.028
18	54603142	C	T	18	56935911	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.68699633867424E-5	0.006
18	54603143	G	A	18	56935912	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.34100185927528E-5	0.0
18	54603143	G	C	18	56935912	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.09105271056891E-5	0.008
18	54603143	G	T	18	56935912	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.99225673566173E-5	0.0
18	54603144	G	A	18	56935913	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.66579566323271E-5	0.0
18	54603144	G	C	18	56935913	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.5732183902016E-5	0.002
18	54603144	G	T	18	56935913	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.78847169436615E-5	0.002
18	54603400	T	A	18	56936169	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.76357584838511E-5	0.012
18	54603400	T	C	18	56936169	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.76357584838511E-5	0.012
18	54603400	T	G	18	56936169	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.76357584838511E-5	0.012
18	54603401	C	A	18	56936170	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.00043844550976E-5	0.016
18	54603401	C	G	18	56936170	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.00043844550976E-5	0.016
18	54603401	C	T	18	56936170	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.00043844550976E-5	0.016
18	54603402	T	A	18	56936171	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.16406450908574E-5	0.0
18	54603402	T	C	18	56936171	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.49011727534591E-5	0.0
18	54603402	T	G	18	56936171	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.49011727534591E-5	0.0
18	54603403	G	A	18	56936172	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.50422508170598E-4	0.008
18	54603403	G	C	18	56936172	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.27356238700608E-4	0.004
18	54603403	G	T	18	56936172	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.50422508170598E-4	0.01
18	54603404	A	C	18	56936173	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.30176921285033E-4	0.002
18	54603404	A	G	18	56936173	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.30176921285033E-4	0.002
18	54603404	A	T	18	56936173	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.30176921285033E-4	0.002
18	54603405	A	C	18	56936174	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.94758645736361E-4	0.002
18	54603405	A	G	18	56936174	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.94758645736361E-4	0.002
18	54603405	A	T	18	56936174	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.47473673452552E-4	0.002
18	54603406	T	A	18	56936175	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.89925739660516E-5	0.006
18	54603406	T	C	18	56936175	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.89925739660516E-5	0.004
18	54603406	T	G	18	56936175	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.89925739660516E-5	0.004
18	54603407	T	A	18	56936176	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.12261273777789E-4	0.002
18	54603407	T	C	18	56936176	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.09805911176448E-4	0.002
18	54603407	T	G	18	56936176	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.91205019027834E-4	0.002
18	54603408	A	C	18	56936177	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07620641825897E-5	0.0
18	54603408	A	G	18	56936177	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07620641825897E-5	0.0
18	54603408	A	T	18	56936177	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.07620641825897E-5	0.0
18	54603409	C	A	18	56936178	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.12051756480288E-5	0.002
18	54603409	C	G	18	56936178	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.12051756480288E-5	0.002
18	54603409	C	T	18	56936178	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.12051756480288E-5	0.002
18	54603410	A	C	18	56936179	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.63-2A>C)	.	.	6.89925739660516E-5	0.008
18	54603410	A	G	18	56936179	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.63-2A>G)	.	.	6.89925739660516E-5	0.008
18	54603410	A	T	18	56936179	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.63-2A>T)	.	.	5.15941453541388E-5	0.004
18	54603411	G	A	18	56936180	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.63-1G>A)	.	.	2.82827935381688E-5	0.002
18	54603411	G	C	18	56936180	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.63-1G>C)	.	.	2.82827935381688E-5	0.002
18	54603411	G	T	18	56936180	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.63-1G>T)	.	.	2.82827935381688E-5	0.002
18	54603412	C	A	18	56936181	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	3.69930370103191E-5	0.0
18	54603412	C	G	18	56936181	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	3.69930370103191E-5	0.0
18	54603412	C	T	18	56936181	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	3.69930370103191E-5	0.0
18	54603413	A	C	18	56936182	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	4.90028566392549E-5	0.002
18	54603413	A	G	18	56936182	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	4.90028566392549E-5	0.002
18	54603413	A	T	18	56936182	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	5.40839623268995E-5	0.0
18	54603458	C	A	18	56936227	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	2.3994564522384E-5	0.008
18	54603458	C	G	18	56936227	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	2.3994564522384E-5	0.008
18	54603458	C	T	18	56936227	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	2.3994564522384E-5	0.008
18	54603459	A	C	18	56936228	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	2.95853904142978E-5	0.002
18	54603459	A	G	18	56936228	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	2.95853904142978E-5	0.002
18	54603459	A	T	18	56936228	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	5.48893788513386E-5	0.002
18	54603460	T	A	18	56936229	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	5.40839623268995E-5	0.0
18	54603460	T	C	18	56936229	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	5.40839623268995E-5	0.0
18	54603460	T	G	18	56936229	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	5.40839623268995E-5	0.0
18	54603461	G	A	18	56936230	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.111+1G>A)	.	.	1.96638438091922E-5	0.0
18	54603461	G	C	18	56936230	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.111+1G>C)	.	.	1.96638438091922E-5	0.0
18	54603461	G	T	18	56936230	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.111+1G>T)	.	.	1.96638438091922E-5	0.0
18	54603462	T	A	18	56936231	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.111+2T>A)	.	.	8.30297025138908E-5	0.002
18	54603462	T	C	18	56936231	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.111+2T>C)	.	.	3.09395893123295E-5	0.002
18	54603462	T	G	18	56936231	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000591449:exon2:c.111+2T>G)	.	.	3.09395893123295E-5	0.002
18	54603463	A	C	18	56936232	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.25896182624293E-5	0.0
18	54603463	A	G	18	56936232	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.25896182624293E-5	0.0
18	54603463	A	T	18	56936232	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.54404724015672E-5	0.0
18	54603464	A	C	18	56936233	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.21545390107586E-4	0.216
18	54603464	A	G	18	56936233	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.21545390107586E-4	0.216
18	54603464	A	T	18	56936233	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.21545390107586E-4	0.216
18	54603465	G	A	18	56936234	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.52881759733747E-5	0.0
18	54603465	G	C	18	56936234	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.52881759733747E-5	0.0
18	54603465	G	T	18	56936234	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.52881759733747E-5	0.0
18	54603466	T	A	18	56936235	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.93008933363103E-5	0.0
18	54603466	T	C	18	56936235	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.82827935381688E-5	0.002
18	54603466	T	G	18	56936235	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.82827935381688E-5	0.002
18	54603467	A	C	18	56936236	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.93008933363103E-5	0.002
18	54603467	A	G	18	56936236	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.93008933363103E-5	0.002
18	54603467	A	T	18	56936236	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.93008933363103E-5	0.002
18	54603468	C	A	18	56936237	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.52881759733747E-5	0.0
18	54603468	C	G	18	56936237	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.52881759733747E-5	0.0
18	54603468	C	T	18	56936237	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.30945796578933E-5	0.0
18	54605752	A	C	18	56938521	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.45812020795169E-5	0.004
18	54605752	A	G	18	56938521	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.995002619908737	0.98
18	54605752	A	T	18	56938521	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.57789588824127E-5	0.0
18	54605753	A	C	18	56938522	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.67944982512943E-5	0.002
18	54605753	A	G	18	56938522	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.440062990594517	0.71
18	54605753	A	T	18	56938522	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.44362172635607E-5	0.022
18	54605754	T	A	18	56938523	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999756014955049	0.962
18	54605754	T	C	18	56938523	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.015061081897886	0.072
18	54605754	T	G	18	56938523	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99973147874849	0.97
18	54605755	G	A	18	56938524	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.07370979792441E-4	0.0
18	54605755	G	C	18	56938524	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.75352188955775E-5	0.0
18	54605755	G	T	18	56938524	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.5510242050806E-5	0.026
18	54605756	T	A	18	56938525	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.995648038395078	0.72
18	54605756	T	C	18	56938525	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00229988159841861	0.04
18	54605756	T	G	18	56938525	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.985934397341572	0.75
18	54605757	T	A	18	56938526	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00284630045756463	0.166
18	54605757	T	C	18	56938526	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.64001594415155E-4	0.012
18	54605757	T	G	18	56938526	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00971759549238776	0.178
18	54605758	T	A	18	56938527	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.837923674021519	0.562
18	54605758	T	C	18	56938527	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.24194856648317E-5	0.028
18	54605758	T	G	18	56938527	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.811039735457341	0.552
18	54605759	T	A	18	56938528	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998251921062756	0.86
18	54605759	T	C	18	56938528	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00215621312142424	0.096
18	54605759	T	G	18	56938528	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.968539841480913	0.452
18	54605760	G	A	18	56938529	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.22070297304323E-6	0.0
18	54605760	G	C	18	56938529	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.222076759371E-6	0.034
18	54605760	G	T	18	56938529	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.03002990974799E-5	0.044
18	54605761	T	A	18	56938530	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0177976693426061	0.278
18	54605761	T	C	18	56938530	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.34959050155134E-5	0.116
18	54605761	T	G	18	56938530	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.743271642632402	0.606
18	54605762	A	C	18	56938531	y	y	splicing	WDR7(NM_052834:exon23:c.3733-2A>C;NM_015285:exon24:c.3832-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3733-2A>C;ENST00000254442:exon24:c.3832-2A>C;ENST00000586124:exon4:c.422-2A>C;ENST00000591449:exon3:c.112-2A>C)	.	.	0.99993928974862	0.962
18	54605762	A	G	18	56938531	y	y	splicing	WDR7(NM_052834:exon23:c.3733-2A>G;NM_015285:exon24:c.3832-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3733-2A>G;ENST00000254442:exon24:c.3832-2A>G;ENST00000586124:exon4:c.422-2A>G;ENST00000591449:exon3:c.112-2A>G)	.	.	0.99993928974862	0.962
18	54605762	A	T	18	56938531	y	y	splicing	WDR7(NM_052834:exon23:c.3733-2A>T;NM_015285:exon24:c.3832-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3733-2A>T;ENST00000254442:exon24:c.3832-2A>T;ENST00000586124:exon4:c.422-2A>T;ENST00000591449:exon3:c.112-2A>T)	.	.	0.99993872479901	0.958
18	54605763	G	A	18	56938532	y	y	splicing	WDR7(NM_052834:exon23:c.3733-1G>A;NM_015285:exon24:c.3832-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3733-1G>A;ENST00000254442:exon24:c.3832-1G>A;ENST00000586124:exon4:c.422-1G>A;ENST00000591449:exon3:c.112-1G>A)	.	.	0.999950207824055	0.952
18	54605763	G	C	18	56938532	y	y	splicing	WDR7(NM_052834:exon23:c.3733-1G>C;NM_015285:exon24:c.3832-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3733-1G>C;ENST00000254442:exon24:c.3832-1G>C;ENST00000586124:exon4:c.422-1G>C;ENST00000591449:exon3:c.112-1G>C)	.	.	0.999950207824055	0.952
18	54605763	G	T	18	56938532	y	y	splicing	WDR7(NM_052834:exon23:c.3733-1G>T;NM_015285:exon24:c.3832-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3733-1G>T;ENST00000254442:exon24:c.3832-1G>T;ENST00000586124:exon4:c.422-1G>T;ENST00000591449:exon3:c.112-1G>T)	.	.	0.999950207824055	0.952
18	54605764	G	A	18	56938533	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.G3832A:p.V1278I;WDR7:NM_052834:exon23:c.G3733A:p.V1245I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.G3832A:p.V1278I;ENSG00000091157:ENST00000357574:exon23:c.G3733A:p.V1245I;	0.99993619162118	0.952
18	54605764	G	C	18	56938533	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.G3832C:p.V1278L;WDR7:NM_052834:exon23:c.G3733C:p.V1245L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.G3832C:p.V1278L;ENSG00000091157:ENST00000357574:exon23:c.G3733C:p.V1245L;	0.99997913398985	0.97
18	54605764	G	T	18	56938533	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.G3832T:p.V1278L;WDR7:NM_052834:exon23:c.G3733T:p.V1245L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.G3832T:p.V1278L;ENSG00000091157:ENST00000357574:exon23:c.G3733T:p.V1245L;	0.99998475744885	0.994
18	54605765	T	A	18	56938534	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.T3833A:p.V1278E;WDR7:NM_052834:exon23:c.T3734A:p.V1245E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.T3833A:p.V1278E;ENSG00000091157:ENST00000357574:exon23:c.T3734A:p.V1245E;	0.923265806518832	0.512
18	54605765	T	C	18	56938534	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.T3833C:p.V1278A;WDR7:NM_052834:exon23:c.T3734C:p.V1245A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.T3833C:p.V1278A;ENSG00000091157:ENST00000357574:exon23:c.T3734C:p.V1245A;	0.912433705502651	0.544
18	54605765	T	G	18	56938534	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.T3833G:p.V1278G;WDR7:NM_052834:exon23:c.T3734G:p.V1245G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.T3833G:p.V1278G;ENSG00000091157:ENST00000357574:exon23:c.T3734G:p.V1245G;	0.962418975353956	0.554
18	54605911	G	A	18	56938680	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.G3979A:p.E1327K;WDR7:NM_052834:exon23:c.G3880A:p.E1294K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.G3979A:p.E1327K;ENSG00000091157:ENST00000357574:exon23:c.G3880A:p.E1294K;	0.9698242871012	0.842
18	54605911	G	C	18	56938680	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.G3979C:p.E1327Q;WDR7:NM_052834:exon23:c.G3880C:p.E1294Q;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.G3979C:p.E1327Q;ENSG00000091157:ENST00000357574:exon23:c.G3880C:p.E1294Q;	0.97145887165085	0.792
18	54605911	G	T	18	56938680	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon24:c.G3979T:p.E1327X;WDR7:NM_052834:exon23:c.G3880T:p.E1294X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon24:c.G3979T:p.E1327X;ENSG00000091157:ENST00000357574:exon23:c.G3880T:p.E1294X;	0.988335536206018	0.896
18	54605912	A	C	18	56938681	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.A3980C:p.E1327A;WDR7:NM_052834:exon23:c.A3881C:p.E1294A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.A3980C:p.E1327A;ENSG00000091157:ENST00000357574:exon23:c.A3881C:p.E1294A;	0.992315742592704	0.92
18	54605912	A	G	18	56938681	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.A3980G:p.E1327G;WDR7:NM_052834:exon23:c.A3881G:p.E1294G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.A3980G:p.E1327G;ENSG00000091157:ENST00000357574:exon23:c.A3881G:p.E1294G;	0.999698094339356	0.996
18	54605912	A	T	18	56938681	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.A3980T:p.E1327V;WDR7:NM_052834:exon23:c.A3881T:p.E1294V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.A3980T:p.E1327V;ENSG00000091157:ENST00000357574:exon23:c.A3881T:p.E1294V;	0.999042286353852	0.946
18	54605913	G	A	18	56938682	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon24:c.G3981A:p.E1327E;WDR7:NM_052834:exon23:c.G3882A:p.E1294E;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.G3981A:p.E1327E;ENSG00000091157:ENST00000357574:exon23:c.G3882A:p.E1294E;	0.999910774204619	0.964
18	54605913	G	C	18	56938682	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.G3981C:p.E1327D;WDR7:NM_052834:exon23:c.G3882C:p.E1294D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.G3981C:p.E1327D;ENSG00000091157:ENST00000357574:exon23:c.G3882C:p.E1294D;	0.999953789119278	0.926
18	54605913	G	T	18	56938682	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon24:c.G3981T:p.E1327D;WDR7:NM_052834:exon23:c.G3882T:p.E1294D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon24:c.G3981T:p.E1327D;ENSG00000091157:ENST00000357574:exon23:c.G3882T:p.E1294D;	0.999985007705141	0.98
18	54605914	G	A	18	56938683	y	y	splicing	WDR7(NM_052834:exon23:c.3882+1G>A;NM_015285:exon24:c.3981+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3882+1G>A;ENST00000254442:exon24:c.3981+1G>A;ENST00000591449:exon3:c.261+1G>A)	.	.	0.999990361384395	0.938
18	54605914	G	C	18	56938683	y	y	splicing	WDR7(NM_052834:exon23:c.3882+1G>C;NM_015285:exon24:c.3981+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3882+1G>C;ENST00000254442:exon24:c.3981+1G>C;ENST00000591449:exon3:c.261+1G>C)	.	.	0.999990361384395	0.938
18	54605914	G	T	18	56938683	y	y	splicing	WDR7(NM_052834:exon23:c.3882+1G>T;NM_015285:exon24:c.3981+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3882+1G>T;ENST00000254442:exon24:c.3981+1G>T;ENST00000591449:exon3:c.261+1G>T)	.	.	0.999990361384395	0.938
18	54605915	T	A	18	56938684	y	y	splicing	WDR7(NM_052834:exon23:c.3882+2T>A;NM_015285:exon24:c.3981+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3882+2T>A;ENST00000254442:exon24:c.3981+2T>A;ENST00000591449:exon3:c.261+2T>A)	.	.	0.999988247793601	0.932
18	54605915	T	C	18	56938684	y	y	splicing	WDR7(NM_052834:exon23:c.3882+2T>C;NM_015285:exon24:c.3981+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3882+2T>C;ENST00000254442:exon24:c.3981+2T>C;ENST00000591449:exon3:c.261+2T>C)	.	.	0.99340600729494	0.71
18	54605915	T	G	18	56938684	y	y	splicing	WDR7(NM_052834:exon23:c.3882+2T>G;NM_015285:exon24:c.3981+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon23:c.3882+2T>G;ENST00000254442:exon24:c.3981+2T>G;ENST00000591449:exon3:c.261+2T>G)	.	.	0.999988247793601	0.932
18	54605916	A	C	18	56938685	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.996717394935946	0.88
18	54605916	A	G	18	56938685	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0927966288890424	0.488
18	54605916	A	T	18	56938685	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99762328047055	0.904
18	54605917	A	C	18	56938686	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.877569064993728	0.652
18	54605917	A	G	18	56938686	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.911716397210014	0.6
18	54605917	A	T	18	56938686	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.965114656889149	0.708
18	54605918	G	A	18	56938687	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998629705297246	0.682
18	54605918	G	C	18	56938687	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.980899384828477	0.59
18	54605918	G	T	18	56938687	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.995257893124602	0.606
18	54605919	A	C	18	56938688	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.90937818659207E-4	0.016
18	54605919	A	G	18	56938688	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.03998066779981E-5	0.0
18	54605919	A	T	18	56938688	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.91864756915829E-5	0.006
18	54605920	A	C	18	56938689	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.90320920410863E-5	0.0
18	54605920	A	G	18	56938689	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.44782879808027E-4	0.0
18	54605920	A	T	18	56938689	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.44395785192482E-4	0.0
18	54605921	T	A	18	56938690	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.86153779524855E-4	0.006
18	54605921	T	C	18	56938690	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.93752461369013E-4	0.002
18	54605921	T	G	18	56938690	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.55453923326756E-5	0.012
18	54606530	T	A	18	56939299	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.037229950870849	0.18
18	54606530	T	C	18	56939299	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.54830515134999E-4	0.104
18	54606530	T	G	18	56939299	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0184937510577609	0.172
18	54606531	T	A	18	56939300	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0868538671145681	0.372
18	54606531	T	C	18	56939300	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0153539907545219	0.216
18	54606531	T	G	18	56939300	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0159807411282148	0.3
18	54606532	T	A	18	56939301	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00588908753753459	0.284
18	54606532	T	C	18	56939301	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.32746617537645E-4	0.056
18	54606532	T	G	18	56939301	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00374953950866814	0.194
18	54606533	C	A	18	56939302	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00209492728971869	0.18
18	54606533	C	G	18	56939302	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0102917795640326	0.294
18	54606533	C	T	18	56939302	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.09063272509226E-5	0.018
18	54606534	T	A	18	56939303	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999701773594537	0.954
18	54606534	T	C	18	56939303	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.51738929061039E-5	0.0
18	54606534	T	G	18	56939303	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.22994837079875E-4	0.036
18	54606535	G	A	18	56939304	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.34355612144299E-5	0.0
18	54606535	G	C	18	56939304	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.14873541878413E-5	0.0
18	54606535	G	T	18	56939304	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.59256209301117E-5	0.002
18	54606536	T	A	18	56939305	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00324403251334773	0.078
18	54606536	T	C	18	56939305	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.20358599351947E-4	0.072
18	54606536	T	G	18	56939305	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0161584963341283	0.108
18	54606537	C	A	18	56939306	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00324827670435041	0.084
18	54606537	C	G	18	56939306	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00324827670435041	0.11
18	54606537	C	T	18	56939306	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.50379652360767E-4	0.004
18	54606538	A	C	18	56939307	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.13260081522757E-4	0.016
18	54606538	A	G	18	56939307	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.75878450175088E-4	0.022
18	54606538	A	T	18	56939307	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.62922506727098E-4	0.016
18	54606539	A	C	18	56939308	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.02931603562903E-4	0.056
18	54606539	A	G	18	56939308	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.437109515596543	0.444
18	54606539	A	T	18	56939308	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.23031127475169E-4	0.024
18	54606540	A	C	18	56939309	y	y	splicing	WDR7(NM_052834:exon24:c.3883-2A>C;NM_015285:exon25:c.3982-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3883-2A>C;ENST00000254442:exon25:c.3982-2A>C;ENST00000591449:exon4:c.262-2A>C)	.	.	0.999992752818502	0.928
18	54606540	A	G	18	56939309	y	y	splicing	WDR7(NM_052834:exon24:c.3883-2A>G;NM_015285:exon25:c.3982-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3883-2A>G;ENST00000254442:exon25:c.3982-2A>G;ENST00000591449:exon4:c.262-2A>G)	.	.	0.999992752818502	0.928
18	54606540	A	T	18	56939309	y	y	splicing	WDR7(NM_052834:exon24:c.3883-2A>T;NM_015285:exon25:c.3982-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3883-2A>T;ENST00000254442:exon25:c.3982-2A>T;ENST00000591449:exon4:c.262-2A>T)	.	.	0.999992752818502	0.928
18	54606541	G	A	18	56939310	y	y	splicing	WDR7(NM_052834:exon24:c.3883-1G>A;NM_015285:exon25:c.3982-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3883-1G>A;ENST00000254442:exon25:c.3982-1G>A;ENST00000591449:exon4:c.262-1G>A)	.	.	0.999981760802075	0.938
18	54606541	G	C	18	56939310	y	y	splicing	WDR7(NM_052834:exon24:c.3883-1G>C;NM_015285:exon25:c.3982-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3883-1G>C;ENST00000254442:exon25:c.3982-1G>C;ENST00000591449:exon4:c.262-1G>C)	.	.	0.999981760802075	0.938
18	54606541	G	T	18	56939310	y	y	splicing	WDR7(NM_052834:exon24:c.3883-1G>T;NM_015285:exon25:c.3982-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3883-1G>T;ENST00000254442:exon25:c.3982-1G>T;ENST00000591449:exon4:c.262-1G>T)	.	.	0.999981760802075	0.938
18	54606542	G	A	18	56939311	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.G3982A:p.V1328I;WDR7:NM_052834:exon24:c.G3883A:p.V1295I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.G3982A:p.V1328I;ENSG00000091157:ENST00000357574:exon24:c.G3883A:p.V1295I;	0.998204804006984	0.954
18	54606542	G	C	18	56939311	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.G3982C:p.V1328L;WDR7:NM_052834:exon24:c.G3883C:p.V1295L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.G3982C:p.V1328L;ENSG00000091157:ENST00000357574:exon24:c.G3883C:p.V1295L;	0.999531749568946	0.976
18	54606542	G	T	18	56939311	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.G3982T:p.V1328F;WDR7:NM_052834:exon24:c.G3883T:p.V1295F;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.G3982T:p.V1328F;ENSG00000091157:ENST00000357574:exon24:c.G3883T:p.V1295F;	0.999712086388885	0.99
18	54606543	T	A	18	56939312	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.T3983A:p.V1328D;WDR7:NM_052834:exon24:c.T3884A:p.V1295D;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.T3983A:p.V1328D;ENSG00000091157:ENST00000357574:exon24:c.T3884A:p.V1295D;	0.223855647214346	0.404
18	54606543	T	C	18	56939312	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.T3983C:p.V1328A;WDR7:NM_052834:exon24:c.T3884C:p.V1295A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.T3983C:p.V1328A;ENSG00000091157:ENST00000357574:exon24:c.T3884C:p.V1295A;	0.148556106040739	0.514
18	54606543	T	G	18	56939312	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.T3983G:p.V1328G;WDR7:NM_052834:exon24:c.T3884G:p.V1295G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.T3983G:p.V1328G;ENSG00000091157:ENST00000357574:exon24:c.T3884G:p.V1295G;	0.133530150965781	0.462
18	54606622	C	A	18	56939391	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon25:c.C4062A:p.C1354X;WDR7:NM_052834:exon24:c.C3963A:p.C1321X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon25:c.C4062A:p.C1354X;ENSG00000091157:ENST00000357574:exon24:c.C3963A:p.C1321X;	0.857451741292185	0.804
18	54606622	C	G	18	56939391	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.C4062G:p.C1354W;WDR7:NM_052834:exon24:c.C3963G:p.C1321W;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.C4062G:p.C1354W;ENSG00000091157:ENST00000357574:exon24:c.C3963G:p.C1321W;	0.864518780911857	0.606
18	54606622	C	T	18	56939391	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon25:c.C4062T:p.C1354C;WDR7:NM_052834:exon24:c.C3963T:p.C1321C;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.C4062T:p.C1354C;ENSG00000091157:ENST00000357574:exon24:c.C3963T:p.C1321C;	0.97798188609109	0.838
18	54606623	A	C	18	56939392	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon25:c.A4063C:p.R1355R;WDR7:NM_052834:exon24:c.A3964C:p.R1322R;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.A4063C:p.R1355R;ENSG00000091157:ENST00000357574:exon24:c.A3964C:p.R1322R;	0.995010855068451	0.932
18	54606623	A	G	18	56939392	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.A4063G:p.R1355G;WDR7:NM_052834:exon24:c.A3964G:p.R1322G;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.A4063G:p.R1355G;ENSG00000091157:ENST00000357574:exon24:c.A3964G:p.R1322G;	0.999888959396621	0.996
18	54606623	A	T	18	56939392	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.A4063T:p.R1355W;WDR7:NM_052834:exon24:c.A3964T:p.R1322W;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.A4063T:p.R1355W;ENSG00000091157:ENST00000357574:exon24:c.A3964T:p.R1322W;	0.999882337269677	0.994
18	54606624	G	A	18	56939393	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.G4064A:p.R1355K;WDR7:NM_052834:exon24:c.G3965A:p.R1322K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.G4064A:p.R1355K;ENSG00000091157:ENST00000357574:exon24:c.G3965A:p.R1322K;	0.999878605905615	0.986
18	54606624	G	C	18	56939393	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.G4064C:p.R1355T;WDR7:NM_052834:exon24:c.G3965C:p.R1322T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.G4064C:p.R1355T;ENSG00000091157:ENST00000357574:exon24:c.G3965C:p.R1322T;	0.999995833460323	1.0
18	54606624	G	T	18	56939393	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon25:c.G4064T:p.R1355M;WDR7:NM_052834:exon24:c.G3965T:p.R1322M;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon25:c.G4064T:p.R1355M;ENSG00000091157:ENST00000357574:exon24:c.G3965T:p.R1322M;	0.999982477787124	0.992
18	54606625	G	A	18	56939394	y	y	splicing	WDR7(NM_052834:exon24:c.3965+1G>A;NM_015285:exon25:c.4064+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3965+1G>A;ENST00000254442:exon25:c.4064+1G>A;ENST00000591449:exon4:c.344+1G>A)	.	.	0.999981760802075	0.938
18	54606625	G	C	18	56939394	y	y	splicing	WDR7(NM_052834:exon24:c.3965+1G>C;NM_015285:exon25:c.4064+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3965+1G>C;ENST00000254442:exon25:c.4064+1G>C;ENST00000591449:exon4:c.344+1G>C)	.	.	0.999981760802075	0.938
18	54606625	G	T	18	56939394	y	y	splicing	WDR7(NM_052834:exon24:c.3965+1G>T;NM_015285:exon25:c.4064+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3965+1G>T;ENST00000254442:exon25:c.4064+1G>T;ENST00000591449:exon4:c.344+1G>T)	.	.	0.999981760802075	0.938
18	54606626	T	A	18	56939395	y	y	splicing	WDR7(NM_052834:exon24:c.3965+2T>A;NM_015285:exon25:c.4064+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3965+2T>A;ENST00000254442:exon25:c.4064+2T>A;ENST00000591449:exon4:c.344+2T>A)	.	.	0.999992752818502	0.928
18	54606626	T	C	18	56939395	y	y	splicing	WDR7(NM_052834:exon24:c.3965+2T>C;NM_015285:exon25:c.4064+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3965+2T>C;ENST00000254442:exon25:c.4064+2T>C;ENST00000591449:exon4:c.344+2T>C)	.	.	0.992019297660769	0.642
18	54606626	T	G	18	56939395	y	y	splicing	WDR7(NM_052834:exon24:c.3965+2T>G;NM_015285:exon25:c.4064+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon24:c.3965+2T>G;ENST00000254442:exon25:c.4064+2T>G;ENST00000591449:exon4:c.344+2T>G)	.	.	0.999992752818502	0.928
18	54606627	A	C	18	56939396	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999966603310866	0.932
18	54606627	A	G	18	56939396	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.975951508532992	0.822
18	54606627	A	T	18	56939396	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999881310895973	0.968
18	54606628	A	C	18	56939397	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.959319054265095	0.648
18	54606628	A	G	18	56939397	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.935854368128455	0.75
18	54606628	A	T	18	56939397	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.968160073462578	0.67
18	54606629	A	C	18	56939398	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.45441177811254E-5	0.036
18	54606629	A	G	18	56939398	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.03011721273794E-5	0.008
18	54606629	A	T	18	56939398	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.83979148710587E-4	0.016
18	54606630	G	A	18	56939399	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.38828850385016E-4	0.012
18	54606630	G	C	18	56939399	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.59236691617235E-4	0.044
18	54606630	G	T	18	56939399	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.02708278037341E-4	0.004
18	54606631	A	C	18	56939400	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.67679913559519E-4	0.002
18	54606631	A	G	18	56939400	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.99464487797852E-4	0.002
18	54606631	A	T	18	56939400	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00153508048447898	0.006
18	54606632	A	C	18	56939401	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.99263190704948E-5	0.0
18	54606632	A	G	18	56939401	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.83208060894993E-5	0.0
18	54606632	A	T	18	56939401	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.67917495862859E-5	0.0
18	54629649	T	A	18	56962418	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999971451737847	0.966
18	54629649	T	C	18	56962418	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.719763453822666	0.5
18	54629649	T	G	18	56962418	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999954089178189	0.966
18	54629650	G	A	18	56962419	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.987457645328229	0.768
18	54629650	G	C	18	56962419	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.952312701328778	0.796
18	54629650	G	T	18	56962419	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.957269720259171	0.756
18	54629651	T	A	18	56962420	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.941105658765506	0.644
18	54629651	T	C	18	56962420	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00460972755970789	0.254
18	54629651	T	G	18	56962420	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.938689198676399	0.676
18	54629652	T	A	18	56962421	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.956965504504783	0.688
18	54629652	T	C	18	56962421	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.14435423015677E-4	0.114
18	54629652	T	G	18	56962421	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.851551160342488	0.666
18	54629653	C	A	18	56962422	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.75846334179643	0.486
18	54629653	C	G	18	56962422	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.623407637932568	0.4
18	54629653	C	T	18	56962422	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00170052020869906	0.06
18	54629654	A	C	18	56962423	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.5980549814325E-5	0.0
18	54629654	A	G	18	56962423	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.33144206219601E-5	0.02
18	54629654	A	T	18	56962423	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.90089911284563E-5	0.012
18	54629655	A	C	18	56962424	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.26121570608074E-4	0.024
18	54629655	A	G	18	56962424	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998919841388182	0.954
18	54629655	A	T	18	56962424	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.71454065531494E-4	0.014
18	54629656	C	A	18	56962425	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.27881649467275E-4	0.148
18	54629656	C	G	18	56962425	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999586885073002	0.976
18	54629656	C	T	18	56962425	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.21950120849846E-5	0.074
18	54629657	T	A	18	56962426	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.25475068006183E-4	0.082
18	54629657	T	C	18	56962426	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.7297665464223E-4	0.034
18	54629657	T	G	18	56962426	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.01576324088175E-4	0.066
18	54629658	C	A	18	56962427	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999722666007512	0.928
18	54629658	C	G	18	56962427	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999950182767046	0.954
18	54629658	C	T	18	56962427	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.886383983823953	0.388
18	54629659	A	C	18	56962428	y	y	splicing	WDR7(NM_052834:exon25:c.3966-2A>C;NM_015285:exon26:c.4065-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.3966-2A>C;ENST00000254442:exon26:c.4065-2A>C;ENST00000591449:exon5:c.345-2A>C)	.	.	0.999979394981131	0.924
18	54629659	A	G	18	56962428	y	y	splicing	WDR7(NM_052834:exon25:c.3966-2A>G;NM_015285:exon26:c.4065-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.3966-2A>G;ENST00000254442:exon26:c.4065-2A>G;ENST00000591449:exon5:c.345-2A>G)	.	.	0.999979394981131	0.924
18	54629659	A	T	18	56962428	y	y	splicing	WDR7(NM_052834:exon25:c.3966-2A>T;NM_015285:exon26:c.4065-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.3966-2A>T;ENST00000254442:exon26:c.4065-2A>T;ENST00000591449:exon5:c.345-2A>T)	.	.	0.999979394981131	0.924
18	54629660	G	A	18	56962429	y	y	splicing	WDR7(NM_052834:exon25:c.3966-1G>A;NM_015285:exon26:c.4065-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.3966-1G>A;ENST00000254442:exon26:c.4065-1G>A;ENST00000591449:exon5:c.345-1G>A)	.	.	0.999974634749143	0.92
18	54629660	G	C	18	56962429	y	y	splicing	WDR7(NM_052834:exon25:c.3966-1G>C;NM_015285:exon26:c.4065-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.3966-1G>C;ENST00000254442:exon26:c.4065-1G>C;ENST00000591449:exon5:c.345-1G>C)	.	.	0.999974634749143	0.92
18	54629660	G	T	18	56962429	y	y	splicing	WDR7(NM_052834:exon25:c.3966-1G>T;NM_015285:exon26:c.4065-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.3966-1G>T;ENST00000254442:exon26:c.4065-1G>T;ENST00000591449:exon5:c.345-1G>T)	.	.	0.999974634749143	0.92
18	54629661	G	A	18	56962430	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon26:c.G4065A:p.R1355R;WDR7:NM_052834:exon25:c.G3966A:p.R1322R;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.G4065A:p.R1355R;ENSG00000091157:ENST00000357574:exon25:c.G3966A:p.R1322R;	0.998678497165559	0.82
18	54629661	G	C	18	56962430	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.G4065C:p.R1355S;WDR7:NM_052834:exon25:c.G3966C:p.R1322S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.G4065C:p.R1355S;ENSG00000091157:ENST00000357574:exon25:c.G3966C:p.R1322S;	0.999730652429625	0.944
18	54629661	G	T	18	56962430	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.G4065T:p.R1355S;WDR7:NM_052834:exon25:c.G3966T:p.R1322S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.G4065T:p.R1355S;ENSG00000091157:ENST00000357574:exon25:c.G3966T:p.R1322S;	0.999792692884639	0.988
18	54629662	T	A	18	56962431	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.T4066A:p.F1356I;WDR7:NM_052834:exon25:c.T3967A:p.F1323I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.T4066A:p.F1356I;ENSG00000091157:ENST00000357574:exon25:c.T3967A:p.F1323I;	0.613494566095726	0.494
18	54629662	T	C	18	56962431	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.T4066C:p.F1356L;WDR7:NM_052834:exon25:c.T3967C:p.F1323L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.T4066C:p.F1356L;ENSG00000091157:ENST00000357574:exon25:c.T3967C:p.F1323L;	0.716364921684875	0.53
18	54629662	T	G	18	56962431	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.T4066G:p.F1356V;WDR7:NM_052834:exon25:c.T3967G:p.F1323V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.T4066G:p.F1356V;ENSG00000091157:ENST00000357574:exon25:c.T3967G:p.F1323V;	0.5744241614251	0.458
18	54629758	C	A	18	56962527	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.C4162A:p.Q1388K;WDR7:NM_052834:exon25:c.C4063A:p.Q1355K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.C4162A:p.Q1388K;ENSG00000091157:ENST00000357574:exon25:c.C4063A:p.Q1355K;	0.950434337910873	0.808
18	54629758	C	G	18	56962527	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.C4162G:p.Q1388E;WDR7:NM_052834:exon25:c.C4063G:p.Q1355E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.C4162G:p.Q1388E;ENSG00000091157:ENST00000357574:exon25:c.C4063G:p.Q1355E;	0.914555564377091	0.614
18	54629758	C	T	18	56962527	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon26:c.C4162T:p.Q1388X;WDR7:NM_052834:exon25:c.C4063T:p.Q1355X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon26:c.C4162T:p.Q1388X;ENSG00000091157:ENST00000357574:exon25:c.C4063T:p.Q1355X;	0.998140448556321	0.892
18	54629759	A	C	18	56962528	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.A4163C:p.Q1388P;WDR7:NM_052834:exon25:c.A4064C:p.Q1355P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.A4163C:p.Q1388P;ENSG00000091157:ENST00000357574:exon25:c.A4064C:p.Q1355P;	0.998405001566968	0.952
18	54629759	A	G	18	56962528	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.A4163G:p.Q1388R;WDR7:NM_052834:exon25:c.A4064G:p.Q1355R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.A4163G:p.Q1388R;ENSG00000091157:ENST00000357574:exon25:c.A4064G:p.Q1355R;	0.998963573597284	0.95
18	54629759	A	T	18	56962528	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.A4163T:p.Q1388L;WDR7:NM_052834:exon25:c.A4064T:p.Q1355L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.A4163T:p.Q1388L;ENSG00000091157:ENST00000357574:exon25:c.A4064T:p.Q1355L;	0.99978000571074	0.996
18	54629760	G	A	18	56962529	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon26:c.G4164A:p.Q1388Q;WDR7:NM_052834:exon25:c.G4065A:p.Q1355Q;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.G4164A:p.Q1388Q;ENSG00000091157:ENST00000357574:exon25:c.G4065A:p.Q1355Q;	0.999926917180436	0.922
18	54629760	G	C	18	56962529	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.G4164C:p.Q1388H;WDR7:NM_052834:exon25:c.G4065C:p.Q1355H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.G4164C:p.Q1388H;ENSG00000091157:ENST00000357574:exon25:c.G4065C:p.Q1355H;	0.999998347458604	0.996
18	54629760	G	T	18	56962529	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon26:c.G4164T:p.Q1388H;WDR7:NM_052834:exon25:c.G4065T:p.Q1355H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon26:c.G4164T:p.Q1388H;ENSG00000091157:ENST00000357574:exon25:c.G4065T:p.Q1355H;	0.999968493120623	0.99
18	54629761	G	A	18	56962530	y	y	splicing	WDR7(NM_052834:exon25:c.4065+1G>A;NM_015285:exon26:c.4164+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.4065+1G>A;ENST00000254442:exon26:c.4164+1G>A;ENST00000591449:exon5:c.444+1G>A;ENST00000585669:exon1:c.95+1G>A)	.	.	0.999985532734767	0.936
18	54629761	G	C	18	56962530	y	y	splicing	WDR7(NM_052834:exon25:c.4065+1G>C;NM_015285:exon26:c.4164+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.4065+1G>C;ENST00000254442:exon26:c.4164+1G>C;ENST00000591449:exon5:c.444+1G>C;ENST00000585669:exon1:c.95+1G>C)	.	.	0.999985532734767	0.936
18	54629761	G	T	18	56962530	y	y	splicing	WDR7(NM_052834:exon25:c.4065+1G>T;NM_015285:exon26:c.4164+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.4065+1G>T;ENST00000254442:exon26:c.4164+1G>T;ENST00000591449:exon5:c.444+1G>T;ENST00000585669:exon1:c.95+1G>T)	.	.	0.999985532734767	0.936
18	54629762	T	A	18	56962531	y	y	splicing	WDR7(NM_052834:exon25:c.4065+2T>A;NM_015285:exon26:c.4164+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.4065+2T>A;ENST00000254442:exon26:c.4164+2T>A;ENST00000591449:exon5:c.444+2T>A;ENST00000585669:exon1:c.95+2T>A)	.	.	0.999988247793601	0.928
18	54629762	T	C	18	56962531	y	y	splicing	WDR7(NM_052834:exon25:c.4065+2T>C;NM_015285:exon26:c.4164+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.4065+2T>C;ENST00000254442:exon26:c.4164+2T>C;ENST00000591449:exon5:c.444+2T>C;ENST00000585669:exon1:c.95+2T>C)	.	.	0.99340600729494	0.668
18	54629762	T	G	18	56962531	y	y	splicing	WDR7(NM_052834:exon25:c.4065+2T>G;NM_015285:exon26:c.4164+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon25:c.4065+2T>G;ENST00000254442:exon26:c.4164+2T>G;ENST00000591449:exon5:c.444+2T>G;ENST00000585669:exon1:c.95+2T>G)	.	.	0.999988247793601	0.928
18	54629763	A	C	18	56962532	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999473111542572	0.886
18	54629763	A	G	18	56962532	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.986743699932038	0.762
18	54629763	A	T	18	56962532	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999431934026065	0.852
18	54629764	A	C	18	56962533	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997665749738086	0.872
18	54629764	A	G	18	56962533	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.995467959346216	0.81
18	54629764	A	T	18	56962533	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997229125980701	0.854
18	54629765	A	C	18	56962534	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0515568419369951	0.39
18	54629765	A	G	18	56962534	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00315667840566988	0.144
18	54629765	A	T	18	56962534	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0872467062411296	0.428
18	54629766	T	A	18	56962535	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.878141238651535	0.476
18	54629766	T	C	18	56962535	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.886644711784031	0.598
18	54629766	T	G	18	56962535	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.829863002874426	0.446
18	54629767	A	C	18	56962536	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.95350677510464E-4	0.006
18	54629767	A	G	18	56962536	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	4.29759578588276E-4	0.0
18	54629767	A	T	18	56962536	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.7049126690441E-4	0.01
18	54629768	A	C	18	56962537	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0959984836103682	0.282
18	54629768	A	G	18	56962537	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0826631470621472	0.22
18	54629768	A	T	18	56962537	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0980333975144165	0.392
18	54677057	T	A	18	57009826	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00420152366046542	0.034
18	54677057	T	C	18	57009826	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00349211905709787	0.032
18	54677057	T	G	18	57009826	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00349211905709787	0.034
18	54677058	T	A	18	57009827	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00420152366046542	0.034
18	54677058	T	C	18	57009827	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00420152366046542	0.034
18	54677058	T	G	18	57009827	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00420152366046542	0.034
18	54677059	G	A	18	57009828	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.04353650666994E-4	0.004
18	54677059	G	C	18	57009828	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.62013428522357E-4	0.004
18	54677059	G	T	18	57009828	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.04353650666994E-4	0.022
18	54677060	T	A	18	57009829	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.91408875405699E-4	0.0
18	54677060	T	C	18	57009829	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.57835689468231E-4	0.0
18	54677060	T	G	18	57009829	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.43190807654434E-4	0.0
18	54677061	G	A	18	57009830	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.41231753311375E-4	0.002
18	54677061	G	C	18	57009830	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.44890220172881E-4	0.002
18	54677061	G	T	18	57009830	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.11968350887203E-4	0.002
18	54677062	T	A	18	57009831	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.46489909464918E-4	0.028
18	54677062	T	C	18	57009831	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.45458639935903E-4	0.028
18	54677062	T	G	18	57009831	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.45458639935903E-4	0.028
18	54677063	C	A	18	57009832	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0102637097925253	0.028
18	54677063	C	G	18	57009832	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0102637097925253	0.022
18	54677063	C	T	18	57009832	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0102637097925253	0.034
18	54677064	A	C	18	57009833	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00234954535167801	0.054
18	54677064	A	G	18	57009833	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00234954535167801	0.056
18	54677064	A	T	18	57009833	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00349211905709787	0.032
18	54677065	C	A	18	57009834	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.74319619177971E-5	0.0
18	54677065	C	G	18	57009834	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.0174405123738E-5	0.002
18	54677065	C	T	18	57009834	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	2.74319619177971E-5	0.0
18	54677066	C	A	18	57009835	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.02337758398172E-4	0.0
18	54677066	C	G	18	57009835	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.02337758398172E-4	0.0
18	54677066	C	T	18	57009835	n	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.02337758398172E-4	0.0
18	54677067	A	C	18	57009836	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000585669:exon2:c.96-2A>C)	.	.	5.25211152755068E-5	0.0
18	54677067	A	G	18	57009836	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000585669:exon2:c.96-2A>G)	.	.	5.25211152755068E-5	0.0
18	54677067	A	T	18	57009836	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000585669:exon2:c.96-2A>T)	.	.	5.25211152755068E-5	0.0
18	54677068	G	A	18	57009837	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000585669:exon2:c.96-1G>A)	.	.	4.39331619859259E-4	0.022
18	54677068	G	C	18	57009837	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000585669:exon2:c.96-1G>C)	.	.	3.23670744562471E-4	0.022
18	54677068	G	T	18	57009837	n	y	intronic	WDR7	.	.	splicing	ENSG00000091157(ENST00000585669:exon2:c.96-1G>T)	.	.	5.48902380108014E-4	0.024
18	54677069	G	A	18	57009838	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	3.69930370103191E-5	0.0
18	54677069	G	C	18	57009838	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	3.69930370103191E-5	0.0
18	54677069	G	T	18	57009838	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	3.69930370103191E-5	0.0
18	54677070	C	A	18	57009839	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	5.15941453541388E-5	0.014
18	54677070	C	G	18	57009839	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	6.89925739660516E-5	0.006
18	54677070	C	T	18	57009839	n	y	intronic	WDR7	.	.	exonic	ENSG00000091157	unknown	UNKNOWN	5.15941453541388E-5	0.002
18	54687964	A	C	18	57020733	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	5.60699315319317E-5	0.006
18	54687964	A	G	18	57020733	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999182635633016	0.986
18	54687964	A	T	18	57020733	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.81412304421815E-5	0.024
18	54687965	T	A	18	57020734	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.943212322156742	0.738
18	54687965	T	C	18	57020734	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.030999114821414	0.316
18	54687965	T	G	18	57020734	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999942937076382	0.97
18	54687966	T	A	18	57020735	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997001798994546	0.898
18	54687966	T	C	18	57020735	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.72665936299556	0.458
18	54687966	T	G	18	57020735	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.997320717048873	0.912
18	54687967	T	A	18	57020736	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.294422858623909	0.458
18	54687967	T	C	18	57020736	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00101264411169913	0.082
18	54687967	T	G	18	57020736	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.042348478476178	0.434
18	54687968	T	A	18	57020737	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0188664692025395	0.224
18	54687968	T	C	18	57020737	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.84802915056136E-4	0.004
18	54687968	T	G	18	57020737	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0245757626123426	0.368
18	54687969	A	C	18	57020738	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.71410653896785E-5	0.0
18	54687969	A	G	18	57020738	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.58567519183772E-5	0.0
18	54687969	A	T	18	57020738	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.6191968782569E-5	0.0
18	54687970	T	A	18	57020739	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.988258342078405	0.642
18	54687970	T	C	18	57020739	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00839720809906153	0.188
18	54687970	T	G	18	57020739	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99996925746619	0.94
18	54687971	T	A	18	57020740	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.999600089374859	0.768
18	54687971	T	C	18	57020740	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.53270385676682	0.364
18	54687971	T	G	18	57020740	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998301128591338	0.748
18	54687972	T	A	18	57020741	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00203250106270335	0.068
18	54687972	T	C	18	57020741	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.97947225526394E-4	0.128
18	54687972	T	G	18	57020741	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00396854719284938	0.154
18	54687973	T	A	18	57020742	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.041784361719492	0.326
18	54687973	T	C	18	57020742	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.89849600245311E-5	0.0
18	54687973	T	G	18	57020742	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.926361716119244	0.65
18	54687974	A	C	18	57020743	y	y	splicing	WDR7(NM_052834:exon26:c.4066-2A>C;NM_015285:exon27:c.4165-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4066-2A>C;ENST00000254442:exon27:c.4165-2A>C;ENST00000591449:exon6:c.445-2A>C)	.	.	0.999988247793601	0.904
18	54687974	A	G	18	57020743	y	y	splicing	WDR7(NM_052834:exon26:c.4066-2A>G;NM_015285:exon27:c.4165-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4066-2A>G;ENST00000254442:exon27:c.4165-2A>G;ENST00000591449:exon6:c.445-2A>G)	.	.	0.999988247793601	0.904
18	54687974	A	T	18	57020743	y	y	splicing	WDR7(NM_052834:exon26:c.4066-2A>T;NM_015285:exon27:c.4165-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4066-2A>T;ENST00000254442:exon27:c.4165-2A>T;ENST00000591449:exon6:c.445-2A>T)	.	.	0.999988247793601	0.904
18	54687975	G	A	18	57020744	y	y	splicing	WDR7(NM_052834:exon26:c.4066-1G>A;NM_015285:exon27:c.4165-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4066-1G>A;ENST00000254442:exon27:c.4165-1G>A;ENST00000591449:exon6:c.445-1G>A)	.	.	0.999990361384395	0.916
18	54687975	G	C	18	57020744	y	y	splicing	WDR7(NM_052834:exon26:c.4066-1G>C;NM_015285:exon27:c.4165-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4066-1G>C;ENST00000254442:exon27:c.4165-1G>C;ENST00000591449:exon6:c.445-1G>C)	.	.	0.999990361384395	0.916
18	54687975	G	T	18	57020744	y	y	splicing	WDR7(NM_052834:exon26:c.4066-1G>T;NM_015285:exon27:c.4165-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4066-1G>T;ENST00000254442:exon27:c.4165-1G>T;ENST00000591449:exon6:c.445-1G>T)	.	.	0.999990361384395	0.916
18	54687976	A	C	18	57020745	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.A4165C:p.T1389P;WDR7:NM_052834:exon26:c.A4066C:p.T1356P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.A4165C:p.T1389P;ENSG00000091157:ENST00000357574:exon26:c.A4066C:p.T1356P;	0.963507961690966	0.66
18	54687976	A	G	18	57020745	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.A4165G:p.T1389A;WDR7:NM_052834:exon26:c.A4066G:p.T1356A;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.A4165G:p.T1389A;ENSG00000091157:ENST00000357574:exon26:c.A4066G:p.T1356A;	0.40183665330406	0.394
18	54687976	A	T	18	57020745	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.A4165T:p.T1389S;WDR7:NM_052834:exon26:c.A4066T:p.T1356S;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.A4165T:p.T1389S;ENSG00000091157:ENST00000357574:exon26:c.A4066T:p.T1356S;	0.0816962119563471	0.272
18	54687977	C	A	18	57020746	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.C4166A:p.T1389K;WDR7:NM_052834:exon26:c.C4067A:p.T1356K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.C4166A:p.T1389K;ENSG00000091157:ENST00000357574:exon26:c.C4067A:p.T1356K;	0.994402886011726	0.716
18	54687977	C	G	18	57020746	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.C4166G:p.T1389R;WDR7:NM_052834:exon26:c.C4067G:p.T1356R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.C4166G:p.T1389R;ENSG00000091157:ENST00000357574:exon26:c.C4067G:p.T1356R;	0.95082632906313	0.694
18	54687977	C	T	18	57020746	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.C4166T:p.T1389I;WDR7:NM_052834:exon26:c.C4067T:p.T1356I;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.C4166T:p.T1389I;ENSG00000091157:ENST00000357574:exon26:c.C4067T:p.T1356I;	0.639437146287636	0.592
18	54688078	C	A	18	57020847	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.C4267A:p.Q1423K;WDR7:NM_052834:exon26:c.C4168A:p.Q1390K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.C4267A:p.Q1423K;ENSG00000091157:ENST00000357574:exon26:c.C4168A:p.Q1390K;	0.940414222669096	0.852
18	54688078	C	G	18	57020847	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.C4267G:p.Q1423E;WDR7:NM_052834:exon26:c.C4168G:p.Q1390E;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.C4267G:p.Q1423E;ENSG00000091157:ENST00000357574:exon26:c.C4168G:p.Q1390E;	0.950345901296769	0.678
18	54688078	C	T	18	57020847	y	y	exonic	WDR7	stopgain SNV	WDR7:NM_015285:exon27:c.C4267T:p.Q1423X;WDR7:NM_052834:exon26:c.C4168T:p.Q1390X;	exonic	ENSG00000091157	stopgain SNV	ENSG00000091157:ENST00000254442:exon27:c.C4267T:p.Q1423X;ENSG00000091157:ENST00000357574:exon26:c.C4168T:p.Q1390X;	0.999294715302711	0.856
18	54688079	A	C	18	57020848	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.A4268C:p.Q1423P;WDR7:NM_052834:exon26:c.A4169C:p.Q1390P;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.A4268C:p.Q1423P;ENSG00000091157:ENST00000357574:exon26:c.A4169C:p.Q1390P;	0.99229308159259	0.784
18	54688079	A	G	18	57020848	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.A4268G:p.Q1423R;WDR7:NM_052834:exon26:c.A4169G:p.Q1390R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.A4268G:p.Q1423R;ENSG00000091157:ENST00000357574:exon26:c.A4169G:p.Q1390R;	0.996918489764891	0.946
18	54688079	A	T	18	57020848	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.A4268T:p.Q1423L;WDR7:NM_052834:exon26:c.A4169T:p.Q1390L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.A4268T:p.Q1423L;ENSG00000091157:ENST00000357574:exon26:c.A4169T:p.Q1390L;	0.997677465043368	0.808
18	54688080	G	A	18	57020849	y	y	exonic	WDR7	synonymous SNV	WDR7:NM_015285:exon27:c.G4269A:p.Q1423Q;WDR7:NM_052834:exon26:c.G4170A:p.Q1390Q;	exonic	ENSG00000091157	synonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.G4269A:p.Q1423Q;ENSG00000091157:ENST00000357574:exon26:c.G4170A:p.Q1390Q;	0.999945665542734	0.976
18	54688080	G	C	18	57020849	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.G4269C:p.Q1423H;WDR7:NM_052834:exon26:c.G4170C:p.Q1390H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.G4269C:p.Q1423H;ENSG00000091157:ENST00000357574:exon26:c.G4170C:p.Q1390H;	0.999986429048705	0.962
18	54688080	G	T	18	57020849	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon27:c.G4269T:p.Q1423H;WDR7:NM_052834:exon26:c.G4170T:p.Q1390H;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon27:c.G4269T:p.Q1423H;ENSG00000091157:ENST00000357574:exon26:c.G4170T:p.Q1390H;	0.99997999008025	0.984
18	54688081	G	A	18	57020850	y	y	splicing	WDR7(NM_052834:exon26:c.4170+1G>A;NM_015285:exon27:c.4269+1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4170+1G>A;ENST00000254442:exon27:c.4269+1G>A)	.	.	0.999990361384395	0.938
18	54688081	G	C	18	57020850	y	y	splicing	WDR7(NM_052834:exon26:c.4170+1G>C;NM_015285:exon27:c.4269+1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4170+1G>C;ENST00000254442:exon27:c.4269+1G>C)	.	.	0.999990361384395	0.938
18	54688081	G	T	18	57020850	y	y	splicing	WDR7(NM_052834:exon26:c.4170+1G>T;NM_015285:exon27:c.4269+1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4170+1G>T;ENST00000254442:exon27:c.4269+1G>T)	.	.	0.999990361384395	0.938
18	54688082	T	A	18	57020851	y	y	splicing	WDR7(NM_052834:exon26:c.4170+2T>A;NM_015285:exon27:c.4269+2T>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4170+2T>A;ENST00000254442:exon27:c.4269+2T>A)	.	.	0.999988247793601	0.93
18	54688082	T	C	18	57020851	y	y	splicing	WDR7(NM_052834:exon26:c.4170+2T>C;NM_015285:exon27:c.4269+2T>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4170+2T>C;ENST00000254442:exon27:c.4269+2T>C)	.	.	0.995320650369382	0.706
18	54688082	T	G	18	57020851	y	y	splicing	WDR7(NM_052834:exon26:c.4170+2T>G;NM_015285:exon27:c.4269+2T>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon26:c.4170+2T>G;ENST00000254442:exon27:c.4269+2T>G)	.	.	0.999988247793601	0.93
18	54688083	A	C	18	57020852	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.993110150192061	0.822
18	54688083	A	G	18	57020852	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.301573872677693	0.324
18	54688083	A	T	18	57020852	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99640969286078	0.922
18	54688084	A	C	18	57020853	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.115506377767621	0.222
18	54688084	A	G	18	57020853	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.408431457280717	0.318
18	54688084	A	T	18	57020853	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.309492661364441	0.206
18	54688085	G	A	18	57020854	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.991300839574741	0.756
18	54688085	G	C	18	57020854	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.96031904179608	0.682
18	54688085	G	T	18	57020854	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.98432610122086	0.638
18	54688086	A	C	18	57020855	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.16744001262885E-5	0.02
18	54688086	A	G	18	57020855	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.98401179448283E-5	0.002
18	54688086	A	T	18	57020855	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.8745316160283E-5	0.006
18	54688087	G	A	18	57020856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.34456807212045E-5	0.0
18	54688087	G	C	18	57020856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	3.49072551373861E-5	0.0
18	54688087	G	T	18	57020856	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	9.3499302971491E-5	0.0
18	54688088	T	A	18	57020857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.06341561599038E-6	0.0
18	54688088	T	C	18	57020857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.06341561599038E-6	0.0
18	54688088	T	G	18	57020857	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	7.82152694110954E-6	0.0
18	54694223	C	A	18	57026992	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.72257470505383E-4	0.102
18	54694223	C	G	18	57026992	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.22695743858147E-4	0.09
18	54694223	C	T	18	57026992	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.24678065278357E-4	0.226
18	54694224	T	A	18	57026993	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.99992344109027	0.958
18	54694224	T	C	18	57026993	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0102324608678095	0.178
18	54694224	T	G	18	57026993	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0539482279135532	0.498
18	54694225	G	A	18	57026994	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.175750324337153	0.42
18	54694225	G	C	18	57026994	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0814737303275828	0.288
18	54694225	G	T	18	57026994	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0325340784568914	0.298
18	54694226	T	A	18	57026995	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.84759466908692	0.546
18	54694226	T	C	18	57026995	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.121956816727313	0.406
18	54694226	T	G	18	57026995	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.739062429805645	0.536
18	54694227	C	A	18	57026996	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00991182768038801	0.126
18	54694227	C	G	18	57026996	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0164128152005454	0.068
18	54694227	C	T	18	57026996	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.11941252954305E-4	0.008
18	54694228	C	A	18	57026997	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0377118412908026	0.148
18	54694228	C	G	18	57026997	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0479841981728522	0.132
18	54694228	C	T	18	57026997	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.64231667294456E-4	0.096
18	54694229	C	A	18	57026998	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.340384430008099	0.438
18	54694229	C	G	18	57026998	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.423420822672652	0.406
18	54694229	C	T	18	57026998	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.00225253085974921	0.058
18	54694230	T	A	18	57026999	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.018820060898097	0.246
18	54694230	T	C	18	57026999	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.42924779113998E-4	0.102
18	54694230	T	G	18	57026999	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.0326702088671582	0.27
18	54694231	C	A	18	57027000	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	6.79544725957621E-5	0.002
18	54694231	C	G	18	57027000	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	1.12416519004208E-4	0.0
18	54694231	C	T	18	57027000	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	8.60179346275942E-5	0.0
18	54694232	C	A	18	57027001	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.978561792208317	0.824
18	54694232	C	G	18	57027001	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.998569300205346	0.944
18	54694232	C	T	18	57027001	y	y	intronic	WDR7	.	.	intronic	ENSG00000091157	.	.	0.210904505127872	0.234
18	54694233	A	C	18	57027002	y	y	splicing	WDR7(NM_052834:exon27:c.4171-2A>C;NM_015285:exon28:c.4270-2A>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon27:c.4171-2A>C;ENST00000254442:exon28:c.4270-2A>C)	.	.	0.999988247793601	0.928
18	54694233	A	G	18	57027002	y	y	splicing	WDR7(NM_052834:exon27:c.4171-2A>G;NM_015285:exon28:c.4270-2A>G)	.	.	splicing	ENSG00000091157(ENST00000357574:exon27:c.4171-2A>G;ENST00000254442:exon28:c.4270-2A>G)	.	.	0.999988247793601	0.928
18	54694233	A	T	18	57027002	y	y	splicing	WDR7(NM_052834:exon27:c.4171-2A>T;NM_015285:exon28:c.4270-2A>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon27:c.4171-2A>T;ENST00000254442:exon28:c.4270-2A>T)	.	.	0.999988247793601	0.928
18	54694234	G	A	18	57027003	y	y	splicing	WDR7(NM_052834:exon27:c.4171-1G>A;NM_015285:exon28:c.4270-1G>A)	.	.	splicing	ENSG00000091157(ENST00000357574:exon27:c.4171-1G>A;ENST00000254442:exon28:c.4270-1G>A)	.	.	0.999986675681007	0.932
18	54694234	G	C	18	57027003	y	y	splicing	WDR7(NM_052834:exon27:c.4171-1G>C;NM_015285:exon28:c.4270-1G>C)	.	.	splicing	ENSG00000091157(ENST00000357574:exon27:c.4171-1G>C;ENST00000254442:exon28:c.4270-1G>C)	.	.	0.999986675681007	0.932
18	54694234	G	T	18	57027003	y	y	splicing	WDR7(NM_052834:exon27:c.4171-1G>T;NM_015285:exon28:c.4270-1G>T)	.	.	splicing	ENSG00000091157(ENST00000357574:exon27:c.4171-1G>T;ENST00000254442:exon28:c.4270-1G>T)	.	.	0.999986675681007	0.932
18	54694235	A	C	18	57027004	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon28:c.A4270C:p.M1424L;WDR7:NM_052834:exon27:c.A4171C:p.M1391L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon28:c.A4270C:p.M1424L;ENSG00000091157:ENST00000357574:exon27:c.A4171C:p.M1391L;ENSG00000091157:ENST00000589935:exon2:c.A1C:p.M1L;	0.382920341237667	0.498
18	54694235	A	G	18	57027004	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon28:c.A4270G:p.M1424V;WDR7:NM_052834:exon27:c.A4171G:p.M1391V;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon28:c.A4270G:p.M1424V;ENSG00000091157:ENST00000357574:exon27:c.A4171G:p.M1391V;ENSG00000091157:ENST00000589935:exon2:c.A1G:p.M1V;	0.0921539800013361	0.314
18	54694235	A	T	18	57027004	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon28:c.A4270T:p.M1424L;WDR7:NM_052834:exon27:c.A4171T:p.M1391L;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon28:c.A4270T:p.M1424L;ENSG00000091157:ENST00000357574:exon27:c.A4171T:p.M1391L;ENSG00000091157:ENST00000589935:exon2:c.A1T:p.M1L;	0.421723988842636	0.468
18	54694236	T	A	18	57027005	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon28:c.T4271A:p.M1424K;WDR7:NM_052834:exon27:c.T4172A:p.M1391K;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon28:c.T4271A:p.M1424K;ENSG00000091157:ENST00000357574:exon27:c.T4172A:p.M1391K;ENSG00000091157:ENST00000589935:exon2:c.T2A:p.M1K;	0.545472662774839	0.418
18	54694236	T	C	18	57027005	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon28:c.T4271C:p.M1424T;WDR7:NM_052834:exon27:c.T4172C:p.M1391T;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon28:c.T4271C:p.M1424T;ENSG00000091157:ENST00000357574:exon27:c.T4172C:p.M1391T;ENSG00000091157:ENST00000589935:exon2:c.T2C:p.M1T;	0.00503142517259852	0.106
18	54694236	T	G	18	57027005	y	y	exonic	WDR7	nonsynonymous SNV	WDR7:NM_015285:exon28:c.T4271G:p.M1424R;WDR7:NM_052834:exon27:c.T4172G:p.M1391R;	exonic	ENSG00000091157	nonsynonymous SNV	ENSG00000091157:ENST00000254442:exon28:c.T4271G:p.M1424R;ENSG00000091157:ENST00000357574:exon27:c.T4172G:p.M1391R;ENSG00000091157:ENST00000589935:exon2:c.T2G:p.M1R;	0.44596127554987	0.37
18	55020254	C	A	18	57353023	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon1:c.C177A:p.F59L;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.C177A:p.F59L;	0.547803207064225	0.758
18	55020254	C	G	18	57353023	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon1:c.C177G:p.F59L;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.C177G:p.F59L;	0.33604520604306	0.49
18	55020254	C	T	18	57353023	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon1:c.C177T:p.F59F;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.C177T:p.F59F;	0.921977603912574	0.388
18	55020255	C	A	18	57353024	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon1:c.C178A:p.R60R;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.C178A:p.R60R;	0.00423821686998396	0.146
18	55020255	C	G	18	57353024	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon1:c.C178G:p.R60G;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.C178G:p.R60G;	0.032449075340804	0.108
18	55020255	C	T	18	57353024	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon1:c.C178T:p.R60W;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.C178T:p.R60W;	0.0434394389283152	0.278
18	55020256	G	A	18	57353025	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon1:c.G179A:p.R60Q;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.G179A:p.R60Q;	0.999394266230201	0.968
18	55020256	G	C	18	57353025	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon1:c.G179C:p.R60P;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.G179C:p.R60P;	0.999906934368336	0.976
18	55020256	G	T	18	57353025	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon1:c.G179T:p.R60L;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon1:c.G179T:p.R60L;	0.999691559003043	0.956
18	55020257	G	A	18	57353026	y	y	splicing	ST8SIA3(NM_015879:exon1:c.179+1G>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon1:c.179+1G>A)	.	.	0.999986675681007	0.932
18	55020257	G	C	18	57353026	y	y	splicing	ST8SIA3(NM_015879:exon1:c.179+1G>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon1:c.179+1G>C)	.	.	0.999986675681007	0.932
18	55020257	G	T	18	57353026	y	y	splicing	ST8SIA3(NM_015879:exon1:c.179+1G>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon1:c.179+1G>T)	.	.	0.999986675681007	0.932
18	55020258	T	A	18	57353027	y	y	splicing	ST8SIA3(NM_015879:exon1:c.179+2T>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon1:c.179+2T>A)	.	.	0.999990155693597	0.928
18	55020258	T	C	18	57353027	y	y	splicing	ST8SIA3(NM_015879:exon1:c.179+2T>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon1:c.179+2T>C)	.	.	0.999952471728595	0.866
18	55020258	T	G	18	57353027	y	y	splicing	ST8SIA3(NM_015879:exon1:c.179+2T>G)	.	.	splicing	ENSG00000177511(ENST00000324000:exon1:c.179+2T>G)	.	.	0.999990155693597	0.928
18	55020259	G	A	18	57353028	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	9.30881808430796E-4	0.036
18	55020259	G	C	18	57353028	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.856550168503689	0.706
18	55020259	G	T	18	57353028	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.825917132144039	0.67
18	55020260	A	C	18	57353029	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.988781825671831	0.86
18	55020260	A	G	18	57353029	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.99918189550868	0.91
18	55020260	A	T	18	57353029	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999562448474662	0.884
18	55020261	G	A	18	57353030	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999910442425715	0.91
18	55020261	G	C	18	57353030	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999722793521126	0.956
18	55020261	G	T	18	57353030	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999928718156594	0.786
18	55020262	T	A	18	57353031	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.983621252985374	0.73
18	55020262	T	C	18	57353031	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.985903811238703	0.69
18	55020262	T	G	18	57353031	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.941747760123957	0.556
18	55020263	G	A	18	57353032	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00241724033714354	0.004
18	55020263	G	C	18	57353032	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00265386852611221	0.002
18	55020263	G	T	18	57353032	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0010327499008663	0.0
18	55020264	C	A	18	57353033	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	1.09659819656173E-4	0.004
18	55020264	C	G	18	57353033	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	1.10710114931588E-4	0.004
18	55020264	C	T	18	57353033	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	1.2466282736431E-4	0.0
18	55021621	G	A	18	57354390	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	3.45478344543654E-4	0.036
18	55021621	G	C	18	57354390	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.97070977004146E-4	0.068
18	55021621	G	T	18	57354390	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.14569464671997E-4	0.09
18	55021622	C	A	18	57354391	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00439036276825397	0.15
18	55021622	C	G	18	57354391	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00101192833545674	0.054
18	55021622	C	T	18	57354391	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	7.83400137342999E-4	0.126
18	55021623	T	A	18	57354392	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0604106033344835	0.308
18	55021623	T	C	18	57354392	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	1.38291175216033E-4	0.012
18	55021623	T	G	18	57354392	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0117761932883973	0.266
18	55021624	C	A	18	57354393	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0172125909438555	0.21
18	55021624	C	G	18	57354393	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0038771085589926	0.042
18	55021624	C	T	18	57354393	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.5557946271929E-4	0.058
18	55021625	C	A	18	57354394	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00355723647095343	0.112
18	55021625	C	G	18	57354394	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00107114851886089	0.092
18	55021625	C	T	18	57354394	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	4.25109817151371E-4	0.01
18	55021626	T	A	18	57354395	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.266531202981213	0.358
18	55021626	T	C	18	57354395	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	1.28448394442203E-4	0.008
18	55021626	T	G	18	57354395	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.326193027862925	0.358
18	55021627	C	A	18	57354396	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.647115280200514	0.546
18	55021627	C	G	18	57354396	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.636360570604203	0.558
18	55021627	C	T	18	57354396	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00401131249793012	0.078
18	55021628	T	A	18	57354397	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.99657391171261	0.84
18	55021628	T	C	18	57354397	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.220861060490746	0.276
18	55021628	T	G	18	57354397	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.996543398781556	0.848
18	55021629	C	A	18	57354398	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.30222013859185E-4	0.002
18	55021629	C	G	18	57354398	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.30222013859185E-4	0.002
18	55021629	C	T	18	57354398	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	7.76807832124873E-4	0.004
18	55021630	C	A	18	57354399	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.998196204602318	0.902
18	55021630	C	G	18	57354399	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999942567871258	0.978
18	55021630	C	T	18	57354399	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.932470107142279	0.386
18	55021631	A	C	18	57354400	y	y	splicing	ST8SIA3(NM_015879:exon2:c.180-2A>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.180-2A>C)	.	.	0.999993519952936	0.93
18	55021631	A	G	18	57354400	y	y	splicing	ST8SIA3(NM_015879:exon2:c.180-2A>G)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.180-2A>G)	.	.	0.999993519952936	0.93
18	55021631	A	T	18	57354400	y	y	splicing	ST8SIA3(NM_015879:exon2:c.180-2A>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.180-2A>T)	.	.	0.999993519952936	0.93
18	55021632	G	A	18	57354401	y	y	splicing	ST8SIA3(NM_015879:exon2:c.180-1G>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.180-1G>A)	.	.	0.999988247793601	0.926
18	55021632	G	C	18	57354401	y	y	splicing	ST8SIA3(NM_015879:exon2:c.180-1G>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.180-1G>C)	.	.	0.999988247793601	0.926
18	55021632	G	T	18	57354401	y	y	splicing	ST8SIA3(NM_015879:exon2:c.180-1G>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.180-1G>T)	.	.	0.999988247793601	0.926
18	55021633	G	A	18	57354402	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon2:c.G180A:p.R60R;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.G180A:p.R60R;	0.987658772771934	0.77
18	55021633	G	C	18	57354402	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon2:c.G180C:p.R60R;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.G180C:p.R60R;	0.998522850983115	0.92
18	55021633	G	T	18	57354402	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon2:c.G180T:p.R60R;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.G180T:p.R60R;	0.998878490093703	0.962
18	55021634	T	A	18	57354403	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.T181A:p.S61T;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.T181A:p.S61T;	0.052581725789354	0.386
18	55021634	T	C	18	57354403	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.T181C:p.S61P;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.T181C:p.S61P;	0.135394803184593	0.396
18	55021634	T	G	18	57354403	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.T181G:p.S61A;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.T181G:p.S61A;	0.158786260035213	0.444
18	55021753	A	C	18	57354522	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.A300C:p.Q100H;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.A300C:p.Q100H;	0.00174873648974324	0.02
18	55021753	A	G	18	57354522	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon2:c.A300G:p.Q100Q;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.A300G:p.Q100Q;	0.0205785942152223	0.266
18	55021753	A	T	18	57354522	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.A300T:p.Q100H;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.A300T:p.Q100H;	0.100740123059014	0.346
18	55021754	A	C	18	57354523	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon2:c.A301C:p.R101R;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.A301C:p.R101R;	0.997883440631962	0.922
18	55021754	A	G	18	57354523	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.A301G:p.R101G;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.A301G:p.R101G;	0.999732687679569	0.992
18	55021754	A	T	18	57354523	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.A301T:p.R101W;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.A301T:p.R101W;	0.999809936091777	0.974
18	55021755	G	A	18	57354524	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.G302A:p.R101K;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.G302A:p.R101K;	0.999982568090477	1.0
18	55021755	G	C	18	57354524	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.G302C:p.R101T;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.G302C:p.R101T;	0.999990644514568	0.984
18	55021755	G	T	18	57354524	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon2:c.G302T:p.R101M;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon2:c.G302T:p.R101M;	0.99998986901139	1.0
18	55021756	G	A	18	57354525	y	y	splicing	ST8SIA3(NM_015879:exon2:c.302+1G>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.302+1G>A)	.	.	0.999988247793601	0.93
18	55021756	G	C	18	57354525	y	y	splicing	ST8SIA3(NM_015879:exon2:c.302+1G>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.302+1G>C)	.	.	0.999988247793601	0.93
18	55021756	G	T	18	57354525	y	y	splicing	ST8SIA3(NM_015879:exon2:c.302+1G>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.302+1G>T)	.	.	0.999988247793601	0.93
18	55021757	T	A	18	57354526	y	y	splicing	ST8SIA3(NM_015879:exon2:c.302+2T>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.302+2T>A)	.	.	0.999993519952936	0.93
18	55021757	T	C	18	57354526	y	y	splicing	ST8SIA3(NM_015879:exon2:c.302+2T>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.302+2T>C)	.	.	0.993596150545159	0.584
18	55021757	T	G	18	57354526	y	y	splicing	ST8SIA3(NM_015879:exon2:c.302+2T>G)	.	.	splicing	ENSG00000177511(ENST00000324000:exon2:c.302+2T>G)	.	.	0.999993519952936	0.93
18	55021758	A	C	18	57354527	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.992923634285533	0.778
18	55021758	A	G	18	57354527	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.850167405133336	0.67
18	55021758	A	T	18	57354527	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.998095495704082	0.836
18	55021759	G	A	18	57354528	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00591622643299573	0.062
18	55021759	G	C	18	57354528	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0468781833933171	0.248
18	55021759	G	T	18	57354528	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0240878287026754	0.168
18	55021760	G	A	18	57354529	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.993508011491815	0.718
18	55021760	G	C	18	57354529	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.997093677479815	0.846
18	55021760	G	T	18	57354529	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999754347697429	0.888
18	55021761	A	C	18	57354530	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.21167816066427E-4	0.044
18	55021761	A	G	18	57354530	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	6.94636452592927E-5	0.008
18	55021761	A	T	18	57354530	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	5.35707121651141E-5	0.004
18	55021762	T	A	18	57354531	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.311725494905E-4	0.0
18	55021762	T	C	18	57354531	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	9.35323863762819E-5	0.002
18	55021762	T	G	18	57354531	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	1.29010444498197E-4	0.002
18	55021763	A	C	18	57354532	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00265775307614703	0.002
18	55021763	A	G	18	57354532	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00211962495410049	0.002
18	55021763	A	T	18	57354532	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00263017638058761	0.002
18	55024132	T	A	18	57356901	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.964388542063056	0.53
18	55024132	T	C	18	57356901	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.106461062252629	0.354
18	55024132	T	G	18	57356901	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.732741678368249	0.492
18	55024133	T	A	18	57356902	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.051217247718018	0.366
18	55024133	T	C	18	57356902	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0032412097980513	0.078
18	55024133	T	G	18	57356902	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0346789824825328	0.298
18	55024134	T	A	18	57356903	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	3.63955013921628E-4	0.186
18	55024134	T	C	18	57356903	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	6.63574244322604E-5	0.022
18	55024134	T	G	18	57356903	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	4.66582868910371E-4	0.158
18	55024135	T	A	18	57356904	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00679442325305641	0.172
18	55024135	T	C	18	57356904	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00115266177553909	0.064
18	55024135	T	G	18	57356904	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00405647447422259	0.178
18	55024136	T	A	18	57356905	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00242298792204887	0.114
18	55024136	T	C	18	57356905	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00226062153001767	0.024
18	55024136	T	G	18	57356905	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00191032082578163	0.1
18	55024137	A	C	18	57356906	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00339119426768811	0.018
18	55024137	A	G	18	57356906	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00478919481459892	0.028
18	55024137	A	T	18	57356906	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00339119426768811	0.024
18	55024138	T	A	18	57356907	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.174599520089926	0.258
18	55024138	T	C	18	57356907	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00559813595171364	0.064
18	55024138	T	G	18	57356907	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999862831448058	0.94
18	55024139	T	A	18	57356908	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.75068064847029	0.576
18	55024139	T	C	18	57356908	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.063583224059997	0.206
18	55024139	T	G	18	57356908	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.931470266918066	0.578
18	55024140	T	A	18	57356909	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00573699659529685	0.174
18	55024140	T	C	18	57356909	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00217850873733538	0.006
18	55024140	T	G	18	57356909	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0176240553717326	0.082
18	55024141	T	A	18	57356910	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.529887819221285	0.398
18	55024141	T	C	18	57356910	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	8.50954734822163E-4	0.022
18	55024141	T	G	18	57356910	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.996474430270732	0.728
18	55024142	A	C	18	57356911	y	y	splicing	ST8SIA3(NM_015879:exon3:c.303-2A>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.303-2A>C)	.	.	0.999988247793601	0.928
18	55024142	A	G	18	57356911	y	y	splicing	ST8SIA3(NM_015879:exon3:c.303-2A>G)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.303-2A>G)	.	.	0.999988247793601	0.928
18	55024142	A	T	18	57356911	y	y	splicing	ST8SIA3(NM_015879:exon3:c.303-2A>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.303-2A>T)	.	.	0.999988247793601	0.928
18	55024143	G	A	18	57356912	y	y	splicing	ST8SIA3(NM_015879:exon3:c.303-1G>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.303-1G>A)	.	.	0.999990361384395	0.936
18	55024143	G	C	18	57356912	y	y	splicing	ST8SIA3(NM_015879:exon3:c.303-1G>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.303-1G>C)	.	.	0.999990361384395	0.936
18	55024143	G	T	18	57356912	y	y	splicing	ST8SIA3(NM_015879:exon3:c.303-1G>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.303-1G>T)	.	.	0.999990361384395	0.936
18	55024144	G	A	18	57356913	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon3:c.G303A:p.R101R;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.G303A:p.R101R;	0.789858644948431	0.61
18	55024144	G	C	18	57356913	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.G303C:p.R101S;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.G303C:p.R101S;	0.966448501294926	0.692
18	55024144	G	T	18	57356913	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.G303T:p.R101S;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.G303T:p.R101S;	0.964961301454401	0.74
18	55024145	C	A	18	57356914	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.C304A:p.Q102K;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.C304A:p.Q102K;	0.002390445873159	0.072
18	55024145	C	G	18	57356914	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.C304G:p.Q102E;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.C304G:p.Q102E;	0.0066853981730563	0.064
18	55024145	C	T	18	57356914	y	y	exonic	ST8SIA3	stopgain SNV	ST8SIA3:NM_015879:exon3:c.C304T:p.Q102X;	exonic	ENSG00000177511	stopgain SNV	ENSG00000177511:ENST00000324000:exon3:c.C304T:p.Q102X;	0.983216893753394	0.894
18	55024699	C	A	18	57357468	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.C858A:p.N286K;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.C858A:p.N286K;	0.0113249409166443	0.14
18	55024699	C	G	18	57357468	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.C858G:p.N286K;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.C858G:p.N286K;	0.0168114468886377	0.154
18	55024699	C	T	18	57357468	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon3:c.C858T:p.N286N;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.C858T:p.N286N;	0.954342631364527	0.644
18	55024700	A	C	18	57357469	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon3:c.A859C:p.R287R;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.A859C:p.R287R;	0.934646585434645	0.83
18	55024700	A	G	18	57357469	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.A859G:p.R287G;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.A859G:p.R287G;	0.999241736486342	0.994
18	55024700	A	T	18	57357469	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.A859T:p.R287W;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.A859T:p.R287W;	0.999856859507421	0.982
18	55024701	G	A	18	57357470	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.G860A:p.R287K;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.G860A:p.R287K;	0.999944926648128	0.994
18	55024701	G	C	18	57357470	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.G860C:p.R287T;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.G860C:p.R287T;	0.999990971590983	0.994
18	55024701	G	T	18	57357470	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon3:c.G860T:p.R287M;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon3:c.G860T:p.R287M;	0.999996378755442	0.99
18	55024702	G	A	18	57357471	y	y	splicing	ST8SIA3(NM_015879:exon3:c.860+1G>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.860+1G>A;ENST00000586360:exon1:c.319+1G>A)	.	.	0.999990361384395	0.938
18	55024702	G	C	18	57357471	y	y	splicing	ST8SIA3(NM_015879:exon3:c.860+1G>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.860+1G>C;ENST00000586360:exon1:c.319+1G>C)	.	.	0.999990361384395	0.936
18	55024702	G	T	18	57357471	y	y	splicing	ST8SIA3(NM_015879:exon3:c.860+1G>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.860+1G>T;ENST00000586360:exon1:c.319+1G>T)	.	.	0.999990361384395	0.938
18	55024703	T	A	18	57357472	y	y	splicing	ST8SIA3(NM_015879:exon3:c.860+2T>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.860+2T>A;ENST00000586360:exon1:c.319+2T>A)	.	.	0.999988247793601	0.93
18	55024703	T	C	18	57357472	y	y	splicing	ST8SIA3(NM_015879:exon3:c.860+2T>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.860+2T>C;ENST00000586360:exon1:c.319+2T>C)	.	.	0.999929727175276	0.868
18	55024703	T	G	18	57357472	y	y	splicing	ST8SIA3(NM_015879:exon3:c.860+2T>G)	.	.	splicing	ENSG00000177511(ENST00000324000:exon3:c.860+2T>G;ENST00000586360:exon1:c.319+2T>G)	.	.	0.999988247793601	0.93
18	55024704	G	A	18	57357473	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	3.28626198468129E-4	0.034
18	55024704	G	C	18	57357473	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0725550152917419	0.296
18	55024704	G	T	18	57357473	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00256386129486664	0.268
18	55024705	T	A	18	57357474	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	4.71446758891265E-4	0.05
18	55024705	T	C	18	57357474	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0196720400259364	0.148
18	55024705	T	G	18	57357474	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00203487439665291	0.026
18	55024706	G	A	18	57357475	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999742287782039	0.928
18	55024706	G	C	18	57357475	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.99990735593312	0.926
18	55024706	G	T	18	57357475	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999827290195818	0.854
18	55024707	T	A	18	57357476	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.710343129404774	0.694
18	55024707	T	C	18	57357476	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.514125879361126	0.472
18	55024707	T	G	18	57357476	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.273909309315763	0.468
18	55024708	A	C	18	57357477	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	5.27554107245598E-4	0.002
18	55024708	A	G	18	57357477	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	8.64003688141022E-4	0.002
18	55024708	A	T	18	57357477	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00550625983237888	0.012
18	55024709	T	A	18	57357478	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0044465930260597	0.03
18	55024709	T	C	18	57357478	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00523594437078446	0.024
18	55024709	T	G	18	57357478	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0044465930260597	0.02
18	55027214	A	C	18	57359983	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0163636308379993	0.182
18	55027214	A	G	18	57359983	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0168798797561056	0.198
18	55027214	A	T	18	57359983	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.00949769152815456	0.252
18	55027215	T	A	18	57359984	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.979829908166353	0.78
18	55027215	T	C	18	57359984	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.2603707499385	0.274
18	55027215	T	G	18	57359984	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999928362005319	0.944
18	55027216	T	A	18	57359985	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.999904239284869	0.94
18	55027216	T	C	18	57359985	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	4.98287305231976E-5	0.034
18	55027216	T	G	18	57359985	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.668373505660734	0.502
18	55027217	G	A	18	57359986	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.18760775174377E-4	0.062
18	55027217	G	C	18	57359986	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	3.92911822984777E-4	0.082
18	55027217	G	T	18	57359986	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	9.92267904387187E-5	0.05
18	55027218	T	A	18	57359987	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.716015825315102	0.578
18	55027218	T	C	18	57359987	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0223537613375261	0.112
18	55027218	T	G	18	57359987	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.25459136122152	0.46
18	55027219	T	A	18	57359988	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.687511890856449	0.748
18	55027219	T	C	18	57359988	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	3.08610633024405E-4	0.014
18	55027219	T	G	18	57359988	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.351739407719651	0.538
18	55027220	C	A	18	57359989	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0258345034425861	0.218
18	55027220	C	G	18	57359989	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.0485757440057676	0.28
18	55027220	C	T	18	57359989	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.30061787745819E-4	0.004
18	55027221	C	A	18	57359990	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	8.63725234902367E-4	0.028
18	55027221	C	G	18	57359990	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	6.12778981693353E-4	0.068
18	55027221	C	T	18	57359990	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	2.33061524842249E-5	0.002
18	55027222	A	C	18	57359991	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	8.89919954119755E-5	0.096
18	55027222	A	G	18	57359991	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	7.30408669678492E-5	0.09
18	55027222	A	T	18	57359991	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	1.30697189317866E-4	0.082
18	55027223	C	A	18	57359992	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.99899245837029	0.842
18	55027223	C	G	18	57359992	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.99994441581792	0.954
18	55027223	C	T	18	57359992	y	y	intronic	ST8SIA3	.	.	intronic	ENSG00000177511	.	.	0.277638449303213	0.17
18	55027224	A	C	18	57359993	y	y	splicing	ST8SIA3(NM_015879:exon4:c.861-2A>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon4:c.861-2A>C)	.	.	0.999988247793601	0.93
18	55027224	A	G	18	57359993	y	y	splicing	ST8SIA3(NM_015879:exon4:c.861-2A>G)	.	.	splicing	ENSG00000177511(ENST00000324000:exon4:c.861-2A>G)	.	.	0.999988247793601	0.93
18	55027224	A	T	18	57359993	y	y	splicing	ST8SIA3(NM_015879:exon4:c.861-2A>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon4:c.861-2A>T)	.	.	0.999988247793601	0.93
18	55027225	G	A	18	57359994	y	y	splicing	ST8SIA3(NM_015879:exon4:c.861-1G>A)	.	.	splicing	ENSG00000177511(ENST00000324000:exon4:c.861-1G>A)	.	.	0.999990361384395	0.938
18	55027225	G	C	18	57359994	y	y	splicing	ST8SIA3(NM_015879:exon4:c.861-1G>C)	.	.	splicing	ENSG00000177511(ENST00000324000:exon4:c.861-1G>C)	.	.	0.999990361384395	0.938
18	55027225	G	T	18	57359994	y	y	splicing	ST8SIA3(NM_015879:exon4:c.861-1G>T)	.	.	splicing	ENSG00000177511(ENST00000324000:exon4:c.861-1G>T)	.	.	0.999990361384395	0.938
18	55027226	G	A	18	57359995	y	y	exonic	ST8SIA3	synonymous SNV	ST8SIA3:NM_015879:exon4:c.G861A:p.R287R;	exonic	ENSG00000177511	synonymous SNV	ENSG00000177511:ENST00000324000:exon4:c.G861A:p.R287R;	0.642800943623348	0.56
18	55027226	G	C	18	57359995	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon4:c.G861C:p.R287S;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon4:c.G861C:p.R287S;	0.990680709823586	0.83
18	55027226	G	T	18	57359995	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon4:c.G861T:p.R287S;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon4:c.G861T:p.R287S;	0.996435221596739	0.9
18	55027227	T	A	18	57359996	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon4:c.T862A:p.Y288N;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon4:c.T862A:p.Y288N;	0.779755959188814	0.586
18	55027227	T	C	18	57359996	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon4:c.T862C:p.Y288H;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon4:c.T862C:p.Y288H;	0.563704758202013	0.644
18	55027227	T	G	18	57359996	y	y	exonic	ST8SIA3	nonsynonymous SNV	ST8SIA3:NM_015879:exon4:c.T862G:p.Y288D;	exonic	ENSG00000177511	nonsynonymous SNV	ENSG00000177511:ENST00000324000:exon4:c.T862G:p.Y288D;	0.848152017061368	0.63
18	55104174	C	A	18	57436942	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon1:c.C1226A:p.A409E;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.C1226A:p.A409E;	0.582731995335215	0.576
18	55104174	C	G	18	57436942	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon1:c.C1226G:p.A409G;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.C1226G:p.A409G;	0.478636728924174	0.398
18	55104174	C	T	18	57436942	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon1:c.C1226T:p.A409V;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.C1226T:p.A409V;	0.956088793805571	0.642
18	55104175	A	C	18	57436943	y	y	exonic	ONECUT2	synonymous SNV	ONECUT2:NM_004852:exon1:c.A1227C:p.A409A;	exonic	ENSG00000119547	synonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.A1227C:p.A409A;	0.938436607471027	0.704
18	55104175	A	G	18	57436943	y	y	exonic	ONECUT2	synonymous SNV	ONECUT2:NM_004852:exon1:c.A1227G:p.A409A;	exonic	ENSG00000119547	synonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.A1227G:p.A409A;	0.939513122649501	0.702
18	55104175	A	T	18	57436943	y	y	exonic	ONECUT2	synonymous SNV	ONECUT2:NM_004852:exon1:c.A1227T:p.A409A;	exonic	ENSG00000119547	synonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.A1227T:p.A409A;	0.917790894114317	0.518
18	55104176	G	A	18	57436944	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon1:c.G1228A:p.A410T;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.G1228A:p.A410T;	0.999790435461615	0.966
18	55104176	G	C	18	57436944	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon1:c.G1228C:p.A410P;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.G1228C:p.A410P;	0.999901217764195	0.968
18	55104176	G	T	18	57436944	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon1:c.G1228T:p.A410S;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon1:c.G1228T:p.A410S;	0.99987624358016	0.946
18	55104177	G	A	18	57436945	y	y	splicing	ONECUT2(NM_004852:exon1:c.1228+1G>A)	.	.	splicing	ENSG00000119547(ENST00000491143:exon1:c.1228+1G>A)	.	.	0.999988247793601	0.932
18	55104177	G	C	18	57436945	y	y	splicing	ONECUT2(NM_004852:exon1:c.1228+1G>C)	.	.	splicing	ENSG00000119547(ENST00000491143:exon1:c.1228+1G>C)	.	.	0.999988247793601	0.93
18	55104177	G	T	18	57436945	y	y	splicing	ONECUT2(NM_004852:exon1:c.1228+1G>T)	.	.	splicing	ENSG00000119547(ENST00000491143:exon1:c.1228+1G>T)	.	.	0.999988247793601	0.932
18	55104178	T	A	18	57436946	y	y	splicing	ONECUT2(NM_004852:exon1:c.1228+2T>A)	.	.	splicing	ENSG00000119547(ENST00000491143:exon1:c.1228+2T>A)	.	.	0.999993672935256	0.93
18	55104178	T	C	18	57436946	y	y	splicing	ONECUT2(NM_004852:exon1:c.1228+2T>C)	.	.	splicing	ENSG00000119547(ENST00000491143:exon1:c.1228+2T>C)	.	.	0.983192923323245	0.59
18	55104178	T	G	18	57436946	y	y	splicing	ONECUT2(NM_004852:exon1:c.1228+2T>G)	.	.	splicing	ENSG00000119547(ENST00000491143:exon1:c.1228+2T>G)	.	.	0.999993672935256	0.928
18	55104179	A	C	18	57436947	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.980766551818228	0.716
18	55104179	A	G	18	57436947	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.00443222583157554	0.124
18	55104179	A	T	18	57436947	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.99565350681082	0.814
18	55104180	A	C	18	57436948	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.85010258650453	0.612
18	55104180	A	G	18	57436948	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.98378701500965	0.65
18	55104180	A	T	18	57436948	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.919829989237101	0.634
18	55104181	G	A	18	57436949	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.998231631297235	0.744
18	55104181	G	C	18	57436949	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.977111487383728	0.66
18	55104181	G	T	18	57436949	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.991380984786277	0.65
18	55104182	G	A	18	57436950	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	4.36110761031417E-4	0.008
18	55104182	G	C	18	57436950	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.24093705034479E-4	0.026
18	55104182	G	T	18	57436950	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	7.66591255820923E-5	0.0
18	55104183	C	A	18	57436951	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	9.11159464097565E-5	0.0
18	55104183	C	G	18	57436951	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.42781792791885E-5	0.0
18	55104183	C	T	18	57436951	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	9.31494776599194E-5	0.0
18	55104184	C	A	18	57436952	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.18287573679198E-5	0.0
18	55104184	C	G	18	57436952	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.98187936635727E-5	0.0
18	55104184	C	T	18	57436952	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.18287573679198E-5	0.0
18	55111657	T	A	18	57444425	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	8.96592936074085E-5	0.0
18	55111657	T	C	18	57444425	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	9.91219527972473E-5	0.0
18	55111657	T	G	18	57444425	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	8.28680695200167E-5	0.0
18	55111658	G	A	18	57444426	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	1.25127277867221E-4	0.184
18	55111658	G	C	18	57444426	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	9.55800806316548E-5	0.01
18	55111658	G	T	18	57444426	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	1.23990001900786E-4	0.008
18	55111659	G	A	18	57444427	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	1.1371596776353E-4	0.076
18	55111659	G	C	18	57444427	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	1.65164625162413E-4	0.014
18	55111659	G	T	18	57444427	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	1.50353606863553E-4	0.012
18	55111660	G	A	18	57444428	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon1:c.52+1G>A)	.	.	5.80793394726513E-5	0.01
18	55111660	G	C	18	57444428	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon1:c.52+1G>C)	.	.	4.04096031973704E-5	0.01
18	55111660	G	T	18	57444428	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon1:c.52+1G>T)	.	.	4.04096031973704E-5	0.01
18	55111661	T	A	18	57444429	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon1:c.52+2T>A)	.	.	1.67779100725664E-4	0.002
18	55111661	T	C	18	57444429	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon1:c.52+2T>C)	.	.	2.33864532809296E-4	0.004
18	55111661	T	G	18	57444429	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon1:c.52+2T>G)	.	.	2.33864532809296E-4	0.006
18	55111662	G	A	18	57444430	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	2.23008612738095E-4	0.032
18	55111662	G	C	18	57444430	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.23699594804022E-4	0.022
18	55111662	G	T	18	57444430	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	2.23008612738095E-4	0.026
18	55111663	G	A	18	57444431	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.69930370103191E-5	0.0
18	55111663	G	C	18	57444431	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.69930370103191E-5	0.0
18	55111663	G	T	18	57444431	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.69930370103191E-5	0.0
18	55111664	G	A	18	57444432	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	9.27237026149931E-5	0.0
18	55111664	G	C	18	57444432	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	9.27237026149931E-5	0.004
18	55111664	G	T	18	57444432	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	9.27237026149931E-5	0.0
18	55111665	T	A	18	57444433	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.69439264402225E-5	0.002
18	55111665	T	C	18	57444433	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.15941453541388E-5	0.004
18	55111665	T	G	18	57444433	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.15941453541388E-5	0.004
18	55111666	A	C	18	57444434	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.10853470952722E-4	0.016
18	55111666	A	G	18	57444434	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.10853470952722E-4	0.012
18	55111666	A	T	18	57444434	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.53826237697495E-4	0.008
18	55111667	G	A	18	57444435	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	4.17200160164891E-5	0.012
18	55111667	G	C	18	57444435	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.13536747317882E-5	0.012
18	55111667	G	T	18	57444435	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.13536747317882E-5	0.012
18	55134380	T	A	18	57467148	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.17564447662592E-4	0.0
18	55134380	T	C	18	57467148	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.06520082605731E-4	0.0
18	55134380	T	G	18	57467148	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.06520082605731E-4	0.0
18	55134381	G	A	18	57467149	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.23670744562471E-4	0.002
18	55134381	G	C	18	57467149	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.74480241737554E-4	0.002
18	55134381	G	T	18	57467149	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.23670744562471E-4	0.002
18	55134382	T	A	18	57467150	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.38113264713725E-5	0.012
18	55134382	T	C	18	57467150	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.38113264713725E-5	0.012
18	55134382	T	G	18	57467150	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.38113264713725E-5	0.012
18	55134383	T	A	18	57467151	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.1877777554816E-5	0.0
18	55134383	T	C	18	57467151	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.99263190704948E-5	0.0
18	55134383	T	G	18	57467151	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.99263190704948E-5	0.0
18	55134384	T	A	18	57467152	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.49403053016175E-5	0.006
18	55134384	T	C	18	57467152	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.49403053016175E-5	0.004
18	55134384	T	G	18	57467152	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.49403053016175E-5	0.004
18	55134385	T	A	18	57467153	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.14469246767614E-5	0.062
18	55134385	T	C	18	57467153	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.14469246767614E-5	0.0
18	55134385	T	G	18	57467153	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.14469246767614E-5	0.0
18	55134386	T	A	18	57467154	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.95623839174604E-5	0.096
18	55134386	T	C	18	57467154	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.95623839174604E-5	0.006
18	55134386	T	G	18	57467154	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.95623839174604E-5	0.006
18	55134387	T	A	18	57467155	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.84729574776877E-5	0.004
18	55134387	T	C	18	57467155	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.14469246767614E-5	0.0
18	55134387	T	G	18	57467155	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.14469246767614E-5	0.0
18	55134388	T	A	18	57467156	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.25587194415349E-5	0.006
18	55134388	T	C	18	57467156	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	2.21426686902123E-5	0.004
18	55134388	T	G	18	57467156	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	2.21426686902123E-5	0.004
18	55134389	C	A	18	57467157	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.00116689661169104	0.062
18	55134389	C	G	18	57467157	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.00116689661169104	0.042
18	55134389	C	T	18	57467157	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.00116689661169104	0.06
18	55134390	A	C	18	57467158	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.53-2A>C)	.	.	6.99263190704948E-5	0.0
18	55134390	A	G	18	57467158	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.53-2A>G)	.	.	6.99263190704948E-5	0.0
18	55134390	A	T	18	57467158	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.53-2A>T)	.	.	3.1877777554816E-5	0.0
18	55134391	G	A	18	57467159	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.53-1G>A)	.	.	9.56058489670908E-5	0.0
18	55134391	G	C	18	57467159	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.53-1G>C)	.	.	5.2602257648257E-5	0.0
18	55134391	G	T	18	57467159	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.53-1G>T)	.	.	9.56058489670908E-5	0.0
18	55134392	A	C	18	57467160	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	2.82827935381688E-5	0.002
18	55134392	A	G	18	57467160	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	7.29649089108586E-5	0.018
18	55134392	A	T	18	57467160	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	5.71964710011831E-5	0.084
18	55134393	G	A	18	57467161	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	7.24346459604783E-5	0.006
18	55134393	G	C	18	57467161	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	1.01915415094021E-4	0.014
18	55134393	G	T	18	57467161	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	1.48774368876284E-4	0.016
18	55134450	A	C	18	57467218	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	6.16979026867853E-4	0.026
18	55134450	A	G	18	57467218	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	0.00166922796589821	0.042
18	55134450	A	T	18	57467218	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	0.00166922796589821	0.044
18	55134451	C	A	18	57467219	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	2.59007098514123E-5	0.034
18	55134451	C	G	18	57467219	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	2.59007098514123E-5	0.034
18	55134451	C	T	18	57467219	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	7.10138825602451E-5	0.002
18	55134452	A	C	18	57467220	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	5.19467601979012E-4	0.048
18	55134452	A	G	18	57467220	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	1.03551888513283E-4	0.044
18	55134452	A	T	18	57467220	n	y	intronic	ONECUT2	.	.	exonic	ENSG00000119547	unknown	UNKNOWN	7.0408368037449E-5	0.082
18	55134453	G	A	18	57467221	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.113+1G>A)	.	.	1.02337758398172E-4	0.0
18	55134453	G	C	18	57467221	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.113+1G>C)	.	.	1.02337758398172E-4	0.0
18	55134453	G	T	18	57467221	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.113+1G>T)	.	.	1.02337758398172E-4	0.0
18	55134454	T	A	18	57467222	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.113+2T>A)	.	.	7.04278140930798E-5	0.004
18	55134454	T	C	18	57467222	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.113+2T>C)	.	.	7.04278140930798E-5	0.004
18	55134454	T	G	18	57467222	n	y	intronic	ONECUT2	.	.	splicing	ENSG00000119547(ENST00000481727:exon2:c.113+2T>G)	.	.	7.04278140930798E-5	0.004
18	55134455	A	C	18	57467223	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.86075475573093E-5	0.0
18	55134455	A	G	18	57467223	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.86075475573093E-5	0.0
18	55134455	A	T	18	57467223	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	5.86075475573093E-5	0.0
18	55134456	A	C	18	57467224	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.77993525610891E-5	0.0
18	55134456	A	G	18	57467224	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.77993525610891E-5	0.0
18	55134456	A	T	18	57467224	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	7.48293208623238E-5	0.0
18	55134457	G	A	18	57467225	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.23990001900786E-4	0.004
18	55134457	G	C	18	57467225	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.23990001900786E-4	0.0
18	55134457	G	T	18	57467225	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.23990001900786E-4	0.0
18	55134458	T	A	18	57467226	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.60947442822834E-5	0.0
18	55134458	T	C	18	57467226	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.60947442822834E-5	0.0
18	55134458	T	G	18	57467226	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.60947442822834E-5	0.0
18	55134459	G	A	18	57467227	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	7.5364181533214E-5	0.0
18	55134459	G	C	18	57467227	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	7.5364181533214E-5	0.0
18	55134459	G	T	18	57467227	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	7.5364181533214E-5	0.0
18	55134460	G	A	18	57467228	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.75289494538373E-5	0.002
18	55134460	G	C	18	57467228	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	4.52932449848953E-5	0.006
18	55134460	G	T	18	57467228	n	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.75289494538373E-5	0.002
18	55143657	T	A	18	57476425	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.049134678195276	0.23
18	55143657	T	C	18	57476425	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.00451184019627393	0.072
18	55143657	T	G	18	57476425	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.00833105873313952	0.168
18	55143658	T	A	18	57476426	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.0194907821164089	0.308
18	55143658	T	C	18	57476426	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.08486493973809E-4	0.066
18	55143658	T	G	18	57476426	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.0140917675701562	0.148
18	55143659	T	A	18	57476427	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.242162320408899	0.308
18	55143659	T	C	18	57476427	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.00551816414131709	0.144
18	55143659	T	G	18	57476427	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.0741395115895214	0.236
18	55143660	C	A	18	57476428	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.226426777660501	0.252
18	55143660	C	G	18	57476428	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.13827243630993	0.234
18	55143660	C	T	18	57476428	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.0524211191342323	0.146
18	55143661	C	A	18	57476429	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.488118804998481	0.326
18	55143661	C	G	18	57476429	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.308560309580694	0.294
18	55143661	C	T	18	57476429	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.00387804225453377	0.09
18	55143662	C	A	18	57476430	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	9.9381478638043E-4	0.036
18	55143662	C	G	18	57476430	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.98910559800946E-4	0.052
18	55143662	C	T	18	57476430	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	4.42811437552571E-5	0.0
18	55143663	T	A	18	57476431	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.0168495711759196	0.168
18	55143663	T	C	18	57476431	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	3.22454239306561E-4	0.022
18	55143663	T	G	18	57476431	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.0383186608491668	0.214
18	55143664	T	A	18	57476432	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.833465930660074	0.666
18	55143664	T	C	18	57476432	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.275107751394238	0.384
18	55143664	T	G	18	57476432	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.913964531085593	0.676
18	55143665	C	A	18	57476433	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	6.32375571523994E-5	0.01
18	55143665	C	G	18	57476433	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	2.07808554912666E-4	0.016
18	55143665	C	T	18	57476433	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.00440539560863E-4	0.016
18	55143666	A	C	18	57476434	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.25428058231205E-4	0.1
18	55143666	A	G	18	57476434	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	0.127724744792776	0.424
18	55143666	A	T	18	57476434	y	y	intronic	ONECUT2	.	.	intronic	ENSG00000119547	.	.	1.06699817469339E-4	0.008
18	55143667	A	C	18	57476435	y	y	splicing	ONECUT2(NM_004852:exon2:c.1229-2A>C)	.	.	splicing	ENSG00000119547(ENST00000491143:exon2:c.1229-2A>C;ENST00000481727:exon3:c.114-2A>C)	.	.	0.999988247793601	0.93
18	55143667	A	G	18	57476435	y	y	splicing	ONECUT2(NM_004852:exon2:c.1229-2A>G)	.	.	splicing	ENSG00000119547(ENST00000491143:exon2:c.1229-2A>G;ENST00000481727:exon3:c.114-2A>G)	.	.	0.999988247793601	0.93
18	55143667	A	T	18	57476435	y	y	splicing	ONECUT2(NM_004852:exon2:c.1229-2A>T)	.	.	splicing	ENSG00000119547(ENST00000491143:exon2:c.1229-2A>T;ENST00000481727:exon3:c.114-2A>T)	.	.	0.999988247793601	0.93
18	55143668	G	A	18	57476436	y	y	splicing	ONECUT2(NM_004852:exon2:c.1229-1G>A)	.	.	splicing	ENSG00000119547(ENST00000491143:exon2:c.1229-1G>A;ENST00000481727:exon3:c.114-1G>A)	.	.	0.999990361384395	0.938
18	55143668	G	C	18	57476436	y	y	splicing	ONECUT2(NM_004852:exon2:c.1229-1G>C)	.	.	splicing	ENSG00000119547(ENST00000491143:exon2:c.1229-1G>C;ENST00000481727:exon3:c.114-1G>C)	.	.	0.999990361384395	0.938
18	55143668	G	T	18	57476436	y	y	splicing	ONECUT2(NM_004852:exon2:c.1229-1G>T)	.	.	splicing	ENSG00000119547(ENST00000491143:exon2:c.1229-1G>T;ENST00000481727:exon3:c.114-1G>T)	.	.	0.999990361384395	0.938
18	55143669	C	A	18	57476437	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon2:c.C1229A:p.A410E;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon2:c.C1229A:p.A410E;	0.319168095703713	0.43
18	55143669	C	G	18	57476437	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon2:c.C1229G:p.A410G;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon2:c.C1229G:p.A410G;	0.153597953978858	0.256
18	55143669	C	T	18	57476437	y	y	exonic	ONECUT2	nonsynonymous SNV	ONECUT2:NM_004852:exon2:c.C1229T:p.A410V;	exonic	ENSG00000119547	nonsynonymous SNV	ENSG00000119547:ENST00000491143:exon2:c.C1229T:p.A410V;	0.892514874044339	0.742
18	55143670	G	A	18	57476438	y	y	exonic	ONECUT2	synonymous SNV	ONECUT2:NM_004852:exon2:c.G1230A:p.A410A;	exonic	ENSG00000119547	synonymous SNV	ENSG00000119547:ENST00000491143:exon2:c.G1230A:p.A410A;	1.35980611202987E-4	0.022
18	55143670	G	C	18	57476438	y	y	exonic	ONECUT2	synonymous SNV	ONECUT2:NM_004852:exon2:c.G1230C:p.A410A;	exonic	ENSG00000119547	synonymous SNV	ENSG00000119547:ENST00000491143:exon2:c.G1230C:p.A410A;	1.00895258176461E-4	0.016
18	55143670	G	T	18	57476438	y	y	exonic	ONECUT2	synonymous SNV	ONECUT2:NM_004852:exon2:c.G1230T:p.A410A;	exonic	ENSG00000119547	synonymous SNV	ENSG00000119547:ENST00000491143:exon2:c.G1230T:p.A410A;	4.42446547476544E-5	0.01
18	55218077	G	A	18	57550845	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon11:c.C1157T:p.A386V;FECH:NM_000140:exon11:c.C1139T:p.A380V;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon11:c.C1139T:p.A380V;ENSG00000066926:ENST00000382873:exon11:c.C1157T:p.A386V;	0.982949215249925	0.872
18	55218077	G	C	18	57550845	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon11:c.C1157G:p.A386G;FECH:NM_000140:exon11:c.C1139G:p.A380G;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon11:c.C1139G:p.A380G;ENSG00000066926:ENST00000382873:exon11:c.C1157G:p.A386G;	0.854668208473519	0.592
18	55218077	G	T	18	57550845	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon11:c.C1157A:p.A386D;FECH:NM_000140:exon11:c.C1139A:p.A380D;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon11:c.C1139A:p.A380D;ENSG00000066926:ENST00000382873:exon11:c.C1157A:p.A386D;	0.992708558819609	0.878
18	55218078	C	A	18	57550846	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon11:c.G1156T:p.A386S;FECH:NM_000140:exon11:c.G1138T:p.A380S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon11:c.G1138T:p.A380S;ENSG00000066926:ENST00000382873:exon11:c.G1156T:p.A386S;	0.999764544967313	0.956
18	55218078	C	G	18	57550846	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon11:c.G1156C:p.A386P;FECH:NM_000140:exon11:c.G1138C:p.A380P;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon11:c.G1138C:p.A380P;ENSG00000066926:ENST00000382873:exon11:c.G1156C:p.A386P;	0.999574948744772	0.976
18	55218078	C	T	18	57550846	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon11:c.G1156A:p.A386T;FECH:NM_000140:exon11:c.G1138A:p.A380T;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon11:c.G1138A:p.A380T;ENSG00000066926:ENST00000382873:exon11:c.G1156A:p.A386T;	0.998717367715671	0.854
18	55218079	C	A	18	57550847	y	y	splicing	FECH(NM_000140:exon12:c.1138-1G>T;NM_001012515:exon12:c.1156-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon12:c.1138-1G>T;ENST00000382873:exon12:c.1156-1G>T;ENST00000585494:exon12:c.1201-1G>T)	.	.	0.999990361384395	0.938
18	55218079	C	G	18	57550847	y	y	splicing	FECH(NM_000140:exon12:c.1138-1G>C;NM_001012515:exon12:c.1156-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon12:c.1138-1G>C;ENST00000382873:exon12:c.1156-1G>C;ENST00000585494:exon12:c.1201-1G>C)	.	.	0.999990361384395	0.938
18	55218079	C	T	18	57550847	y	y	splicing	FECH(NM_000140:exon12:c.1138-1G>A;NM_001012515:exon12:c.1156-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon12:c.1138-1G>A;ENST00000382873:exon12:c.1156-1G>A;ENST00000585494:exon12:c.1201-1G>A)	.	.	0.999990361384395	0.938
18	55218080	T	A	18	57550848	y	y	splicing	FECH(NM_000140:exon12:c.1138-2A>T;NM_001012515:exon12:c.1156-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon12:c.1138-2A>T;ENST00000382873:exon12:c.1156-2A>T;ENST00000585494:exon12:c.1201-2A>T)	.	.	0.999988247793601	0.932
18	55218080	T	C	18	57550848	y	y	splicing	FECH(NM_000140:exon12:c.1138-2A>G;NM_001012515:exon12:c.1156-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon12:c.1138-2A>G;ENST00000382873:exon12:c.1156-2A>G;ENST00000585494:exon12:c.1201-2A>G)	.	.	0.999988247793601	0.93
18	55218080	T	G	18	57550848	y	y	splicing	FECH(NM_000140:exon12:c.1138-2A>C;NM_001012515:exon12:c.1156-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon12:c.1138-2A>C;ENST00000382873:exon12:c.1156-2A>C;ENST00000585494:exon12:c.1201-2A>C)	.	.	0.999988247793601	0.93
18	55218081	G	A	18	57550849	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0287115779043513	0.1
18	55218081	G	C	18	57550849	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.998990582150828	0.896
18	55218081	G	T	18	57550849	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.953172697299148	0.732
18	55218082	G	A	18	57550850	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.75013332299311E-5	0.018
18	55218082	G	C	18	57550850	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.60864665376417E-5	0.0
18	55218082	G	T	18	57550850	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.21494764456654E-5	0.002
18	55218083	A	C	18	57550851	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.592549691912041	0.516
18	55218083	A	G	18	57550851	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.79321336079173E-4	0.02
18	55218083	A	T	18	57550851	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.506989004710692	0.522
18	55218084	A	C	18	57550852	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.12614563296571	0.504
18	55218084	A	G	18	57550852	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.20671074362591E-5	0.004
18	55218084	A	T	18	57550852	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.108272848281659	0.49
18	55218085	G	A	18	57550853	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00168403291009757	0.07
18	55218085	G	C	18	57550853	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0250114348675137	0.154
18	55218085	G	T	18	57550853	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0634648009241434	0.264
18	55218086	A	C	18	57550854	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999878972294727	0.976
18	55218086	A	G	18	57550854	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.71428283545096E-5	0.026
18	55218086	A	T	18	57550854	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00557760296785196	0.216
18	55218087	T	A	18	57550855	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.68060793537975E-4	0.056
18	55218087	T	C	18	57550855	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.64280828254329E-4	0.02
18	55218087	T	G	18	57550855	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.96867703777382E-4	0.056
18	55218088	A	C	18	57550856	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.30118124852811	0.49
18	55218088	A	G	18	57550856	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.59344652535206E-4	0.082
18	55218088	A	T	18	57550856	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.405151169456669	0.436
18	55218089	G	A	18	57550857	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.50152318835351E-5	0.0
18	55218089	G	C	18	57550857	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.75372066961048E-4	0.012
18	55218089	G	T	18	57550857	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.41908062589358E-4	0.026
18	55218090	A	C	18	57550858	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0995966877454101	0.398
18	55218090	A	G	18	57550858	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.02936935073451E-4	0.008
18	55218090	A	T	18	57550858	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.234503783583243	0.462
18	55218539	G	A	18	57551307	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	1.58230489346902E-5	0.0
18	55218539	G	C	18	57551307	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	3.39294707313038E-4	0.058
18	55218539	G	T	18	57551307	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	1.87382441732629E-4	0.028
18	55218540	T	A	18	57551308	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	4.39737329021961E-5	0.008
18	55218540	T	C	18	57551308	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	9.83702512579944E-6	0.004
18	55218540	T	G	18	57551308	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	1.22643698097881E-5	0.0
18	55218541	A	C	18	57551309	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	4.7786567810484E-4	0.216
18	55218541	A	G	18	57551309	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	0.0024308825282399	0.284
18	55218541	A	T	18	57551309	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	0.00231433218330154	0.174
18	55218542	G	A	18	57551310	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	7.15847776214303E-4	0.048
18	55218542	G	C	18	57551310	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	2.86698260977808E-4	0.058
18	55218542	G	T	18	57551310	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	8.46434395409473E-4	0.084
18	55218543	A	C	18	57551311	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	6.41974784993489E-5	0.0
18	55218543	A	G	18	57551311	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	3.30976589766158E-5	0.002
18	55218543	A	T	18	57551311	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	3.81687678963161E-5	0.02
18	55218544	T	A	18	57551312	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	0.999885139439939	0.986
18	55218544	T	C	18	57551312	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	0.999580374068724	0.986
18	55218544	T	G	18	57551312	y	n	intronic	FECH	.	.	exonic	ENSG00000066926	unknown	UNKNOWN	0.999870985505497	0.984
18	55218545	A	C	18	57551313	y	n	splicing	FECH(NM_000140:exon11:c.1137+2T>G;NM_001012515:exon11:c.1155+2T>G)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon11:c.1137+2T>G;ENST00000382873:exon11:c.1155+2T>G;ENST00000585494:exon11:c.1200+2T>G)	unknown	UNKNOWN	0.999988247793601	0.936
18	55218545	A	G	18	57551313	y	n	splicing	FECH(NM_000140:exon11:c.1137+2T>C;NM_001012515:exon11:c.1155+2T>C)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon11:c.1137+2T>C;ENST00000382873:exon11:c.1155+2T>C;ENST00000585494:exon11:c.1200+2T>C)	unknown	UNKNOWN	0.994877988051647	0.69
18	55218545	A	T	18	57551313	y	n	splicing	FECH(NM_000140:exon11:c.1137+2T>A;NM_001012515:exon11:c.1155+2T>A)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon11:c.1137+2T>A;ENST00000382873:exon11:c.1155+2T>A;ENST00000585494:exon11:c.1200+2T>A)	unknown	UNKNOWN	0.999988247793601	0.936
18	55218546	C	A	18	57551314	y	n	splicing	FECH(NM_000140:exon11:c.1137+1G>T;NM_001012515:exon11:c.1155+1G>T)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon11:c.1137+1G>T;ENST00000382873:exon11:c.1155+1G>T;ENST00000585494:exon11:c.1200+1G>T)	unknown	UNKNOWN	0.999990361384395	0.938
18	55218546	C	G	18	57551314	y	n	splicing	FECH(NM_000140:exon11:c.1137+1G>C;NM_001012515:exon11:c.1155+1G>C)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon11:c.1137+1G>C;ENST00000382873:exon11:c.1155+1G>C;ENST00000585494:exon11:c.1200+1G>C)	unknown	UNKNOWN	0.999990361384395	0.938
18	55218546	C	T	18	57551314	y	n	splicing	FECH(NM_000140:exon11:c.1137+1G>A;NM_001012515:exon11:c.1155+1G>A)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon11:c.1137+1G>A;ENST00000382873:exon11:c.1155+1G>A;ENST00000585494:exon11:c.1200+1G>A)	unknown	UNKNOWN	0.999990361384395	0.938
18	55218547	C	A	18	57551315	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.G1155T:p.K385N;FECH:NM_000140:exon10:c.G1137T:p.K379N;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.G1137T:p.K379N;ENSG00000066926:ENST00000382873:exon10:c.G1155T:p.K385N;	0.999965651379775	0.978
18	55218547	C	G	18	57551315	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.G1155C:p.K385N;FECH:NM_000140:exon10:c.G1137C:p.K379N;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.G1137C:p.K379N;ENSG00000066926:ENST00000382873:exon10:c.G1155C:p.K385N;	0.999993902627279	1.0
18	55218547	C	T	18	57551315	y	n	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon10:c.G1155A:p.K385K;FECH:NM_000140:exon10:c.G1137A:p.K379K;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.G1137A:p.K379K;ENSG00000066926:ENST00000382873:exon10:c.G1155A:p.K385K;	0.999968348111535	1.0
18	55218548	T	A	18	57551316	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.A1154T:p.K385M;FECH:NM_000140:exon10:c.A1136T:p.K379M;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.A1136T:p.K379M;ENSG00000066926:ENST00000382873:exon10:c.A1154T:p.K385M;	0.999937135376132	0.998
18	55218548	T	C	18	57551316	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.A1154G:p.K385R;FECH:NM_000140:exon10:c.A1136G:p.K379R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.A1136G:p.K379R;ENSG00000066926:ENST00000382873:exon10:c.A1154G:p.K385R;	0.997532121136413	0.964
18	55218548	T	G	18	57551316	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.A1154C:p.K385T;FECH:NM_000140:exon10:c.A1136C:p.K379T;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.A1136C:p.K379T;ENSG00000066926:ENST00000382873:exon10:c.A1154C:p.K385T;	0.999884862261359	1.0
18	55218549	T	A	18	57551317	y	n	exonic	FECH	stopgain SNV	FECH:NM_001012515:exon10:c.A1153T:p.K385X;FECH:NM_000140:exon10:c.A1135T:p.K379X;	exonic	ENSG00000066926	stopgain SNV	ENSG00000066926:ENST00000262093:exon10:c.A1135T:p.K379X;ENSG00000066926:ENST00000382873:exon10:c.A1153T:p.K385X;	0.983301643832181	0.88
18	55218549	T	C	18	57551317	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.A1153G:p.K385E;FECH:NM_000140:exon10:c.A1135G:p.K379E;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.A1135G:p.K379E;ENSG00000066926:ENST00000382873:exon10:c.A1153G:p.K385E;	7.57468746332148E-4	0.034
18	55218549	T	G	18	57551317	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.A1153C:p.K385Q;FECH:NM_000140:exon10:c.A1135C:p.K379Q;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.A1135C:p.K379Q;ENSG00000066926:ENST00000382873:exon10:c.A1153C:p.K385Q;	8.87629991854436E-4	0.044
18	55218605	C	A	18	57551373	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.G1097T:p.C366F;FECH:NM_000140:exon10:c.G1079T:p.C360F;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.G1079T:p.C360F;ENSG00000066926:ENST00000382873:exon10:c.G1097T:p.C366F;	0.978892224776707	0.778
18	55218605	C	G	18	57551373	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.G1097C:p.C366S;FECH:NM_000140:exon10:c.G1079C:p.C360S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.G1079C:p.C360S;ENSG00000066926:ENST00000382873:exon10:c.G1097C:p.C366S;	0.00911498286828166	0.192
18	55218605	C	T	18	57551373	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.G1097A:p.C366Y;FECH:NM_000140:exon10:c.G1079A:p.C360Y;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.G1079A:p.C360Y;ENSG00000066926:ENST00000382873:exon10:c.G1097A:p.C366Y;	0.99321676283383	0.766
18	55218606	A	C	18	57551374	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.T1096G:p.C366G;FECH:NM_000140:exon10:c.T1078G:p.C360G;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.T1078G:p.C360G;ENSG00000066926:ENST00000382873:exon10:c.T1096G:p.C366G;	0.0343776871782749	0.226
18	55218606	A	G	18	57551374	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.T1096C:p.C366R;FECH:NM_000140:exon10:c.T1078C:p.C360R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.T1078C:p.C360R;ENSG00000066926:ENST00000382873:exon10:c.T1096C:p.C366R;	0.00445501249725001	0.084
18	55218606	A	T	18	57551374	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon10:c.T1096A:p.C366S;FECH:NM_000140:exon10:c.T1078A:p.C360S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon10:c.T1078A:p.C360S;ENSG00000066926:ENST00000382873:exon10:c.T1096A:p.C366S;	9.5794778735943E-4	0.022
18	55218607	C	A	18	57551375	y	y	splicing	FECH(NM_000140:exon11:c.1078-1G>T;NM_001012515:exon11:c.1096-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon11:c.1078-1G>T;ENST00000382873:exon11:c.1096-1G>T;ENST00000585494:exon11:c.1141-1G>T;ENST00000591977:exon5:c.345-1G>T)	.	.	0.999992425382947	0.94
18	55218607	C	G	18	57551375	y	y	splicing	FECH(NM_000140:exon11:c.1078-1G>C;NM_001012515:exon11:c.1096-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon11:c.1078-1G>C;ENST00000382873:exon11:c.1096-1G>C;ENST00000585494:exon11:c.1141-1G>C;ENST00000591977:exon5:c.345-1G>C)	.	.	0.999992425382947	0.94
18	55218607	C	T	18	57551375	y	y	splicing	FECH(NM_000140:exon11:c.1078-1G>A;NM_001012515:exon11:c.1096-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon11:c.1078-1G>A;ENST00000382873:exon11:c.1096-1G>A;ENST00000585494:exon11:c.1141-1G>A;ENST00000591977:exon5:c.345-1G>A)	.	.	0.999992425382947	0.94
18	55218608	T	A	18	57551376	y	y	splicing	FECH(NM_000140:exon11:c.1078-2A>T;NM_001012515:exon11:c.1096-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon11:c.1078-2A>T;ENST00000382873:exon11:c.1096-2A>T;ENST00000585494:exon11:c.1141-2A>T;ENST00000591977:exon5:c.345-2A>T)	.	.	0.999990764389106	0.942
18	55218608	T	C	18	57551376	y	y	splicing	FECH(NM_000140:exon11:c.1078-2A>G;NM_001012515:exon11:c.1096-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon11:c.1078-2A>G;ENST00000382873:exon11:c.1096-2A>G;ENST00000585494:exon11:c.1141-2A>G;ENST00000591977:exon5:c.345-2A>G)	.	.	0.999990764389106	0.942
18	55218608	T	G	18	57551376	y	y	splicing	FECH(NM_000140:exon11:c.1078-2A>C;NM_001012515:exon11:c.1096-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon11:c.1078-2A>C;ENST00000382873:exon11:c.1096-2A>C;ENST00000585494:exon11:c.1141-2A>C;ENST00000591977:exon5:c.345-2A>C)	.	.	0.999990764389106	0.942
18	55218609	G	A	18	57551377	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00859602589305248	0.18
18	55218609	G	C	18	57551377	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999945937905135	0.924
18	55218609	G	T	18	57551377	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99483635328932	0.872
18	55218610	A	C	18	57551378	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.1284644442896E-4	0.036
18	55218610	A	G	18	57551378	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.22831121164473E-4	0.024
18	55218610	A	T	18	57551378	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.52619254050298E-4	0.026
18	55218611	A	C	18	57551379	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99996695003794	0.968
18	55218611	A	G	18	57551379	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0428025701333448	0.19
18	55218611	A	T	18	57551379	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.921166748215628	0.712
18	55218612	T	A	18	57551380	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.26396660577005E-4	0.004
18	55218612	T	C	18	57551380	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00280507236270665	0.024
18	55218612	T	G	18	57551380	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.74075413227037E-4	0.004
18	55218613	C	A	18	57551381	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00195997432001254	0.044
18	55218613	C	G	18	57551381	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00195997432001254	0.036
18	55218613	C	T	18	57551381	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.445385848070583	0.2
18	55218614	A	C	18	57551382	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0327541838288395	0.35
18	55218614	A	G	18	57551382	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.98266478436417E-5	0.0
18	55218614	A	T	18	57551382	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999963503160057	0.958
18	55218615	A	C	18	57551383	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.690456316473469	0.492
18	55218615	A	G	18	57551383	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.63092284221432E-5	0.078
18	55218615	A	T	18	57551383	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.792180868447769	0.488
18	55218616	A	C	18	57551384	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999982806302827	0.978
18	55218616	A	G	18	57551384	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.911540726449487	0.436
18	55218616	A	T	18	57551384	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999823622364817	0.922
18	55218617	T	A	18	57551385	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.64322077264689E-4	0.174
18	55218617	T	C	18	57551385	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.87410959803173E-5	0.206
18	55218617	T	G	18	57551385	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.76005003093439E-5	0.128
18	55218618	G	A	18	57551386	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00914375647716674	0.128
18	55218618	G	C	18	57551386	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0396778765869566	0.146
18	55218618	G	T	18	57551386	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0298641855887784	0.144
18	55221484	G	A	18	57554252	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.15653111466176E-4	0.006
18	55221484	G	C	18	57554252	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.43796276785268E-4	0.008
18	55221484	G	T	18	57554252	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.09340877417411E-4	0.024
18	55221485	C	A	18	57554253	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.59032056070877E-4	0.016
18	55221485	C	G	18	57554253	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00339058707141598	0.004
18	55221485	C	T	18	57554253	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0037978371836278	0.012
18	55221486	A	C	18	57554254	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00126583424989218	0.136
18	55221486	A	G	18	57554254	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0172312859057436	0.154
18	55221486	A	T	18	57554254	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0235910822900612	0.194
18	55221487	T	A	18	57554255	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.1803100506124E-5	0.022
18	55221487	T	C	18	57554255	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.04163492266488E-4	0.1
18	55221487	T	G	18	57554255	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.65005750357414E-5	0.034
18	55221488	T	A	18	57554256	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.911809639412123	0.436
18	55221488	T	C	18	57554256	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.926640507889715	0.448
18	55221488	T	G	18	57554256	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.662175401030175	0.386
18	55221489	T	A	18	57554257	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999043687165136	0.736
18	55221489	T	C	18	57554257	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.736682970332128	0.63
18	55221489	T	G	18	57554257	y	n	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.998890584261062	0.778
18	55221490	A	C	18	57554258	y	n	splicing	FECH(NM_000140:exon10:c.1077+2T>G;NM_001012515:exon10:c.1095+2T>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.1077+2T>G;ENST00000382873:exon10:c.1095+2T>G;ENST00000585494:exon10:c.1140+2T>G;ENST00000591977:exon4:c.344+2T>G)	.	.	0.999988247793601	0.932
18	55221490	A	G	18	57554258	y	n	splicing	FECH(NM_000140:exon10:c.1077+2T>C;NM_001012515:exon10:c.1095+2T>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.1077+2T>C;ENST00000382873:exon10:c.1095+2T>C;ENST00000585494:exon10:c.1140+2T>C;ENST00000591977:exon4:c.344+2T>C)	.	.	0.996046924575706	0.718
18	55221490	A	T	18	57554258	y	n	splicing	FECH(NM_000140:exon10:c.1077+2T>A;NM_001012515:exon10:c.1095+2T>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.1077+2T>A;ENST00000382873:exon10:c.1095+2T>A;ENST00000585494:exon10:c.1140+2T>A;ENST00000591977:exon4:c.344+2T>A)	.	.	0.999988247793601	0.932
18	55221491	C	A	18	57554259	y	n	splicing	FECH(NM_000140:exon10:c.1077+1G>T;NM_001012515:exon10:c.1095+1G>T)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon10:c.1077+1G>T;ENST00000382873:exon10:c.1095+1G>T;ENST00000585494:exon10:c.1140+1G>T;ENST00000591977:exon4:c.344+1G>T)	unknown	UNKNOWN	0.999990361384395	0.938
18	55221491	C	G	18	57554259	y	n	splicing	FECH(NM_000140:exon10:c.1077+1G>C;NM_001012515:exon10:c.1095+1G>C)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon10:c.1077+1G>C;ENST00000382873:exon10:c.1095+1G>C;ENST00000585494:exon10:c.1140+1G>C;ENST00000591977:exon4:c.344+1G>C)	unknown	UNKNOWN	0.999990361384395	0.938
18	55221491	C	T	18	57554259	y	n	splicing	FECH(NM_000140:exon10:c.1077+1G>A;NM_001012515:exon10:c.1095+1G>A)	.	.	exonic;splicing	ENSG00000066926;ENSG00000066926(ENST00000262093:exon10:c.1077+1G>A;ENST00000382873:exon10:c.1095+1G>A;ENST00000585494:exon10:c.1140+1G>A;ENST00000591977:exon4:c.344+1G>A)	unknown	UNKNOWN	0.999990361384395	0.938
18	55221492	C	A	18	57554260	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.G1095T:p.E365D;FECH:NM_000140:exon9:c.G1077T:p.E359D;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.G978T:p.E326D;ENSG00000066926:ENST00000262093:exon9:c.G1077T:p.E359D;ENSG00000066926:ENST00000382873:exon9:c.G1095T:p.E365D;	0.99999001546654	1.0
18	55221492	C	G	18	57554260	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.G1095C:p.E365D;FECH:NM_000140:exon9:c.G1077C:p.E359D;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.G978C:p.E326D;ENSG00000066926:ENST00000262093:exon9:c.G1077C:p.E359D;ENSG00000066926:ENST00000382873:exon9:c.G1095C:p.E365D;	0.999998122414291	1.0
18	55221492	C	T	18	57554260	y	n	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon9:c.G1095A:p.E365E;FECH:NM_000140:exon9:c.G1077A:p.E359E;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.G978A:p.E326E;ENSG00000066926:ENST00000262093:exon9:c.G1077A:p.E359E;ENSG00000066926:ENST00000382873:exon9:c.G1095A:p.E365E;	0.999898801318256	1.0
18	55221493	T	A	18	57554261	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.A1094T:p.E365V;FECH:NM_000140:exon9:c.A1076T:p.E359V;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.A977T:p.E326V;ENSG00000066926:ENST00000262093:exon9:c.A1076T:p.E359V;ENSG00000066926:ENST00000382873:exon9:c.A1094T:p.E365V;	0.999808707554993	0.996
18	55221493	T	C	18	57554261	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.A1094G:p.E365G;FECH:NM_000140:exon9:c.A1076G:p.E359G;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.A977G:p.E326G;ENSG00000066926:ENST00000262093:exon9:c.A1076G:p.E359G;ENSG00000066926:ENST00000382873:exon9:c.A1094G:p.E365G;	0.999412146681505	0.964
18	55221493	T	G	18	57554261	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.A1094C:p.E365A;FECH:NM_000140:exon9:c.A1076C:p.E359A;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.A977C:p.E326A;ENSG00000066926:ENST00000262093:exon9:c.A1076C:p.E359A;ENSG00000066926:ENST00000382873:exon9:c.A1094C:p.E365A;	0.996322124563494	0.844
18	55221494	C	A	18	57554262	y	n	exonic	FECH	stopgain SNV	FECH:NM_001012515:exon9:c.G1093T:p.E365X;FECH:NM_000140:exon9:c.G1075T:p.E359X;	exonic	ENSG00000066926	stopgain SNV	ENSG00000066926:ENST00000592699:exon8:c.G976T:p.E326X;ENSG00000066926:ENST00000262093:exon9:c.G1075T:p.E359X;ENSG00000066926:ENST00000382873:exon9:c.G1093T:p.E365X;	0.822217848310202	0.636
18	55221494	C	G	18	57554262	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.G1093C:p.E365Q;FECH:NM_000140:exon9:c.G1075C:p.E359Q;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.G976C:p.E326Q;ENSG00000066926:ENST00000262093:exon9:c.G1075C:p.E359Q;ENSG00000066926:ENST00000382873:exon9:c.G1093C:p.E365Q;	0.350211282048825	0.602
18	55221494	C	T	18	57554262	y	n	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.G1093A:p.E365K;FECH:NM_000140:exon9:c.G1075A:p.E359K;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.G976A:p.E326K;ENSG00000066926:ENST00000262093:exon9:c.G1075A:p.E359K;ENSG00000066926:ENST00000382873:exon9:c.G1093A:p.E365K;	0.430949473707131	0.588
18	55221655	A	C	18	57554423	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.T932G:p.V311G;FECH:NM_000140:exon9:c.T914G:p.V305G;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.T815G:p.V272G;ENSG00000066926:ENST00000262093:exon9:c.T914G:p.V305G;ENSG00000066926:ENST00000382873:exon9:c.T932G:p.V311G;	0.484187744203593	0.554
18	55221655	A	G	18	57554423	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.T932C:p.V311A;FECH:NM_000140:exon9:c.T914C:p.V305A;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.T815C:p.V272A;ENSG00000066926:ENST00000262093:exon9:c.T914C:p.V305A;ENSG00000066926:ENST00000382873:exon9:c.T932C:p.V311A;	0.528907739803241	0.568
18	55221655	A	T	18	57554423	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.T932A:p.V311D;FECH:NM_000140:exon9:c.T914A:p.V305D;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.T815A:p.V272D;ENSG00000066926:ENST00000262093:exon9:c.T914A:p.V305D;ENSG00000066926:ENST00000382873:exon9:c.T932A:p.V311D;	0.464331886591048	0.566
18	55221656	C	A	18	57554424	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.G931T:p.V311F;FECH:NM_000140:exon9:c.G913T:p.V305F;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.G814T:p.V272F;ENSG00000066926:ENST00000262093:exon9:c.G913T:p.V305F;ENSG00000066926:ENST00000382873:exon9:c.G931T:p.V311F;	0.999880336339099	0.998
18	55221656	C	G	18	57554424	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.G931C:p.V311L;FECH:NM_000140:exon9:c.G913C:p.V305L;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.G814C:p.V272L;ENSG00000066926:ENST00000262093:exon9:c.G913C:p.V305L;ENSG00000066926:ENST00000382873:exon9:c.G931C:p.V311L;	0.999763109597949	0.96
18	55221656	C	T	18	57554424	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon9:c.G931A:p.V311I;FECH:NM_000140:exon9:c.G913A:p.V305I;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon8:c.G814A:p.V272I;ENSG00000066926:ENST00000262093:exon9:c.G913A:p.V305I;ENSG00000066926:ENST00000382873:exon9:c.G931A:p.V311I;	0.998921344717116	0.94
18	55221657	C	A	18	57554425	y	y	splicing	FECH(NM_000140:exon10:c.913-1G>T;NM_001012515:exon10:c.931-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.913-1G>T;ENST00000382873:exon10:c.931-1G>T;ENST00000585494:exon10:c.976-1G>T;ENST00000591977:exon4:c.180-1G>T;ENST00000592699:exon9:c.814-1G>T)	.	.	0.99995545544995	0.948
18	55221657	C	G	18	57554425	y	y	splicing	FECH(NM_000140:exon10:c.913-1G>C;NM_001012515:exon10:c.931-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.913-1G>C;ENST00000382873:exon10:c.931-1G>C;ENST00000585494:exon10:c.976-1G>C;ENST00000591977:exon4:c.180-1G>C;ENST00000592699:exon9:c.814-1G>C)	.	.	0.99995545544995	0.948
18	55221657	C	T	18	57554425	y	y	splicing	FECH(NM_000140:exon10:c.913-1G>A;NM_001012515:exon10:c.931-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.913-1G>A;ENST00000382873:exon10:c.931-1G>A;ENST00000585494:exon10:c.976-1G>A;ENST00000591977:exon4:c.180-1G>A;ENST00000592699:exon9:c.814-1G>A)	.	.	0.99995545544995	0.944
18	55221658	T	A	18	57554426	y	y	splicing	FECH(NM_000140:exon10:c.913-2A>T;NM_001012515:exon10:c.931-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.913-2A>T;ENST00000382873:exon10:c.931-2A>T;ENST00000585494:exon10:c.976-2A>T;ENST00000591977:exon4:c.180-2A>T;ENST00000592699:exon9:c.814-2A>T)	.	.	0.999946188727699	0.948
18	55221658	T	C	18	57554426	y	y	splicing	FECH(NM_000140:exon10:c.913-2A>G;NM_001012515:exon10:c.931-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.913-2A>G;ENST00000382873:exon10:c.931-2A>G;ENST00000585494:exon10:c.976-2A>G;ENST00000591977:exon4:c.180-2A>G;ENST00000592699:exon9:c.814-2A>G)	.	.	0.999946188727699	0.944
18	55221658	T	G	18	57554426	y	y	splicing	FECH(NM_000140:exon10:c.913-2A>C;NM_001012515:exon10:c.931-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon10:c.913-2A>C;ENST00000382873:exon10:c.931-2A>C;ENST00000585494:exon10:c.976-2A>C;ENST00000591977:exon4:c.180-2A>C;ENST00000592699:exon9:c.814-2A>C)	.	.	0.999946188727699	0.946
18	55221659	A	C	18	57554427	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.733572592249337	0.686
18	55221659	A	G	18	57554427	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.49971569512165E-5	0.026
18	55221659	A	T	18	57554427	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.88786585957909E-4	0.142
18	55221660	T	A	18	57554428	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.95305229666144E-5	0.002
18	55221660	T	C	18	57554428	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.49301927040208E-5	0.0
18	55221660	T	G	18	57554428	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.62807017734813E-6	0.002
18	55221661	G	A	18	57554429	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.29448637569301E-5	0.0
18	55221661	G	C	18	57554429	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00106228228265549	0.088
18	55221661	G	T	18	57554429	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.57173532353274E-4	0.08
18	55221662	C	A	18	57554430	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.3096521922547E-5	0.0
18	55221662	C	G	18	57554430	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.75612691901151E-5	0.022
18	55221662	C	T	18	57554430	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.99735264225659E-5	0.002
18	55221663	G	A	18	57554431	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.86233077025128E-5	0.004
18	55221663	G	C	18	57554431	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.51347174143867E-4	0.024
18	55221663	G	T	18	57554431	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.991952905110741	0.986
18	55221664	A	C	18	57554432	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.2152012276783E-4	0.058
18	55221664	A	G	18	57554432	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.37303897502703E-5	0.0
18	55221664	A	T	18	57554432	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.002866155301618	0.062
18	55221665	A	C	18	57554433	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00857906527745634	0.184
18	55221665	A	G	18	57554433	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.19906038225457E-4	0.002
18	55221665	A	T	18	57554433	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0131622910927225	0.168
18	55221666	A	C	18	57554434	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0488973856612584	0.414
18	55221666	A	G	18	57554434	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.83018326596101E-4	0.036
18	55221666	A	T	18	57554434	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.200318082411889	0.438
18	55221667	G	A	18	57554435	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00190404517490929	0.042
18	55221667	G	C	18	57554435	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.014728941764776	0.204
18	55221667	G	T	18	57554435	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0244132903205061	0.302
18	55221668	A	C	18	57554436	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.98759015028511	0.884
18	55221668	A	G	18	57554436	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.03549340316392E-4	0.054
18	55221668	A	T	18	57554436	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00170108130038712	0.082
18	55222069	C	A	18	57554837	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.3525528897954E-5	0.002
18	55222069	C	G	18	57554837	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.3525528897954E-5	0.002
18	55222069	C	T	18	57554837	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.3525528897954E-5	0.002
18	55222070	C	A	18	57554838	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.88530522465361E-4	0.004
18	55222070	C	G	18	57554838	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.88530522465361E-4	0.006
18	55222070	C	T	18	57554838	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.88530522465361E-4	0.004
18	55222071	A	C	18	57554839	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.333137406237913	0.238
18	55222071	A	G	18	57554839	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.464653612247162	0.316
18	55222071	A	T	18	57554839	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.489791288455017	0.358
18	55222072	C	A	18	57554840	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99920080379603	0.83
18	55222072	C	G	18	57554840	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.998742242992173	0.812
18	55222072	C	T	18	57554840	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.998862844143321	0.784
18	55222073	T	A	18	57554841	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0991778134675397	0.236
18	55222073	T	C	18	57554841	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.176135929162426	0.304
18	55222073	T	G	18	57554841	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.125588788091263	0.278
18	55222074	T	A	18	57554842	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.209631901230253	0.394
18	55222074	T	C	18	57554842	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.62509856355161E-4	0.038
18	55222074	T	G	18	57554842	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.475111810133402	0.562
18	55222075	A	C	18	57554843	y	y	splicing	FECH(NM_000140:exon9:c.912+2T>G;NM_001012515:exon9:c.930+2T>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.912+2T>G;ENST00000382873:exon9:c.930+2T>G;ENST00000585494:exon9:c.975+2T>G;ENST00000591977:exon3:c.179+2T>G;ENST00000592699:exon8:c.813+2T>G)	.	.	0.999988247793601	0.93
18	55222075	A	G	18	57554843	y	y	splicing	FECH(NM_000140:exon9:c.912+2T>C;NM_001012515:exon9:c.930+2T>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.912+2T>C;ENST00000382873:exon9:c.930+2T>C;ENST00000585494:exon9:c.975+2T>C;ENST00000591977:exon3:c.179+2T>C;ENST00000592699:exon8:c.813+2T>C)	.	.	0.991305317320824	0.666
18	55222075	A	T	18	57554843	y	y	splicing	FECH(NM_000140:exon9:c.912+2T>A;NM_001012515:exon9:c.930+2T>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.912+2T>A;ENST00000382873:exon9:c.930+2T>A;ENST00000585494:exon9:c.975+2T>A;ENST00000591977:exon3:c.179+2T>A;ENST00000592699:exon8:c.813+2T>A)	.	.	0.999988247793601	0.93
18	55222076	C	A	18	57554844	y	y	splicing	FECH(NM_000140:exon9:c.912+1G>T;NM_001012515:exon9:c.930+1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.912+1G>T;ENST00000382873:exon9:c.930+1G>T;ENST00000585494:exon9:c.975+1G>T;ENST00000591977:exon3:c.179+1G>T;ENST00000592699:exon8:c.813+1G>T)	.	.	0.999989072007339	0.934
18	55222076	C	G	18	57554844	y	y	splicing	FECH(NM_000140:exon9:c.912+1G>C;NM_001012515:exon9:c.930+1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.912+1G>C;ENST00000382873:exon9:c.930+1G>C;ENST00000585494:exon9:c.975+1G>C;ENST00000591977:exon3:c.179+1G>C;ENST00000592699:exon8:c.813+1G>C)	.	.	0.999989072007339	0.934
18	55222076	C	T	18	57554844	y	y	splicing	FECH(NM_000140:exon9:c.912+1G>A;NM_001012515:exon9:c.930+1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.912+1G>A;ENST00000382873:exon9:c.930+1G>A;ENST00000585494:exon9:c.975+1G>A;ENST00000591977:exon3:c.179+1G>A;ENST00000592699:exon8:c.813+1G>A)	.	.	0.999989072007339	0.934
18	55222077	C	A	18	57554845	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.G930T:p.K310N;FECH:NM_000140:exon8:c.G912T:p.K304N;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.G813T:p.K271N;ENSG00000066926:ENST00000262093:exon8:c.G912T:p.K304N;ENSG00000066926:ENST00000382873:exon8:c.G930T:p.K310N;	0.999841389548729	0.92
18	55222077	C	G	18	57554845	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.G930C:p.K310N;FECH:NM_000140:exon8:c.G912C:p.K304N;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.G813C:p.K271N;ENSG00000066926:ENST00000262093:exon8:c.G912C:p.K304N;ENSG00000066926:ENST00000382873:exon8:c.G930C:p.K310N;	0.999713817528633	0.924
18	55222077	C	T	18	57554845	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon8:c.G930A:p.K310K;FECH:NM_000140:exon8:c.G912A:p.K304K;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.G813A:p.K271K;ENSG00000066926:ENST00000262093:exon8:c.G912A:p.K304K;ENSG00000066926:ENST00000382873:exon8:c.G930A:p.K310K;	0.999368241699205	0.88
18	55222078	T	A	18	57554846	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.A929T:p.K310M;FECH:NM_000140:exon8:c.A911T:p.K304M;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.A812T:p.K271M;ENSG00000066926:ENST00000262093:exon8:c.A911T:p.K304M;ENSG00000066926:ENST00000382873:exon8:c.A929T:p.K310M;	0.987783444552666	0.676
18	55222078	T	C	18	57554846	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.A929G:p.K310R;FECH:NM_000140:exon8:c.A911G:p.K304R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.A812G:p.K271R;ENSG00000066926:ENST00000262093:exon8:c.A911G:p.K304R;ENSG00000066926:ENST00000382873:exon8:c.A929G:p.K310R;	0.992055597209972	0.758
18	55222078	T	G	18	57554846	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.A929C:p.K310T;FECH:NM_000140:exon8:c.A911C:p.K304T;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.A812C:p.K271T;ENSG00000066926:ENST00000262093:exon8:c.A911C:p.K304T;ENSG00000066926:ENST00000382873:exon8:c.A929C:p.K310T;	0.98073466416842	0.646
18	55222079	T	A	18	57554847	y	y	exonic	FECH	stopgain SNV	FECH:NM_001012515:exon8:c.A928T:p.K310X;FECH:NM_000140:exon8:c.A910T:p.K304X;	exonic	ENSG00000066926	stopgain SNV	ENSG00000066926:ENST00000592699:exon7:c.A811T:p.K271X;ENSG00000066926:ENST00000262093:exon8:c.A910T:p.K304X;ENSG00000066926:ENST00000382873:exon8:c.A928T:p.K310X;	0.938002438904525	0.586
18	55222079	T	C	18	57554847	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.A928G:p.K310E;FECH:NM_000140:exon8:c.A910G:p.K304E;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.A811G:p.K271E;ENSG00000066926:ENST00000262093:exon8:c.A910G:p.K304E;ENSG00000066926:ENST00000382873:exon8:c.A928G:p.K310E;	0.317039886162792	0.5
18	55222079	T	G	18	57554847	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.A928C:p.K310Q;FECH:NM_000140:exon8:c.A910C:p.K304Q;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.A811C:p.K271Q;ENSG00000066926:ENST00000262093:exon8:c.A910C:p.K304Q;ENSG00000066926:ENST00000382873:exon8:c.A928C:p.K310Q;	0.0986613440143475	0.404
18	55222183	A	C	18	57554951	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.T824G:p.V275G;FECH:NM_000140:exon8:c.T806G:p.V269G;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.T707G:p.V236G;ENSG00000066926:ENST00000262093:exon8:c.T806G:p.V269G;ENSG00000066926:ENST00000382873:exon8:c.T824G:p.V275G;	0.515561705324478	0.456
18	55222183	A	G	18	57554951	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.T824C:p.V275A;FECH:NM_000140:exon8:c.T806C:p.V269A;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.T707C:p.V236A;ENSG00000066926:ENST00000262093:exon8:c.T806C:p.V269A;ENSG00000066926:ENST00000382873:exon8:c.T824C:p.V275A;	0.214720056321787	0.388
18	55222183	A	T	18	57554951	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.T824A:p.V275E;FECH:NM_000140:exon8:c.T806A:p.V269E;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.T707A:p.V236E;ENSG00000066926:ENST00000262093:exon8:c.T806A:p.V269E;ENSG00000066926:ENST00000382873:exon8:c.T824A:p.V275E;	0.575842303262937	0.45
18	55222184	C	A	18	57554952	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.G823T:p.V275L;FECH:NM_000140:exon8:c.G805T:p.V269L;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.G706T:p.V236L;ENSG00000066926:ENST00000262093:exon8:c.G805T:p.V269L;ENSG00000066926:ENST00000382873:exon8:c.G823T:p.V275L;	0.999511984920842	0.992
18	55222184	C	G	18	57554952	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.G823C:p.V275L;FECH:NM_000140:exon8:c.G805C:p.V269L;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.G706C:p.V236L;ENSG00000066926:ENST00000262093:exon8:c.G805C:p.V269L;ENSG00000066926:ENST00000382873:exon8:c.G823C:p.V275L;	0.999499945171416	0.982
18	55222184	C	T	18	57554952	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon8:c.G823A:p.V275M;FECH:NM_000140:exon8:c.G805A:p.V269M;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon7:c.G706A:p.V236M;ENSG00000066926:ENST00000262093:exon8:c.G805A:p.V269M;ENSG00000066926:ENST00000382873:exon8:c.G823A:p.V275M;	0.999567912592171	0.87
18	55222185	C	A	18	57554953	y	y	splicing	FECH(NM_000140:exon9:c.805-1G>T;NM_001012515:exon9:c.823-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.805-1G>T;ENST00000382873:exon9:c.823-1G>T;ENST00000585494:exon9:c.868-1G>T;ENST00000591977:exon3:c.72-1G>T;ENST00000592699:exon8:c.706-1G>T)	.	.	0.999989072007339	0.934
18	55222185	C	G	18	57554953	y	y	splicing	FECH(NM_000140:exon9:c.805-1G>C;NM_001012515:exon9:c.823-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.805-1G>C;ENST00000382873:exon9:c.823-1G>C;ENST00000585494:exon9:c.868-1G>C;ENST00000591977:exon3:c.72-1G>C;ENST00000592699:exon8:c.706-1G>C)	.	.	0.999989072007339	0.934
18	55222185	C	T	18	57554953	y	y	splicing	FECH(NM_000140:exon9:c.805-1G>A;NM_001012515:exon9:c.823-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.805-1G>A;ENST00000382873:exon9:c.823-1G>A;ENST00000585494:exon9:c.868-1G>A;ENST00000591977:exon3:c.72-1G>A;ENST00000592699:exon8:c.706-1G>A)	.	.	0.999989072007339	0.934
18	55222186	T	A	18	57554954	y	y	splicing	FECH(NM_000140:exon9:c.805-2A>T;NM_001012515:exon9:c.823-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.805-2A>T;ENST00000382873:exon9:c.823-2A>T;ENST00000585494:exon9:c.868-2A>T;ENST00000591977:exon3:c.72-2A>T;ENST00000592699:exon8:c.706-2A>T)	.	.	0.999988247793601	0.93
18	55222186	T	C	18	57554954	y	y	splicing	FECH(NM_000140:exon9:c.805-2A>G;NM_001012515:exon9:c.823-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.805-2A>G;ENST00000382873:exon9:c.823-2A>G;ENST00000585494:exon9:c.868-2A>G;ENST00000591977:exon3:c.72-2A>G;ENST00000592699:exon8:c.706-2A>G)	.	.	0.999988247793601	0.93
18	55222186	T	G	18	57554954	y	y	splicing	FECH(NM_000140:exon9:c.805-2A>C;NM_001012515:exon9:c.823-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon9:c.805-2A>C;ENST00000382873:exon9:c.823-2A>C;ENST00000585494:exon9:c.868-2A>C;ENST00000591977:exon3:c.72-2A>C;ENST00000592699:exon8:c.706-2A>C)	.	.	0.999988247793601	0.93
18	55222187	G	A	18	57554955	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0164837290226568	0.06
18	55222187	G	C	18	57554955	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999847957210629	0.952
18	55222187	G	T	18	57554955	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99325971715583	0.76
18	55222188	C	A	18	57554956	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00924032116396414	0.048
18	55222188	C	G	18	57554956	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0051045365585014	0.052
18	55222188	C	T	18	57554956	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00924032116396414	0.048
18	55222189	A	C	18	57554957	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.838809835917709	0.502
18	55222189	A	G	18	57554957	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00192795953913961	0.084
18	55222189	A	T	18	57554957	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999702468313585	0.92
18	55222190	G	A	18	57554958	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.45232635733027E-6	0.0
18	55222190	G	C	18	57554958	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.88511898046062E-4	0.056
18	55222190	G	T	18	57554958	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.33407286774618E-4	0.05
18	55222191	C	A	18	57554959	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.05902423060921E-5	0.0
18	55222191	C	G	18	57554959	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.05426442865481E-5	0.006
18	55222191	C	T	18	57554959	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.60310273484943E-5	0.0
18	55222192	A	C	18	57554960	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00114016362924118	0.058
18	55222192	A	G	18	57554960	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.08740810941748E-6	0.004
18	55222192	A	T	18	57554960	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.96845961319298	0.906
18	55222193	G	A	18	57554961	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.66158224564465E-5	0.004
18	55222193	G	C	18	57554961	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.58853947848174E-4	0.054
18	55222193	G	T	18	57554961	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.07104625944753E-4	0.124
18	55222194	A	C	18	57554962	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0331982645824309	0.176
18	55222194	A	G	18	57554962	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.25388510676341E-4	0.01
18	55222194	A	T	18	57554962	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.036026691783012	0.192
18	55222195	G	A	18	57554963	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.97930926640417E-5	0.0
18	55222195	G	C	18	57554963	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.15006346615615E-4	0.012
18	55222195	G	T	18	57554963	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00137676372942668	0.058
18	55222196	A	C	18	57554964	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0818425744038515	0.342
18	55222196	A	G	18	57554964	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.33400784056911E-5	0.06
18	55222196	A	T	18	57554964	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.099527798849565	0.364
18	55226369	T	A	18	57559137	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.95308933334972E-5	0.094
18	55226369	T	C	18	57559137	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.88325167658386E-5	0.1
18	55226369	T	G	18	57559137	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.95308933334972E-5	0.13
18	55226370	T	A	18	57559138	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.24642133493272E-4	0.014
18	55226370	T	C	18	57559138	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.09369028011069E-4	0.034
18	55226370	T	G	18	57559138	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.09369028011069E-4	0.032
18	55226371	A	C	18	57559139	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.997413417674015	0.884
18	55226371	A	G	18	57559139	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.998506814514013	0.98
18	55226371	A	T	18	57559139	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.997433570517449	0.838
18	55226372	C	A	18	57559140	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999981353537167	0.984
18	55226372	C	G	18	57559140	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999986622903876	0.976
18	55226372	C	T	18	57559140	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999986407003876	0.994
18	55226373	T	A	18	57559141	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.990662739107086	0.798
18	55226373	T	C	18	57559141	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.997733452238935	0.864
18	55226373	T	G	18	57559141	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.990666582460011	0.756
18	55226374	T	A	18	57559142	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999416738713938	0.792
18	55226374	T	C	18	57559142	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.21956857661729	0.432
18	55226374	T	G	18	57559142	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99938912473054	0.86
18	55226375	A	C	18	57559143	y	y	splicing	FECH(NM_000140:exon8:c.804+2T>G;NM_001012515:exon8:c.822+2T>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.804+2T>G;ENST00000382873:exon8:c.822+2T>G;ENST00000585494:exon8:c.867+2T>G;ENST00000591977:exon2:c.71+2T>G)	.	.	0.999988247793601	0.928
18	55226375	A	G	18	57559143	y	y	splicing	FECH(NM_000140:exon8:c.804+2T>C;NM_001012515:exon8:c.822+2T>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.804+2T>C;ENST00000382873:exon8:c.822+2T>C;ENST00000585494:exon8:c.867+2T>C;ENST00000591977:exon2:c.71+2T>C)	.	.	0.998073660937629	0.77
18	55226375	A	T	18	57559143	y	y	splicing	FECH(NM_000140:exon8:c.804+2T>A;NM_001012515:exon8:c.822+2T>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.804+2T>A;ENST00000382873:exon8:c.822+2T>A;ENST00000585494:exon8:c.867+2T>A;ENST00000591977:exon2:c.71+2T>A)	.	.	0.999988247793601	0.928
18	55226376	C	A	18	57559144	y	y	splicing	FECH(NM_000140:exon8:c.804+1G>T;NM_001012515:exon8:c.822+1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.804+1G>T;ENST00000382873:exon8:c.822+1G>T;ENST00000585494:exon8:c.867+1G>T;ENST00000591977:exon2:c.71+1G>T)	.	.	0.999985532734767	0.936
18	55226376	C	G	18	57559144	y	y	splicing	FECH(NM_000140:exon8:c.804+1G>C;NM_001012515:exon8:c.822+1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.804+1G>C;ENST00000382873:exon8:c.822+1G>C;ENST00000585494:exon8:c.867+1G>C;ENST00000591977:exon2:c.71+1G>C)	.	.	0.999985532734767	0.936
18	55226376	C	T	18	57559144	y	y	splicing	FECH(NM_000140:exon8:c.804+1G>A;NM_001012515:exon8:c.822+1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.804+1G>A;ENST00000382873:exon8:c.822+1G>A;ENST00000585494:exon8:c.867+1G>A;ENST00000591977:exon2:c.71+1G>A)	.	.	0.999985532734767	0.936
18	55226377	A	C	18	57559145	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon7:c.T822G:p.S274S;FECH:NM_000140:exon7:c.T804G:p.S268S;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T804G:p.S268S;ENSG00000066926:ENST00000382873:exon7:c.T822G:p.S274S;	1.9725138039924E-4	0.074
18	55226377	A	G	18	57559145	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon7:c.T822C:p.S274S;FECH:NM_000140:exon7:c.T804C:p.S268S;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T804C:p.S268S;ENSG00000066926:ENST00000382873:exon7:c.T822C:p.S274S;	3.66104711446816E-4	0.164
18	55226377	A	T	18	57559145	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon7:c.T822A:p.S274S;FECH:NM_000140:exon7:c.T804A:p.S268S;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T804A:p.S268S;ENSG00000066926:ENST00000382873:exon7:c.T822A:p.S274S;	4.61802993988941E-5	0.006
18	55226378	G	A	18	57559146	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.C821T:p.S274F;FECH:NM_000140:exon7:c.C803T:p.S268F;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.C803T:p.S268F;ENSG00000066926:ENST00000382873:exon7:c.C821T:p.S274F;	0.990683149231638	0.928
18	55226378	G	C	18	57559146	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.C821G:p.S274C;FECH:NM_000140:exon7:c.C803G:p.S268C;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.C803G:p.S268C;ENSG00000066926:ENST00000382873:exon7:c.C821G:p.S274C;	0.985833759327704	0.892
18	55226378	G	T	18	57559146	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.C821A:p.S274Y;FECH:NM_000140:exon7:c.C803A:p.S268Y;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.C803A:p.S268Y;ENSG00000066926:ENST00000382873:exon7:c.C821A:p.S274Y;	0.960860432444585	0.724
18	55226379	A	C	18	57559147	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.T820G:p.S274A;FECH:NM_000140:exon7:c.T802G:p.S268A;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T802G:p.S268A;ENSG00000066926:ENST00000382873:exon7:c.T820G:p.S274A;	2.251732030477E-4	0.018
18	55226379	A	G	18	57559147	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.T820C:p.S274P;FECH:NM_000140:exon7:c.T802C:p.S268P;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T802C:p.S268P;ENSG00000066926:ENST00000382873:exon7:c.T820C:p.S274P;	7.63118160466278E-4	0.24
18	55226379	A	T	18	57559147	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.T820A:p.S274T;FECH:NM_000140:exon7:c.T802A:p.S268T;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T802A:p.S268T;ENSG00000066926:ENST00000382873:exon7:c.T820A:p.S274T;	8.03050180242519E-5	0.0
18	55226474	C	A	18	57559242	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.G725T:p.C242F;FECH:NM_000140:exon7:c.G707T:p.C236F;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.G707T:p.C236F;ENSG00000066926:ENST00000382873:exon7:c.G725T:p.C242F;	0.975446569801504	0.692
18	55226474	C	G	18	57559242	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.G725C:p.C242S;FECH:NM_000140:exon7:c.G707C:p.C236S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.G707C:p.C236S;ENSG00000066926:ENST00000382873:exon7:c.G725C:p.C242S;	0.966598938332535	0.724
18	55226474	C	T	18	57559242	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.G725A:p.C242Y;FECH:NM_000140:exon7:c.G707A:p.C236Y;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.G707A:p.C236Y;ENSG00000066926:ENST00000382873:exon7:c.G725A:p.C242Y;	0.977915645846994	0.656
18	55226475	A	C	18	57559243	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.T724G:p.C242G;FECH:NM_000140:exon7:c.T706G:p.C236G;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T706G:p.C236G;ENSG00000066926:ENST00000382873:exon7:c.T724G:p.C242G;	0.364227692372778	0.356
18	55226475	A	G	18	57559243	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.T724C:p.C242R;FECH:NM_000140:exon7:c.T706C:p.C236R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T706C:p.C236R;ENSG00000066926:ENST00000382873:exon7:c.T724C:p.C242R;	0.431195034963173	0.486
18	55226475	A	T	18	57559243	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon7:c.T724A:p.C242S;FECH:NM_000140:exon7:c.T706A:p.C236S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000262093:exon7:c.T706A:p.C236S;ENSG00000066926:ENST00000382873:exon7:c.T724A:p.C242S;	0.18248255027146	0.42
18	55226476	C	A	18	57559244	y	y	splicing	FECH(NM_000140:exon8:c.706-1G>T;NM_001012515:exon8:c.724-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.706-1G>T;ENST00000382873:exon8:c.724-1G>T;ENST00000585494:exon8:c.769-1G>T)	.	.	0.999976137096505	0.952
18	55226476	C	G	18	57559244	y	y	splicing	FECH(NM_000140:exon8:c.706-1G>C;NM_001012515:exon8:c.724-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.706-1G>C;ENST00000382873:exon8:c.724-1G>C;ENST00000585494:exon8:c.769-1G>C)	.	.	0.999938422912956	0.952
18	55226476	C	T	18	57559244	y	y	splicing	FECH(NM_000140:exon8:c.706-1G>A;NM_001012515:exon8:c.724-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.706-1G>A;ENST00000382873:exon8:c.724-1G>A;ENST00000585494:exon8:c.769-1G>A)	.	.	0.999976137096505	0.954
18	55226477	T	A	18	57559245	y	y	splicing	FECH(NM_000140:exon8:c.706-2A>T;NM_001012515:exon8:c.724-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.706-2A>T;ENST00000382873:exon8:c.724-2A>T;ENST00000585494:exon8:c.769-2A>T)	.	.	0.999966203349492	0.954
18	55226477	T	C	18	57559245	y	y	splicing	FECH(NM_000140:exon8:c.706-2A>G;NM_001012515:exon8:c.724-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.706-2A>G;ENST00000382873:exon8:c.724-2A>G;ENST00000585494:exon8:c.769-2A>G)	.	.	0.999966203349492	0.962
18	55226477	T	G	18	57559245	y	y	splicing	FECH(NM_000140:exon8:c.706-2A>C;NM_001012515:exon8:c.724-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon8:c.706-2A>C;ENST00000382873:exon8:c.724-2A>C;ENST00000585494:exon8:c.769-2A>C)	.	.	0.999966203349492	0.962
18	55226478	G	A	18	57559246	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.68879638854831E-4	0.124
18	55226478	G	C	18	57559246	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99982814710304	0.886
18	55226478	G	T	18	57559246	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.942920930441671	0.85
18	55226479	A	C	18	57559247	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.0172377895402E-4	0.078
18	55226479	A	G	18	57559247	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.30159441127818E-4	0.132
18	55226479	A	T	18	57559247	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.47676957901737E-5	0.046
18	55226480	G	A	18	57559248	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.80751745575175E-5	0.02
18	55226480	G	C	18	57559248	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999894329055917	0.942
18	55226480	G	T	18	57559248	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.36951191152251E-4	0.104
18	55226481	T	A	18	57559249	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.92494640104585E-5	0.006
18	55226481	T	C	18	57559249	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.05245057274878E-5	0.004
18	55226481	T	G	18	57559249	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.92494640104585E-5	0.004
18	55226482	G	A	18	57559250	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.04061775790241E-5	0.024
18	55226482	G	C	18	57559250	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.67702392587971E-4	0.056
18	55226482	G	T	18	57559250	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.09428638520982E-4	0.058
18	55226483	A	C	18	57559251	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.16754828753091E-4	0.098
18	55226483	A	G	18	57559251	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.88006121287332E-5	0.002
18	55226483	A	T	18	57559251	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0012648360984255	0.194
18	55226484	G	A	18	57559252	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.23465657342264E-5	0.01
18	55226484	G	C	18	57559252	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.998108679360216	0.768
18	55226484	G	T	18	57559252	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.15139010468152E-4	0.034
18	55226485	T	A	18	57559253	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.8753890925068E-5	0.104
18	55226485	T	C	18	57559253	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.94721339575817E-5	0.112
18	55226485	T	G	18	57559253	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.8753890925068E-5	0.092
18	55226486	A	C	18	57559254	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0755539901051052	0.484
18	55226486	A	G	18	57559254	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.2707006325695E-4	0.074
18	55226486	A	T	18	57559254	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0222671785072266	0.424
18	55226487	A	C	18	57559255	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0940436137459415	0.346
18	55226487	A	G	18	57559255	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.97787438681229E-5	0.004
18	55226487	A	T	18	57559255	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.436646581276367	0.404
18	55230098	T	A	18	57562866	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.77993525610891E-5	0.0
18	55230098	T	C	18	57562866	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.94361328042304E-5	0.0
18	55230098	T	G	18	57562866	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.77993525610891E-5	0.0
18	55230099	G	A	18	57562867	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.10885330496312E-5	0.0
18	55230099	G	C	18	57562867	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.10885330496312E-5	0.0
18	55230099	G	T	18	57562867	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.4746191741039E-5	0.0
18	55230100	G	A	18	57562868	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.28683930714838E-4	0.002
18	55230100	G	C	18	57562868	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.19769140744014E-4	0.042
18	55230100	G	T	18	57562868	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.38500298908137E-4	0.062
18	55230101	C	A	18	57562869	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99467589395395	0.718
18	55230101	C	G	18	57562869	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.95822002819555	0.628
18	55230101	C	T	18	57562869	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.993548017466537	0.698
18	55230102	T	A	18	57562870	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.132088805707064	0.346
18	55230102	T	C	18	57562870	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.204289640420945	0.354
18	55230102	T	G	18	57562870	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0998169648141023	0.342
18	55230103	T	A	18	57562871	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.505639820026886	0.412
18	55230103	T	C	18	57562871	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.66598761810419E-4	0.022
18	55230103	T	G	18	57562871	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.430571923500249	0.406
18	55230104	A	C	18	57562872	y	y	splicing	FECH(NM_000140:exon7:c.705+2T>G;NM_001012515:exon7:c.723+2T>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.705+2T>G;ENST00000382873:exon7:c.723+2T>G;ENST00000585494:exon7:c.768+2T>G;ENST00000592699:exon7:c.705+2T>G)	.	.	0.999988247793601	0.932
18	55230104	A	G	18	57562872	y	y	splicing	FECH(NM_000140:exon7:c.705+2T>C;NM_001012515:exon7:c.723+2T>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.705+2T>C;ENST00000382873:exon7:c.723+2T>C;ENST00000585494:exon7:c.768+2T>C;ENST00000592699:exon7:c.705+2T>C)	.	.	0.99340600729494	0.688
18	55230104	A	T	18	57562872	y	y	splicing	FECH(NM_000140:exon7:c.705+2T>A;NM_001012515:exon7:c.723+2T>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.705+2T>A;ENST00000382873:exon7:c.723+2T>A;ENST00000585494:exon7:c.768+2T>A;ENST00000592699:exon7:c.705+2T>A)	.	.	0.999988247793601	0.932
18	55230105	C	A	18	57562873	y	y	splicing	FECH(NM_000140:exon7:c.705+1G>T;NM_001012515:exon7:c.723+1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.705+1G>T;ENST00000382873:exon7:c.723+1G>T;ENST00000585494:exon7:c.768+1G>T;ENST00000592699:exon7:c.705+1G>T)	.	.	0.999990361384395	0.938
18	55230105	C	G	18	57562873	y	y	splicing	FECH(NM_000140:exon7:c.705+1G>C;NM_001012515:exon7:c.723+1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.705+1G>C;ENST00000382873:exon7:c.723+1G>C;ENST00000585494:exon7:c.768+1G>C;ENST00000592699:exon7:c.705+1G>C)	.	.	0.999990361384395	0.938
18	55230105	C	T	18	57562873	y	y	splicing	FECH(NM_000140:exon7:c.705+1G>A;NM_001012515:exon7:c.723+1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.705+1G>A;ENST00000382873:exon7:c.723+1G>A;ENST00000585494:exon7:c.768+1G>A;ENST00000592699:exon7:c.705+1G>A)	.	.	0.999990361384395	0.938
18	55230106	C	A	18	57562874	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.G723T:p.Q241H;FECH:NM_000140:exon6:c.G705T:p.Q235H;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.G705T:p.Q235H;ENSG00000066926:ENST00000262093:exon6:c.G705T:p.Q235H;ENSG00000066926:ENST00000382873:exon6:c.G723T:p.Q241H;	0.999922401787822	0.978
18	55230106	C	G	18	57562874	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.G723C:p.Q241H;FECH:NM_000140:exon6:c.G705C:p.Q235H;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.G705C:p.Q235H;ENSG00000066926:ENST00000262093:exon6:c.G705C:p.Q235H;ENSG00000066926:ENST00000382873:exon6:c.G723C:p.Q241H;	0.999963421002766	0.926
18	55230106	C	T	18	57562874	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon6:c.G723A:p.Q241Q;FECH:NM_000140:exon6:c.G705A:p.Q235Q;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.G705A:p.Q235Q;ENSG00000066926:ENST00000262093:exon6:c.G705A:p.Q235Q;ENSG00000066926:ENST00000382873:exon6:c.G723A:p.Q241Q;	0.999740739615035	0.88
18	55230107	T	A	18	57562875	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.A722T:p.Q241L;FECH:NM_000140:exon6:c.A704T:p.Q235L;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.A704T:p.Q235L;ENSG00000066926:ENST00000262093:exon6:c.A704T:p.Q235L;ENSG00000066926:ENST00000382873:exon6:c.A722T:p.Q241L;	0.986263888420891	0.596
18	55230107	T	C	18	57562875	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.A722G:p.Q241R;FECH:NM_000140:exon6:c.A704G:p.Q235R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.A704G:p.Q235R;ENSG00000066926:ENST00000262093:exon6:c.A704G:p.Q235R;ENSG00000066926:ENST00000382873:exon6:c.A722G:p.Q241R;	0.994808528104959	0.886
18	55230107	T	G	18	57562875	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.A722C:p.Q241P;FECH:NM_000140:exon6:c.A704C:p.Q235P;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.A704C:p.Q235P;ENSG00000066926:ENST00000262093:exon6:c.A704C:p.Q235P;ENSG00000066926:ENST00000382873:exon6:c.A722C:p.Q241P;	0.988450073638324	0.804
18	55230108	G	A	18	57562876	y	y	exonic	FECH	stopgain SNV	FECH:NM_001012515:exon6:c.C721T:p.Q241X;FECH:NM_000140:exon6:c.C703T:p.Q235X;	exonic	ENSG00000066926	stopgain SNV	ENSG00000066926:ENST00000592699:exon6:c.C703T:p.Q235X;ENSG00000066926:ENST00000262093:exon6:c.C703T:p.Q235X;ENSG00000066926:ENST00000382873:exon6:c.C721T:p.Q241X;	0.998517993334677	0.742
18	55230108	G	C	18	57562876	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.C721G:p.Q241E;FECH:NM_000140:exon6:c.C703G:p.Q235E;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.C703G:p.Q235E;ENSG00000066926:ENST00000262093:exon6:c.C703G:p.Q235E;ENSG00000066926:ENST00000382873:exon6:c.C721G:p.Q241E;	0.00341202971119142	0.122
18	55230108	G	T	18	57562876	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.C721A:p.Q241K;FECH:NM_000140:exon6:c.C703A:p.Q235K;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.C703A:p.Q235K;ENSG00000066926:ENST00000262093:exon6:c.C703A:p.Q235K;ENSG00000066926:ENST00000382873:exon6:c.C721A:p.Q241K;	0.023701988943208	0.146
18	55230211	G	A	18	57562979	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon6:c.C618T:p.G206G;FECH:NM_000140:exon6:c.C600T:p.G200G;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.C600T:p.G200G;ENSG00000066926:ENST00000262093:exon6:c.C600T:p.G200G;ENSG00000066926:ENST00000382873:exon6:c.C618T:p.G206G;	1.51120871263745E-4	0.004
18	55230211	G	C	18	57562979	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon6:c.C618G:p.G206G;FECH:NM_000140:exon6:c.C600G:p.G200G;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.C600G:p.G200G;ENSG00000066926:ENST00000262093:exon6:c.C600G:p.G200G;ENSG00000066926:ENST00000382873:exon6:c.C618G:p.G206G;	6.79649646483605E-5	0.01
18	55230211	G	T	18	57562979	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon6:c.C618A:p.G206G;FECH:NM_000140:exon6:c.C600A:p.G200G;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.C600A:p.G200G;ENSG00000066926:ENST00000262093:exon6:c.C600A:p.G200G;ENSG00000066926:ENST00000382873:exon6:c.C618A:p.G206G;	5.45812575612468E-5	0.0
18	55230212	C	A	18	57562980	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.G617T:p.G206V;FECH:NM_000140:exon6:c.G599T:p.G200V;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.G599T:p.G200V;ENSG00000066926:ENST00000262093:exon6:c.G599T:p.G200V;ENSG00000066926:ENST00000382873:exon6:c.G617T:p.G206V;	0.999906089105578	0.992
18	55230212	C	G	18	57562980	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.G617C:p.G206A;FECH:NM_000140:exon6:c.G599C:p.G200A;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.G599C:p.G200A;ENSG00000066926:ENST00000262093:exon6:c.G599C:p.G200A;ENSG00000066926:ENST00000382873:exon6:c.G617C:p.G206A;	0.999838589052857	0.99
18	55230212	C	T	18	57562980	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon6:c.G617A:p.G206D;FECH:NM_000140:exon6:c.G599A:p.G200D;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon6:c.G599A:p.G200D;ENSG00000066926:ENST00000262093:exon6:c.G599A:p.G200D;ENSG00000066926:ENST00000382873:exon6:c.G617A:p.G206D;	0.999191493934136	0.87
18	55230213	C	A	18	57562981	y	y	splicing	FECH(NM_000140:exon7:c.599-1G>T;NM_001012515:exon7:c.617-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.599-1G>T;ENST00000382873:exon7:c.617-1G>T;ENST00000585494:exon7:c.662-1G>T;ENST00000592699:exon7:c.599-1G>T)	.	.	0.999990361384395	0.938
18	55230213	C	G	18	57562981	y	y	splicing	FECH(NM_000140:exon7:c.599-1G>C;NM_001012515:exon7:c.617-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.599-1G>C;ENST00000382873:exon7:c.617-1G>C;ENST00000585494:exon7:c.662-1G>C;ENST00000592699:exon7:c.599-1G>C)	.	.	0.999990361384395	0.938
18	55230213	C	T	18	57562981	y	y	splicing	FECH(NM_000140:exon7:c.599-1G>A;NM_001012515:exon7:c.617-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.599-1G>A;ENST00000382873:exon7:c.617-1G>A;ENST00000585494:exon7:c.662-1G>A;ENST00000592699:exon7:c.599-1G>A)	.	.	0.999990361384395	0.938
18	55230214	T	A	18	57562982	y	y	splicing	FECH(NM_000140:exon7:c.599-2A>T;NM_001012515:exon7:c.617-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.599-2A>T;ENST00000382873:exon7:c.617-2A>T;ENST00000585494:exon7:c.662-2A>T;ENST00000592699:exon7:c.599-2A>T)	.	.	0.999988247793601	0.932
18	55230214	T	C	18	57562982	y	y	splicing	FECH(NM_000140:exon7:c.599-2A>G;NM_001012515:exon7:c.617-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.599-2A>G;ENST00000382873:exon7:c.617-2A>G;ENST00000585494:exon7:c.662-2A>G;ENST00000592699:exon7:c.599-2A>G)	.	.	0.999988247793601	0.932
18	55230214	T	G	18	57562982	y	y	splicing	FECH(NM_000140:exon7:c.599-2A>C;NM_001012515:exon7:c.617-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon7:c.599-2A>C;ENST00000382873:exon7:c.617-2A>C;ENST00000585494:exon7:c.662-2A>C;ENST00000592699:exon7:c.599-2A>C)	.	.	0.999988247793601	0.932
18	55230215	G	A	18	57562983	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00292539010989025	0.068
18	55230215	G	C	18	57562983	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999620130830501	0.93
18	55230215	G	T	18	57562983	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.688100467861648	0.642
18	55230216	A	C	18	57562984	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.91911165718568E-4	0.004
18	55230216	A	G	18	57562984	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.65120210341587E-4	0.036
18	55230216	A	T	18	57562984	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00320221392016403	0.044
18	55230217	A	C	18	57562985	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.982730109117873	0.518
18	55230217	A	G	18	57562985	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0195661207988679	0.096
18	55230217	A	T	18	57562985	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.816597735147378	0.472
18	55230218	A	C	18	57562986	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999921592547418	0.95
18	55230218	A	G	18	57562986	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.010932796614591	0.086
18	55230218	A	T	18	57562986	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.938617788653149	0.596
18	55230219	T	A	18	57562987	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.21403688932996E-5	0.004
18	55230219	T	C	18	57562987	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.04590715604386E-5	0.004
18	55230219	T	G	18	57562987	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.79460626224071E-5	0.004
18	55230220	A	C	18	57562988	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999894858338715	0.962
18	55230220	A	G	18	57562988	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00451890250442965	0.058
18	55230220	A	T	18	57562988	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0779056678775039	0.382
18	55230221	T	A	18	57562989	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.08097142128873E-5	0.034
18	55230221	T	C	18	57562989	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.86454187247395E-5	0.014
18	55230221	T	G	18	57562989	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.54020933894703E-5	0.016
18	55230222	A	C	18	57562990	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.985430852050726	0.864
18	55230222	A	G	18	57562990	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0130410131057671	0.154
18	55230222	A	T	18	57562990	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.893481724747908	0.688
18	55230223	C	A	18	57562991	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.73387256312691E-5	0.002
18	55230223	C	G	18	57562991	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.35082844333272E-5	0.0
18	55230223	C	T	18	57562991	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.4817611972059E-5	0.004
18	55230224	A	C	18	57562992	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0455899344172985	0.32
18	55230224	A	G	18	57562992	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.26592805782583E-4	0.022
18	55230224	A	T	18	57562992	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999957856067135	0.99
18	55233671	G	A	18	57566439	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.19332324971095E-5	0.0
18	55233671	G	C	18	57566439	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.19332324971095E-5	0.0
18	55233671	G	T	18	57566439	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.19332324971095E-5	0.008
18	55233672	C	A	18	57566440	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.25174383013797E-5	0.004
18	55233672	C	G	18	57566440	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.09307212366592E-5	0.006
18	55233672	C	T	18	57566440	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.09307212366592E-5	0.006
18	55233673	C	A	18	57566441	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.02340138519214E-5	0.002
18	55233673	C	G	18	57566441	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.4678450692654E-4	0.026
18	55233673	C	T	18	57566441	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.77268357951317E-4	0.004
18	55233674	C	A	18	57566442	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.814334393008915	0.6
18	55233674	C	G	18	57566442	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.357136125957674	0.522
18	55233674	C	T	18	57566442	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.900578392875472	0.62
18	55233675	T	A	18	57566443	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0547981425513758	0.248
18	55233675	T	C	18	57566443	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.136814041749442	0.316
18	55233675	T	G	18	57566443	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0408925366619906	0.292
18	55233676	T	A	18	57566444	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.780914281247441	0.612
18	55233676	T	C	18	57566444	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0168359667523614	0.136
18	55233676	T	G	18	57566444	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.963876049967848	0.664
18	55233677	A	C	18	57566445	y	y	splicing	FECH(NM_000140:exon6:c.598+2T>G;NM_001012515:exon6:c.616+2T>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.598+2T>G;ENST00000382873:exon6:c.616+2T>G;ENST00000585494:exon6:c.661+2T>G;ENST00000592699:exon6:c.598+2T>G)	.	.	0.999988247793601	0.93
18	55233677	A	G	18	57566445	y	y	splicing	FECH(NM_000140:exon6:c.598+2T>C;NM_001012515:exon6:c.616+2T>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.598+2T>C;ENST00000382873:exon6:c.616+2T>C;ENST00000585494:exon6:c.661+2T>C;ENST00000592699:exon6:c.598+2T>C)	.	.	0.99340600729494	0.674
18	55233677	A	T	18	57566445	y	y	splicing	FECH(NM_000140:exon6:c.598+2T>A;NM_001012515:exon6:c.616+2T>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.598+2T>A;ENST00000382873:exon6:c.616+2T>A;ENST00000585494:exon6:c.661+2T>A;ENST00000592699:exon6:c.598+2T>A)	.	.	0.999988247793601	0.93
18	55233678	C	A	18	57566446	y	y	splicing	FECH(NM_000140:exon6:c.598+1G>T;NM_001012515:exon6:c.616+1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.598+1G>T;ENST00000382873:exon6:c.616+1G>T;ENST00000585494:exon6:c.661+1G>T;ENST00000592699:exon6:c.598+1G>T)	.	.	0.999985532734767	0.938
18	55233678	C	G	18	57566446	y	y	splicing	FECH(NM_000140:exon6:c.598+1G>C;NM_001012515:exon6:c.616+1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.598+1G>C;ENST00000382873:exon6:c.616+1G>C;ENST00000585494:exon6:c.661+1G>C;ENST00000592699:exon6:c.598+1G>C)	.	.	0.999985532734767	0.938
18	55233678	C	T	18	57566446	y	y	splicing	FECH(NM_000140:exon6:c.598+1G>A;NM_001012515:exon6:c.616+1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.598+1G>A;ENST00000382873:exon6:c.616+1G>A;ENST00000585494:exon6:c.661+1G>A;ENST00000592699:exon6:c.598+1G>A)	.	.	0.999985532734767	0.938
18	55233679	C	A	18	57566447	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.G616T:p.G206C;FECH:NM_000140:exon5:c.G598T:p.G200C;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.G598T:p.G200C;ENSG00000066926:ENST00000262093:exon5:c.G598T:p.G200C;ENSG00000066926:ENST00000382873:exon5:c.G616T:p.G206C;	0.999910230281195	0.96
18	55233679	C	G	18	57566447	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.G616C:p.G206R;FECH:NM_000140:exon5:c.G598C:p.G200R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.G598C:p.G200R;ENSG00000066926:ENST00000262093:exon5:c.G598C:p.G200R;ENSG00000066926:ENST00000382873:exon5:c.G616C:p.G206R;	0.999941902093875	0.936
18	55233679	C	T	18	57566447	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.G616A:p.G206S;FECH:NM_000140:exon5:c.G598A:p.G200S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.G598A:p.G200S;ENSG00000066926:ENST00000262093:exon5:c.G598A:p.G200S;ENSG00000066926:ENST00000382873:exon5:c.G616A:p.G206S;	0.999869819302388	0.944
18	55233680	T	A	18	57566448	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon5:c.A615T:p.T205T;FECH:NM_000140:exon5:c.A597T:p.T199T;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.A597T:p.T199T;ENSG00000066926:ENST00000262093:exon5:c.A597T:p.T199T;ENSG00000066926:ENST00000382873:exon5:c.A615T:p.T205T;	0.186350846929538	0.444
18	55233680	T	C	18	57566448	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon5:c.A615G:p.T205T;FECH:NM_000140:exon5:c.A597G:p.T199T;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.A597G:p.T199T;ENSG00000066926:ENST00000262093:exon5:c.A597G:p.T199T;ENSG00000066926:ENST00000382873:exon5:c.A615G:p.T205T;	0.322712958924229	0.478
18	55233680	T	G	18	57566448	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon5:c.A615C:p.T205T;FECH:NM_000140:exon5:c.A597C:p.T199T;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.A597C:p.T199T;ENSG00000066926:ENST00000262093:exon5:c.A597C:p.T199T;ENSG00000066926:ENST00000382873:exon5:c.A615C:p.T205T;	0.314704371178034	0.568
18	55233681	G	A	18	57566449	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.C614T:p.T205I;FECH:NM_000140:exon5:c.C596T:p.T199I;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C596T:p.T199I;ENSG00000066926:ENST00000262093:exon5:c.C596T:p.T199I;ENSG00000066926:ENST00000382873:exon5:c.C614T:p.T205I;	0.998821168938511	0.752
18	55233681	G	C	18	57566449	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.C614G:p.T205R;FECH:NM_000140:exon5:c.C596G:p.T199R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C596G:p.T199R;ENSG00000066926:ENST00000262093:exon5:c.C596G:p.T199R;ENSG00000066926:ENST00000382873:exon5:c.C614G:p.T205R;	0.92945428139345	0.642
18	55233681	G	T	18	57566449	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.C614A:p.T205K;FECH:NM_000140:exon5:c.C596A:p.T199K;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C596A:p.T199K;ENSG00000066926:ENST00000262093:exon5:c.C596A:p.T199K;ENSG00000066926:ENST00000382873:exon5:c.C614A:p.T205K;	0.965012257316836	0.816
18	55233812	G	A	18	57566580	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon5:c.C483T:p.A161A;FECH:NM_000140:exon5:c.C465T:p.A155A;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C465T:p.A155A;ENSG00000066926:ENST00000262093:exon5:c.C465T:p.A155A;ENSG00000066926:ENST00000591215:exon6:c.C249T:p.A83A;ENSG00000066926:ENST00000382873:exon5:c.C483T:p.A161A;	1.40587774774137E-4	0.082
18	55233812	G	C	18	57566580	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon5:c.C483G:p.A161A;FECH:NM_000140:exon5:c.C465G:p.A155A;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C465G:p.A155A;ENSG00000066926:ENST00000262093:exon5:c.C465G:p.A155A;ENSG00000066926:ENST00000591215:exon6:c.C249G:p.A83A;ENSG00000066926:ENST00000382873:exon5:c.C483G:p.A161A;	1.81978013792955E-4	0.02
18	55233812	G	T	18	57566580	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon5:c.C483A:p.A161A;FECH:NM_000140:exon5:c.C465A:p.A155A;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C465A:p.A155A;ENSG00000066926:ENST00000262093:exon5:c.C465A:p.A155A;ENSG00000066926:ENST00000591215:exon6:c.C249A:p.A83A;ENSG00000066926:ENST00000382873:exon5:c.C483A:p.A161A;	0.00259818338805298	0.176
18	55233813	G	A	18	57566581	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.C482T:p.A161V;FECH:NM_000140:exon5:c.C464T:p.A155V;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C464T:p.A155V;ENSG00000066926:ENST00000262093:exon5:c.C464T:p.A155V;ENSG00000066926:ENST00000591215:exon6:c.C248T:p.A83V;ENSG00000066926:ENST00000382873:exon5:c.C482T:p.A161V;	0.997036012893959	0.922
18	55233813	G	C	18	57566581	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.C482G:p.A161G;FECH:NM_000140:exon5:c.C464G:p.A155G;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C464G:p.A155G;ENSG00000066926:ENST00000262093:exon5:c.C464G:p.A155G;ENSG00000066926:ENST00000591215:exon6:c.C248G:p.A83G;ENSG00000066926:ENST00000382873:exon5:c.C482G:p.A161G;	0.956547421090368	0.69
18	55233813	G	T	18	57566581	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon5:c.C482A:p.A161D;FECH:NM_000140:exon5:c.C464A:p.A155D;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000592699:exon5:c.C464A:p.A155D;ENSG00000066926:ENST00000262093:exon5:c.C464A:p.A155D;ENSG00000066926:ENST00000591215:exon6:c.C248A:p.A83D;ENSG00000066926:ENST00000382873:exon5:c.C482A:p.A161D;	0.940767941135689	0.796
18	55233814	C	A	18	57566582	y	y	splicing	FECH(NM_000140:exon6:c.464-1G>T;NM_001012515:exon6:c.482-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.464-1G>T;ENST00000382873:exon6:c.482-1G>T;ENST00000585494:exon6:c.527-1G>T;ENST00000592699:exon6:c.464-1G>T;ENST00000591215:exon7:c.248-1G>T)	.	.	0.999983677848485	0.942
18	55233814	C	G	18	57566582	y	y	splicing	FECH(NM_000140:exon6:c.464-1G>C;NM_001012515:exon6:c.482-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.464-1G>C;ENST00000382873:exon6:c.482-1G>C;ENST00000585494:exon6:c.527-1G>C;ENST00000592699:exon6:c.464-1G>C;ENST00000591215:exon7:c.248-1G>C)	.	.	0.999983677848485	0.942
18	55233814	C	T	18	57566582	y	y	splicing	FECH(NM_000140:exon6:c.464-1G>A;NM_001012515:exon6:c.482-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.464-1G>A;ENST00000382873:exon6:c.482-1G>A;ENST00000585494:exon6:c.527-1G>A;ENST00000592699:exon6:c.464-1G>A;ENST00000591215:exon7:c.248-1G>A)	.	.	0.999983677848485	0.942
18	55233815	T	A	18	57566583	y	y	splicing	FECH(NM_000140:exon6:c.464-2A>T;NM_001012515:exon6:c.482-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.464-2A>T;ENST00000382873:exon6:c.482-2A>T;ENST00000585494:exon6:c.527-2A>T;ENST00000592699:exon6:c.464-2A>T;ENST00000591215:exon7:c.248-2A>T)	.	.	0.999986741007567	0.944
18	55233815	T	C	18	57566583	y	y	splicing	FECH(NM_000140:exon6:c.464-2A>G;NM_001012515:exon6:c.482-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.464-2A>G;ENST00000382873:exon6:c.482-2A>G;ENST00000585494:exon6:c.527-2A>G;ENST00000592699:exon6:c.464-2A>G;ENST00000591215:exon7:c.248-2A>G)	.	.	0.999986741007567	0.944
18	55233815	T	G	18	57566583	y	y	splicing	FECH(NM_000140:exon6:c.464-2A>C;NM_001012515:exon6:c.482-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon6:c.464-2A>C;ENST00000382873:exon6:c.482-2A>C;ENST00000585494:exon6:c.527-2A>C;ENST00000592699:exon6:c.464-2A>C;ENST00000591215:exon7:c.248-2A>C)	.	.	0.999986741007567	0.944
18	55233816	A	C	18	57566584	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.50349226996905	0.552
18	55233816	A	G	18	57566584	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.20744360763322E-4	0.03
18	55233816	A	T	18	57566584	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00238180846287549	0.198
18	55233817	T	A	18	57566585	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00373611940358471	0.08
18	55233817	T	C	18	57566585	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999601300581723	0.982
18	55233817	T	G	18	57566585	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00200431540885238	0.082
18	55233818	T	A	18	57566586	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.66354726227084E-5	0.048
18	55233818	T	C	18	57566586	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.81798835737371E-5	0.0
18	55233818	T	G	18	57566586	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.05828984940684E-5	0.0
18	55233819	A	C	18	57566587	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0294115385423763	0.498
18	55233819	A	G	18	57566587	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.06612242192743E-4	0.046
18	55233819	A	T	18	57566587	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0214551391565456	0.47
18	55233820	G	A	18	57566588	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.7232468883792E-4	0.048
18	55233820	G	C	18	57566588	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.201146880581847	0.466
18	55233820	G	T	18	57566588	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.334762914715636	0.504
18	55233821	G	A	18	57566589	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.00946294537795E-4	0.0
18	55233821	G	C	18	57566589	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00831052837766157	0.236
18	55233821	G	T	18	57566589	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00526613781476513	0.22
18	55233822	A	C	18	57566590	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0778878572291969	0.52
18	55233822	A	G	18	57566590	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00492392311039017	0.09
18	55233822	A	T	18	57566590	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.96731024292963	0.7
18	55233823	A	C	18	57566591	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0517196739339764	0.532
18	55233823	A	G	18	57566591	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.93584977703711E-4	0.11
18	55233823	A	T	18	57566591	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.506083713226478	0.612
18	55233824	G	A	18	57566592	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.82769786829027E-5	0.004
18	55233824	G	C	18	57566592	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.47604733780046E-4	0.078
18	55233824	G	T	18	57566592	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.93045307085263E-4	0.074
18	55233825	C	A	18	57566593	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.06635931399981E-5	0.014
18	55233825	C	G	18	57566593	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.56013096552236E-5	0.008
18	55233825	C	T	18	57566593	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.39685558069778E-4	0.02
18	55235107	T	A	18	57567875	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon5:c.A465T:p.V155V;	5.15941453541388E-5	0.002
18	55235107	T	C	18	57567875	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon5:c.A465G:p.V155V;	5.15941453541388E-5	0.002
18	55235107	T	G	18	57567875	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon5:c.A465C:p.V155V;	5.15941453541388E-5	0.002
18	55235108	A	C	18	57567876	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon5:c.T464G:p.V155G;	4.7586829694842E-5	0.0
18	55235108	A	G	18	57567876	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon5:c.T464C:p.V155A;	4.7586829694842E-5	0.0
18	55235108	A	T	18	57567876	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon5:c.T464A:p.V155E;	8.64905445396362E-5	0.0
18	55235109	C	A	18	57567877	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585747:exon6:c.464-1G>T)	.	.	7.17029124203775E-5	0.0
18	55235109	C	G	18	57567877	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585747:exon6:c.464-1G>C)	.	.	7.17029124203775E-5	0.0
18	55235109	C	T	18	57567877	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585747:exon6:c.464-1G>A)	.	.	7.17029124203775E-5	0.0
18	55235110	T	A	18	57567878	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585747:exon6:c.464-2A>T)	.	.	6.38113264713725E-5	0.012
18	55235110	T	C	18	57567878	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585747:exon6:c.464-2A>G)	.	.	6.38113264713725E-5	0.012
18	55235110	T	G	18	57567878	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585747:exon6:c.464-2A>C)	.	.	6.38113264713725E-5	0.012
18	55235111	G	A	18	57567879	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.51383879749987E-5	0.0
18	55235111	G	C	18	57567879	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.51383879749987E-5	0.0
18	55235111	G	T	18	57567879	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.51383879749987E-5	0.0
18	55235112	C	A	18	57567880	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.5364181533214E-5	0.0
18	55235112	C	G	18	57567880	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.27456659313109E-5	0.0
18	55235112	C	T	18	57567880	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.5364181533214E-5	0.0
18	55235113	A	C	18	57567881	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.60947442822834E-5	0.0
18	55235113	A	G	18	57567881	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.60947442822834E-5	0.0
18	55235113	A	T	18	57567881	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.60947442822834E-5	0.0
18	55235114	A	C	18	57567882	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.24975915077222E-5	0.0
18	55235114	A	G	18	57567882	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.24975915077222E-5	0.0
18	55235114	A	T	18	57567882	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.24975915077222E-5	0.0
18	55235115	A	C	18	57567883	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.49551173556722E-4	0.014
18	55235115	A	G	18	57567883	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.49551173556722E-4	0.014
18	55235115	A	T	18	57567883	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00140830567855165	0.016
18	55235116	A	C	18	57567884	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.95853904142978E-5	0.002
18	55235116	A	G	18	57567884	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.95853904142978E-5	0.002
18	55235116	A	T	18	57567884	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.48893788513386E-5	0.002
18	55235117	A	C	18	57567885	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.48893788513386E-5	0.002
18	55235117	A	G	18	57567885	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.48893788513386E-5	0.002
18	55235117	A	T	18	57567885	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.48893788513386E-5	0.002
18	55235118	A	C	18	57567886	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.18560473596719E-5	0.002
18	55235118	A	G	18	57567886	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.18560473596719E-5	0.002
18	55235118	A	T	18	57567886	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.18560473596719E-5	0.0
18	55235119	G	A	18	57567887	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.52932449848953E-5	0.002
18	55235119	G	C	18	57567887	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.52932449848953E-5	0.002
18	55235119	G	T	18	57567887	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.52932449848953E-5	0.002
18	55235120	A	C	18	57567888	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.38118228050303E-4	0.006
18	55235120	A	G	18	57567888	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.38118228050303E-4	0.006
18	55235120	A	T	18	57567888	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.16905836748777E-4	0.006
18	55238616	C	A	18	57571384	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.02418137621806E-5	0.01
18	55238616	C	G	18	57571384	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.0396804330695E-5	0.006
18	55238616	C	T	18	57571384	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.02418137621806E-5	0.004
18	55238617	A	C	18	57571385	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.83797748812033E-5	0.002
18	55238617	A	G	18	57571385	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.17727136328101E-5	0.0
18	55238617	A	T	18	57571385	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.67714557557337E-5	0.0
18	55238618	C	A	18	57571386	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.06766316162436E-5	0.0
18	55238618	C	G	18	57571386	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.27752611119607E-5	0.002
18	55238618	C	T	18	57571386	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.34406566645202E-5	0.004
18	55238619	C	A	18	57571387	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.484674640923703	0.472
18	55238619	C	G	18	57571387	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.403424303295167	0.524
18	55238619	C	T	18	57571387	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.311256478323854	0.524
18	55238620	A	C	18	57571388	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.07968633845039E-5	0.006
18	55238620	A	G	18	57571388	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.36030977490178E-5	0.0
18	55238620	A	T	18	57571388	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.60064322329012E-4	0.094
18	55238621	T	A	18	57571389	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.992617535056019	0.77
18	55238621	T	C	18	57571389	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.961518855972332	0.718
18	55238621	T	G	18	57571389	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.995023393340875	0.836
18	55238622	A	C	18	57571390	y	y	splicing	FECH(NM_000140:exon5:c.463+2T>G;NM_001012515:exon5:c.481+2T>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.463+2T>G;ENST00000382873:exon5:c.481+2T>G;ENST00000585494:exon5:c.526+2T>G;ENST00000592699:exon5:c.463+2T>G;ENST00000591215:exon6:c.247+2T>G;ENST00000585747:exon5:c.463+2T>G)	.	.	0.999981808176352	0.918
18	55238622	A	G	18	57571390	y	y	splicing	FECH(NM_000140:exon5:c.463+2T>C;NM_001012515:exon5:c.481+2T>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.463+2T>C;ENST00000382873:exon5:c.481+2T>C;ENST00000585494:exon5:c.526+2T>C;ENST00000592699:exon5:c.463+2T>C;ENST00000591215:exon6:c.247+2T>C;ENST00000585747:exon5:c.463+2T>C)	.	.	0.983076175702873	0.552
18	55238622	A	T	18	57571390	y	y	splicing	FECH(NM_000140:exon5:c.463+2T>A;NM_001012515:exon5:c.481+2T>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.463+2T>A;ENST00000382873:exon5:c.481+2T>A;ENST00000585494:exon5:c.526+2T>A;ENST00000592699:exon5:c.463+2T>A;ENST00000591215:exon6:c.247+2T>A;ENST00000585747:exon5:c.463+2T>A)	.	.	0.999981808176352	0.918
18	55238623	C	A	18	57571391	y	y	splicing	FECH(NM_000140:exon5:c.463+1G>T;NM_001012515:exon5:c.481+1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.463+1G>T;ENST00000382873:exon5:c.481+1G>T;ENST00000585494:exon5:c.526+1G>T;ENST00000592699:exon5:c.463+1G>T;ENST00000591215:exon6:c.247+1G>T;ENST00000585747:exon5:c.463+1G>T)	.	.	0.999989072007339	0.934
18	55238623	C	G	18	57571391	y	y	splicing	FECH(NM_000140:exon5:c.463+1G>C;NM_001012515:exon5:c.481+1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.463+1G>C;ENST00000382873:exon5:c.481+1G>C;ENST00000585494:exon5:c.526+1G>C;ENST00000592699:exon5:c.463+1G>C;ENST00000591215:exon6:c.247+1G>C;ENST00000585747:exon5:c.463+1G>C)	.	.	0.999989072007339	0.934
18	55238623	C	T	18	57571391	y	y	splicing	FECH(NM_000140:exon5:c.463+1G>A;NM_001012515:exon5:c.481+1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.463+1G>A;ENST00000382873:exon5:c.481+1G>A;ENST00000585494:exon5:c.526+1G>A;ENST00000592699:exon5:c.463+1G>A;ENST00000591215:exon6:c.247+1G>A;ENST00000585747:exon5:c.463+1G>A)	.	.	0.999989072007339	0.934
18	55238624	C	A	18	57571392	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.G481T:p.A161S;FECH:NM_000140:exon4:c.G463T:p.A155S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.G463T:p.V155L;ENSG00000066926:ENST00000592699:exon4:c.G463T:p.A155S;ENSG00000066926:ENST00000262093:exon4:c.G463T:p.A155S;ENSG00000066926:ENST00000591215:exon5:c.G247T:p.A83S;ENSG00000066926:ENST00000382873:exon4:c.G481T:p.A161S;	0.999987548428631	0.992
18	55238624	C	G	18	57571392	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.G481C:p.A161P;FECH:NM_000140:exon4:c.G463C:p.A155P;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.G463C:p.V155L;ENSG00000066926:ENST00000592699:exon4:c.G463C:p.A155P;ENSG00000066926:ENST00000262093:exon4:c.G463C:p.A155P;ENSG00000066926:ENST00000591215:exon5:c.G247C:p.A83P;ENSG00000066926:ENST00000382873:exon4:c.G481C:p.A161P;	0.999996841290077	1.0
18	55238624	C	T	18	57571392	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.G481A:p.A161T;FECH:NM_000140:exon4:c.G463A:p.A155T;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.G463A:p.V155I;ENSG00000066926:ENST00000592699:exon4:c.G463A:p.A155T;ENSG00000066926:ENST00000262093:exon4:c.G463A:p.A155T;ENSG00000066926:ENST00000591215:exon5:c.G247A:p.A83T;ENSG00000066926:ENST00000382873:exon4:c.G481A:p.A161T;	0.999988421950818	0.998
18	55238625	T	A	18	57571393	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon4:c.A480T:p.T160T;FECH:NM_000140:exon4:c.A462T:p.T154T;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.A462T:p.T154T;ENSG00000066926:ENST00000592699:exon4:c.A462T:p.T154T;ENSG00000066926:ENST00000262093:exon4:c.A462T:p.T154T;ENSG00000066926:ENST00000591215:exon5:c.A246T:p.T82T;ENSG00000066926:ENST00000382873:exon4:c.A480T:p.T160T;	0.96971264087047	0.836
18	55238625	T	C	18	57571393	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon4:c.A480G:p.T160T;FECH:NM_000140:exon4:c.A462G:p.T154T;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.A462G:p.T154T;ENSG00000066926:ENST00000592699:exon4:c.A462G:p.T154T;ENSG00000066926:ENST00000262093:exon4:c.A462G:p.T154T;ENSG00000066926:ENST00000591215:exon5:c.A246G:p.T82T;ENSG00000066926:ENST00000382873:exon4:c.A480G:p.T160T;	0.789374928096691	0.594
18	55238625	T	G	18	57571393	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon4:c.A480C:p.T160T;FECH:NM_000140:exon4:c.A462C:p.T154T;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.A462C:p.T154T;ENSG00000066926:ENST00000592699:exon4:c.A462C:p.T154T;ENSG00000066926:ENST00000262093:exon4:c.A462C:p.T154T;ENSG00000066926:ENST00000591215:exon5:c.A246C:p.T82T;ENSG00000066926:ENST00000382873:exon4:c.A480C:p.T160T;	0.767022351621339	0.662
18	55238626	G	A	18	57571394	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.C479T:p.T160I;FECH:NM_000140:exon4:c.C461T:p.T154I;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.C461T:p.T154I;ENSG00000066926:ENST00000592699:exon4:c.C461T:p.T154I;ENSG00000066926:ENST00000262093:exon4:c.C461T:p.T154I;ENSG00000066926:ENST00000591215:exon5:c.C245T:p.T82I;ENSG00000066926:ENST00000382873:exon4:c.C479T:p.T160I;	0.998813648630236	0.938
18	55238626	G	C	18	57571394	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.C479G:p.T160R;FECH:NM_000140:exon4:c.C461G:p.T154R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.C461G:p.T154R;ENSG00000066926:ENST00000592699:exon4:c.C461G:p.T154R;ENSG00000066926:ENST00000262093:exon4:c.C461G:p.T154R;ENSG00000066926:ENST00000591215:exon5:c.C245G:p.T82R;ENSG00000066926:ENST00000382873:exon4:c.C479G:p.T160R;	0.923064663701089	0.64
18	55238626	G	T	18	57571394	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.C479A:p.T160K;FECH:NM_000140:exon4:c.C461A:p.T154K;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.C461A:p.T154K;ENSG00000066926:ENST00000592699:exon4:c.C461A:p.T154K;ENSG00000066926:ENST00000262093:exon4:c.C461A:p.T154K;ENSG00000066926:ENST00000591215:exon5:c.C245A:p.T82K;ENSG00000066926:ENST00000382873:exon4:c.C479A:p.T160K;	0.946794831901684	0.792
18	55238771	T	A	18	57571539	y	y	exonic	FECH	stopgain SNV	FECH:NM_001012515:exon4:c.A334T:p.K112X;FECH:NM_000140:exon4:c.A316T:p.K106X;	exonic	ENSG00000066926	stopgain SNV	ENSG00000066926:ENST00000585747:exon4:c.A316T:p.K106X;ENSG00000066926:ENST00000592699:exon4:c.A316T:p.K106X;ENSG00000066926:ENST00000262093:exon4:c.A316T:p.K106X;ENSG00000066926:ENST00000591215:exon5:c.A100T:p.K34X;ENSG00000066926:ENST00000382873:exon4:c.A334T:p.K112X;	0.842197603149147	0.806
18	55238771	T	C	18	57571539	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.A334G:p.K112E;FECH:NM_000140:exon4:c.A316G:p.K106E;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.A316G:p.K106E;ENSG00000066926:ENST00000592699:exon4:c.A316G:p.K106E;ENSG00000066926:ENST00000262093:exon4:c.A316G:p.K106E;ENSG00000066926:ENST00000591215:exon5:c.A100G:p.K34E;ENSG00000066926:ENST00000382873:exon4:c.A334G:p.K112E;	0.713298893249251	0.458
18	55238771	T	G	18	57571539	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.A334C:p.K112Q;FECH:NM_000140:exon4:c.A316C:p.K106Q;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.A316C:p.K106Q;ENSG00000066926:ENST00000592699:exon4:c.A316C:p.K106Q;ENSG00000066926:ENST00000262093:exon4:c.A316C:p.K106Q;ENSG00000066926:ENST00000591215:exon5:c.A100C:p.K34Q;ENSG00000066926:ENST00000382873:exon4:c.A334C:p.K112Q;	0.788587927735957	0.66
18	55238772	A	C	18	57571540	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.T333G:p.N111K;FECH:NM_000140:exon4:c.T315G:p.N105K;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.T315G:p.N105K;ENSG00000066926:ENST00000592699:exon4:c.T315G:p.N105K;ENSG00000066926:ENST00000262093:exon4:c.T315G:p.N105K;ENSG00000066926:ENST00000591215:exon5:c.T99G:p.N33K;ENSG00000066926:ENST00000382873:exon4:c.T333G:p.N111K;	5.81374995550464E-4	0.148
18	55238772	A	G	18	57571540	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon4:c.T333C:p.N111N;FECH:NM_000140:exon4:c.T315C:p.N105N;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.T315C:p.N105N;ENSG00000066926:ENST00000592699:exon4:c.T315C:p.N105N;ENSG00000066926:ENST00000262093:exon4:c.T315C:p.N105N;ENSG00000066926:ENST00000591215:exon5:c.T99C:p.N33N;ENSG00000066926:ENST00000382873:exon4:c.T333C:p.N111N;	3.73115887989198E-4	0.096
18	55238772	A	T	18	57571540	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon4:c.T333A:p.N111K;FECH:NM_000140:exon4:c.T315A:p.N105K;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon4:c.T315A:p.N105K;ENSG00000066926:ENST00000592699:exon4:c.T315A:p.N105K;ENSG00000066926:ENST00000262093:exon4:c.T315A:p.N105K;ENSG00000066926:ENST00000591215:exon5:c.T99A:p.N33K;ENSG00000066926:ENST00000382873:exon4:c.T333A:p.N111K;	1.92463640513591E-4	0.068
18	55238773	C	A	18	57571541	y	y	splicing	FECH(NM_000140:exon5:c.315-1G>T;NM_001012515:exon5:c.333-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.315-1G>T;ENST00000382873:exon5:c.333-1G>T;ENST00000592699:exon5:c.315-1G>T;ENST00000591215:exon6:c.99-1G>T;ENST00000585747:exon5:c.315-1G>T)	.	.	0.999978115769202	0.882
18	55238773	C	G	18	57571541	y	y	splicing	FECH(NM_000140:exon5:c.315-1G>C;NM_001012515:exon5:c.333-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.315-1G>C;ENST00000382873:exon5:c.333-1G>C;ENST00000592699:exon5:c.315-1G>C;ENST00000591215:exon6:c.99-1G>C;ENST00000585747:exon5:c.315-1G>C)	.	.	0.999978115769202	0.882
18	55238773	C	T	18	57571541	y	y	splicing	FECH(NM_000140:exon5:c.315-1G>A;NM_001012515:exon5:c.333-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.315-1G>A;ENST00000382873:exon5:c.333-1G>A;ENST00000592699:exon5:c.315-1G>A;ENST00000591215:exon6:c.99-1G>A;ENST00000585747:exon5:c.315-1G>A)	.	.	0.999978115769202	0.882
18	55238774	T	A	18	57571542	y	y	splicing	FECH(NM_000140:exon5:c.315-2A>T;NM_001012515:exon5:c.333-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.315-2A>T;ENST00000382873:exon5:c.333-2A>T;ENST00000592699:exon5:c.315-2A>T;ENST00000591215:exon6:c.99-2A>T;ENST00000585747:exon5:c.315-2A>T)	.	.	0.999914511980801	0.884
18	55238774	T	C	18	57571542	y	y	splicing	FECH(NM_000140:exon5:c.315-2A>G;NM_001012515:exon5:c.333-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.315-2A>G;ENST00000382873:exon5:c.333-2A>G;ENST00000592699:exon5:c.315-2A>G;ENST00000591215:exon6:c.99-2A>G;ENST00000585747:exon5:c.315-2A>G)	.	.	0.999914511980801	0.882
18	55238774	T	G	18	57571542	y	y	splicing	FECH(NM_000140:exon5:c.315-2A>C;NM_001012515:exon5:c.333-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon5:c.315-2A>C;ENST00000382873:exon5:c.333-2A>C;ENST00000592699:exon5:c.315-2A>C;ENST00000591215:exon6:c.99-2A>C;ENST00000585747:exon5:c.315-2A>C)	.	.	0.999914511980801	0.884
18	55238775	A	C	18	57571543	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.836638461129011	0.584
18	55238775	A	G	18	57571543	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	2.61206796271697E-4	0.068
18	55238775	A	T	18	57571543	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.552866552724018	0.514
18	55238776	A	C	18	57571544	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.0121387259504675	0.106
18	55238776	A	G	18	57571544	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	3.97954110148321E-4	0.088
18	55238776	A	T	18	57571544	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.0439912457220133	0.132
18	55238777	A	C	18	57571545	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.999692764996899	0.91
18	55238777	A	G	18	57571545	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.402313097694809	0.452
18	55238777	A	T	18	57571545	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.996277709344107	0.876
18	55238778	T	A	18	57571546	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	1.01705569775952E-4	0.04
18	55238778	T	C	18	57571546	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	1.05788032610122E-4	0.004
18	55238778	T	G	18	57571546	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	6.39483221503087E-5	0.094
18	55238779	C	A	18	57571547	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	3.07347595564748E-5	0.024
18	55238779	C	G	18	57571547	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	3.26820082565274E-5	0.002
18	55238779	C	T	18	57571547	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	5.16437463502183E-5	0.0
18	55238780	A	C	18	57571548	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.99902438810126	0.984
18	55238780	A	G	18	57571548	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.00368087097661536	0.068
18	55238780	A	T	18	57571548	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.999276485314095	0.982
18	55238781	T	A	18	57571549	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.00303506851975841	0.076
18	55238781	T	C	18	57571549	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.997066816066766	0.876
18	55238781	T	G	18	57571549	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.00198263671725367	0.046
18	55238782	T	A	18	57571550	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.00297694907871834	0.09
18	55238782	T	C	18	57571550	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.997950016303108	0.882
18	55238782	T	G	18	57571550	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	6.28134997249325E-4	0.06
18	55238783	T	A	18	57571551	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	6.64693922609487E-5	0.056
18	55238783	T	C	18	57571551	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	1.58439536247453E-5	0.014
18	55238783	T	G	18	57571551	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	2.03658803483048E-5	0.008
18	55238784	A	C	18	57571552	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.364666481507877	0.608
18	55238784	A	G	18	57571552	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	3.09587362060976E-4	0.172
18	55238784	A	T	18	57571552	y	y	intronic	FECH	.	.	UTR3	ENSG00000066926	.	.	0.466074468742229	0.64
18	55238834	T	A	18	57571602	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	stopgain SNV	ENSG00000066926:ENST00000585494:exon4:c.A316T:p.K106X;	6.76066823600085E-5	0.05
18	55238834	T	C	18	57571602	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585494:exon4:c.A316G:p.K106E;	6.76066823600085E-5	0.05
18	55238834	T	G	18	57571602	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585494:exon4:c.A316C:p.K106Q;	6.76066823600085E-5	0.05
18	55238835	T	A	18	57571603	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585494:exon4:c.A315T:p.K105N;	3.80109675654916E-5	0.008
18	55238835	T	C	18	57571603	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585494:exon4:c.A315G:p.K105K;	5.08291490468438E-5	0.006
18	55238835	T	G	18	57571603	n	y	intronic	FECH	.	.	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585494:exon4:c.A315C:p.K105N;	5.08291490468438E-5	0.006
18	55238836	C	A	18	57571604	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585494:exon5:c.315-1G>T)	.	.	6.00043844550976E-5	0.018
18	55238836	C	G	18	57571604	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585494:exon5:c.315-1G>C)	.	.	6.00043844550976E-5	0.018
18	55238836	C	T	18	57571604	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585494:exon5:c.315-1G>A)	.	.	6.00043844550976E-5	0.018
18	55238837	T	A	18	57571605	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585494:exon5:c.315-2A>T)	.	.	0.00218573848948825	0.02
18	55238837	T	C	18	57571605	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585494:exon5:c.315-2A>G)	.	.	0.00184422796046697	0.022
18	55238837	T	G	18	57571605	n	y	intronic	FECH	.	.	splicing	ENSG00000066926(ENST00000585494:exon5:c.315-2A>C)	.	.	0.00184422796046697	0.02
18	55238838	A	C	18	57571606	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.18084399931133E-4	0.012
18	55238838	A	G	18	57571606	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.18084399931133E-4	0.006
18	55238838	A	T	18	57571606	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.18084399931133E-4	0.002
18	55238839	C	A	18	57571607	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.44101454748109E-4	0.008
18	55238839	C	G	18	57571607	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.09069125317345E-4	0.012
18	55238839	C	T	18	57571607	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.00961143325455E-4	0.028
18	55238840	T	A	18	57571608	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00628703870124088	0.018
18	55238840	T	C	18	57571608	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00425715133277217	0.018
18	55238840	T	G	18	57571608	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00425715133277217	0.018
18	55238841	C	A	18	57571609	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0116965926961208	0.024
18	55238841	C	G	18	57571609	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0116965926961208	0.022
18	55238841	C	T	18	57571609	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0116965926961208	0.028
18	55238842	A	C	18	57571610	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.10714322530515E-4	0.022
18	55238842	A	G	18	57571610	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.29446782330888E-5	0.012
18	55238842	A	T	18	57571610	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.75684941161229E-5	0.004
18	55238843	A	C	18	57571611	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.74263047865614E-4	0.002
18	55238843	A	G	18	57571611	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.74263047865614E-4	0.002
18	55238843	A	T	18	57571611	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.3271890069336E-4	0.002
18	55238844	T	A	18	57571612	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.43451853687658E-4	0.002
18	55238844	T	C	18	57571612	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.43451853687658E-4	0.002
18	55238844	T	G	18	57571612	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.43451853687658E-4	0.002
18	55238845	A	C	18	57571613	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.69439264402225E-5	0.0
18	55238845	A	G	18	57571613	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.15941453541388E-5	0.0
18	55238845	A	T	18	57571613	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.69439264402225E-5	0.0
18	55238846	A	C	18	57571614	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.69439264402225E-5	0.0
18	55238846	A	G	18	57571614	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.69439264402225E-5	0.0
18	55238846	A	T	18	57571614	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.69439264402225E-5	0.0
18	55238847	A	C	18	57571615	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.19523722086209E-5	0.0
18	55238847	A	G	18	57571615	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.62500938860321E-5	0.004
18	55238847	A	T	18	57571615	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.19523722086209E-5	0.0
18	55240470	T	A	18	57573238	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.09579474250486E-6	0.002
18	55240470	T	C	18	57573238	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.30081017321732E-6	0.0
18	55240470	T	G	18	57573238	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.30081017321732E-6	0.0
18	55240471	A	C	18	57573239	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.21230608383186E-4	0.01
18	55240471	A	G	18	57573239	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.67017475958691E-5	0.01
18	55240471	A	T	18	57573239	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.21208208027274E-4	0.05
18	55240472	T	A	18	57573240	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.1990364721285E-5	0.038
18	55240472	T	C	18	57573240	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.97745892425592E-5	0.026
18	55240472	T	G	18	57573240	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.37908036604949E-4	0.112
18	55240473	C	A	18	57573241	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999988660324445	0.948
18	55240473	C	G	18	57573241	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999988660324445	0.964
18	55240473	C	T	18	57573241	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999991257753766	0.962
18	55240474	T	A	18	57573242	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99919346681004	0.88
18	55240474	T	C	18	57573242	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99919346681004	0.868
18	55240474	T	G	18	57573242	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999792869998045	0.824
18	55240475	C	A	18	57573243	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.868258689407024	0.43
18	55240475	C	G	18	57573243	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.903576249744386	0.464
18	55240475	C	T	18	57573243	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.03304065575985E-5	0.004
18	55240476	A	C	18	57573244	y	y	splicing	FECH(NM_000140:exon4:c.314+2T>G;NM_001012515:exon4:c.332+2T>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.314+2T>G;ENST00000382873:exon4:c.332+2T>G;ENST00000585494:exon4:c.314+2T>G;ENST00000592699:exon4:c.314+2T>G;ENST00000591215:exon5:c.98+2T>G;ENST00000585747:exon4:c.314+2T>G)	.	.	0.999954785339841	0.89
18	55240476	A	G	18	57573244	y	y	splicing	FECH(NM_000140:exon4:c.314+2T>C;NM_001012515:exon4:c.332+2T>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.314+2T>C;ENST00000382873:exon4:c.332+2T>C;ENST00000585494:exon4:c.314+2T>C;ENST00000592699:exon4:c.314+2T>C;ENST00000591215:exon5:c.98+2T>C;ENST00000585747:exon4:c.314+2T>C)	.	.	0.999721410005594	0.832
18	55240476	A	T	18	57573244	y	y	splicing	FECH(NM_000140:exon4:c.314+2T>A;NM_001012515:exon4:c.332+2T>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.314+2T>A;ENST00000382873:exon4:c.332+2T>A;ENST00000585494:exon4:c.314+2T>A;ENST00000592699:exon4:c.314+2T>A;ENST00000591215:exon5:c.98+2T>A;ENST00000585747:exon4:c.314+2T>A)	.	.	0.999959626360342	0.902
18	55240477	C	A	18	57573245	y	y	splicing	FECH(NM_000140:exon4:c.314+1G>T;NM_001012515:exon4:c.332+1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.314+1G>T;ENST00000382873:exon4:c.332+1G>T;ENST00000585494:exon4:c.314+1G>T;ENST00000592699:exon4:c.314+1G>T;ENST00000591215:exon5:c.98+1G>T;ENST00000585747:exon4:c.314+1G>T)	.	.	0.999982627682474	0.902
18	55240477	C	G	18	57573245	y	y	splicing	FECH(NM_000140:exon4:c.314+1G>C;NM_001012515:exon4:c.332+1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.314+1G>C;ENST00000382873:exon4:c.332+1G>C;ENST00000585494:exon4:c.314+1G>C;ENST00000592699:exon4:c.314+1G>C;ENST00000591215:exon5:c.98+1G>C;ENST00000585747:exon4:c.314+1G>C)	.	.	0.999982627682474	0.902
18	55240477	C	T	18	57573245	y	y	splicing	FECH(NM_000140:exon4:c.314+1G>A;NM_001012515:exon4:c.332+1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.314+1G>A;ENST00000382873:exon4:c.332+1G>A;ENST00000585494:exon4:c.314+1G>A;ENST00000592699:exon4:c.314+1G>A;ENST00000591215:exon5:c.98+1G>A;ENST00000585747:exon4:c.314+1G>A)	.	.	0.999982627682474	0.902
18	55240478	T	A	18	57573246	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.A332T:p.N111I;FECH:NM_000140:exon3:c.A314T:p.N105I;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.A314T:p.N105I;ENSG00000066926:ENST00000592699:exon3:c.A314T:p.N105I;ENSG00000066926:ENST00000262093:exon3:c.A314T:p.N105I;ENSG00000066926:ENST00000585494:exon3:c.A314T:p.K105I;ENSG00000066926:ENST00000591215:exon4:c.A98T:p.N33I;ENSG00000066926:ENST00000382873:exon3:c.A332T:p.N111I;	0.0020622062259653	0.07
18	55240478	T	C	18	57573246	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.A332G:p.N111S;FECH:NM_000140:exon3:c.A314G:p.N105S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.A314G:p.N105S;ENSG00000066926:ENST00000592699:exon3:c.A314G:p.N105S;ENSG00000066926:ENST00000262093:exon3:c.A314G:p.N105S;ENSG00000066926:ENST00000585494:exon3:c.A314G:p.K105R;ENSG00000066926:ENST00000591215:exon4:c.A98G:p.N33S;ENSG00000066926:ENST00000382873:exon3:c.A332G:p.N111S;	9.09501951896687E-5	0.136
18	55240478	T	G	18	57573246	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.A332C:p.N111T;FECH:NM_000140:exon3:c.A314C:p.N105T;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.A314C:p.N105T;ENSG00000066926:ENST00000592699:exon3:c.A314C:p.N105T;ENSG00000066926:ENST00000262093:exon3:c.A314C:p.N105T;ENSG00000066926:ENST00000585494:exon3:c.A314C:p.K105T;ENSG00000066926:ENST00000591215:exon4:c.A98C:p.N33T;ENSG00000066926:ENST00000382873:exon3:c.A332C:p.N111T;	0.00145611333760722	0.322
18	55240479	T	A	18	57573247	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.A331T:p.N111Y;FECH:NM_000140:exon3:c.A313T:p.N105Y;	exonic	ENSG00000066926	stopgain SNV	ENSG00000066926:ENST00000585494:exon3:c.A313T:p.K105X;	0.996899490652276	0.846
18	55240479	T	C	18	57573247	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.A331G:p.N111D;FECH:NM_000140:exon3:c.A313G:p.N105D;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.A313G:p.N105D;ENSG00000066926:ENST00000592699:exon3:c.A313G:p.N105D;ENSG00000066926:ENST00000262093:exon3:c.A313G:p.N105D;ENSG00000066926:ENST00000585494:exon3:c.A313G:p.K105E;ENSG00000066926:ENST00000591215:exon4:c.A97G:p.N33D;ENSG00000066926:ENST00000382873:exon3:c.A331G:p.N111D;	0.996350315580619	0.876
18	55240479	T	G	18	57573247	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.A331C:p.N111H;FECH:NM_000140:exon3:c.A313C:p.N105H;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.A313C:p.N105H;ENSG00000066926:ENST00000592699:exon3:c.A313C:p.N105H;ENSG00000066926:ENST00000262093:exon3:c.A313C:p.N105H;ENSG00000066926:ENST00000585494:exon3:c.A313C:p.K105Q;ENSG00000066926:ENST00000591215:exon4:c.A97C:p.N33H;ENSG00000066926:ENST00000382873:exon3:c.A331C:p.N111H;	0.943556528217625	0.74
18	55240480	C	A	18	57573248	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.G330T:p.Q110H;FECH:NM_000140:exon3:c.G312T:p.Q104H;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.G312T:p.Q104H;ENSG00000066926:ENST00000592699:exon3:c.G312T:p.Q104H;ENSG00000066926:ENST00000262093:exon3:c.G312T:p.Q104H;ENSG00000066926:ENST00000585494:exon3:c.G312T:p.Q104H;ENSG00000066926:ENST00000591215:exon4:c.G96T:p.Q32H;ENSG00000066926:ENST00000382873:exon3:c.G330T:p.Q110H;	0.00437469383126351	0.18
18	55240480	C	G	18	57573248	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.G330C:p.Q110H;FECH:NM_000140:exon3:c.G312C:p.Q104H;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.G312C:p.Q104H;ENSG00000066926:ENST00000592699:exon3:c.G312C:p.Q104H;ENSG00000066926:ENST00000262093:exon3:c.G312C:p.Q104H;ENSG00000066926:ENST00000585494:exon3:c.G312C:p.Q104H;ENSG00000066926:ENST00000591215:exon4:c.G96C:p.Q32H;ENSG00000066926:ENST00000382873:exon3:c.G330C:p.Q110H;	1.39567139535047E-4	0.058
18	55240480	C	T	18	57573248	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon3:c.G330A:p.Q110Q;FECH:NM_000140:exon3:c.G312A:p.Q104Q;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.G312A:p.Q104Q;ENSG00000066926:ENST00000592699:exon3:c.G312A:p.Q104Q;ENSG00000066926:ENST00000262093:exon3:c.G312A:p.Q104Q;ENSG00000066926:ENST00000585494:exon3:c.G312A:p.Q104Q;ENSG00000066926:ENST00000591215:exon4:c.G96A:p.Q32Q;ENSG00000066926:ENST00000382873:exon3:c.G330A:p.Q110Q;	2.70238828184475E-5	0.006
18	55240596	T	A	18	57573364	y	y	exonic	FECH	stopgain SNV	FECH:NM_001012515:exon3:c.A214T:p.K72X;FECH:NM_000140:exon3:c.A196T:p.K66X;	exonic	ENSG00000066926	stopgain SNV	ENSG00000066926:ENST00000585747:exon3:c.A196T:p.K66X;ENSG00000066926:ENST00000592699:exon3:c.A196T:p.K66X;ENSG00000066926:ENST00000262093:exon3:c.A196T:p.K66X;ENSG00000066926:ENST00000585494:exon3:c.A196T:p.K66X;ENSG00000066926:ENST00000382873:exon3:c.A214T:p.K72X;	0.93612751263525	0.868
18	55240596	T	C	18	57573364	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.A214G:p.K72E;FECH:NM_000140:exon3:c.A196G:p.K66E;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.A196G:p.K66E;ENSG00000066926:ENST00000592699:exon3:c.A196G:p.K66E;ENSG00000066926:ENST00000262093:exon3:c.A196G:p.K66E;ENSG00000066926:ENST00000585494:exon3:c.A196G:p.K66E;ENSG00000066926:ENST00000382873:exon3:c.A214G:p.K72E;	0.939449437872111	0.564
18	55240596	T	G	18	57573364	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.A214C:p.K72Q;FECH:NM_000140:exon3:c.A196C:p.K66Q;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.A196C:p.K66Q;ENSG00000066926:ENST00000592699:exon3:c.A196C:p.K66Q;ENSG00000066926:ENST00000262093:exon3:c.A196C:p.K66Q;ENSG00000066926:ENST00000585494:exon3:c.A196C:p.K66Q;ENSG00000066926:ENST00000382873:exon3:c.A214C:p.K72Q;	0.916432505285523	0.756
18	55240597	C	A	18	57573365	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.G213T:p.R71S;FECH:NM_000140:exon3:c.G195T:p.R65S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.G195T:p.R65S;ENSG00000066926:ENST00000592699:exon3:c.G195T:p.R65S;ENSG00000066926:ENST00000262093:exon3:c.G195T:p.R65S;ENSG00000066926:ENST00000585494:exon3:c.G195T:p.R65S;ENSG00000066926:ENST00000382873:exon3:c.G213T:p.R71S;	0.991824948889442	0.854
18	55240597	C	G	18	57573365	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon3:c.G213C:p.R71S;FECH:NM_000140:exon3:c.G195C:p.R65S;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.G195C:p.R65S;ENSG00000066926:ENST00000592699:exon3:c.G195C:p.R65S;ENSG00000066926:ENST00000262093:exon3:c.G195C:p.R65S;ENSG00000066926:ENST00000585494:exon3:c.G195C:p.R65S;ENSG00000066926:ENST00000382873:exon3:c.G213C:p.R71S;	0.929288251865928	0.814
18	55240597	C	T	18	57573365	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon3:c.G213A:p.R71R;FECH:NM_000140:exon3:c.G195A:p.R65R;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon3:c.G195A:p.R65R;ENSG00000066926:ENST00000592699:exon3:c.G195A:p.R65R;ENSG00000066926:ENST00000262093:exon3:c.G195A:p.R65R;ENSG00000066926:ENST00000585494:exon3:c.G195A:p.R65R;ENSG00000066926:ENST00000382873:exon3:c.G213A:p.R71R;	0.0295387912428871	0.288
18	55240598	C	A	18	57573366	y	y	splicing	FECH(NM_000140:exon4:c.195-1G>T;NM_001012515:exon4:c.213-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.195-1G>T;ENST00000382873:exon4:c.213-1G>T;ENST00000585494:exon4:c.195-1G>T;ENST00000592699:exon4:c.195-1G>T;ENST00000585747:exon4:c.195-1G>T)	.	.	0.999990361384395	0.936
18	55240598	C	G	18	57573366	y	y	splicing	FECH(NM_000140:exon4:c.195-1G>C;NM_001012515:exon4:c.213-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.195-1G>C;ENST00000382873:exon4:c.213-1G>C;ENST00000585494:exon4:c.195-1G>C;ENST00000592699:exon4:c.195-1G>C;ENST00000585747:exon4:c.195-1G>C)	.	.	0.999990361384395	0.938
18	55240598	C	T	18	57573366	y	y	splicing	FECH(NM_000140:exon4:c.195-1G>A;NM_001012515:exon4:c.213-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.195-1G>A;ENST00000382873:exon4:c.213-1G>A;ENST00000585494:exon4:c.195-1G>A;ENST00000592699:exon4:c.195-1G>A;ENST00000585747:exon4:c.195-1G>A)	.	.	0.999990361384395	0.936
18	55240599	T	A	18	57573367	y	y	splicing	FECH(NM_000140:exon4:c.195-2A>T;NM_001012515:exon4:c.213-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.195-2A>T;ENST00000382873:exon4:c.213-2A>T;ENST00000585494:exon4:c.195-2A>T;ENST00000592699:exon4:c.195-2A>T;ENST00000585747:exon4:c.195-2A>T)	.	.	0.999988247793601	0.932
18	55240599	T	C	18	57573367	y	y	splicing	FECH(NM_000140:exon4:c.195-2A>G;NM_001012515:exon4:c.213-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.195-2A>G;ENST00000382873:exon4:c.213-2A>G;ENST00000585494:exon4:c.195-2A>G;ENST00000592699:exon4:c.195-2A>G;ENST00000585747:exon4:c.195-2A>G)	.	.	0.999988247793601	0.932
18	55240599	T	G	18	57573367	y	y	splicing	FECH(NM_000140:exon4:c.195-2A>C;NM_001012515:exon4:c.213-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon4:c.195-2A>C;ENST00000382873:exon4:c.213-2A>C;ENST00000585494:exon4:c.195-2A>C;ENST00000592699:exon4:c.195-2A>C;ENST00000585747:exon4:c.195-2A>C)	.	.	0.999988247793601	0.932
18	55240600	A	C	18	57573368	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.870176161914845	0.614
18	55240600	A	G	18	57573368	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.25277030309134E-5	0.0
18	55240600	A	T	18	57573368	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00147351755953404	0.108
18	55240601	T	A	18	57573369	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.88411414299709E-5	0.0
18	55240601	T	C	18	57573369	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.00009262346269E-4	0.0
18	55240601	T	G	18	57573369	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.35216656081464E-5	0.0
18	55240602	A	C	18	57573370	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.99986250513774	0.848
18	55240602	A	G	18	57573370	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.52729012004663E-5	0.006
18	55240602	A	T	18	57573370	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0739001564572846	0.43
18	55240603	T	A	18	57573371	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.30300476773151E-5	0.004
18	55240603	T	C	18	57573371	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.58606214327425E-5	0.01
18	55240603	T	G	18	57573371	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.6264850173851E-5	0.008
18	55240604	A	C	18	57573372	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0378831944299285	0.226
18	55240604	A	G	18	57573372	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.421753259401E-4	0.002
18	55240604	A	T	18	57573372	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0427560482974957	0.264
18	55240605	A	C	18	57573373	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00605348111363331	0.278
18	55240605	A	G	18	57573373	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.54953705727603E-4	0.012
18	55240605	A	T	18	57573373	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0666963554798491	0.306
18	55240606	A	C	18	57573374	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0760946501628596	0.418
18	55240606	A	G	18	57573374	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.06876027876444E-4	0.012
18	55240606	A	T	18	57573374	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.229727079087709	0.364
18	55240607	A	C	18	57573375	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.9999458995182	0.98
18	55240607	A	G	18	57573375	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.48189648053081E-4	0.024
18	55240607	A	T	18	57573375	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.401376104299669	0.542
18	55240608	T	A	18	57573376	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.99437080812622E-5	0.05
18	55240608	T	C	18	57573376	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.96030534884039E-5	0.002
18	55240608	T	G	18	57573376	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.04745572355526E-5	0.006
18	55240609	A	C	18	57573377	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0292234235091027	0.27
18	55240609	A	G	18	57573377	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.27895337369954E-4	0.002
18	55240609	A	T	18	57573377	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.703249502574901	0.53
18	55247279	A	C	18	57580047	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.73443056255124E-5	0.0
18	55247279	A	G	18	57580047	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.82275659187098E-5	0.0
18	55247279	A	T	18	57580047	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.39499247638507E-4	0.008
18	55247280	T	A	18	57580048	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.61464922675008E-5	0.0
18	55247280	T	C	18	57580048	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.27505293117029E-5	0.0
18	55247280	T	G	18	57580048	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.86590924201456E-5	0.0
18	55247281	T	A	18	57580049	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.29888294738064E-5	0.038
18	55247281	T	C	18	57580049	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.83426612527804E-5	0.008
18	55247281	T	G	18	57580049	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.10513985366488E-5	0.046
18	55247282	T	A	18	57580050	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	7.67757704912053E-5	0.004
18	55247282	T	C	18	57580050	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.36525045297626E-4	0.014
18	55247282	T	G	18	57580050	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.14729816839611E-4	0.01
18	55247283	G	A	18	57580051	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.27978447758315E-4	0.044
18	55247283	G	C	18	57580051	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.32954112731018E-4	0.05
18	55247283	G	T	18	57580051	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.7569438749104E-4	0.078
18	55247284	T	A	18	57580052	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.996922933634424	0.604
18	55247284	T	C	18	57580052	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.274691037732613	0.468
18	55247284	T	G	18	57580052	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.996922933634424	0.614
18	55247285	A	C	18	57580053	y	y	splicing	FECH(NM_001012515:exon3:c.212+2T>G)	.	.	splicing	ENSG00000066926(ENST00000382873:exon3:c.212+2T>G)	.	.	0.999593167318106	0.576
18	55247285	A	G	18	57580053	y	y	splicing	FECH(NM_001012515:exon3:c.212+2T>C)	.	.	splicing	ENSG00000066926(ENST00000382873:exon3:c.212+2T>C)	.	.	0.516986864883623	0.46
18	55247285	A	T	18	57580053	y	y	splicing	FECH(NM_001012515:exon3:c.212+2T>A)	.	.	splicing	ENSG00000066926(ENST00000382873:exon3:c.212+2T>A)	.	.	0.999593167318106	0.59
18	55247286	C	A	18	57580054	y	y	splicing	FECH(NM_001012515:exon3:c.212+1G>T)	.	.	splicing	ENSG00000066926(ENST00000382873:exon3:c.212+1G>T)	.	.	0.999868199969798	0.654
18	55247286	C	G	18	57580054	y	y	splicing	FECH(NM_001012515:exon3:c.212+1G>C)	.	.	splicing	ENSG00000066926(ENST00000382873:exon3:c.212+1G>C)	.	.	0.999868199969798	0.65
18	55247286	C	T	18	57580054	y	y	splicing	FECH(NM_001012515:exon3:c.212+1G>A)	.	.	splicing	ENSG00000066926(ENST00000382873:exon3:c.212+1G>A)	.	.	0.999952989192995	0.656
18	55247287	C	A	18	57580055	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.G212T:p.R71M;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.G212T:p.R71M;	0.999973867128601	0.852
18	55247287	C	G	18	57580055	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.G212C:p.R71T;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.G212C:p.R71T;	0.999976079316056	0.884
18	55247287	C	T	18	57580055	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.G212A:p.R71K;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.G212A:p.R71K;	0.999822016795592	0.814
18	55247288	T	A	18	57580056	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.A211T:p.R71W;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.A211T:p.R71W;	0.999856322235363	0.956
18	55247288	T	C	18	57580056	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.A211G:p.R71G;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.A211G:p.R71G;	0.999011508968426	0.976
18	55247288	T	G	18	57580056	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon2:c.A211C:p.R71R;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.A211C:p.R71R;	0.994977181572869	0.856
18	55247289	G	A	18	57580057	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon2:c.C210T:p.I70I;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.C210T:p.I70I;	0.702854604519091	0.476
18	55247289	G	C	18	57580057	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.C210G:p.I70M;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.C210G:p.I70M;	0.00964908330293232	0.092
18	55247289	G	T	18	57580057	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon2:c.C210A:p.I70I;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000382873:exon2:c.C210A:p.I70I;	2.31518783201969E-4	0.006
18	55247430	C	A	18	57580198	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon2:c.G69T:p.L23L;FECH:NM_000140:exon2:c.G69T:p.L23L;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon2:c.G69T:p.L23L;ENSG00000066926:ENST00000592699:exon2:c.G69T:p.L23L;ENSG00000066926:ENST00000262093:exon2:c.G69T:p.L23L;ENSG00000066926:ENST00000585494:exon2:c.G69T:p.L23L;ENSG00000066926:ENST00000382873:exon2:c.G69T:p.L23L;	7.68682933598372E-4	0.032
18	55247430	C	G	18	57580198	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon2:c.G69C:p.L23L;FECH:NM_000140:exon2:c.G69C:p.L23L;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon2:c.G69C:p.L23L;ENSG00000066926:ENST00000592699:exon2:c.G69C:p.L23L;ENSG00000066926:ENST00000262093:exon2:c.G69C:p.L23L;ENSG00000066926:ENST00000585494:exon2:c.G69C:p.L23L;ENSG00000066926:ENST00000382873:exon2:c.G69C:p.L23L;	2.32773123947832E-4	0.03
18	55247430	C	T	18	57580198	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon2:c.G69A:p.L23L;FECH:NM_000140:exon2:c.G69A:p.L23L;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon2:c.G69A:p.L23L;ENSG00000066926:ENST00000592699:exon2:c.G69A:p.L23L;ENSG00000066926:ENST00000262093:exon2:c.G69A:p.L23L;ENSG00000066926:ENST00000585494:exon2:c.G69A:p.L23L;ENSG00000066926:ENST00000382873:exon2:c.G69A:p.L23L;	0.00138126233411813	0.086
18	55247431	A	C	18	57580199	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.T68G:p.L23R;FECH:NM_000140:exon2:c.T68G:p.L23R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon2:c.T68G:p.L23R;ENSG00000066926:ENST00000592699:exon2:c.T68G:p.L23R;ENSG00000066926:ENST00000262093:exon2:c.T68G:p.L23R;ENSG00000066926:ENST00000585494:exon2:c.T68G:p.L23R;ENSG00000066926:ENST00000382873:exon2:c.T68G:p.L23R;	0.00100139613355529	0.124
18	55247431	A	G	18	57580199	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.T68C:p.L23P;FECH:NM_000140:exon2:c.T68C:p.L23P;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon2:c.T68C:p.L23P;ENSG00000066926:ENST00000592699:exon2:c.T68C:p.L23P;ENSG00000066926:ENST00000262093:exon2:c.T68C:p.L23P;ENSG00000066926:ENST00000585494:exon2:c.T68C:p.L23P;ENSG00000066926:ENST00000382873:exon2:c.T68C:p.L23P;	4.93282490692741E-4	0.046
18	55247431	A	T	18	57580199	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon2:c.T68A:p.L23Q;FECH:NM_000140:exon2:c.T68A:p.L23Q;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon2:c.T68A:p.L23Q;ENSG00000066926:ENST00000592699:exon2:c.T68A:p.L23Q;ENSG00000066926:ENST00000262093:exon2:c.T68A:p.L23Q;ENSG00000066926:ENST00000585494:exon2:c.T68A:p.L23Q;ENSG00000066926:ENST00000382873:exon2:c.T68A:p.L23Q;	3.3101786744095E-4	0.014
18	55247432	C	A	18	57580200	y	y	splicing	FECH(NM_000140:exon3:c.68-1G>T;NM_001012515:exon3:c.68-1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon3:c.68-1G>T;ENST00000382873:exon3:c.68-1G>T;ENST00000585494:exon3:c.68-1G>T;ENST00000592699:exon3:c.68-1G>T;ENST00000585747:exon3:c.68-1G>T)	.	.	0.999925264980459	0.95
18	55247432	C	G	18	57580200	y	y	splicing	FECH(NM_000140:exon3:c.68-1G>C;NM_001012515:exon3:c.68-1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon3:c.68-1G>C;ENST00000382873:exon3:c.68-1G>C;ENST00000585494:exon3:c.68-1G>C;ENST00000592699:exon3:c.68-1G>C;ENST00000585747:exon3:c.68-1G>C)	.	.	0.999925264980459	0.95
18	55247432	C	T	18	57580200	y	y	splicing	FECH(NM_000140:exon3:c.68-1G>A;NM_001012515:exon3:c.68-1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon3:c.68-1G>A;ENST00000382873:exon3:c.68-1G>A;ENST00000585494:exon3:c.68-1G>A;ENST00000592699:exon3:c.68-1G>A;ENST00000585747:exon3:c.68-1G>A)	.	.	0.999925264980459	0.952
18	55247433	T	A	18	57580201	y	y	splicing	FECH(NM_000140:exon3:c.68-2A>T;NM_001012515:exon3:c.68-2A>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon3:c.68-2A>T;ENST00000382873:exon3:c.68-2A>T;ENST00000585494:exon3:c.68-2A>T;ENST00000592699:exon3:c.68-2A>T;ENST00000585747:exon3:c.68-2A>T)	.	.	0.99993928974862	0.962
18	55247433	T	C	18	57580201	y	y	splicing	FECH(NM_000140:exon3:c.68-2A>G;NM_001012515:exon3:c.68-2A>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon3:c.68-2A>G;ENST00000382873:exon3:c.68-2A>G;ENST00000585494:exon3:c.68-2A>G;ENST00000592699:exon3:c.68-2A>G;ENST00000585747:exon3:c.68-2A>G)	.	.	0.99993928974862	0.956
18	55247433	T	G	18	57580201	y	y	splicing	FECH(NM_000140:exon3:c.68-2A>C;NM_001012515:exon3:c.68-2A>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon3:c.68-2A>C;ENST00000382873:exon3:c.68-2A>C;ENST00000585494:exon3:c.68-2A>C;ENST00000592699:exon3:c.68-2A>C;ENST00000585747:exon3:c.68-2A>C)	.	.	0.99993928974862	0.96
18	55247434	G	A	18	57580202	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.021318832899166	0.252
18	55247434	G	C	18	57580202	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999379933373623	0.736
18	55247434	G	T	18	57580202	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.998779173212754	0.884
18	55247435	T	A	18	57580203	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.14203929932808E-5	0.056
18	55247435	T	C	18	57580203	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.55595767162688E-5	0.008
18	55247435	T	G	18	57580203	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.89051019743527E-5	0.026
18	55247436	G	A	18	57580204	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.85971941209338E-4	0.02
18	55247436	G	C	18	57580204	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00542157812721879	0.078
18	55247436	G	T	18	57580204	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00479496952438831	0.07
18	55247437	A	C	18	57580205	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.851433777493693	0.68
18	55247437	A	G	18	57580205	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.79190428690091E-4	0.07
18	55247437	A	T	18	57580205	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.786792272067122	0.602
18	55247438	C	A	18	57580206	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.35302498697492E-4	0.048
18	55247438	C	G	18	57580206	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.26062979280745E-4	0.034
18	55247438	C	T	18	57580206	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0118867274838713	0.08
18	55247439	A	C	18	57580207	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0142999591959554	0.366
18	55247439	A	G	18	57580207	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.71457484138548E-4	0.018
18	55247439	A	T	18	57580207	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999833136556991	0.984
18	55247440	A	C	18	57580208	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.103970793295789	0.572
18	55247440	A	G	18	57580208	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	8.2521844507673E-4	0.056
18	55247440	A	T	18	57580208	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.174900122787171	0.61
18	55247441	A	C	18	57580209	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.418239150627576	0.556
18	55247441	A	G	18	57580209	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00141881157713653	0.056
18	55247441	A	T	18	57580209	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.601603441519741	0.612
18	55247442	A	C	18	57580210	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999942578813054	0.964
18	55247442	A	G	18	57580210	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.0276741162069814	0.284
18	55247442	A	T	18	57580210	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.904134372262685	0.576
18	55247443	T	A	18	57580211	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.32186368474212E-5	0.002
18	55247443	T	C	18	57580211	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.33443519784276	0.444
18	55247443	T	G	18	57580211	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.42490577757472E-5	0.012
18	55253088	A	C	18	57585856	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253088	A	G	18	57585856	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253088	A	T	18	57585856	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.40940918270023E-4	0.0
18	55253089	C	A	18	57585857	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.05918261028706E-4	0.0
18	55253089	C	G	18	57585857	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	6.24453633365032E-5	0.0
18	55253089	C	T	18	57585857	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.05918261028706E-4	0.0
18	55253090	A	C	18	57585858	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.2194139863653E-4	0.0
18	55253090	A	G	18	57585858	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.2194139863653E-4	0.0
18	55253090	A	T	18	57585858	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.99631197343012E-4	0.002
18	55253091	T	A	18	57585859	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.03334260509943E-4	0.002
18	55253091	T	C	18	57585859	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.03334260509943E-4	0.002
18	55253091	T	G	18	57585859	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.03334260509943E-4	0.002
18	55253092	T	A	18	57585860	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253092	T	C	18	57585860	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253092	T	G	18	57585860	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253093	T	A	18	57585861	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.20237970951444E-4	0.002
18	55253093	T	C	18	57585861	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.03334260509943E-4	0.002
18	55253093	T	G	18	57585861	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.03334260509943E-4	0.002
18	55253094	A	C	18	57585862	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253094	A	G	18	57585862	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253094	A	T	18	57585862	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253095	C	A	18	57585863	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	6.67121101084567E-5	0.0
18	55253095	C	G	18	57585863	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	6.67121101084567E-5	0.0
18	55253095	C	T	18	57585863	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	3.0412441480395E-5	0.0
18	55253096	C	A	18	57585864	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.24453633365032E-5	0.0
18	55253096	C	G	18	57585864	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.24453633365032E-5	0.0
18	55253096	C	T	18	57585864	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.24453633365032E-5	0.0
18	55253097	A	C	18	57585865	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	4.85096237301136E-5	0.004
18	55253097	A	G	18	57585865	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	4.85096237301136E-5	0.004
18	55253097	A	T	18	57585865	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	1.30176921285033E-4	0.004
18	55253098	A	C	18	57585866	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.01416778770864E-4	0.068
18	55253098	A	G	18	57585866	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.01416778770864E-4	0.068
18	55253098	A	T	18	57585866	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.01416778770864E-4	0.068
18	55253204	A	C	18	57585972	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.25580661932895E-5	0.0
18	55253204	A	G	18	57585972	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.25580661932895E-5	0.0
18	55253204	A	T	18	57585972	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	6.90446143668106E-5	0.0
18	55253205	C	A	18	57585973	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	0.00128020437041737	0.016
18	55253205	C	G	18	57585973	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	9.99335393172525E-4	0.016
18	55253205	C	T	18	57585973	n	y	intronic	FECH	.	.	UTR5	ENSG00000066926	.	.	0.00148210635357804	0.018
18	55253206	C	A	18	57585974	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	4.80924373634625E-5	0.0
18	55253206	C	G	18	57585974	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	8.74094660865297E-5	0.0
18	55253206	C	T	18	57585974	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	4.80924373634625E-5	0.0
18	55253207	T	A	18	57585975	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	1.40940918270023E-4	0.002
18	55253207	T	C	18	57585975	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253207	T	G	18	57585975	n	y	intronic	FECH	.	.	splicing	ENSG00000066926	.	.	5.25211152755068E-5	0.0
18	55253208	A	C	18	57585976	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.3797186435366E-5	0.0
18	55253208	A	G	18	57585976	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.3797186435366E-5	0.0
18	55253208	A	T	18	57585976	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	1.09140965628747E-4	0.0
18	55253209	T	A	18	57585977	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.3797186435366E-5	0.0
18	55253209	T	C	18	57585977	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.3797186435366E-5	0.0
18	55253209	T	G	18	57585977	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.3797186435366E-5	0.0
18	55253210	T	A	18	57585978	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.19523722086209E-5	0.0
18	55253210	T	C	18	57585978	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.19523722086209E-5	0.0
18	55253210	T	G	18	57585978	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.19523722086209E-5	0.0
18	55253211	C	A	18	57585979	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.0510236703573E-5	0.142
18	55253211	C	G	18	57585979	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.0510236703573E-5	0.142
18	55253211	C	T	18	57585979	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.0510236703573E-5	0.142
18	55253212	A	C	18	57585980	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.951189346585E-5	0.0
18	55253212	A	G	18	57585980	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.951189346585E-5	0.0
18	55253212	A	T	18	57585980	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.951189346585E-5	0.0
18	55253213	C	A	18	57585981	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.13536747317882E-5	0.012
18	55253213	C	G	18	57585981	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.13536747317882E-5	0.012
18	55253213	C	T	18	57585981	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.13536747317882E-5	0.012
18	55253214	G	A	18	57585982	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.27237026149931E-5	0.0
18	55253214	G	C	18	57585982	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.27237026149931E-5	0.0
18	55253214	G	T	18	57585982	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	9.27237026149931E-5	0.0
18	55253215	G	A	18	57585983	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.69930370103191E-5	0.0
18	55253215	G	C	18	57585983	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.69930370103191E-5	0.0
18	55253215	G	T	18	57585983	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.69930370103191E-5	0.0
18	55253216	T	A	18	57585984	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.62965044666173E-5	0.0
18	55253216	T	C	18	57585984	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.62965044666173E-5	0.0
18	55253216	T	G	18	57585984	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	3.62965044666173E-5	0.0
18	55253217	T	A	18	57585985	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.6460740975598E-5	0.0
18	55253217	T	C	18	57585985	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.11563519862287E-5	0.0
18	55253217	T	G	18	57585985	n	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.11563519862287E-5	0.0
18	55253778	C	A	18	57586546	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.09594868733398E-4	0.01
18	55253778	C	G	18	57586546	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.07353622726832E-4	0.002
18	55253778	C	T	18	57586546	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	2.20733214302961E-4	0.004
18	55253779	C	A	18	57586547	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	5.22244873056314E-4	0.008
18	55253779	C	G	18	57586547	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.00107155315767254	0.014
18	55253779	C	T	18	57586547	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	4.71273082281107E-4	0.006
18	55253780	A	C	18	57586548	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.664973631914775	0.588
18	55253780	A	G	18	57586548	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.938515043682995	0.68
18	55253780	A	T	18	57586548	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.853430471288916	0.57
18	55253781	C	A	18	57586549	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999985172894957	0.978
18	55253781	C	G	18	57586549	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999978074856125	0.95
18	55253781	C	T	18	57586549	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999981156892802	0.99
18	55253782	T	A	18	57586550	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.985722469426868	0.786
18	55253782	T	C	18	57586550	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.981760552102221	0.802
18	55253782	T	G	18	57586550	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.851105450134653	0.706
18	55253783	T	A	18	57586551	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.999729994588799	0.92
18	55253783	T	C	18	57586551	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.225384656422686	0.324
18	55253783	T	G	18	57586551	y	y	intronic	FECH	.	.	intronic	ENSG00000066926	.	.	0.997471149643881	0.884
18	55253784	A	C	18	57586552	y	y	splicing	FECH(NM_000140:exon2:c.67+2T>G;NM_001012515:exon2:c.67+2T>G)	.	.	splicing	ENSG00000066926(ENST00000262093:exon2:c.67+2T>G;ENST00000382873:exon2:c.67+2T>G;ENST00000585494:exon2:c.67+2T>G;ENST00000592699:exon2:c.67+2T>G;ENST00000585747:exon2:c.67+2T>G)	.	.	0.999978672009528	0.936
18	55253784	A	G	18	57586552	y	y	splicing	FECH(NM_000140:exon2:c.67+2T>C;NM_001012515:exon2:c.67+2T>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon2:c.67+2T>C;ENST00000382873:exon2:c.67+2T>C;ENST00000585494:exon2:c.67+2T>C;ENST00000592699:exon2:c.67+2T>C;ENST00000585747:exon2:c.67+2T>C)	.	.	0.966034997425206	0.566
18	55253784	A	T	18	57586552	y	y	splicing	FECH(NM_000140:exon2:c.67+2T>A;NM_001012515:exon2:c.67+2T>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon2:c.67+2T>A;ENST00000382873:exon2:c.67+2T>A;ENST00000585494:exon2:c.67+2T>A;ENST00000592699:exon2:c.67+2T>A;ENST00000585747:exon2:c.67+2T>A)	.	.	0.999967305459904	0.942
18	55253785	C	A	18	57586553	y	y	splicing	FECH(NM_000140:exon2:c.67+1G>T;NM_001012515:exon2:c.67+1G>T)	.	.	splicing	ENSG00000066926(ENST00000262093:exon2:c.67+1G>T;ENST00000382873:exon2:c.67+1G>T;ENST00000585494:exon2:c.67+1G>T;ENST00000592699:exon2:c.67+1G>T;ENST00000585747:exon2:c.67+1G>T)	.	.	0.999960200702261	0.938
18	55253785	C	G	18	57586553	y	y	splicing	FECH(NM_000140:exon2:c.67+1G>C;NM_001012515:exon2:c.67+1G>C)	.	.	splicing	ENSG00000066926(ENST00000262093:exon2:c.67+1G>C;ENST00000382873:exon2:c.67+1G>C;ENST00000585494:exon2:c.67+1G>C;ENST00000592699:exon2:c.67+1G>C;ENST00000585747:exon2:c.67+1G>C)	.	.	0.999958812450268	0.934
18	55253785	C	T	18	57586553	y	y	splicing	FECH(NM_000140:exon2:c.67+1G>A;NM_001012515:exon2:c.67+1G>A)	.	.	splicing	ENSG00000066926(ENST00000262093:exon2:c.67+1G>A;ENST00000382873:exon2:c.67+1G>A;ENST00000585494:exon2:c.67+1G>A;ENST00000592699:exon2:c.67+1G>A;ENST00000585747:exon2:c.67+1G>A)	.	.	0.999960200702261	0.938
18	55253786	G	A	18	57586554	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon1:c.C67T:p.L23L;FECH:NM_000140:exon1:c.C67T:p.L23L;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.C67T:p.L23L;ENSG00000066926:ENST00000592699:exon1:c.C67T:p.L23L;ENSG00000066926:ENST00000262093:exon1:c.C67T:p.L23L;ENSG00000066926:ENST00000585494:exon1:c.C67T:p.L23L;ENSG00000066926:ENST00000382873:exon1:c.C67T:p.L23L;	1.47129133270423E-4	0.01
18	55253786	G	C	18	57586554	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon1:c.C67G:p.L23V;FECH:NM_000140:exon1:c.C67G:p.L23V;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.C67G:p.L23V;ENSG00000066926:ENST00000592699:exon1:c.C67G:p.L23V;ENSG00000066926:ENST00000262093:exon1:c.C67G:p.L23V;ENSG00000066926:ENST00000585494:exon1:c.C67G:p.L23V;ENSG00000066926:ENST00000382873:exon1:c.C67G:p.L23V;	9.32430278082581E-5	0.194
18	55253786	G	T	18	57586554	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon1:c.C67A:p.L23M;FECH:NM_000140:exon1:c.C67A:p.L23M;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.C67A:p.L23M;ENSG00000066926:ENST00000592699:exon1:c.C67A:p.L23M;ENSG00000066926:ENST00000262093:exon1:c.C67A:p.L23M;ENSG00000066926:ENST00000585494:exon1:c.C67A:p.L23M;ENSG00000066926:ENST00000382873:exon1:c.C67A:p.L23M;	9.21563230394673E-5	0.016
18	55253787	C	A	18	57586555	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon1:c.G66T:p.P22P;FECH:NM_000140:exon1:c.G66T:p.P22P;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.G66T:p.P22P;ENSG00000066926:ENST00000592699:exon1:c.G66T:p.P22P;ENSG00000066926:ENST00000262093:exon1:c.G66T:p.P22P;ENSG00000066926:ENST00000585494:exon1:c.G66T:p.P22P;ENSG00000066926:ENST00000382873:exon1:c.G66T:p.P22P;	0.00196494975040426	0.04
18	55253787	C	G	18	57586555	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon1:c.G66C:p.P22P;FECH:NM_000140:exon1:c.G66C:p.P22P;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.G66C:p.P22P;ENSG00000066926:ENST00000592699:exon1:c.G66C:p.P22P;ENSG00000066926:ENST00000262093:exon1:c.G66C:p.P22P;ENSG00000066926:ENST00000585494:exon1:c.G66C:p.P22P;ENSG00000066926:ENST00000382873:exon1:c.G66C:p.P22P;	5.01506097652142E-4	0.002
18	55253787	C	T	18	57586555	y	y	exonic	FECH	synonymous SNV	FECH:NM_001012515:exon1:c.G66A:p.P22P;FECH:NM_000140:exon1:c.G66A:p.P22P;	exonic	ENSG00000066926	synonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.G66A:p.P22P;ENSG00000066926:ENST00000592699:exon1:c.G66A:p.P22P;ENSG00000066926:ENST00000262093:exon1:c.G66A:p.P22P;ENSG00000066926:ENST00000585494:exon1:c.G66A:p.P22P;ENSG00000066926:ENST00000382873:exon1:c.G66A:p.P22P;	5.06356751313279E-4	0.112
18	55253788	G	A	18	57586556	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon1:c.C65T:p.P22L;FECH:NM_000140:exon1:c.C65T:p.P22L;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.C65T:p.P22L;ENSG00000066926:ENST00000592699:exon1:c.C65T:p.P22L;ENSG00000066926:ENST00000262093:exon1:c.C65T:p.P22L;ENSG00000066926:ENST00000585494:exon1:c.C65T:p.P22L;ENSG00000066926:ENST00000382873:exon1:c.C65T:p.P22L;	2.56054499867092E-4	0.062
18	55253788	G	C	18	57586556	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon1:c.C65G:p.P22R;FECH:NM_000140:exon1:c.C65G:p.P22R;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.C65G:p.P22R;ENSG00000066926:ENST00000592699:exon1:c.C65G:p.P22R;ENSG00000066926:ENST00000262093:exon1:c.C65G:p.P22R;ENSG00000066926:ENST00000585494:exon1:c.C65G:p.P22R;ENSG00000066926:ENST00000382873:exon1:c.C65G:p.P22R;	6.07756900695716E-5	0.02
18	55253788	G	T	18	57586556	y	y	exonic	FECH	nonsynonymous SNV	FECH:NM_001012515:exon1:c.C65A:p.P22Q;FECH:NM_000140:exon1:c.C65A:p.P22Q;	exonic	ENSG00000066926	nonsynonymous SNV	ENSG00000066926:ENST00000585747:exon1:c.C65A:p.P22Q;ENSG00000066926:ENST00000592699:exon1:c.C65A:p.P22Q;ENSG00000066926:ENST00000262093:exon1:c.C65A:p.P22Q;ENSG00000066926:ENST00000585494:exon1:c.C65A:p.P22Q;ENSG00000066926:ENST00000382873:exon1:c.C65A:p.P22Q;	3.39852636106903E-5	0.02
18	55269014	C	A	18	57601782	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon14:c.G1517T:p.R506I;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon12:c.G770T:p.R257I;ENSG00000134440:ENST00000256854:exon14:c.G1517T:p.R506I;	0.982035446610515	0.85
18	55269014	C	G	18	57601782	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon14:c.G1517C:p.R506T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon12:c.G770C:p.R257T;ENSG00000134440:ENST00000256854:exon14:c.G1517C:p.R506T;	0.98140848909142	0.896
18	55269014	C	T	18	57601782	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon14:c.G1517A:p.R506K;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon12:c.G770A:p.R257K;ENSG00000134440:ENST00000256854:exon14:c.G1517A:p.R506K;	0.992455260007446	0.9
18	55269015	T	A	18	57601783	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon14:c.A1516T:p.R506X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000423481:exon12:c.A769T:p.R257X;ENSG00000134440:ENST00000256854:exon14:c.A1516T:p.R506X;	0.0487707729366262	0.306
18	55269015	T	C	18	57601783	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon14:c.A1516G:p.R506G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon12:c.A769G:p.R257G;ENSG00000134440:ENST00000256854:exon14:c.A1516G:p.R506G;	0.0224219159035628	0.234
18	55269015	T	G	18	57601783	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon14:c.A1516C:p.R506R;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon12:c.A769C:p.R257R;ENSG00000134440:ENST00000256854:exon14:c.A1516C:p.R506R;	0.00228884085017303	0.104
18	55269016	C	A	18	57601784	y	y	splicing	NARS(NM_004539:exon15:c.1516-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon15:c.1516-1G>T;ENST00000423481:exon13:c.769-1G>T;ENST00000586807:exon13:c.1107-1G>T)	.	.	0.999990361384395	0.938
18	55269016	C	G	18	57601784	y	y	splicing	NARS(NM_004539:exon15:c.1516-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon15:c.1516-1G>C;ENST00000423481:exon13:c.769-1G>C;ENST00000586807:exon13:c.1107-1G>C)	.	.	0.999990361384395	0.938
18	55269016	C	T	18	57601784	y	y	splicing	NARS(NM_004539:exon15:c.1516-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon15:c.1516-1G>A;ENST00000423481:exon13:c.769-1G>A;ENST00000586807:exon13:c.1107-1G>A)	.	.	0.999990361384395	0.938
18	55269017	T	A	18	57601785	y	y	splicing	NARS(NM_004539:exon15:c.1516-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon15:c.1516-2A>T;ENST00000423481:exon13:c.769-2A>T;ENST00000586807:exon13:c.1107-2A>T)	.	.	0.999988247793601	0.932
18	55269017	T	C	18	57601785	y	y	splicing	NARS(NM_004539:exon15:c.1516-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon15:c.1516-2A>G;ENST00000423481:exon13:c.769-2A>G;ENST00000586807:exon13:c.1107-2A>G)	.	.	0.999988247793601	0.93
18	55269017	T	G	18	57601785	y	y	splicing	NARS(NM_004539:exon15:c.1516-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon15:c.1516-2A>C;ENST00000423481:exon13:c.769-2A>C;ENST00000586807:exon13:c.1107-2A>C)	.	.	0.999988247793601	0.93
18	55269018	G	A	18	57601786	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.475550897770809	0.19
18	55269018	G	C	18	57601786	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999936984893591	0.964
18	55269018	G	T	18	57601786	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999952035429306	0.946
18	55269019	T	A	18	57601787	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00164880223667525	0.036
18	55269019	T	C	18	57601787	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.966702863953376	0.736
18	55269019	T	G	18	57601787	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.32388431112071E-4	0.01
18	55269020	T	A	18	57601788	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.25354954813497E-4	0.022
18	55269020	T	C	18	57601788	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998278028037149	0.988
18	55269020	T	G	18	57601788	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.02039133284158E-4	0.012
18	55269021	T	A	18	57601789	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.45770477154401E-4	0.0
18	55269021	T	C	18	57601789	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.05686839908549E-5	0.012
18	55269021	T	G	18	57601789	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.04057946515349E-5	0.012
18	55269022	A	C	18	57601790	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00826681782674151	0.036
18	55269022	A	G	18	57601790	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.19223837993954E-5	0.004
18	55269022	A	T	18	57601790	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00627705853155022	0.074
18	55269023	A	C	18	57601791	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0197011469638252	0.314
18	55269023	A	G	18	57601791	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.06324401511876E-4	0.008
18	55269023	A	T	18	57601791	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0307322148760829	0.25
18	55269024	A	C	18	57601792	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0775952528367064	0.318
18	55269024	A	G	18	57601792	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.66672669411689E-4	0.012
18	55269024	A	T	18	57601792	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.050230775812952	0.314
18	55269025	A	C	18	57601793	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00699646086969495	0.162
18	55269025	A	G	18	57601793	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.1160280391532E-5	0.002
18	55269025	A	T	18	57601793	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0368831033359042	0.186
18	55269026	A	C	18	57601794	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0625740193736113	0.39
18	55269026	A	G	18	57601794	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0122721299258103	0.208
18	55269026	A	T	18	57601794	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.163933742300589	0.368
18	55269027	A	C	18	57601795	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00200374142588637	0.188
18	55269027	A	G	18	57601795	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.40895972911434E-5	0.008
18	55269027	A	T	18	57601795	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.119758154352252	0.336
18	55269579	G	A	18	57602347	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.89533158600686E-4	0.004
18	55269579	G	C	18	57602347	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.61866529102938E-4	0.006
18	55269579	G	T	18	57602347	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.25717766563993E-4	0.002
18	55269580	G	A	18	57602348	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.64921302075748E-4	0.004
18	55269580	G	C	18	57602348	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.57650738550472E-4	0.002
18	55269580	G	T	18	57602348	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.12457095184622E-4	0.004
18	55269581	T	A	18	57602349	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.63320649145538E-4	0.07
18	55269581	T	C	18	57602349	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.61090308677611E-4	0.02
18	55269581	T	G	18	57602349	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0358083713776971	0.172
18	55269582	T	A	18	57602350	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.61309781287356E-5	0.036
18	55269582	T	C	18	57602350	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.17774460995237E-4	0.104
18	55269582	T	G	18	57602350	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.85228660706615E-5	0.056
18	55269583	T	A	18	57602351	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.72570856960239	0.59
18	55269583	T	C	18	57602351	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.679443418163316	0.646
18	55269583	T	G	18	57602351	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.811535647762728	0.534
18	55269584	T	A	18	57602352	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99977388887996	0.96
18	55269584	T	C	18	57602352	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.995896273862537	0.868
18	55269584	T	G	18	57602352	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999906340349185	0.946
18	55269585	A	C	18	57602353	y	y	splicing	NARS(NM_004539:exon14:c.1515+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1515+2T>G;ENST00000423481:exon12:c.768+2T>G;ENST00000586807:exon12:c.1106+2T>G)	.	.	0.999988247793601	0.93
18	55269585	A	G	18	57602353	y	y	splicing	NARS(NM_004539:exon14:c.1515+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1515+2T>C;ENST00000423481:exon12:c.768+2T>C;ENST00000586807:exon12:c.1106+2T>C)	.	.	0.99692518773242	0.696
18	55269585	A	T	18	57602353	y	y	splicing	NARS(NM_004539:exon14:c.1515+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1515+2T>A;ENST00000423481:exon12:c.768+2T>A;ENST00000586807:exon12:c.1106+2T>A)	.	.	0.999988247793601	0.93
18	55269586	C	A	18	57602354	y	y	splicing	NARS(NM_004539:exon14:c.1515+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1515+1G>T;ENST00000423481:exon12:c.768+1G>T;ENST00000586807:exon12:c.1106+1G>T)	.	.	0.999989072007339	0.928
18	55269586	C	G	18	57602354	y	y	splicing	NARS(NM_004539:exon14:c.1515+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1515+1G>C;ENST00000423481:exon12:c.768+1G>C;ENST00000586807:exon12:c.1106+1G>C)	.	.	0.999989072007339	0.928
18	55269586	C	T	18	57602354	y	y	splicing	NARS(NM_004539:exon14:c.1515+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1515+1G>A;ENST00000423481:exon12:c.768+1G>A;ENST00000586807:exon12:c.1106+1G>A)	.	.	0.999989072007339	0.928
18	55269587	C	A	18	57602355	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.G1515T:p.Q505H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.G768T:p.Q256H;ENSG00000134440:ENST00000256854:exon13:c.G1515T:p.Q505H;	0.999992084630314	0.994
18	55269587	C	G	18	57602355	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.G1515C:p.Q505H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.G768C:p.Q256H;ENSG00000134440:ENST00000256854:exon13:c.G1515C:p.Q505H;	0.999997871243653	0.998
18	55269587	C	T	18	57602355	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon13:c.G1515A:p.Q505Q;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.G768A:p.Q256Q;ENSG00000134440:ENST00000256854:exon13:c.G1515A:p.Q505Q;	0.999977058764918	1.0
18	55269588	T	A	18	57602356	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.A1514T:p.Q505L;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.A767T:p.Q256L;ENSG00000134440:ENST00000256854:exon13:c.A1514T:p.Q505L;	0.99986625347842	0.998
18	55269588	T	C	18	57602356	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.A1514G:p.Q505R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.A767G:p.Q256R;ENSG00000134440:ENST00000256854:exon13:c.A1514G:p.Q505R;	0.999878633545244	1.0
18	55269588	T	G	18	57602356	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.A1514C:p.Q505P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.A767C:p.Q256P;ENSG00000134440:ENST00000256854:exon13:c.A1514C:p.Q505P;	0.999814037992986	0.98
18	55269589	G	A	18	57602357	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon13:c.C1513T:p.Q505X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000423481:exon11:c.C766T:p.Q256X;ENSG00000134440:ENST00000256854:exon13:c.C1513T:p.Q505X;	0.999860248665723	0.984
18	55269589	G	C	18	57602357	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.C1513G:p.Q505E;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.C766G:p.Q256E;ENSG00000134440:ENST00000256854:exon13:c.C1513G:p.Q505E;	0.960498234283287	0.68
18	55269589	G	T	18	57602357	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.C1513A:p.Q505K;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.C766A:p.Q256K;ENSG00000134440:ENST00000256854:exon13:c.C1513A:p.Q505K;	0.959503144631447	0.838
18	55269717	A	C	18	57602485	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.T1385G:p.V462G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.T638G:p.V213G;ENSG00000134440:ENST00000256854:exon13:c.T1385G:p.V462G;	0.94126597581823	0.534
18	55269717	A	G	18	57602485	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.T1385C:p.V462A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.T638C:p.V213A;ENSG00000134440:ENST00000256854:exon13:c.T1385C:p.V462A;	0.943287021041166	0.552
18	55269717	A	T	18	57602485	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.T1385A:p.V462D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.T638A:p.V213D;ENSG00000134440:ENST00000256854:exon13:c.T1385A:p.V462D;	0.951145633953785	0.514
18	55269718	C	A	18	57602486	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.G1384T:p.V462F;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.G637T:p.V213F;ENSG00000134440:ENST00000256854:exon13:c.G1384T:p.V462F;	0.999958481722512	1.0
18	55269718	C	G	18	57602486	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.G1384C:p.V462L;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.G637C:p.V213L;ENSG00000134440:ENST00000256854:exon13:c.G1384C:p.V462L;	0.999889484656063	0.986
18	55269718	C	T	18	57602486	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon13:c.G1384A:p.V462I;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon11:c.G637A:p.V213I;ENSG00000134440:ENST00000256854:exon13:c.G1384A:p.V462I;	0.999822272120226	0.952
18	55269719	C	A	18	57602487	y	y	splicing	NARS(NM_004539:exon14:c.1384-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1384-1G>T;ENST00000423481:exon12:c.637-1G>T;ENST00000586807:exon12:c.975-1G>T)	.	.	0.999990361384395	0.948
18	55269719	C	G	18	57602487	y	y	splicing	NARS(NM_004539:exon14:c.1384-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1384-1G>C;ENST00000423481:exon12:c.637-1G>C;ENST00000586807:exon12:c.975-1G>C)	.	.	0.999990361384395	0.948
18	55269719	C	T	18	57602487	y	y	splicing	NARS(NM_004539:exon14:c.1384-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1384-1G>A;ENST00000423481:exon12:c.637-1G>A;ENST00000586807:exon12:c.975-1G>A)	.	.	0.999990361384395	0.948
18	55269720	T	A	18	57602488	y	y	splicing	NARS(NM_004539:exon14:c.1384-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1384-2A>T;ENST00000423481:exon12:c.637-2A>T;ENST00000586807:exon12:c.975-2A>T)	.	.	0.999988247793601	0.95
18	55269720	T	C	18	57602488	y	y	splicing	NARS(NM_004539:exon14:c.1384-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1384-2A>G;ENST00000423481:exon12:c.637-2A>G;ENST00000586807:exon12:c.975-2A>G)	.	.	0.999988247793601	0.95
18	55269720	T	G	18	57602488	y	y	splicing	NARS(NM_004539:exon14:c.1384-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon14:c.1384-2A>C;ENST00000423481:exon12:c.637-2A>C;ENST00000586807:exon12:c.975-2A>C)	.	.	0.999988247793601	0.95
18	55269721	T	A	18	57602489	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.24882981857367E-4	0.0
18	55269721	T	C	18	57602489	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.692247086257078	0.594
18	55269721	T	G	18	57602489	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.64000581383642E-4	0.116
18	55269722	T	A	18	57602490	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.74421066988426E-5	0.024
18	55269722	T	C	18	57602490	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.60665106420802E-4	0.05
18	55269722	T	G	18	57602490	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.53740389905634E-5	0.094
18	55269723	A	C	18	57602491	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.656557408136445	0.584
18	55269723	A	G	18	57602491	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0299687427388076	0.18
18	55269723	A	T	18	57602491	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.405402933653947	0.594
18	55269724	A	C	18	57602492	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.335328132229946	0.486
18	55269724	A	G	18	57602492	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.04919756008281E-4	0.032
18	55269724	A	T	18	57602492	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0606949856657441	0.442
18	55269725	A	C	18	57602493	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999962011477873	0.992
18	55269725	A	G	18	57602493	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.01537609125033E-4	0.016
18	55269725	A	T	18	57602493	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0229611969621168	0.286
18	55269726	T	A	18	57602494	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.38422011651384E-5	0.012
18	55269726	T	C	18	57602494	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.89441853916266E-5	0.0
18	55269726	T	G	18	57602494	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.38422011651384E-5	0.006
18	55269727	A	C	18	57602495	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998010030437964	0.856
18	55269727	A	G	18	57602495	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.30547501735581E-4	0.058
18	55269727	A	T	18	57602495	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00256363081789653	0.066
18	55269728	T	A	18	57602496	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.88863356375749E-5	0.01
18	55269728	T	C	18	57602496	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.3924594392846E-5	0.0
18	55269728	T	G	18	57602496	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.88863356375749E-5	0.004
18	55269729	A	C	18	57602497	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.281336932282023	0.482
18	55269729	A	G	18	57602497	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00215878215134446	0.16
18	55269729	A	T	18	57602497	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.712693650488629	0.506
18	55269730	A	C	18	57602498	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0352033181000631	0.36
18	55269730	A	G	18	57602498	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00511898416308312	0.148
18	55269730	A	T	18	57602498	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0402063253408715	0.384
18	55270036	A	C	18	57602804	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.28567582580797E-4	.
18	55270036	A	G	18	57602804	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.93539242007023E-4	.
18	55270036	A	T	18	57602804	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.61490733979886E-4	.
18	55270037	A	C	18	57602805	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.9885920887135E-5	.
18	55270037	A	G	18	57602805	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.9885920887135E-5	.
18	55270037	A	T	18	57602805	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.9885920887135E-5	.
18	55270038	A	C	18	57602806	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.987508566011666	.
18	55270038	A	G	18	57602806	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.986545750815585	.
18	55270038	A	T	18	57602806	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.989095091494173	.
18	55270039	C	A	18	57602807	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.9999467992547	.
18	55270039	C	G	18	57602807	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.9999467992547	.
18	55270039	C	T	18	57602807	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999983740314702	.
18	55270040	T	A	18	57602808	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999676977172994	.
18	55270040	T	C	18	57602808	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999158686804147	.
18	55270040	T	G	18	57602808	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99950476323436	.
18	55270041	G	A	18	57602809	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00131638745821605	.
18	55270041	G	C	18	57602809	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.88910621369242E-4	.
18	55270041	G	T	18	57602809	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.87000675089256E-4	.
18	55270042	A	C	18	57602810	y	y	splicing	NARS(NM_004539:exon13:c.1383+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1383+2T>G;ENST00000423481:exon11:c.636+2T>G;ENST00000586807:exon11:c.974+2T>G)	.	.	0.999914511980801	.
18	55270042	A	G	18	57602810	y	y	splicing	NARS(NM_004539:exon13:c.1383+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1383+2T>C;ENST00000423481:exon11:c.636+2T>C;ENST00000586807:exon11:c.974+2T>C)	.	.	0.999056825617324	.
18	55270042	A	T	18	57602810	y	y	splicing	NARS(NM_004539:exon13:c.1383+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1383+2T>A;ENST00000423481:exon11:c.636+2T>A;ENST00000586807:exon11:c.974+2T>A)	.	.	0.999914511980801	.
18	55270043	C	A	18	57602811	y	y	splicing	NARS(NM_004539:exon13:c.1383+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1383+1G>T;ENST00000423481:exon11:c.636+1G>T;ENST00000586807:exon11:c.974+1G>T)	.	.	0.999980697831002	.
18	55270043	C	G	18	57602811	y	y	splicing	NARS(NM_004539:exon13:c.1383+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1383+1G>C;ENST00000423481:exon11:c.636+1G>C;ENST00000586807:exon11:c.974+1G>C)	.	.	0.999980697831002	.
18	55270043	C	T	18	57602811	y	y	splicing	NARS(NM_004539:exon13:c.1383+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1383+1G>A;ENST00000423481:exon11:c.636+1G>A;ENST00000586807:exon11:c.974+1G>A)	.	.	0.999980697831002	.
18	55270044	A	C	18	57602812	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon12:c.T1383G:p.S461S;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.T636G:p.S212S;ENSG00000134440:ENST00000256854:exon12:c.T1383G:p.S461S;	1.91872786623299E-4	.
18	55270044	A	G	18	57602812	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon12:c.T1383C:p.S461S;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.T636C:p.S212S;ENSG00000134440:ENST00000256854:exon12:c.T1383C:p.S461S;	9.1188837867491E-4	.
18	55270044	A	T	18	57602812	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon12:c.T1383A:p.S461S;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.T636A:p.S212S;ENSG00000134440:ENST00000256854:exon12:c.T1383A:p.S461S;	5.43879082244405E-5	.
18	55270045	G	A	18	57602813	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.C1382T:p.S461F;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.C635T:p.S212F;ENSG00000134440:ENST00000256854:exon12:c.C1382T:p.S461F;	0.981988161221215	.
18	55270045	G	C	18	57602813	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.C1382G:p.S461C;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.C635G:p.S212C;ENSG00000134440:ENST00000256854:exon12:c.C1382G:p.S461C;	0.986814797280203	.
18	55270045	G	T	18	57602813	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.C1382A:p.S461Y;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.C635A:p.S212Y;ENSG00000134440:ENST00000256854:exon12:c.C1382A:p.S461Y;	0.984794323967119	.
18	55270046	A	C	18	57602814	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.T1381G:p.S461A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.T634G:p.S212A;ENSG00000134440:ENST00000256854:exon12:c.T1381G:p.S461A;	0.778887750958637	.
18	55270046	A	G	18	57602814	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.T1381C:p.S461P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.T634C:p.S212P;ENSG00000134440:ENST00000256854:exon12:c.T1381C:p.S461P;	0.798867893907683	.
18	55270046	A	T	18	57602814	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.T1381A:p.S461T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.T634A:p.S212T;ENSG00000134440:ENST00000256854:exon12:c.T1381A:p.S461T;	0.848691579250818	.
18	55270174	T	A	18	57602942	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.A1253T:p.D418V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.A506T:p.D169V;ENSG00000134440:ENST00000256854:exon12:c.A1253T:p.D418V;	0.910962086883732	0.778
18	55270174	T	C	18	57602942	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.A1253G:p.D418G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.A506G:p.D169G;ENSG00000134440:ENST00000256854:exon12:c.A1253G:p.D418G;	0.963441410634395	0.826
18	55270174	T	G	18	57602942	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.A1253C:p.D418A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.A506C:p.D169A;ENSG00000134440:ENST00000256854:exon12:c.A1253C:p.D418A;	0.941764815129077	0.794
18	55270175	C	A	18	57602943	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.G1252T:p.D418Y;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.G505T:p.D169Y;ENSG00000134440:ENST00000256854:exon12:c.G1252T:p.D418Y;	0.99995244583046	0.988
18	55270175	C	G	18	57602943	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.G1252C:p.D418H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.G505C:p.D169H;ENSG00000134440:ENST00000256854:exon12:c.G1252C:p.D418H;	0.999925709546505	0.974
18	55270175	C	T	18	57602943	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon12:c.G1252A:p.D418N;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon10:c.G505A:p.D169N;ENSG00000134440:ENST00000256854:exon12:c.G1252A:p.D418N;	0.999824233236305	0.91
18	55270176	C	A	18	57602944	y	y	splicing	NARS(NM_004539:exon13:c.1252-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1252-1G>T;ENST00000423481:exon11:c.505-1G>T;ENST00000586807:exon11:c.843-1G>T)	.	.	0.999992425382947	0.94
18	55270176	C	G	18	57602944	y	y	splicing	NARS(NM_004539:exon13:c.1252-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1252-1G>C;ENST00000423481:exon11:c.505-1G>C;ENST00000586807:exon11:c.843-1G>C)	.	.	0.999992425382947	0.94
18	55270176	C	T	18	57602944	y	y	splicing	NARS(NM_004539:exon13:c.1252-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1252-1G>A;ENST00000423481:exon11:c.505-1G>A;ENST00000586807:exon11:c.843-1G>A)	.	.	0.999992425382947	0.94
18	55270177	T	A	18	57602945	y	y	splicing	NARS(NM_004539:exon13:c.1252-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1252-2A>T;ENST00000423481:exon11:c.505-2A>T;ENST00000586807:exon11:c.843-2A>T)	.	.	0.999990764389106	0.942
18	55270177	T	C	18	57602945	y	y	splicing	NARS(NM_004539:exon13:c.1252-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1252-2A>G;ENST00000423481:exon11:c.505-2A>G;ENST00000586807:exon11:c.843-2A>G)	.	.	0.999990764389106	0.942
18	55270177	T	G	18	57602945	y	y	splicing	NARS(NM_004539:exon13:c.1252-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon13:c.1252-2A>C;ENST00000423481:exon11:c.505-2A>C;ENST00000586807:exon11:c.843-2A>C)	.	.	0.999990764389106	0.942
18	55270178	G	A	18	57602946	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0565750061226778	0.296
18	55270178	G	C	18	57602946	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999905047867997	0.996
18	55270178	G	T	18	57602946	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.997590812981687	0.932
18	55270179	A	C	18	57602947	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.04109362252056E-5	0.002
18	55270179	A	G	18	57602947	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.87820689386019E-5	0.03
18	55270179	A	T	18	57602947	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.99823663543078E-4	0.002
18	55270180	G	A	18	57602948	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0131553812905967	0.144
18	55270180	G	C	18	57602948	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.886309259175239	0.562
18	55270180	G	T	18	57602948	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.959989735407547	0.538
18	55270181	G	A	18	57602949	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.434913002092861	0.318
18	55270181	G	C	18	57602949	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999946693521319	0.98
18	55270181	G	T	18	57602949	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.982930497213372	0.694
18	55270182	T	A	18	57602950	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.58163363968138E-4	0.01
18	55270182	T	C	18	57602950	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.258575444185E-4	0.012
18	55270182	T	G	18	57602950	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.7485469169334E-4	0.008
18	55270183	C	A	18	57602951	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.19094982617635E-5	0.006
18	55270183	C	G	18	57602951	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.26075798717558E-5	0.0
18	55270183	C	T	18	57602951	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.7459910163107E-4	0.066
18	55270184	A	C	18	57602952	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.990812378475492	0.91
18	55270184	A	G	18	57602952	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0857468466712804	0.172
18	55270184	A	T	18	57602952	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999983113486576	0.972
18	55270185	A	C	18	57602953	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.747548946227599	0.502
18	55270185	A	G	18	57602953	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.41667780317749E-5	0.072
18	55270185	A	T	18	57602953	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.871605802971403	0.518
18	55270186	A	C	18	57602954	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99531822337746	0.86
18	55270186	A	G	18	57602954	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.870171986652045	0.472
18	55270186	A	T	18	57602954	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99907007853609	0.904
18	55270187	C	A	18	57602955	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.76675478159088E-5	0.04
18	55270187	C	G	18	57602955	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.76675478159088E-5	0.024
18	55270187	C	T	18	57602955	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.33600656869384E-4	0.04
18	55273081	A	C	18	57605849	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00445537206121543	0.016
18	55273081	A	G	18	57605849	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00607603732888608	0.024
18	55273081	A	T	18	57605849	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00386005424078123	0.03
18	55273082	T	A	18	57605850	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.04468591514309E-4	0.014
18	55273082	T	C	18	57605850	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.41773491444801E-5	0.01
18	55273082	T	G	18	57605850	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.68093360543352E-4	0.004
18	55273083	A	C	18	57605851	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.74405002398421	0.642
18	55273083	A	G	18	57605851	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.562165832284989	0.44
18	55273083	A	T	18	57605851	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.750971064603004	0.52
18	55273084	C	A	18	57605852	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999969344333413	0.962
18	55273084	C	G	18	57605852	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999972959441825	0.972
18	55273084	C	T	18	57605852	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999991688594647	0.984
18	55273085	A	C	18	57605853	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.38705823187304E-5	0.084
18	55273085	A	G	18	57605853	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.18964684661225E-5	0.036
18	55273085	A	T	18	57605853	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.1889485408532E-4	0.034
18	55273086	T	A	18	57605854	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999974021584558	0.952
18	55273086	T	C	18	57605854	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998788808487833	0.926
18	55273086	T	G	18	57605854	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999935847476554	0.964
18	55273087	A	C	18	57605855	y	y	splicing	NARS(NM_004539:exon12:c.1251+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1251+2T>G;ENST00000423481:exon10:c.504+2T>G;ENST00000586807:exon10:c.842+2T>G)	.	.	0.999988247793601	0.922
18	55273087	A	G	18	57605855	y	y	splicing	NARS(NM_004539:exon12:c.1251+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1251+2T>C;ENST00000423481:exon10:c.504+2T>C;ENST00000586807:exon10:c.842+2T>C)	.	.	0.992783534660112	0.702
18	55273087	A	T	18	57605855	y	y	splicing	NARS(NM_004539:exon12:c.1251+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1251+2T>A;ENST00000423481:exon10:c.504+2T>A;ENST00000586807:exon10:c.842+2T>A)	.	.	0.999988247793601	0.922
18	55273088	C	A	18	57605856	y	y	splicing	NARS(NM_004539:exon12:c.1251+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1251+1G>T;ENST00000423481:exon10:c.504+1G>T;ENST00000586807:exon10:c.842+1G>T)	.	.	0.999990361384395	0.932
18	55273088	C	G	18	57605856	y	y	splicing	NARS(NM_004539:exon12:c.1251+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1251+1G>C;ENST00000423481:exon10:c.504+1G>C;ENST00000586807:exon10:c.842+1G>C)	.	.	0.999990361384395	0.932
18	55273088	C	T	18	57605856	y	y	splicing	NARS(NM_004539:exon12:c.1251+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1251+1G>A;ENST00000423481:exon10:c.504+1G>A;ENST00000586807:exon10:c.842+1G>A)	.	.	0.999990361384395	0.932
18	55273089	T	A	18	57605857	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1251T:p.E417D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A504T:p.E168D;ENSG00000134440:ENST00000256854:exon11:c.A1251T:p.E417D;	7.95025678912309E-4	0.168
18	55273089	T	C	18	57605857	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon11:c.A1251G:p.E417E;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A504G:p.E168E;ENSG00000134440:ENST00000256854:exon11:c.A1251G:p.E417E;	4.85812098592655E-4	0.062
18	55273089	T	G	18	57605857	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1251C:p.E417D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A504C:p.E168D;ENSG00000134440:ENST00000256854:exon11:c.A1251C:p.E417D;	9.14216049740256E-5	0.024
18	55273090	T	A	18	57605858	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1250T:p.E417V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A503T:p.E168V;ENSG00000134440:ENST00000256854:exon11:c.A1250T:p.E417V;	0.99994662349994	1.0
18	55273090	T	C	18	57605858	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1250G:p.E417G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A503G:p.E168G;ENSG00000134440:ENST00000256854:exon11:c.A1250G:p.E417G;	0.999958723867121	0.998
18	55273090	T	G	18	57605858	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1250C:p.E417A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A503C:p.E168A;ENSG00000134440:ENST00000256854:exon11:c.A1250C:p.E417A;	0.999916460205493	0.982
18	55273091	C	A	18	57605859	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon11:c.G1249T:p.E417X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000423481:exon9:c.G502T:p.E168X;ENSG00000134440:ENST00000256854:exon11:c.G1249T:p.E417X;	0.989225012106485	0.79
18	55273091	C	G	18	57605859	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.G1249C:p.E417Q;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.G502C:p.E168Q;ENSG00000134440:ENST00000256854:exon11:c.G1249C:p.E417Q;	0.950852787041523	0.744
18	55273091	C	T	18	57605859	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.G1249A:p.E417K;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.G502A:p.E168K;ENSG00000134440:ENST00000256854:exon11:c.G1249A:p.E417K;	0.947424617869672	0.752
18	55273201	T	A	18	57605969	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1139T:p.N380I;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A392T:p.N131I;ENSG00000134440:ENST00000256854:exon11:c.A1139T:p.N380I;	9.34622716582569E-4	0.09
18	55273201	T	C	18	57605969	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1139G:p.N380S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A392G:p.N131S;ENSG00000134440:ENST00000256854:exon11:c.A1139G:p.N380S;	7.08475836190547E-4	0.014
18	55273201	T	G	18	57605969	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1139C:p.N380T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A392C:p.N131T;ENSG00000134440:ENST00000256854:exon11:c.A1139C:p.N380T;	4.5541790153269E-4	0.036
18	55273202	T	A	18	57605970	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1138T:p.N380Y;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A391T:p.N131Y;ENSG00000134440:ENST00000256854:exon11:c.A1138T:p.N380Y;	0.235984250963815	0.476
18	55273202	T	C	18	57605970	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1138G:p.N380D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A391G:p.N131D;ENSG00000134440:ENST00000256854:exon11:c.A1138G:p.N380D;	2.4227646005868E-4	0.01
18	55273202	T	G	18	57605970	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon11:c.A1138C:p.N380H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon9:c.A391C:p.N131H;ENSG00000134440:ENST00000256854:exon11:c.A1138C:p.N380H;	0.0106904672573753	0.114
18	55273203	C	A	18	57605971	y	y	splicing	NARS(NM_004539:exon12:c.1138-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1138-1G>T;ENST00000423481:exon10:c.391-1G>T;ENST00000586807:exon10:c.729-1G>T)	.	.	0.999990361384395	0.936
18	55273203	C	G	18	57605971	y	y	splicing	NARS(NM_004539:exon12:c.1138-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1138-1G>C;ENST00000423481:exon10:c.391-1G>C;ENST00000586807:exon10:c.729-1G>C)	.	.	0.999990361384395	0.936
18	55273203	C	T	18	57605971	y	y	splicing	NARS(NM_004539:exon12:c.1138-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1138-1G>A;ENST00000423481:exon10:c.391-1G>A;ENST00000586807:exon10:c.729-1G>A)	.	.	0.999990361384395	0.936
18	55273204	T	A	18	57605972	y	y	splicing	NARS(NM_004539:exon12:c.1138-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1138-2A>T;ENST00000423481:exon10:c.391-2A>T;ENST00000586807:exon10:c.729-2A>T)	.	.	0.99994568797423	0.934
18	55273204	T	C	18	57605972	y	y	splicing	NARS(NM_004539:exon12:c.1138-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1138-2A>G;ENST00000423481:exon10:c.391-2A>G;ENST00000586807:exon10:c.729-2A>G)	.	.	0.99994568797423	0.944
18	55273204	T	G	18	57605972	y	y	splicing	NARS(NM_004539:exon12:c.1138-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon12:c.1138-2A>C;ENST00000423481:exon10:c.391-2A>C;ENST00000586807:exon10:c.729-2A>C)	.	.	0.99994568797423	0.944
18	55273205	A	C	18	57605973	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.970990988846701	0.684
18	55273205	A	G	18	57605973	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.51334659450444E-5	0.002
18	55273205	A	T	18	57605973	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0127718202321554	0.142
18	55273206	C	A	18	57605974	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.73608177447732E-6	0.0
18	55273206	C	G	18	57605974	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.90148105439147E-6	0.0
18	55273206	C	T	18	57605974	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.56905983315697E-5	0.0
18	55273207	A	C	18	57605975	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00548908265016883	0.266
18	55273207	A	G	18	57605975	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.43401592134587E-4	0.048
18	55273207	A	T	18	57605975	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999859436107493	0.932
18	55273208	G	A	18	57605976	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.45625063887189E-5	0.002
18	55273208	G	C	18	57605976	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.27922688542819E-4	0.02
18	55273208	G	T	18	57605976	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.52097970111683E-4	0.022
18	55273209	A	C	18	57605977	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.42633267419366E-5	0.006
18	55273209	A	G	18	57605977	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.43668138390625E-5	0.004
18	55273209	A	T	18	57605977	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.76628408299177E-5	0.022
18	55273210	A	C	18	57605978	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.05642240282676E-4	0.084
18	55273210	A	G	18	57605978	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.68162162195687E-5	0.0
18	55273210	A	T	18	57605978	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.93686276913394E-4	0.06
18	55273211	G	A	18	57605979	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.43649837287092E-6	0.0
18	55273211	G	C	18	57605979	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.27512537478962E-4	0.018
18	55273211	G	T	18	57605979	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.4342180778349E-4	0.014
18	55273212	A	C	18	57605980	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.18600797408917E-4	0.104
18	55273212	A	G	18	57605980	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.91588965830993E-4	0.0
18	55273212	A	T	18	57605980	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00113655586929923	0.13
18	55273213	A	C	18	57605981	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.95321936210071E-4	0.198
18	55273213	A	G	18	57605981	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.30917016580416E-4	0.078
18	55273213	A	T	18	57605981	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0101296962231848	0.212
18	55273214	A	C	18	57605982	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.98762024768715E-4	0.144
18	55273214	A	G	18	57605982	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.38596362310941E-4	0.01
18	55273214	A	T	18	57605982	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.21814129525083E-4	0.112
18	55273840	G	A	18	57606608	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.99860229263567E-5	0.0
18	55273840	G	C	18	57606608	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.22017115464606E-5	0.034
18	55273840	G	T	18	57606608	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.58579294160366E-5	0.002
18	55273841	C	A	18	57606609	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.11051055797707E-5	0.0
18	55273841	C	G	18	57606609	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.78958691012223E-5	0.0
18	55273841	C	T	18	57606609	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.07014835428848E-5	0.0
18	55273842	A	C	18	57606610	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0180059613459694	0.234
18	55273842	A	G	18	57606610	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0192362063141926	0.296
18	55273842	A	T	18	57606610	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.016822583226427	0.244
18	55273843	C	A	18	57606611	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999988833501753	0.984
18	55273843	C	G	18	57606611	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999959487389985	0.956
18	55273843	C	T	18	57606611	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999980054094098	0.912
18	55273844	C	A	18	57606612	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.89736850000029E-4	0.038
18	55273844	C	G	18	57606612	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00109399258543209	0.114
18	55273844	C	T	18	57606612	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.11077132451561E-4	0.076
18	55273845	T	A	18	57606613	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.988457549147158	0.836
18	55273845	T	C	18	57606613	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.107196388394708	0.38
18	55273845	T	G	18	57606613	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.983953530608537	0.784
18	55273846	A	C	18	57606614	y	y	splicing	NARS(NM_004539:exon11:c.1137+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1137+2T>G;ENST00000423481:exon9:c.390+2T>G;ENST00000586807:exon9:c.728+2T>G)	.	.	0.999988247793601	0.93
18	55273846	A	G	18	57606614	y	y	splicing	NARS(NM_004539:exon11:c.1137+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1137+2T>C;ENST00000423481:exon9:c.390+2T>C;ENST00000586807:exon9:c.728+2T>C)	.	.	0.98918007292081	0.692
18	55273846	A	T	18	57606614	y	y	splicing	NARS(NM_004539:exon11:c.1137+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1137+2T>A;ENST00000423481:exon9:c.390+2T>A;ENST00000586807:exon9:c.728+2T>A)	.	.	0.999988247793601	0.93
18	55273847	C	A	18	57606615	y	y	splicing	NARS(NM_004539:exon11:c.1137+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1137+1G>T;ENST00000423481:exon9:c.390+1G>T;ENST00000586807:exon9:c.728+1G>T)	.	.	0.999990361384395	0.936
18	55273847	C	G	18	57606615	y	y	splicing	NARS(NM_004539:exon11:c.1137+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1137+1G>C;ENST00000423481:exon9:c.390+1G>C;ENST00000586807:exon9:c.728+1G>C)	.	.	0.999990361384395	0.936
18	55273847	C	T	18	57606615	y	y	splicing	NARS(NM_004539:exon11:c.1137+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1137+1G>A;ENST00000423481:exon9:c.390+1G>A;ENST00000586807:exon9:c.728+1G>A)	.	.	0.999990361384395	0.936
18	55273848	C	A	18	57606616	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon10:c.G1137T:p.P379P;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.G390T:p.P130P;ENSG00000134440:ENST00000256854:exon10:c.G1137T:p.P379P;	0.999762916545109	0.952
18	55273848	C	G	18	57606616	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon10:c.G1137C:p.P379P;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.G390C:p.P130P;ENSG00000134440:ENST00000256854:exon10:c.G1137C:p.P379P;	0.999991382530466	0.864
18	55273848	C	T	18	57606616	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon10:c.G1137A:p.P379P;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.G390A:p.P130P;ENSG00000134440:ENST00000256854:exon10:c.G1137A:p.P379P;	0.99991620933068	0.98
18	55273849	G	A	18	57606617	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.C1136T:p.P379L;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.C389T:p.P130L;ENSG00000134440:ENST00000256854:exon10:c.C1136T:p.P379L;	0.994694416792777	0.912
18	55273849	G	C	18	57606617	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.C1136G:p.P379R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.C389G:p.P130R;ENSG00000134440:ENST00000256854:exon10:c.C1136G:p.P379R;	0.989310605562569	0.874
18	55273849	G	T	18	57606617	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.C1136A:p.P379Q;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.C389A:p.P130Q;ENSG00000134440:ENST00000256854:exon10:c.C1136A:p.P379Q;	0.9697384716278	0.75
18	55273850	G	A	18	57606618	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.C1135T:p.P379S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.C388T:p.P130S;ENSG00000134440:ENST00000256854:exon10:c.C1135T:p.P379S;	0.998608748089098	0.722
18	55273850	G	C	18	57606618	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.C1135G:p.P379A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.C388G:p.P130A;ENSG00000134440:ENST00000256854:exon10:c.C1135G:p.P379A;	0.957065567545902	0.646
18	55273850	G	T	18	57606618	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.C1135A:p.P379T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.C388A:p.P130T;ENSG00000134440:ENST00000256854:exon10:c.C1135A:p.P379T;	0.951399969904223	0.818
18	55273982	A	C	18	57606750	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.T1003G:p.Y335D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.T256G:p.Y86D;ENSG00000134440:ENST00000256854:exon10:c.T1003G:p.Y335D;	0.71451206955029	0.53
18	55273982	A	G	18	57606750	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.T1003C:p.Y335H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.T256C:p.Y86H;ENSG00000134440:ENST00000256854:exon10:c.T1003C:p.Y335H;	0.629159877151993	0.572
18	55273982	A	T	18	57606750	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.T1003A:p.Y335N;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.T256A:p.Y86N;ENSG00000134440:ENST00000256854:exon10:c.T1003A:p.Y335N;	0.481610190642505	0.518
18	55273983	C	A	18	57606751	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.G1002T:p.E334D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.G255T:p.E85D;ENSG00000134440:ENST00000256854:exon10:c.G1002T:p.E334D;	0.970897408588144	0.552
18	55273983	C	G	18	57606751	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon10:c.G1002C:p.E334D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.G255C:p.E85D;ENSG00000134440:ENST00000256854:exon10:c.G1002C:p.E334D;	0.708412249629409	0.44
18	55273983	C	T	18	57606751	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon10:c.G1002A:p.E334E;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon8:c.G255A:p.E85E;ENSG00000134440:ENST00000256854:exon10:c.G1002A:p.E334E;	3.64006882052199E-4	0.026
18	55273984	C	A	18	57606752	y	y	splicing	NARS(NM_004539:exon11:c.1002-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1002-1G>T;ENST00000423481:exon9:c.255-1G>T;ENST00000586807:exon9:c.593-1G>T)	.	.	0.999982737877662	0.938
18	55273984	C	G	18	57606752	y	y	splicing	NARS(NM_004539:exon11:c.1002-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1002-1G>C;ENST00000423481:exon9:c.255-1G>C;ENST00000586807:exon9:c.593-1G>C)	.	.	0.999982737877662	0.932
18	55273984	C	T	18	57606752	y	y	splicing	NARS(NM_004539:exon11:c.1002-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1002-1G>A;ENST00000423481:exon9:c.255-1G>A;ENST00000586807:exon9:c.593-1G>A)	.	.	0.999982737877662	0.938
18	55273985	T	A	18	57606753	y	y	splicing	NARS(NM_004539:exon11:c.1002-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1002-2A>T;ENST00000423481:exon9:c.255-2A>T;ENST00000586807:exon9:c.593-2A>T)	.	.	0.99994568797423	0.934
18	55273985	T	C	18	57606753	y	y	splicing	NARS(NM_004539:exon11:c.1002-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1002-2A>G;ENST00000423481:exon9:c.255-2A>G;ENST00000586807:exon9:c.593-2A>G)	.	.	0.99994568797423	0.944
18	55273985	T	G	18	57606753	y	y	splicing	NARS(NM_004539:exon11:c.1002-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon11:c.1002-2A>C;ENST00000423481:exon9:c.255-2A>C;ENST00000586807:exon9:c.593-2A>C)	.	.	0.99994568797423	0.944
18	55273986	G	A	18	57606754	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00349835937566196	0.106
18	55273986	G	C	18	57606754	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999731744056653	0.968
18	55273986	G	T	18	57606754	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.422989389436521	0.484
18	55273987	A	C	18	57606755	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.30477579161392E-5	0.0
18	55273987	A	G	18	57606755	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.30483809892E-5	0.002
18	55273987	A	T	18	57606755	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.42798921685461E-5	0.0
18	55273988	A	C	18	57606756	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0170190576181733	0.222
18	55273988	A	G	18	57606756	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.45344752745985E-5	0.0
18	55273988	A	T	18	57606756	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00921930559297802	0.172
18	55273989	G	A	18	57606757	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.52248344043877E-5	0.022
18	55273989	G	C	18	57606757	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00209371868373532	0.122
18	55273989	G	T	18	57606757	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00203509270514495	0.124
18	55273990	A	C	18	57606758	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00276950286581559	0.034
18	55273990	A	G	18	57606758	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.28603237892531E-5	0.0
18	55273990	A	T	18	57606758	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00675570546999309	0.06
18	55273991	A	C	18	57606759	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0186773471205346	0.224
18	55273991	A	G	18	57606759	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00160687213745825	0.066
18	55273991	A	T	18	57606759	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.143707581986348	0.336
18	55273992	C	A	18	57606760	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.52424120427103E-6	0.0
18	55273992	C	G	18	57606760	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.33651578538099E-6	0.0
18	55273992	C	T	18	57606760	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.44560851431878E-5	0.0
18	55273993	G	A	18	57606761	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.61179478252125E-5	0.0
18	55273993	G	C	18	57606761	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.17522096488558E-4	0.044
18	55273993	G	T	18	57606761	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.987666913356448	0.86
18	55273994	A	C	18	57606762	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0199268995170448	0.282
18	55273994	A	G	18	57606762	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.9308084926193E-4	0.064
18	55273994	A	T	18	57606762	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0531149459732303	0.302
18	55273995	G	A	18	57606763	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.84745620727348E-5	0.002
18	55273995	G	C	18	57606763	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.32873963148341E-5	0.004
18	55273995	G	T	18	57606763	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.12266434356546E-5	0.006
18	55274358	C	A	18	57607126	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.09185406553421E-5	0.0
18	55274358	C	G	18	57607126	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.09185406553421E-5	0.0
18	55274358	C	T	18	57607126	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.17403870497182E-5	0.0
18	55274359	T	A	18	57607127	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.64745399314608E-5	0.002
18	55274359	T	C	18	57607127	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.64745399314608E-5	0.01
18	55274359	T	G	18	57607127	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.49987850486752E-5	0.002
18	55274360	T	A	18	57607128	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.32298138044174E-4	0.084
18	55274360	T	C	18	57607128	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.96139273815145E-4	0.056
18	55274360	T	G	18	57607128	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.61102953014383E-4	0.25
18	55274361	C	A	18	57607129	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999348992196003	0.834
18	55274361	C	G	18	57607129	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999348992196003	0.846
18	55274361	C	T	18	57607129	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999777144918262	0.846
18	55274362	A	C	18	57607130	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00275661509999767	0.148
18	55274362	A	G	18	57607130	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.35145960733421E-4	0.242
18	55274362	A	T	18	57607130	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.7855886324029E-4	0.076
18	55274363	T	A	18	57607131	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999920987498992	0.92
18	55274363	T	C	18	57607131	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998043990647747	0.814
18	55274363	T	G	18	57607131	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999899107078222	0.904
18	55274364	A	C	18	57607132	y	y	splicing	NARS(NM_004539:exon10:c.1001+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.1001+2T>G;ENST00000423481:exon8:c.254+2T>G;ENST00000586807:exon8:c.592+2T>G)	.	.	0.999914511980801	0.886
18	55274364	A	G	18	57607132	y	y	splicing	NARS(NM_004539:exon10:c.1001+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.1001+2T>C;ENST00000423481:exon8:c.254+2T>C;ENST00000586807:exon8:c.592+2T>C)	.	.	0.999280536362755	0.856
18	55274364	A	T	18	57607132	y	y	splicing	NARS(NM_004539:exon10:c.1001+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.1001+2T>A;ENST00000423481:exon8:c.254+2T>A;ENST00000586807:exon8:c.592+2T>A)	.	.	0.999914511980801	0.886
18	55274365	C	A	18	57607133	y	y	splicing	NARS(NM_004539:exon10:c.1001+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.1001+1G>T;ENST00000423481:exon8:c.254+1G>T;ENST00000586807:exon8:c.592+1G>T)	.	.	0.999946414302413	0.872
18	55274365	C	G	18	57607133	y	y	splicing	NARS(NM_004539:exon10:c.1001+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.1001+1G>C;ENST00000423481:exon8:c.254+1G>C;ENST00000586807:exon8:c.592+1G>C)	.	.	0.999946414302413	0.872
18	55274365	C	T	18	57607133	y	y	splicing	NARS(NM_004539:exon10:c.1001+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.1001+1G>A;ENST00000423481:exon8:c.254+1G>A;ENST00000586807:exon8:c.592+1G>A)	.	.	0.999946414302413	0.872
18	55274366	T	A	18	57607134	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.A1001T:p.E334V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.A254T:p.E85V;ENSG00000134440:ENST00000256854:exon9:c.A1001T:p.E334V;	0.905677152105299	0.62
18	55274366	T	C	18	57607134	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.A1001G:p.E334G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.A254G:p.E85G;ENSG00000134440:ENST00000256854:exon9:c.A1001G:p.E334G;	0.532722363008072	0.4
18	55274366	T	G	18	57607134	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.A1001C:p.E334A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.A254C:p.E85A;ENSG00000134440:ENST00000256854:exon9:c.A1001C:p.E334A;	0.550427455858107	0.67
18	55274367	C	A	18	57607135	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon9:c.G1000T:p.E334X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000423481:exon7:c.G253T:p.E85X;ENSG00000134440:ENST00000256854:exon9:c.G1000T:p.E334X;	0.993726217252695	0.758
18	55274367	C	G	18	57607135	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.G1000C:p.E334Q;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.G253C:p.E85Q;ENSG00000134440:ENST00000256854:exon9:c.G1000C:p.E334Q;	0.990560139474151	0.79
18	55274367	C	T	18	57607135	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.G1000A:p.E334K;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.G253A:p.E85K;ENSG00000134440:ENST00000256854:exon9:c.G1000A:p.E334K;	0.979348750047102	0.67
18	55274368	A	C	18	57607136	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon9:c.T999G:p.A333A;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.T252G:p.A84A;ENSG00000134440:ENST00000256854:exon9:c.T999G:p.A333A;	1.06896218315421E-4	0.052
18	55274368	A	G	18	57607136	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon9:c.T999C:p.A333A;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.T252C:p.A84A;ENSG00000134440:ENST00000256854:exon9:c.T999C:p.A333A;	1.79370089891179E-4	0.07
18	55274368	A	T	18	57607136	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon9:c.T999A:p.A333A;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.T252A:p.A84A;ENSG00000134440:ENST00000256854:exon9:c.T999A:p.A333A;	1.79370089891179E-4	0.068
18	55274564	A	C	18	57607332	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.T803G:p.V268G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.T56G:p.V19G;ENSG00000134440:ENST00000586807:exon7:c.T394G:p.L132V;ENSG00000134440:ENST00000256854:exon9:c.T803G:p.V268G;	0.640822768469122	0.394
18	55274564	A	G	18	57607332	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.T803C:p.V268A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.T56C:p.V19A;ENSG00000134440:ENST00000256854:exon9:c.T803C:p.V268A;	0.628877350750448	0.398
18	55274564	A	T	18	57607332	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.T803A:p.V268D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.T56A:p.V19D;ENSG00000134440:ENST00000586807:exon7:c.T394A:p.L132I;ENSG00000134440:ENST00000256854:exon9:c.T803A:p.V268D;	0.66726895085224	0.402
18	55274565	C	A	18	57607333	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.G802T:p.V268F;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.G55T:p.V19F;ENSG00000134440:ENST00000586807:exon7:c.G393T:p.K131N;ENSG00000134440:ENST00000256854:exon9:c.G802T:p.V268F;	0.977658150256619	0.65
18	55274565	C	G	18	57607333	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.G802C:p.V268L;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.G55C:p.V19L;ENSG00000134440:ENST00000586807:exon7:c.G393C:p.K131N;ENSG00000134440:ENST00000256854:exon9:c.G802C:p.V268L;	0.523393642375969	0.492
18	55274565	C	T	18	57607333	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon9:c.G802A:p.V268I;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon7:c.G55A:p.V19I;ENSG00000134440:ENST00000256854:exon9:c.G802A:p.V268I;	0.0492291417320407	0.272
18	55274566	C	A	18	57607334	y	y	splicing	NARS(NM_004539:exon10:c.802-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.802-1G>T;ENST00000423481:exon8:c.55-1G>T;ENST00000586807:exon8:c.393-1G>T;ENST00000540592:exon9:c.731-1G>T)	.	.	0.999980303772886	0.906
18	55274566	C	G	18	57607334	y	y	splicing	NARS(NM_004539:exon10:c.802-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.802-1G>C;ENST00000423481:exon8:c.55-1G>C;ENST00000586807:exon8:c.393-1G>C;ENST00000540592:exon9:c.731-1G>C)	.	.	0.999980303772886	0.906
18	55274566	C	T	18	57607334	y	y	splicing	NARS(NM_004539:exon10:c.802-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.802-1G>A;ENST00000423481:exon8:c.55-1G>A;ENST00000586807:exon8:c.393-1G>A;ENST00000540592:exon9:c.731-1G>A)	.	.	0.999980303772886	0.906
18	55274567	T	A	18	57607335	y	y	splicing	NARS(NM_004539:exon10:c.802-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.802-2A>T;ENST00000423481:exon8:c.55-2A>T;ENST00000586807:exon8:c.393-2A>T;ENST00000540592:exon9:c.731-2A>T)	.	.	0.999979394981131	0.908
18	55274567	T	C	18	57607335	y	y	splicing	NARS(NM_004539:exon10:c.802-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.802-2A>G;ENST00000423481:exon8:c.55-2A>G;ENST00000586807:exon8:c.393-2A>G;ENST00000540592:exon9:c.731-2A>G)	.	.	0.999979394981131	0.908
18	55274567	T	G	18	57607335	y	y	splicing	NARS(NM_004539:exon10:c.802-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon10:c.802-2A>C;ENST00000423481:exon8:c.55-2A>C;ENST00000586807:exon8:c.393-2A>C;ENST00000540592:exon9:c.731-2A>C)	.	.	0.999979394981131	0.908
18	55274568	G	A	18	57607336	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00108676787205649	0.07
18	55274568	G	C	18	57607336	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.995719002173485	0.686
18	55274568	G	T	18	57607336	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.41659329613337	0.518
18	55274569	T	A	18	57607337	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.00781094378729E-4	0.072
18	55274569	T	C	18	57607337	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.951949879709388	0.722
18	55274569	T	G	18	57607337	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.06975103343917E-4	0.008
18	55274570	T	A	18	57607338	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.27899182702214E-5	0.028
18	55274570	T	C	18	57607338	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.91566131983075E-5	0.014
18	55274570	T	G	18	57607338	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.39238242216291E-5	0.008
18	55274571	C	A	18	57607339	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.61373745970777E-4	0.012
18	55274571	C	G	18	57607339	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.61373745970777E-4	0.008
18	55274571	C	T	18	57607339	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.48436537550902E-4	0.018
18	55274572	A	C	18	57607340	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.045192285405443	0.214
18	55274572	A	G	18	57607340	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.84458898638158E-4	0.052
18	55274572	A	T	18	57607340	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999505035319451	0.96
18	55274573	A	C	18	57607341	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00336896576663642	0.252
18	55274573	A	G	18	57607341	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.08630706778296E-5	0.004
18	55274573	A	T	18	57607341	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0371975858330353	0.188
18	55274574	A	C	18	57607342	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999959905005927	0.984
18	55274574	A	G	18	57607342	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.55558306612605E-4	0.068
18	55274574	A	T	18	57607342	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0259954167581069	0.348
18	55274575	T	A	18	57607343	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.20238012469216E-5	0.018
18	55274575	T	C	18	57607343	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.42908971702205E-5	0.006
18	55274575	T	G	18	57607343	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.02624169861554E-5	0.004
18	55274576	G	A	18	57607344	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.40880678408656E-4	0.024
18	55274576	G	C	18	57607344	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00413961973841966	0.072
18	55274576	G	T	18	57607344	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00397476357279485	0.082
18	55274577	C	A	18	57607345	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.61327626129568E-5	0.0
18	55274577	C	G	18	57607345	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.61327626129568E-5	0.0
18	55274577	C	T	18	57607345	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.30682242922008E-4	0.02
18	55274668	A	C	18	57607436	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.89271690551893E-5	0.004
18	55274668	A	G	18	57607436	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.84840193822534E-4	0.014
18	55274668	A	T	18	57607436	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.01336114310457E-5	0.002
18	55274669	T	A	18	57607437	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.90256109741103E-5	0.01
18	55274669	T	C	18	57607437	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.01174165683835E-5	0.0
18	55274669	T	G	18	57607437	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.01174165683835E-5	0.0
18	55274670	A	C	18	57607438	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.301422965794599	0.534
18	55274670	A	G	18	57607438	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.236317539671014	0.486
18	55274670	A	T	18	57607438	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.790195681591349	0.596
18	55274671	C	A	18	57607439	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99978943221202	0.916
18	55274671	C	G	18	57607439	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998514368168697	0.712
18	55274671	C	T	18	57607439	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.997647794789334	0.938
18	55274672	T	A	18	57607440	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.959986516491123	0.56
18	55274672	T	C	18	57607440	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.933229570303323	0.618
18	55274672	T	G	18	57607440	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.713050232444383	0.486
18	55274673	T	A	18	57607441	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.994070487733458	0.686
18	55274673	T	C	18	57607441	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00112779226151528	0.068
18	55274673	T	G	18	57607441	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999649621358058	0.824
18	55274674	A	C	18	57607442	y	y	splicing	NARS(NM_004539:exon9:c.801+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.801+2T>G;ENST00000423481:exon7:c.54+2T>G;ENST00000586807:exon7:c.392+2T>G;ENST00000540592:exon8:c.730+2T>G)	.	.	0.99994568797423	0.932
18	55274674	A	G	18	57607442	y	y	splicing	NARS(NM_004539:exon9:c.801+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.801+2T>C;ENST00000423481:exon7:c.54+2T>C;ENST00000586807:exon7:c.392+2T>C;ENST00000540592:exon8:c.730+2T>C)	.	.	0.991052614323764	0.72
18	55274674	A	T	18	57607442	y	y	splicing	NARS(NM_004539:exon9:c.801+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.801+2T>A;ENST00000423481:exon7:c.54+2T>A;ENST00000586807:exon7:c.392+2T>A;ENST00000540592:exon8:c.730+2T>A)	.	.	0.999978952611685	0.934
18	55274675	C	A	18	57607443	y	y	splicing	NARS(NM_004539:exon9:c.801+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.801+1G>T;ENST00000423481:exon7:c.54+1G>T;ENST00000586807:exon7:c.392+1G>T;ENST00000540592:exon8:c.730+1G>T)	.	.	0.99995545544995	0.948
18	55274675	C	G	18	57607443	y	y	splicing	NARS(NM_004539:exon9:c.801+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.801+1G>C;ENST00000423481:exon7:c.54+1G>C;ENST00000586807:exon7:c.392+1G>C;ENST00000540592:exon8:c.730+1G>C)	.	.	0.99995545544995	0.948
18	55274675	C	T	18	57607443	y	y	splicing	NARS(NM_004539:exon9:c.801+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.801+1G>A;ENST00000423481:exon7:c.54+1G>A;ENST00000586807:exon7:c.392+1G>A;ENST00000540592:exon8:c.730+1G>A)	.	.	0.99995545544995	0.944
18	55274676	T	A	18	57607444	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.A801T:p.E267D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon6:c.A54T:p.E18D;ENSG00000134440:ENST00000586807:exon6:c.A392T:p.K131M;ENSG00000134440:ENST00000256854:exon8:c.A801T:p.E267D;	1.07085441633952E-4	0.07
18	55274676	T	C	18	57607444	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon8:c.A801G:p.E267E;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon6:c.A392G:p.K131R;	3.86064686492035E-5	0.026
18	55274676	T	G	18	57607444	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.A801C:p.E267D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon6:c.A54C:p.E18D;ENSG00000134440:ENST00000586807:exon6:c.A392C:p.K131T;ENSG00000134440:ENST00000256854:exon8:c.A801C:p.E267D;	1.11535685721512E-5	0.088
18	55274677	T	A	18	57607445	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.A800T:p.E267V;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000586807:exon6:c.A391T:p.K131X;	0.998549100976722	0.954
18	55274677	T	C	18	57607445	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.A800G:p.E267G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon6:c.A53G:p.E18G;ENSG00000134440:ENST00000586807:exon6:c.A391G:p.K131E;ENSG00000134440:ENST00000256854:exon8:c.A800G:p.E267G;	0.992359175980579	0.888
18	55274677	T	G	18	57607445	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.A800C:p.E267A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon6:c.A53C:p.E18A;ENSG00000134440:ENST00000586807:exon6:c.A391C:p.K131Q;ENSG00000134440:ENST00000256854:exon8:c.A800C:p.E267A;	0.995733012864212	0.954
18	55274678	C	A	18	57607446	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon8:c.G799T:p.E267X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000423481:exon6:c.G52T:p.E18X;ENSG00000134440:ENST00000256854:exon8:c.G799T:p.E267X;	0.981048190380382	0.884
18	55274678	C	G	18	57607446	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.G799C:p.E267Q;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon6:c.G52C:p.E18Q;ENSG00000134440:ENST00000586807:exon6:c.G390C:p.M130I;ENSG00000134440:ENST00000256854:exon8:c.G799C:p.E267Q;	0.964160354229872	0.758
18	55274678	C	T	18	57607446	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.G799A:p.E267K;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon6:c.G52A:p.E18K;ENSG00000134440:ENST00000586807:exon6:c.G390A:p.M130I;ENSG00000134440:ENST00000256854:exon8:c.G799A:p.E267K;	0.953253427837054	0.772
18	55274896	G	A	18	57607664	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.C581T:p.A194V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon7:c.C482T:p.A161V;ENSG00000134440:ENST00000587675:exon7:c.C377T:p.A126V;ENSG00000134440:ENST00000591599:exon7:c.C491T:p.A164V;ENSG00000134440:ENST00000256854:exon8:c.C581T:p.A194V;	0.989367336651912	0.882
18	55274896	G	C	18	57607664	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.C581G:p.A194G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon7:c.C482G:p.A161G;ENSG00000134440:ENST00000587675:exon7:c.C377G:p.A126G;ENSG00000134440:ENST00000591599:exon7:c.C491G:p.A164G;ENSG00000134440:ENST00000256854:exon8:c.C581G:p.A194G;	0.986475172586073	0.892
18	55274896	G	T	18	57607664	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.C581A:p.A194D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon7:c.C482A:p.A161D;ENSG00000134440:ENST00000587675:exon7:c.C377A:p.A126D;ENSG00000134440:ENST00000591599:exon7:c.C491A:p.A164D;ENSG00000134440:ENST00000256854:exon8:c.C581A:p.A194D;	0.99241194455432	0.842
18	55274897	C	A	18	57607665	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.G580T:p.A194S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon7:c.G481T:p.A161S;ENSG00000134440:ENST00000540592:exon7:c.G509T:p.G170V;ENSG00000134440:ENST00000587675:exon7:c.G376T:p.A126S;ENSG00000134440:ENST00000591599:exon7:c.G490T:p.A164S;ENSG00000134440:ENST00000256854:exon8:c.G580T:p.A194S;	0.999892981232459	0.972
18	55274897	C	G	18	57607665	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.G580C:p.A194P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon7:c.G481C:p.A161P;ENSG00000134440:ENST00000540592:exon7:c.G509C:p.G170A;ENSG00000134440:ENST00000587675:exon7:c.G376C:p.A126P;ENSG00000134440:ENST00000591599:exon7:c.G490C:p.A164P;ENSG00000134440:ENST00000256854:exon8:c.G580C:p.A194P;	0.999820171689225	0.946
18	55274897	C	T	18	57607665	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon8:c.G580A:p.A194T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon7:c.G481A:p.A161T;ENSG00000134440:ENST00000540592:exon7:c.G509A:p.G170D;ENSG00000134440:ENST00000587675:exon7:c.G376A:p.A126T;ENSG00000134440:ENST00000591599:exon7:c.G490A:p.A164T;ENSG00000134440:ENST00000256854:exon8:c.G580A:p.A194T;	0.999305212689697	0.916
18	55274898	C	A	18	57607666	y	y	splicing	NARS(NM_004539:exon9:c.580-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.580-1G>T;ENST00000540592:exon8:c.509-1G>T;ENST00000591599:exon8:c.490-1G>T;ENST00000587675:exon8:c.376-1G>T;ENST00000588661:exon8:c.481-1G>T)	.	.	0.999990108333982	0.906
18	55274898	C	G	18	57607666	y	y	splicing	NARS(NM_004539:exon9:c.580-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.580-1G>C;ENST00000540592:exon8:c.509-1G>C;ENST00000591599:exon8:c.490-1G>C;ENST00000587675:exon8:c.376-1G>C;ENST00000588661:exon8:c.481-1G>C)	.	.	0.999990108333982	0.906
18	55274898	C	T	18	57607666	y	y	splicing	NARS(NM_004539:exon9:c.580-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.580-1G>A;ENST00000540592:exon8:c.509-1G>A;ENST00000591599:exon8:c.490-1G>A;ENST00000587675:exon8:c.376-1G>A;ENST00000588661:exon8:c.481-1G>A)	.	.	0.999990108333982	0.906
18	55274899	T	A	18	57607667	y	y	splicing	NARS(NM_004539:exon9:c.580-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.580-2A>T;ENST00000540592:exon8:c.509-2A>T;ENST00000591599:exon8:c.490-2A>T;ENST00000587675:exon8:c.376-2A>T;ENST00000588661:exon8:c.481-2A>T)	.	.	0.999960835401076	0.902
18	55274899	T	C	18	57607667	y	y	splicing	NARS(NM_004539:exon9:c.580-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.580-2A>G;ENST00000540592:exon8:c.509-2A>G;ENST00000591599:exon8:c.490-2A>G;ENST00000587675:exon8:c.376-2A>G;ENST00000588661:exon8:c.481-2A>G)	.	.	0.999923261936389	0.894
18	55274899	T	G	18	57607667	y	y	splicing	NARS(NM_004539:exon9:c.580-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon9:c.580-2A>C;ENST00000540592:exon8:c.509-2A>C;ENST00000591599:exon8:c.490-2A>C;ENST00000587675:exon8:c.376-2A>C;ENST00000588661:exon8:c.481-2A>C)	.	.	0.999923261936389	0.894
18	55274900	G	A	18	57607668	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.60560249441033E-4	0.122
18	55274900	G	C	18	57607668	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.984213247333575	0.706
18	55274900	G	T	18	57607668	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.886505834568522	0.644
18	55274901	C	A	18	57607669	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.40312723914886E-5	0.01
18	55274901	C	G	18	57607669	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.91174207730639E-4	0.032
18	55274901	C	T	18	57607669	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.78077645594973E-4	0.02
18	55274902	A	C	18	57607670	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999858395143196	0.946
18	55274902	A	G	18	57607670	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.63035153617599E-4	0.062
18	55274902	A	T	18	57607670	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999912212004858	0.946
18	55274903	T	A	18	57607671	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.86663311747619E-5	0.0
18	55274903	T	C	18	57607671	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.982471045581631	0.964
18	55274903	T	G	18	57607671	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.86663311747619E-5	0.0
18	55274904	T	A	18	57607672	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.25828208285831E-5	0.01
18	55274904	T	C	18	57607672	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999473280150195	0.992
18	55274904	T	G	18	57607672	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.92210177441592E-5	0.006
18	55274905	T	A	18	57607673	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.01777517866629E-4	0.014
18	55274905	T	C	18	57607673	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999664591979722	0.962
18	55274905	T	G	18	57607673	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.55382901075306E-5	0.006
18	55274906	T	A	18	57607674	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.9311609729639E-5	0.02
18	55274906	T	C	18	57607674	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999494334733273	0.984
18	55274906	T	G	18	57607674	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.0472941851512E-5	0.008
18	55274907	T	A	18	57607675	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.97111457463805E-5	0.03
18	55274907	T	C	18	57607675	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.991946483349686	0.924
18	55274907	T	G	18	57607675	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.07880766263163E-5	0.01
18	55274908	T	A	18	57607676	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.49811543647207E-5	0.036
18	55274908	T	C	18	57607676	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.02661668380713E-5	0.036
18	55274908	T	G	18	57607676	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.49811543647207E-5	0.028
18	55274909	A	C	18	57607677	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00394265398504099	0.194
18	55274909	A	G	18	57607677	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.09210817587554E-4	0.06
18	55274909	A	T	18	57607677	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0198891297369663	0.31
18	55276581	C	A	18	57609349	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.3427982531725E-5	0.0
18	55276581	C	G	18	57609349	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.08933069844671E-5	0.0
18	55276581	C	T	18	57609349	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.3427982531725E-5	0.0
18	55276582	C	A	18	57609350	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.27475945581615E-4	0.0
18	55276582	C	G	18	57609350	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.34855971581928E-5	0.02
18	55276582	C	T	18	57609350	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.66579566323271E-5	0.0
18	55276583	A	C	18	57609351	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.146781833511722	0.298
18	55276583	A	G	18	57609351	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.609761040882087	0.402
18	55276583	A	T	18	57609351	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.836360660102702	0.546
18	55276584	C	A	18	57609352	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998915609002676	0.894
18	55276584	C	G	18	57609352	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.996472877436454	0.832
18	55276584	C	T	18	57609352	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998882376683203	0.96
18	55276585	T	A	18	57609353	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.995469578388055	0.846
18	55276585	T	C	18	57609353	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.994150854753747	0.74
18	55276585	T	G	18	57609353	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.984308919873774	0.704
18	55276586	C	A	18	57609354	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.101569685627641	0.448
18	55276586	C	G	18	57609354	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.152823688381446	0.458
18	55276586	C	T	18	57609354	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.39303315201062E-5	0.008
18	55276587	A	C	18	57609355	y	y	splicing	NARS(NM_004539:exon8:c.579+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.579+2T>G;ENST00000540592:exon7:c.508+2T>G;ENST00000591599:exon7:c.489+2T>G;ENST00000587675:exon7:c.375+2T>G;ENST00000588661:exon7:c.480+2T>G)	.	.	0.999988247793601	0.928
18	55276587	A	G	18	57609355	y	y	splicing	NARS(NM_004539:exon8:c.579+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.579+2T>C;ENST00000540592:exon7:c.508+2T>C;ENST00000591599:exon7:c.489+2T>C;ENST00000587675:exon7:c.375+2T>C;ENST00000588661:exon7:c.480+2T>C)	.	.	0.99991520749976	0.862
18	55276587	A	T	18	57609355	y	y	splicing	NARS(NM_004539:exon8:c.579+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.579+2T>A;ENST00000540592:exon7:c.508+2T>A;ENST00000591599:exon7:c.489+2T>A;ENST00000587675:exon7:c.375+2T>A;ENST00000588661:exon7:c.480+2T>A)	.	.	0.999988247793601	0.928
18	55276588	C	A	18	57609356	y	y	splicing	NARS(NM_004539:exon8:c.579+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.579+1G>T;ENST00000540592:exon7:c.508+1G>T;ENST00000591599:exon7:c.489+1G>T;ENST00000587675:exon7:c.375+1G>T;ENST00000588661:exon7:c.480+1G>T)	.	.	0.999990361384395	0.938
18	55276588	C	G	18	57609356	y	y	splicing	NARS(NM_004539:exon8:c.579+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.579+1G>C;ENST00000540592:exon7:c.508+1G>C;ENST00000591599:exon7:c.489+1G>C;ENST00000587675:exon7:c.375+1G>C;ENST00000588661:exon7:c.480+1G>C)	.	.	0.999990361384395	0.938
18	55276588	C	T	18	57609356	y	y	splicing	NARS(NM_004539:exon8:c.579+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.579+1G>A;ENST00000540592:exon7:c.508+1G>A;ENST00000591599:exon7:c.489+1G>A;ENST00000587675:exon7:c.375+1G>A;ENST00000588661:exon7:c.480+1G>A)	.	.	0.999990361384395	0.938
18	55276589	C	A	18	57609357	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.G579T:p.Q193H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.G480T:p.Q160H;ENSG00000134440:ENST00000540592:exon6:c.G508T:p.G170C;ENSG00000134440:ENST00000587675:exon6:c.G375T:p.Q125H;ENSG00000134440:ENST00000591599:exon6:c.G489T:p.Q163H;ENSG00000134440:ENST00000256854:exon7:c.G579T:p.Q193H;	0.999516758532231	0.896
18	55276589	C	G	18	57609357	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.G579C:p.Q193H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.G480C:p.Q160H;ENSG00000134440:ENST00000540592:exon6:c.G508C:p.G170R;ENSG00000134440:ENST00000587675:exon6:c.G375C:p.Q125H;ENSG00000134440:ENST00000591599:exon6:c.G489C:p.Q163H;ENSG00000134440:ENST00000256854:exon7:c.G579C:p.Q193H;	0.99980992179193	0.958
18	55276589	C	T	18	57609357	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon7:c.G579A:p.Q193Q;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000540592:exon6:c.G508A:p.G170S;	0.999920808053868	0.982
18	55276590	T	A	18	57609358	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.A578T:p.Q193L;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.A479T:p.Q160L;ENSG00000134440:ENST00000587675:exon6:c.A374T:p.Q125L;ENSG00000134440:ENST00000591599:exon6:c.A488T:p.Q163L;ENSG00000134440:ENST00000256854:exon7:c.A578T:p.Q193L;	0.990324018237546	0.79
18	55276590	T	C	18	57609358	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.A578G:p.Q193R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.A479G:p.Q160R;ENSG00000134440:ENST00000587675:exon6:c.A374G:p.Q125R;ENSG00000134440:ENST00000591599:exon6:c.A488G:p.Q163R;ENSG00000134440:ENST00000256854:exon7:c.A578G:p.Q193R;	0.970846203475375	0.938
18	55276590	T	G	18	57609358	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.A578C:p.Q193P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.A479C:p.Q160P;ENSG00000134440:ENST00000587675:exon6:c.A374C:p.Q125P;ENSG00000134440:ENST00000591599:exon6:c.A488C:p.Q163P;ENSG00000134440:ENST00000256854:exon7:c.A578C:p.Q193P;	0.991851451151631	0.802
18	55276591	G	A	18	57609359	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon7:c.C577T:p.Q193X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000588661:exon6:c.C478T:p.Q160X;ENSG00000134440:ENST00000587675:exon6:c.C373T:p.Q125X;ENSG00000134440:ENST00000591599:exon6:c.C487T:p.Q163X;ENSG00000134440:ENST00000256854:exon7:c.C577T:p.Q193X;	0.998012884132283	0.812
18	55276591	G	C	18	57609359	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.C577G:p.Q193E;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.C478G:p.Q160E;ENSG00000134440:ENST00000540592:exon6:c.C506G:p.A169G;ENSG00000134440:ENST00000587675:exon6:c.C373G:p.Q125E;ENSG00000134440:ENST00000591599:exon6:c.C487G:p.Q163E;ENSG00000134440:ENST00000256854:exon7:c.C577G:p.Q193E;	0.0234092411273998	0.13
18	55276591	G	T	18	57609359	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.C577A:p.Q193K;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.C478A:p.Q160K;ENSG00000134440:ENST00000540592:exon6:c.C506A:p.A169E;ENSG00000134440:ENST00000587675:exon6:c.C373A:p.Q125K;ENSG00000134440:ENST00000591599:exon6:c.C487A:p.Q163K;ENSG00000134440:ENST00000256854:exon7:c.C577A:p.Q193K;	0.0193724129695909	0.16
18	55276674	C	A	18	57609442	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.G494T:p.C165F;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.G395T:p.C132F;ENSG00000134440:ENST00000587675:exon6:c.G290T:p.C97F;ENSG00000134440:ENST00000591599:exon6:c.G404T:p.C135F;ENSG00000134440:ENST00000256854:exon7:c.G494T:p.C165F;	0.981776253234323	0.818
18	55276674	C	G	18	57609442	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.G494C:p.C165S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.G395C:p.C132S;ENSG00000134440:ENST00000587675:exon6:c.G290C:p.C97S;ENSG00000134440:ENST00000591599:exon6:c.G404C:p.C135S;ENSG00000134440:ENST00000256854:exon7:c.G494C:p.C165S;	0.980049620450646	0.782
18	55276674	C	T	18	57609442	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.G494A:p.C165Y;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.G395A:p.C132Y;ENSG00000134440:ENST00000587675:exon6:c.G290A:p.C97Y;ENSG00000134440:ENST00000591599:exon6:c.G404A:p.C135Y;ENSG00000134440:ENST00000256854:exon7:c.G494A:p.C165Y;	0.989209056259349	0.722
18	55276675	A	C	18	57609443	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.T493G:p.C165G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.T394G:p.C132G;ENSG00000134440:ENST00000540592:exon6:c.T422G:p.V141G;ENSG00000134440:ENST00000587675:exon6:c.T289G:p.C97G;ENSG00000134440:ENST00000591599:exon6:c.T403G:p.C135G;ENSG00000134440:ENST00000587194:exon6:c.T422G:p.V141G;ENSG00000134440:ENST00000256854:exon7:c.T493G:p.C165G;	0.798959741492545	0.552
18	55276675	A	G	18	57609443	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.T493C:p.C165R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.T394C:p.C132R;ENSG00000134440:ENST00000540592:exon6:c.T422C:p.V141A;ENSG00000134440:ENST00000587675:exon6:c.T289C:p.C97R;ENSG00000134440:ENST00000591599:exon6:c.T403C:p.C135R;ENSG00000134440:ENST00000587194:exon6:c.T422C:p.V141A;ENSG00000134440:ENST00000256854:exon7:c.T493C:p.C165R;	0.909124701184608	0.606
18	55276675	A	T	18	57609443	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon7:c.T493A:p.C165S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon6:c.T394A:p.C132S;ENSG00000134440:ENST00000540592:exon6:c.T422A:p.V141E;ENSG00000134440:ENST00000587675:exon6:c.T289A:p.C97S;ENSG00000134440:ENST00000591599:exon6:c.T403A:p.C135S;ENSG00000134440:ENST00000587194:exon6:c.T422A:p.V141E;ENSG00000134440:ENST00000256854:exon7:c.T493A:p.C165S;	0.736403848269153	0.668
18	55276676	C	A	18	57609444	y	y	splicing	NARS(NM_004539:exon8:c.493-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.493-1G>T;ENST00000540592:exon7:c.422-1G>T;ENST00000591599:exon7:c.403-1G>T;ENST00000587675:exon7:c.289-1G>T;ENST00000588661:exon7:c.394-1G>T;ENST00000587194:exon7:c.422-1G>T)	.	.	0.999976137096505	0.934
18	55276676	C	G	18	57609444	y	y	splicing	NARS(NM_004539:exon8:c.493-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.493-1G>C;ENST00000540592:exon7:c.422-1G>C;ENST00000591599:exon7:c.403-1G>C;ENST00000587675:exon7:c.289-1G>C;ENST00000588661:exon7:c.394-1G>C;ENST00000587194:exon7:c.422-1G>C)	.	.	0.999976137096505	0.928
18	55276676	C	T	18	57609444	y	y	splicing	NARS(NM_004539:exon8:c.493-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.493-1G>A;ENST00000540592:exon7:c.422-1G>A;ENST00000591599:exon7:c.403-1G>A;ENST00000587675:exon7:c.289-1G>A;ENST00000588661:exon7:c.394-1G>A;ENST00000587194:exon7:c.422-1G>A)	.	.	0.999976137096505	0.932
18	55276677	T	A	18	57609445	y	y	splicing	NARS(NM_004539:exon8:c.493-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.493-2A>T;ENST00000540592:exon7:c.422-2A>T;ENST00000591599:exon7:c.403-2A>T;ENST00000587675:exon7:c.289-2A>T;ENST00000588661:exon7:c.394-2A>T;ENST00000587194:exon7:c.422-2A>T)	.	.	0.999978952611685	0.924
18	55276677	T	C	18	57609445	y	y	splicing	NARS(NM_004539:exon8:c.493-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.493-2A>G;ENST00000540592:exon7:c.422-2A>G;ENST00000591599:exon7:c.403-2A>G;ENST00000587675:exon7:c.289-2A>G;ENST00000588661:exon7:c.394-2A>G;ENST00000587194:exon7:c.422-2A>G)	.	.	0.99994568797423	0.926
18	55276677	T	G	18	57609445	y	y	splicing	NARS(NM_004539:exon8:c.493-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon8:c.493-2A>C;ENST00000540592:exon7:c.422-2A>C;ENST00000591599:exon7:c.403-2A>C;ENST00000587675:exon7:c.289-2A>C;ENST00000588661:exon7:c.394-2A>C;ENST00000587194:exon7:c.422-2A>C)	.	.	0.99994568797423	0.926
18	55276678	A	C	18	57609446	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99384014000077	0.634
18	55276678	A	G	18	57609446	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.17726747820906E-5	0.012
18	55276678	A	T	18	57609446	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0193657179912855	0.33
18	55276679	T	A	18	57609447	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.48303951291892E-4	0.032
18	55276679	T	C	18	57609447	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.32040587504371E-4	0.01
18	55276679	T	G	18	57609447	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.15788688367104E-5	0.002
18	55276680	A	C	18	57609448	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.915502364902225	0.546
18	55276680	A	G	18	57609448	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.05546161642778E-4	0.09
18	55276680	A	T	18	57609448	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.216805732246502	0.51
18	55276681	A	C	18	57609449	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.834499827768394	0.498
18	55276681	A	G	18	57609449	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.42783988400138E-4	0.002
18	55276681	A	T	18	57609449	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.706571353008952	0.46
18	55276682	A	C	18	57609450	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0724834967224422	0.1
18	55276682	A	G	18	57609450	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.81138173891107E-5	0.004
18	55276682	A	T	18	57609450	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.459184132771428	0.286
18	55276683	A	C	18	57609451	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0123738382577155	0.164
18	55276683	A	G	18	57609451	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.10427610344121E-5	0.028
18	55276683	A	T	18	57609451	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.221096101072754	0.216
18	55276684	A	C	18	57609452	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0069815608386782	0.132
18	55276684	A	G	18	57609452	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.10519374438226E-5	0.0
18	55276684	A	T	18	57609452	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.196652943184089	0.422
18	55276685	G	A	18	57609453	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.35438652675054E-5	0.008
18	55276685	G	C	18	57609453	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.38806544969143E-4	0.02
18	55276685	G	T	18	57609453	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0033012425625743	0.098
18	55276686	G	A	18	57609454	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.53909006385938E-5	0.01
18	55276686	G	C	18	57609454	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999614620417169	0.988
18	55276686	G	T	18	57609454	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.40563313422695E-4	0.004
18	55276687	T	A	18	57609455	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.76798161732566E-4	0.076
18	55276687	T	C	18	57609455	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.38459223301963E-4	0.014
18	55276687	T	G	18	57609455	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.35191814607366E-4	0.002
18	55278861	A	C	18	57611629	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.77987366268388E-4	0.006
18	55278861	A	G	18	57611629	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.51792521735738E-4	0.006
18	55278861	A	T	18	57611629	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00126286912718584	0.014
18	55278862	T	A	18	57611630	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.77188407394151E-4	0.038
18	55278862	T	C	18	57611630	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.00106853443203E-4	0.01
18	55278862	T	G	18	57611630	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.77475902978406E-4	0.022
18	55278863	A	C	18	57611631	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00823136014909769	0.294
18	55278863	A	G	18	57611631	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.884871249340463	0.582
18	55278863	A	T	18	57611631	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.73548273840597	0.45
18	55278864	T	A	18	57611632	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.32274414356657E-5	0.008
18	55278864	T	C	18	57611632	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.89965735536445E-5	0.024
18	55278864	T	G	18	57611632	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.69637937640527E-4	0.046
18	55278865	T	A	18	57611633	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.989464640903352	0.814
18	55278865	T	C	18	57611633	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999200383723746	0.812
18	55278865	T	G	18	57611633	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.975807453054115	0.776
18	55278866	T	A	18	57611634	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999721649870433	0.896
18	55278866	T	C	18	57611634	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.997153089974775	0.78
18	55278866	T	G	18	57611634	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999762362228795	0.872
18	55278867	A	C	18	57611635	y	y	splicing	NARS(NM_004539:exon7:c.492+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.492+2T>G;ENST00000591599:exon6:c.402+2T>G;ENST00000587675:exon6:c.288+2T>G;ENST00000588661:exon6:c.393+2T>G)	.	.	0.999966514958823	0.958
18	55278867	A	G	18	57611635	y	y	splicing	NARS(NM_004539:exon7:c.492+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.492+2T>C;ENST00000591599:exon6:c.402+2T>C;ENST00000587675:exon6:c.288+2T>C;ENST00000588661:exon6:c.393+2T>C)	.	.	0.997912666803128	0.786
18	55278867	A	T	18	57611635	y	y	splicing	NARS(NM_004539:exon7:c.492+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.492+2T>A;ENST00000591599:exon6:c.402+2T>A;ENST00000587675:exon6:c.288+2T>A;ENST00000588661:exon6:c.393+2T>A)	.	.	0.999966203349492	0.958
18	55278868	C	A	18	57611636	y	y	splicing	NARS(NM_004539:exon7:c.492+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.492+1G>T;ENST00000591599:exon6:c.402+1G>T;ENST00000587675:exon6:c.288+1G>T;ENST00000588661:exon6:c.393+1G>T)	.	.	0.99992564245874	0.958
18	55278868	C	G	18	57611636	y	y	splicing	NARS(NM_004539:exon7:c.492+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.492+1G>C;ENST00000591599:exon6:c.402+1G>C;ENST00000587675:exon6:c.288+1G>C;ENST00000588661:exon6:c.393+1G>C)	.	.	0.9999230488624	0.958
18	55278868	C	T	18	57611636	y	y	splicing	NARS(NM_004539:exon7:c.492+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.492+1G>A;ENST00000591599:exon6:c.402+1G>A;ENST00000587675:exon6:c.288+1G>A;ENST00000588661:exon6:c.393+1G>A)	.	.	0.99992564245874	0.96
18	55278869	C	A	18	57611637	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.G492T:p.L164F;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.G393T:p.L131F;ENSG00000134440:ENST00000587675:exon5:c.G288T:p.L96F;ENSG00000134440:ENST00000591599:exon5:c.G402T:p.L134F;ENSG00000134440:ENST00000256854:exon6:c.G492T:p.L164F;	0.99998873245523	0.998
18	55278869	C	G	18	57611637	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.G492C:p.L164F;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.G393C:p.L131F;ENSG00000134440:ENST00000587675:exon5:c.G288C:p.L96F;ENSG00000134440:ENST00000591599:exon5:c.G402C:p.L134F;ENSG00000134440:ENST00000256854:exon6:c.G492C:p.L164F;	0.999995970766287	1.0
18	55278869	C	T	18	57611637	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon6:c.G492A:p.L164L;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.G393A:p.L131L;ENSG00000134440:ENST00000587675:exon5:c.G288A:p.L96L;ENSG00000134440:ENST00000591599:exon5:c.G402A:p.L134L;ENSG00000134440:ENST00000256854:exon6:c.G492A:p.L164L;	0.999986497867588	0.996
18	55278870	A	C	18	57611638	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.T491G:p.L164W;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.T392G:p.L131W;ENSG00000134440:ENST00000587675:exon5:c.T287G:p.L96W;ENSG00000134440:ENST00000591599:exon5:c.T401G:p.L134W;ENSG00000134440:ENST00000256854:exon6:c.T491G:p.L164W;	0.695590663610682	0.618
18	55278870	A	G	18	57611638	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.T491C:p.L164S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.T392C:p.L131S;ENSG00000134440:ENST00000587675:exon5:c.T287C:p.L96S;ENSG00000134440:ENST00000591599:exon5:c.T401C:p.L134S;ENSG00000134440:ENST00000256854:exon6:c.T491C:p.L164S;	0.948174050832156	0.784
18	55278870	A	T	18	57611638	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon6:c.T491A:p.L164X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000588661:exon5:c.T392A:p.L131X;ENSG00000134440:ENST00000587675:exon5:c.T287A:p.L96X;ENSG00000134440:ENST00000591599:exon5:c.T401A:p.L134X;ENSG00000134440:ENST00000256854:exon6:c.T491A:p.L164X;	0.696902593651368	0.628
18	55278871	A	C	18	57611639	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.T490G:p.L164V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.T391G:p.L131V;ENSG00000134440:ENST00000587675:exon5:c.T286G:p.L96V;ENSG00000134440:ENST00000591599:exon5:c.T400G:p.L134V;ENSG00000134440:ENST00000256854:exon6:c.T490G:p.L164V;	2.08063131096172E-4	0.018
18	55278871	A	G	18	57611639	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon6:c.T490C:p.L164L;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.T391C:p.L131L;ENSG00000134440:ENST00000587675:exon5:c.T286C:p.L96L;ENSG00000134440:ENST00000591599:exon5:c.T400C:p.L134L;ENSG00000134440:ENST00000256854:exon6:c.T490C:p.L164L;	1.8986305130125E-4	0.026
18	55278871	A	T	18	57611639	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.T490A:p.L164M;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.T391A:p.L131M;ENSG00000134440:ENST00000587675:exon5:c.T286A:p.L96M;ENSG00000134440:ENST00000591599:exon5:c.T400A:p.L134M;ENSG00000134440:ENST00000256854:exon6:c.T490A:p.L164M;	1.61638738664892E-4	0.002
18	55278938	T	A	18	57611706	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon6:c.A423T:p.G141G;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.A324T:p.G108G;ENSG00000134440:ENST00000587675:exon5:c.A219T:p.G73G;ENSG00000134440:ENST00000591599:exon5:c.A333T:p.G111G;ENSG00000134440:ENST00000256854:exon6:c.A423T:p.G141G;	1.91643127776548E-5	0.0
18	55278938	T	C	18	57611706	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon6:c.A423G:p.G141G;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.A324G:p.G108G;ENSG00000134440:ENST00000587675:exon5:c.A219G:p.G73G;ENSG00000134440:ENST00000591599:exon5:c.A333G:p.G111G;ENSG00000134440:ENST00000256854:exon6:c.A423G:p.G141G;	2.45943368894393E-4	0.02
18	55278938	T	G	18	57611706	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon6:c.A423C:p.G141G;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.A324C:p.G108G;ENSG00000134440:ENST00000587675:exon5:c.A219C:p.G73G;ENSG00000134440:ENST00000591599:exon5:c.A333C:p.G111G;ENSG00000134440:ENST00000256854:exon6:c.A423C:p.G141G;	6.64355376305755E-4	0.006
18	55278939	C	A	18	57611707	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.G422T:p.G141V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.G323T:p.G108V;ENSG00000134440:ENST00000587675:exon5:c.G218T:p.G73V;ENSG00000134440:ENST00000591599:exon5:c.G332T:p.G111V;ENSG00000134440:ENST00000256854:exon6:c.G422T:p.G141V;	0.999840466340273	0.99
18	55278939	C	G	18	57611707	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.G422C:p.G141A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.G323C:p.G108A;ENSG00000134440:ENST00000587675:exon5:c.G218C:p.G73A;ENSG00000134440:ENST00000591599:exon5:c.G332C:p.G111A;ENSG00000134440:ENST00000256854:exon6:c.G422C:p.G141A;	0.999457827490562	0.976
18	55278939	C	T	18	57611707	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon6:c.G422A:p.G141E;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon5:c.G323A:p.G108E;ENSG00000134440:ENST00000587675:exon5:c.G218A:p.G73E;ENSG00000134440:ENST00000591599:exon5:c.G332A:p.G111E;ENSG00000134440:ENST00000256854:exon6:c.G422A:p.G141E;	0.999228587213566	0.94
18	55278940	C	A	18	57611708	y	y	splicing	NARS(NM_004539:exon7:c.422-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.422-1G>T;ENST00000591599:exon6:c.332-1G>T;ENST00000587675:exon6:c.218-1G>T;ENST00000588661:exon6:c.323-1G>T)	.	.	0.999986675681007	0.932
18	55278940	C	G	18	57611708	y	y	splicing	NARS(NM_004539:exon7:c.422-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.422-1G>C;ENST00000591599:exon6:c.332-1G>C;ENST00000587675:exon6:c.218-1G>C;ENST00000588661:exon6:c.323-1G>C)	.	.	0.999986675681007	0.932
18	55278940	C	T	18	57611708	y	y	splicing	NARS(NM_004539:exon7:c.422-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.422-1G>A;ENST00000591599:exon6:c.332-1G>A;ENST00000587675:exon6:c.218-1G>A;ENST00000588661:exon6:c.323-1G>A)	.	.	0.999986675681007	0.932
18	55278941	T	A	18	57611709	y	y	splicing	NARS(NM_004539:exon7:c.422-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.422-2A>T;ENST00000591599:exon6:c.332-2A>T;ENST00000587675:exon6:c.218-2A>T;ENST00000588661:exon6:c.323-2A>T)	.	.	0.999990155693597	0.926
18	55278941	T	C	18	57611709	y	y	splicing	NARS(NM_004539:exon7:c.422-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.422-2A>G;ENST00000591599:exon6:c.332-2A>G;ENST00000587675:exon6:c.218-2A>G;ENST00000588661:exon6:c.323-2A>G)	.	.	0.999990155693597	0.926
18	55278941	T	G	18	57611709	y	y	splicing	NARS(NM_004539:exon7:c.422-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon7:c.422-2A>C;ENST00000591599:exon6:c.332-2A>C;ENST00000587675:exon6:c.218-2A>C;ENST00000588661:exon6:c.323-2A>C)	.	.	0.999990155693597	0.926
18	55278942	A	C	18	57611710	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.806798939615294	0.566
18	55278942	A	G	18	57611710	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.25686766960382E-4	0.036
18	55278942	A	T	18	57611710	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.78788938578606E-4	0.094
18	55278943	A	C	18	57611711	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.22888257581863E-4	0.044
18	55278943	A	G	18	57611711	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.65653358507784E-4	0.002
18	55278943	A	T	18	57611711	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.42897825916323E-4	0.036
18	55278944	A	C	18	57611712	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.254341475790684	0.45
18	55278944	A	G	18	57611712	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00424941351125115	0.064
18	55278944	A	T	18	57611712	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0332186043373806	0.354
18	55278945	A	C	18	57611713	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0289763373733639	0.144
18	55278945	A	G	18	57611713	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.12225750566586E-4	0.018
18	55278945	A	T	18	57611713	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0332531976230685	0.106
18	55278946	A	C	18	57611714	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00289339958185576	0.07
18	55278946	A	G	18	57611714	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.62904847017103E-4	0.002
18	55278946	A	T	18	57611714	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00334089063271201	0.096
18	55278947	A	C	18	57611715	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999705418487552	0.978
18	55278947	A	G	18	57611715	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.39138649371521E-4	0.012
18	55278947	A	T	18	57611715	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00452188432012199	0.198
18	55278948	T	A	18	57611716	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.34980095740112E-5	0.226
18	55278948	T	C	18	57611716	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.79837613441547E-5	0.118
18	55278948	T	G	18	57611716	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.15420220700017E-5	0.204
18	55278949	G	A	18	57611717	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0172933421762998	0.358
18	55278949	G	C	18	57611717	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0206693306468679	0.17
18	55278949	G	T	18	57611717	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0229514053086827	0.176
18	55278950	A	C	18	57611718	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.650653510132E-4	0.326
18	55278950	A	G	18	57611718	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.34387710167185E-4	0.154
18	55278950	A	T	18	57611718	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00120476554546929	0.378
18	55278951	G	A	18	57611719	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.65953921674446E-5	0.166
18	55278951	G	C	18	57611719	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.54454034200856E-5	0.08
18	55278951	G	T	18	57611719	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.58444244053146E-5	0.086
18	55280826	C	A	18	57613594	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.10368493308568E-5	0.0
18	55280826	C	G	18	57613594	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.10368493308568E-5	0.0
18	55280826	C	T	18	57613594	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.10368493308568E-5	0.0
18	55280827	C	A	18	57613595	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.20557863975117E-5	0.0
18	55280827	C	G	18	57613595	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.5428948660409E-5	0.0
18	55280827	C	T	18	57613595	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.62187431768379E-5	0.0
18	55280828	A	C	18	57613596	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.39626927656882E-4	0.034
18	55280828	A	G	18	57613596	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00112379442587298	0.046
18	55280828	A	T	18	57613596	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.5152043899545E-4	0.036
18	55280829	T	A	18	57613597	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.78811287630102E-5	0.004
18	55280829	T	C	18	57613597	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.68231023113306E-5	0.066
18	55280829	T	G	18	57613597	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.51311104985759E-4	0.06
18	55280830	T	A	18	57613598	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.537996529957827	0.458
18	55280830	T	C	18	57613598	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.467390111307375	0.434
18	55280830	T	G	18	57613598	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.801178536186555	0.484
18	55280831	T	A	18	57613599	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.952380850767	0.528
18	55280831	T	C	18	57613599	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0632371283559972	0.334
18	55280831	T	G	18	57613599	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.948388170509052	0.534
18	55280832	A	C	18	57613600	y	y	splicing	NARS(NM_004539:exon6:c.421+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.421+2T>G;ENST00000540592:exon6:c.421+2T>G;ENST00000591599:exon5:c.331+2T>G;ENST00000587675:exon5:c.217+2T>G;ENST00000588661:exon5:c.322+2T>G;ENST00000587194:exon6:c.421+2T>G)	.	.	0.99992617752697	0.928
18	55280832	A	G	18	57613600	y	y	splicing	NARS(NM_004539:exon6:c.421+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.421+2T>C;ENST00000540592:exon6:c.421+2T>C;ENST00000591599:exon5:c.331+2T>C;ENST00000587675:exon5:c.217+2T>C;ENST00000588661:exon5:c.322+2T>C;ENST00000587194:exon6:c.421+2T>C)	.	.	0.95549292345763	0.59
18	55280832	A	T	18	57613600	y	y	splicing	NARS(NM_004539:exon6:c.421+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.421+2T>A;ENST00000540592:exon6:c.421+2T>A;ENST00000591599:exon5:c.331+2T>A;ENST00000587675:exon5:c.217+2T>A;ENST00000588661:exon5:c.322+2T>A;ENST00000587194:exon6:c.421+2T>A)	.	.	0.99992617752697	0.93
18	55280833	C	A	18	57613601	y	y	splicing	NARS(NM_004539:exon6:c.421+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.421+1G>T;ENST00000540592:exon6:c.421+1G>T;ENST00000591599:exon5:c.331+1G>T;ENST00000587675:exon5:c.217+1G>T;ENST00000588661:exon5:c.322+1G>T;ENST00000587194:exon6:c.421+1G>T)	.	.	0.999974090184857	0.938
18	55280833	C	G	18	57613601	y	y	splicing	NARS(NM_004539:exon6:c.421+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.421+1G>C;ENST00000540592:exon6:c.421+1G>C;ENST00000591599:exon5:c.331+1G>C;ENST00000587675:exon5:c.217+1G>C;ENST00000588661:exon5:c.322+1G>C;ENST00000587194:exon6:c.421+1G>C)	.	.	0.999963884237991	0.932
18	55280833	C	T	18	57613601	y	y	splicing	NARS(NM_004539:exon6:c.421+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.421+1G>A;ENST00000540592:exon6:c.421+1G>A;ENST00000591599:exon5:c.331+1G>A;ENST00000587675:exon5:c.217+1G>A;ENST00000588661:exon5:c.322+1G>A;ENST00000587194:exon6:c.421+1G>A)	.	.	0.999974090184857	0.938
18	55280834	C	A	18	57613602	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon5:c.G421T:p.G141X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000588661:exon4:c.G322T:p.G108X;ENSG00000134440:ENST00000587675:exon4:c.G217T:p.G73X;ENSG00000134440:ENST00000591599:exon4:c.G331T:p.G111X;ENSG00000134440:ENST00000256854:exon5:c.G421T:p.G141X;	0.999942669485131	0.982
18	55280834	C	G	18	57613602	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.G421C:p.G141R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.G322C:p.G108R;ENSG00000134440:ENST00000540592:exon5:c.G421C:p.V141L;ENSG00000134440:ENST00000587675:exon4:c.G217C:p.G73R;ENSG00000134440:ENST00000591599:exon4:c.G331C:p.G111R;ENSG00000134440:ENST00000587194:exon5:c.G421C:p.V141L;ENSG00000134440:ENST00000256854:exon5:c.G421C:p.G141R;	0.999997830265963	0.998
18	55280834	C	T	18	57613602	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.G421A:p.G141R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.G322A:p.G108R;ENSG00000134440:ENST00000540592:exon5:c.G421A:p.V141M;ENSG00000134440:ENST00000587675:exon4:c.G217A:p.G73R;ENSG00000134440:ENST00000591599:exon4:c.G331A:p.G111R;ENSG00000134440:ENST00000587194:exon5:c.G421A:p.V141M;ENSG00000134440:ENST00000256854:exon5:c.G421A:p.G141R;	0.99988034279026	0.98
18	55280835	T	A	18	57613603	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.A420T:p.Q140H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.A321T:p.Q107H;ENSG00000134440:ENST00000540592:exon5:c.A420T:p.Q140H;ENSG00000134440:ENST00000587675:exon4:c.A216T:p.Q72H;ENSG00000134440:ENST00000591599:exon4:c.A330T:p.Q110H;ENSG00000134440:ENST00000587194:exon5:c.A420T:p.Q140H;ENSG00000134440:ENST00000256854:exon5:c.A420T:p.Q140H;	0.999174723993155	1.0
18	55280835	T	C	18	57613603	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon5:c.A420G:p.Q140Q;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.A321G:p.Q107Q;ENSG00000134440:ENST00000540592:exon5:c.A420G:p.Q140Q;ENSG00000134440:ENST00000587675:exon4:c.A216G:p.Q72Q;ENSG00000134440:ENST00000591599:exon4:c.A330G:p.Q110Q;ENSG00000134440:ENST00000587194:exon5:c.A420G:p.Q140Q;ENSG00000134440:ENST00000256854:exon5:c.A420G:p.Q140Q;	0.990613891066194	0.75
18	55280835	T	G	18	57613603	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.A420C:p.Q140H;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.A321C:p.Q107H;ENSG00000134440:ENST00000540592:exon5:c.A420C:p.Q140H;ENSG00000134440:ENST00000587675:exon4:c.A216C:p.Q72H;ENSG00000134440:ENST00000591599:exon4:c.A330C:p.Q110H;ENSG00000134440:ENST00000587194:exon5:c.A420C:p.Q140H;ENSG00000134440:ENST00000256854:exon5:c.A420C:p.Q140H;	0.999009300480647	0.92
18	55280836	T	A	18	57613604	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.A419T:p.Q140L;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.A320T:p.Q107L;ENSG00000134440:ENST00000540592:exon5:c.A419T:p.Q140L;ENSG00000134440:ENST00000587675:exon4:c.A215T:p.Q72L;ENSG00000134440:ENST00000591599:exon4:c.A329T:p.Q110L;ENSG00000134440:ENST00000587194:exon5:c.A419T:p.Q140L;ENSG00000134440:ENST00000256854:exon5:c.A419T:p.Q140L;	0.985166504595593	0.658
18	55280836	T	C	18	57613604	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.A419G:p.Q140R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.A320G:p.Q107R;ENSG00000134440:ENST00000540592:exon5:c.A419G:p.Q140R;ENSG00000134440:ENST00000587675:exon4:c.A215G:p.Q72R;ENSG00000134440:ENST00000591599:exon4:c.A329G:p.Q110R;ENSG00000134440:ENST00000587194:exon5:c.A419G:p.Q140R;ENSG00000134440:ENST00000256854:exon5:c.A419G:p.Q140R;	0.558617893174776	0.496
18	55280836	T	G	18	57613604	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.A419C:p.Q140P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.A320C:p.Q107P;ENSG00000134440:ENST00000540592:exon5:c.A419C:p.Q140P;ENSG00000134440:ENST00000587675:exon4:c.A215C:p.Q72P;ENSG00000134440:ENST00000591599:exon4:c.A329C:p.Q110P;ENSG00000134440:ENST00000587194:exon5:c.A419C:p.Q140P;ENSG00000134440:ENST00000256854:exon5:c.A419C:p.Q140P;	0.862718179469301	0.65
18	55280911	A	C	18	57613679	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.T344G:p.V115G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.T245G:p.V82G;ENSG00000134440:ENST00000423481:exon5:c.T6G:p.C2W;ENSG00000134440:ENST00000586807:exon5:c.T344G:p.V115G;ENSG00000134440:ENST00000540592:exon5:c.T344G:p.V115G;ENSG00000134440:ENST00000587675:exon4:c.T140G:p.V47G;ENSG00000134440:ENST00000591599:exon4:c.T254G:p.V85G;ENSG00000134440:ENST00000587194:exon5:c.T344G:p.V115G;ENSG00000134440:ENST00000256854:exon5:c.T344G:p.V115G;	0.858999781748788	0.448
18	55280911	A	G	18	57613679	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.T344C:p.V115A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.T245C:p.V82A;ENSG00000134440:ENST00000586807:exon5:c.T344C:p.V115A;ENSG00000134440:ENST00000540592:exon5:c.T344C:p.V115A;ENSG00000134440:ENST00000587675:exon4:c.T140C:p.V47A;ENSG00000134440:ENST00000591599:exon4:c.T254C:p.V85A;ENSG00000134440:ENST00000587194:exon5:c.T344C:p.V115A;ENSG00000134440:ENST00000256854:exon5:c.T344C:p.V115A;	0.636590883339757	0.378
18	55280911	A	T	18	57613679	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.T344A:p.V115E;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000423481:exon5:c.T6A:p.C2X;	0.913585106060152	0.594
18	55280912	C	A	18	57613680	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.G343T:p.V115L;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.G244T:p.V82L;ENSG00000134440:ENST00000423481:exon5:c.G5T:p.C2F;ENSG00000134440:ENST00000586807:exon5:c.G343T:p.V115L;ENSG00000134440:ENST00000540592:exon5:c.G343T:p.V115L;ENSG00000134440:ENST00000587675:exon4:c.G139T:p.V47L;ENSG00000134440:ENST00000591599:exon4:c.G253T:p.V85L;ENSG00000134440:ENST00000587194:exon5:c.G343T:p.V115L;ENSG00000134440:ENST00000256854:exon5:c.G343T:p.V115L;	0.991986048364441	0.888
18	55280912	C	G	18	57613680	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.G343C:p.V115L;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.G244C:p.V82L;ENSG00000134440:ENST00000423481:exon5:c.G5C:p.C2S;ENSG00000134440:ENST00000586807:exon5:c.G343C:p.V115L;ENSG00000134440:ENST00000540592:exon5:c.G343C:p.V115L;ENSG00000134440:ENST00000587675:exon4:c.G139C:p.V47L;ENSG00000134440:ENST00000591599:exon4:c.G253C:p.V85L;ENSG00000134440:ENST00000587194:exon5:c.G343C:p.V115L;ENSG00000134440:ENST00000256854:exon5:c.G343C:p.V115L;	0.977602325267813	0.854
18	55280912	C	T	18	57613680	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon5:c.G343A:p.V115M;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon4:c.G244A:p.V82M;ENSG00000134440:ENST00000423481:exon5:c.G5A:p.C2Y;ENSG00000134440:ENST00000586807:exon5:c.G343A:p.V115M;ENSG00000134440:ENST00000540592:exon5:c.G343A:p.V115M;ENSG00000134440:ENST00000587675:exon4:c.G139A:p.V47M;ENSG00000134440:ENST00000591599:exon4:c.G253A:p.V85M;ENSG00000134440:ENST00000587194:exon5:c.G343A:p.V115M;ENSG00000134440:ENST00000256854:exon5:c.G343A:p.V115M;	0.977137622405073	0.734
18	55280913	C	A	18	57613681	y	y	splicing	NARS(NM_004539:exon6:c.343-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.343-1G>T;ENST00000423481:exon6:c.5-1G>T;ENST00000586807:exon6:c.343-1G>T;ENST00000540592:exon6:c.343-1G>T;ENST00000591599:exon5:c.253-1G>T;ENST00000587675:exon5:c.139-1G>T;ENST00000588661:exon5:c.244-1G>T;ENST00000587194:exon6:c.343-1G>T;ENST00000590123:exon6:c.387-1G>T)	.	.	0.999969205341567	0.97
18	55280913	C	G	18	57613681	y	y	splicing	NARS(NM_004539:exon6:c.343-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.343-1G>C;ENST00000423481:exon6:c.5-1G>C;ENST00000586807:exon6:c.343-1G>C;ENST00000540592:exon6:c.343-1G>C;ENST00000591599:exon5:c.253-1G>C;ENST00000587675:exon5:c.139-1G>C;ENST00000588661:exon5:c.244-1G>C;ENST00000587194:exon6:c.343-1G>C;ENST00000590123:exon6:c.387-1G>C)	.	.	0.999969489273001	0.97
18	55280913	C	T	18	57613681	y	y	splicing	NARS(NM_004539:exon6:c.343-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.343-1G>A;ENST00000423481:exon6:c.5-1G>A;ENST00000586807:exon6:c.343-1G>A;ENST00000540592:exon6:c.343-1G>A;ENST00000591599:exon5:c.253-1G>A;ENST00000587675:exon5:c.139-1G>A;ENST00000588661:exon5:c.244-1G>A;ENST00000587194:exon6:c.343-1G>A;ENST00000590123:exon6:c.387-1G>A)	.	.	0.999969205341567	0.97
18	55280914	T	A	18	57613682	y	y	splicing	NARS(NM_004539:exon6:c.343-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.343-2A>T;ENST00000423481:exon6:c.5-2A>T;ENST00000586807:exon6:c.343-2A>T;ENST00000540592:exon6:c.343-2A>T;ENST00000591599:exon5:c.253-2A>T;ENST00000587675:exon5:c.139-2A>T;ENST00000588661:exon5:c.244-2A>T;ENST00000587194:exon6:c.343-2A>T;ENST00000590123:exon6:c.387-2A>T)	.	.	0.99994568797423	0.948
18	55280914	T	C	18	57613682	y	y	splicing	NARS(NM_004539:exon6:c.343-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.343-2A>G;ENST00000423481:exon6:c.5-2A>G;ENST00000586807:exon6:c.343-2A>G;ENST00000540592:exon6:c.343-2A>G;ENST00000591599:exon5:c.253-2A>G;ENST00000587675:exon5:c.139-2A>G;ENST00000588661:exon5:c.244-2A>G;ENST00000587194:exon6:c.343-2A>G;ENST00000590123:exon6:c.387-2A>G)	.	.	0.99994568797423	0.956
18	55280914	T	G	18	57613682	y	y	splicing	NARS(NM_004539:exon6:c.343-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon6:c.343-2A>C;ENST00000423481:exon6:c.5-2A>C;ENST00000586807:exon6:c.343-2A>C;ENST00000540592:exon6:c.343-2A>C;ENST00000591599:exon5:c.253-2A>C;ENST00000587675:exon5:c.139-2A>C;ENST00000588661:exon5:c.244-2A>C;ENST00000587194:exon6:c.343-2A>C;ENST00000590123:exon6:c.387-2A>C)	.	.	0.99994568797423	0.95
18	55280915	G	A	18	57613683	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00198406342449171	0.106
18	55280915	G	C	18	57613683	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999782322860188	0.754
18	55280915	G	T	18	57613683	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.957869887551472	0.734
18	55280916	T	A	18	57613684	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.42323461052228E-4	0.01
18	55280916	T	C	18	57613684	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.68231174580831E-4	0.14
18	55280916	T	G	18	57613684	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.51150600474678E-5	0.012
18	55280917	C	A	18	57613685	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.57520985774582E-5	0.004
18	55280917	C	G	18	57613685	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.73902283310605E-5	0.0
18	55280917	C	T	18	57613685	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.00094126289451E-4	0.002
18	55280918	A	C	18	57613686	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.181491865434003	0.428
18	55280918	A	G	18	57613686	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.8893305875705E-4	0.006
18	55280918	A	T	18	57613686	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999931455707144	0.974
18	55280919	A	C	18	57613687	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.591028498178061	0.414
18	55280919	A	G	18	57613687	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.92038201971761E-4	0.06
18	55280919	A	T	18	57613687	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.35779339909167	0.416
18	55280920	A	C	18	57613688	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999797415255705	0.992
18	55280920	A	G	18	57613688	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.70858121387756E-5	0.004
18	55280920	A	T	18	57613688	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0129020098583975	0.298
18	55280921	T	A	18	57613689	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.69901599181139E-5	0.01
18	55280921	T	C	18	57613689	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.950261498799828	0.958
18	55280921	T	G	18	57613689	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.12297992306712E-5	0.004
18	55280922	T	A	18	57613690	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.78778313796105E-5	0.006
18	55280922	T	C	18	57613690	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.75130897653928E-5	0.0
18	55280922	T	G	18	57613690	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.95048459408849E-5	0.0
18	55280923	G	A	18	57613691	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.00297851164118E-5	0.0
18	55280923	G	C	18	57613691	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.87477054159362E-4	0.026
18	55280923	G	T	18	57613691	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.48665755960194E-4	0.028
18	55280924	A	C	18	57613692	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0770455222378086	0.366
18	55280924	A	G	18	57613692	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00298259330421791	0.114
18	55280924	A	T	18	57613692	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.557253928399753	0.504
18	55282865	A	C	18	57615633	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.606264752885E-4	0.0
18	55282865	A	G	18	57615633	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.64400779785233E-4	0.0
18	55282865	A	T	18	57615633	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.65332719750715E-4	0.006
18	55282866	A	C	18	57615634	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.26501254653793E-5	0.0
18	55282866	A	G	18	57615634	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.26501254653793E-5	0.0
18	55282866	A	T	18	57615634	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.26501254653793E-5	0.01
18	55282867	A	C	18	57615635	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.950301830912496	0.73
18	55282867	A	G	18	57615635	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.988723785249263	0.862
18	55282867	A	T	18	57615635	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.989318682954814	0.69
18	55282868	C	A	18	57615636	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999967194349257	0.992
18	55282868	C	G	18	57615636	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999976464914375	0.982
18	55282868	C	T	18	57615636	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999985585784024	0.996
18	55282869	T	A	18	57615637	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.943146101865832	0.656
18	55282869	T	C	18	57615637	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999766410824646	0.816
18	55282869	T	G	18	57615637	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.991909668044124	0.682
18	55282870	T	A	18	57615638	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99982141479385	0.932
18	55282870	T	C	18	57615638	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0381727995611939	0.288
18	55282870	T	G	18	57615638	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999708437705188	0.924
18	55282871	A	C	18	57615639	y	y	splicing	NARS(NM_004539:exon5:c.342+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.342+2T>G;ENST00000423481:exon5:c.4+2T>G;ENST00000586807:exon5:c.342+2T>G;ENST00000540592:exon5:c.342+2T>G;ENST00000587675:exon4:c.138+2T>G;ENST00000588661:exon4:c.243+2T>G;ENST00000587194:exon5:c.342+2T>G;ENST00000590123:exon5:c.386+2T>G)	.	.	0.999976497614174	0.894
18	55282871	A	G	18	57615639	y	y	splicing	NARS(NM_004539:exon5:c.342+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.342+2T>C;ENST00000423481:exon5:c.4+2T>C;ENST00000586807:exon5:c.342+2T>C;ENST00000540592:exon5:c.342+2T>C;ENST00000587675:exon4:c.138+2T>C;ENST00000588661:exon4:c.243+2T>C;ENST00000587194:exon5:c.342+2T>C;ENST00000590123:exon5:c.386+2T>C)	.	.	0.952821830884809	0.672
18	55282871	A	T	18	57615639	y	y	splicing	NARS(NM_004539:exon5:c.342+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.342+2T>A;ENST00000423481:exon5:c.4+2T>A;ENST00000586807:exon5:c.342+2T>A;ENST00000540592:exon5:c.342+2T>A;ENST00000587675:exon4:c.138+2T>A;ENST00000588661:exon4:c.243+2T>A;ENST00000587194:exon5:c.342+2T>A;ENST00000590123:exon5:c.386+2T>A)	.	.	0.999976497614174	0.894
18	55282872	C	A	18	57615640	y	y	splicing	NARS(NM_004539:exon5:c.342+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.342+1G>T;ENST00000423481:exon5:c.4+1G>T;ENST00000586807:exon5:c.342+1G>T;ENST00000540592:exon5:c.342+1G>T;ENST00000587675:exon4:c.138+1G>T;ENST00000588661:exon4:c.243+1G>T;ENST00000587194:exon5:c.342+1G>T;ENST00000590123:exon5:c.386+1G>T)	.	.	0.999989263107695	0.936
18	55282872	C	G	18	57615640	y	y	splicing	NARS(NM_004539:exon5:c.342+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.342+1G>C;ENST00000423481:exon5:c.4+1G>C;ENST00000586807:exon5:c.342+1G>C;ENST00000540592:exon5:c.342+1G>C;ENST00000587675:exon4:c.138+1G>C;ENST00000588661:exon4:c.243+1G>C;ENST00000587194:exon5:c.342+1G>C;ENST00000590123:exon5:c.386+1G>C)	.	.	0.999989263107695	0.936
18	55282872	C	T	18	57615640	y	y	splicing	NARS(NM_004539:exon5:c.342+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.342+1G>A;ENST00000423481:exon5:c.4+1G>A;ENST00000586807:exon5:c.342+1G>A;ENST00000540592:exon5:c.342+1G>A;ENST00000587675:exon4:c.138+1G>A;ENST00000588661:exon4:c.243+1G>A;ENST00000587194:exon5:c.342+1G>A;ENST00000590123:exon5:c.386+1G>A)	.	.	0.999989263107695	0.936
18	55282873	A	C	18	57615641	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.T342G:p.C114W;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.T243G:p.C81W;ENSG00000134440:ENST00000423481:exon4:c.T4G:p.C2G;ENSG00000134440:ENST00000586807:exon4:c.T342G:p.C114W;ENSG00000134440:ENST00000540592:exon4:c.T342G:p.C114W;ENSG00000134440:ENST00000587675:exon3:c.T138G:p.C46W;ENSG00000134440:ENST00000587194:exon4:c.T342G:p.C114W;ENSG00000134440:ENST00000256854:exon4:c.T342G:p.C114W;	2.07993383526615E-4	0.06
18	55282873	A	G	18	57615641	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon4:c.T342C:p.C114C;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000423481:exon4:c.T4C:p.C2R;	0.00332002715066023	0.212
18	55282873	A	T	18	57615641	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon4:c.T342A:p.C114X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000588661:exon3:c.T243A:p.C81X;ENSG00000134440:ENST00000586807:exon4:c.T342A:p.C114X;ENSG00000134440:ENST00000540592:exon4:c.T342A:p.C114X;ENSG00000134440:ENST00000587675:exon3:c.T138A:p.C46X;ENSG00000134440:ENST00000587194:exon4:c.T342A:p.C114X;ENSG00000134440:ENST00000256854:exon4:c.T342A:p.C114X;	0.0186277675551376	0.398
18	55282874	C	A	18	57615642	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.G341T:p.C114F;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.G242T:p.C81F;ENSG00000134440:ENST00000423481:exon4:c.G3T:p.M1I;ENSG00000134440:ENST00000586807:exon4:c.G341T:p.C114F;ENSG00000134440:ENST00000540592:exon4:c.G341T:p.C114F;ENSG00000134440:ENST00000587675:exon3:c.G137T:p.C46F;ENSG00000134440:ENST00000587194:exon4:c.G341T:p.C114F;ENSG00000134440:ENST00000256854:exon4:c.G341T:p.C114F;	0.092324997760631	0.208
18	55282874	C	G	18	57615642	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.G341C:p.C114S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.G242C:p.C81S;ENSG00000134440:ENST00000423481:exon4:c.G3C:p.M1I;ENSG00000134440:ENST00000586807:exon4:c.G341C:p.C114S;ENSG00000134440:ENST00000540592:exon4:c.G341C:p.C114S;ENSG00000134440:ENST00000587675:exon3:c.G137C:p.C46S;ENSG00000134440:ENST00000587194:exon4:c.G341C:p.C114S;ENSG00000134440:ENST00000256854:exon4:c.G341C:p.C114S;	0.0856310378898915	0.126
18	55282874	C	T	18	57615642	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.G341A:p.C114Y;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.G242A:p.C81Y;ENSG00000134440:ENST00000423481:exon4:c.G3A:p.M1I;ENSG00000134440:ENST00000586807:exon4:c.G341A:p.C114Y;ENSG00000134440:ENST00000540592:exon4:c.G341A:p.C114Y;ENSG00000134440:ENST00000587675:exon3:c.G137A:p.C46Y;ENSG00000134440:ENST00000587194:exon4:c.G341A:p.C114Y;ENSG00000134440:ENST00000256854:exon4:c.G341A:p.C114Y;	0.0493674679666303	0.192
18	55282875	A	C	18	57615643	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.T340G:p.C114G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.T241G:p.C81G;ENSG00000134440:ENST00000423481:exon4:c.T2G:p.M1R;ENSG00000134440:ENST00000586807:exon4:c.T340G:p.C114G;ENSG00000134440:ENST00000540592:exon4:c.T340G:p.C114G;ENSG00000134440:ENST00000587675:exon3:c.T136G:p.C46G;ENSG00000134440:ENST00000587194:exon4:c.T340G:p.C114G;ENSG00000134440:ENST00000256854:exon4:c.T340G:p.C114G;	4.69228405840499E-4	0.078
18	55282875	A	G	18	57615643	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.T340C:p.C114R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.T241C:p.C81R;ENSG00000134440:ENST00000423481:exon4:c.T2C:p.M1T;ENSG00000134440:ENST00000586807:exon4:c.T340C:p.C114R;ENSG00000134440:ENST00000540592:exon4:c.T340C:p.C114R;ENSG00000134440:ENST00000587675:exon3:c.T136C:p.C46R;ENSG00000134440:ENST00000587194:exon4:c.T340C:p.C114R;ENSG00000134440:ENST00000256854:exon4:c.T340C:p.C114R;	3.16133016894057E-4	0.002
18	55282875	A	T	18	57615643	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.T340A:p.C114S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.T241A:p.C81S;ENSG00000134440:ENST00000423481:exon4:c.T2A:p.M1K;ENSG00000134440:ENST00000586807:exon4:c.T340A:p.C114S;ENSG00000134440:ENST00000540592:exon4:c.T340A:p.C114S;ENSG00000134440:ENST00000587675:exon3:c.T136A:p.C46S;ENSG00000134440:ENST00000587194:exon4:c.T340A:p.C114S;ENSG00000134440:ENST00000256854:exon4:c.T340A:p.C114S;	3.13806919265094E-4	0.002
18	55282961	G	A	18	57615729	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.C254T:p.A85V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.C155T:p.A52V;ENSG00000134440:ENST00000586807:exon4:c.C254T:p.A85V;ENSG00000134440:ENST00000540592:exon4:c.C254T:p.A85V;ENSG00000134440:ENST00000587675:exon3:c.C50T:p.A17V;ENSG00000134440:ENST00000587194:exon4:c.C254T:p.A85V;ENSG00000134440:ENST00000256854:exon4:c.C254T:p.A85V;	0.985862640323488	0.82
18	55282961	G	C	18	57615729	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.C254G:p.A85G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.C155G:p.A52G;ENSG00000134440:ENST00000586807:exon4:c.C254G:p.A85G;ENSG00000134440:ENST00000540592:exon4:c.C254G:p.A85G;ENSG00000134440:ENST00000587675:exon3:c.C50G:p.A17G;ENSG00000134440:ENST00000587194:exon4:c.C254G:p.A85G;ENSG00000134440:ENST00000256854:exon4:c.C254G:p.A85G;	0.981243180626324	0.824
18	55282961	G	T	18	57615729	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.C254A:p.A85E;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.C155A:p.A52E;ENSG00000134440:ENST00000586807:exon4:c.C254A:p.A85E;ENSG00000134440:ENST00000540592:exon4:c.C254A:p.A85E;ENSG00000134440:ENST00000587675:exon3:c.C50A:p.A17E;ENSG00000134440:ENST00000587194:exon4:c.C254A:p.A85E;ENSG00000134440:ENST00000256854:exon4:c.C254A:p.A85E;	0.568453781299301	0.352
18	55282962	C	A	18	57615730	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.G253T:p.A85S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.G154T:p.A52S;ENSG00000134440:ENST00000586807:exon4:c.G253T:p.A85S;ENSG00000134440:ENST00000540592:exon4:c.G253T:p.A85S;ENSG00000134440:ENST00000587675:exon3:c.G49T:p.A17S;ENSG00000134440:ENST00000587194:exon4:c.G253T:p.A85S;ENSG00000134440:ENST00000256854:exon4:c.G253T:p.A85S;	0.999929299354868	0.968
18	55282962	C	G	18	57615730	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.G253C:p.A85P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.G154C:p.A52P;ENSG00000134440:ENST00000586807:exon4:c.G253C:p.A85P;ENSG00000134440:ENST00000540592:exon4:c.G253C:p.A85P;ENSG00000134440:ENST00000587675:exon3:c.G49C:p.A17P;ENSG00000134440:ENST00000587194:exon4:c.G253C:p.A85P;ENSG00000134440:ENST00000256854:exon4:c.G253C:p.A85P;	0.999890919687571	0.902
18	55282962	C	T	18	57615730	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon4:c.G253A:p.A85T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon3:c.G154A:p.A52T;ENSG00000134440:ENST00000586807:exon4:c.G253A:p.A85T;ENSG00000134440:ENST00000540592:exon4:c.G253A:p.A85T;ENSG00000134440:ENST00000587675:exon3:c.G49A:p.A17T;ENSG00000134440:ENST00000587194:exon4:c.G253A:p.A85T;ENSG00000134440:ENST00000256854:exon4:c.G253A:p.A85T;	0.999783484169201	0.882
18	55282963	C	A	18	57615731	y	y	splicing	NARS(NM_004539:exon5:c.253-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.253-1G>T;ENST00000586807:exon5:c.253-1G>T;ENST00000540592:exon5:c.253-1G>T;ENST00000587675:exon4:c.49-1G>T;ENST00000588661:exon4:c.154-1G>T;ENST00000587194:exon5:c.253-1G>T;ENST00000590123:exon5:c.297-1G>T)	.	.	0.999868912404892	0.916
18	55282963	C	G	18	57615731	y	y	splicing	NARS(NM_004539:exon5:c.253-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.253-1G>C;ENST00000586807:exon5:c.253-1G>C;ENST00000540592:exon5:c.253-1G>C;ENST00000587675:exon4:c.49-1G>C;ENST00000588661:exon4:c.154-1G>C;ENST00000587194:exon5:c.253-1G>C;ENST00000590123:exon5:c.297-1G>C)	.	.	0.999868912404892	0.914
18	55282963	C	T	18	57615731	y	y	splicing	NARS(NM_004539:exon5:c.253-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.253-1G>A;ENST00000586807:exon5:c.253-1G>A;ENST00000540592:exon5:c.253-1G>A;ENST00000587675:exon4:c.49-1G>A;ENST00000588661:exon4:c.154-1G>A;ENST00000587194:exon5:c.253-1G>A;ENST00000590123:exon5:c.297-1G>A)	.	.	0.999868912404892	0.916
18	55282964	T	A	18	57615732	y	y	splicing	NARS(NM_004539:exon5:c.253-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.253-2A>T;ENST00000586807:exon5:c.253-2A>T;ENST00000540592:exon5:c.253-2A>T;ENST00000587675:exon4:c.49-2A>T;ENST00000588661:exon4:c.154-2A>T;ENST00000587194:exon5:c.253-2A>T;ENST00000590123:exon5:c.297-2A>T)	.	.	0.999962106820486	0.914
18	55282964	T	C	18	57615732	y	y	splicing	NARS(NM_004539:exon5:c.253-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.253-2A>G;ENST00000586807:exon5:c.253-2A>G;ENST00000540592:exon5:c.253-2A>G;ENST00000587675:exon4:c.49-2A>G;ENST00000588661:exon4:c.154-2A>G;ENST00000587194:exon5:c.253-2A>G;ENST00000590123:exon5:c.297-2A>G)	.	.	0.999962106820486	0.914
18	55282964	T	G	18	57615732	y	y	splicing	NARS(NM_004539:exon5:c.253-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon5:c.253-2A>C;ENST00000586807:exon5:c.253-2A>C;ENST00000540592:exon5:c.253-2A>C;ENST00000587675:exon4:c.49-2A>C;ENST00000588661:exon4:c.154-2A>C;ENST00000587194:exon5:c.253-2A>C;ENST00000590123:exon5:c.297-2A>C)	.	.	0.999962106820486	0.914
18	55282965	A	C	18	57615733	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.913366020578882	0.572
18	55282965	A	G	18	57615733	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.00291301951821E-4	0.034
18	55282965	A	T	18	57615733	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.4965273898828	0.466
18	55282966	A	C	18	57615734	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998548267934467	0.982
18	55282966	A	G	18	57615734	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.43019363752136E-5	0.006
18	55282966	A	T	18	57615734	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.86177636123654E-5	0.01
18	55282967	T	A	18	57615735	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00364111905751168	0.126
18	55282967	T	C	18	57615735	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999840101310683	0.948
18	55282967	T	G	18	57615735	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.39103685446855E-4	0.044
18	55282968	T	A	18	57615736	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.4995922738452E-4	0.032
18	55282968	T	C	18	57615736	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998889921173201	0.972
18	55282968	T	G	18	57615736	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.10388854755688E-4	0.146
18	55282969	T	A	18	57615737	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.91711811264176E-4	0.046
18	55282969	T	C	18	57615737	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99899084078927	0.966
18	55282969	T	G	18	57615737	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.23701907355095E-4	0.01
18	55282970	T	A	18	57615738	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.38310292220928E-4	0.046
18	55282970	T	C	18	57615738	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.91685322422693E-4	0.048
18	55282970	T	G	18	57615738	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.00535628683954E-4	0.026
18	55282971	A	C	18	57615739	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.5431798776526	0.612
18	55282971	A	G	18	57615739	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.7613201353764E-4	0.054
18	55282971	A	T	18	57615739	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.111338817899395	0.488
18	55282972	A	C	18	57615740	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998234943584919	0.938
18	55282972	A	G	18	57615740	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.91420251293669E-4	0.136
18	55282972	A	T	18	57615740	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.118376164689453	0.478
18	55282973	T	A	18	57615741	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.34013519504409E-5	0.034
18	55282973	T	C	18	57615741	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.49811638766944E-5	0.088
18	55282973	T	G	18	57615741	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.34013519504409E-5	0.026
18	55282974	G	A	18	57615742	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.98466618765701E-5	0.016
18	55282974	G	C	18	57615742	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.36959158353473E-4	0.19
18	55282974	G	T	18	57615742	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.04320917550104E-4	0.062
18	55283041	G	A	18	57615809	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.80659670282229E-5	0.008
18	55283041	G	C	18	57615809	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.80659670282229E-5	0.008
18	55283041	G	T	18	57615809	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.80659670282229E-5	0.008
18	55283042	G	A	18	57615810	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.45411080572301E-5	0.01
18	55283042	G	C	18	57615810	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.97701726024961E-5	0.008
18	55283042	G	T	18	57615810	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.3496968124486E-5	0.004
18	55283043	A	C	18	57615811	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00122646639081255	0.172
18	55283043	A	G	18	57615811	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00807692811924622	0.224
18	55283043	A	T	18	57615811	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0198727280135777	0.296
18	55283044	C	A	18	57615812	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.997641913819919	0.634
18	55283044	C	G	18	57615812	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.989975650003643	0.644
18	55283044	C	T	18	57615812	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.991358002790902	0.644
18	55283045	T	A	18	57615813	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.957700369946889	0.63
18	55283045	T	C	18	57615813	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.783836533436449	0.496
18	55283045	T	G	18	57615813	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.414079331383379	0.428
18	55283046	C	A	18	57615814	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.435875400565234	0.476
18	55283046	C	G	18	57615814	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.385055601070134	0.472
18	55283046	C	T	18	57615814	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00117880579470353	0.006
18	55283047	A	C	18	57615815	y	y	splicing	NARS(NM_004539:exon4:c.252+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon4:c.252+2T>G;ENST00000586807:exon4:c.252+2T>G;ENST00000540592:exon4:c.252+2T>G;ENST00000591599:exon4:c.252+2T>G;ENST00000587675:exon3:c.48+2T>G;ENST00000588661:exon3:c.153+2T>G;ENST00000587194:exon4:c.252+2T>G;ENST00000590123:exon4:c.296+2T>G)	.	.	0.999990155693597	0.926
18	55283047	A	G	18	57615815	y	y	splicing	NARS(NM_004539:exon4:c.252+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon4:c.252+2T>C;ENST00000586807:exon4:c.252+2T>C;ENST00000540592:exon4:c.252+2T>C;ENST00000591599:exon4:c.252+2T>C;ENST00000587675:exon3:c.48+2T>C;ENST00000588661:exon3:c.153+2T>C;ENST00000587194:exon4:c.252+2T>C;ENST00000590123:exon4:c.296+2T>C)	.	.	0.999952471728595	0.858
18	55283047	A	T	18	57615815	y	y	splicing	NARS(NM_004539:exon4:c.252+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon4:c.252+2T>A;ENST00000586807:exon4:c.252+2T>A;ENST00000540592:exon4:c.252+2T>A;ENST00000591599:exon4:c.252+2T>A;ENST00000587675:exon3:c.48+2T>A;ENST00000588661:exon3:c.153+2T>A;ENST00000587194:exon4:c.252+2T>A;ENST00000590123:exon4:c.296+2T>A)	.	.	0.999990155693597	0.926
18	55283048	C	A	18	57615816	y	y	splicing	NARS(NM_004539:exon4:c.252+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon4:c.252+1G>T;ENST00000586807:exon4:c.252+1G>T;ENST00000540592:exon4:c.252+1G>T;ENST00000591599:exon4:c.252+1G>T;ENST00000587675:exon3:c.48+1G>T;ENST00000588661:exon3:c.153+1G>T;ENST00000587194:exon4:c.252+1G>T;ENST00000590123:exon4:c.296+1G>T)	.	.	0.999981760802075	0.932
18	55283048	C	G	18	57615816	y	y	splicing	NARS(NM_004539:exon4:c.252+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon4:c.252+1G>C;ENST00000586807:exon4:c.252+1G>C;ENST00000540592:exon4:c.252+1G>C;ENST00000591599:exon4:c.252+1G>C;ENST00000587675:exon3:c.48+1G>C;ENST00000588661:exon3:c.153+1G>C;ENST00000587194:exon4:c.252+1G>C;ENST00000590123:exon4:c.296+1G>C)	.	.	0.999981760802075	0.932
18	55283048	C	T	18	57615816	y	y	splicing	NARS(NM_004539:exon4:c.252+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon4:c.252+1G>A;ENST00000586807:exon4:c.252+1G>A;ENST00000540592:exon4:c.252+1G>A;ENST00000591599:exon4:c.252+1G>A;ENST00000587675:exon3:c.48+1G>A;ENST00000588661:exon3:c.153+1G>A;ENST00000587194:exon4:c.252+1G>A;ENST00000590123:exon4:c.296+1G>A)	.	.	0.999981760802075	0.932
18	55283049	C	A	18	57615817	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.G252T:p.E84D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon2:c.G153T:p.E51D;ENSG00000134440:ENST00000586807:exon3:c.G252T:p.E84D;ENSG00000134440:ENST00000540592:exon3:c.G252T:p.E84D;ENSG00000134440:ENST00000587675:exon2:c.G48T:p.E16D;ENSG00000134440:ENST00000591599:exon3:c.G252T:p.E84D;ENSG00000134440:ENST00000587194:exon3:c.G252T:p.E84D;ENSG00000134440:ENST00000256854:exon3:c.G252T:p.E84D;	0.999567229843396	0.982
18	55283049	C	G	18	57615817	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.G252C:p.E84D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon2:c.G153C:p.E51D;ENSG00000134440:ENST00000586807:exon3:c.G252C:p.E84D;ENSG00000134440:ENST00000540592:exon3:c.G252C:p.E84D;ENSG00000134440:ENST00000587675:exon2:c.G48C:p.E16D;ENSG00000134440:ENST00000591599:exon3:c.G252C:p.E84D;ENSG00000134440:ENST00000587194:exon3:c.G252C:p.E84D;ENSG00000134440:ENST00000256854:exon3:c.G252C:p.E84D;	0.999111859899666	0.926
18	55283049	C	T	18	57615817	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon3:c.G252A:p.E84E;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000588661:exon2:c.G153A:p.E51E;ENSG00000134440:ENST00000586807:exon3:c.G252A:p.E84E;ENSG00000134440:ENST00000540592:exon3:c.G252A:p.E84E;ENSG00000134440:ENST00000587675:exon2:c.G48A:p.E16E;ENSG00000134440:ENST00000591599:exon3:c.G252A:p.E84E;ENSG00000134440:ENST00000587194:exon3:c.G252A:p.E84E;ENSG00000134440:ENST00000256854:exon3:c.G252A:p.E84E;	0.992739669104311	0.798
18	55283050	T	A	18	57615818	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.A251T:p.E84V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon2:c.A152T:p.E51V;ENSG00000134440:ENST00000586807:exon3:c.A251T:p.E84V;ENSG00000134440:ENST00000540592:exon3:c.A251T:p.E84V;ENSG00000134440:ENST00000587675:exon2:c.A47T:p.E16V;ENSG00000134440:ENST00000591599:exon3:c.A251T:p.E84V;ENSG00000134440:ENST00000587194:exon3:c.A251T:p.E84V;ENSG00000134440:ENST00000256854:exon3:c.A251T:p.E84V;	0.98799794219231	0.726
18	55283050	T	C	18	57615818	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.A251G:p.E84G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon2:c.A152G:p.E51G;ENSG00000134440:ENST00000586807:exon3:c.A251G:p.E84G;ENSG00000134440:ENST00000540592:exon3:c.A251G:p.E84G;ENSG00000134440:ENST00000587675:exon2:c.A47G:p.E16G;ENSG00000134440:ENST00000591599:exon3:c.A251G:p.E84G;ENSG00000134440:ENST00000587194:exon3:c.A251G:p.E84G;ENSG00000134440:ENST00000256854:exon3:c.A251G:p.E84G;	0.995935370329272	0.936
18	55283050	T	G	18	57615818	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.A251C:p.E84A;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon2:c.A152C:p.E51A;ENSG00000134440:ENST00000586807:exon3:c.A251C:p.E84A;ENSG00000134440:ENST00000540592:exon3:c.A251C:p.E84A;ENSG00000134440:ENST00000587675:exon2:c.A47C:p.E16A;ENSG00000134440:ENST00000591599:exon3:c.A251C:p.E84A;ENSG00000134440:ENST00000587194:exon3:c.A251C:p.E84A;ENSG00000134440:ENST00000256854:exon3:c.A251C:p.E84A;	0.981864415297738	0.846
18	55283051	C	A	18	57615819	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon3:c.G250T:p.E84X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000588661:exon2:c.G151T:p.E51X;ENSG00000134440:ENST00000586807:exon3:c.G250T:p.E84X;ENSG00000134440:ENST00000540592:exon3:c.G250T:p.E84X;ENSG00000134440:ENST00000587675:exon2:c.G46T:p.E16X;ENSG00000134440:ENST00000591599:exon3:c.G250T:p.E84X;ENSG00000134440:ENST00000587194:exon3:c.G250T:p.E84X;ENSG00000134440:ENST00000256854:exon3:c.G250T:p.E84X;	0.138164573191931	0.538
18	55283051	C	G	18	57615819	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.G250C:p.E84Q;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon2:c.G151C:p.E51Q;ENSG00000134440:ENST00000586807:exon3:c.G250C:p.E84Q;ENSG00000134440:ENST00000540592:exon3:c.G250C:p.E84Q;ENSG00000134440:ENST00000587675:exon2:c.G46C:p.E16Q;ENSG00000134440:ENST00000591599:exon3:c.G250C:p.E84Q;ENSG00000134440:ENST00000587194:exon3:c.G250C:p.E84Q;ENSG00000134440:ENST00000256854:exon3:c.G250C:p.E84Q;	0.0117789796207378	0.254
18	55283051	C	T	18	57615819	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.G250A:p.E84K;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000588661:exon2:c.G151A:p.E51K;ENSG00000134440:ENST00000586807:exon3:c.G250A:p.E84K;ENSG00000134440:ENST00000540592:exon3:c.G250A:p.E84K;ENSG00000134440:ENST00000587675:exon2:c.G46A:p.E16K;ENSG00000134440:ENST00000591599:exon3:c.G250A:p.E84K;ENSG00000134440:ENST00000587194:exon3:c.G250A:p.E84K;ENSG00000134440:ENST00000256854:exon3:c.G250A:p.E84K;	0.0302732136964299	0.396
18	55283206	G	A	18	57615974	y	n	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.C95T:p.A32V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon3:c.C95T:p.A32V;ENSG00000134440:ENST00000540592:exon3:c.C95T:p.A32V;ENSG00000134440:ENST00000591599:exon3:c.C95T:p.A32V;ENSG00000134440:ENST00000590123:exon3:c.C139T:p.L47F;ENSG00000134440:ENST00000587194:exon3:c.C95T:p.A32V;ENSG00000134440:ENST00000256854:exon3:c.C95T:p.A32V;	0.977230101093236	0.81
18	55283206	G	C	18	57615974	y	n	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.C95G:p.A32G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon3:c.C95G:p.A32G;ENSG00000134440:ENST00000540592:exon3:c.C95G:p.A32G;ENSG00000134440:ENST00000591599:exon3:c.C95G:p.A32G;ENSG00000134440:ENST00000590123:exon3:c.C139G:p.L47V;ENSG00000134440:ENST00000587194:exon3:c.C95G:p.A32G;ENSG00000134440:ENST00000256854:exon3:c.C95G:p.A32G;	0.981872346845499	0.838
18	55283206	G	T	18	57615974	y	n	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.C95A:p.A32D;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon3:c.C95A:p.A32D;ENSG00000134440:ENST00000540592:exon3:c.C95A:p.A32D;ENSG00000134440:ENST00000591599:exon3:c.C95A:p.A32D;ENSG00000134440:ENST00000590123:exon3:c.C139A:p.L47I;ENSG00000134440:ENST00000587194:exon3:c.C95A:p.A32D;ENSG00000134440:ENST00000256854:exon3:c.C95A:p.A32D;	0.988515374746432	0.9
18	55283207	C	A	18	57615975	y	n	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.G94T:p.A32S;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon3:c.G94T:p.A32S;ENSG00000134440:ENST00000540592:exon3:c.G94T:p.A32S;ENSG00000134440:ENST00000591599:exon3:c.G94T:p.A32S;ENSG00000134440:ENST00000590123:exon3:c.G138T:p.R46S;ENSG00000134440:ENST00000587194:exon3:c.G94T:p.A32S;ENSG00000134440:ENST00000256854:exon3:c.G94T:p.A32S;	0.999523018244164	0.958
18	55283207	C	G	18	57615975	y	n	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.G94C:p.A32P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon3:c.G94C:p.A32P;ENSG00000134440:ENST00000540592:exon3:c.G94C:p.A32P;ENSG00000134440:ENST00000591599:exon3:c.G94C:p.A32P;ENSG00000134440:ENST00000590123:exon3:c.G138C:p.R46S;ENSG00000134440:ENST00000587194:exon3:c.G94C:p.A32P;ENSG00000134440:ENST00000256854:exon3:c.G94C:p.A32P;	0.999498788075737	0.952
18	55283207	C	T	18	57615975	y	n	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon3:c.G94A:p.A32T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon3:c.G94A:p.A32T;ENSG00000134440:ENST00000540592:exon3:c.G94A:p.A32T;ENSG00000134440:ENST00000591599:exon3:c.G94A:p.A32T;ENSG00000134440:ENST00000587194:exon3:c.G94A:p.A32T;ENSG00000134440:ENST00000256854:exon3:c.G94A:p.A32T;	0.982415271351336	0.816
18	55283208	C	A	18	57615976	y	n	splicing	NARS(NM_004539:exon4:c.94-1G>T)	.	.	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000256854:exon4:c.94-1G>T;ENST00000586807:exon4:c.94-1G>T;ENST00000540592:exon4:c.94-1G>T;ENST00000591599:exon4:c.94-1G>T;ENST00000587194:exon4:c.94-1G>T)	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.G137T:p.R46M;	0.999947360352648	0.912
18	55283208	C	G	18	57615976	y	n	splicing	NARS(NM_004539:exon4:c.94-1G>C)	.	.	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000256854:exon4:c.94-1G>C;ENST00000586807:exon4:c.94-1G>C;ENST00000540592:exon4:c.94-1G>C;ENST00000591599:exon4:c.94-1G>C;ENST00000587194:exon4:c.94-1G>C)	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.G137C:p.R46T;	0.999947360352648	0.916
18	55283208	C	T	18	57615976	y	n	splicing	NARS(NM_004539:exon4:c.94-1G>A)	.	.	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000256854:exon4:c.94-1G>A;ENST00000586807:exon4:c.94-1G>A;ENST00000540592:exon4:c.94-1G>A;ENST00000591599:exon4:c.94-1G>A;ENST00000587194:exon4:c.94-1G>A)	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.G137A:p.R46K;	0.999947360352648	0.906
18	55283209	T	A	18	57615977	y	n	splicing	NARS(NM_004539:exon4:c.94-2A>T)	.	.	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000256854:exon4:c.94-2A>T;ENST00000586807:exon4:c.94-2A>T;ENST00000540592:exon4:c.94-2A>T;ENST00000591599:exon4:c.94-2A>T;ENST00000587194:exon4:c.94-2A>T)	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A136T:p.R46W;	0.999992076683048	0.932
18	55283209	T	C	18	57615977	y	n	splicing	NARS(NM_004539:exon4:c.94-2A>G)	.	.	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000256854:exon4:c.94-2A>G;ENST00000586807:exon4:c.94-2A>G;ENST00000540592:exon4:c.94-2A>G;ENST00000591599:exon4:c.94-2A>G;ENST00000587194:exon4:c.94-2A>G)	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A136G:p.R46G;	0.999992076683048	0.932
18	55283209	T	G	18	57615977	y	n	splicing	NARS(NM_004539:exon4:c.94-2A>C)	.	.	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000256854:exon4:c.94-2A>C;ENST00000586807:exon4:c.94-2A>C;ENST00000540592:exon4:c.94-2A>C;ENST00000591599:exon4:c.94-2A>C;ENST00000587194:exon4:c.94-2A>C)	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A136C:p.R46R;	0.999992076683048	0.932
18	55283210	T	A	18	57615978	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A135T:p.P45P;	3.3725589871765E-4	0.032
18	55283210	T	C	18	57615978	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A135G:p.P45P;	0.00131465804167868	0.226
18	55283210	T	G	18	57615978	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A135C:p.P45P;	3.1769271632878E-4	0.048
18	55283211	G	A	18	57615979	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C134T:p.P45L;	4.70138453345622E-4	0.022
18	55283211	G	C	18	57615979	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C134G:p.P45R;	0.00136262378307931	0.094
18	55283211	G	T	18	57615979	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C134A:p.P45Q;	4.74524743634185E-4	0.014
18	55283212	G	A	18	57615980	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C133T:p.P45S;	3.08369889113964E-5	0.01
18	55283212	G	C	18	57615980	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C133G:p.P45A;	0.00636460163521932	0.27
18	55283212	G	T	18	57615980	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C133A:p.P45T;	0.00184998623139513	0.144
18	55283213	G	A	18	57615981	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C132T:p.Y44Y;	8.58449839639795E-5	0.0
18	55283213	G	C	18	57615981	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000590123:exon3:c.C132G:p.Y44X;	0.999954155540904	0.94
18	55283213	G	T	18	57615981	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000590123:exon3:c.C132A:p.Y44X;	0.00291550736499871	0.17
18	55283214	T	A	18	57615982	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A131T:p.Y44F;	7.30598340502814E-5	0.016
18	55283214	T	C	18	57615982	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A131G:p.Y44C;	5.49727690495778E-5	0.004
18	55283214	T	G	18	57615982	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A131C:p.Y44S;	7.273148583649E-5	0.01
18	55283215	A	C	18	57615983	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T130G:p.Y44D;	0.00295965929375732	0.216
18	55283215	A	G	18	57615983	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T130C:p.Y44H;	2.99777541076149E-4	0.012
18	55283215	A	T	18	57615983	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T130A:p.Y44N;	0.00534109954256238	0.176
18	55283216	G	A	18	57615984	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C129T:p.P43P;	4.49547698566061E-5	0.0
18	55283216	G	C	18	57615984	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C129G:p.P43P;	0.00255870792042256	0.1
18	55283216	G	T	18	57615984	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C129A:p.P43P;	0.00326041456691988	0.102
18	55283217	G	A	18	57615985	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C128T:p.P43L;	5.82115603612096E-5	0.002
18	55283217	G	C	18	57615985	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C128G:p.P43R;	0.00195051267789266	0.082
18	55283217	G	T	18	57615985	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C128A:p.P43H;	0.00272966159714469	0.084
18	55283218	G	A	18	57615986	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C127T:p.P43S;	6.75424361211694E-5	0.084
18	55283218	G	C	18	57615986	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C127G:p.P43A;	2.71349063568614E-4	0.084
18	55283218	G	T	18	57615986	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.C127A:p.P43T;	0.00168879581355295	0.12
18	55283219	A	C	18	57615987	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T126G:p.P42P;	0.0520488827269186	0.382
18	55283219	A	G	18	57615987	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T126C:p.P42P;	0.0149019574130206	0.256
18	55283219	A	T	18	57615987	y	n	intronic	NARS	.	.	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T126A:p.P42P;	0.254973780357702	0.446
18	55283253	T	A	18	57616021	n	y	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A92T:p.Y31F;	2.7829240274771E-5	0.0
18	55283253	T	C	18	57616021	n	y	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A92G:p.Y31C;	2.7829240274771E-5	0.0
18	55283253	T	G	18	57616021	n	y	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.A92C:p.Y31S;	2.7829240274771E-5	0.0
18	55283254	A	C	18	57616022	n	y	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T91G:p.Y31D;	3.96653435898131E-5	0.0
18	55283254	A	G	18	57616022	n	y	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T91C:p.Y31H;	3.96653435898131E-5	0.0
18	55283254	A	T	18	57616022	n	y	intronic	NARS	.	.	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000590123:exon3:c.T91A:p.Y31N;	1.06444635118673E-4	0.0
18	55283255	C	A	18	57616023	n	y	intronic	NARS	.	.	splicing	ENSG00000134440(ENST00000590123:exon4:c.91-1G>T)	.	.	6.51383879749987E-5	0.0
18	55283255	C	G	18	57616023	n	y	intronic	NARS	.	.	splicing	ENSG00000134440(ENST00000590123:exon4:c.91-1G>C)	.	.	6.51383879749987E-5	0.0
18	55283255	C	T	18	57616023	n	y	intronic	NARS	.	.	splicing	ENSG00000134440(ENST00000590123:exon4:c.91-1G>A)	.	.	7.18924664478357E-5	0.002
18	55283256	T	A	18	57616024	n	y	intronic	NARS	.	.	splicing	ENSG00000134440(ENST00000590123:exon4:c.91-2A>T)	.	.	3.85811642174992E-4	0.036
18	55283256	T	C	18	57616024	n	y	intronic	NARS	.	.	splicing	ENSG00000134440(ENST00000590123:exon4:c.91-2A>G)	.	.	5.60122732830353E-4	0.044
18	55283256	T	G	18	57616024	n	y	intronic	NARS	.	.	splicing	ENSG00000134440(ENST00000590123:exon4:c.91-2A>C)	.	.	5.60122732830353E-4	0.044
18	55283257	T	A	18	57616025	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.23857086405658E-4	0.0
18	55283257	T	C	18	57616025	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.06444635118673E-4	0.0
18	55283257	T	G	18	57616025	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.06444635118673E-4	0.0
18	55283258	A	C	18	57616026	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	7.26478224793163E-5	0.0
18	55283258	A	G	18	57616026	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.03493156808321E-5	0.0
18	55283258	A	T	18	57616026	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.40094287361931E-5	0.0
18	55283259	A	C	18	57616027	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.93008933363103E-5	0.0
18	55283259	A	G	18	57616027	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.93008933363103E-5	0.0
18	55283259	A	T	18	57616027	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.93008933363103E-5	0.0
18	55283260	A	C	18	57616028	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.69439264402225E-5	0.002
18	55283260	A	G	18	57616028	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.69439264402225E-5	0.002
18	55283260	A	T	18	57616028	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.69439264402225E-5	0.002
18	55283261	A	C	18	57616029	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00124011247332332	0.02
18	55283261	A	G	18	57616029	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00124011247332332	0.02
18	55283261	A	T	18	57616029	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00217586145985526	0.02
18	55283262	T	A	18	57616030	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.54135289458511E-4	0.038
18	55283262	T	C	18	57616030	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.0741602852464E-4	0.048
18	55283262	T	G	18	57616030	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.9389375309937E-4	0.048
18	55283263	C	A	18	57616031	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.8057869992506E-5	0.01
18	55283263	C	G	18	57616031	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.8057869992506E-5	0.01
18	55283263	C	T	18	57616031	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.8057869992506E-5	0.01
18	55283264	A	C	18	57616032	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.81984393052081E-4	0.014
18	55283264	A	G	18	57616032	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.81984393052081E-4	0.014
18	55283264	A	T	18	57616032	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00163920954224159	0.014
18	55283265	A	C	18	57616033	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.2886448328189E-5	0.0
18	55283265	A	G	18	57616033	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.2886448328189E-5	0.0
18	55283265	A	T	18	57616033	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.97728621093963E-5	0.0
18	55283266	A	C	18	57616034	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.50312366030491E-5	0.0
18	55283266	A	G	18	57616034	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.50312366030491E-5	0.0
18	55283266	A	T	18	57616034	n	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.03493156808321E-5	0.0
18	55287793	G	A	18	57620561	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00191499079409701	0.096
18	55287793	G	C	18	57620561	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00211117713882937	0.074
18	55287793	G	T	18	57620561	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0023712955474821	0.082
18	55287794	A	C	18	57620562	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.83975553899387E-4	0.094
18	55287794	A	G	18	57620562	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	6.56050965632958E-4	0.094
18	55287794	A	T	18	57620562	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.60125511896718E-4	0.114
18	55287795	C	A	18	57620563	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.35942143087267E-4	0.018
18	55287795	C	G	18	57620563	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00124529869506471	0.048
18	55287795	C	T	18	57620563	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00140492946906839	0.072
18	55287796	T	A	18	57620564	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.67794905117436E-4	0.036
18	55287796	T	C	18	57620564	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	8.0452948402853E-5	0.038
18	55287796	T	G	18	57620564	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.99778483248438E-5	0.058
18	55287797	C	A	18	57620565	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00133631717885792	0.178
18	55287797	C	G	18	57620565	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.90153870048497E-4	0.234
18	55287797	C	T	18	57620565	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.17577120925449E-4	0.08
18	55287798	T	A	18	57620566	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999965938511148	0.876
18	55287798	T	C	18	57620566	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999879188875242	0.946
18	55287798	T	G	18	57620566	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999973452612412	0.892
18	55287799	A	C	18	57620567	y	y	splicing	NARS(NM_004539:exon3:c.93+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.93+2T>G;ENST00000586807:exon3:c.93+2T>G;ENST00000540592:exon3:c.93+2T>G;ENST00000591599:exon3:c.93+2T>G;ENST00000587194:exon3:c.93+2T>G;ENST00000590123:exon3:c.90+2T>G)	.	.	0.999988247793601	0.94
18	55287799	A	G	18	57620567	y	y	splicing	NARS(NM_004539:exon3:c.93+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.93+2T>C;ENST00000586807:exon3:c.93+2T>C;ENST00000540592:exon3:c.93+2T>C;ENST00000591599:exon3:c.93+2T>C;ENST00000587194:exon3:c.93+2T>C;ENST00000590123:exon3:c.90+2T>C)	.	.	0.992054276455321	0.626
18	55287799	A	T	18	57620567	y	y	splicing	NARS(NM_004539:exon3:c.93+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.93+2T>A;ENST00000586807:exon3:c.93+2T>A;ENST00000540592:exon3:c.93+2T>A;ENST00000591599:exon3:c.93+2T>A;ENST00000587194:exon3:c.93+2T>A;ENST00000590123:exon3:c.90+2T>A)	.	.	0.999988247793601	0.94
18	55287800	C	A	18	57620568	y	y	splicing	NARS(NM_004539:exon3:c.93+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.93+1G>T;ENST00000586807:exon3:c.93+1G>T;ENST00000540592:exon3:c.93+1G>T;ENST00000591599:exon3:c.93+1G>T;ENST00000587194:exon3:c.93+1G>T;ENST00000590123:exon3:c.90+1G>T)	.	.	0.999989072007339	0.946
18	55287800	C	G	18	57620568	y	y	splicing	NARS(NM_004539:exon3:c.93+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.93+1G>C;ENST00000586807:exon3:c.93+1G>C;ENST00000540592:exon3:c.93+1G>C;ENST00000591599:exon3:c.93+1G>C;ENST00000587194:exon3:c.93+1G>C;ENST00000590123:exon3:c.90+1G>C)	.	.	0.999989072007339	0.946
18	55287800	C	T	18	57620568	y	y	splicing	NARS(NM_004539:exon3:c.93+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.93+1G>A;ENST00000586807:exon3:c.93+1G>A;ENST00000540592:exon3:c.93+1G>A;ENST00000591599:exon3:c.93+1G>A;ENST00000587194:exon3:c.93+1G>A;ENST00000590123:exon3:c.90+1G>A)	.	.	0.999989072007339	0.946
18	55287801	C	A	18	57620569	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.G93T:p.K31N;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.G93T:p.K31N;ENSG00000134440:ENST00000540592:exon2:c.G93T:p.K31N;ENSG00000134440:ENST00000591599:exon2:c.G93T:p.K31N;ENSG00000134440:ENST00000590123:exon2:c.G90T:p.K30N;ENSG00000134440:ENST00000587194:exon2:c.G93T:p.K31N;ENSG00000134440:ENST00000256854:exon2:c.G93T:p.K31N;	0.999990641641815	1.0
18	55287801	C	G	18	57620569	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.G93C:p.K31N;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.G93C:p.K31N;ENSG00000134440:ENST00000540592:exon2:c.G93C:p.K31N;ENSG00000134440:ENST00000591599:exon2:c.G93C:p.K31N;ENSG00000134440:ENST00000590123:exon2:c.G90C:p.K30N;ENSG00000134440:ENST00000587194:exon2:c.G93C:p.K31N;ENSG00000134440:ENST00000256854:exon2:c.G93C:p.K31N;	0.999997007324834	1.0
18	55287801	C	T	18	57620569	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon2:c.G93A:p.K31K;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.G93A:p.K31K;ENSG00000134440:ENST00000540592:exon2:c.G93A:p.K31K;ENSG00000134440:ENST00000591599:exon2:c.G93A:p.K31K;ENSG00000134440:ENST00000590123:exon2:c.G90A:p.K30K;ENSG00000134440:ENST00000587194:exon2:c.G93A:p.K31K;ENSG00000134440:ENST00000256854:exon2:c.G93A:p.K31K;	0.999989772371009	0.998
18	55287802	T	A	18	57620570	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.A92T:p.K31M;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.A92T:p.K31M;ENSG00000134440:ENST00000540592:exon2:c.A92T:p.K31M;ENSG00000134440:ENST00000591599:exon2:c.A92T:p.K31M;ENSG00000134440:ENST00000590123:exon2:c.A89T:p.K30M;ENSG00000134440:ENST00000587194:exon2:c.A92T:p.K31M;ENSG00000134440:ENST00000256854:exon2:c.A92T:p.K31M;	0.999969201475384	0.998
18	55287802	T	C	18	57620570	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.A92G:p.K31R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.A92G:p.K31R;ENSG00000134440:ENST00000540592:exon2:c.A92G:p.K31R;ENSG00000134440:ENST00000591599:exon2:c.A92G:p.K31R;ENSG00000134440:ENST00000590123:exon2:c.A89G:p.K30R;ENSG00000134440:ENST00000587194:exon2:c.A92G:p.K31R;ENSG00000134440:ENST00000256854:exon2:c.A92G:p.K31R;	0.999875476427493	0.994
18	55287802	T	G	18	57620570	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.A92C:p.K31T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.A92C:p.K31T;ENSG00000134440:ENST00000540592:exon2:c.A92C:p.K31T;ENSG00000134440:ENST00000591599:exon2:c.A92C:p.K31T;ENSG00000134440:ENST00000590123:exon2:c.A89C:p.K30T;ENSG00000134440:ENST00000587194:exon2:c.A92C:p.K31T;ENSG00000134440:ENST00000256854:exon2:c.A92C:p.K31T;	0.998625466022539	0.964
18	55287803	T	A	18	57620571	y	y	exonic	NARS	stopgain SNV	NARS:NM_004539:exon2:c.A91T:p.K31X;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000586807:exon2:c.A91T:p.K31X;ENSG00000134440:ENST00000540592:exon2:c.A91T:p.K31X;ENSG00000134440:ENST00000591599:exon2:c.A91T:p.K31X;ENSG00000134440:ENST00000590123:exon2:c.A88T:p.K30X;ENSG00000134440:ENST00000587194:exon2:c.A91T:p.K31X;ENSG00000134440:ENST00000256854:exon2:c.A91T:p.K31X;	0.999041156197558	0.896
18	55287803	T	C	18	57620571	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.A91G:p.K31E;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.A91G:p.K31E;ENSG00000134440:ENST00000540592:exon2:c.A91G:p.K31E;ENSG00000134440:ENST00000591599:exon2:c.A91G:p.K31E;ENSG00000134440:ENST00000590123:exon2:c.A88G:p.K30E;ENSG00000134440:ENST00000587194:exon2:c.A91G:p.K31E;ENSG00000134440:ENST00000256854:exon2:c.A91G:p.K31E;	0.747278998041452	0.484
18	55287803	T	G	18	57620571	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.A91C:p.K31Q;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.A91C:p.K31Q;ENSG00000134440:ENST00000540592:exon2:c.A91C:p.K31Q;ENSG00000134440:ENST00000591599:exon2:c.A91C:p.K31Q;ENSG00000134440:ENST00000590123:exon2:c.A88C:p.K30Q;ENSG00000134440:ENST00000587194:exon2:c.A91C:p.K31Q;ENSG00000134440:ENST00000256854:exon2:c.A91C:p.K31Q;	0.00615237987682987	0.05
18	55287882	T	A	18	57620650	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon2:c.A12T:p.A4A;	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000590123:exon3:c.11-2A>T)	synonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.A12T:p.A4A;ENSG00000134440:ENST00000540592:exon2:c.A12T:p.A4A;ENSG00000134440:ENST00000591599:exon2:c.A12T:p.A4A;ENSG00000134440:ENST00000587194:exon2:c.A12T:p.A4A;ENSG00000134440:ENST00000256854:exon2:c.A12T:p.A4A;	0.00214157419323819	0.048
18	55287882	T	C	18	57620650	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon2:c.A12G:p.A4A;	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000590123:exon3:c.11-2A>G)	synonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.A12G:p.A4A;ENSG00000134440:ENST00000540592:exon2:c.A12G:p.A4A;ENSG00000134440:ENST00000591599:exon2:c.A12G:p.A4A;ENSG00000134440:ENST00000587194:exon2:c.A12G:p.A4A;ENSG00000134440:ENST00000256854:exon2:c.A12G:p.A4A;	0.00125211135939896	0.024
18	55287882	T	G	18	57620650	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon2:c.A12C:p.A4A;	exonic;splicing	ENSG00000134440;ENSG00000134440(ENST00000590123:exon3:c.11-2A>C)	synonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.A12C:p.A4A;ENSG00000134440:ENST00000540592:exon2:c.A12C:p.A4A;ENSG00000134440:ENST00000591599:exon2:c.A12C:p.A4A;ENSG00000134440:ENST00000587194:exon2:c.A12C:p.A4A;ENSG00000134440:ENST00000256854:exon2:c.A12C:p.A4A;	0.00110864016327784	0.032
18	55287883	G	A	18	57620651	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.C11T:p.A4V;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.C11T:p.A4V;ENSG00000134440:ENST00000540592:exon2:c.C11T:p.A4V;ENSG00000134440:ENST00000591599:exon2:c.C11T:p.A4V;ENSG00000134440:ENST00000587194:exon2:c.C11T:p.A4V;ENSG00000134440:ENST00000256854:exon2:c.C11T:p.A4V;	0.0170358777596571	0.564
18	55287883	G	C	18	57620651	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.C11G:p.A4G;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.C11G:p.A4G;ENSG00000134440:ENST00000540592:exon2:c.C11G:p.A4G;ENSG00000134440:ENST00000591599:exon2:c.C11G:p.A4G;ENSG00000134440:ENST00000587194:exon2:c.C11G:p.A4G;ENSG00000134440:ENST00000256854:exon2:c.C11G:p.A4G;	7.0793279561129E-4	0.204
18	55287883	G	T	18	57620651	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon2:c.C11A:p.A4E;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon2:c.C11A:p.A4E;ENSG00000134440:ENST00000540592:exon2:c.C11A:p.A4E;ENSG00000134440:ENST00000591599:exon2:c.C11A:p.A4E;ENSG00000134440:ENST00000587194:exon2:c.C11A:p.A4E;ENSG00000134440:ENST00000256854:exon2:c.C11A:p.A4E;	6.18153989937126E-4	0.114
18	55287884	C	A	18	57620652	y	y	splicing	NARS(NM_004539:exon3:c.11-1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.11-1G>T;ENST00000586807:exon3:c.11-1G>T;ENST00000540592:exon3:c.11-1G>T;ENST00000591599:exon3:c.11-1G>T;ENST00000587194:exon3:c.11-1G>T)	.	.	0.995549912103742	0.592
18	55287884	C	G	18	57620652	y	y	splicing	NARS(NM_004539:exon3:c.11-1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.11-1G>C;ENST00000586807:exon3:c.11-1G>C;ENST00000540592:exon3:c.11-1G>C;ENST00000591599:exon3:c.11-1G>C;ENST00000587194:exon3:c.11-1G>C)	.	.	0.995549912103742	0.59
18	55287884	C	T	18	57620652	y	y	splicing	NARS(NM_004539:exon3:c.11-1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.11-1G>A;ENST00000586807:exon3:c.11-1G>A;ENST00000540592:exon3:c.11-1G>A;ENST00000591599:exon3:c.11-1G>A;ENST00000587194:exon3:c.11-1G>A)	.	.	0.995549912103742	0.596
18	55287885	T	A	18	57620653	y	y	splicing	NARS(NM_004539:exon3:c.11-2A>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.11-2A>T;ENST00000586807:exon3:c.11-2A>T;ENST00000540592:exon3:c.11-2A>T;ENST00000591599:exon3:c.11-2A>T;ENST00000587194:exon3:c.11-2A>T)	.	.	0.999955202219928	0.914
18	55287885	T	C	18	57620653	y	y	splicing	NARS(NM_004539:exon3:c.11-2A>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.11-2A>G;ENST00000586807:exon3:c.11-2A>G;ENST00000540592:exon3:c.11-2A>G;ENST00000591599:exon3:c.11-2A>G;ENST00000587194:exon3:c.11-2A>G)	.	.	0.999976083432424	0.924
18	55287885	T	G	18	57620653	y	y	splicing	NARS(NM_004539:exon3:c.11-2A>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon3:c.11-2A>C;ENST00000586807:exon3:c.11-2A>C;ENST00000540592:exon3:c.11-2A>C;ENST00000591599:exon3:c.11-2A>C;ENST00000587194:exon3:c.11-2A>C)	.	.	0.999976083432424	0.924
18	55287886	G	A	18	57620654	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00808964632238108	0.326
18	55287886	G	C	18	57620654	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.997291419514039	0.738
18	55287886	G	T	18	57620654	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.979590096595043	0.876
18	55287887	T	A	18	57620655	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00222057175344267	0.028
18	55287887	T	C	18	57620655	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.997519929137509	0.964
18	55287887	T	G	18	57620655	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.9848378614332E-4	0.014
18	55287888	T	A	18	57620656	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	3.67727601761038E-4	0.056
18	55287888	T	C	18	57620656	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.99959790193295	0.936
18	55287888	T	G	18	57620656	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.93506926639271E-4	0.052
18	55287889	T	A	18	57620657	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.37066808463699E-4	0.024
18	55287889	T	C	18	57620657	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.43540829340309E-4	0.046
18	55287889	T	G	18	57620657	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	4.53083378453247E-4	0.024
18	55287890	G	A	18	57620658	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.20556624969978E-5	0.018
18	55287890	G	C	18	57620658	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00632970578221106	0.126
18	55287890	G	T	18	57620658	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00348190329307341	0.078
18	55287891	A	C	18	57620659	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0094386556390927	0.34
18	55287891	A	G	18	57620659	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.12494364517483E-5	0.066
18	55287891	A	T	18	57620659	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00478395883709549	0.178
18	55287892	C	A	18	57620660	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.71148408388572E-5	0.008
18	55287892	C	G	18	57620660	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.71148408388572E-5	0.0
18	55287892	C	T	18	57620660	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.37224469896484E-4	0.004
18	55287893	A	C	18	57620661	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.405636101254319	0.672
18	55287893	A	G	18	57620661	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00257751934145867	0.048
18	55287893	A	T	18	57620661	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999946366843883	0.97
18	55287894	A	C	18	57620662	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.362590521373979	0.606
18	55287894	A	G	18	57620662	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00397413034822937	0.16
18	55287894	A	T	18	57620662	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.914586857352825	0.76
18	55287895	A	C	18	57620663	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.956171509914021	0.746
18	55287895	A	G	18	57620663	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0303209612208072	0.268
18	55287895	A	T	18	57620663	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.995364435028704	0.824
18	55288932	T	A	18	57621700	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.80702446536172E-4	0.01
18	55288932	T	C	18	57621700	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.07758789630927E-4	0.018
18	55288932	T	G	18	57621700	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.21599610917379E-5	0.0
18	55288933	C	A	18	57621701	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	2.97232704127758E-4	0.03
18	55288933	C	G	18	57621701	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.63972139651419E-5	0.0
18	55288933	C	T	18	57621701	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	1.6685089161517E-5	0.0
18	55288934	A	C	18	57621702	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.536448641232296	0.576
18	55288934	A	G	18	57621702	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0652421805584489	0.29
18	55288934	A	T	18	57621702	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.728616763516877	0.618
18	55288935	C	A	18	57621703	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999979043849442	0.99
18	55288935	C	G	18	57621703	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999947985932685	0.956
18	55288935	C	T	18	57621703	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.999946421332046	0.998
18	55288936	C	A	18	57621704	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.0040890314040658	0.078
18	55288936	C	G	18	57621704	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	5.05518842664923E-4	0.166
18	55288936	C	T	18	57621704	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	9.0955003739661E-4	0.098
18	55288937	C	A	18	57621705	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.976969575533652	0.838
18	55288937	C	G	18	57621705	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.998005114221028	0.872
18	55288937	C	T	18	57621705	y	y	intronic	NARS	.	.	intronic	ENSG00000134440	.	.	0.00483121223542425	0.09
18	55288938	A	C	18	57621706	y	y	splicing	NARS(NM_004539:exon2:c.10+2T>G)	.	.	splicing	ENSG00000134440(ENST00000256854:exon2:c.10+2T>G;ENST00000586807:exon2:c.10+2T>G;ENST00000540592:exon2:c.10+2T>G;ENST00000591599:exon2:c.10+2T>G;ENST00000587194:exon2:c.10+2T>G;ENST00000590123:exon2:c.10+2T>G)	.	.	0.999978952611685	0.916
18	55288938	A	G	18	57621706	y	y	splicing	NARS(NM_004539:exon2:c.10+2T>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon2:c.10+2T>C;ENST00000586807:exon2:c.10+2T>C;ENST00000540592:exon2:c.10+2T>C;ENST00000591599:exon2:c.10+2T>C;ENST00000587194:exon2:c.10+2T>C;ENST00000590123:exon2:c.10+2T>C)	.	.	0.999858366494836	0.86
18	55288938	A	T	18	57621706	y	y	splicing	NARS(NM_004539:exon2:c.10+2T>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon2:c.10+2T>A;ENST00000586807:exon2:c.10+2T>A;ENST00000540592:exon2:c.10+2T>A;ENST00000591599:exon2:c.10+2T>A;ENST00000587194:exon2:c.10+2T>A;ENST00000590123:exon2:c.10+2T>A)	.	.	0.999978952611685	0.918
18	55288939	C	A	18	57621707	y	y	splicing	NARS(NM_004539:exon2:c.10+1G>T)	.	.	splicing	ENSG00000134440(ENST00000256854:exon2:c.10+1G>T;ENST00000586807:exon2:c.10+1G>T;ENST00000540592:exon2:c.10+1G>T;ENST00000591599:exon2:c.10+1G>T;ENST00000587194:exon2:c.10+1G>T;ENST00000590123:exon2:c.10+1G>T)	.	.	0.999980428708689	0.924
18	55288939	C	G	18	57621707	y	y	splicing	NARS(NM_004539:exon2:c.10+1G>C)	.	.	splicing	ENSG00000134440(ENST00000256854:exon2:c.10+1G>C;ENST00000586807:exon2:c.10+1G>C;ENST00000540592:exon2:c.10+1G>C;ENST00000591599:exon2:c.10+1G>C;ENST00000587194:exon2:c.10+1G>C;ENST00000590123:exon2:c.10+1G>C)	.	.	0.999980428708689	0.918
18	55288939	C	T	18	57621707	y	y	splicing	NARS(NM_004539:exon2:c.10+1G>A)	.	.	splicing	ENSG00000134440(ENST00000256854:exon2:c.10+1G>A;ENST00000586807:exon2:c.10+1G>A;ENST00000540592:exon2:c.10+1G>A;ENST00000591599:exon2:c.10+1G>A;ENST00000587194:exon2:c.10+1G>A;ENST00000590123:exon2:c.10+1G>A)	.	.	0.999989072007339	0.924
18	55288940	C	A	18	57621708	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon1:c.G10T:p.A4S;	exonic	ENSG00000134440	stopgain SNV	ENSG00000134440:ENST00000590123:exon1:c.G10T:p.E4X;	0.999928826853837	0.978
18	55288940	C	G	18	57621708	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon1:c.G10C:p.A4P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon1:c.G10C:p.A4P;ENSG00000134440:ENST00000540592:exon1:c.G10C:p.A4P;ENSG00000134440:ENST00000591599:exon1:c.G10C:p.A4P;ENSG00000134440:ENST00000590123:exon1:c.G10C:p.E4Q;ENSG00000134440:ENST00000587194:exon1:c.G10C:p.A4P;ENSG00000134440:ENST00000256854:exon1:c.G10C:p.A4P;	0.999993432399887	0.996
18	55288940	C	T	18	57621708	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon1:c.G10A:p.A4T;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon1:c.G10A:p.A4T;ENSG00000134440:ENST00000540592:exon1:c.G10A:p.A4T;ENSG00000134440:ENST00000591599:exon1:c.G10A:p.A4T;ENSG00000134440:ENST00000590123:exon1:c.G10A:p.E4K;ENSG00000134440:ENST00000587194:exon1:c.G10A:p.A4T;ENSG00000134440:ENST00000256854:exon1:c.G10A:p.A4T;	0.999990851860959	0.998
18	55288941	T	A	18	57621709	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon1:c.A9T:p.L3L;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000586807:exon1:c.A9T:p.L3L;ENSG00000134440:ENST00000540592:exon1:c.A9T:p.L3L;ENSG00000134440:ENST00000591599:exon1:c.A9T:p.L3L;ENSG00000134440:ENST00000590123:exon1:c.A9T:p.L3L;ENSG00000134440:ENST00000587194:exon1:c.A9T:p.L3L;ENSG00000134440:ENST00000256854:exon1:c.A9T:p.L3L;	0.379175755827162	0.554
18	55288941	T	C	18	57621709	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon1:c.A9G:p.L3L;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000586807:exon1:c.A9G:p.L3L;ENSG00000134440:ENST00000540592:exon1:c.A9G:p.L3L;ENSG00000134440:ENST00000591599:exon1:c.A9G:p.L3L;ENSG00000134440:ENST00000590123:exon1:c.A9G:p.L3L;ENSG00000134440:ENST00000587194:exon1:c.A9G:p.L3L;ENSG00000134440:ENST00000256854:exon1:c.A9G:p.L3L;	0.916151968424433	0.542
18	55288941	T	G	18	57621709	y	y	exonic	NARS	synonymous SNV	NARS:NM_004539:exon1:c.A9C:p.L3L;	exonic	ENSG00000134440	synonymous SNV	ENSG00000134440:ENST00000586807:exon1:c.A9C:p.L3L;ENSG00000134440:ENST00000540592:exon1:c.A9C:p.L3L;ENSG00000134440:ENST00000591599:exon1:c.A9C:p.L3L;ENSG00000134440:ENST00000590123:exon1:c.A9C:p.L3L;ENSG00000134440:ENST00000587194:exon1:c.A9C:p.L3L;ENSG00000134440:ENST00000256854:exon1:c.A9C:p.L3L;	0.174891822359502	0.57
18	55288942	A	C	18	57621710	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon1:c.T8G:p.L3R;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon1:c.T8G:p.L3R;ENSG00000134440:ENST00000540592:exon1:c.T8G:p.L3R;ENSG00000134440:ENST00000591599:exon1:c.T8G:p.L3R;ENSG00000134440:ENST00000590123:exon1:c.T8G:p.L3R;ENSG00000134440:ENST00000587194:exon1:c.T8G:p.L3R;ENSG00000134440:ENST00000256854:exon1:c.T8G:p.L3R;	0.555736091487897	0.432
18	55288942	A	G	18	57621710	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon1:c.T8C:p.L3P;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon1:c.T8C:p.L3P;ENSG00000134440:ENST00000540592:exon1:c.T8C:p.L3P;ENSG00000134440:ENST00000591599:exon1:c.T8C:p.L3P;ENSG00000134440:ENST00000590123:exon1:c.T8C:p.L3P;ENSG00000134440:ENST00000587194:exon1:c.T8C:p.L3P;ENSG00000134440:ENST00000256854:exon1:c.T8C:p.L3P;	0.232116267081065	0.33
18	55288942	A	T	18	57621710	y	y	exonic	NARS	nonsynonymous SNV	NARS:NM_004539:exon1:c.T8A:p.L3Q;	exonic	ENSG00000134440	nonsynonymous SNV	ENSG00000134440:ENST00000586807:exon1:c.T8A:p.L3Q;ENSG00000134440:ENST00000540592:exon1:c.T8A:p.L3Q;ENSG00000134440:ENST00000591599:exon1:c.T8A:p.L3Q;ENSG00000134440:ENST00000590123:exon1:c.T8A:p.L3Q;ENSG00000134440:ENST00000587194:exon1:c.T8A:p.L3Q;ENSG00000134440:ENST00000256854:exon1:c.T8A:p.L3Q;	0.706135758096486	0.412
18	55288963	C	A	18	57621731	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	4.17825650598919E-5	0.0
18	55288963	C	G	18	57621731	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	4.17825650598919E-5	0.0
18	55288963	C	T	18	57621731	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	4.32865970446788E-5	0.0
18	55288964	T	A	18	57621732	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	5.15941453541388E-5	0.004
18	55288964	T	C	18	57621732	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	5.15941453541388E-5	0.004
18	55288964	T	G	18	57621732	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	5.15941453541388E-5	0.004
18	55288965	G	A	18	57621733	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	1.63826396113866E-4	0.11
18	55288965	G	C	18	57621733	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	1.63826396113866E-4	0.11
18	55288965	G	T	18	57621733	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	1.63826396113866E-4	0.11
18	55288966	G	A	18	57621734	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	4.32865970446788E-5	0.002
18	55288966	G	C	18	57621734	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	4.32865970446788E-5	0.0
18	55288966	G	T	18	57621734	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	4.32865970446788E-5	0.0
18	55288967	T	A	18	57621735	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	1.05918261028706E-4	0.0
18	55288967	T	C	18	57621735	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	3.9469183429777E-5	0.0
18	55288967	T	G	18	57621735	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	3.9469183429777E-5	0.0
18	55288968	C	A	18	57621736	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	4.59011002566824E-5	0.008
18	55288968	C	G	18	57621736	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	4.59011002566824E-5	0.008
18	55288968	C	T	18	57621736	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	3.80326084273412E-5	0.008
18	55288969	A	C	18	57621737	n	y	UTR5	NARS	.	.	splicing	ENSG00000134440	.	.	7.02941432165824E-4	0.004
18	55288969	A	G	18	57621737	n	y	UTR5	NARS	.	.	splicing	ENSG00000134440	.	.	0.0013078655870363	0.004
18	55288969	A	T	18	57621737	n	y	UTR5	NARS	.	.	splicing	ENSG00000134440	.	.	0.0012338591716885	0.022
18	55288970	C	A	18	57621738	n	y	UTR5	NARS	.	.	splicing	ENSG00000134440	.	.	0.00130370486927522	0.084
18	55288970	C	G	18	57621738	n	y	UTR5	NARS	.	.	splicing	ENSG00000134440	.	.	0.00128977914709843	0.078
18	55288970	C	T	18	57621738	n	y	UTR5	NARS	.	.	splicing	ENSG00000134440	.	.	0.00152877518060474	0.088
18	55288971	C	A	18	57621739	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	9.68632724264029E-5	0.0
18	55288971	C	G	18	57621739	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	9.68632724264029E-5	0.0
18	55288971	C	T	18	57621739	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	1.12708559664017E-4	0.008
18	55288972	T	A	18	57621740	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	0.0069856315932627	0.016
18	55288972	T	C	18	57621740	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	0.00473126442337914	0.014
18	55288972	T	G	18	57621740	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	0.00473126442337914	0.02
18	55288973	C	A	18	57621741	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	8.28677872108501E-4	0.008
18	55288973	C	G	18	57621741	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	8.19822057903476E-4	0.004
18	55288973	C	T	18	57621741	n	y	UTR5	NARS	.	.	UTR5	ENSG00000134440	.	.	9.71819796559124E-4	0.006
18	55315943	A	C	18	57648711	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon28:c.T3533G:p.I1178S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon27:c.T3533G:p.I1178S;ENSG00000081923:ENST00000536015:exon28:c.T3533G:p.I1178S;	0.250141872867916	0.422
18	55315943	A	G	18	57648711	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon28:c.T3533C:p.I1178T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon27:c.T3533C:p.I1178T;ENSG00000081923:ENST00000536015:exon28:c.T3533C:p.I1178T;	0.210822601799087	0.374
18	55315943	A	T	18	57648711	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon28:c.T3533A:p.I1178N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon27:c.T3533A:p.I1178N;ENSG00000081923:ENST00000536015:exon28:c.T3533A:p.I1178N;	0.212416276781673	0.394
18	55315944	T	A	18	57648712	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon28:c.A3532T:p.I1178F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon27:c.A3532T:p.I1178F;ENSG00000081923:ENST00000536015:exon28:c.A3532T:p.I1178F;	0.322685854456863	0.438
18	55315944	T	C	18	57648712	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon28:c.A3532G:p.I1178V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon27:c.A3532G:p.I1178V;ENSG00000081923:ENST00000536015:exon28:c.A3532G:p.I1178V;	5.21650313993461E-4	0.022
18	55315944	T	G	18	57648712	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon28:c.A3532C:p.I1178L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon27:c.A3532C:p.I1178L;ENSG00000081923:ENST00000536015:exon28:c.A3532C:p.I1178L;	0.0559830794647058	0.346
18	55315945	C	A	18	57648713	y	y	splicing	ATP8B1(NM_005603:exon29:c.3532-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon28:c.3532-1G>T;ENST00000536015:exon29:c.3532-1G>T)	.	.	0.999988247793601	0.936
18	55315945	C	G	18	57648713	y	y	splicing	ATP8B1(NM_005603:exon29:c.3532-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon28:c.3532-1G>C;ENST00000536015:exon29:c.3532-1G>C)	.	.	0.999988247793601	0.936
18	55315945	C	T	18	57648713	y	y	splicing	ATP8B1(NM_005603:exon29:c.3532-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon28:c.3532-1G>A;ENST00000536015:exon29:c.3532-1G>A)	.	.	0.999988247793601	0.936
18	55315946	T	A	18	57648714	y	y	splicing	ATP8B1(NM_005603:exon29:c.3532-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon28:c.3532-2A>T;ENST00000536015:exon29:c.3532-2A>T)	.	.	0.999993519952936	0.93
18	55315946	T	C	18	57648714	y	y	splicing	ATP8B1(NM_005603:exon29:c.3532-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon28:c.3532-2A>G;ENST00000536015:exon29:c.3532-2A>G)	.	.	0.999993519952936	0.928
18	55315946	T	G	18	57648714	y	y	splicing	ATP8B1(NM_005603:exon29:c.3532-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon28:c.3532-2A>C;ENST00000536015:exon29:c.3532-2A>C)	.	.	0.999993519952936	0.928
18	55315947	G	A	18	57648715	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.91308693600525E-4	0.15
18	55315947	G	C	18	57648715	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999718921597918	0.952
18	55315947	G	T	18	57648715	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.619597549143942	0.5
18	55315948	C	A	18	57648716	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.10990891336522E-4	0.0
18	55315948	C	G	18	57648716	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.83907944076911E-5	0.004
18	55315948	C	T	18	57648716	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.88431018091802E-5	0.0
18	55315949	A	C	18	57648717	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.26395996727341E-4	0.06
18	55315949	A	G	18	57648717	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.08970522537016E-5	0.004
18	55315949	A	T	18	57648717	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.9272635360424	0.736
18	55315950	A	C	18	57648718	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.37362087803376E-4	0.03
18	55315950	A	G	18	57648718	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.60830277341473E-5	0.008
18	55315950	A	T	18	57648718	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.60468904181838E-4	0.116
18	55315951	G	A	18	57648719	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.27608796813807E-5	0.0
18	55315951	G	C	18	57648719	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.79119798966048E-5	0.006
18	55315951	G	T	18	57648719	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.22128387952728E-4	0.034
18	55315952	G	A	18	57648720	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.4788078567541E-5	0.004
18	55315952	G	C	18	57648720	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.63280019158149E-5	0.03
18	55315952	G	T	18	57648720	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.79835616370511E-5	0.016
18	55315953	G	A	18	57648721	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.98042984522084E-5	0.0
18	55315953	G	C	18	57648721	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.05166790150604E-4	0.008
18	55315953	G	T	18	57648721	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.6362463936823E-4	0.08
18	55315954	G	A	18	57648722	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.07688716194225E-5	0.0
18	55315954	G	C	18	57648722	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.52835286320914E-5	0.018
18	55315954	G	T	18	57648722	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.7048518920834E-4	0.024
18	55315955	G	A	18	57648723	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.27548350319013E-5	0.0
18	55315955	G	C	18	57648723	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.85913611008363E-5	0.0
18	55315955	G	T	18	57648723	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.55313387490207E-4	0.058
18	55315956	A	C	18	57648724	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.34528924887665E-4	0.102
18	55315956	A	G	18	57648724	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.58598210701605E-5	0.0
18	55315956	A	T	18	57648724	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.48520708717552E-4	0.138
18	55317591	C	A	18	57650359	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.71864621046745E-4	0.016
18	55317591	C	G	18	57650359	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.00214082498625E-4	0.0
18	55317591	C	T	18	57650359	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.71864621046745E-4	0.012
18	55317592	T	A	18	57650360	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.21746474651031E-5	0.0
18	55317592	T	C	18	57650360	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.29559942598463E-5	0.0
18	55317592	T	G	18	57650360	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.18236271030151E-5	0.0
18	55317593	T	A	18	57650361	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.30718947637959E-5	0.016
18	55317593	T	C	18	57650361	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.4141613881532E-5	0.002
18	55317593	T	G	18	57650361	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.37949520088272E-4	0.032
18	55317594	T	A	18	57650362	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.05370120953369E-5	0.02
18	55317594	T	C	18	57650362	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.01701071705467E-5	0.014
18	55317594	T	G	18	57650362	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.56461254854903E-4	0.01
18	55317595	A	C	18	57650363	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.9086768563937E-5	0.012
18	55317595	A	G	18	57650363	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.72617098402431E-4	0.012
18	55317595	A	T	18	57650363	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.78445150234454E-4	0.108
18	55317596	T	A	18	57650364	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999965903800349	0.956
18	55317596	T	C	18	57650364	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999782420137028	0.92
18	55317596	T	G	18	57650364	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999929346484102	0.966
18	55317597	A	C	18	57650365	y	y	splicing	ATP8B1(NM_005603:exon28:c.3531+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3531+2T>G;ENST00000536015:exon28:c.3531+2T>G)	.	.	0.999988247793601	0.922
18	55317597	A	G	18	57650365	y	y	splicing	ATP8B1(NM_005603:exon28:c.3531+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3531+2T>C;ENST00000536015:exon28:c.3531+2T>C)	.	.	0.992066985189247	0.63
18	55317597	A	T	18	57650365	y	y	splicing	ATP8B1(NM_005603:exon28:c.3531+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3531+2T>A;ENST00000536015:exon28:c.3531+2T>A)	.	.	0.999988247793601	0.922
18	55317598	C	A	18	57650366	y	y	splicing	ATP8B1(NM_005603:exon28:c.3531+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3531+1G>T;ENST00000536015:exon28:c.3531+1G>T)	.	.	0.999986675681007	0.924
18	55317598	C	G	18	57650366	y	y	splicing	ATP8B1(NM_005603:exon28:c.3531+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3531+1G>C;ENST00000536015:exon28:c.3531+1G>C)	.	.	0.999986675681007	0.924
18	55317598	C	T	18	57650366	y	y	splicing	ATP8B1(NM_005603:exon28:c.3531+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3531+1G>A;ENST00000536015:exon28:c.3531+1G>A)	.	.	0.999986675681007	0.924
18	55317599	C	A	18	57650367	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.G3531T:p.K1177N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.G3531T:p.K1177N;ENSG00000081923:ENST00000536015:exon27:c.G3531T:p.K1177N;	0.999992581621154	0.96
18	55317599	C	G	18	57650367	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.G3531C:p.K1177N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.G3531C:p.K1177N;ENSG00000081923:ENST00000536015:exon27:c.G3531C:p.K1177N;	0.999997627706868	0.99
18	55317599	C	T	18	57650367	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon27:c.G3531A:p.K1177K;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.G3531A:p.K1177K;ENSG00000081923:ENST00000536015:exon27:c.G3531A:p.K1177K;	0.999991190146667	0.968
18	55317600	T	A	18	57650368	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.A3530T:p.K1177M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.A3530T:p.K1177M;ENSG00000081923:ENST00000536015:exon27:c.A3530T:p.K1177M;	0.999922717602055	0.986
18	55317600	T	C	18	57650368	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.A3530G:p.K1177R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.A3530G:p.K1177R;ENSG00000081923:ENST00000536015:exon27:c.A3530G:p.K1177R;	0.999321284359608	0.974
18	55317600	T	G	18	57650368	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.A3530C:p.K1177T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.A3530C:p.K1177T;ENSG00000081923:ENST00000536015:exon27:c.A3530C:p.K1177T;	0.999806698831866	1.0
18	55317601	T	A	18	57650369	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon27:c.A3529T:p.K1177X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon26:c.A3529T:p.K1177X;ENSG00000081923:ENST00000536015:exon27:c.A3529T:p.K1177X;	0.996373854563287	0.854
18	55317601	T	C	18	57650369	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.A3529G:p.K1177E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.A3529G:p.K1177E;ENSG00000081923:ENST00000536015:exon27:c.A3529G:p.K1177E;	0.333752870382104	0.392
18	55317601	T	G	18	57650369	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.A3529C:p.K1177Q;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.A3529C:p.K1177Q;ENSG00000081923:ENST00000536015:exon27:c.A3529C:p.K1177Q;	0.808812310192383	0.68
18	55317728	G	A	18	57650496	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon27:c.C3402T:p.G1134G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.C3402T:p.G1134G;ENSG00000081923:ENST00000536015:exon27:c.C3402T:p.G1134G;	1.12597051037439E-5	0.004
18	55317728	G	C	18	57650496	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon27:c.C3402G:p.G1134G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.C3402G:p.G1134G;ENSG00000081923:ENST00000536015:exon27:c.C3402G:p.G1134G;	1.6173854964071E-5	0.022
18	55317728	G	T	18	57650496	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon27:c.C3402A:p.G1134G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.C3402A:p.G1134G;ENSG00000081923:ENST00000536015:exon27:c.C3402A:p.G1134G;	6.38247890651348E-5	0.0
18	55317729	C	A	18	57650497	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.G3401T:p.G1134V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.G3401T:p.G1134V;ENSG00000081923:ENST00000536015:exon27:c.G3401T:p.G1134V;	0.999792212065273	0.99
18	55317729	C	G	18	57650497	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.G3401C:p.G1134A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.G3401C:p.G1134A;ENSG00000081923:ENST00000536015:exon27:c.G3401C:p.G1134A;	0.9995501890561	0.976
18	55317729	C	T	18	57650497	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon27:c.G3401A:p.G1134D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon26:c.G3401A:p.G1134D;ENSG00000081923:ENST00000536015:exon27:c.G3401A:p.G1134D;	0.999149019783758	0.824
18	55317730	C	A	18	57650498	y	y	splicing	ATP8B1(NM_005603:exon28:c.3401-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3401-1G>T;ENST00000536015:exon28:c.3401-1G>T)	.	.	0.999938990645747	0.93
18	55317730	C	G	18	57650498	y	y	splicing	ATP8B1(NM_005603:exon28:c.3401-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3401-1G>C;ENST00000536015:exon28:c.3401-1G>C)	.	.	0.999960200702261	0.928
18	55317730	C	T	18	57650498	y	y	splicing	ATP8B1(NM_005603:exon28:c.3401-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3401-1G>A;ENST00000536015:exon28:c.3401-1G>A)	.	.	0.999938990645747	0.93
18	55317731	T	A	18	57650499	y	y	splicing	ATP8B1(NM_005603:exon28:c.3401-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3401-2A>T;ENST00000536015:exon28:c.3401-2A>T)	.	.	0.999964896440643	0.934
18	55317731	T	C	18	57650499	y	y	splicing	ATP8B1(NM_005603:exon28:c.3401-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3401-2A>G;ENST00000536015:exon28:c.3401-2A>G)	.	.	0.999963671976247	0.932
18	55317731	T	G	18	57650499	y	y	splicing	ATP8B1(NM_005603:exon28:c.3401-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon27:c.3401-2A>C;ENST00000536015:exon28:c.3401-2A>C)	.	.	0.999963671976247	0.932
18	55317732	G	A	18	57650500	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0269736250476942	0.178
18	55317732	G	C	18	57650500	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999804007546623	0.878
18	55317732	G	T	18	57650500	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.847170343314289	0.504
18	55317733	T	A	18	57650501	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.51396136904425E-5	0.0
18	55317733	T	C	18	57650501	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.9137193110766E-5	0.0
18	55317733	T	G	18	57650501	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.57554961749391E-5	0.0
18	55317734	A	C	18	57650502	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.188365009510732	0.36
18	55317734	A	G	18	57650502	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.73745855429051E-4	0.03
18	55317734	A	T	18	57650502	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.434439906662078	0.392
18	55317735	A	C	18	57650503	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0210720074667592	0.168
18	55317735	A	G	18	57650503	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.12819124606138E-5	0.002
18	55317735	A	T	18	57650503	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0038228299806921	0.098
18	55317736	A	C	18	57650504	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0294117639926431	0.084
18	55317736	A	G	18	57650504	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.18386068733527E-4	0.072
18	55317736	A	T	18	57650504	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0111719065601716	0.09
18	55317737	G	A	18	57650505	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.25986686842642E-5	0.0
18	55317737	G	C	18	57650505	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.43569538798262E-4	0.022
18	55317737	G	T	18	57650505	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.65083832947794E-4	0.042
18	55317738	A	C	18	57650506	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.317104414423037	0.398
18	55317738	A	G	18	57650506	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.38618486917672E-4	0.032
18	55317738	A	T	18	57650506	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.410786743549495	0.464
18	55317739	A	C	18	57650507	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00859156603687823	0.174
18	55317739	A	G	18	57650507	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.07480383414601E-4	0.0
18	55317739	A	T	18	57650507	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0096166490477135	0.152
18	55317740	C	A	18	57650508	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.09508855236828E-4	0.0
18	55317740	C	G	18	57650508	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.23913721226413E-4	0.0
18	55317740	C	T	18	57650508	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.70694132776128E-5	0.0
18	55317741	A	C	18	57650509	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.982047936354999	0.89
18	55317741	A	G	18	57650509	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.43965143386254E-4	0.0
18	55317741	A	T	18	57650509	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99503897362592	0.904
18	55319258	A	C	18	57652026	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.83862683661519E-4	0.01
18	55319258	A	G	18	57652026	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.72891001531852E-4	0.01
18	55319258	A	T	18	57652026	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.92384947810874E-4	0.024
18	55319259	T	A	18	57652027	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.47062357115775E-4	0.018
18	55319259	T	C	18	57652027	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.22921698973706E-4	0.0
18	55319259	T	G	18	57652027	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.29405757193836E-5	0.0
18	55319260	A	C	18	57652028	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.957812794101487	0.77
18	55319260	A	G	18	57652028	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.973945144213665	0.792
18	55319260	A	T	18	57652028	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.976936005625607	0.716
18	55319261	C	A	18	57652029	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999977984120426	0.99
18	55319261	C	G	18	57652029	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999913484491541	0.992
18	55319261	C	T	18	57652029	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999542087024812	0.998
18	55319262	C	A	18	57652030	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.30069138773814E-4	0.076
18	55319262	C	G	18	57652030	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.86561791288258E-4	0.102
18	55319262	C	T	18	57652030	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.61787612186644E-4	0.114
18	55319263	A	C	18	57652031	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.21486902933247E-5	0.182
18	55319263	A	G	18	57652031	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00138360421414441	0.084
18	55319263	A	T	18	57652031	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.82220814015346E-4	0.052
18	55319264	A	C	18	57652032	y	y	splicing	ATP8B1(NM_005603:exon27:c.3400+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3400+2T>G;ENST00000536015:exon27:c.3400+2T>G)	.	.	0.999988247793601	0.93
18	55319264	A	G	18	57652032	y	y	splicing	ATP8B1(NM_005603:exon27:c.3400+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3400+2T>C;ENST00000536015:exon27:c.3400+2T>C)	.	.	0.99340600729494	0.682
18	55319264	A	T	18	57652032	y	y	splicing	ATP8B1(NM_005603:exon27:c.3400+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3400+2T>A;ENST00000536015:exon27:c.3400+2T>A)	.	.	0.999988247793601	0.93
18	55319265	C	A	18	57652033	y	y	splicing	ATP8B1(NM_005603:exon27:c.3400+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3400+1G>T;ENST00000536015:exon27:c.3400+1G>T)	.	.	0.999985532734767	0.938
18	55319265	C	G	18	57652033	y	y	splicing	ATP8B1(NM_005603:exon27:c.3400+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3400+1G>C;ENST00000536015:exon27:c.3400+1G>C)	.	.	0.999985532734767	0.938
18	55319265	C	T	18	57652033	y	y	splicing	ATP8B1(NM_005603:exon27:c.3400+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3400+1G>A;ENST00000536015:exon27:c.3400+1G>A)	.	.	0.999985532734767	0.938
18	55319266	C	A	18	57652034	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.G3400T:p.G1134C;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.G3400T:p.G1134C;ENSG00000081923:ENST00000536015:exon26:c.G3400T:p.G1134C;	0.99998873245523	1.0
18	55319266	C	G	18	57652034	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.G3400C:p.G1134R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.G3400C:p.G1134R;ENSG00000081923:ENST00000536015:exon26:c.G3400C:p.G1134R;	0.999997668522844	1.0
18	55319266	C	T	18	57652034	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.G3400A:p.G1134S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.G3400A:p.G1134S;ENSG00000081923:ENST00000536015:exon26:c.G3400A:p.G1134S;	0.999993095169196	1.0
18	55319267	T	A	18	57652035	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon26:c.A3399T:p.T1133T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.A3399T:p.T1133T;ENSG00000081923:ENST00000536015:exon26:c.A3399T:p.T1133T;	0.998948703898412	0.776
18	55319267	T	C	18	57652035	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon26:c.A3399G:p.T1133T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.A3399G:p.T1133T;ENSG00000081923:ENST00000536015:exon26:c.A3399G:p.T1133T;	0.995146930425965	0.762
18	55319267	T	G	18	57652035	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon26:c.A3399C:p.T1133T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.A3399C:p.T1133T;ENSG00000081923:ENST00000536015:exon26:c.A3399C:p.T1133T;	0.991258293721771	0.782
18	55319268	G	A	18	57652036	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.C3398T:p.T1133I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.C3398T:p.T1133I;ENSG00000081923:ENST00000536015:exon26:c.C3398T:p.T1133I;	0.999838174941442	0.98
18	55319268	G	C	18	57652036	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.C3398G:p.T1133R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.C3398G:p.T1133R;ENSG00000081923:ENST00000536015:exon26:c.C3398G:p.T1133R;	0.921460473204582	0.698
18	55319268	G	T	18	57652036	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.C3398A:p.T1133K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.C3398A:p.T1133K;ENSG00000081923:ENST00000536015:exon26:c.C3398A:p.T1133K;	0.948785670859182	0.796
18	55319403	A	C	18	57652171	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.T3263G:p.I1088S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.T3263G:p.I1088S;ENSG00000081923:ENST00000536015:exon26:c.T3263G:p.I1088S;	0.202162931402086	0.274
18	55319403	A	G	18	57652171	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.T3263C:p.I1088T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.T3263C:p.I1088T;ENSG00000081923:ENST00000536015:exon26:c.T3263C:p.I1088T;	0.195070409775257	0.32
18	55319403	A	T	18	57652171	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.T3263A:p.I1088N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.T3263A:p.I1088N;ENSG00000081923:ENST00000536015:exon26:c.T3263A:p.I1088N;	0.319628937016428	0.416
18	55319404	T	A	18	57652172	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.A3262T:p.I1088F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.A3262T:p.I1088F;ENSG00000081923:ENST00000536015:exon26:c.A3262T:p.I1088F;	0.353262280052793	0.442
18	55319404	T	C	18	57652172	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.A3262G:p.I1088V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.A3262G:p.I1088V;ENSG00000081923:ENST00000536015:exon26:c.A3262G:p.I1088V;	0.0165717667981337	0.156
18	55319404	T	G	18	57652172	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon26:c.A3262C:p.I1088L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon25:c.A3262C:p.I1088L;ENSG00000081923:ENST00000536015:exon26:c.A3262C:p.I1088L;	0.193730424372886	0.482
18	55319405	C	A	18	57652173	y	y	splicing	ATP8B1(NM_005603:exon27:c.3262-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3262-1G>T;ENST00000536015:exon27:c.3262-1G>T)	.	.	0.999986675681007	0.934
18	55319405	C	G	18	57652173	y	y	splicing	ATP8B1(NM_005603:exon27:c.3262-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3262-1G>C;ENST00000536015:exon27:c.3262-1G>C)	.	.	0.999986675681007	0.934
18	55319405	C	T	18	57652173	y	y	splicing	ATP8B1(NM_005603:exon27:c.3262-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3262-1G>A;ENST00000536015:exon27:c.3262-1G>A)	.	.	0.999986675681007	0.934
18	55319406	T	A	18	57652174	y	y	splicing	ATP8B1(NM_005603:exon27:c.3262-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3262-2A>T;ENST00000536015:exon27:c.3262-2A>T)	.	.	0.999988247793601	0.928
18	55319406	T	C	18	57652174	y	y	splicing	ATP8B1(NM_005603:exon27:c.3262-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3262-2A>G;ENST00000536015:exon27:c.3262-2A>G)	.	.	0.999988247793601	0.928
18	55319406	T	G	18	57652174	y	y	splicing	ATP8B1(NM_005603:exon27:c.3262-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon26:c.3262-2A>C;ENST00000536015:exon27:c.3262-2A>C)	.	.	0.999988247793601	0.928
18	55319407	G	A	18	57652175	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.975505594991029	0.34
18	55319407	G	C	18	57652175	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999944153643104	0.98
18	55319407	G	T	18	57652175	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999773434592242	0.984
18	55319408	T	A	18	57652176	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.016228536764166	0.162
18	55319408	T	C	18	57652176	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.939896458929744	0.554
18	55319408	T	G	18	57652176	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0101270057385794	0.096
18	55319409	T	A	18	57652177	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.43046611271737E-4	0.012
18	55319409	T	C	18	57652177	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.24172876642731E-4	0.018
18	55319409	T	G	18	57652177	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.94326741464915E-4	0.002
18	55319410	G	A	18	57652178	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.83767264965629E-4	0.028
18	55319410	G	C	18	57652178	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0200166593743698	0.334
18	55319410	G	T	18	57652178	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0491383252315532	0.368
18	55319411	G	A	18	57652179	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.66917741459292E-5	0.074
18	55319411	G	C	18	57652179	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0290882012372119	0.266
18	55319411	G	T	18	57652179	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0409771067629695	0.244
18	55319412	G	A	18	57652180	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.75919242246218E-4	0.01
18	55319412	G	C	18	57652180	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00328205472162255	0.118
18	55319412	G	T	18	57652180	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0015363575990864	0.09
18	55319413	A	C	18	57652181	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998428136322539	0.924
18	55319413	A	G	18	57652181	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.290016032627578	0.438
18	55319413	A	T	18	57652181	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999652843818054	0.884
18	55319414	A	C	18	57652182	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99727425304592	0.788
18	55319414	A	G	18	57652182	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.323924791298251	0.336
18	55319414	A	T	18	57652182	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998460515987987	0.876
18	55319415	A	C	18	57652183	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999374425113689	0.91
18	55319415	A	G	18	57652183	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.967135880246883	0.528
18	55319415	A	T	18	57652183	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999648178504681	0.948
18	55319416	C	A	18	57652184	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.73531556550032E-4	0.164
18	55319416	C	G	18	57652184	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.68502052087804E-4	0.196
18	55319416	C	T	18	57652184	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.52341906546061E-4	0.166
18	55319708	C	A	18	57652476	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.06987251808994E-5	0.0
18	55319708	C	G	18	57652476	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.06987251808994E-5	0.0
18	55319708	C	T	18	57652476	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.03395778519599E-5	0.002
18	55319709	C	A	18	57652477	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.18134738364291E-5	0.03
18	55319709	C	G	18	57652477	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.58211292617644E-5	0.016
18	55319709	C	T	18	57652477	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.58211292617644E-5	0.026
18	55319710	A	C	18	57652478	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.55532872827374E-5	0.14
18	55319710	A	G	18	57652478	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00100009180151465	0.25
18	55319710	A	T	18	57652478	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00113539880268439	0.166
18	55319711	C	A	18	57652479	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.10857532103788	0.208
18	55319711	C	G	18	57652479	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.179501479430097	0.272
18	55319711	C	T	18	57652479	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.139573027935529	0.198
18	55319712	G	A	18	57652480	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.39882202516662E-5	0.078
18	55319712	G	C	18	57652480	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.00689616235111E-4	0.154
18	55319712	G	T	18	57652480	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.29946773838651E-5	0.056
18	55319713	T	A	18	57652481	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.649493593593566	0.564
18	55319713	T	C	18	57652481	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00363231256717702	0.086
18	55319713	T	G	18	57652481	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.965658062884226	0.682
18	55319714	A	C	18	57652482	y	y	splicing	ATP8B1(NM_005603:exon26:c.3261+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3261+2T>G;ENST00000536015:exon26:c.3261+2T>G)	.	.	0.99994568797423	0.932
18	55319714	A	G	18	57652482	y	y	splicing	ATP8B1(NM_005603:exon26:c.3261+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3261+2T>C;ENST00000536015:exon26:c.3261+2T>C)	.	.	0.980438118074251	0.68
18	55319714	A	T	18	57652482	y	y	splicing	ATP8B1(NM_005603:exon26:c.3261+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3261+2T>A;ENST00000536015:exon26:c.3261+2T>A)	.	.	0.99994568797423	0.928
18	55319715	C	A	18	57652483	y	y	splicing	ATP8B1(NM_005603:exon26:c.3261+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3261+1G>T;ENST00000536015:exon26:c.3261+1G>T)	.	.	0.999989072007339	0.934
18	55319715	C	G	18	57652483	y	y	splicing	ATP8B1(NM_005603:exon26:c.3261+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3261+1G>C;ENST00000536015:exon26:c.3261+1G>C)	.	.	0.999989072007339	0.934
18	55319715	C	T	18	57652483	y	y	splicing	ATP8B1(NM_005603:exon26:c.3261+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3261+1G>A;ENST00000536015:exon26:c.3261+1G>A)	.	.	0.999989072007339	0.934
18	55319716	C	A	18	57652484	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.G3261T:p.Q1087H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.G3261T:p.Q1087H;ENSG00000081923:ENST00000536015:exon25:c.G3261T:p.Q1087H;	0.999983002167783	0.982
18	55319716	C	G	18	57652484	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.G3261C:p.Q1087H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.G3261C:p.Q1087H;ENSG00000081923:ENST00000536015:exon25:c.G3261C:p.Q1087H;	0.999984626122676	0.956
18	55319716	C	T	18	57652484	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon25:c.G3261A:p.Q1087Q;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.G3261A:p.Q1087Q;ENSG00000081923:ENST00000536015:exon25:c.G3261A:p.Q1087Q;	0.994652282920363	0.762
18	55319717	T	A	18	57652485	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.A3260T:p.Q1087L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.A3260T:p.Q1087L;ENSG00000081923:ENST00000536015:exon25:c.A3260T:p.Q1087L;	0.999029450777341	0.902
18	55319717	T	C	18	57652485	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.A3260G:p.Q1087R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.A3260G:p.Q1087R;ENSG00000081923:ENST00000536015:exon25:c.A3260G:p.Q1087R;	0.994625184339422	0.902
18	55319717	T	G	18	57652485	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.A3260C:p.Q1087P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.A3260C:p.Q1087P;ENSG00000081923:ENST00000536015:exon25:c.A3260C:p.Q1087P;	0.992302567358572	0.902
18	55319718	G	A	18	57652486	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon25:c.C3259T:p.Q1087X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon24:c.C3259T:p.Q1087X;ENSG00000081923:ENST00000536015:exon25:c.C3259T:p.Q1087X;	0.998496077505971	0.834
18	55319718	G	C	18	57652486	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.C3259G:p.Q1087E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.C3259G:p.Q1087E;ENSG00000081923:ENST00000536015:exon25:c.C3259G:p.Q1087E;	0.920757751776038	0.632
18	55319718	G	T	18	57652486	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.C3259A:p.Q1087K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.C3259A:p.Q1087K;ENSG00000081923:ENST00000536015:exon25:c.C3259A:p.Q1087K;	0.949610382594859	0.812
18	55319960	T	A	18	57652728	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.A3017T:p.D1006V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.A3017T:p.D1006V;ENSG00000081923:ENST00000536015:exon25:c.A3017T:p.D1006V;	0.877030735521591	0.696
18	55319960	T	C	18	57652728	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.A3017G:p.D1006G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.A3017G:p.D1006G;ENSG00000081923:ENST00000536015:exon25:c.A3017G:p.D1006G;	0.829354404457111	0.482
18	55319960	T	G	18	57652728	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.A3017C:p.D1006A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.A3017C:p.D1006A;ENSG00000081923:ENST00000536015:exon25:c.A3017C:p.D1006A;	0.896724736070406	0.722
18	55319961	C	A	18	57652729	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.G3016T:p.D1006Y;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.G3016T:p.D1006Y;ENSG00000081923:ENST00000536015:exon25:c.G3016T:p.D1006Y;	0.999869675937539	0.978
18	55319961	C	G	18	57652729	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.G3016C:p.D1006H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.G3016C:p.D1006H;ENSG00000081923:ENST00000536015:exon25:c.G3016C:p.D1006H;	0.999864804251412	0.942
18	55319961	C	T	18	57652729	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon25:c.G3016A:p.D1006N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon24:c.G3016A:p.D1006N;ENSG00000081923:ENST00000536015:exon25:c.G3016A:p.D1006N;	0.996655945148912	0.912
18	55319962	C	A	18	57652730	y	y	splicing	ATP8B1(NM_005603:exon26:c.3016-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3016-1G>T;ENST00000536015:exon26:c.3016-1G>T)	.	.	0.999989072007339	0.932
18	55319962	C	G	18	57652730	y	y	splicing	ATP8B1(NM_005603:exon26:c.3016-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3016-1G>C;ENST00000536015:exon26:c.3016-1G>C)	.	.	0.999989072007339	0.932
18	55319962	C	T	18	57652730	y	y	splicing	ATP8B1(NM_005603:exon26:c.3016-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3016-1G>A;ENST00000536015:exon26:c.3016-1G>A)	.	.	0.999989072007339	0.932
18	55319963	T	A	18	57652731	y	y	splicing	ATP8B1(NM_005603:exon26:c.3016-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3016-2A>T;ENST00000536015:exon26:c.3016-2A>T)	.	.	0.999988247793601	0.928
18	55319963	T	C	18	57652731	y	y	splicing	ATP8B1(NM_005603:exon26:c.3016-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3016-2A>G;ENST00000536015:exon26:c.3016-2A>G)	.	.	0.999988247793601	0.928
18	55319963	T	G	18	57652731	y	y	splicing	ATP8B1(NM_005603:exon26:c.3016-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon25:c.3016-2A>C;ENST00000536015:exon26:c.3016-2A>C)	.	.	0.999988247793601	0.928
18	55319964	T	A	18	57652732	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.19928523259404E-4	0.016
18	55319964	T	C	18	57652732	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0414149970200723	0.274
18	55319964	T	G	18	57652732	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.58836620004455E-4	0.1
18	55319965	A	C	18	57652733	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.58256714010335E-5	0.008
18	55319965	A	G	18	57652733	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.99149632280837E-5	0.046
18	55319965	A	T	18	57652733	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.36180526147235E-5	0.024
18	55319966	A	C	18	57652734	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00837649014704621	0.254
18	55319966	A	G	18	57652734	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.91873977299745E-5	0.014
18	55319966	A	T	18	57652734	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00151556842874061	0.19
18	55319967	G	A	18	57652735	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.11892150070521E-5	0.002
18	55319967	G	C	18	57652735	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.48894986469896E-4	0.01
18	55319967	G	T	18	57652735	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.21585589355015E-4	0.008
18	55319968	G	A	18	57652736	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.45879190429872E-4	0.052
18	55319968	G	C	18	57652736	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00175393845425645	0.282
18	55319968	G	T	18	57652736	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00129756136889788	0.25
18	55319969	A	C	18	57652737	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.01872082879813E-5	0.046
18	55319969	A	G	18	57652737	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.75611915806228E-6	0.008
18	55319969	A	T	18	57652737	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.21975651924025E-5	0.058
18	55319970	G	A	18	57652738	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.23279447236286E-5	0.002
18	55319970	G	C	18	57652738	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.73907346923598E-5	0.004
18	55319970	G	T	18	57652738	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.79985804349284E-5	0.012
18	55319971	A	C	18	57652739	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.50663924715423E-4	0.052
18	55319971	A	G	18	57652739	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.7326063910838E-5	0.0
18	55319971	A	T	18	57652739	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.57247608125113E-4	0.06
18	55319972	A	C	18	57652740	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00982866243400171	0.3
18	55319972	A	G	18	57652740	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00361790637293282	0.086
18	55319972	A	T	18	57652740	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0214667004451498	0.32
18	55319973	A	C	18	57652741	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.17984685564765E-5	0.034
18	55319973	A	G	18	57652741	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.69064180125159E-5	0.0
18	55319973	A	T	18	57652741	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.61066835159455E-5	0.016
18	55321216	G	A	18	57653984	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.0384329320122E-4	0.024
18	55321216	G	C	18	57653984	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.66916463534022E-4	0.014
18	55321216	G	T	18	57653984	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.66916463534022E-4	0.006
18	55321217	C	A	18	57653985	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.10024902907377E-4	0.002
18	55321217	C	G	18	57653985	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.90604663467127E-4	0.03
18	55321217	C	T	18	57653985	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.90604663467127E-4	0.018
18	55321218	T	A	18	57653986	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.12712714709119E-5	0.098
18	55321218	T	C	18	57653986	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.42399640722637E-5	0.088
18	55321218	T	G	18	57653986	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.54892875630348E-5	0.078
18	55321219	C	A	18	57653987	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99993935686307	0.852
18	55321219	C	G	18	57653987	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999424687837816	0.836
18	55321219	C	T	18	57653987	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.995802584822565	0.718
18	55321220	C	A	18	57653988	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.67270500863823E-4	0.054
18	55321220	C	G	18	57653988	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.91623605645667E-4	0.102
18	55321220	C	T	18	57653988	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.00205750347318E-4	0.05
18	55321221	T	A	18	57653989	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.991329885427622	0.81
18	55321221	T	C	18	57653989	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.508231380788607	0.614
18	55321221	T	G	18	57653989	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.989436076962414	0.756
18	55321222	A	C	18	57653990	y	y	splicing	ATP8B1(NM_005603:exon25:c.3015+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.3015+2T>G;ENST00000536015:exon25:c.3015+2T>G)	.	.	0.999988247793601	0.932
18	55321222	A	G	18	57653990	y	y	splicing	ATP8B1(NM_005603:exon25:c.3015+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.3015+2T>C;ENST00000536015:exon25:c.3015+2T>C)	.	.	0.99340600729494	0.706
18	55321222	A	T	18	57653990	y	y	splicing	ATP8B1(NM_005603:exon25:c.3015+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.3015+2T>A;ENST00000536015:exon25:c.3015+2T>A)	.	.	0.999988247793601	0.932
18	55321223	C	A	18	57653991	y	y	splicing	ATP8B1(NM_005603:exon25:c.3015+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.3015+1G>T;ENST00000536015:exon25:c.3015+1G>T)	.	.	0.999990361384395	0.938
18	55321223	C	G	18	57653991	y	y	splicing	ATP8B1(NM_005603:exon25:c.3015+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.3015+1G>C;ENST00000536015:exon25:c.3015+1G>C)	.	.	0.999990361384395	0.938
18	55321223	C	T	18	57653991	y	y	splicing	ATP8B1(NM_005603:exon25:c.3015+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.3015+1G>A;ENST00000536015:exon25:c.3015+1G>A)	.	.	0.999990361384395	0.938
18	55321224	C	A	18	57653992	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.G3015T:p.Q1005H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.G3015T:p.Q1005H;ENSG00000081923:ENST00000536015:exon24:c.G3015T:p.Q1005H;	0.999993115420539	1.0
18	55321224	C	G	18	57653992	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.G3015C:p.Q1005H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.G3015C:p.Q1005H;ENSG00000081923:ENST00000536015:exon24:c.G3015C:p.Q1005H;	0.999997387511283	0.994
18	55321224	C	T	18	57653992	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon24:c.G3015A:p.Q1005Q;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.G3015A:p.Q1005Q;ENSG00000081923:ENST00000536015:exon24:c.G3015A:p.Q1005Q;	0.99993016294305	0.996
18	55321225	T	A	18	57653993	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.A3014T:p.Q1005L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.A3014T:p.Q1005L;ENSG00000081923:ENST00000536015:exon24:c.A3014T:p.Q1005L;	0.999847715513479	0.994
18	55321225	T	C	18	57653993	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.A3014G:p.Q1005R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.A3014G:p.Q1005R;ENSG00000081923:ENST00000536015:exon24:c.A3014G:p.Q1005R;	0.99977996597622	0.994
18	55321225	T	G	18	57653993	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.A3014C:p.Q1005P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.A3014C:p.Q1005P;ENSG00000081923:ENST00000536015:exon24:c.A3014C:p.Q1005P;	0.99951614537257	0.994
18	55321226	G	A	18	57653994	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon24:c.C3013T:p.Q1005X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon23:c.C3013T:p.Q1005X;ENSG00000081923:ENST00000536015:exon24:c.C3013T:p.Q1005X;	0.999540504540815	0.948
18	55321226	G	C	18	57653994	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.C3013G:p.Q1005E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.C3013G:p.Q1005E;ENSG00000081923:ENST00000536015:exon24:c.C3013G:p.Q1005E;	0.943444128897869	0.698
18	55321226	G	T	18	57653994	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.C3013A:p.Q1005K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.C3013A:p.Q1005K;ENSG00000081923:ENST00000536015:exon24:c.C3013A:p.Q1005K;	0.966091263731104	0.844
18	55321306	G	A	18	57654074	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.C2933T:p.T978I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.C2933T:p.T978I;ENSG00000081923:ENST00000536015:exon24:c.C2933T:p.T978I;	0.978662813274622	0.754
18	55321306	G	C	18	57654074	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.C2933G:p.T978S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.C2933G:p.T978S;ENSG00000081923:ENST00000536015:exon24:c.C2933G:p.T978S;	0.98622466677274	0.706
18	55321306	G	T	18	57654074	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.C2933A:p.T978N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.C2933A:p.T978N;ENSG00000081923:ENST00000536015:exon24:c.C2933A:p.T978N;	0.99455331839521	0.868
18	55321307	T	A	18	57654075	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.A2932T:p.T978S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.A2932T:p.T978S;ENSG00000081923:ENST00000536015:exon24:c.A2932T:p.T978S;	0.749050464760755	0.506
18	55321307	T	C	18	57654075	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.A2932G:p.T978A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.A2932G:p.T978A;ENSG00000081923:ENST00000536015:exon24:c.A2932G:p.T978A;	0.266769518618698	0.362
18	55321307	T	G	18	57654075	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon24:c.A2932C:p.T978P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon23:c.A2932C:p.T978P;ENSG00000081923:ENST00000536015:exon24:c.A2932C:p.T978P;	0.152025564386612	0.226
18	55321308	C	A	18	57654076	y	y	splicing	ATP8B1(NM_005603:exon25:c.2932-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.2932-1G>T;ENST00000536015:exon25:c.2932-1G>T)	.	.	0.999990361384395	0.938
18	55321308	C	G	18	57654076	y	y	splicing	ATP8B1(NM_005603:exon25:c.2932-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.2932-1G>C;ENST00000536015:exon25:c.2932-1G>C)	.	.	0.999990361384395	0.938
18	55321308	C	T	18	57654076	y	y	splicing	ATP8B1(NM_005603:exon25:c.2932-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.2932-1G>A;ENST00000536015:exon25:c.2932-1G>A)	.	.	0.999990361384395	0.938
18	55321309	T	A	18	57654077	y	y	splicing	ATP8B1(NM_005603:exon25:c.2932-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.2932-2A>T;ENST00000536015:exon25:c.2932-2A>T)	.	.	0.999988247793601	0.932
18	55321309	T	C	18	57654077	y	y	splicing	ATP8B1(NM_005603:exon25:c.2932-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.2932-2A>G;ENST00000536015:exon25:c.2932-2A>G)	.	.	0.999988247793601	0.932
18	55321309	T	G	18	57654077	y	y	splicing	ATP8B1(NM_005603:exon25:c.2932-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon24:c.2932-2A>C;ENST00000536015:exon25:c.2932-2A>C)	.	.	0.999988247793601	0.932
18	55321310	G	A	18	57654078	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00428820133091729	0.068
18	55321310	G	C	18	57654078	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99993760772565	0.976
18	55321310	G	T	18	57654078	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.994103601855632	0.884
18	55321311	T	A	18	57654079	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.65728627280168E-4	0.018
18	55321311	T	C	18	57654079	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.00370844088619E-5	0.16
18	55321311	T	G	18	57654079	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.82422550548335E-5	0.088
18	55321312	G	A	18	57654080	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.24694615722356E-4	0.002
18	55321312	G	C	18	57654080	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00409996747721082	0.106
18	55321312	G	T	18	57654080	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0064258474763852	0.104
18	55321313	A	C	18	57654081	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00224135622248851	0.168
18	55321313	A	G	18	57654081	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.18537986600097E-5	0.012
18	55321313	A	T	18	57654081	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.29904007529756E-4	0.1
18	55321314	G	A	18	57654082	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.62539118251951E-4	0.014
18	55321314	G	C	18	57654082	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0194161383160217	0.138
18	55321314	G	T	18	57654082	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0192180281771101	0.146
18	55321315	G	A	18	57654083	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.13937283935591E-4	0.054
18	55321315	G	C	18	57654083	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00396874167119541	0.06
18	55321315	G	T	18	57654083	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00267012457238169	0.062
18	55321316	G	A	18	57654084	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.01250387044399E-5	0.0
18	55321316	G	C	18	57654084	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.57817395469471E-4	0.068
18	55321316	G	T	18	57654084	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.18567644757759E-4	0.054
18	55321317	G	A	18	57654085	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.63477745239631E-5	0.006
18	55321317	G	C	18	57654085	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.58564894273721E-4	0.056
18	55321317	G	T	18	57654085	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.22384047721697E-4	0.05
18	55321318	A	C	18	57654086	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999348342181278	0.952
18	55321318	A	G	18	57654086	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.71118802862294E-4	0.014
18	55321318	A	T	18	57654086	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0309550194651006	0.258
18	55321319	T	A	18	57654087	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.250243698046E-5	0.0
18	55321319	T	C	18	57654087	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.84808315989449E-5	0.042
18	55321319	T	G	18	57654087	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.79006486786601E-6	0.002
18	55322418	T	A	18	57655186	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.67354446447581E-4	0.008
18	55322418	T	C	18	57655186	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.34966574763505E-4	0.0
18	55322418	T	G	18	57655186	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.63498936347382E-4	0.028
18	55322419	A	C	18	57655187	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.23990983271071E-5	0.0
18	55322419	A	G	18	57655187	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.27923422929502E-5	0.002
18	55322419	A	T	18	57655187	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.41691284278849E-5	0.0
18	55322420	C	A	18	57655188	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.1408396520124E-5	0.01
18	55322420	C	G	18	57655188	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.78452918050559E-4	0.022
18	55322420	C	T	18	57655188	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.25973525683542E-5	0.004
18	55322421	A	C	18	57655189	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.4105784148729E-5	0.014
18	55322421	A	G	18	57655189	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.05061845556496E-5	0.002
18	55322421	A	T	18	57655189	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.91438307128723E-5	0.006
18	55322422	T	A	18	57655190	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.961125338022989	0.7
18	55322422	T	C	18	57655190	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.97213587593695	0.768
18	55322422	T	G	18	57655190	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.291825501248535	0.434
18	55322423	T	A	18	57655191	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999714384990065	0.934
18	55322423	T	C	18	57655191	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.978553908083078	0.82
18	55322423	T	G	18	57655191	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999684911425964	0.948
18	55322424	A	C	18	57655192	y	y	splicing	ATP8B1(NM_005603:exon24:c.2931+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2931+2T>G;ENST00000536015:exon24:c.2931+2T>G)	.	.	0.999988247793601	0.95
18	55322424	A	G	18	57655192	y	y	splicing	ATP8B1(NM_005603:exon24:c.2931+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2931+2T>C;ENST00000536015:exon24:c.2931+2T>C)	.	.	0.995320650369382	0.704
18	55322424	A	T	18	57655192	y	y	splicing	ATP8B1(NM_005603:exon24:c.2931+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2931+2T>A;ENST00000536015:exon24:c.2931+2T>A)	.	.	0.999988247793601	0.95
18	55322425	C	A	18	57655193	y	y	splicing	ATP8B1(NM_005603:exon24:c.2931+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2931+1G>T;ENST00000536015:exon24:c.2931+1G>T)	.	.	0.999990361384395	0.948
18	55322425	C	G	18	57655193	y	y	splicing	ATP8B1(NM_005603:exon24:c.2931+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2931+1G>C;ENST00000536015:exon24:c.2931+1G>C)	.	.	0.999990361384395	0.948
18	55322425	C	T	18	57655193	y	y	splicing	ATP8B1(NM_005603:exon24:c.2931+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2931+1G>A;ENST00000536015:exon24:c.2931+1G>A)	.	.	0.999990361384395	0.948
18	55322426	C	A	18	57655194	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.G2931T:p.Q977H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.G2931T:p.Q977H;ENSG00000081923:ENST00000536015:exon23:c.G2931T:p.Q977H;	0.999993018555097	1.0
18	55322426	C	G	18	57655194	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.G2931C:p.Q977H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.G2931C:p.Q977H;ENSG00000081923:ENST00000536015:exon23:c.G2931C:p.Q977H;	0.999997467131986	1.0
18	55322426	C	T	18	57655194	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon23:c.G2931A:p.Q977Q;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.G2931A:p.Q977Q;ENSG00000081923:ENST00000536015:exon23:c.G2931A:p.Q977Q;	0.999979952104076	1.0
18	55322427	T	A	18	57655195	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.A2930T:p.Q977L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.A2930T:p.Q977L;ENSG00000081923:ENST00000536015:exon23:c.A2930T:p.Q977L;	0.999898039763159	1.0
18	55322427	T	C	18	57655195	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.A2930G:p.Q977R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.A2930G:p.Q977R;ENSG00000081923:ENST00000536015:exon23:c.A2930G:p.Q977R;	0.999900806968388	0.998
18	55322427	T	G	18	57655195	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.A2930C:p.Q977P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.A2930C:p.Q977P;ENSG00000081923:ENST00000536015:exon23:c.A2930C:p.Q977P;	0.999802895078651	0.996
18	55322428	G	A	18	57655196	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon23:c.C2929T:p.Q977X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon22:c.C2929T:p.Q977X;ENSG00000081923:ENST00000536015:exon23:c.C2929T:p.Q977X;	0.999811977147526	0.962
18	55322428	G	C	18	57655196	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.C2929G:p.Q977E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.C2929G:p.Q977E;ENSG00000081923:ENST00000536015:exon23:c.C2929G:p.Q977E;	0.984001026211057	0.654
18	55322428	G	T	18	57655196	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.C2929A:p.Q977K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.C2929A:p.Q977K;ENSG00000081923:ENST00000536015:exon23:c.C2929A:p.Q977K;	0.980609765236548	0.76
18	55322648	A	C	18	57655416	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon23:c.T2709G:p.T903T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.T2709G:p.T903T;ENSG00000081923:ENST00000536015:exon23:c.T2709G:p.T903T;	0.00394425280850043	0.126
18	55322648	A	G	18	57655416	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon23:c.T2709C:p.T903T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.T2709C:p.T903T;ENSG00000081923:ENST00000536015:exon23:c.T2709C:p.T903T;	0.001882024840998	0.156
18	55322648	A	T	18	57655416	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon23:c.T2709A:p.T903T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.T2709A:p.T903T;ENSG00000081923:ENST00000536015:exon23:c.T2709A:p.T903T;	0.00148355248003521	0.168
18	55322649	G	A	18	57655417	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.C2708T:p.T903I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.C2708T:p.T903I;ENSG00000081923:ENST00000536015:exon23:c.C2708T:p.T903I;	0.995318146962188	0.934
18	55322649	G	C	18	57655417	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.C2708G:p.T903S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.C2708G:p.T903S;ENSG00000081923:ENST00000536015:exon23:c.C2708G:p.T903S;	0.965274009474981	0.608
18	55322649	G	T	18	57655417	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon23:c.C2708A:p.T903N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon22:c.C2708A:p.T903N;ENSG00000081923:ENST00000536015:exon23:c.C2708A:p.T903N;	0.957188392539152	0.798
18	55322650	C	A	18	57655418	y	y	splicing	ATP8B1(NM_005603:exon24:c.2708-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2708-1G>T;ENST00000536015:exon24:c.2708-1G>T)	.	.	0.999989072007339	0.934
18	55322650	C	G	18	57655418	y	y	splicing	ATP8B1(NM_005603:exon24:c.2708-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2708-1G>C;ENST00000536015:exon24:c.2708-1G>C)	.	.	0.999989072007339	0.934
18	55322650	C	T	18	57655418	y	y	splicing	ATP8B1(NM_005603:exon24:c.2708-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2708-1G>A;ENST00000536015:exon24:c.2708-1G>A)	.	.	0.999989072007339	0.922
18	55322651	T	A	18	57655419	y	y	splicing	ATP8B1(NM_005603:exon24:c.2708-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2708-2A>T;ENST00000536015:exon24:c.2708-2A>T)	.	.	0.999978952611685	0.928
18	55322651	T	C	18	57655419	y	y	splicing	ATP8B1(NM_005603:exon24:c.2708-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2708-2A>G;ENST00000536015:exon24:c.2708-2A>G)	.	.	0.99994568797423	0.926
18	55322651	T	G	18	57655419	y	y	splicing	ATP8B1(NM_005603:exon24:c.2708-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon23:c.2708-2A>C;ENST00000536015:exon24:c.2708-2A>C)	.	.	0.999970661931818	0.926
18	55322652	A	C	18	57655420	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.895450727728096	0.728
18	55322652	A	G	18	57655420	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.70909377491504E-5	0.004
18	55322652	A	T	18	57655420	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00387805736381553	0.26
18	55322653	T	A	18	57655421	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.63770266007212E-4	0.01
18	55322653	T	C	18	57655421	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.95262780441973E-4	0.144
18	55322653	T	G	18	57655421	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.08780519679652E-4	0.152
18	55322654	G	A	18	57655422	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.49375384539763E-5	0.0
18	55322654	G	C	18	57655422	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.10376040827182E-4	0.038
18	55322654	G	T	18	57655422	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.54954174210191E-4	0.05
18	55322655	G	A	18	57655423	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.30655791407799E-4	0.014
18	55322655	G	C	18	57655423	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0816225079360545	0.18
18	55322655	G	T	18	57655423	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00484904292893977	0.11
18	55322656	G	A	18	57655424	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.46192224936151E-5	0.002
18	55322656	G	C	18	57655424	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00429171090775527	0.066
18	55322656	G	T	18	57655424	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0138150766547266	0.082
18	55322657	G	A	18	57655425	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.0966063683065E-5	0.0
18	55322657	G	C	18	57655425	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00192700619271304	0.03
18	55322657	G	T	18	57655425	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.34547141994188E-4	0.028
18	55322658	C	A	18	57655426	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.64943955454005E-5	0.0
18	55322658	C	G	18	57655426	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.81635039426089E-5	0.0
18	55322658	C	T	18	57655426	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.82007476636482E-4	0.006
18	55322659	A	C	18	57655427	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00384894969966607	0.084
18	55322659	A	G	18	57655427	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.56814436438687E-4	0.038
18	55322659	A	T	18	57655427	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998807248901262	0.934
18	55322660	G	A	18	57655428	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.03632557492857E-4	0.018
18	55322660	G	C	18	57655428	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.11659261011085E-4	0.1
18	55322660	G	T	18	57655428	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00178973328060848	0.068
18	55322661	A	C	18	57655429	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0802668864491371	0.384
18	55322661	A	G	18	57655429	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00280538871747913	0.094
18	55322661	A	T	18	57655429	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.149962205308877	0.404
18	55328398	T	A	18	57661166	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.24236979434921E-5	0.0
18	55328398	T	C	18	57661166	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.59301401825161E-5	0.0
18	55328398	T	G	18	57661166	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.09983635597947E-5	0.0
18	55328399	G	A	18	57661167	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.46570444364004E-4	0.02
18	55328399	G	C	18	57661167	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.90706899739996E-5	0.016
18	55328399	G	T	18	57661167	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.49860533689402E-5	0.016
18	55328400	A	C	18	57661168	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.923694345611876	0.722
18	55328400	A	G	18	57661168	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.915991164155601	0.564
18	55328400	A	T	18	57661168	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.958545682340934	0.71
18	55328401	C	A	18	57661169	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999961875422221	0.986
18	55328401	C	G	18	57661169	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999936414465847	0.98
18	55328401	C	T	18	57661169	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999959654852052	0.992
18	55328402	T	A	18	57661170	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998925394480271	0.956
18	55328402	T	C	18	57661170	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.997741420987038	0.992
18	55328402	T	G	18	57661170	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99784339141205	0.936
18	55328403	C	A	18	57661171	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.991902772084589	0.722
18	55328403	C	G	18	57661171	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999080346573427	0.778
18	55328403	C	T	18	57661171	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.58207560967554E-4	0.02
18	55328404	A	C	18	57661172	y	y	splicing	ATP8B1(NM_005603:exon23:c.2707+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2707+2T>G;ENST00000536015:exon23:c.2707+2T>G)	.	.	0.999988247793601	0.93
18	55328404	A	G	18	57661172	y	y	splicing	ATP8B1(NM_005603:exon23:c.2707+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2707+2T>C;ENST00000536015:exon23:c.2707+2T>C)	.	.	0.99991520749976	0.866
18	55328404	A	T	18	57661172	y	y	splicing	ATP8B1(NM_005603:exon23:c.2707+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2707+2T>A;ENST00000536015:exon23:c.2707+2T>A)	.	.	0.999988247793601	0.93
18	55328405	C	A	18	57661173	y	y	splicing	ATP8B1(NM_005603:exon23:c.2707+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2707+1G>T;ENST00000536015:exon23:c.2707+1G>T)	.	.	0.999986675681007	0.934
18	55328405	C	G	18	57661173	y	y	splicing	ATP8B1(NM_005603:exon23:c.2707+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2707+1G>C;ENST00000536015:exon23:c.2707+1G>C)	.	.	0.999986675681007	0.934
18	55328405	C	T	18	57661173	y	y	splicing	ATP8B1(NM_005603:exon23:c.2707+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2707+1G>A;ENST00000536015:exon23:c.2707+1G>A)	.	.	0.999986675681007	0.934
18	55328406	T	A	18	57661174	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2707T:p.T903S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2707T:p.T903S;ENSG00000081923:ENST00000536015:exon22:c.A2707T:p.T903S;	0.63100834507382	0.586
18	55328406	T	C	18	57661174	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2707G:p.T903A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2707G:p.T903A;ENSG00000081923:ENST00000536015:exon22:c.A2707G:p.T903A;	0.405382240394429	0.33
18	55328406	T	G	18	57661174	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2707C:p.T903P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2707C:p.T903P;ENSG00000081923:ENST00000536015:exon22:c.A2707C:p.T903P;	0.499247292049796	0.72
18	55328407	T	A	18	57661175	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2706T:p.K902N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2706T:p.K902N;ENSG00000081923:ENST00000536015:exon22:c.A2706T:p.K902N;	0.962065247756443	0.688
18	55328407	T	C	18	57661175	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon22:c.A2706G:p.K902K;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2706G:p.K902K;ENSG00000081923:ENST00000536015:exon22:c.A2706G:p.K902K;	0.160546236755435	0.3
18	55328407	T	G	18	57661175	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2706C:p.K902N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2706C:p.K902N;ENSG00000081923:ENST00000536015:exon22:c.A2706C:p.K902N;	0.581042833393872	0.636
18	55328408	T	A	18	57661176	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2705T:p.K902I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2705T:p.K902I;ENSG00000081923:ENST00000536015:exon22:c.A2705T:p.K902I;	0.983641244672705	0.688
18	55328408	T	C	18	57661176	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2705G:p.K902R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2705G:p.K902R;ENSG00000081923:ENST00000536015:exon22:c.A2705G:p.K902R;	0.130460018981271	0.286
18	55328408	T	G	18	57661176	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2705C:p.K902T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2705C:p.K902T;ENSG00000081923:ENST00000536015:exon22:c.A2705C:p.K902T;	0.782251098983334	0.72
18	55328693	T	A	18	57661461	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2420T:p.N807I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2420T:p.N807I;ENSG00000081923:ENST00000536015:exon22:c.A2420T:p.N807I;	0.749741747938887	0.636
18	55328693	T	C	18	57661461	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2420G:p.N807S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2420G:p.N807S;ENSG00000081923:ENST00000536015:exon22:c.A2420G:p.N807S;	0.204038036436547	0.304
18	55328693	T	G	18	57661461	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2420C:p.N807T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2420C:p.N807T;ENSG00000081923:ENST00000536015:exon22:c.A2420C:p.N807T;	0.105808514807011	0.298
18	55328694	T	A	18	57661462	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2419T:p.N807Y;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2419T:p.N807Y;ENSG00000081923:ENST00000536015:exon22:c.A2419T:p.N807Y;	0.430706687265204	0.482
18	55328694	T	C	18	57661462	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2419G:p.N807D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2419G:p.N807D;ENSG00000081923:ENST00000536015:exon22:c.A2419G:p.N807D;	0.00182599177248766	0.012
18	55328694	T	G	18	57661462	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon22:c.A2419C:p.N807H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon21:c.A2419C:p.N807H;ENSG00000081923:ENST00000536015:exon22:c.A2419C:p.N807H;	0.517879912651935	0.474
18	55328695	C	A	18	57661463	y	y	splicing	ATP8B1(NM_005603:exon23:c.2419-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2419-1G>T;ENST00000536015:exon23:c.2419-1G>T)	.	.	0.999989072007339	0.932
18	55328695	C	G	18	57661463	y	y	splicing	ATP8B1(NM_005603:exon23:c.2419-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2419-1G>C;ENST00000536015:exon23:c.2419-1G>C)	.	.	0.999989072007339	0.932
18	55328695	C	T	18	57661463	y	y	splicing	ATP8B1(NM_005603:exon23:c.2419-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2419-1G>A;ENST00000536015:exon23:c.2419-1G>A)	.	.	0.999989072007339	0.932
18	55328696	T	A	18	57661464	y	y	splicing	ATP8B1(NM_005603:exon23:c.2419-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2419-2A>T;ENST00000536015:exon23:c.2419-2A>T)	.	.	0.999978952611685	0.926
18	55328696	T	C	18	57661464	y	y	splicing	ATP8B1(NM_005603:exon23:c.2419-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2419-2A>G;ENST00000536015:exon23:c.2419-2A>G)	.	.	0.99994568797423	0.928
18	55328696	T	G	18	57661464	y	y	splicing	ATP8B1(NM_005603:exon23:c.2419-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon22:c.2419-2A>C;ENST00000536015:exon23:c.2419-2A>C)	.	.	0.99994568797423	0.928
18	55328697	G	A	18	57661465	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00997068001459287	0.078
18	55328697	G	C	18	57661465	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999377365167962	0.948
18	55328697	G	T	18	57661465	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.780392437491807	0.756
18	55328698	T	A	18	57661466	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.05713299445199E-5	0.0
18	55328698	T	C	18	57661466	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.25448913893103E-5	0.002
18	55328698	T	G	18	57661466	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.04440444178257E-5	0.004
18	55328699	G	A	18	57661467	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.55242702489789E-5	0.0
18	55328699	G	C	18	57661467	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00213055135524181	0.086
18	55328699	G	T	18	57661467	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.65828091650374E-4	0.04
18	55328700	A	C	18	57661468	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0990970883732805	0.416
18	55328700	A	G	18	57661468	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.88137207711247E-4	0.008
18	55328700	A	T	18	57661468	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.196652446187778	0.38
18	55328701	A	C	18	57661469	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0262586078697308	0.04
18	55328701	A	G	18	57661469	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.76195749652081E-5	0.006
18	55328701	A	T	18	57661469	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.435091732061119	0.254
18	55328702	A	C	18	57661470	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999927207226927	0.972
18	55328702	A	G	18	57661470	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.73819839264371E-5	0.0
18	55328702	A	T	18	57661470	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00884760678765013	0.07
18	55328703	T	A	18	57661471	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.51715955169506E-5	0.0
18	55328703	T	C	18	57661471	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.34230574383006E-5	0.0
18	55328703	T	G	18	57661471	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.46878921251595E-5	0.002
18	55328704	C	A	18	57661472	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.07269276461887E-5	0.004
18	55328704	C	G	18	57661472	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.79326627490759E-5	0.0
18	55328704	C	T	18	57661472	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.81739508419579E-4	0.0
18	55328705	A	C	18	57661473	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0594685722179734	0.292
18	55328705	A	G	18	57661473	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.46319710446824E-4	0.01
18	55328705	A	T	18	57661473	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998143838844317	0.856
18	55328706	G	A	18	57661474	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.91320489499667E-5	0.0
18	55328706	G	C	18	57661474	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.7292596906081E-4	0.044
18	55328706	G	T	18	57661474	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00238959488487691	0.04
18	55329707	A	C	18	57662475	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.30473275427391E-5	0.002
18	55329707	A	G	18	57662475	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.72761418815366E-5	0.002
18	55329707	A	T	18	57662475	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.33019643212499E-5	0.002
18	55329708	T	A	18	57662476	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00109915587253288	0.05
18	55329708	T	C	18	57662476	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00160023814564141	0.008
18	55329708	T	G	18	57662476	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.37320255612037E-4	0.006
18	55329709	A	C	18	57662477	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0977945126875247	0.44
18	55329709	A	G	18	57662477	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.467023471920701	0.492
18	55329709	A	T	18	57662477	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.701329548196091	0.456
18	55329710	C	A	18	57662478	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999978359767112	0.938
18	55329710	C	G	18	57662478	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999995559733243	0.976
18	55329710	C	T	18	57662478	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999980431817442	0.984
18	55329711	G	A	18	57662479	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.09634528788794E-4	0.004
18	55329711	G	C	18	57662479	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.35483677853203E-4	0.04
18	55329711	G	T	18	57662479	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.07183945638765E-5	0.018
18	55329712	T	A	18	57662480	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999129799356536	0.84
18	55329712	T	C	18	57662480	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0563341765096162	0.156
18	55329712	T	G	18	57662480	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999917565873359	0.868
18	55329713	A	C	18	57662481	y	y	splicing	ATP8B1(NM_005603:exon22:c.2418+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2418+2T>G;ENST00000536015:exon22:c.2418+2T>G)	.	.	0.99996509239462	0.944
18	55329713	A	G	18	57662481	y	y	splicing	ATP8B1(NM_005603:exon22:c.2418+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2418+2T>C;ENST00000536015:exon22:c.2418+2T>C)	.	.	0.955315639458846	0.622
18	55329713	A	T	18	57662481	y	y	splicing	ATP8B1(NM_005603:exon22:c.2418+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2418+2T>A;ENST00000536015:exon22:c.2418+2T>A)	.	.	0.99996509239462	0.938
18	55329714	C	A	18	57662482	y	y	splicing	ATP8B1(NM_005603:exon22:c.2418+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2418+1G>T;ENST00000536015:exon22:c.2418+1G>T)	.	.	0.99996509239462	0.932
18	55329714	C	G	18	57662482	y	y	splicing	ATP8B1(NM_005603:exon22:c.2418+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2418+1G>C;ENST00000536015:exon22:c.2418+1G>C)	.	.	0.99996509239462	0.932
18	55329714	C	T	18	57662482	y	y	splicing	ATP8B1(NM_005603:exon22:c.2418+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2418+1G>A;ENST00000536015:exon22:c.2418+1G>A)	.	.	0.99996509239462	0.924
18	55329715	C	A	18	57662483	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.G2418T:p.L806F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.G2418T:p.L806F;ENSG00000081923:ENST00000536015:exon21:c.G2418T:p.L806F;	0.999933946380035	0.956
18	55329715	C	G	18	57662483	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.G2418C:p.L806F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.G2418C:p.L806F;ENSG00000081923:ENST00000536015:exon21:c.G2418C:p.L806F;	0.999979535214053	0.938
18	55329715	C	T	18	57662483	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon21:c.G2418A:p.L806L;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.G2418A:p.L806L;ENSG00000081923:ENST00000536015:exon21:c.G2418A:p.L806L;	0.999877424738043	0.976
18	55329716	A	C	18	57662484	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2417G:p.L806W;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2417G:p.L806W;ENSG00000081923:ENST00000536015:exon21:c.T2417G:p.L806W;	0.679254953979873	0.506
18	55329716	A	G	18	57662484	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2417C:p.L806S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2417C:p.L806S;ENSG00000081923:ENST00000536015:exon21:c.T2417C:p.L806S;	0.915470450707667	0.696
18	55329716	A	T	18	57662484	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon21:c.T2417A:p.L806X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon20:c.T2417A:p.L806X;ENSG00000081923:ENST00000536015:exon21:c.T2417A:p.L806X;	0.782867125859696	0.68
18	55329717	A	C	18	57662485	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2416G:p.L806V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2416G:p.L806V;ENSG00000081923:ENST00000536015:exon21:c.T2416G:p.L806V;	2.6106396644084E-5	0.018
18	55329717	A	G	18	57662485	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon21:c.T2416C:p.L806L;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2416C:p.L806L;ENSG00000081923:ENST00000536015:exon21:c.T2416C:p.L806L;	1.65096955710674E-5	0.0
18	55329717	A	T	18	57662485	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2416A:p.L806M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2416A:p.L806M;ENSG00000081923:ENST00000536015:exon21:c.T2416A:p.L806M;	2.19377645986574E-5	0.026
18	55329846	A	C	18	57662614	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2287G:p.S763A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2287G:p.S763A;ENSG00000081923:ENST00000536015:exon21:c.T2287G:p.S763A;	3.80342490266859E-4	0.03
18	55329846	A	G	18	57662614	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2287C:p.S763P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2287C:p.S763P;ENSG00000081923:ENST00000536015:exon21:c.T2287C:p.S763P;	0.0014124851751388	0.028
18	55329846	A	T	18	57662614	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2287A:p.S763T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2287A:p.S763T;ENSG00000081923:ENST00000536015:exon21:c.T2287A:p.S763T;	4.35273474816889E-4	0.108
18	55329847	A	C	18	57662615	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2286G:p.N762K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2286G:p.N762K;ENSG00000081923:ENST00000536015:exon21:c.T2286G:p.N762K;	0.00304263653633911	0.198
18	55329847	A	G	18	57662615	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon21:c.T2286C:p.N762N;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2286C:p.N762N;ENSG00000081923:ENST00000536015:exon21:c.T2286C:p.N762N;	2.50582446354552E-4	0.008
18	55329847	A	T	18	57662615	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon21:c.T2286A:p.N762K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon20:c.T2286A:p.N762K;ENSG00000081923:ENST00000536015:exon21:c.T2286A:p.N762K;	5.80218028081192E-4	0.014
18	55329848	C	A	18	57662616	y	y	splicing	ATP8B1(NM_005603:exon22:c.2286-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2286-1G>T;ENST00000536015:exon22:c.2286-1G>T)	.	.	0.99998283665428	0.934
18	55329848	C	G	18	57662616	y	y	splicing	ATP8B1(NM_005603:exon22:c.2286-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2286-1G>C;ENST00000536015:exon22:c.2286-1G>C)	.	.	0.999975942011592	0.87
18	55329848	C	T	18	57662616	y	y	splicing	ATP8B1(NM_005603:exon22:c.2286-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2286-1G>A;ENST00000536015:exon22:c.2286-1G>A)	.	.	0.99998283665428	0.934
18	55329849	T	A	18	57662617	y	y	splicing	ATP8B1(NM_005603:exon22:c.2286-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2286-2A>T;ENST00000536015:exon22:c.2286-2A>T)	.	.	0.99996509239462	0.944
18	55329849	T	C	18	57662617	y	y	splicing	ATP8B1(NM_005603:exon22:c.2286-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2286-2A>G;ENST00000536015:exon22:c.2286-2A>G)	.	.	0.999965414246739	0.946
18	55329849	T	G	18	57662617	y	y	splicing	ATP8B1(NM_005603:exon22:c.2286-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon21:c.2286-2A>C;ENST00000536015:exon22:c.2286-2A>C)	.	.	0.999965414246739	0.946
18	55329850	A	C	18	57662618	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.993496612950643	0.716
18	55329850	A	G	18	57662618	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.48667221054521E-4	0.05
18	55329850	A	T	18	57662618	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.272604690571844	0.396
18	55329851	G	A	18	57662619	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.66530413225083E-4	0.04
18	55329851	G	C	18	57662619	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.22255198596253E-4	0.016
18	55329851	G	T	18	57662619	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.46948832236162E-4	0.016
18	55329852	G	A	18	57662620	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.63386721343731E-5	0.012
18	55329852	G	C	18	57662620	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00537560931975976	0.106
18	55329852	G	T	18	57662620	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0255560962860681	0.12
18	55329853	G	A	18	57662621	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.30002103567856E-4	0.078
18	55329853	G	C	18	57662621	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.510559217854746	0.43
18	55329853	G	T	18	57662621	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.28413338743247	0.42
18	55329854	G	A	18	57662622	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.99951526980525E-5	0.014
18	55329854	G	C	18	57662622	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.39228371732863E-4	0.12
18	55329854	G	T	18	57662622	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00409085185277613	0.164
18	55329855	A	C	18	57662623	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.02763372910252E-4	0.19
18	55329855	A	G	18	57662623	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.23940362757365E-6	0.006
18	55329855	A	T	18	57662623	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.011909384415486	0.2
18	55329856	A	C	18	57662624	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.103823510197183	0.328
18	55329856	A	G	18	57662624	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.84384319264352E-4	0.01
18	55329856	A	T	18	57662624	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.218762921609846	0.37
18	55329857	A	C	18	57662625	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.771278420132205	0.508
18	55329857	A	G	18	57662625	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00197569831641269	0.076
18	55329857	A	T	18	57662625	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.823179694050948	0.586
18	55329858	C	A	18	57662626	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.01492227745703E-5	0.066
18	55329858	C	G	18	57662626	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.34999318636917E-6	0.0
18	55329858	C	T	18	57662626	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.27257220636447E-5	0.002
18	55329859	C	A	18	57662627	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.05309433220355E-4	0.008
18	55329859	C	G	18	57662627	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.08060088695464E-5	0.0
18	55329859	C	T	18	57662627	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.997417080466234	0.954
18	55334316	T	A	18	57667084	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.04829432612063E-5	0.0
18	55334316	T	C	18	57667084	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.33316061012953E-5	0.0
18	55334316	T	G	18	57667084	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.98648491596017E-5	0.0
18	55334317	T	A	18	57667085	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.8323441631605E-4	0.036
18	55334317	T	C	18	57667085	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.79287789866486E-5	0.0
18	55334317	T	G	18	57667085	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.29577524508699E-5	0.0
18	55334318	A	C	18	57667086	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.583761997586296	0.568
18	55334318	A	G	18	57667086	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.591856976501439	0.514
18	55334318	A	T	18	57667086	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.638490125165728	0.564
18	55334319	C	A	18	57667087	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999982482708625	0.992
18	55334319	C	G	18	57667087	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999982482708625	0.974
18	55334319	C	T	18	57667087	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999967136562229	0.984
18	55334320	T	A	18	57667088	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999056425401422	0.71
18	55334320	T	C	18	57667088	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.997864462106759	0.75
18	55334320	T	G	18	57667088	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.958779995494759	0.606
18	55334321	C	A	18	57667089	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.895378430408184	0.39
18	55334321	C	G	18	57667089	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.974940526443297	0.52
18	55334321	C	T	18	57667089	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.89478949584891E-5	0.0
18	55334322	A	C	18	57667090	y	y	splicing	ATP8B1(NM_005603:exon21:c.2285+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2285+2T>G;ENST00000536015:exon21:c.2285+2T>G)	.	.	0.999966203349492	0.93
18	55334322	A	G	18	57667090	y	y	splicing	ATP8B1(NM_005603:exon21:c.2285+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2285+2T>C;ENST00000536015:exon21:c.2285+2T>C)	.	.	0.999747020140153	0.866
18	55334322	A	T	18	57667090	y	y	splicing	ATP8B1(NM_005603:exon21:c.2285+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2285+2T>A;ENST00000536015:exon21:c.2285+2T>A)	.	.	0.999966203349492	0.926
18	55334323	C	A	18	57667091	y	y	splicing	ATP8B1(NM_005603:exon21:c.2285+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2285+1G>T;ENST00000536015:exon21:c.2285+1G>T)	.	.	0.999981760802075	0.936
18	55334323	C	G	18	57667091	y	y	splicing	ATP8B1(NM_005603:exon21:c.2285+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2285+1G>C;ENST00000536015:exon21:c.2285+1G>C)	.	.	0.999981760802075	0.93
18	55334323	C	T	18	57667091	y	y	splicing	ATP8B1(NM_005603:exon21:c.2285+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2285+1G>A;ENST00000536015:exon21:c.2285+1G>A)	.	.	0.999981760802075	0.936
18	55334324	T	A	18	57667092	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2285T:p.N762I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2285T:p.N762I;ENSG00000081923:ENST00000536015:exon20:c.A2285T:p.N762I;	2.10947320775571E-4	0.132
18	55334324	T	C	18	57667092	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2285G:p.N762S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2285G:p.N762S;ENSG00000081923:ENST00000536015:exon20:c.A2285G:p.N762S;	1.31036114125987E-4	0.12
18	55334324	T	G	18	57667092	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2285C:p.N762T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2285C:p.N762T;ENSG00000081923:ENST00000536015:exon20:c.A2285C:p.N762T;	5.0327363962539E-4	0.222
18	55334325	T	A	18	57667093	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2284T:p.N762Y;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2284T:p.N762Y;ENSG00000081923:ENST00000536015:exon20:c.A2284T:p.N762Y;	0.994445651937114	0.844
18	55334325	T	C	18	57667093	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2284G:p.N762D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2284G:p.N762D;ENSG00000081923:ENST00000536015:exon20:c.A2284G:p.N762D;	0.571277216267547	0.636
18	55334325	T	G	18	57667093	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2284C:p.N762H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2284C:p.N762H;ENSG00000081923:ENST00000536015:exon20:c.A2284C:p.N762H;	0.955168031932187	0.778
18	55334326	A	C	18	57667094	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.T2283G:p.I761M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.T2283G:p.I761M;ENSG00000081923:ENST00000536015:exon20:c.T2283G:p.I761M;	4.77510327257412E-6	0.102
18	55334326	A	G	18	57667094	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon20:c.T2283C:p.I761I;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.T2283C:p.I761I;ENSG00000081923:ENST00000536015:exon20:c.T2283C:p.I761I;	1.47044811673792E-5	0.01
18	55334326	A	T	18	57667094	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon20:c.T2283A:p.I761I;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.T2283A:p.I761I;ENSG00000081923:ENST00000536015:exon20:c.T2283A:p.I761I;	1.33114376017225E-5	0.004
18	55334398	T	A	18	57667166	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2211T:p.E737D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2211T:p.E737D;ENSG00000081923:ENST00000536015:exon20:c.A2211T:p.E737D;	0.796527833924005	0.804
18	55334398	T	C	18	57667166	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon20:c.A2211G:p.E737E;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2211G:p.E737E;ENSG00000081923:ENST00000536015:exon20:c.A2211G:p.E737E;	0.0844172008845199	0.234
18	55334398	T	G	18	57667166	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2211C:p.E737D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2211C:p.E737D;ENSG00000081923:ENST00000536015:exon20:c.A2211C:p.E737D;	0.845981389148191	0.888
18	55334399	T	A	18	57667167	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2210T:p.E737V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2210T:p.E737V;ENSG00000081923:ENST00000536015:exon20:c.A2210T:p.E737V;	0.40652645654553	0.508
18	55334399	T	C	18	57667167	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2210G:p.E737G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2210G:p.E737G;ENSG00000081923:ENST00000536015:exon20:c.A2210G:p.E737G;	0.569223437668226	0.72
18	55334399	T	G	18	57667167	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon20:c.A2210C:p.E737A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon19:c.A2210C:p.E737A;ENSG00000081923:ENST00000536015:exon20:c.A2210C:p.E737A;	0.229175844792755	0.578
18	55334400	C	A	18	57667168	y	y	splicing	ATP8B1(NM_005603:exon21:c.2210-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2210-1G>T;ENST00000536015:exon21:c.2210-1G>T)	.	.	0.999985532734767	0.936
18	55334400	C	G	18	57667168	y	y	splicing	ATP8B1(NM_005603:exon21:c.2210-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2210-1G>C;ENST00000536015:exon21:c.2210-1G>C)	.	.	0.999985532734767	0.936
18	55334400	C	T	18	57667168	y	y	splicing	ATP8B1(NM_005603:exon21:c.2210-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2210-1G>A;ENST00000536015:exon21:c.2210-1G>A)	.	.	0.999985532734767	0.936
18	55334401	T	A	18	57667169	y	y	splicing	ATP8B1(NM_005603:exon21:c.2210-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2210-2A>T;ENST00000536015:exon21:c.2210-2A>T)	.	.	0.999988247793601	0.928
18	55334401	T	C	18	57667169	y	y	splicing	ATP8B1(NM_005603:exon21:c.2210-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2210-2A>G;ENST00000536015:exon21:c.2210-2A>G)	.	.	0.999988247793601	0.928
18	55334401	T	G	18	57667169	y	y	splicing	ATP8B1(NM_005603:exon21:c.2210-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon20:c.2210-2A>C;ENST00000536015:exon21:c.2210-2A>C)	.	.	0.999988247793601	0.928
18	55334402	A	C	18	57667170	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999299666057775	0.812
18	55334402	A	G	18	57667170	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.81493624353646E-5	0.004
18	55334402	A	T	18	57667170	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.779146561104596	0.294
18	55334403	C	A	18	57667171	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.48716853471308E-4	0.048
18	55334403	C	G	18	57667171	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.32524647381228E-4	0.014
18	55334403	C	T	18	57667171	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.74400021787653E-4	0.022
18	55334404	A	C	18	57667172	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.98036730942168	0.686
18	55334404	A	G	18	57667172	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0518691241304384	0.094
18	55334404	A	T	18	57667172	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999445667764546	0.938
18	55334405	A	C	18	57667173	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999318475699499	0.974
18	55334405	A	G	18	57667173	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.88765331208704E-4	0.01
18	55334405	A	T	18	57667173	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0793833434709442	0.44
18	55334406	T	A	18	57667174	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.04687034992962E-5	0.004
18	55334406	T	C	18	57667174	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.9987801423134E-5	0.0
18	55334406	T	G	18	57667174	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.01748103341597E-5	0.002
18	55334407	A	C	18	57667175	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.147668719282375	0.45
18	55334407	A	G	18	57667175	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.4267728491658E-4	0.024
18	55334407	A	T	18	57667175	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.593281838168579	0.432
18	55334408	G	A	18	57667176	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.29286035168061E-4	0.048
18	55334408	G	C	18	57667176	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.01291841206255E-4	0.076
18	55334408	G	T	18	57667176	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.19424072511606E-4	0.062
18	55334409	A	C	18	57667177	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.604407047282705	0.538
18	55334409	A	G	18	57667177	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00135560690138866	0.068
18	55334409	A	T	18	57667177	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.676844967566017	0.51
18	55334410	A	C	18	57667178	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999743657732219	0.948
18	55334410	A	G	18	57667178	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00629285564300775	0.208
18	55334410	A	T	18	57667178	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.532130127347445	0.512
18	55334411	T	A	18	57667179	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.01692509753124E-5	0.054
18	55334411	T	C	18	57667179	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.07893782545432E-5	0.068
18	55334411	T	G	18	57667179	y	y	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.95788762520664E-5	0.062
18	55335226	T	A	18	57667994	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.57123356397867E-5	0.01
18	55335226	T	C	18	57667994	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.19654958573966E-5	0.012
18	55335226	T	G	18	57667994	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.57123356397867E-5	0.012
18	55335227	T	A	18	57667995	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.67567235425056E-5	0.012
18	55335227	T	C	18	57667995	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.67567235425056E-5	0.012
18	55335227	T	G	18	57667995	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.67567235425056E-5	0.012
18	55335228	C	A	18	57667996	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.87307168057595E-5	0.114
18	55335228	C	G	18	57667996	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.39197057920209E-5	0.128
18	55335228	C	T	18	57667996	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.87307168057595E-5	0.116
18	55335229	T	A	18	57667997	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.85062238621114E-5	0.0
18	55335229	T	C	18	57667997	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.85062238621114E-5	0.0
18	55335229	T	G	18	57667997	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.85062238621114E-5	0.0
18	55335230	T	A	18	57667998	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.85062238621114E-5	0.004
18	55335230	T	C	18	57667998	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.85062238621114E-5	0.004
18	55335230	T	G	18	57667998	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.85062238621114E-5	0.004
18	55335231	T	A	18	57667999	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.455930068921E-5	0.002
18	55335231	T	C	18	57667999	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.455930068921E-5	0.002
18	55335231	T	G	18	57667999	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.455930068921E-5	0.002
18	55335232	C	A	18	57668000	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.89925739660516E-5	0.008
18	55335232	C	G	18	57668000	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.89925739660516E-5	0.006
18	55335232	C	T	18	57668000	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.15941453541388E-5	0.014
18	55335233	C	A	18	57668001	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.79545962655506E-5	0.014
18	55335233	C	G	18	57668001	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.99444208245176E-5	0.014
18	55335233	C	T	18	57668001	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.79545962655506E-5	0.014
18	55335234	T	A	18	57668002	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.33913640602548E-5	0.04
18	55335234	T	C	18	57668002	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.33913640602548E-5	0.038
18	55335234	T	G	18	57668002	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.33913640602548E-5	0.038
18	55335235	T	A	18	57668003	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.25896182624293E-5	0.0
18	55335235	T	C	18	57668003	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.25896182624293E-5	0.0
18	55335235	T	G	18	57668003	y	n	intronic	ATP8B1;RP11-35G9.3	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.25896182624293E-5	0.0
18	55335236	A	C	18	57668004	y	n	splicing	RP11-35G9.3(NM_001242804:exon3:c.140-2A>C)	.	.	ncRNA_splicing	ENSG00000267040(ENST00000592201:exon3:c.664-2A>C)	.	.	3.54782966277655E-5	0.0
18	55335236	A	G	18	57668004	y	n	splicing	RP11-35G9.3(NM_001242804:exon3:c.140-2A>G)	.	.	ncRNA_splicing	ENSG00000267040(ENST00000592201:exon3:c.664-2A>G)	.	.	3.54782966277655E-5	0.0
18	55335236	A	T	18	57668004	y	n	splicing	RP11-35G9.3(NM_001242804:exon3:c.140-2A>T)	.	.	ncRNA_splicing	ENSG00000267040(ENST00000592201:exon3:c.664-2A>T)	.	.	3.54782966277655E-5	0.002
18	55335237	G	A	18	57668005	y	n	splicing	RP11-35G9.3(NM_001242804:exon3:c.140-1G>A)	.	.	ncRNA_splicing	ENSG00000267040(ENST00000592201:exon3:c.664-1G>A)	.	.	5.23406572895204E-5	0.0
18	55335237	G	C	18	57668005	y	n	splicing	RP11-35G9.3(NM_001242804:exon3:c.140-1G>C)	.	.	ncRNA_splicing	ENSG00000267040(ENST00000592201:exon3:c.664-1G>C)	.	.	5.23406572895204E-5	0.002
18	55335237	G	T	18	57668005	y	n	splicing	RP11-35G9.3(NM_001242804:exon3:c.140-1G>T)	.	.	ncRNA_splicing	ENSG00000267040(ENST00000592201:exon3:c.664-1G>T)	.	.	5.23406572895204E-5	0.0
18	55335238	G	A	18	57668006	y	n	exonic	RP11-35G9.3	nonsynonymous SNV	RP11-35G9.3:NM_001242804:exon3:c.G140A:p.G47D;	ncRNA_exonic	ENSG00000267040	.	.	3.75289494538373E-5	0.006
18	55335238	G	C	18	57668006	y	n	exonic	RP11-35G9.3	nonsynonymous SNV	RP11-35G9.3:NM_001242804:exon3:c.G140C:p.G47A;	ncRNA_exonic	ENSG00000267040	.	.	4.52932449848953E-5	0.006
18	55335238	G	T	18	57668006	y	n	exonic	RP11-35G9.3	nonsynonymous SNV	RP11-35G9.3:NM_001242804:exon3:c.G140T:p.G47V;	ncRNA_exonic	ENSG00000267040	.	.	3.75289494538373E-5	0.006
18	55335239	T	A	18	57668007	y	n	exonic	RP11-35G9.3	synonymous SNV	RP11-35G9.3:NM_001242804:exon3:c.T141A:p.G47G;	ncRNA_exonic	ENSG00000267040	.	.	5.86075475573093E-5	0.002
18	55335239	T	C	18	57668007	y	n	exonic	RP11-35G9.3	synonymous SNV	RP11-35G9.3:NM_001242804:exon3:c.T141C:p.G47G;	ncRNA_exonic	ENSG00000267040	.	.	5.86075475573093E-5	0.0
18	55335239	T	G	18	57668007	y	n	exonic	RP11-35G9.3	synonymous SNV	RP11-35G9.3:NM_001242804:exon3:c.T141G:p.G47G;	ncRNA_exonic	ENSG00000267040	.	.	5.86075475573093E-5	0.0
18	55335653	T	A	18	57668421	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	4.21144131841368E-5	0.0
18	55335653	T	C	18	57668421	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	9.62659442169602E-5	0.002
18	55335653	T	G	18	57668421	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	3.0771441221434E-5	0.0
18	55335654	G	A	18	57668422	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	3.21795472775875E-4	0.01
18	55335654	G	C	18	57668422	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	1.94468610562628E-4	0.0
18	55335654	G	T	18	57668422	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	7.1090379947797E-5	0.0
18	55335655	A	C	18	57668423	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.00408548635630935	0.272
18	55335655	A	G	18	57668423	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.110788864614002	0.35
18	55335655	A	T	18	57668423	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.0137375549340818	0.226
18	55335656	A	C	18	57668424	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	1.39452754443261E-4	0.192
18	55335656	A	G	18	57668424	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	1.04919895241849E-4	0.004
18	55335656	A	T	18	57668424	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	8.67742890877684E-5	0.014
18	55335657	T	A	18	57668425	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.906897279464804	0.736
18	55335657	T	C	18	57668425	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.984078191113861	0.846
18	55335657	T	G	18	57668425	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.722327394864825	0.65
18	55335658	T	A	18	57668426	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999958492949535	0.974
18	55335658	T	C	18	57668426	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.992435265230688	0.902
18	55335658	T	G	18	57668426	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999961274510359	0.958
18	55335659	A	C	18	57668427	y	n	splicing	ATP8B1(NM_005603:exon20:c.2209+2T>G)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999988247793601	0.93
18	55335659	A	G	18	57668427	y	n	splicing	ATP8B1(NM_005603:exon20:c.2209+2T>C)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.995320650369382	0.704
18	55335659	A	T	18	57668427	y	n	splicing	ATP8B1(NM_005603:exon20:c.2209+2T>A)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999988247793601	0.93
18	55335660	C	A	18	57668428	y	n	splicing	ATP8B1(NM_005603:exon20:c.2209+1G>T)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999990361384395	0.938
18	55335660	C	G	18	57668428	y	n	splicing	ATP8B1(NM_005603:exon20:c.2209+1G>C)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999990361384395	0.938
18	55335660	C	T	18	57668428	y	n	splicing	ATP8B1(NM_005603:exon20:c.2209+1G>A)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999990361384395	0.938
18	55335661	C	A	18	57668429	y	n	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon19:c.G2209T:p.E737X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon18:c.G2209T:p.E737X;ENSG00000081923:ENST00000536015:exon19:c.G2209T:p.E737X;	0.999994513554261	0.938
18	55335661	C	G	18	57668429	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.G2209C:p.E737Q;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.G2209C:p.E737Q;ENSG00000081923:ENST00000536015:exon19:c.G2209C:p.E737Q;	0.999996000278724	1.0
18	55335661	C	T	18	57668429	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.G2209A:p.E737K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.G2209A:p.E737K;ENSG00000081923:ENST00000536015:exon19:c.G2209A:p.E737K;	0.999997205522925	0.996
18	55335662	C	A	18	57668430	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.G2208T:p.K736N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.G2208T:p.K736N;ENSG00000081923:ENST00000536015:exon19:c.G2208T:p.K736N;	0.0241376751633755	0.14
18	55335662	C	G	18	57668430	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.G2208C:p.K736N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.G2208C:p.K736N;ENSG00000081923:ENST00000536015:exon19:c.G2208C:p.K736N;	0.014959384791255	0.13
18	55335662	C	T	18	57668430	y	n	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon19:c.G2208A:p.K736K;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.G2208A:p.K736K;ENSG00000081923:ENST00000536015:exon19:c.G2208A:p.K736K;	3.88981367459807E-4	0.036
18	55335663	T	A	18	57668431	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.A2207T:p.K736M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.A2207T:p.K736M;ENSG00000081923:ENST00000536015:exon19:c.A2207T:p.K736M;	0.978522826808767	0.656
18	55335663	T	C	18	57668431	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.A2207G:p.K736R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.A2207G:p.K736R;ENSG00000081923:ENST00000536015:exon19:c.A2207G:p.K736R;	0.523863395041329	0.562
18	55335663	T	G	18	57668431	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.A2207C:p.K736T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.A2207C:p.K736T;ENSG00000081923:ENST00000536015:exon19:c.A2207C:p.K736T;	0.856976794207282	0.72
18	55335771	A	C	18	57668539	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.T2099G:p.L700R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.T2099G:p.L700R;ENSG00000081923:ENST00000536015:exon19:c.T2099G:p.L700R;	0.708605657636799	0.322
18	55335771	A	G	18	57668539	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.T2099C:p.L700P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.T2099C:p.L700P;ENSG00000081923:ENST00000536015:exon19:c.T2099C:p.L700P;	0.789873710005188	0.336
18	55335771	A	T	18	57668539	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.T2099A:p.L700H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.T2099A:p.L700H;ENSG00000081923:ENST00000536015:exon19:c.T2099A:p.L700H;	0.822645539409437	0.362
18	55335772	G	A	18	57668540	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.C2098T:p.L700F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.C2098T:p.L700F;ENSG00000081923:ENST00000536015:exon19:c.C2098T:p.L700F;	0.925284857099079	0.714
18	55335772	G	C	18	57668540	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.C2098G:p.L700V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.C2098G:p.L700V;ENSG00000081923:ENST00000536015:exon19:c.C2098G:p.L700V;	0.578625692743989	0.438
18	55335772	G	T	18	57668540	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon19:c.C2098A:p.L700I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon18:c.C2098A:p.L700I;ENSG00000081923:ENST00000536015:exon19:c.C2098A:p.L700I;	0.305773155808375	0.562
18	55335773	C	A	18	57668541	y	n	splicing	ATP8B1(NM_005603:exon20:c.2098-1G>T)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999987670894945	0.936
18	55335773	C	G	18	57668541	y	n	splicing	ATP8B1(NM_005603:exon20:c.2098-1G>C)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999977919436194	0.936
18	55335773	C	T	18	57668541	y	n	splicing	ATP8B1(NM_005603:exon20:c.2098-1G>A)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999987670894945	0.938
18	55335774	T	A	18	57668542	y	n	splicing	ATP8B1(NM_005603:exon20:c.2098-2A>T)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.99993872479901	0.926
18	55335774	T	C	18	57668542	y	n	splicing	ATP8B1(NM_005603:exon20:c.2098-2A>G)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.99993872479901	0.928
18	55335774	T	G	18	57668542	y	n	splicing	ATP8B1(NM_005603:exon20:c.2098-2A>C)	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.99993872479901	0.928
18	55335775	A	C	18	57668543	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.952806229119412	0.646
18	55335775	A	G	18	57668543	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	6.25666840381792E-5	0.036
18	55335775	A	T	18	57668543	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.127537450316686	0.386
18	55335776	G	A	18	57668544	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	2.15686062292836E-5	0.002
18	55335776	G	C	18	57668544	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	2.59084933418426E-4	0.144
18	55335776	G	T	18	57668544	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	3.94673626031248E-5	0.006
18	55335777	A	C	18	57668545	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.610444929547932	0.466
18	55335777	A	G	18	57668545	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.00295347752595023	0.108
18	55335777	A	T	18	57668545	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.641560403858289	0.482
18	55335778	A	C	18	57668546	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.998778757456233	0.966
18	55335778	A	G	18	57668546	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	6.44992164771989E-4	0.046
18	55335778	A	T	18	57668546	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.101593464326288	0.37
18	55335779	T	A	18	57668547	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	1.64976803657843E-5	0.022
18	55335779	T	C	18	57668547	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	2.26281176215501E-5	0.002
18	55335779	T	G	18	57668547	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	1.77440465025933E-5	0.0
18	55335780	G	A	18	57668548	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	5.58204775993147E-5	0.002
18	55335780	G	C	18	57668548	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999898380162338	0.994
18	55335780	G	T	18	57668548	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.0040924216140429	0.204
18	55335781	T	A	18	57668549	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	1.56410944320175E-5	0.0
18	55335781	T	C	18	57668549	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	2.00208089645967E-5	0.008
18	55335781	T	G	18	57668549	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	1.56410944320175E-5	0.0
18	55335782	A	C	18	57668550	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999953059267916	0.966
18	55335782	A	G	18	57668550	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.00446081357833238	0.23
18	55335782	A	T	18	57668550	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.0759821695923013	0.568
18	55335783	T	A	18	57668551	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	6.52234992053419E-5	0.04
18	55335783	T	C	18	57668551	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	2.00497569213835E-5	0.0
18	55335783	T	G	18	57668551	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	1.71869413685155E-5	0.0
18	55335784	A	C	18	57668552	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.999891649461523	0.968
18	55335784	A	G	18	57668552	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	6.15947036466185E-4	0.13
18	55335784	A	T	18	57668552	y	n	UTR3	RP11-35G9.3	.	.	ncRNA_exonic	ENSG00000267040	.	.	0.145393942872148	0.566
18	55336542	A	C	18	57669310	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0491511022393412	0.142
18	55336542	A	G	18	57669310	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0165442178423103	0.046
18	55336542	A	T	18	57669310	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0533697944386346	0.16
18	55336543	A	C	18	57669311	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.4919163553804E-4	0.008
18	55336543	A	G	18	57669311	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.4919163553804E-4	0.008
18	55336543	A	T	18	57669311	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.16797299872693E-4	0.006
18	55336544	A	C	18	57669312	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99935639934381	0.912
18	55336544	A	G	18	57669312	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998682635960109	0.972
18	55336544	A	T	18	57669312	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999256315412111	0.828
18	55336545	C	A	18	57669313	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999988453982068	0.958
18	55336545	C	G	18	57669313	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999978625139274	0.992
18	55336545	C	T	18	57669313	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999988453982068	0.998
18	55336546	T	A	18	57669314	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999791272017751	0.946
18	55336546	T	C	18	57669314	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999723932397268	0.992
18	55336546	T	G	18	57669314	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999624415632241	0.94
18	55336547	C	A	18	57669315	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998750933073959	0.816
18	55336547	C	G	18	57669315	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998818149491219	0.828
18	55336547	C	T	18	57669315	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.49245232887978E-4	0.006
18	55336548	A	C	18	57669316	y	y	splicing	ATP8B1(NM_005603:exon19:c.2097+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.2097+2T>G;ENST00000536015:exon19:c.2097+2T>G)	.	.	0.999990764389106	0.942
18	55336548	A	G	18	57669316	y	y	splicing	ATP8B1(NM_005603:exon19:c.2097+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.2097+2T>C;ENST00000536015:exon19:c.2097+2T>C)	.	.	0.999944774574506	0.89
18	55336548	A	T	18	57669316	y	y	splicing	ATP8B1(NM_005603:exon19:c.2097+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.2097+2T>A;ENST00000536015:exon19:c.2097+2T>A)	.	.	0.999990764389106	0.942
18	55336549	C	A	18	57669317	y	y	splicing	ATP8B1(NM_005603:exon19:c.2097+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.2097+1G>T;ENST00000536015:exon19:c.2097+1G>T)	.	.	0.999992425382947	0.94
18	55336549	C	G	18	57669317	y	y	splicing	ATP8B1(NM_005603:exon19:c.2097+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.2097+1G>C;ENST00000536015:exon19:c.2097+1G>C)	.	.	0.999992425382947	0.94
18	55336549	C	T	18	57669317	y	y	splicing	ATP8B1(NM_005603:exon19:c.2097+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.2097+1G>A;ENST00000536015:exon19:c.2097+1G>A)	.	.	0.999992425382947	0.94
18	55336550	A	C	18	57669318	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.T2097G:p.I699M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T2097G:p.I699M;ENSG00000081923:ENST00000536015:exon18:c.T2097G:p.I699M;	2.02550115085793E-4	0.228
18	55336550	A	G	18	57669318	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon18:c.T2097C:p.I699I;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T2097C:p.I699I;ENSG00000081923:ENST00000536015:exon18:c.T2097C:p.I699I;	0.0392780009734673	0.378
18	55336550	A	T	18	57669318	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon18:c.T2097A:p.I699I;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T2097A:p.I699I;ENSG00000081923:ENST00000536015:exon18:c.T2097A:p.I699I;	0.00419155262621095	0.11
18	55336551	A	C	18	57669319	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.T2096G:p.I699S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T2096G:p.I699S;ENSG00000081923:ENST00000536015:exon18:c.T2096G:p.I699S;	0.908178078688968	0.662
18	55336551	A	G	18	57669319	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.T2096C:p.I699T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T2096C:p.I699T;ENSG00000081923:ENST00000536015:exon18:c.T2096C:p.I699T;	0.270565866225206	0.39
18	55336551	A	T	18	57669319	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.T2096A:p.I699N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T2096A:p.I699N;ENSG00000081923:ENST00000536015:exon18:c.T2096A:p.I699N;	0.772013607653271	0.518
18	55336552	T	A	18	57669320	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.A2095T:p.I699F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.A2095T:p.I699F;ENSG00000081923:ENST00000536015:exon18:c.A2095T:p.I699F;	0.998936825684779	0.812
18	55336552	T	C	18	57669320	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.A2095G:p.I699V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.A2095G:p.I699V;ENSG00000081923:ENST00000536015:exon18:c.A2095G:p.I699V;	0.678433369872848	0.462
18	55336552	T	G	18	57669320	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.A2095C:p.I699L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.A2095C:p.I699L;ENSG00000081923:ENST00000536015:exon18:c.A2095C:p.I699L;	0.953650742381517	0.586
18	55336713	A	C	18	57669481	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.T1934G:p.I645S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T1934G:p.I645S;ENSG00000081923:ENST00000536015:exon18:c.T1934G:p.I645S;	0.0013424220811036	0.126
18	55336713	A	G	18	57669481	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.T1934C:p.I645T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T1934C:p.I645T;ENSG00000081923:ENST00000536015:exon18:c.T1934C:p.I645T;	0.0017497973776089	0.126
18	55336713	A	T	18	57669481	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.T1934A:p.I645N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.T1934A:p.I645N;ENSG00000081923:ENST00000536015:exon18:c.T1934A:p.I645N;	0.13292619180235	0.34
18	55336714	T	A	18	57669482	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.A1933T:p.I645F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.A1933T:p.I645F;ENSG00000081923:ENST00000536015:exon18:c.A1933T:p.I645F;	8.82986418356502E-5	0.15
18	55336714	T	C	18	57669482	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.A1933G:p.I645V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.A1933G:p.I645V;ENSG00000081923:ENST00000536015:exon18:c.A1933G:p.I645V;	3.19339106517367E-5	0.032
18	55336714	T	G	18	57669482	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon18:c.A1933C:p.I645L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon17:c.A1933C:p.I645L;ENSG00000081923:ENST00000536015:exon18:c.A1933C:p.I645L;	9.53454259807041E-4	0.058
18	55336715	C	A	18	57669483	y	y	splicing	ATP8B1(NM_005603:exon19:c.1933-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.1933-1G>T;ENST00000536015:exon19:c.1933-1G>T)	.	.	0.999983315092066	0.908
18	55336715	C	G	18	57669483	y	y	splicing	ATP8B1(NM_005603:exon19:c.1933-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.1933-1G>C;ENST00000536015:exon19:c.1933-1G>C)	.	.	0.999983315092066	0.908
18	55336715	C	T	18	57669483	y	y	splicing	ATP8B1(NM_005603:exon19:c.1933-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.1933-1G>A;ENST00000536015:exon19:c.1933-1G>A)	.	.	0.999983315092066	0.908
18	55336716	T	A	18	57669484	y	y	splicing	ATP8B1(NM_005603:exon19:c.1933-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.1933-2A>T;ENST00000536015:exon19:c.1933-2A>T)	.	.	0.999926102992308	0.914
18	55336716	T	C	18	57669484	y	y	splicing	ATP8B1(NM_005603:exon19:c.1933-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.1933-2A>G;ENST00000536015:exon19:c.1933-2A>G)	.	.	0.999942806147512	0.912
18	55336716	T	G	18	57669484	y	y	splicing	ATP8B1(NM_005603:exon19:c.1933-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon18:c.1933-2A>C;ENST00000536015:exon19:c.1933-2A>C)	.	.	0.999942806147512	0.912
18	55336717	G	A	18	57669485	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00712323432317198	0.146
18	55336717	G	C	18	57669485	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999661978409929	0.86
18	55336717	G	T	18	57669485	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99856279503016	0.842
18	55336718	T	A	18	57669486	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00606789832440827	0.164
18	55336718	T	C	18	57669486	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999183729631998	0.926
18	55336718	T	G	18	57669486	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00701953940180277	0.094
18	55336719	T	A	18	57669487	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.09642291476431E-4	0.12
18	55336719	T	C	18	57669487	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999337395018117	0.964
18	55336719	T	G	18	57669487	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.0258363832792E-4	0.03
18	55336720	T	A	18	57669488	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.31762117236848E-4	0.052
18	55336720	T	C	18	57669488	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998571837771349	0.914
18	55336720	T	G	18	57669488	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.83671958027704E-4	0.112
18	55336721	T	A	18	57669489	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.1990364721285E-5	0.052
18	55336721	T	C	18	57669489	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.88313019216286E-5	0.012
18	55336721	T	G	18	57669489	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.63040176260053E-5	0.014
18	55336722	A	C	18	57669490	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999668326175857	0.97
18	55336722	A	G	18	57669490	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.26772259527991E-4	0.062
18	55336722	A	T	18	57669490	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.320047825891506	0.552
18	55336723	T	A	18	57669491	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.73162475468006E-5	0.006
18	55336723	T	C	18	57669491	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.988512964481319	0.978
18	55336723	T	G	18	57669491	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.54359325244071E-5	0.004
18	55336724	T	A	18	57669492	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.65422916612634E-4	0.028
18	55336724	T	C	18	57669492	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999101823058187	0.962
18	55336724	T	G	18	57669492	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.6566438050217E-4	0.02
18	55336725	T	A	18	57669493	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.36475164215061E-5	0.032
18	55336725	T	C	18	57669493	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.15966507793954E-5	0.016
18	55336725	T	G	18	57669493	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.67944982512943E-5	0.008
18	55336726	A	C	18	57669494	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.26353221377974E-4	0.428
18	55336726	A	G	18	57669494	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.36440594166491E-5	0.084
18	55336726	A	T	18	57669494	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0191536911887975	0.572
18	55338692	A	C	18	57671460	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.33141600191487E-5	0.0
18	55338692	A	G	18	57671460	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.64745399314608E-5	0.0
18	55338692	A	T	18	57671460	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.33141600191487E-5	0.0
18	55338693	A	C	18	57671461	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.26501254653793E-5	0.0
18	55338693	A	G	18	57671461	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.26501254653793E-5	0.006
18	55338693	A	T	18	57671461	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.26501254653793E-5	0.0
18	55338694	A	C	18	57671462	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.687372120848136	0.564
18	55338694	A	G	18	57671462	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.657774117840482	0.66
18	55338694	A	T	18	57671462	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.953377003433895	0.714
18	55338695	C	A	18	57671463	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999965000002604	0.952
18	55338695	C	G	18	57671463	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999381352929598	0.956
18	55338695	C	T	18	57671463	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999855807849125	0.896
18	55338696	T	A	18	57671464	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998928780690471	0.928
18	55338696	T	C	18	57671464	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998987638983405	0.944
18	55338696	T	G	18	57671464	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.995062986335881	0.86
18	55338697	T	A	18	57671465	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999818595585335	0.906
18	55338697	T	C	18	57671465	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0930435794243766	0.28
18	55338697	T	G	18	57671465	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99967959193178	0.88
18	55338698	A	C	18	57671466	y	y	splicing	ATP8B1(NM_005603:exon18:c.1932+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1932+2T>G;ENST00000536015:exon18:c.1932+2T>G)	.	.	0.999988247793601	0.93
18	55338698	A	G	18	57671466	y	y	splicing	ATP8B1(NM_005603:exon18:c.1932+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1932+2T>C;ENST00000536015:exon18:c.1932+2T>C)	.	.	0.992783534660112	0.682
18	55338698	A	T	18	57671466	y	y	splicing	ATP8B1(NM_005603:exon18:c.1932+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1932+2T>A;ENST00000536015:exon18:c.1932+2T>A)	.	.	0.999988247793601	0.93
18	55338699	C	A	18	57671467	y	y	splicing	ATP8B1(NM_005603:exon18:c.1932+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1932+1G>T;ENST00000536015:exon18:c.1932+1G>T)	.	.	0.999990361384395	0.938
18	55338699	C	G	18	57671467	y	y	splicing	ATP8B1(NM_005603:exon18:c.1932+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1932+1G>C;ENST00000536015:exon18:c.1932+1G>C)	.	.	0.999990361384395	0.938
18	55338699	C	T	18	57671467	y	y	splicing	ATP8B1(NM_005603:exon18:c.1932+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1932+1G>A;ENST00000536015:exon18:c.1932+1G>A)	.	.	0.999990361384395	0.938
18	55338700	A	C	18	57671468	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.T1932G:p.D644E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.T1932G:p.D644E;ENSG00000081923:ENST00000536015:exon17:c.T1932G:p.D644E;	1.87341047249688E-4	0.132
18	55338700	A	G	18	57671468	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon17:c.T1932C:p.D644D;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.T1932C:p.D644D;ENSG00000081923:ENST00000536015:exon17:c.T1932C:p.D644D;	0.00107860321973001	0.06
18	55338700	A	T	18	57671468	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.T1932A:p.D644E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.T1932A:p.D644E;ENSG00000081923:ENST00000536015:exon17:c.T1932A:p.D644E;	2.60751476732783E-4	0.08
18	55338701	T	A	18	57671469	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.A1931T:p.D644V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.A1931T:p.D644V;ENSG00000081923:ENST00000536015:exon17:c.A1931T:p.D644V;	0.999187504437181	0.94
18	55338701	T	C	18	57671469	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.A1931G:p.D644G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.A1931G:p.D644G;ENSG00000081923:ENST00000536015:exon17:c.A1931G:p.D644G;	0.999275774293073	0.926
18	55338701	T	G	18	57671469	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.A1931C:p.D644A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.A1931C:p.D644A;ENSG00000081923:ENST00000536015:exon17:c.A1931C:p.D644A;	0.996637049408524	0.96
18	55338702	C	A	18	57671470	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.G1930T:p.D644Y;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.G1930T:p.D644Y;ENSG00000081923:ENST00000536015:exon17:c.G1930T:p.D644Y;	0.981577667772776	0.792
18	55338702	C	G	18	57671470	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.G1930C:p.D644H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.G1930C:p.D644H;ENSG00000081923:ENST00000536015:exon17:c.G1930C:p.D644H;	0.955747656521182	0.774
18	55338702	C	T	18	57671470	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.G1930A:p.D644N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.G1930A:p.D644N;ENSG00000081923:ENST00000536015:exon17:c.G1930A:p.D644N;	0.928678597004254	0.646
18	55338811	T	A	18	57671579	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon17:c.A1821T:p.V607V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.A1821T:p.V607V;ENSG00000081923:ENST00000536015:exon17:c.A1821T:p.V607V;	1.58961189118563E-4	0.014
18	55338811	T	C	18	57671579	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon17:c.A1821G:p.V607V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.A1821G:p.V607V;ENSG00000081923:ENST00000536015:exon17:c.A1821G:p.V607V;	6.42280075775489E-4	0.016
18	55338811	T	G	18	57671579	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon17:c.A1821C:p.V607V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.A1821C:p.V607V;ENSG00000081923:ENST00000536015:exon17:c.A1821C:p.V607V;	2.58064381825281E-4	0.014
18	55338812	A	C	18	57671580	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.T1820G:p.V607G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.T1820G:p.V607G;ENSG00000081923:ENST00000536015:exon17:c.T1820G:p.V607G;	0.787306531477471	0.564
18	55338812	A	G	18	57671580	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.T1820C:p.V607A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.T1820C:p.V607A;ENSG00000081923:ENST00000536015:exon17:c.T1820C:p.V607A;	0.961713410682503	0.628
18	55338812	A	T	18	57671580	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon17:c.T1820A:p.V607E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon16:c.T1820A:p.V607E;ENSG00000081923:ENST00000536015:exon17:c.T1820A:p.V607E;	0.681647957044413	0.628
18	55338813	C	A	18	57671581	y	y	splicing	ATP8B1(NM_005603:exon18:c.1820-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1820-1G>T;ENST00000536015:exon18:c.1820-1G>T)	.	.	0.999992425382947	0.94
18	55338813	C	G	18	57671581	y	y	splicing	ATP8B1(NM_005603:exon18:c.1820-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1820-1G>C;ENST00000536015:exon18:c.1820-1G>C)	.	.	0.999992425382947	0.94
18	55338813	C	T	18	57671581	y	y	splicing	ATP8B1(NM_005603:exon18:c.1820-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1820-1G>A;ENST00000536015:exon18:c.1820-1G>A)	.	.	0.999992425382947	0.94
18	55338814	T	A	18	57671582	y	y	splicing	ATP8B1(NM_005603:exon18:c.1820-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1820-2A>T;ENST00000536015:exon18:c.1820-2A>T)	.	.	0.999990764389106	0.94
18	55338814	T	C	18	57671582	y	y	splicing	ATP8B1(NM_005603:exon18:c.1820-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1820-2A>G;ENST00000536015:exon18:c.1820-2A>G)	.	.	0.999990764389106	0.94
18	55338814	T	G	18	57671582	y	y	splicing	ATP8B1(NM_005603:exon18:c.1820-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon17:c.1820-2A>C;ENST00000536015:exon18:c.1820-2A>C)	.	.	0.999990764389106	0.94
18	55338815	G	A	18	57671583	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00118225606998057	0.17
18	55338815	G	C	18	57671583	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998914968489931	0.77
18	55338815	G	T	18	57671583	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.919827715452678	0.744
18	55338816	G	A	18	57671584	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.28168190007604E-4	0.026
18	55338816	G	C	18	57671584	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.800509518195626	0.534
18	55338816	G	T	18	57671584	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.82973154827477E-4	0.042
18	55338817	T	A	18	57671585	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.67944982512943E-5	0.0
18	55338817	T	C	18	57671585	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.3342304357145E-5	0.002
18	55338817	T	G	18	57671585	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.25712051380913E-6	0.0
18	55338818	A	C	18	57671586	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0089479213385893	0.404
18	55338818	A	G	18	57671586	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.130961714025E-5	0.086
18	55338818	A	T	18	57671586	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0041846012284363	0.396
18	55338819	G	A	18	57671587	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.16386233461807E-4	0.042
18	55338819	G	C	18	57671587	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999783721362748	0.77
18	55338819	G	T	18	57671587	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.55797300266257E-4	0.122
18	55338820	T	A	18	57671588	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.74442237580261E-5	0.062
18	55338820	T	C	18	57671588	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.22186492004529E-5	0.04
18	55338820	T	G	18	57671588	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.12762185068846E-5	0.072
18	55338821	A	C	18	57671589	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0044539207426335	0.332
18	55338821	A	G	18	57671589	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.42194372352159E-4	0.09
18	55338821	A	T	18	57671589	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0109361042672484	0.382
18	55338822	A	C	18	57671590	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.123436731462622	0.488
18	55338822	A	G	18	57671590	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.80534712129995E-4	0.082
18	55338822	A	T	18	57671590	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.12965191100682	0.422
18	55338823	A	C	18	57671591	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0799707839235097	0.338
18	55338823	A	G	18	57671591	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.43939120310851E-4	0.098
18	55338823	A	T	18	57671591	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0673756891280409	0.3
18	55338824	A	C	18	57671592	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00184256633483824	0.18
18	55338824	A	G	18	57671592	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.34652461256205E-5	0.008
18	55338824	A	T	18	57671592	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00354192338272106	0.174
18	55342058	G	A	18	57674826	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.86817657573867E-5	0.006
18	55342058	G	C	18	57674826	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.34698575436269E-5	0.002
18	55342058	G	T	18	57674826	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.86817657573867E-5	0.006
18	55342059	G	A	18	57674827	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.51266128542051E-4	0.058
18	55342059	G	C	18	57674827	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.64328173172739E-4	0.044
18	55342059	G	T	18	57674827	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.64328173172739E-4	0.036
18	55342060	A	C	18	57674828	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.96533134588138E-4	0.01
18	55342060	A	G	18	57674828	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00210992760349505	0.052
18	55342060	A	T	18	57674828	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00102501473575895	0.02
18	55342061	C	A	18	57674829	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999219454137565	0.898
18	55342061	C	G	18	57674829	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.996530920330051	0.902
18	55342061	C	T	18	57674829	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.997650005791864	0.932
18	55342062	T	A	18	57674830	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0717527158196194	0.364
18	55342062	T	C	18	57674830	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.13035930211725	0.384
18	55342062	T	G	18	57674830	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0378054724441153	0.394
18	55342063	T	A	18	57674831	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.971528207079638	0.668
18	55342063	T	C	18	57674831	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00389606087994438	0.178
18	55342063	T	G	18	57674831	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.988624343729196	0.764
18	55342064	A	C	18	57674832	y	y	splicing	ATP8B1(NM_005603:exon17:c.1819+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1819+2T>G;ENST00000536015:exon17:c.1819+2T>G)	.	.	0.99994568797423	0.936
18	55342064	A	G	18	57674832	y	y	splicing	ATP8B1(NM_005603:exon17:c.1819+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1819+2T>C;ENST00000536015:exon17:c.1819+2T>C)	.	.	0.985124993549982	0.684
18	55342064	A	T	18	57674832	y	y	splicing	ATP8B1(NM_005603:exon17:c.1819+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1819+2T>A;ENST00000536015:exon17:c.1819+2T>A)	.	.	0.99994568797423	0.928
18	55342065	C	A	18	57674833	y	y	splicing	ATP8B1(NM_005603:exon17:c.1819+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1819+1G>T;ENST00000536015:exon17:c.1819+1G>T)	.	.	0.999974090184857	0.936
18	55342065	C	G	18	57674833	y	y	splicing	ATP8B1(NM_005603:exon17:c.1819+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1819+1G>C;ENST00000536015:exon17:c.1819+1G>C)	.	.	0.999974090184857	0.93
18	55342065	C	T	18	57674833	y	y	splicing	ATP8B1(NM_005603:exon17:c.1819+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1819+1G>A;ENST00000536015:exon17:c.1819+1G>A)	.	.	0.999974090184857	0.936
18	55342066	C	A	18	57674834	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.G1819T:p.V607L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.G1819T:p.V607L;ENSG00000081923:ENST00000536015:exon16:c.G1819T:p.V607L;	0.956168020760563	0.716
18	55342066	C	G	18	57674834	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.G1819C:p.V607L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.G1819C:p.V607L;ENSG00000081923:ENST00000536015:exon16:c.G1819C:p.V607L;	0.761925347592141	0.702
18	55342066	C	T	18	57674834	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.G1819A:p.V607I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.G1819A:p.V607I;ENSG00000081923:ENST00000536015:exon16:c.G1819A:p.V607I;	0.961050380072743	0.692
18	55342067	A	C	18	57674835	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.T1818G:p.I606M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1818G:p.I606M;ENSG00000081923:ENST00000536015:exon16:c.T1818G:p.I606M;	3.00819280922725E-4	0.056
18	55342067	A	G	18	57674835	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon16:c.T1818C:p.I606I;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1818C:p.I606I;ENSG00000081923:ENST00000536015:exon16:c.T1818C:p.I606I;	7.45557223466861E-5	0.0
18	55342067	A	T	18	57674835	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon16:c.T1818A:p.I606I;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1818A:p.I606I;ENSG00000081923:ENST00000536015:exon16:c.T1818A:p.I606I;	2.0922817907806E-5	0.058
18	55342068	A	C	18	57674836	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.T1817G:p.I606S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1817G:p.I606S;ENSG00000081923:ENST00000536015:exon16:c.T1817G:p.I606S;	0.719969579392057	0.734
18	55342068	A	G	18	57674836	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.T1817C:p.I606T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1817C:p.I606T;ENSG00000081923:ENST00000536015:exon16:c.T1817C:p.I606T;	0.49634441698656	0.626
18	55342068	A	T	18	57674836	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.T1817A:p.I606N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1817A:p.I606N;ENSG00000081923:ENST00000536015:exon16:c.T1817A:p.I606N;	0.573768263257893	0.704
18	55342253	A	C	18	57675021	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon16:c.T1632G:p.G544G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1632G:p.G544G;ENSG00000081923:ENST00000536015:exon16:c.T1632G:p.G544G;	8.78354426055117E-4	0.018
18	55342253	A	G	18	57675021	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon16:c.T1632C:p.G544G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1632C:p.G544G;ENSG00000081923:ENST00000536015:exon16:c.T1632C:p.G544G;	0.00141170800944053	0.064
18	55342253	A	T	18	57675021	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon16:c.T1632A:p.G544G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.T1632A:p.G544G;ENSG00000081923:ENST00000536015:exon16:c.T1632A:p.G544G;	9.68529926606791E-4	0.014
18	55342254	C	A	18	57675022	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.G1631T:p.G544V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.G1631T:p.G544V;ENSG00000081923:ENST00000536015:exon16:c.G1631T:p.G544V;	0.969031396260979	0.88
18	55342254	C	G	18	57675022	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.G1631C:p.G544A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.G1631C:p.G544A;ENSG00000081923:ENST00000536015:exon16:c.G1631C:p.G544A;	0.9171003996755	0.812
18	55342254	C	T	18	57675022	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon16:c.G1631A:p.G544D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon15:c.G1631A:p.G544D;ENSG00000081923:ENST00000536015:exon16:c.G1631A:p.G544D;	0.268287330126851	0.408
18	55342255	C	A	18	57675023	y	y	splicing	ATP8B1(NM_005603:exon17:c.1631-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1631-1G>T;ENST00000536015:exon17:c.1631-1G>T)	.	.	0.999985532734767	0.938
18	55342255	C	G	18	57675023	y	y	splicing	ATP8B1(NM_005603:exon17:c.1631-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1631-1G>C;ENST00000536015:exon17:c.1631-1G>C)	.	.	0.999985532734767	0.936
18	55342255	C	T	18	57675023	y	y	splicing	ATP8B1(NM_005603:exon17:c.1631-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1631-1G>A;ENST00000536015:exon17:c.1631-1G>A)	.	.	0.999985532734767	0.938
18	55342256	T	A	18	57675024	y	y	splicing	ATP8B1(NM_005603:exon17:c.1631-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1631-2A>T;ENST00000536015:exon17:c.1631-2A>T)	.	.	0.999978952611685	0.928
18	55342256	T	C	18	57675024	y	y	splicing	ATP8B1(NM_005603:exon17:c.1631-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1631-2A>G;ENST00000536015:exon17:c.1631-2A>G)	.	.	0.99994568797423	0.926
18	55342256	T	G	18	57675024	y	y	splicing	ATP8B1(NM_005603:exon17:c.1631-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon16:c.1631-2A>C;ENST00000536015:exon17:c.1631-2A>C)	.	.	0.99994568797423	0.926
18	55342257	A	C	18	57675025	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.5271136667636	0.55
18	55342257	A	G	18	57675025	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.91627290302641E-5	0.0
18	55342257	A	T	18	57675025	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00103086647538648	0.05
18	55342258	A	C	18	57675026	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.75804442395691E-4	0.004
18	55342258	A	G	18	57675026	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.04766428766548E-5	0.0
18	55342258	A	T	18	57675026	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.21791414960387E-5	0.0
18	55342259	C	A	18	57675027	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.91240048465579E-5	0.006
18	55342259	C	G	18	57675027	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.78511622416054E-5	0.002
18	55342259	C	T	18	57675027	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.79545962655506E-5	0.002
18	55342260	A	C	18	57675028	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.62514727075835E-4	0.082
18	55342260	A	G	18	57675028	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.04414831956155E-5	0.002
18	55342260	A	T	18	57675028	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99890660087774	0.978
18	55342261	A	C	18	57675029	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00102029303309728	0.064
18	55342261	A	G	18	57675029	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.69590685994221E-5	0.006
18	55342261	A	T	18	57675029	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00127281734456952	0.05
18	55342262	G	A	18	57675030	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.88571384665585E-5	0.004
18	55342262	G	C	18	57675030	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.03775271257779E-4	0.02
18	55342262	G	T	18	57675030	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.84223207596534E-4	0.028
18	55342263	G	A	18	57675031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.97018975761258E-5	0.0
18	55342263	G	C	18	57675031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.90046687254265E-5	0.014
18	55342263	G	T	18	57675031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.96767736140389E-4	0.038
18	55342264	A	C	18	57675032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0194484977252684	0.292
18	55342264	A	G	18	57675032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.01645181852271E-4	0.02
18	55342264	A	T	18	57675032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0860760666995048	0.33
18	55342265	A	C	18	57675033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0329585138943834	0.516
18	55342265	A	G	18	57675033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.11005978135397E-4	0.12
18	55342265	A	T	18	57675033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.097564206419325	0.516
18	55342266	G	A	18	57675034	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.41951394840412E-4	0.006
18	55342266	G	C	18	57675034	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.25969315734503E-4	0.08
18	55342266	G	T	18	57675034	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00412005656094836	0.132
18	55351260	A	C	18	57684028	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.03455917525799E-4	0.036
18	55351260	A	G	18	57684028	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.65883519289621E-5	0.0
18	55351260	A	T	18	57684028	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.65883519289621E-5	0.0
18	55351261	C	A	18	57684029	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.13699567543885E-5	0.0
18	55351261	C	G	18	57684029	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.02276058690117E-5	0.0
18	55351261	C	T	18	57684029	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.02276058690117E-5	0.0
18	55351262	A	C	18	57684030	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.388431647131109	0.48
18	55351262	A	G	18	57684030	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.653359012519685	0.432
18	55351262	A	T	18	57684030	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.914398602665172	0.532
18	55351263	C	A	18	57684031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999979872280019	0.924
18	55351263	C	G	18	57684031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999994968306234	0.938
18	55351263	C	T	18	57684031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999909820695816	0.91
18	55351264	T	A	18	57684032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.985420691982905	0.698
18	55351264	T	C	18	57684032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.973479672558313	0.68
18	55351264	T	G	18	57684032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.364454038907952	0.402
18	55351265	C	A	18	57684033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0546043040388837	0.276
18	55351265	C	G	18	57684033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.293199355996313	0.456
18	55351265	C	T	18	57684033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.67771185305173E-5	0.0
18	55351266	A	C	18	57684034	y	y	splicing	ATP8B1(NM_005603:exon16:c.1630+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1630+2T>G;ENST00000536015:exon16:c.1630+2T>G)	.	.	0.99996509239462	0.948
18	55351266	A	G	18	57684034	y	y	splicing	ATP8B1(NM_005603:exon16:c.1630+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1630+2T>C;ENST00000536015:exon16:c.1630+2T>C)	.	.	0.999785833749988	0.92
18	55351266	A	T	18	57684034	y	y	splicing	ATP8B1(NM_005603:exon16:c.1630+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1630+2T>A;ENST00000536015:exon16:c.1630+2T>A)	.	.	0.99996509239462	0.942
18	55351267	C	A	18	57684035	y	y	splicing	ATP8B1(NM_005603:exon16:c.1630+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1630+1G>T;ENST00000536015:exon16:c.1630+1G>T)	.	.	0.99995545544995	0.932
18	55351267	C	G	18	57684035	y	y	splicing	ATP8B1(NM_005603:exon16:c.1630+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1630+1G>C;ENST00000536015:exon16:c.1630+1G>C)	.	.	0.99995545544995	0.938
18	55351267	C	T	18	57684035	y	y	splicing	ATP8B1(NM_005603:exon16:c.1630+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1630+1G>A;ENST00000536015:exon16:c.1630+1G>A)	.	.	0.99995545544995	0.932
18	55351268	C	A	18	57684036	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.G1630T:p.G544C;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.G1630T:p.G544C;ENSG00000081923:ENST00000536015:exon15:c.G1630T:p.G544C;	0.999972623068682	0.956
18	55351268	C	G	18	57684036	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.G1630C:p.G544R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.G1630C:p.G544R;ENSG00000081923:ENST00000536015:exon15:c.G1630C:p.G544R;	0.999959033779658	0.934
18	55351268	C	T	18	57684036	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.G1630A:p.G544S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.G1630A:p.G544S;ENSG00000081923:ENST00000536015:exon15:c.G1630A:p.G544S;	0.999976726347302	0.978
18	55351269	A	C	18	57684037	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.T1629G:p.D543E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.T1629G:p.D543E;ENSG00000081923:ENST00000536015:exon15:c.T1629G:p.D543E;	3.80161203601239E-5	0.004
18	55351269	A	G	18	57684037	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon15:c.T1629C:p.D543D;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.T1629C:p.D543D;ENSG00000081923:ENST00000536015:exon15:c.T1629C:p.D543D;	2.27734576806349E-5	0.0
18	55351269	A	T	18	57684037	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.T1629A:p.D543E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.T1629A:p.D543E;ENSG00000081923:ENST00000536015:exon15:c.T1629A:p.D543E;	4.65551372066914E-5	0.054
18	55351270	T	A	18	57684038	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.A1628T:p.D543V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.A1628T:p.D543V;ENSG00000081923:ENST00000536015:exon15:c.A1628T:p.D543V;	0.939096360961352	0.538
18	55351270	T	C	18	57684038	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.A1628G:p.D543G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.A1628G:p.D543G;ENSG00000081923:ENST00000536015:exon15:c.A1628G:p.D543G;	0.38493396019978	0.398
18	55351270	T	G	18	57684038	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.A1628C:p.D543A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon14:c.A1628C:p.D543A;ENSG00000081923:ENST00000536015:exon15:c.A1628C:p.D543A;	0.331745187984629	0.426
18	55351423	T	A	18	57684191	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.A1475T:p.Q492L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon3:c.A203T:p.Q68L;ENSG00000081923:ENST00000283684:exon14:c.A1475T:p.Q492L;ENSG00000081923:ENST00000536015:exon15:c.A1475T:p.Q492L;	6.11097964345234E-5	0.002
18	55351423	T	C	18	57684191	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.A1475G:p.Q492R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon3:c.A203G:p.Q68R;ENSG00000081923:ENST00000283684:exon14:c.A1475G:p.Q492R;ENSG00000081923:ENST00000536015:exon15:c.A1475G:p.Q492R;	7.96936927670838E-5	0.008
18	55351423	T	G	18	57684191	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.A1475C:p.Q492P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon3:c.A203C:p.Q68P;ENSG00000081923:ENST00000283684:exon14:c.A1475C:p.Q492P;ENSG00000081923:ENST00000536015:exon15:c.A1475C:p.Q492P;	1.59668238787282E-5	0.008
18	55351424	G	A	18	57684192	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon15:c.C1474T:p.Q492X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000588255:exon3:c.C202T:p.Q68X;ENSG00000081923:ENST00000283684:exon14:c.C1474T:p.Q492X;ENSG00000081923:ENST00000536015:exon15:c.C1474T:p.Q492X;	0.340761208647796	0.412
18	55351424	G	C	18	57684192	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.C1474G:p.Q492E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon3:c.C202G:p.Q68E;ENSG00000081923:ENST00000283684:exon14:c.C1474G:p.Q492E;ENSG00000081923:ENST00000536015:exon15:c.C1474G:p.Q492E;	3.67149933720947E-4	0.214
18	55351424	G	T	18	57684192	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon15:c.C1474A:p.Q492K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon3:c.C202A:p.Q68K;ENSG00000081923:ENST00000283684:exon14:c.C1474A:p.Q492K;ENSG00000081923:ENST00000536015:exon15:c.C1474A:p.Q492K;	3.18069228161924E-4	0.0
18	55351425	C	A	18	57684193	y	y	splicing	ATP8B1(NM_005603:exon16:c.1474-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1474-1G>T;ENST00000536015:exon16:c.1474-1G>T;ENST00000588255:exon4:c.202-1G>T)	.	.	0.999986675681007	0.934
18	55351425	C	G	18	57684193	y	y	splicing	ATP8B1(NM_005603:exon16:c.1474-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1474-1G>C;ENST00000536015:exon16:c.1474-1G>C;ENST00000588255:exon4:c.202-1G>C)	.	.	0.999986675681007	0.934
18	55351425	C	T	18	57684193	y	y	splicing	ATP8B1(NM_005603:exon16:c.1474-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1474-1G>A;ENST00000536015:exon16:c.1474-1G>A;ENST00000588255:exon4:c.202-1G>A)	.	.	0.999986675681007	0.934
18	55351426	T	A	18	57684194	y	y	splicing	ATP8B1(NM_005603:exon16:c.1474-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1474-2A>T;ENST00000536015:exon16:c.1474-2A>T;ENST00000588255:exon4:c.202-2A>T)	.	.	0.999988247793601	0.928
18	55351426	T	C	18	57684194	y	y	splicing	ATP8B1(NM_005603:exon16:c.1474-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1474-2A>G;ENST00000536015:exon16:c.1474-2A>G;ENST00000588255:exon4:c.202-2A>G)	.	.	0.999988247793601	0.928
18	55351426	T	G	18	57684194	y	y	splicing	ATP8B1(NM_005603:exon16:c.1474-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon15:c.1474-2A>C;ENST00000536015:exon16:c.1474-2A>C;ENST00000588255:exon4:c.202-2A>C)	.	.	0.999988247793601	0.928
18	55351427	G	A	18	57684195	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0435332650177155	0.06
18	55351427	G	C	18	57684195	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999876977756855	0.958
18	55351427	G	T	18	57684195	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.944128262503816	0.746
18	55351428	A	C	18	57684196	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.45993771421165E-5	0.01
18	55351428	A	G	18	57684196	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.24396066270519E-4	0.026
18	55351428	A	T	18	57684196	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.70282262969151E-4	0.054
18	55351429	A	C	18	57684197	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.845510048817694	0.528
18	55351429	A	G	18	57684197	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0593952439078079	0.218
18	55351429	A	T	18	57684197	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.637911748831158	0.546
18	55351430	A	C	18	57684198	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0510698794086201	0.174
18	55351430	A	G	18	57684198	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.10504431300364E-4	0.01
18	55351430	A	T	18	57684198	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0884259866768876	0.174
18	55351431	G	A	18	57684199	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00117806497836953	0.042
18	55351431	G	C	18	57684199	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0151560512015532	0.066
18	55351431	G	T	18	57684199	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0261676902655877	0.06
18	55351432	A	C	18	57684200	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00238106799271011	0.148
18	55351432	A	G	18	57684200	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.13046504900753E-4	0.018
18	55351432	A	T	18	57684200	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00158998131747922	0.078
18	55351433	A	C	18	57684201	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0124533189327643	0.138
18	55351433	A	G	18	57684201	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.06864972484422E-4	0.062
18	55351433	A	T	18	57684201	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00214600935337567	0.17
18	55351434	A	C	18	57684202	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999938110560092	0.922
18	55351434	A	G	18	57684202	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.51329069257592E-4	0.002
18	55351434	A	T	18	57684202	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.54170447433559E-4	0.068
18	55351435	T	A	18	57684203	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.31378247454735E-5	0.032
18	55351435	T	C	18	57684203	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.90964385597371E-5	0.004
18	55351435	T	G	18	57684203	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.44149590031716E-6	0.0
18	55351436	G	A	18	57684204	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.52846510628033E-5	0.0
18	55351436	G	C	18	57684204	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.06724473322785E-4	0.014
18	55351436	G	T	18	57684204	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.79454215809607E-4	0.014
18	55352296	G	A	18	57685064	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.66426746904339E-5	0.0
18	55352296	G	C	18	57685064	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.34211652718481E-5	0.0
18	55352296	G	T	18	57685064	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.66426746904339E-5	0.0
18	55352297	G	A	18	57685065	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.29742067907464E-5	0.0
18	55352297	G	C	18	57685065	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.18924664478357E-5	0.0
18	55352297	G	T	18	57685065	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.18924664478357E-5	0.0
18	55352298	T	A	18	57685066	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.16427556116979E-5	0.004
18	55352298	T	C	18	57685066	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.5637495765536E-5	0.004
18	55352298	T	G	18	57685066	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.59443933461964E-5	0.008
18	55352299	C	A	18	57685067	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.633974614611446	0.434
18	55352299	C	G	18	57685067	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.676628217230349	0.484
18	55352299	C	T	18	57685067	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.782276376333059	0.548
18	55352300	T	A	18	57685068	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0278083508429789	0.354
18	55352300	T	C	18	57685068	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0680606114935003	0.362
18	55352300	T	G	18	57685068	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0246155776144623	0.302
18	55352301	T	A	18	57685069	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.695090068552122	0.488
18	55352301	T	C	18	57685069	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00165485434960985	0.08
18	55352301	T	G	18	57685069	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.632246549483513	0.496
18	55352302	A	C	18	57685070	y	y	splicing	ATP8B1(NM_005603:exon15:c.1473+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1473+2T>G;ENST00000536015:exon15:c.1473+2T>G;ENST00000588255:exon3:c.201+2T>G)	.	.	0.99994568797423	0.944
18	55352302	A	G	18	57685070	y	y	splicing	ATP8B1(NM_005603:exon15:c.1473+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1473+2T>C;ENST00000536015:exon15:c.1473+2T>C;ENST00000588255:exon3:c.201+2T>C)	.	.	0.952527091078767	0.652
18	55352302	A	T	18	57685070	y	y	splicing	ATP8B1(NM_005603:exon15:c.1473+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1473+2T>A;ENST00000536015:exon15:c.1473+2T>A;ENST00000588255:exon3:c.201+2T>A)	.	.	0.99994568797423	0.94
18	55352303	C	A	18	57685071	y	y	splicing	ATP8B1(NM_005603:exon15:c.1473+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1473+1G>T;ENST00000536015:exon15:c.1473+1G>T;ENST00000588255:exon3:c.201+1G>T)	.	.	0.99993314117114	0.944
18	55352303	C	G	18	57685071	y	y	splicing	ATP8B1(NM_005603:exon15:c.1473+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1473+1G>C;ENST00000536015:exon15:c.1473+1G>C;ENST00000588255:exon3:c.201+1G>C)	.	.	0.99993314117114	0.944
18	55352303	C	T	18	57685071	y	y	splicing	ATP8B1(NM_005603:exon15:c.1473+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1473+1G>A;ENST00000536015:exon15:c.1473+1G>A;ENST00000588255:exon3:c.201+1G>A)	.	.	0.99993314117114	0.932
18	55352304	C	A	18	57685072	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.G1473T:p.E491D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G201T:p.E67D;ENSG00000081923:ENST00000283684:exon13:c.G1473T:p.E491D;ENSG00000081923:ENST00000536015:exon14:c.G1473T:p.E491D;	0.994142305399255	0.926
18	55352304	C	G	18	57685072	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.G1473C:p.E491D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G201C:p.E67D;ENSG00000081923:ENST00000283684:exon13:c.G1473C:p.E491D;ENSG00000081923:ENST00000536015:exon14:c.G1473C:p.E491D;	0.963209029858469	0.686
18	55352304	C	T	18	57685072	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon14:c.G1473A:p.E491E;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G201A:p.E67E;ENSG00000081923:ENST00000283684:exon13:c.G1473A:p.E491E;ENSG00000081923:ENST00000536015:exon14:c.G1473A:p.E491E;	0.91196831525989	0.89
18	55352305	T	A	18	57685073	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.A1472T:p.E491V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.A200T:p.E67V;ENSG00000081923:ENST00000283684:exon13:c.A1472T:p.E491V;ENSG00000081923:ENST00000536015:exon14:c.A1472T:p.E491V;	0.916982521694592	0.678
18	55352305	T	C	18	57685073	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.A1472G:p.E491G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.A200G:p.E67G;ENSG00000081923:ENST00000283684:exon13:c.A1472G:p.E491G;ENSG00000081923:ENST00000536015:exon14:c.A1472G:p.E491G;	0.98358092301763	0.792
18	55352305	T	G	18	57685073	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.A1472C:p.E491A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.A200C:p.E67A;ENSG00000081923:ENST00000283684:exon13:c.A1472C:p.E491A;ENSG00000081923:ENST00000536015:exon14:c.A1472C:p.E491A;	0.76250716592941	0.674
18	55352306	C	A	18	57685074	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon14:c.G1471T:p.E491X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000588255:exon2:c.G199T:p.E67X;ENSG00000081923:ENST00000283684:exon13:c.G1471T:p.E491X;ENSG00000081923:ENST00000536015:exon14:c.G1471T:p.E491X;	0.980230674920379	0.876
18	55352306	C	G	18	57685074	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.G1471C:p.E491Q;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G199C:p.E67Q;ENSG00000081923:ENST00000283684:exon13:c.G1471C:p.E491Q;ENSG00000081923:ENST00000536015:exon14:c.G1471C:p.E491Q;	0.00354172965436944	0.024
18	55352306	C	T	18	57685074	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.G1471A:p.E491K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G199A:p.E67K;ENSG00000081923:ENST00000283684:exon13:c.G1471A:p.E491K;ENSG00000081923:ENST00000536015:exon14:c.G1471A:p.E491K;	0.00558429376357402	0.074
18	55352346	C	A	18	57685114	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon14:c.G1431T:p.G477G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G159T:p.G53G;ENSG00000081923:ENST00000283684:exon13:c.G1431T:p.G477G;ENSG00000081923:ENST00000536015:exon14:c.G1431T:p.G477G;	5.20983004753281E-5	0.008
18	55352346	C	G	18	57685114	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon14:c.G1431C:p.G477G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G159C:p.G53G;ENSG00000081923:ENST00000283684:exon13:c.G1431C:p.G477G;ENSG00000081923:ENST00000536015:exon14:c.G1431C:p.G477G;	2.31561869192188E-4	0.048
18	55352346	C	T	18	57685114	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon14:c.G1431A:p.G477G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G159A:p.G53G;ENSG00000081923:ENST00000283684:exon13:c.G1431A:p.G477G;ENSG00000081923:ENST00000536015:exon14:c.G1431A:p.G477G;	5.74009892262406E-4	0.058
18	55352347	C	A	18	57685115	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.G1430T:p.G477V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G158T:p.G53V;ENSG00000081923:ENST00000283684:exon13:c.G1430T:p.G477V;ENSG00000081923:ENST00000536015:exon14:c.G1430T:p.G477V;	0.999624187527084	0.892
18	55352347	C	G	18	57685115	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.G1430C:p.G477A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G158C:p.G53A;ENSG00000081923:ENST00000283684:exon13:c.G1430C:p.G477A;ENSG00000081923:ENST00000536015:exon14:c.G1430C:p.G477A;	0.999550496948474	0.868
18	55352347	C	T	18	57685115	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon14:c.G1430A:p.G477E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon2:c.G158A:p.G53E;ENSG00000081923:ENST00000283684:exon13:c.G1430A:p.G477E;ENSG00000081923:ENST00000536015:exon14:c.G1430A:p.G477E;	0.996455204889833	0.862
18	55352348	C	A	18	57685116	y	y	splicing	ATP8B1(NM_005603:exon15:c.1430-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1430-1G>T;ENST00000536015:exon15:c.1430-1G>T;ENST00000588255:exon3:c.158-1G>T)	.	.	0.999985532734767	0.936
18	55352348	C	G	18	57685116	y	y	splicing	ATP8B1(NM_005603:exon15:c.1430-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1430-1G>C;ENST00000536015:exon15:c.1430-1G>C;ENST00000588255:exon3:c.158-1G>C)	.	.	0.999985532734767	0.936
18	55352348	C	T	18	57685116	y	y	splicing	ATP8B1(NM_005603:exon15:c.1430-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1430-1G>A;ENST00000536015:exon15:c.1430-1G>A;ENST00000588255:exon3:c.158-1G>A)	.	.	0.999985532734767	0.936
18	55352349	T	A	18	57685117	y	y	splicing	ATP8B1(NM_005603:exon15:c.1430-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1430-2A>T;ENST00000536015:exon15:c.1430-2A>T;ENST00000588255:exon3:c.158-2A>T)	.	.	0.999988247793601	0.928
18	55352349	T	C	18	57685117	y	y	splicing	ATP8B1(NM_005603:exon15:c.1430-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1430-2A>G;ENST00000536015:exon15:c.1430-2A>G;ENST00000588255:exon3:c.158-2A>G)	.	.	0.999988247793601	0.928
18	55352349	T	G	18	57685117	y	y	splicing	ATP8B1(NM_005603:exon15:c.1430-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon14:c.1430-2A>C;ENST00000536015:exon15:c.1430-2A>C;ENST00000588255:exon3:c.158-2A>C)	.	.	0.999988247793601	0.928
18	55352350	G	A	18	57685118	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00252358490489446	0.066
18	55352350	G	C	18	57685118	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999931309956139	0.92
18	55352350	G	T	18	57685118	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.474963174557324	0.306
18	55352351	A	C	18	57685119	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.10936722561667E-5	0.012
18	55352351	A	G	18	57685119	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.2004648441139E-4	0.01
18	55352351	A	T	18	57685119	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.15913414535163E-4	0.02
18	55352352	G	A	18	57685120	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.30979777230248E-5	0.004
18	55352352	G	C	18	57685120	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00234650830877831	0.186
18	55352352	G	T	18	57685120	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.70067527523372E-4	0.088
18	55352353	A	C	18	57685121	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.724799760886886	0.736
18	55352353	A	G	18	57685121	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.60872438254641E-4	0.006
18	55352353	A	T	18	57685121	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.645916063260906	0.69
18	55352354	A	C	18	57685122	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.119398323804808	0.304
18	55352354	A	G	18	57685122	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00294597994126201	0.03
18	55352354	A	T	18	57685122	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.389450866180774	0.46
18	55352355	A	C	18	57685123	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.60321531672808E-4	0.132
18	55352355	A	G	18	57685123	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.49056022452113E-4	0.018
18	55352355	A	T	18	57685123	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0108826755984927	0.21
18	55352356	C	A	18	57685124	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.2500947210227E-5	0.062
18	55352356	C	G	18	57685124	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.35312217290616E-6	0.044
18	55352356	C	T	18	57685124	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.54974746983502E-5	0.038
18	55352357	A	C	18	57685125	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.663665213657663	0.628
18	55352357	A	G	18	57685125	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00236775615348371	0.04
18	55352357	A	T	18	57685125	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999651037438843	0.922
18	55352358	A	C	18	57685126	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.521853992358434	0.508
18	55352358	A	G	18	57685126	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.130783899321942	0.154
18	55352358	A	T	18	57685126	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.723124849906925	0.634
18	55352359	A	C	18	57685127	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.386330490332798	0.538
18	55352359	A	G	18	57685127	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00172538172621704	0.06
18	55352359	A	T	18	57685127	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.505718867397198	0.558
18	55355523	C	A	18	57688291	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.57433997592769E-5	0.01
18	55355523	C	G	18	57688291	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.61714773163793E-5	0.014
18	55355523	C	T	18	57688291	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.25602062282029E-5	0.01
18	55355524	C	A	18	57688292	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.25679263643157E-4	0.008
18	55355524	C	G	18	57688292	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.28579615503235E-4	0.008
18	55355524	C	T	18	57688292	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.84107209686333E-4	0.008
18	55355525	A	C	18	57688293	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00152656802610526	0.17
18	55355525	A	G	18	57688293	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0106166503789778	0.224
18	55355525	A	T	18	57688293	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00961562068091067	0.208
18	55355526	C	A	18	57688294	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999928805738392	0.944
18	55355526	C	G	18	57688294	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999933513738454	0.83
18	55355526	C	T	18	57688294	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999913249136895	0.922
18	55355527	T	A	18	57688295	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.354963263249348	0.478
18	55355527	T	C	18	57688295	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.261430558093679	0.498
18	55355527	T	G	18	57688295	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.277234196324196	0.31
18	55355528	T	A	18	57688296	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.911912240697515	0.64
18	55355528	T	C	18	57688296	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00180932154265886	0.084
18	55355528	T	G	18	57688296	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.985348555058621	0.688
18	55355529	A	C	18	57688297	y	y	splicing	ATP8B1(NM_005603:exon14:c.1429+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1429+2T>G;ENST00000536015:exon14:c.1429+2T>G;ENST00000588255:exon2:c.157+2T>G)	.	.	0.999988247793601	0.93
18	55355529	A	G	18	57688297	y	y	splicing	ATP8B1(NM_005603:exon14:c.1429+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1429+2T>C;ENST00000536015:exon14:c.1429+2T>C;ENST00000588255:exon2:c.157+2T>C)	.	.	0.99231226973403	0.692
18	55355529	A	T	18	57688297	y	y	splicing	ATP8B1(NM_005603:exon14:c.1429+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1429+2T>A;ENST00000536015:exon14:c.1429+2T>A;ENST00000588255:exon2:c.157+2T>A)	.	.	0.999988247793601	0.93
18	55355530	C	A	18	57688298	y	y	splicing	ATP8B1(NM_005603:exon14:c.1429+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1429+1G>T;ENST00000536015:exon14:c.1429+1G>T;ENST00000588255:exon2:c.157+1G>T)	.	.	0.999990361384395	0.936
18	55355530	C	G	18	57688298	y	y	splicing	ATP8B1(NM_005603:exon14:c.1429+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1429+1G>C;ENST00000536015:exon14:c.1429+1G>C;ENST00000588255:exon2:c.157+1G>C)	.	.	0.999990361384395	0.936
18	55355530	C	T	18	57688298	y	y	splicing	ATP8B1(NM_005603:exon14:c.1429+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1429+1G>A;ENST00000536015:exon14:c.1429+1G>A;ENST00000588255:exon2:c.157+1G>A)	.	.	0.999990361384395	0.936
18	55355531	C	A	18	57688299	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.G1429T:p.G477W;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon1:c.G157T:p.G53W;ENSG00000081923:ENST00000283684:exon12:c.G1429T:p.G477W;ENSG00000081923:ENST00000536015:exon13:c.G1429T:p.G477W;	0.99980349171996	0.956
18	55355531	C	G	18	57688299	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.G1429C:p.G477R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon1:c.G157C:p.G53R;ENSG00000081923:ENST00000283684:exon12:c.G1429C:p.G477R;ENSG00000081923:ENST00000536015:exon13:c.G1429C:p.G477R;	0.999934734443713	0.956
18	55355531	C	T	18	57688299	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.G1429A:p.G477R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon1:c.G157A:p.G53R;ENSG00000081923:ENST00000283684:exon12:c.G1429A:p.G477R;ENSG00000081923:ENST00000536015:exon13:c.G1429A:p.G477R;	0.999960675582474	0.976
18	55355532	A	C	18	57688300	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon13:c.T1428G:p.Y476X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000588255:exon1:c.T156G:p.Y52X;ENSG00000081923:ENST00000283684:exon12:c.T1428G:p.Y476X;ENSG00000081923:ENST00000536015:exon13:c.T1428G:p.Y476X;	9.72570144408712E-5	0.166
18	55355532	A	G	18	57688300	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon13:c.T1428C:p.Y476Y;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000588255:exon1:c.T156C:p.Y52Y;ENSG00000081923:ENST00000283684:exon12:c.T1428C:p.Y476Y;ENSG00000081923:ENST00000536015:exon13:c.T1428C:p.Y476Y;	1.40498323513301E-5	0.004
18	55355532	A	T	18	57688300	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon13:c.T1428A:p.Y476X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000588255:exon1:c.T156A:p.Y52X;ENSG00000081923:ENST00000283684:exon12:c.T1428A:p.Y476X;ENSG00000081923:ENST00000536015:exon13:c.T1428A:p.Y476X;	3.74497367175108E-5	0.258
18	55355533	T	A	18	57688301	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.A1427T:p.Y476F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon1:c.A155T:p.Y52F;ENSG00000081923:ENST00000283684:exon12:c.A1427T:p.Y476F;ENSG00000081923:ENST00000536015:exon13:c.A1427T:p.Y476F;	0.981462657090644	0.602
18	55355533	T	C	18	57688301	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.A1427G:p.Y476C;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon1:c.A155G:p.Y52C;ENSG00000081923:ENST00000283684:exon12:c.A1427G:p.Y476C;ENSG00000081923:ENST00000536015:exon13:c.A1427G:p.Y476C;	0.466979121407246	0.406
18	55355533	T	G	18	57688301	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.A1427C:p.Y476S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000588255:exon1:c.A155C:p.Y52S;ENSG00000081923:ENST00000283684:exon12:c.A1427C:p.Y476S;ENSG00000081923:ENST00000536015:exon13:c.A1427C:p.Y476S;	0.81878203752846	0.558
18	55355738	C	A	18	57688506	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.G1222T:p.V408L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon12:c.G1222T:p.V408L;ENSG00000081923:ENST00000536015:exon13:c.G1222T:p.V408L;	0.983519310043155	0.87
18	55355738	C	G	18	57688506	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.G1222C:p.V408L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon12:c.G1222C:p.V408L;ENSG00000081923:ENST00000536015:exon13:c.G1222C:p.V408L;	0.982630414263215	0.88
18	55355738	C	T	18	57688506	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.G1222A:p.V408M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon12:c.G1222A:p.V408M;ENSG00000081923:ENST00000536015:exon13:c.G1222A:p.V408M;	0.976840170571495	0.864
18	55355739	G	A	18	57688507	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon13:c.C1221T:p.S407S;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon12:c.C1221T:p.S407S;ENSG00000081923:ENST00000536015:exon13:c.C1221T:p.S407S;	8.01422265763844E-5	0.038
18	55355739	G	C	18	57688507	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.C1221G:p.S407R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon12:c.C1221G:p.S407R;ENSG00000081923:ENST00000536015:exon13:c.C1221G:p.S407R;	1.20315476842755E-4	0.18
18	55355739	G	T	18	57688507	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon13:c.C1221A:p.S407R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon12:c.C1221A:p.S407R;ENSG00000081923:ENST00000536015:exon13:c.C1221A:p.S407R;	3.31226619335385E-5	0.138
18	55355740	C	A	18	57688508	y	y	splicing	ATP8B1(NM_005603:exon14:c.1221-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1221-1G>T;ENST00000536015:exon14:c.1221-1G>T)	.	.	0.999985532734767	0.936
18	55355740	C	G	18	57688508	y	y	splicing	ATP8B1(NM_005603:exon14:c.1221-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1221-1G>C;ENST00000536015:exon14:c.1221-1G>C)	.	.	0.999985532734767	0.936
18	55355740	C	T	18	57688508	y	y	splicing	ATP8B1(NM_005603:exon14:c.1221-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1221-1G>A;ENST00000536015:exon14:c.1221-1G>A)	.	.	0.999985532734767	0.936
18	55355741	T	A	18	57688509	y	y	splicing	ATP8B1(NM_005603:exon14:c.1221-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1221-2A>T;ENST00000536015:exon14:c.1221-2A>T)	.	.	0.999988247793601	0.928
18	55355741	T	C	18	57688509	y	y	splicing	ATP8B1(NM_005603:exon14:c.1221-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1221-2A>G;ENST00000536015:exon14:c.1221-2A>G)	.	.	0.999988247793601	0.928
18	55355741	T	G	18	57688509	y	y	splicing	ATP8B1(NM_005603:exon14:c.1221-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon13:c.1221-2A>C;ENST00000536015:exon14:c.1221-2A>C)	.	.	0.999988247793601	0.928
18	55355742	A	C	18	57688510	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.998860809430531	0.77
18	55355742	A	G	18	57688510	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	1.24007794724981E-4	0.0
18	55355742	A	T	18	57688510	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.0660943032668977	0.358
18	55355743	G	A	18	57688511	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	9.49626056810865E-4	0.046
18	55355743	G	C	18	57688511	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.00172353869394104	0.03
18	55355743	G	T	18	57688511	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	8.49330737737013E-4	0.032
18	55355744	G	A	18	57688512	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	6.15822786482122E-5	0.002
18	55355744	G	C	18	57688512	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	6.66017935659319E-4	0.098
18	55355744	G	T	18	57688512	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	7.57533133296521E-4	0.078
18	55355745	A	C	18	57688513	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.00151154192677676	0.146
18	55355745	A	G	18	57688513	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	3.4541411964556E-5	0.106
18	55355745	A	T	18	57688513	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.00165458233629094	0.11
18	55355746	A	C	18	57688514	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.00119881523556326	0.054
18	55355746	A	G	18	57688514	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	6.83460840959444E-5	0.0
18	55355746	A	T	18	57688514	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.0225398279143765	0.12
18	55355747	G	A	18	57688515	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	2.59096065420473E-4	0.138
18	55355747	G	C	18	57688515	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.0101426156371262	0.086
18	55355747	G	T	18	57688515	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.0193035824198608	0.094
18	55355748	A	C	18	57688516	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.019020117312354	0.186
18	55355748	A	G	18	57688516	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.00360947860118605	0.09
18	55355748	A	T	18	57688516	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.0514387824679327	0.186
18	55355749	C	A	18	57688517	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	1.21000057860076E-4	0.014
18	55355749	C	G	18	57688517	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	1.74736451098341E-4	0.004
18	55355749	C	T	18	57688517	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	1.24484441680608E-4	0.018
18	55355750	A	C	18	57688518	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.985310103218927	0.736
18	55355750	A	G	18	57688518	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.781848260076635	0.484
18	55355750	A	T	18	57688518	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	0.999969811492099	0.982
18	55355751	G	A	18	57688519	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	4.86709070811134E-5	0.068
18	55355751	G	C	18	57688519	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	1.08448641014735E-4	0.11
18	55355751	G	T	18	57688519	y	y	intronic	ATP8B1	.	.	ncRNA_UTR5	ENSG00000081923	.	.	7.75680318492455E-4	0.074
18	55359031	A	C	18	57691799	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.04821762665085E-5	0.0
18	55359031	A	G	18	57691799	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.15941453541388E-5	0.0
18	55359031	A	T	18	57691799	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.04821762665085E-5	0.0
18	55359032	G	A	18	57691800	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.75928437353356E-5	0.0
18	55359032	G	C	18	57691800	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.75928437353356E-5	0.0
18	55359032	G	T	18	57691800	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.48165531379462E-5	0.002
18	55359033	C	A	18	57691801	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.83056438740356E-5	0.002
18	55359033	C	G	18	57691801	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.99618300071847E-5	0.004
18	55359033	C	T	18	57691801	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.74390340498385E-5	0.002
18	55359034	C	A	18	57691802	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.712872257861867	0.432
18	55359034	C	G	18	57691802	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.524717851082653	0.386
18	55359034	C	T	18	57691802	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.497970514651195	0.434
18	55359035	T	A	18	57691803	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.166889911057724	0.424
18	55359035	T	C	18	57691803	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.546659140563348	0.442
18	55359035	T	G	18	57691803	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.119415667400343	0.38
18	55359036	T	A	18	57691804	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.832183406848904	0.536
18	55359036	T	C	18	57691804	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.49456895761238E-4	0.03
18	55359036	T	G	18	57691804	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.911039380132442	0.626
18	55359037	A	C	18	57691805	y	y	splicing	ATP8B1(NM_005603:exon13:c.1220+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1220+2T>G;ENST00000536015:exon13:c.1220+2T>G)	.	.	0.999988247793601	0.93
18	55359037	A	G	18	57691805	y	y	splicing	ATP8B1(NM_005603:exon13:c.1220+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1220+2T>C;ENST00000536015:exon13:c.1220+2T>C)	.	.	0.994063255842726	0.692
18	55359037	A	T	18	57691805	y	y	splicing	ATP8B1(NM_005603:exon13:c.1220+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1220+2T>A;ENST00000536015:exon13:c.1220+2T>A)	.	.	0.999988247793601	0.93
18	55359038	C	A	18	57691806	y	y	splicing	ATP8B1(NM_005603:exon13:c.1220+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1220+1G>T;ENST00000536015:exon13:c.1220+1G>T)	.	.	0.999990361384395	0.938
18	55359038	C	G	18	57691806	y	y	splicing	ATP8B1(NM_005603:exon13:c.1220+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1220+1G>C;ENST00000536015:exon13:c.1220+1G>C)	.	.	0.999990361384395	0.938
18	55359038	C	T	18	57691806	y	y	splicing	ATP8B1(NM_005603:exon13:c.1220+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1220+1G>A;ENST00000536015:exon13:c.1220+1G>A)	.	.	0.999990361384395	0.938
18	55359039	C	A	18	57691807	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.G1220T:p.S407I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.G1220T:p.S407I;ENSG00000081923:ENST00000536015:exon12:c.G1220T:p.S407I;	0.999890420061308	0.974
18	55359039	C	G	18	57691807	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.G1220C:p.S407T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.G1220C:p.S407T;ENSG00000081923:ENST00000536015:exon12:c.G1220C:p.S407T;	0.999963421002766	0.936
18	55359039	C	T	18	57691807	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.G1220A:p.S407N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.G1220A:p.S407N;ENSG00000081923:ENST00000536015:exon12:c.G1220A:p.S407N;	0.999959508542651	0.972
18	55359040	T	A	18	57691808	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.A1219T:p.S407C;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.A1219T:p.S407C;ENSG00000081923:ENST00000536015:exon12:c.A1219T:p.S407C;	0.989402849567474	0.518
18	55359040	T	C	18	57691808	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.A1219G:p.S407G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.A1219G:p.S407G;ENSG00000081923:ENST00000536015:exon12:c.A1219G:p.S407G;	0.99375341671737	0.854
18	55359040	T	G	18	57691808	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.A1219C:p.S407R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.A1219C:p.S407R;ENSG00000081923:ENST00000536015:exon12:c.A1219C:p.S407R;	0.989947463778866	0.782
18	55359041	G	A	18	57691809	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon12:c.C1218T:p.V406V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.C1218T:p.V406V;ENSG00000081923:ENST00000536015:exon12:c.C1218T:p.V406V;	0.19071401216063	0.31
18	55359041	G	C	18	57691809	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon12:c.C1218G:p.V406V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.C1218G:p.V406V;ENSG00000081923:ENST00000536015:exon12:c.C1218G:p.V406V;	0.00456745845070577	0.114
18	55359041	G	T	18	57691809	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon12:c.C1218A:p.V406V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.C1218A:p.V406V;ENSG00000081923:ENST00000536015:exon12:c.C1218A:p.V406V;	0.00723934376630243	0.176
18	55359228	A	C	18	57691996	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.T1031G:p.I344S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.T1031G:p.I344S;ENSG00000081923:ENST00000536015:exon12:c.T1031G:p.I344S;	0.500679463172496	0.496
18	55359228	A	G	18	57691996	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.T1031C:p.I344T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.T1031C:p.I344T;ENSG00000081923:ENST00000536015:exon12:c.T1031C:p.I344T;	0.427226105208919	0.47
18	55359228	A	T	18	57691996	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.T1031A:p.I344N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.T1031A:p.I344N;ENSG00000081923:ENST00000536015:exon12:c.T1031A:p.I344N;	0.696525781530279	0.45
18	55359229	T	A	18	57691997	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.A1030T:p.I344F;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.A1030T:p.I344F;ENSG00000081923:ENST00000536015:exon12:c.A1030T:p.I344F;	0.615738465129969	0.566
18	55359229	T	C	18	57691997	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.A1030G:p.I344V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.A1030G:p.I344V;ENSG00000081923:ENST00000536015:exon12:c.A1030G:p.I344V;	0.711917589403803	0.652
18	55359229	T	G	18	57691997	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon12:c.A1030C:p.I344L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon11:c.A1030C:p.I344L;ENSG00000081923:ENST00000536015:exon12:c.A1030C:p.I344L;	0.70933867696701	0.694
18	55359230	C	A	18	57691998	y	y	splicing	ATP8B1(NM_005603:exon13:c.1030-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1030-1G>T;ENST00000536015:exon13:c.1030-1G>T)	.	.	0.99995545544995	0.944
18	55359230	C	G	18	57691998	y	y	splicing	ATP8B1(NM_005603:exon13:c.1030-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1030-1G>C;ENST00000536015:exon13:c.1030-1G>C)	.	.	0.99995545544995	0.944
18	55359230	C	T	18	57691998	y	y	splicing	ATP8B1(NM_005603:exon13:c.1030-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1030-1G>A;ENST00000536015:exon13:c.1030-1G>A)	.	.	0.99995545544995	0.938
18	55359231	T	A	18	57691999	y	y	splicing	ATP8B1(NM_005603:exon13:c.1030-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1030-2A>T;ENST00000536015:exon13:c.1030-2A>T)	.	.	0.99994568797423	0.948
18	55359231	T	C	18	57691999	y	y	splicing	ATP8B1(NM_005603:exon13:c.1030-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1030-2A>G;ENST00000536015:exon13:c.1030-2A>G)	.	.	0.999946188727699	0.948
18	55359231	T	G	18	57691999	y	y	splicing	ATP8B1(NM_005603:exon13:c.1030-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon12:c.1030-2A>C;ENST00000536015:exon13:c.1030-2A>C)	.	.	0.999946188727699	0.948
18	55359232	A	C	18	57692000	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998437797484795	0.696
18	55359232	A	G	18	57692000	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.48013702280747E-4	0.026
18	55359232	A	T	18	57692000	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0220239702029124	0.218
18	55359233	G	A	18	57692001	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.04560492068056E-5	0.0
18	55359233	G	C	18	57692001	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.0724581113052E-5	0.002
18	55359233	G	T	18	57692001	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.57649105913627E-5	0.0
18	55359234	A	C	18	57692002	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.481318077093873	0.476
18	55359234	A	G	18	57692002	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.012276151707173	0.124
18	55359234	A	T	18	57692002	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.233073571600548	0.498
18	55359235	A	C	18	57692003	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00770374916789348	0.176
18	55359235	A	G	18	57692003	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.00177878681902E-5	0.004
18	55359235	A	T	18	57692003	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0076604477199346	0.1
18	55359236	G	A	18	57692004	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.31227516993098E-4	0.082
18	55359236	G	C	18	57692004	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00804830469055547	0.22
18	55359236	G	T	18	57692004	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00760956656711222	0.25
18	55359237	A	C	18	57692005	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.86131101629613E-4	0.04
18	55359237	A	G	18	57692005	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.43623725640052E-5	0.0
18	55359237	A	T	18	57692005	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00123818109934227	0.06
18	55359238	C	A	18	57692006	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.94432010643579E-5	0.0
18	55359238	C	G	18	57692006	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.30546096737688E-5	0.0
18	55359238	C	T	18	57692006	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.2051122496825E-4	0.002
18	55359239	A	C	18	57692007	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00392680664932205	0.332
18	55359239	A	G	18	57692007	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.8585223564372E-4	0.004
18	55359239	A	T	18	57692007	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999850314778189	0.966
18	55359240	G	A	18	57692008	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.81341106269801E-5	0.018
18	55359240	G	C	18	57692008	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.37477206225738E-5	0.004
18	55359240	G	T	18	57692008	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.52686084543758E-4	0.214
18	55359241	A	C	18	57692009	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.30369799034269E-5	0.058
18	55359241	A	G	18	57692009	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.35576202991502E-5	0.0
18	55359241	A	T	18	57692009	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.37229702468648E-5	0.056
18	55361806	A	C	18	57694574	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00732229910542439	0.218
18	55361806	A	G	18	57694574	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00162834612515865	0.01
18	55361806	A	T	18	57694574	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00239262574373161	0.132
18	55361807	T	A	18	57694575	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00224253621162661	0.244
18	55361807	T	C	18	57694575	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00157732789989177	0.272
18	55361807	T	G	18	57694575	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.81854103960912E-4	0.01
18	55361808	A	C	18	57694576	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00420734301918585	0.288
18	55361808	A	G	18	57694576	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.835467295915797	0.678
18	55361808	A	T	18	57694576	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.156460592730763	0.508
18	55361809	A	C	18	57694577	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.35491990117737E-5	0.002
18	55361809	A	G	18	57694577	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.19896697200697E-5	0.002
18	55361809	A	T	18	57694577	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.71039665053424E-5	0.01
18	55361810	A	C	18	57694578	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.91834395856343E-4	0.048
18	55361810	A	G	18	57694578	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.55617691114508E-4	0.074
18	55361810	A	T	18	57694578	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.85560672805704E-4	0.062
18	55361811	T	A	18	57694579	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999956204276913	0.962
18	55361811	T	C	18	57694579	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999894483520099	0.97
18	55361811	T	G	18	57694579	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999971430141941	0.946
18	55361812	A	C	18	57694580	y	y	splicing	ATP8B1(NM_005603:exon12:c.1029+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.1029+2T>G;ENST00000536015:exon12:c.1029+2T>G)	.	.	0.999988624979899	0.944
18	55361812	A	G	18	57694580	y	y	splicing	ATP8B1(NM_005603:exon12:c.1029+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.1029+2T>C;ENST00000536015:exon12:c.1029+2T>C)	.	.	0.992134260428308	0.64
18	55361812	A	T	18	57694580	y	y	splicing	ATP8B1(NM_005603:exon12:c.1029+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.1029+2T>A;ENST00000536015:exon12:c.1029+2T>A)	.	.	0.999988624979899	0.944
18	55361813	C	A	18	57694581	y	y	splicing	ATP8B1(NM_005603:exon12:c.1029+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.1029+1G>T;ENST00000536015:exon12:c.1029+1G>T)	.	.	0.999979422316293	0.95
18	55361813	C	G	18	57694581	y	y	splicing	ATP8B1(NM_005603:exon12:c.1029+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.1029+1G>C;ENST00000536015:exon12:c.1029+1G>C)	.	.	0.999979422316293	0.95
18	55361813	C	T	18	57694581	y	y	splicing	ATP8B1(NM_005603:exon12:c.1029+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.1029+1G>A;ENST00000536015:exon12:c.1029+1G>A)	.	.	0.999979422316293	0.95
18	55361814	C	A	18	57694582	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon11:c.G1029T:p.T343T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.G1029T:p.T343T;ENSG00000081923:ENST00000536015:exon11:c.G1029T:p.T343T;	0.999947541462303	0.998
18	55361814	C	G	18	57694582	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon11:c.G1029C:p.T343T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.G1029C:p.T343T;ENSG00000081923:ENST00000536015:exon11:c.G1029C:p.T343T;	0.99997284561784	1.0
18	55361814	C	T	18	57694582	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon11:c.G1029A:p.T343T;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.G1029A:p.T343T;ENSG00000081923:ENST00000536015:exon11:c.G1029A:p.T343T;	0.999980844629425	1.0
18	55361815	G	A	18	57694583	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.C1028T:p.T343M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.C1028T:p.T343M;ENSG00000081923:ENST00000536015:exon11:c.C1028T:p.T343M;	0.716663655804981	0.508
18	55361815	G	C	18	57694583	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.C1028G:p.T343R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.C1028G:p.T343R;ENSG00000081923:ENST00000536015:exon11:c.C1028G:p.T343R;	0.975203724774125	0.746
18	55361815	G	T	18	57694583	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.C1028A:p.T343K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.C1028A:p.T343K;ENSG00000081923:ENST00000536015:exon11:c.C1028A:p.T343K;	0.952149676874543	0.68
18	55361816	T	A	18	57694584	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.A1027T:p.T343S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.A1027T:p.T343S;ENSG00000081923:ENST00000536015:exon11:c.A1027T:p.T343S;	0.983782084253878	0.738
18	55361816	T	C	18	57694584	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.A1027G:p.T343A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.A1027G:p.T343A;ENSG00000081923:ENST00000536015:exon11:c.A1027G:p.T343A;	0.141097669013684	0.388
18	55361816	T	G	18	57694584	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.A1027C:p.T343P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.A1027C:p.T343P;ENSG00000081923:ENST00000536015:exon11:c.A1027C:p.T343P;	0.343962791584814	0.502
18	55361901	A	C	18	57694669	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon11:c.T942G:p.G314G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.T942G:p.G314G;ENSG00000081923:ENST00000536015:exon11:c.T942G:p.G314G;	0.0152650950393059	0.182
18	55361901	A	G	18	57694669	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon11:c.T942C:p.G314G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.T942C:p.G314G;ENSG00000081923:ENST00000536015:exon11:c.T942C:p.G314G;	0.0812304059269974	0.188
18	55361901	A	T	18	57694669	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon11:c.T942A:p.G314G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.T942A:p.G314G;ENSG00000081923:ENST00000536015:exon11:c.T942A:p.G314G;	0.054430892380666	0.17
18	55361902	C	A	18	57694670	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.G941T:p.G314V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.G941T:p.G314V;ENSG00000081923:ENST00000536015:exon11:c.G941T:p.G314V;	0.999758562332007	0.996
18	55361902	C	G	18	57694670	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.G941C:p.G314A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.G941C:p.G314A;ENSG00000081923:ENST00000536015:exon11:c.G941C:p.G314A;	0.99949231906671	0.978
18	55361902	C	T	18	57694670	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon11:c.G941A:p.G314D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon10:c.G941A:p.G314D;ENSG00000081923:ENST00000536015:exon11:c.G941A:p.G314D;	0.995286304051149	0.874
18	55361903	C	A	18	57694671	y	y	splicing	ATP8B1(NM_005603:exon12:c.941-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.941-1G>T;ENST00000536015:exon12:c.941-1G>T)	.	.	0.999986675681007	0.932
18	55361903	C	G	18	57694671	y	y	splicing	ATP8B1(NM_005603:exon12:c.941-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.941-1G>C;ENST00000536015:exon12:c.941-1G>C)	.	.	0.999986675681007	0.932
18	55361903	C	T	18	57694671	y	y	splicing	ATP8B1(NM_005603:exon12:c.941-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.941-1G>A;ENST00000536015:exon12:c.941-1G>A)	.	.	0.999986675681007	0.934
18	55361904	T	A	18	57694672	y	y	splicing	ATP8B1(NM_005603:exon12:c.941-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.941-2A>T;ENST00000536015:exon12:c.941-2A>T)	.	.	0.999989378869813	0.756
18	55361904	T	C	18	57694672	y	y	splicing	ATP8B1(NM_005603:exon12:c.941-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.941-2A>G;ENST00000536015:exon12:c.941-2A>G)	.	.	0.999989378869813	0.76
18	55361904	T	G	18	57694672	y	y	splicing	ATP8B1(NM_005603:exon12:c.941-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon11:c.941-2A>C;ENST00000536015:exon12:c.941-2A>C)	.	.	0.999989378869813	0.76
18	55361905	G	A	18	57694673	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.20103192092562E-4	0.028
18	55361905	G	C	18	57694673	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.942295975235679	0.778
18	55361905	G	T	18	57694673	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0425724874944565	0.374
18	55361906	A	C	18	57694674	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.07249782030101E-4	0.008
18	55361906	A	G	18	57694674	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.45920834082039E-4	0.064
18	55361906	A	T	18	57694674	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.32330175808981E-4	0.016
18	55361907	A	C	18	57694675	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.624343715029518	0.458
18	55361907	A	G	18	57694675	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.132259969794895	0.174
18	55361907	A	T	18	57694675	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.447745594904584	0.452
18	55361908	A	C	18	57694676	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.11178999470711	0.192
18	55361908	A	G	18	57694676	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00209684532894189	0.042
18	55361908	A	T	18	57694676	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0497525752731726	0.18
18	55361909	A	C	18	57694677	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999047090064839	0.978
18	55361909	A	G	18	57694677	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.16390528428385E-4	0.018
18	55361909	A	T	18	57694677	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.41746145655503E-4	0.024
18	55361910	T	A	18	57694678	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.15884529533419E-5	0.0
18	55361910	T	C	18	57694678	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.29405757193836E-5	0.0
18	55361910	T	G	18	57694678	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.67270994497668E-5	0.0
18	55361911	G	A	18	57694679	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.4076636829412E-5	0.0
18	55361911	G	C	18	57694679	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.43641042993068E-4	0.018
18	55361911	G	T	18	57694679	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.12935879739706E-4	0.01
18	55361912	G	A	18	57694680	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.75696877294982E-5	0.002
18	55361912	G	C	18	57694680	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.30338286601951E-4	0.03
18	55361912	G	T	18	57694680	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.68633843045046E-4	0.03
18	55361913	A	C	18	57694681	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.437430474777909	0.392
18	55361913	A	G	18	57694681	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0460983890552508	0.204
18	55361913	A	T	18	57694681	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.696964453294501	0.496
18	55361914	A	C	18	57694682	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.274900961754708	0.394
18	55361914	A	G	18	57694682	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.170266757736828	0.334
18	55361914	A	T	18	57694682	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.174655290335076	0.394
18	55362395	G	A	18	57695163	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.3649968147279E-5	0.0
18	55362395	G	C	18	57695163	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.23249670489913E-5	0.0
18	55362395	G	T	18	57695163	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.3649968147279E-5	0.0
18	55362396	A	C	18	57695164	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.57368379873993E-6	0.002
18	55362396	A	G	18	57695164	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.57368379873993E-6	0.002
18	55362396	A	T	18	57695164	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.6094151630192E-6	0.0
18	55362397	A	C	18	57695165	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00961413378901805	0.208
18	55362397	A	G	18	57695165	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.107779871033225	0.312
18	55362397	A	T	18	57695165	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0611592234641334	0.31
18	55362398	C	A	18	57695166	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.151892474047838	0.256
18	55362398	C	G	18	57695166	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.203643390971319	0.33
18	55362398	C	T	18	57695166	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.25786940193001	0.28
18	55362399	G	A	18	57695167	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.45870717683504E-5	0.01
18	55362399	G	C	18	57695167	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.77630308527489E-5	0.018
18	55362399	G	T	18	57695167	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.95646087400538E-5	0.024
18	55362400	T	A	18	57695168	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.602306653652565	0.502
18	55362400	T	C	18	57695168	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.40047889869898	0.364
18	55362400	T	G	18	57695168	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.983536598910703	0.7
18	55362401	A	C	18	57695169	y	y	splicing	ATP8B1(NM_005603:exon11:c.940+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.940+2T>G;ENST00000536015:exon11:c.940+2T>G)	.	.	0.999989917668626	0.928
18	55362401	A	G	18	57695169	y	y	splicing	ATP8B1(NM_005603:exon11:c.940+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.940+2T>C;ENST00000536015:exon11:c.940+2T>C)	.	.	0.992535761479193	0.632
18	55362401	A	T	18	57695169	y	y	splicing	ATP8B1(NM_005603:exon11:c.940+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.940+2T>A;ENST00000536015:exon11:c.940+2T>A)	.	.	0.999989917668626	0.928
18	55362402	C	A	18	57695170	y	y	splicing	ATP8B1(NM_005603:exon11:c.940+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.940+1G>T;ENST00000536015:exon11:c.940+1G>T)	.	.	0.999981760802075	0.944
18	55362402	C	G	18	57695170	y	y	splicing	ATP8B1(NM_005603:exon11:c.940+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.940+1G>C;ENST00000536015:exon11:c.940+1G>C)	.	.	0.999981760802075	0.944
18	55362402	C	T	18	57695170	y	y	splicing	ATP8B1(NM_005603:exon11:c.940+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.940+1G>A;ENST00000536015:exon11:c.940+1G>A)	.	.	0.999981760802075	0.944
18	55362403	C	A	18	57695171	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.G940T:p.G314C;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.G940T:p.G314C;ENSG00000081923:ENST00000536015:exon10:c.G940T:p.G314C;	0.999966146540853	0.99
18	55362403	C	G	18	57695171	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.G940C:p.G314R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.G940C:p.G314R;ENSG00000081923:ENST00000536015:exon10:c.G940C:p.G314R;	0.999973364681022	0.96
18	55362403	C	T	18	57695171	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.G940A:p.G314S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.G940A:p.G314S;ENSG00000081923:ENST00000536015:exon10:c.G940A:p.G314S;	0.999938601995018	0.998
18	55362404	T	A	18	57695172	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon10:c.A939T:p.A313A;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.A939T:p.A313A;ENSG00000081923:ENST00000536015:exon10:c.A939T:p.A313A;	0.994059682888067	0.92
18	55362404	T	C	18	57695172	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon10:c.A939G:p.A313A;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.A939G:p.A313A;ENSG00000081923:ENST00000536015:exon10:c.A939G:p.A313A;	0.991693789150328	0.942
18	55362404	T	G	18	57695172	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon10:c.A939C:p.A313A;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.A939C:p.A313A;ENSG00000081923:ENST00000536015:exon10:c.A939C:p.A313A;	0.984105676513496	0.888
18	55362405	G	A	18	57695173	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.C938T:p.A313V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.C938T:p.A313V;ENSG00000081923:ENST00000536015:exon10:c.C938T:p.A313V;	0.996831979058012	0.892
18	55362405	G	C	18	57695173	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.C938G:p.A313G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.C938G:p.A313G;ENSG00000081923:ENST00000536015:exon10:c.C938G:p.A313G;	0.833452187724835	0.606
18	55362405	G	T	18	57695173	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.C938A:p.A313E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.C938A:p.A313E;ENSG00000081923:ENST00000536015:exon10:c.C938A:p.A313E;	0.940365945545554	0.798
18	55362560	A	C	18	57695328	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon10:c.T783G:p.G261G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.T783G:p.G261G;ENSG00000081923:ENST00000536015:exon10:c.T783G:p.G261G;	2.11178741564876E-4	0.064
18	55362560	A	G	18	57695328	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon10:c.T783C:p.G261G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.T783C:p.G261G;ENSG00000081923:ENST00000536015:exon10:c.T783C:p.G261G;	0.00134178677668994	0.072
18	55362560	A	T	18	57695328	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon10:c.T783A:p.G261G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.T783A:p.G261G;ENSG00000081923:ENST00000536015:exon10:c.T783A:p.G261G;	3.01983526521275E-4	0.072
18	55362561	C	A	18	57695329	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.G782T:p.G261V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.G782T:p.G261V;ENSG00000081923:ENST00000536015:exon10:c.G782T:p.G261V;	0.999899701907053	0.96
18	55362561	C	G	18	57695329	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.G782C:p.G261A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.G782C:p.G261A;ENSG00000081923:ENST00000536015:exon10:c.G782C:p.G261A;	0.988731121754471	0.664
18	55362561	C	T	18	57695329	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon10:c.G782A:p.G261D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon9:c.G782A:p.G261D;ENSG00000081923:ENST00000536015:exon10:c.G782A:p.G261D;	0.999678119485967	0.876
18	55362562	C	A	18	57695330	y	y	splicing	ATP8B1(NM_005603:exon11:c.782-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.782-1G>T;ENST00000536015:exon11:c.782-1G>T)	.	.	0.999974785031454	0.874
18	55362562	C	G	18	57695330	y	y	splicing	ATP8B1(NM_005603:exon11:c.782-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.782-1G>C;ENST00000536015:exon11:c.782-1G>C)	.	.	0.999974785031454	0.878
18	55362562	C	T	18	57695330	y	y	splicing	ATP8B1(NM_005603:exon11:c.782-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.782-1G>A;ENST00000536015:exon11:c.782-1G>A)	.	.	0.999974785031454	0.89
18	55362563	T	A	18	57695331	y	y	splicing	ATP8B1(NM_005603:exon11:c.782-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.782-2A>T;ENST00000536015:exon11:c.782-2A>T)	.	.	0.999971317418422	0.924
18	55362563	T	C	18	57695331	y	y	splicing	ATP8B1(NM_005603:exon11:c.782-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.782-2A>G;ENST00000536015:exon11:c.782-2A>G)	.	.	0.999971317418422	0.922
18	55362563	T	G	18	57695331	y	y	splicing	ATP8B1(NM_005603:exon11:c.782-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon10:c.782-2A>C;ENST00000536015:exon11:c.782-2A>C)	.	.	0.999971317418422	0.922
18	55362564	T	A	18	57695332	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.42457583473266E-5	0.024
18	55362564	T	C	18	57695332	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.39283340735158	0.652
18	55362564	T	G	18	57695332	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.75802341338436E-5	0.126
18	55362565	T	A	18	57695333	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.41218523345685E-5	0.05
18	55362565	T	C	18	57695333	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.997488485290184	0.678
18	55362565	T	G	18	57695333	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.5651737892501E-4	0.31
18	55362566	T	A	18	57695334	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.34013519504409E-5	0.024
18	55362566	T	C	18	57695334	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.30856517147779E-4	0.354
18	55362566	T	G	18	57695334	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.15519556526117E-5	0.026
18	55362567	A	C	18	57695335	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0578684034860018	0.424
18	55362567	A	G	18	57695335	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.27247588558003E-5	0.012
18	55362567	A	T	18	57695335	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00391324576038684	0.416
18	55362568	A	C	18	57695336	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.153807799417564	0.54
18	55362568	A	G	18	57695336	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.73245411891331E-5	0.046
18	55362568	A	T	18	57695336	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0711985810300463	0.47
18	55362569	A	C	18	57695337	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0752023743804762	0.462
18	55362569	A	G	18	57695337	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.16914679527189E-5	0.006
18	55362569	A	T	18	57695337	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0958171768054407	0.446
18	55362570	A	C	18	57695338	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0104196426111822	0.296
18	55362570	A	G	18	57695338	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.67894068015852E-4	0.032
18	55362570	A	T	18	57695338	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00817265437458979	0.292
18	55362571	A	C	18	57695339	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999637333162634	0.952
18	55362571	A	G	18	57695339	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.00845955184132E-4	0.062
18	55362571	A	T	18	57695339	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.289684172292008	0.434
18	55362572	T	A	18	57695340	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.42274731118846E-5	0.04
18	55362572	T	C	18	57695340	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.67765417225171E-5	0.006
18	55362572	T	G	18	57695340	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.36316954341012E-5	0.012
18	55362573	A	C	18	57695341	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99989382502458	0.96
18	55362573	A	G	18	57695341	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.81075303026848E-4	0.118
18	55362573	A	T	18	57695341	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.22112080845489	0.494
18	55362674	G	A	18	57695442	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.17345616249069E-5	0.0
18	55362674	G	C	18	57695442	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.48160450576323E-4	0.008
18	55362674	G	T	18	57695442	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.48160450576323E-4	0.01
18	55362675	T	A	18	57695443	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.03132170131128E-5	0.034
18	55362675	T	C	18	57695443	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.0141694968842E-5	0.024
18	55362675	T	G	18	57695443	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.08009652906314E-5	0.002
18	55362676	A	C	18	57695444	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.985027609956804	0.76
18	55362676	A	G	18	57695444	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.995382969219087	0.82
18	55362676	A	T	18	57695444	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.989006434408181	0.678
18	55362677	C	A	18	57695445	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999980432842607	0.964
18	55362677	C	G	18	57695445	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999980432842607	0.962
18	55362677	C	T	18	57695445	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999963290962582	0.976
18	55362678	A	C	18	57695446	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.5668689532414E-5	0.024
18	55362678	A	G	18	57695446	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00142837613892748	0.12
18	55362678	A	T	18	57695446	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.08726775109562E-4	0.064
18	55362679	A	C	18	57695447	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.11677361171727E-6	0.03
18	55362679	A	G	18	57695447	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00196168829823574	0.12
18	55362679	A	T	18	57695447	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.1387671646012E-5	0.006
18	55362680	A	C	18	57695448	y	y	splicing	ATP8B1(NM_005603:exon10:c.781+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.781+2T>G;ENST00000536015:exon10:c.781+2T>G)	.	.	0.999954785339841	0.912
18	55362680	A	G	18	57695448	y	y	splicing	ATP8B1(NM_005603:exon10:c.781+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.781+2T>C;ENST00000536015:exon10:c.781+2T>C)	.	.	0.999496472458276	0.914
18	55362680	A	T	18	57695448	y	y	splicing	ATP8B1(NM_005603:exon10:c.781+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.781+2T>A;ENST00000536015:exon10:c.781+2T>A)	.	.	0.999954785339841	0.904
18	55362681	C	A	18	57695449	y	y	splicing	ATP8B1(NM_005603:exon10:c.781+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.781+1G>T;ENST00000536015:exon10:c.781+1G>T)	.	.	0.999982627682474	0.906
18	55362681	C	G	18	57695449	y	y	splicing	ATP8B1(NM_005603:exon10:c.781+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.781+1G>C;ENST00000536015:exon10:c.781+1G>C)	.	.	0.999982627682474	0.906
18	55362681	C	T	18	57695449	y	y	splicing	ATP8B1(NM_005603:exon10:c.781+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.781+1G>A;ENST00000536015:exon10:c.781+1G>A)	.	.	0.999982627682474	0.906
18	55362682	C	A	18	57695450	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.G781T:p.G261C;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.G781T:p.G261C;ENSG00000081923:ENST00000536015:exon9:c.G781T:p.G261C;	0.999967138568286	0.962
18	55362682	C	G	18	57695450	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.G781C:p.G261R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.G781C:p.G261R;ENSG00000081923:ENST00000536015:exon9:c.G781C:p.G261R;	0.999987508629115	0.982
18	55362682	C	T	18	57695450	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.G781A:p.G261S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.G781A:p.G261S;ENSG00000081923:ENST00000536015:exon9:c.G781A:p.G261S;	0.999984211386557	0.99
18	55362683	A	C	18	57695451	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.T780G:p.D260E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.T780G:p.D260E;ENSG00000081923:ENST00000536015:exon9:c.T780G:p.D260E;	0.00836080680479765	0.392
18	55362683	A	G	18	57695451	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon9:c.T780C:p.D260D;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.T780C:p.D260D;ENSG00000081923:ENST00000536015:exon9:c.T780C:p.D260D;	0.001451192466599	0.222
18	55362683	A	T	18	57695451	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.T780A:p.D260E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.T780A:p.D260E;ENSG00000081923:ENST00000536015:exon9:c.T780A:p.D260E;	0.00383427080675402	0.504
18	55362684	T	A	18	57695452	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.A779T:p.D260V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.A779T:p.D260V;ENSG00000081923:ENST00000536015:exon9:c.A779T:p.D260V;	0.99764601076605	0.858
18	55362684	T	C	18	57695452	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.A779G:p.D260G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.A779G:p.D260G;ENSG00000081923:ENST00000536015:exon9:c.A779G:p.D260G;	0.893410251165721	0.548
18	55362684	T	G	18	57695452	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.A779C:p.D260A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.A779C:p.D260A;ENSG00000081923:ENST00000536015:exon9:c.A779C:p.D260A;	0.896154755100104	0.662
18	55362763	C	A	18	57695531	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon9:c.G700T:p.E234X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon8:c.G700T:p.E234X;ENSG00000081923:ENST00000536015:exon9:c.G700T:p.E234X;	0.98628329272932	0.882
18	55362763	C	G	18	57695531	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.G700C:p.E234Q;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.G700C:p.E234Q;ENSG00000081923:ENST00000536015:exon9:c.G700C:p.E234Q;	0.984085368754088	0.846
18	55362763	C	T	18	57695531	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon9:c.G700A:p.E234K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.G700A:p.E234K;ENSG00000081923:ENST00000536015:exon9:c.G700A:p.E234K;	0.990811693613874	0.836
18	55362764	T	A	18	57695532	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon9:c.A699T:p.G233G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.A699T:p.G233G;ENSG00000081923:ENST00000536015:exon9:c.A699T:p.G233G;	0.00430686859165656	0.094
18	55362764	T	C	18	57695532	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon9:c.A699G:p.G233G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.A699G:p.G233G;ENSG00000081923:ENST00000536015:exon9:c.A699G:p.G233G;	7.91635765426405E-5	0.018
18	55362764	T	G	18	57695532	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon9:c.A699C:p.G233G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon8:c.A699C:p.G233G;ENSG00000081923:ENST00000536015:exon9:c.A699C:p.G233G;	0.0102045891842646	0.112
18	55362765	C	A	18	57695533	y	y	splicing	ATP8B1(NM_005603:exon10:c.699-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.699-1G>T;ENST00000536015:exon10:c.699-1G>T)	.	.	0.999990361384395	0.952
18	55362765	C	G	18	57695533	y	y	splicing	ATP8B1(NM_005603:exon10:c.699-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.699-1G>C;ENST00000536015:exon10:c.699-1G>C)	.	.	0.999990361384395	0.952
18	55362765	C	T	18	57695533	y	y	splicing	ATP8B1(NM_005603:exon10:c.699-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.699-1G>A;ENST00000536015:exon10:c.699-1G>A)	.	.	0.999990361384395	0.952
18	55362766	T	A	18	57695534	y	y	splicing	ATP8B1(NM_005603:exon10:c.699-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.699-2A>T;ENST00000536015:exon10:c.699-2A>T)	.	.	0.999988247793601	0.954
18	55362766	T	C	18	57695534	y	y	splicing	ATP8B1(NM_005603:exon10:c.699-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.699-2A>G;ENST00000536015:exon10:c.699-2A>G)	.	.	0.999988247793601	0.954
18	55362766	T	G	18	57695534	y	y	splicing	ATP8B1(NM_005603:exon10:c.699-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon9:c.699-2A>C;ENST00000536015:exon10:c.699-2A>C)	.	.	0.999988247793601	0.954
18	55362767	A	C	18	57695535	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.997496678292622	0.75
18	55362767	A	G	18	57695535	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.56602434109444E-4	0.118
18	55362767	A	T	18	57695535	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.786260101177056	0.548
18	55362768	A	C	18	57695536	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.08916633714385E-5	0.0
18	55362768	A	G	18	57695536	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.76005803383231E-5	0.0
18	55362768	A	T	18	57695536	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.15496886889496E-5	0.002
18	55362769	A	C	18	57695537	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.290682052623884	0.526
18	55362769	A	G	18	57695537	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.48873673117261E-4	0.106
18	55362769	A	T	18	57695537	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.054359553118827	0.434
18	55362770	G	A	18	57695538	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.93860178329078E-5	0.026
18	55362770	G	C	18	57695538	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.15373624558912E-4	0.242
18	55362770	G	T	18	57695538	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.64990745171689E-4	0.206
18	55362771	G	A	18	57695539	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.02229827642922E-5	0.002
18	55362771	G	C	18	57695539	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.79707229164469E-4	0.006
18	55362771	G	T	18	57695539	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.00353309608277E-4	0.01
18	55362772	A	C	18	57695540	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.88920752088199E-4	0.034
18	55362772	A	G	18	57695540	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.30035988174696E-5	0.004
18	55362772	A	T	18	57695540	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.88765393686997E-4	0.092
18	55362773	A	C	18	57695541	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999757943570025	0.974
18	55362773	A	G	18	57695541	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.32453561177413E-4	0.04
18	55362773	A	T	18	57695541	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.62474955844879E-4	0.056
18	55362774	T	A	18	57695542	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.67944982512943E-5	0.01
18	55362774	T	C	18	57695542	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.53368207973557E-5	0.002
18	55362774	T	G	18	57695542	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.79973310716145E-6	0.008
18	55362775	G	A	18	57695543	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.95048459408849E-5	0.0
18	55362775	G	C	18	57695543	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.78953178621614E-4	0.02
18	55362775	G	T	18	57695543	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.38144215148385E-4	0.024
18	55362776	G	A	18	57695544	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.6729367058015E-5	0.002
18	55362776	G	C	18	57695544	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00276897176657555	0.096
18	55362776	G	T	18	57695544	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00102644107616879	0.066
18	55364842	A	C	18	57697610	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.6460740975598E-5	0.002
18	55364842	A	G	18	57697610	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.6460740975598E-5	0.002
18	55364842	A	T	18	57697610	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.10641051587949E-5	0.0
18	55364843	C	A	18	57697611	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.60709521345197E-4	0.008
18	55364843	C	G	18	57697611	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.98182873807317E-4	0.02
18	55364843	C	T	18	57697611	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.0253691250843E-4	0.008
18	55364844	A	C	18	57697612	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.36594941489665E-4	0.046
18	55364844	A	G	18	57697612	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00279688186928209	0.04
18	55364844	A	T	18	57697612	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00295226940361161	0.044
18	55364845	C	A	18	57697613	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999901571467285	0.756
18	55364845	C	G	18	57697613	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999783250751685	0.96
18	55364845	C	T	18	57697613	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999927759679709	0.872
18	55364846	T	A	18	57697614	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998113040585151	0.846
18	55364846	T	C	18	57697614	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99771530583761	0.912
18	55364846	T	G	18	57697614	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.996968853523519	0.896
18	55364847	T	A	18	57697615	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.993692593451693	0.81
18	55364847	T	C	18	57697615	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00346343964224881	0.114
18	55364847	T	G	18	57697615	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.977617311836937	0.81
18	55364848	A	C	18	57697616	y	y	splicing	ATP8B1(NM_005603:exon9:c.698+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.698+2T>G;ENST00000536015:exon9:c.698+2T>G)	.	.	0.999988247793601	0.932
18	55364848	A	G	18	57697616	y	y	splicing	ATP8B1(NM_005603:exon9:c.698+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.698+2T>C;ENST00000536015:exon9:c.698+2T>C)	.	.	0.992054276455321	0.686
18	55364848	A	T	18	57697616	y	y	splicing	ATP8B1(NM_005603:exon9:c.698+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.698+2T>A;ENST00000536015:exon9:c.698+2T>A)	.	.	0.999988247793601	0.932
18	55364849	C	A	18	57697617	y	y	splicing	ATP8B1(NM_005603:exon9:c.698+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.698+1G>T;ENST00000536015:exon9:c.698+1G>T)	.	.	0.999989072007339	0.934
18	55364849	C	G	18	57697617	y	y	splicing	ATP8B1(NM_005603:exon9:c.698+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.698+1G>C;ENST00000536015:exon9:c.698+1G>C)	.	.	0.999989072007339	0.934
18	55364849	C	T	18	57697617	y	y	splicing	ATP8B1(NM_005603:exon9:c.698+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.698+1G>A;ENST00000536015:exon9:c.698+1G>A)	.	.	0.999989072007339	0.934
18	55364850	C	A	18	57697618	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.G698T:p.G233V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.G698T:p.G233V;ENSG00000081923:ENST00000536015:exon8:c.G698T:p.G233V;	0.999934921241041	0.928
18	55364850	C	G	18	57697618	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.G698C:p.G233A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.G698C:p.G233A;ENSG00000081923:ENST00000536015:exon8:c.G698C:p.G233A;	0.999934301719962	0.928
18	55364850	C	T	18	57697618	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.G698A:p.G233E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.G698A:p.G233E;ENSG00000081923:ENST00000536015:exon8:c.G698A:p.G233E;	0.999972434622417	0.982
18	55364851	C	A	18	57697619	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon8:c.G697T:p.G233X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon7:c.G697T:p.G233X;ENSG00000081923:ENST00000536015:exon8:c.G697T:p.G233X;	0.993785559229883	0.932
18	55364851	C	G	18	57697619	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.G697C:p.G233R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.G697C:p.G233R;ENSG00000081923:ENST00000536015:exon8:c.G697C:p.G233R;	0.990563843380779	0.942
18	55364851	C	T	18	57697619	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.G697A:p.G233R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.G697A:p.G233R;ENSG00000081923:ENST00000536015:exon8:c.G697A:p.G233R;	0.976343976982154	0.686
18	55364852	A	C	18	57697620	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.T696G:p.D232E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.T696G:p.D232E;ENSG00000081923:ENST00000536015:exon8:c.T696G:p.D232E;	7.87308921389964E-5	0.176
18	55364852	A	G	18	57697620	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon8:c.T696C:p.D232D;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.T696C:p.D232D;ENSG00000081923:ENST00000536015:exon8:c.T696C:p.D232D;	2.2270645975369E-5	0.002
18	55364852	A	T	18	57697620	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.T696A:p.D232E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.T696A:p.D232E;ENSG00000081923:ENST00000536015:exon8:c.T696A:p.D232E;	3.47492598712659E-5	0.196
18	55364919	G	A	18	57697687	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.C629T:p.A210V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.C629T:p.A210V;ENSG00000081923:ENST00000536015:exon8:c.C629T:p.A210V;	0.98466214167764	0.854
18	55364919	G	C	18	57697687	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.C629G:p.A210G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.C629G:p.A210G;ENSG00000081923:ENST00000536015:exon8:c.C629G:p.A210G;	0.983780949364485	0.92
18	55364919	G	T	18	57697687	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.C629A:p.A210D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.C629A:p.A210D;ENSG00000081923:ENST00000536015:exon8:c.C629A:p.A210D;	0.994630471869351	0.912
18	55364920	C	A	18	57697688	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.G628T:p.A210S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.G628T:p.A210S;ENSG00000081923:ENST00000536015:exon8:c.G628T:p.A210S;	0.99977957350629	0.972
18	55364920	C	G	18	57697688	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.G628C:p.A210P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.G628C:p.A210P;ENSG00000081923:ENST00000536015:exon8:c.G628C:p.A210P;	0.999852892974577	0.968
18	55364920	C	T	18	57697688	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon8:c.G628A:p.A210T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon7:c.G628A:p.A210T;ENSG00000081923:ENST00000536015:exon8:c.G628A:p.A210T;	0.999381714082746	0.964
18	55364921	C	A	18	57697689	y	y	splicing	ATP8B1(NM_005603:exon9:c.628-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.628-1G>T;ENST00000536015:exon9:c.628-1G>T)	.	.	0.999989072007339	0.934
18	55364921	C	G	18	57697689	y	y	splicing	ATP8B1(NM_005603:exon9:c.628-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.628-1G>C;ENST00000536015:exon9:c.628-1G>C)	.	.	0.999989072007339	0.934
18	55364921	C	T	18	57697689	y	y	splicing	ATP8B1(NM_005603:exon9:c.628-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.628-1G>A;ENST00000536015:exon9:c.628-1G>A)	.	.	0.999989072007339	0.934
18	55364922	T	A	18	57697690	y	y	splicing	ATP8B1(NM_005603:exon9:c.628-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.628-2A>T;ENST00000536015:exon9:c.628-2A>T)	.	.	0.999988247793601	0.93
18	55364922	T	C	18	57697690	y	y	splicing	ATP8B1(NM_005603:exon9:c.628-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.628-2A>G;ENST00000536015:exon9:c.628-2A>G)	.	.	0.999988247793601	0.93
18	55364922	T	G	18	57697690	y	y	splicing	ATP8B1(NM_005603:exon9:c.628-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon8:c.628-2A>C;ENST00000536015:exon9:c.628-2A>C)	.	.	0.999988247793601	0.93
18	55364923	G	A	18	57697691	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0694841044270216	0.128
18	55364923	G	C	18	57697691	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999873680407052	0.958
18	55364923	G	T	18	57697691	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99974661683156	0.858
18	55364924	T	A	18	57697692	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00249665468296792	0.066
18	55364924	T	C	18	57697692	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.22829389567484E-4	0.036
18	55364924	T	G	18	57697692	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.12681417627973E-4	0.024
18	55364925	C	A	18	57697693	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.78778313796105E-5	0.008
18	55364925	C	G	18	57697693	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.78778313796105E-5	0.004
18	55364925	C	T	18	57697693	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.12387621075116E-4	0.0
18	55364926	C	A	18	57697694	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.1812652633319E-5	0.02
18	55364926	C	G	18	57697694	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.58800609919459E-5	0.018
18	55364926	C	T	18	57697694	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998158025242381	0.944
18	55364927	A	C	18	57697695	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0239138366113616	0.066
18	55364927	A	G	18	57697695	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.12708170580488E-4	0.052
18	55364927	A	T	18	57697695	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999905093504321	0.98
18	55364928	A	C	18	57697696	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00677328588322135	0.146
18	55364928	A	G	18	57697696	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.23822043615195E-4	0.012
18	55364928	A	T	18	57697696	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0667535097270567	0.246
18	55364929	A	C	18	57697697	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.369169377224073	0.436
18	55364929	A	G	18	57697697	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.00399804278047E-4	0.106
18	55364929	A	T	18	57697697	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.62368831188262	0.492
18	55364930	A	C	18	57697698	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.79644680368604	0.77
18	55364930	A	G	18	57697698	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00160137535622971	0.148
18	55364930	A	T	18	57697698	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.98018549815552	0.812
18	55364931	C	A	18	57697699	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.47195432372874E-5	0.008
18	55364931	C	G	18	57697699	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.12562221765476E-5	0.002
18	55364931	C	T	18	57697699	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.06345369871741E-4	0.09
18	55364932	A	C	18	57697700	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.138580594094293	0.46
18	55364932	A	G	18	57697700	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00105582354326822	0.028
18	55364932	A	T	18	57697700	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999880914746918	0.964
18	55365019	T	A	18	57697787	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.71499656368152E-5	0.0
18	55365019	T	C	18	57697787	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.19523722086209E-5	0.0
18	55365019	T	G	18	57697787	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.71499656368152E-5	0.0
18	55365020	C	A	18	57697788	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00205833260425737	0.068
18	55365020	C	G	18	57697788	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00205833260425737	0.076
18	55365020	C	T	18	57697788	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00439726882533123	0.098
18	55365021	A	C	18	57697789	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.643242071802496	0.458
18	55365021	A	G	18	57697789	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.711476652513824	0.514
18	55365021	A	T	18	57697789	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.77251435078155	0.398
18	55365022	C	A	18	57697790	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999981448762967	0.994
18	55365022	C	G	18	57697790	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999981448762967	0.976
18	55365022	C	T	18	57697790	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999987195007718	0.984
18	55365023	T	A	18	57697791	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99395116566181	0.81
18	55365023	T	C	18	57697791	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.989836700700886	0.832
18	55365023	T	G	18	57697791	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.819314308380846	0.662
18	55365024	T	A	18	57697792	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999462816472233	0.942
18	55365024	T	C	18	57697792	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0326727211364473	0.236
18	55365024	T	G	18	57697792	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.998979054182745	0.892
18	55365025	A	C	18	57697793	y	y	splicing	ATP8B1(NM_005603:exon8:c.627+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.627+2T>G;ENST00000536015:exon8:c.627+2T>G)	.	.	0.999978952611685	0.928
18	55365025	A	G	18	57697793	y	y	splicing	ATP8B1(NM_005603:exon8:c.627+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.627+2T>C;ENST00000536015:exon8:c.627+2T>C)	.	.	0.994219891230403	0.704
18	55365025	A	T	18	57697793	y	y	splicing	ATP8B1(NM_005603:exon8:c.627+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.627+2T>A;ENST00000536015:exon8:c.627+2T>A)	.	.	0.999988247793601	0.926
18	55365026	C	A	18	57697794	y	y	splicing	ATP8B1(NM_005603:exon8:c.627+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.627+1G>T;ENST00000536015:exon8:c.627+1G>T)	.	.	0.999989072007339	0.934
18	55365026	C	G	18	57697794	y	y	splicing	ATP8B1(NM_005603:exon8:c.627+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.627+1G>C;ENST00000536015:exon8:c.627+1G>C)	.	.	0.999989072007339	0.934
18	55365026	C	T	18	57697794	y	y	splicing	ATP8B1(NM_005603:exon8:c.627+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.627+1G>A;ENST00000536015:exon8:c.627+1G>A)	.	.	0.999989072007339	0.934
18	55365027	T	A	18	57697795	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon7:c.A627T:p.P209P;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.A627T:p.P209P;ENSG00000081923:ENST00000536015:exon7:c.A627T:p.P209P;	2.36659156058513E-4	0.054
18	55365027	T	C	18	57697795	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon7:c.A627G:p.P209P;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.A627G:p.P209P;ENSG00000081923:ENST00000536015:exon7:c.A627G:p.P209P;	5.37624502925931E-5	0.048
18	55365027	T	G	18	57697795	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon7:c.A627C:p.P209P;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.A627C:p.P209P;ENSG00000081923:ENST00000536015:exon7:c.A627C:p.P209P;	7.70582608182765E-5	0.002
18	55365028	G	A	18	57697796	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.C626T:p.P209L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.C626T:p.P209L;ENSG00000081923:ENST00000536015:exon7:c.C626T:p.P209L;	0.988819048974868	0.878
18	55365028	G	C	18	57697796	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.C626G:p.P209R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.C626G:p.P209R;ENSG00000081923:ENST00000536015:exon7:c.C626G:p.P209R;	0.984673107164713	0.914
18	55365028	G	T	18	57697796	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.C626A:p.P209Q;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.C626A:p.P209Q;ENSG00000081923:ENST00000536015:exon7:c.C626A:p.P209Q;	0.967473940754124	0.748
18	55365029	G	A	18	57697797	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.C625T:p.P209S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.C625T:p.P209S;ENSG00000081923:ENST00000536015:exon7:c.C625T:p.P209S;	0.953502592467242	0.544
18	55365029	G	C	18	57697797	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.C625G:p.P209A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.C625G:p.P209A;ENSG00000081923:ENST00000536015:exon7:c.C625G:p.P209A;	0.00267956227081098	0.084
18	55365029	G	T	18	57697797	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.C625A:p.P209T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.C625A:p.P209T;ENSG00000081923:ENST00000536015:exon7:c.C625A:p.P209T;	0.144057429738901	0.258
18	55365098	A	C	18	57697866	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.T556G:p.F186V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.T556G:p.F186V;ENSG00000081923:ENST00000536015:exon7:c.T556G:p.F186V;	0.358915542498513	0.544
18	55365098	A	G	18	57697866	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.T556C:p.F186L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.T556C:p.F186L;ENSG00000081923:ENST00000536015:exon7:c.T556C:p.F186L;	0.257349826121761	0.374
18	55365098	A	T	18	57697866	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.T556A:p.F186I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.T556A:p.F186I;ENSG00000081923:ENST00000536015:exon7:c.T556A:p.F186I;	0.358915542498513	0.538
18	55365099	C	A	18	57697867	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.G555T:p.R185S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.G555T:p.R185S;ENSG00000081923:ENST00000536015:exon7:c.G555T:p.R185S;	0.306501039343511	0.476
18	55365099	C	G	18	57697867	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon7:c.G555C:p.R185S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.G555C:p.R185S;ENSG00000081923:ENST00000536015:exon7:c.G555C:p.R185S;	0.0893875195116294	0.34
18	55365099	C	T	18	57697867	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon7:c.G555A:p.R185R;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon6:c.G555A:p.R185R;ENSG00000081923:ENST00000536015:exon7:c.G555A:p.R185R;	0.00236342892118363	0.144
18	55365100	C	A	18	57697868	y	y	splicing	ATP8B1(NM_005603:exon8:c.555-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.555-1G>T;ENST00000536015:exon8:c.555-1G>T)	.	.	0.999989072007339	0.934
18	55365100	C	G	18	57697868	y	y	splicing	ATP8B1(NM_005603:exon8:c.555-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.555-1G>C;ENST00000536015:exon8:c.555-1G>C)	.	.	0.999989072007339	0.934
18	55365100	C	T	18	57697868	y	y	splicing	ATP8B1(NM_005603:exon8:c.555-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.555-1G>A;ENST00000536015:exon8:c.555-1G>A)	.	.	0.999989072007339	0.934
18	55365101	T	A	18	57697869	y	y	splicing	ATP8B1(NM_005603:exon8:c.555-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.555-2A>T;ENST00000536015:exon8:c.555-2A>T)	.	.	0.999988247793601	0.93
18	55365101	T	C	18	57697869	y	y	splicing	ATP8B1(NM_005603:exon8:c.555-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.555-2A>G;ENST00000536015:exon8:c.555-2A>G)	.	.	0.999988247793601	0.93
18	55365101	T	G	18	57697869	y	y	splicing	ATP8B1(NM_005603:exon8:c.555-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon7:c.555-2A>C;ENST00000536015:exon8:c.555-2A>C)	.	.	0.999988247793601	0.93
18	55365102	A	C	18	57697870	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.985477589636438	0.648
18	55365102	A	G	18	57697870	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.79898030326894E-5	0.004
18	55365102	A	T	18	57697870	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00291529070111378	0.236
18	55365103	A	C	18	57697871	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.75389520891839E-5	0.002
18	55365103	A	G	18	57697871	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.19352531830734E-5	0.0
18	55365103	A	T	18	57697871	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.55846400062607E-5	0.0
18	55365104	G	A	18	57697872	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.31845951523333E-5	0.0
18	55365104	G	C	18	57697872	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00996098104182498	0.13
18	55365104	G	T	18	57697872	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0096254862672592	0.118
18	55365105	G	A	18	57697873	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.56618959495811E-5	0.002
18	55365105	G	C	18	57697873	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.83621543081684E-4	0.212
18	55365105	G	T	18	57697873	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00162419233903033	0.172
18	55365106	A	C	18	57697874	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99984263906901	0.934
18	55365106	A	G	18	57697874	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.72628722606665E-4	0.028
18	55365106	A	T	18	57697874	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0208946610993697	0.194
18	55365107	T	A	18	57697875	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0239798815809914	0.352
18	55365107	T	C	18	57697875	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999159817257408	0.92
18	55365107	T	G	18	57697875	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0967980109779899	0.354
18	55365108	T	A	18	57697876	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.70109712415688E-5	0.05
18	55365108	T	C	18	57697876	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.81397823372587E-5	0.026
18	55365108	T	G	18	57697876	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.30850315933356E-5	0.004
18	55365109	A	C	18	57697877	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0104705787790108	0.298
18	55365109	A	G	18	57697877	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.00560078766715E-4	0.004
18	55365109	A	T	18	57697877	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0391605257907711	0.392
18	55365110	A	C	18	57697878	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.320195039243566	0.484
18	55365110	A	G	18	57697878	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.017333270892493	0.172
18	55365110	A	T	18	57697878	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.189796903195602	0.574
18	55365111	A	C	18	57697879	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0270066444808104	0.38
18	55365111	A	G	18	57697879	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.67586213633442E-4	0.004
18	55365111	A	T	18	57697879	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.026263172946596	0.37
18	55368263	C	A	18	57701031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.3836880322942E-4	0.006
18	55368263	C	G	18	57701031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.67741582444206E-4	0.002
18	55368263	C	T	18	57701031	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.17966644645418E-4	0.01
18	55368264	A	C	18	57701032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0033596024856806	0.0
18	55368264	A	G	18	57701032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00432297954959621	0.0
18	55368264	A	T	18	57701032	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.77054736795758E-4	0.002
18	55368265	C	A	18	57701033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.9619085090149E-4	0.164
18	55368265	C	G	18	57701033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00278459036814202	0.07
18	55368265	C	T	18	57701033	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.73080515578688E-4	0.064
18	55368266	A	C	18	57701034	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.34633936154326E-5	0.01
18	55368266	A	G	18	57701034	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.49809724180295E-6	0.01
18	55368266	A	T	18	57701034	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.39099667237805E-5	0.028
18	55368267	G	A	18	57701035	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.024859089514923	0.156
18	55368267	G	C	18	57701035	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00451268393155359	0.1
18	55368267	G	T	18	57701035	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.44507693004186E-5	0.056
18	55368268	T	A	18	57701036	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999962002799885	0.95
18	55368268	T	C	18	57701036	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.987282116881843	0.86
18	55368268	T	G	18	57701036	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999957292646322	0.942
18	55368269	A	C	18	57701037	y	y	splicing	ATP8B1(NM_005603:exon7:c.554+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.554+2T>G;ENST00000536015:exon7:c.554+2T>G)	.	.	0.999988247793601	0.922
18	55368269	A	G	18	57701037	y	y	splicing	ATP8B1(NM_005603:exon7:c.554+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.554+2T>C;ENST00000536015:exon7:c.554+2T>C)	.	.	0.992054276455321	0.646
18	55368269	A	T	18	57701037	y	y	splicing	ATP8B1(NM_005603:exon7:c.554+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.554+2T>A;ENST00000536015:exon7:c.554+2T>A)	.	.	0.999988247793601	0.922
18	55368270	C	A	18	57701038	y	y	splicing	ATP8B1(NM_005603:exon7:c.554+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.554+1G>T;ENST00000536015:exon7:c.554+1G>T)	.	.	0.999989072007339	0.926
18	55368270	C	G	18	57701038	y	y	splicing	ATP8B1(NM_005603:exon7:c.554+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.554+1G>C;ENST00000536015:exon7:c.554+1G>C)	.	.	0.999989072007339	0.926
18	55368270	C	T	18	57701038	y	y	splicing	ATP8B1(NM_005603:exon7:c.554+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.554+1G>A;ENST00000536015:exon7:c.554+1G>A)	.	.	0.999989072007339	0.926
18	55368271	C	A	18	57701039	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.G554T:p.R185M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.G554T:p.R185M;ENSG00000081923:ENST00000536015:exon6:c.G554T:p.R185M;	0.999990641641815	0.962
18	55368271	C	G	18	57701039	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.G554C:p.R185T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.G554C:p.R185T;ENSG00000081923:ENST00000536015:exon6:c.G554C:p.R185T;	0.999996244686623	1.0
18	55368271	C	T	18	57701039	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.G554A:p.R185K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.G554A:p.R185K;ENSG00000081923:ENST00000536015:exon6:c.G554A:p.R185K;	0.999966403036112	0.984
18	55368272	T	A	18	57701040	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.A553T:p.R185W;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.A553T:p.R185W;ENSG00000081923:ENST00000536015:exon6:c.A553T:p.R185W;	0.999926650014536	1.0
18	55368272	T	C	18	57701040	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.A553G:p.R185G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.A553G:p.R185G;ENSG00000081923:ENST00000536015:exon6:c.A553G:p.R185G;	0.999930133034464	1.0
18	55368272	T	G	18	57701040	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon6:c.A553C:p.R185R;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.A553C:p.R185R;ENSG00000081923:ENST00000536015:exon6:c.A553C:p.R185R;	0.99968080800016	0.994
18	55368273	G	A	18	57701041	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon6:c.C552T:p.G184G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.C552T:p.G184G;ENSG00000081923:ENST00000536015:exon6:c.C552T:p.G184G;	0.999573551558589	0.976
18	55368273	G	C	18	57701041	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon6:c.C552G:p.G184G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.C552G:p.G184G;ENSG00000081923:ENST00000536015:exon6:c.C552G:p.G184G;	0.932750074167936	0.646
18	55368273	G	T	18	57701041	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon6:c.C552A:p.G184G;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.C552A:p.G184G;ENSG00000081923:ENST00000536015:exon6:c.C552A:p.G184G;	0.760832039939923	0.55
18	55368331	G	A	18	57701099	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.C494T:p.A165V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.C494T:p.A165V;ENSG00000081923:ENST00000536015:exon6:c.C494T:p.A165V;	0.00569103931850602	0.074
18	55368331	G	C	18	57701099	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.C494G:p.A165G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.C494G:p.A165G;ENSG00000081923:ENST00000536015:exon6:c.C494G:p.A165G;	0.0186679027689052	0.086
18	55368331	G	T	18	57701099	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.C494A:p.A165D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.C494A:p.A165D;ENSG00000081923:ENST00000536015:exon6:c.C494A:p.A165D;	0.991130123166643	0.738
18	55368332	C	A	18	57701100	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.G493T:p.A165S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.G493T:p.A165S;ENSG00000081923:ENST00000536015:exon6:c.G493T:p.A165S;	0.891995076858115	0.826
18	55368332	C	G	18	57701100	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.G493C:p.A165P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.G493C:p.A165P;ENSG00000081923:ENST00000536015:exon6:c.G493C:p.A165P;	0.976425249498536	0.83
18	55368332	C	T	18	57701100	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon6:c.G493A:p.A165T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon5:c.G493A:p.A165T;ENSG00000081923:ENST00000536015:exon6:c.G493A:p.A165T;	0.178891792768664	0.446
18	55368333	C	A	18	57701101	y	y	splicing	ATP8B1(NM_005603:exon7:c.493-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.493-1G>T;ENST00000536015:exon7:c.493-1G>T;ENST00000591728:exon6:c.395-1G>T)	.	.	0.999986675681007	0.942
18	55368333	C	G	18	57701101	y	y	splicing	ATP8B1(NM_005603:exon7:c.493-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.493-1G>C;ENST00000536015:exon7:c.493-1G>C;ENST00000591728:exon6:c.395-1G>C)	.	.	0.999986675681007	0.942
18	55368333	C	T	18	57701101	y	y	splicing	ATP8B1(NM_005603:exon7:c.493-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.493-1G>A;ENST00000536015:exon7:c.493-1G>A;ENST00000591728:exon6:c.395-1G>A)	.	.	0.999986675681007	0.942
18	55368334	T	A	18	57701102	y	y	splicing	ATP8B1(NM_005603:exon7:c.493-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.493-2A>T;ENST00000536015:exon7:c.493-2A>T;ENST00000591728:exon6:c.395-2A>T)	.	.	0.999988247793601	0.938
18	55368334	T	C	18	57701102	y	y	splicing	ATP8B1(NM_005603:exon7:c.493-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.493-2A>G;ENST00000536015:exon7:c.493-2A>G;ENST00000591728:exon6:c.395-2A>G)	.	.	0.999988247793601	0.938
18	55368334	T	G	18	57701102	y	y	splicing	ATP8B1(NM_005603:exon7:c.493-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon6:c.493-2A>C;ENST00000536015:exon7:c.493-2A>C;ENST00000591728:exon6:c.395-2A>C)	.	.	0.999988247793601	0.938
18	55368335	T	A	18	57701103	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.25638471225344E-4	0.034
18	55368335	T	C	18	57701103	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0341726831017752	0.258
18	55368335	T	G	18	57701103	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.57231453509382E-4	0.076
18	55368336	G	A	18	57701104	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.6158562166612E-5	0.014
18	55368336	G	C	18	57701104	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.06690861475193E-5	0.03
18	55368336	G	T	18	57701104	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.40507745866769E-5	0.014
18	55368337	A	C	18	57701105	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.210735864599965	0.516
18	55368337	A	G	18	57701105	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00111083054683177	0.124
18	55368337	A	T	18	57701105	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00765795624125536	0.424
18	55368338	G	A	18	57701106	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.20626054097705E-5	0.004
18	55368338	G	C	18	57701106	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00156903850117232	0.084
18	55368338	G	T	18	57701106	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00220239151017287	0.072
18	55368339	A	C	18	57701107	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00509045884121759	0.29
18	55368339	A	G	18	57701107	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.43981528458362E-4	0.094
18	55368339	A	T	18	57701107	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00724693410429038	0.268
18	55368340	A	C	18	57701108	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.010248870203486	0.114
18	55368340	A	G	18	57701108	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.12775096889163E-4	0.016
18	55368340	A	T	18	57701108	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0137997794085807	0.134
18	55368341	G	A	18	57701109	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0401863911199162	0.326
18	55368341	G	C	18	57701109	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.119008136065513	0.262
18	55368341	G	T	18	57701109	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.276300042425759	0.246
18	55368342	G	A	18	57701110	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.94817048532501E-4	0.258
18	55368342	G	C	18	57701110	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.52655981260862E-4	0.162
18	55368342	G	T	18	57701110	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00110784007231729	0.234
18	55368343	A	C	18	57701111	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00218612869693198	0.28
18	55368343	A	G	18	57701111	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.56799373606211E-4	0.196
18	55368343	A	T	18	57701111	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00414709452037953	0.392
18	55368344	A	C	18	57701112	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.15738597205692	0.358
18	55368344	A	G	18	57701112	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0129511135776223	0.14
18	55368344	A	T	18	57701112	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.301044303091253	0.38
18	55368439	A	C	18	57701207	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.96323034491673E-5	0.0
18	55368439	A	G	18	57701207	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.99769738680469E-5	0.002
18	55368439	A	T	18	57701207	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.96323034491673E-5	0.0
18	55368440	T	A	18	57701208	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.3915010020927E-4	0.056
18	55368440	T	C	18	57701208	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.3915010020927E-4	0.026
18	55368440	T	G	18	57701208	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.61998241937649E-4	0.016
18	55368441	C	A	18	57701209	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.8765528661181E-5	0.002
18	55368441	C	G	18	57701209	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.58633587155125E-5	0.03
18	55368441	C	T	18	57701209	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.68268337013374E-4	0.0
18	55368442	C	A	18	57701210	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999954299924476	0.9
18	55368442	C	G	18	57701210	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999959963295568	0.91
18	55368442	C	T	18	57701210	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999959546148074	0.93
18	55368443	T	A	18	57701211	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99957497577589	0.948
18	55368443	T	C	18	57701211	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.99957497577589	0.914
18	55368443	T	G	18	57701211	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.996618973257992	0.88
18	55368444	C	A	18	57701212	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.949972533002196	0.49
18	55368444	C	G	18	57701212	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.964883134290317	0.508
18	55368444	C	T	18	57701212	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.98121428871126E-5	0.026
18	55368445	A	C	18	57701213	y	y	splicing	ATP8B1(NM_005603:exon6:c.492+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.492+2T>G;ENST00000536015:exon6:c.492+2T>G;ENST00000591728:exon5:c.394+2T>G)	.	.	0.999988247793601	0.944
18	55368445	A	G	18	57701213	y	y	splicing	ATP8B1(NM_005603:exon6:c.492+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.492+2T>C;ENST00000536015:exon6:c.492+2T>C;ENST00000591728:exon5:c.394+2T>C)	.	.	0.999983530538551	0.954
18	55368445	A	T	18	57701213	y	y	splicing	ATP8B1(NM_005603:exon6:c.492+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.492+2T>A;ENST00000536015:exon6:c.492+2T>A;ENST00000591728:exon5:c.394+2T>A)	.	.	0.999988247793601	0.944
18	55368446	C	A	18	57701214	y	y	splicing	ATP8B1(NM_005603:exon6:c.492+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.492+1G>T;ENST00000536015:exon6:c.492+1G>T;ENST00000591728:exon5:c.394+1G>T)	.	.	0.999986675681007	0.948
18	55368446	C	G	18	57701214	y	y	splicing	ATP8B1(NM_005603:exon6:c.492+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.492+1G>C;ENST00000536015:exon6:c.492+1G>C;ENST00000591728:exon5:c.394+1G>C)	.	.	0.999986675681007	0.948
18	55368446	C	T	18	57701214	y	y	splicing	ATP8B1(NM_005603:exon6:c.492+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.492+1G>A;ENST00000536015:exon6:c.492+1G>A;ENST00000591728:exon5:c.394+1G>A)	.	.	0.999986675681007	0.948
18	55368447	C	A	18	57701215	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon5:c.G492T:p.V164V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G492T:p.V164V;ENSG00000081923:ENST00000536015:exon5:c.G492T:p.V164V;	0.999941793011475	0.994
18	55368447	C	G	18	57701215	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon5:c.G492C:p.V164V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G492C:p.V164V;ENSG00000081923:ENST00000536015:exon5:c.G492C:p.V164V;	0.999983683705777	0.982
18	55368447	C	T	18	57701215	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon5:c.G492A:p.V164V;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G492A:p.V164V;ENSG00000081923:ENST00000536015:exon5:c.G492A:p.V164V;	0.999994453667968	0.984
18	55368448	A	C	18	57701216	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.T491G:p.V164G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.T491G:p.V164G;ENSG00000081923:ENST00000536015:exon5:c.T491G:p.V164G;	0.0796835243531986	0.188
18	55368448	A	G	18	57701216	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.T491C:p.V164A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.T491C:p.V164A;ENSG00000081923:ENST00000536015:exon5:c.T491C:p.V164A;	0.231321769180657	0.268
18	55368448	A	T	18	57701216	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.T491A:p.V164E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.T491A:p.V164E;ENSG00000081923:ENST00000536015:exon5:c.T491A:p.V164E;	0.0605866308374754	0.44
18	55368449	C	A	18	57701217	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.G490T:p.V164L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G490T:p.V164L;ENSG00000081923:ENST00000536015:exon5:c.G490T:p.V164L;	0.0180325018667611	0.158
18	55368449	C	G	18	57701217	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.G490C:p.V164L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G490C:p.V164L;ENSG00000081923:ENST00000536015:exon5:c.G490C:p.V164L;	0.00120501552598424	0.036
18	55368449	C	T	18	57701217	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.G490A:p.V164M;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G490A:p.V164M;ENSG00000081923:ENST00000536015:exon5:c.G490A:p.V164M;	0.922905230345591	0.674
18	55368544	G	A	18	57701312	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.C395T:p.A132V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.C395T:p.A132V;ENSG00000081923:ENST00000536015:exon5:c.C395T:p.A132V;	0.00162532726465032	0.03
18	55368544	G	C	18	57701312	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.C395G:p.A132G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.C395G:p.A132G;ENSG00000081923:ENST00000536015:exon5:c.C395G:p.A132G;	0.00190044562661181	0.034
18	55368544	G	T	18	57701312	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.C395A:p.A132E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.C395A:p.A132E;ENSG00000081923:ENST00000536015:exon5:c.C395A:p.A132E;	0.00590018769005653	0.038
18	55368545	C	A	18	57701313	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.G394T:p.A132S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G394T:p.A132S;ENSG00000081923:ENST00000536015:exon5:c.G394T:p.A132S;	0.183114570651328	0.332
18	55368545	C	G	18	57701313	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.G394C:p.A132P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G394C:p.A132P;ENSG00000081923:ENST00000536015:exon5:c.G394C:p.A132P;	0.0141082248695183	0.162
18	55368545	C	T	18	57701313	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon5:c.G394A:p.A132T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon4:c.G394A:p.A132T;ENSG00000081923:ENST00000536015:exon5:c.G394A:p.A132T;	2.84607142373127E-4	0.098
18	55368546	C	A	18	57701314	y	y	splicing	ATP8B1(NM_005603:exon6:c.394-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.394-1G>T;ENST00000536015:exon6:c.394-1G>T;ENST00000591728:exon5:c.296-1G>T)	.	.	0.999960200702261	0.938
18	55368546	C	G	18	57701314	y	y	splicing	ATP8B1(NM_005603:exon6:c.394-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.394-1G>C;ENST00000536015:exon6:c.394-1G>C;ENST00000591728:exon5:c.296-1G>C)	.	.	0.999960200702261	0.936
18	55368546	C	T	18	57701314	y	y	splicing	ATP8B1(NM_005603:exon6:c.394-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.394-1G>A;ENST00000536015:exon6:c.394-1G>A;ENST00000591728:exon5:c.296-1G>A)	.	.	0.999960200702261	0.938
18	55368547	T	A	18	57701315	y	y	splicing	ATP8B1(NM_005603:exon6:c.394-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.394-2A>T;ENST00000536015:exon6:c.394-2A>T;ENST00000591728:exon5:c.296-2A>T)	.	.	0.999971317418422	0.894
18	55368547	T	C	18	57701315	y	y	splicing	ATP8B1(NM_005603:exon6:c.394-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.394-2A>G;ENST00000536015:exon6:c.394-2A>G;ENST00000591728:exon5:c.296-2A>G)	.	.	0.999971317418422	0.882
18	55368547	T	G	18	57701315	y	y	splicing	ATP8B1(NM_005603:exon6:c.394-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon5:c.394-2A>C;ENST00000536015:exon6:c.394-2A>C;ENST00000591728:exon5:c.296-2A>C)	.	.	0.999971317418422	0.882
18	55368548	A	C	18	57701316	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.933728054660696	0.648
18	55368548	A	G	18	57701316	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.05025629744266E-4	0.002
18	55368548	A	T	18	57701316	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0182727418780275	0.136
18	55368549	A	C	18	57701317	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.04543750589292E-5	0.008
18	55368549	A	G	18	57701317	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.24681336486567E-5	0.0
18	55368549	A	T	18	57701317	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.03994617406031E-5	0.008
18	55368550	A	C	18	57701318	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0140147267941718	0.174
18	55368550	A	G	18	57701318	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.87536625776789E-4	0.03
18	55368550	A	T	18	57701318	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00359761501487477	0.142
18	55368551	A	C	18	57701319	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00832348730630948	0.176
18	55368551	A	G	18	57701319	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.08703137979851E-4	0.004
18	55368551	A	T	18	57701319	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00653532686629275	0.132
18	55368552	G	A	18	57701320	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.058487284292E-5	0.0
18	55368552	G	C	18	57701320	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.3053909628908E-5	0.026
18	55368552	G	T	18	57701320	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.08250013239235E-4	0.014
18	55368553	A	C	18	57701321	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.04198453291677E-4	0.082
18	55368553	A	G	18	57701321	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.08083169337281E-6	0.002
18	55368553	A	T	18	57701321	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.41356356924802E-4	0.056
18	55368554	A	C	18	57701322	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999860898274603	0.98
18	55368554	A	G	18	57701322	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.10206336548205E-4	0.01
18	55368554	A	T	18	57701322	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00211761842534414	0.166
18	55368555	T	A	18	57701323	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.15004953415078E-5	0.014
18	55368555	T	C	18	57701323	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.61752559043233E-5	0.008
18	55368555	T	G	18	57701323	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.71084879737725E-6	0.0
18	55368556	A	C	18	57701324	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00165704326421182	0.108
18	55368556	A	G	18	57701324	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.22518902111785E-5	0.01
18	55368556	A	T	18	57701324	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00169910491336157	0.12
18	55368557	A	C	18	57701325	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.00940429130132E-4	0.026
18	55368557	A	G	18	57701325	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.07849203452592E-5	0.004
18	55368557	A	T	18	57701325	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.91091730319926E-4	0.054
18	55371779	G	A	18	57704547	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.00146966595854E-5	0.0
18	55371779	G	C	18	57704547	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.00146966595854E-5	0.0
18	55371779	G	T	18	57704547	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.00146966595854E-5	0.0
18	55371780	G	A	18	57704548	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00373043390252093	0.016
18	55371780	G	C	18	57704548	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00119441174184458	0.05
18	55371780	G	T	18	57704548	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00137774891356685	0.012
18	55371781	C	A	18	57704549	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.61436414132542E-4	0.028
18	55371781	C	G	18	57704549	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00168415368267553	0.056
18	55371781	C	T	18	57704549	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.6125911093562E-4	0.008
18	55371782	A	C	18	57704550	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.96980667690597E-4	0.036
18	55371782	A	G	18	57704550	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00112448888560576	0.028
18	55371782	A	T	18	57704550	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00123554004703408	0.006
18	55371783	T	A	18	57704551	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.997256594816532	0.868
18	55371783	T	C	18	57704551	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.994316853690479	0.906
18	55371783	T	G	18	57704551	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.969445226870532	0.71
18	55371784	T	A	18	57704552	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999859330314928	0.926
18	55371784	T	C	18	57704552	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999033362540011	0.908
18	55371784	T	G	18	57704552	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999775031597278	0.994
18	55371785	A	C	18	57704553	y	y	splicing	ATP8B1(NM_005603:exon5:c.393+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.393+2T>G;ENST00000536015:exon5:c.393+2T>G;ENST00000591728:exon4:c.295+2T>G)	.	.	0.999988247793601	0.936
18	55371785	A	G	18	57704553	y	y	splicing	ATP8B1(NM_005603:exon5:c.393+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.393+2T>C;ENST00000536015:exon5:c.393+2T>C;ENST00000591728:exon4:c.295+2T>C)	.	.	0.997082385503644	0.714
18	55371785	A	T	18	57704553	y	y	splicing	ATP8B1(NM_005603:exon5:c.393+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.393+2T>A;ENST00000536015:exon5:c.393+2T>A;ENST00000591728:exon4:c.295+2T>A)	.	.	0.999988247793601	0.936
18	55371786	C	A	18	57704554	y	y	splicing	ATP8B1(NM_005603:exon5:c.393+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.393+1G>T;ENST00000536015:exon5:c.393+1G>T;ENST00000591728:exon4:c.295+1G>T)	.	.	0.999990361384395	0.944
18	55371786	C	G	18	57704554	y	y	splicing	ATP8B1(NM_005603:exon5:c.393+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.393+1G>C;ENST00000536015:exon5:c.393+1G>C;ENST00000591728:exon4:c.295+1G>C)	.	.	0.999990361384395	0.944
18	55371786	C	T	18	57704554	y	y	splicing	ATP8B1(NM_005603:exon5:c.393+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.393+1G>A;ENST00000536015:exon5:c.393+1G>A;ENST00000591728:exon4:c.295+1G>A)	.	.	0.999990361384395	0.944
18	55371787	C	A	18	57704555	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.G393T:p.Q131H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.G393T:p.Q131H;ENSG00000081923:ENST00000536015:exon4:c.G393T:p.Q131H;	0.999993018555097	1.0
18	55371787	C	G	18	57704555	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.G393C:p.Q131H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.G393C:p.Q131H;ENSG00000081923:ENST00000536015:exon4:c.G393C:p.Q131H;	0.999997467131986	1.0
18	55371787	C	T	18	57704555	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon4:c.G393A:p.Q131Q;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.G393A:p.Q131Q;ENSG00000081923:ENST00000536015:exon4:c.G393A:p.Q131Q;	0.999989069994437	1.0
18	55371788	T	A	18	57704556	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A392T:p.Q131L;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A392T:p.Q131L;ENSG00000081923:ENST00000536015:exon4:c.A392T:p.Q131L;	0.996801960634873	0.894
18	55371788	T	C	18	57704556	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A392G:p.Q131R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A392G:p.Q131R;ENSG00000081923:ENST00000536015:exon4:c.A392G:p.Q131R;	0.997549301944994	0.852
18	55371788	T	G	18	57704556	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A392C:p.Q131P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A392C:p.Q131P;ENSG00000081923:ENST00000536015:exon4:c.A392C:p.Q131P;	0.997895419435157	0.86
18	55371789	G	A	18	57704557	y	y	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon4:c.C391T:p.Q131X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon3:c.C391T:p.Q131X;ENSG00000081923:ENST00000536015:exon4:c.C391T:p.Q131X;	0.999795181404769	0.958
18	55371789	G	C	18	57704557	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.C391G:p.Q131E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.C391G:p.Q131E;ENSG00000081923:ENST00000536015:exon4:c.C391G:p.Q131E;	0.949695669778935	0.668
18	55371789	G	T	18	57704557	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.C391A:p.Q131K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.C391A:p.Q131K;ENSG00000081923:ENST00000536015:exon4:c.C391A:p.Q131K;	0.958907618653537	0.802
18	55371899	T	A	18	57704667	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A281T:p.N94I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A281T:p.N94I;ENSG00000081923:ENST00000591728:exon3:c.A183T:p.E61D;ENSG00000081923:ENST00000536015:exon4:c.A281T:p.N94I;	2.19118830418003E-6	0.022
18	55371899	T	C	18	57704667	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A281G:p.N94S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A281G:p.N94S;ENSG00000081923:ENST00000536015:exon4:c.A281G:p.N94S;	6.90519751243848E-5	0.03
18	55371899	T	G	18	57704667	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A281C:p.N94T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A281C:p.N94T;ENSG00000081923:ENST00000591728:exon3:c.A183C:p.E61D;ENSG00000081923:ENST00000536015:exon4:c.A281C:p.N94T;	3.14748254786563E-4	0.014
18	55371900	T	A	18	57704668	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A280T:p.N94Y;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A280T:p.N94Y;ENSG00000081923:ENST00000591728:exon3:c.A182T:p.E61V;ENSG00000081923:ENST00000536015:exon4:c.A280T:p.N94Y;	0.00820657655801122	0.096
18	55371900	T	C	18	57704668	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A280G:p.N94D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A280G:p.N94D;ENSG00000081923:ENST00000591728:exon3:c.A182G:p.E61G;ENSG00000081923:ENST00000536015:exon4:c.A280G:p.N94D;	1.13516863092674E-4	0.0
18	55371900	T	G	18	57704668	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon4:c.A280C:p.N94H;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon3:c.A280C:p.N94H;ENSG00000081923:ENST00000591728:exon3:c.A182C:p.E61A;ENSG00000081923:ENST00000536015:exon4:c.A280C:p.N94H;	0.00814753578916127	0.114
18	55371901	C	A	18	57704669	y	y	splicing	ATP8B1(NM_005603:exon5:c.280-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.280-1G>T;ENST00000536015:exon5:c.280-1G>T;ENST00000591728:exon4:c.182-1G>T)	.	.	0.999989263107695	0.934
18	55371901	C	G	18	57704669	y	y	splicing	ATP8B1(NM_005603:exon5:c.280-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.280-1G>C;ENST00000536015:exon5:c.280-1G>C;ENST00000591728:exon4:c.182-1G>C)	.	.	0.999989263107695	0.934
18	55371901	C	T	18	57704669	y	y	splicing	ATP8B1(NM_005603:exon5:c.280-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.280-1G>A;ENST00000536015:exon5:c.280-1G>A;ENST00000591728:exon4:c.182-1G>A)	.	.	0.999989263107695	0.934
18	55371902	T	A	18	57704670	y	y	splicing	ATP8B1(NM_005603:exon5:c.280-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.280-2A>T;ENST00000536015:exon5:c.280-2A>T;ENST00000591728:exon4:c.182-2A>T)	.	.	0.999988247793601	0.928
18	55371902	T	C	18	57704670	y	y	splicing	ATP8B1(NM_005603:exon5:c.280-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.280-2A>G;ENST00000536015:exon5:c.280-2A>G;ENST00000591728:exon4:c.182-2A>G)	.	.	0.999988247793601	0.928
18	55371902	T	G	18	57704670	y	y	splicing	ATP8B1(NM_005603:exon5:c.280-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon4:c.280-2A>C;ENST00000536015:exon5:c.280-2A>C;ENST00000591728:exon4:c.182-2A>C)	.	.	0.999988247793601	0.928
18	55371903	G	A	18	57704671	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.292466118204761	0.08
18	55371903	G	C	18	57704671	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999934786896385	0.962
18	55371903	G	T	18	57704671	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999694610228633	0.948
18	55371904	T	A	18	57704672	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0103293271534105	0.056
18	55371904	T	C	18	57704672	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.966164726595936	0.624
18	55371904	T	G	18	57704672	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00107990515292075	0.018
18	55371905	T	A	18	57704673	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	5.76832205110614E-5	0.0
18	55371905	T	C	18	57704673	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.47374950785919E-4	0.012
18	55371905	T	G	18	57704673	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.72269319863909E-5	0.006
18	55371906	G	A	18	57704674	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00132979936445753	0.084
18	55371906	G	C	18	57704674	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.82975014849439	0.55
18	55371906	G	T	18	57704674	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.581555246544577	0.564
18	55371907	G	A	18	57704675	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.0840165957711E-4	0.058
18	55371907	G	C	18	57704675	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.138129757544357	0.172
18	55371907	G	T	18	57704675	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.244470315932414	0.146
18	55371908	A	C	18	57704676	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	7.24823223482304E-4	0.034
18	55371908	A	G	18	57704676	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.34010066713954E-5	0.004
18	55371908	A	T	18	57704676	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00679856158867012	0.054
18	55371909	A	C	18	57704677	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.244076896835122	0.37
18	55371909	A	G	18	57704677	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00242100343631787	0.06
18	55371909	A	T	18	57704677	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.214630516364442	0.366
18	55371910	A	C	18	57704678	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.534044044594264	0.486
18	55371910	A	G	18	57704678	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.74570534757196E-4	0.038
18	55371910	A	T	18	57704678	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.63832491587737	0.524
18	55371911	A	C	18	57704679	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.995769662112481	0.808
18	55371911	A	G	18	57704679	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.687736806439861	0.432
18	55371911	A	T	18	57704679	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.997126480091697	0.89
18	55371912	A	C	18	57704680	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0423007070085437	0.408
18	55371912	A	G	18	57704680	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.63770328059014E-4	0.08
18	55371912	A	T	18	57704680	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.158828853111816	0.416
18	55373714	C	A	18	57706482	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.52570757760571E-5	0.05
18	55373714	C	G	18	57706482	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.52570757760571E-5	0.052
18	55373714	C	T	18	57706482	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.37907422191152E-5	0.05
18	55373715	A	C	18	57706483	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.26628839239413E-5	0.0
18	55373715	A	G	18	57706483	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.03702991769021E-4	0.0
18	55373715	A	T	18	57706483	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.35331427207637E-4	0.002
18	55373716	A	C	18	57706484	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.103544645838954	0.372
18	55373716	A	G	18	57706484	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.351085545710316	0.458
18	55373716	A	T	18	57706484	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.605645128903472	0.466
18	55373717	C	A	18	57706485	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999987357584026	0.964
18	55373717	C	G	18	57706485	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999939228462684	0.834
18	55373717	C	T	18	57706485	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.999921585883758	0.918
18	55373718	T	A	18	57706486	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.982012030907165	0.714
18	55373718	T	C	18	57706486	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.986872409291445	0.734
18	55373718	T	G	18	57706486	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.916700828763728	0.648
18	55373719	C	A	18	57706487	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.45040446521952	0.426
18	55373719	C	G	18	57706487	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.489809552824752	0.472
18	55373719	C	T	18	57706487	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.76966784515928E-5	0.0
18	55373720	A	C	18	57706488	y	y	splicing	ATP8B1(NM_005603:exon4:c.279+2T>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.279+2T>G;ENST00000536015:exon4:c.279+2T>G)	.	.	0.999988247793601	0.93
18	55373720	A	G	18	57706488	y	y	splicing	ATP8B1(NM_005603:exon4:c.279+2T>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.279+2T>C;ENST00000536015:exon4:c.279+2T>C)	.	.	0.99991520749976	0.868
18	55373720	A	T	18	57706488	y	y	splicing	ATP8B1(NM_005603:exon4:c.279+2T>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.279+2T>A;ENST00000536015:exon4:c.279+2T>A)	.	.	0.999988247793601	0.93
18	55373721	C	A	18	57706489	y	y	splicing	ATP8B1(NM_005603:exon4:c.279+1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.279+1G>T;ENST00000536015:exon4:c.279+1G>T)	.	.	0.999989072007339	0.932
18	55373721	C	G	18	57706489	y	y	splicing	ATP8B1(NM_005603:exon4:c.279+1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.279+1G>C;ENST00000536015:exon4:c.279+1G>C)	.	.	0.999989072007339	0.932
18	55373721	C	T	18	57706489	y	y	splicing	ATP8B1(NM_005603:exon4:c.279+1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.279+1G>A;ENST00000536015:exon4:c.279+1G>A)	.	.	0.999989072007339	0.932
18	55373722	C	A	18	57706490	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon3:c.G279T:p.A93A;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.G279T:p.A93A;ENSG00000081923:ENST00000536015:exon3:c.G279T:p.A93A;	0.998322015243187	0.886
18	55373722	C	G	18	57706490	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon3:c.G279C:p.A93A;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.G279C:p.A93A;ENSG00000081923:ENST00000536015:exon3:c.G279C:p.A93A;	0.997764112266363	0.706
18	55373722	C	T	18	57706490	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon3:c.G279A:p.A93A;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.G279A:p.A93A;ENSG00000081923:ENST00000536015:exon3:c.G279A:p.A93A;	0.996693985430586	0.964
18	55373723	G	A	18	57706491	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.C278T:p.A93V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.C278T:p.A93V;ENSG00000081923:ENST00000536015:exon3:c.C278T:p.A93V;	0.994042093486993	0.828
18	55373723	G	C	18	57706491	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.C278G:p.A93G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.C278G:p.A93G;ENSG00000081923:ENST00000536015:exon3:c.C278G:p.A93G;	0.988227617716223	0.702
18	55373723	G	T	18	57706491	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.C278A:p.A93E;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.C278A:p.A93E;ENSG00000081923:ENST00000536015:exon3:c.C278A:p.A93E;	0.953718388005003	0.696
18	55373724	C	A	18	57706492	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.G277T:p.A93S;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.G277T:p.A93S;ENSG00000081923:ENST00000536015:exon3:c.G277T:p.A93S;	0.0846363143752917	0.354
18	55373724	C	G	18	57706492	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.G277C:p.A93P;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.G277C:p.A93P;ENSG00000081923:ENST00000536015:exon3:c.G277C:p.A93P;	0.0831731593012024	0.342
18	55373724	C	T	18	57706492	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.G277A:p.A93T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.G277A:p.A93T;ENSG00000081923:ENST00000536015:exon3:c.G277A:p.A93T;	0.0962455544071331	0.386
18	55373818	T	A	18	57706586	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.A183T:p.E61D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.A183T:p.E61D;ENSG00000081923:ENST00000536015:exon3:c.A183T:p.E61D;	7.93999285632336E-6	0.004
18	55373818	T	C	18	57706586	y	y	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon3:c.A183G:p.E61E;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.A183G:p.E61E;ENSG00000081923:ENST00000536015:exon3:c.A183G:p.E61E;	5.77289857890792E-5	0.022
18	55373818	T	G	18	57706586	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.A183C:p.E61D;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.A183C:p.E61D;ENSG00000081923:ENST00000536015:exon3:c.A183C:p.E61D;	9.19983176837783E-5	0.002
18	55373819	T	A	18	57706587	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.A182T:p.E61V;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.A182T:p.E61V;ENSG00000081923:ENST00000536015:exon3:c.A182T:p.E61V;	0.316708420754541	0.446
18	55373819	T	C	18	57706587	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.A182G:p.E61G;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.A182G:p.E61G;ENSG00000081923:ENST00000536015:exon3:c.A182G:p.E61G;	0.0758591537551731	0.31
18	55373819	T	G	18	57706587	y	y	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon3:c.A182C:p.E61A;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon2:c.A182C:p.E61A;ENSG00000081923:ENST00000536015:exon3:c.A182C:p.E61A;	0.185362568564102	0.426
18	55373820	C	A	18	57706588	y	y	splicing	ATP8B1(NM_005603:exon4:c.182-1G>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.182-1G>T;ENST00000536015:exon4:c.182-1G>T)	.	.	0.999989072007339	0.934
18	55373820	C	G	18	57706588	y	y	splicing	ATP8B1(NM_005603:exon4:c.182-1G>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.182-1G>C;ENST00000536015:exon4:c.182-1G>C)	.	.	0.999989072007339	0.934
18	55373820	C	T	18	57706588	y	y	splicing	ATP8B1(NM_005603:exon4:c.182-1G>A)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.182-1G>A;ENST00000536015:exon4:c.182-1G>A)	.	.	0.999989072007339	0.93
18	55373821	T	A	18	57706589	y	y	splicing	ATP8B1(NM_005603:exon4:c.182-2A>T)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.182-2A>T;ENST00000536015:exon4:c.182-2A>T)	.	.	0.999988247793601	0.926
18	55373821	T	C	18	57706589	y	y	splicing	ATP8B1(NM_005603:exon4:c.182-2A>G)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.182-2A>G;ENST00000536015:exon4:c.182-2A>G)	.	.	0.999988247793601	0.926
18	55373821	T	G	18	57706589	y	y	splicing	ATP8B1(NM_005603:exon4:c.182-2A>C)	.	.	splicing	ENSG00000081923(ENST00000283684:exon3:c.182-2A>C;ENST00000536015:exon4:c.182-2A>C)	.	.	0.999988247793601	0.926
18	55373822	T	A	18	57706590	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.42089478219887E-4	0.004
18	55373822	T	C	18	57706590	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.115202540551775	0.278
18	55373822	T	G	18	57706590	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.18557640574855E-4	0.13
18	55373823	T	A	18	57706591	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.91639466319995E-5	0.004
18	55373823	T	C	18	57706591	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.07357309514239E-5	0.0
18	55373823	T	G	18	57706591	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.50379633841191E-5	0.0
18	55373824	A	C	18	57706592	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0599537569603555	0.382
18	55373824	A	G	18	57706592	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0013817926330864	0.042
18	55373824	A	T	18	57706592	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0185203942724673	0.246
18	55373825	A	C	18	57706593	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00678466932825044	0.178
18	55373825	A	G	18	57706593	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.82455350474991E-5	0.01
18	55373825	A	T	18	57706593	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00223614734931936	0.126
18	55373826	A	C	18	57706594	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00339725392836341	0.18
18	55373826	A	G	18	57706594	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.68607549363251E-4	0.032
18	55373826	A	T	18	57706594	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.0146985842413361	0.218
18	55373827	A	C	18	57706595	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	8.74058866729727E-4	0.14
18	55373827	A	G	18	57706595	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.1560287836892E-4	0.004
18	55373827	A	T	18	57706595	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00395157677268142	0.104
18	55373828	A	C	18	57706596	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	3.44989573912752E-4	0.198
18	55373828	A	G	18	57706596	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.55606388613164E-4	0.008
18	55373828	A	T	18	57706596	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	9.65664828001152E-4	0.196
18	55373829	A	C	18	57706597	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	2.31907341367543E-4	0.084
18	55373829	A	G	18	57706597	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.28763448536908E-4	0.0
18	55373829	A	T	18	57706597	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.74560270684544E-4	0.022
18	55373830	A	C	18	57706598	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	1.0395310029518E-4	0.068
18	55373830	A	G	18	57706598	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.13486878199299E-5	0.008
18	55373830	A	T	18	57706598	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	4.57211070016672E-4	0.1
18	55373831	A	C	18	57706599	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00347097205613876	0.318
18	55373831	A	G	18	57706599	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	6.92423153793163E-4	0.05
18	55373831	A	T	18	57706599	y	y	intronic	ATP8B1	.	.	ncRNA_intronic	ENSG00000267040;ENSG00000267787	.	.	0.00322796601112841	0.328
18	55398851	G	A	18	57731619	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	2.14720235371151E-5	0.0
18	55398851	G	C	18	57731619	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	2.14720235371151E-5	0.0
18	55398851	G	T	18	57731619	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	2.14720235371151E-5	0.0
18	55398852	T	A	18	57731620	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	2.12774625334606E-5	0.01
18	55398852	T	C	18	57731620	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.88890632701169E-5	0.0
18	55398852	T	G	18	57731620	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.18588535654957E-5	0.0
18	55398853	G	A	18	57731621	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	4.05059111188853E-5	0.006
18	55398853	G	C	18	57731621	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.23960154484859E-4	0.01
18	55398853	G	T	18	57731621	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	2.73433820834838E-4	0.002
18	55398854	G	A	18	57731622	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.50342507705366E-4	0.042
18	55398854	G	C	18	57731622	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.38095682893723E-4	0.106
18	55398854	G	T	18	57731622	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	4.43613029390556E-5	0.018
18	55398855	T	A	18	57731623	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.338216108824279	0.35
18	55398855	T	C	18	57731623	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.203019598737666	0.352
18	55398855	T	G	18	57731623	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.037376654645457	0.376
18	55398856	T	A	18	57731624	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.991579397236263	0.432
18	55398856	T	C	18	57731624	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.0129267592305592	0.268
18	55398856	T	G	18	57731624	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.984942223283061	0.466
18	55398857	A	C	18	57731625	y	n	splicing	ATP8B1(NM_005603:exon3:c.181+2T>G)	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999962958601995	0.798
18	55398857	A	G	18	57731625	y	n	splicing	ATP8B1(NM_005603:exon3:c.181+2T>C)	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.908743880845129	0.552
18	55398857	A	T	18	57731625	y	n	splicing	ATP8B1(NM_005603:exon3:c.181+2T>A)	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999969712949741	0.84
18	55398858	C	A	18	57731626	y	n	splicing	ATP8B1(NM_005603:exon3:c.181+1G>T)	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999965143305126	0.86
18	55398858	C	G	18	57731626	y	n	splicing	ATP8B1(NM_005603:exon3:c.181+1G>C)	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999958003653399	0.854
18	55398858	C	T	18	57731626	y	n	splicing	ATP8B1(NM_005603:exon3:c.181+1G>A)	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999965143305126	0.87
18	55398859	C	A	18	57731627	y	n	exonic	ATP8B1	stopgain SNV	ATP8B1:NM_005603:exon2:c.G181T:p.E61X;	exonic	ENSG00000081923	stopgain SNV	ENSG00000081923:ENST00000283684:exon1:c.G181T:p.E61X;ENSG00000081923:ENST00000591728:exon2:c.G181T:p.E61X;ENSG00000081923:ENST00000536015:exon2:c.G181T:p.E61X;	0.999966939846511	0.998
18	55398859	C	G	18	57731627	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon2:c.G181C:p.E61Q;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon1:c.G181C:p.E61Q;ENSG00000081923:ENST00000591728:exon2:c.G181C:p.E61Q;ENSG00000081923:ENST00000536015:exon2:c.G181C:p.E61Q;	0.999987053790071	0.978
18	55398859	C	T	18	57731627	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon2:c.G181A:p.E61K;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon1:c.G181A:p.E61K;ENSG00000081923:ENST00000591728:exon2:c.G181A:p.E61K;ENSG00000081923:ENST00000536015:exon2:c.G181A:p.E61K;	0.999958337156824	1.0
18	55398860	T	A	18	57731628	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon2:c.A180T:p.K60N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon1:c.A180T:p.K60N;ENSG00000081923:ENST00000591728:exon2:c.A180T:p.K60N;ENSG00000081923:ENST00000536015:exon2:c.A180T:p.K60N;	0.992817823311293	0.744
18	55398860	T	C	18	57731628	y	n	exonic	ATP8B1	synonymous SNV	ATP8B1:NM_005603:exon2:c.A180G:p.K60K;	exonic	ENSG00000081923	synonymous SNV	ENSG00000081923:ENST00000283684:exon1:c.A180G:p.K60K;ENSG00000081923:ENST00000591728:exon2:c.A180G:p.K60K;ENSG00000081923:ENST00000536015:exon2:c.A180G:p.K60K;	0.988156118258714	0.68
18	55398860	T	G	18	57731628	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon2:c.A180C:p.K60N;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon1:c.A180C:p.K60N;ENSG00000081923:ENST00000591728:exon2:c.A180C:p.K60N;ENSG00000081923:ENST00000536015:exon2:c.A180C:p.K60N;	0.850017926815304	0.608
18	55398861	T	A	18	57731629	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon2:c.A179T:p.K60I;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon1:c.A179T:p.K60I;ENSG00000081923:ENST00000591728:exon2:c.A179T:p.K60I;ENSG00000081923:ENST00000536015:exon2:c.A179T:p.K60I;	0.276427150138546	0.488
18	55398861	T	C	18	57731629	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon2:c.A179G:p.K60R;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon1:c.A179G:p.K60R;ENSG00000081923:ENST00000591728:exon2:c.A179G:p.K60R;ENSG00000081923:ENST00000536015:exon2:c.A179G:p.K60R;	3.01988290644446E-4	0.006
18	55398861	T	G	18	57731629	y	n	exonic	ATP8B1	nonsynonymous SNV	ATP8B1:NM_005603:exon2:c.A179C:p.K60T;	exonic	ENSG00000081923	nonsynonymous SNV	ENSG00000081923:ENST00000283684:exon1:c.A179C:p.K60T;ENSG00000081923:ENST00000591728:exon2:c.A179C:p.K60T;ENSG00000081923:ENST00000536015:exon2:c.A179C:p.K60T;	1.18263972365351E-4	0.004
18	55399060	A	C	18	57731828	y	n	UTR5	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.00892632917679997	.
18	55399060	A	G	18	57731828	y	n	UTR5	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.00625692709403543	.
18	55399060	A	T	18	57731828	y	n	UTR5	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.00517516795528032	.
18	55399061	C	A	18	57731829	y	n	UTR5	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.830667306520653	.
18	55399061	C	G	18	57731829	y	n	UTR5	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.0990654558809417	.
18	55399061	C	T	18	57731829	y	n	UTR5	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.00945236895521421	.
18	55399062	C	A	18	57731830	y	n	splicing	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.99994969189314	.
18	55399062	C	G	18	57731830	y	n	splicing	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.99994969189314	.
18	55399062	C	T	18	57731830	y	n	splicing	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.99994969189314	.
18	55399063	T	A	18	57731831	y	n	splicing	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999959852047835	.
18	55399063	T	C	18	57731831	y	n	splicing	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999959852047835	.
18	55399063	T	G	18	57731831	y	n	splicing	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999959852047835	.
18	55399064	G	A	18	57731832	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.342225121839058	.
18	55399064	G	C	18	57731832	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.999944145584174	.
18	55399064	G	T	18	57731832	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.997779224531999	.
18	55399065	C	A	18	57731833	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.61906195924587E-4	.
18	55399065	C	G	18	57731833	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.71214008711866E-4	.
18	55399065	C	T	18	57731833	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	2.25406106089824E-4	.
18	55399066	T	A	18	57731834	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	2.90172581538958E-4	.
18	55399066	T	C	18	57731834	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.00451877665189467	.
18	55399066	T	G	18	57731834	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	8.88570391648852E-5	.
18	55399067	T	A	18	57731835	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	4.72740371506876E-5	.
18	55399067	T	C	18	57731835	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.98678527134335E-4	.
18	55399067	T	G	18	57731835	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	5.00449263812102E-5	.
18	55399068	A	C	18	57731836	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.00274562391142865	.
18	55399068	A	G	18	57731836	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.09908642677319E-4	.
18	55399068	A	T	18	57731836	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.00170499730708594	.
18	55399069	A	C	18	57731837	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	6.97667060169202E-4	.
18	55399069	A	G	18	57731837	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	2.67710519139467E-5	.
18	55399069	A	T	18	57731837	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	8.62342079172901E-4	.
18	55399070	A	C	18	57731838	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.0233620643810813	.
18	55399070	A	G	18	57731838	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.52004862437297E-4	.
18	55399070	A	T	18	57731838	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.0334875808400676	.
18	55399071	A	C	18	57731839	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	6.4088084759542E-4	.
18	55399071	A	G	18	57731839	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	5.08946404455782E-5	.
18	55399071	A	T	18	57731839	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.00130218262188114	.
18	55399072	G	A	18	57731840	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	1.31189305315524E-5	.
18	55399072	G	C	18	57731840	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	4.76463605736517E-5	.
18	55399072	G	T	18	57731840	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	6.72260721695789E-4	.
18	55399073	G	A	18	57731841	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	5.11708601943418E-5	.
18	55399073	G	C	18	57731841	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	9.0640319994439E-4	.
18	55399073	G	T	18	57731841	y	n	intronic	ATP8B1	.	.	ncRNA_exonic	ENSG00000267040;ENSG00000267787	.	.	0.0140558730565224	.
18	55407721	G	A	18	57740489	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	7.09213309395859E-4	.
18	55407721	G	C	18	57740489	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	9.48161896632544E-4	.
18	55407721	G	T	18	57740489	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	7.09213309395859E-4	.
18	55407722	A	C	18	57740490	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	3.0180149904064E-5	.
18	55407722	A	G	18	57740490	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	3.0180149904064E-5	.
18	55407722	A	T	18	57740490	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	2.256915070725E-5	.
18	55407723	T	A	18	57740491	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.6857887130806E-5	.
18	55407723	T	C	18	57740491	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.6857887130806E-5	.
18	55407723	T	G	18	57740491	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.6857887130806E-5	.
18	55407724	C	A	18	57740492	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	5.92518495561137E-5	.
18	55407724	C	G	18	57740492	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	5.4912671685738E-5	.
18	55407724	C	T	18	57740492	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	5.92518495561137E-5	.
18	55407725	C	A	18	57740493	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.84449517638164E-5	.
18	55407725	C	G	18	57740493	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.84449517638164E-5	.
18	55407725	C	T	18	57740493	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.84449517638164E-5	.
18	55407726	C	A	18	57740494	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	7.09213309395859E-4	.
18	55407726	C	G	18	57740494	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	9.48161896632544E-4	.
18	55407726	C	T	18	57740494	n	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	7.09213309395859E-4	.
18	55407727	A	C	18	57740495	n	y	intronic	ATP8B1	.	.	splicing	ENSG00000081923	.	.	3.07620641825897E-5	.
18	55407727	A	G	18	57740495	n	y	intronic	ATP8B1	.	.	splicing	ENSG00000081923	.	.	3.07620641825897E-5	.
18	55407727	A	T	18	57740495	n	y	intronic	ATP8B1	.	.	splicing	ENSG00000081923	.	.	3.31929338280547E-5	.
18	55407728	C	A	18	57740496	n	y	intronic	ATP8B1	.	.	splicing	ENSG00000081923	.	.	3.07620641825897E-5	.
18	55407728	C	G	18	57740496	n	y	intronic	ATP8B1	.	.	splicing	ENSG00000081923	.	.	1.99153316237132E-5	.
18	55407728	C	T	18	57740496	n	y	intronic	ATP8B1	.	.	splicing	ENSG00000081923	.	.	3.07620641825897E-5	.
18	55407729	C	A	18	57740497	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	6.05670308788612E-5	.
18	55407729	C	G	18	57740497	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	6.05670308788612E-5	.
18	55407729	C	T	18	57740497	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	6.05670308788612E-5	.
18	55407730	T	A	18	57740498	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	4.97864243205666E-5	.
18	55407730	T	C	18	57740498	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	3.22319008290309E-5	.
18	55407730	T	G	18	57740498	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	3.22319008290309E-5	.
18	55407731	T	A	18	57740499	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	2.61085043127738E-5	.
18	55407731	T	C	18	57740499	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	3.24923113285181E-5	.
18	55407731	T	G	18	57740499	n	y	intronic	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	3.24923113285181E-5	.
18	55470222	C	A	18	57802990	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	3.21052313169262E-5	0.0
18	55470222	C	G	18	57802990	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	3.21052313169262E-5	0.018
18	55470222	C	T	18	57802990	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.87698428322107E-5	0.002
18	55470223	T	A	18	57802991	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	8.81984393052081E-4	0.012
18	55470223	T	C	18	57802991	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.75571173068894E-4	0.006
18	55470223	T	G	18	57802991	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	4.75571173068894E-4	0.01
18	55470224	G	A	18	57802992	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	2.385171629855E-5	0.002
18	55470224	G	C	18	57802992	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	7.13613231523804E-5	0.038
18	55470224	G	T	18	57802992	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	1.10527761372856E-4	0.014
18	55470225	C	A	18	57802993	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.938744742365496	0.64
18	55470225	C	G	18	57802993	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.59669336790146	0.512
18	55470225	C	T	18	57802993	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.7986883289459	0.572
18	55470226	T	A	18	57802994	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.0403973437347766	0.194
18	55470226	T	C	18	57802994	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.0390683646129406	0.282
18	55470226	T	G	18	57802994	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.0128529330300882	0.248
18	55470227	T	A	18	57802995	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.71662222970507	0.568
18	55470227	T	C	18	57802995	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.00240633164937618	0.07
18	55470227	T	G	18	57802995	y	y	intronic	ATP8B1	.	.	intronic	ENSG00000081923	.	.	0.893181523098147	0.612
18	55470228	A	C	18	57802996	y	y	splicing	ATP8B1	.	.	splicing	ENSG00000081923	.	.	0.999967001206676	0.944
18	55470228	A	G	18	57802996	y	y	splicing	ATP8B1	.	.	splicing	ENSG00000081923	.	.	0.932867318941123	0.592
18	55470228	A	T	18	57802996	y	y	splicing	ATP8B1	.	.	splicing	ENSG00000081923	.	.	0.999967001206676	0.944
18	55470229	C	A	18	57802997	y	y	splicing	ATP8B1	.	.	splicing	ENSG00000081923	.	.	0.999938422912956	0.948
18	55470229	C	G	18	57802997	y	y	splicing	ATP8B1	.	.	splicing	ENSG00000081923	.	.	0.999938422912956	0.948
18	55470229	C	T	18	57802997	y	y	splicing	ATP8B1	.	.	splicing	ENSG00000081923	.	.	0.999938422912956	0.944
18	55470230	C	A	18	57802998	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	0.962520089079444	0.776
18	55470230	C	G	18	57802998	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	0.968326783082622	0.714
18	55470230	C	T	18	57802998	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	0.635263320392579	0.462
18	55470231	T	A	18	57802999	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	0.960482993943854	0.64
18	55470231	T	C	18	57802999	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	0.977026719781867	0.932
18	55470231	T	G	18	57802999	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	0.960214499717997	0.822
18	55470232	G	A	18	57803000	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	0.0127738021349679	0.18
18	55470232	G	C	18	57803000	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	7.77029322748451E-4	0.018
18	55470232	G	T	18	57803000	y	y	UTR5	ATP8B1	.	.	UTR5	ENSG00000081923	.	.	5.64580568886563E-4	0.02
18	55711938	G	A	18	58044706	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_015277:exon1:c.G46A:p.E16K;NEDD4L:NM_001144967:exon1:c.G46A:p.E16K;NEDD4L:NM_001243960:exon1:c.G46A:p.E16K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon1:c.G46A:p.E16K;ENSG00000049759:ENST00000256830:exon1:c.G46A:p.E16K;ENSG00000049759:ENST00000356462:exon1:c.G46A:p.E16K;ENSG00000049759:ENST00000400345:exon1:c.G46A:p.E16K;ENSG00000049759:ENST00000589054:exon1:c.G46A:p.E16K;	1.26749103011622E-5	0.002
18	55711938	G	C	18	58044706	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_015277:exon1:c.G46C:p.E16Q;NEDD4L:NM_001144967:exon1:c.G46C:p.E16Q;NEDD4L:NM_001243960:exon1:c.G46C:p.E16Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon1:c.G46C:p.E16Q;ENSG00000049759:ENST00000256830:exon1:c.G46C:p.E16Q;ENSG00000049759:ENST00000356462:exon1:c.G46C:p.E16Q;ENSG00000049759:ENST00000400345:exon1:c.G46C:p.E16Q;ENSG00000049759:ENST00000589054:exon1:c.G46C:p.E16Q;	1.36872976877809E-5	0.002
18	55711938	G	T	18	58044706	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_015277:exon1:c.G46T:p.E16X;NEDD4L:NM_001144967:exon1:c.G46T:p.E16X;NEDD4L:NM_001243960:exon1:c.G46T:p.E16X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000382850:exon1:c.G46T:p.E16X;ENSG00000049759:ENST00000256830:exon1:c.G46T:p.E16X;ENSG00000049759:ENST00000356462:exon1:c.G46T:p.E16X;ENSG00000049759:ENST00000400345:exon1:c.G46T:p.E16X;ENSG00000049759:ENST00000589054:exon1:c.G46T:p.E16X;	2.00269598269644E-4	0.226
18	55711939	A	C	18	58044707	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_015277:exon1:c.A47C:p.E16A;NEDD4L:NM_001144967:exon1:c.A47C:p.E16A;NEDD4L:NM_001243960:exon1:c.A47C:p.E16A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon1:c.A47C:p.E16A;ENSG00000049759:ENST00000256830:exon1:c.A47C:p.E16A;ENSG00000049759:ENST00000356462:exon1:c.A47C:p.E16A;ENSG00000049759:ENST00000400345:exon1:c.A47C:p.E16A;ENSG00000049759:ENST00000589054:exon1:c.A47C:p.E16A;	0.18092298227498	0.574
18	55711939	A	G	18	58044707	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_015277:exon1:c.A47G:p.E16G;NEDD4L:NM_001144967:exon1:c.A47G:p.E16G;NEDD4L:NM_001243960:exon1:c.A47G:p.E16G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon1:c.A47G:p.E16G;ENSG00000049759:ENST00000256830:exon1:c.A47G:p.E16G;ENSG00000049759:ENST00000356462:exon1:c.A47G:p.E16G;ENSG00000049759:ENST00000400345:exon1:c.A47G:p.E16G;ENSG00000049759:ENST00000589054:exon1:c.A47G:p.E16G;	0.71885533458378	0.58
18	55711939	A	T	18	58044707	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_015277:exon1:c.A47T:p.E16V;NEDD4L:NM_001144967:exon1:c.A47T:p.E16V;NEDD4L:NM_001243960:exon1:c.A47T:p.E16V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon1:c.A47T:p.E16V;ENSG00000049759:ENST00000256830:exon1:c.A47T:p.E16V;ENSG00000049759:ENST00000356462:exon1:c.A47T:p.E16V;ENSG00000049759:ENST00000400345:exon1:c.A47T:p.E16V;ENSG00000049759:ENST00000589054:exon1:c.A47T:p.E16V;	0.491825729973515	0.588
18	55711940	G	A	18	58044708	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_015277:exon1:c.G48A:p.E16E;NEDD4L:NM_001144967:exon1:c.G48A:p.E16E;NEDD4L:NM_001243960:exon1:c.G48A:p.E16E;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon1:c.G48A:p.E16E;ENSG00000049759:ENST00000256830:exon1:c.G48A:p.E16E;ENSG00000049759:ENST00000356462:exon1:c.G48A:p.E16E;ENSG00000049759:ENST00000400345:exon1:c.G48A:p.E16E;ENSG00000049759:ENST00000589054:exon1:c.G48A:p.E16E;	0.0454025969400251	0.424
18	55711940	G	C	18	58044708	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_015277:exon1:c.G48C:p.E16D;NEDD4L:NM_001144967:exon1:c.G48C:p.E16D;NEDD4L:NM_001243960:exon1:c.G48C:p.E16D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon1:c.G48C:p.E16D;ENSG00000049759:ENST00000256830:exon1:c.G48C:p.E16D;ENSG00000049759:ENST00000356462:exon1:c.G48C:p.E16D;ENSG00000049759:ENST00000400345:exon1:c.G48C:p.E16D;ENSG00000049759:ENST00000589054:exon1:c.G48C:p.E16D;	0.0579005466104472	0.586
18	55711940	G	T	18	58044708	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_015277:exon1:c.G48T:p.E16D;NEDD4L:NM_001144967:exon1:c.G48T:p.E16D;NEDD4L:NM_001243960:exon1:c.G48T:p.E16D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon1:c.G48T:p.E16D;ENSG00000049759:ENST00000256830:exon1:c.G48T:p.E16D;ENSG00000049759:ENST00000356462:exon1:c.G48T:p.E16D;ENSG00000049759:ENST00000400345:exon1:c.G48T:p.E16D;ENSG00000049759:ENST00000589054:exon1:c.G48T:p.E16D;	0.282446423414953	0.522
18	55711941	G	A	18	58044709	y	y	splicing	NEDD4L(NM_001144967:exon1:c.48+1G>A;NM_001243960:exon1:c.48+1G>A;NM_015277:exon1:c.48+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon1:c.48+1G>A;ENST00000400345:exon1:c.48+1G>A;ENST00000589054:exon1:c.48+1G>A;ENST00000382850:exon1:c.48+1G>A;ENST00000256830:exon1:c.48+1G>A)	.	.	0.999968624618023	0.764
18	55711941	G	C	18	58044709	y	y	splicing	NEDD4L(NM_001144967:exon1:c.48+1G>C;NM_001243960:exon1:c.48+1G>C;NM_015277:exon1:c.48+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon1:c.48+1G>C;ENST00000400345:exon1:c.48+1G>C;ENST00000589054:exon1:c.48+1G>C;ENST00000382850:exon1:c.48+1G>C;ENST00000256830:exon1:c.48+1G>C)	.	.	0.999968624618023	0.76
18	55711941	G	T	18	58044709	y	y	splicing	NEDD4L(NM_001144967:exon1:c.48+1G>T;NM_001243960:exon1:c.48+1G>T;NM_015277:exon1:c.48+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon1:c.48+1G>T;ENST00000400345:exon1:c.48+1G>T;ENST00000589054:exon1:c.48+1G>T;ENST00000382850:exon1:c.48+1G>T;ENST00000256830:exon1:c.48+1G>T)	.	.	0.999968624618023	0.762
18	55711942	T	A	18	58044710	y	y	splicing	NEDD4L(NM_001144967:exon1:c.48+2T>A;NM_001243960:exon1:c.48+2T>A;NM_015277:exon1:c.48+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon1:c.48+2T>A;ENST00000400345:exon1:c.48+2T>A;ENST00000589054:exon1:c.48+2T>A;ENST00000382850:exon1:c.48+2T>A;ENST00000256830:exon1:c.48+2T>A)	.	.	0.99996405191659	0.784
18	55711942	T	C	18	58044710	y	y	splicing	NEDD4L(NM_001144967:exon1:c.48+2T>C;NM_001243960:exon1:c.48+2T>C;NM_015277:exon1:c.48+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon1:c.48+2T>C;ENST00000400345:exon1:c.48+2T>C;ENST00000589054:exon1:c.48+2T>C;ENST00000382850:exon1:c.48+2T>C;ENST00000256830:exon1:c.48+2T>C)	.	.	0.999566654452854	0.656
18	55711942	T	G	18	58044710	y	y	splicing	NEDD4L(NM_001144967:exon1:c.48+2T>G;NM_001243960:exon1:c.48+2T>G;NM_015277:exon1:c.48+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon1:c.48+2T>G;ENST00000400345:exon1:c.48+2T>G;ENST00000589054:exon1:c.48+2T>G;ENST00000382850:exon1:c.48+2T>G;ENST00000256830:exon1:c.48+2T>G)	.	.	0.99996405191659	0.752
18	55711943	G	A	18	58044711	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.9573488827137E-4	0.006
18	55711943	G	C	18	58044711	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.545088792250199	0.52
18	55711943	G	T	18	58044711	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.41394786502673	0.518
18	55711944	A	C	18	58044712	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.357616078452706	0.514
18	55711944	A	G	18	58044712	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.960796667569759	0.656
18	55711944	A	T	18	58044712	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.898590518153207	0.544
18	55711945	G	A	18	58044713	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997858351008135	0.754
18	55711945	G	C	18	58044713	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998511941220226	0.8
18	55711945	G	T	18	58044713	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998991024985622	0.734
18	55711946	T	A	18	58044714	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0155066520864487	0.14
18	55711946	T	C	18	58044714	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00326092229371912	0.104
18	55711946	T	G	18	58044714	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.92360067015962E-4	0.098
18	55711947	G	A	18	58044715	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.01944998701646E-5	0.0
18	55711947	G	C	18	58044715	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.30551964575005E-5	0.0
18	55711947	G	T	18	58044715	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.63734018024452E-5	0.0
18	55711948	G	A	18	58044716	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.69305054781059E-5	0.0
18	55711948	G	C	18	58044716	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.22742148595564E-5	0.0
18	55711948	G	T	18	58044716	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.69305054781059E-5	0.0
18	55713018	G	A	18	58045786	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.0249681078020574	0.18
18	55713018	G	C	18	58045786	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.0126550339677199	0.118
18	55713018	G	T	18	58045786	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.0148218581773429	0.168
18	55713019	A	C	18	58045787	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.604724950841622	0.762
18	55713019	A	G	18	58045787	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.604724950841622	0.764
18	55713019	A	T	18	58045787	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.604724950841622	0.782
18	55713020	G	A	18	58045788	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.798866293962244	0.742
18	55713020	G	C	18	58045788	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.574093670815014	0.61
18	55713020	G	T	18	58045788	n	y	intronic	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.755751085332981	0.7
18	55713021	G	A	18	58045789	n	y	intronic	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.798866293962244	0.726
18	55713021	G	C	18	58045789	n	y	intronic	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.574093670815014	0.61
18	55713021	G	T	18	58045789	n	y	intronic	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.73130384512204	0.632
18	55713022	T	A	18	58045790	n	y	intronic	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.538460823707102	0.738
18	55713022	T	C	18	58045790	n	y	intronic	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.511464900354293	0.776
18	55713022	T	G	18	58045790	n	y	intronic	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.511464900354293	0.78
18	55713023	A	C	18	58045791	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.762
18	55713023	A	G	18	58045791	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.762
18	55713023	A	T	18	58045791	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.776
18	55713024	T	A	18	58045792	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.776
18	55713024	T	C	18	58045792	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.762
18	55713024	T	G	18	58045792	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.762
18	55713025	T	A	18	58045793	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.776
18	55713025	T	C	18	58045793	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.758
18	55713025	T	G	18	58045793	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.76
18	55713026	T	A	18	58045794	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.604724950841622	0.768
18	55713026	T	C	18	58045794	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.565690504237245	0.756
18	55713026	T	G	18	58045794	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.565690504237245	0.758
18	55713027	C	A	18	58045795	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.907343378581106	0.826
18	55713027	C	G	18	58045795	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.798866293962244	0.742
18	55713027	C	T	18	58045795	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.888083951080936	0.8
18	55713028	C	A	18	58045796	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.798866293962244	0.742
18	55713028	C	G	18	58045796	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.755751085332981	0.69
18	55713028	C	T	18	58045796	n	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.907343378581106	0.82
18	55714740	A	C	18	58047508	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	3.63419814120846E-5	0.002
18	55714740	A	G	18	58047508	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	3.63419814120846E-5	0.002
18	55714740	A	T	18	58047508	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	3.63419814120846E-5	0.002
18	55714741	A	C	18	58047509	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.93008933363103E-5	0.0
18	55714741	A	G	18	58047509	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.93008933363103E-5	0.0
18	55714741	A	T	18	58047509	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.93008933363103E-5	0.0
18	55714742	G	A	18	58047510	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	5.15941453541388E-5	0.002
18	55714742	G	C	18	58047510	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	5.15941453541388E-5	0.002
18	55714742	G	T	18	58047510	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	5.15941453541388E-5	0.002
18	55714743	G	A	18	58047511	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	2.05567792764038E-5	0.004
18	55714743	G	C	18	58047511	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	2.05567792764038E-5	0.014
18	55714743	G	T	18	58047511	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	2.05567792764038E-5	0.004
18	55714744	T	A	18	58047512	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	3.3185419153416E-5	0.006
18	55714744	T	C	18	58047512	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	4.12995356577193E-5	0.006
18	55714744	T	G	18	58047512	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	4.12995356577193E-5	0.006
18	55714745	A	C	18	58047513	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.08802802279601E-5	0.002
18	55714745	A	G	18	58047513	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.08802802279601E-5	0.002
18	55714745	A	T	18	58047513	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.49702646665041E-5	0.004
18	55714746	A	C	18	58047514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00130058252226478	0.024
18	55714746	A	G	18	58047514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00130058252226478	0.026
18	55714746	A	T	18	58047514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.93302550870721E-4	0.022
18	55714747	G	A	18	58047515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.15941453541388E-5	0.006
18	55714747	G	C	18	58047515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.15941453541388E-5	0.006
18	55714747	G	T	18	58047515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.15941453541388E-5	0.006
18	55714748	G	A	18	58047516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.85159348457159E-4	0.002
18	55714748	G	C	18	58047516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.85159348457159E-4	0.002
18	55714748	G	T	18	58047516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.85159348457159E-4	0.002
18	55714749	G	A	18	58047517	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.9469183429777E-5	0.0
18	55714749	G	C	18	58047517	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.65778582306901E-5	0.0
18	55714749	G	T	18	58047517	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.17369458176992E-5	0.0
18	55714750	G	A	18	58047518	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.7586829694842E-5	0.0
18	55714750	G	C	18	58047518	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.7586829694842E-5	0.0
18	55714750	G	T	18	58047518	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.7586829694842E-5	0.0
18	55816789	C	A	18	58149557	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon1:c.C22A:p.Q8K;NEDD4L:NM_001144968:exon1:c.C22A:p.Q8K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000357895:exon1:c.C22A:p.Q8K;ENSG00000049759:ENST00000586263:exon1:c.C22A:p.Q8K;	1.2227767809889E-4	0.004
18	55816789	C	G	18	58149557	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon1:c.C22G:p.Q8E;NEDD4L:NM_001144968:exon1:c.C22G:p.Q8E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000357895:exon1:c.C22G:p.Q8E;ENSG00000049759:ENST00000586263:exon1:c.C22G:p.Q8E;	1.44914849052477E-5	0.01
18	55816789	C	T	18	58149557	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon1:c.C22T:p.Q8X;NEDD4L:NM_001144968:exon1:c.C22T:p.Q8X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000357895:exon1:c.C22T:p.Q8X;ENSG00000049759:ENST00000586263:exon1:c.C22T:p.Q8X;	1.87461043272885E-4	0.262
18	55816790	A	C	18	58149558	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon1:c.A23C:p.Q8P;NEDD4L:NM_001144968:exon1:c.A23C:p.Q8P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000357895:exon1:c.A23C:p.Q8P;ENSG00000049759:ENST00000586263:exon1:c.A23C:p.Q8P;	4.35480018914068E-5	0.0
18	55816790	A	G	18	58149558	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon1:c.A23G:p.Q8R;NEDD4L:NM_001144968:exon1:c.A23G:p.Q8R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000357895:exon1:c.A23G:p.Q8R;ENSG00000049759:ENST00000586263:exon1:c.A23G:p.Q8R;	5.63534827835342E-5	0.0
18	55816790	A	T	18	58149558	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon1:c.A23T:p.Q8L;NEDD4L:NM_001144968:exon1:c.A23T:p.Q8L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000357895:exon1:c.A23T:p.Q8L;ENSG00000049759:ENST00000586263:exon1:c.A23T:p.Q8L;	5.28123694294252E-5	0.0
18	55816791	G	A	18	58149559	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon1:c.G24A:p.Q8Q;NEDD4L:NM_001144968:exon1:c.G24A:p.Q8Q;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000357895:exon1:c.G24A:p.Q8Q;ENSG00000049759:ENST00000586263:exon1:c.G24A:p.Q8Q;	1.35936217102188E-4	0.014
18	55816791	G	C	18	58149559	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon1:c.G24C:p.Q8H;NEDD4L:NM_001144968:exon1:c.G24C:p.Q8H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000357895:exon1:c.G24C:p.Q8H;ENSG00000049759:ENST00000586263:exon1:c.G24C:p.Q8H;	1.45383469023645E-4	0.004
18	55816791	G	T	18	58149559	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon1:c.G24T:p.Q8H;NEDD4L:NM_001144968:exon1:c.G24T:p.Q8H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000357895:exon1:c.G24T:p.Q8H;ENSG00000049759:ENST00000586263:exon1:c.G24T:p.Q8H;	1.31505043433442E-4	0.008
18	55816792	G	A	18	58149560	y	y	splicing	NEDD4L(NM_001144968:exon1:c.24+1G>A;NM_001144969:exon1:c.24+1G>A)	.	.	splicing	ENSG00000049759(ENST00000357895:exon1:c.24+1G>A;ENST00000586263:exon1:c.24+1G>A)	.	.	1.0528340005012E-4	0.036
18	55816792	G	C	18	58149560	y	y	splicing	NEDD4L(NM_001144968:exon1:c.24+1G>C;NM_001144969:exon1:c.24+1G>C)	.	.	splicing	ENSG00000049759(ENST00000357895:exon1:c.24+1G>C;ENST00000586263:exon1:c.24+1G>C)	.	.	6.07675666564794E-5	0.036
18	55816792	G	T	18	58149560	y	y	splicing	NEDD4L(NM_001144968:exon1:c.24+1G>T;NM_001144969:exon1:c.24+1G>T)	.	.	splicing	ENSG00000049759(ENST00000357895:exon1:c.24+1G>T;ENST00000586263:exon1:c.24+1G>T)	.	.	1.0528340005012E-4	0.036
18	55816793	T	A	18	58149561	y	y	splicing	NEDD4L(NM_001144968:exon1:c.24+2T>A;NM_001144969:exon1:c.24+2T>A)	.	.	splicing	ENSG00000049759(ENST00000357895:exon1:c.24+2T>A;ENST00000586263:exon1:c.24+2T>A)	.	.	1.14958399381003E-4	0.0
18	55816793	T	C	18	58149561	y	y	splicing	NEDD4L(NM_001144968:exon1:c.24+2T>C;NM_001144969:exon1:c.24+2T>C)	.	.	splicing	ENSG00000049759(ENST00000357895:exon1:c.24+2T>C;ENST00000586263:exon1:c.24+2T>C)	.	.	1.60324765012921E-4	0.006
18	55816793	T	G	18	58149561	y	y	splicing	NEDD4L(NM_001144968:exon1:c.24+2T>G;NM_001144969:exon1:c.24+2T>G)	.	.	splicing	ENSG00000049759(ENST00000357895:exon1:c.24+2T>G;ENST00000586263:exon1:c.24+2T>G)	.	.	1.60324765012921E-4	0.006
18	55816794	A	C	18	58149562	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.19053194304606E-5	0.0
18	55816794	A	G	18	58149562	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.19053194304606E-5	0.0
18	55816794	A	T	18	58149562	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	5.63534827835342E-5	0.0
18	55816795	A	C	18	58149563	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.35480018914068E-5	0.016
18	55816795	A	G	18	58149563	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.35480018914068E-5	0.008
18	55816795	A	T	18	58149563	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	5.28123694294252E-5	0.0
18	55816796	C	A	18	58149564	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.54560704112813E-4	0.002
18	55816796	C	G	18	58149564	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.54560704112813E-4	0.002
18	55816796	C	T	18	58149564	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.54560704112813E-4	0.002
18	55816797	A	C	18	58149565	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	8.4156328805987E-5	0.002
18	55816797	A	G	18	58149565	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	8.4156328805987E-5	0.002
18	55816797	A	T	18	58149565	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	8.4156328805987E-5	0.004
18	55816798	C	A	18	58149566	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.0010327499008663	0.0
18	55816798	C	G	18	58149566	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.0010327499008663	0.0
18	55816798	C	T	18	58149566	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	9.34241895422928E-4	0.0
18	55816799	T	A	18	58149567	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.11017248087976E-4	0.006
18	55816799	T	C	18	58149567	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.22733753243156E-4	0.0
18	55816799	T	G	18	58149567	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.22733753243156E-4	0.0
18	55816800	C	A	18	58149568	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.14418775914876E-4	0.004
18	55816800	C	G	18	58149568	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.25690374419159E-4	0.004
18	55816800	C	T	18	58149568	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.14418775914876E-4	0.004
18	55816801	G	A	18	58149569	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.94065525243389	0.814
18	55816801	G	C	18	58149569	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.94065525243389	0.804
18	55816801	G	T	18	58149569	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.94065525243389	0.802
18	55816802	G	A	18	58149570	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.0509402721144919	0.226
18	55816802	G	C	18	58149570	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.0510847978272511	0.216
18	55816802	G	T	18	58149570	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.0510847978272511	0.24
18	55816803	T	A	18	58149571	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.459933419765844	0.734
18	55816803	T	C	18	58149571	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.459933419765844	0.712
18	55816803	T	G	18	58149571	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.459933419765844	0.712
18	55816804	A	C	18	58149572	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.56563893168539E-5	0.114
18	55816804	A	G	18	58149572	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.56563893168539E-5	0.114
18	55816804	A	T	18	58149572	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.46853671320185E-4	0.108
18	55816805	A	C	18	58149573	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.388588088051655	0.718
18	55816805	A	G	18	58149573	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.388588088051655	0.718
18	55816805	A	T	18	58149573	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.388588088051655	0.696
18	55816806	G	A	18	58149574	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.843447288294884	0.768
18	55816806	G	C	18	58149574	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.717933265828803	0.754
18	55816806	G	T	18	58149574	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.828347793243416	0.752
18	55816807	A	C	18	58149575	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.99004746270734E-4	0.01
18	55816807	A	G	18	58149575	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.99004746270734E-4	0.006
18	55816807	A	T	18	58149575	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.99004746270734E-4	0.06
18	55816808	C	A	18	58149576	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.55450366181526E-4	0.036
18	55816808	C	G	18	58149576	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.27298432089634E-4	0.052
18	55816808	C	T	18	58149576	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.55450366181526E-4	0.032
18	55816809	T	A	18	58149577	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00173757271910963	0.062
18	55816809	T	C	18	58149577	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.44489748702665E-4	0.106
18	55816809	T	G	18	58149577	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.44489748702665E-4	0.1
18	55833008	T	A	18	58165776	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.57806035584519E-4	0.09
18	55833008	T	C	18	58165776	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.11567964199939E-5	0.01
18	55833008	T	G	18	58165776	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.82063531733534E-4	0.038
18	55833009	C	A	18	58165777	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.40921194190719E-4	0.124
18	55833009	C	G	18	58165777	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.25557170348089E-4	0.002
18	55833009	C	T	18	58165777	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.05949246672186E-5	0.0
18	55833010	C	A	18	58165778	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.86303003332226E-4	0.008
18	55833010	C	G	18	58165778	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.57982071047755E-5	0.026
18	55833010	C	T	18	58165778	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.49928645186824E-5	0.0
18	55833011	T	A	18	58165779	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.17121275673631E-4	0.076
18	55833011	T	C	18	58165779	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.01811034555547E-5	0.004
18	55833011	T	G	18	58165779	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.45593717101152E-4	0.082
18	55833012	T	A	18	58165780	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00140827860397437	0.144
18	55833012	T	C	18	58165780	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.06451312988802E-5	0.0
18	55833012	T	G	18	58165780	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.73595559293045E-4	0.09
18	55833013	C	A	18	58165781	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0227145005978634	0.086
18	55833013	C	G	18	58165781	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00428967564148839	0.102
18	55833013	C	T	18	58165781	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.77403308501339E-5	0.004
18	55833014	T	A	18	58165782	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.70276267514048E-4	0.03
18	55833014	T	C	18	58165782	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.74766122675483E-6	0.0
18	55833014	T	G	18	58165782	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00272632115568951	0.12
18	55833015	C	A	18	58165783	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.08587039968119E-5	0.02
18	55833015	C	G	18	58165783	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.35391580549369E-4	0.102
18	55833015	C	T	18	58165783	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.14146540862719E-6	0.0
18	55833016	A	C	18	58165784	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.75988734126344E-5	0.0
18	55833016	A	G	18	58165784	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.13004660386955E-5	0.002
18	55833016	A	T	18	58165784	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.14916311187404E-4	0.002
18	55833017	C	A	18	58165785	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.96819448369637	0.542
18	55833017	C	G	18	58165785	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999836873362994	0.906
18	55833017	C	T	18	58165785	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0246803390715175	0.164
18	55833018	A	C	18	58165786	y	y	splicing	NEDD4L(NM_001144967:exon2:c.49-2A>C;NM_001243960:exon2:c.49-2A>C;NM_015277:exon2:c.49-2A>C;NM_001144968:exon2:c.25-2A>C;NM_001144969:exon2:c.25-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.49-2A>C;ENST00000400345:exon2:c.49-2A>C;ENST00000382850:exon2:c.49-2A>C;ENST00000256830:exon2:c.49-2A>C;ENST00000357895:exon2:c.25-2A>C;ENST00000586263:exon2:c.25-2A>C)	.	.	0.999088516393581	0.744
18	55833018	A	G	18	58165786	y	y	splicing	NEDD4L(NM_001144967:exon2:c.49-2A>G;NM_001243960:exon2:c.49-2A>G;NM_015277:exon2:c.49-2A>G;NM_001144968:exon2:c.25-2A>G;NM_001144969:exon2:c.25-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.49-2A>G;ENST00000400345:exon2:c.49-2A>G;ENST00000382850:exon2:c.49-2A>G;ENST00000256830:exon2:c.49-2A>G;ENST00000357895:exon2:c.25-2A>G;ENST00000586263:exon2:c.25-2A>G)	.	.	0.999088516393581	0.74
18	55833018	A	T	18	58165786	y	y	splicing	NEDD4L(NM_001144967:exon2:c.49-2A>T;NM_001243960:exon2:c.49-2A>T;NM_015277:exon2:c.49-2A>T;NM_001144968:exon2:c.25-2A>T;NM_001144969:exon2:c.25-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.49-2A>T;ENST00000400345:exon2:c.49-2A>T;ENST00000382850:exon2:c.49-2A>T;ENST00000256830:exon2:c.49-2A>T;ENST00000357895:exon2:c.25-2A>T;ENST00000586263:exon2:c.25-2A>T)	.	.	0.999243362677927	0.756
18	55833019	G	A	18	58165787	y	y	splicing	NEDD4L(NM_001144967:exon2:c.49-1G>A;NM_001243960:exon2:c.49-1G>A;NM_015277:exon2:c.49-1G>A;NM_001144968:exon2:c.25-1G>A;NM_001144969:exon2:c.25-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.49-1G>A;ENST00000400345:exon2:c.49-1G>A;ENST00000382850:exon2:c.49-1G>A;ENST00000256830:exon2:c.49-1G>A;ENST00000357895:exon2:c.25-1G>A;ENST00000586263:exon2:c.25-1G>A)	.	.	0.999949962508874	0.934
18	55833019	G	C	18	58165787	y	y	splicing	NEDD4L(NM_001144967:exon2:c.49-1G>C;NM_001243960:exon2:c.49-1G>C;NM_015277:exon2:c.49-1G>C;NM_001144968:exon2:c.25-1G>C;NM_001144969:exon2:c.25-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.49-1G>C;ENST00000400345:exon2:c.49-1G>C;ENST00000382850:exon2:c.49-1G>C;ENST00000256830:exon2:c.49-1G>C;ENST00000357895:exon2:c.25-1G>C;ENST00000586263:exon2:c.25-1G>C)	.	.	0.999949962508874	0.944
18	55833019	G	T	18	58165787	y	y	splicing	NEDD4L(NM_001144967:exon2:c.49-1G>T;NM_001243960:exon2:c.49-1G>T;NM_015277:exon2:c.49-1G>T;NM_001144968:exon2:c.25-1G>T;NM_001144969:exon2:c.25-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.49-1G>T;ENST00000400345:exon2:c.49-1G>T;ENST00000382850:exon2:c.49-1G>T;ENST00000256830:exon2:c.49-1G>T;ENST00000357895:exon2:c.25-1G>T;ENST00000586263:exon2:c.25-1G>T)	.	.	0.999949962508874	0.946
18	55833020	G	A	18	58165788	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.G25A:p.G9R;NEDD4L:NM_015277:exon2:c.G49A:p.G17R;NEDD4L:NM_001144967:exon2:c.G49A:p.G17R;NEDD4L:NM_001144968:exon2:c.G25A:p.G9R;NEDD4L:NM_001243960:exon2:c.G49A:p.G17R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.G49A:p.G17R;ENSG00000049759:ENST00000256830:exon2:c.G49A:p.G17R;ENSG00000049759:ENST00000357895:exon2:c.G25A:p.G9R;ENSG00000049759:ENST00000356462:exon2:c.G49A:p.G17R;ENSG00000049759:ENST00000400345:exon2:c.G49A:p.G17R;ENSG00000049759:ENST00000586263:exon2:c.G25A:p.G9R;	0.773080341262108	0.574
18	55833020	G	C	18	58165788	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.G25C:p.G9R;NEDD4L:NM_015277:exon2:c.G49C:p.G17R;NEDD4L:NM_001144967:exon2:c.G49C:p.G17R;NEDD4L:NM_001144968:exon2:c.G25C:p.G9R;NEDD4L:NM_001243960:exon2:c.G49C:p.G17R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.G49C:p.G17R;ENSG00000049759:ENST00000256830:exon2:c.G49C:p.G17R;ENSG00000049759:ENST00000357895:exon2:c.G25C:p.G9R;ENSG00000049759:ENST00000356462:exon2:c.G49C:p.G17R;ENSG00000049759:ENST00000400345:exon2:c.G49C:p.G17R;ENSG00000049759:ENST00000586263:exon2:c.G25C:p.G9R;	0.961850779491111	0.778
18	55833020	G	T	18	58165788	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon2:c.G25T:p.G9X;NEDD4L:NM_015277:exon2:c.G49T:p.G17X;NEDD4L:NM_001144967:exon2:c.G49T:p.G17X;NEDD4L:NM_001144968:exon2:c.G25T:p.G9X;NEDD4L:NM_001243960:exon2:c.G49T:p.G17X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000382850:exon2:c.G49T:p.G17X;ENSG00000049759:ENST00000256830:exon2:c.G49T:p.G17X;ENSG00000049759:ENST00000357895:exon2:c.G25T:p.G9X;ENSG00000049759:ENST00000356462:exon2:c.G49T:p.G17X;ENSG00000049759:ENST00000400345:exon2:c.G49T:p.G17X;ENSG00000049759:ENST00000586263:exon2:c.G25T:p.G9X;	0.999596871654619	0.974
18	55833021	G	A	18	58165789	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.G26A:p.G9E;NEDD4L:NM_015277:exon2:c.G50A:p.G17E;NEDD4L:NM_001144967:exon2:c.G50A:p.G17E;NEDD4L:NM_001144968:exon2:c.G26A:p.G9E;NEDD4L:NM_001243960:exon2:c.G50A:p.G17E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.G50A:p.G17E;ENSG00000049759:ENST00000256830:exon2:c.G50A:p.G17E;ENSG00000049759:ENST00000357895:exon2:c.G26A:p.G9E;ENSG00000049759:ENST00000356462:exon2:c.G50A:p.G17E;ENSG00000049759:ENST00000400345:exon2:c.G50A:p.G17E;ENSG00000049759:ENST00000586263:exon2:c.G26A:p.G9E;	9.41495378413071E-5	0.016
18	55833021	G	C	18	58165789	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.G26C:p.G9A;NEDD4L:NM_015277:exon2:c.G50C:p.G17A;NEDD4L:NM_001144967:exon2:c.G50C:p.G17A;NEDD4L:NM_001144968:exon2:c.G26C:p.G9A;NEDD4L:NM_001243960:exon2:c.G50C:p.G17A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.G50C:p.G17A;ENSG00000049759:ENST00000256830:exon2:c.G50C:p.G17A;ENSG00000049759:ENST00000357895:exon2:c.G26C:p.G9A;ENSG00000049759:ENST00000356462:exon2:c.G50C:p.G17A;ENSG00000049759:ENST00000400345:exon2:c.G50C:p.G17A;ENSG00000049759:ENST00000586263:exon2:c.G26C:p.G9A;	6.22638723190879E-4	0.004
18	55833021	G	T	18	58165789	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.G26T:p.G9V;NEDD4L:NM_015277:exon2:c.G50T:p.G17V;NEDD4L:NM_001144967:exon2:c.G50T:p.G17V;NEDD4L:NM_001144968:exon2:c.G26T:p.G9V;NEDD4L:NM_001243960:exon2:c.G50T:p.G17V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.G50T:p.G17V;ENSG00000049759:ENST00000256830:exon2:c.G50T:p.G17V;ENSG00000049759:ENST00000357895:exon2:c.G26T:p.G9V;ENSG00000049759:ENST00000356462:exon2:c.G50T:p.G17V;ENSG00000049759:ENST00000400345:exon2:c.G50T:p.G17V;ENSG00000049759:ENST00000586263:exon2:c.G26T:p.G9V;	5.46273277901423E-4	0.004
18	55833091	C	A	18	58165859	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon2:c.C96A:p.A32A;NEDD4L:NM_015277:exon2:c.C120A:p.A40A;NEDD4L:NM_001144967:exon2:c.C120A:p.A40A;NEDD4L:NM_001144968:exon2:c.C96A:p.A32A;NEDD4L:NM_001243960:exon2:c.C120A:p.A40A;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.C120A:p.A40A;ENSG00000049759:ENST00000256830:exon2:c.C120A:p.A40A;ENSG00000049759:ENST00000357895:exon2:c.C96A:p.A32A;ENSG00000049759:ENST00000356462:exon2:c.C120A:p.A40A;ENSG00000049759:ENST00000400345:exon2:c.C120A:p.A40A;ENSG00000049759:ENST00000586263:exon2:c.C96A:p.A32A;	0.0735562067734166	0.234
18	55833091	C	G	18	58165859	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon2:c.C96G:p.A32A;NEDD4L:NM_015277:exon2:c.C120G:p.A40A;NEDD4L:NM_001144967:exon2:c.C120G:p.A40A;NEDD4L:NM_001144968:exon2:c.C96G:p.A32A;NEDD4L:NM_001243960:exon2:c.C120G:p.A40A;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.C120G:p.A40A;ENSG00000049759:ENST00000256830:exon2:c.C120G:p.A40A;ENSG00000049759:ENST00000357895:exon2:c.C96G:p.A32A;ENSG00000049759:ENST00000356462:exon2:c.C120G:p.A40A;ENSG00000049759:ENST00000400345:exon2:c.C120G:p.A40A;ENSG00000049759:ENST00000586263:exon2:c.C96G:p.A32A;	0.0183218254660409	0.162
18	55833091	C	T	18	58165859	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon2:c.C96T:p.A32A;NEDD4L:NM_015277:exon2:c.C120T:p.A40A;NEDD4L:NM_001144967:exon2:c.C120T:p.A40A;NEDD4L:NM_001144968:exon2:c.C96T:p.A32A;NEDD4L:NM_001243960:exon2:c.C120T:p.A40A;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.C120T:p.A40A;ENSG00000049759:ENST00000256830:exon2:c.C120T:p.A40A;ENSG00000049759:ENST00000357895:exon2:c.C96T:p.A32A;ENSG00000049759:ENST00000356462:exon2:c.C120T:p.A40A;ENSG00000049759:ENST00000400345:exon2:c.C120T:p.A40A;ENSG00000049759:ENST00000586263:exon2:c.C96T:p.A32A;	0.721362945832913	0.504
18	55833092	A	C	18	58165860	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.A97C:p.S33R;NEDD4L:NM_015277:exon2:c.A121C:p.S41R;NEDD4L:NM_001144967:exon2:c.A121C:p.S41R;NEDD4L:NM_001144968:exon2:c.A97C:p.S33R;NEDD4L:NM_001243960:exon2:c.A121C:p.S41R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.A121C:p.S41R;ENSG00000049759:ENST00000256830:exon2:c.A121C:p.S41R;ENSG00000049759:ENST00000357895:exon2:c.A97C:p.S33R;ENSG00000049759:ENST00000356462:exon2:c.A121C:p.S41R;ENSG00000049759:ENST00000400345:exon2:c.A121C:p.S41R;ENSG00000049759:ENST00000586263:exon2:c.A97C:p.S33R;	0.998808269485318	0.942
18	55833092	A	G	18	58165860	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.A97G:p.S33G;NEDD4L:NM_015277:exon2:c.A121G:p.S41G;NEDD4L:NM_001144967:exon2:c.A121G:p.S41G;NEDD4L:NM_001144968:exon2:c.A97G:p.S33G;NEDD4L:NM_001243960:exon2:c.A121G:p.S41G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.A121G:p.S41G;ENSG00000049759:ENST00000256830:exon2:c.A121G:p.S41G;ENSG00000049759:ENST00000357895:exon2:c.A97G:p.S33G;ENSG00000049759:ENST00000356462:exon2:c.A121G:p.S41G;ENSG00000049759:ENST00000400345:exon2:c.A121G:p.S41G;ENSG00000049759:ENST00000586263:exon2:c.A97G:p.S33G;	0.999634604864267	0.952
18	55833092	A	T	18	58165860	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.A97T:p.S33C;NEDD4L:NM_015277:exon2:c.A121T:p.S41C;NEDD4L:NM_001144967:exon2:c.A121T:p.S41C;NEDD4L:NM_001144968:exon2:c.A97T:p.S33C;NEDD4L:NM_001243960:exon2:c.A121T:p.S41C;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.A121T:p.S41C;ENSG00000049759:ENST00000256830:exon2:c.A121T:p.S41C;ENSG00000049759:ENST00000357895:exon2:c.A97T:p.S33C;ENSG00000049759:ENST00000356462:exon2:c.A121T:p.S41C;ENSG00000049759:ENST00000400345:exon2:c.A121T:p.S41C;ENSG00000049759:ENST00000586263:exon2:c.A97T:p.S33C;	0.9996834499711	0.978
18	55833093	G	A	18	58165861	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.G98A:p.S33N;NEDD4L:NM_015277:exon2:c.G122A:p.S41N;NEDD4L:NM_001144967:exon2:c.G122A:p.S41N;NEDD4L:NM_001144968:exon2:c.G98A:p.S33N;NEDD4L:NM_001243960:exon2:c.G122A:p.S41N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.G122A:p.S41N;ENSG00000049759:ENST00000256830:exon2:c.G122A:p.S41N;ENSG00000049759:ENST00000357895:exon2:c.G98A:p.S33N;ENSG00000049759:ENST00000356462:exon2:c.G122A:p.S41N;ENSG00000049759:ENST00000400345:exon2:c.G122A:p.S41N;ENSG00000049759:ENST00000586263:exon2:c.G98A:p.S33N;	0.999954682984969	0.996
18	55833093	G	C	18	58165861	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.G98C:p.S33T;NEDD4L:NM_015277:exon2:c.G122C:p.S41T;NEDD4L:NM_001144967:exon2:c.G122C:p.S41T;NEDD4L:NM_001144968:exon2:c.G98C:p.S33T;NEDD4L:NM_001243960:exon2:c.G122C:p.S41T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.G122C:p.S41T;ENSG00000049759:ENST00000256830:exon2:c.G122C:p.S41T;ENSG00000049759:ENST00000357895:exon2:c.G98C:p.S33T;ENSG00000049759:ENST00000356462:exon2:c.G122C:p.S41T;ENSG00000049759:ENST00000400345:exon2:c.G122C:p.S41T;ENSG00000049759:ENST00000586263:exon2:c.G98C:p.S33T;	0.999983982008884	0.994
18	55833093	G	T	18	58165861	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon2:c.G98T:p.S33I;NEDD4L:NM_015277:exon2:c.G122T:p.S41I;NEDD4L:NM_001144967:exon2:c.G122T:p.S41I;NEDD4L:NM_001144968:exon2:c.G98T:p.S33I;NEDD4L:NM_001243960:exon2:c.G122T:p.S41I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon2:c.G122T:p.S41I;ENSG00000049759:ENST00000256830:exon2:c.G122T:p.S41I;ENSG00000049759:ENST00000357895:exon2:c.G98T:p.S33I;ENSG00000049759:ENST00000356462:exon2:c.G122T:p.S41I;ENSG00000049759:ENST00000400345:exon2:c.G122T:p.S41I;ENSG00000049759:ENST00000586263:exon2:c.G98T:p.S33I;	0.999983002167783	0.992
18	55833094	G	A	18	58165862	y	y	splicing	NEDD4L(NM_001144967:exon2:c.122+1G>A;NM_001243960:exon2:c.122+1G>A;NM_015277:exon2:c.122+1G>A;NM_001144968:exon2:c.98+1G>A;NM_001144969:exon2:c.98+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.122+1G>A;ENST00000400345:exon2:c.122+1G>A;ENST00000382850:exon2:c.122+1G>A;ENST00000256830:exon2:c.122+1G>A;ENST00000357895:exon2:c.98+1G>A;ENST00000586263:exon2:c.98+1G>A)	.	.	0.999989072007339	0.934
18	55833094	G	C	18	58165862	y	y	splicing	NEDD4L(NM_001144967:exon2:c.122+1G>C;NM_001243960:exon2:c.122+1G>C;NM_015277:exon2:c.122+1G>C;NM_001144968:exon2:c.98+1G>C;NM_001144969:exon2:c.98+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.122+1G>C;ENST00000400345:exon2:c.122+1G>C;ENST00000382850:exon2:c.122+1G>C;ENST00000256830:exon2:c.122+1G>C;ENST00000357895:exon2:c.98+1G>C;ENST00000586263:exon2:c.98+1G>C)	.	.	0.999989072007339	0.934
18	55833094	G	T	18	58165862	y	y	splicing	NEDD4L(NM_001144967:exon2:c.122+1G>T;NM_001243960:exon2:c.122+1G>T;NM_015277:exon2:c.122+1G>T;NM_001144968:exon2:c.98+1G>T;NM_001144969:exon2:c.98+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.122+1G>T;ENST00000400345:exon2:c.122+1G>T;ENST00000382850:exon2:c.122+1G>T;ENST00000256830:exon2:c.122+1G>T;ENST00000357895:exon2:c.98+1G>T;ENST00000586263:exon2:c.98+1G>T)	.	.	0.999989072007339	0.934
18	55833095	T	A	18	58165863	y	y	splicing	NEDD4L(NM_001144967:exon2:c.122+2T>A;NM_001243960:exon2:c.122+2T>A;NM_015277:exon2:c.122+2T>A;NM_001144968:exon2:c.98+2T>A;NM_001144969:exon2:c.98+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.122+2T>A;ENST00000400345:exon2:c.122+2T>A;ENST00000382850:exon2:c.122+2T>A;ENST00000256830:exon2:c.122+2T>A;ENST00000357895:exon2:c.98+2T>A;ENST00000586263:exon2:c.98+2T>A)	.	.	0.999988247793601	0.932
18	55833095	T	C	18	58165863	y	y	splicing	NEDD4L(NM_001144967:exon2:c.122+2T>C;NM_001243960:exon2:c.122+2T>C;NM_015277:exon2:c.122+2T>C;NM_001144968:exon2:c.98+2T>C;NM_001144969:exon2:c.98+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.122+2T>C;ENST00000400345:exon2:c.122+2T>C;ENST00000382850:exon2:c.122+2T>C;ENST00000256830:exon2:c.122+2T>C;ENST00000357895:exon2:c.98+2T>C;ENST00000586263:exon2:c.98+2T>C)	.	.	0.993826129542482	0.644
18	55833095	T	G	18	58165863	y	y	splicing	NEDD4L(NM_001144967:exon2:c.122+2T>G;NM_001243960:exon2:c.122+2T>G;NM_015277:exon2:c.122+2T>G;NM_001144968:exon2:c.98+2T>G;NM_001144969:exon2:c.98+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon2:c.122+2T>G;ENST00000400345:exon2:c.122+2T>G;ENST00000382850:exon2:c.122+2T>G;ENST00000256830:exon2:c.122+2T>G;ENST00000357895:exon2:c.98+2T>G;ENST00000586263:exon2:c.98+2T>G)	.	.	0.999988247793601	0.932
18	55833096	A	C	18	58165864	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99944115372323	0.888
18	55833096	A	G	18	58165864	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998705854483768	0.894
18	55833096	A	T	18	58165864	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999600614703824	0.908
18	55833097	T	A	18	58165865	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.7159331930456E-5	0.01
18	55833097	T	C	18	58165865	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.07975553391159E-4	0.024
18	55833097	T	G	18	58165865	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.72674170358372E-5	0.01
18	55833098	G	A	18	58165866	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997522198766038	0.768
18	55833098	G	C	18	58165866	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996874127320036	0.776
18	55833098	G	T	18	58165866	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998409874702302	0.73
18	55833099	T	A	18	58165867	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.608089180607652	0.384
18	55833099	T	C	18	58165867	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.241321430385554	0.356
18	55833099	T	G	18	58165867	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.131266140732594	0.306
18	55833100	T	A	18	58165868	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.70882649904779E-4	0.0
18	55833100	T	C	18	58165868	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.8830870135421E-4	0.012
18	55833100	T	G	18	58165868	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.09543344301186E-4	0.016
18	55833101	G	A	18	58165869	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.50707146118742E-4	0.004
18	55833101	G	C	18	58165869	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.55233626830096E-5	0.0
18	55833101	G	T	18	58165869	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.55233626830096E-5	0.0
18	55862963	C	A	18	58195731	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	9.7057495309074E-4	0.002
18	55862963	C	G	18	58195731	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.00112105296231836	0.004
18	55862963	C	T	18	58195731	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	9.97503651702036E-4	0.002
18	55862964	T	A	18	58195732	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.96837608660434E-4	0.016
18	55862964	T	C	18	58195732	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.87809060625718E-4	0.02
18	55862964	T	G	18	58195732	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.87809060625718E-4	0.02
18	55862965	G	A	18	58195733	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.453181238297093	0.586
18	55862965	G	C	18	58195733	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.309964785666895	0.46
18	55862965	G	T	18	58195733	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.309964785666895	0.446
18	55862966	G	A	18	58195734	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.954014424103805	0.802
18	55862966	G	C	18	58195734	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.954014424103805	0.794
18	55862966	G	T	18	58195734	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.954014424103805	0.806
18	55862967	T	A	18	58195735	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.432280797039901	0.756
18	55862967	T	C	18	58195735	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.432280797039901	0.73
18	55862967	T	G	18	58195735	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.432280797039901	0.73
18	55862968	A	C	18	58195736	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00441569569744403	0.138
18	55862968	A	G	18	58195736	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00441569569744403	0.136
18	55862968	A	T	18	58195736	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0222254700133601	0.276
18	55862969	A	C	18	58195737	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00441569569744403	0.05
18	55862969	A	G	18	58195737	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00441569569744403	0.05
18	55862969	A	T	18	58195737	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00441569569744403	0.134
18	55862970	G	A	18	58195738	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0183997727187267	0.036
18	55862970	G	C	18	58195738	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0107870392355283	0.044
18	55862970	G	T	18	58195738	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0183997727187267	0.042
18	55862971	T	A	18	58195739	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00234954535167801	0.04
18	55862971	T	C	18	58195739	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00234954535167801	0.03
18	55862971	T	G	18	58195739	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00234954535167801	0.03
18	55862972	G	A	18	58195740	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.12967705479703E-5	0.0
18	55862972	G	C	18	58195740	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.12967705479703E-5	0.0
18	55862972	G	T	18	58195740	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.12967705479703E-5	0.0
18	55862973	C	A	18	58195741	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.58461283867531E-5	0.006
18	55862973	C	G	18	58195741	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.58461283867531E-5	0.006
18	55862973	C	T	18	58195741	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.58461283867531E-5	0.006
18	55888987	T	A	18	58221755	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.36518699010836E-4	0.006
18	55888987	T	C	18	58221755	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	9.64454637883965E-5	0.002
18	55888987	T	G	18	58221755	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	9.64454637883965E-5	0.002
18	55888988	A	C	18	58221756	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.92961721136914	0.814
18	55888988	A	G	18	58221756	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.92961721136914	0.816
18	55888988	A	T	18	58221756	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.92961721136914	0.814
18	55888989	G	A	18	58221757	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.993733916693694	0.872
18	55888989	G	C	18	58221757	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.992648088255867	0.862
18	55888989	G	T	18	58221757	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	0.993733916693694	0.87
18	55888990	G	A	18	58221758	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.995030058536757	0.9
18	55888990	G	C	18	58221758	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.995030058536757	0.89
18	55888990	G	T	18	58221758	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.995030058536757	0.892
18	55888991	T	A	18	58221759	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.943420802424773	0.846
18	55888991	T	C	18	58221759	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.943420802424773	0.832
18	55888991	T	G	18	58221759	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	0.943420802424773	0.832
18	55888992	A	C	18	58221760	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.92961721136914	0.808
18	55888992	A	G	18	58221760	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.92961721136914	0.804
18	55888992	A	T	18	58221760	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.92961721136914	0.816
18	55888993	A	C	18	58221761	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.024451511208118	0.198
18	55888993	A	G	18	58221761	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.024451511208118	0.198
18	55888993	A	T	18	58221761	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0271718039049261	0.186
18	55888994	G	A	18	58221762	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.992648088255867	0.866
18	55888994	G	C	18	58221762	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.988749064880837	0.876
18	55888994	G	T	18	58221762	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.986152223221829	0.856
18	55888995	A	C	18	58221763	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00160087005679382	0.046
18	55888995	A	G	18	58221763	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00160087005679382	0.046
18	55888995	A	T	18	58221763	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00233447747665187	0.092
18	55888996	A	C	18	58221764	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00211112801344148	0.046
18	55888996	A	G	18	58221764	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00211112801344148	0.046
18	55888996	A	T	18	58221764	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00307784307879549	0.092
18	55888997	C	A	18	58221765	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00870650430444743	0.044
18	55888997	C	G	18	58221765	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00510915707163683	0.084
18	55888997	C	T	18	58221765	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00870650430444743	0.044
18	55895050	C	A	18	58227818	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.206711987083808	0.406
18	55895050	C	G	18	58227818	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.187930925271195	0.384
18	55895050	C	T	18	58227818	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.206711987083808	0.456
18	55895051	T	A	18	58227819	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.847852932600146	0.798
18	55895051	T	C	18	58227819	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.803133416089577	0.75
18	55895051	T	G	18	58227819	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.803133416089577	0.75
18	55895052	T	A	18	58227820	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.28051689324516E-4	0.124
18	55895052	T	C	18	58227820	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.13726597090133E-4	0.106
18	55895052	T	G	18	58227820	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.13726597090133E-4	0.108
18	55895053	C	A	18	58227821	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.40117674391659E-5	0.024
18	55895053	C	G	18	58227821	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.07495937707216E-5	0.032
18	55895053	C	T	18	58227821	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.40117674391659E-5	0.026
18	55895054	T	A	18	58227822	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.09332237519757E-5	0.012
18	55895054	T	C	18	58227822	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.09332237519757E-5	0.012
18	55895054	T	G	18	58227822	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.09332237519757E-5	0.012
18	55895055	C	A	18	58227823	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00162232908052711	0.052
18	55895055	C	G	18	58227823	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.09458095968631E-4	0.056
18	55895055	C	T	18	58227823	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00159610464863394	0.052
18	55895056	T	A	18	58227824	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.09069125317345E-4	0.012
18	55895056	T	C	18	58227824	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.07902708129146E-4	0.01
18	55895056	T	G	18	58227824	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.07902708129146E-4	0.006
18	55895057	T	A	18	58227825	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00251448584150188	0.018
18	55895057	T	C	18	58227825	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00251448584150188	0.034
18	55895057	T	G	18	58227825	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00251448584150188	0.022
18	55895058	T	A	18	58227826	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.11657407965104E-4	0.006
18	55895058	T	C	18	58227826	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.37205498882069E-5	0.0
18	55895058	T	G	18	58227826	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.37205498882069E-5	0.0
18	55895059	C	A	18	58227827	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.74480241737554E-4	0.0
18	55895059	C	G	18	58227827	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.74480241737554E-4	0.0
18	55895059	C	T	18	58227827	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.74480241737554E-4	0.0
18	55895060	A	C	18	58227828	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	1.10275622159801E-5	0.0
18	55895060	A	G	18	58227828	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	1.10275622159801E-5	0.0
18	55895060	A	T	18	58227828	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	1.70337218186484E-5	0.0
18	55895061	G	A	18	58227829	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	1.11856072983444E-4	0.024
18	55895061	G	C	18	58227829	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	9.61306222311103E-5	0.024
18	55895061	G	T	18	58227829	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	9.61306222311103E-5	0.024
18	55895062	C	A	18	58227830	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	5.8840742393182E-5	0.002
18	55895062	C	G	18	58227830	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	7.10138825602451E-5	0.002
18	55895062	C	T	18	58227830	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	5.8840742393182E-5	0.002
18	55895063	T	A	18	58227831	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	8.16602419096015E-4	0.006
18	55895063	T	C	18	58227831	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.88864756717333E-4	0.006
18	55895063	T	G	18	58227831	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.88864756717333E-4	0.01
18	55895118	A	C	18	58227886	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.09774573448081E-5	0.004
18	55895118	A	G	18	58227886	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.09774573448081E-5	0.004
18	55895118	A	T	18	58227886	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.09774573448081E-5	0.006
18	55895119	G	A	18	58227887	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.270921211638E-5	0.012
18	55895119	G	C	18	58227887	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.64191646885158E-5	0.01
18	55895119	G	T	18	58227887	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.64191646885158E-5	0.01
18	55895120	T	A	18	58227888	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.62951115444098E-5	0.0
18	55895120	T	C	18	58227888	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.62951115444098E-5	0.0
18	55895120	T	G	18	58227888	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.62951115444098E-5	0.0
18	55895121	G	A	18	58227889	n	y	UTR5	NEDD4L	.	.	splicing	ENSG00000049759	.	.	1.68195518907782E-5	0.0
18	55895121	G	C	18	58227889	n	y	UTR5	NEDD4L	.	.	splicing	ENSG00000049759	.	.	1.68195518907782E-5	0.0
18	55895121	G	T	18	58227889	n	y	UTR5	NEDD4L	.	.	splicing	ENSG00000049759	.	.	1.68195518907782E-5	0.0
18	55895122	T	A	18	58227890	n	y	UTR5	NEDD4L	.	.	splicing	ENSG00000049759	.	.	2.13503796622452E-5	0.0
18	55895122	T	C	18	58227890	n	y	UTR5	NEDD4L	.	.	splicing	ENSG00000049759	.	.	2.13503796622452E-5	0.0
18	55895122	T	G	18	58227890	n	y	UTR5	NEDD4L	.	.	splicing	ENSG00000049759	.	.	2.13503796622452E-5	0.0
18	55895123	G	A	18	58227891	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	3.94046795788308E-5	0.03
18	55895123	G	C	18	58227891	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.55106305034092E-5	0.058
18	55895123	G	T	18	58227891	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.55106305034092E-5	0.032
18	55895124	A	C	18	58227892	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.4631346304159E-5	0.008
18	55895124	A	G	18	58227892	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.4631346304159E-5	0.008
18	55895124	A	T	18	58227892	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.4631346304159E-5	0.008
18	55895125	G	A	18	58227893	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	3.94046795788308E-5	0.03
18	55895125	G	C	18	58227893	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.55106305034092E-5	0.05
18	55895125	G	T	18	58227893	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	3.94046795788308E-5	0.032
18	55895126	T	A	18	58227894	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.45277156108894E-5	0.0
18	55895126	T	C	18	58227894	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.45277156108894E-5	0.0
18	55895126	T	G	18	58227894	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	2.45277156108894E-5	0.0
18	55895127	C	A	18	58227895	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.59660858139777E-5	0.004
18	55895127	C	G	18	58227895	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.59660858139777E-5	0.006
18	55895127	C	T	18	58227895	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	1.59660858139777E-5	0.004
18	55895128	T	A	18	58227896	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	9.54583771157E-5	0.0
18	55895128	T	C	18	58227896	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	9.54583771157E-5	0.0
18	55895128	T	G	18	58227896	n	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	9.54583771157E-5	0.0
18	55895137	C	A	18	58227905	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.89210916601576E-5	0.002
18	55895137	C	G	18	58227905	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.89210916601576E-5	0.002
18	55895137	C	T	18	58227905	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.89210916601576E-5	0.002
18	55895138	A	C	18	58227906	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.11713759611921E-5	0.0
18	55895138	A	G	18	58227906	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	4.11713759611921E-5	0.0
18	55895138	A	T	18	58227906	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	7.48306501328221E-5	0.0
18	55895139	A	C	18	58227907	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	3.77218976009004E-4	0.002
18	55895139	A	G	18	58227907	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	3.77218976009004E-4	0.002
18	55895139	A	T	18	58227907	y	y	UTR5	NEDD4L	.	.	UTR5	ENSG00000049759	.	.	6.79921064767686E-4	0.004
18	55895140	G	A	18	58227908	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	4.35513354136389E-5	0.004
18	55895140	G	C	18	58227908	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	4.35513354136389E-5	0.006
18	55895140	G	T	18	58227908	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	4.35513354136389E-5	0.004
18	55895141	T	A	18	58227909	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	8.25896182624293E-5	0.0
18	55895141	T	C	18	58227909	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	8.25896182624293E-5	0.0
18	55895141	T	G	18	58227909	y	y	splicing	NEDD4L	.	.	splicing	ENSG00000049759	.	.	8.25896182624293E-5	0.0
18	55895142	A	C	18	58227910	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.26265784421591E-4	0.018
18	55895142	A	G	18	58227910	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.26265784421591E-4	0.018
18	55895142	A	T	18	58227910	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.81470676885053E-4	0.018
18	55895143	A	C	18	58227911	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.87698428322107E-5	0.002
18	55895143	A	G	18	58227911	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.87698428322107E-5	0.002
18	55895143	A	T	18	58227911	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.87698428322107E-5	0.002
18	55895144	G	A	18	58227912	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.15941453541388E-5	0.012
18	55895144	G	C	18	58227912	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.89925739660516E-5	0.004
18	55895144	G	T	18	58227912	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.89925739660516E-5	0.006
18	55895145	G	A	18	58227913	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00175895170702594	0.032
18	55895145	G	C	18	58227913	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.48820865875069E-4	0.032
18	55895145	G	T	18	58227913	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00175895170702594	0.032
18	55895146	C	A	18	58227914	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.52932449848953E-5	0.008
18	55895146	C	G	18	58227914	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.52932449848953E-5	0.008
18	55895146	C	T	18	58227914	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.75289494538373E-5	0.008
18	55895147	T	A	18	58227915	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.85062238621114E-5	0.002
18	55895147	T	C	18	58227915	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.44656497212392E-5	0.002
18	55895147	T	G	18	58227915	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.44656497212392E-5	0.002
18	55912647	A	C	18	58245415	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.60139254705156E-5	0.002
18	55912647	A	G	18	58245415	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.36830347491173E-4	0.006
18	55912647	A	T	18	58245415	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.14818988266566E-5	0.004
18	55912648	T	A	18	58245416	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999717103066861	0.972
18	55912648	T	C	18	58245416	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996893499655476	0.734
18	55912648	T	G	18	58245416	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999987428461705	0.978
18	55912649	T	A	18	58245417	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99902292719461	0.934
18	55912649	T	C	18	58245417	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.79370362749181	0.494
18	55912649	T	G	18	58245417	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998971140014902	0.858
18	55912650	T	A	18	58245418	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.907325599701521	0.63
18	55912650	T	C	18	58245418	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0108280483963449	0.16
18	55912650	T	G	18	58245418	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.851749627764717	0.62
18	55912651	T	A	18	58245419	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0937990705938333	0.336
18	55912651	T	C	18	58245419	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.32646640614441E-5	0.0
18	55912651	T	G	18	58245419	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.265980971916565	0.438
18	55912652	C	A	18	58245420	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.335162592999119	0.242
18	55912652	C	G	18	58245420	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.134131253577075	0.146
18	55912652	C	T	18	58245420	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00273567239138847	0.078
18	55912653	T	A	18	58245421	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.994662957824502	0.894
18	55912653	T	C	18	58245421	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.127382218296427	0.466
18	55912653	T	G	18	58245421	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997188677223747	0.914
18	55912654	T	A	18	58245422	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.994478528246765	0.89
18	55912654	T	C	18	58245422	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.770233889447022	0.436
18	55912654	T	G	18	58245422	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.994644411360822	0.912
18	55912655	A	C	18	58245423	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.7328372417666E-4	0.02
18	55912655	A	G	18	58245423	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.89931687199539E-4	0.11
18	55912655	A	T	18	58245423	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.22770322594517E-4	0.02
18	55912656	C	A	18	58245424	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998169686322332	0.936
18	55912656	C	G	18	58245424	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999898959799001	0.964
18	55912656	C	T	18	58245424	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.242046523898628	0.308
18	55912657	A	C	18	58245425	y	y	splicing	NEDD4L(NM_001144967:exon3:c.123-2A>C;NM_001243960:exon3:c.123-2A>C;NM_015277:exon3:c.123-2A>C;NM_001144968:exon3:c.99-2A>C;NM_001144969:exon3:c.99-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.123-2A>C;ENST00000400345:exon3:c.123-2A>C;ENST00000382850:exon3:c.123-2A>C;ENST00000256830:exon3:c.123-2A>C;ENST00000357895:exon3:c.99-2A>C;ENST00000586263:exon3:c.99-2A>C)	.	.	0.999988247793601	0.93
18	55912657	A	G	18	58245425	y	y	splicing	NEDD4L(NM_001144967:exon3:c.123-2A>G;NM_001243960:exon3:c.123-2A>G;NM_015277:exon3:c.123-2A>G;NM_001144968:exon3:c.99-2A>G;NM_001144969:exon3:c.99-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.123-2A>G;ENST00000400345:exon3:c.123-2A>G;ENST00000382850:exon3:c.123-2A>G;ENST00000256830:exon3:c.123-2A>G;ENST00000357895:exon3:c.99-2A>G;ENST00000586263:exon3:c.99-2A>G)	.	.	0.999988247793601	0.93
18	55912657	A	T	18	58245425	y	y	splicing	NEDD4L(NM_001144967:exon3:c.123-2A>T;NM_001243960:exon3:c.123-2A>T;NM_015277:exon3:c.123-2A>T;NM_001144968:exon3:c.99-2A>T;NM_001144969:exon3:c.99-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.123-2A>T;ENST00000400345:exon3:c.123-2A>T;ENST00000382850:exon3:c.123-2A>T;ENST00000256830:exon3:c.123-2A>T;ENST00000357895:exon3:c.99-2A>T;ENST00000586263:exon3:c.99-2A>T)	.	.	0.999988247793601	0.93
18	55912658	G	A	18	58245426	y	y	splicing	NEDD4L(NM_001144967:exon3:c.123-1G>A;NM_001243960:exon3:c.123-1G>A;NM_015277:exon3:c.123-1G>A;NM_001144968:exon3:c.99-1G>A;NM_001144969:exon3:c.99-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.123-1G>A;ENST00000400345:exon3:c.123-1G>A;ENST00000382850:exon3:c.123-1G>A;ENST00000256830:exon3:c.123-1G>A;ENST00000357895:exon3:c.99-1G>A;ENST00000586263:exon3:c.99-1G>A)	.	.	0.999990361384395	0.938
18	55912658	G	C	18	58245426	y	y	splicing	NEDD4L(NM_001144967:exon3:c.123-1G>C;NM_001243960:exon3:c.123-1G>C;NM_015277:exon3:c.123-1G>C;NM_001144968:exon3:c.99-1G>C;NM_001144969:exon3:c.99-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.123-1G>C;ENST00000400345:exon3:c.123-1G>C;ENST00000382850:exon3:c.123-1G>C;ENST00000256830:exon3:c.123-1G>C;ENST00000357895:exon3:c.99-1G>C;ENST00000586263:exon3:c.99-1G>C)	.	.	0.999990361384395	0.938
18	55912658	G	T	18	58245426	y	y	splicing	NEDD4L(NM_001144967:exon3:c.123-1G>T;NM_001243960:exon3:c.123-1G>T;NM_015277:exon3:c.123-1G>T;NM_001144968:exon3:c.99-1G>T;NM_001144969:exon3:c.99-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.123-1G>T;ENST00000400345:exon3:c.123-1G>T;ENST00000382850:exon3:c.123-1G>T;ENST00000256830:exon3:c.123-1G>T;ENST00000357895:exon3:c.99-1G>T;ENST00000586263:exon3:c.99-1G>T)	.	.	0.999990361384395	0.938
18	55912659	T	A	18	58245427	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.T99A:p.S33R;NEDD4L:NM_015277:exon3:c.T123A:p.S41R;NEDD4L:NM_001144967:exon3:c.T123A:p.S41R;NEDD4L:NM_001144968:exon3:c.T99A:p.S33R;NEDD4L:NM_001243960:exon3:c.T123A:p.S41R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.T123A:p.S41R;ENSG00000049759:ENST00000256830:exon3:c.T123A:p.S41R;ENSG00000049759:ENST00000357895:exon3:c.T99A:p.S33R;ENSG00000049759:ENST00000356462:exon3:c.T123A:p.S41R;ENSG00000049759:ENST00000400345:exon3:c.T123A:p.S41R;ENSG00000049759:ENST00000586263:exon3:c.T99A:p.S33R;	3.60155899143231E-5	0.158
18	55912659	T	C	18	58245427	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon3:c.T99C:p.S33S;NEDD4L:NM_015277:exon3:c.T123C:p.S41S;NEDD4L:NM_001144967:exon3:c.T123C:p.S41S;NEDD4L:NM_001144968:exon3:c.T99C:p.S33S;NEDD4L:NM_001243960:exon3:c.T123C:p.S41S;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.T123C:p.S41S;ENSG00000049759:ENST00000256830:exon3:c.T123C:p.S41S;ENSG00000049759:ENST00000357895:exon3:c.T99C:p.S33S;ENSG00000049759:ENST00000356462:exon3:c.T123C:p.S41S;ENSG00000049759:ENST00000400345:exon3:c.T123C:p.S41S;ENSG00000049759:ENST00000586263:exon3:c.T99C:p.S33S;	5.00612790932731E-5	0.014
18	55912659	T	G	18	58245427	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.T99G:p.S33R;NEDD4L:NM_015277:exon3:c.T123G:p.S41R;NEDD4L:NM_001144967:exon3:c.T123G:p.S41R;NEDD4L:NM_001144968:exon3:c.T99G:p.S33R;NEDD4L:NM_001243960:exon3:c.T123G:p.S41R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.T123G:p.S41R;ENSG00000049759:ENST00000256830:exon3:c.T123G:p.S41R;ENSG00000049759:ENST00000357895:exon3:c.T99G:p.S33R;ENSG00000049759:ENST00000356462:exon3:c.T123G:p.S41R;ENSG00000049759:ENST00000400345:exon3:c.T123G:p.S41R;ENSG00000049759:ENST00000586263:exon3:c.T99G:p.S33R;	9.45760834639132E-5	0.198
18	55912660	G	A	18	58245428	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.G100A:p.D34N;NEDD4L:NM_015277:exon3:c.G124A:p.D42N;NEDD4L:NM_001144967:exon3:c.G124A:p.D42N;NEDD4L:NM_001144968:exon3:c.G100A:p.D34N;NEDD4L:NM_001243960:exon3:c.G124A:p.D42N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.G124A:p.D42N;ENSG00000049759:ENST00000256830:exon3:c.G124A:p.D42N;ENSG00000049759:ENST00000357895:exon3:c.G100A:p.D34N;ENSG00000049759:ENST00000356462:exon3:c.G124A:p.D42N;ENSG00000049759:ENST00000400345:exon3:c.G124A:p.D42N;ENSG00000049759:ENST00000586263:exon3:c.G100A:p.D34N;	0.99075478060751	0.868
18	55912660	G	C	18	58245428	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.G100C:p.D34H;NEDD4L:NM_015277:exon3:c.G124C:p.D42H;NEDD4L:NM_001144967:exon3:c.G124C:p.D42H;NEDD4L:NM_001144968:exon3:c.G100C:p.D34H;NEDD4L:NM_001243960:exon3:c.G124C:p.D42H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.G124C:p.D42H;ENSG00000049759:ENST00000256830:exon3:c.G124C:p.D42H;ENSG00000049759:ENST00000357895:exon3:c.G100C:p.D34H;ENSG00000049759:ENST00000356462:exon3:c.G124C:p.D42H;ENSG00000049759:ENST00000400345:exon3:c.G124C:p.D42H;ENSG00000049759:ENST00000586263:exon3:c.G100C:p.D34H;	0.963008865407924	0.892
18	55912660	G	T	18	58245428	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.G100T:p.D34Y;NEDD4L:NM_015277:exon3:c.G124T:p.D42Y;NEDD4L:NM_001144967:exon3:c.G124T:p.D42Y;NEDD4L:NM_001144968:exon3:c.G100T:p.D34Y;NEDD4L:NM_001243960:exon3:c.G124T:p.D42Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.G124T:p.D42Y;ENSG00000049759:ENST00000256830:exon3:c.G124T:p.D42Y;ENSG00000049759:ENST00000357895:exon3:c.G100T:p.D34Y;ENSG00000049759:ENST00000356462:exon3:c.G124T:p.D42Y;ENSG00000049759:ENST00000400345:exon3:c.G124T:p.D42Y;ENSG00000049759:ENST00000586263:exon3:c.G100T:p.D34Y;	0.982035446610515	0.864
18	55912738	A	C	18	58245506	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.A178C:p.K60Q;NEDD4L:NM_015277:exon3:c.A202C:p.K68Q;NEDD4L:NM_001144967:exon3:c.A202C:p.K68Q;NEDD4L:NM_001144968:exon3:c.A178C:p.K60Q;NEDD4L:NM_001243960:exon3:c.A202C:p.K68Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.A202C:p.K68Q;ENSG00000049759:ENST00000256830:exon3:c.A202C:p.K68Q;ENSG00000049759:ENST00000357895:exon3:c.A178C:p.K60Q;ENSG00000049759:ENST00000356462:exon3:c.A202C:p.K68Q;ENSG00000049759:ENST00000400345:exon3:c.A202C:p.K68Q;ENSG00000049759:ENST00000586263:exon3:c.A178C:p.K60Q;	0.827037196448626	0.692
18	55912738	A	G	18	58245506	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.A178G:p.K60E;NEDD4L:NM_015277:exon3:c.A202G:p.K68E;NEDD4L:NM_001144967:exon3:c.A202G:p.K68E;NEDD4L:NM_001144968:exon3:c.A178G:p.K60E;NEDD4L:NM_001243960:exon3:c.A202G:p.K68E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.A202G:p.K68E;ENSG00000049759:ENST00000256830:exon3:c.A202G:p.K68E;ENSG00000049759:ENST00000357895:exon3:c.A178G:p.K60E;ENSG00000049759:ENST00000356462:exon3:c.A202G:p.K68E;ENSG00000049759:ENST00000400345:exon3:c.A202G:p.K68E;ENSG00000049759:ENST00000586263:exon3:c.A178G:p.K60E;	0.432528771344951	0.516
18	55912738	A	T	18	58245506	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon3:c.A178T:p.K60X;NEDD4L:NM_015277:exon3:c.A202T:p.K68X;NEDD4L:NM_001144967:exon3:c.A202T:p.K68X;NEDD4L:NM_001144968:exon3:c.A178T:p.K60X;NEDD4L:NM_001243960:exon3:c.A202T:p.K68X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000382850:exon3:c.A202T:p.K68X;ENSG00000049759:ENST00000256830:exon3:c.A202T:p.K68X;ENSG00000049759:ENST00000357895:exon3:c.A178T:p.K60X;ENSG00000049759:ENST00000356462:exon3:c.A202T:p.K68X;ENSG00000049759:ENST00000400345:exon3:c.A202T:p.K68X;ENSG00000049759:ENST00000586263:exon3:c.A178T:p.K60X;	0.981047189831126	0.762
18	55912739	A	C	18	58245507	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.A179C:p.K60T;NEDD4L:NM_015277:exon3:c.A203C:p.K68T;NEDD4L:NM_001144967:exon3:c.A203C:p.K68T;NEDD4L:NM_001144968:exon3:c.A179C:p.K60T;NEDD4L:NM_001243960:exon3:c.A203C:p.K68T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.A203C:p.K68T;ENSG00000049759:ENST00000256830:exon3:c.A203C:p.K68T;ENSG00000049759:ENST00000357895:exon3:c.A179C:p.K60T;ENSG00000049759:ENST00000356462:exon3:c.A203C:p.K68T;ENSG00000049759:ENST00000400345:exon3:c.A203C:p.K68T;ENSG00000049759:ENST00000586263:exon3:c.A179C:p.K60T;	0.992342188775621	0.862
18	55912739	A	G	18	58245507	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.A179G:p.K60R;NEDD4L:NM_015277:exon3:c.A203G:p.K68R;NEDD4L:NM_001144967:exon3:c.A203G:p.K68R;NEDD4L:NM_001144968:exon3:c.A179G:p.K60R;NEDD4L:NM_001243960:exon3:c.A203G:p.K68R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.A203G:p.K68R;ENSG00000049759:ENST00000256830:exon3:c.A203G:p.K68R;ENSG00000049759:ENST00000357895:exon3:c.A179G:p.K60R;ENSG00000049759:ENST00000356462:exon3:c.A203G:p.K68R;ENSG00000049759:ENST00000400345:exon3:c.A203G:p.K68R;ENSG00000049759:ENST00000586263:exon3:c.A179G:p.K60R;	0.99799324526848	0.962
18	55912739	A	T	18	58245507	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.A179T:p.K60M;NEDD4L:NM_015277:exon3:c.A203T:p.K68M;NEDD4L:NM_001144967:exon3:c.A203T:p.K68M;NEDD4L:NM_001144968:exon3:c.A179T:p.K60M;NEDD4L:NM_001243960:exon3:c.A203T:p.K68M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.A203T:p.K68M;ENSG00000049759:ENST00000256830:exon3:c.A203T:p.K68M;ENSG00000049759:ENST00000357895:exon3:c.A179T:p.K60M;ENSG00000049759:ENST00000356462:exon3:c.A203T:p.K68M;ENSG00000049759:ENST00000400345:exon3:c.A203T:p.K68M;ENSG00000049759:ENST00000586263:exon3:c.A179T:p.K60M;	0.997342891230316	0.952
18	55912740	G	A	18	58245508	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon3:c.G180A:p.K60K;NEDD4L:NM_015277:exon3:c.G204A:p.K68K;NEDD4L:NM_001144967:exon3:c.G204A:p.K68K;NEDD4L:NM_001144968:exon3:c.G180A:p.K60K;NEDD4L:NM_001243960:exon3:c.G204A:p.K68K;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.G204A:p.K68K;ENSG00000049759:ENST00000256830:exon3:c.G204A:p.K68K;ENSG00000049759:ENST00000357895:exon3:c.G180A:p.K60K;ENSG00000049759:ENST00000356462:exon3:c.G204A:p.K68K;ENSG00000049759:ENST00000400345:exon3:c.G204A:p.K68K;ENSG00000049759:ENST00000586263:exon3:c.G180A:p.K60K;	0.999969832799434	0.992
18	55912740	G	C	18	58245508	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.G180C:p.K60N;NEDD4L:NM_015277:exon3:c.G204C:p.K68N;NEDD4L:NM_001144967:exon3:c.G204C:p.K68N;NEDD4L:NM_001144968:exon3:c.G180C:p.K60N;NEDD4L:NM_001243960:exon3:c.G204C:p.K68N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.G204C:p.K68N;ENSG00000049759:ENST00000256830:exon3:c.G204C:p.K68N;ENSG00000049759:ENST00000357895:exon3:c.G180C:p.K60N;ENSG00000049759:ENST00000356462:exon3:c.G204C:p.K68N;ENSG00000049759:ENST00000400345:exon3:c.G204C:p.K68N;ENSG00000049759:ENST00000586263:exon3:c.G180C:p.K60N;	0.999992345422294	0.99
18	55912740	G	T	18	58245508	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon3:c.G180T:p.K60N;NEDD4L:NM_015277:exon3:c.G204T:p.K68N;NEDD4L:NM_001144967:exon3:c.G204T:p.K68N;NEDD4L:NM_001144968:exon3:c.G180T:p.K60N;NEDD4L:NM_001243960:exon3:c.G204T:p.K68N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon3:c.G204T:p.K68N;ENSG00000049759:ENST00000256830:exon3:c.G204T:p.K68N;ENSG00000049759:ENST00000357895:exon3:c.G180T:p.K60N;ENSG00000049759:ENST00000356462:exon3:c.G204T:p.K68N;ENSG00000049759:ENST00000400345:exon3:c.G204T:p.K68N;ENSG00000049759:ENST00000586263:exon3:c.G180T:p.K60N;	0.999985007705141	0.986
18	55912741	G	A	18	58245509	y	y	splicing	NEDD4L(NM_001144967:exon3:c.204+1G>A;NM_001243960:exon3:c.204+1G>A;NM_015277:exon3:c.204+1G>A;NM_001144968:exon3:c.180+1G>A;NM_001144969:exon3:c.180+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.204+1G>A;ENST00000400345:exon3:c.204+1G>A;ENST00000382850:exon3:c.204+1G>A;ENST00000256830:exon3:c.204+1G>A;ENST00000357895:exon3:c.180+1G>A;ENST00000586263:exon3:c.180+1G>A)	.	.	0.999990361384395	0.938
18	55912741	G	C	18	58245509	y	y	splicing	NEDD4L(NM_001144967:exon3:c.204+1G>C;NM_001243960:exon3:c.204+1G>C;NM_015277:exon3:c.204+1G>C;NM_001144968:exon3:c.180+1G>C;NM_001144969:exon3:c.180+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.204+1G>C;ENST00000400345:exon3:c.204+1G>C;ENST00000382850:exon3:c.204+1G>C;ENST00000256830:exon3:c.204+1G>C;ENST00000357895:exon3:c.180+1G>C;ENST00000586263:exon3:c.180+1G>C)	.	.	0.999990361384395	0.938
18	55912741	G	T	18	58245509	y	y	splicing	NEDD4L(NM_001144967:exon3:c.204+1G>T;NM_001243960:exon3:c.204+1G>T;NM_015277:exon3:c.204+1G>T;NM_001144968:exon3:c.180+1G>T;NM_001144969:exon3:c.180+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.204+1G>T;ENST00000400345:exon3:c.204+1G>T;ENST00000382850:exon3:c.204+1G>T;ENST00000256830:exon3:c.204+1G>T;ENST00000357895:exon3:c.180+1G>T;ENST00000586263:exon3:c.180+1G>T)	.	.	0.999990361384395	0.938
18	55912742	T	A	18	58245510	y	y	splicing	NEDD4L(NM_001144967:exon3:c.204+2T>A;NM_001243960:exon3:c.204+2T>A;NM_015277:exon3:c.204+2T>A;NM_001144968:exon3:c.180+2T>A;NM_001144969:exon3:c.180+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.204+2T>A;ENST00000400345:exon3:c.204+2T>A;ENST00000382850:exon3:c.204+2T>A;ENST00000256830:exon3:c.204+2T>A;ENST00000357895:exon3:c.180+2T>A;ENST00000586263:exon3:c.180+2T>A)	.	.	0.999988247793601	0.93
18	55912742	T	C	18	58245510	y	y	splicing	NEDD4L(NM_001144967:exon3:c.204+2T>C;NM_001243960:exon3:c.204+2T>C;NM_015277:exon3:c.204+2T>C;NM_001144968:exon3:c.180+2T>C;NM_001144969:exon3:c.180+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.204+2T>C;ENST00000400345:exon3:c.204+2T>C;ENST00000382850:exon3:c.204+2T>C;ENST00000256830:exon3:c.204+2T>C;ENST00000357895:exon3:c.180+2T>C;ENST00000586263:exon3:c.180+2T>C)	.	.	0.994877988051647	0.724
18	55912742	T	G	18	58245510	y	y	splicing	NEDD4L(NM_001144967:exon3:c.204+2T>G;NM_001243960:exon3:c.204+2T>G;NM_015277:exon3:c.204+2T>G;NM_001144968:exon3:c.180+2T>G;NM_001144969:exon3:c.180+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon3:c.204+2T>G;ENST00000400345:exon3:c.204+2T>G;ENST00000382850:exon3:c.204+2T>G;ENST00000256830:exon3:c.204+2T>G;ENST00000357895:exon3:c.180+2T>G;ENST00000586263:exon3:c.180+2T>G)	.	.	0.999988247793601	0.93
18	55912743	A	C	18	58245511	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.927200899843475	0.612
18	55912743	A	G	18	58245511	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0426418855327141	0.166
18	55912743	A	T	18	58245511	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.786631792068591	0.48
18	55912744	G	A	18	58245512	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.24515440474403E-4	0.062
18	55912744	G	C	18	58245512	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.51221798680176E-5	0.028
18	55912744	G	T	18	58245512	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.6504864615007E-4	0.036
18	55912745	G	A	18	58245513	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999747273170034	0.612
18	55912745	G	C	18	58245513	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999920037867459	0.736
18	55912745	G	T	18	58245513	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99965524349499	0.68
18	55912746	T	A	18	58245514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.995637348260482	0.71
18	55912746	T	C	18	58245514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.991270086337733	0.596
18	55912746	T	G	18	58245514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.995981568248103	0.72
18	55912747	G	A	18	58245515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.80397144467902E-4	0.006
18	55912747	G	C	18	58245515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.68206610425624E-4	0.012
18	55912747	G	T	18	58245515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.60124904927982E-4	0.022
18	55912748	T	A	18	58245516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.88951250399587E-5	0.0
18	55912748	T	C	18	58245516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.45016355604485E-5	0.0
18	55912748	T	G	18	58245516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.0030960233099E-4	0.0
18	55916119	T	A	18	58248887	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.488800445143834	0.532
18	55916119	T	C	18	58248887	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00602301071663078	0.188
18	55916119	T	G	18	58248887	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999926426692086	0.976
18	55916120	T	A	18	58248888	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.748896016606253	0.426
18	55916120	T	C	18	58248888	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.90721439793113E-4	0.088
18	55916120	T	G	18	58248888	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.331279480015171	0.396
18	55916121	T	A	18	58248889	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.974818192454798	0.734
18	55916121	T	C	18	58248889	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.010583986574051	0.148
18	55916121	T	G	18	58248889	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.714131740585279	0.524
18	55916122	C	A	18	58248890	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.055203585698764	0.3
18	55916122	C	G	18	58248890	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0199748951758402	0.294
18	55916122	C	T	18	58248890	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.61699579016334E-4	0.068
18	55916123	T	A	18	58248891	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.346846896054652	0.382
18	55916123	T	C	18	58248891	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.68816366600331E-4	0.032
18	55916123	T	G	18	58248891	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0452280988152604	0.352
18	55916124	C	A	18	58248892	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00213606498853638	0.084
18	55916124	C	G	18	58248892	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00187042151709244	0.048
18	55916124	C	T	18	58248892	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.56263645243741E-5	0.022
18	55916125	T	A	18	58248893	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.992299223681261	0.74
18	55916125	T	C	18	58248893	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00481779996055413	0.066
18	55916125	T	G	18	58248893	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.986498223542112	0.706
18	55916126	T	A	18	58248894	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.989079929641008	0.742
18	55916126	T	C	18	58248894	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.294192616232453	0.268
18	55916126	T	G	18	58248894	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.992678881911542	0.688
18	55916127	C	A	18	58248895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.463286973658E-4	0.08
18	55916127	C	G	18	58248895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.81394826437397E-4	0.06
18	55916127	C	T	18	58248895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.79811778829861E-4	0.074
18	55916128	C	A	18	58248896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99956024494656	0.88
18	55916128	C	G	18	58248896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999393253830463	0.934
18	55916128	C	T	18	58248896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0839893675055737	0.212
18	55916129	A	C	18	58248897	y	y	splicing	NEDD4L(NM_001144967:exon4:c.205-2A>C;NM_001243960:exon4:c.205-2A>C;NM_015277:exon4:c.205-2A>C;NM_001144968:exon4:c.181-2A>C;NM_001144969:exon4:c.181-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.205-2A>C;ENST00000400345:exon4:c.205-2A>C;ENST00000382850:exon4:c.205-2A>C;ENST00000256830:exon4:c.205-2A>C;ENST00000357895:exon4:c.181-2A>C;ENST00000586263:exon4:c.181-2A>C)	.	.	0.999992446697775	0.942
18	55916129	A	G	18	58248897	y	y	splicing	NEDD4L(NM_001144967:exon4:c.205-2A>G;NM_001243960:exon4:c.205-2A>G;NM_015277:exon4:c.205-2A>G;NM_001144968:exon4:c.181-2A>G;NM_001144969:exon4:c.181-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.205-2A>G;ENST00000400345:exon4:c.205-2A>G;ENST00000382850:exon4:c.205-2A>G;ENST00000256830:exon4:c.205-2A>G;ENST00000357895:exon4:c.181-2A>G;ENST00000586263:exon4:c.181-2A>G)	.	.	0.999992446697775	0.942
18	55916129	A	T	18	58248897	y	y	splicing	NEDD4L(NM_001144967:exon4:c.205-2A>T;NM_001243960:exon4:c.205-2A>T;NM_015277:exon4:c.205-2A>T;NM_001144968:exon4:c.181-2A>T;NM_001144969:exon4:c.181-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.205-2A>T;ENST00000400345:exon4:c.205-2A>T;ENST00000382850:exon4:c.205-2A>T;ENST00000256830:exon4:c.205-2A>T;ENST00000357895:exon4:c.181-2A>T;ENST00000586263:exon4:c.181-2A>T)	.	.	0.999992446697775	0.942
18	55916130	G	A	18	58248898	y	y	splicing	NEDD4L(NM_001144967:exon4:c.205-1G>A;NM_001243960:exon4:c.205-1G>A;NM_015277:exon4:c.205-1G>A;NM_001144968:exon4:c.181-1G>A;NM_001144969:exon4:c.181-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.205-1G>A;ENST00000400345:exon4:c.205-1G>A;ENST00000382850:exon4:c.205-1G>A;ENST00000256830:exon4:c.205-1G>A;ENST00000357895:exon4:c.181-1G>A;ENST00000586263:exon4:c.181-1G>A)	.	.	0.999990361384395	0.928
18	55916130	G	C	18	58248898	y	y	splicing	NEDD4L(NM_001144967:exon4:c.205-1G>C;NM_001243960:exon4:c.205-1G>C;NM_015277:exon4:c.205-1G>C;NM_001144968:exon4:c.181-1G>C;NM_001144969:exon4:c.181-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.205-1G>C;ENST00000400345:exon4:c.205-1G>C;ENST00000382850:exon4:c.205-1G>C;ENST00000256830:exon4:c.205-1G>C;ENST00000357895:exon4:c.181-1G>C;ENST00000586263:exon4:c.181-1G>C)	.	.	0.999990361384395	0.928
18	55916130	G	T	18	58248898	y	y	splicing	NEDD4L(NM_001144967:exon4:c.205-1G>T;NM_001243960:exon4:c.205-1G>T;NM_015277:exon4:c.205-1G>T;NM_001144968:exon4:c.181-1G>T;NM_001144969:exon4:c.181-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.205-1G>T;ENST00000400345:exon4:c.205-1G>T;ENST00000382850:exon4:c.205-1G>T;ENST00000256830:exon4:c.205-1G>T;ENST00000357895:exon4:c.181-1G>T;ENST00000586263:exon4:c.181-1G>T)	.	.	0.999990361384395	0.928
18	55916131	A	C	18	58248899	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.A181C:p.T61P;NEDD4L:NM_015277:exon4:c.A205C:p.T69P;NEDD4L:NM_001144967:exon4:c.A205C:p.T69P;NEDD4L:NM_001144968:exon4:c.A181C:p.T61P;NEDD4L:NM_001243960:exon4:c.A205C:p.T69P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.A205C:p.T69P;ENSG00000049759:ENST00000256830:exon4:c.A205C:p.T69P;ENSG00000049759:ENST00000357895:exon4:c.A181C:p.T61P;ENSG00000049759:ENST00000356462:exon4:c.A205C:p.T69P;ENSG00000049759:ENST00000400345:exon4:c.A205C:p.T69P;ENSG00000049759:ENST00000586263:exon4:c.A181C:p.T61P;	0.798339530851876	0.502
18	55916131	A	G	18	58248899	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.A181G:p.T61A;NEDD4L:NM_015277:exon4:c.A205G:p.T69A;NEDD4L:NM_001144967:exon4:c.A205G:p.T69A;NEDD4L:NM_001144968:exon4:c.A181G:p.T61A;NEDD4L:NM_001243960:exon4:c.A205G:p.T69A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.A205G:p.T69A;ENSG00000049759:ENST00000256830:exon4:c.A205G:p.T69A;ENSG00000049759:ENST00000357895:exon4:c.A181G:p.T61A;ENSG00000049759:ENST00000356462:exon4:c.A205G:p.T69A;ENSG00000049759:ENST00000400345:exon4:c.A205G:p.T69A;ENSG00000049759:ENST00000586263:exon4:c.A181G:p.T61A;	0.667181568835026	0.526
18	55916131	A	T	18	58248899	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.A181T:p.T61S;NEDD4L:NM_015277:exon4:c.A205T:p.T69S;NEDD4L:NM_001144967:exon4:c.A205T:p.T69S;NEDD4L:NM_001144968:exon4:c.A181T:p.T61S;NEDD4L:NM_001243960:exon4:c.A205T:p.T69S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.A205T:p.T69S;ENSG00000049759:ENST00000256830:exon4:c.A205T:p.T69S;ENSG00000049759:ENST00000357895:exon4:c.A181T:p.T61S;ENSG00000049759:ENST00000356462:exon4:c.A205T:p.T69S;ENSG00000049759:ENST00000400345:exon4:c.A205T:p.T69S;ENSG00000049759:ENST00000586263:exon4:c.A181T:p.T61S;	0.678056214601024	0.466
18	55916132	C	A	18	58248900	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.C182A:p.T61K;NEDD4L:NM_015277:exon4:c.C206A:p.T69K;NEDD4L:NM_001144967:exon4:c.C206A:p.T69K;NEDD4L:NM_001144968:exon4:c.C182A:p.T61K;NEDD4L:NM_001243960:exon4:c.C206A:p.T69K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.C206A:p.T69K;ENSG00000049759:ENST00000256830:exon4:c.C206A:p.T69K;ENSG00000049759:ENST00000357895:exon4:c.C182A:p.T61K;ENSG00000049759:ENST00000356462:exon4:c.C206A:p.T69K;ENSG00000049759:ENST00000400345:exon4:c.C206A:p.T69K;ENSG00000049759:ENST00000586263:exon4:c.C182A:p.T61K;	0.438688807806516	0.4
18	55916132	C	G	18	58248900	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.C182G:p.T61R;NEDD4L:NM_015277:exon4:c.C206G:p.T69R;NEDD4L:NM_001144967:exon4:c.C206G:p.T69R;NEDD4L:NM_001144968:exon4:c.C182G:p.T61R;NEDD4L:NM_001243960:exon4:c.C206G:p.T69R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.C206G:p.T69R;ENSG00000049759:ENST00000256830:exon4:c.C206G:p.T69R;ENSG00000049759:ENST00000357895:exon4:c.C182G:p.T61R;ENSG00000049759:ENST00000356462:exon4:c.C206G:p.T69R;ENSG00000049759:ENST00000400345:exon4:c.C206G:p.T69R;ENSG00000049759:ENST00000586263:exon4:c.C182G:p.T61R;	0.472483372195626	0.534
18	55916132	C	T	18	58248900	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.C182T:p.T61I;NEDD4L:NM_015277:exon4:c.C206T:p.T69I;NEDD4L:NM_001144967:exon4:c.C206T:p.T69I;NEDD4L:NM_001144968:exon4:c.C182T:p.T61I;NEDD4L:NM_001243960:exon4:c.C206T:p.T69I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.C206T:p.T69I;ENSG00000049759:ENST00000256830:exon4:c.C206T:p.T69I;ENSG00000049759:ENST00000357895:exon4:c.C182T:p.T61I;ENSG00000049759:ENST00000356462:exon4:c.C206T:p.T69I;ENSG00000049759:ENST00000400345:exon4:c.C206T:p.T69I;ENSG00000049759:ENST00000586263:exon4:c.C182T:p.T61I;	0.320072179131536	0.534
18	55916167	A	C	18	58248935	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon4:c.A217C:p.R73R;NEDD4L:NM_015277:exon4:c.A241C:p.R81R;NEDD4L:NM_001144967:exon4:c.A241C:p.R81R;NEDD4L:NM_001144968:exon4:c.A217C:p.R73R;NEDD4L:NM_001243960:exon4:c.A241C:p.R81R;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.A241C:p.R81R;ENSG00000049759:ENST00000256830:exon4:c.A241C:p.R81R;ENSG00000049759:ENST00000357895:exon4:c.A217C:p.R73R;ENSG00000049759:ENST00000356462:exon4:c.A241C:p.R81R;ENSG00000049759:ENST00000400345:exon4:c.A241C:p.R81R;ENSG00000049759:ENST00000586263:exon4:c.A217C:p.R73R;	0.00843621807763718	0.022
18	55916167	A	G	18	58248935	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.A217G:p.R73G;NEDD4L:NM_015277:exon4:c.A241G:p.R81G;NEDD4L:NM_001144967:exon4:c.A241G:p.R81G;NEDD4L:NM_001144968:exon4:c.A217G:p.R73G;NEDD4L:NM_001243960:exon4:c.A241G:p.R81G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.A241G:p.R81G;ENSG00000049759:ENST00000256830:exon4:c.A241G:p.R81G;ENSG00000049759:ENST00000357895:exon4:c.A217G:p.R73G;ENSG00000049759:ENST00000356462:exon4:c.A241G:p.R81G;ENSG00000049759:ENST00000400345:exon4:c.A241G:p.R81G;ENSG00000049759:ENST00000586263:exon4:c.A217G:p.R73G;	0.281172708277085	0.356
18	55916167	A	T	18	58248935	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.A217T:p.R73W;NEDD4L:NM_015277:exon4:c.A241T:p.R81W;NEDD4L:NM_001144967:exon4:c.A241T:p.R81W;NEDD4L:NM_001144968:exon4:c.A217T:p.R73W;NEDD4L:NM_001243960:exon4:c.A241T:p.R81W;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.A241T:p.R81W;ENSG00000049759:ENST00000256830:exon4:c.A241T:p.R81W;ENSG00000049759:ENST00000357895:exon4:c.A217T:p.R73W;ENSG00000049759:ENST00000356462:exon4:c.A241T:p.R81W;ENSG00000049759:ENST00000400345:exon4:c.A241T:p.R81W;ENSG00000049759:ENST00000586263:exon4:c.A217T:p.R73W;	0.898008947611259	0.392
18	55916168	G	A	18	58248936	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.G218A:p.R73K;NEDD4L:NM_015277:exon4:c.G242A:p.R81K;NEDD4L:NM_001144967:exon4:c.G242A:p.R81K;NEDD4L:NM_001144968:exon4:c.G218A:p.R73K;NEDD4L:NM_001243960:exon4:c.G242A:p.R81K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.G242A:p.R81K;ENSG00000049759:ENST00000256830:exon4:c.G242A:p.R81K;ENSG00000049759:ENST00000357895:exon4:c.G218A:p.R73K;ENSG00000049759:ENST00000356462:exon4:c.G242A:p.R81K;ENSG00000049759:ENST00000400345:exon4:c.G242A:p.R81K;ENSG00000049759:ENST00000586263:exon4:c.G218A:p.R73K;	0.897336408737985	0.404
18	55916168	G	C	18	58248936	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.G218C:p.R73T;NEDD4L:NM_015277:exon4:c.G242C:p.R81T;NEDD4L:NM_001144967:exon4:c.G242C:p.R81T;NEDD4L:NM_001144968:exon4:c.G218C:p.R73T;NEDD4L:NM_001243960:exon4:c.G242C:p.R81T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.G242C:p.R81T;ENSG00000049759:ENST00000256830:exon4:c.G242C:p.R81T;ENSG00000049759:ENST00000357895:exon4:c.G218C:p.R73T;ENSG00000049759:ENST00000356462:exon4:c.G242C:p.R81T;ENSG00000049759:ENST00000400345:exon4:c.G242C:p.R81T;ENSG00000049759:ENST00000586263:exon4:c.G218C:p.R73T;	0.976052463864029	0.73
18	55916168	G	T	18	58248936	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.G218T:p.R73M;NEDD4L:NM_015277:exon4:c.G242T:p.R81M;NEDD4L:NM_001144967:exon4:c.G242T:p.R81M;NEDD4L:NM_001144968:exon4:c.G218T:p.R73M;NEDD4L:NM_001243960:exon4:c.G242T:p.R81M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.G242T:p.R81M;ENSG00000049759:ENST00000256830:exon4:c.G242T:p.R81M;ENSG00000049759:ENST00000357895:exon4:c.G218T:p.R73M;ENSG00000049759:ENST00000356462:exon4:c.G242T:p.R81M;ENSG00000049759:ENST00000400345:exon4:c.G242T:p.R81M;ENSG00000049759:ENST00000586263:exon4:c.G218T:p.R73M;	0.98065644778965	0.57
18	55916169	G	A	18	58248937	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon4:c.G219A:p.R73R;NEDD4L:NM_015277:exon4:c.G243A:p.R81R;NEDD4L:NM_001144967:exon4:c.G243A:p.R81R;NEDD4L:NM_001144968:exon4:c.G219A:p.R73R;NEDD4L:NM_001243960:exon4:c.G243A:p.R81R;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.G243A:p.R81R;ENSG00000049759:ENST00000256830:exon4:c.G243A:p.R81R;ENSG00000049759:ENST00000357895:exon4:c.G219A:p.R73R;ENSG00000049759:ENST00000356462:exon4:c.G243A:p.R81R;ENSG00000049759:ENST00000400345:exon4:c.G243A:p.R81R;ENSG00000049759:ENST00000586263:exon4:c.G219A:p.R73R;	0.249473472447769	0.502
18	55916169	G	C	18	58248937	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.G219C:p.R73S;NEDD4L:NM_015277:exon4:c.G243C:p.R81S;NEDD4L:NM_001144967:exon4:c.G243C:p.R81S;NEDD4L:NM_001144968:exon4:c.G219C:p.R73S;NEDD4L:NM_001243960:exon4:c.G243C:p.R81S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.G243C:p.R81S;ENSG00000049759:ENST00000256830:exon4:c.G243C:p.R81S;ENSG00000049759:ENST00000357895:exon4:c.G219C:p.R73S;ENSG00000049759:ENST00000356462:exon4:c.G243C:p.R81S;ENSG00000049759:ENST00000400345:exon4:c.G243C:p.R81S;ENSG00000049759:ENST00000586263:exon4:c.G219C:p.R73S;	0.76954000212246	0.614
18	55916169	G	T	18	58248937	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon4:c.G219T:p.R73S;NEDD4L:NM_015277:exon4:c.G243T:p.R81S;NEDD4L:NM_001144967:exon4:c.G243T:p.R81S;NEDD4L:NM_001144968:exon4:c.G219T:p.R73S;NEDD4L:NM_001243960:exon4:c.G243T:p.R81S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon4:c.G243T:p.R81S;ENSG00000049759:ENST00000256830:exon4:c.G243T:p.R81S;ENSG00000049759:ENST00000357895:exon4:c.G219T:p.R73S;ENSG00000049759:ENST00000356462:exon4:c.G243T:p.R81S;ENSG00000049759:ENST00000400345:exon4:c.G243T:p.R81S;ENSG00000049759:ENST00000586263:exon4:c.G219T:p.R73S;	0.945764466147812	0.588
18	55916170	G	A	18	58248938	y	y	splicing	NEDD4L(NM_001144967:exon4:c.243+1G>A;NM_001243960:exon4:c.243+1G>A;NM_015277:exon4:c.243+1G>A;NM_001144968:exon4:c.219+1G>A;NM_001144969:exon4:c.219+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.243+1G>A;ENST00000400345:exon4:c.243+1G>A;ENST00000382850:exon4:c.243+1G>A;ENST00000256830:exon4:c.243+1G>A;ENST00000357895:exon4:c.219+1G>A;ENST00000586263:exon4:c.219+1G>A)	.	.	0.999988247793601	0.92
18	55916170	G	C	18	58248938	y	y	splicing	NEDD4L(NM_001144967:exon4:c.243+1G>C;NM_001243960:exon4:c.243+1G>C;NM_015277:exon4:c.243+1G>C;NM_001144968:exon4:c.219+1G>C;NM_001144969:exon4:c.219+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.243+1G>C;ENST00000400345:exon4:c.243+1G>C;ENST00000382850:exon4:c.243+1G>C;ENST00000256830:exon4:c.243+1G>C;ENST00000357895:exon4:c.219+1G>C;ENST00000586263:exon4:c.219+1G>C)	.	.	0.999978952611685	0.922
18	55916170	G	T	18	58248938	y	y	splicing	NEDD4L(NM_001144967:exon4:c.243+1G>T;NM_001243960:exon4:c.243+1G>T;NM_015277:exon4:c.243+1G>T;NM_001144968:exon4:c.219+1G>T;NM_001144969:exon4:c.219+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.243+1G>T;ENST00000400345:exon4:c.243+1G>T;ENST00000382850:exon4:c.243+1G>T;ENST00000256830:exon4:c.243+1G>T;ENST00000357895:exon4:c.219+1G>T;ENST00000586263:exon4:c.219+1G>T)	.	.	0.999988247793601	0.92
18	55916171	T	A	18	58248939	y	y	splicing	NEDD4L(NM_001144967:exon4:c.243+2T>A;NM_001243960:exon4:c.243+2T>A;NM_015277:exon4:c.243+2T>A;NM_001144968:exon4:c.219+2T>A;NM_001144969:exon4:c.219+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.243+2T>A;ENST00000400345:exon4:c.243+2T>A;ENST00000382850:exon4:c.243+2T>A;ENST00000256830:exon4:c.243+2T>A;ENST00000357895:exon4:c.219+2T>A;ENST00000586263:exon4:c.219+2T>A)	.	.	0.999992446697775	0.926
18	55916171	T	C	18	58248939	y	y	splicing	NEDD4L(NM_001144967:exon4:c.243+2T>C;NM_001243960:exon4:c.243+2T>C;NM_015277:exon4:c.243+2T>C;NM_001144968:exon4:c.219+2T>C;NM_001144969:exon4:c.219+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.243+2T>C;ENST00000400345:exon4:c.243+2T>C;ENST00000382850:exon4:c.243+2T>C;ENST00000256830:exon4:c.243+2T>C;ENST00000357895:exon4:c.219+2T>C;ENST00000586263:exon4:c.219+2T>C)	.	.	0.995822926703299	0.628
18	55916171	T	G	18	58248939	y	y	splicing	NEDD4L(NM_001144967:exon4:c.243+2T>G;NM_001243960:exon4:c.243+2T>G;NM_015277:exon4:c.243+2T>G;NM_001144968:exon4:c.219+2T>G;NM_001144969:exon4:c.219+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon4:c.243+2T>G;ENST00000400345:exon4:c.243+2T>G;ENST00000382850:exon4:c.243+2T>G;ENST00000256830:exon4:c.243+2T>G;ENST00000357895:exon4:c.219+2T>G;ENST00000586263:exon4:c.219+2T>G)	.	.	0.999986472513537	0.928
18	55916172	A	C	18	58248940	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996004733501194	0.728
18	55916172	A	G	18	58248940	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0142357671621768	0.118
18	55916172	A	T	18	58248940	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.98632084743352	0.652
18	55916173	A	C	18	58248941	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.866691150079278	0.56
18	55916173	A	G	18	58248941	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.872619378925108	0.588
18	55916173	A	T	18	58248941	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.88467887983077	0.582
18	55916174	G	A	18	58248942	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997006511879774	0.848
18	55916174	G	C	18	58248942	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996799943990783	0.86
18	55916174	G	T	18	58248942	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.995254328152812	0.796
18	55916175	T	A	18	58248943	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.317940337688195	0.382
18	55916175	T	C	18	58248943	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.479707436167391	0.35
18	55916175	T	G	18	58248943	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.111778149400264	0.274
18	55916176	T	A	18	58248944	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.57955096384892E-5	0.002
18	55916176	T	C	18	58248944	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.01174165683835E-5	0.0
18	55916176	T	G	18	58248944	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.10346612926138E-5	0.006
18	55916177	T	A	18	58248945	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00193368460629301	0.018
18	55916177	T	C	18	58248945	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00193368460629301	0.02
18	55916177	T	G	18	58248945	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00195217086226593	0.036
18	55919221	T	A	18	58251989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999136675960238	0.936
18	55919221	T	C	18	58251989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.73834862772607E-4	0.004
18	55919221	T	G	18	58251989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996651740959576	0.91
18	55919222	G	A	18	58251990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.09391413806392E-4	0.068
18	55919222	G	C	18	58251990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.27599779239034E-4	0.002
18	55919222	G	T	18	58251990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.2696841993397E-4	0.008
18	55919223	T	A	18	58251991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0670829706281462	0.47
18	55919223	T	C	18	58251991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.75780264344266E-4	0.014
18	55919223	T	G	18	58251991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0107084528143597	0.368
18	55919224	T	A	18	58251992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00129510994224879	0.046
18	55919224	T	C	18	58251992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.88342207867018E-5	0.002
18	55919224	T	G	18	58251992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.994095961722E-4	0.062
18	55919225	C	A	18	58251993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.36059685110979E-4	0.098
18	55919225	C	G	18	58251993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.92326795652084E-4	0.138
18	55919225	C	T	18	58251993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.68645382690725E-5	0.014
18	55919226	C	A	18	58251994	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.17550678645757E-4	0.02
18	55919226	C	G	18	58251994	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.06700652050526E-4	0.014
18	55919226	C	T	18	58251994	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.64385317602487E-5	0.0
18	55919227	T	A	18	58251995	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0907281948126963	0.294
18	55919227	T	C	18	58251995	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.8659193281218E-4	0.01
18	55919227	T	G	18	58251995	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.434685822625139	0.412
18	55919228	T	A	18	58251996	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0369623184117052	0.252
18	55919228	T	C	18	58251996	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.37864688609126E-5	0.0
18	55919228	T	G	18	58251996	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0292931068998738	0.272
18	55919229	A	C	18	58251997	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.51330084327816E-5	0.002
18	55919229	A	G	18	58251997	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.92510125505623E-5	0.002
18	55919229	A	T	18	58251997	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.72877110469086E-5	0.004
18	55919230	T	A	18	58251998	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00422153916637953	0.12
18	55919230	T	C	18	58251998	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.72287586363806E-4	0.032
18	55919230	T	G	18	58251998	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.995828901593897	0.658
18	55919231	A	C	18	58251999	y	y	splicing	NEDD4L(NM_001144967:exon5:c.244-2A>C;NM_001243960:exon5:c.244-2A>C;NM_015277:exon5:c.244-2A>C;NM_001144968:exon5:c.220-2A>C;NM_001144969:exon5:c.220-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.244-2A>C;ENST00000400345:exon5:c.244-2A>C;ENST00000382850:exon5:c.244-2A>C;ENST00000256830:exon5:c.244-2A>C;ENST00000357895:exon5:c.220-2A>C;ENST00000586263:exon5:c.220-2A>C)	.	.	0.999988247793601	0.93
18	55919231	A	G	18	58251999	y	y	splicing	NEDD4L(NM_001144967:exon5:c.244-2A>G;NM_001243960:exon5:c.244-2A>G;NM_015277:exon5:c.244-2A>G;NM_001144968:exon5:c.220-2A>G;NM_001144969:exon5:c.220-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.244-2A>G;ENST00000400345:exon5:c.244-2A>G;ENST00000382850:exon5:c.244-2A>G;ENST00000256830:exon5:c.244-2A>G;ENST00000357895:exon5:c.220-2A>G;ENST00000586263:exon5:c.220-2A>G)	.	.	0.999988247793601	0.93
18	55919231	A	T	18	58251999	y	y	splicing	NEDD4L(NM_001144967:exon5:c.244-2A>T;NM_001243960:exon5:c.244-2A>T;NM_015277:exon5:c.244-2A>T;NM_001144968:exon5:c.220-2A>T;NM_001144969:exon5:c.220-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.244-2A>T;ENST00000400345:exon5:c.244-2A>T;ENST00000382850:exon5:c.244-2A>T;ENST00000256830:exon5:c.244-2A>T;ENST00000357895:exon5:c.220-2A>T;ENST00000586263:exon5:c.220-2A>T)	.	.	0.999988247793601	0.93
18	55919232	G	A	18	58252000	y	y	splicing	NEDD4L(NM_001144967:exon5:c.244-1G>A;NM_001243960:exon5:c.244-1G>A;NM_015277:exon5:c.244-1G>A;NM_001144968:exon5:c.220-1G>A;NM_001144969:exon5:c.220-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.244-1G>A;ENST00000400345:exon5:c.244-1G>A;ENST00000382850:exon5:c.244-1G>A;ENST00000256830:exon5:c.244-1G>A;ENST00000357895:exon5:c.220-1G>A;ENST00000586263:exon5:c.220-1G>A)	.	.	0.999989072007339	0.928
18	55919232	G	C	18	58252000	y	y	splicing	NEDD4L(NM_001144967:exon5:c.244-1G>C;NM_001243960:exon5:c.244-1G>C;NM_015277:exon5:c.244-1G>C;NM_001144968:exon5:c.220-1G>C;NM_001144969:exon5:c.220-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.244-1G>C;ENST00000400345:exon5:c.244-1G>C;ENST00000382850:exon5:c.244-1G>C;ENST00000256830:exon5:c.244-1G>C;ENST00000357895:exon5:c.220-1G>C;ENST00000586263:exon5:c.220-1G>C)	.	.	0.999989072007339	0.928
18	55919232	G	T	18	58252000	y	y	splicing	NEDD4L(NM_001144967:exon5:c.244-1G>T;NM_001243960:exon5:c.244-1G>T;NM_015277:exon5:c.244-1G>T;NM_001144968:exon5:c.220-1G>T;NM_001144969:exon5:c.220-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.244-1G>T;ENST00000400345:exon5:c.244-1G>T;ENST00000382850:exon5:c.244-1G>T;ENST00000256830:exon5:c.244-1G>T;ENST00000357895:exon5:c.220-1G>T;ENST00000586263:exon5:c.220-1G>T)	.	.	0.999989072007339	0.928
18	55919233	G	A	18	58252001	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.G220A:p.V74I;NEDD4L:NM_015277:exon5:c.G244A:p.V82I;NEDD4L:NM_001144967:exon5:c.G244A:p.V82I;NEDD4L:NM_001144968:exon5:c.G220A:p.V74I;NEDD4L:NM_001243960:exon5:c.G244A:p.V82I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.G244A:p.V82I;ENSG00000049759:ENST00000256830:exon5:c.G244A:p.V82I;ENSG00000049759:ENST00000357895:exon5:c.G220A:p.V74I;ENSG00000049759:ENST00000356462:exon5:c.G244A:p.V82I;ENSG00000049759:ENST00000400345:exon5:c.G244A:p.V82I;ENSG00000049759:ENST00000586263:exon5:c.G220A:p.V74I;	0.997838559568559	0.906
18	55919233	G	C	18	58252001	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.G220C:p.V74L;NEDD4L:NM_015277:exon5:c.G244C:p.V82L;NEDD4L:NM_001144967:exon5:c.G244C:p.V82L;NEDD4L:NM_001144968:exon5:c.G220C:p.V74L;NEDD4L:NM_001243960:exon5:c.G244C:p.V82L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.G244C:p.V82L;ENSG00000049759:ENST00000256830:exon5:c.G244C:p.V82L;ENSG00000049759:ENST00000357895:exon5:c.G220C:p.V74L;ENSG00000049759:ENST00000356462:exon5:c.G244C:p.V82L;ENSG00000049759:ENST00000400345:exon5:c.G244C:p.V82L;ENSG00000049759:ENST00000586263:exon5:c.G220C:p.V74L;	0.999530193656929	0.922
18	55919233	G	T	18	58252001	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.G220T:p.V74L;NEDD4L:NM_015277:exon5:c.G244T:p.V82L;NEDD4L:NM_001144967:exon5:c.G244T:p.V82L;NEDD4L:NM_001144968:exon5:c.G220T:p.V74L;NEDD4L:NM_001243960:exon5:c.G244T:p.V82L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.G244T:p.V82L;ENSG00000049759:ENST00000256830:exon5:c.G244T:p.V82L;ENSG00000049759:ENST00000357895:exon5:c.G220T:p.V74L;ENSG00000049759:ENST00000356462:exon5:c.G244T:p.V82L;ENSG00000049759:ENST00000400345:exon5:c.G244T:p.V82L;ENSG00000049759:ENST00000586263:exon5:c.G220T:p.V74L;	0.999727635894371	0.954
18	55919234	T	A	18	58252002	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.T221A:p.V74E;NEDD4L:NM_015277:exon5:c.T245A:p.V82E;NEDD4L:NM_001144967:exon5:c.T245A:p.V82E;NEDD4L:NM_001144968:exon5:c.T221A:p.V74E;NEDD4L:NM_001243960:exon5:c.T245A:p.V82E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.T245A:p.V82E;ENSG00000049759:ENST00000256830:exon5:c.T245A:p.V82E;ENSG00000049759:ENST00000357895:exon5:c.T221A:p.V74E;ENSG00000049759:ENST00000356462:exon5:c.T245A:p.V82E;ENSG00000049759:ENST00000400345:exon5:c.T245A:p.V82E;ENSG00000049759:ENST00000586263:exon5:c.T221A:p.V74E;	0.264435129708201	0.49
18	55919234	T	C	18	58252002	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.T221C:p.V74A;NEDD4L:NM_015277:exon5:c.T245C:p.V82A;NEDD4L:NM_001144967:exon5:c.T245C:p.V82A;NEDD4L:NM_001144968:exon5:c.T221C:p.V74A;NEDD4L:NM_001243960:exon5:c.T245C:p.V82A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.T245C:p.V82A;ENSG00000049759:ENST00000256830:exon5:c.T245C:p.V82A;ENSG00000049759:ENST00000357895:exon5:c.T221C:p.V74A;ENSG00000049759:ENST00000356462:exon5:c.T245C:p.V82A;ENSG00000049759:ENST00000400345:exon5:c.T245C:p.V82A;ENSG00000049759:ENST00000586263:exon5:c.T221C:p.V74A;	0.265771789480597	0.504
18	55919234	T	G	18	58252002	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.T221G:p.V74G;NEDD4L:NM_015277:exon5:c.T245G:p.V82G;NEDD4L:NM_001144967:exon5:c.T245G:p.V82G;NEDD4L:NM_001144968:exon5:c.T221G:p.V74G;NEDD4L:NM_001243960:exon5:c.T245G:p.V82G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.T245G:p.V82G;ENSG00000049759:ENST00000256830:exon5:c.T245G:p.V82G;ENSG00000049759:ENST00000357895:exon5:c.T221G:p.V74G;ENSG00000049759:ENST00000356462:exon5:c.T245G:p.V82G;ENSG00000049759:ENST00000400345:exon5:c.T245G:p.V82G;ENSG00000049759:ENST00000586263:exon5:c.T221G:p.V74G;	0.265771789480597	0.512
18	55919284	C	A	18	58252052	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.C271A:p.L91M;NEDD4L:NM_015277:exon5:c.C295A:p.L99M;NEDD4L:NM_001144967:exon5:c.C295A:p.L99M;NEDD4L:NM_001144968:exon5:c.C271A:p.L91M;NEDD4L:NM_001243960:exon5:c.C295A:p.L99M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.C295A:p.L99M;ENSG00000049759:ENST00000256830:exon5:c.C295A:p.L99M;ENSG00000049759:ENST00000357895:exon5:c.C271A:p.L91M;ENSG00000049759:ENST00000356462:exon5:c.C295A:p.L99M;ENSG00000049759:ENST00000400345:exon5:c.C295A:p.L99M;ENSG00000049759:ENST00000586263:exon5:c.C271A:p.L91M;	3.57941406116701E-5	0.016
18	55919284	C	G	18	58252052	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.C271G:p.L91V;NEDD4L:NM_015277:exon5:c.C295G:p.L99V;NEDD4L:NM_001144967:exon5:c.C295G:p.L99V;NEDD4L:NM_001144968:exon5:c.C271G:p.L91V;NEDD4L:NM_001243960:exon5:c.C295G:p.L99V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.C295G:p.L99V;ENSG00000049759:ENST00000256830:exon5:c.C295G:p.L99V;ENSG00000049759:ENST00000357895:exon5:c.C271G:p.L91V;ENSG00000049759:ENST00000356462:exon5:c.C295G:p.L99V;ENSG00000049759:ENST00000400345:exon5:c.C295G:p.L99V;ENSG00000049759:ENST00000586263:exon5:c.C271G:p.L91V;	1.10689346872865E-4	0.018
18	55919284	C	T	18	58252052	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon5:c.C271T:p.L91L;NEDD4L:NM_015277:exon5:c.C295T:p.L99L;NEDD4L:NM_001144967:exon5:c.C295T:p.L99L;NEDD4L:NM_001144968:exon5:c.C271T:p.L91L;NEDD4L:NM_001243960:exon5:c.C295T:p.L99L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.C295T:p.L99L;ENSG00000049759:ENST00000256830:exon5:c.C295T:p.L99L;ENSG00000049759:ENST00000357895:exon5:c.C271T:p.L91L;ENSG00000049759:ENST00000356462:exon5:c.C295T:p.L99L;ENSG00000049759:ENST00000400345:exon5:c.C295T:p.L99L;ENSG00000049759:ENST00000586263:exon5:c.C271T:p.L91L;	1.60416449390767E-4	0.014
18	55919285	T	A	18	58252053	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.T272A:p.L91Q;NEDD4L:NM_015277:exon5:c.T296A:p.L99Q;NEDD4L:NM_001144967:exon5:c.T296A:p.L99Q;NEDD4L:NM_001144968:exon5:c.T272A:p.L91Q;NEDD4L:NM_001243960:exon5:c.T296A:p.L99Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.T296A:p.L99Q;ENSG00000049759:ENST00000256830:exon5:c.T296A:p.L99Q;ENSG00000049759:ENST00000357895:exon5:c.T272A:p.L91Q;ENSG00000049759:ENST00000356462:exon5:c.T296A:p.L99Q;ENSG00000049759:ENST00000400345:exon5:c.T296A:p.L99Q;ENSG00000049759:ENST00000586263:exon5:c.T272A:p.L91Q;	0.73531058625532	0.618
18	55919285	T	C	18	58252053	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.T272C:p.L91P;NEDD4L:NM_015277:exon5:c.T296C:p.L99P;NEDD4L:NM_001144967:exon5:c.T296C:p.L99P;NEDD4L:NM_001144968:exon5:c.T272C:p.L91P;NEDD4L:NM_001243960:exon5:c.T296C:p.L99P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.T296C:p.L99P;ENSG00000049759:ENST00000256830:exon5:c.T296C:p.L99P;ENSG00000049759:ENST00000357895:exon5:c.T272C:p.L91P;ENSG00000049759:ENST00000356462:exon5:c.T296C:p.L99P;ENSG00000049759:ENST00000400345:exon5:c.T296C:p.L99P;ENSG00000049759:ENST00000586263:exon5:c.T272C:p.L91P;	0.943425275831719	0.716
18	55919285	T	G	18	58252053	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon5:c.T272G:p.L91R;NEDD4L:NM_015277:exon5:c.T296G:p.L99R;NEDD4L:NM_001144967:exon5:c.T296G:p.L99R;NEDD4L:NM_001144968:exon5:c.T272G:p.L91R;NEDD4L:NM_001243960:exon5:c.T296G:p.L99R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.T296G:p.L99R;ENSG00000049759:ENST00000256830:exon5:c.T296G:p.L99R;ENSG00000049759:ENST00000357895:exon5:c.T272G:p.L91R;ENSG00000049759:ENST00000356462:exon5:c.T296G:p.L99R;ENSG00000049759:ENST00000400345:exon5:c.T296G:p.L99R;ENSG00000049759:ENST00000586263:exon5:c.T272G:p.L91R;	0.833289794083706	0.726
18	55919286	G	A	18	58252054	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon5:c.G273A:p.L91L;NEDD4L:NM_015277:exon5:c.G297A:p.L99L;NEDD4L:NM_001144967:exon5:c.G297A:p.L99L;NEDD4L:NM_001144968:exon5:c.G273A:p.L91L;NEDD4L:NM_001243960:exon5:c.G297A:p.L99L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.G297A:p.L99L;ENSG00000049759:ENST00000256830:exon5:c.G297A:p.L99L;ENSG00000049759:ENST00000357895:exon5:c.G273A:p.L91L;ENSG00000049759:ENST00000356462:exon5:c.G297A:p.L99L;ENSG00000049759:ENST00000400345:exon5:c.G297A:p.L99L;ENSG00000049759:ENST00000586263:exon5:c.G273A:p.L91L;	0.926516977461565	0.532
18	55919286	G	C	18	58252054	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon5:c.G273C:p.L91L;NEDD4L:NM_015277:exon5:c.G297C:p.L99L;NEDD4L:NM_001144967:exon5:c.G297C:p.L99L;NEDD4L:NM_001144968:exon5:c.G273C:p.L91L;NEDD4L:NM_001243960:exon5:c.G297C:p.L99L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.G297C:p.L99L;ENSG00000049759:ENST00000256830:exon5:c.G297C:p.L99L;ENSG00000049759:ENST00000357895:exon5:c.G273C:p.L91L;ENSG00000049759:ENST00000356462:exon5:c.G297C:p.L99L;ENSG00000049759:ENST00000400345:exon5:c.G297C:p.L99L;ENSG00000049759:ENST00000586263:exon5:c.G273C:p.L91L;	0.986663988894325	0.668
18	55919286	G	T	18	58252054	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon5:c.G273T:p.L91L;NEDD4L:NM_015277:exon5:c.G297T:p.L99L;NEDD4L:NM_001144967:exon5:c.G297T:p.L99L;NEDD4L:NM_001144968:exon5:c.G273T:p.L91L;NEDD4L:NM_001243960:exon5:c.G297T:p.L99L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon5:c.G297T:p.L99L;ENSG00000049759:ENST00000256830:exon5:c.G297T:p.L99L;ENSG00000049759:ENST00000357895:exon5:c.G273T:p.L91L;ENSG00000049759:ENST00000356462:exon5:c.G297T:p.L99L;ENSG00000049759:ENST00000400345:exon5:c.G297T:p.L99L;ENSG00000049759:ENST00000586263:exon5:c.G273T:p.L91L;	0.978194614785561	0.516
18	55919287	G	A	18	58252055	y	y	splicing	NEDD4L(NM_001144967:exon5:c.297+1G>A;NM_001243960:exon5:c.297+1G>A;NM_015277:exon5:c.297+1G>A;NM_001144968:exon5:c.273+1G>A;NM_001144969:exon5:c.273+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.297+1G>A;ENST00000400345:exon5:c.297+1G>A;ENST00000382850:exon5:c.297+1G>A;ENST00000256830:exon5:c.297+1G>A;ENST00000357895:exon5:c.273+1G>A;ENST00000586263:exon5:c.273+1G>A)	.	.	0.999938990645747	0.94
18	55919287	G	C	18	58252055	y	y	splicing	NEDD4L(NM_001144967:exon5:c.297+1G>C;NM_001243960:exon5:c.297+1G>C;NM_015277:exon5:c.297+1G>C;NM_001144968:exon5:c.273+1G>C;NM_001144969:exon5:c.273+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.297+1G>C;ENST00000400345:exon5:c.297+1G>C;ENST00000382850:exon5:c.297+1G>C;ENST00000256830:exon5:c.297+1G>C;ENST00000357895:exon5:c.273+1G>C;ENST00000586263:exon5:c.273+1G>C)	.	.	0.999960200702261	0.938
18	55919287	G	T	18	58252055	y	y	splicing	NEDD4L(NM_001144967:exon5:c.297+1G>T;NM_001243960:exon5:c.297+1G>T;NM_015277:exon5:c.297+1G>T;NM_001144968:exon5:c.273+1G>T;NM_001144969:exon5:c.273+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.297+1G>T;ENST00000400345:exon5:c.297+1G>T;ENST00000382850:exon5:c.297+1G>T;ENST00000256830:exon5:c.297+1G>T;ENST00000357895:exon5:c.273+1G>T;ENST00000586263:exon5:c.273+1G>T)	.	.	0.999960200702261	0.938
18	55919288	T	A	18	58252056	y	y	splicing	NEDD4L(NM_001144967:exon5:c.297+2T>A;NM_001243960:exon5:c.297+2T>A;NM_015277:exon5:c.297+2T>A;NM_001144968:exon5:c.273+2T>A;NM_001144969:exon5:c.273+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.297+2T>A;ENST00000400345:exon5:c.297+2T>A;ENST00000382850:exon5:c.297+2T>A;ENST00000256830:exon5:c.297+2T>A;ENST00000357895:exon5:c.273+2T>A;ENST00000586263:exon5:c.273+2T>A)	.	.	0.999978156327223	0.934
18	55919288	T	C	18	58252056	y	y	splicing	NEDD4L(NM_001144967:exon5:c.297+2T>C;NM_001243960:exon5:c.297+2T>C;NM_015277:exon5:c.297+2T>C;NM_001144968:exon5:c.273+2T>C;NM_001144969:exon5:c.273+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.297+2T>C;ENST00000400345:exon5:c.297+2T>C;ENST00000382850:exon5:c.297+2T>C;ENST00000256830:exon5:c.297+2T>C;ENST00000357895:exon5:c.273+2T>C;ENST00000586263:exon5:c.273+2T>C)	.	.	0.98035857387165	0.564
18	55919288	T	G	18	58252056	y	y	splicing	NEDD4L(NM_001144967:exon5:c.297+2T>G;NM_001243960:exon5:c.297+2T>G;NM_015277:exon5:c.297+2T>G;NM_001144968:exon5:c.273+2T>G;NM_001144969:exon5:c.273+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon5:c.297+2T>G;ENST00000400345:exon5:c.297+2T>G;ENST00000382850:exon5:c.297+2T>G;ENST00000256830:exon5:c.297+2T>G;ENST00000357895:exon5:c.273+2T>G;ENST00000586263:exon5:c.273+2T>G)	.	.	0.99997739437695	0.93
18	55919289	A	C	18	58252057	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.978130272930474	0.716
18	55919289	A	G	18	58252057	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00185848038715483	0.052
18	55919289	A	T	18	58252057	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.986243538452652	0.67
18	55919290	A	C	18	58252058	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.552440258834658	0.508
18	55919290	A	G	18	58252058	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.382901611737789	0.478
18	55919290	A	T	18	58252058	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.628897649421124	0.542
18	55919291	G	A	18	58252059	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999634316034931	0.92
18	55919291	G	C	18	58252059	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999915531493955	0.884
18	55919291	G	T	18	58252059	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999847381482183	0.856
18	55919292	T	A	18	58252060	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00492287347514775	0.142
18	55919292	T	C	18	58252060	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.014022218983613	0.182
18	55919292	T	G	18	58252060	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.45193553844825E-4	0.096
18	55919293	G	A	18	58252061	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.45821626598547E-5	0.0
18	55919293	G	C	18	58252061	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.45821626598547E-5	0.0
18	55919293	G	T	18	58252061	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.24023682483842E-5	0.0
18	55919294	G	A	18	58252062	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.09284186438967E-5	0.0
18	55919294	G	C	18	58252062	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.09284186438967E-5	0.0
18	55919294	G	T	18	58252062	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.09284186438967E-5	0.0
18	55983202	T	A	18	58315970	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.457027841592678	0.402
18	55983202	T	C	18	58315970	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0017313792648717	0.038
18	55983202	T	G	18	58315970	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.279316420994835	0.37
18	55983203	C	A	18	58315971	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.109478122854628	0.24
18	55983203	C	G	18	58315971	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0543160717271736	0.172
18	55983203	C	T	18	58315971	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.015784548389667	0.21
18	55983204	T	A	18	58315972	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.271627389398372	0.348
18	55983204	T	C	18	58315972	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00122874684265995	0.034
18	55983204	T	G	18	58315972	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0949556062379542	0.296
18	55983205	T	A	18	58315973	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0537104033112255	0.148
18	55983205	T	C	18	58315973	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.79044218277806E-4	0.018
18	55983205	T	G	18	58315973	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0196735120682093	0.066
18	55983206	C	A	18	58315974	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0151272278093069	0.058
18	55983206	C	G	18	58315974	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0311392334074666	0.126
18	55983206	C	T	18	58315974	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.34030184285261E-4	0.022
18	55983207	C	A	18	58315975	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00710557392707289	0.146
18	55983207	C	G	18	58315975	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00190090543644703	0.128
18	55983207	C	T	18	58315975	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.29531517156168E-4	0.032
18	55983208	T	A	18	58315976	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.80171062878827E-4	0.128
18	55983208	T	C	18	58315976	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.43002762803581E-5	0.052
18	55983208	T	G	18	58315976	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00374732830723219	0.122
18	55983209	A	C	18	58315977	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.01063365328004E-5	0.0
18	55983209	A	G	18	58315977	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.16174495095324E-4	0.006
18	55983209	A	T	18	58315977	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.37340787931255E-5	0.0
18	55983210	A	C	18	58315978	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00939475983544772	0.174
18	55983210	A	G	18	58315978	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.97255510757079	0.626
18	55983210	A	T	18	58315978	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.278322420885042	0.404
18	55983211	C	A	18	58315979	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999855936580135	0.968
18	55983211	C	G	18	58315979	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999953667727123	0.982
18	55983211	C	T	18	58315979	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.987640304646187	0.424
18	55983212	A	C	18	58315980	y	y	splicing	NEDD4L(NM_001144967:exon6:c.298-2A>C;NM_001243960:exon6:c.298-2A>C;NM_015277:exon6:c.298-2A>C;NM_001144968:exon6:c.274-2A>C;NM_001144969:exon6:c.274-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.298-2A>C;ENST00000400345:exon6:c.298-2A>C;ENST00000382850:exon6:c.298-2A>C;ENST00000256830:exon6:c.298-2A>C;ENST00000357895:exon6:c.274-2A>C;ENST00000586263:exon6:c.274-2A>C)	.	.	0.999988247793601	0.932
18	55983212	A	G	18	58315980	y	y	splicing	NEDD4L(NM_001144967:exon6:c.298-2A>G;NM_001243960:exon6:c.298-2A>G;NM_015277:exon6:c.298-2A>G;NM_001144968:exon6:c.274-2A>G;NM_001144969:exon6:c.274-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.298-2A>G;ENST00000400345:exon6:c.298-2A>G;ENST00000382850:exon6:c.298-2A>G;ENST00000256830:exon6:c.298-2A>G;ENST00000357895:exon6:c.274-2A>G;ENST00000586263:exon6:c.274-2A>G)	.	.	0.999988247793601	0.932
18	55983212	A	T	18	58315980	y	y	splicing	NEDD4L(NM_001144967:exon6:c.298-2A>T;NM_001243960:exon6:c.298-2A>T;NM_015277:exon6:c.298-2A>T;NM_001144968:exon6:c.274-2A>T;NM_001144969:exon6:c.274-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.298-2A>T;ENST00000400345:exon6:c.298-2A>T;ENST00000382850:exon6:c.298-2A>T;ENST00000256830:exon6:c.298-2A>T;ENST00000357895:exon6:c.274-2A>T;ENST00000586263:exon6:c.274-2A>T)	.	.	0.999988247793601	0.932
18	55983213	G	A	18	58315981	y	y	splicing	NEDD4L(NM_001144967:exon6:c.298-1G>A;NM_001243960:exon6:c.298-1G>A;NM_015277:exon6:c.298-1G>A;NM_001144968:exon6:c.274-1G>A;NM_001144969:exon6:c.274-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.298-1G>A;ENST00000400345:exon6:c.298-1G>A;ENST00000382850:exon6:c.298-1G>A;ENST00000256830:exon6:c.298-1G>A;ENST00000357895:exon6:c.274-1G>A;ENST00000586263:exon6:c.274-1G>A)	.	.	0.999990361384395	0.938
18	55983213	G	C	18	58315981	y	y	splicing	NEDD4L(NM_001144967:exon6:c.298-1G>C;NM_001243960:exon6:c.298-1G>C;NM_015277:exon6:c.298-1G>C;NM_001144968:exon6:c.274-1G>C;NM_001144969:exon6:c.274-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.298-1G>C;ENST00000400345:exon6:c.298-1G>C;ENST00000382850:exon6:c.298-1G>C;ENST00000256830:exon6:c.298-1G>C;ENST00000357895:exon6:c.274-1G>C;ENST00000586263:exon6:c.274-1G>C)	.	.	0.999990361384395	0.938
18	55983213	G	T	18	58315981	y	y	splicing	NEDD4L(NM_001144967:exon6:c.298-1G>T;NM_001243960:exon6:c.298-1G>T;NM_015277:exon6:c.298-1G>T;NM_001144968:exon6:c.274-1G>T;NM_001144969:exon6:c.274-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.298-1G>T;ENST00000400345:exon6:c.298-1G>T;ENST00000382850:exon6:c.298-1G>T;ENST00000256830:exon6:c.298-1G>T;ENST00000357895:exon6:c.274-1G>T;ENST00000586263:exon6:c.274-1G>T)	.	.	0.999990361384395	0.938
18	55983214	A	C	18	58315982	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.A274C:p.T92P;NEDD4L:NM_015277:exon6:c.A298C:p.T100P;NEDD4L:NM_001144967:exon6:c.A298C:p.T100P;NEDD4L:NM_001144968:exon6:c.A274C:p.T92P;NEDD4L:NM_001243960:exon6:c.A298C:p.T100P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.A298C:p.T100P;ENSG00000049759:ENST00000256830:exon6:c.A298C:p.T100P;ENSG00000049759:ENST00000357895:exon6:c.A274C:p.T92P;ENSG00000049759:ENST00000356462:exon6:c.A298C:p.T100P;ENSG00000049759:ENST00000400345:exon6:c.A298C:p.T100P;ENSG00000049759:ENST00000586263:exon6:c.A274C:p.T92P;	0.851623215653315	0.604
18	55983214	A	G	18	58315982	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.A274G:p.T92A;NEDD4L:NM_015277:exon6:c.A298G:p.T100A;NEDD4L:NM_001144967:exon6:c.A298G:p.T100A;NEDD4L:NM_001144968:exon6:c.A274G:p.T92A;NEDD4L:NM_001243960:exon6:c.A298G:p.T100A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.A298G:p.T100A;ENSG00000049759:ENST00000256830:exon6:c.A298G:p.T100A;ENSG00000049759:ENST00000357895:exon6:c.A274G:p.T92A;ENSG00000049759:ENST00000356462:exon6:c.A298G:p.T100A;ENSG00000049759:ENST00000400345:exon6:c.A298G:p.T100A;ENSG00000049759:ENST00000586263:exon6:c.A274G:p.T92A;	0.727391414848024	0.698
18	55983214	A	T	18	58315982	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.A274T:p.T92S;NEDD4L:NM_015277:exon6:c.A298T:p.T100S;NEDD4L:NM_001144967:exon6:c.A298T:p.T100S;NEDD4L:NM_001144968:exon6:c.A274T:p.T92S;NEDD4L:NM_001243960:exon6:c.A298T:p.T100S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.A298T:p.T100S;ENSG00000049759:ENST00000256830:exon6:c.A298T:p.T100S;ENSG00000049759:ENST00000357895:exon6:c.A274T:p.T92S;ENSG00000049759:ENST00000356462:exon6:c.A298T:p.T100S;ENSG00000049759:ENST00000400345:exon6:c.A298T:p.T100S;ENSG00000049759:ENST00000586263:exon6:c.A274T:p.T92S;	0.8321635132949	0.536
18	55983215	C	A	18	58315983	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C275A:p.T92K;NEDD4L:NM_015277:exon6:c.C299A:p.T100K;NEDD4L:NM_001144967:exon6:c.C299A:p.T100K;NEDD4L:NM_001144968:exon6:c.C275A:p.T92K;NEDD4L:NM_001243960:exon6:c.C299A:p.T100K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C299A:p.T100K;ENSG00000049759:ENST00000256830:exon6:c.C299A:p.T100K;ENSG00000049759:ENST00000357895:exon6:c.C275A:p.T92K;ENSG00000049759:ENST00000356462:exon6:c.C299A:p.T100K;ENSG00000049759:ENST00000400345:exon6:c.C299A:p.T100K;ENSG00000049759:ENST00000586263:exon6:c.C275A:p.T92K;	0.99455331839521	0.868
18	55983215	C	G	18	58315983	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C275G:p.T92R;NEDD4L:NM_015277:exon6:c.C299G:p.T100R;NEDD4L:NM_001144967:exon6:c.C299G:p.T100R;NEDD4L:NM_001144968:exon6:c.C275G:p.T92R;NEDD4L:NM_001243960:exon6:c.C299G:p.T100R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C299G:p.T100R;ENSG00000049759:ENST00000256830:exon6:c.C299G:p.T100R;ENSG00000049759:ENST00000357895:exon6:c.C275G:p.T92R;ENSG00000049759:ENST00000356462:exon6:c.C299G:p.T100R;ENSG00000049759:ENST00000400345:exon6:c.C299G:p.T100R;ENSG00000049759:ENST00000586263:exon6:c.C275G:p.T92R;	0.98642146613686	0.826
18	55983215	C	T	18	58315983	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C275T:p.T92I;NEDD4L:NM_015277:exon6:c.C299T:p.T100I;NEDD4L:NM_001144967:exon6:c.C299T:p.T100I;NEDD4L:NM_001144968:exon6:c.C275T:p.T92I;NEDD4L:NM_001243960:exon6:c.C299T:p.T100I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C299T:p.T100I;ENSG00000049759:ENST00000256830:exon6:c.C299T:p.T100I;ENSG00000049759:ENST00000357895:exon6:c.C275T:p.T92I;ENSG00000049759:ENST00000356462:exon6:c.C299T:p.T100I;ENSG00000049759:ENST00000400345:exon6:c.C299T:p.T100I;ENSG00000049759:ENST00000586263:exon6:c.C275T:p.T92I;	0.986475172586073	0.894
18	55983262	C	A	18	58316030	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C322A:p.P108T;NEDD4L:NM_015277:exon6:c.C346A:p.P116T;NEDD4L:NM_001144967:exon6:c.C346A:p.P116T;NEDD4L:NM_001144968:exon6:c.C322A:p.P108T;NEDD4L:NM_001243960:exon6:c.C346A:p.P116T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C346A:p.P116T;ENSG00000049759:ENST00000256830:exon6:c.C346A:p.P116T;ENSG00000049759:ENST00000357895:exon6:c.C322A:p.P108T;ENSG00000049759:ENST00000356462:exon6:c.C346A:p.P116T;ENSG00000049759:ENST00000400345:exon6:c.C346A:p.P116T;ENSG00000049759:ENST00000586263:exon6:c.C322A:p.P108T;	0.962742850491569	0.748
18	55983262	C	G	18	58316030	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C322G:p.P108A;NEDD4L:NM_015277:exon6:c.C346G:p.P116A;NEDD4L:NM_001144967:exon6:c.C346G:p.P116A;NEDD4L:NM_001144968:exon6:c.C322G:p.P108A;NEDD4L:NM_001243960:exon6:c.C346G:p.P116A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C346G:p.P116A;ENSG00000049759:ENST00000256830:exon6:c.C346G:p.P116A;ENSG00000049759:ENST00000357895:exon6:c.C322G:p.P108A;ENSG00000049759:ENST00000356462:exon6:c.C346G:p.P116A;ENSG00000049759:ENST00000400345:exon6:c.C346G:p.P116A;ENSG00000049759:ENST00000586263:exon6:c.C322G:p.P108A;	0.939299309100234	0.658
18	55983262	C	T	18	58316030	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C322T:p.P108S;NEDD4L:NM_015277:exon6:c.C346T:p.P116S;NEDD4L:NM_001144967:exon6:c.C346T:p.P116S;NEDD4L:NM_001144968:exon6:c.C322T:p.P108S;NEDD4L:NM_001243960:exon6:c.C346T:p.P116S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C346T:p.P116S;ENSG00000049759:ENST00000256830:exon6:c.C346T:p.P116S;ENSG00000049759:ENST00000357895:exon6:c.C322T:p.P108S;ENSG00000049759:ENST00000356462:exon6:c.C346T:p.P116S;ENSG00000049759:ENST00000400345:exon6:c.C346T:p.P116S;ENSG00000049759:ENST00000586263:exon6:c.C322T:p.P108S;	0.998502624219848	0.696
18	55983263	C	A	18	58316031	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C323A:p.P108Q;NEDD4L:NM_015277:exon6:c.C347A:p.P116Q;NEDD4L:NM_001144967:exon6:c.C347A:p.P116Q;NEDD4L:NM_001144968:exon6:c.C323A:p.P108Q;NEDD4L:NM_001243960:exon6:c.C347A:p.P116Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C347A:p.P116Q;ENSG00000049759:ENST00000256830:exon6:c.C347A:p.P116Q;ENSG00000049759:ENST00000357895:exon6:c.C323A:p.P108Q;ENSG00000049759:ENST00000356462:exon6:c.C347A:p.P116Q;ENSG00000049759:ENST00000400345:exon6:c.C347A:p.P116Q;ENSG00000049759:ENST00000586263:exon6:c.C323A:p.P108Q;	0.979561134449283	0.756
18	55983263	C	G	18	58316031	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C323G:p.P108R;NEDD4L:NM_015277:exon6:c.C347G:p.P116R;NEDD4L:NM_001144967:exon6:c.C347G:p.P116R;NEDD4L:NM_001144968:exon6:c.C323G:p.P108R;NEDD4L:NM_001243960:exon6:c.C347G:p.P116R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C347G:p.P116R;ENSG00000049759:ENST00000256830:exon6:c.C347G:p.P116R;ENSG00000049759:ENST00000357895:exon6:c.C323G:p.P108R;ENSG00000049759:ENST00000356462:exon6:c.C347G:p.P116R;ENSG00000049759:ENST00000400345:exon6:c.C347G:p.P116R;ENSG00000049759:ENST00000586263:exon6:c.C323G:p.P108R;	0.991697682699855	0.852
18	55983263	C	T	18	58316031	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon6:c.C323T:p.P108L;NEDD4L:NM_015277:exon6:c.C347T:p.P116L;NEDD4L:NM_001144967:exon6:c.C347T:p.P116L;NEDD4L:NM_001144968:exon6:c.C323T:p.P108L;NEDD4L:NM_001243960:exon6:c.C347T:p.P116L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.C347T:p.P116L;ENSG00000049759:ENST00000256830:exon6:c.C347T:p.P116L;ENSG00000049759:ENST00000357895:exon6:c.C323T:p.P108L;ENSG00000049759:ENST00000356462:exon6:c.C347T:p.P116L;ENSG00000049759:ENST00000400345:exon6:c.C347T:p.P116L;ENSG00000049759:ENST00000586263:exon6:c.C323T:p.P108L;	0.994300344333568	0.87
18	55983264	G	A	18	58316032	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon6:c.G324A:p.P108P;NEDD4L:NM_015277:exon6:c.G348A:p.P116P;NEDD4L:NM_001144967:exon6:c.G348A:p.P116P;NEDD4L:NM_001144968:exon6:c.G324A:p.P108P;NEDD4L:NM_001243960:exon6:c.G348A:p.P116P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.G348A:p.P116P;ENSG00000049759:ENST00000256830:exon6:c.G348A:p.P116P;ENSG00000049759:ENST00000357895:exon6:c.G324A:p.P108P;ENSG00000049759:ENST00000356462:exon6:c.G348A:p.P116P;ENSG00000049759:ENST00000400345:exon6:c.G348A:p.P116P;ENSG00000049759:ENST00000586263:exon6:c.G324A:p.P108P;	0.999932284645548	0.978
18	55983264	G	C	18	58316032	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon6:c.G324C:p.P108P;NEDD4L:NM_015277:exon6:c.G348C:p.P116P;NEDD4L:NM_001144967:exon6:c.G348C:p.P116P;NEDD4L:NM_001144968:exon6:c.G324C:p.P108P;NEDD4L:NM_001243960:exon6:c.G348C:p.P116P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.G348C:p.P116P;ENSG00000049759:ENST00000256830:exon6:c.G348C:p.P116P;ENSG00000049759:ENST00000357895:exon6:c.G324C:p.P108P;ENSG00000049759:ENST00000356462:exon6:c.G348C:p.P116P;ENSG00000049759:ENST00000400345:exon6:c.G348C:p.P116P;ENSG00000049759:ENST00000586263:exon6:c.G324C:p.P108P;	0.999988870262555	0.98
18	55983264	G	T	18	58316032	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon6:c.G324T:p.P108P;NEDD4L:NM_015277:exon6:c.G348T:p.P116P;NEDD4L:NM_001144967:exon6:c.G348T:p.P116P;NEDD4L:NM_001144968:exon6:c.G324T:p.P108P;NEDD4L:NM_001243960:exon6:c.G348T:p.P116P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000382850:exon6:c.G348T:p.P116P;ENSG00000049759:ENST00000256830:exon6:c.G348T:p.P116P;ENSG00000049759:ENST00000357895:exon6:c.G324T:p.P108P;ENSG00000049759:ENST00000356462:exon6:c.G348T:p.P116P;ENSG00000049759:ENST00000400345:exon6:c.G348T:p.P116P;ENSG00000049759:ENST00000586263:exon6:c.G324T:p.P108P;	0.999981712637041	0.874
18	55983265	G	A	18	58316033	y	y	splicing	NEDD4L(NM_001144967:exon6:c.348+1G>A;NM_001243960:exon6:c.348+1G>A;NM_015277:exon6:c.348+1G>A;NM_001144968:exon6:c.324+1G>A;NM_001144969:exon6:c.324+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.348+1G>A;ENST00000400345:exon6:c.348+1G>A;ENST00000382850:exon6:c.348+1G>A;ENST00000256830:exon6:c.348+1G>A;ENST00000357895:exon6:c.324+1G>A;ENST00000586263:exon6:c.324+1G>A)	.	.	0.999990361384395	0.938
18	55983265	G	C	18	58316033	y	y	splicing	NEDD4L(NM_001144967:exon6:c.348+1G>C;NM_001243960:exon6:c.348+1G>C;NM_015277:exon6:c.348+1G>C;NM_001144968:exon6:c.324+1G>C;NM_001144969:exon6:c.324+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.348+1G>C;ENST00000400345:exon6:c.348+1G>C;ENST00000382850:exon6:c.348+1G>C;ENST00000256830:exon6:c.348+1G>C;ENST00000357895:exon6:c.324+1G>C;ENST00000586263:exon6:c.324+1G>C)	.	.	0.999990361384395	0.938
18	55983265	G	T	18	58316033	y	y	splicing	NEDD4L(NM_001144967:exon6:c.348+1G>T;NM_001243960:exon6:c.348+1G>T;NM_015277:exon6:c.348+1G>T;NM_001144968:exon6:c.324+1G>T;NM_001144969:exon6:c.324+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.348+1G>T;ENST00000400345:exon6:c.348+1G>T;ENST00000382850:exon6:c.348+1G>T;ENST00000256830:exon6:c.348+1G>T;ENST00000357895:exon6:c.324+1G>T;ENST00000586263:exon6:c.324+1G>T)	.	.	0.999990361384395	0.938
18	55983266	T	A	18	58316034	y	y	splicing	NEDD4L(NM_001144967:exon6:c.348+2T>A;NM_001243960:exon6:c.348+2T>A;NM_015277:exon6:c.348+2T>A;NM_001144968:exon6:c.324+2T>A;NM_001144969:exon6:c.324+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.348+2T>A;ENST00000400345:exon6:c.348+2T>A;ENST00000382850:exon6:c.348+2T>A;ENST00000256830:exon6:c.348+2T>A;ENST00000357895:exon6:c.324+2T>A;ENST00000586263:exon6:c.324+2T>A)	.	.	0.999988247793601	0.932
18	55983266	T	C	18	58316034	y	y	splicing	NEDD4L(NM_001144967:exon6:c.348+2T>C;NM_001243960:exon6:c.348+2T>C;NM_015277:exon6:c.348+2T>C;NM_001144968:exon6:c.324+2T>C;NM_001144969:exon6:c.324+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.348+2T>C;ENST00000400345:exon6:c.348+2T>C;ENST00000382850:exon6:c.348+2T>C;ENST00000256830:exon6:c.348+2T>C;ENST00000357895:exon6:c.324+2T>C;ENST00000586263:exon6:c.324+2T>C)	.	.	0.99991522016916	0.894
18	55983266	T	G	18	58316034	y	y	splicing	NEDD4L(NM_001144967:exon6:c.348+2T>G;NM_001243960:exon6:c.348+2T>G;NM_015277:exon6:c.348+2T>G;NM_001144968:exon6:c.324+2T>G;NM_001144969:exon6:c.324+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon6:c.348+2T>G;ENST00000400345:exon6:c.348+2T>G;ENST00000382850:exon6:c.348+2T>G;ENST00000256830:exon6:c.348+2T>G;ENST00000357895:exon6:c.324+2T>G;ENST00000586263:exon6:c.324+2T>G)	.	.	0.999988247793601	0.932
18	55983267	A	C	18	58316035	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998410328074973	0.938
18	55983267	A	G	18	58316035	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0874970699520819	0.292
18	55983267	A	T	18	58316035	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.988674570333884	0.798
18	55983268	A	C	18	58316036	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.989335080733207	0.894
18	55983268	A	G	18	58316036	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997709932130313	0.84
18	55983268	A	T	18	58316036	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997707992658892	0.892
18	55983269	G	A	18	58316037	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.987603209246422	0.748
18	55983269	G	C	18	58316037	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996616893968942	0.846
18	55983269	G	T	18	58316037	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998154479409473	0.854
18	55983270	G	A	18	58316038	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00121190704785901	0.016
18	55983270	G	C	18	58316038	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.80419515205544E-4	0.084
18	55983270	G	T	18	58316038	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.74942605582889E-4	0.0
18	55983271	A	C	18	58316039	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.24716330446453E-4	0.036
18	55983271	A	G	18	58316039	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.43945782128594E-4	0.038
18	55983271	A	T	18	58316039	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.93811894217098E-4	0.04
18	55983272	C	A	18	58316040	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.2649141439946E-4	0.0
18	55983272	C	G	18	58316040	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.68359037114868E-5	0.0
18	55983272	C	T	18	58316040	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.25291422347531E-4	0.026
18	55989645	T	A	18	58322413	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00129805762421875	0.126
18	55989645	T	C	18	58322413	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.434464526197E-4	0.006
18	55989645	T	G	18	58322413	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.23444327934601E-4	0.084
18	55989646	T	A	18	58322414	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.69221600221338E-4	0.112
18	55989646	T	C	18	58322414	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.63928772271758E-5	0.006
18	55989646	T	G	18	58322414	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.40409381051752E-5	0.068
18	55989647	T	A	18	58322415	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.10262404434931E-4	0.024
18	55989647	T	C	18	58322415	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.95453719077013E-5	0.0
18	55989647	T	G	18	58322415	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.7644952675683E-4	0.042
18	55989648	T	A	18	58322416	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.72533167351405E-4	0.038
18	55989648	T	C	18	58322416	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.11327404608767E-5	0.0
18	55989648	T	G	18	58322416	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.46825779082547E-4	0.04
18	55989649	C	A	18	58322417	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.9005468832774E-4	0.016
18	55989649	C	G	18	58322417	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.41568448766129E-4	0.008
18	55989649	C	T	18	58322417	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.64682563140454E-5	0.0
18	55989650	C	A	18	58322418	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00236664153127186	0.044
18	55989650	C	G	18	58322418	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00285904233425052	0.058
18	55989650	C	T	18	58322418	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.80725484424465E-5	0.002
18	55989651	C	A	18	58322419	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00206162775742763	0.084
18	55989651	C	G	18	58322419	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00117558456498907	0.094
18	55989651	C	T	18	58322419	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.08698152554155E-5	0.0
18	55989652	C	A	18	58322420	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.44402212160998E-5	0.04
18	55989652	C	G	18	58322420	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.65635640308079E-5	0.042
18	55989652	C	T	18	58322420	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.41094325470848E-5	0.006
18	55989653	A	C	18	58322421	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.63548269552115E-6	0.002
18	55989653	A	G	18	58322421	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.15428543267195E-5	0.0
18	55989653	A	T	18	58322421	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.50124193001868E-4	0.01
18	55989654	C	A	18	58322422	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.430717330160523	0.344
18	55989654	C	G	18	58322422	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998521513412578	0.846
18	55989654	C	T	18	58322422	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00107921814720831	0.014
18	55989655	A	C	18	58322423	y	y	splicing	NEDD4L(NM_001144967:exon7:c.349-2A>C;NM_001243960:exon7:c.349-2A>C;NM_015277:exon7:c.349-2A>C;NM_001144968:exon7:c.325-2A>C;NM_001144969:exon7:c.325-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.349-2A>C;ENST00000400345:exon7:c.349-2A>C;ENST00000382850:exon7:c.349-2A>C;ENST00000256830:exon7:c.349-2A>C;ENST00000357895:exon7:c.325-2A>C;ENST00000586263:exon7:c.325-2A>C)	.	.	0.999955521744805	0.934
18	55989655	A	G	18	58322423	y	y	splicing	NEDD4L(NM_001144967:exon7:c.349-2A>G;NM_001243960:exon7:c.349-2A>G;NM_015277:exon7:c.349-2A>G;NM_001144968:exon7:c.325-2A>G;NM_001144969:exon7:c.325-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.349-2A>G;ENST00000400345:exon7:c.349-2A>G;ENST00000382850:exon7:c.349-2A>G;ENST00000256830:exon7:c.349-2A>G;ENST00000357895:exon7:c.325-2A>G;ENST00000586263:exon7:c.325-2A>G)	.	.	0.999955521744805	0.934
18	55989655	A	T	18	58322423	y	y	splicing	NEDD4L(NM_001144967:exon7:c.349-2A>T;NM_001243960:exon7:c.349-2A>T;NM_015277:exon7:c.349-2A>T;NM_001144968:exon7:c.325-2A>T;NM_001144969:exon7:c.325-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.349-2A>T;ENST00000400345:exon7:c.349-2A>T;ENST00000382850:exon7:c.349-2A>T;ENST00000256830:exon7:c.349-2A>T;ENST00000357895:exon7:c.325-2A>T;ENST00000586263:exon7:c.325-2A>T)	.	.	0.999955107838025	0.936
18	55989656	G	A	18	58322424	y	y	splicing	NEDD4L(NM_001144967:exon7:c.349-1G>A;NM_001243960:exon7:c.349-1G>A;NM_015277:exon7:c.349-1G>A;NM_001144968:exon7:c.325-1G>A;NM_001144969:exon7:c.325-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.349-1G>A;ENST00000400345:exon7:c.349-1G>A;ENST00000382850:exon7:c.349-1G>A;ENST00000256830:exon7:c.349-1G>A;ENST00000357895:exon7:c.325-1G>A;ENST00000586263:exon7:c.325-1G>A)	.	.	0.999981760802075	0.936
18	55989656	G	C	18	58322424	y	y	splicing	NEDD4L(NM_001144967:exon7:c.349-1G>C;NM_001243960:exon7:c.349-1G>C;NM_015277:exon7:c.349-1G>C;NM_001144968:exon7:c.325-1G>C;NM_001144969:exon7:c.325-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.349-1G>C;ENST00000400345:exon7:c.349-1G>C;ENST00000382850:exon7:c.349-1G>C;ENST00000256830:exon7:c.349-1G>C;ENST00000357895:exon7:c.325-1G>C;ENST00000586263:exon7:c.325-1G>C)	.	.	0.999981760802075	0.936
18	55989656	G	T	18	58322424	y	y	splicing	NEDD4L(NM_001144967:exon7:c.349-1G>T;NM_001243960:exon7:c.349-1G>T;NM_015277:exon7:c.349-1G>T;NM_001144968:exon7:c.325-1G>T;NM_001144969:exon7:c.325-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.349-1G>T;ENST00000400345:exon7:c.349-1G>T;ENST00000382850:exon7:c.349-1G>T;ENST00000256830:exon7:c.349-1G>T;ENST00000357895:exon7:c.325-1G>T;ENST00000586263:exon7:c.325-1G>T)	.	.	0.999981760802075	0.936
18	55989657	A	C	18	58322425	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.A325C:p.T109P;NEDD4L:NM_015277:exon7:c.A349C:p.T117P;NEDD4L:NM_001144967:exon7:c.A349C:p.T117P;NEDD4L:NM_001144968:exon7:c.A325C:p.T109P;NEDD4L:NM_001243960:exon7:c.A349C:p.T117P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon7:c.A349C:p.T117P;ENSG00000049759:ENST00000256830:exon7:c.A349C:p.T117P;ENSG00000049759:ENST00000357895:exon7:c.A325C:p.T109P;ENSG00000049759:ENST00000356462:exon7:c.A349C:p.T117P;ENSG00000049759:ENST00000400345:exon7:c.A349C:p.T117P;ENSG00000049759:ENST00000586263:exon7:c.A325C:p.T109P;	0.0788719150033206	0.592
18	55989657	A	G	18	58322425	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.A325G:p.T109A;NEDD4L:NM_015277:exon7:c.A349G:p.T117A;NEDD4L:NM_001144967:exon7:c.A349G:p.T117A;NEDD4L:NM_001144968:exon7:c.A325G:p.T109A;NEDD4L:NM_001243960:exon7:c.A349G:p.T117A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon7:c.A349G:p.T117A;ENSG00000049759:ENST00000256830:exon7:c.A349G:p.T117A;ENSG00000049759:ENST00000357895:exon7:c.A325G:p.T109A;ENSG00000049759:ENST00000356462:exon7:c.A349G:p.T117A;ENSG00000049759:ENST00000400345:exon7:c.A349G:p.T117A;ENSG00000049759:ENST00000586263:exon7:c.A325G:p.T109A;	0.327911126974561	0.664
18	55989657	A	T	18	58322425	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.A325T:p.T109S;NEDD4L:NM_015277:exon7:c.A349T:p.T117S;NEDD4L:NM_001144967:exon7:c.A349T:p.T117S;NEDD4L:NM_001144968:exon7:c.A325T:p.T109S;NEDD4L:NM_001243960:exon7:c.A349T:p.T117S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon7:c.A349T:p.T117S;ENSG00000049759:ENST00000256830:exon7:c.A349T:p.T117S;ENSG00000049759:ENST00000357895:exon7:c.A325T:p.T109S;ENSG00000049759:ENST00000356462:exon7:c.A349T:p.T117S;ENSG00000049759:ENST00000400345:exon7:c.A349T:p.T117S;ENSG00000049759:ENST00000586263:exon7:c.A325T:p.T109S;	0.103477178283282	0.534
18	55989658	C	A	18	58322426	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.C326A:p.T109K;NEDD4L:NM_015277:exon7:c.C350A:p.T117K;NEDD4L:NM_001144967:exon7:c.C350A:p.T117K;NEDD4L:NM_001144968:exon7:c.C326A:p.T109K;NEDD4L:NM_001243960:exon7:c.C350A:p.T117K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon7:c.C350A:p.T117K;ENSG00000049759:ENST00000256830:exon7:c.C350A:p.T117K;ENSG00000049759:ENST00000357895:exon7:c.C326A:p.T109K;ENSG00000049759:ENST00000356462:exon7:c.C350A:p.T117K;ENSG00000049759:ENST00000400345:exon7:c.C350A:p.T117K;ENSG00000049759:ENST00000586263:exon7:c.C326A:p.T109K;	0.73270891716143	0.554
18	55989658	C	G	18	58322426	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.C326G:p.T109R;NEDD4L:NM_015277:exon7:c.C350G:p.T117R;NEDD4L:NM_001144967:exon7:c.C350G:p.T117R;NEDD4L:NM_001144968:exon7:c.C326G:p.T109R;NEDD4L:NM_001243960:exon7:c.C350G:p.T117R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon7:c.C350G:p.T117R;ENSG00000049759:ENST00000256830:exon7:c.C350G:p.T117R;ENSG00000049759:ENST00000357895:exon7:c.C326G:p.T109R;ENSG00000049759:ENST00000356462:exon7:c.C350G:p.T117R;ENSG00000049759:ENST00000400345:exon7:c.C350G:p.T117R;ENSG00000049759:ENST00000586263:exon7:c.C326G:p.T109R;	0.871374491081679	0.584
18	55989658	C	T	18	58322426	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.C326T:p.T109I;NEDD4L:NM_015277:exon7:c.C350T:p.T117I;NEDD4L:NM_001144967:exon7:c.C350T:p.T117I;NEDD4L:NM_001144968:exon7:c.C326T:p.T109I;NEDD4L:NM_001243960:exon7:c.C350T:p.T117I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000382850:exon7:c.C350T:p.T117I;ENSG00000049759:ENST00000256830:exon7:c.C350T:p.T117I;ENSG00000049759:ENST00000357895:exon7:c.C326T:p.T109I;ENSG00000049759:ENST00000356462:exon7:c.C350T:p.T117I;ENSG00000049759:ENST00000400345:exon7:c.C350T:p.T117I;ENSG00000049759:ENST00000586263:exon7:c.C326T:p.T109I;	0.898764507377366	0.756
18	55989716	A	C	18	58322484	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.A384C:p.R128S;NEDD4L:NM_001144964:exon7:c.A45C:p.R15S;NEDD4L:NM_015277:exon7:c.A408C:p.R136S;NEDD4L:NM_001144967:exon7:c.A408C:p.R136S;NEDD4L:NM_001144971:exon8:c.A45C:p.R15S;NEDD4L:NM_001144968:exon7:c.A384C:p.R128S;NEDD4L:NM_001144970:exon6:c.A45C:p.R15S;NEDD4L:NM_001144965:exon7:c.A45C:p.R15S;NEDD4L:NM_001144966:exon6:c.A45C:p.R15S;NEDD4L:NM_001243960:exon7:c.A408C:p.R136S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.A45C:p.R15S;ENSG00000049759:ENST00000382850:exon7:c.A408C:p.R136S;ENSG00000049759:ENST00000456986:exon7:c.A45C:p.R15S;ENSG00000049759:ENST00000256830:exon7:c.A408C:p.R136S;ENSG00000049759:ENST00000456173:exon6:c.A45C:p.R15S;ENSG00000049759:ENST00000357895:exon7:c.A384C:p.R128S;ENSG00000049759:ENST00000256832:exon7:c.A45C:p.R15S;ENSG00000049759:ENST00000431212:exon6:c.A45C:p.R15S;ENSG00000049759:ENST00000587190:exon7:c.A45C:p.R15S;ENSG00000049759:ENST00000356462:exon7:c.A408C:p.R136S;ENSG00000049759:ENST00000400345:exon7:c.A408C:p.R136S;ENSG00000049759:ENST00000588494:exon7:c.A45C:p.R15S;ENSG00000049759:ENST00000586263:exon7:c.A384C:p.R128S;ENSG00000049759:ENST00000586268:exon5:c.A45C:p.R15S;	3.33544162638396E-4	0.222
18	55989716	A	G	18	58322484	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon7:c.A384G:p.R128R;NEDD4L:NM_001144964:exon7:c.A45G:p.R15R;NEDD4L:NM_015277:exon7:c.A408G:p.R136R;NEDD4L:NM_001144967:exon7:c.A408G:p.R136R;NEDD4L:NM_001144971:exon8:c.A45G:p.R15R;NEDD4L:NM_001144968:exon7:c.A384G:p.R128R;NEDD4L:NM_001144970:exon6:c.A45G:p.R15R;NEDD4L:NM_001144965:exon7:c.A45G:p.R15R;NEDD4L:NM_001144966:exon6:c.A45G:p.R15R;NEDD4L:NM_001243960:exon7:c.A408G:p.R136R;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.A45G:p.R15R;ENSG00000049759:ENST00000382850:exon7:c.A408G:p.R136R;ENSG00000049759:ENST00000456986:exon7:c.A45G:p.R15R;ENSG00000049759:ENST00000256830:exon7:c.A408G:p.R136R;ENSG00000049759:ENST00000456173:exon6:c.A45G:p.R15R;ENSG00000049759:ENST00000357895:exon7:c.A384G:p.R128R;ENSG00000049759:ENST00000256832:exon7:c.A45G:p.R15R;ENSG00000049759:ENST00000431212:exon6:c.A45G:p.R15R;ENSG00000049759:ENST00000587190:exon7:c.A45G:p.R15R;ENSG00000049759:ENST00000356462:exon7:c.A408G:p.R136R;ENSG00000049759:ENST00000400345:exon7:c.A408G:p.R136R;ENSG00000049759:ENST00000588494:exon7:c.A45G:p.R15R;ENSG00000049759:ENST00000586263:exon7:c.A384G:p.R128R;ENSG00000049759:ENST00000586268:exon5:c.A45G:p.R15R;	0.00527536398263975	0.122
18	55989716	A	T	18	58322484	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.A384T:p.R128S;NEDD4L:NM_001144964:exon7:c.A45T:p.R15S;NEDD4L:NM_015277:exon7:c.A408T:p.R136S;NEDD4L:NM_001144967:exon7:c.A408T:p.R136S;NEDD4L:NM_001144971:exon8:c.A45T:p.R15S;NEDD4L:NM_001144968:exon7:c.A384T:p.R128S;NEDD4L:NM_001144970:exon6:c.A45T:p.R15S;NEDD4L:NM_001144965:exon7:c.A45T:p.R15S;NEDD4L:NM_001144966:exon6:c.A45T:p.R15S;NEDD4L:NM_001243960:exon7:c.A408T:p.R136S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.A45T:p.R15S;ENSG00000049759:ENST00000382850:exon7:c.A408T:p.R136S;ENSG00000049759:ENST00000456986:exon7:c.A45T:p.R15S;ENSG00000049759:ENST00000256830:exon7:c.A408T:p.R136S;ENSG00000049759:ENST00000456173:exon6:c.A45T:p.R15S;ENSG00000049759:ENST00000357895:exon7:c.A384T:p.R128S;ENSG00000049759:ENST00000256832:exon7:c.A45T:p.R15S;ENSG00000049759:ENST00000431212:exon6:c.A45T:p.R15S;ENSG00000049759:ENST00000587190:exon7:c.A45T:p.R15S;ENSG00000049759:ENST00000356462:exon7:c.A408T:p.R136S;ENSG00000049759:ENST00000400345:exon7:c.A408T:p.R136S;ENSG00000049759:ENST00000588494:exon7:c.A45T:p.R15S;ENSG00000049759:ENST00000586263:exon7:c.A384T:p.R128S;ENSG00000049759:ENST00000586268:exon5:c.A45T:p.R15S;	0.101578239909159	0.466
18	55989717	A	C	18	58322485	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.A385C:p.S129R;NEDD4L:NM_001144964:exon7:c.A46C:p.S16R;NEDD4L:NM_015277:exon7:c.A409C:p.S137R;NEDD4L:NM_001144967:exon7:c.A409C:p.S137R;NEDD4L:NM_001144971:exon8:c.A46C:p.S16R;NEDD4L:NM_001144968:exon7:c.A385C:p.S129R;NEDD4L:NM_001144970:exon6:c.A46C:p.S16R;NEDD4L:NM_001144965:exon7:c.A46C:p.S16R;NEDD4L:NM_001144966:exon6:c.A46C:p.S16R;NEDD4L:NM_001243960:exon7:c.A409C:p.S137R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.A46C:p.S16R;ENSG00000049759:ENST00000382850:exon7:c.A409C:p.S137R;ENSG00000049759:ENST00000456986:exon7:c.A46C:p.S16R;ENSG00000049759:ENST00000256830:exon7:c.A409C:p.S137R;ENSG00000049759:ENST00000456173:exon6:c.A46C:p.S16R;ENSG00000049759:ENST00000357895:exon7:c.A385C:p.S129R;ENSG00000049759:ENST00000256832:exon7:c.A46C:p.S16R;ENSG00000049759:ENST00000431212:exon6:c.A46C:p.S16R;ENSG00000049759:ENST00000356462:exon7:c.A409C:p.S137R;ENSG00000049759:ENST00000400345:exon7:c.A409C:p.S137R;ENSG00000049759:ENST00000588494:exon7:c.A46C:p.S16R;ENSG00000049759:ENST00000586263:exon7:c.A385C:p.S129R;ENSG00000049759:ENST00000586268:exon5:c.A46C:p.S16R;	0.982255249630652	0.936
18	55989717	A	G	18	58322485	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.A385G:p.S129G;NEDD4L:NM_001144964:exon7:c.A46G:p.S16G;NEDD4L:NM_015277:exon7:c.A409G:p.S137G;NEDD4L:NM_001144967:exon7:c.A409G:p.S137G;NEDD4L:NM_001144971:exon8:c.A46G:p.S16G;NEDD4L:NM_001144968:exon7:c.A385G:p.S129G;NEDD4L:NM_001144970:exon6:c.A46G:p.S16G;NEDD4L:NM_001144965:exon7:c.A46G:p.S16G;NEDD4L:NM_001144966:exon6:c.A46G:p.S16G;NEDD4L:NM_001243960:exon7:c.A409G:p.S137G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.A46G:p.S16G;ENSG00000049759:ENST00000382850:exon7:c.A409G:p.S137G;ENSG00000049759:ENST00000456986:exon7:c.A46G:p.S16G;ENSG00000049759:ENST00000256830:exon7:c.A409G:p.S137G;ENSG00000049759:ENST00000456173:exon6:c.A46G:p.S16G;ENSG00000049759:ENST00000357895:exon7:c.A385G:p.S129G;ENSG00000049759:ENST00000256832:exon7:c.A46G:p.S16G;ENSG00000049759:ENST00000431212:exon6:c.A46G:p.S16G;ENSG00000049759:ENST00000356462:exon7:c.A409G:p.S137G;ENSG00000049759:ENST00000400345:exon7:c.A409G:p.S137G;ENSG00000049759:ENST00000588494:exon7:c.A46G:p.S16G;ENSG00000049759:ENST00000586263:exon7:c.A385G:p.S129G;ENSG00000049759:ENST00000586268:exon5:c.A46G:p.S16G;	0.999710953784292	0.998
18	55989717	A	T	18	58322485	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.A385T:p.S129C;NEDD4L:NM_001144964:exon7:c.A46T:p.S16C;NEDD4L:NM_015277:exon7:c.A409T:p.S137C;NEDD4L:NM_001144967:exon7:c.A409T:p.S137C;NEDD4L:NM_001144971:exon8:c.A46T:p.S16C;NEDD4L:NM_001144968:exon7:c.A385T:p.S129C;NEDD4L:NM_001144970:exon6:c.A46T:p.S16C;NEDD4L:NM_001144965:exon7:c.A46T:p.S16C;NEDD4L:NM_001144966:exon6:c.A46T:p.S16C;NEDD4L:NM_001243960:exon7:c.A409T:p.S137C;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.A46T:p.S16C;ENSG00000049759:ENST00000382850:exon7:c.A409T:p.S137C;ENSG00000049759:ENST00000456986:exon7:c.A46T:p.S16C;ENSG00000049759:ENST00000256830:exon7:c.A409T:p.S137C;ENSG00000049759:ENST00000456173:exon6:c.A46T:p.S16C;ENSG00000049759:ENST00000357895:exon7:c.A385T:p.S129C;ENSG00000049759:ENST00000256832:exon7:c.A46T:p.S16C;ENSG00000049759:ENST00000431212:exon6:c.A46T:p.S16C;ENSG00000049759:ENST00000356462:exon7:c.A409T:p.S137C;ENSG00000049759:ENST00000400345:exon7:c.A409T:p.S137C;ENSG00000049759:ENST00000588494:exon7:c.A46T:p.S16C;ENSG00000049759:ENST00000586263:exon7:c.A385T:p.S129C;ENSG00000049759:ENST00000586268:exon5:c.A46T:p.S16C;	0.999513793982838	0.98
18	55989718	G	A	18	58322486	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.G386A:p.S129N;NEDD4L:NM_001144964:exon7:c.G47A:p.S16N;NEDD4L:NM_015277:exon7:c.G410A:p.S137N;NEDD4L:NM_001144967:exon7:c.G410A:p.S137N;NEDD4L:NM_001144971:exon8:c.G47A:p.S16N;NEDD4L:NM_001144968:exon7:c.G386A:p.S129N;NEDD4L:NM_001144970:exon6:c.G47A:p.S16N;NEDD4L:NM_001144965:exon7:c.G47A:p.S16N;NEDD4L:NM_001144966:exon6:c.G47A:p.S16N;NEDD4L:NM_001243960:exon7:c.G410A:p.S137N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.G47A:p.S16N;ENSG00000049759:ENST00000382850:exon7:c.G410A:p.S137N;ENSG00000049759:ENST00000456986:exon7:c.G47A:p.S16N;ENSG00000049759:ENST00000256830:exon7:c.G410A:p.S137N;ENSG00000049759:ENST00000456173:exon6:c.G47A:p.S16N;ENSG00000049759:ENST00000357895:exon7:c.G386A:p.S129N;ENSG00000049759:ENST00000256832:exon7:c.G47A:p.S16N;ENSG00000049759:ENST00000431212:exon6:c.G47A:p.S16N;ENSG00000049759:ENST00000356462:exon7:c.G410A:p.S137N;ENSG00000049759:ENST00000400345:exon7:c.G410A:p.S137N;ENSG00000049759:ENST00000588494:exon7:c.G47A:p.S16N;ENSG00000049759:ENST00000586263:exon7:c.G386A:p.S129N;ENSG00000049759:ENST00000586268:exon5:c.G47A:p.S16N;	0.999825904569476	0.97
18	55989718	G	C	18	58322486	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.G386C:p.S129T;NEDD4L:NM_001144964:exon7:c.G47C:p.S16T;NEDD4L:NM_015277:exon7:c.G410C:p.S137T;NEDD4L:NM_001144967:exon7:c.G410C:p.S137T;NEDD4L:NM_001144971:exon8:c.G47C:p.S16T;NEDD4L:NM_001144968:exon7:c.G386C:p.S129T;NEDD4L:NM_001144970:exon6:c.G47C:p.S16T;NEDD4L:NM_001144965:exon7:c.G47C:p.S16T;NEDD4L:NM_001144966:exon6:c.G47C:p.S16T;NEDD4L:NM_001243960:exon7:c.G410C:p.S137T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.G47C:p.S16T;ENSG00000049759:ENST00000382850:exon7:c.G410C:p.S137T;ENSG00000049759:ENST00000456986:exon7:c.G47C:p.S16T;ENSG00000049759:ENST00000256830:exon7:c.G410C:p.S137T;ENSG00000049759:ENST00000456173:exon6:c.G47C:p.S16T;ENSG00000049759:ENST00000357895:exon7:c.G386C:p.S129T;ENSG00000049759:ENST00000256832:exon7:c.G47C:p.S16T;ENSG00000049759:ENST00000431212:exon6:c.G47C:p.S16T;ENSG00000049759:ENST00000356462:exon7:c.G410C:p.S137T;ENSG00000049759:ENST00000400345:exon7:c.G410C:p.S137T;ENSG00000049759:ENST00000588494:exon7:c.G47C:p.S16T;ENSG00000049759:ENST00000586263:exon7:c.G386C:p.S129T;ENSG00000049759:ENST00000586268:exon5:c.G47C:p.S16T;	0.999972959563885	0.954
18	55989718	G	T	18	58322486	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon7:c.G386T:p.S129I;NEDD4L:NM_001144964:exon7:c.G47T:p.S16I;NEDD4L:NM_015277:exon7:c.G410T:p.S137I;NEDD4L:NM_001144967:exon7:c.G410T:p.S137I;NEDD4L:NM_001144971:exon8:c.G47T:p.S16I;NEDD4L:NM_001144968:exon7:c.G386T:p.S129I;NEDD4L:NM_001144970:exon6:c.G47T:p.S16I;NEDD4L:NM_001144965:exon7:c.G47T:p.S16I;NEDD4L:NM_001144966:exon6:c.G47T:p.S16I;NEDD4L:NM_001243960:exon7:c.G410T:p.S137I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon8:c.G47T:p.S16I;ENSG00000049759:ENST00000382850:exon7:c.G410T:p.S137I;ENSG00000049759:ENST00000456986:exon7:c.G47T:p.S16I;ENSG00000049759:ENST00000256830:exon7:c.G410T:p.S137I;ENSG00000049759:ENST00000456173:exon6:c.G47T:p.S16I;ENSG00000049759:ENST00000357895:exon7:c.G386T:p.S129I;ENSG00000049759:ENST00000256832:exon7:c.G47T:p.S16I;ENSG00000049759:ENST00000431212:exon6:c.G47T:p.S16I;ENSG00000049759:ENST00000356462:exon7:c.G410T:p.S137I;ENSG00000049759:ENST00000400345:exon7:c.G410T:p.S137I;ENSG00000049759:ENST00000588494:exon7:c.G47T:p.S16I;ENSG00000049759:ENST00000586263:exon7:c.G386T:p.S129I;ENSG00000049759:ENST00000586268:exon5:c.G47T:p.S16I;	0.999463573024564	0.964
18	55989719	G	A	18	58322487	y	y	splicing	NEDD4L(NM_001144967:exon7:c.410+1G>A;NM_001243960:exon7:c.410+1G>A;NM_015277:exon7:c.410+1G>A;NM_001144964:exon7:c.47+1G>A;NM_001144968:exon7:c.386+1G>A;NM_001144965:exon7:c.47+1G>A;NM_001144971:exon8:c.47+1G>A;NM_001144969:exon7:c.386+1G>A;NM_001144970:exon6:c.47+1G>A;NM_001144966:exon6:c.47+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.410+1G>A;ENST00000400345:exon7:c.410+1G>A;ENST00000256832:exon7:c.47+1G>A;ENST00000382850:exon7:c.410+1G>A;ENST00000256830:exon7:c.410+1G>A;ENST00000456986:exon7:c.47+1G>A;ENST00000357895:exon7:c.386+1G>A;ENST00000435432:exon8:c.47+1G>A;ENST00000586263:exon7:c.386+1G>A;ENST00000456173:exon6:c.47+1G>A;ENST00000588494:exon7:c.47+1G>A;ENST00000431212:exon6:c.47+1G>A;ENST00000586268:exon5:c.47+1G>A)	.	.	0.999981760802075	0.94
18	55989719	G	C	18	58322487	y	y	splicing	NEDD4L(NM_001144967:exon7:c.410+1G>C;NM_001243960:exon7:c.410+1G>C;NM_015277:exon7:c.410+1G>C;NM_001144964:exon7:c.47+1G>C;NM_001144968:exon7:c.386+1G>C;NM_001144965:exon7:c.47+1G>C;NM_001144971:exon8:c.47+1G>C;NM_001144969:exon7:c.386+1G>C;NM_001144970:exon6:c.47+1G>C;NM_001144966:exon6:c.47+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.410+1G>C;ENST00000400345:exon7:c.410+1G>C;ENST00000256832:exon7:c.47+1G>C;ENST00000382850:exon7:c.410+1G>C;ENST00000256830:exon7:c.410+1G>C;ENST00000456986:exon7:c.47+1G>C;ENST00000357895:exon7:c.386+1G>C;ENST00000435432:exon8:c.47+1G>C;ENST00000586263:exon7:c.386+1G>C;ENST00000456173:exon6:c.47+1G>C;ENST00000588494:exon7:c.47+1G>C;ENST00000431212:exon6:c.47+1G>C;ENST00000586268:exon5:c.47+1G>C)	.	.	0.999981760802075	0.94
18	55989719	G	T	18	58322487	y	y	splicing	NEDD4L(NM_001144967:exon7:c.410+1G>T;NM_001243960:exon7:c.410+1G>T;NM_015277:exon7:c.410+1G>T;NM_001144964:exon7:c.47+1G>T;NM_001144968:exon7:c.386+1G>T;NM_001144965:exon7:c.47+1G>T;NM_001144971:exon8:c.47+1G>T;NM_001144969:exon7:c.386+1G>T;NM_001144970:exon6:c.47+1G>T;NM_001144966:exon6:c.47+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.410+1G>T;ENST00000400345:exon7:c.410+1G>T;ENST00000256832:exon7:c.47+1G>T;ENST00000382850:exon7:c.410+1G>T;ENST00000256830:exon7:c.410+1G>T;ENST00000456986:exon7:c.47+1G>T;ENST00000357895:exon7:c.386+1G>T;ENST00000435432:exon8:c.47+1G>T;ENST00000586263:exon7:c.386+1G>T;ENST00000456173:exon6:c.47+1G>T;ENST00000588494:exon7:c.47+1G>T;ENST00000431212:exon6:c.47+1G>T;ENST00000586268:exon5:c.47+1G>T)	.	.	0.999981760802075	0.94
18	55989720	T	A	18	58322488	y	y	splicing	NEDD4L(NM_001144967:exon7:c.410+2T>A;NM_001243960:exon7:c.410+2T>A;NM_015277:exon7:c.410+2T>A;NM_001144964:exon7:c.47+2T>A;NM_001144968:exon7:c.386+2T>A;NM_001144965:exon7:c.47+2T>A;NM_001144971:exon8:c.47+2T>A;NM_001144969:exon7:c.386+2T>A;NM_001144970:exon6:c.47+2T>A;NM_001144966:exon6:c.47+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.410+2T>A;ENST00000400345:exon7:c.410+2T>A;ENST00000256832:exon7:c.47+2T>A;ENST00000382850:exon7:c.410+2T>A;ENST00000256830:exon7:c.410+2T>A;ENST00000456986:exon7:c.47+2T>A;ENST00000357895:exon7:c.386+2T>A;ENST00000435432:exon8:c.47+2T>A;ENST00000586263:exon7:c.386+2T>A;ENST00000456173:exon6:c.47+2T>A;ENST00000588494:exon7:c.47+2T>A;ENST00000431212:exon6:c.47+2T>A;ENST00000586268:exon5:c.47+2T>A)	.	.	0.999992752818502	0.928
18	55989720	T	C	18	58322488	y	y	splicing	NEDD4L(NM_001144967:exon7:c.410+2T>C;NM_001243960:exon7:c.410+2T>C;NM_015277:exon7:c.410+2T>C;NM_001144964:exon7:c.47+2T>C;NM_001144968:exon7:c.386+2T>C;NM_001144965:exon7:c.47+2T>C;NM_001144971:exon8:c.47+2T>C;NM_001144969:exon7:c.386+2T>C;NM_001144970:exon6:c.47+2T>C;NM_001144966:exon6:c.47+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.410+2T>C;ENST00000400345:exon7:c.410+2T>C;ENST00000256832:exon7:c.47+2T>C;ENST00000382850:exon7:c.410+2T>C;ENST00000256830:exon7:c.410+2T>C;ENST00000456986:exon7:c.47+2T>C;ENST00000357895:exon7:c.386+2T>C;ENST00000435432:exon8:c.47+2T>C;ENST00000586263:exon7:c.386+2T>C;ENST00000456173:exon6:c.47+2T>C;ENST00000588494:exon7:c.47+2T>C;ENST00000431212:exon6:c.47+2T>C;ENST00000586268:exon5:c.47+2T>C)	.	.	0.999929375071544	0.866
18	55989720	T	G	18	58322488	y	y	splicing	NEDD4L(NM_001144967:exon7:c.410+2T>G;NM_001243960:exon7:c.410+2T>G;NM_015277:exon7:c.410+2T>G;NM_001144964:exon7:c.47+2T>G;NM_001144968:exon7:c.386+2T>G;NM_001144965:exon7:c.47+2T>G;NM_001144971:exon8:c.47+2T>G;NM_001144969:exon7:c.386+2T>G;NM_001144970:exon6:c.47+2T>G;NM_001144966:exon6:c.47+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon7:c.410+2T>G;ENST00000400345:exon7:c.410+2T>G;ENST00000256832:exon7:c.47+2T>G;ENST00000382850:exon7:c.410+2T>G;ENST00000256830:exon7:c.410+2T>G;ENST00000456986:exon7:c.47+2T>G;ENST00000357895:exon7:c.386+2T>G;ENST00000435432:exon8:c.47+2T>G;ENST00000586263:exon7:c.386+2T>G;ENST00000456173:exon6:c.47+2T>G;ENST00000588494:exon7:c.47+2T>G;ENST00000431212:exon6:c.47+2T>G;ENST00000586268:exon5:c.47+2T>G)	.	.	0.999992752818502	0.928
18	55989721	G	A	18	58322489	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.52344509406673E-5	0.0
18	55989721	G	C	18	58322489	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.566361644421266	0.624
18	55989721	G	T	18	58322489	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.447802334341652	0.512
18	55989722	A	C	18	58322490	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.992388473503572	0.816
18	55989722	A	G	18	58322490	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998179111075727	0.89
18	55989722	A	T	18	58322490	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998460927773099	0.858
18	55989723	G	A	18	58322491	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.991932670955481	0.872
18	55989723	G	C	18	58322491	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.774755753665234	0.586
18	55989723	G	T	18	58322491	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.994959704283541	0.916
18	55989724	G	A	18	58322492	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.90590862095956E-4	0.016
18	55989724	G	C	18	58322492	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.53585319247006E-4	0.03
18	55989724	G	T	18	58322492	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.29968975195507E-4	0.002
18	55989725	C	A	18	58322493	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.70593451403577E-4	0.01
18	55989725	C	G	18	58322493	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.14874106453679E-4	0.01
18	55989725	C	T	18	58322493	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.97472290255143E-4	0.06
18	55989726	T	A	18	58322494	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.22052569811162E-5	0.0
18	55989726	T	C	18	58322494	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.22052569811162E-5	0.0
18	55989726	T	G	18	58322494	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.05808194911997E-5	0.002
18	55990452	T	A	18	58323220	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0448028341019651	0.498
18	55990452	T	C	18	58323220	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.22201461003027E-5	0.016
18	55990452	T	G	18	58323220	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999424520640535	0.98
18	55990453	T	A	18	58323221	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0964791986087346	0.356
18	55990453	T	C	18	58323221	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.04929882731058E-4	0.054
18	55990453	T	G	18	58323221	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0964791986087346	0.35
18	55990454	A	C	18	58323222	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.29025094193889E-4	0.034
18	55990454	A	G	18	58323222	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.13268986758483E-4	0.02
18	55990454	A	T	18	58323222	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.0880508175172E-4	0.04
18	55990455	T	A	18	58323223	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999889062551658	0.976
18	55990455	T	C	18	58323223	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.57628354783433E-4	0.036
18	55990455	T	G	18	58323223	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999889062551658	0.984
18	55990456	G	A	18	58323224	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.34290365944996E-4	0.068
18	55990456	G	C	18	58323224	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.05997560497962E-4	0.024
18	55990456	G	T	18	58323224	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.06635945492274E-4	0.038
18	55990457	T	A	18	58323225	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.928966127975301	0.406
18	55990457	T	C	18	58323225	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.66815621262231E-5	0.154
18	55990457	T	G	18	58323225	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00172689970510304	0.198
18	55990458	G	A	18	58323226	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.90501148315924E-4	0.14
18	55990458	G	C	18	58323226	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.32186368474212E-5	0.004
18	55990458	G	T	18	58323226	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.67944982512943E-5	0.002
18	55990459	T	A	18	58323227	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999085273483577	0.906
18	55990459	T	C	18	58323227	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.63442469051166E-5	0.074
18	55990459	T	G	18	58323227	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.313954931933864	0.55
18	55990460	G	A	18	58323228	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.14111110148416E-5	0.004
18	55990460	G	C	18	58323228	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.75864471828918E-5	0.034
18	55990460	G	T	18	58323228	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.12848506614225E-5	0.002
18	55990461	C	A	18	58323229	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99506007308559	0.772
18	55990461	C	G	18	58323229	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999096814231787	0.76
18	55990461	C	T	18	58323229	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0101906134735871	0.274
18	55990462	A	C	18	58323230	y	y	splicing	NEDD4L(NM_001144967:exon8:c.411-2A>C;NM_001243960:exon8:c.411-2A>C;NM_015277:exon8:c.411-2A>C;NM_001144964:exon8:c.48-2A>C;NM_001144968:exon8:c.387-2A>C;NM_001144965:exon8:c.48-2A>C;NM_001144971:exon9:c.48-2A>C;NM_001144969:exon8:c.387-2A>C;NM_001144970:exon7:c.48-2A>C;NM_001144966:exon7:c.48-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.411-2A>C;ENST00000400345:exon8:c.411-2A>C;ENST00000256832:exon8:c.48-2A>C;ENST00000382850:exon8:c.411-2A>C;ENST00000256830:exon8:c.411-2A>C;ENST00000456986:exon8:c.48-2A>C;ENST00000357895:exon8:c.387-2A>C;ENST00000435432:exon9:c.48-2A>C;ENST00000586263:exon8:c.387-2A>C;ENST00000456173:exon7:c.48-2A>C;ENST00000588494:exon8:c.48-2A>C;ENST00000431212:exon7:c.48-2A>C;ENST00000586268:exon6:c.48-2A>C)	.	.	0.999971864448174	0.92
18	55990462	A	G	18	58323230	y	y	splicing	NEDD4L(NM_001144967:exon8:c.411-2A>G;NM_001243960:exon8:c.411-2A>G;NM_015277:exon8:c.411-2A>G;NM_001144964:exon8:c.48-2A>G;NM_001144968:exon8:c.387-2A>G;NM_001144965:exon8:c.48-2A>G;NM_001144971:exon9:c.48-2A>G;NM_001144969:exon8:c.387-2A>G;NM_001144970:exon7:c.48-2A>G;NM_001144966:exon7:c.48-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.411-2A>G;ENST00000400345:exon8:c.411-2A>G;ENST00000256832:exon8:c.48-2A>G;ENST00000382850:exon8:c.411-2A>G;ENST00000256830:exon8:c.411-2A>G;ENST00000456986:exon8:c.48-2A>G;ENST00000357895:exon8:c.387-2A>G;ENST00000435432:exon9:c.48-2A>G;ENST00000586263:exon8:c.387-2A>G;ENST00000456173:exon7:c.48-2A>G;ENST00000588494:exon8:c.48-2A>G;ENST00000431212:exon7:c.48-2A>G;ENST00000586268:exon6:c.48-2A>G)	.	.	0.999971864448174	0.92
18	55990462	A	T	18	58323230	y	y	splicing	NEDD4L(NM_001144967:exon8:c.411-2A>T;NM_001243960:exon8:c.411-2A>T;NM_015277:exon8:c.411-2A>T;NM_001144964:exon8:c.48-2A>T;NM_001144968:exon8:c.387-2A>T;NM_001144965:exon8:c.48-2A>T;NM_001144971:exon9:c.48-2A>T;NM_001144969:exon8:c.387-2A>T;NM_001144970:exon7:c.48-2A>T;NM_001144966:exon7:c.48-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.411-2A>T;ENST00000400345:exon8:c.411-2A>T;ENST00000256832:exon8:c.48-2A>T;ENST00000382850:exon8:c.411-2A>T;ENST00000256830:exon8:c.411-2A>T;ENST00000456986:exon8:c.48-2A>T;ENST00000357895:exon8:c.387-2A>T;ENST00000435432:exon9:c.48-2A>T;ENST00000586263:exon8:c.387-2A>T;ENST00000456173:exon7:c.48-2A>T;ENST00000588494:exon8:c.48-2A>T;ENST00000431212:exon7:c.48-2A>T;ENST00000586268:exon6:c.48-2A>T)	.	.	0.999971864448174	0.904
18	55990463	G	A	18	58323231	y	y	splicing	NEDD4L(NM_001144967:exon8:c.411-1G>A;NM_001243960:exon8:c.411-1G>A;NM_015277:exon8:c.411-1G>A;NM_001144964:exon8:c.48-1G>A;NM_001144968:exon8:c.387-1G>A;NM_001144965:exon8:c.48-1G>A;NM_001144971:exon9:c.48-1G>A;NM_001144969:exon8:c.387-1G>A;NM_001144970:exon7:c.48-1G>A;NM_001144966:exon7:c.48-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.411-1G>A;ENST00000400345:exon8:c.411-1G>A;ENST00000256832:exon8:c.48-1G>A;ENST00000382850:exon8:c.411-1G>A;ENST00000256830:exon8:c.411-1G>A;ENST00000456986:exon8:c.48-1G>A;ENST00000357895:exon8:c.387-1G>A;ENST00000435432:exon9:c.48-1G>A;ENST00000586263:exon8:c.387-1G>A;ENST00000456173:exon7:c.48-1G>A;ENST00000588494:exon8:c.48-1G>A;ENST00000431212:exon7:c.48-1G>A;ENST00000586268:exon6:c.48-1G>A)	.	.	0.999951283996796	0.908
18	55990463	G	C	18	58323231	y	y	splicing	NEDD4L(NM_001144967:exon8:c.411-1G>C;NM_001243960:exon8:c.411-1G>C;NM_015277:exon8:c.411-1G>C;NM_001144964:exon8:c.48-1G>C;NM_001144968:exon8:c.387-1G>C;NM_001144965:exon8:c.48-1G>C;NM_001144971:exon9:c.48-1G>C;NM_001144969:exon8:c.387-1G>C;NM_001144970:exon7:c.48-1G>C;NM_001144966:exon7:c.48-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.411-1G>C;ENST00000400345:exon8:c.411-1G>C;ENST00000256832:exon8:c.48-1G>C;ENST00000382850:exon8:c.411-1G>C;ENST00000256830:exon8:c.411-1G>C;ENST00000456986:exon8:c.48-1G>C;ENST00000357895:exon8:c.387-1G>C;ENST00000435432:exon9:c.48-1G>C;ENST00000586263:exon8:c.387-1G>C;ENST00000456173:exon7:c.48-1G>C;ENST00000588494:exon8:c.48-1G>C;ENST00000431212:exon7:c.48-1G>C;ENST00000586268:exon6:c.48-1G>C)	.	.	0.999937341878964	0.904
18	55990463	G	T	18	58323231	y	y	splicing	NEDD4L(NM_001144967:exon8:c.411-1G>T;NM_001243960:exon8:c.411-1G>T;NM_015277:exon8:c.411-1G>T;NM_001144964:exon8:c.48-1G>T;NM_001144968:exon8:c.387-1G>T;NM_001144965:exon8:c.48-1G>T;NM_001144971:exon9:c.48-1G>T;NM_001144969:exon8:c.387-1G>T;NM_001144970:exon7:c.48-1G>T;NM_001144966:exon7:c.48-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.411-1G>T;ENST00000400345:exon8:c.411-1G>T;ENST00000256832:exon8:c.48-1G>T;ENST00000382850:exon8:c.411-1G>T;ENST00000256830:exon8:c.411-1G>T;ENST00000456986:exon8:c.48-1G>T;ENST00000357895:exon8:c.387-1G>T;ENST00000435432:exon9:c.48-1G>T;ENST00000586263:exon8:c.387-1G>T;ENST00000456173:exon7:c.48-1G>T;ENST00000588494:exon8:c.48-1G>T;ENST00000431212:exon7:c.48-1G>T;ENST00000586268:exon6:c.48-1G>T)	.	.	0.999937341878964	0.906
18	55990464	T	A	18	58323232	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.T387A:p.S129R;NEDD4L:NM_001144964:exon8:c.T48A:p.S16R;NEDD4L:NM_015277:exon8:c.T411A:p.S137R;NEDD4L:NM_001144967:exon8:c.T411A:p.S137R;NEDD4L:NM_001144971:exon9:c.T48A:p.S16R;NEDD4L:NM_001144968:exon8:c.T387A:p.S129R;NEDD4L:NM_001144970:exon7:c.T48A:p.S16R;NEDD4L:NM_001144965:exon8:c.T48A:p.S16R;NEDD4L:NM_001144966:exon7:c.T48A:p.S16R;NEDD4L:NM_001243960:exon8:c.T411A:p.S137R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon9:c.T48A:p.S16R;ENSG00000049759:ENST00000382850:exon8:c.T411A:p.S137R;ENSG00000049759:ENST00000456986:exon8:c.T48A:p.S16R;ENSG00000049759:ENST00000256830:exon8:c.T411A:p.S137R;ENSG00000049759:ENST00000456173:exon7:c.T48A:p.S16R;ENSG00000049759:ENST00000357895:exon8:c.T387A:p.S129R;ENSG00000049759:ENST00000256832:exon8:c.T48A:p.S16R;ENSG00000049759:ENST00000431212:exon7:c.T48A:p.S16R;ENSG00000049759:ENST00000356462:exon8:c.T411A:p.S137R;ENSG00000049759:ENST00000400345:exon8:c.T411A:p.S137R;ENSG00000049759:ENST00000588494:exon8:c.T48A:p.S16R;ENSG00000049759:ENST00000586263:exon8:c.T387A:p.S129R;ENSG00000049759:ENST00000586268:exon6:c.T48A:p.S16R;	2.82811653028129E-5	0.004
18	55990464	T	C	18	58323232	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon8:c.T387C:p.S129S;NEDD4L:NM_001144964:exon8:c.T48C:p.S16S;NEDD4L:NM_015277:exon8:c.T411C:p.S137S;NEDD4L:NM_001144967:exon8:c.T411C:p.S137S;NEDD4L:NM_001144971:exon9:c.T48C:p.S16S;NEDD4L:NM_001144968:exon8:c.T387C:p.S129S;NEDD4L:NM_001144970:exon7:c.T48C:p.S16S;NEDD4L:NM_001144965:exon8:c.T48C:p.S16S;NEDD4L:NM_001144966:exon7:c.T48C:p.S16S;NEDD4L:NM_001243960:exon8:c.T411C:p.S137S;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000435432:exon9:c.T48C:p.S16S;ENSG00000049759:ENST00000382850:exon8:c.T411C:p.S137S;ENSG00000049759:ENST00000456986:exon8:c.T48C:p.S16S;ENSG00000049759:ENST00000256830:exon8:c.T411C:p.S137S;ENSG00000049759:ENST00000456173:exon7:c.T48C:p.S16S;ENSG00000049759:ENST00000357895:exon8:c.T387C:p.S129S;ENSG00000049759:ENST00000256832:exon8:c.T48C:p.S16S;ENSG00000049759:ENST00000431212:exon7:c.T48C:p.S16S;ENSG00000049759:ENST00000356462:exon8:c.T411C:p.S137S;ENSG00000049759:ENST00000400345:exon8:c.T411C:p.S137S;ENSG00000049759:ENST00000588494:exon8:c.T48C:p.S16S;ENSG00000049759:ENST00000586263:exon8:c.T387C:p.S129S;ENSG00000049759:ENST00000586268:exon6:c.T48C:p.S16S;	5.82150686325639E-5	0.046
18	55990464	T	G	18	58323232	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.T387G:p.S129R;NEDD4L:NM_001144964:exon8:c.T48G:p.S16R;NEDD4L:NM_015277:exon8:c.T411G:p.S137R;NEDD4L:NM_001144967:exon8:c.T411G:p.S137R;NEDD4L:NM_001144971:exon9:c.T48G:p.S16R;NEDD4L:NM_001144968:exon8:c.T387G:p.S129R;NEDD4L:NM_001144970:exon7:c.T48G:p.S16R;NEDD4L:NM_001144965:exon8:c.T48G:p.S16R;NEDD4L:NM_001144966:exon7:c.T48G:p.S16R;NEDD4L:NM_001243960:exon8:c.T411G:p.S137R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon9:c.T48G:p.S16R;ENSG00000049759:ENST00000382850:exon8:c.T411G:p.S137R;ENSG00000049759:ENST00000456986:exon8:c.T48G:p.S16R;ENSG00000049759:ENST00000256830:exon8:c.T411G:p.S137R;ENSG00000049759:ENST00000456173:exon7:c.T48G:p.S16R;ENSG00000049759:ENST00000357895:exon8:c.T387G:p.S129R;ENSG00000049759:ENST00000256832:exon8:c.T48G:p.S16R;ENSG00000049759:ENST00000431212:exon7:c.T48G:p.S16R;ENSG00000049759:ENST00000356462:exon8:c.T411G:p.S137R;ENSG00000049759:ENST00000400345:exon8:c.T411G:p.S137R;ENSG00000049759:ENST00000588494:exon8:c.T48G:p.S16R;ENSG00000049759:ENST00000586263:exon8:c.T387G:p.S129R;ENSG00000049759:ENST00000586268:exon6:c.T48G:p.S16R;	1.39883492452101E-4	0.068
18	55990465	C	A	18	58323233	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.C388A:p.H130N;NEDD4L:NM_001144964:exon8:c.C49A:p.H17N;NEDD4L:NM_015277:exon8:c.C412A:p.H138N;NEDD4L:NM_001144967:exon8:c.C412A:p.H138N;NEDD4L:NM_001144971:exon9:c.C49A:p.H17N;NEDD4L:NM_001144968:exon8:c.C388A:p.H130N;NEDD4L:NM_001144970:exon7:c.C49A:p.H17N;NEDD4L:NM_001144965:exon8:c.C49A:p.H17N;NEDD4L:NM_001144966:exon7:c.C49A:p.H17N;NEDD4L:NM_001243960:exon8:c.C412A:p.H138N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon9:c.C49A:p.H17N;ENSG00000049759:ENST00000382850:exon8:c.C412A:p.H138N;ENSG00000049759:ENST00000456986:exon8:c.C49A:p.H17N;ENSG00000049759:ENST00000256830:exon8:c.C412A:p.H138N;ENSG00000049759:ENST00000456173:exon7:c.C49A:p.H17N;ENSG00000049759:ENST00000357895:exon8:c.C388A:p.H130N;ENSG00000049759:ENST00000256832:exon8:c.C49A:p.H17N;ENSG00000049759:ENST00000431212:exon7:c.C49A:p.H17N;ENSG00000049759:ENST00000356462:exon8:c.C412A:p.H138N;ENSG00000049759:ENST00000400345:exon8:c.C412A:p.H138N;ENSG00000049759:ENST00000588494:exon8:c.C49A:p.H17N;ENSG00000049759:ENST00000586263:exon8:c.C388A:p.H130N;ENSG00000049759:ENST00000586268:exon6:c.C49A:p.H17N;	9.01618615752998E-4	0.058
18	55990465	C	G	18	58323233	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.C388G:p.H130D;NEDD4L:NM_001144964:exon8:c.C49G:p.H17D;NEDD4L:NM_015277:exon8:c.C412G:p.H138D;NEDD4L:NM_001144967:exon8:c.C412G:p.H138D;NEDD4L:NM_001144971:exon9:c.C49G:p.H17D;NEDD4L:NM_001144968:exon8:c.C388G:p.H130D;NEDD4L:NM_001144970:exon7:c.C49G:p.H17D;NEDD4L:NM_001144965:exon8:c.C49G:p.H17D;NEDD4L:NM_001144966:exon7:c.C49G:p.H17D;NEDD4L:NM_001243960:exon8:c.C412G:p.H138D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon9:c.C49G:p.H17D;ENSG00000049759:ENST00000382850:exon8:c.C412G:p.H138D;ENSG00000049759:ENST00000456986:exon8:c.C49G:p.H17D;ENSG00000049759:ENST00000256830:exon8:c.C412G:p.H138D;ENSG00000049759:ENST00000456173:exon7:c.C49G:p.H17D;ENSG00000049759:ENST00000357895:exon8:c.C388G:p.H130D;ENSG00000049759:ENST00000256832:exon8:c.C49G:p.H17D;ENSG00000049759:ENST00000431212:exon7:c.C49G:p.H17D;ENSG00000049759:ENST00000356462:exon8:c.C412G:p.H138D;ENSG00000049759:ENST00000400345:exon8:c.C412G:p.H138D;ENSG00000049759:ENST00000588494:exon8:c.C49G:p.H17D;ENSG00000049759:ENST00000586263:exon8:c.C388G:p.H130D;ENSG00000049759:ENST00000586268:exon6:c.C49G:p.H17D;	6.0039651477367E-4	0.03
18	55990465	C	T	18	58323233	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.C388T:p.H130Y;NEDD4L:NM_001144964:exon8:c.C49T:p.H17Y;NEDD4L:NM_015277:exon8:c.C412T:p.H138Y;NEDD4L:NM_001144967:exon8:c.C412T:p.H138Y;NEDD4L:NM_001144971:exon9:c.C49T:p.H17Y;NEDD4L:NM_001144968:exon8:c.C388T:p.H130Y;NEDD4L:NM_001144970:exon7:c.C49T:p.H17Y;NEDD4L:NM_001144965:exon8:c.C49T:p.H17Y;NEDD4L:NM_001144966:exon7:c.C49T:p.H17Y;NEDD4L:NM_001243960:exon8:c.C412T:p.H138Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon9:c.C49T:p.H17Y;ENSG00000049759:ENST00000382850:exon8:c.C412T:p.H138Y;ENSG00000049759:ENST00000456986:exon8:c.C49T:p.H17Y;ENSG00000049759:ENST00000256830:exon8:c.C412T:p.H138Y;ENSG00000049759:ENST00000456173:exon7:c.C49T:p.H17Y;ENSG00000049759:ENST00000357895:exon8:c.C388T:p.H130Y;ENSG00000049759:ENST00000256832:exon8:c.C49T:p.H17Y;ENSG00000049759:ENST00000431212:exon7:c.C49T:p.H17Y;ENSG00000049759:ENST00000356462:exon8:c.C412T:p.H138Y;ENSG00000049759:ENST00000400345:exon8:c.C412T:p.H138Y;ENSG00000049759:ENST00000588494:exon8:c.C49T:p.H17Y;ENSG00000049759:ENST00000586263:exon8:c.C388T:p.H130Y;ENSG00000049759:ENST00000586268:exon6:c.C49T:p.H17Y;	0.00748774488737983	0.196
18	55990564	G	A	18	58323332	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.G487A:p.E163K;NEDD4L:NM_001144964:exon8:c.G148A:p.E50K;NEDD4L:NM_015277:exon8:c.G511A:p.E171K;NEDD4L:NM_001144967:exon8:c.G511A:p.E171K;NEDD4L:NM_001144971:exon9:c.G148A:p.E50K;NEDD4L:NM_001144968:exon8:c.G487A:p.E163K;NEDD4L:NM_001144970:exon7:c.G148A:p.E50K;NEDD4L:NM_001144965:exon8:c.G148A:p.E50K;NEDD4L:NM_001144966:exon7:c.G148A:p.E50K;NEDD4L:NM_001243960:exon8:c.G511A:p.E171K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon1:c.G13A:p.E5K;ENSG00000049759:ENST00000435432:exon9:c.G148A:p.E50K;ENSG00000049759:ENST00000382850:exon8:c.G511A:p.E171K;ENSG00000049759:ENST00000456986:exon8:c.G148A:p.E50K;ENSG00000049759:ENST00000256830:exon8:c.G511A:p.E171K;ENSG00000049759:ENST00000456173:exon7:c.G148A:p.E50K;ENSG00000049759:ENST00000357895:exon8:c.G487A:p.E163K;ENSG00000049759:ENST00000256832:exon8:c.G148A:p.E50K;ENSG00000049759:ENST00000431212:exon7:c.G148A:p.E50K;ENSG00000049759:ENST00000356462:exon8:c.G511A:p.E171K;ENSG00000049759:ENST00000400345:exon8:c.G511A:p.E171K;ENSG00000049759:ENST00000586263:exon8:c.G487A:p.E163K;ENSG00000049759:ENST00000586268:exon6:c.G148A:p.E50K;	0.139428138757557	0.466
18	55990564	G	C	18	58323332	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.G487C:p.E163Q;NEDD4L:NM_001144964:exon8:c.G148C:p.E50Q;NEDD4L:NM_015277:exon8:c.G511C:p.E171Q;NEDD4L:NM_001144967:exon8:c.G511C:p.E171Q;NEDD4L:NM_001144971:exon9:c.G148C:p.E50Q;NEDD4L:NM_001144968:exon8:c.G487C:p.E163Q;NEDD4L:NM_001144970:exon7:c.G148C:p.E50Q;NEDD4L:NM_001144965:exon8:c.G148C:p.E50Q;NEDD4L:NM_001144966:exon7:c.G148C:p.E50Q;NEDD4L:NM_001243960:exon8:c.G511C:p.E171Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon1:c.G13C:p.E5Q;ENSG00000049759:ENST00000435432:exon9:c.G148C:p.E50Q;ENSG00000049759:ENST00000382850:exon8:c.G511C:p.E171Q;ENSG00000049759:ENST00000456986:exon8:c.G148C:p.E50Q;ENSG00000049759:ENST00000256830:exon8:c.G511C:p.E171Q;ENSG00000049759:ENST00000456173:exon7:c.G148C:p.E50Q;ENSG00000049759:ENST00000357895:exon8:c.G487C:p.E163Q;ENSG00000049759:ENST00000256832:exon8:c.G148C:p.E50Q;ENSG00000049759:ENST00000431212:exon7:c.G148C:p.E50Q;ENSG00000049759:ENST00000356462:exon8:c.G511C:p.E171Q;ENSG00000049759:ENST00000400345:exon8:c.G511C:p.E171Q;ENSG00000049759:ENST00000586263:exon8:c.G487C:p.E163Q;ENSG00000049759:ENST00000586268:exon6:c.G148C:p.E50Q;	0.00304681373576258	0.034
18	55990564	G	T	18	58323332	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon8:c.G487T:p.E163X;NEDD4L:NM_001144964:exon8:c.G148T:p.E50X;NEDD4L:NM_015277:exon8:c.G511T:p.E171X;NEDD4L:NM_001144967:exon8:c.G511T:p.E171X;NEDD4L:NM_001144971:exon9:c.G148T:p.E50X;NEDD4L:NM_001144968:exon8:c.G487T:p.E163X;NEDD4L:NM_001144970:exon7:c.G148T:p.E50X;NEDD4L:NM_001144965:exon8:c.G148T:p.E50X;NEDD4L:NM_001144966:exon7:c.G148T:p.E50X;NEDD4L:NM_001243960:exon8:c.G511T:p.E171X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon1:c.G13T:p.E5X;ENSG00000049759:ENST00000435432:exon9:c.G148T:p.E50X;ENSG00000049759:ENST00000382850:exon8:c.G511T:p.E171X;ENSG00000049759:ENST00000456986:exon8:c.G148T:p.E50X;ENSG00000049759:ENST00000256830:exon8:c.G511T:p.E171X;ENSG00000049759:ENST00000456173:exon7:c.G148T:p.E50X;ENSG00000049759:ENST00000357895:exon8:c.G487T:p.E163X;ENSG00000049759:ENST00000256832:exon8:c.G148T:p.E50X;ENSG00000049759:ENST00000431212:exon7:c.G148T:p.E50X;ENSG00000049759:ENST00000356462:exon8:c.G511T:p.E171X;ENSG00000049759:ENST00000400345:exon8:c.G511T:p.E171X;ENSG00000049759:ENST00000586263:exon8:c.G487T:p.E163X;ENSG00000049759:ENST00000586268:exon6:c.G148T:p.E50X;	0.870899214970685	0.842
18	55990565	A	C	18	58323333	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.A488C:p.E163A;NEDD4L:NM_001144964:exon8:c.A149C:p.E50A;NEDD4L:NM_015277:exon8:c.A512C:p.E171A;NEDD4L:NM_001144967:exon8:c.A512C:p.E171A;NEDD4L:NM_001144971:exon9:c.A149C:p.E50A;NEDD4L:NM_001144968:exon8:c.A488C:p.E163A;NEDD4L:NM_001144970:exon7:c.A149C:p.E50A;NEDD4L:NM_001144965:exon8:c.A149C:p.E50A;NEDD4L:NM_001144966:exon7:c.A149C:p.E50A;NEDD4L:NM_001243960:exon8:c.A512C:p.E171A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon1:c.A14C:p.E5A;ENSG00000049759:ENST00000435432:exon9:c.A149C:p.E50A;ENSG00000049759:ENST00000382850:exon8:c.A512C:p.E171A;ENSG00000049759:ENST00000456986:exon8:c.A149C:p.E50A;ENSG00000049759:ENST00000256830:exon8:c.A512C:p.E171A;ENSG00000049759:ENST00000456173:exon7:c.A149C:p.E50A;ENSG00000049759:ENST00000357895:exon8:c.A488C:p.E163A;ENSG00000049759:ENST00000256832:exon8:c.A149C:p.E50A;ENSG00000049759:ENST00000431212:exon7:c.A149C:p.E50A;ENSG00000049759:ENST00000356462:exon8:c.A512C:p.E171A;ENSG00000049759:ENST00000400345:exon8:c.A512C:p.E171A;ENSG00000049759:ENST00000586263:exon8:c.A488C:p.E163A;ENSG00000049759:ENST00000586268:exon6:c.A149C:p.E50A;	0.853379669009504	0.738
18	55990565	A	G	18	58323333	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.A488G:p.E163G;NEDD4L:NM_001144964:exon8:c.A149G:p.E50G;NEDD4L:NM_015277:exon8:c.A512G:p.E171G;NEDD4L:NM_001144967:exon8:c.A512G:p.E171G;NEDD4L:NM_001144971:exon9:c.A149G:p.E50G;NEDD4L:NM_001144968:exon8:c.A488G:p.E163G;NEDD4L:NM_001144970:exon7:c.A149G:p.E50G;NEDD4L:NM_001144965:exon8:c.A149G:p.E50G;NEDD4L:NM_001144966:exon7:c.A149G:p.E50G;NEDD4L:NM_001243960:exon8:c.A512G:p.E171G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon1:c.A14G:p.E5G;ENSG00000049759:ENST00000435432:exon9:c.A149G:p.E50G;ENSG00000049759:ENST00000382850:exon8:c.A512G:p.E171G;ENSG00000049759:ENST00000456986:exon8:c.A149G:p.E50G;ENSG00000049759:ENST00000256830:exon8:c.A512G:p.E171G;ENSG00000049759:ENST00000456173:exon7:c.A149G:p.E50G;ENSG00000049759:ENST00000357895:exon8:c.A488G:p.E163G;ENSG00000049759:ENST00000256832:exon8:c.A149G:p.E50G;ENSG00000049759:ENST00000431212:exon7:c.A149G:p.E50G;ENSG00000049759:ENST00000356462:exon8:c.A512G:p.E171G;ENSG00000049759:ENST00000400345:exon8:c.A512G:p.E171G;ENSG00000049759:ENST00000586263:exon8:c.A488G:p.E163G;ENSG00000049759:ENST00000586268:exon6:c.A149G:p.E50G;	0.993840939353062	0.958
18	55990565	A	T	18	58323333	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.A488T:p.E163V;NEDD4L:NM_001144964:exon8:c.A149T:p.E50V;NEDD4L:NM_015277:exon8:c.A512T:p.E171V;NEDD4L:NM_001144967:exon8:c.A512T:p.E171V;NEDD4L:NM_001144971:exon9:c.A149T:p.E50V;NEDD4L:NM_001144968:exon8:c.A488T:p.E163V;NEDD4L:NM_001144970:exon7:c.A149T:p.E50V;NEDD4L:NM_001144965:exon8:c.A149T:p.E50V;NEDD4L:NM_001144966:exon7:c.A149T:p.E50V;NEDD4L:NM_001243960:exon8:c.A512T:p.E171V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon1:c.A14T:p.E5V;ENSG00000049759:ENST00000435432:exon9:c.A149T:p.E50V;ENSG00000049759:ENST00000382850:exon8:c.A512T:p.E171V;ENSG00000049759:ENST00000456986:exon8:c.A149T:p.E50V;ENSG00000049759:ENST00000256830:exon8:c.A512T:p.E171V;ENSG00000049759:ENST00000456173:exon7:c.A149T:p.E50V;ENSG00000049759:ENST00000357895:exon8:c.A488T:p.E163V;ENSG00000049759:ENST00000256832:exon8:c.A149T:p.E50V;ENSG00000049759:ENST00000431212:exon7:c.A149T:p.E50V;ENSG00000049759:ENST00000356462:exon8:c.A512T:p.E171V;ENSG00000049759:ENST00000400345:exon8:c.A512T:p.E171V;ENSG00000049759:ENST00000586263:exon8:c.A488T:p.E163V;ENSG00000049759:ENST00000586268:exon6:c.A149T:p.E50V;	0.999306850544547	0.976
18	55990566	G	A	18	58323334	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon8:c.G489A:p.E163E;NEDD4L:NM_001144964:exon8:c.G150A:p.E50E;NEDD4L:NM_015277:exon8:c.G513A:p.E171E;NEDD4L:NM_001144967:exon8:c.G513A:p.E171E;NEDD4L:NM_001144971:exon9:c.G150A:p.E50E;NEDD4L:NM_001144968:exon8:c.G489A:p.E163E;NEDD4L:NM_001144970:exon7:c.G150A:p.E50E;NEDD4L:NM_001144965:exon8:c.G150A:p.E50E;NEDD4L:NM_001144966:exon7:c.G150A:p.E50E;NEDD4L:NM_001243960:exon8:c.G513A:p.E171E;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon1:c.G15A:p.E5E;ENSG00000049759:ENST00000435432:exon9:c.G150A:p.E50E;ENSG00000049759:ENST00000382850:exon8:c.G513A:p.E171E;ENSG00000049759:ENST00000456986:exon8:c.G150A:p.E50E;ENSG00000049759:ENST00000256830:exon8:c.G513A:p.E171E;ENSG00000049759:ENST00000456173:exon7:c.G150A:p.E50E;ENSG00000049759:ENST00000357895:exon8:c.G489A:p.E163E;ENSG00000049759:ENST00000256832:exon8:c.G150A:p.E50E;ENSG00000049759:ENST00000431212:exon7:c.G150A:p.E50E;ENSG00000049759:ENST00000356462:exon8:c.G513A:p.E171E;ENSG00000049759:ENST00000400345:exon8:c.G513A:p.E171E;ENSG00000049759:ENST00000586263:exon8:c.G489A:p.E163E;ENSG00000049759:ENST00000586268:exon6:c.G150A:p.E50E;	0.873716611413376	0.644
18	55990566	G	C	18	58323334	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.G489C:p.E163D;NEDD4L:NM_001144964:exon8:c.G150C:p.E50D;NEDD4L:NM_015277:exon8:c.G513C:p.E171D;NEDD4L:NM_001144967:exon8:c.G513C:p.E171D;NEDD4L:NM_001144971:exon9:c.G150C:p.E50D;NEDD4L:NM_001144968:exon8:c.G489C:p.E163D;NEDD4L:NM_001144970:exon7:c.G150C:p.E50D;NEDD4L:NM_001144965:exon8:c.G150C:p.E50D;NEDD4L:NM_001144966:exon7:c.G150C:p.E50D;NEDD4L:NM_001243960:exon8:c.G513C:p.E171D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon1:c.G15C:p.E5D;ENSG00000049759:ENST00000435432:exon9:c.G150C:p.E50D;ENSG00000049759:ENST00000382850:exon8:c.G513C:p.E171D;ENSG00000049759:ENST00000456986:exon8:c.G150C:p.E50D;ENSG00000049759:ENST00000256830:exon8:c.G513C:p.E171D;ENSG00000049759:ENST00000456173:exon7:c.G150C:p.E50D;ENSG00000049759:ENST00000357895:exon8:c.G489C:p.E163D;ENSG00000049759:ENST00000256832:exon8:c.G150C:p.E50D;ENSG00000049759:ENST00000431212:exon7:c.G150C:p.E50D;ENSG00000049759:ENST00000356462:exon8:c.G513C:p.E171D;ENSG00000049759:ENST00000400345:exon8:c.G513C:p.E171D;ENSG00000049759:ENST00000586263:exon8:c.G489C:p.E163D;ENSG00000049759:ENST00000586268:exon6:c.G150C:p.E50D;	0.999244962148733	0.828
18	55990566	G	T	18	58323334	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon8:c.G489T:p.E163D;NEDD4L:NM_001144964:exon8:c.G150T:p.E50D;NEDD4L:NM_015277:exon8:c.G513T:p.E171D;NEDD4L:NM_001144967:exon8:c.G513T:p.E171D;NEDD4L:NM_001144971:exon9:c.G150T:p.E50D;NEDD4L:NM_001144968:exon8:c.G489T:p.E163D;NEDD4L:NM_001144970:exon7:c.G150T:p.E50D;NEDD4L:NM_001144965:exon8:c.G150T:p.E50D;NEDD4L:NM_001144966:exon7:c.G150T:p.E50D;NEDD4L:NM_001243960:exon8:c.G513T:p.E171D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon1:c.G15T:p.E5D;ENSG00000049759:ENST00000435432:exon9:c.G150T:p.E50D;ENSG00000049759:ENST00000382850:exon8:c.G513T:p.E171D;ENSG00000049759:ENST00000456986:exon8:c.G150T:p.E50D;ENSG00000049759:ENST00000256830:exon8:c.G513T:p.E171D;ENSG00000049759:ENST00000456173:exon7:c.G150T:p.E50D;ENSG00000049759:ENST00000357895:exon8:c.G489T:p.E163D;ENSG00000049759:ENST00000256832:exon8:c.G150T:p.E50D;ENSG00000049759:ENST00000431212:exon7:c.G150T:p.E50D;ENSG00000049759:ENST00000356462:exon8:c.G513T:p.E171D;ENSG00000049759:ENST00000400345:exon8:c.G513T:p.E171D;ENSG00000049759:ENST00000586263:exon8:c.G489T:p.E163D;ENSG00000049759:ENST00000586268:exon6:c.G150T:p.E50D;	0.999694062451049	0.992
18	55990567	G	A	18	58323335	y	y	splicing	NEDD4L(NM_001144967:exon8:c.513+1G>A;NM_001243960:exon8:c.513+1G>A;NM_015277:exon8:c.513+1G>A;NM_001144964:exon8:c.150+1G>A;NM_001144968:exon8:c.489+1G>A;NM_001144965:exon8:c.150+1G>A;NM_001144971:exon9:c.150+1G>A;NM_001144969:exon8:c.489+1G>A;NM_001144970:exon7:c.150+1G>A;NM_001144966:exon7:c.150+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.513+1G>A;ENST00000400345:exon8:c.513+1G>A;ENST00000256832:exon8:c.150+1G>A;ENST00000382850:exon8:c.513+1G>A;ENST00000256830:exon8:c.513+1G>A;ENST00000456986:exon8:c.150+1G>A;ENST00000357895:exon8:c.489+1G>A;ENST00000435432:exon9:c.150+1G>A;ENST00000586263:exon8:c.489+1G>A;ENST00000456173:exon7:c.150+1G>A;ENST00000431212:exon7:c.150+1G>A;ENST00000586268:exon6:c.150+1G>A;ENST00000587881:exon1:c.15+1G>A)	.	.	0.999915710762489	0.946
18	55990567	G	C	18	58323335	y	y	splicing	NEDD4L(NM_001144967:exon8:c.513+1G>C;NM_001243960:exon8:c.513+1G>C;NM_015277:exon8:c.513+1G>C;NM_001144964:exon8:c.150+1G>C;NM_001144968:exon8:c.489+1G>C;NM_001144965:exon8:c.150+1G>C;NM_001144971:exon9:c.150+1G>C;NM_001144969:exon8:c.489+1G>C;NM_001144970:exon7:c.150+1G>C;NM_001144966:exon7:c.150+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.513+1G>C;ENST00000400345:exon8:c.513+1G>C;ENST00000256832:exon8:c.150+1G>C;ENST00000382850:exon8:c.513+1G>C;ENST00000256830:exon8:c.513+1G>C;ENST00000456986:exon8:c.150+1G>C;ENST00000357895:exon8:c.489+1G>C;ENST00000435432:exon9:c.150+1G>C;ENST00000586263:exon8:c.489+1G>C;ENST00000456173:exon7:c.150+1G>C;ENST00000431212:exon7:c.150+1G>C;ENST00000586268:exon6:c.150+1G>C;ENST00000587881:exon1:c.15+1G>C)	.	.	0.999915710762489	0.95
18	55990567	G	T	18	58323335	y	y	splicing	NEDD4L(NM_001144967:exon8:c.513+1G>T;NM_001243960:exon8:c.513+1G>T;NM_015277:exon8:c.513+1G>T;NM_001144964:exon8:c.150+1G>T;NM_001144968:exon8:c.489+1G>T;NM_001144965:exon8:c.150+1G>T;NM_001144971:exon9:c.150+1G>T;NM_001144969:exon8:c.489+1G>T;NM_001144970:exon7:c.150+1G>T;NM_001144966:exon7:c.150+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.513+1G>T;ENST00000400345:exon8:c.513+1G>T;ENST00000256832:exon8:c.150+1G>T;ENST00000382850:exon8:c.513+1G>T;ENST00000256830:exon8:c.513+1G>T;ENST00000456986:exon8:c.150+1G>T;ENST00000357895:exon8:c.489+1G>T;ENST00000435432:exon9:c.150+1G>T;ENST00000586263:exon8:c.489+1G>T;ENST00000456173:exon7:c.150+1G>T;ENST00000431212:exon7:c.150+1G>T;ENST00000586268:exon6:c.150+1G>T;ENST00000587881:exon1:c.15+1G>T)	.	.	0.999915710762489	0.946
18	55990568	T	A	18	58323336	y	y	splicing	NEDD4L(NM_001144967:exon8:c.513+2T>A;NM_001243960:exon8:c.513+2T>A;NM_015277:exon8:c.513+2T>A;NM_001144964:exon8:c.150+2T>A;NM_001144968:exon8:c.489+2T>A;NM_001144965:exon8:c.150+2T>A;NM_001144971:exon9:c.150+2T>A;NM_001144969:exon8:c.489+2T>A;NM_001144970:exon7:c.150+2T>A;NM_001144966:exon7:c.150+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.513+2T>A;ENST00000400345:exon8:c.513+2T>A;ENST00000256832:exon8:c.150+2T>A;ENST00000382850:exon8:c.513+2T>A;ENST00000256830:exon8:c.513+2T>A;ENST00000456986:exon8:c.150+2T>A;ENST00000357895:exon8:c.489+2T>A;ENST00000435432:exon9:c.150+2T>A;ENST00000586263:exon8:c.489+2T>A;ENST00000456173:exon7:c.150+2T>A;ENST00000431212:exon7:c.150+2T>A;ENST00000586268:exon6:c.150+2T>A;ENST00000587881:exon1:c.15+2T>A)	.	.	0.999966514958823	0.944
18	55990568	T	C	18	58323336	y	y	splicing	NEDD4L(NM_001144967:exon8:c.513+2T>C;NM_001243960:exon8:c.513+2T>C;NM_015277:exon8:c.513+2T>C;NM_001144964:exon8:c.150+2T>C;NM_001144968:exon8:c.489+2T>C;NM_001144965:exon8:c.150+2T>C;NM_001144971:exon9:c.150+2T>C;NM_001144969:exon8:c.489+2T>C;NM_001144970:exon7:c.150+2T>C;NM_001144966:exon7:c.150+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.513+2T>C;ENST00000400345:exon8:c.513+2T>C;ENST00000256832:exon8:c.150+2T>C;ENST00000382850:exon8:c.513+2T>C;ENST00000256830:exon8:c.513+2T>C;ENST00000456986:exon8:c.150+2T>C;ENST00000357895:exon8:c.489+2T>C;ENST00000435432:exon9:c.150+2T>C;ENST00000586263:exon8:c.489+2T>C;ENST00000456173:exon7:c.150+2T>C;ENST00000431212:exon7:c.150+2T>C;ENST00000586268:exon6:c.150+2T>C;ENST00000587881:exon1:c.15+2T>C)	.	.	0.964856879974847	0.608
18	55990568	T	G	18	58323336	y	y	splicing	NEDD4L(NM_001144967:exon8:c.513+2T>G;NM_001243960:exon8:c.513+2T>G;NM_015277:exon8:c.513+2T>G;NM_001144964:exon8:c.150+2T>G;NM_001144968:exon8:c.489+2T>G;NM_001144965:exon8:c.150+2T>G;NM_001144971:exon9:c.150+2T>G;NM_001144969:exon8:c.489+2T>G;NM_001144970:exon7:c.150+2T>G;NM_001144966:exon7:c.150+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon8:c.513+2T>G;ENST00000400345:exon8:c.513+2T>G;ENST00000256832:exon8:c.150+2T>G;ENST00000382850:exon8:c.513+2T>G;ENST00000256830:exon8:c.513+2T>G;ENST00000456986:exon8:c.150+2T>G;ENST00000357895:exon8:c.489+2T>G;ENST00000435432:exon9:c.150+2T>G;ENST00000586263:exon8:c.489+2T>G;ENST00000456173:exon7:c.150+2T>G;ENST00000431212:exon7:c.150+2T>G;ENST00000586268:exon6:c.150+2T>G;ENST00000587881:exon1:c.15+2T>G)	.	.	0.999966514958823	0.942
18	55990569	A	C	18	58323337	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.990606938721612	0.708
18	55990569	A	G	18	58323337	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0413097182145201	0.272
18	55990569	A	T	18	58323337	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.953196456334557	0.65
18	55990570	C	A	18	58323338	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.84638772091044E-5	0.028
18	55990570	C	G	18	58323338	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.22408018193975E-5	0.032
18	55990570	C	T	18	58323338	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.77968007874709E-5	0.0
18	55990571	G	A	18	58323339	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.667291611250574	0.402
18	55990571	G	C	18	58323339	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.662525096305052	0.382
18	55990571	G	T	18	58323339	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.122688348228929	0.306
18	55990572	T	A	18	58323340	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00170151963575084	0.026
18	55990572	T	C	18	58323340	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.37030532868965E-4	0.04
18	55990572	T	G	18	58323340	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.43079267433861E-4	0.03
18	55990573	G	A	18	58323341	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.72410482137535E-6	0.0
18	55990573	G	C	18	58323341	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.72410482137535E-6	0.002
18	55990573	G	T	18	58323341	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.55312683788388E-6	0.002
18	55990574	G	A	18	58323342	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.87394847400842E-5	0.002
18	55990574	G	C	18	58323342	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.5220061350959E-5	0.012
18	55990574	G	T	18	58323342	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.87394847400842E-5	0.0
18	55992216	T	A	18	58324984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0148468843566635	0.462
18	55992216	T	C	18	58324984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00597501332119621	0.07
18	55992216	T	G	18	58324984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0152036710985544	0.436
18	55992217	T	A	18	58324985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.747666787303732	0.616
18	55992217	T	C	18	58324985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.03253259129444	0.252
18	55992217	T	G	18	58324985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.470277442577074	0.616
18	55992218	T	A	18	58324986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00298934110945978	0.19
18	55992218	T	C	18	58324986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.85571304766158E-4	0.02
18	55992218	T	G	18	58324986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00829186641910169	0.236
18	55992219	A	C	18	58324987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.4740542930854E-5	0.002
18	55992219	A	G	18	58324987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.01676690290093E-4	0.002
18	55992219	A	T	18	58324987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.23774681805705E-5	0.002
18	55992220	T	A	18	58324988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0120414995206828	0.21
18	55992220	T	C	18	58324988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.35261911188773E-4	0.012
18	55992220	T	G	18	58324988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999915184611357	0.992
18	55992221	T	A	18	58324989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00340895658270079	0.086
18	55992221	T	C	18	58324989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.23447351832476E-5	0.006
18	55992221	T	G	18	58324989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00349151208434077	0.062
18	55992222	C	A	18	58324990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.319826111193836	0.56
18	55992222	C	G	18	58324990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.138317765179975	0.542
18	55992222	C	T	18	58324990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.61711677361564E-4	0.046
18	55992223	C	A	18	58324991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999889863896379	0.934
18	55992223	C	G	18	58324991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.449567135292584	0.41
18	55992223	C	T	18	58324991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.1462338193281E-4	0.044
18	55992224	G	A	18	58324992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.4192600984885E-5	0.0
18	55992224	G	C	18	58324992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.55671836891454E-4	0.056
18	55992224	G	T	18	58324992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.42261818123395E-5	0.064
18	55992225	C	A	18	58324993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.955209747302965	0.81
18	55992225	C	G	18	58324993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999014936103695	0.7
18	55992225	C	T	18	58324993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00505585095545178	0.17
18	55992226	A	C	18	58324994	y	y	splicing	NEDD4L(NM_001144967:exon9:c.514-2A>C;NM_001243960:exon9:c.514-2A>C;NM_015277:exon9:c.514-2A>C;NM_001144964:exon9:c.151-2A>C;NM_001144968:exon9:c.490-2A>C;NM_001144965:exon9:c.151-2A>C;NM_001144971:exon10:c.151-2A>C;NM_001144969:exon9:c.490-2A>C;NM_001144970:exon8:c.151-2A>C;NM_001144966:exon8:c.151-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.514-2A>C;ENST00000400345:exon9:c.514-2A>C;ENST00000256832:exon9:c.151-2A>C;ENST00000382850:exon9:c.514-2A>C;ENST00000256830:exon9:c.514-2A>C;ENST00000456986:exon9:c.151-2A>C;ENST00000357895:exon9:c.490-2A>C;ENST00000435432:exon10:c.151-2A>C;ENST00000586263:exon9:c.490-2A>C;ENST00000456173:exon8:c.151-2A>C;ENST00000431212:exon8:c.151-2A>C;ENST00000586268:exon7:c.151-2A>C;ENST00000587881:exon2:c.16-2A>C)	.	.	0.999986741007567	0.94
18	55992226	A	G	18	58324994	y	y	splicing	NEDD4L(NM_001144967:exon9:c.514-2A>G;NM_001243960:exon9:c.514-2A>G;NM_015277:exon9:c.514-2A>G;NM_001144964:exon9:c.151-2A>G;NM_001144968:exon9:c.490-2A>G;NM_001144965:exon9:c.151-2A>G;NM_001144971:exon10:c.151-2A>G;NM_001144969:exon9:c.490-2A>G;NM_001144970:exon8:c.151-2A>G;NM_001144966:exon8:c.151-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.514-2A>G;ENST00000400345:exon9:c.514-2A>G;ENST00000256832:exon9:c.151-2A>G;ENST00000382850:exon9:c.514-2A>G;ENST00000256830:exon9:c.514-2A>G;ENST00000456986:exon9:c.151-2A>G;ENST00000357895:exon9:c.490-2A>G;ENST00000435432:exon10:c.151-2A>G;ENST00000586263:exon9:c.490-2A>G;ENST00000456173:exon8:c.151-2A>G;ENST00000431212:exon8:c.151-2A>G;ENST00000586268:exon7:c.151-2A>G;ENST00000587881:exon2:c.16-2A>G)	.	.	0.999986741007567	0.94
18	55992226	A	T	18	58324994	y	y	splicing	NEDD4L(NM_001144967:exon9:c.514-2A>T;NM_001243960:exon9:c.514-2A>T;NM_015277:exon9:c.514-2A>T;NM_001144964:exon9:c.151-2A>T;NM_001144968:exon9:c.490-2A>T;NM_001144965:exon9:c.151-2A>T;NM_001144971:exon10:c.151-2A>T;NM_001144969:exon9:c.490-2A>T;NM_001144970:exon8:c.151-2A>T;NM_001144966:exon8:c.151-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.514-2A>T;ENST00000400345:exon9:c.514-2A>T;ENST00000256832:exon9:c.151-2A>T;ENST00000382850:exon9:c.514-2A>T;ENST00000256830:exon9:c.514-2A>T;ENST00000456986:exon9:c.151-2A>T;ENST00000357895:exon9:c.490-2A>T;ENST00000435432:exon10:c.151-2A>T;ENST00000586263:exon9:c.490-2A>T;ENST00000456173:exon8:c.151-2A>T;ENST00000431212:exon8:c.151-2A>T;ENST00000586268:exon7:c.151-2A>T;ENST00000587881:exon2:c.16-2A>T)	.	.	0.999986741007567	0.938
18	55992227	G	A	18	58324995	y	y	splicing	NEDD4L(NM_001144967:exon9:c.514-1G>A;NM_001243960:exon9:c.514-1G>A;NM_015277:exon9:c.514-1G>A;NM_001144964:exon9:c.151-1G>A;NM_001144968:exon9:c.490-1G>A;NM_001144965:exon9:c.151-1G>A;NM_001144971:exon10:c.151-1G>A;NM_001144969:exon9:c.490-1G>A;NM_001144970:exon8:c.151-1G>A;NM_001144966:exon8:c.151-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.514-1G>A;ENST00000400345:exon9:c.514-1G>A;ENST00000256832:exon9:c.151-1G>A;ENST00000382850:exon9:c.514-1G>A;ENST00000256830:exon9:c.514-1G>A;ENST00000456986:exon9:c.151-1G>A;ENST00000357895:exon9:c.490-1G>A;ENST00000435432:exon10:c.151-1G>A;ENST00000586263:exon9:c.490-1G>A;ENST00000456173:exon8:c.151-1G>A;ENST00000431212:exon8:c.151-1G>A;ENST00000586268:exon7:c.151-1G>A;ENST00000587881:exon2:c.16-1G>A)	.	.	0.999983677848485	0.942
18	55992227	G	C	18	58324995	y	y	splicing	NEDD4L(NM_001144967:exon9:c.514-1G>C;NM_001243960:exon9:c.514-1G>C;NM_015277:exon9:c.514-1G>C;NM_001144964:exon9:c.151-1G>C;NM_001144968:exon9:c.490-1G>C;NM_001144965:exon9:c.151-1G>C;NM_001144971:exon10:c.151-1G>C;NM_001144969:exon9:c.490-1G>C;NM_001144970:exon8:c.151-1G>C;NM_001144966:exon8:c.151-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.514-1G>C;ENST00000400345:exon9:c.514-1G>C;ENST00000256832:exon9:c.151-1G>C;ENST00000382850:exon9:c.514-1G>C;ENST00000256830:exon9:c.514-1G>C;ENST00000456986:exon9:c.151-1G>C;ENST00000357895:exon9:c.490-1G>C;ENST00000435432:exon10:c.151-1G>C;ENST00000586263:exon9:c.490-1G>C;ENST00000456173:exon8:c.151-1G>C;ENST00000431212:exon8:c.151-1G>C;ENST00000586268:exon7:c.151-1G>C;ENST00000587881:exon2:c.16-1G>C)	.	.	0.999983677848485	0.942
18	55992227	G	T	18	58324995	y	y	splicing	NEDD4L(NM_001144967:exon9:c.514-1G>T;NM_001243960:exon9:c.514-1G>T;NM_015277:exon9:c.514-1G>T;NM_001144964:exon9:c.151-1G>T;NM_001144968:exon9:c.490-1G>T;NM_001144965:exon9:c.151-1G>T;NM_001144971:exon10:c.151-1G>T;NM_001144969:exon9:c.490-1G>T;NM_001144970:exon8:c.151-1G>T;NM_001144966:exon8:c.151-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.514-1G>T;ENST00000400345:exon9:c.514-1G>T;ENST00000256832:exon9:c.151-1G>T;ENST00000382850:exon9:c.514-1G>T;ENST00000256830:exon9:c.514-1G>T;ENST00000456986:exon9:c.151-1G>T;ENST00000357895:exon9:c.490-1G>T;ENST00000435432:exon10:c.151-1G>T;ENST00000586263:exon9:c.490-1G>T;ENST00000456173:exon8:c.151-1G>T;ENST00000431212:exon8:c.151-1G>T;ENST00000586268:exon7:c.151-1G>T;ENST00000587881:exon2:c.16-1G>T)	.	.	0.999983677848485	0.942
18	55992228	C	A	18	58324996	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.C490A:p.H164N;NEDD4L:NM_001144964:exon9:c.C151A:p.H51N;NEDD4L:NM_015277:exon9:c.C514A:p.H172N;NEDD4L:NM_001144967:exon9:c.C514A:p.H172N;NEDD4L:NM_001144971:exon10:c.C151A:p.H51N;NEDD4L:NM_001144968:exon9:c.C490A:p.H164N;NEDD4L:NM_001144970:exon8:c.C151A:p.H51N;NEDD4L:NM_001144965:exon9:c.C151A:p.H51N;NEDD4L:NM_001144966:exon8:c.C151A:p.H51N;NEDD4L:NM_001243960:exon9:c.C514A:p.H172N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.C16A:p.H6N;ENSG00000049759:ENST00000435432:exon10:c.C151A:p.H51N;ENSG00000049759:ENST00000382850:exon9:c.C514A:p.H172N;ENSG00000049759:ENST00000456986:exon9:c.C151A:p.H51N;ENSG00000049759:ENST00000256830:exon9:c.C514A:p.H172N;ENSG00000049759:ENST00000456173:exon8:c.C151A:p.H51N;ENSG00000049759:ENST00000357895:exon9:c.C490A:p.H164N;ENSG00000049759:ENST00000256832:exon9:c.C151A:p.H51N;ENSG00000049759:ENST00000431212:exon8:c.C151A:p.H51N;ENSG00000049759:ENST00000356462:exon9:c.C514A:p.H172N;ENSG00000049759:ENST00000400345:exon9:c.C514A:p.H172N;ENSG00000049759:ENST00000586263:exon9:c.C490A:p.H164N;ENSG00000049759:ENST00000586268:exon7:c.C151A:p.H51N;	0.00594421996113675	0.076
18	55992228	C	G	18	58324996	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.C490G:p.H164D;NEDD4L:NM_001144964:exon9:c.C151G:p.H51D;NEDD4L:NM_015277:exon9:c.C514G:p.H172D;NEDD4L:NM_001144967:exon9:c.C514G:p.H172D;NEDD4L:NM_001144971:exon10:c.C151G:p.H51D;NEDD4L:NM_001144968:exon9:c.C490G:p.H164D;NEDD4L:NM_001144970:exon8:c.C151G:p.H51D;NEDD4L:NM_001144965:exon9:c.C151G:p.H51D;NEDD4L:NM_001144966:exon8:c.C151G:p.H51D;NEDD4L:NM_001243960:exon9:c.C514G:p.H172D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.C16G:p.H6D;ENSG00000049759:ENST00000435432:exon10:c.C151G:p.H51D;ENSG00000049759:ENST00000382850:exon9:c.C514G:p.H172D;ENSG00000049759:ENST00000456986:exon9:c.C151G:p.H51D;ENSG00000049759:ENST00000256830:exon9:c.C514G:p.H172D;ENSG00000049759:ENST00000456173:exon8:c.C151G:p.H51D;ENSG00000049759:ENST00000357895:exon9:c.C490G:p.H164D;ENSG00000049759:ENST00000256832:exon9:c.C151G:p.H51D;ENSG00000049759:ENST00000431212:exon8:c.C151G:p.H51D;ENSG00000049759:ENST00000356462:exon9:c.C514G:p.H172D;ENSG00000049759:ENST00000400345:exon9:c.C514G:p.H172D;ENSG00000049759:ENST00000586263:exon9:c.C490G:p.H164D;ENSG00000049759:ENST00000586268:exon7:c.C151G:p.H51D;	0.00753140086685544	0.16
18	55992228	C	T	18	58324996	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.C490T:p.H164Y;NEDD4L:NM_001144964:exon9:c.C151T:p.H51Y;NEDD4L:NM_015277:exon9:c.C514T:p.H172Y;NEDD4L:NM_001144967:exon9:c.C514T:p.H172Y;NEDD4L:NM_001144971:exon10:c.C151T:p.H51Y;NEDD4L:NM_001144968:exon9:c.C490T:p.H164Y;NEDD4L:NM_001144970:exon8:c.C151T:p.H51Y;NEDD4L:NM_001144965:exon9:c.C151T:p.H51Y;NEDD4L:NM_001144966:exon8:c.C151T:p.H51Y;NEDD4L:NM_001243960:exon9:c.C514T:p.H172Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.C16T:p.H6Y;ENSG00000049759:ENST00000435432:exon10:c.C151T:p.H51Y;ENSG00000049759:ENST00000382850:exon9:c.C514T:p.H172Y;ENSG00000049759:ENST00000456986:exon9:c.C151T:p.H51Y;ENSG00000049759:ENST00000256830:exon9:c.C514T:p.H172Y;ENSG00000049759:ENST00000456173:exon8:c.C151T:p.H51Y;ENSG00000049759:ENST00000357895:exon9:c.C490T:p.H164Y;ENSG00000049759:ENST00000256832:exon9:c.C151T:p.H51Y;ENSG00000049759:ENST00000431212:exon8:c.C151T:p.H51Y;ENSG00000049759:ENST00000356462:exon9:c.C514T:p.H172Y;ENSG00000049759:ENST00000400345:exon9:c.C514T:p.H172Y;ENSG00000049759:ENST00000586263:exon9:c.C490T:p.H164Y;ENSG00000049759:ENST00000586268:exon7:c.C151T:p.H51Y;	0.00990785255768245	0.276
18	55992229	A	C	18	58324997	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.A491C:p.H164P;NEDD4L:NM_001144964:exon9:c.A152C:p.H51P;NEDD4L:NM_015277:exon9:c.A515C:p.H172P;NEDD4L:NM_001144967:exon9:c.A515C:p.H172P;NEDD4L:NM_001144971:exon10:c.A152C:p.H51P;NEDD4L:NM_001144968:exon9:c.A491C:p.H164P;NEDD4L:NM_001144970:exon8:c.A152C:p.H51P;NEDD4L:NM_001144965:exon9:c.A152C:p.H51P;NEDD4L:NM_001144966:exon8:c.A152C:p.H51P;NEDD4L:NM_001243960:exon9:c.A515C:p.H172P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.A17C:p.H6P;ENSG00000049759:ENST00000435432:exon10:c.A152C:p.H51P;ENSG00000049759:ENST00000382850:exon9:c.A515C:p.H172P;ENSG00000049759:ENST00000456986:exon9:c.A152C:p.H51P;ENSG00000049759:ENST00000256830:exon9:c.A515C:p.H172P;ENSG00000049759:ENST00000456173:exon8:c.A152C:p.H51P;ENSG00000049759:ENST00000357895:exon9:c.A491C:p.H164P;ENSG00000049759:ENST00000256832:exon9:c.A152C:p.H51P;ENSG00000049759:ENST00000431212:exon8:c.A152C:p.H51P;ENSG00000049759:ENST00000356462:exon9:c.A515C:p.H172P;ENSG00000049759:ENST00000400345:exon9:c.A515C:p.H172P;ENSG00000049759:ENST00000586263:exon9:c.A491C:p.H164P;ENSG00000049759:ENST00000586268:exon7:c.A152C:p.H51P;	1.13665428587499E-4	0.02
18	55992229	A	G	18	58324997	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.A491G:p.H164R;NEDD4L:NM_001144964:exon9:c.A152G:p.H51R;NEDD4L:NM_015277:exon9:c.A515G:p.H172R;NEDD4L:NM_001144967:exon9:c.A515G:p.H172R;NEDD4L:NM_001144971:exon10:c.A152G:p.H51R;NEDD4L:NM_001144968:exon9:c.A491G:p.H164R;NEDD4L:NM_001144970:exon8:c.A152G:p.H51R;NEDD4L:NM_001144965:exon9:c.A152G:p.H51R;NEDD4L:NM_001144966:exon8:c.A152G:p.H51R;NEDD4L:NM_001243960:exon9:c.A515G:p.H172R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.A17G:p.H6R;ENSG00000049759:ENST00000435432:exon10:c.A152G:p.H51R;ENSG00000049759:ENST00000382850:exon9:c.A515G:p.H172R;ENSG00000049759:ENST00000456986:exon9:c.A152G:p.H51R;ENSG00000049759:ENST00000256830:exon9:c.A515G:p.H172R;ENSG00000049759:ENST00000456173:exon8:c.A152G:p.H51R;ENSG00000049759:ENST00000357895:exon9:c.A491G:p.H164R;ENSG00000049759:ENST00000256832:exon9:c.A152G:p.H51R;ENSG00000049759:ENST00000431212:exon8:c.A152G:p.H51R;ENSG00000049759:ENST00000356462:exon9:c.A515G:p.H172R;ENSG00000049759:ENST00000400345:exon9:c.A515G:p.H172R;ENSG00000049759:ENST00000586263:exon9:c.A491G:p.H164R;ENSG00000049759:ENST00000586268:exon7:c.A152G:p.H51R;	0.00124817096841521	0.018
18	55992229	A	T	18	58324997	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.A491T:p.H164L;NEDD4L:NM_001144964:exon9:c.A152T:p.H51L;NEDD4L:NM_015277:exon9:c.A515T:p.H172L;NEDD4L:NM_001144967:exon9:c.A515T:p.H172L;NEDD4L:NM_001144971:exon10:c.A152T:p.H51L;NEDD4L:NM_001144968:exon9:c.A491T:p.H164L;NEDD4L:NM_001144970:exon8:c.A152T:p.H51L;NEDD4L:NM_001144965:exon9:c.A152T:p.H51L;NEDD4L:NM_001144966:exon8:c.A152T:p.H51L;NEDD4L:NM_001243960:exon9:c.A515T:p.H172L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.A17T:p.H6L;ENSG00000049759:ENST00000435432:exon10:c.A152T:p.H51L;ENSG00000049759:ENST00000382850:exon9:c.A515T:p.H172L;ENSG00000049759:ENST00000456986:exon9:c.A152T:p.H51L;ENSG00000049759:ENST00000256830:exon9:c.A515T:p.H172L;ENSG00000049759:ENST00000456173:exon8:c.A152T:p.H51L;ENSG00000049759:ENST00000357895:exon9:c.A491T:p.H164L;ENSG00000049759:ENST00000256832:exon9:c.A152T:p.H51L;ENSG00000049759:ENST00000431212:exon8:c.A152T:p.H51L;ENSG00000049759:ENST00000356462:exon9:c.A515T:p.H172L;ENSG00000049759:ENST00000400345:exon9:c.A515T:p.H172L;ENSG00000049759:ENST00000586263:exon9:c.A491T:p.H164L;ENSG00000049759:ENST00000586268:exon7:c.A152T:p.H51L;	8.70097151458934E-4	0.16
18	55992392	G	A	18	58325160	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon9:c.G654A:p.L218L;NEDD4L:NM_001144964:exon9:c.G315A:p.L105L;NEDD4L:NM_015277:exon9:c.G678A:p.L226L;NEDD4L:NM_001144967:exon9:c.G678A:p.L226L;NEDD4L:NM_001144971:exon10:c.G315A:p.L105L;NEDD4L:NM_001144968:exon9:c.G654A:p.L218L;NEDD4L:NM_001144970:exon8:c.G315A:p.L105L;NEDD4L:NM_001144965:exon9:c.G315A:p.L105L;NEDD4L:NM_001144966:exon8:c.G315A:p.L105L;NEDD4L:NM_001243960:exon9:c.G678A:p.L226L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.G180A:p.L60L;ENSG00000049759:ENST00000435432:exon10:c.G315A:p.L105L;ENSG00000049759:ENST00000382850:exon9:c.G678A:p.L226L;ENSG00000049759:ENST00000456986:exon9:c.G315A:p.L105L;ENSG00000049759:ENST00000256830:exon9:c.G678A:p.L226L;ENSG00000049759:ENST00000456173:exon8:c.G315A:p.L105L;ENSG00000049759:ENST00000357895:exon9:c.G654A:p.L218L;ENSG00000049759:ENST00000256832:exon9:c.G315A:p.L105L;ENSG00000049759:ENST00000431212:exon8:c.G315A:p.L105L;ENSG00000049759:ENST00000356462:exon9:c.G678A:p.L226L;ENSG00000049759:ENST00000400345:exon9:c.G678A:p.L226L;ENSG00000049759:ENST00000586263:exon9:c.G654A:p.L218L;ENSG00000049759:ENST00000586268:exon7:c.G315A:p.L105L;	4.74742241131914E-5	0.002
18	55992392	G	C	18	58325160	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon9:c.G654C:p.L218L;NEDD4L:NM_001144964:exon9:c.G315C:p.L105L;NEDD4L:NM_015277:exon9:c.G678C:p.L226L;NEDD4L:NM_001144967:exon9:c.G678C:p.L226L;NEDD4L:NM_001144971:exon10:c.G315C:p.L105L;NEDD4L:NM_001144968:exon9:c.G654C:p.L218L;NEDD4L:NM_001144970:exon8:c.G315C:p.L105L;NEDD4L:NM_001144965:exon9:c.G315C:p.L105L;NEDD4L:NM_001144966:exon8:c.G315C:p.L105L;NEDD4L:NM_001243960:exon9:c.G678C:p.L226L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.G180C:p.L60L;ENSG00000049759:ENST00000435432:exon10:c.G315C:p.L105L;ENSG00000049759:ENST00000382850:exon9:c.G678C:p.L226L;ENSG00000049759:ENST00000456986:exon9:c.G315C:p.L105L;ENSG00000049759:ENST00000256830:exon9:c.G678C:p.L226L;ENSG00000049759:ENST00000456173:exon8:c.G315C:p.L105L;ENSG00000049759:ENST00000357895:exon9:c.G654C:p.L218L;ENSG00000049759:ENST00000256832:exon9:c.G315C:p.L105L;ENSG00000049759:ENST00000431212:exon8:c.G315C:p.L105L;ENSG00000049759:ENST00000356462:exon9:c.G678C:p.L226L;ENSG00000049759:ENST00000400345:exon9:c.G678C:p.L226L;ENSG00000049759:ENST00000586263:exon9:c.G654C:p.L218L;ENSG00000049759:ENST00000586268:exon7:c.G315C:p.L105L;	4.74742241131914E-5	0.0
18	55992392	G	T	18	58325160	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon9:c.G654T:p.L218L;NEDD4L:NM_001144964:exon9:c.G315T:p.L105L;NEDD4L:NM_015277:exon9:c.G678T:p.L226L;NEDD4L:NM_001144967:exon9:c.G678T:p.L226L;NEDD4L:NM_001144971:exon10:c.G315T:p.L105L;NEDD4L:NM_001144968:exon9:c.G654T:p.L218L;NEDD4L:NM_001144970:exon8:c.G315T:p.L105L;NEDD4L:NM_001144965:exon9:c.G315T:p.L105L;NEDD4L:NM_001144966:exon8:c.G315T:p.L105L;NEDD4L:NM_001243960:exon9:c.G678T:p.L226L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.G180T:p.L60L;ENSG00000049759:ENST00000435432:exon10:c.G315T:p.L105L;ENSG00000049759:ENST00000382850:exon9:c.G678T:p.L226L;ENSG00000049759:ENST00000456986:exon9:c.G315T:p.L105L;ENSG00000049759:ENST00000256830:exon9:c.G678T:p.L226L;ENSG00000049759:ENST00000456173:exon8:c.G315T:p.L105L;ENSG00000049759:ENST00000357895:exon9:c.G654T:p.L218L;ENSG00000049759:ENST00000256832:exon9:c.G315T:p.L105L;ENSG00000049759:ENST00000431212:exon8:c.G315T:p.L105L;ENSG00000049759:ENST00000356462:exon9:c.G678T:p.L226L;ENSG00000049759:ENST00000400345:exon9:c.G678T:p.L226L;ENSG00000049759:ENST00000586263:exon9:c.G654T:p.L218L;ENSG00000049759:ENST00000586268:exon7:c.G315T:p.L105L;	8.65061720164235E-4	0.116
18	55992393	A	C	18	58325161	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.A655C:p.M219L;NEDD4L:NM_001144964:exon9:c.A316C:p.M106L;NEDD4L:NM_015277:exon9:c.A679C:p.M227L;NEDD4L:NM_001144967:exon9:c.A679C:p.M227L;NEDD4L:NM_001144971:exon10:c.A316C:p.M106L;NEDD4L:NM_001144968:exon9:c.A655C:p.M219L;NEDD4L:NM_001144970:exon8:c.A316C:p.M106L;NEDD4L:NM_001144965:exon9:c.A316C:p.M106L;NEDD4L:NM_001144966:exon8:c.A316C:p.M106L;NEDD4L:NM_001243960:exon9:c.A679C:p.M227L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.A181C:p.M61L;ENSG00000049759:ENST00000435432:exon10:c.A316C:p.M106L;ENSG00000049759:ENST00000382850:exon9:c.A679C:p.M227L;ENSG00000049759:ENST00000456986:exon9:c.A316C:p.M106L;ENSG00000049759:ENST00000256830:exon9:c.A679C:p.M227L;ENSG00000049759:ENST00000456173:exon8:c.A316C:p.M106L;ENSG00000049759:ENST00000357895:exon9:c.A655C:p.M219L;ENSG00000049759:ENST00000256832:exon9:c.A316C:p.M106L;ENSG00000049759:ENST00000431212:exon8:c.A316C:p.M106L;ENSG00000049759:ENST00000356462:exon9:c.A679C:p.M227L;ENSG00000049759:ENST00000400345:exon9:c.A679C:p.M227L;ENSG00000049759:ENST00000586263:exon9:c.A655C:p.M219L;ENSG00000049759:ENST00000586268:exon7:c.A316C:p.M106L;	0.784709759470962	0.614
18	55992393	A	G	18	58325161	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.A655G:p.M219V;NEDD4L:NM_001144964:exon9:c.A316G:p.M106V;NEDD4L:NM_015277:exon9:c.A679G:p.M227V;NEDD4L:NM_001144967:exon9:c.A679G:p.M227V;NEDD4L:NM_001144971:exon10:c.A316G:p.M106V;NEDD4L:NM_001144968:exon9:c.A655G:p.M219V;NEDD4L:NM_001144970:exon8:c.A316G:p.M106V;NEDD4L:NM_001144965:exon9:c.A316G:p.M106V;NEDD4L:NM_001144966:exon8:c.A316G:p.M106V;NEDD4L:NM_001243960:exon9:c.A679G:p.M227V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.A181G:p.M61V;ENSG00000049759:ENST00000435432:exon10:c.A316G:p.M106V;ENSG00000049759:ENST00000382850:exon9:c.A679G:p.M227V;ENSG00000049759:ENST00000456986:exon9:c.A316G:p.M106V;ENSG00000049759:ENST00000256830:exon9:c.A679G:p.M227V;ENSG00000049759:ENST00000456173:exon8:c.A316G:p.M106V;ENSG00000049759:ENST00000357895:exon9:c.A655G:p.M219V;ENSG00000049759:ENST00000256832:exon9:c.A316G:p.M106V;ENSG00000049759:ENST00000431212:exon8:c.A316G:p.M106V;ENSG00000049759:ENST00000356462:exon9:c.A679G:p.M227V;ENSG00000049759:ENST00000400345:exon9:c.A679G:p.M227V;ENSG00000049759:ENST00000586263:exon9:c.A655G:p.M219V;ENSG00000049759:ENST00000586268:exon7:c.A316G:p.M106V;	0.488372882079167	0.49
18	55992393	A	T	18	58325161	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.A655T:p.M219L;NEDD4L:NM_001144964:exon9:c.A316T:p.M106L;NEDD4L:NM_015277:exon9:c.A679T:p.M227L;NEDD4L:NM_001144967:exon9:c.A679T:p.M227L;NEDD4L:NM_001144971:exon10:c.A316T:p.M106L;NEDD4L:NM_001144968:exon9:c.A655T:p.M219L;NEDD4L:NM_001144970:exon8:c.A316T:p.M106L;NEDD4L:NM_001144965:exon9:c.A316T:p.M106L;NEDD4L:NM_001144966:exon8:c.A316T:p.M106L;NEDD4L:NM_001243960:exon9:c.A679T:p.M227L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.A181T:p.M61L;ENSG00000049759:ENST00000435432:exon10:c.A316T:p.M106L;ENSG00000049759:ENST00000382850:exon9:c.A679T:p.M227L;ENSG00000049759:ENST00000456986:exon9:c.A316T:p.M106L;ENSG00000049759:ENST00000256830:exon9:c.A679T:p.M227L;ENSG00000049759:ENST00000456173:exon8:c.A316T:p.M106L;ENSG00000049759:ENST00000357895:exon9:c.A655T:p.M219L;ENSG00000049759:ENST00000256832:exon9:c.A316T:p.M106L;ENSG00000049759:ENST00000431212:exon8:c.A316T:p.M106L;ENSG00000049759:ENST00000356462:exon9:c.A679T:p.M227L;ENSG00000049759:ENST00000400345:exon9:c.A679T:p.M227L;ENSG00000049759:ENST00000586263:exon9:c.A655T:p.M219L;ENSG00000049759:ENST00000586268:exon7:c.A316T:p.M106L;	0.780363167152512	0.67
18	55992394	T	A	18	58325162	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.T656A:p.M219K;NEDD4L:NM_001144964:exon9:c.T317A:p.M106K;NEDD4L:NM_015277:exon9:c.T680A:p.M227K;NEDD4L:NM_001144967:exon9:c.T680A:p.M227K;NEDD4L:NM_001144971:exon10:c.T317A:p.M106K;NEDD4L:NM_001144968:exon9:c.T656A:p.M219K;NEDD4L:NM_001144970:exon8:c.T317A:p.M106K;NEDD4L:NM_001144965:exon9:c.T317A:p.M106K;NEDD4L:NM_001144966:exon8:c.T317A:p.M106K;NEDD4L:NM_001243960:exon9:c.T680A:p.M227K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.T182A:p.M61K;ENSG00000049759:ENST00000435432:exon10:c.T317A:p.M106K;ENSG00000049759:ENST00000382850:exon9:c.T680A:p.M227K;ENSG00000049759:ENST00000456986:exon9:c.T317A:p.M106K;ENSG00000049759:ENST00000256830:exon9:c.T680A:p.M227K;ENSG00000049759:ENST00000456173:exon8:c.T317A:p.M106K;ENSG00000049759:ENST00000357895:exon9:c.T656A:p.M219K;ENSG00000049759:ENST00000256832:exon9:c.T317A:p.M106K;ENSG00000049759:ENST00000431212:exon8:c.T317A:p.M106K;ENSG00000049759:ENST00000356462:exon9:c.T680A:p.M227K;ENSG00000049759:ENST00000400345:exon9:c.T680A:p.M227K;ENSG00000049759:ENST00000586263:exon9:c.T656A:p.M219K;ENSG00000049759:ENST00000586268:exon7:c.T317A:p.M106K;	0.00136955467782069	0.012
18	55992394	T	C	18	58325162	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.T656C:p.M219T;NEDD4L:NM_001144964:exon9:c.T317C:p.M106T;NEDD4L:NM_015277:exon9:c.T680C:p.M227T;NEDD4L:NM_001144967:exon9:c.T680C:p.M227T;NEDD4L:NM_001144971:exon10:c.T317C:p.M106T;NEDD4L:NM_001144968:exon9:c.T656C:p.M219T;NEDD4L:NM_001144970:exon8:c.T317C:p.M106T;NEDD4L:NM_001144965:exon9:c.T317C:p.M106T;NEDD4L:NM_001144966:exon8:c.T317C:p.M106T;NEDD4L:NM_001243960:exon9:c.T680C:p.M227T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.T182C:p.M61T;ENSG00000049759:ENST00000435432:exon10:c.T317C:p.M106T;ENSG00000049759:ENST00000382850:exon9:c.T680C:p.M227T;ENSG00000049759:ENST00000456986:exon9:c.T317C:p.M106T;ENSG00000049759:ENST00000256830:exon9:c.T680C:p.M227T;ENSG00000049759:ENST00000456173:exon8:c.T317C:p.M106T;ENSG00000049759:ENST00000357895:exon9:c.T656C:p.M219T;ENSG00000049759:ENST00000256832:exon9:c.T317C:p.M106T;ENSG00000049759:ENST00000431212:exon8:c.T317C:p.M106T;ENSG00000049759:ENST00000356462:exon9:c.T680C:p.M227T;ENSG00000049759:ENST00000400345:exon9:c.T680C:p.M227T;ENSG00000049759:ENST00000586263:exon9:c.T656C:p.M219T;ENSG00000049759:ENST00000586268:exon7:c.T317C:p.M106T;	0.00961046988297116	0.254
18	55992394	T	G	18	58325162	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon9:c.T656G:p.M219R;NEDD4L:NM_001144964:exon9:c.T317G:p.M106R;NEDD4L:NM_015277:exon9:c.T680G:p.M227R;NEDD4L:NM_001144967:exon9:c.T680G:p.M227R;NEDD4L:NM_001144971:exon10:c.T317G:p.M106R;NEDD4L:NM_001144968:exon9:c.T656G:p.M219R;NEDD4L:NM_001144970:exon8:c.T317G:p.M106R;NEDD4L:NM_001144965:exon9:c.T317G:p.M106R;NEDD4L:NM_001144966:exon8:c.T317G:p.M106R;NEDD4L:NM_001243960:exon9:c.T680G:p.M227R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon2:c.T182G:p.M61R;ENSG00000049759:ENST00000435432:exon10:c.T317G:p.M106R;ENSG00000049759:ENST00000382850:exon9:c.T680G:p.M227R;ENSG00000049759:ENST00000456986:exon9:c.T317G:p.M106R;ENSG00000049759:ENST00000256830:exon9:c.T680G:p.M227R;ENSG00000049759:ENST00000456173:exon8:c.T317G:p.M106R;ENSG00000049759:ENST00000357895:exon9:c.T656G:p.M219R;ENSG00000049759:ENST00000256832:exon9:c.T317G:p.M106R;ENSG00000049759:ENST00000431212:exon8:c.T317G:p.M106R;ENSG00000049759:ENST00000356462:exon9:c.T680G:p.M227R;ENSG00000049759:ENST00000400345:exon9:c.T680G:p.M227R;ENSG00000049759:ENST00000586263:exon9:c.T656G:p.M219R;ENSG00000049759:ENST00000586268:exon7:c.T317G:p.M106R;	4.87062444344149E-4	0.05
18	55992395	G	A	18	58325163	y	y	splicing	NEDD4L(NM_001144967:exon9:c.680+1G>A;NM_001243960:exon9:c.680+1G>A;NM_015277:exon9:c.680+1G>A;NM_001144964:exon9:c.317+1G>A;NM_001144968:exon9:c.656+1G>A;NM_001144965:exon9:c.317+1G>A;NM_001144971:exon10:c.317+1G>A;NM_001144969:exon9:c.656+1G>A;NM_001144970:exon8:c.317+1G>A;NM_001144966:exon8:c.317+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.680+1G>A;ENST00000400345:exon9:c.680+1G>A;ENST00000256832:exon9:c.317+1G>A;ENST00000382850:exon9:c.680+1G>A;ENST00000256830:exon9:c.680+1G>A;ENST00000456986:exon9:c.317+1G>A;ENST00000357895:exon9:c.656+1G>A;ENST00000435432:exon10:c.317+1G>A;ENST00000586263:exon9:c.656+1G>A;ENST00000456173:exon8:c.317+1G>A;ENST00000431212:exon8:c.317+1G>A;ENST00000586268:exon7:c.317+1G>A;ENST00000587881:exon2:c.182+1G>A)	.	.	0.999985532734767	0.936
18	55992395	G	C	18	58325163	y	y	splicing	NEDD4L(NM_001144967:exon9:c.680+1G>C;NM_001243960:exon9:c.680+1G>C;NM_015277:exon9:c.680+1G>C;NM_001144964:exon9:c.317+1G>C;NM_001144968:exon9:c.656+1G>C;NM_001144965:exon9:c.317+1G>C;NM_001144971:exon10:c.317+1G>C;NM_001144969:exon9:c.656+1G>C;NM_001144970:exon8:c.317+1G>C;NM_001144966:exon8:c.317+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.680+1G>C;ENST00000400345:exon9:c.680+1G>C;ENST00000256832:exon9:c.317+1G>C;ENST00000382850:exon9:c.680+1G>C;ENST00000256830:exon9:c.680+1G>C;ENST00000456986:exon9:c.317+1G>C;ENST00000357895:exon9:c.656+1G>C;ENST00000435432:exon10:c.317+1G>C;ENST00000586263:exon9:c.656+1G>C;ENST00000456173:exon8:c.317+1G>C;ENST00000431212:exon8:c.317+1G>C;ENST00000586268:exon7:c.317+1G>C;ENST00000587881:exon2:c.182+1G>C)	.	.	0.999985532734767	0.936
18	55992395	G	T	18	58325163	y	y	splicing	NEDD4L(NM_001144967:exon9:c.680+1G>T;NM_001243960:exon9:c.680+1G>T;NM_015277:exon9:c.680+1G>T;NM_001144964:exon9:c.317+1G>T;NM_001144968:exon9:c.656+1G>T;NM_001144965:exon9:c.317+1G>T;NM_001144971:exon10:c.317+1G>T;NM_001144969:exon9:c.656+1G>T;NM_001144970:exon8:c.317+1G>T;NM_001144966:exon8:c.317+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.680+1G>T;ENST00000400345:exon9:c.680+1G>T;ENST00000256832:exon9:c.317+1G>T;ENST00000382850:exon9:c.680+1G>T;ENST00000256830:exon9:c.680+1G>T;ENST00000456986:exon9:c.317+1G>T;ENST00000357895:exon9:c.656+1G>T;ENST00000435432:exon10:c.317+1G>T;ENST00000586263:exon9:c.656+1G>T;ENST00000456173:exon8:c.317+1G>T;ENST00000431212:exon8:c.317+1G>T;ENST00000586268:exon7:c.317+1G>T;ENST00000587881:exon2:c.182+1G>T)	.	.	0.999985532734767	0.936
18	55992396	T	A	18	58325164	y	y	splicing	NEDD4L(NM_001144967:exon9:c.680+2T>A;NM_001243960:exon9:c.680+2T>A;NM_015277:exon9:c.680+2T>A;NM_001144964:exon9:c.317+2T>A;NM_001144968:exon9:c.656+2T>A;NM_001144965:exon9:c.317+2T>A;NM_001144971:exon10:c.317+2T>A;NM_001144969:exon9:c.656+2T>A;NM_001144970:exon8:c.317+2T>A;NM_001144966:exon8:c.317+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.680+2T>A;ENST00000400345:exon9:c.680+2T>A;ENST00000256832:exon9:c.317+2T>A;ENST00000382850:exon9:c.680+2T>A;ENST00000256830:exon9:c.680+2T>A;ENST00000456986:exon9:c.317+2T>A;ENST00000357895:exon9:c.656+2T>A;ENST00000435432:exon10:c.317+2T>A;ENST00000586263:exon9:c.656+2T>A;ENST00000456173:exon8:c.317+2T>A;ENST00000431212:exon8:c.317+2T>A;ENST00000586268:exon7:c.317+2T>A;ENST00000587881:exon2:c.182+2T>A)	.	.	0.999988247793601	0.928
18	55992396	T	C	18	58325164	y	y	splicing	NEDD4L(NM_001144967:exon9:c.680+2T>C;NM_001243960:exon9:c.680+2T>C;NM_015277:exon9:c.680+2T>C;NM_001144964:exon9:c.317+2T>C;NM_001144968:exon9:c.656+2T>C;NM_001144965:exon9:c.317+2T>C;NM_001144971:exon10:c.317+2T>C;NM_001144969:exon9:c.656+2T>C;NM_001144970:exon8:c.317+2T>C;NM_001144966:exon8:c.317+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.680+2T>C;ENST00000400345:exon9:c.680+2T>C;ENST00000256832:exon9:c.317+2T>C;ENST00000382850:exon9:c.680+2T>C;ENST00000256830:exon9:c.680+2T>C;ENST00000456986:exon9:c.317+2T>C;ENST00000357895:exon9:c.656+2T>C;ENST00000435432:exon10:c.317+2T>C;ENST00000586263:exon9:c.656+2T>C;ENST00000456173:exon8:c.317+2T>C;ENST00000431212:exon8:c.317+2T>C;ENST00000586268:exon7:c.317+2T>C;ENST00000587881:exon2:c.182+2T>C)	.	.	0.999929727175276	0.858
18	55992396	T	G	18	58325164	y	y	splicing	NEDD4L(NM_001144967:exon9:c.680+2T>G;NM_001243960:exon9:c.680+2T>G;NM_015277:exon9:c.680+2T>G;NM_001144964:exon9:c.317+2T>G;NM_001144968:exon9:c.656+2T>G;NM_001144965:exon9:c.317+2T>G;NM_001144971:exon10:c.317+2T>G;NM_001144969:exon9:c.656+2T>G;NM_001144970:exon8:c.317+2T>G;NM_001144966:exon8:c.317+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon9:c.680+2T>G;ENST00000400345:exon9:c.680+2T>G;ENST00000256832:exon9:c.317+2T>G;ENST00000382850:exon9:c.680+2T>G;ENST00000256830:exon9:c.680+2T>G;ENST00000456986:exon9:c.317+2T>G;ENST00000357895:exon9:c.656+2T>G;ENST00000435432:exon10:c.317+2T>G;ENST00000586263:exon9:c.656+2T>G;ENST00000456173:exon8:c.317+2T>G;ENST00000431212:exon8:c.317+2T>G;ENST00000586268:exon7:c.317+2T>G;ENST00000587881:exon2:c.182+2T>G)	.	.	0.999988247793601	0.928
18	55992397	G	A	18	58325165	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.92916363273825E-5	0.002
18	55992397	G	C	18	58325165	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.986738504341192	0.584
18	55992397	G	T	18	58325165	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.985507324250898	0.538
18	55992398	A	C	18	58325166	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999200600857654	0.94
18	55992398	A	G	18	58325166	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999197392937135	0.93
18	55992398	A	T	18	58325166	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999218293118617	0.94
18	55992399	G	A	18	58325167	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999965845723167	1.0
18	55992399	G	C	18	58325167	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99989555360379	0.874
18	55992399	G	T	18	58325167	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99996163660889	0.99
18	55992400	T	A	18	58325168	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997581096930643	0.842
18	55992400	T	C	18	58325168	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.995096160235595	0.916
18	55992400	T	G	18	58325168	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997225027160079	0.896
18	55992401	A	C	18	58325169	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.26362057741401E-5	0.0
18	55992401	A	G	18	58325169	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.26362057741401E-5	0.0
18	55992401	A	T	18	58325169	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.21775140396569E-5	0.0
18	55992402	C	A	18	58325170	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.53387827451124E-4	0.004
18	55992402	C	G	18	58325170	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.47499707423883E-4	0.004
18	55992402	C	T	18	58325170	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.06894360235194E-4	0.004
18	55996215	C	A	18	58328983	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00736979086134087	0.13
18	55996215	C	G	18	58328983	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00480242030287169	0.106
18	55996215	C	T	18	58328983	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.39116186418396E-4	0.006
18	55996216	T	A	18	58328984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.966975645229549	0.712
18	55996216	T	C	18	58328984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.89835753266024E-4	0.084
18	55996216	T	G	18	58328984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0189242606949881	0.284
18	55996217	G	A	18	58328985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.2036500106692E-5	0.02
18	55996217	G	C	18	58328985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.91157645574935E-5	0.0
18	55996217	G	T	18	58328985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.14443255838104E-5	0.0
18	55996218	C	A	18	58328986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00245456742795284	0.09
18	55996218	C	G	18	58328986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0190626321204297	0.088
18	55996218	C	T	18	58328986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.22324660413101E-5	0.016
18	55996219	A	C	18	58328987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.67944982512943E-5	0.0
18	55996219	A	G	18	58328987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.44980265877017E-5	0.012
18	55996219	A	T	18	58328987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.67944982512943E-5	0.0
18	55996220	T	A	18	58328988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999687593365454	0.988
18	55996220	T	C	18	58328988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.97420142792554E-5	0.024
18	55996220	T	G	18	58328988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999687593365454	0.984
18	55996221	G	A	18	58328989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.17392527110747E-5	0.002
18	55996221	G	C	18	58328989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.72574789847114E-5	0.002
18	55996221	G	T	18	58328989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.27219349862041E-5	0.0
18	55996222	C	A	18	58328990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.74083742846203E-4	0.056
18	55996222	C	G	18	58328990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.86376758634892E-4	0.056
18	55996222	C	T	18	58328990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.06481237244302E-5	0.0
18	55996223	T	A	18	58328991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.78091283777824E-5	0.008
18	55996223	T	C	18	58328991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.86517672982339E-5	0.012
18	55996223	T	G	18	58328991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.32783305933979E-5	0.006
18	55996224	C	A	18	58328992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.738623513754803	0.716
18	55996224	C	G	18	58328992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998772571428724	0.876
18	55996224	C	T	18	58328992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00157859614475809	0.158
18	55996225	A	C	18	58328993	y	y	splicing	NEDD4L(NM_001144967:exon10:c.681-2A>C;NM_001243960:exon10:c.681-2A>C;NM_015277:exon10:c.681-2A>C;NM_001144964:exon10:c.318-2A>C;NM_001144968:exon10:c.657-2A>C;NM_001144965:exon10:c.318-2A>C;NM_001144971:exon11:c.318-2A>C;NM_001144969:exon10:c.657-2A>C;NM_001144970:exon9:c.318-2A>C;NM_001144966:exon9:c.318-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.681-2A>C;ENST00000400345:exon10:c.681-2A>C;ENST00000256832:exon10:c.318-2A>C;ENST00000382850:exon10:c.681-2A>C;ENST00000256830:exon10:c.681-2A>C;ENST00000456986:exon10:c.318-2A>C;ENST00000357895:exon10:c.657-2A>C;ENST00000435432:exon11:c.318-2A>C;ENST00000586263:exon10:c.657-2A>C;ENST00000456173:exon9:c.318-2A>C;ENST00000431212:exon9:c.318-2A>C;ENST00000586268:exon8:c.318-2A>C;ENST00000587881:exon3:c.183-2A>C)	.	.	0.999959626360342	0.914
18	55996225	A	G	18	58328993	y	y	splicing	NEDD4L(NM_001144967:exon10:c.681-2A>G;NM_001243960:exon10:c.681-2A>G;NM_015277:exon10:c.681-2A>G;NM_001144964:exon10:c.318-2A>G;NM_001144968:exon10:c.657-2A>G;NM_001144965:exon10:c.318-2A>G;NM_001144971:exon11:c.318-2A>G;NM_001144969:exon10:c.657-2A>G;NM_001144970:exon9:c.318-2A>G;NM_001144966:exon9:c.318-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.681-2A>G;ENST00000400345:exon10:c.681-2A>G;ENST00000256832:exon10:c.318-2A>G;ENST00000382850:exon10:c.681-2A>G;ENST00000256830:exon10:c.681-2A>G;ENST00000456986:exon10:c.318-2A>G;ENST00000357895:exon10:c.657-2A>G;ENST00000435432:exon11:c.318-2A>G;ENST00000586263:exon10:c.657-2A>G;ENST00000456173:exon9:c.318-2A>G;ENST00000431212:exon9:c.318-2A>G;ENST00000586268:exon8:c.318-2A>G;ENST00000587881:exon3:c.183-2A>G)	.	.	0.999959626360342	0.914
18	55996225	A	T	18	58328993	y	y	splicing	NEDD4L(NM_001144967:exon10:c.681-2A>T;NM_001243960:exon10:c.681-2A>T;NM_015277:exon10:c.681-2A>T;NM_001144964:exon10:c.318-2A>T;NM_001144968:exon10:c.657-2A>T;NM_001144965:exon10:c.318-2A>T;NM_001144971:exon11:c.318-2A>T;NM_001144969:exon10:c.657-2A>T;NM_001144970:exon9:c.318-2A>T;NM_001144966:exon9:c.318-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.681-2A>T;ENST00000400345:exon10:c.681-2A>T;ENST00000256832:exon10:c.318-2A>T;ENST00000382850:exon10:c.681-2A>T;ENST00000256830:exon10:c.681-2A>T;ENST00000456986:exon10:c.318-2A>T;ENST00000357895:exon10:c.657-2A>T;ENST00000435432:exon11:c.318-2A>T;ENST00000586263:exon10:c.657-2A>T;ENST00000456173:exon9:c.318-2A>T;ENST00000431212:exon9:c.318-2A>T;ENST00000586268:exon8:c.318-2A>T;ENST00000587881:exon3:c.183-2A>T)	.	.	0.999979394981131	0.92
18	55996226	G	A	18	58328994	y	y	splicing	NEDD4L(NM_001144967:exon10:c.681-1G>A;NM_001243960:exon10:c.681-1G>A;NM_015277:exon10:c.681-1G>A;NM_001144964:exon10:c.318-1G>A;NM_001144968:exon10:c.657-1G>A;NM_001144965:exon10:c.318-1G>A;NM_001144971:exon11:c.318-1G>A;NM_001144969:exon10:c.657-1G>A;NM_001144970:exon9:c.318-1G>A;NM_001144966:exon9:c.318-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.681-1G>A;ENST00000400345:exon10:c.681-1G>A;ENST00000256832:exon10:c.318-1G>A;ENST00000382850:exon10:c.681-1G>A;ENST00000256830:exon10:c.681-1G>A;ENST00000456986:exon10:c.318-1G>A;ENST00000357895:exon10:c.657-1G>A;ENST00000435432:exon11:c.318-1G>A;ENST00000586263:exon10:c.657-1G>A;ENST00000456173:exon9:c.318-1G>A;ENST00000431212:exon9:c.318-1G>A;ENST00000586268:exon8:c.318-1G>A;ENST00000587881:exon3:c.183-1G>A)	.	.	0.999982627682474	0.916
18	55996226	G	C	18	58328994	y	y	splicing	NEDD4L(NM_001144967:exon10:c.681-1G>C;NM_001243960:exon10:c.681-1G>C;NM_015277:exon10:c.681-1G>C;NM_001144964:exon10:c.318-1G>C;NM_001144968:exon10:c.657-1G>C;NM_001144965:exon10:c.318-1G>C;NM_001144971:exon11:c.318-1G>C;NM_001144969:exon10:c.657-1G>C;NM_001144970:exon9:c.318-1G>C;NM_001144966:exon9:c.318-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.681-1G>C;ENST00000400345:exon10:c.681-1G>C;ENST00000256832:exon10:c.318-1G>C;ENST00000382850:exon10:c.681-1G>C;ENST00000256830:exon10:c.681-1G>C;ENST00000456986:exon10:c.318-1G>C;ENST00000357895:exon10:c.657-1G>C;ENST00000435432:exon11:c.318-1G>C;ENST00000586263:exon10:c.657-1G>C;ENST00000456173:exon9:c.318-1G>C;ENST00000431212:exon9:c.318-1G>C;ENST00000586268:exon8:c.318-1G>C;ENST00000587881:exon3:c.183-1G>C)	.	.	0.999982627682474	0.916
18	55996226	G	T	18	58328994	y	y	splicing	NEDD4L(NM_001144967:exon10:c.681-1G>T;NM_001243960:exon10:c.681-1G>T;NM_015277:exon10:c.681-1G>T;NM_001144964:exon10:c.318-1G>T;NM_001144968:exon10:c.657-1G>T;NM_001144965:exon10:c.318-1G>T;NM_001144971:exon11:c.318-1G>T;NM_001144969:exon10:c.657-1G>T;NM_001144970:exon9:c.318-1G>T;NM_001144966:exon9:c.318-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.681-1G>T;ENST00000400345:exon10:c.681-1G>T;ENST00000256832:exon10:c.318-1G>T;ENST00000382850:exon10:c.681-1G>T;ENST00000256830:exon10:c.681-1G>T;ENST00000456986:exon10:c.318-1G>T;ENST00000357895:exon10:c.657-1G>T;ENST00000435432:exon11:c.318-1G>T;ENST00000586263:exon10:c.657-1G>T;ENST00000456173:exon9:c.318-1G>T;ENST00000431212:exon9:c.318-1G>T;ENST00000586268:exon8:c.318-1G>T;ENST00000587881:exon3:c.183-1G>T)	.	.	0.999982627682474	0.916
18	55996227	G	A	18	58328995	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G657A:p.M219I;NEDD4L:NM_001144964:exon10:c.G318A:p.M106I;NEDD4L:NM_015277:exon10:c.G681A:p.M227I;NEDD4L:NM_001144967:exon10:c.G681A:p.M227I;NEDD4L:NM_001144971:exon11:c.G318A:p.M106I;NEDD4L:NM_001144968:exon10:c.G657A:p.M219I;NEDD4L:NM_001144970:exon9:c.G318A:p.M106I;NEDD4L:NM_001144965:exon10:c.G318A:p.M106I;NEDD4L:NM_001144966:exon9:c.G318A:p.M106I;NEDD4L:NM_001243960:exon10:c.G681A:p.M227I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G183A:p.M61I;ENSG00000049759:ENST00000435432:exon11:c.G318A:p.M106I;ENSG00000049759:ENST00000382850:exon10:c.G681A:p.M227I;ENSG00000049759:ENST00000456986:exon10:c.G318A:p.M106I;ENSG00000049759:ENST00000256830:exon10:c.G681A:p.M227I;ENSG00000049759:ENST00000456173:exon9:c.G318A:p.M106I;ENSG00000049759:ENST00000357895:exon10:c.G657A:p.M219I;ENSG00000049759:ENST00000256832:exon10:c.G318A:p.M106I;ENSG00000049759:ENST00000431212:exon9:c.G318A:p.M106I;ENSG00000049759:ENST00000356462:exon10:c.G681A:p.M227I;ENSG00000049759:ENST00000400345:exon10:c.G681A:p.M227I;ENSG00000049759:ENST00000586263:exon10:c.G657A:p.M219I;ENSG00000049759:ENST00000586268:exon8:c.G318A:p.M106I;	0.611566075182784	0.54
18	55996227	G	C	18	58328995	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G657C:p.M219I;NEDD4L:NM_001144964:exon10:c.G318C:p.M106I;NEDD4L:NM_015277:exon10:c.G681C:p.M227I;NEDD4L:NM_001144967:exon10:c.G681C:p.M227I;NEDD4L:NM_001144971:exon11:c.G318C:p.M106I;NEDD4L:NM_001144968:exon10:c.G657C:p.M219I;NEDD4L:NM_001144970:exon9:c.G318C:p.M106I;NEDD4L:NM_001144965:exon10:c.G318C:p.M106I;NEDD4L:NM_001144966:exon9:c.G318C:p.M106I;NEDD4L:NM_001243960:exon10:c.G681C:p.M227I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G183C:p.M61I;ENSG00000049759:ENST00000435432:exon11:c.G318C:p.M106I;ENSG00000049759:ENST00000382850:exon10:c.G681C:p.M227I;ENSG00000049759:ENST00000456986:exon10:c.G318C:p.M106I;ENSG00000049759:ENST00000256830:exon10:c.G681C:p.M227I;ENSG00000049759:ENST00000456173:exon9:c.G318C:p.M106I;ENSG00000049759:ENST00000357895:exon10:c.G657C:p.M219I;ENSG00000049759:ENST00000256832:exon10:c.G318C:p.M106I;ENSG00000049759:ENST00000431212:exon9:c.G318C:p.M106I;ENSG00000049759:ENST00000356462:exon10:c.G681C:p.M227I;ENSG00000049759:ENST00000400345:exon10:c.G681C:p.M227I;ENSG00000049759:ENST00000586263:exon10:c.G657C:p.M219I;ENSG00000049759:ENST00000586268:exon8:c.G318C:p.M106I;	0.945412856064619	0.522
18	55996227	G	T	18	58328995	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G657T:p.M219I;NEDD4L:NM_001144964:exon10:c.G318T:p.M106I;NEDD4L:NM_015277:exon10:c.G681T:p.M227I;NEDD4L:NM_001144967:exon10:c.G681T:p.M227I;NEDD4L:NM_001144971:exon11:c.G318T:p.M106I;NEDD4L:NM_001144968:exon10:c.G657T:p.M219I;NEDD4L:NM_001144970:exon9:c.G318T:p.M106I;NEDD4L:NM_001144965:exon10:c.G318T:p.M106I;NEDD4L:NM_001144966:exon9:c.G318T:p.M106I;NEDD4L:NM_001243960:exon10:c.G681T:p.M227I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G183T:p.M61I;ENSG00000049759:ENST00000435432:exon11:c.G318T:p.M106I;ENSG00000049759:ENST00000382850:exon10:c.G681T:p.M227I;ENSG00000049759:ENST00000456986:exon10:c.G318T:p.M106I;ENSG00000049759:ENST00000256830:exon10:c.G681T:p.M227I;ENSG00000049759:ENST00000456173:exon9:c.G318T:p.M106I;ENSG00000049759:ENST00000357895:exon10:c.G657T:p.M219I;ENSG00000049759:ENST00000256832:exon10:c.G318T:p.M106I;ENSG00000049759:ENST00000431212:exon9:c.G318T:p.M106I;ENSG00000049759:ENST00000356462:exon10:c.G681T:p.M227I;ENSG00000049759:ENST00000400345:exon10:c.G681T:p.M227I;ENSG00000049759:ENST00000586263:exon10:c.G657T:p.M219I;ENSG00000049759:ENST00000586268:exon8:c.G318T:p.M106I;	0.963867146708465	0.612
18	55996228	G	A	18	58328996	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G658A:p.D220N;NEDD4L:NM_001144964:exon10:c.G319A:p.D107N;NEDD4L:NM_015277:exon10:c.G682A:p.D228N;NEDD4L:NM_001144967:exon10:c.G682A:p.D228N;NEDD4L:NM_001144971:exon11:c.G319A:p.D107N;NEDD4L:NM_001144968:exon10:c.G658A:p.D220N;NEDD4L:NM_001144970:exon9:c.G319A:p.D107N;NEDD4L:NM_001144965:exon10:c.G319A:p.D107N;NEDD4L:NM_001144966:exon9:c.G319A:p.D107N;NEDD4L:NM_001243960:exon10:c.G682A:p.D228N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G184A:p.D62N;ENSG00000049759:ENST00000435432:exon11:c.G319A:p.D107N;ENSG00000049759:ENST00000382850:exon10:c.G682A:p.D228N;ENSG00000049759:ENST00000456986:exon10:c.G319A:p.D107N;ENSG00000049759:ENST00000256830:exon10:c.G682A:p.D228N;ENSG00000049759:ENST00000456173:exon9:c.G319A:p.D107N;ENSG00000049759:ENST00000357895:exon10:c.G658A:p.D220N;ENSG00000049759:ENST00000256832:exon10:c.G319A:p.D107N;ENSG00000049759:ENST00000431212:exon9:c.G319A:p.D107N;ENSG00000049759:ENST00000356462:exon10:c.G682A:p.D228N;ENSG00000049759:ENST00000400345:exon10:c.G682A:p.D228N;ENSG00000049759:ENST00000586263:exon10:c.G658A:p.D220N;ENSG00000049759:ENST00000586268:exon8:c.G319A:p.D107N;	0.980314899739333	0.668
18	55996228	G	C	18	58328996	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G658C:p.D220H;NEDD4L:NM_001144964:exon10:c.G319C:p.D107H;NEDD4L:NM_015277:exon10:c.G682C:p.D228H;NEDD4L:NM_001144967:exon10:c.G682C:p.D228H;NEDD4L:NM_001144971:exon11:c.G319C:p.D107H;NEDD4L:NM_001144968:exon10:c.G658C:p.D220H;NEDD4L:NM_001144970:exon9:c.G319C:p.D107H;NEDD4L:NM_001144965:exon10:c.G319C:p.D107H;NEDD4L:NM_001144966:exon9:c.G319C:p.D107H;NEDD4L:NM_001243960:exon10:c.G682C:p.D228H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G184C:p.D62H;ENSG00000049759:ENST00000435432:exon11:c.G319C:p.D107H;ENSG00000049759:ENST00000382850:exon10:c.G682C:p.D228H;ENSG00000049759:ENST00000456986:exon10:c.G319C:p.D107H;ENSG00000049759:ENST00000256830:exon10:c.G682C:p.D228H;ENSG00000049759:ENST00000456173:exon9:c.G319C:p.D107H;ENSG00000049759:ENST00000357895:exon10:c.G658C:p.D220H;ENSG00000049759:ENST00000256832:exon10:c.G319C:p.D107H;ENSG00000049759:ENST00000431212:exon9:c.G319C:p.D107H;ENSG00000049759:ENST00000356462:exon10:c.G682C:p.D228H;ENSG00000049759:ENST00000400345:exon10:c.G682C:p.D228H;ENSG00000049759:ENST00000586263:exon10:c.G658C:p.D220H;ENSG00000049759:ENST00000586268:exon8:c.G319C:p.D107H;	0.991150530101447	0.708
18	55996228	G	T	18	58328996	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G658T:p.D220Y;NEDD4L:NM_001144964:exon10:c.G319T:p.D107Y;NEDD4L:NM_015277:exon10:c.G682T:p.D228Y;NEDD4L:NM_001144967:exon10:c.G682T:p.D228Y;NEDD4L:NM_001144971:exon11:c.G319T:p.D107Y;NEDD4L:NM_001144968:exon10:c.G658T:p.D220Y;NEDD4L:NM_001144970:exon9:c.G319T:p.D107Y;NEDD4L:NM_001144965:exon10:c.G319T:p.D107Y;NEDD4L:NM_001144966:exon9:c.G319T:p.D107Y;NEDD4L:NM_001243960:exon10:c.G682T:p.D228Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G184T:p.D62Y;ENSG00000049759:ENST00000435432:exon11:c.G319T:p.D107Y;ENSG00000049759:ENST00000382850:exon10:c.G682T:p.D228Y;ENSG00000049759:ENST00000456986:exon10:c.G319T:p.D107Y;ENSG00000049759:ENST00000256830:exon10:c.G682T:p.D228Y;ENSG00000049759:ENST00000456173:exon9:c.G319T:p.D107Y;ENSG00000049759:ENST00000357895:exon10:c.G658T:p.D220Y;ENSG00000049759:ENST00000256832:exon10:c.G319T:p.D107Y;ENSG00000049759:ENST00000431212:exon9:c.G319T:p.D107Y;ENSG00000049759:ENST00000356462:exon10:c.G682T:p.D228Y;ENSG00000049759:ENST00000400345:exon10:c.G682T:p.D228Y;ENSG00000049759:ENST00000586263:exon10:c.G658T:p.D220Y;ENSG00000049759:ENST00000586268:exon8:c.G319T:p.D107Y;	0.983967158885204	0.866
18	55996357	G	A	18	58329125	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G787A:p.E263K;NEDD4L:NM_001144964:exon10:c.G448A:p.E150K;NEDD4L:NM_015277:exon10:c.G811A:p.E271K;NEDD4L:NM_001144967:exon10:c.G811A:p.E271K;NEDD4L:NM_001144971:exon11:c.G448A:p.E150K;NEDD4L:NM_001144968:exon10:c.G787A:p.E263K;NEDD4L:NM_001144970:exon9:c.G448A:p.E150K;NEDD4L:NM_001144965:exon10:c.G448A:p.E150K;NEDD4L:NM_001144966:exon9:c.G448A:p.E150K;NEDD4L:NM_001243960:exon10:c.G811A:p.E271K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G313A:p.E105K;ENSG00000049759:ENST00000435432:exon11:c.G448A:p.E150K;ENSG00000049759:ENST00000382850:exon10:c.G811A:p.E271K;ENSG00000049759:ENST00000456986:exon10:c.G448A:p.E150K;ENSG00000049759:ENST00000256830:exon10:c.G811A:p.E271K;ENSG00000049759:ENST00000456173:exon9:c.G448A:p.E150K;ENSG00000049759:ENST00000357895:exon10:c.G787A:p.E263K;ENSG00000049759:ENST00000256832:exon10:c.G448A:p.E150K;ENSG00000049759:ENST00000431212:exon9:c.G448A:p.E150K;ENSG00000049759:ENST00000356462:exon10:c.G811A:p.E271K;ENSG00000049759:ENST00000400345:exon10:c.G811A:p.E271K;ENSG00000049759:ENST00000586263:exon10:c.G787A:p.E263K;ENSG00000049759:ENST00000586268:exon8:c.G448A:p.E150K;	0.324261090324283	0.462
18	55996357	G	C	18	58329125	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G787C:p.E263Q;NEDD4L:NM_001144964:exon10:c.G448C:p.E150Q;NEDD4L:NM_015277:exon10:c.G811C:p.E271Q;NEDD4L:NM_001144967:exon10:c.G811C:p.E271Q;NEDD4L:NM_001144971:exon11:c.G448C:p.E150Q;NEDD4L:NM_001144968:exon10:c.G787C:p.E263Q;NEDD4L:NM_001144970:exon9:c.G448C:p.E150Q;NEDD4L:NM_001144965:exon10:c.G448C:p.E150Q;NEDD4L:NM_001144966:exon9:c.G448C:p.E150Q;NEDD4L:NM_001243960:exon10:c.G811C:p.E271Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G313C:p.E105Q;ENSG00000049759:ENST00000435432:exon11:c.G448C:p.E150Q;ENSG00000049759:ENST00000382850:exon10:c.G811C:p.E271Q;ENSG00000049759:ENST00000456986:exon10:c.G448C:p.E150Q;ENSG00000049759:ENST00000256830:exon10:c.G811C:p.E271Q;ENSG00000049759:ENST00000456173:exon9:c.G448C:p.E150Q;ENSG00000049759:ENST00000357895:exon10:c.G787C:p.E263Q;ENSG00000049759:ENST00000256832:exon10:c.G448C:p.E150Q;ENSG00000049759:ENST00000431212:exon9:c.G448C:p.E150Q;ENSG00000049759:ENST00000356462:exon10:c.G811C:p.E271Q;ENSG00000049759:ENST00000400345:exon10:c.G811C:p.E271Q;ENSG00000049759:ENST00000586263:exon10:c.G787C:p.E263Q;ENSG00000049759:ENST00000586268:exon8:c.G448C:p.E150Q;	0.0285802447558242	0.232
18	55996357	G	T	18	58329125	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon10:c.G787T:p.E263X;NEDD4L:NM_001144964:exon10:c.G448T:p.E150X;NEDD4L:NM_015277:exon10:c.G811T:p.E271X;NEDD4L:NM_001144967:exon10:c.G811T:p.E271X;NEDD4L:NM_001144971:exon11:c.G448T:p.E150X;NEDD4L:NM_001144968:exon10:c.G787T:p.E263X;NEDD4L:NM_001144970:exon9:c.G448T:p.E150X;NEDD4L:NM_001144965:exon10:c.G448T:p.E150X;NEDD4L:NM_001144966:exon9:c.G448T:p.E150X;NEDD4L:NM_001243960:exon10:c.G811T:p.E271X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon3:c.G313T:p.E105X;ENSG00000049759:ENST00000435432:exon11:c.G448T:p.E150X;ENSG00000049759:ENST00000382850:exon10:c.G811T:p.E271X;ENSG00000049759:ENST00000456986:exon10:c.G448T:p.E150X;ENSG00000049759:ENST00000256830:exon10:c.G811T:p.E271X;ENSG00000049759:ENST00000456173:exon9:c.G448T:p.E150X;ENSG00000049759:ENST00000357895:exon10:c.G787T:p.E263X;ENSG00000049759:ENST00000256832:exon10:c.G448T:p.E150X;ENSG00000049759:ENST00000431212:exon9:c.G448T:p.E150X;ENSG00000049759:ENST00000356462:exon10:c.G811T:p.E271X;ENSG00000049759:ENST00000400345:exon10:c.G811T:p.E271X;ENSG00000049759:ENST00000586263:exon10:c.G787T:p.E263X;ENSG00000049759:ENST00000586268:exon8:c.G448T:p.E150X;	0.378800799750315	0.62
18	55996358	A	C	18	58329126	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.A788C:p.E263A;NEDD4L:NM_001144964:exon10:c.A449C:p.E150A;NEDD4L:NM_015277:exon10:c.A812C:p.E271A;NEDD4L:NM_001144967:exon10:c.A812C:p.E271A;NEDD4L:NM_001144971:exon11:c.A449C:p.E150A;NEDD4L:NM_001144968:exon10:c.A788C:p.E263A;NEDD4L:NM_001144970:exon9:c.A449C:p.E150A;NEDD4L:NM_001144965:exon10:c.A449C:p.E150A;NEDD4L:NM_001144966:exon9:c.A449C:p.E150A;NEDD4L:NM_001243960:exon10:c.A812C:p.E271A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.A314C:p.E105A;ENSG00000049759:ENST00000435432:exon11:c.A449C:p.E150A;ENSG00000049759:ENST00000382850:exon10:c.A812C:p.E271A;ENSG00000049759:ENST00000456986:exon10:c.A449C:p.E150A;ENSG00000049759:ENST00000256830:exon10:c.A812C:p.E271A;ENSG00000049759:ENST00000456173:exon9:c.A449C:p.E150A;ENSG00000049759:ENST00000357895:exon10:c.A788C:p.E263A;ENSG00000049759:ENST00000256832:exon10:c.A449C:p.E150A;ENSG00000049759:ENST00000431212:exon9:c.A449C:p.E150A;ENSG00000049759:ENST00000356462:exon10:c.A812C:p.E271A;ENSG00000049759:ENST00000400345:exon10:c.A812C:p.E271A;ENSG00000049759:ENST00000586263:exon10:c.A788C:p.E263A;ENSG00000049759:ENST00000586268:exon8:c.A449C:p.E150A;	0.996807773611176	0.954
18	55996358	A	G	18	58329126	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.A788G:p.E263G;NEDD4L:NM_001144964:exon10:c.A449G:p.E150G;NEDD4L:NM_015277:exon10:c.A812G:p.E271G;NEDD4L:NM_001144967:exon10:c.A812G:p.E271G;NEDD4L:NM_001144971:exon11:c.A449G:p.E150G;NEDD4L:NM_001144968:exon10:c.A788G:p.E263G;NEDD4L:NM_001144970:exon9:c.A449G:p.E150G;NEDD4L:NM_001144965:exon10:c.A449G:p.E150G;NEDD4L:NM_001144966:exon9:c.A449G:p.E150G;NEDD4L:NM_001243960:exon10:c.A812G:p.E271G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.A314G:p.E105G;ENSG00000049759:ENST00000435432:exon11:c.A449G:p.E150G;ENSG00000049759:ENST00000382850:exon10:c.A812G:p.E271G;ENSG00000049759:ENST00000456986:exon10:c.A449G:p.E150G;ENSG00000049759:ENST00000256830:exon10:c.A812G:p.E271G;ENSG00000049759:ENST00000456173:exon9:c.A449G:p.E150G;ENSG00000049759:ENST00000357895:exon10:c.A788G:p.E263G;ENSG00000049759:ENST00000256832:exon10:c.A449G:p.E150G;ENSG00000049759:ENST00000431212:exon9:c.A449G:p.E150G;ENSG00000049759:ENST00000356462:exon10:c.A812G:p.E271G;ENSG00000049759:ENST00000400345:exon10:c.A812G:p.E271G;ENSG00000049759:ENST00000586263:exon10:c.A788G:p.E263G;ENSG00000049759:ENST00000586268:exon8:c.A449G:p.E150G;	0.999732973912871	0.994
18	55996358	A	T	18	58329126	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.A788T:p.E263V;NEDD4L:NM_001144964:exon10:c.A449T:p.E150V;NEDD4L:NM_015277:exon10:c.A812T:p.E271V;NEDD4L:NM_001144967:exon10:c.A812T:p.E271V;NEDD4L:NM_001144971:exon11:c.A449T:p.E150V;NEDD4L:NM_001144968:exon10:c.A788T:p.E263V;NEDD4L:NM_001144970:exon9:c.A449T:p.E150V;NEDD4L:NM_001144965:exon10:c.A449T:p.E150V;NEDD4L:NM_001144966:exon9:c.A449T:p.E150V;NEDD4L:NM_001243960:exon10:c.A812T:p.E271V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.A314T:p.E105V;ENSG00000049759:ENST00000435432:exon11:c.A449T:p.E150V;ENSG00000049759:ENST00000382850:exon10:c.A812T:p.E271V;ENSG00000049759:ENST00000456986:exon10:c.A449T:p.E150V;ENSG00000049759:ENST00000256830:exon10:c.A812T:p.E271V;ENSG00000049759:ENST00000456173:exon9:c.A449T:p.E150V;ENSG00000049759:ENST00000357895:exon10:c.A788T:p.E263V;ENSG00000049759:ENST00000256832:exon10:c.A449T:p.E150V;ENSG00000049759:ENST00000431212:exon9:c.A449T:p.E150V;ENSG00000049759:ENST00000356462:exon10:c.A812T:p.E271V;ENSG00000049759:ENST00000400345:exon10:c.A812T:p.E271V;ENSG00000049759:ENST00000586263:exon10:c.A788T:p.E263V;ENSG00000049759:ENST00000586268:exon8:c.A449T:p.E150V;	0.99970576302084	0.998
18	55996359	G	A	18	58329127	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon10:c.G789A:p.E263E;NEDD4L:NM_001144964:exon10:c.G450A:p.E150E;NEDD4L:NM_015277:exon10:c.G813A:p.E271E;NEDD4L:NM_001144967:exon10:c.G813A:p.E271E;NEDD4L:NM_001144971:exon11:c.G450A:p.E150E;NEDD4L:NM_001144968:exon10:c.G789A:p.E263E;NEDD4L:NM_001144970:exon9:c.G450A:p.E150E;NEDD4L:NM_001144965:exon10:c.G450A:p.E150E;NEDD4L:NM_001144966:exon9:c.G450A:p.E150E;NEDD4L:NM_001243960:exon10:c.G813A:p.E271E;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G315A:p.E105E;ENSG00000049759:ENST00000435432:exon11:c.G450A:p.E150E;ENSG00000049759:ENST00000382850:exon10:c.G813A:p.E271E;ENSG00000049759:ENST00000456986:exon10:c.G450A:p.E150E;ENSG00000049759:ENST00000256830:exon10:c.G813A:p.E271E;ENSG00000049759:ENST00000456173:exon9:c.G450A:p.E150E;ENSG00000049759:ENST00000357895:exon10:c.G789A:p.E263E;ENSG00000049759:ENST00000256832:exon10:c.G450A:p.E150E;ENSG00000049759:ENST00000431212:exon9:c.G450A:p.E150E;ENSG00000049759:ENST00000356462:exon10:c.G813A:p.E271E;ENSG00000049759:ENST00000400345:exon10:c.G813A:p.E271E;ENSG00000049759:ENST00000586263:exon10:c.G789A:p.E263E;ENSG00000049759:ENST00000586268:exon8:c.G450A:p.E150E;	0.999905764133882	0.976
18	55996359	G	C	18	58329127	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G789C:p.E263D;NEDD4L:NM_001144964:exon10:c.G450C:p.E150D;NEDD4L:NM_015277:exon10:c.G813C:p.E271D;NEDD4L:NM_001144967:exon10:c.G813C:p.E271D;NEDD4L:NM_001144971:exon11:c.G450C:p.E150D;NEDD4L:NM_001144968:exon10:c.G789C:p.E263D;NEDD4L:NM_001144970:exon9:c.G450C:p.E150D;NEDD4L:NM_001144965:exon10:c.G450C:p.E150D;NEDD4L:NM_001144966:exon9:c.G450C:p.E150D;NEDD4L:NM_001243960:exon10:c.G813C:p.E271D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G315C:p.E105D;ENSG00000049759:ENST00000435432:exon11:c.G450C:p.E150D;ENSG00000049759:ENST00000382850:exon10:c.G813C:p.E271D;ENSG00000049759:ENST00000456986:exon10:c.G450C:p.E150D;ENSG00000049759:ENST00000256830:exon10:c.G813C:p.E271D;ENSG00000049759:ENST00000456173:exon9:c.G450C:p.E150D;ENSG00000049759:ENST00000357895:exon10:c.G789C:p.E263D;ENSG00000049759:ENST00000256832:exon10:c.G450C:p.E150D;ENSG00000049759:ENST00000431212:exon9:c.G450C:p.E150D;ENSG00000049759:ENST00000356462:exon10:c.G813C:p.E271D;ENSG00000049759:ENST00000400345:exon10:c.G813C:p.E271D;ENSG00000049759:ENST00000586263:exon10:c.G789C:p.E263D;ENSG00000049759:ENST00000586268:exon8:c.G450C:p.E150D;	0.999998889765944	0.882
18	55996359	G	T	18	58329127	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon10:c.G789T:p.E263D;NEDD4L:NM_001144964:exon10:c.G450T:p.E150D;NEDD4L:NM_015277:exon10:c.G813T:p.E271D;NEDD4L:NM_001144967:exon10:c.G813T:p.E271D;NEDD4L:NM_001144971:exon11:c.G450T:p.E150D;NEDD4L:NM_001144968:exon10:c.G789T:p.E263D;NEDD4L:NM_001144970:exon9:c.G450T:p.E150D;NEDD4L:NM_001144965:exon10:c.G450T:p.E150D;NEDD4L:NM_001144966:exon9:c.G450T:p.E150D;NEDD4L:NM_001243960:exon10:c.G813T:p.E271D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon3:c.G315T:p.E105D;ENSG00000049759:ENST00000435432:exon11:c.G450T:p.E150D;ENSG00000049759:ENST00000382850:exon10:c.G813T:p.E271D;ENSG00000049759:ENST00000456986:exon10:c.G450T:p.E150D;ENSG00000049759:ENST00000256830:exon10:c.G813T:p.E271D;ENSG00000049759:ENST00000456173:exon9:c.G450T:p.E150D;ENSG00000049759:ENST00000357895:exon10:c.G789T:p.E263D;ENSG00000049759:ENST00000256832:exon10:c.G450T:p.E150D;ENSG00000049759:ENST00000431212:exon9:c.G450T:p.E150D;ENSG00000049759:ENST00000356462:exon10:c.G813T:p.E271D;ENSG00000049759:ENST00000400345:exon10:c.G813T:p.E271D;ENSG00000049759:ENST00000586263:exon10:c.G789T:p.E263D;ENSG00000049759:ENST00000586268:exon8:c.G450T:p.E150D;	0.999971201161438	0.978
18	55996360	G	A	18	58329128	y	y	splicing	NEDD4L(NM_001144967:exon10:c.813+1G>A;NM_001243960:exon10:c.813+1G>A;NM_015277:exon10:c.813+1G>A;NM_001144964:exon10:c.450+1G>A;NM_001144968:exon10:c.789+1G>A;NM_001144965:exon10:c.450+1G>A;NM_001144971:exon11:c.450+1G>A;NM_001144969:exon10:c.789+1G>A;NM_001144970:exon9:c.450+1G>A;NM_001144966:exon9:c.450+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.813+1G>A;ENST00000400345:exon10:c.813+1G>A;ENST00000256832:exon10:c.450+1G>A;ENST00000382850:exon10:c.813+1G>A;ENST00000256830:exon10:c.813+1G>A;ENST00000456986:exon10:c.450+1G>A;ENST00000357895:exon10:c.789+1G>A;ENST00000435432:exon11:c.450+1G>A;ENST00000586263:exon10:c.789+1G>A;ENST00000456173:exon9:c.450+1G>A;ENST00000431212:exon9:c.450+1G>A;ENST00000587881:exon3:c.315+1G>A)	.	.	0.999990361384395	0.938
18	55996360	G	C	18	58329128	y	y	splicing	NEDD4L(NM_001144967:exon10:c.813+1G>C;NM_001243960:exon10:c.813+1G>C;NM_015277:exon10:c.813+1G>C;NM_001144964:exon10:c.450+1G>C;NM_001144968:exon10:c.789+1G>C;NM_001144965:exon10:c.450+1G>C;NM_001144971:exon11:c.450+1G>C;NM_001144969:exon10:c.789+1G>C;NM_001144970:exon9:c.450+1G>C;NM_001144966:exon9:c.450+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.813+1G>C;ENST00000400345:exon10:c.813+1G>C;ENST00000256832:exon10:c.450+1G>C;ENST00000382850:exon10:c.813+1G>C;ENST00000256830:exon10:c.813+1G>C;ENST00000456986:exon10:c.450+1G>C;ENST00000357895:exon10:c.789+1G>C;ENST00000435432:exon11:c.450+1G>C;ENST00000586263:exon10:c.789+1G>C;ENST00000456173:exon9:c.450+1G>C;ENST00000431212:exon9:c.450+1G>C;ENST00000587881:exon3:c.315+1G>C)	.	.	0.999990361384395	0.938
18	55996360	G	T	18	58329128	y	y	splicing	NEDD4L(NM_001144967:exon10:c.813+1G>T;NM_001243960:exon10:c.813+1G>T;NM_015277:exon10:c.813+1G>T;NM_001144964:exon10:c.450+1G>T;NM_001144968:exon10:c.789+1G>T;NM_001144965:exon10:c.450+1G>T;NM_001144971:exon11:c.450+1G>T;NM_001144969:exon10:c.789+1G>T;NM_001144970:exon9:c.450+1G>T;NM_001144966:exon9:c.450+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.813+1G>T;ENST00000400345:exon10:c.813+1G>T;ENST00000256832:exon10:c.450+1G>T;ENST00000382850:exon10:c.813+1G>T;ENST00000256830:exon10:c.813+1G>T;ENST00000456986:exon10:c.450+1G>T;ENST00000357895:exon10:c.789+1G>T;ENST00000435432:exon11:c.450+1G>T;ENST00000586263:exon10:c.789+1G>T;ENST00000456173:exon9:c.450+1G>T;ENST00000431212:exon9:c.450+1G>T;ENST00000587881:exon3:c.315+1G>T)	.	.	0.999990361384395	0.938
18	55996361	T	A	18	58329129	y	y	splicing	NEDD4L(NM_001144967:exon10:c.813+2T>A;NM_001243960:exon10:c.813+2T>A;NM_015277:exon10:c.813+2T>A;NM_001144964:exon10:c.450+2T>A;NM_001144968:exon10:c.789+2T>A;NM_001144965:exon10:c.450+2T>A;NM_001144971:exon11:c.450+2T>A;NM_001144969:exon10:c.789+2T>A;NM_001144970:exon9:c.450+2T>A;NM_001144966:exon9:c.450+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.813+2T>A;ENST00000400345:exon10:c.813+2T>A;ENST00000256832:exon10:c.450+2T>A;ENST00000382850:exon10:c.813+2T>A;ENST00000256830:exon10:c.813+2T>A;ENST00000456986:exon10:c.450+2T>A;ENST00000357895:exon10:c.789+2T>A;ENST00000435432:exon11:c.450+2T>A;ENST00000586263:exon10:c.789+2T>A;ENST00000456173:exon9:c.450+2T>A;ENST00000431212:exon9:c.450+2T>A;ENST00000587881:exon3:c.315+2T>A)	.	.	0.999988247793601	0.93
18	55996361	T	C	18	58329129	y	y	splicing	NEDD4L(NM_001144967:exon10:c.813+2T>C;NM_001243960:exon10:c.813+2T>C;NM_015277:exon10:c.813+2T>C;NM_001144964:exon10:c.450+2T>C;NM_001144968:exon10:c.789+2T>C;NM_001144965:exon10:c.450+2T>C;NM_001144971:exon11:c.450+2T>C;NM_001144969:exon10:c.789+2T>C;NM_001144970:exon9:c.450+2T>C;NM_001144966:exon9:c.450+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.813+2T>C;ENST00000400345:exon10:c.813+2T>C;ENST00000256832:exon10:c.450+2T>C;ENST00000382850:exon10:c.813+2T>C;ENST00000256830:exon10:c.813+2T>C;ENST00000456986:exon10:c.450+2T>C;ENST00000357895:exon10:c.789+2T>C;ENST00000435432:exon11:c.450+2T>C;ENST00000586263:exon10:c.789+2T>C;ENST00000456173:exon9:c.450+2T>C;ENST00000431212:exon9:c.450+2T>C;ENST00000587881:exon3:c.315+2T>C)	.	.	0.996844428608582	0.716
18	55996361	T	G	18	58329129	y	y	splicing	NEDD4L(NM_001144967:exon10:c.813+2T>G;NM_001243960:exon10:c.813+2T>G;NM_015277:exon10:c.813+2T>G;NM_001144964:exon10:c.450+2T>G;NM_001144968:exon10:c.789+2T>G;NM_001144965:exon10:c.450+2T>G;NM_001144971:exon11:c.450+2T>G;NM_001144969:exon10:c.789+2T>G;NM_001144970:exon9:c.450+2T>G;NM_001144966:exon9:c.450+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon10:c.813+2T>G;ENST00000400345:exon10:c.813+2T>G;ENST00000256832:exon10:c.450+2T>G;ENST00000382850:exon10:c.813+2T>G;ENST00000256830:exon10:c.813+2T>G;ENST00000456986:exon10:c.450+2T>G;ENST00000357895:exon10:c.789+2T>G;ENST00000435432:exon11:c.450+2T>G;ENST00000586263:exon10:c.789+2T>G;ENST00000456173:exon9:c.450+2T>G;ENST00000431212:exon9:c.450+2T>G;ENST00000587881:exon3:c.315+2T>G)	.	.	0.999978952611685	0.928
18	55996362	A	C	18	58329130	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999303695203286	0.844
18	55996362	A	G	18	58329130	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.89490911879264	0.574
18	55996362	A	T	18	58329130	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.993769833555789	0.762
18	55996363	C	A	18	58329131	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.47038537649534E-5	0.02
18	55996363	C	G	18	58329131	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.05892396041375E-5	0.014
18	55996363	C	T	18	58329131	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.54989005065883E-5	0.004
18	55996364	G	A	18	58329132	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.994757764190577	0.77
18	55996364	G	C	18	58329132	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.779095636722621	0.542
18	55996364	G	T	18	58329132	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.721235658746633	0.548
18	55996365	A	C	18	58329133	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.23262883555542E-5	0.028
18	55996365	A	G	18	58329133	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.53035475542039E-6	0.0
18	55996365	A	T	18	58329133	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.42295885304728E-5	0.016
18	55996366	T	A	18	58329134	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.99078228179078E-5	0.0
18	55996366	T	C	18	58329134	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.28882565731292E-5	0.0
18	55996366	T	G	18	58329134	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.04860152160254E-5	0.0
18	55996367	G	A	18	58329135	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.68216876595996E-5	0.0
18	55996367	G	C	18	58329135	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.78389654127837E-5	0.0
18	55996367	G	T	18	58329135	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.30477579161392E-5	0.0
18	55997958	C	A	18	58330726	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.22243740298706E-5	0.06
18	55997958	C	G	18	58330726	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.11854995251479E-5	0.156
18	55997958	C	T	18	58330726	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.19785226122903E-5	0.006
18	55997959	T	A	18	58330727	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0134653999049943	0.38
18	55997959	T	C	18	58330727	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.89644110930938E-4	0.208
18	55997959	T	G	18	58330727	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00101876673988219	0.248
18	55997960	T	A	18	58330728	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00636672329021461	0.268
18	55997960	T	C	18	58330728	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.99700193921974E-4	0.056
18	55997960	T	G	18	58330728	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00381474969385602	0.274
18	55997961	C	A	18	58330729	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.12245080742046E-4	0.102
18	55997961	C	G	18	58330729	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.88436576252851E-4	0.13
18	55997961	C	T	18	58330729	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.52874815459303E-5	0.042
18	55997962	T	A	18	58330730	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.2799200984129E-4	0.056
18	55997962	T	C	18	58330730	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.36683729117755E-5	0.006
18	55997962	T	G	18	58330730	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.9904156890485E-4	0.072
18	55997963	C	A	18	58330731	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00236951617675113	0.104
18	55997963	C	G	18	58330731	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.26811696418119E-4	0.086
18	55997963	C	T	18	58330731	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.26556265010668E-5	0.022
18	55997964	T	A	18	58330732	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999373912189351	0.96
18	55997964	T	C	18	58330732	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.16086745945381E-4	0.04
18	55997964	T	G	18	58330732	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00687813212348988	0.218
18	55997965	G	A	18	58330733	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.89974179714892E-5	0.028
18	55997965	G	C	18	58330733	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.26043125431836E-4	0.062
18	55997965	G	T	18	58330733	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.26559241880186E-4	0.116
18	55997966	A	C	18	58330734	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00238142925832617	0.062
18	55997966	A	G	18	58330734	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.56083728964841E-4	0.042
18	55997966	A	T	18	58330734	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0030075491826809	0.074
18	55997967	A	C	18	58330735	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.86538300235714E-4	0.058
18	55997967	A	G	18	58330735	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00658338947072101	0.222
18	55997967	A	T	18	58330735	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.38802895284725E-4	0.058
18	55997968	A	C	18	58330736	y	y	splicing	NEDD4L(NM_001144967:exon11:c.814-2A>C;NM_001243960:exon11:c.814-2A>C;NM_015277:exon11:c.814-2A>C;NM_001144964:exon11:c.451-2A>C;NM_001144968:exon11:c.790-2A>C;NM_001144965:exon11:c.451-2A>C;NM_001144971:exon12:c.451-2A>C;NM_001144969:exon11:c.790-2A>C;NM_001144970:exon10:c.451-2A>C;NM_001144966:exon10:c.451-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.814-2A>C;ENST00000400345:exon11:c.814-2A>C;ENST00000256832:exon11:c.451-2A>C;ENST00000382850:exon11:c.814-2A>C;ENST00000256830:exon11:c.814-2A>C;ENST00000456986:exon11:c.451-2A>C;ENST00000357895:exon11:c.790-2A>C;ENST00000435432:exon12:c.451-2A>C;ENST00000586263:exon11:c.790-2A>C;ENST00000456173:exon10:c.451-2A>C;ENST00000431212:exon10:c.451-2A>C;ENST00000587881:exon4:c.316-2A>C)	.	.	0.999914511980801	0.888
18	55997968	A	G	18	58330736	y	y	splicing	NEDD4L(NM_001144967:exon11:c.814-2A>G;NM_001243960:exon11:c.814-2A>G;NM_015277:exon11:c.814-2A>G;NM_001144964:exon11:c.451-2A>G;NM_001144968:exon11:c.790-2A>G;NM_001144965:exon11:c.451-2A>G;NM_001144971:exon12:c.451-2A>G;NM_001144969:exon11:c.790-2A>G;NM_001144970:exon10:c.451-2A>G;NM_001144966:exon10:c.451-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.814-2A>G;ENST00000400345:exon11:c.814-2A>G;ENST00000256832:exon11:c.451-2A>G;ENST00000382850:exon11:c.814-2A>G;ENST00000256830:exon11:c.814-2A>G;ENST00000456986:exon11:c.451-2A>G;ENST00000357895:exon11:c.790-2A>G;ENST00000435432:exon12:c.451-2A>G;ENST00000586263:exon11:c.790-2A>G;ENST00000456173:exon10:c.451-2A>G;ENST00000431212:exon10:c.451-2A>G;ENST00000587881:exon4:c.316-2A>G)	.	.	0.999914511980801	0.888
18	55997968	A	T	18	58330736	y	y	splicing	NEDD4L(NM_001144967:exon11:c.814-2A>T;NM_001243960:exon11:c.814-2A>T;NM_015277:exon11:c.814-2A>T;NM_001144964:exon11:c.451-2A>T;NM_001144968:exon11:c.790-2A>T;NM_001144965:exon11:c.451-2A>T;NM_001144971:exon12:c.451-2A>T;NM_001144969:exon11:c.790-2A>T;NM_001144970:exon10:c.451-2A>T;NM_001144966:exon10:c.451-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.814-2A>T;ENST00000400345:exon11:c.814-2A>T;ENST00000256832:exon11:c.451-2A>T;ENST00000382850:exon11:c.814-2A>T;ENST00000256830:exon11:c.814-2A>T;ENST00000456986:exon11:c.451-2A>T;ENST00000357895:exon11:c.790-2A>T;ENST00000435432:exon12:c.451-2A>T;ENST00000586263:exon11:c.790-2A>T;ENST00000456173:exon10:c.451-2A>T;ENST00000431212:exon10:c.451-2A>T;ENST00000587881:exon4:c.316-2A>T)	.	.	0.999914511980801	0.888
18	55997969	G	A	18	58330737	y	y	splicing	NEDD4L(NM_001144967:exon11:c.814-1G>A;NM_001243960:exon11:c.814-1G>A;NM_015277:exon11:c.814-1G>A;NM_001144964:exon11:c.451-1G>A;NM_001144968:exon11:c.790-1G>A;NM_001144965:exon11:c.451-1G>A;NM_001144971:exon12:c.451-1G>A;NM_001144969:exon11:c.790-1G>A;NM_001144970:exon10:c.451-1G>A;NM_001144966:exon10:c.451-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.814-1G>A;ENST00000400345:exon11:c.814-1G>A;ENST00000256832:exon11:c.451-1G>A;ENST00000382850:exon11:c.814-1G>A;ENST00000256830:exon11:c.814-1G>A;ENST00000456986:exon11:c.451-1G>A;ENST00000357895:exon11:c.790-1G>A;ENST00000435432:exon12:c.451-1G>A;ENST00000586263:exon11:c.790-1G>A;ENST00000456173:exon10:c.451-1G>A;ENST00000431212:exon10:c.451-1G>A;ENST00000587881:exon4:c.316-1G>A)	.	.	0.999971817005805	0.88
18	55997969	G	C	18	58330737	y	y	splicing	NEDD4L(NM_001144967:exon11:c.814-1G>C;NM_001243960:exon11:c.814-1G>C;NM_015277:exon11:c.814-1G>C;NM_001144964:exon11:c.451-1G>C;NM_001144968:exon11:c.790-1G>C;NM_001144965:exon11:c.451-1G>C;NM_001144971:exon12:c.451-1G>C;NM_001144969:exon11:c.790-1G>C;NM_001144970:exon10:c.451-1G>C;NM_001144966:exon10:c.451-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.814-1G>C;ENST00000400345:exon11:c.814-1G>C;ENST00000256832:exon11:c.451-1G>C;ENST00000382850:exon11:c.814-1G>C;ENST00000256830:exon11:c.814-1G>C;ENST00000456986:exon11:c.451-1G>C;ENST00000357895:exon11:c.790-1G>C;ENST00000435432:exon12:c.451-1G>C;ENST00000586263:exon11:c.790-1G>C;ENST00000456173:exon10:c.451-1G>C;ENST00000431212:exon10:c.451-1G>C;ENST00000587881:exon4:c.316-1G>C)	.	.	0.999971817005805	0.88
18	55997969	G	T	18	58330737	y	y	splicing	NEDD4L(NM_001144967:exon11:c.814-1G>T;NM_001243960:exon11:c.814-1G>T;NM_015277:exon11:c.814-1G>T;NM_001144964:exon11:c.451-1G>T;NM_001144968:exon11:c.790-1G>T;NM_001144965:exon11:c.451-1G>T;NM_001144971:exon12:c.451-1G>T;NM_001144969:exon11:c.790-1G>T;NM_001144970:exon10:c.451-1G>T;NM_001144966:exon10:c.451-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.814-1G>T;ENST00000400345:exon11:c.814-1G>T;ENST00000256832:exon11:c.451-1G>T;ENST00000382850:exon11:c.814-1G>T;ENST00000256830:exon11:c.814-1G>T;ENST00000456986:exon11:c.451-1G>T;ENST00000357895:exon11:c.790-1G>T;ENST00000435432:exon12:c.451-1G>T;ENST00000586263:exon11:c.790-1G>T;ENST00000456173:exon10:c.451-1G>T;ENST00000431212:exon10:c.451-1G>T;ENST00000587881:exon4:c.316-1G>T)	.	.	0.999971817005805	0.88
18	55997970	C	A	18	58330738	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.C790A:p.P264T;NEDD4L:NM_001144964:exon11:c.C451A:p.P151T;NEDD4L:NM_015277:exon11:c.C814A:p.P272T;NEDD4L:NM_001144967:exon11:c.C814A:p.P272T;NEDD4L:NM_001144971:exon12:c.C451A:p.P151T;NEDD4L:NM_001144968:exon11:c.C790A:p.P264T;NEDD4L:NM_001144970:exon10:c.C451A:p.P151T;NEDD4L:NM_001144965:exon11:c.C451A:p.P151T;NEDD4L:NM_001144966:exon10:c.C451A:p.P151T;NEDD4L:NM_001243960:exon11:c.C814A:p.P272T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.C316A:p.P106T;ENSG00000049759:ENST00000435432:exon12:c.C451A:p.P151T;ENSG00000049759:ENST00000382850:exon11:c.C814A:p.P272T;ENSG00000049759:ENST00000456986:exon11:c.C451A:p.P151T;ENSG00000049759:ENST00000256830:exon11:c.C814A:p.P272T;ENSG00000049759:ENST00000456173:exon10:c.C451A:p.P151T;ENSG00000049759:ENST00000357895:exon11:c.C790A:p.P264T;ENSG00000049759:ENST00000256832:exon11:c.C451A:p.P151T;ENSG00000049759:ENST00000431212:exon10:c.C451A:p.P151T;ENSG00000049759:ENST00000356462:exon11:c.C814A:p.P272T;ENSG00000049759:ENST00000400345:exon11:c.C814A:p.P272T;ENSG00000049759:ENST00000586263:exon11:c.C790A:p.P264T;	0.00227124666374216	0.142
18	55997970	C	G	18	58330738	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.C790G:p.P264A;NEDD4L:NM_001144964:exon11:c.C451G:p.P151A;NEDD4L:NM_015277:exon11:c.C814G:p.P272A;NEDD4L:NM_001144967:exon11:c.C814G:p.P272A;NEDD4L:NM_001144971:exon12:c.C451G:p.P151A;NEDD4L:NM_001144968:exon11:c.C790G:p.P264A;NEDD4L:NM_001144970:exon10:c.C451G:p.P151A;NEDD4L:NM_001144965:exon11:c.C451G:p.P151A;NEDD4L:NM_001144966:exon10:c.C451G:p.P151A;NEDD4L:NM_001243960:exon11:c.C814G:p.P272A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.C316G:p.P106A;ENSG00000049759:ENST00000435432:exon12:c.C451G:p.P151A;ENSG00000049759:ENST00000382850:exon11:c.C814G:p.P272A;ENSG00000049759:ENST00000456986:exon11:c.C451G:p.P151A;ENSG00000049759:ENST00000256830:exon11:c.C814G:p.P272A;ENSG00000049759:ENST00000456173:exon10:c.C451G:p.P151A;ENSG00000049759:ENST00000357895:exon11:c.C790G:p.P264A;ENSG00000049759:ENST00000256832:exon11:c.C451G:p.P151A;ENSG00000049759:ENST00000431212:exon10:c.C451G:p.P151A;ENSG00000049759:ENST00000356462:exon11:c.C814G:p.P272A;ENSG00000049759:ENST00000400345:exon11:c.C814G:p.P272A;ENSG00000049759:ENST00000586263:exon11:c.C790G:p.P264A;	0.00218349334927007	0.13
18	55997970	C	T	18	58330738	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.C790T:p.P264S;NEDD4L:NM_001144964:exon11:c.C451T:p.P151S;NEDD4L:NM_015277:exon11:c.C814T:p.P272S;NEDD4L:NM_001144967:exon11:c.C814T:p.P272S;NEDD4L:NM_001144971:exon12:c.C451T:p.P151S;NEDD4L:NM_001144968:exon11:c.C790T:p.P264S;NEDD4L:NM_001144970:exon10:c.C451T:p.P151S;NEDD4L:NM_001144965:exon11:c.C451T:p.P151S;NEDD4L:NM_001144966:exon10:c.C451T:p.P151S;NEDD4L:NM_001243960:exon11:c.C814T:p.P272S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.C316T:p.P106S;ENSG00000049759:ENST00000435432:exon12:c.C451T:p.P151S;ENSG00000049759:ENST00000382850:exon11:c.C814T:p.P272S;ENSG00000049759:ENST00000456986:exon11:c.C451T:p.P151S;ENSG00000049759:ENST00000256830:exon11:c.C814T:p.P272S;ENSG00000049759:ENST00000456173:exon10:c.C451T:p.P151S;ENSG00000049759:ENST00000357895:exon11:c.C790T:p.P264S;ENSG00000049759:ENST00000256832:exon11:c.C451T:p.P151S;ENSG00000049759:ENST00000431212:exon10:c.C451T:p.P151S;ENSG00000049759:ENST00000356462:exon11:c.C814T:p.P272S;ENSG00000049759:ENST00000400345:exon11:c.C814T:p.P272S;ENSG00000049759:ENST00000586263:exon11:c.C790T:p.P264S;	0.00604293782508797	0.208
18	55997971	C	A	18	58330739	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.C791A:p.P264H;NEDD4L:NM_001144964:exon11:c.C452A:p.P151H;NEDD4L:NM_015277:exon11:c.C815A:p.P272H;NEDD4L:NM_001144967:exon11:c.C815A:p.P272H;NEDD4L:NM_001144971:exon12:c.C452A:p.P151H;NEDD4L:NM_001144968:exon11:c.C791A:p.P264H;NEDD4L:NM_001144970:exon10:c.C452A:p.P151H;NEDD4L:NM_001144965:exon11:c.C452A:p.P151H;NEDD4L:NM_001144966:exon10:c.C452A:p.P151H;NEDD4L:NM_001243960:exon11:c.C815A:p.P272H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.C317A:p.P106H;ENSG00000049759:ENST00000435432:exon12:c.C452A:p.P151H;ENSG00000049759:ENST00000382850:exon11:c.C815A:p.P272H;ENSG00000049759:ENST00000456986:exon11:c.C452A:p.P151H;ENSG00000049759:ENST00000256830:exon11:c.C815A:p.P272H;ENSG00000049759:ENST00000456173:exon10:c.C452A:p.P151H;ENSG00000049759:ENST00000357895:exon11:c.C791A:p.P264H;ENSG00000049759:ENST00000256832:exon11:c.C452A:p.P151H;ENSG00000049759:ENST00000431212:exon10:c.C452A:p.P151H;ENSG00000049759:ENST00000356462:exon11:c.C815A:p.P272H;ENSG00000049759:ENST00000400345:exon11:c.C815A:p.P272H;ENSG00000049759:ENST00000586263:exon11:c.C791A:p.P264H;	0.986483888593858	0.786
18	55997971	C	G	18	58330739	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.C791G:p.P264R;NEDD4L:NM_001144964:exon11:c.C452G:p.P151R;NEDD4L:NM_015277:exon11:c.C815G:p.P272R;NEDD4L:NM_001144967:exon11:c.C815G:p.P272R;NEDD4L:NM_001144971:exon12:c.C452G:p.P151R;NEDD4L:NM_001144968:exon11:c.C791G:p.P264R;NEDD4L:NM_001144970:exon10:c.C452G:p.P151R;NEDD4L:NM_001144965:exon11:c.C452G:p.P151R;NEDD4L:NM_001144966:exon10:c.C452G:p.P151R;NEDD4L:NM_001243960:exon11:c.C815G:p.P272R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.C317G:p.P106R;ENSG00000049759:ENST00000435432:exon12:c.C452G:p.P151R;ENSG00000049759:ENST00000382850:exon11:c.C815G:p.P272R;ENSG00000049759:ENST00000456986:exon11:c.C452G:p.P151R;ENSG00000049759:ENST00000256830:exon11:c.C815G:p.P272R;ENSG00000049759:ENST00000456173:exon10:c.C452G:p.P151R;ENSG00000049759:ENST00000357895:exon11:c.C791G:p.P264R;ENSG00000049759:ENST00000256832:exon11:c.C452G:p.P151R;ENSG00000049759:ENST00000431212:exon10:c.C452G:p.P151R;ENSG00000049759:ENST00000356462:exon11:c.C815G:p.P272R;ENSG00000049759:ENST00000400345:exon11:c.C815G:p.P272R;ENSG00000049759:ENST00000586263:exon11:c.C791G:p.P264R;	0.640994208762644	0.52
18	55997971	C	T	18	58330739	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.C791T:p.P264L;NEDD4L:NM_001144964:exon11:c.C452T:p.P151L;NEDD4L:NM_015277:exon11:c.C815T:p.P272L;NEDD4L:NM_001144967:exon11:c.C815T:p.P272L;NEDD4L:NM_001144971:exon12:c.C452T:p.P151L;NEDD4L:NM_001144968:exon11:c.C791T:p.P264L;NEDD4L:NM_001144970:exon10:c.C452T:p.P151L;NEDD4L:NM_001144965:exon11:c.C452T:p.P151L;NEDD4L:NM_001144966:exon10:c.C452T:p.P151L;NEDD4L:NM_001243960:exon11:c.C815T:p.P272L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.C317T:p.P106L;ENSG00000049759:ENST00000435432:exon12:c.C452T:p.P151L;ENSG00000049759:ENST00000382850:exon11:c.C815T:p.P272L;ENSG00000049759:ENST00000456986:exon11:c.C452T:p.P151L;ENSG00000049759:ENST00000256830:exon11:c.C815T:p.P272L;ENSG00000049759:ENST00000456173:exon10:c.C452T:p.P151L;ENSG00000049759:ENST00000357895:exon11:c.C791T:p.P264L;ENSG00000049759:ENST00000256832:exon11:c.C452T:p.P151L;ENSG00000049759:ENST00000431212:exon10:c.C452T:p.P151L;ENSG00000049759:ENST00000356462:exon11:c.C815T:p.P272L;ENSG00000049759:ENST00000400345:exon11:c.C815T:p.P272L;ENSG00000049759:ENST00000586263:exon11:c.C791T:p.P264L;	0.982661933507603	0.836
18	55998144	A	C	18	58330912	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.A964C:p.I322L;NEDD4L:NM_001144964:exon11:c.A625C:p.I209L;NEDD4L:NM_015277:exon11:c.A988C:p.I330L;NEDD4L:NM_001144967:exon11:c.A988C:p.I330L;NEDD4L:NM_001144971:exon12:c.A625C:p.I209L;NEDD4L:NM_001144968:exon11:c.A964C:p.I322L;NEDD4L:NM_001144970:exon10:c.A625C:p.I209L;NEDD4L:NM_001144965:exon11:c.A625C:p.I209L;NEDD4L:NM_001144966:exon10:c.A625C:p.I209L;NEDD4L:NM_001243960:exon11:c.A988C:p.I330L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.A490C:p.I164L;ENSG00000049759:ENST00000435432:exon12:c.A625C:p.I209L;ENSG00000049759:ENST00000382850:exon11:c.A988C:p.I330L;ENSG00000049759:ENST00000456986:exon11:c.A625C:p.I209L;ENSG00000049759:ENST00000256830:exon11:c.A988C:p.I330L;ENSG00000049759:ENST00000456173:exon10:c.A625C:p.I209L;ENSG00000049759:ENST00000357895:exon11:c.A964C:p.I322L;ENSG00000049759:ENST00000256832:exon11:c.A625C:p.I209L;ENSG00000049759:ENST00000431212:exon10:c.A625C:p.I209L;ENSG00000049759:ENST00000356462:exon11:c.A988C:p.I330L;ENSG00000049759:ENST00000400345:exon11:c.A988C:p.I330L;ENSG00000049759:ENST00000586263:exon11:c.A964C:p.I322L;	2.55487770309714E-5	0.048
18	55998144	A	G	18	58330912	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.A964G:p.I322V;NEDD4L:NM_001144964:exon11:c.A625G:p.I209V;NEDD4L:NM_015277:exon11:c.A988G:p.I330V;NEDD4L:NM_001144967:exon11:c.A988G:p.I330V;NEDD4L:NM_001144971:exon12:c.A625G:p.I209V;NEDD4L:NM_001144968:exon11:c.A964G:p.I322V;NEDD4L:NM_001144970:exon10:c.A625G:p.I209V;NEDD4L:NM_001144965:exon11:c.A625G:p.I209V;NEDD4L:NM_001144966:exon10:c.A625G:p.I209V;NEDD4L:NM_001243960:exon11:c.A988G:p.I330V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.A490G:p.I164V;ENSG00000049759:ENST00000435432:exon12:c.A625G:p.I209V;ENSG00000049759:ENST00000382850:exon11:c.A988G:p.I330V;ENSG00000049759:ENST00000456986:exon11:c.A625G:p.I209V;ENSG00000049759:ENST00000256830:exon11:c.A988G:p.I330V;ENSG00000049759:ENST00000456173:exon10:c.A625G:p.I209V;ENSG00000049759:ENST00000357895:exon11:c.A964G:p.I322V;ENSG00000049759:ENST00000256832:exon11:c.A625G:p.I209V;ENSG00000049759:ENST00000431212:exon10:c.A625G:p.I209V;ENSG00000049759:ENST00000356462:exon11:c.A988G:p.I330V;ENSG00000049759:ENST00000400345:exon11:c.A988G:p.I330V;ENSG00000049759:ENST00000586263:exon11:c.A964G:p.I322V;	1.37110886849027E-5	0.004
18	55998144	A	T	18	58330912	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.A964T:p.I322F;NEDD4L:NM_001144964:exon11:c.A625T:p.I209F;NEDD4L:NM_015277:exon11:c.A988T:p.I330F;NEDD4L:NM_001144967:exon11:c.A988T:p.I330F;NEDD4L:NM_001144971:exon12:c.A625T:p.I209F;NEDD4L:NM_001144968:exon11:c.A964T:p.I322F;NEDD4L:NM_001144970:exon10:c.A625T:p.I209F;NEDD4L:NM_001144965:exon11:c.A625T:p.I209F;NEDD4L:NM_001144966:exon10:c.A625T:p.I209F;NEDD4L:NM_001243960:exon11:c.A988T:p.I330F;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.A490T:p.I164F;ENSG00000049759:ENST00000435432:exon12:c.A625T:p.I209F;ENSG00000049759:ENST00000382850:exon11:c.A988T:p.I330F;ENSG00000049759:ENST00000456986:exon11:c.A625T:p.I209F;ENSG00000049759:ENST00000256830:exon11:c.A988T:p.I330F;ENSG00000049759:ENST00000456173:exon10:c.A625T:p.I209F;ENSG00000049759:ENST00000357895:exon11:c.A964T:p.I322F;ENSG00000049759:ENST00000256832:exon11:c.A625T:p.I209F;ENSG00000049759:ENST00000431212:exon10:c.A625T:p.I209F;ENSG00000049759:ENST00000356462:exon11:c.A988T:p.I330F;ENSG00000049759:ENST00000400345:exon11:c.A988T:p.I330F;ENSG00000049759:ENST00000586263:exon11:c.A964T:p.I322F;	0.00542576167000902	0.232
18	55998145	T	A	18	58330913	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.T965A:p.I322N;NEDD4L:NM_001144964:exon11:c.T626A:p.I209N;NEDD4L:NM_015277:exon11:c.T989A:p.I330N;NEDD4L:NM_001144967:exon11:c.T989A:p.I330N;NEDD4L:NM_001144971:exon12:c.T626A:p.I209N;NEDD4L:NM_001144968:exon11:c.T965A:p.I322N;NEDD4L:NM_001144970:exon10:c.T626A:p.I209N;NEDD4L:NM_001144965:exon11:c.T626A:p.I209N;NEDD4L:NM_001144966:exon10:c.T626A:p.I209N;NEDD4L:NM_001243960:exon11:c.T989A:p.I330N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.T491A:p.I164N;ENSG00000049759:ENST00000435432:exon12:c.T626A:p.I209N;ENSG00000049759:ENST00000382850:exon11:c.T989A:p.I330N;ENSG00000049759:ENST00000456986:exon11:c.T626A:p.I209N;ENSG00000049759:ENST00000256830:exon11:c.T989A:p.I330N;ENSG00000049759:ENST00000456173:exon10:c.T626A:p.I209N;ENSG00000049759:ENST00000357895:exon11:c.T965A:p.I322N;ENSG00000049759:ENST00000256832:exon11:c.T626A:p.I209N;ENSG00000049759:ENST00000431212:exon10:c.T626A:p.I209N;ENSG00000049759:ENST00000356462:exon11:c.T989A:p.I330N;ENSG00000049759:ENST00000400345:exon11:c.T989A:p.I330N;ENSG00000049759:ENST00000586263:exon11:c.T965A:p.I322N;	0.0830254645473344	0.328
18	55998145	T	C	18	58330913	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.T965C:p.I322T;NEDD4L:NM_001144964:exon11:c.T626C:p.I209T;NEDD4L:NM_015277:exon11:c.T989C:p.I330T;NEDD4L:NM_001144967:exon11:c.T989C:p.I330T;NEDD4L:NM_001144971:exon12:c.T626C:p.I209T;NEDD4L:NM_001144968:exon11:c.T965C:p.I322T;NEDD4L:NM_001144970:exon10:c.T626C:p.I209T;NEDD4L:NM_001144965:exon11:c.T626C:p.I209T;NEDD4L:NM_001144966:exon10:c.T626C:p.I209T;NEDD4L:NM_001243960:exon11:c.T989C:p.I330T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.T491C:p.I164T;ENSG00000049759:ENST00000435432:exon12:c.T626C:p.I209T;ENSG00000049759:ENST00000382850:exon11:c.T989C:p.I330T;ENSG00000049759:ENST00000456986:exon11:c.T626C:p.I209T;ENSG00000049759:ENST00000256830:exon11:c.T989C:p.I330T;ENSG00000049759:ENST00000456173:exon10:c.T626C:p.I209T;ENSG00000049759:ENST00000357895:exon11:c.T965C:p.I322T;ENSG00000049759:ENST00000256832:exon11:c.T626C:p.I209T;ENSG00000049759:ENST00000431212:exon10:c.T626C:p.I209T;ENSG00000049759:ENST00000356462:exon11:c.T989C:p.I330T;ENSG00000049759:ENST00000400345:exon11:c.T989C:p.I330T;ENSG00000049759:ENST00000586263:exon11:c.T965C:p.I322T;	0.0302719738540194	0.118
18	55998145	T	G	18	58330913	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.T965G:p.I322S;NEDD4L:NM_001144964:exon11:c.T626G:p.I209S;NEDD4L:NM_015277:exon11:c.T989G:p.I330S;NEDD4L:NM_001144967:exon11:c.T989G:p.I330S;NEDD4L:NM_001144971:exon12:c.T626G:p.I209S;NEDD4L:NM_001144968:exon11:c.T965G:p.I322S;NEDD4L:NM_001144970:exon10:c.T626G:p.I209S;NEDD4L:NM_001144965:exon11:c.T626G:p.I209S;NEDD4L:NM_001144966:exon10:c.T626G:p.I209S;NEDD4L:NM_001243960:exon11:c.T989G:p.I330S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.T491G:p.I164S;ENSG00000049759:ENST00000435432:exon12:c.T626G:p.I209S;ENSG00000049759:ENST00000382850:exon11:c.T989G:p.I330S;ENSG00000049759:ENST00000456986:exon11:c.T626G:p.I209S;ENSG00000049759:ENST00000256830:exon11:c.T989G:p.I330S;ENSG00000049759:ENST00000456173:exon10:c.T626G:p.I209S;ENSG00000049759:ENST00000357895:exon11:c.T965G:p.I322S;ENSG00000049759:ENST00000256832:exon11:c.T626G:p.I209S;ENSG00000049759:ENST00000431212:exon10:c.T626G:p.I209S;ENSG00000049759:ENST00000356462:exon11:c.T989G:p.I330S;ENSG00000049759:ENST00000400345:exon11:c.T989G:p.I330S;ENSG00000049759:ENST00000586263:exon11:c.T965G:p.I322S;	0.0335301265061251	0.238
18	55998146	T	A	18	58330914	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon11:c.T966A:p.I322I;NEDD4L:NM_001144964:exon11:c.T627A:p.I209I;NEDD4L:NM_015277:exon11:c.T990A:p.I330I;NEDD4L:NM_001144967:exon11:c.T990A:p.I330I;NEDD4L:NM_001144971:exon12:c.T627A:p.I209I;NEDD4L:NM_001144968:exon11:c.T966A:p.I322I;NEDD4L:NM_001144970:exon10:c.T627A:p.I209I;NEDD4L:NM_001144965:exon11:c.T627A:p.I209I;NEDD4L:NM_001144966:exon10:c.T627A:p.I209I;NEDD4L:NM_001243960:exon11:c.T990A:p.I330I;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.T492A:p.I164I;ENSG00000049759:ENST00000435432:exon12:c.T627A:p.I209I;ENSG00000049759:ENST00000382850:exon11:c.T990A:p.I330I;ENSG00000049759:ENST00000456986:exon11:c.T627A:p.I209I;ENSG00000049759:ENST00000256830:exon11:c.T990A:p.I330I;ENSG00000049759:ENST00000456173:exon10:c.T627A:p.I209I;ENSG00000049759:ENST00000357895:exon11:c.T966A:p.I322I;ENSG00000049759:ENST00000256832:exon11:c.T627A:p.I209I;ENSG00000049759:ENST00000431212:exon10:c.T627A:p.I209I;ENSG00000049759:ENST00000356462:exon11:c.T990A:p.I330I;ENSG00000049759:ENST00000400345:exon11:c.T990A:p.I330I;ENSG00000049759:ENST00000586263:exon11:c.T966A:p.I322I;	1.15378063369551E-4	0.01
18	55998146	T	C	18	58330914	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon11:c.T966C:p.I322I;NEDD4L:NM_001144964:exon11:c.T627C:p.I209I;NEDD4L:NM_015277:exon11:c.T990C:p.I330I;NEDD4L:NM_001144967:exon11:c.T990C:p.I330I;NEDD4L:NM_001144971:exon12:c.T627C:p.I209I;NEDD4L:NM_001144968:exon11:c.T966C:p.I322I;NEDD4L:NM_001144970:exon10:c.T627C:p.I209I;NEDD4L:NM_001144965:exon11:c.T627C:p.I209I;NEDD4L:NM_001144966:exon10:c.T627C:p.I209I;NEDD4L:NM_001243960:exon11:c.T990C:p.I330I;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.T492C:p.I164I;ENSG00000049759:ENST00000435432:exon12:c.T627C:p.I209I;ENSG00000049759:ENST00000382850:exon11:c.T990C:p.I330I;ENSG00000049759:ENST00000456986:exon11:c.T627C:p.I209I;ENSG00000049759:ENST00000256830:exon11:c.T990C:p.I330I;ENSG00000049759:ENST00000456173:exon10:c.T627C:p.I209I;ENSG00000049759:ENST00000357895:exon11:c.T966C:p.I322I;ENSG00000049759:ENST00000256832:exon11:c.T627C:p.I209I;ENSG00000049759:ENST00000431212:exon10:c.T627C:p.I209I;ENSG00000049759:ENST00000356462:exon11:c.T990C:p.I330I;ENSG00000049759:ENST00000400345:exon11:c.T990C:p.I330I;ENSG00000049759:ENST00000586263:exon11:c.T966C:p.I322I;	0.00126551030944219	0.334
18	55998146	T	G	18	58330914	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon11:c.T966G:p.I322M;NEDD4L:NM_001144964:exon11:c.T627G:p.I209M;NEDD4L:NM_015277:exon11:c.T990G:p.I330M;NEDD4L:NM_001144967:exon11:c.T990G:p.I330M;NEDD4L:NM_001144971:exon12:c.T627G:p.I209M;NEDD4L:NM_001144968:exon11:c.T966G:p.I322M;NEDD4L:NM_001144970:exon10:c.T627G:p.I209M;NEDD4L:NM_001144965:exon11:c.T627G:p.I209M;NEDD4L:NM_001144966:exon10:c.T627G:p.I209M;NEDD4L:NM_001243960:exon11:c.T990G:p.I330M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon4:c.T492G:p.I164M;ENSG00000049759:ENST00000435432:exon12:c.T627G:p.I209M;ENSG00000049759:ENST00000382850:exon11:c.T990G:p.I330M;ENSG00000049759:ENST00000456986:exon11:c.T627G:p.I209M;ENSG00000049759:ENST00000256830:exon11:c.T990G:p.I330M;ENSG00000049759:ENST00000456173:exon10:c.T627G:p.I209M;ENSG00000049759:ENST00000357895:exon11:c.T966G:p.I322M;ENSG00000049759:ENST00000256832:exon11:c.T627G:p.I209M;ENSG00000049759:ENST00000431212:exon10:c.T627G:p.I209M;ENSG00000049759:ENST00000356462:exon11:c.T990G:p.I330M;ENSG00000049759:ENST00000400345:exon11:c.T990G:p.I330M;ENSG00000049759:ENST00000586263:exon11:c.T966G:p.I322M;	5.90077887877339E-5	0.046
18	55998147	G	A	18	58330915	y	y	splicing	NEDD4L(NM_001144967:exon11:c.990+1G>A;NM_001243960:exon11:c.990+1G>A;NM_015277:exon11:c.990+1G>A;NM_001144964:exon11:c.627+1G>A;NM_001144968:exon11:c.966+1G>A;NM_001144965:exon11:c.627+1G>A;NM_001144971:exon12:c.627+1G>A;NM_001144969:exon11:c.966+1G>A;NM_001144970:exon10:c.627+1G>A;NM_001144966:exon10:c.627+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.990+1G>A;ENST00000400345:exon11:c.990+1G>A;ENST00000256832:exon11:c.627+1G>A;ENST00000382850:exon11:c.990+1G>A;ENST00000256830:exon11:c.990+1G>A;ENST00000456986:exon11:c.627+1G>A;ENST00000357895:exon11:c.966+1G>A;ENST00000435432:exon12:c.627+1G>A;ENST00000586263:exon11:c.966+1G>A;ENST00000456173:exon10:c.627+1G>A;ENST00000431212:exon10:c.627+1G>A;ENST00000587881:exon4:c.492+1G>A)	.	.	0.999990361384395	0.938
18	55998147	G	C	18	58330915	y	y	splicing	NEDD4L(NM_001144967:exon11:c.990+1G>C;NM_001243960:exon11:c.990+1G>C;NM_015277:exon11:c.990+1G>C;NM_001144964:exon11:c.627+1G>C;NM_001144968:exon11:c.966+1G>C;NM_001144965:exon11:c.627+1G>C;NM_001144971:exon12:c.627+1G>C;NM_001144969:exon11:c.966+1G>C;NM_001144970:exon10:c.627+1G>C;NM_001144966:exon10:c.627+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.990+1G>C;ENST00000400345:exon11:c.990+1G>C;ENST00000256832:exon11:c.627+1G>C;ENST00000382850:exon11:c.990+1G>C;ENST00000256830:exon11:c.990+1G>C;ENST00000456986:exon11:c.627+1G>C;ENST00000357895:exon11:c.966+1G>C;ENST00000435432:exon12:c.627+1G>C;ENST00000586263:exon11:c.966+1G>C;ENST00000456173:exon10:c.627+1G>C;ENST00000431212:exon10:c.627+1G>C;ENST00000587881:exon4:c.492+1G>C)	.	.	0.999990361384395	0.938
18	55998147	G	T	18	58330915	y	y	splicing	NEDD4L(NM_001144967:exon11:c.990+1G>T;NM_001243960:exon11:c.990+1G>T;NM_015277:exon11:c.990+1G>T;NM_001144964:exon11:c.627+1G>T;NM_001144968:exon11:c.966+1G>T;NM_001144965:exon11:c.627+1G>T;NM_001144971:exon12:c.627+1G>T;NM_001144969:exon11:c.966+1G>T;NM_001144970:exon10:c.627+1G>T;NM_001144966:exon10:c.627+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.990+1G>T;ENST00000400345:exon11:c.990+1G>T;ENST00000256832:exon11:c.627+1G>T;ENST00000382850:exon11:c.990+1G>T;ENST00000256830:exon11:c.990+1G>T;ENST00000456986:exon11:c.627+1G>T;ENST00000357895:exon11:c.966+1G>T;ENST00000435432:exon12:c.627+1G>T;ENST00000586263:exon11:c.966+1G>T;ENST00000456173:exon10:c.627+1G>T;ENST00000431212:exon10:c.627+1G>T;ENST00000587881:exon4:c.492+1G>T)	.	.	0.999990361384395	0.938
18	55998148	T	A	18	58330916	y	y	splicing	NEDD4L(NM_001144967:exon11:c.990+2T>A;NM_001243960:exon11:c.990+2T>A;NM_015277:exon11:c.990+2T>A;NM_001144964:exon11:c.627+2T>A;NM_001144968:exon11:c.966+2T>A;NM_001144965:exon11:c.627+2T>A;NM_001144971:exon12:c.627+2T>A;NM_001144969:exon11:c.966+2T>A;NM_001144970:exon10:c.627+2T>A;NM_001144966:exon10:c.627+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.990+2T>A;ENST00000400345:exon11:c.990+2T>A;ENST00000256832:exon11:c.627+2T>A;ENST00000382850:exon11:c.990+2T>A;ENST00000256830:exon11:c.990+2T>A;ENST00000456986:exon11:c.627+2T>A;ENST00000357895:exon11:c.966+2T>A;ENST00000435432:exon12:c.627+2T>A;ENST00000586263:exon11:c.966+2T>A;ENST00000456173:exon10:c.627+2T>A;ENST00000431212:exon10:c.627+2T>A;ENST00000587881:exon4:c.492+2T>A)	.	.	0.999988247793601	0.93
18	55998148	T	C	18	58330916	y	y	splicing	NEDD4L(NM_001144967:exon11:c.990+2T>C;NM_001243960:exon11:c.990+2T>C;NM_015277:exon11:c.990+2T>C;NM_001144964:exon11:c.627+2T>C;NM_001144968:exon11:c.966+2T>C;NM_001144965:exon11:c.627+2T>C;NM_001144971:exon12:c.627+2T>C;NM_001144969:exon11:c.966+2T>C;NM_001144970:exon10:c.627+2T>C;NM_001144966:exon10:c.627+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.990+2T>C;ENST00000400345:exon11:c.990+2T>C;ENST00000256832:exon11:c.627+2T>C;ENST00000382850:exon11:c.990+2T>C;ENST00000256830:exon11:c.990+2T>C;ENST00000456986:exon11:c.627+2T>C;ENST00000357895:exon11:c.966+2T>C;ENST00000435432:exon12:c.627+2T>C;ENST00000586263:exon11:c.966+2T>C;ENST00000456173:exon10:c.627+2T>C;ENST00000431212:exon10:c.627+2T>C;ENST00000587881:exon4:c.492+2T>C)	.	.	0.99340600729494	0.666
18	55998148	T	G	18	58330916	y	y	splicing	NEDD4L(NM_001144967:exon11:c.990+2T>G;NM_001243960:exon11:c.990+2T>G;NM_015277:exon11:c.990+2T>G;NM_001144964:exon11:c.627+2T>G;NM_001144968:exon11:c.966+2T>G;NM_001144965:exon11:c.627+2T>G;NM_001144971:exon12:c.627+2T>G;NM_001144969:exon11:c.966+2T>G;NM_001144970:exon10:c.627+2T>G;NM_001144966:exon10:c.627+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon11:c.990+2T>G;ENST00000400345:exon11:c.990+2T>G;ENST00000256832:exon11:c.627+2T>G;ENST00000382850:exon11:c.990+2T>G;ENST00000256830:exon11:c.990+2T>G;ENST00000456986:exon11:c.627+2T>G;ENST00000357895:exon11:c.966+2T>G;ENST00000435432:exon12:c.627+2T>G;ENST00000586263:exon11:c.966+2T>G;ENST00000456173:exon10:c.627+2T>G;ENST00000431212:exon10:c.627+2T>G;ENST00000587881:exon4:c.492+2T>G)	.	.	0.999988247793601	0.93
18	55998149	A	C	18	58330917	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999684000378506	0.93
18	55998149	A	G	18	58330917	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.626049133033475	0.508
18	55998149	A	T	18	58330917	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999747536786233	0.954
18	55998150	A	C	18	58330918	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998597409757269	0.892
18	55998150	A	G	18	58330918	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.990964406528811	0.95
18	55998150	A	T	18	58330918	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998125611557205	0.952
18	55998151	G	A	18	58330919	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999958396860829	0.988
18	55998151	G	C	18	58330919	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999989138120957	0.932
18	55998151	G	T	18	58330919	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999960686667278	0.99
18	55998152	T	A	18	58330920	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.986576119143226	0.678
18	55998152	T	C	18	58330920	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.96715678061984	0.68
18	55998152	T	G	18	58330920	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.989224442016478	0.74
18	55998153	A	C	18	58330921	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.67188300169153E-4	0.022
18	55998153	A	G	18	58330921	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.6276220982096E-4	0.026
18	55998153	A	T	18	58330921	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.29910942963635E-4	0.144
18	55998154	G	A	18	58330922	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.96447203158944E-4	0.004
18	55998154	G	C	18	58330922	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.57438823161714E-4	0.002
18	55998154	G	T	18	58330922	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.80226767574541E-5	0.0
18	56001038	C	A	18	58333806	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.3636776709669E-4	0.014
18	56001038	C	G	18	58333806	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.52360507580253E-4	0.008
18	56001038	C	T	18	58333806	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.55955572115086E-5	0.0
18	56001039	T	A	18	58333807	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0206937150035354	0.246
18	56001039	T	C	18	58333807	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00221678903455439	0.124
18	56001039	T	G	18	58333807	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0253020153899284	0.242
18	56001040	C	A	18	58333808	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00117963929172337	0.064
18	56001040	C	G	18	58333808	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00129437872153416	0.038
18	56001040	C	T	18	58333808	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.29448637569301E-5	0.0
18	56001041	T	A	18	58333809	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.65310611232624E-4	0.058
18	56001041	T	C	18	58333809	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.60655318769134E-5	0.0
18	56001041	T	G	18	58333809	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.28008803180469E-4	0.032
18	56001042	C	A	18	58333810	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00237114960979738	0.052
18	56001042	C	G	18	58333810	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.11178238539002E-4	0.13
18	56001042	C	T	18	58333810	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.43077187904118E-5	0.002
18	56001043	C	A	18	58333811	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00102792640082975	0.074
18	56001043	C	G	18	58333811	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.34920740036632E-4	0.026
18	56001043	C	T	18	58333811	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.13656709680048E-5	0.0
18	56001044	T	A	18	58333812	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0505999839012607	0.274
18	56001044	T	C	18	58333812	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00188352008522822	0.026
18	56001044	T	G	18	58333812	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.305214188606599	0.278
18	56001045	T	A	18	58333813	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.63726223507269E-4	0.09
18	56001045	T	C	18	58333813	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.25409438009905E-4	0.068
18	56001045	T	G	18	58333813	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00103076398126188	0.084
18	56001046	C	A	18	58333814	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.35213495768674E-5	0.004
18	56001046	C	G	18	58333814	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.64298444257075E-5	0.002
18	56001046	C	T	18	58333814	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.64266728092112E-5	0.004
18	56001047	C	A	18	58333815	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997823236262508	0.794
18	56001047	C	G	18	58333815	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999734312836525	0.96
18	56001047	C	T	18	58333815	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0725809753775344	0.098
18	56001048	A	C	18	58333816	y	y	splicing	NEDD4L(NM_001144967:exon12:c.991-2A>C;NM_001243960:exon12:c.991-2A>C;NM_015277:exon12:c.991-2A>C;NM_001144964:exon12:c.628-2A>C;NM_001144968:exon12:c.967-2A>C;NM_001144965:exon12:c.628-2A>C;NM_001144971:exon13:c.628-2A>C;NM_001144969:exon12:c.967-2A>C;NM_001144970:exon11:c.628-2A>C;NM_001144966:exon11:c.628-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.991-2A>C;ENST00000400345:exon12:c.991-2A>C;ENST00000256832:exon12:c.628-2A>C;ENST00000382850:exon12:c.991-2A>C;ENST00000256830:exon12:c.991-2A>C;ENST00000456986:exon12:c.628-2A>C;ENST00000357895:exon12:c.967-2A>C;ENST00000435432:exon13:c.628-2A>C;ENST00000586263:exon12:c.967-2A>C;ENST00000456173:exon11:c.628-2A>C;ENST00000431212:exon11:c.628-2A>C;ENST00000587881:exon5:c.493-2A>C)	.	.	0.999988247793601	0.928
18	56001048	A	G	18	58333816	y	y	splicing	NEDD4L(NM_001144967:exon12:c.991-2A>G;NM_001243960:exon12:c.991-2A>G;NM_015277:exon12:c.991-2A>G;NM_001144964:exon12:c.628-2A>G;NM_001144968:exon12:c.967-2A>G;NM_001144965:exon12:c.628-2A>G;NM_001144971:exon13:c.628-2A>G;NM_001144969:exon12:c.967-2A>G;NM_001144970:exon11:c.628-2A>G;NM_001144966:exon11:c.628-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.991-2A>G;ENST00000400345:exon12:c.991-2A>G;ENST00000256832:exon12:c.628-2A>G;ENST00000382850:exon12:c.991-2A>G;ENST00000256830:exon12:c.991-2A>G;ENST00000456986:exon12:c.628-2A>G;ENST00000357895:exon12:c.967-2A>G;ENST00000435432:exon13:c.628-2A>G;ENST00000586263:exon12:c.967-2A>G;ENST00000456173:exon11:c.628-2A>G;ENST00000431212:exon11:c.628-2A>G;ENST00000587881:exon5:c.493-2A>G)	.	.	0.999988247793601	0.928
18	56001048	A	T	18	58333816	y	y	splicing	NEDD4L(NM_001144967:exon12:c.991-2A>T;NM_001243960:exon12:c.991-2A>T;NM_015277:exon12:c.991-2A>T;NM_001144964:exon12:c.628-2A>T;NM_001144968:exon12:c.967-2A>T;NM_001144965:exon12:c.628-2A>T;NM_001144971:exon13:c.628-2A>T;NM_001144969:exon12:c.967-2A>T;NM_001144970:exon11:c.628-2A>T;NM_001144966:exon11:c.628-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.991-2A>T;ENST00000400345:exon12:c.991-2A>T;ENST00000256832:exon12:c.628-2A>T;ENST00000382850:exon12:c.991-2A>T;ENST00000256830:exon12:c.991-2A>T;ENST00000456986:exon12:c.628-2A>T;ENST00000357895:exon12:c.967-2A>T;ENST00000435432:exon13:c.628-2A>T;ENST00000586263:exon12:c.967-2A>T;ENST00000456173:exon11:c.628-2A>T;ENST00000431212:exon11:c.628-2A>T;ENST00000587881:exon5:c.493-2A>T)	.	.	0.999988247793601	0.928
18	56001049	G	A	18	58333817	y	y	splicing	NEDD4L(NM_001144967:exon12:c.991-1G>A;NM_001243960:exon12:c.991-1G>A;NM_015277:exon12:c.991-1G>A;NM_001144964:exon12:c.628-1G>A;NM_001144968:exon12:c.967-1G>A;NM_001144965:exon12:c.628-1G>A;NM_001144971:exon13:c.628-1G>A;NM_001144969:exon12:c.967-1G>A;NM_001144970:exon11:c.628-1G>A;NM_001144966:exon11:c.628-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.991-1G>A;ENST00000400345:exon12:c.991-1G>A;ENST00000256832:exon12:c.628-1G>A;ENST00000382850:exon12:c.991-1G>A;ENST00000256830:exon12:c.991-1G>A;ENST00000456986:exon12:c.628-1G>A;ENST00000357895:exon12:c.967-1G>A;ENST00000435432:exon13:c.628-1G>A;ENST00000586263:exon12:c.967-1G>A;ENST00000456173:exon11:c.628-1G>A;ENST00000431212:exon11:c.628-1G>A;ENST00000587881:exon5:c.493-1G>A)	.	.	0.999990361384395	0.938
18	56001049	G	C	18	58333817	y	y	splicing	NEDD4L(NM_001144967:exon12:c.991-1G>C;NM_001243960:exon12:c.991-1G>C;NM_015277:exon12:c.991-1G>C;NM_001144964:exon12:c.628-1G>C;NM_001144968:exon12:c.967-1G>C;NM_001144965:exon12:c.628-1G>C;NM_001144971:exon13:c.628-1G>C;NM_001144969:exon12:c.967-1G>C;NM_001144970:exon11:c.628-1G>C;NM_001144966:exon11:c.628-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.991-1G>C;ENST00000400345:exon12:c.991-1G>C;ENST00000256832:exon12:c.628-1G>C;ENST00000382850:exon12:c.991-1G>C;ENST00000256830:exon12:c.991-1G>C;ENST00000456986:exon12:c.628-1G>C;ENST00000357895:exon12:c.967-1G>C;ENST00000435432:exon13:c.628-1G>C;ENST00000586263:exon12:c.967-1G>C;ENST00000456173:exon11:c.628-1G>C;ENST00000431212:exon11:c.628-1G>C;ENST00000587881:exon5:c.493-1G>C)	.	.	0.999990361384395	0.936
18	56001049	G	T	18	58333817	y	y	splicing	NEDD4L(NM_001144967:exon12:c.991-1G>T;NM_001243960:exon12:c.991-1G>T;NM_015277:exon12:c.991-1G>T;NM_001144964:exon12:c.628-1G>T;NM_001144968:exon12:c.967-1G>T;NM_001144965:exon12:c.628-1G>T;NM_001144971:exon13:c.628-1G>T;NM_001144969:exon12:c.967-1G>T;NM_001144970:exon11:c.628-1G>T;NM_001144966:exon11:c.628-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.991-1G>T;ENST00000400345:exon12:c.991-1G>T;ENST00000256832:exon12:c.628-1G>T;ENST00000382850:exon12:c.991-1G>T;ENST00000256830:exon12:c.991-1G>T;ENST00000456986:exon12:c.628-1G>T;ENST00000357895:exon12:c.967-1G>T;ENST00000435432:exon13:c.628-1G>T;ENST00000586263:exon12:c.967-1G>T;ENST00000456173:exon11:c.628-1G>T;ENST00000431212:exon11:c.628-1G>T;ENST00000587881:exon5:c.493-1G>T)	.	.	0.999990361384395	0.936
18	56001050	C	A	18	58333818	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.C967A:p.Q323K;NEDD4L:NM_001144964:exon12:c.C628A:p.Q210K;NEDD4L:NM_015277:exon12:c.C991A:p.Q331K;NEDD4L:NM_001144967:exon12:c.C991A:p.Q331K;NEDD4L:NM_001144971:exon13:c.C628A:p.Q210K;NEDD4L:NM_001144968:exon12:c.C967A:p.Q323K;NEDD4L:NM_001144970:exon11:c.C628A:p.Q210K;NEDD4L:NM_001144965:exon12:c.C628A:p.Q210K;NEDD4L:NM_001144966:exon11:c.C628A:p.Q210K;NEDD4L:NM_001243960:exon12:c.C991A:p.Q331K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.C493A:p.Q165K;ENSG00000049759:ENST00000435432:exon13:c.C628A:p.Q210K;ENSG00000049759:ENST00000382850:exon12:c.C991A:p.Q331K;ENSG00000049759:ENST00000456986:exon12:c.C628A:p.Q210K;ENSG00000049759:ENST00000256830:exon12:c.C991A:p.Q331K;ENSG00000049759:ENST00000456173:exon11:c.C628A:p.Q210K;ENSG00000049759:ENST00000357895:exon12:c.C967A:p.Q323K;ENSG00000049759:ENST00000256832:exon12:c.C628A:p.Q210K;ENSG00000049759:ENST00000431212:exon11:c.C628A:p.Q210K;ENSG00000049759:ENST00000356462:exon12:c.C991A:p.Q331K;ENSG00000049759:ENST00000400345:exon12:c.C991A:p.Q331K;ENSG00000049759:ENST00000586263:exon12:c.C967A:p.Q323K;	0.553498039078209	0.52
18	56001050	C	G	18	58333818	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.C967G:p.Q323E;NEDD4L:NM_001144964:exon12:c.C628G:p.Q210E;NEDD4L:NM_015277:exon12:c.C991G:p.Q331E;NEDD4L:NM_001144967:exon12:c.C991G:p.Q331E;NEDD4L:NM_001144971:exon13:c.C628G:p.Q210E;NEDD4L:NM_001144968:exon12:c.C967G:p.Q323E;NEDD4L:NM_001144970:exon11:c.C628G:p.Q210E;NEDD4L:NM_001144965:exon12:c.C628G:p.Q210E;NEDD4L:NM_001144966:exon11:c.C628G:p.Q210E;NEDD4L:NM_001243960:exon12:c.C991G:p.Q331E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.C493G:p.Q165E;ENSG00000049759:ENST00000435432:exon13:c.C628G:p.Q210E;ENSG00000049759:ENST00000382850:exon12:c.C991G:p.Q331E;ENSG00000049759:ENST00000456986:exon12:c.C628G:p.Q210E;ENSG00000049759:ENST00000256830:exon12:c.C991G:p.Q331E;ENSG00000049759:ENST00000456173:exon11:c.C628G:p.Q210E;ENSG00000049759:ENST00000357895:exon12:c.C967G:p.Q323E;ENSG00000049759:ENST00000256832:exon12:c.C628G:p.Q210E;ENSG00000049759:ENST00000431212:exon11:c.C628G:p.Q210E;ENSG00000049759:ENST00000356462:exon12:c.C991G:p.Q331E;ENSG00000049759:ENST00000400345:exon12:c.C991G:p.Q331E;ENSG00000049759:ENST00000586263:exon12:c.C967G:p.Q323E;	0.0041551340011627	0.086
18	56001050	C	T	18	58333818	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon12:c.C967T:p.Q323X;NEDD4L:NM_001144964:exon12:c.C628T:p.Q210X;NEDD4L:NM_015277:exon12:c.C991T:p.Q331X;NEDD4L:NM_001144967:exon12:c.C991T:p.Q331X;NEDD4L:NM_001144971:exon13:c.C628T:p.Q210X;NEDD4L:NM_001144968:exon12:c.C967T:p.Q323X;NEDD4L:NM_001144970:exon11:c.C628T:p.Q210X;NEDD4L:NM_001144965:exon12:c.C628T:p.Q210X;NEDD4L:NM_001144966:exon11:c.C628T:p.Q210X;NEDD4L:NM_001243960:exon12:c.C991T:p.Q331X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon5:c.C493T:p.Q165X;ENSG00000049759:ENST00000435432:exon13:c.C628T:p.Q210X;ENSG00000049759:ENST00000382850:exon12:c.C991T:p.Q331X;ENSG00000049759:ENST00000456986:exon12:c.C628T:p.Q210X;ENSG00000049759:ENST00000256830:exon12:c.C991T:p.Q331X;ENSG00000049759:ENST00000456173:exon11:c.C628T:p.Q210X;ENSG00000049759:ENST00000357895:exon12:c.C967T:p.Q323X;ENSG00000049759:ENST00000256832:exon12:c.C628T:p.Q210X;ENSG00000049759:ENST00000431212:exon11:c.C628T:p.Q210X;ENSG00000049759:ENST00000356462:exon12:c.C991T:p.Q331X;ENSG00000049759:ENST00000400345:exon12:c.C991T:p.Q331X;ENSG00000049759:ENST00000586263:exon12:c.C967T:p.Q323X;	0.990751352288473	0.946
18	56001051	A	C	18	58333819	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.A968C:p.Q323P;NEDD4L:NM_001144964:exon12:c.A629C:p.Q210P;NEDD4L:NM_015277:exon12:c.A992C:p.Q331P;NEDD4L:NM_001144967:exon12:c.A992C:p.Q331P;NEDD4L:NM_001144971:exon13:c.A629C:p.Q210P;NEDD4L:NM_001144968:exon12:c.A968C:p.Q323P;NEDD4L:NM_001144970:exon11:c.A629C:p.Q210P;NEDD4L:NM_001144965:exon12:c.A629C:p.Q210P;NEDD4L:NM_001144966:exon11:c.A629C:p.Q210P;NEDD4L:NM_001243960:exon12:c.A992C:p.Q331P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.A494C:p.Q165P;ENSG00000049759:ENST00000435432:exon13:c.A629C:p.Q210P;ENSG00000049759:ENST00000382850:exon12:c.A992C:p.Q331P;ENSG00000049759:ENST00000456986:exon12:c.A629C:p.Q210P;ENSG00000049759:ENST00000256830:exon12:c.A992C:p.Q331P;ENSG00000049759:ENST00000456173:exon11:c.A629C:p.Q210P;ENSG00000049759:ENST00000357895:exon12:c.A968C:p.Q323P;ENSG00000049759:ENST00000256832:exon12:c.A629C:p.Q210P;ENSG00000049759:ENST00000431212:exon11:c.A629C:p.Q210P;ENSG00000049759:ENST00000356462:exon12:c.A992C:p.Q331P;ENSG00000049759:ENST00000400345:exon12:c.A992C:p.Q331P;ENSG00000049759:ENST00000586263:exon12:c.A968C:p.Q323P;	0.0766937878015429	0.264
18	56001051	A	G	18	58333819	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.A968G:p.Q323R;NEDD4L:NM_001144964:exon12:c.A629G:p.Q210R;NEDD4L:NM_015277:exon12:c.A992G:p.Q331R;NEDD4L:NM_001144967:exon12:c.A992G:p.Q331R;NEDD4L:NM_001144971:exon13:c.A629G:p.Q210R;NEDD4L:NM_001144968:exon12:c.A968G:p.Q323R;NEDD4L:NM_001144970:exon11:c.A629G:p.Q210R;NEDD4L:NM_001144965:exon12:c.A629G:p.Q210R;NEDD4L:NM_001144966:exon11:c.A629G:p.Q210R;NEDD4L:NM_001243960:exon12:c.A992G:p.Q331R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.A494G:p.Q165R;ENSG00000049759:ENST00000435432:exon13:c.A629G:p.Q210R;ENSG00000049759:ENST00000382850:exon12:c.A992G:p.Q331R;ENSG00000049759:ENST00000456986:exon12:c.A629G:p.Q210R;ENSG00000049759:ENST00000256830:exon12:c.A992G:p.Q331R;ENSG00000049759:ENST00000456173:exon11:c.A629G:p.Q210R;ENSG00000049759:ENST00000357895:exon12:c.A968G:p.Q323R;ENSG00000049759:ENST00000256832:exon12:c.A629G:p.Q210R;ENSG00000049759:ENST00000431212:exon11:c.A629G:p.Q210R;ENSG00000049759:ENST00000356462:exon12:c.A992G:p.Q331R;ENSG00000049759:ENST00000400345:exon12:c.A992G:p.Q331R;ENSG00000049759:ENST00000586263:exon12:c.A968G:p.Q323R;	0.355862207490538	0.378
18	56001051	A	T	18	58333819	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.A968T:p.Q323L;NEDD4L:NM_001144964:exon12:c.A629T:p.Q210L;NEDD4L:NM_015277:exon12:c.A992T:p.Q331L;NEDD4L:NM_001144967:exon12:c.A992T:p.Q331L;NEDD4L:NM_001144971:exon13:c.A629T:p.Q210L;NEDD4L:NM_001144968:exon12:c.A968T:p.Q323L;NEDD4L:NM_001144970:exon11:c.A629T:p.Q210L;NEDD4L:NM_001144965:exon12:c.A629T:p.Q210L;NEDD4L:NM_001144966:exon11:c.A629T:p.Q210L;NEDD4L:NM_001243960:exon12:c.A992T:p.Q331L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.A494T:p.Q165L;ENSG00000049759:ENST00000435432:exon13:c.A629T:p.Q210L;ENSG00000049759:ENST00000382850:exon12:c.A992T:p.Q331L;ENSG00000049759:ENST00000456986:exon12:c.A629T:p.Q210L;ENSG00000049759:ENST00000256830:exon12:c.A992T:p.Q331L;ENSG00000049759:ENST00000456173:exon11:c.A629T:p.Q210L;ENSG00000049759:ENST00000357895:exon12:c.A968T:p.Q323L;ENSG00000049759:ENST00000256832:exon12:c.A629T:p.Q210L;ENSG00000049759:ENST00000431212:exon11:c.A629T:p.Q210L;ENSG00000049759:ENST00000356462:exon12:c.A992T:p.Q331L;ENSG00000049759:ENST00000400345:exon12:c.A992T:p.Q331L;ENSG00000049759:ENST00000586263:exon12:c.A968T:p.Q323L;	0.606844763989344	0.672
18	56001122	C	A	18	58333890	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.C1039A:p.P347T;NEDD4L:NM_001144964:exon12:c.C700A:p.P234T;NEDD4L:NM_015277:exon12:c.C1063A:p.P355T;NEDD4L:NM_001144967:exon12:c.C1063A:p.P355T;NEDD4L:NM_001144971:exon13:c.C700A:p.P234T;NEDD4L:NM_001144968:exon12:c.C1039A:p.P347T;NEDD4L:NM_001144970:exon11:c.C700A:p.P234T;NEDD4L:NM_001144965:exon12:c.C700A:p.P234T;NEDD4L:NM_001144966:exon11:c.C700A:p.P234T;NEDD4L:NM_001243960:exon12:c.C1063A:p.P355T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.C565A:p.P189T;ENSG00000049759:ENST00000435432:exon13:c.C700A:p.P234T;ENSG00000049759:ENST00000382850:exon12:c.C1063A:p.P355T;ENSG00000049759:ENST00000456986:exon12:c.C700A:p.P234T;ENSG00000049759:ENST00000256830:exon12:c.C1063A:p.P355T;ENSG00000049759:ENST00000456173:exon11:c.C700A:p.P234T;ENSG00000049759:ENST00000357895:exon12:c.C1039A:p.P347T;ENSG00000049759:ENST00000256832:exon12:c.C700A:p.P234T;ENSG00000049759:ENST00000431212:exon11:c.C700A:p.P234T;ENSG00000049759:ENST00000356462:exon12:c.C1063A:p.P355T;ENSG00000049759:ENST00000400345:exon12:c.C1063A:p.P355T;ENSG00000049759:ENST00000586263:exon12:c.C1039A:p.P347T;	0.00728632594494289	0.19
18	56001122	C	G	18	58333890	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.C1039G:p.P347A;NEDD4L:NM_001144964:exon12:c.C700G:p.P234A;NEDD4L:NM_015277:exon12:c.C1063G:p.P355A;NEDD4L:NM_001144967:exon12:c.C1063G:p.P355A;NEDD4L:NM_001144971:exon13:c.C700G:p.P234A;NEDD4L:NM_001144968:exon12:c.C1039G:p.P347A;NEDD4L:NM_001144970:exon11:c.C700G:p.P234A;NEDD4L:NM_001144965:exon12:c.C700G:p.P234A;NEDD4L:NM_001144966:exon11:c.C700G:p.P234A;NEDD4L:NM_001243960:exon12:c.C1063G:p.P355A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.C565G:p.P189A;ENSG00000049759:ENST00000435432:exon13:c.C700G:p.P234A;ENSG00000049759:ENST00000382850:exon12:c.C1063G:p.P355A;ENSG00000049759:ENST00000456986:exon12:c.C700G:p.P234A;ENSG00000049759:ENST00000256830:exon12:c.C1063G:p.P355A;ENSG00000049759:ENST00000456173:exon11:c.C700G:p.P234A;ENSG00000049759:ENST00000357895:exon12:c.C1039G:p.P347A;ENSG00000049759:ENST00000256832:exon12:c.C700G:p.P234A;ENSG00000049759:ENST00000431212:exon11:c.C700G:p.P234A;ENSG00000049759:ENST00000356462:exon12:c.C1063G:p.P355A;ENSG00000049759:ENST00000400345:exon12:c.C1063G:p.P355A;ENSG00000049759:ENST00000586263:exon12:c.C1039G:p.P347A;	0.302850293634035	0.432
18	56001122	C	T	18	58333890	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.C1039T:p.P347S;NEDD4L:NM_001144964:exon12:c.C700T:p.P234S;NEDD4L:NM_015277:exon12:c.C1063T:p.P355S;NEDD4L:NM_001144967:exon12:c.C1063T:p.P355S;NEDD4L:NM_001144971:exon13:c.C700T:p.P234S;NEDD4L:NM_001144968:exon12:c.C1039T:p.P347S;NEDD4L:NM_001144970:exon11:c.C700T:p.P234S;NEDD4L:NM_001144965:exon12:c.C700T:p.P234S;NEDD4L:NM_001144966:exon11:c.C700T:p.P234S;NEDD4L:NM_001243960:exon12:c.C1063T:p.P355S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.C565T:p.P189S;ENSG00000049759:ENST00000435432:exon13:c.C700T:p.P234S;ENSG00000049759:ENST00000382850:exon12:c.C1063T:p.P355S;ENSG00000049759:ENST00000456986:exon12:c.C700T:p.P234S;ENSG00000049759:ENST00000256830:exon12:c.C1063T:p.P355S;ENSG00000049759:ENST00000456173:exon11:c.C700T:p.P234S;ENSG00000049759:ENST00000357895:exon12:c.C1039T:p.P347S;ENSG00000049759:ENST00000256832:exon12:c.C700T:p.P234S;ENSG00000049759:ENST00000431212:exon11:c.C700T:p.P234S;ENSG00000049759:ENST00000356462:exon12:c.C1063T:p.P355S;ENSG00000049759:ENST00000400345:exon12:c.C1063T:p.P355S;ENSG00000049759:ENST00000586263:exon12:c.C1039T:p.P347S;	0.934031124320575	0.674
18	56001123	C	A	18	58333891	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.C1040A:p.P347Q;NEDD4L:NM_001144964:exon12:c.C701A:p.P234Q;NEDD4L:NM_015277:exon12:c.C1064A:p.P355Q;NEDD4L:NM_001144967:exon12:c.C1064A:p.P355Q;NEDD4L:NM_001144971:exon13:c.C701A:p.P234Q;NEDD4L:NM_001144968:exon12:c.C1040A:p.P347Q;NEDD4L:NM_001144970:exon11:c.C701A:p.P234Q;NEDD4L:NM_001144965:exon12:c.C701A:p.P234Q;NEDD4L:NM_001144966:exon11:c.C701A:p.P234Q;NEDD4L:NM_001243960:exon12:c.C1064A:p.P355Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.C566A:p.P189Q;ENSG00000049759:ENST00000435432:exon13:c.C701A:p.P234Q;ENSG00000049759:ENST00000382850:exon12:c.C1064A:p.P355Q;ENSG00000049759:ENST00000456986:exon12:c.C701A:p.P234Q;ENSG00000049759:ENST00000256830:exon12:c.C1064A:p.P355Q;ENSG00000049759:ENST00000456173:exon11:c.C701A:p.P234Q;ENSG00000049759:ENST00000357895:exon12:c.C1040A:p.P347Q;ENSG00000049759:ENST00000256832:exon12:c.C701A:p.P234Q;ENSG00000049759:ENST00000431212:exon11:c.C701A:p.P234Q;ENSG00000049759:ENST00000356462:exon12:c.C1064A:p.P355Q;ENSG00000049759:ENST00000400345:exon12:c.C1064A:p.P355Q;ENSG00000049759:ENST00000586263:exon12:c.C1040A:p.P347Q;	0.855149044221172	0.482
18	56001123	C	G	18	58333891	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.C1040G:p.P347R;NEDD4L:NM_001144964:exon12:c.C701G:p.P234R;NEDD4L:NM_015277:exon12:c.C1064G:p.P355R;NEDD4L:NM_001144967:exon12:c.C1064G:p.P355R;NEDD4L:NM_001144971:exon13:c.C701G:p.P234R;NEDD4L:NM_001144968:exon12:c.C1040G:p.P347R;NEDD4L:NM_001144970:exon11:c.C701G:p.P234R;NEDD4L:NM_001144965:exon12:c.C701G:p.P234R;NEDD4L:NM_001144966:exon11:c.C701G:p.P234R;NEDD4L:NM_001243960:exon12:c.C1064G:p.P355R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.C566G:p.P189R;ENSG00000049759:ENST00000435432:exon13:c.C701G:p.P234R;ENSG00000049759:ENST00000382850:exon12:c.C1064G:p.P355R;ENSG00000049759:ENST00000456986:exon12:c.C701G:p.P234R;ENSG00000049759:ENST00000256830:exon12:c.C1064G:p.P355R;ENSG00000049759:ENST00000456173:exon11:c.C701G:p.P234R;ENSG00000049759:ENST00000357895:exon12:c.C1040G:p.P347R;ENSG00000049759:ENST00000256832:exon12:c.C701G:p.P234R;ENSG00000049759:ENST00000431212:exon11:c.C701G:p.P234R;ENSG00000049759:ENST00000356462:exon12:c.C1064G:p.P355R;ENSG00000049759:ENST00000400345:exon12:c.C1064G:p.P355R;ENSG00000049759:ENST00000586263:exon12:c.C1040G:p.P347R;	0.961559149993242	0.616
18	56001123	C	T	18	58333891	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon12:c.C1040T:p.P347L;NEDD4L:NM_001144964:exon12:c.C701T:p.P234L;NEDD4L:NM_015277:exon12:c.C1064T:p.P355L;NEDD4L:NM_001144967:exon12:c.C1064T:p.P355L;NEDD4L:NM_001144971:exon13:c.C701T:p.P234L;NEDD4L:NM_001144968:exon12:c.C1040T:p.P347L;NEDD4L:NM_001144970:exon11:c.C701T:p.P234L;NEDD4L:NM_001144965:exon12:c.C701T:p.P234L;NEDD4L:NM_001144966:exon11:c.C701T:p.P234L;NEDD4L:NM_001243960:exon12:c.C1064T:p.P355L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.C566T:p.P189L;ENSG00000049759:ENST00000435432:exon13:c.C701T:p.P234L;ENSG00000049759:ENST00000382850:exon12:c.C1064T:p.P355L;ENSG00000049759:ENST00000456986:exon12:c.C701T:p.P234L;ENSG00000049759:ENST00000256830:exon12:c.C1064T:p.P355L;ENSG00000049759:ENST00000456173:exon11:c.C701T:p.P234L;ENSG00000049759:ENST00000357895:exon12:c.C1040T:p.P347L;ENSG00000049759:ENST00000256832:exon12:c.C701T:p.P234L;ENSG00000049759:ENST00000431212:exon11:c.C701T:p.P234L;ENSG00000049759:ENST00000356462:exon12:c.C1064T:p.P355L;ENSG00000049759:ENST00000400345:exon12:c.C1064T:p.P355L;ENSG00000049759:ENST00000586263:exon12:c.C1040T:p.P347L;	0.979199084949007	0.714
18	56001124	G	A	18	58333892	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon12:c.G1041A:p.P347P;NEDD4L:NM_001144964:exon12:c.G702A:p.P234P;NEDD4L:NM_015277:exon12:c.G1065A:p.P355P;NEDD4L:NM_001144967:exon12:c.G1065A:p.P355P;NEDD4L:NM_001144971:exon13:c.G702A:p.P234P;NEDD4L:NM_001144968:exon12:c.G1041A:p.P347P;NEDD4L:NM_001144970:exon11:c.G702A:p.P234P;NEDD4L:NM_001144965:exon12:c.G702A:p.P234P;NEDD4L:NM_001144966:exon11:c.G702A:p.P234P;NEDD4L:NM_001243960:exon12:c.G1065A:p.P355P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.G567A:p.P189P;ENSG00000049759:ENST00000435432:exon13:c.G702A:p.P234P;ENSG00000049759:ENST00000382850:exon12:c.G1065A:p.P355P;ENSG00000049759:ENST00000456986:exon12:c.G702A:p.P234P;ENSG00000049759:ENST00000256830:exon12:c.G1065A:p.P355P;ENSG00000049759:ENST00000456173:exon11:c.G702A:p.P234P;ENSG00000049759:ENST00000357895:exon12:c.G1041A:p.P347P;ENSG00000049759:ENST00000256832:exon12:c.G702A:p.P234P;ENSG00000049759:ENST00000431212:exon11:c.G702A:p.P234P;ENSG00000049759:ENST00000356462:exon12:c.G1065A:p.P355P;ENSG00000049759:ENST00000400345:exon12:c.G1065A:p.P355P;ENSG00000049759:ENST00000586263:exon12:c.G1041A:p.P347P;	0.999988353404886	0.998
18	56001124	G	C	18	58333892	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon12:c.G1041C:p.P347P;NEDD4L:NM_001144964:exon12:c.G702C:p.P234P;NEDD4L:NM_015277:exon12:c.G1065C:p.P355P;NEDD4L:NM_001144967:exon12:c.G1065C:p.P355P;NEDD4L:NM_001144971:exon13:c.G702C:p.P234P;NEDD4L:NM_001144968:exon12:c.G1041C:p.P347P;NEDD4L:NM_001144970:exon11:c.G702C:p.P234P;NEDD4L:NM_001144965:exon12:c.G702C:p.P234P;NEDD4L:NM_001144966:exon11:c.G702C:p.P234P;NEDD4L:NM_001243960:exon12:c.G1065C:p.P355P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.G567C:p.P189P;ENSG00000049759:ENST00000435432:exon13:c.G702C:p.P234P;ENSG00000049759:ENST00000382850:exon12:c.G1065C:p.P355P;ENSG00000049759:ENST00000456986:exon12:c.G702C:p.P234P;ENSG00000049759:ENST00000256830:exon12:c.G1065C:p.P355P;ENSG00000049759:ENST00000456173:exon11:c.G702C:p.P234P;ENSG00000049759:ENST00000357895:exon12:c.G1041C:p.P347P;ENSG00000049759:ENST00000256832:exon12:c.G702C:p.P234P;ENSG00000049759:ENST00000431212:exon11:c.G702C:p.P234P;ENSG00000049759:ENST00000356462:exon12:c.G1065C:p.P355P;ENSG00000049759:ENST00000400345:exon12:c.G1065C:p.P355P;ENSG00000049759:ENST00000586263:exon12:c.G1041C:p.P347P;	0.999986310117403	0.984
18	56001124	G	T	18	58333892	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon12:c.G1041T:p.P347P;NEDD4L:NM_001144964:exon12:c.G702T:p.P234P;NEDD4L:NM_015277:exon12:c.G1065T:p.P355P;NEDD4L:NM_001144967:exon12:c.G1065T:p.P355P;NEDD4L:NM_001144971:exon13:c.G702T:p.P234P;NEDD4L:NM_001144968:exon12:c.G1041T:p.P347P;NEDD4L:NM_001144970:exon11:c.G702T:p.P234P;NEDD4L:NM_001144965:exon12:c.G702T:p.P234P;NEDD4L:NM_001144966:exon11:c.G702T:p.P234P;NEDD4L:NM_001243960:exon12:c.G1065T:p.P355P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon5:c.G567T:p.P189P;ENSG00000049759:ENST00000435432:exon13:c.G702T:p.P234P;ENSG00000049759:ENST00000382850:exon12:c.G1065T:p.P355P;ENSG00000049759:ENST00000456986:exon12:c.G702T:p.P234P;ENSG00000049759:ENST00000256830:exon12:c.G1065T:p.P355P;ENSG00000049759:ENST00000456173:exon11:c.G702T:p.P234P;ENSG00000049759:ENST00000357895:exon12:c.G1041T:p.P347P;ENSG00000049759:ENST00000256832:exon12:c.G702T:p.P234P;ENSG00000049759:ENST00000431212:exon11:c.G702T:p.P234P;ENSG00000049759:ENST00000356462:exon12:c.G1065T:p.P355P;ENSG00000049759:ENST00000400345:exon12:c.G1065T:p.P355P;ENSG00000049759:ENST00000586263:exon12:c.G1041T:p.P347P;	0.999970793170008	0.996
18	56001125	G	A	18	58333893	y	y	splicing	NEDD4L(NM_001144967:exon12:c.1065+1G>A;NM_001243960:exon12:c.1065+1G>A;NM_015277:exon12:c.1065+1G>A;NM_001144964:exon12:c.702+1G>A;NM_001144968:exon12:c.1041+1G>A;NM_001144965:exon12:c.702+1G>A;NM_001144971:exon13:c.702+1G>A;NM_001144969:exon12:c.1041+1G>A;NM_001144970:exon11:c.702+1G>A;NM_001144966:exon11:c.702+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.1065+1G>A;ENST00000400345:exon12:c.1065+1G>A;ENST00000256832:exon12:c.702+1G>A;ENST00000382850:exon12:c.1065+1G>A;ENST00000256830:exon12:c.1065+1G>A;ENST00000456986:exon12:c.702+1G>A;ENST00000357895:exon12:c.1041+1G>A;ENST00000435432:exon13:c.702+1G>A;ENST00000586263:exon12:c.1041+1G>A;ENST00000456173:exon11:c.702+1G>A;ENST00000431212:exon11:c.702+1G>A;ENST00000587881:exon5:c.567+1G>A)	.	.	0.999990361384395	0.938
18	56001125	G	C	18	58333893	y	y	splicing	NEDD4L(NM_001144967:exon12:c.1065+1G>C;NM_001243960:exon12:c.1065+1G>C;NM_015277:exon12:c.1065+1G>C;NM_001144964:exon12:c.702+1G>C;NM_001144968:exon12:c.1041+1G>C;NM_001144965:exon12:c.702+1G>C;NM_001144971:exon13:c.702+1G>C;NM_001144969:exon12:c.1041+1G>C;NM_001144970:exon11:c.702+1G>C;NM_001144966:exon11:c.702+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.1065+1G>C;ENST00000400345:exon12:c.1065+1G>C;ENST00000256832:exon12:c.702+1G>C;ENST00000382850:exon12:c.1065+1G>C;ENST00000256830:exon12:c.1065+1G>C;ENST00000456986:exon12:c.702+1G>C;ENST00000357895:exon12:c.1041+1G>C;ENST00000435432:exon13:c.702+1G>C;ENST00000586263:exon12:c.1041+1G>C;ENST00000456173:exon11:c.702+1G>C;ENST00000431212:exon11:c.702+1G>C;ENST00000587881:exon5:c.567+1G>C)	.	.	0.999990361384395	0.938
18	56001125	G	T	18	58333893	y	y	splicing	NEDD4L(NM_001144967:exon12:c.1065+1G>T;NM_001243960:exon12:c.1065+1G>T;NM_015277:exon12:c.1065+1G>T;NM_001144964:exon12:c.702+1G>T;NM_001144968:exon12:c.1041+1G>T;NM_001144965:exon12:c.702+1G>T;NM_001144971:exon13:c.702+1G>T;NM_001144969:exon12:c.1041+1G>T;NM_001144970:exon11:c.702+1G>T;NM_001144966:exon11:c.702+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.1065+1G>T;ENST00000400345:exon12:c.1065+1G>T;ENST00000256832:exon12:c.702+1G>T;ENST00000382850:exon12:c.1065+1G>T;ENST00000256830:exon12:c.1065+1G>T;ENST00000456986:exon12:c.702+1G>T;ENST00000357895:exon12:c.1041+1G>T;ENST00000435432:exon13:c.702+1G>T;ENST00000586263:exon12:c.1041+1G>T;ENST00000456173:exon11:c.702+1G>T;ENST00000431212:exon11:c.702+1G>T;ENST00000587881:exon5:c.567+1G>T)	.	.	0.999990361384395	0.938
18	56001126	T	A	18	58333894	y	y	splicing	NEDD4L(NM_001144967:exon12:c.1065+2T>A;NM_001243960:exon12:c.1065+2T>A;NM_015277:exon12:c.1065+2T>A;NM_001144964:exon12:c.702+2T>A;NM_001144968:exon12:c.1041+2T>A;NM_001144965:exon12:c.702+2T>A;NM_001144971:exon13:c.702+2T>A;NM_001144969:exon12:c.1041+2T>A;NM_001144970:exon11:c.702+2T>A;NM_001144966:exon11:c.702+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.1065+2T>A;ENST00000400345:exon12:c.1065+2T>A;ENST00000256832:exon12:c.702+2T>A;ENST00000382850:exon12:c.1065+2T>A;ENST00000256830:exon12:c.1065+2T>A;ENST00000456986:exon12:c.702+2T>A;ENST00000357895:exon12:c.1041+2T>A;ENST00000435432:exon13:c.702+2T>A;ENST00000586263:exon12:c.1041+2T>A;ENST00000456173:exon11:c.702+2T>A;ENST00000431212:exon11:c.702+2T>A;ENST00000587881:exon5:c.567+2T>A)	.	.	0.999988247793601	0.93
18	56001126	T	C	18	58333894	y	y	splicing	NEDD4L(NM_001144967:exon12:c.1065+2T>C;NM_001243960:exon12:c.1065+2T>C;NM_015277:exon12:c.1065+2T>C;NM_001144964:exon12:c.702+2T>C;NM_001144968:exon12:c.1041+2T>C;NM_001144965:exon12:c.702+2T>C;NM_001144971:exon13:c.702+2T>C;NM_001144969:exon12:c.1041+2T>C;NM_001144970:exon11:c.702+2T>C;NM_001144966:exon11:c.702+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.1065+2T>C;ENST00000400345:exon12:c.1065+2T>C;ENST00000256832:exon12:c.702+2T>C;ENST00000382850:exon12:c.1065+2T>C;ENST00000256830:exon12:c.1065+2T>C;ENST00000456986:exon12:c.702+2T>C;ENST00000357895:exon12:c.1041+2T>C;ENST00000435432:exon13:c.702+2T>C;ENST00000586263:exon12:c.1041+2T>C;ENST00000456173:exon11:c.702+2T>C;ENST00000431212:exon11:c.702+2T>C;ENST00000587881:exon5:c.567+2T>C)	.	.	0.99991522016916	0.878
18	56001126	T	G	18	58333894	y	y	splicing	NEDD4L(NM_001144967:exon12:c.1065+2T>G;NM_001243960:exon12:c.1065+2T>G;NM_015277:exon12:c.1065+2T>G;NM_001144964:exon12:c.702+2T>G;NM_001144968:exon12:c.1041+2T>G;NM_001144965:exon12:c.702+2T>G;NM_001144971:exon13:c.702+2T>G;NM_001144969:exon12:c.1041+2T>G;NM_001144970:exon11:c.702+2T>G;NM_001144966:exon11:c.702+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon12:c.1065+2T>G;ENST00000400345:exon12:c.1065+2T>G;ENST00000256832:exon12:c.702+2T>G;ENST00000382850:exon12:c.1065+2T>G;ENST00000256830:exon12:c.1065+2T>G;ENST00000456986:exon12:c.702+2T>G;ENST00000357895:exon12:c.1041+2T>G;ENST00000435432:exon13:c.702+2T>G;ENST00000586263:exon12:c.1041+2T>G;ENST00000456173:exon11:c.702+2T>G;ENST00000431212:exon11:c.702+2T>G;ENST00000587881:exon5:c.567+2T>G)	.	.	0.999988247793601	0.93
18	56001127	A	C	18	58333895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99990243462626	0.952
18	56001127	A	G	18	58333895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999161301992686	0.974
18	56001127	A	T	18	58333895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999872705146462	0.906
18	56001128	A	C	18	58333896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998629682372647	0.856
18	56001128	A	G	18	58333896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998661394803274	0.96
18	56001128	A	T	18	58333896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998002251662312	0.906
18	56001129	C	A	18	58333897	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.003254029577954	0.128
18	56001129	C	G	18	58333897	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.8924753969441E-4	0.08
18	56001129	C	T	18	58333897	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00347746823315649	0.198
18	56001130	C	A	18	58333898	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00116550605069428	0.154
18	56001130	C	G	18	58333898	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.19998818800766E-4	0.128
18	56001130	C	T	18	58333898	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00147939884471464	0.08
18	56001131	C	A	18	58333899	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.49987850486752E-5	0.0
18	56001131	C	G	18	58333899	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.90721542491387E-4	0.052
18	56001131	C	T	18	58333899	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.33049521825597E-4	0.022
18	56001132	A	C	18	58333900	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.02200157277165E-5	0.0
18	56001132	A	G	18	58333900	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.21680037555797E-4	0.002
18	56001132	A	T	18	58333900	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.58763978924509E-5	0.024
18	56002698	T	A	18	58335466	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.9997841810289	0.924
18	56002698	T	C	18	58335466	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.914881628517393	0.518
18	56002698	T	G	18	58335466	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999724750931814	0.916
18	56002699	A	C	18	58335467	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.81570998305258E-5	0.242
18	56002699	A	G	18	58335467	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.16807804122034E-4	0.184
18	56002699	A	T	18	58335467	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.72294944343589E-4	0.366
18	56002700	T	A	18	58335468	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999714995809325	0.924
18	56002700	T	C	18	58335468	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.845728392967686	0.562
18	56002700	T	G	18	58335468	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999989635703149	0.966
18	56002701	C	A	18	58335469	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.602285630144616	0.498
18	56002701	C	G	18	58335469	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.5514760965411	0.5
18	56002701	C	T	18	58335469	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.545643800190613	0.578
18	56002702	A	C	18	58335470	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.93724786677502E-5	0.018
18	56002702	A	G	18	58335470	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.02264306515748E-4	0.104
18	56002702	A	T	18	58335470	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.81332919805307E-4	0.032
18	56002703	T	A	18	58335471	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998916148840579	0.942
18	56002703	T	C	18	58335471	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.514370876820803	0.582
18	56002703	T	G	18	58335471	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999944672411318	0.964
18	56002704	T	A	18	58335472	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998018876034157	0.896
18	56002704	T	C	18	58335472	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.765578976985236	0.592
18	56002704	T	G	18	58335472	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.993943999380741	0.866
18	56002705	C	A	18	58335473	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00323137035848763	0.132
18	56002705	C	G	18	58335473	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00613540608532107	0.104
18	56002705	C	T	18	58335473	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.93276875261983E-5	0.022
18	56002706	A	C	18	58335474	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.651124253634365	0.514
18	56002706	A	G	18	58335474	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.748129290349874	0.516
18	56002706	A	T	18	58335474	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.763608227953635	0.572
18	56002707	C	A	18	58335475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999944631857942	0.864
18	56002707	C	G	18	58335475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999950998960427	0.938
18	56002707	C	T	18	58335475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996360263466404	0.494
18	56002708	A	C	18	58335476	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1066-2A>C;NM_001144964:exon13:c.703-2A>C;NM_001144968:exon13:c.1042-2A>C;NM_001144965:exon13:c.703-2A>C;NM_001144966:exon12:c.703-2A>C)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1066-2A>C;ENST00000456986:exon13:c.703-2A>C;ENST00000357895:exon13:c.1042-2A>C;ENST00000431212:exon12:c.703-2A>C)	.	.	0.999986741007567	0.94
18	56002708	A	G	18	58335476	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1066-2A>G;NM_001144964:exon13:c.703-2A>G;NM_001144968:exon13:c.1042-2A>G;NM_001144965:exon13:c.703-2A>G;NM_001144966:exon12:c.703-2A>G)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1066-2A>G;ENST00000456986:exon13:c.703-2A>G;ENST00000357895:exon13:c.1042-2A>G;ENST00000431212:exon12:c.703-2A>G)	.	.	0.999986741007567	0.94
18	56002708	A	T	18	58335476	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1066-2A>T;NM_001144964:exon13:c.703-2A>T;NM_001144968:exon13:c.1042-2A>T;NM_001144965:exon13:c.703-2A>T;NM_001144966:exon12:c.703-2A>T)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1066-2A>T;ENST00000456986:exon13:c.703-2A>T;ENST00000357895:exon13:c.1042-2A>T;ENST00000431212:exon12:c.703-2A>T)	.	.	0.999986741007567	0.94
18	56002709	G	A	18	58335477	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1066-1G>A;NM_001144964:exon13:c.703-1G>A;NM_001144968:exon13:c.1042-1G>A;NM_001144965:exon13:c.703-1G>A;NM_001144966:exon12:c.703-1G>A)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1066-1G>A;ENST00000456986:exon13:c.703-1G>A;ENST00000357895:exon13:c.1042-1G>A;ENST00000431212:exon12:c.703-1G>A)	.	.	0.999989125585301	0.94
18	56002709	G	C	18	58335477	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1066-1G>C;NM_001144964:exon13:c.703-1G>C;NM_001144968:exon13:c.1042-1G>C;NM_001144965:exon13:c.703-1G>C;NM_001144966:exon12:c.703-1G>C)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1066-1G>C;ENST00000456986:exon13:c.703-1G>C;ENST00000357895:exon13:c.1042-1G>C;ENST00000431212:exon12:c.703-1G>C)	.	.	0.999989125585301	0.94
18	56002709	G	T	18	58335477	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1066-1G>T;NM_001144964:exon13:c.703-1G>T;NM_001144968:exon13:c.1042-1G>T;NM_001144965:exon13:c.703-1G>T;NM_001144966:exon12:c.703-1G>T)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1066-1G>T;ENST00000456986:exon13:c.703-1G>T;ENST00000357895:exon13:c.1042-1G>T;ENST00000431212:exon12:c.703-1G>T)	.	.	0.999989125585301	0.94
18	56002710	C	A	18	58335478	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C703A:p.P235T;NEDD4L:NM_001144967:exon13:c.C1066A:p.P356T;NEDD4L:NM_001144968:exon13:c.C1042A:p.P348T;NEDD4L:NM_001144965:exon13:c.C703A:p.P235T;NEDD4L:NM_001144966:exon12:c.C703A:p.P235T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C703A:p.P235T;ENSG00000049759:ENST00000357895:exon13:c.C1042A:p.P348T;ENSG00000049759:ENST00000431212:exon12:c.C703A:p.P235T;ENSG00000049759:ENST00000400345:exon13:c.C1066A:p.P356T;	0.728242889367518	0.638
18	56002710	C	G	18	58335478	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C703G:p.P235A;NEDD4L:NM_001144967:exon13:c.C1066G:p.P356A;NEDD4L:NM_001144968:exon13:c.C1042G:p.P348A;NEDD4L:NM_001144965:exon13:c.C703G:p.P235A;NEDD4L:NM_001144966:exon12:c.C703G:p.P235A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C703G:p.P235A;ENSG00000049759:ENST00000357895:exon13:c.C1042G:p.P348A;ENSG00000049759:ENST00000431212:exon12:c.C703G:p.P235A;ENSG00000049759:ENST00000400345:exon13:c.C1066G:p.P356A;	0.290551340675409	0.318
18	56002710	C	T	18	58335478	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C703T:p.P235S;NEDD4L:NM_001144967:exon13:c.C1066T:p.P356S;NEDD4L:NM_001144968:exon13:c.C1042T:p.P348S;NEDD4L:NM_001144965:exon13:c.C703T:p.P235S;NEDD4L:NM_001144966:exon12:c.C703T:p.P235S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C703T:p.P235S;ENSG00000049759:ENST00000357895:exon13:c.C1042T:p.P348S;ENSG00000049759:ENST00000431212:exon12:c.C703T:p.P235S;ENSG00000049759:ENST00000400345:exon13:c.C1066T:p.P356S;	0.992542484197169	0.83
18	56002711	C	A	18	58335479	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C704A:p.P235H;NEDD4L:NM_001144967:exon13:c.C1067A:p.P356H;NEDD4L:NM_001144968:exon13:c.C1043A:p.P348H;NEDD4L:NM_001144965:exon13:c.C704A:p.P235H;NEDD4L:NM_001144966:exon12:c.C704A:p.P235H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C704A:p.P235H;ENSG00000049759:ENST00000357895:exon13:c.C1043A:p.P348H;ENSG00000049759:ENST00000431212:exon12:c.C704A:p.P235H;ENSG00000049759:ENST00000400345:exon13:c.C1067A:p.P356H;	0.890821492735845	0.57
18	56002711	C	G	18	58335479	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C704G:p.P235R;NEDD4L:NM_001144967:exon13:c.C1067G:p.P356R;NEDD4L:NM_001144968:exon13:c.C1043G:p.P348R;NEDD4L:NM_001144965:exon13:c.C704G:p.P235R;NEDD4L:NM_001144966:exon12:c.C704G:p.P235R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C704G:p.P235R;ENSG00000049759:ENST00000357895:exon13:c.C1043G:p.P348R;ENSG00000049759:ENST00000431212:exon12:c.C704G:p.P235R;ENSG00000049759:ENST00000400345:exon13:c.C1067G:p.P356R;	0.0223634299732871	0.14
18	56002711	C	T	18	58335479	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C704T:p.P235L;NEDD4L:NM_001144967:exon13:c.C1067T:p.P356L;NEDD4L:NM_001144968:exon13:c.C1043T:p.P348L;NEDD4L:NM_001144965:exon13:c.C704T:p.P235L;NEDD4L:NM_001144966:exon12:c.C704T:p.P235L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C704T:p.P235L;ENSG00000049759:ENST00000357895:exon13:c.C1043T:p.P348L;ENSG00000049759:ENST00000431212:exon12:c.C704T:p.P235L;ENSG00000049759:ENST00000400345:exon13:c.C1067T:p.P356L;	0.397620919257858	0.388
18	56002767	A	C	18	58335535	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.A760C:p.T254P;NEDD4L:NM_001144967:exon13:c.A1123C:p.T375P;NEDD4L:NM_001144968:exon13:c.A1099C:p.T367P;NEDD4L:NM_001144965:exon13:c.A760C:p.T254P;NEDD4L:NM_001144966:exon12:c.A760C:p.T254P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.A760C:p.T254P;ENSG00000049759:ENST00000357895:exon13:c.A1099C:p.T367P;ENSG00000049759:ENST00000431212:exon12:c.A760C:p.T254P;ENSG00000049759:ENST00000400345:exon13:c.A1123C:p.T375P;	0.850433379378515	0.694
18	56002767	A	G	18	58335535	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.A760G:p.T254A;NEDD4L:NM_001144967:exon13:c.A1123G:p.T375A;NEDD4L:NM_001144968:exon13:c.A1099G:p.T367A;NEDD4L:NM_001144965:exon13:c.A760G:p.T254A;NEDD4L:NM_001144966:exon12:c.A760G:p.T254A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.A760G:p.T254A;ENSG00000049759:ENST00000357895:exon13:c.A1099G:p.T367A;ENSG00000049759:ENST00000431212:exon12:c.A760G:p.T254A;ENSG00000049759:ENST00000400345:exon13:c.A1123G:p.T375A;	0.876012441249952	0.572
18	56002767	A	T	18	58335535	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.A760T:p.T254S;NEDD4L:NM_001144967:exon13:c.A1123T:p.T375S;NEDD4L:NM_001144968:exon13:c.A1099T:p.T367S;NEDD4L:NM_001144965:exon13:c.A760T:p.T254S;NEDD4L:NM_001144966:exon12:c.A760T:p.T254S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.A760T:p.T254S;ENSG00000049759:ENST00000357895:exon13:c.A1099T:p.T367S;ENSG00000049759:ENST00000431212:exon12:c.A760T:p.T254S;ENSG00000049759:ENST00000400345:exon13:c.A1123T:p.T375S;	0.99909786080195	0.696
18	56002768	C	A	18	58335536	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C761A:p.T254K;NEDD4L:NM_001144967:exon13:c.C1124A:p.T375K;NEDD4L:NM_001144968:exon13:c.C1100A:p.T367K;NEDD4L:NM_001144965:exon13:c.C761A:p.T254K;NEDD4L:NM_001144966:exon12:c.C761A:p.T254K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C761A:p.T254K;ENSG00000049759:ENST00000357895:exon13:c.C1100A:p.T367K;ENSG00000049759:ENST00000431212:exon12:c.C761A:p.T254K;ENSG00000049759:ENST00000400345:exon13:c.C1124A:p.T375K;	0.539119132675604	0.496
18	56002768	C	G	18	58335536	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C761G:p.T254R;NEDD4L:NM_001144967:exon13:c.C1124G:p.T375R;NEDD4L:NM_001144968:exon13:c.C1100G:p.T367R;NEDD4L:NM_001144965:exon13:c.C761G:p.T254R;NEDD4L:NM_001144966:exon12:c.C761G:p.T254R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C761G:p.T254R;ENSG00000049759:ENST00000357895:exon13:c.C1100G:p.T367R;ENSG00000049759:ENST00000431212:exon12:c.C761G:p.T254R;ENSG00000049759:ENST00000400345:exon13:c.C1124G:p.T375R;	0.112353083890407	0.278
18	56002768	C	T	18	58335536	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144964:exon13:c.C761T:p.T254M;NEDD4L:NM_001144967:exon13:c.C1124T:p.T375M;NEDD4L:NM_001144968:exon13:c.C1100T:p.T367M;NEDD4L:NM_001144965:exon13:c.C761T:p.T254M;NEDD4L:NM_001144966:exon12:c.C761T:p.T254M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.C761T:p.T254M;ENSG00000049759:ENST00000357895:exon13:c.C1100T:p.T367M;ENSG00000049759:ENST00000431212:exon12:c.C761T:p.T254M;ENSG00000049759:ENST00000400345:exon13:c.C1124T:p.T375M;	0.540506642792981	0.432
18	56002769	G	A	18	58335537	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144964:exon13:c.G762A:p.T254T;NEDD4L:NM_001144967:exon13:c.G1125A:p.T375T;NEDD4L:NM_001144968:exon13:c.G1101A:p.T367T;NEDD4L:NM_001144965:exon13:c.G762A:p.T254T;NEDD4L:NM_001144966:exon12:c.G762A:p.T254T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.G762A:p.T254T;ENSG00000049759:ENST00000357895:exon13:c.G1101A:p.T367T;ENSG00000049759:ENST00000431212:exon12:c.G762A:p.T254T;ENSG00000049759:ENST00000400345:exon13:c.G1125A:p.T375T;	0.999992627501794	0.988
18	56002769	G	C	18	58335537	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144964:exon13:c.G762C:p.T254T;NEDD4L:NM_001144967:exon13:c.G1125C:p.T375T;NEDD4L:NM_001144968:exon13:c.G1101C:p.T367T;NEDD4L:NM_001144965:exon13:c.G762C:p.T254T;NEDD4L:NM_001144966:exon12:c.G762C:p.T254T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.G762C:p.T254T;ENSG00000049759:ENST00000357895:exon13:c.G1101C:p.T367T;ENSG00000049759:ENST00000431212:exon12:c.G762C:p.T254T;ENSG00000049759:ENST00000400345:exon13:c.G1125C:p.T375T;	0.999992605188245	0.996
18	56002769	G	T	18	58335537	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144964:exon13:c.G762T:p.T254T;NEDD4L:NM_001144967:exon13:c.G1125T:p.T375T;NEDD4L:NM_001144968:exon13:c.G1101T:p.T367T;NEDD4L:NM_001144965:exon13:c.G762T:p.T254T;NEDD4L:NM_001144966:exon12:c.G762T:p.T254T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000456986:exon13:c.G762T:p.T254T;ENSG00000049759:ENST00000357895:exon13:c.G1101T:p.T367T;ENSG00000049759:ENST00000431212:exon12:c.G762T:p.T254T;ENSG00000049759:ENST00000400345:exon13:c.G1125T:p.T375T;	0.999974092163302	0.982
18	56002770	G	A	18	58335538	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1125+1G>A;NM_001144964:exon13:c.762+1G>A;NM_001144968:exon13:c.1101+1G>A;NM_001144965:exon13:c.762+1G>A;NM_001144966:exon12:c.762+1G>A)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1125+1G>A;ENST00000456986:exon13:c.762+1G>A;ENST00000357895:exon13:c.1101+1G>A;ENST00000431212:exon12:c.762+1G>A)	.	.	0.999990361384395	0.938
18	56002770	G	C	18	58335538	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1125+1G>C;NM_001144964:exon13:c.762+1G>C;NM_001144968:exon13:c.1101+1G>C;NM_001144965:exon13:c.762+1G>C;NM_001144966:exon12:c.762+1G>C)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1125+1G>C;ENST00000456986:exon13:c.762+1G>C;ENST00000357895:exon13:c.1101+1G>C;ENST00000431212:exon12:c.762+1G>C)	.	.	0.999990361384395	0.938
18	56002770	G	T	18	58335538	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1125+1G>T;NM_001144964:exon13:c.762+1G>T;NM_001144968:exon13:c.1101+1G>T;NM_001144965:exon13:c.762+1G>T;NM_001144966:exon12:c.762+1G>T)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1125+1G>T;ENST00000456986:exon13:c.762+1G>T;ENST00000357895:exon13:c.1101+1G>T;ENST00000431212:exon12:c.762+1G>T)	.	.	0.999990361384395	0.938
18	56002771	T	A	18	58335539	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1125+2T>A;NM_001144964:exon13:c.762+2T>A;NM_001144968:exon13:c.1101+2T>A;NM_001144965:exon13:c.762+2T>A;NM_001144966:exon12:c.762+2T>A)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1125+2T>A;ENST00000456986:exon13:c.762+2T>A;ENST00000357895:exon13:c.1101+2T>A;ENST00000431212:exon12:c.762+2T>A)	.	.	0.999988247793601	0.932
18	56002771	T	C	18	58335539	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1125+2T>C;NM_001144964:exon13:c.762+2T>C;NM_001144968:exon13:c.1101+2T>C;NM_001144965:exon13:c.762+2T>C;NM_001144966:exon12:c.762+2T>C)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1125+2T>C;ENST00000456986:exon13:c.762+2T>C;ENST00000357895:exon13:c.1101+2T>C;ENST00000431212:exon12:c.762+2T>C)	.	.	0.999934643991786	0.888
18	56002771	T	G	18	58335539	y	y	splicing	NEDD4L(NM_001144967:exon13:c.1125+2T>G;NM_001144964:exon13:c.762+2T>G;NM_001144968:exon13:c.1101+2T>G;NM_001144965:exon13:c.762+2T>G;NM_001144966:exon12:c.762+2T>G)	.	.	splicing	ENSG00000049759(ENST00000400345:exon13:c.1125+2T>G;ENST00000456986:exon13:c.762+2T>G;ENST00000357895:exon13:c.1101+2T>G;ENST00000431212:exon12:c.762+2T>G)	.	.	0.999988247793601	0.932
18	56002772	A	C	18	58335540	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999959459774059	0.906
18	56002772	A	G	18	58335540	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999751798289277	0.938
18	56002772	A	T	18	58335540	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999968480573245	0.884
18	56002773	A	C	18	58335541	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.988344348619937	0.728
18	56002773	A	G	18	58335541	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999220309874872	0.928
18	56002773	A	T	18	58335541	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.988382949965935	0.794
18	56002774	T	A	18	58335542	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.398357064437272	0.546
18	56002774	T	C	18	58335542	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0496214387418465	0.348
18	56002774	T	G	18	58335542	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0119998717371183	0.092
18	56002775	G	A	18	58335543	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0751189619162652	0.214
18	56002775	G	C	18	58335543	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.10121857491682	0.344
18	56002775	G	T	18	58335543	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0105556018000162	0.046
18	56002776	A	C	18	58335544	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00510129130731462	0.062
18	56002776	A	G	18	58335544	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00594201171558703	0.084
18	56002776	A	T	18	58335544	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.036955272426609	0.12
18	56002777	T	A	18	58335545	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.36551044439737E-4	0.002
18	56002777	T	C	18	58335545	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.41611190290672E-5	0.002
18	56002777	T	G	18	58335545	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.87029524865066E-4	0.002
18	56008258	T	A	18	58341026	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996971367977582	0.824
18	56008258	T	C	18	58341026	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.422349685003663	0.506
18	56008258	T	G	18	58341026	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.995481798965369	0.814
18	56008259	T	A	18	58341027	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999749383410834	0.866
18	56008259	T	C	18	58341027	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0190746181726828	0.338
18	56008259	T	G	18	58341027	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.911005321583912	0.706
18	56008260	G	A	18	58341028	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0932066044530654	0.288
18	56008260	G	C	18	58341028	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0148749574340758	0.492
18	56008260	G	T	18	58341028	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0297283303429108	0.52
18	56008261	C	A	18	58341029	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.961011134995208	0.642
18	56008261	C	G	18	58341029	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.962996950984602	0.606
18	56008261	C	T	18	58341029	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.961680615867716	0.812
18	56008262	A	C	18	58341030	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.07846793052646E-4	0.072
18	56008262	A	G	18	58341030	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.13159143598562E-4	0.166
18	56008262	A	T	18	58341030	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.96949588634877E-5	0.076
18	56008263	C	A	18	58341031	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.657703772143293	0.484
18	56008263	C	G	18	58341031	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999662643824978	0.916
18	56008263	C	T	18	58341031	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00918332945879578	0.124
18	56008264	A	C	18	58341032	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00285961626558271	0.06
18	56008264	A	G	18	58341032	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0156757352978385	0.182
18	56008264	A	T	18	58341032	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00285961626558271	0.092
18	56008265	A	C	18	58341033	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.63518884918641E-4	0.15
18	56008265	A	G	18	58341033	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999653073732641	0.946
18	56008265	A	T	18	58341033	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.13724698551258E-4	0.192
18	56008266	A	C	18	58341034	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0658979020531951	0.366
18	56008266	A	G	18	58341034	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999037187701515	0.924
18	56008266	A	T	18	58341034	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.148077501781323	0.486
18	56008267	C	A	18	58341035	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999946080224515	0.886
18	56008267	C	G	18	58341035	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999987880225743	0.914
18	56008267	C	T	18	58341035	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.989296787857566	0.568
18	56008268	A	C	18	58341036	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1126-2A>C;NM_015277:exon13:c.1066-2A>C;NM_001144964:exon14:c.763-2A>C;NM_001144968:exon14:c.1102-2A>C;NM_001144965:exon14:c.763-2A>C;NM_001144971:exon14:c.703-2A>C;NM_001144969:exon13:c.1042-2A>C;NM_001144970:exon12:c.703-2A>C;NM_001144966:exon13:c.763-2A>C)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1126-2A>C;ENST00000256832:exon13:c.703-2A>C;ENST00000382850:exon13:c.1066-2A>C;ENST00000456986:exon14:c.763-2A>C;ENST00000357895:exon14:c.1102-2A>C;ENST00000435432:exon14:c.703-2A>C;ENST00000586263:exon13:c.1042-2A>C;ENST00000456173:exon12:c.703-2A>C;ENST00000431212:exon13:c.763-2A>C)	.	.	0.999914511980801	0.868
18	56008268	A	G	18	58341036	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1126-2A>G;NM_015277:exon13:c.1066-2A>G;NM_001144964:exon14:c.763-2A>G;NM_001144968:exon14:c.1102-2A>G;NM_001144965:exon14:c.763-2A>G;NM_001144971:exon14:c.703-2A>G;NM_001144969:exon13:c.1042-2A>G;NM_001144970:exon12:c.703-2A>G;NM_001144966:exon13:c.763-2A>G)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1126-2A>G;ENST00000256832:exon13:c.703-2A>G;ENST00000382850:exon13:c.1066-2A>G;ENST00000456986:exon14:c.763-2A>G;ENST00000357895:exon14:c.1102-2A>G;ENST00000435432:exon14:c.703-2A>G;ENST00000586263:exon13:c.1042-2A>G;ENST00000456173:exon12:c.703-2A>G;ENST00000431212:exon13:c.763-2A>G)	.	.	0.999914511980801	0.868
18	56008268	A	T	18	58341036	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1126-2A>T;NM_015277:exon13:c.1066-2A>T;NM_001144964:exon14:c.763-2A>T;NM_001144968:exon14:c.1102-2A>T;NM_001144965:exon14:c.763-2A>T;NM_001144971:exon14:c.703-2A>T;NM_001144969:exon13:c.1042-2A>T;NM_001144970:exon12:c.703-2A>T;NM_001144966:exon13:c.763-2A>T)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1126-2A>T;ENST00000256832:exon13:c.703-2A>T;ENST00000382850:exon13:c.1066-2A>T;ENST00000456986:exon14:c.763-2A>T;ENST00000357895:exon14:c.1102-2A>T;ENST00000435432:exon14:c.703-2A>T;ENST00000586263:exon13:c.1042-2A>T;ENST00000456173:exon12:c.703-2A>T;ENST00000431212:exon13:c.763-2A>T)	.	.	0.999914511980801	0.87
18	56008269	G	A	18	58341037	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1126-1G>A;NM_015277:exon13:c.1066-1G>A;NM_001144964:exon14:c.763-1G>A;NM_001144968:exon14:c.1102-1G>A;NM_001144965:exon14:c.763-1G>A;NM_001144971:exon14:c.703-1G>A;NM_001144969:exon13:c.1042-1G>A;NM_001144970:exon12:c.703-1G>A;NM_001144966:exon13:c.763-1G>A)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1126-1G>A;ENST00000256832:exon13:c.703-1G>A;ENST00000382850:exon13:c.1066-1G>A;ENST00000456986:exon14:c.763-1G>A;ENST00000357895:exon14:c.1102-1G>A;ENST00000435432:exon14:c.703-1G>A;ENST00000586263:exon13:c.1042-1G>A;ENST00000456173:exon12:c.703-1G>A;ENST00000431212:exon13:c.763-1G>A)	.	.	0.999980697831002	0.864
18	56008269	G	C	18	58341037	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1126-1G>C;NM_015277:exon13:c.1066-1G>C;NM_001144964:exon14:c.763-1G>C;NM_001144968:exon14:c.1102-1G>C;NM_001144965:exon14:c.763-1G>C;NM_001144971:exon14:c.703-1G>C;NM_001144969:exon13:c.1042-1G>C;NM_001144970:exon12:c.703-1G>C;NM_001144966:exon13:c.763-1G>C)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1126-1G>C;ENST00000256832:exon13:c.703-1G>C;ENST00000382850:exon13:c.1066-1G>C;ENST00000456986:exon14:c.763-1G>C;ENST00000357895:exon14:c.1102-1G>C;ENST00000435432:exon14:c.703-1G>C;ENST00000586263:exon13:c.1042-1G>C;ENST00000456173:exon12:c.703-1G>C;ENST00000431212:exon13:c.763-1G>C)	.	.	0.999980697831002	0.862
18	56008269	G	T	18	58341037	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1126-1G>T;NM_015277:exon13:c.1066-1G>T;NM_001144964:exon14:c.763-1G>T;NM_001144968:exon14:c.1102-1G>T;NM_001144965:exon14:c.763-1G>T;NM_001144971:exon14:c.703-1G>T;NM_001144969:exon13:c.1042-1G>T;NM_001144970:exon12:c.703-1G>T;NM_001144966:exon13:c.763-1G>T)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1126-1G>T;ENST00000256832:exon13:c.703-1G>T;ENST00000382850:exon13:c.1066-1G>T;ENST00000456986:exon14:c.763-1G>T;ENST00000357895:exon14:c.1102-1G>T;ENST00000435432:exon14:c.703-1G>T;ENST00000586263:exon13:c.1042-1G>T;ENST00000456173:exon12:c.703-1G>T;ENST00000431212:exon13:c.763-1G>T)	.	.	0.999980697831002	0.864
18	56008270	C	A	18	58341038	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.C1042A:p.P348T;NEDD4L:NM_001144964:exon14:c.C763A:p.P255T;NEDD4L:NM_015277:exon13:c.C1066A:p.P356T;NEDD4L:NM_001144967:exon14:c.C1126A:p.P376T;NEDD4L:NM_001144971:exon14:c.C703A:p.P235T;NEDD4L:NM_001144968:exon14:c.C1102A:p.P368T;NEDD4L:NM_001144970:exon12:c.C703A:p.P235T;NEDD4L:NM_001144965:exon14:c.C763A:p.P255T;NEDD4L:NM_001144966:exon13:c.C763A:p.P255T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.C703A:p.P235T;ENSG00000049759:ENST00000382850:exon13:c.C1066A:p.P356T;ENSG00000049759:ENST00000456986:exon14:c.C763A:p.P255T;ENSG00000049759:ENST00000456173:exon12:c.C703A:p.P235T;ENSG00000049759:ENST00000357895:exon14:c.C1102A:p.P368T;ENSG00000049759:ENST00000256832:exon13:c.C703A:p.P235T;ENSG00000049759:ENST00000431212:exon13:c.C763A:p.P255T;ENSG00000049759:ENST00000400345:exon14:c.C1126A:p.P376T;ENSG00000049759:ENST00000586263:exon13:c.C1042A:p.P348T;	0.964329633254929	0.784
18	56008270	C	G	18	58341038	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.C1042G:p.P348A;NEDD4L:NM_001144964:exon14:c.C763G:p.P255A;NEDD4L:NM_015277:exon13:c.C1066G:p.P356A;NEDD4L:NM_001144967:exon14:c.C1126G:p.P376A;NEDD4L:NM_001144971:exon14:c.C703G:p.P235A;NEDD4L:NM_001144968:exon14:c.C1102G:p.P368A;NEDD4L:NM_001144970:exon12:c.C703G:p.P235A;NEDD4L:NM_001144965:exon14:c.C763G:p.P255A;NEDD4L:NM_001144966:exon13:c.C763G:p.P255A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.C703G:p.P235A;ENSG00000049759:ENST00000382850:exon13:c.C1066G:p.P356A;ENSG00000049759:ENST00000456986:exon14:c.C763G:p.P255A;ENSG00000049759:ENST00000456173:exon12:c.C703G:p.P235A;ENSG00000049759:ENST00000357895:exon14:c.C1102G:p.P368A;ENSG00000049759:ENST00000256832:exon13:c.C703G:p.P235A;ENSG00000049759:ENST00000431212:exon13:c.C763G:p.P255A;ENSG00000049759:ENST00000400345:exon14:c.C1126G:p.P376A;ENSG00000049759:ENST00000586263:exon13:c.C1042G:p.P348A;	0.977118417771099	0.664
18	56008270	C	T	18	58341038	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.C1042T:p.P348S;NEDD4L:NM_001144964:exon14:c.C763T:p.P255S;NEDD4L:NM_015277:exon13:c.C1066T:p.P356S;NEDD4L:NM_001144967:exon14:c.C1126T:p.P376S;NEDD4L:NM_001144971:exon14:c.C703T:p.P235S;NEDD4L:NM_001144968:exon14:c.C1102T:p.P368S;NEDD4L:NM_001144970:exon12:c.C703T:p.P235S;NEDD4L:NM_001144965:exon14:c.C763T:p.P255S;NEDD4L:NM_001144966:exon13:c.C763T:p.P255S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.C703T:p.P235S;ENSG00000049759:ENST00000382850:exon13:c.C1066T:p.P356S;ENSG00000049759:ENST00000456986:exon14:c.C763T:p.P255S;ENSG00000049759:ENST00000456173:exon12:c.C703T:p.P235S;ENSG00000049759:ENST00000357895:exon14:c.C1102T:p.P368S;ENSG00000049759:ENST00000256832:exon13:c.C703T:p.P235S;ENSG00000049759:ENST00000431212:exon13:c.C763T:p.P255S;ENSG00000049759:ENST00000400345:exon14:c.C1126T:p.P376S;ENSG00000049759:ENST00000586263:exon13:c.C1042T:p.P348S;	0.988676167221507	0.868
18	56008271	C	A	18	58341039	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.C1043A:p.P348Q;NEDD4L:NM_001144964:exon14:c.C764A:p.P255Q;NEDD4L:NM_015277:exon13:c.C1067A:p.P356Q;NEDD4L:NM_001144967:exon14:c.C1127A:p.P376Q;NEDD4L:NM_001144971:exon14:c.C704A:p.P235Q;NEDD4L:NM_001144968:exon14:c.C1103A:p.P368Q;NEDD4L:NM_001144970:exon12:c.C704A:p.P235Q;NEDD4L:NM_001144965:exon14:c.C764A:p.P255Q;NEDD4L:NM_001144966:exon13:c.C764A:p.P255Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.C704A:p.P235Q;ENSG00000049759:ENST00000382850:exon13:c.C1067A:p.P356Q;ENSG00000049759:ENST00000456986:exon14:c.C764A:p.P255Q;ENSG00000049759:ENST00000456173:exon12:c.C704A:p.P235Q;ENSG00000049759:ENST00000357895:exon14:c.C1103A:p.P368Q;ENSG00000049759:ENST00000256832:exon13:c.C704A:p.P235Q;ENSG00000049759:ENST00000431212:exon13:c.C764A:p.P255Q;ENSG00000049759:ENST00000400345:exon14:c.C1127A:p.P376Q;ENSG00000049759:ENST00000586263:exon13:c.C1043A:p.P348Q;	0.987916718744598	0.686
18	56008271	C	G	18	58341039	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.C1043G:p.P348R;NEDD4L:NM_001144964:exon14:c.C764G:p.P255R;NEDD4L:NM_015277:exon13:c.C1067G:p.P356R;NEDD4L:NM_001144967:exon14:c.C1127G:p.P376R;NEDD4L:NM_001144971:exon14:c.C704G:p.P235R;NEDD4L:NM_001144968:exon14:c.C1103G:p.P368R;NEDD4L:NM_001144970:exon12:c.C704G:p.P235R;NEDD4L:NM_001144965:exon14:c.C764G:p.P255R;NEDD4L:NM_001144966:exon13:c.C764G:p.P255R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.C704G:p.P235R;ENSG00000049759:ENST00000382850:exon13:c.C1067G:p.P356R;ENSG00000049759:ENST00000456986:exon14:c.C764G:p.P255R;ENSG00000049759:ENST00000456173:exon12:c.C704G:p.P235R;ENSG00000049759:ENST00000357895:exon14:c.C1103G:p.P368R;ENSG00000049759:ENST00000256832:exon13:c.C704G:p.P235R;ENSG00000049759:ENST00000431212:exon13:c.C764G:p.P255R;ENSG00000049759:ENST00000400345:exon14:c.C1127G:p.P376R;ENSG00000049759:ENST00000586263:exon13:c.C1043G:p.P348R;	0.981787299952354	0.762
18	56008271	C	T	18	58341039	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.C1043T:p.P348L;NEDD4L:NM_001144964:exon14:c.C764T:p.P255L;NEDD4L:NM_015277:exon13:c.C1067T:p.P356L;NEDD4L:NM_001144967:exon14:c.C1127T:p.P376L;NEDD4L:NM_001144971:exon14:c.C704T:p.P235L;NEDD4L:NM_001144968:exon14:c.C1103T:p.P368L;NEDD4L:NM_001144970:exon12:c.C704T:p.P235L;NEDD4L:NM_001144965:exon14:c.C764T:p.P255L;NEDD4L:NM_001144966:exon13:c.C764T:p.P255L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.C704T:p.P235L;ENSG00000049759:ENST00000382850:exon13:c.C1067T:p.P356L;ENSG00000049759:ENST00000456986:exon14:c.C764T:p.P255L;ENSG00000049759:ENST00000456173:exon12:c.C704T:p.P235L;ENSG00000049759:ENST00000357895:exon14:c.C1103T:p.P368L;ENSG00000049759:ENST00000256832:exon13:c.C704T:p.P235L;ENSG00000049759:ENST00000431212:exon13:c.C764T:p.P255L;ENSG00000049759:ENST00000400345:exon14:c.C1127T:p.P376L;ENSG00000049759:ENST00000586263:exon13:c.C1043T:p.P348L;	0.984843029571041	0.818
18	56008399	C	A	18	58341167	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.C1171A:p.Q391K;NEDD4L:NM_001144964:exon14:c.C892A:p.Q298K;NEDD4L:NM_015277:exon13:c.C1195A:p.Q399K;NEDD4L:NM_001144967:exon14:c.C1255A:p.Q419K;NEDD4L:NM_001144971:exon14:c.C832A:p.Q278K;NEDD4L:NM_001144968:exon14:c.C1231A:p.Q411K;NEDD4L:NM_001144970:exon12:c.C832A:p.Q278K;NEDD4L:NM_001144965:exon14:c.C892A:p.Q298K;NEDD4L:NM_001144966:exon13:c.C892A:p.Q298K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.C832A:p.Q278K;ENSG00000049759:ENST00000382850:exon13:c.C1195A:p.Q399K;ENSG00000049759:ENST00000456986:exon14:c.C892A:p.Q298K;ENSG00000049759:ENST00000456173:exon12:c.C832A:p.Q278K;ENSG00000049759:ENST00000357895:exon14:c.C1231A:p.Q411K;ENSG00000049759:ENST00000256832:exon13:c.C832A:p.Q278K;ENSG00000049759:ENST00000431212:exon13:c.C892A:p.Q298K;ENSG00000049759:ENST00000400345:exon14:c.C1255A:p.Q419K;ENSG00000049759:ENST00000586263:exon13:c.C1171A:p.Q391K;	0.940414222669096	0.844
18	56008399	C	G	18	58341167	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.C1171G:p.Q391E;NEDD4L:NM_001144964:exon14:c.C892G:p.Q298E;NEDD4L:NM_015277:exon13:c.C1195G:p.Q399E;NEDD4L:NM_001144967:exon14:c.C1255G:p.Q419E;NEDD4L:NM_001144971:exon14:c.C832G:p.Q278E;NEDD4L:NM_001144968:exon14:c.C1231G:p.Q411E;NEDD4L:NM_001144970:exon12:c.C832G:p.Q278E;NEDD4L:NM_001144965:exon14:c.C892G:p.Q298E;NEDD4L:NM_001144966:exon13:c.C892G:p.Q298E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.C832G:p.Q278E;ENSG00000049759:ENST00000382850:exon13:c.C1195G:p.Q399E;ENSG00000049759:ENST00000456986:exon14:c.C892G:p.Q298E;ENSG00000049759:ENST00000456173:exon12:c.C832G:p.Q278E;ENSG00000049759:ENST00000357895:exon14:c.C1231G:p.Q411E;ENSG00000049759:ENST00000256832:exon13:c.C832G:p.Q278E;ENSG00000049759:ENST00000431212:exon13:c.C892G:p.Q298E;ENSG00000049759:ENST00000400345:exon14:c.C1255G:p.Q419E;ENSG00000049759:ENST00000586263:exon13:c.C1171G:p.Q391E;	0.953034105232831	0.652
18	56008399	C	T	18	58341167	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon13:c.C1171T:p.Q391X;NEDD4L:NM_001144964:exon14:c.C892T:p.Q298X;NEDD4L:NM_015277:exon13:c.C1195T:p.Q399X;NEDD4L:NM_001144967:exon14:c.C1255T:p.Q419X;NEDD4L:NM_001144971:exon14:c.C832T:p.Q278X;NEDD4L:NM_001144968:exon14:c.C1231T:p.Q411X;NEDD4L:NM_001144970:exon12:c.C832T:p.Q278X;NEDD4L:NM_001144965:exon14:c.C892T:p.Q298X;NEDD4L:NM_001144966:exon13:c.C892T:p.Q298X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000435432:exon14:c.C832T:p.Q278X;ENSG00000049759:ENST00000382850:exon13:c.C1195T:p.Q399X;ENSG00000049759:ENST00000456986:exon14:c.C892T:p.Q298X;ENSG00000049759:ENST00000456173:exon12:c.C832T:p.Q278X;ENSG00000049759:ENST00000357895:exon14:c.C1231T:p.Q411X;ENSG00000049759:ENST00000256832:exon13:c.C832T:p.Q278X;ENSG00000049759:ENST00000431212:exon13:c.C892T:p.Q298X;ENSG00000049759:ENST00000400345:exon14:c.C1255T:p.Q419X;ENSG00000049759:ENST00000586263:exon13:c.C1171T:p.Q391X;	0.999379279242714	0.934
18	56008400	A	C	18	58341168	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.A1172C:p.Q391P;NEDD4L:NM_001144964:exon14:c.A893C:p.Q298P;NEDD4L:NM_015277:exon13:c.A1196C:p.Q399P;NEDD4L:NM_001144967:exon14:c.A1256C:p.Q419P;NEDD4L:NM_001144971:exon14:c.A833C:p.Q278P;NEDD4L:NM_001144968:exon14:c.A1232C:p.Q411P;NEDD4L:NM_001144970:exon12:c.A833C:p.Q278P;NEDD4L:NM_001144965:exon14:c.A893C:p.Q298P;NEDD4L:NM_001144966:exon13:c.A893C:p.Q298P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.A833C:p.Q278P;ENSG00000049759:ENST00000382850:exon13:c.A1196C:p.Q399P;ENSG00000049759:ENST00000456986:exon14:c.A893C:p.Q298P;ENSG00000049759:ENST00000456173:exon12:c.A833C:p.Q278P;ENSG00000049759:ENST00000357895:exon14:c.A1232C:p.Q411P;ENSG00000049759:ENST00000256832:exon13:c.A833C:p.Q278P;ENSG00000049759:ENST00000431212:exon13:c.A893C:p.Q298P;ENSG00000049759:ENST00000400345:exon14:c.A1256C:p.Q419P;ENSG00000049759:ENST00000586263:exon13:c.A1172C:p.Q391P;	0.998887282193833	0.956
18	56008400	A	G	18	58341168	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.A1172G:p.Q391R;NEDD4L:NM_001144964:exon14:c.A893G:p.Q298R;NEDD4L:NM_015277:exon13:c.A1196G:p.Q399R;NEDD4L:NM_001144967:exon14:c.A1256G:p.Q419R;NEDD4L:NM_001144971:exon14:c.A833G:p.Q278R;NEDD4L:NM_001144968:exon14:c.A1232G:p.Q411R;NEDD4L:NM_001144970:exon12:c.A833G:p.Q278R;NEDD4L:NM_001144965:exon14:c.A893G:p.Q298R;NEDD4L:NM_001144966:exon13:c.A893G:p.Q298R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.A833G:p.Q278R;ENSG00000049759:ENST00000382850:exon13:c.A1196G:p.Q399R;ENSG00000049759:ENST00000456986:exon14:c.A893G:p.Q298R;ENSG00000049759:ENST00000456173:exon12:c.A833G:p.Q278R;ENSG00000049759:ENST00000357895:exon14:c.A1232G:p.Q411R;ENSG00000049759:ENST00000256832:exon13:c.A833G:p.Q278R;ENSG00000049759:ENST00000431212:exon13:c.A893G:p.Q298R;ENSG00000049759:ENST00000400345:exon14:c.A1256G:p.Q419R;ENSG00000049759:ENST00000586263:exon13:c.A1172G:p.Q391R;	0.999589531300315	0.994
18	56008400	A	T	18	58341168	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.A1172T:p.Q391L;NEDD4L:NM_001144964:exon14:c.A893T:p.Q298L;NEDD4L:NM_015277:exon13:c.A1196T:p.Q399L;NEDD4L:NM_001144967:exon14:c.A1256T:p.Q419L;NEDD4L:NM_001144971:exon14:c.A833T:p.Q278L;NEDD4L:NM_001144968:exon14:c.A1232T:p.Q411L;NEDD4L:NM_001144970:exon12:c.A833T:p.Q278L;NEDD4L:NM_001144965:exon14:c.A893T:p.Q298L;NEDD4L:NM_001144966:exon13:c.A893T:p.Q298L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.A833T:p.Q278L;ENSG00000049759:ENST00000382850:exon13:c.A1196T:p.Q399L;ENSG00000049759:ENST00000456986:exon14:c.A893T:p.Q298L;ENSG00000049759:ENST00000456173:exon12:c.A833T:p.Q278L;ENSG00000049759:ENST00000357895:exon14:c.A1232T:p.Q411L;ENSG00000049759:ENST00000256832:exon13:c.A833T:p.Q278L;ENSG00000049759:ENST00000431212:exon13:c.A893T:p.Q298L;ENSG00000049759:ENST00000400345:exon14:c.A1256T:p.Q419L;ENSG00000049759:ENST00000586263:exon13:c.A1172T:p.Q391L;	0.999717489203661	0.99
18	56008401	G	A	18	58341169	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon13:c.G1173A:p.Q391Q;NEDD4L:NM_001144964:exon14:c.G894A:p.Q298Q;NEDD4L:NM_015277:exon13:c.G1197A:p.Q399Q;NEDD4L:NM_001144967:exon14:c.G1257A:p.Q419Q;NEDD4L:NM_001144971:exon14:c.G834A:p.Q278Q;NEDD4L:NM_001144968:exon14:c.G1233A:p.Q411Q;NEDD4L:NM_001144970:exon12:c.G834A:p.Q278Q;NEDD4L:NM_001144965:exon14:c.G894A:p.Q298Q;NEDD4L:NM_001144966:exon13:c.G894A:p.Q298Q;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.G834A:p.Q278Q;ENSG00000049759:ENST00000382850:exon13:c.G1197A:p.Q399Q;ENSG00000049759:ENST00000456986:exon14:c.G894A:p.Q298Q;ENSG00000049759:ENST00000456173:exon12:c.G834A:p.Q278Q;ENSG00000049759:ENST00000357895:exon14:c.G1233A:p.Q411Q;ENSG00000049759:ENST00000256832:exon13:c.G834A:p.Q278Q;ENSG00000049759:ENST00000431212:exon13:c.G894A:p.Q298Q;ENSG00000049759:ENST00000400345:exon14:c.G1257A:p.Q419Q;ENSG00000049759:ENST00000586263:exon13:c.G1173A:p.Q391Q;	0.99998880461553	0.966
18	56008401	G	C	18	58341169	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.G1173C:p.Q391H;NEDD4L:NM_001144964:exon14:c.G894C:p.Q298H;NEDD4L:NM_015277:exon13:c.G1197C:p.Q399H;NEDD4L:NM_001144967:exon14:c.G1257C:p.Q419H;NEDD4L:NM_001144971:exon14:c.G834C:p.Q278H;NEDD4L:NM_001144968:exon14:c.G1233C:p.Q411H;NEDD4L:NM_001144970:exon12:c.G834C:p.Q278H;NEDD4L:NM_001144965:exon14:c.G894C:p.Q298H;NEDD4L:NM_001144966:exon13:c.G894C:p.Q298H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.G834C:p.Q278H;ENSG00000049759:ENST00000382850:exon13:c.G1197C:p.Q399H;ENSG00000049759:ENST00000456986:exon14:c.G894C:p.Q298H;ENSG00000049759:ENST00000456173:exon12:c.G834C:p.Q278H;ENSG00000049759:ENST00000357895:exon14:c.G1233C:p.Q411H;ENSG00000049759:ENST00000256832:exon13:c.G834C:p.Q278H;ENSG00000049759:ENST00000431212:exon13:c.G894C:p.Q298H;ENSG00000049759:ENST00000400345:exon14:c.G1257C:p.Q419H;ENSG00000049759:ENST00000586263:exon13:c.G1173C:p.Q391H;	0.99999721398396	1.0
18	56008401	G	T	18	58341169	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon13:c.G1173T:p.Q391H;NEDD4L:NM_001144964:exon14:c.G894T:p.Q298H;NEDD4L:NM_015277:exon13:c.G1197T:p.Q399H;NEDD4L:NM_001144967:exon14:c.G1257T:p.Q419H;NEDD4L:NM_001144971:exon14:c.G834T:p.Q278H;NEDD4L:NM_001144968:exon14:c.G1233T:p.Q411H;NEDD4L:NM_001144970:exon12:c.G834T:p.Q278H;NEDD4L:NM_001144965:exon14:c.G894T:p.Q298H;NEDD4L:NM_001144966:exon13:c.G894T:p.Q298H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon14:c.G834T:p.Q278H;ENSG00000049759:ENST00000382850:exon13:c.G1197T:p.Q399H;ENSG00000049759:ENST00000456986:exon14:c.G894T:p.Q298H;ENSG00000049759:ENST00000456173:exon12:c.G834T:p.Q278H;ENSG00000049759:ENST00000357895:exon14:c.G1233T:p.Q411H;ENSG00000049759:ENST00000256832:exon13:c.G834T:p.Q278H;ENSG00000049759:ENST00000431212:exon13:c.G894T:p.Q298H;ENSG00000049759:ENST00000400345:exon14:c.G1257T:p.Q419H;ENSG00000049759:ENST00000586263:exon13:c.G1173T:p.Q391H;	0.999986238240261	1.0
18	56008402	G	A	18	58341170	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1257+1G>A;NM_015277:exon13:c.1197+1G>A;NM_001144964:exon14:c.894+1G>A;NM_001144968:exon14:c.1233+1G>A;NM_001144965:exon14:c.894+1G>A;NM_001144971:exon14:c.834+1G>A;NM_001144969:exon13:c.1173+1G>A;NM_001144970:exon12:c.834+1G>A;NM_001144966:exon13:c.894+1G>A)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1257+1G>A;ENST00000256832:exon13:c.834+1G>A;ENST00000382850:exon13:c.1197+1G>A;ENST00000456986:exon14:c.894+1G>A;ENST00000357895:exon14:c.1233+1G>A;ENST00000435432:exon14:c.834+1G>A;ENST00000586263:exon13:c.1173+1G>A;ENST00000456173:exon12:c.834+1G>A;ENST00000431212:exon13:c.894+1G>A)	.	.	0.999990361384395	0.938
18	56008402	G	C	18	58341170	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1257+1G>C;NM_015277:exon13:c.1197+1G>C;NM_001144964:exon14:c.894+1G>C;NM_001144968:exon14:c.1233+1G>C;NM_001144965:exon14:c.894+1G>C;NM_001144971:exon14:c.834+1G>C;NM_001144969:exon13:c.1173+1G>C;NM_001144970:exon12:c.834+1G>C;NM_001144966:exon13:c.894+1G>C)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1257+1G>C;ENST00000256832:exon13:c.834+1G>C;ENST00000382850:exon13:c.1197+1G>C;ENST00000456986:exon14:c.894+1G>C;ENST00000357895:exon14:c.1233+1G>C;ENST00000435432:exon14:c.834+1G>C;ENST00000586263:exon13:c.1173+1G>C;ENST00000456173:exon12:c.834+1G>C;ENST00000431212:exon13:c.894+1G>C)	.	.	0.999990361384395	0.938
18	56008402	G	T	18	58341170	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1257+1G>T;NM_015277:exon13:c.1197+1G>T;NM_001144964:exon14:c.894+1G>T;NM_001144968:exon14:c.1233+1G>T;NM_001144965:exon14:c.894+1G>T;NM_001144971:exon14:c.834+1G>T;NM_001144969:exon13:c.1173+1G>T;NM_001144970:exon12:c.834+1G>T;NM_001144966:exon13:c.894+1G>T)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1257+1G>T;ENST00000256832:exon13:c.834+1G>T;ENST00000382850:exon13:c.1197+1G>T;ENST00000456986:exon14:c.894+1G>T;ENST00000357895:exon14:c.1233+1G>T;ENST00000435432:exon14:c.834+1G>T;ENST00000586263:exon13:c.1173+1G>T;ENST00000456173:exon12:c.834+1G>T;ENST00000431212:exon13:c.894+1G>T)	.	.	0.999990361384395	0.938
18	56008403	T	A	18	58341171	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1257+2T>A;NM_015277:exon13:c.1197+2T>A;NM_001144964:exon14:c.894+2T>A;NM_001144968:exon14:c.1233+2T>A;NM_001144965:exon14:c.894+2T>A;NM_001144971:exon14:c.834+2T>A;NM_001144969:exon13:c.1173+2T>A;NM_001144970:exon12:c.834+2T>A;NM_001144966:exon13:c.894+2T>A)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1257+2T>A;ENST00000256832:exon13:c.834+2T>A;ENST00000382850:exon13:c.1197+2T>A;ENST00000456986:exon14:c.894+2T>A;ENST00000357895:exon14:c.1233+2T>A;ENST00000435432:exon14:c.834+2T>A;ENST00000586263:exon13:c.1173+2T>A;ENST00000456173:exon12:c.834+2T>A;ENST00000431212:exon13:c.894+2T>A)	.	.	0.999988247793601	0.93
18	56008403	T	C	18	58341171	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1257+2T>C;NM_015277:exon13:c.1197+2T>C;NM_001144964:exon14:c.894+2T>C;NM_001144968:exon14:c.1233+2T>C;NM_001144965:exon14:c.894+2T>C;NM_001144971:exon14:c.834+2T>C;NM_001144969:exon13:c.1173+2T>C;NM_001144970:exon12:c.834+2T>C;NM_001144966:exon13:c.894+2T>C)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1257+2T>C;ENST00000256832:exon13:c.834+2T>C;ENST00000382850:exon13:c.1197+2T>C;ENST00000456986:exon14:c.894+2T>C;ENST00000357895:exon14:c.1233+2T>C;ENST00000435432:exon14:c.834+2T>C;ENST00000586263:exon13:c.1173+2T>C;ENST00000456173:exon12:c.834+2T>C;ENST00000431212:exon13:c.894+2T>C)	.	.	0.995320650369382	0.704
18	56008403	T	G	18	58341171	y	y	splicing	NEDD4L(NM_001144967:exon14:c.1257+2T>G;NM_015277:exon13:c.1197+2T>G;NM_001144964:exon14:c.894+2T>G;NM_001144968:exon14:c.1233+2T>G;NM_001144965:exon14:c.894+2T>G;NM_001144971:exon14:c.834+2T>G;NM_001144969:exon13:c.1173+2T>G;NM_001144970:exon12:c.834+2T>G;NM_001144966:exon13:c.894+2T>G)	.	.	splicing	ENSG00000049759(ENST00000400345:exon14:c.1257+2T>G;ENST00000256832:exon13:c.834+2T>G;ENST00000382850:exon13:c.1197+2T>G;ENST00000456986:exon14:c.894+2T>G;ENST00000357895:exon14:c.1233+2T>G;ENST00000435432:exon14:c.834+2T>G;ENST00000586263:exon13:c.1173+2T>G;ENST00000456173:exon12:c.834+2T>G;ENST00000431212:exon13:c.894+2T>G)	.	.	0.999988247793601	0.93
18	56008404	A	C	18	58341172	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999334073985666	0.954
18	56008404	A	G	18	58341172	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999218480476655	0.856
18	56008404	A	T	18	58341172	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998903534183343	0.942
18	56008405	C	A	18	58341173	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.52447335907967E-4	0.07
18	56008405	C	G	18	58341173	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.03581080351103E-4	0.01
18	56008405	C	T	18	58341173	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.56444348685233E-5	0.024
18	56008406	G	A	18	58341174	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999799949513166	0.596
18	56008406	G	C	18	58341174	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997506053165232	0.736
18	56008406	G	T	18	58341174	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998418249866151	0.67
18	56008407	A	C	18	58341175	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.95497154581697E-4	0.05
18	56008407	A	G	18	58341175	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.01336875528728E-5	0.0
18	56008407	A	T	18	58341175	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.26320522007692E-5	0.004
18	56008408	A	C	18	58341176	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.27070642540614E-4	0.002
18	56008408	A	G	18	58341176	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.2609726694734E-4	0.0
18	56008408	A	T	18	58341176	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.14059708054902E-4	0.006
18	56008409	G	A	18	58341177	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00691136693773225	0.068
18	56008409	G	C	18	58341177	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0100156531824754	0.048
18	56008409	G	T	18	58341177	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0097581348326129	0.064
18	56008898	C	A	18	58341666	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.974959468362065	0.744
18	56008898	C	G	18	58341666	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.952974738853573	0.724
18	56008898	C	T	18	58341666	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.92145775007879	0.72
18	56008899	C	A	18	58341667	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.973398537544023	0.636
18	56008899	C	G	18	58341667	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.957580690391512	0.636
18	56008899	C	T	18	58341667	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.955741124503149	0.712
18	56008900	T	A	18	58341668	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999611085444021	0.95
18	56008900	T	C	18	58341668	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.360170764077436	0.496
18	56008900	T	G	18	58341668	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999258657550805	0.938
18	56008901	C	A	18	58341669	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.487019105056482	0.536
18	56008901	C	G	18	58341669	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.336510567831537	0.47
18	56008901	C	T	18	58341669	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.328999061823769	0.59
18	56008902	C	A	18	58341670	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.952810018337813	0.638
18	56008902	C	G	18	58341670	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.988728139871201	0.61
18	56008902	C	T	18	58341670	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00990211776556901	0.198
18	56008903	A	C	18	58341671	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.50691273047106E-4	0.03
18	56008903	A	G	18	58341671	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.51752610947325E-4	0.006
18	56008903	A	T	18	58341671	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.62496478084951E-4	0.044
18	56008904	A	C	18	58341672	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00122912297744143	0.12
18	56008904	A	G	18	58341672	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999419176677075	0.952
18	56008904	A	T	18	58341672	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.08259273588449E-4	0.07
18	56008905	A	C	18	58341673	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.82048486298897E-4	0.048
18	56008905	A	G	18	58341673	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999349767423809	0.948
18	56008905	A	T	18	58341673	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.92205190252425E-4	0.096
18	56008906	A	C	18	58341674	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.47037391814127E-4	0.09
18	56008906	A	G	18	58341674	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999601589352889	0.934
18	56008906	A	T	18	58341674	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.70778461575862E-4	0.07
18	56008907	T	A	18	58341675	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.707696603807008	0.598
18	56008907	T	C	18	58341675	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.94079509292591E-5	0.018
18	56008907	T	G	18	58341675	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.991033654689599	0.72
18	56008908	A	C	18	58341676	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1258-2A>C;NM_001243960:exon13:c.1066-2A>C;NM_015277:exon14:c.1198-2A>C;NM_001144964:exon15:c.895-2A>C;NM_001144968:exon15:c.1234-2A>C;NM_001144965:exon15:c.895-2A>C;NM_001144971:exon15:c.835-2A>C;NM_001144969:exon14:c.1174-2A>C;NM_001144970:exon13:c.835-2A>C;NM_001144966:exon14:c.895-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1066-2A>C;ENST00000400345:exon15:c.1258-2A>C;ENST00000256832:exon14:c.835-2A>C;ENST00000382850:exon14:c.1198-2A>C;ENST00000456986:exon15:c.895-2A>C;ENST00000357895:exon15:c.1234-2A>C;ENST00000435432:exon15:c.835-2A>C;ENST00000586263:exon14:c.1174-2A>C;ENST00000456173:exon13:c.835-2A>C;ENST00000431212:exon14:c.895-2A>C)	.	.	0.999979394981131	0.924
18	56008908	A	G	18	58341676	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1258-2A>G;NM_001243960:exon13:c.1066-2A>G;NM_015277:exon14:c.1198-2A>G;NM_001144964:exon15:c.895-2A>G;NM_001144968:exon15:c.1234-2A>G;NM_001144965:exon15:c.895-2A>G;NM_001144971:exon15:c.835-2A>G;NM_001144969:exon14:c.1174-2A>G;NM_001144970:exon13:c.835-2A>G;NM_001144966:exon14:c.895-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1066-2A>G;ENST00000400345:exon15:c.1258-2A>G;ENST00000256832:exon14:c.835-2A>G;ENST00000382850:exon14:c.1198-2A>G;ENST00000456986:exon15:c.895-2A>G;ENST00000357895:exon15:c.1234-2A>G;ENST00000435432:exon15:c.835-2A>G;ENST00000586263:exon14:c.1174-2A>G;ENST00000456173:exon13:c.835-2A>G;ENST00000431212:exon14:c.895-2A>G)	.	.	0.999979394981131	0.924
18	56008908	A	T	18	58341676	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1258-2A>T;NM_001243960:exon13:c.1066-2A>T;NM_015277:exon14:c.1198-2A>T;NM_001144964:exon15:c.895-2A>T;NM_001144968:exon15:c.1234-2A>T;NM_001144965:exon15:c.895-2A>T;NM_001144971:exon15:c.835-2A>T;NM_001144969:exon14:c.1174-2A>T;NM_001144970:exon13:c.835-2A>T;NM_001144966:exon14:c.895-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1066-2A>T;ENST00000400345:exon15:c.1258-2A>T;ENST00000256832:exon14:c.835-2A>T;ENST00000382850:exon14:c.1198-2A>T;ENST00000456986:exon15:c.895-2A>T;ENST00000357895:exon15:c.1234-2A>T;ENST00000435432:exon15:c.835-2A>T;ENST00000586263:exon14:c.1174-2A>T;ENST00000456173:exon13:c.835-2A>T;ENST00000431212:exon14:c.895-2A>T)	.	.	0.999979394981131	0.924
18	56008909	G	A	18	58341677	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1258-1G>A;NM_001243960:exon13:c.1066-1G>A;NM_015277:exon14:c.1198-1G>A;NM_001144964:exon15:c.895-1G>A;NM_001144968:exon15:c.1234-1G>A;NM_001144965:exon15:c.895-1G>A;NM_001144971:exon15:c.835-1G>A;NM_001144969:exon14:c.1174-1G>A;NM_001144970:exon13:c.835-1G>A;NM_001144966:exon14:c.895-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1066-1G>A;ENST00000400345:exon15:c.1258-1G>A;ENST00000256832:exon14:c.835-1G>A;ENST00000382850:exon14:c.1198-1G>A;ENST00000456986:exon15:c.895-1G>A;ENST00000357895:exon15:c.1234-1G>A;ENST00000435432:exon15:c.835-1G>A;ENST00000586263:exon14:c.1174-1G>A;ENST00000456173:exon13:c.835-1G>A;ENST00000431212:exon14:c.895-1G>A)	.	.	0.999982627682474	0.918
18	56008909	G	C	18	58341677	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1258-1G>C;NM_001243960:exon13:c.1066-1G>C;NM_015277:exon14:c.1198-1G>C;NM_001144964:exon15:c.895-1G>C;NM_001144968:exon15:c.1234-1G>C;NM_001144965:exon15:c.895-1G>C;NM_001144971:exon15:c.835-1G>C;NM_001144969:exon14:c.1174-1G>C;NM_001144970:exon13:c.835-1G>C;NM_001144966:exon14:c.895-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1066-1G>C;ENST00000400345:exon15:c.1258-1G>C;ENST00000256832:exon14:c.835-1G>C;ENST00000382850:exon14:c.1198-1G>C;ENST00000456986:exon15:c.895-1G>C;ENST00000357895:exon15:c.1234-1G>C;ENST00000435432:exon15:c.835-1G>C;ENST00000586263:exon14:c.1174-1G>C;ENST00000456173:exon13:c.835-1G>C;ENST00000431212:exon14:c.895-1G>C)	.	.	0.999982627682474	0.918
18	56008909	G	T	18	58341677	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1258-1G>T;NM_001243960:exon13:c.1066-1G>T;NM_015277:exon14:c.1198-1G>T;NM_001144964:exon15:c.895-1G>T;NM_001144968:exon15:c.1234-1G>T;NM_001144965:exon15:c.895-1G>T;NM_001144971:exon15:c.835-1G>T;NM_001144969:exon14:c.1174-1G>T;NM_001144970:exon13:c.835-1G>T;NM_001144966:exon14:c.895-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1066-1G>T;ENST00000400345:exon15:c.1258-1G>T;ENST00000256832:exon14:c.835-1G>T;ENST00000382850:exon14:c.1198-1G>T;ENST00000456986:exon15:c.895-1G>T;ENST00000357895:exon15:c.1234-1G>T;ENST00000435432:exon15:c.835-1G>T;ENST00000586263:exon14:c.1174-1G>T;ENST00000456173:exon13:c.835-1G>T;ENST00000431212:exon14:c.895-1G>T)	.	.	0.999982627682474	0.918
18	56008910	C	A	18	58341678	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.C1174A:p.L392I;NEDD4L:NM_001144964:exon15:c.C895A:p.L299I;NEDD4L:NM_015277:exon14:c.C1198A:p.L400I;NEDD4L:NM_001144967:exon15:c.C1258A:p.L420I;NEDD4L:NM_001144971:exon15:c.C835A:p.L279I;NEDD4L:NM_001144968:exon15:c.C1234A:p.L412I;NEDD4L:NM_001144970:exon13:c.C835A:p.L279I;NEDD4L:NM_001144965:exon15:c.C895A:p.L299I;NEDD4L:NM_001144966:exon14:c.C895A:p.L299I;NEDD4L:NM_001243960:exon13:c.C1066A:p.L356I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.C835A:p.L279I;ENSG00000049759:ENST00000382850:exon14:c.C1198A:p.L400I;ENSG00000049759:ENST00000456986:exon15:c.C895A:p.L299I;ENSG00000049759:ENST00000456173:exon13:c.C835A:p.L279I;ENSG00000049759:ENST00000357895:exon15:c.C1234A:p.L412I;ENSG00000049759:ENST00000256832:exon14:c.C835A:p.L279I;ENSG00000049759:ENST00000431212:exon14:c.C895A:p.L299I;ENSG00000049759:ENST00000356462:exon13:c.C1066A:p.L356I;ENSG00000049759:ENST00000400345:exon15:c.C1258A:p.L420I;ENSG00000049759:ENST00000586263:exon14:c.C1174A:p.L392I;	0.413372914063142	0.538
18	56008910	C	G	18	58341678	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.C1174G:p.L392V;NEDD4L:NM_001144964:exon15:c.C895G:p.L299V;NEDD4L:NM_015277:exon14:c.C1198G:p.L400V;NEDD4L:NM_001144967:exon15:c.C1258G:p.L420V;NEDD4L:NM_001144971:exon15:c.C835G:p.L279V;NEDD4L:NM_001144968:exon15:c.C1234G:p.L412V;NEDD4L:NM_001144970:exon13:c.C835G:p.L279V;NEDD4L:NM_001144965:exon15:c.C895G:p.L299V;NEDD4L:NM_001144966:exon14:c.C895G:p.L299V;NEDD4L:NM_001243960:exon13:c.C1066G:p.L356V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.C835G:p.L279V;ENSG00000049759:ENST00000382850:exon14:c.C1198G:p.L400V;ENSG00000049759:ENST00000456986:exon15:c.C895G:p.L299V;ENSG00000049759:ENST00000456173:exon13:c.C835G:p.L279V;ENSG00000049759:ENST00000357895:exon15:c.C1234G:p.L412V;ENSG00000049759:ENST00000256832:exon14:c.C835G:p.L279V;ENSG00000049759:ENST00000431212:exon14:c.C895G:p.L299V;ENSG00000049759:ENST00000356462:exon13:c.C1066G:p.L356V;ENSG00000049759:ENST00000400345:exon15:c.C1258G:p.L420V;ENSG00000049759:ENST00000586263:exon14:c.C1174G:p.L392V;	0.00362976169819872	0.114
18	56008910	C	T	18	58341678	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.C1174T:p.L392F;NEDD4L:NM_001144964:exon15:c.C895T:p.L299F;NEDD4L:NM_015277:exon14:c.C1198T:p.L400F;NEDD4L:NM_001144967:exon15:c.C1258T:p.L420F;NEDD4L:NM_001144971:exon15:c.C835T:p.L279F;NEDD4L:NM_001144968:exon15:c.C1234T:p.L412F;NEDD4L:NM_001144970:exon13:c.C835T:p.L279F;NEDD4L:NM_001144965:exon15:c.C895T:p.L299F;NEDD4L:NM_001144966:exon14:c.C895T:p.L299F;NEDD4L:NM_001243960:exon13:c.C1066T:p.L356F;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.C835T:p.L279F;ENSG00000049759:ENST00000382850:exon14:c.C1198T:p.L400F;ENSG00000049759:ENST00000456986:exon15:c.C895T:p.L299F;ENSG00000049759:ENST00000456173:exon13:c.C835T:p.L279F;ENSG00000049759:ENST00000357895:exon15:c.C1234T:p.L412F;ENSG00000049759:ENST00000256832:exon14:c.C835T:p.L279F;ENSG00000049759:ENST00000431212:exon14:c.C895T:p.L299F;ENSG00000049759:ENST00000356462:exon13:c.C1066T:p.L356F;ENSG00000049759:ENST00000400345:exon15:c.C1258T:p.L420F;ENSG00000049759:ENST00000586263:exon14:c.C1174T:p.L392F;	0.040209254416309	0.268
18	56008911	T	A	18	58341679	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.T1175A:p.L392H;NEDD4L:NM_001144964:exon15:c.T896A:p.L299H;NEDD4L:NM_015277:exon14:c.T1199A:p.L400H;NEDD4L:NM_001144967:exon15:c.T1259A:p.L420H;NEDD4L:NM_001144971:exon15:c.T836A:p.L279H;NEDD4L:NM_001144968:exon15:c.T1235A:p.L412H;NEDD4L:NM_001144970:exon13:c.T836A:p.L279H;NEDD4L:NM_001144965:exon15:c.T896A:p.L299H;NEDD4L:NM_001144966:exon14:c.T896A:p.L299H;NEDD4L:NM_001243960:exon13:c.T1067A:p.L356H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.T836A:p.L279H;ENSG00000049759:ENST00000382850:exon14:c.T1199A:p.L400H;ENSG00000049759:ENST00000456986:exon15:c.T896A:p.L299H;ENSG00000049759:ENST00000456173:exon13:c.T836A:p.L279H;ENSG00000049759:ENST00000357895:exon15:c.T1235A:p.L412H;ENSG00000049759:ENST00000256832:exon14:c.T836A:p.L279H;ENSG00000049759:ENST00000431212:exon14:c.T896A:p.L299H;ENSG00000049759:ENST00000356462:exon13:c.T1067A:p.L356H;ENSG00000049759:ENST00000400345:exon15:c.T1259A:p.L420H;ENSG00000049759:ENST00000586263:exon14:c.T1175A:p.L392H;	0.0048656566116485	0.144
18	56008911	T	C	18	58341679	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.T1175C:p.L392P;NEDD4L:NM_001144964:exon15:c.T896C:p.L299P;NEDD4L:NM_015277:exon14:c.T1199C:p.L400P;NEDD4L:NM_001144967:exon15:c.T1259C:p.L420P;NEDD4L:NM_001144971:exon15:c.T836C:p.L279P;NEDD4L:NM_001144968:exon15:c.T1235C:p.L412P;NEDD4L:NM_001144970:exon13:c.T836C:p.L279P;NEDD4L:NM_001144965:exon15:c.T896C:p.L299P;NEDD4L:NM_001144966:exon14:c.T896C:p.L299P;NEDD4L:NM_001243960:exon13:c.T1067C:p.L356P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.T836C:p.L279P;ENSG00000049759:ENST00000382850:exon14:c.T1199C:p.L400P;ENSG00000049759:ENST00000456986:exon15:c.T896C:p.L299P;ENSG00000049759:ENST00000456173:exon13:c.T836C:p.L279P;ENSG00000049759:ENST00000357895:exon15:c.T1235C:p.L412P;ENSG00000049759:ENST00000256832:exon14:c.T836C:p.L279P;ENSG00000049759:ENST00000431212:exon14:c.T896C:p.L299P;ENSG00000049759:ENST00000356462:exon13:c.T1067C:p.L356P;ENSG00000049759:ENST00000400345:exon15:c.T1259C:p.L420P;ENSG00000049759:ENST00000586263:exon14:c.T1175C:p.L392P;	0.166122392972441	0.288
18	56008911	T	G	18	58341679	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.T1175G:p.L392R;NEDD4L:NM_001144964:exon15:c.T896G:p.L299R;NEDD4L:NM_015277:exon14:c.T1199G:p.L400R;NEDD4L:NM_001144967:exon15:c.T1259G:p.L420R;NEDD4L:NM_001144971:exon15:c.T836G:p.L279R;NEDD4L:NM_001144968:exon15:c.T1235G:p.L412R;NEDD4L:NM_001144970:exon13:c.T836G:p.L279R;NEDD4L:NM_001144965:exon15:c.T896G:p.L299R;NEDD4L:NM_001144966:exon14:c.T896G:p.L299R;NEDD4L:NM_001243960:exon13:c.T1067G:p.L356R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.T836G:p.L279R;ENSG00000049759:ENST00000382850:exon14:c.T1199G:p.L400R;ENSG00000049759:ENST00000456986:exon15:c.T896G:p.L299R;ENSG00000049759:ENST00000456173:exon13:c.T836G:p.L279R;ENSG00000049759:ENST00000357895:exon15:c.T1235G:p.L412R;ENSG00000049759:ENST00000256832:exon14:c.T836G:p.L279R;ENSG00000049759:ENST00000431212:exon14:c.T896G:p.L299R;ENSG00000049759:ENST00000356462:exon13:c.T1067G:p.L356R;ENSG00000049759:ENST00000400345:exon15:c.T1259G:p.L420R;ENSG00000049759:ENST00000586263:exon14:c.T1175G:p.L392R;	0.00629474411261306	0.142
18	56009027	G	A	18	58341795	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.G1291A:p.E431K;NEDD4L:NM_001144964:exon15:c.G1012A:p.E338K;NEDD4L:NM_015277:exon14:c.G1315A:p.E439K;NEDD4L:NM_001144967:exon15:c.G1375A:p.E459K;NEDD4L:NM_001144971:exon15:c.G952A:p.E318K;NEDD4L:NM_001144968:exon15:c.G1351A:p.E451K;NEDD4L:NM_001144970:exon13:c.G952A:p.E318K;NEDD4L:NM_001144965:exon15:c.G1012A:p.E338K;NEDD4L:NM_001144966:exon14:c.G1012A:p.E338K;NEDD4L:NM_001243960:exon13:c.G1183A:p.E395K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.G952A:p.E318K;ENSG00000049759:ENST00000382850:exon14:c.G1315A:p.E439K;ENSG00000049759:ENST00000456986:exon15:c.G1012A:p.E338K;ENSG00000049759:ENST00000456173:exon13:c.G952A:p.E318K;ENSG00000049759:ENST00000357895:exon15:c.G1351A:p.E451K;ENSG00000049759:ENST00000256832:exon14:c.G952A:p.E318K;ENSG00000049759:ENST00000431212:exon14:c.G1012A:p.E338K;ENSG00000049759:ENST00000356462:exon13:c.G1183A:p.E395K;ENSG00000049759:ENST00000400345:exon15:c.G1375A:p.E459K;ENSG00000049759:ENST00000586263:exon14:c.G1291A:p.E431K;	0.927810361872187	0.682
18	56009027	G	C	18	58341795	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.G1291C:p.E431Q;NEDD4L:NM_001144964:exon15:c.G1012C:p.E338Q;NEDD4L:NM_015277:exon14:c.G1315C:p.E439Q;NEDD4L:NM_001144967:exon15:c.G1375C:p.E459Q;NEDD4L:NM_001144971:exon15:c.G952C:p.E318Q;NEDD4L:NM_001144968:exon15:c.G1351C:p.E451Q;NEDD4L:NM_001144970:exon13:c.G952C:p.E318Q;NEDD4L:NM_001144965:exon15:c.G1012C:p.E338Q;NEDD4L:NM_001144966:exon14:c.G1012C:p.E338Q;NEDD4L:NM_001243960:exon13:c.G1183C:p.E395Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.G952C:p.E318Q;ENSG00000049759:ENST00000382850:exon14:c.G1315C:p.E439Q;ENSG00000049759:ENST00000456986:exon15:c.G1012C:p.E338Q;ENSG00000049759:ENST00000456173:exon13:c.G952C:p.E318Q;ENSG00000049759:ENST00000357895:exon15:c.G1351C:p.E451Q;ENSG00000049759:ENST00000256832:exon14:c.G952C:p.E318Q;ENSG00000049759:ENST00000431212:exon14:c.G1012C:p.E338Q;ENSG00000049759:ENST00000356462:exon13:c.G1183C:p.E395Q;ENSG00000049759:ENST00000400345:exon15:c.G1375C:p.E459Q;ENSG00000049759:ENST00000586263:exon14:c.G1291C:p.E431Q;	0.713523542293291	0.562
18	56009027	G	T	18	58341795	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon14:c.G1291T:p.E431X;NEDD4L:NM_001144964:exon15:c.G1012T:p.E338X;NEDD4L:NM_015277:exon14:c.G1315T:p.E439X;NEDD4L:NM_001144967:exon15:c.G1375T:p.E459X;NEDD4L:NM_001144971:exon15:c.G952T:p.E318X;NEDD4L:NM_001144968:exon15:c.G1351T:p.E451X;NEDD4L:NM_001144970:exon13:c.G952T:p.E318X;NEDD4L:NM_001144965:exon15:c.G1012T:p.E338X;NEDD4L:NM_001144966:exon14:c.G1012T:p.E338X;NEDD4L:NM_001243960:exon13:c.G1183T:p.E395X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000435432:exon15:c.G952T:p.E318X;ENSG00000049759:ENST00000382850:exon14:c.G1315T:p.E439X;ENSG00000049759:ENST00000456986:exon15:c.G1012T:p.E338X;ENSG00000049759:ENST00000456173:exon13:c.G952T:p.E318X;ENSG00000049759:ENST00000357895:exon15:c.G1351T:p.E451X;ENSG00000049759:ENST00000256832:exon14:c.G952T:p.E318X;ENSG00000049759:ENST00000431212:exon14:c.G1012T:p.E338X;ENSG00000049759:ENST00000356462:exon13:c.G1183T:p.E395X;ENSG00000049759:ENST00000400345:exon15:c.G1375T:p.E459X;ENSG00000049759:ENST00000586263:exon14:c.G1291T:p.E431X;	0.995875751603894	0.89
18	56009028	A	C	18	58341796	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.A1292C:p.E431A;NEDD4L:NM_001144964:exon15:c.A1013C:p.E338A;NEDD4L:NM_015277:exon14:c.A1316C:p.E439A;NEDD4L:NM_001144967:exon15:c.A1376C:p.E459A;NEDD4L:NM_001144971:exon15:c.A953C:p.E318A;NEDD4L:NM_001144968:exon15:c.A1352C:p.E451A;NEDD4L:NM_001144970:exon13:c.A953C:p.E318A;NEDD4L:NM_001144965:exon15:c.A1013C:p.E338A;NEDD4L:NM_001144966:exon14:c.A1013C:p.E338A;NEDD4L:NM_001243960:exon13:c.A1184C:p.E395A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.A953C:p.E318A;ENSG00000049759:ENST00000382850:exon14:c.A1316C:p.E439A;ENSG00000049759:ENST00000456986:exon15:c.A1013C:p.E338A;ENSG00000049759:ENST00000456173:exon13:c.A953C:p.E318A;ENSG00000049759:ENST00000357895:exon15:c.A1352C:p.E451A;ENSG00000049759:ENST00000256832:exon14:c.A953C:p.E318A;ENSG00000049759:ENST00000431212:exon14:c.A1013C:p.E338A;ENSG00000049759:ENST00000356462:exon13:c.A1184C:p.E395A;ENSG00000049759:ENST00000400345:exon15:c.A1376C:p.E459A;ENSG00000049759:ENST00000586263:exon14:c.A1292C:p.E431A;	0.996016564211691	0.948
18	56009028	A	G	18	58341796	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.A1292G:p.E431G;NEDD4L:NM_001144964:exon15:c.A1013G:p.E338G;NEDD4L:NM_015277:exon14:c.A1316G:p.E439G;NEDD4L:NM_001144967:exon15:c.A1376G:p.E459G;NEDD4L:NM_001144971:exon15:c.A953G:p.E318G;NEDD4L:NM_001144968:exon15:c.A1352G:p.E451G;NEDD4L:NM_001144970:exon13:c.A953G:p.E318G;NEDD4L:NM_001144965:exon15:c.A1013G:p.E338G;NEDD4L:NM_001144966:exon14:c.A1013G:p.E338G;NEDD4L:NM_001243960:exon13:c.A1184G:p.E395G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.A953G:p.E318G;ENSG00000049759:ENST00000382850:exon14:c.A1316G:p.E439G;ENSG00000049759:ENST00000456986:exon15:c.A1013G:p.E338G;ENSG00000049759:ENST00000456173:exon13:c.A953G:p.E318G;ENSG00000049759:ENST00000357895:exon15:c.A1352G:p.E451G;ENSG00000049759:ENST00000256832:exon14:c.A953G:p.E318G;ENSG00000049759:ENST00000431212:exon14:c.A1013G:p.E338G;ENSG00000049759:ENST00000356462:exon13:c.A1184G:p.E395G;ENSG00000049759:ENST00000400345:exon15:c.A1376G:p.E459G;ENSG00000049759:ENST00000586263:exon14:c.A1292G:p.E431G;	0.999936083846172	0.996
18	56009028	A	T	18	58341796	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.A1292T:p.E431V;NEDD4L:NM_001144964:exon15:c.A1013T:p.E338V;NEDD4L:NM_015277:exon14:c.A1316T:p.E439V;NEDD4L:NM_001144967:exon15:c.A1376T:p.E459V;NEDD4L:NM_001144971:exon15:c.A953T:p.E318V;NEDD4L:NM_001144968:exon15:c.A1352T:p.E451V;NEDD4L:NM_001144970:exon13:c.A953T:p.E318V;NEDD4L:NM_001144965:exon15:c.A1013T:p.E338V;NEDD4L:NM_001144966:exon14:c.A1013T:p.E338V;NEDD4L:NM_001243960:exon13:c.A1184T:p.E395V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.A953T:p.E318V;ENSG00000049759:ENST00000382850:exon14:c.A1316T:p.E439V;ENSG00000049759:ENST00000456986:exon15:c.A1013T:p.E338V;ENSG00000049759:ENST00000456173:exon13:c.A953T:p.E318V;ENSG00000049759:ENST00000357895:exon15:c.A1352T:p.E451V;ENSG00000049759:ENST00000256832:exon14:c.A953T:p.E318V;ENSG00000049759:ENST00000431212:exon14:c.A1013T:p.E338V;ENSG00000049759:ENST00000356462:exon13:c.A1184T:p.E395V;ENSG00000049759:ENST00000400345:exon15:c.A1376T:p.E459V;ENSG00000049759:ENST00000586263:exon14:c.A1292T:p.E431V;	0.999894085975331	0.996
18	56009029	G	A	18	58341797	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon14:c.G1293A:p.E431E;NEDD4L:NM_001144964:exon15:c.G1014A:p.E338E;NEDD4L:NM_015277:exon14:c.G1317A:p.E439E;NEDD4L:NM_001144967:exon15:c.G1377A:p.E459E;NEDD4L:NM_001144971:exon15:c.G954A:p.E318E;NEDD4L:NM_001144968:exon15:c.G1353A:p.E451E;NEDD4L:NM_001144970:exon13:c.G954A:p.E318E;NEDD4L:NM_001144965:exon15:c.G1014A:p.E338E;NEDD4L:NM_001144966:exon14:c.G1014A:p.E338E;NEDD4L:NM_001243960:exon13:c.G1185A:p.E395E;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.G954A:p.E318E;ENSG00000049759:ENST00000382850:exon14:c.G1317A:p.E439E;ENSG00000049759:ENST00000456986:exon15:c.G1014A:p.E338E;ENSG00000049759:ENST00000456173:exon13:c.G954A:p.E318E;ENSG00000049759:ENST00000357895:exon15:c.G1353A:p.E451E;ENSG00000049759:ENST00000256832:exon14:c.G954A:p.E318E;ENSG00000049759:ENST00000431212:exon14:c.G1014A:p.E338E;ENSG00000049759:ENST00000356462:exon13:c.G1185A:p.E395E;ENSG00000049759:ENST00000400345:exon15:c.G1377A:p.E459E;ENSG00000049759:ENST00000586263:exon14:c.G1293A:p.E431E;	0.999448510198228	0.988
18	56009029	G	C	18	58341797	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.G1293C:p.E431D;NEDD4L:NM_001144964:exon15:c.G1014C:p.E338D;NEDD4L:NM_015277:exon14:c.G1317C:p.E439D;NEDD4L:NM_001144967:exon15:c.G1377C:p.E459D;NEDD4L:NM_001144971:exon15:c.G954C:p.E318D;NEDD4L:NM_001144968:exon15:c.G1353C:p.E451D;NEDD4L:NM_001144970:exon13:c.G954C:p.E318D;NEDD4L:NM_001144965:exon15:c.G1014C:p.E338D;NEDD4L:NM_001144966:exon14:c.G1014C:p.E338D;NEDD4L:NM_001243960:exon13:c.G1185C:p.E395D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.G954C:p.E318D;ENSG00000049759:ENST00000382850:exon14:c.G1317C:p.E439D;ENSG00000049759:ENST00000456986:exon15:c.G1014C:p.E338D;ENSG00000049759:ENST00000456173:exon13:c.G954C:p.E318D;ENSG00000049759:ENST00000357895:exon15:c.G1353C:p.E451D;ENSG00000049759:ENST00000256832:exon14:c.G954C:p.E318D;ENSG00000049759:ENST00000431212:exon14:c.G1014C:p.E338D;ENSG00000049759:ENST00000356462:exon13:c.G1185C:p.E395D;ENSG00000049759:ENST00000400345:exon15:c.G1377C:p.E459D;ENSG00000049759:ENST00000586263:exon14:c.G1293C:p.E431D;	0.999976553651309	1.0
18	56009029	G	T	18	58341797	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon14:c.G1293T:p.E431D;NEDD4L:NM_001144964:exon15:c.G1014T:p.E338D;NEDD4L:NM_015277:exon14:c.G1317T:p.E439D;NEDD4L:NM_001144967:exon15:c.G1377T:p.E459D;NEDD4L:NM_001144971:exon15:c.G954T:p.E318D;NEDD4L:NM_001144968:exon15:c.G1353T:p.E451D;NEDD4L:NM_001144970:exon13:c.G954T:p.E318D;NEDD4L:NM_001144965:exon15:c.G1014T:p.E338D;NEDD4L:NM_001144966:exon14:c.G1014T:p.E338D;NEDD4L:NM_001243960:exon13:c.G1185T:p.E395D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon15:c.G954T:p.E318D;ENSG00000049759:ENST00000382850:exon14:c.G1317T:p.E439D;ENSG00000049759:ENST00000456986:exon15:c.G1014T:p.E338D;ENSG00000049759:ENST00000456173:exon13:c.G954T:p.E318D;ENSG00000049759:ENST00000357895:exon15:c.G1353T:p.E451D;ENSG00000049759:ENST00000256832:exon14:c.G954T:p.E318D;ENSG00000049759:ENST00000431212:exon14:c.G1014T:p.E338D;ENSG00000049759:ENST00000356462:exon13:c.G1185T:p.E395D;ENSG00000049759:ENST00000400345:exon15:c.G1377T:p.E459D;ENSG00000049759:ENST00000586263:exon14:c.G1293T:p.E431D;	0.999945617728036	0.95
18	56009030	G	A	18	58341798	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1377+1G>A;NM_001243960:exon13:c.1185+1G>A;NM_015277:exon14:c.1317+1G>A;NM_001144964:exon15:c.1014+1G>A;NM_001144968:exon15:c.1353+1G>A;NM_001144965:exon15:c.1014+1G>A;NM_001144971:exon15:c.954+1G>A;NM_001144969:exon14:c.1293+1G>A;NM_001144970:exon13:c.954+1G>A;NM_001144966:exon14:c.1014+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1185+1G>A;ENST00000400345:exon15:c.1377+1G>A;ENST00000256832:exon14:c.954+1G>A;ENST00000382850:exon14:c.1317+1G>A;ENST00000456986:exon15:c.1014+1G>A;ENST00000357895:exon15:c.1353+1G>A;ENST00000435432:exon15:c.954+1G>A;ENST00000586263:exon14:c.1293+1G>A;ENST00000456173:exon13:c.954+1G>A;ENST00000431212:exon14:c.1014+1G>A)	.	.	0.999986675681007	0.932
18	56009030	G	C	18	58341798	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1377+1G>C;NM_001243960:exon13:c.1185+1G>C;NM_015277:exon14:c.1317+1G>C;NM_001144964:exon15:c.1014+1G>C;NM_001144968:exon15:c.1353+1G>C;NM_001144965:exon15:c.1014+1G>C;NM_001144971:exon15:c.954+1G>C;NM_001144969:exon14:c.1293+1G>C;NM_001144970:exon13:c.954+1G>C;NM_001144966:exon14:c.1014+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1185+1G>C;ENST00000400345:exon15:c.1377+1G>C;ENST00000256832:exon14:c.954+1G>C;ENST00000382850:exon14:c.1317+1G>C;ENST00000456986:exon15:c.1014+1G>C;ENST00000357895:exon15:c.1353+1G>C;ENST00000435432:exon15:c.954+1G>C;ENST00000586263:exon14:c.1293+1G>C;ENST00000456173:exon13:c.954+1G>C;ENST00000431212:exon14:c.1014+1G>C)	.	.	0.999986675681007	0.932
18	56009030	G	T	18	58341798	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1377+1G>T;NM_001243960:exon13:c.1185+1G>T;NM_015277:exon14:c.1317+1G>T;NM_001144964:exon15:c.1014+1G>T;NM_001144968:exon15:c.1353+1G>T;NM_001144965:exon15:c.1014+1G>T;NM_001144971:exon15:c.954+1G>T;NM_001144969:exon14:c.1293+1G>T;NM_001144970:exon13:c.954+1G>T;NM_001144966:exon14:c.1014+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1185+1G>T;ENST00000400345:exon15:c.1377+1G>T;ENST00000256832:exon14:c.954+1G>T;ENST00000382850:exon14:c.1317+1G>T;ENST00000456986:exon15:c.1014+1G>T;ENST00000357895:exon15:c.1353+1G>T;ENST00000435432:exon15:c.954+1G>T;ENST00000586263:exon14:c.1293+1G>T;ENST00000456173:exon13:c.954+1G>T;ENST00000431212:exon14:c.1014+1G>T)	.	.	0.999986675681007	0.932
18	56009031	T	A	18	58341799	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1377+2T>A;NM_001243960:exon13:c.1185+2T>A;NM_015277:exon14:c.1317+2T>A;NM_001144964:exon15:c.1014+2T>A;NM_001144968:exon15:c.1353+2T>A;NM_001144965:exon15:c.1014+2T>A;NM_001144971:exon15:c.954+2T>A;NM_001144969:exon14:c.1293+2T>A;NM_001144970:exon13:c.954+2T>A;NM_001144966:exon14:c.1014+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1185+2T>A;ENST00000400345:exon15:c.1377+2T>A;ENST00000256832:exon14:c.954+2T>A;ENST00000382850:exon14:c.1317+2T>A;ENST00000456986:exon15:c.1014+2T>A;ENST00000357895:exon15:c.1353+2T>A;ENST00000435432:exon15:c.954+2T>A;ENST00000586263:exon14:c.1293+2T>A;ENST00000456173:exon13:c.954+2T>A;ENST00000431212:exon14:c.1014+2T>A)	.	.	0.999988247793601	0.928
18	56009031	T	C	18	58341799	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1377+2T>C;NM_001243960:exon13:c.1185+2T>C;NM_015277:exon14:c.1317+2T>C;NM_001144964:exon15:c.1014+2T>C;NM_001144968:exon15:c.1353+2T>C;NM_001144965:exon15:c.1014+2T>C;NM_001144971:exon15:c.954+2T>C;NM_001144969:exon14:c.1293+2T>C;NM_001144970:exon13:c.954+2T>C;NM_001144966:exon14:c.1014+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1185+2T>C;ENST00000400345:exon15:c.1377+2T>C;ENST00000256832:exon14:c.954+2T>C;ENST00000382850:exon14:c.1317+2T>C;ENST00000456986:exon15:c.1014+2T>C;ENST00000357895:exon15:c.1353+2T>C;ENST00000435432:exon15:c.954+2T>C;ENST00000586263:exon14:c.1293+2T>C;ENST00000456173:exon13:c.954+2T>C;ENST00000431212:exon14:c.1014+2T>C)	.	.	0.99991520749976	0.866
18	56009031	T	G	18	58341799	y	y	splicing	NEDD4L(NM_001144967:exon15:c.1377+2T>G;NM_001243960:exon13:c.1185+2T>G;NM_015277:exon14:c.1317+2T>G;NM_001144964:exon15:c.1014+2T>G;NM_001144968:exon15:c.1353+2T>G;NM_001144965:exon15:c.1014+2T>G;NM_001144971:exon15:c.954+2T>G;NM_001144969:exon14:c.1293+2T>G;NM_001144970:exon13:c.954+2T>G;NM_001144966:exon14:c.1014+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon13:c.1185+2T>G;ENST00000400345:exon15:c.1377+2T>G;ENST00000256832:exon14:c.954+2T>G;ENST00000382850:exon14:c.1317+2T>G;ENST00000456986:exon15:c.1014+2T>G;ENST00000357895:exon15:c.1353+2T>G;ENST00000435432:exon15:c.954+2T>G;ENST00000586263:exon14:c.1293+2T>G;ENST00000456173:exon13:c.954+2T>G;ENST00000431212:exon14:c.1014+2T>G)	.	.	0.999988247793601	0.928
18	56009032	G	A	18	58341800	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.324359948250811	0.414
18	56009032	G	C	18	58341800	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999568558954235	0.948
18	56009032	G	T	18	58341800	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999610900676237	0.928
18	56009033	A	C	18	58341801	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996991893267495	0.94
18	56009033	A	G	18	58341801	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99705514097545	0.948
18	56009033	A	T	18	58341801	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99654305625416	0.866
18	56009034	G	A	18	58341802	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997198484287642	0.966
18	56009034	G	C	18	58341802	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997352074137314	0.84
18	56009034	G	T	18	58341802	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997910572348163	0.92
18	56009035	A	C	18	58341803	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0111596400943832	0.072
18	56009035	A	G	18	58341803	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.09200560851142E-4	0.004
18	56009035	A	T	18	58341803	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.5866607689076E-4	0.032
18	56009036	C	A	18	58341804	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.11429914262379E-5	0.0
18	56009036	C	G	18	58341804	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.00015911824063E-4	0.0
18	56009036	C	T	18	58341804	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.25616329579027E-4	0.028
18	56009037	G	A	18	58341805	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00587697872525267	0.076
18	56009037	G	C	18	58341805	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0050238627113818	0.034
18	56009037	G	T	18	58341805	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0231200237616432	0.134
18	56010126	G	A	18	58342894	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.15896630113242E-5	0.004
18	56010126	G	C	18	58342894	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.65033855432448E-6	0.0
18	56010126	G	T	18	58342894	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.56227402875007E-5	0.0
18	56010127	T	A	18	58342895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.485898341685112	0.52
18	56010127	T	C	18	58342895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0769733138691321	0.362
18	56010127	T	G	18	58342895	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.42350766899147	0.49
18	56010128	T	A	18	58342896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.349726908240346	0.558
18	56010128	T	C	18	58342896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00109834659044643	0.1
18	56010128	T	G	18	58342896	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.275726426200637	0.564
18	56010129	A	C	18	58342897	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.30616296805072E-5	0.0
18	56010129	A	G	18	58342897	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.42699566035359E-5	0.0
18	56010129	A	T	18	58342897	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.67878679717808E-5	0.0
18	56010130	T	A	18	58342898	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.195340534210208	0.438
18	56010130	T	C	18	58342898	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.76181688550449E-4	0.072
18	56010130	T	G	18	58342898	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999811052724999	0.952
18	56010131	T	A	18	58342899	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.350472152433154	0.476
18	56010131	T	C	18	58342899	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00155424409382516	0.07
18	56010131	T	G	18	58342899	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.216064381242765	0.432
18	56010132	C	A	18	58342900	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.310078187699022	0.446
18	56010132	C	G	18	58342900	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.310078187699022	0.448
18	56010132	C	T	18	58342900	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.9403831974517E-4	0.086
18	56010133	T	A	18	58342901	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0802921124817963	0.284
18	56010133	T	C	18	58342901	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.41311473890525E-5	0.008
18	56010133	T	G	18	58342901	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.212828137037817	0.36
18	56010134	T	A	18	58342902	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.55938867448836E-4	0.004
18	56010134	T	C	18	58342902	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.23012898160528E-5	0.004
18	56010134	T	G	18	58342902	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.22519353157396E-4	0.008
18	56010135	T	A	18	58342903	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00701012747966922	0.232
18	56010135	T	C	18	58342903	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.00675685328533E-5	0.002
18	56010135	T	G	18	58342903	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.978446249008051	0.674
18	56010136	A	C	18	58342904	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1378-2A>C;NM_001243960:exon14:c.1186-2A>C;NM_015277:exon15:c.1318-2A>C;NM_001144964:exon16:c.1015-2A>C;NM_001144968:exon16:c.1354-2A>C;NM_001144965:exon16:c.1015-2A>C;NM_001144971:exon16:c.955-2A>C;NM_001144969:exon15:c.1294-2A>C;NM_001144970:exon14:c.955-2A>C;NM_001144966:exon15:c.1015-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1186-2A>C;ENST00000400345:exon16:c.1378-2A>C;ENST00000256832:exon15:c.955-2A>C;ENST00000382850:exon15:c.1318-2A>C;ENST00000256830:exon13:c.1066-2A>C;ENST00000456986:exon16:c.1015-2A>C;ENST00000357895:exon16:c.1354-2A>C;ENST00000435432:exon16:c.955-2A>C;ENST00000586263:exon15:c.1294-2A>C;ENST00000456173:exon14:c.955-2A>C;ENST00000431212:exon15:c.1015-2A>C)	.	.	0.999988247793601	0.932
18	56010136	A	G	18	58342904	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1378-2A>G;NM_001243960:exon14:c.1186-2A>G;NM_015277:exon15:c.1318-2A>G;NM_001144964:exon16:c.1015-2A>G;NM_001144968:exon16:c.1354-2A>G;NM_001144965:exon16:c.1015-2A>G;NM_001144971:exon16:c.955-2A>G;NM_001144969:exon15:c.1294-2A>G;NM_001144970:exon14:c.955-2A>G;NM_001144966:exon15:c.1015-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1186-2A>G;ENST00000400345:exon16:c.1378-2A>G;ENST00000256832:exon15:c.955-2A>G;ENST00000382850:exon15:c.1318-2A>G;ENST00000256830:exon13:c.1066-2A>G;ENST00000456986:exon16:c.1015-2A>G;ENST00000357895:exon16:c.1354-2A>G;ENST00000435432:exon16:c.955-2A>G;ENST00000586263:exon15:c.1294-2A>G;ENST00000456173:exon14:c.955-2A>G;ENST00000431212:exon15:c.1015-2A>G)	.	.	0.999988247793601	0.932
18	56010136	A	T	18	58342904	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1378-2A>T;NM_001243960:exon14:c.1186-2A>T;NM_015277:exon15:c.1318-2A>T;NM_001144964:exon16:c.1015-2A>T;NM_001144968:exon16:c.1354-2A>T;NM_001144965:exon16:c.1015-2A>T;NM_001144971:exon16:c.955-2A>T;NM_001144969:exon15:c.1294-2A>T;NM_001144970:exon14:c.955-2A>T;NM_001144966:exon15:c.1015-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1186-2A>T;ENST00000400345:exon16:c.1378-2A>T;ENST00000256832:exon15:c.955-2A>T;ENST00000382850:exon15:c.1318-2A>T;ENST00000256830:exon13:c.1066-2A>T;ENST00000456986:exon16:c.1015-2A>T;ENST00000357895:exon16:c.1354-2A>T;ENST00000435432:exon16:c.955-2A>T;ENST00000586263:exon15:c.1294-2A>T;ENST00000456173:exon14:c.955-2A>T;ENST00000431212:exon15:c.1015-2A>T)	.	.	0.999988247793601	0.932
18	56010137	G	A	18	58342905	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1378-1G>A;NM_001243960:exon14:c.1186-1G>A;NM_015277:exon15:c.1318-1G>A;NM_001144964:exon16:c.1015-1G>A;NM_001144968:exon16:c.1354-1G>A;NM_001144965:exon16:c.1015-1G>A;NM_001144971:exon16:c.955-1G>A;NM_001144969:exon15:c.1294-1G>A;NM_001144970:exon14:c.955-1G>A;NM_001144966:exon15:c.1015-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1186-1G>A;ENST00000400345:exon16:c.1378-1G>A;ENST00000256832:exon15:c.955-1G>A;ENST00000382850:exon15:c.1318-1G>A;ENST00000256830:exon13:c.1066-1G>A;ENST00000456986:exon16:c.1015-1G>A;ENST00000357895:exon16:c.1354-1G>A;ENST00000435432:exon16:c.955-1G>A;ENST00000586263:exon15:c.1294-1G>A;ENST00000456173:exon14:c.955-1G>A;ENST00000431212:exon15:c.1015-1G>A)	.	.	0.999990361384395	0.938
18	56010137	G	C	18	58342905	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1378-1G>C;NM_001243960:exon14:c.1186-1G>C;NM_015277:exon15:c.1318-1G>C;NM_001144964:exon16:c.1015-1G>C;NM_001144968:exon16:c.1354-1G>C;NM_001144965:exon16:c.1015-1G>C;NM_001144971:exon16:c.955-1G>C;NM_001144969:exon15:c.1294-1G>C;NM_001144970:exon14:c.955-1G>C;NM_001144966:exon15:c.1015-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1186-1G>C;ENST00000400345:exon16:c.1378-1G>C;ENST00000256832:exon15:c.955-1G>C;ENST00000382850:exon15:c.1318-1G>C;ENST00000256830:exon13:c.1066-1G>C;ENST00000456986:exon16:c.1015-1G>C;ENST00000357895:exon16:c.1354-1G>C;ENST00000435432:exon16:c.955-1G>C;ENST00000586263:exon15:c.1294-1G>C;ENST00000456173:exon14:c.955-1G>C;ENST00000431212:exon15:c.1015-1G>C)	.	.	0.999990361384395	0.938
18	56010137	G	T	18	58342905	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1378-1G>T;NM_001243960:exon14:c.1186-1G>T;NM_015277:exon15:c.1318-1G>T;NM_001144964:exon16:c.1015-1G>T;NM_001144968:exon16:c.1354-1G>T;NM_001144965:exon16:c.1015-1G>T;NM_001144971:exon16:c.955-1G>T;NM_001144969:exon15:c.1294-1G>T;NM_001144970:exon14:c.955-1G>T;NM_001144966:exon15:c.1015-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1186-1G>T;ENST00000400345:exon16:c.1378-1G>T;ENST00000256832:exon15:c.955-1G>T;ENST00000382850:exon15:c.1318-1G>T;ENST00000256830:exon13:c.1066-1G>T;ENST00000456986:exon16:c.1015-1G>T;ENST00000357895:exon16:c.1354-1G>T;ENST00000435432:exon16:c.955-1G>T;ENST00000586263:exon15:c.1294-1G>T;ENST00000456173:exon14:c.955-1G>T;ENST00000431212:exon15:c.1015-1G>T)	.	.	0.999990361384395	0.938
18	56010138	G	A	18	58342906	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1294A:p.G432S;NEDD4L:NM_001144964:exon16:c.G1015A:p.G339S;NEDD4L:NM_015277:exon15:c.G1318A:p.G440S;NEDD4L:NM_001144967:exon16:c.G1378A:p.G460S;NEDD4L:NM_001144971:exon16:c.G955A:p.G319S;NEDD4L:NM_001144968:exon16:c.G1354A:p.G452S;NEDD4L:NM_001144970:exon14:c.G955A:p.G319S;NEDD4L:NM_001144965:exon16:c.G1015A:p.G339S;NEDD4L:NM_001144966:exon15:c.G1015A:p.G339S;NEDD4L:NM_001243960:exon14:c.G1186A:p.G396S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G955A:p.G319S;ENSG00000049759:ENST00000382850:exon15:c.G1318A:p.G440S;ENSG00000049759:ENST00000456986:exon16:c.G1015A:p.G339S;ENSG00000049759:ENST00000256830:exon13:c.G1066A:p.G356S;ENSG00000049759:ENST00000456173:exon14:c.G955A:p.G319S;ENSG00000049759:ENST00000357895:exon16:c.G1354A:p.G452S;ENSG00000049759:ENST00000256832:exon15:c.G955A:p.G319S;ENSG00000049759:ENST00000431212:exon15:c.G1015A:p.G339S;ENSG00000049759:ENST00000356462:exon14:c.G1186A:p.G396S;ENSG00000049759:ENST00000400345:exon16:c.G1378A:p.G460S;ENSG00000049759:ENST00000586263:exon15:c.G1294A:p.G432S;	0.999589670241091	0.924
18	56010138	G	C	18	58342906	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1294C:p.G432R;NEDD4L:NM_001144964:exon16:c.G1015C:p.G339R;NEDD4L:NM_015277:exon15:c.G1318C:p.G440R;NEDD4L:NM_001144967:exon16:c.G1378C:p.G460R;NEDD4L:NM_001144971:exon16:c.G955C:p.G319R;NEDD4L:NM_001144968:exon16:c.G1354C:p.G452R;NEDD4L:NM_001144970:exon14:c.G955C:p.G319R;NEDD4L:NM_001144965:exon16:c.G1015C:p.G339R;NEDD4L:NM_001144966:exon15:c.G1015C:p.G339R;NEDD4L:NM_001243960:exon14:c.G1186C:p.G396R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G955C:p.G319R;ENSG00000049759:ENST00000382850:exon15:c.G1318C:p.G440R;ENSG00000049759:ENST00000456986:exon16:c.G1015C:p.G339R;ENSG00000049759:ENST00000256830:exon13:c.G1066C:p.G356R;ENSG00000049759:ENST00000456173:exon14:c.G955C:p.G319R;ENSG00000049759:ENST00000357895:exon16:c.G1354C:p.G452R;ENSG00000049759:ENST00000256832:exon15:c.G955C:p.G319R;ENSG00000049759:ENST00000431212:exon15:c.G1015C:p.G339R;ENSG00000049759:ENST00000356462:exon14:c.G1186C:p.G396R;ENSG00000049759:ENST00000400345:exon16:c.G1378C:p.G460R;ENSG00000049759:ENST00000586263:exon15:c.G1294C:p.G432R;	0.999516709209083	0.976
18	56010138	G	T	18	58342906	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1294T:p.G432C;NEDD4L:NM_001144964:exon16:c.G1015T:p.G339C;NEDD4L:NM_015277:exon15:c.G1318T:p.G440C;NEDD4L:NM_001144967:exon16:c.G1378T:p.G460C;NEDD4L:NM_001144971:exon16:c.G955T:p.G319C;NEDD4L:NM_001144968:exon16:c.G1354T:p.G452C;NEDD4L:NM_001144970:exon14:c.G955T:p.G319C;NEDD4L:NM_001144965:exon16:c.G1015T:p.G339C;NEDD4L:NM_001144966:exon15:c.G1015T:p.G339C;NEDD4L:NM_001243960:exon14:c.G1186T:p.G396C;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G955T:p.G319C;ENSG00000049759:ENST00000382850:exon15:c.G1318T:p.G440C;ENSG00000049759:ENST00000456986:exon16:c.G1015T:p.G339C;ENSG00000049759:ENST00000256830:exon13:c.G1066T:p.G356C;ENSG00000049759:ENST00000456173:exon14:c.G955T:p.G319C;ENSG00000049759:ENST00000357895:exon16:c.G1354T:p.G452C;ENSG00000049759:ENST00000256832:exon15:c.G955T:p.G319C;ENSG00000049759:ENST00000431212:exon15:c.G1015T:p.G339C;ENSG00000049759:ENST00000356462:exon14:c.G1186T:p.G396C;ENSG00000049759:ENST00000400345:exon16:c.G1378T:p.G460C;ENSG00000049759:ENST00000586263:exon15:c.G1294T:p.G432C;	0.999890950460842	0.972
18	56010139	G	A	18	58342907	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1295A:p.G432D;NEDD4L:NM_001144964:exon16:c.G1016A:p.G339D;NEDD4L:NM_015277:exon15:c.G1319A:p.G440D;NEDD4L:NM_001144967:exon16:c.G1379A:p.G460D;NEDD4L:NM_001144971:exon16:c.G956A:p.G319D;NEDD4L:NM_001144968:exon16:c.G1355A:p.G452D;NEDD4L:NM_001144970:exon14:c.G956A:p.G319D;NEDD4L:NM_001144965:exon16:c.G1016A:p.G339D;NEDD4L:NM_001144966:exon15:c.G1016A:p.G339D;NEDD4L:NM_001243960:exon14:c.G1187A:p.G396D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G956A:p.G319D;ENSG00000049759:ENST00000382850:exon15:c.G1319A:p.G440D;ENSG00000049759:ENST00000456986:exon16:c.G1016A:p.G339D;ENSG00000049759:ENST00000256830:exon13:c.G1067A:p.G356D;ENSG00000049759:ENST00000456173:exon14:c.G956A:p.G319D;ENSG00000049759:ENST00000357895:exon16:c.G1355A:p.G452D;ENSG00000049759:ENST00000256832:exon15:c.G956A:p.G319D;ENSG00000049759:ENST00000431212:exon15:c.G1016A:p.G339D;ENSG00000049759:ENST00000356462:exon14:c.G1187A:p.G396D;ENSG00000049759:ENST00000400345:exon16:c.G1379A:p.G460D;ENSG00000049759:ENST00000586263:exon15:c.G1295A:p.G432D;	0.990660365732329	0.83
18	56010139	G	C	18	58342907	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1295C:p.G432A;NEDD4L:NM_001144964:exon16:c.G1016C:p.G339A;NEDD4L:NM_015277:exon15:c.G1319C:p.G440A;NEDD4L:NM_001144967:exon16:c.G1379C:p.G460A;NEDD4L:NM_001144971:exon16:c.G956C:p.G319A;NEDD4L:NM_001144968:exon16:c.G1355C:p.G452A;NEDD4L:NM_001144970:exon14:c.G956C:p.G319A;NEDD4L:NM_001144965:exon16:c.G1016C:p.G339A;NEDD4L:NM_001144966:exon15:c.G1016C:p.G339A;NEDD4L:NM_001243960:exon14:c.G1187C:p.G396A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G956C:p.G319A;ENSG00000049759:ENST00000382850:exon15:c.G1319C:p.G440A;ENSG00000049759:ENST00000456986:exon16:c.G1016C:p.G339A;ENSG00000049759:ENST00000256830:exon13:c.G1067C:p.G356A;ENSG00000049759:ENST00000456173:exon14:c.G956C:p.G319A;ENSG00000049759:ENST00000357895:exon16:c.G1355C:p.G452A;ENSG00000049759:ENST00000256832:exon15:c.G956C:p.G319A;ENSG00000049759:ENST00000431212:exon15:c.G1016C:p.G339A;ENSG00000049759:ENST00000356462:exon14:c.G1187C:p.G396A;ENSG00000049759:ENST00000400345:exon16:c.G1379C:p.G460A;ENSG00000049759:ENST00000586263:exon15:c.G1295C:p.G432A;	0.984471947687844	0.794
18	56010139	G	T	18	58342907	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1295T:p.G432V;NEDD4L:NM_001144964:exon16:c.G1016T:p.G339V;NEDD4L:NM_015277:exon15:c.G1319T:p.G440V;NEDD4L:NM_001144967:exon16:c.G1379T:p.G460V;NEDD4L:NM_001144971:exon16:c.G956T:p.G319V;NEDD4L:NM_001144968:exon16:c.G1355T:p.G452V;NEDD4L:NM_001144970:exon14:c.G956T:p.G319V;NEDD4L:NM_001144965:exon16:c.G1016T:p.G339V;NEDD4L:NM_001144966:exon15:c.G1016T:p.G339V;NEDD4L:NM_001243960:exon14:c.G1187T:p.G396V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G956T:p.G319V;ENSG00000049759:ENST00000382850:exon15:c.G1319T:p.G440V;ENSG00000049759:ENST00000456986:exon16:c.G1016T:p.G339V;ENSG00000049759:ENST00000256830:exon13:c.G1067T:p.G356V;ENSG00000049759:ENST00000456173:exon14:c.G956T:p.G319V;ENSG00000049759:ENST00000357895:exon16:c.G1355T:p.G452V;ENSG00000049759:ENST00000256832:exon15:c.G956T:p.G319V;ENSG00000049759:ENST00000431212:exon15:c.G1016T:p.G339V;ENSG00000049759:ENST00000356462:exon14:c.G1187T:p.G396V;ENSG00000049759:ENST00000400345:exon16:c.G1379T:p.G460V;ENSG00000049759:ENST00000586263:exon15:c.G1295T:p.G432V;	0.974024453596551	0.824
18	56010333	T	A	18	58343101	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.T1489A:p.W497R;NEDD4L:NM_001144964:exon16:c.T1210A:p.W404R;NEDD4L:NM_015277:exon15:c.T1513A:p.W505R;NEDD4L:NM_001144967:exon16:c.T1573A:p.W525R;NEDD4L:NM_001144971:exon16:c.T1150A:p.W384R;NEDD4L:NM_001144968:exon16:c.T1549A:p.W517R;NEDD4L:NM_001144970:exon14:c.T1150A:p.W384R;NEDD4L:NM_001144965:exon16:c.T1210A:p.W404R;NEDD4L:NM_001144966:exon15:c.T1210A:p.W404R;NEDD4L:NM_001243960:exon14:c.T1381A:p.W461R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.T1150A:p.W384R;ENSG00000049759:ENST00000382850:exon15:c.T1513A:p.W505R;ENSG00000049759:ENST00000456986:exon16:c.T1210A:p.W404R;ENSG00000049759:ENST00000256830:exon13:c.T1261A:p.W421R;ENSG00000049759:ENST00000456173:exon14:c.T1150A:p.W384R;ENSG00000049759:ENST00000357895:exon16:c.T1549A:p.W517R;ENSG00000049759:ENST00000256832:exon15:c.T1150A:p.W384R;ENSG00000049759:ENST00000431212:exon15:c.T1210A:p.W404R;ENSG00000049759:ENST00000356462:exon14:c.T1381A:p.W461R;ENSG00000049759:ENST00000400345:exon16:c.T1573A:p.W525R;ENSG00000049759:ENST00000586263:exon15:c.T1489A:p.W497R;	0.746024077595885	0.734
18	56010333	T	C	18	58343101	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.T1489C:p.W497R;NEDD4L:NM_001144964:exon16:c.T1210C:p.W404R;NEDD4L:NM_015277:exon15:c.T1513C:p.W505R;NEDD4L:NM_001144967:exon16:c.T1573C:p.W525R;NEDD4L:NM_001144971:exon16:c.T1150C:p.W384R;NEDD4L:NM_001144968:exon16:c.T1549C:p.W517R;NEDD4L:NM_001144970:exon14:c.T1150C:p.W384R;NEDD4L:NM_001144965:exon16:c.T1210C:p.W404R;NEDD4L:NM_001144966:exon15:c.T1210C:p.W404R;NEDD4L:NM_001243960:exon14:c.T1381C:p.W461R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.T1150C:p.W384R;ENSG00000049759:ENST00000382850:exon15:c.T1513C:p.W505R;ENSG00000049759:ENST00000456986:exon16:c.T1210C:p.W404R;ENSG00000049759:ENST00000256830:exon13:c.T1261C:p.W421R;ENSG00000049759:ENST00000456173:exon14:c.T1150C:p.W384R;ENSG00000049759:ENST00000357895:exon16:c.T1549C:p.W517R;ENSG00000049759:ENST00000256832:exon15:c.T1150C:p.W384R;ENSG00000049759:ENST00000431212:exon15:c.T1210C:p.W404R;ENSG00000049759:ENST00000356462:exon14:c.T1381C:p.W461R;ENSG00000049759:ENST00000400345:exon16:c.T1573C:p.W525R;ENSG00000049759:ENST00000586263:exon15:c.T1489C:p.W497R;	0.676482151470728	0.712
18	56010333	T	G	18	58343101	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.T1489G:p.W497G;NEDD4L:NM_001144964:exon16:c.T1210G:p.W404G;NEDD4L:NM_015277:exon15:c.T1513G:p.W505G;NEDD4L:NM_001144967:exon16:c.T1573G:p.W525G;NEDD4L:NM_001144971:exon16:c.T1150G:p.W384G;NEDD4L:NM_001144968:exon16:c.T1549G:p.W517G;NEDD4L:NM_001144970:exon14:c.T1150G:p.W384G;NEDD4L:NM_001144965:exon16:c.T1210G:p.W404G;NEDD4L:NM_001144966:exon15:c.T1210G:p.W404G;NEDD4L:NM_001243960:exon14:c.T1381G:p.W461G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.T1150G:p.W384G;ENSG00000049759:ENST00000382850:exon15:c.T1513G:p.W505G;ENSG00000049759:ENST00000456986:exon16:c.T1210G:p.W404G;ENSG00000049759:ENST00000256830:exon13:c.T1261G:p.W421G;ENSG00000049759:ENST00000456173:exon14:c.T1150G:p.W384G;ENSG00000049759:ENST00000357895:exon16:c.T1549G:p.W517G;ENSG00000049759:ENST00000256832:exon15:c.T1150G:p.W384G;ENSG00000049759:ENST00000431212:exon15:c.T1210G:p.W404G;ENSG00000049759:ENST00000356462:exon14:c.T1381G:p.W461G;ENSG00000049759:ENST00000400345:exon16:c.T1573G:p.W525G;ENSG00000049759:ENST00000586263:exon15:c.T1489G:p.W497G;	0.797563338262669	0.774
18	56010334	G	A	18	58343102	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon15:c.G1490A:p.W497X;NEDD4L:NM_001144964:exon16:c.G1211A:p.W404X;NEDD4L:NM_015277:exon15:c.G1514A:p.W505X;NEDD4L:NM_001144967:exon16:c.G1574A:p.W525X;NEDD4L:NM_001144971:exon16:c.G1151A:p.W384X;NEDD4L:NM_001144968:exon16:c.G1550A:p.W517X;NEDD4L:NM_001144970:exon14:c.G1151A:p.W384X;NEDD4L:NM_001144965:exon16:c.G1211A:p.W404X;NEDD4L:NM_001144966:exon15:c.G1211A:p.W404X;NEDD4L:NM_001243960:exon14:c.G1382A:p.W461X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000435432:exon16:c.G1151A:p.W384X;ENSG00000049759:ENST00000382850:exon15:c.G1514A:p.W505X;ENSG00000049759:ENST00000456986:exon16:c.G1211A:p.W404X;ENSG00000049759:ENST00000256830:exon13:c.G1262A:p.W421X;ENSG00000049759:ENST00000456173:exon14:c.G1151A:p.W384X;ENSG00000049759:ENST00000357895:exon16:c.G1550A:p.W517X;ENSG00000049759:ENST00000256832:exon15:c.G1151A:p.W384X;ENSG00000049759:ENST00000431212:exon15:c.G1211A:p.W404X;ENSG00000049759:ENST00000356462:exon14:c.G1382A:p.W461X;ENSG00000049759:ENST00000400345:exon16:c.G1574A:p.W525X;ENSG00000049759:ENST00000586263:exon15:c.G1490A:p.W497X;	0.978380249305597	0.722
18	56010334	G	C	18	58343102	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1490C:p.W497S;NEDD4L:NM_001144964:exon16:c.G1211C:p.W404S;NEDD4L:NM_015277:exon15:c.G1514C:p.W505S;NEDD4L:NM_001144967:exon16:c.G1574C:p.W525S;NEDD4L:NM_001144971:exon16:c.G1151C:p.W384S;NEDD4L:NM_001144968:exon16:c.G1550C:p.W517S;NEDD4L:NM_001144970:exon14:c.G1151C:p.W384S;NEDD4L:NM_001144965:exon16:c.G1211C:p.W404S;NEDD4L:NM_001144966:exon15:c.G1211C:p.W404S;NEDD4L:NM_001243960:exon14:c.G1382C:p.W461S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G1151C:p.W384S;ENSG00000049759:ENST00000382850:exon15:c.G1514C:p.W505S;ENSG00000049759:ENST00000456986:exon16:c.G1211C:p.W404S;ENSG00000049759:ENST00000256830:exon13:c.G1262C:p.W421S;ENSG00000049759:ENST00000456173:exon14:c.G1151C:p.W384S;ENSG00000049759:ENST00000357895:exon16:c.G1550C:p.W517S;ENSG00000049759:ENST00000256832:exon15:c.G1151C:p.W384S;ENSG00000049759:ENST00000431212:exon15:c.G1211C:p.W404S;ENSG00000049759:ENST00000356462:exon14:c.G1382C:p.W461S;ENSG00000049759:ENST00000400345:exon16:c.G1574C:p.W525S;ENSG00000049759:ENST00000586263:exon15:c.G1490C:p.W497S;	0.988936492077312	0.916
18	56010334	G	T	18	58343102	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1490T:p.W497L;NEDD4L:NM_001144964:exon16:c.G1211T:p.W404L;NEDD4L:NM_015277:exon15:c.G1514T:p.W505L;NEDD4L:NM_001144967:exon16:c.G1574T:p.W525L;NEDD4L:NM_001144971:exon16:c.G1151T:p.W384L;NEDD4L:NM_001144968:exon16:c.G1550T:p.W517L;NEDD4L:NM_001144970:exon14:c.G1151T:p.W384L;NEDD4L:NM_001144965:exon16:c.G1211T:p.W404L;NEDD4L:NM_001144966:exon15:c.G1211T:p.W404L;NEDD4L:NM_001243960:exon14:c.G1382T:p.W461L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G1151T:p.W384L;ENSG00000049759:ENST00000382850:exon15:c.G1514T:p.W505L;ENSG00000049759:ENST00000456986:exon16:c.G1211T:p.W404L;ENSG00000049759:ENST00000256830:exon13:c.G1262T:p.W421L;ENSG00000049759:ENST00000456173:exon14:c.G1151T:p.W384L;ENSG00000049759:ENST00000357895:exon16:c.G1550T:p.W517L;ENSG00000049759:ENST00000256832:exon15:c.G1151T:p.W384L;ENSG00000049759:ENST00000431212:exon15:c.G1211T:p.W404L;ENSG00000049759:ENST00000356462:exon14:c.G1382T:p.W461L;ENSG00000049759:ENST00000400345:exon16:c.G1574T:p.W525L;ENSG00000049759:ENST00000586263:exon15:c.G1490T:p.W497L;	0.994872428694494	0.932
18	56010335	G	A	18	58343103	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon15:c.G1491A:p.W497X;NEDD4L:NM_001144964:exon16:c.G1212A:p.W404X;NEDD4L:NM_015277:exon15:c.G1515A:p.W505X;NEDD4L:NM_001144967:exon16:c.G1575A:p.W525X;NEDD4L:NM_001144971:exon16:c.G1152A:p.W384X;NEDD4L:NM_001144968:exon16:c.G1551A:p.W517X;NEDD4L:NM_001144970:exon14:c.G1152A:p.W384X;NEDD4L:NM_001144965:exon16:c.G1212A:p.W404X;NEDD4L:NM_001144966:exon15:c.G1212A:p.W404X;NEDD4L:NM_001243960:exon14:c.G1383A:p.W461X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000435432:exon16:c.G1152A:p.W384X;ENSG00000049759:ENST00000382850:exon15:c.G1515A:p.W505X;ENSG00000049759:ENST00000456986:exon16:c.G1212A:p.W404X;ENSG00000049759:ENST00000256830:exon13:c.G1263A:p.W421X;ENSG00000049759:ENST00000456173:exon14:c.G1152A:p.W384X;ENSG00000049759:ENST00000357895:exon16:c.G1551A:p.W517X;ENSG00000049759:ENST00000256832:exon15:c.G1152A:p.W384X;ENSG00000049759:ENST00000431212:exon15:c.G1212A:p.W404X;ENSG00000049759:ENST00000356462:exon14:c.G1383A:p.W461X;ENSG00000049759:ENST00000400345:exon16:c.G1575A:p.W525X;ENSG00000049759:ENST00000586263:exon15:c.G1491A:p.W497X;	0.999994868013052	0.998
18	56010335	G	C	18	58343103	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1491C:p.W497C;NEDD4L:NM_001144964:exon16:c.G1212C:p.W404C;NEDD4L:NM_015277:exon15:c.G1515C:p.W505C;NEDD4L:NM_001144967:exon16:c.G1575C:p.W525C;NEDD4L:NM_001144971:exon16:c.G1152C:p.W384C;NEDD4L:NM_001144968:exon16:c.G1551C:p.W517C;NEDD4L:NM_001144970:exon14:c.G1152C:p.W384C;NEDD4L:NM_001144965:exon16:c.G1212C:p.W404C;NEDD4L:NM_001144966:exon15:c.G1212C:p.W404C;NEDD4L:NM_001243960:exon14:c.G1383C:p.W461C;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G1152C:p.W384C;ENSG00000049759:ENST00000382850:exon15:c.G1515C:p.W505C;ENSG00000049759:ENST00000456986:exon16:c.G1212C:p.W404C;ENSG00000049759:ENST00000256830:exon13:c.G1263C:p.W421C;ENSG00000049759:ENST00000456173:exon14:c.G1152C:p.W384C;ENSG00000049759:ENST00000357895:exon16:c.G1551C:p.W517C;ENSG00000049759:ENST00000256832:exon15:c.G1152C:p.W384C;ENSG00000049759:ENST00000431212:exon15:c.G1212C:p.W404C;ENSG00000049759:ENST00000356462:exon14:c.G1383C:p.W461C;ENSG00000049759:ENST00000400345:exon16:c.G1575C:p.W525C;ENSG00000049759:ENST00000586263:exon15:c.G1491C:p.W497C;	0.999998320609481	0.988
18	56010335	G	T	18	58343103	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon15:c.G1491T:p.W497C;NEDD4L:NM_001144964:exon16:c.G1212T:p.W404C;NEDD4L:NM_015277:exon15:c.G1515T:p.W505C;NEDD4L:NM_001144967:exon16:c.G1575T:p.W525C;NEDD4L:NM_001144971:exon16:c.G1152T:p.W384C;NEDD4L:NM_001144968:exon16:c.G1551T:p.W517C;NEDD4L:NM_001144970:exon14:c.G1152T:p.W384C;NEDD4L:NM_001144965:exon16:c.G1212T:p.W404C;NEDD4L:NM_001144966:exon15:c.G1212T:p.W404C;NEDD4L:NM_001243960:exon14:c.G1383T:p.W461C;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000435432:exon16:c.G1152T:p.W384C;ENSG00000049759:ENST00000382850:exon15:c.G1515T:p.W505C;ENSG00000049759:ENST00000456986:exon16:c.G1212T:p.W404C;ENSG00000049759:ENST00000256830:exon13:c.G1263T:p.W421C;ENSG00000049759:ENST00000456173:exon14:c.G1152T:p.W384C;ENSG00000049759:ENST00000357895:exon16:c.G1551T:p.W517C;ENSG00000049759:ENST00000256832:exon15:c.G1152T:p.W384C;ENSG00000049759:ENST00000431212:exon15:c.G1212T:p.W404C;ENSG00000049759:ENST00000356462:exon14:c.G1383T:p.W461C;ENSG00000049759:ENST00000400345:exon16:c.G1575T:p.W525C;ENSG00000049759:ENST00000586263:exon15:c.G1491T:p.W497C;	0.999994415037265	1.0
18	56010336	G	A	18	58343104	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1575+1G>A;NM_001243960:exon14:c.1383+1G>A;NM_015277:exon15:c.1515+1G>A;NM_001144964:exon16:c.1212+1G>A;NM_001144968:exon16:c.1551+1G>A;NM_001144965:exon16:c.1212+1G>A;NM_001144971:exon16:c.1152+1G>A;NM_001144969:exon15:c.1491+1G>A;NM_001144970:exon14:c.1152+1G>A;NM_001144966:exon15:c.1212+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1383+1G>A;ENST00000400345:exon16:c.1575+1G>A;ENST00000256832:exon15:c.1152+1G>A;ENST00000382850:exon15:c.1515+1G>A;ENST00000256830:exon13:c.1263+1G>A;ENST00000456986:exon16:c.1212+1G>A;ENST00000357895:exon16:c.1551+1G>A;ENST00000435432:exon16:c.1152+1G>A;ENST00000586263:exon15:c.1491+1G>A;ENST00000456173:exon14:c.1152+1G>A;ENST00000431212:exon15:c.1212+1G>A)	.	.	0.999990361384395	0.938
18	56010336	G	C	18	58343104	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1575+1G>C;NM_001243960:exon14:c.1383+1G>C;NM_015277:exon15:c.1515+1G>C;NM_001144964:exon16:c.1212+1G>C;NM_001144968:exon16:c.1551+1G>C;NM_001144965:exon16:c.1212+1G>C;NM_001144971:exon16:c.1152+1G>C;NM_001144969:exon15:c.1491+1G>C;NM_001144970:exon14:c.1152+1G>C;NM_001144966:exon15:c.1212+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1383+1G>C;ENST00000400345:exon16:c.1575+1G>C;ENST00000256832:exon15:c.1152+1G>C;ENST00000382850:exon15:c.1515+1G>C;ENST00000256830:exon13:c.1263+1G>C;ENST00000456986:exon16:c.1212+1G>C;ENST00000357895:exon16:c.1551+1G>C;ENST00000435432:exon16:c.1152+1G>C;ENST00000586263:exon15:c.1491+1G>C;ENST00000456173:exon14:c.1152+1G>C;ENST00000431212:exon15:c.1212+1G>C)	.	.	0.999990361384395	0.938
18	56010336	G	T	18	58343104	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1575+1G>T;NM_001243960:exon14:c.1383+1G>T;NM_015277:exon15:c.1515+1G>T;NM_001144964:exon16:c.1212+1G>T;NM_001144968:exon16:c.1551+1G>T;NM_001144965:exon16:c.1212+1G>T;NM_001144971:exon16:c.1152+1G>T;NM_001144969:exon15:c.1491+1G>T;NM_001144970:exon14:c.1152+1G>T;NM_001144966:exon15:c.1212+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1383+1G>T;ENST00000400345:exon16:c.1575+1G>T;ENST00000256832:exon15:c.1152+1G>T;ENST00000382850:exon15:c.1515+1G>T;ENST00000256830:exon13:c.1263+1G>T;ENST00000456986:exon16:c.1212+1G>T;ENST00000357895:exon16:c.1551+1G>T;ENST00000435432:exon16:c.1152+1G>T;ENST00000586263:exon15:c.1491+1G>T;ENST00000456173:exon14:c.1152+1G>T;ENST00000431212:exon15:c.1212+1G>T)	.	.	0.999990361384395	0.938
18	56010337	T	A	18	58343105	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1575+2T>A;NM_001243960:exon14:c.1383+2T>A;NM_015277:exon15:c.1515+2T>A;NM_001144964:exon16:c.1212+2T>A;NM_001144968:exon16:c.1551+2T>A;NM_001144965:exon16:c.1212+2T>A;NM_001144971:exon16:c.1152+2T>A;NM_001144969:exon15:c.1491+2T>A;NM_001144970:exon14:c.1152+2T>A;NM_001144966:exon15:c.1212+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1383+2T>A;ENST00000400345:exon16:c.1575+2T>A;ENST00000256832:exon15:c.1152+2T>A;ENST00000382850:exon15:c.1515+2T>A;ENST00000256830:exon13:c.1263+2T>A;ENST00000456986:exon16:c.1212+2T>A;ENST00000357895:exon16:c.1551+2T>A;ENST00000435432:exon16:c.1152+2T>A;ENST00000586263:exon15:c.1491+2T>A;ENST00000456173:exon14:c.1152+2T>A;ENST00000431212:exon15:c.1212+2T>A)	.	.	0.999988247793601	0.932
18	56010337	T	C	18	58343105	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1575+2T>C;NM_001243960:exon14:c.1383+2T>C;NM_015277:exon15:c.1515+2T>C;NM_001144964:exon16:c.1212+2T>C;NM_001144968:exon16:c.1551+2T>C;NM_001144965:exon16:c.1212+2T>C;NM_001144971:exon16:c.1152+2T>C;NM_001144969:exon15:c.1491+2T>C;NM_001144970:exon14:c.1152+2T>C;NM_001144966:exon15:c.1212+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1383+2T>C;ENST00000400345:exon16:c.1575+2T>C;ENST00000256832:exon15:c.1152+2T>C;ENST00000382850:exon15:c.1515+2T>C;ENST00000256830:exon13:c.1263+2T>C;ENST00000456986:exon16:c.1212+2T>C;ENST00000357895:exon16:c.1551+2T>C;ENST00000435432:exon16:c.1152+2T>C;ENST00000586263:exon15:c.1491+2T>C;ENST00000456173:exon14:c.1152+2T>C;ENST00000431212:exon15:c.1212+2T>C)	.	.	0.999934643991786	0.884
18	56010337	T	G	18	58343105	y	y	splicing	NEDD4L(NM_001144967:exon16:c.1575+2T>G;NM_001243960:exon14:c.1383+2T>G;NM_015277:exon15:c.1515+2T>G;NM_001144964:exon16:c.1212+2T>G;NM_001144968:exon16:c.1551+2T>G;NM_001144965:exon16:c.1212+2T>G;NM_001144971:exon16:c.1152+2T>G;NM_001144969:exon15:c.1491+2T>G;NM_001144970:exon14:c.1152+2T>G;NM_001144966:exon15:c.1212+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon14:c.1383+2T>G;ENST00000400345:exon16:c.1575+2T>G;ENST00000256832:exon15:c.1152+2T>G;ENST00000382850:exon15:c.1515+2T>G;ENST00000256830:exon13:c.1263+2T>G;ENST00000456986:exon16:c.1212+2T>G;ENST00000357895:exon16:c.1551+2T>G;ENST00000435432:exon16:c.1152+2T>G;ENST00000586263:exon15:c.1491+2T>G;ENST00000456173:exon14:c.1152+2T>G;ENST00000431212:exon15:c.1212+2T>G)	.	.	0.999988247793601	0.932
18	56010338	A	C	18	58343106	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999964331103855	0.938
18	56010338	A	G	18	58343106	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997316262101502	0.704
18	56010338	A	T	18	58343106	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999970378498816	0.986
18	56010339	A	C	18	58343107	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998683178081807	0.932
18	56010339	A	G	18	58343107	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999002203438759	0.97
18	56010339	A	T	18	58343107	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999741577669343	0.926
18	56010340	G	A	18	58343108	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999985880230863	0.968
18	56010340	G	C	18	58343108	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999973005968449	0.974
18	56010340	G	T	18	58343108	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999975464000255	0.858
18	56010341	G	A	18	58343109	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00723934376630243	0.126
18	56010341	G	C	18	58343109	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0136786775724016	0.144
18	56010341	G	T	18	58343109	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.67326436547436E-4	0.008
18	56010342	C	A	18	58343110	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.48513590996671E-4	0.062
18	56010342	C	G	18	58343110	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.34097625724401E-4	0.022
18	56010342	C	T	18	58343110	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.61968490626263E-4	0.06
18	56010343	T	A	18	58343111	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.21347711847349E-4	0.108
18	56010343	T	C	18	58343111	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.74480428957818E-4	0.13
18	56010343	T	G	18	58343111	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.74480428957818E-4	0.116
18	56016757	T	A	18	58349525	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.98580215803684E-4	0.124
18	56016757	T	C	18	58349525	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.10558471129815E-4	0.004
18	56016757	T	G	18	58349525	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99409545837306	0.864
18	56016758	T	A	18	58349526	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0423708353432727	0.382
18	56016758	T	C	18	58349526	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00838549040518136	0.092
18	56016758	T	G	18	58349526	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0470037749452533	0.39
18	56016759	T	A	18	58349527	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0158385940944213	0.304
18	56016759	T	C	18	58349527	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00176595327871647	0.082
18	56016759	T	G	18	58349527	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00168022401418839	0.204
18	56016760	T	A	18	58349528	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.8814819391487E-5	0.058
18	56016760	T	C	18	58349528	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.27446596261339E-5	0.02
18	56016760	T	G	18	58349528	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.79049355753703E-4	0.058
18	56016761	T	A	18	58349529	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00392342010880654	0.09
18	56016761	T	C	18	58349529	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00127937734712336	0.056
18	56016761	T	G	18	58349529	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00260218018668203	0.12
18	56016762	C	A	18	58349530	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.91987991790097E-4	0.092
18	56016762	C	G	18	58349530	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.91420164550947E-4	0.062
18	56016762	C	T	18	58349530	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.04597455705007E-5	0.002
18	56016763	T	A	18	58349531	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00612038350903325	0.14
18	56016763	T	C	18	58349531	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.63589676765386E-4	0.016
18	56016763	T	G	18	58349531	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.016490916473923	0.122
18	56016764	T	A	18	58349532	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999758066048277	0.892
18	56016764	T	C	18	58349532	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0621358290907338	0.33
18	56016764	T	G	18	58349532	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.366383532779238	0.562
18	56016765	G	A	18	58349533	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.52487644306712E-4	0.002
18	56016765	G	C	18	58349533	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.21208143129147E-5	0.0
18	56016765	G	T	18	58349533	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.13363459128741E-5	0.0
18	56016766	C	A	18	58349534	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.926265948004833	0.77
18	56016766	C	G	18	58349534	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999918342939396	0.908
18	56016766	C	T	18	58349534	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0774932595743141	0.142
18	56016767	A	C	18	58349535	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1576-2A>C;NM_001243960:exon15:c.1384-2A>C;NM_015277:exon16:c.1516-2A>C;NM_001144964:exon17:c.1213-2A>C;NM_001144968:exon17:c.1552-2A>C;NM_001144965:exon17:c.1213-2A>C;NM_001144971:exon17:c.1153-2A>C;NM_001144969:exon16:c.1492-2A>C;NM_001144970:exon15:c.1153-2A>C;NM_001144966:exon16:c.1213-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1384-2A>C;ENST00000400345:exon17:c.1576-2A>C;ENST00000256832:exon16:c.1153-2A>C;ENST00000382850:exon16:c.1516-2A>C;ENST00000256830:exon14:c.1264-2A>C;ENST00000456986:exon17:c.1213-2A>C;ENST00000357895:exon17:c.1552-2A>C;ENST00000435432:exon17:c.1153-2A>C;ENST00000586263:exon16:c.1492-2A>C;ENST00000456173:exon15:c.1153-2A>C;ENST00000431212:exon16:c.1213-2A>C;ENST00000587881:exon6:c.568-2A>C)	.	.	0.999989917668626	0.928
18	56016767	A	G	18	58349535	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1576-2A>G;NM_001243960:exon15:c.1384-2A>G;NM_015277:exon16:c.1516-2A>G;NM_001144964:exon17:c.1213-2A>G;NM_001144968:exon17:c.1552-2A>G;NM_001144965:exon17:c.1213-2A>G;NM_001144971:exon17:c.1153-2A>G;NM_001144969:exon16:c.1492-2A>G;NM_001144970:exon15:c.1153-2A>G;NM_001144966:exon16:c.1213-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1384-2A>G;ENST00000400345:exon17:c.1576-2A>G;ENST00000256832:exon16:c.1153-2A>G;ENST00000382850:exon16:c.1516-2A>G;ENST00000256830:exon14:c.1264-2A>G;ENST00000456986:exon17:c.1213-2A>G;ENST00000357895:exon17:c.1552-2A>G;ENST00000435432:exon17:c.1153-2A>G;ENST00000586263:exon16:c.1492-2A>G;ENST00000456173:exon15:c.1153-2A>G;ENST00000431212:exon16:c.1213-2A>G;ENST00000587881:exon6:c.568-2A>G)	.	.	0.999989917668626	0.928
18	56016767	A	T	18	58349535	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1576-2A>T;NM_001243960:exon15:c.1384-2A>T;NM_015277:exon16:c.1516-2A>T;NM_001144964:exon17:c.1213-2A>T;NM_001144968:exon17:c.1552-2A>T;NM_001144965:exon17:c.1213-2A>T;NM_001144971:exon17:c.1153-2A>T;NM_001144969:exon16:c.1492-2A>T;NM_001144970:exon15:c.1153-2A>T;NM_001144966:exon16:c.1213-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1384-2A>T;ENST00000400345:exon17:c.1576-2A>T;ENST00000256832:exon16:c.1153-2A>T;ENST00000382850:exon16:c.1516-2A>T;ENST00000256830:exon14:c.1264-2A>T;ENST00000456986:exon17:c.1213-2A>T;ENST00000357895:exon17:c.1552-2A>T;ENST00000435432:exon17:c.1153-2A>T;ENST00000586263:exon16:c.1492-2A>T;ENST00000456173:exon15:c.1153-2A>T;ENST00000431212:exon16:c.1213-2A>T;ENST00000587881:exon6:c.568-2A>T)	.	.	0.999989917668626	0.928
18	56016768	G	A	18	58349536	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1576-1G>A;NM_001243960:exon15:c.1384-1G>A;NM_015277:exon16:c.1516-1G>A;NM_001144964:exon17:c.1213-1G>A;NM_001144968:exon17:c.1552-1G>A;NM_001144965:exon17:c.1213-1G>A;NM_001144971:exon17:c.1153-1G>A;NM_001144969:exon16:c.1492-1G>A;NM_001144970:exon15:c.1153-1G>A;NM_001144966:exon16:c.1213-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1384-1G>A;ENST00000400345:exon17:c.1576-1G>A;ENST00000256832:exon16:c.1153-1G>A;ENST00000382850:exon16:c.1516-1G>A;ENST00000256830:exon14:c.1264-1G>A;ENST00000456986:exon17:c.1213-1G>A;ENST00000357895:exon17:c.1552-1G>A;ENST00000435432:exon17:c.1153-1G>A;ENST00000586263:exon16:c.1492-1G>A;ENST00000456173:exon15:c.1153-1G>A;ENST00000431212:exon16:c.1213-1G>A;ENST00000587881:exon6:c.568-1G>A)	.	.	0.999986675681007	0.94
18	56016768	G	C	18	58349536	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1576-1G>C;NM_001243960:exon15:c.1384-1G>C;NM_015277:exon16:c.1516-1G>C;NM_001144964:exon17:c.1213-1G>C;NM_001144968:exon17:c.1552-1G>C;NM_001144965:exon17:c.1213-1G>C;NM_001144971:exon17:c.1153-1G>C;NM_001144969:exon16:c.1492-1G>C;NM_001144970:exon15:c.1153-1G>C;NM_001144966:exon16:c.1213-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1384-1G>C;ENST00000400345:exon17:c.1576-1G>C;ENST00000256832:exon16:c.1153-1G>C;ENST00000382850:exon16:c.1516-1G>C;ENST00000256830:exon14:c.1264-1G>C;ENST00000456986:exon17:c.1213-1G>C;ENST00000357895:exon17:c.1552-1G>C;ENST00000435432:exon17:c.1153-1G>C;ENST00000586263:exon16:c.1492-1G>C;ENST00000456173:exon15:c.1153-1G>C;ENST00000431212:exon16:c.1213-1G>C;ENST00000587881:exon6:c.568-1G>C)	.	.	0.999986675681007	0.94
18	56016768	G	T	18	58349536	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1576-1G>T;NM_001243960:exon15:c.1384-1G>T;NM_015277:exon16:c.1516-1G>T;NM_001144964:exon17:c.1213-1G>T;NM_001144968:exon17:c.1552-1G>T;NM_001144965:exon17:c.1213-1G>T;NM_001144971:exon17:c.1153-1G>T;NM_001144969:exon16:c.1492-1G>T;NM_001144970:exon15:c.1153-1G>T;NM_001144966:exon16:c.1213-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1384-1G>T;ENST00000400345:exon17:c.1576-1G>T;ENST00000256832:exon16:c.1153-1G>T;ENST00000382850:exon16:c.1516-1G>T;ENST00000256830:exon14:c.1264-1G>T;ENST00000456986:exon17:c.1213-1G>T;ENST00000357895:exon17:c.1552-1G>T;ENST00000435432:exon17:c.1153-1G>T;ENST00000586263:exon16:c.1492-1G>T;ENST00000456173:exon15:c.1153-1G>T;ENST00000431212:exon16:c.1213-1G>T;ENST00000587881:exon6:c.568-1G>T)	.	.	0.999986675681007	0.94
18	56016769	G	A	18	58349537	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.G1492A:p.E498K;NEDD4L:NM_001144964:exon17:c.G1213A:p.E405K;NEDD4L:NM_015277:exon16:c.G1516A:p.E506K;NEDD4L:NM_001144967:exon17:c.G1576A:p.E526K;NEDD4L:NM_001144971:exon17:c.G1153A:p.E385K;NEDD4L:NM_001144968:exon17:c.G1552A:p.E518K;NEDD4L:NM_001144970:exon15:c.G1153A:p.E385K;NEDD4L:NM_001144965:exon17:c.G1213A:p.E405K;NEDD4L:NM_001144966:exon16:c.G1213A:p.E405K;NEDD4L:NM_001243960:exon15:c.G1384A:p.E462K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.G568A:p.E190K;ENSG00000049759:ENST00000435432:exon17:c.G1153A:p.E385K;ENSG00000049759:ENST00000382850:exon16:c.G1516A:p.E506K;ENSG00000049759:ENST00000456986:exon17:c.G1213A:p.E405K;ENSG00000049759:ENST00000256830:exon14:c.G1264A:p.E422K;ENSG00000049759:ENST00000456173:exon15:c.G1153A:p.E385K;ENSG00000049759:ENST00000357895:exon17:c.G1552A:p.E518K;ENSG00000049759:ENST00000256832:exon16:c.G1153A:p.E385K;ENSG00000049759:ENST00000431212:exon16:c.G1213A:p.E405K;ENSG00000049759:ENST00000356462:exon15:c.G1384A:p.E462K;ENSG00000049759:ENST00000400345:exon17:c.G1576A:p.E526K;ENSG00000049759:ENST00000586263:exon16:c.G1492A:p.E498K;	0.997662154752199	0.73
18	56016769	G	C	18	58349537	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.G1492C:p.E498Q;NEDD4L:NM_001144964:exon17:c.G1213C:p.E405Q;NEDD4L:NM_015277:exon16:c.G1516C:p.E506Q;NEDD4L:NM_001144967:exon17:c.G1576C:p.E526Q;NEDD4L:NM_001144971:exon17:c.G1153C:p.E385Q;NEDD4L:NM_001144968:exon17:c.G1552C:p.E518Q;NEDD4L:NM_001144970:exon15:c.G1153C:p.E385Q;NEDD4L:NM_001144965:exon17:c.G1213C:p.E405Q;NEDD4L:NM_001144966:exon16:c.G1213C:p.E405Q;NEDD4L:NM_001243960:exon15:c.G1384C:p.E462Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.G568C:p.E190Q;ENSG00000049759:ENST00000435432:exon17:c.G1153C:p.E385Q;ENSG00000049759:ENST00000382850:exon16:c.G1516C:p.E506Q;ENSG00000049759:ENST00000456986:exon17:c.G1213C:p.E405Q;ENSG00000049759:ENST00000256830:exon14:c.G1264C:p.E422Q;ENSG00000049759:ENST00000456173:exon15:c.G1153C:p.E385Q;ENSG00000049759:ENST00000357895:exon17:c.G1552C:p.E518Q;ENSG00000049759:ENST00000256832:exon16:c.G1153C:p.E385Q;ENSG00000049759:ENST00000431212:exon16:c.G1213C:p.E405Q;ENSG00000049759:ENST00000356462:exon15:c.G1384C:p.E462Q;ENSG00000049759:ENST00000400345:exon17:c.G1576C:p.E526Q;ENSG00000049759:ENST00000586263:exon16:c.G1492C:p.E498Q;	0.999704259286312	0.9
18	56016769	G	T	18	58349537	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon16:c.G1492T:p.E498X;NEDD4L:NM_001144964:exon17:c.G1213T:p.E405X;NEDD4L:NM_015277:exon16:c.G1516T:p.E506X;NEDD4L:NM_001144967:exon17:c.G1576T:p.E526X;NEDD4L:NM_001144971:exon17:c.G1153T:p.E385X;NEDD4L:NM_001144968:exon17:c.G1552T:p.E518X;NEDD4L:NM_001144970:exon15:c.G1153T:p.E385X;NEDD4L:NM_001144965:exon17:c.G1213T:p.E405X;NEDD4L:NM_001144966:exon16:c.G1213T:p.E405X;NEDD4L:NM_001243960:exon15:c.G1384T:p.E462X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon6:c.G568T:p.E190X;ENSG00000049759:ENST00000435432:exon17:c.G1153T:p.E385X;ENSG00000049759:ENST00000382850:exon16:c.G1516T:p.E506X;ENSG00000049759:ENST00000456986:exon17:c.G1213T:p.E405X;ENSG00000049759:ENST00000256830:exon14:c.G1264T:p.E422X;ENSG00000049759:ENST00000456173:exon15:c.G1153T:p.E385X;ENSG00000049759:ENST00000357895:exon17:c.G1552T:p.E518X;ENSG00000049759:ENST00000256832:exon16:c.G1153T:p.E385X;ENSG00000049759:ENST00000431212:exon16:c.G1213T:p.E405X;ENSG00000049759:ENST00000356462:exon15:c.G1384T:p.E462X;ENSG00000049759:ENST00000400345:exon17:c.G1576T:p.E526X;ENSG00000049759:ENST00000586263:exon16:c.G1492T:p.E498X;	0.999745119878898	0.97
18	56016770	A	C	18	58349538	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.A1493C:p.E498A;NEDD4L:NM_001144964:exon17:c.A1214C:p.E405A;NEDD4L:NM_015277:exon16:c.A1517C:p.E506A;NEDD4L:NM_001144967:exon17:c.A1577C:p.E526A;NEDD4L:NM_001144971:exon17:c.A1154C:p.E385A;NEDD4L:NM_001144968:exon17:c.A1553C:p.E518A;NEDD4L:NM_001144970:exon15:c.A1154C:p.E385A;NEDD4L:NM_001144965:exon17:c.A1214C:p.E405A;NEDD4L:NM_001144966:exon16:c.A1214C:p.E405A;NEDD4L:NM_001243960:exon15:c.A1385C:p.E462A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.A569C:p.E190A;ENSG00000049759:ENST00000435432:exon17:c.A1154C:p.E385A;ENSG00000049759:ENST00000382850:exon16:c.A1517C:p.E506A;ENSG00000049759:ENST00000456986:exon17:c.A1214C:p.E405A;ENSG00000049759:ENST00000256830:exon14:c.A1265C:p.E422A;ENSG00000049759:ENST00000456173:exon15:c.A1154C:p.E385A;ENSG00000049759:ENST00000357895:exon17:c.A1553C:p.E518A;ENSG00000049759:ENST00000256832:exon16:c.A1154C:p.E385A;ENSG00000049759:ENST00000431212:exon16:c.A1214C:p.E405A;ENSG00000049759:ENST00000356462:exon15:c.A1385C:p.E462A;ENSG00000049759:ENST00000400345:exon17:c.A1577C:p.E526A;ENSG00000049759:ENST00000586263:exon16:c.A1493C:p.E498A;	0.042737999164206	0.236
18	56016770	A	G	18	58349538	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.A1493G:p.E498G;NEDD4L:NM_001144964:exon17:c.A1214G:p.E405G;NEDD4L:NM_015277:exon16:c.A1517G:p.E506G;NEDD4L:NM_001144967:exon17:c.A1577G:p.E526G;NEDD4L:NM_001144971:exon17:c.A1154G:p.E385G;NEDD4L:NM_001144968:exon17:c.A1553G:p.E518G;NEDD4L:NM_001144970:exon15:c.A1154G:p.E385G;NEDD4L:NM_001144965:exon17:c.A1214G:p.E405G;NEDD4L:NM_001144966:exon16:c.A1214G:p.E405G;NEDD4L:NM_001243960:exon15:c.A1385G:p.E462G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.A569G:p.E190G;ENSG00000049759:ENST00000435432:exon17:c.A1154G:p.E385G;ENSG00000049759:ENST00000382850:exon16:c.A1517G:p.E506G;ENSG00000049759:ENST00000456986:exon17:c.A1214G:p.E405G;ENSG00000049759:ENST00000256830:exon14:c.A1265G:p.E422G;ENSG00000049759:ENST00000456173:exon15:c.A1154G:p.E385G;ENSG00000049759:ENST00000357895:exon17:c.A1553G:p.E518G;ENSG00000049759:ENST00000256832:exon16:c.A1154G:p.E385G;ENSG00000049759:ENST00000431212:exon16:c.A1214G:p.E405G;ENSG00000049759:ENST00000356462:exon15:c.A1385G:p.E462G;ENSG00000049759:ENST00000400345:exon17:c.A1577G:p.E526G;ENSG00000049759:ENST00000586263:exon16:c.A1493G:p.E498G;	0.449694857042754	0.65
18	56016770	A	T	18	58349538	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.A1493T:p.E498V;NEDD4L:NM_001144964:exon17:c.A1214T:p.E405V;NEDD4L:NM_015277:exon16:c.A1517T:p.E506V;NEDD4L:NM_001144967:exon17:c.A1577T:p.E526V;NEDD4L:NM_001144971:exon17:c.A1154T:p.E385V;NEDD4L:NM_001144968:exon17:c.A1553T:p.E518V;NEDD4L:NM_001144970:exon15:c.A1154T:p.E385V;NEDD4L:NM_001144965:exon17:c.A1214T:p.E405V;NEDD4L:NM_001144966:exon16:c.A1214T:p.E405V;NEDD4L:NM_001243960:exon15:c.A1385T:p.E462V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.A569T:p.E190V;ENSG00000049759:ENST00000435432:exon17:c.A1154T:p.E385V;ENSG00000049759:ENST00000382850:exon16:c.A1517T:p.E506V;ENSG00000049759:ENST00000456986:exon17:c.A1214T:p.E405V;ENSG00000049759:ENST00000256830:exon14:c.A1265T:p.E422V;ENSG00000049759:ENST00000456173:exon15:c.A1154T:p.E385V;ENSG00000049759:ENST00000357895:exon17:c.A1553T:p.E518V;ENSG00000049759:ENST00000256832:exon16:c.A1154T:p.E385V;ENSG00000049759:ENST00000431212:exon16:c.A1214T:p.E405V;ENSG00000049759:ENST00000356462:exon15:c.A1385T:p.E462V;ENSG00000049759:ENST00000400345:exon17:c.A1577T:p.E526V;ENSG00000049759:ENST00000586263:exon16:c.A1493T:p.E498V;	0.00679913038478809	0.13
18	56016844	C	A	18	58349612	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.C1567A:p.P523T;NEDD4L:NM_001144964:exon17:c.C1288A:p.P430T;NEDD4L:NM_015277:exon16:c.C1591A:p.P531T;NEDD4L:NM_001144967:exon17:c.C1651A:p.P551T;NEDD4L:NM_001144971:exon17:c.C1228A:p.P410T;NEDD4L:NM_001144968:exon17:c.C1627A:p.P543T;NEDD4L:NM_001144970:exon15:c.C1228A:p.P410T;NEDD4L:NM_001144965:exon17:c.C1288A:p.P430T;NEDD4L:NM_001144966:exon16:c.C1288A:p.P430T;NEDD4L:NM_001243960:exon15:c.C1459A:p.P487T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.C643A:p.P215T;ENSG00000049759:ENST00000435432:exon17:c.C1228A:p.P410T;ENSG00000049759:ENST00000382850:exon16:c.C1591A:p.P531T;ENSG00000049759:ENST00000456986:exon17:c.C1288A:p.P430T;ENSG00000049759:ENST00000256830:exon14:c.C1339A:p.P447T;ENSG00000049759:ENST00000456173:exon15:c.C1228A:p.P410T;ENSG00000049759:ENST00000357895:exon17:c.C1627A:p.P543T;ENSG00000049759:ENST00000256832:exon16:c.C1228A:p.P410T;ENSG00000049759:ENST00000431212:exon16:c.C1288A:p.P430T;ENSG00000049759:ENST00000356462:exon15:c.C1459A:p.P487T;ENSG00000049759:ENST00000400345:exon17:c.C1651A:p.P551T;ENSG00000049759:ENST00000586263:exon16:c.C1567A:p.P523T;	0.903957246544986	0.756
18	56016844	C	G	18	58349612	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.C1567G:p.P523A;NEDD4L:NM_001144964:exon17:c.C1288G:p.P430A;NEDD4L:NM_015277:exon16:c.C1591G:p.P531A;NEDD4L:NM_001144967:exon17:c.C1651G:p.P551A;NEDD4L:NM_001144971:exon17:c.C1228G:p.P410A;NEDD4L:NM_001144968:exon17:c.C1627G:p.P543A;NEDD4L:NM_001144970:exon15:c.C1228G:p.P410A;NEDD4L:NM_001144965:exon17:c.C1288G:p.P430A;NEDD4L:NM_001144966:exon16:c.C1288G:p.P430A;NEDD4L:NM_001243960:exon15:c.C1459G:p.P487A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.C643G:p.P215A;ENSG00000049759:ENST00000435432:exon17:c.C1228G:p.P410A;ENSG00000049759:ENST00000382850:exon16:c.C1591G:p.P531A;ENSG00000049759:ENST00000456986:exon17:c.C1288G:p.P430A;ENSG00000049759:ENST00000256830:exon14:c.C1339G:p.P447A;ENSG00000049759:ENST00000456173:exon15:c.C1228G:p.P410A;ENSG00000049759:ENST00000357895:exon17:c.C1627G:p.P543A;ENSG00000049759:ENST00000256832:exon16:c.C1228G:p.P410A;ENSG00000049759:ENST00000431212:exon16:c.C1288G:p.P430A;ENSG00000049759:ENST00000356462:exon15:c.C1459G:p.P487A;ENSG00000049759:ENST00000400345:exon17:c.C1651G:p.P551A;ENSG00000049759:ENST00000586263:exon16:c.C1567G:p.P523A;	0.92003208473418	0.592
18	56016844	C	T	18	58349612	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.C1567T:p.P523S;NEDD4L:NM_001144964:exon17:c.C1288T:p.P430S;NEDD4L:NM_015277:exon16:c.C1591T:p.P531S;NEDD4L:NM_001144967:exon17:c.C1651T:p.P551S;NEDD4L:NM_001144971:exon17:c.C1228T:p.P410S;NEDD4L:NM_001144968:exon17:c.C1627T:p.P543S;NEDD4L:NM_001144970:exon15:c.C1228T:p.P410S;NEDD4L:NM_001144965:exon17:c.C1288T:p.P430S;NEDD4L:NM_001144966:exon16:c.C1288T:p.P430S;NEDD4L:NM_001243960:exon15:c.C1459T:p.P487S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.C643T:p.P215S;ENSG00000049759:ENST00000435432:exon17:c.C1228T:p.P410S;ENSG00000049759:ENST00000382850:exon16:c.C1591T:p.P531S;ENSG00000049759:ENST00000456986:exon17:c.C1288T:p.P430S;ENSG00000049759:ENST00000256830:exon14:c.C1339T:p.P447S;ENSG00000049759:ENST00000456173:exon15:c.C1228T:p.P410S;ENSG00000049759:ENST00000357895:exon17:c.C1627T:p.P543S;ENSG00000049759:ENST00000256832:exon16:c.C1228T:p.P410S;ENSG00000049759:ENST00000431212:exon16:c.C1288T:p.P430S;ENSG00000049759:ENST00000356462:exon15:c.C1459T:p.P487S;ENSG00000049759:ENST00000400345:exon17:c.C1651T:p.P551S;ENSG00000049759:ENST00000586263:exon16:c.C1567T:p.P523S;	0.998807392662779	0.794
18	56016845	C	A	18	58349613	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.C1568A:p.P523H;NEDD4L:NM_001144964:exon17:c.C1289A:p.P430H;NEDD4L:NM_015277:exon16:c.C1592A:p.P531H;NEDD4L:NM_001144967:exon17:c.C1652A:p.P551H;NEDD4L:NM_001144971:exon17:c.C1229A:p.P410H;NEDD4L:NM_001144968:exon17:c.C1628A:p.P543H;NEDD4L:NM_001144970:exon15:c.C1229A:p.P410H;NEDD4L:NM_001144965:exon17:c.C1289A:p.P430H;NEDD4L:NM_001144966:exon16:c.C1289A:p.P430H;NEDD4L:NM_001243960:exon15:c.C1460A:p.P487H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.C644A:p.P215H;ENSG00000049759:ENST00000435432:exon17:c.C1229A:p.P410H;ENSG00000049759:ENST00000382850:exon16:c.C1592A:p.P531H;ENSG00000049759:ENST00000456986:exon17:c.C1289A:p.P430H;ENSG00000049759:ENST00000256830:exon14:c.C1340A:p.P447H;ENSG00000049759:ENST00000456173:exon15:c.C1229A:p.P410H;ENSG00000049759:ENST00000357895:exon17:c.C1628A:p.P543H;ENSG00000049759:ENST00000256832:exon16:c.C1229A:p.P410H;ENSG00000049759:ENST00000431212:exon16:c.C1289A:p.P430H;ENSG00000049759:ENST00000356462:exon15:c.C1460A:p.P487H;ENSG00000049759:ENST00000400345:exon17:c.C1652A:p.P551H;ENSG00000049759:ENST00000586263:exon16:c.C1568A:p.P523H;	0.948535906914703	0.64
18	56016845	C	G	18	58349613	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.C1568G:p.P523R;NEDD4L:NM_001144964:exon17:c.C1289G:p.P430R;NEDD4L:NM_015277:exon16:c.C1592G:p.P531R;NEDD4L:NM_001144967:exon17:c.C1652G:p.P551R;NEDD4L:NM_001144971:exon17:c.C1229G:p.P410R;NEDD4L:NM_001144968:exon17:c.C1628G:p.P543R;NEDD4L:NM_001144970:exon15:c.C1229G:p.P410R;NEDD4L:NM_001144965:exon17:c.C1289G:p.P430R;NEDD4L:NM_001144966:exon16:c.C1289G:p.P430R;NEDD4L:NM_001243960:exon15:c.C1460G:p.P487R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.C644G:p.P215R;ENSG00000049759:ENST00000435432:exon17:c.C1229G:p.P410R;ENSG00000049759:ENST00000382850:exon16:c.C1592G:p.P531R;ENSG00000049759:ENST00000456986:exon17:c.C1289G:p.P430R;ENSG00000049759:ENST00000256830:exon14:c.C1340G:p.P447R;ENSG00000049759:ENST00000456173:exon15:c.C1229G:p.P410R;ENSG00000049759:ENST00000357895:exon17:c.C1628G:p.P543R;ENSG00000049759:ENST00000256832:exon16:c.C1229G:p.P410R;ENSG00000049759:ENST00000431212:exon16:c.C1289G:p.P430R;ENSG00000049759:ENST00000356462:exon15:c.C1460G:p.P487R;ENSG00000049759:ENST00000400345:exon17:c.C1652G:p.P551R;ENSG00000049759:ENST00000586263:exon16:c.C1568G:p.P523R;	0.985053458010385	0.916
18	56016845	C	T	18	58349613	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon16:c.C1568T:p.P523L;NEDD4L:NM_001144964:exon17:c.C1289T:p.P430L;NEDD4L:NM_015277:exon16:c.C1592T:p.P531L;NEDD4L:NM_001144967:exon17:c.C1652T:p.P551L;NEDD4L:NM_001144971:exon17:c.C1229T:p.P410L;NEDD4L:NM_001144968:exon17:c.C1628T:p.P543L;NEDD4L:NM_001144970:exon15:c.C1229T:p.P410L;NEDD4L:NM_001144965:exon17:c.C1289T:p.P430L;NEDD4L:NM_001144966:exon16:c.C1289T:p.P430L;NEDD4L:NM_001243960:exon15:c.C1460T:p.P487L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.C644T:p.P215L;ENSG00000049759:ENST00000435432:exon17:c.C1229T:p.P410L;ENSG00000049759:ENST00000382850:exon16:c.C1592T:p.P531L;ENSG00000049759:ENST00000456986:exon17:c.C1289T:p.P430L;ENSG00000049759:ENST00000256830:exon14:c.C1340T:p.P447L;ENSG00000049759:ENST00000456173:exon15:c.C1229T:p.P410L;ENSG00000049759:ENST00000357895:exon17:c.C1628T:p.P543L;ENSG00000049759:ENST00000256832:exon16:c.C1229T:p.P410L;ENSG00000049759:ENST00000431212:exon16:c.C1289T:p.P430L;ENSG00000049759:ENST00000356462:exon15:c.C1460T:p.P487L;ENSG00000049759:ENST00000400345:exon17:c.C1652T:p.P551L;ENSG00000049759:ENST00000586263:exon16:c.C1568T:p.P523L;	0.991497768443503	0.872
18	56016846	T	A	18	58349614	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon16:c.T1569A:p.P523P;NEDD4L:NM_001144964:exon17:c.T1290A:p.P430P;NEDD4L:NM_015277:exon16:c.T1593A:p.P531P;NEDD4L:NM_001144967:exon17:c.T1653A:p.P551P;NEDD4L:NM_001144971:exon17:c.T1230A:p.P410P;NEDD4L:NM_001144968:exon17:c.T1629A:p.P543P;NEDD4L:NM_001144970:exon15:c.T1230A:p.P410P;NEDD4L:NM_001144965:exon17:c.T1290A:p.P430P;NEDD4L:NM_001144966:exon16:c.T1290A:p.P430P;NEDD4L:NM_001243960:exon15:c.T1461A:p.P487P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.T645A:p.P215P;ENSG00000049759:ENST00000435432:exon17:c.T1230A:p.P410P;ENSG00000049759:ENST00000382850:exon16:c.T1593A:p.P531P;ENSG00000049759:ENST00000456986:exon17:c.T1290A:p.P430P;ENSG00000049759:ENST00000256830:exon14:c.T1341A:p.P447P;ENSG00000049759:ENST00000456173:exon15:c.T1230A:p.P410P;ENSG00000049759:ENST00000357895:exon17:c.T1629A:p.P543P;ENSG00000049759:ENST00000256832:exon16:c.T1230A:p.P410P;ENSG00000049759:ENST00000431212:exon16:c.T1290A:p.P430P;ENSG00000049759:ENST00000356462:exon15:c.T1461A:p.P487P;ENSG00000049759:ENST00000400345:exon17:c.T1653A:p.P551P;ENSG00000049759:ENST00000586263:exon16:c.T1569A:p.P523P;	0.00179137917696947	0.074
18	56016846	T	C	18	58349614	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon16:c.T1569C:p.P523P;NEDD4L:NM_001144964:exon17:c.T1290C:p.P430P;NEDD4L:NM_015277:exon16:c.T1593C:p.P531P;NEDD4L:NM_001144967:exon17:c.T1653C:p.P551P;NEDD4L:NM_001144971:exon17:c.T1230C:p.P410P;NEDD4L:NM_001144968:exon17:c.T1629C:p.P543P;NEDD4L:NM_001144970:exon15:c.T1230C:p.P410P;NEDD4L:NM_001144965:exon17:c.T1290C:p.P430P;NEDD4L:NM_001144966:exon16:c.T1290C:p.P430P;NEDD4L:NM_001243960:exon15:c.T1461C:p.P487P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.T645C:p.P215P;ENSG00000049759:ENST00000435432:exon17:c.T1230C:p.P410P;ENSG00000049759:ENST00000382850:exon16:c.T1593C:p.P531P;ENSG00000049759:ENST00000456986:exon17:c.T1290C:p.P430P;ENSG00000049759:ENST00000256830:exon14:c.T1341C:p.P447P;ENSG00000049759:ENST00000456173:exon15:c.T1230C:p.P410P;ENSG00000049759:ENST00000357895:exon17:c.T1629C:p.P543P;ENSG00000049759:ENST00000256832:exon16:c.T1230C:p.P410P;ENSG00000049759:ENST00000431212:exon16:c.T1290C:p.P430P;ENSG00000049759:ENST00000356462:exon15:c.T1461C:p.P487P;ENSG00000049759:ENST00000400345:exon17:c.T1653C:p.P551P;ENSG00000049759:ENST00000586263:exon16:c.T1569C:p.P523P;	0.0201017055943389	0.246
18	56016846	T	G	18	58349614	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon16:c.T1569G:p.P523P;NEDD4L:NM_001144964:exon17:c.T1290G:p.P430P;NEDD4L:NM_015277:exon16:c.T1593G:p.P531P;NEDD4L:NM_001144967:exon17:c.T1653G:p.P551P;NEDD4L:NM_001144971:exon17:c.T1230G:p.P410P;NEDD4L:NM_001144968:exon17:c.T1629G:p.P543P;NEDD4L:NM_001144970:exon15:c.T1230G:p.P410P;NEDD4L:NM_001144965:exon17:c.T1290G:p.P430P;NEDD4L:NM_001144966:exon16:c.T1290G:p.P430P;NEDD4L:NM_001243960:exon15:c.T1461G:p.P487P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon6:c.T645G:p.P215P;ENSG00000049759:ENST00000435432:exon17:c.T1230G:p.P410P;ENSG00000049759:ENST00000382850:exon16:c.T1593G:p.P531P;ENSG00000049759:ENST00000456986:exon17:c.T1290G:p.P430P;ENSG00000049759:ENST00000256830:exon14:c.T1341G:p.P447P;ENSG00000049759:ENST00000456173:exon15:c.T1230G:p.P410P;ENSG00000049759:ENST00000357895:exon17:c.T1629G:p.P543P;ENSG00000049759:ENST00000256832:exon16:c.T1230G:p.P410P;ENSG00000049759:ENST00000431212:exon16:c.T1290G:p.P430P;ENSG00000049759:ENST00000356462:exon15:c.T1461G:p.P487P;ENSG00000049759:ENST00000400345:exon17:c.T1653G:p.P551P;ENSG00000049759:ENST00000586263:exon16:c.T1569G:p.P523P;	0.0053773584357474	0.162
18	56016847	G	A	18	58349615	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1653+1G>A;NM_001243960:exon15:c.1461+1G>A;NM_015277:exon16:c.1593+1G>A;NM_001144964:exon17:c.1290+1G>A;NM_001144968:exon17:c.1629+1G>A;NM_001144965:exon17:c.1290+1G>A;NM_001144971:exon17:c.1230+1G>A;NM_001144969:exon16:c.1569+1G>A;NM_001144970:exon15:c.1230+1G>A;NM_001144966:exon16:c.1290+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1461+1G>A;ENST00000400345:exon17:c.1653+1G>A;ENST00000256832:exon16:c.1230+1G>A;ENST00000382850:exon16:c.1593+1G>A;ENST00000256830:exon14:c.1341+1G>A;ENST00000456986:exon17:c.1290+1G>A;ENST00000357895:exon17:c.1629+1G>A;ENST00000435432:exon17:c.1230+1G>A;ENST00000586263:exon16:c.1569+1G>A;ENST00000456173:exon15:c.1230+1G>A;ENST00000431212:exon16:c.1290+1G>A;ENST00000587881:exon6:c.645+1G>A)	.	.	0.999986675681007	0.94
18	56016847	G	C	18	58349615	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1653+1G>C;NM_001243960:exon15:c.1461+1G>C;NM_015277:exon16:c.1593+1G>C;NM_001144964:exon17:c.1290+1G>C;NM_001144968:exon17:c.1629+1G>C;NM_001144965:exon17:c.1290+1G>C;NM_001144971:exon17:c.1230+1G>C;NM_001144969:exon16:c.1569+1G>C;NM_001144970:exon15:c.1230+1G>C;NM_001144966:exon16:c.1290+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1461+1G>C;ENST00000400345:exon17:c.1653+1G>C;ENST00000256832:exon16:c.1230+1G>C;ENST00000382850:exon16:c.1593+1G>C;ENST00000256830:exon14:c.1341+1G>C;ENST00000456986:exon17:c.1290+1G>C;ENST00000357895:exon17:c.1629+1G>C;ENST00000435432:exon17:c.1230+1G>C;ENST00000586263:exon16:c.1569+1G>C;ENST00000456173:exon15:c.1230+1G>C;ENST00000431212:exon16:c.1290+1G>C;ENST00000587881:exon6:c.645+1G>C)	.	.	0.999986675681007	0.94
18	56016847	G	T	18	58349615	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1653+1G>T;NM_001243960:exon15:c.1461+1G>T;NM_015277:exon16:c.1593+1G>T;NM_001144964:exon17:c.1290+1G>T;NM_001144968:exon17:c.1629+1G>T;NM_001144965:exon17:c.1290+1G>T;NM_001144971:exon17:c.1230+1G>T;NM_001144969:exon16:c.1569+1G>T;NM_001144970:exon15:c.1230+1G>T;NM_001144966:exon16:c.1290+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1461+1G>T;ENST00000400345:exon17:c.1653+1G>T;ENST00000256832:exon16:c.1230+1G>T;ENST00000382850:exon16:c.1593+1G>T;ENST00000256830:exon14:c.1341+1G>T;ENST00000456986:exon17:c.1290+1G>T;ENST00000357895:exon17:c.1629+1G>T;ENST00000435432:exon17:c.1230+1G>T;ENST00000586263:exon16:c.1569+1G>T;ENST00000456173:exon15:c.1230+1G>T;ENST00000431212:exon16:c.1290+1G>T;ENST00000587881:exon6:c.645+1G>T)	.	.	0.999986675681007	0.94
18	56016848	T	A	18	58349616	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1653+2T>A;NM_001243960:exon15:c.1461+2T>A;NM_015277:exon16:c.1593+2T>A;NM_001144964:exon17:c.1290+2T>A;NM_001144968:exon17:c.1629+2T>A;NM_001144965:exon17:c.1290+2T>A;NM_001144971:exon17:c.1230+2T>A;NM_001144969:exon16:c.1569+2T>A;NM_001144970:exon15:c.1230+2T>A;NM_001144966:exon16:c.1290+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1461+2T>A;ENST00000400345:exon17:c.1653+2T>A;ENST00000256832:exon16:c.1230+2T>A;ENST00000382850:exon16:c.1593+2T>A;ENST00000256830:exon14:c.1341+2T>A;ENST00000456986:exon17:c.1290+2T>A;ENST00000357895:exon17:c.1629+2T>A;ENST00000435432:exon17:c.1230+2T>A;ENST00000586263:exon16:c.1569+2T>A;ENST00000456173:exon15:c.1230+2T>A;ENST00000431212:exon16:c.1290+2T>A;ENST00000587881:exon6:c.645+2T>A)	.	.	0.999989917668626	0.928
18	56016848	T	C	18	58349616	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1653+2T>C;NM_001243960:exon15:c.1461+2T>C;NM_015277:exon16:c.1593+2T>C;NM_001144964:exon17:c.1290+2T>C;NM_001144968:exon17:c.1629+2T>C;NM_001144965:exon17:c.1290+2T>C;NM_001144971:exon17:c.1230+2T>C;NM_001144969:exon16:c.1569+2T>C;NM_001144970:exon15:c.1230+2T>C;NM_001144966:exon16:c.1290+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1461+2T>C;ENST00000400345:exon17:c.1653+2T>C;ENST00000256832:exon16:c.1230+2T>C;ENST00000382850:exon16:c.1593+2T>C;ENST00000256830:exon14:c.1341+2T>C;ENST00000456986:exon17:c.1290+2T>C;ENST00000357895:exon17:c.1629+2T>C;ENST00000435432:exon17:c.1230+2T>C;ENST00000586263:exon16:c.1569+2T>C;ENST00000456173:exon15:c.1230+2T>C;ENST00000431212:exon16:c.1290+2T>C;ENST00000587881:exon6:c.645+2T>C)	.	.	0.999945495543047	0.862
18	56016848	T	G	18	58349616	y	y	splicing	NEDD4L(NM_001144967:exon17:c.1653+2T>G;NM_001243960:exon15:c.1461+2T>G;NM_015277:exon16:c.1593+2T>G;NM_001144964:exon17:c.1290+2T>G;NM_001144968:exon17:c.1629+2T>G;NM_001144965:exon17:c.1290+2T>G;NM_001144971:exon17:c.1230+2T>G;NM_001144969:exon16:c.1569+2T>G;NM_001144970:exon15:c.1230+2T>G;NM_001144966:exon16:c.1290+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon15:c.1461+2T>G;ENST00000400345:exon17:c.1653+2T>G;ENST00000256832:exon16:c.1230+2T>G;ENST00000382850:exon16:c.1593+2T>G;ENST00000256830:exon14:c.1341+2T>G;ENST00000456986:exon17:c.1290+2T>G;ENST00000357895:exon17:c.1629+2T>G;ENST00000435432:exon17:c.1230+2T>G;ENST00000586263:exon16:c.1569+2T>G;ENST00000456173:exon15:c.1230+2T>G;ENST00000431212:exon16:c.1290+2T>G;ENST00000587881:exon6:c.645+2T>G)	.	.	0.999989917668626	0.928
18	56016849	G	A	18	58349617	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00516588100127598	0.016
18	56016849	G	C	18	58349617	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999886461889798	0.852
18	56016849	G	T	18	58349617	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999921890784268	0.822
18	56016850	A	C	18	58349618	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999102581233226	0.93
18	56016850	A	G	18	58349618	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.9996808627755	0.938
18	56016850	A	T	18	58349618	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999901501492922	0.928
18	56016851	G	A	18	58349619	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99996671176368	0.99
18	56016851	G	C	18	58349619	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999964338533138	0.984
18	56016851	G	T	18	58349619	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999950291575004	0.978
18	56016852	T	A	18	58349620	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999508861920461	0.78
18	56016852	T	C	18	58349620	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.995687706390864	0.932
18	56016852	T	G	18	58349620	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.991144029455916	0.856
18	56016853	A	C	18	58349621	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.269606695410807	0.494
18	56016853	A	G	18	58349621	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.269606695410807	0.506
18	56016853	A	T	18	58349621	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.427038522446623	0.57
18	56016854	C	A	18	58349622	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.4797410037255E-4	0.088
18	56016854	C	G	18	58349622	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.75807064297815E-4	0.08
18	56016854	C	T	18	58349622	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.04801977262266E-5	0.002
18	56018211	C	A	18	58350979	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0822479642996086	0.176
18	56018211	C	G	18	58350979	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0732231316504544	0.206
18	56018211	C	T	18	58350979	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.12740554520325E-4	0.026
18	56018212	C	A	18	58350980	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.026395971526552	0.144
18	56018212	C	G	18	58350980	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00431583698688327	0.118
18	56018212	C	T	18	58350980	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.75889136849086E-5	0.006
18	56018213	C	A	18	58350981	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996802896018782	0.872
18	56018213	C	G	18	58350981	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00252758003502158	0.068
18	56018213	C	T	18	58350981	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.75693776376732E-5	0.002
18	56018214	G	A	18	58350982	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997939320441698	0.95
18	56018214	G	C	18	58350982	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.85568721037255E-4	0.04
18	56018214	G	T	18	58350982	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.85568721037255E-4	0.054
18	56018215	G	A	18	58350983	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.27965663375064E-4	0.098
18	56018215	G	C	18	58350983	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.54333317399432E-4	0.102
18	56018215	G	T	18	58350983	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.58014279518912E-4	0.1
18	56018216	A	C	18	58350984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0568899973325041	0.348
18	56018216	A	G	18	58350984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.428265904252687	0.522
18	56018216	A	T	18	58350984	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0568899973325041	0.358
18	56018217	T	A	18	58350985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.887416103916481	0.71
18	56018217	T	C	18	58350985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00132521254677023	0.08
18	56018217	T	G	18	58350985	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999960359272584	0.964
18	56018218	A	C	18	58350986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.44366602535084E-5	0.072
18	56018218	A	G	18	58350986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.18644215477556E-5	0.042
18	56018218	A	T	18	58350986	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.48089446594558E-5	0.044
18	56018219	C	A	18	58350987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.71226598719439E-5	0.06
18	56018219	C	G	18	58350987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997426012299941	0.96
18	56018219	C	T	18	58350987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.66245646408726E-4	0.046
18	56018220	T	A	18	58350988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.180832721831898	0.396
18	56018220	T	C	18	58350988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.63339232114571E-5	0.02
18	56018220	T	G	18	58350988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.643466925901823	0.51
18	56018221	A	C	18	58350989	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1654-2A>C;NM_001243960:exon16:c.1462-2A>C;NM_015277:exon17:c.1594-2A>C;NM_001144964:exon18:c.1291-2A>C;NM_001144968:exon18:c.1630-2A>C;NM_001144965:exon18:c.1291-2A>C;NM_001144971:exon18:c.1231-2A>C;NM_001144969:exon17:c.1570-2A>C;NM_001144970:exon16:c.1231-2A>C;NM_001144966:exon17:c.1291-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1462-2A>C;ENST00000400345:exon18:c.1654-2A>C;ENST00000256832:exon17:c.1231-2A>C;ENST00000382850:exon17:c.1594-2A>C;ENST00000256830:exon15:c.1342-2A>C;ENST00000456986:exon18:c.1291-2A>C;ENST00000357895:exon18:c.1630-2A>C;ENST00000435432:exon18:c.1231-2A>C;ENST00000586263:exon17:c.1570-2A>C;ENST00000456173:exon16:c.1231-2A>C;ENST00000431212:exon17:c.1291-2A>C;ENST00000587881:exon7:c.646-2A>C)	.	.	0.999982322733069	0.912
18	56018221	A	G	18	58350989	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1654-2A>G;NM_001243960:exon16:c.1462-2A>G;NM_015277:exon17:c.1594-2A>G;NM_001144964:exon18:c.1291-2A>G;NM_001144968:exon18:c.1630-2A>G;NM_001144965:exon18:c.1291-2A>G;NM_001144971:exon18:c.1231-2A>G;NM_001144969:exon17:c.1570-2A>G;NM_001144970:exon16:c.1231-2A>G;NM_001144966:exon17:c.1291-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1462-2A>G;ENST00000400345:exon18:c.1654-2A>G;ENST00000256832:exon17:c.1231-2A>G;ENST00000382850:exon17:c.1594-2A>G;ENST00000256830:exon15:c.1342-2A>G;ENST00000456986:exon18:c.1291-2A>G;ENST00000357895:exon18:c.1630-2A>G;ENST00000435432:exon18:c.1231-2A>G;ENST00000586263:exon17:c.1570-2A>G;ENST00000456173:exon16:c.1231-2A>G;ENST00000431212:exon17:c.1291-2A>G;ENST00000587881:exon7:c.646-2A>G)	.	.	0.999982322733069	0.914
18	56018221	A	T	18	58350989	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1654-2A>T;NM_001243960:exon16:c.1462-2A>T;NM_015277:exon17:c.1594-2A>T;NM_001144964:exon18:c.1291-2A>T;NM_001144968:exon18:c.1630-2A>T;NM_001144965:exon18:c.1291-2A>T;NM_001144971:exon18:c.1231-2A>T;NM_001144969:exon17:c.1570-2A>T;NM_001144970:exon16:c.1231-2A>T;NM_001144966:exon17:c.1291-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1462-2A>T;ENST00000400345:exon18:c.1654-2A>T;ENST00000256832:exon17:c.1231-2A>T;ENST00000382850:exon17:c.1594-2A>T;ENST00000256830:exon15:c.1342-2A>T;ENST00000456986:exon18:c.1291-2A>T;ENST00000357895:exon18:c.1630-2A>T;ENST00000435432:exon18:c.1231-2A>T;ENST00000586263:exon17:c.1570-2A>T;ENST00000456173:exon16:c.1231-2A>T;ENST00000431212:exon17:c.1291-2A>T;ENST00000587881:exon7:c.646-2A>T)	.	.	0.999982322733069	0.916
18	56018222	G	A	18	58350990	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1654-1G>A;NM_001243960:exon16:c.1462-1G>A;NM_015277:exon17:c.1594-1G>A;NM_001144964:exon18:c.1291-1G>A;NM_001144968:exon18:c.1630-1G>A;NM_001144965:exon18:c.1291-1G>A;NM_001144971:exon18:c.1231-1G>A;NM_001144969:exon17:c.1570-1G>A;NM_001144970:exon16:c.1231-1G>A;NM_001144966:exon17:c.1291-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1462-1G>A;ENST00000400345:exon18:c.1654-1G>A;ENST00000256832:exon17:c.1231-1G>A;ENST00000382850:exon17:c.1594-1G>A;ENST00000256830:exon15:c.1342-1G>A;ENST00000456986:exon18:c.1291-1G>A;ENST00000357895:exon18:c.1630-1G>A;ENST00000435432:exon18:c.1231-1G>A;ENST00000586263:exon17:c.1570-1G>A;ENST00000456173:exon16:c.1231-1G>A;ENST00000431212:exon17:c.1291-1G>A;ENST00000587881:exon7:c.646-1G>A)	.	.	0.999968021563937	0.914
18	56018222	G	C	18	58350990	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1654-1G>C;NM_001243960:exon16:c.1462-1G>C;NM_015277:exon17:c.1594-1G>C;NM_001144964:exon18:c.1291-1G>C;NM_001144968:exon18:c.1630-1G>C;NM_001144965:exon18:c.1291-1G>C;NM_001144971:exon18:c.1231-1G>C;NM_001144969:exon17:c.1570-1G>C;NM_001144970:exon16:c.1231-1G>C;NM_001144966:exon17:c.1291-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1462-1G>C;ENST00000400345:exon18:c.1654-1G>C;ENST00000256832:exon17:c.1231-1G>C;ENST00000382850:exon17:c.1594-1G>C;ENST00000256830:exon15:c.1342-1G>C;ENST00000456986:exon18:c.1291-1G>C;ENST00000357895:exon18:c.1630-1G>C;ENST00000435432:exon18:c.1231-1G>C;ENST00000586263:exon17:c.1570-1G>C;ENST00000456173:exon16:c.1231-1G>C;ENST00000431212:exon17:c.1291-1G>C;ENST00000587881:exon7:c.646-1G>C)	.	.	0.999968021563937	0.914
18	56018222	G	T	18	58350990	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1654-1G>T;NM_001243960:exon16:c.1462-1G>T;NM_015277:exon17:c.1594-1G>T;NM_001144964:exon18:c.1291-1G>T;NM_001144968:exon18:c.1630-1G>T;NM_001144965:exon18:c.1291-1G>T;NM_001144971:exon18:c.1231-1G>T;NM_001144969:exon17:c.1570-1G>T;NM_001144970:exon16:c.1231-1G>T;NM_001144966:exon17:c.1291-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1462-1G>T;ENST00000400345:exon18:c.1654-1G>T;ENST00000256832:exon17:c.1231-1G>T;ENST00000382850:exon17:c.1594-1G>T;ENST00000256830:exon15:c.1342-1G>T;ENST00000456986:exon18:c.1291-1G>T;ENST00000357895:exon18:c.1630-1G>T;ENST00000435432:exon18:c.1231-1G>T;ENST00000586263:exon17:c.1570-1G>T;ENST00000456173:exon16:c.1231-1G>T;ENST00000431212:exon17:c.1291-1G>T;ENST00000587881:exon7:c.646-1G>T)	.	.	0.999968021563937	0.914
18	56018223	C	A	18	58350991	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.C1570A:p.P524T;NEDD4L:NM_001144964:exon18:c.C1291A:p.P431T;NEDD4L:NM_015277:exon17:c.C1594A:p.P532T;NEDD4L:NM_001144967:exon18:c.C1654A:p.P552T;NEDD4L:NM_001144971:exon18:c.C1231A:p.P411T;NEDD4L:NM_001144968:exon18:c.C1630A:p.P544T;NEDD4L:NM_001144970:exon16:c.C1231A:p.P411T;NEDD4L:NM_001144965:exon18:c.C1291A:p.P431T;NEDD4L:NM_001144966:exon17:c.C1291A:p.P431T;NEDD4L:NM_001243960:exon16:c.C1462A:p.P488T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.C646A:p.P216T;ENSG00000049759:ENST00000435432:exon18:c.C1231A:p.P411T;ENSG00000049759:ENST00000382850:exon17:c.C1594A:p.P532T;ENSG00000049759:ENST00000456986:exon18:c.C1291A:p.P431T;ENSG00000049759:ENST00000256830:exon15:c.C1342A:p.P448T;ENSG00000049759:ENST00000456173:exon16:c.C1231A:p.P411T;ENSG00000049759:ENST00000357895:exon18:c.C1630A:p.P544T;ENSG00000049759:ENST00000256832:exon17:c.C1231A:p.P411T;ENSG00000049759:ENST00000431212:exon17:c.C1291A:p.P431T;ENSG00000049759:ENST00000356462:exon16:c.C1462A:p.P488T;ENSG00000049759:ENST00000400345:exon18:c.C1654A:p.P552T;ENSG00000049759:ENST00000586263:exon17:c.C1570A:p.P524T;	0.944758247592731	0.788
18	56018223	C	G	18	58350991	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.C1570G:p.P524A;NEDD4L:NM_001144964:exon18:c.C1291G:p.P431A;NEDD4L:NM_015277:exon17:c.C1594G:p.P532A;NEDD4L:NM_001144967:exon18:c.C1654G:p.P552A;NEDD4L:NM_001144971:exon18:c.C1231G:p.P411A;NEDD4L:NM_001144968:exon18:c.C1630G:p.P544A;NEDD4L:NM_001144970:exon16:c.C1231G:p.P411A;NEDD4L:NM_001144965:exon18:c.C1291G:p.P431A;NEDD4L:NM_001144966:exon17:c.C1291G:p.P431A;NEDD4L:NM_001243960:exon16:c.C1462G:p.P488A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.C646G:p.P216A;ENSG00000049759:ENST00000435432:exon18:c.C1231G:p.P411A;ENSG00000049759:ENST00000382850:exon17:c.C1594G:p.P532A;ENSG00000049759:ENST00000456986:exon18:c.C1291G:p.P431A;ENSG00000049759:ENST00000256830:exon15:c.C1342G:p.P448A;ENSG00000049759:ENST00000456173:exon16:c.C1231G:p.P411A;ENSG00000049759:ENST00000357895:exon18:c.C1630G:p.P544A;ENSG00000049759:ENST00000256832:exon17:c.C1231G:p.P411A;ENSG00000049759:ENST00000431212:exon17:c.C1291G:p.P431A;ENSG00000049759:ENST00000356462:exon16:c.C1462G:p.P488A;ENSG00000049759:ENST00000400345:exon18:c.C1654G:p.P552A;ENSG00000049759:ENST00000586263:exon17:c.C1570G:p.P524A;	0.960129199585663	0.756
18	56018223	C	T	18	58350991	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.C1570T:p.P524S;NEDD4L:NM_001144964:exon18:c.C1291T:p.P431S;NEDD4L:NM_015277:exon17:c.C1594T:p.P532S;NEDD4L:NM_001144967:exon18:c.C1654T:p.P552S;NEDD4L:NM_001144971:exon18:c.C1231T:p.P411S;NEDD4L:NM_001144968:exon18:c.C1630T:p.P544S;NEDD4L:NM_001144970:exon16:c.C1231T:p.P411S;NEDD4L:NM_001144965:exon18:c.C1291T:p.P431S;NEDD4L:NM_001144966:exon17:c.C1291T:p.P431S;NEDD4L:NM_001243960:exon16:c.C1462T:p.P488S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.C646T:p.P216S;ENSG00000049759:ENST00000435432:exon18:c.C1231T:p.P411S;ENSG00000049759:ENST00000382850:exon17:c.C1594T:p.P532S;ENSG00000049759:ENST00000456986:exon18:c.C1291T:p.P431S;ENSG00000049759:ENST00000256830:exon15:c.C1342T:p.P448S;ENSG00000049759:ENST00000456173:exon16:c.C1231T:p.P411S;ENSG00000049759:ENST00000357895:exon18:c.C1630T:p.P544S;ENSG00000049759:ENST00000256832:exon17:c.C1231T:p.P411S;ENSG00000049759:ENST00000431212:exon17:c.C1291T:p.P431S;ENSG00000049759:ENST00000356462:exon16:c.C1462T:p.P488S;ENSG00000049759:ENST00000400345:exon18:c.C1654T:p.P552S;ENSG00000049759:ENST00000586263:exon17:c.C1570T:p.P524S;	0.960851308341549	0.734
18	56018224	C	A	18	58350992	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.C1571A:p.P524H;NEDD4L:NM_001144964:exon18:c.C1292A:p.P431H;NEDD4L:NM_015277:exon17:c.C1595A:p.P532H;NEDD4L:NM_001144967:exon18:c.C1655A:p.P552H;NEDD4L:NM_001144971:exon18:c.C1232A:p.P411H;NEDD4L:NM_001144968:exon18:c.C1631A:p.P544H;NEDD4L:NM_001144970:exon16:c.C1232A:p.P411H;NEDD4L:NM_001144965:exon18:c.C1292A:p.P431H;NEDD4L:NM_001144966:exon17:c.C1292A:p.P431H;NEDD4L:NM_001243960:exon16:c.C1463A:p.P488H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.C647A:p.P216H;ENSG00000049759:ENST00000435432:exon18:c.C1232A:p.P411H;ENSG00000049759:ENST00000382850:exon17:c.C1595A:p.P532H;ENSG00000049759:ENST00000456986:exon18:c.C1292A:p.P431H;ENSG00000049759:ENST00000256830:exon15:c.C1343A:p.P448H;ENSG00000049759:ENST00000456173:exon16:c.C1232A:p.P411H;ENSG00000049759:ENST00000357895:exon18:c.C1631A:p.P544H;ENSG00000049759:ENST00000256832:exon17:c.C1232A:p.P411H;ENSG00000049759:ENST00000431212:exon17:c.C1292A:p.P431H;ENSG00000049759:ENST00000356462:exon16:c.C1463A:p.P488H;ENSG00000049759:ENST00000400345:exon18:c.C1655A:p.P552H;ENSG00000049759:ENST00000586263:exon17:c.C1571A:p.P524H;	0.976098599526944	0.752
18	56018224	C	G	18	58350992	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.C1571G:p.P524R;NEDD4L:NM_001144964:exon18:c.C1292G:p.P431R;NEDD4L:NM_015277:exon17:c.C1595G:p.P532R;NEDD4L:NM_001144967:exon18:c.C1655G:p.P552R;NEDD4L:NM_001144971:exon18:c.C1232G:p.P411R;NEDD4L:NM_001144968:exon18:c.C1631G:p.P544R;NEDD4L:NM_001144970:exon16:c.C1232G:p.P411R;NEDD4L:NM_001144965:exon18:c.C1292G:p.P431R;NEDD4L:NM_001144966:exon17:c.C1292G:p.P431R;NEDD4L:NM_001243960:exon16:c.C1463G:p.P488R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.C647G:p.P216R;ENSG00000049759:ENST00000435432:exon18:c.C1232G:p.P411R;ENSG00000049759:ENST00000382850:exon17:c.C1595G:p.P532R;ENSG00000049759:ENST00000456986:exon18:c.C1292G:p.P431R;ENSG00000049759:ENST00000256830:exon15:c.C1343G:p.P448R;ENSG00000049759:ENST00000456173:exon16:c.C1232G:p.P411R;ENSG00000049759:ENST00000357895:exon18:c.C1631G:p.P544R;ENSG00000049759:ENST00000256832:exon17:c.C1232G:p.P411R;ENSG00000049759:ENST00000431212:exon17:c.C1292G:p.P431R;ENSG00000049759:ENST00000356462:exon16:c.C1463G:p.P488R;ENSG00000049759:ENST00000400345:exon18:c.C1655G:p.P552R;ENSG00000049759:ENST00000586263:exon17:c.C1571G:p.P524R;	0.948022630988155	0.736
18	56018224	C	T	18	58350992	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.C1571T:p.P524L;NEDD4L:NM_001144964:exon18:c.C1292T:p.P431L;NEDD4L:NM_015277:exon17:c.C1595T:p.P532L;NEDD4L:NM_001144967:exon18:c.C1655T:p.P552L;NEDD4L:NM_001144971:exon18:c.C1232T:p.P411L;NEDD4L:NM_001144968:exon18:c.C1631T:p.P544L;NEDD4L:NM_001144970:exon16:c.C1232T:p.P411L;NEDD4L:NM_001144965:exon18:c.C1292T:p.P431L;NEDD4L:NM_001144966:exon17:c.C1292T:p.P431L;NEDD4L:NM_001243960:exon16:c.C1463T:p.P488L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.C647T:p.P216L;ENSG00000049759:ENST00000435432:exon18:c.C1232T:p.P411L;ENSG00000049759:ENST00000382850:exon17:c.C1595T:p.P532L;ENSG00000049759:ENST00000456986:exon18:c.C1292T:p.P431L;ENSG00000049759:ENST00000256830:exon15:c.C1343T:p.P448L;ENSG00000049759:ENST00000456173:exon16:c.C1232T:p.P411L;ENSG00000049759:ENST00000357895:exon18:c.C1631T:p.P544L;ENSG00000049759:ENST00000256832:exon17:c.C1232T:p.P411L;ENSG00000049759:ENST00000431212:exon17:c.C1292T:p.P431L;ENSG00000049759:ENST00000356462:exon16:c.C1463T:p.P488L;ENSG00000049759:ENST00000400345:exon18:c.C1655T:p.P552L;ENSG00000049759:ENST00000586263:exon17:c.C1571T:p.P524L;	0.985816040602376	0.864
18	56018275	A	C	18	58351043	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.A1622C:p.H541P;NEDD4L:NM_001144964:exon18:c.A1343C:p.H448P;NEDD4L:NM_015277:exon17:c.A1646C:p.H549P;NEDD4L:NM_001144967:exon18:c.A1706C:p.H569P;NEDD4L:NM_001144971:exon18:c.A1283C:p.H428P;NEDD4L:NM_001144968:exon18:c.A1682C:p.H561P;NEDD4L:NM_001144970:exon16:c.A1283C:p.H428P;NEDD4L:NM_001144965:exon18:c.A1343C:p.H448P;NEDD4L:NM_001144966:exon17:c.A1343C:p.H448P;NEDD4L:NM_001243960:exon16:c.A1514C:p.H505P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.A698C:p.H233P;ENSG00000049759:ENST00000435432:exon18:c.A1283C:p.H428P;ENSG00000049759:ENST00000382850:exon17:c.A1646C:p.H549P;ENSG00000049759:ENST00000456986:exon18:c.A1343C:p.H448P;ENSG00000049759:ENST00000256830:exon15:c.A1394C:p.H465P;ENSG00000049759:ENST00000456173:exon16:c.A1283C:p.H428P;ENSG00000049759:ENST00000357895:exon18:c.A1682C:p.H561P;ENSG00000049759:ENST00000256832:exon17:c.A1283C:p.H428P;ENSG00000049759:ENST00000431212:exon17:c.A1343C:p.H448P;ENSG00000049759:ENST00000356462:exon16:c.A1514C:p.H505P;ENSG00000049759:ENST00000400345:exon18:c.A1706C:p.H569P;ENSG00000049759:ENST00000586263:exon17:c.A1622C:p.H541P;	0.705855591852776	0.79
18	56018275	A	G	18	58351043	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.A1622G:p.H541R;NEDD4L:NM_001144964:exon18:c.A1343G:p.H448R;NEDD4L:NM_015277:exon17:c.A1646G:p.H549R;NEDD4L:NM_001144967:exon18:c.A1706G:p.H569R;NEDD4L:NM_001144971:exon18:c.A1283G:p.H428R;NEDD4L:NM_001144968:exon18:c.A1682G:p.H561R;NEDD4L:NM_001144970:exon16:c.A1283G:p.H428R;NEDD4L:NM_001144965:exon18:c.A1343G:p.H448R;NEDD4L:NM_001144966:exon17:c.A1343G:p.H448R;NEDD4L:NM_001243960:exon16:c.A1514G:p.H505R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.A698G:p.H233R;ENSG00000049759:ENST00000435432:exon18:c.A1283G:p.H428R;ENSG00000049759:ENST00000382850:exon17:c.A1646G:p.H549R;ENSG00000049759:ENST00000456986:exon18:c.A1343G:p.H448R;ENSG00000049759:ENST00000256830:exon15:c.A1394G:p.H465R;ENSG00000049759:ENST00000456173:exon16:c.A1283G:p.H428R;ENSG00000049759:ENST00000357895:exon18:c.A1682G:p.H561R;ENSG00000049759:ENST00000256832:exon17:c.A1283G:p.H428R;ENSG00000049759:ENST00000431212:exon17:c.A1343G:p.H448R;ENSG00000049759:ENST00000356462:exon16:c.A1514G:p.H505R;ENSG00000049759:ENST00000400345:exon18:c.A1706G:p.H569R;ENSG00000049759:ENST00000586263:exon17:c.A1622G:p.H541R;	0.584763964375608	0.568
18	56018275	A	T	18	58351043	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.A1622T:p.H541L;NEDD4L:NM_001144964:exon18:c.A1343T:p.H448L;NEDD4L:NM_015277:exon17:c.A1646T:p.H549L;NEDD4L:NM_001144967:exon18:c.A1706T:p.H569L;NEDD4L:NM_001144971:exon18:c.A1283T:p.H428L;NEDD4L:NM_001144968:exon18:c.A1682T:p.H561L;NEDD4L:NM_001144970:exon16:c.A1283T:p.H428L;NEDD4L:NM_001144965:exon18:c.A1343T:p.H448L;NEDD4L:NM_001144966:exon17:c.A1343T:p.H448L;NEDD4L:NM_001243960:exon16:c.A1514T:p.H505L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.A698T:p.H233L;ENSG00000049759:ENST00000435432:exon18:c.A1283T:p.H428L;ENSG00000049759:ENST00000382850:exon17:c.A1646T:p.H549L;ENSG00000049759:ENST00000456986:exon18:c.A1343T:p.H448L;ENSG00000049759:ENST00000256830:exon15:c.A1394T:p.H465L;ENSG00000049759:ENST00000456173:exon16:c.A1283T:p.H428L;ENSG00000049759:ENST00000357895:exon18:c.A1682T:p.H561L;ENSG00000049759:ENST00000256832:exon17:c.A1283T:p.H428L;ENSG00000049759:ENST00000431212:exon17:c.A1343T:p.H448L;ENSG00000049759:ENST00000356462:exon16:c.A1514T:p.H505L;ENSG00000049759:ENST00000400345:exon18:c.A1706T:p.H569L;ENSG00000049759:ENST00000586263:exon17:c.A1622T:p.H541L;	0.939782740434492	0.644
18	56018276	T	A	18	58351044	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.T1623A:p.H541Q;NEDD4L:NM_001144964:exon18:c.T1344A:p.H448Q;NEDD4L:NM_015277:exon17:c.T1647A:p.H549Q;NEDD4L:NM_001144967:exon18:c.T1707A:p.H569Q;NEDD4L:NM_001144971:exon18:c.T1284A:p.H428Q;NEDD4L:NM_001144968:exon18:c.T1683A:p.H561Q;NEDD4L:NM_001144970:exon16:c.T1284A:p.H428Q;NEDD4L:NM_001144965:exon18:c.T1344A:p.H448Q;NEDD4L:NM_001144966:exon17:c.T1344A:p.H448Q;NEDD4L:NM_001243960:exon16:c.T1515A:p.H505Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.T699A:p.H233Q;ENSG00000049759:ENST00000435432:exon18:c.T1284A:p.H428Q;ENSG00000049759:ENST00000382850:exon17:c.T1647A:p.H549Q;ENSG00000049759:ENST00000456986:exon18:c.T1344A:p.H448Q;ENSG00000049759:ENST00000256830:exon15:c.T1395A:p.H465Q;ENSG00000049759:ENST00000456173:exon16:c.T1284A:p.H428Q;ENSG00000049759:ENST00000357895:exon18:c.T1683A:p.H561Q;ENSG00000049759:ENST00000256832:exon17:c.T1284A:p.H428Q;ENSG00000049759:ENST00000431212:exon17:c.T1344A:p.H448Q;ENSG00000049759:ENST00000356462:exon16:c.T1515A:p.H505Q;ENSG00000049759:ENST00000400345:exon18:c.T1707A:p.H569Q;ENSG00000049759:ENST00000586263:exon17:c.T1623A:p.H541Q;	1.04370138557283E-4	0.264
18	56018276	T	C	18	58351044	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon17:c.T1623C:p.H541H;NEDD4L:NM_001144964:exon18:c.T1344C:p.H448H;NEDD4L:NM_015277:exon17:c.T1647C:p.H549H;NEDD4L:NM_001144967:exon18:c.T1707C:p.H569H;NEDD4L:NM_001144971:exon18:c.T1284C:p.H428H;NEDD4L:NM_001144968:exon18:c.T1683C:p.H561H;NEDD4L:NM_001144970:exon16:c.T1284C:p.H428H;NEDD4L:NM_001144965:exon18:c.T1344C:p.H448H;NEDD4L:NM_001144966:exon17:c.T1344C:p.H448H;NEDD4L:NM_001243960:exon16:c.T1515C:p.H505H;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.T699C:p.H233H;ENSG00000049759:ENST00000435432:exon18:c.T1284C:p.H428H;ENSG00000049759:ENST00000382850:exon17:c.T1647C:p.H549H;ENSG00000049759:ENST00000456986:exon18:c.T1344C:p.H448H;ENSG00000049759:ENST00000256830:exon15:c.T1395C:p.H465H;ENSG00000049759:ENST00000456173:exon16:c.T1284C:p.H428H;ENSG00000049759:ENST00000357895:exon18:c.T1683C:p.H561H;ENSG00000049759:ENST00000256832:exon17:c.T1284C:p.H428H;ENSG00000049759:ENST00000431212:exon17:c.T1344C:p.H448H;ENSG00000049759:ENST00000356462:exon16:c.T1515C:p.H505H;ENSG00000049759:ENST00000400345:exon18:c.T1707C:p.H569H;ENSG00000049759:ENST00000586263:exon17:c.T1623C:p.H541H;	8.45330407525875E-5	0.0
18	56018276	T	G	18	58351044	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.T1623G:p.H541Q;NEDD4L:NM_001144964:exon18:c.T1344G:p.H448Q;NEDD4L:NM_015277:exon17:c.T1647G:p.H549Q;NEDD4L:NM_001144967:exon18:c.T1707G:p.H569Q;NEDD4L:NM_001144971:exon18:c.T1284G:p.H428Q;NEDD4L:NM_001144968:exon18:c.T1683G:p.H561Q;NEDD4L:NM_001144970:exon16:c.T1284G:p.H428Q;NEDD4L:NM_001144965:exon18:c.T1344G:p.H448Q;NEDD4L:NM_001144966:exon17:c.T1344G:p.H448Q;NEDD4L:NM_001243960:exon16:c.T1515G:p.H505Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.T699G:p.H233Q;ENSG00000049759:ENST00000435432:exon18:c.T1284G:p.H428Q;ENSG00000049759:ENST00000382850:exon17:c.T1647G:p.H549Q;ENSG00000049759:ENST00000456986:exon18:c.T1344G:p.H448Q;ENSG00000049759:ENST00000256830:exon15:c.T1395G:p.H465Q;ENSG00000049759:ENST00000456173:exon16:c.T1284G:p.H428Q;ENSG00000049759:ENST00000357895:exon18:c.T1683G:p.H561Q;ENSG00000049759:ENST00000256832:exon17:c.T1284G:p.H428Q;ENSG00000049759:ENST00000431212:exon17:c.T1344G:p.H448Q;ENSG00000049759:ENST00000356462:exon16:c.T1515G:p.H505Q;ENSG00000049759:ENST00000400345:exon18:c.T1707G:p.H569Q;ENSG00000049759:ENST00000586263:exon17:c.T1623G:p.H541Q;	2.07310130900795E-4	0.194
18	56018277	A	C	18	58351045	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.A1624C:p.N542H;NEDD4L:NM_001144964:exon18:c.A1345C:p.N449H;NEDD4L:NM_015277:exon17:c.A1648C:p.N550H;NEDD4L:NM_001144967:exon18:c.A1708C:p.N570H;NEDD4L:NM_001144971:exon18:c.A1285C:p.N429H;NEDD4L:NM_001144968:exon18:c.A1684C:p.N562H;NEDD4L:NM_001144970:exon16:c.A1285C:p.N429H;NEDD4L:NM_001144965:exon18:c.A1345C:p.N449H;NEDD4L:NM_001144966:exon17:c.A1345C:p.N449H;NEDD4L:NM_001243960:exon16:c.A1516C:p.N506H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.A700C:p.N234H;ENSG00000049759:ENST00000435432:exon18:c.A1285C:p.N429H;ENSG00000049759:ENST00000382850:exon17:c.A1648C:p.N550H;ENSG00000049759:ENST00000456986:exon18:c.A1345C:p.N449H;ENSG00000049759:ENST00000256830:exon15:c.A1396C:p.N466H;ENSG00000049759:ENST00000456173:exon16:c.A1285C:p.N429H;ENSG00000049759:ENST00000357895:exon18:c.A1684C:p.N562H;ENSG00000049759:ENST00000256832:exon17:c.A1285C:p.N429H;ENSG00000049759:ENST00000431212:exon17:c.A1345C:p.N449H;ENSG00000049759:ENST00000356462:exon16:c.A1516C:p.N506H;ENSG00000049759:ENST00000400345:exon18:c.A1708C:p.N570H;ENSG00000049759:ENST00000586263:exon17:c.A1624C:p.N542H;	0.327502403816048	0.666
18	56018277	A	G	18	58351045	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.A1624G:p.N542D;NEDD4L:NM_001144964:exon18:c.A1345G:p.N449D;NEDD4L:NM_015277:exon17:c.A1648G:p.N550D;NEDD4L:NM_001144967:exon18:c.A1708G:p.N570D;NEDD4L:NM_001144971:exon18:c.A1285G:p.N429D;NEDD4L:NM_001144968:exon18:c.A1684G:p.N562D;NEDD4L:NM_001144970:exon16:c.A1285G:p.N429D;NEDD4L:NM_001144965:exon18:c.A1345G:p.N449D;NEDD4L:NM_001144966:exon17:c.A1345G:p.N449D;NEDD4L:NM_001243960:exon16:c.A1516G:p.N506D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.A700G:p.N234D;ENSG00000049759:ENST00000435432:exon18:c.A1285G:p.N429D;ENSG00000049759:ENST00000382850:exon17:c.A1648G:p.N550D;ENSG00000049759:ENST00000456986:exon18:c.A1345G:p.N449D;ENSG00000049759:ENST00000256830:exon15:c.A1396G:p.N466D;ENSG00000049759:ENST00000456173:exon16:c.A1285G:p.N429D;ENSG00000049759:ENST00000357895:exon18:c.A1684G:p.N562D;ENSG00000049759:ENST00000256832:exon17:c.A1285G:p.N429D;ENSG00000049759:ENST00000431212:exon17:c.A1345G:p.N449D;ENSG00000049759:ENST00000356462:exon16:c.A1516G:p.N506D;ENSG00000049759:ENST00000400345:exon18:c.A1708G:p.N570D;ENSG00000049759:ENST00000586263:exon17:c.A1624G:p.N542D;	0.343750947667662	0.314
18	56018277	A	T	18	58351045	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon17:c.A1624T:p.N542Y;NEDD4L:NM_001144964:exon18:c.A1345T:p.N449Y;NEDD4L:NM_015277:exon17:c.A1648T:p.N550Y;NEDD4L:NM_001144967:exon18:c.A1708T:p.N570Y;NEDD4L:NM_001144971:exon18:c.A1285T:p.N429Y;NEDD4L:NM_001144968:exon18:c.A1684T:p.N562Y;NEDD4L:NM_001144970:exon16:c.A1285T:p.N429Y;NEDD4L:NM_001144965:exon18:c.A1345T:p.N449Y;NEDD4L:NM_001144966:exon17:c.A1345T:p.N449Y;NEDD4L:NM_001243960:exon16:c.A1516T:p.N506Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon7:c.A700T:p.N234Y;ENSG00000049759:ENST00000435432:exon18:c.A1285T:p.N429Y;ENSG00000049759:ENST00000382850:exon17:c.A1648T:p.N550Y;ENSG00000049759:ENST00000456986:exon18:c.A1345T:p.N449Y;ENSG00000049759:ENST00000256830:exon15:c.A1396T:p.N466Y;ENSG00000049759:ENST00000456173:exon16:c.A1285T:p.N429Y;ENSG00000049759:ENST00000357895:exon18:c.A1684T:p.N562Y;ENSG00000049759:ENST00000256832:exon17:c.A1285T:p.N429Y;ENSG00000049759:ENST00000431212:exon17:c.A1345T:p.N449Y;ENSG00000049759:ENST00000356462:exon16:c.A1516T:p.N506Y;ENSG00000049759:ENST00000400345:exon18:c.A1708T:p.N570Y;ENSG00000049759:ENST00000586263:exon17:c.A1624T:p.N542Y;	0.696033385130664	0.682
18	56018278	G	A	18	58351046	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1708+1G>A;NM_001243960:exon16:c.1516+1G>A;NM_015277:exon17:c.1648+1G>A;NM_001144964:exon18:c.1345+1G>A;NM_001144968:exon18:c.1684+1G>A;NM_001144965:exon18:c.1345+1G>A;NM_001144971:exon18:c.1285+1G>A;NM_001144969:exon17:c.1624+1G>A;NM_001144970:exon16:c.1285+1G>A;NM_001144966:exon17:c.1345+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1516+1G>A;ENST00000400345:exon18:c.1708+1G>A;ENST00000256832:exon17:c.1285+1G>A;ENST00000382850:exon17:c.1648+1G>A;ENST00000256830:exon15:c.1396+1G>A;ENST00000456986:exon18:c.1345+1G>A;ENST00000357895:exon18:c.1684+1G>A;ENST00000435432:exon18:c.1285+1G>A;ENST00000586263:exon17:c.1624+1G>A;ENST00000456173:exon16:c.1285+1G>A;ENST00000431212:exon17:c.1345+1G>A;ENST00000587881:exon7:c.700+1G>A)	.	.	0.999985532734767	0.936
18	56018278	G	C	18	58351046	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1708+1G>C;NM_001243960:exon16:c.1516+1G>C;NM_015277:exon17:c.1648+1G>C;NM_001144964:exon18:c.1345+1G>C;NM_001144968:exon18:c.1684+1G>C;NM_001144965:exon18:c.1345+1G>C;NM_001144971:exon18:c.1285+1G>C;NM_001144969:exon17:c.1624+1G>C;NM_001144970:exon16:c.1285+1G>C;NM_001144966:exon17:c.1345+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1516+1G>C;ENST00000400345:exon18:c.1708+1G>C;ENST00000256832:exon17:c.1285+1G>C;ENST00000382850:exon17:c.1648+1G>C;ENST00000256830:exon15:c.1396+1G>C;ENST00000456986:exon18:c.1345+1G>C;ENST00000357895:exon18:c.1684+1G>C;ENST00000435432:exon18:c.1285+1G>C;ENST00000586263:exon17:c.1624+1G>C;ENST00000456173:exon16:c.1285+1G>C;ENST00000431212:exon17:c.1345+1G>C;ENST00000587881:exon7:c.700+1G>C)	.	.	0.999985532734767	0.936
18	56018278	G	T	18	58351046	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1708+1G>T;NM_001243960:exon16:c.1516+1G>T;NM_015277:exon17:c.1648+1G>T;NM_001144964:exon18:c.1345+1G>T;NM_001144968:exon18:c.1684+1G>T;NM_001144965:exon18:c.1345+1G>T;NM_001144971:exon18:c.1285+1G>T;NM_001144969:exon17:c.1624+1G>T;NM_001144970:exon16:c.1285+1G>T;NM_001144966:exon17:c.1345+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1516+1G>T;ENST00000400345:exon18:c.1708+1G>T;ENST00000256832:exon17:c.1285+1G>T;ENST00000382850:exon17:c.1648+1G>T;ENST00000256830:exon15:c.1396+1G>T;ENST00000456986:exon18:c.1345+1G>T;ENST00000357895:exon18:c.1684+1G>T;ENST00000435432:exon18:c.1285+1G>T;ENST00000586263:exon17:c.1624+1G>T;ENST00000456173:exon16:c.1285+1G>T;ENST00000431212:exon17:c.1345+1G>T;ENST00000587881:exon7:c.700+1G>T)	.	.	0.999985532734767	0.936
18	56018279	T	A	18	58351047	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1708+2T>A;NM_001243960:exon16:c.1516+2T>A;NM_015277:exon17:c.1648+2T>A;NM_001144964:exon18:c.1345+2T>A;NM_001144968:exon18:c.1684+2T>A;NM_001144965:exon18:c.1345+2T>A;NM_001144971:exon18:c.1285+2T>A;NM_001144969:exon17:c.1624+2T>A;NM_001144970:exon16:c.1285+2T>A;NM_001144966:exon17:c.1345+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1516+2T>A;ENST00000400345:exon18:c.1708+2T>A;ENST00000256832:exon17:c.1285+2T>A;ENST00000382850:exon17:c.1648+2T>A;ENST00000256830:exon15:c.1396+2T>A;ENST00000456986:exon18:c.1345+2T>A;ENST00000357895:exon18:c.1684+2T>A;ENST00000435432:exon18:c.1285+2T>A;ENST00000586263:exon17:c.1624+2T>A;ENST00000456173:exon16:c.1285+2T>A;ENST00000431212:exon17:c.1345+2T>A;ENST00000587881:exon7:c.700+2T>A)	.	.	0.999988247793601	0.928
18	56018279	T	C	18	58351047	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1708+2T>C;NM_001243960:exon16:c.1516+2T>C;NM_015277:exon17:c.1648+2T>C;NM_001144964:exon18:c.1345+2T>C;NM_001144968:exon18:c.1684+2T>C;NM_001144965:exon18:c.1345+2T>C;NM_001144971:exon18:c.1285+2T>C;NM_001144969:exon17:c.1624+2T>C;NM_001144970:exon16:c.1285+2T>C;NM_001144966:exon17:c.1345+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1516+2T>C;ENST00000400345:exon18:c.1708+2T>C;ENST00000256832:exon17:c.1285+2T>C;ENST00000382850:exon17:c.1648+2T>C;ENST00000256830:exon15:c.1396+2T>C;ENST00000456986:exon18:c.1345+2T>C;ENST00000357895:exon18:c.1684+2T>C;ENST00000435432:exon18:c.1285+2T>C;ENST00000586263:exon17:c.1624+2T>C;ENST00000456173:exon16:c.1285+2T>C;ENST00000431212:exon17:c.1345+2T>C;ENST00000587881:exon7:c.700+2T>C)	.	.	0.99340600729494	0.66
18	56018279	T	G	18	58351047	y	y	splicing	NEDD4L(NM_001144967:exon18:c.1708+2T>G;NM_001243960:exon16:c.1516+2T>G;NM_015277:exon17:c.1648+2T>G;NM_001144964:exon18:c.1345+2T>G;NM_001144968:exon18:c.1684+2T>G;NM_001144965:exon18:c.1345+2T>G;NM_001144971:exon18:c.1285+2T>G;NM_001144969:exon17:c.1624+2T>G;NM_001144970:exon16:c.1285+2T>G;NM_001144966:exon17:c.1345+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon16:c.1516+2T>G;ENST00000400345:exon18:c.1708+2T>G;ENST00000256832:exon17:c.1285+2T>G;ENST00000382850:exon17:c.1648+2T>G;ENST00000256830:exon15:c.1396+2T>G;ENST00000456986:exon18:c.1345+2T>G;ENST00000357895:exon18:c.1684+2T>G;ENST00000435432:exon18:c.1285+2T>G;ENST00000586263:exon17:c.1624+2T>G;ENST00000456173:exon16:c.1285+2T>G;ENST00000431212:exon17:c.1345+2T>G;ENST00000587881:exon7:c.700+2T>G)	.	.	0.999988247793601	0.928
18	56018280	A	C	18	58351048	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999757583542233	0.892
18	56018280	A	G	18	58351048	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.138669444994183	0.366
18	56018280	A	T	18	58351048	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999666606412945	0.934
18	56018281	A	C	18	58351049	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997592824772835	0.846
18	56018281	A	G	18	58351049	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996721763542113	0.99
18	56018281	A	T	18	58351049	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998801523339278	0.958
18	56018282	G	A	18	58351050	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999971857860921	0.994
18	56018282	G	C	18	58351050	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999966160629746	0.96
18	56018282	G	T	18	58351050	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999966160629746	0.988
18	56018283	T	A	18	58351051	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.974852612449456	0.656
18	56018283	T	C	18	58351051	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.821458692550013	0.706
18	56018283	T	G	18	58351051	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.961303621485223	0.778
18	56018284	A	C	18	58351052	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.45772815369708E-5	0.0
18	56018284	A	G	18	58351052	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.45772815369708E-5	0.0
18	56018284	A	T	18	58351052	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.9233054561858E-5	0.0
18	56018285	G	A	18	58351053	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.99444208245176E-5	0.002
18	56018285	G	C	18	58351053	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.67480012310538E-4	0.006
18	56018285	G	T	18	58351053	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.67480012310538E-4	0.002
18	56024414	T	A	18	58357182	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0177952425225512	0.26
18	56024414	T	C	18	58357182	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.57092033225773E-5	0.014
18	56024414	T	G	18	58357182	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.12325093902972E-4	0.098
18	56024415	A	C	18	58357183	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.65766599304122E-5	0.006
18	56024415	A	G	18	58357183	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.86705766267701E-5	0.002
18	56024415	A	T	18	58357183	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.64341411746651E-4	0.108
18	56024416	A	C	18	58357184	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.15243705659109E-4	0.0
18	56024416	A	G	18	58357184	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999742881612691	0.992
18	56024416	A	T	18	58357184	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.04025597227352E-4	0.01
18	56024417	C	A	18	58357185	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.13074758352393E-4	0.118
18	56024417	C	G	18	58357185	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999657281486555	0.938
18	56024417	C	T	18	58357185	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.98245906576919E-5	0.008
18	56024418	A	C	18	58357186	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.62395973522085E-4	0.0
18	56024418	A	G	18	58357186	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.3042563874858E-4	0.0
18	56024418	A	T	18	58357186	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.62395973522085E-4	0.0
18	56024419	T	A	18	58357187	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0345891242804678	0.144
18	56024419	T	C	18	58357187	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.05455436157677E-4	0.012
18	56024419	T	G	18	58357187	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999828668433656	0.996
18	56024420	T	A	18	58357188	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.955738651179469	0.73
18	56024420	T	C	18	58357188	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0045030945239214	0.09
18	56024420	T	G	18	58357188	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.944411722939708	0.682
18	56024421	T	A	18	58357189	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.968577165772241	0.782
18	56024421	T	C	18	58357189	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.28571839640763	0.21
18	56024421	T	G	18	58357189	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.993081250470945	0.748
18	56024422	T	A	18	58357190	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00195972868646254	0.052
18	56024422	T	C	18	58357190	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.90415387692854E-4	0.016
18	56024422	T	G	18	58357190	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.65480581687957E-4	0.01
18	56024423	C	A	18	58357191	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.961024015322498	0.814
18	56024423	C	G	18	58357191	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999922290250695	0.89
18	56024423	C	T	18	58357191	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0256942776535818	0.04
18	56024424	A	C	18	58357192	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1709-2A>C;NM_001243960:exon17:c.1517-2A>C;NM_015277:exon18:c.1649-2A>C;NM_001144964:exon19:c.1346-2A>C;NM_001144968:exon19:c.1685-2A>C;NM_001144965:exon19:c.1346-2A>C;NM_001144971:exon19:c.1286-2A>C;NM_001144969:exon18:c.1625-2A>C;NM_001144970:exon17:c.1286-2A>C;NM_001144966:exon18:c.1346-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1517-2A>C;ENST00000400345:exon19:c.1709-2A>C;ENST00000256832:exon18:c.1286-2A>C;ENST00000382850:exon18:c.1649-2A>C;ENST00000256830:exon16:c.1397-2A>C;ENST00000456986:exon19:c.1346-2A>C;ENST00000357895:exon19:c.1685-2A>C;ENST00000435432:exon19:c.1286-2A>C;ENST00000586263:exon18:c.1625-2A>C;ENST00000456173:exon17:c.1286-2A>C;ENST00000431212:exon18:c.1346-2A>C;ENST00000587881:exon8:c.701-2A>C)	.	.	0.999989917668626	0.928
18	56024424	A	G	18	58357192	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1709-2A>G;NM_001243960:exon17:c.1517-2A>G;NM_015277:exon18:c.1649-2A>G;NM_001144964:exon19:c.1346-2A>G;NM_001144968:exon19:c.1685-2A>G;NM_001144965:exon19:c.1346-2A>G;NM_001144971:exon19:c.1286-2A>G;NM_001144969:exon18:c.1625-2A>G;NM_001144970:exon17:c.1286-2A>G;NM_001144966:exon18:c.1346-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1517-2A>G;ENST00000400345:exon19:c.1709-2A>G;ENST00000256832:exon18:c.1286-2A>G;ENST00000382850:exon18:c.1649-2A>G;ENST00000256830:exon16:c.1397-2A>G;ENST00000456986:exon19:c.1346-2A>G;ENST00000357895:exon19:c.1685-2A>G;ENST00000435432:exon19:c.1286-2A>G;ENST00000586263:exon18:c.1625-2A>G;ENST00000456173:exon17:c.1286-2A>G;ENST00000431212:exon18:c.1346-2A>G;ENST00000587881:exon8:c.701-2A>G)	.	.	0.999989917668626	0.928
18	56024424	A	T	18	58357192	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1709-2A>T;NM_001243960:exon17:c.1517-2A>T;NM_015277:exon18:c.1649-2A>T;NM_001144964:exon19:c.1346-2A>T;NM_001144968:exon19:c.1685-2A>T;NM_001144965:exon19:c.1346-2A>T;NM_001144971:exon19:c.1286-2A>T;NM_001144969:exon18:c.1625-2A>T;NM_001144970:exon17:c.1286-2A>T;NM_001144966:exon18:c.1346-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1517-2A>T;ENST00000400345:exon19:c.1709-2A>T;ENST00000256832:exon18:c.1286-2A>T;ENST00000382850:exon18:c.1649-2A>T;ENST00000256830:exon16:c.1397-2A>T;ENST00000456986:exon19:c.1346-2A>T;ENST00000357895:exon19:c.1685-2A>T;ENST00000435432:exon19:c.1286-2A>T;ENST00000586263:exon18:c.1625-2A>T;ENST00000456173:exon17:c.1286-2A>T;ENST00000431212:exon18:c.1346-2A>T;ENST00000587881:exon8:c.701-2A>T)	.	.	0.999989917668626	0.928
18	56024425	G	A	18	58357193	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1709-1G>A;NM_001243960:exon17:c.1517-1G>A;NM_015277:exon18:c.1649-1G>A;NM_001144964:exon19:c.1346-1G>A;NM_001144968:exon19:c.1685-1G>A;NM_001144965:exon19:c.1346-1G>A;NM_001144971:exon19:c.1286-1G>A;NM_001144969:exon18:c.1625-1G>A;NM_001144970:exon17:c.1286-1G>A;NM_001144966:exon18:c.1346-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1517-1G>A;ENST00000400345:exon19:c.1709-1G>A;ENST00000256832:exon18:c.1286-1G>A;ENST00000382850:exon18:c.1649-1G>A;ENST00000256830:exon16:c.1397-1G>A;ENST00000456986:exon19:c.1346-1G>A;ENST00000357895:exon19:c.1685-1G>A;ENST00000435432:exon19:c.1286-1G>A;ENST00000586263:exon18:c.1625-1G>A;ENST00000456173:exon17:c.1286-1G>A;ENST00000431212:exon18:c.1346-1G>A;ENST00000587881:exon8:c.701-1G>A)	.	.	0.999986675681007	0.94
18	56024425	G	C	18	58357193	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1709-1G>C;NM_001243960:exon17:c.1517-1G>C;NM_015277:exon18:c.1649-1G>C;NM_001144964:exon19:c.1346-1G>C;NM_001144968:exon19:c.1685-1G>C;NM_001144965:exon19:c.1346-1G>C;NM_001144971:exon19:c.1286-1G>C;NM_001144969:exon18:c.1625-1G>C;NM_001144970:exon17:c.1286-1G>C;NM_001144966:exon18:c.1346-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1517-1G>C;ENST00000400345:exon19:c.1709-1G>C;ENST00000256832:exon18:c.1286-1G>C;ENST00000382850:exon18:c.1649-1G>C;ENST00000256830:exon16:c.1397-1G>C;ENST00000456986:exon19:c.1346-1G>C;ENST00000357895:exon19:c.1685-1G>C;ENST00000435432:exon19:c.1286-1G>C;ENST00000586263:exon18:c.1625-1G>C;ENST00000456173:exon17:c.1286-1G>C;ENST00000431212:exon18:c.1346-1G>C;ENST00000587881:exon8:c.701-1G>C)	.	.	0.999986675681007	0.94
18	56024425	G	T	18	58357193	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1709-1G>T;NM_001243960:exon17:c.1517-1G>T;NM_015277:exon18:c.1649-1G>T;NM_001144964:exon19:c.1346-1G>T;NM_001144968:exon19:c.1685-1G>T;NM_001144965:exon19:c.1346-1G>T;NM_001144971:exon19:c.1286-1G>T;NM_001144969:exon18:c.1625-1G>T;NM_001144970:exon17:c.1286-1G>T;NM_001144966:exon18:c.1346-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1517-1G>T;ENST00000400345:exon19:c.1709-1G>T;ENST00000256832:exon18:c.1286-1G>T;ENST00000382850:exon18:c.1649-1G>T;ENST00000256830:exon16:c.1397-1G>T;ENST00000456986:exon19:c.1346-1G>T;ENST00000357895:exon19:c.1685-1G>T;ENST00000435432:exon19:c.1286-1G>T;ENST00000586263:exon18:c.1625-1G>T;ENST00000456173:exon17:c.1286-1G>T;ENST00000431212:exon18:c.1346-1G>T;ENST00000587881:exon8:c.701-1G>T)	.	.	0.999986675681007	0.94
18	56024426	A	C	18	58357194	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.A1625C:p.N542T;NEDD4L:NM_001144964:exon19:c.A1346C:p.N449T;NEDD4L:NM_015277:exon18:c.A1649C:p.N550T;NEDD4L:NM_001144967:exon19:c.A1709C:p.N570T;NEDD4L:NM_001144971:exon19:c.A1286C:p.N429T;NEDD4L:NM_001144968:exon19:c.A1685C:p.N562T;NEDD4L:NM_001144970:exon17:c.A1286C:p.N429T;NEDD4L:NM_001144965:exon19:c.A1346C:p.N449T;NEDD4L:NM_001144966:exon18:c.A1346C:p.N449T;NEDD4L:NM_001243960:exon17:c.A1517C:p.N506T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.A701C:p.N234T;ENSG00000049759:ENST00000435432:exon19:c.A1286C:p.N429T;ENSG00000049759:ENST00000382850:exon18:c.A1649C:p.N550T;ENSG00000049759:ENST00000456986:exon19:c.A1346C:p.N449T;ENSG00000049759:ENST00000256830:exon16:c.A1397C:p.N466T;ENSG00000049759:ENST00000456173:exon17:c.A1286C:p.N429T;ENSG00000049759:ENST00000357895:exon19:c.A1685C:p.N562T;ENSG00000049759:ENST00000256832:exon18:c.A1286C:p.N429T;ENSG00000049759:ENST00000431212:exon18:c.A1346C:p.N449T;ENSG00000049759:ENST00000356462:exon17:c.A1517C:p.N506T;ENSG00000049759:ENST00000400345:exon19:c.A1709C:p.N570T;ENSG00000049759:ENST00000586263:exon18:c.A1625C:p.N542T;	0.264367249665258	0.6
18	56024426	A	G	18	58357194	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.A1625G:p.N542S;NEDD4L:NM_001144964:exon19:c.A1346G:p.N449S;NEDD4L:NM_015277:exon18:c.A1649G:p.N550S;NEDD4L:NM_001144967:exon19:c.A1709G:p.N570S;NEDD4L:NM_001144971:exon19:c.A1286G:p.N429S;NEDD4L:NM_001144968:exon19:c.A1685G:p.N562S;NEDD4L:NM_001144970:exon17:c.A1286G:p.N429S;NEDD4L:NM_001144965:exon19:c.A1346G:p.N449S;NEDD4L:NM_001144966:exon18:c.A1346G:p.N449S;NEDD4L:NM_001243960:exon17:c.A1517G:p.N506S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.A701G:p.N234S;ENSG00000049759:ENST00000435432:exon19:c.A1286G:p.N429S;ENSG00000049759:ENST00000382850:exon18:c.A1649G:p.N550S;ENSG00000049759:ENST00000456986:exon19:c.A1346G:p.N449S;ENSG00000049759:ENST00000256830:exon16:c.A1397G:p.N466S;ENSG00000049759:ENST00000456173:exon17:c.A1286G:p.N429S;ENSG00000049759:ENST00000357895:exon19:c.A1685G:p.N562S;ENSG00000049759:ENST00000256832:exon18:c.A1286G:p.N429S;ENSG00000049759:ENST00000431212:exon18:c.A1346G:p.N449S;ENSG00000049759:ENST00000356462:exon17:c.A1517G:p.N506S;ENSG00000049759:ENST00000400345:exon19:c.A1709G:p.N570S;ENSG00000049759:ENST00000586263:exon18:c.A1625G:p.N542S;	0.530369981292944	0.572
18	56024426	A	T	18	58357194	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.A1625T:p.N542I;NEDD4L:NM_001144964:exon19:c.A1346T:p.N449I;NEDD4L:NM_015277:exon18:c.A1649T:p.N550I;NEDD4L:NM_001144967:exon19:c.A1709T:p.N570I;NEDD4L:NM_001144971:exon19:c.A1286T:p.N429I;NEDD4L:NM_001144968:exon19:c.A1685T:p.N562I;NEDD4L:NM_001144970:exon17:c.A1286T:p.N429I;NEDD4L:NM_001144965:exon19:c.A1346T:p.N449I;NEDD4L:NM_001144966:exon18:c.A1346T:p.N449I;NEDD4L:NM_001243960:exon17:c.A1517T:p.N506I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.A701T:p.N234I;ENSG00000049759:ENST00000435432:exon19:c.A1286T:p.N429I;ENSG00000049759:ENST00000382850:exon18:c.A1649T:p.N550I;ENSG00000049759:ENST00000456986:exon19:c.A1346T:p.N449I;ENSG00000049759:ENST00000256830:exon16:c.A1397T:p.N466I;ENSG00000049759:ENST00000456173:exon17:c.A1286T:p.N429I;ENSG00000049759:ENST00000357895:exon19:c.A1685T:p.N562I;ENSG00000049759:ENST00000256832:exon18:c.A1286T:p.N429I;ENSG00000049759:ENST00000431212:exon18:c.A1346T:p.N449I;ENSG00000049759:ENST00000356462:exon17:c.A1517T:p.N506I;ENSG00000049759:ENST00000400345:exon19:c.A1709T:p.N570I;ENSG00000049759:ENST00000586263:exon18:c.A1625T:p.N542I;	0.306346303670585	0.51
18	56024427	T	A	18	58357195	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.T1626A:p.N542K;NEDD4L:NM_001144964:exon19:c.T1347A:p.N449K;NEDD4L:NM_015277:exon18:c.T1650A:p.N550K;NEDD4L:NM_001144967:exon19:c.T1710A:p.N570K;NEDD4L:NM_001144971:exon19:c.T1287A:p.N429K;NEDD4L:NM_001144968:exon19:c.T1686A:p.N562K;NEDD4L:NM_001144970:exon17:c.T1287A:p.N429K;NEDD4L:NM_001144965:exon19:c.T1347A:p.N449K;NEDD4L:NM_001144966:exon18:c.T1347A:p.N449K;NEDD4L:NM_001243960:exon17:c.T1518A:p.N506K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.T702A:p.N234K;ENSG00000049759:ENST00000435432:exon19:c.T1287A:p.N429K;ENSG00000049759:ENST00000382850:exon18:c.T1650A:p.N550K;ENSG00000049759:ENST00000456986:exon19:c.T1347A:p.N449K;ENSG00000049759:ENST00000256830:exon16:c.T1398A:p.N466K;ENSG00000049759:ENST00000456173:exon17:c.T1287A:p.N429K;ENSG00000049759:ENST00000357895:exon19:c.T1686A:p.N562K;ENSG00000049759:ENST00000256832:exon18:c.T1287A:p.N429K;ENSG00000049759:ENST00000431212:exon18:c.T1347A:p.N449K;ENSG00000049759:ENST00000356462:exon17:c.T1518A:p.N506K;ENSG00000049759:ENST00000400345:exon19:c.T1710A:p.N570K;ENSG00000049759:ENST00000586263:exon18:c.T1626A:p.N542K;	4.67820994085495E-5	0.154
18	56024427	T	C	18	58357195	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon18:c.T1626C:p.N542N;NEDD4L:NM_001144964:exon19:c.T1347C:p.N449N;NEDD4L:NM_015277:exon18:c.T1650C:p.N550N;NEDD4L:NM_001144967:exon19:c.T1710C:p.N570N;NEDD4L:NM_001144971:exon19:c.T1287C:p.N429N;NEDD4L:NM_001144968:exon19:c.T1686C:p.N562N;NEDD4L:NM_001144970:exon17:c.T1287C:p.N429N;NEDD4L:NM_001144965:exon19:c.T1347C:p.N449N;NEDD4L:NM_001144966:exon18:c.T1347C:p.N449N;NEDD4L:NM_001243960:exon17:c.T1518C:p.N506N;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.T702C:p.N234N;ENSG00000049759:ENST00000435432:exon19:c.T1287C:p.N429N;ENSG00000049759:ENST00000382850:exon18:c.T1650C:p.N550N;ENSG00000049759:ENST00000456986:exon19:c.T1347C:p.N449N;ENSG00000049759:ENST00000256830:exon16:c.T1398C:p.N466N;ENSG00000049759:ENST00000456173:exon17:c.T1287C:p.N429N;ENSG00000049759:ENST00000357895:exon19:c.T1686C:p.N562N;ENSG00000049759:ENST00000256832:exon18:c.T1287C:p.N429N;ENSG00000049759:ENST00000431212:exon18:c.T1347C:p.N449N;ENSG00000049759:ENST00000356462:exon17:c.T1518C:p.N506N;ENSG00000049759:ENST00000400345:exon19:c.T1710C:p.N570N;ENSG00000049759:ENST00000586263:exon18:c.T1626C:p.N542N;	4.52979785769511E-4	0.028
18	56024427	T	G	18	58357195	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.T1626G:p.N542K;NEDD4L:NM_001144964:exon19:c.T1347G:p.N449K;NEDD4L:NM_015277:exon18:c.T1650G:p.N550K;NEDD4L:NM_001144967:exon19:c.T1710G:p.N570K;NEDD4L:NM_001144971:exon19:c.T1287G:p.N429K;NEDD4L:NM_001144968:exon19:c.T1686G:p.N562K;NEDD4L:NM_001144970:exon17:c.T1287G:p.N429K;NEDD4L:NM_001144965:exon19:c.T1347G:p.N449K;NEDD4L:NM_001144966:exon18:c.T1347G:p.N449K;NEDD4L:NM_001243960:exon17:c.T1518G:p.N506K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.T702G:p.N234K;ENSG00000049759:ENST00000435432:exon19:c.T1287G:p.N429K;ENSG00000049759:ENST00000382850:exon18:c.T1650G:p.N550K;ENSG00000049759:ENST00000456986:exon19:c.T1347G:p.N449K;ENSG00000049759:ENST00000256830:exon16:c.T1398G:p.N466K;ENSG00000049759:ENST00000456173:exon17:c.T1287G:p.N429K;ENSG00000049759:ENST00000357895:exon19:c.T1686G:p.N562K;ENSG00000049759:ENST00000256832:exon18:c.T1287G:p.N429K;ENSG00000049759:ENST00000431212:exon18:c.T1347G:p.N449K;ENSG00000049759:ENST00000356462:exon17:c.T1518G:p.N506K;ENSG00000049759:ENST00000400345:exon19:c.T1710G:p.N570K;ENSG00000049759:ENST00000586263:exon18:c.T1626G:p.N542K;	4.44324321900059E-5	0.144
18	56024482	C	A	18	58357250	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.C1681A:p.P561T;NEDD4L:NM_001144964:exon19:c.C1402A:p.P468T;NEDD4L:NM_015277:exon18:c.C1705A:p.P569T;NEDD4L:NM_001144967:exon19:c.C1765A:p.P589T;NEDD4L:NM_001144971:exon19:c.C1342A:p.P448T;NEDD4L:NM_001144968:exon19:c.C1741A:p.P581T;NEDD4L:NM_001144970:exon17:c.C1342A:p.P448T;NEDD4L:NM_001144965:exon19:c.C1402A:p.P468T;NEDD4L:NM_001144966:exon18:c.C1402A:p.P468T;NEDD4L:NM_001243960:exon17:c.C1573A:p.P525T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.C757A:p.P253T;ENSG00000049759:ENST00000435432:exon19:c.C1342A:p.P448T;ENSG00000049759:ENST00000382850:exon18:c.C1705A:p.P569T;ENSG00000049759:ENST00000456986:exon19:c.C1402A:p.P468T;ENSG00000049759:ENST00000256830:exon16:c.C1453A:p.P485T;ENSG00000049759:ENST00000456173:exon17:c.C1342A:p.P448T;ENSG00000049759:ENST00000357895:exon19:c.C1741A:p.P581T;ENSG00000049759:ENST00000256832:exon18:c.C1342A:p.P448T;ENSG00000049759:ENST00000431212:exon18:c.C1402A:p.P468T;ENSG00000049759:ENST00000356462:exon17:c.C1573A:p.P525T;ENSG00000049759:ENST00000400345:exon19:c.C1765A:p.P589T;ENSG00000049759:ENST00000586263:exon18:c.C1681A:p.P561T;	0.91549278180668	0.8
18	56024482	C	G	18	58357250	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.C1681G:p.P561A;NEDD4L:NM_001144964:exon19:c.C1402G:p.P468A;NEDD4L:NM_015277:exon18:c.C1705G:p.P569A;NEDD4L:NM_001144967:exon19:c.C1765G:p.P589A;NEDD4L:NM_001144971:exon19:c.C1342G:p.P448A;NEDD4L:NM_001144968:exon19:c.C1741G:p.P581A;NEDD4L:NM_001144970:exon17:c.C1342G:p.P448A;NEDD4L:NM_001144965:exon19:c.C1402G:p.P468A;NEDD4L:NM_001144966:exon18:c.C1402G:p.P468A;NEDD4L:NM_001243960:exon17:c.C1573G:p.P525A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.C757G:p.P253A;ENSG00000049759:ENST00000435432:exon19:c.C1342G:p.P448A;ENSG00000049759:ENST00000382850:exon18:c.C1705G:p.P569A;ENSG00000049759:ENST00000456986:exon19:c.C1402G:p.P468A;ENSG00000049759:ENST00000256830:exon16:c.C1453G:p.P485A;ENSG00000049759:ENST00000456173:exon17:c.C1342G:p.P448A;ENSG00000049759:ENST00000357895:exon19:c.C1741G:p.P581A;ENSG00000049759:ENST00000256832:exon18:c.C1342G:p.P448A;ENSG00000049759:ENST00000431212:exon18:c.C1402G:p.P468A;ENSG00000049759:ENST00000356462:exon17:c.C1573G:p.P525A;ENSG00000049759:ENST00000400345:exon19:c.C1765G:p.P589A;ENSG00000049759:ENST00000586263:exon18:c.C1681G:p.P561A;	0.970323435466116	0.646
18	56024482	C	T	18	58357250	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.C1681T:p.P561S;NEDD4L:NM_001144964:exon19:c.C1402T:p.P468S;NEDD4L:NM_015277:exon18:c.C1705T:p.P569S;NEDD4L:NM_001144967:exon19:c.C1765T:p.P589S;NEDD4L:NM_001144971:exon19:c.C1342T:p.P448S;NEDD4L:NM_001144968:exon19:c.C1741T:p.P581S;NEDD4L:NM_001144970:exon17:c.C1342T:p.P448S;NEDD4L:NM_001144965:exon19:c.C1402T:p.P468S;NEDD4L:NM_001144966:exon18:c.C1402T:p.P468S;NEDD4L:NM_001243960:exon17:c.C1573T:p.P525S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.C757T:p.P253S;ENSG00000049759:ENST00000435432:exon19:c.C1342T:p.P448S;ENSG00000049759:ENST00000382850:exon18:c.C1705T:p.P569S;ENSG00000049759:ENST00000456986:exon19:c.C1402T:p.P468S;ENSG00000049759:ENST00000256830:exon16:c.C1453T:p.P485S;ENSG00000049759:ENST00000456173:exon17:c.C1342T:p.P448S;ENSG00000049759:ENST00000357895:exon19:c.C1741T:p.P581S;ENSG00000049759:ENST00000256832:exon18:c.C1342T:p.P448S;ENSG00000049759:ENST00000431212:exon18:c.C1402T:p.P468S;ENSG00000049759:ENST00000356462:exon17:c.C1573T:p.P525S;ENSG00000049759:ENST00000400345:exon19:c.C1765T:p.P589S;ENSG00000049759:ENST00000586263:exon18:c.C1681T:p.P561S;	0.998208181971526	0.834
18	56024483	C	A	18	58357251	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.C1682A:p.P561Q;NEDD4L:NM_001144964:exon19:c.C1403A:p.P468Q;NEDD4L:NM_015277:exon18:c.C1706A:p.P569Q;NEDD4L:NM_001144967:exon19:c.C1766A:p.P589Q;NEDD4L:NM_001144971:exon19:c.C1343A:p.P448Q;NEDD4L:NM_001144968:exon19:c.C1742A:p.P581Q;NEDD4L:NM_001144970:exon17:c.C1343A:p.P448Q;NEDD4L:NM_001144965:exon19:c.C1403A:p.P468Q;NEDD4L:NM_001144966:exon18:c.C1403A:p.P468Q;NEDD4L:NM_001243960:exon17:c.C1574A:p.P525Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.C758A:p.P253Q;ENSG00000049759:ENST00000435432:exon19:c.C1343A:p.P448Q;ENSG00000049759:ENST00000382850:exon18:c.C1706A:p.P569Q;ENSG00000049759:ENST00000456986:exon19:c.C1403A:p.P468Q;ENSG00000049759:ENST00000256830:exon16:c.C1454A:p.P485Q;ENSG00000049759:ENST00000456173:exon17:c.C1343A:p.P448Q;ENSG00000049759:ENST00000357895:exon19:c.C1742A:p.P581Q;ENSG00000049759:ENST00000256832:exon18:c.C1343A:p.P448Q;ENSG00000049759:ENST00000431212:exon18:c.C1403A:p.P468Q;ENSG00000049759:ENST00000356462:exon17:c.C1574A:p.P525Q;ENSG00000049759:ENST00000400345:exon19:c.C1766A:p.P589Q;ENSG00000049759:ENST00000586263:exon18:c.C1682A:p.P561Q;	0.938183155898526	0.438
18	56024483	C	G	18	58357251	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.C1682G:p.P561R;NEDD4L:NM_001144964:exon19:c.C1403G:p.P468R;NEDD4L:NM_015277:exon18:c.C1706G:p.P569R;NEDD4L:NM_001144967:exon19:c.C1766G:p.P589R;NEDD4L:NM_001144971:exon19:c.C1343G:p.P448R;NEDD4L:NM_001144968:exon19:c.C1742G:p.P581R;NEDD4L:NM_001144970:exon17:c.C1343G:p.P448R;NEDD4L:NM_001144965:exon19:c.C1403G:p.P468R;NEDD4L:NM_001144966:exon18:c.C1403G:p.P468R;NEDD4L:NM_001243960:exon17:c.C1574G:p.P525R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.C758G:p.P253R;ENSG00000049759:ENST00000435432:exon19:c.C1343G:p.P448R;ENSG00000049759:ENST00000382850:exon18:c.C1706G:p.P569R;ENSG00000049759:ENST00000456986:exon19:c.C1403G:p.P468R;ENSG00000049759:ENST00000256830:exon16:c.C1454G:p.P485R;ENSG00000049759:ENST00000456173:exon17:c.C1343G:p.P448R;ENSG00000049759:ENST00000357895:exon19:c.C1742G:p.P581R;ENSG00000049759:ENST00000256832:exon18:c.C1343G:p.P448R;ENSG00000049759:ENST00000431212:exon18:c.C1403G:p.P468R;ENSG00000049759:ENST00000356462:exon17:c.C1574G:p.P525R;ENSG00000049759:ENST00000400345:exon19:c.C1766G:p.P589R;ENSG00000049759:ENST00000586263:exon18:c.C1682G:p.P561R;	0.9964480817313	0.728
18	56024483	C	T	18	58357251	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon18:c.C1682T:p.P561L;NEDD4L:NM_001144964:exon19:c.C1403T:p.P468L;NEDD4L:NM_015277:exon18:c.C1706T:p.P569L;NEDD4L:NM_001144967:exon19:c.C1766T:p.P589L;NEDD4L:NM_001144971:exon19:c.C1343T:p.P448L;NEDD4L:NM_001144968:exon19:c.C1742T:p.P581L;NEDD4L:NM_001144970:exon17:c.C1343T:p.P448L;NEDD4L:NM_001144965:exon19:c.C1403T:p.P468L;NEDD4L:NM_001144966:exon18:c.C1403T:p.P468L;NEDD4L:NM_001243960:exon17:c.C1574T:p.P525L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.C758T:p.P253L;ENSG00000049759:ENST00000435432:exon19:c.C1343T:p.P448L;ENSG00000049759:ENST00000382850:exon18:c.C1706T:p.P569L;ENSG00000049759:ENST00000456986:exon19:c.C1403T:p.P468L;ENSG00000049759:ENST00000256830:exon16:c.C1454T:p.P485L;ENSG00000049759:ENST00000456173:exon17:c.C1343T:p.P448L;ENSG00000049759:ENST00000357895:exon19:c.C1742T:p.P581L;ENSG00000049759:ENST00000256832:exon18:c.C1343T:p.P448L;ENSG00000049759:ENST00000431212:exon18:c.C1403T:p.P468L;ENSG00000049759:ENST00000356462:exon17:c.C1574T:p.P525L;ENSG00000049759:ENST00000400345:exon19:c.C1766T:p.P589L;ENSG00000049759:ENST00000586263:exon18:c.C1682T:p.P561L;	0.997839280385326	0.796
18	56024484	G	A	18	58357252	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon18:c.G1683A:p.P561P;NEDD4L:NM_001144964:exon19:c.G1404A:p.P468P;NEDD4L:NM_015277:exon18:c.G1707A:p.P569P;NEDD4L:NM_001144967:exon19:c.G1767A:p.P589P;NEDD4L:NM_001144971:exon19:c.G1344A:p.P448P;NEDD4L:NM_001144968:exon19:c.G1743A:p.P581P;NEDD4L:NM_001144970:exon17:c.G1344A:p.P448P;NEDD4L:NM_001144965:exon19:c.G1404A:p.P468P;NEDD4L:NM_001144966:exon18:c.G1404A:p.P468P;NEDD4L:NM_001243960:exon17:c.G1575A:p.P525P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.G759A:p.P253P;ENSG00000049759:ENST00000435432:exon19:c.G1344A:p.P448P;ENSG00000049759:ENST00000382850:exon18:c.G1707A:p.P569P;ENSG00000049759:ENST00000456986:exon19:c.G1404A:p.P468P;ENSG00000049759:ENST00000256830:exon16:c.G1455A:p.P485P;ENSG00000049759:ENST00000456173:exon17:c.G1344A:p.P448P;ENSG00000049759:ENST00000357895:exon19:c.G1743A:p.P581P;ENSG00000049759:ENST00000256832:exon18:c.G1344A:p.P448P;ENSG00000049759:ENST00000431212:exon18:c.G1404A:p.P468P;ENSG00000049759:ENST00000356462:exon17:c.G1575A:p.P525P;ENSG00000049759:ENST00000400345:exon19:c.G1767A:p.P589P;ENSG00000049759:ENST00000586263:exon18:c.G1683A:p.P561P;	0.999957036013899	0.94
18	56024484	G	C	18	58357252	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon18:c.G1683C:p.P561P;NEDD4L:NM_001144964:exon19:c.G1404C:p.P468P;NEDD4L:NM_015277:exon18:c.G1707C:p.P569P;NEDD4L:NM_001144967:exon19:c.G1767C:p.P589P;NEDD4L:NM_001144971:exon19:c.G1344C:p.P448P;NEDD4L:NM_001144968:exon19:c.G1743C:p.P581P;NEDD4L:NM_001144970:exon17:c.G1344C:p.P448P;NEDD4L:NM_001144965:exon19:c.G1404C:p.P468P;NEDD4L:NM_001144966:exon18:c.G1404C:p.P468P;NEDD4L:NM_001243960:exon17:c.G1575C:p.P525P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.G759C:p.P253P;ENSG00000049759:ENST00000435432:exon19:c.G1344C:p.P448P;ENSG00000049759:ENST00000382850:exon18:c.G1707C:p.P569P;ENSG00000049759:ENST00000456986:exon19:c.G1404C:p.P468P;ENSG00000049759:ENST00000256830:exon16:c.G1455C:p.P485P;ENSG00000049759:ENST00000456173:exon17:c.G1344C:p.P448P;ENSG00000049759:ENST00000357895:exon19:c.G1743C:p.P581P;ENSG00000049759:ENST00000256832:exon18:c.G1344C:p.P448P;ENSG00000049759:ENST00000431212:exon18:c.G1404C:p.P468P;ENSG00000049759:ENST00000356462:exon17:c.G1575C:p.P525P;ENSG00000049759:ENST00000400345:exon19:c.G1767C:p.P589P;ENSG00000049759:ENST00000586263:exon18:c.G1683C:p.P561P;	0.999898876025519	0.856
18	56024484	G	T	18	58357252	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon18:c.G1683T:p.P561P;NEDD4L:NM_001144964:exon19:c.G1404T:p.P468P;NEDD4L:NM_015277:exon18:c.G1707T:p.P569P;NEDD4L:NM_001144967:exon19:c.G1767T:p.P589P;NEDD4L:NM_001144971:exon19:c.G1344T:p.P448P;NEDD4L:NM_001144968:exon19:c.G1743T:p.P581P;NEDD4L:NM_001144970:exon17:c.G1344T:p.P448P;NEDD4L:NM_001144965:exon19:c.G1404T:p.P468P;NEDD4L:NM_001144966:exon18:c.G1404T:p.P468P;NEDD4L:NM_001243960:exon17:c.G1575T:p.P525P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon8:c.G759T:p.P253P;ENSG00000049759:ENST00000435432:exon19:c.G1344T:p.P448P;ENSG00000049759:ENST00000382850:exon18:c.G1707T:p.P569P;ENSG00000049759:ENST00000456986:exon19:c.G1404T:p.P468P;ENSG00000049759:ENST00000256830:exon16:c.G1455T:p.P485P;ENSG00000049759:ENST00000456173:exon17:c.G1344T:p.P448P;ENSG00000049759:ENST00000357895:exon19:c.G1743T:p.P581P;ENSG00000049759:ENST00000256832:exon18:c.G1344T:p.P448P;ENSG00000049759:ENST00000431212:exon18:c.G1404T:p.P468P;ENSG00000049759:ENST00000356462:exon17:c.G1575T:p.P525P;ENSG00000049759:ENST00000400345:exon19:c.G1767T:p.P589P;ENSG00000049759:ENST00000586263:exon18:c.G1683T:p.P561P;	0.999960529228061	0.956
18	56024485	G	A	18	58357253	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1767+1G>A;NM_001243960:exon17:c.1575+1G>A;NM_015277:exon18:c.1707+1G>A;NM_001144964:exon19:c.1404+1G>A;NM_001144968:exon19:c.1743+1G>A;NM_001144965:exon19:c.1404+1G>A;NM_001144971:exon19:c.1344+1G>A;NM_001144969:exon18:c.1683+1G>A;NM_001144970:exon17:c.1344+1G>A;NM_001144966:exon18:c.1404+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1575+1G>A;ENST00000400345:exon19:c.1767+1G>A;ENST00000256832:exon18:c.1344+1G>A;ENST00000382850:exon18:c.1707+1G>A;ENST00000256830:exon16:c.1455+1G>A;ENST00000456986:exon19:c.1404+1G>A;ENST00000357895:exon19:c.1743+1G>A;ENST00000435432:exon19:c.1344+1G>A;ENST00000586263:exon18:c.1683+1G>A;ENST00000456173:exon17:c.1344+1G>A;ENST00000431212:exon18:c.1404+1G>A;ENST00000587881:exon8:c.759+1G>A)	.	.	0.999986675681007	0.94
18	56024485	G	C	18	58357253	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1767+1G>C;NM_001243960:exon17:c.1575+1G>C;NM_015277:exon18:c.1707+1G>C;NM_001144964:exon19:c.1404+1G>C;NM_001144968:exon19:c.1743+1G>C;NM_001144965:exon19:c.1404+1G>C;NM_001144971:exon19:c.1344+1G>C;NM_001144969:exon18:c.1683+1G>C;NM_001144970:exon17:c.1344+1G>C;NM_001144966:exon18:c.1404+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1575+1G>C;ENST00000400345:exon19:c.1767+1G>C;ENST00000256832:exon18:c.1344+1G>C;ENST00000382850:exon18:c.1707+1G>C;ENST00000256830:exon16:c.1455+1G>C;ENST00000456986:exon19:c.1404+1G>C;ENST00000357895:exon19:c.1743+1G>C;ENST00000435432:exon19:c.1344+1G>C;ENST00000586263:exon18:c.1683+1G>C;ENST00000456173:exon17:c.1344+1G>C;ENST00000431212:exon18:c.1404+1G>C;ENST00000587881:exon8:c.759+1G>C)	.	.	0.999986675681007	0.94
18	56024485	G	T	18	58357253	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1767+1G>T;NM_001243960:exon17:c.1575+1G>T;NM_015277:exon18:c.1707+1G>T;NM_001144964:exon19:c.1404+1G>T;NM_001144968:exon19:c.1743+1G>T;NM_001144965:exon19:c.1404+1G>T;NM_001144971:exon19:c.1344+1G>T;NM_001144969:exon18:c.1683+1G>T;NM_001144970:exon17:c.1344+1G>T;NM_001144966:exon18:c.1404+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1575+1G>T;ENST00000400345:exon19:c.1767+1G>T;ENST00000256832:exon18:c.1344+1G>T;ENST00000382850:exon18:c.1707+1G>T;ENST00000256830:exon16:c.1455+1G>T;ENST00000456986:exon19:c.1404+1G>T;ENST00000357895:exon19:c.1743+1G>T;ENST00000435432:exon19:c.1344+1G>T;ENST00000586263:exon18:c.1683+1G>T;ENST00000456173:exon17:c.1344+1G>T;ENST00000431212:exon18:c.1404+1G>T;ENST00000587881:exon8:c.759+1G>T)	.	.	0.999986675681007	0.94
18	56024486	T	A	18	58357254	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1767+2T>A;NM_001243960:exon17:c.1575+2T>A;NM_015277:exon18:c.1707+2T>A;NM_001144964:exon19:c.1404+2T>A;NM_001144968:exon19:c.1743+2T>A;NM_001144965:exon19:c.1404+2T>A;NM_001144971:exon19:c.1344+2T>A;NM_001144969:exon18:c.1683+2T>A;NM_001144970:exon17:c.1344+2T>A;NM_001144966:exon18:c.1404+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1575+2T>A;ENST00000400345:exon19:c.1767+2T>A;ENST00000256832:exon18:c.1344+2T>A;ENST00000382850:exon18:c.1707+2T>A;ENST00000256830:exon16:c.1455+2T>A;ENST00000456986:exon19:c.1404+2T>A;ENST00000357895:exon19:c.1743+2T>A;ENST00000435432:exon19:c.1344+2T>A;ENST00000586263:exon18:c.1683+2T>A;ENST00000456173:exon17:c.1344+2T>A;ENST00000431212:exon18:c.1404+2T>A;ENST00000587881:exon8:c.759+2T>A)	.	.	0.999989917668626	0.928
18	56024486	T	C	18	58357254	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1767+2T>C;NM_001243960:exon17:c.1575+2T>C;NM_015277:exon18:c.1707+2T>C;NM_001144964:exon19:c.1404+2T>C;NM_001144968:exon19:c.1743+2T>C;NM_001144965:exon19:c.1404+2T>C;NM_001144971:exon19:c.1344+2T>C;NM_001144969:exon18:c.1683+2T>C;NM_001144970:exon17:c.1344+2T>C;NM_001144966:exon18:c.1404+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1575+2T>C;ENST00000400345:exon19:c.1767+2T>C;ENST00000256832:exon18:c.1344+2T>C;ENST00000382850:exon18:c.1707+2T>C;ENST00000256830:exon16:c.1455+2T>C;ENST00000456986:exon19:c.1404+2T>C;ENST00000357895:exon19:c.1743+2T>C;ENST00000435432:exon19:c.1344+2T>C;ENST00000586263:exon18:c.1683+2T>C;ENST00000456173:exon17:c.1344+2T>C;ENST00000431212:exon18:c.1404+2T>C;ENST00000587881:exon8:c.759+2T>C)	.	.	0.999941273443095	0.902
18	56024486	T	G	18	58357254	y	y	splicing	NEDD4L(NM_001144967:exon19:c.1767+2T>G;NM_001243960:exon17:c.1575+2T>G;NM_015277:exon18:c.1707+2T>G;NM_001144964:exon19:c.1404+2T>G;NM_001144968:exon19:c.1743+2T>G;NM_001144965:exon19:c.1404+2T>G;NM_001144971:exon19:c.1344+2T>G;NM_001144969:exon18:c.1683+2T>G;NM_001144970:exon17:c.1344+2T>G;NM_001144966:exon18:c.1404+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon17:c.1575+2T>G;ENST00000400345:exon19:c.1767+2T>G;ENST00000256832:exon18:c.1344+2T>G;ENST00000382850:exon18:c.1707+2T>G;ENST00000256830:exon16:c.1455+2T>G;ENST00000456986:exon19:c.1404+2T>G;ENST00000357895:exon19:c.1743+2T>G;ENST00000435432:exon19:c.1344+2T>G;ENST00000586263:exon18:c.1683+2T>G;ENST00000456173:exon17:c.1344+2T>G;ENST00000431212:exon18:c.1404+2T>G;ENST00000587881:exon8:c.759+2T>G)	.	.	0.999989917668626	0.928
18	56024487	C	A	18	58357255	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00104553682881022	0.08
18	56024487	C	G	18	58357255	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.51785352919377E-4	0.068
18	56024487	C	T	18	58357255	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00539914107178606	0.108
18	56024488	A	C	18	58357256	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.9975904451392	0.926
18	56024488	A	G	18	58357256	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997412245744119	0.88
18	56024488	A	T	18	58357256	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99787569877724	0.844
18	56024489	G	A	18	58357257	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999944230764307	0.996
18	56024489	G	C	18	58357257	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999929543522933	0.96
18	56024489	G	T	18	58357257	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999888471111921	0.974
18	56024490	T	A	18	58357258	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.990128103669433	0.8
18	56024490	T	C	18	58357258	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997394922964726	0.884
18	56024490	T	G	18	58357258	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.993415123080786	0.86
18	56024491	A	C	18	58357259	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0327339800911847	0.182
18	56024491	A	G	18	58357259	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0876670702534128	0.174
18	56024491	A	T	18	58357259	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.191418824633152	0.326
18	56024492	T	A	18	58357260	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.68771017590937E-4	0.006
18	56024492	T	C	18	58357260	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0056074035793448	0.0
18	56024492	T	G	18	58357260	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00374708749900459	0.072
18	56031488	T	A	18	58364256	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0648080849242407	0.516
18	56031488	T	C	18	58364256	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.00638384769973E-4	0.016
18	56031488	T	G	18	58364256	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999740979914523	0.944
18	56031489	T	A	18	58364257	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.778014112696124	0.75
18	56031489	T	C	18	58364257	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0712508665274994	0.294
18	56031489	T	G	18	58364257	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.801681968944939	0.73
18	56031490	T	A	18	58364258	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99507926568721	0.886
18	56031490	T	C	18	58364258	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.732677557353694	0.408
18	56031490	T	G	18	58364258	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99093610442155	0.864
18	56031491	A	C	18	58364259	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.0697059685056E-5	0.024
18	56031491	A	G	18	58364259	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.93103356506262E-4	0.056
18	56031491	A	T	18	58364259	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.01783417998325E-5	0.016
18	56031492	T	A	18	58364260	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00599798863213809	0.186
18	56031492	T	C	18	58364260	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.44086515974402E-5	0.016
18	56031492	T	G	18	58364260	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999610434091864	0.978
18	56031493	C	A	18	58364261	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.36270726769056	0.388
18	56031493	C	G	18	58364261	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.549178051028275	0.364
18	56031493	C	T	18	58364261	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00235544017322422	0.08
18	56031494	T	A	18	58364262	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.987297687530341	0.81
18	56031494	T	C	18	58364262	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0065282257976612	0.096
18	56031494	T	G	18	58364262	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.993640097976995	0.808
18	56031495	T	A	18	58364263	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.952953230549804	0.746
18	56031495	T	C	18	58364263	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.460546565561929	0.302
18	56031495	T	G	18	58364263	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.980670973726556	0.746
18	56031496	C	A	18	58364264	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.9298990303294E-5	0.008
18	56031496	C	G	18	58364264	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.29998273057659E-5	0.004
18	56031496	C	T	18	58364264	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.2391265176915E-4	0.022
18	56031497	C	A	18	58364265	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.79987407214861	0.574
18	56031497	C	G	18	58364265	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.965286138129411	0.834
18	56031497	C	T	18	58364265	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.68149509146814E-4	0.074
18	56031498	A	C	18	58364266	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1768-2A>C;NM_001243960:exon18:c.1576-2A>C;NM_015277:exon19:c.1708-2A>C;NM_001144964:exon20:c.1405-2A>C;NM_001144968:exon20:c.1744-2A>C;NM_001144965:exon20:c.1405-2A>C;NM_001144971:exon20:c.1345-2A>C;NM_001144969:exon19:c.1684-2A>C;NM_001144970:exon18:c.1345-2A>C;NM_001144966:exon19:c.1405-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1576-2A>C;ENST00000400345:exon20:c.1768-2A>C;ENST00000256832:exon20:c.1348-2A>C;ENST00000382850:exon19:c.1708-2A>C;ENST00000256830:exon17:c.1456-2A>C;ENST00000456986:exon20:c.1405-2A>C;ENST00000357895:exon20:c.1744-2A>C;ENST00000435432:exon20:c.1345-2A>C;ENST00000586263:exon19:c.1684-2A>C;ENST00000456173:exon18:c.1345-2A>C;ENST00000431212:exon19:c.1405-2A>C;ENST00000587881:exon9:c.760-2A>C)	.	.	0.999988247793601	0.93
18	56031498	A	G	18	58364266	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1768-2A>G;NM_001243960:exon18:c.1576-2A>G;NM_015277:exon19:c.1708-2A>G;NM_001144964:exon20:c.1405-2A>G;NM_001144968:exon20:c.1744-2A>G;NM_001144965:exon20:c.1405-2A>G;NM_001144971:exon20:c.1345-2A>G;NM_001144969:exon19:c.1684-2A>G;NM_001144970:exon18:c.1345-2A>G;NM_001144966:exon19:c.1405-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1576-2A>G;ENST00000400345:exon20:c.1768-2A>G;ENST00000256832:exon20:c.1348-2A>G;ENST00000382850:exon19:c.1708-2A>G;ENST00000256830:exon17:c.1456-2A>G;ENST00000456986:exon20:c.1405-2A>G;ENST00000357895:exon20:c.1744-2A>G;ENST00000435432:exon20:c.1345-2A>G;ENST00000586263:exon19:c.1684-2A>G;ENST00000456173:exon18:c.1345-2A>G;ENST00000431212:exon19:c.1405-2A>G;ENST00000587881:exon9:c.760-2A>G)	.	.	0.999988247793601	0.93
18	56031498	A	T	18	58364266	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1768-2A>T;NM_001243960:exon18:c.1576-2A>T;NM_015277:exon19:c.1708-2A>T;NM_001144964:exon20:c.1405-2A>T;NM_001144968:exon20:c.1744-2A>T;NM_001144965:exon20:c.1405-2A>T;NM_001144971:exon20:c.1345-2A>T;NM_001144969:exon19:c.1684-2A>T;NM_001144970:exon18:c.1345-2A>T;NM_001144966:exon19:c.1405-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1576-2A>T;ENST00000400345:exon20:c.1768-2A>T;ENST00000256832:exon20:c.1348-2A>T;ENST00000382850:exon19:c.1708-2A>T;ENST00000256830:exon17:c.1456-2A>T;ENST00000456986:exon20:c.1405-2A>T;ENST00000357895:exon20:c.1744-2A>T;ENST00000435432:exon20:c.1345-2A>T;ENST00000586263:exon19:c.1684-2A>T;ENST00000456173:exon18:c.1345-2A>T;ENST00000431212:exon19:c.1405-2A>T;ENST00000587881:exon9:c.760-2A>T)	.	.	0.999988247793601	0.93
18	56031499	G	A	18	58364267	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1768-1G>A;NM_001243960:exon18:c.1576-1G>A;NM_015277:exon19:c.1708-1G>A;NM_001144964:exon20:c.1405-1G>A;NM_001144968:exon20:c.1744-1G>A;NM_001144965:exon20:c.1405-1G>A;NM_001144971:exon20:c.1345-1G>A;NM_001144969:exon19:c.1684-1G>A;NM_001144970:exon18:c.1345-1G>A;NM_001144966:exon19:c.1405-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1576-1G>A;ENST00000400345:exon20:c.1768-1G>A;ENST00000256832:exon20:c.1348-1G>A;ENST00000382850:exon19:c.1708-1G>A;ENST00000256830:exon17:c.1456-1G>A;ENST00000456986:exon20:c.1405-1G>A;ENST00000357895:exon20:c.1744-1G>A;ENST00000435432:exon20:c.1345-1G>A;ENST00000586263:exon19:c.1684-1G>A;ENST00000456173:exon18:c.1345-1G>A;ENST00000431212:exon19:c.1405-1G>A;ENST00000587881:exon9:c.760-1G>A)	.	.	0.999990361384395	0.938
18	56031499	G	C	18	58364267	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1768-1G>C;NM_001243960:exon18:c.1576-1G>C;NM_015277:exon19:c.1708-1G>C;NM_001144964:exon20:c.1405-1G>C;NM_001144968:exon20:c.1744-1G>C;NM_001144965:exon20:c.1405-1G>C;NM_001144971:exon20:c.1345-1G>C;NM_001144969:exon19:c.1684-1G>C;NM_001144970:exon18:c.1345-1G>C;NM_001144966:exon19:c.1405-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1576-1G>C;ENST00000400345:exon20:c.1768-1G>C;ENST00000256832:exon20:c.1348-1G>C;ENST00000382850:exon19:c.1708-1G>C;ENST00000256830:exon17:c.1456-1G>C;ENST00000456986:exon20:c.1405-1G>C;ENST00000357895:exon20:c.1744-1G>C;ENST00000435432:exon20:c.1345-1G>C;ENST00000586263:exon19:c.1684-1G>C;ENST00000456173:exon18:c.1345-1G>C;ENST00000431212:exon19:c.1405-1G>C;ENST00000587881:exon9:c.760-1G>C)	.	.	0.999990361384395	0.938
18	56031499	G	T	18	58364267	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1768-1G>T;NM_001243960:exon18:c.1576-1G>T;NM_015277:exon19:c.1708-1G>T;NM_001144964:exon20:c.1405-1G>T;NM_001144968:exon20:c.1744-1G>T;NM_001144965:exon20:c.1405-1G>T;NM_001144971:exon20:c.1345-1G>T;NM_001144969:exon19:c.1684-1G>T;NM_001144970:exon18:c.1345-1G>T;NM_001144966:exon19:c.1405-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1576-1G>T;ENST00000400345:exon20:c.1768-1G>T;ENST00000256832:exon20:c.1348-1G>T;ENST00000382850:exon19:c.1708-1G>T;ENST00000256830:exon17:c.1456-1G>T;ENST00000456986:exon20:c.1405-1G>T;ENST00000357895:exon20:c.1744-1G>T;ENST00000435432:exon20:c.1345-1G>T;ENST00000586263:exon19:c.1684-1G>T;ENST00000456173:exon18:c.1345-1G>T;ENST00000431212:exon19:c.1405-1G>T;ENST00000587881:exon9:c.760-1G>T)	.	.	0.999990361384395	0.938
18	56031500	G	A	18	58364268	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.G1684A:p.A562T;NEDD4L:NM_001144964:exon20:c.G1405A:p.A469T;NEDD4L:NM_015277:exon19:c.G1708A:p.A570T;NEDD4L:NM_001144967:exon20:c.G1768A:p.A590T;NEDD4L:NM_001144971:exon20:c.G1345A:p.A449T;NEDD4L:NM_001144968:exon20:c.G1744A:p.A582T;NEDD4L:NM_001144970:exon18:c.G1345A:p.A449T;NEDD4L:NM_001144965:exon20:c.G1405A:p.A469T;NEDD4L:NM_001144966:exon19:c.G1405A:p.A469T;NEDD4L:NM_001243960:exon18:c.G1576A:p.A526T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.G760A:p.A254T;ENSG00000049759:ENST00000435432:exon20:c.G1345A:p.A449T;ENSG00000049759:ENST00000382850:exon19:c.G1708A:p.A570T;ENSG00000049759:ENST00000456986:exon20:c.G1405A:p.A469T;ENSG00000049759:ENST00000256830:exon17:c.G1456A:p.A486T;ENSG00000049759:ENST00000456173:exon18:c.G1345A:p.A449T;ENSG00000049759:ENST00000357895:exon20:c.G1744A:p.A582T;ENSG00000049759:ENST00000256832:exon20:c.G1348A:p.A450T;ENSG00000049759:ENST00000431212:exon19:c.G1405A:p.A469T;ENSG00000049759:ENST00000356462:exon18:c.G1576A:p.A526T;ENSG00000049759:ENST00000400345:exon20:c.G1768A:p.A590T;ENSG00000049759:ENST00000586263:exon19:c.G1684A:p.A562T;	0.999294960820596	0.906
18	56031500	G	C	18	58364268	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.G1684C:p.A562P;NEDD4L:NM_001144964:exon20:c.G1405C:p.A469P;NEDD4L:NM_015277:exon19:c.G1708C:p.A570P;NEDD4L:NM_001144967:exon20:c.G1768C:p.A590P;NEDD4L:NM_001144971:exon20:c.G1345C:p.A449P;NEDD4L:NM_001144968:exon20:c.G1744C:p.A582P;NEDD4L:NM_001144970:exon18:c.G1345C:p.A449P;NEDD4L:NM_001144965:exon20:c.G1405C:p.A469P;NEDD4L:NM_001144966:exon19:c.G1405C:p.A469P;NEDD4L:NM_001243960:exon18:c.G1576C:p.A526P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.G760C:p.A254P;ENSG00000049759:ENST00000435432:exon20:c.G1345C:p.A449P;ENSG00000049759:ENST00000382850:exon19:c.G1708C:p.A570P;ENSG00000049759:ENST00000456986:exon20:c.G1405C:p.A469P;ENSG00000049759:ENST00000256830:exon17:c.G1456C:p.A486P;ENSG00000049759:ENST00000456173:exon18:c.G1345C:p.A449P;ENSG00000049759:ENST00000357895:exon20:c.G1744C:p.A582P;ENSG00000049759:ENST00000256832:exon20:c.G1348C:p.A450P;ENSG00000049759:ENST00000431212:exon19:c.G1405C:p.A469P;ENSG00000049759:ENST00000356462:exon18:c.G1576C:p.A526P;ENSG00000049759:ENST00000400345:exon20:c.G1768C:p.A590P;ENSG00000049759:ENST00000586263:exon19:c.G1684C:p.A562P;	0.99986944985397	0.992
18	56031500	G	T	18	58364268	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.G1684T:p.A562S;NEDD4L:NM_001144964:exon20:c.G1405T:p.A469S;NEDD4L:NM_015277:exon19:c.G1708T:p.A570S;NEDD4L:NM_001144967:exon20:c.G1768T:p.A590S;NEDD4L:NM_001144971:exon20:c.G1345T:p.A449S;NEDD4L:NM_001144968:exon20:c.G1744T:p.A582S;NEDD4L:NM_001144970:exon18:c.G1345T:p.A449S;NEDD4L:NM_001144965:exon20:c.G1405T:p.A469S;NEDD4L:NM_001144966:exon19:c.G1405T:p.A469S;NEDD4L:NM_001243960:exon18:c.G1576T:p.A526S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.G760T:p.A254S;ENSG00000049759:ENST00000435432:exon20:c.G1345T:p.A449S;ENSG00000049759:ENST00000382850:exon19:c.G1708T:p.A570S;ENSG00000049759:ENST00000456986:exon20:c.G1405T:p.A469S;ENSG00000049759:ENST00000256830:exon17:c.G1456T:p.A486S;ENSG00000049759:ENST00000456173:exon18:c.G1345T:p.A449S;ENSG00000049759:ENST00000357895:exon20:c.G1744T:p.A582S;ENSG00000049759:ENST00000256832:exon20:c.G1348T:p.A450S;ENSG00000049759:ENST00000431212:exon19:c.G1405T:p.A469S;ENSG00000049759:ENST00000356462:exon18:c.G1576T:p.A526S;ENSG00000049759:ENST00000400345:exon20:c.G1768T:p.A590S;ENSG00000049759:ENST00000586263:exon19:c.G1684T:p.A562S;	0.999901548913697	0.976
18	56031501	C	A	18	58364269	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1685A:p.A562D;NEDD4L:NM_001144964:exon20:c.C1406A:p.A469D;NEDD4L:NM_015277:exon19:c.C1709A:p.A570D;NEDD4L:NM_001144967:exon20:c.C1769A:p.A590D;NEDD4L:NM_001144971:exon20:c.C1346A:p.A449D;NEDD4L:NM_001144968:exon20:c.C1745A:p.A582D;NEDD4L:NM_001144970:exon18:c.C1346A:p.A449D;NEDD4L:NM_001144965:exon20:c.C1406A:p.A469D;NEDD4L:NM_001144966:exon19:c.C1406A:p.A469D;NEDD4L:NM_001243960:exon18:c.C1577A:p.A526D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C761A:p.A254D;ENSG00000049759:ENST00000435432:exon20:c.C1346A:p.A449D;ENSG00000049759:ENST00000382850:exon19:c.C1709A:p.A570D;ENSG00000049759:ENST00000456986:exon20:c.C1406A:p.A469D;ENSG00000049759:ENST00000256830:exon17:c.C1457A:p.A486D;ENSG00000049759:ENST00000456173:exon18:c.C1346A:p.A449D;ENSG00000049759:ENST00000357895:exon20:c.C1745A:p.A582D;ENSG00000049759:ENST00000256832:exon20:c.C1349A:p.A450D;ENSG00000049759:ENST00000431212:exon19:c.C1406A:p.A469D;ENSG00000049759:ENST00000356462:exon18:c.C1577A:p.A526D;ENSG00000049759:ENST00000400345:exon20:c.C1769A:p.A590D;ENSG00000049759:ENST00000586263:exon19:c.C1685A:p.A562D;	0.998788919252933	0.902
18	56031501	C	G	18	58364269	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1685G:p.A562G;NEDD4L:NM_001144964:exon20:c.C1406G:p.A469G;NEDD4L:NM_015277:exon19:c.C1709G:p.A570G;NEDD4L:NM_001144967:exon20:c.C1769G:p.A590G;NEDD4L:NM_001144971:exon20:c.C1346G:p.A449G;NEDD4L:NM_001144968:exon20:c.C1745G:p.A582G;NEDD4L:NM_001144970:exon18:c.C1346G:p.A449G;NEDD4L:NM_001144965:exon20:c.C1406G:p.A469G;NEDD4L:NM_001144966:exon19:c.C1406G:p.A469G;NEDD4L:NM_001243960:exon18:c.C1577G:p.A526G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C761G:p.A254G;ENSG00000049759:ENST00000435432:exon20:c.C1346G:p.A449G;ENSG00000049759:ENST00000382850:exon19:c.C1709G:p.A570G;ENSG00000049759:ENST00000456986:exon20:c.C1406G:p.A469G;ENSG00000049759:ENST00000256830:exon17:c.C1457G:p.A486G;ENSG00000049759:ENST00000456173:exon18:c.C1346G:p.A449G;ENSG00000049759:ENST00000357895:exon20:c.C1745G:p.A582G;ENSG00000049759:ENST00000256832:exon20:c.C1349G:p.A450G;ENSG00000049759:ENST00000431212:exon19:c.C1406G:p.A469G;ENSG00000049759:ENST00000356462:exon18:c.C1577G:p.A526G;ENSG00000049759:ENST00000400345:exon20:c.C1769G:p.A590G;ENSG00000049759:ENST00000586263:exon19:c.C1685G:p.A562G;	0.985116225658208	0.81
18	56031501	C	T	18	58364269	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1685T:p.A562V;NEDD4L:NM_001144964:exon20:c.C1406T:p.A469V;NEDD4L:NM_015277:exon19:c.C1709T:p.A570V;NEDD4L:NM_001144967:exon20:c.C1769T:p.A590V;NEDD4L:NM_001144971:exon20:c.C1346T:p.A449V;NEDD4L:NM_001144968:exon20:c.C1745T:p.A582V;NEDD4L:NM_001144970:exon18:c.C1346T:p.A449V;NEDD4L:NM_001144965:exon20:c.C1406T:p.A469V;NEDD4L:NM_001144966:exon19:c.C1406T:p.A469V;NEDD4L:NM_001243960:exon18:c.C1577T:p.A526V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C761T:p.A254V;ENSG00000049759:ENST00000435432:exon20:c.C1346T:p.A449V;ENSG00000049759:ENST00000382850:exon19:c.C1709T:p.A570V;ENSG00000049759:ENST00000456986:exon20:c.C1406T:p.A469V;ENSG00000049759:ENST00000256830:exon17:c.C1457T:p.A486V;ENSG00000049759:ENST00000456173:exon18:c.C1346T:p.A449V;ENSG00000049759:ENST00000357895:exon20:c.C1745T:p.A582V;ENSG00000049759:ENST00000256832:exon20:c.C1349T:p.A450V;ENSG00000049759:ENST00000431212:exon19:c.C1406T:p.A469V;ENSG00000049759:ENST00000356462:exon18:c.C1577T:p.A526V;ENSG00000049759:ENST00000400345:exon20:c.C1769T:p.A590V;ENSG00000049759:ENST00000586263:exon19:c.C1685T:p.A562V;	0.987211888648224	0.858
18	56031563	C	A	18	58364331	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1747A:p.P583T;NEDD4L:NM_001144964:exon20:c.C1468A:p.P490T;NEDD4L:NM_015277:exon19:c.C1771A:p.P591T;NEDD4L:NM_001144967:exon20:c.C1831A:p.P611T;NEDD4L:NM_001144971:exon20:c.C1408A:p.P470T;NEDD4L:NM_001144968:exon20:c.C1807A:p.P603T;NEDD4L:NM_001144970:exon18:c.C1408A:p.P470T;NEDD4L:NM_001144965:exon20:c.C1468A:p.P490T;NEDD4L:NM_001144966:exon19:c.C1468A:p.P490T;NEDD4L:NM_001243960:exon18:c.C1639A:p.P547T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C823A:p.P275T;ENSG00000049759:ENST00000435432:exon20:c.C1408A:p.P470T;ENSG00000049759:ENST00000382850:exon19:c.C1771A:p.P591T;ENSG00000049759:ENST00000456986:exon20:c.C1468A:p.P490T;ENSG00000049759:ENST00000256830:exon17:c.C1519A:p.P507T;ENSG00000049759:ENST00000456173:exon18:c.C1408A:p.P470T;ENSG00000049759:ENST00000357895:exon20:c.C1807A:p.P603T;ENSG00000049759:ENST00000256832:exon20:c.C1411A:p.P471T;ENSG00000049759:ENST00000431212:exon19:c.C1468A:p.P490T;ENSG00000049759:ENST00000356462:exon18:c.C1639A:p.P547T;ENSG00000049759:ENST00000400345:exon20:c.C1831A:p.P611T;ENSG00000049759:ENST00000586263:exon19:c.C1747A:p.P583T;	0.96617353127302	0.724
18	56031563	C	G	18	58364331	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1747G:p.P583A;NEDD4L:NM_001144964:exon20:c.C1468G:p.P490A;NEDD4L:NM_015277:exon19:c.C1771G:p.P591A;NEDD4L:NM_001144967:exon20:c.C1831G:p.P611A;NEDD4L:NM_001144971:exon20:c.C1408G:p.P470A;NEDD4L:NM_001144968:exon20:c.C1807G:p.P603A;NEDD4L:NM_001144970:exon18:c.C1408G:p.P470A;NEDD4L:NM_001144965:exon20:c.C1468G:p.P490A;NEDD4L:NM_001144966:exon19:c.C1468G:p.P490A;NEDD4L:NM_001243960:exon18:c.C1639G:p.P547A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C823G:p.P275A;ENSG00000049759:ENST00000435432:exon20:c.C1408G:p.P470A;ENSG00000049759:ENST00000382850:exon19:c.C1771G:p.P591A;ENSG00000049759:ENST00000456986:exon20:c.C1468G:p.P490A;ENSG00000049759:ENST00000256830:exon17:c.C1519G:p.P507A;ENSG00000049759:ENST00000456173:exon18:c.C1408G:p.P470A;ENSG00000049759:ENST00000357895:exon20:c.C1807G:p.P603A;ENSG00000049759:ENST00000256832:exon20:c.C1411G:p.P471A;ENSG00000049759:ENST00000431212:exon19:c.C1468G:p.P490A;ENSG00000049759:ENST00000356462:exon18:c.C1639G:p.P547A;ENSG00000049759:ENST00000400345:exon20:c.C1831G:p.P611A;ENSG00000049759:ENST00000586263:exon19:c.C1747G:p.P583A;	0.978751706316388	0.606
18	56031563	C	T	18	58364331	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1747T:p.P583S;NEDD4L:NM_001144964:exon20:c.C1468T:p.P490S;NEDD4L:NM_015277:exon19:c.C1771T:p.P591S;NEDD4L:NM_001144967:exon20:c.C1831T:p.P611S;NEDD4L:NM_001144971:exon20:c.C1408T:p.P470S;NEDD4L:NM_001144968:exon20:c.C1807T:p.P603S;NEDD4L:NM_001144970:exon18:c.C1408T:p.P470S;NEDD4L:NM_001144965:exon20:c.C1468T:p.P490S;NEDD4L:NM_001144966:exon19:c.C1468T:p.P490S;NEDD4L:NM_001243960:exon18:c.C1639T:p.P547S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C823T:p.P275S;ENSG00000049759:ENST00000435432:exon20:c.C1408T:p.P470S;ENSG00000049759:ENST00000382850:exon19:c.C1771T:p.P591S;ENSG00000049759:ENST00000456986:exon20:c.C1468T:p.P490S;ENSG00000049759:ENST00000256830:exon17:c.C1519T:p.P507S;ENSG00000049759:ENST00000456173:exon18:c.C1408T:p.P470S;ENSG00000049759:ENST00000357895:exon20:c.C1807T:p.P603S;ENSG00000049759:ENST00000256832:exon20:c.C1411T:p.P471S;ENSG00000049759:ENST00000431212:exon19:c.C1468T:p.P490S;ENSG00000049759:ENST00000356462:exon18:c.C1639T:p.P547S;ENSG00000049759:ENST00000400345:exon20:c.C1831T:p.P611S;ENSG00000049759:ENST00000586263:exon19:c.C1747T:p.P583S;	0.999705846840289	0.824
18	56031564	C	A	18	58364332	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1748A:p.P583H;NEDD4L:NM_001144964:exon20:c.C1469A:p.P490H;NEDD4L:NM_015277:exon19:c.C1772A:p.P591H;NEDD4L:NM_001144967:exon20:c.C1832A:p.P611H;NEDD4L:NM_001144971:exon20:c.C1409A:p.P470H;NEDD4L:NM_001144968:exon20:c.C1808A:p.P603H;NEDD4L:NM_001144970:exon18:c.C1409A:p.P470H;NEDD4L:NM_001144965:exon20:c.C1469A:p.P490H;NEDD4L:NM_001144966:exon19:c.C1469A:p.P490H;NEDD4L:NM_001243960:exon18:c.C1640A:p.P547H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C824A:p.P275H;ENSG00000049759:ENST00000435432:exon20:c.C1409A:p.P470H;ENSG00000049759:ENST00000382850:exon19:c.C1772A:p.P591H;ENSG00000049759:ENST00000456986:exon20:c.C1469A:p.P490H;ENSG00000049759:ENST00000256830:exon17:c.C1520A:p.P507H;ENSG00000049759:ENST00000456173:exon18:c.C1409A:p.P470H;ENSG00000049759:ENST00000357895:exon20:c.C1808A:p.P603H;ENSG00000049759:ENST00000256832:exon20:c.C1412A:p.P471H;ENSG00000049759:ENST00000431212:exon19:c.C1469A:p.P490H;ENSG00000049759:ENST00000356462:exon18:c.C1640A:p.P547H;ENSG00000049759:ENST00000400345:exon20:c.C1832A:p.P611H;ENSG00000049759:ENST00000586263:exon19:c.C1748A:p.P583H;	0.979548765601106	0.706
18	56031564	C	G	18	58364332	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1748G:p.P583R;NEDD4L:NM_001144964:exon20:c.C1469G:p.P490R;NEDD4L:NM_015277:exon19:c.C1772G:p.P591R;NEDD4L:NM_001144967:exon20:c.C1832G:p.P611R;NEDD4L:NM_001144971:exon20:c.C1409G:p.P470R;NEDD4L:NM_001144968:exon20:c.C1808G:p.P603R;NEDD4L:NM_001144970:exon18:c.C1409G:p.P470R;NEDD4L:NM_001144965:exon20:c.C1469G:p.P490R;NEDD4L:NM_001144966:exon19:c.C1469G:p.P490R;NEDD4L:NM_001243960:exon18:c.C1640G:p.P547R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C824G:p.P275R;ENSG00000049759:ENST00000435432:exon20:c.C1409G:p.P470R;ENSG00000049759:ENST00000382850:exon19:c.C1772G:p.P591R;ENSG00000049759:ENST00000456986:exon20:c.C1469G:p.P490R;ENSG00000049759:ENST00000256830:exon17:c.C1520G:p.P507R;ENSG00000049759:ENST00000456173:exon18:c.C1409G:p.P470R;ENSG00000049759:ENST00000357895:exon20:c.C1808G:p.P603R;ENSG00000049759:ENST00000256832:exon20:c.C1412G:p.P471R;ENSG00000049759:ENST00000431212:exon19:c.C1469G:p.P490R;ENSG00000049759:ENST00000356462:exon18:c.C1640G:p.P547R;ENSG00000049759:ENST00000400345:exon20:c.C1832G:p.P611R;ENSG00000049759:ENST00000586263:exon19:c.C1748G:p.P583R;	0.988016587464578	0.916
18	56031564	C	T	18	58364332	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon19:c.C1748T:p.P583L;NEDD4L:NM_001144964:exon20:c.C1469T:p.P490L;NEDD4L:NM_015277:exon19:c.C1772T:p.P591L;NEDD4L:NM_001144967:exon20:c.C1832T:p.P611L;NEDD4L:NM_001144971:exon20:c.C1409T:p.P470L;NEDD4L:NM_001144968:exon20:c.C1808T:p.P603L;NEDD4L:NM_001144970:exon18:c.C1409T:p.P470L;NEDD4L:NM_001144965:exon20:c.C1469T:p.P490L;NEDD4L:NM_001144966:exon19:c.C1469T:p.P490L;NEDD4L:NM_001243960:exon18:c.C1640T:p.P547L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.C824T:p.P275L;ENSG00000049759:ENST00000435432:exon20:c.C1409T:p.P470L;ENSG00000049759:ENST00000382850:exon19:c.C1772T:p.P591L;ENSG00000049759:ENST00000456986:exon20:c.C1469T:p.P490L;ENSG00000049759:ENST00000256830:exon17:c.C1520T:p.P507L;ENSG00000049759:ENST00000456173:exon18:c.C1409T:p.P470L;ENSG00000049759:ENST00000357895:exon20:c.C1808T:p.P603L;ENSG00000049759:ENST00000256832:exon20:c.C1412T:p.P471L;ENSG00000049759:ENST00000431212:exon19:c.C1469T:p.P490L;ENSG00000049759:ENST00000356462:exon18:c.C1640T:p.P547L;ENSG00000049759:ENST00000400345:exon20:c.C1832T:p.P611L;ENSG00000049759:ENST00000586263:exon19:c.C1748T:p.P583L;	0.990684294510241	0.896
18	56031565	T	A	18	58364333	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon19:c.T1749A:p.P583P;NEDD4L:NM_001144964:exon20:c.T1470A:p.P490P;NEDD4L:NM_015277:exon19:c.T1773A:p.P591P;NEDD4L:NM_001144967:exon20:c.T1833A:p.P611P;NEDD4L:NM_001144971:exon20:c.T1410A:p.P470P;NEDD4L:NM_001144968:exon20:c.T1809A:p.P603P;NEDD4L:NM_001144970:exon18:c.T1410A:p.P470P;NEDD4L:NM_001144965:exon20:c.T1470A:p.P490P;NEDD4L:NM_001144966:exon19:c.T1470A:p.P490P;NEDD4L:NM_001243960:exon18:c.T1641A:p.P547P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.T825A:p.P275P;ENSG00000049759:ENST00000435432:exon20:c.T1410A:p.P470P;ENSG00000049759:ENST00000382850:exon19:c.T1773A:p.P591P;ENSG00000049759:ENST00000456986:exon20:c.T1470A:p.P490P;ENSG00000049759:ENST00000256830:exon17:c.T1521A:p.P507P;ENSG00000049759:ENST00000456173:exon18:c.T1410A:p.P470P;ENSG00000049759:ENST00000357895:exon20:c.T1809A:p.P603P;ENSG00000049759:ENST00000256832:exon20:c.T1413A:p.P471P;ENSG00000049759:ENST00000431212:exon19:c.T1470A:p.P490P;ENSG00000049759:ENST00000356462:exon18:c.T1641A:p.P547P;ENSG00000049759:ENST00000400345:exon20:c.T1833A:p.P611P;ENSG00000049759:ENST00000586263:exon19:c.T1749A:p.P583P;	2.39811183951353E-5	0.002
18	56031565	T	C	18	58364333	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon19:c.T1749C:p.P583P;NEDD4L:NM_001144964:exon20:c.T1470C:p.P490P;NEDD4L:NM_015277:exon19:c.T1773C:p.P591P;NEDD4L:NM_001144967:exon20:c.T1833C:p.P611P;NEDD4L:NM_001144971:exon20:c.T1410C:p.P470P;NEDD4L:NM_001144968:exon20:c.T1809C:p.P603P;NEDD4L:NM_001144970:exon18:c.T1410C:p.P470P;NEDD4L:NM_001144965:exon20:c.T1470C:p.P490P;NEDD4L:NM_001144966:exon19:c.T1470C:p.P490P;NEDD4L:NM_001243960:exon18:c.T1641C:p.P547P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.T825C:p.P275P;ENSG00000049759:ENST00000435432:exon20:c.T1410C:p.P470P;ENSG00000049759:ENST00000382850:exon19:c.T1773C:p.P591P;ENSG00000049759:ENST00000456986:exon20:c.T1470C:p.P490P;ENSG00000049759:ENST00000256830:exon17:c.T1521C:p.P507P;ENSG00000049759:ENST00000456173:exon18:c.T1410C:p.P470P;ENSG00000049759:ENST00000357895:exon20:c.T1809C:p.P603P;ENSG00000049759:ENST00000256832:exon20:c.T1413C:p.P471P;ENSG00000049759:ENST00000431212:exon19:c.T1470C:p.P490P;ENSG00000049759:ENST00000356462:exon18:c.T1641C:p.P547P;ENSG00000049759:ENST00000400345:exon20:c.T1833C:p.P611P;ENSG00000049759:ENST00000586263:exon19:c.T1749C:p.P583P;	2.86727781474622E-5	0.018
18	56031565	T	G	18	58364333	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon19:c.T1749G:p.P583P;NEDD4L:NM_001144964:exon20:c.T1470G:p.P490P;NEDD4L:NM_015277:exon19:c.T1773G:p.P591P;NEDD4L:NM_001144967:exon20:c.T1833G:p.P611P;NEDD4L:NM_001144971:exon20:c.T1410G:p.P470P;NEDD4L:NM_001144968:exon20:c.T1809G:p.P603P;NEDD4L:NM_001144970:exon18:c.T1410G:p.P470P;NEDD4L:NM_001144965:exon20:c.T1470G:p.P490P;NEDD4L:NM_001144966:exon19:c.T1470G:p.P490P;NEDD4L:NM_001243960:exon18:c.T1641G:p.P547P;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon9:c.T825G:p.P275P;ENSG00000049759:ENST00000435432:exon20:c.T1410G:p.P470P;ENSG00000049759:ENST00000382850:exon19:c.T1773G:p.P591P;ENSG00000049759:ENST00000456986:exon20:c.T1470G:p.P490P;ENSG00000049759:ENST00000256830:exon17:c.T1521G:p.P507P;ENSG00000049759:ENST00000456173:exon18:c.T1410G:p.P470P;ENSG00000049759:ENST00000357895:exon20:c.T1809G:p.P603P;ENSG00000049759:ENST00000256832:exon20:c.T1413G:p.P471P;ENSG00000049759:ENST00000431212:exon19:c.T1470G:p.P490P;ENSG00000049759:ENST00000356462:exon18:c.T1641G:p.P547P;ENSG00000049759:ENST00000400345:exon20:c.T1833G:p.P611P;ENSG00000049759:ENST00000586263:exon19:c.T1749G:p.P583P;	1.0732864665364E-4	0.014
18	56031566	G	A	18	58364334	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1833+1G>A;NM_001243960:exon18:c.1641+1G>A;NM_015277:exon19:c.1773+1G>A;NM_001144964:exon20:c.1470+1G>A;NM_001144968:exon20:c.1809+1G>A;NM_001144965:exon20:c.1470+1G>A;NM_001144971:exon20:c.1410+1G>A;NM_001144969:exon19:c.1749+1G>A;NM_001144970:exon18:c.1410+1G>A;NM_001144966:exon19:c.1470+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1641+1G>A;ENST00000400345:exon20:c.1833+1G>A;ENST00000256832:exon20:c.1413+1G>A;ENST00000382850:exon19:c.1773+1G>A;ENST00000256830:exon17:c.1521+1G>A;ENST00000456986:exon20:c.1470+1G>A;ENST00000357895:exon20:c.1809+1G>A;ENST00000435432:exon20:c.1410+1G>A;ENST00000586263:exon19:c.1749+1G>A;ENST00000456173:exon18:c.1410+1G>A;ENST00000431212:exon19:c.1470+1G>A;ENST00000587881:exon9:c.825+1G>A)	.	.	0.999990361384395	0.938
18	56031566	G	C	18	58364334	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1833+1G>C;NM_001243960:exon18:c.1641+1G>C;NM_015277:exon19:c.1773+1G>C;NM_001144964:exon20:c.1470+1G>C;NM_001144968:exon20:c.1809+1G>C;NM_001144965:exon20:c.1470+1G>C;NM_001144971:exon20:c.1410+1G>C;NM_001144969:exon19:c.1749+1G>C;NM_001144970:exon18:c.1410+1G>C;NM_001144966:exon19:c.1470+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1641+1G>C;ENST00000400345:exon20:c.1833+1G>C;ENST00000256832:exon20:c.1413+1G>C;ENST00000382850:exon19:c.1773+1G>C;ENST00000256830:exon17:c.1521+1G>C;ENST00000456986:exon20:c.1470+1G>C;ENST00000357895:exon20:c.1809+1G>C;ENST00000435432:exon20:c.1410+1G>C;ENST00000586263:exon19:c.1749+1G>C;ENST00000456173:exon18:c.1410+1G>C;ENST00000431212:exon19:c.1470+1G>C;ENST00000587881:exon9:c.825+1G>C)	.	.	0.999990361384395	0.938
18	56031566	G	T	18	58364334	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1833+1G>T;NM_001243960:exon18:c.1641+1G>T;NM_015277:exon19:c.1773+1G>T;NM_001144964:exon20:c.1470+1G>T;NM_001144968:exon20:c.1809+1G>T;NM_001144965:exon20:c.1470+1G>T;NM_001144971:exon20:c.1410+1G>T;NM_001144969:exon19:c.1749+1G>T;NM_001144970:exon18:c.1410+1G>T;NM_001144966:exon19:c.1470+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1641+1G>T;ENST00000400345:exon20:c.1833+1G>T;ENST00000256832:exon20:c.1413+1G>T;ENST00000382850:exon19:c.1773+1G>T;ENST00000256830:exon17:c.1521+1G>T;ENST00000456986:exon20:c.1470+1G>T;ENST00000357895:exon20:c.1809+1G>T;ENST00000435432:exon20:c.1410+1G>T;ENST00000586263:exon19:c.1749+1G>T;ENST00000456173:exon18:c.1410+1G>T;ENST00000431212:exon19:c.1470+1G>T;ENST00000587881:exon9:c.825+1G>T)	.	.	0.999990361384395	0.938
18	56031567	T	A	18	58364335	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1833+2T>A;NM_001243960:exon18:c.1641+2T>A;NM_015277:exon19:c.1773+2T>A;NM_001144964:exon20:c.1470+2T>A;NM_001144968:exon20:c.1809+2T>A;NM_001144965:exon20:c.1470+2T>A;NM_001144971:exon20:c.1410+2T>A;NM_001144969:exon19:c.1749+2T>A;NM_001144970:exon18:c.1410+2T>A;NM_001144966:exon19:c.1470+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1641+2T>A;ENST00000400345:exon20:c.1833+2T>A;ENST00000256832:exon20:c.1413+2T>A;ENST00000382850:exon19:c.1773+2T>A;ENST00000256830:exon17:c.1521+2T>A;ENST00000456986:exon20:c.1470+2T>A;ENST00000357895:exon20:c.1809+2T>A;ENST00000435432:exon20:c.1410+2T>A;ENST00000586263:exon19:c.1749+2T>A;ENST00000456173:exon18:c.1410+2T>A;ENST00000431212:exon19:c.1470+2T>A;ENST00000587881:exon9:c.825+2T>A)	.	.	0.999988247793601	0.93
18	56031567	T	C	18	58364335	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1833+2T>C;NM_001243960:exon18:c.1641+2T>C;NM_015277:exon19:c.1773+2T>C;NM_001144964:exon20:c.1470+2T>C;NM_001144968:exon20:c.1809+2T>C;NM_001144965:exon20:c.1470+2T>C;NM_001144971:exon20:c.1410+2T>C;NM_001144969:exon19:c.1749+2T>C;NM_001144970:exon18:c.1410+2T>C;NM_001144966:exon19:c.1470+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1641+2T>C;ENST00000400345:exon20:c.1833+2T>C;ENST00000256832:exon20:c.1413+2T>C;ENST00000382850:exon19:c.1773+2T>C;ENST00000256830:exon17:c.1521+2T>C;ENST00000456986:exon20:c.1470+2T>C;ENST00000357895:exon20:c.1809+2T>C;ENST00000435432:exon20:c.1410+2T>C;ENST00000586263:exon19:c.1749+2T>C;ENST00000456173:exon18:c.1410+2T>C;ENST00000431212:exon19:c.1470+2T>C;ENST00000587881:exon9:c.825+2T>C)	.	.	0.999947347905381	0.864
18	56031567	T	G	18	58364335	y	y	splicing	NEDD4L(NM_001144967:exon20:c.1833+2T>G;NM_001243960:exon18:c.1641+2T>G;NM_015277:exon19:c.1773+2T>G;NM_001144964:exon20:c.1470+2T>G;NM_001144968:exon20:c.1809+2T>G;NM_001144965:exon20:c.1470+2T>G;NM_001144971:exon20:c.1410+2T>G;NM_001144969:exon19:c.1749+2T>G;NM_001144970:exon18:c.1410+2T>G;NM_001144966:exon19:c.1470+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon18:c.1641+2T>G;ENST00000400345:exon20:c.1833+2T>G;ENST00000256832:exon20:c.1413+2T>G;ENST00000382850:exon19:c.1773+2T>G;ENST00000256830:exon17:c.1521+2T>G;ENST00000456986:exon20:c.1470+2T>G;ENST00000357895:exon20:c.1809+2T>G;ENST00000435432:exon20:c.1410+2T>G;ENST00000586263:exon19:c.1749+2T>G;ENST00000456173:exon18:c.1410+2T>G;ENST00000431212:exon19:c.1470+2T>G;ENST00000587881:exon9:c.825+2T>G)	.	.	0.999988247793601	0.93
18	56031568	G	A	18	58364336	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.3824121071566E-4	0.0
18	56031568	G	C	18	58364336	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997573605938998	0.66
18	56031568	G	T	18	58364336	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99577335003252	0.574
18	56031569	A	C	18	58364337	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998781274694914	0.906
18	56031569	A	G	18	58364337	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999769921806421	0.944
18	56031569	A	T	18	58364337	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999912430822738	0.916
18	56031570	G	A	18	58364338	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999984452069182	0.998
18	56031570	G	C	18	58364338	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999985307837029	0.982
18	56031570	G	T	18	58364338	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999985307837029	0.978
18	56031571	T	A	18	58364339	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998676254259629	0.824
18	56031571	T	C	18	58364339	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998045129468448	0.966
18	56031571	T	G	18	58364339	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998701963398606	0.9
18	56031572	A	C	18	58364340	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00243483211121124	0.006
18	56031572	A	G	18	58364340	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00301463072369483	0.008
18	56031572	A	T	18	58364340	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00152504357902312	0.018
18	56031573	A	C	18	58364341	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.40883411930397E-4	0.004
18	56031573	A	G	18	58364341	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.36647886088347E-4	0.004
18	56031573	A	T	18	58364341	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.40883411930397E-4	0.006
18	56033219	T	A	18	58365987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.274674632056814	0.494
18	56033219	T	C	18	58365987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.82716657515147E-5	0.04
18	56033219	T	G	18	58365987	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0400135804388508	0.502
18	56033220	C	A	18	58365988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.53026578498516E-5	0.006
18	56033220	C	G	18	58365988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.86176152028869E-5	0.004
18	56033220	C	T	18	58365988	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.80248286061925E-5	0.002
18	56033221	T	A	18	58365989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00761730843558617	0.23
18	56033221	T	C	18	58365989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.20694071432082E-4	0.012
18	56033221	T	G	18	58365989	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00497892724837523	0.238
18	56033222	T	A	18	58365990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.04979220319097E-4	0.052
18	56033222	T	C	18	58365990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.41274674870025E-5	0.0
18	56033222	T	G	18	58365990	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.89992135238695E-4	0.06
18	56033223	T	A	18	58365991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00200584171691006	0.37
18	56033223	T	C	18	58365991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.21326063423419E-5	0.0
18	56033223	T	G	18	58365991	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.93433430598116E-4	0.27
18	56033224	T	A	18	58365992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.959466972005688	0.972
18	56033224	T	C	18	58365992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.74082642720972E-5	0.0
18	56033224	T	G	18	58365992	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.97436406353517E-4	0.03
18	56033225	G	A	18	58365993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.07440646341435E-5	0.004
18	56033225	G	C	18	58365993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.15612575949039E-5	0.0
18	56033225	G	T	18	58365993	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.22164310176047E-5	0.0
18	56033226	T	A	18	58365994	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997986432420778	0.784
18	56033226	T	C	18	58365994	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.39973881896764E-4	0.02
18	56033226	T	G	18	58365994	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.199514219872691	0.37
18	56033227	G	A	18	58365995	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.18659071242014E-4	0.004
18	56033227	G	C	18	58365995	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.5114675873678E-5	0.008
18	56033227	G	T	18	58365995	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.52138567729342E-5	0.004
18	56033228	T	A	18	58365996	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00503696469718852	0.168
18	56033228	T	C	18	58365996	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.27225988042763E-5	0.018
18	56033228	T	G	18	58365996	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996110127542103	0.652
18	56033229	A	C	18	58365997	y	y	splicing	NEDD4L(NM_001144967:exon21:c.1834-2A>C;NM_001243960:exon19:c.1642-2A>C;NM_015277:exon20:c.1774-2A>C;NM_001144964:exon21:c.1471-2A>C;NM_001144968:exon21:c.1810-2A>C;NM_001144965:exon21:c.1471-2A>C;NM_001144971:exon21:c.1411-2A>C;NM_001144969:exon20:c.1750-2A>C;NM_001144970:exon19:c.1411-2A>C;NM_001144966:exon20:c.1471-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1642-2A>C;ENST00000400345:exon21:c.1834-2A>C;ENST00000256832:exon21:c.1414-2A>C;ENST00000382850:exon20:c.1774-2A>C;ENST00000256830:exon18:c.1522-2A>C;ENST00000456986:exon21:c.1471-2A>C;ENST00000357895:exon21:c.1810-2A>C;ENST00000435432:exon21:c.1411-2A>C;ENST00000586263:exon20:c.1750-2A>C;ENST00000456173:exon19:c.1411-2A>C;ENST00000431212:exon20:c.1471-2A>C;ENST00000587881:exon10:c.826-2A>C)	.	.	0.999929788044964	0.9
18	56033229	A	G	18	58365997	y	y	splicing	NEDD4L(NM_001144967:exon21:c.1834-2A>G;NM_001243960:exon19:c.1642-2A>G;NM_015277:exon20:c.1774-2A>G;NM_001144964:exon21:c.1471-2A>G;NM_001144968:exon21:c.1810-2A>G;NM_001144965:exon21:c.1471-2A>G;NM_001144971:exon21:c.1411-2A>G;NM_001144969:exon20:c.1750-2A>G;NM_001144970:exon19:c.1411-2A>G;NM_001144966:exon20:c.1471-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1642-2A>G;ENST00000400345:exon21:c.1834-2A>G;ENST00000256832:exon21:c.1414-2A>G;ENST00000382850:exon20:c.1774-2A>G;ENST00000256830:exon18:c.1522-2A>G;ENST00000456986:exon21:c.1471-2A>G;ENST00000357895:exon21:c.1810-2A>G;ENST00000435432:exon21:c.1411-2A>G;ENST00000586263:exon20:c.1750-2A>G;ENST00000456173:exon19:c.1411-2A>G;ENST00000431212:exon20:c.1471-2A>G;ENST00000587881:exon10:c.826-2A>G)	.	.	0.999929788044964	0.9
18	56033229	A	T	18	58365997	y	y	splicing	NEDD4L(NM_001144967:exon21:c.1834-2A>T;NM_001243960:exon19:c.1642-2A>T;NM_015277:exon20:c.1774-2A>T;NM_001144964:exon21:c.1471-2A>T;NM_001144968:exon21:c.1810-2A>T;NM_001144965:exon21:c.1471-2A>T;NM_001144971:exon21:c.1411-2A>T;NM_001144969:exon20:c.1750-2A>T;NM_001144970:exon19:c.1411-2A>T;NM_001144966:exon20:c.1471-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1642-2A>T;ENST00000400345:exon21:c.1834-2A>T;ENST00000256832:exon21:c.1414-2A>T;ENST00000382850:exon20:c.1774-2A>T;ENST00000256830:exon18:c.1522-2A>T;ENST00000456986:exon21:c.1471-2A>T;ENST00000357895:exon21:c.1810-2A>T;ENST00000435432:exon21:c.1411-2A>T;ENST00000586263:exon20:c.1750-2A>T;ENST00000456173:exon19:c.1411-2A>T;ENST00000431212:exon20:c.1471-2A>T;ENST00000587881:exon10:c.826-2A>T)	.	.	0.999942538081223	0.902
18	56033230	G	A	18	58365998	y	y	splicing	NEDD4L(NM_001144967:exon21:c.1834-1G>A;NM_001243960:exon19:c.1642-1G>A;NM_015277:exon20:c.1774-1G>A;NM_001144964:exon21:c.1471-1G>A;NM_001144968:exon21:c.1810-1G>A;NM_001144965:exon21:c.1471-1G>A;NM_001144971:exon21:c.1411-1G>A;NM_001144969:exon20:c.1750-1G>A;NM_001144970:exon19:c.1411-1G>A;NM_001144966:exon20:c.1471-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1642-1G>A;ENST00000400345:exon21:c.1834-1G>A;ENST00000256832:exon21:c.1414-1G>A;ENST00000382850:exon20:c.1774-1G>A;ENST00000256830:exon18:c.1522-1G>A;ENST00000456986:exon21:c.1471-1G>A;ENST00000357895:exon21:c.1810-1G>A;ENST00000435432:exon21:c.1411-1G>A;ENST00000586263:exon20:c.1750-1G>A;ENST00000456173:exon19:c.1411-1G>A;ENST00000431212:exon20:c.1471-1G>A;ENST00000587881:exon10:c.826-1G>A)	.	.	0.999990361384395	0.938
18	56033230	G	C	18	58365998	y	y	splicing	NEDD4L(NM_001144967:exon21:c.1834-1G>C;NM_001243960:exon19:c.1642-1G>C;NM_015277:exon20:c.1774-1G>C;NM_001144964:exon21:c.1471-1G>C;NM_001144968:exon21:c.1810-1G>C;NM_001144965:exon21:c.1471-1G>C;NM_001144971:exon21:c.1411-1G>C;NM_001144969:exon20:c.1750-1G>C;NM_001144970:exon19:c.1411-1G>C;NM_001144966:exon20:c.1471-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1642-1G>C;ENST00000400345:exon21:c.1834-1G>C;ENST00000256832:exon21:c.1414-1G>C;ENST00000382850:exon20:c.1774-1G>C;ENST00000256830:exon18:c.1522-1G>C;ENST00000456986:exon21:c.1471-1G>C;ENST00000357895:exon21:c.1810-1G>C;ENST00000435432:exon21:c.1411-1G>C;ENST00000586263:exon20:c.1750-1G>C;ENST00000456173:exon19:c.1411-1G>C;ENST00000431212:exon20:c.1471-1G>C;ENST00000587881:exon10:c.826-1G>C)	.	.	0.999990361384395	0.938
18	56033230	G	T	18	58365998	y	y	splicing	NEDD4L(NM_001144967:exon21:c.1834-1G>T;NM_001243960:exon19:c.1642-1G>T;NM_015277:exon20:c.1774-1G>T;NM_001144964:exon21:c.1471-1G>T;NM_001144968:exon21:c.1810-1G>T;NM_001144965:exon21:c.1471-1G>T;NM_001144971:exon21:c.1411-1G>T;NM_001144969:exon20:c.1750-1G>T;NM_001144970:exon19:c.1411-1G>T;NM_001144966:exon20:c.1471-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1642-1G>T;ENST00000400345:exon21:c.1834-1G>T;ENST00000256832:exon21:c.1414-1G>T;ENST00000382850:exon20:c.1774-1G>T;ENST00000256830:exon18:c.1522-1G>T;ENST00000456986:exon21:c.1471-1G>T;ENST00000357895:exon21:c.1810-1G>T;ENST00000435432:exon21:c.1411-1G>T;ENST00000586263:exon20:c.1750-1G>T;ENST00000456173:exon19:c.1411-1G>T;ENST00000431212:exon20:c.1471-1G>T;ENST00000587881:exon10:c.826-1G>T)	.	.	0.999990361384395	0.938
18	56033231	G	A	18	58365999	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.G1750A:p.A584T;NEDD4L:NM_001144964:exon21:c.G1471A:p.A491T;NEDD4L:NM_015277:exon20:c.G1774A:p.A592T;NEDD4L:NM_001144967:exon21:c.G1834A:p.A612T;NEDD4L:NM_001144971:exon21:c.G1411A:p.A471T;NEDD4L:NM_001144968:exon21:c.G1810A:p.A604T;NEDD4L:NM_001144970:exon19:c.G1411A:p.A471T;NEDD4L:NM_001144965:exon21:c.G1471A:p.A491T;NEDD4L:NM_001144966:exon20:c.G1471A:p.A491T;NEDD4L:NM_001243960:exon19:c.G1642A:p.A548T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.G826A:p.A276T;ENSG00000049759:ENST00000435432:exon21:c.G1411A:p.A471T;ENSG00000049759:ENST00000382850:exon20:c.G1774A:p.A592T;ENSG00000049759:ENST00000456986:exon21:c.G1471A:p.A491T;ENSG00000049759:ENST00000256830:exon18:c.G1522A:p.A508T;ENSG00000049759:ENST00000456173:exon19:c.G1411A:p.A471T;ENSG00000049759:ENST00000357895:exon21:c.G1810A:p.A604T;ENSG00000049759:ENST00000256832:exon21:c.G1414A:p.A472T;ENSG00000049759:ENST00000431212:exon20:c.G1471A:p.A491T;ENSG00000049759:ENST00000356462:exon19:c.G1642A:p.A548T;ENSG00000049759:ENST00000400345:exon21:c.G1834A:p.A612T;ENSG00000049759:ENST00000586263:exon20:c.G1750A:p.A584T;	0.997509598436895	0.754
18	56033231	G	C	18	58365999	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.G1750C:p.A584P;NEDD4L:NM_001144964:exon21:c.G1471C:p.A491P;NEDD4L:NM_015277:exon20:c.G1774C:p.A592P;NEDD4L:NM_001144967:exon21:c.G1834C:p.A612P;NEDD4L:NM_001144971:exon21:c.G1411C:p.A471P;NEDD4L:NM_001144968:exon21:c.G1810C:p.A604P;NEDD4L:NM_001144970:exon19:c.G1411C:p.A471P;NEDD4L:NM_001144965:exon21:c.G1471C:p.A491P;NEDD4L:NM_001144966:exon20:c.G1471C:p.A491P;NEDD4L:NM_001243960:exon19:c.G1642C:p.A548P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.G826C:p.A276P;ENSG00000049759:ENST00000435432:exon21:c.G1411C:p.A471P;ENSG00000049759:ENST00000382850:exon20:c.G1774C:p.A592P;ENSG00000049759:ENST00000456986:exon21:c.G1471C:p.A491P;ENSG00000049759:ENST00000256830:exon18:c.G1522C:p.A508P;ENSG00000049759:ENST00000456173:exon19:c.G1411C:p.A471P;ENSG00000049759:ENST00000357895:exon21:c.G1810C:p.A604P;ENSG00000049759:ENST00000256832:exon21:c.G1414C:p.A472P;ENSG00000049759:ENST00000431212:exon20:c.G1471C:p.A491P;ENSG00000049759:ENST00000356462:exon19:c.G1642C:p.A548P;ENSG00000049759:ENST00000400345:exon21:c.G1834C:p.A612P;ENSG00000049759:ENST00000586263:exon20:c.G1750C:p.A584P;	0.99979396875796	0.874
18	56033231	G	T	18	58365999	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.G1750T:p.A584S;NEDD4L:NM_001144964:exon21:c.G1471T:p.A491S;NEDD4L:NM_015277:exon20:c.G1774T:p.A592S;NEDD4L:NM_001144967:exon21:c.G1834T:p.A612S;NEDD4L:NM_001144971:exon21:c.G1411T:p.A471S;NEDD4L:NM_001144968:exon21:c.G1810T:p.A604S;NEDD4L:NM_001144970:exon19:c.G1411T:p.A471S;NEDD4L:NM_001144965:exon21:c.G1471T:p.A491S;NEDD4L:NM_001144966:exon20:c.G1471T:p.A491S;NEDD4L:NM_001243960:exon19:c.G1642T:p.A548S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.G826T:p.A276S;ENSG00000049759:ENST00000435432:exon21:c.G1411T:p.A471S;ENSG00000049759:ENST00000382850:exon20:c.G1774T:p.A592S;ENSG00000049759:ENST00000456986:exon21:c.G1471T:p.A491S;ENSG00000049759:ENST00000256830:exon18:c.G1522T:p.A508S;ENSG00000049759:ENST00000456173:exon19:c.G1411T:p.A471S;ENSG00000049759:ENST00000357895:exon21:c.G1810T:p.A604S;ENSG00000049759:ENST00000256832:exon21:c.G1414T:p.A472S;ENSG00000049759:ENST00000431212:exon20:c.G1471T:p.A491S;ENSG00000049759:ENST00000356462:exon19:c.G1642T:p.A548S;ENSG00000049759:ENST00000400345:exon21:c.G1834T:p.A612S;ENSG00000049759:ENST00000586263:exon20:c.G1750T:p.A584S;	0.998963015611162	0.894
18	56033232	C	A	18	58366000	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.C1751A:p.A584D;NEDD4L:NM_001144964:exon21:c.C1472A:p.A491D;NEDD4L:NM_015277:exon20:c.C1775A:p.A592D;NEDD4L:NM_001144967:exon21:c.C1835A:p.A612D;NEDD4L:NM_001144971:exon21:c.C1412A:p.A471D;NEDD4L:NM_001144968:exon21:c.C1811A:p.A604D;NEDD4L:NM_001144970:exon19:c.C1412A:p.A471D;NEDD4L:NM_001144965:exon21:c.C1472A:p.A491D;NEDD4L:NM_001144966:exon20:c.C1472A:p.A491D;NEDD4L:NM_001243960:exon19:c.C1643A:p.A548D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C827A:p.A276D;ENSG00000049759:ENST00000435432:exon21:c.C1412A:p.A471D;ENSG00000049759:ENST00000382850:exon20:c.C1775A:p.A592D;ENSG00000049759:ENST00000456986:exon21:c.C1472A:p.A491D;ENSG00000049759:ENST00000256830:exon18:c.C1523A:p.A508D;ENSG00000049759:ENST00000456173:exon19:c.C1412A:p.A471D;ENSG00000049759:ENST00000357895:exon21:c.C1811A:p.A604D;ENSG00000049759:ENST00000256832:exon21:c.C1415A:p.A472D;ENSG00000049759:ENST00000431212:exon20:c.C1472A:p.A491D;ENSG00000049759:ENST00000356462:exon19:c.C1643A:p.A548D;ENSG00000049759:ENST00000400345:exon21:c.C1835A:p.A612D;ENSG00000049759:ENST00000586263:exon20:c.C1751A:p.A584D;	0.993733916693694	0.736
18	56033232	C	G	18	58366000	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.C1751G:p.A584G;NEDD4L:NM_001144964:exon21:c.C1472G:p.A491G;NEDD4L:NM_015277:exon20:c.C1775G:p.A592G;NEDD4L:NM_001144967:exon21:c.C1835G:p.A612G;NEDD4L:NM_001144971:exon21:c.C1412G:p.A471G;NEDD4L:NM_001144968:exon21:c.C1811G:p.A604G;NEDD4L:NM_001144970:exon19:c.C1412G:p.A471G;NEDD4L:NM_001144965:exon21:c.C1472G:p.A491G;NEDD4L:NM_001144966:exon20:c.C1472G:p.A491G;NEDD4L:NM_001243960:exon19:c.C1643G:p.A548G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C827G:p.A276G;ENSG00000049759:ENST00000435432:exon21:c.C1412G:p.A471G;ENSG00000049759:ENST00000382850:exon20:c.C1775G:p.A592G;ENSG00000049759:ENST00000456986:exon21:c.C1472G:p.A491G;ENSG00000049759:ENST00000256830:exon18:c.C1523G:p.A508G;ENSG00000049759:ENST00000456173:exon19:c.C1412G:p.A471G;ENSG00000049759:ENST00000357895:exon21:c.C1811G:p.A604G;ENSG00000049759:ENST00000256832:exon21:c.C1415G:p.A472G;ENSG00000049759:ENST00000431212:exon20:c.C1472G:p.A491G;ENSG00000049759:ENST00000356462:exon19:c.C1643G:p.A548G;ENSG00000049759:ENST00000400345:exon21:c.C1835G:p.A612G;ENSG00000049759:ENST00000586263:exon20:c.C1751G:p.A584G;	0.98649406202332	0.688
18	56033232	C	T	18	58366000	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.C1751T:p.A584V;NEDD4L:NM_001144964:exon21:c.C1472T:p.A491V;NEDD4L:NM_015277:exon20:c.C1775T:p.A592V;NEDD4L:NM_001144967:exon21:c.C1835T:p.A612V;NEDD4L:NM_001144971:exon21:c.C1412T:p.A471V;NEDD4L:NM_001144968:exon21:c.C1811T:p.A604V;NEDD4L:NM_001144970:exon19:c.C1412T:p.A471V;NEDD4L:NM_001144965:exon21:c.C1472T:p.A491V;NEDD4L:NM_001144966:exon20:c.C1472T:p.A491V;NEDD4L:NM_001243960:exon19:c.C1643T:p.A548V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C827T:p.A276V;ENSG00000049759:ENST00000435432:exon21:c.C1412T:p.A471V;ENSG00000049759:ENST00000382850:exon20:c.C1775T:p.A592V;ENSG00000049759:ENST00000456986:exon21:c.C1472T:p.A491V;ENSG00000049759:ENST00000256830:exon18:c.C1523T:p.A508V;ENSG00000049759:ENST00000456173:exon19:c.C1412T:p.A471V;ENSG00000049759:ENST00000357895:exon21:c.C1811T:p.A604V;ENSG00000049759:ENST00000256832:exon21:c.C1415T:p.A472V;ENSG00000049759:ENST00000431212:exon20:c.C1472T:p.A491V;ENSG00000049759:ENST00000356462:exon19:c.C1643T:p.A548V;ENSG00000049759:ENST00000400345:exon21:c.C1835T:p.A612V;ENSG00000049759:ENST00000586263:exon20:c.C1751T:p.A584V;	0.975945835584243	0.806
18	56033458	C	A	18	58366226	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon20:c.C1977A:p.A659A;NEDD4L:NM_001144964:exon21:c.C1698A:p.A566A;NEDD4L:NM_015277:exon20:c.C2001A:p.A667A;NEDD4L:NM_001144967:exon21:c.C2061A:p.A687A;NEDD4L:NM_001144971:exon21:c.C1638A:p.A546A;NEDD4L:NM_001144968:exon21:c.C2037A:p.A679A;NEDD4L:NM_001144970:exon19:c.C1638A:p.A546A;NEDD4L:NM_001144965:exon21:c.C1698A:p.A566A;NEDD4L:NM_001144966:exon20:c.C1698A:p.A566A;NEDD4L:NM_001243960:exon19:c.C1869A:p.A623A;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C1053A:p.A351A;ENSG00000049759:ENST00000435432:exon21:c.C1638A:p.A546A;ENSG00000049759:ENST00000382850:exon20:c.C2001A:p.A667A;ENSG00000049759:ENST00000456986:exon21:c.C1698A:p.A566A;ENSG00000049759:ENST00000256830:exon18:c.C1749A:p.A583A;ENSG00000049759:ENST00000456173:exon19:c.C1638A:p.A546A;ENSG00000049759:ENST00000357895:exon21:c.C2037A:p.A679A;ENSG00000049759:ENST00000256832:exon21:c.C1641A:p.A547A;ENSG00000049759:ENST00000431212:exon20:c.C1698A:p.A566A;ENSG00000049759:ENST00000356462:exon19:c.C1869A:p.A623A;ENSG00000049759:ENST00000400345:exon21:c.C2061A:p.A687A;ENSG00000049759:ENST00000586263:exon20:c.C1977A:p.A659A;	7.76094720834843E-5	0.014
18	56033458	C	G	18	58366226	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon20:c.C1977G:p.A659A;NEDD4L:NM_001144964:exon21:c.C1698G:p.A566A;NEDD4L:NM_015277:exon20:c.C2001G:p.A667A;NEDD4L:NM_001144967:exon21:c.C2061G:p.A687A;NEDD4L:NM_001144971:exon21:c.C1638G:p.A546A;NEDD4L:NM_001144968:exon21:c.C2037G:p.A679A;NEDD4L:NM_001144970:exon19:c.C1638G:p.A546A;NEDD4L:NM_001144965:exon21:c.C1698G:p.A566A;NEDD4L:NM_001144966:exon20:c.C1698G:p.A566A;NEDD4L:NM_001243960:exon19:c.C1869G:p.A623A;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C1053G:p.A351A;ENSG00000049759:ENST00000435432:exon21:c.C1638G:p.A546A;ENSG00000049759:ENST00000382850:exon20:c.C2001G:p.A667A;ENSG00000049759:ENST00000456986:exon21:c.C1698G:p.A566A;ENSG00000049759:ENST00000256830:exon18:c.C1749G:p.A583A;ENSG00000049759:ENST00000456173:exon19:c.C1638G:p.A546A;ENSG00000049759:ENST00000357895:exon21:c.C2037G:p.A679A;ENSG00000049759:ENST00000256832:exon21:c.C1641G:p.A547A;ENSG00000049759:ENST00000431212:exon20:c.C1698G:p.A566A;ENSG00000049759:ENST00000356462:exon19:c.C1869G:p.A623A;ENSG00000049759:ENST00000400345:exon21:c.C2061G:p.A687A;ENSG00000049759:ENST00000586263:exon20:c.C1977G:p.A659A;	2.94166189405471E-5	0.008
18	56033458	C	T	18	58366226	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon20:c.C1977T:p.A659A;NEDD4L:NM_001144964:exon21:c.C1698T:p.A566A;NEDD4L:NM_015277:exon20:c.C2001T:p.A667A;NEDD4L:NM_001144967:exon21:c.C2061T:p.A687A;NEDD4L:NM_001144971:exon21:c.C1638T:p.A546A;NEDD4L:NM_001144968:exon21:c.C2037T:p.A679A;NEDD4L:NM_001144970:exon19:c.C1638T:p.A546A;NEDD4L:NM_001144965:exon21:c.C1698T:p.A566A;NEDD4L:NM_001144966:exon20:c.C1698T:p.A566A;NEDD4L:NM_001243960:exon19:c.C1869T:p.A623A;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C1053T:p.A351A;ENSG00000049759:ENST00000435432:exon21:c.C1638T:p.A546A;ENSG00000049759:ENST00000382850:exon20:c.C2001T:p.A667A;ENSG00000049759:ENST00000456986:exon21:c.C1698T:p.A566A;ENSG00000049759:ENST00000256830:exon18:c.C1749T:p.A583A;ENSG00000049759:ENST00000456173:exon19:c.C1638T:p.A546A;ENSG00000049759:ENST00000357895:exon21:c.C2037T:p.A679A;ENSG00000049759:ENST00000256832:exon21:c.C1641T:p.A547A;ENSG00000049759:ENST00000431212:exon20:c.C1698T:p.A566A;ENSG00000049759:ENST00000356462:exon19:c.C1869T:p.A623A;ENSG00000049759:ENST00000400345:exon21:c.C2061T:p.A687A;ENSG00000049759:ENST00000586263:exon20:c.C1977T:p.A659A;	2.13681487384503E-4	0.036
18	56033459	A	C	18	58366227	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.A1978C:p.T660P;NEDD4L:NM_001144964:exon21:c.A1699C:p.T567P;NEDD4L:NM_015277:exon20:c.A2002C:p.T668P;NEDD4L:NM_001144967:exon21:c.A2062C:p.T688P;NEDD4L:NM_001144971:exon21:c.A1639C:p.T547P;NEDD4L:NM_001144968:exon21:c.A2038C:p.T680P;NEDD4L:NM_001144970:exon19:c.A1639C:p.T547P;NEDD4L:NM_001144965:exon21:c.A1699C:p.T567P;NEDD4L:NM_001144966:exon20:c.A1699C:p.T567P;NEDD4L:NM_001243960:exon19:c.A1870C:p.T624P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.A1054C:p.T352P;ENSG00000049759:ENST00000435432:exon21:c.A1639C:p.T547P;ENSG00000049759:ENST00000382850:exon20:c.A2002C:p.T668P;ENSG00000049759:ENST00000456986:exon21:c.A1699C:p.T567P;ENSG00000049759:ENST00000256830:exon18:c.A1750C:p.T584P;ENSG00000049759:ENST00000456173:exon19:c.A1639C:p.T547P;ENSG00000049759:ENST00000357895:exon21:c.A2038C:p.T680P;ENSG00000049759:ENST00000256832:exon21:c.A1642C:p.T548P;ENSG00000049759:ENST00000431212:exon20:c.A1699C:p.T567P;ENSG00000049759:ENST00000356462:exon19:c.A1870C:p.T624P;ENSG00000049759:ENST00000400345:exon21:c.A2062C:p.T688P;ENSG00000049759:ENST00000586263:exon20:c.A1978C:p.T660P;	0.993889646221185	0.944
18	56033459	A	G	18	58366227	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.A1978G:p.T660A;NEDD4L:NM_001144964:exon21:c.A1699G:p.T567A;NEDD4L:NM_015277:exon20:c.A2002G:p.T668A;NEDD4L:NM_001144967:exon21:c.A2062G:p.T688A;NEDD4L:NM_001144971:exon21:c.A1639G:p.T547A;NEDD4L:NM_001144968:exon21:c.A2038G:p.T680A;NEDD4L:NM_001144970:exon19:c.A1639G:p.T547A;NEDD4L:NM_001144965:exon21:c.A1699G:p.T567A;NEDD4L:NM_001144966:exon20:c.A1699G:p.T567A;NEDD4L:NM_001243960:exon19:c.A1870G:p.T624A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.A1054G:p.T352A;ENSG00000049759:ENST00000435432:exon21:c.A1639G:p.T547A;ENSG00000049759:ENST00000382850:exon20:c.A2002G:p.T668A;ENSG00000049759:ENST00000456986:exon21:c.A1699G:p.T567A;ENSG00000049759:ENST00000256830:exon18:c.A1750G:p.T584A;ENSG00000049759:ENST00000456173:exon19:c.A1639G:p.T547A;ENSG00000049759:ENST00000357895:exon21:c.A2038G:p.T680A;ENSG00000049759:ENST00000256832:exon21:c.A1642G:p.T548A;ENSG00000049759:ENST00000431212:exon20:c.A1699G:p.T567A;ENSG00000049759:ENST00000356462:exon19:c.A1870G:p.T624A;ENSG00000049759:ENST00000400345:exon21:c.A2062G:p.T688A;ENSG00000049759:ENST00000586263:exon20:c.A1978G:p.T660A;	0.989420291163071	0.884
18	56033459	A	T	18	58366227	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.A1978T:p.T660S;NEDD4L:NM_001144964:exon21:c.A1699T:p.T567S;NEDD4L:NM_015277:exon20:c.A2002T:p.T668S;NEDD4L:NM_001144967:exon21:c.A2062T:p.T688S;NEDD4L:NM_001144971:exon21:c.A1639T:p.T547S;NEDD4L:NM_001144968:exon21:c.A2038T:p.T680S;NEDD4L:NM_001144970:exon19:c.A1639T:p.T547S;NEDD4L:NM_001144965:exon21:c.A1699T:p.T567S;NEDD4L:NM_001144966:exon20:c.A1699T:p.T567S;NEDD4L:NM_001243960:exon19:c.A1870T:p.T624S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.A1054T:p.T352S;ENSG00000049759:ENST00000435432:exon21:c.A1639T:p.T547S;ENSG00000049759:ENST00000382850:exon20:c.A2002T:p.T668S;ENSG00000049759:ENST00000456986:exon21:c.A1699T:p.T567S;ENSG00000049759:ENST00000256830:exon18:c.A1750T:p.T584S;ENSG00000049759:ENST00000456173:exon19:c.A1639T:p.T547S;ENSG00000049759:ENST00000357895:exon21:c.A2038T:p.T680S;ENSG00000049759:ENST00000256832:exon21:c.A1642T:p.T548S;ENSG00000049759:ENST00000431212:exon20:c.A1699T:p.T567S;ENSG00000049759:ENST00000356462:exon19:c.A1870T:p.T624S;ENSG00000049759:ENST00000400345:exon21:c.A2062T:p.T688S;ENSG00000049759:ENST00000586263:exon20:c.A1978T:p.T660S;	0.992024915247121	0.922
18	56033460	C	A	18	58366228	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.C1979A:p.T660K;NEDD4L:NM_001144964:exon21:c.C1700A:p.T567K;NEDD4L:NM_015277:exon20:c.C2003A:p.T668K;NEDD4L:NM_001144967:exon21:c.C2063A:p.T688K;NEDD4L:NM_001144971:exon21:c.C1640A:p.T547K;NEDD4L:NM_001144968:exon21:c.C2039A:p.T680K;NEDD4L:NM_001144970:exon19:c.C1640A:p.T547K;NEDD4L:NM_001144965:exon21:c.C1700A:p.T567K;NEDD4L:NM_001144966:exon20:c.C1700A:p.T567K;NEDD4L:NM_001243960:exon19:c.C1871A:p.T624K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C1055A:p.T352K;ENSG00000049759:ENST00000435432:exon21:c.C1640A:p.T547K;ENSG00000049759:ENST00000382850:exon20:c.C2003A:p.T668K;ENSG00000049759:ENST00000456986:exon21:c.C1700A:p.T567K;ENSG00000049759:ENST00000256830:exon18:c.C1751A:p.T584K;ENSG00000049759:ENST00000456173:exon19:c.C1640A:p.T547K;ENSG00000049759:ENST00000357895:exon21:c.C2039A:p.T680K;ENSG00000049759:ENST00000256832:exon21:c.C1643A:p.T548K;ENSG00000049759:ENST00000431212:exon20:c.C1700A:p.T567K;ENSG00000049759:ENST00000356462:exon19:c.C1871A:p.T624K;ENSG00000049759:ENST00000400345:exon21:c.C2063A:p.T688K;ENSG00000049759:ENST00000586263:exon20:c.C1979A:p.T660K;	0.973082924120244	0.826
18	56033460	C	G	18	58366228	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.C1979G:p.T660R;NEDD4L:NM_001144964:exon21:c.C1700G:p.T567R;NEDD4L:NM_015277:exon20:c.C2003G:p.T668R;NEDD4L:NM_001144967:exon21:c.C2063G:p.T688R;NEDD4L:NM_001144971:exon21:c.C1640G:p.T547R;NEDD4L:NM_001144968:exon21:c.C2039G:p.T680R;NEDD4L:NM_001144970:exon19:c.C1640G:p.T547R;NEDD4L:NM_001144965:exon21:c.C1700G:p.T567R;NEDD4L:NM_001144966:exon20:c.C1700G:p.T567R;NEDD4L:NM_001243960:exon19:c.C1871G:p.T624R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C1055G:p.T352R;ENSG00000049759:ENST00000435432:exon21:c.C1640G:p.T547R;ENSG00000049759:ENST00000382850:exon20:c.C2003G:p.T668R;ENSG00000049759:ENST00000456986:exon21:c.C1700G:p.T567R;ENSG00000049759:ENST00000256830:exon18:c.C1751G:p.T584R;ENSG00000049759:ENST00000456173:exon19:c.C1640G:p.T547R;ENSG00000049759:ENST00000357895:exon21:c.C2039G:p.T680R;ENSG00000049759:ENST00000256832:exon21:c.C1643G:p.T548R;ENSG00000049759:ENST00000431212:exon20:c.C1700G:p.T567R;ENSG00000049759:ENST00000356462:exon19:c.C1871G:p.T624R;ENSG00000049759:ENST00000400345:exon21:c.C2063G:p.T688R;ENSG00000049759:ENST00000586263:exon20:c.C1979G:p.T660R;	0.855210587423276	0.498
18	56033460	C	T	18	58366228	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon20:c.C1979T:p.T660M;NEDD4L:NM_001144964:exon21:c.C1700T:p.T567M;NEDD4L:NM_015277:exon20:c.C2003T:p.T668M;NEDD4L:NM_001144967:exon21:c.C2063T:p.T688M;NEDD4L:NM_001144971:exon21:c.C1640T:p.T547M;NEDD4L:NM_001144968:exon21:c.C2039T:p.T680M;NEDD4L:NM_001144970:exon19:c.C1640T:p.T547M;NEDD4L:NM_001144965:exon21:c.C1700T:p.T567M;NEDD4L:NM_001144966:exon20:c.C1700T:p.T567M;NEDD4L:NM_001243960:exon19:c.C1871T:p.T624M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon10:c.C1055T:p.T352M;ENSG00000049759:ENST00000435432:exon21:c.C1640T:p.T547M;ENSG00000049759:ENST00000382850:exon20:c.C2003T:p.T668M;ENSG00000049759:ENST00000456986:exon21:c.C1700T:p.T567M;ENSG00000049759:ENST00000256830:exon18:c.C1751T:p.T584M;ENSG00000049759:ENST00000456173:exon19:c.C1640T:p.T547M;ENSG00000049759:ENST00000357895:exon21:c.C2039T:p.T680M;ENSG00000049759:ENST00000256832:exon21:c.C1643T:p.T548M;ENSG00000049759:ENST00000431212:exon20:c.C1700T:p.T567M;ENSG00000049759:ENST00000356462:exon19:c.C1871T:p.T624M;ENSG00000049759:ENST00000400345:exon21:c.C2063T:p.T688M;ENSG00000049759:ENST00000586263:exon20:c.C1979T:p.T660M;	0.98426133082166	0.802
18	56033461	G	A	18	58366229	y	y	splicing	NEDD4L(NM_001144967:exon21:c.2063+1G>A;NM_001243960:exon19:c.1871+1G>A;NM_015277:exon20:c.2003+1G>A;NM_001144964:exon21:c.1700+1G>A;NM_001144968:exon21:c.2039+1G>A;NM_001144965:exon21:c.1700+1G>A;NM_001144971:exon21:c.1640+1G>A;NM_001144969:exon20:c.1979+1G>A;NM_001144970:exon19:c.1640+1G>A;NM_001144966:exon20:c.1700+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1871+1G>A;ENST00000400345:exon21:c.2063+1G>A;ENST00000256832:exon21:c.1643+1G>A;ENST00000382850:exon20:c.2003+1G>A;ENST00000256830:exon18:c.1751+1G>A;ENST00000456986:exon21:c.1700+1G>A;ENST00000357895:exon21:c.2039+1G>A;ENST00000435432:exon21:c.1640+1G>A;ENST00000586263:exon20:c.1979+1G>A;ENST00000456173:exon19:c.1640+1G>A;ENST00000431212:exon20:c.1700+1G>A;ENST00000587881:exon10:c.1055+1G>A)	.	.	0.999990361384395	0.938
18	56033461	G	C	18	58366229	y	y	splicing	NEDD4L(NM_001144967:exon21:c.2063+1G>C;NM_001243960:exon19:c.1871+1G>C;NM_015277:exon20:c.2003+1G>C;NM_001144964:exon21:c.1700+1G>C;NM_001144968:exon21:c.2039+1G>C;NM_001144965:exon21:c.1700+1G>C;NM_001144971:exon21:c.1640+1G>C;NM_001144969:exon20:c.1979+1G>C;NM_001144970:exon19:c.1640+1G>C;NM_001144966:exon20:c.1700+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1871+1G>C;ENST00000400345:exon21:c.2063+1G>C;ENST00000256832:exon21:c.1643+1G>C;ENST00000382850:exon20:c.2003+1G>C;ENST00000256830:exon18:c.1751+1G>C;ENST00000456986:exon21:c.1700+1G>C;ENST00000357895:exon21:c.2039+1G>C;ENST00000435432:exon21:c.1640+1G>C;ENST00000586263:exon20:c.1979+1G>C;ENST00000456173:exon19:c.1640+1G>C;ENST00000431212:exon20:c.1700+1G>C;ENST00000587881:exon10:c.1055+1G>C)	.	.	0.999990361384395	0.938
18	56033461	G	T	18	58366229	y	y	splicing	NEDD4L(NM_001144967:exon21:c.2063+1G>T;NM_001243960:exon19:c.1871+1G>T;NM_015277:exon20:c.2003+1G>T;NM_001144964:exon21:c.1700+1G>T;NM_001144968:exon21:c.2039+1G>T;NM_001144965:exon21:c.1700+1G>T;NM_001144971:exon21:c.1640+1G>T;NM_001144969:exon20:c.1979+1G>T;NM_001144970:exon19:c.1640+1G>T;NM_001144966:exon20:c.1700+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1871+1G>T;ENST00000400345:exon21:c.2063+1G>T;ENST00000256832:exon21:c.1643+1G>T;ENST00000382850:exon20:c.2003+1G>T;ENST00000256830:exon18:c.1751+1G>T;ENST00000456986:exon21:c.1700+1G>T;ENST00000357895:exon21:c.2039+1G>T;ENST00000435432:exon21:c.1640+1G>T;ENST00000586263:exon20:c.1979+1G>T;ENST00000456173:exon19:c.1640+1G>T;ENST00000431212:exon20:c.1700+1G>T;ENST00000587881:exon10:c.1055+1G>T)	.	.	0.999990361384395	0.938
18	56033462	T	A	18	58366230	y	y	splicing	NEDD4L(NM_001144967:exon21:c.2063+2T>A;NM_001243960:exon19:c.1871+2T>A;NM_015277:exon20:c.2003+2T>A;NM_001144964:exon21:c.1700+2T>A;NM_001144968:exon21:c.2039+2T>A;NM_001144965:exon21:c.1700+2T>A;NM_001144971:exon21:c.1640+2T>A;NM_001144969:exon20:c.1979+2T>A;NM_001144970:exon19:c.1640+2T>A;NM_001144966:exon20:c.1700+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1871+2T>A;ENST00000400345:exon21:c.2063+2T>A;ENST00000256832:exon21:c.1643+2T>A;ENST00000382850:exon20:c.2003+2T>A;ENST00000256830:exon18:c.1751+2T>A;ENST00000456986:exon21:c.1700+2T>A;ENST00000357895:exon21:c.2039+2T>A;ENST00000435432:exon21:c.1640+2T>A;ENST00000586263:exon20:c.1979+2T>A;ENST00000456173:exon19:c.1640+2T>A;ENST00000431212:exon20:c.1700+2T>A;ENST00000587881:exon10:c.1055+2T>A)	.	.	0.999988247793601	0.93
18	56033462	T	C	18	58366230	y	y	splicing	NEDD4L(NM_001144967:exon21:c.2063+2T>C;NM_001243960:exon19:c.1871+2T>C;NM_015277:exon20:c.2003+2T>C;NM_001144964:exon21:c.1700+2T>C;NM_001144968:exon21:c.2039+2T>C;NM_001144965:exon21:c.1700+2T>C;NM_001144971:exon21:c.1640+2T>C;NM_001144969:exon20:c.1979+2T>C;NM_001144970:exon19:c.1640+2T>C;NM_001144966:exon20:c.1700+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1871+2T>C;ENST00000400345:exon21:c.2063+2T>C;ENST00000256832:exon21:c.1643+2T>C;ENST00000382850:exon20:c.2003+2T>C;ENST00000256830:exon18:c.1751+2T>C;ENST00000456986:exon21:c.1700+2T>C;ENST00000357895:exon21:c.2039+2T>C;ENST00000435432:exon21:c.1640+2T>C;ENST00000586263:exon20:c.1979+2T>C;ENST00000456173:exon19:c.1640+2T>C;ENST00000431212:exon20:c.1700+2T>C;ENST00000587881:exon10:c.1055+2T>C)	.	.	0.994877988051647	0.7
18	56033462	T	G	18	58366230	y	y	splicing	NEDD4L(NM_001144967:exon21:c.2063+2T>G;NM_001243960:exon19:c.1871+2T>G;NM_015277:exon20:c.2003+2T>G;NM_001144964:exon21:c.1700+2T>G;NM_001144968:exon21:c.2039+2T>G;NM_001144965:exon21:c.1700+2T>G;NM_001144971:exon21:c.1640+2T>G;NM_001144969:exon20:c.1979+2T>G;NM_001144970:exon19:c.1640+2T>G;NM_001144966:exon20:c.1700+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon19:c.1871+2T>G;ENST00000400345:exon21:c.2063+2T>G;ENST00000256832:exon21:c.1643+2T>G;ENST00000382850:exon20:c.2003+2T>G;ENST00000256830:exon18:c.1751+2T>G;ENST00000456986:exon21:c.1700+2T>G;ENST00000357895:exon21:c.2039+2T>G;ENST00000435432:exon21:c.1640+2T>G;ENST00000586263:exon20:c.1979+2T>G;ENST00000456173:exon19:c.1640+2T>G;ENST00000431212:exon20:c.1700+2T>G;ENST00000587881:exon10:c.1055+2T>G)	.	.	0.999988247793601	0.93
18	56033463	A	C	18	58366231	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.514647592705516	0.386
18	56033463	A	G	18	58366231	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.06586399227115E-4	0.014
18	56033463	A	T	18	58366231	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.847421012820147	0.438
18	56033464	A	C	18	58366232	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.942594955908701	0.682
18	56033464	A	G	18	58366232	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.963671897318804	0.816
18	56033464	A	T	18	58366232	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.978132950487937	0.768
18	56033465	G	A	18	58366233	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999864602431616	0.892
18	56033465	G	C	18	58366233	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999971885172327	0.994
18	56033465	G	T	18	58366233	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999371838891632	0.904
18	56033466	T	A	18	58366234	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.620679034184239	0.652
18	56033466	T	C	18	58366234	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.811683351763658	0.732
18	56033466	T	G	18	58366234	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.317075325170458	0.592
18	56033467	A	C	18	58366235	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.467635739536E-5	0.002
18	56033467	A	G	18	58366235	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.467635739536E-5	0.0
18	56033467	A	T	18	58366235	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.58361277779322E-5	0.0
18	56033468	T	A	18	58366236	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.18586538684499E-4	0.0
18	56033468	T	C	18	58366236	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.22938780917963E-4	0.0
18	56033468	T	G	18	58366236	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.23611613997509E-4	0.0
18	56034966	T	A	18	58367734	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0026015764820641	0.294
18	56034966	T	C	18	58367734	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.27673986966485E-4	0.104
18	56034966	T	G	18	58367734	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00127265990028105	0.23
18	56034967	C	A	18	58367735	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.29122092042384E-4	0.138
18	56034967	C	G	18	58367735	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00148771524962156	0.14
18	56034967	C	T	18	58367735	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.0185972748658E-6	0.008
18	56034968	T	A	18	58367736	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00314188082818647	0.324
18	56034968	T	C	18	58367736	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.66752983786036E-4	0.12
18	56034968	T	G	18	58367736	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00114764345673586	0.294
18	56034969	C	A	18	58367737	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00112180232994298	0.29
18	56034969	C	G	18	58367737	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.001747130769928	0.218
18	56034969	C	T	18	58367737	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.93721695606365E-5	0.05
18	56034970	C	A	18	58367738	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0132633986960643	0.09
18	56034970	C	G	18	58367738	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0031187776684651	0.056
18	56034970	C	T	18	58367738	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.12592326502285E-5	0.0
18	56034971	T	A	18	58367739	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0130173892949757	0.154
18	56034971	T	C	18	58367739	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.68997479430038E-4	0.102
18	56034971	T	G	18	58367739	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0387025461524334	0.224
18	56034972	C	A	18	58367740	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00581985783139461	0.206
18	56034972	C	G	18	58367740	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0238548563249072	0.218
18	56034972	C	T	18	58367740	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.37647682277927E-4	0.008
18	56034973	A	C	18	58367741	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.65633967884459E-5	0.056
18	56034973	A	G	18	58367741	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.02290488834447E-4	0.018
18	56034973	A	T	18	58367741	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.94453041343607E-5	0.014
18	56034974	A	C	18	58367742	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00130345029063979	0.134
18	56034974	A	G	18	58367742	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999652810789177	0.95
18	56034974	A	T	18	58367742	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00165795819317818	0.052
18	56034975	A	C	18	58367743	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.01263704331537E-4	0.05
18	56034975	A	G	18	58367743	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.916710108463276	0.522
18	56034975	A	T	18	58367743	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.96651033566261E-4	0.024
18	56034976	A	C	18	58367744	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2064-2A>C;NM_001243960:exon20:c.1872-2A>C;NM_015277:exon21:c.2004-2A>C;NM_001144964:exon22:c.1701-2A>C;NM_001144968:exon22:c.2040-2A>C;NM_001144965:exon22:c.1701-2A>C;NM_001144971:exon22:c.1641-2A>C;NM_001144969:exon21:c.1980-2A>C;NM_001144970:exon20:c.1641-2A>C;NM_001144966:exon21:c.1701-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1872-2A>C;ENST00000400345:exon22:c.2064-2A>C;ENST00000256832:exon22:c.1644-2A>C;ENST00000382850:exon21:c.2004-2A>C;ENST00000256830:exon19:c.1752-2A>C;ENST00000456986:exon22:c.1701-2A>C;ENST00000357895:exon22:c.2040-2A>C;ENST00000435432:exon22:c.1641-2A>C;ENST00000586263:exon21:c.1980-2A>C;ENST00000456173:exon20:c.1641-2A>C;ENST00000431212:exon21:c.1701-2A>C;ENST00000587881:exon11:c.1056-2A>C)	.	.	0.999986741007567	0.946
18	56034976	A	G	18	58367744	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2064-2A>G;NM_001243960:exon20:c.1872-2A>G;NM_015277:exon21:c.2004-2A>G;NM_001144964:exon22:c.1701-2A>G;NM_001144968:exon22:c.2040-2A>G;NM_001144965:exon22:c.1701-2A>G;NM_001144971:exon22:c.1641-2A>G;NM_001144969:exon21:c.1980-2A>G;NM_001144970:exon20:c.1641-2A>G;NM_001144966:exon21:c.1701-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1872-2A>G;ENST00000400345:exon22:c.2064-2A>G;ENST00000256832:exon22:c.1644-2A>G;ENST00000382850:exon21:c.2004-2A>G;ENST00000256830:exon19:c.1752-2A>G;ENST00000456986:exon22:c.1701-2A>G;ENST00000357895:exon22:c.2040-2A>G;ENST00000435432:exon22:c.1641-2A>G;ENST00000586263:exon21:c.1980-2A>G;ENST00000456173:exon20:c.1641-2A>G;ENST00000431212:exon21:c.1701-2A>G;ENST00000587881:exon11:c.1056-2A>G)	.	.	0.999986741007567	0.946
18	56034976	A	T	18	58367744	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2064-2A>T;NM_001243960:exon20:c.1872-2A>T;NM_015277:exon21:c.2004-2A>T;NM_001144964:exon22:c.1701-2A>T;NM_001144968:exon22:c.2040-2A>T;NM_001144965:exon22:c.1701-2A>T;NM_001144971:exon22:c.1641-2A>T;NM_001144969:exon21:c.1980-2A>T;NM_001144970:exon20:c.1641-2A>T;NM_001144966:exon21:c.1701-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1872-2A>T;ENST00000400345:exon22:c.2064-2A>T;ENST00000256832:exon22:c.1644-2A>T;ENST00000382850:exon21:c.2004-2A>T;ENST00000256830:exon19:c.1752-2A>T;ENST00000456986:exon22:c.1701-2A>T;ENST00000357895:exon22:c.2040-2A>T;ENST00000435432:exon22:c.1641-2A>T;ENST00000586263:exon21:c.1980-2A>T;ENST00000456173:exon20:c.1641-2A>T;ENST00000431212:exon21:c.1701-2A>T;ENST00000587881:exon11:c.1056-2A>T)	.	.	0.999986741007567	0.946
18	56034977	G	A	18	58367745	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2064-1G>A;NM_001243960:exon20:c.1872-1G>A;NM_015277:exon21:c.2004-1G>A;NM_001144964:exon22:c.1701-1G>A;NM_001144968:exon22:c.2040-1G>A;NM_001144965:exon22:c.1701-1G>A;NM_001144971:exon22:c.1641-1G>A;NM_001144969:exon21:c.1980-1G>A;NM_001144970:exon20:c.1641-1G>A;NM_001144966:exon21:c.1701-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1872-1G>A;ENST00000400345:exon22:c.2064-1G>A;ENST00000256832:exon22:c.1644-1G>A;ENST00000382850:exon21:c.2004-1G>A;ENST00000256830:exon19:c.1752-1G>A;ENST00000456986:exon22:c.1701-1G>A;ENST00000357895:exon22:c.2040-1G>A;ENST00000435432:exon22:c.1641-1G>A;ENST00000586263:exon21:c.1980-1G>A;ENST00000456173:exon20:c.1641-1G>A;ENST00000431212:exon21:c.1701-1G>A;ENST00000587881:exon11:c.1056-1G>A)	.	.	0.999989125585301	0.944
18	56034977	G	C	18	58367745	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2064-1G>C;NM_001243960:exon20:c.1872-1G>C;NM_015277:exon21:c.2004-1G>C;NM_001144964:exon22:c.1701-1G>C;NM_001144968:exon22:c.2040-1G>C;NM_001144965:exon22:c.1701-1G>C;NM_001144971:exon22:c.1641-1G>C;NM_001144969:exon21:c.1980-1G>C;NM_001144970:exon20:c.1641-1G>C;NM_001144966:exon21:c.1701-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1872-1G>C;ENST00000400345:exon22:c.2064-1G>C;ENST00000256832:exon22:c.1644-1G>C;ENST00000382850:exon21:c.2004-1G>C;ENST00000256830:exon19:c.1752-1G>C;ENST00000456986:exon22:c.1701-1G>C;ENST00000357895:exon22:c.2040-1G>C;ENST00000435432:exon22:c.1641-1G>C;ENST00000586263:exon21:c.1980-1G>C;ENST00000456173:exon20:c.1641-1G>C;ENST00000431212:exon21:c.1701-1G>C;ENST00000587881:exon11:c.1056-1G>C)	.	.	0.999989125585301	0.944
18	56034977	G	T	18	58367745	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2064-1G>T;NM_001243960:exon20:c.1872-1G>T;NM_015277:exon21:c.2004-1G>T;NM_001144964:exon22:c.1701-1G>T;NM_001144968:exon22:c.2040-1G>T;NM_001144965:exon22:c.1701-1G>T;NM_001144971:exon22:c.1641-1G>T;NM_001144969:exon21:c.1980-1G>T;NM_001144970:exon20:c.1641-1G>T;NM_001144966:exon21:c.1701-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1872-1G>T;ENST00000400345:exon22:c.2064-1G>T;ENST00000256832:exon22:c.1644-1G>T;ENST00000382850:exon21:c.2004-1G>T;ENST00000256830:exon19:c.1752-1G>T;ENST00000456986:exon22:c.1701-1G>T;ENST00000357895:exon22:c.2040-1G>T;ENST00000435432:exon22:c.1641-1G>T;ENST00000586263:exon21:c.1980-1G>T;ENST00000456173:exon20:c.1641-1G>T;ENST00000431212:exon21:c.1701-1G>T;ENST00000587881:exon11:c.1056-1G>T)	.	.	0.999989125585301	0.944
18	56034978	G	A	18	58367746	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon21:c.G1980A:p.T660T;NEDD4L:NM_001144964:exon22:c.G1701A:p.T567T;NEDD4L:NM_015277:exon21:c.G2004A:p.T668T;NEDD4L:NM_001144967:exon22:c.G2064A:p.T688T;NEDD4L:NM_001144971:exon22:c.G1641A:p.T547T;NEDD4L:NM_001144968:exon22:c.G2040A:p.T680T;NEDD4L:NM_001144970:exon20:c.G1641A:p.T547T;NEDD4L:NM_001144965:exon22:c.G1701A:p.T567T;NEDD4L:NM_001144966:exon21:c.G1701A:p.T567T;NEDD4L:NM_001243960:exon20:c.G1872A:p.T624T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1056A:p.T352T;ENSG00000049759:ENST00000435432:exon22:c.G1641A:p.T547T;ENSG00000049759:ENST00000382850:exon21:c.G2004A:p.T668T;ENSG00000049759:ENST00000456986:exon22:c.G1701A:p.T567T;ENSG00000049759:ENST00000256830:exon19:c.G1752A:p.T584T;ENSG00000049759:ENST00000456173:exon20:c.G1641A:p.T547T;ENSG00000049759:ENST00000357895:exon22:c.G2040A:p.T680T;ENSG00000049759:ENST00000256832:exon22:c.G1644A:p.T548T;ENSG00000049759:ENST00000431212:exon21:c.G1701A:p.T567T;ENSG00000049759:ENST00000356462:exon20:c.G1872A:p.T624T;ENSG00000049759:ENST00000400345:exon22:c.G2064A:p.T688T;ENSG00000049759:ENST00000586263:exon21:c.G1980A:p.T660T;	0.922778653382321	0.582
18	56034978	G	C	18	58367746	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon21:c.G1980C:p.T660T;NEDD4L:NM_001144964:exon22:c.G1701C:p.T567T;NEDD4L:NM_015277:exon21:c.G2004C:p.T668T;NEDD4L:NM_001144967:exon22:c.G2064C:p.T688T;NEDD4L:NM_001144971:exon22:c.G1641C:p.T547T;NEDD4L:NM_001144968:exon22:c.G2040C:p.T680T;NEDD4L:NM_001144970:exon20:c.G1641C:p.T547T;NEDD4L:NM_001144965:exon22:c.G1701C:p.T567T;NEDD4L:NM_001144966:exon21:c.G1701C:p.T567T;NEDD4L:NM_001243960:exon20:c.G1872C:p.T624T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1056C:p.T352T;ENSG00000049759:ENST00000435432:exon22:c.G1641C:p.T547T;ENSG00000049759:ENST00000382850:exon21:c.G2004C:p.T668T;ENSG00000049759:ENST00000456986:exon22:c.G1701C:p.T567T;ENSG00000049759:ENST00000256830:exon19:c.G1752C:p.T584T;ENSG00000049759:ENST00000456173:exon20:c.G1641C:p.T547T;ENSG00000049759:ENST00000357895:exon22:c.G2040C:p.T680T;ENSG00000049759:ENST00000256832:exon22:c.G1644C:p.T548T;ENSG00000049759:ENST00000431212:exon21:c.G1701C:p.T567T;ENSG00000049759:ENST00000356462:exon20:c.G1872C:p.T624T;ENSG00000049759:ENST00000400345:exon22:c.G2064C:p.T688T;ENSG00000049759:ENST00000586263:exon21:c.G1980C:p.T660T;	0.617256360034417	0.7
18	56034978	G	T	18	58367746	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon21:c.G1980T:p.T660T;NEDD4L:NM_001144964:exon22:c.G1701T:p.T567T;NEDD4L:NM_015277:exon21:c.G2004T:p.T668T;NEDD4L:NM_001144967:exon22:c.G2064T:p.T688T;NEDD4L:NM_001144971:exon22:c.G1641T:p.T547T;NEDD4L:NM_001144968:exon22:c.G2040T:p.T680T;NEDD4L:NM_001144970:exon20:c.G1641T:p.T547T;NEDD4L:NM_001144965:exon22:c.G1701T:p.T567T;NEDD4L:NM_001144966:exon21:c.G1701T:p.T567T;NEDD4L:NM_001243960:exon20:c.G1872T:p.T624T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1056T:p.T352T;ENSG00000049759:ENST00000435432:exon22:c.G1641T:p.T547T;ENSG00000049759:ENST00000382850:exon21:c.G2004T:p.T668T;ENSG00000049759:ENST00000456986:exon22:c.G1701T:p.T567T;ENSG00000049759:ENST00000256830:exon19:c.G1752T:p.T584T;ENSG00000049759:ENST00000456173:exon20:c.G1641T:p.T547T;ENSG00000049759:ENST00000357895:exon22:c.G2040T:p.T680T;ENSG00000049759:ENST00000256832:exon22:c.G1644T:p.T548T;ENSG00000049759:ENST00000431212:exon21:c.G1701T:p.T567T;ENSG00000049759:ENST00000356462:exon20:c.G1872T:p.T624T;ENSG00000049759:ENST00000400345:exon22:c.G2064T:p.T688T;ENSG00000049759:ENST00000586263:exon21:c.G1980T:p.T660T;	0.987865490345054	0.886
18	56034979	G	A	18	58367747	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.G1981A:p.D661N;NEDD4L:NM_001144964:exon22:c.G1702A:p.D568N;NEDD4L:NM_015277:exon21:c.G2005A:p.D669N;NEDD4L:NM_001144967:exon22:c.G2065A:p.D689N;NEDD4L:NM_001144971:exon22:c.G1642A:p.D548N;NEDD4L:NM_001144968:exon22:c.G2041A:p.D681N;NEDD4L:NM_001144970:exon20:c.G1642A:p.D548N;NEDD4L:NM_001144965:exon22:c.G1702A:p.D568N;NEDD4L:NM_001144966:exon21:c.G1702A:p.D568N;NEDD4L:NM_001243960:exon20:c.G1873A:p.D625N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1057A:p.D353N;ENSG00000049759:ENST00000435432:exon22:c.G1642A:p.D548N;ENSG00000049759:ENST00000382850:exon21:c.G2005A:p.D669N;ENSG00000049759:ENST00000456986:exon22:c.G1702A:p.D568N;ENSG00000049759:ENST00000256830:exon19:c.G1753A:p.D585N;ENSG00000049759:ENST00000456173:exon20:c.G1642A:p.D548N;ENSG00000049759:ENST00000357895:exon22:c.G2041A:p.D681N;ENSG00000049759:ENST00000256832:exon22:c.G1645A:p.D549N;ENSG00000049759:ENST00000431212:exon21:c.G1702A:p.D568N;ENSG00000049759:ENST00000356462:exon20:c.G1873A:p.D625N;ENSG00000049759:ENST00000400345:exon22:c.G2065A:p.D689N;ENSG00000049759:ENST00000586263:exon21:c.G1981A:p.D661N;	0.989169094812942	0.906
18	56034979	G	C	18	58367747	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.G1981C:p.D661H;NEDD4L:NM_001144964:exon22:c.G1702C:p.D568H;NEDD4L:NM_015277:exon21:c.G2005C:p.D669H;NEDD4L:NM_001144967:exon22:c.G2065C:p.D689H;NEDD4L:NM_001144971:exon22:c.G1642C:p.D548H;NEDD4L:NM_001144968:exon22:c.G2041C:p.D681H;NEDD4L:NM_001144970:exon20:c.G1642C:p.D548H;NEDD4L:NM_001144965:exon22:c.G1702C:p.D568H;NEDD4L:NM_001144966:exon21:c.G1702C:p.D568H;NEDD4L:NM_001243960:exon20:c.G1873C:p.D625H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1057C:p.D353H;ENSG00000049759:ENST00000435432:exon22:c.G1642C:p.D548H;ENSG00000049759:ENST00000382850:exon21:c.G2005C:p.D669H;ENSG00000049759:ENST00000456986:exon22:c.G1702C:p.D568H;ENSG00000049759:ENST00000256830:exon19:c.G1753C:p.D585H;ENSG00000049759:ENST00000456173:exon20:c.G1642C:p.D548H;ENSG00000049759:ENST00000357895:exon22:c.G2041C:p.D681H;ENSG00000049759:ENST00000256832:exon22:c.G1645C:p.D549H;ENSG00000049759:ENST00000431212:exon21:c.G1702C:p.D568H;ENSG00000049759:ENST00000356462:exon20:c.G1873C:p.D625H;ENSG00000049759:ENST00000400345:exon22:c.G2065C:p.D689H;ENSG00000049759:ENST00000586263:exon21:c.G1981C:p.D661H;	0.954358856722929	0.884
18	56034979	G	T	18	58367747	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.G1981T:p.D661Y;NEDD4L:NM_001144964:exon22:c.G1702T:p.D568Y;NEDD4L:NM_015277:exon21:c.G2005T:p.D669Y;NEDD4L:NM_001144967:exon22:c.G2065T:p.D689Y;NEDD4L:NM_001144971:exon22:c.G1642T:p.D548Y;NEDD4L:NM_001144968:exon22:c.G2041T:p.D681Y;NEDD4L:NM_001144970:exon20:c.G1642T:p.D548Y;NEDD4L:NM_001144965:exon22:c.G1702T:p.D568Y;NEDD4L:NM_001144966:exon21:c.G1702T:p.D568Y;NEDD4L:NM_001243960:exon20:c.G1873T:p.D625Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1057T:p.D353Y;ENSG00000049759:ENST00000435432:exon22:c.G1642T:p.D548Y;ENSG00000049759:ENST00000382850:exon21:c.G2005T:p.D669Y;ENSG00000049759:ENST00000456986:exon22:c.G1702T:p.D568Y;ENSG00000049759:ENST00000256830:exon19:c.G1753T:p.D585Y;ENSG00000049759:ENST00000456173:exon20:c.G1642T:p.D548Y;ENSG00000049759:ENST00000357895:exon22:c.G2041T:p.D681Y;ENSG00000049759:ENST00000256832:exon22:c.G1645T:p.D549Y;ENSG00000049759:ENST00000431212:exon21:c.G1702T:p.D568Y;ENSG00000049759:ENST00000356462:exon20:c.G1873T:p.D625Y;ENSG00000049759:ENST00000400345:exon22:c.G2065T:p.D689Y;ENSG00000049759:ENST00000586263:exon21:c.G1981T:p.D661Y;	0.976131389336756	0.846
18	56035097	A	C	18	58367865	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.A2099C:p.D700A;NEDD4L:NM_001144964:exon22:c.A1820C:p.D607A;NEDD4L:NM_015277:exon21:c.A2123C:p.D708A;NEDD4L:NM_001144967:exon22:c.A2183C:p.D728A;NEDD4L:NM_001144971:exon22:c.A1760C:p.D587A;NEDD4L:NM_001144968:exon22:c.A2159C:p.D720A;NEDD4L:NM_001144970:exon20:c.A1760C:p.D587A;NEDD4L:NM_001144965:exon22:c.A1820C:p.D607A;NEDD4L:NM_001144966:exon21:c.A1820C:p.D607A;NEDD4L:NM_001243960:exon20:c.A1991C:p.D664A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.A1175C:p.D392A;ENSG00000049759:ENST00000435432:exon22:c.A1760C:p.D587A;ENSG00000049759:ENST00000382850:exon21:c.A2123C:p.D708A;ENSG00000049759:ENST00000456986:exon22:c.A1820C:p.D607A;ENSG00000049759:ENST00000256830:exon19:c.A1871C:p.D624A;ENSG00000049759:ENST00000456173:exon20:c.A1760C:p.D587A;ENSG00000049759:ENST00000357895:exon22:c.A2159C:p.D720A;ENSG00000049759:ENST00000256832:exon22:c.A1763C:p.D588A;ENSG00000049759:ENST00000431212:exon21:c.A1820C:p.D607A;ENSG00000049759:ENST00000356462:exon20:c.A1991C:p.D664A;ENSG00000049759:ENST00000400345:exon22:c.A2183C:p.D728A;ENSG00000049759:ENST00000586263:exon21:c.A2099C:p.D700A;	0.698616867486877	0.698
18	56035097	A	G	18	58367865	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.A2099G:p.D700G;NEDD4L:NM_001144964:exon22:c.A1820G:p.D607G;NEDD4L:NM_015277:exon21:c.A2123G:p.D708G;NEDD4L:NM_001144967:exon22:c.A2183G:p.D728G;NEDD4L:NM_001144971:exon22:c.A1760G:p.D587G;NEDD4L:NM_001144968:exon22:c.A2159G:p.D720G;NEDD4L:NM_001144970:exon20:c.A1760G:p.D587G;NEDD4L:NM_001144965:exon22:c.A1820G:p.D607G;NEDD4L:NM_001144966:exon21:c.A1820G:p.D607G;NEDD4L:NM_001243960:exon20:c.A1991G:p.D664G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.A1175G:p.D392G;ENSG00000049759:ENST00000435432:exon22:c.A1760G:p.D587G;ENSG00000049759:ENST00000382850:exon21:c.A2123G:p.D708G;ENSG00000049759:ENST00000456986:exon22:c.A1820G:p.D607G;ENSG00000049759:ENST00000256830:exon19:c.A1871G:p.D624G;ENSG00000049759:ENST00000456173:exon20:c.A1760G:p.D587G;ENSG00000049759:ENST00000357895:exon22:c.A2159G:p.D720G;ENSG00000049759:ENST00000256832:exon22:c.A1763G:p.D588G;ENSG00000049759:ENST00000431212:exon21:c.A1820G:p.D607G;ENSG00000049759:ENST00000356462:exon20:c.A1991G:p.D664G;ENSG00000049759:ENST00000400345:exon22:c.A2183G:p.D728G;ENSG00000049759:ENST00000586263:exon21:c.A2099G:p.D700G;	0.313992329060878	0.404
18	56035097	A	T	18	58367865	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.A2099T:p.D700V;NEDD4L:NM_001144964:exon22:c.A1820T:p.D607V;NEDD4L:NM_015277:exon21:c.A2123T:p.D708V;NEDD4L:NM_001144967:exon22:c.A2183T:p.D728V;NEDD4L:NM_001144971:exon22:c.A1760T:p.D587V;NEDD4L:NM_001144968:exon22:c.A2159T:p.D720V;NEDD4L:NM_001144970:exon20:c.A1760T:p.D587V;NEDD4L:NM_001144965:exon22:c.A1820T:p.D607V;NEDD4L:NM_001144966:exon21:c.A1820T:p.D607V;NEDD4L:NM_001243960:exon20:c.A1991T:p.D664V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.A1175T:p.D392V;ENSG00000049759:ENST00000435432:exon22:c.A1760T:p.D587V;ENSG00000049759:ENST00000382850:exon21:c.A2123T:p.D708V;ENSG00000049759:ENST00000456986:exon22:c.A1820T:p.D607V;ENSG00000049759:ENST00000256830:exon19:c.A1871T:p.D624V;ENSG00000049759:ENST00000456173:exon20:c.A1760T:p.D587V;ENSG00000049759:ENST00000357895:exon22:c.A2159T:p.D720V;ENSG00000049759:ENST00000256832:exon22:c.A1763T:p.D588V;ENSG00000049759:ENST00000431212:exon21:c.A1820T:p.D607V;ENSG00000049759:ENST00000356462:exon20:c.A1991T:p.D664V;ENSG00000049759:ENST00000400345:exon22:c.A2183T:p.D728V;ENSG00000049759:ENST00000586263:exon21:c.A2099T:p.D700V;	0.897309201982224	0.51
18	56035098	T	A	18	58367866	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.T2100A:p.D700E;NEDD4L:NM_001144964:exon22:c.T1821A:p.D607E;NEDD4L:NM_015277:exon21:c.T2124A:p.D708E;NEDD4L:NM_001144967:exon22:c.T2184A:p.D728E;NEDD4L:NM_001144971:exon22:c.T1761A:p.D587E;NEDD4L:NM_001144968:exon22:c.T2160A:p.D720E;NEDD4L:NM_001144970:exon20:c.T1761A:p.D587E;NEDD4L:NM_001144965:exon22:c.T1821A:p.D607E;NEDD4L:NM_001144966:exon21:c.T1821A:p.D607E;NEDD4L:NM_001243960:exon20:c.T1992A:p.D664E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.T1176A:p.D392E;ENSG00000049759:ENST00000435432:exon22:c.T1761A:p.D587E;ENSG00000049759:ENST00000382850:exon21:c.T2124A:p.D708E;ENSG00000049759:ENST00000456986:exon22:c.T1821A:p.D607E;ENSG00000049759:ENST00000256830:exon19:c.T1872A:p.D624E;ENSG00000049759:ENST00000456173:exon20:c.T1761A:p.D587E;ENSG00000049759:ENST00000357895:exon22:c.T2160A:p.D720E;ENSG00000049759:ENST00000256832:exon22:c.T1764A:p.D588E;ENSG00000049759:ENST00000431212:exon21:c.T1821A:p.D607E;ENSG00000049759:ENST00000356462:exon20:c.T1992A:p.D664E;ENSG00000049759:ENST00000400345:exon22:c.T2184A:p.D728E;ENSG00000049759:ENST00000586263:exon21:c.T2100A:p.D700E;	0.0391822901248284	0.348
18	56035098	T	C	18	58367866	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon21:c.T2100C:p.D700D;NEDD4L:NM_001144964:exon22:c.T1821C:p.D607D;NEDD4L:NM_015277:exon21:c.T2124C:p.D708D;NEDD4L:NM_001144967:exon22:c.T2184C:p.D728D;NEDD4L:NM_001144971:exon22:c.T1761C:p.D587D;NEDD4L:NM_001144968:exon22:c.T2160C:p.D720D;NEDD4L:NM_001144970:exon20:c.T1761C:p.D587D;NEDD4L:NM_001144965:exon22:c.T1821C:p.D607D;NEDD4L:NM_001144966:exon21:c.T1821C:p.D607D;NEDD4L:NM_001243960:exon20:c.T1992C:p.D664D;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.T1176C:p.D392D;ENSG00000049759:ENST00000435432:exon22:c.T1761C:p.D587D;ENSG00000049759:ENST00000382850:exon21:c.T2124C:p.D708D;ENSG00000049759:ENST00000456986:exon22:c.T1821C:p.D607D;ENSG00000049759:ENST00000256830:exon19:c.T1872C:p.D624D;ENSG00000049759:ENST00000456173:exon20:c.T1761C:p.D587D;ENSG00000049759:ENST00000357895:exon22:c.T2160C:p.D720D;ENSG00000049759:ENST00000256832:exon22:c.T1764C:p.D588D;ENSG00000049759:ENST00000431212:exon21:c.T1821C:p.D607D;ENSG00000049759:ENST00000356462:exon20:c.T1992C:p.D664D;ENSG00000049759:ENST00000400345:exon22:c.T2184C:p.D728D;ENSG00000049759:ENST00000586263:exon21:c.T2100C:p.D700D;	5.57698376647116E-4	0.016
18	56035098	T	G	18	58367866	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.T2100G:p.D700E;NEDD4L:NM_001144964:exon22:c.T1821G:p.D607E;NEDD4L:NM_015277:exon21:c.T2124G:p.D708E;NEDD4L:NM_001144967:exon22:c.T2184G:p.D728E;NEDD4L:NM_001144971:exon22:c.T1761G:p.D587E;NEDD4L:NM_001144968:exon22:c.T2160G:p.D720E;NEDD4L:NM_001144970:exon20:c.T1761G:p.D587E;NEDD4L:NM_001144965:exon22:c.T1821G:p.D607E;NEDD4L:NM_001144966:exon21:c.T1821G:p.D607E;NEDD4L:NM_001243960:exon20:c.T1992G:p.D664E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.T1176G:p.D392E;ENSG00000049759:ENST00000435432:exon22:c.T1761G:p.D587E;ENSG00000049759:ENST00000382850:exon21:c.T2124G:p.D708E;ENSG00000049759:ENST00000456986:exon22:c.T1821G:p.D607E;ENSG00000049759:ENST00000256830:exon19:c.T1872G:p.D624E;ENSG00000049759:ENST00000456173:exon20:c.T1761G:p.D587E;ENSG00000049759:ENST00000357895:exon22:c.T2160G:p.D720E;ENSG00000049759:ENST00000256832:exon22:c.T1764G:p.D588E;ENSG00000049759:ENST00000431212:exon21:c.T1821G:p.D607E;ENSG00000049759:ENST00000356462:exon20:c.T1992G:p.D664E;ENSG00000049759:ENST00000400345:exon22:c.T2184G:p.D728E;ENSG00000049759:ENST00000586263:exon21:c.T2100G:p.D700E;	0.043753596392501	0.25
18	56035099	G	A	18	58367867	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.G2101A:p.G701S;NEDD4L:NM_001144964:exon22:c.G1822A:p.G608S;NEDD4L:NM_015277:exon21:c.G2125A:p.G709S;NEDD4L:NM_001144967:exon22:c.G2185A:p.G729S;NEDD4L:NM_001144971:exon22:c.G1762A:p.G588S;NEDD4L:NM_001144968:exon22:c.G2161A:p.G721S;NEDD4L:NM_001144970:exon20:c.G1762A:p.G588S;NEDD4L:NM_001144965:exon22:c.G1822A:p.G608S;NEDD4L:NM_001144966:exon21:c.G1822A:p.G608S;NEDD4L:NM_001243960:exon20:c.G1993A:p.G665S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1177A:p.G393S;ENSG00000049759:ENST00000435432:exon22:c.G1762A:p.G588S;ENSG00000049759:ENST00000382850:exon21:c.G2125A:p.G709S;ENSG00000049759:ENST00000456986:exon22:c.G1822A:p.G608S;ENSG00000049759:ENST00000256830:exon19:c.G1873A:p.G625S;ENSG00000049759:ENST00000456173:exon20:c.G1762A:p.G588S;ENSG00000049759:ENST00000357895:exon22:c.G2161A:p.G721S;ENSG00000049759:ENST00000256832:exon22:c.G1765A:p.G589S;ENSG00000049759:ENST00000431212:exon21:c.G1822A:p.G608S;ENSG00000049759:ENST00000356462:exon20:c.G1993A:p.G665S;ENSG00000049759:ENST00000400345:exon22:c.G2185A:p.G729S;ENSG00000049759:ENST00000586263:exon21:c.G2101A:p.G701S;	0.99983423638004	0.956
18	56035099	G	C	18	58367867	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.G2101C:p.G701R;NEDD4L:NM_001144964:exon22:c.G1822C:p.G608R;NEDD4L:NM_015277:exon21:c.G2125C:p.G709R;NEDD4L:NM_001144967:exon22:c.G2185C:p.G729R;NEDD4L:NM_001144971:exon22:c.G1762C:p.G588R;NEDD4L:NM_001144968:exon22:c.G2161C:p.G721R;NEDD4L:NM_001144970:exon20:c.G1762C:p.G588R;NEDD4L:NM_001144965:exon22:c.G1822C:p.G608R;NEDD4L:NM_001144966:exon21:c.G1822C:p.G608R;NEDD4L:NM_001243960:exon20:c.G1993C:p.G665R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1177C:p.G393R;ENSG00000049759:ENST00000435432:exon22:c.G1762C:p.G588R;ENSG00000049759:ENST00000382850:exon21:c.G2125C:p.G709R;ENSG00000049759:ENST00000456986:exon22:c.G1822C:p.G608R;ENSG00000049759:ENST00000256830:exon19:c.G1873C:p.G625R;ENSG00000049759:ENST00000456173:exon20:c.G1762C:p.G588R;ENSG00000049759:ENST00000357895:exon22:c.G2161C:p.G721R;ENSG00000049759:ENST00000256832:exon22:c.G1765C:p.G589R;ENSG00000049759:ENST00000431212:exon21:c.G1822C:p.G608R;ENSG00000049759:ENST00000356462:exon20:c.G1993C:p.G665R;ENSG00000049759:ENST00000400345:exon22:c.G2185C:p.G729R;ENSG00000049759:ENST00000586263:exon21:c.G2101C:p.G701R;	0.99987060546957	0.936
18	56035099	G	T	18	58367867	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon21:c.G2101T:p.G701C;NEDD4L:NM_001144964:exon22:c.G1822T:p.G608C;NEDD4L:NM_015277:exon21:c.G2125T:p.G709C;NEDD4L:NM_001144967:exon22:c.G2185T:p.G729C;NEDD4L:NM_001144971:exon22:c.G1762T:p.G588C;NEDD4L:NM_001144968:exon22:c.G2161T:p.G721C;NEDD4L:NM_001144970:exon20:c.G1762T:p.G588C;NEDD4L:NM_001144965:exon22:c.G1822T:p.G608C;NEDD4L:NM_001144966:exon21:c.G1822T:p.G608C;NEDD4L:NM_001243960:exon20:c.G1993T:p.G665C;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon11:c.G1177T:p.G393C;ENSG00000049759:ENST00000435432:exon22:c.G1762T:p.G588C;ENSG00000049759:ENST00000382850:exon21:c.G2125T:p.G709C;ENSG00000049759:ENST00000456986:exon22:c.G1822T:p.G608C;ENSG00000049759:ENST00000256830:exon19:c.G1873T:p.G625C;ENSG00000049759:ENST00000456173:exon20:c.G1762T:p.G588C;ENSG00000049759:ENST00000357895:exon22:c.G2161T:p.G721C;ENSG00000049759:ENST00000256832:exon22:c.G1765T:p.G589C;ENSG00000049759:ENST00000431212:exon21:c.G1822T:p.G608C;ENSG00000049759:ENST00000356462:exon20:c.G1993T:p.G665C;ENSG00000049759:ENST00000400345:exon22:c.G2185T:p.G729C;ENSG00000049759:ENST00000586263:exon21:c.G2101T:p.G701C;	0.999849680654472	0.964
18	56035100	G	A	18	58367868	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2185+1G>A;NM_001243960:exon20:c.1993+1G>A;NM_015277:exon21:c.2125+1G>A;NM_001144964:exon22:c.1822+1G>A;NM_001144968:exon22:c.2161+1G>A;NM_001144965:exon22:c.1822+1G>A;NM_001144971:exon22:c.1762+1G>A;NM_001144969:exon21:c.2101+1G>A;NM_001144970:exon20:c.1762+1G>A;NM_001144966:exon21:c.1822+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1993+1G>A;ENST00000400345:exon22:c.2185+1G>A;ENST00000256832:exon22:c.1765+1G>A;ENST00000382850:exon21:c.2125+1G>A;ENST00000256830:exon19:c.1873+1G>A;ENST00000456986:exon22:c.1822+1G>A;ENST00000357895:exon22:c.2161+1G>A;ENST00000435432:exon22:c.1762+1G>A;ENST00000586263:exon21:c.2101+1G>A;ENST00000456173:exon20:c.1762+1G>A;ENST00000431212:exon21:c.1822+1G>A;ENST00000587881:exon11:c.1177+1G>A)	.	.	0.999990361384395	0.938
18	56035100	G	C	18	58367868	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2185+1G>C;NM_001243960:exon20:c.1993+1G>C;NM_015277:exon21:c.2125+1G>C;NM_001144964:exon22:c.1822+1G>C;NM_001144968:exon22:c.2161+1G>C;NM_001144965:exon22:c.1822+1G>C;NM_001144971:exon22:c.1762+1G>C;NM_001144969:exon21:c.2101+1G>C;NM_001144970:exon20:c.1762+1G>C;NM_001144966:exon21:c.1822+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1993+1G>C;ENST00000400345:exon22:c.2185+1G>C;ENST00000256832:exon22:c.1765+1G>C;ENST00000382850:exon21:c.2125+1G>C;ENST00000256830:exon19:c.1873+1G>C;ENST00000456986:exon22:c.1822+1G>C;ENST00000357895:exon22:c.2161+1G>C;ENST00000435432:exon22:c.1762+1G>C;ENST00000586263:exon21:c.2101+1G>C;ENST00000456173:exon20:c.1762+1G>C;ENST00000431212:exon21:c.1822+1G>C;ENST00000587881:exon11:c.1177+1G>C)	.	.	0.999990361384395	0.938
18	56035100	G	T	18	58367868	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2185+1G>T;NM_001243960:exon20:c.1993+1G>T;NM_015277:exon21:c.2125+1G>T;NM_001144964:exon22:c.1822+1G>T;NM_001144968:exon22:c.2161+1G>T;NM_001144965:exon22:c.1822+1G>T;NM_001144971:exon22:c.1762+1G>T;NM_001144969:exon21:c.2101+1G>T;NM_001144970:exon20:c.1762+1G>T;NM_001144966:exon21:c.1822+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1993+1G>T;ENST00000400345:exon22:c.2185+1G>T;ENST00000256832:exon22:c.1765+1G>T;ENST00000382850:exon21:c.2125+1G>T;ENST00000256830:exon19:c.1873+1G>T;ENST00000456986:exon22:c.1822+1G>T;ENST00000357895:exon22:c.2161+1G>T;ENST00000435432:exon22:c.1762+1G>T;ENST00000586263:exon21:c.2101+1G>T;ENST00000456173:exon20:c.1762+1G>T;ENST00000431212:exon21:c.1822+1G>T;ENST00000587881:exon11:c.1177+1G>T)	.	.	0.999990361384395	0.938
18	56035101	T	A	18	58367869	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2185+2T>A;NM_001243960:exon20:c.1993+2T>A;NM_015277:exon21:c.2125+2T>A;NM_001144964:exon22:c.1822+2T>A;NM_001144968:exon22:c.2161+2T>A;NM_001144965:exon22:c.1822+2T>A;NM_001144971:exon22:c.1762+2T>A;NM_001144969:exon21:c.2101+2T>A;NM_001144970:exon20:c.1762+2T>A;NM_001144966:exon21:c.1822+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1993+2T>A;ENST00000400345:exon22:c.2185+2T>A;ENST00000256832:exon22:c.1765+2T>A;ENST00000382850:exon21:c.2125+2T>A;ENST00000256830:exon19:c.1873+2T>A;ENST00000456986:exon22:c.1822+2T>A;ENST00000357895:exon22:c.2161+2T>A;ENST00000435432:exon22:c.1762+2T>A;ENST00000586263:exon21:c.2101+2T>A;ENST00000456173:exon20:c.1762+2T>A;ENST00000431212:exon21:c.1822+2T>A;ENST00000587881:exon11:c.1177+2T>A)	.	.	0.999988247793601	0.93
18	56035101	T	C	18	58367869	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2185+2T>C;NM_001243960:exon20:c.1993+2T>C;NM_015277:exon21:c.2125+2T>C;NM_001144964:exon22:c.1822+2T>C;NM_001144968:exon22:c.2161+2T>C;NM_001144965:exon22:c.1822+2T>C;NM_001144971:exon22:c.1762+2T>C;NM_001144969:exon21:c.2101+2T>C;NM_001144970:exon20:c.1762+2T>C;NM_001144966:exon21:c.1822+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1993+2T>C;ENST00000400345:exon22:c.2185+2T>C;ENST00000256832:exon22:c.1765+2T>C;ENST00000382850:exon21:c.2125+2T>C;ENST00000256830:exon19:c.1873+2T>C;ENST00000456986:exon22:c.1822+2T>C;ENST00000357895:exon22:c.2161+2T>C;ENST00000435432:exon22:c.1762+2T>C;ENST00000586263:exon21:c.2101+2T>C;ENST00000456173:exon20:c.1762+2T>C;ENST00000431212:exon21:c.1822+2T>C;ENST00000587881:exon11:c.1177+2T>C)	.	.	0.99340600729494	0.686
18	56035101	T	G	18	58367869	y	y	splicing	NEDD4L(NM_001144967:exon22:c.2185+2T>G;NM_001243960:exon20:c.1993+2T>G;NM_015277:exon21:c.2125+2T>G;NM_001144964:exon22:c.1822+2T>G;NM_001144968:exon22:c.2161+2T>G;NM_001144965:exon22:c.1822+2T>G;NM_001144971:exon22:c.1762+2T>G;NM_001144969:exon21:c.2101+2T>G;NM_001144970:exon20:c.1762+2T>G;NM_001144966:exon21:c.1822+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon20:c.1993+2T>G;ENST00000400345:exon22:c.2185+2T>G;ENST00000256832:exon22:c.1765+2T>G;ENST00000382850:exon21:c.2125+2T>G;ENST00000256830:exon19:c.1873+2T>G;ENST00000456986:exon22:c.1822+2T>G;ENST00000357895:exon22:c.2161+2T>G;ENST00000435432:exon22:c.1762+2T>G;ENST00000586263:exon21:c.2101+2T>G;ENST00000456173:exon20:c.1762+2T>G;ENST00000431212:exon21:c.1822+2T>G;ENST00000587881:exon11:c.1177+2T>G)	.	.	0.999988247793601	0.93
18	56035102	A	C	18	58367870	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996523550643605	0.72
18	56035102	A	G	18	58367870	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00188130524254861	0.078
18	56035102	A	T	18	58367870	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.68569905857233	0.53
18	56035103	A	C	18	58367871	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0487231283397405	0.204
18	56035103	A	G	18	58367871	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.408356669207683	0.336
18	56035103	A	T	18	58367871	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.104167435550651	0.306
18	56035104	G	A	18	58367872	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997256611746195	0.766
18	56035104	G	C	18	58367872	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.991524721971816	0.696
18	56035104	G	T	18	58367872	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.98688332053289	0.712
18	56035105	T	A	18	58367873	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00266000096419774	0.124
18	56035105	T	C	18	58367873	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0104000347143029	0.096
18	56035105	T	G	18	58367873	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00383089268414007	0.084
18	56035106	C	A	18	58367874	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.97897577769029E-4	0.006
18	56035106	C	G	18	58367874	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.97897577769029E-4	0.0
18	56035106	C	T	18	58367874	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.24642133493272E-4	0.004
18	56035107	T	A	18	58367875	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.2369051987551E-5	0.0
18	56035107	T	C	18	58367875	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.04136101913428E-5	0.0
18	56035107	T	G	18	58367875	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.04136101913428E-5	0.01
18	56037617	A	C	18	58370385	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.65531373110514E-5	0.002
18	56037617	A	G	18	58370385	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.27344866935267E-5	0.02
18	56037617	A	T	18	58370385	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.65531373110514E-5	0.008
18	56037618	C	A	18	58370386	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.46028403418648E-4	0.146
18	56037618	C	G	18	58370386	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999027446991209	0.986
18	56037618	C	T	18	58370386	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.69467855599823E-5	0.0
18	56037619	C	A	18	58370387	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998816371663305	0.962
18	56037619	C	G	18	58370387	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.47428343924891E-5	0.006
18	56037619	C	T	18	58370387	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.6491742146399E-5	0.0
18	56037620	G	A	18	58370388	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.69960155097235E-4	0.006
18	56037620	G	C	18	58370388	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.96134131938084E-5	0.002
18	56037620	G	T	18	58370388	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.59251384534074E-5	0.002
18	56037621	T	A	18	58370389	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999972847394141	0.996
18	56037621	T	C	18	58370389	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.09298533288347E-4	0.002
18	56037621	T	G	18	58370389	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0992959419823165	0.314
18	56037622	G	A	18	58370390	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.45331388339465E-5	0.0
18	56037622	G	C	18	58370390	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.2410383844873E-5	0.0
18	56037622	G	T	18	58370390	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.2410383844873E-5	0.0
18	56037623	T	A	18	58370391	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.188421765758861	0.362
18	56037623	T	C	18	58370391	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.58054439170651E-4	0.038
18	56037623	T	G	18	58370391	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.568199493667325	0.432
18	56037624	T	A	18	58370392	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.96711455269944	0.582
18	56037624	T	C	18	58370392	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00726781288451731	0.136
18	56037624	T	G	18	58370392	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.853365576732622	0.498
18	56037625	T	A	18	58370393	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.78277158620943E-4	0.024
18	56037625	T	C	18	58370393	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.70196754886469E-5	0.004
18	56037625	T	G	18	58370393	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.34802394856455E-4	0.008
18	56037626	T	A	18	58370394	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00428645714868278	0.208
18	56037626	T	C	18	58370394	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.51205234984636E-5	0.0
18	56037626	T	G	18	58370394	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.87799186715894	0.626
18	56037627	A	C	18	58370395	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2186-2A>C;NM_001243960:exon21:c.1994-2A>C;NM_015277:exon22:c.2126-2A>C;NM_001144964:exon23:c.1823-2A>C;NM_001144968:exon23:c.2162-2A>C;NM_001144965:exon23:c.1823-2A>C;NM_001144971:exon23:c.1763-2A>C;NM_001144969:exon22:c.2102-2A>C;NM_001144970:exon21:c.1763-2A>C;NM_001144966:exon22:c.1823-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.1994-2A>C;ENST00000400345:exon23:c.2186-2A>C;ENST00000256832:exon23:c.1766-2A>C;ENST00000382850:exon22:c.2126-2A>C;ENST00000256830:exon20:c.1874-2A>C;ENST00000456986:exon23:c.1823-2A>C;ENST00000357895:exon23:c.2162-2A>C;ENST00000435432:exon23:c.1763-2A>C;ENST00000586263:exon22:c.2102-2A>C;ENST00000456173:exon21:c.1763-2A>C;ENST00000431212:exon22:c.1823-2A>C;ENST00000587881:exon12:c.1178-2A>C)	.	.	0.999988247793601	0.93
18	56037627	A	G	18	58370395	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2186-2A>G;NM_001243960:exon21:c.1994-2A>G;NM_015277:exon22:c.2126-2A>G;NM_001144964:exon23:c.1823-2A>G;NM_001144968:exon23:c.2162-2A>G;NM_001144965:exon23:c.1823-2A>G;NM_001144971:exon23:c.1763-2A>G;NM_001144969:exon22:c.2102-2A>G;NM_001144970:exon21:c.1763-2A>G;NM_001144966:exon22:c.1823-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.1994-2A>G;ENST00000400345:exon23:c.2186-2A>G;ENST00000256832:exon23:c.1766-2A>G;ENST00000382850:exon22:c.2126-2A>G;ENST00000256830:exon20:c.1874-2A>G;ENST00000456986:exon23:c.1823-2A>G;ENST00000357895:exon23:c.2162-2A>G;ENST00000435432:exon23:c.1763-2A>G;ENST00000586263:exon22:c.2102-2A>G;ENST00000456173:exon21:c.1763-2A>G;ENST00000431212:exon22:c.1823-2A>G;ENST00000587881:exon12:c.1178-2A>G)	.	.	0.999988247793601	0.93
18	56037627	A	T	18	58370395	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2186-2A>T;NM_001243960:exon21:c.1994-2A>T;NM_015277:exon22:c.2126-2A>T;NM_001144964:exon23:c.1823-2A>T;NM_001144968:exon23:c.2162-2A>T;NM_001144965:exon23:c.1823-2A>T;NM_001144971:exon23:c.1763-2A>T;NM_001144969:exon22:c.2102-2A>T;NM_001144970:exon21:c.1763-2A>T;NM_001144966:exon22:c.1823-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.1994-2A>T;ENST00000400345:exon23:c.2186-2A>T;ENST00000256832:exon23:c.1766-2A>T;ENST00000382850:exon22:c.2126-2A>T;ENST00000256830:exon20:c.1874-2A>T;ENST00000456986:exon23:c.1823-2A>T;ENST00000357895:exon23:c.2162-2A>T;ENST00000435432:exon23:c.1763-2A>T;ENST00000586263:exon22:c.2102-2A>T;ENST00000456173:exon21:c.1763-2A>T;ENST00000431212:exon22:c.1823-2A>T;ENST00000587881:exon12:c.1178-2A>T)	.	.	0.999988247793601	0.93
18	56037628	G	A	18	58370396	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2186-1G>A;NM_001243960:exon21:c.1994-1G>A;NM_015277:exon22:c.2126-1G>A;NM_001144964:exon23:c.1823-1G>A;NM_001144968:exon23:c.2162-1G>A;NM_001144965:exon23:c.1823-1G>A;NM_001144971:exon23:c.1763-1G>A;NM_001144969:exon22:c.2102-1G>A;NM_001144970:exon21:c.1763-1G>A;NM_001144966:exon22:c.1823-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.1994-1G>A;ENST00000400345:exon23:c.2186-1G>A;ENST00000256832:exon23:c.1766-1G>A;ENST00000382850:exon22:c.2126-1G>A;ENST00000256830:exon20:c.1874-1G>A;ENST00000456986:exon23:c.1823-1G>A;ENST00000357895:exon23:c.2162-1G>A;ENST00000435432:exon23:c.1763-1G>A;ENST00000586263:exon22:c.2102-1G>A;ENST00000456173:exon21:c.1763-1G>A;ENST00000431212:exon22:c.1823-1G>A;ENST00000587881:exon12:c.1178-1G>A)	.	.	0.999989072007339	0.934
18	56037628	G	C	18	58370396	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2186-1G>C;NM_001243960:exon21:c.1994-1G>C;NM_015277:exon22:c.2126-1G>C;NM_001144964:exon23:c.1823-1G>C;NM_001144968:exon23:c.2162-1G>C;NM_001144965:exon23:c.1823-1G>C;NM_001144971:exon23:c.1763-1G>C;NM_001144969:exon22:c.2102-1G>C;NM_001144970:exon21:c.1763-1G>C;NM_001144966:exon22:c.1823-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.1994-1G>C;ENST00000400345:exon23:c.2186-1G>C;ENST00000256832:exon23:c.1766-1G>C;ENST00000382850:exon22:c.2126-1G>C;ENST00000256830:exon20:c.1874-1G>C;ENST00000456986:exon23:c.1823-1G>C;ENST00000357895:exon23:c.2162-1G>C;ENST00000435432:exon23:c.1763-1G>C;ENST00000586263:exon22:c.2102-1G>C;ENST00000456173:exon21:c.1763-1G>C;ENST00000431212:exon22:c.1823-1G>C;ENST00000587881:exon12:c.1178-1G>C)	.	.	0.999989072007339	0.934
18	56037628	G	T	18	58370396	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2186-1G>T;NM_001243960:exon21:c.1994-1G>T;NM_015277:exon22:c.2126-1G>T;NM_001144964:exon23:c.1823-1G>T;NM_001144968:exon23:c.2162-1G>T;NM_001144965:exon23:c.1823-1G>T;NM_001144971:exon23:c.1763-1G>T;NM_001144969:exon22:c.2102-1G>T;NM_001144970:exon21:c.1763-1G>T;NM_001144966:exon22:c.1823-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.1994-1G>T;ENST00000400345:exon23:c.2186-1G>T;ENST00000256832:exon23:c.1766-1G>T;ENST00000382850:exon22:c.2126-1G>T;ENST00000256830:exon20:c.1874-1G>T;ENST00000456986:exon23:c.1823-1G>T;ENST00000357895:exon23:c.2162-1G>T;ENST00000435432:exon23:c.1763-1G>T;ENST00000586263:exon22:c.2102-1G>T;ENST00000456173:exon21:c.1763-1G>T;ENST00000431212:exon22:c.1823-1G>T;ENST00000587881:exon12:c.1178-1G>T)	.	.	0.999989072007339	0.934
18	56037629	G	A	18	58370397	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.G2102A:p.G701D;NEDD4L:NM_001144964:exon23:c.G1823A:p.G608D;NEDD4L:NM_015277:exon22:c.G2126A:p.G709D;NEDD4L:NM_001144967:exon23:c.G2186A:p.G729D;NEDD4L:NM_001144971:exon23:c.G1763A:p.G588D;NEDD4L:NM_001144968:exon23:c.G2162A:p.G721D;NEDD4L:NM_001144970:exon21:c.G1763A:p.G588D;NEDD4L:NM_001144965:exon23:c.G1823A:p.G608D;NEDD4L:NM_001144966:exon22:c.G1823A:p.G608D;NEDD4L:NM_001243960:exon21:c.G1994A:p.G665D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1178A:p.G393D;ENSG00000049759:ENST00000435432:exon23:c.G1763A:p.G588D;ENSG00000049759:ENST00000382850:exon22:c.G2126A:p.G709D;ENSG00000049759:ENST00000456986:exon23:c.G1823A:p.G608D;ENSG00000049759:ENST00000256830:exon20:c.G1874A:p.G625D;ENSG00000049759:ENST00000456173:exon21:c.G1763A:p.G588D;ENSG00000049759:ENST00000357895:exon23:c.G2162A:p.G721D;ENSG00000049759:ENST00000256832:exon23:c.G1766A:p.G589D;ENSG00000049759:ENST00000431212:exon22:c.G1823A:p.G608D;ENSG00000049759:ENST00000356462:exon21:c.G1994A:p.G665D;ENSG00000049759:ENST00000400345:exon23:c.G2186A:p.G729D;ENSG00000049759:ENST00000586263:exon22:c.G2102A:p.G701D;	0.999570575187292	0.926
18	56037629	G	C	18	58370397	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.G2102C:p.G701A;NEDD4L:NM_001144964:exon23:c.G1823C:p.G608A;NEDD4L:NM_015277:exon22:c.G2126C:p.G709A;NEDD4L:NM_001144967:exon23:c.G2186C:p.G729A;NEDD4L:NM_001144971:exon23:c.G1763C:p.G588A;NEDD4L:NM_001144968:exon23:c.G2162C:p.G721A;NEDD4L:NM_001144970:exon21:c.G1763C:p.G588A;NEDD4L:NM_001144965:exon23:c.G1823C:p.G608A;NEDD4L:NM_001144966:exon22:c.G1823C:p.G608A;NEDD4L:NM_001243960:exon21:c.G1994C:p.G665A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1178C:p.G393A;ENSG00000049759:ENST00000435432:exon23:c.G1763C:p.G588A;ENSG00000049759:ENST00000382850:exon22:c.G2126C:p.G709A;ENSG00000049759:ENST00000456986:exon23:c.G1823C:p.G608A;ENSG00000049759:ENST00000256830:exon20:c.G1874C:p.G625A;ENSG00000049759:ENST00000456173:exon21:c.G1763C:p.G588A;ENSG00000049759:ENST00000357895:exon23:c.G2162C:p.G721A;ENSG00000049759:ENST00000256832:exon23:c.G1766C:p.G589A;ENSG00000049759:ENST00000431212:exon22:c.G1823C:p.G608A;ENSG00000049759:ENST00000356462:exon21:c.G1994C:p.G665A;ENSG00000049759:ENST00000400345:exon23:c.G2186C:p.G729A;ENSG00000049759:ENST00000586263:exon22:c.G2102C:p.G701A;	0.982052166646846	0.604
18	56037629	G	T	18	58370397	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.G2102T:p.G701V;NEDD4L:NM_001144964:exon23:c.G1823T:p.G608V;NEDD4L:NM_015277:exon22:c.G2126T:p.G709V;NEDD4L:NM_001144967:exon23:c.G2186T:p.G729V;NEDD4L:NM_001144971:exon23:c.G1763T:p.G588V;NEDD4L:NM_001144968:exon23:c.G2162T:p.G721V;NEDD4L:NM_001144970:exon21:c.G1763T:p.G588V;NEDD4L:NM_001144965:exon23:c.G1823T:p.G608V;NEDD4L:NM_001144966:exon22:c.G1823T:p.G608V;NEDD4L:NM_001243960:exon21:c.G1994T:p.G665V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1178T:p.G393V;ENSG00000049759:ENST00000435432:exon23:c.G1763T:p.G588V;ENSG00000049759:ENST00000382850:exon22:c.G2126T:p.G709V;ENSG00000049759:ENST00000456986:exon23:c.G1823T:p.G608V;ENSG00000049759:ENST00000256830:exon20:c.G1874T:p.G625V;ENSG00000049759:ENST00000456173:exon21:c.G1763T:p.G588V;ENSG00000049759:ENST00000357895:exon23:c.G2162T:p.G721V;ENSG00000049759:ENST00000256832:exon23:c.G1766T:p.G589V;ENSG00000049759:ENST00000431212:exon22:c.G1823T:p.G608V;ENSG00000049759:ENST00000356462:exon21:c.G1994T:p.G665V;ENSG00000049759:ENST00000400345:exon23:c.G2186T:p.G729V;ENSG00000049759:ENST00000586263:exon22:c.G2102T:p.G701V;	0.999912969786031	0.978
18	56037630	T	A	18	58370398	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon22:c.T2103A:p.G701G;NEDD4L:NM_001144964:exon23:c.T1824A:p.G608G;NEDD4L:NM_015277:exon22:c.T2127A:p.G709G;NEDD4L:NM_001144967:exon23:c.T2187A:p.G729G;NEDD4L:NM_001144971:exon23:c.T1764A:p.G588G;NEDD4L:NM_001144968:exon23:c.T2163A:p.G721G;NEDD4L:NM_001144970:exon21:c.T1764A:p.G588G;NEDD4L:NM_001144965:exon23:c.T1824A:p.G608G;NEDD4L:NM_001144966:exon22:c.T1824A:p.G608G;NEDD4L:NM_001243960:exon21:c.T1995A:p.G665G;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.T1179A:p.G393G;ENSG00000049759:ENST00000435432:exon23:c.T1764A:p.G588G;ENSG00000049759:ENST00000382850:exon22:c.T2127A:p.G709G;ENSG00000049759:ENST00000456986:exon23:c.T1824A:p.G608G;ENSG00000049759:ENST00000256830:exon20:c.T1875A:p.G625G;ENSG00000049759:ENST00000456173:exon21:c.T1764A:p.G588G;ENSG00000049759:ENST00000357895:exon23:c.T2163A:p.G721G;ENSG00000049759:ENST00000256832:exon23:c.T1767A:p.G589G;ENSG00000049759:ENST00000431212:exon22:c.T1824A:p.G608G;ENSG00000049759:ENST00000356462:exon21:c.T1995A:p.G665G;ENSG00000049759:ENST00000400345:exon23:c.T2187A:p.G729G;ENSG00000049759:ENST00000586263:exon22:c.T2103A:p.G701G;	0.00128206734060787	0.114
18	56037630	T	C	18	58370398	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon22:c.T2103C:p.G701G;NEDD4L:NM_001144964:exon23:c.T1824C:p.G608G;NEDD4L:NM_015277:exon22:c.T2127C:p.G709G;NEDD4L:NM_001144967:exon23:c.T2187C:p.G729G;NEDD4L:NM_001144971:exon23:c.T1764C:p.G588G;NEDD4L:NM_001144968:exon23:c.T2163C:p.G721G;NEDD4L:NM_001144970:exon21:c.T1764C:p.G588G;NEDD4L:NM_001144965:exon23:c.T1824C:p.G608G;NEDD4L:NM_001144966:exon22:c.T1824C:p.G608G;NEDD4L:NM_001243960:exon21:c.T1995C:p.G665G;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.T1179C:p.G393G;ENSG00000049759:ENST00000435432:exon23:c.T1764C:p.G588G;ENSG00000049759:ENST00000382850:exon22:c.T2127C:p.G709G;ENSG00000049759:ENST00000456986:exon23:c.T1824C:p.G608G;ENSG00000049759:ENST00000256830:exon20:c.T1875C:p.G625G;ENSG00000049759:ENST00000456173:exon21:c.T1764C:p.G588G;ENSG00000049759:ENST00000357895:exon23:c.T2163C:p.G721G;ENSG00000049759:ENST00000256832:exon23:c.T1767C:p.G589G;ENSG00000049759:ENST00000431212:exon22:c.T1824C:p.G608G;ENSG00000049759:ENST00000356462:exon21:c.T1995C:p.G665G;ENSG00000049759:ENST00000400345:exon23:c.T2187C:p.G729G;ENSG00000049759:ENST00000586263:exon22:c.T2103C:p.G701G;	0.00236705391870605	0.196
18	56037630	T	G	18	58370398	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon22:c.T2103G:p.G701G;NEDD4L:NM_001144964:exon23:c.T1824G:p.G608G;NEDD4L:NM_015277:exon22:c.T2127G:p.G709G;NEDD4L:NM_001144967:exon23:c.T2187G:p.G729G;NEDD4L:NM_001144971:exon23:c.T1764G:p.G588G;NEDD4L:NM_001144968:exon23:c.T2163G:p.G721G;NEDD4L:NM_001144970:exon21:c.T1764G:p.G588G;NEDD4L:NM_001144965:exon23:c.T1824G:p.G608G;NEDD4L:NM_001144966:exon22:c.T1824G:p.G608G;NEDD4L:NM_001243960:exon21:c.T1995G:p.G665G;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.T1179G:p.G393G;ENSG00000049759:ENST00000435432:exon23:c.T1764G:p.G588G;ENSG00000049759:ENST00000382850:exon22:c.T2127G:p.G709G;ENSG00000049759:ENST00000456986:exon23:c.T1824G:p.G608G;ENSG00000049759:ENST00000256830:exon20:c.T1875G:p.G625G;ENSG00000049759:ENST00000456173:exon21:c.T1764G:p.G588G;ENSG00000049759:ENST00000357895:exon23:c.T2163G:p.G721G;ENSG00000049759:ENST00000256832:exon23:c.T1767G:p.G589G;ENSG00000049759:ENST00000431212:exon22:c.T1824G:p.G608G;ENSG00000049759:ENST00000356462:exon21:c.T1995G:p.G665G;ENSG00000049759:ENST00000400345:exon23:c.T2187G:p.G729G;ENSG00000049759:ENST00000586263:exon22:c.T2103G:p.G701G;	9.60105430738366E-4	0.158
18	56037697	G	A	18	58370465	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.G2170A:p.V724M;NEDD4L:NM_001144964:exon23:c.G1891A:p.V631M;NEDD4L:NM_015277:exon22:c.G2194A:p.V732M;NEDD4L:NM_001144967:exon23:c.G2254A:p.V752M;NEDD4L:NM_001144971:exon23:c.G1831A:p.V611M;NEDD4L:NM_001144968:exon23:c.G2230A:p.V744M;NEDD4L:NM_001144970:exon21:c.G1831A:p.V611M;NEDD4L:NM_001144965:exon23:c.G1891A:p.V631M;NEDD4L:NM_001144966:exon22:c.G1891A:p.V631M;NEDD4L:NM_001243960:exon21:c.G2062A:p.V688M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1246A:p.V416M;ENSG00000049759:ENST00000435432:exon23:c.G1831A:p.V611M;ENSG00000049759:ENST00000382850:exon22:c.G2194A:p.V732M;ENSG00000049759:ENST00000456986:exon23:c.G1891A:p.V631M;ENSG00000049759:ENST00000256830:exon20:c.G1942A:p.V648M;ENSG00000049759:ENST00000456173:exon21:c.G1831A:p.V611M;ENSG00000049759:ENST00000357895:exon23:c.G2230A:p.V744M;ENSG00000049759:ENST00000256832:exon23:c.G1834A:p.V612M;ENSG00000049759:ENST00000431212:exon22:c.G1891A:p.V631M;ENSG00000049759:ENST00000356462:exon21:c.G2062A:p.V688M;ENSG00000049759:ENST00000400345:exon23:c.G2254A:p.V752M;ENSG00000049759:ENST00000586263:exon22:c.G2170A:p.V724M;	0.965876788483062	0.814
18	56037697	G	C	18	58370465	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.G2170C:p.V724L;NEDD4L:NM_001144964:exon23:c.G1891C:p.V631L;NEDD4L:NM_015277:exon22:c.G2194C:p.V732L;NEDD4L:NM_001144967:exon23:c.G2254C:p.V752L;NEDD4L:NM_001144971:exon23:c.G1831C:p.V611L;NEDD4L:NM_001144968:exon23:c.G2230C:p.V744L;NEDD4L:NM_001144970:exon21:c.G1831C:p.V611L;NEDD4L:NM_001144965:exon23:c.G1891C:p.V631L;NEDD4L:NM_001144966:exon22:c.G1891C:p.V631L;NEDD4L:NM_001243960:exon21:c.G2062C:p.V688L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1246C:p.V416L;ENSG00000049759:ENST00000435432:exon23:c.G1831C:p.V611L;ENSG00000049759:ENST00000382850:exon22:c.G2194C:p.V732L;ENSG00000049759:ENST00000456986:exon23:c.G1891C:p.V631L;ENSG00000049759:ENST00000256830:exon20:c.G1942C:p.V648L;ENSG00000049759:ENST00000456173:exon21:c.G1831C:p.V611L;ENSG00000049759:ENST00000357895:exon23:c.G2230C:p.V744L;ENSG00000049759:ENST00000256832:exon23:c.G1834C:p.V612L;ENSG00000049759:ENST00000431212:exon22:c.G1891C:p.V631L;ENSG00000049759:ENST00000356462:exon21:c.G2062C:p.V688L;ENSG00000049759:ENST00000400345:exon23:c.G2254C:p.V752L;ENSG00000049759:ENST00000586263:exon22:c.G2170C:p.V724L;	0.965876788483062	0.794
18	56037697	G	T	18	58370465	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.G2170T:p.V724L;NEDD4L:NM_001144964:exon23:c.G1891T:p.V631L;NEDD4L:NM_015277:exon22:c.G2194T:p.V732L;NEDD4L:NM_001144967:exon23:c.G2254T:p.V752L;NEDD4L:NM_001144971:exon23:c.G1831T:p.V611L;NEDD4L:NM_001144968:exon23:c.G2230T:p.V744L;NEDD4L:NM_001144970:exon21:c.G1831T:p.V611L;NEDD4L:NM_001144965:exon23:c.G1891T:p.V631L;NEDD4L:NM_001144966:exon22:c.G1891T:p.V631L;NEDD4L:NM_001243960:exon21:c.G2062T:p.V688L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1246T:p.V416L;ENSG00000049759:ENST00000435432:exon23:c.G1831T:p.V611L;ENSG00000049759:ENST00000382850:exon22:c.G2194T:p.V732L;ENSG00000049759:ENST00000456986:exon23:c.G1891T:p.V631L;ENSG00000049759:ENST00000256830:exon20:c.G1942T:p.V648L;ENSG00000049759:ENST00000456173:exon21:c.G1831T:p.V611L;ENSG00000049759:ENST00000357895:exon23:c.G2230T:p.V744L;ENSG00000049759:ENST00000256832:exon23:c.G1834T:p.V612L;ENSG00000049759:ENST00000431212:exon22:c.G1891T:p.V631L;ENSG00000049759:ENST00000356462:exon21:c.G2062T:p.V688L;ENSG00000049759:ENST00000400345:exon23:c.G2254T:p.V752L;ENSG00000049759:ENST00000586263:exon22:c.G2170T:p.V724L;	0.990168528908027	0.938
18	56037698	T	A	18	58370466	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.T2171A:p.V724E;NEDD4L:NM_001144964:exon23:c.T1892A:p.V631E;NEDD4L:NM_015277:exon22:c.T2195A:p.V732E;NEDD4L:NM_001144967:exon23:c.T2255A:p.V752E;NEDD4L:NM_001144971:exon23:c.T1832A:p.V611E;NEDD4L:NM_001144968:exon23:c.T2231A:p.V744E;NEDD4L:NM_001144970:exon21:c.T1832A:p.V611E;NEDD4L:NM_001144965:exon23:c.T1892A:p.V631E;NEDD4L:NM_001144966:exon22:c.T1892A:p.V631E;NEDD4L:NM_001243960:exon21:c.T2063A:p.V688E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.T1247A:p.V416E;ENSG00000049759:ENST00000435432:exon23:c.T1832A:p.V611E;ENSG00000049759:ENST00000382850:exon22:c.T2195A:p.V732E;ENSG00000049759:ENST00000456986:exon23:c.T1892A:p.V631E;ENSG00000049759:ENST00000256830:exon20:c.T1943A:p.V648E;ENSG00000049759:ENST00000456173:exon21:c.T1832A:p.V611E;ENSG00000049759:ENST00000357895:exon23:c.T2231A:p.V744E;ENSG00000049759:ENST00000256832:exon23:c.T1835A:p.V612E;ENSG00000049759:ENST00000431212:exon22:c.T1892A:p.V631E;ENSG00000049759:ENST00000356462:exon21:c.T2063A:p.V688E;ENSG00000049759:ENST00000400345:exon23:c.T2255A:p.V752E;ENSG00000049759:ENST00000586263:exon22:c.T2171A:p.V724E;	0.830814992251054	0.636
18	56037698	T	C	18	58370466	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.T2171C:p.V724A;NEDD4L:NM_001144964:exon23:c.T1892C:p.V631A;NEDD4L:NM_015277:exon22:c.T2195C:p.V732A;NEDD4L:NM_001144967:exon23:c.T2255C:p.V752A;NEDD4L:NM_001144971:exon23:c.T1832C:p.V611A;NEDD4L:NM_001144968:exon23:c.T2231C:p.V744A;NEDD4L:NM_001144970:exon21:c.T1832C:p.V611A;NEDD4L:NM_001144965:exon23:c.T1892C:p.V631A;NEDD4L:NM_001144966:exon22:c.T1892C:p.V631A;NEDD4L:NM_001243960:exon21:c.T2063C:p.V688A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.T1247C:p.V416A;ENSG00000049759:ENST00000435432:exon23:c.T1832C:p.V611A;ENSG00000049759:ENST00000382850:exon22:c.T2195C:p.V732A;ENSG00000049759:ENST00000456986:exon23:c.T1892C:p.V631A;ENSG00000049759:ENST00000256830:exon20:c.T1943C:p.V648A;ENSG00000049759:ENST00000456173:exon21:c.T1832C:p.V611A;ENSG00000049759:ENST00000357895:exon23:c.T2231C:p.V744A;ENSG00000049759:ENST00000256832:exon23:c.T1835C:p.V612A;ENSG00000049759:ENST00000431212:exon22:c.T1892C:p.V631A;ENSG00000049759:ENST00000356462:exon21:c.T2063C:p.V688A;ENSG00000049759:ENST00000400345:exon23:c.T2255C:p.V752A;ENSG00000049759:ENST00000586263:exon22:c.T2171C:p.V724A;	0.975416997726996	0.844
18	56037698	T	G	18	58370466	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon22:c.T2171G:p.V724G;NEDD4L:NM_001144964:exon23:c.T1892G:p.V631G;NEDD4L:NM_015277:exon22:c.T2195G:p.V732G;NEDD4L:NM_001144967:exon23:c.T2255G:p.V752G;NEDD4L:NM_001144971:exon23:c.T1832G:p.V611G;NEDD4L:NM_001144968:exon23:c.T2231G:p.V744G;NEDD4L:NM_001144970:exon21:c.T1832G:p.V611G;NEDD4L:NM_001144965:exon23:c.T1892G:p.V631G;NEDD4L:NM_001144966:exon22:c.T1892G:p.V631G;NEDD4L:NM_001243960:exon21:c.T2063G:p.V688G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.T1247G:p.V416G;ENSG00000049759:ENST00000435432:exon23:c.T1832G:p.V611G;ENSG00000049759:ENST00000382850:exon22:c.T2195G:p.V732G;ENSG00000049759:ENST00000456986:exon23:c.T1892G:p.V631G;ENSG00000049759:ENST00000256830:exon20:c.T1943G:p.V648G;ENSG00000049759:ENST00000456173:exon21:c.T1832G:p.V611G;ENSG00000049759:ENST00000357895:exon23:c.T2231G:p.V744G;ENSG00000049759:ENST00000256832:exon23:c.T1835G:p.V612G;ENSG00000049759:ENST00000431212:exon22:c.T1892G:p.V631G;ENSG00000049759:ENST00000356462:exon21:c.T2063G:p.V688G;ENSG00000049759:ENST00000400345:exon23:c.T2255G:p.V752G;ENSG00000049759:ENST00000586263:exon22:c.T2171G:p.V724G;	0.981924508748629	0.832
18	56037699	G	A	18	58370467	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon22:c.G2172A:p.V724V;NEDD4L:NM_001144964:exon23:c.G1893A:p.V631V;NEDD4L:NM_015277:exon22:c.G2196A:p.V732V;NEDD4L:NM_001144967:exon23:c.G2256A:p.V752V;NEDD4L:NM_001144971:exon23:c.G1833A:p.V611V;NEDD4L:NM_001144968:exon23:c.G2232A:p.V744V;NEDD4L:NM_001144970:exon21:c.G1833A:p.V611V;NEDD4L:NM_001144965:exon23:c.G1893A:p.V631V;NEDD4L:NM_001144966:exon22:c.G1893A:p.V631V;NEDD4L:NM_001243960:exon21:c.G2064A:p.V688V;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1248A:p.V416V;ENSG00000049759:ENST00000435432:exon23:c.G1833A:p.V611V;ENSG00000049759:ENST00000382850:exon22:c.G2196A:p.V732V;ENSG00000049759:ENST00000456986:exon23:c.G1893A:p.V631V;ENSG00000049759:ENST00000256830:exon20:c.G1944A:p.V648V;ENSG00000049759:ENST00000456173:exon21:c.G1833A:p.V611V;ENSG00000049759:ENST00000357895:exon23:c.G2232A:p.V744V;ENSG00000049759:ENST00000256832:exon23:c.G1836A:p.V612V;ENSG00000049759:ENST00000431212:exon22:c.G1893A:p.V631V;ENSG00000049759:ENST00000356462:exon21:c.G2064A:p.V688V;ENSG00000049759:ENST00000400345:exon23:c.G2256A:p.V752V;ENSG00000049759:ENST00000586263:exon22:c.G2172A:p.V724V;	0.999638951470029	0.954
18	56037699	G	C	18	58370467	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon22:c.G2172C:p.V724V;NEDD4L:NM_001144964:exon23:c.G1893C:p.V631V;NEDD4L:NM_015277:exon22:c.G2196C:p.V732V;NEDD4L:NM_001144967:exon23:c.G2256C:p.V752V;NEDD4L:NM_001144971:exon23:c.G1833C:p.V611V;NEDD4L:NM_001144968:exon23:c.G2232C:p.V744V;NEDD4L:NM_001144970:exon21:c.G1833C:p.V611V;NEDD4L:NM_001144965:exon23:c.G1893C:p.V631V;NEDD4L:NM_001144966:exon22:c.G1893C:p.V631V;NEDD4L:NM_001243960:exon21:c.G2064C:p.V688V;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1248C:p.V416V;ENSG00000049759:ENST00000435432:exon23:c.G1833C:p.V611V;ENSG00000049759:ENST00000382850:exon22:c.G2196C:p.V732V;ENSG00000049759:ENST00000456986:exon23:c.G1893C:p.V631V;ENSG00000049759:ENST00000256830:exon20:c.G1944C:p.V648V;ENSG00000049759:ENST00000456173:exon21:c.G1833C:p.V611V;ENSG00000049759:ENST00000357895:exon23:c.G2232C:p.V744V;ENSG00000049759:ENST00000256832:exon23:c.G1836C:p.V612V;ENSG00000049759:ENST00000431212:exon22:c.G1893C:p.V631V;ENSG00000049759:ENST00000356462:exon21:c.G2064C:p.V688V;ENSG00000049759:ENST00000400345:exon23:c.G2256C:p.V752V;ENSG00000049759:ENST00000586263:exon22:c.G2172C:p.V724V;	0.999773012377162	0.952
18	56037699	G	T	18	58370467	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon22:c.G2172T:p.V724V;NEDD4L:NM_001144964:exon23:c.G1893T:p.V631V;NEDD4L:NM_015277:exon22:c.G2196T:p.V732V;NEDD4L:NM_001144967:exon23:c.G2256T:p.V752V;NEDD4L:NM_001144971:exon23:c.G1833T:p.V611V;NEDD4L:NM_001144968:exon23:c.G2232T:p.V744V;NEDD4L:NM_001144970:exon21:c.G1833T:p.V611V;NEDD4L:NM_001144965:exon23:c.G1893T:p.V631V;NEDD4L:NM_001144966:exon22:c.G1893T:p.V631V;NEDD4L:NM_001243960:exon21:c.G2064T:p.V688V;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon12:c.G1248T:p.V416V;ENSG00000049759:ENST00000435432:exon23:c.G1833T:p.V611V;ENSG00000049759:ENST00000382850:exon22:c.G2196T:p.V732V;ENSG00000049759:ENST00000456986:exon23:c.G1893T:p.V631V;ENSG00000049759:ENST00000256830:exon20:c.G1944T:p.V648V;ENSG00000049759:ENST00000456173:exon21:c.G1833T:p.V611V;ENSG00000049759:ENST00000357895:exon23:c.G2232T:p.V744V;ENSG00000049759:ENST00000256832:exon23:c.G1836T:p.V612V;ENSG00000049759:ENST00000431212:exon22:c.G1893T:p.V631V;ENSG00000049759:ENST00000356462:exon21:c.G2064T:p.V688V;ENSG00000049759:ENST00000400345:exon23:c.G2256T:p.V752V;ENSG00000049759:ENST00000586263:exon22:c.G2172T:p.V724V;	0.999253812699991	0.938
18	56037700	G	A	18	58370468	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2256+1G>A;NM_001243960:exon21:c.2064+1G>A;NM_015277:exon22:c.2196+1G>A;NM_001144964:exon23:c.1893+1G>A;NM_001144968:exon23:c.2232+1G>A;NM_001144965:exon23:c.1893+1G>A;NM_001144971:exon23:c.1833+1G>A;NM_001144969:exon22:c.2172+1G>A;NM_001144970:exon21:c.1833+1G>A;NM_001144966:exon22:c.1893+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.2064+1G>A;ENST00000400345:exon23:c.2256+1G>A;ENST00000256832:exon23:c.1836+1G>A;ENST00000382850:exon22:c.2196+1G>A;ENST00000256830:exon20:c.1944+1G>A;ENST00000456986:exon23:c.1893+1G>A;ENST00000357895:exon23:c.2232+1G>A;ENST00000435432:exon23:c.1833+1G>A;ENST00000586263:exon22:c.2172+1G>A;ENST00000456173:exon21:c.1833+1G>A;ENST00000431212:exon22:c.1893+1G>A;ENST00000587881:exon12:c.1248+1G>A)	.	.	0.999989072007339	0.934
18	56037700	G	C	18	58370468	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2256+1G>C;NM_001243960:exon21:c.2064+1G>C;NM_015277:exon22:c.2196+1G>C;NM_001144964:exon23:c.1893+1G>C;NM_001144968:exon23:c.2232+1G>C;NM_001144965:exon23:c.1893+1G>C;NM_001144971:exon23:c.1833+1G>C;NM_001144969:exon22:c.2172+1G>C;NM_001144970:exon21:c.1833+1G>C;NM_001144966:exon22:c.1893+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.2064+1G>C;ENST00000400345:exon23:c.2256+1G>C;ENST00000256832:exon23:c.1836+1G>C;ENST00000382850:exon22:c.2196+1G>C;ENST00000256830:exon20:c.1944+1G>C;ENST00000456986:exon23:c.1893+1G>C;ENST00000357895:exon23:c.2232+1G>C;ENST00000435432:exon23:c.1833+1G>C;ENST00000586263:exon22:c.2172+1G>C;ENST00000456173:exon21:c.1833+1G>C;ENST00000431212:exon22:c.1893+1G>C;ENST00000587881:exon12:c.1248+1G>C)	.	.	0.999989072007339	0.934
18	56037700	G	T	18	58370468	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2256+1G>T;NM_001243960:exon21:c.2064+1G>T;NM_015277:exon22:c.2196+1G>T;NM_001144964:exon23:c.1893+1G>T;NM_001144968:exon23:c.2232+1G>T;NM_001144965:exon23:c.1893+1G>T;NM_001144971:exon23:c.1833+1G>T;NM_001144969:exon22:c.2172+1G>T;NM_001144970:exon21:c.1833+1G>T;NM_001144966:exon22:c.1893+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.2064+1G>T;ENST00000400345:exon23:c.2256+1G>T;ENST00000256832:exon23:c.1836+1G>T;ENST00000382850:exon22:c.2196+1G>T;ENST00000256830:exon20:c.1944+1G>T;ENST00000456986:exon23:c.1893+1G>T;ENST00000357895:exon23:c.2232+1G>T;ENST00000435432:exon23:c.1833+1G>T;ENST00000586263:exon22:c.2172+1G>T;ENST00000456173:exon21:c.1833+1G>T;ENST00000431212:exon22:c.1893+1G>T;ENST00000587881:exon12:c.1248+1G>T)	.	.	0.999989072007339	0.934
18	56037701	T	A	18	58370469	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2256+2T>A;NM_001243960:exon21:c.2064+2T>A;NM_015277:exon22:c.2196+2T>A;NM_001144964:exon23:c.1893+2T>A;NM_001144968:exon23:c.2232+2T>A;NM_001144965:exon23:c.1893+2T>A;NM_001144971:exon23:c.1833+2T>A;NM_001144969:exon22:c.2172+2T>A;NM_001144970:exon21:c.1833+2T>A;NM_001144966:exon22:c.1893+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.2064+2T>A;ENST00000400345:exon23:c.2256+2T>A;ENST00000256832:exon23:c.1836+2T>A;ENST00000382850:exon22:c.2196+2T>A;ENST00000256830:exon20:c.1944+2T>A;ENST00000456986:exon23:c.1893+2T>A;ENST00000357895:exon23:c.2232+2T>A;ENST00000435432:exon23:c.1833+2T>A;ENST00000586263:exon22:c.2172+2T>A;ENST00000456173:exon21:c.1833+2T>A;ENST00000431212:exon22:c.1893+2T>A;ENST00000587881:exon12:c.1248+2T>A)	.	.	0.999988247793601	0.932
18	56037701	T	C	18	58370469	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2256+2T>C;NM_001243960:exon21:c.2064+2T>C;NM_015277:exon22:c.2196+2T>C;NM_001144964:exon23:c.1893+2T>C;NM_001144968:exon23:c.2232+2T>C;NM_001144965:exon23:c.1893+2T>C;NM_001144971:exon23:c.1833+2T>C;NM_001144969:exon22:c.2172+2T>C;NM_001144970:exon21:c.1833+2T>C;NM_001144966:exon22:c.1893+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.2064+2T>C;ENST00000400345:exon23:c.2256+2T>C;ENST00000256832:exon23:c.1836+2T>C;ENST00000382850:exon22:c.2196+2T>C;ENST00000256830:exon20:c.1944+2T>C;ENST00000456986:exon23:c.1893+2T>C;ENST00000357895:exon23:c.2232+2T>C;ENST00000435432:exon23:c.1833+2T>C;ENST00000586263:exon22:c.2172+2T>C;ENST00000456173:exon21:c.1833+2T>C;ENST00000431212:exon22:c.1893+2T>C;ENST00000587881:exon12:c.1248+2T>C)	.	.	0.996218475494576	0.708
18	56037701	T	G	18	58370469	y	y	splicing	NEDD4L(NM_001144967:exon23:c.2256+2T>G;NM_001243960:exon21:c.2064+2T>G;NM_015277:exon22:c.2196+2T>G;NM_001144964:exon23:c.1893+2T>G;NM_001144968:exon23:c.2232+2T>G;NM_001144965:exon23:c.1893+2T>G;NM_001144971:exon23:c.1833+2T>G;NM_001144969:exon22:c.2172+2T>G;NM_001144970:exon21:c.1833+2T>G;NM_001144966:exon22:c.1893+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon21:c.2064+2T>G;ENST00000400345:exon23:c.2256+2T>G;ENST00000256832:exon23:c.1836+2T>G;ENST00000382850:exon22:c.2196+2T>G;ENST00000256830:exon20:c.1944+2T>G;ENST00000456986:exon23:c.1893+2T>G;ENST00000357895:exon23:c.2232+2T>G;ENST00000435432:exon23:c.1833+2T>G;ENST00000586263:exon22:c.2172+2T>G;ENST00000456173:exon21:c.1833+2T>G;ENST00000431212:exon22:c.1893+2T>G;ENST00000587881:exon12:c.1248+2T>G)	.	.	0.999988247793601	0.932
18	56037702	A	C	18	58370470	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.82923168058684	0.484
18	56037702	A	G	18	58370470	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00204424259164973	0.03
18	56037702	A	T	18	58370470	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.785383874898779	0.454
18	56037703	A	C	18	58370471	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996986265768301	0.84
18	56037703	A	G	18	58370471	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997280780692313	0.86
18	56037703	A	T	18	58370471	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998032471488618	0.862
18	56037704	G	A	18	58370472	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999876913381869	0.824
18	56037704	G	C	18	58370472	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999632884139018	0.856
18	56037704	G	T	18	58370472	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999298901598082	0.734
18	56037705	T	A	18	58370473	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.457000491853022	0.486
18	56037705	T	C	18	58370473	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.44564594666349	0.546
18	56037705	T	G	18	58370473	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.155491091801464	0.404
18	56037706	A	C	18	58370474	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.36191216666156E-5	0.0
18	56037706	A	G	18	58370474	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.33852833132947E-5	0.004
18	56037706	A	T	18	58370474	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.46971118483906E-5	0.004
18	56037707	A	C	18	58370475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.49218586110481E-5	0.0
18	56037707	A	G	18	58370475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.95145951409719E-5	0.0
18	56037707	A	T	18	58370475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.49218586110481E-5	0.0
18	56040394	G	A	18	58373162	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.87248538845396E-5	0.004
18	56040394	G	C	18	58373162	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.12757436219751E-4	0.0
18	56040394	G	T	18	58373162	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.11064346049017E-4	0.008
18	56040395	T	A	18	58373163	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.724103152558616	0.766
18	56040395	T	C	18	58373163	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0183568346932531	0.248
18	56040395	T	G	18	58373163	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.656842964697762	0.662
18	56040396	C	A	18	58373164	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0125162609312923	0.16
18	56040396	C	G	18	58373164	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.003194061776577	0.132
18	56040396	C	T	18	58373164	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.6792666923673E-5	0.0
18	56040397	A	C	18	58373165	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.64616273593571E-5	0.0
18	56040397	A	G	18	58373165	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.97110322520382E-5	0.0
18	56040397	A	T	18	58373165	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.00505648714964E-4	0.01
18	56040398	T	A	18	58373166	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00172344514476631	0.03
18	56040398	T	C	18	58373166	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.26003682500001E-5	0.034
18	56040398	T	G	18	58373166	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.986372563567986	0.894
18	56040399	T	A	18	58373167	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00127641403055509	0.058
18	56040399	T	C	18	58373167	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.58897341033962E-5	0.0
18	56040399	T	G	18	58373167	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.1643106248295E-4	0.048
18	56040400	C	A	18	58373168	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00709804850974503	0.214
18	56040400	C	G	18	58373168	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00531302639486624	0.196
18	56040400	C	T	18	58373168	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.13101552177265E-5	0.0
18	56040401	T	A	18	58373169	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999935548574487	0.93
18	56040401	T	C	18	58373169	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.88717184038645E-4	0.036
18	56040401	T	G	18	58373169	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.87620668387368	0.43
18	56040402	G	A	18	58373170	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.57736679823038E-6	0.0
18	56040402	G	C	18	58373170	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.48064695835003E-6	0.0
18	56040402	G	T	18	58373170	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.06341561599038E-6	0.0
18	56040403	T	A	18	58373171	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00964254677567899	0.256
18	56040403	T	C	18	58373171	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.79593375697859E-4	0.002
18	56040403	T	G	18	58373171	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.976392495885145	0.73
18	56040404	A	C	18	58373172	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2257-2A>C;NM_001243960:exon22:c.2065-2A>C;NM_015277:exon23:c.2197-2A>C;NM_001144964:exon24:c.1894-2A>C;NM_001144968:exon24:c.2233-2A>C;NM_001144965:exon24:c.1894-2A>C;NM_001144971:exon24:c.1834-2A>C;NM_001144969:exon23:c.2173-2A>C;NM_001144970:exon22:c.1834-2A>C;NM_001144966:exon23:c.1894-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2065-2A>C;ENST00000400345:exon24:c.2257-2A>C;ENST00000256832:exon24:c.1837-2A>C;ENST00000382850:exon23:c.2197-2A>C;ENST00000256830:exon21:c.1945-2A>C;ENST00000456986:exon24:c.1894-2A>C;ENST00000357895:exon24:c.2233-2A>C;ENST00000435432:exon24:c.1834-2A>C;ENST00000586263:exon23:c.2173-2A>C;ENST00000456173:exon22:c.1834-2A>C;ENST00000431212:exon23:c.1894-2A>C;ENST00000587881:exon13:c.1249-2A>C)	.	.	0.999978952611685	0.932
18	56040404	A	G	18	58373172	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2257-2A>G;NM_001243960:exon22:c.2065-2A>G;NM_015277:exon23:c.2197-2A>G;NM_001144964:exon24:c.1894-2A>G;NM_001144968:exon24:c.2233-2A>G;NM_001144965:exon24:c.1894-2A>G;NM_001144971:exon24:c.1834-2A>G;NM_001144969:exon23:c.2173-2A>G;NM_001144970:exon22:c.1834-2A>G;NM_001144966:exon23:c.1894-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2065-2A>G;ENST00000400345:exon24:c.2257-2A>G;ENST00000256832:exon24:c.1837-2A>G;ENST00000382850:exon23:c.2197-2A>G;ENST00000256830:exon21:c.1945-2A>G;ENST00000456986:exon24:c.1894-2A>G;ENST00000357895:exon24:c.2233-2A>G;ENST00000435432:exon24:c.1834-2A>G;ENST00000586263:exon23:c.2173-2A>G;ENST00000456173:exon22:c.1834-2A>G;ENST00000431212:exon23:c.1894-2A>G;ENST00000587881:exon13:c.1249-2A>G)	.	.	0.999978952611685	0.932
18	56040404	A	T	18	58373172	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2257-2A>T;NM_001243960:exon22:c.2065-2A>T;NM_015277:exon23:c.2197-2A>T;NM_001144964:exon24:c.1894-2A>T;NM_001144968:exon24:c.2233-2A>T;NM_001144965:exon24:c.1894-2A>T;NM_001144971:exon24:c.1834-2A>T;NM_001144969:exon23:c.2173-2A>T;NM_001144970:exon22:c.1834-2A>T;NM_001144966:exon23:c.1894-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2065-2A>T;ENST00000400345:exon24:c.2257-2A>T;ENST00000256832:exon24:c.1837-2A>T;ENST00000382850:exon23:c.2197-2A>T;ENST00000256830:exon21:c.1945-2A>T;ENST00000456986:exon24:c.1894-2A>T;ENST00000357895:exon24:c.2233-2A>T;ENST00000435432:exon24:c.1834-2A>T;ENST00000586263:exon23:c.2173-2A>T;ENST00000456173:exon22:c.1834-2A>T;ENST00000431212:exon23:c.1894-2A>T;ENST00000587881:exon13:c.1249-2A>T)	.	.	0.999988247793601	0.93
18	56040405	G	A	18	58373173	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2257-1G>A;NM_001243960:exon22:c.2065-1G>A;NM_015277:exon23:c.2197-1G>A;NM_001144964:exon24:c.1894-1G>A;NM_001144968:exon24:c.2233-1G>A;NM_001144965:exon24:c.1894-1G>A;NM_001144971:exon24:c.1834-1G>A;NM_001144969:exon23:c.2173-1G>A;NM_001144970:exon22:c.1834-1G>A;NM_001144966:exon23:c.1894-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2065-1G>A;ENST00000400345:exon24:c.2257-1G>A;ENST00000256832:exon24:c.1837-1G>A;ENST00000382850:exon23:c.2197-1G>A;ENST00000256830:exon21:c.1945-1G>A;ENST00000456986:exon24:c.1894-1G>A;ENST00000357895:exon24:c.2233-1G>A;ENST00000435432:exon24:c.1834-1G>A;ENST00000586263:exon23:c.2173-1G>A;ENST00000456173:exon22:c.1834-1G>A;ENST00000431212:exon23:c.1894-1G>A;ENST00000587881:exon13:c.1249-1G>A)	.	.	0.999990361384395	0.936
18	56040405	G	C	18	58373173	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2257-1G>C;NM_001243960:exon22:c.2065-1G>C;NM_015277:exon23:c.2197-1G>C;NM_001144964:exon24:c.1894-1G>C;NM_001144968:exon24:c.2233-1G>C;NM_001144965:exon24:c.1894-1G>C;NM_001144971:exon24:c.1834-1G>C;NM_001144969:exon23:c.2173-1G>C;NM_001144970:exon22:c.1834-1G>C;NM_001144966:exon23:c.1894-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2065-1G>C;ENST00000400345:exon24:c.2257-1G>C;ENST00000256832:exon24:c.1837-1G>C;ENST00000382850:exon23:c.2197-1G>C;ENST00000256830:exon21:c.1945-1G>C;ENST00000456986:exon24:c.1894-1G>C;ENST00000357895:exon24:c.2233-1G>C;ENST00000435432:exon24:c.1834-1G>C;ENST00000586263:exon23:c.2173-1G>C;ENST00000456173:exon22:c.1834-1G>C;ENST00000431212:exon23:c.1894-1G>C;ENST00000587881:exon13:c.1249-1G>C)	.	.	0.999990361384395	0.936
18	56040405	G	T	18	58373173	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2257-1G>T;NM_001243960:exon22:c.2065-1G>T;NM_015277:exon23:c.2197-1G>T;NM_001144964:exon24:c.1894-1G>T;NM_001144968:exon24:c.2233-1G>T;NM_001144965:exon24:c.1894-1G>T;NM_001144971:exon24:c.1834-1G>T;NM_001144969:exon23:c.2173-1G>T;NM_001144970:exon22:c.1834-1G>T;NM_001144966:exon23:c.1894-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2065-1G>T;ENST00000400345:exon24:c.2257-1G>T;ENST00000256832:exon24:c.1837-1G>T;ENST00000382850:exon23:c.2197-1G>T;ENST00000256830:exon21:c.1945-1G>T;ENST00000456986:exon24:c.1894-1G>T;ENST00000357895:exon24:c.2233-1G>T;ENST00000435432:exon24:c.1834-1G>T;ENST00000586263:exon23:c.2173-1G>T;ENST00000456173:exon22:c.1834-1G>T;ENST00000431212:exon23:c.1894-1G>T;ENST00000587881:exon13:c.1249-1G>T)	.	.	0.999990361384395	0.936
18	56040406	G	A	18	58373174	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.G2173A:p.D725N;NEDD4L:NM_001144964:exon24:c.G1894A:p.D632N;NEDD4L:NM_015277:exon23:c.G2197A:p.D733N;NEDD4L:NM_001144967:exon24:c.G2257A:p.D753N;NEDD4L:NM_001144971:exon24:c.G1834A:p.D612N;NEDD4L:NM_001144968:exon24:c.G2233A:p.D745N;NEDD4L:NM_001144970:exon22:c.G1834A:p.D612N;NEDD4L:NM_001144965:exon24:c.G1894A:p.D632N;NEDD4L:NM_001144966:exon23:c.G1894A:p.D632N;NEDD4L:NM_001243960:exon22:c.G2065A:p.D689N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.G1249A:p.D417N;ENSG00000049759:ENST00000435432:exon24:c.G1834A:p.D612N;ENSG00000049759:ENST00000382850:exon23:c.G2197A:p.D733N;ENSG00000049759:ENST00000456986:exon24:c.G1894A:p.D632N;ENSG00000049759:ENST00000256830:exon21:c.G1945A:p.D649N;ENSG00000049759:ENST00000456173:exon22:c.G1834A:p.D612N;ENSG00000049759:ENST00000357895:exon24:c.G2233A:p.D745N;ENSG00000049759:ENST00000256832:exon24:c.G1837A:p.D613N;ENSG00000049759:ENST00000431212:exon23:c.G1894A:p.D632N;ENSG00000049759:ENST00000356462:exon22:c.G2065A:p.D689N;ENSG00000049759:ENST00000400345:exon24:c.G2257A:p.D753N;ENSG00000049759:ENST00000586263:exon23:c.G2173A:p.D725N;	0.99928265751559	0.964
18	56040406	G	C	18	58373174	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.G2173C:p.D725H;NEDD4L:NM_001144964:exon24:c.G1894C:p.D632H;NEDD4L:NM_015277:exon23:c.G2197C:p.D733H;NEDD4L:NM_001144967:exon24:c.G2257C:p.D753H;NEDD4L:NM_001144971:exon24:c.G1834C:p.D612H;NEDD4L:NM_001144968:exon24:c.G2233C:p.D745H;NEDD4L:NM_001144970:exon22:c.G1834C:p.D612H;NEDD4L:NM_001144965:exon24:c.G1894C:p.D632H;NEDD4L:NM_001144966:exon23:c.G1894C:p.D632H;NEDD4L:NM_001243960:exon22:c.G2065C:p.D689H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.G1249C:p.D417H;ENSG00000049759:ENST00000435432:exon24:c.G1834C:p.D612H;ENSG00000049759:ENST00000382850:exon23:c.G2197C:p.D733H;ENSG00000049759:ENST00000456986:exon24:c.G1894C:p.D632H;ENSG00000049759:ENST00000256830:exon21:c.G1945C:p.D649H;ENSG00000049759:ENST00000456173:exon22:c.G1834C:p.D612H;ENSG00000049759:ENST00000357895:exon24:c.G2233C:p.D745H;ENSG00000049759:ENST00000256832:exon24:c.G1837C:p.D613H;ENSG00000049759:ENST00000431212:exon23:c.G1894C:p.D632H;ENSG00000049759:ENST00000356462:exon22:c.G2065C:p.D689H;ENSG00000049759:ENST00000400345:exon24:c.G2257C:p.D753H;ENSG00000049759:ENST00000586263:exon23:c.G2173C:p.D725H;	0.999890542196634	0.988
18	56040406	G	T	18	58373174	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.G2173T:p.D725Y;NEDD4L:NM_001144964:exon24:c.G1894T:p.D632Y;NEDD4L:NM_015277:exon23:c.G2197T:p.D733Y;NEDD4L:NM_001144967:exon24:c.G2257T:p.D753Y;NEDD4L:NM_001144971:exon24:c.G1834T:p.D612Y;NEDD4L:NM_001144968:exon24:c.G2233T:p.D745Y;NEDD4L:NM_001144970:exon22:c.G1834T:p.D612Y;NEDD4L:NM_001144965:exon24:c.G1894T:p.D632Y;NEDD4L:NM_001144966:exon23:c.G1894T:p.D632Y;NEDD4L:NM_001243960:exon22:c.G2065T:p.D689Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.G1249T:p.D417Y;ENSG00000049759:ENST00000435432:exon24:c.G1834T:p.D612Y;ENSG00000049759:ENST00000382850:exon23:c.G2197T:p.D733Y;ENSG00000049759:ENST00000456986:exon24:c.G1894T:p.D632Y;ENSG00000049759:ENST00000256830:exon21:c.G1945T:p.D649Y;ENSG00000049759:ENST00000456173:exon22:c.G1834T:p.D612Y;ENSG00000049759:ENST00000357895:exon24:c.G2233T:p.D745Y;ENSG00000049759:ENST00000256832:exon24:c.G1837T:p.D613Y;ENSG00000049759:ENST00000431212:exon23:c.G1894T:p.D632Y;ENSG00000049759:ENST00000356462:exon22:c.G2065T:p.D689Y;ENSG00000049759:ENST00000400345:exon24:c.G2257T:p.D753Y;ENSG00000049759:ENST00000586263:exon23:c.G2173T:p.D725Y;	0.999945476789171	0.988
18	56040407	A	C	18	58373175	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.A2174C:p.D725A;NEDD4L:NM_001144964:exon24:c.A1895C:p.D632A;NEDD4L:NM_015277:exon23:c.A2198C:p.D733A;NEDD4L:NM_001144967:exon24:c.A2258C:p.D753A;NEDD4L:NM_001144971:exon24:c.A1835C:p.D612A;NEDD4L:NM_001144968:exon24:c.A2234C:p.D745A;NEDD4L:NM_001144970:exon22:c.A1835C:p.D612A;NEDD4L:NM_001144965:exon24:c.A1895C:p.D632A;NEDD4L:NM_001144966:exon23:c.A1895C:p.D632A;NEDD4L:NM_001243960:exon22:c.A2066C:p.D689A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.A1250C:p.D417A;ENSG00000049759:ENST00000435432:exon24:c.A1835C:p.D612A;ENSG00000049759:ENST00000382850:exon23:c.A2198C:p.D733A;ENSG00000049759:ENST00000456986:exon24:c.A1895C:p.D632A;ENSG00000049759:ENST00000256830:exon21:c.A1946C:p.D649A;ENSG00000049759:ENST00000456173:exon22:c.A1835C:p.D612A;ENSG00000049759:ENST00000357895:exon24:c.A2234C:p.D745A;ENSG00000049759:ENST00000256832:exon24:c.A1838C:p.D613A;ENSG00000049759:ENST00000431212:exon23:c.A1895C:p.D632A;ENSG00000049759:ENST00000356462:exon22:c.A2066C:p.D689A;ENSG00000049759:ENST00000400345:exon24:c.A2258C:p.D753A;ENSG00000049759:ENST00000586263:exon23:c.A2174C:p.D725A;	0.914257415642639	0.856
18	56040407	A	G	18	58373175	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.A2174G:p.D725G;NEDD4L:NM_001144964:exon24:c.A1895G:p.D632G;NEDD4L:NM_015277:exon23:c.A2198G:p.D733G;NEDD4L:NM_001144967:exon24:c.A2258G:p.D753G;NEDD4L:NM_001144971:exon24:c.A1835G:p.D612G;NEDD4L:NM_001144968:exon24:c.A2234G:p.D745G;NEDD4L:NM_001144970:exon22:c.A1835G:p.D612G;NEDD4L:NM_001144965:exon24:c.A1895G:p.D632G;NEDD4L:NM_001144966:exon23:c.A1895G:p.D632G;NEDD4L:NM_001243960:exon22:c.A2066G:p.D689G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.A1250G:p.D417G;ENSG00000049759:ENST00000435432:exon24:c.A1835G:p.D612G;ENSG00000049759:ENST00000382850:exon23:c.A2198G:p.D733G;ENSG00000049759:ENST00000456986:exon24:c.A1895G:p.D632G;ENSG00000049759:ENST00000256830:exon21:c.A1946G:p.D649G;ENSG00000049759:ENST00000456173:exon22:c.A1835G:p.D612G;ENSG00000049759:ENST00000357895:exon24:c.A2234G:p.D745G;ENSG00000049759:ENST00000256832:exon24:c.A1838G:p.D613G;ENSG00000049759:ENST00000431212:exon23:c.A1895G:p.D632G;ENSG00000049759:ENST00000356462:exon22:c.A2066G:p.D689G;ENSG00000049759:ENST00000400345:exon24:c.A2258G:p.D753G;ENSG00000049759:ENST00000586263:exon23:c.A2174G:p.D725G;	0.900415698042989	0.602
18	56040407	A	T	18	58373175	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.A2174T:p.D725V;NEDD4L:NM_001144964:exon24:c.A1895T:p.D632V;NEDD4L:NM_015277:exon23:c.A2198T:p.D733V;NEDD4L:NM_001144967:exon24:c.A2258T:p.D753V;NEDD4L:NM_001144971:exon24:c.A1835T:p.D612V;NEDD4L:NM_001144968:exon24:c.A2234T:p.D745V;NEDD4L:NM_001144970:exon22:c.A1835T:p.D612V;NEDD4L:NM_001144965:exon24:c.A1895T:p.D632V;NEDD4L:NM_001144966:exon23:c.A1895T:p.D632V;NEDD4L:NM_001243960:exon22:c.A2066T:p.D689V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.A1250T:p.D417V;ENSG00000049759:ENST00000435432:exon24:c.A1835T:p.D612V;ENSG00000049759:ENST00000382850:exon23:c.A2198T:p.D733V;ENSG00000049759:ENST00000456986:exon24:c.A1895T:p.D632V;ENSG00000049759:ENST00000256830:exon21:c.A1946T:p.D649V;ENSG00000049759:ENST00000456173:exon22:c.A1835T:p.D612V;ENSG00000049759:ENST00000357895:exon24:c.A2234T:p.D745V;ENSG00000049759:ENST00000256832:exon24:c.A1838T:p.D613V;ENSG00000049759:ENST00000431212:exon23:c.A1895T:p.D632V;ENSG00000049759:ENST00000356462:exon22:c.A2066T:p.D689V;ENSG00000049759:ENST00000400345:exon24:c.A2258T:p.D753V;ENSG00000049759:ENST00000586263:exon23:c.A2174T:p.D725V;	0.901341029882093	0.78
18	56040499	C	A	18	58373267	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.C2266A:p.Q756K;NEDD4L:NM_001144964:exon24:c.C1987A:p.Q663K;NEDD4L:NM_015277:exon23:c.C2290A:p.Q764K;NEDD4L:NM_001144967:exon24:c.C2350A:p.Q784K;NEDD4L:NM_001144971:exon24:c.C1927A:p.Q643K;NEDD4L:NM_001144968:exon24:c.C2326A:p.Q776K;NEDD4L:NM_001144970:exon22:c.C1927A:p.Q643K;NEDD4L:NM_001144965:exon24:c.C1987A:p.Q663K;NEDD4L:NM_001144966:exon23:c.C1987A:p.Q663K;NEDD4L:NM_001243960:exon22:c.C2158A:p.Q720K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.C1342A:p.Q448K;ENSG00000049759:ENST00000435432:exon24:c.C1927A:p.Q643K;ENSG00000049759:ENST00000382850:exon23:c.C2290A:p.Q764K;ENSG00000049759:ENST00000456986:exon24:c.C1987A:p.Q663K;ENSG00000049759:ENST00000256830:exon21:c.C2038A:p.Q680K;ENSG00000049759:ENST00000456173:exon22:c.C1927A:p.Q643K;ENSG00000049759:ENST00000357895:exon24:c.C2326A:p.Q776K;ENSG00000049759:ENST00000256832:exon24:c.C1930A:p.Q644K;ENSG00000049759:ENST00000431212:exon23:c.C1987A:p.Q663K;ENSG00000049759:ENST00000356462:exon22:c.C2158A:p.Q720K;ENSG00000049759:ENST00000400345:exon24:c.C2350A:p.Q784K;ENSG00000049759:ENST00000586263:exon23:c.C2266A:p.Q756K;	0.966490242352495	0.802
18	56040499	C	G	18	58373267	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.C2266G:p.Q756E;NEDD4L:NM_001144964:exon24:c.C1987G:p.Q663E;NEDD4L:NM_015277:exon23:c.C2290G:p.Q764E;NEDD4L:NM_001144967:exon24:c.C2350G:p.Q784E;NEDD4L:NM_001144971:exon24:c.C1927G:p.Q643E;NEDD4L:NM_001144968:exon24:c.C2326G:p.Q776E;NEDD4L:NM_001144970:exon22:c.C1927G:p.Q643E;NEDD4L:NM_001144965:exon24:c.C1987G:p.Q663E;NEDD4L:NM_001144966:exon23:c.C1987G:p.Q663E;NEDD4L:NM_001243960:exon22:c.C2158G:p.Q720E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.C1342G:p.Q448E;ENSG00000049759:ENST00000435432:exon24:c.C1927G:p.Q643E;ENSG00000049759:ENST00000382850:exon23:c.C2290G:p.Q764E;ENSG00000049759:ENST00000456986:exon24:c.C1987G:p.Q663E;ENSG00000049759:ENST00000256830:exon21:c.C2038G:p.Q680E;ENSG00000049759:ENST00000456173:exon22:c.C1927G:p.Q643E;ENSG00000049759:ENST00000357895:exon24:c.C2326G:p.Q776E;ENSG00000049759:ENST00000256832:exon24:c.C1930G:p.Q644E;ENSG00000049759:ENST00000431212:exon23:c.C1987G:p.Q663E;ENSG00000049759:ENST00000356462:exon22:c.C2158G:p.Q720E;ENSG00000049759:ENST00000400345:exon24:c.C2350G:p.Q784E;ENSG00000049759:ENST00000586263:exon23:c.C2266G:p.Q756E;	0.145534967755166	0.298
18	56040499	C	T	18	58373267	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon23:c.C2266T:p.Q756X;NEDD4L:NM_001144964:exon24:c.C1987T:p.Q663X;NEDD4L:NM_015277:exon23:c.C2290T:p.Q764X;NEDD4L:NM_001144967:exon24:c.C2350T:p.Q784X;NEDD4L:NM_001144971:exon24:c.C1927T:p.Q643X;NEDD4L:NM_001144968:exon24:c.C2326T:p.Q776X;NEDD4L:NM_001144970:exon22:c.C1927T:p.Q643X;NEDD4L:NM_001144965:exon24:c.C1987T:p.Q663X;NEDD4L:NM_001144966:exon23:c.C1987T:p.Q663X;NEDD4L:NM_001243960:exon22:c.C2158T:p.Q720X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon13:c.C1342T:p.Q448X;ENSG00000049759:ENST00000435432:exon24:c.C1927T:p.Q643X;ENSG00000049759:ENST00000382850:exon23:c.C2290T:p.Q764X;ENSG00000049759:ENST00000456986:exon24:c.C1987T:p.Q663X;ENSG00000049759:ENST00000256830:exon21:c.C2038T:p.Q680X;ENSG00000049759:ENST00000456173:exon22:c.C1927T:p.Q643X;ENSG00000049759:ENST00000357895:exon24:c.C2326T:p.Q776X;ENSG00000049759:ENST00000256832:exon24:c.C1930T:p.Q644X;ENSG00000049759:ENST00000431212:exon23:c.C1987T:p.Q663X;ENSG00000049759:ENST00000356462:exon22:c.C2158T:p.Q720X;ENSG00000049759:ENST00000400345:exon24:c.C2350T:p.Q784X;ENSG00000049759:ENST00000586263:exon23:c.C2266T:p.Q756X;	0.999627825650085	0.942
18	56040500	A	C	18	58373268	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.A2267C:p.Q756P;NEDD4L:NM_001144964:exon24:c.A1988C:p.Q663P;NEDD4L:NM_015277:exon23:c.A2291C:p.Q764P;NEDD4L:NM_001144967:exon24:c.A2351C:p.Q784P;NEDD4L:NM_001144971:exon24:c.A1928C:p.Q643P;NEDD4L:NM_001144968:exon24:c.A2327C:p.Q776P;NEDD4L:NM_001144970:exon22:c.A1928C:p.Q643P;NEDD4L:NM_001144965:exon24:c.A1988C:p.Q663P;NEDD4L:NM_001144966:exon23:c.A1988C:p.Q663P;NEDD4L:NM_001243960:exon22:c.A2159C:p.Q720P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.A1343C:p.Q448P;ENSG00000049759:ENST00000435432:exon24:c.A1928C:p.Q643P;ENSG00000049759:ENST00000382850:exon23:c.A2291C:p.Q764P;ENSG00000049759:ENST00000456986:exon24:c.A1988C:p.Q663P;ENSG00000049759:ENST00000256830:exon21:c.A2039C:p.Q680P;ENSG00000049759:ENST00000456173:exon22:c.A1928C:p.Q643P;ENSG00000049759:ENST00000357895:exon24:c.A2327C:p.Q776P;ENSG00000049759:ENST00000256832:exon24:c.A1931C:p.Q644P;ENSG00000049759:ENST00000431212:exon23:c.A1988C:p.Q663P;ENSG00000049759:ENST00000356462:exon22:c.A2159C:p.Q720P;ENSG00000049759:ENST00000400345:exon24:c.A2351C:p.Q784P;ENSG00000049759:ENST00000586263:exon23:c.A2267C:p.Q756P;	0.999938922181301	0.988
18	56040500	A	G	18	58373268	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.A2267G:p.Q756R;NEDD4L:NM_001144964:exon24:c.A1988G:p.Q663R;NEDD4L:NM_015277:exon23:c.A2291G:p.Q764R;NEDD4L:NM_001144967:exon24:c.A2351G:p.Q784R;NEDD4L:NM_001144971:exon24:c.A1928G:p.Q643R;NEDD4L:NM_001144968:exon24:c.A2327G:p.Q776R;NEDD4L:NM_001144970:exon22:c.A1928G:p.Q643R;NEDD4L:NM_001144965:exon24:c.A1988G:p.Q663R;NEDD4L:NM_001144966:exon23:c.A1988G:p.Q663R;NEDD4L:NM_001243960:exon22:c.A2159G:p.Q720R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.A1343G:p.Q448R;ENSG00000049759:ENST00000435432:exon24:c.A1928G:p.Q643R;ENSG00000049759:ENST00000382850:exon23:c.A2291G:p.Q764R;ENSG00000049759:ENST00000456986:exon24:c.A1988G:p.Q663R;ENSG00000049759:ENST00000256830:exon21:c.A2039G:p.Q680R;ENSG00000049759:ENST00000456173:exon22:c.A1928G:p.Q643R;ENSG00000049759:ENST00000357895:exon24:c.A2327G:p.Q776R;ENSG00000049759:ENST00000256832:exon24:c.A1931G:p.Q644R;ENSG00000049759:ENST00000431212:exon23:c.A1988G:p.Q663R;ENSG00000049759:ENST00000356462:exon22:c.A2159G:p.Q720R;ENSG00000049759:ENST00000400345:exon24:c.A2351G:p.Q784R;ENSG00000049759:ENST00000586263:exon23:c.A2267G:p.Q756R;	0.999946086208028	0.996
18	56040500	A	T	18	58373268	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.A2267T:p.Q756L;NEDD4L:NM_001144964:exon24:c.A1988T:p.Q663L;NEDD4L:NM_015277:exon23:c.A2291T:p.Q764L;NEDD4L:NM_001144967:exon24:c.A2351T:p.Q784L;NEDD4L:NM_001144971:exon24:c.A1928T:p.Q643L;NEDD4L:NM_001144968:exon24:c.A2327T:p.Q776L;NEDD4L:NM_001144970:exon22:c.A1928T:p.Q643L;NEDD4L:NM_001144965:exon24:c.A1988T:p.Q663L;NEDD4L:NM_001144966:exon23:c.A1988T:p.Q663L;NEDD4L:NM_001243960:exon22:c.A2159T:p.Q720L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.A1343T:p.Q448L;ENSG00000049759:ENST00000435432:exon24:c.A1928T:p.Q643L;ENSG00000049759:ENST00000382850:exon23:c.A2291T:p.Q764L;ENSG00000049759:ENST00000456986:exon24:c.A1988T:p.Q663L;ENSG00000049759:ENST00000256830:exon21:c.A2039T:p.Q680L;ENSG00000049759:ENST00000456173:exon22:c.A1928T:p.Q643L;ENSG00000049759:ENST00000357895:exon24:c.A2327T:p.Q776L;ENSG00000049759:ENST00000256832:exon24:c.A1931T:p.Q644L;ENSG00000049759:ENST00000431212:exon23:c.A1988T:p.Q663L;ENSG00000049759:ENST00000356462:exon22:c.A2159T:p.Q720L;ENSG00000049759:ENST00000400345:exon24:c.A2351T:p.Q784L;ENSG00000049759:ENST00000586263:exon23:c.A2267T:p.Q756L;	0.999948424006875	0.986
18	56040501	G	A	18	58373269	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon23:c.G2268A:p.Q756Q;NEDD4L:NM_001144964:exon24:c.G1989A:p.Q663Q;NEDD4L:NM_015277:exon23:c.G2292A:p.Q764Q;NEDD4L:NM_001144967:exon24:c.G2352A:p.Q784Q;NEDD4L:NM_001144971:exon24:c.G1929A:p.Q643Q;NEDD4L:NM_001144968:exon24:c.G2328A:p.Q776Q;NEDD4L:NM_001144970:exon22:c.G1929A:p.Q643Q;NEDD4L:NM_001144965:exon24:c.G1989A:p.Q663Q;NEDD4L:NM_001144966:exon23:c.G1989A:p.Q663Q;NEDD4L:NM_001243960:exon22:c.G2160A:p.Q720Q;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.G1344A:p.Q448Q;ENSG00000049759:ENST00000435432:exon24:c.G1929A:p.Q643Q;ENSG00000049759:ENST00000382850:exon23:c.G2292A:p.Q764Q;ENSG00000049759:ENST00000456986:exon24:c.G1989A:p.Q663Q;ENSG00000049759:ENST00000256830:exon21:c.G2040A:p.Q680Q;ENSG00000049759:ENST00000456173:exon22:c.G1929A:p.Q643Q;ENSG00000049759:ENST00000357895:exon24:c.G2328A:p.Q776Q;ENSG00000049759:ENST00000256832:exon24:c.G1932A:p.Q644Q;ENSG00000049759:ENST00000431212:exon23:c.G1989A:p.Q663Q;ENSG00000049759:ENST00000356462:exon22:c.G2160A:p.Q720Q;ENSG00000049759:ENST00000400345:exon24:c.G2352A:p.Q784Q;ENSG00000049759:ENST00000586263:exon23:c.G2268A:p.Q756Q;	0.999970196044916	0.988
18	56040501	G	C	18	58373269	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.G2268C:p.Q756H;NEDD4L:NM_001144964:exon24:c.G1989C:p.Q663H;NEDD4L:NM_015277:exon23:c.G2292C:p.Q764H;NEDD4L:NM_001144967:exon24:c.G2352C:p.Q784H;NEDD4L:NM_001144971:exon24:c.G1929C:p.Q643H;NEDD4L:NM_001144968:exon24:c.G2328C:p.Q776H;NEDD4L:NM_001144970:exon22:c.G1929C:p.Q643H;NEDD4L:NM_001144965:exon24:c.G1989C:p.Q663H;NEDD4L:NM_001144966:exon23:c.G1989C:p.Q663H;NEDD4L:NM_001243960:exon22:c.G2160C:p.Q720H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.G1344C:p.Q448H;ENSG00000049759:ENST00000435432:exon24:c.G1929C:p.Q643H;ENSG00000049759:ENST00000382850:exon23:c.G2292C:p.Q764H;ENSG00000049759:ENST00000456986:exon24:c.G1989C:p.Q663H;ENSG00000049759:ENST00000256830:exon21:c.G2040C:p.Q680H;ENSG00000049759:ENST00000456173:exon22:c.G1929C:p.Q643H;ENSG00000049759:ENST00000357895:exon24:c.G2328C:p.Q776H;ENSG00000049759:ENST00000256832:exon24:c.G1932C:p.Q644H;ENSG00000049759:ENST00000431212:exon23:c.G1989C:p.Q663H;ENSG00000049759:ENST00000356462:exon22:c.G2160C:p.Q720H;ENSG00000049759:ENST00000400345:exon24:c.G2352C:p.Q784H;ENSG00000049759:ENST00000586263:exon23:c.G2268C:p.Q756H;	0.999997021997492	0.996
18	56040501	G	T	18	58373269	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon23:c.G2268T:p.Q756H;NEDD4L:NM_001144964:exon24:c.G1989T:p.Q663H;NEDD4L:NM_015277:exon23:c.G2292T:p.Q764H;NEDD4L:NM_001144967:exon24:c.G2352T:p.Q784H;NEDD4L:NM_001144971:exon24:c.G1929T:p.Q643H;NEDD4L:NM_001144968:exon24:c.G2328T:p.Q776H;NEDD4L:NM_001144970:exon22:c.G1929T:p.Q643H;NEDD4L:NM_001144965:exon24:c.G1989T:p.Q663H;NEDD4L:NM_001144966:exon23:c.G1989T:p.Q663H;NEDD4L:NM_001243960:exon22:c.G2160T:p.Q720H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon13:c.G1344T:p.Q448H;ENSG00000049759:ENST00000435432:exon24:c.G1929T:p.Q643H;ENSG00000049759:ENST00000382850:exon23:c.G2292T:p.Q764H;ENSG00000049759:ENST00000456986:exon24:c.G1989T:p.Q663H;ENSG00000049759:ENST00000256830:exon21:c.G2040T:p.Q680H;ENSG00000049759:ENST00000456173:exon22:c.G1929T:p.Q643H;ENSG00000049759:ENST00000357895:exon24:c.G2328T:p.Q776H;ENSG00000049759:ENST00000256832:exon24:c.G1932T:p.Q644H;ENSG00000049759:ENST00000431212:exon23:c.G1989T:p.Q663H;ENSG00000049759:ENST00000356462:exon22:c.G2160T:p.Q720H;ENSG00000049759:ENST00000400345:exon24:c.G2352T:p.Q784H;ENSG00000049759:ENST00000586263:exon23:c.G2268T:p.Q756H;	0.999985603782643	1.0
18	56040502	G	A	18	58373270	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2352+1G>A;NM_001243960:exon22:c.2160+1G>A;NM_015277:exon23:c.2292+1G>A;NM_001144964:exon24:c.1989+1G>A;NM_001144968:exon24:c.2328+1G>A;NM_001144965:exon24:c.1989+1G>A;NM_001144971:exon24:c.1929+1G>A;NM_001144969:exon23:c.2268+1G>A;NM_001144970:exon22:c.1929+1G>A;NM_001144966:exon23:c.1989+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2160+1G>A;ENST00000400345:exon24:c.2352+1G>A;ENST00000256832:exon24:c.1932+1G>A;ENST00000382850:exon23:c.2292+1G>A;ENST00000256830:exon21:c.2040+1G>A;ENST00000456986:exon24:c.1989+1G>A;ENST00000357895:exon24:c.2328+1G>A;ENST00000435432:exon24:c.1929+1G>A;ENST00000586263:exon23:c.2268+1G>A;ENST00000456173:exon22:c.1929+1G>A;ENST00000431212:exon23:c.1989+1G>A;ENST00000587881:exon13:c.1344+1G>A)	.	.	0.999990361384395	0.938
18	56040502	G	C	18	58373270	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2352+1G>C;NM_001243960:exon22:c.2160+1G>C;NM_015277:exon23:c.2292+1G>C;NM_001144964:exon24:c.1989+1G>C;NM_001144968:exon24:c.2328+1G>C;NM_001144965:exon24:c.1989+1G>C;NM_001144971:exon24:c.1929+1G>C;NM_001144969:exon23:c.2268+1G>C;NM_001144970:exon22:c.1929+1G>C;NM_001144966:exon23:c.1989+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2160+1G>C;ENST00000400345:exon24:c.2352+1G>C;ENST00000256832:exon24:c.1932+1G>C;ENST00000382850:exon23:c.2292+1G>C;ENST00000256830:exon21:c.2040+1G>C;ENST00000456986:exon24:c.1989+1G>C;ENST00000357895:exon24:c.2328+1G>C;ENST00000435432:exon24:c.1929+1G>C;ENST00000586263:exon23:c.2268+1G>C;ENST00000456173:exon22:c.1929+1G>C;ENST00000431212:exon23:c.1989+1G>C;ENST00000587881:exon13:c.1344+1G>C)	.	.	0.999990361384395	0.938
18	56040502	G	T	18	58373270	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2352+1G>T;NM_001243960:exon22:c.2160+1G>T;NM_015277:exon23:c.2292+1G>T;NM_001144964:exon24:c.1989+1G>T;NM_001144968:exon24:c.2328+1G>T;NM_001144965:exon24:c.1989+1G>T;NM_001144971:exon24:c.1929+1G>T;NM_001144969:exon23:c.2268+1G>T;NM_001144970:exon22:c.1929+1G>T;NM_001144966:exon23:c.1989+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2160+1G>T;ENST00000400345:exon24:c.2352+1G>T;ENST00000256832:exon24:c.1932+1G>T;ENST00000382850:exon23:c.2292+1G>T;ENST00000256830:exon21:c.2040+1G>T;ENST00000456986:exon24:c.1989+1G>T;ENST00000357895:exon24:c.2328+1G>T;ENST00000435432:exon24:c.1929+1G>T;ENST00000586263:exon23:c.2268+1G>T;ENST00000456173:exon22:c.1929+1G>T;ENST00000431212:exon23:c.1989+1G>T;ENST00000587881:exon13:c.1344+1G>T)	.	.	0.999990361384395	0.938
18	56040503	T	A	18	58373271	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2352+2T>A;NM_001243960:exon22:c.2160+2T>A;NM_015277:exon23:c.2292+2T>A;NM_001144964:exon24:c.1989+2T>A;NM_001144968:exon24:c.2328+2T>A;NM_001144965:exon24:c.1989+2T>A;NM_001144971:exon24:c.1929+2T>A;NM_001144969:exon23:c.2268+2T>A;NM_001144970:exon22:c.1929+2T>A;NM_001144966:exon23:c.1989+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2160+2T>A;ENST00000400345:exon24:c.2352+2T>A;ENST00000256832:exon24:c.1932+2T>A;ENST00000382850:exon23:c.2292+2T>A;ENST00000256830:exon21:c.2040+2T>A;ENST00000456986:exon24:c.1989+2T>A;ENST00000357895:exon24:c.2328+2T>A;ENST00000435432:exon24:c.1929+2T>A;ENST00000586263:exon23:c.2268+2T>A;ENST00000456173:exon22:c.1929+2T>A;ENST00000431212:exon23:c.1989+2T>A;ENST00000587881:exon13:c.1344+2T>A)	.	.	0.999988247793601	0.93
18	56040503	T	C	18	58373271	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2352+2T>C;NM_001243960:exon22:c.2160+2T>C;NM_015277:exon23:c.2292+2T>C;NM_001144964:exon24:c.1989+2T>C;NM_001144968:exon24:c.2328+2T>C;NM_001144965:exon24:c.1989+2T>C;NM_001144971:exon24:c.1929+2T>C;NM_001144969:exon23:c.2268+2T>C;NM_001144970:exon22:c.1929+2T>C;NM_001144966:exon23:c.1989+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2160+2T>C;ENST00000400345:exon24:c.2352+2T>C;ENST00000256832:exon24:c.1932+2T>C;ENST00000382850:exon23:c.2292+2T>C;ENST00000256830:exon21:c.2040+2T>C;ENST00000456986:exon24:c.1989+2T>C;ENST00000357895:exon24:c.2328+2T>C;ENST00000435432:exon24:c.1929+2T>C;ENST00000586263:exon23:c.2268+2T>C;ENST00000456173:exon22:c.1929+2T>C;ENST00000431212:exon23:c.1989+2T>C;ENST00000587881:exon13:c.1344+2T>C)	.	.	0.996046924575706	0.718
18	56040503	T	G	18	58373271	y	y	splicing	NEDD4L(NM_001144967:exon24:c.2352+2T>G;NM_001243960:exon22:c.2160+2T>G;NM_015277:exon23:c.2292+2T>G;NM_001144964:exon24:c.1989+2T>G;NM_001144968:exon24:c.2328+2T>G;NM_001144965:exon24:c.1989+2T>G;NM_001144971:exon24:c.1929+2T>G;NM_001144969:exon23:c.2268+2T>G;NM_001144970:exon22:c.1929+2T>G;NM_001144966:exon23:c.1989+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon22:c.2160+2T>G;ENST00000400345:exon24:c.2352+2T>G;ENST00000256832:exon24:c.1932+2T>G;ENST00000382850:exon23:c.2292+2T>G;ENST00000256830:exon21:c.2040+2T>G;ENST00000456986:exon24:c.1989+2T>G;ENST00000357895:exon24:c.2328+2T>G;ENST00000435432:exon24:c.1929+2T>G;ENST00000586263:exon23:c.2268+2T>G;ENST00000456173:exon22:c.1929+2T>G;ENST00000431212:exon23:c.1989+2T>G;ENST00000587881:exon13:c.1344+2T>G)	.	.	0.999988247793601	0.93
18	56040504	A	C	18	58373272	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999467248576525	0.768
18	56040504	A	G	18	58373272	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.215141196407419	0.47
18	56040504	A	T	18	58373272	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.989012031074937	0.656
18	56040505	C	A	18	58373273	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.90170855087296E-5	0.052
18	56040505	C	G	18	58373273	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.0837768416964E-4	0.068
18	56040505	C	T	18	58373273	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.75328944440516E-4	0.024
18	56040506	A	C	18	58373274	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00168357896716896	0.174
18	56040506	A	G	18	58373274	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.98874256136086E-4	0.062
18	56040506	A	T	18	58373274	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.65513186120776E-4	0.204
18	56040507	T	A	18	58373275	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.559465249274997	0.478
18	56040507	T	C	18	58373275	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.603173692921374	0.448
18	56040507	T	G	18	58373275	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.750627204026454	0.448
18	56040508	G	A	18	58373276	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.09633597328598E-4	0.002
18	56040508	G	C	18	58373276	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.195758735279E-4	0.0
18	56040508	G	T	18	58373276	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.36567682305367E-5	0.0
18	56040509	T	A	18	58373277	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.80939006445898E-5	0.0
18	56040509	T	C	18	58373277	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.49324761033339E-5	0.002
18	56040509	T	G	18	58373277	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.99225673566173E-5	0.0
18	56050466	T	A	18	58383234	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.635486293073556	0.422
18	56050466	T	C	18	58383234	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.61162688743715E-5	0.126
18	56050466	T	G	18	58383234	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.695584848285506	0.388
18	56050467	T	A	18	58383235	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999985889219228	0.982
18	56050467	T	C	18	58383235	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.957571561676573	0.6
18	56050467	T	G	18	58383235	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999659134016084	0.942
18	56050468	G	A	18	58383236	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.07402846895173E-5	0.054
18	56050468	G	C	18	58383236	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.59117336093882E-4	0.074
18	56050468	G	T	18	58383236	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.24840316756327E-4	0.128
18	56050469	T	A	18	58383237	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.643686989909565	0.5
18	56050469	T	C	18	58383237	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.10540739055418E-4	0.118
18	56050469	T	G	18	58383237	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.483023613927542	0.56
18	56050470	A	C	18	58383238	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.45681372632911E-4	0.072
18	56050470	A	G	18	58383238	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.76088983070363E-4	0.032
18	56050470	A	T	18	58383238	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.16527069993678E-4	0.044
18	56050471	A	C	18	58383239	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.58431186759253E-4	0.03
18	56050471	A	G	18	58383239	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999903201898407	0.982
18	56050471	A	T	18	58383239	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.58431186759253E-4	0.062
18	56050472	T	A	18	58383240	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.974690667113967	0.61
18	56050472	T	C	18	58383240	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0101389142364474	0.154
18	56050472	T	G	18	58383240	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999973930218935	0.952
18	56050473	T	A	18	58383241	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.512973096559459	0.618
18	56050473	T	C	18	58383241	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00196283850355085	0.042
18	56050473	T	G	18	58383241	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.572125461845865	0.648
18	56050474	A	C	18	58383242	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.92669920730338E-5	0.058
18	56050474	A	G	18	58383242	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.22135211679402E-4	0.108
18	56050474	A	T	18	58383242	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.69809057939032E-5	0.024
18	56050475	C	A	18	58383243	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.993977020131236	0.87
18	56050475	C	G	18	58383243	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999979645254088	0.988
18	56050475	C	T	18	58383243	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00925361056247073	0.266
18	56050476	A	C	18	58383244	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2353-2A>C;NM_001243960:exon23:c.2161-2A>C;NM_015277:exon24:c.2293-2A>C;NM_001144964:exon25:c.1990-2A>C;NM_001144968:exon25:c.2329-2A>C;NM_001144965:exon25:c.1990-2A>C;NM_001144971:exon25:c.1930-2A>C;NM_001144969:exon24:c.2269-2A>C;NM_001144970:exon23:c.1930-2A>C;NM_001144966:exon24:c.1990-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2161-2A>C;ENST00000400345:exon25:c.2353-2A>C;ENST00000256832:exon25:c.1933-2A>C;ENST00000382850:exon24:c.2293-2A>C;ENST00000256830:exon22:c.2041-2A>C;ENST00000456986:exon25:c.1990-2A>C;ENST00000357895:exon25:c.2329-2A>C;ENST00000435432:exon25:c.1930-2A>C;ENST00000586263:exon24:c.2269-2A>C;ENST00000456173:exon23:c.1930-2A>C;ENST00000431212:exon24:c.1990-2A>C;ENST00000587881:exon14:c.1345-2A>C)	.	.	0.999986741007567	0.946
18	56050476	A	G	18	58383244	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2353-2A>G;NM_001243960:exon23:c.2161-2A>G;NM_015277:exon24:c.2293-2A>G;NM_001144964:exon25:c.1990-2A>G;NM_001144968:exon25:c.2329-2A>G;NM_001144965:exon25:c.1990-2A>G;NM_001144971:exon25:c.1930-2A>G;NM_001144969:exon24:c.2269-2A>G;NM_001144970:exon23:c.1930-2A>G;NM_001144966:exon24:c.1990-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2161-2A>G;ENST00000400345:exon25:c.2353-2A>G;ENST00000256832:exon25:c.1933-2A>G;ENST00000382850:exon24:c.2293-2A>G;ENST00000256830:exon22:c.2041-2A>G;ENST00000456986:exon25:c.1990-2A>G;ENST00000357895:exon25:c.2329-2A>G;ENST00000435432:exon25:c.1930-2A>G;ENST00000586263:exon24:c.2269-2A>G;ENST00000456173:exon23:c.1930-2A>G;ENST00000431212:exon24:c.1990-2A>G;ENST00000587881:exon14:c.1345-2A>G)	.	.	0.999986741007567	0.946
18	56050476	A	T	18	58383244	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2353-2A>T;NM_001243960:exon23:c.2161-2A>T;NM_015277:exon24:c.2293-2A>T;NM_001144964:exon25:c.1990-2A>T;NM_001144968:exon25:c.2329-2A>T;NM_001144965:exon25:c.1990-2A>T;NM_001144971:exon25:c.1930-2A>T;NM_001144969:exon24:c.2269-2A>T;NM_001144970:exon23:c.1930-2A>T;NM_001144966:exon24:c.1990-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2161-2A>T;ENST00000400345:exon25:c.2353-2A>T;ENST00000256832:exon25:c.1933-2A>T;ENST00000382850:exon24:c.2293-2A>T;ENST00000256830:exon22:c.2041-2A>T;ENST00000456986:exon25:c.1990-2A>T;ENST00000357895:exon25:c.2329-2A>T;ENST00000435432:exon25:c.1930-2A>T;ENST00000586263:exon24:c.2269-2A>T;ENST00000456173:exon23:c.1930-2A>T;ENST00000431212:exon24:c.1990-2A>T;ENST00000587881:exon14:c.1345-2A>T)	.	.	0.999986741007567	0.946
18	56050477	G	A	18	58383245	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2353-1G>A;NM_001243960:exon23:c.2161-1G>A;NM_015277:exon24:c.2293-1G>A;NM_001144964:exon25:c.1990-1G>A;NM_001144968:exon25:c.2329-1G>A;NM_001144965:exon25:c.1990-1G>A;NM_001144971:exon25:c.1930-1G>A;NM_001144969:exon24:c.2269-1G>A;NM_001144970:exon23:c.1930-1G>A;NM_001144966:exon24:c.1990-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2161-1G>A;ENST00000400345:exon25:c.2353-1G>A;ENST00000256832:exon25:c.1933-1G>A;ENST00000382850:exon24:c.2293-1G>A;ENST00000256830:exon22:c.2041-1G>A;ENST00000456986:exon25:c.1990-1G>A;ENST00000357895:exon25:c.2329-1G>A;ENST00000435432:exon25:c.1930-1G>A;ENST00000586263:exon24:c.2269-1G>A;ENST00000456173:exon23:c.1930-1G>A;ENST00000431212:exon24:c.1990-1G>A;ENST00000587881:exon14:c.1345-1G>A)	.	.	0.999989125585301	0.944
18	56050477	G	C	18	58383245	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2353-1G>C;NM_001243960:exon23:c.2161-1G>C;NM_015277:exon24:c.2293-1G>C;NM_001144964:exon25:c.1990-1G>C;NM_001144968:exon25:c.2329-1G>C;NM_001144965:exon25:c.1990-1G>C;NM_001144971:exon25:c.1930-1G>C;NM_001144969:exon24:c.2269-1G>C;NM_001144970:exon23:c.1930-1G>C;NM_001144966:exon24:c.1990-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2161-1G>C;ENST00000400345:exon25:c.2353-1G>C;ENST00000256832:exon25:c.1933-1G>C;ENST00000382850:exon24:c.2293-1G>C;ENST00000256830:exon22:c.2041-1G>C;ENST00000456986:exon25:c.1990-1G>C;ENST00000357895:exon25:c.2329-1G>C;ENST00000435432:exon25:c.1930-1G>C;ENST00000586263:exon24:c.2269-1G>C;ENST00000456173:exon23:c.1930-1G>C;ENST00000431212:exon24:c.1990-1G>C;ENST00000587881:exon14:c.1345-1G>C)	.	.	0.999989125585301	0.944
18	56050477	G	T	18	58383245	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2353-1G>T;NM_001243960:exon23:c.2161-1G>T;NM_015277:exon24:c.2293-1G>T;NM_001144964:exon25:c.1990-1G>T;NM_001144968:exon25:c.2329-1G>T;NM_001144965:exon25:c.1990-1G>T;NM_001144971:exon25:c.1930-1G>T;NM_001144969:exon24:c.2269-1G>T;NM_001144970:exon23:c.1930-1G>T;NM_001144966:exon24:c.1990-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2161-1G>T;ENST00000400345:exon25:c.2353-1G>T;ENST00000256832:exon25:c.1933-1G>T;ENST00000382850:exon24:c.2293-1G>T;ENST00000256830:exon22:c.2041-1G>T;ENST00000456986:exon25:c.1990-1G>T;ENST00000357895:exon25:c.2329-1G>T;ENST00000435432:exon25:c.1930-1G>T;ENST00000586263:exon24:c.2269-1G>T;ENST00000456173:exon23:c.1930-1G>T;ENST00000431212:exon24:c.1990-1G>T;ENST00000587881:exon14:c.1345-1G>T)	.	.	0.999989125585301	0.944
18	56050478	A	C	18	58383246	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.A2269C:p.T757P;NEDD4L:NM_001144964:exon25:c.A1990C:p.T664P;NEDD4L:NM_015277:exon24:c.A2293C:p.T765P;NEDD4L:NM_001144967:exon25:c.A2353C:p.T785P;NEDD4L:NM_001144971:exon25:c.A1930C:p.T644P;NEDD4L:NM_001144968:exon25:c.A2329C:p.T777P;NEDD4L:NM_001144970:exon23:c.A1930C:p.T644P;NEDD4L:NM_001144965:exon25:c.A1990C:p.T664P;NEDD4L:NM_001144966:exon24:c.A1990C:p.T664P;NEDD4L:NM_001243960:exon23:c.A2161C:p.T721P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.A1345C:p.T449P;ENSG00000049759:ENST00000435432:exon25:c.A1930C:p.T644P;ENSG00000049759:ENST00000382850:exon24:c.A2293C:p.T765P;ENSG00000049759:ENST00000456986:exon25:c.A1990C:p.T664P;ENSG00000049759:ENST00000256830:exon22:c.A2041C:p.T681P;ENSG00000049759:ENST00000456173:exon23:c.A1930C:p.T644P;ENSG00000049759:ENST00000357895:exon25:c.A2329C:p.T777P;ENSG00000049759:ENST00000256832:exon25:c.A1933C:p.T645P;ENSG00000049759:ENST00000431212:exon24:c.A1990C:p.T664P;ENSG00000049759:ENST00000356462:exon23:c.A2161C:p.T721P;ENSG00000049759:ENST00000400345:exon25:c.A2353C:p.T785P;ENSG00000049759:ENST00000586263:exon24:c.A2269C:p.T757P;	0.939115859571607	0.588
18	56050478	A	G	18	58383246	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.A2269G:p.T757A;NEDD4L:NM_001144964:exon25:c.A1990G:p.T664A;NEDD4L:NM_015277:exon24:c.A2293G:p.T765A;NEDD4L:NM_001144967:exon25:c.A2353G:p.T785A;NEDD4L:NM_001144971:exon25:c.A1930G:p.T644A;NEDD4L:NM_001144968:exon25:c.A2329G:p.T777A;NEDD4L:NM_001144970:exon23:c.A1930G:p.T644A;NEDD4L:NM_001144965:exon25:c.A1990G:p.T664A;NEDD4L:NM_001144966:exon24:c.A1990G:p.T664A;NEDD4L:NM_001243960:exon23:c.A2161G:p.T721A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.A1345G:p.T449A;ENSG00000049759:ENST00000435432:exon25:c.A1930G:p.T644A;ENSG00000049759:ENST00000382850:exon24:c.A2293G:p.T765A;ENSG00000049759:ENST00000456986:exon25:c.A1990G:p.T664A;ENSG00000049759:ENST00000256830:exon22:c.A2041G:p.T681A;ENSG00000049759:ENST00000456173:exon23:c.A1930G:p.T644A;ENSG00000049759:ENST00000357895:exon25:c.A2329G:p.T777A;ENSG00000049759:ENST00000256832:exon25:c.A1933G:p.T645A;ENSG00000049759:ENST00000431212:exon24:c.A1990G:p.T664A;ENSG00000049759:ENST00000356462:exon23:c.A2161G:p.T721A;ENSG00000049759:ENST00000400345:exon25:c.A2353G:p.T785A;ENSG00000049759:ENST00000586263:exon24:c.A2269G:p.T757A;	0.745208885623731	0.628
18	56050478	A	T	18	58383246	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.A2269T:p.T757S;NEDD4L:NM_001144964:exon25:c.A1990T:p.T664S;NEDD4L:NM_015277:exon24:c.A2293T:p.T765S;NEDD4L:NM_001144967:exon25:c.A2353T:p.T785S;NEDD4L:NM_001144971:exon25:c.A1930T:p.T644S;NEDD4L:NM_001144968:exon25:c.A2329T:p.T777S;NEDD4L:NM_001144970:exon23:c.A1930T:p.T644S;NEDD4L:NM_001144965:exon25:c.A1990T:p.T664S;NEDD4L:NM_001144966:exon24:c.A1990T:p.T664S;NEDD4L:NM_001243960:exon23:c.A2161T:p.T721S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.A1345T:p.T449S;ENSG00000049759:ENST00000435432:exon25:c.A1930T:p.T644S;ENSG00000049759:ENST00000382850:exon24:c.A2293T:p.T765S;ENSG00000049759:ENST00000456986:exon25:c.A1990T:p.T664S;ENSG00000049759:ENST00000256830:exon22:c.A2041T:p.T681S;ENSG00000049759:ENST00000456173:exon23:c.A1930T:p.T644S;ENSG00000049759:ENST00000357895:exon25:c.A2329T:p.T777S;ENSG00000049759:ENST00000256832:exon25:c.A1933T:p.T645S;ENSG00000049759:ENST00000431212:exon24:c.A1990T:p.T664S;ENSG00000049759:ENST00000356462:exon23:c.A2161T:p.T721S;ENSG00000049759:ENST00000400345:exon25:c.A2353T:p.T785S;ENSG00000049759:ENST00000586263:exon24:c.A2269T:p.T757S;	0.95859188832333	0.6
18	56050479	C	A	18	58383247	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.C2270A:p.T757K;NEDD4L:NM_001144964:exon25:c.C1991A:p.T664K;NEDD4L:NM_015277:exon24:c.C2294A:p.T765K;NEDD4L:NM_001144967:exon25:c.C2354A:p.T785K;NEDD4L:NM_001144971:exon25:c.C1931A:p.T644K;NEDD4L:NM_001144968:exon25:c.C2330A:p.T777K;NEDD4L:NM_001144970:exon23:c.C1931A:p.T644K;NEDD4L:NM_001144965:exon25:c.C1991A:p.T664K;NEDD4L:NM_001144966:exon24:c.C1991A:p.T664K;NEDD4L:NM_001243960:exon23:c.C2162A:p.T721K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.C1346A:p.T449K;ENSG00000049759:ENST00000435432:exon25:c.C1931A:p.T644K;ENSG00000049759:ENST00000382850:exon24:c.C2294A:p.T765K;ENSG00000049759:ENST00000456986:exon25:c.C1991A:p.T664K;ENSG00000049759:ENST00000256830:exon22:c.C2042A:p.T681K;ENSG00000049759:ENST00000456173:exon23:c.C1931A:p.T644K;ENSG00000049759:ENST00000357895:exon25:c.C2330A:p.T777K;ENSG00000049759:ENST00000256832:exon25:c.C1934A:p.T645K;ENSG00000049759:ENST00000431212:exon24:c.C1991A:p.T664K;ENSG00000049759:ENST00000356462:exon23:c.C2162A:p.T721K;ENSG00000049759:ENST00000400345:exon25:c.C2354A:p.T785K;ENSG00000049759:ENST00000586263:exon24:c.C2270A:p.T757K;	0.990304515959592	0.864
18	56050479	C	G	18	58383247	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.C2270G:p.T757R;NEDD4L:NM_001144964:exon25:c.C1991G:p.T664R;NEDD4L:NM_015277:exon24:c.C2294G:p.T765R;NEDD4L:NM_001144967:exon25:c.C2354G:p.T785R;NEDD4L:NM_001144971:exon25:c.C1931G:p.T644R;NEDD4L:NM_001144968:exon25:c.C2330G:p.T777R;NEDD4L:NM_001144970:exon23:c.C1931G:p.T644R;NEDD4L:NM_001144965:exon25:c.C1991G:p.T664R;NEDD4L:NM_001144966:exon24:c.C1991G:p.T664R;NEDD4L:NM_001243960:exon23:c.C2162G:p.T721R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.C1346G:p.T449R;ENSG00000049759:ENST00000435432:exon25:c.C1931G:p.T644R;ENSG00000049759:ENST00000382850:exon24:c.C2294G:p.T765R;ENSG00000049759:ENST00000456986:exon25:c.C1991G:p.T664R;ENSG00000049759:ENST00000256830:exon22:c.C2042G:p.T681R;ENSG00000049759:ENST00000456173:exon23:c.C1931G:p.T644R;ENSG00000049759:ENST00000357895:exon25:c.C2330G:p.T777R;ENSG00000049759:ENST00000256832:exon25:c.C1934G:p.T645R;ENSG00000049759:ENST00000431212:exon24:c.C1991G:p.T664R;ENSG00000049759:ENST00000356462:exon23:c.C2162G:p.T721R;ENSG00000049759:ENST00000400345:exon25:c.C2354G:p.T785R;ENSG00000049759:ENST00000586263:exon24:c.C2270G:p.T757R;	0.983484261201876	0.63
18	56050479	C	T	18	58383247	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.C2270T:p.T757I;NEDD4L:NM_001144964:exon25:c.C1991T:p.T664I;NEDD4L:NM_015277:exon24:c.C2294T:p.T765I;NEDD4L:NM_001144967:exon25:c.C2354T:p.T785I;NEDD4L:NM_001144971:exon25:c.C1931T:p.T644I;NEDD4L:NM_001144968:exon25:c.C2330T:p.T777I;NEDD4L:NM_001144970:exon23:c.C1931T:p.T644I;NEDD4L:NM_001144965:exon25:c.C1991T:p.T664I;NEDD4L:NM_001144966:exon24:c.C1991T:p.T664I;NEDD4L:NM_001243960:exon23:c.C2162T:p.T721I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.C1346T:p.T449I;ENSG00000049759:ENST00000435432:exon25:c.C1931T:p.T644I;ENSG00000049759:ENST00000382850:exon24:c.C2294T:p.T765I;ENSG00000049759:ENST00000456986:exon25:c.C1991T:p.T664I;ENSG00000049759:ENST00000256830:exon22:c.C2042T:p.T681I;ENSG00000049759:ENST00000456173:exon23:c.C1931T:p.T644I;ENSG00000049759:ENST00000357895:exon25:c.C2330T:p.T777I;ENSG00000049759:ENST00000256832:exon25:c.C1934T:p.T645I;ENSG00000049759:ENST00000431212:exon24:c.C1991T:p.T664I;ENSG00000049759:ENST00000356462:exon23:c.C2162T:p.T721I;ENSG00000049759:ENST00000400345:exon25:c.C2354T:p.T785I;ENSG00000049759:ENST00000586263:exon24:c.C2270T:p.T757I;	0.980460766185683	0.746
18	56050549	C	A	18	58383317	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon24:c.C2340A:p.I780I;NEDD4L:NM_001144964:exon25:c.C2061A:p.I687I;NEDD4L:NM_015277:exon24:c.C2364A:p.I788I;NEDD4L:NM_001144967:exon25:c.C2424A:p.I808I;NEDD4L:NM_001144971:exon25:c.C2001A:p.I667I;NEDD4L:NM_001144968:exon25:c.C2400A:p.I800I;NEDD4L:NM_001144970:exon23:c.C2001A:p.I667I;NEDD4L:NM_001144965:exon25:c.C2061A:p.I687I;NEDD4L:NM_001144966:exon24:c.C2061A:p.I687I;NEDD4L:NM_001243960:exon23:c.C2232A:p.I744I;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.C1416A:p.I472I;ENSG00000049759:ENST00000435432:exon25:c.C2001A:p.I667I;ENSG00000049759:ENST00000382850:exon24:c.C2364A:p.I788I;ENSG00000049759:ENST00000456986:exon25:c.C2061A:p.I687I;ENSG00000049759:ENST00000256830:exon22:c.C2112A:p.I704I;ENSG00000049759:ENST00000456173:exon23:c.C2001A:p.I667I;ENSG00000049759:ENST00000357895:exon25:c.C2400A:p.I800I;ENSG00000049759:ENST00000256832:exon25:c.C2004A:p.I668I;ENSG00000049759:ENST00000431212:exon24:c.C2061A:p.I687I;ENSG00000049759:ENST00000356462:exon23:c.C2232A:p.I744I;ENSG00000049759:ENST00000400345:exon25:c.C2424A:p.I808I;ENSG00000049759:ENST00000586263:exon24:c.C2340A:p.I780I;	6.72558659176248E-5	0.012
18	56050549	C	G	18	58383317	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.C2340G:p.I780M;NEDD4L:NM_001144964:exon25:c.C2061G:p.I687M;NEDD4L:NM_015277:exon24:c.C2364G:p.I788M;NEDD4L:NM_001144967:exon25:c.C2424G:p.I808M;NEDD4L:NM_001144971:exon25:c.C2001G:p.I667M;NEDD4L:NM_001144968:exon25:c.C2400G:p.I800M;NEDD4L:NM_001144970:exon23:c.C2001G:p.I667M;NEDD4L:NM_001144965:exon25:c.C2061G:p.I687M;NEDD4L:NM_001144966:exon24:c.C2061G:p.I687M;NEDD4L:NM_001243960:exon23:c.C2232G:p.I744M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.C1416G:p.I472M;ENSG00000049759:ENST00000435432:exon25:c.C2001G:p.I667M;ENSG00000049759:ENST00000382850:exon24:c.C2364G:p.I788M;ENSG00000049759:ENST00000456986:exon25:c.C2061G:p.I687M;ENSG00000049759:ENST00000256830:exon22:c.C2112G:p.I704M;ENSG00000049759:ENST00000456173:exon23:c.C2001G:p.I667M;ENSG00000049759:ENST00000357895:exon25:c.C2400G:p.I800M;ENSG00000049759:ENST00000256832:exon25:c.C2004G:p.I668M;ENSG00000049759:ENST00000431212:exon24:c.C2061G:p.I687M;ENSG00000049759:ENST00000356462:exon23:c.C2232G:p.I744M;ENSG00000049759:ENST00000400345:exon25:c.C2424G:p.I808M;ENSG00000049759:ENST00000586263:exon24:c.C2340G:p.I780M;	3.47392449335393E-4	0.276
18	56050549	C	T	18	58383317	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon24:c.C2340T:p.I780I;NEDD4L:NM_001144964:exon25:c.C2061T:p.I687I;NEDD4L:NM_015277:exon24:c.C2364T:p.I788I;NEDD4L:NM_001144967:exon25:c.C2424T:p.I808I;NEDD4L:NM_001144971:exon25:c.C2001T:p.I667I;NEDD4L:NM_001144968:exon25:c.C2400T:p.I800I;NEDD4L:NM_001144970:exon23:c.C2001T:p.I667I;NEDD4L:NM_001144965:exon25:c.C2061T:p.I687I;NEDD4L:NM_001144966:exon24:c.C2061T:p.I687I;NEDD4L:NM_001243960:exon23:c.C2232T:p.I744I;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.C1416T:p.I472I;ENSG00000049759:ENST00000435432:exon25:c.C2001T:p.I667I;ENSG00000049759:ENST00000382850:exon24:c.C2364T:p.I788I;ENSG00000049759:ENST00000456986:exon25:c.C2061T:p.I687I;ENSG00000049759:ENST00000256830:exon22:c.C2112T:p.I704I;ENSG00000049759:ENST00000456173:exon23:c.C2001T:p.I667I;ENSG00000049759:ENST00000357895:exon25:c.C2400T:p.I800I;ENSG00000049759:ENST00000256832:exon25:c.C2004T:p.I668I;ENSG00000049759:ENST00000431212:exon24:c.C2061T:p.I687I;ENSG00000049759:ENST00000356462:exon23:c.C2232T:p.I744I;ENSG00000049759:ENST00000400345:exon25:c.C2424T:p.I808I;ENSG00000049759:ENST00000586263:exon24:c.C2340T:p.I780I;	0.0233508502732435	0.248
18	56050550	G	A	18	58383318	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.G2341A:p.D781N;NEDD4L:NM_001144964:exon25:c.G2062A:p.D688N;NEDD4L:NM_015277:exon24:c.G2365A:p.D789N;NEDD4L:NM_001144967:exon25:c.G2425A:p.D809N;NEDD4L:NM_001144971:exon25:c.G2002A:p.D668N;NEDD4L:NM_001144968:exon25:c.G2401A:p.D801N;NEDD4L:NM_001144970:exon23:c.G2002A:p.D668N;NEDD4L:NM_001144965:exon25:c.G2062A:p.D688N;NEDD4L:NM_001144966:exon24:c.G2062A:p.D688N;NEDD4L:NM_001243960:exon23:c.G2233A:p.D745N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.G1417A:p.D473N;ENSG00000049759:ENST00000435432:exon25:c.G2002A:p.D668N;ENSG00000049759:ENST00000382850:exon24:c.G2365A:p.D789N;ENSG00000049759:ENST00000456986:exon25:c.G2062A:p.D688N;ENSG00000049759:ENST00000256830:exon22:c.G2113A:p.D705N;ENSG00000049759:ENST00000456173:exon23:c.G2002A:p.D668N;ENSG00000049759:ENST00000357895:exon25:c.G2401A:p.D801N;ENSG00000049759:ENST00000256832:exon25:c.G2005A:p.D669N;ENSG00000049759:ENST00000431212:exon24:c.G2062A:p.D688N;ENSG00000049759:ENST00000356462:exon23:c.G2233A:p.D745N;ENSG00000049759:ENST00000400345:exon25:c.G2425A:p.D809N;ENSG00000049759:ENST00000586263:exon24:c.G2341A:p.D781N;	0.953602078026321	0.572
18	56050550	G	C	18	58383318	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.G2341C:p.D781H;NEDD4L:NM_001144964:exon25:c.G2062C:p.D688H;NEDD4L:NM_015277:exon24:c.G2365C:p.D789H;NEDD4L:NM_001144967:exon25:c.G2425C:p.D809H;NEDD4L:NM_001144971:exon25:c.G2002C:p.D668H;NEDD4L:NM_001144968:exon25:c.G2401C:p.D801H;NEDD4L:NM_001144970:exon23:c.G2002C:p.D668H;NEDD4L:NM_001144965:exon25:c.G2062C:p.D688H;NEDD4L:NM_001144966:exon24:c.G2062C:p.D688H;NEDD4L:NM_001243960:exon23:c.G2233C:p.D745H;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.G1417C:p.D473H;ENSG00000049759:ENST00000435432:exon25:c.G2002C:p.D668H;ENSG00000049759:ENST00000382850:exon24:c.G2365C:p.D789H;ENSG00000049759:ENST00000456986:exon25:c.G2062C:p.D688H;ENSG00000049759:ENST00000256830:exon22:c.G2113C:p.D705H;ENSG00000049759:ENST00000456173:exon23:c.G2002C:p.D668H;ENSG00000049759:ENST00000357895:exon25:c.G2401C:p.D801H;ENSG00000049759:ENST00000256832:exon25:c.G2005C:p.D669H;ENSG00000049759:ENST00000431212:exon24:c.G2062C:p.D688H;ENSG00000049759:ENST00000356462:exon23:c.G2233C:p.D745H;ENSG00000049759:ENST00000400345:exon25:c.G2425C:p.D809H;ENSG00000049759:ENST00000586263:exon24:c.G2341C:p.D781H;	0.964433561535236	0.626
18	56050550	G	T	18	58383318	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.G2341T:p.D781Y;NEDD4L:NM_001144964:exon25:c.G2062T:p.D688Y;NEDD4L:NM_015277:exon24:c.G2365T:p.D789Y;NEDD4L:NM_001144967:exon25:c.G2425T:p.D809Y;NEDD4L:NM_001144971:exon25:c.G2002T:p.D668Y;NEDD4L:NM_001144968:exon25:c.G2401T:p.D801Y;NEDD4L:NM_001144970:exon23:c.G2002T:p.D668Y;NEDD4L:NM_001144965:exon25:c.G2062T:p.D688Y;NEDD4L:NM_001144966:exon24:c.G2062T:p.D688Y;NEDD4L:NM_001243960:exon23:c.G2233T:p.D745Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.G1417T:p.D473Y;ENSG00000049759:ENST00000435432:exon25:c.G2002T:p.D668Y;ENSG00000049759:ENST00000382850:exon24:c.G2365T:p.D789Y;ENSG00000049759:ENST00000456986:exon25:c.G2062T:p.D688Y;ENSG00000049759:ENST00000256830:exon22:c.G2113T:p.D705Y;ENSG00000049759:ENST00000456173:exon23:c.G2002T:p.D668Y;ENSG00000049759:ENST00000357895:exon25:c.G2401T:p.D801Y;ENSG00000049759:ENST00000256832:exon25:c.G2005T:p.D669Y;ENSG00000049759:ENST00000431212:exon24:c.G2062T:p.D688Y;ENSG00000049759:ENST00000356462:exon23:c.G2233T:p.D745Y;ENSG00000049759:ENST00000400345:exon25:c.G2425T:p.D809Y;ENSG00000049759:ENST00000586263:exon24:c.G2341T:p.D781Y;	0.992531042980647	0.688
18	56050551	A	C	18	58383319	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.A2342C:p.D781A;NEDD4L:NM_001144964:exon25:c.A2063C:p.D688A;NEDD4L:NM_015277:exon24:c.A2366C:p.D789A;NEDD4L:NM_001144967:exon25:c.A2426C:p.D809A;NEDD4L:NM_001144971:exon25:c.A2003C:p.D668A;NEDD4L:NM_001144968:exon25:c.A2402C:p.D801A;NEDD4L:NM_001144970:exon23:c.A2003C:p.D668A;NEDD4L:NM_001144965:exon25:c.A2063C:p.D688A;NEDD4L:NM_001144966:exon24:c.A2063C:p.D688A;NEDD4L:NM_001243960:exon23:c.A2234C:p.D745A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.A1418C:p.D473A;ENSG00000049759:ENST00000435432:exon25:c.A2003C:p.D668A;ENSG00000049759:ENST00000382850:exon24:c.A2366C:p.D789A;ENSG00000049759:ENST00000456986:exon25:c.A2063C:p.D688A;ENSG00000049759:ENST00000256830:exon22:c.A2114C:p.D705A;ENSG00000049759:ENST00000456173:exon23:c.A2003C:p.D668A;ENSG00000049759:ENST00000357895:exon25:c.A2402C:p.D801A;ENSG00000049759:ENST00000256832:exon25:c.A2006C:p.D669A;ENSG00000049759:ENST00000431212:exon24:c.A2063C:p.D688A;ENSG00000049759:ENST00000356462:exon23:c.A2234C:p.D745A;ENSG00000049759:ENST00000400345:exon25:c.A2426C:p.D809A;ENSG00000049759:ENST00000586263:exon24:c.A2342C:p.D781A;	0.716305037987896	0.702
18	56050551	A	G	18	58383319	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.A2342G:p.D781G;NEDD4L:NM_001144964:exon25:c.A2063G:p.D688G;NEDD4L:NM_015277:exon24:c.A2366G:p.D789G;NEDD4L:NM_001144967:exon25:c.A2426G:p.D809G;NEDD4L:NM_001144971:exon25:c.A2003G:p.D668G;NEDD4L:NM_001144968:exon25:c.A2402G:p.D801G;NEDD4L:NM_001144970:exon23:c.A2003G:p.D668G;NEDD4L:NM_001144965:exon25:c.A2063G:p.D688G;NEDD4L:NM_001144966:exon24:c.A2063G:p.D688G;NEDD4L:NM_001243960:exon23:c.A2234G:p.D745G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.A1418G:p.D473G;ENSG00000049759:ENST00000435432:exon25:c.A2003G:p.D668G;ENSG00000049759:ENST00000382850:exon24:c.A2366G:p.D789G;ENSG00000049759:ENST00000456986:exon25:c.A2063G:p.D688G;ENSG00000049759:ENST00000256830:exon22:c.A2114G:p.D705G;ENSG00000049759:ENST00000456173:exon23:c.A2003G:p.D668G;ENSG00000049759:ENST00000357895:exon25:c.A2402G:p.D801G;ENSG00000049759:ENST00000256832:exon25:c.A2006G:p.D669G;ENSG00000049759:ENST00000431212:exon24:c.A2063G:p.D688G;ENSG00000049759:ENST00000356462:exon23:c.A2234G:p.D745G;ENSG00000049759:ENST00000400345:exon25:c.A2426G:p.D809G;ENSG00000049759:ENST00000586263:exon24:c.A2342G:p.D781G;	0.399919005974062	0.312
18	56050551	A	T	18	58383319	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon24:c.A2342T:p.D781V;NEDD4L:NM_001144964:exon25:c.A2063T:p.D688V;NEDD4L:NM_015277:exon24:c.A2366T:p.D789V;NEDD4L:NM_001144967:exon25:c.A2426T:p.D809V;NEDD4L:NM_001144971:exon25:c.A2003T:p.D668V;NEDD4L:NM_001144968:exon25:c.A2402T:p.D801V;NEDD4L:NM_001144970:exon23:c.A2003T:p.D668V;NEDD4L:NM_001144965:exon25:c.A2063T:p.D688V;NEDD4L:NM_001144966:exon24:c.A2063T:p.D688V;NEDD4L:NM_001243960:exon23:c.A2234T:p.D745V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon14:c.A1418T:p.D473V;ENSG00000049759:ENST00000435432:exon25:c.A2003T:p.D668V;ENSG00000049759:ENST00000382850:exon24:c.A2366T:p.D789V;ENSG00000049759:ENST00000456986:exon25:c.A2063T:p.D688V;ENSG00000049759:ENST00000256830:exon22:c.A2114T:p.D705V;ENSG00000049759:ENST00000456173:exon23:c.A2003T:p.D668V;ENSG00000049759:ENST00000357895:exon25:c.A2402T:p.D801V;ENSG00000049759:ENST00000256832:exon25:c.A2006T:p.D669V;ENSG00000049759:ENST00000431212:exon24:c.A2063T:p.D688V;ENSG00000049759:ENST00000356462:exon23:c.A2234T:p.D745V;ENSG00000049759:ENST00000400345:exon25:c.A2426T:p.D809V;ENSG00000049759:ENST00000586263:exon24:c.A2342T:p.D781V;	0.63774981666326	0.444
18	56050552	G	A	18	58383320	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2426+1G>A;NM_001243960:exon23:c.2234+1G>A;NM_015277:exon24:c.2366+1G>A;NM_001144964:exon25:c.2063+1G>A;NM_001144968:exon25:c.2402+1G>A;NM_001144965:exon25:c.2063+1G>A;NM_001144971:exon25:c.2003+1G>A;NM_001144969:exon24:c.2342+1G>A;NM_001144970:exon23:c.2003+1G>A;NM_001144966:exon24:c.2063+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2234+1G>A;ENST00000400345:exon25:c.2426+1G>A;ENST00000256832:exon25:c.2006+1G>A;ENST00000382850:exon24:c.2366+1G>A;ENST00000256830:exon22:c.2114+1G>A;ENST00000456986:exon25:c.2063+1G>A;ENST00000357895:exon25:c.2402+1G>A;ENST00000435432:exon25:c.2003+1G>A;ENST00000586263:exon24:c.2342+1G>A;ENST00000456173:exon23:c.2003+1G>A;ENST00000431212:exon24:c.2063+1G>A;ENST00000587881:exon14:c.1418+1G>A)	.	.	0.999988630721284	0.938
18	56050552	G	C	18	58383320	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2426+1G>C;NM_001243960:exon23:c.2234+1G>C;NM_015277:exon24:c.2366+1G>C;NM_001144964:exon25:c.2063+1G>C;NM_001144968:exon25:c.2402+1G>C;NM_001144965:exon25:c.2063+1G>C;NM_001144971:exon25:c.2003+1G>C;NM_001144969:exon24:c.2342+1G>C;NM_001144970:exon23:c.2003+1G>C;NM_001144966:exon24:c.2063+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2234+1G>C;ENST00000400345:exon25:c.2426+1G>C;ENST00000256832:exon25:c.2006+1G>C;ENST00000382850:exon24:c.2366+1G>C;ENST00000256830:exon22:c.2114+1G>C;ENST00000456986:exon25:c.2063+1G>C;ENST00000357895:exon25:c.2402+1G>C;ENST00000435432:exon25:c.2003+1G>C;ENST00000586263:exon24:c.2342+1G>C;ENST00000456173:exon23:c.2003+1G>C;ENST00000431212:exon24:c.2063+1G>C;ENST00000587881:exon14:c.1418+1G>C)	.	.	0.999988630721284	0.938
18	56050552	G	T	18	58383320	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2426+1G>T;NM_001243960:exon23:c.2234+1G>T;NM_015277:exon24:c.2366+1G>T;NM_001144964:exon25:c.2063+1G>T;NM_001144968:exon25:c.2402+1G>T;NM_001144965:exon25:c.2063+1G>T;NM_001144971:exon25:c.2003+1G>T;NM_001144969:exon24:c.2342+1G>T;NM_001144970:exon23:c.2003+1G>T;NM_001144966:exon24:c.2063+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2234+1G>T;ENST00000400345:exon25:c.2426+1G>T;ENST00000256832:exon25:c.2006+1G>T;ENST00000382850:exon24:c.2366+1G>T;ENST00000256830:exon22:c.2114+1G>T;ENST00000456986:exon25:c.2063+1G>T;ENST00000357895:exon25:c.2402+1G>T;ENST00000435432:exon25:c.2003+1G>T;ENST00000586263:exon24:c.2342+1G>T;ENST00000456173:exon23:c.2003+1G>T;ENST00000431212:exon24:c.2063+1G>T;ENST00000587881:exon14:c.1418+1G>T)	.	.	0.999988630721284	0.938
18	56050553	T	A	18	58383321	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2426+2T>A;NM_001243960:exon23:c.2234+2T>A;NM_015277:exon24:c.2366+2T>A;NM_001144964:exon25:c.2063+2T>A;NM_001144968:exon25:c.2402+2T>A;NM_001144965:exon25:c.2063+2T>A;NM_001144971:exon25:c.2003+2T>A;NM_001144969:exon24:c.2342+2T>A;NM_001144970:exon23:c.2003+2T>A;NM_001144966:exon24:c.2063+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2234+2T>A;ENST00000400345:exon25:c.2426+2T>A;ENST00000256832:exon25:c.2006+2T>A;ENST00000382850:exon24:c.2366+2T>A;ENST00000256830:exon22:c.2114+2T>A;ENST00000456986:exon25:c.2063+2T>A;ENST00000357895:exon25:c.2402+2T>A;ENST00000435432:exon25:c.2003+2T>A;ENST00000586263:exon24:c.2342+2T>A;ENST00000456173:exon23:c.2003+2T>A;ENST00000431212:exon24:c.2063+2T>A;ENST00000587881:exon14:c.1418+2T>A)	.	.	0.999990764389106	0.94
18	56050553	T	C	18	58383321	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2426+2T>C;NM_001243960:exon23:c.2234+2T>C;NM_015277:exon24:c.2366+2T>C;NM_001144964:exon25:c.2063+2T>C;NM_001144968:exon25:c.2402+2T>C;NM_001144965:exon25:c.2063+2T>C;NM_001144971:exon25:c.2003+2T>C;NM_001144969:exon24:c.2342+2T>C;NM_001144970:exon23:c.2003+2T>C;NM_001144966:exon24:c.2063+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2234+2T>C;ENST00000400345:exon25:c.2426+2T>C;ENST00000256832:exon25:c.2006+2T>C;ENST00000382850:exon24:c.2366+2T>C;ENST00000256830:exon22:c.2114+2T>C;ENST00000456986:exon25:c.2063+2T>C;ENST00000357895:exon25:c.2402+2T>C;ENST00000435432:exon25:c.2003+2T>C;ENST00000586263:exon24:c.2342+2T>C;ENST00000456173:exon23:c.2003+2T>C;ENST00000431212:exon24:c.2063+2T>C;ENST00000587881:exon14:c.1418+2T>C)	.	.	0.994157908252347	0.702
18	56050553	T	G	18	58383321	y	y	splicing	NEDD4L(NM_001144967:exon25:c.2426+2T>G;NM_001243960:exon23:c.2234+2T>G;NM_015277:exon24:c.2366+2T>G;NM_001144964:exon25:c.2063+2T>G;NM_001144968:exon25:c.2402+2T>G;NM_001144965:exon25:c.2063+2T>G;NM_001144971:exon25:c.2003+2T>G;NM_001144969:exon24:c.2342+2T>G;NM_001144970:exon23:c.2003+2T>G;NM_001144966:exon24:c.2063+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon23:c.2234+2T>G;ENST00000400345:exon25:c.2426+2T>G;ENST00000256832:exon25:c.2006+2T>G;ENST00000382850:exon24:c.2366+2T>G;ENST00000256830:exon22:c.2114+2T>G;ENST00000456986:exon25:c.2063+2T>G;ENST00000357895:exon25:c.2402+2T>G;ENST00000435432:exon25:c.2003+2T>G;ENST00000586263:exon24:c.2342+2T>G;ENST00000456173:exon23:c.2003+2T>G;ENST00000431212:exon24:c.2063+2T>G;ENST00000587881:exon14:c.1418+2T>G)	.	.	0.999990764389106	0.94
18	56050554	A	C	18	58383322	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999920863457309	0.95
18	56050554	A	G	18	58383322	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99961116967145	0.942
18	56050554	A	T	18	58383322	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999975554373769	0.964
18	56050555	T	A	18	58383323	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.82679955272242E-4	0.004
18	56050555	T	C	18	58383323	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.17772975587306E-4	0.13
18	56050555	T	G	18	58383323	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.47484224027759E-4	0.114
18	56050556	G	A	18	58383324	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999955114468268	0.998
18	56050556	G	C	18	58383324	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999957584927548	1.0
18	56050556	G	T	18	58383324	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999957584927548	0.954
18	56050557	T	A	18	58383325	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996897828715138	0.866
18	56050557	T	C	18	58383325	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999337090746594	0.93
18	56050557	T	G	18	58383325	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.998437697827995	0.93
18	56050558	A	C	18	58383326	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.58718331421231E-4	0.0
18	56050558	A	G	18	58383326	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00103717464915302	0.02
18	56050558	A	T	18	58383326	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00317345458347369	0.068
18	56050559	T	A	18	58383327	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.66422221487967E-4	0.026
18	56050559	T	C	18	58383327	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.77214291517589E-4	0.014
18	56050559	T	G	18	58383327	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00180943876862557	0.062
18	56052746	T	A	18	58385514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.41006455729532E-4	0.042
18	56052746	T	C	18	58385514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.49329470994428E-5	0.0
18	56052746	T	G	18	58385514	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.74451640652644E-4	0.03
18	56052747	T	A	18	58385515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00746825026451561	0.162
18	56052747	T	C	18	58385515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.77169453139114E-4	0.056
18	56052747	T	G	18	58385515	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.79647115036725E-4	0.254
18	56052748	T	A	18	58385516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00512728066463231	0.108
18	56052748	T	C	18	58385516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.34206223884954E-4	0.006
18	56052748	T	G	18	58385516	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00113647071109898	0.06
18	56052749	C	A	18	58385517	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0036669647871201	0.14
18	56052749	C	G	18	58385517	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00227416491583614	0.054
18	56052749	C	T	18	58385517	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.65377518882862E-4	0.012
18	56052750	T	A	18	58385518	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.03172295945269E-4	0.036
18	56052750	T	C	18	58385518	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.95275628206098E-5	0.002
18	56052750	T	G	18	58385518	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.24091787915005E-4	0.052
18	56052751	C	A	18	58385519	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00255265802653886	0.032
18	56052751	C	G	18	58385519	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00255265802653886	0.028
18	56052751	C	T	18	58385519	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.32349775956794E-5	0.002
18	56052752	C	A	18	58385520	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00671205750886324	0.224
18	56052752	C	G	18	58385520	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00339894416803758	0.222
18	56052752	C	T	18	58385520	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.85875291415768E-4	0.02
18	56052753	T	A	18	58385521	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.977267350190081	0.732
18	56052753	T	C	18	58385521	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.39494534633775E-5	0.0
18	56052753	T	G	18	58385521	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.34059670964984E-4	0.06
18	56052754	G	A	18	58385522	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.49460119143737E-5	0.0
18	56052754	G	C	18	58385522	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.50665827115945E-5	0.014
18	56052754	G	T	18	58385522	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.56351237323898E-5	0.002
18	56052755	C	A	18	58385523	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99913154055791	0.766
18	56052755	C	G	18	58385523	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999881990696993	0.966
18	56052755	C	T	18	58385523	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.435318072787644	0.164
18	56052756	A	C	18	58385524	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2427-2A>C;NM_001243960:exon24:c.2235-2A>C;NM_015277:exon25:c.2367-2A>C;NM_001144964:exon26:c.2064-2A>C;NM_001144968:exon26:c.2403-2A>C;NM_001144965:exon26:c.2064-2A>C;NM_001144971:exon26:c.2004-2A>C;NM_001144969:exon25:c.2343-2A>C;NM_001144970:exon24:c.2004-2A>C;NM_001144966:exon25:c.2064-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2235-2A>C;ENST00000400345:exon26:c.2427-2A>C;ENST00000256832:exon26:c.2007-2A>C;ENST00000382850:exon25:c.2367-2A>C;ENST00000256830:exon23:c.2115-2A>C;ENST00000456986:exon26:c.2064-2A>C;ENST00000357895:exon26:c.2403-2A>C;ENST00000435432:exon26:c.2004-2A>C;ENST00000586263:exon25:c.2343-2A>C;ENST00000456173:exon24:c.2004-2A>C;ENST00000431212:exon25:c.2064-2A>C;ENST00000587881:exon15:c.1419-2A>C)	.	.	0.999988247793601	0.932
18	56052756	A	G	18	58385524	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2427-2A>G;NM_001243960:exon24:c.2235-2A>G;NM_015277:exon25:c.2367-2A>G;NM_001144964:exon26:c.2064-2A>G;NM_001144968:exon26:c.2403-2A>G;NM_001144965:exon26:c.2064-2A>G;NM_001144971:exon26:c.2004-2A>G;NM_001144969:exon25:c.2343-2A>G;NM_001144970:exon24:c.2004-2A>G;NM_001144966:exon25:c.2064-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2235-2A>G;ENST00000400345:exon26:c.2427-2A>G;ENST00000256832:exon26:c.2007-2A>G;ENST00000382850:exon25:c.2367-2A>G;ENST00000256830:exon23:c.2115-2A>G;ENST00000456986:exon26:c.2064-2A>G;ENST00000357895:exon26:c.2403-2A>G;ENST00000435432:exon26:c.2004-2A>G;ENST00000586263:exon25:c.2343-2A>G;ENST00000456173:exon24:c.2004-2A>G;ENST00000431212:exon25:c.2064-2A>G;ENST00000587881:exon15:c.1419-2A>G)	.	.	0.999988247793601	0.932
18	56052756	A	T	18	58385524	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2427-2A>T;NM_001243960:exon24:c.2235-2A>T;NM_015277:exon25:c.2367-2A>T;NM_001144964:exon26:c.2064-2A>T;NM_001144968:exon26:c.2403-2A>T;NM_001144965:exon26:c.2064-2A>T;NM_001144971:exon26:c.2004-2A>T;NM_001144969:exon25:c.2343-2A>T;NM_001144970:exon24:c.2004-2A>T;NM_001144966:exon25:c.2064-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2235-2A>T;ENST00000400345:exon26:c.2427-2A>T;ENST00000256832:exon26:c.2007-2A>T;ENST00000382850:exon25:c.2367-2A>T;ENST00000256830:exon23:c.2115-2A>T;ENST00000456986:exon26:c.2064-2A>T;ENST00000357895:exon26:c.2403-2A>T;ENST00000435432:exon26:c.2004-2A>T;ENST00000586263:exon25:c.2343-2A>T;ENST00000456173:exon24:c.2004-2A>T;ENST00000431212:exon25:c.2064-2A>T;ENST00000587881:exon15:c.1419-2A>T)	.	.	0.999988247793601	0.932
18	56052757	G	A	18	58385525	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2427-1G>A;NM_001243960:exon24:c.2235-1G>A;NM_015277:exon25:c.2367-1G>A;NM_001144964:exon26:c.2064-1G>A;NM_001144968:exon26:c.2403-1G>A;NM_001144965:exon26:c.2064-1G>A;NM_001144971:exon26:c.2004-1G>A;NM_001144969:exon25:c.2343-1G>A;NM_001144970:exon24:c.2004-1G>A;NM_001144966:exon25:c.2064-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2235-1G>A;ENST00000400345:exon26:c.2427-1G>A;ENST00000256832:exon26:c.2007-1G>A;ENST00000382850:exon25:c.2367-1G>A;ENST00000256830:exon23:c.2115-1G>A;ENST00000456986:exon26:c.2064-1G>A;ENST00000357895:exon26:c.2403-1G>A;ENST00000435432:exon26:c.2004-1G>A;ENST00000586263:exon25:c.2343-1G>A;ENST00000456173:exon24:c.2004-1G>A;ENST00000431212:exon25:c.2064-1G>A;ENST00000587881:exon15:c.1419-1G>A)	.	.	0.999990361384395	0.938
18	56052757	G	C	18	58385525	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2427-1G>C;NM_001243960:exon24:c.2235-1G>C;NM_015277:exon25:c.2367-1G>C;NM_001144964:exon26:c.2064-1G>C;NM_001144968:exon26:c.2403-1G>C;NM_001144965:exon26:c.2064-1G>C;NM_001144971:exon26:c.2004-1G>C;NM_001144969:exon25:c.2343-1G>C;NM_001144970:exon24:c.2004-1G>C;NM_001144966:exon25:c.2064-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2235-1G>C;ENST00000400345:exon26:c.2427-1G>C;ENST00000256832:exon26:c.2007-1G>C;ENST00000382850:exon25:c.2367-1G>C;ENST00000256830:exon23:c.2115-1G>C;ENST00000456986:exon26:c.2064-1G>C;ENST00000357895:exon26:c.2403-1G>C;ENST00000435432:exon26:c.2004-1G>C;ENST00000586263:exon25:c.2343-1G>C;ENST00000456173:exon24:c.2004-1G>C;ENST00000431212:exon25:c.2064-1G>C;ENST00000587881:exon15:c.1419-1G>C)	.	.	0.999990361384395	0.938
18	56052757	G	T	18	58385525	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2427-1G>T;NM_001243960:exon24:c.2235-1G>T;NM_015277:exon25:c.2367-1G>T;NM_001144964:exon26:c.2064-1G>T;NM_001144968:exon26:c.2403-1G>T;NM_001144965:exon26:c.2064-1G>T;NM_001144971:exon26:c.2004-1G>T;NM_001144969:exon25:c.2343-1G>T;NM_001144970:exon24:c.2004-1G>T;NM_001144966:exon25:c.2064-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2235-1G>T;ENST00000400345:exon26:c.2427-1G>T;ENST00000256832:exon26:c.2007-1G>T;ENST00000382850:exon25:c.2367-1G>T;ENST00000256830:exon23:c.2115-1G>T;ENST00000456986:exon26:c.2064-1G>T;ENST00000357895:exon26:c.2403-1G>T;ENST00000435432:exon26:c.2004-1G>T;ENST00000586263:exon25:c.2343-1G>T;ENST00000456173:exon24:c.2004-1G>T;ENST00000431212:exon25:c.2064-1G>T;ENST00000587881:exon15:c.1419-1G>T)	.	.	0.999990361384395	0.938
18	56052758	C	A	18	58385526	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.C2343A:p.D781E;NEDD4L:NM_001144964:exon26:c.C2064A:p.D688E;NEDD4L:NM_015277:exon25:c.C2367A:p.D789E;NEDD4L:NM_001144967:exon26:c.C2427A:p.D809E;NEDD4L:NM_001144971:exon26:c.C2004A:p.D668E;NEDD4L:NM_001144968:exon26:c.C2403A:p.D801E;NEDD4L:NM_001144970:exon24:c.C2004A:p.D668E;NEDD4L:NM_001144965:exon26:c.C2064A:p.D688E;NEDD4L:NM_001144966:exon25:c.C2064A:p.D688E;NEDD4L:NM_001243960:exon24:c.C2235A:p.D745E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.C1419A:p.D473E;ENSG00000049759:ENST00000435432:exon26:c.C2004A:p.D668E;ENSG00000049759:ENST00000382850:exon25:c.C2367A:p.D789E;ENSG00000049759:ENST00000456986:exon26:c.C2064A:p.D688E;ENSG00000049759:ENST00000256830:exon23:c.C2115A:p.D705E;ENSG00000049759:ENST00000456173:exon24:c.C2004A:p.D668E;ENSG00000049759:ENST00000357895:exon26:c.C2403A:p.D801E;ENSG00000049759:ENST00000256832:exon26:c.C2007A:p.D669E;ENSG00000049759:ENST00000431212:exon25:c.C2064A:p.D688E;ENSG00000049759:ENST00000356462:exon24:c.C2235A:p.D745E;ENSG00000049759:ENST00000400345:exon26:c.C2427A:p.D809E;ENSG00000049759:ENST00000586263:exon25:c.C2343A:p.D781E;	0.00238573771871458	0.056
18	56052758	C	G	18	58385526	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.C2343G:p.D781E;NEDD4L:NM_001144964:exon26:c.C2064G:p.D688E;NEDD4L:NM_015277:exon25:c.C2367G:p.D789E;NEDD4L:NM_001144967:exon26:c.C2427G:p.D809E;NEDD4L:NM_001144971:exon26:c.C2004G:p.D668E;NEDD4L:NM_001144968:exon26:c.C2403G:p.D801E;NEDD4L:NM_001144970:exon24:c.C2004G:p.D668E;NEDD4L:NM_001144965:exon26:c.C2064G:p.D688E;NEDD4L:NM_001144966:exon25:c.C2064G:p.D688E;NEDD4L:NM_001243960:exon24:c.C2235G:p.D745E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.C1419G:p.D473E;ENSG00000049759:ENST00000435432:exon26:c.C2004G:p.D668E;ENSG00000049759:ENST00000382850:exon25:c.C2367G:p.D789E;ENSG00000049759:ENST00000456986:exon26:c.C2064G:p.D688E;ENSG00000049759:ENST00000256830:exon23:c.C2115G:p.D705E;ENSG00000049759:ENST00000456173:exon24:c.C2004G:p.D668E;ENSG00000049759:ENST00000357895:exon26:c.C2403G:p.D801E;ENSG00000049759:ENST00000256832:exon26:c.C2007G:p.D669E;ENSG00000049759:ENST00000431212:exon25:c.C2064G:p.D688E;ENSG00000049759:ENST00000356462:exon24:c.C2235G:p.D745E;ENSG00000049759:ENST00000400345:exon26:c.C2427G:p.D809E;ENSG00000049759:ENST00000586263:exon25:c.C2343G:p.D781E;	0.00237049165844576	0.098
18	56052758	C	T	18	58385526	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon25:c.C2343T:p.D781D;NEDD4L:NM_001144964:exon26:c.C2064T:p.D688D;NEDD4L:NM_015277:exon25:c.C2367T:p.D789D;NEDD4L:NM_001144967:exon26:c.C2427T:p.D809D;NEDD4L:NM_001144971:exon26:c.C2004T:p.D668D;NEDD4L:NM_001144968:exon26:c.C2403T:p.D801D;NEDD4L:NM_001144970:exon24:c.C2004T:p.D668D;NEDD4L:NM_001144965:exon26:c.C2064T:p.D688D;NEDD4L:NM_001144966:exon25:c.C2064T:p.D688D;NEDD4L:NM_001243960:exon24:c.C2235T:p.D745D;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.C1419T:p.D473D;ENSG00000049759:ENST00000435432:exon26:c.C2004T:p.D668D;ENSG00000049759:ENST00000382850:exon25:c.C2367T:p.D789D;ENSG00000049759:ENST00000456986:exon26:c.C2064T:p.D688D;ENSG00000049759:ENST00000256830:exon23:c.C2115T:p.D705D;ENSG00000049759:ENST00000456173:exon24:c.C2004T:p.D668D;ENSG00000049759:ENST00000357895:exon26:c.C2403T:p.D801D;ENSG00000049759:ENST00000256832:exon26:c.C2007T:p.D669D;ENSG00000049759:ENST00000431212:exon25:c.C2064T:p.D688D;ENSG00000049759:ENST00000356462:exon24:c.C2235T:p.D745D;ENSG00000049759:ENST00000400345:exon26:c.C2427T:p.D809D;ENSG00000049759:ENST00000586263:exon25:c.C2343T:p.D781D;	0.0497683276450292	0.244
18	56052759	T	A	18	58385527	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.T2344A:p.L782I;NEDD4L:NM_001144964:exon26:c.T2065A:p.L689I;NEDD4L:NM_015277:exon25:c.T2368A:p.L790I;NEDD4L:NM_001144967:exon26:c.T2428A:p.L810I;NEDD4L:NM_001144971:exon26:c.T2005A:p.L669I;NEDD4L:NM_001144968:exon26:c.T2404A:p.L802I;NEDD4L:NM_001144970:exon24:c.T2005A:p.L669I;NEDD4L:NM_001144965:exon26:c.T2065A:p.L689I;NEDD4L:NM_001144966:exon25:c.T2065A:p.L689I;NEDD4L:NM_001243960:exon24:c.T2236A:p.L746I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.T1420A:p.L474I;ENSG00000049759:ENST00000435432:exon26:c.T2005A:p.L669I;ENSG00000049759:ENST00000382850:exon25:c.T2368A:p.L790I;ENSG00000049759:ENST00000456986:exon26:c.T2065A:p.L689I;ENSG00000049759:ENST00000256830:exon23:c.T2116A:p.L706I;ENSG00000049759:ENST00000456173:exon24:c.T2005A:p.L669I;ENSG00000049759:ENST00000357895:exon26:c.T2404A:p.L802I;ENSG00000049759:ENST00000256832:exon26:c.T2008A:p.L670I;ENSG00000049759:ENST00000431212:exon25:c.T2065A:p.L689I;ENSG00000049759:ENST00000356462:exon24:c.T2236A:p.L746I;ENSG00000049759:ENST00000400345:exon26:c.T2428A:p.L810I;ENSG00000049759:ENST00000586263:exon25:c.T2344A:p.L782I;	2.66093151257593E-5	0.064
18	56052759	T	C	18	58385527	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon25:c.T2344C:p.L782L;NEDD4L:NM_001144964:exon26:c.T2065C:p.L689L;NEDD4L:NM_015277:exon25:c.T2368C:p.L790L;NEDD4L:NM_001144967:exon26:c.T2428C:p.L810L;NEDD4L:NM_001144971:exon26:c.T2005C:p.L669L;NEDD4L:NM_001144968:exon26:c.T2404C:p.L802L;NEDD4L:NM_001144970:exon24:c.T2005C:p.L669L;NEDD4L:NM_001144965:exon26:c.T2065C:p.L689L;NEDD4L:NM_001144966:exon25:c.T2065C:p.L689L;NEDD4L:NM_001243960:exon24:c.T2236C:p.L746L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.T1420C:p.L474L;ENSG00000049759:ENST00000435432:exon26:c.T2005C:p.L669L;ENSG00000049759:ENST00000382850:exon25:c.T2368C:p.L790L;ENSG00000049759:ENST00000456986:exon26:c.T2065C:p.L689L;ENSG00000049759:ENST00000256830:exon23:c.T2116C:p.L706L;ENSG00000049759:ENST00000456173:exon24:c.T2005C:p.L669L;ENSG00000049759:ENST00000357895:exon26:c.T2404C:p.L802L;ENSG00000049759:ENST00000256832:exon26:c.T2008C:p.L670L;ENSG00000049759:ENST00000431212:exon25:c.T2065C:p.L689L;ENSG00000049759:ENST00000356462:exon24:c.T2236C:p.L746L;ENSG00000049759:ENST00000400345:exon26:c.T2428C:p.L810L;ENSG00000049759:ENST00000586263:exon25:c.T2344C:p.L782L;	3.1919664949078E-4	0.022
18	56052759	T	G	18	58385527	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.T2344G:p.L782V;NEDD4L:NM_001144964:exon26:c.T2065G:p.L689V;NEDD4L:NM_015277:exon25:c.T2368G:p.L790V;NEDD4L:NM_001144967:exon26:c.T2428G:p.L810V;NEDD4L:NM_001144971:exon26:c.T2005G:p.L669V;NEDD4L:NM_001144968:exon26:c.T2404G:p.L802V;NEDD4L:NM_001144970:exon24:c.T2005G:p.L669V;NEDD4L:NM_001144965:exon26:c.T2065G:p.L689V;NEDD4L:NM_001144966:exon25:c.T2065G:p.L689V;NEDD4L:NM_001243960:exon24:c.T2236G:p.L746V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.T1420G:p.L474V;ENSG00000049759:ENST00000435432:exon26:c.T2005G:p.L669V;ENSG00000049759:ENST00000382850:exon25:c.T2368G:p.L790V;ENSG00000049759:ENST00000456986:exon26:c.T2065G:p.L689V;ENSG00000049759:ENST00000256830:exon23:c.T2116G:p.L706V;ENSG00000049759:ENST00000456173:exon24:c.T2005G:p.L669V;ENSG00000049759:ENST00000357895:exon26:c.T2404G:p.L802V;ENSG00000049759:ENST00000256832:exon26:c.T2008G:p.L670V;ENSG00000049759:ENST00000431212:exon25:c.T2065G:p.L689V;ENSG00000049759:ENST00000356462:exon24:c.T2236G:p.L746V;ENSG00000049759:ENST00000400345:exon26:c.T2428G:p.L810V;ENSG00000049759:ENST00000586263:exon25:c.T2344G:p.L782V;	2.36190425053488E-5	0.09
18	56052816	G	A	18	58385584	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.G2401A:p.E801K;NEDD4L:NM_001144964:exon26:c.G2122A:p.E708K;NEDD4L:NM_015277:exon25:c.G2425A:p.E809K;NEDD4L:NM_001144967:exon26:c.G2485A:p.E829K;NEDD4L:NM_001144971:exon26:c.G2062A:p.E688K;NEDD4L:NM_001144968:exon26:c.G2461A:p.E821K;NEDD4L:NM_001144970:exon24:c.G2062A:p.E688K;NEDD4L:NM_001144965:exon26:c.G2122A:p.E708K;NEDD4L:NM_001144966:exon25:c.G2122A:p.E708K;NEDD4L:NM_001243960:exon24:c.G2293A:p.E765K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.G1477A:p.E493K;ENSG00000049759:ENST00000435432:exon26:c.G2062A:p.E688K;ENSG00000049759:ENST00000382850:exon25:c.G2425A:p.E809K;ENSG00000049759:ENST00000456986:exon26:c.G2122A:p.E708K;ENSG00000049759:ENST00000256830:exon23:c.G2173A:p.E725K;ENSG00000049759:ENST00000456173:exon24:c.G2062A:p.E688K;ENSG00000049759:ENST00000357895:exon26:c.G2461A:p.E821K;ENSG00000049759:ENST00000256832:exon26:c.G2065A:p.E689K;ENSG00000049759:ENST00000431212:exon25:c.G2122A:p.E708K;ENSG00000049759:ENST00000356462:exon24:c.G2293A:p.E765K;ENSG00000049759:ENST00000400345:exon26:c.G2485A:p.E829K;ENSG00000049759:ENST00000586263:exon25:c.G2401A:p.E801K;	0.97145887165085	0.842
18	56052816	G	C	18	58385584	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.G2401C:p.E801Q;NEDD4L:NM_001144964:exon26:c.G2122C:p.E708Q;NEDD4L:NM_015277:exon25:c.G2425C:p.E809Q;NEDD4L:NM_001144967:exon26:c.G2485C:p.E829Q;NEDD4L:NM_001144971:exon26:c.G2062C:p.E688Q;NEDD4L:NM_001144968:exon26:c.G2461C:p.E821Q;NEDD4L:NM_001144970:exon24:c.G2062C:p.E688Q;NEDD4L:NM_001144965:exon26:c.G2122C:p.E708Q;NEDD4L:NM_001144966:exon25:c.G2122C:p.E708Q;NEDD4L:NM_001243960:exon24:c.G2293C:p.E765Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.G1477C:p.E493Q;ENSG00000049759:ENST00000435432:exon26:c.G2062C:p.E688Q;ENSG00000049759:ENST00000382850:exon25:c.G2425C:p.E809Q;ENSG00000049759:ENST00000456986:exon26:c.G2122C:p.E708Q;ENSG00000049759:ENST00000256830:exon23:c.G2173C:p.E725Q;ENSG00000049759:ENST00000456173:exon24:c.G2062C:p.E688Q;ENSG00000049759:ENST00000357895:exon26:c.G2461C:p.E821Q;ENSG00000049759:ENST00000256832:exon26:c.G2065C:p.E689Q;ENSG00000049759:ENST00000431212:exon25:c.G2122C:p.E708Q;ENSG00000049759:ENST00000356462:exon24:c.G2293C:p.E765Q;ENSG00000049759:ENST00000400345:exon26:c.G2485C:p.E829Q;ENSG00000049759:ENST00000586263:exon25:c.G2401C:p.E801Q;	0.97145887165085	0.804
18	56052816	G	T	18	58385584	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon25:c.G2401T:p.E801X;NEDD4L:NM_001144964:exon26:c.G2122T:p.E708X;NEDD4L:NM_015277:exon25:c.G2425T:p.E809X;NEDD4L:NM_001144967:exon26:c.G2485T:p.E829X;NEDD4L:NM_001144971:exon26:c.G2062T:p.E688X;NEDD4L:NM_001144968:exon26:c.G2461T:p.E821X;NEDD4L:NM_001144970:exon24:c.G2062T:p.E688X;NEDD4L:NM_001144965:exon26:c.G2122T:p.E708X;NEDD4L:NM_001144966:exon25:c.G2122T:p.E708X;NEDD4L:NM_001243960:exon24:c.G2293T:p.E765X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon15:c.G1477T:p.E493X;ENSG00000049759:ENST00000435432:exon26:c.G2062T:p.E688X;ENSG00000049759:ENST00000382850:exon25:c.G2425T:p.E809X;ENSG00000049759:ENST00000456986:exon26:c.G2122T:p.E708X;ENSG00000049759:ENST00000256830:exon23:c.G2173T:p.E725X;ENSG00000049759:ENST00000456173:exon24:c.G2062T:p.E688X;ENSG00000049759:ENST00000357895:exon26:c.G2461T:p.E821X;ENSG00000049759:ENST00000256832:exon26:c.G2065T:p.E689X;ENSG00000049759:ENST00000431212:exon25:c.G2122T:p.E708X;ENSG00000049759:ENST00000356462:exon24:c.G2293T:p.E765X;ENSG00000049759:ENST00000400345:exon26:c.G2485T:p.E829X;ENSG00000049759:ENST00000586263:exon25:c.G2401T:p.E801X;	0.990390966944262	0.902
18	56052817	A	C	18	58385585	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.A2402C:p.E801A;NEDD4L:NM_001144964:exon26:c.A2123C:p.E708A;NEDD4L:NM_015277:exon25:c.A2426C:p.E809A;NEDD4L:NM_001144967:exon26:c.A2486C:p.E829A;NEDD4L:NM_001144971:exon26:c.A2063C:p.E688A;NEDD4L:NM_001144968:exon26:c.A2462C:p.E821A;NEDD4L:NM_001144970:exon24:c.A2063C:p.E688A;NEDD4L:NM_001144965:exon26:c.A2123C:p.E708A;NEDD4L:NM_001144966:exon25:c.A2123C:p.E708A;NEDD4L:NM_001243960:exon24:c.A2294C:p.E765A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.A1478C:p.E493A;ENSG00000049759:ENST00000435432:exon26:c.A2063C:p.E688A;ENSG00000049759:ENST00000382850:exon25:c.A2426C:p.E809A;ENSG00000049759:ENST00000456986:exon26:c.A2123C:p.E708A;ENSG00000049759:ENST00000256830:exon23:c.A2174C:p.E725A;ENSG00000049759:ENST00000456173:exon24:c.A2063C:p.E688A;ENSG00000049759:ENST00000357895:exon26:c.A2462C:p.E821A;ENSG00000049759:ENST00000256832:exon26:c.A2066C:p.E689A;ENSG00000049759:ENST00000431212:exon25:c.A2123C:p.E708A;ENSG00000049759:ENST00000356462:exon24:c.A2294C:p.E765A;ENSG00000049759:ENST00000400345:exon26:c.A2486C:p.E829A;ENSG00000049759:ENST00000586263:exon25:c.A2402C:p.E801A;	0.990278694703747	0.868
18	56052817	A	G	18	58385585	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.A2402G:p.E801G;NEDD4L:NM_001144964:exon26:c.A2123G:p.E708G;NEDD4L:NM_015277:exon25:c.A2426G:p.E809G;NEDD4L:NM_001144967:exon26:c.A2486G:p.E829G;NEDD4L:NM_001144971:exon26:c.A2063G:p.E688G;NEDD4L:NM_001144968:exon26:c.A2462G:p.E821G;NEDD4L:NM_001144970:exon24:c.A2063G:p.E688G;NEDD4L:NM_001144965:exon26:c.A2123G:p.E708G;NEDD4L:NM_001144966:exon25:c.A2123G:p.E708G;NEDD4L:NM_001243960:exon24:c.A2294G:p.E765G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.A1478G:p.E493G;ENSG00000049759:ENST00000435432:exon26:c.A2063G:p.E688G;ENSG00000049759:ENST00000382850:exon25:c.A2426G:p.E809G;ENSG00000049759:ENST00000456986:exon26:c.A2123G:p.E708G;ENSG00000049759:ENST00000256830:exon23:c.A2174G:p.E725G;ENSG00000049759:ENST00000456173:exon24:c.A2063G:p.E688G;ENSG00000049759:ENST00000357895:exon26:c.A2462G:p.E821G;ENSG00000049759:ENST00000256832:exon26:c.A2066G:p.E689G;ENSG00000049759:ENST00000431212:exon25:c.A2123G:p.E708G;ENSG00000049759:ENST00000356462:exon24:c.A2294G:p.E765G;ENSG00000049759:ENST00000400345:exon26:c.A2486G:p.E829G;ENSG00000049759:ENST00000586263:exon25:c.A2402G:p.E801G;	0.995187925078145	0.896
18	56052817	A	T	18	58385585	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.A2402T:p.E801V;NEDD4L:NM_001144964:exon26:c.A2123T:p.E708V;NEDD4L:NM_015277:exon25:c.A2426T:p.E809V;NEDD4L:NM_001144967:exon26:c.A2486T:p.E829V;NEDD4L:NM_001144971:exon26:c.A2063T:p.E688V;NEDD4L:NM_001144968:exon26:c.A2462T:p.E821V;NEDD4L:NM_001144970:exon24:c.A2063T:p.E688V;NEDD4L:NM_001144965:exon26:c.A2123T:p.E708V;NEDD4L:NM_001144966:exon25:c.A2123T:p.E708V;NEDD4L:NM_001243960:exon24:c.A2294T:p.E765V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.A1478T:p.E493V;ENSG00000049759:ENST00000435432:exon26:c.A2063T:p.E688V;ENSG00000049759:ENST00000382850:exon25:c.A2426T:p.E809V;ENSG00000049759:ENST00000456986:exon26:c.A2123T:p.E708V;ENSG00000049759:ENST00000256830:exon23:c.A2174T:p.E725V;ENSG00000049759:ENST00000456173:exon24:c.A2063T:p.E688V;ENSG00000049759:ENST00000357895:exon26:c.A2462T:p.E821V;ENSG00000049759:ENST00000256832:exon26:c.A2066T:p.E689V;ENSG00000049759:ENST00000431212:exon25:c.A2123T:p.E708V;ENSG00000049759:ENST00000356462:exon24:c.A2294T:p.E765V;ENSG00000049759:ENST00000400345:exon26:c.A2486T:p.E829V;ENSG00000049759:ENST00000586263:exon25:c.A2402T:p.E801V;	0.990845758991925	0.788
18	56052818	G	A	18	58385586	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon25:c.G2403A:p.E801E;NEDD4L:NM_001144964:exon26:c.G2124A:p.E708E;NEDD4L:NM_015277:exon25:c.G2427A:p.E809E;NEDD4L:NM_001144967:exon26:c.G2487A:p.E829E;NEDD4L:NM_001144971:exon26:c.G2064A:p.E688E;NEDD4L:NM_001144968:exon26:c.G2463A:p.E821E;NEDD4L:NM_001144970:exon24:c.G2064A:p.E688E;NEDD4L:NM_001144965:exon26:c.G2124A:p.E708E;NEDD4L:NM_001144966:exon25:c.G2124A:p.E708E;NEDD4L:NM_001243960:exon24:c.G2295A:p.E765E;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.G1479A:p.E493E;ENSG00000049759:ENST00000435432:exon26:c.G2064A:p.E688E;ENSG00000049759:ENST00000382850:exon25:c.G2427A:p.E809E;ENSG00000049759:ENST00000456986:exon26:c.G2124A:p.E708E;ENSG00000049759:ENST00000256830:exon23:c.G2175A:p.E725E;ENSG00000049759:ENST00000456173:exon24:c.G2064A:p.E688E;ENSG00000049759:ENST00000357895:exon26:c.G2463A:p.E821E;ENSG00000049759:ENST00000256832:exon26:c.G2067A:p.E689E;ENSG00000049759:ENST00000431212:exon25:c.G2124A:p.E708E;ENSG00000049759:ENST00000356462:exon24:c.G2295A:p.E765E;ENSG00000049759:ENST00000400345:exon26:c.G2487A:p.E829E;ENSG00000049759:ENST00000586263:exon25:c.G2403A:p.E801E;	0.999234005428151	0.85
18	56052818	G	C	18	58385586	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.G2403C:p.E801D;NEDD4L:NM_001144964:exon26:c.G2124C:p.E708D;NEDD4L:NM_015277:exon25:c.G2427C:p.E809D;NEDD4L:NM_001144967:exon26:c.G2487C:p.E829D;NEDD4L:NM_001144971:exon26:c.G2064C:p.E688D;NEDD4L:NM_001144968:exon26:c.G2463C:p.E821D;NEDD4L:NM_001144970:exon24:c.G2064C:p.E688D;NEDD4L:NM_001144965:exon26:c.G2124C:p.E708D;NEDD4L:NM_001144966:exon25:c.G2124C:p.E708D;NEDD4L:NM_001243960:exon24:c.G2295C:p.E765D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.G1479C:p.E493D;ENSG00000049759:ENST00000435432:exon26:c.G2064C:p.E688D;ENSG00000049759:ENST00000382850:exon25:c.G2427C:p.E809D;ENSG00000049759:ENST00000456986:exon26:c.G2124C:p.E708D;ENSG00000049759:ENST00000256830:exon23:c.G2175C:p.E725D;ENSG00000049759:ENST00000456173:exon24:c.G2064C:p.E688D;ENSG00000049759:ENST00000357895:exon26:c.G2463C:p.E821D;ENSG00000049759:ENST00000256832:exon26:c.G2067C:p.E689D;ENSG00000049759:ENST00000431212:exon25:c.G2124C:p.E708D;ENSG00000049759:ENST00000356462:exon24:c.G2295C:p.E765D;ENSG00000049759:ENST00000400345:exon26:c.G2487C:p.E829D;ENSG00000049759:ENST00000586263:exon25:c.G2403C:p.E801D;	0.99995526189303	0.942
18	56052818	G	T	18	58385586	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon25:c.G2403T:p.E801D;NEDD4L:NM_001144964:exon26:c.G2124T:p.E708D;NEDD4L:NM_015277:exon25:c.G2427T:p.E809D;NEDD4L:NM_001144967:exon26:c.G2487T:p.E829D;NEDD4L:NM_001144971:exon26:c.G2064T:p.E688D;NEDD4L:NM_001144968:exon26:c.G2463T:p.E821D;NEDD4L:NM_001144970:exon24:c.G2064T:p.E688D;NEDD4L:NM_001144965:exon26:c.G2124T:p.E708D;NEDD4L:NM_001144966:exon25:c.G2124T:p.E708D;NEDD4L:NM_001243960:exon24:c.G2295T:p.E765D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon15:c.G1479T:p.E493D;ENSG00000049759:ENST00000435432:exon26:c.G2064T:p.E688D;ENSG00000049759:ENST00000382850:exon25:c.G2427T:p.E809D;ENSG00000049759:ENST00000456986:exon26:c.G2124T:p.E708D;ENSG00000049759:ENST00000256830:exon23:c.G2175T:p.E725D;ENSG00000049759:ENST00000456173:exon24:c.G2064T:p.E688D;ENSG00000049759:ENST00000357895:exon26:c.G2463T:p.E821D;ENSG00000049759:ENST00000256832:exon26:c.G2067T:p.E689D;ENSG00000049759:ENST00000431212:exon25:c.G2124T:p.E708D;ENSG00000049759:ENST00000356462:exon24:c.G2295T:p.E765D;ENSG00000049759:ENST00000400345:exon26:c.G2487T:p.E829D;ENSG00000049759:ENST00000586263:exon25:c.G2403T:p.E801D;	0.999916885743617	0.982
18	56052819	G	A	18	58385587	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2487+1G>A;NM_001243960:exon24:c.2295+1G>A;NM_015277:exon25:c.2427+1G>A;NM_001144964:exon26:c.2124+1G>A;NM_001144968:exon26:c.2463+1G>A;NM_001144965:exon26:c.2124+1G>A;NM_001144971:exon26:c.2064+1G>A;NM_001144969:exon25:c.2403+1G>A;NM_001144970:exon24:c.2064+1G>A;NM_001144966:exon25:c.2124+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2295+1G>A;ENST00000400345:exon26:c.2487+1G>A;ENST00000256832:exon26:c.2067+1G>A;ENST00000382850:exon25:c.2427+1G>A;ENST00000256830:exon23:c.2175+1G>A;ENST00000456986:exon26:c.2124+1G>A;ENST00000357895:exon26:c.2463+1G>A;ENST00000435432:exon26:c.2064+1G>A;ENST00000586263:exon25:c.2403+1G>A;ENST00000456173:exon24:c.2064+1G>A;ENST00000431212:exon25:c.2124+1G>A;ENST00000587881:exon15:c.1479+1G>A)	.	.	0.999990361384395	0.938
18	56052819	G	C	18	58385587	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2487+1G>C;NM_001243960:exon24:c.2295+1G>C;NM_015277:exon25:c.2427+1G>C;NM_001144964:exon26:c.2124+1G>C;NM_001144968:exon26:c.2463+1G>C;NM_001144965:exon26:c.2124+1G>C;NM_001144971:exon26:c.2064+1G>C;NM_001144969:exon25:c.2403+1G>C;NM_001144970:exon24:c.2064+1G>C;NM_001144966:exon25:c.2124+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2295+1G>C;ENST00000400345:exon26:c.2487+1G>C;ENST00000256832:exon26:c.2067+1G>C;ENST00000382850:exon25:c.2427+1G>C;ENST00000256830:exon23:c.2175+1G>C;ENST00000456986:exon26:c.2124+1G>C;ENST00000357895:exon26:c.2463+1G>C;ENST00000435432:exon26:c.2064+1G>C;ENST00000586263:exon25:c.2403+1G>C;ENST00000456173:exon24:c.2064+1G>C;ENST00000431212:exon25:c.2124+1G>C;ENST00000587881:exon15:c.1479+1G>C)	.	.	0.999990361384395	0.938
18	56052819	G	T	18	58385587	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2487+1G>T;NM_001243960:exon24:c.2295+1G>T;NM_015277:exon25:c.2427+1G>T;NM_001144964:exon26:c.2124+1G>T;NM_001144968:exon26:c.2463+1G>T;NM_001144965:exon26:c.2124+1G>T;NM_001144971:exon26:c.2064+1G>T;NM_001144969:exon25:c.2403+1G>T;NM_001144970:exon24:c.2064+1G>T;NM_001144966:exon25:c.2124+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2295+1G>T;ENST00000400345:exon26:c.2487+1G>T;ENST00000256832:exon26:c.2067+1G>T;ENST00000382850:exon25:c.2427+1G>T;ENST00000256830:exon23:c.2175+1G>T;ENST00000456986:exon26:c.2124+1G>T;ENST00000357895:exon26:c.2463+1G>T;ENST00000435432:exon26:c.2064+1G>T;ENST00000586263:exon25:c.2403+1G>T;ENST00000456173:exon24:c.2064+1G>T;ENST00000431212:exon25:c.2124+1G>T;ENST00000587881:exon15:c.1479+1G>T)	.	.	0.999990361384395	0.938
18	56052820	T	A	18	58385588	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2487+2T>A;NM_001243960:exon24:c.2295+2T>A;NM_015277:exon25:c.2427+2T>A;NM_001144964:exon26:c.2124+2T>A;NM_001144968:exon26:c.2463+2T>A;NM_001144965:exon26:c.2124+2T>A;NM_001144971:exon26:c.2064+2T>A;NM_001144969:exon25:c.2403+2T>A;NM_001144970:exon24:c.2064+2T>A;NM_001144966:exon25:c.2124+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2295+2T>A;ENST00000400345:exon26:c.2487+2T>A;ENST00000256832:exon26:c.2067+2T>A;ENST00000382850:exon25:c.2427+2T>A;ENST00000256830:exon23:c.2175+2T>A;ENST00000456986:exon26:c.2124+2T>A;ENST00000357895:exon26:c.2463+2T>A;ENST00000435432:exon26:c.2064+2T>A;ENST00000586263:exon25:c.2403+2T>A;ENST00000456173:exon24:c.2064+2T>A;ENST00000431212:exon25:c.2124+2T>A;ENST00000587881:exon15:c.1479+2T>A)	.	.	0.999988247793601	0.932
18	56052820	T	C	18	58385588	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2487+2T>C;NM_001243960:exon24:c.2295+2T>C;NM_015277:exon25:c.2427+2T>C;NM_001144964:exon26:c.2124+2T>C;NM_001144968:exon26:c.2463+2T>C;NM_001144965:exon26:c.2124+2T>C;NM_001144971:exon26:c.2064+2T>C;NM_001144969:exon25:c.2403+2T>C;NM_001144970:exon24:c.2064+2T>C;NM_001144966:exon25:c.2124+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2295+2T>C;ENST00000400345:exon26:c.2487+2T>C;ENST00000256832:exon26:c.2067+2T>C;ENST00000382850:exon25:c.2427+2T>C;ENST00000256830:exon23:c.2175+2T>C;ENST00000456986:exon26:c.2124+2T>C;ENST00000357895:exon26:c.2463+2T>C;ENST00000435432:exon26:c.2064+2T>C;ENST00000586263:exon25:c.2403+2T>C;ENST00000456173:exon24:c.2064+2T>C;ENST00000431212:exon25:c.2124+2T>C;ENST00000587881:exon15:c.1479+2T>C)	.	.	0.99340600729494	0.7
18	56052820	T	G	18	58385588	y	y	splicing	NEDD4L(NM_001144967:exon26:c.2487+2T>G;NM_001243960:exon24:c.2295+2T>G;NM_015277:exon25:c.2427+2T>G;NM_001144964:exon26:c.2124+2T>G;NM_001144968:exon26:c.2463+2T>G;NM_001144965:exon26:c.2124+2T>G;NM_001144971:exon26:c.2064+2T>G;NM_001144969:exon25:c.2403+2T>G;NM_001144970:exon24:c.2064+2T>G;NM_001144966:exon25:c.2124+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon24:c.2295+2T>G;ENST00000400345:exon26:c.2487+2T>G;ENST00000256832:exon26:c.2067+2T>G;ENST00000382850:exon25:c.2427+2T>G;ENST00000256830:exon23:c.2175+2T>G;ENST00000456986:exon26:c.2124+2T>G;ENST00000357895:exon26:c.2463+2T>G;ENST00000435432:exon26:c.2064+2T>G;ENST00000586263:exon25:c.2403+2T>G;ENST00000456173:exon24:c.2064+2T>G;ENST00000431212:exon25:c.2124+2T>G;ENST00000587881:exon15:c.1479+2T>G)	.	.	0.999988247793601	0.932
18	56052821	A	C	18	58385589	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.245537050177287	0.244
18	56052821	A	G	18	58385589	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.40497993482198E-4	0.02
18	56052821	A	T	18	58385589	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.300195639321421	0.308
18	56052822	A	C	18	58385590	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0400965944872701	0.216
18	56052822	A	G	18	58385590	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.112695489530065	0.25
18	56052822	A	T	18	58385590	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.089289115230158	0.184
18	56052823	G	A	18	58385591	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99953577726227	0.728
18	56052823	G	C	18	58385591	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99696038110255	0.696
18	56052823	G	T	18	58385591	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999509699650423	0.792
18	56052824	C	A	18	58385592	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.70029402028591E-5	0.008
18	56052824	C	G	18	58385592	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.29109085384227E-4	0.032
18	56052824	C	T	18	58385592	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.73688778528699E-5	0.006
18	56052825	C	A	18	58385593	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.49895858778046E-5	0.002
18	56052825	C	G	18	58385593	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.85144085659726E-6	0.03
18	56052825	C	T	18	58385593	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.2127747562199E-5	0.002
18	56052826	A	C	18	58385594	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.19348260541807E-5	0.0
18	56052826	A	G	18	58385594	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.92290015889563E-5	0.004
18	56052826	A	T	18	58385594	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.92290015889563E-5	0.0
18	56054659	T	A	18	58387427	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.69222879523592E-4	0.148
18	56054659	T	C	18	58387427	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.17200640754234E-4	0.01
18	56054659	T	G	18	58387427	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.58128183333077E-4	0.162
18	56054660	T	A	18	58387428	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.51592387632637E-5	0.018
18	56054660	T	C	18	58387428	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.60800000373683E-5	0.002
18	56054660	T	G	18	58387428	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.07260890602361E-4	0.046
18	56054661	T	A	18	58387429	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.60948271242691E-5	0.016
18	56054661	T	C	18	58387429	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.52080131790989E-5	0.004
18	56054661	T	G	18	58387429	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.2548924814149E-5	0.046
18	56054662	T	A	18	58387430	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.10282005632527E-4	0.066
18	56054662	T	C	18	58387430	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.34654263627314E-5	0.002
18	56054662	T	G	18	58387430	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.38109114065044E-5	0.074
18	56054663	T	A	18	58387431	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.32036169823515E-5	0.01
18	56054663	T	C	18	58387431	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.33768085314165E-5	0.0
18	56054663	T	G	18	58387431	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.32036169823515E-5	0.012
18	56054664	C	A	18	58387432	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.46666344181016E-5	0.024
18	56054664	C	G	18	58387432	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.45582919591517E-5	0.012
18	56054664	C	T	18	58387432	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.5915176942089E-5	0.0
18	56054665	T	A	18	58387433	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00391133100509843	0.232
18	56054665	T	C	18	58387433	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.2344550838224E-4	0.066
18	56054665	T	G	18	58387433	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00497790418494992	0.208
18	56054666	T	A	18	58387434	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00280480363673612	0.344
18	56054666	T	C	18	58387434	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0026264914038705	0.122
18	56054666	T	G	18	58387434	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00234078145503097	0.308
18	56054667	T	A	18	58387435	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.17466101753072E-4	0.018
18	56054667	T	C	18	58387435	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.66509691148951E-4	0.024
18	56054667	T	G	18	58387435	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.06107806059287E-4	0.014
18	56054668	C	A	18	58387436	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.609929316019831	0.446
18	56054668	C	G	18	58387436	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.9988141411291	0.774
18	56054668	C	T	18	58387436	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.202467053025403	0.306
18	56054669	A	C	18	58387437	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2488-2A>C;NM_001243960:exon25:c.2296-2A>C;NM_015277:exon26:c.2428-2A>C;NM_001144964:exon27:c.2125-2A>C;NM_001144968:exon27:c.2464-2A>C;NM_001144965:exon27:c.2125-2A>C;NM_001144971:exon27:c.2065-2A>C;NM_001144969:exon26:c.2404-2A>C;NM_001144970:exon25:c.2065-2A>C;NM_001144966:exon26:c.2125-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2296-2A>C;ENST00000400345:exon27:c.2488-2A>C;ENST00000256832:exon27:c.2068-2A>C;ENST00000382850:exon26:c.2428-2A>C;ENST00000256830:exon24:c.2176-2A>C;ENST00000456986:exon27:c.2125-2A>C;ENST00000357895:exon27:c.2464-2A>C;ENST00000435432:exon27:c.2065-2A>C;ENST00000586263:exon26:c.2404-2A>C;ENST00000456173:exon25:c.2065-2A>C;ENST00000431212:exon26:c.2125-2A>C;ENST00000587881:exon16:c.1480-2A>C)	.	.	0.999988247793601	0.928
18	56054669	A	G	18	58387437	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2488-2A>G;NM_001243960:exon25:c.2296-2A>G;NM_015277:exon26:c.2428-2A>G;NM_001144964:exon27:c.2125-2A>G;NM_001144968:exon27:c.2464-2A>G;NM_001144965:exon27:c.2125-2A>G;NM_001144971:exon27:c.2065-2A>G;NM_001144969:exon26:c.2404-2A>G;NM_001144970:exon25:c.2065-2A>G;NM_001144966:exon26:c.2125-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2296-2A>G;ENST00000400345:exon27:c.2488-2A>G;ENST00000256832:exon27:c.2068-2A>G;ENST00000382850:exon26:c.2428-2A>G;ENST00000256830:exon24:c.2176-2A>G;ENST00000456986:exon27:c.2125-2A>G;ENST00000357895:exon27:c.2464-2A>G;ENST00000435432:exon27:c.2065-2A>G;ENST00000586263:exon26:c.2404-2A>G;ENST00000456173:exon25:c.2065-2A>G;ENST00000431212:exon26:c.2125-2A>G;ENST00000587881:exon16:c.1480-2A>G)	.	.	0.999988247793601	0.928
18	56054669	A	T	18	58387437	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2488-2A>T;NM_001243960:exon25:c.2296-2A>T;NM_015277:exon26:c.2428-2A>T;NM_001144964:exon27:c.2125-2A>T;NM_001144968:exon27:c.2464-2A>T;NM_001144965:exon27:c.2125-2A>T;NM_001144971:exon27:c.2065-2A>T;NM_001144969:exon26:c.2404-2A>T;NM_001144970:exon25:c.2065-2A>T;NM_001144966:exon26:c.2125-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2296-2A>T;ENST00000400345:exon27:c.2488-2A>T;ENST00000256832:exon27:c.2068-2A>T;ENST00000382850:exon26:c.2428-2A>T;ENST00000256830:exon24:c.2176-2A>T;ENST00000456986:exon27:c.2125-2A>T;ENST00000357895:exon27:c.2464-2A>T;ENST00000435432:exon27:c.2065-2A>T;ENST00000586263:exon26:c.2404-2A>T;ENST00000456173:exon25:c.2065-2A>T;ENST00000431212:exon26:c.2125-2A>T;ENST00000587881:exon16:c.1480-2A>T)	.	.	0.999988247793601	0.928
18	56054670	G	A	18	58387438	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2488-1G>A;NM_001243960:exon25:c.2296-1G>A;NM_015277:exon26:c.2428-1G>A;NM_001144964:exon27:c.2125-1G>A;NM_001144968:exon27:c.2464-1G>A;NM_001144965:exon27:c.2125-1G>A;NM_001144971:exon27:c.2065-1G>A;NM_001144969:exon26:c.2404-1G>A;NM_001144970:exon25:c.2065-1G>A;NM_001144966:exon26:c.2125-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2296-1G>A;ENST00000400345:exon27:c.2488-1G>A;ENST00000256832:exon27:c.2068-1G>A;ENST00000382850:exon26:c.2428-1G>A;ENST00000256830:exon24:c.2176-1G>A;ENST00000456986:exon27:c.2125-1G>A;ENST00000357895:exon27:c.2464-1G>A;ENST00000435432:exon27:c.2065-1G>A;ENST00000586263:exon26:c.2404-1G>A;ENST00000456173:exon25:c.2065-1G>A;ENST00000431212:exon26:c.2125-1G>A;ENST00000587881:exon16:c.1480-1G>A)	.	.	0.999985532734767	0.936
18	56054670	G	C	18	58387438	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2488-1G>C;NM_001243960:exon25:c.2296-1G>C;NM_015277:exon26:c.2428-1G>C;NM_001144964:exon27:c.2125-1G>C;NM_001144968:exon27:c.2464-1G>C;NM_001144965:exon27:c.2125-1G>C;NM_001144971:exon27:c.2065-1G>C;NM_001144969:exon26:c.2404-1G>C;NM_001144970:exon25:c.2065-1G>C;NM_001144966:exon26:c.2125-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2296-1G>C;ENST00000400345:exon27:c.2488-1G>C;ENST00000256832:exon27:c.2068-1G>C;ENST00000382850:exon26:c.2428-1G>C;ENST00000256830:exon24:c.2176-1G>C;ENST00000456986:exon27:c.2125-1G>C;ENST00000357895:exon27:c.2464-1G>C;ENST00000435432:exon27:c.2065-1G>C;ENST00000586263:exon26:c.2404-1G>C;ENST00000456173:exon25:c.2065-1G>C;ENST00000431212:exon26:c.2125-1G>C;ENST00000587881:exon16:c.1480-1G>C)	.	.	0.999985532734767	0.936
18	56054670	G	T	18	58387438	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2488-1G>T;NM_001243960:exon25:c.2296-1G>T;NM_015277:exon26:c.2428-1G>T;NM_001144964:exon27:c.2125-1G>T;NM_001144968:exon27:c.2464-1G>T;NM_001144965:exon27:c.2125-1G>T;NM_001144971:exon27:c.2065-1G>T;NM_001144969:exon26:c.2404-1G>T;NM_001144970:exon25:c.2065-1G>T;NM_001144966:exon26:c.2125-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2296-1G>T;ENST00000400345:exon27:c.2488-1G>T;ENST00000256832:exon27:c.2068-1G>T;ENST00000382850:exon26:c.2428-1G>T;ENST00000256830:exon24:c.2176-1G>T;ENST00000456986:exon27:c.2125-1G>T;ENST00000357895:exon27:c.2464-1G>T;ENST00000435432:exon27:c.2065-1G>T;ENST00000586263:exon26:c.2404-1G>T;ENST00000456173:exon25:c.2065-1G>T;ENST00000431212:exon26:c.2125-1G>T;ENST00000587881:exon16:c.1480-1G>T)	.	.	0.999985532734767	0.936
18	56054671	G	A	18	58387439	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2404A:p.G802R;NEDD4L:NM_001144964:exon27:c.G2125A:p.G709R;NEDD4L:NM_015277:exon26:c.G2428A:p.G810R;NEDD4L:NM_001144967:exon27:c.G2488A:p.G830R;NEDD4L:NM_001144971:exon27:c.G2065A:p.G689R;NEDD4L:NM_001144968:exon27:c.G2464A:p.G822R;NEDD4L:NM_001144970:exon25:c.G2065A:p.G689R;NEDD4L:NM_001144965:exon27:c.G2125A:p.G709R;NEDD4L:NM_001144966:exon26:c.G2125A:p.G709R;NEDD4L:NM_001243960:exon25:c.G2296A:p.G766R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1480A:p.G494R;ENSG00000049759:ENST00000435432:exon27:c.G2065A:p.G689R;ENSG00000049759:ENST00000382850:exon26:c.G2428A:p.G810R;ENSG00000049759:ENST00000456986:exon27:c.G2125A:p.G709R;ENSG00000049759:ENST00000256830:exon24:c.G2176A:p.G726R;ENSG00000049759:ENST00000456173:exon25:c.G2065A:p.G689R;ENSG00000049759:ENST00000357895:exon27:c.G2464A:p.G822R;ENSG00000049759:ENST00000256832:exon27:c.G2068A:p.G690R;ENSG00000049759:ENST00000431212:exon26:c.G2125A:p.G709R;ENSG00000049759:ENST00000356462:exon25:c.G2296A:p.G766R;ENSG00000049759:ENST00000400345:exon27:c.G2488A:p.G830R;ENSG00000049759:ENST00000586263:exon26:c.G2404A:p.G802R;	0.997028273776285	0.766
18	56054671	G	C	18	58387439	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2404C:p.G802R;NEDD4L:NM_001144964:exon27:c.G2125C:p.G709R;NEDD4L:NM_015277:exon26:c.G2428C:p.G810R;NEDD4L:NM_001144967:exon27:c.G2488C:p.G830R;NEDD4L:NM_001144971:exon27:c.G2065C:p.G689R;NEDD4L:NM_001144968:exon27:c.G2464C:p.G822R;NEDD4L:NM_001144970:exon25:c.G2065C:p.G689R;NEDD4L:NM_001144965:exon27:c.G2125C:p.G709R;NEDD4L:NM_001144966:exon26:c.G2125C:p.G709R;NEDD4L:NM_001243960:exon25:c.G2296C:p.G766R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1480C:p.G494R;ENSG00000049759:ENST00000435432:exon27:c.G2065C:p.G689R;ENSG00000049759:ENST00000382850:exon26:c.G2428C:p.G810R;ENSG00000049759:ENST00000456986:exon27:c.G2125C:p.G709R;ENSG00000049759:ENST00000256830:exon24:c.G2176C:p.G726R;ENSG00000049759:ENST00000456173:exon25:c.G2065C:p.G689R;ENSG00000049759:ENST00000357895:exon27:c.G2464C:p.G822R;ENSG00000049759:ENST00000256832:exon27:c.G2068C:p.G690R;ENSG00000049759:ENST00000431212:exon26:c.G2125C:p.G709R;ENSG00000049759:ENST00000356462:exon25:c.G2296C:p.G766R;ENSG00000049759:ENST00000400345:exon27:c.G2488C:p.G830R;ENSG00000049759:ENST00000586263:exon26:c.G2404C:p.G802R;	0.99804968213068	0.748
18	56054671	G	T	18	58387439	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon26:c.G2404T:p.G802X;NEDD4L:NM_001144964:exon27:c.G2125T:p.G709X;NEDD4L:NM_015277:exon26:c.G2428T:p.G810X;NEDD4L:NM_001144967:exon27:c.G2488T:p.G830X;NEDD4L:NM_001144971:exon27:c.G2065T:p.G689X;NEDD4L:NM_001144968:exon27:c.G2464T:p.G822X;NEDD4L:NM_001144970:exon25:c.G2065T:p.G689X;NEDD4L:NM_001144965:exon27:c.G2125T:p.G709X;NEDD4L:NM_001144966:exon26:c.G2125T:p.G709X;NEDD4L:NM_001243960:exon25:c.G2296T:p.G766X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon16:c.G1480T:p.G494X;ENSG00000049759:ENST00000435432:exon27:c.G2065T:p.G689X;ENSG00000049759:ENST00000382850:exon26:c.G2428T:p.G810X;ENSG00000049759:ENST00000456986:exon27:c.G2125T:p.G709X;ENSG00000049759:ENST00000256830:exon24:c.G2176T:p.G726X;ENSG00000049759:ENST00000456173:exon25:c.G2065T:p.G689X;ENSG00000049759:ENST00000357895:exon27:c.G2464T:p.G822X;ENSG00000049759:ENST00000256832:exon27:c.G2068T:p.G690X;ENSG00000049759:ENST00000431212:exon26:c.G2125T:p.G709X;ENSG00000049759:ENST00000356462:exon25:c.G2296T:p.G766X;ENSG00000049759:ENST00000400345:exon27:c.G2488T:p.G830X;ENSG00000049759:ENST00000586263:exon26:c.G2404T:p.G802X;	0.998535181050461	0.728
18	56054672	G	A	18	58387440	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2405A:p.G802E;NEDD4L:NM_001144964:exon27:c.G2126A:p.G709E;NEDD4L:NM_015277:exon26:c.G2429A:p.G810E;NEDD4L:NM_001144967:exon27:c.G2489A:p.G830E;NEDD4L:NM_001144971:exon27:c.G2066A:p.G689E;NEDD4L:NM_001144968:exon27:c.G2465A:p.G822E;NEDD4L:NM_001144970:exon25:c.G2066A:p.G689E;NEDD4L:NM_001144965:exon27:c.G2126A:p.G709E;NEDD4L:NM_001144966:exon26:c.G2126A:p.G709E;NEDD4L:NM_001243960:exon25:c.G2297A:p.G766E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1481A:p.G494E;ENSG00000049759:ENST00000435432:exon27:c.G2066A:p.G689E;ENSG00000049759:ENST00000382850:exon26:c.G2429A:p.G810E;ENSG00000049759:ENST00000456986:exon27:c.G2126A:p.G709E;ENSG00000049759:ENST00000256830:exon24:c.G2177A:p.G726E;ENSG00000049759:ENST00000456173:exon25:c.G2066A:p.G689E;ENSG00000049759:ENST00000357895:exon27:c.G2465A:p.G822E;ENSG00000049759:ENST00000256832:exon27:c.G2069A:p.G690E;ENSG00000049759:ENST00000431212:exon26:c.G2126A:p.G709E;ENSG00000049759:ENST00000356462:exon25:c.G2297A:p.G766E;ENSG00000049759:ENST00000400345:exon27:c.G2489A:p.G830E;ENSG00000049759:ENST00000586263:exon26:c.G2405A:p.G802E;	0.980159615803072	0.89
18	56054672	G	C	18	58387440	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2405C:p.G802A;NEDD4L:NM_001144964:exon27:c.G2126C:p.G709A;NEDD4L:NM_015277:exon26:c.G2429C:p.G810A;NEDD4L:NM_001144967:exon27:c.G2489C:p.G830A;NEDD4L:NM_001144971:exon27:c.G2066C:p.G689A;NEDD4L:NM_001144968:exon27:c.G2465C:p.G822A;NEDD4L:NM_001144970:exon25:c.G2066C:p.G689A;NEDD4L:NM_001144965:exon27:c.G2126C:p.G709A;NEDD4L:NM_001144966:exon26:c.G2126C:p.G709A;NEDD4L:NM_001243960:exon25:c.G2297C:p.G766A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1481C:p.G494A;ENSG00000049759:ENST00000435432:exon27:c.G2066C:p.G689A;ENSG00000049759:ENST00000382850:exon26:c.G2429C:p.G810A;ENSG00000049759:ENST00000456986:exon27:c.G2126C:p.G709A;ENSG00000049759:ENST00000256830:exon24:c.G2177C:p.G726A;ENSG00000049759:ENST00000456173:exon25:c.G2066C:p.G689A;ENSG00000049759:ENST00000357895:exon27:c.G2465C:p.G822A;ENSG00000049759:ENST00000256832:exon27:c.G2069C:p.G690A;ENSG00000049759:ENST00000431212:exon26:c.G2126C:p.G709A;ENSG00000049759:ENST00000356462:exon25:c.G2297C:p.G766A;ENSG00000049759:ENST00000400345:exon27:c.G2489C:p.G830A;ENSG00000049759:ENST00000586263:exon26:c.G2405C:p.G802A;	0.976977793813785	0.842
18	56054672	G	T	18	58387440	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2405T:p.G802V;NEDD4L:NM_001144964:exon27:c.G2126T:p.G709V;NEDD4L:NM_015277:exon26:c.G2429T:p.G810V;NEDD4L:NM_001144967:exon27:c.G2489T:p.G830V;NEDD4L:NM_001144971:exon27:c.G2066T:p.G689V;NEDD4L:NM_001144968:exon27:c.G2465T:p.G822V;NEDD4L:NM_001144970:exon25:c.G2066T:p.G689V;NEDD4L:NM_001144965:exon27:c.G2126T:p.G709V;NEDD4L:NM_001144966:exon26:c.G2126T:p.G709V;NEDD4L:NM_001243960:exon25:c.G2297T:p.G766V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1481T:p.G494V;ENSG00000049759:ENST00000435432:exon27:c.G2066T:p.G689V;ENSG00000049759:ENST00000382850:exon26:c.G2429T:p.G810V;ENSG00000049759:ENST00000456986:exon27:c.G2126T:p.G709V;ENSG00000049759:ENST00000256830:exon24:c.G2177T:p.G726V;ENSG00000049759:ENST00000456173:exon25:c.G2066T:p.G689V;ENSG00000049759:ENST00000357895:exon27:c.G2465T:p.G822V;ENSG00000049759:ENST00000256832:exon27:c.G2069T:p.G690V;ENSG00000049759:ENST00000431212:exon26:c.G2126T:p.G709V;ENSG00000049759:ENST00000356462:exon25:c.G2297T:p.G766V;ENSG00000049759:ENST00000400345:exon27:c.G2489T:p.G830V;ENSG00000049759:ENST00000586263:exon26:c.G2405T:p.G802V;	0.974122690956094	0.874
18	56054728	G	A	18	58387496	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2461A:p.E821K;NEDD4L:NM_001144964:exon27:c.G2182A:p.E728K;NEDD4L:NM_015277:exon26:c.G2485A:p.E829K;NEDD4L:NM_001144967:exon27:c.G2545A:p.E849K;NEDD4L:NM_001144971:exon27:c.G2122A:p.E708K;NEDD4L:NM_001144968:exon27:c.G2521A:p.E841K;NEDD4L:NM_001144970:exon25:c.G2122A:p.E708K;NEDD4L:NM_001144965:exon27:c.G2182A:p.E728K;NEDD4L:NM_001144966:exon26:c.G2182A:p.E728K;NEDD4L:NM_001243960:exon25:c.G2353A:p.E785K;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1537A:p.E513K;ENSG00000049759:ENST00000435432:exon27:c.G2122A:p.E708K;ENSG00000049759:ENST00000382850:exon26:c.G2485A:p.E829K;ENSG00000049759:ENST00000456986:exon27:c.G2182A:p.E728K;ENSG00000049759:ENST00000256830:exon24:c.G2233A:p.E745K;ENSG00000049759:ENST00000456173:exon25:c.G2122A:p.E708K;ENSG00000049759:ENST00000357895:exon27:c.G2521A:p.E841K;ENSG00000049759:ENST00000256832:exon27:c.G2125A:p.E709K;ENSG00000049759:ENST00000431212:exon26:c.G2182A:p.E728K;ENSG00000049759:ENST00000356462:exon25:c.G2353A:p.E785K;ENSG00000049759:ENST00000400345:exon27:c.G2545A:p.E849K;ENSG00000049759:ENST00000586263:exon26:c.G2461A:p.E821K;	0.952312701328778	0.834
18	56054728	G	C	18	58387496	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2461C:p.E821Q;NEDD4L:NM_001144964:exon27:c.G2182C:p.E728Q;NEDD4L:NM_015277:exon26:c.G2485C:p.E829Q;NEDD4L:NM_001144967:exon27:c.G2545C:p.E849Q;NEDD4L:NM_001144971:exon27:c.G2122C:p.E708Q;NEDD4L:NM_001144968:exon27:c.G2521C:p.E841Q;NEDD4L:NM_001144970:exon25:c.G2122C:p.E708Q;NEDD4L:NM_001144965:exon27:c.G2182C:p.E728Q;NEDD4L:NM_001144966:exon26:c.G2182C:p.E728Q;NEDD4L:NM_001243960:exon25:c.G2353C:p.E785Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1537C:p.E513Q;ENSG00000049759:ENST00000435432:exon27:c.G2122C:p.E708Q;ENSG00000049759:ENST00000382850:exon26:c.G2485C:p.E829Q;ENSG00000049759:ENST00000456986:exon27:c.G2182C:p.E728Q;ENSG00000049759:ENST00000256830:exon24:c.G2233C:p.E745Q;ENSG00000049759:ENST00000456173:exon25:c.G2122C:p.E708Q;ENSG00000049759:ENST00000357895:exon27:c.G2521C:p.E841Q;ENSG00000049759:ENST00000256832:exon27:c.G2125C:p.E709Q;ENSG00000049759:ENST00000431212:exon26:c.G2182C:p.E728Q;ENSG00000049759:ENST00000356462:exon25:c.G2353C:p.E785Q;ENSG00000049759:ENST00000400345:exon27:c.G2545C:p.E849Q;ENSG00000049759:ENST00000586263:exon26:c.G2461C:p.E821Q;	0.933954661898948	0.78
18	56054728	G	T	18	58387496	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon26:c.G2461T:p.E821X;NEDD4L:NM_001144964:exon27:c.G2182T:p.E728X;NEDD4L:NM_015277:exon26:c.G2485T:p.E829X;NEDD4L:NM_001144967:exon27:c.G2545T:p.E849X;NEDD4L:NM_001144971:exon27:c.G2122T:p.E708X;NEDD4L:NM_001144968:exon27:c.G2521T:p.E841X;NEDD4L:NM_001144970:exon25:c.G2122T:p.E708X;NEDD4L:NM_001144965:exon27:c.G2182T:p.E728X;NEDD4L:NM_001144966:exon26:c.G2182T:p.E728X;NEDD4L:NM_001243960:exon25:c.G2353T:p.E785X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon16:c.G1537T:p.E513X;ENSG00000049759:ENST00000435432:exon27:c.G2122T:p.E708X;ENSG00000049759:ENST00000382850:exon26:c.G2485T:p.E829X;ENSG00000049759:ENST00000456986:exon27:c.G2182T:p.E728X;ENSG00000049759:ENST00000256830:exon24:c.G2233T:p.E745X;ENSG00000049759:ENST00000456173:exon25:c.G2122T:p.E708X;ENSG00000049759:ENST00000357895:exon27:c.G2521T:p.E841X;ENSG00000049759:ENST00000256832:exon27:c.G2125T:p.E709X;ENSG00000049759:ENST00000431212:exon26:c.G2182T:p.E728X;ENSG00000049759:ENST00000356462:exon25:c.G2353T:p.E785X;ENSG00000049759:ENST00000400345:exon27:c.G2545T:p.E849X;ENSG00000049759:ENST00000586263:exon26:c.G2461T:p.E821X;	0.979100390994696	0.81
18	56054729	A	C	18	58387497	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.A2462C:p.E821A;NEDD4L:NM_001144964:exon27:c.A2183C:p.E728A;NEDD4L:NM_015277:exon26:c.A2486C:p.E829A;NEDD4L:NM_001144967:exon27:c.A2546C:p.E849A;NEDD4L:NM_001144971:exon27:c.A2123C:p.E708A;NEDD4L:NM_001144968:exon27:c.A2522C:p.E841A;NEDD4L:NM_001144970:exon25:c.A2123C:p.E708A;NEDD4L:NM_001144965:exon27:c.A2183C:p.E728A;NEDD4L:NM_001144966:exon26:c.A2183C:p.E728A;NEDD4L:NM_001243960:exon25:c.A2354C:p.E785A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.A1538C:p.E513A;ENSG00000049759:ENST00000435432:exon27:c.A2123C:p.E708A;ENSG00000049759:ENST00000382850:exon26:c.A2486C:p.E829A;ENSG00000049759:ENST00000456986:exon27:c.A2183C:p.E728A;ENSG00000049759:ENST00000256830:exon24:c.A2234C:p.E745A;ENSG00000049759:ENST00000456173:exon25:c.A2123C:p.E708A;ENSG00000049759:ENST00000357895:exon27:c.A2522C:p.E841A;ENSG00000049759:ENST00000256832:exon27:c.A2126C:p.E709A;ENSG00000049759:ENST00000431212:exon26:c.A2183C:p.E728A;ENSG00000049759:ENST00000356462:exon25:c.A2354C:p.E785A;ENSG00000049759:ENST00000400345:exon27:c.A2546C:p.E849A;ENSG00000049759:ENST00000586263:exon26:c.A2462C:p.E821A;	0.999901450823788	0.996
18	56054729	A	G	18	58387497	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.A2462G:p.E821G;NEDD4L:NM_001144964:exon27:c.A2183G:p.E728G;NEDD4L:NM_015277:exon26:c.A2486G:p.E829G;NEDD4L:NM_001144967:exon27:c.A2546G:p.E849G;NEDD4L:NM_001144971:exon27:c.A2123G:p.E708G;NEDD4L:NM_001144968:exon27:c.A2522G:p.E841G;NEDD4L:NM_001144970:exon25:c.A2123G:p.E708G;NEDD4L:NM_001144965:exon27:c.A2183G:p.E728G;NEDD4L:NM_001144966:exon26:c.A2183G:p.E728G;NEDD4L:NM_001243960:exon25:c.A2354G:p.E785G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.A1538G:p.E513G;ENSG00000049759:ENST00000435432:exon27:c.A2123G:p.E708G;ENSG00000049759:ENST00000382850:exon26:c.A2486G:p.E829G;ENSG00000049759:ENST00000456986:exon27:c.A2183G:p.E728G;ENSG00000049759:ENST00000256830:exon24:c.A2234G:p.E745G;ENSG00000049759:ENST00000456173:exon25:c.A2123G:p.E708G;ENSG00000049759:ENST00000357895:exon27:c.A2522G:p.E841G;ENSG00000049759:ENST00000256832:exon27:c.A2126G:p.E709G;ENSG00000049759:ENST00000431212:exon26:c.A2183G:p.E728G;ENSG00000049759:ENST00000356462:exon25:c.A2354G:p.E785G;ENSG00000049759:ENST00000400345:exon27:c.A2546G:p.E849G;ENSG00000049759:ENST00000586263:exon26:c.A2462G:p.E821G;	0.99996884742737	0.996
18	56054729	A	T	18	58387497	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.A2462T:p.E821V;NEDD4L:NM_001144964:exon27:c.A2183T:p.E728V;NEDD4L:NM_015277:exon26:c.A2486T:p.E829V;NEDD4L:NM_001144967:exon27:c.A2546T:p.E849V;NEDD4L:NM_001144971:exon27:c.A2123T:p.E708V;NEDD4L:NM_001144968:exon27:c.A2522T:p.E841V;NEDD4L:NM_001144970:exon25:c.A2123T:p.E708V;NEDD4L:NM_001144965:exon27:c.A2183T:p.E728V;NEDD4L:NM_001144966:exon26:c.A2183T:p.E728V;NEDD4L:NM_001243960:exon25:c.A2354T:p.E785V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.A1538T:p.E513V;ENSG00000049759:ENST00000435432:exon27:c.A2123T:p.E708V;ENSG00000049759:ENST00000382850:exon26:c.A2486T:p.E829V;ENSG00000049759:ENST00000456986:exon27:c.A2183T:p.E728V;ENSG00000049759:ENST00000256830:exon24:c.A2234T:p.E745V;ENSG00000049759:ENST00000456173:exon25:c.A2123T:p.E708V;ENSG00000049759:ENST00000357895:exon27:c.A2522T:p.E841V;ENSG00000049759:ENST00000256832:exon27:c.A2126T:p.E709V;ENSG00000049759:ENST00000431212:exon26:c.A2183T:p.E728V;ENSG00000049759:ENST00000356462:exon25:c.A2354T:p.E785V;ENSG00000049759:ENST00000400345:exon27:c.A2546T:p.E849V;ENSG00000049759:ENST00000586263:exon26:c.A2462T:p.E821V;	0.999931127304823	0.968
18	56054730	G	A	18	58387498	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon26:c.G2463A:p.E821E;NEDD4L:NM_001144964:exon27:c.G2184A:p.E728E;NEDD4L:NM_015277:exon26:c.G2487A:p.E829E;NEDD4L:NM_001144967:exon27:c.G2547A:p.E849E;NEDD4L:NM_001144971:exon27:c.G2124A:p.E708E;NEDD4L:NM_001144968:exon27:c.G2523A:p.E841E;NEDD4L:NM_001144970:exon25:c.G2124A:p.E708E;NEDD4L:NM_001144965:exon27:c.G2184A:p.E728E;NEDD4L:NM_001144966:exon26:c.G2184A:p.E728E;NEDD4L:NM_001243960:exon25:c.G2355A:p.E785E;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1539A:p.E513E;ENSG00000049759:ENST00000435432:exon27:c.G2124A:p.E708E;ENSG00000049759:ENST00000382850:exon26:c.G2487A:p.E829E;ENSG00000049759:ENST00000456986:exon27:c.G2184A:p.E728E;ENSG00000049759:ENST00000256830:exon24:c.G2235A:p.E745E;ENSG00000049759:ENST00000456173:exon25:c.G2124A:p.E708E;ENSG00000049759:ENST00000357895:exon27:c.G2523A:p.E841E;ENSG00000049759:ENST00000256832:exon27:c.G2127A:p.E709E;ENSG00000049759:ENST00000431212:exon26:c.G2184A:p.E728E;ENSG00000049759:ENST00000356462:exon25:c.G2355A:p.E785E;ENSG00000049759:ENST00000400345:exon27:c.G2547A:p.E849E;ENSG00000049759:ENST00000586263:exon26:c.G2463A:p.E821E;	0.99998869549793	1.0
18	56054730	G	C	18	58387498	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2463C:p.E821D;NEDD4L:NM_001144964:exon27:c.G2184C:p.E728D;NEDD4L:NM_015277:exon26:c.G2487C:p.E829D;NEDD4L:NM_001144967:exon27:c.G2547C:p.E849D;NEDD4L:NM_001144971:exon27:c.G2124C:p.E708D;NEDD4L:NM_001144968:exon27:c.G2523C:p.E841D;NEDD4L:NM_001144970:exon25:c.G2124C:p.E708D;NEDD4L:NM_001144965:exon27:c.G2184C:p.E728D;NEDD4L:NM_001144966:exon26:c.G2184C:p.E728D;NEDD4L:NM_001243960:exon25:c.G2355C:p.E785D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1539C:p.E513D;ENSG00000049759:ENST00000435432:exon27:c.G2124C:p.E708D;ENSG00000049759:ENST00000382850:exon26:c.G2487C:p.E829D;ENSG00000049759:ENST00000456986:exon27:c.G2184C:p.E728D;ENSG00000049759:ENST00000256830:exon24:c.G2235C:p.E745D;ENSG00000049759:ENST00000456173:exon25:c.G2124C:p.E708D;ENSG00000049759:ENST00000357895:exon27:c.G2523C:p.E841D;ENSG00000049759:ENST00000256832:exon27:c.G2127C:p.E709D;ENSG00000049759:ENST00000431212:exon26:c.G2184C:p.E728D;ENSG00000049759:ENST00000356462:exon25:c.G2355C:p.E785D;ENSG00000049759:ENST00000400345:exon27:c.G2547C:p.E849D;ENSG00000049759:ENST00000586263:exon26:c.G2463C:p.E821D;	0.999997369593908	1.0
18	56054730	G	T	18	58387498	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon26:c.G2463T:p.E821D;NEDD4L:NM_001144964:exon27:c.G2184T:p.E728D;NEDD4L:NM_015277:exon26:c.G2487T:p.E829D;NEDD4L:NM_001144967:exon27:c.G2547T:p.E849D;NEDD4L:NM_001144971:exon27:c.G2124T:p.E708D;NEDD4L:NM_001144968:exon27:c.G2523T:p.E841D;NEDD4L:NM_001144970:exon25:c.G2124T:p.E708D;NEDD4L:NM_001144965:exon27:c.G2184T:p.E728D;NEDD4L:NM_001144966:exon26:c.G2184T:p.E728D;NEDD4L:NM_001243960:exon25:c.G2355T:p.E785D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon16:c.G1539T:p.E513D;ENSG00000049759:ENST00000435432:exon27:c.G2124T:p.E708D;ENSG00000049759:ENST00000382850:exon26:c.G2487T:p.E829D;ENSG00000049759:ENST00000456986:exon27:c.G2184T:p.E728D;ENSG00000049759:ENST00000256830:exon24:c.G2235T:p.E745D;ENSG00000049759:ENST00000456173:exon25:c.G2124T:p.E708D;ENSG00000049759:ENST00000357895:exon27:c.G2523T:p.E841D;ENSG00000049759:ENST00000256832:exon27:c.G2127T:p.E709D;ENSG00000049759:ENST00000431212:exon26:c.G2184T:p.E728D;ENSG00000049759:ENST00000356462:exon25:c.G2355T:p.E785D;ENSG00000049759:ENST00000400345:exon27:c.G2547T:p.E849D;ENSG00000049759:ENST00000586263:exon26:c.G2463T:p.E821D;	0.999991145267119	0.996
18	56054731	G	A	18	58387499	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2547+1G>A;NM_001243960:exon25:c.2355+1G>A;NM_015277:exon26:c.2487+1G>A;NM_001144964:exon27:c.2184+1G>A;NM_001144968:exon27:c.2523+1G>A;NM_001144965:exon27:c.2184+1G>A;NM_001144971:exon27:c.2124+1G>A;NM_001144969:exon26:c.2463+1G>A;NM_001144970:exon25:c.2124+1G>A;NM_001144966:exon26:c.2184+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2355+1G>A;ENST00000400345:exon27:c.2547+1G>A;ENST00000256832:exon27:c.2127+1G>A;ENST00000382850:exon26:c.2487+1G>A;ENST00000256830:exon24:c.2235+1G>A;ENST00000456986:exon27:c.2184+1G>A;ENST00000357895:exon27:c.2523+1G>A;ENST00000435432:exon27:c.2124+1G>A;ENST00000586263:exon26:c.2463+1G>A;ENST00000456173:exon25:c.2124+1G>A;ENST00000431212:exon26:c.2184+1G>A;ENST00000587881:exon16:c.1539+1G>A)	.	.	0.999983677848485	0.942
18	56054731	G	C	18	58387499	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2547+1G>C;NM_001243960:exon25:c.2355+1G>C;NM_015277:exon26:c.2487+1G>C;NM_001144964:exon27:c.2184+1G>C;NM_001144968:exon27:c.2523+1G>C;NM_001144965:exon27:c.2184+1G>C;NM_001144971:exon27:c.2124+1G>C;NM_001144969:exon26:c.2463+1G>C;NM_001144970:exon25:c.2124+1G>C;NM_001144966:exon26:c.2184+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2355+1G>C;ENST00000400345:exon27:c.2547+1G>C;ENST00000256832:exon27:c.2127+1G>C;ENST00000382850:exon26:c.2487+1G>C;ENST00000256830:exon24:c.2235+1G>C;ENST00000456986:exon27:c.2184+1G>C;ENST00000357895:exon27:c.2523+1G>C;ENST00000435432:exon27:c.2124+1G>C;ENST00000586263:exon26:c.2463+1G>C;ENST00000456173:exon25:c.2124+1G>C;ENST00000431212:exon26:c.2184+1G>C;ENST00000587881:exon16:c.1539+1G>C)	.	.	0.999983677848485	0.942
18	56054731	G	T	18	58387499	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2547+1G>T;NM_001243960:exon25:c.2355+1G>T;NM_015277:exon26:c.2487+1G>T;NM_001144964:exon27:c.2184+1G>T;NM_001144968:exon27:c.2523+1G>T;NM_001144965:exon27:c.2184+1G>T;NM_001144971:exon27:c.2124+1G>T;NM_001144969:exon26:c.2463+1G>T;NM_001144970:exon25:c.2124+1G>T;NM_001144966:exon26:c.2184+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2355+1G>T;ENST00000400345:exon27:c.2547+1G>T;ENST00000256832:exon27:c.2127+1G>T;ENST00000382850:exon26:c.2487+1G>T;ENST00000256830:exon24:c.2235+1G>T;ENST00000456986:exon27:c.2184+1G>T;ENST00000357895:exon27:c.2523+1G>T;ENST00000435432:exon27:c.2124+1G>T;ENST00000586263:exon26:c.2463+1G>T;ENST00000456173:exon25:c.2124+1G>T;ENST00000431212:exon26:c.2184+1G>T;ENST00000587881:exon16:c.1539+1G>T)	.	.	0.999983677848485	0.942
18	56054732	T	A	18	58387500	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2547+2T>A;NM_001243960:exon25:c.2355+2T>A;NM_015277:exon26:c.2487+2T>A;NM_001144964:exon27:c.2184+2T>A;NM_001144968:exon27:c.2523+2T>A;NM_001144965:exon27:c.2184+2T>A;NM_001144971:exon27:c.2124+2T>A;NM_001144969:exon26:c.2463+2T>A;NM_001144970:exon25:c.2124+2T>A;NM_001144966:exon26:c.2184+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2355+2T>A;ENST00000400345:exon27:c.2547+2T>A;ENST00000256832:exon27:c.2127+2T>A;ENST00000382850:exon26:c.2487+2T>A;ENST00000256830:exon24:c.2235+2T>A;ENST00000456986:exon27:c.2184+2T>A;ENST00000357895:exon27:c.2523+2T>A;ENST00000435432:exon27:c.2124+2T>A;ENST00000586263:exon26:c.2463+2T>A;ENST00000456173:exon25:c.2124+2T>A;ENST00000431212:exon26:c.2184+2T>A;ENST00000587881:exon16:c.1539+2T>A)	.	.	0.999986741007567	0.944
18	56054732	T	C	18	58387500	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2547+2T>C;NM_001243960:exon25:c.2355+2T>C;NM_015277:exon26:c.2487+2T>C;NM_001144964:exon27:c.2184+2T>C;NM_001144968:exon27:c.2523+2T>C;NM_001144965:exon27:c.2184+2T>C;NM_001144971:exon27:c.2124+2T>C;NM_001144969:exon26:c.2463+2T>C;NM_001144970:exon25:c.2124+2T>C;NM_001144966:exon26:c.2184+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2355+2T>C;ENST00000400345:exon27:c.2547+2T>C;ENST00000256832:exon27:c.2127+2T>C;ENST00000382850:exon26:c.2487+2T>C;ENST00000256830:exon24:c.2235+2T>C;ENST00000456986:exon27:c.2184+2T>C;ENST00000357895:exon27:c.2523+2T>C;ENST00000435432:exon27:c.2124+2T>C;ENST00000586263:exon26:c.2463+2T>C;ENST00000456173:exon25:c.2124+2T>C;ENST00000431212:exon26:c.2184+2T>C;ENST00000587881:exon16:c.1539+2T>C)	.	.	0.991645506214995	0.686
18	56054732	T	G	18	58387500	y	y	splicing	NEDD4L(NM_001144967:exon27:c.2547+2T>G;NM_001243960:exon25:c.2355+2T>G;NM_015277:exon26:c.2487+2T>G;NM_001144964:exon27:c.2184+2T>G;NM_001144968:exon27:c.2523+2T>G;NM_001144965:exon27:c.2184+2T>G;NM_001144971:exon27:c.2124+2T>G;NM_001144969:exon26:c.2463+2T>G;NM_001144970:exon25:c.2124+2T>G;NM_001144966:exon26:c.2184+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon25:c.2355+2T>G;ENST00000400345:exon27:c.2547+2T>G;ENST00000256832:exon27:c.2127+2T>G;ENST00000382850:exon26:c.2487+2T>G;ENST00000256830:exon24:c.2235+2T>G;ENST00000456986:exon27:c.2184+2T>G;ENST00000357895:exon27:c.2523+2T>G;ENST00000435432:exon27:c.2124+2T>G;ENST00000586263:exon26:c.2463+2T>G;ENST00000456173:exon25:c.2124+2T>G;ENST00000431212:exon26:c.2184+2T>G;ENST00000587881:exon16:c.1539+2T>G)	.	.	0.999986741007567	0.944
18	56054733	T	A	18	58387501	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.09254500066367E-4	0.04
18	56054733	T	C	18	58387501	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00101757483871398	0.092
18	56054733	T	G	18	58387501	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.2705500777216E-4	0.064
18	56054734	T	A	18	58387502	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.62605800753487E-4	0.044
18	56054734	T	C	18	58387502	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0108110228574036	0.236
18	56054734	T	G	18	58387502	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.95540260106393E-5	0.032
18	56054735	G	A	18	58387503	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999635838956273	0.992
18	56054735	G	C	18	58387503	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999975094934496	1.0
18	56054735	G	T	18	58387503	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999963103541231	0.972
18	56054736	T	A	18	58387504	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.990490036002816	0.766
18	56054736	T	C	18	58387504	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.994474439939008	0.924
18	56054736	T	G	18	58387504	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.993688036186036	0.908
18	56054737	A	C	18	58387505	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.17815906299571E-5	0.002
18	56054737	A	G	18	58387505	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.8394654997157E-4	0.022
18	56054737	A	T	18	58387505	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.85290863037809E-4	0.028
18	56054738	T	A	18	58387506	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00147485061184213	0.088
18	56054738	T	C	18	58387506	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.93671908044122E-4	0.192
18	56054738	T	G	18	58387506	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.11049811859848E-4	0.014
18	56056305	T	A	18	58389073	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.184291192865338	0.426
18	56056305	T	C	18	58389073	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.37192731606085E-4	0.03
18	56056305	T	G	18	58389073	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999956034621597	0.972
18	56056306	T	A	18	58389074	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.329567372326243	0.338
18	56056306	T	C	18	58389074	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.43210669589164E-4	0.05
18	56056306	T	G	18	58389074	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.283669152261497	0.352
18	56056307	T	A	18	58389075	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.509681317162835	0.51
18	56056307	T	C	18	58389075	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00340225738379051	0.116
18	56056307	T	G	18	58389075	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.223862014208763	0.536
18	56056308	T	A	18	58389076	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00451039392009746	0.122
18	56056308	T	C	18	58389076	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.00425242282639E-4	0.032
18	56056308	T	G	18	58389076	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00173868954292224	0.114
18	56056309	C	A	18	58389077	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00249341165719952	0.09
18	56056309	C	G	18	58389077	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00459656904725177	0.086
18	56056309	C	T	18	58389077	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.29234704895215E-5	0.002
18	56056310	T	A	18	58389078	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00458569329125323	0.076
18	56056310	T	C	18	58389078	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.3493026950582E-5	0.026
18	56056310	T	G	18	58389078	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00110020369997433	0.022
18	56056311	T	A	18	58389079	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0119254944023287	0.306
18	56056311	T	C	18	58389079	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.41746609342959E-5	0.032
18	56056311	T	G	18	58389079	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0237014367707327	0.352
18	56056312	C	A	18	58389080	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.40305370321561E-4	0.036
18	56056312	C	G	18	58389080	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.82818014256227E-4	0.046
18	56056312	C	T	18	58389080	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.47226774734786E-5	0.008
18	56056313	C	A	18	58389081	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.28983842419459E-5	0.01
18	56056313	C	G	18	58389081	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.67470014752839E-5	0.002
18	56056313	C	T	18	58389081	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.35861462708997E-5	0.0
18	56056314	T	A	18	58389082	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0124867752866607	0.306
18	56056314	T	C	18	58389082	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.0340516574875E-4	0.022
18	56056314	T	G	18	58389082	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.708341246323076	0.716
18	56056315	A	C	18	58389083	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2548-2A>C;NM_001243960:exon26:c.2356-2A>C;NM_015277:exon27:c.2488-2A>C;NM_001144964:exon28:c.2185-2A>C;NM_001144968:exon28:c.2524-2A>C;NM_001144965:exon28:c.2185-2A>C;NM_001144971:exon28:c.2125-2A>C;NM_001144969:exon27:c.2464-2A>C;NM_001144970:exon26:c.2125-2A>C;NM_001144966:exon27:c.2185-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2356-2A>C;ENST00000400345:exon28:c.2548-2A>C;ENST00000256832:exon28:c.2128-2A>C;ENST00000382850:exon27:c.2488-2A>C;ENST00000256830:exon25:c.2236-2A>C;ENST00000456986:exon28:c.2185-2A>C;ENST00000357895:exon28:c.2524-2A>C;ENST00000435432:exon28:c.2125-2A>C;ENST00000586263:exon27:c.2464-2A>C;ENST00000456173:exon26:c.2125-2A>C;ENST00000431212:exon27:c.2185-2A>C;ENST00000587881:exon17:c.1540-2A>C)	.	.	0.999946188727699	0.912
18	56056315	A	G	18	58389083	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2548-2A>G;NM_001243960:exon26:c.2356-2A>G;NM_015277:exon27:c.2488-2A>G;NM_001144964:exon28:c.2185-2A>G;NM_001144968:exon28:c.2524-2A>G;NM_001144965:exon28:c.2185-2A>G;NM_001144971:exon28:c.2125-2A>G;NM_001144969:exon27:c.2464-2A>G;NM_001144970:exon26:c.2125-2A>G;NM_001144966:exon27:c.2185-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2356-2A>G;ENST00000400345:exon28:c.2548-2A>G;ENST00000256832:exon28:c.2128-2A>G;ENST00000382850:exon27:c.2488-2A>G;ENST00000256830:exon25:c.2236-2A>G;ENST00000456986:exon28:c.2185-2A>G;ENST00000357895:exon28:c.2524-2A>G;ENST00000435432:exon28:c.2125-2A>G;ENST00000586263:exon27:c.2464-2A>G;ENST00000456173:exon26:c.2125-2A>G;ENST00000431212:exon27:c.2185-2A>G;ENST00000587881:exon17:c.1540-2A>G)	.	.	0.999946188727699	0.924
18	56056315	A	T	18	58389083	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2548-2A>T;NM_001243960:exon26:c.2356-2A>T;NM_015277:exon27:c.2488-2A>T;NM_001144964:exon28:c.2185-2A>T;NM_001144968:exon28:c.2524-2A>T;NM_001144965:exon28:c.2185-2A>T;NM_001144971:exon28:c.2125-2A>T;NM_001144969:exon27:c.2464-2A>T;NM_001144970:exon26:c.2125-2A>T;NM_001144966:exon27:c.2185-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2356-2A>T;ENST00000400345:exon28:c.2548-2A>T;ENST00000256832:exon28:c.2128-2A>T;ENST00000382850:exon27:c.2488-2A>T;ENST00000256830:exon25:c.2236-2A>T;ENST00000456986:exon28:c.2185-2A>T;ENST00000357895:exon28:c.2524-2A>T;ENST00000435432:exon28:c.2125-2A>T;ENST00000586263:exon27:c.2464-2A>T;ENST00000456173:exon26:c.2125-2A>T;ENST00000431212:exon27:c.2185-2A>T;ENST00000587881:exon17:c.1540-2A>T)	.	.	0.999946188727699	0.946
18	56056316	G	A	18	58389084	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2548-1G>A;NM_001243960:exon26:c.2356-1G>A;NM_015277:exon27:c.2488-1G>A;NM_001144964:exon28:c.2185-1G>A;NM_001144968:exon28:c.2524-1G>A;NM_001144965:exon28:c.2185-1G>A;NM_001144971:exon28:c.2125-1G>A;NM_001144969:exon27:c.2464-1G>A;NM_001144970:exon26:c.2125-1G>A;NM_001144966:exon27:c.2185-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2356-1G>A;ENST00000400345:exon28:c.2548-1G>A;ENST00000256832:exon28:c.2128-1G>A;ENST00000382850:exon27:c.2488-1G>A;ENST00000256830:exon25:c.2236-1G>A;ENST00000456986:exon28:c.2185-1G>A;ENST00000357895:exon28:c.2524-1G>A;ENST00000435432:exon28:c.2125-1G>A;ENST00000586263:exon27:c.2464-1G>A;ENST00000456173:exon26:c.2125-1G>A;ENST00000431212:exon27:c.2185-1G>A;ENST00000587881:exon17:c.1540-1G>A)	.	.	0.99993314117114	0.944
18	56056316	G	C	18	58389084	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2548-1G>C;NM_001243960:exon26:c.2356-1G>C;NM_015277:exon27:c.2488-1G>C;NM_001144964:exon28:c.2185-1G>C;NM_001144968:exon28:c.2524-1G>C;NM_001144965:exon28:c.2185-1G>C;NM_001144971:exon28:c.2125-1G>C;NM_001144969:exon27:c.2464-1G>C;NM_001144970:exon26:c.2125-1G>C;NM_001144966:exon27:c.2185-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2356-1G>C;ENST00000400345:exon28:c.2548-1G>C;ENST00000256832:exon28:c.2128-1G>C;ENST00000382850:exon27:c.2488-1G>C;ENST00000256830:exon25:c.2236-1G>C;ENST00000456986:exon28:c.2185-1G>C;ENST00000357895:exon28:c.2524-1G>C;ENST00000435432:exon28:c.2125-1G>C;ENST00000586263:exon27:c.2464-1G>C;ENST00000456173:exon26:c.2125-1G>C;ENST00000431212:exon27:c.2185-1G>C;ENST00000587881:exon17:c.1540-1G>C)	.	.	0.99993314117114	0.948
18	56056316	G	T	18	58389084	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2548-1G>T;NM_001243960:exon26:c.2356-1G>T;NM_015277:exon27:c.2488-1G>T;NM_001144964:exon28:c.2185-1G>T;NM_001144968:exon28:c.2524-1G>T;NM_001144965:exon28:c.2185-1G>T;NM_001144971:exon28:c.2125-1G>T;NM_001144969:exon27:c.2464-1G>T;NM_001144970:exon26:c.2125-1G>T;NM_001144966:exon27:c.2185-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2356-1G>T;ENST00000400345:exon28:c.2548-1G>T;ENST00000256832:exon28:c.2128-1G>T;ENST00000382850:exon27:c.2488-1G>T;ENST00000256830:exon25:c.2236-1G>T;ENST00000456986:exon28:c.2185-1G>T;ENST00000357895:exon28:c.2524-1G>T;ENST00000435432:exon28:c.2125-1G>T;ENST00000586263:exon27:c.2464-1G>T;ENST00000456173:exon26:c.2125-1G>T;ENST00000431212:exon27:c.2185-1G>T;ENST00000587881:exon17:c.1540-1G>T)	.	.	0.99993314117114	0.944
18	56056317	T	A	18	58389085	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.T2464A:p.L822M;NEDD4L:NM_001144964:exon28:c.T2185A:p.L729M;NEDD4L:NM_015277:exon27:c.T2488A:p.L830M;NEDD4L:NM_001144967:exon28:c.T2548A:p.L850M;NEDD4L:NM_001144971:exon28:c.T2125A:p.L709M;NEDD4L:NM_001144968:exon28:c.T2524A:p.L842M;NEDD4L:NM_001144970:exon26:c.T2125A:p.L709M;NEDD4L:NM_001144965:exon28:c.T2185A:p.L729M;NEDD4L:NM_001144966:exon27:c.T2185A:p.L729M;NEDD4L:NM_001243960:exon26:c.T2356A:p.L786M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.T1540A:p.L514M;ENSG00000049759:ENST00000435432:exon28:c.T2125A:p.L709M;ENSG00000049759:ENST00000382850:exon27:c.T2488A:p.L830M;ENSG00000049759:ENST00000456986:exon28:c.T2185A:p.L729M;ENSG00000049759:ENST00000256830:exon25:c.T2236A:p.L746M;ENSG00000049759:ENST00000456173:exon26:c.T2125A:p.L709M;ENSG00000049759:ENST00000357895:exon28:c.T2524A:p.L842M;ENSG00000049759:ENST00000256832:exon28:c.T2128A:p.L710M;ENSG00000049759:ENST00000431212:exon27:c.T2185A:p.L729M;ENSG00000049759:ENST00000356462:exon26:c.T2356A:p.L786M;ENSG00000049759:ENST00000400345:exon28:c.T2548A:p.L850M;ENSG00000049759:ENST00000586263:exon27:c.T2464A:p.L822M;	1.10959883706163E-4	0.052
18	56056317	T	C	18	58389085	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon27:c.T2464C:p.L822L;NEDD4L:NM_001144964:exon28:c.T2185C:p.L729L;NEDD4L:NM_015277:exon27:c.T2488C:p.L830L;NEDD4L:NM_001144967:exon28:c.T2548C:p.L850L;NEDD4L:NM_001144971:exon28:c.T2125C:p.L709L;NEDD4L:NM_001144968:exon28:c.T2524C:p.L842L;NEDD4L:NM_001144970:exon26:c.T2125C:p.L709L;NEDD4L:NM_001144965:exon28:c.T2185C:p.L729L;NEDD4L:NM_001144966:exon27:c.T2185C:p.L729L;NEDD4L:NM_001243960:exon26:c.T2356C:p.L786L;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.T1540C:p.L514L;ENSG00000049759:ENST00000435432:exon28:c.T2125C:p.L709L;ENSG00000049759:ENST00000382850:exon27:c.T2488C:p.L830L;ENSG00000049759:ENST00000456986:exon28:c.T2185C:p.L729L;ENSG00000049759:ENST00000256830:exon25:c.T2236C:p.L746L;ENSG00000049759:ENST00000456173:exon26:c.T2125C:p.L709L;ENSG00000049759:ENST00000357895:exon28:c.T2524C:p.L842L;ENSG00000049759:ENST00000256832:exon28:c.T2128C:p.L710L;ENSG00000049759:ENST00000431212:exon27:c.T2185C:p.L729L;ENSG00000049759:ENST00000356462:exon26:c.T2356C:p.L786L;ENSG00000049759:ENST00000400345:exon28:c.T2548C:p.L850L;ENSG00000049759:ENST00000586263:exon27:c.T2464C:p.L822L;	2.00961214222507E-4	0.006
18	56056317	T	G	18	58389085	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.T2464G:p.L822V;NEDD4L:NM_001144964:exon28:c.T2185G:p.L729V;NEDD4L:NM_015277:exon27:c.T2488G:p.L830V;NEDD4L:NM_001144967:exon28:c.T2548G:p.L850V;NEDD4L:NM_001144971:exon28:c.T2125G:p.L709V;NEDD4L:NM_001144968:exon28:c.T2524G:p.L842V;NEDD4L:NM_001144970:exon26:c.T2125G:p.L709V;NEDD4L:NM_001144965:exon28:c.T2185G:p.L729V;NEDD4L:NM_001144966:exon27:c.T2185G:p.L729V;NEDD4L:NM_001243960:exon26:c.T2356G:p.L786V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.T1540G:p.L514V;ENSG00000049759:ENST00000435432:exon28:c.T2125G:p.L709V;ENSG00000049759:ENST00000382850:exon27:c.T2488G:p.L830V;ENSG00000049759:ENST00000456986:exon28:c.T2185G:p.L729V;ENSG00000049759:ENST00000256830:exon25:c.T2236G:p.L746V;ENSG00000049759:ENST00000456173:exon26:c.T2125G:p.L709V;ENSG00000049759:ENST00000357895:exon28:c.T2524G:p.L842V;ENSG00000049759:ENST00000256832:exon28:c.T2128G:p.L710V;ENSG00000049759:ENST00000431212:exon27:c.T2185G:p.L729V;ENSG00000049759:ENST00000356462:exon26:c.T2356G:p.L786V;ENSG00000049759:ENST00000400345:exon28:c.T2548G:p.L850V;ENSG00000049759:ENST00000586263:exon27:c.T2464G:p.L822V;	1.34860523949589E-4	0.094
18	56056318	T	A	18	58389086	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon27:c.T2465A:p.L822X;NEDD4L:NM_001144964:exon28:c.T2186A:p.L729X;NEDD4L:NM_015277:exon27:c.T2489A:p.L830X;NEDD4L:NM_001144967:exon28:c.T2549A:p.L850X;NEDD4L:NM_001144971:exon28:c.T2126A:p.L709X;NEDD4L:NM_001144968:exon28:c.T2525A:p.L842X;NEDD4L:NM_001144970:exon26:c.T2126A:p.L709X;NEDD4L:NM_001144965:exon28:c.T2186A:p.L729X;NEDD4L:NM_001144966:exon27:c.T2186A:p.L729X;NEDD4L:NM_001243960:exon26:c.T2357A:p.L786X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon17:c.T1541A:p.L514X;ENSG00000049759:ENST00000435432:exon28:c.T2126A:p.L709X;ENSG00000049759:ENST00000382850:exon27:c.T2489A:p.L830X;ENSG00000049759:ENST00000456986:exon28:c.T2186A:p.L729X;ENSG00000049759:ENST00000256830:exon25:c.T2237A:p.L746X;ENSG00000049759:ENST00000456173:exon26:c.T2126A:p.L709X;ENSG00000049759:ENST00000357895:exon28:c.T2525A:p.L842X;ENSG00000049759:ENST00000256832:exon28:c.T2129A:p.L710X;ENSG00000049759:ENST00000431212:exon27:c.T2186A:p.L729X;ENSG00000049759:ENST00000356462:exon26:c.T2357A:p.L786X;ENSG00000049759:ENST00000400345:exon28:c.T2549A:p.L850X;ENSG00000049759:ENST00000586263:exon27:c.T2465A:p.L822X;	0.918454726349259	0.564
18	56056318	T	C	18	58389086	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.T2465C:p.L822S;NEDD4L:NM_001144964:exon28:c.T2186C:p.L729S;NEDD4L:NM_015277:exon27:c.T2489C:p.L830S;NEDD4L:NM_001144967:exon28:c.T2549C:p.L850S;NEDD4L:NM_001144971:exon28:c.T2126C:p.L709S;NEDD4L:NM_001144968:exon28:c.T2525C:p.L842S;NEDD4L:NM_001144970:exon26:c.T2126C:p.L709S;NEDD4L:NM_001144965:exon28:c.T2186C:p.L729S;NEDD4L:NM_001144966:exon27:c.T2186C:p.L729S;NEDD4L:NM_001243960:exon26:c.T2357C:p.L786S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.T1541C:p.L514S;ENSG00000049759:ENST00000435432:exon28:c.T2126C:p.L709S;ENSG00000049759:ENST00000382850:exon27:c.T2489C:p.L830S;ENSG00000049759:ENST00000456986:exon28:c.T2186C:p.L729S;ENSG00000049759:ENST00000256830:exon25:c.T2237C:p.L746S;ENSG00000049759:ENST00000456173:exon26:c.T2126C:p.L709S;ENSG00000049759:ENST00000357895:exon28:c.T2525C:p.L842S;ENSG00000049759:ENST00000256832:exon28:c.T2129C:p.L710S;ENSG00000049759:ENST00000431212:exon27:c.T2186C:p.L729S;ENSG00000049759:ENST00000356462:exon26:c.T2357C:p.L786S;ENSG00000049759:ENST00000400345:exon28:c.T2549C:p.L850S;ENSG00000049759:ENST00000586263:exon27:c.T2465C:p.L822S;	0.473934047003731	0.328
18	56056318	T	G	18	58389086	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.T2465G:p.L822W;NEDD4L:NM_001144964:exon28:c.T2186G:p.L729W;NEDD4L:NM_015277:exon27:c.T2489G:p.L830W;NEDD4L:NM_001144967:exon28:c.T2549G:p.L850W;NEDD4L:NM_001144971:exon28:c.T2126G:p.L709W;NEDD4L:NM_001144968:exon28:c.T2525G:p.L842W;NEDD4L:NM_001144970:exon26:c.T2126G:p.L709W;NEDD4L:NM_001144965:exon28:c.T2186G:p.L729W;NEDD4L:NM_001144966:exon27:c.T2186G:p.L729W;NEDD4L:NM_001243960:exon26:c.T2357G:p.L786W;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.T1541G:p.L514W;ENSG00000049759:ENST00000435432:exon28:c.T2126G:p.L709W;ENSG00000049759:ENST00000382850:exon27:c.T2489G:p.L830W;ENSG00000049759:ENST00000456986:exon28:c.T2186G:p.L729W;ENSG00000049759:ENST00000256830:exon25:c.T2237G:p.L746W;ENSG00000049759:ENST00000456173:exon26:c.T2126G:p.L709W;ENSG00000049759:ENST00000357895:exon28:c.T2525G:p.L842W;ENSG00000049759:ENST00000256832:exon28:c.T2129G:p.L710W;ENSG00000049759:ENST00000431212:exon27:c.T2186G:p.L729W;ENSG00000049759:ENST00000356462:exon26:c.T2357G:p.L786W;ENSG00000049759:ENST00000400345:exon28:c.T2549G:p.L850W;ENSG00000049759:ENST00000586263:exon27:c.T2465G:p.L822W;	0.597446220075776	0.34
18	56056422	A	C	18	58389190	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.A2569C:p.K857Q;NEDD4L:NM_001144964:exon28:c.A2290C:p.K764Q;NEDD4L:NM_015277:exon27:c.A2593C:p.K865Q;NEDD4L:NM_001144967:exon28:c.A2653C:p.K885Q;NEDD4L:NM_001144971:exon28:c.A2230C:p.K744Q;NEDD4L:NM_001144968:exon28:c.A2629C:p.K877Q;NEDD4L:NM_001144970:exon26:c.A2230C:p.K744Q;NEDD4L:NM_001144965:exon28:c.A2290C:p.K764Q;NEDD4L:NM_001144966:exon27:c.A2290C:p.K764Q;NEDD4L:NM_001243960:exon26:c.A2461C:p.K821Q;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.A1645C:p.K549Q;ENSG00000049759:ENST00000435432:exon28:c.A2230C:p.K744Q;ENSG00000049759:ENST00000382850:exon27:c.A2593C:p.K865Q;ENSG00000049759:ENST00000456986:exon28:c.A2290C:p.K764Q;ENSG00000049759:ENST00000256830:exon25:c.A2341C:p.K781Q;ENSG00000049759:ENST00000456173:exon26:c.A2230C:p.K744Q;ENSG00000049759:ENST00000357895:exon28:c.A2629C:p.K877Q;ENSG00000049759:ENST00000256832:exon28:c.A2233C:p.K745Q;ENSG00000049759:ENST00000431212:exon27:c.A2290C:p.K764Q;ENSG00000049759:ENST00000356462:exon26:c.A2461C:p.K821Q;ENSG00000049759:ENST00000400345:exon28:c.A2653C:p.K885Q;ENSG00000049759:ENST00000586263:exon27:c.A2569C:p.K857Q;	0.62082317492677	0.686
18	56056422	A	G	18	58389190	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.A2569G:p.K857E;NEDD4L:NM_001144964:exon28:c.A2290G:p.K764E;NEDD4L:NM_015277:exon27:c.A2593G:p.K865E;NEDD4L:NM_001144967:exon28:c.A2653G:p.K885E;NEDD4L:NM_001144971:exon28:c.A2230G:p.K744E;NEDD4L:NM_001144968:exon28:c.A2629G:p.K877E;NEDD4L:NM_001144970:exon26:c.A2230G:p.K744E;NEDD4L:NM_001144965:exon28:c.A2290G:p.K764E;NEDD4L:NM_001144966:exon27:c.A2290G:p.K764E;NEDD4L:NM_001243960:exon26:c.A2461G:p.K821E;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.A1645G:p.K549E;ENSG00000049759:ENST00000435432:exon28:c.A2230G:p.K744E;ENSG00000049759:ENST00000382850:exon27:c.A2593G:p.K865E;ENSG00000049759:ENST00000456986:exon28:c.A2290G:p.K764E;ENSG00000049759:ENST00000256830:exon25:c.A2341G:p.K781E;ENSG00000049759:ENST00000456173:exon26:c.A2230G:p.K744E;ENSG00000049759:ENST00000357895:exon28:c.A2629G:p.K877E;ENSG00000049759:ENST00000256832:exon28:c.A2233G:p.K745E;ENSG00000049759:ENST00000431212:exon27:c.A2290G:p.K764E;ENSG00000049759:ENST00000356462:exon26:c.A2461G:p.K821E;ENSG00000049759:ENST00000400345:exon28:c.A2653G:p.K885E;ENSG00000049759:ENST00000586263:exon27:c.A2569G:p.K857E;	0.321460267471437	0.542
18	56056422	A	T	18	58389190	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon27:c.A2569T:p.K857X;NEDD4L:NM_001144964:exon28:c.A2290T:p.K764X;NEDD4L:NM_015277:exon27:c.A2593T:p.K865X;NEDD4L:NM_001144967:exon28:c.A2653T:p.K885X;NEDD4L:NM_001144971:exon28:c.A2230T:p.K744X;NEDD4L:NM_001144968:exon28:c.A2629T:p.K877X;NEDD4L:NM_001144970:exon26:c.A2230T:p.K744X;NEDD4L:NM_001144965:exon28:c.A2290T:p.K764X;NEDD4L:NM_001144966:exon27:c.A2290T:p.K764X;NEDD4L:NM_001243960:exon26:c.A2461T:p.K821X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon17:c.A1645T:p.K549X;ENSG00000049759:ENST00000435432:exon28:c.A2230T:p.K744X;ENSG00000049759:ENST00000382850:exon27:c.A2593T:p.K865X;ENSG00000049759:ENST00000456986:exon28:c.A2290T:p.K764X;ENSG00000049759:ENST00000256830:exon25:c.A2341T:p.K781X;ENSG00000049759:ENST00000456173:exon26:c.A2230T:p.K744X;ENSG00000049759:ENST00000357895:exon28:c.A2629T:p.K877X;ENSG00000049759:ENST00000256832:exon28:c.A2233T:p.K745X;ENSG00000049759:ENST00000431212:exon27:c.A2290T:p.K764X;ENSG00000049759:ENST00000356462:exon26:c.A2461T:p.K821X;ENSG00000049759:ENST00000400345:exon28:c.A2653T:p.K885X;ENSG00000049759:ENST00000586263:exon27:c.A2569T:p.K857X;	0.9973958634793	0.76
18	56056423	A	C	18	58389191	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.A2570C:p.K857T;NEDD4L:NM_001144964:exon28:c.A2291C:p.K764T;NEDD4L:NM_015277:exon27:c.A2594C:p.K865T;NEDD4L:NM_001144967:exon28:c.A2654C:p.K885T;NEDD4L:NM_001144971:exon28:c.A2231C:p.K744T;NEDD4L:NM_001144968:exon28:c.A2630C:p.K877T;NEDD4L:NM_001144970:exon26:c.A2231C:p.K744T;NEDD4L:NM_001144965:exon28:c.A2291C:p.K764T;NEDD4L:NM_001144966:exon27:c.A2291C:p.K764T;NEDD4L:NM_001243960:exon26:c.A2462C:p.K821T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.A1646C:p.K549T;ENSG00000049759:ENST00000435432:exon28:c.A2231C:p.K744T;ENSG00000049759:ENST00000382850:exon27:c.A2594C:p.K865T;ENSG00000049759:ENST00000456986:exon28:c.A2291C:p.K764T;ENSG00000049759:ENST00000256830:exon25:c.A2342C:p.K781T;ENSG00000049759:ENST00000456173:exon26:c.A2231C:p.K744T;ENSG00000049759:ENST00000357895:exon28:c.A2630C:p.K877T;ENSG00000049759:ENST00000256832:exon28:c.A2234C:p.K745T;ENSG00000049759:ENST00000431212:exon27:c.A2291C:p.K764T;ENSG00000049759:ENST00000356462:exon26:c.A2462C:p.K821T;ENSG00000049759:ENST00000400345:exon28:c.A2654C:p.K885T;ENSG00000049759:ENST00000586263:exon27:c.A2570C:p.K857T;	0.995459927348482	0.87
18	56056423	A	G	18	58389191	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.A2570G:p.K857R;NEDD4L:NM_001144964:exon28:c.A2291G:p.K764R;NEDD4L:NM_015277:exon27:c.A2594G:p.K865R;NEDD4L:NM_001144967:exon28:c.A2654G:p.K885R;NEDD4L:NM_001144971:exon28:c.A2231G:p.K744R;NEDD4L:NM_001144968:exon28:c.A2630G:p.K877R;NEDD4L:NM_001144970:exon26:c.A2231G:p.K744R;NEDD4L:NM_001144965:exon28:c.A2291G:p.K764R;NEDD4L:NM_001144966:exon27:c.A2291G:p.K764R;NEDD4L:NM_001243960:exon26:c.A2462G:p.K821R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.A1646G:p.K549R;ENSG00000049759:ENST00000435432:exon28:c.A2231G:p.K744R;ENSG00000049759:ENST00000382850:exon27:c.A2594G:p.K865R;ENSG00000049759:ENST00000456986:exon28:c.A2291G:p.K764R;ENSG00000049759:ENST00000256830:exon25:c.A2342G:p.K781R;ENSG00000049759:ENST00000456173:exon26:c.A2231G:p.K744R;ENSG00000049759:ENST00000357895:exon28:c.A2630G:p.K877R;ENSG00000049759:ENST00000256832:exon28:c.A2234G:p.K745R;ENSG00000049759:ENST00000431212:exon27:c.A2291G:p.K764R;ENSG00000049759:ENST00000356462:exon26:c.A2462G:p.K821R;ENSG00000049759:ENST00000400345:exon28:c.A2654G:p.K885R;ENSG00000049759:ENST00000586263:exon27:c.A2570G:p.K857R;	0.99890459678681	0.966
18	56056423	A	T	18	58389191	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.A2570T:p.K857M;NEDD4L:NM_001144964:exon28:c.A2291T:p.K764M;NEDD4L:NM_015277:exon27:c.A2594T:p.K865M;NEDD4L:NM_001144967:exon28:c.A2654T:p.K885M;NEDD4L:NM_001144971:exon28:c.A2231T:p.K744M;NEDD4L:NM_001144968:exon28:c.A2630T:p.K877M;NEDD4L:NM_001144970:exon26:c.A2231T:p.K744M;NEDD4L:NM_001144965:exon28:c.A2291T:p.K764M;NEDD4L:NM_001144966:exon27:c.A2291T:p.K764M;NEDD4L:NM_001243960:exon26:c.A2462T:p.K821M;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.A1646T:p.K549M;ENSG00000049759:ENST00000435432:exon28:c.A2231T:p.K744M;ENSG00000049759:ENST00000382850:exon27:c.A2594T:p.K865M;ENSG00000049759:ENST00000456986:exon28:c.A2291T:p.K764M;ENSG00000049759:ENST00000256830:exon25:c.A2342T:p.K781M;ENSG00000049759:ENST00000456173:exon26:c.A2231T:p.K744M;ENSG00000049759:ENST00000357895:exon28:c.A2630T:p.K877M;ENSG00000049759:ENST00000256832:exon28:c.A2234T:p.K745M;ENSG00000049759:ENST00000431212:exon27:c.A2291T:p.K764M;ENSG00000049759:ENST00000356462:exon26:c.A2462T:p.K821M;ENSG00000049759:ENST00000400345:exon28:c.A2654T:p.K885M;ENSG00000049759:ENST00000586263:exon27:c.A2570T:p.K857M;	0.999841902957761	0.994
18	56056424	G	A	18	58389192	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon27:c.G2571A:p.K857K;NEDD4L:NM_001144964:exon28:c.G2292A:p.K764K;NEDD4L:NM_015277:exon27:c.G2595A:p.K865K;NEDD4L:NM_001144967:exon28:c.G2655A:p.K885K;NEDD4L:NM_001144971:exon28:c.G2232A:p.K744K;NEDD4L:NM_001144968:exon28:c.G2631A:p.K877K;NEDD4L:NM_001144970:exon26:c.G2232A:p.K744K;NEDD4L:NM_001144965:exon28:c.G2292A:p.K764K;NEDD4L:NM_001144966:exon27:c.G2292A:p.K764K;NEDD4L:NM_001243960:exon26:c.G2463A:p.K821K;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.G1647A:p.K549K;ENSG00000049759:ENST00000435432:exon28:c.G2232A:p.K744K;ENSG00000049759:ENST00000382850:exon27:c.G2595A:p.K865K;ENSG00000049759:ENST00000456986:exon28:c.G2292A:p.K764K;ENSG00000049759:ENST00000256830:exon25:c.G2343A:p.K781K;ENSG00000049759:ENST00000456173:exon26:c.G2232A:p.K744K;ENSG00000049759:ENST00000357895:exon28:c.G2631A:p.K877K;ENSG00000049759:ENST00000256832:exon28:c.G2235A:p.K745K;ENSG00000049759:ENST00000431212:exon27:c.G2292A:p.K764K;ENSG00000049759:ENST00000356462:exon26:c.G2463A:p.K821K;ENSG00000049759:ENST00000400345:exon28:c.G2655A:p.K885K;ENSG00000049759:ENST00000586263:exon27:c.G2571A:p.K857K;	0.999935419427633	0.994
18	56056424	G	C	18	58389192	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.G2571C:p.K857N;NEDD4L:NM_001144964:exon28:c.G2292C:p.K764N;NEDD4L:NM_015277:exon27:c.G2595C:p.K865N;NEDD4L:NM_001144967:exon28:c.G2655C:p.K885N;NEDD4L:NM_001144971:exon28:c.G2232C:p.K744N;NEDD4L:NM_001144968:exon28:c.G2631C:p.K877N;NEDD4L:NM_001144970:exon26:c.G2232C:p.K744N;NEDD4L:NM_001144965:exon28:c.G2292C:p.K764N;NEDD4L:NM_001144966:exon27:c.G2292C:p.K764N;NEDD4L:NM_001243960:exon26:c.G2463C:p.K821N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.G1647C:p.K549N;ENSG00000049759:ENST00000435432:exon28:c.G2232C:p.K744N;ENSG00000049759:ENST00000382850:exon27:c.G2595C:p.K865N;ENSG00000049759:ENST00000456986:exon28:c.G2292C:p.K764N;ENSG00000049759:ENST00000256830:exon25:c.G2343C:p.K781N;ENSG00000049759:ENST00000456173:exon26:c.G2232C:p.K744N;ENSG00000049759:ENST00000357895:exon28:c.G2631C:p.K877N;ENSG00000049759:ENST00000256832:exon28:c.G2235C:p.K745N;ENSG00000049759:ENST00000431212:exon27:c.G2292C:p.K764N;ENSG00000049759:ENST00000356462:exon26:c.G2463C:p.K821N;ENSG00000049759:ENST00000400345:exon28:c.G2655C:p.K885N;ENSG00000049759:ENST00000586263:exon27:c.G2571C:p.K857N;	0.999987708758243	0.978
18	56056424	G	T	18	58389192	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon27:c.G2571T:p.K857N;NEDD4L:NM_001144964:exon28:c.G2292T:p.K764N;NEDD4L:NM_015277:exon27:c.G2595T:p.K865N;NEDD4L:NM_001144967:exon28:c.G2655T:p.K885N;NEDD4L:NM_001144971:exon28:c.G2232T:p.K744N;NEDD4L:NM_001144968:exon28:c.G2631T:p.K877N;NEDD4L:NM_001144970:exon26:c.G2232T:p.K744N;NEDD4L:NM_001144965:exon28:c.G2292T:p.K764N;NEDD4L:NM_001144966:exon27:c.G2292T:p.K764N;NEDD4L:NM_001243960:exon26:c.G2463T:p.K821N;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon17:c.G1647T:p.K549N;ENSG00000049759:ENST00000435432:exon28:c.G2232T:p.K744N;ENSG00000049759:ENST00000382850:exon27:c.G2595T:p.K865N;ENSG00000049759:ENST00000456986:exon28:c.G2292T:p.K764N;ENSG00000049759:ENST00000256830:exon25:c.G2343T:p.K781N;ENSG00000049759:ENST00000456173:exon26:c.G2232T:p.K744N;ENSG00000049759:ENST00000357895:exon28:c.G2631T:p.K877N;ENSG00000049759:ENST00000256832:exon28:c.G2235T:p.K745N;ENSG00000049759:ENST00000431212:exon27:c.G2292T:p.K764N;ENSG00000049759:ENST00000356462:exon26:c.G2463T:p.K821N;ENSG00000049759:ENST00000400345:exon28:c.G2655T:p.K885N;ENSG00000049759:ENST00000586263:exon27:c.G2571T:p.K857N;	0.999887970453737	0.96
18	56056425	G	A	18	58389193	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2655+1G>A;NM_001243960:exon26:c.2463+1G>A;NM_015277:exon27:c.2595+1G>A;NM_001144964:exon28:c.2292+1G>A;NM_001144968:exon28:c.2631+1G>A;NM_001144965:exon28:c.2292+1G>A;NM_001144971:exon28:c.2232+1G>A;NM_001144969:exon27:c.2571+1G>A;NM_001144970:exon26:c.2232+1G>A;NM_001144966:exon27:c.2292+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2463+1G>A;ENST00000400345:exon28:c.2655+1G>A;ENST00000256832:exon28:c.2235+1G>A;ENST00000382850:exon27:c.2595+1G>A;ENST00000256830:exon25:c.2343+1G>A;ENST00000456986:exon28:c.2292+1G>A;ENST00000357895:exon28:c.2631+1G>A;ENST00000435432:exon28:c.2232+1G>A;ENST00000586263:exon27:c.2571+1G>A;ENST00000456173:exon26:c.2232+1G>A;ENST00000431212:exon27:c.2292+1G>A;ENST00000587881:exon17:c.1647+1G>A)	.	.	0.999990361384395	0.938
18	56056425	G	C	18	58389193	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2655+1G>C;NM_001243960:exon26:c.2463+1G>C;NM_015277:exon27:c.2595+1G>C;NM_001144964:exon28:c.2292+1G>C;NM_001144968:exon28:c.2631+1G>C;NM_001144965:exon28:c.2292+1G>C;NM_001144971:exon28:c.2232+1G>C;NM_001144969:exon27:c.2571+1G>C;NM_001144970:exon26:c.2232+1G>C;NM_001144966:exon27:c.2292+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2463+1G>C;ENST00000400345:exon28:c.2655+1G>C;ENST00000256832:exon28:c.2235+1G>C;ENST00000382850:exon27:c.2595+1G>C;ENST00000256830:exon25:c.2343+1G>C;ENST00000456986:exon28:c.2292+1G>C;ENST00000357895:exon28:c.2631+1G>C;ENST00000435432:exon28:c.2232+1G>C;ENST00000586263:exon27:c.2571+1G>C;ENST00000456173:exon26:c.2232+1G>C;ENST00000431212:exon27:c.2292+1G>C;ENST00000587881:exon17:c.1647+1G>C)	.	.	0.999990361384395	0.938
18	56056425	G	T	18	58389193	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2655+1G>T;NM_001243960:exon26:c.2463+1G>T;NM_015277:exon27:c.2595+1G>T;NM_001144964:exon28:c.2292+1G>T;NM_001144968:exon28:c.2631+1G>T;NM_001144965:exon28:c.2292+1G>T;NM_001144971:exon28:c.2232+1G>T;NM_001144969:exon27:c.2571+1G>T;NM_001144970:exon26:c.2232+1G>T;NM_001144966:exon27:c.2292+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2463+1G>T;ENST00000400345:exon28:c.2655+1G>T;ENST00000256832:exon28:c.2235+1G>T;ENST00000382850:exon27:c.2595+1G>T;ENST00000256830:exon25:c.2343+1G>T;ENST00000456986:exon28:c.2292+1G>T;ENST00000357895:exon28:c.2631+1G>T;ENST00000435432:exon28:c.2232+1G>T;ENST00000586263:exon27:c.2571+1G>T;ENST00000456173:exon26:c.2232+1G>T;ENST00000431212:exon27:c.2292+1G>T;ENST00000587881:exon17:c.1647+1G>T)	.	.	0.999990361384395	0.938
18	56056426	T	A	18	58389194	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2655+2T>A;NM_001243960:exon26:c.2463+2T>A;NM_015277:exon27:c.2595+2T>A;NM_001144964:exon28:c.2292+2T>A;NM_001144968:exon28:c.2631+2T>A;NM_001144965:exon28:c.2292+2T>A;NM_001144971:exon28:c.2232+2T>A;NM_001144969:exon27:c.2571+2T>A;NM_001144970:exon26:c.2232+2T>A;NM_001144966:exon27:c.2292+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2463+2T>A;ENST00000400345:exon28:c.2655+2T>A;ENST00000256832:exon28:c.2235+2T>A;ENST00000382850:exon27:c.2595+2T>A;ENST00000256830:exon25:c.2343+2T>A;ENST00000456986:exon28:c.2292+2T>A;ENST00000357895:exon28:c.2631+2T>A;ENST00000435432:exon28:c.2232+2T>A;ENST00000586263:exon27:c.2571+2T>A;ENST00000456173:exon26:c.2232+2T>A;ENST00000431212:exon27:c.2292+2T>A;ENST00000587881:exon17:c.1647+2T>A)	.	.	0.999988247793601	0.93
18	56056426	T	C	18	58389194	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2655+2T>C;NM_001243960:exon26:c.2463+2T>C;NM_015277:exon27:c.2595+2T>C;NM_001144964:exon28:c.2292+2T>C;NM_001144968:exon28:c.2631+2T>C;NM_001144965:exon28:c.2292+2T>C;NM_001144971:exon28:c.2232+2T>C;NM_001144969:exon27:c.2571+2T>C;NM_001144970:exon26:c.2232+2T>C;NM_001144966:exon27:c.2292+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2463+2T>C;ENST00000400345:exon28:c.2655+2T>C;ENST00000256832:exon28:c.2235+2T>C;ENST00000382850:exon27:c.2595+2T>C;ENST00000256830:exon25:c.2343+2T>C;ENST00000456986:exon28:c.2292+2T>C;ENST00000357895:exon28:c.2631+2T>C;ENST00000435432:exon28:c.2232+2T>C;ENST00000586263:exon27:c.2571+2T>C;ENST00000456173:exon26:c.2232+2T>C;ENST00000431212:exon27:c.2292+2T>C;ENST00000587881:exon17:c.1647+2T>C)	.	.	0.992783534660112	0.682
18	56056426	T	G	18	58389194	y	y	splicing	NEDD4L(NM_001144967:exon28:c.2655+2T>G;NM_001243960:exon26:c.2463+2T>G;NM_015277:exon27:c.2595+2T>G;NM_001144964:exon28:c.2292+2T>G;NM_001144968:exon28:c.2631+2T>G;NM_001144965:exon28:c.2292+2T>G;NM_001144971:exon28:c.2232+2T>G;NM_001144969:exon27:c.2571+2T>G;NM_001144970:exon26:c.2232+2T>G;NM_001144966:exon27:c.2292+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon26:c.2463+2T>G;ENST00000400345:exon28:c.2655+2T>G;ENST00000256832:exon28:c.2235+2T>G;ENST00000382850:exon27:c.2595+2T>G;ENST00000256830:exon25:c.2343+2T>G;ENST00000456986:exon28:c.2292+2T>G;ENST00000357895:exon28:c.2631+2T>G;ENST00000435432:exon28:c.2232+2T>G;ENST00000586263:exon27:c.2571+2T>G;ENST00000456173:exon26:c.2232+2T>G;ENST00000431212:exon27:c.2292+2T>G;ENST00000587881:exon17:c.1647+2T>G)	.	.	0.999988247793601	0.93
18	56056427	A	C	18	58389195	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996800018037287	0.792
18	56056427	A	G	18	58389195	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.263240313953033	0.512
18	56056427	A	T	18	58389195	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999626805888893	0.82
18	56056428	A	C	18	58389196	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.203196364094666	0.422
18	56056428	A	G	18	58389196	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.194434642131188	0.41
18	56056428	A	T	18	58389196	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.214568023611165	0.384
18	56056429	C	A	18	58389197	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.16496372417939E-5	0.014
18	56056429	C	G	18	58389197	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.93573980193755E-4	0.094
18	56056429	C	T	18	58389197	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.18366501310958E-5	0.004
18	56056430	T	A	18	58389198	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00587342280514499	0.184
18	56056430	T	C	18	58389198	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00970079630603026	0.29
18	56056430	T	G	18	58389198	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00177580441692256	0.222
18	56056431	C	A	18	58389199	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.60006762603487E-5	0.0
18	56056431	C	G	18	58389199	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.59011037044429E-4	0.008
18	56056431	C	T	18	58389199	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.74889707489042E-4	0.074
18	56056432	C	A	18	58389200	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.66788996267205E-5	0.0
18	56056432	C	G	18	58389200	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.09691172686821E-5	0.0
18	56056432	C	T	18	58389200	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.13112150974811E-4	0.0
18	56057866	C	A	18	58390634	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0266321023552052	0.232
18	56057866	C	G	18	58390634	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00498029743124871	0.146
18	56057866	C	T	18	58390634	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.022852931525322	0.308
18	56057867	T	A	18	58390635	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.616045590973404	0.594
18	56057867	T	C	18	58390635	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.020885435880836	0.232
18	56057867	T	G	18	58390635	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.451220840223955	0.5
18	56057868	C	A	18	58390636	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.142338114161645	0.352
18	56057868	C	G	18	58390636	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0913153062829399	0.266
18	56057868	C	T	18	58390636	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.106432021762101	0.456
18	56057869	T	A	18	58390637	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999927831888727	0.862
18	56057869	T	C	18	58390637	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.07033091657108E-6	0.03
18	56057869	T	G	18	58390637	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.279060820033006	0.46
18	56057870	G	A	18	58390638	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.62627700965903E-4	0.022
18	56057870	G	C	18	58390638	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.11179947163544E-5	0.008
18	56057870	G	T	18	58390638	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.90477260598712E-5	0.0
18	56057871	T	A	18	58390639	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.280064657900695	0.41
18	56057871	T	C	18	58390639	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.65665793753466E-4	0.024
18	56057871	T	G	18	58390639	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.350980743253857	0.31
18	56057872	T	A	18	58390640	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0942938203105223	0.398
18	56057872	T	C	18	58390640	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.80656267351658E-5	0.028
18	56057872	T	G	18	58390640	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0639927724499467	0.458
18	56057873	C	A	18	58390641	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00262837959260736	0.086
18	56057873	C	G	18	58390641	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0110441358781531	0.098
18	56057873	C	T	18	58390641	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.06721617739734E-4	0.004
18	56057874	A	C	18	58390642	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.4627440189314E-5	0.028
18	56057874	A	G	18	58390642	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.13147110848386E-5	0.018
18	56057874	A	T	18	58390642	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.36560158271971E-5	0.016
18	56057875	T	A	18	58390643	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00167252832470151	0.184
18	56057875	T	C	18	58390643	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.34470484793897E-5	0.002
18	56057875	T	G	18	58390643	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.66369319264147	0.678
18	56057876	A	C	18	58390644	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2656-2A>C;NM_001243960:exon27:c.2464-2A>C;NM_015277:exon28:c.2596-2A>C;NM_001144964:exon29:c.2293-2A>C;NM_001144968:exon29:c.2632-2A>C;NM_001144965:exon29:c.2293-2A>C;NM_001144971:exon29:c.2233-2A>C;NM_001144969:exon28:c.2572-2A>C;NM_001144970:exon27:c.2233-2A>C;NM_001144966:exon28:c.2293-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2464-2A>C;ENST00000400345:exon29:c.2656-2A>C;ENST00000589054:exon2:c.49-2A>C;ENST00000256832:exon29:c.2236-2A>C;ENST00000382850:exon28:c.2596-2A>C;ENST00000256830:exon26:c.2344-2A>C;ENST00000456986:exon29:c.2293-2A>C;ENST00000357895:exon29:c.2632-2A>C;ENST00000435432:exon29:c.2233-2A>C;ENST00000586263:exon28:c.2572-2A>C;ENST00000456173:exon27:c.2233-2A>C;ENST00000431212:exon28:c.2293-2A>C;ENST00000587881:exon18:c.1648-2A>C)	.	.	0.999988247793601	0.928
18	56057876	A	G	18	58390644	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2656-2A>G;NM_001243960:exon27:c.2464-2A>G;NM_015277:exon28:c.2596-2A>G;NM_001144964:exon29:c.2293-2A>G;NM_001144968:exon29:c.2632-2A>G;NM_001144965:exon29:c.2293-2A>G;NM_001144971:exon29:c.2233-2A>G;NM_001144969:exon28:c.2572-2A>G;NM_001144970:exon27:c.2233-2A>G;NM_001144966:exon28:c.2293-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2464-2A>G;ENST00000400345:exon29:c.2656-2A>G;ENST00000589054:exon2:c.49-2A>G;ENST00000256832:exon29:c.2236-2A>G;ENST00000382850:exon28:c.2596-2A>G;ENST00000256830:exon26:c.2344-2A>G;ENST00000456986:exon29:c.2293-2A>G;ENST00000357895:exon29:c.2632-2A>G;ENST00000435432:exon29:c.2233-2A>G;ENST00000586263:exon28:c.2572-2A>G;ENST00000456173:exon27:c.2233-2A>G;ENST00000431212:exon28:c.2293-2A>G;ENST00000587881:exon18:c.1648-2A>G)	.	.	0.999988247793601	0.928
18	56057876	A	T	18	58390644	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2656-2A>T;NM_001243960:exon27:c.2464-2A>T;NM_015277:exon28:c.2596-2A>T;NM_001144964:exon29:c.2293-2A>T;NM_001144968:exon29:c.2632-2A>T;NM_001144965:exon29:c.2293-2A>T;NM_001144971:exon29:c.2233-2A>T;NM_001144969:exon28:c.2572-2A>T;NM_001144970:exon27:c.2233-2A>T;NM_001144966:exon28:c.2293-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2464-2A>T;ENST00000400345:exon29:c.2656-2A>T;ENST00000589054:exon2:c.49-2A>T;ENST00000256832:exon29:c.2236-2A>T;ENST00000382850:exon28:c.2596-2A>T;ENST00000256830:exon26:c.2344-2A>T;ENST00000456986:exon29:c.2293-2A>T;ENST00000357895:exon29:c.2632-2A>T;ENST00000435432:exon29:c.2233-2A>T;ENST00000586263:exon28:c.2572-2A>T;ENST00000456173:exon27:c.2233-2A>T;ENST00000431212:exon28:c.2293-2A>T;ENST00000587881:exon18:c.1648-2A>T)	.	.	0.999988247793601	0.928
18	56057877	G	A	18	58390645	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2656-1G>A;NM_001243960:exon27:c.2464-1G>A;NM_015277:exon28:c.2596-1G>A;NM_001144964:exon29:c.2293-1G>A;NM_001144968:exon29:c.2632-1G>A;NM_001144965:exon29:c.2293-1G>A;NM_001144971:exon29:c.2233-1G>A;NM_001144969:exon28:c.2572-1G>A;NM_001144970:exon27:c.2233-1G>A;NM_001144966:exon28:c.2293-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2464-1G>A;ENST00000400345:exon29:c.2656-1G>A;ENST00000589054:exon2:c.49-1G>A;ENST00000256832:exon29:c.2236-1G>A;ENST00000382850:exon28:c.2596-1G>A;ENST00000256830:exon26:c.2344-1G>A;ENST00000456986:exon29:c.2293-1G>A;ENST00000357895:exon29:c.2632-1G>A;ENST00000435432:exon29:c.2233-1G>A;ENST00000586263:exon28:c.2572-1G>A;ENST00000456173:exon27:c.2233-1G>A;ENST00000431212:exon28:c.2293-1G>A;ENST00000587881:exon18:c.1648-1G>A)	.	.	0.999985532734767	0.936
18	56057877	G	C	18	58390645	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2656-1G>C;NM_001243960:exon27:c.2464-1G>C;NM_015277:exon28:c.2596-1G>C;NM_001144964:exon29:c.2293-1G>C;NM_001144968:exon29:c.2632-1G>C;NM_001144965:exon29:c.2293-1G>C;NM_001144971:exon29:c.2233-1G>C;NM_001144969:exon28:c.2572-1G>C;NM_001144970:exon27:c.2233-1G>C;NM_001144966:exon28:c.2293-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2464-1G>C;ENST00000400345:exon29:c.2656-1G>C;ENST00000589054:exon2:c.49-1G>C;ENST00000256832:exon29:c.2236-1G>C;ENST00000382850:exon28:c.2596-1G>C;ENST00000256830:exon26:c.2344-1G>C;ENST00000456986:exon29:c.2293-1G>C;ENST00000357895:exon29:c.2632-1G>C;ENST00000435432:exon29:c.2233-1G>C;ENST00000586263:exon28:c.2572-1G>C;ENST00000456173:exon27:c.2233-1G>C;ENST00000431212:exon28:c.2293-1G>C;ENST00000587881:exon18:c.1648-1G>C)	.	.	0.999985532734767	0.936
18	56057877	G	T	18	58390645	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2656-1G>T;NM_001243960:exon27:c.2464-1G>T;NM_015277:exon28:c.2596-1G>T;NM_001144964:exon29:c.2293-1G>T;NM_001144968:exon29:c.2632-1G>T;NM_001144965:exon29:c.2293-1G>T;NM_001144971:exon29:c.2233-1G>T;NM_001144969:exon28:c.2572-1G>T;NM_001144970:exon27:c.2233-1G>T;NM_001144966:exon28:c.2293-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2464-1G>T;ENST00000400345:exon29:c.2656-1G>T;ENST00000589054:exon2:c.49-1G>T;ENST00000256832:exon29:c.2236-1G>T;ENST00000382850:exon28:c.2596-1G>T;ENST00000256830:exon26:c.2344-1G>T;ENST00000456986:exon29:c.2293-1G>T;ENST00000357895:exon29:c.2632-1G>T;ENST00000435432:exon29:c.2233-1G>T;ENST00000586263:exon28:c.2572-1G>T;ENST00000456173:exon27:c.2233-1G>T;ENST00000431212:exon28:c.2293-1G>T;ENST00000587881:exon18:c.1648-1G>T)	.	.	0.999985532734767	0.936
18	56057878	G	A	18	58390646	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.G2572A:p.A858T;NEDD4L:NM_001144964:exon29:c.G2293A:p.A765T;NEDD4L:NM_015277:exon28:c.G2596A:p.A866T;NEDD4L:NM_001144967:exon29:c.G2656A:p.A886T;NEDD4L:NM_001144971:exon29:c.G2233A:p.A745T;NEDD4L:NM_001144968:exon29:c.G2632A:p.A878T;NEDD4L:NM_001144970:exon27:c.G2233A:p.A745T;NEDD4L:NM_001144965:exon29:c.G2293A:p.A765T;NEDD4L:NM_001144966:exon28:c.G2293A:p.A765T;NEDD4L:NM_001243960:exon27:c.G2464A:p.A822T;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.G1648A:p.A550T;ENSG00000049759:ENST00000435432:exon29:c.G2233A:p.A745T;ENSG00000049759:ENST00000382850:exon28:c.G2596A:p.A866T;ENSG00000049759:ENST00000456986:exon29:c.G2293A:p.A765T;ENSG00000049759:ENST00000256830:exon26:c.G2344A:p.A782T;ENSG00000049759:ENST00000456173:exon27:c.G2233A:p.A745T;ENSG00000049759:ENST00000357895:exon29:c.G2632A:p.A878T;ENSG00000049759:ENST00000256832:exon29:c.G2236A:p.A746T;ENSG00000049759:ENST00000431212:exon28:c.G2293A:p.A765T;ENSG00000049759:ENST00000356462:exon27:c.G2464A:p.A822T;ENSG00000049759:ENST00000400345:exon29:c.G2656A:p.A886T;ENSG00000049759:ENST00000589054:exon2:c.G49A:p.A17T;ENSG00000049759:ENST00000586263:exon28:c.G2572A:p.A858T;	0.998753560397094	0.88
18	56057878	G	C	18	58390646	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.G2572C:p.A858P;NEDD4L:NM_001144964:exon29:c.G2293C:p.A765P;NEDD4L:NM_015277:exon28:c.G2596C:p.A866P;NEDD4L:NM_001144967:exon29:c.G2656C:p.A886P;NEDD4L:NM_001144971:exon29:c.G2233C:p.A745P;NEDD4L:NM_001144968:exon29:c.G2632C:p.A878P;NEDD4L:NM_001144970:exon27:c.G2233C:p.A745P;NEDD4L:NM_001144965:exon29:c.G2293C:p.A765P;NEDD4L:NM_001144966:exon28:c.G2293C:p.A765P;NEDD4L:NM_001243960:exon27:c.G2464C:p.A822P;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.G1648C:p.A550P;ENSG00000049759:ENST00000435432:exon29:c.G2233C:p.A745P;ENSG00000049759:ENST00000382850:exon28:c.G2596C:p.A866P;ENSG00000049759:ENST00000456986:exon29:c.G2293C:p.A765P;ENSG00000049759:ENST00000256830:exon26:c.G2344C:p.A782P;ENSG00000049759:ENST00000456173:exon27:c.G2233C:p.A745P;ENSG00000049759:ENST00000357895:exon29:c.G2632C:p.A878P;ENSG00000049759:ENST00000256832:exon29:c.G2236C:p.A746P;ENSG00000049759:ENST00000431212:exon28:c.G2293C:p.A765P;ENSG00000049759:ENST00000356462:exon27:c.G2464C:p.A822P;ENSG00000049759:ENST00000400345:exon29:c.G2656C:p.A886P;ENSG00000049759:ENST00000589054:exon2:c.G49C:p.A17P;ENSG00000049759:ENST00000586263:exon28:c.G2572C:p.A858P;	0.999588140188262	0.958
18	56057878	G	T	18	58390646	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.G2572T:p.A858S;NEDD4L:NM_001144964:exon29:c.G2293T:p.A765S;NEDD4L:NM_015277:exon28:c.G2596T:p.A866S;NEDD4L:NM_001144967:exon29:c.G2656T:p.A886S;NEDD4L:NM_001144971:exon29:c.G2233T:p.A745S;NEDD4L:NM_001144968:exon29:c.G2632T:p.A878S;NEDD4L:NM_001144970:exon27:c.G2233T:p.A745S;NEDD4L:NM_001144965:exon29:c.G2293T:p.A765S;NEDD4L:NM_001144966:exon28:c.G2293T:p.A765S;NEDD4L:NM_001243960:exon27:c.G2464T:p.A822S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.G1648T:p.A550S;ENSG00000049759:ENST00000435432:exon29:c.G2233T:p.A745S;ENSG00000049759:ENST00000382850:exon28:c.G2596T:p.A866S;ENSG00000049759:ENST00000456986:exon29:c.G2293T:p.A765S;ENSG00000049759:ENST00000256830:exon26:c.G2344T:p.A782S;ENSG00000049759:ENST00000456173:exon27:c.G2233T:p.A745S;ENSG00000049759:ENST00000357895:exon29:c.G2632T:p.A878S;ENSG00000049759:ENST00000256832:exon29:c.G2236T:p.A746S;ENSG00000049759:ENST00000431212:exon28:c.G2293T:p.A765S;ENSG00000049759:ENST00000356462:exon27:c.G2464T:p.A822S;ENSG00000049759:ENST00000400345:exon29:c.G2656T:p.A886S;ENSG00000049759:ENST00000589054:exon2:c.G49T:p.A17S;ENSG00000049759:ENST00000586263:exon28:c.G2572T:p.A858S;	0.999647524545025	0.974
18	56057879	C	A	18	58390647	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.C2573A:p.A858D;NEDD4L:NM_001144964:exon29:c.C2294A:p.A765D;NEDD4L:NM_015277:exon28:c.C2597A:p.A866D;NEDD4L:NM_001144967:exon29:c.C2657A:p.A886D;NEDD4L:NM_001144971:exon29:c.C2234A:p.A745D;NEDD4L:NM_001144968:exon29:c.C2633A:p.A878D;NEDD4L:NM_001144970:exon27:c.C2234A:p.A745D;NEDD4L:NM_001144965:exon29:c.C2294A:p.A765D;NEDD4L:NM_001144966:exon28:c.C2294A:p.A765D;NEDD4L:NM_001243960:exon27:c.C2465A:p.A822D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.C1649A:p.A550D;ENSG00000049759:ENST00000435432:exon29:c.C2234A:p.A745D;ENSG00000049759:ENST00000382850:exon28:c.C2597A:p.A866D;ENSG00000049759:ENST00000456986:exon29:c.C2294A:p.A765D;ENSG00000049759:ENST00000256830:exon26:c.C2345A:p.A782D;ENSG00000049759:ENST00000456173:exon27:c.C2234A:p.A745D;ENSG00000049759:ENST00000357895:exon29:c.C2633A:p.A878D;ENSG00000049759:ENST00000256832:exon29:c.C2237A:p.A746D;ENSG00000049759:ENST00000431212:exon28:c.C2294A:p.A765D;ENSG00000049759:ENST00000356462:exon27:c.C2465A:p.A822D;ENSG00000049759:ENST00000400345:exon29:c.C2657A:p.A886D;ENSG00000049759:ENST00000589054:exon2:c.C50A:p.A17D;ENSG00000049759:ENST00000586263:exon28:c.C2573A:p.A858D;	0.98606775668982	0.854
18	56057879	C	G	18	58390647	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.C2573G:p.A858G;NEDD4L:NM_001144964:exon29:c.C2294G:p.A765G;NEDD4L:NM_015277:exon28:c.C2597G:p.A866G;NEDD4L:NM_001144967:exon29:c.C2657G:p.A886G;NEDD4L:NM_001144971:exon29:c.C2234G:p.A745G;NEDD4L:NM_001144968:exon29:c.C2633G:p.A878G;NEDD4L:NM_001144970:exon27:c.C2234G:p.A745G;NEDD4L:NM_001144965:exon29:c.C2294G:p.A765G;NEDD4L:NM_001144966:exon28:c.C2294G:p.A765G;NEDD4L:NM_001243960:exon27:c.C2465G:p.A822G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.C1649G:p.A550G;ENSG00000049759:ENST00000435432:exon29:c.C2234G:p.A745G;ENSG00000049759:ENST00000382850:exon28:c.C2597G:p.A866G;ENSG00000049759:ENST00000456986:exon29:c.C2294G:p.A765G;ENSG00000049759:ENST00000256830:exon26:c.C2345G:p.A782G;ENSG00000049759:ENST00000456173:exon27:c.C2234G:p.A745G;ENSG00000049759:ENST00000357895:exon29:c.C2633G:p.A878G;ENSG00000049759:ENST00000256832:exon29:c.C2237G:p.A746G;ENSG00000049759:ENST00000431212:exon28:c.C2294G:p.A765G;ENSG00000049759:ENST00000356462:exon27:c.C2465G:p.A822G;ENSG00000049759:ENST00000400345:exon29:c.C2657G:p.A886G;ENSG00000049759:ENST00000589054:exon2:c.C50G:p.A17G;ENSG00000049759:ENST00000586263:exon28:c.C2573G:p.A858G;	0.979564972527318	0.752
18	56057879	C	T	18	58390647	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.C2573T:p.A858V;NEDD4L:NM_001144964:exon29:c.C2294T:p.A765V;NEDD4L:NM_015277:exon28:c.C2597T:p.A866V;NEDD4L:NM_001144967:exon29:c.C2657T:p.A886V;NEDD4L:NM_001144971:exon29:c.C2234T:p.A745V;NEDD4L:NM_001144968:exon29:c.C2633T:p.A878V;NEDD4L:NM_001144970:exon27:c.C2234T:p.A745V;NEDD4L:NM_001144965:exon29:c.C2294T:p.A765V;NEDD4L:NM_001144966:exon28:c.C2294T:p.A765V;NEDD4L:NM_001243960:exon27:c.C2465T:p.A822V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.C1649T:p.A550V;ENSG00000049759:ENST00000435432:exon29:c.C2234T:p.A745V;ENSG00000049759:ENST00000382850:exon28:c.C2597T:p.A866V;ENSG00000049759:ENST00000456986:exon29:c.C2294T:p.A765V;ENSG00000049759:ENST00000256830:exon26:c.C2345T:p.A782V;ENSG00000049759:ENST00000456173:exon27:c.C2234T:p.A745V;ENSG00000049759:ENST00000357895:exon29:c.C2633T:p.A878V;ENSG00000049759:ENST00000256832:exon29:c.C2237T:p.A746V;ENSG00000049759:ENST00000431212:exon28:c.C2294T:p.A765V;ENSG00000049759:ENST00000356462:exon27:c.C2465T:p.A822V;ENSG00000049759:ENST00000400345:exon29:c.C2657T:p.A886V;ENSG00000049759:ENST00000589054:exon2:c.C50T:p.A17V;ENSG00000049759:ENST00000586263:exon28:c.C2573T:p.A858V;	0.978966132372237	0.808
18	56057972	A	C	18	58390740	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.A2666C:p.Y889S;NEDD4L:NM_001144964:exon29:c.A2387C:p.Y796S;NEDD4L:NM_015277:exon28:c.A2690C:p.Y897S;NEDD4L:NM_001144967:exon29:c.A2750C:p.Y917S;NEDD4L:NM_001144971:exon29:c.A2327C:p.Y776S;NEDD4L:NM_001144968:exon29:c.A2726C:p.Y909S;NEDD4L:NM_001144970:exon27:c.A2327C:p.Y776S;NEDD4L:NM_001144965:exon29:c.A2387C:p.Y796S;NEDD4L:NM_001144966:exon28:c.A2387C:p.Y796S;NEDD4L:NM_001243960:exon27:c.A2558C:p.Y853S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.A1742C:p.Y581S;ENSG00000049759:ENST00000435432:exon29:c.A2327C:p.Y776S;ENSG00000049759:ENST00000382850:exon28:c.A2690C:p.Y897S;ENSG00000049759:ENST00000456986:exon29:c.A2387C:p.Y796S;ENSG00000049759:ENST00000256830:exon26:c.A2438C:p.Y813S;ENSG00000049759:ENST00000456173:exon27:c.A2327C:p.Y776S;ENSG00000049759:ENST00000357895:exon29:c.A2726C:p.Y909S;ENSG00000049759:ENST00000256832:exon29:c.A2330C:p.Y777S;ENSG00000049759:ENST00000431212:exon28:c.A2387C:p.Y796S;ENSG00000049759:ENST00000356462:exon27:c.A2558C:p.Y853S;ENSG00000049759:ENST00000400345:exon29:c.A2750C:p.Y917S;ENSG00000049759:ENST00000589054:exon2:c.A143C:p.Y48S;ENSG00000049759:ENST00000586263:exon28:c.A2666C:p.Y889S;	0.63548405632779	0.678
18	56057972	A	G	18	58390740	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.A2666G:p.Y889C;NEDD4L:NM_001144964:exon29:c.A2387G:p.Y796C;NEDD4L:NM_015277:exon28:c.A2690G:p.Y897C;NEDD4L:NM_001144967:exon29:c.A2750G:p.Y917C;NEDD4L:NM_001144971:exon29:c.A2327G:p.Y776C;NEDD4L:NM_001144968:exon29:c.A2726G:p.Y909C;NEDD4L:NM_001144970:exon27:c.A2327G:p.Y776C;NEDD4L:NM_001144965:exon29:c.A2387G:p.Y796C;NEDD4L:NM_001144966:exon28:c.A2387G:p.Y796C;NEDD4L:NM_001243960:exon27:c.A2558G:p.Y853C;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.A1742G:p.Y581C;ENSG00000049759:ENST00000435432:exon29:c.A2327G:p.Y776C;ENSG00000049759:ENST00000382850:exon28:c.A2690G:p.Y897C;ENSG00000049759:ENST00000456986:exon29:c.A2387G:p.Y796C;ENSG00000049759:ENST00000256830:exon26:c.A2438G:p.Y813C;ENSG00000049759:ENST00000456173:exon27:c.A2327G:p.Y776C;ENSG00000049759:ENST00000357895:exon29:c.A2726G:p.Y909C;ENSG00000049759:ENST00000256832:exon29:c.A2330G:p.Y777C;ENSG00000049759:ENST00000431212:exon28:c.A2387G:p.Y796C;ENSG00000049759:ENST00000356462:exon27:c.A2558G:p.Y853C;ENSG00000049759:ENST00000400345:exon29:c.A2750G:p.Y917C;ENSG00000049759:ENST00000589054:exon2:c.A143G:p.Y48C;ENSG00000049759:ENST00000586263:exon28:c.A2666G:p.Y889C;	0.277911625597636	0.528
18	56057972	A	T	18	58390740	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.A2666T:p.Y889F;NEDD4L:NM_001144964:exon29:c.A2387T:p.Y796F;NEDD4L:NM_015277:exon28:c.A2690T:p.Y897F;NEDD4L:NM_001144967:exon29:c.A2750T:p.Y917F;NEDD4L:NM_001144971:exon29:c.A2327T:p.Y776F;NEDD4L:NM_001144968:exon29:c.A2726T:p.Y909F;NEDD4L:NM_001144970:exon27:c.A2327T:p.Y776F;NEDD4L:NM_001144965:exon29:c.A2387T:p.Y796F;NEDD4L:NM_001144966:exon28:c.A2387T:p.Y796F;NEDD4L:NM_001243960:exon27:c.A2558T:p.Y853F;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.A1742T:p.Y581F;ENSG00000049759:ENST00000435432:exon29:c.A2327T:p.Y776F;ENSG00000049759:ENST00000382850:exon28:c.A2690T:p.Y897F;ENSG00000049759:ENST00000456986:exon29:c.A2387T:p.Y796F;ENSG00000049759:ENST00000256830:exon26:c.A2438T:p.Y813F;ENSG00000049759:ENST00000456173:exon27:c.A2327T:p.Y776F;ENSG00000049759:ENST00000357895:exon29:c.A2726T:p.Y909F;ENSG00000049759:ENST00000256832:exon29:c.A2330T:p.Y777F;ENSG00000049759:ENST00000431212:exon28:c.A2387T:p.Y796F;ENSG00000049759:ENST00000356462:exon27:c.A2558T:p.Y853F;ENSG00000049759:ENST00000400345:exon29:c.A2750T:p.Y917F;ENSG00000049759:ENST00000589054:exon2:c.A143T:p.Y48F;ENSG00000049759:ENST00000586263:exon28:c.A2666T:p.Y889F;	0.926326612466713	0.678
18	56057973	T	A	18	58390741	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon28:c.T2667A:p.Y889X;NEDD4L:NM_001144964:exon29:c.T2388A:p.Y796X;NEDD4L:NM_015277:exon28:c.T2691A:p.Y897X;NEDD4L:NM_001144967:exon29:c.T2751A:p.Y917X;NEDD4L:NM_001144971:exon29:c.T2328A:p.Y776X;NEDD4L:NM_001144968:exon29:c.T2727A:p.Y909X;NEDD4L:NM_001144970:exon27:c.T2328A:p.Y776X;NEDD4L:NM_001144965:exon29:c.T2388A:p.Y796X;NEDD4L:NM_001144966:exon28:c.T2388A:p.Y796X;NEDD4L:NM_001243960:exon27:c.T2559A:p.Y853X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon18:c.T1743A:p.Y581X;ENSG00000049759:ENST00000435432:exon29:c.T2328A:p.Y776X;ENSG00000049759:ENST00000382850:exon28:c.T2691A:p.Y897X;ENSG00000049759:ENST00000456986:exon29:c.T2388A:p.Y796X;ENSG00000049759:ENST00000256830:exon26:c.T2439A:p.Y813X;ENSG00000049759:ENST00000456173:exon27:c.T2328A:p.Y776X;ENSG00000049759:ENST00000357895:exon29:c.T2727A:p.Y909X;ENSG00000049759:ENST00000256832:exon29:c.T2331A:p.Y777X;ENSG00000049759:ENST00000431212:exon28:c.T2388A:p.Y796X;ENSG00000049759:ENST00000356462:exon27:c.T2559A:p.Y853X;ENSG00000049759:ENST00000400345:exon29:c.T2751A:p.Y917X;ENSG00000049759:ENST00000589054:exon2:c.T144A:p.Y48X;ENSG00000049759:ENST00000586263:exon28:c.T2667A:p.Y889X;	1.19916240146412E-4	0.354
18	56057973	T	C	18	58390741	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon28:c.T2667C:p.Y889Y;NEDD4L:NM_001144964:exon29:c.T2388C:p.Y796Y;NEDD4L:NM_015277:exon28:c.T2691C:p.Y897Y;NEDD4L:NM_001144967:exon29:c.T2751C:p.Y917Y;NEDD4L:NM_001144971:exon29:c.T2328C:p.Y776Y;NEDD4L:NM_001144968:exon29:c.T2727C:p.Y909Y;NEDD4L:NM_001144970:exon27:c.T2328C:p.Y776Y;NEDD4L:NM_001144965:exon29:c.T2388C:p.Y796Y;NEDD4L:NM_001144966:exon28:c.T2388C:p.Y796Y;NEDD4L:NM_001243960:exon27:c.T2559C:p.Y853Y;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.T1743C:p.Y581Y;ENSG00000049759:ENST00000435432:exon29:c.T2328C:p.Y776Y;ENSG00000049759:ENST00000382850:exon28:c.T2691C:p.Y897Y;ENSG00000049759:ENST00000456986:exon29:c.T2388C:p.Y796Y;ENSG00000049759:ENST00000256830:exon26:c.T2439C:p.Y813Y;ENSG00000049759:ENST00000456173:exon27:c.T2328C:p.Y776Y;ENSG00000049759:ENST00000357895:exon29:c.T2727C:p.Y909Y;ENSG00000049759:ENST00000256832:exon29:c.T2331C:p.Y777Y;ENSG00000049759:ENST00000431212:exon28:c.T2388C:p.Y796Y;ENSG00000049759:ENST00000356462:exon27:c.T2559C:p.Y853Y;ENSG00000049759:ENST00000400345:exon29:c.T2751C:p.Y917Y;ENSG00000049759:ENST00000589054:exon2:c.T144C:p.Y48Y;ENSG00000049759:ENST00000586263:exon28:c.T2667C:p.Y889Y;	1.37065744119452E-4	0.026
18	56057973	T	G	18	58390741	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon28:c.T2667G:p.Y889X;NEDD4L:NM_001144964:exon29:c.T2388G:p.Y796X;NEDD4L:NM_015277:exon28:c.T2691G:p.Y897X;NEDD4L:NM_001144967:exon29:c.T2751G:p.Y917X;NEDD4L:NM_001144971:exon29:c.T2328G:p.Y776X;NEDD4L:NM_001144968:exon29:c.T2727G:p.Y909X;NEDD4L:NM_001144970:exon27:c.T2328G:p.Y776X;NEDD4L:NM_001144965:exon29:c.T2388G:p.Y796X;NEDD4L:NM_001144966:exon28:c.T2388G:p.Y796X;NEDD4L:NM_001243960:exon27:c.T2559G:p.Y853X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon18:c.T1743G:p.Y581X;ENSG00000049759:ENST00000435432:exon29:c.T2328G:p.Y776X;ENSG00000049759:ENST00000382850:exon28:c.T2691G:p.Y897X;ENSG00000049759:ENST00000456986:exon29:c.T2388G:p.Y796X;ENSG00000049759:ENST00000256830:exon26:c.T2439G:p.Y813X;ENSG00000049759:ENST00000456173:exon27:c.T2328G:p.Y776X;ENSG00000049759:ENST00000357895:exon29:c.T2727G:p.Y909X;ENSG00000049759:ENST00000256832:exon29:c.T2331G:p.Y777X;ENSG00000049759:ENST00000431212:exon28:c.T2388G:p.Y796X;ENSG00000049759:ENST00000356462:exon27:c.T2559G:p.Y853X;ENSG00000049759:ENST00000400345:exon29:c.T2751G:p.Y917X;ENSG00000049759:ENST00000589054:exon2:c.T144G:p.Y48X;ENSG00000049759:ENST00000586263:exon28:c.T2667G:p.Y889X;	6.40803280137362E-4	0.32
18	56057974	G	A	18	58390742	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.G2668A:p.G890S;NEDD4L:NM_001144964:exon29:c.G2389A:p.G797S;NEDD4L:NM_015277:exon28:c.G2692A:p.G898S;NEDD4L:NM_001144967:exon29:c.G2752A:p.G918S;NEDD4L:NM_001144971:exon29:c.G2329A:p.G777S;NEDD4L:NM_001144968:exon29:c.G2728A:p.G910S;NEDD4L:NM_001144970:exon27:c.G2329A:p.G777S;NEDD4L:NM_001144965:exon29:c.G2389A:p.G797S;NEDD4L:NM_001144966:exon28:c.G2389A:p.G797S;NEDD4L:NM_001243960:exon27:c.G2560A:p.G854S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.G1744A:p.G582S;ENSG00000049759:ENST00000435432:exon29:c.G2329A:p.G777S;ENSG00000049759:ENST00000382850:exon28:c.G2692A:p.G898S;ENSG00000049759:ENST00000456986:exon29:c.G2389A:p.G797S;ENSG00000049759:ENST00000256830:exon26:c.G2440A:p.G814S;ENSG00000049759:ENST00000456173:exon27:c.G2329A:p.G777S;ENSG00000049759:ENST00000357895:exon29:c.G2728A:p.G910S;ENSG00000049759:ENST00000256832:exon29:c.G2332A:p.G778S;ENSG00000049759:ENST00000431212:exon28:c.G2389A:p.G797S;ENSG00000049759:ENST00000356462:exon27:c.G2560A:p.G854S;ENSG00000049759:ENST00000400345:exon29:c.G2752A:p.G918S;ENSG00000049759:ENST00000589054:exon2:c.G145A:p.G49S;ENSG00000049759:ENST00000586263:exon28:c.G2668A:p.G890S;	0.999990995742564	0.998
18	56057974	G	C	18	58390742	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.G2668C:p.G890R;NEDD4L:NM_001144964:exon29:c.G2389C:p.G797R;NEDD4L:NM_015277:exon28:c.G2692C:p.G898R;NEDD4L:NM_001144967:exon29:c.G2752C:p.G918R;NEDD4L:NM_001144971:exon29:c.G2329C:p.G777R;NEDD4L:NM_001144968:exon29:c.G2728C:p.G910R;NEDD4L:NM_001144970:exon27:c.G2329C:p.G777R;NEDD4L:NM_001144965:exon29:c.G2389C:p.G797R;NEDD4L:NM_001144966:exon28:c.G2389C:p.G797R;NEDD4L:NM_001243960:exon27:c.G2560C:p.G854R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.G1744C:p.G582R;ENSG00000049759:ENST00000435432:exon29:c.G2329C:p.G777R;ENSG00000049759:ENST00000382850:exon28:c.G2692C:p.G898R;ENSG00000049759:ENST00000456986:exon29:c.G2389C:p.G797R;ENSG00000049759:ENST00000256830:exon26:c.G2440C:p.G814R;ENSG00000049759:ENST00000456173:exon27:c.G2329C:p.G777R;ENSG00000049759:ENST00000357895:exon29:c.G2728C:p.G910R;ENSG00000049759:ENST00000256832:exon29:c.G2332C:p.G778R;ENSG00000049759:ENST00000431212:exon28:c.G2389C:p.G797R;ENSG00000049759:ENST00000356462:exon27:c.G2560C:p.G854R;ENSG00000049759:ENST00000400345:exon29:c.G2752C:p.G918R;ENSG00000049759:ENST00000589054:exon2:c.G145C:p.G49R;ENSG00000049759:ENST00000586263:exon28:c.G2668C:p.G890R;	0.999996579472455	0.994
18	56057974	G	T	18	58390742	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon28:c.G2668T:p.G890C;NEDD4L:NM_001144964:exon29:c.G2389T:p.G797C;NEDD4L:NM_015277:exon28:c.G2692T:p.G898C;NEDD4L:NM_001144967:exon29:c.G2752T:p.G918C;NEDD4L:NM_001144971:exon29:c.G2329T:p.G777C;NEDD4L:NM_001144968:exon29:c.G2728T:p.G910C;NEDD4L:NM_001144970:exon27:c.G2329T:p.G777C;NEDD4L:NM_001144965:exon29:c.G2389T:p.G797C;NEDD4L:NM_001144966:exon28:c.G2389T:p.G797C;NEDD4L:NM_001243960:exon27:c.G2560T:p.G854C;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon18:c.G1744T:p.G582C;ENSG00000049759:ENST00000435432:exon29:c.G2329T:p.G777C;ENSG00000049759:ENST00000382850:exon28:c.G2692T:p.G898C;ENSG00000049759:ENST00000456986:exon29:c.G2389T:p.G797C;ENSG00000049759:ENST00000256830:exon26:c.G2440T:p.G814C;ENSG00000049759:ENST00000456173:exon27:c.G2329T:p.G777C;ENSG00000049759:ENST00000357895:exon29:c.G2728T:p.G910C;ENSG00000049759:ENST00000256832:exon29:c.G2332T:p.G778C;ENSG00000049759:ENST00000431212:exon28:c.G2389T:p.G797C;ENSG00000049759:ENST00000356462:exon27:c.G2560T:p.G854C;ENSG00000049759:ENST00000400345:exon29:c.G2752T:p.G918C;ENSG00000049759:ENST00000589054:exon2:c.G145T:p.G49C;ENSG00000049759:ENST00000586263:exon28:c.G2668T:p.G890C;	0.999975373910982	1.0
18	56057975	G	A	18	58390743	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2752+1G>A;NM_001243960:exon27:c.2560+1G>A;NM_015277:exon28:c.2692+1G>A;NM_001144964:exon29:c.2389+1G>A;NM_001144968:exon29:c.2728+1G>A;NM_001144965:exon29:c.2389+1G>A;NM_001144971:exon29:c.2329+1G>A;NM_001144969:exon28:c.2668+1G>A;NM_001144970:exon27:c.2329+1G>A;NM_001144966:exon28:c.2389+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2560+1G>A;ENST00000400345:exon29:c.2752+1G>A;ENST00000589054:exon2:c.145+1G>A;ENST00000256832:exon29:c.2332+1G>A;ENST00000382850:exon28:c.2692+1G>A;ENST00000256830:exon26:c.2440+1G>A;ENST00000456986:exon29:c.2389+1G>A;ENST00000357895:exon29:c.2728+1G>A;ENST00000435432:exon29:c.2329+1G>A;ENST00000586263:exon28:c.2668+1G>A;ENST00000456173:exon27:c.2329+1G>A;ENST00000431212:exon28:c.2389+1G>A;ENST00000587881:exon18:c.1744+1G>A)	.	.	0.999985532734767	0.936
18	56057975	G	C	18	58390743	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2752+1G>C;NM_001243960:exon27:c.2560+1G>C;NM_015277:exon28:c.2692+1G>C;NM_001144964:exon29:c.2389+1G>C;NM_001144968:exon29:c.2728+1G>C;NM_001144965:exon29:c.2389+1G>C;NM_001144971:exon29:c.2329+1G>C;NM_001144969:exon28:c.2668+1G>C;NM_001144970:exon27:c.2329+1G>C;NM_001144966:exon28:c.2389+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2560+1G>C;ENST00000400345:exon29:c.2752+1G>C;ENST00000589054:exon2:c.145+1G>C;ENST00000256832:exon29:c.2332+1G>C;ENST00000382850:exon28:c.2692+1G>C;ENST00000256830:exon26:c.2440+1G>C;ENST00000456986:exon29:c.2389+1G>C;ENST00000357895:exon29:c.2728+1G>C;ENST00000435432:exon29:c.2329+1G>C;ENST00000586263:exon28:c.2668+1G>C;ENST00000456173:exon27:c.2329+1G>C;ENST00000431212:exon28:c.2389+1G>C;ENST00000587881:exon18:c.1744+1G>C)	.	.	0.999985532734767	0.936
18	56057975	G	T	18	58390743	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2752+1G>T;NM_001243960:exon27:c.2560+1G>T;NM_015277:exon28:c.2692+1G>T;NM_001144964:exon29:c.2389+1G>T;NM_001144968:exon29:c.2728+1G>T;NM_001144965:exon29:c.2389+1G>T;NM_001144971:exon29:c.2329+1G>T;NM_001144969:exon28:c.2668+1G>T;NM_001144970:exon27:c.2329+1G>T;NM_001144966:exon28:c.2389+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2560+1G>T;ENST00000400345:exon29:c.2752+1G>T;ENST00000589054:exon2:c.145+1G>T;ENST00000256832:exon29:c.2332+1G>T;ENST00000382850:exon28:c.2692+1G>T;ENST00000256830:exon26:c.2440+1G>T;ENST00000456986:exon29:c.2389+1G>T;ENST00000357895:exon29:c.2728+1G>T;ENST00000435432:exon29:c.2329+1G>T;ENST00000586263:exon28:c.2668+1G>T;ENST00000456173:exon27:c.2329+1G>T;ENST00000431212:exon28:c.2389+1G>T;ENST00000587881:exon18:c.1744+1G>T)	.	.	0.999985532734767	0.936
18	56057976	T	A	18	58390744	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2752+2T>A;NM_001243960:exon27:c.2560+2T>A;NM_015277:exon28:c.2692+2T>A;NM_001144964:exon29:c.2389+2T>A;NM_001144968:exon29:c.2728+2T>A;NM_001144965:exon29:c.2389+2T>A;NM_001144971:exon29:c.2329+2T>A;NM_001144969:exon28:c.2668+2T>A;NM_001144970:exon27:c.2329+2T>A;NM_001144966:exon28:c.2389+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2560+2T>A;ENST00000400345:exon29:c.2752+2T>A;ENST00000589054:exon2:c.145+2T>A;ENST00000256832:exon29:c.2332+2T>A;ENST00000382850:exon28:c.2692+2T>A;ENST00000256830:exon26:c.2440+2T>A;ENST00000456986:exon29:c.2389+2T>A;ENST00000357895:exon29:c.2728+2T>A;ENST00000435432:exon29:c.2329+2T>A;ENST00000586263:exon28:c.2668+2T>A;ENST00000456173:exon27:c.2329+2T>A;ENST00000431212:exon28:c.2389+2T>A;ENST00000587881:exon18:c.1744+2T>A)	.	.	0.999988247793601	0.928
18	56057976	T	C	18	58390744	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2752+2T>C;NM_001243960:exon27:c.2560+2T>C;NM_015277:exon28:c.2692+2T>C;NM_001144964:exon29:c.2389+2T>C;NM_001144968:exon29:c.2728+2T>C;NM_001144965:exon29:c.2389+2T>C;NM_001144971:exon29:c.2329+2T>C;NM_001144969:exon28:c.2668+2T>C;NM_001144970:exon27:c.2329+2T>C;NM_001144966:exon28:c.2389+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2560+2T>C;ENST00000400345:exon29:c.2752+2T>C;ENST00000589054:exon2:c.145+2T>C;ENST00000256832:exon29:c.2332+2T>C;ENST00000382850:exon28:c.2692+2T>C;ENST00000256830:exon26:c.2440+2T>C;ENST00000456986:exon29:c.2389+2T>C;ENST00000357895:exon29:c.2728+2T>C;ENST00000435432:exon29:c.2329+2T>C;ENST00000586263:exon28:c.2668+2T>C;ENST00000456173:exon27:c.2329+2T>C;ENST00000431212:exon28:c.2389+2T>C;ENST00000587881:exon18:c.1744+2T>C)	.	.	0.999983530538551	0.946
18	56057976	T	G	18	58390744	y	y	splicing	NEDD4L(NM_001144967:exon29:c.2752+2T>G;NM_001243960:exon27:c.2560+2T>G;NM_015277:exon28:c.2692+2T>G;NM_001144964:exon29:c.2389+2T>G;NM_001144968:exon29:c.2728+2T>G;NM_001144965:exon29:c.2389+2T>G;NM_001144971:exon29:c.2329+2T>G;NM_001144969:exon28:c.2668+2T>G;NM_001144970:exon27:c.2329+2T>G;NM_001144966:exon28:c.2389+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon27:c.2560+2T>G;ENST00000400345:exon29:c.2752+2T>G;ENST00000589054:exon2:c.145+2T>G;ENST00000256832:exon29:c.2332+2T>G;ENST00000382850:exon28:c.2692+2T>G;ENST00000256830:exon26:c.2440+2T>G;ENST00000456986:exon29:c.2389+2T>G;ENST00000357895:exon29:c.2728+2T>G;ENST00000435432:exon29:c.2329+2T>G;ENST00000586263:exon28:c.2668+2T>G;ENST00000456173:exon27:c.2329+2T>G;ENST00000431212:exon28:c.2389+2T>G;ENST00000587881:exon18:c.1744+2T>G)	.	.	0.999988247793601	0.928
18	56057977	G	A	18	58390745	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.17663548311124E-4	0.0
18	56057977	G	C	18	58390745	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.856319806787293	0.716
18	56057977	G	T	18	58390745	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.91119465645975	0.694
18	56057978	A	C	18	58390746	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997663359412401	0.892
18	56057978	A	G	18	58390746	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997671216343133	0.918
18	56057978	A	T	18	58390746	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99756795743099	0.954
18	56057979	G	A	18	58390747	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999953793319852	1.0
18	56057979	G	C	18	58390747	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999956060219245	0.98
18	56057979	G	T	18	58390747	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999916510844406	0.98
18	56057980	C	A	18	58390748	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.28697094619199E-4	0.066
18	56057980	C	G	18	58390748	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.60469333813763E-4	0.054
18	56057980	C	T	18	58390748	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.56145393794452E-4	0.03
18	56057981	A	C	18	58390749	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.32022946453205E-4	0.002
18	56057981	A	G	18	58390749	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.07130556593414E-4	0.002
18	56057981	A	T	18	58390749	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.49249201045309E-4	0.002
18	56057982	G	A	18	58390750	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.99834543599268E-4	0.008
18	56057982	G	C	18	58390750	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.78237981018361E-4	0.012
18	56057982	G	T	18	58390750	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.99834543599268E-4	0.006
18	56058707	T	A	18	58391475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.35785931925555E-4	0.054
18	56058707	T	C	18	58391475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.04634730837979E-4	0.032
18	56058707	T	G	18	58391475	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.79082183576344E-4	0.096
18	56058708	T	A	18	58391476	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.44016598700459E-4	0.182
18	56058708	T	C	18	58391476	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.96012654413801E-4	0.078
18	56058708	T	G	18	58391476	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.49227837273198E-4	0.174
18	56058709	T	A	18	58391477	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.10597118901922E-4	0.118
18	56058709	T	C	18	58391477	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.34437225688285E-5	0.028
18	56058709	T	G	18	58391477	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.12185804616167E-4	0.088
18	56058710	C	A	18	58391478	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.58540978452592E-4	0.048
18	56058710	C	G	18	58391478	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00102600323998816	0.12
18	56058710	C	T	18	58391478	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0015798049520973	0.126
18	56058711	T	A	18	58391479	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.13575898310281E-4	0.064
18	56058711	T	C	18	58391479	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.46093391569475E-5	0.004
18	56058711	T	G	18	58391479	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.29744809125997E-4	0.064
18	56058712	T	A	18	58391480	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.99717407604937	0.806
18	56058712	T	C	18	58391480	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.22880341331364E-4	0.008
18	56058712	T	G	18	58391480	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.25355480802739E-4	0.078
18	56058713	G	A	18	58391481	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0124192541711665	0.228
18	56058713	G	C	18	58391481	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0039711931200446	0.14
18	56058713	G	T	18	58391481	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00402512952077043	0.166
18	56058714	T	A	18	58391482	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00271159043332621	0.178
18	56058714	T	C	18	58391482	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00100628235271634	0.044
18	56058714	T	G	18	58391482	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00277707695725122	0.17
18	56058715	C	A	18	58391483	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.7681100176711E-4	0.01
18	56058715	C	G	18	58391483	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.2520517451779E-4	0.004
18	56058715	C	T	18	58391483	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	8.78230219180303E-5	0.008
18	56058716	T	A	18	58391484	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00269532865051645	0.206
18	56058716	T	C	18	58391484	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.58438335869742E-5	0.024
18	56058716	T	G	18	58391484	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.141116642648788	0.522
18	56058717	A	C	18	58391485	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2753-2A>C;NM_001243960:exon28:c.2561-2A>C;NM_015277:exon29:c.2693-2A>C;NM_001144964:exon30:c.2390-2A>C;NM_001144968:exon30:c.2729-2A>C;NM_001144965:exon30:c.2390-2A>C;NM_001144971:exon30:c.2330-2A>C;NM_001144969:exon29:c.2669-2A>C;NM_001144970:exon28:c.2330-2A>C;NM_001144966:exon29:c.2390-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2561-2A>C;ENST00000400345:exon30:c.2753-2A>C;ENST00000589054:exon3:c.146-2A>C;ENST00000256832:exon30:c.2333-2A>C;ENST00000382850:exon29:c.2693-2A>C;ENST00000256830:exon27:c.2441-2A>C;ENST00000456986:exon30:c.2390-2A>C;ENST00000357895:exon30:c.2729-2A>C;ENST00000435432:exon30:c.2330-2A>C;ENST00000586263:exon29:c.2669-2A>C;ENST00000456173:exon28:c.2330-2A>C;ENST00000431212:exon29:c.2390-2A>C;ENST00000587881:exon19:c.1745-2A>C)	.	.	0.999988247793601	0.93
18	56058717	A	G	18	58391485	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2753-2A>G;NM_001243960:exon28:c.2561-2A>G;NM_015277:exon29:c.2693-2A>G;NM_001144964:exon30:c.2390-2A>G;NM_001144968:exon30:c.2729-2A>G;NM_001144965:exon30:c.2390-2A>G;NM_001144971:exon30:c.2330-2A>G;NM_001144969:exon29:c.2669-2A>G;NM_001144970:exon28:c.2330-2A>G;NM_001144966:exon29:c.2390-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2561-2A>G;ENST00000400345:exon30:c.2753-2A>G;ENST00000589054:exon3:c.146-2A>G;ENST00000256832:exon30:c.2333-2A>G;ENST00000382850:exon29:c.2693-2A>G;ENST00000256830:exon27:c.2441-2A>G;ENST00000456986:exon30:c.2390-2A>G;ENST00000357895:exon30:c.2729-2A>G;ENST00000435432:exon30:c.2330-2A>G;ENST00000586263:exon29:c.2669-2A>G;ENST00000456173:exon28:c.2330-2A>G;ENST00000431212:exon29:c.2390-2A>G;ENST00000587881:exon19:c.1745-2A>G)	.	.	0.999988247793601	0.93
18	56058717	A	T	18	58391485	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2753-2A>T;NM_001243960:exon28:c.2561-2A>T;NM_015277:exon29:c.2693-2A>T;NM_001144964:exon30:c.2390-2A>T;NM_001144968:exon30:c.2729-2A>T;NM_001144965:exon30:c.2390-2A>T;NM_001144971:exon30:c.2330-2A>T;NM_001144969:exon29:c.2669-2A>T;NM_001144970:exon28:c.2330-2A>T;NM_001144966:exon29:c.2390-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2561-2A>T;ENST00000400345:exon30:c.2753-2A>T;ENST00000589054:exon3:c.146-2A>T;ENST00000256832:exon30:c.2333-2A>T;ENST00000382850:exon29:c.2693-2A>T;ENST00000256830:exon27:c.2441-2A>T;ENST00000456986:exon30:c.2390-2A>T;ENST00000357895:exon30:c.2729-2A>T;ENST00000435432:exon30:c.2330-2A>T;ENST00000586263:exon29:c.2669-2A>T;ENST00000456173:exon28:c.2330-2A>T;ENST00000431212:exon29:c.2390-2A>T;ENST00000587881:exon19:c.1745-2A>T)	.	.	0.999988247793601	0.93
18	56058718	G	A	18	58391486	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2753-1G>A;NM_001243960:exon28:c.2561-1G>A;NM_015277:exon29:c.2693-1G>A;NM_001144964:exon30:c.2390-1G>A;NM_001144968:exon30:c.2729-1G>A;NM_001144965:exon30:c.2390-1G>A;NM_001144971:exon30:c.2330-1G>A;NM_001144969:exon29:c.2669-1G>A;NM_001144970:exon28:c.2330-1G>A;NM_001144966:exon29:c.2390-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2561-1G>A;ENST00000400345:exon30:c.2753-1G>A;ENST00000589054:exon3:c.146-1G>A;ENST00000256832:exon30:c.2333-1G>A;ENST00000382850:exon29:c.2693-1G>A;ENST00000256830:exon27:c.2441-1G>A;ENST00000456986:exon30:c.2390-1G>A;ENST00000357895:exon30:c.2729-1G>A;ENST00000435432:exon30:c.2330-1G>A;ENST00000586263:exon29:c.2669-1G>A;ENST00000456173:exon28:c.2330-1G>A;ENST00000431212:exon29:c.2390-1G>A;ENST00000587881:exon19:c.1745-1G>A)	.	.	0.999990361384395	0.938
18	56058718	G	C	18	58391486	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2753-1G>C;NM_001243960:exon28:c.2561-1G>C;NM_015277:exon29:c.2693-1G>C;NM_001144964:exon30:c.2390-1G>C;NM_001144968:exon30:c.2729-1G>C;NM_001144965:exon30:c.2390-1G>C;NM_001144971:exon30:c.2330-1G>C;NM_001144969:exon29:c.2669-1G>C;NM_001144970:exon28:c.2330-1G>C;NM_001144966:exon29:c.2390-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2561-1G>C;ENST00000400345:exon30:c.2753-1G>C;ENST00000589054:exon3:c.146-1G>C;ENST00000256832:exon30:c.2333-1G>C;ENST00000382850:exon29:c.2693-1G>C;ENST00000256830:exon27:c.2441-1G>C;ENST00000456986:exon30:c.2390-1G>C;ENST00000357895:exon30:c.2729-1G>C;ENST00000435432:exon30:c.2330-1G>C;ENST00000586263:exon29:c.2669-1G>C;ENST00000456173:exon28:c.2330-1G>C;ENST00000431212:exon29:c.2390-1G>C;ENST00000587881:exon19:c.1745-1G>C)	.	.	0.999990361384395	0.938
18	56058718	G	T	18	58391486	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2753-1G>T;NM_001243960:exon28:c.2561-1G>T;NM_015277:exon29:c.2693-1G>T;NM_001144964:exon30:c.2390-1G>T;NM_001144968:exon30:c.2729-1G>T;NM_001144965:exon30:c.2390-1G>T;NM_001144971:exon30:c.2330-1G>T;NM_001144969:exon29:c.2669-1G>T;NM_001144970:exon28:c.2330-1G>T;NM_001144966:exon29:c.2390-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2561-1G>T;ENST00000400345:exon30:c.2753-1G>T;ENST00000589054:exon3:c.146-1G>T;ENST00000256832:exon30:c.2333-1G>T;ENST00000382850:exon29:c.2693-1G>T;ENST00000256830:exon27:c.2441-1G>T;ENST00000456986:exon30:c.2390-1G>T;ENST00000357895:exon30:c.2729-1G>T;ENST00000435432:exon30:c.2330-1G>T;ENST00000586263:exon29:c.2669-1G>T;ENST00000456173:exon28:c.2330-1G>T;ENST00000431212:exon29:c.2390-1G>T;ENST00000587881:exon19:c.1745-1G>T)	.	.	0.999990361384395	0.938
18	56058719	G	A	18	58391487	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.G2669A:p.G890D;NEDD4L:NM_001144964:exon30:c.G2390A:p.G797D;NEDD4L:NM_015277:exon29:c.G2693A:p.G898D;NEDD4L:NM_001144967:exon30:c.G2753A:p.G918D;NEDD4L:NM_001144971:exon30:c.G2330A:p.G777D;NEDD4L:NM_001144968:exon30:c.G2729A:p.G910D;NEDD4L:NM_001144970:exon28:c.G2330A:p.G777D;NEDD4L:NM_001144965:exon30:c.G2390A:p.G797D;NEDD4L:NM_001144966:exon29:c.G2390A:p.G797D;NEDD4L:NM_001243960:exon28:c.G2561A:p.G854D;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.G1745A:p.G582D;ENSG00000049759:ENST00000435432:exon30:c.G2330A:p.G777D;ENSG00000049759:ENST00000382850:exon29:c.G2693A:p.G898D;ENSG00000049759:ENST00000456986:exon30:c.G2390A:p.G797D;ENSG00000049759:ENST00000256830:exon27:c.G2441A:p.G814D;ENSG00000049759:ENST00000456173:exon28:c.G2330A:p.G777D;ENSG00000049759:ENST00000357895:exon30:c.G2729A:p.G910D;ENSG00000049759:ENST00000256832:exon30:c.G2333A:p.G778D;ENSG00000049759:ENST00000431212:exon29:c.G2390A:p.G797D;ENSG00000049759:ENST00000356462:exon28:c.G2561A:p.G854D;ENSG00000049759:ENST00000400345:exon30:c.G2753A:p.G918D;ENSG00000049759:ENST00000589054:exon3:c.G146A:p.G49D;ENSG00000049759:ENST00000586263:exon29:c.G2669A:p.G890D;	0.997492599854925	0.896
18	56058719	G	C	18	58391487	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.G2669C:p.G890A;NEDD4L:NM_001144964:exon30:c.G2390C:p.G797A;NEDD4L:NM_015277:exon29:c.G2693C:p.G898A;NEDD4L:NM_001144967:exon30:c.G2753C:p.G918A;NEDD4L:NM_001144971:exon30:c.G2330C:p.G777A;NEDD4L:NM_001144968:exon30:c.G2729C:p.G910A;NEDD4L:NM_001144970:exon28:c.G2330C:p.G777A;NEDD4L:NM_001144965:exon30:c.G2390C:p.G797A;NEDD4L:NM_001144966:exon29:c.G2390C:p.G797A;NEDD4L:NM_001243960:exon28:c.G2561C:p.G854A;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.G1745C:p.G582A;ENSG00000049759:ENST00000435432:exon30:c.G2330C:p.G777A;ENSG00000049759:ENST00000382850:exon29:c.G2693C:p.G898A;ENSG00000049759:ENST00000456986:exon30:c.G2390C:p.G797A;ENSG00000049759:ENST00000256830:exon27:c.G2441C:p.G814A;ENSG00000049759:ENST00000456173:exon28:c.G2330C:p.G777A;ENSG00000049759:ENST00000357895:exon30:c.G2729C:p.G910A;ENSG00000049759:ENST00000256832:exon30:c.G2333C:p.G778A;ENSG00000049759:ENST00000431212:exon29:c.G2390C:p.G797A;ENSG00000049759:ENST00000356462:exon28:c.G2561C:p.G854A;ENSG00000049759:ENST00000400345:exon30:c.G2753C:p.G918A;ENSG00000049759:ENST00000589054:exon3:c.G146C:p.G49A;ENSG00000049759:ENST00000586263:exon29:c.G2669C:p.G890A;	0.999666241529894	0.932
18	56058719	G	T	18	58391487	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.G2669T:p.G890V;NEDD4L:NM_001144964:exon30:c.G2390T:p.G797V;NEDD4L:NM_015277:exon29:c.G2693T:p.G898V;NEDD4L:NM_001144967:exon30:c.G2753T:p.G918V;NEDD4L:NM_001144971:exon30:c.G2330T:p.G777V;NEDD4L:NM_001144968:exon30:c.G2729T:p.G910V;NEDD4L:NM_001144970:exon28:c.G2330T:p.G777V;NEDD4L:NM_001144965:exon30:c.G2390T:p.G797V;NEDD4L:NM_001144966:exon29:c.G2390T:p.G797V;NEDD4L:NM_001243960:exon28:c.G2561T:p.G854V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.G1745T:p.G582V;ENSG00000049759:ENST00000435432:exon30:c.G2330T:p.G777V;ENSG00000049759:ENST00000382850:exon29:c.G2693T:p.G898V;ENSG00000049759:ENST00000456986:exon30:c.G2390T:p.G797V;ENSG00000049759:ENST00000256830:exon27:c.G2441T:p.G814V;ENSG00000049759:ENST00000456173:exon28:c.G2330T:p.G777V;ENSG00000049759:ENST00000357895:exon30:c.G2729T:p.G910V;ENSG00000049759:ENST00000256832:exon30:c.G2333T:p.G778V;ENSG00000049759:ENST00000431212:exon29:c.G2390T:p.G797V;ENSG00000049759:ENST00000356462:exon28:c.G2561T:p.G854V;ENSG00000049759:ENST00000400345:exon30:c.G2753T:p.G918V;ENSG00000049759:ENST00000589054:exon3:c.G146T:p.G49V;ENSG00000049759:ENST00000586263:exon29:c.G2669T:p.G890V;	0.999720931208872	0.934
18	56058720	T	A	18	58391488	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon29:c.T2670A:p.G890G;NEDD4L:NM_001144964:exon30:c.T2391A:p.G797G;NEDD4L:NM_015277:exon29:c.T2694A:p.G898G;NEDD4L:NM_001144967:exon30:c.T2754A:p.G918G;NEDD4L:NM_001144971:exon30:c.T2331A:p.G777G;NEDD4L:NM_001144968:exon30:c.T2730A:p.G910G;NEDD4L:NM_001144970:exon28:c.T2331A:p.G777G;NEDD4L:NM_001144965:exon30:c.T2391A:p.G797G;NEDD4L:NM_001144966:exon29:c.T2391A:p.G797G;NEDD4L:NM_001243960:exon28:c.T2562A:p.G854G;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.T1746A:p.G582G;ENSG00000049759:ENST00000435432:exon30:c.T2331A:p.G777G;ENSG00000049759:ENST00000382850:exon29:c.T2694A:p.G898G;ENSG00000049759:ENST00000456986:exon30:c.T2391A:p.G797G;ENSG00000049759:ENST00000256830:exon27:c.T2442A:p.G814G;ENSG00000049759:ENST00000456173:exon28:c.T2331A:p.G777G;ENSG00000049759:ENST00000357895:exon30:c.T2730A:p.G910G;ENSG00000049759:ENST00000256832:exon30:c.T2334A:p.G778G;ENSG00000049759:ENST00000431212:exon29:c.T2391A:p.G797G;ENSG00000049759:ENST00000356462:exon28:c.T2562A:p.G854G;ENSG00000049759:ENST00000400345:exon30:c.T2754A:p.G918G;ENSG00000049759:ENST00000589054:exon3:c.T147A:p.G49G;ENSG00000049759:ENST00000586263:exon29:c.T2670A:p.G890G;	0.00240617588875629	0.058
18	56058720	T	C	18	58391488	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon29:c.T2670C:p.G890G;NEDD4L:NM_001144964:exon30:c.T2391C:p.G797G;NEDD4L:NM_015277:exon29:c.T2694C:p.G898G;NEDD4L:NM_001144967:exon30:c.T2754C:p.G918G;NEDD4L:NM_001144971:exon30:c.T2331C:p.G777G;NEDD4L:NM_001144968:exon30:c.T2730C:p.G910G;NEDD4L:NM_001144970:exon28:c.T2331C:p.G777G;NEDD4L:NM_001144965:exon30:c.T2391C:p.G797G;NEDD4L:NM_001144966:exon29:c.T2391C:p.G797G;NEDD4L:NM_001243960:exon28:c.T2562C:p.G854G;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.T1746C:p.G582G;ENSG00000049759:ENST00000435432:exon30:c.T2331C:p.G777G;ENSG00000049759:ENST00000382850:exon29:c.T2694C:p.G898G;ENSG00000049759:ENST00000456986:exon30:c.T2391C:p.G797G;ENSG00000049759:ENST00000256830:exon27:c.T2442C:p.G814G;ENSG00000049759:ENST00000456173:exon28:c.T2331C:p.G777G;ENSG00000049759:ENST00000357895:exon30:c.T2730C:p.G910G;ENSG00000049759:ENST00000256832:exon30:c.T2334C:p.G778G;ENSG00000049759:ENST00000431212:exon29:c.T2391C:p.G797G;ENSG00000049759:ENST00000356462:exon28:c.T2562C:p.G854G;ENSG00000049759:ENST00000400345:exon30:c.T2754C:p.G918G;ENSG00000049759:ENST00000589054:exon3:c.T147C:p.G49G;ENSG00000049759:ENST00000586263:exon29:c.T2670C:p.G890G;	0.00130248812256498	0.032
18	56058720	T	G	18	58391488	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon29:c.T2670G:p.G890G;NEDD4L:NM_001144964:exon30:c.T2391G:p.G797G;NEDD4L:NM_015277:exon29:c.T2694G:p.G898G;NEDD4L:NM_001144967:exon30:c.T2754G:p.G918G;NEDD4L:NM_001144971:exon30:c.T2331G:p.G777G;NEDD4L:NM_001144968:exon30:c.T2730G:p.G910G;NEDD4L:NM_001144970:exon28:c.T2331G:p.G777G;NEDD4L:NM_001144965:exon30:c.T2391G:p.G797G;NEDD4L:NM_001144966:exon29:c.T2391G:p.G797G;NEDD4L:NM_001243960:exon28:c.T2562G:p.G854G;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.T1746G:p.G582G;ENSG00000049759:ENST00000435432:exon30:c.T2331G:p.G777G;ENSG00000049759:ENST00000382850:exon29:c.T2694G:p.G898G;ENSG00000049759:ENST00000456986:exon30:c.T2391G:p.G797G;ENSG00000049759:ENST00000256830:exon27:c.T2442G:p.G814G;ENSG00000049759:ENST00000456173:exon28:c.T2331G:p.G777G;ENSG00000049759:ENST00000357895:exon30:c.T2730G:p.G910G;ENSG00000049759:ENST00000256832:exon30:c.T2334G:p.G778G;ENSG00000049759:ENST00000431212:exon29:c.T2391G:p.G797G;ENSG00000049759:ENST00000356462:exon28:c.T2562G:p.G854G;ENSG00000049759:ENST00000400345:exon30:c.T2754G:p.G918G;ENSG00000049759:ENST00000589054:exon3:c.T147G:p.G49G;ENSG00000049759:ENST00000586263:exon29:c.T2670G:p.G890G;	6.06230665502642E-4	0.018
18	56058789	A	C	18	58391557	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon29:c.A2739C:p.T913T;NEDD4L:NM_001144964:exon30:c.A2460C:p.T820T;NEDD4L:NM_015277:exon29:c.A2763C:p.T921T;NEDD4L:NM_001144967:exon30:c.A2823C:p.T941T;NEDD4L:NM_001144971:exon30:c.A2400C:p.T800T;NEDD4L:NM_001144968:exon30:c.A2799C:p.T933T;NEDD4L:NM_001144970:exon28:c.A2400C:p.T800T;NEDD4L:NM_001144965:exon30:c.A2460C:p.T820T;NEDD4L:NM_001144966:exon29:c.A2460C:p.T820T;NEDD4L:NM_001243960:exon28:c.A2631C:p.T877T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.A1815C:p.T605T;ENSG00000049759:ENST00000435432:exon30:c.A2400C:p.T800T;ENSG00000049759:ENST00000382850:exon29:c.A2763C:p.T921T;ENSG00000049759:ENST00000456986:exon30:c.A2460C:p.T820T;ENSG00000049759:ENST00000256830:exon27:c.A2511C:p.T837T;ENSG00000049759:ENST00000456173:exon28:c.A2400C:p.T800T;ENSG00000049759:ENST00000357895:exon30:c.A2799C:p.T933T;ENSG00000049759:ENST00000256832:exon30:c.A2403C:p.T801T;ENSG00000049759:ENST00000431212:exon29:c.A2460C:p.T820T;ENSG00000049759:ENST00000356462:exon28:c.A2631C:p.T877T;ENSG00000049759:ENST00000400345:exon30:c.A2823C:p.T941T;ENSG00000049759:ENST00000589054:exon3:c.A216C:p.T72T;ENSG00000049759:ENST00000586263:exon29:c.A2739C:p.T913T;	9.69516167673124E-5	0.002
18	56058789	A	G	18	58391557	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon29:c.A2739G:p.T913T;NEDD4L:NM_001144964:exon30:c.A2460G:p.T820T;NEDD4L:NM_015277:exon29:c.A2763G:p.T921T;NEDD4L:NM_001144967:exon30:c.A2823G:p.T941T;NEDD4L:NM_001144971:exon30:c.A2400G:p.T800T;NEDD4L:NM_001144968:exon30:c.A2799G:p.T933T;NEDD4L:NM_001144970:exon28:c.A2400G:p.T800T;NEDD4L:NM_001144965:exon30:c.A2460G:p.T820T;NEDD4L:NM_001144966:exon29:c.A2460G:p.T820T;NEDD4L:NM_001243960:exon28:c.A2631G:p.T877T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.A1815G:p.T605T;ENSG00000049759:ENST00000435432:exon30:c.A2400G:p.T800T;ENSG00000049759:ENST00000382850:exon29:c.A2763G:p.T921T;ENSG00000049759:ENST00000456986:exon30:c.A2460G:p.T820T;ENSG00000049759:ENST00000256830:exon27:c.A2511G:p.T837T;ENSG00000049759:ENST00000456173:exon28:c.A2400G:p.T800T;ENSG00000049759:ENST00000357895:exon30:c.A2799G:p.T933T;ENSG00000049759:ENST00000256832:exon30:c.A2403G:p.T801T;ENSG00000049759:ENST00000431212:exon29:c.A2460G:p.T820T;ENSG00000049759:ENST00000356462:exon28:c.A2631G:p.T877T;ENSG00000049759:ENST00000400345:exon30:c.A2823G:p.T941T;ENSG00000049759:ENST00000589054:exon3:c.A216G:p.T72T;ENSG00000049759:ENST00000586263:exon29:c.A2739G:p.T913T;	2.67668233577874E-4	0.012
18	56058789	A	T	18	58391557	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon29:c.A2739T:p.T913T;NEDD4L:NM_001144964:exon30:c.A2460T:p.T820T;NEDD4L:NM_015277:exon29:c.A2763T:p.T921T;NEDD4L:NM_001144967:exon30:c.A2823T:p.T941T;NEDD4L:NM_001144971:exon30:c.A2400T:p.T800T;NEDD4L:NM_001144968:exon30:c.A2799T:p.T933T;NEDD4L:NM_001144970:exon28:c.A2400T:p.T800T;NEDD4L:NM_001144965:exon30:c.A2460T:p.T820T;NEDD4L:NM_001144966:exon29:c.A2460T:p.T820T;NEDD4L:NM_001243960:exon28:c.A2631T:p.T877T;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.A1815T:p.T605T;ENSG00000049759:ENST00000435432:exon30:c.A2400T:p.T800T;ENSG00000049759:ENST00000382850:exon29:c.A2763T:p.T921T;ENSG00000049759:ENST00000456986:exon30:c.A2460T:p.T820T;ENSG00000049759:ENST00000256830:exon27:c.A2511T:p.T837T;ENSG00000049759:ENST00000456173:exon28:c.A2400T:p.T800T;ENSG00000049759:ENST00000357895:exon30:c.A2799T:p.T933T;ENSG00000049759:ENST00000256832:exon30:c.A2403T:p.T801T;ENSG00000049759:ENST00000431212:exon29:c.A2460T:p.T820T;ENSG00000049759:ENST00000356462:exon28:c.A2631T:p.T877T;ENSG00000049759:ENST00000400345:exon30:c.A2823T:p.T941T;ENSG00000049759:ENST00000589054:exon3:c.A216T:p.T72T;ENSG00000049759:ENST00000586263:exon29:c.A2739T:p.T913T;	3.99101485562452E-4	0.16
18	56058790	T	A	18	58391558	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.T2740A:p.C914S;NEDD4L:NM_001144964:exon30:c.T2461A:p.C821S;NEDD4L:NM_015277:exon29:c.T2764A:p.C922S;NEDD4L:NM_001144967:exon30:c.T2824A:p.C942S;NEDD4L:NM_001144971:exon30:c.T2401A:p.C801S;NEDD4L:NM_001144968:exon30:c.T2800A:p.C934S;NEDD4L:NM_001144970:exon28:c.T2401A:p.C801S;NEDD4L:NM_001144965:exon30:c.T2461A:p.C821S;NEDD4L:NM_001144966:exon29:c.T2461A:p.C821S;NEDD4L:NM_001243960:exon28:c.T2632A:p.C878S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.T1816A:p.C606S;ENSG00000049759:ENST00000435432:exon30:c.T2401A:p.C801S;ENSG00000049759:ENST00000382850:exon29:c.T2764A:p.C922S;ENSG00000049759:ENST00000456986:exon30:c.T2461A:p.C821S;ENSG00000049759:ENST00000256830:exon27:c.T2512A:p.C838S;ENSG00000049759:ENST00000456173:exon28:c.T2401A:p.C801S;ENSG00000049759:ENST00000357895:exon30:c.T2800A:p.C934S;ENSG00000049759:ENST00000256832:exon30:c.T2404A:p.C802S;ENSG00000049759:ENST00000431212:exon29:c.T2461A:p.C821S;ENSG00000049759:ENST00000356462:exon28:c.T2632A:p.C878S;ENSG00000049759:ENST00000400345:exon30:c.T2824A:p.C942S;ENSG00000049759:ENST00000589054:exon3:c.T217A:p.C73S;ENSG00000049759:ENST00000586263:exon29:c.T2740A:p.C914S;	0.748133813500787	0.662
18	56058790	T	C	18	58391558	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.T2740C:p.C914R;NEDD4L:NM_001144964:exon30:c.T2461C:p.C821R;NEDD4L:NM_015277:exon29:c.T2764C:p.C922R;NEDD4L:NM_001144967:exon30:c.T2824C:p.C942R;NEDD4L:NM_001144971:exon30:c.T2401C:p.C801R;NEDD4L:NM_001144968:exon30:c.T2800C:p.C934R;NEDD4L:NM_001144970:exon28:c.T2401C:p.C801R;NEDD4L:NM_001144965:exon30:c.T2461C:p.C821R;NEDD4L:NM_001144966:exon29:c.T2461C:p.C821R;NEDD4L:NM_001243960:exon28:c.T2632C:p.C878R;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.T1816C:p.C606R;ENSG00000049759:ENST00000435432:exon30:c.T2401C:p.C801R;ENSG00000049759:ENST00000382850:exon29:c.T2764C:p.C922R;ENSG00000049759:ENST00000456986:exon30:c.T2461C:p.C821R;ENSG00000049759:ENST00000256830:exon27:c.T2512C:p.C838R;ENSG00000049759:ENST00000456173:exon28:c.T2401C:p.C801R;ENSG00000049759:ENST00000357895:exon30:c.T2800C:p.C934R;ENSG00000049759:ENST00000256832:exon30:c.T2404C:p.C802R;ENSG00000049759:ENST00000431212:exon29:c.T2461C:p.C821R;ENSG00000049759:ENST00000356462:exon28:c.T2632C:p.C878R;ENSG00000049759:ENST00000400345:exon30:c.T2824C:p.C942R;ENSG00000049759:ENST00000589054:exon3:c.T217C:p.C73R;ENSG00000049759:ENST00000586263:exon29:c.T2740C:p.C914R;	0.948688114351879	0.912
18	56058790	T	G	18	58391558	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.T2740G:p.C914G;NEDD4L:NM_001144964:exon30:c.T2461G:p.C821G;NEDD4L:NM_015277:exon29:c.T2764G:p.C922G;NEDD4L:NM_001144967:exon30:c.T2824G:p.C942G;NEDD4L:NM_001144971:exon30:c.T2401G:p.C801G;NEDD4L:NM_001144968:exon30:c.T2800G:p.C934G;NEDD4L:NM_001144970:exon28:c.T2401G:p.C801G;NEDD4L:NM_001144965:exon30:c.T2461G:p.C821G;NEDD4L:NM_001144966:exon29:c.T2461G:p.C821G;NEDD4L:NM_001243960:exon28:c.T2632G:p.C878G;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.T1816G:p.C606G;ENSG00000049759:ENST00000435432:exon30:c.T2401G:p.C801G;ENSG00000049759:ENST00000382850:exon29:c.T2764G:p.C922G;ENSG00000049759:ENST00000456986:exon30:c.T2461G:p.C821G;ENSG00000049759:ENST00000256830:exon27:c.T2512G:p.C838G;ENSG00000049759:ENST00000456173:exon28:c.T2401G:p.C801G;ENSG00000049759:ENST00000357895:exon30:c.T2800G:p.C934G;ENSG00000049759:ENST00000256832:exon30:c.T2404G:p.C802G;ENSG00000049759:ENST00000431212:exon29:c.T2461G:p.C821G;ENSG00000049759:ENST00000356462:exon28:c.T2632G:p.C878G;ENSG00000049759:ENST00000400345:exon30:c.T2824G:p.C942G;ENSG00000049759:ENST00000589054:exon3:c.T217G:p.C73G;ENSG00000049759:ENST00000586263:exon29:c.T2740G:p.C914G;	0.951662682185769	0.916
18	56058791	G	A	18	58391559	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.G2741A:p.C914Y;NEDD4L:NM_001144964:exon30:c.G2462A:p.C821Y;NEDD4L:NM_015277:exon29:c.G2765A:p.C922Y;NEDD4L:NM_001144967:exon30:c.G2825A:p.C942Y;NEDD4L:NM_001144971:exon30:c.G2402A:p.C801Y;NEDD4L:NM_001144968:exon30:c.G2801A:p.C934Y;NEDD4L:NM_001144970:exon28:c.G2402A:p.C801Y;NEDD4L:NM_001144965:exon30:c.G2462A:p.C821Y;NEDD4L:NM_001144966:exon29:c.G2462A:p.C821Y;NEDD4L:NM_001243960:exon28:c.G2633A:p.C878Y;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.G1817A:p.C606Y;ENSG00000049759:ENST00000435432:exon30:c.G2402A:p.C801Y;ENSG00000049759:ENST00000382850:exon29:c.G2765A:p.C922Y;ENSG00000049759:ENST00000456986:exon30:c.G2462A:p.C821Y;ENSG00000049759:ENST00000256830:exon27:c.G2513A:p.C838Y;ENSG00000049759:ENST00000456173:exon28:c.G2402A:p.C801Y;ENSG00000049759:ENST00000357895:exon30:c.G2801A:p.C934Y;ENSG00000049759:ENST00000256832:exon30:c.G2405A:p.C802Y;ENSG00000049759:ENST00000431212:exon29:c.G2462A:p.C821Y;ENSG00000049759:ENST00000356462:exon28:c.G2633A:p.C878Y;ENSG00000049759:ENST00000400345:exon30:c.G2825A:p.C942Y;ENSG00000049759:ENST00000589054:exon3:c.G218A:p.C73Y;ENSG00000049759:ENST00000586263:exon29:c.G2741A:p.C914Y;	0.999971891317905	0.952
18	56058791	G	C	18	58391559	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.G2741C:p.C914S;NEDD4L:NM_001144964:exon30:c.G2462C:p.C821S;NEDD4L:NM_015277:exon29:c.G2765C:p.C922S;NEDD4L:NM_001144967:exon30:c.G2825C:p.C942S;NEDD4L:NM_001144971:exon30:c.G2402C:p.C801S;NEDD4L:NM_001144968:exon30:c.G2801C:p.C934S;NEDD4L:NM_001144970:exon28:c.G2402C:p.C801S;NEDD4L:NM_001144965:exon30:c.G2462C:p.C821S;NEDD4L:NM_001144966:exon29:c.G2462C:p.C821S;NEDD4L:NM_001243960:exon28:c.G2633C:p.C878S;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.G1817C:p.C606S;ENSG00000049759:ENST00000435432:exon30:c.G2402C:p.C801S;ENSG00000049759:ENST00000382850:exon29:c.G2765C:p.C922S;ENSG00000049759:ENST00000456986:exon30:c.G2462C:p.C821S;ENSG00000049759:ENST00000256830:exon27:c.G2513C:p.C838S;ENSG00000049759:ENST00000456173:exon28:c.G2402C:p.C801S;ENSG00000049759:ENST00000357895:exon30:c.G2801C:p.C934S;ENSG00000049759:ENST00000256832:exon30:c.G2405C:p.C802S;ENSG00000049759:ENST00000431212:exon29:c.G2462C:p.C821S;ENSG00000049759:ENST00000356462:exon28:c.G2633C:p.C878S;ENSG00000049759:ENST00000400345:exon30:c.G2825C:p.C942S;ENSG00000049759:ENST00000589054:exon3:c.G218C:p.C73S;ENSG00000049759:ENST00000586263:exon29:c.G2741C:p.C914S;	0.999984636405102	0.964
18	56058791	G	T	18	58391559	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon29:c.G2741T:p.C914F;NEDD4L:NM_001144964:exon30:c.G2462T:p.C821F;NEDD4L:NM_015277:exon29:c.G2765T:p.C922F;NEDD4L:NM_001144967:exon30:c.G2825T:p.C942F;NEDD4L:NM_001144971:exon30:c.G2402T:p.C801F;NEDD4L:NM_001144968:exon30:c.G2801T:p.C934F;NEDD4L:NM_001144970:exon28:c.G2402T:p.C801F;NEDD4L:NM_001144965:exon30:c.G2462T:p.C821F;NEDD4L:NM_001144966:exon29:c.G2462T:p.C821F;NEDD4L:NM_001243960:exon28:c.G2633T:p.C878F;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon19:c.G1817T:p.C606F;ENSG00000049759:ENST00000435432:exon30:c.G2402T:p.C801F;ENSG00000049759:ENST00000382850:exon29:c.G2765T:p.C922F;ENSG00000049759:ENST00000456986:exon30:c.G2462T:p.C821F;ENSG00000049759:ENST00000256830:exon27:c.G2513T:p.C838F;ENSG00000049759:ENST00000456173:exon28:c.G2402T:p.C801F;ENSG00000049759:ENST00000357895:exon30:c.G2801T:p.C934F;ENSG00000049759:ENST00000256832:exon30:c.G2405T:p.C802F;ENSG00000049759:ENST00000431212:exon29:c.G2462T:p.C821F;ENSG00000049759:ENST00000356462:exon28:c.G2633T:p.C878F;ENSG00000049759:ENST00000400345:exon30:c.G2825T:p.C942F;ENSG00000049759:ENST00000589054:exon3:c.G218T:p.C73F;ENSG00000049759:ENST00000586263:exon29:c.G2741T:p.C914F;	0.99993191383674	0.96
18	56058792	G	A	18	58391560	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2825+1G>A;NM_001243960:exon28:c.2633+1G>A;NM_015277:exon29:c.2765+1G>A;NM_001144964:exon30:c.2462+1G>A;NM_001144968:exon30:c.2801+1G>A;NM_001144965:exon30:c.2462+1G>A;NM_001144971:exon30:c.2402+1G>A;NM_001144969:exon29:c.2741+1G>A;NM_001144970:exon28:c.2402+1G>A;NM_001144966:exon29:c.2462+1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2633+1G>A;ENST00000400345:exon30:c.2825+1G>A;ENST00000589054:exon3:c.218+1G>A;ENST00000256832:exon30:c.2405+1G>A;ENST00000382850:exon29:c.2765+1G>A;ENST00000256830:exon27:c.2513+1G>A;ENST00000456986:exon30:c.2462+1G>A;ENST00000357895:exon30:c.2801+1G>A;ENST00000435432:exon30:c.2402+1G>A;ENST00000586263:exon29:c.2741+1G>A;ENST00000456173:exon28:c.2402+1G>A;ENST00000431212:exon29:c.2462+1G>A;ENST00000587881:exon19:c.1817+1G>A)	.	.	0.999985532734767	0.936
18	56058792	G	C	18	58391560	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2825+1G>C;NM_001243960:exon28:c.2633+1G>C;NM_015277:exon29:c.2765+1G>C;NM_001144964:exon30:c.2462+1G>C;NM_001144968:exon30:c.2801+1G>C;NM_001144965:exon30:c.2462+1G>C;NM_001144971:exon30:c.2402+1G>C;NM_001144969:exon29:c.2741+1G>C;NM_001144970:exon28:c.2402+1G>C;NM_001144966:exon29:c.2462+1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2633+1G>C;ENST00000400345:exon30:c.2825+1G>C;ENST00000589054:exon3:c.218+1G>C;ENST00000256832:exon30:c.2405+1G>C;ENST00000382850:exon29:c.2765+1G>C;ENST00000256830:exon27:c.2513+1G>C;ENST00000456986:exon30:c.2462+1G>C;ENST00000357895:exon30:c.2801+1G>C;ENST00000435432:exon30:c.2402+1G>C;ENST00000586263:exon29:c.2741+1G>C;ENST00000456173:exon28:c.2402+1G>C;ENST00000431212:exon29:c.2462+1G>C;ENST00000587881:exon19:c.1817+1G>C)	.	.	0.999985532734767	0.936
18	56058792	G	T	18	58391560	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2825+1G>T;NM_001243960:exon28:c.2633+1G>T;NM_015277:exon29:c.2765+1G>T;NM_001144964:exon30:c.2462+1G>T;NM_001144968:exon30:c.2801+1G>T;NM_001144965:exon30:c.2462+1G>T;NM_001144971:exon30:c.2402+1G>T;NM_001144969:exon29:c.2741+1G>T;NM_001144970:exon28:c.2402+1G>T;NM_001144966:exon29:c.2462+1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2633+1G>T;ENST00000400345:exon30:c.2825+1G>T;ENST00000589054:exon3:c.218+1G>T;ENST00000256832:exon30:c.2405+1G>T;ENST00000382850:exon29:c.2765+1G>T;ENST00000256830:exon27:c.2513+1G>T;ENST00000456986:exon30:c.2462+1G>T;ENST00000357895:exon30:c.2801+1G>T;ENST00000435432:exon30:c.2402+1G>T;ENST00000586263:exon29:c.2741+1G>T;ENST00000456173:exon28:c.2402+1G>T;ENST00000431212:exon29:c.2462+1G>T;ENST00000587881:exon19:c.1817+1G>T)	.	.	0.999985532734767	0.936
18	56058793	T	A	18	58391561	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2825+2T>A;NM_001243960:exon28:c.2633+2T>A;NM_015277:exon29:c.2765+2T>A;NM_001144964:exon30:c.2462+2T>A;NM_001144968:exon30:c.2801+2T>A;NM_001144965:exon30:c.2462+2T>A;NM_001144971:exon30:c.2402+2T>A;NM_001144969:exon29:c.2741+2T>A;NM_001144970:exon28:c.2402+2T>A;NM_001144966:exon29:c.2462+2T>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2633+2T>A;ENST00000400345:exon30:c.2825+2T>A;ENST00000589054:exon3:c.218+2T>A;ENST00000256832:exon30:c.2405+2T>A;ENST00000382850:exon29:c.2765+2T>A;ENST00000256830:exon27:c.2513+2T>A;ENST00000456986:exon30:c.2462+2T>A;ENST00000357895:exon30:c.2801+2T>A;ENST00000435432:exon30:c.2402+2T>A;ENST00000586263:exon29:c.2741+2T>A;ENST00000456173:exon28:c.2402+2T>A;ENST00000431212:exon29:c.2462+2T>A;ENST00000587881:exon19:c.1817+2T>A)	.	.	0.999988247793601	0.928
18	56058793	T	C	18	58391561	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2825+2T>C;NM_001243960:exon28:c.2633+2T>C;NM_015277:exon29:c.2765+2T>C;NM_001144964:exon30:c.2462+2T>C;NM_001144968:exon30:c.2801+2T>C;NM_001144965:exon30:c.2462+2T>C;NM_001144971:exon30:c.2402+2T>C;NM_001144969:exon29:c.2741+2T>C;NM_001144970:exon28:c.2402+2T>C;NM_001144966:exon29:c.2462+2T>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2633+2T>C;ENST00000400345:exon30:c.2825+2T>C;ENST00000589054:exon3:c.218+2T>C;ENST00000256832:exon30:c.2405+2T>C;ENST00000382850:exon29:c.2765+2T>C;ENST00000256830:exon27:c.2513+2T>C;ENST00000456986:exon30:c.2462+2T>C;ENST00000357895:exon30:c.2801+2T>C;ENST00000435432:exon30:c.2402+2T>C;ENST00000586263:exon29:c.2741+2T>C;ENST00000456173:exon28:c.2402+2T>C;ENST00000431212:exon29:c.2462+2T>C;ENST00000587881:exon19:c.1817+2T>C)	.	.	0.999929727175276	0.868
18	56058793	T	G	18	58391561	y	y	splicing	NEDD4L(NM_001144967:exon30:c.2825+2T>G;NM_001243960:exon28:c.2633+2T>G;NM_015277:exon29:c.2765+2T>G;NM_001144964:exon30:c.2462+2T>G;NM_001144968:exon30:c.2801+2T>G;NM_001144965:exon30:c.2462+2T>G;NM_001144971:exon30:c.2402+2T>G;NM_001144969:exon29:c.2741+2T>G;NM_001144970:exon28:c.2402+2T>G;NM_001144966:exon29:c.2462+2T>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon28:c.2633+2T>G;ENST00000400345:exon30:c.2825+2T>G;ENST00000589054:exon3:c.218+2T>G;ENST00000256832:exon30:c.2405+2T>G;ENST00000382850:exon29:c.2765+2T>G;ENST00000256830:exon27:c.2513+2T>G;ENST00000456986:exon30:c.2462+2T>G;ENST00000357895:exon30:c.2801+2T>G;ENST00000435432:exon30:c.2402+2T>G;ENST00000586263:exon29:c.2741+2T>G;ENST00000456173:exon28:c.2402+2T>G;ENST00000431212:exon29:c.2462+2T>G;ENST00000587881:exon19:c.1817+2T>G)	.	.	0.999988247793601	0.928
18	56058794	G	A	18	58391562	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.84235044526616E-5	0.004
18	56058794	G	C	18	58391562	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.536429586270527	0.4
18	56058794	G	T	18	58391562	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0740363536251285	0.28
18	56058795	A	C	18	58391563	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.920040460843408	0.62
18	56058795	A	G	18	58391563	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.991448498794254	0.794
18	56058795	A	T	18	58391563	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.9923817716476	0.716
18	56058796	G	A	18	58391564	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999653188541694	0.98
18	56058796	G	C	18	58391564	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999917225690439	0.978
18	56058796	G	T	18	58391564	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999769427210626	0.93
18	56058797	T	A	18	58391565	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.63383785961635	0.626
18	56058797	T	C	18	58391565	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.140044115307746	0.44
18	56058797	T	G	18	58391565	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.418430499267265	0.528
18	56058798	G	A	18	58391566	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.93943975321406E-4	0.064
18	56058798	G	C	18	58391566	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	3.30252878047435E-4	0.062
18	56058798	G	T	18	58391566	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.20393233100213E-4	0.08
18	56058799	A	C	18	58391567	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.81159136363845E-5	0.0
18	56058799	A	G	18	58391567	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.51523176149215E-4	0.0
18	56058799	A	T	18	58391567	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.81159136363845E-5	0.0
18	56063387	T	A	18	58396155	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.86259569950429E-4	0.114
18	56063387	T	C	18	58396155	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.99634130495327E-4	0.04
18	56063387	T	G	18	58396155	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00230715298797477	0.1
18	56063388	T	A	18	58396156	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.0113495349529902	0.22
18	56063388	T	C	18	58396156	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00127898403930252	0.064
18	56063388	T	G	18	58396156	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00148482759949528	0.176
18	56063389	C	A	18	58396157	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	7.57452939242466E-4	0.064
18	56063389	C	G	18	58396157	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.29474386421666E-4	0.038
18	56063389	C	T	18	58396157	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	6.8407275129739E-5	0.01
18	56063390	C	A	18	58396158	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00237982153679403	0.056
18	56063390	C	G	18	58396158	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00123808946673075	0.04
18	56063390	C	T	18	58396158	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	5.84173065256131E-5	0.004
18	56063391	T	A	18	58396159	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00430725597261388	0.11
18	56063391	T	C	18	58396159	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.81581564328147E-4	0.002
18	56063391	T	G	18	58396159	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00428232492920914	0.08
18	56063392	T	A	18	58396160	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.2166678965096E-4	0.006
18	56063392	T	C	18	58396160	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	4.68767831226844E-5	0.0
18	56063392	T	G	18	58396160	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.17289224851113E-4	0.002
18	56063393	T	A	18	58396161	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00358703963345132	0.134
18	56063393	T	C	18	58396161	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.16744005193844E-4	0.014
18	56063393	T	G	18	58396161	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.00164014076202438	0.14
18	56063394	T	A	18	58396162	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.996602274845264	0.928
18	56063394	T	C	18	58396162	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.08293568864286E-4	0.0
18	56063394	T	G	18	58396162	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	9.72982602289464E-4	0.134
18	56063395	G	A	18	58396163	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.96932846955348E-4	0.002
18	56063395	G	C	18	58396163	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	1.37909443760492E-4	0.008
18	56063395	G	T	18	58396163	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	2.7669821775993E-4	0.002
18	56063396	C	A	18	58396164	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.997112514485069	0.684
18	56063396	C	G	18	58396164	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.999922271599802	0.952
18	56063396	C	T	18	58396164	y	y	intronic	NEDD4L	.	.	intronic	ENSG00000049759	.	.	0.456861754563766	0.172
18	56063397	A	C	18	58396165	y	y	splicing	NEDD4L(NM_001144967:exon31:c.2826-2A>C;NM_001243960:exon29:c.2634-2A>C;NM_015277:exon30:c.2766-2A>C;NM_001144964:exon31:c.2463-2A>C;NM_001144968:exon31:c.2802-2A>C;NM_001144965:exon31:c.2463-2A>C;NM_001144971:exon31:c.2403-2A>C;NM_001144969:exon30:c.2742-2A>C;NM_001144970:exon29:c.2403-2A>C;NM_001144966:exon30:c.2463-2A>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon29:c.2634-2A>C;ENST00000400345:exon31:c.2826-2A>C;ENST00000589054:exon4:c.219-2A>C;ENST00000256832:exon31:c.2406-2A>C;ENST00000382850:exon30:c.2766-2A>C;ENST00000256830:exon28:c.2514-2A>C;ENST00000456986:exon31:c.2463-2A>C;ENST00000357895:exon31:c.2802-2A>C;ENST00000435432:exon31:c.2403-2A>C;ENST00000586263:exon30:c.2742-2A>C;ENST00000456173:exon29:c.2403-2A>C;ENST00000431212:exon30:c.2463-2A>C;ENST00000587881:exon20:c.1818-2A>C)	.	.	0.999988247793601	0.93
18	56063397	A	G	18	58396165	y	y	splicing	NEDD4L(NM_001144967:exon31:c.2826-2A>G;NM_001243960:exon29:c.2634-2A>G;NM_015277:exon30:c.2766-2A>G;NM_001144964:exon31:c.2463-2A>G;NM_001144968:exon31:c.2802-2A>G;NM_001144965:exon31:c.2463-2A>G;NM_001144971:exon31:c.2403-2A>G;NM_001144969:exon30:c.2742-2A>G;NM_001144970:exon29:c.2403-2A>G;NM_001144966:exon30:c.2463-2A>G)	.	.	splicing	ENSG00000049759(ENST00000356462:exon29:c.2634-2A>G;ENST00000400345:exon31:c.2826-2A>G;ENST00000589054:exon4:c.219-2A>G;ENST00000256832:exon31:c.2406-2A>G;ENST00000382850:exon30:c.2766-2A>G;ENST00000256830:exon28:c.2514-2A>G;ENST00000456986:exon31:c.2463-2A>G;ENST00000357895:exon31:c.2802-2A>G;ENST00000435432:exon31:c.2403-2A>G;ENST00000586263:exon30:c.2742-2A>G;ENST00000456173:exon29:c.2403-2A>G;ENST00000431212:exon30:c.2463-2A>G;ENST00000587881:exon20:c.1818-2A>G)	.	.	0.999988247793601	0.93
18	56063397	A	T	18	58396165	y	y	splicing	NEDD4L(NM_001144967:exon31:c.2826-2A>T;NM_001243960:exon29:c.2634-2A>T;NM_015277:exon30:c.2766-2A>T;NM_001144964:exon31:c.2463-2A>T;NM_001144968:exon31:c.2802-2A>T;NM_001144965:exon31:c.2463-2A>T;NM_001144971:exon31:c.2403-2A>T;NM_001144969:exon30:c.2742-2A>T;NM_001144970:exon29:c.2403-2A>T;NM_001144966:exon30:c.2463-2A>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon29:c.2634-2A>T;ENST00000400345:exon31:c.2826-2A>T;ENST00000589054:exon4:c.219-2A>T;ENST00000256832:exon31:c.2406-2A>T;ENST00000382850:exon30:c.2766-2A>T;ENST00000256830:exon28:c.2514-2A>T;ENST00000456986:exon31:c.2463-2A>T;ENST00000357895:exon31:c.2802-2A>T;ENST00000435432:exon31:c.2403-2A>T;ENST00000586263:exon30:c.2742-2A>T;ENST00000456173:exon29:c.2403-2A>T;ENST00000431212:exon30:c.2463-2A>T;ENST00000587881:exon20:c.1818-2A>T)	.	.	0.999988247793601	0.93
18	56063398	G	A	18	58396166	y	y	splicing	NEDD4L(NM_001144967:exon31:c.2826-1G>A;NM_001243960:exon29:c.2634-1G>A;NM_015277:exon30:c.2766-1G>A;NM_001144964:exon31:c.2463-1G>A;NM_001144968:exon31:c.2802-1G>A;NM_001144965:exon31:c.2463-1G>A;NM_001144971:exon31:c.2403-1G>A;NM_001144969:exon30:c.2742-1G>A;NM_001144970:exon29:c.2403-1G>A;NM_001144966:exon30:c.2463-1G>A)	.	.	splicing	ENSG00000049759(ENST00000356462:exon29:c.2634-1G>A;ENST00000400345:exon31:c.2826-1G>A;ENST00000589054:exon4:c.219-1G>A;ENST00000256832:exon31:c.2406-1G>A;ENST00000382850:exon30:c.2766-1G>A;ENST00000256830:exon28:c.2514-1G>A;ENST00000456986:exon31:c.2463-1G>A;ENST00000357895:exon31:c.2802-1G>A;ENST00000435432:exon31:c.2403-1G>A;ENST00000586263:exon30:c.2742-1G>A;ENST00000456173:exon29:c.2403-1G>A;ENST00000431212:exon30:c.2463-1G>A;ENST00000587881:exon20:c.1818-1G>A)	.	.	0.999990361384395	0.938
18	56063398	G	C	18	58396166	y	y	splicing	NEDD4L(NM_001144967:exon31:c.2826-1G>C;NM_001243960:exon29:c.2634-1G>C;NM_015277:exon30:c.2766-1G>C;NM_001144964:exon31:c.2463-1G>C;NM_001144968:exon31:c.2802-1G>C;NM_001144965:exon31:c.2463-1G>C;NM_001144971:exon31:c.2403-1G>C;NM_001144969:exon30:c.2742-1G>C;NM_001144970:exon29:c.2403-1G>C;NM_001144966:exon30:c.2463-1G>C)	.	.	splicing	ENSG00000049759(ENST00000356462:exon29:c.2634-1G>C;ENST00000400345:exon31:c.2826-1G>C;ENST00000589054:exon4:c.219-1G>C;ENST00000256832:exon31:c.2406-1G>C;ENST00000382850:exon30:c.2766-1G>C;ENST00000256830:exon28:c.2514-1G>C;ENST00000456986:exon31:c.2463-1G>C;ENST00000357895:exon31:c.2802-1G>C;ENST00000435432:exon31:c.2403-1G>C;ENST00000586263:exon30:c.2742-1G>C;ENST00000456173:exon29:c.2403-1G>C;ENST00000431212:exon30:c.2463-1G>C;ENST00000587881:exon20:c.1818-1G>C)	.	.	0.999990361384395	0.938
18	56063398	G	T	18	58396166	y	y	splicing	NEDD4L(NM_001144967:exon31:c.2826-1G>T;NM_001243960:exon29:c.2634-1G>T;NM_015277:exon30:c.2766-1G>T;NM_001144964:exon31:c.2463-1G>T;NM_001144968:exon31:c.2802-1G>T;NM_001144965:exon31:c.2463-1G>T;NM_001144971:exon31:c.2403-1G>T;NM_001144969:exon30:c.2742-1G>T;NM_001144970:exon29:c.2403-1G>T;NM_001144966:exon30:c.2463-1G>T)	.	.	splicing	ENSG00000049759(ENST00000356462:exon29:c.2634-1G>T;ENST00000400345:exon31:c.2826-1G>T;ENST00000589054:exon4:c.219-1G>T;ENST00000256832:exon31:c.2406-1G>T;ENST00000382850:exon30:c.2766-1G>T;ENST00000256830:exon28:c.2514-1G>T;ENST00000456986:exon31:c.2463-1G>T;ENST00000357895:exon31:c.2802-1G>T;ENST00000435432:exon31:c.2403-1G>T;ENST00000586263:exon30:c.2742-1G>T;ENST00000456173:exon29:c.2403-1G>T;ENST00000431212:exon30:c.2463-1G>T;ENST00000587881:exon20:c.1818-1G>T)	.	.	0.999990361384395	0.938
18	56063399	C	A	18	58396167	y	y	exonic	NEDD4L	stopgain SNV	NEDD4L:NM_001144969:exon30:c.C2742A:p.C914X;NEDD4L:NM_001144964:exon31:c.C2463A:p.C821X;NEDD4L:NM_015277:exon30:c.C2766A:p.C922X;NEDD4L:NM_001144967:exon31:c.C2826A:p.C942X;NEDD4L:NM_001144971:exon31:c.C2403A:p.C801X;NEDD4L:NM_001144968:exon31:c.C2802A:p.C934X;NEDD4L:NM_001144970:exon29:c.C2403A:p.C801X;NEDD4L:NM_001144965:exon31:c.C2463A:p.C821X;NEDD4L:NM_001144966:exon30:c.C2463A:p.C821X;NEDD4L:NM_001243960:exon29:c.C2634A:p.C878X;	exonic	ENSG00000049759	stopgain SNV	ENSG00000049759:ENST00000587881:exon20:c.C1818A:p.C606X;ENSG00000049759:ENST00000435432:exon31:c.C2403A:p.C801X;ENSG00000049759:ENST00000382850:exon30:c.C2766A:p.C922X;ENSG00000049759:ENST00000456986:exon31:c.C2463A:p.C821X;ENSG00000049759:ENST00000256830:exon28:c.C2514A:p.C838X;ENSG00000049759:ENST00000456173:exon29:c.C2403A:p.C801X;ENSG00000049759:ENST00000357895:exon31:c.C2802A:p.C934X;ENSG00000049759:ENST00000256832:exon31:c.C2406A:p.C802X;ENSG00000049759:ENST00000431212:exon30:c.C2463A:p.C821X;ENSG00000049759:ENST00000356462:exon29:c.C2634A:p.C878X;ENSG00000049759:ENST00000400345:exon31:c.C2826A:p.C942X;ENSG00000049759:ENST00000589054:exon4:c.C219A:p.C73X;ENSG00000049759:ENST00000586263:exon30:c.C2742A:p.C914X;	0.526650547902576	0.714
18	56063399	C	G	18	58396167	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon30:c.C2742G:p.C914W;NEDD4L:NM_001144964:exon31:c.C2463G:p.C821W;NEDD4L:NM_015277:exon30:c.C2766G:p.C922W;NEDD4L:NM_001144967:exon31:c.C2826G:p.C942W;NEDD4L:NM_001144971:exon31:c.C2403G:p.C801W;NEDD4L:NM_001144968:exon31:c.C2802G:p.C934W;NEDD4L:NM_001144970:exon29:c.C2403G:p.C801W;NEDD4L:NM_001144965:exon31:c.C2463G:p.C821W;NEDD4L:NM_001144966:exon30:c.C2463G:p.C821W;NEDD4L:NM_001243960:exon29:c.C2634G:p.C878W;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon20:c.C1818G:p.C606W;ENSG00000049759:ENST00000435432:exon31:c.C2403G:p.C801W;ENSG00000049759:ENST00000382850:exon30:c.C2766G:p.C922W;ENSG00000049759:ENST00000456986:exon31:c.C2463G:p.C821W;ENSG00000049759:ENST00000256830:exon28:c.C2514G:p.C838W;ENSG00000049759:ENST00000456173:exon29:c.C2403G:p.C801W;ENSG00000049759:ENST00000357895:exon31:c.C2802G:p.C934W;ENSG00000049759:ENST00000256832:exon31:c.C2406G:p.C802W;ENSG00000049759:ENST00000431212:exon30:c.C2463G:p.C821W;ENSG00000049759:ENST00000356462:exon29:c.C2634G:p.C878W;ENSG00000049759:ENST00000400345:exon31:c.C2826G:p.C942W;ENSG00000049759:ENST00000589054:exon4:c.C219G:p.C73W;ENSG00000049759:ENST00000586263:exon30:c.C2742G:p.C914W;	0.403225311033698	0.576
18	56063399	C	T	18	58396167	y	y	exonic	NEDD4L	synonymous SNV	NEDD4L:NM_001144969:exon30:c.C2742T:p.C914C;NEDD4L:NM_001144964:exon31:c.C2463T:p.C821C;NEDD4L:NM_015277:exon30:c.C2766T:p.C922C;NEDD4L:NM_001144967:exon31:c.C2826T:p.C942C;NEDD4L:NM_001144971:exon31:c.C2403T:p.C801C;NEDD4L:NM_001144968:exon31:c.C2802T:p.C934C;NEDD4L:NM_001144970:exon29:c.C2403T:p.C801C;NEDD4L:NM_001144965:exon31:c.C2463T:p.C821C;NEDD4L:NM_001144966:exon30:c.C2463T:p.C821C;NEDD4L:NM_001243960:exon29:c.C2634T:p.C878C;	exonic	ENSG00000049759	synonymous SNV	ENSG00000049759:ENST00000587881:exon20:c.C1818T:p.C606C;ENSG00000049759:ENST00000435432:exon31:c.C2403T:p.C801C;ENSG00000049759:ENST00000382850:exon30:c.C2766T:p.C922C;ENSG00000049759:ENST00000456986:exon31:c.C2463T:p.C821C;ENSG00000049759:ENST00000256830:exon28:c.C2514T:p.C838C;ENSG00000049759:ENST00000456173:exon29:c.C2403T:p.C801C;ENSG00000049759:ENST00000357895:exon31:c.C2802T:p.C934C;ENSG00000049759:ENST00000256832:exon31:c.C2406T:p.C802C;ENSG00000049759:ENST00000431212:exon30:c.C2463T:p.C821C;ENSG00000049759:ENST00000356462:exon29:c.C2634T:p.C878C;ENSG00000049759:ENST00000400345:exon31:c.C2826T:p.C942C;ENSG00000049759:ENST00000589054:exon4:c.C219T:p.C73C;ENSG00000049759:ENST00000586263:exon30:c.C2742T:p.C914C;	0.0421122999314473	0.266
18	56063400	T	A	18	58396168	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon30:c.T2743A:p.F915I;NEDD4L:NM_001144964:exon31:c.T2464A:p.F822I;NEDD4L:NM_015277:exon30:c.T2767A:p.F923I;NEDD4L:NM_001144967:exon31:c.T2827A:p.F943I;NEDD4L:NM_001144971:exon31:c.T2404A:p.F802I;NEDD4L:NM_001144968:exon31:c.T2803A:p.F935I;NEDD4L:NM_001144970:exon29:c.T2404A:p.F802I;NEDD4L:NM_001144965:exon31:c.T2464A:p.F822I;NEDD4L:NM_001144966:exon30:c.T2464A:p.F822I;NEDD4L:NM_001243960:exon29:c.T2635A:p.F879I;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon20:c.T1819A:p.F607I;ENSG00000049759:ENST00000435432:exon31:c.T2404A:p.F802I;ENSG00000049759:ENST00000382850:exon30:c.T2767A:p.F923I;ENSG00000049759:ENST00000456986:exon31:c.T2464A:p.F822I;ENSG00000049759:ENST00000256830:exon28:c.T2515A:p.F839I;ENSG00000049759:ENST00000456173:exon29:c.T2404A:p.F802I;ENSG00000049759:ENST00000357895:exon31:c.T2803A:p.F935I;ENSG00000049759:ENST00000256832:exon31:c.T2407A:p.F803I;ENSG00000049759:ENST00000431212:exon30:c.T2464A:p.F822I;ENSG00000049759:ENST00000356462:exon29:c.T2635A:p.F879I;ENSG00000049759:ENST00000400345:exon31:c.T2827A:p.F943I;ENSG00000049759:ENST00000589054:exon4:c.T220A:p.F74I;ENSG00000049759:ENST00000586263:exon30:c.T2743A:p.F915I;	0.540410297830809	0.692
18	56063400	T	C	18	58396168	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon30:c.T2743C:p.F915L;NEDD4L:NM_001144964:exon31:c.T2464C:p.F822L;NEDD4L:NM_015277:exon30:c.T2767C:p.F923L;NEDD4L:NM_001144967:exon31:c.T2827C:p.F943L;NEDD4L:NM_001144971:exon31:c.T2404C:p.F802L;NEDD4L:NM_001144968:exon31:c.T2803C:p.F935L;NEDD4L:NM_001144970:exon29:c.T2404C:p.F802L;NEDD4L:NM_001144965:exon31:c.T2464C:p.F822L;NEDD4L:NM_001144966:exon30:c.T2464C:p.F822L;NEDD4L:NM_001243960:exon29:c.T2635C:p.F879L;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon20:c.T1819C:p.F607L;ENSG00000049759:ENST00000435432:exon31:c.T2404C:p.F802L;ENSG00000049759:ENST00000382850:exon30:c.T2767C:p.F923L;ENSG00000049759:ENST00000456986:exon31:c.T2464C:p.F822L;ENSG00000049759:ENST00000256830:exon28:c.T2515C:p.F839L;ENSG00000049759:ENST00000456173:exon29:c.T2404C:p.F802L;ENSG00000049759:ENST00000357895:exon31:c.T2803C:p.F935L;ENSG00000049759:ENST00000256832:exon31:c.T2407C:p.F803L;ENSG00000049759:ENST00000431212:exon30:c.T2464C:p.F822L;ENSG00000049759:ENST00000356462:exon29:c.T2635C:p.F879L;ENSG00000049759:ENST00000400345:exon31:c.T2827C:p.F943L;ENSG00000049759:ENST00000589054:exon4:c.T220C:p.F74L;ENSG00000049759:ENST00000586263:exon30:c.T2743C:p.F915L;	0.499567601905002	0.686
18	56063400	T	G	18	58396168	y	y	exonic	NEDD4L	nonsynonymous SNV	NEDD4L:NM_001144969:exon30:c.T2743G:p.F915V;NEDD4L:NM_001144964:exon31:c.T2464G:p.F822V;NEDD4L:NM_015277:exon30:c.T2767G:p.F923V;NEDD4L:NM_001144967:exon31:c.T2827G:p.F943V;NEDD4L:NM_001144971:exon31:c.T2404G:p.F802V;NEDD4L:NM_001144968:exon31:c.T2803G:p.F935V;NEDD4L:NM_001144970:exon29:c.T2404G:p.F802V;NEDD4L:NM_001144965:exon31:c.T2464G:p.F822V;NEDD4L:NM_001144966:exon30:c.T2464G:p.F822V;NEDD4L:NM_001243960:exon29:c.T2635G:p.F879V;	exonic	ENSG00000049759	nonsynonymous SNV	ENSG00000049759:ENST00000587881:exon20:c.T1819G:p.F607V;ENSG00000049759:ENST00000435432:exon31:c.T2404G:p.F802V;ENSG00000049759:ENST00000382850:exon30:c.T2767G:p.F923V;ENSG00000049759:ENST00000456986:exon31:c.T2464G:p.F822V;ENSG00000049759:ENST00000256830:exon28:c.T2515G:p.F839V;ENSG00000049759:ENST00000456173:exon29:c.T2404G:p.F802V;ENSG00000049759:ENST00000357895:exon31:c.T2803G:p.F935V;ENSG00000049759:ENST00000256832:exon31:c.T2407G:p.F803V;ENSG00000049759:ENST00000431212:exon30:c.T2464G:p.F822V;ENSG00000049759:ENST00000356462:exon29:c.T2635G:p.F879V;ENSG00000049759:ENST00000400345:exon31:c.T2827G:p.F943V;ENSG00000049759:ENST00000589054:exon4:c.T220G:p.F74V;ENSG00000049759:ENST00000586263:exon30:c.T2743G:p.F915V;	0.483631393107644	0.65
18	56149270	A	C	18	58482038	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon13:c.T6298G:p.Y2100D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon13:c.T6298G:p.Y2100D;	0.89773088378333	0.428
18	56149270	A	G	18	58482038	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon13:c.T6298C:p.Y2100H;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon13:c.T6298C:p.Y2100H;	0.8820917117862	0.434
18	56149270	A	T	18	58482038	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon13:c.T6298A:p.Y2100N;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon13:c.T6298A:p.Y2100N;	0.914643647964738	0.444
18	56149271	C	A	18	58482039	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon13:c.G6297T:p.G2099G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon13:c.G6297T:p.G2099G;	0.990407970258444	0.796
18	56149271	C	G	18	58482039	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon13:c.G6297C:p.G2099G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon13:c.G6297C:p.G2099G;	0.953858529365577	0.772
18	56149271	C	T	18	58482039	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon13:c.G6297A:p.G2099G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon13:c.G6297A:p.G2099G;	0.727838662152924	0.616
18	56149272	C	A	18	58482040	y	y	splicing	ALPK2(NM_052947:exon14:c.6297-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon14:c.6297-1G>T)	.	.	0.999991412108771	0.936
18	56149272	C	G	18	58482040	y	y	splicing	ALPK2(NM_052947:exon14:c.6297-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon14:c.6297-1G>C)	.	.	0.999991412108771	0.936
18	56149272	C	T	18	58482040	y	y	splicing	ALPK2(NM_052947:exon14:c.6297-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon14:c.6297-1G>A)	.	.	0.999991412108771	0.936
18	56149273	T	A	18	58482041	y	y	splicing	ALPK2(NM_052947:exon14:c.6297-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon14:c.6297-2A>T)	.	.	0.999990764389106	0.934
18	56149273	T	C	18	58482041	y	y	splicing	ALPK2(NM_052947:exon14:c.6297-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon14:c.6297-2A>G)	.	.	0.999990764389106	0.934
18	56149273	T	G	18	58482041	y	y	splicing	ALPK2(NM_052947:exon14:c.6297-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon14:c.6297-2A>C)	.	.	0.999990764389106	0.934
18	56149274	G	A	18	58482042	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00569106561879239	0.23
18	56149274	G	C	18	58482042	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999971342819312	0.856
18	56149274	G	T	18	58482042	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.959386395956441	0.808
18	56149275	T	A	18	58482043	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.89346081159258E-4	0.08
18	56149275	T	C	18	58482043	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.16333663229882E-4	0.168
18	56149275	T	G	18	58482043	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.38021089837835E-5	0.07
18	56149276	G	A	18	58482044	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.37089930605497E-5	0.0
18	56149276	G	C	18	58482044	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.69845937863873E-4	0.08
18	56149276	G	T	18	58482044	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00136032862476837	0.116
18	56149277	A	C	18	58482045	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.492513944384384	0.53
18	56149277	A	G	18	58482045	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.93602081571678E-5	0.03
18	56149277	A	T	18	58482045	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.177666738111492	0.47
18	56149278	G	A	18	58482046	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0121066547355291	0.156
18	56149278	G	C	18	58482046	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999981956326736	0.982
18	56149278	G	T	18	58482046	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.853707712980036	0.49
18	56149279	T	A	18	58482047	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.58994482403026E-4	0.028
18	56149279	T	C	18	58482047	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999799548694399	0.962
18	56149279	T	G	18	58482047	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.08776106407067E-5	0.0
18	56149280	T	A	18	58482048	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.69908549300563E-5	0.036
18	56149280	T	C	18	58482048	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999617304568929	0.944
18	56149280	T	G	18	58482048	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.08251706151896E-5	0.01
18	56149281	T	A	18	58482049	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.79989463929114E-5	0.02
18	56149281	T	C	18	58482049	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.98992933561129E-5	0.0
18	56149281	T	G	18	58482049	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.01903784229904E-5	0.0
18	56149282	G	A	18	58482050	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0164196740821379	0.08
18	56149282	G	C	18	58482050	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.127042416307342	0.282
18	56149282	G	T	18	58482050	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0893719828003719	0.192
18	56149283	G	A	18	58482051	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0242453265293969	0.124
18	56149283	G	C	18	58482051	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.506735468243226	0.382
18	56149283	G	T	18	58482051	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.229152952250162	0.282
18	56165273	C	A	18	58498041	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.47087310278549E-4	0.014
18	56165273	C	G	18	58498041	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.47087310278549E-4	0.02
18	56165273	C	T	18	58498041	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.03358902494518E-4	0.012
18	56165274	T	A	18	58498042	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.24268202054074E-4	0.01
18	56165274	T	C	18	58498042	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.22244207639756E-4	0.0
18	56165274	T	G	18	58498042	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.05918261028706E-4	0.0
18	56165275	A	C	18	58498043	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.985734339638633	0.73
18	56165275	A	G	18	58498043	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.98667609367045	0.668
18	56165275	A	T	18	58498043	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.991141005729656	0.828
18	56165276	C	A	18	58498044	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999925032913869	0.746
18	56165276	C	G	18	58498044	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999889531767399	0.972
18	56165276	C	T	18	58498044	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999942203789231	0.874
18	56165277	T	A	18	58498045	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999541660640716	0.91
18	56165277	T	C	18	58498045	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999650497140317	0.882
18	56165277	T	G	18	58498045	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999147633077058	0.854
18	56165278	C	A	18	58498046	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.320093365326864	0.542
18	56165278	C	G	18	58498046	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.764559918072441	0.578
18	56165278	C	T	18	58498046	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.48696450019006E-5	0.0
18	56165279	A	C	18	58498047	y	y	splicing	ALPK2(NM_052947:exon13:c.6296+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6296+2T>G)	.	.	0.999988247793601	0.932
18	56165279	A	G	18	58498047	y	y	splicing	ALPK2(NM_052947:exon13:c.6296+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6296+2T>C)	.	.	0.999929727175276	0.87
18	56165279	A	T	18	58498047	y	y	splicing	ALPK2(NM_052947:exon13:c.6296+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6296+2T>A)	.	.	0.999988247793601	0.932
18	56165280	C	A	18	58498048	y	y	splicing	ALPK2(NM_052947:exon13:c.6296+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6296+1G>T)	.	.	0.999990361384395	0.938
18	56165280	C	G	18	58498048	y	y	splicing	ALPK2(NM_052947:exon13:c.6296+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6296+1G>C)	.	.	0.999990361384395	0.938
18	56165280	C	T	18	58498048	y	y	splicing	ALPK2(NM_052947:exon13:c.6296+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6296+1G>A)	.	.	0.999990361384395	0.938
18	56165281	C	A	18	58498049	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6296T:p.G2099V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6296T:p.G2099V;	0.999938520324102	0.938
18	56165281	C	G	18	58498049	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6296C:p.G2099A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6296C:p.G2099A;	0.999980561554849	0.976
18	56165281	C	T	18	58498049	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6296A:p.G2099E;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6296A:p.G2099E;	0.999952816520403	0.976
18	56165282	C	A	18	58498050	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6295T:p.G2099W;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6295T:p.G2099W;	0.993891027936336	0.876
18	56165282	C	G	18	58498050	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6295C:p.G2099R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6295C:p.G2099R;	0.995876797705294	0.746
18	56165282	C	T	18	58498050	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6295A:p.G2099R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6295A:p.G2099R;	0.975531769689277	0.648
18	56165283	T	A	18	58498051	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.A6294T:p.K2098N;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.A6294T:p.K2098N;	0.963302723499535	0.482
18	56165283	T	C	18	58498051	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon12:c.A6294G:p.K2098K;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.A6294G:p.K2098K;	0.19785103780134	0.394
18	56165283	T	G	18	58498051	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.A6294C:p.K2098N;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.A6294C:p.K2098N;	0.825187431106725	0.548
18	56165328	A	C	18	58498096	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon12:c.T6249G:p.G2083G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.T6249G:p.G2083G;	2.23609248509611E-4	0.006
18	56165328	A	G	18	58498096	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon12:c.T6249C:p.G2083G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.T6249C:p.G2083G;	2.23609248509611E-4	0.02
18	56165328	A	T	18	58498096	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon12:c.T6249A:p.G2083G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.T6249A:p.G2083G;	2.19371713030136E-4	0.016
18	56165329	C	A	18	58498097	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6248T:p.G2083V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6248T:p.G2083V;	0.998799756277419	0.82
18	56165329	C	G	18	58498097	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6248C:p.G2083A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6248C:p.G2083A;	0.999069916930359	0.868
18	56165329	C	T	18	58498097	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon12:c.G6248A:p.G2083D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon12:c.G6248A:p.G2083D;	0.99768164626376	0.804
18	56165330	C	A	18	58498098	y	y	splicing	ALPK2(NM_052947:exon13:c.6248-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6248-1G>T)	.	.	0.999990361384395	0.938
18	56165330	C	G	18	58498098	y	y	splicing	ALPK2(NM_052947:exon13:c.6248-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6248-1G>C)	.	.	0.999990361384395	0.938
18	56165330	C	T	18	58498098	y	y	splicing	ALPK2(NM_052947:exon13:c.6248-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6248-1G>A)	.	.	0.999990361384395	0.938
18	56165331	T	A	18	58498099	y	y	splicing	ALPK2(NM_052947:exon13:c.6248-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6248-2A>T)	.	.	0.999986607513753	0.92
18	56165331	T	C	18	58498099	y	y	splicing	ALPK2(NM_052947:exon13:c.6248-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6248-2A>G)	.	.	0.999986607513753	0.92
18	56165331	T	G	18	58498099	y	y	splicing	ALPK2(NM_052947:exon13:c.6248-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon13:c.6248-2A>C)	.	.	0.999986607513753	0.92
18	56165332	A	C	18	58498100	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.929437665417966	0.532
18	56165332	A	G	18	58498100	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.27337547137365E-5	0.016
18	56165332	A	T	18	58498100	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00198069493262528	0.164
18	56165333	C	A	18	58498101	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.69299029544121E-4	0.042
18	56165333	C	G	18	58498101	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.58119775575058E-4	0.056
18	56165333	C	T	18	58498101	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.15400081071628E-4	0.034
18	56165334	A	C	18	58498102	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.97109524101278E-4	0.174
18	56165334	A	G	18	58498102	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.32137722276871E-4	0.028
18	56165334	A	T	18	58498102	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.985446253952705	0.656
18	56165335	G	A	18	58498103	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.37294453205896E-5	0.026
18	56165335	G	C	18	58498103	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0021043341325131	0.152
18	56165335	G	T	18	58498103	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.29434692723573E-4	0.15
18	56165336	G	A	18	58498104	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.23998079190762E-4	0.014
18	56165336	G	C	18	58498104	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.06560406073783E-4	0.094
18	56165336	G	T	18	58498104	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.06560406073783E-4	0.114
18	56165337	A	C	18	58498105	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.68207092880175E-4	0.042
18	56165337	A	G	18	58498105	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.74814543772695E-5	0.018
18	56165337	A	T	18	58498105	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.57830249392553E-4	0.028
18	56165338	A	C	18	58498106	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.00253116065101E-4	0.086
18	56165338	A	G	18	58498106	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.3554125016552E-4	0.004
18	56165338	A	T	18	58498106	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.27168469777812E-4	0.094
18	56165339	G	A	18	58498107	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.18372185015676E-4	0.004
18	56165339	G	C	18	58498107	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00174137535157651	0.038
18	56165339	G	T	18	58498107	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00218132167102561	0.054
18	56165340	A	C	18	58498108	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00547745798140709	0.228
18	56165340	A	G	18	58498108	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00617779637661705	0.096
18	56165340	A	T	18	58498108	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0100324584146695	0.272
18	56165341	G	A	18	58498109	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.38107944748221E-4	0.014
18	56165341	G	C	18	58498109	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00115418771901123	0.064
18	56165341	G	T	18	58498109	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00261923162157071	0.09
18	56171155	T	A	18	58503923	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.40897538029672E-4	0.056
18	56171155	T	C	18	58503923	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.48816784244614E-4	0.086
18	56171155	T	G	18	58503923	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.48816784244614E-4	0.09
18	56171156	T	A	18	58503924	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.0332992724451E-4	0.046
18	56171156	T	C	18	58503924	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.46097810010715E-5	0.01
18	56171156	T	G	18	58503924	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.07839815886745E-4	0.008
18	56171157	C	A	18	58503925	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.47500095039989E-5	0.004
18	56171157	C	G	18	58503925	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.55207844873576E-4	0.018
18	56171157	C	T	18	58503925	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.43366959073083E-4	0.008
18	56171158	C	A	18	58503926	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999520191965742	0.904
18	56171158	C	G	18	58503926	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.988007522579425	0.744
18	56171158	C	T	18	58503926	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999051288696278	0.916
18	56171159	T	A	18	58503927	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998380222969551	0.86
18	56171159	T	C	18	58503927	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998190345864711	0.864
18	56171159	T	G	18	58503927	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.963005738340933	0.716
18	56171160	C	A	18	58503928	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.579165684899378	0.58
18	56171160	C	G	18	58503928	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.758806209215676	0.668
18	56171160	C	T	18	58503928	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.26723613321225E-4	0.028
18	56171161	A	C	18	58503929	y	y	splicing	ALPK2(NM_052947:exon12:c.6247+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6247+2T>G)	.	.	0.999988247793601	0.928
18	56171161	A	G	18	58503929	y	y	splicing	ALPK2(NM_052947:exon12:c.6247+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6247+2T>C)	.	.	0.999943260809542	0.87
18	56171161	A	T	18	58503929	y	y	splicing	ALPK2(NM_052947:exon12:c.6247+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6247+2T>A)	.	.	0.999988247793601	0.928
18	56171162	C	A	18	58503930	y	y	splicing	ALPK2(NM_052947:exon12:c.6247+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6247+1G>T)	.	.	0.999985532734767	0.938
18	56171162	C	G	18	58503930	y	y	splicing	ALPK2(NM_052947:exon12:c.6247+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6247+1G>C)	.	.	0.999985532734767	0.938
18	56171162	C	T	18	58503930	y	y	splicing	ALPK2(NM_052947:exon12:c.6247+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6247+1G>A)	.	.	0.999985532734767	0.938
18	56171163	C	A	18	58503931	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.G6247T:p.G2083C;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.G6247T:p.G2083C;	0.999938081833706	1.0
18	56171163	C	G	18	58503931	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.G6247C:p.G2083R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.G6247C:p.G2083R;	0.999982816093496	1.0
18	56171163	C	T	18	58503931	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.G6247A:p.G2083S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.G6247A:p.G2083S;	0.999903513492923	0.98
18	56171164	T	A	18	58503932	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.A6246T:p.Q2082H;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6246T:p.Q2082H;	0.728042624640749	0.572
18	56171164	T	C	18	58503932	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon11:c.A6246G:p.Q2082Q;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6246G:p.Q2082Q;	0.557719691355613	0.548
18	56171164	T	G	18	58503932	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.A6246C:p.Q2082H;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6246C:p.Q2082H;	0.226545494102887	0.578
18	56171165	T	A	18	58503933	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.A6245T:p.Q2082L;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6245T:p.Q2082L;	0.965239689281897	0.642
18	56171165	T	C	18	58503933	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.A6245G:p.Q2082R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6245G:p.Q2082R;	0.20070961043717	0.402
18	56171165	T	G	18	58503933	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.A6245C:p.Q2082P;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6245C:p.Q2082P;	0.663828089645991	0.534
18	56171379	T	A	18	58504147	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.A6031T:p.I2011F;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6031T:p.I2011F;	0.79328513673397	0.73
18	56171379	T	C	18	58504147	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.A6031G:p.I2011V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6031G:p.I2011V;	0.65098007474162	0.678
18	56171379	T	G	18	58504147	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.A6031C:p.I2011L;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.A6031C:p.I2011L;	0.875423793586756	0.816
18	56171380	C	A	18	58504148	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.G6030T:p.E2010D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.G6030T:p.E2010D;	0.999612814728475	0.99
18	56171380	C	G	18	58504148	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.G6030C:p.E2010D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.G6030C:p.E2010D;	0.999163450174026	0.978
18	56171380	C	T	18	58504148	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon11:c.G6030A:p.E2010E;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon11:c.G6030A:p.E2010E;	0.746248534929335	0.548
18	56171381	C	A	18	58504149	y	y	splicing	ALPK2(NM_052947:exon12:c.6030-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6030-1G>T)	.	.	0.999985532734767	0.938
18	56171381	C	G	18	58504149	y	y	splicing	ALPK2(NM_052947:exon12:c.6030-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6030-1G>C)	.	.	0.999985532734767	0.938
18	56171381	C	T	18	58504149	y	y	splicing	ALPK2(NM_052947:exon12:c.6030-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6030-1G>A)	.	.	0.999985532734767	0.938
18	56171382	T	A	18	58504150	y	y	splicing	ALPK2(NM_052947:exon12:c.6030-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6030-2A>T)	.	.	0.999988247793601	0.928
18	56171382	T	C	18	58504150	y	y	splicing	ALPK2(NM_052947:exon12:c.6030-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6030-2A>G)	.	.	0.999988247793601	0.928
18	56171382	T	G	18	58504150	y	y	splicing	ALPK2(NM_052947:exon12:c.6030-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon12:c.6030-2A>C)	.	.	0.999988247793601	0.928
18	56171383	G	A	18	58504151	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00270395269819635	0.114
18	56171383	G	C	18	58504151	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.971195714802642	0.808
18	56171383	G	T	18	58504151	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.947350701591034	0.69
18	56171384	G	A	18	58504152	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.09729560784291E-4	0.066
18	56171384	G	C	18	58504152	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.24955076661464E-4	0.062
18	56171384	G	T	18	58504152	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.84095645525754E-4	0.052
18	56171385	C	A	18	58504153	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.75693776376732E-5	0.0
18	56171385	C	G	18	58504153	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.23446996518909E-5	0.0
18	56171385	C	T	18	58504153	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.68837989992245E-5	0.002
18	56171386	A	C	18	58504154	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.64442928029814E-4	0.078
18	56171386	A	G	18	58504154	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.9627677753693E-5	0.006
18	56171386	A	T	18	58504154	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999657160378768	0.96
18	56171387	G	A	18	58504155	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.14025958801221E-5	0.008
18	56171387	G	C	18	58504155	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0013751499539198	0.096
18	56171387	G	T	18	58504155	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00292639549818685	0.116
18	56171388	G	A	18	58504156	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.4636987742894E-4	0.062
18	56171388	G	C	18	58504156	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0135183148192026	0.17
18	56171388	G	T	18	58504156	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0198074796849327	0.132
18	56171389	G	A	18	58504157	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.05398581727235E-5	0.014
18	56171389	G	C	18	58504157	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.50076876763453E-4	0.01
18	56171389	G	T	18	58504157	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0010607707398152	0.03
18	56171390	A	C	18	58504158	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00319320027117471	0.058
18	56171390	A	G	18	58504158	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.81195140970562E-4	0.006
18	56171390	A	T	18	58504158	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0102237217680696	0.118
18	56171391	A	C	18	58504159	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00564759424563089	0.288
18	56171391	A	G	18	58504159	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00103758962338387	0.184
18	56171391	A	T	18	58504159	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00127095695236597	0.212
18	56171392	G	A	18	58504160	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.60244233753323E-4	0.0
18	56171392	G	C	18	58504160	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00234331783183124	0.04
18	56171392	G	T	18	58504160	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00547825674175521	0.082
18	56182217	A	C	18	58514985	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.64344980152544E-5	0.018
18	56182217	A	G	18	58514985	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.5993950742473E-5	0.018
18	56182217	A	T	18	58514985	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.64344980152544E-5	0.018
18	56182218	C	A	18	58514986	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.97272695342835E-5	0.006
18	56182218	C	G	18	58514986	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.43815337899453E-4	0.016
18	56182218	C	T	18	58514986	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.99551177375873E-5	0.004
18	56182219	A	C	18	58514987	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.996608132341029	0.862
18	56182219	A	G	18	58514987	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.995193444696466	0.868
18	56182219	A	T	18	58514987	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.985719240340796	0.81
18	56182220	C	A	18	58514988	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.99997315386389	0.998
18	56182220	C	G	18	58514988	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999980740359248	0.994
18	56182220	C	T	18	58514988	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999980740359248	0.996
18	56182221	T	A	18	58514989	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999704414672236	0.888
18	56182221	T	C	18	58514989	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999483640833314	0.972
18	56182221	T	G	18	58514989	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999530823967337	0.88
18	56182222	T	A	18	58514990	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999761776339101	0.886
18	56182222	T	C	18	58514990	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0678083911818363	0.464
18	56182222	T	G	18	58514990	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999761776339101	0.866
18	56182223	A	C	18	58514991	y	y	splicing	ALPK2(NM_052947:exon11:c.6029+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.6029+2T>G)	.	.	0.999988247793601	0.93
18	56182223	A	G	18	58514991	y	y	splicing	ALPK2(NM_052947:exon11:c.6029+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.6029+2T>C)	.	.	0.998634858532458	0.846
18	56182223	A	T	18	58514991	y	y	splicing	ALPK2(NM_052947:exon11:c.6029+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.6029+2T>A)	.	.	0.999988247793601	0.93
18	56182224	C	A	18	58514992	y	y	splicing	ALPK2(NM_052947:exon11:c.6029+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.6029+1G>T)	.	.	0.999990361384395	0.938
18	56182224	C	G	18	58514992	y	y	splicing	ALPK2(NM_052947:exon11:c.6029+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.6029+1G>C)	.	.	0.999990361384395	0.938
18	56182224	C	T	18	58514992	y	y	splicing	ALPK2(NM_052947:exon11:c.6029+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.6029+1G>A)	.	.	0.999990361384395	0.938
18	56182225	T	A	18	58514993	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.A6029T:p.E2010V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.A6029T:p.E2010V;	0.888553384630051	0.734
18	56182225	T	C	18	58514993	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.A6029G:p.E2010G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.A6029G:p.E2010G;	0.404320006874892	0.38
18	56182225	T	G	18	58514993	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.A6029C:p.E2010A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.A6029C:p.E2010A;	0.887484353736712	0.844
18	56182226	C	A	18	58514994	y	y	exonic	ALPK2	stopgain SNV	ALPK2:NM_052947:exon10:c.G6028T:p.E2010X;	exonic	ENSG00000198796	stopgain SNV	ENSG00000198796:ENST00000361673:exon10:c.G6028T:p.E2010X;	0.992892110950287	0.892
18	56182226	C	G	18	58514994	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.G6028C:p.E2010Q;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.G6028C:p.E2010Q;	0.994825773803621	0.892
18	56182226	C	T	18	58514994	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.G6028A:p.E2010K;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.G6028A:p.E2010K;	0.978362258639837	0.71
18	56182227	A	C	18	58514995	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon10:c.T6027G:p.P2009P;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.T6027G:p.P2009P;	4.42349473678311E-5	0.008
18	56182227	A	G	18	58514995	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon10:c.T6027C:p.P2009P;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.T6027C:p.P2009P;	2.95117205113051E-5	0.0
18	56182227	A	T	18	58514995	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon10:c.T6027A:p.P2009P;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.T6027A:p.P2009P;	2.7877682844772E-5	0.006
18	56182312	T	A	18	58515080	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.A5942T:p.E1981V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.A5942T:p.E1981V;	0.919482099978796	0.77
18	56182312	T	C	18	58515080	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.A5942G:p.E1981G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.A5942G:p.E1981G;	0.959385519204255	0.658
18	56182312	T	G	18	58515080	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.A5942C:p.E1981A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.A5942C:p.E1981A;	0.913318085137093	0.772
18	56182313	C	A	18	58515081	y	y	exonic	ALPK2	stopgain SNV	ALPK2:NM_052947:exon10:c.G5941T:p.E1981X;	exonic	ENSG00000198796	stopgain SNV	ENSG00000198796:ENST00000361673:exon10:c.G5941T:p.E1981X;	0.999979798408852	0.99
18	56182313	C	G	18	58515081	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.G5941C:p.E1981Q;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.G5941C:p.E1981Q;	0.999958227382845	0.976
18	56182313	C	T	18	58515081	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon10:c.G5941A:p.E1981K;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon10:c.G5941A:p.E1981K;	0.999903008405879	0.952
18	56182314	C	A	18	58515082	y	y	splicing	ALPK2(NM_052947:exon11:c.5941-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.5941-1G>T)	.	.	0.999992425382947	0.94
18	56182314	C	G	18	58515082	y	y	splicing	ALPK2(NM_052947:exon11:c.5941-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.5941-1G>C)	.	.	0.999992425382947	0.94
18	56182314	C	T	18	58515082	y	y	splicing	ALPK2(NM_052947:exon11:c.5941-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.5941-1G>A)	.	.	0.999992425382947	0.94
18	56182315	T	A	18	58515083	y	y	splicing	ALPK2(NM_052947:exon11:c.5941-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.5941-2A>T)	.	.	0.999990764389106	0.94
18	56182315	T	C	18	58515083	y	y	splicing	ALPK2(NM_052947:exon11:c.5941-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.5941-2A>G)	.	.	0.999990764389106	0.934
18	56182315	T	G	18	58515083	y	y	splicing	ALPK2(NM_052947:exon11:c.5941-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon11:c.5941-2A>C)	.	.	0.999990764389106	0.934
18	56182316	A	C	18	58515084	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.804934110581204	0.59
18	56182316	A	G	18	58515084	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.87075934929647E-5	0.0
18	56182316	A	T	18	58515084	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.023995211937811	0.282
18	56182317	T	A	18	58515085	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.8592549320599E-5	0.002
18	56182317	T	C	18	58515085	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.74276043599608E-4	0.042
18	56182317	T	G	18	58515085	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.71123644226166E-5	0.03
18	56182318	A	C	18	58515086	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999569644049327	0.96
18	56182318	A	G	18	58515086	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00385804217659487	0.14
18	56182318	A	T	18	58515086	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.277880013216498	0.498
18	56182319	T	A	18	58515087	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.80232452370968E-5	0.032
18	56182319	T	C	18	58515087	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.33204470389446E-5	0.016
18	56182319	T	G	18	58515087	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.16401692457836E-5	0.008
18	56182320	C	A	18	58515088	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.11220052291918E-4	0.024
18	56182320	C	G	18	58515088	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.08961431456978E-4	0.014
18	56182320	C	T	18	58515088	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00173939891209332	0.05
18	56182321	G	A	18	58515089	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.59680253730282E-5	0.0
18	56182321	G	C	18	58515089	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0031739248969601	0.148
18	56182321	G	T	18	58515089	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999835486035769	0.974
18	56182322	C	A	18	58515090	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.58125889218363E-5	0.008
18	56182322	C	G	18	58515090	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.58125889218363E-5	0.002
18	56182322	C	T	18	58515090	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.701852004157E-4	0.01
18	56182323	C	A	18	58515091	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00342946415668382	0.052
18	56182323	C	G	18	58515091	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00270481219911381	0.056
18	56182323	C	T	18	58515091	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999911236029257	0.97
18	56182324	A	C	18	58515092	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.275484656417005	0.384
18	56182324	A	G	18	58515092	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.47155634883016E-4	0.06
18	56182324	A	T	18	58515092	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.997298549727708	0.862
18	56182325	A	C	18	58515093	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0110794381770541	0.398
18	56182325	A	G	18	58515093	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00218644800973467	0.106
18	56182325	A	T	18	58515093	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.086141841824887	0.514
18	56184132	G	A	18	58516900	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.82257985559896E-5	0.0
18	56184132	G	C	18	58516900	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.39598105393631E-5	0.134
18	56184132	G	T	18	58516900	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.82257985559896E-5	0.002
18	56184133	G	A	18	58516901	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.20145551737977E-4	0.062
18	56184133	G	C	18	58516901	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.04144036751766E-5	0.032
18	56184133	G	T	18	58516901	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.44387517607516E-5	0.002
18	56184134	A	C	18	58516902	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00374569072239732	0.108
18	56184134	A	G	18	58516902	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0069613457838116	0.088
18	56184134	A	T	18	58516902	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0113138656523423	0.094
18	56184135	C	A	18	58516903	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998941551658219	0.78
18	56184135	C	G	18	58516903	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999945071527904	0.906
18	56184135	C	T	18	58516903	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.997290104063239	0.938
18	56184136	C	A	18	58516904	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00123091508310315	0.072
18	56184136	C	G	18	58516904	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.89795860944557E-4	0.074
18	56184136	C	T	18	58516904	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.72835080144962E-4	0.096
18	56184137	C	A	18	58516905	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0137477230528218	0.284
18	56184137	C	G	18	58516905	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0101150164362065	0.34
18	56184137	C	T	18	58516905	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.41889497402007E-4	0.088
18	56184138	A	C	18	58516906	y	y	splicing	ALPK2(NM_052947:exon10:c.5940+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5940+2T>G)	.	.	0.999988247793601	0.926
18	56184138	A	G	18	58516906	y	y	splicing	ALPK2(NM_052947:exon10:c.5940+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5940+2T>C)	.	.	0.999929727175276	0.862
18	56184138	A	T	18	58516906	y	y	splicing	ALPK2(NM_052947:exon10:c.5940+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5940+2T>A)	.	.	0.999988247793601	0.926
18	56184139	C	A	18	58516907	y	y	splicing	ALPK2(NM_052947:exon10:c.5940+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5940+1G>T)	.	.	0.999985532734767	0.936
18	56184139	C	G	18	58516907	y	y	splicing	ALPK2(NM_052947:exon10:c.5940+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5940+1G>C)	.	.	0.999985532734767	0.936
18	56184139	C	T	18	58516907	y	y	splicing	ALPK2(NM_052947:exon10:c.5940+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5940+1G>A)	.	.	0.999985532734767	0.932
18	56184140	C	A	18	58516908	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.G5940T:p.Q1980H;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.G5940T:p.Q1980H;	0.999977131255138	0.948
18	56184140	C	G	18	58516908	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.G5940C:p.Q1980H;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.G5940C:p.Q1980H;	0.99998539339501	0.992
18	56184140	C	T	18	58516908	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon9:c.G5940A:p.Q1980Q;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.G5940A:p.Q1980Q;	0.999355736066037	0.982
18	56184141	T	A	18	58516909	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.A5939T:p.Q1980L;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.A5939T:p.Q1980L;	0.9998834392506	1.0
18	56184141	T	C	18	58516909	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.A5939G:p.Q1980R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.A5939G:p.Q1980R;	0.999880830715922	0.998
18	56184141	T	G	18	58516909	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.A5939C:p.Q1980P;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.A5939C:p.Q1980P;	0.999415936215933	0.974
18	56184142	G	A	18	58516910	y	y	exonic	ALPK2	stopgain SNV	ALPK2:NM_052947:exon9:c.C5938T:p.Q1980X;	exonic	ENSG00000198796	stopgain SNV	ENSG00000198796:ENST00000361673:exon9:c.C5938T:p.Q1980X;	0.998272132390638	0.896
18	56184142	G	C	18	58516910	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.C5938G:p.Q1980E;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.C5938G:p.Q1980E;	0.749067159556093	0.608
18	56184142	G	T	18	58516910	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.C5938A:p.Q1980K;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.C5938A:p.Q1980K;	0.903098138584014	0.76
18	56184413	T	A	18	58517181	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon9:c.A5667T:p.G1889G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.A5667T:p.G1889G;	4.4547767073454E-5	0.0
18	56184413	T	C	18	58517181	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon9:c.A5667G:p.G1889G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.A5667G:p.G1889G;	1.08948972541951E-4	0.02
18	56184413	T	G	18	58517181	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon9:c.A5667C:p.G1889G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.A5667C:p.G1889G;	1.0321444538735E-4	0.028
18	56184414	C	A	18	58517182	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.G5666T:p.G1889V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.G5666T:p.G1889V;	0.998862312467834	0.974
18	56184414	C	G	18	58517182	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.G5666C:p.G1889A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.G5666C:p.G1889A;	0.997967565675468	0.95
18	56184414	C	T	18	58517182	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon9:c.G5666A:p.G1889E;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon9:c.G5666A:p.G1889E;	0.951972541966458	0.588
18	56184415	C	A	18	58517183	y	y	splicing	ALPK2(NM_052947:exon10:c.5666-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5666-1G>T)	.	.	0.999991562287573	0.95
18	56184415	C	G	18	58517183	y	y	splicing	ALPK2(NM_052947:exon10:c.5666-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5666-1G>C)	.	.	0.999991562287573	0.95
18	56184415	C	T	18	58517183	y	y	splicing	ALPK2(NM_052947:exon10:c.5666-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5666-1G>A)	.	.	0.999991562287573	0.95
18	56184416	T	A	18	58517184	y	y	splicing	ALPK2(NM_052947:exon10:c.5666-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5666-2A>T)	.	.	0.999990764389106	0.944
18	56184416	T	C	18	58517184	y	y	splicing	ALPK2(NM_052947:exon10:c.5666-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5666-2A>G)	.	.	0.999990764389106	0.944
18	56184416	T	G	18	58517184	y	y	splicing	ALPK2(NM_052947:exon10:c.5666-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon10:c.5666-2A>C)	.	.	0.999990764389106	0.944
18	56184417	G	A	18	58517185	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.4646911328835E-4	0.072
18	56184417	G	C	18	58517185	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998514803119136	0.784
18	56184417	G	T	18	58517185	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.565826131373616	0.502
18	56184418	A	C	18	58517186	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.39312919748274E-4	0.056
18	56184418	A	G	18	58517186	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.2068770498979E-5	0.05
18	56184418	A	T	18	58517186	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.00282192542941E-4	0.112
18	56184419	A	C	18	58517187	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999933819072288	0.936
18	56184419	A	G	18	58517187	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.959138293595999	0.614
18	56184419	A	T	18	58517187	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999965369121394	0.94
18	56184420	A	C	18	58517188	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.90626018899498	0.692
18	56184420	A	G	18	58517188	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00298274215688647	0.188
18	56184420	A	T	18	58517188	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.972495005217828	0.692
18	56184421	C	A	18	58517189	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.02838182667805E-4	0.012
18	56184421	C	G	18	58517189	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.74793281631577E-5	0.002
18	56184421	C	T	18	58517189	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00447955678547319	0.158
18	56184422	A	C	18	58517190	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.953580315204258	0.778
18	56184422	A	G	18	58517190	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0106856740382567	0.15
18	56184422	A	T	18	58517190	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999974058378557	0.98
18	56184423	C	A	18	58517191	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.76675478159088E-5	0.038
18	56184423	C	G	18	58517191	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.76675478159088E-5	0.024
18	56184423	C	T	18	58517191	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.78952230262823E-4	0.102
18	56184424	A	C	18	58517192	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.89935365840786	0.616
18	56184424	A	G	18	58517192	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00932135629730149	0.122
18	56184424	A	T	18	58517192	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999978059747169	0.976
18	56184425	G	A	18	58517193	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.018242004773996	0.192
18	56184425	G	C	18	58517193	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0325926754529288	0.118
18	56184425	G	T	18	58517193	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0537417132760232	0.16
18	56184426	C	A	18	58517194	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.15259289446143E-4	0.024
18	56184426	C	G	18	58517194	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.49245232887978E-4	0.002
18	56184426	C	T	18	58517194	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00763751576827531	0.15
18	56191030	T	A	18	58523798	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.10551936489788E-6	0.002
18	56191030	T	C	18	58523798	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.10551936489788E-6	0.0
18	56191030	T	G	18	58523798	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.10551936489788E-6	0.0
18	56191031	G	A	18	58523799	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.23990001900786E-4	0.0
18	56191031	G	C	18	58523799	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.86359644168464E-5	0.0
18	56191031	G	T	18	58523799	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.23990001900786E-4	0.004
18	56191032	A	C	18	58523800	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.72364709013189E-4	0.014
18	56191032	A	G	18	58523800	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.72714665586296E-4	0.014
18	56191032	A	T	18	58523800	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.14003713827196E-4	0.036
18	56191033	C	A	18	58523801	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.425350674719713	0.422
18	56191033	C	G	18	58523801	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.317641893016605	0.396
18	56191033	C	T	18	58523801	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.427485714706072	0.416
18	56191034	T	A	18	58523802	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.160045258179619	0.406
18	56191034	T	C	18	58523802	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.171570234939193	0.352
18	56191034	T	G	18	58523802	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0637552802966138	0.386
18	56191035	T	A	18	58523803	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.102682712001316	0.424
18	56191035	T	C	18	58523803	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.054555208762E-4	0.074
18	56191035	T	G	18	58523803	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.094177620508363	0.448
18	56191036	A	C	18	58523804	y	y	splicing	ALPK2(NM_052947:exon9:c.5665+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5665+2T>G)	.	.	0.999982151912279	0.892
18	56191036	A	G	18	58523804	y	y	splicing	ALPK2(NM_052947:exon9:c.5665+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5665+2T>C)	.	.	0.978394031422725	0.562
18	56191036	A	T	18	58523804	y	y	splicing	ALPK2(NM_052947:exon9:c.5665+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5665+2T>A)	.	.	0.99997739437695	0.93
18	56191037	C	A	18	58523805	y	y	splicing	ALPK2(NM_052947:exon9:c.5665+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5665+1G>T)	.	.	0.999945520654368	0.946
18	56191037	C	G	18	58523805	y	y	splicing	ALPK2(NM_052947:exon9:c.5665+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5665+1G>C)	.	.	0.999925439713521	0.896
18	56191037	C	T	18	58523805	y	y	splicing	ALPK2(NM_052947:exon9:c.5665+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5665+1G>A)	.	.	0.999945520654368	0.948
18	56191038	C	A	18	58523806	y	y	exonic	ALPK2	stopgain SNV	ALPK2:NM_052947:exon8:c.G5665T:p.G1889X;	exonic	ENSG00000198796	stopgain SNV	ENSG00000198796:ENST00000361673:exon8:c.G5665T:p.G1889X;	0.999077729509327	0.85
18	56191038	C	G	18	58523806	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.G5665C:p.G1889R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.G5665C:p.G1889R;	0.9952087530914	0.9
18	56191038	C	T	18	58523806	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.G5665A:p.G1889R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.G5665A:p.G1889R;	0.997817016232886	0.872
18	56191039	T	A	18	58523807	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.A5664T:p.K1888N;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.A5664T:p.K1888N;	0.397347644221039	0.458
18	56191039	T	C	18	58523807	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon8:c.A5664G:p.K1888K;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.A5664G:p.K1888K;	0.194273797538119	0.292
18	56191039	T	G	18	58523807	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.A5664C:p.K1888N;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.A5664C:p.K1888N;	0.424544225251726	0.49
18	56191040	T	A	18	58523808	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.A5663T:p.K1888I;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.A5663T:p.K1888I;	9.37466881982311E-4	0.108
18	56191040	T	C	18	58523808	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.A5663G:p.K1888R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.A5663G:p.K1888R;	5.73114668124681E-5	0.0
18	56191040	T	G	18	58523808	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.A5663C:p.K1888T;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.A5663C:p.K1888T;	1.98779694032224E-5	0.0
18	56191072	A	C	18	58523840	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon8:c.T5631G:p.V1877V;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.T5631G:p.V1877V;	9.87643643530617E-4	0.002
18	56191072	A	G	18	58523840	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon8:c.T5631C:p.V1877V;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.T5631C:p.V1877V;	7.83139964533661E-4	0.012
18	56191072	A	T	18	58523840	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon8:c.T5631A:p.V1877V;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.T5631A:p.V1877V;	0.00123298663124391	0.05
18	56191073	A	C	18	58523841	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.T5630G:p.V1877G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.T5630G:p.V1877G;	0.0136717675951894	0.228
18	56191073	A	G	18	58523841	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.T5630C:p.V1877A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.T5630C:p.V1877A;	0.243573053548056	0.37
18	56191073	A	T	18	58523841	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon8:c.T5630A:p.V1877D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon8:c.T5630A:p.V1877D;	0.035576600717128	0.342
18	56191074	C	A	18	58523842	y	y	splicing	ALPK2(NM_052947:exon9:c.5630-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5630-1G>T)	.	.	0.999981760802075	0.944
18	56191074	C	G	18	58523842	y	y	splicing	ALPK2(NM_052947:exon9:c.5630-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5630-1G>C)	.	.	0.999981760802075	0.944
18	56191074	C	T	18	58523842	y	y	splicing	ALPK2(NM_052947:exon9:c.5630-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5630-1G>A)	.	.	0.999981760802075	0.944
18	56191075	T	A	18	58523843	y	y	splicing	ALPK2(NM_052947:exon9:c.5630-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5630-2A>T)	.	.	0.999989917668626	0.928
18	56191075	T	C	18	58523843	y	y	splicing	ALPK2(NM_052947:exon9:c.5630-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5630-2A>G)	.	.	0.999989917668626	0.928
18	56191075	T	G	18	58523843	y	y	splicing	ALPK2(NM_052947:exon9:c.5630-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon9:c.5630-2A>C)	.	.	0.999989917668626	0.928
18	56191076	A	C	18	58523844	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.995213040442301	0.7
18	56191076	A	G	18	58523844	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.2498595281445E-4	0.004
18	56191076	A	T	18	58523844	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0651562557211549	0.276
18	56191077	G	A	18	58523845	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00207604836416629	0.036
18	56191077	G	C	18	58523845	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00325493358488216	0.11
18	56191077	G	T	18	58523845	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00177516275495945	0.06
18	56191078	A	C	18	58523846	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.64475702316383E-4	0.104
18	56191078	A	G	18	58523846	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.33724383187652E-4	0.024
18	56191078	A	T	18	58523846	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00234191933912884	0.18
18	56191079	A	C	18	58523847	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0304199856471533	0.126
18	56191079	A	G	18	58523847	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.12833567502569E-4	0.006
18	56191079	A	T	18	58523847	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0228167804025141	0.14
18	56191080	G	A	18	58523848	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.04053205114915E-4	0.014
18	56191080	G	C	18	58523848	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.92027006547345E-4	0.062
18	56191080	G	T	18	58523848	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00158917382510989	0.06
18	56191081	A	C	18	58523849	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.30380475793381E-4	0.058
18	56191081	A	G	18	58523849	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.62897779844189E-5	0.004
18	56191081	A	T	18	58523849	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00131743205560754	0.06
18	56191082	A	C	18	58523850	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.51377373974716E-4	0.132
18	56191082	A	G	18	58523850	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.30079057736765E-4	0.006
18	56191082	A	T	18	58523850	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00162732321619253	0.07
18	56191083	G	A	18	58523851	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.67360184882852E-5	0.0
18	56191083	G	C	18	58523851	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.92208498558612E-5	0.01
18	56191083	G	T	18	58523851	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.0426052834554E-4	0.018
18	56191084	A	C	18	58523852	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00108473582188127	0.212
18	56191084	A	G	18	58523852	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.50687975732505E-4	0.088
18	56191084	A	T	18	58523852	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00212280530305452	0.262
18	56191085	C	A	18	58523853	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.07226583064442E-5	0.01
18	56191085	C	G	18	58523853	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.31158838237876E-5	0.004
18	56191085	C	T	18	58523853	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.4214652392954E-4	0.024
18	56191159	T	A	18	58523927	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.23461012334783E-5	0.0
18	56191159	T	C	18	58523927	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.3519283322177E-6	0.0
18	56191159	T	G	18	58523927	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.3519283322177E-6	0.0
18	56191160	G	A	18	58523928	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.89332118491825E-4	0.0
18	56191160	G	C	18	58523928	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.42379801625725E-5	0.0
18	56191160	G	T	18	58523928	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.53327113618878E-5	0.0
18	56191161	G	A	18	58523929	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.03150620259812E-4	0.014
18	56191161	G	C	18	58523929	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.58090290126124E-4	0.06
18	56191161	G	T	18	58523929	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.61552074818139E-4	0.012
18	56191162	T	A	18	58523930	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.32272676610967E-5	0.004
18	56191162	T	C	18	58523930	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.69577452863345E-5	0.004
18	56191162	T	G	18	58523930	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.40297803243069E-4	0.02
18	56191163	T	A	18	58523931	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.1978988269074	0.346
18	56191163	T	C	18	58523931	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.134919491851012	0.284
18	56191163	T	G	18	58523931	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0992743932325587	0.346
18	56191164	T	A	18	58523932	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999815793972506	0.916
18	56191164	T	C	18	58523932	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.923865136513972	0.596
18	56191164	T	G	18	58523932	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999815793972506	0.894
18	56191165	A	C	18	58523933	y	y	splicing	ALPK2(NM_052947:exon8:c.5629+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5629+2T>G)	.	.	0.999988247793601	0.926
18	56191165	A	G	18	58523933	y	y	splicing	ALPK2(NM_052947:exon8:c.5629+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5629+2T>C)	.	.	0.98918007292081	0.634
18	56191165	A	T	18	58523933	y	y	splicing	ALPK2(NM_052947:exon8:c.5629+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5629+2T>A)	.	.	0.999988247793601	0.926
18	56191166	C	A	18	58523934	y	y	splicing	ALPK2(NM_052947:exon8:c.5629+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5629+1G>T)	.	.	0.999985532734767	0.936
18	56191166	C	G	18	58523934	y	y	splicing	ALPK2(NM_052947:exon8:c.5629+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5629+1G>C)	.	.	0.999985532734767	0.936
18	56191166	C	T	18	58523934	y	y	splicing	ALPK2(NM_052947:exon8:c.5629+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5629+1G>A)	.	.	0.999985532734767	0.922
18	56191167	C	A	18	58523935	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.G5629T:p.V1877F;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.G5629T:p.V1877F;	0.999985962550614	0.998
18	56191167	C	G	18	58523935	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.G5629C:p.V1877L;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.G5629C:p.V1877L;	0.999996707031754	1.0
18	56191167	C	T	18	58523935	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.G5629A:p.V1877I;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.G5629A:p.V1877I;	0.999993363068828	1.0
18	56191168	T	A	18	58523936	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.A5628T:p.E1876D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.A5628T:p.E1876D;	0.999927212727154	1.0
18	56191168	T	C	18	58523936	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon7:c.A5628G:p.E1876E;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.A5628G:p.E1876E;	0.994960515795709	0.746
18	56191168	T	G	18	58523936	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.A5628C:p.E1876D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.A5628C:p.E1876D;	0.999852546017682	0.998
18	56191169	T	A	18	58523937	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.A5627T:p.E1876V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.A5627T:p.E1876V;	0.933415980262967	0.684
18	56191169	T	C	18	58523937	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.A5627G:p.E1876G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.A5627G:p.E1876G;	0.0194973588693092	0.134
18	56191169	T	G	18	58523937	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.A5627C:p.E1876A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.A5627C:p.E1876A;	0.0253219790470373	0.17
18	56191293	C	A	18	58524061	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.G5503T:p.A1835S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.G5503T:p.A1835S;	0.981119452660802	0.854
18	56191293	C	G	18	58524061	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.G5503C:p.A1835P;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.G5503C:p.A1835P;	0.987002216700203	0.83
18	56191293	C	T	18	58524061	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.G5503A:p.A1835T;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.G5503A:p.A1835T;	0.992186420593193	0.808
18	56191294	A	C	18	58524062	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.T5502G:p.S1834R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.T5502G:p.S1834R;	2.21179302822722E-4	0.206
18	56191294	A	G	18	58524062	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon7:c.T5502C:p.S1834S;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.T5502C:p.S1834S;	6.09302679586248E-5	0.0
18	56191294	A	T	18	58524062	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon7:c.T5502A:p.S1834R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon7:c.T5502A:p.S1834R;	5.77504462443199E-5	0.092
18	56191295	C	A	18	58524063	y	y	splicing	ALPK2(NM_052947:exon8:c.5502-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5502-1G>T)	.	.	0.999986254256132	0.944
18	56191295	C	G	18	58524063	y	y	splicing	ALPK2(NM_052947:exon8:c.5502-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5502-1G>C)	.	.	0.999986254256132	0.942
18	56191295	C	T	18	58524063	y	y	splicing	ALPK2(NM_052947:exon8:c.5502-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5502-1G>A)	.	.	0.999986254256132	0.94
18	56191296	T	A	18	58524064	y	y	splicing	ALPK2(NM_052947:exon8:c.5502-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5502-2A>T)	.	.	0.999949819263333	0.948
18	56191296	T	C	18	58524064	y	y	splicing	ALPK2(NM_052947:exon8:c.5502-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5502-2A>G)	.	.	0.999949819263333	0.942
18	56191296	T	G	18	58524064	y	y	splicing	ALPK2(NM_052947:exon8:c.5502-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon8:c.5502-2A>C)	.	.	0.999949819263333	0.934
18	56191297	G	A	18	58524065	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.3633501665503E-4	0.038
18	56191297	G	C	18	58524065	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.997563027654184	0.838
18	56191297	G	T	18	58524065	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.705094617930619	0.716
18	56191298	C	A	18	58524066	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.66810638332205E-5	0.004
18	56191298	C	G	18	58524066	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.11710416100281E-5	0.13
18	56191298	C	T	18	58524066	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.42119912452458E-5	0.05
18	56191299	A	C	18	58524067	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.37400430142652	0.424
18	56191299	A	G	18	58524067	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.012672263279753	0.154
18	56191299	A	T	18	58524067	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999858947326144	0.936
18	56191300	A	C	18	58524068	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999668699404715	0.956
18	56191300	A	G	18	58524068	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.08982711213917E-5	0.058
18	56191300	A	T	18	58524068	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0181992119855981	0.38
18	56191301	T	A	18	58524069	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.67944982512943E-5	0.004
18	56191301	T	C	18	58524069	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.09421806349221E-6	0.006
18	56191301	T	G	18	58524069	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.61595711649309E-5	0.012
18	56191302	G	A	18	58524070	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.68713062658756E-5	0.01
18	56191302	G	C	18	58524070	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.10770838535442E-4	0.098
18	56191302	G	T	18	58524070	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.83429214310136E-5	0.09
18	56191303	A	C	18	58524071	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00562756486099594	0.164
18	56191303	A	G	18	58524071	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.40830334458208E-4	0.052
18	56191303	A	T	18	58524071	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.127359712093506	0.432
18	56191304	G	A	18	58524072	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.4012640442122E-5	0.022
18	56191304	G	C	18	58524072	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00123720048462132	0.084
18	56191304	G	T	18	58524072	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00193466174990884	0.062
18	56191305	G	A	18	58524073	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.63460934625173E-5	0.0
18	56191305	G	C	18	58524073	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.27839348726065E-4	0.082
18	56191305	G	T	18	58524073	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00392958284376792	0.086
18	56191306	A	C	18	58524074	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00423094519008437	0.22
18	56191306	A	G	18	58524074	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.58946062697536E-5	0.014
18	56191306	A	T	18	58524074	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0372818863502681	0.22
18	56196315	C	A	18	58529083	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.64377025305994E-4	0.018
18	56196315	C	G	18	58529083	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.23343182017245E-4	0.002
18	56196315	C	T	18	58529083	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.87642755149442E-4	0.006
18	56196316	A	C	18	58529084	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00115995503500308	0.002
18	56196316	A	G	18	58529084	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00145479838173568	0.004
18	56196316	A	T	18	58529084	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00255212850419114	0.016
18	56196317	T	A	18	58529085	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.62892137272191E-5	0.024
18	56196317	T	C	18	58529085	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.69777988853381E-5	0.032
18	56196317	T	G	18	58529085	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.00650022329523E-4	0.02
18	56196318	C	A	18	58529086	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999909234576313	0.954
18	56196318	C	G	18	58529086	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999498077108693	0.926
18	56196318	C	T	18	58529086	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999897207074873	0.954
18	56196319	G	A	18	58529087	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00246270698710267	0.076
18	56196319	G	C	18	58529087	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.35600517530907E-5	0.022
18	56196319	G	T	18	58529087	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.36095407540235E-5	0.01
18	56196320	C	A	18	58529088	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.03235538602127	0.366
18	56196320	C	G	18	58529088	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.806748115187425	0.528
18	56196320	C	T	18	58529088	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.61145996824895E-4	0.026
18	56196321	A	C	18	58529089	y	y	splicing	ALPK2(NM_052947:exon7:c.5501+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5501+2T>G)	.	.	0.999989917668626	0.934
18	56196321	A	G	18	58529089	y	y	splicing	ALPK2(NM_052947:exon7:c.5501+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5501+2T>C)	.	.	0.999939711763648	0.878
18	56196321	A	T	18	58529089	y	y	splicing	ALPK2(NM_052947:exon7:c.5501+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5501+2T>A)	.	.	0.999989917668626	0.934
18	56196322	C	A	18	58529090	y	y	splicing	ALPK2(NM_052947:exon7:c.5501+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5501+1G>T)	.	.	0.999981760802075	0.936
18	56196322	C	G	18	58529090	y	y	splicing	ALPK2(NM_052947:exon7:c.5501+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5501+1G>C)	.	.	0.999981760802075	0.938
18	56196322	C	T	18	58529090	y	y	splicing	ALPK2(NM_052947:exon7:c.5501+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5501+1G>A)	.	.	0.999981760802075	0.938
18	56196323	C	A	18	58529091	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.G5501T:p.S1834I;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.G5501T:p.S1834I;	0.999987469944553	1.0
18	56196323	C	G	18	58529091	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.G5501C:p.S1834T;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.G5501C:p.S1834T;	0.999996812878644	0.996
18	56196323	C	T	18	58529091	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.G5501A:p.S1834N;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.G5501A:p.S1834N;	0.999990794728237	1.0
18	56196324	T	A	18	58529092	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.A5500T:p.S1834C;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.A5500T:p.S1834C;	0.999909518211745	0.996
18	56196324	T	C	18	58529092	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.A5500G:p.S1834G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.A5500G:p.S1834G;	0.999915418585255	0.996
18	56196324	T	G	18	58529092	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.A5500C:p.S1834R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.A5500C:p.S1834R;	0.999606190522878	0.954
18	56196325	T	A	18	58529093	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.A5499T:p.R1833S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.A5499T:p.R1833S;	0.995636154859268	0.806
18	56196325	T	C	18	58529093	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon6:c.A5499G:p.R1833R;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.A5499G:p.R1833R;	0.0741101832394469	0.256
18	56196325	T	G	18	58529093	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.A5499C:p.R1833S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.A5499C:p.R1833S;	0.78147455914693	0.794
18	56196469	A	C	18	58529237	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon6:c.T5355G:p.A1785A;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.T5355G:p.A1785A;	6.29022658490243E-4	0.098
18	56196469	A	G	18	58529237	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon6:c.T5355C:p.A1785A;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.T5355C:p.A1785A;	0.00222371232702852	0.308
18	56196469	A	T	18	58529237	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon6:c.T5355A:p.A1785A;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.T5355A:p.A1785A;	0.0104731511340286	0.326
18	56196470	G	A	18	58529238	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.C5354T:p.A1785V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.C5354T:p.A1785V;	0.545154222593881	0.576
18	56196470	G	C	18	58529238	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.C5354G:p.A1785G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.C5354G:p.A1785G;	0.270232653194428	0.524
18	56196470	G	T	18	58529238	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon6:c.C5354A:p.A1785D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon6:c.C5354A:p.A1785D;	0.0576629992841184	0.526
18	56196471	C	A	18	58529239	y	y	splicing	ALPK2(NM_052947:exon7:c.5354-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5354-1G>T)	.	.	0.999985532734767	0.936
18	56196471	C	G	18	58529239	y	y	splicing	ALPK2(NM_052947:exon7:c.5354-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5354-1G>C)	.	.	0.999985532734767	0.936
18	56196471	C	T	18	58529239	y	y	splicing	ALPK2(NM_052947:exon7:c.5354-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5354-1G>A)	.	.	0.999985532734767	0.936
18	56196472	T	A	18	58529240	y	y	splicing	ALPK2(NM_052947:exon7:c.5354-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5354-2A>T)	.	.	0.999988247793601	0.928
18	56196472	T	C	18	58529240	y	y	splicing	ALPK2(NM_052947:exon7:c.5354-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5354-2A>G)	.	.	0.999988247793601	0.926
18	56196472	T	G	18	58529240	y	y	splicing	ALPK2(NM_052947:exon7:c.5354-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon7:c.5354-2A>C)	.	.	0.999988247793601	0.926
18	56196473	A	C	18	58529241	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.992234861259687	0.68
18	56196473	A	G	18	58529241	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.4978325057334E-5	0.014
18	56196473	A	T	18	58529241	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00776016242700684	0.274
18	56196474	G	A	18	58529242	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00120640771852355	0.062
18	56196474	G	C	18	58529242	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00621053880840279	0.096
18	56196474	G	T	18	58529242	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00128597139319232	0.058
18	56196475	A	C	18	58529243	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.948567535866356	0.492
18	56196475	A	G	18	58529243	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.50164557900423E-4	0.028
18	56196475	A	T	18	58529243	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.94199454553572	0.512
18	56196476	A	C	18	58529244	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0235237613161607	0.268
18	56196476	A	G	18	58529244	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.33452360344244E-4	0.006
18	56196476	A	T	18	58529244	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0167269364399627	0.286
18	56196477	A	C	18	58529245	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00227332308236167	0.022
18	56196477	A	G	18	58529245	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.66295693744267E-5	0.01
18	56196477	A	T	18	58529245	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0024757679115709	0.022
18	56196478	C	A	18	58529246	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.03150620259812E-4	0.004
18	56196478	C	G	18	58529246	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.33936076264699E-5	0.018
18	56196478	C	T	18	58529246	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00121767593154138	0.038
18	56196479	A	C	18	58529247	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0776158304038552	0.386
18	56196479	A	G	18	58529247	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.28335669688659E-4	0.118
18	56196479	A	T	18	58529247	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999972840996592	0.966
18	56196480	A	C	18	58529248	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.100689432419476	0.51
18	56196480	A	G	18	58529248	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.10792515160594E-4	0.034
18	56196480	A	T	18	58529248	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.196037870740266	0.558
18	56196481	G	A	18	58529249	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.91969176433627E-5	0.004
18	56196481	G	C	18	58529249	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.86715391598992E-4	0.07
18	56196481	G	T	18	58529249	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00424914870715508	0.184
18	56196482	A	C	18	58529250	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.99996197025457	0.96
18	56196482	A	G	18	58529250	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.369861134349047	0.434
18	56196482	A	T	18	58529250	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.993333263168907	0.852
18	56202058	A	C	18	58534826	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.05591879348875E-4	0.002
18	56202058	A	G	18	58534826	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.19468700289414E-5	0.002
18	56202058	A	T	18	58534826	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.3534216270253E-4	0.006
18	56202059	A	C	18	58534827	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.92512075996494E-5	0.0
18	56202059	A	G	18	58534827	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.37694980554624E-5	0.0
18	56202059	A	T	18	58534827	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.81486247047005E-5	0.002
18	56202060	C	A	18	58534828	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.97081230262844E-4	0.006
18	56202060	C	G	18	58534828	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00280231751926722	0.122
18	56202060	C	T	18	58534828	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00122427396990141	0.072
18	56202061	C	A	18	58534829	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998472495216331	0.924
18	56202061	C	G	18	58534829	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.979538425909392	0.718
18	56202061	C	T	18	58534829	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.996953584726462	0.924
18	56202062	T	A	18	58534830	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.972947905015723	0.534
18	56202062	T	C	18	58534830	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.99180864690277	0.668
18	56202062	T	G	18	58534830	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.833634123661766	0.546
18	56202063	C	A	18	58534831	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998521861643797	0.752
18	56202063	C	G	18	58534831	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.997307982292288	0.76
18	56202063	C	T	18	58534831	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00131050283982671	0.028
18	56202064	A	C	18	58534832	y	y	splicing	ALPK2(NM_052947:exon6:c.5353+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon6:c.5353+2T>G)	.	.	0.999989917668626	0.942
18	56202064	A	G	18	58534832	y	y	splicing	ALPK2(NM_052947:exon6:c.5353+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon6:c.5353+2T>C)	.	.	0.999927254940125	0.878
18	56202064	A	T	18	58534832	y	y	splicing	ALPK2(NM_052947:exon6:c.5353+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon6:c.5353+2T>A)	.	.	0.999989917668626	0.942
18	56202065	C	A	18	58534833	y	y	splicing	ALPK2(NM_052947:exon6:c.5353+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon6:c.5353+1G>T)	.	.	0.999986675681007	0.954
18	56202065	C	G	18	58534833	y	y	splicing	ALPK2(NM_052947:exon6:c.5353+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon6:c.5353+1G>C)	.	.	0.999986675681007	0.954
18	56202065	C	T	18	58534833	y	y	splicing	ALPK2(NM_052947:exon6:c.5353+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon6:c.5353+1G>A)	.	.	0.999986675681007	0.954
18	56202066	C	A	18	58534834	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G5353T:p.A1785S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G5353T:p.A1785S;	0.999876262540134	0.99
18	56202066	C	G	18	58534834	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G5353C:p.A1785P;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G5353C:p.A1785P;	0.999984236746982	0.996
18	56202066	C	T	18	58534834	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G5353A:p.A1785T;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G5353A:p.A1785T;	0.999949288615862	0.998
18	56202067	T	A	18	58534835	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.A5352T:p.R1784S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.A5352T:p.R1784S;	0.999644189126901	0.994
18	56202067	T	C	18	58534835	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon5:c.A5352G:p.R1784R;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.A5352G:p.R1784R;	0.992671079765697	0.712
18	56202067	T	G	18	58534835	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.A5352C:p.R1784S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.A5352C:p.R1784S;	0.998856390912007	0.946
18	56202068	C	A	18	58534836	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G5351T:p.R1784I;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G5351T:p.R1784I;	8.15599676421118E-4	0.118
18	56202068	C	G	18	58534836	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G5351C:p.R1784T;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G5351C:p.R1784T;	2.89224122166438E-5	0.0
18	56202068	C	T	18	58534836	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G5351A:p.R1784K;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G5351A:p.R1784K;	2.71148408388572E-5	0.008
18	56205455	A	C	18	58538223	y	n	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.T1964G:p.V655G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.T1964G:p.V655G;	0.00371548928362356	0.094
18	56205455	A	G	18	58538223	y	n	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.T1964C:p.V655A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.T1964C:p.V655A;	0.00563289298366388	0.106
18	56205455	A	T	18	58538223	y	n	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.T1964A:p.V655E;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.T1964A:p.V655E;	0.00594691025915892	0.092
18	56205456	C	A	18	58538224	y	n	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G1963T:p.V655L;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G1963T:p.V655L;	0.948041594383774	0.814
18	56205456	C	G	18	58538224	y	n	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G1963C:p.V655L;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G1963C:p.V655L;	0.826708013874131	0.812
18	56205456	C	T	18	58538224	y	n	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.G1963A:p.V655I;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon5:c.G1963A:p.V655I;	0.0777633064618588	0.242
18	56205457	C	A	18	58538225	y	n	splicing	ALPK2(NM_052947:exon6:c.1963-1G>T)	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.999989263107695	0.936
18	56205457	C	G	18	58538225	y	n	splicing	ALPK2(NM_052947:exon6:c.1963-1G>C)	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.999989263107695	0.936
18	56205457	C	T	18	58538225	y	n	splicing	ALPK2(NM_052947:exon6:c.1963-1G>A)	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.999989263107695	0.936
18	56205458	T	A	18	58538226	y	n	splicing	ALPK2(NM_052947:exon6:c.1963-2A>T)	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.999988247793601	0.932
18	56205458	T	C	18	58538226	y	n	splicing	ALPK2(NM_052947:exon6:c.1963-2A>G)	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.999988247793601	0.932
18	56205458	T	G	18	58538226	y	n	splicing	ALPK2(NM_052947:exon6:c.1963-2A>C)	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.999988247793601	0.932
18	56205459	A	C	18	58538227	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.891557736430136	0.666
18	56205459	A	G	18	58538227	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	3.36564897081471E-5	0.0
18	56205459	A	T	18	58538227	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00326813802902378	0.1
18	56205460	G	A	18	58538228	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.043096093939092	0.214
18	56205460	G	C	18	58538228	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.0232957807842585	0.124
18	56205460	G	T	18	58538228	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.0272298270394768	0.198
18	56205461	G	A	18	58538229	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	1.53185815400924E-4	0.01
18	56205461	G	C	18	58538229	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	9.65650517084091E-4	0.096
18	56205461	G	T	18	58538229	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00120553673094041	0.088
18	56205462	A	C	18	58538230	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00940824072269326	0.17
18	56205462	A	G	18	58538230	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	2.43650819752823E-4	0.024
18	56205462	A	T	18	58538230	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00609372308325748	0.15
18	56205463	A	C	18	58538231	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	6.3674595896452E-4	0.034
18	56205463	A	G	18	58538231	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	4.53399838552015E-4	0.004
18	56205463	A	T	18	58538231	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	7.79132043599071E-4	0.038
18	56205464	G	A	18	58538232	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	9.17691113309196E-5	0.002
18	56205464	G	C	18	58538232	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	3.77667083675119E-4	0.046
18	56205464	G	T	18	58538232	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	7.70866134413826E-4	0.072
18	56205465	A	C	18	58538233	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.999211655388028	0.89
18	56205465	A	G	18	58538233	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00464483531103493	0.086
18	56205465	A	T	18	58538233	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00691592010721597	0.318
18	56205466	T	A	18	58538234	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	4.91340171786164E-5	0.11
18	56205466	T	C	18	58538234	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	1.08842948140165E-4	0.08
18	56205466	T	G	18	58538234	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	5.96808948126354E-5	0.09
18	56205467	G	A	18	58538235	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00754411819914419	0.208
18	56205467	G	C	18	58538235	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00694275779153907	0.048
18	56205467	G	T	18	58538235	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	0.00997903580939564	0.084
18	56205468	A	C	18	58538236	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	2.24641616288774E-5	0.162
18	56205468	A	G	18	58538236	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	7.10152377514103E-6	0.044
18	56205468	A	T	18	58538236	y	n	intronic	ALPK2	.	.	ncRNA_exonic	ENSG00000267257	.	.	7.16564657534263E-5	0.272
18	56246038	A	C	18	58578806	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.48306501328221E-5	0.0
18	56246038	A	G	18	58578806	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.48306501328221E-5	0.0
18	56246038	A	T	18	58578806	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.25896182624293E-5	0.0
18	56246039	G	A	18	58578807	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.14767442097854E-5	0.0
18	56246039	G	C	18	58578807	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.95768867081143E-5	0.0
18	56246039	G	T	18	58578807	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.15941453541388E-5	0.0
18	56246040	T	A	18	58578808	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.97018975761258E-5	0.004
18	56246040	T	C	18	58578808	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.2878818949229E-5	0.002
18	56246040	T	G	18	58578808	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.06329380650791E-5	0.03
18	56246041	C	A	18	58578809	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.563995014933879	0.55
18	56246041	C	G	18	58578809	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.459503251446205	0.544
18	56246041	C	T	18	58578809	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.67175992871545	0.598
18	56246042	T	A	18	58578810	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.205034151655334	0.292
18	56246042	T	C	18	58578810	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.147175219227383	0.316
18	56246042	T	G	18	58578810	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0784788543646154	0.31
18	56246043	T	A	18	58578811	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.982892959399615	0.716
18	56246043	T	C	18	58578811	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.105863044824889	0.242
18	56246043	T	G	18	58578811	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.910252556900378	0.648
18	56246044	A	C	18	58578812	y	y	splicing	ALPK2(NM_052947:exon5:c.1962+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.1962+2T>G)	.	.	0.99994568797423	0.926
18	56246044	A	G	18	58578812	y	y	splicing	ALPK2(NM_052947:exon5:c.1962+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.1962+2T>C)	.	.	0.985124993549982	0.666
18	56246044	A	T	18	58578812	y	y	splicing	ALPK2(NM_052947:exon5:c.1962+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.1962+2T>A)	.	.	0.999978952611685	0.926
18	56246045	C	A	18	58578813	y	y	splicing	ALPK2(NM_052947:exon5:c.1962+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.1962+1G>T)	.	.	0.999974090184857	0.93
18	56246045	C	G	18	58578813	y	y	splicing	ALPK2(NM_052947:exon5:c.1962+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.1962+1G>C)	.	.	0.99993314117114	0.93
18	56246045	C	T	18	58578813	y	y	splicing	ALPK2(NM_052947:exon5:c.1962+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.1962+1G>A)	.	.	0.999974090184857	0.936
18	56246046	C	A	18	58578814	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.G1962T:p.Q654H;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.G1962T:p.Q654H;	0.99989906270929	0.972
18	56246046	C	G	18	58578814	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.G1962C:p.Q654H;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.G1962C:p.Q654H;	0.999957306013846	0.938
18	56246046	C	T	18	58578814	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon4:c.G1962A:p.Q654Q;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.G1962A:p.Q654Q;	0.984964857662193	0.778
18	56246047	T	A	18	58578815	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.A1961T:p.Q654L;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.A1961T:p.Q654L;	0.699776841667558	0.518
18	56246047	T	C	18	58578815	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.A1961G:p.Q654R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.A1961G:p.Q654R;	0.966485230277564	0.776
18	56246047	T	G	18	58578815	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.A1961C:p.Q654P;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.A1961C:p.Q654P;	0.975723685224001	0.84
18	56246048	G	A	18	58578816	y	y	exonic	ALPK2	stopgain SNV	ALPK2:NM_052947:exon4:c.C1960T:p.Q654X;	exonic	ENSG00000198796	stopgain SNV	ENSG00000198796:ENST00000361673:exon4:c.C1960T:p.Q654X;	0.998532751797126	0.752
18	56246048	G	C	18	58578816	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.C1960G:p.Q654E;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.C1960G:p.Q654E;	0.0678398145250785	0.15
18	56246048	G	T	18	58578816	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.C1960A:p.Q654K;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.C1960A:p.Q654K;	0.893916136055352	0.65
18	56247779	A	C	18	58580547	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.T229G:p.C77G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.T229G:p.C77G;	0.0768014318723796	0.19
18	56247779	A	G	18	58580547	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.T229C:p.C77R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.T229C:p.C77R;	0.0702887434009848	0.21
18	56247779	A	T	18	58580547	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.T229A:p.C77S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.T229A:p.C77S;	0.0775172440499253	0.23
18	56247780	G	A	18	58580548	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon4:c.C228T:p.C76C;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.C228T:p.C76C;	0.0249851620717137	0.258
18	56247780	G	C	18	58580548	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.C228G:p.C76W;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon4:c.C228G:p.C76W;	0.00920608935043227	0.12
18	56247780	G	T	18	58580548	y	y	exonic	ALPK2	stopgain SNV	ALPK2:NM_052947:exon4:c.C228A:p.C76X;	exonic	ENSG00000198796	stopgain SNV	ENSG00000198796:ENST00000361673:exon4:c.C228A:p.C76X;	0.917088756089414	0.694
18	56247781	C	A	18	58580549	y	y	splicing	ALPK2(NM_052947:exon5:c.228-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.228-1G>T)	.	.	0.99995545544995	0.948
18	56247781	C	G	18	58580549	y	y	splicing	ALPK2(NM_052947:exon5:c.228-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.228-1G>C)	.	.	0.99995586615188	0.948
18	56247781	C	T	18	58580549	y	y	splicing	ALPK2(NM_052947:exon5:c.228-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.228-1G>A)	.	.	0.99995545544995	0.948
18	56247782	T	A	18	58580550	y	y	splicing	ALPK2(NM_052947:exon5:c.228-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.228-2A>T)	.	.	0.99996509239462	0.96
18	56247782	T	C	18	58580550	y	y	splicing	ALPK2(NM_052947:exon5:c.228-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.228-2A>G)	.	.	0.999965414246739	0.962
18	56247782	T	G	18	58580550	y	y	splicing	ALPK2(NM_052947:exon5:c.228-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon5:c.228-2A>C)	.	.	0.999965414246739	0.962
18	56247783	A	C	18	58580551	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999399416424643	0.742
18	56247783	A	G	18	58580551	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.86600422913206E-4	0.092
18	56247783	A	T	18	58580551	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.576636468218919	0.446
18	56247784	G	A	18	58580552	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.89829528346028E-5	0.06
18	56247784	G	C	18	58580552	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.07385413229099E-4	0.014
18	56247784	G	T	18	58580552	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.59569173445399E-5	0.026
18	56247785	G	A	18	58580553	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.88950050280721E-4	0.014
18	56247785	G	C	18	58580553	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.67614707549248E-4	0.118
18	56247785	G	T	18	58580553	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.07909851683712E-4	0.074
18	56247786	A	C	18	58580554	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.99995501478115	0.942
18	56247786	A	G	18	58580554	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.81010889901542E-4	0.024
18	56247786	A	T	18	58580554	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0253780084374343	0.264
18	56247787	T	A	18	58580555	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.67944982512943E-5	0.0
18	56247787	T	C	18	58580555	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.17246496461593E-5	0.0
18	56247787	T	G	18	58580555	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.67190155668058E-5	0.004
18	56247788	G	A	18	58580556	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.11892150070521E-5	0.0
18	56247788	G	C	18	58580556	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.41993866292325E-5	0.022
18	56247788	G	T	18	58580556	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.99824970591503E-5	0.046
18	56247789	A	C	18	58580557	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.04461977375183E-4	0.092
18	56247789	A	G	18	58580557	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.16316763070652E-5	0.072
18	56247789	A	T	18	58580557	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00614120763940664	0.106
18	56247790	A	C	18	58580558	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00398864612844952	0.194
18	56247790	A	G	18	58580558	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.96910276404587E-4	0.044
18	56247790	A	T	18	58580558	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0154916798592908	0.2
18	56247791	G	A	18	58580559	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.71818646213313E-4	0.01
18	56247791	G	C	18	58580559	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00659895571676659	0.106
18	56247791	G	T	18	58580559	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00388260609869453	0.126
18	56247792	A	C	18	58580560	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0253290274990241	0.382
18	56247792	A	G	18	58580560	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00184718740035509	0.124
18	56247792	A	T	18	58580560	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.153944708017026	0.432
18	56274546	C	A	18	58607314	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.66319213704038E-5	0.0
18	56274546	C	G	18	58607314	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.66319213704038E-5	0.0
18	56274546	C	T	18	58607314	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.66319213704038E-5	0.0
18	56274547	C	A	18	58607315	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.3525528897954E-5	0.002
18	56274547	C	G	18	58607315	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.18373837545745E-5	0.002
18	56274547	C	T	18	58607315	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.18373837545745E-5	0.004
18	56274548	A	C	18	58607316	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0333442967831189	0.332
18	56274548	A	G	18	58607316	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.294892091454773	0.418
18	56274548	A	T	18	58607316	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.397996461332135	0.43
18	56274549	C	A	18	58607317	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999929907232854	0.92
18	56274549	C	G	18	58607317	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999330526830037	0.854
18	56274549	C	T	18	58607317	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999733666966093	0.928
18	56274550	T	A	18	58607318	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.99087134050688	0.728
18	56274550	T	C	18	58607318	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.981467083281355	0.744
18	56274550	T	G	18	58607318	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.927497053190506	0.64
18	56274551	T	A	18	58607319	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.996799722677231	0.69
18	56274551	T	C	18	58607319	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.328364264062468	0.324
18	56274551	T	G	18	58607319	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998019367684188	0.824
18	56274552	A	C	18	58607320	y	y	splicing	ALPK2(NM_052947:exon4:c.227+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.227+2T>G)	.	.	0.99994568797423	0.934
18	56274552	A	G	18	58607320	y	y	splicing	ALPK2(NM_052947:exon4:c.227+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.227+2T>C)	.	.	0.987955382770663	0.722
18	56274552	A	T	18	58607320	y	y	splicing	ALPK2(NM_052947:exon4:c.227+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.227+2T>A)	.	.	0.99994568797423	0.93
18	56274553	C	A	18	58607321	y	y	splicing	ALPK2(NM_052947:exon4:c.227+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.227+1G>T)	.	.	0.999949496871441	0.932
18	56274553	C	G	18	58607321	y	y	splicing	ALPK2(NM_052947:exon4:c.227+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.227+1G>C)	.	.	0.999949496871441	0.934
18	56274553	C	T	18	58607321	y	y	splicing	ALPK2(NM_052947:exon4:c.227+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.227+1G>A)	.	.	0.999949496871441	0.93
18	56274554	C	A	18	58607322	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.G227T:p.C76F;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.G227T:p.C76F;	0.999883671623705	0.816
18	56274554	C	G	18	58607322	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.G227C:p.C76S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.G227C:p.C76S;	0.996724149980222	0.672
18	56274554	C	T	18	58607322	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.G227A:p.C76Y;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.G227A:p.C76Y;	0.999920723545617	0.986
18	56274555	A	C	18	58607323	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.T226G:p.C76G;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T226G:p.C76G;	5.21116167804549E-5	0.002
18	56274555	A	G	18	58607323	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.T226C:p.C76R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T226C:p.C76R;	1.88214513350355E-4	0.02
18	56274555	A	T	18	58607323	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.T226A:p.C76S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T226A:p.C76S;	2.57685293607423E-5	0.058
18	56274556	A	C	18	58607324	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon3:c.T225G:p.S75S;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T225G:p.S75S;	9.53234775661203E-5	0.016
18	56274556	A	G	18	58607324	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon3:c.T225C:p.S75S;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T225C:p.S75S;	4.08042195173193E-5	0.0
18	56274556	A	T	18	58607324	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon3:c.T225A:p.S75S;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T225A:p.S75S;	4.08042195173193E-5	0.0
18	56274670	A	C	18	58607438	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon3:c.T111G:p.G37G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T111G:p.G37G;	1.72141963134E-4	0.008
18	56274670	A	G	18	58607438	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon3:c.T111C:p.G37G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T111C:p.G37G;	4.06373411771415E-4	0.13
18	56274670	A	T	18	58607438	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon3:c.T111A:p.G37G;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.T111A:p.G37G;	1.72141963134E-4	0.002
18	56274671	C	A	18	58607439	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.G110T:p.G37V;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.G110T:p.G37V;	0.99937672598183	0.848
18	56274671	C	G	18	58607439	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.G110C:p.G37A;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.G110C:p.G37A;	0.998394908424775	0.89
18	56274671	C	T	18	58607439	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon3:c.G110A:p.G37D;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon3:c.G110A:p.G37D;	0.996918961365333	0.764
18	56274672	C	A	18	58607440	y	y	splicing	ALPK2(NM_052947:exon4:c.110-1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.110-1G>T)	.	.	0.999989072007339	0.934
18	56274672	C	G	18	58607440	y	y	splicing	ALPK2(NM_052947:exon4:c.110-1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.110-1G>C)	.	.	0.999989072007339	0.934
18	56274672	C	T	18	58607440	y	y	splicing	ALPK2(NM_052947:exon4:c.110-1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.110-1G>A)	.	.	0.999989072007339	0.934
18	56274673	T	A	18	58607441	y	y	splicing	ALPK2(NM_052947:exon4:c.110-2A>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.110-2A>T)	.	.	0.999988247793601	0.932
18	56274673	T	C	18	58607441	y	y	splicing	ALPK2(NM_052947:exon4:c.110-2A>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.110-2A>G)	.	.	0.999988247793601	0.932
18	56274673	T	G	18	58607441	y	y	splicing	ALPK2(NM_052947:exon4:c.110-2A>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon4:c.110-2A>C)	.	.	0.999988247793601	0.932
18	56274674	G	A	18	58607442	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0119305254978688	0.126
18	56274674	G	C	18	58607442	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999211290970013	0.834
18	56274674	G	T	18	58607442	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.317086174492162	0.324
18	56274675	A	C	18	58607443	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.10422328957055E-4	0.018
18	56274675	A	G	18	58607443	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.01737975174778E-4	0.002
18	56274675	A	T	18	58607443	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.06171879161232E-4	0.002
18	56274676	C	A	18	58607444	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.85613105535032E-5	0.004
18	56274676	C	G	18	58607444	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.28466638968064E-5	0.002
18	56274676	C	T	18	58607444	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.95627325041547E-5	0.0
18	56274677	A	C	18	58607445	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0148295579052438	0.242
18	56274677	A	G	18	58607445	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.10564480197611E-5	0.01
18	56274677	A	T	18	58607445	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999707749670171	0.912
18	56274678	A	C	18	58607446	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999443693350913	0.906
18	56274678	A	G	18	58607446	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.713142335825889	0.542
18	56274678	A	T	18	58607446	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.991353886188356	0.654
18	56274679	T	A	18	58607447	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.88349152728666E-5	0.0
18	56274679	T	C	18	58607447	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.10516264810071E-4	0.002
18	56274679	T	G	18	58607447	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	6.04887258251938E-5	0.002
18	56274680	A	C	18	58607448	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0508867355824718	0.342
18	56274680	A	G	18	58607448	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.25409937982875E-5	0.066
18	56274680	A	T	18	58607448	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0554737022207426	0.326
18	56274681	A	C	18	58607449	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0551843300822509	0.358
18	56274681	A	G	18	58607449	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.58622326396719E-5	0.072
18	56274681	A	T	18	58607449	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0381440410273745	0.326
18	56274682	A	C	18	58607450	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.542762361280076	0.454
18	56274682	A	G	18	58607450	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0268149763454234	0.15
18	56274682	A	T	18	58607450	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.511292541673608	0.456
18	56274683	G	A	18	58607451	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.43752831136545E-4	0.234
18	56274683	G	C	18	58607451	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.35603879659236E-5	0.11
18	56274683	G	T	18	58607451	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.44166942011271E-5	0.18
18	56278913	A	C	18	58611681	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00113604673958384	0.198
18	56278913	A	G	18	58611681	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.25962489950698E-4	0.008
18	56278913	A	T	18	58611681	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.25078725606816E-4	0.154
18	56278914	T	A	18	58611682	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.41560232296629E-4	0.16
18	56278914	T	C	18	58611682	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00246574292860013	0.308
18	56278914	T	G	18	58611682	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.6988380353979E-5	0.006
18	56278915	G	A	18	58611683	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.11867550118582E-5	0.018
18	56278915	G	C	18	58611683	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.06120323215876E-5	0.032
18	56278915	G	T	18	58611683	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.50853670635068E-5	0.006
18	56278916	G	A	18	58611684	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.28594722091766E-4	0.044
18	56278916	G	C	18	58611684	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.99398866782511E-4	0.032
18	56278916	G	T	18	58611684	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.50862855902181E-5	0.07
18	56278917	T	A	18	58611685	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.991587204100114	0.852
18	56278917	T	C	18	58611685	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.99914344819788	0.906
18	56278917	T	G	18	58611685	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.892374400785023	0.542
18	56278918	T	A	18	58611686	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999894861523326	0.984
18	56278918	T	C	18	58611686	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998488045588791	0.97
18	56278918	T	G	18	58611686	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999895830844664	0.98
18	56278919	A	C	18	58611687	y	y	splicing	ALPK2(NM_052947:exon3:c.109+2T>G)	.	.	splicing	ENSG00000198796(ENST00000361673:exon3:c.109+2T>G)	.	.	0.999981808176352	0.936
18	56278919	A	G	18	58611687	y	y	splicing	ALPK2(NM_052947:exon3:c.109+2T>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon3:c.109+2T>C)	.	.	0.999949052948845	0.88
18	56278919	A	T	18	58611687	y	y	splicing	ALPK2(NM_052947:exon3:c.109+2T>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon3:c.109+2T>A)	.	.	0.999981808176352	0.93
18	56278920	C	A	18	58611688	y	y	splicing	ALPK2(NM_052947:exon3:c.109+1G>T)	.	.	splicing	ENSG00000198796(ENST00000361673:exon3:c.109+1G>T)	.	.	0.999986675681007	0.944
18	56278920	C	G	18	58611688	y	y	splicing	ALPK2(NM_052947:exon3:c.109+1G>C)	.	.	splicing	ENSG00000198796(ENST00000361673:exon3:c.109+1G>C)	.	.	0.999986675681007	0.944
18	56278920	C	T	18	58611688	y	y	splicing	ALPK2(NM_052947:exon3:c.109+1G>A)	.	.	splicing	ENSG00000198796(ENST00000361673:exon3:c.109+1G>A)	.	.	0.999986675681007	0.944
18	56278921	C	A	18	58611689	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon2:c.G109T:p.G37C;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.G109T:p.G37C;	0.999989622619037	0.998
18	56278921	C	G	18	58611689	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon2:c.G109C:p.G37R;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.G109C:p.G37R;	0.999995792955118	0.998
18	56278921	C	T	18	58611689	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon2:c.G109A:p.G37S;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.G109A:p.G37S;	0.999995308693149	1.0
18	56278922	A	C	18	58611690	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon2:c.T108G:p.S36S;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.T108G:p.S36S;	1.57093956867494E-4	0.13
18	56278922	A	G	18	58611690	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon2:c.T108C:p.S36S;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.T108C:p.S36S;	8.67139242890137E-5	0.036
18	56278922	A	T	18	58611690	y	y	exonic	ALPK2	synonymous SNV	ALPK2:NM_052947:exon2:c.T108A:p.S36S;	exonic	ENSG00000198796	synonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.T108A:p.S36S;	2.96720107789068E-4	0.124
18	56278923	G	A	18	58611691	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon2:c.C107T:p.S36F;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.C107T:p.S36F;	0.871774153545056	0.694
18	56278923	G	C	18	58611691	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon2:c.C107G:p.S36C;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.C107G:p.S36C;	0.061859278091314	0.192
18	56278923	G	T	18	58611691	y	y	exonic	ALPK2	nonsynonymous SNV	ALPK2:NM_052947:exon2:c.C107A:p.S36Y;	exonic	ENSG00000198796	nonsynonymous SNV	ENSG00000198796:ENST00000361673:exon2:c.C107A:p.S36Y;	4.51371011215512E-4	0.062
18	56279048	A	C	18	58611816	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	4.54692837957029E-4	0.004
18	56279048	A	G	18	58611816	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	4.14173269754223E-4	0.012
18	56279048	A	T	18	58611816	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	2.03289610266775E-4	0.002
18	56279049	T	A	18	58611817	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	9.06854023889729E-5	0.002
18	56279049	T	C	18	58611817	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	1.80936632113249E-5	0.0
18	56279049	T	G	18	58611817	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	8.98250623998535E-5	0.016
18	56279050	C	A	18	58611818	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999940858364002	0.906
18	56279050	C	G	18	58611818	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.99996469115006	0.908
18	56279050	C	T	18	58611818	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999956786857988	0.934
18	56279051	T	A	18	58611819	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999964896440643	0.932
18	56279051	T	C	18	58611819	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999951957019574	0.896
18	56279051	T	G	18	58611819	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999951957019574	0.892
18	56279052	G	A	18	58611820	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0973555124255563	0.412
18	56279052	G	C	18	58611820	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998704585907458	0.822
18	56279052	G	T	18	58611820	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.522802127690145	0.482
18	56279053	A	C	18	58611821	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.02341492297633E-5	0.0
18	56279053	A	G	18	58611821	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.7224652010633E-5	0.014
18	56279053	A	T	18	58611821	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.51235956478973E-4	0.002
18	56279054	A	C	18	58611822	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00281075740156932	0.266
18	56279054	A	G	18	58611822	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.09191491187607E-4	0.122
18	56279054	A	T	18	58611822	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00241394288496822	0.266
18	56279055	A	C	18	58611823	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00354718175316334	0.2
18	56279055	A	G	18	58611823	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.34024674046235E-4	0.078
18	56279055	A	T	18	58611823	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00599236341431798	0.19
18	56279056	A	C	18	58611824	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.04129876412317E-4	0.038
18	56279056	A	G	18	58611824	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.22721177082366E-5	0.0
18	56279056	A	T	18	58611824	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.09794571519437E-5	0.024
18	56279057	A	C	18	58611825	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	5.09882232757443E-4	0.054
18	56279057	A	G	18	58611825	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.95850721803762E-4	0.012
18	56279057	A	T	18	58611825	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	3.38266344074698E-4	0.076
18	56279058	A	C	18	58611826	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.13152411452176E-4	0.042
18	56279058	A	G	18	58611826	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.86612767811035E-5	0.004
18	56279058	A	T	18	58611826	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.61345537844672E-4	0.044
18	56279059	A	C	18	58611827	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.37359535338451E-4	0.144
18	56279059	A	G	18	58611827	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.54011603584636E-4	0.034
18	56279059	A	T	18	58611827	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	4.95983604487527E-4	0.128
18	56279060	A	C	18	58611828	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	1.44195755027757E-4	0.144
18	56279060	A	G	18	58611828	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	7.15453117565806E-5	0.022
18	56279060	A	T	18	58611828	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	2.71795835476426E-4	0.088
18	56279061	A	C	18	58611829	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.0021311278404842	0.182
18	56279061	A	G	18	58611829	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00182832306102535	0.038
18	56279061	A	T	18	58611829	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00193402930666658	0.194
18	56295988	A	C	18	58628756	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.0508842555909E-5	0.008
18	56295988	A	G	18	58628756	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	9.0508842555909E-5	0.004
18	56295988	A	T	18	58628756	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	8.8789267879893E-5	0.0
18	56295989	T	A	18	58628757	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00903499165696811	0.048
18	56295989	T	C	18	58628757	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00955406869949695	0.036
18	56295989	T	G	18	58628757	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00955406869949695	0.04
18	56295990	A	C	18	58628758	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.98402031269567	0.794
18	56295990	A	G	18	58628758	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.97826174155023	0.814
18	56295990	A	T	18	58628758	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.980667040052909	0.774
18	56295991	C	A	18	58628759	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999706661150593	0.92
18	56295991	C	G	18	58628759	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.993805253836003	0.908
18	56295991	C	T	18	58628759	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.997774099735689	0.974
18	56295992	T	A	18	58628760	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.997478942658686	0.884
18	56295992	T	C	18	58628760	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.997399052471661	0.922
18	56295992	T	G	18	58628760	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.998548977650814	0.894
18	56295993	T	A	18	58628761	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.91149274005929	0.738
18	56295993	T	C	18	58628761	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.00266722593248702	0.144
18	56295993	T	G	18	58628761	y	y	intronic	ALPK2	.	.	intronic	ENSG00000198796	.	.	0.999148840647443	0.844
18	56295994	A	C	18	58628762	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999988247793601	0.914
18	56295994	A	G	18	58628762	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.98918007292081	0.63
18	56295994	A	T	18	58628762	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999988247793601	0.926
18	56295995	C	A	18	58628763	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999985532734767	0.934
18	56295995	C	G	18	58628763	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999985532734767	0.932
18	56295995	C	T	18	58628763	y	y	splicing	ALPK2	.	.	splicing	ENSG00000198796	.	.	0.999985532734767	0.934
18	56295996	T	A	18	58628764	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	0.00956612821116584	0.048
18	56295996	T	C	18	58628764	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	3.09152892818403E-4	0.12
18	56295996	T	G	18	58628764	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	0.016654219782843	0.13
18	56295997	T	A	18	58628765	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	0.296430208727002	0.592
18	56295997	T	C	18	58628765	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	0.536765427201344	0.494
18	56295997	T	G	18	58628765	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	0.422256030623204	0.6
18	56295998	T	A	18	58628766	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	0.0132492374381158	0.318
18	56295998	T	C	18	58628766	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	4.19082391672826E-4	0.02
18	56295998	T	G	18	58628766	y	y	UTR5	ALPK2	.	.	UTR5	ENSG00000198796	.	.	7.03687832723504E-5	0.0
18	56338039	T	A	18	58670807	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon2:c.A179T:p.Q60L;	ncRNA_exonic	ENSG00000267226	.	.	8.2785988104976E-4	0.076
18	56338039	T	C	18	58670807	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon2:c.A179G:p.Q60R;	ncRNA_exonic	ENSG00000267226	.	.	8.2785988104976E-4	0.018
18	56338039	T	G	18	58670807	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon2:c.A179C:p.Q60P;	ncRNA_exonic	ENSG00000267226	.	.	8.2785988104976E-4	0.018
18	56338040	G	A	18	58670808	y	n	exonic	LOC101927322	stopgain SNV	LOC101927322:NM_001289967:exon2:c.C178T:p.Q60X;	ncRNA_exonic	ENSG00000267226	.	.	1.81532097565074E-4	0.002
18	56338040	G	C	18	58670808	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon2:c.C178G:p.Q60E;	ncRNA_exonic	ENSG00000267226	.	.	1.35931931987447E-4	0.004
18	56338040	G	T	18	58670808	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon2:c.C178A:p.Q60K;	ncRNA_exonic	ENSG00000267226	.	.	1.35931931987447E-4	0.002
18	56338041	C	A	18	58670809	y	n	splicing	LOC101927322(NM_001289967:exon3:c.178-1G>T)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon3:c.410-1G>T)	.	.	5.67891142965171E-5	0.0
18	56338041	C	G	18	58670809	y	n	splicing	LOC101927322(NM_001289967:exon3:c.178-1G>C)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon3:c.410-1G>C)	.	.	3.951189346585E-5	0.0
18	56338041	C	T	18	58670809	y	n	splicing	LOC101927322(NM_001289967:exon3:c.178-1G>A)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon3:c.410-1G>A)	.	.	5.67891142965171E-5	0.0
18	56338042	T	A	18	58670810	y	n	splicing	LOC101927322(NM_001289967:exon3:c.178-2A>T)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon3:c.410-2A>T)	.	.	1.25995508911032E-4	0.0
18	56338042	T	C	18	58670810	y	n	splicing	LOC101927322(NM_001289967:exon3:c.178-2A>G)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon3:c.410-2A>G)	.	.	1.27663618654402E-4	0.0
18	56338042	T	G	18	58670810	y	n	splicing	LOC101927322(NM_001289967:exon3:c.178-2A>C)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon3:c.410-2A>C)	.	.	1.27663618654402E-4	0.0
18	56338043	A	C	18	58670811	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	6.96737020304725E-5	0.0
18	56338043	A	G	18	58670811	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	6.96737020304725E-5	0.0
18	56338043	A	T	18	58670811	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.20713018245989E-4	0.0
18	56338044	A	C	18	58670812	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	9.26351819982407E-5	0.0
18	56338044	A	G	18	58670812	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	9.26351819982407E-5	0.002
18	56338044	A	T	18	58670812	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.71941710566322E-4	0.0
18	56338045	A	C	18	58670813	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.2709332397549E-4	0.002
18	56338045	A	G	18	58670813	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.2709332397549E-4	0.0
18	56338045	A	T	18	58670813	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.2709332397549E-4	0.0
18	56338046	A	C	18	58670814	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	2.7829240274771E-5	0.0
18	56338046	A	G	18	58670814	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	2.7829240274771E-5	0.0
18	56338046	A	T	18	58670814	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	2.7829240274771E-5	0.0
18	56338047	A	C	18	58670815	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	5.69439264402225E-5	0.0
18	56338047	A	G	18	58670815	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	5.69439264402225E-5	0.0
18	56338047	A	T	18	58670815	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	5.69439264402225E-5	0.0
18	56338048	C	A	18	58670816	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	6.27477746119029E-5	0.0
18	56338048	C	G	18	58670816	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	2.33815804894828E-5	0.0
18	56338048	C	T	18	58670816	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	6.27477746119029E-5	0.0
18	56338049	A	C	18	58670817	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	6.29590443248427E-5	0.0
18	56338049	A	G	18	58670817	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	6.29590443248427E-5	0.0
18	56338049	A	T	18	58670817	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	6.29590443248427E-5	0.0
18	56338050	A	C	18	58670818	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.44549828553928E-4	0.002
18	56338050	A	G	18	58670818	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.44549828553928E-4	0.002
18	56338050	A	T	18	58670818	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.42661107546672E-4	0.0
18	56338051	T	A	18	58670819	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	7.01315188657279E-5	0.0
18	56338051	T	C	18	58670819	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	7.01315188657279E-5	0.0
18	56338051	T	G	18	58670819	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	7.01315188657279E-5	0.0
18	56338052	C	A	18	58670820	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.17425266746205E-4	0.0
18	56338052	C	G	18	58670820	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	9.07434014008558E-5	0.0
18	56338052	C	T	18	58670820	y	n	intronic	LOC101927322	.	.	ncRNA_intronic	ENSG00000267226	.	.	1.17425266746205E-4	0.0
18	56338693	C	A	18	58671461	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	5.6714355815838E-5	0.002
18	56338693	C	G	18	58671461	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	5.6714355815838E-5	0.006
18	56338693	C	T	18	58671461	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	5.6714355815838E-5	0.0
18	56338694	G	A	18	58671462	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	9.97339794177905E-5	0.002
18	56338694	G	C	18	58671462	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	6.09184747739173E-5	0.0
18	56338694	G	T	18	58671462	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	7.08841829632718E-5	0.0
18	56338695	G	A	18	58671463	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	5.69439264402225E-5	0.0
18	56338695	G	C	18	58671463	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	5.69439264402225E-5	0.0
18	56338695	G	T	18	58671463	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	5.69439264402225E-5	0.0
18	56338696	C	A	18	58671464	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	6.09184747739173E-5	0.0
18	56338696	C	G	18	58671464	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	4.22200193920596E-5	0.0
18	56338696	C	T	18	58671464	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	6.09184747739173E-5	0.0
18	56338697	A	C	18	58671465	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	1.20467738660625E-4	0.002
18	56338697	A	G	18	58671465	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	1.20467738660625E-4	0.002
18	56338697	A	T	18	58671465	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	1.40583297660189E-4	0.008
18	56338698	A	C	18	58671466	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	1.40583297660189E-4	0.01
18	56338698	A	G	18	58671466	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	1.40583297660189E-4	0.006
18	56338698	A	T	18	58671466	y	n	UTR5	MALT1	.	.	ncRNA_UTR5	ENSG00000172175	.	.	9.61428803656778E-5	0.004
18	56338699	A	C	18	58671467	y	n	splicing	LOC101927322(NM_001289967:exon2:c.177+2T>G)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon2:c.409+2T>G)	.	.	1.40583297660189E-4	0.068
18	56338699	A	G	18	58671467	y	n	splicing	LOC101927322(NM_001289967:exon2:c.177+2T>C)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon2:c.409+2T>C)	.	.	1.40583297660189E-4	0.044
18	56338699	A	T	18	58671467	y	n	splicing	LOC101927322(NM_001289967:exon2:c.177+2T>A)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon2:c.409+2T>A)	.	.	9.61428803656778E-5	0.01
18	56338700	C	A	18	58671468	y	n	splicing	LOC101927322(NM_001289967:exon2:c.177+1G>T)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon2:c.409+1G>T)	.	.	0.00430955476585136	0.028
18	56338700	C	G	18	58671468	y	n	splicing	LOC101927322(NM_001289967:exon2:c.177+1G>C)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon2:c.409+1G>C)	.	.	0.00435466241603455	0.02
18	56338700	C	T	18	58671468	y	n	splicing	LOC101927322(NM_001289967:exon2:c.177+1G>A)	.	.	ncRNA_splicing	ENSG00000267226(ENST00000588144:exon2:c.409+1G>A)	.	.	0.00430955476585136	0.024
18	56338701	C	A	18	58671469	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon1:c.G177T:p.Q59H;	ncRNA_exonic	ENSG00000267226	.	.	8.2785988104976E-4	0.012
18	56338701	C	G	18	58671469	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon1:c.G177C:p.Q59H;	ncRNA_exonic	ENSG00000267226	.	.	8.2785988104976E-4	0.012
18	56338701	C	T	18	58671469	y	n	exonic	LOC101927322	synonymous SNV	LOC101927322:NM_001289967:exon1:c.G177A:p.Q59Q;	ncRNA_exonic	ENSG00000267226	.	.	8.1925445723083E-4	0.016
18	56338702	T	A	18	58671470	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon1:c.A176T:p.Q59L;	ncRNA_exonic	ENSG00000267226	.	.	0.00104523135912088	0.008
18	56338702	T	C	18	58671470	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon1:c.A176G:p.Q59R;	ncRNA_exonic	ENSG00000267226	.	.	0.00115202640557102	0.012
18	56338702	T	G	18	58671470	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon1:c.A176C:p.Q59P;	ncRNA_exonic	ENSG00000267226	.	.	0.00115202640557102	0.012
18	56338703	G	A	18	58671471	y	n	exonic	LOC101927322	stopgain SNV	LOC101927322:NM_001289967:exon1:c.C175T:p.Q59X;	ncRNA_exonic	ENSG00000267226	.	.	0.00430955476585136	0.046
18	56338703	G	C	18	58671471	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon1:c.C175G:p.Q59E;	ncRNA_exonic	ENSG00000267226	.	.	0.00430955476585136	0.034
18	56338703	G	T	18	58671471	y	n	exonic	LOC101927322	nonsynonymous SNV	LOC101927322:NM_001289967:exon1:c.C175A:p.Q59K;	ncRNA_exonic	ENSG00000267226	.	.	0.00430955476585136	0.044
18	56339082	C	A	18	58671850	y	n	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon1:c.C207A:p.L69L;MALT1:NM_173844:exon1:c.C207A:p.L69L;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.C207A:p.L69L;ENSG00000172175:ENST00000345724:exon1:c.C207A:p.L69L;	7.85050161016362E-4	0.012
18	56339082	C	G	18	58671850	y	n	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon1:c.C207G:p.L69L;MALT1:NM_173844:exon1:c.C207G:p.L69L;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.C207G:p.L69L;ENSG00000172175:ENST00000345724:exon1:c.C207G:p.L69L;	7.41172501170758E-4	0.018
18	56339082	C	T	18	58671850	y	n	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon1:c.C207T:p.L69L;MALT1:NM_173844:exon1:c.C207T:p.L69L;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.C207T:p.L69L;ENSG00000172175:ENST00000345724:exon1:c.C207T:p.L69L;	0.0205703399595787	0.34
18	56339083	A	C	18	58671851	y	n	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon1:c.A208C:p.S70R;MALT1:NM_173844:exon1:c.A208C:p.S70R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.A208C:p.S70R;ENSG00000172175:ENST00000345724:exon1:c.A208C:p.S70R;	0.972723394743886	0.906
18	56339083	A	G	18	58671851	y	n	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon1:c.A208G:p.S70G;MALT1:NM_173844:exon1:c.A208G:p.S70G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.A208G:p.S70G;ENSG00000172175:ENST00000345724:exon1:c.A208G:p.S70G;	0.999595026619163	0.978
18	56339083	A	T	18	58671851	y	n	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon1:c.A208T:p.S70C;MALT1:NM_173844:exon1:c.A208T:p.S70C;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.A208T:p.S70C;ENSG00000172175:ENST00000345724:exon1:c.A208T:p.S70C;	0.999404493182173	0.966
18	56339084	G	A	18	58671852	y	n	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon1:c.G209A:p.S70N;MALT1:NM_173844:exon1:c.G209A:p.S70N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.G209A:p.S70N;ENSG00000172175:ENST00000345724:exon1:c.G209A:p.S70N;	0.999929195157692	0.976
18	56339084	G	C	18	58671852	y	n	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon1:c.G209C:p.S70T;MALT1:NM_173844:exon1:c.G209C:p.S70T;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.G209C:p.S70T;ENSG00000172175:ENST00000345724:exon1:c.G209C:p.S70T;	0.999993203802011	0.998
18	56339084	G	T	18	58671852	y	n	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon1:c.G209T:p.S70I;MALT1:NM_173844:exon1:c.G209T:p.S70I;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon1:c.G209T:p.S70I;ENSG00000172175:ENST00000345724:exon1:c.G209T:p.S70I;	0.999963315227121	0.998
18	56339085	G	A	18	58671853	y	n	splicing	MALT1(NM_006785:exon1:c.209+1G>A;NM_173844:exon1:c.209+1G>A)	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.999986675681007	0.934
18	56339085	G	C	18	58671853	y	n	splicing	MALT1(NM_006785:exon1:c.209+1G>C;NM_173844:exon1:c.209+1G>C)	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.999986675681007	0.934
18	56339085	G	T	18	58671853	y	n	splicing	MALT1(NM_006785:exon1:c.209+1G>T;NM_173844:exon1:c.209+1G>T)	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.999986675681007	0.934
18	56339086	T	A	18	58671854	y	n	splicing	MALT1(NM_006785:exon1:c.209+2T>A;NM_173844:exon1:c.209+2T>A)	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.999990155693597	0.926
18	56339086	T	C	18	58671854	y	n	splicing	MALT1(NM_006785:exon1:c.209+2T>C;NM_173844:exon1:c.209+2T>C)	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.999928972209748	0.864
18	56339086	T	G	18	58671854	y	n	splicing	MALT1(NM_006785:exon1:c.209+2T>G;NM_173844:exon1:c.209+2T>G)	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.999990155693597	0.926
18	56339087	G	A	18	58671855	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	5.80492279362009E-4	0.036
18	56339087	G	C	18	58671855	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.783138712161813	0.77
18	56339087	G	T	18	58671855	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.954115017831961	0.728
18	56339088	A	C	18	58671856	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.859927255503561	0.476
18	56339088	A	G	18	58671856	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.96839083580799	0.588
18	56339088	A	T	18	58671856	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.989764313177599	0.592
18	56339089	G	A	18	58671857	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.999474423863257	0.886
18	56339089	G	C	18	58671857	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.995385268621673	0.768
18	56339089	G	T	18	58671857	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	0.999451727601009	0.79
18	56339090	C	A	18	58671858	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	1.25147111810985E-4	0.066
18	56339090	C	G	18	58671858	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	2.02527770648803E-4	0.06
18	56339090	C	T	18	58671858	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	9.2051266499358E-6	0.052
18	56339091	T	A	18	58671859	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	3.39621958426576E-5	0.0
18	56339091	T	C	18	58671859	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	3.39621958426576E-5	0.0
18	56339091	T	G	18	58671859	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	3.39621958426576E-5	0.0
18	56339092	C	A	18	58671860	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	9.59028848257884E-5	0.0
18	56339092	C	G	18	58671860	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	1.0297496643326E-4	0.0
18	56339092	C	T	18	58671860	y	n	UTR5	LOC101927322	.	.	ncRNA_exonic	ENSG00000267226	.	.	9.59028848257884E-5	0.0
18	56339566	A	C	18	58672334	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	1.59464440059759E-4	0.01
18	56339566	A	G	18	58672334	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	1.59464440059759E-4	0.01
18	56339566	A	T	18	58672334	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	1.61188144420053E-4	0.016
18	56339567	A	C	18	58672335	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	2.7829240274771E-5	0.0
18	56339567	A	G	18	58672335	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	2.7829240274771E-5	0.0
18	56339567	A	T	18	58672335	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	2.7829240274771E-5	0.0
18	56339568	G	A	18	58672336	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	1.73401366462724E-4	0.002
18	56339568	G	C	18	58672336	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	1.05918261028706E-4	0.0
18	56339568	G	T	18	58672336	n	y	intronic	MALT1	.	.	UTR5	ENSG00000172175	.	.	1.73401366462724E-4	0.002
18	56339569	G	A	18	58672337	n	y	intronic	MALT1	.	.	splicing	ENSG00000172175	.	.	8.81175133602322E-5	0.004
18	56339569	G	C	18	58672337	n	y	intronic	MALT1	.	.	splicing	ENSG00000172175	.	.	5.0859375701175E-5	0.004
18	56339569	G	T	18	58672337	n	y	intronic	MALT1	.	.	splicing	ENSG00000172175	.	.	5.91796041982683E-5	0.004
18	56339570	T	A	18	58672338	n	y	intronic	MALT1	.	.	splicing	ENSG00000172175	.	.	9.90792379341904E-5	0.002
18	56339570	T	C	18	58672338	n	y	intronic	MALT1	.	.	splicing	ENSG00000172175	.	.	8.18429645671592E-5	0.002
18	56339570	T	G	18	58672338	n	y	intronic	MALT1	.	.	splicing	ENSG00000172175	.	.	8.18429645671592E-5	0.002
18	56339571	A	C	18	58672339	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.10223519165164E-4	0.004
18	56339571	A	G	18	58672339	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.10223519165164E-4	0.004
18	56339571	A	T	18	58672339	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.10223519165164E-4	0.004
18	56339572	T	A	18	58672340	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.37937584880357E-4	0.002
18	56339572	T	C	18	58672340	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	9.83907830182457E-5	0.002
18	56339572	T	G	18	58672340	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	9.83907830182457E-5	0.004
18	56339573	T	A	18	58672341	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	9.64040949660014E-5	0.004
18	56339573	T	C	18	58672341	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.17909087657908E-4	0.0
18	56339573	T	G	18	58672341	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	6.33379540533061E-5	0.0
18	56339574	G	A	18	58672342	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.38603341338827E-4	0.002
18	56339574	G	C	18	58672342	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.02728736892418E-4	0.002
18	56339574	G	T	18	58672342	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.02728736892418E-4	0.0
18	56339575	G	A	18	58672343	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.51591174045998E-4	0.008
18	56339575	G	C	18	58672343	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	7.74088084155096E-5	0.006
18	56339575	G	T	18	58672343	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	1.00961143325455E-4	0.008
18	56339576	G	A	18	58672344	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	7.01315188657279E-5	0.0
18	56339576	G	C	18	58672344	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	7.01315188657279E-5	0.0
18	56339576	G	T	18	58672344	n	y	intronic	MALT1	.	.	intronic	ENSG00000172175	.	.	7.01315188657279E-5	0.0
18	56348390	T	A	18	58681158	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999682888928632	0.99
18	56348390	T	C	18	58681158	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.59892907115886E-4	0.036
18	56348390	T	G	18	58681158	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.380878891318056	0.558
18	56348391	G	A	18	58681159	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00411990357792444	0.082
18	56348391	G	C	18	58681159	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.23852468580408E-4	0.022
18	56348391	G	T	18	58681159	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.04121705227659E-4	0.014
18	56348392	T	A	18	58681160	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.94444579424295	0.75
18	56348392	T	C	18	58681160	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00717103239606841	0.158
18	56348392	T	G	18	58681160	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.660613624922555	0.666
18	56348393	T	A	18	58681161	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99988311334408	0.908
18	56348393	T	C	18	58681161	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.5244354066945E-5	0.016
18	56348393	T	G	18	58681161	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0356631182334365	0.416
18	56348394	G	A	18	58681162	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.95504244667831E-4	0.014
18	56348394	G	C	18	58681162	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.02896395198271E-5	0.004
18	56348394	G	T	18	58681162	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.79460626224071E-5	0.0
18	56348395	C	A	18	58681163	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0488169431980835	0.11
18	56348395	C	G	18	58681163	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0298524148513504	0.11
18	56348395	C	T	18	58681163	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.13627332373854E-4	0.088
18	56348396	T	A	18	58681164	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998888439586976	0.868
18	56348396	T	C	18	58681164	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.804547701687335	0.522
18	56348396	T	G	18	58681164	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998815330045848	0.87
18	56348397	T	A	18	58681165	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.995498912087219	0.794
18	56348397	T	C	18	58681165	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0151445539113214	0.158
18	56348397	T	G	18	58681165	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.993661491025006	0.794
18	56348398	T	A	18	58681166	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.10294438032967E-4	0.042
18	56348398	T	C	18	58681166	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.16077624325299E-4	0.05
18	56348398	T	G	18	58681166	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.79109307635536E-4	0.046
18	56348399	C	A	18	58681167	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99337477605235	0.888
18	56348399	C	G	18	58681167	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999907171166859	0.966
18	56348399	C	T	18	58681167	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0690104358616048	0.114
18	56348400	A	C	18	58681168	y	y	splicing	MALT1(NM_006785:exon2:c.210-2A>C;NM_173844:exon2:c.210-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.210-2A>C;ENST00000345724:exon2:c.210-2A>C)	.	.	0.999988247793601	0.932
18	56348400	A	G	18	58681168	y	y	splicing	MALT1(NM_006785:exon2:c.210-2A>G;NM_173844:exon2:c.210-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.210-2A>G;ENST00000345724:exon2:c.210-2A>G)	.	.	0.999988247793601	0.932
18	56348400	A	T	18	58681168	y	y	splicing	MALT1(NM_006785:exon2:c.210-2A>T;NM_173844:exon2:c.210-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.210-2A>T;ENST00000345724:exon2:c.210-2A>T)	.	.	0.999988247793601	0.932
18	56348401	G	A	18	58681169	y	y	splicing	MALT1(NM_006785:exon2:c.210-1G>A;NM_173844:exon2:c.210-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.210-1G>A;ENST00000345724:exon2:c.210-1G>A)	.	.	0.999989072007339	0.934
18	56348401	G	C	18	58681169	y	y	splicing	MALT1(NM_006785:exon2:c.210-1G>C;NM_173844:exon2:c.210-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.210-1G>C;ENST00000345724:exon2:c.210-1G>C)	.	.	0.999989072007339	0.934
18	56348401	G	T	18	58681169	y	y	splicing	MALT1(NM_006785:exon2:c.210-1G>T;NM_173844:exon2:c.210-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.210-1G>T;ENST00000345724:exon2:c.210-1G>T)	.	.	0.999989072007339	0.934
18	56348402	T	A	18	58681170	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.T210A:p.S70R;MALT1:NM_173844:exon2:c.T210A:p.S70R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon2:c.T210A:p.S70R;ENSG00000172175:ENST00000345724:exon2:c.T210A:p.S70R;	7.67098361062295E-5	0.284
18	56348402	T	C	18	58681170	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon2:c.T210C:p.S70S;MALT1:NM_173844:exon2:c.T210C:p.S70S;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon2:c.T210C:p.S70S;ENSG00000172175:ENST00000345724:exon2:c.T210C:p.S70S;	3.46547766009446E-5	0.012
18	56348402	T	G	18	58681170	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.T210G:p.S70R;MALT1:NM_173844:exon2:c.T210G:p.S70R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon2:c.T210G:p.S70R;ENSG00000172175:ENST00000345724:exon2:c.T210G:p.S70R;	2.93776392233783E-4	0.346
18	56348403	T	A	18	58681171	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.T211A:p.C71S;MALT1:NM_173844:exon2:c.T211A:p.C71S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon2:c.T211A:p.C71S;ENSG00000172175:ENST00000345724:exon2:c.T211A:p.C71S;	0.0107810155014364	0.13
18	56348403	T	C	18	58681171	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.T211C:p.C71R;MALT1:NM_173844:exon2:c.T211C:p.C71R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon2:c.T211C:p.C71R;ENSG00000172175:ENST00000345724:exon2:c.T211C:p.C71R;	0.00196867333598583	0.124
18	56348403	T	G	18	58681171	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.T211G:p.C71G;MALT1:NM_173844:exon2:c.T211G:p.C71G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon2:c.T211G:p.C71G;ENSG00000172175:ENST00000345724:exon2:c.T211G:p.C71G;	0.00152565056946987	0.126
18	56348566	C	A	18	58681334	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.C374A:p.P125Q;MALT1:NM_173844:exon2:c.C374A:p.P125Q;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon2:c.C89A:p.P30Q;ENSG00000172175:ENST00000348428:exon2:c.C374A:p.P125Q;ENSG00000172175:ENST00000345724:exon2:c.C374A:p.P125Q;	0.912582622774649	0.83
18	56348566	C	G	18	58681334	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.C374G:p.P125R;MALT1:NM_173844:exon2:c.C374G:p.P125R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon2:c.C89G:p.P30R;ENSG00000172175:ENST00000348428:exon2:c.C374G:p.P125R;ENSG00000172175:ENST00000345724:exon2:c.C374G:p.P125R;	0.932069195094589	0.636
18	56348566	C	T	18	58681334	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.C374T:p.P125L;MALT1:NM_173844:exon2:c.C374T:p.P125L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon2:c.C89T:p.P30L;ENSG00000172175:ENST00000348428:exon2:c.C374T:p.P125L;ENSG00000172175:ENST00000345724:exon2:c.C374T:p.P125L;	0.998565909553145	0.85
18	56348567	A	C	18	58681335	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon2:c.A375C:p.P125P;MALT1:NM_173844:exon2:c.A375C:p.P125P;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000591792:exon2:c.A90C:p.P30P;ENSG00000172175:ENST00000348428:exon2:c.A375C:p.P125P;ENSG00000172175:ENST00000345724:exon2:c.A375C:p.P125P;	0.82108615671745	0.706
18	56348567	A	G	18	58681335	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon2:c.A375G:p.P125P;MALT1:NM_173844:exon2:c.A375G:p.P125P;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000591792:exon2:c.A90G:p.P30P;ENSG00000172175:ENST00000348428:exon2:c.A375G:p.P125P;ENSG00000172175:ENST00000345724:exon2:c.A375G:p.P125P;	0.944222656364935	0.758
18	56348567	A	T	18	58681335	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon2:c.A375T:p.P125P;MALT1:NM_173844:exon2:c.A375T:p.P125P;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000591792:exon2:c.A90T:p.P30P;ENSG00000172175:ENST00000348428:exon2:c.A375T:p.P125P;ENSG00000172175:ENST00000345724:exon2:c.A375T:p.P125P;	0.982509392164818	0.834
18	56348568	G	A	18	58681336	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.G376A:p.G126R;MALT1:NM_173844:exon2:c.G376A:p.G126R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon2:c.G91A:p.G31R;ENSG00000172175:ENST00000348428:exon2:c.G376A:p.G126R;ENSG00000172175:ENST00000345724:exon2:c.G376A:p.G126R;	0.999966892539799	0.984
18	56348568	G	C	18	58681336	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon2:c.G376C:p.G126R;MALT1:NM_173844:exon2:c.G376C:p.G126R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon2:c.G91C:p.G31R;ENSG00000172175:ENST00000348428:exon2:c.G376C:p.G126R;ENSG00000172175:ENST00000345724:exon2:c.G376C:p.G126R;	0.99999239343876	1.0
18	56348568	G	T	18	58681336	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon2:c.G376T:p.G126X;MALT1:NM_173844:exon2:c.G376T:p.G126X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000591792:exon2:c.G91T:p.G31X;ENSG00000172175:ENST00000348428:exon2:c.G376T:p.G126X;ENSG00000172175:ENST00000345724:exon2:c.G376T:p.G126X;	0.999983002167783	0.98
18	56348569	G	A	18	58681337	y	y	splicing	MALT1(NM_006785:exon2:c.376+1G>A;NM_173844:exon2:c.376+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.376+1G>A;ENST00000345724:exon2:c.376+1G>A;ENST00000591792:exon2:c.91+1G>A)	.	.	0.999989072007339	0.934
18	56348569	G	C	18	58681337	y	y	splicing	MALT1(NM_006785:exon2:c.376+1G>C;NM_173844:exon2:c.376+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.376+1G>C;ENST00000345724:exon2:c.376+1G>C;ENST00000591792:exon2:c.91+1G>C)	.	.	0.999989072007339	0.934
18	56348569	G	T	18	58681337	y	y	splicing	MALT1(NM_006785:exon2:c.376+1G>T;NM_173844:exon2:c.376+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.376+1G>T;ENST00000345724:exon2:c.376+1G>T;ENST00000591792:exon2:c.91+1G>T)	.	.	0.999989072007339	0.934
18	56348570	T	A	18	58681338	y	y	splicing	MALT1(NM_006785:exon2:c.376+2T>A;NM_173844:exon2:c.376+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.376+2T>A;ENST00000345724:exon2:c.376+2T>A;ENST00000591792:exon2:c.91+2T>A)	.	.	0.999988247793601	0.93
18	56348570	T	C	18	58681338	y	y	splicing	MALT1(NM_006785:exon2:c.376+2T>C;NM_173844:exon2:c.376+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.376+2T>C;ENST00000345724:exon2:c.376+2T>C;ENST00000591792:exon2:c.91+2T>C)	.	.	0.993826129542482	0.688
18	56348570	T	G	18	58681338	y	y	splicing	MALT1(NM_006785:exon2:c.376+2T>G;NM_173844:exon2:c.376+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon2:c.376+2T>G;ENST00000345724:exon2:c.376+2T>G;ENST00000591792:exon2:c.91+2T>G)	.	.	0.999988247793601	0.93
18	56348571	A	C	18	58681339	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.718300283652011	0.678
18	56348571	A	G	18	58681339	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0698322041489969	0.286
18	56348571	A	T	18	58681339	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.645442709002179	0.658
18	56348572	G	A	18	58681340	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.50538365840432E-4	0.052
18	56348572	G	C	18	58681340	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00330373673839663	0.116
18	56348572	G	T	18	58681340	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00165499001306765	0.06
18	56348573	G	A	18	58681341	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.990385166303004	0.628
18	56348573	G	C	18	58681341	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.9997926347709	0.884
18	56348573	G	T	18	58681341	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999401673260243	0.888
18	56348574	T	A	18	58681342	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0293836248435514	0.314
18	56348574	T	C	18	58681342	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0191675504156799	0.382
18	56348574	T	G	18	58681342	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0037717824935702	0.248
18	56348575	T	A	18	58681343	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.12748429799769E-4	0.0
18	56348575	T	C	18	58681343	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.02596073197967E-4	0.0
18	56348575	T	G	18	58681343	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.91727779625075E-5	0.008
18	56348576	T	A	18	58681344	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.46552627156223E-5	0.0
18	56348576	T	C	18	58681344	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.54512930648145E-5	0.0
18	56348576	T	G	18	58681344	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.63618347904412E-4	0.002
18	56363586	T	A	18	58696354	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.98607463775819E-5	0.024
18	56363586	T	C	18	58696354	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.14542501285371E-5	0.002
18	56363586	T	G	18	58696354	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.51103374328716E-5	0.078
18	56363587	T	A	18	58696355	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.09892498249695E-5	0.044
18	56363587	T	C	18	58696355	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.57410396607153E-5	0.0
18	56363587	T	G	18	58696355	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.18400634253738E-5	0.062
18	56363588	T	A	18	58696356	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.96615676614889E-5	0.032
18	56363588	T	C	18	58696356	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.84281000539009E-5	0.002
18	56363588	T	G	18	58696356	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.30006157960479E-5	0.03
18	56363589	T	A	18	58696357	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.36755612522005E-5	0.06
18	56363589	T	C	18	58696357	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.78692338691144E-5	0.0
18	56363589	T	G	18	58696357	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.78172267192341E-5	0.046
18	56363590	T	A	18	58696358	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.8374831202829E-5	0.028
18	56363590	T	C	18	58696358	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.71580858627564E-4	0.026
18	56363590	T	G	18	58696358	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.48544347384401E-5	0.038
18	56363591	T	A	18	58696359	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.64040656886743E-5	0.0
18	56363591	T	C	18	58696359	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.35465296786606E-5	0.0
18	56363591	T	G	18	58696359	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.88433354515416E-5	0.01
18	56363592	T	A	18	58696360	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.79564873299741E-5	0.008
18	56363592	T	C	18	58696360	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.35465296786606E-5	0.004
18	56363592	T	G	18	58696360	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.49246685262814E-5	0.024
18	56363593	T	A	18	58696361	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.47159979608598E-4	0.062
18	56363593	T	C	18	58696361	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.4569013824839E-5	0.01
18	56363593	T	G	18	58696361	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.51413922901248E-4	0.11
18	56363594	T	A	18	58696362	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.37643796623209E-5	0.0
18	56363594	T	C	18	58696362	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.35465296786606E-5	0.0
18	56363594	T	G	18	58696362	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.44428505705887E-5	0.034
18	56363595	T	A	18	58696363	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.29819051196177E-4	0.052
18	56363595	T	C	18	58696363	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.46678106306076E-4	0.056
18	56363595	T	G	18	58696363	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.654618593877711	0.468
18	56363596	A	C	18	58696364	y	y	splicing	MALT1(NM_006785:exon3:c.377-2A>C;NM_173844:exon3:c.377-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.377-2A>C;ENST00000345724:exon3:c.377-2A>C;ENST00000591792:exon3:c.92-2A>C)	.	.	0.999946188727699	0.936
18	56363596	A	G	18	58696364	y	y	splicing	MALT1(NM_006785:exon3:c.377-2A>G;NM_173844:exon3:c.377-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.377-2A>G;ENST00000345724:exon3:c.377-2A>G;ENST00000591792:exon3:c.92-2A>G)	.	.	0.999946188727699	0.936
18	56363596	A	T	18	58696364	y	y	splicing	MALT1(NM_006785:exon3:c.377-2A>T;NM_173844:exon3:c.377-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.377-2A>T;ENST00000345724:exon3:c.377-2A>T;ENST00000591792:exon3:c.92-2A>T)	.	.	0.999946188727699	0.944
18	56363597	G	A	18	58696365	y	y	splicing	MALT1(NM_006785:exon3:c.377-1G>A;NM_173844:exon3:c.377-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.377-1G>A;ENST00000345724:exon3:c.377-1G>A;ENST00000591792:exon3:c.92-1G>A)	.	.	0.999945530492988	0.89
18	56363597	G	C	18	58696365	y	y	splicing	MALT1(NM_006785:exon3:c.377-1G>C;NM_173844:exon3:c.377-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.377-1G>C;ENST00000345724:exon3:c.377-1G>C;ENST00000591792:exon3:c.92-1G>C)	.	.	0.99996748057446	0.908
18	56363597	G	T	18	58696365	y	y	splicing	MALT1(NM_006785:exon3:c.377-1G>T;NM_173844:exon3:c.377-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.377-1G>T;ENST00000345724:exon3:c.377-1G>T;ENST00000591792:exon3:c.92-1G>T)	.	.	0.99996748057446	0.906
18	56363598	G	A	18	58696366	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.G377A:p.G126E;MALT1:NM_173844:exon3:c.G377A:p.G126E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.G92A:p.G31E;ENSG00000172175:ENST00000348428:exon3:c.G377A:p.G126E;ENSG00000172175:ENST00000345724:exon3:c.G377A:p.G126E;	0.960067528070693	0.616
18	56363598	G	C	18	58696366	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.G377C:p.G126A;MALT1:NM_173844:exon3:c.G377C:p.G126A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.G92C:p.G31A;ENSG00000172175:ENST00000348428:exon3:c.G377C:p.G126A;ENSG00000172175:ENST00000345724:exon3:c.G377C:p.G126A;	0.223224441032016	0.492
18	56363598	G	T	18	58696366	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.G377T:p.G126V;MALT1:NM_173844:exon3:c.G377T:p.G126V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.G92T:p.G31V;ENSG00000172175:ENST00000348428:exon3:c.G377T:p.G126V;ENSG00000172175:ENST00000345724:exon3:c.G377T:p.G126V;	0.907295366423327	0.64
18	56363599	A	C	18	58696367	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon3:c.A378C:p.G126G;MALT1:NM_173844:exon3:c.A378C:p.G126G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.A93C:p.G31G;ENSG00000172175:ENST00000348428:exon3:c.A378C:p.G126G;ENSG00000172175:ENST00000345724:exon3:c.A378C:p.G126G;	0.00246993171174477	0.066
18	56363599	A	G	18	58696367	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon3:c.A378G:p.G126G;MALT1:NM_173844:exon3:c.A378G:p.G126G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.A93G:p.G31G;ENSG00000172175:ENST00000348428:exon3:c.A378G:p.G126G;ENSG00000172175:ENST00000345724:exon3:c.A378G:p.G126G;	0.0019971387826237	0.01
18	56363599	A	T	18	58696367	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon3:c.A378T:p.G126G;MALT1:NM_173844:exon3:c.A378T:p.G126G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.A93T:p.G31G;ENSG00000172175:ENST00000348428:exon3:c.A378T:p.G126G;ENSG00000172175:ENST00000345724:exon3:c.A378T:p.G126G;	0.00177574048441781	0.014
18	56363717	G	A	18	58696485	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.G496A:p.E166K;MALT1:NM_173844:exon3:c.G496A:p.E166K;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.G211A:p.E71K;ENSG00000172175:ENST00000348428:exon3:c.G496A:p.E166K;ENSG00000172175:ENST00000345724:exon3:c.G496A:p.E166K;	0.926757515425575	0.77
18	56363717	G	C	18	58696485	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.G496C:p.E166Q;MALT1:NM_173844:exon3:c.G496C:p.E166Q;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.G211C:p.E71Q;ENSG00000172175:ENST00000348428:exon3:c.G496C:p.E166Q;ENSG00000172175:ENST00000345724:exon3:c.G496C:p.E166Q;	0.9352135221815	0.676
18	56363717	G	T	18	58696485	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon3:c.G496T:p.E166X;MALT1:NM_173844:exon3:c.G496T:p.E166X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000591792:exon3:c.G211T:p.E71X;ENSG00000172175:ENST00000348428:exon3:c.G496T:p.E166X;ENSG00000172175:ENST00000345724:exon3:c.G496T:p.E166X;	0.995362341436689	0.77
18	56363718	A	C	18	58696486	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.A497C:p.E166A;MALT1:NM_173844:exon3:c.A497C:p.E166A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.A212C:p.E71A;ENSG00000172175:ENST00000348428:exon3:c.A497C:p.E166A;ENSG00000172175:ENST00000345724:exon3:c.A497C:p.E166A;	0.996157498335406	0.808
18	56363718	A	G	18	58696486	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.A497G:p.E166G;MALT1:NM_173844:exon3:c.A497G:p.E166G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.A212G:p.E71G;ENSG00000172175:ENST00000348428:exon3:c.A497G:p.E166G;ENSG00000172175:ENST00000345724:exon3:c.A497G:p.E166G;	0.965986885364517	0.772
18	56363718	A	T	18	58696486	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.A497T:p.E166V;MALT1:NM_173844:exon3:c.A497T:p.E166V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.A212T:p.E71V;ENSG00000172175:ENST00000348428:exon3:c.A497T:p.E166V;ENSG00000172175:ENST00000345724:exon3:c.A497T:p.E166V;	0.999781319924592	0.994
18	56363719	G	A	18	58696487	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon3:c.G498A:p.E166E;MALT1:NM_173844:exon3:c.G498A:p.E166E;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.G213A:p.E71E;ENSG00000172175:ENST00000348428:exon3:c.G498A:p.E166E;ENSG00000172175:ENST00000345724:exon3:c.G498A:p.E166E;	0.99869570202316	0.978
18	56363719	G	C	18	58696487	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.G498C:p.E166D;MALT1:NM_173844:exon3:c.G498C:p.E166D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.G213C:p.E71D;ENSG00000172175:ENST00000348428:exon3:c.G498C:p.E166D;ENSG00000172175:ENST00000345724:exon3:c.G498C:p.E166D;	0.99999142185352	1.0
18	56363719	G	T	18	58696487	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon3:c.G498T:p.E166D;MALT1:NM_173844:exon3:c.G498T:p.E166D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon3:c.G213T:p.E71D;ENSG00000172175:ENST00000348428:exon3:c.G498T:p.E166D;ENSG00000172175:ENST00000345724:exon3:c.G498T:p.E166D;	0.99998851376936	0.998
18	56363720	G	A	18	58696488	y	y	splicing	MALT1(NM_006785:exon3:c.498+1G>A;NM_173844:exon3:c.498+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.498+1G>A;ENST00000345724:exon3:c.498+1G>A;ENST00000591792:exon3:c.213+1G>A)	.	.	0.999986675681007	0.944
18	56363720	G	C	18	58696488	y	y	splicing	MALT1(NM_006785:exon3:c.498+1G>C;NM_173844:exon3:c.498+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.498+1G>C;ENST00000345724:exon3:c.498+1G>C;ENST00000591792:exon3:c.213+1G>C)	.	.	0.999986675681007	0.944
18	56363720	G	T	18	58696488	y	y	splicing	MALT1(NM_006785:exon3:c.498+1G>T;NM_173844:exon3:c.498+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.498+1G>T;ENST00000345724:exon3:c.498+1G>T;ENST00000591792:exon3:c.213+1G>T)	.	.	0.999986675681007	0.944
18	56363721	T	A	18	58696489	y	y	splicing	MALT1(NM_006785:exon3:c.498+2T>A;NM_173844:exon3:c.498+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.498+2T>A;ENST00000345724:exon3:c.498+2T>A;ENST00000591792:exon3:c.213+2T>A)	.	.	0.999978952611685	0.934
18	56363721	T	C	18	58696489	y	y	splicing	MALT1(NM_006785:exon3:c.498+2T>C;NM_173844:exon3:c.498+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.498+2T>C;ENST00000345724:exon3:c.498+2T>C;ENST00000591792:exon3:c.213+2T>C)	.	.	0.980438118074251	0.632
18	56363721	T	G	18	58696489	y	y	splicing	MALT1(NM_006785:exon3:c.498+2T>G;NM_173844:exon3:c.498+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon3:c.498+2T>G;ENST00000345724:exon3:c.498+2T>G;ENST00000591792:exon3:c.213+2T>G)	.	.	0.99994568797423	0.932
18	56363722	A	C	18	58696490	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.997923717002326	0.892
18	56363722	A	G	18	58696490	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.952715965388195	0.634
18	56363722	A	T	18	58696490	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999530419025846	0.93
18	56363723	A	C	18	58696491	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0316036947635226	0.334
18	56363723	A	G	18	58696491	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.266663199264075	0.534
18	56363723	A	T	18	58696491	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.199262481001496	0.424
18	56363724	T	A	18	58696492	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.95016095101055E-4	0.026
18	56363724	T	C	18	58696492	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00121812477774814	0.022
18	56363724	T	G	18	58696492	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.13331549093228E-4	0.084
18	56363725	T	A	18	58696493	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0890548783441955	0.19
18	56363725	T	C	18	58696493	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.112583943321513	0.316
18	56363725	T	G	18	58696493	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00251093697496136	0.15
18	56363726	T	A	18	58696494	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.19130693254826E-5	0.03
18	56363726	T	C	18	58696494	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.19130693254826E-5	0.084
18	56363726	T	G	18	58696494	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.19130693254826E-5	0.09
18	56363727	T	A	18	58696495	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00117249935995605	0.03
18	56363727	T	C	18	58696495	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.96609564087314E-4	0.022
18	56363727	T	G	18	58696495	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00116491426547665	0.026
18	56367661	A	C	18	58700429	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.27643357398189E-5	0.002
18	56367661	A	G	18	58700429	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.38085762334421E-5	0.004
18	56367661	A	T	18	58700429	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.73533932341786E-5	0.01
18	56367662	T	A	18	58700430	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.103438317738157	0.414
18	56367662	T	C	18	58700430	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0010019761801566	0.04
18	56367662	T	G	18	58700430	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999149644276922	0.95
18	56367663	T	A	18	58700431	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.916104442664429	0.754
18	56367663	T	C	18	58700431	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00411201256423081	0.076
18	56367663	T	G	18	58700431	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.795603972206576	0.67
18	56367664	C	A	18	58700432	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.94765326665304E-4	0.02
18	56367664	C	G	18	58700432	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.66428279527603E-5	0.02
18	56367664	C	T	18	58700432	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.25030533899025E-5	0.0
18	56367665	T	A	18	58700433	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.010594118766027	0.174
18	56367665	T	C	18	58700433	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.59770799490077E-5	0.01
18	56367665	T	G	18	58700433	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.15136462950248E-4	0.154
18	56367666	T	A	18	58700434	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0678760615287594	0.29
18	56367666	T	C	18	58700434	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.67774261538815E-5	0.036
18	56367666	T	G	18	58700434	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0190239607688516	0.23
18	56367667	T	A	18	58700435	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00114414362256665	0.108
18	56367667	T	C	18	58700435	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.7430513048849E-5	0.004
18	56367667	T	G	18	58700435	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00120174803605336	0.158
18	56367668	C	A	18	58700436	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.14652295939521E-4	0.032
18	56367668	C	G	18	58700436	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.00051795270322E-4	0.03
18	56367668	C	T	18	58700436	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.63386721343731E-5	0.0
18	56367669	A	C	18	58700437	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.7755779690778E-4	0.004
18	56367669	A	G	18	58700437	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.33265433110249E-4	0.006
18	56367669	A	T	18	58700437	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00136139553972565	0.01
18	56367670	C	A	18	58700438	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.870977032666761	0.608
18	56367670	C	G	18	58700438	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999946013214316	0.968
18	56367670	C	T	18	58700438	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0112131973748688	0.24
18	56367671	A	C	18	58700439	y	y	splicing	MALT1(NM_006785:exon4:c.499-2A>C;NM_173844:exon4:c.499-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.499-2A>C;ENST00000345724:exon4:c.499-2A>C;ENST00000591792:exon4:c.214-2A>C)	.	.	0.999988510283643	0.934
18	56367671	A	G	18	58700439	y	y	splicing	MALT1(NM_006785:exon4:c.499-2A>G;NM_173844:exon4:c.499-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.499-2A>G;ENST00000345724:exon4:c.499-2A>G;ENST00000591792:exon4:c.214-2A>G)	.	.	0.999988510283643	0.934
18	56367671	A	T	18	58700439	y	y	splicing	MALT1(NM_006785:exon4:c.499-2A>T;NM_173844:exon4:c.499-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.499-2A>T;ENST00000345724:exon4:c.499-2A>T;ENST00000591792:exon4:c.214-2A>T)	.	.	0.9999784785434	0.938
18	56367672	G	A	18	58700440	y	y	splicing	MALT1(NM_006785:exon4:c.499-1G>A;NM_173844:exon4:c.499-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.499-1G>A;ENST00000345724:exon4:c.499-1G>A;ENST00000591792:exon4:c.214-1G>A)	.	.	0.999971352136834	0.9
18	56367672	G	C	18	58700440	y	y	splicing	MALT1(NM_006785:exon4:c.499-1G>C;NM_173844:exon4:c.499-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.499-1G>C;ENST00000345724:exon4:c.499-1G>C;ENST00000591792:exon4:c.214-1G>C)	.	.	0.999955306461558	0.87
18	56367672	G	T	18	58700440	y	y	splicing	MALT1(NM_006785:exon4:c.499-1G>T;NM_173844:exon4:c.499-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.499-1G>T;ENST00000345724:exon4:c.499-1G>T;ENST00000591792:exon4:c.214-1G>T)	.	.	0.999956456047445	0.886
18	56367673	A	C	18	58700441	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.A499C:p.I167L;MALT1:NM_173844:exon4:c.A499C:p.I167L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon4:c.A214C:p.I72L;ENSG00000172175:ENST00000348428:exon4:c.A499C:p.I167L;ENSG00000172175:ENST00000345724:exon4:c.A499C:p.I167L;	0.00234258701368289	0.118
18	56367673	A	G	18	58700441	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.A499G:p.I167V;MALT1:NM_173844:exon4:c.A499G:p.I167V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon4:c.A214G:p.I72V;ENSG00000172175:ENST00000348428:exon4:c.A499G:p.I167V;ENSG00000172175:ENST00000345724:exon4:c.A499G:p.I167V;	2.55638355715536E-4	0.034
18	56367673	A	T	18	58700441	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.A499T:p.I167F;MALT1:NM_173844:exon4:c.A499T:p.I167F;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon4:c.A214T:p.I72F;ENSG00000172175:ENST00000348428:exon4:c.A499T:p.I167F;ENSG00000172175:ENST00000345724:exon4:c.A499T:p.I167F;	0.298561423218082	0.434
18	56367674	T	A	18	58700442	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.T500A:p.I167N;MALT1:NM_173844:exon4:c.T500A:p.I167N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon4:c.T215A:p.I72N;ENSG00000172175:ENST00000348428:exon4:c.T500A:p.I167N;ENSG00000172175:ENST00000345724:exon4:c.T500A:p.I167N;	0.25833464285799	0.33
18	56367674	T	C	18	58700442	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.T500C:p.I167T;MALT1:NM_173844:exon4:c.T500C:p.I167T;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon4:c.T215C:p.I72T;ENSG00000172175:ENST00000348428:exon4:c.T500C:p.I167T;ENSG00000172175:ENST00000345724:exon4:c.T500C:p.I167T;	0.228793473455341	0.268
18	56367674	T	G	18	58700442	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.T500G:p.I167S;MALT1:NM_173844:exon4:c.T500G:p.I167S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000591792:exon4:c.T215G:p.I72S;ENSG00000172175:ENST00000348428:exon4:c.T500G:p.I167S;ENSG00000172175:ENST00000345724:exon4:c.T500G:p.I167S;	0.141736861476328	0.368
18	56367821	A	C	18	58700589	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.A647C:p.Q216P;MALT1:NM_173844:exon4:c.A647C:p.Q216P;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon4:c.A647C:p.Q216P;ENSG00000172175:ENST00000345724:exon4:c.A647C:p.Q216P;	3.85825391796819E-6	0.008
18	56367821	A	G	18	58700589	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.A647G:p.Q216R;MALT1:NM_173844:exon4:c.A647G:p.Q216R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon4:c.A647G:p.Q216R;ENSG00000172175:ENST00000345724:exon4:c.A647G:p.Q216R;	1.12722423228467E-5	0.004
18	56367821	A	T	18	58700589	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.A647T:p.Q216L;MALT1:NM_173844:exon4:c.A647T:p.Q216L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon4:c.A647T:p.Q216L;ENSG00000172175:ENST00000345724:exon4:c.A647T:p.Q216L;	1.09293557842631E-4	0.058
18	56367822	G	A	18	58700590	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon4:c.G648A:p.Q216Q;MALT1:NM_173844:exon4:c.G648A:p.Q216Q;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon4:c.G648A:p.Q216Q;ENSG00000172175:ENST00000345724:exon4:c.G648A:p.Q216Q;	6.17594317613577E-5	0.066
18	56367822	G	C	18	58700590	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.G648C:p.Q216H;MALT1:NM_173844:exon4:c.G648C:p.Q216H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon4:c.G648C:p.Q216H;ENSG00000172175:ENST00000345724:exon4:c.G648C:p.Q216H;	2.82257985559896E-5	0.002
18	56367822	G	T	18	58700590	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.G648T:p.Q216H;MALT1:NM_173844:exon4:c.G648T:p.Q216H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon4:c.G648T:p.Q216H;ENSG00000172175:ENST00000345724:exon4:c.G648T:p.Q216H;	1.3916588239645E-4	0.034
18	56367823	A	C	18	58700591	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon4:c.A649C:p.R217R;MALT1:NM_173844:exon4:c.A649C:p.R217R;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon4:c.A649C:p.R217R;ENSG00000172175:ENST00000345724:exon4:c.A649C:p.R217R;	5.22649463956912E-5	0.0
18	56367823	A	G	18	58700591	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon4:c.A649G:p.R217G;MALT1:NM_173844:exon4:c.A649G:p.R217G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon4:c.A649G:p.R217G;ENSG00000172175:ENST00000345724:exon4:c.A649G:p.R217G;	4.34157378637461E-5	0.03
18	56367823	A	T	18	58700591	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon4:c.A649T:p.R217X;MALT1:NM_173844:exon4:c.A649T:p.R217X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon4:c.A649T:p.R217X;ENSG00000172175:ENST00000345724:exon4:c.A649T:p.R217X;	1.20432194692071E-4	0.056
18	56367824	G	A	18	58700592	y	y	splicing	MALT1(NM_006785:exon4:c.649+1G>A;NM_173844:exon4:c.649+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.649+1G>A;ENST00000345724:exon4:c.649+1G>A)	.	.	0.999965143305126	0.85
18	56367824	G	C	18	58700592	y	y	splicing	MALT1(NM_006785:exon4:c.649+1G>C;NM_173844:exon4:c.649+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.649+1G>C;ENST00000345724:exon4:c.649+1G>C)	.	.	0.999965661484771	0.836
18	56367824	G	T	18	58700592	y	y	splicing	MALT1(NM_006785:exon4:c.649+1G>T;NM_173844:exon4:c.649+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.649+1G>T;ENST00000345724:exon4:c.649+1G>T)	.	.	0.999965143305126	0.834
18	56367825	T	A	18	58700593	y	y	splicing	MALT1(NM_006785:exon4:c.649+2T>A;NM_173844:exon4:c.649+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.649+2T>A;ENST00000345724:exon4:c.649+2T>A)	.	.	0.999972155025474	0.854
18	56367825	T	C	18	58700593	y	y	splicing	MALT1(NM_006785:exon4:c.649+2T>C;NM_173844:exon4:c.649+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.649+2T>C;ENST00000345724:exon4:c.649+2T>C)	.	.	0.94222541096027	0.556
18	56367825	T	G	18	58700593	y	y	splicing	MALT1(NM_006785:exon4:c.649+2T>G;NM_173844:exon4:c.649+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon4:c.649+2T>G;ENST00000345724:exon4:c.649+2T>G)	.	.	0.999969255906173	0.864
18	56367826	A	C	18	58700594	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999836132457976	0.89
18	56367826	A	G	18	58700594	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00461540592210372	0.204
18	56367826	A	T	18	58700594	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999669164823808	0.884
18	56367827	A	C	18	58700595	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.811761684053093	0.614
18	56367827	A	G	18	58700595	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.980557333033699	0.784
18	56367827	A	T	18	58700595	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.962843264392382	0.732
18	56367828	G	A	18	58700596	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999973106559045	0.964
18	56367828	G	C	18	58700596	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999993848640733	0.976
18	56367828	G	T	18	58700596	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999985417230147	0.982
18	56367829	T	A	18	58700597	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.52667642550839	0.536
18	56367829	T	C	18	58700597	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.677855957631124	0.538
18	56367829	T	G	18	58700597	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.907373024299149	0.69
18	56367830	A	C	18	58700598	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.87680416612575E-5	0.0
18	56367830	A	G	18	58700598	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.87680416612575E-5	0.0
18	56367830	A	T	18	58700598	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.69749191349737E-5	0.0
18	56367831	A	C	18	58700599	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.00825321707133E-4	0.0
18	56367831	A	G	18	58700599	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.57006970457889E-5	0.0
18	56367831	A	T	18	58700599	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.83319824895334E-4	0.0
18	56376598	T	A	18	58709366	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.314541087984859	0.552
18	56376598	T	C	18	58709366	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00516719889339877	0.122
18	56376598	T	G	18	58709366	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.291698049173835	0.542
18	56376599	T	A	18	58709367	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.133861267161659	0.464
18	56376599	T	C	18	58709367	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00200453208521226	0.206
18	56376599	T	G	18	58709367	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.467538010471515	0.438
18	56376600	T	A	18	58709368	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0243983536494073	0.444
18	56376600	T	C	18	58709368	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0044691542200334	0.132
18	56376600	T	G	18	58709368	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.11043433428365	0.482
18	56376601	T	A	18	58709369	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0717029645254317	0.472
18	56376601	T	C	18	58709369	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.38971375499375E-4	0.154
18	56376601	T	G	18	58709369	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.113969001810934	0.466
18	56376602	A	C	18	58709370	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.02076840081145E-4	0.01
18	56376602	A	G	18	58709370	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.99876588956989E-4	0.002
18	56376602	A	T	18	58709370	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.21933030175779E-4	0.006
18	56376603	A	C	18	58709371	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.33946087576318E-4	0.042
18	56376603	A	G	18	58709371	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998310947905341	0.918
18	56376603	A	T	18	58709371	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.8511588558197E-4	0.05
18	56376604	T	A	18	58709372	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0428874820633793	0.406
18	56376604	T	C	18	58709372	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.22021392572507E-4	0.054
18	56376604	T	G	18	58709372	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999893571184363	0.982
18	56376605	T	A	18	58709373	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.883082395446253	0.372
18	56376605	T	C	18	58709373	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00240827468200547	0.156
18	56376605	T	G	18	58709373	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.893782068429304	0.444
18	56376606	T	A	18	58709374	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.65625925030578E-4	0.054
18	56376606	T	C	18	58709374	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.37242136867548E-4	0.016
18	56376606	T	G	18	58709374	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.77064595698832E-4	0.032
18	56376607	A	C	18	58709375	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.57306671703103E-5	0.074
18	56376607	A	G	18	58709375	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0529480273448112	0.292
18	56376607	A	T	18	58709375	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.63274992864141E-4	0.008
18	56376608	A	C	18	58709376	y	y	splicing	MALT1(NM_006785:exon5:c.650-2A>C;NM_173844:exon5:c.650-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.650-2A>C;ENST00000345724:exon5:c.650-2A>C)	.	.	0.99993928974862	0.958
18	56376608	A	G	18	58709376	y	y	splicing	MALT1(NM_006785:exon5:c.650-2A>G;NM_173844:exon5:c.650-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.650-2A>G;ENST00000345724:exon5:c.650-2A>G)	.	.	0.99993928974862	0.958
18	56376608	A	T	18	58709376	y	y	splicing	MALT1(NM_006785:exon5:c.650-2A>T;NM_173844:exon5:c.650-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.650-2A>T;ENST00000345724:exon5:c.650-2A>T)	.	.	0.99993928974862	0.958
18	56376609	G	A	18	58709377	y	y	splicing	MALT1(NM_006785:exon5:c.650-1G>A;NM_173844:exon5:c.650-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.650-1G>A;ENST00000345724:exon5:c.650-1G>A)	.	.	0.999949778486911	0.92
18	56376609	G	C	18	58709377	y	y	splicing	MALT1(NM_006785:exon5:c.650-1G>C;NM_173844:exon5:c.650-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.650-1G>C;ENST00000345724:exon5:c.650-1G>C)	.	.	0.99995124505692	0.868
18	56376609	G	T	18	58709377	y	y	splicing	MALT1(NM_006785:exon5:c.650-1G>T;NM_173844:exon5:c.650-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.650-1G>T;ENST00000345724:exon5:c.650-1G>T)	.	.	0.999949778486911	0.922
18	56376610	G	A	18	58709378	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.G650A:p.R217K;MALT1:NM_173844:exon5:c.G650A:p.R217K;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.G650A:p.R217K;ENSG00000172175:ENST00000345724:exon5:c.G650A:p.R217K;	0.00536096343986017	0.29
18	56376610	G	C	18	58709378	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.G650C:p.R217T;MALT1:NM_173844:exon5:c.G650C:p.R217T;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.G650C:p.R217T;ENSG00000172175:ENST00000345724:exon5:c.G650C:p.R217T;	0.0120261401526245	0.446
18	56376610	G	T	18	58709378	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.G650T:p.R217I;MALT1:NM_173844:exon5:c.G650T:p.R217I;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.G650T:p.R217I;ENSG00000172175:ENST00000345724:exon5:c.G650T:p.R217I;	0.894109277102508	0.48
18	56376611	A	C	18	58709379	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.A651C:p.R217S;MALT1:NM_173844:exon5:c.A651C:p.R217S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.A651C:p.R217S;ENSG00000172175:ENST00000345724:exon5:c.A651C:p.R217S;	2.03350626684501E-5	0.022
18	56376611	A	G	18	58709379	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon5:c.A651G:p.R217R;MALT1:NM_173844:exon5:c.A651G:p.R217R;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.A651G:p.R217R;ENSG00000172175:ENST00000345724:exon5:c.A651G:p.R217R;	5.36186710634937E-5	0.008
18	56376611	A	T	18	58709379	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.A651T:p.R217S;MALT1:NM_173844:exon5:c.A651T:p.R217S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.A651T:p.R217S;ENSG00000172175:ENST00000345724:exon5:c.A651T:p.R217S;	1.6682765780356E-5	0.022
18	56376786	A	C	18	58709554	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.A826C:p.M276L;MALT1:NM_173844:exon5:c.A826C:p.M276L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.A826C:p.M276L;ENSG00000172175:ENST00000345724:exon5:c.A826C:p.M276L;	8.41131615398217E-5	0.122
18	56376786	A	G	18	58709554	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.A826G:p.M276V;MALT1:NM_173844:exon5:c.A826G:p.M276V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.A826G:p.M276V;ENSG00000172175:ENST00000345724:exon5:c.A826G:p.M276V;	0.00749961982814397	0.124
18	56376786	A	T	18	58709554	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.A826T:p.M276L;MALT1:NM_173844:exon5:c.A826T:p.M276L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.A826T:p.M276L;ENSG00000172175:ENST00000345724:exon5:c.A826T:p.M276L;	0.0104391613255142	0.332
18	56376787	T	A	18	58709555	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.T827A:p.M276K;MALT1:NM_173844:exon5:c.T827A:p.M276K;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.T827A:p.M276K;ENSG00000172175:ENST00000345724:exon5:c.T827A:p.M276K;	0.00124824434413172	0.226
18	56376787	T	C	18	58709555	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.T827C:p.M276T;MALT1:NM_173844:exon5:c.T827C:p.M276T;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.T827C:p.M276T;ENSG00000172175:ENST00000345724:exon5:c.T827C:p.M276T;	0.00240658837113026	0.042
18	56376787	T	G	18	58709555	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.T827G:p.M276R;MALT1:NM_173844:exon5:c.T827G:p.M276R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.T827G:p.M276R;ENSG00000172175:ENST00000345724:exon5:c.T827G:p.M276R;	0.0108659118011951	0.22
18	56376788	G	A	18	58709556	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.G828A:p.M276I;MALT1:NM_173844:exon5:c.G828A:p.M276I;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.G828A:p.M276I;ENSG00000172175:ENST00000345724:exon5:c.G828A:p.M276I;	0.999985364533416	0.97
18	56376788	G	C	18	58709556	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.G828C:p.M276I;MALT1:NM_173844:exon5:c.G828C:p.M276I;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.G828C:p.M276I;ENSG00000172175:ENST00000345724:exon5:c.G828C:p.M276I;	0.999985303230404	0.986
18	56376788	G	T	18	58709556	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon5:c.G828T:p.M276I;MALT1:NM_173844:exon5:c.G828T:p.M276I;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon5:c.G828T:p.M276I;ENSG00000172175:ENST00000345724:exon5:c.G828T:p.M276I;	0.999975353285561	0.982
18	56376789	G	A	18	58709557	y	y	splicing	MALT1(NM_006785:exon5:c.828+1G>A;NM_173844:exon5:c.828+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.828+1G>A;ENST00000345724:exon5:c.828+1G>A)	.	.	0.999988630721284	0.94
18	56376789	G	C	18	58709557	y	y	splicing	MALT1(NM_006785:exon5:c.828+1G>C;NM_173844:exon5:c.828+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.828+1G>C;ENST00000345724:exon5:c.828+1G>C)	.	.	0.999988630721284	0.94
18	56376789	G	T	18	58709557	y	y	splicing	MALT1(NM_006785:exon5:c.828+1G>T;NM_173844:exon5:c.828+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.828+1G>T;ENST00000345724:exon5:c.828+1G>T)	.	.	0.999988630721284	0.94
18	56376790	T	A	18	58709558	y	y	splicing	MALT1(NM_006785:exon5:c.828+2T>A;NM_173844:exon5:c.828+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.828+2T>A;ENST00000345724:exon5:c.828+2T>A)	.	.	0.999990764389106	0.94
18	56376790	T	C	18	58709558	y	y	splicing	MALT1(NM_006785:exon5:c.828+2T>C;NM_173844:exon5:c.828+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.828+2T>C;ENST00000345724:exon5:c.828+2T>C)	.	.	0.999933373721707	0.9
18	56376790	T	G	18	58709558	y	y	splicing	MALT1(NM_006785:exon5:c.828+2T>G;NM_173844:exon5:c.828+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon5:c.828+2T>G;ENST00000345724:exon5:c.828+2T>G)	.	.	0.999990764389106	0.94
18	56376791	A	C	18	58709559	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999884518839263	0.964
18	56376791	A	G	18	58709559	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.997144972916113	0.976
18	56376791	A	T	18	58709559	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999707526396455	0.992
18	56376792	G	A	18	58709560	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.85812098592655E-4	0.086
18	56376792	G	C	18	58709560	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.20838946473702E-4	0.22
18	56376792	G	T	18	58709560	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.55630894594897E-4	0.09
18	56376793	G	A	18	58709561	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999973448841757	1.0
18	56376793	G	C	18	58709561	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99998265220315	1.0
18	56376793	G	T	18	58709561	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999973406803442	0.978
18	56376794	A	C	18	58709562	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.29877335377195E-4	0.104
18	56376794	A	G	18	58709562	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.96087427153008E-4	0.024
18	56376794	A	T	18	58709562	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.45288364391477E-4	0.022
18	56376795	A	C	18	58709563	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00330617073909967	0.088
18	56376795	A	G	18	58709563	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00387624266141202	0.076
18	56376795	A	T	18	58709563	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.54414487945411E-4	0.078
18	56376796	G	A	18	58709564	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.03383849044485E-4	0.006
18	56376796	G	C	18	58709564	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.98316668118837E-4	0.014
18	56376796	G	T	18	58709564	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.98316668118837E-4	0.012
18	56377196	A	C	18	58709964	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.58762705537829E-5	0.006
18	56377196	A	G	18	58709964	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999221656522841	0.988
18	56377196	A	T	18	58709964	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.32472235386404E-5	0.028
18	56377197	T	A	18	58709965	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.863858739531089	0.67
18	56377197	T	C	18	58709965	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0809169615747914	0.262
18	56377197	T	G	18	58709965	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999957496350453	0.976
18	56377198	A	C	18	58709966	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.33684777350849E-5	0.0
18	56377198	A	G	18	58709966	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.1211223766537E-5	0.002
18	56377198	A	T	18	58709966	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.44248969813696E-5	0.0
18	56377199	T	A	18	58709967	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0379425243346166	0.352
18	56377199	T	C	18	58709967	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.33637443600534E-4	0.11
18	56377199	T	G	18	58709967	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99998060155619	0.958
18	56377200	T	A	18	58709968	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999982982787268	0.98
18	56377200	T	C	18	58709968	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.71968149852007E-5	0.012
18	56377200	T	G	18	58709968	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00699059358581986	0.262
18	56377201	G	A	18	58709969	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.37583239112967E-4	0.03
18	56377201	G	C	18	58709969	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.37047920751042E-4	0.02
18	56377201	G	T	18	58709969	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.57199394961078E-4	0.04
18	56377202	A	C	18	58709970	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.06481237244302E-5	0.0
18	56377202	A	G	18	58709970	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.23421370042292E-5	0.0
18	56377202	A	T	18	58709970	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.78778313796105E-5	0.002
18	56377203	T	A	18	58709971	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.522195537768857	0.578
18	56377203	T	C	18	58709971	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00110139776839131	0.076
18	56377203	T	G	18	58709971	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999970024009958	0.934
18	56377204	A	C	18	58709972	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.37120774529448E-5	0.056
18	56377204	A	G	18	58709972	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00130560553098337	0.07
18	56377204	A	T	18	58709972	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.87960453986723E-4	0.01
18	56377205	T	A	18	58709973	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0119535740996363	0.258
18	56377205	T	C	18	58709973	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.53976228682967E-4	0.074
18	56377205	T	G	18	58709973	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.764186939722729	0.576
18	56377206	A	C	18	58709974	y	y	splicing	MALT1(NM_006785:exon6:c.829-2A>C;NM_173844:exon6:c.829-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.829-2A>C;ENST00000345724:exon6:c.829-2A>C)	.	.	0.999960616901561	0.93
18	56377206	A	G	18	58709974	y	y	splicing	MALT1(NM_006785:exon6:c.829-2A>G;NM_173844:exon6:c.829-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.829-2A>G;ENST00000345724:exon6:c.829-2A>G)	.	.	0.999960616901561	0.93
18	56377206	A	T	18	58709974	y	y	splicing	MALT1(NM_006785:exon6:c.829-2A>T;NM_173844:exon6:c.829-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.829-2A>T;ENST00000345724:exon6:c.829-2A>T)	.	.	0.999960616901561	0.926
18	56377207	G	A	18	58709975	y	y	splicing	MALT1(NM_006785:exon6:c.829-1G>A;NM_173844:exon6:c.829-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.829-1G>A;ENST00000345724:exon6:c.829-1G>A)	.	.	0.999976254090479	0.908
18	56377207	G	C	18	58709975	y	y	splicing	MALT1(NM_006785:exon6:c.829-1G>C;NM_173844:exon6:c.829-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.829-1G>C;ENST00000345724:exon6:c.829-1G>C)	.	.	0.999976254090479	0.904
18	56377207	G	T	18	58709975	y	y	splicing	MALT1(NM_006785:exon6:c.829-1G>T;NM_173844:exon6:c.829-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.829-1G>T;ENST00000345724:exon6:c.829-1G>T)	.	.	0.999976254090479	0.91
18	56377208	G	A	18	58709976	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.G829A:p.V277M;MALT1:NM_173844:exon6:c.G829A:p.V277M;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.G829A:p.V277M;ENSG00000172175:ENST00000345724:exon6:c.G829A:p.V277M;	0.999719922565109	0.954
18	56377208	G	C	18	58709976	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.G829C:p.V277L;MALT1:NM_173844:exon6:c.G829C:p.V277L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.G829C:p.V277L;ENSG00000172175:ENST00000345724:exon6:c.G829C:p.V277L;	0.997341667113433	0.936
18	56377208	G	T	18	58709976	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.G829T:p.V277L;MALT1:NM_173844:exon6:c.G829T:p.V277L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.G829T:p.V277L;ENSG00000172175:ENST00000345724:exon6:c.G829T:p.V277L;	0.999267809591827	0.97
18	56377209	T	A	18	58709977	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.T830A:p.V277E;MALT1:NM_173844:exon6:c.T830A:p.V277E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.T830A:p.V277E;ENSG00000172175:ENST00000345724:exon6:c.T830A:p.V277E;	0.628551665416565	0.37
18	56377209	T	C	18	58709977	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.T830C:p.V277A;MALT1:NM_173844:exon6:c.T830C:p.V277A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.T830C:p.V277A;ENSG00000172175:ENST00000345724:exon6:c.T830C:p.V277A;	0.502668989332373	0.36
18	56377209	T	G	18	58709977	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.T830G:p.V277G;MALT1:NM_173844:exon6:c.T830G:p.V277G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.T830G:p.V277G;ENSG00000172175:ENST00000345724:exon6:c.T830G:p.V277G;	0.648873623557902	0.36
18	56377302	T	A	18	58710070	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.T923A:p.I308K;MALT1:NM_173844:exon6:c.T923A:p.I308K;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.T923A:p.I308K;ENSG00000172175:ENST00000345724:exon6:c.T923A:p.I308K;	0.301366688039253	0.506
18	56377302	T	C	18	58710070	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.T923C:p.I308T;MALT1:NM_173844:exon6:c.T923C:p.I308T;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.T923C:p.I308T;ENSG00000172175:ENST00000345724:exon6:c.T923C:p.I308T;	0.023907276613891	0.174
18	56377302	T	G	18	58710070	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.T923G:p.I308R;MALT1:NM_173844:exon6:c.T923G:p.I308R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.T923G:p.I308R;ENSG00000172175:ENST00000345724:exon6:c.T923G:p.I308R;	0.198208511255615	0.464
18	56377303	A	C	18	58710071	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon6:c.A924C:p.I308I;MALT1:NM_173844:exon6:c.A924C:p.I308I;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.A924C:p.I308I;ENSG00000172175:ENST00000345724:exon6:c.A924C:p.I308I;	0.490282495137166	0.604
18	56377303	A	G	18	58710071	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.A924G:p.I308M;MALT1:NM_173844:exon6:c.A924G:p.I308M;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.A924G:p.I308M;ENSG00000172175:ENST00000345724:exon6:c.A924G:p.I308M;	0.432201179202581	0.438
18	56377303	A	T	18	58710071	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon6:c.A924T:p.I308I;MALT1:NM_173844:exon6:c.A924T:p.I308I;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.A924T:p.I308I;ENSG00000172175:ENST00000345724:exon6:c.A924T:p.I308I;	0.431358078055807	0.554
18	56377304	G	A	18	58710072	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.G925A:p.G309R;MALT1:NM_173844:exon6:c.G925A:p.D309N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.G925A:p.G309R;ENSG00000172175:ENST00000345724:exon6:c.G925A:p.D309N;	0.99964196063533	0.972
18	56377304	G	C	18	58710072	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon6:c.G925C:p.G309R;MALT1:NM_173844:exon6:c.G925C:p.D309H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon6:c.G925C:p.G309R;ENSG00000172175:ENST00000345724:exon6:c.G925C:p.D309H;	0.999700441017357	0.94
18	56377304	G	T	18	58710072	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon6:c.G925T:p.G309X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon6:c.G925T:p.G309X;	0.999975703582338	0.972
18	56377305	G	A	18	58710073	y	y	splicing	MALT1(NM_006785:exon6:c.925+1G>A;NM_173844:exon6:c.925+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.925+1G>A;ENST00000345724:exon6:c.925+1G>A)	.	.	0.999988247793601	0.922
18	56377305	G	C	18	58710073	y	y	splicing	MALT1(NM_006785:exon6:c.925+1G>C;NM_173844:exon6:c.925+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.925+1G>C;ENST00000345724:exon6:c.925+1G>C)	.	.	0.999988247793601	0.922
18	56377305	G	T	18	58710073	y	y	splicing	MALT1(NM_006785:exon6:c.925+1G>T;NM_173844:exon6:c.925+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.925+1G>T;ENST00000345724:exon6:c.925+1G>T)	.	.	0.999988247793601	0.922
18	56377306	T	A	18	58710074	y	y	splicing	MALT1(NM_006785:exon6:c.925+2T>A;NM_173844:exon6:c.925+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.925+2T>A;ENST00000345724:exon6:c.925+2T>A)	.	.	0.999992446697775	0.926
18	56377306	T	C	18	58710074	y	y	splicing	MALT1(NM_006785:exon6:c.925+2T>C;NM_173844:exon6:c.925+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.925+2T>C;ENST00000345724:exon6:c.925+2T>C)	.	.	0.993445866048487	0.63
18	56377306	T	G	18	58710074	y	y	splicing	MALT1(NM_006785:exon6:c.925+2T>G;NM_173844:exon6:c.925+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon6:c.925+2T>G;ENST00000345724:exon6:c.925+2T>G)	.	.	0.999986472513537	0.928
18	56377307	A	C	18	58710075	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.988036909460069	0.682
18	56377307	A	G	18	58710075	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00588618508739085	0.142
18	56377307	A	T	18	58710075	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.997666628195385	0.72
18	56377308	A	C	18	58710076	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.876108246134975	0.598
18	56377308	A	G	18	58710076	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.775695881605476	0.542
18	56377308	A	T	18	58710076	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.94302833232198	0.646
18	56377309	G	A	18	58710077	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.989888473519033	0.876
18	56377309	G	C	18	58710077	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.973633529200976	0.844
18	56377309	G	T	18	58710077	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.989225589925141	0.71
18	56377310	A	C	18	58710078	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.19354814728864E-5	0.01
18	56377310	A	G	18	58710078	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.98664471577337E-6	0.016
18	56377310	A	T	18	58710078	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.55955572115086E-5	0.002
18	56377311	A	C	18	58710079	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.57123356397867E-5	0.008
18	56377311	A	G	18	58710079	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.7439960302218E-5	0.008
18	56377311	A	T	18	58710079	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.44102318722622E-4	0.01
18	56377312	G	A	18	58710080	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.00577976857613E-5	0.002
18	56377312	G	C	18	58710080	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.00577976857613E-5	0.002
18	56377312	G	T	18	58710080	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.00577976857613E-5	0.002
18	56378141	T	A	18	58710909	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.922599631603936	0.676
18	56378141	T	C	18	58710909	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.74448784006706E-4	0.102
18	56378141	T	G	18	58710909	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.074010795544397	0.462
18	56378142	T	A	18	58710910	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.984576293026781	0.844
18	56378142	T	C	18	58710910	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.17611110602634	0.414
18	56378142	T	G	18	58710910	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.961055735882715	0.792
18	56378143	C	A	18	58710911	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.399770781249162	0.388
18	56378143	C	G	18	58710911	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.393466944311982	0.396
18	56378143	C	T	18	58710911	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.262378155647395	0.622
18	56378144	T	A	18	58710912	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999902688212337	0.92
18	56378144	T	C	18	58710912	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.324565441367452	0.398
18	56378144	T	G	18	58710912	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999053506073405	0.754
18	56378145	G	A	18	58710913	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00169317631937136	0.186
18	56378145	G	C	18	58710913	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00154560113235569	0.134
18	56378145	G	T	18	58710913	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00133821272040314	0.132
18	56378146	A	C	18	58710914	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.19094379216612E-4	0.072
18	56378146	A	G	18	58710914	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.2844618183469E-5	0.018
18	56378146	A	T	18	58710914	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.08482235173108E-4	0.052
18	56378147	A	C	18	58710915	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.15993468496122E-4	0.038
18	56378147	A	G	18	58710915	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999846975709434	0.96
18	56378147	A	T	18	58710915	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.72578795543556E-4	0.03
18	56378148	A	C	18	58710916	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00265133589239587	0.086
18	56378148	A	G	18	58710916	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999538638731355	0.902
18	56378148	A	T	18	58710916	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0287130401506154	0.214
18	56378149	C	A	18	58710917	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.67050788686827E-4	0.206
18	56378149	C	G	18	58710917	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999597830873316	0.896
18	56378149	C	T	18	58710917	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.67050788686827E-4	0.178
18	56378150	A	C	18	58710918	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.213624636697E-4	0.054
18	56378150	A	G	18	58710918	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.136772051724851	0.258
18	56378150	A	T	18	58710918	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00304147175406992	0.088
18	56378151	A	C	18	58710919	y	y	splicing	MALT1(NM_006785:exon7:c.926-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.926-2A>C)	.	.	0.999933834912627	0.89
18	56378151	A	G	18	58710919	y	y	splicing	MALT1(NM_006785:exon7:c.926-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.926-2A>G)	.	.	0.999933834912627	0.89
18	56378151	A	T	18	58710919	y	y	splicing	MALT1(NM_006785:exon7:c.926-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.926-2A>T)	.	.	0.999933834912627	0.892
18	56378152	G	A	18	58710920	y	y	splicing	MALT1(NM_006785:exon7:c.926-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.926-1G>A)	.	.	0.999983347500877	0.884
18	56378152	G	C	18	58710920	y	y	splicing	MALT1(NM_006785:exon7:c.926-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.926-1G>C)	.	.	0.999983347500877	0.884
18	56378152	G	T	18	58710920	y	y	splicing	MALT1(NM_006785:exon7:c.926-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.926-1G>T)	.	.	0.999983347500877	0.884
18	56378153	G	A	18	58710921	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.G926A:p.G309E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.G926A:p.G309E;	0.999882764375673	0.79
18	56378153	G	C	18	58710921	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.G926C:p.G309A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.G926C:p.G309A;	0.997679657881486	0.702
18	56378153	G	T	18	58710921	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.G926T:p.G309V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.G926T:p.G309V;	0.999929510875557	0.906
18	56378154	A	C	18	58710922	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon7:c.A927C:p.G309G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A927C:p.G309G;	0.123768364106143	0.42
18	56378154	A	G	18	58710922	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon7:c.A927G:p.G309G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A927G:p.G309G;	0.212512321350692	0.416
18	56378154	A	T	18	58710922	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon7:c.A927T:p.G309G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A927T:p.G309G;	0.119386316604101	0.508
18	56378183	A	C	18	58710951	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.A956C:p.E319A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A956C:p.E319A;	0.00371857817545869	0.024
18	56378183	A	G	18	58710951	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.A956G:p.E319G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A956G:p.E319G;	0.892328087046271	0.52
18	56378183	A	T	18	58710951	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.A956T:p.E319V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A956T:p.E319V;	0.998388249902107	0.874
18	56378184	A	C	18	58710952	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.A957C:p.E319D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A957C:p.E319D;	0.999130233215943	0.988
18	56378184	A	G	18	58710952	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon7:c.A957G:p.E319E;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A957G:p.E319E;	0.999842748316591	0.994
18	56378184	A	T	18	58710952	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.A957T:p.E319D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.A957T:p.E319D;	0.999873058424019	0.996
18	56378185	G	A	18	58710953	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.G958A:p.D320N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.G958A:p.D320N;	0.999993336370744	0.994
18	56378185	G	C	18	58710953	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.G958C:p.D320H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.G958C:p.D320H;	0.999996965714003	1.0
18	56378185	G	T	18	58710953	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon7:c.G958T:p.D320Y;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon7:c.G958T:p.D320Y;	0.999991630483647	0.998
18	56378186	G	A	18	58710954	y	y	splicing	MALT1(NM_006785:exon7:c.958+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.958+1G>A)	.	.	0.999983677848485	0.944
18	56378186	G	C	18	58710954	y	y	splicing	MALT1(NM_006785:exon7:c.958+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.958+1G>C)	.	.	0.999983677848485	0.944
18	56378186	G	T	18	58710954	y	y	splicing	MALT1(NM_006785:exon7:c.958+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.958+1G>T)	.	.	0.999983677848485	0.944
18	56378187	T	A	18	58710955	y	y	splicing	MALT1(NM_006785:exon7:c.958+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.958+2T>A)	.	.	0.999986741007567	0.944
18	56378187	T	C	18	58710955	y	y	splicing	MALT1(NM_006785:exon7:c.958+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.958+2T>C)	.	.	0.991423950834714	0.642
18	56378187	T	G	18	58710955	y	y	splicing	MALT1(NM_006785:exon7:c.958+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon7:c.958+2T>G)	.	.	0.999986741007567	0.944
18	56378188	A	C	18	58710956	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999916780055511	0.966
18	56378188	A	G	18	58710956	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999631042236802	0.96
18	56378188	A	T	18	58710956	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999886363851327	0.982
18	56378189	G	A	18	58710957	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00173461250179244	0.104
18	56378189	G	C	18	58710957	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0609050631835681	0.376
18	56378189	G	T	18	58710957	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0302063464607524	0.28
18	56378190	T	A	18	58710958	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.92029725134223E-4	0.022
18	56378190	T	C	18	58710958	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.62325964155928E-5	0.002
18	56378190	T	G	18	58710958	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.81077166190209E-4	0.052
18	56378191	G	A	18	58710959	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.20703547387791E-4	0.122
18	56378191	G	C	18	58710959	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.29412707817588E-4	0.086
18	56378191	G	T	18	58710959	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.76414329287516E-5	0.048
18	56378192	T	A	18	58710960	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00227614671048803	0.138
18	56378192	T	C	18	58710960	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.25594579066143E-4	0.016
18	56378192	T	G	18	58710960	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.29416528583269E-4	0.006
18	56378193	A	C	18	58710961	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.08460587701828E-4	0.006
18	56378193	A	G	18	58710961	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.74135515939451E-5	0.002
18	56378193	A	T	18	58710961	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.29900886250031E-5	0.002
18	56381303	A	C	18	58714071	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.32169388530355E-5	0.0
18	56381303	A	G	18	58714071	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.3113352150318E-5	0.016
18	56381303	A	T	18	58714071	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.66039813046606E-5	0.002
18	56381304	C	A	18	58714072	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.01295162855969E-4	0.032
18	56381304	C	G	18	58714072	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.876832277352275	0.546
18	56381304	C	T	18	58714072	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.56227402875007E-5	0.002
18	56381305	T	A	18	58714073	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.170504319696991	0.462
18	56381305	T	C	18	58714073	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.61986995702754E-4	0.026
18	56381305	T	G	18	58714073	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.107037539098419	0.448
18	56381306	T	A	18	58714074	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00255665571382143	0.158
18	56381306	T	C	18	58714074	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.25458596836364E-4	0.002
18	56381306	T	G	18	58714074	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.10485602708016E-4	0.112
18	56381307	T	A	18	58714075	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.947236651536436	0.57
18	56381307	T	C	18	58714075	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.58532243552505E-5	0.008
18	56381307	T	G	18	58714075	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.88152036179788E-4	0.086
18	56381308	G	A	18	58714076	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.20278423687697E-5	0.002
18	56381308	G	C	18	58714076	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.17780391893427E-6	0.016
18	56381308	G	T	18	58714076	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.4817404343222E-6	0.0
18	56381309	T	A	18	58714077	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.496685653197579	0.484
18	56381309	T	C	18	58714077	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00153670597325975	0.04
18	56381309	T	G	18	58714077	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.659344901355941	0.522
18	56381310	T	A	18	58714078	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.970016368082955	0.664
18	56381310	T	C	18	58714078	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0215907521281966	0.132
18	56381310	T	G	18	58714078	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.949567734048247	0.668
18	56381311	T	A	18	58714079	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00470692318306891	0.062
18	56381311	T	C	18	58714079	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00112774112945513	0.012
18	56381311	T	G	18	58714079	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00830914607439695	0.038
18	56381312	T	A	18	58714080	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00925325674426602	0.242
18	56381312	T	C	18	58714080	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.21861264279534E-5	0.008
18	56381312	T	G	18	58714080	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.951932060242234	0.626
18	56381313	A	C	18	58714081	y	y	splicing	MALT1(NM_006785:exon8:c.959-2A>C;NM_173844:exon7:c.926-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.959-2A>C;ENST00000345724:exon7:c.926-2A>C)	.	.	0.999991582404039	0.924
18	56381313	A	G	18	58714081	y	y	splicing	MALT1(NM_006785:exon8:c.959-2A>G;NM_173844:exon7:c.926-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.959-2A>G;ENST00000345724:exon7:c.926-2A>G)	.	.	0.999991582404039	0.924
18	56381313	A	T	18	58714081	y	y	splicing	MALT1(NM_006785:exon8:c.959-2A>T;NM_173844:exon7:c.926-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.959-2A>T;ENST00000345724:exon7:c.926-2A>T)	.	.	0.999991582404039	0.924
18	56381314	G	A	18	58714082	y	y	splicing	MALT1(NM_006785:exon8:c.959-1G>A;NM_173844:exon7:c.926-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.959-1G>A;ENST00000345724:exon7:c.926-1G>A)	.	.	0.99994568797423	0.93
18	56381314	G	C	18	58714082	y	y	splicing	MALT1(NM_006785:exon8:c.959-1G>C;NM_173844:exon7:c.926-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.959-1G>C;ENST00000345724:exon7:c.926-1G>C)	.	.	0.99994568797423	0.94
18	56381314	G	T	18	58714082	y	y	splicing	MALT1(NM_006785:exon8:c.959-1G>T;NM_173844:exon7:c.926-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.959-1G>T;ENST00000345724:exon7:c.926-1G>T)	.	.	0.99994568797423	0.934
18	56381315	A	C	18	58714083	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.A959C:p.D320A;MALT1:NM_173844:exon7:c.A926C:p.D309A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.A959C:p.D320A;ENSG00000172175:ENST00000345724:exon7:c.A926C:p.D309A;	0.00497282976801821	0.068
18	56381315	A	G	18	58714083	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.A959G:p.D320G;MALT1:NM_173844:exon7:c.A926G:p.D309G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.A959G:p.D320G;ENSG00000172175:ENST00000345724:exon7:c.A926G:p.D309G;	0.00153652801287783	0.024
18	56381315	A	T	18	58714083	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.A959T:p.D320V;MALT1:NM_173844:exon7:c.A926T:p.D309V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.A959T:p.D320V;ENSG00000172175:ENST00000345724:exon7:c.A926T:p.D309V;	0.00895966605030769	0.104
18	56381316	T	A	18	58714084	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.T960A:p.D320E;MALT1:NM_173844:exon7:c.T927A:p.D309E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.T960A:p.D320E;ENSG00000172175:ENST00000345724:exon7:c.T927A:p.D309E;	0.00114073684546559	0.128
18	56381316	T	C	18	58714084	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon8:c.T960C:p.D320D;MALT1:NM_173844:exon7:c.T927C:p.D309D;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.T960C:p.D320D;ENSG00000172175:ENST00000345724:exon7:c.T927C:p.D309D;	0.00137430017493909	0.044
18	56381316	T	G	18	58714084	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.T960G:p.D320E;MALT1:NM_173844:exon7:c.T927G:p.D309E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.T960G:p.D320E;ENSG00000172175:ENST00000345724:exon7:c.T927G:p.D309E;	6.95397821670928E-4	0.034
18	56381339	C	A	18	58714107	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.C983A:p.P328H;MALT1:NM_173844:exon7:c.C950A:p.P317H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.C983A:p.P328H;ENSG00000172175:ENST00000345724:exon7:c.C950A:p.P317H;	0.720481749816169	0.68
18	56381339	C	G	18	58714107	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.C983G:p.P328R;MALT1:NM_173844:exon7:c.C950G:p.P317R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.C983G:p.P328R;ENSG00000172175:ENST00000345724:exon7:c.C950G:p.P317R;	0.0272371730266005	0.152
18	56381339	C	T	18	58714107	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.C983T:p.P328L;MALT1:NM_173844:exon7:c.C950T:p.P317L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.C983T:p.P328L;ENSG00000172175:ENST00000345724:exon7:c.C950T:p.P317L;	0.932365257590819	0.5
18	56381340	T	A	18	58714108	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon8:c.T984A:p.P328P;MALT1:NM_173844:exon7:c.T951A:p.P317P;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.T984A:p.P328P;ENSG00000172175:ENST00000345724:exon7:c.T951A:p.P317P;	1.52938051379266E-4	0.136
18	56381340	T	C	18	58714108	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon8:c.T984C:p.P328P;MALT1:NM_173844:exon7:c.T951C:p.P317P;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.T984C:p.P328P;ENSG00000172175:ENST00000345724:exon7:c.T951C:p.P317P;	4.99323217035559E-4	0.004
18	56381340	T	G	18	58714108	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon8:c.T984G:p.P328P;MALT1:NM_173844:exon7:c.T951G:p.P317P;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.T984G:p.P328P;ENSG00000172175:ENST00000345724:exon7:c.T951G:p.P317P;	0.00271934361357134	0.022
18	56381341	G	A	18	58714109	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.G985A:p.D329N;MALT1:NM_173844:exon7:c.G952A:p.D318N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.G985A:p.D329N;ENSG00000172175:ENST00000345724:exon7:c.G952A:p.D318N;	0.998523662250228	0.978
18	56381341	G	C	18	58714109	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.G985C:p.D329H;MALT1:NM_173844:exon7:c.G952C:p.D318H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.G985C:p.D329H;ENSG00000172175:ENST00000345724:exon7:c.G952C:p.D318H;	0.999933840521694	0.974
18	56381341	G	T	18	58714109	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon8:c.G985T:p.D329Y;MALT1:NM_173844:exon7:c.G952T:p.D318Y;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon8:c.G985T:p.D329Y;ENSG00000172175:ENST00000345724:exon7:c.G952T:p.D318Y;	0.999277644360375	0.946
18	56381342	G	A	18	58714110	y	y	splicing	MALT1(NM_006785:exon8:c.985+1G>A;NM_173844:exon7:c.952+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.985+1G>A;ENST00000345724:exon7:c.952+1G>A)	.	.	0.999988247793601	0.922
18	56381342	G	C	18	58714110	y	y	splicing	MALT1(NM_006785:exon8:c.985+1G>C;NM_173844:exon7:c.952+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.985+1G>C;ENST00000345724:exon7:c.952+1G>C)	.	.	0.999988247793601	0.926
18	56381342	G	T	18	58714110	y	y	splicing	MALT1(NM_006785:exon8:c.985+1G>T;NM_173844:exon7:c.952+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.985+1G>T;ENST00000345724:exon7:c.952+1G>T)	.	.	0.999988247793601	0.926
18	56381343	T	A	18	58714111	y	y	splicing	MALT1(NM_006785:exon8:c.985+2T>A;NM_173844:exon7:c.952+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.985+2T>A;ENST00000345724:exon7:c.952+2T>A)	.	.	0.999993519952936	0.926
18	56381343	T	C	18	58714111	y	y	splicing	MALT1(NM_006785:exon8:c.985+2T>C;NM_173844:exon7:c.952+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.985+2T>C;ENST00000345724:exon7:c.952+2T>C)	.	.	0.999958563240378	0.864
18	56381343	T	G	18	58714111	y	y	splicing	MALT1(NM_006785:exon8:c.985+2T>G;NM_173844:exon7:c.952+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon8:c.985+2T>G;ENST00000345724:exon7:c.952+2T>G)	.	.	0.999993519952936	0.926
18	56381344	G	A	18	58714112	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.48746482039146E-4	0.002
18	56381344	G	C	18	58714112	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.667597380127237	0.492
18	56381344	G	T	18	58714112	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.240798810659626	0.444
18	56381345	A	C	18	58714113	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.941622438046329	0.608
18	56381345	A	G	18	58714113	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.991848942296637	0.69
18	56381345	A	T	18	58714113	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998214275067286	0.786
18	56381346	G	A	18	58714114	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999568738663647	0.976
18	56381346	G	C	18	58714114	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999912973763687	0.926
18	56381346	G	T	18	58714114	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999845300004429	0.94
18	56381347	T	A	18	58714115	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.614016927955627	0.512
18	56381347	T	C	18	58714115	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.783051603610865	0.484
18	56381347	T	G	18	58714115	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.232692921119309	0.322
18	56381348	A	C	18	58714116	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0021793227381688	0.022
18	56381348	A	G	18	58714116	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.30254723088786E-4	0.04
18	56381348	A	T	18	58714116	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.07481803777616E-4	0.014
18	56381349	A	C	18	58714117	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.81159136363845E-5	0.0
18	56381349	A	G	18	58714117	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.14468490257208E-5	0.0
18	56381349	A	T	18	58714117	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.81159136363845E-5	0.0
18	56383155	A	C	18	58715923	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.33484341481412E-5	0.0
18	56383155	A	G	18	58715923	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.09746704225767E-5	0.016
18	56383155	A	T	18	58715923	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.92764252954928E-5	0.0
18	56383156	T	A	18	58715924	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998339646640679	0.95
18	56383156	T	C	18	58715924	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.89869994341597	0.574
18	56383156	T	G	18	58715924	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999967974351357	0.976
18	56383157	C	A	18	58715925	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00155798111013175	0.086
18	56383157	C	G	18	58715925	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.54472316006568E-4	0.062
18	56383157	C	T	18	58715925	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.32153866202921E-4	0.002
18	56383158	T	A	18	58715926	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00605049659773608	0.24
18	56383158	T	C	18	58715926	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.58643332952656E-5	0.02
18	56383158	T	G	18	58715926	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00681683031236308	0.264
18	56383159	T	A	18	58715927	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.279374608831548	0.484
18	56383159	T	C	18	58715927	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00130952673532967	0.038
18	56383159	T	G	18	58715927	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.010583227485718	0.324
18	56383160	T	A	18	58715928	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998681758509743	0.992
18	56383160	T	C	18	58715928	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.07350852387029E-5	0.004
18	56383160	T	G	18	58715928	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.001632360128265	0.046
18	56383161	G	A	18	58715929	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.48205670891309E-5	0.006
18	56383161	G	C	18	58715929	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.39756492419685E-5	0.016
18	56383161	G	T	18	58715929	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.03272425293411E-5	0.002
18	56383162	T	A	18	58715930	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.385872101788384	0.564
18	56383162	T	C	18	58715930	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00167158741516913	0.086
18	56383162	T	G	18	58715930	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.789578410209349	0.6
18	56383163	A	C	18	58715931	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.87266657525781E-5	0.0
18	56383163	A	G	18	58715931	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.75178917897608E-5	0.0
18	56383163	A	T	18	58715931	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.05686620461505E-4	0.004
18	56383164	T	A	18	58715932	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0101495246863343	0.182
18	56383164	T	C	18	58715932	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.2847860902483E-5	0.004
18	56383164	T	G	18	58715932	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.926997310518989	0.686
18	56383165	A	C	18	58715933	y	y	splicing	MALT1(NM_006785:exon9:c.986-2A>C;NM_173844:exon8:c.953-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.986-2A>C;ENST00000345724:exon8:c.953-2A>C)	.	.	0.999978952611685	0.932
18	56383165	A	G	18	58715933	y	y	splicing	MALT1(NM_006785:exon9:c.986-2A>G;NM_173844:exon8:c.953-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.986-2A>G;ENST00000345724:exon8:c.953-2A>G)	.	.	0.999978952611685	0.932
18	56383165	A	T	18	58715933	y	y	splicing	MALT1(NM_006785:exon9:c.986-2A>T;NM_173844:exon8:c.953-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.986-2A>T;ENST00000345724:exon8:c.953-2A>T)	.	.	0.999988247793601	0.93
18	56383166	G	A	18	58715934	y	y	splicing	MALT1(NM_006785:exon9:c.986-1G>A;NM_173844:exon8:c.953-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.986-1G>A;ENST00000345724:exon8:c.953-1G>A)	.	.	0.999990361384395	0.938
18	56383166	G	C	18	58715934	y	y	splicing	MALT1(NM_006785:exon9:c.986-1G>C;NM_173844:exon8:c.953-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.986-1G>C;ENST00000345724:exon8:c.953-1G>C)	.	.	0.999982737877662	0.936
18	56383166	G	T	18	58715934	y	y	splicing	MALT1(NM_006785:exon9:c.986-1G>T;NM_173844:exon8:c.953-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.986-1G>T;ENST00000345724:exon8:c.953-1G>T)	.	.	0.999990361384395	0.938
18	56383167	A	C	18	58715935	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.A986C:p.D329A;MALT1:NM_173844:exon8:c.A953C:p.D318A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.A986C:p.D329A;ENSG00000172175:ENST00000345724:exon8:c.A953C:p.D318A;	2.14508738220625E-4	0.044
18	56383167	A	G	18	58715935	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.A986G:p.D329G;MALT1:NM_173844:exon8:c.A953G:p.D318G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.A986G:p.D329G;ENSG00000172175:ENST00000345724:exon8:c.A953G:p.D318G;	8.86046719708372E-5	0.026
18	56383167	A	T	18	58715935	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.A986T:p.D329V;MALT1:NM_173844:exon8:c.A953T:p.D318V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.A986T:p.D329V;ENSG00000172175:ENST00000345724:exon8:c.A953T:p.D318V;	6.1883544748931E-4	0.038
18	56383168	T	A	18	58715936	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.T987A:p.D329E;MALT1:NM_173844:exon8:c.T954A:p.D318E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.T987A:p.D329E;ENSG00000172175:ENST00000345724:exon8:c.T954A:p.D318E;	2.0766109849778E-4	0.022
18	56383168	T	C	18	58715936	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon9:c.T987C:p.D329D;MALT1:NM_173844:exon8:c.T954C:p.D318D;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.T987C:p.D329D;ENSG00000172175:ENST00000345724:exon8:c.T954C:p.D318D;	3.01358965528509E-4	0.044
18	56383168	T	G	18	58715936	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.T987G:p.D329E;MALT1:NM_173844:exon8:c.T954G:p.D318E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.T987G:p.D329E;ENSG00000172175:ENST00000345724:exon8:c.T954G:p.D318E;	6.24402645292999E-4	0.038
18	56383197	T	A	18	58715965	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon9:c.T1016A:p.L339X;MALT1:NM_173844:exon8:c.T983A:p.L328X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon9:c.T1016A:p.L339X;ENSG00000172175:ENST00000345724:exon8:c.T983A:p.L328X;	0.722901404606113	0.682
18	56383197	T	C	18	58715965	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.T1016C:p.L339S;MALT1:NM_173844:exon8:c.T983C:p.L328S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.T1016C:p.L339S;ENSG00000172175:ENST00000345724:exon8:c.T983C:p.L328S;	0.00123689435450732	0.008
18	56383197	T	G	18	58715965	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.T1016G:p.L339W;MALT1:NM_173844:exon8:c.T983G:p.L328W;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.T1016G:p.L339W;ENSG00000172175:ENST00000345724:exon8:c.T983G:p.L328W;	0.80575447003154	0.534
18	56383198	G	A	18	58715966	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon9:c.G1017A:p.L339L;MALT1:NM_173844:exon8:c.G984A:p.L328L;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.G1017A:p.L339L;ENSG00000172175:ENST00000345724:exon8:c.G984A:p.L328L;	2.34605068282565E-4	0.046
18	56383198	G	C	18	58715966	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.G1017C:p.L339F;MALT1:NM_173844:exon8:c.G984C:p.L328F;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.G1017C:p.L339F;ENSG00000172175:ENST00000345724:exon8:c.G984C:p.L328F;	6.09766939927252E-5	0.0
18	56383198	G	T	18	58715966	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.G1017T:p.L339F;MALT1:NM_173844:exon8:c.G984T:p.L328F;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.G1017T:p.L339F;ENSG00000172175:ENST00000345724:exon8:c.G984T:p.L328F;	1.21026070079203E-4	0.0
18	56383199	G	A	18	58715967	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.G1018A:p.A340T;MALT1:NM_173844:exon8:c.G985A:p.A329T;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.G1018A:p.A340T;ENSG00000172175:ENST00000345724:exon8:c.G985A:p.A329T;	0.999969624214314	0.964
18	56383199	G	C	18	58715967	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.G1018C:p.A340P;MALT1:NM_173844:exon8:c.G985C:p.A329P;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.G1018C:p.A340P;ENSG00000172175:ENST00000345724:exon8:c.G985C:p.A329P;	0.999969931313894	0.972
18	56383199	G	T	18	58715967	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon9:c.G1018T:p.A340S;MALT1:NM_173844:exon8:c.G985T:p.A329S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon9:c.G1018T:p.A340S;ENSG00000172175:ENST00000345724:exon8:c.G985T:p.A329S;	0.999989138210602	0.966
18	56383200	G	A	18	58715968	y	y	splicing	MALT1(NM_006785:exon9:c.1018+1G>A;NM_173844:exon8:c.985+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.1018+1G>A;ENST00000345724:exon8:c.985+1G>A)	.	.	0.999990361384395	0.938
18	56383200	G	C	18	58715968	y	y	splicing	MALT1(NM_006785:exon9:c.1018+1G>C;NM_173844:exon8:c.985+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.1018+1G>C;ENST00000345724:exon8:c.985+1G>C)	.	.	0.999990361384395	0.936
18	56383200	G	T	18	58715968	y	y	splicing	MALT1(NM_006785:exon9:c.1018+1G>T;NM_173844:exon8:c.985+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.1018+1G>T;ENST00000345724:exon8:c.985+1G>T)	.	.	0.999990361384395	0.938
18	56383201	T	A	18	58715969	y	y	splicing	MALT1(NM_006785:exon9:c.1018+2T>A;NM_173844:exon8:c.985+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.1018+2T>A;ENST00000345724:exon8:c.985+2T>A)	.	.	0.999988247793601	0.93
18	56383201	T	C	18	58715969	y	y	splicing	MALT1(NM_006785:exon9:c.1018+2T>C;NM_173844:exon8:c.985+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.1018+2T>C;ENST00000345724:exon8:c.985+2T>C)	.	.	0.999929727175276	0.858
18	56383201	T	G	18	58715969	y	y	splicing	MALT1(NM_006785:exon9:c.1018+2T>G;NM_173844:exon8:c.985+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon9:c.1018+2T>G;ENST00000345724:exon8:c.985+2T>G)	.	.	0.999988247793601	0.93
18	56383202	G	A	18	58715970	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.06608206973483E-5	0.0
18	56383202	G	C	18	58715970	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.971558161728614	0.638
18	56383202	G	T	18	58715970	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.92792376628307	0.502
18	56383203	A	C	18	58715971	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998046080371041	0.924
18	56383203	A	G	18	58715971	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998183006866634	0.956
18	56383203	A	T	18	58715971	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998992740375551	0.948
18	56383204	G	A	18	58715972	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99997472757787	0.994
18	56383204	G	C	18	58715972	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999953036089874	0.974
18	56383204	G	T	18	58715972	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99993668253273	0.936
18	56383205	T	A	18	58715973	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.93891811027092	0.804
18	56383205	T	C	18	58715973	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.569316456243464	0.562
18	56383205	T	G	18	58715973	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.759744133960754	0.628
18	56383206	A	C	18	58715974	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.78422694300027E-4	0.012
18	56383206	A	G	18	58715974	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.62338940781084E-5	0.0
18	56383206	A	T	18	58715974	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.51206781905536E-5	0.008
18	56383207	G	A	18	58715975	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.6412967361558E-4	0.054
18	56383207	G	C	18	58715975	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.82742017731173E-4	0.014
18	56383207	G	T	18	58715975	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.07090884388583E-4	0.014
18	56390268	T	A	18	58723036	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00431396794392571	0.132
18	56390268	T	C	18	58723036	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.43578614054707E-4	0.012
18	56390268	T	G	18	58723036	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00290826465322219	0.116
18	56390269	T	A	18	58723037	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0312077865766709	0.232
18	56390269	T	C	18	58723037	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00229951917367001	0.07
18	56390269	T	G	18	58723037	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00755525684113124	0.216
18	56390270	T	A	18	58723038	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0054210691976177	0.142
18	56390270	T	C	18	58723038	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00107239144948436	0.018
18	56390270	T	G	18	58723038	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00862745251509493	0.214
18	56390271	T	A	18	58723039	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00347248180805114	0.15
18	56390271	T	C	18	58723039	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.3763928243369E-4	0.048
18	56390271	T	G	18	58723039	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00300925250172941	0.156
18	56390272	T	A	18	58723040	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00276139727783249	0.118
18	56390272	T	C	18	58723040	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.68239472552821E-4	0.008
18	56390272	T	G	18	58723040	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00365398520421582	0.14
18	56390273	T	A	18	58723041	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00351384976095296	0.102
18	56390273	T	C	18	58723041	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.25927417653457E-5	0.004
18	56390273	T	G	18	58723041	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00191531372746738	0.042
18	56390274	T	A	18	58723042	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00170042032058767	0.082
18	56390274	T	C	18	58723042	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.57455491046874E-5	0.0
18	56390274	T	G	18	58723042	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00192695028696999	0.104
18	56390275	C	A	18	58723043	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.86551908570193E-4	0.052
18	56390275	C	G	18	58723043	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00202933124871429	0.14
18	56390275	C	T	18	58723043	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.64354929080002E-5	0.0
18	56390276	A	C	18	58723044	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.35211390107228E-4	0.062
18	56390276	A	G	18	58723044	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.53541250362421E-4	0.02
18	56390276	A	T	18	58723044	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.20223144039088E-4	0.038
18	56390277	A	C	18	58723045	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.85030601121568E-5	0.012
18	56390277	A	G	18	58723045	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0827789012053457	0.49
18	56390277	A	T	18	58723045	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.09615897851648E-5	0.002
18	56390278	A	C	18	58723046	y	y	splicing	MALT1(NM_006785:exon10:c.1019-2A>C;NM_173844:exon9:c.986-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1019-2A>C;ENST00000345724:exon9:c.986-2A>C)	.	.	0.999988247793601	0.926
18	56390278	A	G	18	58723046	y	y	splicing	MALT1(NM_006785:exon10:c.1019-2A>G;NM_173844:exon9:c.986-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1019-2A>G;ENST00000345724:exon9:c.986-2A>G)	.	.	0.999988247793601	0.926
18	56390278	A	T	18	58723046	y	y	splicing	MALT1(NM_006785:exon10:c.1019-2A>T;NM_173844:exon9:c.986-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1019-2A>T;ENST00000345724:exon9:c.986-2A>T)	.	.	0.999988247793601	0.926
18	56390279	G	A	18	58723047	y	y	splicing	MALT1(NM_006785:exon10:c.1019-1G>A;NM_173844:exon9:c.986-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1019-1G>A;ENST00000345724:exon9:c.986-1G>A)	.	.	0.999985532734767	0.934
18	56390279	G	C	18	58723047	y	y	splicing	MALT1(NM_006785:exon10:c.1019-1G>C;NM_173844:exon9:c.986-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1019-1G>C;ENST00000345724:exon9:c.986-1G>C)	.	.	0.999985532734767	0.934
18	56390279	G	T	18	58723047	y	y	splicing	MALT1(NM_006785:exon10:c.1019-1G>T;NM_173844:exon9:c.986-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1019-1G>T;ENST00000345724:exon9:c.986-1G>T)	.	.	0.999985532734767	0.934
18	56390280	C	A	18	58723048	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.C1019A:p.A340E;MALT1:NM_173844:exon9:c.C986A:p.A329E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.C1019A:p.A340E;ENSG00000172175:ENST00000345724:exon9:c.C986A:p.A329E;	0.95867726120584	0.792
18	56390280	C	G	18	58723048	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.C1019G:p.A340G;MALT1:NM_173844:exon9:c.C986G:p.A329G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.C1019G:p.A340G;ENSG00000172175:ENST00000345724:exon9:c.C986G:p.A329G;	0.943684171053751	0.754
18	56390280	C	T	18	58723048	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.C1019T:p.A340V;MALT1:NM_173844:exon9:c.C986T:p.A329V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.C1019T:p.A340V;ENSG00000172175:ENST00000345724:exon9:c.C986T:p.A329V;	0.994396595807109	0.924
18	56390281	G	A	18	58723049	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon10:c.G1020A:p.A340A;MALT1:NM_173844:exon9:c.G987A:p.A329A;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.G1020A:p.A340A;ENSG00000172175:ENST00000345724:exon9:c.G987A:p.A329A;	4.62851754010593E-4	0.012
18	56390281	G	C	18	58723049	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon10:c.G1020C:p.A340A;MALT1:NM_173844:exon9:c.G987C:p.A329A;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.G1020C:p.A340A;ENSG00000172175:ENST00000345724:exon9:c.G987C:p.A329A;	1.59063328920206E-4	0.01
18	56390281	G	T	18	58723049	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon10:c.G1020T:p.A340A;MALT1:NM_173844:exon9:c.G987T:p.A329A;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.G1020T:p.A340A;ENSG00000172175:ENST00000345724:exon9:c.G987T:p.A329A;	5.21240046313643E-5	0.008
18	56390481	A	C	18	58723249	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.A1220C:p.Y407S;MALT1:NM_173844:exon9:c.A1187C:p.Y396S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.A1220C:p.Y407S;ENSG00000172175:ENST00000345724:exon9:c.A1187C:p.Y396S;	0.652856573071822	0.688
18	56390481	A	G	18	58723249	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.A1220G:p.Y407C;MALT1:NM_173844:exon9:c.A1187G:p.Y396C;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.A1220G:p.Y407C;ENSG00000172175:ENST00000345724:exon9:c.A1187G:p.Y396C;	0.28594941913442	0.51
18	56390481	A	T	18	58723249	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.A1220T:p.Y407F;MALT1:NM_173844:exon9:c.A1187T:p.Y396F;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.A1220T:p.Y407F;ENSG00000172175:ENST00000345724:exon9:c.A1187T:p.Y396F;	0.927096516129316	0.604
18	56390482	T	A	18	58723250	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon10:c.T1221A:p.Y407X;MALT1:NM_173844:exon9:c.T1188A:p.Y396X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon10:c.T1221A:p.Y407X;ENSG00000172175:ENST00000345724:exon9:c.T1188A:p.Y396X;	5.03382708503072E-4	0.426
18	56390482	T	C	18	58723250	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon10:c.T1221C:p.Y407Y;MALT1:NM_173844:exon9:c.T1188C:p.Y396Y;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.T1221C:p.Y407Y;ENSG00000172175:ENST00000345724:exon9:c.T1188C:p.Y396Y;	1.85463616976862E-4	0.004
18	56390482	T	G	18	58723250	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon10:c.T1221G:p.Y407X;MALT1:NM_173844:exon9:c.T1188G:p.Y396X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon10:c.T1221G:p.Y407X;ENSG00000172175:ENST00000345724:exon9:c.T1188G:p.Y396X;	0.00107429931828107	0.332
18	56390483	G	A	18	58723251	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.G1222A:p.G408R;MALT1:NM_173844:exon9:c.G1189A:p.G397R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.G1222A:p.G408R;ENSG00000172175:ENST00000345724:exon9:c.G1189A:p.G397R;	0.999967740270042	0.992
18	56390483	G	C	18	58723251	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.G1222C:p.G408R;MALT1:NM_173844:exon9:c.G1189C:p.G397R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.G1222C:p.G408R;ENSG00000172175:ENST00000345724:exon9:c.G1189C:p.G397R;	0.999992080982454	0.968
18	56390483	G	T	18	58723251	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon10:c.G1222T:p.G408W;MALT1:NM_173844:exon9:c.G1189T:p.G397W;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon10:c.G1222T:p.G408W;ENSG00000172175:ENST00000345724:exon9:c.G1189T:p.G397W;	0.999950649644128	1.0
18	56390484	G	A	18	58723252	y	y	splicing	MALT1(NM_006785:exon10:c.1222+1G>A;NM_173844:exon9:c.1189+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1222+1G>A;ENST00000345724:exon9:c.1189+1G>A)	.	.	0.999990361384395	0.938
18	56390484	G	C	18	58723252	y	y	splicing	MALT1(NM_006785:exon10:c.1222+1G>C;NM_173844:exon9:c.1189+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1222+1G>C;ENST00000345724:exon9:c.1189+1G>C)	.	.	0.999990361384395	0.938
18	56390484	G	T	18	58723252	y	y	splicing	MALT1(NM_006785:exon10:c.1222+1G>T;NM_173844:exon9:c.1189+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1222+1G>T;ENST00000345724:exon9:c.1189+1G>T)	.	.	0.999990361384395	0.938
18	56390485	T	A	18	58723253	y	y	splicing	MALT1(NM_006785:exon10:c.1222+2T>A;NM_173844:exon9:c.1189+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1222+2T>A;ENST00000345724:exon9:c.1189+2T>A)	.	.	0.999988247793601	0.93
18	56390485	T	C	18	58723253	y	y	splicing	MALT1(NM_006785:exon10:c.1222+2T>C;NM_173844:exon9:c.1189+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1222+2T>C;ENST00000345724:exon9:c.1189+2T>C)	.	.	0.99991522016916	0.894
18	56390485	T	G	18	58723253	y	y	splicing	MALT1(NM_006785:exon10:c.1222+2T>G;NM_173844:exon9:c.1189+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon10:c.1222+2T>G;ENST00000345724:exon9:c.1189+2T>G)	.	.	0.999988247793601	0.93
18	56390486	A	C	18	58723254	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.982002496716017	0.792
18	56390486	A	G	18	58723254	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0163698766402874	0.4
18	56390486	A	T	18	58723254	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.984136993514417	0.764
18	56390487	A	C	18	58723255	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.570130417026402	0.44
18	56390487	A	G	18	58723255	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.941533264072193	0.704
18	56390487	A	T	18	58723255	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.962468003297464	0.748
18	56390488	G	A	18	58723256	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999912038125548	0.97
18	56390488	G	C	18	58723256	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999944899850579	0.978
18	56390488	G	T	18	58723256	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999890376925546	0.846
18	56390489	A	C	18	58723257	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0015855962886025	0.032
18	56390489	A	G	18	58723257	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.60851210541632E-4	0.006
18	56390489	A	T	18	58723257	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.28764320119962E-4	0.01
18	56390490	T	A	18	58723258	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0018199199456377	0.002
18	56390490	T	C	18	58723258	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00203534305569078	0.014
18	56390490	T	G	18	58723258	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00180375965525554	0.022
18	56390491	A	C	18	58723259	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.0668595558708E-4	0.008
18	56390491	A	G	18	58723259	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.44682472353823E-4	0.01
18	56390491	A	T	18	58723259	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.30870955723717E-4	0.0
18	56400617	T	A	18	58733385	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.38596644698391E-4	0.076
18	56400617	T	C	18	58733385	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.51793294479082E-5	0.002
18	56400617	T	G	18	58733385	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.10745131635979E-5	0.05
18	56400618	C	A	18	58733386	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.63771032671495E-4	0.054
18	56400618	C	G	18	58733386	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.53115698967653E-5	0.0
18	56400618	C	T	18	58733386	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.59576903073333E-5	0.0
18	56400619	C	A	18	58733387	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.08176834106586E-4	0.018
18	56400619	C	G	18	58733387	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.23199692245056E-4	0.014
18	56400619	C	T	18	58733387	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.10276274149155E-5	0.0
18	56400620	T	A	18	58733388	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.07239999831015E-4	0.094
18	56400620	T	C	18	58733388	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.33266969375648E-5	0.002
18	56400620	T	G	18	58733388	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.14526066690078E-4	0.044
18	56400621	C	A	18	58733389	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.78282403293519E-5	0.012
18	56400621	C	G	18	58733389	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.68735639322864E-5	0.016
18	56400621	C	T	18	58733389	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.41460201520911E-5	0.0
18	56400622	T	A	18	58733390	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.96341177055173E-4	0.024
18	56400622	T	C	18	58733390	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.33044012613261E-5	0.004
18	56400622	T	G	18	58733390	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.7906624889833E-4	0.07
18	56400623	T	A	18	58733391	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.39487446756782E-4	0.034
18	56400623	T	C	18	58733391	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.68134885716014E-5	0.008
18	56400623	T	G	18	58733391	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.68897304245106E-4	0.096
18	56400624	T	A	18	58733392	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.01554753832808E-4	0.07
18	56400624	T	C	18	58733392	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.11963308247793E-5	0.006
18	56400624	T	G	18	58733392	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.1189618986048E-4	0.106
18	56400625	T	A	18	58733393	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.9615140884561E-5	0.0
18	56400625	T	C	18	58733393	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.319213117465E-5	0.01
18	56400625	T	G	18	58733393	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.13688187869802E-4	0.004
18	56400626	C	A	18	58733394	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.013775689070702	0.302
18	56400626	C	G	18	58733394	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99488696007209	0.68
18	56400626	C	T	18	58733394	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.07905885524281E-4	0.156
18	56400627	A	C	18	58733395	y	y	splicing	MALT1(NM_006785:exon11:c.1223-2A>C;NM_173844:exon10:c.1190-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1223-2A>C;ENST00000345724:exon10:c.1190-2A>C)	.	.	0.999988247793601	0.926
18	56400627	A	G	18	58733395	y	y	splicing	MALT1(NM_006785:exon11:c.1223-2A>G;NM_173844:exon10:c.1190-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1223-2A>G;ENST00000345724:exon10:c.1190-2A>G)	.	.	0.999988247793601	0.926
18	56400627	A	T	18	58733395	y	y	splicing	MALT1(NM_006785:exon11:c.1223-2A>T;NM_173844:exon10:c.1190-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1223-2A>T;ENST00000345724:exon10:c.1190-2A>T)	.	.	0.999988247793601	0.926
18	56400628	G	A	18	58733396	y	y	splicing	MALT1(NM_006785:exon11:c.1223-1G>A;NM_173844:exon10:c.1190-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1223-1G>A;ENST00000345724:exon10:c.1190-1G>A)	.	.	0.999986675681007	0.934
18	56400628	G	C	18	58733396	y	y	splicing	MALT1(NM_006785:exon11:c.1223-1G>C;NM_173844:exon10:c.1190-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1223-1G>C;ENST00000345724:exon10:c.1190-1G>C)	.	.	0.999986675681007	0.934
18	56400628	G	T	18	58733396	y	y	splicing	MALT1(NM_006785:exon11:c.1223-1G>T;NM_173844:exon10:c.1190-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1223-1G>T;ENST00000345724:exon10:c.1190-1G>T)	.	.	0.999986675681007	0.934
18	56400629	G	A	18	58733397	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.G1223A:p.G408E;MALT1:NM_173844:exon10:c.G1190A:p.G397E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1223A:p.G408E;ENSG00000172175:ENST00000345724:exon10:c.G1190A:p.G397E;	0.997583786288945	0.784
18	56400629	G	C	18	58733397	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.G1223C:p.G408A;MALT1:NM_173844:exon10:c.G1190C:p.G397A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1223C:p.G408A;ENSG00000172175:ENST00000345724:exon10:c.G1190C:p.G397A;	0.998599740405271	0.758
18	56400629	G	T	18	58733397	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.G1223T:p.G408V;MALT1:NM_173844:exon10:c.G1190T:p.G397V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1223T:p.G408V;ENSG00000172175:ENST00000345724:exon10:c.G1190T:p.G397V;	0.997828440961279	0.724
18	56400630	G	A	18	58733398	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon11:c.G1224A:p.G408G;MALT1:NM_173844:exon10:c.G1191A:p.G397G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1224A:p.G408G;ENSG00000172175:ENST00000345724:exon10:c.G1191A:p.G397G;	6.16281830014857E-5	0.0
18	56400630	G	C	18	58733398	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon11:c.G1224C:p.G408G;MALT1:NM_173844:exon10:c.G1191C:p.G397G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1224C:p.G408G;ENSG00000172175:ENST00000345724:exon10:c.G1191C:p.G397G;	1.0921503164223E-4	0.012
18	56400630	G	T	18	58733398	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon11:c.G1224T:p.G408G;MALT1:NM_173844:exon10:c.G1191T:p.G397G;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1224T:p.G408G;ENSG00000172175:ENST00000345724:exon10:c.G1191T:p.G397G;	2.93135099039269E-5	0.004
18	56400804	A	C	18	58733572	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.A1398C:p.K466N;MALT1:NM_173844:exon10:c.A1365C:p.K455N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.A1398C:p.K466N;ENSG00000172175:ENST00000345724:exon10:c.A1365C:p.K455N;	0.0339800212275445	0.182
18	56400804	A	G	18	58733572	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon11:c.A1398G:p.K466K;MALT1:NM_173844:exon10:c.A1365G:p.K455K;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.A1398G:p.K466K;ENSG00000172175:ENST00000345724:exon10:c.A1365G:p.K455K;	7.2921178905446E-4	0.014
18	56400804	A	T	18	58733572	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.A1398T:p.K466N;MALT1:NM_173844:exon10:c.A1365T:p.K455N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.A1398T:p.K466N;ENSG00000172175:ENST00000345724:exon10:c.A1365T:p.K455N;	0.136262896997211	0.244
18	56400805	A	C	18	58733573	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon11:c.A1399C:p.R467R;MALT1:NM_173844:exon10:c.A1366C:p.R456R;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.A1399C:p.R467R;ENSG00000172175:ENST00000345724:exon10:c.A1366C:p.R456R;	0.968183533406137	0.652
18	56400805	A	G	18	58733573	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.A1399G:p.R467G;MALT1:NM_173844:exon10:c.A1366G:p.R456G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.A1399G:p.R467G;ENSG00000172175:ENST00000345724:exon10:c.A1366G:p.R456G;	0.993316436049776	0.78
18	56400805	A	T	18	58733573	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon11:c.A1399T:p.R467X;MALT1:NM_173844:exon10:c.A1366T:p.R456X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon11:c.A1399T:p.R467X;ENSG00000172175:ENST00000345724:exon10:c.A1366T:p.R456X;	0.989060861804448	0.602
18	56400806	G	A	18	58733574	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.G1400A:p.R467K;MALT1:NM_173844:exon10:c.G1367A:p.R456K;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1400A:p.R467K;ENSG00000172175:ENST00000345724:exon10:c.G1367A:p.R456K;	0.998921995123096	0.84
18	56400806	G	C	18	58733574	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.G1400C:p.R467T;MALT1:NM_173844:exon10:c.G1367C:p.R456T;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1400C:p.R467T;ENSG00000172175:ENST00000345724:exon10:c.G1367C:p.R456T;	0.999102301103396	0.92
18	56400806	G	T	18	58733574	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon11:c.G1400T:p.R467I;MALT1:NM_173844:exon10:c.G1367T:p.R456I;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon11:c.G1400T:p.R467I;ENSG00000172175:ENST00000345724:exon10:c.G1367T:p.R456I;	0.998698073474685	0.846
18	56400807	G	A	18	58733575	y	y	splicing	MALT1(NM_006785:exon11:c.1400+1G>A;NM_173844:exon10:c.1367+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1400+1G>A;ENST00000345724:exon10:c.1367+1G>A)	.	.	0.999985532734767	0.936
18	56400807	G	C	18	58733575	y	y	splicing	MALT1(NM_006785:exon11:c.1400+1G>C;NM_173844:exon10:c.1367+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1400+1G>C;ENST00000345724:exon10:c.1367+1G>C)	.	.	0.999985532734767	0.936
18	56400807	G	T	18	58733575	y	y	splicing	MALT1(NM_006785:exon11:c.1400+1G>T;NM_173844:exon10:c.1367+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1400+1G>T;ENST00000345724:exon10:c.1367+1G>T)	.	.	0.999985532734767	0.936
18	56400808	T	A	18	58733576	y	y	splicing	MALT1(NM_006785:exon11:c.1400+2T>A;NM_173844:exon10:c.1367+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1400+2T>A;ENST00000345724:exon10:c.1367+2T>A)	.	.	0.999988247793601	0.928
18	56400808	T	C	18	58733576	y	y	splicing	MALT1(NM_006785:exon11:c.1400+2T>C;NM_173844:exon10:c.1367+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1400+2T>C;ENST00000345724:exon10:c.1367+2T>C)	.	.	0.992783534660112	0.654
18	56400808	T	G	18	58733576	y	y	splicing	MALT1(NM_006785:exon11:c.1400+2T>G;NM_173844:exon10:c.1367+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon11:c.1400+2T>G;ENST00000345724:exon10:c.1367+2T>G)	.	.	0.999988247793601	0.928
18	56400809	A	C	18	58733577	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.930723202997735	0.62
18	56400809	A	G	18	58733577	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0363072858368125	0.142
18	56400809	A	T	18	58733577	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.676857190680144	0.56
18	56400810	A	C	18	58733578	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0181627223705611	0.268
18	56400810	A	G	18	58733578	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0365065931991147	0.362
18	56400810	A	T	18	58733578	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0395716454908155	0.254
18	56400811	G	A	18	58733579	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.191447529697445	0.486
18	56400811	G	C	18	58733579	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.267434814339568	0.42
18	56400811	G	T	18	58733579	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.299978729893159	0.422
18	56400812	T	A	18	58733580	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.02109438809225E-4	0.036
18	56400812	T	C	18	58733580	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.1443568283281E-4	0.01
18	56400812	T	G	18	58733580	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.6609175775461E-4	0.01
18	56400813	T	A	18	58733581	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.85729531884366E-4	0.002
18	56400813	T	C	18	58733581	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.07981116501366E-4	0.006
18	56400813	T	G	18	58733581	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.07981116501366E-4	0.002
18	56400814	T	A	18	58733582	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.05923468377003E-4	0.002
18	56400814	T	C	18	58733582	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.97897577769029E-4	0.016
18	56400814	T	G	18	58733582	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.80151784508298E-4	0.014
18	56401527	T	A	18	58734295	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.257243268095357	0.432
18	56401527	T	C	18	58734295	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.76140906459695E-5	0.062
18	56401527	T	G	18	58734295	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00739885847378953	0.398
18	56401528	C	A	18	58734296	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0125455278022926	0.038
18	56401528	C	G	18	58734296	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00559887483357956	0.058
18	56401528	C	T	18	58734296	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.6225886637179E-4	0.004
18	56401529	C	A	18	58734297	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00397175804717132	0.132
18	56401529	C	G	18	58734297	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0047167386663633	0.086
18	56401529	C	T	18	58734297	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.43268304518311E-4	0.004
18	56401530	C	A	18	58734298	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.49928533647121E-4	0.158
18	56401530	C	G	18	58734298	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.41715306744378E-4	0.178
18	56401530	C	T	18	58734298	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.74476702149901E-5	0.042
18	56401531	T	A	18	58734299	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0040564004699277	0.106
18	56401531	T	C	18	58734299	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.39593688839399E-5	0.0
18	56401531	T	G	18	58734299	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00105889844961854	0.112
18	56401532	T	A	18	58734300	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0212724552208993	0.168
18	56401532	T	C	18	58734300	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.23423357142636E-4	0.022
18	56401532	T	G	18	58734300	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0335329296803339	0.216
18	56401533	A	C	18	58734301	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.92806796422702E-5	0.056
18	56401533	A	G	18	58734301	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.20967195787105E-5	0.0
18	56401533	A	T	18	58734301	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.45612225627207E-5	0.0
18	56401534	A	C	18	58734302	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.03078926999334E-4	0.012
18	56401534	A	G	18	58734302	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.997999846267779	0.966
18	56401534	A	T	18	58734302	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.13398656261204E-5	0.088
18	56401535	A	C	18	58734303	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.64712250856255E-5	0.026
18	56401535	A	G	18	58734303	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.953344834875431	0.854
18	56401535	A	T	18	58734303	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.89966718386527E-4	0.052
18	56401536	T	A	18	58734304	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0220910016542579	0.27
18	56401536	T	C	18	58734304	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.75198583002286E-4	0.042
18	56401536	T	G	18	58734304	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.964671359197998	0.594
18	56401537	A	C	18	58734305	y	y	splicing	MALT1(NM_006785:exon12:c.1401-2A>C;NM_173844:exon11:c.1368-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1401-2A>C;ENST00000345724:exon11:c.1368-2A>C)	.	.	0.999954785339841	0.898
18	56401537	A	G	18	58734305	y	y	splicing	MALT1(NM_006785:exon12:c.1401-2A>G;NM_173844:exon11:c.1368-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1401-2A>G;ENST00000345724:exon11:c.1368-2A>G)	.	.	0.999954785339841	0.898
18	56401537	A	T	18	58734305	y	y	splicing	MALT1(NM_006785:exon12:c.1401-2A>T;NM_173844:exon11:c.1368-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1401-2A>T;ENST00000345724:exon11:c.1368-2A>T)	.	.	0.999954785339841	0.888
18	56401538	G	A	18	58734306	y	y	splicing	MALT1(NM_006785:exon12:c.1401-1G>A;NM_173844:exon11:c.1368-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1401-1G>A;ENST00000345724:exon11:c.1368-1G>A)	.	.	0.999964411105118	0.892
18	56401538	G	C	18	58734306	y	y	splicing	MALT1(NM_006785:exon12:c.1401-1G>C;NM_173844:exon11:c.1368-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1401-1G>C;ENST00000345724:exon11:c.1368-1G>C)	.	.	0.999954225685311	0.884
18	56401538	G	T	18	58734306	y	y	splicing	MALT1(NM_006785:exon12:c.1401-1G>T;NM_173844:exon11:c.1368-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1401-1G>T;ENST00000345724:exon11:c.1368-1G>T)	.	.	0.999954225685311	0.89
18	56401539	A	C	18	58734307	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.A1401C:p.R467S;MALT1:NM_173844:exon11:c.A1368C:p.R456S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1401C:p.R467S;ENSG00000172175:ENST00000345724:exon11:c.A1368C:p.R456S;	0.0135431889190831	0.124
18	56401539	A	G	18	58734307	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon12:c.A1401G:p.R467R;MALT1:NM_173844:exon11:c.A1368G:p.R456R;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1401G:p.R467R;ENSG00000172175:ENST00000345724:exon11:c.A1368G:p.R456R;	6.60801341146475E-5	0.002
18	56401539	A	T	18	58734307	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.A1401T:p.R467S;MALT1:NM_173844:exon11:c.A1368T:p.R456S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1401T:p.R467S;ENSG00000172175:ENST00000345724:exon11:c.A1368T:p.R456S;	0.0104442103096575	0.102
18	56401540	A	C	18	58734308	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.A1402C:p.N468H;MALT1:NM_173844:exon11:c.A1369C:p.N457H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1402C:p.N468H;ENSG00000172175:ENST00000345724:exon11:c.A1369C:p.N457H;	0.736487639124028	0.706
18	56401540	A	G	18	58734308	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.A1402G:p.N468D;MALT1:NM_173844:exon11:c.A1369G:p.N457D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1402G:p.N468D;ENSG00000172175:ENST00000345724:exon11:c.A1369G:p.N457D;	0.798623452181295	0.666
18	56401540	A	T	18	58734308	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.A1402T:p.N468Y;MALT1:NM_173844:exon11:c.A1369T:p.N457Y;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1402T:p.N468Y;ENSG00000172175:ENST00000345724:exon11:c.A1369T:p.N457Y;	0.724633373325984	0.628
18	56401611	C	A	18	58734379	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon12:c.C1473A:p.A491A;MALT1:NM_173844:exon11:c.C1440A:p.A480A;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.C1473A:p.A491A;ENSG00000172175:ENST00000345724:exon11:c.C1440A:p.A480A;	0.099379091091272	0.27
18	56401611	C	G	18	58734379	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon12:c.C1473G:p.A491A;MALT1:NM_173844:exon11:c.C1440G:p.A480A;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.C1473G:p.A491A;ENSG00000172175:ENST00000345724:exon11:c.C1440G:p.A480A;	0.0915174020131572	0.224
18	56401611	C	T	18	58734379	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon12:c.C1473T:p.A491A;MALT1:NM_173844:exon11:c.C1440T:p.A480A;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.C1473T:p.A491A;ENSG00000172175:ENST00000345724:exon11:c.C1440T:p.A480A;	0.997416137396809	0.786
18	56401612	A	C	18	58734380	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.A1474C:p.T492P;MALT1:NM_173844:exon11:c.A1441C:p.T481P;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1474C:p.T492P;ENSG00000172175:ENST00000345724:exon11:c.A1441C:p.T481P;	0.998083148575079	0.974
18	56401612	A	G	18	58734380	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.A1474G:p.T492A;MALT1:NM_173844:exon11:c.A1441G:p.T481A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1474G:p.T492A;ENSG00000172175:ENST00000345724:exon11:c.A1441G:p.T481A;	0.995171780330931	0.916
18	56401612	A	T	18	58734380	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.A1474T:p.T492S;MALT1:NM_173844:exon11:c.A1441T:p.T481S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.A1474T:p.T492S;ENSG00000172175:ENST00000345724:exon11:c.A1441T:p.T481S;	0.998519049422263	0.948
18	56401613	C	A	18	58734381	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.C1475A:p.T492K;MALT1:NM_173844:exon11:c.C1442A:p.T481K;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.C1475A:p.T492K;ENSG00000172175:ENST00000345724:exon11:c.C1442A:p.T481K;	0.295560031497076	0.492
18	56401613	C	G	18	58734381	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.C1475G:p.T492R;MALT1:NM_173844:exon11:c.C1442G:p.T481R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.C1475G:p.T492R;ENSG00000172175:ENST00000345724:exon11:c.C1442G:p.T481R;	0.166693329839051	0.512
18	56401613	C	T	18	58734381	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon12:c.C1475T:p.T492M;MALT1:NM_173844:exon11:c.C1442T:p.T481M;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon12:c.C1475T:p.T492M;ENSG00000172175:ENST00000345724:exon11:c.C1442T:p.T481M;	0.566975767505605	0.49
18	56401614	G	A	18	58734382	y	y	splicing	MALT1(NM_006785:exon12:c.1475+1G>A;NM_173844:exon11:c.1442+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1475+1G>A;ENST00000345724:exon11:c.1442+1G>A)	.	.	0.999990361384395	0.938
18	56401614	G	C	18	58734382	y	y	splicing	MALT1(NM_006785:exon12:c.1475+1G>C;NM_173844:exon11:c.1442+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1475+1G>C;ENST00000345724:exon11:c.1442+1G>C)	.	.	0.999990361384395	0.938
18	56401614	G	T	18	58734382	y	y	splicing	MALT1(NM_006785:exon12:c.1475+1G>T;NM_173844:exon11:c.1442+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1475+1G>T;ENST00000345724:exon11:c.1442+1G>T)	.	.	0.999990361384395	0.938
18	56401615	T	A	18	58734383	y	y	splicing	MALT1(NM_006785:exon12:c.1475+2T>A;NM_173844:exon11:c.1442+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1475+2T>A;ENST00000345724:exon11:c.1442+2T>A)	.	.	0.999988247793601	0.932
18	56401615	T	C	18	58734383	y	y	splicing	MALT1(NM_006785:exon12:c.1475+2T>C;NM_173844:exon11:c.1442+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1475+2T>C;ENST00000345724:exon11:c.1442+2T>C)	.	.	0.99340600729494	0.7
18	56401615	T	G	18	58734383	y	y	splicing	MALT1(NM_006785:exon12:c.1475+2T>G;NM_173844:exon11:c.1442+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon12:c.1475+2T>G;ENST00000345724:exon11:c.1442+2T>G)	.	.	0.999988247793601	0.932
18	56401616	A	C	18	58734384	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999789335700612	0.924
18	56401616	A	G	18	58734384	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.66604590413584	0.628
18	56401616	A	T	18	58734384	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999870572729389	0.968
18	56401617	A	C	18	58734385	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998682978099642	0.894
18	56401617	A	G	18	58734385	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.998095198987658	0.99
18	56401617	A	T	18	58734385	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999471519488162	0.942
18	56401618	G	A	18	58734386	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999980047631203	0.996
18	56401618	G	C	18	58734386	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999840814082277	0.998
18	56401618	G	T	18	58734386	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999984258114269	0.982
18	56401619	A	C	18	58734387	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.15129952531265E-4	0.026
18	56401619	A	G	18	58734387	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.20430171151434E-5	0.0
18	56401619	A	T	18	58734387	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.79868044927326E-5	0.022
18	56401620	A	C	18	58734388	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00491178609862307	0.03
18	56401620	A	G	18	58734388	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00633883849230405	0.018
18	56401620	A	T	18	58734388	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00517784304365493	0.022
18	56401621	C	A	18	58734389	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.2478317237867E-4	0.0
18	56401621	C	G	18	58734389	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.2478317237867E-4	0.0
18	56401621	C	T	18	58734389	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.19838496773655E-5	0.0
18	56402422	T	A	18	58735190	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.94660628145762E-4	0.082
18	56402422	T	C	18	58735190	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.00582544038638E-5	0.004
18	56402422	T	G	18	58735190	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.43061366665017E-4	0.074
18	56402423	C	A	18	58735191	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.25549558840166E-4	0.06
18	56402423	C	G	18	58735191	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.31937593054861E-4	0.022
18	56402423	C	T	18	58735191	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.05196915485908E-5	0.004
18	56402424	T	A	18	58735192	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.722698378273023	0.52
18	56402424	T	C	18	58735192	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0336959515434682	0.332
18	56402424	T	G	18	58735192	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.469574279122997	0.474
18	56402425	A	C	18	58735193	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.90495740420462E-5	0.002
18	56402425	A	G	18	58735193	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.26772757036218E-5	0.012
18	56402425	A	T	18	58735193	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.36601191752542E-5	0.002
18	56402426	T	A	18	58735194	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00808840595200655	0.058
18	56402426	T	C	18	58735194	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.38675855498483E-4	0.024
18	56402426	T	G	18	58735194	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999100881364715	0.966
18	56402427	T	A	18	58735195	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0101000150826145	0.064
18	56402427	T	C	18	58735195	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.43676946666724E-5	0.0
18	56402427	T	G	18	58735195	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0013766525291339	0.036
18	56402428	T	A	18	58735196	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0276589456469769	0.192
18	56402428	T	C	18	58735196	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.74895475234743E-4	0.096
18	56402428	T	G	18	58735196	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0222683805904261	0.172
18	56402429	T	A	18	58735197	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.192369257978722	0.458
18	56402429	T	C	18	58735197	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.64850468876545E-4	0.06
18	56402429	T	G	18	58735197	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.570476241438185	0.502
18	56402430	T	A	18	58735198	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00206429788275131	0.038
18	56402430	T	C	18	58735198	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.93695869593566E-4	0.046
18	56402430	T	G	18	58735198	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.66859168393657E-4	0.04
18	56402431	A	C	18	58735199	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.46881576313108E-4	0.044
18	56402431	A	G	18	58735199	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.152225476618217	0.274
18	56402431	A	T	18	58735199	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.15617238803886E-4	0.0
18	56402432	A	C	18	58735200	y	y	splicing	MALT1(NM_006785:exon13:c.1476-2A>C;NM_173844:exon12:c.1443-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1476-2A>C;ENST00000345724:exon12:c.1443-2A>C)	.	.	0.999989917668626	0.928
18	56402432	A	G	18	58735200	y	y	splicing	MALT1(NM_006785:exon13:c.1476-2A>G;NM_173844:exon12:c.1443-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1476-2A>G;ENST00000345724:exon12:c.1443-2A>G)	.	.	0.999989917668626	0.928
18	56402432	A	T	18	58735200	y	y	splicing	MALT1(NM_006785:exon13:c.1476-2A>T;NM_173844:exon12:c.1443-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1476-2A>T;ENST00000345724:exon12:c.1443-2A>T)	.	.	0.999989917668626	0.928
18	56402433	G	A	18	58735201	y	y	splicing	MALT1(NM_006785:exon13:c.1476-1G>A;NM_173844:exon12:c.1443-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1476-1G>A;ENST00000345724:exon12:c.1443-1G>A)	.	.	0.999986675681007	0.94
18	56402433	G	C	18	58735201	y	y	splicing	MALT1(NM_006785:exon13:c.1476-1G>C;NM_173844:exon12:c.1443-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1476-1G>C;ENST00000345724:exon12:c.1443-1G>C)	.	.	0.999986675681007	0.94
18	56402433	G	T	18	58735201	y	y	splicing	MALT1(NM_006785:exon13:c.1476-1G>T;NM_173844:exon12:c.1443-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1476-1G>T;ENST00000345724:exon12:c.1443-1G>T)	.	.	0.999986675681007	0.94
18	56402434	G	A	18	58735202	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon13:c.G1476A:p.T492T;MALT1:NM_173844:exon12:c.G1443A:p.T481T;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.G1476A:p.T492T;ENSG00000172175:ENST00000345724:exon12:c.G1443A:p.T481T;	0.577903416970563	0.538
18	56402434	G	C	18	58735202	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon13:c.G1476C:p.T492T;MALT1:NM_173844:exon12:c.G1443C:p.T481T;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.G1476C:p.T492T;ENSG00000172175:ENST00000345724:exon12:c.G1443C:p.T481T;	0.896707344323847	0.582
18	56402434	G	T	18	58735202	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon13:c.G1476T:p.T492T;MALT1:NM_173844:exon12:c.G1443T:p.T481T;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.G1476T:p.T492T;ENSG00000172175:ENST00000345724:exon12:c.G1443T:p.T481T;	0.975284874566401	0.65
18	56402435	T	A	18	58735203	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.T1477A:p.C493S;MALT1:NM_173844:exon12:c.T1444A:p.C482S;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.T1477A:p.C493S;ENSG00000172175:ENST00000345724:exon12:c.T1444A:p.C482S;	0.119180223662895	0.452
18	56402435	T	C	18	58735203	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.T1477C:p.C493R;MALT1:NM_173844:exon12:c.T1444C:p.C482R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.T1477C:p.C493R;ENSG00000172175:ENST00000345724:exon12:c.T1444C:p.C482R;	0.391314179301308	0.498
18	56402435	T	G	18	58735203	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.T1477G:p.C493G;MALT1:NM_173844:exon12:c.T1444G:p.C482G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.T1477G:p.C493G;ENSG00000172175:ENST00000345724:exon12:c.T1444G:p.C482G;	0.18081047851437	0.51
18	56402559	A	C	18	58735327	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.A1601C:p.E534A;MALT1:NM_173844:exon12:c.A1568C:p.E523A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.A1601C:p.E534A;ENSG00000172175:ENST00000345724:exon12:c.A1568C:p.E523A;	0.821653520564379	0.728
18	56402559	A	G	18	58735327	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.A1601G:p.E534G;MALT1:NM_173844:exon12:c.A1568G:p.E523G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.A1601G:p.E534G;ENSG00000172175:ENST00000345724:exon12:c.A1568G:p.E523G;	0.787770076183373	0.426
18	56402559	A	T	18	58735327	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.A1601T:p.E534V;MALT1:NM_173844:exon12:c.A1568T:p.E523V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.A1601T:p.E534V;ENSG00000172175:ENST00000345724:exon12:c.A1568T:p.E523V;	0.997398239715433	0.804
18	56402560	A	C	18	58735328	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.A1602C:p.E534D;MALT1:NM_173844:exon12:c.A1569C:p.E523D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.A1602C:p.E534D;ENSG00000172175:ENST00000345724:exon12:c.A1569C:p.E523D;	0.999881319389255	0.996
18	56402560	A	G	18	58735328	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon13:c.A1602G:p.E534E;MALT1:NM_173844:exon12:c.A1569G:p.E523E;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.A1602G:p.E534E;ENSG00000172175:ENST00000345724:exon12:c.A1569G:p.E523E;	0.999400231624614	0.964
18	56402560	A	T	18	58735328	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.A1602T:p.E534D;MALT1:NM_173844:exon12:c.A1569T:p.E523D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.A1602T:p.E534D;ENSG00000172175:ENST00000345724:exon12:c.A1569T:p.E523D;	0.999967367129555	0.996
18	56402561	G	A	18	58735329	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.G1603A:p.D535N;MALT1:NM_173844:exon12:c.G1570A:p.D524N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.G1603A:p.D535N;ENSG00000172175:ENST00000345724:exon12:c.G1570A:p.D524N;	0.999994213248802	1.0
18	56402561	G	C	18	58735329	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.G1603C:p.D535H;MALT1:NM_173844:exon12:c.G1570C:p.D524H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.G1603C:p.D535H;ENSG00000172175:ENST00000345724:exon12:c.G1570C:p.D524H;	0.999997852716802	1.0
18	56402561	G	T	18	58735329	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon13:c.G1603T:p.D535Y;MALT1:NM_173844:exon12:c.G1570T:p.D524Y;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon13:c.G1603T:p.D535Y;ENSG00000172175:ENST00000345724:exon12:c.G1570T:p.D524Y;	0.999989622619037	0.994
18	56402562	G	A	18	58735330	y	y	splicing	MALT1(NM_006785:exon13:c.1603+1G>A;NM_173844:exon12:c.1570+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1603+1G>A;ENST00000345724:exon12:c.1570+1G>A)	.	.	0.999986675681007	0.934
18	56402562	G	C	18	58735330	y	y	splicing	MALT1(NM_006785:exon13:c.1603+1G>C;NM_173844:exon12:c.1570+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1603+1G>C;ENST00000345724:exon12:c.1570+1G>C)	.	.	0.999986675681007	0.934
18	56402562	G	T	18	58735330	y	y	splicing	MALT1(NM_006785:exon13:c.1603+1G>T;NM_173844:exon12:c.1570+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1603+1G>T;ENST00000345724:exon12:c.1570+1G>T)	.	.	0.999986675681007	0.934
18	56402563	T	A	18	58735331	y	y	splicing	MALT1(NM_006785:exon13:c.1603+2T>A;NM_173844:exon12:c.1570+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1603+2T>A;ENST00000345724:exon12:c.1570+2T>A)	.	.	0.999988247793601	0.93
18	56402563	T	C	18	58735331	y	y	splicing	MALT1(NM_006785:exon13:c.1603+2T>C;NM_173844:exon12:c.1570+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1603+2T>C;ENST00000345724:exon12:c.1570+2T>C)	.	.	0.993998724689378	0.678
18	56402563	T	G	18	58735331	y	y	splicing	MALT1(NM_006785:exon13:c.1603+2T>G;NM_173844:exon12:c.1570+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon13:c.1603+2T>G;ENST00000345724:exon12:c.1570+2T>G)	.	.	0.999988247793601	0.93
18	56402564	A	C	18	58735332	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999940268029001	0.976
18	56402564	A	G	18	58735332	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.997598639590277	0.81
18	56402564	A	T	18	58735332	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999981586302063	0.968
18	56402565	A	C	18	58735333	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.73996161021783	0.462
18	56402565	A	G	18	58735333	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.824394585353985	0.636
18	56402565	A	T	18	58735333	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.692154706166457	0.426
18	56402566	A	C	18	58735334	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0018272644576761	0.14
18	56402566	A	G	18	58735334	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00277109130288447	0.056
18	56402566	A	T	18	58735334	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00930687877199217	0.098
18	56402567	A	C	18	58735335	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00107255055544722	0.03
18	56402567	A	G	18	58735335	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.8343974471137E-4	0.002
18	56402567	A	T	18	58735335	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.80584632563345E-4	0.008
18	56402568	T	A	18	58735336	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.47083454550989E-5	0.0
18	56402568	T	C	18	58735336	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.11063997313034E-5	0.0
18	56402568	T	G	18	58735336	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.11063997313034E-5	0.0
18	56402569	A	C	18	58735337	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.19886492843966E-5	0.0
18	56402569	A	G	18	58735337	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.56922368691864E-4	0.0
18	56402569	A	T	18	58735337	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.14261718914719E-4	0.012
18	56409085	C	A	18	58741853	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.12445292346001E-4	0.028
18	56409085	C	G	18	58741853	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.02116843612399E-4	0.04
18	56409085	C	T	18	58741853	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.11756753182774E-4	0.012
18	56409086	A	C	18	58741854	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.08083370948417E-5	0.004
18	56409086	A	G	18	58741854	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.56331341381302E-5	0.01
18	56409086	A	T	18	58741854	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.44454864601701E-5	0.042
18	56409087	T	A	18	58741855	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.990481861187231	0.714
18	56409087	T	C	18	58741855	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0801119616440763	0.354
18	56409087	T	G	18	58741855	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999881452727204	0.928
18	56409088	A	C	18	58741856	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.33684387120537E-5	0.012
18	56409088	A	G	18	58741856	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.1720530370805E-5	0.01
18	56409088	A	T	18	58741856	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.81568009872374E-5	0.02
18	56409089	T	A	18	58741857	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0304838756886054	0.23
18	56409089	T	C	18	58741857	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.35775165368414E-4	0.02
18	56409089	T	G	18	58741857	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99935471318308	0.984
18	56409090	C	A	18	58741858	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.60396147327504E-4	0.09
18	56409090	C	G	18	58741858	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.36289429203938E-4	0.072
18	56409090	C	T	18	58741858	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.08103716931016E-5	0.026
18	56409091	T	A	18	58741859	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.801606481610331	0.476
18	56409091	T	C	18	58741859	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00343373709733498	0.064
18	56409091	T	G	18	58741859	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.731422983308378	0.484
18	56409092	T	A	18	58741860	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.954918386204254	0.678
18	56409092	T	C	18	58741860	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0018189649089285	0.048
18	56409092	T	G	18	58741860	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.91169227193133	0.652
18	56409093	T	A	18	58741861	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00716585465205203	0.032
18	56409093	T	C	18	58741861	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0027199919353886	0.022
18	56409093	T	G	18	58741861	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00257080679967408	0.046
18	56409094	T	A	18	58741862	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0125652876687298	0.196
18	56409094	T	C	18	58741862	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.72630777514583E-5	0.022
18	56409094	T	G	18	58741862	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.973174655695583	0.636
18	56409095	A	C	18	58741863	y	y	splicing	MALT1(NM_006785:exon14:c.1604-2A>C;NM_173844:exon13:c.1571-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1604-2A>C;ENST00000345724:exon13:c.1571-2A>C)	.	.	0.999992446697775	0.93
18	56409095	A	G	18	58741863	y	y	splicing	MALT1(NM_006785:exon14:c.1604-2A>G;NM_173844:exon13:c.1571-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1604-2A>G;ENST00000345724:exon13:c.1571-2A>G)	.	.	0.999992446697775	0.93
18	56409095	A	T	18	58741863	y	y	splicing	MALT1(NM_006785:exon14:c.1604-2A>T;NM_173844:exon13:c.1571-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1604-2A>T;ENST00000345724:exon13:c.1571-2A>T)	.	.	0.999992446697775	0.93
18	56409096	G	A	18	58741864	y	y	splicing	MALT1(NM_006785:exon14:c.1604-1G>A;NM_173844:exon13:c.1571-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1604-1G>A;ENST00000345724:exon13:c.1571-1G>A)	.	.	0.999988247793601	0.922
18	56409096	G	C	18	58741864	y	y	splicing	MALT1(NM_006785:exon14:c.1604-1G>C;NM_173844:exon13:c.1571-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1604-1G>C;ENST00000345724:exon13:c.1571-1G>C)	.	.	0.999988247793601	0.922
18	56409096	G	T	18	58741864	y	y	splicing	MALT1(NM_006785:exon14:c.1604-1G>T;NM_173844:exon13:c.1571-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1604-1G>T;ENST00000345724:exon13:c.1571-1G>T)	.	.	0.999988247793601	0.922
18	56409097	A	C	18	58741865	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.A1604C:p.D535A;MALT1:NM_173844:exon13:c.A1571C:p.D524A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.A1604C:p.D535A;ENSG00000172175:ENST00000345724:exon13:c.A1571C:p.D524A;	0.214737976207066	0.584
18	56409097	A	G	18	58741865	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.A1604G:p.D535G;MALT1:NM_173844:exon13:c.A1571G:p.D524G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.A1604G:p.D535G;ENSG00000172175:ENST00000345724:exon13:c.A1571G:p.D524G;	0.67418898077626	0.634
18	56409097	A	T	18	58741865	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.A1604T:p.D535V;MALT1:NM_173844:exon13:c.A1571T:p.D524V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.A1604T:p.D535V;ENSG00000172175:ENST00000345724:exon13:c.A1571T:p.D524V;	0.271953489452001	0.476
18	56409098	T	A	18	58741866	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.T1605A:p.D535E;MALT1:NM_173844:exon13:c.T1572A:p.D524E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.T1605A:p.D535E;ENSG00000172175:ENST00000345724:exon13:c.T1572A:p.D524E;	7.60068492902611E-5	0.108
18	56409098	T	C	18	58741866	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon14:c.T1605C:p.D535D;MALT1:NM_173844:exon13:c.T1572C:p.D524D;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.T1605C:p.D535D;ENSG00000172175:ENST00000345724:exon13:c.T1572C:p.D524D;	2.83252096837679E-4	0.024
18	56409098	T	G	18	58741866	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.T1605G:p.D535E;MALT1:NM_173844:exon13:c.T1572G:p.D524E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.T1605G:p.D535E;ENSG00000172175:ENST00000345724:exon13:c.T1572G:p.D524E;	7.60068492902611E-5	0.088
18	56409244	A	C	18	58742012	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.A1751C:p.H584P;MALT1:NM_173844:exon13:c.A1718C:p.H573P;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.A1751C:p.H584P;ENSG00000172175:ENST00000345724:exon13:c.A1718C:p.H573P;	0.747280119167142	0.626
18	56409244	A	G	18	58742012	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.A1751G:p.H584R;MALT1:NM_173844:exon13:c.A1718G:p.H573R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.A1751G:p.H584R;ENSG00000172175:ENST00000345724:exon13:c.A1718G:p.H573R;	0.712268880584744	0.426
18	56409244	A	T	18	58742012	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.A1751T:p.H584L;MALT1:NM_173844:exon13:c.A1718T:p.H573L;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.A1751T:p.H584L;ENSG00000172175:ENST00000345724:exon13:c.A1718T:p.H573L;	0.992178822749009	0.678
18	56409245	T	A	18	58742013	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.T1752A:p.H584Q;MALT1:NM_173844:exon13:c.T1719A:p.H573Q;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.T1752A:p.H584Q;ENSG00000172175:ENST00000345724:exon13:c.T1719A:p.H573Q;	5.33389187893704E-4	0.39
18	56409245	T	C	18	58742013	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon14:c.T1752C:p.H584H;MALT1:NM_173844:exon13:c.T1719C:p.H573H;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.T1752C:p.H584H;ENSG00000172175:ENST00000345724:exon13:c.T1719C:p.H573H;	8.2462321874058E-5	0.036
18	56409245	T	G	18	58742013	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.T1752G:p.H584Q;MALT1:NM_173844:exon13:c.T1719G:p.H573Q;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.T1752G:p.H584Q;ENSG00000172175:ENST00000345724:exon13:c.T1719G:p.H573Q;	0.00180727840846058	0.264
18	56409246	G	A	18	58742014	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.G1753A:p.E585K;MALT1:NM_173844:exon13:c.G1720A:p.E574K;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.G1753A:p.E585K;ENSG00000172175:ENST00000345724:exon13:c.G1720A:p.E574K;	0.999994641804211	0.998
18	56409246	G	C	18	58742014	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon14:c.G1753C:p.E585Q;MALT1:NM_173844:exon13:c.G1720C:p.E574Q;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon14:c.G1753C:p.E585Q;ENSG00000172175:ENST00000345724:exon13:c.G1720C:p.E574Q;	0.999991587090545	0.924
18	56409246	G	T	18	58742014	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon14:c.G1753T:p.E585X;MALT1:NM_173844:exon13:c.G1720T:p.E574X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon14:c.G1753T:p.E585X;ENSG00000172175:ENST00000345724:exon13:c.G1720T:p.E574X;	0.999986432131011	0.968
18	56409247	G	A	18	58742015	y	y	splicing	MALT1(NM_006785:exon14:c.1753+1G>A;NM_173844:exon13:c.1720+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1753+1G>A;ENST00000345724:exon13:c.1720+1G>A)	.	.	0.999990764389106	0.916
18	56409247	G	C	18	58742015	y	y	splicing	MALT1(NM_006785:exon14:c.1753+1G>C;NM_173844:exon13:c.1720+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1753+1G>C;ENST00000345724:exon13:c.1720+1G>C)	.	.	0.999990764389106	0.916
18	56409247	G	T	18	58742015	y	y	splicing	MALT1(NM_006785:exon14:c.1753+1G>T;NM_173844:exon13:c.1720+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1753+1G>T;ENST00000345724:exon13:c.1720+1G>T)	.	.	0.999990764389106	0.916
18	56409248	T	A	18	58742016	y	y	splicing	MALT1(NM_006785:exon14:c.1753+2T>A;NM_173844:exon13:c.1720+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1753+2T>A;ENST00000345724:exon13:c.1720+2T>A)	.	.	0.999994064153128	0.928
18	56409248	T	C	18	58742016	y	y	splicing	MALT1(NM_006785:exon14:c.1753+2T>C;NM_173844:exon13:c.1720+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1753+2T>C;ENST00000345724:exon13:c.1720+2T>C)	.	.	0.999894399334162	0.852
18	56409248	T	G	18	58742016	y	y	splicing	MALT1(NM_006785:exon14:c.1753+2T>G;NM_173844:exon13:c.1720+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon14:c.1753+2T>G;ENST00000345724:exon13:c.1720+2T>G)	.	.	0.999991734811831	0.926
18	56409249	A	C	18	58742017	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999223158785825	0.862
18	56409249	A	G	18	58742017	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.694004636627229	0.422
18	56409249	A	T	18	58742017	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.997770952734127	0.89
18	56409250	C	A	18	58742018	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.45946964762049E-5	0.022
18	56409250	C	G	18	58742018	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.36663282068106E-4	0.178
18	56409250	C	T	18	58742018	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.19471375943313E-4	0.072
18	56409251	G	A	18	58742019	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.937099866282277	0.562
18	56409251	G	C	18	58742019	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.964649474606994	0.57
18	56409251	G	T	18	58742019	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.964649474606994	0.558
18	56409252	G	A	18	58742020	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.96625247133943E-4	0.014
18	56409252	G	C	18	58742020	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.49678387816306E-4	0.066
18	56409252	G	T	18	58742020	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.05798259804544E-4	0.008
18	56409253	T	A	18	58742021	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.28919416609108E-5	0.002
18	56409253	T	C	18	58742021	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.46025841607127E-5	0.002
18	56409253	T	G	18	58742021	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.56726579438816E-5	0.002
18	56409254	A	C	18	58742022	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.1727629288968E-6	0.0
18	56409254	A	G	18	58742022	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.04900693216345E-6	0.0
18	56409254	A	T	18	58742022	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.6815803950322E-6	0.0
18	56411558	G	A	18	58744326	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.72011959704405E-5	0.008
18	56411558	G	C	18	58744326	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.2772987905783E-5	0.0
18	56411558	G	T	18	58744326	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.23040033539929E-5	0.004
18	56411559	T	A	18	58744327	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.847736718059042	0.628
18	56411559	T	C	18	58744327	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.332747076881015	0.43
18	56411559	T	G	18	58744327	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.739306993706911	0.572
18	56411560	T	A	18	58744328	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.378025744802629	0.53
18	56411560	T	C	18	58744328	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0738649696633663	0.384
18	56411560	T	G	18	58744328	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.155367130563867	0.47
18	56411561	C	A	18	58744329	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00695195536884123	0.054
18	56411561	C	G	18	58744329	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0146986161915306	0.03
18	56411561	C	T	18	58744329	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.022531618488878	0.15
18	56411562	T	A	18	58744330	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00583754729023997	0.188
18	56411562	T	C	18	58744330	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.53629156595171E-4	0.004
18	56411562	T	G	18	58744330	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00119639656336983	0.074
18	56411563	T	A	18	58744331	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00321894076385801	0.116
18	56411563	T	C	18	58744331	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.85880393430528E-5	0.008
18	56411563	T	G	18	58744331	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00391947886415626	0.068
18	56411564	T	A	18	58744332	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0462927369728198	0.194
18	56411564	T	C	18	58744332	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.30101482082579E-4	0.014
18	56411564	T	G	18	58744332	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0374672215843365	0.186
18	56411565	T	A	18	58744333	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0491473535287039	0.264
18	56411565	T	C	18	58744333	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00533464935260052	0.032
18	56411565	T	G	18	58744333	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.181009573583294	0.312
18	56411566	T	A	18	58744334	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00101920252939239	0.024
18	56411566	T	C	18	58744334	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.49734342849254E-4	0.032
18	56411566	T	G	18	58744334	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.364209250538E-4	0.012
18	56411567	C	A	18	58744335	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.294426319205569	0.414
18	56411567	C	G	18	58744335	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.996363461483425	0.92
18	56411567	C	T	18	58744335	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00330173735437982	0.042
18	56411568	A	C	18	58744336	y	y	splicing	MALT1(NM_006785:exon15:c.1754-2A>C;NM_173844:exon14:c.1721-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1754-2A>C;ENST00000345724:exon14:c.1721-2A>C)	.	.	0.999988247793601	0.928
18	56411568	A	G	18	58744336	y	y	splicing	MALT1(NM_006785:exon15:c.1754-2A>G;NM_173844:exon14:c.1721-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1754-2A>G;ENST00000345724:exon14:c.1721-2A>G)	.	.	0.999988247793601	0.928
18	56411568	A	T	18	58744336	y	y	splicing	MALT1(NM_006785:exon15:c.1754-2A>T;NM_173844:exon14:c.1721-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1754-2A>T;ENST00000345724:exon14:c.1721-2A>T)	.	.	0.999988247793601	0.928
18	56411569	G	A	18	58744337	y	y	splicing	MALT1(NM_006785:exon15:c.1754-1G>A;NM_173844:exon14:c.1721-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1754-1G>A;ENST00000345724:exon14:c.1721-1G>A)	.	.	0.999986675681007	0.934
18	56411569	G	C	18	58744337	y	y	splicing	MALT1(NM_006785:exon15:c.1754-1G>C;NM_173844:exon14:c.1721-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1754-1G>C;ENST00000345724:exon14:c.1721-1G>C)	.	.	0.999986675681007	0.934
18	56411569	G	T	18	58744337	y	y	splicing	MALT1(NM_006785:exon15:c.1754-1G>T;NM_173844:exon14:c.1721-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1754-1G>T;ENST00000345724:exon14:c.1721-1G>T)	.	.	0.999986675681007	0.934
18	56411570	A	C	18	58744338	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.A1754C:p.E585A;MALT1:NM_173844:exon14:c.A1721C:p.E574A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.A1754C:p.E585A;ENSG00000172175:ENST00000345724:exon14:c.A1721C:p.E574A;	0.355495721413169	0.674
18	56411570	A	G	18	58744338	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.A1754G:p.E585G;MALT1:NM_173844:exon14:c.A1721G:p.E574G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.A1754G:p.E585G;ENSG00000172175:ENST00000345724:exon14:c.A1721G:p.E574G;	0.570867649207497	0.678
18	56411570	A	T	18	58744338	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.A1754T:p.E585V;MALT1:NM_173844:exon14:c.A1721T:p.E574V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.A1754T:p.E585V;ENSG00000172175:ENST00000345724:exon14:c.A1721T:p.E574V;	0.369005793181035	0.584
18	56411571	A	C	18	58744339	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.A1755C:p.E585D;MALT1:NM_173844:exon14:c.A1722C:p.E574D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.A1755C:p.E585D;ENSG00000172175:ENST00000345724:exon14:c.A1722C:p.E574D;	0.00119621565028485	0.106
18	56411571	A	G	18	58744339	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon15:c.A1755G:p.E585E;MALT1:NM_173844:exon14:c.A1722G:p.E574E;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.A1755G:p.E585E;ENSG00000172175:ENST00000345724:exon14:c.A1722G:p.E574E;	2.33960767886274E-4	0.028
18	56411571	A	T	18	58744339	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.A1755T:p.E585D;MALT1:NM_173844:exon14:c.A1722T:p.E574D;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.A1755T:p.E585D;ENSG00000172175:ENST00000345724:exon14:c.A1722T:p.E574D;	9.36029039295254E-6	0.05
18	56411725	C	A	18	58744493	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.C1909A:p.L637I;MALT1:NM_173844:exon14:c.C1876A:p.L626I;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.C1909A:p.L637I;ENSG00000172175:ENST00000345724:exon14:c.C1876A:p.L626I;	0.00690150782921796	0.096
18	56411725	C	G	18	58744493	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.C1909G:p.L637V;MALT1:NM_173844:exon14:c.C1876G:p.L626V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.C1909G:p.L637V;ENSG00000172175:ENST00000345724:exon14:c.C1876G:p.L626V;	0.0245905895012107	0.23
18	56411725	C	T	18	58744493	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.C1909T:p.L637F;MALT1:NM_173844:exon14:c.C1876T:p.L626F;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.C1909T:p.L637F;ENSG00000172175:ENST00000345724:exon14:c.C1876T:p.L626F;	0.676103070917839	0.554
18	56411726	T	A	18	58744494	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.T1910A:p.L637H;MALT1:NM_173844:exon14:c.T1877A:p.L626H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.T1910A:p.L637H;ENSG00000172175:ENST00000345724:exon14:c.T1877A:p.L626H;	0.0841478836021768	0.3
18	56411726	T	C	18	58744494	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.T1910C:p.L637P;MALT1:NM_173844:exon14:c.T1877C:p.L626P;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.T1910C:p.L637P;ENSG00000172175:ENST00000345724:exon14:c.T1877C:p.L626P;	0.60877163150832	0.628
18	56411726	T	G	18	58744494	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon15:c.T1910G:p.L637R;MALT1:NM_173844:exon14:c.T1877G:p.L626R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.T1910G:p.L637R;ENSG00000172175:ENST00000345724:exon14:c.T1877G:p.L626R;	0.607716012598509	0.67
18	56411727	T	A	18	58744495	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon15:c.T1911A:p.L637L;MALT1:NM_173844:exon14:c.T1878A:p.L626L;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.T1911A:p.L637L;ENSG00000172175:ENST00000345724:exon14:c.T1878A:p.L626L;	2.18779434893187E-4	0.0
18	56411727	T	C	18	58744495	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon15:c.T1911C:p.L637L;MALT1:NM_173844:exon14:c.T1878C:p.L626L;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.T1911C:p.L637L;ENSG00000172175:ENST00000345724:exon14:c.T1878C:p.L626L;	2.99911005139285E-4	0.08
18	56411727	T	G	18	58744495	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon15:c.T1911G:p.L637L;MALT1:NM_173844:exon14:c.T1878G:p.L626L;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon15:c.T1911G:p.L637L;ENSG00000172175:ENST00000345724:exon14:c.T1878G:p.L626L;	2.86715551147517E-4	0.084
18	56411728	G	A	18	58744496	y	y	splicing	MALT1(NM_006785:exon15:c.1911+1G>A;NM_173844:exon14:c.1878+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1911+1G>A;ENST00000345724:exon14:c.1878+1G>A)	.	.	0.999986675681007	0.938
18	56411728	G	C	18	58744496	y	y	splicing	MALT1(NM_006785:exon15:c.1911+1G>C;NM_173844:exon14:c.1878+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1911+1G>C;ENST00000345724:exon14:c.1878+1G>C)	.	.	0.999986675681007	0.94
18	56411728	G	T	18	58744496	y	y	splicing	MALT1(NM_006785:exon15:c.1911+1G>T;NM_173844:exon14:c.1878+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1911+1G>T;ENST00000345724:exon14:c.1878+1G>T)	.	.	0.999986675681007	0.94
18	56411729	T	A	18	58744497	y	y	splicing	MALT1(NM_006785:exon15:c.1911+2T>A;NM_173844:exon14:c.1878+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1911+2T>A;ENST00000345724:exon14:c.1878+2T>A)	.	.	0.999989917668626	0.926
18	56411729	T	C	18	58744497	y	y	splicing	MALT1(NM_006785:exon15:c.1911+2T>C;NM_173844:exon14:c.1878+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1911+2T>C;ENST00000345724:exon14:c.1878+2T>C)	.	.	0.99995132258935	0.874
18	56411729	T	G	18	58744497	y	y	splicing	MALT1(NM_006785:exon15:c.1911+2T>G;NM_173844:exon14:c.1878+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon15:c.1911+2T>G;ENST00000345724:exon14:c.1878+2T>G)	.	.	0.999989917668626	0.926
18	56411730	G	A	18	58744498	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.00951731758224E-5	0.0
18	56411730	G	C	18	58744498	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.984497648446304	0.654
18	56411730	G	T	18	58744498	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.979693139192956	0.584
18	56411731	A	C	18	58744499	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.983950871601183	0.776
18	56411731	A	G	18	58744499	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99735374300431	0.912
18	56411731	A	T	18	58744499	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999482825318807	0.886
18	56411732	G	A	18	58744500	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999975678632232	0.982
18	56411732	G	C	18	58744500	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999975678632232	0.972
18	56411732	G	T	18	58744500	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999966098357908	0.978
18	56411733	T	A	18	58744501	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.971930526425384	0.692
18	56411733	T	C	18	58744501	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.831330672955463	0.764
18	56411733	T	G	18	58744501	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.847860320912916	0.734
18	56411734	C	A	18	58744502	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.98479227400318E-5	0.006
18	56411734	C	G	18	58744502	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.01794616445505E-5	0.004
18	56411734	C	T	18	58744502	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.67413528938587E-4	0.044
18	56411735	T	A	18	58744503	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.76795741651322E-5	0.056
18	56411735	T	C	18	58744503	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.77474515622074E-5	0.018
18	56411735	T	G	18	58744503	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.32680874515627E-5	0.072
18	56412886	T	A	18	58745654	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.05026677039971E-4	0.07
18	56412886	T	C	18	58745654	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.74625881212941E-5	0.006
18	56412886	T	G	18	58745654	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.51427757089319E-5	0.074
18	56412887	T	A	18	58745655	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.45119218784837E-4	0.064
18	56412887	T	C	18	58745655	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.03556406058143E-4	0.008
18	56412887	T	G	18	58745655	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.73481794403368E-4	0.134
18	56412888	T	A	18	58745656	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.33922329517143E-4	0.006
18	56412888	T	C	18	58745656	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.64692615575424E-5	0.002
18	56412888	T	G	18	58745656	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.88979550906738E-5	0.038
18	56412889	T	A	18	58745657	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.63306001098499E-5	0.054
18	56412889	T	C	18	58745657	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.03776326979389E-5	0.006
18	56412889	T	G	18	58745657	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.65166525118794E-5	0.06
18	56412890	T	A	18	58745658	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.66287683743749E-5	0.022
18	56412890	T	C	18	58745658	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.08796394669182E-5	0.004
18	56412890	T	G	18	58745658	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.22836835623129E-5	0.022
18	56412891	T	A	18	58745659	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.57478305807152E-4	0.046
18	56412891	T	C	18	58745659	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.45486398082939E-5	0.002
18	56412891	T	G	18	58745659	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.15590489349947E-5	0.014
18	56412892	T	A	18	58745660	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.8998342024663E-4	0.088
18	56412892	T	C	18	58745660	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.20789773310814E-5	0.022
18	56412892	T	G	18	58745660	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.00143681739590991	0.11
18	56412893	T	A	18	58745661	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.37574067094352E-5	0.036
18	56412893	T	C	18	58745661	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.04437258767596E-5	0.006
18	56412893	T	G	18	58745661	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.77483577655335E-4	0.088
18	56412894	A	C	18	58745662	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.70123300422862E-4	0.016
18	56412894	A	G	18	58745662	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.63915916572906E-4	0.004
18	56412894	A	T	18	58745662	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.06344992360744E-4	0.014
18	56412895	C	A	18	58745663	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0122865614544693	0.294
18	56412895	C	G	18	58745663	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.911185933389059	0.602
18	56412895	C	T	18	58745663	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.27926231771774E-4	0.108
18	56412896	A	C	18	58745664	y	y	splicing	MALT1(NM_006785:exon16:c.1912-2A>C;NM_173844:exon15:c.1879-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.1912-2A>C;ENST00000345724:exon15:c.1879-2A>C)	.	.	0.999988247793601	0.93
18	56412896	A	G	18	58745664	y	y	splicing	MALT1(NM_006785:exon16:c.1912-2A>G;NM_173844:exon15:c.1879-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.1912-2A>G;ENST00000345724:exon15:c.1879-2A>G)	.	.	0.999988247793601	0.93
18	56412896	A	T	18	58745664	y	y	splicing	MALT1(NM_006785:exon16:c.1912-2A>T;NM_173844:exon15:c.1879-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.1912-2A>T;ENST00000345724:exon15:c.1879-2A>T)	.	.	0.999988247793601	0.93
18	56412897	G	A	18	58745665	y	y	splicing	MALT1(NM_006785:exon16:c.1912-1G>A;NM_173844:exon15:c.1879-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.1912-1G>A;ENST00000345724:exon15:c.1879-1G>A)	.	.	0.999990361384395	0.938
18	56412897	G	C	18	58745665	y	y	splicing	MALT1(NM_006785:exon16:c.1912-1G>C;NM_173844:exon15:c.1879-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.1912-1G>C;ENST00000345724:exon15:c.1879-1G>C)	.	.	0.999990361384395	0.938
18	56412897	G	T	18	58745665	y	y	splicing	MALT1(NM_006785:exon16:c.1912-1G>T;NM_173844:exon15:c.1879-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.1912-1G>T;ENST00000345724:exon15:c.1879-1G>T)	.	.	0.999990361384395	0.938
18	56412898	G	A	18	58745666	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.G1912A:p.D638N;MALT1:NM_173844:exon15:c.G1879A:p.D627N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.G1912A:p.D638N;ENSG00000172175:ENST00000345724:exon15:c.G1879A:p.D627N;	0.998413964970761	0.784
18	56412898	G	C	18	58745666	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.G1912C:p.D638H;MALT1:NM_173844:exon15:c.G1879C:p.D627H;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.G1912C:p.D638H;ENSG00000172175:ENST00000345724:exon15:c.G1879C:p.D627H;	0.999592613917319	0.782
18	56412898	G	T	18	58745666	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.G1912T:p.D638Y;MALT1:NM_173844:exon15:c.G1879T:p.D627Y;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.G1912T:p.D638Y;ENSG00000172175:ENST00000345724:exon15:c.G1879T:p.D627Y;	0.999260742235724	0.792
18	56412899	A	C	18	58745667	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.A1913C:p.D638A;MALT1:NM_173844:exon15:c.A1880C:p.D627A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.A1913C:p.D638A;ENSG00000172175:ENST00000345724:exon15:c.A1880C:p.D627A;	0.0845076796031393	0.246
18	56412899	A	G	18	58745667	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.A1913G:p.D638G;MALT1:NM_173844:exon15:c.A1880G:p.D627G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.A1913G:p.D638G;ENSG00000172175:ENST00000345724:exon15:c.A1880G:p.D627G;	0.0271517380356817	0.164
18	56412899	A	T	18	58745667	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.A1913T:p.D638V;MALT1:NM_173844:exon15:c.A1880T:p.D627V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.A1913T:p.D638V;ENSG00000172175:ENST00000345724:exon15:c.A1880T:p.D627V;	0.0171738839111185	0.228
18	56413021	A	C	18	58745789	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.A2035C:p.K679Q;MALT1:NM_173844:exon15:c.A2002C:p.K668Q;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.A2035C:p.K679Q;ENSG00000172175:ENST00000345724:exon15:c.A2002C:p.K668Q;	0.892391700578912	0.59
18	56413021	A	G	18	58745789	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.A2035G:p.K679E;MALT1:NM_173844:exon15:c.A2002G:p.K668E;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.A2035G:p.K679E;ENSG00000172175:ENST00000345724:exon15:c.A2002G:p.K668E;	0.703996926755213	0.526
18	56413021	A	T	18	58745789	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon16:c.A2035T:p.K679X;MALT1:NM_173844:exon15:c.A2002T:p.K668X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon16:c.A2035T:p.K679X;ENSG00000172175:ENST00000345724:exon15:c.A2002T:p.K668X;	0.995745116574146	0.876
18	56413022	A	C	18	58745790	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.A2036C:p.K679T;MALT1:NM_173844:exon15:c.A2003C:p.K668T;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.A2036C:p.K679T;ENSG00000172175:ENST00000345724:exon15:c.A2003C:p.K668T;	0.999906299226032	0.982
18	56413022	A	G	18	58745790	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.A2036G:p.K679R;MALT1:NM_173844:exon15:c.A2003G:p.K668R;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.A2036G:p.K679R;ENSG00000172175:ENST00000345724:exon15:c.A2003G:p.K668R;	0.999738727684491	0.984
18	56413022	A	T	18	58745790	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.A2036T:p.K679M;MALT1:NM_173844:exon15:c.A2003T:p.K668M;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.A2036T:p.K679M;ENSG00000172175:ENST00000345724:exon15:c.A2003T:p.K668M;	0.999966463355417	0.996
18	56413023	G	A	18	58745791	y	y	exonic	MALT1	synonymous SNV	MALT1:NM_006785:exon16:c.G2037A:p.K679K;MALT1:NM_173844:exon15:c.G2004A:p.K668K;	exonic	ENSG00000172175	synonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.G2037A:p.K679K;ENSG00000172175:ENST00000345724:exon15:c.G2004A:p.K668K;	0.99999328964719	0.998
18	56413023	G	C	18	58745791	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.G2037C:p.K679N;MALT1:NM_173844:exon15:c.G2004C:p.K668N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.G2037C:p.K679N;ENSG00000172175:ENST00000345724:exon15:c.G2004C:p.K668N;	0.999998047848002	0.998
18	56413023	G	T	18	58745791	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon16:c.G2037T:p.K679N;MALT1:NM_173844:exon15:c.G2004T:p.K668N;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon16:c.G2037T:p.K679N;ENSG00000172175:ENST00000345724:exon15:c.G2004T:p.K668N;	0.999990565641204	0.998
18	56413024	G	A	18	58745792	y	y	splicing	MALT1(NM_006785:exon16:c.2037+1G>A;NM_173844:exon15:c.2004+1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.2037+1G>A;ENST00000345724:exon15:c.2004+1G>A)	.	.	0.999989125585301	0.944
18	56413024	G	C	18	58745792	y	y	splicing	MALT1(NM_006785:exon16:c.2037+1G>C;NM_173844:exon15:c.2004+1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.2037+1G>C;ENST00000345724:exon15:c.2004+1G>C)	.	.	0.999989125585301	0.944
18	56413024	G	T	18	58745792	y	y	splicing	MALT1(NM_006785:exon16:c.2037+1G>T;NM_173844:exon15:c.2004+1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.2037+1G>T;ENST00000345724:exon15:c.2004+1G>T)	.	.	0.999989125585301	0.944
18	56413025	T	A	18	58745793	y	y	splicing	MALT1(NM_006785:exon16:c.2037+2T>A;NM_173844:exon15:c.2004+2T>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.2037+2T>A;ENST00000345724:exon15:c.2004+2T>A)	.	.	0.999986741007567	0.946
18	56413025	T	C	18	58745793	y	y	splicing	MALT1(NM_006785:exon16:c.2037+2T>C;NM_173844:exon15:c.2004+2T>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.2037+2T>C;ENST00000345724:exon15:c.2004+2T>C)	.	.	0.991645506214995	0.716
18	56413025	T	G	18	58745793	y	y	splicing	MALT1(NM_006785:exon16:c.2037+2T>G;NM_173844:exon15:c.2004+2T>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon16:c.2037+2T>G;ENST00000345724:exon15:c.2004+2T>G)	.	.	0.999986741007567	0.946
18	56413026	T	A	18	58745794	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.19032687019155E-4	0.074
18	56413026	T	C	18	58745794	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.99912583832758E-4	0.174
18	56413026	T	G	18	58745794	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.38104424727813E-4	0.068
18	56413027	A	C	18	58745795	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.981580727210948	0.648
18	56413027	A	G	18	58745795	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999931251632342	0.904
18	56413027	A	T	18	58745795	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.999889120805285	0.842
18	56413028	C	A	18	58745796	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.72406925176677E-4	0.24
18	56413028	C	G	18	58745796	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.53439493294148E-4	0.078
18	56413028	C	T	18	58745796	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.0108623130357E-4	0.218
18	56413029	T	A	18	58745797	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.992811718163841	0.706
18	56413029	T	C	18	58745797	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.997188793670408	0.806
18	56413029	T	G	18	58745797	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.977095624991823	0.79
18	56413030	A	C	18	58745798	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.92831034785508E-4	0.008
18	56413030	A	G	18	58745798	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.5341715854257E-4	0.1
18	56413030	A	T	18	58745798	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.4668851795052E-4	0.124
18	56413031	C	A	18	58745799	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.04473652313698E-4	0.01
18	56413031	C	G	18	58745799	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.44387912062391E-4	0.04
18	56413031	C	T	18	58745799	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.0031851790977775	0.04
18	56414625	T	A	18	58747393	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.26779100923813E-4	0.152
18	56414625	T	C	18	58747393	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.04363317807519E-4	0.044
18	56414625	T	G	18	58747393	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.06246049774775E-4	0.142
18	56414626	T	A	18	58747394	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.1383882751415E-4	0.07
18	56414626	T	C	18	58747394	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.11159839922072E-5	0.008
18	56414626	T	G	18	58747394	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.13199203624565E-4	0.092
18	56414627	T	A	18	58747395	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.17186594556743E-4	0.054
18	56414627	T	C	18	58747395	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.28584584004465E-5	0.006
18	56414627	T	G	18	58747395	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	9.17387427086039E-5	0.074
18	56414628	C	A	18	58747396	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.30472446898212E-4	0.06
18	56414628	C	G	18	58747396	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.29198108914211E-5	0.036
18	56414628	C	T	18	58747396	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.36667241638407E-5	0.0
18	56414629	C	A	18	58747397	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.80935917245644E-5	0.02
18	56414629	C	G	18	58747397	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.5656754614386E-5	0.046
18	56414629	C	T	18	58747397	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	7.10593535792348E-5	0.01
18	56414630	T	A	18	58747398	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.93294525650958E-5	0.006
18	56414630	T	C	18	58747398	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.23144741791718E-5	0.006
18	56414630	T	G	18	58747398	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.85627754454957E-5	0.002
18	56414631	T	A	18	58747399	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.16232018147713E-4	0.13
18	56414631	T	C	18	58747399	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	3.01591050122115E-5	0.022
18	56414631	T	G	18	58747399	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	4.23309783286156E-4	0.158
18	56414632	T	A	18	58747400	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.47089613394037E-4	0.104
18	56414632	T	C	18	58747400	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	6.38728049987324E-5	0.044
18	56414632	T	G	18	58747400	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	5.23634960801438E-4	0.134
18	56414633	T	A	18	58747401	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.22735006177164E-5	0.002
18	56414633	T	C	18	58747401	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	1.6683925924845E-5	0.002
18	56414633	T	G	18	58747401	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	2.15020457490687E-5	0.0
18	56414634	C	A	18	58747402	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.147074946258971	0.476
18	56414634	C	G	18	58747402	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	0.99545974123455	0.762
18	56414634	C	T	18	58747402	y	y	intronic	MALT1	.	.	ncRNA_intronic	ENSG00000267476	.	.	8.57160518663583E-4	0.114
18	56414635	A	C	18	58747403	y	y	splicing	MALT1(NM_006785:exon17:c.2038-2A>C;NM_173844:exon16:c.2005-2A>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon17:c.2038-2A>C;ENST00000345724:exon16:c.2005-2A>C)	.	.	0.999903621866699	0.868
18	56414635	A	G	18	58747403	y	y	splicing	MALT1(NM_006785:exon17:c.2038-2A>G;NM_173844:exon16:c.2005-2A>G)	.	.	splicing	ENSG00000172175(ENST00000348428:exon17:c.2038-2A>G;ENST00000345724:exon16:c.2005-2A>G)	.	.	0.999903621866699	0.876
18	56414635	A	T	18	58747403	y	y	splicing	MALT1(NM_006785:exon17:c.2038-2A>T;NM_173844:exon16:c.2005-2A>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon17:c.2038-2A>T;ENST00000345724:exon16:c.2005-2A>T)	.	.	0.999938221968836	0.894
18	56414636	G	A	18	58747404	y	y	splicing	MALT1(NM_006785:exon17:c.2038-1G>A;NM_173844:exon16:c.2005-1G>A)	.	.	splicing	ENSG00000172175(ENST00000348428:exon17:c.2038-1G>A;ENST00000345724:exon16:c.2005-1G>A)	.	.	0.999974090184857	0.936
18	56414636	G	C	18	58747404	y	y	splicing	MALT1(NM_006785:exon17:c.2038-1G>C;NM_173844:exon16:c.2005-1G>C)	.	.	splicing	ENSG00000172175(ENST00000348428:exon17:c.2038-1G>C;ENST00000345724:exon16:c.2005-1G>C)	.	.	0.999974090184857	0.93
18	56414636	G	T	18	58747404	y	y	splicing	MALT1(NM_006785:exon17:c.2038-1G>T;NM_173844:exon16:c.2005-1G>T)	.	.	splicing	ENSG00000172175(ENST00000348428:exon17:c.2038-1G>T;ENST00000345724:exon16:c.2005-1G>T)	.	.	0.999974090184857	0.936
18	56414637	G	A	18	58747405	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon17:c.G2038A:p.E680K;MALT1:NM_173844:exon16:c.G2005A:p.E669K;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon17:c.G2038A:p.E680K;ENSG00000172175:ENST00000345724:exon16:c.G2005A:p.E669K;	0.995148175011969	0.696
18	56414637	G	C	18	58747405	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon17:c.G2038C:p.E680Q;MALT1:NM_173844:exon16:c.G2005C:p.E669Q;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon17:c.G2038C:p.E680Q;ENSG00000172175:ENST00000345724:exon16:c.G2005C:p.E669Q;	0.993913143167802	0.832
18	56414637	G	T	18	58747405	y	y	exonic	MALT1	stopgain SNV	MALT1:NM_006785:exon17:c.G2038T:p.E680X;MALT1:NM_173844:exon16:c.G2005T:p.E669X;	exonic	ENSG00000172175	stopgain SNV	ENSG00000172175:ENST00000348428:exon17:c.G2038T:p.E680X;ENSG00000172175:ENST00000345724:exon16:c.G2005T:p.E669X;	0.998600515372488	0.842
18	56414638	A	C	18	58747406	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon17:c.A2039C:p.E680A;MALT1:NM_173844:exon16:c.A2006C:p.E669A;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon17:c.A2039C:p.E680A;ENSG00000172175:ENST00000345724:exon16:c.A2006C:p.E669A;	0.853747420984486	0.754
18	56414638	A	G	18	58747406	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon17:c.A2039G:p.E680G;MALT1:NM_173844:exon16:c.A2006G:p.E669G;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon17:c.A2039G:p.E680G;ENSG00000172175:ENST00000345724:exon16:c.A2006G:p.E669G;	0.78133656154094	0.494
18	56414638	A	T	18	58747406	y	y	exonic	MALT1	nonsynonymous SNV	MALT1:NM_006785:exon17:c.A2039T:p.E680V;MALT1:NM_173844:exon16:c.A2006T:p.E669V;	exonic	ENSG00000172175	nonsynonymous SNV	ENSG00000172175:ENST00000348428:exon17:c.A2039T:p.E680V;ENSG00000172175:ENST00000345724:exon16:c.A2006T:p.E669V;	0.647364623304518	0.718
18	56530396	C	A	18	58863164	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.01179829378222	0.21
18	56530396	C	G	18	58863164	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00464076183173678	0.15
18	56530396	C	T	18	58863164	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.391744078372161	0.516
18	56530397	G	A	18	58863165	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	8.96053520282798E-4	0.06
18	56530397	G	C	18	58863165	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00115856663558733	0.054
18	56530397	G	T	18	58863165	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	7.96960340478949E-4	0.064
18	56530398	A	C	18	58863166	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0083584962897395	0.122
18	56530398	A	G	18	58863166	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00162810686145997	0.078
18	56530398	A	T	18	58863166	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0154949233159471	0.298
18	56530399	G	A	18	58863167	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999993672935256	0.924
18	56530399	G	C	18	58863167	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999993672935256	0.924
18	56530399	G	T	18	58863167	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999993672935256	0.924
18	56530400	T	A	18	58863168	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999991781128047	0.926
18	56530400	T	C	18	58863168	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.988434484484744	0.586
18	56530400	T	G	18	58863168	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999978791067592	0.926
18	56530401	A	C	18	58863169	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999897793718851	0.904
18	56530401	A	G	18	58863169	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.45381184575871	0.364
18	56530401	A	T	18	58863169	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999887341802763	0.974
18	56530402	A	C	18	58863170	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.998709567911923	0.864
18	56530402	A	G	18	58863170	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.997688990724335	0.956
18	56530402	A	T	18	58863170	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999082855790795	0.93
18	56530403	G	A	18	58863171	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999985473255677	0.986
18	56530403	G	C	18	58863171	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999983298545157	1.0
18	56530403	G	T	18	58863171	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99998275194437	0.974
18	56530404	T	A	18	58863172	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.980097992572408	0.668
18	56530404	T	C	18	58863172	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.794674743830493	0.706
18	56530404	T	G	18	58863172	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.956413746448691	0.714
18	56530405	C	A	18	58863173	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.00583409266057E-4	0.016
18	56530405	C	G	18	58863173	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.00583409266057E-4	0.012
18	56530405	C	T	18	58863173	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.75878927560657E-4	0.0
18	56530406	G	A	18	58863174	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00764482882370293	0.038
18	56530406	G	C	18	58863174	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00880493352886119	0.046
18	56530406	G	T	18	58863174	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00763093399040979	0.042
18	56530916	A	C	18	58863684	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.26234504709872E-5	0.0
18	56530916	A	G	18	58863684	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.26234504709872E-5	0.0
18	56530916	A	T	18	58863684	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.26234504709872E-5	0.0
18	56530917	A	C	18	58863685	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.85335338502206E-4	0.008
18	56530917	A	G	18	58863685	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.85335338502206E-4	0.008
18	56530917	A	T	18	58863685	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	6.94545935591282E-4	0.01
18	56530918	G	A	18	58863686	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00110797651291257	0.0
18	56530918	G	C	18	58863686	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00110797651291257	0.0
18	56530918	G	T	18	58863686	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00110797651291257	0.0
18	56530919	G	A	18	58863687	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00199590941298324	0.006
18	56530919	G	C	18	58863687	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00110797651291257	0.0
18	56530919	G	T	18	58863687	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00141933632192121	0.0
18	56530920	T	A	18	58863688	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	1.06942552914845E-4	0.002
18	56530920	T	C	18	58863688	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	1.25418891334787E-4	0.03
18	56530920	T	G	18	58863688	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	1.25418891334787E-4	0.044
18	56530921	C	A	18	58863689	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00223172515695393	0.01
18	56530921	C	G	18	58863689	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00165839143970926	0.01
18	56530921	C	T	18	58863689	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00223172515695393	0.01
18	56530922	A	C	18	58863690	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	7.12291001416209E-5	0.002
18	56530922	A	G	18	58863690	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	7.04673267521572E-5	0.002
18	56530922	A	T	18	58863690	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	7.02620256074152E-5	0.0
18	56530923	T	A	18	58863691	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.33589132124046E-4	0.002
18	56530923	T	C	18	58863691	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.90668600164784E-4	0.0
18	56530923	T	G	18	58863691	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.90668600164784E-4	0.0
18	56530924	C	A	18	58863692	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00199590941298324	0.006
18	56530924	C	G	18	58863692	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00110797651291257	0.002
18	56530924	C	T	18	58863692	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00199590941298324	0.012
18	56530925	C	A	18	58863693	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	5.30245828806351E-5	0.0
18	56530925	C	G	18	58863693	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	5.30245828806351E-5	0.0
18	56530925	C	T	18	58863693	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	5.30245828806351E-5	0.0
18	56530926	G	A	18	58863694	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.27663618654402E-4	0.002
18	56530926	G	C	18	58863694	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	7.79790150123835E-5	0.0
18	56530926	G	T	18	58863694	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.27663618654402E-4	0.022
18	56530980	G	A	18	58863748	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00223172515695393	0.028
18	56530980	G	C	18	58863748	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00236544145345248	0.004
18	56530980	G	T	18	58863748	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00165839143970926	0.008
18	56530981	G	A	18	58863749	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00223172515695393	0.004
18	56530981	G	C	18	58863749	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00127198210562724	0.004
18	56530981	G	T	18	58863749	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00165839143970926	0.002
18	56530982	G	A	18	58863750	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.29699117342802E-4	0.002
18	56530982	G	C	18	58863750	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.8511678204642E-4	0.038
18	56530982	G	T	18	58863750	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.8511678204642E-4	0.0
18	56530983	G	A	18	58863751	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00236544145345248	0.004
18	56530983	G	C	18	58863751	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00199590941298324	0.008
18	56530983	G	T	18	58863751	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00201744380989017	0.01
18	56530984	T	A	18	58863752	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	4.05788112841458E-4	0.024
18	56530984	T	C	18	58863752	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	4.05788112841458E-4	0.026
18	56530984	T	G	18	58863752	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	4.05788112841458E-4	0.024
18	56530985	G	A	18	58863753	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00223172515695393	0.002
18	56530985	G	C	18	58863753	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00226836927864258	0.002
18	56530985	G	T	18	58863753	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00223172515695393	0.004
18	56530986	G	A	18	58863754	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.29699117342802E-4	0.0
18	56530986	G	C	18	58863754	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.8511678204642E-4	0.0
18	56530986	G	T	18	58863754	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.94434206078825E-5	0.0
18	56530987	G	A	18	58863755	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00223172515695393	0.004
18	56530987	G	C	18	58863755	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00165839143970926	0.002
18	56530987	G	T	18	58863755	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00223172515695393	0.004
18	56530988	T	A	18	58863756	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.05788112841458E-4	0.02
18	56530988	T	C	18	58863756	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.17237039328114E-4	0.022
18	56530988	T	G	18	58863756	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.17237039328114E-4	0.022
18	56530989	G	A	18	58863757	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00223172515695393	0.004
18	56530989	G	C	18	58863757	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00165839143970926	0.004
18	56530989	G	T	18	58863757	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00223172515695393	0.004
18	56530990	T	A	18	58863758	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.51173412297419E-5	0.0
18	56530990	T	C	18	58863758	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.21488479013301E-4	0.0
18	56530990	T	G	18	58863758	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.21488479013301E-4	0.0
18	56531465	A	C	18	58864233	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.41036740142694E-4	0.002
18	56531465	A	G	18	58864233	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.41036740142694E-4	0.002
18	56531465	A	T	18	58864233	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.46039206459424E-4	0.0
18	56531466	A	C	18	58864234	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.47111374682203E-4	0.0
18	56531466	A	G	18	58864234	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.41036740142694E-4	0.0
18	56531466	A	T	18	58864234	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.46039206459424E-4	0.0
18	56531467	G	A	18	58864235	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.98553875911078E-4	0.002
18	56531467	G	C	18	58864235	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	7.14713062984084E-4	0.002
18	56531467	G	T	18	58864235	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	7.14713062984084E-4	0.002
18	56531468	G	A	18	58864236	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	3.98553875911078E-4	0.002
18	56531468	G	C	18	58864236	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	7.14713062984084E-4	0.002
18	56531468	G	T	18	58864236	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	7.14713062984084E-4	0.002
18	56531469	T	A	18	58864237	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	2.95853904142978E-5	0.002
18	56531469	T	C	18	58864237	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	2.95853904142978E-5	0.004
18	56531469	T	G	18	58864237	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	2.95853904142978E-5	0.004
18	56531470	T	A	18	58864238	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.39457982047225E-5	0.0
18	56531470	T	C	18	58864238	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.27663100932972E-5	0.0
18	56531470	T	G	18	58864238	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.27663100932972E-5	0.0
18	56531471	G	A	18	58864239	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41036740142694E-4	0.002
18	56531471	G	C	18	58864239	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41036740142694E-4	0.002
18	56531471	G	T	18	58864239	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41036740142694E-4	0.002
18	56531472	G	A	18	58864240	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41036740142694E-4	0.0
18	56531472	G	C	18	58864240	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41036740142694E-4	0.002
18	56531472	G	T	18	58864240	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41036740142694E-4	0.002
18	56531473	A	C	18	58864241	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.2441885610298E-4	0.002
18	56531473	A	G	18	58864241	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.2441885610298E-4	0.002
18	56531473	A	T	18	58864241	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.2441885610298E-4	0.002
18	56531474	G	A	18	58864242	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00106210000323382	0.002
18	56531474	G	C	18	58864242	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.39198392998862E-4	0.002
18	56531474	G	T	18	58864242	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.39198392998862E-4	0.002
18	56531475	G	A	18	58864243	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.98553875911078E-4	0.002
18	56531475	G	C	18	58864243	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.14713062984084E-4	0.002
18	56531475	G	T	18	58864243	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.14713062984084E-4	0.002
18	56531759	G	A	18	58864527	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.44013842554134E-5	0.084
18	56531759	G	C	18	58864527	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.44013842554134E-5	0.084
18	56531759	G	T	18	58864527	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.44013842554134E-5	0.084
18	56531760	A	C	18	58864528	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.80592361331189E-4	0.042
18	56531760	A	G	18	58864528	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.80592361331189E-4	0.042
18	56531760	A	T	18	58864528	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00114003520415818	0.044
18	56531761	G	A	18	58864529	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.13792578710815E-4	0.03
18	56531761	G	C	18	58864529	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.13792578710815E-4	0.03
18	56531761	G	T	18	58864529	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.13792578710815E-4	0.03
18	56531762	G	A	18	58864530	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	3.83322944881016E-5	0.104
18	56531762	G	C	18	58864530	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	3.83322944881016E-5	0.104
18	56531762	G	T	18	58864530	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	3.83322944881016E-5	0.104
18	56531763	T	A	18	58864531	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00123000181019006	0.048
18	56531763	T	C	18	58864531	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00123000181019006	0.03
18	56531763	T	G	18	58864531	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00123000181019006	0.03
18	56531764	A	C	18	58864532	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00123000181019006	0.03
18	56531764	A	G	18	58864532	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00123000181019006	0.03
18	56531764	A	T	18	58864532	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00123000181019006	0.068
18	56531765	A	C	18	58864533	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00123000181019006	0.034
18	56531765	A	G	18	58864533	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00123000181019006	0.034
18	56531765	A	T	18	58864533	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00123000181019006	0.128
18	56531766	G	A	18	58864534	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00132111254032692	0.042
18	56531766	G	C	18	58864534	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.56985590154249E-4	0.04
18	56531766	G	T	18	58864534	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.56985590154249E-4	0.042
18	56531767	T	A	18	58864535	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.20091473896167E-4	0.026
18	56531767	T	C	18	58864535	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00123000181019006	0.048
18	56531767	T	G	18	58864535	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00123000181019006	0.048
18	56531768	G	A	18	58864536	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.13792578710815E-4	0.03
18	56531768	G	C	18	58864536	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.13792578710815E-4	0.03
18	56531768	G	T	18	58864536	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.13792578710815E-4	0.03
18	56531769	G	A	18	58864537	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.76913188659321E-5	0.088
18	56531769	G	C	18	58864537	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.76913188659321E-5	0.088
18	56531769	G	T	18	58864537	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.76913188659321E-5	0.088
18	56532216	C	A	18	58864984	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00105366338095032	0.004
18	56532216	C	G	18	58864984	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00106472840520139	0.0
18	56532216	C	T	18	58864984	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0010742746733858	0.0
18	56532217	T	A	18	58864985	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00159463682682201	0.012
18	56532217	T	C	18	58864985	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00126460689539883	0.01
18	56532217	T	G	18	58864985	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00126460689539883	0.01
18	56532218	G	A	18	58864986	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00304863934114629	0.022
18	56532218	G	C	18	58864986	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00206215964332001	0.022
18	56532218	G	T	18	58864986	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00206215964332001	0.044
18	56532219	G	A	18	58864987	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00572874211209138	0.028
18	56532219	G	C	18	58864987	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00572874211209138	0.022
18	56532219	G	T	18	58864987	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00572874211209138	0.024
18	56532220	T	A	18	58864988	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00430955476585136	0.044
18	56532220	T	C	18	58864988	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00430955476585136	0.04
18	56532220	T	G	18	58864988	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.00430955476585136	0.048
18	56532221	A	C	18	58864989	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00126460689539883	0.014
18	56532221	A	G	18	58864989	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00126460689539883	0.014
18	56532221	A	T	18	58864989	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00159463682682201	0.014
18	56532222	C	A	18	58864990	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.07014656885049E-4	0.002
18	56532222	C	G	18	58864990	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.9920955617261E-4	0.002
18	56532222	C	T	18	58864990	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.3957358345244E-4	0.004
18	56532223	G	A	18	58864991	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00572874211209138	0.028
18	56532223	G	C	18	58864991	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00572874211209138	0.02
18	56532223	G	T	18	58864991	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00572874211209138	0.026
18	56532224	T	A	18	58864992	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00159463682682201	0.014
18	56532224	T	C	18	58864992	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00126460689539883	0.016
18	56532224	T	G	18	58864992	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00159463682682201	0.016
18	56532225	G	A	18	58864993	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00561933144286059	0.024
18	56532225	G	C	18	58864993	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00380420047575444	0.018
18	56532225	G	T	18	58864993	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00561933144286059	0.016
18	56532226	A	C	18	58864994	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00294682849973155	0.018
18	56532226	A	G	18	58864994	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00294682849973155	0.018
18	56532226	A	T	18	58864994	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00294682849973155	0.026
18	56532524	T	A	18	58865292	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.33973092260548E-4	0.076
18	56532524	T	C	18	58865292	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.51824770166978E-4	0.008
18	56532524	T	G	18	58865292	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.35975590081102E-4	0.062
18	56532525	T	A	18	58865293	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	6.17841918387002E-4	0.088
18	56532525	T	C	18	58865293	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.69414047798243E-4	0.008
18	56532525	T	G	18	58865293	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00101957486301091	0.108
18	56532526	T	A	18	58865294	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0529085207857587	0.418
18	56532526	T	C	18	58865294	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.013625462738183	0.272
18	56532526	T	G	18	58865294	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0328186665074231	0.334
18	56532527	C	A	18	58865295	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0370792583038382	0.234
18	56532527	C	G	18	58865295	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0310618791994534	0.162
18	56532527	C	T	18	58865295	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0276077080125024	0.172
18	56532528	T	A	18	58865296	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00118758153451283	0.088
18	56532528	T	C	18	58865296	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	6.18717046658915E-4	0.04
18	56532528	T	G	18	58865296	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00214100957261382	0.094
18	56532529	C	A	18	58865297	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.81505326208602E-4	0.066
18	56532529	C	G	18	58865297	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.51891332000857E-4	0.062
18	56532529	C	T	18	58865297	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.98094000361811E-4	0.0
18	56532530	T	A	18	58865298	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0053757012774266	0.198
18	56532530	T	C	18	58865298	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00130011975080202	0.034
18	56532530	T	G	18	58865298	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00443540612657761	0.226
18	56532531	T	A	18	58865299	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.992732963142436	0.832
18	56532531	T	C	18	58865299	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.02625153090016E-5	0.004
18	56532531	T	G	18	58865299	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	4.01946570055404E-4	0.126
18	56532532	G	A	18	58865300	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	6.69950216973382E-5	0.0
18	56532532	G	C	18	58865300	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.83696004453409E-5	0.0
18	56532532	G	T	18	58865300	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.31733714878342E-5	0.0
18	56532533	C	A	18	58865301	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.566996467995117	0.514
18	56532533	C	G	18	58865301	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.999455707199668	0.824
18	56532533	C	T	18	58865301	y	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0583344120354889	0.362
18	56532534	A	C	18	58865302	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999984274955786	0.872
18	56532534	A	G	18	58865302	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999984274955786	0.886
18	56532534	A	T	18	58865302	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999988510283643	0.934
18	56532535	G	A	18	58865303	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.99994568797423	0.946
18	56532535	G	C	18	58865303	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999946188727699	0.946
18	56532535	G	T	18	58865303	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.99994568797423	0.946
18	56532536	G	A	18	58865304	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0250791922270956	0.438
18	56532536	G	C	18	58865304	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0321498344583546	0.434
18	56532536	G	T	18	58865304	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.443482629289389	0.486
18	56532537	G	A	18	58865305	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.37736553204051E-5	0.0
18	56532537	G	C	18	58865305	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	1.52276608712576E-5	0.002
18	56532537	G	T	18	58865305	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	7.25635395667437E-6	0.0
18	56532615	A	C	18	58865383	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00142766110659069	0.002
18	56532615	A	G	18	58865383	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	8.30006022068885E-4	0.01
18	56532615	A	T	18	58865383	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0508098918618216	0.402
18	56532616	A	C	18	58865384	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.932922704932063	0.662
18	56532616	A	G	18	58865384	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.990221851407419	0.73
18	56532616	A	T	18	58865384	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.989610564172526	0.712
18	56532617	G	A	18	58865385	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.999980151215159	0.992
18	56532617	G	C	18	58865385	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.999987363043664	0.976
18	56532617	G	T	18	58865385	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.999883880444875	0.9
18	56532618	G	A	18	58865386	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999964896440643	0.938
18	56532618	G	C	18	58865386	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999964896440643	0.936
18	56532618	G	T	18	58865386	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999964896440643	0.938
18	56532619	T	A	18	58865387	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.9999784785434	0.938
18	56532619	T	C	18	58865387	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.986285691004685	0.57
18	56532619	T	G	18	58865387	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999988510283643	0.934
18	56532620	A	C	18	58865388	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999845513390635	0.924
18	56532620	A	G	18	58865388	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.997443479936942	0.824
18	56532620	A	T	18	58865388	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999833400291537	0.922
18	56532621	A	C	18	58865389	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.84978135678517	0.512
18	56532621	A	G	18	58865389	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.918791709371092	0.59
18	56532621	A	T	18	58865389	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.93227904168292	0.566
18	56532622	C	A	18	58865390	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00303695695731196	0.062
18	56532622	C	G	18	58865390	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.71944364106876E-4	0.056
18	56532622	C	T	18	58865390	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00364841100784071	0.062
18	56532623	A	C	18	58865391	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.012293871395587	0.142
18	56532623	A	G	18	58865391	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00239813244164415	0.02
18	56532623	A	T	18	58865391	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00190503566174934	0.014
18	56532624	A	C	18	58865392	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.48078102164051E-5	0.0
18	56532624	A	G	18	58865392	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.01799146926962E-4	0.0
18	56532624	A	T	18	58865392	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.29029013229969E-5	0.0
18	56532625	T	A	18	58865393	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.95773968240316E-4	0.0
18	56532625	T	C	18	58865393	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.86604529775267E-4	0.0
18	56532625	T	G	18	58865393	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.12241411454956E-4	0.0
18	56532690	T	A	18	58865458	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.380108259464862	0.442
18	56532690	T	C	18	58865458	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.169006635064442	0.338
18	56532690	T	G	18	58865458	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.324049057800143	0.404
18	56532691	T	A	18	58865459	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.394009697805797	0.504
18	56532691	T	C	18	58865459	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.158353880468086	0.286
18	56532691	T	G	18	58865459	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.351096433997483	0.386
18	56532692	T	A	18	58865460	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.296447354045412	0.48
18	56532692	T	C	18	58865460	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.123628024133356	0.34
18	56532692	T	G	18	58865460	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.1491715026882	0.444
18	56532693	T	A	18	58865461	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00470584641320953	0.152
18	56532693	T	C	18	58865461	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.001975754397023	0.062
18	56532693	T	G	18	58865461	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0032168472533999	0.136
18	56532694	C	A	18	58865462	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0118631422254676	0.196
18	56532694	C	G	18	58865462	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0118631422254676	0.212
18	56532694	C	T	18	58865462	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00177337859303156	0.034
18	56532695	C	A	18	58865463	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00142592458120819	0.06
18	56532695	C	G	18	58865463	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00181702058551913	0.044
18	56532695	C	T	18	58865463	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.66234478107554E-4	0.058
18	56532696	T	A	18	58865464	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00821486212614008	0.164
18	56532696	T	C	18	58865464	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00189210579615782	0.026
18	56532696	T	G	18	58865464	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00795712930637683	0.222
18	56532697	T	A	18	58865465	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.969542439572731	0.742
18	56532697	T	C	18	58865465	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.31749105682758E-4	0.018
18	56532697	T	G	18	58865465	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.28059336435046E-4	0.204
18	56532698	G	A	18	58865466	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00720842856246748	0.034
18	56532698	G	C	18	58865466	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00405137161582599	0.02
18	56532698	G	T	18	58865466	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00720842856246748	0.028
18	56532699	T	A	18	58865467	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.127024750598578	0.232
18	56532699	T	C	18	58865467	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00168466940274937	0.012
18	56532699	T	G	18	58865467	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.998458293244304	0.666
18	56532700	A	C	18	58865468	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.99994568797423	0.926
18	56532700	A	G	18	58865468	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.99994568797423	0.926
18	56532700	A	T	18	58865468	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999978952611685	0.924
18	56532701	G	A	18	58865469	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999976137096505	0.928
18	56532701	G	C	18	58865469	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999938422912956	0.922
18	56532701	G	T	18	58865469	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999938422912956	0.928
18	56532702	G	A	18	58865470	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.246128968496663	0.478
18	56532702	G	C	18	58865470	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.343372660651922	0.518
18	56532702	G	T	18	58865470	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.742763220974224	0.49
18	56532703	C	A	18	58865471	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0118721215473808	0.068
18	56532703	C	G	18	58865471	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00598372909442027	0.046
18	56532703	C	T	18	58865471	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.00668627514285687	0.054
18	56532809	A	C	18	58865577	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.56070029855496E-4	0.01
18	56532809	A	G	18	58865577	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	5.77618337710181E-4	0.012
18	56532809	A	T	18	58865577	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.0560688765591873	0.278
18	56532810	A	C	18	58865578	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.396367560867012	0.624
18	56532810	A	G	18	58865578	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.714632982845402	0.658
18	56532810	A	T	18	58865578	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.87115608683117	0.776
18	56532811	G	A	18	58865579	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.999606541955716	0.982
18	56532811	G	C	18	58865579	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.999970238734533	0.878
18	56532811	G	T	18	58865579	y	y	UTR5	ZNF532	.	.	UTR5	ENSG00000074657	.	.	0.999301769680832	0.958
18	56532812	G	A	18	58865580	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999976137096505	0.934
18	56532812	G	C	18	58865580	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999966737406901	0.928
18	56532812	G	T	18	58865580	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999976137096505	0.928
18	56532813	T	A	18	58865581	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999978952611685	0.926
18	56532813	T	C	18	58865581	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999848151272759	0.848
18	56532813	T	G	18	58865581	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657	.	.	0.999978952611685	0.924
18	56532814	G	A	18	58865582	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00148729809407189	0.056
18	56532814	G	C	18	58865582	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.971273325620136	0.602
18	56532814	G	T	18	58865582	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.960895982194594	0.586
18	56532815	A	C	18	58865583	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.884140698008403	0.602
18	56532815	A	G	18	58865583	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.96430245315467	0.668
18	56532815	A	T	18	58865583	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.986150366346041	0.636
18	56532816	G	A	18	58865584	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999280519511455	0.896
18	56532816	G	C	18	58865584	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999011397670818	0.842
18	56532816	G	T	18	58865584	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99851872037469	0.904
18	56532817	A	C	18	58865585	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0106170642053993	0.11
18	56532817	A	G	18	58865585	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00235368994757066	0.018
18	56532817	A	T	18	58865585	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00183594303770274	0.022
18	56532818	T	A	18	58865586	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.1259261570825E-6	0.004
18	56532818	T	C	18	58865586	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.53081376836033E-6	0.004
18	56532818	T	G	18	58865586	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.53081376836033E-6	0.0
18	56532819	A	C	18	58865587	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.00265667476694E-5	0.002
18	56532819	A	G	18	58865587	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.1359604291263E-5	0.002
18	56532819	A	T	18	58865587	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.56482174029251E-5	0.002
18	56563645	T	A	18	58896413	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.23481599293639E-4	0.004
18	56563645	T	C	18	58896413	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.45494533938285E-4	0.004
18	56563645	T	G	18	58896413	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.45494533938285E-4	0.004
18	56563646	G	A	18	58896414	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.44963993053319E-4	0.0
18	56563646	G	C	18	58896414	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.45387536832266E-4	0.002
18	56563646	G	T	18	58896414	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.69844050747639E-4	0.0
18	56563647	C	A	18	58896415	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.81229027050377E-4	0.002
18	56563647	C	G	18	58896415	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.81229027050377E-4	0.004
18	56563647	C	T	18	58896415	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.92337009422116E-4	0.0
18	56563648	C	A	18	58896416	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00116674076377048	0.014
18	56563648	C	G	18	58896416	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00116674076377048	0.016
18	56563648	C	T	18	58896416	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00116674076377048	0.014
18	56563649	T	A	18	58896417	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.51355887585099E-4	0.046
18	56563649	T	C	18	58896417	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.51355887585099E-4	0.008
18	56563649	T	G	18	58896417	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.51355887585099E-4	0.008
18	56563650	A	C	18	58896418	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.21649339220785E-5	0.0
18	56563650	A	G	18	58896418	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.21649339220785E-5	0.0
18	56563650	A	T	18	58896418	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.21649339220785E-5	0.0
18	56563651	T	A	18	58896419	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.00832436904377E-5	0.002
18	56563651	T	C	18	58896419	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.00832436904377E-5	0.002
18	56563651	T	G	18	58896419	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.00832436904377E-5	0.002
18	56563652	T	A	18	58896420	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.77536005455013E-4	0.026
18	56563652	T	C	18	58896420	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.77798218238944E-4	0.01
18	56563652	T	G	18	58896420	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.77798218238944E-4	0.008
18	56563653	C	A	18	58896421	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.951189346585E-5	0.0
18	56563653	C	G	18	58896421	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.951189346585E-5	0.0
18	56563653	C	T	18	58896421	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.951189346585E-5	0.0
18	56563654	T	A	18	58896422	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.65823046292135E-5	0.002
18	56563654	T	C	18	58896422	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.65823046292135E-5	0.002
18	56563654	T	G	18	58896422	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.65823046292135E-5	0.002
18	56563655	A	C	18	58896423	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	7.5480235718294E-5	0.006
18	56563655	A	G	18	58896423	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	7.5480235718294E-5	0.006
18	56563655	A	T	18	58896423	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	7.5480235718294E-5	0.006
18	56563656	G	A	18	58896424	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	2.9188670368541E-4	0.008
18	56563656	G	C	18	58896424	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	1.4076558401562E-4	0.008
18	56563656	G	T	18	58896424	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657	.	.	2.9188670368541E-4	0.008
18	56563657	G	A	18	58896425	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.951189346585E-5	0.0
18	56563657	G	C	18	58896425	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	2.12967705479703E-5	0.0
18	56563657	G	T	18	58896425	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.951189346585E-5	0.0
18	56563658	C	A	18	58896426	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.76020749564062E-5	0.0
18	56563658	C	G	18	58896426	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.76020749564062E-5	0.0
18	56563658	C	T	18	58896426	n	y	intronic	ZNF532	.	.	UTR5	ENSG00000074657	.	.	3.76020749564062E-5	0.0
18	56563852	A	C	18	58896620	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon2:c.A68C:p.Q23P;	3.07620641825897E-5	0.0
18	56563852	A	G	18	58896620	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon2:c.A68G:p.Q23R;	3.07620641825897E-5	0.0
18	56563852	A	T	18	58896620	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon2:c.A68T:p.Q23L;	3.07620641825897E-5	0.0
18	56563853	A	C	18	58896621	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon2:c.A69C:p.Q23H;	1.48367148474546E-5	0.004
18	56563853	A	G	18	58896621	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000587755:exon2:c.A69G:p.Q23Q;	1.48367148474546E-5	0.002
18	56563853	A	T	18	58896621	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon2:c.A69T:p.Q23H;	6.4243997895107E-5	0.006
18	56563854	G	A	18	58896622	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon2:c.G70A:p.E24K;	1.48519371611462E-5	0.0
18	56563854	G	C	18	58896622	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon2:c.G70C:p.E24Q;	1.48519371611462E-5	0.0
18	56563854	G	T	18	58896622	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000587755:exon2:c.G70T:p.E24X;	1.48519371611462E-5	0.0
18	56563855	G	A	18	58896623	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon2:c.70+1G>A)	.	.	1.96638438091922E-5	0.0
18	56563855	G	C	18	58896623	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon2:c.70+1G>C)	.	.	1.96638438091922E-5	0.0
18	56563855	G	T	18	58896623	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon2:c.70+1G>T)	.	.	1.96638438091922E-5	0.0
18	56563856	T	A	18	58896624	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon2:c.70+2T>A)	.	.	6.4243997895107E-5	0.008
18	56563856	T	C	18	58896624	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon2:c.70+2T>C)	.	.	6.4243997895107E-5	0.008
18	56563856	T	G	18	58896624	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon2:c.70+2T>G)	.	.	6.4243997895107E-5	0.006
18	56563857	A	C	18	58896625	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.78864525412067E-5	0.0
18	56563857	A	G	18	58896625	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.78864525412067E-5	0.0
18	56563857	A	T	18	58896625	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.78864525412067E-5	0.0
18	56563858	T	A	18	58896626	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.78205327723092E-5	0.004
18	56563858	T	C	18	58896626	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.78205327723092E-5	0.006
18	56563858	T	G	18	58896626	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.78205327723092E-5	0.004
18	56563859	A	C	18	58896627	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.52173701430229E-5	0.008
18	56563859	A	G	18	58896627	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.09082759739449E-5	0.008
18	56563859	A	T	18	58896627	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.52173701430229E-5	0.008
18	56563860	A	C	18	58896628	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.31929338280547E-5	0.004
18	56563860	A	G	18	58896628	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.31929338280547E-5	0.004
18	56563860	A	T	18	58896628	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.89925739660516E-5	0.004
18	56563861	C	A	18	58896629	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.20862408805592E-5	0.032
18	56563861	C	G	18	58896629	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.81602517199445E-5	0.03
18	56563861	C	T	18	58896629	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.20862408805592E-5	0.032
18	56563862	A	C	18	58896630	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.42544334184685E-5	0.008
18	56563862	A	G	18	58896630	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.42544334184685E-5	0.008
18	56563862	A	T	18	58896630	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.5529151830241E-5	0.0
18	56585491	C	A	18	58918259	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00211731017104077	0.046
18	56585491	C	G	18	58918259	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00108116541948919	0.09
18	56585491	C	T	18	58918259	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.92112335455822E-5	0.002
18	56585492	T	A	18	58918260	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.950095586004194	0.862
18	56585492	T	C	18	58918260	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0435679358058078	0.348
18	56585492	T	G	18	58918260	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.66902914236089	0.758
18	56585493	C	A	18	58918261	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00229057036540004	0.032
18	56585493	C	G	18	58918261	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00949090828837787	0.13
18	56585493	C	T	18	58918261	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.2912065422758E-4	0.0
18	56585494	A	C	18	58918262	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.20561911767088E-5	0.008
18	56585494	A	G	18	58918262	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.63833641260214E-5	0.0
18	56585494	A	T	18	58918262	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.20561911767088E-5	0.004
18	56585495	T	A	18	58918263	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0159435185949568	0.218
18	56585495	T	C	18	58918263	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.70546205976681E-4	0.01
18	56585495	T	G	18	58918263	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999931948449016	0.982
18	56585496	T	A	18	58918264	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.309552377314825	0.378
18	56585496	T	C	18	58918264	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.22968657602105E-4	0.076
18	56585496	T	G	18	58918264	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0794353758853747	0.292
18	56585497	T	A	18	58918265	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0235510937095269	0.404
18	56585497	T	C	18	58918265	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.57436762343442E-4	0.112
18	56585497	T	G	18	58918265	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0634303214410095	0.418
18	56585498	A	C	18	58918266	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.84731199597454E-5	0.0
18	56585498	A	G	18	58918266	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00202773787869814	0.036
18	56585498	A	T	18	58918266	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.34925606941407E-5	0.018
18	56585499	A	C	18	58918267	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00528154692485375	0.058
18	56585499	A	G	18	58918267	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.988179157074534	0.762
18	56585499	A	T	18	58918267	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0106872987465711	0.116
18	56585500	C	A	18	58918268	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.995227125674538	0.836
18	56585500	C	G	18	58918268	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999764385648639	0.93
18	56585500	C	T	18	58918268	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0295407168763627	0.124
18	56585501	A	C	18	58918269	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon3:c.71-2A>C)	.	.	0.999989917668626	0.94
18	56585501	A	G	18	58918269	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon3:c.71-2A>G)	.	.	0.999989917668626	0.94
18	56585501	A	T	18	58918269	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon3:c.71-2A>T)	.	.	0.999989917668626	0.938
18	56585502	G	A	18	58918270	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon3:c.71-1G>A)	.	.	0.999986675681007	0.944
18	56585502	G	C	18	58918270	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon3:c.71-1G>C)	.	.	0.999986675681007	0.944
18	56585502	G	T	18	58918270	y	y	splicing	ZNF532	.	.	splicing	ENSG00000074657(ENST00000587755:exon3:c.71-1G>T)	.	.	0.999986675681007	0.944
18	56585503	A	C	18	58918271	y	y	UTR5	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon3:c.A71C:p.E24A;	0.0029722996522563	0.202
18	56585503	A	G	18	58918271	y	y	UTR5	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon3:c.A71G:p.E24G;	7.93673346568881E-5	0.006
18	56585503	A	T	18	58918271	y	y	UTR5	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon3:c.A71T:p.E24V;	0.00681927203031535	0.226
18	56585504	A	C	18	58918272	y	y	UTR5	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon3:c.A72C:p.E24D;	2.83463446627274E-4	0.016
18	56585504	A	G	18	58918272	y	y	UTR5	ZNF532	.	.	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000587755:exon3:c.A72G:p.E24E;	3.15428284605958E-4	0.014
18	56585504	A	T	18	58918272	y	y	UTR5	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000587755:exon3:c.A72T:p.E24D;	2.76248927110137E-4	0.004
18	56587863	C	A	18	58920631	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon4:c.C2344A:p.Q782K;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon4:c.C2344A:p.Q782K;ENSG00000074657:ENST00000589156:exon1:c.C298A:p.Q100K;ENSG00000074657:ENST00000591083:exon3:c.C2344A:p.Q782K;ENSG00000074657:ENST00000591230:exon4:c.C2344A:p.Q782K;ENSG00000074657:ENST00000591808:exon3:c.C2344A:p.Q782K;ENSG00000074657:ENST00000589288:exon3:c.C2344A:p.Q782K;ENSG00000074657:ENST00000586997:exon1:c.C109A:p.Q37K;	0.149375118955909	.
18	56587863	C	G	18	58920631	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon4:c.C2344G:p.Q782E;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon4:c.C2344G:p.Q782E;ENSG00000074657:ENST00000589156:exon1:c.C298G:p.Q100E;ENSG00000074657:ENST00000591083:exon3:c.C2344G:p.Q782E;ENSG00000074657:ENST00000591230:exon4:c.C2344G:p.Q782E;ENSG00000074657:ENST00000591808:exon3:c.C2344G:p.Q782E;ENSG00000074657:ENST00000589288:exon3:c.C2344G:p.Q782E;ENSG00000074657:ENST00000586997:exon1:c.C109G:p.Q37E;	0.980660322501656	.
18	56587863	C	T	18	58920631	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon4:c.C2344T:p.Q782X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon4:c.C2344T:p.Q782X;ENSG00000074657:ENST00000589156:exon1:c.C298T:p.Q100X;ENSG00000074657:ENST00000591083:exon3:c.C2344T:p.Q782X;ENSG00000074657:ENST00000591230:exon4:c.C2344T:p.Q782X;ENSG00000074657:ENST00000591808:exon3:c.C2344T:p.Q782X;ENSG00000074657:ENST00000589288:exon3:c.C2344T:p.Q782X;ENSG00000074657:ENST00000586997:exon1:c.C109T:p.Q37X;	0.999427259268295	.
18	56587864	A	C	18	58920632	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon4:c.A2345C:p.Q782P;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon4:c.A2345C:p.Q782P;ENSG00000074657:ENST00000589156:exon1:c.A299C:p.Q100P;ENSG00000074657:ENST00000591083:exon3:c.A2345C:p.Q782P;ENSG00000074657:ENST00000591230:exon4:c.A2345C:p.Q782P;ENSG00000074657:ENST00000591808:exon3:c.A2345C:p.Q782P;ENSG00000074657:ENST00000589288:exon3:c.A2345C:p.Q782P;ENSG00000074657:ENST00000586997:exon1:c.A110C:p.Q37P;	0.99977977580152	.
18	56587864	A	G	18	58920632	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon4:c.A2345G:p.Q782R;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon4:c.A2345G:p.Q782R;ENSG00000074657:ENST00000589156:exon1:c.A299G:p.Q100R;ENSG00000074657:ENST00000591083:exon3:c.A2345G:p.Q782R;ENSG00000074657:ENST00000591230:exon4:c.A2345G:p.Q782R;ENSG00000074657:ENST00000591808:exon3:c.A2345G:p.Q782R;ENSG00000074657:ENST00000589288:exon3:c.A2345G:p.Q782R;ENSG00000074657:ENST00000586997:exon1:c.A110G:p.Q37R;	0.968984397257776	.
18	56587864	A	T	18	58920632	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon4:c.A2345T:p.Q782L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon4:c.A2345T:p.Q782L;ENSG00000074657:ENST00000589156:exon1:c.A299T:p.Q100L;ENSG00000074657:ENST00000591083:exon3:c.A2345T:p.Q782L;ENSG00000074657:ENST00000591230:exon4:c.A2345T:p.Q782L;ENSG00000074657:ENST00000591808:exon3:c.A2345T:p.Q782L;ENSG00000074657:ENST00000589288:exon3:c.A2345T:p.Q782L;ENSG00000074657:ENST00000586997:exon1:c.A110T:p.Q37L;	0.999593762964907	.
18	56587865	A	C	18	58920633	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon4:c.A2346C:p.Q782H;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon4:c.A2346C:p.Q782H;ENSG00000074657:ENST00000589156:exon1:c.A300C:p.Q100H;ENSG00000074657:ENST00000591083:exon3:c.A2346C:p.Q782H;ENSG00000074657:ENST00000591230:exon4:c.A2346C:p.Q782H;ENSG00000074657:ENST00000591808:exon3:c.A2346C:p.Q782H;ENSG00000074657:ENST00000589288:exon3:c.A2346C:p.Q782H;ENSG00000074657:ENST00000586997:exon1:c.A111C:p.Q37H;	0.742442596431188	.
18	56587865	A	G	18	58920633	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon4:c.A2346G:p.Q782Q;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon4:c.A2346G:p.Q782Q;ENSG00000074657:ENST00000589156:exon1:c.A300G:p.Q100Q;ENSG00000074657:ENST00000591083:exon3:c.A2346G:p.Q782Q;ENSG00000074657:ENST00000591230:exon4:c.A2346G:p.Q782Q;ENSG00000074657:ENST00000591808:exon3:c.A2346G:p.Q782Q;ENSG00000074657:ENST00000589288:exon3:c.A2346G:p.Q782Q;ENSG00000074657:ENST00000586997:exon1:c.A111G:p.Q37Q;	6.51261261988066E-4	.
18	56587865	A	T	18	58920633	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon4:c.A2346T:p.Q782H;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon4:c.A2346T:p.Q782H;ENSG00000074657:ENST00000589156:exon1:c.A300T:p.Q100H;ENSG00000074657:ENST00000591083:exon3:c.A2346T:p.Q782H;ENSG00000074657:ENST00000591230:exon4:c.A2346T:p.Q782H;ENSG00000074657:ENST00000591808:exon3:c.A2346T:p.Q782H;ENSG00000074657:ENST00000589288:exon3:c.A2346T:p.Q782H;ENSG00000074657:ENST00000586997:exon1:c.A111T:p.Q37H;	0.714916194541228	.
18	56587866	G	A	18	58920634	y	y	splicing	ZNF532(NM_018181:exon4:c.2346+1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon4:c.2346+1G>A;ENST00000591083:exon3:c.2346+1G>A;ENST00000589288:exon3:c.2346+1G>A;ENST00000591230:exon4:c.2346+1G>A;ENST00000591808:exon3:c.2346+1G>A;ENST00000590157:exon1:c.304+1G>A;ENST00000589156:exon1:c.300+1G>A;ENST00000586997:exon1:c.111+1G>A)	.	.	0.99998761664516	.
18	56587866	G	C	18	58920634	y	y	splicing	ZNF532(NM_018181:exon4:c.2346+1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon4:c.2346+1G>C;ENST00000591083:exon3:c.2346+1G>C;ENST00000589288:exon3:c.2346+1G>C;ENST00000591230:exon4:c.2346+1G>C;ENST00000591808:exon3:c.2346+1G>C;ENST00000590157:exon1:c.304+1G>C;ENST00000589156:exon1:c.300+1G>C;ENST00000586997:exon1:c.111+1G>C)	.	.	0.99998761664516	.
18	56587866	G	T	18	58920634	y	y	splicing	ZNF532(NM_018181:exon4:c.2346+1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon4:c.2346+1G>T;ENST00000591083:exon3:c.2346+1G>T;ENST00000589288:exon3:c.2346+1G>T;ENST00000591230:exon4:c.2346+1G>T;ENST00000591808:exon3:c.2346+1G>T;ENST00000590157:exon1:c.304+1G>T;ENST00000589156:exon1:c.300+1G>T;ENST00000586997:exon1:c.111+1G>T)	.	.	0.99998761664516	.
18	56587867	T	A	18	58920635	y	y	splicing	ZNF532(NM_018181:exon4:c.2346+2T>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon4:c.2346+2T>A;ENST00000591083:exon3:c.2346+2T>A;ENST00000589288:exon3:c.2346+2T>A;ENST00000591230:exon4:c.2346+2T>A;ENST00000591808:exon3:c.2346+2T>A;ENST00000590157:exon1:c.304+2T>A;ENST00000589156:exon1:c.300+2T>A;ENST00000586997:exon1:c.111+2T>A)	.	.	0.99994515364607	.
18	56587867	T	C	18	58920635	y	y	splicing	ZNF532(NM_018181:exon4:c.2346+2T>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon4:c.2346+2T>C;ENST00000591083:exon3:c.2346+2T>C;ENST00000589288:exon3:c.2346+2T>C;ENST00000591230:exon4:c.2346+2T>C;ENST00000591808:exon3:c.2346+2T>C;ENST00000590157:exon1:c.304+2T>C;ENST00000589156:exon1:c.300+2T>C;ENST00000586997:exon1:c.111+2T>C)	.	.	0.992281171699893	.
18	56587867	T	G	18	58920635	y	y	splicing	ZNF532(NM_018181:exon4:c.2346+2T>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon4:c.2346+2T>G;ENST00000591083:exon3:c.2346+2T>G;ENST00000589288:exon3:c.2346+2T>G;ENST00000591230:exon4:c.2346+2T>G;ENST00000591808:exon3:c.2346+2T>G;ENST00000590157:exon1:c.304+2T>G;ENST00000589156:exon1:c.300+2T>G;ENST00000586997:exon1:c.111+2T>G)	.	.	0.99994515364607	.
18	56587868	A	C	18	58920636	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999892699498384	.
18	56587868	A	G	18	58920636	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.93846478510682	.
18	56587868	A	T	18	58920636	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999837023904955	.
18	56587869	G	A	18	58920637	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.14913531961874E-4	.
18	56587869	G	C	18	58920637	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.80911904952087E-4	.
18	56587869	G	T	18	58920637	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.03993513431739E-4	.
18	56587870	A	C	18	58920638	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.46540157952764E-4	.
18	56587870	A	G	18	58920638	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.19381253951194E-4	.
18	56587870	A	T	18	58920638	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.52219766273004E-4	.
18	56587871	G	A	18	58920639	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0186703770705448	.
18	56587871	G	C	18	58920639	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0121816746773278	.
18	56587871	G	T	18	58920639	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00328292151029824	.
18	56587872	T	A	18	58920640	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0105197839619628	.
18	56587872	T	C	18	58920640	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0106539336410001	.
18	56587872	T	G	18	58920640	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0106539336410001	.
18	56587873	A	C	18	58920641	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00740669162850362	.
18	56587873	A	G	18	58920641	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00891406447313854	.
18	56587873	A	T	18	58920641	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00740669162850362	.
18	56598866	T	A	18	58931634	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.15941453541388E-5	0.004
18	56598866	T	C	18	58931634	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.15941453541388E-5	0.006
18	56598866	T	G	18	58931634	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.15941453541388E-5	0.006
18	56598867	T	A	18	58931635	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.8042999492716E-5	0.0
18	56598867	T	C	18	58931635	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.8042999492716E-5	0.0
18	56598867	T	G	18	58931635	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.8042999492716E-5	0.0
18	56598868	T	A	18	58931636	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.15941453541388E-5	0.006
18	56598868	T	C	18	58931636	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.89925739660516E-5	0.022
18	56598868	T	G	18	58931636	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.89925739660516E-5	0.102
18	56598869	T	A	18	58931637	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.81984393052081E-4	0.008
18	56598869	T	C	18	58931637	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.81984393052081E-4	0.008
18	56598869	T	G	18	58931637	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.81984393052081E-4	0.008
18	56598870	T	A	18	58931638	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.44782069694124E-5	0.006
18	56598870	T	C	18	58931638	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.44782069694124E-5	0.006
18	56598870	T	G	18	58931638	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.44782069694124E-5	0.006
18	56598871	T	A	18	58931639	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.15941453541388E-5	0.006
18	56598871	T	C	18	58931639	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.89925739660516E-5	0.008
18	56598871	T	G	18	58931639	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.89925739660516E-5	0.008
18	56598872	T	A	18	58931640	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.30338091304305E-5	0.0
18	56598872	T	C	18	58931640	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.30338091304305E-5	0.0
18	56598872	T	G	18	58931640	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.30338091304305E-5	0.0
18	56598873	C	A	18	58931641	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.86431456331734E-5	0.0
18	56598873	C	G	18	58931641	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.86431456331734E-5	0.0
18	56598873	C	T	18	58931641	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.01163773767764E-5	0.0
18	56598874	T	A	18	58931642	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.80109675654916E-5	0.0
18	56598874	T	C	18	58931642	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.08291490468438E-5	0.008
18	56598874	T	G	18	58931642	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.08291490468438E-5	0.008
18	56598875	C	A	18	58931643	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.72760553213487E-5	0.002
18	56598875	C	G	18	58931643	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.72760553213487E-5	0.0
18	56598875	C	T	18	58931643	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.72760553213487E-5	0.008
18	56598876	A	C	18	58931644	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.305-2A>C;ENST00000589156:exon2:c.301-2A>C)	.	.	3.01176540855395E-5	0.006
18	56598876	A	G	18	58931644	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.305-2A>G;ENST00000589156:exon2:c.301-2A>G)	.	.	1.44571914076258E-5	0.004
18	56598876	A	T	18	58931644	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.305-2A>T;ENST00000589156:exon2:c.301-2A>T)	.	.	6.26007143607885E-5	0.006
18	56598877	G	A	18	58931645	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.305-1G>A;ENST00000589156:exon2:c.301-1G>A)	.	.	4.08802802279601E-5	0.002
18	56598877	G	C	18	58931645	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.305-1G>C;ENST00000589156:exon2:c.301-1G>C)	.	.	3.78864525412067E-5	0.002
18	56598877	G	T	18	58931645	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.305-1G>T;ENST00000589156:exon2:c.301-1G>T)	.	.	4.08802802279601E-5	0.002
18	56598878	A	C	18	58931646	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000589156:exon2:c.A301C:p.N101H;	5.97728621093963E-5	0.0
18	56598878	A	G	18	58931646	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000589156:exon2:c.A301G:p.N101D;	5.97728621093963E-5	0.0
18	56598878	A	T	18	58931646	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000589156:exon2:c.A301T:p.N101Y;	6.59706358747764E-5	0.0
18	56598879	A	C	18	58931647	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000589156:exon2:c.A302C:p.N101T;	5.97728621093963E-5	0.0
18	56598879	A	G	18	58931647	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000589156:exon2:c.A302G:p.N101S;	3.2886448328189E-5	0.0
18	56598879	A	T	18	58931647	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000589156:exon2:c.A302T:p.N101I;	5.97728621093963E-5	0.0
18	56598985	A	C	18	58931753	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.99153316237132E-5	0.0
18	56598985	A	G	18	58931753	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.99153316237132E-5	0.0
18	56598985	A	T	18	58931753	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	3.07620641825897E-5	0.0
18	56598986	T	A	18	58931754	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	9.57123356397867E-5	0.016
18	56598986	T	C	18	58931754	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	9.57123356397867E-5	0.012
18	56598986	T	G	18	58931754	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	9.57123356397867E-5	0.012
18	56598987	G	A	18	58931755	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.46004206284423E-5	0.0
18	56598987	G	C	18	58931755	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.46004206284423E-5	0.0
18	56598987	G	T	18	58931755	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.46004206284423E-5	0.0
18	56598988	G	A	18	58931756	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.414+1G>A;ENST00000589156:exon2:c.410+1G>A)	.	.	9.57123356397867E-5	0.018
18	56598988	G	C	18	58931756	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.414+1G>C;ENST00000589156:exon2:c.410+1G>C)	.	.	9.57123356397867E-5	0.018
18	56598988	G	T	18	58931756	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.414+1G>T;ENST00000589156:exon2:c.410+1G>T)	.	.	9.57123356397867E-5	0.018
18	56598989	T	A	18	58931757	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.414+2T>A;ENST00000589156:exon2:c.410+2T>A)	.	.	1.58927937202005E-5	0.002
18	56598989	T	C	18	58931757	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.414+2T>C;ENST00000589156:exon2:c.410+2T>C)	.	.	1.58927937202005E-5	0.002
18	56598989	T	G	18	58931757	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000590157:exon2:c.414+2T>G;ENST00000589156:exon2:c.410+2T>G)	.	.	1.58927937202005E-5	0.002
18	56598990	G	A	18	58931758	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.37501361942679E-5	0.004
18	56598990	G	C	18	58931758	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.90177193295887E-6	0.004
18	56598990	G	T	18	58931758	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.90177193295887E-6	0.002
18	56598991	A	C	18	58931759	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.58927937202005E-5	0.002
18	56598991	A	G	18	58931759	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.58927937202005E-5	0.002
18	56598991	A	T	18	58931759	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.58927937202005E-5	0.002
18	56598992	G	A	18	58931760	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.37501361942679E-5	0.002
18	56598992	G	C	18	58931760	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.90177193295887E-6	0.01
18	56598992	G	T	18	58931760	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.90177193295887E-6	0.002
18	56598993	A	C	18	58931761	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.57123356397867E-5	0.012
18	56598993	A	G	18	58931761	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.57123356397867E-5	0.012
18	56598993	A	T	18	58931761	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.99373255183416E-4	0.018
18	56598994	C	A	18	58931762	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.57123356397867E-5	0.018
18	56598994	C	G	18	58931762	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.57123356397867E-5	0.032
18	56598994	C	T	18	58931762	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.57123356397867E-5	0.018
18	56598995	C	A	18	58931763	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.0288925866825E-5	0.014
18	56598995	C	G	18	58931763	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.0288925866825E-5	0.002
18	56598995	C	T	18	58931763	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.58927937202005E-5	0.002
18	56599607	A	C	18	58932375	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.14301101535901E-5	0.004
18	56599607	A	G	18	58932375	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.14301101535901E-5	0.004
18	56599607	A	T	18	58932375	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.14301101535901E-5	0.002
18	56599608	A	C	18	58932376	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.20590404879984E-5	0.004
18	56599608	A	G	18	58932376	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.20590404879984E-5	0.004
18	56599608	A	T	18	58932376	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.20590404879984E-5	0.004
18	56599609	T	A	18	58932377	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.78864525412067E-5	0.0
18	56599609	T	C	18	58932377	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.45277156108894E-5	0.0
18	56599609	T	G	18	58932377	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.45277156108894E-5	0.0
18	56599610	T	A	18	58932378	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.8042999492716E-5	0.004
18	56599610	T	C	18	58932378	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.8042999492716E-5	0.004
18	56599610	T	G	18	58932378	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.8042999492716E-5	0.004
18	56599611	T	A	18	58932379	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.4076558401562E-4	0.012
18	56599611	T	C	18	58932379	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.4076558401562E-4	0.012
18	56599611	T	G	18	58932379	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.4076558401562E-4	0.012
18	56599612	T	A	18	58932380	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00177780133235394	0.008
18	56599612	T	C	18	58932380	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00222044931597881	0.01
18	56599612	T	G	18	58932380	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00222044931597881	0.01
18	56599613	T	A	18	58932381	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.77536005455013E-4	0.01
18	56599613	T	C	18	58932381	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.77798218238944E-4	0.01
18	56599613	T	G	18	58932381	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.77798218238944E-4	0.01
18	56599614	T	A	18	58932382	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.14959085947539E-4	0.012
18	56599614	T	C	18	58932382	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.77536005455013E-4	0.01
18	56599614	T	G	18	58932382	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.77536005455013E-4	0.01
18	56599615	T	A	18	58932383	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00435466241603455	0.022
18	56599615	T	C	18	58932383	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00294682849973155	0.016
18	56599615	T	G	18	58932383	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00294682849973155	0.016
18	56599616	C	A	18	58932384	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.97552862615456E-6	0.0
18	56599616	C	G	18	58932384	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.97552862615456E-6	0.0
18	56599616	C	T	18	58932384	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.97552862615456E-6	0.0
18	56599617	A	C	18	58932385	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000589156:exon3:c.411-2A>C)	.	.	1.00925306948278E-4	0.004
18	56599617	A	G	18	58932385	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000589156:exon3:c.411-2A>G)	.	.	1.00925306948278E-4	0.004
18	56599617	A	T	18	58932385	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000589156:exon3:c.411-2A>T)	.	.	1.11389651227104E-4	0.004
18	56599618	G	A	18	58932386	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000589156:exon3:c.411-1G>A)	.	.	5.08291490468438E-5	0.008
18	56599618	G	C	18	58932386	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000589156:exon3:c.411-1G>C)	.	.	1.08788427788342E-5	0.0
18	56599618	G	T	18	58932386	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000589156:exon3:c.411-1G>T)	.	.	1.1738525533333E-5	0.002
18	56599619	G	A	18	58932387	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.95241758590049E-5	0.0
18	56599619	G	C	18	58932387	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.95241758590049E-5	0.0
18	56599619	G	T	18	58932387	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.95241758590049E-5	0.0
18	56599620	A	C	18	58932388	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	2.05567792764038E-5	0.014
18	56599620	A	G	18	58932388	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	2.74891647094722E-5	0.064
18	56599620	A	T	18	58932388	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	2.05567792764038E-5	0.002
18	56601653	T	A	18	58934421	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999985095260251	0.976
18	56601653	T	C	18	58934421	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.420994375750415	0.394
18	56601653	T	G	18	58934421	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99923319680715	0.896
18	56601654	G	A	18	58934422	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999964278782539	0.912
18	56601654	G	C	18	58934422	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.943842964461756	0.588
18	56601654	G	T	18	58934422	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.96281242347676	0.518
18	56601655	G	A	18	58934423	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.991409993579305	0.754
18	56601655	G	C	18	58934423	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.951786881544117	0.64
18	56601655	G	T	18	58934423	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.956796078910124	0.608
18	56601656	T	A	18	58934424	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.981370812660455	0.618
18	56601656	T	C	18	58934424	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.004628578710395	0.116
18	56601656	T	G	18	58934424	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.97773895800112	0.67
18	56601657	T	A	18	58934425	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.921355441743284	0.842
18	56601657	T	C	18	58934425	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0026231525985401	0.048
18	56601657	T	G	18	58934425	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.729797864500871	0.524
18	56601658	T	A	18	58934426	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999919982119533	0.972
18	56601658	T	C	18	58934426	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00207512198044987	0.126
18	56601658	T	G	18	58934426	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.887835349051252	0.584
18	56601659	G	A	18	58934427	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.84099368613532E-5	0.004
18	56601659	G	C	18	58934427	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.30144451065567E-5	0.058
18	56601659	G	T	18	58934427	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.54228837736413E-5	0.026
18	56601660	T	A	18	58934428	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.94988044153842	0.654
18	56601660	T	C	18	58934428	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0500883440099868	0.234
18	56601660	T	G	18	58934428	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.960875246244978	0.702
18	56601661	T	A	18	58934429	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.34178889240104E-5	0.002
18	56601661	T	C	18	58934429	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.2772409157664E-5	0.0
18	56601661	T	G	18	58934429	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.39874245362996E-4	0.088
18	56601662	T	A	18	58934430	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.975302591267435	0.748
18	56601662	T	C	18	58934430	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00148891197115831	0.05
18	56601662	T	G	18	58934430	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99943018244228	0.896
18	56601663	A	C	18	58934431	y	y	splicing	ZNF532(NM_018181:exon5:c.2347-2A>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2347-2A>C;ENST00000591083:exon4:c.2347-2A>C;ENST00000589288:exon4:c.2347-2A>C;ENST00000591230:exon5:c.2347-2A>C;ENST00000591808:exon4:c.2347-2A>C;ENST00000590157:exon3:c.415-2A>C)	.	.	0.999988247793601	0.93
18	56601663	A	G	18	58934431	y	y	splicing	ZNF532(NM_018181:exon5:c.2347-2A>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2347-2A>G;ENST00000591083:exon4:c.2347-2A>G;ENST00000589288:exon4:c.2347-2A>G;ENST00000591230:exon5:c.2347-2A>G;ENST00000591808:exon4:c.2347-2A>G;ENST00000590157:exon3:c.415-2A>G)	.	.	0.999988247793601	0.93
18	56601663	A	T	18	58934431	y	y	splicing	ZNF532(NM_018181:exon5:c.2347-2A>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2347-2A>T;ENST00000591083:exon4:c.2347-2A>T;ENST00000589288:exon4:c.2347-2A>T;ENST00000591230:exon5:c.2347-2A>T;ENST00000591808:exon4:c.2347-2A>T;ENST00000590157:exon3:c.415-2A>T)	.	.	0.999988247793601	0.93
18	56601664	G	A	18	58934432	y	y	splicing	ZNF532(NM_018181:exon5:c.2347-1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2347-1G>A;ENST00000591083:exon4:c.2347-1G>A;ENST00000589288:exon4:c.2347-1G>A;ENST00000591230:exon5:c.2347-1G>A;ENST00000591808:exon4:c.2347-1G>A;ENST00000590157:exon3:c.415-1G>A)	.	.	0.999989072007339	0.934
18	56601664	G	C	18	58934432	y	y	splicing	ZNF532(NM_018181:exon5:c.2347-1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2347-1G>C;ENST00000591083:exon4:c.2347-1G>C;ENST00000589288:exon4:c.2347-1G>C;ENST00000591230:exon5:c.2347-1G>C;ENST00000591808:exon4:c.2347-1G>C;ENST00000590157:exon3:c.415-1G>C)	.	.	0.999989072007339	0.934
18	56601664	G	T	18	58934432	y	y	splicing	ZNF532(NM_018181:exon5:c.2347-1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2347-1G>T;ENST00000591083:exon4:c.2347-1G>T;ENST00000589288:exon4:c.2347-1G>T;ENST00000591230:exon5:c.2347-1G>T;ENST00000591808:exon4:c.2347-1G>T;ENST00000590157:exon3:c.415-1G>T)	.	.	0.999989072007339	0.934
18	56601665	A	C	18	58934433	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.A2347C:p.K783Q;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.A2347C:p.K783Q;ENSG00000074657:ENST00000591083:exon4:c.A2347C:p.K783Q;ENSG00000074657:ENST00000591230:exon5:c.A2347C:p.K783Q;ENSG00000074657:ENST00000591808:exon4:c.A2347C:p.K783Q;ENSG00000074657:ENST00000589288:exon4:c.A2347C:p.K783Q;	0.00709610612317745	0.118
18	56601665	A	G	18	58934433	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.A2347G:p.K783E;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.A2347G:p.K783E;ENSG00000074657:ENST00000591083:exon4:c.A2347G:p.K783E;ENSG00000074657:ENST00000591230:exon5:c.A2347G:p.K783E;ENSG00000074657:ENST00000591808:exon4:c.A2347G:p.K783E;ENSG00000074657:ENST00000589288:exon4:c.A2347G:p.K783E;	0.00538445970358637	0.238
18	56601665	A	T	18	58934433	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon5:c.A2347T:p.K783X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon5:c.A2347T:p.K783X;ENSG00000074657:ENST00000591083:exon4:c.A2347T:p.K783X;ENSG00000074657:ENST00000591230:exon5:c.A2347T:p.K783X;ENSG00000074657:ENST00000591808:exon4:c.A2347T:p.K783X;ENSG00000074657:ENST00000589288:exon4:c.A2347T:p.K783X;	0.0311475965500024	0.378
18	56601666	A	C	18	58934434	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.A2348C:p.K783T;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.A2348C:p.K783T;ENSG00000074657:ENST00000591083:exon4:c.A2348C:p.K783T;ENSG00000074657:ENST00000591230:exon5:c.A2348C:p.K783T;ENSG00000074657:ENST00000591808:exon4:c.A2348C:p.K783T;ENSG00000074657:ENST00000589288:exon4:c.A2348C:p.K783T;	0.838158249972794	0.802
18	56601666	A	G	18	58934434	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.A2348G:p.K783R;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.A2348G:p.K783R;ENSG00000074657:ENST00000591083:exon4:c.A2348G:p.K783R;ENSG00000074657:ENST00000591230:exon5:c.A2348G:p.K783R;ENSG00000074657:ENST00000591808:exon4:c.A2348G:p.K783R;ENSG00000074657:ENST00000589288:exon4:c.A2348G:p.K783R;	0.233327333746116	0.464
18	56601666	A	T	18	58934434	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.A2348T:p.K783M;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.A2348T:p.K783M;ENSG00000074657:ENST00000591083:exon4:c.A2348T:p.K783M;ENSG00000074657:ENST00000591230:exon5:c.A2348T:p.K783M;ENSG00000074657:ENST00000591808:exon4:c.A2348T:p.K783M;ENSG00000074657:ENST00000589288:exon4:c.A2348T:p.K783M;	0.801417185300157	0.714
18	56601844	T	A	18	58934612	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.T2526A:p.F842L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.T2526A:p.F842L;ENSG00000074657:ENST00000591083:exon4:c.T2526A:p.F842L;ENSG00000074657:ENST00000591230:exon5:c.T2526A:p.F842L;ENSG00000074657:ENST00000591808:exon4:c.T2526A:p.F842L;ENSG00000074657:ENST00000589288:exon4:c.T2526A:p.F842L;	3.0814315265429E-4	0.294
18	56601844	T	C	18	58934612	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon5:c.T2526C:p.F842F;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.T2526C:p.F842F;ENSG00000074657:ENST00000591083:exon4:c.T2526C:p.F842F;ENSG00000074657:ENST00000591230:exon5:c.T2526C:p.F842F;ENSG00000074657:ENST00000591808:exon4:c.T2526C:p.F842F;ENSG00000074657:ENST00000589288:exon4:c.T2526C:p.F842F;	8.08897366991424E-5	0.0
18	56601844	T	G	18	58934612	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.T2526G:p.F842L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.T2526G:p.F842L;ENSG00000074657:ENST00000591083:exon4:c.T2526G:p.F842L;ENSG00000074657:ENST00000591230:exon5:c.T2526G:p.F842L;ENSG00000074657:ENST00000591808:exon4:c.T2526G:p.F842L;ENSG00000074657:ENST00000589288:exon4:c.T2526G:p.F842L;	5.80867965903884E-4	0.312
18	56601845	C	A	18	58934613	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon5:c.C2527A:p.R843R;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.C2527A:p.R843R;ENSG00000074657:ENST00000591083:exon4:c.C2527A:p.R843R;ENSG00000074657:ENST00000591230:exon5:c.C2527A:p.R843R;ENSG00000074657:ENST00000591808:exon4:c.C2527A:p.R843R;ENSG00000074657:ENST00000589288:exon4:c.C2527A:p.R843R;	0.0319698778066491	0.154
18	56601845	C	G	18	58934613	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.C2527G:p.R843G;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.C2527G:p.R843G;ENSG00000074657:ENST00000591083:exon4:c.C2527G:p.R843G;ENSG00000074657:ENST00000591230:exon5:c.C2527G:p.R843G;ENSG00000074657:ENST00000591808:exon4:c.C2527G:p.R843G;ENSG00000074657:ENST00000589288:exon4:c.C2527G:p.R843G;	0.986346865059988	0.664
18	56601845	C	T	18	58934613	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon5:c.C2527T:p.R843X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon5:c.C2527T:p.R843X;ENSG00000074657:ENST00000591083:exon4:c.C2527T:p.R843X;ENSG00000074657:ENST00000591230:exon5:c.C2527T:p.R843X;ENSG00000074657:ENST00000591808:exon4:c.C2527T:p.R843X;ENSG00000074657:ENST00000589288:exon4:c.C2527T:p.R843X;	0.996411977903775	0.836
18	56601846	G	A	18	58934614	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.G2528A:p.R843Q;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.G2528A:p.R843Q;ENSG00000074657:ENST00000591083:exon4:c.G2528A:p.R843Q;ENSG00000074657:ENST00000591230:exon5:c.G2528A:p.R843Q;ENSG00000074657:ENST00000591808:exon4:c.G2528A:p.R843Q;ENSG00000074657:ENST00000589288:exon4:c.G2528A:p.R843Q;	0.999995334528105	1.0
18	56601846	G	C	18	58934614	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.G2528C:p.R843P;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.G2528C:p.R843P;ENSG00000074657:ENST00000591083:exon4:c.G2528C:p.R843P;ENSG00000074657:ENST00000591230:exon5:c.G2528C:p.R843P;ENSG00000074657:ENST00000591808:exon4:c.G2528C:p.R843P;ENSG00000074657:ENST00000589288:exon4:c.G2528C:p.R843P;	0.999990933555471	0.942
18	56601846	G	T	18	58934614	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon5:c.G2528T:p.R843L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon5:c.G2528T:p.R843L;ENSG00000074657:ENST00000591083:exon4:c.G2528T:p.R843L;ENSG00000074657:ENST00000591230:exon5:c.G2528T:p.R843L;ENSG00000074657:ENST00000591808:exon4:c.G2528T:p.R843L;ENSG00000074657:ENST00000589288:exon4:c.G2528T:p.R843L;	0.999989622619037	0.964
18	56601847	G	A	18	58934615	y	y	splicing	ZNF532(NM_018181:exon5:c.2528+1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2528+1G>A;ENST00000591083:exon4:c.2528+1G>A;ENST00000589288:exon4:c.2528+1G>A;ENST00000591230:exon5:c.2528+1G>A;ENST00000591808:exon4:c.2528+1G>A)	.	.	0.999986675681007	0.932
18	56601847	G	C	18	58934615	y	y	splicing	ZNF532(NM_018181:exon5:c.2528+1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2528+1G>C;ENST00000591083:exon4:c.2528+1G>C;ENST00000589288:exon4:c.2528+1G>C;ENST00000591230:exon5:c.2528+1G>C;ENST00000591808:exon4:c.2528+1G>C)	.	.	0.999986675681007	0.932
18	56601847	G	T	18	58934615	y	y	splicing	ZNF532(NM_018181:exon5:c.2528+1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2528+1G>T;ENST00000591083:exon4:c.2528+1G>T;ENST00000589288:exon4:c.2528+1G>T;ENST00000591230:exon5:c.2528+1G>T;ENST00000591808:exon4:c.2528+1G>T)	.	.	0.999986675681007	0.932
18	56601848	T	A	18	58934616	y	y	splicing	ZNF532(NM_018181:exon5:c.2528+2T>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2528+2T>A;ENST00000591083:exon4:c.2528+2T>A;ENST00000589288:exon4:c.2528+2T>A;ENST00000591230:exon5:c.2528+2T>A;ENST00000591808:exon4:c.2528+2T>A)	.	.	0.999988247793601	0.928
18	56601848	T	C	18	58934616	y	y	splicing	ZNF532(NM_018181:exon5:c.2528+2T>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2528+2T>C;ENST00000591083:exon4:c.2528+2T>C;ENST00000589288:exon4:c.2528+2T>C;ENST00000591230:exon5:c.2528+2T>C;ENST00000591808:exon4:c.2528+2T>C)	.	.	0.999897703382408	0.85
18	56601848	T	G	18	58934616	y	y	splicing	ZNF532(NM_018181:exon5:c.2528+2T>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon5:c.2528+2T>G;ENST00000591083:exon4:c.2528+2T>G;ENST00000589288:exon4:c.2528+2T>G;ENST00000591230:exon5:c.2528+2T>G;ENST00000591808:exon4:c.2528+2T>G)	.	.	0.999988247793601	0.928
18	56601849	C	A	18	58934617	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.53549078006701E-4	0.066
18	56601849	C	G	18	58934617	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.50928130704836E-4	0.072
18	56601849	C	T	18	58934617	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00191146702770183	0.064
18	56601850	A	C	18	58934618	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.992123325705769	0.872
18	56601850	A	G	18	58934618	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.991763803717152	0.848
18	56601850	A	T	18	58934618	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.994668307324061	0.83
18	56601851	G	A	18	58934619	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999903516157477	1.0
18	56601851	G	C	18	58934619	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999908826282419	0.974
18	56601851	G	T	18	58934619	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999964338533138	0.98
18	56601852	T	A	18	58934620	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.998952172874444	0.736
18	56601852	T	C	18	58934620	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99528191628151	0.836
18	56601852	T	G	18	58934620	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99691473620435	0.846
18	56601853	A	C	18	58934621	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0264162636749204	0.102
18	56601853	A	G	18	58934621	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0264853993086172	0.144
18	56601853	A	T	18	58934621	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.456910230554687	0.236
18	56601854	T	A	18	58934622	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.116935967161054	0.208
18	56601854	T	C	18	58934622	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0349631148405911	0.156
18	56601854	T	G	18	58934622	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0200821251369495	0.104
18	56606665	T	A	18	58939433	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.996665077184627	0.826
18	56606665	T	C	18	58939433	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.124278116224316	0.402
18	56606665	T	G	18	58939433	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999920461776895	0.94
18	56606666	T	A	18	58939434	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.994846945600534	0.662
18	56606666	T	C	18	58939434	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00809159498293483	0.28
18	56606666	T	G	18	58939434	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.993630495590392	0.616
18	56606667	T	A	18	58939435	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.855939029444003	0.456
18	56606667	T	C	18	58939435	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.88386862291905E-5	0.05
18	56606667	T	G	18	58939435	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.415488739191977	0.376
18	56606668	T	A	18	58939436	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.610271273610206	0.454
18	56606668	T	C	18	58939436	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.02359042534687E-5	0.068
18	56606668	T	G	18	58939436	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.472610480824942	0.434
18	56606669	T	A	18	58939437	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.105300204635836	0.256
18	56606669	T	C	18	58939437	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.42977951164066E-5	0.006
18	56606669	T	G	18	58939437	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.118803687307313	0.392
18	56606670	C	A	18	58939438	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.956934017069563	0.67
18	56606670	C	G	18	58939438	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.989350923832721	0.694
18	56606670	C	T	18	58939438	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.440173812427219	0.668
18	56606671	T	A	18	58939439	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99710148926503	0.786
18	56606671	T	C	18	58939439	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.120034684077177	0.552
18	56606671	T	G	18	58939439	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.998883684461646	0.886
18	56606672	A	C	18	58939440	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.92571453958041E-5	0.05
18	56606672	A	G	18	58939440	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.53285879120832E-4	0.032
18	56606672	A	T	18	58939440	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.1407524669417E-5	0.034
18	56606673	A	C	18	58939441	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.69118967288932E-4	0.008
18	56606673	A	G	18	58939441	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.637831504786526	0.57
18	56606673	A	T	18	58939441	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.43188653018588E-4	0.044
18	56606674	C	A	18	58939442	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999853097674898	0.934
18	56606674	C	G	18	58939442	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999911607155906	0.958
18	56606674	C	T	18	58939442	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.54203400836754	0.234
18	56606675	A	C	18	58939443	y	y	splicing	ZNF532(NM_018181:exon6:c.2529-2A>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2529-2A>C;ENST00000591083:exon5:c.2529-2A>C;ENST00000589288:exon5:c.2529-2A>C;ENST00000591230:exon6:c.2529-2A>C;ENST00000591808:exon5:c.2529-2A>C)	.	.	0.999988247793601	0.928
18	56606675	A	G	18	58939443	y	y	splicing	ZNF532(NM_018181:exon6:c.2529-2A>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2529-2A>G;ENST00000591083:exon5:c.2529-2A>G;ENST00000589288:exon5:c.2529-2A>G;ENST00000591230:exon6:c.2529-2A>G;ENST00000591808:exon5:c.2529-2A>G)	.	.	0.999988247793601	0.928
18	56606675	A	T	18	58939443	y	y	splicing	ZNF532(NM_018181:exon6:c.2529-2A>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2529-2A>T;ENST00000591083:exon5:c.2529-2A>T;ENST00000589288:exon5:c.2529-2A>T;ENST00000591230:exon6:c.2529-2A>T;ENST00000591808:exon5:c.2529-2A>T)	.	.	0.999988247793601	0.928
18	56606676	G	A	18	58939444	y	y	splicing	ZNF532(NM_018181:exon6:c.2529-1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2529-1G>A;ENST00000591083:exon5:c.2529-1G>A;ENST00000589288:exon5:c.2529-1G>A;ENST00000591230:exon6:c.2529-1G>A;ENST00000591808:exon5:c.2529-1G>A)	.	.	0.999985532734767	0.938
18	56606676	G	C	18	58939444	y	y	splicing	ZNF532(NM_018181:exon6:c.2529-1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2529-1G>C;ENST00000591083:exon5:c.2529-1G>C;ENST00000589288:exon5:c.2529-1G>C;ENST00000591230:exon6:c.2529-1G>C;ENST00000591808:exon5:c.2529-1G>C)	.	.	0.999985532734767	0.938
18	56606676	G	T	18	58939444	y	y	splicing	ZNF532(NM_018181:exon6:c.2529-1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2529-1G>T;ENST00000591083:exon5:c.2529-1G>T;ENST00000589288:exon5:c.2529-1G>T;ENST00000591230:exon6:c.2529-1G>T;ENST00000591808:exon5:c.2529-1G>T)	.	.	0.999985532734767	0.938
18	56606677	A	C	18	58939445	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon6:c.A2529C:p.R843R;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2529C:p.R843R;ENSG00000074657:ENST00000591083:exon5:c.A2529C:p.R843R;ENSG00000074657:ENST00000591230:exon6:c.A2529C:p.R843R;ENSG00000074657:ENST00000591808:exon5:c.A2529C:p.R843R;ENSG00000074657:ENST00000589288:exon5:c.A2529C:p.R843R;	0.00223120280281888	0.06
18	56606677	A	G	18	58939445	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon6:c.A2529G:p.R843R;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2529G:p.R843R;ENSG00000074657:ENST00000591083:exon5:c.A2529G:p.R843R;ENSG00000074657:ENST00000591230:exon6:c.A2529G:p.R843R;ENSG00000074657:ENST00000591808:exon5:c.A2529G:p.R843R;ENSG00000074657:ENST00000589288:exon5:c.A2529G:p.R843R;	1.14731549266376E-4	0.002
18	56606677	A	T	18	58939445	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon6:c.A2529T:p.R843R;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2529T:p.R843R;ENSG00000074657:ENST00000591083:exon5:c.A2529T:p.R843R;ENSG00000074657:ENST00000591230:exon6:c.A2529T:p.R843R;ENSG00000074657:ENST00000591808:exon5:c.A2529T:p.R843R;ENSG00000074657:ENST00000589288:exon5:c.A2529T:p.R843R;	0.00129246962912724	0.028
18	56606678	T	A	18	58939446	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon6:c.T2530A:p.C844S;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.T2530A:p.C844S;ENSG00000074657:ENST00000591083:exon5:c.T2530A:p.C844S;ENSG00000074657:ENST00000591230:exon6:c.T2530A:p.C844S;ENSG00000074657:ENST00000591808:exon5:c.T2530A:p.C844S;ENSG00000074657:ENST00000589288:exon5:c.T2530A:p.C844S;	0.724545740344297	0.586
18	56606678	T	C	18	58939446	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon6:c.T2530C:p.C844R;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.T2530C:p.C844R;ENSG00000074657:ENST00000591083:exon5:c.T2530C:p.C844R;ENSG00000074657:ENST00000591230:exon6:c.T2530C:p.C844R;ENSG00000074657:ENST00000591808:exon5:c.T2530C:p.C844R;ENSG00000074657:ENST00000589288:exon5:c.T2530C:p.C844R;	0.285506068757246	0.576
18	56606678	T	G	18	58939446	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon6:c.T2530G:p.C844G;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.T2530G:p.C844G;ENSG00000074657:ENST00000591083:exon5:c.T2530G:p.C844G;ENSG00000074657:ENST00000591230:exon6:c.T2530G:p.C844G;ENSG00000074657:ENST00000591808:exon5:c.T2530G:p.C844G;ENSG00000074657:ENST00000589288:exon5:c.T2530G:p.C844G;	0.679695973934538	0.606
18	56606851	A	C	18	58939619	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon6:c.A2703C:p.P901P;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2703C:p.P901P;ENSG00000074657:ENST00000591083:exon5:c.A2703C:p.P901P;ENSG00000074657:ENST00000591230:exon6:c.A2703C:p.P901P;ENSG00000074657:ENST00000591808:exon5:c.A2703C:p.P901P;ENSG00000074657:ENST00000589288:exon5:c.A2703C:p.P901P;	2.02543526918595E-5	0.004
18	56606851	A	G	18	58939619	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon6:c.A2703G:p.P901P;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2703G:p.P901P;ENSG00000074657:ENST00000591083:exon5:c.A2703G:p.P901P;ENSG00000074657:ENST00000591230:exon6:c.A2703G:p.P901P;ENSG00000074657:ENST00000591808:exon5:c.A2703G:p.P901P;ENSG00000074657:ENST00000589288:exon5:c.A2703G:p.P901P;	5.48251820877055E-5	0.03
18	56606851	A	T	18	58939619	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon6:c.A2703T:p.P901P;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2703T:p.P901P;ENSG00000074657:ENST00000591083:exon5:c.A2703T:p.P901P;ENSG00000074657:ENST00000591230:exon6:c.A2703T:p.P901P;ENSG00000074657:ENST00000591808:exon5:c.A2703T:p.P901P;ENSG00000074657:ENST00000589288:exon5:c.A2703T:p.P901P;	0.0013684437950698	0.186
18	56606852	A	C	18	58939620	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon6:c.A2704C:p.K902Q;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2704C:p.K902Q;ENSG00000074657:ENST00000591083:exon5:c.A2704C:p.K902Q;ENSG00000074657:ENST00000591230:exon6:c.A2704C:p.K902Q;ENSG00000074657:ENST00000591808:exon5:c.A2704C:p.K902Q;ENSG00000074657:ENST00000589288:exon5:c.A2704C:p.K902Q;	0.171951902904392	0.514
18	56606852	A	G	18	58939620	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon6:c.A2704G:p.K902E;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2704G:p.K902E;ENSG00000074657:ENST00000591083:exon5:c.A2704G:p.K902E;ENSG00000074657:ENST00000591230:exon6:c.A2704G:p.K902E;ENSG00000074657:ENST00000591808:exon5:c.A2704G:p.K902E;ENSG00000074657:ENST00000589288:exon5:c.A2704G:p.K902E;	0.991415415517012	0.946
18	56606852	A	T	18	58939620	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon6:c.A2704T:p.K902X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon6:c.A2704T:p.K902X;ENSG00000074657:ENST00000591083:exon5:c.A2704T:p.K902X;ENSG00000074657:ENST00000591230:exon6:c.A2704T:p.K902X;ENSG00000074657:ENST00000591808:exon5:c.A2704T:p.K902X;ENSG00000074657:ENST00000589288:exon5:c.A2704T:p.K902X;	0.987859165373923	0.904
18	56606853	A	C	18	58939621	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon6:c.A2705C:p.K902T;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2705C:p.K902T;ENSG00000074657:ENST00000591083:exon5:c.A2705C:p.K902T;ENSG00000074657:ENST00000591230:exon6:c.A2705C:p.K902T;ENSG00000074657:ENST00000591808:exon5:c.A2705C:p.K902T;ENSG00000074657:ENST00000589288:exon5:c.A2705C:p.K902T;	0.227123070020315	0.56
18	56606853	A	G	18	58939621	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon6:c.A2705G:p.K902R;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2705G:p.K902R;ENSG00000074657:ENST00000591083:exon5:c.A2705G:p.K902R;ENSG00000074657:ENST00000591230:exon6:c.A2705G:p.K902R;ENSG00000074657:ENST00000591808:exon5:c.A2705G:p.K902R;ENSG00000074657:ENST00000589288:exon5:c.A2705G:p.K902R;	0.166297726569483	0.39
18	56606853	A	T	18	58939621	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon6:c.A2705T:p.K902I;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon6:c.A2705T:p.K902I;ENSG00000074657:ENST00000591083:exon5:c.A2705T:p.K902I;ENSG00000074657:ENST00000591230:exon6:c.A2705T:p.K902I;ENSG00000074657:ENST00000591808:exon5:c.A2705T:p.K902I;ENSG00000074657:ENST00000589288:exon5:c.A2705T:p.K902I;	0.679048342753904	0.646
18	56606854	G	A	18	58939622	y	y	splicing	ZNF532(NM_018181:exon6:c.2705+1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2705+1G>A;ENST00000591083:exon5:c.2705+1G>A;ENST00000589288:exon5:c.2705+1G>A;ENST00000591230:exon6:c.2705+1G>A;ENST00000591808:exon5:c.2705+1G>A)	.	.	0.999981760802075	0.944
18	56606854	G	C	18	58939622	y	y	splicing	ZNF532(NM_018181:exon6:c.2705+1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2705+1G>C;ENST00000591083:exon5:c.2705+1G>C;ENST00000589288:exon5:c.2705+1G>C;ENST00000591230:exon6:c.2705+1G>C;ENST00000591808:exon5:c.2705+1G>C)	.	.	0.999981760802075	0.944
18	56606854	G	T	18	58939622	y	y	splicing	ZNF532(NM_018181:exon6:c.2705+1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2705+1G>T;ENST00000591083:exon5:c.2705+1G>T;ENST00000589288:exon5:c.2705+1G>T;ENST00000591230:exon6:c.2705+1G>T;ENST00000591808:exon5:c.2705+1G>T)	.	.	0.999981760802075	0.944
18	56606855	T	A	18	58939623	y	y	splicing	ZNF532(NM_018181:exon6:c.2705+2T>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2705+2T>A;ENST00000591083:exon5:c.2705+2T>A;ENST00000589288:exon5:c.2705+2T>A;ENST00000591230:exon6:c.2705+2T>A;ENST00000591808:exon5:c.2705+2T>A)	.	.	0.999989917668626	0.928
18	56606855	T	C	18	58939623	y	y	splicing	ZNF532(NM_018181:exon6:c.2705+2T>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2705+2T>C;ENST00000591083:exon5:c.2705+2T>C;ENST00000589288:exon5:c.2705+2T>C;ENST00000591230:exon6:c.2705+2T>C;ENST00000591808:exon5:c.2705+2T>C)	.	.	0.994485838132979	0.662
18	56606855	T	G	18	58939623	y	y	splicing	ZNF532(NM_018181:exon6:c.2705+2T>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon6:c.2705+2T>G;ENST00000591083:exon5:c.2705+2T>G;ENST00000589288:exon5:c.2705+2T>G;ENST00000591230:exon6:c.2705+2T>G;ENST00000591808:exon5:c.2705+2T>G)	.	.	0.999989917668626	0.928
18	56606856	A	C	18	58939624	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999902043369853	0.93
18	56606856	A	G	18	58939624	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.616012584743455	0.446
18	56606856	A	T	18	58939624	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.997623546254955	0.926
18	56606857	A	C	18	58939625	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.960532237905619	0.698
18	56606857	A	G	18	58939625	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.991782173962224	0.828
18	56606857	A	T	18	58939625	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.997281942495808	0.794
18	56606858	G	A	18	58939626	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.996369397578312	0.858
18	56606858	G	C	18	58939626	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.997824145622	0.926
18	56606858	G	T	18	58939626	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999611784612787	0.9
18	56606859	T	A	18	58939627	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.981165058390798	0.814
18	56606859	T	C	18	58939627	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.856005766826302	0.77
18	56606859	T	G	18	58939627	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.962865200376312	0.772
18	56606860	C	A	18	58939628	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00516893463387724	0.038
18	56606860	C	G	18	58939628	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00622786257598514	0.048
18	56606860	C	T	18	58939628	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00622786257598514	0.038
18	56606861	A	C	18	58939629	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.89839466358653E-4	0.036
18	56606861	A	G	18	58939629	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.89839466358653E-4	0.036
18	56606861	A	T	18	58939629	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.35031108072583E-4	0.02
18	56615287	C	A	18	58948055	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0864938617008175	0.182
18	56615287	C	G	18	58948055	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0558222156161759	0.16
18	56615287	C	T	18	58948055	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.013182920647609	0.252
18	56615288	T	A	18	58948056	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.284477653412006	0.486
18	56615288	T	C	18	58948056	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.1239126133715	0.328
18	56615288	T	G	18	58948056	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.29967472451634	0.488
18	56615289	T	A	18	58948057	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.96810603376224	0.652
18	56615289	T	C	18	58948057	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.372943255970016	0.472
18	56615289	T	G	18	58948057	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.966952850086434	0.632
18	56615290	C	A	18	58948058	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.950176097428483	0.644
18	56615290	C	G	18	58948058	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.949520224571178	0.64
18	56615290	C	T	18	58948058	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.970116278523652	0.668
18	56615291	T	A	18	58948059	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.270856908143167	0.294
18	56615291	T	C	18	58948059	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00478670408462205	0.044
18	56615291	T	G	18	58948059	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0529935110694217	0.258
18	56615292	A	C	18	58948060	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.1114286867088E-5	0.0
18	56615292	A	G	18	58948060	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.37432025496364E-5	0.0
18	56615292	A	T	18	58948060	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.19094982617635E-5	0.0
18	56615293	T	A	18	58948061	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.526677777254603	0.402
18	56615293	T	C	18	58948061	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0141448676524532	0.202
18	56615293	T	G	18	58948061	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999911355868751	0.964
18	56615294	T	A	18	58948062	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.806140117972376	0.582
18	56615294	T	C	18	58948062	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.144349146089921	0.282
18	56615294	T	G	18	58948062	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.676643613949996	0.57
18	56615295	T	A	18	58948063	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00181914691217988	0.052
18	56615295	T	C	18	58948063	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.49338398457554E-4	0.068
18	56615295	T	G	18	58948063	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00594850893057007	0.126
18	56615296	T	A	18	58948064	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.947060086153649	0.55
18	56615296	T	C	18	58948064	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.44423836281365E-4	0.016
18	56615296	T	G	18	58948064	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.997245754545514	0.852
18	56615297	A	C	18	58948065	y	y	splicing	ZNF532(NM_018181:exon7:c.2706-2A>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2706-2A>C;ENST00000591083:exon6:c.2706-2A>C;ENST00000589288:exon6:c.2706-2A>C;ENST00000591230:exon7:c.2706-2A>C;ENST00000591808:exon6:c.2706-2A>C)	.	.	0.999988247793601	0.932
18	56615297	A	G	18	58948065	y	y	splicing	ZNF532(NM_018181:exon7:c.2706-2A>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2706-2A>G;ENST00000591083:exon6:c.2706-2A>G;ENST00000589288:exon6:c.2706-2A>G;ENST00000591230:exon7:c.2706-2A>G;ENST00000591808:exon6:c.2706-2A>G)	.	.	0.999988247793601	0.932
18	56615297	A	T	18	58948065	y	y	splicing	ZNF532(NM_018181:exon7:c.2706-2A>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2706-2A>T;ENST00000591083:exon6:c.2706-2A>T;ENST00000589288:exon6:c.2706-2A>T;ENST00000591230:exon7:c.2706-2A>T;ENST00000591808:exon6:c.2706-2A>T)	.	.	0.999988247793601	0.932
18	56615298	G	A	18	58948066	y	y	splicing	ZNF532(NM_018181:exon7:c.2706-1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2706-1G>A;ENST00000591083:exon6:c.2706-1G>A;ENST00000589288:exon6:c.2706-1G>A;ENST00000591230:exon7:c.2706-1G>A;ENST00000591808:exon6:c.2706-1G>A)	.	.	0.999990361384395	0.938
18	56615298	G	C	18	58948066	y	y	splicing	ZNF532(NM_018181:exon7:c.2706-1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2706-1G>C;ENST00000591083:exon6:c.2706-1G>C;ENST00000589288:exon6:c.2706-1G>C;ENST00000591230:exon7:c.2706-1G>C;ENST00000591808:exon6:c.2706-1G>C)	.	.	0.999990361384395	0.938
18	56615298	G	T	18	58948066	y	y	splicing	ZNF532(NM_018181:exon7:c.2706-1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2706-1G>T;ENST00000591083:exon6:c.2706-1G>T;ENST00000589288:exon6:c.2706-1G>T;ENST00000591230:exon7:c.2706-1G>T;ENST00000591808:exon6:c.2706-1G>T)	.	.	0.999990361384395	0.938
18	56615299	A	C	18	58948067	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2706C:p.K902N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2706C:p.K902N;ENSG00000074657:ENST00000591083:exon6:c.A2706C:p.K902N;ENSG00000074657:ENST00000591230:exon7:c.A2706C:p.K902N;ENSG00000074657:ENST00000591808:exon6:c.A2706C:p.K902N;ENSG00000074657:ENST00000589288:exon6:c.A2706C:p.K902N;	0.776206861214114	0.572
18	56615299	A	G	18	58948067	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon7:c.A2706G:p.K902K;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2706G:p.K902K;ENSG00000074657:ENST00000591083:exon6:c.A2706G:p.K902K;ENSG00000074657:ENST00000591230:exon7:c.A2706G:p.K902K;ENSG00000074657:ENST00000591808:exon6:c.A2706G:p.K902K;ENSG00000074657:ENST00000589288:exon6:c.A2706G:p.K902K;	9.18428610534141E-4	0.01
18	56615299	A	T	18	58948067	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2706T:p.K902N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2706T:p.K902N;ENSG00000074657:ENST00000591083:exon6:c.A2706T:p.K902N;ENSG00000074657:ENST00000591230:exon7:c.A2706T:p.K902N;ENSG00000074657:ENST00000591808:exon6:c.A2706T:p.K902N;ENSG00000074657:ENST00000589288:exon6:c.A2706T:p.K902N;	0.762473900254738	0.524
18	56615300	A	C	18	58948068	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2707C:p.I903L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2707C:p.I903L;ENSG00000074657:ENST00000591083:exon6:c.A2707C:p.I903L;ENSG00000074657:ENST00000591230:exon7:c.A2707C:p.I903L;ENSG00000074657:ENST00000591808:exon6:c.A2707C:p.I903L;ENSG00000074657:ENST00000589288:exon6:c.A2707C:p.I903L;	7.06540700274104E-5	0.0
18	56615300	A	G	18	58948068	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2707G:p.I903V;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2707G:p.I903V;ENSG00000074657:ENST00000591083:exon6:c.A2707G:p.I903V;ENSG00000074657:ENST00000591230:exon7:c.A2707G:p.I903V;ENSG00000074657:ENST00000591808:exon6:c.A2707G:p.I903V;ENSG00000074657:ENST00000589288:exon6:c.A2707G:p.I903V;	1.23741817841137E-4	0.02
18	56615300	A	T	18	58948068	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2707T:p.I903L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2707T:p.I903L;ENSG00000074657:ENST00000591083:exon6:c.A2707T:p.I903L;ENSG00000074657:ENST00000591230:exon7:c.A2707T:p.I903L;ENSG00000074657:ENST00000591808:exon6:c.A2707T:p.I903L;ENSG00000074657:ENST00000589288:exon6:c.A2707T:p.I903L;	1.7901294781192E-5	0.002
18	56615459	A	C	18	58948227	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2866C:p.K956Q;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2866C:p.K956Q;ENSG00000074657:ENST00000591083:exon6:c.A2866C:p.K956Q;ENSG00000074657:ENST00000591230:exon7:c.A2866C:p.K956Q;ENSG00000074657:ENST00000591808:exon6:c.A2866C:p.K956Q;ENSG00000074657:ENST00000589288:exon6:c.A2866C:p.K956Q;	0.803453957979987	0.7
18	56615459	A	G	18	58948227	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2866G:p.K956E;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2866G:p.K956E;ENSG00000074657:ENST00000591083:exon6:c.A2866G:p.K956E;ENSG00000074657:ENST00000591230:exon7:c.A2866G:p.K956E;ENSG00000074657:ENST00000591808:exon6:c.A2866G:p.K956E;ENSG00000074657:ENST00000589288:exon6:c.A2866G:p.K956E;	0.43384032853902	0.512
18	56615459	A	T	18	58948227	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon7:c.A2866T:p.K956X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon7:c.A2866T:p.K956X;ENSG00000074657:ENST00000591083:exon6:c.A2866T:p.K956X;ENSG00000074657:ENST00000591230:exon7:c.A2866T:p.K956X;ENSG00000074657:ENST00000591808:exon6:c.A2866T:p.K956X;ENSG00000074657:ENST00000589288:exon6:c.A2866T:p.K956X;	0.993399751318746	0.754
18	56615460	A	C	18	58948228	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2867C:p.K956T;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2867C:p.K956T;ENSG00000074657:ENST00000591083:exon6:c.A2867C:p.K956T;ENSG00000074657:ENST00000591230:exon7:c.A2867C:p.K956T;ENSG00000074657:ENST00000591808:exon6:c.A2867C:p.K956T;ENSG00000074657:ENST00000589288:exon6:c.A2867C:p.K956T;	0.994256866991464	0.95
18	56615460	A	G	18	58948228	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2867G:p.K956R;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2867G:p.K956R;ENSG00000074657:ENST00000591083:exon6:c.A2867G:p.K956R;ENSG00000074657:ENST00000591230:exon7:c.A2867G:p.K956R;ENSG00000074657:ENST00000591808:exon6:c.A2867G:p.K956R;ENSG00000074657:ENST00000589288:exon6:c.A2867G:p.K956R;	0.999869800657769	0.964
18	56615460	A	T	18	58948228	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.A2867T:p.K956M;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.A2867T:p.K956M;ENSG00000074657:ENST00000591083:exon6:c.A2867T:p.K956M;ENSG00000074657:ENST00000591230:exon7:c.A2867T:p.K956M;ENSG00000074657:ENST00000591808:exon6:c.A2867T:p.K956M;ENSG00000074657:ENST00000589288:exon6:c.A2867T:p.K956M;	0.99985850990222	0.998
18	56615461	G	A	18	58948229	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon7:c.G2868A:p.K956K;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.G2868A:p.K956K;ENSG00000074657:ENST00000591083:exon6:c.G2868A:p.K956K;ENSG00000074657:ENST00000591230:exon7:c.G2868A:p.K956K;ENSG00000074657:ENST00000591808:exon6:c.G2868A:p.K956K;ENSG00000074657:ENST00000589288:exon6:c.G2868A:p.K956K;	0.999949706831793	0.998
18	56615461	G	C	18	58948229	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.G2868C:p.K956N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.G2868C:p.K956N;ENSG00000074657:ENST00000591083:exon6:c.G2868C:p.K956N;ENSG00000074657:ENST00000591230:exon7:c.G2868C:p.K956N;ENSG00000074657:ENST00000591808:exon6:c.G2868C:p.K956N;ENSG00000074657:ENST00000589288:exon6:c.G2868C:p.K956N;	0.99999721398396	1.0
18	56615461	G	T	18	58948229	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon7:c.G2868T:p.K956N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon7:c.G2868T:p.K956N;ENSG00000074657:ENST00000591083:exon6:c.G2868T:p.K956N;ENSG00000074657:ENST00000591230:exon7:c.G2868T:p.K956N;ENSG00000074657:ENST00000591808:exon6:c.G2868T:p.K956N;ENSG00000074657:ENST00000589288:exon6:c.G2868T:p.K956N;	0.999983850895437	0.994
18	56615462	G	A	18	58948230	y	y	splicing	ZNF532(NM_018181:exon7:c.2868+1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2868+1G>A;ENST00000591083:exon6:c.2868+1G>A;ENST00000589288:exon6:c.2868+1G>A;ENST00000591230:exon7:c.2868+1G>A;ENST00000591808:exon6:c.2868+1G>A;ENST00000585662:exon1:c.46+1G>A)	.	.	0.999990361384395	0.938
18	56615462	G	C	18	58948230	y	y	splicing	ZNF532(NM_018181:exon7:c.2868+1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2868+1G>C;ENST00000591083:exon6:c.2868+1G>C;ENST00000589288:exon6:c.2868+1G>C;ENST00000591230:exon7:c.2868+1G>C;ENST00000591808:exon6:c.2868+1G>C;ENST00000585662:exon1:c.46+1G>C)	.	.	0.999990361384395	0.938
18	56615462	G	T	18	58948230	y	y	splicing	ZNF532(NM_018181:exon7:c.2868+1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2868+1G>T;ENST00000591083:exon6:c.2868+1G>T;ENST00000589288:exon6:c.2868+1G>T;ENST00000591230:exon7:c.2868+1G>T;ENST00000591808:exon6:c.2868+1G>T;ENST00000585662:exon1:c.46+1G>T)	.	.	0.999990361384395	0.938
18	56615463	T	A	18	58948231	y	y	splicing	ZNF532(NM_018181:exon7:c.2868+2T>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2868+2T>A;ENST00000591083:exon6:c.2868+2T>A;ENST00000589288:exon6:c.2868+2T>A;ENST00000591230:exon7:c.2868+2T>A;ENST00000591808:exon6:c.2868+2T>A;ENST00000585662:exon1:c.46+2T>A)	.	.	0.999988247793601	0.932
18	56615463	T	C	18	58948231	y	y	splicing	ZNF532(NM_018181:exon7:c.2868+2T>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2868+2T>C;ENST00000591083:exon6:c.2868+2T>C;ENST00000589288:exon6:c.2868+2T>C;ENST00000591230:exon7:c.2868+2T>C;ENST00000591808:exon6:c.2868+2T>C;ENST00000585662:exon1:c.46+2T>C)	.	.	0.999929727175276	0.866
18	56615463	T	G	18	58948231	y	y	splicing	ZNF532(NM_018181:exon7:c.2868+2T>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon7:c.2868+2T>G;ENST00000591083:exon6:c.2868+2T>G;ENST00000589288:exon6:c.2868+2T>G;ENST00000591230:exon7:c.2868+2T>G;ENST00000591808:exon6:c.2868+2T>G;ENST00000585662:exon1:c.46+2T>G)	.	.	0.999988247793601	0.932
18	56615464	G	A	18	58948232	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00264672354133681	0.092
18	56615464	G	C	18	58948232	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.956208149638612	0.54
18	56615464	G	T	18	58948232	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.932306318226096	0.478
18	56615465	T	A	18	58948233	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.30066687244812E-4	0.062
18	56615465	T	C	18	58948233	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00124212407187739	0.074
18	56615465	T	G	18	58948233	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.62599718238435E-5	0.008
18	56615466	G	A	18	58948234	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999606921280886	0.942
18	56615466	G	C	18	58948234	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999819296987033	0.882
18	56615466	G	T	18	58948234	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999935631563576	0.944
18	56615467	T	A	18	58948235	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.933595773473674	0.792
18	56615467	T	C	18	58948235	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.299011339973967	0.412
18	56615467	T	G	18	58948235	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.705933011389891	0.57
18	56615468	G	A	18	58948236	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00696347486152381	0.048
18	56615468	G	C	18	58948236	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00677658077730673	0.048
18	56615468	G	T	18	58948236	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00179352277906645	0.044
18	56615469	T	A	18	58948237	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.31050207785094E-4	0.006
18	56615469	T	C	18	58948237	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.14264849485222E-4	0.01
18	56615469	T	G	18	58948237	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.15112515964695E-4	0.004
18	56620738	T	A	18	58953506	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99900871955174	0.896
18	56620738	T	C	18	58953506	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.166107020666458	0.334
18	56620738	T	G	18	58953506	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999149585312799	0.862
18	56620739	T	A	18	58953507	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.998471277091862	0.88
18	56620739	T	C	18	58953507	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.643418715433114	0.488
18	56620739	T	G	18	58953507	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.994073968297067	0.846
18	56620740	T	A	18	58953508	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.705534521454632	0.594
18	56620740	T	C	18	58953508	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.34262508579195E-4	0.16
18	56620740	T	G	18	58953508	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.929332568003616	0.682
18	56620741	A	C	18	58953509	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.92672682481262E-5	0.018
18	56620741	A	G	18	58953509	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.55311003929844E-4	0.034
18	56620741	A	T	18	58953509	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.07439820832259E-5	0.032
18	56620742	T	A	18	58953510	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.711206376491285	0.436
18	56620742	T	C	18	58953510	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.17742663853976E-4	0.068
18	56620742	T	G	18	58953510	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.99992763878072	0.994
18	56620743	A	C	18	58953511	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.68783372538249E-5	0.002
18	56620743	A	G	18	58953511	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.34356796654543E-5	0.0
18	56620743	A	T	18	58953511	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.10089335576126E-5	0.018
18	56620744	A	C	18	58953512	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.017444306866011	0.218
18	56620744	A	G	18	58953512	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999242850936162	0.904
18	56620744	A	T	18	58953512	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0409193597464482	0.294
18	56620745	T	A	18	58953513	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999811909916306	0.914
18	56620745	T	C	18	58953513	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.09251667952453E-4	0.084
18	56620745	T	G	18	58953513	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999949993964713	0.932
18	56620746	G	A	18	58953514	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.46476474782221E-4	0.06
18	56620746	G	C	18	58953514	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.02806149305264E-4	0.042
18	56620746	G	T	18	58953514	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.21889712839769E-4	0.068
18	56620747	T	A	18	58953515	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.859928795743607	0.48
18	56620747	T	C	18	58953515	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.79100550310916E-4	0.0
18	56620747	T	G	18	58953515	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999347276321344	0.8
18	56620748	A	C	18	58953516	y	y	splicing	ZNF532(NM_018181:exon8:c.2869-2A>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.2869-2A>C;ENST00000591083:exon7:c.2869-2A>C;ENST00000589288:exon7:c.2869-2A>C;ENST00000591230:exon8:c.2869-2A>C;ENST00000591808:exon7:c.2869-2A>C;ENST00000585662:exon2:c.47-2A>C)	.	.	0.999986741007567	0.944
18	56620748	A	G	18	58953516	y	y	splicing	ZNF532(NM_018181:exon8:c.2869-2A>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.2869-2A>G;ENST00000591083:exon7:c.2869-2A>G;ENST00000589288:exon7:c.2869-2A>G;ENST00000591230:exon8:c.2869-2A>G;ENST00000591808:exon7:c.2869-2A>G;ENST00000585662:exon2:c.47-2A>G)	.	.	0.999986741007567	0.944
18	56620748	A	T	18	58953516	y	y	splicing	ZNF532(NM_018181:exon8:c.2869-2A>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.2869-2A>T;ENST00000591083:exon7:c.2869-2A>T;ENST00000589288:exon7:c.2869-2A>T;ENST00000591230:exon8:c.2869-2A>T;ENST00000591808:exon7:c.2869-2A>T;ENST00000585662:exon2:c.47-2A>T)	.	.	0.999986741007567	0.944
18	56620749	G	A	18	58953517	y	y	splicing	ZNF532(NM_018181:exon8:c.2869-1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.2869-1G>A;ENST00000591083:exon7:c.2869-1G>A;ENST00000589288:exon7:c.2869-1G>A;ENST00000591230:exon8:c.2869-1G>A;ENST00000591808:exon7:c.2869-1G>A;ENST00000585662:exon2:c.47-1G>A)	.	.	0.999983677848485	0.942
18	56620749	G	C	18	58953517	y	y	splicing	ZNF532(NM_018181:exon8:c.2869-1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.2869-1G>C;ENST00000591083:exon7:c.2869-1G>C;ENST00000589288:exon7:c.2869-1G>C;ENST00000591230:exon8:c.2869-1G>C;ENST00000591808:exon7:c.2869-1G>C;ENST00000585662:exon2:c.47-1G>C)	.	.	0.999983677848485	0.942
18	56620749	G	T	18	58953517	y	y	splicing	ZNF532(NM_018181:exon8:c.2869-1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.2869-1G>T;ENST00000591083:exon7:c.2869-1G>T;ENST00000589288:exon7:c.2869-1G>T;ENST00000591230:exon8:c.2869-1G>T;ENST00000591808:exon7:c.2869-1G>T;ENST00000585662:exon2:c.47-1G>T)	.	.	0.999983677848485	0.942
18	56620750	T	A	18	58953518	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.T2869A:p.S957T;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.T2869A:p.S957T;ENSG00000074657:ENST00000591083:exon7:c.T2869A:p.S957T;ENSG00000074657:ENST00000591230:exon8:c.T2869A:p.S957T;ENSG00000074657:ENST00000591808:exon7:c.T2869A:p.S957T;ENSG00000074657:ENST00000589288:exon7:c.T2869A:p.S957T;	0.00131958450727368	0.016
18	56620750	T	C	18	58953518	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.T2869C:p.S957P;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.T2869C:p.S957P;ENSG00000074657:ENST00000591083:exon7:c.T2869C:p.S957P;ENSG00000074657:ENST00000591230:exon8:c.T2869C:p.S957P;ENSG00000074657:ENST00000591808:exon7:c.T2869C:p.S957P;ENSG00000074657:ENST00000589288:exon7:c.T2869C:p.S957P;	0.0893938970734409	0.276
18	56620750	T	G	18	58953518	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.T2869G:p.S957A;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.T2869G:p.S957A;ENSG00000074657:ENST00000591083:exon7:c.T2869G:p.S957A;ENSG00000074657:ENST00000591230:exon8:c.T2869G:p.S957A;ENSG00000074657:ENST00000591808:exon7:c.T2869G:p.S957A;ENSG00000074657:ENST00000589288:exon7:c.T2869G:p.S957A;	0.00248542034244763	0.066
18	56620751	C	A	18	58953519	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.C2870A:p.S957Y;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.C2870A:p.S957Y;ENSG00000074657:ENST00000591083:exon7:c.C2870A:p.S957Y;ENSG00000074657:ENST00000591230:exon8:c.C2870A:p.S957Y;ENSG00000074657:ENST00000591808:exon7:c.C2870A:p.S957Y;ENSG00000074657:ENST00000589288:exon7:c.C2870A:p.S957Y;	0.994460338032763	0.75
18	56620751	C	G	18	58953519	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.C2870G:p.S957C;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.C2870G:p.S957C;ENSG00000074657:ENST00000591083:exon7:c.C2870G:p.S957C;ENSG00000074657:ENST00000591230:exon8:c.C2870G:p.S957C;ENSG00000074657:ENST00000591808:exon7:c.C2870G:p.S957C;ENSG00000074657:ENST00000589288:exon7:c.C2870G:p.S957C;	0.954582705540358	0.662
18	56620751	C	T	18	58953519	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.C2870T:p.S957F;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.C2870T:p.S957F;ENSG00000074657:ENST00000591083:exon7:c.C2870T:p.S957F;ENSG00000074657:ENST00000591230:exon8:c.C2870T:p.S957F;ENSG00000074657:ENST00000591808:exon7:c.C2870T:p.S957F;ENSG00000074657:ENST00000589288:exon7:c.C2870T:p.S957F;	0.978670023513892	0.752
18	56621029	A	C	18	58953797	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.A3148C:p.K1050Q;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.A3148C:p.K1050Q;ENSG00000074657:ENST00000591083:exon7:c.A3148C:p.K1050Q;ENSG00000074657:ENST00000591230:exon8:c.A3148C:p.K1050Q;ENSG00000074657:ENST00000591808:exon7:c.A3148C:p.K1050Q;ENSG00000074657:ENST00000589288:exon7:c.A3148C:p.K1050Q;	0.595176294349165	0.692
18	56621029	A	G	18	58953797	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.A3148G:p.K1050E;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.A3148G:p.K1050E;ENSG00000074657:ENST00000591083:exon7:c.A3148G:p.K1050E;ENSG00000074657:ENST00000591230:exon8:c.A3148G:p.K1050E;ENSG00000074657:ENST00000591808:exon7:c.A3148G:p.K1050E;ENSG00000074657:ENST00000589288:exon7:c.A3148G:p.K1050E;	0.385117139715133	0.498
18	56621029	A	T	18	58953797	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon8:c.A3148T:p.K1050X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon8:c.A3148T:p.K1050X;ENSG00000074657:ENST00000591083:exon7:c.A3148T:p.K1050X;ENSG00000074657:ENST00000591230:exon8:c.A3148T:p.K1050X;ENSG00000074657:ENST00000591808:exon7:c.A3148T:p.K1050X;ENSG00000074657:ENST00000589288:exon7:c.A3148T:p.K1050X;	0.98207409543354	0.698
18	56621030	A	C	18	58953798	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.A3149C:p.K1050T;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.A3149C:p.K1050T;ENSG00000074657:ENST00000591083:exon7:c.A3149C:p.K1050T;ENSG00000074657:ENST00000591230:exon8:c.A3149C:p.K1050T;ENSG00000074657:ENST00000591808:exon7:c.A3149C:p.K1050T;ENSG00000074657:ENST00000589288:exon7:c.A3149C:p.K1050T;	0.999072763755307	0.966
18	56621030	A	G	18	58953798	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.A3149G:p.K1050R;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.A3149G:p.K1050R;ENSG00000074657:ENST00000591083:exon7:c.A3149G:p.K1050R;ENSG00000074657:ENST00000591230:exon8:c.A3149G:p.K1050R;ENSG00000074657:ENST00000591808:exon7:c.A3149G:p.K1050R;ENSG00000074657:ENST00000589288:exon7:c.A3149G:p.K1050R;	0.9999283865257	0.998
18	56621030	A	T	18	58953798	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.A3149T:p.K1050M;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.A3149T:p.K1050M;ENSG00000074657:ENST00000591083:exon7:c.A3149T:p.K1050M;ENSG00000074657:ENST00000591230:exon8:c.A3149T:p.K1050M;ENSG00000074657:ENST00000591808:exon7:c.A3149T:p.K1050M;ENSG00000074657:ENST00000589288:exon7:c.A3149T:p.K1050M;	0.999786840219337	0.988
18	56621031	G	A	18	58953799	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon8:c.G3150A:p.K1050K;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.G3150A:p.K1050K;ENSG00000074657:ENST00000591083:exon7:c.G3150A:p.K1050K;ENSG00000074657:ENST00000591230:exon8:c.G3150A:p.K1050K;ENSG00000074657:ENST00000591808:exon7:c.G3150A:p.K1050K;ENSG00000074657:ENST00000589288:exon7:c.G3150A:p.K1050K;	0.999906467465203	0.986
18	56621031	G	C	18	58953799	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.G3150C:p.K1050N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.G3150C:p.K1050N;ENSG00000074657:ENST00000591083:exon7:c.G3150C:p.K1050N;ENSG00000074657:ENST00000591230:exon8:c.G3150C:p.K1050N;ENSG00000074657:ENST00000591808:exon7:c.G3150C:p.K1050N;ENSG00000074657:ENST00000589288:exon7:c.G3150C:p.K1050N;	0.999995787078083	0.998
18	56621031	G	T	18	58953799	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon8:c.G3150T:p.K1050N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon8:c.G3150T:p.K1050N;ENSG00000074657:ENST00000591083:exon7:c.G3150T:p.K1050N;ENSG00000074657:ENST00000591230:exon8:c.G3150T:p.K1050N;ENSG00000074657:ENST00000591808:exon7:c.G3150T:p.K1050N;ENSG00000074657:ENST00000589288:exon7:c.G3150T:p.K1050N;	0.99997532019071	0.986
18	56621032	G	A	18	58953800	y	y	splicing	ZNF532(NM_018181:exon8:c.3150+1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.3150+1G>A;ENST00000591083:exon7:c.3150+1G>A;ENST00000589288:exon7:c.3150+1G>A;ENST00000591230:exon8:c.3150+1G>A;ENST00000591808:exon7:c.3150+1G>A;ENST00000585662:exon2:c.328+1G>A)	.	.	0.999985532734767	0.936
18	56621032	G	C	18	58953800	y	y	splicing	ZNF532(NM_018181:exon8:c.3150+1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.3150+1G>C;ENST00000591083:exon7:c.3150+1G>C;ENST00000589288:exon7:c.3150+1G>C;ENST00000591230:exon8:c.3150+1G>C;ENST00000591808:exon7:c.3150+1G>C;ENST00000585662:exon2:c.328+1G>C)	.	.	0.999985532734767	0.936
18	56621032	G	T	18	58953800	y	y	splicing	ZNF532(NM_018181:exon8:c.3150+1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.3150+1G>T;ENST00000591083:exon7:c.3150+1G>T;ENST00000589288:exon7:c.3150+1G>T;ENST00000591230:exon8:c.3150+1G>T;ENST00000591808:exon7:c.3150+1G>T;ENST00000585662:exon2:c.328+1G>T)	.	.	0.999985532734767	0.936
18	56621033	T	A	18	58953801	y	y	splicing	ZNF532(NM_018181:exon8:c.3150+2T>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.3150+2T>A;ENST00000591083:exon7:c.3150+2T>A;ENST00000589288:exon7:c.3150+2T>A;ENST00000591230:exon8:c.3150+2T>A;ENST00000591808:exon7:c.3150+2T>A;ENST00000585662:exon2:c.328+2T>A)	.	.	0.999988247793601	0.928
18	56621033	T	C	18	58953801	y	y	splicing	ZNF532(NM_018181:exon8:c.3150+2T>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.3150+2T>C;ENST00000591083:exon7:c.3150+2T>C;ENST00000589288:exon7:c.3150+2T>C;ENST00000591230:exon8:c.3150+2T>C;ENST00000591808:exon7:c.3150+2T>C;ENST00000585662:exon2:c.328+2T>C)	.	.	0.994669226766359	0.672
18	56621033	T	G	18	58953801	y	y	splicing	ZNF532(NM_018181:exon8:c.3150+2T>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon8:c.3150+2T>G;ENST00000591083:exon7:c.3150+2T>G;ENST00000589288:exon7:c.3150+2T>G;ENST00000591230:exon8:c.3150+2T>G;ENST00000591808:exon7:c.3150+2T>G;ENST00000585662:exon2:c.328+2T>G)	.	.	0.999988247793601	0.928
18	56621034	C	A	18	58953802	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.363568603899E-4	0.076
18	56621034	C	G	18	58953802	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.10558757172594E-4	0.07
18	56621034	C	T	18	58953802	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.77269039044991E-4	0.01
18	56621035	A	C	18	58953803	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.939576495492626	0.62
18	56621035	A	G	18	58953803	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.687730778368097	0.386
18	56621035	A	T	18	58953803	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.922205353912694	0.596
18	56621036	G	A	18	58953804	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.998836194096719	0.962
18	56621036	G	C	18	58953804	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.990166693214467	0.816
18	56621036	G	T	18	58953804	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.997031891179283	0.916
18	56621037	T	A	18	58953805	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.029316273806076	0.346
18	56621037	T	C	18	58953805	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0366100473376261	0.328
18	56621037	T	G	18	58953805	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0427840911266388	0.406
18	56621038	A	C	18	58953806	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.29043191478963E-4	0.006
18	56621038	A	G	18	58953806	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.51691543341097E-4	0.032
18	56621038	A	T	18	58953806	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.87123521971029E-4	0.042
18	56621039	A	C	18	58953807	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.27510899287691E-5	0.0
18	56621039	A	G	18	58953807	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.67637441146686E-5	0.0
18	56621039	A	T	18	58953807	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.73177220092583E-5	0.0
18	56621454	T	A	18	58954222	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.505111008882238	0.55
18	56621454	T	C	18	58954222	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.509169970029581	0.54
18	56621454	T	G	18	58954222	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.509169970029581	0.534
18	56621455	G	A	18	58954223	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.613271442017341	0.78
18	56621455	G	C	18	58954223	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.613271442017341	0.776
18	56621455	G	T	18	58954223	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.613271442017341	0.784
18	56621456	A	C	18	58954224	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.478949058639691	0.512
18	56621456	A	G	18	58954224	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.478949058639691	0.512
18	56621456	A	T	18	58954224	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.478949058639691	0.536
18	56621457	G	A	18	58954225	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.08796813064483E-4	0.18
18	56621457	G	C	18	58954225	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.3779450157057E-4	0.192
18	56621457	G	T	18	58954225	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.08796813064483E-4	0.18
18	56621458	T	A	18	58954226	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.47765307283862	0.544
18	56621458	T	C	18	58954226	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.441322157062459	0.54
18	56621458	T	G	18	58954226	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.441322157062459	0.542
18	56621459	T	A	18	58954227	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00219776315329266	0.238
18	56621459	T	C	18	58954227	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00219776315329266	0.214
18	56621459	T	G	18	58954227	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00219776315329266	0.214
18	56621460	T	A	18	58954228	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00219776315329266	0.234
18	56621460	T	C	18	58954228	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00219776315329266	0.202
18	56621460	T	G	18	58954228	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00219776315329266	0.212
18	56621461	G	A	18	58954229	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.497740786048385	0.61
18	56621461	G	C	18	58954229	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.498487134717473	0.62
18	56621461	G	T	18	58954229	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.497740786048385	0.612
18	56621462	G	A	18	58954230	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.92687100139294E-4	0.166
18	56621462	G	C	18	58954230	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.92687100139294E-4	0.146
18	56621462	G	T	18	58954230	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.92687100139294E-4	0.152
18	56621463	T	A	18	58954231	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.01824988910201E-4	0.134
18	56621463	T	C	18	58954231	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.01824988910201E-4	0.132
18	56621463	T	G	18	58954231	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.01824988910201E-4	0.132
18	56621464	A	C	18	58954232	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.329-2A>C)	.	.	9.04336019957051E-5	0.104
18	56621464	A	G	18	58954232	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.329-2A>G)	.	.	9.04336019957051E-5	0.102
18	56621464	A	T	18	58954232	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.329-2A>T)	.	.	1.01824988910201E-4	0.144
18	56621465	G	A	18	58954233	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.329-1G>A)	.	.	1.19759467530841E-5	0.022
18	56621465	G	C	18	58954233	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.329-1G>C)	.	.	1.05341803865883E-5	0.02
18	56621465	G	T	18	58954233	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.329-1G>T)	.	.	1.05341803865883E-5	0.018
18	56621466	T	A	18	58954234	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	unknown	UNKNOWN	1.01824988910201E-4	0.124
18	56621466	T	C	18	58954234	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	unknown	UNKNOWN	9.04336019957051E-5	0.106
18	56621466	T	G	18	58954234	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	unknown	UNKNOWN	9.04336019957051E-5	0.106
18	56621467	G	A	18	58954235	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	unknown	UNKNOWN	0.0123172024761357	0.146
18	56621467	G	C	18	58954235	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	unknown	UNKNOWN	0.0110671530472255	0.162
18	56621467	G	T	18	58954235	n	y	intronic	ZNF532	.	.	exonic	ENSG00000074657	unknown	UNKNOWN	0.00898700332337615	0.148
18	56621564	A	C	18	58954332	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.68551035521266E-4	0.008
18	56621564	A	G	18	58954332	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.68551035521266E-4	0.002
18	56621564	A	T	18	58954332	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.28898776158304E-4	0.0
18	56621565	T	A	18	58954333	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.37509614042655E-4	0.0
18	56621565	T	C	18	58954333	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.79810290908906E-4	0.008
18	56621565	T	G	18	58954333	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.79810290908906E-4	0.008
18	56621566	A	C	18	58954334	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.12581597765867E-4	0.0
18	56621566	A	G	18	58954334	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.12581597765867E-4	0.0
18	56621566	A	T	18	58954334	n	y	intronic	ZNF532	.	.	UTR3	ENSG00000074657	.	.	1.28787216154889E-4	0.002
18	56621567	G	A	18	58954335	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.429+1G>A)	.	.	1.02728736892418E-4	0.01
18	56621567	G	C	18	58954335	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.429+1G>C)	.	.	6.27477746119029E-5	0.0
18	56621567	G	T	18	58954335	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.429+1G>T)	.	.	1.02728736892418E-4	0.008
18	56621568	T	A	18	58954336	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.429+2T>A)	.	.	1.12780082331808E-4	0.0
18	56621568	T	C	18	58954336	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.429+2T>C)	.	.	9.66424010042737E-5	0.0
18	56621568	T	G	18	58954336	n	y	intronic	ZNF532	.	.	splicing	ENSG00000074657(ENST00000585662:exon3:c.429+2T>G)	.	.	9.66424010042737E-5	0.0
18	56621569	A	C	18	58954337	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.09562936375766E-4	0.002
18	56621569	A	G	18	58954337	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.09562936375766E-4	0.004
18	56621569	A	T	18	58954337	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.07383241157634E-4	0.016
18	56621570	A	C	18	58954338	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00324533433619169	0.038
18	56621570	A	G	18	58954338	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00324533433619169	0.038
18	56621570	A	T	18	58954338	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00324533433619169	0.042
18	56621571	G	A	18	58954339	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.09404615887614E-4	0.0
18	56621571	G	C	18	58954339	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.68256441675417E-5	0.0
18	56621571	G	T	18	58954339	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.09404615887614E-4	0.002
18	56621572	T	A	18	58954340	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.30934304505168E-4	0.01
18	56621572	T	C	18	58954340	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.86879639678869E-4	0.024
18	56621572	T	G	18	58954340	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.86879639678869E-4	0.018
18	56621573	A	C	18	58954341	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.59660858139777E-5	0.0
18	56621573	A	G	18	58954341	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.59660858139777E-5	0.0
18	56621573	A	T	18	58954341	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.59660858139777E-5	0.0
18	56621574	T	A	18	58954342	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41475658311232E-5	0.008
18	56621574	T	C	18	58954342	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41475658311232E-5	0.008
18	56621574	T	G	18	58954342	n	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.41475658311232E-5	0.008
18	56646275	T	A	18	58979043	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0010989745545867	0.09
18	56646275	T	C	18	58979043	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00115939445211426	0.022
18	56646275	T	G	18	58979043	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00151881869439359	0.064
18	56646276	C	A	18	58979044	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00191419867889575	0.066
18	56646276	C	G	18	58979044	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00212285555887292	0.058
18	56646276	C	T	18	58979044	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.58521013633849E-5	0.002
18	56646277	C	A	18	58979045	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.69673155174838E-4	0.05
18	56646277	C	G	18	58979045	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.74730329017577E-4	0.074
18	56646277	C	T	18	58979045	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.34035195019371E-5	0.0
18	56646278	T	A	18	58979046	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.80140573422526E-4	0.042
18	56646278	T	C	18	58979046	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.27324433342572E-5	0.0
18	56646278	T	G	18	58979046	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.68863328584906E-4	0.028
18	56646279	T	A	18	58979047	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00152835289868609	0.16
18	56646279	T	C	18	58979047	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.25256129086054E-5	0.016
18	56646279	T	G	18	58979047	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.21139684765097E-4	0.092
18	56646280	C	A	18	58979048	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00117788949356272	0.074
18	56646280	C	G	18	58979048	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0035439656219352	0.092
18	56646280	C	T	18	58979048	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.03787510701419E-6	0.0
18	56646281	C	A	18	58979049	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00103978198867752	0.112
18	56646281	C	G	18	58979049	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00121592815168465	0.136
18	56646281	C	T	18	58979049	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.20191745158811E-5	0.0
18	56646282	T	A	18	58979050	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00114407456522397	0.21
18	56646282	T	C	18	58979050	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00153211839638036	0.05
18	56646282	T	G	18	58979050	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00317554916773801	0.214
18	56646283	C	A	18	58979051	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.87217297172074E-5	0.0
18	56646283	C	G	18	58979051	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.70717415457348E-5	0.002
18	56646283	C	T	18	58979051	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.48067146692248E-5	0.0
18	56646284	C	A	18	58979052	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.894916207000773	0.558
18	56646284	C	G	18	58979052	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999205152618465	0.778
18	56646284	C	T	18	58979052	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.15804540983927E-4	0.016
18	56646285	A	C	18	58979053	y	y	splicing	ZNF532(NM_018181:exon9:c.3151-2A>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3151-2A>C;ENST00000591083:exon8:c.3151-2A>C;ENST00000589288:exon8:c.3151-2A>C;ENST00000591230:exon9:c.3151-2A>C;ENST00000591808:exon8:c.3151-2A>C;ENST00000586997:exon2:c.112-2A>C;ENST00000585662:exon4:c.430-2A>C)	.	.	0.999966203349492	0.932
18	56646285	A	G	18	58979053	y	y	splicing	ZNF532(NM_018181:exon9:c.3151-2A>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3151-2A>G;ENST00000591083:exon8:c.3151-2A>G;ENST00000589288:exon8:c.3151-2A>G;ENST00000591230:exon9:c.3151-2A>G;ENST00000591808:exon8:c.3151-2A>G;ENST00000586997:exon2:c.112-2A>G;ENST00000585662:exon4:c.430-2A>G)	.	.	0.999966203349492	0.932
18	56646285	A	T	18	58979053	y	y	splicing	ZNF532(NM_018181:exon9:c.3151-2A>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3151-2A>T;ENST00000591083:exon8:c.3151-2A>T;ENST00000589288:exon8:c.3151-2A>T;ENST00000591230:exon9:c.3151-2A>T;ENST00000591808:exon8:c.3151-2A>T;ENST00000586997:exon2:c.112-2A>T;ENST00000585662:exon4:c.430-2A>T)	.	.	0.999986903042585	0.934
18	56646286	G	A	18	58979054	y	y	splicing	ZNF532(NM_018181:exon9:c.3151-1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3151-1G>A;ENST00000591083:exon8:c.3151-1G>A;ENST00000589288:exon8:c.3151-1G>A;ENST00000591230:exon9:c.3151-1G>A;ENST00000591808:exon8:c.3151-1G>A;ENST00000586997:exon2:c.112-1G>A;ENST00000585662:exon4:c.430-1G>A)	.	.	0.999986675681007	0.95
18	56646286	G	C	18	58979054	y	y	splicing	ZNF532(NM_018181:exon9:c.3151-1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3151-1G>C;ENST00000591083:exon8:c.3151-1G>C;ENST00000589288:exon8:c.3151-1G>C;ENST00000591230:exon9:c.3151-1G>C;ENST00000591808:exon8:c.3151-1G>C;ENST00000586997:exon2:c.112-1G>C;ENST00000585662:exon4:c.430-1G>C)	.	.	0.999986675681007	0.95
18	56646286	G	T	18	58979054	y	y	splicing	ZNF532(NM_018181:exon9:c.3151-1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3151-1G>T;ENST00000591083:exon8:c.3151-1G>T;ENST00000589288:exon8:c.3151-1G>T;ENST00000591230:exon9:c.3151-1G>T;ENST00000591808:exon8:c.3151-1G>T;ENST00000586997:exon2:c.112-1G>T;ENST00000585662:exon4:c.430-1G>T)	.	.	0.999986675681007	0.95
18	56646287	C	A	18	58979055	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.C3151A:p.Q1051K;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.C3151A:p.Q1051K;ENSG00000074657:ENST00000591083:exon8:c.C3151A:p.Q1051K;ENSG00000074657:ENST00000591230:exon9:c.C3151A:p.Q1051K;ENSG00000074657:ENST00000591808:exon8:c.C3151A:p.Q1051K;ENSG00000074657:ENST00000589288:exon8:c.C3151A:p.Q1051K;ENSG00000074657:ENST00000586997:exon2:c.C112A:p.Q38K;	0.00305786662859802	0.012
18	56646287	C	G	18	58979055	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.C3151G:p.Q1051E;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.C3151G:p.Q1051E;ENSG00000074657:ENST00000591083:exon8:c.C3151G:p.Q1051E;ENSG00000074657:ENST00000591230:exon9:c.C3151G:p.Q1051E;ENSG00000074657:ENST00000591808:exon8:c.C3151G:p.Q1051E;ENSG00000074657:ENST00000589288:exon8:c.C3151G:p.Q1051E;ENSG00000074657:ENST00000586997:exon2:c.C112G:p.Q38E;	0.0022109636562608	0.08
18	56646287	C	T	18	58979055	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon9:c.C3151T:p.Q1051X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon9:c.C3151T:p.Q1051X;ENSG00000074657:ENST00000591083:exon8:c.C3151T:p.Q1051X;ENSG00000074657:ENST00000591230:exon9:c.C3151T:p.Q1051X;ENSG00000074657:ENST00000591808:exon8:c.C3151T:p.Q1051X;ENSG00000074657:ENST00000589288:exon8:c.C3151T:p.Q1051X;ENSG00000074657:ENST00000586997:exon2:c.C112T:p.Q38X;	0.991791121322394	0.952
18	56646288	A	C	18	58979056	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.A3152C:p.Q1051P;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.A3152C:p.Q1051P;ENSG00000074657:ENST00000591083:exon8:c.A3152C:p.Q1051P;ENSG00000074657:ENST00000591230:exon9:c.A3152C:p.Q1051P;ENSG00000074657:ENST00000591808:exon8:c.A3152C:p.Q1051P;ENSG00000074657:ENST00000589288:exon8:c.A3152C:p.Q1051P;ENSG00000074657:ENST00000586997:exon2:c.A113C:p.Q38P;	0.130224894341505	0.354
18	56646288	A	G	18	58979056	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.A3152G:p.Q1051R;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.A3152G:p.Q1051R;ENSG00000074657:ENST00000591083:exon8:c.A3152G:p.Q1051R;ENSG00000074657:ENST00000591230:exon9:c.A3152G:p.Q1051R;ENSG00000074657:ENST00000591808:exon8:c.A3152G:p.Q1051R;ENSG00000074657:ENST00000589288:exon8:c.A3152G:p.Q1051R;ENSG00000074657:ENST00000586997:exon2:c.A113G:p.Q38R;	0.0404730671279014	0.062
18	56646288	A	T	18	58979056	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.A3152T:p.Q1051L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.A3152T:p.Q1051L;ENSG00000074657:ENST00000591083:exon8:c.A3152T:p.Q1051L;ENSG00000074657:ENST00000591230:exon9:c.A3152T:p.Q1051L;ENSG00000074657:ENST00000591808:exon8:c.A3152T:p.Q1051L;ENSG00000074657:ENST00000589288:exon8:c.A3152T:p.Q1051L;ENSG00000074657:ENST00000586997:exon2:c.A113T:p.Q38L;	0.0655953665517027	0.44
18	56646397	C	A	18	58979165	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon9:c.C3261A:p.C1087X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon9:c.C3261A:p.C1087X;ENSG00000074657:ENST00000591083:exon8:c.C3261A:p.C1087X;ENSG00000074657:ENST00000591230:exon9:c.C3261A:p.C1087X;ENSG00000074657:ENST00000591808:exon8:c.C3261A:p.C1087X;ENSG00000074657:ENST00000589288:exon8:c.C3261A:p.C1087X;ENSG00000074657:ENST00000586997:exon2:c.C222A:p.C74X;	0.942005299653136	0.832
18	56646397	C	G	18	58979165	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.C3261G:p.C1087W;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.C3261G:p.C1087W;ENSG00000074657:ENST00000591083:exon8:c.C3261G:p.C1087W;ENSG00000074657:ENST00000591230:exon9:c.C3261G:p.C1087W;ENSG00000074657:ENST00000591808:exon8:c.C3261G:p.C1087W;ENSG00000074657:ENST00000589288:exon8:c.C3261G:p.C1087W;ENSG00000074657:ENST00000586997:exon2:c.C222G:p.C74W;	0.831434989815227	0.574
18	56646397	C	T	18	58979165	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon9:c.C3261T:p.C1087C;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.C3261T:p.C1087C;ENSG00000074657:ENST00000591083:exon8:c.C3261T:p.C1087C;ENSG00000074657:ENST00000591230:exon9:c.C3261T:p.C1087C;ENSG00000074657:ENST00000591808:exon8:c.C3261T:p.C1087C;ENSG00000074657:ENST00000589288:exon8:c.C3261T:p.C1087C;ENSG00000074657:ENST00000586997:exon2:c.C222T:p.C74C;	0.9800499303869	0.51
18	56646398	T	A	18	58979166	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.T3262A:p.S1088T;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.T3262A:p.S1088T;ENSG00000074657:ENST00000591083:exon8:c.T3262A:p.S1088T;ENSG00000074657:ENST00000591230:exon9:c.T3262A:p.S1088T;ENSG00000074657:ENST00000591808:exon8:c.T3262A:p.S1088T;ENSG00000074657:ENST00000589288:exon8:c.T3262A:p.S1088T;ENSG00000074657:ENST00000586997:exon2:c.T223A:p.S75T;	6.78125765783289E-4	0.088
18	56646398	T	C	18	58979166	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.T3262C:p.S1088P;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.T3262C:p.S1088P;ENSG00000074657:ENST00000591083:exon8:c.T3262C:p.S1088P;ENSG00000074657:ENST00000591230:exon9:c.T3262C:p.S1088P;ENSG00000074657:ENST00000591808:exon8:c.T3262C:p.S1088P;ENSG00000074657:ENST00000589288:exon8:c.T3262C:p.S1088P;ENSG00000074657:ENST00000586997:exon2:c.T223C:p.S75P;	0.201116034663835	0.484
18	56646398	T	G	18	58979166	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.T3262G:p.S1088A;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.T3262G:p.S1088A;ENSG00000074657:ENST00000591083:exon8:c.T3262G:p.S1088A;ENSG00000074657:ENST00000591230:exon9:c.T3262G:p.S1088A;ENSG00000074657:ENST00000591808:exon8:c.T3262G:p.S1088A;ENSG00000074657:ENST00000589288:exon8:c.T3262G:p.S1088A;ENSG00000074657:ENST00000586997:exon2:c.T223G:p.S75A;	0.0223825416458069	0.176
18	56646399	C	A	18	58979167	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon9:c.C3263A:p.S1088X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon9:c.C3263A:p.S1088X;ENSG00000074657:ENST00000591083:exon8:c.C3263A:p.S1088X;ENSG00000074657:ENST00000591230:exon9:c.C3263A:p.S1088X;ENSG00000074657:ENST00000591808:exon8:c.C3263A:p.S1088X;ENSG00000074657:ENST00000589288:exon8:c.C3263A:p.S1088X;ENSG00000074657:ENST00000586997:exon2:c.C224A:p.S75X;	0.968702145966684	0.826
18	56646399	C	G	18	58979167	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.C3263G:p.S1088W;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.C3263G:p.S1088W;ENSG00000074657:ENST00000591083:exon8:c.C3263G:p.S1088W;ENSG00000074657:ENST00000591230:exon9:c.C3263G:p.S1088W;ENSG00000074657:ENST00000591808:exon8:c.C3263G:p.S1088W;ENSG00000074657:ENST00000589288:exon8:c.C3263G:p.S1088W;ENSG00000074657:ENST00000586997:exon2:c.C224G:p.S75W;	0.764291397006431	0.458
18	56646399	C	T	18	58979167	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon9:c.C3263T:p.S1088L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon9:c.C3263T:p.S1088L;ENSG00000074657:ENST00000591083:exon8:c.C3263T:p.S1088L;ENSG00000074657:ENST00000591230:exon9:c.C3263T:p.S1088L;ENSG00000074657:ENST00000591808:exon8:c.C3263T:p.S1088L;ENSG00000074657:ENST00000589288:exon8:c.C3263T:p.S1088L;ENSG00000074657:ENST00000586997:exon2:c.C224T:p.S75L;	0.0787332096067808	0.194
18	56646400	G	A	18	58979168	y	y	splicing	ZNF532(NM_018181:exon9:c.3263+1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3263+1G>A;ENST00000591083:exon8:c.3263+1G>A;ENST00000589288:exon8:c.3263+1G>A;ENST00000591230:exon9:c.3263+1G>A;ENST00000591808:exon8:c.3263+1G>A;ENST00000586997:exon2:c.224+1G>A;ENST00000585662:exon4:c.542+1G>A)	.	.	0.999986675681007	0.94
18	56646400	G	C	18	58979168	y	y	splicing	ZNF532(NM_018181:exon9:c.3263+1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3263+1G>C;ENST00000591083:exon8:c.3263+1G>C;ENST00000589288:exon8:c.3263+1G>C;ENST00000591230:exon9:c.3263+1G>C;ENST00000591808:exon8:c.3263+1G>C;ENST00000586997:exon2:c.224+1G>C;ENST00000585662:exon4:c.542+1G>C)	.	.	0.999986675681007	0.94
18	56646400	G	T	18	58979168	y	y	splicing	ZNF532(NM_018181:exon9:c.3263+1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3263+1G>T;ENST00000591083:exon8:c.3263+1G>T;ENST00000589288:exon8:c.3263+1G>T;ENST00000591230:exon9:c.3263+1G>T;ENST00000591808:exon8:c.3263+1G>T;ENST00000586997:exon2:c.224+1G>T;ENST00000585662:exon4:c.542+1G>T)	.	.	0.999986675681007	0.94
18	56646401	T	A	18	58979169	y	y	splicing	ZNF532(NM_018181:exon9:c.3263+2T>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3263+2T>A;ENST00000591083:exon8:c.3263+2T>A;ENST00000589288:exon8:c.3263+2T>A;ENST00000591230:exon9:c.3263+2T>A;ENST00000591808:exon8:c.3263+2T>A;ENST00000586997:exon2:c.224+2T>A;ENST00000585662:exon4:c.542+2T>A)	.	.	0.999989917668626	0.928
18	56646401	T	C	18	58979169	y	y	splicing	ZNF532(NM_018181:exon9:c.3263+2T>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3263+2T>C;ENST00000591083:exon8:c.3263+2T>C;ENST00000589288:exon8:c.3263+2T>C;ENST00000591230:exon9:c.3263+2T>C;ENST00000591808:exon8:c.3263+2T>C;ENST00000586997:exon2:c.224+2T>C;ENST00000585662:exon4:c.542+2T>C)	.	.	0.991781671885672	0.62
18	56646401	T	G	18	58979169	y	y	splicing	ZNF532(NM_018181:exon9:c.3263+2T>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon9:c.3263+2T>G;ENST00000591083:exon8:c.3263+2T>G;ENST00000589288:exon8:c.3263+2T>G;ENST00000591230:exon9:c.3263+2T>G;ENST00000591808:exon8:c.3263+2T>G;ENST00000586997:exon2:c.224+2T>G;ENST00000585662:exon4:c.542+2T>G)	.	.	0.999989917668626	0.928
18	56646402	A	C	18	58979170	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999078200700705	0.916
18	56646402	A	G	18	58979170	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0216230535788032	0.272
18	56646402	A	T	18	58979170	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999888032686782	0.978
18	56646403	A	C	18	58979171	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.997491275430919	0.888
18	56646403	A	G	18	58979171	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.996963777586095	0.982
18	56646403	A	T	18	58979171	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.996354987408558	0.942
18	56646404	G	A	18	58979172	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999975279776261	0.994
18	56646404	G	C	18	58979172	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999973825325258	0.974
18	56646404	G	T	18	58979172	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999968833967818	0.99
18	56646405	T	A	18	58979173	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.972876209505336	0.622
18	56646405	T	C	18	58979173	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.938909775813232	0.67
18	56646405	T	G	18	58979173	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.917199941566778	0.718
18	56646406	C	A	18	58979174	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.59028848257884E-5	0.0
18	56646406	C	G	18	58979174	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.59028848257884E-5	0.0
18	56646406	C	T	18	58979174	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.01691705313247E-4	0.0
18	56646407	C	A	18	58979175	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.46942436491502E-5	0.014
18	56646407	C	G	18	58979175	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.46942436491502E-5	0.014
18	56646407	C	T	18	58979175	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.49425167383999E-5	0.016
18	56648690	T	A	18	58981458	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.79274918831803E-4	0.064
18	56648690	T	C	18	58981458	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.02375947370236E-5	0.004
18	56648690	T	G	18	58981458	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.24920617280417E-4	0.044
18	56648691	T	A	18	58981459	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00650663701751829	0.216
18	56648691	T	C	18	58981459	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.68192955470594E-4	0.052
18	56648691	T	G	18	58981459	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0151423074857771	0.224
18	56648692	C	A	18	58981460	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00162761279337983	0.142
18	56648692	C	G	18	58981460	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.94253265149304E-4	0.004
18	56648692	C	T	18	58981460	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.91266145916482E-5	0.0
18	56648693	A	C	18	58981461	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.18404989230517E-5	0.0
18	56648693	A	G	18	58981461	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.20974072453994E-5	0.0
18	56648693	A	T	18	58981461	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.75693776376732E-5	0.0
18	56648694	C	A	18	58981462	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00249457904799985	0.042
18	56648694	C	G	18	58981462	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999147039124049	0.994
18	56648694	C	T	18	58981462	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.5296444873997E-5	0.004
18	56648695	C	A	18	58981463	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00252034341553788	0.082
18	56648695	C	G	18	58981463	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00261174126276647	0.088
18	56648695	C	T	18	58981463	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.48285675391444E-5	0.002
18	56648696	C	A	18	58981464	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00267496246800041	0.132
18	56648696	C	G	18	58981464	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00307877096675628	0.142
18	56648696	C	T	18	58981464	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.11784747962627E-5	0.004
18	56648697	C	A	18	58981465	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00449328461997178	0.112
18	56648697	C	G	18	58981465	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00682189309779524	0.146
18	56648697	C	T	18	58981465	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.71893345848399E-5	0.008
18	56648698	A	C	18	58981466	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.883741495226E-5	0.002
18	56648698	A	G	18	58981466	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.7241506269904E-5	0.004
18	56648698	A	T	18	58981466	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.97171795456099E-4	0.016
18	56648699	C	A	18	58981467	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.9091620197932	0.758
18	56648699	C	G	18	58981467	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.999316228410803	0.936
18	56648699	C	T	18	58981467	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0503937251838924	0.128
18	56648700	A	C	18	58981468	y	y	splicing	ZNF532(NM_018181:exon10:c.3264-2A>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3264-2A>C;ENST00000591083:exon9:c.3264-2A>C;ENST00000589288:exon9:c.3264-2A>C;ENST00000591230:exon10:c.3264-2A>C;ENST00000591808:exon9:c.3264-2A>C;ENST00000586997:exon3:c.225-2A>C;ENST00000585662:exon5:c.543-2A>C)	.	.	0.999989917668626	0.928
18	56648700	A	G	18	58981468	y	y	splicing	ZNF532(NM_018181:exon10:c.3264-2A>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3264-2A>G;ENST00000591083:exon9:c.3264-2A>G;ENST00000589288:exon9:c.3264-2A>G;ENST00000591230:exon10:c.3264-2A>G;ENST00000591808:exon9:c.3264-2A>G;ENST00000586997:exon3:c.225-2A>G;ENST00000585662:exon5:c.543-2A>G)	.	.	0.999989917668626	0.928
18	56648700	A	T	18	58981468	y	y	splicing	ZNF532(NM_018181:exon10:c.3264-2A>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3264-2A>T;ENST00000591083:exon9:c.3264-2A>T;ENST00000589288:exon9:c.3264-2A>T;ENST00000591230:exon10:c.3264-2A>T;ENST00000591808:exon9:c.3264-2A>T;ENST00000586997:exon3:c.225-2A>T;ENST00000585662:exon5:c.543-2A>T)	.	.	0.999989917668626	0.928
18	56648701	G	A	18	58981469	y	y	splicing	ZNF532(NM_018181:exon10:c.3264-1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3264-1G>A;ENST00000591083:exon9:c.3264-1G>A;ENST00000589288:exon9:c.3264-1G>A;ENST00000591230:exon10:c.3264-1G>A;ENST00000591808:exon9:c.3264-1G>A;ENST00000586997:exon3:c.225-1G>A;ENST00000585662:exon5:c.543-1G>A)	.	.	0.999981760802075	0.944
18	56648701	G	C	18	58981469	y	y	splicing	ZNF532(NM_018181:exon10:c.3264-1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3264-1G>C;ENST00000591083:exon9:c.3264-1G>C;ENST00000589288:exon9:c.3264-1G>C;ENST00000591230:exon10:c.3264-1G>C;ENST00000591808:exon9:c.3264-1G>C;ENST00000586997:exon3:c.225-1G>C;ENST00000585662:exon5:c.543-1G>C)	.	.	0.999981760802075	0.944
18	56648701	G	T	18	58981469	y	y	splicing	ZNF532(NM_018181:exon10:c.3264-1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3264-1G>T;ENST00000591083:exon9:c.3264-1G>T;ENST00000589288:exon9:c.3264-1G>T;ENST00000591230:exon10:c.3264-1G>T;ENST00000591808:exon9:c.3264-1G>T;ENST00000586997:exon3:c.225-1G>T;ENST00000585662:exon5:c.543-1G>T)	.	.	0.999981760802075	0.944
18	56648702	G	A	18	58981470	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon10:c.G3264A:p.S1088S;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.G3264A:p.S1088S;ENSG00000074657:ENST00000591083:exon9:c.G3264A:p.S1088S;ENSG00000074657:ENST00000591230:exon10:c.G3264A:p.S1088S;ENSG00000074657:ENST00000591808:exon9:c.G3264A:p.S1088S;ENSG00000074657:ENST00000589288:exon9:c.G3264A:p.S1088S;ENSG00000074657:ENST00000586997:exon3:c.G225A:p.S75S;	0.274991433069895	0.458
18	56648702	G	C	18	58981470	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon10:c.G3264C:p.S1088S;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.G3264C:p.S1088S;ENSG00000074657:ENST00000591083:exon9:c.G3264C:p.S1088S;ENSG00000074657:ENST00000591230:exon10:c.G3264C:p.S1088S;ENSG00000074657:ENST00000591808:exon9:c.G3264C:p.S1088S;ENSG00000074657:ENST00000589288:exon9:c.G3264C:p.S1088S;ENSG00000074657:ENST00000586997:exon3:c.G225C:p.S75S;	0.883947589960181	0.718
18	56648702	G	T	18	58981470	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon10:c.G3264T:p.S1088S;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.G3264T:p.S1088S;ENSG00000074657:ENST00000591083:exon9:c.G3264T:p.S1088S;ENSG00000074657:ENST00000591230:exon10:c.G3264T:p.S1088S;ENSG00000074657:ENST00000591808:exon9:c.G3264T:p.S1088S;ENSG00000074657:ENST00000589288:exon9:c.G3264T:p.S1088S;ENSG00000074657:ENST00000586997:exon3:c.G225T:p.S75S;	0.965055219130727	0.688
18	56648703	C	A	18	58981471	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.C3265A:p.H1089N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.C3265A:p.H1089N;ENSG00000074657:ENST00000591083:exon9:c.C3265A:p.H1089N;ENSG00000074657:ENST00000591230:exon10:c.C3265A:p.H1089N;ENSG00000074657:ENST00000591808:exon9:c.C3265A:p.H1089N;ENSG00000074657:ENST00000589288:exon9:c.C3265A:p.H1089N;ENSG00000074657:ENST00000586997:exon3:c.C226A:p.H76N;	0.983109028554636	0.86
18	56648703	C	G	18	58981471	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.C3265G:p.H1089D;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.C3265G:p.H1089D;ENSG00000074657:ENST00000591083:exon9:c.C3265G:p.H1089D;ENSG00000074657:ENST00000591230:exon10:c.C3265G:p.H1089D;ENSG00000074657:ENST00000591808:exon9:c.C3265G:p.H1089D;ENSG00000074657:ENST00000589288:exon9:c.C3265G:p.H1089D;ENSG00000074657:ENST00000586997:exon3:c.C226G:p.H76D;	0.96586473740785	0.796
18	56648703	C	T	18	58981471	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.C3265T:p.H1089Y;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.C3265T:p.H1089Y;ENSG00000074657:ENST00000591083:exon9:c.C3265T:p.H1089Y;ENSG00000074657:ENST00000591230:exon10:c.C3265T:p.H1089Y;ENSG00000074657:ENST00000591808:exon9:c.C3265T:p.H1089Y;ENSG00000074657:ENST00000589288:exon9:c.C3265T:p.H1089Y;ENSG00000074657:ENST00000586997:exon3:c.C226T:p.H76Y;	0.00778863577037282	0.03
18	56648847	A	C	18	58981615	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.A3409C:p.K1137Q;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.A3409C:p.K1137Q;ENSG00000074657:ENST00000591083:exon9:c.A3409C:p.K1137Q;ENSG00000074657:ENST00000591230:exon10:c.A3409C:p.K1137Q;ENSG00000074657:ENST00000591808:exon9:c.A3409C:p.K1137Q;ENSG00000074657:ENST00000589288:exon9:c.A3409C:p.K1137Q;ENSG00000074657:ENST00000586997:exon3:c.A370C:p.K124Q;	6.46339465741004E-5	.
18	56648847	A	G	18	58981615	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.A3409G:p.K1137E;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.A3409G:p.K1137E;ENSG00000074657:ENST00000591083:exon9:c.A3409G:p.K1137E;ENSG00000074657:ENST00000591230:exon10:c.A3409G:p.K1137E;ENSG00000074657:ENST00000591808:exon9:c.A3409G:p.K1137E;ENSG00000074657:ENST00000589288:exon9:c.A3409G:p.K1137E;ENSG00000074657:ENST00000586997:exon3:c.A370G:p.K124E;	7.27557594119867E-4	.
18	56648847	A	T	18	58981615	y	y	exonic	ZNF532	stopgain SNV	ZNF532:NM_018181:exon10:c.A3409T:p.K1137X;	exonic	ENSG00000074657	stopgain SNV	ENSG00000074657:ENST00000336078:exon10:c.A3409T:p.K1137X;ENSG00000074657:ENST00000591083:exon9:c.A3409T:p.K1137X;ENSG00000074657:ENST00000591230:exon10:c.A3409T:p.K1137X;ENSG00000074657:ENST00000591808:exon9:c.A3409T:p.K1137X;ENSG00000074657:ENST00000589288:exon9:c.A3409T:p.K1137X;ENSG00000074657:ENST00000586997:exon3:c.A370T:p.K124X;	0.733614692242596	.
18	56648848	A	C	18	58981616	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.A3410C:p.K1137T;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.A3410C:p.K1137T;ENSG00000074657:ENST00000591083:exon9:c.A3410C:p.K1137T;ENSG00000074657:ENST00000591230:exon10:c.A3410C:p.K1137T;ENSG00000074657:ENST00000591808:exon9:c.A3410C:p.K1137T;ENSG00000074657:ENST00000589288:exon9:c.A3410C:p.K1137T;ENSG00000074657:ENST00000586997:exon3:c.A371C:p.K124T;	0.998447337537649	.
18	56648848	A	G	18	58981616	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.A3410G:p.K1137R;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.A3410G:p.K1137R;ENSG00000074657:ENST00000591083:exon9:c.A3410G:p.K1137R;ENSG00000074657:ENST00000591230:exon10:c.A3410G:p.K1137R;ENSG00000074657:ENST00000591808:exon9:c.A3410G:p.K1137R;ENSG00000074657:ENST00000589288:exon9:c.A3410G:p.K1137R;ENSG00000074657:ENST00000586997:exon3:c.A371G:p.K124R;	0.996535774759392	.
18	56648848	A	T	18	58981616	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.A3410T:p.K1137M;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.A3410T:p.K1137M;ENSG00000074657:ENST00000591083:exon9:c.A3410T:p.K1137M;ENSG00000074657:ENST00000591230:exon10:c.A3410T:p.K1137M;ENSG00000074657:ENST00000591808:exon9:c.A3410T:p.K1137M;ENSG00000074657:ENST00000589288:exon9:c.A3410T:p.K1137M;ENSG00000074657:ENST00000586997:exon3:c.A371T:p.K124M;	0.999153652577694	.
18	56648849	G	A	18	58981617	y	y	exonic	ZNF532	synonymous SNV	ZNF532:NM_018181:exon10:c.G3411A:p.K1137K;	exonic	ENSG00000074657	synonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.G3411A:p.K1137K;ENSG00000074657:ENST00000591083:exon9:c.G3411A:p.K1137K;ENSG00000074657:ENST00000591230:exon10:c.G3411A:p.K1137K;ENSG00000074657:ENST00000591808:exon9:c.G3411A:p.K1137K;ENSG00000074657:ENST00000589288:exon9:c.G3411A:p.K1137K;ENSG00000074657:ENST00000586997:exon3:c.G372A:p.K124K;	0.998321739012059	.
18	56648849	G	C	18	58981617	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.G3411C:p.K1137N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.G3411C:p.K1137N;ENSG00000074657:ENST00000591083:exon9:c.G3411C:p.K1137N;ENSG00000074657:ENST00000591230:exon10:c.G3411C:p.K1137N;ENSG00000074657:ENST00000591808:exon9:c.G3411C:p.K1137N;ENSG00000074657:ENST00000589288:exon9:c.G3411C:p.K1137N;ENSG00000074657:ENST00000586997:exon3:c.G372C:p.K124N;	0.999889909534992	.
18	56648849	G	T	18	58981617	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon10:c.G3411T:p.K1137N;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon10:c.G3411T:p.K1137N;ENSG00000074657:ENST00000591083:exon9:c.G3411T:p.K1137N;ENSG00000074657:ENST00000591230:exon10:c.G3411T:p.K1137N;ENSG00000074657:ENST00000591808:exon9:c.G3411T:p.K1137N;ENSG00000074657:ENST00000589288:exon9:c.G3411T:p.K1137N;ENSG00000074657:ENST00000586997:exon3:c.G372T:p.K124N;	0.999797052761553	.
18	56648850	G	A	18	58981618	y	y	splicing	ZNF532(NM_018181:exon10:c.3411+1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3411+1G>A;ENST00000591083:exon9:c.3411+1G>A;ENST00000589288:exon9:c.3411+1G>A;ENST00000591230:exon10:c.3411+1G>A;ENST00000591808:exon9:c.3411+1G>A)	.	.	0.999697368980254	.
18	56648850	G	C	18	58981618	y	y	splicing	ZNF532(NM_018181:exon10:c.3411+1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3411+1G>C;ENST00000591083:exon9:c.3411+1G>C;ENST00000589288:exon9:c.3411+1G>C;ENST00000591230:exon10:c.3411+1G>C;ENST00000591808:exon9:c.3411+1G>C)	.	.	0.999697368980254	.
18	56648850	G	T	18	58981618	y	y	splicing	ZNF532(NM_018181:exon10:c.3411+1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3411+1G>T;ENST00000591083:exon9:c.3411+1G>T;ENST00000589288:exon9:c.3411+1G>T;ENST00000591230:exon10:c.3411+1G>T;ENST00000591808:exon9:c.3411+1G>T)	.	.	0.999697368980254	.
18	56648851	T	A	18	58981619	y	y	splicing	ZNF532(NM_018181:exon10:c.3411+2T>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3411+2T>A;ENST00000591083:exon9:c.3411+2T>A;ENST00000589288:exon9:c.3411+2T>A;ENST00000591230:exon10:c.3411+2T>A;ENST00000591808:exon9:c.3411+2T>A)	.	.	0.999918281598377	.
18	56648851	T	C	18	58981619	y	y	splicing	ZNF532(NM_018181:exon10:c.3411+2T>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3411+2T>C;ENST00000591083:exon9:c.3411+2T>C;ENST00000589288:exon9:c.3411+2T>C;ENST00000591230:exon10:c.3411+2T>C;ENST00000591808:exon9:c.3411+2T>C)	.	.	0.994014394015545	.
18	56648851	T	G	18	58981619	y	y	splicing	ZNF532(NM_018181:exon10:c.3411+2T>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon10:c.3411+2T>G;ENST00000591083:exon9:c.3411+2T>G;ENST00000589288:exon9:c.3411+2T>G;ENST00000591230:exon10:c.3411+2T>G;ENST00000591808:exon9:c.3411+2T>G)	.	.	0.99991612426918	.
18	56648852	C	A	18	58981620	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.17976748207861E-4	.
18	56648852	C	G	18	58981620	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.97749483118709E-5	.
18	56648852	C	T	18	58981620	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.57013735458884E-5	.
18	56648853	T	A	18	58981621	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.66922426065072E-5	.
18	56648853	T	C	18	58981621	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.22535591821424E-5	.
18	56648853	T	G	18	58981621	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.21225501681066E-5	.
18	56648854	A	C	18	58981622	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	7.3058697038838E-5	.
18	56648854	A	G	18	58981622	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.48965488304082E-5	.
18	56648854	A	T	18	58981622	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.06380789469107E-5	.
18	56648855	A	C	18	58981623	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.88035030209413E-5	.
18	56648855	A	G	18	58981623	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.26317170929876E-5	.
18	56648855	A	T	18	58981623	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.07923227999551E-5	.
18	56648856	C	A	18	58981624	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.034536233321384	.
18	56648856	C	G	18	58981624	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.0103890868467636	.
18	56648856	C	T	18	58981624	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.034536233321384	.
18	56648857	A	C	18	58981625	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.15125035961338E-5	.
18	56648857	A	G	18	58981625	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.15125035961338E-5	.
18	56648857	A	T	18	58981625	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.96323034491673E-5	.
18	56651192	T	A	18	58983960	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.69894406422748E-4	0.068
18	56651192	T	C	18	58983960	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.15701459805108E-5	0.0
18	56651192	T	G	18	58983960	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.26374109553925E-4	0.054
18	56651193	T	A	18	58983961	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00618544490738354	0.186
18	56651193	T	C	18	58983961	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.08184524752635E-4	0.056
18	56651193	T	G	18	58983961	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00305606688371036	0.146
18	56651194	T	A	18	58983962	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00605586418491498	0.184
18	56651194	T	C	18	58983962	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.23258512203247E-4	0.012
18	56651194	T	G	18	58983962	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00142393976907576	0.178
18	56651195	C	A	18	58983963	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00423264020285844	0.036
18	56651195	C	G	18	58983963	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.19160432483242E-4	0.018
18	56651195	C	T	18	58983963	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.05059111188853E-5	0.0
18	56651196	C	A	18	58983964	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	5.90232110058004E-4	0.048
18	56651196	C	G	18	58983964	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00124932585893912	0.038
18	56651196	C	T	18	58983964	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.56501946247495E-5	0.0
18	56651197	C	A	18	58983965	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	8.12775491739623E-4	0.064
18	56651197	C	G	18	58983965	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.00231647105025456	0.074
18	56651197	C	T	18	58983965	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.47168407442677E-4	0.004
18	56651198	T	A	18	58983966	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.990079373941485	0.894
18	56651198	T	C	18	58983966	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.58571245873557E-5	0.004
18	56651198	T	G	18	58983966	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	9.07621810935828E-4	0.064
18	56651199	G	A	18	58983967	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.20896670787425E-5	0.008
18	56651199	G	C	18	58983967	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	4.36420403787442E-6	0.0
18	56651199	G	T	18	58983967	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.10469533991097E-6	0.004
18	56651200	A	C	18	58983968	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.82984773749831E-5	0.042
18	56651200	A	G	18	58983968	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	2.26572126446809E-5	0.006
18	56651200	A	T	18	58983968	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	3.28646463822125E-5	0.016
18	56651201	A	C	18	58983969	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	1.00023572556992E-4	0.038
18	56651201	A	G	18	58983969	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	0.2146080035734	0.336
18	56651201	A	T	18	58983969	y	y	intronic	ZNF532	.	.	intronic	ENSG00000074657	.	.	6.37757398106261E-5	0.03
18	56651202	A	C	18	58983970	y	y	splicing	ZNF532(NM_018181:exon11:c.3412-2A>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon11:c.3412-2A>C;ENST00000591083:exon10:c.3412-2A>C;ENST00000589288:exon10:c.3412-2A>C;ENST00000591230:exon11:c.3412-2A>C;ENST00000591808:exon10:c.3412-2A>C)	.	.	0.999988247793601	0.932
18	56651202	A	G	18	58983970	y	y	splicing	ZNF532(NM_018181:exon11:c.3412-2A>G)	.	.	splicing	ENSG00000074657(ENST00000336078:exon11:c.3412-2A>G;ENST00000591083:exon10:c.3412-2A>G;ENST00000589288:exon10:c.3412-2A>G;ENST00000591230:exon11:c.3412-2A>G;ENST00000591808:exon10:c.3412-2A>G)	.	.	0.999988247793601	0.932
18	56651202	A	T	18	58983970	y	y	splicing	ZNF532(NM_018181:exon11:c.3412-2A>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon11:c.3412-2A>T;ENST00000591083:exon10:c.3412-2A>T;ENST00000589288:exon10:c.3412-2A>T;ENST00000591230:exon11:c.3412-2A>T;ENST00000591808:exon10:c.3412-2A>T)	.	.	0.999988247793601	0.932
18	56651203	G	A	18	58983971	y	y	splicing	ZNF532(NM_018181:exon11:c.3412-1G>A)	.	.	splicing	ENSG00000074657(ENST00000336078:exon11:c.3412-1G>A;ENST00000591083:exon10:c.3412-1G>A;ENST00000589288:exon10:c.3412-1G>A;ENST00000591230:exon11:c.3412-1G>A;ENST00000591808:exon10:c.3412-1G>A)	.	.	0.999989072007339	0.934
18	56651203	G	C	18	58983971	y	y	splicing	ZNF532(NM_018181:exon11:c.3412-1G>C)	.	.	splicing	ENSG00000074657(ENST00000336078:exon11:c.3412-1G>C;ENST00000591083:exon10:c.3412-1G>C;ENST00000589288:exon10:c.3412-1G>C;ENST00000591230:exon11:c.3412-1G>C;ENST00000591808:exon10:c.3412-1G>C)	.	.	0.999989072007339	0.934
18	56651203	G	T	18	58983971	y	y	splicing	ZNF532(NM_018181:exon11:c.3412-1G>T)	.	.	splicing	ENSG00000074657(ENST00000336078:exon11:c.3412-1G>T;ENST00000591083:exon10:c.3412-1G>T;ENST00000589288:exon10:c.3412-1G>T;ENST00000591230:exon11:c.3412-1G>T;ENST00000591808:exon10:c.3412-1G>T)	.	.	0.999989072007339	0.934
18	56651204	G	A	18	58983972	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon11:c.G3412A:p.V1138I;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon11:c.G3412A:p.V1138I;ENSG00000074657:ENST00000591083:exon10:c.G3412A:p.V1138I;ENSG00000074657:ENST00000591230:exon11:c.G3412A:p.V1138I;ENSG00000074657:ENST00000591808:exon10:c.G3412A:p.V1138I;ENSG00000074657:ENST00000589288:exon10:c.G3412A:p.V1138I;	0.999598232371744	0.932
18	56651204	G	C	18	58983972	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon11:c.G3412C:p.V1138L;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon11:c.G3412C:p.V1138L;ENSG00000074657:ENST00000591083:exon10:c.G3412C:p.V1138L;ENSG00000074657:ENST00000591230:exon11:c.G3412C:p.V1138L;ENSG00000074657:ENST00000591808:exon10:c.G3412C:p.V1138L;ENSG00000074657:ENST00000589288:exon10:c.G3412C:p.V1138L;	0.999552593720178	0.974
18	56651204	G	T	18	58983972	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon11:c.G3412T:p.V1138F;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon11:c.G3412T:p.V1138F;ENSG00000074657:ENST00000591083:exon10:c.G3412T:p.V1138F;ENSG00000074657:ENST00000591230:exon11:c.G3412T:p.V1138F;ENSG00000074657:ENST00000591808:exon10:c.G3412T:p.V1138F;ENSG00000074657:ENST00000589288:exon10:c.G3412T:p.V1138F;	0.99981156732536	0.988
18	56651205	T	A	18	58983973	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon11:c.T3413A:p.V1138D;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon11:c.T3413A:p.V1138D;ENSG00000074657:ENST00000591083:exon10:c.T3413A:p.V1138D;ENSG00000074657:ENST00000591230:exon11:c.T3413A:p.V1138D;ENSG00000074657:ENST00000591808:exon10:c.T3413A:p.V1138D;ENSG00000074657:ENST00000589288:exon10:c.T3413A:p.V1138D;	6.14723644999014E-5	0.086
18	56651205	T	C	18	58983973	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon11:c.T3413C:p.V1138A;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon11:c.T3413C:p.V1138A;ENSG00000074657:ENST00000591083:exon10:c.T3413C:p.V1138A;ENSG00000074657:ENST00000591230:exon11:c.T3413C:p.V1138A;ENSG00000074657:ENST00000591808:exon10:c.T3413C:p.V1138A;ENSG00000074657:ENST00000589288:exon10:c.T3413C:p.V1138A;	8.60169859467976E-4	0.058
18	56651205	T	G	18	58983973	y	y	exonic	ZNF532	nonsynonymous SNV	ZNF532:NM_018181:exon11:c.T3413G:p.V1138G;	exonic	ENSG00000074657	nonsynonymous SNV	ENSG00000074657:ENST00000336078:exon11:c.T3413G:p.V1138G;ENSG00000074657:ENST00000591083:exon10:c.T3413G:p.V1138G;ENSG00000074657:ENST00000591230:exon11:c.T3413G:p.V1138G;ENSG00000074657:ENST00000591808:exon10:c.T3413G:p.V1138G;ENSG00000074657:ENST00000589288:exon10:c.T3413G:p.V1138G;	0.00156903033301647	0.066
18	56807265	C	A	18	59140033	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon1:c.C85A:p.Q29K;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon1:c.C85A:p.Q29K;ENSG00000166562:ENST00000587834:exon1:c.C85A:p.Q29K;ENSG00000166562:ENST00000299714:exon1:c.C85A:p.Q29K;	0.0648638528345171	0.322
18	56807265	C	G	18	59140033	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon1:c.C85G:p.Q29E;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon1:c.C85G:p.Q29E;ENSG00000166562:ENST00000587834:exon1:c.C85G:p.Q29E;ENSG00000166562:ENST00000299714:exon1:c.C85G:p.Q29E;	0.122633609040091	0.312
18	56807265	C	T	18	59140033	y	y	exonic	SEC11C	stopgain SNV	SEC11C:NM_033280:exon1:c.C85T:p.Q29X;	exonic	ENSG00000166562	stopgain SNV	ENSG00000166562:ENST00000588875:exon1:c.C85T:p.Q29X;ENSG00000166562:ENST00000587834:exon1:c.C85T:p.Q29X;ENSG00000166562:ENST00000299714:exon1:c.C85T:p.Q29X;	0.987228061678928	0.864
18	56807266	A	C	18	59140034	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon1:c.A86C:p.Q29P;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon1:c.A86C:p.Q29P;ENSG00000166562:ENST00000587834:exon1:c.A86C:p.Q29P;ENSG00000166562:ENST00000299714:exon1:c.A86C:p.Q29P;	0.999919196145888	0.998
18	56807266	A	G	18	59140034	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon1:c.A86G:p.Q29R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon1:c.A86G:p.Q29R;ENSG00000166562:ENST00000587834:exon1:c.A86G:p.Q29R;ENSG00000166562:ENST00000299714:exon1:c.A86G:p.Q29R;	0.999942055450818	0.948
18	56807266	A	T	18	59140034	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon1:c.A86T:p.Q29L;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon1:c.A86T:p.Q29L;ENSG00000166562:ENST00000587834:exon1:c.A86T:p.Q29L;ENSG00000166562:ENST00000299714:exon1:c.A86T:p.Q29L;	0.999954730511286	0.956
18	56807267	G	A	18	59140035	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon1:c.G87A:p.Q29Q;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000588875:exon1:c.G87A:p.Q29Q;ENSG00000166562:ENST00000587834:exon1:c.G87A:p.Q29Q;ENSG00000166562:ENST00000299714:exon1:c.G87A:p.Q29Q;	0.999997364018108	1.0
18	56807267	G	C	18	59140035	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon1:c.G87C:p.Q29H;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon1:c.G87C:p.Q29H;ENSG00000166562:ENST00000587834:exon1:c.G87C:p.Q29H;ENSG00000166562:ENST00000299714:exon1:c.G87C:p.Q29H;	0.999997643939171	1.0
18	56807267	G	T	18	59140035	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon1:c.G87T:p.Q29H;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon1:c.G87T:p.Q29H;ENSG00000166562:ENST00000587834:exon1:c.G87T:p.Q29H;ENSG00000166562:ENST00000299714:exon1:c.G87T:p.Q29H;	0.999994183668614	0.942
18	56807268	G	A	18	59140036	y	y	splicing	SEC11C(NM_033280:exon1:c.87+1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon1:c.87+1G>A;ENST00000299714:exon1:c.87+1G>A;ENST00000588875:exon1:c.87+1G>A)	.	.	0.999984967332678	0.932
18	56807268	G	C	18	59140036	y	y	splicing	SEC11C(NM_033280:exon1:c.87+1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon1:c.87+1G>C;ENST00000299714:exon1:c.87+1G>C;ENST00000588875:exon1:c.87+1G>C)	.	.	0.999984967332678	0.932
18	56807268	G	T	18	59140036	y	y	splicing	SEC11C(NM_033280:exon1:c.87+1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon1:c.87+1G>T;ENST00000299714:exon1:c.87+1G>T;ENST00000588875:exon1:c.87+1G>T)	.	.	0.999984967332678	0.932
18	56807269	T	A	18	59140037	y	y	splicing	SEC11C(NM_033280:exon1:c.87+2T>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon1:c.87+2T>A;ENST00000299714:exon1:c.87+2T>A;ENST00000588875:exon1:c.87+2T>A)	.	.	0.999986741007567	0.934
18	56807269	T	C	18	59140037	y	y	splicing	SEC11C(NM_033280:exon1:c.87+2T>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon1:c.87+2T>C;ENST00000299714:exon1:c.87+2T>C;ENST00000588875:exon1:c.87+2T>C)	.	.	0.999939843460934	0.878
18	56807269	T	G	18	59140037	y	y	splicing	SEC11C(NM_033280:exon1:c.87+2T>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon1:c.87+2T>G;ENST00000299714:exon1:c.87+2T>G;ENST00000588875:exon1:c.87+2T>G)	.	.	0.999986741007567	0.934
18	56807270	G	A	18	59140038	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.1770937871758E-4	0.034
18	56807270	G	C	18	59140038	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.505305701546609	0.544
18	56807270	G	T	18	59140038	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.947880268030208	0.592
18	56807271	A	C	18	59140039	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.518027237689915	0.472
18	56807271	A	G	18	59140039	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.978406488240896	0.764
18	56807271	A	T	18	59140039	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.976627090233846	0.672
18	56807272	C	A	18	59140040	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.65819765284325E-4	0.104
18	56807272	C	G	18	59140040	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.83138854470447E-4	0.06
18	56807272	C	T	18	59140040	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00125828382152045	0.072
18	56807273	G	A	18	59140041	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	5.12584687963336E-5	0.012
18	56807273	G	C	18	59140041	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.4277155915396E-5	0.016
18	56807273	G	T	18	59140041	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.59799801167055E-5	0.002
18	56807274	G	A	18	59140042	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0010787508371094	0.026
18	56807274	G	C	18	59140042	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	5.72731404120579E-4	0.01
18	56807274	G	T	18	59140042	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	4.76890480675441E-4	0.014
18	56807275	A	C	18	59140043	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	4.47239071077134E-4	0.024
18	56807275	A	G	18	59140043	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	5.04019891604668E-4	0.012
18	56807275	A	T	18	59140043	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	4.91628017204037E-4	0.006
18	56816733	T	A	18	59149501	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00233815659400365	0.1
18	56816733	T	C	18	59149501	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.96280978787644E-4	0.014
18	56816733	T	G	18	59149501	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0011377852059009	0.146
18	56816734	T	A	18	59149502	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00797075875761391	0.246
18	56816734	T	C	18	59149502	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00161763736865394	0.08
18	56816734	T	G	18	59149502	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00876318771955895	0.24
18	56816735	T	A	18	59149503	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.68044192476789E-4	0.08
18	56816735	T	C	18	59149503	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	5.19071123488787E-5	0.008
18	56816735	T	G	18	59149503	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.46194178736002E-4	0.078
18	56816736	T	A	18	59149504	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00174939872989987	0.104
18	56816736	T	C	18	59149504	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.2580836165831E-4	0.01
18	56816736	T	G	18	59149504	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	7.55451035595009E-4	0.154
18	56816737	C	A	18	59149505	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	4.24905949538156E-4	0.016
18	56816737	C	G	18	59149505	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.10899210564157E-4	0.016
18	56816737	C	T	18	59149505	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.40328622298533E-5	0.0
18	56816738	A	C	18	59149506	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	9.36445945918201E-6	0.0
18	56816738	A	G	18	59149506	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.7773418989004E-5	0.0
18	56816738	A	T	18	59149506	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.01296319532852E-5	0.0
18	56816739	T	A	18	59149507	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0106623053411514	0.21
18	56816739	T	C	18	59149507	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.99841224920552E-4	0.048
18	56816739	T	G	18	59149507	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999754131748959	0.926
18	56816740	T	A	18	59149508	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00287623872229663	0.17
18	56816740	T	C	18	59149508	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00118610021943773	0.128
18	56816740	T	G	18	59149508	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	9.7002342883669E-4	0.104
18	56816741	C	A	18	59149509	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.93739961150914E-5	0.0
18	56816741	C	G	18	59149509	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	4.44046268098345E-5	0.0
18	56816741	C	T	18	59149509	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.93739961150914E-5	0.0
18	56816742	C	A	18	59149510	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.681617574707093	0.574
18	56816742	C	G	18	59149510	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.992523390990199	0.908
18	56816742	C	T	18	59149510	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0263687016780929	0.212
18	56816743	A	C	18	59149511	y	y	splicing	SEC11C(NM_033280:exon2:c.88-2A>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.88-2A>C;ENST00000299714:exon2:c.88-2A>C;ENST00000588875:exon2:c.88-2A>C)	.	.	0.99994568797423	0.932
18	56816743	A	G	18	59149511	y	y	splicing	SEC11C(NM_033280:exon2:c.88-2A>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.88-2A>G;ENST00000299714:exon2:c.88-2A>G;ENST00000588875:exon2:c.88-2A>G)	.	.	0.99994568797423	0.934
18	56816743	A	T	18	59149511	y	y	splicing	SEC11C(NM_033280:exon2:c.88-2A>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.88-2A>T;ENST00000299714:exon2:c.88-2A>T;ENST00000588875:exon2:c.88-2A>T)	.	.	0.99994568797423	0.926
18	56816744	G	A	18	59149512	y	y	splicing	SEC11C(NM_033280:exon2:c.88-1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.88-1G>A;ENST00000299714:exon2:c.88-1G>A;ENST00000588875:exon2:c.88-1G>A)	.	.	0.999945806335606	0.922
18	56816744	G	C	18	59149512	y	y	splicing	SEC11C(NM_033280:exon2:c.88-1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.88-1G>C;ENST00000299714:exon2:c.88-1G>C;ENST00000588875:exon2:c.88-1G>C)	.	.	0.999945806335606	0.912
18	56816744	G	T	18	59149512	y	y	splicing	SEC11C(NM_033280:exon2:c.88-1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.88-1G>T;ENST00000299714:exon2:c.88-1G>T;ENST00000588875:exon2:c.88-1G>T)	.	.	0.999945806335606	0.918
18	56816745	C	A	18	59149513	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.C88A:p.L30I;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.C88A:p.L30I;ENSG00000166562:ENST00000587834:exon2:c.C88A:p.L30I;ENSG00000166562:ENST00000299714:exon2:c.C88A:p.L30I;	0.29127041128059	0.296
18	56816745	C	G	18	59149513	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.C88G:p.L30V;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.C88G:p.L30V;ENSG00000166562:ENST00000587834:exon2:c.C88G:p.L30V;ENSG00000166562:ENST00000299714:exon2:c.C88G:p.L30V;	0.00500852722510131	0.082
18	56816745	C	T	18	59149513	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.C88T:p.L30F;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.C88T:p.L30F;ENSG00000166562:ENST00000587834:exon2:c.C88T:p.L30F;ENSG00000166562:ENST00000299714:exon2:c.C88T:p.L30F;	0.147530933591905	0.336
18	56816746	T	A	18	59149514	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.T89A:p.L30H;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.T89A:p.L30H;ENSG00000166562:ENST00000587834:exon2:c.T89A:p.L30H;ENSG00000166562:ENST00000299714:exon2:c.T89A:p.L30H;	0.181761072045722	0.446
18	56816746	T	C	18	59149514	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.T89C:p.L30P;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.T89C:p.L30P;ENSG00000166562:ENST00000587834:exon2:c.T89C:p.L30P;ENSG00000166562:ENST00000299714:exon2:c.T89C:p.L30P;	0.267380597680122	0.494
18	56816746	T	G	18	59149514	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.T89G:p.L30R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.T89G:p.L30R;ENSG00000166562:ENST00000587834:exon2:c.T89G:p.L30R;ENSG00000166562:ENST00000299714:exon2:c.T89G:p.L30R;	0.251819893410012	0.49
18	56816852	G	A	18	59149620	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon2:c.G195A:p.L65L;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.G195A:p.L65L;ENSG00000166562:ENST00000587834:exon2:c.G195A:p.L65L;ENSG00000166562:ENST00000299714:exon2:c.G195A:p.L65L;	5.29723668846666E-5	0.002
18	56816852	G	C	18	59149620	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon2:c.G195C:p.L65L;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.G195C:p.L65L;ENSG00000166562:ENST00000587834:exon2:c.G195C:p.L65L;ENSG00000166562:ENST00000299714:exon2:c.G195C:p.L65L;	5.32399041726656E-5	0.006
18	56816852	G	T	18	59149620	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon2:c.G195T:p.L65L;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.G195T:p.L65L;ENSG00000166562:ENST00000587834:exon2:c.G195T:p.L65L;ENSG00000166562:ENST00000299714:exon2:c.G195T:p.L65L;	0.00112311821146528	0.074
18	56816853	A	C	18	59149621	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.A196C:p.S66R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.A196C:p.S66R;ENSG00000166562:ENST00000587834:exon2:c.A196C:p.S66R;ENSG00000166562:ENST00000299714:exon2:c.A196C:p.S66R;	0.995609482917382	0.91
18	56816853	A	G	18	59149621	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.A196G:p.S66G;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.A196G:p.S66G;ENSG00000166562:ENST00000587834:exon2:c.A196G:p.S66G;ENSG00000166562:ENST00000299714:exon2:c.A196G:p.S66G;	0.999756425681353	0.988
18	56816853	A	T	18	59149621	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.A196T:p.S66C;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.A196T:p.S66C;ENSG00000166562:ENST00000587834:exon2:c.A196T:p.S66C;ENSG00000166562:ENST00000299714:exon2:c.A196T:p.S66C;	0.999630538955969	0.978
18	56816854	G	A	18	59149622	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.G197A:p.S66N;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.G197A:p.S66N;ENSG00000166562:ENST00000587834:exon2:c.G197A:p.S66N;ENSG00000166562:ENST00000299714:exon2:c.G197A:p.S66N;	0.999960057433926	0.986
18	56816854	G	C	18	59149622	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.G197C:p.S66T;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.G197C:p.S66T;ENSG00000166562:ENST00000587834:exon2:c.G197C:p.S66T;ENSG00000166562:ENST00000299714:exon2:c.G197C:p.S66T;	0.999967679849292	0.954
18	56816854	G	T	18	59149622	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon2:c.G197T:p.S66I;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon2:c.G197T:p.S66I;ENSG00000166562:ENST00000587834:exon2:c.G197T:p.S66I;ENSG00000166562:ENST00000299714:exon2:c.G197T:p.S66I;	0.999963205562289	0.988
18	56816855	G	A	18	59149623	y	y	splicing	SEC11C(NM_033280:exon2:c.197+1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.197+1G>A;ENST00000299714:exon2:c.197+1G>A;ENST00000588875:exon2:c.197+1G>A)	.	.	0.999988247793601	0.92
18	56816855	G	C	18	59149623	y	y	splicing	SEC11C(NM_033280:exon2:c.197+1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.197+1G>C;ENST00000299714:exon2:c.197+1G>C;ENST00000588875:exon2:c.197+1G>C)	.	.	0.999988247793601	0.92
18	56816855	G	T	18	59149623	y	y	splicing	SEC11C(NM_033280:exon2:c.197+1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.197+1G>T;ENST00000299714:exon2:c.197+1G>T;ENST00000588875:exon2:c.197+1G>T)	.	.	0.999988247793601	0.92
18	56816856	T	A	18	59149624	y	y	splicing	SEC11C(NM_033280:exon2:c.197+2T>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.197+2T>A;ENST00000299714:exon2:c.197+2T>A;ENST00000588875:exon2:c.197+2T>A)	.	.	0.999986472513537	0.928
18	56816856	T	C	18	59149624	y	y	splicing	SEC11C(NM_033280:exon2:c.197+2T>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.197+2T>C;ENST00000299714:exon2:c.197+2T>C;ENST00000588875:exon2:c.197+2T>C)	.	.	0.993637858996175	0.624
18	56816856	T	G	18	59149624	y	y	splicing	SEC11C(NM_033280:exon2:c.197+2T>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon2:c.197+2T>G;ENST00000299714:exon2:c.197+2T>G;ENST00000588875:exon2:c.197+2T>G)	.	.	0.999986472513537	0.926
18	56816857	A	C	18	59149625	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.712966172068719	0.426
18	56816857	A	G	18	59149625	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00773246988735385	0.104
18	56816857	A	T	18	59149625	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.696027594734656	0.452
18	56816858	G	A	18	59149626	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.43397305875818E-4	0.076
18	56816858	G	C	18	59149626	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	6.6237820442327E-5	0.004
18	56816858	G	T	18	59149626	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.20387465176282E-4	0.006
18	56816859	G	A	18	59149627	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.987976558355215	0.796
18	56816859	G	C	18	59149627	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.99927579101663	0.884
18	56816859	G	T	18	59149627	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.996155944112141	0.786
18	56816860	T	A	18	59149628	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.017965850241767	0.224
18	56816860	T	C	18	59149628	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0207359047366528	0.276
18	56816860	T	G	18	59149628	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00751889570017171	0.236
18	56816861	C	A	18	59149629	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.68670476450795E-5	0.0
18	56816861	C	G	18	59149629	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.52687949622929E-5	0.0
18	56816861	C	T	18	59149629	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.28181895387254E-5	0.0
18	56816862	C	A	18	59149630	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.78596454976996E-5	0.0
18	56816862	C	G	18	59149630	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.03158250618069E-5	0.006
18	56816862	C	T	18	59149630	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.41619549405093E-5	0.0
18	56819756	G	A	18	59152524	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.973165877058542	0.718
18	56819756	G	C	18	59152524	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.975909266589091	0.726
18	56819756	G	T	18	59152524	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.919778379541584	0.632
18	56819757	C	A	18	59152525	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00111803619815997	0.132
18	56819757	C	G	18	59152525	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00208369053287408	0.19
18	56819757	C	T	18	59152525	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	4.94699928824255E-5	0.0
18	56819758	T	A	18	59152526	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.923361193289307	0.6
18	56819758	T	C	18	59152526	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.20936074366439E-4	0.016
18	56819758	T	G	18	59152526	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.547914348108889	0.472
18	56819759	T	A	18	59152527	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999650401969034	0.894
18	56819759	T	C	18	59152527	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.607656000508244	0.41
18	56819759	T	G	18	59152527	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.99921879035009	0.88
18	56819760	C	A	18	59152528	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.279625215307774	0.362
18	56819760	C	G	18	59152528	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.100685652230681	0.324
18	56819760	C	T	18	59152528	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00183474411235667	0.046
18	56819761	T	A	18	59152529	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0838129694316309	0.264
18	56819761	T	C	18	59152529	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.07512148635332E-5	0.006
18	56819761	T	G	18	59152529	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0480545178726728	0.298
18	56819762	T	A	18	59152530	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.574556019014718	0.638
18	56819762	T	C	18	59152530	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.69422603897095E-4	0.004
18	56819762	T	G	18	59152530	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.828877026683198	0.724
18	56819763	T	A	18	59152531	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.166912866998998	0.594
18	56819763	T	C	18	59152531	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.023413641578295	0.162
18	56819763	T	G	18	59152531	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.226480155292524	0.628
18	56819764	C	A	18	59152532	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.62905296669689E-4	0.002
18	56819764	C	G	18	59152532	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.61855748986644E-4	0.004
18	56819764	C	T	18	59152532	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	7.77011869266088E-5	0.004
18	56819765	C	A	18	59152533	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.145607094354452	0.28
18	56819765	C	G	18	59152533	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.986076726367374	0.678
18	56819765	C	T	18	59152533	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	9.83884592379448E-5	0.006
18	56819766	A	C	18	59152534	y	y	splicing	SEC11C(NM_033280:exon3:c.198-2A>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.198-2A>C;ENST00000299714:exon3:c.198-2A>C;ENST00000588875:exon3:c.198-2A>C)	.	.	0.999988247793601	0.93
18	56819766	A	G	18	59152534	y	y	splicing	SEC11C(NM_033280:exon3:c.198-2A>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.198-2A>G;ENST00000299714:exon3:c.198-2A>G;ENST00000588875:exon3:c.198-2A>G)	.	.	0.999988247793601	0.93
18	56819766	A	T	18	59152534	y	y	splicing	SEC11C(NM_033280:exon3:c.198-2A>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.198-2A>T;ENST00000299714:exon3:c.198-2A>T;ENST00000588875:exon3:c.198-2A>T)	.	.	0.999988247793601	0.93
18	56819767	G	A	18	59152535	y	y	splicing	SEC11C(NM_033280:exon3:c.198-1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.198-1G>A;ENST00000299714:exon3:c.198-1G>A;ENST00000588875:exon3:c.198-1G>A)	.	.	0.999990361384395	0.938
18	56819767	G	C	18	59152535	y	y	splicing	SEC11C(NM_033280:exon3:c.198-1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.198-1G>C;ENST00000299714:exon3:c.198-1G>C;ENST00000588875:exon3:c.198-1G>C)	.	.	0.999990361384395	0.938
18	56819767	G	T	18	59152535	y	y	splicing	SEC11C(NM_033280:exon3:c.198-1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.198-1G>T;ENST00000299714:exon3:c.198-1G>T;ENST00000588875:exon3:c.198-1G>T)	.	.	0.999990361384395	0.938
18	56819768	T	A	18	59152536	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.T198A:p.S66R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.T198A:p.S66R;ENSG00000166562:ENST00000587834:exon3:c.T198A:p.S66R;ENSG00000166562:ENST00000299714:exon3:c.T198A:p.S66R;	5.93482193932852E-5	0.172
18	56819768	T	C	18	59152536	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon3:c.T198C:p.S66S;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.T198C:p.S66S;ENSG00000166562:ENST00000587834:exon3:c.T198C:p.S66S;ENSG00000166562:ENST00000299714:exon3:c.T198C:p.S66S;	4.42929153001185E-5	0.01
18	56819768	T	G	18	59152536	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.T198G:p.S66R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.T198G:p.S66R;ENSG00000166562:ENST00000587834:exon3:c.T198G:p.S66R;ENSG00000166562:ENST00000299714:exon3:c.T198G:p.S66R;	8.61731221875049E-5	0.2
18	56819769	G	A	18	59152537	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.G199A:p.G67S;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.G199A:p.G67S;ENSG00000166562:ENST00000587834:exon3:c.G199A:p.G67S;ENSG00000166562:ENST00000299714:exon3:c.G199A:p.G67S;	0.998053730220908	0.87
18	56819769	G	C	18	59152537	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.G199C:p.G67R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.G199C:p.G67R;ENSG00000166562:ENST00000587834:exon3:c.G199C:p.G67R;ENSG00000166562:ENST00000299714:exon3:c.G199C:p.G67R;	0.954358856722929	0.892
18	56819769	G	T	18	59152537	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.G199T:p.G67C;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.G199T:p.G67C;ENSG00000166562:ENST00000587834:exon3:c.G199T:p.G67C;ENSG00000166562:ENST00000299714:exon3:c.G199T:p.G67C;	0.977731733443374	0.87
18	56819915	A	C	18	59152683	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.A345C:p.E115D;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.A345C:p.E115D;ENSG00000166562:ENST00000587834:exon3:c.A345C:p.E115D;	0.818354700214746	0.69
18	56819915	A	G	18	59152683	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon3:c.A345G:p.E115E;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.A345G:p.E115E;ENSG00000166562:ENST00000587834:exon3:c.A345G:p.E115E;	0.333697998496037	0.4
18	56819915	A	T	18	59152683	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.A345T:p.E115D;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.A345T:p.E115D;ENSG00000166562:ENST00000587834:exon3:c.A345T:p.E115D;	0.998335138001872	0.784
18	56819916	A	C	18	59152684	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.A346C:p.K116Q;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.A346C:p.K116Q;ENSG00000166562:ENST00000587834:exon3:c.A346C:p.K116Q;	0.999838531404154	0.994
18	56819916	A	G	18	59152684	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.A346G:p.K116E;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.A346G:p.K116E;ENSG00000166562:ENST00000587834:exon3:c.A346G:p.K116E;	0.999859597996784	0.992
18	56819916	A	T	18	59152684	y	y	exonic	SEC11C	stopgain SNV	SEC11C:NM_033280:exon3:c.A346T:p.K116X;	exonic	ENSG00000166562	stopgain SNV	ENSG00000166562:ENST00000588875:exon3:c.A346T:p.K116X;ENSG00000166562:ENST00000587834:exon3:c.A346T:p.K116X;	0.999760276942935	0.992
18	56819917	A	C	18	59152685	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.A347C:p.K116T;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.A347C:p.K116T;ENSG00000166562:ENST00000587834:exon3:c.A347C:p.K116T;	0.842783627240563	0.55
18	56819917	A	G	18	59152685	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.A347G:p.K116R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.A347G:p.K116R;ENSG00000166562:ENST00000587834:exon3:c.A347G:p.K116R;	0.0083981947565723	0.18
18	56819917	A	T	18	59152685	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon3:c.A347T:p.K116I;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon3:c.A347T:p.K116I;ENSG00000166562:ENST00000587834:exon3:c.A347T:p.K116I;	0.923025427941011	0.46
18	56819918	G	A	18	59152686	y	y	splicing	SEC11C(NM_033280:exon3:c.347+1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.347+1G>A;ENST00000588875:exon3:c.347+1G>A)	.	.	0.999968021563937	0.914
18	56819918	G	C	18	59152686	y	y	splicing	SEC11C(NM_033280:exon3:c.347+1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.347+1G>C;ENST00000588875:exon3:c.347+1G>C)	.	.	0.999968021563937	0.914
18	56819918	G	T	18	59152686	y	y	splicing	SEC11C(NM_033280:exon3:c.347+1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.347+1G>T;ENST00000588875:exon3:c.347+1G>T)	.	.	0.999968021563937	0.914
18	56819919	T	A	18	59152687	y	y	splicing	SEC11C(NM_033280:exon3:c.347+2T>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.347+2T>A;ENST00000588875:exon3:c.347+2T>A)	.	.	0.999982322733069	0.92
18	56819919	T	C	18	59152687	y	y	splicing	SEC11C(NM_033280:exon3:c.347+2T>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.347+2T>C;ENST00000588875:exon3:c.347+2T>C)	.	.	0.99487948241335	0.848
18	56819919	T	G	18	59152687	y	y	splicing	SEC11C(NM_033280:exon3:c.347+2T>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon3:c.347+2T>G;ENST00000588875:exon3:c.347+2T>G)	.	.	0.999982322733069	0.918
18	56819920	A	C	18	59152688	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999848156214486	0.93
18	56819920	A	G	18	59152688	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.99953721055126	0.926
18	56819920	A	T	18	59152688	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999801890650518	0.882
18	56819921	A	C	18	59152689	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999991808307937	0.946
18	56819921	A	G	18	59152689	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999961354073553	0.95
18	56819921	A	T	18	59152689	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999981757322435	0.934
18	56819922	A	C	18	59152690	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0014436966655449	0.11
18	56819922	A	G	18	59152690	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	6.32325678574024E-4	0.032
18	56819922	A	T	18	59152690	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00912103483008913	0.066
18	56819923	G	A	18	59152691	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00762098927691451	0.11
18	56819923	G	C	18	59152691	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00353150947999812	0.232
18	56819923	G	T	18	59152691	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	9.23522988237538E-4	0.044
18	56819924	A	C	18	59152692	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00147818369667759	0.074
18	56819924	A	G	18	59152692	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00120076425864083	0.016
18	56819924	A	T	18	59152692	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00122664058365949	0.02
18	56819925	G	A	18	59152693	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.72946036672859E-5	0.006
18	56819925	G	C	18	59152693	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.52875724485011E-5	0.0
18	56819925	G	T	18	59152693	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.25144006642782E-5	0.0
18	56822908	T	A	18	59155676	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.963957629160001	0.714
18	56822908	T	C	18	59155676	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0106064900781132	0.134
18	56822908	T	G	18	59155676	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.815308219019346	0.58
18	56822909	T	A	18	59155677	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.933482807980071	0.646
18	56822909	T	C	18	59155677	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00250830121240295	0.114
18	56822909	T	G	18	59155677	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.208840097586393	0.464
18	56822910	T	A	18	59155678	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999934841023555	0.95
18	56822910	T	C	18	59155678	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0135470428379959	0.216
18	56822910	T	G	18	59155678	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.967300334459879	0.792
18	56822911	G	A	18	59155679	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.25729761794439E-4	0.014
18	56822911	G	C	18	59155679	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.31260311807035E-4	0.016
18	56822911	G	T	18	59155679	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	9.2001797219892E-5	0.0
18	56822912	C	A	18	59155680	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00459326621239569	0.126
18	56822912	C	G	18	59155680	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00295954690154322	0.068
18	56822912	C	T	18	59155680	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	5.44417865671027E-5	0.002
18	56822913	T	A	18	59155681	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.252151822643279	0.5
18	56822913	T	C	18	59155681	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.67153466607218E-4	0.004
18	56822913	T	G	18	59155681	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.42446921585794	0.42
18	56822914	T	A	18	59155682	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.995098859387645	0.856
18	56822914	T	C	18	59155682	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00816014461686073	0.178
18	56822914	T	G	18	59155682	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.996098973912369	0.898
18	56822915	T	A	18	59155683	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.998186148331354	0.9
18	56822915	T	C	18	59155683	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.267447715474921	0.364
18	56822915	T	G	18	59155683	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.995442232276863	0.9
18	56822916	C	A	18	59155684	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	6.38135327515051E-5	0.014
18	56822916	C	G	18	59155684	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.15191502716778E-4	0.01
18	56822916	C	T	18	59155684	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.13993266876875E-4	0.008
18	56822917	C	A	18	59155685	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.978498683623818	0.732
18	56822917	C	G	18	59155685	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999910309742604	0.958
18	56822917	C	T	18	59155685	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00511687860837016	0.076
18	56822918	A	C	18	59155686	y	y	splicing	SEC11C(NM_033280:exon4:c.348-2A>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.348-2A>C;ENST00000299714:exon4:c.275-2A>C;ENST00000588875:exon4:c.348-2A>C)	.	.	0.999988247793601	0.928
18	56822918	A	G	18	59155686	y	y	splicing	SEC11C(NM_033280:exon4:c.348-2A>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.348-2A>G;ENST00000299714:exon4:c.275-2A>G;ENST00000588875:exon4:c.348-2A>G)	.	.	0.999988247793601	0.928
18	56822918	A	T	18	59155686	y	y	splicing	SEC11C(NM_033280:exon4:c.348-2A>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.348-2A>T;ENST00000299714:exon4:c.275-2A>T;ENST00000588875:exon4:c.348-2A>T)	.	.	0.999988247793601	0.928
18	56822919	G	A	18	59155687	y	y	splicing	SEC11C(NM_033280:exon4:c.348-1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.348-1G>A;ENST00000299714:exon4:c.275-1G>A;ENST00000588875:exon4:c.348-1G>A)	.	.	0.999985532734767	0.938
18	56822919	G	C	18	59155687	y	y	splicing	SEC11C(NM_033280:exon4:c.348-1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.348-1G>C;ENST00000299714:exon4:c.275-1G>C;ENST00000588875:exon4:c.348-1G>C)	.	.	0.999985532734767	0.938
18	56822919	G	T	18	59155687	y	y	splicing	SEC11C(NM_033280:exon4:c.348-1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.348-1G>T;ENST00000299714:exon4:c.275-1G>T;ENST00000588875:exon4:c.348-1G>T)	.	.	0.999985532734767	0.938
18	56822920	A	C	18	59155688	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.A348C:p.K116N;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.A348C:p.K116N;ENSG00000166562:ENST00000587834:exon4:c.A348C:p.K116N;ENSG00000166562:ENST00000299714:exon4:c.A275C:p.E92A;	3.43305688571894E-4	0.018
18	56822920	A	G	18	59155688	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon4:c.A348G:p.K116K;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000299714:exon4:c.A275G:p.E92G;	1.11173482823921E-4	0.002
18	56822920	A	T	18	59155688	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.A348T:p.K116N;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.A348T:p.K116N;ENSG00000166562:ENST00000587834:exon4:c.A348T:p.K116N;ENSG00000166562:ENST00000299714:exon4:c.A275T:p.E92V;	0.00108004583686102	0.01
18	56822921	G	A	18	59155689	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G349A:p.D117N;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G349A:p.D117N;ENSG00000166562:ENST00000587834:exon4:c.G349A:p.D117N;	0.0141577096959455	0.318
18	56822921	G	C	18	59155689	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G349C:p.D117H;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G349C:p.D117H;ENSG00000166562:ENST00000587834:exon4:c.G349C:p.D117H;ENSG00000166562:ENST00000299714:exon4:c.G276C:p.E92D;	0.034222192449226	0.33
18	56822921	G	T	18	59155689	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G349T:p.D117Y;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G349T:p.D117Y;ENSG00000166562:ENST00000587834:exon4:c.G349T:p.D117Y;ENSG00000166562:ENST00000299714:exon4:c.G276T:p.E92D;	0.432272452525934	0.496
18	56823037	A	C	18	59155805	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.A465C:p.R155S;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.A465C:p.R155S;ENSG00000166562:ENST00000587834:exon4:c.A465C:p.R155S;	1.1013425994888E-4	0.036
18	56823037	A	G	18	59155805	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon4:c.A465G:p.R155R;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.A465G:p.R155R;ENSG00000166562:ENST00000587834:exon4:c.A465G:p.R155R;	3.54762313604599E-4	0.104
18	56823037	A	T	18	59155805	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.A465T:p.R155S;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.A465T:p.R155S;ENSG00000166562:ENST00000587834:exon4:c.A465T:p.R155S;	0.0959193257548816	0.31
18	56823038	G	A	18	59155806	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G466A:p.G156R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G466A:p.G156S;ENSG00000166562:ENST00000587834:exon4:c.G466A:p.G156R;	0.941206557117246	0.61
18	56823038	G	C	18	59155806	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G466C:p.G156R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G466C:p.G156R;ENSG00000166562:ENST00000587834:exon4:c.G466C:p.G156R;	0.990483481714371	0.868
18	56823038	G	T	18	59155806	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G466T:p.G156W;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G466T:p.G156C;ENSG00000166562:ENST00000587834:exon4:c.G466T:p.G156W;	0.99468027867044	0.844
18	56823039	G	A	18	59155807	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G467A:p.G156E;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G467A:p.G156D;ENSG00000166562:ENST00000587834:exon4:c.G467A:p.G156E;	0.999988640888317	0.994
18	56823039	G	C	18	59155807	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G467C:p.G156A;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G467C:p.G156A;ENSG00000166562:ENST00000587834:exon4:c.G467C:p.G156A;	0.999942528825826	0.996
18	56823039	G	T	18	59155807	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon4:c.G467T:p.G156V;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon4:c.G467T:p.G156V;ENSG00000166562:ENST00000587834:exon4:c.G467T:p.G156V;	0.999884060319045	0.996
18	56823040	G	A	18	59155808	y	y	splicing	SEC11C(NM_033280:exon4:c.467+1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.467+1G>A;ENST00000299714:exon4:c.394+1G>A;ENST00000588875:exon4:c.467+1G>A)	.	.	0.999938422912956	0.932
18	56823040	G	C	18	59155808	y	y	splicing	SEC11C(NM_033280:exon4:c.467+1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.467+1G>C;ENST00000299714:exon4:c.394+1G>C;ENST00000588875:exon4:c.467+1G>C)	.	.	0.999938990645747	0.932
18	56823040	G	T	18	59155808	y	y	splicing	SEC11C(NM_033280:exon4:c.467+1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.467+1G>T;ENST00000299714:exon4:c.394+1G>T;ENST00000588875:exon4:c.467+1G>T)	.	.	0.999938422912956	0.932
18	56823041	T	A	18	59155809	y	y	splicing	SEC11C(NM_033280:exon4:c.467+2T>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.467+2T>A;ENST00000299714:exon4:c.394+2T>A;ENST00000588875:exon4:c.467+2T>A)	.	.	0.999966514958823	0.924
18	56823041	T	C	18	59155809	y	y	splicing	SEC11C(NM_033280:exon4:c.467+2T>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.467+2T>C;ENST00000299714:exon4:c.394+2T>C;ENST00000588875:exon4:c.467+2T>C)	.	.	0.999935311879986	0.952
18	56823041	T	G	18	59155809	y	y	splicing	SEC11C(NM_033280:exon4:c.467+2T>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon4:c.467+2T>G;ENST00000299714:exon4:c.394+2T>G;ENST00000588875:exon4:c.467+2T>G)	.	.	0.999966514958823	0.908
18	56823042	G	A	18	59155810	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.79352082019683E-5	0.0
18	56823042	G	C	18	59155810	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.792640328639612	0.592
18	56823042	G	T	18	59155810	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.781462566983079	0.534
18	56823043	A	C	18	59155811	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.874089771408484	0.716
18	56823043	A	G	18	59155811	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.996147209858785	0.876
18	56823043	A	T	18	59155811	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.997420452048946	0.876
18	56823044	G	A	18	59155812	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999971022210176	0.98
18	56823044	G	C	18	59155812	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999991660841621	0.974
18	56823044	G	T	18	59155812	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999981356994357	0.972
18	56823045	G	A	18	59155813	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	9.5723367024062E-6	0.0
18	56823045	G	C	18	59155813	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.1679361416948E-5	0.016
18	56823045	G	T	18	59155813	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.27219349862041E-5	0.0
18	56823046	A	C	18	59155814	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	8.55573416723147E-4	0.022
18	56823046	A	G	18	59155814	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	8.55573416723147E-4	0.012
18	56823046	A	T	18	59155814	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00159633165888602	0.022
18	56823047	T	A	18	59155815	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	7.33527453448784E-5	0.0
18	56823047	T	C	18	59155815	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.18664609581712E-4	0.008
18	56823047	T	G	18	59155815	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.18664609581712E-4	0.004
18	56824828	C	A	18	59157596	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00353205598149159	0.108
18	56824828	C	G	18	59157596	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0014145030922868	0.08
18	56824828	C	T	18	59157596	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.71519068873317E-5	0.0
18	56824829	C	A	18	59157597	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00218882734174575	0.038
18	56824829	C	G	18	59157597	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00874902699763824	0.082
18	56824829	C	T	18	59157597	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	8.64457328448529E-5	0.0
18	56824830	C	A	18	59157598	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00518041841819335	0.108
18	56824830	C	G	18	59157598	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00376699375857678	0.08
18	56824830	C	T	18	59157598	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.99933026446154E-5	0.0
18	56824831	A	C	18	59157599	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0263494535442679	0.136
18	56824831	A	G	18	59157599	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0316745343357824	0.118
18	56824831	A	T	18	59157599	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0257974450584325	0.234
18	56824832	C	A	18	59157600	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0058031804253724	0.196
18	56824832	C	G	18	59157600	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999897471953772	0.964
18	56824832	C	T	18	59157600	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.29165300413225E-5	0.006
18	56824833	A	C	18	59157601	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.15167872343591E-4	0.024
18	56824833	A	G	18	59157601	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.45552784963958E-4	0.062
18	56824833	A	T	18	59157601	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.15861480411914E-4	0.038
18	56824834	A	C	18	59157602	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.84362086961192E-4	0.144
18	56824834	A	G	18	59157602	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.99911793761001	0.944
18	56824834	A	T	18	59157602	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.0815594409041E-4	0.076
18	56824835	T	A	18	59157603	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.984322337362452	0.738
18	56824835	T	C	18	59157603	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0112014359795633	0.284
18	56824835	T	G	18	59157603	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999977203049565	0.916
18	56824836	T	A	18	59157604	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00105069801676946	0.082
18	56824836	T	C	18	59157604	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.12241848090942E-4	0.026
18	56824836	T	G	18	59157604	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	9.81010212387652E-4	0.066
18	56824837	T	A	18	59157605	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.997162988702866	0.816
18	56824837	T	C	18	59157605	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.141831373640798	0.334
18	56824837	T	G	18	59157605	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.99941953579852	0.914
18	56824838	A	C	18	59157606	y	y	splicing	SEC11C(NM_033280:exon5:c.468-2A>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.468-2A>C;ENST00000299714:exon5:c.395-2A>C)	.	.	0.999986741007567	0.944
18	56824838	A	G	18	59157606	y	y	splicing	SEC11C(NM_033280:exon5:c.468-2A>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.468-2A>G;ENST00000299714:exon5:c.395-2A>G)	.	.	0.999986741007567	0.944
18	56824838	A	T	18	59157606	y	y	splicing	SEC11C(NM_033280:exon5:c.468-2A>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.468-2A>T;ENST00000299714:exon5:c.395-2A>T)	.	.	0.999986741007567	0.944
18	56824839	G	A	18	59157607	y	y	splicing	SEC11C(NM_033280:exon5:c.468-1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.468-1G>A;ENST00000299714:exon5:c.395-1G>A)	.	.	0.999989125585301	0.944
18	56824839	G	C	18	59157607	y	y	splicing	SEC11C(NM_033280:exon5:c.468-1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.468-1G>C;ENST00000299714:exon5:c.395-1G>C)	.	.	0.999989125585301	0.944
18	56824839	G	T	18	59157607	y	y	splicing	SEC11C(NM_033280:exon5:c.468-1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.468-1G>T;ENST00000299714:exon5:c.395-1G>T)	.	.	0.999989125585301	0.944
18	56824840	G	A	18	59157608	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon5:c.G468A:p.G156G;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.G468A:p.G156G;	0.978246473949124	0.742
18	56824840	G	C	18	59157608	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon5:c.G468C:p.G156G;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.G468C:p.G156G;	0.99638369716224	0.928
18	56824840	G	T	18	59157608	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon5:c.G468T:p.G156G;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.G468T:p.G156G;	0.997775971602734	0.942
18	56824841	T	A	18	59157609	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.T469A:p.F157I;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.T469A:p.F157I;	0.948116469176523	0.554
18	56824841	T	C	18	59157609	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.T469C:p.F157L;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.T469C:p.F157L;	0.942248282686064	0.5
18	56824841	T	G	18	59157609	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.T469G:p.F157V;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.T469G:p.F157V;	0.940239711518062	0.53
18	56824895	A	C	18	59157663	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.A523C:p.K175Q;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.A523C:p.K175Q;	0.827037196448626	0.732
18	56824895	A	G	18	59157663	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.A523G:p.K175E;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.A523G:p.K175E;	0.499877172947878	0.568
18	56824895	A	T	18	59157663	y	y	exonic	SEC11C	stopgain SNV	SEC11C:NM_033280:exon5:c.A523T:p.K175X;	exonic	ENSG00000166562	stopgain SNV	ENSG00000166562:ENST00000587834:exon5:c.A523T:p.K175X;	0.979954243972775	0.796
18	56824896	A	C	18	59157664	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.A524C:p.K175T;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.A524C:p.K175T;	0.997834290133922	0.96
18	56824896	A	G	18	59157664	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.A524G:p.K175R;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.A524G:p.K175R;	0.99981948227152	0.992
18	56824896	A	T	18	59157664	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.A524T:p.K175M;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.A524T:p.K175M;	0.999727768869832	0.972
18	56824897	G	A	18	59157665	y	y	exonic	SEC11C	synonymous SNV	SEC11C:NM_033280:exon5:c.G525A:p.K175K;	exonic	ENSG00000166562	synonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.G525A:p.K175K;	0.999930437720095	0.992
18	56824897	G	C	18	59157665	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.G525C:p.K175N;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.G525C:p.K175N;	0.999997758162875	1.0
18	56824897	G	T	18	59157665	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon5:c.G525T:p.K175N;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon5:c.G525T:p.K175N;	0.999991239447877	1.0
18	56824898	G	A	18	59157666	y	y	splicing	SEC11C(NM_033280:exon5:c.525+1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.525+1G>A;ENST00000299714:exon5:c.452+1G>A)	.	.	0.999990361384395	0.938
18	56824898	G	C	18	59157666	y	y	splicing	SEC11C(NM_033280:exon5:c.525+1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.525+1G>C;ENST00000299714:exon5:c.452+1G>C)	.	.	0.999990361384395	0.938
18	56824898	G	T	18	59157666	y	y	splicing	SEC11C(NM_033280:exon5:c.525+1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.525+1G>T;ENST00000299714:exon5:c.452+1G>T)	.	.	0.999990361384395	0.938
18	56824899	T	A	18	59157667	y	y	splicing	SEC11C(NM_033280:exon5:c.525+2T>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.525+2T>A;ENST00000299714:exon5:c.452+2T>A)	.	.	0.999988247793601	0.932
18	56824899	T	C	18	59157667	y	y	splicing	SEC11C(NM_033280:exon5:c.525+2T>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.525+2T>C;ENST00000299714:exon5:c.452+2T>C)	.	.	0.996388929962285	0.71
18	56824899	T	G	18	59157667	y	y	splicing	SEC11C(NM_033280:exon5:c.525+2T>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon5:c.525+2T>G;ENST00000299714:exon5:c.452+2T>G)	.	.	0.999988247793601	0.932
18	56824900	A	C	18	59157668	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.996472124529059	0.914
18	56824900	A	G	18	59157668	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.929907416055925	0.786
18	56824900	A	T	18	59157668	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.996218524297082	0.908
18	56824901	G	A	18	59157669	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.46542711207842E-4	0.012
18	56824901	G	C	18	59157669	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.3557532230913E-4	0.108
18	56824901	G	T	18	59157669	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	2.39557814608785E-4	0.046
18	56824902	G	A	18	59157670	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999067197215427	0.57
18	56824902	G	C	18	59157670	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999381761704532	0.804
18	56824902	G	T	18	59157670	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.99995584473617	0.846
18	56824903	A	C	18	59157671	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00157212105941872	0.056
18	56824903	A	G	18	59157671	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.63017038034608E-4	0.012
18	56824903	A	T	18	59157671	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.0595270421343E-4	0.006
18	56824904	A	C	18	59157672	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	9.25764936172149E-4	0.008
18	56824904	A	G	18	59157672	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	6.75406731499088E-4	0.008
18	56824904	A	T	18	59157672	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00111343921354325	0.024
18	56824905	T	A	18	59157673	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	5.54513835165806E-4	0.0
18	56824905	T	C	18	59157673	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0025507896260364	0.004
18	56824905	T	G	18	59157673	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	5.38547004065346E-4	0.002
18	56825852	T	A	18	59158620	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00112296381249198	0.214
18	56825852	T	C	18	59158620	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.14253946847061E-4	0.016
18	56825852	T	G	18	59158620	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00194925971128181	0.116
18	56825853	T	A	18	59158621	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0806475603027429	0.374
18	56825853	T	C	18	59158621	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00286196302787018	0.106
18	56825853	T	G	18	59158621	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0183566789075929	0.266
18	56825854	T	A	18	59158622	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	4.53465946043192E-4	0.108
18	56825854	T	C	18	59158622	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.92065622680306E-5	0.044
18	56825854	T	G	18	59158622	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.38274396577051E-4	0.086
18	56825855	T	A	18	59158623	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00349206764670041	0.174
18	56825855	T	C	18	59158623	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	8.50530399710203E-5	0.068
18	56825855	T	G	18	59158623	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00178823978487815	0.08
18	56825856	C	A	18	59158624	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0118138687806941	0.13
18	56825856	C	G	18	59158624	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0085334697898972	0.138
18	56825856	C	T	18	59158624	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	4.93450880391086E-4	0.018
18	56825857	T	A	18	59158625	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0258659777789642	0.072
18	56825857	T	C	18	59158625	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	1.53576839162531E-4	0.008
18	56825857	T	G	18	59158625	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0121354878653287	0.104
18	56825858	T	A	18	59158626	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00721852593967564	0.074
18	56825858	T	C	18	59158626	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.48382535305324E-4	0.004
18	56825858	T	G	18	59158626	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00549588591217289	0.082
18	56825859	T	A	18	59158627	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00465204368775942	0.116
18	56825859	T	C	18	59158627	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	7.31210889727038E-4	0.024
18	56825859	T	G	18	59158627	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.00868390481344253	0.142
18	56825860	C	A	18	59158628	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.93945109147749E-5	0.0
18	56825860	C	G	18	59158628	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	6.38698436336767E-5	0.0
18	56825860	C	T	18	59158628	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	3.93945109147749E-5	0.0
18	56825861	C	A	18	59158629	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.969398567464942	0.818
18	56825861	C	G	18	59158629	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.999725512228956	0.932
18	56825861	C	T	18	59158629	y	y	intronic	SEC11C	.	.	intronic	ENSG00000166562	.	.	0.0766678112611388	0.154
18	56825862	A	C	18	59158630	y	y	splicing	SEC11C(NM_033280:exon6:c.526-2A>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon6:c.526-2A>C;ENST00000299714:exon6:c.453-2A>C;ENST00000588875:exon5:c.468-2A>C)	.	.	0.999988247793601	0.932
18	56825862	A	G	18	59158630	y	y	splicing	SEC11C(NM_033280:exon6:c.526-2A>G)	.	.	splicing	ENSG00000166562(ENST00000587834:exon6:c.526-2A>G;ENST00000299714:exon6:c.453-2A>G;ENST00000588875:exon5:c.468-2A>G)	.	.	0.999988247793601	0.932
18	56825862	A	T	18	59158630	y	y	splicing	SEC11C(NM_033280:exon6:c.526-2A>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon6:c.526-2A>T;ENST00000299714:exon6:c.453-2A>T;ENST00000588875:exon5:c.468-2A>T)	.	.	0.999988247793601	0.932
18	56825863	G	A	18	59158631	y	y	splicing	SEC11C(NM_033280:exon6:c.526-1G>A)	.	.	splicing	ENSG00000166562(ENST00000587834:exon6:c.526-1G>A;ENST00000299714:exon6:c.453-1G>A;ENST00000588875:exon5:c.468-1G>A)	.	.	0.999987124402133	0.938
18	56825863	G	C	18	59158631	y	y	splicing	SEC11C(NM_033280:exon6:c.526-1G>C)	.	.	splicing	ENSG00000166562(ENST00000587834:exon6:c.526-1G>C;ENST00000299714:exon6:c.453-1G>C;ENST00000588875:exon5:c.468-1G>C)	.	.	0.999987124402133	0.936
18	56825863	G	T	18	59158631	y	y	splicing	SEC11C(NM_033280:exon6:c.526-1G>T)	.	.	splicing	ENSG00000166562(ENST00000587834:exon6:c.526-1G>T;ENST00000299714:exon6:c.453-1G>T;ENST00000588875:exon5:c.468-1G>T)	.	.	0.999987124402133	0.936
18	56825864	T	A	18	59158632	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon6:c.T526A:p.Y176N;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon6:c.T526A:p.Y176N;	0.723396275066965	0.744
18	56825864	T	C	18	59158632	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon6:c.T526C:p.Y176H;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon6:c.T526C:p.Y176H;	0.895891614450415	0.674
18	56825864	T	G	18	59158632	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon6:c.T526G:p.Y176D;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000587834:exon6:c.T526G:p.Y176D;	0.813093040675251	0.656
18	56825865	A	C	18	59158633	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon6:c.A527C:p.Y176S;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon5:c.A469C:p.M157L;ENSG00000166562:ENST00000587834:exon6:c.A527C:p.Y176S;	0.917803351649436	0.778
18	56825865	A	G	18	59158633	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon6:c.A527G:p.Y176C;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon5:c.A469G:p.M157V;ENSG00000166562:ENST00000587834:exon6:c.A527G:p.Y176C;	0.921958721014967	0.684
18	56825865	A	T	18	59158633	y	y	exonic	SEC11C	nonsynonymous SNV	SEC11C:NM_033280:exon6:c.A527T:p.Y176F;	exonic	ENSG00000166562	nonsynonymous SNV	ENSG00000166562:ENST00000588875:exon5:c.A469T:p.M157L;ENSG00000166562:ENST00000587834:exon6:c.A527T:p.Y176F;	0.88814218674596	0.728
18	56887634	T	A	18	59220402	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon1:c.T137A:p.V46E;GRP:NM_002091:exon1:c.T137A:p.V46E;GRP:NM_001012512:exon1:c.T137A:p.V46E;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.T137A:p.V46E;ENSG00000134443:ENST00000529320:exon1:c.T137A:p.V46E;ENSG00000134443:ENST00000256857:exon1:c.T137A:p.V46E;	0.325234540477062	0.55
18	56887634	T	C	18	59220402	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon1:c.T137C:p.V46A;GRP:NM_002091:exon1:c.T137C:p.V46A;GRP:NM_001012512:exon1:c.T137C:p.V46A;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.T137C:p.V46A;ENSG00000134443:ENST00000529320:exon1:c.T137C:p.V46A;ENSG00000134443:ENST00000256857:exon1:c.T137C:p.V46A;	0.32742944842483	0.49
18	56887634	T	G	18	59220402	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon1:c.T137G:p.V46G;GRP:NM_002091:exon1:c.T137G:p.V46G;GRP:NM_001012512:exon1:c.T137G:p.V46G;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.T137G:p.V46G;ENSG00000134443:ENST00000529320:exon1:c.T137G:p.V46G;ENSG00000134443:ENST00000256857:exon1:c.T137G:p.V46G;	0.378186277992518	0.514
18	56887635	G	A	18	59220403	y	y	exonic	GRP	synonymous SNV	GRP:NM_001012513:exon1:c.G138A:p.V46V;GRP:NM_002091:exon1:c.G138A:p.V46V;GRP:NM_001012512:exon1:c.G138A:p.V46V;	exonic	ENSG00000134443	synonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.G138A:p.V46V;ENSG00000134443:ENST00000529320:exon1:c.G138A:p.V46V;ENSG00000134443:ENST00000256857:exon1:c.G138A:p.V46V;	1.20094457979913E-4	0.148
18	56887635	G	C	18	59220403	y	y	exonic	GRP	synonymous SNV	GRP:NM_001012513:exon1:c.G138C:p.V46V;GRP:NM_002091:exon1:c.G138C:p.V46V;GRP:NM_001012512:exon1:c.G138C:p.V46V;	exonic	ENSG00000134443	synonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.G138C:p.V46V;ENSG00000134443:ENST00000529320:exon1:c.G138C:p.V46V;ENSG00000134443:ENST00000256857:exon1:c.G138C:p.V46V;	2.58741509311826E-4	0.012
18	56887635	G	T	18	59220403	y	y	exonic	GRP	synonymous SNV	GRP:NM_001012513:exon1:c.G138T:p.V46V;GRP:NM_002091:exon1:c.G138T:p.V46V;GRP:NM_001012512:exon1:c.G138T:p.V46V;	exonic	ENSG00000134443	synonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.G138T:p.V46V;ENSG00000134443:ENST00000529320:exon1:c.G138T:p.V46V;ENSG00000134443:ENST00000256857:exon1:c.G138T:p.V46V;	1.755890929593E-4	0.002
18	56887636	G	A	18	59220404	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon1:c.G139A:p.G47R;GRP:NM_002091:exon1:c.G139A:p.G47R;GRP:NM_001012512:exon1:c.G139A:p.G47R;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.G139A:p.G47R;ENSG00000134443:ENST00000529320:exon1:c.G139A:p.G47R;ENSG00000134443:ENST00000256857:exon1:c.G139A:p.G47R;	0.999977565718507	0.98
18	56887636	G	C	18	59220404	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon1:c.G139C:p.G47R;GRP:NM_002091:exon1:c.G139C:p.G47R;GRP:NM_001012512:exon1:c.G139C:p.G47R;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.G139C:p.G47R;ENSG00000134443:ENST00000529320:exon1:c.G139C:p.G47R;ENSG00000134443:ENST00000256857:exon1:c.G139C:p.G47R;	0.999982683457875	0.95
18	56887636	G	T	18	59220404	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon1:c.G139T:p.G47W;GRP:NM_002091:exon1:c.G139T:p.G47W;GRP:NM_001012512:exon1:c.G139T:p.G47W;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon1:c.G139T:p.G47W;ENSG00000134443:ENST00000529320:exon1:c.G139T:p.G47W;ENSG00000134443:ENST00000256857:exon1:c.G139T:p.G47W;	0.999976250838142	0.986
18	56887637	G	A	18	59220405	y	y	splicing	GRP(NM_002091:exon1:c.139+1G>A;NM_001012512:exon1:c.139+1G>A;NM_001012513:exon1:c.139+1G>A)	.	.	splicing	ENSG00000134443(ENST00000256857:exon1:c.139+1G>A;ENST00000529320:exon1:c.139+1G>A;ENST00000420468:exon1:c.139+1G>A)	.	.	0.999986675681007	0.944
18	56887637	G	C	18	59220405	y	y	splicing	GRP(NM_002091:exon1:c.139+1G>C;NM_001012512:exon1:c.139+1G>C;NM_001012513:exon1:c.139+1G>C)	.	.	splicing	ENSG00000134443(ENST00000256857:exon1:c.139+1G>C;ENST00000529320:exon1:c.139+1G>C;ENST00000420468:exon1:c.139+1G>C)	.	.	0.999986675681007	0.942
18	56887637	G	T	18	59220405	y	y	splicing	GRP(NM_002091:exon1:c.139+1G>T;NM_001012512:exon1:c.139+1G>T;NM_001012513:exon1:c.139+1G>T)	.	.	splicing	ENSG00000134443(ENST00000256857:exon1:c.139+1G>T;ENST00000529320:exon1:c.139+1G>T;ENST00000420468:exon1:c.139+1G>T)	.	.	0.999986675681007	0.942
18	56887638	T	A	18	59220406	y	y	splicing	GRP(NM_002091:exon1:c.139+2T>A;NM_001012512:exon1:c.139+2T>A;NM_001012513:exon1:c.139+2T>A)	.	.	splicing	ENSG00000134443(ENST00000256857:exon1:c.139+2T>A;ENST00000529320:exon1:c.139+2T>A;ENST00000420468:exon1:c.139+2T>A)	.	.	0.999990155693597	0.94
18	56887638	T	C	18	59220406	y	y	splicing	GRP(NM_002091:exon1:c.139+2T>C;NM_001012512:exon1:c.139+2T>C;NM_001012513:exon1:c.139+2T>C)	.	.	splicing	ENSG00000134443(ENST00000256857:exon1:c.139+2T>C;ENST00000529320:exon1:c.139+2T>C;ENST00000420468:exon1:c.139+2T>C)	.	.	0.999937051575235	0.848
18	56887638	T	G	18	59220406	y	y	splicing	GRP(NM_002091:exon1:c.139+2T>G;NM_001012512:exon1:c.139+2T>G;NM_001012513:exon1:c.139+2T>G)	.	.	splicing	ENSG00000134443(ENST00000256857:exon1:c.139+2T>G;ENST00000529320:exon1:c.139+2T>G;ENST00000420468:exon1:c.139+2T>G)	.	.	0.999990155693597	0.936
18	56887639	G	A	18	59220407	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.60881020270475E-4	0.0
18	56887639	G	C	18	59220407	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.995089907097212	0.892
18	56887639	G	T	18	59220407	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.998397012856584	0.898
18	56887640	A	C	18	59220408	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.99872686340157	0.94
18	56887640	A	G	18	59220408	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.997504314790604	0.894
18	56887640	A	T	18	59220408	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.99927766703056	0.944
18	56887641	G	A	18	59220409	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.999975469497912	0.996
18	56887641	G	C	18	59220409	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.999964176050927	0.994
18	56887641	G	T	18	59220409	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.999976714504375	0.93
18	56887642	T	A	18	59220410	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.98861479736532	0.776
18	56887642	T	C	18	59220410	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.977949744800468	0.66
18	56887642	T	G	18	59220410	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.964311447833995	0.734
18	56887643	G	A	18	59220411	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.0174068987894818	0.058
18	56887643	G	C	18	59220411	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.00669839751310658	0.034
18	56887643	G	T	18	59220411	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.0339840000024765	0.056
18	56887644	T	A	18	59220412	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.0500893820139717	0.194
18	56887644	T	C	18	59220412	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.00809035241693928	0.11
18	56887644	T	G	18	59220412	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.012509875739713	0.112
18	56892712	T	A	18	59225480	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.96028263475738E-4	0.098
18	56892712	T	C	18	59225480	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.03909793923775E-4	0.008
18	56892712	T	G	18	59225480	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.62974156948426E-4	0.1
18	56892713	T	A	18	59225481	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.670415401174649	0.65
18	56892713	T	C	18	59225481	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	2.70206833825397E-5	0.0
18	56892713	T	G	18	59225481	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	3.71575525628052E-5	0.016
18	56892714	G	A	18	59225482	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	5.92229620680902E-5	0.0
18	56892714	G	C	18	59225482	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	9.11599788285826E-6	0.0
18	56892714	G	T	18	59225482	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.7662919805249E-5	0.004
18	56892715	T	A	18	59225483	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.66355492521501E-4	0.016
18	56892715	T	C	18	59225483	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	7.12713344985234E-5	0.004
18	56892715	T	G	18	59225483	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.11266757658481E-4	0.02
18	56892716	T	A	18	59225484	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	2.70078642384052E-4	0.05
18	56892716	T	C	18	59225484	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	9.25466148526357E-5	0.008
18	56892716	T	G	18	59225484	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.29292998937709E-4	0.034
18	56892717	T	A	18	59225485	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.00118598388319147	0.09
18	56892717	T	C	18	59225485	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	2.98812847419141E-5	0.0
18	56892717	T	G	18	59225485	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.29567767735481E-4	0.038
18	56892718	T	A	18	59225486	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.00590072676249281	0.184
18	56892718	T	C	18	59225486	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	2.09993660680125E-4	0.01
18	56892718	T	G	18	59225486	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.00856381248234794	0.186
18	56892719	T	A	18	59225487	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.07307308620196E-4	0.04
18	56892719	T	C	18	59225487	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	6.55185193103743E-5	0.006
18	56892719	T	G	18	59225487	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.39755554156853E-4	0.068
18	56892720	A	C	18	59225488	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	5.24232265928981E-5	0.002
18	56892720	A	G	18	59225488	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.52395656114149E-4	0.0
18	56892720	A	T	18	59225488	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	7.9640616752897E-5	0.0
18	56892721	C	A	18	59225489	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.647351744575259	0.482
18	56892721	C	G	18	59225489	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.999439894507114	0.824
18	56892721	C	T	18	59225489	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.0761769539614094	0.328
18	56892722	A	C	18	59225490	y	y	splicing	GRP(NM_002091:exon2:c.140-2A>C;NM_001012512:exon2:c.140-2A>C;NM_001012513:exon2:c.140-2A>C)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.140-2A>C;ENST00000529320:exon2:c.140-2A>C;ENST00000420468:exon2:c.140-2A>C)	.	.	0.999966203349492	0.926
18	56892722	A	G	18	59225490	y	y	splicing	GRP(NM_002091:exon2:c.140-2A>G;NM_001012512:exon2:c.140-2A>G;NM_001012513:exon2:c.140-2A>G)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.140-2A>G;ENST00000529320:exon2:c.140-2A>G;ENST00000420468:exon2:c.140-2A>G)	.	.	0.999966203349492	0.926
18	56892722	A	T	18	59225490	y	y	splicing	GRP(NM_002091:exon2:c.140-2A>T;NM_001012512:exon2:c.140-2A>T;NM_001012513:exon2:c.140-2A>T)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.140-2A>T;ENST00000529320:exon2:c.140-2A>T;ENST00000420468:exon2:c.140-2A>T)	.	.	0.999986903042585	0.926
18	56892723	G	A	18	59225491	y	y	splicing	GRP(NM_002091:exon2:c.140-1G>A;NM_001012512:exon2:c.140-1G>A;NM_001012513:exon2:c.140-1G>A)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.140-1G>A;ENST00000529320:exon2:c.140-1G>A;ENST00000420468:exon2:c.140-1G>A)	.	.	0.999981760802075	0.944
18	56892723	G	C	18	59225491	y	y	splicing	GRP(NM_002091:exon2:c.140-1G>C;NM_001012512:exon2:c.140-1G>C;NM_001012513:exon2:c.140-1G>C)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.140-1G>C;ENST00000529320:exon2:c.140-1G>C;ENST00000420468:exon2:c.140-1G>C)	.	.	0.999981760802075	0.944
18	56892723	G	T	18	59225491	y	y	splicing	GRP(NM_002091:exon2:c.140-1G>T;NM_001012512:exon2:c.140-1G>T;NM_001012513:exon2:c.140-1G>T)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.140-1G>T;ENST00000529320:exon2:c.140-1G>T;ENST00000420468:exon2:c.140-1G>T)	.	.	0.999981760802075	0.944
18	56892724	G	A	18	59225492	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon2:c.G140A:p.G47E;GRP:NM_002091:exon2:c.G140A:p.G47E;GRP:NM_001012512:exon2:c.G140A:p.G47E;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G140A:p.G47E;ENSG00000134443:ENST00000529320:exon2:c.G140A:p.G47E;ENSG00000134443:ENST00000256857:exon2:c.G140A:p.G47E;	0.163045717818764	0.3
18	56892724	G	C	18	59225492	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon2:c.G140C:p.G47A;GRP:NM_002091:exon2:c.G140C:p.G47A;GRP:NM_001012512:exon2:c.G140C:p.G47A;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G140C:p.G47A;ENSG00000134443:ENST00000529320:exon2:c.G140C:p.G47A;ENSG00000134443:ENST00000256857:exon2:c.G140C:p.G47A;	0.366893537514292	0.474
18	56892724	G	T	18	59225492	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon2:c.G140T:p.G47V;GRP:NM_002091:exon2:c.G140T:p.G47V;GRP:NM_001012512:exon2:c.G140T:p.G47V;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G140T:p.G47V;ENSG00000134443:ENST00000529320:exon2:c.G140T:p.G47V;ENSG00000134443:ENST00000256857:exon2:c.G140T:p.G47V;	0.701779777311455	0.626
18	56892725	G	A	18	59225493	y	y	exonic	GRP	synonymous SNV	GRP:NM_001012513:exon2:c.G141A:p.G47G;GRP:NM_002091:exon2:c.G141A:p.G47G;GRP:NM_001012512:exon2:c.G141A:p.G47G;	exonic	ENSG00000134443	synonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G141A:p.G47G;ENSG00000134443:ENST00000529320:exon2:c.G141A:p.G47G;ENSG00000134443:ENST00000256857:exon2:c.G141A:p.G47G;	7.10903232642123E-5	0.02
18	56892725	G	C	18	59225493	y	y	exonic	GRP	synonymous SNV	GRP:NM_001012513:exon2:c.G141C:p.G47G;GRP:NM_002091:exon2:c.G141C:p.G47G;GRP:NM_001012512:exon2:c.G141C:p.G47G;	exonic	ENSG00000134443	synonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G141C:p.G47G;ENSG00000134443:ENST00000529320:exon2:c.G141C:p.G47G;ENSG00000134443:ENST00000256857:exon2:c.G141C:p.G47G;	1.21774758347512E-4	0.008
18	56892725	G	T	18	59225493	y	y	exonic	GRP	synonymous SNV	GRP:NM_001012513:exon2:c.G141T:p.G47G;GRP:NM_002091:exon2:c.G141T:p.G47G;GRP:NM_001012512:exon2:c.G141T:p.G47G;	exonic	ENSG00000134443	synonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G141T:p.G47G;ENSG00000134443:ENST00000529320:exon2:c.G141T:p.G47G;ENSG00000134443:ENST00000256857:exon2:c.G141T:p.G47G;	6.35658803300149E-5	0.002
18	56892964	A	C	18	59225732	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon2:c.A380C:p.K127T;GRP:NM_001012512:exon2:c.A380C:p.K127T;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.A380C:p.K127T;ENSG00000134443:ENST00000256857:exon2:c.A380C:p.K127T;	1.28618700329528E-4	0.002
18	56892964	A	G	18	59225732	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon2:c.A380G:p.K127R;GRP:NM_001012512:exon2:c.A380G:p.K127R;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.A380G:p.K127R;ENSG00000134443:ENST00000256857:exon2:c.A380G:p.K127R;	0.00254034419065454	0.034
18	56892964	A	T	18	59225732	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon2:c.A380T:p.K127I;GRP:NM_001012512:exon2:c.A380T:p.K127I;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.A380T:p.K127I;ENSG00000134443:ENST00000256857:exon2:c.A380T:p.K127I;	0.443291991547131	0.488
18	56892965	A	C	18	59225733	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon2:c.A381C:p.K127N;GRP:NM_001012512:exon2:c.A381C:p.K127N;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.A381C:p.K127N;ENSG00000134443:ENST00000256857:exon2:c.A381C:p.K127N;	0.923219010809022	0.768
18	56892965	A	G	18	59225733	y	y	exonic	GRP	synonymous SNV	GRP:NM_002091:exon2:c.A381G:p.K127K;GRP:NM_001012512:exon2:c.A381G:p.K127K;	exonic	ENSG00000134443	synonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.A381G:p.K127K;ENSG00000134443:ENST00000256857:exon2:c.A381G:p.K127K;	0.989417187789043	0.782
18	56892965	A	T	18	59225733	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon2:c.A381T:p.K127N;GRP:NM_001012512:exon2:c.A381T:p.K127N;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.A381T:p.K127N;ENSG00000134443:ENST00000256857:exon2:c.A381T:p.K127N;	0.998190335891783	0.9
18	56892966	G	A	18	59225734	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon2:c.G382A:p.V128I;GRP:NM_001012512:exon2:c.G382A:p.G128S;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G382A:p.G128S;ENSG00000134443:ENST00000256857:exon2:c.G382A:p.V128I;	0.999959503635173	0.988
18	56892966	G	C	18	59225734	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon2:c.G382C:p.V128L;GRP:NM_001012512:exon2:c.G382C:p.G128R;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G382C:p.G128R;ENSG00000134443:ENST00000256857:exon2:c.G382C:p.V128L;	0.999987695919504	0.978
18	56892966	G	T	18	59225734	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon2:c.G382T:p.V128F;GRP:NM_001012512:exon2:c.G382T:p.G128C;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000420468:exon2:c.G382T:p.G128C;ENSG00000134443:ENST00000256857:exon2:c.G382T:p.V128F;	0.999973809203308	0.984
18	56892967	G	A	18	59225735	y	y	splicing	GRP(NM_002091:exon2:c.382+1G>A;NM_001012512:exon2:c.382+1G>A)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.382+1G>A;ENST00000420468:exon2:c.382+1G>A;ENST00000456142:exon1:c.243+1G>A)	.	.	0.999930329503934	0.936
18	56892967	G	C	18	59225735	y	y	splicing	GRP(NM_002091:exon2:c.382+1G>C;NM_001012512:exon2:c.382+1G>C)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.382+1G>C;ENST00000420468:exon2:c.382+1G>C;ENST00000456142:exon1:c.243+1G>C)	.	.	0.99993097185176	0.936
18	56892967	G	T	18	59225735	y	y	splicing	GRP(NM_002091:exon2:c.382+1G>T;NM_001012512:exon2:c.382+1G>T)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.382+1G>T;ENST00000420468:exon2:c.382+1G>T;ENST00000456142:exon1:c.243+1G>T)	.	.	0.999930329503934	0.934
18	56892968	T	A	18	59225736	y	y	splicing	GRP(NM_002091:exon2:c.382+2T>A;NM_001012512:exon2:c.382+2T>A)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.382+2T>A;ENST00000420468:exon2:c.382+2T>A;ENST00000456142:exon1:c.243+2T>A)	.	.	0.999955107838025	0.93
18	56892968	T	C	18	59225736	y	y	splicing	GRP(NM_002091:exon2:c.382+2T>C;NM_001012512:exon2:c.382+2T>C)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.382+2T>C;ENST00000420468:exon2:c.382+2T>C;ENST00000456142:exon1:c.243+2T>C)	.	.	0.9625685257457	0.62
18	56892968	T	G	18	59225736	y	y	splicing	GRP(NM_002091:exon2:c.382+2T>G;NM_001012512:exon2:c.382+2T>G)	.	.	splicing	ENSG00000134443(ENST00000256857:exon2:c.382+2T>G;ENST00000420468:exon2:c.382+2T>G;ENST00000456142:exon1:c.243+2T>G)	.	.	0.999955107838025	0.928
18	56892969	A	C	18	59225737	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.999452656128192	0.884
18	56892969	A	G	18	59225737	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.908071225149048	0.678
18	56892969	A	T	18	59225737	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.998907050917684	0.884
18	56892970	A	C	18	59225738	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.438242223431338	0.314
18	56892970	A	G	18	59225738	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.513878355187693	0.404
18	56892970	A	T	18	59225738	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.598450706187704	0.26
18	56892971	A	C	18	59225739	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	9.76472062518E-5	0.03
18	56892971	A	G	18	59225739	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	5.64264635209073E-4	0.074
18	56892971	A	T	18	59225739	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.43849755710173E-4	0.026
18	56892972	A	C	18	59225740	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	3.4002763684885E-5	0.016
18	56892972	A	G	18	59225740	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	2.14908439612564E-5	0.0
18	56892972	A	T	18	59225740	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	2.04576395161995E-5	0.0
18	56892973	G	A	18	59225741	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	6.05307942251884E-5	0.002
18	56892973	G	C	18	59225741	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	4.30790773083982E-5	0.002
18	56892973	G	T	18	59225741	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.26825201603854E-4	0.004
18	56892974	A	C	18	59225742	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	6.0617073089448E-5	0.0
18	56892974	A	G	18	59225742	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	4.95926651422279E-5	0.004
18	56892974	A	T	18	59225742	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	6.0617073089448E-5	0.0
18	56897624	A	C	18	59230392	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.54343628723668E-5	0.026
18	56897624	A	G	18	59230392	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.997955450128324	0.9
18	56897624	A	T	18	59230392	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.70141422813052E-5	0.02
18	56897625	T	A	18	59230393	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.999734916666791	0.954
18	56897625	T	C	18	59230393	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.99748904008136	0.78
18	56897625	T	G	18	59230393	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.999987272959996	0.98
18	56897626	A	C	18	59230394	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	2.96475411777738E-5	0.012
18	56897626	A	G	18	59230394	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.90550690013643E-5	0.034
18	56897626	A	T	18	59230394	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	4.02662930830767E-5	0.032
18	56897627	T	A	18	59230395	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.997509865193809	0.902
18	56897627	T	C	18	59230395	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.605071768778639	0.462
18	56897627	T	G	18	59230395	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.99996402095527	0.97
18	56897628	T	A	18	59230396	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.00646750207275586	0.284
18	56897628	T	C	18	59230396	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.08726262868823E-4	0.026
18	56897628	T	G	18	59230396	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.00541202549527082	0.262
18	56897629	T	A	18	59230397	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.945077116245258	0.61
18	56897629	T	C	18	59230397	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	6.89620940575505E-4	0.064
18	56897629	T	G	18	59230397	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.89825120058427	0.59
18	56897630	C	A	18	59230398	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.0075030891354799	0.38
18	56897630	C	G	18	59230398	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.0186959894223234	0.428
18	56897630	C	T	18	59230398	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.58013238934083E-4	0.07
18	56897631	T	A	18	59230399	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.988204249333247	0.736
18	56897631	T	C	18	59230399	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.0100799541577342	0.196
18	56897631	T	G	18	59230399	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.994249190608232	0.738
18	56897632	T	A	18	59230400	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	1.08850201652669E-4	0.028
18	56897632	T	C	18	59230400	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	3.1515886959785E-5	0.024
18	56897632	T	G	18	59230400	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	5.65766279192811E-4	0.03
18	56897633	A	C	18	59230401	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	4.79479293045656E-4	0.054
18	56897633	A	G	18	59230401	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	0.726617240323384	0.376
18	56897633	A	T	18	59230401	y	y	intronic	GRP	.	.	intronic	ENSG00000134443	.	.	7.18572933894339E-4	0.03
18	56897634	A	C	18	59230402	y	y	splicing	GRP(NM_002091:exon3:c.383-2A>C;NM_001012513:exon3:c.364-2A>C)	.	.	splicing	ENSG00000134443(ENST00000256857:exon3:c.383-2A>C;ENST00000529320:exon3:c.364-2A>C)	.	.	0.999971631640607	0.932
18	56897634	A	G	18	59230402	y	y	splicing	GRP(NM_002091:exon3:c.383-2A>G;NM_001012513:exon3:c.364-2A>G)	.	.	splicing	ENSG00000134443(ENST00000256857:exon3:c.383-2A>G;ENST00000529320:exon3:c.364-2A>G)	.	.	0.999971631640607	0.932
18	56897634	A	T	18	59230402	y	y	splicing	GRP(NM_002091:exon3:c.383-2A>T;NM_001012513:exon3:c.364-2A>T)	.	.	splicing	ENSG00000134443(ENST00000256857:exon3:c.383-2A>T;ENST00000529320:exon3:c.364-2A>T)	.	.	0.999971631640607	0.922
18	56897635	G	A	18	59230403	y	y	splicing	GRP(NM_002091:exon3:c.383-1G>A;NM_001012513:exon3:c.364-1G>A)	.	.	splicing	ENSG00000134443(ENST00000256857:exon3:c.383-1G>A;ENST00000529320:exon3:c.364-1G>A)	.	.	0.999955973256547	0.93
18	56897635	G	C	18	59230403	y	y	splicing	GRP(NM_002091:exon3:c.383-1G>C;NM_001012513:exon3:c.364-1G>C)	.	.	splicing	ENSG00000134443(ENST00000256857:exon3:c.383-1G>C;ENST00000529320:exon3:c.364-1G>C)	.	.	0.999956379184496	0.934
18	56897635	G	T	18	59230403	y	y	splicing	GRP(NM_002091:exon3:c.383-1G>T;NM_001012513:exon3:c.364-1G>T)	.	.	splicing	ENSG00000134443(ENST00000256857:exon3:c.383-1G>T;ENST00000529320:exon3:c.364-1G>T)	.	.	0.999956379184496	0.936
18	56897636	T	A	18	59230404	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon3:c.T364A:p.L122M;GRP:NM_002091:exon3:c.T383A:p.V128D;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000529320:exon3:c.T364A:p.L122M;ENSG00000134443:ENST00000256857:exon3:c.T383A:p.V128D;	2.67597530167608E-5	0.02
18	56897636	T	C	18	59230404	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_002091:exon3:c.T383C:p.V128A;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000256857:exon3:c.T383C:p.V128A;	9.32943714530853E-5	0.034
18	56897636	T	G	18	59230404	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon3:c.T364G:p.L122V;GRP:NM_002091:exon3:c.T383G:p.V128G;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000529320:exon3:c.T364G:p.L122V;ENSG00000134443:ENST00000256857:exon3:c.T383G:p.V128G;	1.78389075073014E-4	0.062
18	56897637	T	A	18	59230405	y	y	exonic	GRP	stopgain SNV	GRP:NM_001012513:exon3:c.T365A:p.L122X;	exonic	ENSG00000134443	stopgain SNV	ENSG00000134443:ENST00000529320:exon3:c.T365A:p.L122X;	0.14084438220721	0.378
18	56897637	T	C	18	59230405	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon3:c.T365C:p.L122S;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000529320:exon3:c.T365C:p.L122S;	0.0741602664047766	0.19
18	56897637	T	G	18	59230405	y	y	exonic	GRP	nonsynonymous SNV	GRP:NM_001012513:exon3:c.T365G:p.L122W;	exonic	ENSG00000134443	nonsynonymous SNV	ENSG00000134443:ENST00000529320:exon3:c.T365G:p.L122W;	0.0434700714685437	0.212
18	56936732	A	C	18	59269500	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon3:c.T545G:p.V182G;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon3:c.T545G:p.V182G;	5.60005032881646E-5	0.092
18	56936732	A	G	18	59269500	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon3:c.T545C:p.V182A;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon3:c.T545C:p.V182A;	7.64934554270557E-5	0.106
18	56936732	A	T	18	59269500	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon3:c.T545A:p.V182E;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon3:c.T545A:p.V182E;	5.06842423511783E-5	0.102
18	56936733	C	A	18	59269501	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon3:c.G544T:p.V182L;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon3:c.G544T:p.V182L;ENSG00000134438:ENST00000256852:exon2:c.G290T:p.G97V;	0.723259912642374	0.57
18	56936733	C	G	18	59269501	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon3:c.G544C:p.V182L;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon3:c.G544C:p.V182L;ENSG00000134438:ENST00000256852:exon2:c.G290C:p.G97A;	0.00498499643196717	0.25
18	56936733	C	T	18	59269501	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon3:c.G544A:p.V182M;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon3:c.G544A:p.V182M;ENSG00000134438:ENST00000256852:exon2:c.G290A:p.G97D;	0.0420908427755792	0.166
18	56936734	C	A	18	59269502	y	y	splicing	RAX(NM_013435:exon4:c.544-1G>T)	.	.	splicing	ENSG00000134438(ENST00000334889:exon4:c.544-1G>T;ENST00000256852:exon3:c.290-1G>T)	.	.	0.999991783345782	0.93
18	56936734	C	G	18	59269502	y	y	splicing	RAX(NM_013435:exon4:c.544-1G>C)	.	.	splicing	ENSG00000134438(ENST00000334889:exon4:c.544-1G>C;ENST00000256852:exon3:c.290-1G>C)	.	.	0.999991783345782	0.93
18	56936734	C	T	18	59269502	y	y	splicing	RAX(NM_013435:exon4:c.544-1G>A)	.	.	splicing	ENSG00000134438(ENST00000334889:exon4:c.544-1G>A;ENST00000256852:exon3:c.290-1G>A)	.	.	0.999991783345782	0.93
18	56936735	T	A	18	59269503	y	y	splicing	RAX(NM_013435:exon4:c.544-2A>T)	.	.	splicing	ENSG00000134438(ENST00000334889:exon4:c.544-2A>T;ENST00000256852:exon3:c.290-2A>T)	.	.	0.999991959366812	0.924
18	56936735	T	C	18	59269503	y	y	splicing	RAX(NM_013435:exon4:c.544-2A>G)	.	.	splicing	ENSG00000134438(ENST00000334889:exon4:c.544-2A>G;ENST00000256852:exon3:c.290-2A>G)	.	.	0.999989555203967	0.926
18	56936735	T	G	18	59269503	y	y	splicing	RAX(NM_013435:exon4:c.544-2A>C)	.	.	splicing	ENSG00000134438(ENST00000334889:exon4:c.544-2A>C;ENST00000256852:exon3:c.290-2A>C)	.	.	0.999989555203967	0.926
18	56936736	G	A	18	59269504	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.0166672051427376	0.166
18	56936736	G	C	18	59269504	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999518366041262	0.956
18	56936736	G	T	18	59269504	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.674872552960112	0.464
18	56936737	C	A	18	59269505	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	3.23289286128906E-5	0.008
18	56936737	C	G	18	59269505	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	3.21715196543626E-5	0.006
18	56936737	C	T	18	59269505	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	3.92580009903567E-5	0.002
18	56936738	A	C	18	59269506	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00441612210288966	0.16
18	56936738	A	G	18	59269506	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	9.74903786360255E-5	0.016
18	56936738	A	T	18	59269506	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.987024353269514	0.688
18	56936739	G	A	18	59269507	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.5118582850636E-5	0.0
18	56936739	G	C	18	59269507	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.70349046416477E-4	0.092
18	56936739	G	T	18	59269507	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	2.18913556143033E-4	0.138
18	56936740	G	A	18	59269508	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	2.43097211492355E-5	0.0
18	56936740	G	C	18	59269508	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	2.03129383344732E-4	0.01
18	56936740	G	T	18	59269508	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.77882763177185E-4	0.01
18	56936741	A	C	18	59269509	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	7.47575635121763E-5	0.022
18	56936741	A	G	18	59269509	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	7.80550256174286E-6	0.0
18	56936741	A	T	18	59269509	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	9.45049479992758E-5	0.016
18	56936742	G	A	18	59269510	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	6.16816322941346E-5	0.002
18	56936742	G	C	18	59269510	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	4.43787017841273E-4	0.06
18	56936742	G	T	18	59269510	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	9.80477962861803E-4	0.084
18	56936743	A	C	18	59269511	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.73973509034342E-4	0.084
18	56936743	A	G	18	59269511	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	5.8024147833723E-5	0.0
18	56936743	A	T	18	59269511	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00134345376961451	0.13
18	56936744	G	A	18	59269512	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.29813102614474E-5	0.0
18	56936744	G	C	18	59269512	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.36219637174027E-4	0.004
18	56936744	G	T	18	59269512	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.53671949230003E-4	0.012
18	56936745	A	C	18	59269513	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00212033114591188	0.128
18	56936745	A	G	18	59269513	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.7209680795137E-4	0.034
18	56936745	A	T	18	59269513	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00833265855520764	0.156
18	56939585	C	A	18	59272353	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	4.17124517450125E-5	0.006
18	56939585	C	G	18	59272353	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	2.33885350420409E-5	0.0
18	56939585	C	T	18	59272353	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	3.11932628162201E-5	0.0
18	56939586	G	A	18	59272354	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.62380125014688E-4	0.0
18	56939586	G	C	18	59272354	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	8.60992601680461E-5	0.0
18	56939586	G	T	18	59272354	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.81159136363845E-5	0.0
18	56939587	C	A	18	59272355	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.80985944609019E-5	0.0
18	56939587	C	G	18	59272355	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.24174483955182E-4	0.034
18	56939587	C	T	18	59272355	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	5.91176338246967E-5	0.0
18	56939588	T	A	18	59272356	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	3.09597624970259E-4	0.028
18	56939588	T	C	18	59272356	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	4.54368281275978E-5	0.036
18	56939588	T	G	18	59272356	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	7.44497147096125E-5	0.034
18	56939589	T	A	18	59272357	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999734335980448	0.924
18	56939589	T	C	18	59272357	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999888522739786	0.896
18	56939589	T	G	18	59272357	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999696420742634	0.95
18	56939590	T	A	18	59272358	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999867612658509	0.878
18	56939590	T	C	18	59272358	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999687044666474	0.9
18	56939590	T	G	18	59272358	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999975057942815	0.904
18	56939591	A	C	18	59272359	y	y	splicing	RAX(NM_013435:exon3:c.543+2T>G)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.543+2T>G)	.	.	0.999988247793601	0.932
18	56939591	A	G	18	59272359	y	y	splicing	RAX(NM_013435:exon3:c.543+2T>C)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.543+2T>C)	.	.	0.996388929962285	0.72
18	56939591	A	T	18	59272359	y	y	splicing	RAX(NM_013435:exon3:c.543+2T>A)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.543+2T>A)	.	.	0.999988247793601	0.932
18	56939592	C	A	18	59272360	y	y	splicing	RAX(NM_013435:exon3:c.543+1G>T)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.543+1G>T)	.	.	0.999990361384395	0.938
18	56939592	C	G	18	59272360	y	y	splicing	RAX(NM_013435:exon3:c.543+1G>C)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.543+1G>C)	.	.	0.999990361384395	0.938
18	56939592	C	T	18	59272360	y	y	splicing	RAX(NM_013435:exon3:c.543+1G>A)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.543+1G>A)	.	.	0.999990361384395	0.938
18	56939593	C	A	18	59272361	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.G543T:p.Q181H;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.G543T:p.Q181H;	0.999991239447877	1.0
18	56939593	C	G	18	59272361	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.G543C:p.Q181H;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.G543C:p.Q181H;	0.999998122414291	1.0
18	56939593	C	T	18	59272361	y	y	exonic	RAX	synonymous SNV	RAX:NM_013435:exon2:c.G543A:p.Q181Q;	exonic	ENSG00000134438	synonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.G543A:p.Q181Q;	0.999992696802642	1.0
18	56939594	T	A	18	59272362	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.A542T:p.Q181L;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.A542T:p.Q181L;	0.999955387744988	0.992
18	56939594	T	C	18	59272362	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.A542G:p.Q181R;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.A542G:p.Q181R;	0.999965026827045	0.996
18	56939594	T	G	18	59272362	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.A542C:p.Q181P;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.A542C:p.Q181P;	0.99994244194779	0.988
18	56939595	G	A	18	59272363	y	y	exonic	RAX	stopgain SNV	RAX:NM_013435:exon2:c.C541T:p.Q181X;	exonic	ENSG00000134438	stopgain SNV	ENSG00000134438:ENST00000334889:exon2:c.C541T:p.Q181X;	0.999677564308913	0.96
18	56939595	G	C	18	59272363	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.C541G:p.Q181E;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.C541G:p.Q181E;	0.964128802784519	0.706
18	56939595	G	T	18	59272363	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.C541A:p.Q181K;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.C541A:p.Q181K;	0.967432623419634	0.834
18	56939845	G	A	18	59272613	y	y	exonic	RAX	synonymous SNV	RAX:NM_013435:exon2:c.C291T:p.A97A;	exonic	ENSG00000134438	synonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.C291T:p.A97A;	1.36841170302102E-5	0.004
18	56939845	G	C	18	59272613	y	y	exonic	RAX	synonymous SNV	RAX:NM_013435:exon2:c.C291G:p.A97A;	exonic	ENSG00000134438	synonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.C291G:p.A97A;	1.06788038084878E-5	0.004
18	56939845	G	T	18	59272613	y	y	exonic	RAX	synonymous SNV	RAX:NM_013435:exon2:c.C291A:p.A97A;	exonic	ENSG00000134438	synonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.C291A:p.A97A;	5.51477908193598E-5	0.014
18	56939846	G	A	18	59272614	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.C290T:p.A97V;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.C290T:p.A97V;	3.0721320295284E-5	0.036
18	56939846	G	C	18	59272614	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.C290G:p.A97G;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.C290G:p.A97G;	7.30277401302254E-5	0.09
18	56939846	G	T	18	59272614	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon2:c.C290A:p.A97D;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon2:c.C290A:p.A97D;	1.45612225627207E-5	0.0
18	56939847	C	A	18	59272615	y	y	splicing	RAX(NM_013435:exon3:c.290-1G>T)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.290-1G>T)	.	.	0.999971413589071	0.888
18	56939847	C	G	18	59272615	y	y	splicing	RAX(NM_013435:exon3:c.290-1G>C)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.290-1G>C)	.	.	0.999971413589071	0.888
18	56939847	C	T	18	59272615	y	y	splicing	RAX(NM_013435:exon3:c.290-1G>A)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.290-1G>A)	.	.	0.999985410774408	0.896
18	56939848	T	A	18	59272616	y	y	splicing	RAX(NM_013435:exon3:c.290-2A>T)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.290-2A>T)	.	.	0.99989456260789	0.89
18	56939848	T	C	18	59272616	y	y	splicing	RAX(NM_013435:exon3:c.290-2A>G)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.290-2A>G)	.	.	0.99989456260789	0.904
18	56939848	T	G	18	59272616	y	y	splicing	RAX(NM_013435:exon3:c.290-2A>C)	.	.	splicing	ENSG00000134438(ENST00000334889:exon3:c.290-2A>C)	.	.	0.99989456260789	0.904
18	56939849	G	A	18	59272617	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.0212264639499425	0.224
18	56939849	G	C	18	59272617	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999745979091622	0.946
18	56939849	G	T	18	59272617	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.975154306718347	0.852
18	56939850	G	A	18	59272618	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00295316850533937	0.158
18	56939850	G	C	18	59272618	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00112841226036644	0.098
18	56939850	G	T	18	59272618	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	6.17670662140177E-4	0.072
18	56939851	G	A	18	59272619	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	5.2153915814711E-4	0.018
18	56939851	G	C	18	59272619	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.0132312267106944	0.156
18	56939851	G	T	18	59272619	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00836818947769753	0.132
18	56939852	G	A	18	59272620	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	8.99307381595914E-5	0.05
18	56939852	G	C	18	59272620	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00742772192111882	0.306
18	56939852	G	T	18	59272620	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00232692292248503	0.32
18	56939853	C	A	18	59272621	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.03682811317325E-4	0.042
18	56939853	C	G	18	59272621	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.31301716108945E-4	0.036
18	56939853	C	T	18	59272621	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.5153588199014E-4	0.016
18	56939854	G	A	18	59272622	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	5.41368869536903E-5	0.004
18	56939854	G	C	18	59272622	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	2.95086661803788E-4	0.074
18	56939854	G	T	18	59272622	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999730339843706	0.982
18	56939855	A	C	18	59272623	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.259489415014257	0.498
18	56939855	A	G	18	59272623	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00112404869880045	0.194
18	56939855	A	T	18	59272623	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.303060888744852	0.502
18	56939856	C	A	18	59272624	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	4.77278743563587E-5	0.048
18	56939856	C	G	18	59272624	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.1882283368147E-4	0.07
18	56939856	C	T	18	59272624	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.89745346039934E-4	0.03
18	56939857	G	A	18	59272625	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	1.77794257543471E-5	0.036
18	56939857	G	C	18	59272625	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00121805566414038	0.084
18	56939857	G	T	18	59272625	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.996816702362164	0.94
18	56939858	A	C	18	59272626	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.174668346905915	0.596
18	56939858	A	G	18	59272626	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00187190898307825	0.072
18	56939858	A	T	18	59272626	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.552617541269324	0.672
18	56940142	G	A	18	59272910	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	3.88563338073588E-5	0.0
18	56940142	G	C	18	59272910	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	3.88563338073588E-5	0.0
18	56940142	G	T	18	59272910	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	3.79641626898212E-5	0.0
18	56940143	C	A	18	59272911	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.0014373692668292	0.028
18	56940143	C	G	18	59272911	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00485294199818223	0.062
18	56940143	C	T	18	59272911	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00551348841050153	0.076
18	56940144	A	C	18	59272912	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.979760072517342	0.63
18	56940144	A	G	18	59272912	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.983613702178473	0.616
18	56940144	A	T	18	59272912	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.989124781646098	0.774
18	56940145	C	A	18	59272913	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999732552915119	0.854
18	56940145	C	G	18	59272913	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999311935700635	0.826
18	56940145	C	T	18	59272913	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.999732552915119	0.932
18	56940146	T	A	18	59272914	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.995089567531366	0.628
18	56940146	T	C	18	59272914	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.994630095726196	0.706
18	56940146	T	G	18	59272914	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.645109829800511	0.458
18	56940147	C	A	18	59272915	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.764541900898103	0.65
18	56940147	C	G	18	59272915	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.90328655931075	0.798
18	56940147	C	T	18	59272915	y	y	intronic	RAX	.	.	intronic	ENSG00000134438	.	.	0.00508203972079259	0.176
18	56940148	A	C	18	59272916	y	y	splicing	RAX(NM_013435:exon2:c.289+2T>G)	.	.	splicing	ENSG00000134438(ENST00000334889:exon2:c.289+2T>G;ENST00000256852:exon2:c.289+2T>G)	.	.	0.999981808176352	0.924
18	56940148	A	G	18	59272916	y	y	splicing	RAX(NM_013435:exon2:c.289+2T>C)	.	.	splicing	ENSG00000134438(ENST00000334889:exon2:c.289+2T>C;ENST00000256852:exon2:c.289+2T>C)	.	.	0.999949037476571	0.88
18	56940148	A	T	18	59272916	y	y	splicing	RAX(NM_013435:exon2:c.289+2T>A)	.	.	splicing	ENSG00000134438(ENST00000334889:exon2:c.289+2T>A;ENST00000256852:exon2:c.289+2T>A)	.	.	0.999981808176352	0.924
18	56940149	C	A	18	59272917	y	y	splicing	RAX(NM_013435:exon2:c.289+1G>T)	.	.	splicing	ENSG00000134438(ENST00000334889:exon2:c.289+1G>T;ENST00000256852:exon2:c.289+1G>T)	.	.	0.99999160924781	0.932
18	56940149	C	G	18	59272917	y	y	splicing	RAX(NM_013435:exon2:c.289+1G>C)	.	.	splicing	ENSG00000134438(ENST00000334889:exon2:c.289+1G>C;ENST00000256852:exon2:c.289+1G>C)	.	.	0.99999160924781	0.932
18	56940149	C	T	18	59272917	y	y	splicing	RAX(NM_013435:exon2:c.289+1G>A)	.	.	splicing	ENSG00000134438(ENST00000334889:exon2:c.289+1G>A;ENST00000256852:exon2:c.289+1G>A)	.	.	0.99999160924781	0.932
18	56940150	C	A	18	59272918	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon1:c.G289T:p.A97S;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.G289T:p.A97S;ENSG00000134438:ENST00000256852:exon1:c.G289T:p.G97C;	0.999758304037022	0.942
18	56940150	C	G	18	59272918	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon1:c.G289C:p.A97P;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.G289C:p.A97P;ENSG00000134438:ENST00000256852:exon1:c.G289C:p.G97R;	0.999832840474085	0.972
18	56940150	C	T	18	59272918	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon1:c.G289A:p.A97T;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.G289A:p.A97T;ENSG00000134438:ENST00000256852:exon1:c.G289A:p.G97S;	0.999950887704126	0.952
18	56940151	T	A	18	59272919	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon1:c.A288T:p.E96D;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.A288T:p.E96D;ENSG00000134438:ENST00000256852:exon1:c.A288T:p.E96D;	0.418979489560455	0.478
18	56940151	T	C	18	59272919	y	y	exonic	RAX	synonymous SNV	RAX:NM_013435:exon1:c.A288G:p.E96E;	exonic	ENSG00000134438	synonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.A288G:p.E96E;ENSG00000134438:ENST00000256852:exon1:c.A288G:p.E96E;	0.25337732298748	0.516
18	56940151	T	G	18	59272919	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon1:c.A288C:p.E96D;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.A288C:p.E96D;ENSG00000134438:ENST00000256852:exon1:c.A288C:p.E96D;	0.486621733159116	0.592
18	56940152	T	A	18	59272920	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon1:c.A287T:p.E96V;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.A287T:p.E96V;ENSG00000134438:ENST00000256852:exon1:c.A287T:p.E96V;	0.883704819717378	0.556
18	56940152	T	C	18	59272920	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon1:c.A287G:p.E96G;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.A287G:p.E96G;ENSG00000134438:ENST00000256852:exon1:c.A287G:p.E96G;	0.120364447909566	0.336
18	56940152	T	G	18	59272920	y	y	exonic	RAX	nonsynonymous SNV	RAX:NM_013435:exon1:c.A287C:p.E96A;	exonic	ENSG00000134438	nonsynonymous SNV	ENSG00000134438:ENST00000334889:exon1:c.A287C:p.E96A;ENSG00000134438:ENST00000256852:exon1:c.A287C:p.E96A;	0.583169662439786	0.516
18	56940463	C	A	18	59273231	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	7.33596820440618E-5	0.0
18	56940463	C	G	18	59273231	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	7.33596820440618E-5	0.0
18	56940463	C	T	18	59273231	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	7.33596820440618E-5	0.0
18	56940464	G	A	18	59273232	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	1.64857229448119E-4	0.004
18	56940464	G	C	18	59273232	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	1.82254846753964E-4	0.002
18	56940464	G	T	18	59273232	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	1.82254846753964E-4	0.002
18	56940465	C	A	18	59273233	n	y	UTR5	RAX	.	.	splicing	ENSG00000134438	.	.	9.34241895422928E-4	0.002
18	56940465	C	G	18	59273233	n	y	UTR5	RAX	.	.	splicing	ENSG00000134438	.	.	0.0010327499008663	0.002
18	56940465	C	T	18	59273233	n	y	UTR5	RAX	.	.	splicing	ENSG00000134438	.	.	9.34241895422928E-4	0.002
18	56940466	T	A	18	59273234	n	y	UTR5	RAX	.	.	splicing	ENSG00000134438	.	.	7.01315188657279E-5	0.002
18	56940466	T	C	18	59273234	n	y	UTR5	RAX	.	.	splicing	ENSG00000134438	.	.	7.01315188657279E-5	0.002
18	56940466	T	G	18	59273234	n	y	UTR5	RAX	.	.	splicing	ENSG00000134438	.	.	7.01315188657279E-5	0.002
18	56940467	T	A	18	59273235	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	1.58610291944236E-4	0.004
18	56940467	T	C	18	59273235	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	1.38652481526464E-4	0.0
18	56940467	T	G	18	59273235	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	1.38652481526464E-4	0.0
18	56940468	T	A	18	59273236	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	4.61157758343247E-5	0.0
18	56940468	T	C	18	59273236	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	4.61157758343247E-5	0.0
18	56940468	T	G	18	59273236	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	4.61157758343247E-5	0.0
18	56940469	G	A	18	59273237	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00100487064843151	0.002
18	56940469	G	C	18	59273237	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00116065968722173	0.002
18	56940469	G	T	18	59273237	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00116065968722173	0.002
18	56940470	G	A	18	59273238	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	2.33698758487849E-4	0.088
18	56940470	G	C	18	59273238	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	2.33698758487849E-4	0.018
18	56940470	G	T	18	59273238	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	2.33698758487849E-4	0.016
18	56940471	A	C	18	59273239	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	9.74046797087874E-5	0.0
18	56940471	A	G	18	59273239	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	9.74046797087874E-5	0.002
18	56940471	A	T	18	59273239	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	9.74046797087874E-5	0.0
18	56940472	G	A	18	59273240	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00573326044716969	0.014
18	56940472	G	C	18	59273240	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00573326044716969	0.012
18	56940472	G	T	18	59273240	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00573326044716969	0.016
18	56940473	A	C	18	59273241	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	2.13563380370127E-4	0.028
18	56940473	A	G	18	59273241	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	2.13563380370127E-4	0.03
18	56940473	A	T	18	59273241	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	2.13563380370127E-4	0.032
18	56940474	C	A	18	59273242	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	1.91285012458584E-4	0.006
18	56940474	C	G	18	59273242	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	2.243298286616E-4	0.008
18	56940474	C	T	18	59273242	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	1.91285012458584E-4	0.006
18	56940475	G	A	18	59273243	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	3.90066968634554E-5	0.008
18	56940475	G	C	18	59273243	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	3.90066968634554E-5	0.002
18	56940475	G	T	18	59273243	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	3.90066968634554E-5	0.002
18	56940476	G	A	18	59273244	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00573326044716969	0.014
18	56940476	G	C	18	59273244	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00573326044716969	0.012
18	56940476	G	T	18	59273244	n	y	UTR5	RAX	.	.	UTR5	ENSG00000134438	.	.	0.00573326044716969	0.016
18	56941086	T	A	18	59273854	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.6714355815838E-5	0.03
18	56941086	T	C	18	59273854	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.6714355815838E-5	0.0
18	56941086	T	G	18	59273854	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.6714355815838E-5	0.0
18	56941087	G	A	18	59273855	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	3.80326084273412E-5	0.012
18	56941087	G	C	18	59273855	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	3.80326084273412E-5	0.012
18	56941087	G	T	18	59273855	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	3.80326084273412E-5	0.012
18	56941088	G	A	18	59273856	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.10271979523956E-5	0.038
18	56941088	G	C	18	59273856	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	4.92542250322271E-5	0.04
18	56941088	G	T	18	59273856	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	4.92542250322271E-5	0.038
18	56941089	C	A	18	59273857	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	3.37565206783177E-5	0.012
18	56941089	C	G	18	59273857	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	4.07403771358457E-5	0.012
18	56941089	C	T	18	59273857	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	3.37565206783177E-5	0.012
18	56941090	T	A	18	59273858	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.69439264402225E-5	0.0
18	56941090	T	C	18	59273858	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.15941453541388E-5	0.0
18	56941090	T	G	18	59273858	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.15941453541388E-5	0.0
18	56941091	C	A	18	59273859	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.15941453541388E-5	0.002
18	56941091	C	G	18	59273859	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.15941453541388E-5	0.012
18	56941091	C	T	18	59273859	n	y	upstream	RAX	.	.	intronic	ENSG00000134438	.	.	5.15941453541388E-5	0.002
18	56941092	A	C	18	59273860	n	y	upstream	RAX	.	.	splicing	ENSG00000134438	.	.	4.08802802279601E-5	0.0
18	56941092	A	G	18	59273860	n	y	upstream	RAX	.	.	splicing	ENSG00000134438	.	.	4.08802802279601E-5	0.0
18	56941092	A	T	18	59273860	n	y	upstream	RAX	.	.	splicing	ENSG00000134438	.	.	8.49702646665041E-5	0.004
18	56941093	C	A	18	59273861	n	y	upstream	RAX	.	.	splicing	ENSG00000134438	.	.	6.09218706544067E-5	0.0
18	56941093	C	G	18	59273861	n	y	upstream	RAX	.	.	splicing	ENSG00000134438	.	.	7.3525528897954E-5	0.002
18	56941093	C	T	18	59273861	n	y	upstream	RAX	.	.	splicing	ENSG00000134438	.	.	6.09218706544067E-5	0.0
18	56941094	C	A	18	59273862	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	3.13536747317882E-5	0.012
18	56941094	C	G	18	59273862	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	3.02642503822698E-5	0.012
18	56941094	C	T	18	59273862	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	3.13536747317882E-5	0.012
18	56941095	T	A	18	59273863	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	9.40094287361931E-5	0.0
18	56941095	T	C	18	59273863	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	3.50312366030491E-5	0.0
18	56941095	T	G	18	59273863	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	3.50312366030491E-5	0.0
18	56941096	C	A	18	59273864	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	3.13536747317882E-5	0.002
18	56941096	C	G	18	59273864	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	3.13536747317882E-5	0.002
18	56941096	C	T	18	59273864	n	y	upstream	RAX	.	.	UTR5	ENSG00000134438	.	.	3.13536747317882E-5	0.002
18	56964156	C	A	18	59296924	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon3:c.G257T:p.S86I;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon3:c.G257T:p.S86I;	0.977545740737978	0.888
18	56964156	C	G	18	59296924	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon3:c.G257C:p.S86T;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon3:c.G257C:p.S86T;	0.978834773989646	0.896
18	56964156	C	T	18	59296924	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon3:c.G257A:p.S86N;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon3:c.G257A:p.S86N;	0.979013041562601	0.72
18	56964157	T	A	18	59296925	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon3:c.A256T:p.S86C;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon3:c.A256T:p.S86C;	0.167556990981165	0.398
18	56964157	T	C	18	59296925	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon3:c.A256G:p.S86G;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon3:c.A256G:p.S86G;	0.54833219671844	0.638
18	56964157	T	G	18	59296925	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon3:c.A256C:p.S86R;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon3:c.A256C:p.S86R;	0.21355155267129	0.538
18	56964158	C	A	18	59296926	y	y	splicing	CPLX4(NM_181654:exon4:c.256-1G>T)	.	.	splicing	ENSG00000166569(ENST00000299721:exon4:c.256-1G>T)	.	.	0.999993148181228	0.928
18	56964158	C	G	18	59296926	y	y	splicing	CPLX4(NM_181654:exon4:c.256-1G>C)	.	.	splicing	ENSG00000166569(ENST00000299721:exon4:c.256-1G>C)	.	.	0.999993148181228	0.928
18	56964158	C	T	18	59296926	y	y	splicing	CPLX4(NM_181654:exon4:c.256-1G>A)	.	.	splicing	ENSG00000166569(ENST00000299721:exon4:c.256-1G>A)	.	.	0.999993148181228	0.928
18	56964159	T	A	18	59296927	y	y	splicing	CPLX4(NM_181654:exon4:c.256-2A>T)	.	.	splicing	ENSG00000166569(ENST00000299721:exon4:c.256-2A>T)	.	.	0.999988247793601	0.928
18	56964159	T	C	18	59296927	y	y	splicing	CPLX4(NM_181654:exon4:c.256-2A>G)	.	.	splicing	ENSG00000166569(ENST00000299721:exon4:c.256-2A>G)	.	.	0.999988247793601	0.926
18	56964159	T	G	18	59296927	y	y	splicing	CPLX4(NM_181654:exon4:c.256-2A>C)	.	.	splicing	ENSG00000166569(ENST00000299721:exon4:c.256-2A>C)	.	.	0.999988247793601	0.926
18	56964160	A	C	18	59296928	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.925743181919412	0.676
18	56964160	A	G	18	59296928	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	6.47408617713391E-5	0.0
18	56964160	A	T	18	59296928	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.00782871599287829	0.318
18	56964161	T	A	18	59296929	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	3.35755928207001E-5	0.0
18	56964161	T	C	18	59296929	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	3.43508121803262E-5	0.0
18	56964161	T	G	18	59296929	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	1.81305451181459E-5	0.006
18	56964162	G	A	18	59296930	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	8.25204947159058E-5	0.0
18	56964162	G	C	18	59296930	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.99989953734598	0.966
18	56964162	G	T	18	59296930	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	8.67707905844147E-4	0.05
18	56964163	T	A	18	59296931	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	2.0291873933743E-5	0.0
18	56964163	T	C	18	59296931	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	8.24638199792503E-5	0.0
18	56964163	T	G	18	59296931	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	3.34085185569519E-5	0.022
18	56964164	G	A	18	59296932	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	2.21089887319713E-5	0.002
18	56964164	G	C	18	59296932	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	2.39370680653388E-4	0.052
18	56964164	G	T	18	59296932	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	5.90540786967593E-4	0.052
18	56964165	A	C	18	59296933	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.00433552623232215	0.142
18	56964165	A	G	18	59296933	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	3.50907125660085E-5	0.0
18	56964165	A	T	18	59296933	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.129037537172625	0.134
18	56964166	A	C	18	59296934	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0091894515711054	0.106
18	56964166	A	G	18	59296934	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	4.28522203040994E-5	0.0
18	56964166	A	T	18	59296934	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.00631346020965374	0.086
18	56964167	A	C	18	59296935	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0210459566650013	0.302
18	56964167	A	G	18	59296935	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	4.10995854032679E-5	0.008
18	56964167	A	T	18	59296935	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.163207139163483	0.392
18	56964168	A	C	18	59296936	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.237205298718	0.584
18	56964168	A	G	18	59296936	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	8.77795353900821E-4	0.09
18	56964168	A	T	18	59296936	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.545413759211646	0.618
18	56964169	A	C	18	59296937	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.999963147792968	0.968
18	56964169	A	G	18	59296937	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	9.07336715037246E-5	0.018
18	56964169	A	T	18	59296937	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.00916712245204714	0.24
18	56979909	T	A	18	59312677	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	6.36340088948343E-5	0.0
18	56979909	T	C	18	59312677	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	3.06147959360663E-5	0.002
18	56979909	T	G	18	59312677	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	2.28941877786392E-5	0.002
18	56979910	G	A	18	59312678	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	9.09417445992413E-5	0.0
18	56979910	G	C	18	59312678	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	4.95612518604244E-5	0.0
18	56979910	G	T	18	59312678	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	7.17029124203775E-5	0.0
18	56979911	T	A	18	59312679	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	5.00840838823829E-5	0.008
18	56979911	T	C	18	59312679	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	9.25516450589247E-5	0.008
18	56979911	T	G	18	59312679	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	1.56832529685364E-4	0.024
18	56979912	C	A	18	59312680	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.992397828167028	0.656
18	56979912	C	G	18	59312680	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.886198524269153	0.692
18	56979912	C	T	18	59312680	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.988704082085798	0.746
18	56979913	T	A	18	59312681	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.98988434829161	0.868
18	56979913	T	C	18	59312681	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.987119925738795	0.874
18	56979913	T	G	18	59312681	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.982119929244888	0.856
18	56979914	T	A	18	59312682	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.888691612364621	0.67
18	56979914	T	C	18	59312682	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.073164632515211	0.32
18	56979914	T	G	18	59312682	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.976736305126925	0.74
18	56979915	A	C	18	59312683	y	y	splicing	CPLX4(NM_181654:exon3:c.255+2T>G)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.255+2T>G;ENST00000299721:exon3:c.255+2T>G)	.	.	0.999988247793601	0.928
18	56979915	A	G	18	59312683	y	y	splicing	CPLX4(NM_181654:exon3:c.255+2T>C)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.255+2T>C;ENST00000299721:exon3:c.255+2T>C)	.	.	0.99340600729494	0.63
18	56979915	A	T	18	59312683	y	y	splicing	CPLX4(NM_181654:exon3:c.255+2T>A)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.255+2T>A;ENST00000299721:exon3:c.255+2T>A)	.	.	0.999988247793601	0.928
18	56979916	C	A	18	59312684	y	y	splicing	CPLX4(NM_181654:exon3:c.255+1G>T)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.255+1G>T;ENST00000299721:exon3:c.255+1G>T)	.	.	0.999985532734767	0.936
18	56979916	C	G	18	59312684	y	y	splicing	CPLX4(NM_181654:exon3:c.255+1G>C)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.255+1G>C;ENST00000299721:exon3:c.255+1G>C)	.	.	0.999985532734767	0.936
18	56979916	C	T	18	59312684	y	y	splicing	CPLX4(NM_181654:exon3:c.255+1G>A)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.255+1G>A;ENST00000299721:exon3:c.255+1G>A)	.	.	0.999985532734767	0.936
18	56979917	C	A	18	59312685	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.G255T:p.K85N;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.G255T:p.K85N;ENSG00000166569:ENST00000587244:exon2:c.G255T:p.K85N;	0.999805136077981	0.986
18	56979917	C	G	18	59312685	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.G255C:p.K85N;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.G255C:p.K85N;ENSG00000166569:ENST00000587244:exon2:c.G255C:p.K85N;	0.999922128382534	0.978
18	56979917	C	T	18	59312685	y	y	exonic	CPLX4	synonymous SNV	CPLX4:NM_181654:exon2:c.G255A:p.K85K;	exonic	ENSG00000166569	synonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.G255A:p.K85K;ENSG00000166569:ENST00000587244:exon2:c.G255A:p.K85K;	0.99962748199221	0.992
18	56979918	T	A	18	59312686	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.A254T:p.K85M;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.A254T:p.K85M;ENSG00000166569:ENST00000587244:exon2:c.A254T:p.K85M;	0.988761515040507	0.71
18	56979918	T	C	18	59312686	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.A254G:p.K85R;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.A254G:p.K85R;ENSG00000166569:ENST00000587244:exon2:c.A254G:p.K85R;	0.996222839944142	0.946
18	56979918	T	G	18	59312686	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.A254C:p.K85T;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.A254C:p.K85T;ENSG00000166569:ENST00000587244:exon2:c.A254C:p.K85T;	0.993308387779314	0.914
18	56979919	T	A	18	59312687	y	y	exonic	CPLX4	stopgain SNV	CPLX4:NM_181654:exon2:c.A253T:p.K85X;	exonic	ENSG00000166569	stopgain SNV	ENSG00000166569:ENST00000299721:exon2:c.A253T:p.K85X;ENSG00000166569:ENST00000587244:exon2:c.A253T:p.K85X;	0.948580549437506	0.598
18	56979919	T	C	18	59312687	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.A253G:p.K85E;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.A253G:p.K85E;ENSG00000166569:ENST00000587244:exon2:c.A253G:p.K85E;	0.210235276386136	0.336
18	56979919	T	G	18	59312687	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.A253C:p.K85Q;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.A253C:p.K85Q;ENSG00000166569:ENST00000587244:exon2:c.A253C:p.K85Q;	0.540354718900755	0.474
18	56980003	T	A	18	59312771	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.A169T:p.M57L;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.A169T:p.M57L;ENSG00000166569:ENST00000587244:exon2:c.A169T:p.M57L;	0.26862960290211	0.544
18	56980003	T	C	18	59312771	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.A169G:p.M57V;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.A169G:p.M57V;ENSG00000166569:ENST00000587244:exon2:c.A169G:p.M57V;	0.323294216090524	0.632
18	56980003	T	G	18	59312771	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.A169C:p.M57L;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.A169C:p.M57L;ENSG00000166569:ENST00000587244:exon2:c.A169C:p.M57L;	0.321710214197161	0.562
18	56980004	C	A	18	59312772	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.G168T:p.K56N;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.G168T:p.K56N;ENSG00000166569:ENST00000587244:exon2:c.G168T:p.K56N;	0.998952438580094	0.954
18	56980004	C	G	18	59312772	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon2:c.G168C:p.K56N;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.G168C:p.K56N;ENSG00000166569:ENST00000587244:exon2:c.G168C:p.K56N;	0.990929834438781	0.916
18	56980004	C	T	18	59312772	y	y	exonic	CPLX4	synonymous SNV	CPLX4:NM_181654:exon2:c.G168A:p.K56K;	exonic	ENSG00000166569	synonymous SNV	ENSG00000166569:ENST00000299721:exon2:c.G168A:p.K56K;ENSG00000166569:ENST00000587244:exon2:c.G168A:p.K56K;	0.0887908204883268	0.304
18	56980005	C	A	18	59312773	y	y	splicing	CPLX4(NM_181654:exon3:c.168-1G>T)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.168-1G>T;ENST00000299721:exon3:c.168-1G>T)	.	.	0.999986675681007	0.934
18	56980005	C	G	18	59312773	y	y	splicing	CPLX4(NM_181654:exon3:c.168-1G>C)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.168-1G>C;ENST00000299721:exon3:c.168-1G>C)	.	.	0.999986675681007	0.934
18	56980005	C	T	18	59312773	y	y	splicing	CPLX4(NM_181654:exon3:c.168-1G>A)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.168-1G>A;ENST00000299721:exon3:c.168-1G>A)	.	.	0.999986675681007	0.934
18	56980006	T	A	18	59312774	y	y	splicing	CPLX4(NM_181654:exon3:c.168-2A>T)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.168-2A>T;ENST00000299721:exon3:c.168-2A>T)	.	.	0.999989917668626	0.928
18	56980006	T	C	18	59312774	y	y	splicing	CPLX4(NM_181654:exon3:c.168-2A>G)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.168-2A>G;ENST00000299721:exon3:c.168-2A>G)	.	.	0.999989917668626	0.928
18	56980006	T	G	18	59312774	y	y	splicing	CPLX4(NM_181654:exon3:c.168-2A>C)	.	.	splicing	ENSG00000166569(ENST00000587244:exon3:c.168-2A>C;ENST00000299721:exon3:c.168-2A>C)	.	.	0.999989917668626	0.928
18	56980007	A	C	18	59312775	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.986405058958893	0.81
18	56980007	A	G	18	59312775	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	3.17019398328444E-4	0.008
18	56980007	A	T	18	59312775	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0773711629005212	0.256
18	56980008	A	C	18	59312776	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	5.79076720020941E-4	0.07
18	56980008	A	G	18	59312776	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	6.44676062960729E-5	0.008
18	56980008	A	T	18	59312776	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	1.99564694325282E-4	0.014
18	56980009	A	C	18	59312777	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.990161660652957	0.826
18	56980009	A	G	18	59312777	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0316765815195142	0.154
18	56980009	A	T	18	59312777	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.990945889323541	0.808
18	56980010	A	C	18	59312778	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.99227816063368	0.894
18	56980010	A	G	18	59312778	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.00728278256108157	0.314
18	56980010	A	T	18	59312778	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.991206904605381	0.81
18	56980011	G	A	18	59312779	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.00220197484796373	0.032
18	56980011	G	C	18	59312779	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.999794094941857	0.916
18	56980011	G	T	18	59312779	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.328687758116318	0.288
18	56980012	T	A	18	59312780	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	8.69287851095176E-5	0.002
18	56980012	T	C	18	59312780	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.998772169121825	0.952
18	56980012	T	G	18	59312780	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	1.10506588846517E-4	0.002
18	56980013	T	A	18	59312781	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	3.46034729953195E-5	0.004
18	56980013	T	C	18	59312781	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	6.44599834630432E-5	0.036
18	56980013	T	G	18	59312781	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	5.58311796669595E-5	0.002
18	56980014	A	C	18	59312782	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.99472060713973	0.818
18	56980014	A	G	18	59312782	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0428931964966037	0.306
18	56980014	A	T	18	59312782	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.997628055265373	0.86
18	56980015	A	C	18	59312783	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.983794279110745	0.698
18	56980015	A	G	18	59312783	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0655710411478125	0.25
18	56980015	A	T	18	59312783	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.988612293632488	0.738
18	56980016	A	C	18	59312784	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.997201069156582	0.87
18	56980016	A	G	18	59312784	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0402523583081754	0.298
18	56980016	A	T	18	59312784	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.998077540495992	0.87
18	56985520	G	A	18	59318288	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0113929174166547	0.054
18	56985520	G	C	18	59318288	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0112107468496572	0.044
18	56985520	G	T	18	59318288	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.0114711912866896	0.042
18	56985521	T	A	18	59318289	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	5.87014538048421E-4	0.028
18	56985521	T	C	18	59318289	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	6.86936549606267E-4	0.016
18	56985521	T	G	18	59318289	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	6.78380969718112E-4	0.002
18	56985522	A	C	18	59318290	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.992732700184815	0.926
18	56985522	A	G	18	59318290	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.996573027448284	0.9
18	56985522	A	T	18	59318290	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.99499548942664	0.826
18	56985523	C	A	18	59318291	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.999965845723167	0.986
18	56985523	C	G	18	59318291	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.999912679427675	0.99
18	56985523	C	T	18	59318291	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.999963856395248	0.998
18	56985524	T	A	18	59318292	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.999052398988	0.956
18	56985524	T	C	18	59318292	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.998895439992854	0.998
18	56985524	T	G	18	59318292	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.998335441102703	0.946
18	56985525	C	A	18	59318293	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.999496414910732	0.746
18	56985525	C	G	18	59318293	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.999921899339196	0.81
18	56985525	C	T	18	59318293	y	y	intronic	CPLX4	.	.	intronic	ENSG00000166569	.	.	0.00376769122148276	0.056
18	56985526	A	C	18	59318294	y	y	splicing	CPLX4(NM_181654:exon2:c.167+2T>G)	.	.	splicing	ENSG00000166569(ENST00000587244:exon2:c.167+2T>G;ENST00000299721:exon2:c.167+2T>G)	.	.	0.999988247793601	0.928
18	56985526	A	G	18	59318294	y	y	splicing	CPLX4(NM_181654:exon2:c.167+2T>C)	.	.	splicing	ENSG00000166569(ENST00000587244:exon2:c.167+2T>C;ENST00000299721:exon2:c.167+2T>C)	.	.	0.999929727175276	0.858
18	56985526	A	T	18	59318294	y	y	splicing	CPLX4(NM_181654:exon2:c.167+2T>A)	.	.	splicing	ENSG00000166569(ENST00000587244:exon2:c.167+2T>A;ENST00000299721:exon2:c.167+2T>A)	.	.	0.999988247793601	0.928
18	56985527	C	A	18	59318295	y	y	splicing	CPLX4(NM_181654:exon2:c.167+1G>T)	.	.	splicing	ENSG00000166569(ENST00000587244:exon2:c.167+1G>T;ENST00000299721:exon2:c.167+1G>T)	.	.	0.999985532734767	0.936
18	56985527	C	G	18	59318295	y	y	splicing	CPLX4(NM_181654:exon2:c.167+1G>C)	.	.	splicing	ENSG00000166569(ENST00000587244:exon2:c.167+1G>C;ENST00000299721:exon2:c.167+1G>C)	.	.	0.999985532734767	0.936
18	56985527	C	T	18	59318295	y	y	splicing	CPLX4(NM_181654:exon2:c.167+1G>A)	.	.	splicing	ENSG00000166569(ENST00000587244:exon2:c.167+1G>A;ENST00000299721:exon2:c.167+1G>A)	.	.	0.999985532734767	0.936
18	56985528	T	A	18	59318296	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon1:c.A167T:p.K56M;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon1:c.A167T:p.K56M;ENSG00000166569:ENST00000587244:exon1:c.A167T:p.K56M;	0.675154497150153	0.698
18	56985528	T	C	18	59318296	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon1:c.A167G:p.K56R;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon1:c.A167G:p.K56R;ENSG00000166569:ENST00000587244:exon1:c.A167G:p.K56R;	0.292481793097623	0.362
18	56985528	T	G	18	59318296	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon1:c.A167C:p.K56T;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon1:c.A167C:p.K56T;ENSG00000166569:ENST00000587244:exon1:c.A167C:p.K56T;	0.763473292903057	0.794
18	56985529	T	A	18	59318297	y	y	exonic	CPLX4	stopgain SNV	CPLX4:NM_181654:exon1:c.A166T:p.K56X;	exonic	ENSG00000166569	stopgain SNV	ENSG00000166569:ENST00000299721:exon1:c.A166T:p.K56X;ENSG00000166569:ENST00000587244:exon1:c.A166T:p.K56X;	0.999861366260301	0.988
18	56985529	T	C	18	59318297	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon1:c.A166G:p.K56E;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon1:c.A166G:p.K56E;ENSG00000166569:ENST00000587244:exon1:c.A166G:p.K56E;	0.999863090319465	0.996
18	56985529	T	G	18	59318297	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon1:c.A166C:p.K56Q;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon1:c.A166C:p.K56Q;ENSG00000166569:ENST00000587244:exon1:c.A166C:p.K56Q;	0.999434903054733	0.958
18	56985530	C	A	18	59318298	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon1:c.G165T:p.E55D;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon1:c.G165T:p.E55D;ENSG00000166569:ENST00000587244:exon1:c.G165T:p.E55D;	0.00210547986640935	0.224
18	56985530	C	G	18	59318298	y	y	exonic	CPLX4	nonsynonymous SNV	CPLX4:NM_181654:exon1:c.G165C:p.E55D;	exonic	ENSG00000166569	nonsynonymous SNV	ENSG00000166569:ENST00000299721:exon1:c.G165C:p.E55D;ENSG00000166569:ENST00000587244:exon1:c.G165C:p.E55D;	1.2816856531259E-4	0.2
18	56985530	C	T	18	59318298	y	y	exonic	CPLX4	synonymous SNV	CPLX4:NM_181654:exon1:c.G165A:p.E55E;	exonic	ENSG00000166569	synonymous SNV	ENSG00000166569:ENST00000299721:exon1:c.G165A:p.E55E;ENSG00000166569:ENST00000587244:exon1:c.G165A:p.E55E;	7.86141280896702E-5	0.002
18	56998360	A	C	18	59331128	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon13:c.T1498G:p.S500A;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon13:c.T1498G:p.S500A;	8.96704685193148E-5	0.002
18	56998360	A	G	18	59331128	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon13:c.T1498C:p.S500P;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon13:c.T1498C:p.S500P;	2.71832305014109E-4	0.034
18	56998360	A	T	18	59331128	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon13:c.T1498A:p.S500T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon13:c.T1498A:p.S500T;	2.44143020194281E-4	0.014
18	56998361	C	A	18	59331129	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon13:c.G1497T:p.R499S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon13:c.G1497T:p.R499S;	0.969308336392107	0.828
18	56998361	C	G	18	59331129	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon13:c.G1497C:p.R499S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon13:c.G1497C:p.R499S;	0.976192279351533	0.792
18	56998361	C	T	18	59331129	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon13:c.G1497A:p.R499R;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon13:c.G1497A:p.R499R;	0.132185407063497	0.314
18	56998362	C	A	18	59331130	y	y	splicing	LMAN1(NM_005570:exon14:c.1497-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon14:c.1497-1G>T)	.	.	0.999987816357178	0.936
18	56998362	C	G	18	59331130	y	y	splicing	LMAN1(NM_005570:exon14:c.1497-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon14:c.1497-1G>C)	.	.	0.999987816357178	0.934
18	56998362	C	T	18	59331130	y	y	splicing	LMAN1(NM_005570:exon14:c.1497-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon14:c.1497-1G>A)	.	.	0.999985049771335	0.934
18	56998363	T	A	18	59331131	y	y	splicing	LMAN1(NM_005570:exon14:c.1497-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon14:c.1497-2A>T)	.	.	0.99994568797423	0.93
18	56998363	T	C	18	59331131	y	y	splicing	LMAN1(NM_005570:exon14:c.1497-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon14:c.1497-2A>G)	.	.	0.99994568797423	0.934
18	56998363	T	G	18	59331131	y	y	splicing	LMAN1(NM_005570:exon14:c.1497-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon14:c.1497-2A>C)	.	.	0.99994568797423	0.934
18	56998364	A	C	18	59331132	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.991110743246871	0.616
18	56998364	A	G	18	59331132	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.07478913825584E-5	0.038
18	56998364	A	T	18	59331132	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00308211080638979	0.174
18	56998365	A	C	18	59331133	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0736078515826658	0.502
18	56998365	A	G	18	59331133	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.5715463214703E-6	0.006
18	56998365	A	T	18	59331133	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.83566659123995E-5	0.002
18	56998366	T	A	18	59331134	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.69874958879667E-5	0.004
18	56998366	T	C	18	59331134	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.26953415208995E-5	0.002
18	56998366	T	G	18	59331134	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.91234967260045E-6	0.0
18	56998367	G	A	18	59331135	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.35139927342044E-5	0.0
18	56998367	G	C	18	59331135	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.20216514277555E-4	0.066
18	56998367	G	T	18	59331135	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.59057874531613E-4	0.09
18	56998368	A	C	18	59331136	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.68662654182892E-4	0.03
18	56998368	A	G	18	59331136	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.1263527483314E-5	0.002
18	56998368	A	T	18	59331136	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.25294086873893E-4	0.038
18	56998369	A	C	18	59331137	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.1328567738106E-4	0.052
18	56998369	A	G	18	59331137	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.13991444143209E-5	0.006
18	56998369	A	T	18	59331137	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.14766344174058E-4	0.06
18	56998370	A	C	18	59331138	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.68254094006271E-4	0.086
18	56998370	A	G	18	59331138	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.93501943757294E-4	0.024
18	56998370	A	T	18	59331138	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.50572456764027E-4	0.082
18	56998371	A	C	18	59331139	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.46041633776213E-4	0.12
18	56998371	A	G	18	59331139	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.84437607069392E-5	0.012
18	56998371	A	T	18	59331139	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.90103687277552E-4	0.084
18	56998372	A	C	18	59331140	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0106824763218242	0.25
18	56998372	A	G	18	59331140	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0119108607252192	0.084
18	56998372	A	T	18	59331140	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0186006196746591	0.318
18	56998373	A	C	18	59331141	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.10697623703875E-5	0.088
18	56998373	A	G	18	59331141	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.40049934254223E-5	0.008
18	56998373	A	T	18	59331141	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.68638181719908E-4	0.052
18	56998642	A	C	18	59331410	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.73295316250246E-4	0.046
18	56998642	A	G	18	59331410	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.73295316250246E-4	0.034
18	56998642	A	T	18	59331410	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.05449491837998E-4	0.04
18	56998643	G	A	18	59331411	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.70400608710468E-5	0.0
18	56998643	G	C	18	59331411	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.54138519276573E-5	0.0
18	56998643	G	T	18	59331411	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.81891314079724E-5	0.0
18	56998644	A	C	18	59331412	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.42680357376528E-4	0.064
18	56998644	A	G	18	59331412	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00140940550701863	0.108
18	56998644	A	T	18	59331412	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00121515464051581	0.088
18	56998645	C	A	18	59331413	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.835096012562944	0.546
18	56998645	C	G	18	59331413	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.927866786303804	0.794
18	56998645	C	T	18	59331413	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.919306773299306	0.772
18	56998646	T	A	18	59331414	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.102811809414217	0.296
18	56998646	T	C	18	59331414	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.290590819505463	0.388
18	56998646	T	G	18	59331414	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0801353836110102	0.284
18	56998647	T	A	18	59331415	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.256475465381578	0.354
18	56998647	T	C	18	59331415	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.65768856845929E-4	0.002
18	56998647	T	G	18	59331415	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.30457968406642	0.372
18	56998648	A	C	18	59331416	y	y	splicing	LMAN1(NM_005570:exon13:c.1496+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1496+2T>G)	.	.	0.99994568797423	0.936
18	56998648	A	G	18	59331416	y	y	splicing	LMAN1(NM_005570:exon13:c.1496+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1496+2T>C)	.	.	0.982106279493755	0.668
18	56998648	A	T	18	59331416	y	y	splicing	LMAN1(NM_005570:exon13:c.1496+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1496+2T>A)	.	.	0.99994568797423	0.928
18	56998649	C	A	18	59331417	y	y	splicing	LMAN1(NM_005570:exon13:c.1496+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1496+1G>T)	.	.	0.999938422912956	0.93
18	56998649	C	G	18	59331417	y	y	splicing	LMAN1(NM_005570:exon13:c.1496+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1496+1G>C)	.	.	0.999938422912956	0.932
18	56998649	C	T	18	59331417	y	y	splicing	LMAN1(NM_005570:exon13:c.1496+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1496+1G>A)	.	.	0.999976137096505	0.93
18	56998650	C	A	18	59331418	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.G1496T:p.R499M;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.G1496T:p.R499M;	0.999626810402465	0.956
18	56998650	C	G	18	59331418	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.G1496C:p.R499T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.G1496C:p.R499T;	0.999720538975547	0.92
18	56998650	C	T	18	59331418	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.G1496A:p.R499K;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.G1496A:p.R499K;	0.978953024325377	0.588
18	56998651	T	A	18	59331419	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.A1495T:p.R499W;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.A1495T:p.R499W;	0.613026430705434	0.518
18	56998651	T	C	18	59331419	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.A1495G:p.R499G;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.A1495G:p.R499G;	0.69969245427496	0.598
18	56998651	T	G	18	59331419	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon12:c.A1495C:p.R499R;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.A1495C:p.R499R;	0.121964139236311	0.446
18	56998652	A	C	18	59331420	y	y	exonic	LMAN1	stopgain SNV	LMAN1:NM_005570:exon12:c.T1494G:p.Y498X;	exonic	ENSG00000074695	stopgain SNV	ENSG00000074695:ENST00000251047:exon12:c.T1494G:p.Y498X;	9.89933795669522E-5	0.148
18	56998652	A	G	18	59331420	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon12:c.T1494C:p.Y498Y;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.T1494C:p.Y498Y;	3.16328029303089E-5	0.0
18	56998652	A	T	18	59331420	y	y	exonic	LMAN1	stopgain SNV	LMAN1:NM_005570:exon12:c.T1494A:p.Y498X;	exonic	ENSG00000074695	stopgain SNV	ENSG00000074695:ENST00000251047:exon12:c.T1494A:p.Y498X;	4.42790163453545E-5	0.182
18	56998770	G	A	18	59331538	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.C1376T:p.P459L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.C1376T:p.P459L;	2.20708336725862E-5	0.018
18	56998770	G	C	18	59331538	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.C1376G:p.P459R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.C1376G:p.P459R;	2.67315281567432E-5	0.012
18	56998770	G	T	18	59331538	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.C1376A:p.P459Q;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.C1376A:p.P459Q;	2.09183860475055E-4	0.01
18	56998771	G	A	18	59331539	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.C1375T:p.P459S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.C1375T:p.P459S;	0.0121617977117807	0.404
18	56998771	G	C	18	59331539	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.C1375G:p.P459A;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.C1375G:p.P459A;	5.14512047844376E-4	0.21
18	56998771	G	T	18	59331539	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon12:c.C1375A:p.P459T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon12:c.C1375A:p.P459T;	0.00178370326152617	0.028
18	56998772	C	A	18	59331540	y	y	splicing	LMAN1(NM_005570:exon13:c.1375-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1375-1G>T)	.	.	0.999982514687838	0.914
18	56998772	C	G	18	59331540	y	y	splicing	LMAN1(NM_005570:exon13:c.1375-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1375-1G>C)	.	.	0.999982053052994	0.888
18	56998772	C	T	18	59331540	y	y	splicing	LMAN1(NM_005570:exon13:c.1375-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1375-1G>A)	.	.	0.999981513183847	0.916
18	56998773	T	A	18	59331541	y	y	splicing	LMAN1(NM_005570:exon13:c.1375-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1375-2A>T)	.	.	0.999957711392063	0.954
18	56998773	T	C	18	59331541	y	y	splicing	LMAN1(NM_005570:exon13:c.1375-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1375-2A>G)	.	.	0.999972413313263	0.952
18	56998773	T	G	18	59331541	y	y	splicing	LMAN1(NM_005570:exon13:c.1375-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon13:c.1375-2A>C)	.	.	0.999972413313263	0.952
18	56998774	G	A	18	59331542	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00400563813741295	0.164
18	56998774	G	C	18	59331542	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.994760911754544	0.568
18	56998774	G	T	18	59331542	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.862158373492475	0.472
18	56998775	T	A	18	59331543	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.91257075451336E-5	0.12
18	56998775	T	C	18	59331543	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.72104290438715E-4	0.036
18	56998775	T	G	18	59331543	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.62696865211469E-4	0.036
18	56998776	A	C	18	59331544	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.122730531981799	0.272
18	56998776	A	G	18	59331544	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00117221184682547	0.098
18	56998776	A	T	18	59331544	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.387705942931712	0.296
18	56998777	A	C	18	59331545	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.992962841933494	0.714
18	56998777	A	G	18	59331545	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.77460220582846E-4	0.16
18	56998777	A	T	18	59331545	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.958124956290619	0.69
18	56998778	G	A	18	59331546	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.50762261333673E-5	0.016
18	56998778	G	C	18	59331546	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00107294245099486	0.126
18	56998778	G	T	18	59331546	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0389099626323746	0.216
18	56998779	G	A	18	59331547	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.03134075106439E-5	0.0
18	56998779	G	C	18	59331547	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00653558869907041	0.118
18	56998779	G	T	18	59331547	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0026879009444569	0.1
18	56998780	C	A	18	59331548	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.06014406507827E-4	0.058
18	56998780	C	G	18	59331548	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.23701759134494E-4	0.02
18	56998780	C	T	18	59331548	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00106072648413753	0.172
18	56998781	A	C	18	59331549	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.588662253070837	0.528
18	56998781	A	G	18	59331549	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00307724636709336	0.13
18	56998781	A	T	18	59331549	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999976653932129	0.964
18	56998782	A	C	18	59331550	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.163988895881195	0.376
18	56998782	A	G	18	59331550	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0113927038593116	0.228
18	56998782	A	T	18	59331550	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.901109097355498	0.526
18	56998783	A	C	18	59331551	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999957296503403	0.972
18	56998783	A	G	18	59331551	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0104908694310829	0.16
18	56998783	A	T	18	59331551	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.298222538553424	0.514
18	57000315	A	C	18	59333083	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.95250748334787E-4	0.018
18	57000315	A	G	18	59333083	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.12650773005937E-5	0.0
18	57000315	A	T	18	59333083	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.13052979352669E-4	0.002
18	57000316	A	C	18	59333084	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.46690931440911E-5	0.006
18	57000316	A	G	18	59333084	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.46690931440911E-5	0.0
18	57000316	A	T	18	59333084	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.46690931440911E-5	0.0
18	57000317	A	C	18	59333085	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.43328047539108E-4	0.156
18	57000317	A	G	18	59333085	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.013743196055544	0.202
18	57000317	A	T	18	59333085	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00259085823274936	0.17
18	57000318	G	A	18	59333086	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.83793590503644E-5	0.002
18	57000318	G	C	18	59333086	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.18094862238599E-4	0.1
18	57000318	G	T	18	59333086	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.17230407189557E-5	0.008
18	57000319	T	A	18	59333087	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.966715891819994	0.64
18	57000319	T	C	18	59333087	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.994474872403382	0.78
18	57000319	T	G	18	59333087	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.345606302752171	0.55
18	57000320	T	A	18	59333088	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.978425653589284	0.426
18	57000320	T	C	18	59333088	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0575087553473818	0.374
18	57000320	T	G	18	59333088	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.985121751483315	0.446
18	57000321	A	C	18	59333089	y	y	splicing	LMAN1(NM_005570:exon12:c.1374+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1374+2T>G)	.	.	0.999978278263889	0.93
18	57000321	A	G	18	59333089	y	y	splicing	LMAN1(NM_005570:exon12:c.1374+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1374+2T>C)	.	.	0.98947773341259	0.626
18	57000321	A	T	18	59333089	y	y	splicing	LMAN1(NM_005570:exon12:c.1374+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1374+2T>A)	.	.	0.999988266609179	0.938
18	57000322	C	A	18	59333090	y	y	splicing	LMAN1(NM_005570:exon12:c.1374+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1374+1G>T)	.	.	0.999970661931818	0.946
18	57000322	C	G	18	59333090	y	y	splicing	LMAN1(NM_005570:exon12:c.1374+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1374+1G>C)	.	.	0.99994568797423	0.946
18	57000322	C	T	18	59333090	y	y	splicing	LMAN1(NM_005570:exon12:c.1374+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1374+1G>A)	.	.	0.999978952611685	0.946
18	57000323	C	A	18	59333091	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.G1374T:p.M458I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.G1374T:p.M458I;	0.999647163113223	0.944
18	57000323	C	G	18	59333091	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.G1374C:p.M458I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.G1374C:p.M458I;	0.999984302870338	0.824
18	57000323	C	T	18	59333091	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.G1374A:p.M458I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.G1374A:p.M458I;	0.999985743310706	0.992
18	57000324	A	C	18	59333092	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.T1373G:p.M458R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.T1373G:p.M458R;	4.71902889859455E-4	0.046
18	57000324	A	G	18	59333092	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.T1373C:p.M458T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.T1373C:p.M458T;	4.17766688708256E-5	0.006
18	57000324	A	T	18	59333092	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.T1373A:p.M458K;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.T1373A:p.M458K;	1.19271874800057E-4	0.208
18	57000325	T	A	18	59333093	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.A1372T:p.M458L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1372T:p.M458L;	0.00882907133074415	0.152
18	57000325	T	C	18	59333093	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.A1372G:p.M458V;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1372G:p.M458V;	5.6777994876808E-4	0.02
18	57000325	T	G	18	59333093	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.A1372C:p.M458L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1372C:p.M458L;	1.55852173200651E-4	0.016
18	57000475	T	A	18	59333243	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.A1222T:p.N408Y;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1222T:p.N408Y;	0.415371925899829	0.46
18	57000475	T	C	18	59333243	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.A1222G:p.N408D;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1222G:p.N408D;	0.0201644327523425	0.124
18	57000475	T	G	18	59333243	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.A1222C:p.N408H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1222C:p.N408H;	0.776741788678572	0.69
18	57000476	T	A	18	59333244	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.A1221T:p.K407N;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1221T:p.K407N;	0.0103980655900762	0.292
18	57000476	T	C	18	59333244	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon11:c.A1221G:p.K407K;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1221G:p.K407K;	8.84789929936185E-6	0.006
18	57000476	T	G	18	59333244	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon11:c.A1221C:p.K407N;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon11:c.A1221C:p.K407N;	0.0103426789954129	0.21
18	57000477	C	A	18	59333245	y	y	splicing	LMAN1(NM_005570:exon12:c.1221-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1221-1G>T)	.	.	0.999958812450268	0.946
18	57000477	C	G	18	59333245	y	y	splicing	LMAN1(NM_005570:exon12:c.1221-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1221-1G>C)	.	.	0.999945530492988	0.912
18	57000477	C	T	18	59333245	y	y	splicing	LMAN1(NM_005570:exon12:c.1221-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1221-1G>A)	.	.	0.999960200702261	0.948
18	57000478	T	A	18	59333246	y	y	splicing	LMAN1(NM_005570:exon12:c.1221-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1221-2A>T)	.	.	0.999963671976247	0.936
18	57000478	T	C	18	59333246	y	y	splicing	LMAN1(NM_005570:exon12:c.1221-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1221-2A>G)	.	.	0.999971317418422	0.914
18	57000478	T	G	18	59333246	y	y	splicing	LMAN1(NM_005570:exon12:c.1221-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon12:c.1221-2A>C)	.	.	0.999971317418422	0.914
18	57000479	G	A	18	59333247	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00131498689707302	0.028
18	57000479	G	C	18	59333247	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999877635533765	0.928
18	57000479	G	T	18	59333247	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.997266889289514	0.824
18	57000480	A	C	18	59333248	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.36544778885399E-5	0.048
18	57000480	A	G	18	59333248	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.3071833987956E-5	0.062
18	57000480	A	T	18	59333248	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.12409501134792E-4	0.038
18	57000481	A	C	18	59333249	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.994982713297825	0.502
18	57000481	A	G	18	59333249	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0611414746176955	0.252
18	57000481	A	T	18	59333249	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.974336122659227	0.51
18	57000482	A	C	18	59333250	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.96790366314955	0.694
18	57000482	A	G	18	59333250	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00444773917064599	0.144
18	57000482	A	T	18	59333250	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.96790366314955	0.7
18	57000483	C	A	18	59333251	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.75476138329354E-5	0.008
18	57000483	C	G	18	59333251	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.51868001462976E-5	0.018
18	57000483	C	T	18	59333251	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.58322198820601E-4	0.028
18	57000484	A	C	18	59333252	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.150240133650041	0.398
18	57000484	A	G	18	59333252	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.66409918063103E-4	0.046
18	57000484	A	T	18	59333252	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999915600405746	0.974
18	57000485	G	A	18	59333253	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.8731710511924E-5	0.042
18	57000485	G	C	18	59333253	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00152340188255012	0.132
18	57000485	G	T	18	59333253	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00238390094177007	0.092
18	57000486	A	C	18	59333254	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.135053183813336	0.24
18	57000486	A	G	18	59333254	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.20264614557875E-4	0.078
18	57000486	A	T	18	59333254	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.213895252136045	0.372
18	57000487	A	C	18	59333255	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.128791691147239	0.366
18	57000487	A	G	18	59333255	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0117424950596709	0.142
18	57000487	A	T	18	59333255	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.973260636081116	0.492
18	57000488	A	C	18	59333256	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.874552380421439	0.586
18	57000488	A	G	18	59333256	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00128715488698841	0.088
18	57000488	A	T	18	59333256	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.74200745125335	0.578
18	57005781	A	C	18	59338549	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.10710114931588E-4	0.018
18	57005781	A	G	18	59338549	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.60387029807596E-5	0.034
18	57005781	A	T	18	59338549	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.10710114931588E-4	0.018
18	57005782	T	A	18	59338550	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.61228075999277E-4	0.0
18	57005782	T	C	18	59338550	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.40940918270023E-4	0.002
18	57005782	T	G	18	59338550	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.54852398219204E-4	0.0
18	57005783	A	C	18	59338551	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.932599664455243	0.682
18	57005783	A	G	18	59338551	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.909255886571083	0.678
18	57005783	A	T	18	59338551	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.934699997729868	0.74
18	57005784	C	A	18	59338552	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999878339121683	0.906
18	57005784	C	G	18	59338552	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999412641864979	0.958
18	57005784	C	T	18	59338552	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999675213445111	0.82
18	57005785	T	A	18	59338553	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.995817572105773	0.836
18	57005785	T	C	18	59338553	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.994483071506069	0.932
18	57005785	T	G	18	59338553	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.997587284730047	0.858
18	57005786	T	A	18	59338554	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.998565533325118	0.948
18	57005786	T	C	18	59338554	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.749179107431947	0.514
18	57005786	T	G	18	59338554	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999679592497576	0.934
18	57005787	A	C	18	59338555	y	y	splicing	LMAN1(NM_005570:exon11:c.1220+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1220+2T>G)	.	.	0.999988247793601	0.928
18	57005787	A	G	18	59338555	y	y	splicing	LMAN1(NM_005570:exon11:c.1220+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1220+2T>C)	.	.	0.992783534660112	0.668
18	57005787	A	T	18	59338555	y	y	splicing	LMAN1(NM_005570:exon11:c.1220+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1220+2T>A)	.	.	0.999988247793601	0.928
18	57005788	C	A	18	59338556	y	y	splicing	LMAN1(NM_005570:exon11:c.1220+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1220+1G>T)	.	.	0.999985532734767	0.936
18	57005788	C	G	18	59338556	y	y	splicing	LMAN1(NM_005570:exon11:c.1220+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1220+1G>C)	.	.	0.999985532734767	0.936
18	57005788	C	T	18	59338556	y	y	splicing	LMAN1(NM_005570:exon11:c.1220+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1220+1G>A)	.	.	0.999985532734767	0.936
18	57005789	T	A	18	59338557	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.A1220T:p.K407I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.A1220T:p.K407I;	0.653990664346108	0.694
18	57005789	T	C	18	59338557	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.A1220G:p.K407R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.A1220G:p.K407R;	5.36716482697142E-4	0.034
18	57005789	T	G	18	59338557	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.A1220C:p.K407T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.A1220C:p.K407T;	0.310059508079218	0.75
18	57005790	T	A	18	59338558	y	y	exonic	LMAN1	stopgain SNV	LMAN1:NM_005570:exon10:c.A1219T:p.K407X;	exonic	ENSG00000074695	stopgain SNV	ENSG00000074695:ENST00000251047:exon10:c.A1219T:p.K407X;	0.996615313382042	0.896
18	57005790	T	C	18	59338558	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.A1219G:p.K407E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.A1219G:p.K407E;	0.993929074621269	0.858
18	57005790	T	G	18	59338558	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.A1219C:p.K407Q;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.A1219C:p.K407Q;	0.997197159606845	0.954
18	57005791	C	A	18	59338559	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.G1218T:p.M406I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.G1218T:p.M406I;	0.00416802936082254	0.24
18	57005791	C	G	18	59338559	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.G1218C:p.M406I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.G1218C:p.M406I;	2.27620293428561E-4	0.058
18	57005791	C	T	18	59338559	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.G1218A:p.M406I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.G1218A:p.M406I;	2.3407093402918E-4	0.072
18	57005858	A	C	18	59338626	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.T1151G:p.I384S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.T1151G:p.I384S;	7.09860112602501E-4	0.012
18	57005858	A	G	18	59338626	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.T1151C:p.I384T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.T1151C:p.I384T;	2.73166203770808E-4	0.012
18	57005858	A	T	18	59338626	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.T1151A:p.I384N;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.T1151A:p.I384N;	6.85105643517704E-4	0.014
18	57005859	T	A	18	59338627	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.A1150T:p.I384F;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.A1150T:p.I384F;	1.31255743962605E-4	0.01
18	57005859	T	C	18	59338627	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.A1150G:p.I384V;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.A1150G:p.I384V;	9.99586486770397E-6	0.002
18	57005859	T	G	18	59338627	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon10:c.A1150C:p.I384L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon10:c.A1150C:p.I384L;	7.80850511955978E-4	0.034
18	57005860	C	A	18	59338628	y	y	splicing	LMAN1(NM_005570:exon11:c.1150-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1150-1G>T)	.	.	0.99993314117114	0.948
18	57005860	C	G	18	59338628	y	y	splicing	LMAN1(NM_005570:exon11:c.1150-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1150-1G>C)	.	.	0.99993314117114	0.946
18	57005860	C	T	18	59338628	y	y	splicing	LMAN1(NM_005570:exon11:c.1150-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1150-1G>A)	.	.	0.99993314117114	0.948
18	57005861	T	A	18	59338629	y	y	splicing	LMAN1(NM_005570:exon11:c.1150-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1150-2A>T)	.	.	0.999896524849718	0.896
18	57005861	T	C	18	59338629	y	y	splicing	LMAN1(NM_005570:exon11:c.1150-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1150-2A>G)	.	.	0.999938221968836	0.892
18	57005861	T	G	18	59338629	y	y	splicing	LMAN1(NM_005570:exon11:c.1150-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon11:c.1150-2A>C)	.	.	0.999938221968836	0.892
18	57005862	G	A	18	59338630	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0138287466667371	0.18
18	57005862	G	C	18	59338630	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999125028966217	0.842
18	57005862	G	T	18	59338630	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.996612085969943	0.612
18	57005863	G	A	18	59338631	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.79837873226956E-5	0.0
18	57005863	G	C	18	59338631	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.85645030723833E-5	0.0
18	57005863	G	T	18	59338631	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.9621865677421E-6	0.0
18	57005864	A	C	18	59338632	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0075800123289567	0.268
18	57005864	A	G	18	59338632	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.2064558228533E-4	0.024
18	57005864	A	T	18	59338632	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00808211278612308	0.262
18	57005865	G	A	18	59338633	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.4274648222626E-5	0.006
18	57005865	G	C	18	59338633	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.61824361006703E-4	0.062
18	57005865	G	T	18	59338633	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.07218961892781E-4	0.066
18	57005866	G	A	18	59338634	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.41655469002275E-5	0.0
18	57005866	G	C	18	59338634	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.48629468318954E-4	0.064
18	57005866	G	T	18	59338634	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00152196882084229	0.05
18	57005867	A	C	18	59338635	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.53543165889975E-4	0.018
18	57005867	A	G	18	59338635	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.69984212406714E-5	0.0
18	57005867	A	T	18	59338635	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.40259318682245E-4	0.04
18	57005868	A	C	18	59338636	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00400832150648644	0.174
18	57005868	A	G	18	59338636	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.68068773500886E-4	0.022
18	57005868	A	T	18	59338636	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00443956437907805	0.152
18	57005869	G	A	18	59338637	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.49928645186824E-5	0.0
18	57005869	G	C	18	59338637	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.51662443388784E-4	0.008
18	57005869	G	T	18	59338637	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.54423066460304E-4	0.028
18	57005870	A	C	18	59338638	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00244433362750254	0.192
18	57005870	A	G	18	59338638	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.07204470223483E-4	0.062
18	57005870	A	T	18	59338638	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0143863283749614	0.252
18	57005871	A	C	18	59338639	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.32837577007045E-4	0.078
18	57005871	A	G	18	59338639	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.73070188050749E-5	0.0
18	57005871	A	T	18	59338639	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.62410697216397E-4	0.066
18	57005984	A	C	18	59338752	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.5989445127226E-5	0.026
18	57005984	A	G	18	59338752	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.5989445127226E-5	0.018
18	57005984	A	T	18	59338752	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.55410418771981E-5	0.016
18	57005985	A	C	18	59338753	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.05971502732592E-4	0.006
18	57005985	A	G	18	59338753	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.85629413592391E-5	0.0
18	57005985	A	T	18	59338753	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.2982608055022E-4	0.0
18	57005986	G	A	18	59338754	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.7614501615607E-4	0.078
18	57005986	G	C	18	59338754	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00527472287005519	0.106
18	57005986	G	T	18	59338754	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00223946408757245	0.162
18	57005987	C	A	18	59338755	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999969214920921	0.978
18	57005987	C	G	18	59338755	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.998832385083436	0.922
18	57005987	C	T	18	59338755	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999325542302057	0.942
18	57005988	C	A	18	59338756	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.03627202597743E-4	0.02
18	57005988	C	G	18	59338756	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.20442678138922E-5	0.024
18	57005988	C	T	18	59338756	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.36555395482778E-5	0.034
18	57005989	C	A	18	59338757	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0466806052847413	0.234
18	57005989	C	G	18	59338757	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0315583557149031	0.298
18	57005989	C	T	18	59338757	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.01772811700459E-4	0.066
18	57005990	A	C	18	59338758	y	y	splicing	LMAN1(NM_005570:exon10:c.1149+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.1149+2T>G)	.	.	0.999888448100583	0.862
18	57005990	A	G	18	59338758	y	y	splicing	LMAN1(NM_005570:exon10:c.1149+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.1149+2T>C)	.	.	0.999329347173568	0.864
18	57005990	A	T	18	59338758	y	y	splicing	LMAN1(NM_005570:exon10:c.1149+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.1149+2T>A)	.	.	0.999898966497921	0.882
18	57005991	C	A	18	59338759	y	y	splicing	LMAN1(NM_005570:exon10:c.1149+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.1149+1G>T)	.	.	0.999953303690318	0.948
18	57005991	C	G	18	59338759	y	y	splicing	LMAN1(NM_005570:exon10:c.1149+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.1149+1G>C)	.	.	0.999953303690318	0.948
18	57005991	C	T	18	59338759	y	y	splicing	LMAN1(NM_005570:exon10:c.1149+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.1149+1G>A)	.	.	0.999953303690318	0.944
18	57005992	C	A	18	59338760	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.G1149T:p.Q383H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.G1149T:p.Q383H;	0.999991729875503	0.964
18	57005992	C	G	18	59338760	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.G1149C:p.Q383H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.G1149C:p.Q383H;	0.999995378325025	0.996
18	57005992	C	T	18	59338760	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon9:c.G1149A:p.Q383Q;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.G1149A:p.Q383Q;	0.999984026760642	0.982
18	57005993	T	A	18	59338761	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.A1148T:p.Q383L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.A1148T:p.Q383L;	0.999059928919178	0.98
18	57005993	T	C	18	59338761	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.A1148G:p.Q383R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.A1148G:p.Q383R;	0.998776734892845	0.948
18	57005993	T	G	18	59338761	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.A1148C:p.Q383P;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.A1148C:p.Q383P;	0.976384281139638	0.758
18	57005994	G	A	18	59338762	y	y	exonic	LMAN1	stopgain SNV	LMAN1:NM_005570:exon9:c.C1147T:p.Q383X;	exonic	ENSG00000074695	stopgain SNV	ENSG00000074695:ENST00000251047:exon9:c.C1147T:p.Q383X;	0.999767084368379	0.98
18	57005994	G	C	18	59338762	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.C1147G:p.Q383E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.C1147G:p.Q383E;	0.416431713120182	0.344
18	57005994	G	T	18	59338762	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.C1147A:p.Q383K;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.C1147A:p.Q383K;	0.0196523203591521	0.224
18	57006184	C	A	18	59338952	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon9:c.G957T:p.A319A;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.G957T:p.A319A;	2.43925669948506E-5	0.002
18	57006184	C	G	18	59338952	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon9:c.G957C:p.A319A;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.G957C:p.A319A;	5.94679296093103E-5	0.004
18	57006184	C	T	18	59338952	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon9:c.G957A:p.A319A;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.G957A:p.A319A;	1.21351318894171E-4	0.004
18	57006185	G	A	18	59338953	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.C956T:p.A319V;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.C956T:p.A319V;	0.00125788493890354	0.258
18	57006185	G	C	18	59338953	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.C956G:p.A319G;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.C956G:p.A319G;	6.29196187056967E-4	0.078
18	57006185	G	T	18	59338953	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon9:c.C956A:p.A319E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon9:c.C956A:p.A319E;	3.77484719294901E-4	0.046
18	57006186	C	A	18	59338954	y	y	splicing	LMAN1(NM_005570:exon10:c.956-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.956-1G>T)	.	.	0.999990361384395	0.938
18	57006186	C	G	18	59338954	y	y	splicing	LMAN1(NM_005570:exon10:c.956-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.956-1G>C)	.	.	0.999990361384395	0.938
18	57006186	C	T	18	59338954	y	y	splicing	LMAN1(NM_005570:exon10:c.956-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.956-1G>A)	.	.	0.999990361384395	0.938
18	57006187	T	A	18	59338955	y	y	splicing	LMAN1(NM_005570:exon10:c.956-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.956-2A>T)	.	.	0.999988247793601	0.928
18	57006187	T	C	18	59338955	y	y	splicing	LMAN1(NM_005570:exon10:c.956-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.956-2A>G)	.	.	0.999988247793601	0.928
18	57006187	T	G	18	59338955	y	y	splicing	LMAN1(NM_005570:exon10:c.956-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon10:c.956-2A>C)	.	.	0.999988247793601	0.928
18	57006188	G	A	18	59338956	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00764056419995316	0.068
18	57006188	G	C	18	59338956	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999729222648035	0.976
18	57006188	G	T	18	59338956	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.138482778671579	0.492
18	57006189	A	C	18	59338957	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.54303636533344E-4	0.0
18	57006189	A	G	18	59338957	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.47762037906129E-4	0.0
18	57006189	A	T	18	59338957	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.99863781912744E-4	0.004
18	57006190	A	C	18	59338958	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.556173995163521	0.342
18	57006190	A	G	18	59338958	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0178024818882723	0.108
18	57006190	A	T	18	59338958	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0355856438093527	0.28
18	57006191	A	C	18	59338959	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00483743444726479	0.1
18	57006191	A	G	18	59338959	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.39060172249207E-4	0.004
18	57006191	A	T	18	59338959	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00989345231278097	0.152
18	57006192	A	C	18	59338960	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.67242255918232E-4	0.094
18	57006192	A	G	18	59338960	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.77213964467938E-5	0.004
18	57006192	A	T	18	59338960	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00112803112081524	0.1
18	57006193	G	A	18	59338961	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.18938628173825E-5	0.0
18	57006193	G	C	18	59338961	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.42813348634067E-4	0.07
18	57006193	G	T	18	59338961	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.93906192286613E-4	0.134
18	57006194	G	A	18	59338962	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0326962750398114	0.34
18	57006194	G	C	18	59338962	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0130325939151579	0.13
18	57006194	G	T	18	59338962	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0312223239153655	0.224
18	57006195	A	C	18	59338963	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.88231000837563E-4	0.168
18	57006195	A	G	18	59338963	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.03700488873091E-5	0.052
18	57006195	A	T	18	59338963	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0016565510266249	0.216
18	57006196	A	C	18	59338964	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.03836352204779E-4	0.188
18	57006196	A	G	18	59338964	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.92596756322538E-5	0.074
18	57006196	A	T	18	59338964	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00168174980002316	0.24
18	57006197	A	C	18	59338965	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999903348068208	0.908
18	57006197	A	G	18	59338965	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.81730468206252E-5	0.058
18	57006197	A	T	18	59338965	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.17255972727494E-4	0.182
18	57013143	C	A	18	59345911	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00946770393624514	0.048
18	57013143	C	G	18	59345911	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0037978371836278	0.024
18	57013143	C	T	18	59345911	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0117226925717501	0.08
18	57013144	A	C	18	59345912	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.17118246367294E-5	0.07
18	57013144	A	G	18	59345912	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.36760279380246E-5	0.058
18	57013144	A	T	18	59345912	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.87659251681638E-5	0.112
18	57013145	A	C	18	59345913	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.834380247857635	0.582
18	57013145	A	G	18	59345913	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.94756239112257	0.732
18	57013145	A	T	18	59345913	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.924331142015478	0.782
18	57013146	C	A	18	59345914	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999871664687983	0.89
18	57013146	C	G	18	59345914	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999939256551868	0.924
18	57013146	C	T	18	59345914	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999871664687983	0.882
18	57013147	T	A	18	59345915	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.998306688895476	0.848
18	57013147	T	C	18	59345915	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.988823520540553	0.858
18	57013147	T	G	18	59345915	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.984682898350767	0.648
18	57013148	C	A	18	59345916	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.796512700200937	0.668
18	57013148	C	G	18	59345916	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.903467665735575	0.702
18	57013148	C	T	18	59345916	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.1006676147826E-4	0.0
18	57013149	A	C	18	59345917	y	y	splicing	LMAN1(NM_005570:exon9:c.955+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.955+2T>G)	.	.	0.999988247793601	0.93
18	57013149	A	G	18	59345917	y	y	splicing	LMAN1(NM_005570:exon9:c.955+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.955+2T>C)	.	.	0.999929727175276	0.87
18	57013149	A	T	18	59345917	y	y	splicing	LMAN1(NM_005570:exon9:c.955+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.955+2T>A)	.	.	0.999988247793601	0.93
18	57013150	C	A	18	59345918	y	y	splicing	LMAN1(NM_005570:exon9:c.955+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.955+1G>T)	.	.	0.999990361384395	0.938
18	57013150	C	G	18	59345918	y	y	splicing	LMAN1(NM_005570:exon9:c.955+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.955+1G>C)	.	.	0.999990361384395	0.938
18	57013150	C	T	18	59345918	y	y	splicing	LMAN1(NM_005570:exon9:c.955+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.955+1G>A)	.	.	0.999990361384395	0.938
18	57013151	C	A	18	59345919	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.G955T:p.A319S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.G955T:p.A319S;	0.918013050541236	0.558
18	57013151	C	G	18	59345919	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.G955C:p.A319P;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.G955C:p.A319P;	0.988438059539753	0.52
18	57013151	C	T	18	59345919	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.G955A:p.A319T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.G955A:p.A319T;	0.958376794307115	0.596
18	57013152	A	C	18	59345920	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon8:c.T954G:p.P318P;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.T954G:p.P318P;	4.53709249642463E-4	0.028
18	57013152	A	G	18	59345920	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon8:c.T954C:p.P318P;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.T954C:p.P318P;	1.95424716846312E-4	0.022
18	57013152	A	T	18	59345920	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon8:c.T954A:p.P318P;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.T954A:p.P318P;	2.1631352494949E-4	0.182
18	57013153	G	A	18	59345921	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C953T:p.P318L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C953T:p.P318L;	0.996610826464573	0.74
18	57013153	G	C	18	59345921	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C953G:p.P318R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C953G:p.P318R;	0.953495488521458	0.656
18	57013153	G	T	18	59345921	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C953A:p.P318H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C953A:p.P318H;	0.909769579938132	0.824
18	57013282	G	A	18	59346050	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C824T:p.P275L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C824T:p.P275L;	0.977549792029059	.
18	57013282	G	C	18	59346050	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C824G:p.P275R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C824G:p.P275R;	0.982520412774863	.
18	57013282	G	T	18	59346050	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C824A:p.P275H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C824A:p.P275H;	0.991048753977646	.
18	57013283	G	A	18	59346051	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C823T:p.P275S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C823T:p.P275S;	0.99484733117761	.
18	57013283	G	C	18	59346051	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C823G:p.P275A;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C823G:p.P275A;	0.247379141279356	.
18	57013283	G	T	18	59346051	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon8:c.C823A:p.P275T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon8:c.C823A:p.P275T;	0.955336167354986	.
18	57013284	C	A	18	59346052	y	y	splicing	LMAN1(NM_005570:exon9:c.823-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.823-1G>T)	.	.	0.999993522334118	.
18	57013284	C	G	18	59346052	y	y	splicing	LMAN1(NM_005570:exon9:c.823-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.823-1G>C)	.	.	0.999993522334118	.
18	57013284	C	T	18	59346052	y	y	splicing	LMAN1(NM_005570:exon9:c.823-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.823-1G>A)	.	.	0.999993522334118	.
18	57013285	T	A	18	59346053	y	y	splicing	LMAN1(NM_005570:exon9:c.823-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.823-2A>T)	.	.	0.999992316931917	.
18	57013285	T	C	18	59346053	y	y	splicing	LMAN1(NM_005570:exon9:c.823-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.823-2A>G)	.	.	0.999992316931917	.
18	57013285	T	G	18	59346053	y	y	splicing	LMAN1(NM_005570:exon9:c.823-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon9:c.823-2A>C)	.	.	0.999992316931917	.
18	57013286	T	A	18	59346054	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.01141788917224E-4	.
18	57013286	T	C	18	59346054	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00229863375656642	.
18	57013286	T	G	18	59346054	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00373641411322379	.
18	57013287	T	A	18	59346055	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.59788891750936E-4	.
18	57013287	T	C	18	59346055	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.994421848609973	.
18	57013287	T	G	18	59346055	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.94979741140903E-5	.
18	57013288	T	A	18	59346056	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.27717726847924E-4	.
18	57013288	T	C	18	59346056	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.992673385024545	.
18	57013288	T	G	18	59346056	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.89325186972369E-4	.
18	57013289	T	A	18	59346057	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00129499273229959	.
18	57013289	T	C	18	59346057	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.996490718347062	.
18	57013289	T	G	18	59346057	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00247944092091913	.
18	57013290	T	A	18	59346058	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.48012514630248E-4	.
18	57013290	T	C	18	59346058	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.983725461842371	.
18	57013290	T	G	18	59346058	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.08982761556503E-4	.
18	57013291	T	A	18	59346059	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.40247414549531E-4	.
18	57013291	T	C	18	59346059	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.998184065010905	.
18	57013291	T	G	18	59346059	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.26962447073623E-4	.
18	57013292	T	A	18	59346060	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.56116350731577E-4	.
18	57013292	T	C	18	59346060	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.56569605949892E-4	.
18	57013292	T	G	18	59346060	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.16749512335626E-4	.
18	57013293	G	A	18	59346061	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.15369057979991E-4	.
18	57013293	G	C	18	59346061	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0073658304574443	.
18	57013293	G	T	18	59346061	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00570619559319208	.
18	57013294	G	A	18	59346062	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.73378943715464E-5	.
18	57013294	G	C	18	59346062	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.79557347711818E-4	.
18	57013294	G	T	18	59346062	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00689580313526231	.
18	57013295	A	C	18	59346063	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.125800840795287	.
18	57013295	A	G	18	59346063	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.77459198942494E-4	.
18	57013295	A	T	18	59346063	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.839679447601431	.
18	57014737	A	C	18	59347505	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.62666516321503E-4	0.018
18	57014737	A	G	18	59347505	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.42863973527116E-5	0.0
18	57014737	A	T	18	59347505	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.98268194239126E-4	0.0
18	57014738	A	C	18	59347506	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.96323034491673E-5	0.0
18	57014738	A	G	18	59347506	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.99769738680469E-5	0.002
18	57014738	A	T	18	59347506	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.99769738680469E-5	0.0
18	57014739	A	C	18	59347507	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00403382473888728	0.234
18	57014739	A	G	18	59347507	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.980700062994411	0.686
18	57014739	A	T	18	59347507	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.217890059269434	0.236
18	57014740	A	C	18	59347508	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.80882222497522E-5	0.01
18	57014740	A	G	18	59347508	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.05544750034613E-4	0.002
18	57014740	A	T	18	59347508	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.68103156837163E-5	0.016
18	57014741	T	A	18	59347509	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.753348145614728	0.554
18	57014741	T	C	18	59347509	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.977313899237317	0.782
18	57014741	T	G	18	59347509	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.562051525412066	0.464
18	57014742	T	A	18	59347510	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999934544473886	0.876
18	57014742	T	C	18	59347510	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.936626954015543	0.774
18	57014742	T	G	18	59347510	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999918094495739	0.904
18	57014743	A	C	18	59347511	y	y	splicing	LMAN1(NM_005570:exon8:c.822+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.822+2T>G)	.	.	0.999988247793601	0.924
18	57014743	A	G	18	59347511	y	y	splicing	LMAN1(NM_005570:exon8:c.822+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.822+2T>C)	.	.	0.991245725732999	0.63
18	57014743	A	T	18	59347511	y	y	splicing	LMAN1(NM_005570:exon8:c.822+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.822+2T>A)	.	.	0.999988247793601	0.926
18	57014744	C	A	18	59347512	y	y	splicing	LMAN1(NM_005570:exon8:c.822+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.822+1G>T)	.	.	0.999986675681007	0.932
18	57014744	C	G	18	59347512	y	y	splicing	LMAN1(NM_005570:exon8:c.822+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.822+1G>C)	.	.	0.999986675681007	0.932
18	57014744	C	T	18	59347512	y	y	splicing	LMAN1(NM_005570:exon8:c.822+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.822+1G>A)	.	.	0.999986675681007	0.932
18	57014745	C	A	18	59347513	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon7:c.G822T:p.P274P;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.G822T:p.P274P;	0.999928958367498	0.924
18	57014745	C	G	18	59347513	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon7:c.G822C:p.P274P;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.G822C:p.P274P;	0.999943984298984	0.896
18	57014745	C	T	18	59347513	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon7:c.G822A:p.P274P;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.G822A:p.P274P;	0.999954019297602	0.966
18	57014746	G	A	18	59347514	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.C821T:p.P274L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.C821T:p.P274L;	0.00192330880263683	0.026
18	57014746	G	C	18	59347514	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.C821G:p.P274R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.C821G:p.P274R;	3.99404629658001E-4	0.08
18	57014746	G	T	18	59347514	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.C821A:p.P274Q;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.C821A:p.P274Q;	3.11417380149323E-4	0.086
18	57014747	G	A	18	59347515	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.C820T:p.P274S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.C820T:p.P274S;	0.73721099768617	0.582
18	57014747	G	C	18	59347515	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.C820G:p.P274A;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.C820G:p.P274A;	0.00435963083327814	0.24
18	57014747	G	T	18	59347515	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.C820A:p.P274T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.C820A:p.P274T;	0.00602245536186139	0.178
18	57014802	A	C	18	59347570	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.T765G:p.D255E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.T765G:p.D255E;	0.0272054670984532	0.214
18	57014802	A	G	18	59347570	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon7:c.T765C:p.D255D;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.T765C:p.D255D;	0.00540457054306952	0.104
18	57014802	A	T	18	59347570	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.T765A:p.D255E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.T765A:p.D255E;	0.0320266166704965	0.202
18	57014803	T	A	18	59347571	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.A764T:p.D255V;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.A764T:p.D255V;	0.701041757534529	0.564
18	57014803	T	C	18	59347571	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.A764G:p.D255G;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.A764G:p.D255G;	0.599006781128157	0.662
18	57014803	T	G	18	59347571	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon7:c.A764C:p.D255A;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon7:c.A764C:p.D255A;	0.714639510925749	0.628
18	57014804	C	A	18	59347572	y	y	splicing	LMAN1(NM_005570:exon8:c.764-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.764-1G>T)	.	.	0.999985532734767	0.936
18	57014804	C	G	18	59347572	y	y	splicing	LMAN1(NM_005570:exon8:c.764-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.764-1G>C)	.	.	0.999985532734767	0.936
18	57014804	C	T	18	59347572	y	y	splicing	LMAN1(NM_005570:exon8:c.764-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.764-1G>A)	.	.	0.999985532734767	0.936
18	57014805	T	A	18	59347573	y	y	splicing	LMAN1(NM_005570:exon8:c.764-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.764-2A>T)	.	.	0.999988247793601	0.928
18	57014805	T	C	18	59347573	y	y	splicing	LMAN1(NM_005570:exon8:c.764-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.764-2A>G)	.	.	0.999988247793601	0.928
18	57014805	T	G	18	59347573	y	y	splicing	LMAN1(NM_005570:exon8:c.764-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon8:c.764-2A>C)	.	.	0.999988247793601	0.928
18	57014806	A	C	18	59347574	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.997618588714155	0.724
18	57014806	A	G	18	59347574	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.32613360412098E-4	0.022
18	57014806	A	T	18	59347574	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0139241617298022	0.242
18	57014807	C	A	18	59347575	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.97978205410496E-4	0.0
18	57014807	C	G	18	59347575	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.46834499369869E-4	0.002
18	57014807	C	T	18	59347575	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.40568768829684E-4	0.0
18	57014808	A	C	18	59347576	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.890609647074635	0.646
18	57014808	A	G	18	59347576	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.56757176985581E-4	0.044
18	57014808	A	T	18	59347576	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999151479670397	0.932
18	57014809	A	C	18	59347577	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.424200593080184	0.644
18	57014809	A	G	18	59347577	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.20911667144917E-4	0.034
18	57014809	A	T	18	59347577	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.372860302285933	0.688
18	57014810	A	C	18	59347578	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999514036172199	0.974
18	57014810	A	G	18	59347578	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.25123311861901E-4	0.07
18	57014810	A	T	18	59347578	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0786174951401307	0.188
18	57014811	T	A	18	59347579	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.53536785441474E-4	0.01
18	57014811	T	C	18	59347579	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999680114232445	0.986
18	57014811	T	G	18	59347579	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.80236087267347E-4	0.006
18	57014812	T	A	18	59347580	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0723542381019382	0.242
18	57014812	T	C	18	59347580	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.119623267435092	0.268
18	57014812	T	G	18	59347580	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0570472086800096	0.186
18	57014813	A	C	18	59347581	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0055606315865536	0.21
18	57014813	A	G	18	59347581	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00113751190282427	0.086
18	57014813	A	T	18	59347581	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00440190254658256	0.212
18	57014814	A	C	18	59347582	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.780542590008507	0.684
18	57014814	A	G	18	59347582	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00640860546469773	0.172
18	57014814	A	T	18	59347582	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.578775575996895	0.716
18	57014815	A	C	18	59347583	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.970042735205884	0.764
18	57014815	A	G	18	59347583	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0164663779998589	0.076
18	57014815	A	T	18	59347583	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.961753725869331	0.796
18	57016337	A	C	18	59349105	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.95926651422279E-5	0.0
18	57016337	A	G	18	59349105	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.39897773962902E-5	0.0
18	57016337	A	T	18	59349105	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.39897773962902E-5	0.0
18	57016338	G	A	18	59349106	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00312422484244185	0.1
18	57016338	G	C	18	59349106	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00118104812678528	0.09
18	57016338	G	T	18	59349106	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00154305245511267	0.094
18	57016339	A	C	18	59349107	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.68506626217139E-4	0.244
18	57016339	A	G	18	59349107	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0339929453972825	0.304
18	57016339	A	T	18	59349107	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00759330234288928	0.248
18	57016340	T	A	18	59349108	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.07569282331011E-4	0.006
18	57016340	T	C	18	59349108	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.39649182506171E-5	0.016
18	57016340	T	G	18	59349108	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.77400165677887E-4	0.026
18	57016341	T	A	18	59349109	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.423644787176771	0.326
18	57016341	T	C	18	59349109	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.216049648247608	0.352
18	57016341	T	G	18	59349109	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.179083499384174	0.308
18	57016342	T	A	18	59349110	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.997807399261439	0.81
18	57016342	T	C	18	59349110	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.239597147415078	0.716
18	57016342	T	G	18	59349110	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.997314828376319	0.858
18	57016343	A	C	18	59349111	y	y	splicing	LMAN1(NM_005570:exon7:c.763+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.763+2T>G)	.	.	0.999988247793601	0.928
18	57016343	A	G	18	59349111	y	y	splicing	LMAN1(NM_005570:exon7:c.763+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.763+2T>C)	.	.	0.99340600729494	0.65
18	57016343	A	T	18	59349111	y	y	splicing	LMAN1(NM_005570:exon7:c.763+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.763+2T>A)	.	.	0.999988247793601	0.928
18	57016344	C	A	18	59349112	y	y	splicing	LMAN1(NM_005570:exon7:c.763+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.763+1G>T)	.	.	0.999985532734767	0.936
18	57016344	C	G	18	59349112	y	y	splicing	LMAN1(NM_005570:exon7:c.763+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.763+1G>C)	.	.	0.999985532734767	0.936
18	57016344	C	T	18	59349112	y	y	splicing	LMAN1(NM_005570:exon7:c.763+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.763+1G>A)	.	.	0.999985532734767	0.936
18	57016345	C	A	18	59349113	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.G763T:p.D255Y;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.G763T:p.D255Y;	0.999971592128617	0.992
18	57016345	C	G	18	59349113	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.G763C:p.D255H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.G763C:p.D255H;	0.9999981677847	1.0
18	57016345	C	T	18	59349113	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.G763A:p.D255N;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.G763A:p.D255N;	0.999987462283818	1.0
18	57016346	T	A	18	59349114	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon6:c.A762T:p.A254A;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.A762T:p.A254A;	0.98181511958709	0.736
18	57016346	T	C	18	59349114	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon6:c.A762G:p.A254A;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.A762G:p.A254A;	0.846495353935845	0.598
18	57016346	T	G	18	59349114	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon6:c.A762C:p.A254A;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.A762C:p.A254A;	0.876121662126768	0.63
18	57016347	G	A	18	59349115	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.C761T:p.A254V;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.C761T:p.A254V;	0.999079855965098	0.942
18	57016347	G	C	18	59349115	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.C761G:p.A254G;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.C761G:p.A254G;	0.834870738477126	0.64
18	57016347	G	T	18	59349115	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.C761A:p.A254E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.C761A:p.A254E;	0.950434337910873	0.826
18	57016467	A	C	18	59349235	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.T641G:p.V214G;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.T641G:p.V214G;	0.594789174361873	0.552
18	57016467	A	G	18	59349235	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.T641C:p.V214A;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.T641C:p.V214A;	0.643327109215446	0.548
18	57016467	A	T	18	59349235	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.T641A:p.V214E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.T641A:p.V214E;	0.637059528503356	0.494
18	57016468	C	A	18	59349236	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.G640T:p.V214L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.G640T:p.V214L;	0.995802142155912	0.946
18	57016468	C	G	18	59349236	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.G640C:p.V214L;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.G640C:p.V214L;	0.987491122362578	0.906
18	57016468	C	T	18	59349236	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon6:c.G640A:p.V214I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon6:c.G640A:p.V214I;	0.454365508777333	0.548
18	57016469	C	A	18	59349237	y	y	splicing	LMAN1(NM_005570:exon7:c.640-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.640-1G>T)	.	.	0.999985532734767	0.936
18	57016469	C	G	18	59349237	y	y	splicing	LMAN1(NM_005570:exon7:c.640-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.640-1G>C)	.	.	0.999985532734767	0.936
18	57016469	C	T	18	59349237	y	y	splicing	LMAN1(NM_005570:exon7:c.640-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.640-1G>A)	.	.	0.999985532734767	0.936
18	57016470	T	A	18	59349238	y	y	splicing	LMAN1(NM_005570:exon7:c.640-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.640-2A>T)	.	.	0.999988247793601	0.928
18	57016470	T	C	18	59349238	y	y	splicing	LMAN1(NM_005570:exon7:c.640-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.640-2A>G)	.	.	0.999988247793601	0.928
18	57016470	T	G	18	59349238	y	y	splicing	LMAN1(NM_005570:exon7:c.640-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon7:c.640-2A>C)	.	.	0.999988247793601	0.928
18	57016471	A	C	18	59349239	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999170298569928	0.876
18	57016471	A	G	18	59349239	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00121390218632598	0.016
18	57016471	A	T	18	59349239	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.78363750469194	0.554
18	57016472	G	A	18	59349240	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.53518970797457E-5	0.004
18	57016472	G	C	18	59349240	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.46808065888264E-4	0.02
18	57016472	G	T	18	59349240	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.10811491335506E-4	0.014
18	57016473	A	C	18	59349241	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.316090433510773	0.464
18	57016473	A	G	18	59349241	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00177603115184357	0.032
18	57016473	A	T	18	59349241	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.487643380694669	0.572
18	57016474	A	C	18	59349242	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.172780080100371	0.414
18	57016474	A	G	18	59349242	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.38892161602811E-5	0.0
18	57016474	A	T	18	59349242	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0159783148795659	0.378
18	57016475	A	C	18	59349243	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.259189089879954	0.346
18	57016475	A	G	18	59349243	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.6874181993877E-4	0.006
18	57016475	A	T	18	59349243	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.730986389101056	0.546
18	57016476	G	A	18	59349244	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.10266199023797E-4	0.076
18	57016476	G	C	18	59349244	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00255439992235668	0.116
18	57016476	G	T	18	59349244	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0183245561266822	0.146
18	57016477	A	C	18	59349245	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.257475337984806	0.506
18	57016477	A	G	18	59349245	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.33942098525239E-4	0.022
18	57016477	A	T	18	59349245	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.253712274687247	0.574
18	57016478	C	A	18	59349246	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.19637078827419E-5	0.0
18	57016478	C	G	18	59349246	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.1123356133648E-5	0.0
18	57016478	C	T	18	59349246	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.20278739616861E-4	0.0
18	57016479	A	C	18	59349247	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999941791059945	0.964
18	57016479	A	G	18	59349247	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0981021416163953	0.358
18	57016479	A	T	18	59349247	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999951686824707	0.976
18	57016480	T	A	18	59349248	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.2306714012257E-5	0.008
18	57016480	T	C	18	59349248	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.81894235780328E-5	0.006
18	57016480	T	G	18	59349248	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.06730753181685E-5	0.0
18	57020426	T	A	18	59353194	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.93934715981021E-4	0.02
18	57020426	T	C	18	59353194	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.16590608194614E-5	0.008
18	57020426	T	G	18	59353194	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.43941080835694E-4	0.006
18	57020427	T	A	18	59353195	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.87083489444227E-4	0.0
18	57020427	T	C	18	59353195	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.6078378219293E-4	0.0
18	57020427	T	G	18	59353195	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.6078378219293E-4	0.0
18	57020428	A	C	18	59353196	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.984237768587404	0.766
18	57020428	A	G	18	59353196	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.968620894350551	0.742
18	57020428	A	T	18	59353196	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.939879281515422	0.57
18	57020429	C	A	18	59353197	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999976229545353	0.972
18	57020429	C	G	18	59353197	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999976229545353	0.992
18	57020429	C	T	18	59353197	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999981319657991	0.998
18	57020430	T	A	18	59353198	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.998654431507479	0.922
18	57020430	T	C	18	59353198	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.997654344755534	0.954
18	57020430	T	G	18	59353198	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.952513257650601	0.802
18	57020431	T	A	18	59353199	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999879390669936	0.976
18	57020431	T	C	18	59353199	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.219943298115527	0.356
18	57020431	T	G	18	59353199	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999899259878588	0.922
18	57020432	A	C	18	59353200	y	y	splicing	LMAN1(NM_005570:exon6:c.639+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.639+2T>G)	.	.	0.999988247793601	0.924
18	57020432	A	G	18	59353200	y	y	splicing	LMAN1(NM_005570:exon6:c.639+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.639+2T>C)	.	.	0.994731650058242	0.704
18	57020432	A	T	18	59353200	y	y	splicing	LMAN1(NM_005570:exon6:c.639+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.639+2T>A)	.	.	0.999988247793601	0.928
18	57020433	C	A	18	59353201	y	y	splicing	LMAN1(NM_005570:exon6:c.639+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.639+1G>T)	.	.	0.999990361384395	0.938
18	57020433	C	G	18	59353201	y	y	splicing	LMAN1(NM_005570:exon6:c.639+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.639+1G>C)	.	.	0.999990361384395	0.938
18	57020433	C	T	18	59353201	y	y	splicing	LMAN1(NM_005570:exon6:c.639+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.639+1G>A)	.	.	0.999990361384395	0.938
18	57020434	T	A	18	59353202	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon5:c.A639T:p.T213T;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.A639T:p.T213T;	2.14877807411985E-4	0.038
18	57020434	T	C	18	59353202	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon5:c.A639G:p.T213T;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.A639G:p.T213T;	7.76526891729026E-5	0.042
18	57020434	T	G	18	59353202	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon5:c.A639C:p.T213T;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.A639C:p.T213T;	3.80017278670847E-5	0.0
18	57020435	G	A	18	59353203	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.C638T:p.T213I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.C638T:p.T213I;	3.36398099512258E-4	0.042
18	57020435	G	C	18	59353203	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.C638G:p.T213R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.C638G:p.T213R;	3.6327500642713E-4	0.08
18	57020435	G	T	18	59353203	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.C638A:p.T213K;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.C638A:p.T213K;	2.81216054188834E-5	0.07
18	57020436	T	A	18	59353204	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.A637T:p.T213S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.A637T:p.T213S;	0.916836507743434	0.478
18	57020436	T	C	18	59353204	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.A637G:p.T213A;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.A637G:p.T213A;	0.50379548702597	0.426
18	57020436	T	G	18	59353204	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.A637C:p.T213P;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.A637C:p.T213P;	0.921629946015055	0.756
18	57020532	C	A	18	59353300	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.G541T:p.D181Y;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.G541T:p.D181Y;	0.983874855569142	0.878
18	57020532	C	G	18	59353300	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.G541C:p.D181H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.G541C:p.D181H;	0.981292727732041	0.892
18	57020532	C	T	18	59353300	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.G541A:p.D181N;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.G541A:p.D181N;	0.989282896559221	0.822
18	57020533	A	C	18	59353301	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.T540G:p.N180K;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.T540G:p.N180K;	5.9518740922625E-4	0.108
18	57020533	A	G	18	59353301	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon5:c.T540C:p.N180N;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.T540C:p.N180N;	5.8905357949761E-5	0.026
18	57020533	A	T	18	59353301	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon5:c.T540A:p.N180K;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon5:c.T540A:p.N180K;	1.05318409069273E-4	0.0
18	57020534	C	A	18	59353302	y	y	splicing	LMAN1(NM_005570:exon6:c.540-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.540-1G>T)	.	.	0.999990361384395	0.926
18	57020534	C	G	18	59353302	y	y	splicing	LMAN1(NM_005570:exon6:c.540-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.540-1G>C)	.	.	0.999990361384395	0.938
18	57020534	C	T	18	59353302	y	y	splicing	LMAN1(NM_005570:exon6:c.540-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.540-1G>A)	.	.	0.999990361384395	0.936
18	57020535	T	A	18	59353303	y	y	splicing	LMAN1(NM_005570:exon6:c.540-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.540-2A>T)	.	.	0.999978952611685	0.926
18	57020535	T	C	18	59353303	y	y	splicing	LMAN1(NM_005570:exon6:c.540-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.540-2A>G)	.	.	0.99994568797423	0.928
18	57020535	T	G	18	59353303	y	y	splicing	LMAN1(NM_005570:exon6:c.540-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon6:c.540-2A>C)	.	.	0.99994568797423	0.926
18	57020536	A	C	18	59353304	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.889584055669538	0.74
18	57020536	A	G	18	59353304	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.6196886359057E-5	0.0
18	57020536	A	T	18	59353304	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0237995499375705	0.43
18	57020537	T	A	18	59353305	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.93582942829137E-5	0.004
18	57020537	T	C	18	59353305	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.64365333399436E-5	0.044
18	57020537	T	G	18	59353305	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.46728615213284E-5	0.006
18	57020538	A	C	18	59353306	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.872305714028476	0.65
18	57020538	A	G	18	59353306	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.09260783651499E-4	0.096
18	57020538	A	T	18	59353306	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.845371800647519	0.6
18	57020539	G	A	18	59353307	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.75497580261508E-5	0.006
18	57020539	G	C	18	59353307	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999286807003847	0.96
18	57020539	G	T	18	59353307	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00173617445484935	0.124
18	57020540	T	A	18	59353308	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.64236774801816E-5	0.01
18	57020540	T	C	18	59353308	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.75832980649168E-5	0.0
18	57020540	T	G	18	59353308	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.6080212506841E-5	0.026
18	57020541	G	A	18	59353309	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.43694828097186E-5	0.002
18	57020541	G	C	18	59353309	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.998334810948547	0.904
18	57020541	G	T	18	59353309	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00106726706036203	0.086
18	57020542	T	A	18	59353310	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.74197544164644E-5	0.0
18	57020542	T	C	18	59353310	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.42444160915422E-5	0.0
18	57020542	T	G	18	59353310	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.71725497617871E-5	0.0
18	57020543	A	C	18	59353311	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0486403763384931	0.316
18	57020543	A	G	18	59353311	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.03137387045126E-4	0.018
18	57020543	A	T	18	59353311	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00508044167091577	0.22
18	57020544	A	C	18	59353312	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.274995050397398	0.488
18	57020544	A	G	18	59353312	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00151089300322237	0.194
18	57020544	A	T	18	59353312	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.574605843658604	0.55
18	57020545	G	A	18	59353313	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.23812930721018E-5	0.006
18	57020545	G	C	18	59353313	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.13763349751016E-4	0.118
18	57020545	G	T	18	59353313	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00862338560117279	0.16
18	57021743	A	C	18	59354511	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.3679303484631E-5	0.0
18	57021743	A	G	18	59354511	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.3679303484631E-5	0.0
18	57021743	A	T	18	59354511	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.39321167456118E-5	0.0
18	57021744	C	A	18	59354512	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.85320306264174E-5	0.002
18	57021744	C	G	18	59354512	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.78662238186337E-5	0.0
18	57021744	C	T	18	59354512	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.07866847243634E-5	0.002
18	57021745	A	C	18	59354513	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.18343013896524	0.452
18	57021745	A	G	18	59354513	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.556433946610206	0.49
18	57021745	A	T	18	59354513	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.744486291824529	0.51
18	57021746	C	A	18	59354514	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999753268474729	0.876
18	57021746	C	G	18	59354514	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.995158428883331	0.826
18	57021746	C	T	18	59354514	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.994763253762768	0.878
18	57021747	T	A	18	59354515	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.378477543884703	0.448
18	57021747	T	C	18	59354515	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.630741423152795	0.496
18	57021747	T	G	18	59354515	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.309433823628162	0.432
18	57021748	T	A	18	59354516	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.412390300275745	0.406
18	57021748	T	C	18	59354516	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00101381025475387	0.022
18	57021748	T	G	18	59354516	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.991848043578075	0.55
18	57021749	A	C	18	59354517	y	y	splicing	LMAN1(NM_005570:exon5:c.539+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.539+2T>G)	.	.	0.99994568797423	0.926
18	57021749	A	G	18	59354517	y	y	splicing	LMAN1(NM_005570:exon5:c.539+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.539+2T>C)	.	.	0.987955382770663	0.662
18	57021749	A	T	18	59354517	y	y	splicing	LMAN1(NM_005570:exon5:c.539+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.539+2T>A)	.	.	0.99994568797423	0.926
18	57021750	C	A	18	59354518	y	y	splicing	LMAN1(NM_005570:exon5:c.539+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.539+1G>T)	.	.	0.999986675681007	0.93
18	57021750	C	G	18	59354518	y	y	splicing	LMAN1(NM_005570:exon5:c.539+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.539+1G>C)	.	.	0.999986675681007	0.882
18	57021750	C	T	18	59354518	y	y	splicing	LMAN1(NM_005570:exon5:c.539+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.539+1G>A)	.	.	0.999986675681007	0.93
18	57021751	T	A	18	59354519	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A539T:p.N180I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A539T:p.N180I;	0.63077050258394	0.732
18	57021751	T	C	18	59354519	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A539G:p.N180S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A539G:p.N180S;	0.00670257428313431	0.166
18	57021751	T	G	18	59354519	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A539C:p.N180T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A539C:p.N180T;	0.0811664949625179	0.15
18	57021752	T	A	18	59354520	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A538T:p.N180Y;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A538T:p.N180Y;	0.989480199872009	0.83
18	57021752	T	C	18	59354520	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A538G:p.N180D;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A538G:p.N180D;	0.99550038469564	0.92
18	57021752	T	G	18	59354520	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A538C:p.N180H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A538C:p.N180H;	0.991428792605322	0.934
18	57021753	T	A	18	59354521	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A537T:p.Q179H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A537T:p.Q179H;	0.180552855138423	0.284
18	57021753	T	C	18	59354521	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon4:c.A537G:p.Q179Q;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A537G:p.Q179Q;	0.00617300093871812	0.06
18	57021753	T	G	18	59354521	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A537C:p.Q179H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A537C:p.Q179H;	0.00141030259182114	0.016
18	57021811	T	A	18	59354579	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A479T:p.K160I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A479T:p.K160I;	0.863108346804154	0.744
18	57021811	T	C	18	59354579	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A479G:p.K160R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A479G:p.K160R;	0.236122288559302	0.512
18	57021811	T	G	18	59354579	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A479C:p.K160T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A479C:p.K160T;	0.783965126119142	0.802
18	57021812	T	A	18	59354580	y	y	exonic	LMAN1	stopgain SNV	LMAN1:NM_005570:exon4:c.A478T:p.K160X;	exonic	ENSG00000074695	stopgain SNV	ENSG00000074695:ENST00000251047:exon4:c.A478T:p.K160X;	0.7958024765917	0.618
18	57021812	T	C	18	59354580	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A478G:p.K160E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A478G:p.K160E;	0.63822595885812	0.68
18	57021812	T	G	18	59354580	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon4:c.A478C:p.K160Q;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon4:c.A478C:p.K160Q;	0.505584655885371	0.55
18	57021813	C	A	18	59354581	y	y	splicing	LMAN1(NM_005570:exon5:c.478-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.478-1G>T)	.	.	0.999985532734767	0.938
18	57021813	C	G	18	59354581	y	y	splicing	LMAN1(NM_005570:exon5:c.478-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.478-1G>C)	.	.	0.999985532734767	0.938
18	57021813	C	T	18	59354581	y	y	splicing	LMAN1(NM_005570:exon5:c.478-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.478-1G>A)	.	.	0.999985532734767	0.938
18	57021814	T	A	18	59354582	y	y	splicing	LMAN1(NM_005570:exon5:c.478-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.478-2A>T)	.	.	0.999988247793601	0.928
18	57021814	T	C	18	59354582	y	y	splicing	LMAN1(NM_005570:exon5:c.478-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.478-2A>G)	.	.	0.999988247793601	0.928
18	57021814	T	G	18	59354582	y	y	splicing	LMAN1(NM_005570:exon5:c.478-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon5:c.478-2A>C)	.	.	0.999988247793601	0.928
18	57021815	A	C	18	59354583	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.996780804585252	0.702
18	57021815	A	G	18	59354583	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.85251275787125E-5	0.006
18	57021815	A	T	18	59354583	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0203032652874947	0.204
18	57021816	A	C	18	59354584	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.87128160560061E-4	0.018
18	57021816	A	G	18	59354584	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.34594343517461E-4	0.012
18	57021816	A	T	18	59354584	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00100618818376208	0.028
18	57021817	A	C	18	59354585	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.926195023971765	0.606
18	57021817	A	G	18	59354585	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0554898705488821	0.178
18	57021817	A	T	18	59354585	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.805461314920227	0.604
18	57021818	A	C	18	59354586	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.188633474308264	0.268
18	57021818	A	G	18	59354586	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00131611389026698	0.024
18	57021818	A	T	18	59354586	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.217228009682151	0.27
18	57021819	A	C	18	59354587	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00186727619874417	0.122
18	57021819	A	G	18	59354587	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.26944105125825E-4	0.018
18	57021819	A	T	18	59354587	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00537613587855953	0.126
18	57021820	A	C	18	59354588	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.47913202448029E-4	0.038
18	57021820	A	G	18	59354588	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.7286130065794E-5	0.008
18	57021820	A	T	18	59354588	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.10418853709024E-4	0.026
18	57021821	A	C	18	59354589	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0246119373881268	0.278
18	57021821	A	G	18	59354589	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00447019683733505	0.038
18	57021821	A	T	18	59354589	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0609157461653364	0.282
18	57021822	A	C	18	59354590	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.051479087882481	0.318
18	57021822	A	G	18	59354590	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00468262819937939	0.062
18	57021822	A	T	18	59354590	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.240299366698678	0.348
18	57021823	G	A	18	59354591	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.24322611269608E-5	0.046
18	57021823	G	C	18	59354591	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.00423877308589E-4	0.008
18	57021823	G	T	18	59354591	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.19782751894557E-4	0.038
18	57021824	G	A	18	59354592	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.49138313518241E-5	0.002
18	57021824	G	C	18	59354592	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.17047995475975E-4	0.026
18	57021824	G	T	18	59354592	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00108383846775791	0.026
18	57022537	A	C	18	59355305	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00140908411889492	0.138
18	57022537	A	G	18	59355305	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00140908411889492	0.12
18	57022537	A	T	18	59355305	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.71152887876688E-4	0.028
18	57022538	A	C	18	59355306	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.51515243053376E-4	0.0
18	57022538	A	G	18	59355306	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.54174931667549E-4	0.0
18	57022538	A	T	18	59355306	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.54174931667549E-4	0.004
18	57022539	A	C	18	59355307	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00122729666804584	0.292
18	57022539	A	G	18	59355307	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0254360773105456	0.328
18	57022539	A	T	18	59355307	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0138307291302969	0.28
18	57022540	T	A	18	59355308	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.44863167296452E-4	0.11
18	57022540	T	C	18	59355308	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.90077887877339E-5	0.042
18	57022540	T	G	18	59355308	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.39325860485005E-4	0.026
18	57022541	A	C	18	59355309	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	7.21643844325553E-4	0.018
18	57022541	A	G	18	59355309	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0291424050491309	0.116
18	57022541	A	T	18	59355309	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.20940494529645E-4	0.04
18	57022542	T	A	18	59355310	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999864459456821	0.98
18	57022542	T	C	18	59355310	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999668245771024	0.934
18	57022542	T	G	18	59355310	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999896607247644	0.906
18	57022543	A	C	18	59355311	y	y	splicing	LMAN1(NM_005570:exon4:c.477+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.477+2T>G)	.	.	0.999988247793601	0.93
18	57022543	A	G	18	59355311	y	y	splicing	LMAN1(NM_005570:exon4:c.477+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.477+2T>C)	.	.	0.99340600729494	0.678
18	57022543	A	T	18	59355311	y	y	splicing	LMAN1(NM_005570:exon4:c.477+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.477+2T>A)	.	.	0.999988247793601	0.93
18	57022544	C	A	18	59355312	y	y	splicing	LMAN1(NM_005570:exon4:c.477+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.477+1G>T)	.	.	0.999989263107695	0.936
18	57022544	C	G	18	59355312	y	y	splicing	LMAN1(NM_005570:exon4:c.477+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.477+1G>C)	.	.	0.999989263107695	0.936
18	57022544	C	T	18	59355312	y	y	splicing	LMAN1(NM_005570:exon4:c.477+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.477+1G>A)	.	.	0.999989263107695	0.936
18	57022545	C	A	18	59355313	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.G477T:p.K159N;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.G477T:p.K159N;	0.999992895158708	1.0
18	57022545	C	G	18	59355313	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.G477C:p.K159N;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.G477C:p.K159N;	0.999997975790096	0.998
18	57022545	C	T	18	59355313	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon3:c.G477A:p.K159K;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.G477A:p.K159K;	0.999983315718552	1.0
18	57022546	T	A	18	59355314	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.A476T:p.K159M;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.A476T:p.K159M;	0.999939474773405	0.998
18	57022546	T	C	18	59355314	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.A476G:p.K159R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.A476G:p.K159R;	0.999950634312328	1.0
18	57022546	T	G	18	59355314	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.A476C:p.K159T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.A476C:p.K159T;	0.999860331365218	1.0
18	57022547	T	A	18	59355315	y	y	exonic	LMAN1	stopgain SNV	LMAN1:NM_005570:exon3:c.A475T:p.K159X;	exonic	ENSG00000074695	stopgain SNV	ENSG00000074695:ENST00000251047:exon3:c.A475T:p.K159X;	0.998588698475557	0.852
18	57022547	T	C	18	59355315	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.A475G:p.K159E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.A475G:p.K159E;	0.587771447034656	0.41
18	57022547	T	G	18	59355315	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.A475C:p.K159Q;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.A475C:p.K159Q;	0.118163959736531	0.446
18	57022651	G	A	18	59355419	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.C371T:p.A124V;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.C371T:p.A124V;	0.976443679439385	0.794
18	57022651	G	C	18	59355419	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.C371G:p.A124G;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.C371G:p.A124G;	0.961643929183226	0.794
18	57022651	G	T	18	59355419	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.C371A:p.A124E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.C371A:p.A124E;	0.990596906097247	0.846
18	57022652	C	A	18	59355420	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.G370T:p.A124S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.G370T:p.A124S;	0.999878253085029	0.994
18	57022652	C	G	18	59355420	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.G370C:p.A124P;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.G370C:p.A124P;	0.999769701922942	0.986
18	57022652	C	T	18	59355420	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon3:c.G370A:p.A124T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon3:c.G370A:p.A124T;	0.999639623683603	0.906
18	57022653	C	A	18	59355421	y	y	splicing	LMAN1(NM_005570:exon4:c.370-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.370-1G>T)	.	.	0.999985532734767	0.95
18	57022653	C	G	18	59355421	y	y	splicing	LMAN1(NM_005570:exon4:c.370-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.370-1G>C)	.	.	0.999985532734767	0.95
18	57022653	C	T	18	59355421	y	y	splicing	LMAN1(NM_005570:exon4:c.370-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.370-1G>A)	.	.	0.999985532734767	0.95
18	57022654	T	A	18	59355422	y	y	splicing	LMAN1(NM_005570:exon4:c.370-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.370-2A>T)	.	.	0.999988247793601	0.94
18	57022654	T	C	18	59355422	y	y	splicing	LMAN1(NM_005570:exon4:c.370-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.370-2A>G)	.	.	0.999988247793601	0.948
18	57022654	T	G	18	59355422	y	y	splicing	LMAN1(NM_005570:exon4:c.370-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon4:c.370-2A>C)	.	.	0.999988247793601	0.948
18	57022655	G	A	18	59355423	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0143884332573567	0.276
18	57022655	G	C	18	59355423	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999825038287419	0.924
18	57022655	G	T	18	59355423	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.880708950109714	0.586
18	57022656	A	C	18	59355424	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.47348756796826E-5	0.0
18	57022656	A	G	18	59355424	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.37692992248644E-5	0.002
18	57022656	A	T	18	59355424	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.19921624993831E-5	0.0
18	57022657	A	C	18	59355425	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.800109955652163	0.442
18	57022657	A	G	18	59355425	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.99384802757416E-4	0.128
18	57022657	A	T	18	59355425	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.222097901857639	0.328
18	57022658	A	C	18	59355426	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.769624305417027	0.472
18	57022658	A	G	18	59355426	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.14738583194833E-4	0.034
18	57022658	A	T	18	59355426	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.443223843345494	0.412
18	57022659	A	C	18	59355427	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999858564309126	0.994
18	57022659	A	G	18	59355427	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.15593457381577E-5	0.072
18	57022659	A	T	18	59355427	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.015397263694447	0.166
18	57022660	T	A	18	59355428	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.230898211058E-5	0.0
18	57022660	T	C	18	59355428	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.96763720215993E-5	0.002
18	57022660	T	G	18	59355428	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.230898211058E-5	0.0
18	57022661	A	C	18	59355429	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999941165148901	0.964
18	57022661	A	G	18	59355429	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.843303237282E-4	0.088
18	57022661	A	T	18	59355429	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.154805165476683	0.48
18	57022662	T	A	18	59355430	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.91709968534922E-5	0.05
18	57022662	T	C	18	59355430	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.9124086271514E-5	0.082
18	57022662	T	G	18	59355430	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.91709968534922E-5	0.044
18	57022663	G	A	18	59355431	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.67944982512943E-5	0.0
18	57022663	G	C	18	59355431	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.981797778108749	0.59
18	57022663	G	T	18	59355431	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.14509011419897E-4	0.002
18	57022664	T	A	18	59355432	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.9805855037675E-5	0.046
18	57022664	T	C	18	59355432	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.37103620192488E-5	0.092
18	57022664	T	G	18	59355432	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.9805855037675E-5	0.04
18	57022728	G	A	18	59355496	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.65550243676511E-4	0.002
18	57022728	G	C	18	59355496	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.24521750618346E-4	0.012
18	57022728	G	T	18	59355496	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.21838358730229E-4	0.022
18	57022729	A	C	18	59355497	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.86843105019833E-4	0.006
18	57022729	A	G	18	59355497	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.21477641663012E-4	0.034
18	57022729	A	T	18	59355497	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.67900737823319E-4	0.034
18	57022730	T	A	18	59355498	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.10752742004957E-4	0.032
18	57022730	T	C	18	59355498	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.27635405453177E-4	0.042
18	57022730	T	G	18	59355498	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.5550166922386E-4	0.128
18	57022731	C	A	18	59355499	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999544492815505	0.902
18	57022731	C	G	18	59355499	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999756767982252	0.942
18	57022731	C	T	18	59355499	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999681427186235	0.928
18	57022732	A	C	18	59355500	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00312314352752794	0.106
18	57022732	A	G	18	59355500	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00166875177275645	0.342
18	57022732	A	T	18	59355500	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.13448729869204E-4	0.05
18	57022733	T	A	18	59355501	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999920051372532	0.948
18	57022733	T	C	18	59355501	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.998481475296661	0.82
18	57022733	T	G	18	59355501	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999921705524167	0.922
18	57022734	A	C	18	59355502	y	y	splicing	LMAN1(NM_005570:exon3:c.369+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.369+2T>G)	.	.	0.999908539125455	0.908
18	57022734	A	G	18	59355502	y	y	splicing	LMAN1(NM_005570:exon3:c.369+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.369+2T>C)	.	.	0.999304422980164	0.842
18	57022734	A	T	18	59355502	y	y	splicing	LMAN1(NM_005570:exon3:c.369+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.369+2T>A)	.	.	0.999908539125455	0.908
18	57022735	C	A	18	59355503	y	y	splicing	LMAN1(NM_005570:exon3:c.369+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.369+1G>T)	.	.	0.999964469209436	0.894
18	57022735	C	G	18	59355503	y	y	splicing	LMAN1(NM_005570:exon3:c.369+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.369+1G>C)	.	.	0.999964469209436	0.894
18	57022735	C	T	18	59355503	y	y	splicing	LMAN1(NM_005570:exon3:c.369+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.369+1G>A)	.	.	0.999964469209436	0.894
18	57022736	T	A	18	59355504	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon2:c.A369T:p.L123L;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.A369T:p.L123L;	0.047470363517846	0.202
18	57022736	T	C	18	59355504	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon2:c.A369G:p.L123L;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.A369G:p.L123L;	7.3180873199828E-5	0.006
18	57022736	T	G	18	59355504	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon2:c.A369C:p.L123L;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.A369C:p.L123L;	3.35379870110393E-4	0.218
18	57022737	A	C	18	59355505	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.T368G:p.L123R;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.T368G:p.L123R;	0.968755671985926	0.912
18	57022737	A	G	18	59355505	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.T368C:p.L123P;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.T368C:p.L123P;	0.955140158908944	0.898
18	57022737	A	T	18	59355505	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.T368A:p.L123Q;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.T368A:p.L123Q;	0.692632075935131	0.654
18	57022738	G	A	18	59355506	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon2:c.C367T:p.L123L;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.C367T:p.L123L;	0.949500810520759	0.756
18	57022738	G	C	18	59355506	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.C367G:p.L123V;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.C367G:p.L123V;	0.409246717067886	0.476
18	57022738	G	T	18	59355506	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.C367A:p.L123I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.C367A:p.L123I;	0.0667529498339147	0.332
18	57022889	A	C	18	59355657	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.T216G:p.N72K;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.T216G:p.N72K;	0.392093369925848	0.37
18	57022889	A	G	18	59355657	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon2:c.T216C:p.N72N;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.T216C:p.N72N;	0.250922789909737	0.258
18	57022889	A	T	18	59355657	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.T216A:p.N72K;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.T216A:p.N72K;	0.734766379760031	0.378
18	57022890	T	A	18	59355658	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.A215T:p.N72I;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.A215T:p.N72I;	0.456889630931946	0.434
18	57022890	T	C	18	59355658	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.A215G:p.N72S;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.A215G:p.N72S;	0.00244256132478693	0.018
18	57022890	T	G	18	59355658	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon2:c.A215C:p.N72T;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon2:c.A215C:p.N72T;	0.12602225434758	0.248
18	57022891	C	A	18	59355659	y	y	splicing	LMAN1(NM_005570:exon3:c.215-1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.215-1G>T)	.	.	0.999985532734767	0.946
18	57022891	C	G	18	59355659	y	y	splicing	LMAN1(NM_005570:exon3:c.215-1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.215-1G>C)	.	.	0.999985532734767	0.946
18	57022891	C	T	18	59355659	y	y	splicing	LMAN1(NM_005570:exon3:c.215-1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.215-1G>A)	.	.	0.999985532734767	0.946
18	57022892	T	A	18	59355660	y	y	splicing	LMAN1(NM_005570:exon3:c.215-2A>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.215-2A>T)	.	.	0.999988247793601	0.946
18	57022892	T	C	18	59355660	y	y	splicing	LMAN1(NM_005570:exon3:c.215-2A>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.215-2A>G)	.	.	0.999988247793601	0.946
18	57022892	T	G	18	59355660	y	y	splicing	LMAN1(NM_005570:exon3:c.215-2A>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon3:c.215-2A>C)	.	.	0.999988247793601	0.946
18	57022893	A	C	18	59355661	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.940872897218062	0.702
18	57022893	A	G	18	59355661	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.71602450243624E-4	0.008
18	57022893	A	T	18	59355661	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.361568234602564	0.438
18	57022894	G	A	18	59355662	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.98041196885061E-5	0.008
18	57022894	G	C	18	59355662	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	8.05316528039796E-5	0.0
18	57022894	G	T	18	59355662	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.19123862945281E-4	0.01
18	57022895	A	C	18	59355663	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.424516793925311	0.516
18	57022895	A	G	18	59355663	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.69427256156578E-4	0.04
18	57022895	A	T	18	59355663	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.80158647796892	0.516
18	57022896	A	C	18	59355664	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0262635952190144	0.336
18	57022896	A	G	18	59355664	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00103320090672624	0.094
18	57022896	A	T	18	59355664	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.0215017202567129	0.308
18	57022897	C	A	18	59355665	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.3910858111697E-5	0.002
18	57022897	C	G	18	59355665	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.07116063954882E-5	0.0
18	57022897	C	T	18	59355665	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.53836669941723E-5	0.0
18	57022898	A	C	18	59355666	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.147347714942783	0.49
18	57022898	A	G	18	59355666	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.62632053654447E-4	0.038
18	57022898	A	T	18	59355666	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999549892721525	0.966
18	57022899	G	A	18	59355667	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.53336202090296E-5	0.0
18	57022899	G	C	18	59355667	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	6.86382846219655E-4	0.05
18	57022899	G	T	18	59355667	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00718193201760177	0.102
18	57022900	A	C	18	59355668	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.147435705527087	0.508
18	57022900	A	G	18	59355668	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00285282563944312	0.12
18	57022900	A	T	18	59355668	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.185184086153072	0.556
18	57022901	A	C	18	59355669	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.986389591847731	0.84
18	57022901	A	G	18	59355669	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.426516657676821	0.336
18	57022901	A	T	18	59355669	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.982626860261881	0.868
18	57022902	A	C	18	59355670	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999703464417658	0.926
18	57022902	A	G	18	59355670	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00141443535085034	0.09
18	57022902	A	T	18	59355670	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.114471108405581	0.396
18	57026255	C	A	18	59359023	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	4.98652572036773E-5	0.002
18	57026255	C	G	18	59359023	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.15371209119764E-5	0.004
18	57026255	C	T	18	59359023	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	3.15371209119764E-5	0.0
18	57026256	G	A	18	59359024	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	5.37252209345656E-4	0.036
18	57026256	G	C	18	59359024	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.70147646660254E-4	0.028
18	57026256	G	T	18	59359024	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	1.1206913662572E-4	0.002
18	57026257	G	A	18	59359025	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	9.56157672838958E-4	0.024
18	57026257	G	C	18	59359025	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	2.28715937563416E-4	0.166
18	57026257	G	T	18	59359025	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.00215991789046063	0.178
18	57026258	C	A	18	59359026	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999980829823315	0.964
18	57026258	C	G	18	59359026	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999950531904309	1.0
18	57026258	C	T	18	59359026	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.99998522085533	1.0
18	57026259	T	A	18	59359027	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999778358981523	0.918
18	57026259	T	C	18	59359027	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999743878986891	0.962
18	57026259	T	G	18	59359027	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999920488164346	0.92
18	57026260	T	A	18	59359028	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999957943388916	0.972
18	57026260	T	C	18	59359028	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.984636825154059	0.736
18	57026260	T	G	18	59359028	y	y	intronic	LMAN1	.	.	intronic	ENSG00000074695	.	.	0.999951327256207	0.95
18	57026261	A	C	18	59359029	y	y	splicing	LMAN1(NM_005570:exon2:c.214+2T>G)	.	.	splicing	ENSG00000074695(ENST00000251047:exon2:c.214+2T>G)	.	.	0.999988893522493	0.938
18	57026261	A	G	18	59359029	y	y	splicing	LMAN1(NM_005570:exon2:c.214+2T>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon2:c.214+2T>C)	.	.	0.999891240960682	0.886
18	57026261	A	T	18	59359029	y	y	splicing	LMAN1(NM_005570:exon2:c.214+2T>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon2:c.214+2T>A)	.	.	0.999988893522493	0.938
18	57026262	C	A	18	59359030	y	y	splicing	LMAN1(NM_005570:exon2:c.214+1G>T)	.	.	splicing	ENSG00000074695(ENST00000251047:exon2:c.214+1G>T)	.	.	0.999984967332678	0.948
18	57026262	C	G	18	59359030	y	y	splicing	LMAN1(NM_005570:exon2:c.214+1G>C)	.	.	splicing	ENSG00000074695(ENST00000251047:exon2:c.214+1G>C)	.	.	0.999984967332678	0.948
18	57026262	C	T	18	59359030	y	y	splicing	LMAN1(NM_005570:exon2:c.214+1G>A)	.	.	splicing	ENSG00000074695(ENST00000251047:exon2:c.214+1G>A)	.	.	0.999984967332678	0.948
18	57026263	T	A	18	59359031	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon1:c.A214T:p.N72Y;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.A214T:p.N72Y;	0.385637379576477	0.53
18	57026263	T	C	18	59359031	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon1:c.A214G:p.N72D;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.A214G:p.N72D;	0.185416789097855	0.296
18	57026263	T	G	18	59359031	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon1:c.A214C:p.N72H;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.A214C:p.N72H;	0.198330304595101	0.67
18	57026264	C	A	18	59359032	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon1:c.G213T:p.G71G;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.G213T:p.G71G;	0.353293800821732	0.47
18	57026264	C	G	18	59359032	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon1:c.G213C:p.G71G;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.G213C:p.G71G;	0.366405771484498	0.458
18	57026264	C	T	18	59359032	y	y	exonic	LMAN1	synonymous SNV	LMAN1:NM_005570:exon1:c.G213A:p.G71G;	exonic	ENSG00000074695	synonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.G213A:p.G71G;	0.191589253887285	0.318
18	57026265	C	A	18	59359033	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon1:c.G212T:p.G71V;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.G212T:p.G71V;	0.901460955309239	0.698
18	57026265	C	G	18	59359033	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon1:c.G212C:p.G71A;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.G212C:p.G71A;	0.774459682663784	0.662
18	57026265	C	T	18	59359033	y	y	exonic	LMAN1	nonsynonymous SNV	LMAN1:NM_005570:exon1:c.G212A:p.G71E;	exonic	ENSG00000074695	nonsynonymous SNV	ENSG00000074695:ENST00000251047:exon1:c.G212A:p.G71E;	0.711562240772785	0.732
18	57103372	C	A	18	59436140	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon11:c.G989T:p.G330V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon8:c.G176T:p.G59V;ENSG00000183287:ENST00000439986:exon11:c.G989T:p.G330V;	0.980738302444458	0.846
18	57103372	C	G	18	59436140	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon11:c.G989C:p.G330A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon8:c.G176C:p.G59A;ENSG00000183287:ENST00000439986:exon11:c.G989C:p.G330A;	0.984463037625885	0.798
18	57103372	C	T	18	59436140	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon11:c.G989A:p.G330E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon8:c.G176A:p.G59E;ENSG00000183287:ENST00000439986:exon11:c.G989A:p.G330E;	0.98618231636881	0.744
18	57103373	C	A	18	59436141	y	y	exonic	CCBE1	stopgain SNV	CCBE1:NM_133459:exon11:c.G988T:p.G330X;	exonic	ENSG00000183287	stopgain SNV	ENSG00000183287:ENST00000398179:exon8:c.G175T:p.G59X;ENSG00000183287:ENST00000439986:exon11:c.G988T:p.G330X;	0.998432007434496	0.97
18	57103373	C	G	18	59436141	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon11:c.G988C:p.G330R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon8:c.G175C:p.G59R;ENSG00000183287:ENST00000439986:exon11:c.G988C:p.G330R;	0.988953799620719	0.896
18	57103373	C	T	18	59436141	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon11:c.G988A:p.G330R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon8:c.G175A:p.G59R;ENSG00000183287:ENST00000439986:exon11:c.G988A:p.G330R;	0.857921879864438	0.73
18	57103374	C	A	18	59436142	y	y	splicing	CCBE1(NM_133459:exon12:c.988-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon12:c.988-1G>T;ENST00000398179:exon9:c.175-1G>T)	.	.	0.999993444959628	0.936
18	57103374	C	G	18	59436142	y	y	splicing	CCBE1(NM_133459:exon12:c.988-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon12:c.988-1G>C;ENST00000398179:exon9:c.175-1G>C)	.	.	0.999993444959628	0.936
18	57103374	C	T	18	59436142	y	y	splicing	CCBE1(NM_133459:exon12:c.988-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon12:c.988-1G>A;ENST00000398179:exon9:c.175-1G>A)	.	.	0.999993444959628	0.936
18	57103375	T	A	18	59436143	y	y	splicing	CCBE1(NM_133459:exon12:c.988-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon12:c.988-2A>T;ENST00000398179:exon9:c.175-2A>T)	.	.	0.999992007541056	0.938
18	57103375	T	C	18	59436143	y	y	splicing	CCBE1(NM_133459:exon12:c.988-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon12:c.988-2A>G;ENST00000398179:exon9:c.175-2A>G)	.	.	0.999992007541056	0.938
18	57103375	T	G	18	59436143	y	y	splicing	CCBE1(NM_133459:exon12:c.988-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon12:c.988-2A>C;ENST00000398179:exon9:c.175-2A>C)	.	.	0.999992007541056	0.938
18	57103376	G	A	18	59436144	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.100408119060027	0.372
18	57103376	G	C	18	59436144	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999981396714114	0.972
18	57103376	G	T	18	59436144	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999828485144535	0.866
18	57103377	T	A	18	59436145	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.76344286013235E-5	0.0
18	57103377	T	C	18	59436145	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.90390667353218E-5	0.0
18	57103377	T	G	18	59436145	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.63876089652923E-5	0.02
18	57103378	G	A	18	59436146	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.64754037700791E-5	0.044
18	57103378	G	C	18	59436146	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999957094774861	0.986
18	57103378	G	T	18	59436146	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.28661878897146E-4	0.164
18	57103379	T	A	18	59436147	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.6885769875388E-5	0.01
18	57103379	T	C	18	59436147	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.4798886914459E-5	0.042
18	57103379	T	G	18	59436147	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.00779819724214E-4	0.01
18	57103380	A	C	18	59436148	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.967616232575836	0.736
18	57103380	A	G	18	59436148	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00295815367731341	0.072
18	57103380	A	T	18	59436148	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.973800346583455	0.866
18	57103381	C	A	18	59436149	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.27700624908229E-4	0.046
18	57103381	C	G	18	59436149	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.58169448840328E-4	0.026
18	57103381	C	T	18	59436149	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.45646280462819E-4	0.096
18	57103382	A	C	18	59436150	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999932443582345	0.874
18	57103382	A	G	18	59436150	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.54062550079257E-4	0.092
18	57103382	A	T	18	59436150	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999907404946518	0.872
18	57103383	T	A	18	59436151	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.37272630880164E-5	0.0
18	57103383	T	C	18	59436151	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.34541501426892E-5	0.0
18	57103383	T	G	18	59436151	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.27219349862041E-5	0.0
18	57103384	G	A	18	59436152	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	7.949195417E-6	0.006
18	57103384	G	C	18	59436152	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.63123427486321E-4	0.04
18	57103384	G	T	18	59436152	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.63341233161079E-4	0.072
18	57103385	G	A	18	59436153	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.51243221072955E-4	0.032
18	57103385	G	C	18	59436153	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00403939460722733	0.108
18	57103385	G	T	18	59436153	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00650191101178352	0.09
18	57105335	C	A	18	59438103	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.30252878047435E-4	0.008
18	57105335	C	G	18	59438103	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.30252878047435E-4	0.01
18	57105335	C	T	18	59438103	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.20393233100213E-4	0.028
18	57105336	T	A	18	59438104	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.60341555547201E-5	0.0
18	57105336	T	C	18	59438104	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.60341555547201E-5	0.0
18	57105336	T	G	18	59438104	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.29000698370475E-4	0.002
18	57105337	A	C	18	59438105	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.966658805668624	0.682
18	57105337	A	G	18	59438105	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.963520044374185	0.662
18	57105337	A	T	18	59438105	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.98442882517761	0.522
18	57105338	C	A	18	59438106	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999965845723167	0.97
18	57105338	C	G	18	59438106	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999965845723167	0.984
18	57105338	C	T	18	59438106	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999971595970832	0.994
18	57105339	T	A	18	59438107	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999257381952791	0.94
18	57105339	T	C	18	59438107	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999076615398424	0.986
18	57105339	T	G	18	59438107	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999578019325514	0.894
18	57105340	T	A	18	59438108	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999845476634559	0.952
18	57105340	T	C	18	59438108	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.056492746266446	0.326
18	57105340	T	G	18	59438108	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999895177402011	0.924
18	57105341	A	C	18	59438109	y	y	splicing	CCBE1(NM_133459:exon11:c.987+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.987+2T>G;ENST00000398179:exon8:c.174+2T>G)	.	.	0.999988247793601	0.928
18	57105341	A	G	18	59438109	y	y	splicing	CCBE1(NM_133459:exon11:c.987+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.987+2T>C;ENST00000398179:exon8:c.174+2T>C)	.	.	0.992577803696025	0.668
18	57105341	A	T	18	59438109	y	y	splicing	CCBE1(NM_133459:exon11:c.987+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.987+2T>A;ENST00000398179:exon8:c.174+2T>A)	.	.	0.999988247793601	0.928
18	57105342	C	A	18	59438110	y	y	splicing	CCBE1(NM_133459:exon11:c.987+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.987+1G>T;ENST00000398179:exon8:c.174+1G>T)	.	.	0.999985532734767	0.936
18	57105342	C	G	18	59438110	y	y	splicing	CCBE1(NM_133459:exon11:c.987+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.987+1G>C;ENST00000398179:exon8:c.174+1G>C)	.	.	0.999985532734767	0.936
18	57105342	C	T	18	59438110	y	y	splicing	CCBE1(NM_133459:exon11:c.987+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.987+1G>A;ENST00000398179:exon8:c.174+1G>A)	.	.	0.999985532734767	0.936
18	57105343	T	A	18	59438111	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon10:c.A987T:p.P329P;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.A174T:p.P58P;ENSG00000183287:ENST00000439986:exon10:c.A987T:p.P329P;	0.00211750436754026	0.152
18	57105343	T	C	18	59438111	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon10:c.A987G:p.P329P;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.A174G:p.P58P;ENSG00000183287:ENST00000439986:exon10:c.A987G:p.P329P;	7.55980536378759E-5	0.05
18	57105343	T	G	18	59438111	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon10:c.A987C:p.P329P;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.A174C:p.P58P;ENSG00000183287:ENST00000439986:exon10:c.A987C:p.P329P;	3.58350643541737E-4	0.022
18	57105344	G	A	18	59438112	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.C986T:p.P329L;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.C173T:p.P58L;ENSG00000183287:ENST00000439986:exon10:c.C986T:p.P329L;	0.993757434126675	0.89
18	57105344	G	C	18	59438112	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.C986G:p.P329R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.C173G:p.P58R;ENSG00000183287:ENST00000439986:exon10:c.C986G:p.P329R;	0.984476487440101	0.918
18	57105344	G	T	18	59438112	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.C986A:p.P329Q;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.C173A:p.P58Q;ENSG00000183287:ENST00000439986:exon10:c.C986A:p.P329Q;	0.94662565703076	0.694
18	57105345	G	A	18	59438113	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.C985T:p.P329S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.C172T:p.P58S;ENSG00000183287:ENST00000439986:exon10:c.C985T:p.P329S;	0.996790511283394	0.762
18	57105345	G	C	18	59438113	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.C985G:p.P329A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.C172G:p.P58A;ENSG00000183287:ENST00000439986:exon10:c.C985G:p.P329A;	0.834870738477126	0.638
18	57105345	G	T	18	59438113	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.C985A:p.P329T;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.C172A:p.P58T;ENSG00000183287:ENST00000439986:exon10:c.C985A:p.P329T;	0.913174903741276	0.792
18	57105377	C	A	18	59438145	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.G953T:p.G318V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.G140T:p.G47V;ENSG00000183287:ENST00000439986:exon10:c.G953T:p.G318V;	0.971027949244145	0.89
18	57105377	C	G	18	59438145	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.G953C:p.G318A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.G140C:p.G47A;ENSG00000183287:ENST00000439986:exon10:c.G953C:p.G318A;	0.971232011293718	0.858
18	57105377	C	T	18	59438145	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.G953A:p.G318E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.G140A:p.G47E;ENSG00000183287:ENST00000439986:exon10:c.G953A:p.G318E;	0.975470088097922	0.89
18	57105378	C	A	18	59438146	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.G952T:p.G318W;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.G139T:p.G47W;ENSG00000183287:ENST00000439986:exon10:c.G952T:p.G318W;	0.999643349277528	0.968
18	57105378	C	G	18	59438146	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.G952C:p.G318R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.G139C:p.G47R;ENSG00000183287:ENST00000439986:exon10:c.G952C:p.G318R;	0.999647911798308	0.946
18	57105378	C	T	18	59438146	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon10:c.G952A:p.G318R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon7:c.G139A:p.G47R;ENSG00000183287:ENST00000439986:exon10:c.G952A:p.G318R;	0.999291086891156	0.94
18	57105379	C	A	18	59438147	y	y	splicing	CCBE1(NM_133459:exon11:c.952-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.952-1G>T;ENST00000398179:exon8:c.139-1G>T)	.	.	0.999985532734767	0.936
18	57105379	C	G	18	59438147	y	y	splicing	CCBE1(NM_133459:exon11:c.952-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.952-1G>C;ENST00000398179:exon8:c.139-1G>C)	.	.	0.999985532734767	0.936
18	57105379	C	T	18	59438147	y	y	splicing	CCBE1(NM_133459:exon11:c.952-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.952-1G>A;ENST00000398179:exon8:c.139-1G>A)	.	.	0.999985532734767	0.936
18	57105380	T	A	18	59438148	y	y	splicing	CCBE1(NM_133459:exon11:c.952-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.952-2A>T;ENST00000398179:exon8:c.139-2A>T)	.	.	0.999988247793601	0.928
18	57105380	T	C	18	59438148	y	y	splicing	CCBE1(NM_133459:exon11:c.952-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.952-2A>G;ENST00000398179:exon8:c.139-2A>G)	.	.	0.999988247793601	0.928
18	57105380	T	G	18	59438148	y	y	splicing	CCBE1(NM_133459:exon11:c.952-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon11:c.952-2A>C;ENST00000398179:exon8:c.139-2A>C)	.	.	0.999988247793601	0.928
18	57105381	A	C	18	59438149	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.973768771246349	0.59
18	57105381	A	G	18	59438149	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.24121113766992E-4	0.028
18	57105381	A	T	18	59438149	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00143850211656384	0.226
18	57105382	A	C	18	59438150	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.29192837523266E-4	0.002
18	57105382	A	G	18	59438150	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.22354531881232E-5	0.0
18	57105382	A	T	18	59438150	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.66787201305098E-4	0.004
18	57105383	A	C	18	59438151	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0895929460566615	0.384
18	57105383	A	G	18	59438151	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00479177963504245	0.034
18	57105383	A	T	18	59438151	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0364599819276352	0.348
18	57105384	A	C	18	59438152	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00550836612615646	0.138
18	57105384	A	G	18	59438152	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.34164365927455E-4	0.002
18	57105384	A	T	18	59438152	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00410352436874334	0.142
18	57105385	A	C	18	59438153	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00101577957927188	0.088
18	57105385	A	G	18	59438153	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.04663369196126E-5	0.016
18	57105385	A	T	18	59438153	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00212949912382906	0.088
18	57105386	C	A	18	59438154	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.58815732985882E-4	0.004
18	57105386	C	G	18	59438154	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.81239604935228E-4	0.004
18	57105386	C	T	18	59438154	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.13405257911154E-4	0.026
18	57105387	A	C	18	59438155	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.620565583335966	0.528
18	57105387	A	G	18	59438155	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.213844711006959	0.468
18	57105387	A	T	18	59438155	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.99990854300266	0.926
18	57105388	G	A	18	59438156	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	7.47175490810424E-6	0.012
18	57105388	G	C	18	59438156	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.85386834071446E-4	0.04
18	57105388	G	T	18	59438156	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.68587897398157E-4	0.14
18	57105389	A	C	18	59438157	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.06160891302523E-4	0.282
18	57105389	A	G	18	59438157	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.1206750780332E-4	0.108
18	57105389	A	T	18	59438157	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00105848288442618	0.392
18	57105390	A	C	18	59438158	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00431152631389476	0.212
18	57105390	A	G	18	59438158	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00346017663371443	0.09
18	57105390	A	T	18	59438158	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00526819518582469	0.224
18	57106767	A	C	18	59439535	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.72623768540605E-4	0.01
18	57106767	A	G	18	59439535	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.72623768540605E-4	0.014
18	57106767	A	T	18	59439535	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.69788345236195E-4	0.012
18	57106768	G	A	18	59439536	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.07022916301186E-4	0.012
18	57106768	G	C	18	59439536	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.39331619859259E-4	0.008
18	57106768	G	T	18	59439536	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.39331619859259E-4	0.002
18	57106769	G	A	18	59439537	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.0412156763787E-5	0.02
18	57106769	G	C	18	59439537	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.86852507906403E-5	0.038
18	57106769	G	T	18	59439537	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.62033303820433E-4	0.016
18	57106770	C	A	18	59439538	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.942845045651039	0.618
18	57106770	C	G	18	59439538	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.883138461033984	0.608
18	57106770	C	T	18	59439538	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.726687236363335	0.536
18	57106771	T	A	18	59439539	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0376467463339061	0.312
18	57106771	T	C	18	59439539	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0310744273367476	0.372
18	57106771	T	G	18	59439539	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0204837211212719	0.286
18	57106772	T	A	18	59439540	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.758631569234639	0.454
18	57106772	T	C	18	59439540	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00152151656308091	0.082
18	57106772	T	G	18	59439540	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.414737521152017	0.436
18	57106773	A	C	18	59439541	y	y	splicing	CCBE1(NM_133459:exon10:c.951+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.951+2T>G;ENST00000398179:exon7:c.138+2T>G)	.	.	0.999975930788337	0.942
18	57106773	A	G	18	59439541	y	y	splicing	CCBE1(NM_133459:exon10:c.951+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.951+2T>C;ENST00000398179:exon7:c.138+2T>C)	.	.	0.962497628385768	0.592
18	57106773	A	T	18	59439541	y	y	splicing	CCBE1(NM_133459:exon10:c.951+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.951+2T>A;ENST00000398179:exon7:c.138+2T>A)	.	.	0.999975706799895	0.944
18	57106774	C	A	18	59439542	y	y	splicing	CCBE1(NM_133459:exon10:c.951+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.951+1G>T;ENST00000398179:exon7:c.138+1G>T)	.	.	0.999915710762489	0.954
18	57106774	C	G	18	59439542	y	y	splicing	CCBE1(NM_133459:exon10:c.951+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.951+1G>C;ENST00000398179:exon7:c.138+1G>C)	.	.	0.999915710762489	0.954
18	57106774	C	T	18	59439542	y	y	splicing	CCBE1(NM_133459:exon10:c.951+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.951+1G>A;ENST00000398179:exon7:c.138+1G>A)	.	.	0.999915710762489	0.95
18	57106775	C	A	18	59439543	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.G951T:p.K317N;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G138T:p.K46N;ENSG00000183287:ENST00000439986:exon9:c.G951T:p.K317N;	0.993279551325799	0.812
18	57106775	C	G	18	59439543	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.G951C:p.K317N;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G138C:p.K46N;ENSG00000183287:ENST00000439986:exon9:c.G951C:p.K317N;	0.986848408320315	0.742
18	57106775	C	T	18	59439543	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon9:c.G951A:p.K317K;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G138A:p.K46K;ENSG00000183287:ENST00000439986:exon9:c.G951A:p.K317K;	0.824964439746801	0.732
18	57106776	T	A	18	59439544	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.A950T:p.K317M;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.A137T:p.K46M;ENSG00000183287:ENST00000439986:exon9:c.A950T:p.K317M;	0.989391441997631	0.696
18	57106776	T	C	18	59439544	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.A950G:p.K317R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.A137G:p.K46R;ENSG00000183287:ENST00000439986:exon9:c.A950G:p.K317R;	0.988926846077639	0.916
18	57106776	T	G	18	59439544	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.A950C:p.K317T;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.A137C:p.K46T;ENSG00000183287:ENST00000439986:exon9:c.A950C:p.K317T;	0.981911465569767	0.878
18	57106777	T	A	18	59439545	y	y	exonic	CCBE1	stopgain SNV	CCBE1:NM_133459:exon9:c.A949T:p.K317X;	exonic	ENSG00000183287	stopgain SNV	ENSG00000183287:ENST00000398179:exon6:c.A136T:p.K46X;ENSG00000183287:ENST00000439986:exon9:c.A949T:p.K317X;	0.857895878242414	0.574
18	57106777	T	C	18	59439545	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.A949G:p.K317E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.A136G:p.K46E;ENSG00000183287:ENST00000439986:exon9:c.A949G:p.K317E;	0.0514298734695329	0.332
18	57106777	T	G	18	59439545	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.A949C:p.K317Q;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.A136C:p.K46Q;ENSG00000183287:ENST00000439986:exon9:c.A949C:p.K317Q;	0.331219447520482	0.508
18	57106809	C	A	18	59439577	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.G917T:p.G306V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G104T:p.G35V;ENSG00000183287:ENST00000439986:exon9:c.G917T:p.G306V;	0.0119654588414503	0.09
18	57106809	C	G	18	59439577	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.G917C:p.G306A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G104C:p.G35A;ENSG00000183287:ENST00000439986:exon9:c.G917C:p.G306A;	0.015600496206965	0.168
18	57106809	C	T	18	59439577	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.G917A:p.G306D;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G104A:p.G35D;ENSG00000183287:ENST00000439986:exon9:c.G917A:p.G306D;	0.0867796015505935	0.408
18	57106810	C	A	18	59439578	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.G916T:p.G306C;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G103T:p.G35C;ENSG00000183287:ENST00000439986:exon9:c.G916T:p.G306C;	0.98492461006739	0.846
18	57106810	C	G	18	59439578	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.G916C:p.G306R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G103C:p.G35R;ENSG00000183287:ENST00000439986:exon9:c.G916C:p.G306R;	0.99160455210871	0.758
18	57106810	C	T	18	59439578	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon9:c.G916A:p.G306S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon6:c.G103A:p.G35S;ENSG00000183287:ENST00000439986:exon9:c.G916A:p.G306S;	0.966758129104812	0.702
18	57106811	C	A	18	59439579	y	y	splicing	CCBE1(NM_133459:exon10:c.916-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.916-1G>T;ENST00000398179:exon7:c.103-1G>T)	.	.	0.999983516200275	0.766
18	57106811	C	G	18	59439579	y	y	splicing	CCBE1(NM_133459:exon10:c.916-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.916-1G>C;ENST00000398179:exon7:c.103-1G>C)	.	.	0.999983516200275	0.766
18	57106811	C	T	18	59439579	y	y	splicing	CCBE1(NM_133459:exon10:c.916-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.916-1G>A;ENST00000398179:exon7:c.103-1G>A)	.	.	0.999983516200275	0.768
18	57106812	T	A	18	59439580	y	y	splicing	CCBE1(NM_133459:exon10:c.916-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.916-2A>T;ENST00000398179:exon7:c.103-2A>T)	.	.	0.999984399620937	0.75
18	57106812	T	C	18	59439580	y	y	splicing	CCBE1(NM_133459:exon10:c.916-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.916-2A>G;ENST00000398179:exon7:c.103-2A>G)	.	.	0.999989378869813	0.754
18	57106812	T	G	18	59439580	y	y	splicing	CCBE1(NM_133459:exon10:c.916-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon10:c.916-2A>C;ENST00000398179:exon7:c.103-2A>C)	.	.	0.999989378869813	0.754
18	57106813	G	A	18	59439581	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.41783617054928E-4	0.01
18	57106813	G	C	18	59439581	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.985569753730427	0.618
18	57106813	G	T	18	59439581	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.176774499209853	0.236
18	57106814	T	A	18	59439582	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.80549370985495E-5	0.008
18	57106814	T	C	18	59439582	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.46331696572786E-5	0.002
18	57106814	T	G	18	59439582	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.95523612134504E-5	0.004
18	57106815	A	C	18	59439583	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.361856042312292	0.34
18	57106815	A	G	18	59439583	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.75945133853549E-4	0.004
18	57106815	A	T	18	59439583	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.301211908064531	0.404
18	57106816	A	C	18	59439584	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999970223886894	0.986
18	57106816	A	G	18	59439584	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00217925671457155	0.09
18	57106816	A	T	18	59439584	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.989080560532101	0.666
18	57106817	T	A	18	59439585	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.1460617967268E-5	0.006
18	57106817	T	C	18	59439585	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.53413047101044E-5	0.002
18	57106817	T	G	18	59439585	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.6125525040895E-5	0.008
18	57106818	A	C	18	59439586	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.182638348411378	0.4
18	57106818	A	G	18	59439586	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.55040805336406E-5	0.002
18	57106818	A	T	18	59439586	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0643646488969522	0.306
18	57106819	C	A	18	59439587	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.16761693241165E-4	0.0
18	57106819	C	G	18	59439587	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.06711246860596E-5	0.004
18	57106819	C	T	18	59439587	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.03459709391336E-5	0.002
18	57106820	A	C	18	59439588	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.352423112933902	0.404
18	57106820	A	G	18	59439588	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.83044334782203E-4	0.002
18	57106820	A	T	18	59439588	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999912613965543	0.978
18	57106821	A	C	18	59439589	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0249492136256258	0.3
18	57106821	A	G	18	59439589	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.44915225760952E-4	0.05
18	57106821	A	T	18	59439589	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.165304801294993	0.32
18	57106822	A	C	18	59439590	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0356098280839186	0.47
18	57106822	A	G	18	59439590	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.50686480136049E-4	0.044
18	57106822	A	T	18	59439590	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0581561505323538	0.472
18	57106901	A	C	18	59439669	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0029322433712333	0.06
18	57106901	A	G	18	59439669	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00513169608300129	0.068
18	57106901	A	T	18	59439669	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00502980052641007	0.042
18	57106902	T	A	18	59439670	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.81118377237699E-4	0.062
18	57106902	T	C	18	59439670	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.074838152507E-4	0.07
18	57106902	T	G	18	59439670	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.78543784569763E-4	0.046
18	57106903	A	C	18	59439671	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.998896240407995	0.936
18	57106903	A	G	18	59439671	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.998110726428239	0.946
18	57106903	A	T	18	59439671	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.998759999202226	0.846
18	57106904	C	A	18	59439672	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999944926156238	0.98
18	57106904	C	G	18	59439672	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999860498033464	0.996
18	57106904	C	T	18	59439672	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999859422527519	1.0
18	57106905	T	A	18	59439673	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999727106548895	0.958
18	57106905	T	C	18	59439673	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.99977314891298	0.972
18	57106905	T	G	18	59439673	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999889923154483	0.948
18	57106906	G	A	18	59439674	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.52575151917666E-4	0.124
18	57106906	G	C	18	59439674	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.91482353411633E-4	0.084
18	57106906	G	T	18	59439674	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00121697132360767	0.104
18	57106907	A	C	18	59439675	y	y	splicing	CCBE1(NM_133459:exon9:c.915+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.915+2T>G)	.	.	0.999991823630654	0.944
18	57106907	A	G	18	59439675	y	y	splicing	CCBE1(NM_133459:exon9:c.915+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.915+2T>C)	.	.	0.999891857806818	0.924
18	57106907	A	T	18	59439675	y	y	splicing	CCBE1(NM_133459:exon9:c.915+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.915+2T>A)	.	.	0.999991823630654	0.944
18	57106908	C	A	18	59439676	y	y	splicing	CCBE1(NM_133459:exon9:c.915+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.915+1G>T)	.	.	0.999979422316293	0.954
18	57106908	C	G	18	59439676	y	y	splicing	CCBE1(NM_133459:exon9:c.915+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.915+1G>C)	.	.	0.999979422316293	0.954
18	57106908	C	T	18	59439676	y	y	splicing	CCBE1(NM_133459:exon9:c.915+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.915+1G>A)	.	.	0.999979422316293	0.954
18	57106909	C	A	18	59439677	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon8:c.G915T:p.V305V;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G915T:p.V305V;	0.999943104485102	0.972
18	57106909	C	G	18	59439677	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon8:c.G915C:p.V305V;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G915C:p.V305V;	0.999978915013805	0.944
18	57106909	C	T	18	59439677	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon8:c.G915A:p.V305V;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G915A:p.V305V;	0.999983351703746	0.976
18	57106910	A	C	18	59439678	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.T914G:p.V305G;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.T914G:p.V305G;	0.925306529477933	0.714
18	57106910	A	G	18	59439678	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.T914C:p.V305A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.T914C:p.V305A;	0.905731578924952	0.828
18	57106910	A	T	18	59439678	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.T914A:p.V305E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.T914A:p.V305E;	0.542383783088254	0.664
18	57106911	C	A	18	59439679	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.G913T:p.V305L;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G913T:p.V305L;	0.839732786231113	0.824
18	57106911	C	G	18	59439679	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.G913C:p.V305L;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G913C:p.V305L;	0.585321413081198	0.706
18	57106911	C	T	18	59439679	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.G913A:p.V305M;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G913A:p.V305M;	0.585321413081198	0.756
18	57107047	G	A	18	59439815	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon8:c.C777T:p.G259G;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.C777T:p.G259G;	1.8714744248907E-4	0.014
18	57107047	G	C	18	59439815	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon8:c.C777G:p.G259G;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.C777G:p.G259G;	1.17412316525745E-4	0.012
18	57107047	G	T	18	59439815	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon8:c.C777A:p.G259G;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.C777A:p.G259G;	9.36366428791798E-5	0.042
18	57107048	C	A	18	59439816	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.G776T:p.G259V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G776T:p.G259V;	0.997365414604131	0.964
18	57107048	C	G	18	59439816	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.G776C:p.G259A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G776C:p.G259A;	0.995726708912561	0.926
18	57107048	C	T	18	59439816	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon8:c.G776A:p.G259D;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon8:c.G776A:p.G259D;	0.905221421717393	0.76
18	57107049	C	A	18	59439817	y	y	splicing	CCBE1(NM_133459:exon9:c.776-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.776-1G>T)	.	.	0.999982087414462	0.936
18	57107049	C	G	18	59439817	y	y	splicing	CCBE1(NM_133459:exon9:c.776-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.776-1G>C)	.	.	0.999982087414462	0.936
18	57107049	C	T	18	59439817	y	y	splicing	CCBE1(NM_133459:exon9:c.776-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.776-1G>A)	.	.	0.999982087414462	0.936
18	57107050	T	A	18	59439818	y	y	splicing	CCBE1(NM_133459:exon9:c.776-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.776-2A>T)	.	.	0.999992752818502	0.926
18	57107050	T	C	18	59439818	y	y	splicing	CCBE1(NM_133459:exon9:c.776-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.776-2A>G)	.	.	0.999992752818502	0.926
18	57107050	T	G	18	59439818	y	y	splicing	CCBE1(NM_133459:exon9:c.776-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon9:c.776-2A>C)	.	.	0.999992752818502	0.926
18	57107051	G	A	18	59439819	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0499178177792548	0.132
18	57107051	G	C	18	59439819	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999595338375243	0.904
18	57107051	G	T	18	59439819	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.987110882205105	0.75
18	57107052	T	A	18	59439820	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.56389230232821E-4	0.072
18	57107052	T	C	18	59439820	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.07424076049612E-4	0.002
18	57107052	T	G	18	59439820	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.80481685325387E-5	0.002
18	57107053	A	C	18	59439821	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.963028665033786	0.824
18	57107053	A	G	18	59439821	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00624836878106445	0.098
18	57107053	A	T	18	59439821	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.981047726247533	0.812
18	57107054	A	C	18	59439822	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999962158914905	0.934
18	57107054	A	G	18	59439822	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00159791894480797	0.052
18	57107054	A	T	18	59439822	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.975295038810917	0.812
18	57107055	T	A	18	59439823	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	7.90010131222712E-4	0.048
18	57107055	T	C	18	59439823	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.004423833654177	0.064
18	57107055	T	G	18	59439823	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00246660265958838	0.05
18	57107056	C	A	18	59439824	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.35377730756597E-4	0.022
18	57107056	C	G	18	59439824	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.580602987946E-4	0.04
18	57107056	C	T	18	59439824	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.4338571555006E-5	0.0
18	57107057	A	C	18	59439825	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.462993846676413	0.55
18	57107057	A	G	18	59439825	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.4443348806624E-4	0.078
18	57107057	A	T	18	59439825	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999783963778957	0.946
18	57107058	A	C	18	59439826	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.973430324091945	0.688
18	57107058	A	G	18	59439826	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00318376291147234	0.09
18	57107058	A	T	18	59439826	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.928920315163085	0.69
18	57107059	A	C	18	59439827	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.851728967675642	0.516
18	57107059	A	G	18	59439827	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0515430211444106	0.122
18	57107059	A	T	18	59439827	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.980859246635207	0.708
18	57107060	G	A	18	59439828	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.68311919265206E-4	0.064
18	57107060	G	C	18	59439828	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.80039822632786E-4	0.026
18	57107060	G	T	18	59439828	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0058509947220121	0.228
18	57115207	A	C	18	59447975	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.93286965862268E-4	0.002
18	57115207	A	G	18	59447975	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.63652526185181E-5	0.0
18	57115207	A	T	18	59447975	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.53200954525579E-5	0.0
18	57115208	C	A	18	59447976	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	7.46686912350355E-5	0.0
18	57115208	C	G	18	59447976	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.3427982531725E-5	0.0
18	57115208	C	T	18	59447976	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.3427982531725E-5	0.0
18	57115209	A	C	18	59447977	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0424351684474212	0.374
18	57115209	A	G	18	59447977	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.519722331858808	0.536
18	57115209	A	T	18	59447977	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.434054723998391	0.446
18	57115210	C	A	18	59447978	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.99955027643243	0.89
18	57115210	C	G	18	59447978	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999649434313359	0.918
18	57115210	C	T	18	59447978	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.995119618328672	0.928
18	57115211	T	A	18	59447979	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.982625482249501	0.704
18	57115211	T	C	18	59447979	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.757202349067945	0.65
18	57115211	T	G	18	59447979	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.711588103882526	0.516
18	57115212	C	A	18	59447980	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.471255008682545	0.486
18	57115212	C	G	18	59447980	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.653089474713408	0.484
18	57115212	C	T	18	59447980	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.38111095854172E-5	0.01
18	57115213	A	C	18	59447981	y	y	splicing	CCBE1(NM_133459:exon8:c.775+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.775+2T>G;ENST00000398179:exon6:c.102+2T>G)	.	.	0.999946188727699	0.928
18	57115213	A	G	18	59447981	y	y	splicing	CCBE1(NM_133459:exon8:c.775+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.775+2T>C;ENST00000398179:exon6:c.102+2T>C)	.	.	0.99977625413074	0.898
18	57115213	A	T	18	59447981	y	y	splicing	CCBE1(NM_133459:exon8:c.775+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.775+2T>A;ENST00000398179:exon6:c.102+2T>A)	.	.	0.999946188727699	0.944
18	57115214	C	A	18	59447982	y	y	splicing	CCBE1(NM_133459:exon8:c.775+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.775+1G>T;ENST00000398179:exon6:c.102+1G>T)	.	.	0.999938990645747	0.946
18	57115214	C	G	18	59447982	y	y	splicing	CCBE1(NM_133459:exon8:c.775+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.775+1G>C;ENST00000398179:exon6:c.102+1G>C)	.	.	0.999938990645747	0.944
18	57115214	C	T	18	59447982	y	y	splicing	CCBE1(NM_133459:exon8:c.775+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.775+1G>A;ENST00000398179:exon6:c.102+1G>A)	.	.	0.999938422912956	0.946
18	57115215	C	A	18	59447983	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.G775T:p.G259C;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.G775T:p.G259C;	0.999905453993328	0.932
18	57115215	C	G	18	59447983	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.G775C:p.G259R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.G775C:p.G259R;	0.999982947725636	0.976
18	57115215	C	T	18	59447983	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.G775A:p.G259S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.G775A:p.G259S;	0.999925970693948	0.98
18	57115216	G	A	18	59447984	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon7:c.C774T:p.P258P;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon5:c.C101T:p.P34L;	5.64237700321387E-5	0.022
18	57115216	G	C	18	59447984	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon7:c.C774G:p.P258P;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon5:c.C101G:p.P34R;	6.33318620462929E-5	0.002
18	57115216	G	T	18	59447984	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon7:c.C774A:p.P258P;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon5:c.C101A:p.P34Q;	5.67244929788519E-5	0.044
18	57115217	G	A	18	59447985	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.C773T:p.P258L;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon5:c.C100T:p.P34S;ENSG00000183287:ENST00000439986:exon7:c.C773T:p.P258L;	0.284431830543311	0.264
18	57115217	G	C	18	59447985	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.C773G:p.P258R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon5:c.C100G:p.P34A;ENSG00000183287:ENST00000439986:exon7:c.C773G:p.P258R;	0.00231420655884348	0.102
18	57115217	G	T	18	59447985	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.C773A:p.P258H;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000398179:exon5:c.C100A:p.P34T;ENSG00000183287:ENST00000439986:exon7:c.C773A:p.P258H;	0.011146491786327	0.118
18	57115334	A	C	18	59448102	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.T656G:p.I219S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.T656G:p.I219S;ENSG00000183287:ENST00000589419:exon6:c.T83G:p.I28S;	0.00919219125114715	0.088
18	57115334	A	G	18	59448102	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.T656C:p.I219T;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.T656C:p.I219T;ENSG00000183287:ENST00000589419:exon6:c.T83C:p.I28T;	0.00676839729821359	0.076
18	57115334	A	T	18	59448102	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.T656A:p.I219N;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.T656A:p.I219N;ENSG00000183287:ENST00000589419:exon6:c.T83A:p.I28N;	0.00884535161993957	0.112
18	57115335	T	A	18	59448103	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.A655T:p.I219F;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.A655T:p.I219F;ENSG00000183287:ENST00000589419:exon6:c.A82T:p.I28F;	0.00133648514735307	0.026
18	57115335	T	C	18	59448103	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.A655G:p.I219V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.A655G:p.I219V;ENSG00000183287:ENST00000589419:exon6:c.A82G:p.I28V;	9.58155210527681E-5	0.002
18	57115335	T	G	18	59448103	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon7:c.A655C:p.I219L;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon7:c.A655C:p.I219L;ENSG00000183287:ENST00000589419:exon6:c.A82C:p.I28L;	4.70133445066913E-4	0.036
18	57115336	C	A	18	59448104	y	y	splicing	CCBE1(NM_133459:exon8:c.655-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.655-1G>T;ENST00000589419:exon7:c.82-1G>T)	.	.	0.999938422912956	0.942
18	57115336	C	G	18	59448104	y	y	splicing	CCBE1(NM_133459:exon8:c.655-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.655-1G>C;ENST00000589419:exon7:c.82-1G>C)	.	.	0.999938422912956	0.942
18	57115336	C	T	18	59448104	y	y	splicing	CCBE1(NM_133459:exon8:c.655-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.655-1G>A;ENST00000589419:exon7:c.82-1G>A)	.	.	0.999938422912956	0.93
18	57115337	T	A	18	59448105	y	y	splicing	CCBE1(NM_133459:exon8:c.655-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.655-2A>T;ENST00000589419:exon7:c.82-2A>T)	.	.	0.99994568797423	0.944
18	57115337	T	C	18	59448105	y	y	splicing	CCBE1(NM_133459:exon8:c.655-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.655-2A>G;ENST00000589419:exon7:c.82-2A>G)	.	.	0.999946188727699	0.946
18	57115337	T	G	18	59448105	y	y	splicing	CCBE1(NM_133459:exon8:c.655-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon8:c.655-2A>C;ENST00000589419:exon7:c.82-2A>C)	.	.	0.999946188727699	0.946
18	57115338	G	A	18	59448106	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00394234020768444	0.158
18	57115338	G	C	18	59448106	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999859840354777	0.98
18	57115338	G	T	18	59448106	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.557683316347049	0.506
18	57115339	C	A	18	59448107	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.59800381926292E-5	0.0
18	57115339	C	G	18	59448107	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.46685415519269E-5	0.002
18	57115339	C	T	18	59448107	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.4082718318947E-5	0.006
18	57115340	A	C	18	59448108	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0126167727172733	0.268
18	57115340	A	G	18	59448108	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00148274071190905	0.022
18	57115340	A	T	18	59448108	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.983027563621878	0.764
18	57115341	A	C	18	59448109	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.10468955864847E-4	0.072
18	57115341	A	G	18	59448109	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.92133899576826E-5	0.0
18	57115341	A	T	18	59448109	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.09931535087227E-4	0.008
18	57115342	G	A	18	59448110	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.82087187900128E-5	0.002
18	57115342	G	C	18	59448110	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.0753130342761E-5	0.038
18	57115342	G	T	18	59448110	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.36598544027871E-5	0.05
18	57115343	G	A	18	59448111	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.41712166046489E-4	0.004
18	57115343	G	C	18	59448111	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.5911280389147E-4	0.042
18	57115343	G	T	18	59448111	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00109772783831629	0.058
18	57115344	A	C	18	59448112	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.71382065705564E-4	0.04
18	57115344	A	G	18	59448112	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.86414003968914E-5	0.002
18	57115344	A	T	18	59448112	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.7248363538049E-4	0.042
18	57115345	G	A	18	59448113	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.09090527658E-5	0.002
18	57115345	G	C	18	59448113	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.05756190575932E-4	0.024
18	57115345	G	T	18	59448113	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.92315397395558E-4	0.036
18	57115346	A	C	18	59448114	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00595728655297332	0.224
18	57115346	A	G	18	59448114	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.2887041892065E-4	0.066
18	57115346	A	T	18	59448114	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00710724293960129	0.29
18	57115347	A	C	18	59448115	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.91275185488167E-4	0.058
18	57115347	A	G	18	59448115	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.68578038817574E-5	0.002
18	57115347	A	T	18	59448115	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.45717860479134E-4	0.114
18	57122075	G	A	18	59454843	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.82304506123712E-5	0.006
18	57122075	G	C	18	59454843	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.19926762392118E-5	0.0
18	57122075	G	T	18	59454843	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.22084462061927E-4	0.002
18	57122076	C	A	18	59454844	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.02337758398172E-4	0.0
18	57122076	C	G	18	59454844	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.02337758398172E-4	0.0
18	57122076	C	T	18	59454844	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.02337758398172E-4	0.0
18	57122077	A	C	18	59454845	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.6073074456339E-4	0.078
18	57122077	A	G	18	59454845	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00560021900180655	0.154
18	57122077	A	T	18	59454845	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0028344376787132	0.108
18	57122078	C	A	18	59454846	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.67177628556234	0.556
18	57122078	C	G	18	59454846	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.670640702314821	0.524
18	57122078	C	T	18	59454846	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.891355889849695	0.516
18	57122079	G	A	18	59454847	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.08354745705527E-4	0.072
18	57122079	G	C	18	59454847	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	7.52024986350074E-5	0.012
18	57122079	G	T	18	59454847	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.84471356665119E-5	0.046
18	57122080	T	A	18	59454848	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.275622578803423	0.316
18	57122080	T	C	18	59454848	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00157027679507275	0.162
18	57122080	T	G	18	59454848	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.808919944703505	0.47
18	57122081	A	C	18	59454849	y	y	splicing	CCBE1(NM_133459:exon7:c.654+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.654+2T>G;ENST00000589419:exon6:c.81+2T>G)	.	.	0.999989917668626	0.926
18	57122081	A	G	18	59454849	y	y	splicing	CCBE1(NM_133459:exon7:c.654+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.654+2T>C;ENST00000589419:exon6:c.81+2T>C)	.	.	0.985266808656705	0.604
18	57122081	A	T	18	59454849	y	y	splicing	CCBE1(NM_133459:exon7:c.654+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.654+2T>A;ENST00000589419:exon6:c.81+2T>A)	.	.	0.999989917668626	0.926
18	57122082	C	A	18	59454850	y	y	splicing	CCBE1(NM_133459:exon7:c.654+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.654+1G>T;ENST00000589419:exon6:c.81+1G>T)	.	.	0.999986675681007	0.932
18	57122082	C	G	18	59454850	y	y	splicing	CCBE1(NM_133459:exon7:c.654+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.654+1G>C;ENST00000589419:exon6:c.81+1G>C)	.	.	0.999986675681007	0.932
18	57122082	C	T	18	59454850	y	y	splicing	CCBE1(NM_133459:exon7:c.654+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.654+1G>A;ENST00000589419:exon6:c.81+1G>A)	.	.	0.999986675681007	0.932
18	57122083	C	A	18	59454851	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.G654T:p.K218N;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.G654T:p.K218N;ENSG00000183287:ENST00000589419:exon5:c.G81T:p.K27N;	0.999914077119747	0.966
18	57122083	C	G	18	59454851	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.G654C:p.K218N;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.G654C:p.K218N;ENSG00000183287:ENST00000589419:exon5:c.G81C:p.K27N;	0.999836909808549	0.958
18	57122083	C	T	18	59454851	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon6:c.G654A:p.K218K;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.G654A:p.K218K;ENSG00000183287:ENST00000589419:exon5:c.G81A:p.K27K;	0.998775752394959	0.942
18	57122084	T	A	18	59454852	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A653T:p.K218M;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.A653T:p.K218M;ENSG00000183287:ENST00000589419:exon5:c.A80T:p.K27M;	0.994056893396944	0.824
18	57122084	T	C	18	59454852	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A653G:p.K218R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.A653G:p.K218R;ENSG00000183287:ENST00000589419:exon5:c.A80G:p.K27R;	0.992786105936115	0.912
18	57122084	T	G	18	59454852	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A653C:p.K218T;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.A653C:p.K218T;ENSG00000183287:ENST00000589419:exon5:c.A80C:p.K27T;	0.988141356090507	0.906
18	57122085	T	A	18	59454853	y	y	exonic	CCBE1	stopgain SNV	CCBE1:NM_133459:exon6:c.A652T:p.K218X;	exonic	ENSG00000183287	stopgain SNV	ENSG00000183287:ENST00000439986:exon6:c.A652T:p.K218X;ENSG00000183287:ENST00000589419:exon5:c.A79T:p.K27X;	0.92071793905407	0.606
18	57122085	T	C	18	59454853	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A652G:p.K218E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.A652G:p.K218E;ENSG00000183287:ENST00000589419:exon5:c.A79G:p.K27E;	0.104296147379183	0.296
18	57122085	T	G	18	59454853	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A652C:p.K218Q;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.A652C:p.K218Q;ENSG00000183287:ENST00000589419:exon5:c.A79C:p.K27Q;	0.549146573319897	0.522
18	57122182	G	A	18	59454950	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon6:c.C555T:p.G185G;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.C555T:p.G185G;	5.37579383555184E-5	0.07
18	57122182	G	C	18	59454950	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon6:c.C555G:p.G185G;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.C555G:p.G185G;	1.32467854006397E-4	0.126
18	57122182	G	T	18	59454950	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon6:c.C555A:p.G185G;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.C555A:p.G185G;	1.87726542823021E-4	0.124
18	57122183	C	A	18	59454951	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.G554T:p.G185V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.G554T:p.G185V;	0.998691481186635	0.958
18	57122183	C	G	18	59454951	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.G554C:p.G185A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.G554C:p.G185A;	0.951194345165602	0.804
18	57122183	C	T	18	59454951	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.G554A:p.G185D;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon6:c.G554A:p.G185D;	0.998323313406665	0.77
18	57122184	C	A	18	59454952	y	y	splicing	CCBE1(NM_133459:exon7:c.554-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.554-1G>T)	.	.	0.999938422912956	0.942
18	57122184	C	G	18	59454952	y	y	splicing	CCBE1(NM_133459:exon7:c.554-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.554-1G>C)	.	.	0.999938422912956	0.942
18	57122184	C	T	18	59454952	y	y	splicing	CCBE1(NM_133459:exon7:c.554-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.554-1G>A)	.	.	0.999938422912956	0.932
18	57122185	T	A	18	59454953	y	y	splicing	CCBE1(NM_133459:exon7:c.554-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.554-2A>T)	.	.	0.999988247793601	0.924
18	57122185	T	C	18	59454953	y	y	splicing	CCBE1(NM_133459:exon7:c.554-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.554-2A>G)	.	.	0.999978952611685	0.926
18	57122185	T	G	18	59454953	y	y	splicing	CCBE1(NM_133459:exon7:c.554-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon7:c.554-2A>C)	.	.	0.999978952611685	0.926
18	57122186	G	A	18	59454954	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0266032535979583	0.066
18	57122186	G	C	18	59454954	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999791005294467	0.962
18	57122186	G	T	18	59454954	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.673905166757077	0.548
18	57122187	A	C	18	59454955	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.57935721741929E-5	0.01
18	57122187	A	G	18	59454955	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.34557325016732E-5	0.004
18	57122187	A	T	18	59454955	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.51599125453328E-5	0.0
18	57122188	G	A	18	59454956	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.00408944132301E-4	0.028
18	57122188	G	C	18	59454956	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0077525994648743	0.12
18	57122188	G	T	18	59454956	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00133188461095086	0.042
18	57122189	A	C	18	59454957	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.75663794947983E-4	0.082
18	57122189	A	G	18	59454957	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.53325705469816E-5	0.02
18	57122189	A	T	18	59454957	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00221600834831782	0.092
18	57122190	A	C	18	59454958	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0114467634564263	0.194
18	57122190	A	G	18	59454958	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.2146945876811E-4	0.002
18	57122190	A	T	18	59454958	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0211027364023662	0.178
18	57122191	A	C	18	59454959	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.58025446501823E-4	0.062
18	57122191	A	G	18	59454959	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.26271818837823E-4	0.004
18	57122191	A	T	18	59454959	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.23935452559092E-4	0.102
18	57122192	G	A	18	59454960	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.2638974823859E-4	0.11
18	57122192	G	C	18	59454960	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.55130426351233E-5	0.034
18	57122192	G	T	18	59454960	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.89796770360217E-5	0.032
18	57122193	G	A	18	59454961	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00187762664780266	0.102
18	57122193	G	C	18	59454961	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0342111447359881	0.138
18	57122193	G	T	18	59454961	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0730580147008398	0.12
18	57122194	A	C	18	59454962	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.18992617995938E-4	0.198
18	57122194	A	G	18	59454962	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.40749739573658E-5	0.1
18	57122194	A	T	18	59454962	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00206852963095873	0.276
18	57122195	G	A	18	59454963	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.93168849336606	0.71
18	57122195	G	C	18	59454963	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.878325225452415	0.634
18	57122195	G	T	18	59454963	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.87526176088648	0.656
18	57133963	C	A	18	59466731	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.01174165683835E-5	0.004
18	57133963	C	G	18	59466731	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.87945186568028E-6	0.004
18	57133963	C	T	18	59466731	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.57955096384892E-5	0.006
18	57133964	T	A	18	59466732	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.847159545715E-5	0.016
18	57133964	T	C	18	59466732	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.28303854852505E-5	0.016
18	57133964	T	G	18	59466732	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.15665240196735E-5	0.016
18	57133965	A	C	18	59466733	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.7685139903485E-4	0.22
18	57133965	A	G	18	59466733	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00250580686877941	0.336
18	57133965	A	T	18	59466733	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0022389845134553	0.3
18	57133966	C	A	18	59466734	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.990634772259456	0.708
18	57133966	C	G	18	59466734	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.997257290339234	0.738
18	57133966	C	T	18	59466734	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.990211824021666	0.672
18	57133967	T	A	18	59466735	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.213855512672185	0.43
18	57133967	T	C	18	59466735	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.301642598297429	0.468
18	57133967	T	G	18	59466735	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.074722271164632	0.358
18	57133968	T	A	18	59466736	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.232521890002883	0.44
18	57133968	T	C	18	59466736	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.70510934867058E-4	0.022
18	57133968	T	G	18	59466736	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.476897859591386	0.486
18	57133969	A	C	18	59466737	y	y	splicing	CCBE1(NM_133459:exon6:c.553+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.553+2T>G)	.	.	0.999989378869813	0.754
18	57133969	A	G	18	59466737	y	y	splicing	CCBE1(NM_133459:exon6:c.553+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.553+2T>C)	.	.	0.916223517375126	0.476
18	57133969	A	T	18	59466737	y	y	splicing	CCBE1(NM_133459:exon6:c.553+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.553+2T>A)	.	.	0.999989378869813	0.752
18	57133970	C	A	18	59466738	y	y	splicing	CCBE1(NM_133459:exon6:c.553+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.553+1G>T)	.	.	0.999955942530675	0.776
18	57133970	C	G	18	59466738	y	y	splicing	CCBE1(NM_133459:exon6:c.553+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.553+1G>C)	.	.	0.999955942530675	0.768
18	57133970	C	T	18	59466738	y	y	splicing	CCBE1(NM_133459:exon6:c.553+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.553+1G>A)	.	.	0.999955942530675	0.772
18	57133971	C	A	18	59466739	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.G553T:p.G185C;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.G553T:p.G185C;	0.968206255248838	0.768
18	57133971	C	G	18	59466739	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.G553C:p.G185R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.G553C:p.G185R;	0.981272264135283	0.77
18	57133971	C	T	18	59466739	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.G553A:p.G185S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.G553A:p.G185S;	0.894071760246199	0.564
18	57133972	A	C	18	59466740	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon5:c.T552G:p.T184T;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.T552G:p.T184T;	3.1928592625538E-5	0.0
18	57133972	A	G	18	59466740	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon5:c.T552C:p.T184T;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.T552C:p.T184T;	2.08933069844671E-5	0.006
18	57133972	A	T	18	59466740	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon5:c.T552A:p.T184T;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.T552A:p.T184T;	5.4862757482763E-5	0.054
18	57133973	G	A	18	59466741	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.C551T:p.T184I;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.C551T:p.T184I;	0.00311963462872987	0.17
18	57133973	G	C	18	59466741	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.C551G:p.T184S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.C551G:p.T184S;	2.14307684978235E-4	0.022
18	57133973	G	T	18	59466741	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.C551A:p.T184N;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.C551A:p.T184N;	4.84430285725521E-4	0.032
18	57134122	A	C	18	59466890	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.T402G:p.D134E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.T402G:p.D134E;	1.4009863128808E-4	0.236
18	57134122	A	G	18	59466890	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon5:c.T402C:p.D134D;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.T402C:p.D134D;	0.0015923217530678	0.068
18	57134122	A	T	18	59466890	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.T402A:p.D134E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.T402A:p.D134E;	5.14665983783468E-5	0.094
18	57134123	T	A	18	59466891	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.A401T:p.D134V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.A401T:p.D134V;	0.458363778026208	0.418
18	57134123	T	C	18	59466891	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.A401G:p.D134G;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.A401G:p.D134G;	0.493109015969207	0.648
18	57134123	T	G	18	59466891	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.A401C:p.D134A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon5:c.A401C:p.D134A;	0.444425029514023	0.466
18	57134124	C	A	18	59466892	y	y	splicing	CCBE1(NM_133459:exon6:c.401-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.401-1G>T)	.	.	0.999982634722872	0.902
18	57134124	C	G	18	59466892	y	y	splicing	CCBE1(NM_133459:exon6:c.401-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.401-1G>C)	.	.	0.999982634722872	0.902
18	57134124	C	T	18	59466892	y	y	splicing	CCBE1(NM_133459:exon6:c.401-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.401-1G>A)	.	.	0.999982634722872	0.902
18	57134125	T	A	18	59466893	y	y	splicing	CCBE1(NM_133459:exon6:c.401-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.401-2A>T)	.	.	0.99995093252474	0.902
18	57134125	T	C	18	59466893	y	y	splicing	CCBE1(NM_133459:exon6:c.401-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.401-2A>G)	.	.	0.99995093252474	0.902
18	57134125	T	G	18	59466893	y	y	splicing	CCBE1(NM_133459:exon6:c.401-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon6:c.401-2A>C)	.	.	0.99995093252474	0.902
18	57134126	G	A	18	59466894	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0037634100624491	0.138
18	57134126	G	C	18	59466894	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.998105521657012	0.844
18	57134126	G	T	18	59466894	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.98837315247178	0.896
18	57134127	G	A	18	59466895	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.04628543534438E-4	0.028
18	57134127	G	C	18	59466895	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.838372577044484	0.596
18	57134127	G	T	18	59466895	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.62137847606958E-4	0.104
18	57134128	T	A	18	59466896	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.42694040756883E-4	0.022
18	57134128	T	C	18	59466896	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.998767063549558	0.94
18	57134128	T	G	18	59466896	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.78725657657088E-4	0.04
18	57134129	T	A	18	59466897	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.86124155731599E-4	0.018
18	57134129	T	C	18	59466897	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.998657257419056	0.962
18	57134129	T	G	18	59466897	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.80630260661567E-4	0.016
18	57134130	T	A	18	59466898	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.12046541745626E-4	0.02
18	57134130	T	C	18	59466898	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.61747472163531E-4	0.046
18	57134130	T	G	18	59466898	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.58837851633268E-4	0.014
18	57134131	G	A	18	59466899	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.34951569878026E-5	0.008
18	57134131	G	C	18	59466899	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00300074248443133	0.208
18	57134131	G	T	18	59466899	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00436290318497609	0.182
18	57134132	A	C	18	59466900	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.389829562578537	0.508
18	57134132	A	G	18	59466900	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.07042528900964E-5	0.062
18	57134132	A	T	18	59466900	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.787094888722466	0.612
18	57134133	A	C	18	59466901	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.941874951560786	0.814
18	57134133	A	G	18	59466901	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0228217089530404	0.254
18	57134133	A	T	18	59466901	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.984894354153117	0.806
18	57134134	C	A	18	59466902	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0257392315317103	0.272
18	57134134	C	G	18	59466902	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00364403549258334	0.198
18	57134134	C	T	18	59466902	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0237975126678815	0.072
18	57134135	C	A	18	59466903	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.67852561620101E-4	0.154
18	57134135	C	G	18	59466903	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.15111274951339E-4	0.146
18	57134135	C	T	18	59466903	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.996267468546852	0.88
18	57136697	C	A	18	59469465	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.22656665385972E-5	0.006
18	57136697	C	G	18	59469465	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.33044645464315E-5	0.006
18	57136697	C	T	18	59469465	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.5151475474873E-5	0.0
18	57136698	A	C	18	59469466	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.50357335416816E-5	0.0
18	57136698	A	G	18	59469466	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.50357335416816E-5	0.0
18	57136698	A	T	18	59469466	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.50357335416816E-5	0.0
18	57136699	A	C	18	59469467	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.984183317585614	0.84
18	57136699	A	G	18	59469467	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.92162176479336	0.794
18	57136699	A	T	18	59469467	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.998104175107143	0.768
18	57136700	C	A	18	59469468	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999931527324751	0.958
18	57136700	C	G	18	59469468	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999950876556879	0.988
18	57136700	C	T	18	59469468	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999950876556879	0.982
18	57136701	A	C	18	59469469	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.54053526437806E-6	0.026
18	57136701	A	G	18	59469469	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.1279388170952E-5	0.064
18	57136701	A	T	18	59469469	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	7.74059890412956E-5	0.012
18	57136702	C	A	18	59469470	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.902500908366032	0.536
18	57136702	C	G	18	59469470	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.85208269157101	0.622
18	57136702	C	T	18	59469470	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.33835559648429E-5	0.068
18	57136703	A	C	18	59469471	y	y	splicing	CCBE1(NM_133459:exon5:c.400+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.400+2T>G)	.	.	0.999954785339841	0.908
18	57136703	A	G	18	59469471	y	y	splicing	CCBE1(NM_133459:exon5:c.400+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.400+2T>C)	.	.	0.99950478758984	0.836
18	57136703	A	T	18	59469471	y	y	splicing	CCBE1(NM_133459:exon5:c.400+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.400+2T>A)	.	.	0.999982478186117	0.912
18	57136704	C	A	18	59469472	y	y	splicing	CCBE1(NM_133459:exon5:c.400+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.400+1G>T)	.	.	0.999988991791854	0.916
18	57136704	C	G	18	59469472	y	y	splicing	CCBE1(NM_133459:exon5:c.400+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.400+1G>C)	.	.	0.999988991791854	0.916
18	57136704	C	T	18	59469472	y	y	splicing	CCBE1(NM_133459:exon5:c.400+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.400+1G>A)	.	.	0.999988991791854	0.916
18	57136705	C	A	18	59469473	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.G400T:p.D134Y;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.G400T:p.D134Y;	0.99998681274784	1.0
18	57136705	C	G	18	59469473	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.G400C:p.D134H;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.G400C:p.D134H;	0.999997022955336	0.998
18	57136705	C	T	18	59469473	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.G400A:p.D134N;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.G400A:p.D134N;	0.999996974830345	0.998
18	57136706	C	A	18	59469474	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon4:c.G399T:p.L133L;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.G399T:p.L133L;	2.77298480658371E-4	0.012
18	57136706	C	G	18	59469474	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon4:c.G399C:p.L133L;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.G399C:p.L133L;	0.0020433365466942	0.132
18	57136706	C	T	18	59469474	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon4:c.G399A:p.L133L;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.G399A:p.L133L;	0.00131579941277701	0.146
18	57136707	A	C	18	59469475	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.T398G:p.L133R;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.T398G:p.L133R;	0.441909269715028	0.466
18	57136707	A	G	18	59469475	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.T398C:p.L133P;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.T398C:p.L133P;	0.61479231533074	0.544
18	57136707	A	T	18	59469475	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.T398A:p.L133Q;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.T398A:p.L133Q;	0.709940147051301	0.628
18	57136838	A	C	18	59469606	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.T267G:p.D89E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.T267G:p.D89E;	7.70637556977859E-4	0.004
18	57136838	A	G	18	59469606	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon4:c.T267C:p.D89D;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.T267C:p.D89D;	1.09218782187533E-4	0.008
18	57136838	A	T	18	59469606	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.T267A:p.D89E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.T267A:p.D89E;	7.15401944789227E-4	0.008
18	57136839	T	A	18	59469607	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.A266T:p.D89V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.A266T:p.D89V;	0.112225098540023	0.46
18	57136839	T	C	18	59469607	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.A266G:p.D89G;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.A266G:p.D89G;	0.592652144855553	0.606
18	57136839	T	G	18	59469607	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon4:c.A266C:p.D89A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon4:c.A266C:p.D89A;	0.138524761181012	0.474
18	57136840	C	A	18	59469608	y	y	splicing	CCBE1(NM_133459:exon5:c.266-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.266-1G>T)	.	.	0.99993314117114	0.948
18	57136840	C	G	18	59469608	y	y	splicing	CCBE1(NM_133459:exon5:c.266-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.266-1G>C)	.	.	0.99993314117114	0.948
18	57136840	C	T	18	59469608	y	y	splicing	CCBE1(NM_133459:exon5:c.266-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.266-1G>A)	.	.	0.99993314117114	0.944
18	57136841	T	A	18	59469609	y	y	splicing	CCBE1(NM_133459:exon5:c.266-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.266-2A>T)	.	.	0.99994568797423	0.946
18	57136841	T	C	18	59469609	y	y	splicing	CCBE1(NM_133459:exon5:c.266-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.266-2A>G)	.	.	0.999946188727699	0.944
18	57136841	T	G	18	59469609	y	y	splicing	CCBE1(NM_133459:exon5:c.266-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon5:c.266-2A>C)	.	.	0.999946188727699	0.942
18	57136842	G	A	18	59469610	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00718661277390341	0.28
18	57136842	G	C	18	59469610	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.997186847111218	0.97
18	57136842	G	T	18	59469610	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.195308439581143	0.442
18	57136843	A	C	18	59469611	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.36871900103319E-5	0.0
18	57136843	A	G	18	59469611	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.83183363993428E-5	0.024
18	57136843	A	T	18	59469611	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.51656762427017E-5	0.024
18	57136844	A	C	18	59469612	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00727743587994355	0.27
18	57136844	A	G	18	59469612	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00124199352495776	0.018
18	57136844	A	T	18	59469612	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00629218129261845	0.268
18	57136845	A	C	18	59469613	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0099233930011505	0.2
18	57136845	A	G	18	59469613	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00112921622531995	0.06
18	57136845	A	T	18	59469613	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0124152526629564	0.182
18	57136846	A	C	18	59469614	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.06949495656805E-4	0.09
18	57136846	A	G	18	59469614	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.96449430303238E-5	0.0
18	57136846	A	T	18	59469614	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00118304333185609	0.094
18	57136847	A	C	18	59469615	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00642584141482811	0.09
18	57136847	A	G	18	59469615	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.46867840982617E-4	0.006
18	57136847	A	T	18	59469615	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00713867904463183	0.172
18	57136848	G	A	18	59469616	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	7.51365840180596E-4	0.11
18	57136848	G	C	18	59469616	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0119659858736149	0.22
18	57136848	G	T	18	59469616	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0102896153413831	0.198
18	57136849	C	A	18	59469617	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.15338190935731E-5	0.0
18	57136849	C	G	18	59469617	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.1955504787733E-5	0.034
18	57136849	C	T	18	59469617	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.50307862757342E-4	0.026
18	57136850	A	C	18	59469618	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.18773738050643E-4	0.06
18	57136850	A	G	18	59469618	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.87568458606066E-5	0.018
18	57136850	A	T	18	59469618	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.998173456645351	0.882
18	57136851	A	C	18	59469619	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00112738486636754	0.12
18	57136851	A	G	18	59469619	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.67115631791609E-4	0.028
18	57136851	A	T	18	59469619	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.43689795770253E-4	0.114
18	57147410	T	A	18	59480178	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.16477361302473E-4	0.02
18	57147410	T	C	18	59480178	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.05356074481699E-4	0.014
18	57147410	T	G	18	59480178	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.38615858088338E-4	0.022
18	57147411	T	A	18	59480179	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.17815906299571E-5	0.0
18	57147411	T	C	18	59480179	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.01169111720026E-4	0.006
18	57147411	T	G	18	59480179	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.46226529156369E-4	0.004
18	57147412	A	C	18	59480180	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.411399179764758	0.378
18	57147412	A	G	18	59480180	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.439615610813504	0.402
18	57147412	A	T	18	59480180	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.791291824317276	0.522
18	57147413	C	A	18	59480181	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.995249278497098	0.752
18	57147413	C	G	18	59480181	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.995603287958724	0.766
18	57147413	C	T	18	59480181	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.995050704201521	0.682
18	57147414	A	C	18	59480182	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.95552849232839E-5	0.004
18	57147414	A	G	18	59480182	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	2.6357146992362E-4	0.026
18	57147414	A	T	18	59480182	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.23367327010297E-5	0.022
18	57147415	T	A	18	59480183	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999716508170339	0.89
18	57147415	T	C	18	59480183	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.989103140859897	0.826
18	57147415	T	G	18	59480183	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999287837199296	0.814
18	57147416	A	C	18	59480184	y	y	splicing	CCBE1(NM_133459:exon4:c.265+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.265+2T>G)	.	.	0.999988247793601	0.926
18	57147416	A	G	18	59480184	y	y	splicing	CCBE1(NM_133459:exon4:c.265+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.265+2T>C)	.	.	0.988163425542712	0.63
18	57147416	A	T	18	59480184	y	y	splicing	CCBE1(NM_133459:exon4:c.265+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.265+2T>A)	.	.	0.999988247793601	0.926
18	57147417	C	A	18	59480185	y	y	splicing	CCBE1(NM_133459:exon4:c.265+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.265+1G>T)	.	.	0.999985532734767	0.934
18	57147417	C	G	18	59480185	y	y	splicing	CCBE1(NM_133459:exon4:c.265+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.265+1G>C)	.	.	0.999985532734767	0.934
18	57147417	C	T	18	59480185	y	y	splicing	CCBE1(NM_133459:exon4:c.265+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.265+1G>A)	.	.	0.999985532734767	0.934
18	57147418	C	A	18	59480186	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.G265T:p.D89Y;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.G265T:p.D89Y;	0.999170241318587	0.972
18	57147418	C	G	18	59480186	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.G265C:p.D89H;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.G265C:p.D89H;	0.999942124323801	0.974
18	57147418	C	T	18	59480186	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.G265A:p.D89N;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.G265A:p.D89N;	0.999823655018905	0.952
18	57147419	T	A	18	59480187	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.A264T:p.E88D;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.A264T:p.E88D;	0.998400479688042	0.966
18	57147419	T	C	18	59480187	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon3:c.A264G:p.E88E;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.A264G:p.E88E;	0.992959241322534	0.96
18	57147419	T	G	18	59480187	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.A264C:p.E88D;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.A264C:p.E88D;	0.994586414896062	0.954
18	57147420	T	A	18	59480188	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.A263T:p.E88V;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.A263T:p.E88V;	0.955032650827802	0.586
18	57147420	T	C	18	59480188	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.A263G:p.E88G;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.A263G:p.E88G;	0.235337225745909	0.378
18	57147420	T	G	18	59480188	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.A263C:p.E88A;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.A263C:p.E88A;	0.0603322674190994	0.332
18	57147469	T	A	18	59480237	y	y	exonic	CCBE1	stopgain SNV	CCBE1:NM_133459:exon3:c.A214T:p.K72X;	exonic	ENSG00000183287	stopgain SNV	ENSG00000183287:ENST00000439986:exon3:c.A214T:p.K72X;	0.0634835952391429	0.41
18	57147469	T	C	18	59480237	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.A214G:p.K72E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.A214G:p.K72E;	0.00980057180982689	0.052
18	57147469	T	G	18	59480237	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.A214C:p.K72Q;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.A214C:p.K72Q;	0.0287346687197687	0.08
18	57147470	C	A	18	59480238	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.G213T:p.R71S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.G213T:p.R71S;	0.999724036401907	0.99
18	57147470	C	G	18	59480238	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon3:c.G213C:p.R71S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.G213C:p.R71S;	0.999440196768546	0.948
18	57147470	C	T	18	59480238	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon3:c.G213A:p.R71R;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon3:c.G213A:p.R71R;	0.999554513025655	0.85
18	57147471	C	A	18	59480239	y	y	splicing	CCBE1(NM_133459:exon4:c.213-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.213-1G>T)	.	.	0.999985532734767	0.936
18	57147471	C	G	18	59480239	y	y	splicing	CCBE1(NM_133459:exon4:c.213-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.213-1G>C)	.	.	0.999985532734767	0.936
18	57147471	C	T	18	59480239	y	y	splicing	CCBE1(NM_133459:exon4:c.213-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.213-1G>A)	.	.	0.999985532734767	0.936
18	57147472	T	A	18	59480240	y	y	splicing	CCBE1(NM_133459:exon4:c.213-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.213-2A>T)	.	.	0.999988247793601	0.926
18	57147472	T	C	18	59480240	y	y	splicing	CCBE1(NM_133459:exon4:c.213-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.213-2A>G)	.	.	0.999978952611685	0.928
18	57147472	T	G	18	59480240	y	y	splicing	CCBE1(NM_133459:exon4:c.213-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon4:c.213-2A>C)	.	.	0.999978952611685	0.928
18	57147473	A	C	18	59480241	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999757219945214	0.89
18	57147473	A	G	18	59480241	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.84345699843378E-4	0.018
18	57147473	A	T	18	59480241	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.446737647207642	0.42
18	57147474	A	C	18	59480242	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.60836034322975E-4	0.004
18	57147474	A	G	18	59480242	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.52240386394037E-4	0.0
18	57147474	A	T	18	59480242	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00202085564845138	0.004
18	57147475	G	A	18	59480243	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	4.05071323879654E-5	0.016
18	57147475	G	C	18	59480243	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00719758206961406	0.116
18	57147475	G	T	18	59480243	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00361163652561658	0.074
18	57147476	A	C	18	59480244	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.967525795831069	0.884
18	57147476	A	G	18	59480244	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	3.71076187783829E-4	0.066
18	57147476	A	T	18	59480244	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.949613492555632	0.802
18	57147477	G	A	18	59480245	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.76425764781612E-4	0.002
18	57147477	G	C	18	59480245	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.76008274501478E-4	0.07
18	57147477	G	T	18	59480245	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.72216830502578E-4	0.074
18	57147478	A	C	18	59480246	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0169883199465213	0.188
18	57147478	A	G	18	59480246	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	8.55427055574352E-5	0.034
18	57147478	A	T	18	59480246	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.177939702416213	0.342
18	57147479	C	A	18	59480247	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0183188816248078	0.234
18	57147479	C	G	18	59480247	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.0100680288384056	0.164
18	57147479	C	T	18	59480247	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.095837920737331	0.236
18	57147480	A	C	18	59480248	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.997263330329616	0.822
18	57147480	A	G	18	59480248	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.196390531124273	0.426
18	57147480	A	T	18	59480248	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.99998052620894	0.952
18	57147481	A	C	18	59480249	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.999018528952009	0.866
18	57147481	A	G	18	59480249	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.95660499340342	0.54
18	57147481	A	T	18	59480249	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.99932637165069	0.948
18	57147482	A	C	18	59480250	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.777907823292641	0.628
18	57147482	A	G	18	59480250	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.00366748375924296	0.124
18	57147482	A	T	18	59480250	y	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	0.874072895169005	0.7
18	57333300	G	A	18	59666068	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.57123356397867E-5	0.012
18	57333300	G	C	18	59666068	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333300	G	T	18	59666068	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333301	G	A	18	59666069	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.57123356397867E-5	0.012
18	57333301	G	C	18	59666069	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333301	G	T	18	59666069	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333302	A	C	18	59666070	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333302	A	G	18	59666070	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333302	A	T	18	59666070	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.87125311119806E-5	0.112
18	57333303	C	A	18	59666071	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.57123356397867E-5	0.008
18	57333303	C	G	18	59666071	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333303	C	T	18	59666071	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	1.99373255183416E-4	0.012
18	57333304	T	A	18	59666072	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	5.13847195961614E-5	0.016
18	57333304	T	C	18	59666072	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333304	T	G	18	59666072	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333305	T	A	18	59666073	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.87125311119806E-5	0.022
18	57333305	T	C	18	59666073	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333305	T	G	18	59666073	n	y	intronic	CCBE1	.	.	intronic	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333306	A	C	18	59666074	n	y	intronic	CCBE1	.	.	splicing	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333306	A	G	18	59666074	n	y	intronic	CCBE1	.	.	splicing	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333306	A	T	18	59666074	n	y	intronic	CCBE1	.	.	splicing	ENSG00000183287	.	.	6.87125311119806E-5	0.112
18	57333307	C	A	18	59666075	n	y	intronic	CCBE1	.	.	splicing	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333307	C	G	18	59666075	n	y	intronic	CCBE1	.	.	splicing	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333307	C	T	18	59666075	n	y	intronic	CCBE1	.	.	splicing	ENSG00000183287	.	.	9.57123356397867E-5	0.012
18	57333308	A	C	18	59666076	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333308	A	G	18	59666076	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333308	A	T	18	59666076	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	6.87125311119806E-5	0.016
18	57333309	G	A	18	59666077	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	9.57123356397867E-5	0.008
18	57333309	G	C	18	59666077	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333309	G	T	18	59666077	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	9.57123356397867E-5	0.01
18	57333310	T	A	18	59666078	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	6.87125311119806E-5	0.012
18	57333310	T	C	18	59666078	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	6.87125311119806E-5	0.01
18	57333310	T	G	18	59666078	n	y	intronic	CCBE1	.	.	UTR5	ENSG00000183287	.	.	6.87125311119806E-5	0.012
18	57363853	A	C	18	59696621	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	2.22284628794593E-4	0.004
18	57363853	A	G	18	59696621	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	2.22284628794593E-4	0.01
18	57363853	A	T	18	59696621	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	1.69126630192117E-4	0.006
18	57363854	G	A	18	59696622	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	7.1275637256231E-4	0.056
18	57363854	G	C	18	59696622	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	3.63682344705617E-4	0.0
18	57363854	G	T	18	59696622	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	7.1275637256231E-4	0.052
18	57363855	G	A	18	59696623	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	5.04417047191226E-5	0.0
18	57363855	G	C	18	59696623	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	1.38450734697826E-4	0.026
18	57363855	G	T	18	59696623	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	5.83394149437444E-5	0.012
18	57363856	C	A	18	59696624	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.988718186509902	0.754
18	57363856	C	G	18	59696624	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.964166401261449	0.836
18	57363856	C	T	18	59696624	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.995030782969636	0.842
18	57363857	T	A	18	59696625	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.992090973729531	0.834
18	57363857	T	C	18	59696625	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.988265890564205	0.856
18	57363857	T	G	18	59696625	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.986674279537408	0.826
18	57363858	T	A	18	59696626	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.982765412644436	0.726
18	57363858	T	C	18	59696626	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.064274664723796	0.176
18	57363858	T	G	18	59696626	y	n	intronic	CCBE1	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.995633869786076	0.74
18	57363859	A	C	18	59696627	y	n	splicing	CCBE1(NM_133459:exon3:c.212+2T>G)	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.999992446697775	0.932
18	57363859	A	G	18	59696627	y	n	splicing	CCBE1(NM_133459:exon3:c.212+2T>C)	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.993808943985639	0.664
18	57363859	A	T	18	59696627	y	n	splicing	CCBE1(NM_133459:exon3:c.212+2T>A)	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.999992446697775	0.932
18	57363860	C	A	18	59696628	y	n	splicing	CCBE1(NM_133459:exon3:c.212+1G>T)	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.999990361384395	0.928
18	57363860	C	G	18	59696628	y	n	splicing	CCBE1(NM_133459:exon3:c.212+1G>C)	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.999990361384395	0.928
18	57363860	C	T	18	59696628	y	n	splicing	CCBE1(NM_133459:exon3:c.212+1G>A)	.	.	ncRNA_exonic	ENSG00000267774	.	.	0.999990361384395	0.928
18	57363861	C	A	18	59696629	y	n	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.G212T:p.R71M;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.G212T:p.R71M;	0.99777450973461	0.926
18	57363861	C	G	18	59696629	y	n	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.G212C:p.R71T;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.G212C:p.R71T;	0.998022068988528	0.894
18	57363861	C	T	18	59696629	y	n	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.G212A:p.R71K;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.G212A:p.R71K;	0.985051183837323	0.83
18	57363862	T	A	18	59696630	y	n	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.A211T:p.R71W;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.A211T:p.R71W;	0.990207982674527	0.544
18	57363862	T	C	18	59696630	y	n	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.A211G:p.R71G;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.A211G:p.R71G;	0.997079209668299	0.914
18	57363862	T	G	18	59696630	y	n	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon2:c.A211C:p.R71R;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.A211C:p.R71R;	0.9956799723385	0.8
18	57363863	G	A	18	59696631	y	n	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon2:c.C210T:p.Y70Y;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.C210T:p.Y70Y;	0.996621901727937	0.568
18	57363863	G	C	18	59696631	y	n	exonic	CCBE1	stopgain SNV	CCBE1:NM_133459:exon2:c.C210G:p.Y70X;	exonic	ENSG00000183287	stopgain SNV	ENSG00000183287:ENST00000439986:exon2:c.C210G:p.Y70X;	0.923200936384211	0.598
18	57363863	G	T	18	59696631	y	n	exonic	CCBE1	stopgain SNV	CCBE1:NM_133459:exon2:c.C210A:p.Y70X;	exonic	ENSG00000183287	stopgain SNV	ENSG00000183287:ENST00000439986:exon2:c.C210A:p.Y70X;	0.948473269254734	0.788
18	57363940	C	A	18	59696708	y	y	exonic	CCBE1	stopgain SNV	CCBE1:NM_133459:exon2:c.G133T:p.E45X;	exonic	ENSG00000183287	stopgain SNV	ENSG00000183287:ENST00000439986:exon2:c.G133T:p.E45X;	0.978788336923074	0.828
18	57363940	C	G	18	59696708	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.G133C:p.E45Q;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.G133C:p.E45Q;	0.974615603256929	0.636
18	57363940	C	T	18	59696708	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.G133A:p.E45K;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.G133A:p.E45K;	0.986434131223215	0.674
18	57363941	T	A	18	59696709	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.A132T:p.R44S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.A132T:p.R44S;	2.9200075831677E-4	0.146
18	57363941	T	C	18	59696709	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon2:c.A132G:p.R44R;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.A132G:p.R44R;	2.02546027301603E-4	0.008
18	57363941	T	G	18	59696709	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon2:c.A132C:p.R44S;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon2:c.A132C:p.R44S;	6.59799411079518E-4	0.132
18	57363942	C	A	18	59696710	y	y	splicing	CCBE1(NM_133459:exon3:c.132-1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon3:c.132-1G>T)	.	.	0.999964896440643	0.93
18	57363942	C	G	18	59696710	y	y	splicing	CCBE1(NM_133459:exon3:c.132-1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon3:c.132-1G>C)	.	.	0.999964896440643	0.928
18	57363942	C	T	18	59696710	y	y	splicing	CCBE1(NM_133459:exon3:c.132-1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon3:c.132-1G>A)	.	.	0.999946188727699	0.932
18	57363943	T	A	18	59696711	y	y	splicing	CCBE1(NM_133459:exon3:c.132-2A>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon3:c.132-2A>T)	.	.	0.999981535500952	0.93
18	57363943	T	C	18	59696711	y	y	splicing	CCBE1(NM_133459:exon3:c.132-2A>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon3:c.132-2A>G)	.	.	0.99998491298609	0.89
18	57363943	T	G	18	59696711	y	y	splicing	CCBE1(NM_133459:exon3:c.132-2A>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon3:c.132-2A>C)	.	.	0.999974729200583	0.888
18	57363944	A	C	18	59696712	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.984202268995357	0.684
18	57363944	A	G	18	59696712	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	5.90596055941244E-5	0.016
18	57363944	A	T	18	59696712	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.018408181429296	0.33
18	57363945	T	A	18	59696713	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	1.9346498746847E-4	0.0
18	57363945	T	C	18	59696713	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	1.46893662694057E-4	0.0
18	57363945	T	G	18	59696713	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	4.21290712306068E-5	0.0
18	57363946	G	A	18	59696714	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	1.59551896709084E-5	0.0
18	57363946	G	C	18	59696714	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0027655851645939	0.056
18	57363946	G	T	18	59696714	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	2.14170128578988E-4	0.014
18	57363947	A	C	18	59696715	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0114888643822121	0.082
18	57363947	A	G	18	59696715	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	1.41865126042208E-5	0.03
18	57363947	A	T	18	59696715	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.00283299841550379	0.094
18	57363948	A	C	18	59696716	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0528753443963517	0.098
18	57363948	A	G	18	59696716	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	3.16976508812207E-5	0.026
18	57363948	A	T	18	59696716	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0264250294549104	0.136
18	57363949	A	C	18	59696717	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.647710289648518	0.496
18	57363949	A	G	18	59696717	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0131554514330301	0.098
18	57363949	A	T	18	59696717	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.806976764636965	0.666
18	57363950	A	C	18	59696718	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.058232905316041	0.404
18	57363950	A	G	18	59696718	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	1.94829466425052E-4	0.006
18	57363950	A	T	18	59696718	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0856835983692292	0.404
18	57363951	A	C	18	59696719	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.010841768634914	0.322
18	57363951	A	G	18	59696719	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	6.69159881147021E-5	0.02
18	57363951	A	T	18	59696719	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0439868564267716	0.35
18	57363952	G	A	18	59696720	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	4.41453154236282E-4	0.002
18	57363952	G	C	18	59696720	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.999812822198456	0.98
18	57363952	G	T	18	59696720	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.00738942593302899	0.07
18	57363953	T	A	18	59696721	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	5.23608452679008E-5	0.0
18	57363953	T	C	18	59696721	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	4.48935924967052E-5	0.016
18	57363953	T	G	18	59696721	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	4.89831657609552E-5	0.014
18	57364436	G	A	18	59697204	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	5.38084532720097E-5	0.012
18	57364436	G	C	18	59697204	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	6.75988222790218E-5	0.006
18	57364436	G	T	18	59697204	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	6.75988222790218E-5	0.012
18	57364437	C	A	18	59697205	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	8.91285852394238E-4	0.02
18	57364437	C	G	18	59697205	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.00159768776626643	0.022
18	57364437	C	T	18	59697205	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	8.91285852394238E-4	0.024
18	57364438	G	A	18	59697206	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	5.70232487587309E-5	0.006
18	57364438	G	C	18	59697206	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	1.49937783046503E-4	0.026
18	57364438	G	T	18	59697206	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	7.461841036533E-5	0.0
18	57364439	C	A	18	59697207	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.868490346088775	0.57
18	57364439	C	G	18	59697207	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.554319783023695	0.55
18	57364439	C	T	18	59697207	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.577554121612194	0.61
18	57364440	T	A	18	59697208	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0152776276078926	0.272
18	57364440	T	C	18	59697208	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0327908816909226	0.296
18	57364440	T	G	18	59697208	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0200129320381925	0.282
18	57364441	T	A	18	59697209	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.965649672800879	0.628
18	57364441	T	C	18	59697209	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.0012656339754592	0.114
18	57364441	T	G	18	59697209	y	y	intronic	CCBE1	.	.	ncRNA_intronic	ENSG00000267774	.	.	0.836779838994221	0.614
18	57364442	A	C	18	59697210	y	y	splicing	CCBE1(NM_133459:exon2:c.131+2T>G)	.	.	splicing	ENSG00000183287(ENST00000439986:exon2:c.131+2T>G)	.	.	0.999265561801896	0.608
18	57364442	A	G	18	59697210	y	y	splicing	CCBE1(NM_133459:exon2:c.131+2T>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon2:c.131+2T>C)	.	.	0.626113709711132	0.448
18	57364442	A	T	18	59697210	y	y	splicing	CCBE1(NM_133459:exon2:c.131+2T>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon2:c.131+2T>A)	.	.	0.999265561801896	0.614
18	57364443	C	A	18	59697211	y	y	splicing	CCBE1(NM_133459:exon2:c.131+1G>T)	.	.	splicing	ENSG00000183287(ENST00000439986:exon2:c.131+1G>T)	.	.	0.999958003653399	0.816
18	57364443	C	G	18	59697211	y	y	splicing	CCBE1(NM_133459:exon2:c.131+1G>C)	.	.	splicing	ENSG00000183287(ENST00000439986:exon2:c.131+1G>C)	.	.	0.999958003653399	0.808
18	57364443	C	T	18	59697211	y	y	splicing	CCBE1(NM_133459:exon2:c.131+1G>A)	.	.	splicing	ENSG00000183287(ENST00000439986:exon2:c.131+1G>A)	.	.	0.999958003653399	0.812
18	57364444	C	A	18	59697212	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon1:c.G131T:p.R44I;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon1:c.G131T:p.R44I;	0.999693180797578	0.966
18	57364444	C	G	18	59697212	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon1:c.G131C:p.R44T;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon1:c.G131C:p.R44T;	0.999718868661114	0.938
18	57364444	C	T	18	59697212	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon1:c.G131A:p.R44K;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon1:c.G131A:p.R44K;	0.998970907018978	0.878
18	57364445	T	A	18	59697213	y	y	exonic	CCBE1	stopgain SNV	CCBE1:NM_133459:exon1:c.A130T:p.R44X;	exonic	ENSG00000183287	stopgain SNV	ENSG00000183287:ENST00000439986:exon1:c.A130T:p.R44X;	0.993004413183441	0.574
18	57364445	T	C	18	59697213	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon1:c.A130G:p.R44G;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon1:c.A130G:p.R44G;	0.836683748540552	0.532
18	57364445	T	G	18	59697213	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon1:c.A130C:p.R44R;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon1:c.A130C:p.R44R;	0.574455055245135	0.488
18	57364446	G	A	18	59697214	y	y	exonic	CCBE1	synonymous SNV	CCBE1:NM_133459:exon1:c.C129T:p.D43D;	exonic	ENSG00000183287	synonymous SNV	ENSG00000183287:ENST00000439986:exon1:c.C129T:p.D43D;	9.85957336388623E-4	0.04
18	57364446	G	C	18	59697214	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon1:c.C129G:p.D43E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon1:c.C129G:p.D43E;	3.73535425959253E-4	0.046
18	57364446	G	T	18	59697214	y	y	exonic	CCBE1	nonsynonymous SNV	CCBE1:NM_133459:exon1:c.C129A:p.D43E;	exonic	ENSG00000183287	nonsynonymous SNV	ENSG00000183287:ENST00000439986:exon1:c.C129A:p.D43E;	1.68387629335942E-4	0.04
18	57567465	C	A	18	59900233	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon1:c.C56A:p.A19E;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon1:c.C56A:p.A19E;ENSG00000141682:ENST00000269518:exon1:c.C56A:p.A19E;	7.75888596294193E-4	0.036
18	57567465	C	G	18	59900233	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon1:c.C56G:p.A19G;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon1:c.C56G:p.A19G;ENSG00000141682:ENST00000269518:exon1:c.C56G:p.A19G;	0.00565255342245083	0.162
18	57567465	C	T	18	59900233	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon1:c.C56T:p.A19V;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon1:c.C56T:p.A19V;ENSG00000141682:ENST00000269518:exon1:c.C56T:p.A19V;	0.692289748417061	0.646
18	57567466	A	C	18	59900234	y	y	exonic	PMAIP1	synonymous SNV	PMAIP1:NM_021127:exon1:c.A57C:p.A19A;	exonic	ENSG00000141682	synonymous SNV	ENSG00000141682:ENST00000316660:exon1:c.A57C:p.A19A;ENSG00000141682:ENST00000269518:exon1:c.A57C:p.A19A;	0.999214131177818	0.964
18	57567466	A	G	18	59900234	y	y	exonic	PMAIP1	synonymous SNV	PMAIP1:NM_021127:exon1:c.A57G:p.A19A;	exonic	ENSG00000141682	synonymous SNV	ENSG00000141682:ENST00000316660:exon1:c.A57G:p.A19A;ENSG00000141682:ENST00000269518:exon1:c.A57G:p.A19A;	0.999453160079356	0.98
18	57567466	A	T	18	59900234	y	y	exonic	PMAIP1	synonymous SNV	PMAIP1:NM_021127:exon1:c.A57T:p.A19A;	exonic	ENSG00000141682	synonymous SNV	ENSG00000141682:ENST00000316660:exon1:c.A57T:p.A19A;ENSG00000141682:ENST00000269518:exon1:c.A57T:p.A19A;	0.999394909399098	0.982
18	57567467	G	A	18	59900235	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon1:c.G58A:p.E20K;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon1:c.G58A:p.E20K;ENSG00000141682:ENST00000269518:exon1:c.G58A:p.G20R;	0.999991179377608	0.984
18	57567467	G	C	18	59900235	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon1:c.G58C:p.E20Q;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon1:c.G58C:p.E20Q;ENSG00000141682:ENST00000269518:exon1:c.G58C:p.G20R;	0.999993174623697	0.99
18	57567467	G	T	18	59900235	y	y	exonic	PMAIP1	stopgain SNV	PMAIP1:NM_021127:exon1:c.G58T:p.E20X;	exonic	ENSG00000141682	stopgain SNV	ENSG00000141682:ENST00000316660:exon1:c.G58T:p.E20X;ENSG00000141682:ENST00000269518:exon1:c.G58T:p.G20X;	0.999991526267397	0.896
18	57567468	G	A	18	59900236	y	y	splicing	PMAIP1(NM_021127:exon1:c.58+1G>A)	.	.	splicing	ENSG00000141682(ENST00000316660:exon1:c.58+1G>A;ENST00000269518:exon1:c.58+1G>A)	.	.	0.999988247793601	0.926
18	57567468	G	C	18	59900236	y	y	splicing	PMAIP1(NM_021127:exon1:c.58+1G>C)	.	.	splicing	ENSG00000141682(ENST00000316660:exon1:c.58+1G>C;ENST00000269518:exon1:c.58+1G>C)	.	.	0.999978952611685	0.926
18	57567468	G	T	18	59900236	y	y	splicing	PMAIP1(NM_021127:exon1:c.58+1G>T)	.	.	splicing	ENSG00000141682(ENST00000316660:exon1:c.58+1G>T;ENST00000269518:exon1:c.58+1G>T)	.	.	0.999978952611685	0.928
18	57567469	T	A	18	59900237	y	y	splicing	PMAIP1(NM_021127:exon1:c.58+2T>A)	.	.	splicing	ENSG00000141682(ENST00000316660:exon1:c.58+2T>A;ENST00000269518:exon1:c.58+2T>A)	.	.	0.999993672935256	0.926
18	57567469	T	C	18	59900237	y	y	splicing	PMAIP1(NM_021127:exon1:c.58+2T>C)	.	.	splicing	ENSG00000141682(ENST00000316660:exon1:c.58+2T>C;ENST00000269518:exon1:c.58+2T>C)	.	.	0.985578953178546	0.588
18	57567469	T	G	18	59900237	y	y	splicing	PMAIP1(NM_021127:exon1:c.58+2T>G)	.	.	splicing	ENSG00000141682(ENST00000316660:exon1:c.58+2T>G;ENST00000269518:exon1:c.58+2T>G)	.	.	0.999991781128047	0.928
18	57567470	A	C	18	59900238	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.999922407831144	0.952
18	57567470	A	G	18	59900238	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.972985238088344	0.89
18	57567470	A	T	18	59900238	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.999960689670742	0.978
18	57567471	C	A	18	59900239	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.05838403644355E-4	0.06
18	57567471	C	G	18	59900239	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.02518584956561E-4	0.076
18	57567471	C	T	18	59900239	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.98428440591213E-4	0.036
18	57567472	C	A	18	59900240	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.28010318775187E-4	0.016
18	57567472	C	G	18	59900240	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.91367725781748E-5	0.024
18	57567472	C	T	18	59900240	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	7.05334574903497E-4	0.006
18	57567473	G	A	18	59900241	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	8.4234341378038E-4	0.064
18	57567473	G	C	18	59900241	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.85515633319034E-4	0.1
18	57567473	G	T	18	59900241	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.06395819638843E-4	0.056
18	57567474	A	C	18	59900242	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.81118663119521E-4	0.0
18	57567474	A	G	18	59900242	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.04962636660512E-4	0.0
18	57567474	A	T	18	59900242	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.48557690501138E-4	0.0
18	57567475	C	A	18	59900243	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.00147650871751404	0.092
18	57567475	C	G	18	59900243	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.78539246029599E-4	0.002
18	57567475	C	T	18	59900243	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.55740242029226E-4	0.076
18	57567648	G	A	18	59900416	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	8.20576206096585E-5	0.002
18	57567648	G	C	18	59900416	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.01212398005583E-5	0.0
18	57567648	G	T	18	59900416	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.83207216097928E-5	0.0
18	57567649	T	A	18	59900417	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.98784870003065E-4	0.004
18	57567649	T	C	18	59900417	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.41795582985821E-4	0.004
18	57567649	T	G	18	59900417	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.41795582985821E-4	0.004
18	57567650	T	A	18	59900418	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.21649339220785E-5	0.0
18	57567650	T	C	18	59900418	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.21649339220785E-5	0.0
18	57567650	T	G	18	59900418	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.21649339220785E-5	0.0
18	57567651	T	A	18	59900419	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.51355887585099E-4	0.002
18	57567651	T	C	18	59900419	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.7750410314527E-4	0.004
18	57567651	T	G	18	59900419	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.7750410314527E-4	0.02
18	57567652	T	A	18	59900420	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	7.08841829632718E-5	0.0
18	57567652	T	C	18	59900420	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.09184747739173E-5	0.0
18	57567652	T	G	18	59900420	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.09184747739173E-5	0.0
18	57567653	T	A	18	59900421	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.12869275217467E-5	0.0
18	57567653	T	C	18	59900421	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.12869275217467E-5	0.0
18	57567653	T	G	18	59900421	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.12869275217467E-5	0.0
18	57567654	C	A	18	59900422	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.69439264402225E-5	0.002
18	57567654	C	G	18	59900422	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.69439264402225E-5	0.002
18	57567654	C	T	18	59900422	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.69439264402225E-5	0.002
18	57567655	C	A	18	59900423	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	8.50861351865397E-5	0.0
18	57567655	C	G	18	59900423	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.68140984436469E-5	0.0
18	57567655	C	T	18	59900423	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	8.50861351865397E-5	0.0
18	57567656	C	A	18	59900424	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	3.12051756480288E-5	0.002
18	57567656	C	G	18	59900424	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	3.12051756480288E-5	0.002
18	57567656	C	T	18	59900424	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	3.12051756480288E-5	0.002
18	57567657	C	A	18	59900425	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	9.11159464097565E-5	0.002
18	57567657	C	G	18	59900425	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	7.04117750344502E-5	0.002
18	57567657	C	T	18	59900425	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	9.11159464097565E-5	0.002
18	57567658	A	C	18	59900426	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.59-2A>C)	.	.	6.83891202920338E-5	0.0
18	57567658	A	G	18	59900426	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.59-2A>G)	.	.	6.83891202920338E-5	0.0
18	57567658	A	T	18	59900426	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.59-2A>T)	.	.	6.83891202920338E-5	0.0
18	57567659	G	A	18	59900427	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.59-1G>A)	.	.	9.11159464097565E-5	0.002
18	57567659	G	C	18	59900427	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.59-1G>C)	.	.	4.51786553896217E-5	0.002
18	57567659	G	T	18	59900427	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.59-1G>T)	.	.	9.11159464097565E-5	0.002
18	57567660	G	A	18	59900428	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.G59A:p.G20E;	1.39036558682923E-4	0.048
18	57567660	G	C	18	59900428	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.G59C:p.G20A;	7.28726976308729E-5	0.052
18	57567660	G	T	18	59900428	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.G59T:p.G20V;	9.10557154321184E-5	0.052
18	57567661	A	C	18	59900429	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	synonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.A60C:p.G20G;	7.29649089108586E-5	0.002
18	57567661	A	G	18	59900429	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	synonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.A60G:p.G20G;	7.29649089108586E-5	0.0
18	57567661	A	T	18	59900429	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	synonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.A60T:p.G20G;	5.49490637206397E-5	0.0
18	57567808	A	C	18	59900576	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.A207C:p.Q69H;	1.4313300285874E-4	0.02
18	57567808	A	G	18	59900576	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	synonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.A207G:p.Q69Q;	5.16682635439002E-5	0.0
18	57567808	A	T	18	59900576	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.A207T:p.Q69H;	8.4156328805987E-5	0.018
18	57567809	G	A	18	59900577	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.G208A:p.V70I;	1.34109320648431E-4	0.004
18	57567809	G	C	18	59900577	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.G208C:p.V70L;	1.96095639936345E-4	0.018
18	57567809	G	T	18	59900577	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.G208T:p.V70L;	1.34109320648431E-4	0.024
18	57567810	T	A	18	59900578	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.T209A:p.V70E;	9.05214370486973E-5	0.006
18	57567810	T	C	18	59900578	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.T209C:p.V70A;	9.05214370486973E-5	0.07
18	57567810	T	G	18	59900578	n	y	intronic	PMAIP1	.	.	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon2:c.T209G:p.V70G;	5.94728994972511E-5	0.0
18	57567811	G	A	18	59900579	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.209+1G>A)	.	.	7.04278140930798E-5	0.038
18	57567811	G	C	18	59900579	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.209+1G>C)	.	.	7.04278140930798E-5	0.038
18	57567811	G	T	18	59900579	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.209+1G>T)	.	.	7.04278140930798E-5	0.038
18	57567812	T	A	18	59900580	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.209+2T>A)	.	.	5.69439264402225E-5	0.002
18	57567812	T	C	18	59900580	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.209+2T>C)	.	.	5.69439264402225E-5	0.002
18	57567812	T	G	18	59900580	n	y	intronic	PMAIP1	.	.	splicing	ENSG00000141682(ENST00000269518:exon2:c.209+2T>G)	.	.	5.69439264402225E-5	0.002
18	57567813	A	C	18	59900581	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.12581597765867E-4	0.0
18	57567813	A	G	18	59900581	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.12581597765867E-4	0.0
18	57567813	A	T	18	59900581	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.3099781559464E-4	0.0
18	57567814	G	A	18	59900582	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.00237884990209E-5	0.002
18	57567814	G	C	18	59900582	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.1762508537928E-5	0.002
18	57567814	G	T	18	59900582	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.1762508537928E-5	0.002
18	57567815	G	A	18	59900583	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.07902708129146E-4	0.004
18	57567815	G	C	18	59900583	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.5908222467397E-5	0.002
18	57567815	G	T	18	59900583	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.5908222467397E-5	0.002
18	57567816	C	A	18	59900584	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	7.04278140930798E-5	0.002
18	57567816	C	G	18	59900584	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	7.04278140930798E-5	0.002
18	57567816	C	T	18	59900584	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	7.04278140930798E-5	0.002
18	57567817	G	A	18	59900585	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.69439264402225E-5	0.0
18	57567817	G	C	18	59900585	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.69439264402225E-5	0.0
18	57567817	G	T	18	59900585	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	5.69439264402225E-5	0.0
18	57567818	G	A	18	59900586	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.47413882681639E-5	0.0
18	57567818	G	C	18	59900586	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.47413882681639E-5	0.0
18	57567818	G	T	18	59900586	n	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.47413882681639E-5	0.0
18	57569867	T	A	18	59902635	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	8.66751697140817E-4	0.104
18	57569867	T	C	18	59902635	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.8569595874736E-4	0.038
18	57569867	T	G	18	59902635	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	6.8992847485494E-4	0.08
18	57569868	T	A	18	59902636	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.82498660897146E-4	0.28
18	57569868	T	C	18	59902636	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.29509896836665E-4	0.08
18	57569868	T	G	18	59902636	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.90452817275095E-4	0.152
18	57569869	T	A	18	59902637	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.00100233721759066	0.132
18	57569869	T	C	18	59902637	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.60641239271981E-4	0.074
18	57569869	T	G	18	59902637	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.00327749686924223	0.114
18	57569870	C	A	18	59902638	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.88023750907761E-4	0.064
18	57569870	C	G	18	59902638	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	3.01329303286715E-4	0.028
18	57569870	C	T	18	59902638	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.99572136964394E-5	0.026
18	57569871	C	A	18	59902639	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.77773315771016E-4	0.014
18	57569871	C	G	18	59902639	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	1.20655045198483E-4	0.03
18	57569871	C	T	18	59902639	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.69858722300964E-5	0.0
18	57569872	T	A	18	59902640	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.00178873392365515	0.106
18	57569872	T	C	18	59902640	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	3.26134979503554E-4	0.008
18	57569872	T	G	18	59902640	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.00223231241785922	0.152
18	57569873	T	A	18	59902641	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.00741174595569585	0.126
18	57569873	T	C	18	59902641	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	4.14120755989179E-5	0.0
18	57569873	T	G	18	59902641	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.00430995844397173	0.088
18	57569874	C	A	18	59902642	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.1154009120339E-4	0.002
18	57569874	C	G	18	59902642	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	8.76097285255613E-4	0.06
18	57569874	C	T	18	59902642	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	2.0575213026391E-5	0.0
18	57569875	T	A	18	59902643	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	8.45900571352954E-5	0.0
18	57569875	T	C	18	59902643	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	8.49510430556061E-5	0.0
18	57569875	T	G	18	59902643	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	9.99230267740666E-5	0.0
18	57569876	C	A	18	59902644	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.42537395218776	0.446
18	57569876	C	G	18	59902644	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.99989461433427	0.982
18	57569876	C	T	18	59902644	y	y	intronic	PMAIP1	.	.	intronic	ENSG00000141682	.	.	0.00132510838585407	0.016
18	57569877	A	C	18	59902645	y	y	splicing	PMAIP1(NM_021127:exon2:c.59-2A>C)	.	.	splicing	ENSG00000141682(ENST00000316660:exon2:c.59-2A>C;ENST00000269518:exon3:c.210-2A>C)	.	.	0.999964896440643	0.938
18	57569877	A	G	18	59902645	y	y	splicing	PMAIP1(NM_021127:exon2:c.59-2A>G)	.	.	splicing	ENSG00000141682(ENST00000316660:exon2:c.59-2A>G;ENST00000269518:exon3:c.210-2A>G)	.	.	0.999964896440643	0.938
18	57569877	A	T	18	59902645	y	y	splicing	PMAIP1(NM_021127:exon2:c.59-2A>T)	.	.	splicing	ENSG00000141682(ENST00000316660:exon2:c.59-2A>T;ENST00000269518:exon3:c.210-2A>T)	.	.	0.999946188727699	0.94
18	57569878	G	A	18	59902646	y	y	splicing	PMAIP1(NM_021127:exon2:c.59-1G>A)	.	.	splicing	ENSG00000141682(ENST00000316660:exon2:c.59-1G>A;ENST00000269518:exon3:c.210-1G>A)	.	.	0.999971209564868	0.938
18	57569878	G	C	18	59902646	y	y	splicing	PMAIP1(NM_021127:exon2:c.59-1G>C)	.	.	splicing	ENSG00000141682(ENST00000316660:exon2:c.59-1G>C;ENST00000269518:exon3:c.210-1G>C)	.	.	0.999960597114489	0.904
18	57569878	G	T	18	59902646	y	y	splicing	PMAIP1(NM_021127:exon2:c.59-1G>T)	.	.	splicing	ENSG00000141682(ENST00000316660:exon2:c.59-1G>T;ENST00000269518:exon3:c.210-1G>T)	.	.	0.999970205305079	0.936
18	57569879	A	C	18	59902647	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon2:c.A59C:p.E20A;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon2:c.A59C:p.E20A;	0.0081823354198977	0.106
18	57569879	A	G	18	59902647	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon2:c.A59G:p.E20G;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon2:c.A59G:p.E20G;	0.00152380335658503	0.006
18	57569879	A	T	18	59902647	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon2:c.A59T:p.E20V;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon2:c.A59T:p.E20V;	0.0246451482022732	0.246
18	57569880	G	A	18	59902648	y	y	exonic	PMAIP1	synonymous SNV	PMAIP1:NM_021127:exon2:c.G60A:p.E20E;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000269518:exon3:c.G211A:p.A71T;	6.55401515512453E-5	0.0
18	57569880	G	C	18	59902648	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon2:c.G60C:p.E20D;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon2:c.G60C:p.E20D;ENSG00000141682:ENST00000269518:exon3:c.G211C:p.A71P;	4.05875653245551E-5	0.016
18	57569880	G	T	18	59902648	y	y	exonic	PMAIP1	nonsynonymous SNV	PMAIP1:NM_021127:exon2:c.G60T:p.E20D;	exonic	ENSG00000141682	nonsynonymous SNV	ENSG00000141682:ENST00000316660:exon2:c.G60T:p.E20D;ENSG00000141682:ENST00000269518:exon3:c.G211T:p.A71S;	2.64028672404702E-5	0.004
18	59157623	T	A	18	61490390	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.732450592735242	0.67
18	59157623	T	C	18	61490390	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.563952766940016	0.652
18	59157623	T	G	18	61490390	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.563952766940016	0.652
18	59157624	T	A	18	61490391	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.762782195123741	0.69
18	59157624	T	C	18	61490391	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.762782195123741	0.684
18	59157624	T	G	18	61490391	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.762782195123741	0.684
18	59157625	A	C	18	61490392	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	5.8158241469895E-5	0.044
18	59157625	A	G	18	61490392	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	6.36406572672624E-5	0.054
18	59157625	A	T	18	61490392	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	1.4942720485679E-5	0.034
18	59157626	A	C	18	61490393	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	1.44652779472488E-5	0.024
18	59157626	A	G	18	61490393	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	1.44652779472488E-5	0.024
18	59157626	A	T	18	61490393	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	2.47781357188062E-5	0.058
18	59157627	C	A	18	61490394	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	8.55472960422104E-5	0.0
18	59157627	C	G	18	61490394	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	8.55472960422104E-5	0.0
18	59157627	C	T	18	61490394	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	9.95416542160471E-5	0.0
18	59157628	T	A	18	61490395	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00950739861392287	0.03
18	59157628	T	C	18	61490395	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00640936610638021	0.03
18	59157628	T	G	18	61490395	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00640936610638021	0.03
18	59157629	T	A	18	61490396	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00105366338095032	0.0
18	59157629	T	C	18	61490396	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00106472840520139	0.012
18	59157629	T	G	18	61490396	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00106472840520139	0.004
18	59157630	G	A	18	61490397	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	9.16811292047004E-4	0.008
18	59157630	G	C	18	61490397	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	6.81050447486223E-4	0.012
18	59157630	G	T	18	61490397	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	9.16811292047004E-4	0.01
18	59157631	A	C	18	61490398	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00135470015719765	0.002
18	59157631	A	G	18	61490398	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00135470015719765	0.002
18	59157631	A	T	18	61490398	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00122913998718321	0.0
18	59157632	C	A	18	61490399	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	3.54004682168068E-4	0.02
18	59157632	C	G	18	61490399	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	3.54004682168068E-4	0.03
18	59157632	C	T	18	61490399	n	y	upstream	CDH20	.	.	intronic	ENSG00000101542	.	.	3.54004682168068E-4	0.032
18	59157633	A	C	18	61490400	n	y	upstream	CDH20	.	.	splicing	ENSG00000101542	.	.	0.0253313923005412	0.164
18	59157633	A	G	18	61490400	n	y	upstream	CDH20	.	.	splicing	ENSG00000101542	.	.	0.0271092893311983	0.196
18	59157633	A	T	18	61490400	n	y	upstream	CDH20	.	.	splicing	ENSG00000101542	.	.	0.0665015540131142	0.372
18	59157634	G	A	18	61490401	n	y	upstream	CDH20	.	.	splicing	ENSG00000101542	.	.	0.971697303897212	0.846
18	59157634	G	C	18	61490401	n	y	upstream	CDH20	.	.	splicing	ENSG00000101542	.	.	0.93049346285218	0.742
18	59157634	G	T	18	61490401	n	y	upstream	CDH20	.	.	splicing	ENSG00000101542	.	.	0.945007378795476	0.784
18	59157635	G	A	18	61490402	n	y	upstream	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0175639562218241	0.044
18	59157635	G	C	18	61490402	n	y	upstream	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0118721215473808	0.044
18	59157635	G	T	18	61490402	n	y	upstream	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0202349653983014	0.044
18	59157636	A	C	18	61490403	n	y	upstream	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0213368074231874	0.08
18	59157636	A	G	18	61490403	n	y	upstream	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0213368074231874	0.078
18	59157636	A	T	18	61490403	n	y	upstream	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0255198428549631	0.146
18	59158030	A	C	18	61490797	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon1:c.A244C:p.K82Q;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon2:c.A244C:p.K82Q;ENSG00000101542:ENST00000262717:exon2:c.A244C:p.K82Q;ENSG00000101542:ENST00000536675:exon1:c.A244C:p.K82Q;	0.00293061290190668	0.022
18	59158030	A	G	18	61490797	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon1:c.A244G:p.K82E;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon2:c.A244G:p.K82E;ENSG00000101542:ENST00000262717:exon2:c.A244G:p.K82E;ENSG00000101542:ENST00000536675:exon1:c.A244G:p.K82E;	0.0881762449889412	0.322
18	59158030	A	T	18	61490797	y	y	exonic	CDH20	stopgain SNV	CDH20:NM_031891:exon1:c.A244T:p.K82X;	exonic	ENSG00000101542	stopgain SNV	ENSG00000101542:ENST00000538374:exon2:c.A244T:p.K82X;ENSG00000101542:ENST00000262717:exon2:c.A244T:p.K82X;ENSG00000101542:ENST00000536675:exon1:c.A244T:p.K82X;	0.907116641867005	0.586
18	59158031	A	C	18	61490798	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon1:c.A245C:p.K82T;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon2:c.A245C:p.K82T;ENSG00000101542:ENST00000262717:exon2:c.A245C:p.K82T;ENSG00000101542:ENST00000536675:exon1:c.A245C:p.K82T;	0.988836659955694	0.924
18	59158031	A	G	18	61490798	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon1:c.A245G:p.K82R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon2:c.A245G:p.K82R;ENSG00000101542:ENST00000262717:exon2:c.A245G:p.K82R;ENSG00000101542:ENST00000536675:exon1:c.A245G:p.K82R;	0.991089188477476	0.932
18	59158031	A	T	18	61490798	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon1:c.A245T:p.K82M;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon2:c.A245T:p.K82M;ENSG00000101542:ENST00000262717:exon2:c.A245T:p.K82M;ENSG00000101542:ENST00000536675:exon1:c.A245T:p.K82M;	0.991686162351887	0.672
18	59158032	G	A	18	61490799	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon1:c.G246A:p.K82K;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon2:c.G246A:p.K82K;ENSG00000101542:ENST00000262717:exon2:c.G246A:p.K82K;ENSG00000101542:ENST00000536675:exon1:c.G246A:p.K82K;	0.991946454606017	0.958
18	59158032	G	C	18	61490799	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon1:c.G246C:p.K82N;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon2:c.G246C:p.K82N;ENSG00000101542:ENST00000262717:exon2:c.G246C:p.K82N;ENSG00000101542:ENST00000536675:exon1:c.G246C:p.K82N;	0.999956334312493	0.984
18	59158032	G	T	18	61490799	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon1:c.G246T:p.K82N;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon2:c.G246T:p.K82N;ENSG00000101542:ENST00000262717:exon2:c.G246T:p.K82N;ENSG00000101542:ENST00000536675:exon1:c.G246T:p.K82N;	0.999727661930835	0.99
18	59158033	G	A	18	61490800	y	y	splicing	CDH20(NM_031891:exon1:c.246+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon2:c.246+1G>A;ENST00000538374:exon2:c.246+1G>A;ENST00000536675:exon1:c.246+1G>A)	.	.	0.999986675681007	0.938
18	59158033	G	C	18	61490800	y	y	splicing	CDH20(NM_031891:exon1:c.246+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon2:c.246+1G>C;ENST00000538374:exon2:c.246+1G>C;ENST00000536675:exon1:c.246+1G>C)	.	.	0.999986675681007	0.94
18	59158033	G	T	18	61490800	y	y	splicing	CDH20(NM_031891:exon1:c.246+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon2:c.246+1G>T;ENST00000538374:exon2:c.246+1G>T;ENST00000536675:exon1:c.246+1G>T)	.	.	0.999986675681007	0.94
18	59158034	T	A	18	61490801	y	y	splicing	CDH20(NM_031891:exon1:c.246+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon2:c.246+2T>A;ENST00000538374:exon2:c.246+2T>A;ENST00000536675:exon1:c.246+2T>A)	.	.	0.999989917668626	0.924
18	59158034	T	C	18	61490801	y	y	splicing	CDH20(NM_031891:exon1:c.246+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon2:c.246+2T>C;ENST00000538374:exon2:c.246+2T>C;ENST00000536675:exon1:c.246+2T>C)	.	.	0.986528855787127	0.608
18	59158034	T	G	18	61490801	y	y	splicing	CDH20(NM_031891:exon1:c.246+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon2:c.246+2T>G;ENST00000538374:exon2:c.246+2T>G;ENST00000536675:exon1:c.246+2T>G)	.	.	0.999989917668626	0.924
18	59158035	A	C	18	61490802	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.988380049804088	0.716
18	59158035	A	G	18	61490802	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.380045964067136	0.282
18	59158035	A	T	18	61490802	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.90488615574399	0.68
18	59158036	A	C	18	61490803	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.755585595088273	0.648
18	59158036	A	G	18	61490803	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.855745879823055	0.51
18	59158036	A	T	18	61490803	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.754502606510918	0.64
18	59158037	G	A	18	61490804	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.779179585964817	0.552
18	59158037	G	C	18	61490804	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.543872339445097	0.484
18	59158037	G	T	18	61490804	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.645518135830753	0.432
18	59158038	A	C	18	61490805	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.6929216244763E-5	0.026
18	59158038	A	G	18	61490805	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.34111905030817E-5	0.018
18	59158038	A	T	18	61490805	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.48232850329252E-5	0.03
18	59158039	A	C	18	61490806	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.41980801714125E-5	0.002
18	59158039	A	G	18	61490806	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.69177721542944E-5	0.002
18	59158039	A	T	18	61490806	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.77457243820827E-5	0.0
18	59158040	A	C	18	61490807	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	9.09421806349221E-6	0.0
18	59158040	A	G	18	61490807	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.66440652146743E-5	0.0
18	59158040	A	T	18	61490807	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.48929332251792E-5	0.002
18	59166407	T	A	18	61499174	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00413927030373443	0.214
18	59166407	T	C	18	61499174	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.91070787647019E-4	0.016
18	59166407	T	G	18	61499174	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00387716495888235	0.162
18	59166408	T	A	18	61499175	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0312910051056998	0.31
18	59166408	T	C	18	61499175	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.63741165580348E-4	0.006
18	59166408	T	G	18	61499175	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00111596807079205	0.174
18	59166409	C	A	18	61499176	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.013908281472085	0.168
18	59166409	C	G	18	61499176	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00136688182069	0.056
18	59166409	C	T	18	61499176	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.25880204719657E-5	0.0
18	59166410	C	A	18	61499177	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.53031631104159E-4	0.026
18	59166410	C	G	18	61499177	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.29575331211939E-4	0.034
18	59166410	C	T	18	61499177	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.99365683652748E-5	0.0
18	59166411	T	A	18	61499178	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.37703936805197E-4	0.112
18	59166411	T	C	18	61499178	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	9.55049850481052E-6	0.0
18	59166411	T	G	18	61499178	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.8173394148886E-4	0.064
18	59166412	C	A	18	61499179	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00454629253916345	0.138
18	59166412	C	G	18	61499179	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00490391241327596	0.142
18	59166412	C	T	18	61499179	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.11086881391206E-5	0.0
18	59166413	T	A	18	61499180	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00184861585380942	0.06
18	59166413	T	C	18	61499180	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.2727413478809E-4	0.01
18	59166413	T	G	18	61499180	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00228246953271438	0.106
18	59166414	C	A	18	61499181	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.092400075754593	0.268
18	59166414	C	G	18	61499181	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.108317848967328	0.278
18	59166414	C	T	18	61499181	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00101086051141142	0.066
18	59166415	C	A	18	61499182	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.0985785742565E-5	0.002
18	59166415	C	G	18	61499182	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.8375517602588E-5	0.004
18	59166415	C	T	18	61499182	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.0985785742565E-5	0.0
18	59166416	C	A	18	61499183	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.981657094015491	0.7
18	59166416	C	G	18	61499183	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999818035381752	0.916
18	59166416	C	T	18	61499183	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00370363163808215	0.038
18	59166417	A	C	18	61499184	y	y	splicing	CDH20(NM_031891:exon2:c.247-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.247-2A>C;ENST00000538374:exon3:c.247-2A>C;ENST00000536675:exon2:c.247-2A>C)	.	.	0.999988247793601	0.93
18	59166417	A	G	18	61499184	y	y	splicing	CDH20(NM_031891:exon2:c.247-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.247-2A>G;ENST00000538374:exon3:c.247-2A>G;ENST00000536675:exon2:c.247-2A>G)	.	.	0.999988247793601	0.93
18	59166417	A	T	18	61499184	y	y	splicing	CDH20(NM_031891:exon2:c.247-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.247-2A>T;ENST00000538374:exon3:c.247-2A>T;ENST00000536675:exon2:c.247-2A>T)	.	.	0.999988247793601	0.93
18	59166418	G	A	18	61499185	y	y	splicing	CDH20(NM_031891:exon2:c.247-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.247-1G>A;ENST00000538374:exon3:c.247-1G>A;ENST00000536675:exon2:c.247-1G>A)	.	.	0.999990361384395	0.938
18	59166418	G	C	18	61499185	y	y	splicing	CDH20(NM_031891:exon2:c.247-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.247-1G>C;ENST00000538374:exon3:c.247-1G>C;ENST00000536675:exon2:c.247-1G>C)	.	.	0.999990361384395	0.938
18	59166418	G	T	18	61499185	y	y	splicing	CDH20(NM_031891:exon2:c.247-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.247-1G>T;ENST00000538374:exon3:c.247-1G>T;ENST00000536675:exon2:c.247-1G>T)	.	.	0.999990361384395	0.938
18	59166419	C	A	18	61499186	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.C247A:p.L83I;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.C247A:p.L83I;ENSG00000101542:ENST00000262717:exon3:c.C247A:p.L83I;ENSG00000101542:ENST00000536675:exon2:c.C247A:p.L83I;	0.975920960156938	0.788
18	59166419	C	G	18	61499186	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.C247G:p.L83V;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.C247G:p.L83V;ENSG00000101542:ENST00000262717:exon3:c.C247G:p.L83V;ENSG00000101542:ENST00000536675:exon2:c.C247G:p.L83V;	0.974311718456238	0.632
18	59166419	C	T	18	61499186	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.C247T:p.L83F;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.C247T:p.L83F;ENSG00000101542:ENST00000262717:exon3:c.C247T:p.L83F;ENSG00000101542:ENST00000536675:exon2:c.C247T:p.L83F;	0.995677336318724	0.942
18	59166420	T	A	18	61499187	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.T248A:p.L83H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.T248A:p.L83H;ENSG00000101542:ENST00000262717:exon3:c.T248A:p.L83H;ENSG00000101542:ENST00000536675:exon2:c.T248A:p.L83H;	0.863829942141236	0.602
18	59166420	T	C	18	61499187	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.T248C:p.L83P;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.T248C:p.L83P;ENSG00000101542:ENST00000262717:exon3:c.T248C:p.L83P;ENSG00000101542:ENST00000536675:exon2:c.T248C:p.L83P;	0.872929914244466	0.604
18	59166420	T	G	18	61499187	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.T248G:p.L83R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.T248G:p.L83R;ENSG00000101542:ENST00000262717:exon3:c.T248G:p.L83R;ENSG00000101542:ENST00000536675:exon2:c.T248G:p.L83R;	0.876931596622085	0.606
18	59166711	T	A	18	61499478	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.T539A:p.V180E;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.T539A:p.V180E;ENSG00000101542:ENST00000262717:exon3:c.T539A:p.V180E;ENSG00000101542:ENST00000536675:exon2:c.T539A:p.V180E;	0.743308528622722	0.674
18	59166711	T	C	18	61499478	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.T539C:p.V180A;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.T539C:p.V180A;ENSG00000101542:ENST00000262717:exon3:c.T539C:p.V180A;ENSG00000101542:ENST00000536675:exon2:c.T539C:p.V180A;	0.734607980954045	0.644
18	59166711	T	G	18	61499478	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.T539G:p.V180G;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.T539G:p.V180G;ENSG00000101542:ENST00000262717:exon3:c.T539G:p.V180G;ENSG00000101542:ENST00000536675:exon2:c.T539G:p.V180G;	0.831297889619012	0.782
18	59166712	G	A	18	61499479	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon2:c.G540A:p.V180V;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.G540A:p.V180V;ENSG00000101542:ENST00000262717:exon3:c.G540A:p.V180V;ENSG00000101542:ENST00000536675:exon2:c.G540A:p.V180V;	9.87818269744783E-4	0.108
18	59166712	G	C	18	61499479	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon2:c.G540C:p.V180V;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.G540C:p.V180V;ENSG00000101542:ENST00000262717:exon3:c.G540C:p.V180V;ENSG00000101542:ENST00000536675:exon2:c.G540C:p.V180V;	0.00237676714334699	0.004
18	59166712	G	T	18	61499479	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon2:c.G540T:p.V180V;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.G540T:p.V180V;ENSG00000101542:ENST00000262717:exon3:c.G540T:p.V180V;ENSG00000101542:ENST00000536675:exon2:c.G540T:p.V180V;	0.0032753705510903	0.012
18	59166713	G	A	18	61499480	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.G541A:p.G181S;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.G541A:p.G181S;ENSG00000101542:ENST00000262717:exon3:c.G541A:p.G181S;ENSG00000101542:ENST00000536675:exon2:c.G541A:p.G181S;	0.999991035940901	1.0
18	59166713	G	C	18	61499480	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.G541C:p.G181R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.G541C:p.G181R;ENSG00000101542:ENST00000262717:exon3:c.G541C:p.G181R;ENSG00000101542:ENST00000536675:exon2:c.G541C:p.G181R;	0.999993141279875	0.994
18	59166713	G	T	18	61499480	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon2:c.G541T:p.G181C;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon3:c.G541T:p.G181C;ENSG00000101542:ENST00000262717:exon3:c.G541T:p.G181C;ENSG00000101542:ENST00000536675:exon2:c.G541T:p.G181C;	0.999980068865731	1.0
18	59166714	G	A	18	61499481	y	y	splicing	CDH20(NM_031891:exon2:c.541+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.541+1G>A;ENST00000538374:exon3:c.541+1G>A;ENST00000536675:exon2:c.541+1G>A)	.	.	0.999990361384395	0.938
18	59166714	G	C	18	61499481	y	y	splicing	CDH20(NM_031891:exon2:c.541+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.541+1G>C;ENST00000538374:exon3:c.541+1G>C;ENST00000536675:exon2:c.541+1G>C)	.	.	0.999990361384395	0.938
18	59166714	G	T	18	61499481	y	y	splicing	CDH20(NM_031891:exon2:c.541+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.541+1G>T;ENST00000538374:exon3:c.541+1G>T;ENST00000536675:exon2:c.541+1G>T)	.	.	0.999990361384395	0.938
18	59166715	T	A	18	61499482	y	y	splicing	CDH20(NM_031891:exon2:c.541+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.541+2T>A;ENST00000538374:exon3:c.541+2T>A;ENST00000536675:exon2:c.541+2T>A)	.	.	0.999988247793601	0.93
18	59166715	T	C	18	61499482	y	y	splicing	CDH20(NM_031891:exon2:c.541+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.541+2T>C;ENST00000538374:exon3:c.541+2T>C;ENST00000536675:exon2:c.541+2T>C)	.	.	0.999934643991786	0.886
18	59166715	T	G	18	61499482	y	y	splicing	CDH20(NM_031891:exon2:c.541+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon3:c.541+2T>G;ENST00000538374:exon3:c.541+2T>G;ENST00000536675:exon2:c.541+2T>G)	.	.	0.999988247793601	0.93
18	59166716	A	C	18	61499483	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999842945710217	0.962
18	59166716	A	G	18	61499483	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997297500363125	0.742
18	59166716	A	T	18	61499483	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999938682391875	0.968
18	59166717	A	C	18	61499484	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.977117536757902	0.724
18	59166717	A	G	18	61499484	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997695524776614	0.91
18	59166717	A	T	18	61499484	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.994001001406474	0.846
18	59166718	G	A	18	61499485	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999812392949163	0.992
18	59166718	G	C	18	61499485	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999965442114449	0.974
18	59166718	G	T	18	61499485	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999861951440107	0.96
18	59166719	G	A	18	61499486	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.29995879411527E-4	0.002
18	59166719	G	C	18	61499486	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	9.16100648521805E-4	0.11
18	59166719	G	T	18	61499486	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.97004567787343E-4	0.082
18	59166720	T	A	18	61499487	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.10591234283348E-4	0.0
18	59166720	T	C	18	61499487	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.19389988099763E-4	0.002
18	59166720	T	G	18	61499487	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.19389988099763E-4	0.002
18	59166721	G	A	18	61499488	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0328763707265353	0.14
18	59166721	G	C	18	61499488	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0180497221378302	0.098
18	59166721	G	T	18	61499488	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0934564607960124	0.196
18	59167604	T	A	18	61500371	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.420854179929605	0.57
18	59167604	T	C	18	61500371	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0899203528655602	0.34
18	59167604	T	G	18	61500371	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.224221694229465	0.508
18	59167605	C	A	18	61500372	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0180966377300048	0.162
18	59167605	C	G	18	61500372	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00503196551263822	0.118
18	59167605	C	T	18	61500372	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0120968453503652	0.342
18	59167606	T	A	18	61500373	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.424326616753064	0.572
18	59167606	T	C	18	61500373	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.1161077869347	0.384
18	59167606	T	G	18	61500373	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.229081991523781	0.516
18	59167607	C	A	18	61500374	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0300588958327097	0.158
18	59167607	C	G	18	61500374	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0201455232559113	0.142
18	59167607	C	T	18	61500374	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0269182669575048	0.362
18	59167608	T	A	18	61500375	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00138146950599184	0.074
18	59167608	T	C	18	61500375	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00294107399382439	0.08
18	59167608	T	G	18	61500375	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.81905813783607E-4	0.098
18	59167609	T	A	18	61500376	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.39275207733603E-4	0.066
18	59167609	T	C	18	61500376	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.58996323437318E-5	0.002
18	59167609	T	G	18	61500376	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.29708876150605E-4	0.06
18	59167610	C	A	18	61500377	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0218151713617684	0.202
18	59167610	C	G	18	61500377	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00744232207482893	0.17
18	59167610	C	T	18	61500377	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.76881603235752E-4	0.068
18	59167611	C	A	18	61500378	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00293080320401003	0.08
18	59167611	C	G	18	61500378	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00623437928442473	0.15
18	59167611	C	T	18	61500378	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.6443227830604E-4	0.0
18	59167612	C	A	18	61500379	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.4810115997189E-5	0.004
18	59167612	C	G	18	61500379	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.4810115997189E-5	0.008
18	59167612	C	T	18	61500379	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.53427659973882E-4	0.01
18	59167613	C	A	18	61500380	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999299020477917	0.876
18	59167613	C	G	18	61500380	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999977326957815	0.954
18	59167613	C	T	18	61500380	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.986854079723907	0.4
18	59167614	A	C	18	61500381	y	y	splicing	CDH20(NM_031891:exon3:c.542-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.542-2A>C;ENST00000538374:exon4:c.542-2A>C;ENST00000536675:exon3:c.542-2A>C)	.	.	0.999989917668626	0.928
18	59167614	A	G	18	61500381	y	y	splicing	CDH20(NM_031891:exon3:c.542-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.542-2A>G;ENST00000538374:exon4:c.542-2A>G;ENST00000536675:exon3:c.542-2A>G)	.	.	0.999989917668626	0.928
18	59167614	A	T	18	61500381	y	y	splicing	CDH20(NM_031891:exon3:c.542-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.542-2A>T;ENST00000538374:exon4:c.542-2A>T;ENST00000536675:exon3:c.542-2A>T)	.	.	0.999989917668626	0.928
18	59167615	G	A	18	61500382	y	y	splicing	CDH20(NM_031891:exon3:c.542-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.542-1G>A;ENST00000538374:exon4:c.542-1G>A;ENST00000536675:exon3:c.542-1G>A)	.	.	0.999986675681007	0.934
18	59167615	G	C	18	61500382	y	y	splicing	CDH20(NM_031891:exon3:c.542-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.542-1G>C;ENST00000538374:exon4:c.542-1G>C;ENST00000536675:exon3:c.542-1G>C)	.	.	0.999986675681007	0.934
18	59167615	G	T	18	61500382	y	y	splicing	CDH20(NM_031891:exon3:c.542-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.542-1G>T;ENST00000538374:exon4:c.542-1G>T;ENST00000536675:exon3:c.542-1G>T)	.	.	0.999986675681007	0.934
18	59167616	G	A	18	61500383	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.G542A:p.G181D;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.G542A:p.G181D;ENSG00000101542:ENST00000262717:exon4:c.G542A:p.G181D;ENSG00000101542:ENST00000536675:exon3:c.G542A:p.G181D;	0.99643488895079	0.792
18	59167616	G	C	18	61500383	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.G542C:p.G181A;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.G542C:p.G181A;ENSG00000101542:ENST00000262717:exon4:c.G542C:p.G181A;ENSG00000101542:ENST00000536675:exon3:c.G542C:p.G181A;	0.998606896513277	0.892
18	59167616	G	T	18	61500383	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.G542T:p.G181V;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.G542T:p.G181V;ENSG00000101542:ENST00000262717:exon4:c.G542T:p.G181V;ENSG00000101542:ENST00000536675:exon3:c.G542T:p.G181V;	0.99864946121581	0.892
18	59167617	T	A	18	61500384	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon3:c.T543A:p.G181G;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.T543A:p.G181G;ENSG00000101542:ENST00000262717:exon4:c.T543A:p.G181G;ENSG00000101542:ENST00000536675:exon3:c.T543A:p.G181G;	8.26203860191193E-5	0.002
18	59167617	T	C	18	61500384	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon3:c.T543C:p.G181G;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.T543C:p.G181G;ENSG00000101542:ENST00000262717:exon4:c.T543C:p.G181G;ENSG00000101542:ENST00000536675:exon3:c.T543C:p.G181G;	1.0730236395015E-4	0.044
18	59167617	T	G	18	61500384	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon3:c.T543G:p.G181G;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.T543G:p.G181G;ENSG00000101542:ENST00000262717:exon4:c.T543G:p.G181G;ENSG00000101542:ENST00000536675:exon3:c.T543G:p.G181G;	9.10709744629953E-5	0.028
18	59167733	C	A	18	61500500	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.C659A:p.T220K;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.C659A:p.T220K;ENSG00000101542:ENST00000262717:exon4:c.C659A:p.T220K;ENSG00000101542:ENST00000536675:exon3:c.C659A:p.T220K;	0.90043972831235	0.81
18	59167733	C	G	18	61500500	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.C659G:p.T220R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.C659G:p.T220R;ENSG00000101542:ENST00000262717:exon4:c.C659G:p.T220R;ENSG00000101542:ENST00000536675:exon3:c.C659G:p.T220R;	0.849377712766783	0.65
18	59167733	C	T	18	61500500	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.C659T:p.T220I;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.C659T:p.T220I;ENSG00000101542:ENST00000262717:exon4:c.C659T:p.T220I;ENSG00000101542:ENST00000536675:exon3:c.C659T:p.T220I;	0.999236121897312	0.926
18	59167734	A	C	18	61500501	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon3:c.A660C:p.T220T;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.A660C:p.T220T;ENSG00000101542:ENST00000262717:exon4:c.A660C:p.T220T;ENSG00000101542:ENST00000536675:exon3:c.A660C:p.T220T;	0.999362221369127	0.984
18	59167734	A	G	18	61500501	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon3:c.A660G:p.T220T;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.A660G:p.T220T;ENSG00000101542:ENST00000262717:exon4:c.A660G:p.T220T;ENSG00000101542:ENST00000536675:exon3:c.A660G:p.T220T;	0.998278522219796	0.988
18	59167734	A	T	18	61500501	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon3:c.A660T:p.T220T;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.A660T:p.T220T;ENSG00000101542:ENST00000262717:exon4:c.A660T:p.T220T;ENSG00000101542:ENST00000536675:exon3:c.A660T:p.T220T;	0.999691970974482	0.988
18	59167735	G	A	18	61500502	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.G661A:p.G221S;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.G661A:p.G221S;ENSG00000101542:ENST00000262717:exon4:c.G661A:p.G221S;ENSG00000101542:ENST00000536675:exon3:c.G661A:p.G221S;	0.999994807411868	1.0
18	59167735	G	C	18	61500502	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.G661C:p.G221R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.G661C:p.G221R;ENSG00000101542:ENST00000262717:exon4:c.G661C:p.G221R;ENSG00000101542:ENST00000536675:exon3:c.G661C:p.G221R;	0.999995932297712	0.994
18	59167735	G	T	18	61500502	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon3:c.G661T:p.G221C;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon4:c.G661T:p.G221C;ENSG00000101542:ENST00000262717:exon4:c.G661T:p.G221C;ENSG00000101542:ENST00000536675:exon3:c.G661T:p.G221C;	0.999977958632507	1.0
18	59167736	G	A	18	61500503	y	y	splicing	CDH20(NM_031891:exon3:c.661+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.661+1G>A;ENST00000538374:exon4:c.661+1G>A;ENST00000536675:exon3:c.661+1G>A)	.	.	0.999986675681007	0.932
18	59167736	G	C	18	61500503	y	y	splicing	CDH20(NM_031891:exon3:c.661+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.661+1G>C;ENST00000538374:exon4:c.661+1G>C;ENST00000536675:exon3:c.661+1G>C)	.	.	0.999986675681007	0.932
18	59167736	G	T	18	61500503	y	y	splicing	CDH20(NM_031891:exon3:c.661+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.661+1G>T;ENST00000538374:exon4:c.661+1G>T;ENST00000536675:exon3:c.661+1G>T)	.	.	0.999986675681007	0.932
18	59167737	T	A	18	61500504	y	y	splicing	CDH20(NM_031891:exon3:c.661+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.661+2T>A;ENST00000538374:exon4:c.661+2T>A;ENST00000536675:exon3:c.661+2T>A)	.	.	0.999989917668626	0.926
18	59167737	T	C	18	61500504	y	y	splicing	CDH20(NM_031891:exon3:c.661+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.661+2T>C;ENST00000538374:exon4:c.661+2T>C;ENST00000536675:exon3:c.661+2T>C)	.	.	0.991007250132327	0.614
18	59167737	T	G	18	61500504	y	y	splicing	CDH20(NM_031891:exon3:c.661+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon4:c.661+2T>G;ENST00000538374:exon4:c.661+2T>G;ENST00000536675:exon3:c.661+2T>G)	.	.	0.999989917668626	0.926
18	59167738	A	C	18	61500505	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999913756088684	0.984
18	59167738	A	G	18	61500505	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999324658367919	0.962
18	59167738	A	T	18	61500505	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999913756088684	0.974
18	59167739	T	A	18	61500506	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.58473551413198E-5	0.05
18	59167739	T	C	18	61500506	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.76813322559479E-4	0.064
18	59167739	T	G	18	61500506	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.23142089674859E-4	0.026
18	59167740	C	A	18	61500507	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.40343259329015E-4	0.024
18	59167740	C	G	18	61500507	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.15253477012356E-4	0.03
18	59167740	C	T	18	61500507	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.32629569400605E-5	0.002
18	59167741	T	A	18	61500508	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00750355041934067	0.146
18	59167741	T	C	18	61500508	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00529755700811261	0.16
18	59167741	T	G	18	61500508	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0182286130336557	0.232
18	59167742	G	A	18	61500509	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.13558329993904E-4	0.004
18	59167742	G	C	18	61500509	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.43446648806704E-4	0.004
18	59167742	G	T	18	61500509	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.03351789787755E-4	0.002
18	59167743	A	C	18	61500510	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	9.56703868140031E-5	0.0
18	59167743	A	G	18	61500510	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.02323547898537E-4	0.202
18	59167743	A	T	18	61500510	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.67930502504965E-5	0.0
18	59170174	T	A	18	61502941	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0185956478014867	0.186
18	59170174	T	C	18	61502941	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.16417052727715E-4	0.01
18	59170174	T	G	18	61502941	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00674412296689615	0.172
18	59170175	C	A	18	61502942	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00562059103154149	0.208
18	59170175	C	G	18	61502942	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00123532253481989	0.018
18	59170175	C	T	18	61502942	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.07072002697292E-4	0.0
18	59170176	T	A	18	61502943	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.128161574492265	0.246
18	59170176	T	C	18	61502943	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	9.55888075904657E-4	0.06
18	59170176	T	G	18	61502943	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0613242960842227	0.196
18	59170177	A	C	18	61502944	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.33153364319265E-5	0.004
18	59170177	A	G	18	61502944	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.05567584519638E-4	0.006
18	59170177	A	T	18	61502944	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.63884562938959E-5	0.002
18	59170178	T	A	18	61502945	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00239918002071378	0.096
18	59170178	T	C	18	61502945	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.28580803622013E-4	0.006
18	59170178	T	G	18	61502945	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999806164138938	0.978
18	59170179	C	A	18	61502946	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00566614191559776	0.056
18	59170179	C	G	18	61502946	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00564424115657678	0.05
18	59170179	C	T	18	61502946	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.40760094221801E-5	0.016
18	59170180	C	A	18	61502947	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00331471769011571	0.098
18	59170180	C	G	18	61502947	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00166830757248303	0.098
18	59170180	C	T	18	61502947	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.78146197423978E-5	0.0
18	59170181	T	A	18	61502948	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0270142989086221	0.282
18	59170181	T	C	18	61502948	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.0550823337669E-4	0.016
18	59170181	T	G	18	61502948	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00906401676106199	0.272
18	59170182	C	A	18	61502949	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.93956651976345E-5	0.0
18	59170182	C	G	18	61502949	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.84869509942137E-5	0.0
18	59170182	C	T	18	61502949	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.45516819427564E-5	0.0
18	59170183	C	A	18	61502950	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999938428957358	0.946
18	59170183	C	G	18	61502950	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999962134530252	0.924
18	59170183	C	T	18	61502950	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.969859578011858	0.334
18	59170184	A	C	18	61502951	y	y	splicing	CDH20(NM_031891:exon4:c.662-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.662-2A>C;ENST00000538374:exon5:c.662-2A>C;ENST00000536675:exon4:c.662-2A>C)	.	.	0.999988247793601	0.93
18	59170184	A	G	18	61502951	y	y	splicing	CDH20(NM_031891:exon4:c.662-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.662-2A>G;ENST00000538374:exon5:c.662-2A>G;ENST00000536675:exon4:c.662-2A>G)	.	.	0.999988247793601	0.93
18	59170184	A	T	18	61502951	y	y	splicing	CDH20(NM_031891:exon4:c.662-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.662-2A>T;ENST00000538374:exon5:c.662-2A>T;ENST00000536675:exon4:c.662-2A>T)	.	.	0.999988247793601	0.93
18	59170185	G	A	18	61502952	y	y	splicing	CDH20(NM_031891:exon4:c.662-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.662-1G>A;ENST00000538374:exon5:c.662-1G>A;ENST00000536675:exon4:c.662-1G>A)	.	.	0.999990361384395	0.938
18	59170185	G	C	18	61502952	y	y	splicing	CDH20(NM_031891:exon4:c.662-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.662-1G>C;ENST00000538374:exon5:c.662-1G>C;ENST00000536675:exon4:c.662-1G>C)	.	.	0.999990361384395	0.938
18	59170185	G	T	18	61502952	y	y	splicing	CDH20(NM_031891:exon4:c.662-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.662-1G>T;ENST00000538374:exon5:c.662-1G>T;ENST00000536675:exon4:c.662-1G>T)	.	.	0.999990361384395	0.938
18	59170186	G	A	18	61502953	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.G662A:p.G221D;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.G662A:p.G221D;ENSG00000101542:ENST00000262717:exon5:c.G662A:p.G221D;ENSG00000101542:ENST00000536675:exon4:c.G662A:p.G221D;	0.999074307338971	0.89
18	59170186	G	C	18	61502953	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.G662C:p.G221A;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.G662C:p.G221A;ENSG00000101542:ENST00000262717:exon5:c.G662C:p.G221A;ENSG00000101542:ENST00000536675:exon4:c.G662C:p.G221A;	0.999810612418987	0.964
18	59170186	G	T	18	61502953	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.G662T:p.G221V;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.G662T:p.G221V;ENSG00000101542:ENST00000262717:exon5:c.G662T:p.G221V;ENSG00000101542:ENST00000536675:exon4:c.G662T:p.G221V;	0.999695892542743	0.982
18	59170187	T	A	18	61502954	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon4:c.T663A:p.G221G;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.T663A:p.G221G;ENSG00000101542:ENST00000262717:exon5:c.T663A:p.G221G;ENSG00000101542:ENST00000536675:exon4:c.T663A:p.G221G;	0.00316189259134727	0.104
18	59170187	T	C	18	61502954	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon4:c.T663C:p.G221G;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.T663C:p.G221G;ENSG00000101542:ENST00000262717:exon5:c.T663C:p.G221G;ENSG00000101542:ENST00000536675:exon4:c.T663C:p.G221G;	0.0054280199081278	0.108
18	59170187	T	G	18	61502954	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon4:c.T663G:p.G221G;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.T663G:p.G221G;ENSG00000101542:ENST00000262717:exon5:c.T663G:p.G221G;ENSG00000101542:ENST00000536675:exon4:c.T663G:p.G221G;	0.00756187258606158	0.118
18	59170351	A	C	18	61503118	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.A827C:p.Q276P;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.A827C:p.Q276P;ENSG00000101542:ENST00000262717:exon5:c.A827C:p.Q276P;ENSG00000101542:ENST00000536675:exon4:c.A827C:p.Q276P;	0.897990647295059	0.762
18	59170351	A	G	18	61503118	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.A827G:p.Q276R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.A827G:p.Q276R;ENSG00000101542:ENST00000262717:exon5:c.A827G:p.Q276R;ENSG00000101542:ENST00000536675:exon4:c.A827G:p.Q276R;	0.738949754258737	0.512
18	59170351	A	T	18	61503118	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.A827T:p.Q276L;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.A827T:p.Q276L;ENSG00000101542:ENST00000262717:exon5:c.A827T:p.Q276L;ENSG00000101542:ENST00000536675:exon4:c.A827T:p.Q276L;	0.99274509300863	0.65
18	59170352	G	A	18	61503119	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon4:c.G828A:p.Q276Q;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.G828A:p.Q276Q;ENSG00000101542:ENST00000262717:exon5:c.G828A:p.Q276Q;ENSG00000101542:ENST00000536675:exon4:c.G828A:p.Q276Q;	0.00261636059062404	0.07
18	59170352	G	C	18	61503119	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.G828C:p.Q276H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.G828C:p.Q276H;ENSG00000101542:ENST00000262717:exon5:c.G828C:p.Q276H;ENSG00000101542:ENST00000536675:exon4:c.G828C:p.Q276H;	0.00593687701534757	0.116
18	59170352	G	T	18	61503119	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.G828T:p.Q276H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.G828T:p.Q276H;ENSG00000101542:ENST00000262717:exon5:c.G828T:p.Q276H;ENSG00000101542:ENST00000536675:exon4:c.G828T:p.Q276H;	0.0835186060850565	0.286
18	59170353	A	C	18	61503120	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.A829C:p.K277Q;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.A829C:p.K277Q;ENSG00000101542:ENST00000262717:exon5:c.A829C:p.K277Q;ENSG00000101542:ENST00000536675:exon4:c.A829C:p.K277Q;	0.531695256901283	0.71
18	59170353	A	G	18	61503120	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon4:c.A829G:p.K277E;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon5:c.A829G:p.K277E;ENSG00000101542:ENST00000262717:exon5:c.A829G:p.K277E;ENSG00000101542:ENST00000536675:exon4:c.A829G:p.K277E;	0.475979323751807	0.348
18	59170353	A	T	18	61503120	y	y	exonic	CDH20	stopgain SNV	CDH20:NM_031891:exon4:c.A829T:p.K277X;	exonic	ENSG00000101542	stopgain SNV	ENSG00000101542:ENST00000538374:exon5:c.A829T:p.K277X;ENSG00000101542:ENST00000262717:exon5:c.A829T:p.K277X;ENSG00000101542:ENST00000536675:exon4:c.A829T:p.K277X;	0.899299859796985	0.784
18	59170354	G	A	18	61503121	y	y	splicing	CDH20(NM_031891:exon4:c.829+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.829+1G>A;ENST00000538374:exon5:c.829+1G>A;ENST00000536675:exon4:c.829+1G>A)	.	.	0.999990361384395	0.938
18	59170354	G	C	18	61503121	y	y	splicing	CDH20(NM_031891:exon4:c.829+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.829+1G>C;ENST00000538374:exon5:c.829+1G>C;ENST00000536675:exon4:c.829+1G>C)	.	.	0.999990361384395	0.938
18	59170354	G	T	18	61503121	y	y	splicing	CDH20(NM_031891:exon4:c.829+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.829+1G>T;ENST00000538374:exon5:c.829+1G>T;ENST00000536675:exon4:c.829+1G>T)	.	.	0.999990361384395	0.938
18	59170355	T	A	18	61503122	y	y	splicing	CDH20(NM_031891:exon4:c.829+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.829+2T>A;ENST00000538374:exon5:c.829+2T>A;ENST00000536675:exon4:c.829+2T>A)	.	.	0.999988247793601	0.932
18	59170355	T	C	18	61503122	y	y	splicing	CDH20(NM_031891:exon4:c.829+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.829+2T>C;ENST00000538374:exon5:c.829+2T>C;ENST00000536675:exon4:c.829+2T>C)	.	.	0.999947347905381	0.866
18	59170355	T	G	18	61503122	y	y	splicing	CDH20(NM_031891:exon4:c.829+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon5:c.829+2T>G;ENST00000538374:exon5:c.829+2T>G;ENST00000536675:exon4:c.829+2T>G)	.	.	0.999988247793601	0.932
18	59170356	G	A	18	61503123	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.24094141462028E-4	0.006
18	59170356	G	C	18	61503123	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998745892420502	0.72
18	59170356	G	T	18	61503123	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.995822866805182	0.602
18	59170357	A	C	18	61503124	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999344146926048	0.95
18	59170357	A	G	18	61503124	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999659333504073	0.968
18	59170357	A	T	18	61503124	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999910687505041	0.928
18	59170358	G	A	18	61503125	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999987040453402	1.0
18	59170358	G	C	18	61503125	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999987040453402	0.992
18	59170358	G	T	18	61503125	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999987040453402	0.984
18	59170359	T	A	18	61503126	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998121972140583	0.828
18	59170359	T	C	18	61503126	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997201089836947	0.986
18	59170359	T	G	18	61503126	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997522512013706	0.918
18	59170360	A	C	18	61503127	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.55232293977891E-4	0.006
18	59170360	A	G	18	61503127	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.55232293977891E-4	0.002
18	59170360	A	T	18	61503127	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.03789903775416E-4	0.002
18	59170361	C	A	18	61503128	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.31841872733152E-5	0.014
18	59170361	C	G	18	61503128	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.50699185493666E-5	0.008
18	59170361	C	T	18	61503128	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.70131654410525E-5	0.0
18	59174594	T	A	18	61507361	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0382735828424414	0.186
18	59174594	T	C	18	61507361	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.56406961493015E-4	0.036
18	59174594	T	G	18	61507361	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0333898460551716	0.128
18	59174595	T	A	18	61507362	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0555980131120524	0.46
18	59174595	T	C	18	61507362	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00467016454807257	0.138
18	59174595	T	G	18	61507362	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0369887769602061	0.3
18	59174596	T	A	18	61507363	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0253754186417931	0.14
18	59174596	T	C	18	61507363	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.5596338525775E-4	0.006
18	59174596	T	G	18	61507363	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0149787735091446	0.208
18	59174597	T	A	18	61507364	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00520501828703893	0.11
18	59174597	T	C	18	61507364	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.46414965357089E-4	0.042
18	59174597	T	G	18	61507364	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0104511993280021	0.12
18	59174598	C	A	18	61507365	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.83580639831705E-4	0.042
18	59174598	C	G	18	61507365	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.18162983452148E-4	0.024
18	59174598	C	T	18	61507365	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.50577574300512E-5	0.0
18	59174599	T	A	18	61507366	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00454093531702577	0.092
18	59174599	T	C	18	61507366	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.92971050555906E-4	0.004
18	59174599	T	G	18	61507366	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00776863560098781	0.112
18	59174600	T	A	18	61507367	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00114021933054888	0.042
18	59174600	T	C	18	61507367	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.34097576867866E-4	0.056
18	59174600	T	G	18	61507367	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00366687788224521	0.072
18	59174601	C	A	18	61507368	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.985918036631131	0.896
18	59174601	C	G	18	61507368	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.48743765667972E-4	0.188
18	59174601	C	T	18	61507368	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.1828096793512E-5	0.0
18	59174602	G	A	18	61507369	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.60754846937727E-5	0.002
18	59174602	G	C	18	61507369	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.15650423199578E-5	0.0
18	59174602	G	T	18	61507369	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.69747758742791E-5	0.0
18	59174603	T	A	18	61507370	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0195569471862573	0.286
18	59174603	T	C	18	61507370	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.02394605631109E-4	0.006
18	59174603	T	G	18	61507370	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998565411747669	0.738
18	59174604	A	C	18	61507371	y	y	splicing	CDH20(NM_031891:exon5:c.830-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.830-2A>C;ENST00000538374:exon6:c.830-2A>C;ENST00000536675:exon5:c.830-2A>C)	.	.	0.999988247793601	0.926
18	59174604	A	G	18	61507371	y	y	splicing	CDH20(NM_031891:exon5:c.830-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.830-2A>G;ENST00000538374:exon6:c.830-2A>G;ENST00000536675:exon5:c.830-2A>G)	.	.	0.999988247793601	0.926
18	59174604	A	T	18	61507371	y	y	splicing	CDH20(NM_031891:exon5:c.830-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.830-2A>T;ENST00000538374:exon6:c.830-2A>T;ENST00000536675:exon5:c.830-2A>T)	.	.	0.999988247793601	0.926
18	59174605	G	A	18	61507372	y	y	splicing	CDH20(NM_031891:exon5:c.830-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.830-1G>A;ENST00000538374:exon6:c.830-1G>A;ENST00000536675:exon5:c.830-1G>A)	.	.	0.999986675681007	0.928
18	59174605	G	C	18	61507372	y	y	splicing	CDH20(NM_031891:exon5:c.830-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.830-1G>C;ENST00000538374:exon6:c.830-1G>C;ENST00000536675:exon5:c.830-1G>C)	.	.	0.999986675681007	0.926
18	59174605	G	T	18	61507372	y	y	splicing	CDH20(NM_031891:exon5:c.830-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.830-1G>T;ENST00000538374:exon6:c.830-1G>T;ENST00000536675:exon5:c.830-1G>T)	.	.	0.999986675681007	0.926
18	59174606	A	C	18	61507373	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A830C:p.K277T;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A830C:p.K277T;ENSG00000101542:ENST00000262717:exon6:c.A830C:p.K277T;ENSG00000101542:ENST00000536675:exon5:c.A830C:p.K277T;	0.259180874402992	0.546
18	59174606	A	G	18	61507373	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A830G:p.K277R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A830G:p.K277R;ENSG00000101542:ENST00000262717:exon6:c.A830G:p.K277R;ENSG00000101542:ENST00000536675:exon5:c.A830G:p.K277R;	0.00256480638140579	0.01
18	59174606	A	T	18	61507373	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A830T:p.K277I;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A830T:p.K277I;ENSG00000101542:ENST00000262717:exon6:c.A830T:p.K277I;ENSG00000101542:ENST00000536675:exon5:c.A830T:p.K277I;	0.450352160115003	0.492
18	59174607	A	C	18	61507374	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A831C:p.K277N;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A831C:p.K277N;ENSG00000101542:ENST00000262717:exon6:c.A831C:p.K277N;ENSG00000101542:ENST00000536675:exon5:c.A831C:p.K277N;	0.721762856306687	0.74
18	59174607	A	G	18	61507374	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon5:c.A831G:p.K277K;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A831G:p.K277K;ENSG00000101542:ENST00000262717:exon6:c.A831G:p.K277K;ENSG00000101542:ENST00000536675:exon5:c.A831G:p.K277K;	0.00543589146585949	0.024
18	59174607	A	T	18	61507374	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A831T:p.K277N;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A831T:p.K277N;ENSG00000101542:ENST00000262717:exon6:c.A831T:p.K277N;ENSG00000101542:ENST00000536675:exon5:c.A831T:p.K277N;	0.763373991449683	0.596
18	59174791	A	C	18	61507558	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A1015C:p.K339Q;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A1015C:p.K339Q;ENSG00000101542:ENST00000262717:exon6:c.A1015C:p.K339Q;ENSG00000101542:ENST00000536675:exon5:c.A1015C:p.K339Q;	0.729796252521637	0.638
18	59174791	A	G	18	61507558	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A1015G:p.K339E;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A1015G:p.K339E;ENSG00000101542:ENST00000262717:exon6:c.A1015G:p.K339E;ENSG00000101542:ENST00000536675:exon5:c.A1015G:p.K339E;	0.550372003019367	0.33
18	59174791	A	T	18	61507558	y	y	exonic	CDH20	stopgain SNV	CDH20:NM_031891:exon5:c.A1015T:p.K339X;	exonic	ENSG00000101542	stopgain SNV	ENSG00000101542:ENST00000538374:exon6:c.A1015T:p.K339X;ENSG00000101542:ENST00000262717:exon6:c.A1015T:p.K339X;ENSG00000101542:ENST00000536675:exon5:c.A1015T:p.K339X;	0.996320144470191	0.758
18	59174792	A	C	18	61507559	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A1016C:p.K339T;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A1016C:p.K339T;ENSG00000101542:ENST00000262717:exon6:c.A1016C:p.K339T;ENSG00000101542:ENST00000536675:exon5:c.A1016C:p.K339T;	0.999852794612532	0.986
18	59174792	A	G	18	61507559	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A1016G:p.K339R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A1016G:p.K339R;ENSG00000101542:ENST00000262717:exon6:c.A1016G:p.K339R;ENSG00000101542:ENST00000536675:exon5:c.A1016G:p.K339R;	0.99988861974195	0.998
18	59174792	A	T	18	61507559	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.A1016T:p.K339M;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.A1016T:p.K339M;ENSG00000101542:ENST00000262717:exon6:c.A1016T:p.K339M;ENSG00000101542:ENST00000536675:exon5:c.A1016T:p.K339M;	0.99987725819879	0.998
18	59174793	G	A	18	61507560	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon5:c.G1017A:p.K339K;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.G1017A:p.K339K;ENSG00000101542:ENST00000262717:exon6:c.G1017A:p.K339K;ENSG00000101542:ENST00000536675:exon5:c.G1017A:p.K339K;	0.999977024066993	0.99
18	59174793	G	C	18	61507560	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.G1017C:p.K339N;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.G1017C:p.K339N;ENSG00000101542:ENST00000262717:exon6:c.G1017C:p.K339N;ENSG00000101542:ENST00000536675:exon5:c.G1017C:p.K339N;	0.999997305513426	0.986
18	59174793	G	T	18	61507560	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon5:c.G1017T:p.K339N;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon6:c.G1017T:p.K339N;ENSG00000101542:ENST00000262717:exon6:c.G1017T:p.K339N;ENSG00000101542:ENST00000536675:exon5:c.G1017T:p.K339N;	0.999989622619037	0.972
18	59174794	G	A	18	61507561	y	y	splicing	CDH20(NM_031891:exon5:c.1017+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.1017+1G>A;ENST00000538374:exon6:c.1017+1G>A;ENST00000536675:exon5:c.1017+1G>A)	.	.	0.999986675681007	0.928
18	59174794	G	C	18	61507561	y	y	splicing	CDH20(NM_031891:exon5:c.1017+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.1017+1G>C;ENST00000538374:exon6:c.1017+1G>C;ENST00000536675:exon5:c.1017+1G>C)	.	.	0.999986675681007	0.928
18	59174794	G	T	18	61507561	y	y	splicing	CDH20(NM_031891:exon5:c.1017+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.1017+1G>T;ENST00000538374:exon6:c.1017+1G>T;ENST00000536675:exon5:c.1017+1G>T)	.	.	0.999986675681007	0.928
18	59174795	T	A	18	61507562	y	y	splicing	CDH20(NM_031891:exon5:c.1017+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.1017+2T>A;ENST00000538374:exon6:c.1017+2T>A;ENST00000536675:exon5:c.1017+2T>A)	.	.	0.999988247793601	0.928
18	59174795	T	C	18	61507562	y	y	splicing	CDH20(NM_031891:exon5:c.1017+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.1017+2T>C;ENST00000538374:exon6:c.1017+2T>C;ENST00000536675:exon5:c.1017+2T>C)	.	.	0.99295178357233	0.628
18	59174795	T	G	18	61507562	y	y	splicing	CDH20(NM_031891:exon5:c.1017+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon6:c.1017+2T>G;ENST00000538374:exon6:c.1017+2T>G;ENST00000536675:exon5:c.1017+2T>G)	.	.	0.999988247793601	0.928
18	59174796	A	C	18	61507563	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999855322201732	0.93
18	59174796	A	G	18	61507563	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997965380638153	0.968
18	59174796	A	T	18	61507563	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999839746084502	0.896
18	59174797	A	C	18	61507564	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.223968471963796	0.4
18	59174797	A	G	18	61507564	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.480609564646726	0.518
18	59174797	A	T	18	61507564	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.447700956486647	0.328
18	59174798	T	A	18	61507565	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.04003495657514E-4	0.06
18	59174798	T	C	18	61507565	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.09414737706779E-5	0.058
18	59174798	T	G	18	61507565	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.48629299672116E-4	0.044
18	59174799	C	A	18	61507566	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.99712688264902E-5	0.014
18	59174799	C	G	18	61507566	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.71109743625801E-4	0.03
18	59174799	C	T	18	61507566	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.70948729404888E-5	0.024
18	59174800	C	A	18	61507567	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.93644859752722E-4	0.014
18	59174800	C	G	18	61507567	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.08951353701433E-4	0.016
18	59174800	C	T	18	61507567	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00159652743156395	0.04
18	59174801	A	C	18	61507568	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	9.81727106700583E-4	0.006
18	59174801	A	G	18	61507568	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00464218950378141	0.01
18	59174801	A	T	18	61507568	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0011590152818623	0.092
18	59195188	A	C	18	61527955	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.11210748022978E-4	0.026
18	59195188	A	G	18	61527955	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.06977260967897E-4	0.018
18	59195188	A	T	18	61527955	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.49598647860449E-5	0.066
18	59195189	T	A	18	61527956	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.996742544131598	0.882
18	59195189	T	C	18	61527956	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.651936215917824	0.454
18	59195189	T	G	18	61527956	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999947631637181	0.974
18	59195190	T	A	18	61527957	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999978344898478	0.96
18	59195190	T	C	18	61527957	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00260710021391332	0.094
18	59195190	T	G	18	61527957	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.929431529482368	0.684
18	59195191	G	A	18	61527958	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.81792579335359E-4	0.004
18	59195191	G	C	18	61527958	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.16585527033295E-5	0.0
18	59195191	G	T	18	61527958	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.4794361728856E-5	0.0
18	59195192	C	A	18	61527959	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.7200146105928E-4	0.036
18	59195192	C	G	18	61527959	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00105453653606891	0.04
18	59195192	C	T	18	61527959	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.85213394965206E-5	0.002
18	59195193	T	A	18	61527960	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00289630601409038	0.028
18	59195193	T	C	18	61527960	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.07196190542552E-5	0.0
18	59195193	T	G	18	61527960	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00353583894910131	0.018
18	59195194	T	A	18	61527961	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997167706413466	0.824
18	59195194	T	C	18	61527961	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0358929171992476	0.242
18	59195194	T	G	18	61527961	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997502880438063	0.83
18	59195195	T	A	18	61527962	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997273632990842	0.816
18	59195195	T	C	18	61527962	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0917189712786052	0.214
18	59195195	T	G	18	61527962	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.995578528663365	0.822
18	59195196	T	A	18	61527963	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.18350696421617E-4	0.0
18	59195196	T	C	18	61527963	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.33961196966194E-4	0.0
18	59195196	T	G	18	61527963	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.5221263583748E-5	0.0
18	59195197	C	A	18	61527964	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.569920293641274	0.478
18	59195197	C	G	18	61527964	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999912869854081	0.894
18	59195197	C	T	18	61527964	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00607030828251592	0.058
18	59195198	A	C	18	61527965	y	y	splicing	CDH20(NM_031891:exon6:c.1018-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1018-2A>C;ENST00000538374:exon7:c.1018-2A>C;ENST00000536675:exon6:c.1018-2A>C)	.	.	0.999988247793601	0.92
18	59195198	A	G	18	61527965	y	y	splicing	CDH20(NM_031891:exon6:c.1018-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1018-2A>G;ENST00000538374:exon7:c.1018-2A>G;ENST00000536675:exon6:c.1018-2A>G)	.	.	0.999988247793601	0.92
18	59195198	A	T	18	61527965	y	y	splicing	CDH20(NM_031891:exon6:c.1018-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1018-2A>T;ENST00000538374:exon7:c.1018-2A>T;ENST00000536675:exon6:c.1018-2A>T)	.	.	0.999988247793601	0.92
18	59195199	G	A	18	61527966	y	y	splicing	CDH20(NM_031891:exon6:c.1018-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1018-1G>A;ENST00000538374:exon7:c.1018-1G>A;ENST00000536675:exon6:c.1018-1G>A)	.	.	0.999990361384395	0.928
18	59195199	G	C	18	61527966	y	y	splicing	CDH20(NM_031891:exon6:c.1018-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1018-1G>C;ENST00000538374:exon7:c.1018-1G>C;ENST00000536675:exon6:c.1018-1G>C)	.	.	0.999990361384395	0.928
18	59195199	G	T	18	61527966	y	y	splicing	CDH20(NM_031891:exon6:c.1018-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1018-1G>T;ENST00000538374:exon7:c.1018-1G>T;ENST00000536675:exon6:c.1018-1G>T)	.	.	0.999990361384395	0.928
18	59195200	C	A	18	61527967	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.C1018A:p.P340T;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1018A:p.P340T;ENSG00000101542:ENST00000262717:exon7:c.C1018A:p.P340T;ENSG00000101542:ENST00000536675:exon6:c.C1018A:p.P340T;	0.767348764843237	0.56
18	59195200	C	G	18	61527967	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.C1018G:p.P340A;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1018G:p.P340A;ENSG00000101542:ENST00000262717:exon7:c.C1018G:p.P340A;ENSG00000101542:ENST00000536675:exon6:c.C1018G:p.P340A;	0.742533283869985	0.412
18	59195200	C	T	18	61527967	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.C1018T:p.P340S;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1018T:p.P340S;ENSG00000101542:ENST00000262717:exon7:c.C1018T:p.P340S;ENSG00000101542:ENST00000536675:exon6:c.C1018T:p.P340S;	0.995534103874497	0.894
18	59195201	C	A	18	61527968	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.C1019A:p.P340H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1019A:p.P340H;ENSG00000101542:ENST00000262717:exon7:c.C1019A:p.P340H;ENSG00000101542:ENST00000536675:exon6:c.C1019A:p.P340H;	0.994930050904461	0.812
18	59195201	C	G	18	61527968	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.C1019G:p.P340R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1019G:p.P340R;ENSG00000101542:ENST00000262717:exon7:c.C1019G:p.P340R;ENSG00000101542:ENST00000536675:exon6:c.C1019G:p.P340R;	0.981373850142529	0.684
18	59195201	C	T	18	61527968	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.C1019T:p.P340L;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1019T:p.P340L;ENSG00000101542:ENST00000262717:exon7:c.C1019T:p.P340L;ENSG00000101542:ENST00000536675:exon6:c.C1019T:p.P340L;	0.935692243767656	0.716
18	59195451	C	A	18	61528218	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon6:c.C1269A:p.I423I;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1269A:p.I423I;ENSG00000101542:ENST00000262717:exon7:c.C1269A:p.I423I;ENSG00000101542:ENST00000536675:exon6:c.C1269A:p.I423I;	0.00359235920238395	0.128
18	59195451	C	G	18	61528218	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.C1269G:p.I423M;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1269G:p.I423M;ENSG00000101542:ENST00000262717:exon7:c.C1269G:p.I423M;ENSG00000101542:ENST00000536675:exon6:c.C1269G:p.I423M;	0.247981898664608	0.452
18	59195451	C	T	18	61528218	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon6:c.C1269T:p.I423I;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.C1269T:p.I423I;ENSG00000101542:ENST00000262717:exon7:c.C1269T:p.I423I;ENSG00000101542:ENST00000536675:exon6:c.C1269T:p.I423I;	0.99860126573026	0.886
18	59195452	A	C	18	61528219	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon6:c.A1270C:p.R424R;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.A1270C:p.R424R;ENSG00000101542:ENST00000262717:exon7:c.A1270C:p.R424R;ENSG00000101542:ENST00000536675:exon6:c.A1270C:p.R424R;	0.999866979015483	0.99
18	59195452	A	G	18	61528219	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.A1270G:p.R424G;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.A1270G:p.R424G;ENSG00000101542:ENST00000262717:exon7:c.A1270G:p.R424G;ENSG00000101542:ENST00000536675:exon6:c.A1270G:p.R424G;	0.999973529160251	0.99
18	59195452	A	T	18	61528219	y	y	exonic	CDH20	stopgain SNV	CDH20:NM_031891:exon6:c.A1270T:p.R424X;	exonic	ENSG00000101542	stopgain SNV	ENSG00000101542:ENST00000538374:exon7:c.A1270T:p.R424X;ENSG00000101542:ENST00000262717:exon7:c.A1270T:p.R424X;ENSG00000101542:ENST00000536675:exon6:c.A1270T:p.R424X;	0.999961688356013	0.966
18	59195453	G	A	18	61528220	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.G1271A:p.R424K;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.G1271A:p.R424K;ENSG00000101542:ENST00000262717:exon7:c.G1271A:p.R424K;ENSG00000101542:ENST00000536675:exon6:c.G1271A:p.R424K;	0.999995895497047	1.0
18	59195453	G	C	18	61528220	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.G1271C:p.R424T;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.G1271C:p.R424T;ENSG00000101542:ENST00000262717:exon7:c.G1271C:p.R424T;ENSG00000101542:ENST00000536675:exon6:c.G1271C:p.R424T;	0.999996509017366	1.0
18	59195453	G	T	18	61528220	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon6:c.G1271T:p.R424I;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon7:c.G1271T:p.R424I;ENSG00000101542:ENST00000262717:exon7:c.G1271T:p.R424I;ENSG00000101542:ENST00000536675:exon6:c.G1271T:p.R424I;	0.999993255752184	1.0
18	59195454	G	A	18	61528221	y	y	splicing	CDH20(NM_031891:exon6:c.1271+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1271+1G>A;ENST00000538374:exon7:c.1271+1G>A;ENST00000536675:exon6:c.1271+1G>A)	.	.	0.999989125585301	0.944
18	59195454	G	C	18	61528221	y	y	splicing	CDH20(NM_031891:exon6:c.1271+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1271+1G>C;ENST00000538374:exon7:c.1271+1G>C;ENST00000536675:exon6:c.1271+1G>C)	.	.	0.999989125585301	0.944
18	59195454	G	T	18	61528221	y	y	splicing	CDH20(NM_031891:exon6:c.1271+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1271+1G>T;ENST00000538374:exon7:c.1271+1G>T;ENST00000536675:exon6:c.1271+1G>T)	.	.	0.999989125585301	0.944
18	59195455	T	A	18	61528222	y	y	splicing	CDH20(NM_031891:exon6:c.1271+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1271+2T>A;ENST00000538374:exon7:c.1271+2T>A;ENST00000536675:exon6:c.1271+2T>A)	.	.	0.999986741007567	0.946
18	59195455	T	C	18	61528222	y	y	splicing	CDH20(NM_031891:exon6:c.1271+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1271+2T>C;ENST00000538374:exon7:c.1271+2T>C;ENST00000536675:exon6:c.1271+2T>C)	.	.	0.991645506214995	0.696
18	59195455	T	G	18	61528222	y	y	splicing	CDH20(NM_031891:exon6:c.1271+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon7:c.1271+2T>G;ENST00000538374:exon7:c.1271+2T>G;ENST00000536675:exon6:c.1271+2T>G)	.	.	0.999986741007567	0.946
18	59195456	T	A	18	61528223	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.38042734827858E-4	0.136
18	59195456	T	C	18	61528223	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00116333113451974	0.088
18	59195456	T	G	18	61528223	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.52711559067658E-4	0.062
18	59195457	T	A	18	61528224	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.43140806685409E-4	0.112
18	59195457	T	C	18	61528224	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00275639283144138	0.134
18	59195457	T	G	18	61528224	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.78068090246974E-4	0.058
18	59195458	T	A	18	61528225	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.13605953084143E-4	0.072
18	59195458	T	C	18	61528225	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.013384009140877	0.092
18	59195458	T	G	18	61528225	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.51921066268895E-4	0.046
18	59195459	T	A	18	61528226	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.28675624624571	0.48
18	59195459	T	C	18	61528226	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.449584760787112	0.544
18	59195459	T	G	18	61528226	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0240298480806803	0.388
18	59195460	C	A	18	61528227	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.92505068972298E-4	0.05
18	59195460	C	G	18	61528227	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.75904546007711E-4	0.034
18	59195460	C	T	18	61528227	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.92163559499811E-4	0.04
18	59195461	C	A	18	61528228	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.43219288752355E-4	0.03
18	59195461	C	G	18	61528228	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.29146356129305E-4	0.008
18	59195461	C	T	18	61528228	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.26569577813692E-5	0.0
18	59203714	A	C	18	61536481	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.79492053851046E-5	0.0
18	59203714	A	G	18	61536481	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.92969983668483E-5	0.006
18	59203714	A	T	18	61536481	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.68904076410993E-5	0.0
18	59203715	T	A	18	61536482	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999968579895208	0.976
18	59203715	T	C	18	61536482	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.249326579602746	0.32
18	59203715	T	G	18	61536482	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999970306394924	0.952
18	59203716	G	A	18	61536483	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.44419843971736E-5	0.072
18	59203716	G	C	18	61536483	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.44862977466056E-5	0.034
18	59203716	G	T	18	61536483	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.34896905086289E-5	0.03
18	59203717	T	A	18	61536484	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999533152645021	0.92
18	59203717	T	C	18	61536484	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.692847534096433	0.446
18	59203717	T	G	18	61536484	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999788894481607	0.94
18	59203718	T	A	18	61536485	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0145598157097302	0.224
18	59203718	T	C	18	61536485	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.940813114309E-5	0.0
18	59203718	T	G	18	61536485	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0158113243190469	0.242
18	59203719	T	A	18	61536486	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997959690792013	0.896
18	59203719	T	C	18	61536486	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.203886450763297	0.354
18	59203719	T	G	18	61536486	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.996649928165493	0.796
18	59203720	C	A	18	61536487	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.80331679045439E-4	0.09
18	59203720	C	G	18	61536487	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00131179945338018	0.106
18	59203720	C	T	18	61536487	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.42026469925763E-5	0.002
18	59203721	T	A	18	61536488	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999801029470746	0.948
18	59203721	T	C	18	61536488	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0105664486680773	0.092
18	59203721	T	G	18	61536488	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.389519910623181	0.43
18	59203722	G	A	18	61536489	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.50907465318212E-5	0.0
18	59203722	G	C	18	61536489	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.00778042743128E-5	0.0
18	59203722	G	T	18	61536489	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.88231747345478E-5	0.0
18	59203723	C	A	18	61536490	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.995986268901157	0.894
18	59203723	C	G	18	61536490	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999896799099632	0.934
18	59203723	C	T	18	61536490	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0188380744199904	0.064
18	59203724	A	C	18	61536491	y	y	splicing	CDH20(NM_031891:exon7:c.1272-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1272-2A>C;ENST00000538374:exon8:c.1272-2A>C;ENST00000536675:exon7:c.1272-2A>C)	.	.	0.999988247793601	0.928
18	59203724	A	G	18	61536491	y	y	splicing	CDH20(NM_031891:exon7:c.1272-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1272-2A>G;ENST00000538374:exon8:c.1272-2A>G;ENST00000536675:exon7:c.1272-2A>G)	.	.	0.999988247793601	0.928
18	59203724	A	T	18	61536491	y	y	splicing	CDH20(NM_031891:exon7:c.1272-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1272-2A>T;ENST00000538374:exon8:c.1272-2A>T;ENST00000536675:exon7:c.1272-2A>T)	.	.	0.999988247793601	0.928
18	59203725	G	A	18	61536492	y	y	splicing	CDH20(NM_031891:exon7:c.1272-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1272-1G>A;ENST00000538374:exon8:c.1272-1G>A;ENST00000536675:exon7:c.1272-1G>A)	.	.	0.999985532734767	0.938
18	59203725	G	C	18	61536492	y	y	splicing	CDH20(NM_031891:exon7:c.1272-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1272-1G>C;ENST00000538374:exon8:c.1272-1G>C;ENST00000536675:exon7:c.1272-1G>C)	.	.	0.999985532734767	0.938
18	59203725	G	T	18	61536492	y	y	splicing	CDH20(NM_031891:exon7:c.1272-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1272-1G>T;ENST00000538374:exon8:c.1272-1G>T;ENST00000536675:exon7:c.1272-1G>T)	.	.	0.999985532734767	0.938
18	59203726	A	C	18	61536493	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.A1272C:p.R424S;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.A1272C:p.R424S;ENSG00000101542:ENST00000262717:exon8:c.A1272C:p.R424S;ENSG00000101542:ENST00000536675:exon7:c.A1272C:p.R424S;	6.73362381166381E-4	0.198
18	59203726	A	G	18	61536493	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon7:c.A1272G:p.R424R;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.A1272G:p.R424R;ENSG00000101542:ENST00000262717:exon8:c.A1272G:p.R424R;ENSG00000101542:ENST00000536675:exon7:c.A1272G:p.R424R;	1.87963525456325E-4	0.0
18	59203726	A	T	18	61536493	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.A1272T:p.R424S;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.A1272T:p.R424S;ENSG00000101542:ENST00000262717:exon8:c.A1272T:p.R424S;ENSG00000101542:ENST00000536675:exon7:c.A1272T:p.R424S;	0.00129258627996462	0.266
18	59203727	T	A	18	61536494	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.T1273A:p.Y425N;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.T1273A:p.Y425N;ENSG00000101542:ENST00000262717:exon8:c.T1273A:p.Y425N;ENSG00000101542:ENST00000536675:exon7:c.T1273A:p.Y425N;	0.830320399206347	0.46
18	59203727	T	C	18	61536494	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.T1273C:p.Y425H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.T1273C:p.Y425H;ENSG00000101542:ENST00000262717:exon8:c.T1273C:p.Y425H;ENSG00000101542:ENST00000536675:exon7:c.T1273C:p.Y425H;	0.500373046218866	0.376
18	59203727	T	G	18	61536494	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.T1273G:p.Y425D;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.T1273G:p.Y425D;ENSG00000101542:ENST00000262717:exon8:c.T1273G:p.Y425D;ENSG00000101542:ENST00000536675:exon7:c.T1273G:p.Y425D;	0.710911627981874	0.494
18	59203860	T	A	18	61536627	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.T1406A:p.M469K;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.T1406A:p.M469K;ENSG00000101542:ENST00000262717:exon8:c.T1406A:p.M469K;ENSG00000101542:ENST00000536675:exon7:c.T1406A:p.M469K;	0.00178359435950077	0.006
18	59203860	T	C	18	61536627	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.T1406C:p.M469T;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.T1406C:p.M469T;ENSG00000101542:ENST00000262717:exon8:c.T1406C:p.M469T;ENSG00000101542:ENST00000536675:exon7:c.T1406C:p.M469T;	8.2347377388889E-4	0.0
18	59203860	T	G	18	61536627	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.T1406G:p.M469R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.T1406G:p.M469R;ENSG00000101542:ENST00000262717:exon8:c.T1406G:p.M469R;ENSG00000101542:ENST00000536675:exon7:c.T1406G:p.M469R;	0.00438389892661459	0.02
18	59203861	G	A	18	61536628	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.G1407A:p.M469I;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.G1407A:p.M469I;ENSG00000101542:ENST00000262717:exon8:c.G1407A:p.M469I;ENSG00000101542:ENST00000536675:exon7:c.G1407A:p.M469I;	0.00202462169941605	0.084
18	59203861	G	C	18	61536628	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.G1407C:p.M469I;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.G1407C:p.M469I;ENSG00000101542:ENST00000262717:exon8:c.G1407C:p.M469I;ENSG00000101542:ENST00000536675:exon7:c.G1407C:p.M469I;	0.0021450876874378	0.07
18	59203861	G	T	18	61536628	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.G1407T:p.M469I;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.G1407T:p.M469I;ENSG00000101542:ENST00000262717:exon8:c.G1407T:p.M469I;ENSG00000101542:ENST00000536675:exon7:c.G1407T:p.M469I;	0.00912669383251792	0.136
18	59203862	A	C	18	61536629	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.A1408C:p.N470H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.A1408C:p.N470H;ENSG00000101542:ENST00000262717:exon8:c.A1408C:p.N470H;ENSG00000101542:ENST00000536675:exon7:c.A1408C:p.N470H;	0.0318878651272112	0.144
18	59203862	A	G	18	61536629	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.A1408G:p.N470D;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.A1408G:p.N470D;ENSG00000101542:ENST00000262717:exon8:c.A1408G:p.N470D;ENSG00000101542:ENST00000536675:exon7:c.A1408G:p.N470D;	4.73971894142371E-4	0.052
18	59203862	A	T	18	61536629	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon7:c.A1408T:p.N470Y;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon8:c.A1408T:p.N470Y;ENSG00000101542:ENST00000262717:exon8:c.A1408T:p.N470Y;ENSG00000101542:ENST00000536675:exon7:c.A1408T:p.N470Y;	0.104342216284927	0.42
18	59203863	G	A	18	61536630	y	y	splicing	CDH20(NM_031891:exon7:c.1408+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1408+1G>A;ENST00000538374:exon8:c.1408+1G>A;ENST00000536675:exon7:c.1408+1G>A)	.	.	0.999985532734767	0.936
18	59203863	G	C	18	61536630	y	y	splicing	CDH20(NM_031891:exon7:c.1408+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1408+1G>C;ENST00000538374:exon8:c.1408+1G>C;ENST00000536675:exon7:c.1408+1G>C)	.	.	0.999985532734767	0.936
18	59203863	G	T	18	61536630	y	y	splicing	CDH20(NM_031891:exon7:c.1408+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1408+1G>T;ENST00000538374:exon8:c.1408+1G>T;ENST00000536675:exon7:c.1408+1G>T)	.	.	0.999985532734767	0.936
18	59203864	T	A	18	61536631	y	y	splicing	CDH20(NM_031891:exon7:c.1408+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1408+2T>A;ENST00000538374:exon8:c.1408+2T>A;ENST00000536675:exon7:c.1408+2T>A)	.	.	0.999988247793601	0.928
18	59203864	T	C	18	61536631	y	y	splicing	CDH20(NM_031891:exon7:c.1408+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1408+2T>C;ENST00000538374:exon8:c.1408+2T>C;ENST00000536675:exon7:c.1408+2T>C)	.	.	0.998444092642356	0.81
18	59203864	T	G	18	61536631	y	y	splicing	CDH20(NM_031891:exon7:c.1408+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon8:c.1408+2T>G;ENST00000538374:exon8:c.1408+2T>G;ENST00000536675:exon7:c.1408+2T>G)	.	.	0.999988247793601	0.928
18	59203865	A	C	18	61536632	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999820186278865	0.958
18	59203865	A	G	18	61536632	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.955867995706723	0.632
18	59203865	A	T	18	61536632	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999807272635446	0.99
18	59203866	A	C	18	61536633	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999451359894212	0.904
18	59203866	A	G	18	61536633	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998898131141704	0.934
18	59203866	A	T	18	61536633	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998726256966243	0.95
18	59203867	G	A	18	61536634	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999965845723167	1.0
18	59203867	G	C	18	61536634	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999965845723167	0.978
18	59203867	G	T	18	61536634	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999952392414962	0.976
18	59203868	T	A	18	61536635	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.995178591827854	0.83
18	59203868	T	C	18	61536635	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998208270441845	0.952
18	59203868	T	G	18	61536635	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.996766587670965	0.924
18	59203869	A	C	18	61536636	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00543471551745814	0.05
18	59203869	A	G	18	61536636	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00543471551745814	0.038
18	59203869	A	T	18	61536636	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0060429995703305	0.016
18	59203870	G	A	18	61536637	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.56748397010634E-4	0.004
18	59203870	G	C	18	61536637	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.67894152125472E-4	0.01
18	59203870	G	T	18	61536637	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.85353709924517E-4	0.008
18	59206245	T	A	18	61539012	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999905052809458	0.936
18	59206245	T	C	18	61539012	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.44642946796271E-5	0.04
18	59206245	T	G	18	61539012	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.715343288336595	0.526
18	59206246	G	A	18	61539013	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0240105346587054	0.148
18	59206246	G	C	18	61539013	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00972820800941455	0.156
18	59206246	G	T	18	61539013	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00885710510098963	0.198
18	59206247	T	A	18	61539014	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.553612676406593	0.44
18	59206247	T	C	18	61539014	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.4545227293928E-5	0.034
18	59206247	T	G	18	61539014	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.702308194474308	0.462
18	59206248	T	A	18	61539015	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997807151916637	0.89
18	59206248	T	C	18	61539015	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.3479213728614	0.396
18	59206248	T	G	18	61539015	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997555033469637	0.856
18	59206249	C	A	18	61539016	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0019281549960577	0.034
18	59206249	C	G	18	61539016	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.26878956054878E-4	0.022
18	59206249	C	T	18	61539016	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.79259620270404E-5	0.0
18	59206250	C	A	18	61539017	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00223394429510521	0.092
18	59206250	C	G	18	61539017	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00197919902642656	0.062
18	59206250	C	T	18	61539017	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.02601284751913E-5	0.01
18	59206251	C	A	18	61539018	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.166044699198364	0.354
18	59206251	C	G	18	61539018	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.10690185860459	0.348
18	59206251	C	T	18	61539018	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.20864925241574E-4	0.078
18	59206252	T	A	18	61539019	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.996022694491085	0.874
18	59206252	T	C	18	61539019	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.143913730993057	0.332
18	59206252	T	G	18	61539019	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.979426810152842	0.842
18	59206253	T	A	18	61539020	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.28798218555067E-5	0.0
18	59206253	T	C	18	61539020	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.29774025990594E-5	0.0
18	59206253	T	G	18	61539020	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.6832436350494E-5	0.0
18	59206254	T	A	18	61539021	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.954996619944818	0.696
18	59206254	T	C	18	61539021	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00308992887896925	0.048
18	59206254	T	G	18	61539021	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.99964403159801	0.93
18	59206255	A	C	18	61539022	y	y	splicing	CDH20(NM_031891:exon8:c.1409-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1409-2A>C;ENST00000538374:exon9:c.1409-2A>C;ENST00000536675:exon8:c.1409-2A>C)	.	.	0.999988247793601	0.93
18	59206255	A	G	18	61539022	y	y	splicing	CDH20(NM_031891:exon8:c.1409-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1409-2A>G;ENST00000538374:exon9:c.1409-2A>G;ENST00000536675:exon8:c.1409-2A>G)	.	.	0.999988247793601	0.93
18	59206255	A	T	18	61539022	y	y	splicing	CDH20(NM_031891:exon8:c.1409-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1409-2A>T;ENST00000538374:exon9:c.1409-2A>T;ENST00000536675:exon8:c.1409-2A>T)	.	.	0.999988247793601	0.93
18	59206256	G	A	18	61539023	y	y	splicing	CDH20(NM_031891:exon8:c.1409-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1409-1G>A;ENST00000538374:exon9:c.1409-1G>A;ENST00000536675:exon8:c.1409-1G>A)	.	.	0.999990361384395	0.938
18	59206256	G	C	18	61539023	y	y	splicing	CDH20(NM_031891:exon8:c.1409-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1409-1G>C;ENST00000538374:exon9:c.1409-1G>C;ENST00000536675:exon8:c.1409-1G>C)	.	.	0.999990361384395	0.938
18	59206256	G	T	18	61539023	y	y	splicing	CDH20(NM_031891:exon8:c.1409-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1409-1G>T;ENST00000538374:exon9:c.1409-1G>T;ENST00000536675:exon8:c.1409-1G>T)	.	.	0.999990361384395	0.938
18	59206257	A	C	18	61539024	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.A1409C:p.N470T;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.A1409C:p.N470T;ENSG00000101542:ENST00000262717:exon9:c.A1409C:p.N470T;ENSG00000101542:ENST00000536675:exon8:c.A1409C:p.N470T;	0.780699322762394	0.648
18	59206257	A	G	18	61539024	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.A1409G:p.N470S;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.A1409G:p.N470S;ENSG00000101542:ENST00000262717:exon9:c.A1409G:p.N470S;ENSG00000101542:ENST00000536675:exon8:c.A1409G:p.N470S;	0.24462033551922	0.456
18	59206257	A	T	18	61539024	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.A1409T:p.N470I;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.A1409T:p.N470I;ENSG00000101542:ENST00000262717:exon9:c.A1409T:p.N470I;ENSG00000101542:ENST00000536675:exon8:c.A1409T:p.N470I;	0.780699322762394	0.592
18	59206258	C	A	18	61539025	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.C1410A:p.N470K;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.C1410A:p.N470K;ENSG00000101542:ENST00000262717:exon9:c.C1410A:p.N470K;ENSG00000101542:ENST00000536675:exon8:c.C1410A:p.N470K;	3.63548459988743E-4	0.004
18	59206258	C	G	18	61539025	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.C1410G:p.N470K;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.C1410G:p.N470K;ENSG00000101542:ENST00000262717:exon9:c.C1410G:p.N470K;ENSG00000101542:ENST00000536675:exon8:c.C1410G:p.N470K;	1.48071683494968E-4	0.008
18	59206258	C	T	18	61539025	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon8:c.C1410T:p.N470N;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.C1410T:p.N470N;ENSG00000101542:ENST00000262717:exon9:c.C1410T:p.N470N;ENSG00000101542:ENST00000536675:exon8:c.C1410T:p.N470N;	3.60409688568729E-4	0.0
18	59206376	C	A	18	61539143	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.C1528A:p.Q510K;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.C1528A:p.Q510K;ENSG00000101542:ENST00000262717:exon9:c.C1528A:p.Q510K;ENSG00000101542:ENST00000536675:exon8:c.C1528A:p.Q510K;	0.931309228911486	0.762
18	59206376	C	G	18	61539143	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.C1528G:p.Q510E;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.C1528G:p.Q510E;ENSG00000101542:ENST00000262717:exon9:c.C1528G:p.Q510E;ENSG00000101542:ENST00000536675:exon8:c.C1528G:p.Q510E;	0.929408619682861	0.642
18	59206376	C	T	18	61539143	y	y	exonic	CDH20	stopgain SNV	CDH20:NM_031891:exon8:c.C1528T:p.Q510X;	exonic	ENSG00000101542	stopgain SNV	ENSG00000101542:ENST00000538374:exon9:c.C1528T:p.Q510X;ENSG00000101542:ENST00000262717:exon9:c.C1528T:p.Q510X;ENSG00000101542:ENST00000536675:exon8:c.C1528T:p.Q510X;	0.998265402805002	0.826
18	59206377	A	C	18	61539144	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.A1529C:p.Q510P;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.A1529C:p.Q510P;ENSG00000101542:ENST00000262717:exon9:c.A1529C:p.Q510P;ENSG00000101542:ENST00000536675:exon8:c.A1529C:p.Q510P;	0.993667088634791	0.85
18	59206377	A	G	18	61539144	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.A1529G:p.Q510R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.A1529G:p.Q510R;ENSG00000101542:ENST00000262717:exon9:c.A1529G:p.Q510R;ENSG00000101542:ENST00000536675:exon8:c.A1529G:p.Q510R;	0.998330582633407	0.97
18	59206377	A	T	18	61539144	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.A1529T:p.Q510L;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.A1529T:p.Q510L;ENSG00000101542:ENST00000262717:exon9:c.A1529T:p.Q510L;ENSG00000101542:ENST00000536675:exon8:c.A1529T:p.Q510L;	0.997546631428813	0.746
18	59206378	G	A	18	61539145	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon8:c.G1530A:p.Q510Q;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.G1530A:p.Q510Q;ENSG00000101542:ENST00000262717:exon9:c.G1530A:p.Q510Q;ENSG00000101542:ENST00000536675:exon8:c.G1530A:p.Q510Q;	0.9990474211358	0.948
18	59206378	G	C	18	61539145	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.G1530C:p.Q510H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.G1530C:p.Q510H;ENSG00000101542:ENST00000262717:exon9:c.G1530C:p.Q510H;ENSG00000101542:ENST00000536675:exon8:c.G1530C:p.Q510H;	0.999945675433753	0.944
18	59206378	G	T	18	61539145	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon8:c.G1530T:p.Q510H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon9:c.G1530T:p.Q510H;ENSG00000101542:ENST00000262717:exon9:c.G1530T:p.Q510H;ENSG00000101542:ENST00000536675:exon8:c.G1530T:p.Q510H;	0.999750142227727	0.958
18	59206379	G	A	18	61539146	y	y	splicing	CDH20(NM_031891:exon8:c.1530+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1530+1G>A;ENST00000538374:exon9:c.1530+1G>A;ENST00000536675:exon8:c.1530+1G>A)	.	.	0.999990361384395	0.938
18	59206379	G	C	18	61539146	y	y	splicing	CDH20(NM_031891:exon8:c.1530+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1530+1G>C;ENST00000538374:exon9:c.1530+1G>C;ENST00000536675:exon8:c.1530+1G>C)	.	.	0.999990361384395	0.938
18	59206379	G	T	18	61539146	y	y	splicing	CDH20(NM_031891:exon8:c.1530+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1530+1G>T;ENST00000538374:exon9:c.1530+1G>T;ENST00000536675:exon8:c.1530+1G>T)	.	.	0.999990361384395	0.938
18	59206380	T	A	18	61539147	y	y	splicing	CDH20(NM_031891:exon8:c.1530+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1530+2T>A;ENST00000538374:exon9:c.1530+2T>A;ENST00000536675:exon8:c.1530+2T>A)	.	.	0.999988247793601	0.93
18	59206380	T	C	18	61539147	y	y	splicing	CDH20(NM_031891:exon8:c.1530+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1530+2T>C;ENST00000538374:exon9:c.1530+2T>C;ENST00000536675:exon8:c.1530+2T>C)	.	.	0.994669226766359	0.662
18	59206380	T	G	18	61539147	y	y	splicing	CDH20(NM_031891:exon8:c.1530+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon9:c.1530+2T>G;ENST00000538374:exon9:c.1530+2T>G;ENST00000536675:exon8:c.1530+2T>G)	.	.	0.999988247793601	0.93
18	59206381	A	C	18	61539148	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.996205345010425	0.744
18	59206381	A	G	18	61539148	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.44893616283116	0.32
18	59206381	A	T	18	61539148	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.974374828481496	0.752
18	59206382	A	C	18	61539149	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.151802774267122	0.32
18	59206382	A	G	18	61539149	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.337366895866209	0.33
18	59206382	A	T	18	61539149	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.165566830122401	0.254
18	59206383	G	A	18	61539150	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.969259917687895	0.662
18	59206383	G	C	18	61539150	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.698888067818602	0.524
18	59206383	G	T	18	61539150	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.89166466714705	0.598
18	59206384	G	A	18	61539151	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.83649570864784E-5	0.012
18	59206384	G	C	18	61539151	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.2508026476593E-5	0.028
18	59206384	G	T	18	61539151	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.99732777589041E-5	0.032
18	59206385	T	A	18	61539152	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.81474896170976E-5	0.0
18	59206385	T	C	18	61539152	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.81474896170976E-5	0.0
18	59206385	T	G	18	61539152	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.81474896170976E-5	0.0
18	59206386	G	A	18	61539153	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.81474896170976E-5	0.002
18	59206386	G	C	18	61539153	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.17486155721189E-5	0.002
18	59206386	G	T	18	61539153	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.81474896170976E-5	0.002
18	59212248	T	A	18	61545015	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.993917180924172	0.76
18	59212248	T	C	18	61545015	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.884711383408352	0.548
18	59212248	T	G	18	61545015	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.991468080328272	0.764
18	59212249	C	A	18	61545016	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.281878073926071	0.316
18	59212249	C	G	18	61545016	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.335880502850952	0.208
18	59212249	C	T	18	61545016	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0488778749023712	0.25
18	59212250	C	A	18	61545017	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00141568264270132	0.2
18	59212250	C	G	18	61545017	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00136244627998618	0.102
18	59212250	C	T	18	61545017	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.8115044396539E-5	0.102
18	59212251	C	A	18	61545018	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0410645713385864	0.264
18	59212251	C	G	18	61545018	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0166683845363237	0.138
18	59212251	C	T	18	61545018	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00513014163263502	0.136
18	59212252	T	A	18	61545019	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00333006296543718	0.044
18	59212252	T	C	18	61545019	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00150513167680036	0.032
18	59212252	T	G	18	61545019	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00820677467343761	0.088
18	59212253	C	A	18	61545020	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0251787457686808	0.088
18	59212253	C	G	18	61545020	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0220384668678583	0.078
18	59212253	C	T	18	61545020	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.80893469203005E-5	0.008
18	59212254	C	A	18	61545021	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00529500763162499	0.27
18	59212254	C	G	18	61545021	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00504222589127386	0.26
18	59212254	C	T	18	61545021	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.44638293587517E-5	0.046
18	59212255	C	A	18	61545022	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0128006040403098	0.076
18	59212255	C	G	18	61545022	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00784794361999711	0.088
18	59212255	C	T	18	61545022	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.16751275415416E-4	0.008
18	59212256	T	A	18	61545023	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.1070225182526E-4	0.012
18	59212256	T	C	18	61545023	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	9.5067152838004E-5	0.018
18	59212256	T	G	18	61545023	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.88313808016926E-4	0.016
18	59212257	C	A	18	61545024	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.979050433650781	0.788
18	59212257	C	G	18	61545024	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999847634972693	0.95
18	59212257	C	T	18	61545024	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00552735755763232	0.092
18	59212258	A	C	18	61545025	y	y	splicing	CDH20(NM_031891:exon9:c.1531-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1531-2A>C;ENST00000538374:exon10:c.1531-2A>C;ENST00000536675:exon9:c.1531-2A>C)	.	.	0.999988247793601	0.93
18	59212258	A	G	18	61545025	y	y	splicing	CDH20(NM_031891:exon9:c.1531-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1531-2A>G;ENST00000538374:exon10:c.1531-2A>G;ENST00000536675:exon9:c.1531-2A>G)	.	.	0.999988247793601	0.93
18	59212258	A	T	18	61545025	y	y	splicing	CDH20(NM_031891:exon9:c.1531-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1531-2A>T;ENST00000538374:exon10:c.1531-2A>T;ENST00000536675:exon9:c.1531-2A>T)	.	.	0.999988247793601	0.93
18	59212259	G	A	18	61545026	y	y	splicing	CDH20(NM_031891:exon9:c.1531-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1531-1G>A;ENST00000538374:exon10:c.1531-1G>A;ENST00000536675:exon9:c.1531-1G>A)	.	.	0.999990361384395	0.938
18	59212259	G	C	18	61545026	y	y	splicing	CDH20(NM_031891:exon9:c.1531-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1531-1G>C;ENST00000538374:exon10:c.1531-1G>C;ENST00000536675:exon9:c.1531-1G>C)	.	.	0.999990361384395	0.938
18	59212259	G	T	18	61545026	y	y	splicing	CDH20(NM_031891:exon9:c.1531-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1531-1G>T;ENST00000538374:exon10:c.1531-1G>T;ENST00000536675:exon9:c.1531-1G>T)	.	.	0.999990361384395	0.938
18	59212260	C	A	18	61545027	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.C1531A:p.L511M;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.C1531A:p.L511M;ENSG00000101542:ENST00000262717:exon10:c.C1531A:p.L511M;ENSG00000101542:ENST00000536675:exon9:c.C1531A:p.L511M;	5.2803120961577E-4	0.402
18	59212260	C	G	18	61545027	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.C1531G:p.L511V;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.C1531G:p.L511V;ENSG00000101542:ENST00000262717:exon10:c.C1531G:p.L511V;ENSG00000101542:ENST00000536675:exon9:c.C1531G:p.L511V;	2.60118350445653E-4	0.256
18	59212260	C	T	18	61545027	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon9:c.C1531T:p.L511L;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.C1531T:p.L511L;ENSG00000101542:ENST00000262717:exon10:c.C1531T:p.L511L;ENSG00000101542:ENST00000536675:exon9:c.C1531T:p.L511L;	0.0015405151233748	0.102
18	59212261	T	A	18	61545028	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.T1532A:p.L511Q;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.T1532A:p.L511Q;ENSG00000101542:ENST00000262717:exon10:c.T1532A:p.L511Q;ENSG00000101542:ENST00000536675:exon9:c.T1532A:p.L511Q;	0.920244095731789	0.538
18	59212261	T	C	18	61545028	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.T1532C:p.L511P;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.T1532C:p.L511P;ENSG00000101542:ENST00000262717:exon10:c.T1532C:p.L511P;ENSG00000101542:ENST00000536675:exon9:c.T1532C:p.L511P;	0.842342435135551	0.51
18	59212261	T	G	18	61545028	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.T1532G:p.L511R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.T1532G:p.L511R;ENSG00000101542:ENST00000262717:exon10:c.T1532G:p.L511R;ENSG00000101542:ENST00000536675:exon9:c.T1532G:p.L511R;	0.934652622071726	0.53
18	59212375	A	C	18	61545142	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.A1646C:p.Q549P;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.A1646C:p.Q549P;ENSG00000101542:ENST00000262717:exon10:c.A1646C:p.Q549P;ENSG00000101542:ENST00000536675:exon9:c.A1646C:p.Q549P;	0.849803328794899	0.69
18	59212375	A	G	18	61545142	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.A1646G:p.Q549R;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.A1646G:p.Q549R;ENSG00000101542:ENST00000262717:exon10:c.A1646G:p.Q549R;ENSG00000101542:ENST00000536675:exon9:c.A1646G:p.Q549R;	0.00306162405164631	0.116
18	59212375	A	T	18	61545142	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.A1646T:p.Q549L;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.A1646T:p.Q549L;ENSG00000101542:ENST00000262717:exon10:c.A1646T:p.Q549L;ENSG00000101542:ENST00000536675:exon9:c.A1646T:p.Q549L;	0.995879937353096	0.774
18	59212376	A	C	18	61545143	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.A1647C:p.Q549H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.A1647C:p.Q549H;ENSG00000101542:ENST00000262717:exon10:c.A1647C:p.Q549H;ENSG00000101542:ENST00000536675:exon9:c.A1647C:p.Q549H;	0.998916687255207	0.958
18	59212376	A	G	18	61545143	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon9:c.A1647G:p.Q549Q;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.A1647G:p.Q549Q;ENSG00000101542:ENST00000262717:exon10:c.A1647G:p.Q549Q;ENSG00000101542:ENST00000536675:exon9:c.A1647G:p.Q549Q;	0.99769091112389	0.976
18	59212376	A	T	18	61545143	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.A1647T:p.Q549H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.A1647T:p.Q549H;ENSG00000101542:ENST00000262717:exon10:c.A1647T:p.Q549H;ENSG00000101542:ENST00000536675:exon9:c.A1647T:p.Q549H;	0.999900670763307	0.996
18	59212377	G	A	18	61545144	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.G1648A:p.D550N;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.G1648A:p.D550N;ENSG00000101542:ENST00000262717:exon10:c.G1648A:p.D550N;ENSG00000101542:ENST00000536675:exon9:c.G1648A:p.D550N;	0.999994222381975	1.0
18	59212377	G	C	18	61545144	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.G1648C:p.D550H;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.G1648C:p.D550H;ENSG00000101542:ENST00000262717:exon10:c.G1648C:p.D550H;ENSG00000101542:ENST00000536675:exon9:c.G1648C:p.D550H;	0.999997643939171	0.998
18	59212377	G	T	18	61545144	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon9:c.G1648T:p.D550Y;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon10:c.G1648T:p.D550Y;ENSG00000101542:ENST00000262717:exon10:c.G1648T:p.D550Y;ENSG00000101542:ENST00000536675:exon9:c.G1648T:p.D550Y;	0.999993018555097	1.0
18	59212378	G	A	18	61545145	y	y	splicing	CDH20(NM_031891:exon9:c.1648+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1648+1G>A;ENST00000538374:exon10:c.1648+1G>A;ENST00000536675:exon9:c.1648+1G>A)	.	.	0.999990361384395	0.938
18	59212378	G	C	18	61545145	y	y	splicing	CDH20(NM_031891:exon9:c.1648+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1648+1G>C;ENST00000538374:exon10:c.1648+1G>C;ENST00000536675:exon9:c.1648+1G>C)	.	.	0.999990361384395	0.938
18	59212378	G	T	18	61545145	y	y	splicing	CDH20(NM_031891:exon9:c.1648+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1648+1G>T;ENST00000538374:exon10:c.1648+1G>T;ENST00000536675:exon9:c.1648+1G>T)	.	.	0.999990361384395	0.938
18	59212379	T	A	18	61545146	y	y	splicing	CDH20(NM_031891:exon9:c.1648+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1648+2T>A;ENST00000538374:exon10:c.1648+2T>A;ENST00000536675:exon9:c.1648+2T>A)	.	.	0.999988247793601	0.93
18	59212379	T	C	18	61545146	y	y	splicing	CDH20(NM_031891:exon9:c.1648+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1648+2T>C;ENST00000538374:exon10:c.1648+2T>C;ENST00000536675:exon9:c.1648+2T>C)	.	.	0.995320650369382	0.706
18	59212379	T	G	18	61545146	y	y	splicing	CDH20(NM_031891:exon9:c.1648+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon10:c.1648+2T>G;ENST00000538374:exon10:c.1648+2T>G;ENST00000536675:exon9:c.1648+2T>G)	.	.	0.999988247793601	0.93
18	59212380	A	C	18	61545147	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999878561294922	0.962
18	59212380	A	G	18	61545147	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998807052409122	0.962
18	59212380	A	T	18	61545147	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999885139439939	0.966
18	59212381	A	C	18	61545148	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.657287123846848	0.632
18	59212381	A	G	18	61545148	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.864279379064938	0.706
18	59212381	A	T	18	61545148	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.844590300300767	0.638
18	59212382	T	A	18	61545149	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.3803271543735E-4	0.004
18	59212382	T	C	18	61545149	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.11210800056009E-5	0.008
18	59212382	T	G	18	61545149	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.18380054066848E-4	0.05
18	59212383	C	A	18	61545150	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.20943470410591E-4	0.002
18	59212383	C	G	18	61545150	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.05473546030546E-4	0.006
18	59212383	C	T	18	61545150	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.40003428404147E-5	0.0
18	59212384	A	C	18	61545151	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.0539299881311E-4	0.012
18	59212384	A	G	18	61545151	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.19115850207418E-4	0.006
18	59212384	A	T	18	61545151	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	3.30324496049084E-4	0.07
18	59212385	G	A	18	61545152	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.65963889844777E-5	0.0
18	59212385	G	C	18	61545152	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.9987801423134E-5	0.0
18	59212385	G	T	18	61545152	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.9987801423134E-5	0.0
18	59217199	T	A	18	61549966	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0165660594726308	0.166
18	59217199	T	C	18	61549966	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	7.64102062667884E-4	0.01
18	59217199	T	G	18	61549966	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0138908968592572	0.246
18	59217200	C	A	18	61549967	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	4.49700942372243E-4	0.032
18	59217200	C	G	18	61549967	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	5.97301035220504E-4	0.048
18	59217200	C	T	18	61549967	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	1.55908716824608E-5	0.002
18	59217201	C	A	18	61549968	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	4.5630354294969E-4	0.074
18	59217201	C	G	18	61549968	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	7.01948617337217E-5	0.012
18	59217201	C	T	18	61549968	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	3.53606845117133E-5	0.022
18	59217202	T	A	18	61549969	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	3.63894792627168E-4	0.038
18	59217202	T	C	18	61549969	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	8.19236703778089E-5	0.0
18	59217202	T	G	18	61549969	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	2.72333070200661E-4	0.032
18	59217203	T	A	18	61549970	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.00111250637414376	0.052
18	59217203	T	C	18	61549970	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	1.48837629690241E-5	0.0
18	59217203	T	G	18	61549970	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	2.68186719162605E-4	0.024
18	59217204	C	A	18	61549971	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0011901532557103	0.068
18	59217204	C	G	18	61549971	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	2.83843558687866E-4	0.006
18	59217204	C	T	18	61549971	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	2.24815854608595E-5	0.0
18	59217205	T	A	18	61549972	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0082409998384928	0.088
18	59217205	T	C	18	61549972	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	2.40646435400168E-5	0.006
18	59217205	T	G	18	61549972	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0266298249817596	0.194
18	59217206	T	A	18	61549973	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0431097980592582	0.318
18	59217206	T	C	18	61549973	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.00101603376764404	0.102
18	59217206	T	G	18	61549973	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0754540096466654	0.33
18	59217207	T	A	18	61549974	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.00143178607023412	0.064
18	59217207	T	C	18	61549974	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	1.64338161431529E-4	0.006
18	59217207	T	G	18	61549974	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	1.52879822941447E-4	0.004
18	59217208	C	A	18	61549975	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.999743372381385	0.916
18	59217208	C	G	18	61549975	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.999893292025076	0.87
18	59217208	C	T	18	61549975	y	y	intronic	CDH20	.	.	UTR5	ENSG00000101542	.	.	0.0887185595777617	0.08
18	59217209	A	C	18	61549976	y	y	splicing	CDH20(NM_031891:exon10:c.1649-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1649-2A>C;ENST00000538374:exon11:c.1649-2A>C;ENST00000536675:exon10:c.1649-2A>C)	.	.	0.999988247793601	0.928
18	59217209	A	G	18	61549976	y	y	splicing	CDH20(NM_031891:exon10:c.1649-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1649-2A>G;ENST00000538374:exon11:c.1649-2A>G;ENST00000536675:exon10:c.1649-2A>G)	.	.	0.999988247793601	0.928
18	59217209	A	T	18	61549976	y	y	splicing	CDH20(NM_031891:exon10:c.1649-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1649-2A>T;ENST00000538374:exon11:c.1649-2A>T;ENST00000536675:exon10:c.1649-2A>T)	.	.	0.999988247793601	0.928
18	59217210	G	A	18	61549977	y	y	splicing	CDH20(NM_031891:exon10:c.1649-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1649-1G>A;ENST00000538374:exon11:c.1649-1G>A;ENST00000536675:exon10:c.1649-1G>A)	.	.	0.999990361384395	0.938
18	59217210	G	C	18	61549977	y	y	splicing	CDH20(NM_031891:exon10:c.1649-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1649-1G>C;ENST00000538374:exon11:c.1649-1G>C;ENST00000536675:exon10:c.1649-1G>C)	.	.	0.999990361384395	0.938
18	59217210	G	T	18	61549977	y	y	splicing	CDH20(NM_031891:exon10:c.1649-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1649-1G>T;ENST00000538374:exon11:c.1649-1G>T;ENST00000536675:exon10:c.1649-1G>T)	.	.	0.999990361384395	0.938
18	59217211	A	C	18	61549978	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.A1649C:p.D550A;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.A1649C:p.D550A;ENSG00000101542:ENST00000262717:exon11:c.A1649C:p.D550A;ENSG00000101542:ENST00000536675:exon10:c.A1649C:p.D550A;	0.880977012141829	0.7
18	59217211	A	G	18	61549978	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.A1649G:p.D550G;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.A1649G:p.D550G;ENSG00000101542:ENST00000262717:exon11:c.A1649G:p.D550G;ENSG00000101542:ENST00000536675:exon10:c.A1649G:p.D550G;	0.746024077595885	0.716
18	59217211	A	T	18	61549978	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.A1649T:p.D550V;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.A1649T:p.D550V;ENSG00000101542:ENST00000262717:exon11:c.A1649T:p.D550V;ENSG00000101542:ENST00000536675:exon10:c.A1649T:p.D550V;	0.855915176883057	0.616
18	59217212	T	A	18	61549979	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.T1650A:p.D550E;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.T1650A:p.D550E;ENSG00000101542:ENST00000262717:exon11:c.T1650A:p.D550E;ENSG00000101542:ENST00000536675:exon10:c.T1650A:p.D550E;	0.0254070644486298	0.21
18	59217212	T	C	18	61549979	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon10:c.T1650C:p.D550D;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.T1650C:p.D550D;ENSG00000101542:ENST00000262717:exon11:c.T1650C:p.D550D;ENSG00000101542:ENST00000536675:exon10:c.T1650C:p.D550D;	0.0027865135284134	0.19
18	59217212	T	G	18	61549979	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.T1650G:p.D550E;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.T1650G:p.D550E;ENSG00000101542:ENST00000262717:exon11:c.T1650G:p.D550E;ENSG00000101542:ENST00000536675:exon10:c.T1650G:p.D550E;	0.0169170826983542	0.158
18	59217460	T	A	18	61550227	y	y	exonic	CDH20	stopgain SNV	CDH20:NM_031891:exon10:c.T1898A:p.L633X;	exonic	ENSG00000101542	stopgain SNV	ENSG00000101542:ENST00000538374:exon11:c.T1898A:p.L633X;ENSG00000101542:ENST00000262717:exon11:c.T1898A:p.L633X;ENSG00000101542:ENST00000587582:exon1:c.T89A:p.L30X;ENSG00000101542:ENST00000536675:exon10:c.T1898A:p.L633X;	0.74702229933833	0.778
18	59217460	T	C	18	61550227	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.T1898C:p.L633S;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.T1898C:p.L633S;ENSG00000101542:ENST00000262717:exon11:c.T1898C:p.L633S;ENSG00000101542:ENST00000587582:exon1:c.T89C:p.L30S;ENSG00000101542:ENST00000536675:exon10:c.T1898C:p.L633S;	0.676482151470728	0.724
18	59217460	T	G	18	61550227	y	y	exonic	CDH20	stopgain SNV	CDH20:NM_031891:exon10:c.T1898G:p.L633X;	exonic	ENSG00000101542	stopgain SNV	ENSG00000101542:ENST00000538374:exon11:c.T1898G:p.L633X;ENSG00000101542:ENST00000262717:exon11:c.T1898G:p.L633X;ENSG00000101542:ENST00000587582:exon1:c.T89G:p.L30X;ENSG00000101542:ENST00000536675:exon10:c.T1898G:p.L633X;	0.823789168205076	0.818
18	59217461	A	C	18	61550228	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.A1899C:p.L633F;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.A1899C:p.L633F;ENSG00000101542:ENST00000262717:exon11:c.A1899C:p.L633F;ENSG00000101542:ENST00000587582:exon1:c.A90C:p.L30F;ENSG00000101542:ENST00000536675:exon10:c.A1899C:p.L633F;	0.347299251880188	0.61
18	59217461	A	G	18	61550228	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon10:c.A1899G:p.L633L;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.A1899G:p.L633L;ENSG00000101542:ENST00000262717:exon11:c.A1899G:p.L633L;ENSG00000101542:ENST00000587582:exon1:c.A90G:p.L30L;ENSG00000101542:ENST00000536675:exon10:c.A1899G:p.L633L;	0.0432420762942379	0.262
18	59217461	A	T	18	61550228	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.A1899T:p.L633F;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.A1899T:p.L633F;ENSG00000101542:ENST00000262717:exon11:c.A1899T:p.L633F;ENSG00000101542:ENST00000587582:exon1:c.A90T:p.L30F;ENSG00000101542:ENST00000536675:exon10:c.A1899T:p.L633F;	0.21238090573892	0.516
18	59217462	G	A	18	61550229	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.G1900A:p.V634M;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.G1900A:p.V634M;ENSG00000101542:ENST00000262717:exon11:c.G1900A:p.V634M;ENSG00000101542:ENST00000587582:exon1:c.G91A:p.V31M;ENSG00000101542:ENST00000536675:exon10:c.G1900A:p.V634M;	0.999955833532868	0.99
18	59217462	G	C	18	61550229	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.G1900C:p.V634L;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.G1900C:p.V634L;ENSG00000101542:ENST00000262717:exon11:c.G1900C:p.V634L;ENSG00000101542:ENST00000587582:exon1:c.G91C:p.V31L;ENSG00000101542:ENST00000536675:exon10:c.G1900C:p.V634L;	0.999962742339905	0.958
18	59217462	G	T	18	61550229	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon10:c.G1900T:p.V634L;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon11:c.G1900T:p.V634L;ENSG00000101542:ENST00000262717:exon11:c.G1900T:p.V634L;ENSG00000101542:ENST00000587582:exon1:c.G91T:p.V31L;ENSG00000101542:ENST00000536675:exon10:c.G1900T:p.V634L;	0.999967542978969	0.976
18	59217463	G	A	18	61550230	y	y	splicing	CDH20(NM_031891:exon10:c.1900+1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1900+1G>A;ENST00000538374:exon11:c.1900+1G>A;ENST00000536675:exon10:c.1900+1G>A;ENST00000587582:exon1:c.91+1G>A)	.	.	0.999990361384395	0.938
18	59217463	G	C	18	61550230	y	y	splicing	CDH20(NM_031891:exon10:c.1900+1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1900+1G>C;ENST00000538374:exon11:c.1900+1G>C;ENST00000536675:exon10:c.1900+1G>C;ENST00000587582:exon1:c.91+1G>C)	.	.	0.999990361384395	0.938
18	59217463	G	T	18	61550230	y	y	splicing	CDH20(NM_031891:exon10:c.1900+1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1900+1G>T;ENST00000538374:exon11:c.1900+1G>T;ENST00000536675:exon10:c.1900+1G>T;ENST00000587582:exon1:c.91+1G>T)	.	.	0.999990361384395	0.938
18	59217464	T	A	18	61550231	y	y	splicing	CDH20(NM_031891:exon10:c.1900+2T>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1900+2T>A;ENST00000538374:exon11:c.1900+2T>A;ENST00000536675:exon10:c.1900+2T>A;ENST00000587582:exon1:c.91+2T>A)	.	.	0.999988247793601	0.93
18	59217464	T	C	18	61550231	y	y	splicing	CDH20(NM_031891:exon10:c.1900+2T>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1900+2T>C;ENST00000538374:exon11:c.1900+2T>C;ENST00000536675:exon10:c.1900+2T>C;ENST00000587582:exon1:c.91+2T>C)	.	.	0.999929727175276	0.86
18	59217464	T	G	18	61550231	y	y	splicing	CDH20(NM_031891:exon10:c.1900+2T>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon11:c.1900+2T>G;ENST00000538374:exon11:c.1900+2T>G;ENST00000536675:exon10:c.1900+2T>G;ENST00000587582:exon1:c.91+2T>G)	.	.	0.999988247793601	0.93
18	59217465	G	A	18	61550232	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.55175074749166E-5	0.002
18	59217465	G	C	18	61550232	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.16661683788933	0.38
18	59217465	G	T	18	61550232	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.22383145683399	0.424
18	59217466	A	C	18	61550233	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.985297924584981	0.756
18	59217466	A	G	18	61550233	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997341363125245	0.894
18	59217466	A	T	18	61550233	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.996089830857396	0.808
18	59217467	G	A	18	61550234	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999094445632222	0.894
18	59217467	G	C	18	61550234	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998668154835676	0.892
18	59217467	G	T	18	61550234	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998119619536955	0.854
18	59217468	T	A	18	61550235	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0695604966852125	0.342
18	59217468	T	C	18	61550235	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0106090113593229	0.238
18	59217468	T	G	18	61550235	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00186606923789502	0.19
18	59217469	A	C	18	61550236	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.38026458212474E-4	0.004
18	59217469	A	G	18	61550236	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.38026458212474E-4	0.008
18	59217469	A	T	18	61550236	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.13580459320917E-4	0.008
18	59217470	A	C	18	61550237	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.76074896990115E-5	0.002
18	59217470	A	G	18	61550237	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.76074896990115E-5	0.002
18	59217470	A	T	18	61550237	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.06624260319159E-4	0.002
18	59221411	T	A	18	61554178	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.997995607189114	0.98
18	59221411	T	C	18	61554178	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.8860095940554E-5	0.0
18	59221411	T	G	18	61554178	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0144934066428252	0.226
18	59221412	G	A	18	61554179	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	6.36303381781333E-5	0.05
18	59221412	G	C	18	61554179	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	8.34999318636917E-6	0.026
18	59221412	G	T	18	61554179	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.37549692584271E-5	0.024
18	59221413	T	A	18	61554180	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0255382308597029	0.286
18	59221413	T	C	18	61554180	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00178830481093774	0.078
18	59221413	T	G	18	61554180	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0134842901837817	0.332
18	59221414	T	A	18	61554181	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0256204607499152	0.242
18	59221414	T	C	18	61554181	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.55571012932329E-4	0.082
18	59221414	T	G	18	61554181	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0190640775075971	0.232
18	59221415	C	A	18	61554182	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.5870526590876E-4	0.024
18	59221415	C	G	18	61554182	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00149181352014265	0.036
18	59221415	C	T	18	61554182	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.6041955846168E-5	0.0
18	59221416	C	A	18	61554183	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0183662129370718	0.106
18	59221416	C	G	18	61554183	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0183662129370718	0.108
18	59221416	C	T	18	61554183	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	4.30895421100019E-5	0.028
18	59221417	T	A	18	61554184	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.998531643829464	0.964
18	59221417	T	C	18	61554184	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	2.55693483495331E-5	0.0
18	59221417	T	G	18	61554184	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.00548805650934702	0.158
18	59221418	G	A	18	61554185	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.071834574389788	0.56
18	59221418	G	C	18	61554185	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.80060975648285E-6	0.002
18	59221418	G	T	18	61554185	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	1.33684777350849E-5	0.0
18	59221419	G	A	18	61554186	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	7.1402548697359E-5	0.004
18	59221419	G	C	18	61554186	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	5.16376495523457E-5	0.004
18	59221419	G	T	18	61554186	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	9.22794261040097E-5	0.008
18	59221420	C	A	18	61554187	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999028175010907	0.902
18	59221420	C	G	18	61554187	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.999661419683401	0.92
18	59221420	C	T	18	61554187	y	y	intronic	CDH20	.	.	intronic	ENSG00000101542	.	.	0.0840589974759108	0.194
18	59221421	A	C	18	61554188	y	y	splicing	CDH20(NM_031891:exon11:c.1901-2A>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon12:c.1901-2A>C;ENST00000538374:exon12:c.1901-2A>C;ENST00000536675:exon11:c.1901-2A>C;ENST00000587582:exon2:c.92-2A>C)	.	.	0.999988247793601	0.946
18	59221421	A	G	18	61554188	y	y	splicing	CDH20(NM_031891:exon11:c.1901-2A>G)	.	.	splicing	ENSG00000101542(ENST00000262717:exon12:c.1901-2A>G;ENST00000538374:exon12:c.1901-2A>G;ENST00000536675:exon11:c.1901-2A>G;ENST00000587582:exon2:c.92-2A>G)	.	.	0.999988247793601	0.946
18	59221421	A	T	18	61554188	y	y	splicing	CDH20(NM_031891:exon11:c.1901-2A>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon12:c.1901-2A>T;ENST00000538374:exon12:c.1901-2A>T;ENST00000536675:exon11:c.1901-2A>T;ENST00000587582:exon2:c.92-2A>T)	.	.	0.999988247793601	0.94
18	59221422	G	A	18	61554189	y	y	splicing	CDH20(NM_031891:exon11:c.1901-1G>A)	.	.	splicing	ENSG00000101542(ENST00000262717:exon12:c.1901-1G>A;ENST00000538374:exon12:c.1901-1G>A;ENST00000536675:exon11:c.1901-1G>A;ENST00000587582:exon2:c.92-1G>A)	.	.	0.999990361384395	0.948
18	59221422	G	C	18	61554189	y	y	splicing	CDH20(NM_031891:exon11:c.1901-1G>C)	.	.	splicing	ENSG00000101542(ENST00000262717:exon12:c.1901-1G>C;ENST00000538374:exon12:c.1901-1G>C;ENST00000536675:exon11:c.1901-1G>C;ENST00000587582:exon2:c.92-1G>C)	.	.	0.999990361384395	0.948
18	59221422	G	T	18	61554189	y	y	splicing	CDH20(NM_031891:exon11:c.1901-1G>T)	.	.	splicing	ENSG00000101542(ENST00000262717:exon12:c.1901-1G>T;ENST00000538374:exon12:c.1901-1G>T;ENST00000536675:exon11:c.1901-1G>T;ENST00000587582:exon2:c.92-1G>T)	.	.	0.999990361384395	0.948
18	59221423	T	A	18	61554190	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon11:c.T1901A:p.V634E;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon12:c.T1901A:p.V634E;ENSG00000101542:ENST00000262717:exon12:c.T1901A:p.V634E;ENSG00000101542:ENST00000587582:exon2:c.T92A:p.V31E;ENSG00000101542:ENST00000536675:exon11:c.T1901A:p.V634E;	0.252767452492507	0.456
18	59221423	T	C	18	61554190	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon11:c.T1901C:p.V634A;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon12:c.T1901C:p.V634A;ENSG00000101542:ENST00000262717:exon12:c.T1901C:p.V634A;ENSG00000101542:ENST00000587582:exon2:c.T92C:p.V31A;ENSG00000101542:ENST00000536675:exon11:c.T1901C:p.V634A;	0.00508252439157992	0.036
18	59221423	T	G	18	61554190	y	y	exonic	CDH20	nonsynonymous SNV	CDH20:NM_031891:exon11:c.T1901G:p.V634G;	exonic	ENSG00000101542	nonsynonymous SNV	ENSG00000101542:ENST00000538374:exon12:c.T1901G:p.V634G;ENSG00000101542:ENST00000262717:exon12:c.T1901G:p.V634G;ENSG00000101542:ENST00000587582:exon2:c.T92G:p.V31G;ENSG00000101542:ENST00000536675:exon11:c.T1901G:p.V634G;	0.00522193069483478	0.08
18	59221424	G	A	18	61554191	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon11:c.G1902A:p.V634V;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon12:c.G1902A:p.V634V;ENSG00000101542:ENST00000262717:exon12:c.G1902A:p.V634V;ENSG00000101542:ENST00000587582:exon2:c.G93A:p.V31V;ENSG00000101542:ENST00000536675:exon11:c.G1902A:p.V634V;	5.10218335891785E-4	0.05
18	59221424	G	C	18	61554191	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon11:c.G1902C:p.V634V;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon12:c.G1902C:p.V634V;ENSG00000101542:ENST00000262717:exon12:c.G1902C:p.V634V;ENSG00000101542:ENST00000587582:exon2:c.G93C:p.V31V;ENSG00000101542:ENST00000536675:exon11:c.G1902C:p.V634V;	1.32996303359584E-4	0.026
18	59221424	G	T	18	61554191	y	y	exonic	CDH20	synonymous SNV	CDH20:NM_031891:exon11:c.G1902T:p.V634V;	exonic	ENSG00000101542	synonymous SNV	ENSG00000101542:ENST00000538374:exon12:c.G1902T:p.V634V;ENSG00000101542:ENST00000262717:exon12:c.G1902T:p.V634V;ENSG00000101542:ENST00000587582:exon2:c.G93T:p.V31V;ENSG00000101542:ENST00000536675:exon11:c.G1902T:p.V634V;	2.87950601278727E-4	0.028
18	59483830	T	A	18	61816597	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.23331401852721E-5	0.0
18	59483830	T	C	18	61816597	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	2.59196772760348E-5	0.008
18	59483830	T	G	18	61816597	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	4.16037169157636E-5	0.0
18	59483831	T	A	18	61816598	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.0037139267060512	0.056
18	59483831	T	C	18	61816598	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.25132413057897E-4	0.0
18	59483831	T	G	18	61816598	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00172613097225487	0.066
18	59483832	C	A	18	61816599	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999940858364002	0.908
18	59483832	C	G	18	61816599	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.99996469115006	0.91
18	59483832	C	T	18	61816599	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999955279531929	0.936
18	59483833	T	A	18	61816600	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999963671976247	0.93
18	59483833	T	C	18	61816600	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999971317418422	0.892
18	59483833	T	G	18	61816600	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999971317418422	0.892
18	59483834	G	A	18	61816601	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00147885409405799	0.03
18	59483834	G	C	18	61816601	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.999750896219319	0.958
18	59483834	G	T	18	61816601	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.980855827419235	0.634
18	59483835	A	C	18	61816602	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	9.97870812281229E-5	0.0
18	59483835	A	G	18	61816602	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	4.95649447238743E-5	0.0
18	59483835	A	T	18	61816602	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	4.90485317673581E-5	0.0
18	59483836	G	A	18	61816603	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	4.49668690972132E-5	0.0
18	59483836	G	C	18	61816603	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.0195193977663941	0.152
18	59483836	G	T	18	61816603	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00385135290827553	0.042
18	59483837	A	C	18	61816604	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00524408178325368	0.092
18	59483837	A	G	18	61816604	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	2.62549991440487E-5	0.0
18	59483837	A	T	18	61816604	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00428929159104451	0.094
18	59483838	G	A	18	61816605	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	1.55812789815835E-4	0.038
18	59483838	G	C	18	61816605	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00124989129583374	0.082
18	59483838	G	T	18	61816605	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00283909294822857	0.086
18	59483839	A	C	18	61816606	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00559954538515433	0.134
18	59483839	A	G	18	61816606	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00111408267841186	0.076
18	59483839	A	T	18	61816606	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.012394975541642	0.202
18	59483840	G	A	18	61816607	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	1.17007989193477E-4	0.034
18	59483840	G	C	18	61816607	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00153604219769304	0.12
18	59483840	G	T	18	61816607	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00283986696909191	0.066
18	59483841	A	C	18	61816608	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.0225207879886745	0.222
18	59483841	A	G	18	61816608	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00850157509359329	0.12
18	59483841	A	T	18	61816608	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.114386340191607	0.284
18	59483842	C	A	18	61816609	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	2.73387256312691E-5	0.0
18	59483842	C	G	18	61816609	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	3.98713230575514E-5	0.0
18	59483842	C	T	18	61816609	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	5.94679296093103E-5	0.0
18	59483843	A	C	18	61816610	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.119150714804749	0.276
18	59483843	A	G	18	61816610	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00422507623694739	0.06
18	59483843	A	T	18	61816610	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.999931025853784	0.954
18	59560020	G	A	18	61892787	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	7.38592440796264E-5	0.006
18	59560020	G	C	18	61892787	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	9.26587772144983E-5	0.008
18	59560020	G	T	18	61892787	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	9.26587772144983E-5	0.006
18	59560021	G	A	18	61892788	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00216175700771936	0.07
18	59560021	G	C	18	61892788	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00155547203107667	0.008
18	59560021	G	T	18	61892788	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	7.53216173032972E-4	0.004
18	59560022	G	A	18	61892789	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.0327923837889737	0.154
18	59560022	G	C	18	61892789	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.0157761418607867	0.186
18	59560022	G	T	18	61892789	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.0391383120723664	0.154
18	59560023	G	A	18	61892790	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.00744958179134082	0.152
18	59560023	G	C	18	61892790	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	7.35311542670469E-4	0.07
18	59560023	G	T	18	61892790	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.0078746921978266	0.15
18	59560024	T	A	18	61892791	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.907120694724777	0.528
18	59560024	T	C	18	61892791	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.858637382965487	0.452
18	59560024	T	G	18	61892791	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.47221904323372	0.432
18	59560025	T	A	18	61892792	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.999975438747698	0.854
18	59560025	T	C	18	61892792	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.999520618050328	0.946
18	59560025	T	G	18	61892792	y	y	intronic	RNF152	.	.	intronic	ENSG00000176641	.	.	0.999977679328564	0.898
18	59560026	A	C	18	61892793	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999988247793601	0.928
18	59560026	A	G	18	61892793	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.992054276455321	0.626
18	59560026	A	T	18	61892793	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999988247793601	0.928
18	59560027	C	A	18	61892794	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999986675681007	0.932
18	59560027	C	G	18	61892794	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999986675681007	0.932
18	59560027	C	T	18	61892794	y	y	splicing	RNF152	.	.	splicing	ENSG00000176641	.	.	0.999986675681007	0.932
18	59560028	C	A	18	61892795	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.999942858984025	0.988
18	59560028	C	G	18	61892795	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.999995941718738	0.988
18	59560028	C	T	18	61892795	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.999992366947755	1.0
18	59560029	T	A	18	61892796	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.999724222813933	0.996
18	59560029	T	C	18	61892796	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.999384833103454	0.96
18	59560029	T	G	18	61892796	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.997748985417726	0.884
18	59560030	G	A	18	61892797	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.999795631092652	0.964
18	59560030	G	C	18	61892797	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.921768741465113	0.6
18	59560030	G	T	18	61892797	y	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.951375978781417	0.778
18	59560149	G	A	18	61892916	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00207629085777594	0.046
18	59560149	G	C	18	61892916	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00121505265200911	0.082
18	59560149	G	T	18	61892916	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00207629085777594	0.044
18	59560150	C	A	18	61892917	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00901168672554749	0.076
18	59560150	C	G	18	61892917	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00483547260837295	0.082
18	59560150	C	T	18	61892917	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00901168672554749	0.086
18	59560151	C	A	18	61892918	n	y	UTR5	RNF152	.	.	splicing	ENSG00000176641	.	.	0.920630520281878	0.654
18	59560151	C	G	18	61892918	n	y	UTR5	RNF152	.	.	splicing	ENSG00000176641	.	.	0.85173448898133	0.59
18	59560151	C	T	18	61892918	n	y	UTR5	RNF152	.	.	splicing	ENSG00000176641	.	.	0.944218785557911	0.746
18	59560152	T	A	18	61892919	n	y	UTR5	RNF152	.	.	splicing	ENSG00000176641	.	.	0.203333478547473	0.674
18	59560152	T	C	18	61892919	n	y	UTR5	RNF152	.	.	splicing	ENSG00000176641	.	.	0.148860721554114	0.626
18	59560152	T	G	18	61892919	n	y	UTR5	RNF152	.	.	splicing	ENSG00000176641	.	.	0.165855701088965	0.63
18	59560153	G	A	18	61892920	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.75291867100421	0.604
18	59560153	G	C	18	61892920	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.622877785345041	0.328
18	59560153	G	T	18	61892920	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.622877785345041	0.462
18	59560154	C	A	18	61892921	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.0465305565934788	0.166
18	59560154	C	G	18	61892921	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.0390415684708475	0.078
18	59560154	C	T	18	61892921	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.26756928606277	0.22
18	59560155	A	C	18	61892922	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.11031900270562E-4	0.01
18	59560155	A	G	18	61892922	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.11031900270562E-4	0.016
18	59560155	A	T	18	61892922	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.00729299401989E-4	0.01
18	59560156	G	A	18	61892923	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.0188727900506883	0.028
18	59560156	G	C	18	61892923	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.0106228908163107	0.028
18	59560156	G	T	18	61892923	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.0181219021055777	0.024
18	59560157	T	A	18	61892924	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	4.20751301848945E-4	0.012
18	59560157	T	C	18	61892924	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	4.63770597332641E-4	0.012
18	59560157	T	G	18	61892924	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	4.63770597332641E-4	0.012
18	59560158	G	A	18	61892925	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00951067369662903	0.014
18	59560158	G	C	18	61892925	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00644672809221788	0.014
18	59560158	G	T	18	61892925	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	0.00951067369662903	0.01
18	59560159	A	C	18	61892926	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	2.93008933363103E-5	0.002
18	59560159	A	G	18	61892926	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	2.93008933363103E-5	0.002
18	59560159	A	T	18	61892926	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	4.21133756078422E-5	0.002
18	59560160	A	C	18	61892927	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.32958553153901E-4	0.002
18	59560160	A	G	18	61892927	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.32958553153901E-4	0.002
18	59560160	A	T	18	61892927	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.01160173408201E-4	0.002
18	59560161	A	C	18	61892928	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	5.71964710011831E-5	0.008
18	59560161	A	G	18	61892928	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	5.71964710011831E-5	0.004
18	59560161	A	T	18	61892928	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	5.20669146406361E-5	0.002
18	59560162	T	A	18	61892929	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.83786109792972E-4	0.056
18	59560162	T	C	18	61892929	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.19855434655202E-4	0.022
18	59560162	T	G	18	61892929	n	y	UTR5	RNF152	.	.	UTR5	ENSG00000176641	.	.	1.19855434655202E-4	0.022
18	59561375	T	A	18	61894142	n	y	intergenic	RNF152(dist=1071);PIGN(dist=150083)	.	.	intronic	ENSG00000176641	.	.	0.0103654337966686	0.086
18	59561375	T	C	18	61894142	n	y	intergenic	RNF152(dist=1071);PIGN(dist=150083)	.	.	intronic	ENSG00000176641	.	.	0.00386570099128344	0.122
18	59561375	T	G	18	61894142	n	y	intergenic	RNF152(dist=1071);PIGN(dist=150083)	.	.	intronic	ENSG00000176641	.	.	0.00386570099128344	0.114
18	59561376	C	A	18	61894143	n	y	intergenic	RNF152(dist=1072);PIGN(dist=150082)	.	.	intronic	ENSG00000176641	.	.	0.00999317671038007	0.12
18	59561376	C	G	18	61894143	n	y	intergenic	RNF152(dist=1072);PIGN(dist=150082)	.	.	intronic	ENSG00000176641	.	.	0.00939757254004931	0.088
18	59561376	C	T	18	61894143	n	y	intergenic	RNF152(dist=1072);PIGN(dist=150082)	.	.	intronic	ENSG00000176641	.	.	0.0251573007428338	0.172
18	59561377	A	C	18	61894144	n	y	intergenic	RNF152(dist=1073);PIGN(dist=150081)	.	.	intronic	ENSG00000176641	.	.	0.00386570099128344	0.116
18	59561377	A	G	18	61894144	n	y	intergenic	RNF152(dist=1073);PIGN(dist=150081)	.	.	intronic	ENSG00000176641	.	.	0.00386570099128344	0.122
18	59561377	A	T	18	61894144	n	y	intergenic	RNF152(dist=1073);PIGN(dist=150081)	.	.	intronic	ENSG00000176641	.	.	0.0103654337966686	0.086
18	59561378	C	A	18	61894145	n	y	intergenic	RNF152(dist=1074);PIGN(dist=150080)	.	.	intronic	ENSG00000176641	.	.	0.00932703692743929	0.098
18	59561378	C	G	18	61894145	n	y	intergenic	RNF152(dist=1074);PIGN(dist=150080)	.	.	intronic	ENSG00000176641	.	.	0.00939757254004931	0.092
18	59561378	C	T	18	61894145	n	y	intergenic	RNF152(dist=1074);PIGN(dist=150080)	.	.	intronic	ENSG00000176641	.	.	0.0251573007428338	0.158
18	59561379	T	A	18	61894146	n	y	intergenic	RNF152(dist=1075);PIGN(dist=150079)	.	.	intronic	ENSG00000176641	.	.	6.84494840403595E-5	0.032
18	59561379	T	C	18	61894146	n	y	intergenic	RNF152(dist=1075);PIGN(dist=150079)	.	.	intronic	ENSG00000176641	.	.	7.51929058365292E-5	0.034
18	59561379	T	G	18	61894146	n	y	intergenic	RNF152(dist=1075);PIGN(dist=150079)	.	.	intronic	ENSG00000176641	.	.	7.51929058365292E-5	0.034
18	59561380	G	A	18	61894147	n	y	intergenic	RNF152(dist=1076);PIGN(dist=150078)	.	.	intronic	ENSG00000176641	.	.	0.00151108457616126	0.008
18	59561380	G	C	18	61894147	n	y	intergenic	RNF152(dist=1076);PIGN(dist=150078)	.	.	intronic	ENSG00000176641	.	.	0.00167031413579547	0.008
18	59561380	G	T	18	61894147	n	y	intergenic	RNF152(dist=1076);PIGN(dist=150078)	.	.	intronic	ENSG00000176641	.	.	0.00151108457616126	0.008
18	59561381	A	C	18	61894148	n	y	intergenic	RNF152(dist=1077);PIGN(dist=150077)	.	.	splicing	ENSG00000176641	.	.	8.27469819831474E-4	0.006
18	59561381	A	G	18	61894148	n	y	intergenic	RNF152(dist=1077);PIGN(dist=150077)	.	.	splicing	ENSG00000176641	.	.	8.27469819831474E-4	0.006
18	59561381	A	T	18	61894148	n	y	intergenic	RNF152(dist=1077);PIGN(dist=150077)	.	.	splicing	ENSG00000176641	.	.	8.27469819831474E-4	0.006
18	59561382	C	A	18	61894149	n	y	intergenic	RNF152(dist=1078);PIGN(dist=150076)	.	.	splicing	ENSG00000176641	.	.	0.00151108457616126	0.008
18	59561382	C	G	18	61894149	n	y	intergenic	RNF152(dist=1078);PIGN(dist=150076)	.	.	splicing	ENSG00000176641	.	.	0.00167031413579547	0.008
18	59561382	C	T	18	61894149	n	y	intergenic	RNF152(dist=1078);PIGN(dist=150076)	.	.	splicing	ENSG00000176641	.	.	0.00151108457616126	0.008
18	59561383	C	A	18	61894150	n	y	intergenic	RNF152(dist=1079);PIGN(dist=150075)	.	.	UTR5	ENSG00000176641	.	.	0.00151108457616126	0.01
18	59561383	C	G	18	61894150	n	y	intergenic	RNF152(dist=1079);PIGN(dist=150075)	.	.	UTR5	ENSG00000176641	.	.	0.00167031413579547	0.008
18	59561383	C	T	18	61894150	n	y	intergenic	RNF152(dist=1079);PIGN(dist=150075)	.	.	UTR5	ENSG00000176641	.	.	0.00151108457616126	0.008
18	59561384	T	A	18	61894151	n	y	intergenic	RNF152(dist=1080);PIGN(dist=150074)	.	.	UTR5	ENSG00000176641	.	.	3.14992400490621E-4	0.006
18	59561384	T	C	18	61894151	n	y	intergenic	RNF152(dist=1080);PIGN(dist=150074)	.	.	UTR5	ENSG00000176641	.	.	3.14992400490621E-4	0.006
18	59561384	T	G	18	61894151	n	y	intergenic	RNF152(dist=1080);PIGN(dist=150074)	.	.	UTR5	ENSG00000176641	.	.	3.14992400490621E-4	0.006
18	59561385	T	A	18	61894152	n	y	intergenic	RNF152(dist=1081);PIGN(dist=150073)	.	.	UTR5	ENSG00000176641	.	.	1.69126630192117E-4	0.02
18	59561385	T	C	18	61894152	n	y	intergenic	RNF152(dist=1081);PIGN(dist=150073)	.	.	UTR5	ENSG00000176641	.	.	1.69126630192117E-4	0.022
18	59561385	T	G	18	61894152	n	y	intergenic	RNF152(dist=1081);PIGN(dist=150073)	.	.	UTR5	ENSG00000176641	.	.	1.69126630192117E-4	0.03
18	59853475	G	A	18	62186242	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	1.69884688945688E-4	0.008
18	59853475	G	C	18	62186242	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	2.27163650926202E-4	0.026
18	59853475	G	T	18	62186242	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	2.27163650926202E-4	0.036
18	59853476	G	A	18	62186243	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	7.42544334184685E-5	0.022
18	59853476	G	C	18	62186243	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	7.42544334184685E-5	0.006
18	59853476	G	T	18	62186243	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	7.42544334184685E-5	0.008
18	59853477	T	A	18	62186244	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	9.63734018024452E-5	0.0
18	59853477	T	C	18	62186244	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	8.73196147837547E-5	0.0
18	59853477	T	G	18	62186244	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	8.73196147837547E-5	0.0
18	59853478	T	A	18	62186245	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	3.08739841361144E-4	0.008
18	59853478	T	C	18	62186245	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	3.08739841361144E-4	0.008
18	59853478	T	G	18	62186245	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	3.08739841361144E-4	0.006
18	59853479	T	A	18	62186246	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	5.15941453541388E-5	0.002
18	59853479	T	C	18	62186246	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	5.15941453541388E-5	0.004
18	59853479	T	G	18	62186246	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	5.15941453541388E-5	0.004
18	59853480	C	A	18	62186247	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	4.11713759611921E-5	0.0
18	59853480	C	G	18	62186247	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	4.11713759611921E-5	0.0
18	59853480	C	T	18	62186247	n	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	4.11713759611921E-5	0.0
18	59853481	A	C	18	62186248	n	y	intronic	PIGN	.	.	splicing	ENSG00000197563	.	.	6.552751562108E-5	0.018
18	59853481	A	G	18	62186248	n	y	intronic	PIGN	.	.	splicing	ENSG00000197563	.	.	6.552751562108E-5	0.09
18	59853481	A	T	18	62186248	n	y	intronic	PIGN	.	.	splicing	ENSG00000197563	.	.	4.90028566392549E-5	0.002
18	59853482	C	A	18	62186249	n	y	intronic	PIGN	.	.	splicing	ENSG00000197563	.	.	2.33815804894828E-5	0.0
18	59853482	C	G	18	62186249	n	y	intronic	PIGN	.	.	splicing	ENSG00000197563	.	.	4.24975915077222E-5	0.0
18	59853482	C	T	18	62186249	n	y	intronic	PIGN	.	.	splicing	ENSG00000197563	.	.	2.33815804894828E-5	0.0
18	59853483	C	A	18	62186250	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.65332719750715E-4	0.018
18	59853483	C	G	18	62186250	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.77575230623332E-4	0.018
18	59853483	C	T	18	62186250	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.65332719750715E-4	0.018
18	59853484	A	C	18	62186251	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.00135452775013483	0.018
18	59853484	A	G	18	62186251	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.00135452775013483	0.018
18	59853484	A	T	18	62186251	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.00129888709226518	0.036
18	59853485	T	A	18	62186252	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.69844050747639E-4	0.002
18	59853485	T	C	18	62186252	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.45387536832266E-4	0.002
18	59853485	T	G	18	62186252	n	y	intronic	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.45387536832266E-4	0.002
18	59854069	A	C	18	62186836	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	2.65230034870006E-4	0.004
18	59854069	A	G	18	62186836	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	2.65230034870006E-4	0.004
18	59854069	A	T	18	62186836	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	2.65230034870006E-4	0.004
18	59854070	A	C	18	62186837	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	5.13889295159341E-4	0.006
18	59854070	A	G	18	62186837	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	3.71098141498868E-4	0.004
18	59854070	A	T	18	62186837	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	5.13889295159341E-4	0.07
18	59854071	C	A	18	62186838	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	2.30388612349147E-4	0.004
18	59854071	C	G	18	62186838	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	2.54700087762205E-4	0.004
18	59854071	C	T	18	62186838	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	2.30388612349147E-4	0.004
18	59854072	T	A	18	62186839	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	1.77945247904412E-4	0.0
18	59854072	T	C	18	62186839	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	1.77945247904412E-4	0.0
18	59854072	T	G	18	62186839	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	1.77945247904412E-4	0.0
18	59854073	T	A	18	62186840	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	5.07897530514901E-4	0.006
18	59854073	T	C	18	62186840	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	3.08191572409276E-4	0.002
18	59854073	T	G	18	62186840	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	3.08191572409276E-4	0.004
18	59854074	T	A	18	62186841	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	0.502624535581599	0.664
18	59854074	T	C	18	62186841	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	0.440483202490144	0.628
18	59854074	T	G	18	62186841	y	y	intronic	PIGN	.	.	intronic	ENSG00000197563	.	.	0.440483202490144	0.628
18	59854075	A	C	18	62186842	y	y	splicing	PIGN	.	.	splicing	ENSG00000197563	.	.	0.0138686981344558	0.2
18	59854075	A	G	18	62186842	y	y	splicing	PIGN	.	.	splicing	ENSG00000197563	.	.	0.0226505177044392	0.204
18	59854075	A	T	18	62186842	y	y	splicing	PIGN	.	.	splicing	ENSG00000197563	.	.	0.018848562993765	0.214
18	59854076	C	A	18	62186843	y	y	splicing	PIGN	.	.	splicing	ENSG00000197563	.	.	0.990408102129605	0.85
18	59854076	C	G	18	62186843	y	y	splicing	PIGN	.	.	splicing	ENSG00000197563	.	.	0.984291262377701	0.84
18	59854076	C	T	18	62186843	y	y	splicing	PIGN	.	.	splicing	ENSG00000197563	.	.	0.990408102129605	0.864
18	59854077	C	A	18	62186844	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.0332034636429039	0.248
18	59854077	C	G	18	62186844	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.0249681078020574	0.238
18	59854077	C	T	18	62186844	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.0332034636429039	0.252
18	59854078	T	A	18	62186845	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.784522596134489	0.744
18	59854078	T	C	18	62186845	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.756081894299947	0.73
18	59854078	T	G	18	62186845	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.73520146084848	0.72
18	59854079	G	A	18	62186846	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.511231934920899	0.566
18	59854079	G	C	18	62186846	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.511231934920899	0.52
18	59854079	G	T	18	62186846	y	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.511231934920899	0.53
18	59854248	C	A	18	62187015	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.49003403242113E-4	0.052
18	59854248	C	G	18	62187015	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.49003403242113E-4	0.042
18	59854248	C	T	18	62187015	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.46413582978283E-4	0.042
18	59854249	C	A	18	62187016	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.00261102217652179	0.092
18	59854249	C	G	18	62187016	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.00261102217652179	0.084
18	59854249	C	T	18	62187016	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	0.00261102217652179	0.1
18	59854250	C	A	18	62187017	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	7.29649089108586E-5	0.018
18	59854250	C	G	18	62187017	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	4.90028914359353E-5	0.0
18	59854250	C	T	18	62187017	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	7.29649089108586E-5	0.018
18	59854251	A	C	18	62187018	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.11569662134382E-4	0.02
18	59854251	A	G	18	62187018	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.11569662134382E-4	0.02
18	59854251	A	T	18	62187018	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.48234079465902E-4	0.036
18	59854252	A	C	18	62187019	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	9.80257671126134E-4	0.016
18	59854252	A	G	18	62187019	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	9.80257671126134E-4	0.008
18	59854252	A	T	18	62187019	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	7.69968134076753E-4	0.0
18	59854253	T	A	18	62187020	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.02056512274483E-4	0.014
18	59854253	T	C	18	62187020	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.49229997755661E-4	0.032
18	59854253	T	G	18	62187020	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.49229997755661E-4	0.034
18	59854254	A	C	18	62187021	n	y	UTR5	PIGN	.	.	splicing	ENSG00000197563	.	.	5.98494470412995E-5	0.0
18	59854254	A	G	18	62187021	n	y	UTR5	PIGN	.	.	splicing	ENSG00000197563	.	.	5.98494470412995E-5	0.0
18	59854254	A	T	18	62187021	n	y	UTR5	PIGN	.	.	splicing	ENSG00000197563	.	.	5.98494470412995E-5	0.0
18	59854255	C	A	18	62187022	n	y	UTR5	PIGN	.	.	splicing	ENSG00000197563	.	.	1.05460399056813E-4	0.012
18	59854255	C	G	18	62187022	n	y	UTR5	PIGN	.	.	splicing	ENSG00000197563	.	.	1.05460399056813E-4	0.01
18	59854255	C	T	18	62187022	n	y	UTR5	PIGN	.	.	splicing	ENSG00000197563	.	.	1.04363376760085E-4	0.018
18	59854256	C	A	18	62187023	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	7.75002676380762E-5	0.004
18	59854256	C	G	18	62187023	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.13324429737708E-4	0.072
18	59854256	C	T	18	62187023	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	7.05499324916919E-5	0.0
18	59854257	T	A	18	62187024	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.77330771774935E-4	0.002
18	59854257	T	C	18	62187024	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.32658667526046E-4	0.002
18	59854257	T	G	18	62187024	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.32658667526046E-4	0.002
18	59854258	G	A	18	62187025	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.28522395021361E-4	0.036
18	59854258	G	C	18	62187025	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	1.14267194765287E-4	0.022
18	59854258	G	T	18	62187025	n	y	UTR5	PIGN	.	.	UTR5	ENSG00000197563	.	.	2.03961808263162E-4	0.056
18	59855262	T	A	18	62188029	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon1:c.T524A:p.L175H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.T524A:p.L175H;ENSG00000134444:ENST00000587725:exon1:c.T524A:p.L175H;ENSG00000134444:ENST00000256858:exon1:c.T524A:p.L175H;	0.297627067028159	0.542
18	59855262	T	C	18	62188029	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon1:c.T524C:p.L175P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.T524C:p.L175P;ENSG00000134444:ENST00000587725:exon1:c.T524C:p.L175P;ENSG00000134444:ENST00000256858:exon1:c.T524C:p.L175P;	0.240258361294271	0.442
18	59855262	T	G	18	62188029	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon1:c.T524G:p.L175R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.T524G:p.L175R;ENSG00000134444:ENST00000587725:exon1:c.T524G:p.L175R;ENSG00000134444:ENST00000256858:exon1:c.T524G:p.L175R;	0.392459270240863	0.528
18	59855263	C	A	18	62188030	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon1:c.C525A:p.L175L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.C525A:p.L175L;ENSG00000134444:ENST00000587725:exon1:c.C525A:p.L175L;ENSG00000134444:ENST00000256858:exon1:c.C525A:p.L175L;	0.348358115644854	0.416
18	59855263	C	G	18	62188030	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon1:c.C525G:p.L175L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.C525G:p.L175L;ENSG00000134444:ENST00000587725:exon1:c.C525G:p.L175L;ENSG00000134444:ENST00000256858:exon1:c.C525G:p.L175L;	0.362632197717805	0.592
18	59855263	C	T	18	62188030	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon1:c.C525T:p.L175L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.C525T:p.L175L;ENSG00000134444:ENST00000587725:exon1:c.C525T:p.L175L;ENSG00000134444:ENST00000256858:exon1:c.C525T:p.L175L;	0.768743798373902	0.57
18	59855264	A	C	18	62188031	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon1:c.A526C:p.N176H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.A526C:p.N176H;ENSG00000134444:ENST00000587725:exon1:c.A526C:p.N176H;ENSG00000134444:ENST00000256858:exon1:c.A526C:p.N176H;	0.00796820038121444	0.126
18	59855264	A	G	18	62188031	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon1:c.A526G:p.N176D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.A526G:p.N176D;ENSG00000134444:ENST00000587725:exon1:c.A526G:p.N176D;ENSG00000134444:ENST00000256858:exon1:c.A526G:p.N176D;	0.00151433331034547	0.062
18	59855264	A	T	18	62188031	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon1:c.A526T:p.N176Y;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon1:c.A526T:p.N176Y;ENSG00000134444:ENST00000587725:exon1:c.A526T:p.N176Y;ENSG00000134444:ENST00000256858:exon1:c.A526T:p.N176Y;	0.0126534685165392	0.324
18	59855265	G	A	18	62188032	y	y	splicing	KIAA1468(NM_020854:exon1:c.526+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon1:c.526+1G>A;ENST00000398130:exon1:c.526+1G>A;ENST00000587725:exon1:c.526+1G>A)	.	.	0.999986675681007	0.934
18	59855265	G	C	18	62188032	y	y	splicing	KIAA1468(NM_020854:exon1:c.526+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon1:c.526+1G>C;ENST00000398130:exon1:c.526+1G>C;ENST00000587725:exon1:c.526+1G>C)	.	.	0.999986675681007	0.934
18	59855265	G	T	18	62188032	y	y	splicing	KIAA1468(NM_020854:exon1:c.526+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon1:c.526+1G>T;ENST00000398130:exon1:c.526+1G>T;ENST00000587725:exon1:c.526+1G>T)	.	.	0.999986675681007	0.934
18	59855266	T	A	18	62188033	y	y	splicing	KIAA1468(NM_020854:exon1:c.526+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon1:c.526+2T>A;ENST00000398130:exon1:c.526+2T>A;ENST00000587725:exon1:c.526+2T>A)	.	.	0.999990155693597	0.928
18	59855266	T	C	18	62188033	y	y	splicing	KIAA1468(NM_020854:exon1:c.526+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon1:c.526+2T>C;ENST00000398130:exon1:c.526+2T>C;ENST00000587725:exon1:c.526+2T>C)	.	.	0.997965825019082	0.824
18	59855266	T	G	18	62188033	y	y	splicing	KIAA1468(NM_020854:exon1:c.526+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon1:c.526+2T>G;ENST00000398130:exon1:c.526+2T>G;ENST00000587725:exon1:c.526+2T>G)	.	.	0.999990155693597	0.928
18	59855267	A	C	18	62188034	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999825003091827	0.964
18	59855267	A	G	18	62188034	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.662056885533844	0.42
18	59855267	A	T	18	62188034	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999790456132363	0.988
18	59855268	A	C	18	62188035	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999291121537325	0.898
18	59855268	A	G	18	62188035	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997642129250915	0.978
18	59855268	A	T	18	62188035	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998452758522206	0.936
18	59855269	G	A	18	62188036	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999968543938335	0.998
18	59855269	G	C	18	62188036	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999968543938335	0.984
18	59855269	G	T	18	62188036	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999956153405628	0.992
18	59855270	T	A	18	62188037	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.874847207486227	0.63
18	59855270	T	C	18	62188037	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.956930822331523	0.768
18	59855270	T	G	18	62188037	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.961038114990768	0.77
18	59855271	G	A	18	62188038	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.53479038495441E-4	0.004
18	59855271	G	C	18	62188038	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.46526879472898E-4	0.0
18	59855271	G	T	18	62188038	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.34241895422928E-4	0.004
18	59855272	G	A	18	62188039	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.0311458103942E-5	0.002
18	59855272	G	C	18	62188039	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.15671981458715E-4	0.004
18	59855272	G	T	18	62188039	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.49440871706486E-4	0.006
18	59878374	T	A	18	62211141	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00680388532030198	0.172
18	59878374	T	C	18	62211141	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00113664695027599	0.028
18	59878374	T	G	18	62211141	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00273037239998566	0.152
18	59878375	C	A	18	62211142	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.98057420689874E-4	0.05
18	59878375	C	G	18	62211142	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.92168927416946E-4	0.016
18	59878375	C	T	18	62211142	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.23882519583679E-5	0.022
18	59878376	T	A	18	62211143	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.71778878054791E-4	0.1
18	59878376	T	C	18	62211143	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.50573837038381E-4	0.006
18	59878376	T	G	18	62211143	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.53062053772765E-4	0.122
18	59878377	T	A	18	62211144	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0131613149898709	0.326
18	59878377	T	C	18	62211144	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00540575888971386	0.096
18	59878377	T	G	18	62211144	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00932364986103498	0.278
18	59878378	T	A	18	62211145	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00270691644592518	0.066
18	59878378	T	C	18	62211145	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.80893534030353E-4	0.004
18	59878378	T	G	18	62211145	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00729241585325743	0.174
18	59878379	A	C	18	62211146	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.07629853734031E-5	0.0
18	59878379	A	G	18	62211146	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.64745399314608E-5	0.0
18	59878379	A	T	18	62211146	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.35031423102131E-5	0.0
18	59878380	T	A	18	62211147	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0127538475535006	0.152
18	59878380	T	C	18	62211147	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.47216489377681E-5	0.012
18	59878380	T	G	18	62211147	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993996389404367	0.94
18	59878381	T	A	18	62211148	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00581450540016061	0.088
18	59878381	T	C	18	62211148	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.1034096012523E-4	0.014
18	59878381	T	G	18	62211148	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00250994495722851	0.08
18	59878382	A	C	18	62211149	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.6929396138622E-5	0.0
18	59878382	A	G	18	62211149	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.33141600191487E-5	0.0
18	59878382	A	T	18	62211149	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.95341199223715E-5	0.0
18	59878383	T	A	18	62211150	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0231784445733415	0.198
18	59878383	T	C	18	62211150	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.14845385542885E-4	0.024
18	59878383	T	G	18	62211150	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997492994496375	0.702
18	59878384	A	C	18	62211151	y	y	splicing	KIAA1468(NM_020854:exon2:c.527-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.527-2A>C;ENST00000398130:exon2:c.527-2A>C;ENST00000587725:exon2:c.527-2A>C)	.	.	0.99997739437695	0.912
18	59878384	A	G	18	62211151	y	y	splicing	KIAA1468(NM_020854:exon2:c.527-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.527-2A>G;ENST00000398130:exon2:c.527-2A>G;ENST00000587725:exon2:c.527-2A>G)	.	.	0.99997739437695	0.91
18	59878384	A	T	18	62211151	y	y	splicing	KIAA1468(NM_020854:exon2:c.527-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.527-2A>T;ENST00000398130:exon2:c.527-2A>T;ENST00000587725:exon2:c.527-2A>T)	.	.	0.999978156327223	0.932
18	59878385	G	A	18	62211152	y	y	splicing	KIAA1468(NM_020854:exon2:c.527-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.527-1G>A;ENST00000398130:exon2:c.527-1G>A;ENST00000587725:exon2:c.527-1G>A)	.	.	0.999981760802075	0.944
18	59878385	G	C	18	62211152	y	y	splicing	KIAA1468(NM_020854:exon2:c.527-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.527-1G>C;ENST00000398130:exon2:c.527-1G>C;ENST00000587725:exon2:c.527-1G>C)	.	.	0.999981760802075	0.944
18	59878385	G	T	18	62211152	y	y	splicing	KIAA1468(NM_020854:exon2:c.527-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.527-1G>T;ENST00000398130:exon2:c.527-1G>T;ENST00000587725:exon2:c.527-1G>T)	.	.	0.999981760802075	0.944
18	59878386	A	C	18	62211153	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.A527C:p.N176T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.A527C:p.N176T;ENSG00000134444:ENST00000587725:exon2:c.A527C:p.N176T;ENSG00000134444:ENST00000256858:exon2:c.A527C:p.N176T;	0.141442856324813	0.536
18	59878386	A	G	18	62211153	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.A527G:p.N176S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.A527G:p.N176S;ENSG00000134444:ENST00000587725:exon2:c.A527G:p.N176S;ENSG00000134444:ENST00000256858:exon2:c.A527G:p.N176S;	0.00366657400545428	0.062
18	59878386	A	T	18	62211153	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.A527T:p.N176I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.A527T:p.N176I;ENSG00000134444:ENST00000587725:exon2:c.A527T:p.N176I;ENSG00000134444:ENST00000256858:exon2:c.A527T:p.N176I;	0.231916624404958	0.526
18	59878387	T	A	18	62211154	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.T528A:p.N176K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.T528A:p.N176K;ENSG00000134444:ENST00000587725:exon2:c.T528A:p.N176K;ENSG00000134444:ENST00000256858:exon2:c.T528A:p.N176K;	0.127054672266439	0.318
18	59878387	T	C	18	62211154	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon2:c.T528C:p.N176N;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.T528C:p.N176N;ENSG00000134444:ENST00000587725:exon2:c.T528C:p.N176N;ENSG00000134444:ENST00000256858:exon2:c.T528C:p.N176N;	0.00656751906803867	0.064
18	59878387	T	G	18	62211154	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.T528G:p.N176K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.T528G:p.N176K;ENSG00000134444:ENST00000587725:exon2:c.T528G:p.N176K;ENSG00000134444:ENST00000256858:exon2:c.T528G:p.N176K;	0.0647391315658683	0.364
18	59878473	C	A	18	62211240	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.C614A:p.A205E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.C614A:p.A205E;ENSG00000134444:ENST00000587725:exon2:c.C614A:p.A205E;ENSG00000134444:ENST00000256858:exon2:c.C614A:p.A205E;	0.917130710343601	0.788
18	59878473	C	G	18	62211240	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.C614G:p.A205G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.C614G:p.A205G;ENSG00000134444:ENST00000587725:exon2:c.C614G:p.A205G;ENSG00000134444:ENST00000256858:exon2:c.C614G:p.A205G;	0.863847595101396	0.596
18	59878473	C	T	18	62211240	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.C614T:p.A205V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.C614T:p.A205V;ENSG00000134444:ENST00000587725:exon2:c.C614T:p.A205V;ENSG00000134444:ENST00000256858:exon2:c.C614T:p.A205V;	0.994420796739019	0.808
18	59878474	A	C	18	62211241	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon2:c.A615C:p.A205A;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.A615C:p.A205A;ENSG00000134444:ENST00000587725:exon2:c.A615C:p.A205A;ENSG00000134444:ENST00000256858:exon2:c.A615C:p.A205A;	0.0993511376793768	0.52
18	59878474	A	G	18	62211241	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon2:c.A615G:p.A205A;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.A615G:p.A205A;ENSG00000134444:ENST00000587725:exon2:c.A615G:p.A205A;ENSG00000134444:ENST00000256858:exon2:c.A615G:p.A205A;	0.152884240910254	0.394
18	59878474	A	T	18	62211241	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon2:c.A615T:p.A205A;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.A615T:p.A205A;ENSG00000134444:ENST00000587725:exon2:c.A615T:p.A205A;ENSG00000134444:ENST00000256858:exon2:c.A615T:p.A205A;	0.283014373344703	0.458
18	59878475	G	A	18	62211242	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.G616A:p.V206I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.G616A:p.V206I;ENSG00000134444:ENST00000587725:exon2:c.G616A:p.V206I;ENSG00000134444:ENST00000256858:exon2:c.G616A:p.V206I;	0.999691961100616	0.98
18	59878475	G	C	18	62211242	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.G616C:p.V206L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.G616C:p.V206L;ENSG00000134444:ENST00000587725:exon2:c.G616C:p.V206L;ENSG00000134444:ENST00000256858:exon2:c.G616C:p.V206L;	0.999914827285043	0.97
18	59878475	G	T	18	62211242	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon2:c.G616T:p.V206F;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon2:c.G616T:p.V206F;ENSG00000134444:ENST00000587725:exon2:c.G616T:p.V206F;ENSG00000134444:ENST00000256858:exon2:c.G616T:p.V206F;	0.999749594745256	0.962
18	59878476	G	A	18	62211243	y	y	splicing	KIAA1468(NM_020854:exon2:c.616+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.616+1G>A;ENST00000398130:exon2:c.616+1G>A;ENST00000587725:exon2:c.616+1G>A)	.	.	0.999988247793601	0.932
18	59878476	G	C	18	62211243	y	y	splicing	KIAA1468(NM_020854:exon2:c.616+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.616+1G>C;ENST00000398130:exon2:c.616+1G>C;ENST00000587725:exon2:c.616+1G>C)	.	.	0.999988247793601	0.932
18	59878476	G	T	18	62211243	y	y	splicing	KIAA1468(NM_020854:exon2:c.616+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.616+1G>T;ENST00000398130:exon2:c.616+1G>T;ENST00000587725:exon2:c.616+1G>T)	.	.	0.999988247793601	0.932
18	59878477	T	A	18	62211244	y	y	splicing	KIAA1468(NM_020854:exon2:c.616+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.616+2T>A;ENST00000398130:exon2:c.616+2T>A;ENST00000587725:exon2:c.616+2T>A)	.	.	0.999993672935256	0.93
18	59878477	T	C	18	62211244	y	y	splicing	KIAA1468(NM_020854:exon2:c.616+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.616+2T>C;ENST00000398130:exon2:c.616+2T>C;ENST00000587725:exon2:c.616+2T>C)	.	.	0.999959541454763	0.862
18	59878477	T	G	18	62211244	y	y	splicing	KIAA1468(NM_020854:exon2:c.616+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon2:c.616+2T>G;ENST00000398130:exon2:c.616+2T>G;ENST00000587725:exon2:c.616+2T>G)	.	.	0.999993672935256	0.93
18	59878478	G	A	18	62211245	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.5862839171763E-5	0.008
18	59878478	G	C	18	62211245	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0131335434731052	0.234
18	59878478	G	T	18	62211245	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0131597801583612	0.318
18	59878479	A	C	18	62211246	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.513098128990981	0.322
18	59878479	A	G	18	62211246	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.979901874058574	0.58
18	59878479	A	T	18	62211246	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.945675613173148	0.526
18	59878480	G	A	18	62211247	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999598666382046	0.97
18	59878480	G	C	18	62211247	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998358895101748	0.89
18	59878480	G	T	18	62211247	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999066544369511	0.904
18	59878481	T	A	18	62211248	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.323303274247811	0.436
18	59878481	T	C	18	62211248	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0758191463328503	0.322
18	59878481	T	G	18	62211248	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0150963902062539	0.214
18	59878482	A	C	18	62211249	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.39252134329056E-4	0.012
18	59878482	A	G	18	62211249	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.65535077578055E-4	0.006
18	59878482	A	T	18	62211249	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.13207934193079E-4	0.002
18	59878483	A	C	18	62211250	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.60887591616819E-4	0.006
18	59878483	A	G	18	62211250	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.60887591616819E-4	0.002
18	59878483	A	T	18	62211250	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.35500522259419E-4	0.028
18	59888258	A	C	18	62221025	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.724431715236023	0.492
18	59888258	A	G	18	62221025	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999822600530596	0.942
18	59888258	A	T	18	62221025	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.760116490050466	0.482
18	59888259	T	A	18	62221026	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999913312010342	0.946
18	59888259	T	C	18	62221026	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998810016093544	0.844
18	59888259	T	G	18	62221026	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999992160839813	0.972
18	59888260	C	A	18	62221027	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.989947184691916	0.66
18	59888260	C	G	18	62221027	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.980921299000285	0.654
18	59888260	C	T	18	62221027	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.94842033390483	0.732
18	59888261	C	A	18	62221028	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.983825703240921	0.66
18	59888261	C	G	18	62221028	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.985616355288308	0.66
18	59888261	C	T	18	62221028	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.961422949940733	0.738
18	59888262	C	A	18	62221029	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.864294940315244	0.49
18	59888262	C	G	18	62221029	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.24429096502253	0.386
18	59888262	C	T	18	62221029	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0022873916653295	0.084
18	59888263	T	A	18	62221030	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999919426766395	0.978
18	59888263	T	C	18	62221030	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.038525153980213	0.232
18	59888263	T	G	18	62221030	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99594272513814	0.73
18	59888264	G	A	18	62221031	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0496865063169462	0.142
18	59888264	G	C	18	62221031	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00339864702847915	0.064
18	59888264	G	T	18	62221031	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00343758004564439	0.068
18	59888265	T	A	18	62221032	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.972829577062332	0.85
18	59888265	T	C	18	62221032	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.440615938411341	0.36
18	59888265	T	G	18	62221032	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.990027773501485	0.876
18	59888266	C	A	18	62221033	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00251679717019195	0.104
18	59888266	C	G	18	62221033	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0154145817770793	0.168
18	59888266	C	T	18	62221033	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00302867272330047	0.11
18	59888267	C	A	18	62221034	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999901024019733	0.94
18	59888267	C	G	18	62221034	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999977553023644	0.918
18	59888267	C	T	18	62221034	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.171125744021103	0.198
18	59888268	A	C	18	62221035	y	y	splicing	KIAA1468(NM_020854:exon3:c.617-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.617-2A>C;ENST00000398130:exon3:c.617-2A>C;ENST00000587725:exon3:c.617-2A>C)	.	.	0.999986741007567	0.944
18	59888268	A	G	18	62221035	y	y	splicing	KIAA1468(NM_020854:exon3:c.617-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.617-2A>G;ENST00000398130:exon3:c.617-2A>G;ENST00000587725:exon3:c.617-2A>G)	.	.	0.999986741007567	0.944
18	59888268	A	T	18	62221035	y	y	splicing	KIAA1468(NM_020854:exon3:c.617-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.617-2A>T;ENST00000398130:exon3:c.617-2A>T;ENST00000587725:exon3:c.617-2A>T)	.	.	0.999986741007567	0.944
18	59888269	G	A	18	62221036	y	y	splicing	KIAA1468(NM_020854:exon3:c.617-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.617-1G>A;ENST00000398130:exon3:c.617-1G>A;ENST00000587725:exon3:c.617-1G>A)	.	.	0.999987670894945	0.94
18	59888269	G	C	18	62221036	y	y	splicing	KIAA1468(NM_020854:exon3:c.617-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.617-1G>C;ENST00000398130:exon3:c.617-1G>C;ENST00000587725:exon3:c.617-1G>C)	.	.	0.999987670894945	0.94
18	59888269	G	T	18	62221036	y	y	splicing	KIAA1468(NM_020854:exon3:c.617-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.617-1G>T;ENST00000398130:exon3:c.617-1G>T;ENST00000587725:exon3:c.617-1G>T)	.	.	0.999987670894945	0.94
18	59888270	T	A	18	62221037	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon3:c.T617A:p.V206D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.T617A:p.V206D;ENSG00000134444:ENST00000587725:exon3:c.T617A:p.V206D;ENSG00000134444:ENST00000256858:exon3:c.T617A:p.V206D;	0.795742567783934	0.67
18	59888270	T	C	18	62221037	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon3:c.T617C:p.V206A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.T617C:p.V206A;ENSG00000134444:ENST00000587725:exon3:c.T617C:p.V206A;ENSG00000134444:ENST00000256858:exon3:c.T617C:p.V206A;	0.947984102483333	0.468
18	59888270	T	G	18	62221037	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon3:c.T617G:p.V206G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.T617G:p.V206G;ENSG00000134444:ENST00000587725:exon3:c.T617G:p.V206G;ENSG00000134444:ENST00000256858:exon3:c.T617G:p.V206G;	0.845653564108413	0.636
18	59888271	C	A	18	62221038	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon3:c.C618A:p.V206V;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.C618A:p.V206V;ENSG00000134444:ENST00000587725:exon3:c.C618A:p.V206V;ENSG00000134444:ENST00000256858:exon3:c.C618A:p.V206V;	0.108216770202583	0.21
18	59888271	C	G	18	62221038	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon3:c.C618G:p.V206V;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.C618G:p.V206V;ENSG00000134444:ENST00000587725:exon3:c.C618G:p.V206V;ENSG00000134444:ENST00000256858:exon3:c.C618G:p.V206V;	0.0102432885389452	0.088
18	59888271	C	T	18	62221038	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon3:c.C618T:p.V206V;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.C618T:p.V206V;ENSG00000134444:ENST00000587725:exon3:c.C618T:p.V206V;ENSG00000134444:ENST00000256858:exon3:c.C618T:p.V206V;	0.00685166136805285	0.088
18	59888339	C	A	18	62221106	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon3:c.C686A:p.A229E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.C686A:p.A229E;ENSG00000134444:ENST00000587725:exon3:c.C686A:p.A229E;ENSG00000134444:ENST00000256858:exon3:c.C686A:p.A229E;	0.940773387600578	0.688
18	59888339	C	G	18	62221106	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon3:c.C686G:p.A229G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.C686G:p.A229G;ENSG00000134444:ENST00000587725:exon3:c.C686G:p.A229G;ENSG00000134444:ENST00000256858:exon3:c.C686G:p.A229G;	0.972437417222254	0.648
18	59888339	C	T	18	62221106	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon3:c.C686T:p.A229V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.C686T:p.A229V;ENSG00000134444:ENST00000587725:exon3:c.C686T:p.A229V;ENSG00000134444:ENST00000256858:exon3:c.C686T:p.A229V;	0.999847917456427	0.932
18	59888340	A	C	18	62221107	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon3:c.A687C:p.A229A;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.A687C:p.A229A;ENSG00000134444:ENST00000587725:exon3:c.A687C:p.A229A;ENSG00000134444:ENST00000256858:exon3:c.A687C:p.A229A;	0.99936065162417	0.944
18	59888340	A	G	18	62221107	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon3:c.A687G:p.A229A;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.A687G:p.A229A;ENSG00000134444:ENST00000587725:exon3:c.A687G:p.A229A;ENSG00000134444:ENST00000256858:exon3:c.A687G:p.A229A;	0.99945868166035	0.94
18	59888340	A	T	18	62221107	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon3:c.A687T:p.A229A;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.A687T:p.A229A;ENSG00000134444:ENST00000587725:exon3:c.A687T:p.A229A;ENSG00000134444:ENST00000256858:exon3:c.A687T:p.A229A;	0.999447297050089	0.94
18	59888341	G	A	18	62221108	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon3:c.G688A:p.E230K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.G688A:p.E230K;ENSG00000134444:ENST00000587725:exon3:c.G688A:p.E230K;ENSG00000134444:ENST00000256858:exon3:c.G688A:p.E230K;	0.99998844515175	0.99
18	59888341	G	C	18	62221108	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon3:c.G688C:p.E230Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon3:c.G688C:p.E230Q;ENSG00000134444:ENST00000587725:exon3:c.G688C:p.E230Q;ENSG00000134444:ENST00000256858:exon3:c.G688C:p.E230Q;	0.999992974884851	0.984
18	59888341	G	T	18	62221108	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon3:c.G688T:p.E230X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon3:c.G688T:p.E230X;ENSG00000134444:ENST00000587725:exon3:c.G688T:p.E230X;ENSG00000134444:ENST00000256858:exon3:c.G688T:p.E230X;	0.999990051839603	0.816
18	59888342	G	A	18	62221109	y	y	splicing	KIAA1468(NM_020854:exon3:c.688+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.688+1G>A;ENST00000398130:exon3:c.688+1G>A;ENST00000587725:exon3:c.688+1G>A)	.	.	0.999983315092066	0.906
18	59888342	G	C	18	62221109	y	y	splicing	KIAA1468(NM_020854:exon3:c.688+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.688+1G>C;ENST00000398130:exon3:c.688+1G>C;ENST00000587725:exon3:c.688+1G>C)	.	.	0.999983315092066	0.906
18	59888342	G	T	18	62221109	y	y	splicing	KIAA1468(NM_020854:exon3:c.688+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.688+1G>T;ENST00000398130:exon3:c.688+1G>T;ENST00000587725:exon3:c.688+1G>T)	.	.	0.999983315092066	0.906
18	59888343	T	A	18	62221110	y	y	splicing	KIAA1468(NM_020854:exon3:c.688+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.688+2T>A;ENST00000398130:exon3:c.688+2T>A;ENST00000587725:exon3:c.688+2T>A)	.	.	0.999926102992308	0.912
18	59888343	T	C	18	62221110	y	y	splicing	KIAA1468(NM_020854:exon3:c.688+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.688+2T>C;ENST00000398130:exon3:c.688+2T>C;ENST00000587725:exon3:c.688+2T>C)	.	.	0.999917937498926	0.912
18	59888343	T	G	18	62221110	y	y	splicing	KIAA1468(NM_020854:exon3:c.688+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon3:c.688+2T>G;ENST00000398130:exon3:c.688+2T>G;ENST00000587725:exon3:c.688+2T>G)	.	.	0.999926102992308	0.91
18	59888344	G	A	18	62221111	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00115972544330957	0.086
18	59888344	G	C	18	62221111	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995132588443269	0.62
18	59888344	G	T	18	62221111	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.971142166093996	0.652
18	59888345	G	A	18	62221112	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00110199469819316	0.086
18	59888345	G	C	18	62221112	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0233965032132178	0.332
18	59888345	G	T	18	62221112	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0219862800557207	0.198
18	59888346	T	A	18	62221113	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0108302106911475	0.104
18	59888346	T	C	18	62221113	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0033661747305506	0.122
18	59888346	T	G	18	62221113	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.9719608800433E-4	0.05
18	59888347	G	A	18	62221114	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0542112474963149	0.242
18	59888347	G	C	18	62221114	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00545330370905752	0.118
18	59888347	G	T	18	62221114	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00169641886621289	0.064
18	59888348	T	A	18	62221115	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00632365328842731	0.052
18	59888348	T	C	18	62221115	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00730609659040426	0.1
18	59888348	T	G	18	62221115	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00843797451397653	0.038
18	59888349	A	C	18	62221116	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00572299973050704	0.058
18	59888349	A	G	18	62221116	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00483327104400989	0.078
18	59888349	A	T	18	62221116	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00525783042874819	0.05
18	59888440	T	A	18	62221207	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.218804365833481	0.388
18	59888440	T	C	18	62221207	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0070316668036619	0.098
18	59888440	T	G	18	62221207	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.113509374407271	0.332
18	59888441	T	A	18	62221208	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0018067891288801	0.132
18	59888441	T	C	18	62221208	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.86972890257867E-4	0.05
18	59888441	T	G	18	62221208	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00320328416947622	0.146
18	59888442	T	A	18	62221209	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.27631712787989E-4	0.034
18	59888442	T	C	18	62221209	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.41213242278524E-4	0.026
18	59888442	T	G	18	62221209	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.33021551203633E-4	0.024
18	59888443	T	A	18	62221210	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00257166242414181	0.106
18	59888443	T	C	18	62221210	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00209906096905523	0.01
18	59888443	T	G	18	62221210	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00161351324872997	0.066
18	59888444	T	A	18	62221211	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.67088857215324E-4	0.068
18	59888444	T	C	18	62221211	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.36420883987123E-5	0.03
18	59888444	T	G	18	62221211	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.95999357400024E-5	0.068
18	59888445	C	A	18	62221212	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00273917513762913	0.144
18	59888445	C	G	18	62221212	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00207217052572397	0.154
18	59888445	C	T	18	62221212	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.6958367985035E-5	0.006
18	59888446	C	A	18	62221213	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0518833498083537	0.35
18	59888446	C	G	18	62221213	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.154113836679596	0.388
18	59888446	C	T	18	62221213	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.29901259328699E-4	0.076
18	59888447	A	C	18	62221214	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.28530982815529E-4	0.002
18	59888447	A	G	18	62221214	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.09658491607017E-4	0.02
18	59888447	A	T	18	62221214	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.18955392038718E-4	0.0
18	59888448	C	A	18	62221215	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.18064919524437E-5	0.0
18	59888448	C	G	18	62221215	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.5915071459474	0.592
18	59888448	C	T	18	62221215	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.92028964280189E-4	0.0
18	59888449	C	A	18	62221216	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.894345806312507	0.764
18	59888449	C	G	18	62221216	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998433684383907	0.892
18	59888449	C	T	18	62221216	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.016740444687754	0.134
18	59888450	A	C	18	62221217	y	y	splicing	KIAA1468(NM_020854:exon4:c.689-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.689-2A>C;ENST00000398130:exon4:c.689-2A>C;ENST00000587725:exon4:c.689-2A>C)	.	.	0.999988247793601	0.928
18	59888450	A	G	18	62221217	y	y	splicing	KIAA1468(NM_020854:exon4:c.689-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.689-2A>G;ENST00000398130:exon4:c.689-2A>G;ENST00000587725:exon4:c.689-2A>G)	.	.	0.999988247793601	0.928
18	59888450	A	T	18	62221217	y	y	splicing	KIAA1468(NM_020854:exon4:c.689-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.689-2A>T;ENST00000398130:exon4:c.689-2A>T;ENST00000587725:exon4:c.689-2A>T)	.	.	0.999988247793601	0.928
18	59888451	G	A	18	62221218	y	y	splicing	KIAA1468(NM_020854:exon4:c.689-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.689-1G>A;ENST00000398130:exon4:c.689-1G>A;ENST00000587725:exon4:c.689-1G>A)	.	.	0.999990361384395	0.938
18	59888451	G	C	18	62221218	y	y	splicing	KIAA1468(NM_020854:exon4:c.689-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.689-1G>C;ENST00000398130:exon4:c.689-1G>C;ENST00000587725:exon4:c.689-1G>C)	.	.	0.999990361384395	0.936
18	59888451	G	T	18	62221218	y	y	splicing	KIAA1468(NM_020854:exon4:c.689-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.689-1G>T;ENST00000398130:exon4:c.689-1G>T;ENST00000587725:exon4:c.689-1G>T)	.	.	0.999990361384395	0.938
18	59888452	A	C	18	62221219	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.A689C:p.E230A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A689C:p.E230A;ENSG00000134444:ENST00000587725:exon4:c.A689C:p.E230A;ENSG00000134444:ENST00000256858:exon4:c.A689C:p.E230A;	0.603144247829147	0.492
18	59888452	A	G	18	62221219	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.A689G:p.E230G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A689G:p.E230G;ENSG00000134444:ENST00000587725:exon4:c.A689G:p.E230G;ENSG00000134444:ENST00000256858:exon4:c.A689G:p.E230G;	0.0564398370876253	0.296
18	59888452	A	T	18	62221219	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.A689T:p.E230V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A689T:p.E230V;ENSG00000134444:ENST00000587725:exon4:c.A689T:p.E230V;ENSG00000134444:ENST00000256858:exon4:c.A689T:p.E230V;	0.645983434906232	0.512
18	59888453	A	C	18	62221220	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.A690C:p.E230D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A690C:p.E230D;ENSG00000134444:ENST00000587725:exon4:c.A690C:p.E230D;ENSG00000134444:ENST00000256858:exon4:c.A690C:p.E230D;	3.62109103427897E-4	0.014
18	59888453	A	G	18	62221220	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon4:c.A690G:p.E230E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A690G:p.E230E;ENSG00000134444:ENST00000587725:exon4:c.A690G:p.E230E;ENSG00000134444:ENST00000256858:exon4:c.A690G:p.E230E;	1.42994531641116E-4	0.054
18	59888453	A	T	18	62221220	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.A690T:p.E230D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A690T:p.E230D;ENSG00000134444:ENST00000587725:exon4:c.A690T:p.E230D;ENSG00000134444:ENST00000256858:exon4:c.A690T:p.E230D;	4.48836836533432E-5	0.0
18	59888505	C	A	18	62221272	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.C742A:p.Q248K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.C742A:p.Q248K;ENSG00000134444:ENST00000587725:exon4:c.C742A:p.Q248K;ENSG00000134444:ENST00000256858:exon4:c.C742A:p.Q248K;	0.84360905240012	0.626
18	59888505	C	G	18	62221272	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.C742G:p.Q248E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.C742G:p.Q248E;ENSG00000134444:ENST00000587725:exon4:c.C742G:p.Q248E;ENSG00000134444:ENST00000256858:exon4:c.C742G:p.Q248E;	0.0119511516534124	0.226
18	59888505	C	T	18	62221272	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon4:c.C742T:p.Q248X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon4:c.C742T:p.Q248X;ENSG00000134444:ENST00000587725:exon4:c.C742T:p.Q248X;ENSG00000134444:ENST00000256858:exon4:c.C742T:p.Q248X;	0.998780625705685	0.842
18	59888506	A	C	18	62221273	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.A743C:p.Q248P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A743C:p.Q248P;ENSG00000134444:ENST00000587725:exon4:c.A743C:p.Q248P;ENSG00000134444:ENST00000256858:exon4:c.A743C:p.Q248P;	0.934355948975168	0.796
18	59888506	A	G	18	62221273	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.A743G:p.Q248R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A743G:p.Q248R;ENSG00000134444:ENST00000587725:exon4:c.A743G:p.Q248R;ENSG00000134444:ENST00000256858:exon4:c.A743G:p.Q248R;	0.976426192727612	0.722
18	59888506	A	T	18	62221273	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.A743T:p.Q248L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.A743T:p.Q248L;ENSG00000134444:ENST00000587725:exon4:c.A743T:p.Q248L;ENSG00000134444:ENST00000256858:exon4:c.A743T:p.Q248L;	0.997800097749525	0.926
18	59888507	G	A	18	62221274	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon4:c.G744A:p.Q248Q;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.G744A:p.Q248Q;ENSG00000134444:ENST00000587725:exon4:c.G744A:p.Q248Q;ENSG00000134444:ENST00000256858:exon4:c.G744A:p.Q248Q;	0.999978173793422	0.986
18	59888507	G	C	18	62221274	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.G744C:p.Q248H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.G744C:p.Q248H;ENSG00000134444:ENST00000587725:exon4:c.G744C:p.Q248H;ENSG00000134444:ENST00000256858:exon4:c.G744C:p.Q248H;	0.999997179430237	0.996
18	59888507	G	T	18	62221274	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon4:c.G744T:p.Q248H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon4:c.G744T:p.Q248H;ENSG00000134444:ENST00000587725:exon4:c.G744T:p.Q248H;ENSG00000134444:ENST00000256858:exon4:c.G744T:p.Q248H;	0.999994617055559	1.0
18	59888508	G	A	18	62221275	y	y	splicing	KIAA1468(NM_020854:exon4:c.744+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.744+1G>A;ENST00000398130:exon4:c.744+1G>A;ENST00000587725:exon4:c.744+1G>A)	.	.	0.999990361384395	0.936
18	59888508	G	C	18	62221275	y	y	splicing	KIAA1468(NM_020854:exon4:c.744+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.744+1G>C;ENST00000398130:exon4:c.744+1G>C;ENST00000587725:exon4:c.744+1G>C)	.	.	0.999982737877662	0.936
18	59888508	G	T	18	62221275	y	y	splicing	KIAA1468(NM_020854:exon4:c.744+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.744+1G>T;ENST00000398130:exon4:c.744+1G>T;ENST00000587725:exon4:c.744+1G>T)	.	.	0.999982737877662	0.934
18	59888509	T	A	18	62221276	y	y	splicing	KIAA1468(NM_020854:exon4:c.744+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.744+2T>A;ENST00000398130:exon4:c.744+2T>A;ENST00000587725:exon4:c.744+2T>A)	.	.	0.99994568797423	0.938
18	59888509	T	C	18	62221276	y	y	splicing	KIAA1468(NM_020854:exon4:c.744+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.744+2T>C;ENST00000398130:exon4:c.744+2T>C;ENST00000587725:exon4:c.744+2T>C)	.	.	0.999688424215117	0.926
18	59888509	T	G	18	62221276	y	y	splicing	KIAA1468(NM_020854:exon4:c.744+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon4:c.744+2T>G;ENST00000398130:exon4:c.744+2T>G;ENST00000587725:exon4:c.744+2T>G)	.	.	0.99994568797423	0.942
18	59888510	G	A	18	62221277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.85831793234759E-5	0.06
18	59888510	G	C	18	62221277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00885267990674159	0.274
18	59888510	G	T	18	62221277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0558210924142822	0.254
18	59888511	G	A	18	62221278	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.29252860635281E-5	0.04
18	59888511	G	C	18	62221278	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.01888123746769E-5	0.024
18	59888511	G	T	18	62221278	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.7198961359646E-5	0.046
18	59888512	G	A	18	62221279	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997904701927812	0.668
18	59888512	G	C	18	62221279	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999962783960576	0.84
18	59888512	G	T	18	62221279	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999226157953933	0.718
18	59888513	T	A	18	62221280	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.153207399167554	0.416
18	59888513	T	C	18	62221280	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0908368023335819	0.366
18	59888513	T	G	18	62221280	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0318507833641683	0.366
18	59888514	G	A	18	62221281	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.04818404872664E-4	0.126
18	59888514	G	C	18	62221281	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.03010083380271E-4	0.122
18	59888514	G	T	18	62221281	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.93169241626849E-4	0.1
18	59888515	A	C	18	62221282	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.16342083902264E-4	0.018
18	59888515	A	G	18	62221282	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.84953950970725E-4	0.054
18	59888515	A	T	18	62221282	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.14941199686342E-4	0.018
18	59888605	T	A	18	62221372	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.443358917722184	0.618
18	59888605	T	C	18	62221372	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.21166082899081E-4	0.006
18	59888605	T	G	18	62221372	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999844227075316	0.938
18	59888606	T	A	18	62221373	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.726875260202123	0.69
18	59888606	T	C	18	62221373	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00805628498791765	0.218
18	59888606	T	G	18	62221373	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.529339686060115	0.636
18	59888607	T	A	18	62221374	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.583947377057535	0.688
18	59888607	T	C	18	62221374	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00108451569072305	0.016
18	59888607	T	G	18	62221374	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.388365821424065	0.534
18	59888608	T	A	18	62221375	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999831236126345	0.924
18	59888608	T	C	18	62221375	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0042421036367717	0.056
18	59888608	T	G	18	62221375	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.816984586419683	0.68
18	59888609	G	A	18	62221376	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.55732795064064E-5	0.002
18	59888609	G	C	18	62221376	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.56825897569264E-5	0.0
18	59888609	G	T	18	62221376	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.90503869009931E-5	0.0
18	59888610	C	A	18	62221377	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00472265772815425	0.116
18	59888610	C	G	18	62221377	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.09443216302987E-4	0.138
18	59888610	C	T	18	62221377	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.33524252021586E-5	0.006
18	59888611	T	A	18	62221378	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.224577982698854	0.342
18	59888611	T	C	18	62221378	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.14560100132522E-4	0.0
18	59888611	T	G	18	62221378	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.175250058130438	0.412
18	59888612	T	A	18	62221379	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.371564104929797	0.466
18	59888612	T	C	18	62221379	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0176175304128715	0.098
18	59888612	T	G	18	62221379	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.583787109971514	0.506
18	59888613	C	A	18	62221380	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.23476456190856E-5	0.0
18	59888613	C	G	18	62221380	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.13545327611362E-5	0.0
18	59888613	C	T	18	62221380	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.13545327611362E-5	0.0
18	59888614	C	A	18	62221381	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.705726748218988	0.494
18	59888614	C	G	18	62221381	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.979563824453023	0.722
18	59888614	C	T	18	62221381	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.15804540983927E-4	0.016
18	59888615	A	C	18	62221382	y	y	splicing	KIAA1468(NM_020854:exon5:c.745-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.745-2A>C;ENST00000398130:exon5:c.745-2A>C;ENST00000587725:exon5:c.745-2A>C)	.	.	0.999988247793601	0.928
18	59888615	A	G	18	62221382	y	y	splicing	KIAA1468(NM_020854:exon5:c.745-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.745-2A>G;ENST00000398130:exon5:c.745-2A>G;ENST00000587725:exon5:c.745-2A>G)	.	.	0.999988247793601	0.928
18	59888615	A	T	18	62221382	y	y	splicing	KIAA1468(NM_020854:exon5:c.745-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.745-2A>T;ENST00000398130:exon5:c.745-2A>T;ENST00000587725:exon5:c.745-2A>T)	.	.	0.999988247793601	0.928
18	59888616	G	A	18	62221383	y	y	splicing	KIAA1468(NM_020854:exon5:c.745-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.745-1G>A;ENST00000398130:exon5:c.745-1G>A;ENST00000587725:exon5:c.745-1G>A)	.	.	0.999990361384395	0.938
18	59888616	G	C	18	62221383	y	y	splicing	KIAA1468(NM_020854:exon5:c.745-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.745-1G>C;ENST00000398130:exon5:c.745-1G>C;ENST00000587725:exon5:c.745-1G>C)	.	.	0.999990361384395	0.938
18	59888616	G	T	18	62221383	y	y	splicing	KIAA1468(NM_020854:exon5:c.745-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.745-1G>T;ENST00000398130:exon5:c.745-1G>T;ENST00000587725:exon5:c.745-1G>T)	.	.	0.999990361384395	0.938
18	59888617	G	A	18	62221384	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.G745A:p.E249K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.G745A:p.E249K;ENSG00000134444:ENST00000587725:exon5:c.G745A:p.E249K;ENSG00000134444:ENST00000256858:exon5:c.G745A:p.E249K;	0.999246536971447	0.914
18	59888617	G	C	18	62221384	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.G745C:p.E249Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.G745C:p.E249Q;ENSG00000134444:ENST00000587725:exon5:c.G745C:p.E249Q;ENSG00000134444:ENST00000256858:exon5:c.G745C:p.E249Q;	0.999542927456694	0.978
18	59888617	G	T	18	62221384	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon5:c.G745T:p.E249X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon5:c.G745T:p.E249X;ENSG00000134444:ENST00000587725:exon5:c.G745T:p.E249X;ENSG00000134444:ENST00000256858:exon5:c.G745T:p.E249X;	0.999812728889509	0.988
18	59888618	A	C	18	62221385	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.A746C:p.E249A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.A746C:p.E249A;ENSG00000134444:ENST00000587725:exon5:c.A746C:p.E249A;ENSG00000134444:ENST00000256858:exon5:c.A746C:p.E249A;	0.93195959947065	0.86
18	59888618	A	G	18	62221385	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.A746G:p.E249G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.A746G:p.E249G;ENSG00000134444:ENST00000587725:exon5:c.A746G:p.E249G;ENSG00000134444:ENST00000256858:exon5:c.A746G:p.E249G;	0.852564486143619	0.738
18	59888618	A	T	18	62221385	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.A746T:p.E249V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.A746T:p.E249V;ENSG00000134444:ENST00000587725:exon5:c.A746T:p.E249V;ENSG00000134444:ENST00000256858:exon5:c.A746T:p.E249V;	0.82073506300706	0.82
18	59888728	C	A	18	62221495	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.C856A:p.Q286K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.C856A:p.Q286K;ENSG00000134444:ENST00000587725:exon5:c.C856A:p.Q286K;ENSG00000134444:ENST00000256858:exon5:c.C856A:p.Q286K;	0.964608106671268	0.774
18	59888728	C	G	18	62221495	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.C856G:p.Q286E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.C856G:p.Q286E;ENSG00000134444:ENST00000587725:exon5:c.C856G:p.Q286E;ENSG00000134444:ENST00000256858:exon5:c.C856G:p.Q286E;	0.967289047474096	0.656
18	59888728	C	T	18	62221495	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon5:c.C856T:p.Q286X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon5:c.C856T:p.Q286X;ENSG00000134444:ENST00000587725:exon5:c.C856T:p.Q286X;ENSG00000134444:ENST00000256858:exon5:c.C856T:p.Q286X;	0.99987300998332	0.982
18	59888729	A	C	18	62221496	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.A857C:p.Q286P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.A857C:p.Q286P;ENSG00000134444:ENST00000587725:exon5:c.A857C:p.Q286P;ENSG00000134444:ENST00000256858:exon5:c.A857C:p.Q286P;	0.999874703800308	0.998
18	59888729	A	G	18	62221496	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.A857G:p.Q286R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.A857G:p.Q286R;ENSG00000134444:ENST00000587725:exon5:c.A857G:p.Q286R;ENSG00000134444:ENST00000256858:exon5:c.A857G:p.Q286R;	0.999950958515785	1.0
18	59888729	A	T	18	62221496	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.A857T:p.Q286L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.A857T:p.Q286L;ENSG00000134444:ENST00000587725:exon5:c.A857T:p.Q286L;ENSG00000134444:ENST00000256858:exon5:c.A857T:p.Q286L;	0.999902887093245	1.0
18	59888730	G	A	18	62221497	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon5:c.G858A:p.Q286Q;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.G858A:p.Q286Q;ENSG00000134444:ENST00000587725:exon5:c.G858A:p.Q286Q;ENSG00000134444:ENST00000256858:exon5:c.G858A:p.Q286Q;	0.999955087897264	0.994
18	59888730	G	C	18	62221497	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.G858C:p.Q286H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.G858C:p.Q286H;ENSG00000134444:ENST00000587725:exon5:c.G858C:p.Q286H;ENSG00000134444:ENST00000256858:exon5:c.G858C:p.Q286H;	0.999998122414291	1.0
18	59888730	G	T	18	62221497	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon5:c.G858T:p.Q286H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon5:c.G858T:p.Q286H;ENSG00000134444:ENST00000587725:exon5:c.G858T:p.Q286H;ENSG00000134444:ENST00000256858:exon5:c.G858T:p.Q286H;	0.999990237023714	0.998
18	59888731	G	A	18	62221498	y	y	splicing	KIAA1468(NM_020854:exon5:c.858+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.858+1G>A;ENST00000398130:exon5:c.858+1G>A;ENST00000587725:exon5:c.858+1G>A)	.	.	0.999990361384395	0.938
18	59888731	G	C	18	62221498	y	y	splicing	KIAA1468(NM_020854:exon5:c.858+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.858+1G>C;ENST00000398130:exon5:c.858+1G>C;ENST00000587725:exon5:c.858+1G>C)	.	.	0.999990361384395	0.938
18	59888731	G	T	18	62221498	y	y	splicing	KIAA1468(NM_020854:exon5:c.858+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.858+1G>T;ENST00000398130:exon5:c.858+1G>T;ENST00000587725:exon5:c.858+1G>T)	.	.	0.999990361384395	0.938
18	59888732	T	A	18	62221499	y	y	splicing	KIAA1468(NM_020854:exon5:c.858+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.858+2T>A;ENST00000398130:exon5:c.858+2T>A;ENST00000587725:exon5:c.858+2T>A)	.	.	0.999988247793601	0.928
18	59888732	T	C	18	62221499	y	y	splicing	KIAA1468(NM_020854:exon5:c.858+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.858+2T>C;ENST00000398130:exon5:c.858+2T>C;ENST00000587725:exon5:c.858+2T>C)	.	.	0.98918007292081	0.678
18	59888732	T	G	18	62221499	y	y	splicing	KIAA1468(NM_020854:exon5:c.858+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon5:c.858+2T>G;ENST00000398130:exon5:c.858+2T>G;ENST00000587725:exon5:c.858+2T>G)	.	.	0.999988247793601	0.928
18	59888733	A	C	18	62221500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999875313177063	0.956
18	59888733	A	G	18	62221500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.941568033859494	0.676
18	59888733	A	T	18	62221500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999233115718966	0.93
18	59888734	A	C	18	62221501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.218904539279368	0.392
18	59888734	A	G	18	62221501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.30214648955402	0.476
18	59888734	A	T	18	62221501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.342792639753618	0.392
18	59888735	A	C	18	62221502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.7464357262983E-5	0.028
18	59888735	A	G	18	62221502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.85593709981652E-4	0.042
18	59888735	A	T	18	62221502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.34994954162712E-4	0.01
18	59888736	G	A	18	62221503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.53758699899529E-5	0.0
18	59888736	G	C	18	62221503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.37774653807459E-4	0.02
18	59888736	G	T	18	62221503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.27464205879284E-5	0.0
18	59888737	T	A	18	62221504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.1577034869657E-4	0.0
18	59888737	T	C	18	62221504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.34654392198242E-4	0.002
18	59888737	T	G	18	62221504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.40880346859046E-5	0.0
18	59888738	T	A	18	62221505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.40986382536992E-5	0.002
18	59888738	T	C	18	62221505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.61024269432647E-5	0.0
18	59888738	T	G	18	62221505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.02328931901169E-5	0.0
18	59894510	T	A	18	62227277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.07040535388014E-5	0.062
18	59894510	T	C	18	62227277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.05357010876634E-5	0.004
18	59894510	T	G	18	62227277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.22861941083026E-4	0.082
18	59894511	T	A	18	62227278	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.05001461059101E-4	0.05
18	59894511	T	C	18	62227278	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.07849203452592E-5	0.0
18	59894511	T	G	18	62227278	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.2054469501231E-4	0.052
18	59894512	T	A	18	62227279	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.05921023975948E-4	0.026
18	59894512	T	C	18	62227279	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.92387334117457E-5	0.002
18	59894512	T	G	18	62227279	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.17746998229589E-4	0.072
18	59894513	A	C	18	62227280	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.84581246381639E-5	0.0
18	59894513	A	G	18	62227280	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.0110485024962E-5	0.0
18	59894513	A	T	18	62227280	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.34095638770928E-5	0.018
18	59894514	T	A	18	62227281	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.46008221957348E-5	0.012
18	59894514	T	C	18	62227281	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.68074907367373E-6	0.004
18	59894514	T	G	18	62227281	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.924735546924313	0.69
18	59894515	C	A	18	62227282	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.68337706535333E-4	0.022
18	59894515	C	G	18	62227282	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.56221748025355E-4	0.018
18	59894515	C	T	18	62227282	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.45531293950989E-5	0.002
18	59894516	T	A	18	62227283	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00410974713342503	0.146
18	59894516	T	C	18	62227283	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.83628472931889E-5	0.0
18	59894516	T	G	18	62227283	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00235498120287498	0.076
18	59894517	T	A	18	62227284	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00425186870422948	0.242
18	59894517	T	C	18	62227284	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.70015961979746E-4	0.024
18	59894517	T	G	18	62227284	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0185772224759303	0.234
18	59894518	T	A	18	62227285	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00284729828412615	0.064
18	59894518	T	C	18	62227285	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.85273973272109E-4	0.004
18	59894518	T	G	18	62227285	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.72271091895481E-4	0.012
18	59894519	T	A	18	62227286	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00579012058509633	0.128
18	59894519	T	C	18	62227286	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.97931525341664E-5	0.01
18	59894519	T	G	18	62227286	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.516432166124473	0.494
18	59894520	A	C	18	62227287	y	y	splicing	KIAA1468(NM_020854:exon6:c.859-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.859-2A>C;ENST00000398130:exon6:c.859-2A>C;ENST00000587725:exon6:c.859-2A>C)	.	.	0.999988247793601	0.932
18	59894520	A	G	18	62227287	y	y	splicing	KIAA1468(NM_020854:exon6:c.859-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.859-2A>G;ENST00000398130:exon6:c.859-2A>G;ENST00000587725:exon6:c.859-2A>G)	.	.	0.999988247793601	0.932
18	59894520	A	T	18	62227287	y	y	splicing	KIAA1468(NM_020854:exon6:c.859-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.859-2A>T;ENST00000398130:exon6:c.859-2A>T;ENST00000587725:exon6:c.859-2A>T)	.	.	0.999988247793601	0.932
18	59894521	G	A	18	62227288	y	y	splicing	KIAA1468(NM_020854:exon6:c.859-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.859-1G>A;ENST00000398130:exon6:c.859-1G>A;ENST00000587725:exon6:c.859-1G>A)	.	.	0.999989072007339	0.934
18	59894521	G	C	18	62227288	y	y	splicing	KIAA1468(NM_020854:exon6:c.859-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.859-1G>C;ENST00000398130:exon6:c.859-1G>C;ENST00000587725:exon6:c.859-1G>C)	.	.	0.999989072007339	0.934
18	59894521	G	T	18	62227288	y	y	splicing	KIAA1468(NM_020854:exon6:c.859-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.859-1G>T;ENST00000398130:exon6:c.859-1G>T;ENST00000587725:exon6:c.859-1G>T)	.	.	0.999989072007339	0.934
18	59894522	G	A	18	62227289	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.G859A:p.D287N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.G859A:p.D287N;ENSG00000134444:ENST00000587725:exon6:c.G859A:p.D287N;ENSG00000134444:ENST00000256858:exon6:c.G859A:p.D287N;	0.997765875242298	0.844
18	59894522	G	C	18	62227289	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.G859C:p.D287H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.G859C:p.D287H;ENSG00000134444:ENST00000587725:exon6:c.G859C:p.D287H;ENSG00000134444:ENST00000256858:exon6:c.G859C:p.D287H;	0.998679113789491	0.908
18	59894522	G	T	18	62227289	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.G859T:p.D287Y;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.G859T:p.D287Y;ENSG00000134444:ENST00000587725:exon6:c.G859T:p.D287Y;ENSG00000134444:ENST00000256858:exon6:c.G859T:p.D287Y;	0.999098281627668	0.886
18	59894523	A	C	18	62227290	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.A860C:p.D287A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.A860C:p.D287A;ENSG00000134444:ENST00000587725:exon6:c.A860C:p.D287A;ENSG00000134444:ENST00000256858:exon6:c.A860C:p.D287A;	0.832158528704652	0.75
18	59894523	A	G	18	62227290	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.A860G:p.D287G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.A860G:p.D287G;ENSG00000134444:ENST00000587725:exon6:c.A860G:p.D287G;ENSG00000134444:ENST00000256858:exon6:c.A860G:p.D287G;	0.81075560982837	0.538
18	59894523	A	T	18	62227290	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.A860T:p.D287V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.A860T:p.D287V;ENSG00000134444:ENST00000587725:exon6:c.A860T:p.D287V;ENSG00000134444:ENST00000256858:exon6:c.A860T:p.D287V;	0.800268844670463	0.732
18	59894723	G	A	18	62227490	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.G1060A:p.E354K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.G1060A:p.E354K;ENSG00000134444:ENST00000587725:exon6:c.G1060A:p.E354K;ENSG00000134444:ENST00000256858:exon6:c.G1060A:p.E354K;	0.331035850703876	0.472
18	59894723	G	C	18	62227490	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.G1060C:p.E354Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.G1060C:p.E354Q;ENSG00000134444:ENST00000587725:exon6:c.G1060C:p.E354Q;ENSG00000134444:ENST00000256858:exon6:c.G1060C:p.E354Q;	7.91637426918535E-4	0.022
18	59894723	G	T	18	62227490	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon6:c.G1060T:p.E354X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon6:c.G1060T:p.E354X;ENSG00000134444:ENST00000587725:exon6:c.G1060T:p.E354X;ENSG00000134444:ENST00000256858:exon6:c.G1060T:p.E354X;	0.592603225705498	0.558
18	59894724	A	C	18	62227491	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.A1061C:p.E354A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.A1061C:p.E354A;ENSG00000134444:ENST00000587725:exon6:c.A1061C:p.E354A;ENSG00000134444:ENST00000256858:exon6:c.A1061C:p.E354A;	0.994519111628421	0.94
18	59894724	A	G	18	62227491	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.A1061G:p.E354G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.A1061G:p.E354G;ENSG00000134444:ENST00000587725:exon6:c.A1061G:p.E354G;ENSG00000134444:ENST00000256858:exon6:c.A1061G:p.E354G;	0.999905772394599	1.0
18	59894724	A	T	18	62227491	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.A1061T:p.E354V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.A1061T:p.E354V;ENSG00000134444:ENST00000587725:exon6:c.A1061T:p.E354V;ENSG00000134444:ENST00000256858:exon6:c.A1061T:p.E354V;	0.999790373876254	0.998
18	59894725	G	A	18	62227492	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon6:c.G1062A:p.E354E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.G1062A:p.E354E;ENSG00000134444:ENST00000587725:exon6:c.G1062A:p.E354E;ENSG00000134444:ENST00000256858:exon6:c.G1062A:p.E354E;	0.998789273079004	0.964
18	59894725	G	C	18	62227492	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.G1062C:p.E354D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.G1062C:p.E354D;ENSG00000134444:ENST00000587725:exon6:c.G1062C:p.E354D;ENSG00000134444:ENST00000256858:exon6:c.G1062C:p.E354D;	0.999991624941654	0.996
18	59894725	G	T	18	62227492	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon6:c.G1062T:p.E354D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon6:c.G1062T:p.E354D;ENSG00000134444:ENST00000587725:exon6:c.G1062T:p.E354D;ENSG00000134444:ENST00000256858:exon6:c.G1062T:p.E354D;	0.999737408886012	0.94
18	59894726	G	A	18	62227493	y	y	splicing	KIAA1468(NM_020854:exon6:c.1062+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.1062+1G>A;ENST00000398130:exon6:c.1062+1G>A;ENST00000587725:exon6:c.1062+1G>A)	.	.	0.999949496871441	0.942
18	59894726	G	C	18	62227493	y	y	splicing	KIAA1468(NM_020854:exon6:c.1062+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.1062+1G>C;ENST00000398130:exon6:c.1062+1G>C;ENST00000587725:exon6:c.1062+1G>C)	.	.	0.999949496871441	0.946
18	59894726	G	T	18	62227493	y	y	splicing	KIAA1468(NM_020854:exon6:c.1062+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.1062+1G>T;ENST00000398130:exon6:c.1062+1G>T;ENST00000587725:exon6:c.1062+1G>T)	.	.	0.999949496871441	0.946
18	59894727	T	A	18	62227494	y	y	splicing	KIAA1468(NM_020854:exon6:c.1062+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.1062+2T>A;ENST00000398130:exon6:c.1062+2T>A;ENST00000587725:exon6:c.1062+2T>A)	.	.	0.999946188727699	0.948
18	59894727	T	C	18	62227494	y	y	splicing	KIAA1468(NM_020854:exon6:c.1062+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.1062+2T>C;ENST00000398130:exon6:c.1062+2T>C;ENST00000587725:exon6:c.1062+2T>C)	.	.	0.999721011602728	0.908
18	59894727	T	G	18	62227494	y	y	splicing	KIAA1468(NM_020854:exon6:c.1062+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon6:c.1062+2T>G;ENST00000398130:exon6:c.1062+2T>G;ENST00000587725:exon6:c.1062+2T>G)	.	.	0.999946188727699	0.944
18	59894728	G	A	18	62227495	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.24852728661349E-5	0.004
18	59894728	G	C	18	62227495	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.029809650705624	0.272
18	59894728	G	T	18	62227495	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0472479188619978	0.348
18	59894729	A	C	18	62227496	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.595972106262834	0.51
18	59894729	A	G	18	62227496	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.942378193776391	0.626
18	59894729	A	T	18	62227496	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.935383593718033	0.554
18	59894730	G	A	18	62227497	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.937760890395553	0.648
18	59894730	G	C	18	62227497	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.926564913586319	0.684
18	59894730	G	T	18	62227497	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.947580668027421	0.658
18	59894731	A	C	18	62227498	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.52166217151128E-5	0.016
18	59894731	A	G	18	62227498	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.18131744863577E-6	0.02
18	59894731	A	T	18	62227498	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.92494640104585E-5	0.016
18	59894732	G	A	18	62227499	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.16627751331285E-5	0.034
18	59894732	G	C	18	62227499	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.16627751331285E-5	0.012
18	59894732	G	T	18	62227499	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.04495478002034E-4	0.006
18	59894733	A	C	18	62227500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.93340606550261E-6	0.0
18	59894733	A	G	18	62227500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.26603475107635E-5	0.0
18	59894733	A	T	18	62227500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.86074317526582E-5	0.0
18	59894819	T	A	18	62227586	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.57659607867773	0.65
18	59894819	T	C	18	62227586	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.67989737488725E-4	0.04
18	59894819	T	G	18	62227586	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.546839991175134	0.568
18	59894820	T	A	18	62227587	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.909302762819147	0.774
18	59894820	T	C	18	62227587	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0109812061697424	0.216
18	59894820	T	G	18	62227587	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.742959201488486	0.62
18	59894821	T	A	18	62227588	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999275532617008	0.91
18	59894821	T	C	18	62227588	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.658231119956668	0.35
18	59894821	T	G	18	62227588	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998827388726392	0.908
18	59894822	T	A	18	62227589	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999986621222314	0.972
18	59894822	T	C	18	62227589	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.525065289787629	0.376
18	59894822	T	G	18	62227589	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999534600027293	0.87
18	59894823	G	A	18	62227590	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00100761580146977	0.076
18	59894823	G	C	18	62227590	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.39477575896839E-4	0.012
18	59894823	G	T	18	62227590	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.32566522014347E-4	0.016
18	59894824	A	C	18	62227591	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.75850998044238E-5	0.002
18	59894824	A	G	18	62227591	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.79294569409896E-5	0.012
18	59894824	A	T	18	62227591	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.75850998044238E-5	0.0
18	59894825	T	A	18	62227592	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.845655739189417	0.684
18	59894825	T	C	18	62227592	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0031361347068669	0.098
18	59894825	T	G	18	62227592	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999684193735886	0.912
18	59894826	T	A	18	62227593	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997936601173576	0.936
18	59894826	T	C	18	62227593	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.106718882196301	0.298
18	59894826	T	G	18	62227593	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997139357813694	0.926
18	59894827	T	A	18	62227594	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0391147196445634	0.148
18	59894827	T	C	18	62227594	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00238445896372569	0.06
18	59894827	T	G	18	62227594	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0541369850635804	0.174
18	59894828	T	A	18	62227595	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.422961661260007	0.302
18	59894828	T	C	18	62227595	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.9186332635344E-4	0.004
18	59894828	T	G	18	62227595	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997561269100631	0.848
18	59894829	A	C	18	62227596	y	y	splicing	KIAA1468(NM_020854:exon7:c.1063-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1063-2A>C;ENST00000398130:exon7:c.1063-2A>C;ENST00000587725:exon7:c.1063-2A>C)	.	.	0.999988247793601	0.93
18	59894829	A	G	18	62227596	y	y	splicing	KIAA1468(NM_020854:exon7:c.1063-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1063-2A>G;ENST00000398130:exon7:c.1063-2A>G;ENST00000587725:exon7:c.1063-2A>G)	.	.	0.999988247793601	0.93
18	59894829	A	T	18	62227596	y	y	splicing	KIAA1468(NM_020854:exon7:c.1063-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1063-2A>T;ENST00000398130:exon7:c.1063-2A>T;ENST00000587725:exon7:c.1063-2A>T)	.	.	0.999988247793601	0.932
18	59894830	G	A	18	62227597	y	y	splicing	KIAA1468(NM_020854:exon7:c.1063-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1063-1G>A;ENST00000398130:exon7:c.1063-1G>A;ENST00000587725:exon7:c.1063-1G>A)	.	.	0.999989072007339	0.934
18	59894830	G	C	18	62227597	y	y	splicing	KIAA1468(NM_020854:exon7:c.1063-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1063-1G>C;ENST00000398130:exon7:c.1063-1G>C;ENST00000587725:exon7:c.1063-1G>C)	.	.	0.999989072007339	0.934
18	59894830	G	T	18	62227597	y	y	splicing	KIAA1468(NM_020854:exon7:c.1063-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1063-1G>T;ENST00000398130:exon7:c.1063-1G>T;ENST00000587725:exon7:c.1063-1G>T)	.	.	0.999989072007339	0.934
18	59894831	A	C	18	62227598	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1063C:p.N355H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1063C:p.N355H;ENSG00000134444:ENST00000587725:exon7:c.A1063C:p.N355H;ENSG00000134444:ENST00000256858:exon7:c.A1063C:p.N355H;	0.646317151706015	0.544
18	59894831	A	G	18	62227598	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1063G:p.N355D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1063G:p.N355D;ENSG00000134444:ENST00000587725:exon7:c.A1063G:p.N355D;ENSG00000134444:ENST00000256858:exon7:c.A1063G:p.N355D;	0.00182402077108803	0.01
18	59894831	A	T	18	62227598	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1063T:p.N355Y;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1063T:p.N355Y;ENSG00000134444:ENST00000587725:exon7:c.A1063T:p.N355Y;ENSG00000134444:ENST00000256858:exon7:c.A1063T:p.N355Y;	0.533344050028475	0.496
18	59894832	A	C	18	62227599	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1064C:p.N355T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1064C:p.N355T;ENSG00000134444:ENST00000587725:exon7:c.A1064C:p.N355T;ENSG00000134444:ENST00000256858:exon7:c.A1064C:p.N355T;	8.62112217247144E-4	0.02
18	59894832	A	G	18	62227599	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1064G:p.N355S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1064G:p.N355S;ENSG00000134444:ENST00000587725:exon7:c.A1064G:p.N355S;ENSG00000134444:ENST00000256858:exon7:c.A1064G:p.N355S;	6.90054055835099E-4	0.016
18	59894832	A	T	18	62227599	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1064T:p.N355I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1064T:p.N355I;ENSG00000134444:ENST00000587725:exon7:c.A1064T:p.N355I;ENSG00000134444:ENST00000256858:exon7:c.A1064T:p.N355I;	0.00363690702738362	0.092
18	59894920	A	C	18	62227687	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1152C:p.K384N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1152C:p.K384N;ENSG00000134444:ENST00000587725:exon7:c.A1152C:p.K384N;ENSG00000134444:ENST00000256858:exon7:c.A1152C:p.K384N;	0.00517354840534081	0.036
18	59894920	A	G	18	62227687	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon7:c.A1152G:p.K384K;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1152G:p.K384K;ENSG00000134444:ENST00000587725:exon7:c.A1152G:p.K384K;ENSG00000134444:ENST00000256858:exon7:c.A1152G:p.K384K;	0.00812320380785344	0.152
18	59894920	A	T	18	62227687	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1152T:p.K384N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1152T:p.K384N;ENSG00000134444:ENST00000587725:exon7:c.A1152T:p.K384N;ENSG00000134444:ENST00000256858:exon7:c.A1152T:p.K384N;	0.355024886328501	0.446
18	59894921	A	C	18	62227688	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1153C:p.S385R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1153C:p.S385R;ENSG00000134444:ENST00000587725:exon7:c.A1153C:p.S385R;ENSG00000134444:ENST00000256858:exon7:c.A1153C:p.S385R;	0.938732638289381	0.722
18	59894921	A	G	18	62227688	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1153G:p.S385G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1153G:p.S385G;ENSG00000134444:ENST00000587725:exon7:c.A1153G:p.S385G;ENSG00000134444:ENST00000256858:exon7:c.A1153G:p.S385G;	0.998633784434705	0.928
18	59894921	A	T	18	62227688	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.A1153T:p.S385C;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.A1153T:p.S385C;ENSG00000134444:ENST00000587725:exon7:c.A1153T:p.S385C;ENSG00000134444:ENST00000256858:exon7:c.A1153T:p.S385C;	0.985147318764142	0.844
18	59894922	G	A	18	62227689	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.G1154A:p.S385N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.G1154A:p.S385N;ENSG00000134444:ENST00000587725:exon7:c.G1154A:p.S385N;ENSG00000134444:ENST00000256858:exon7:c.G1154A:p.S385N;	0.99996176668115	0.99
18	59894922	G	C	18	62227689	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.G1154C:p.S385T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.G1154C:p.S385T;ENSG00000134444:ENST00000587725:exon7:c.G1154C:p.S385T;ENSG00000134444:ENST00000256858:exon7:c.G1154C:p.S385T;	0.999996172988062	0.984
18	59894922	G	T	18	62227689	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon7:c.G1154T:p.S385I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon7:c.G1154T:p.S385I;ENSG00000134444:ENST00000587725:exon7:c.G1154T:p.S385I;ENSG00000134444:ENST00000256858:exon7:c.G1154T:p.S385I;	0.999983671110038	0.982
18	59894923	G	A	18	62227690	y	y	splicing	KIAA1468(NM_020854:exon7:c.1154+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1154+1G>A;ENST00000398130:exon7:c.1154+1G>A;ENST00000587725:exon7:c.1154+1G>A)	.	.	0.999990361384395	0.924
18	59894923	G	C	18	62227690	y	y	splicing	KIAA1468(NM_020854:exon7:c.1154+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1154+1G>C;ENST00000398130:exon7:c.1154+1G>C;ENST00000587725:exon7:c.1154+1G>C)	.	.	0.999990361384395	0.924
18	59894923	G	T	18	62227690	y	y	splicing	KIAA1468(NM_020854:exon7:c.1154+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1154+1G>T;ENST00000398130:exon7:c.1154+1G>T;ENST00000587725:exon7:c.1154+1G>T)	.	.	0.999990361384395	0.924
18	59894924	T	A	18	62227691	y	y	splicing	KIAA1468(NM_020854:exon7:c.1154+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1154+2T>A;ENST00000398130:exon7:c.1154+2T>A;ENST00000587725:exon7:c.1154+2T>A)	.	.	0.99994568797423	0.93
18	59894924	T	C	18	62227691	y	y	splicing	KIAA1468(NM_020854:exon7:c.1154+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1154+2T>C;ENST00000398130:exon7:c.1154+2T>C;ENST00000587725:exon7:c.1154+2T>C)	.	.	0.982106279493755	0.698
18	59894924	T	G	18	62227691	y	y	splicing	KIAA1468(NM_020854:exon7:c.1154+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon7:c.1154+2T>G;ENST00000398130:exon7:c.1154+2T>G;ENST00000587725:exon7:c.1154+2T>G)	.	.	0.99994568797423	0.932
18	59894925	T	A	18	62227692	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.68240950739408E-5	0.026
18	59894925	T	C	18	62227692	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.58966148054121E-6	0.0
18	59894925	T	G	18	62227692	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.18491148579141E-5	0.028
18	59894926	A	C	18	62227693	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0695975674700667	0.376
18	59894926	A	G	18	62227693	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.145988942066	0.48
18	59894926	A	T	18	62227693	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.213629983675251	0.448
18	59894927	G	A	18	62227694	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997818101350275	0.696
18	59894927	G	C	18	62227694	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999783813671871	0.824
18	59894927	G	T	18	62227694	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.991100022105292	0.712
18	59894928	T	A	18	62227695	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.5030743717947	0.462
18	59894928	T	C	18	62227695	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.764251904247497	0.57
18	59894928	T	G	18	62227695	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0619041622131634	0.398
18	59894929	A	C	18	62227696	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.01212398005583E-5	0.0
18	59894929	A	G	18	62227696	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.06013177920166E-5	0.0
18	59894929	A	T	18	62227696	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.5150900255661E-5	0.0
18	59894930	C	A	18	62227697	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.07014835428848E-5	0.004
18	59894930	C	G	18	62227697	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.07014835428848E-5	0.004
18	59894930	C	T	18	62227697	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.07014835428848E-5	0.006
18	59895526	C	A	18	62228293	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00183821722749996	0.044
18	59895526	C	G	18	62228293	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.00111741061518E-4	0.034
18	59895526	C	T	18	62228293	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.86428795206654E-5	0.0
18	59895527	T	A	18	62228294	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.224448467762746	0.444
18	59895527	T	C	18	62228294	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0216534436145772	0.08
18	59895527	T	G	18	62228294	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.153742465861209	0.32
18	59895528	C	A	18	62228295	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00331030275150899	0.114
18	59895528	C	G	18	62228295	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0054732171330102	0.04
18	59895528	C	T	18	62228295	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.63009668561431E-4	0.0
18	59895529	T	A	18	62228296	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.20140369587076E-4	0.096
18	59895529	T	C	18	62228296	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.16770094799912E-4	0.04
18	59895529	T	G	18	62228296	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00345402549985265	0.098
18	59895530	T	A	18	62228297	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00969890975107707	0.094
18	59895530	T	C	18	62228297	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00184496092239618	0.026
18	59895530	T	G	18	62228297	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00533308832722404	0.132
18	59895531	T	A	18	62228298	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0746354033555297	0.156
18	59895531	T	C	18	62228298	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.44857521993186E-5	0.0
18	59895531	T	G	18	62228298	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0457446501051008	0.144
18	59895532	C	A	18	62228299	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00533483057013348	0.102
18	59895532	C	G	18	62228299	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00640243830609355	0.132
18	59895532	C	T	18	62228299	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.15995363560868E-5	0.006
18	59895533	T	A	18	62228300	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.235295572720409	0.386
18	59895533	T	C	18	62228300	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0119789294298328	0.078
18	59895533	T	G	18	62228300	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.366441149085161	0.386
18	59895534	A	C	18	62228301	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.2408451340593E-4	0.014
18	59895534	A	G	18	62228301	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.34851861691184E-5	0.028
18	59895534	A	T	18	62228301	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.2659972889456E-5	0.008
18	59895535	C	A	18	62228302	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.980722300191526	0.64
18	59895535	C	G	18	62228302	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999761218802205	0.948
18	59895535	C	T	18	62228302	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00689994382891656	0.06
18	59895536	A	C	18	62228303	y	y	splicing	KIAA1468(NM_020854:exon8:c.1155-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1155-2A>C;ENST00000398130:exon8:c.1155-2A>C;ENST00000587725:exon8:c.1155-2A>C)	.	.	0.999988247793601	0.93
18	59895536	A	G	18	62228303	y	y	splicing	KIAA1468(NM_020854:exon8:c.1155-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1155-2A>G;ENST00000398130:exon8:c.1155-2A>G;ENST00000587725:exon8:c.1155-2A>G)	.	.	0.999988247793601	0.93
18	59895536	A	T	18	62228303	y	y	splicing	KIAA1468(NM_020854:exon8:c.1155-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1155-2A>T;ENST00000398130:exon8:c.1155-2A>T;ENST00000587725:exon8:c.1155-2A>T)	.	.	0.999988247793601	0.93
18	59895537	G	A	18	62228304	y	y	splicing	KIAA1468(NM_020854:exon8:c.1155-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1155-1G>A;ENST00000398130:exon8:c.1155-1G>A;ENST00000587725:exon8:c.1155-1G>A)	.	.	0.999990361384395	0.938
18	59895537	G	C	18	62228304	y	y	splicing	KIAA1468(NM_020854:exon8:c.1155-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1155-1G>C;ENST00000398130:exon8:c.1155-1G>C;ENST00000587725:exon8:c.1155-1G>C)	.	.	0.999990361384395	0.938
18	59895537	G	T	18	62228304	y	y	splicing	KIAA1468(NM_020854:exon8:c.1155-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1155-1G>T;ENST00000398130:exon8:c.1155-1G>T;ENST00000587725:exon8:c.1155-1G>T)	.	.	0.999990361384395	0.938
18	59895538	T	A	18	62228305	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.T1155A:p.S385R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.T1155A:p.S385R;ENSG00000134444:ENST00000587725:exon8:c.T1155A:p.S385R;ENSG00000134444:ENST00000256858:exon8:c.T1155A:p.S385R;	0.0345110075320435	0.334
18	59895538	T	C	18	62228305	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon8:c.T1155C:p.S385S;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.T1155C:p.S385S;ENSG00000134444:ENST00000587725:exon8:c.T1155C:p.S385S;ENSG00000134444:ENST00000256858:exon8:c.T1155C:p.S385S;	0.185071214255803	0.3
18	59895538	T	G	18	62228305	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.T1155G:p.S385R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.T1155G:p.S385R;ENSG00000134444:ENST00000587725:exon8:c.T1155G:p.S385R;ENSG00000134444:ENST00000256858:exon8:c.T1155G:p.S385R;	0.00626511296208291	0.104
18	59895539	G	A	18	62228306	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.G1156A:p.E386K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.G1156A:p.E386K;ENSG00000134444:ENST00000587725:exon8:c.G1156A:p.E386K;ENSG00000134444:ENST00000256858:exon8:c.G1156A:p.E386K;	0.980049620450646	0.816
18	59895539	G	C	18	62228306	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.G1156C:p.E386Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.G1156C:p.E386Q;ENSG00000134444:ENST00000587725:exon8:c.G1156C:p.E386Q;ENSG00000134444:ENST00000256858:exon8:c.G1156C:p.E386Q;	0.0320217363796353	0.24
18	59895539	G	T	18	62228306	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon8:c.G1156T:p.E386X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon8:c.G1156T:p.E386X;ENSG00000134444:ENST00000587725:exon8:c.G1156T:p.E386X;ENSG00000134444:ENST00000256858:exon8:c.G1156T:p.E386X;	0.986475172586073	0.928
18	59895829	T	A	18	62228596	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.T1446A:p.N482K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.T1446A:p.N482K;ENSG00000134444:ENST00000587725:exon8:c.T1446A:p.N482K;ENSG00000134444:ENST00000256858:exon8:c.T1446A:p.N482K;	4.23032401772159E-4	0.28
18	59895829	T	C	18	62228596	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon8:c.T1446C:p.N482N;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.T1446C:p.N482N;ENSG00000134444:ENST00000587725:exon8:c.T1446C:p.N482N;ENSG00000134444:ENST00000256858:exon8:c.T1446C:p.N482N;	1.20963718674299E-4	0.024
18	59895829	T	G	18	62228596	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.T1446G:p.N482K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.T1446G:p.N482K;ENSG00000134444:ENST00000587725:exon8:c.T1446G:p.N482K;ENSG00000134444:ENST00000256858:exon8:c.T1446G:p.N482K;	4.16155047171382E-4	0.188
18	59895830	A	C	18	62228597	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon8:c.A1447C:p.R483R;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.A1447C:p.R483R;ENSG00000134444:ENST00000587725:exon8:c.A1447C:p.R483R;ENSG00000134444:ENST00000256858:exon8:c.A1447C:p.R483R;	0.0590265464385444	0.506
18	59895830	A	G	18	62228597	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.A1447G:p.R483G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.A1447G:p.R483G;ENSG00000134444:ENST00000587725:exon8:c.A1447G:p.R483G;ENSG00000134444:ENST00000256858:exon8:c.A1447G:p.R483G;	0.964282530421721	0.662
18	59895830	A	T	18	62228597	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.A1447T:p.R483W;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.A1447T:p.R483W;ENSG00000134444:ENST00000587725:exon8:c.A1447T:p.R483W;ENSG00000134444:ENST00000256858:exon8:c.A1447T:p.R483W;	0.5292335215148	0.51
18	59895831	G	A	18	62228598	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.G1448A:p.R483K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.G1448A:p.R483K;ENSG00000134444:ENST00000587725:exon8:c.G1448A:p.R483K;ENSG00000134444:ENST00000256858:exon8:c.G1448A:p.R483K;	0.99999211286526	0.994
18	59895831	G	C	18	62228598	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.G1448C:p.R483T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.G1448C:p.R483T;ENSG00000134444:ENST00000587725:exon8:c.G1448C:p.R483T;ENSG00000134444:ENST00000256858:exon8:c.G1448C:p.R483T;	0.999998122414291	1.0
18	59895831	G	T	18	62228598	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon8:c.G1448T:p.R483M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon8:c.G1448T:p.R483M;ENSG00000134444:ENST00000587725:exon8:c.G1448T:p.R483M;ENSG00000134444:ENST00000256858:exon8:c.G1448T:p.R483M;	0.999993057001721	1.0
18	59895832	G	A	18	62228599	y	y	splicing	KIAA1468(NM_020854:exon8:c.1448+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1448+1G>A;ENST00000398130:exon8:c.1448+1G>A;ENST00000587725:exon8:c.1448+1G>A)	.	.	0.999990361384395	0.938
18	59895832	G	C	18	62228599	y	y	splicing	KIAA1468(NM_020854:exon8:c.1448+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1448+1G>C;ENST00000398130:exon8:c.1448+1G>C;ENST00000587725:exon8:c.1448+1G>C)	.	.	0.999990361384395	0.938
18	59895832	G	T	18	62228599	y	y	splicing	KIAA1468(NM_020854:exon8:c.1448+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1448+1G>T;ENST00000398130:exon8:c.1448+1G>T;ENST00000587725:exon8:c.1448+1G>T)	.	.	0.999990361384395	0.938
18	59895833	T	A	18	62228600	y	y	splicing	KIAA1468(NM_020854:exon8:c.1448+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1448+2T>A;ENST00000398130:exon8:c.1448+2T>A;ENST00000587725:exon8:c.1448+2T>A)	.	.	0.999988247793601	0.93
18	59895833	T	C	18	62228600	y	y	splicing	KIAA1468(NM_020854:exon8:c.1448+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1448+2T>C;ENST00000398130:exon8:c.1448+2T>C;ENST00000587725:exon8:c.1448+2T>C)	.	.	0.996388929962285	0.702
18	59895833	T	G	18	62228600	y	y	splicing	KIAA1468(NM_020854:exon8:c.1448+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon8:c.1448+2T>G;ENST00000398130:exon8:c.1448+2T>G;ENST00000587725:exon8:c.1448+2T>G)	.	.	0.999988247793601	0.93
18	59895834	T	A	18	62228601	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.73769663539178E-4	0.074
18	59895834	T	C	18	62228601	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.23766487003167E-4	0.052
18	59895834	T	G	18	62228601	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.90613938074708E-4	0.058
18	59895835	A	C	18	62228602	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.806625404296807	0.548
18	59895835	A	G	18	62228602	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.464378143635456	0.5
18	59895835	A	T	18	62228602	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.820552270211531	0.63
18	59895836	G	A	18	62228603	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999944882761828	0.942
18	59895836	G	C	18	62228603	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999969363361773	0.992
18	59895836	G	T	18	62228603	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999905683236941	0.914
18	59895837	T	A	18	62228604	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996948588795812	0.892
18	59895837	T	C	18	62228604	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993584731602388	0.89
18	59895837	T	G	18	62228604	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997341645623588	0.894
18	59895838	A	C	18	62228605	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.37687621806476E-5	0.002
18	59895838	A	G	18	62228605	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.43387965814529E-5	0.014
18	59895838	A	T	18	62228605	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.53746664959622E-4	0.09
18	59895839	T	A	18	62228606	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.83846092469087	0.788
18	59895839	T	C	18	62228606	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.687944076485591	0.582
18	59895839	T	G	18	62228606	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.726702597113684	0.708
18	59898415	A	C	18	62231182	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.53640169739269E-5	0.002
18	59898415	A	G	18	62231182	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.19695919510104E-5	0.014
18	59898415	A	T	18	62231182	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.64987181452432E-5	0.002
18	59898416	T	A	18	62231183	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.807040590700946	0.542
18	59898416	T	C	18	62231183	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.168530398554426	0.186
18	59898416	T	G	18	62231183	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999811241215335	0.922
18	59898417	T	A	18	62231184	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.436605942044151	0.524
18	59898417	T	C	18	62231184	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.07122373463794E-4	0.038
18	59898417	T	G	18	62231184	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.367605189652802	0.484
18	59898418	T	A	18	62231185	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.281491346439289	0.418
18	59898418	T	C	18	62231185	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.31657743862969E-4	0.042
18	59898418	T	G	18	62231185	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.318732008197919	0.416
18	59898419	T	A	18	62231186	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00329169421347726	0.046
18	59898419	T	C	18	62231186	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.62549991440487E-5	0.0
18	59898419	T	G	18	62231186	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.11463017456794E-4	0.058
18	59898420	C	A	18	62231187	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.08919816291664E-4	0.024
18	59898420	C	G	18	62231187	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.97861997958905E-5	0.03
18	59898420	C	T	18	62231187	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.94752771412902E-5	0.0
18	59898421	T	A	18	62231188	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0360113136018578	0.384
18	59898421	T	C	18	62231188	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.48671993922216E-4	0.002
18	59898421	T	G	18	62231188	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.223183213737199	0.494
18	59898422	T	A	18	62231189	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.376809315430627	0.428
18	59898422	T	C	18	62231189	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0158858823492623	0.138
18	59898422	T	G	18	62231189	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.646444723081343	0.494
18	59898423	C	A	18	62231190	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.14263941458039E-5	0.0
18	59898423	C	G	18	62231190	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.99519076284194E-5	0.002
18	59898423	C	T	18	62231190	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.94913414513448E-5	0.002
18	59898424	T	A	18	62231191	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0118427250505465	0.33
18	59898424	T	C	18	62231191	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.40436176735292E-4	0.018
18	59898424	T	G	18	62231191	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.968738107974225	0.64
18	59898425	A	C	18	62231192	y	y	splicing	KIAA1468(NM_020854:exon9:c.1449-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1449-2A>C;ENST00000398130:exon9:c.1449-2A>C;ENST00000587725:exon9:c.1449-2A>C)	.	.	0.999988247793601	0.93
18	59898425	A	G	18	62231192	y	y	splicing	KIAA1468(NM_020854:exon9:c.1449-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1449-2A>G;ENST00000398130:exon9:c.1449-2A>G;ENST00000587725:exon9:c.1449-2A>G)	.	.	0.999988247793601	0.93
18	59898425	A	T	18	62231192	y	y	splicing	KIAA1468(NM_020854:exon9:c.1449-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1449-2A>T;ENST00000398130:exon9:c.1449-2A>T;ENST00000587725:exon9:c.1449-2A>T)	.	.	0.999988247793601	0.93
18	59898426	G	A	18	62231193	y	y	splicing	KIAA1468(NM_020854:exon9:c.1449-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1449-1G>A;ENST00000398130:exon9:c.1449-1G>A;ENST00000587725:exon9:c.1449-1G>A)	.	.	0.999990361384395	0.938
18	59898426	G	C	18	62231193	y	y	splicing	KIAA1468(NM_020854:exon9:c.1449-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1449-1G>C;ENST00000398130:exon9:c.1449-1G>C;ENST00000587725:exon9:c.1449-1G>C)	.	.	0.999990361384395	0.938
18	59898426	G	T	18	62231193	y	y	splicing	KIAA1468(NM_020854:exon9:c.1449-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1449-1G>T;ENST00000398130:exon9:c.1449-1G>T;ENST00000587725:exon9:c.1449-1G>T)	.	.	0.999990361384395	0.938
18	59898427	G	A	18	62231194	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon9:c.G1449A:p.R483R;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.G1449A:p.R483R;ENSG00000134444:ENST00000587725:exon9:c.G1449A:p.R483R;ENSG00000134444:ENST00000256858:exon9:c.G1449A:p.R483R;	0.14158888339612	0.29
18	59898427	G	C	18	62231194	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.G1449C:p.R483S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.G1449C:p.R483S;ENSG00000134444:ENST00000587725:exon9:c.G1449C:p.R483S;ENSG00000134444:ENST00000256858:exon9:c.G1449C:p.R483S;	0.991361733171394	0.92
18	59898427	G	T	18	62231194	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.G1449T:p.R483S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.G1449T:p.R483S;ENSG00000134444:ENST00000587725:exon9:c.G1449T:p.R483S;ENSG00000134444:ENST00000256858:exon9:c.G1449T:p.R483S;	0.998885168632109	0.946
18	59898428	A	C	18	62231195	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.A1450C:p.K484Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.A1450C:p.K484Q;ENSG00000134444:ENST00000587725:exon9:c.A1450C:p.K484Q;ENSG00000134444:ENST00000256858:exon9:c.A1450C:p.K484Q;	0.0727588507115729	0.142
18	59898428	A	G	18	62231195	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.A1450G:p.K484E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.A1450G:p.K484E;ENSG00000134444:ENST00000587725:exon9:c.A1450G:p.K484E;ENSG00000134444:ENST00000256858:exon9:c.A1450G:p.K484E;	0.0530169266417802	0.222
18	59898428	A	T	18	62231195	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon9:c.A1450T:p.K484X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon9:c.A1450T:p.K484X;ENSG00000134444:ENST00000587725:exon9:c.A1450T:p.K484X;ENSG00000134444:ENST00000256858:exon9:c.A1450T:p.K484X;	0.12955972885838	0.444
18	59898500	G	A	18	62231267	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.G1522A:p.E508K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.G1522A:p.E508K;ENSG00000134444:ENST00000587725:exon9:c.G1522A:p.E508K;ENSG00000134444:ENST00000256858:exon9:c.G1522A:p.E508K;	0.930393484225735	0.8
18	59898500	G	C	18	62231267	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.G1522C:p.E508Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.G1522C:p.E508Q;ENSG00000134444:ENST00000587725:exon9:c.G1522C:p.E508Q;ENSG00000134444:ENST00000256858:exon9:c.G1522C:p.E508Q;	0.946271333195606	0.768
18	59898500	G	T	18	62231267	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon9:c.G1522T:p.E508X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon9:c.G1522T:p.E508X;ENSG00000134444:ENST00000587725:exon9:c.G1522T:p.E508X;ENSG00000134444:ENST00000256858:exon9:c.G1522T:p.E508X;	0.976120775773534	0.86
18	59898501	A	C	18	62231268	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.A1523C:p.E508A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.A1523C:p.E508A;ENSG00000134444:ENST00000587725:exon9:c.A1523C:p.E508A;ENSG00000134444:ENST00000256858:exon9:c.A1523C:p.E508A;	0.998702307301433	0.978
18	59898501	A	G	18	62231268	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.A1523G:p.E508G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.A1523G:p.E508G;ENSG00000134444:ENST00000587725:exon9:c.A1523G:p.E508G;ENSG00000134444:ENST00000256858:exon9:c.A1523G:p.E508G;	0.999823283276145	0.99
18	59898501	A	T	18	62231268	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.A1523T:p.E508V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.A1523T:p.E508V;ENSG00000134444:ENST00000587725:exon9:c.A1523T:p.E508V;ENSG00000134444:ENST00000256858:exon9:c.A1523T:p.E508V;	0.999898634093767	1.0
18	59898502	G	A	18	62231269	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon9:c.G1524A:p.E508E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.G1524A:p.E508E;ENSG00000134444:ENST00000587725:exon9:c.G1524A:p.E508E;ENSG00000134444:ENST00000256858:exon9:c.G1524A:p.E508E;	0.998185965144946	0.964
18	59898502	G	C	18	62231269	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.G1524C:p.E508D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.G1524C:p.E508D;ENSG00000134444:ENST00000587725:exon9:c.G1524C:p.E508D;ENSG00000134444:ENST00000256858:exon9:c.G1524C:p.E508D;	0.9999981677847	1.0
18	59898502	G	T	18	62231269	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon9:c.G1524T:p.E508D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon9:c.G1524T:p.E508D;ENSG00000134444:ENST00000587725:exon9:c.G1524T:p.E508D;ENSG00000134444:ENST00000256858:exon9:c.G1524T:p.E508D;	0.999985786039744	0.984
18	59898503	G	A	18	62231270	y	y	splicing	KIAA1468(NM_020854:exon9:c.1524+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1524+1G>A;ENST00000398130:exon9:c.1524+1G>A;ENST00000587725:exon9:c.1524+1G>A)	.	.	0.999985532734767	0.934
18	59898503	G	C	18	62231270	y	y	splicing	KIAA1468(NM_020854:exon9:c.1524+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1524+1G>C;ENST00000398130:exon9:c.1524+1G>C;ENST00000587725:exon9:c.1524+1G>C)	.	.	0.999985532734767	0.932
18	59898503	G	T	18	62231270	y	y	splicing	KIAA1468(NM_020854:exon9:c.1524+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1524+1G>T;ENST00000398130:exon9:c.1524+1G>T;ENST00000587725:exon9:c.1524+1G>T)	.	.	0.999985532734767	0.934
18	59898504	T	A	18	62231271	y	y	splicing	KIAA1468(NM_020854:exon9:c.1524+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1524+2T>A;ENST00000398130:exon9:c.1524+2T>A;ENST00000587725:exon9:c.1524+2T>A)	.	.	0.999988247793601	0.876
18	59898504	T	C	18	62231271	y	y	splicing	KIAA1468(NM_020854:exon9:c.1524+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1524+2T>C;ENST00000398130:exon9:c.1524+2T>C;ENST00000587725:exon9:c.1524+2T>C)	.	.	0.988163425542712	0.624
18	59898504	T	G	18	62231271	y	y	splicing	KIAA1468(NM_020854:exon9:c.1524+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon9:c.1524+2T>G;ENST00000398130:exon9:c.1524+2T>G;ENST00000587725:exon9:c.1524+2T>G)	.	.	0.999988247793601	0.926
18	59898505	A	C	18	62231272	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999684525533165	0.93
18	59898505	A	G	18	62231272	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.915373307469658	0.558
18	59898505	A	T	18	62231272	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999143251845968	0.88
18	59898506	A	C	18	62231273	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.421628703906949	0.478
18	59898506	A	G	18	62231273	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.787595964694929	0.63
18	59898506	A	T	18	62231273	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.262636443456557	0.49
18	59898507	A	C	18	62231274	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.47379286850094E-4	0.022
18	59898507	A	G	18	62231274	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.85952726337627E-4	0.098
18	59898507	A	T	18	62231274	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.33834747833175E-4	0.006
18	59898508	T	A	18	62231275	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.255252090106694	0.422
18	59898508	T	C	18	62231275	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.252115606939523	0.466
18	59898508	T	G	18	62231275	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00366865524275243	0.336
18	59898509	T	A	18	62231276	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.20792789225116E-5	0.0
18	59898509	T	C	18	62231276	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.20792789225116E-5	0.0
18	59898509	T	G	18	62231276	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.20792789225116E-5	0.0
18	59898510	A	C	18	62231277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.54056558221737E-5	0.0
18	59898510	A	G	18	62231277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.25626363552492E-5	0.004
18	59898510	A	T	18	62231277	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.74852727844878E-5	0.0
18	59899553	T	A	18	62232320	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.67289353559865E-4	0.07
18	59899553	T	C	18	62232320	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.3977072597324E-5	0.002
18	59899553	T	G	18	62232320	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.75592686417064E-4	0.098
18	59899554	T	A	18	62232321	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999752896673733	0.89
18	59899554	T	C	18	62232321	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0095863499482784	0.146
18	59899554	T	G	18	62232321	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.251567559157108	0.41
18	59899555	G	A	18	62232322	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997827295541605	0.942
18	59899555	G	C	18	62232322	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.87979841605406E-4	0.004
18	59899555	G	T	18	62232322	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.16498781150194E-4	0.004
18	59899556	G	A	18	62232323	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.61971573438203E-5	0.0
18	59899556	G	C	18	62232323	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.09287720652142E-5	0.0
18	59899556	G	T	18	62232323	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.80775797286118E-5	0.0
18	59899557	T	A	18	62232324	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.124969948678782	0.266
18	59899557	T	C	18	62232324	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.31811372144765E-5	0.0
18	59899557	T	G	18	62232324	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00233451539373812	0.222
18	59899558	T	A	18	62232325	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.059672833723689	0.212
18	59899558	T	C	18	62232325	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.33146594528929E-4	0.0
18	59899558	T	G	18	62232325	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00768433893974927	0.172
18	59899559	T	A	18	62232326	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.597692040599138	0.59
18	59899559	T	C	18	62232326	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.4059337966448E-4	0.008
18	59899559	T	G	18	62232326	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.769125882822364	0.578
18	59899560	T	A	18	62232327	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.897823558945374	0.67
18	59899560	T	C	18	62232327	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0502168851589066	0.166
18	59899560	T	G	18	62232327	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.708889361420229	0.576
18	59899561	C	A	18	62232328	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.35107955432761E-4	0.01
18	59899561	C	G	18	62232328	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.49681877602541E-4	0.02
18	59899561	C	T	18	62232328	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.45006165840314E-4	0.01
18	59899562	T	A	18	62232329	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0236544281107129	0.262
18	59899562	T	C	18	62232329	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.84735306884841E-5	0.016
18	59899562	T	G	18	62232329	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.335836519621727	0.582
18	59899563	A	C	18	62232330	y	y	splicing	KIAA1468(NM_020854:exon10:c.1525-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1525-2A>C;ENST00000398130:exon10:c.1525-2A>C;ENST00000587725:exon10:c.1525-2A>C)	.	.	0.999988247793601	0.932
18	59899563	A	G	18	62232330	y	y	splicing	KIAA1468(NM_020854:exon10:c.1525-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1525-2A>G;ENST00000398130:exon10:c.1525-2A>G;ENST00000587725:exon10:c.1525-2A>G)	.	.	0.999988247793601	0.932
18	59899563	A	T	18	62232330	y	y	splicing	KIAA1468(NM_020854:exon10:c.1525-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1525-2A>T;ENST00000398130:exon10:c.1525-2A>T;ENST00000587725:exon10:c.1525-2A>T)	.	.	0.999988247793601	0.932
18	59899564	G	A	18	62232331	y	y	splicing	KIAA1468(NM_020854:exon10:c.1525-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1525-1G>A;ENST00000398130:exon10:c.1525-1G>A;ENST00000587725:exon10:c.1525-1G>A)	.	.	0.999990361384395	0.938
18	59899564	G	C	18	62232331	y	y	splicing	KIAA1468(NM_020854:exon10:c.1525-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1525-1G>C;ENST00000398130:exon10:c.1525-1G>C;ENST00000587725:exon10:c.1525-1G>C)	.	.	0.999990361384395	0.938
18	59899564	G	T	18	62232331	y	y	splicing	KIAA1468(NM_020854:exon10:c.1525-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1525-1G>T;ENST00000398130:exon10:c.1525-1G>T;ENST00000587725:exon10:c.1525-1G>T)	.	.	0.999990361384395	0.938
18	59899565	G	A	18	62232332	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.G1525A:p.V509M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.G1525A:p.V509M;ENSG00000134444:ENST00000587725:exon10:c.G1525A:p.V509M;ENSG00000134444:ENST00000256858:exon10:c.G1525A:p.V509M;	0.997659215221657	0.92
18	59899565	G	C	18	62232332	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.G1525C:p.V509L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.G1525C:p.V509L;ENSG00000134444:ENST00000587725:exon10:c.G1525C:p.V509L;ENSG00000134444:ENST00000256858:exon10:c.G1525C:p.V509L;	0.999731908290587	0.92
18	59899565	G	T	18	62232332	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.G1525T:p.V509L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.G1525T:p.V509L;ENSG00000134444:ENST00000587725:exon10:c.G1525T:p.V509L;ENSG00000134444:ENST00000256858:exon10:c.G1525T:p.V509L;	0.999870737552847	0.99
18	59899566	T	A	18	62232333	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.T1526A:p.V509E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.T1526A:p.V509E;ENSG00000134444:ENST00000587725:exon10:c.T1526A:p.V509E;ENSG00000134444:ENST00000256858:exon10:c.T1526A:p.V509E;	0.3503894604339	0.614
18	59899566	T	C	18	62232333	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.T1526C:p.V509A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.T1526C:p.V509A;ENSG00000134444:ENST00000587725:exon10:c.T1526C:p.V509A;ENSG00000134444:ENST00000256858:exon10:c.T1526C:p.V509A;	0.39860211745434	0.626
18	59899566	T	G	18	62232333	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.T1526G:p.V509G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.T1526G:p.V509G;ENSG00000134444:ENST00000587725:exon10:c.T1526G:p.V509G;ENSG00000134444:ENST00000256858:exon10:c.T1526G:p.V509G;	0.455589530471052	0.616
18	59899658	G	A	18	62232425	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.G1618A:p.E540K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.G1618A:p.E540K;ENSG00000134444:ENST00000587725:exon10:c.G1618A:p.E540K;ENSG00000134444:ENST00000256858:exon10:c.G1618A:p.E540K;	0.957909675724262	0.808
18	59899658	G	C	18	62232425	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.G1618C:p.E540Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.G1618C:p.E540Q;ENSG00000134444:ENST00000587725:exon10:c.G1618C:p.E540Q;ENSG00000134444:ENST00000256858:exon10:c.G1618C:p.E540Q;	0.96016315069113	0.79
18	59899658	G	T	18	62232425	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon10:c.G1618T:p.E540X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon10:c.G1618T:p.E540X;ENSG00000134444:ENST00000587725:exon10:c.G1618T:p.E540X;ENSG00000134444:ENST00000256858:exon10:c.G1618T:p.E540X;	0.990390966944262	0.892
18	59899659	A	C	18	62232426	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.A1619C:p.E540A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.A1619C:p.E540A;ENSG00000134444:ENST00000587725:exon10:c.A1619C:p.E540A;ENSG00000134444:ENST00000256858:exon10:c.A1619C:p.E540A;	0.989459379874806	0.902
18	59899659	A	G	18	62232426	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.A1619G:p.E540G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.A1619G:p.E540G;ENSG00000134444:ENST00000587725:exon10:c.A1619G:p.E540G;ENSG00000134444:ENST00000256858:exon10:c.A1619G:p.E540G;	0.999012952606334	0.972
18	59899659	A	T	18	62232426	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.A1619T:p.E540V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.A1619T:p.E540V;ENSG00000134444:ENST00000587725:exon10:c.A1619T:p.E540V;ENSG00000134444:ENST00000256858:exon10:c.A1619T:p.E540V;	0.99696489261012	0.936
18	59899660	G	A	18	62232427	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon10:c.G1620A:p.E540E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.G1620A:p.E540E;ENSG00000134444:ENST00000587725:exon10:c.G1620A:p.E540E;ENSG00000134444:ENST00000256858:exon10:c.G1620A:p.E540E;	0.999484663431561	0.882
18	59899660	G	C	18	62232427	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.G1620C:p.E540D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.G1620C:p.E540D;ENSG00000134444:ENST00000587725:exon10:c.G1620C:p.E540D;ENSG00000134444:ENST00000256858:exon10:c.G1620C:p.E540D;	0.999966464108576	0.934
18	59899660	G	T	18	62232427	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon10:c.G1620T:p.E540D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon10:c.G1620T:p.E540D;ENSG00000134444:ENST00000587725:exon10:c.G1620T:p.E540D;ENSG00000134444:ENST00000256858:exon10:c.G1620T:p.E540D;	0.999987936048158	0.988
18	59899661	G	A	18	62232428	y	y	splicing	KIAA1468(NM_020854:exon10:c.1620+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1620+1G>A;ENST00000398130:exon10:c.1620+1G>A;ENST00000587725:exon10:c.1620+1G>A)	.	.	0.999990361384395	0.938
18	59899661	G	C	18	62232428	y	y	splicing	KIAA1468(NM_020854:exon10:c.1620+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1620+1G>C;ENST00000398130:exon10:c.1620+1G>C;ENST00000587725:exon10:c.1620+1G>C)	.	.	0.999990361384395	0.938
18	59899661	G	T	18	62232428	y	y	splicing	KIAA1468(NM_020854:exon10:c.1620+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1620+1G>T;ENST00000398130:exon10:c.1620+1G>T;ENST00000587725:exon10:c.1620+1G>T)	.	.	0.999990361384395	0.938
18	59899662	T	A	18	62232429	y	y	splicing	KIAA1468(NM_020854:exon10:c.1620+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1620+2T>A;ENST00000398130:exon10:c.1620+2T>A;ENST00000587725:exon10:c.1620+2T>A)	.	.	0.999988247793601	0.93
18	59899662	T	C	18	62232429	y	y	splicing	KIAA1468(NM_020854:exon10:c.1620+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1620+2T>C;ENST00000398130:exon10:c.1620+2T>C;ENST00000587725:exon10:c.1620+2T>C)	.	.	0.98918007292081	0.682
18	59899662	T	G	18	62232429	y	y	splicing	KIAA1468(NM_020854:exon10:c.1620+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon10:c.1620+2T>G;ENST00000398130:exon10:c.1620+2T>G;ENST00000587725:exon10:c.1620+2T>G)	.	.	0.999988247793601	0.93
18	59899663	A	C	18	62232430	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.927143493457175	0.58
18	59899663	A	G	18	62232430	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00693960251349119	0.124
18	59899663	A	T	18	62232430	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.93628138465948	0.584
18	59899664	A	C	18	62232431	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.911021394463157	0.662
18	59899664	A	G	18	62232431	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.920154920093748	0.608
18	59899664	A	T	18	62232431	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.904875990268464	0.692
18	59899665	G	A	18	62232432	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.862799165322102	0.54
18	59899665	G	C	18	62232432	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.724072926308834	0.474
18	59899665	G	T	18	62232432	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.859087368174649	0.45
18	59899666	A	C	18	62232433	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.01685360186217E-5	0.01
18	59899666	A	G	18	62232433	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.27987817808299E-5	0.002
18	59899666	A	T	18	62232433	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.09555574239056E-5	0.0
18	59899667	C	A	18	62232434	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.13963468799409E-4	0.006
18	59899667	C	G	18	62232434	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.23934585836974E-4	0.014
18	59899667	C	T	18	62232434	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.23934585836974E-4	0.012
18	59899668	A	C	18	62232435	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.85629413592391E-5	0.0
18	59899668	A	G	18	62232435	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.9469183429777E-5	0.0
18	59899668	A	T	18	62232435	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.9469183429777E-5	0.0
18	59911985	G	A	18	62244752	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.91856563407E-5	0.004
18	59911985	G	C	18	62244752	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.60620679510434E-6	0.02
18	59911985	G	T	18	62244752	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.21768527657417E-5	0.018
18	59911986	T	A	18	62244753	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.284123418784119	0.434
18	59911986	T	C	18	62244753	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.123503162106329	0.36
18	59911986	T	G	18	62244753	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.453881897739626	0.482
18	59911987	A	C	18	62244754	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.05061845556496E-5	0.0
18	59911987	A	G	18	62244754	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.91623171341351E-5	0.0
18	59911987	A	T	18	62244754	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.08379941643639E-5	0.002
18	59911988	T	A	18	62244755	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997934637826451	0.926
18	59911988	T	C	18	62244755	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.723099694875241	0.432
18	59911988	T	G	18	62244755	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999935286443098	0.972
18	59911989	T	A	18	62244756	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0367472009621799	0.228
18	59911989	T	C	18	62244756	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.52299292752132E-4	0.004
18	59911989	T	G	18	62244756	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00642701941350171	0.226
18	59911990	T	A	18	62244757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.783381502722567	0.732
18	59911990	T	C	18	62244757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00180477119523909	0.108
18	59911990	T	G	18	62244757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.864257187212246	0.63
18	59911991	C	A	18	62244758	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0422603034321625	0.35
18	59911991	C	G	18	62244758	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0221042307425921	0.354
18	59911991	C	T	18	62244758	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.14375628856257E-4	0.044
18	59911992	T	A	18	62244759	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.973620464945017	0.85
18	59911992	T	C	18	62244759	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.161671920470136	0.212
18	59911992	T	G	18	62244759	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998334519190559	0.876
18	59911993	T	A	18	62244760	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.75361285988251E-4	0.008
18	59911993	T	C	18	62244760	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.77893473641393E-5	0.002
18	59911993	T	G	18	62244760	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00116744857269904	0.106
18	59911994	T	A	18	62244761	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.536211422215878	0.332
18	59911994	T	C	18	62244761	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.51313179249617E-4	0.0
18	59911994	T	G	18	62244761	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997470741434925	0.814
18	59911995	A	C	18	62244762	y	y	splicing	KIAA1468(NM_020854:exon11:c.1621-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1621-2A>C;ENST00000398130:exon11:c.1621-2A>C;ENST00000587725:exon11:c.1621-2A>C)	.	.	0.999988247793601	0.93
18	59911995	A	G	18	62244762	y	y	splicing	KIAA1468(NM_020854:exon11:c.1621-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1621-2A>G;ENST00000398130:exon11:c.1621-2A>G;ENST00000587725:exon11:c.1621-2A>G)	.	.	0.999988247793601	0.93
18	59911995	A	T	18	62244762	y	y	splicing	KIAA1468(NM_020854:exon11:c.1621-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1621-2A>T;ENST00000398130:exon11:c.1621-2A>T;ENST00000587725:exon11:c.1621-2A>T)	.	.	0.999988247793601	0.93
18	59911996	G	A	18	62244763	y	y	splicing	KIAA1468(NM_020854:exon11:c.1621-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1621-1G>A;ENST00000398130:exon11:c.1621-1G>A;ENST00000587725:exon11:c.1621-1G>A)	.	.	0.999990361384395	0.938
18	59911996	G	C	18	62244763	y	y	splicing	KIAA1468(NM_020854:exon11:c.1621-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1621-1G>C;ENST00000398130:exon11:c.1621-1G>C;ENST00000587725:exon11:c.1621-1G>C)	.	.	0.999990361384395	0.938
18	59911996	G	T	18	62244763	y	y	splicing	KIAA1468(NM_020854:exon11:c.1621-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1621-1G>T;ENST00000398130:exon11:c.1621-1G>T;ENST00000587725:exon11:c.1621-1G>T)	.	.	0.999990361384395	0.938
18	59911997	G	A	18	62244764	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.G1621A:p.E541K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.G1621A:p.E541K;ENSG00000134444:ENST00000587725:exon11:c.G1621A:p.E541K;ENSG00000134444:ENST00000256858:exon11:c.G1621A:p.E541K;	0.999650794380104	0.91
18	59911997	G	C	18	62244764	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.G1621C:p.E541Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.G1621C:p.E541Q;ENSG00000134444:ENST00000587725:exon11:c.G1621C:p.E541Q;ENSG00000134444:ENST00000256858:exon11:c.G1621C:p.E541Q;	0.999922206952686	0.976
18	59911997	G	T	18	62244764	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon11:c.G1621T:p.E541X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon11:c.G1621T:p.E541X;ENSG00000134444:ENST00000587725:exon11:c.G1621T:p.E541X;ENSG00000134444:ENST00000256858:exon11:c.G1621T:p.E541X;	0.999961461746532	0.988
18	59911998	A	C	18	62244765	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.A1622C:p.E541A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1622C:p.E541A;ENSG00000134444:ENST00000587725:exon11:c.A1622C:p.E541A;ENSG00000134444:ENST00000256858:exon11:c.A1622C:p.E541A;	0.934211868848084	0.858
18	59911998	A	G	18	62244765	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.A1622G:p.E541G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1622G:p.E541G;ENSG00000134444:ENST00000587725:exon11:c.A1622G:p.E541G;ENSG00000134444:ENST00000256858:exon11:c.A1622G:p.E541G;	0.890391660596175	0.696
18	59911998	A	T	18	62244765	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.A1622T:p.E541V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1622T:p.E541V;ENSG00000134444:ENST00000587725:exon11:c.A1622T:p.E541V;ENSG00000134444:ENST00000256858:exon11:c.A1622T:p.E541V;	0.907234959308561	0.786
18	59912107	A	C	18	62244874	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.A1731C:p.Q577H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1731C:p.Q577H;ENSG00000134444:ENST00000587725:exon11:c.A1731C:p.Q577H;ENSG00000134444:ENST00000256858:exon11:c.A1731C:p.Q577H;	8.18054522051568E-5	0.1
18	59912107	A	G	18	62244874	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon11:c.A1731G:p.Q577Q;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1731G:p.Q577Q;ENSG00000134444:ENST00000587725:exon11:c.A1731G:p.Q577Q;ENSG00000134444:ENST00000256858:exon11:c.A1731G:p.Q577Q;	6.29933244540727E-4	0.016
18	59912107	A	T	18	62244874	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.A1731T:p.Q577H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1731T:p.Q577H;ENSG00000134444:ENST00000587725:exon11:c.A1731T:p.Q577H;ENSG00000134444:ENST00000256858:exon11:c.A1731T:p.Q577H;	0.0508496560049789	0.54
18	59912108	A	C	18	62244875	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon11:c.A1732C:p.R578R;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1732C:p.R578R;ENSG00000134444:ENST00000587725:exon11:c.A1732C:p.R578R;ENSG00000134444:ENST00000256858:exon11:c.A1732C:p.R578R;	0.744284636569956	0.754
18	59912108	A	G	18	62244875	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.A1732G:p.R578G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1732G:p.R578G;ENSG00000134444:ENST00000587725:exon11:c.A1732G:p.R578G;ENSG00000134444:ENST00000256858:exon11:c.A1732G:p.R578G;	0.999854907312585	0.998
18	59912108	A	T	18	62244875	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.A1732T:p.R578W;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.A1732T:p.R578W;ENSG00000134444:ENST00000587725:exon11:c.A1732T:p.R578W;ENSG00000134444:ENST00000256858:exon11:c.A1732T:p.R578W;	0.999639683356779	0.996
18	59912109	G	A	18	62244876	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.G1733A:p.R578K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.G1733A:p.R578K;ENSG00000134444:ENST00000587725:exon11:c.G1733A:p.R578K;ENSG00000134444:ENST00000256858:exon11:c.G1733A:p.R578K;	0.999989788026261	0.998
18	59912109	G	C	18	62244876	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.G1733C:p.R578T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.G1733C:p.R578T;ENSG00000134444:ENST00000587725:exon11:c.G1733C:p.R578T;ENSG00000134444:ENST00000256858:exon11:c.G1733C:p.R578T;	0.99999721398396	1.0
18	59912109	G	T	18	62244876	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon11:c.G1733T:p.R578M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon11:c.G1733T:p.R578M;ENSG00000134444:ENST00000587725:exon11:c.G1733T:p.R578M;ENSG00000134444:ENST00000256858:exon11:c.G1733T:p.R578M;	0.999990248918321	1.0
18	59912110	G	A	18	62244877	y	y	splicing	KIAA1468(NM_020854:exon11:c.1733+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1733+1G>A;ENST00000398130:exon11:c.1733+1G>A;ENST00000587725:exon11:c.1733+1G>A)	.	.	0.999990361384395	0.938
18	59912110	G	C	18	62244877	y	y	splicing	KIAA1468(NM_020854:exon11:c.1733+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1733+1G>C;ENST00000398130:exon11:c.1733+1G>C;ENST00000587725:exon11:c.1733+1G>C)	.	.	0.999990361384395	0.936
18	59912110	G	T	18	62244877	y	y	splicing	KIAA1468(NM_020854:exon11:c.1733+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1733+1G>T;ENST00000398130:exon11:c.1733+1G>T;ENST00000587725:exon11:c.1733+1G>T)	.	.	0.999990361384395	0.936
18	59912111	T	A	18	62244878	y	y	splicing	KIAA1468(NM_020854:exon11:c.1733+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1733+2T>A;ENST00000398130:exon11:c.1733+2T>A;ENST00000587725:exon11:c.1733+2T>A)	.	.	0.999988247793601	0.928
18	59912111	T	C	18	62244878	y	y	splicing	KIAA1468(NM_020854:exon11:c.1733+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1733+2T>C;ENST00000398130:exon11:c.1733+2T>C;ENST00000587725:exon11:c.1733+2T>C)	.	.	0.999929727175276	0.862
18	59912111	T	G	18	62244878	y	y	splicing	KIAA1468(NM_020854:exon11:c.1733+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon11:c.1733+2T>G;ENST00000398130:exon11:c.1733+2T>G;ENST00000587725:exon11:c.1733+2T>G)	.	.	0.999988247793601	0.918
18	59912112	G	A	18	62244879	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.1723701321287E-4	0.042
18	59912112	G	C	18	62244879	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.010762966170913	0.196
18	59912112	G	T	18	62244879	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00127597576588797	0.138
18	59912113	G	A	18	62244880	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.55232846632334E-4	0.036
18	59912113	G	C	18	62244880	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.08948816728211E-5	0.006
18	59912113	G	T	18	62244880	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.29496959681311E-4	0.024
18	59912114	G	A	18	62244881	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998218528375002	0.926
18	59912114	G	C	18	62244881	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999626551560142	0.964
18	59912114	G	T	18	62244881	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998859219706539	0.862
18	59912115	T	A	18	62244882	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.932881191978631	0.616
18	59912115	T	C	18	62244882	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.726013988563859	0.39
18	59912115	T	G	18	62244882	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.851487291385521	0.602
18	59912116	A	C	18	62244883	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.61565717590865E-5	0.01
18	59912116	A	G	18	62244883	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.34507490888999E-5	0.012
18	59912116	A	T	18	62244883	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.02579473137193E-5	0.054
18	59912117	T	A	18	62244884	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.50788383517279E-5	0.0
18	59912117	T	C	18	62244884	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08240466956362E-5	0.0
18	59912117	T	G	18	62244884	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.62632596322256E-5	0.002
18	59919885	A	C	18	62252652	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.52230471580623E-5	0.0
18	59919885	A	G	18	62252652	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.89782438308181E-5	0.006
18	59919885	A	T	18	62252652	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.52230471580623E-5	0.0
18	59919886	T	A	18	62252653	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.106987908224253	0.33
18	59919886	T	C	18	62252653	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.83920267709762E-4	0.02
18	59919886	T	G	18	62252653	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999304988286521	0.924
18	59919887	T	A	18	62252654	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0638485557764853	0.364
18	59919887	T	C	18	62252654	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.75463571461809E-4	0.006
18	59919887	T	G	18	62252654	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0143341461865384	0.262
18	59919888	A	C	18	62252655	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.45095480473679E-5	0.0
18	59919888	A	G	18	62252655	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.84347801762486E-5	0.0
18	59919888	A	T	18	62252655	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.56170445805922E-5	0.006
18	59919889	T	A	18	62252656	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0382686393630888	0.316
18	59919889	T	C	18	62252656	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.64601680704578E-4	0.01
18	59919889	T	G	18	62252656	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998960362380514	0.974
18	59919890	T	A	18	62252657	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00288200709611021	0.028
18	59919890	T	C	18	62252657	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.68312285004302E-5	0.0
18	59919890	T	G	18	62252657	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.49916632119947E-4	0.034
18	59919891	T	A	18	62252658	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.705061437617846	0.668
18	59919891	T	C	18	62252658	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.79734593572472E-4	0.016
18	59919891	T	G	18	62252658	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.629680664203236	0.636
18	59919892	T	A	18	62252659	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.86904426726244	0.66
18	59919892	T	C	18	62252659	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0382823348306504	0.138
18	59919892	T	G	18	62252659	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.974130742332766	0.646
18	59919893	T	A	18	62252660	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.86688321515233E-4	0.002
18	59919893	T	C	18	62252660	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.37250696879972E-4	0.09
18	59919893	T	G	18	62252660	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.31714361352131E-5	0.042
18	59919894	C	A	18	62252661	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.144905028861477	0.298
18	59919894	C	G	18	62252661	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.994769985515239	0.908
18	59919894	C	T	18	62252661	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00119408121579613	0.078
18	59919895	A	C	18	62252662	y	y	splicing	KIAA1468(NM_020854:exon12:c.1734-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1734-2A>C;ENST00000398130:exon12:c.1734-2A>C;ENST00000587725:exon12:c.1734-2A>C)	.	.	0.999988247793601	0.932
18	59919895	A	G	18	62252662	y	y	splicing	KIAA1468(NM_020854:exon12:c.1734-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1734-2A>G;ENST00000398130:exon12:c.1734-2A>G;ENST00000587725:exon12:c.1734-2A>G)	.	.	0.999988247793601	0.932
18	59919895	A	T	18	62252662	y	y	splicing	KIAA1468(NM_020854:exon12:c.1734-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1734-2A>T;ENST00000398130:exon12:c.1734-2A>T;ENST00000587725:exon12:c.1734-2A>T)	.	.	0.999988247793601	0.932
18	59919896	G	A	18	62252663	y	y	splicing	KIAA1468(NM_020854:exon12:c.1734-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1734-1G>A;ENST00000398130:exon12:c.1734-1G>A;ENST00000587725:exon12:c.1734-1G>A)	.	.	0.999990361384395	0.938
18	59919896	G	C	18	62252663	y	y	splicing	KIAA1468(NM_020854:exon12:c.1734-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1734-1G>C;ENST00000398130:exon12:c.1734-1G>C;ENST00000587725:exon12:c.1734-1G>C)	.	.	0.999990361384395	0.938
18	59919896	G	T	18	62252663	y	y	splicing	KIAA1468(NM_020854:exon12:c.1734-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1734-1G>T;ENST00000398130:exon12:c.1734-1G>T;ENST00000587725:exon12:c.1734-1G>T)	.	.	0.999990361384395	0.938
18	59919897	G	A	18	62252664	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon12:c.G1734A:p.R578R;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.G1734A:p.R578R;ENSG00000134444:ENST00000587725:exon12:c.G1734A:p.R578R;ENSG00000134444:ENST00000256858:exon12:c.G1734A:p.R578R;	0.00283841344036385	0.156
18	59919897	G	C	18	62252664	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.G1734C:p.R578S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.G1734C:p.R578S;ENSG00000134444:ENST00000587725:exon12:c.G1734C:p.R578S;ENSG00000134444:ENST00000256858:exon12:c.G1734C:p.R578S;	0.812994587130265	0.458
18	59919897	G	T	18	62252664	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.G1734T:p.R578S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.G1734T:p.R578S;ENSG00000134444:ENST00000587725:exon12:c.G1734T:p.R578S;ENSG00000134444:ENST00000256858:exon12:c.G1734T:p.R578S;	0.982502468119152	0.61
18	59919898	C	A	18	62252665	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.C1735A:p.Q579K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.C1735A:p.Q579K;ENSG00000134444:ENST00000587725:exon12:c.C1735A:p.Q579K;ENSG00000134444:ENST00000256858:exon12:c.C1735A:p.Q579K;	0.983673669305506	0.726
18	59919898	C	G	18	62252665	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.C1735G:p.Q579E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.C1735G:p.Q579E;ENSG00000134444:ENST00000587725:exon12:c.C1735G:p.Q579E;ENSG00000134444:ENST00000256858:exon12:c.C1735G:p.Q579E;	0.984075704363877	0.692
18	59919898	C	T	18	62252665	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon12:c.C1735T:p.Q579X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon12:c.C1735T:p.Q579X;ENSG00000134444:ENST00000587725:exon12:c.C1735T:p.Q579X;ENSG00000134444:ENST00000256858:exon12:c.C1735T:p.Q579X;	0.983090569774748	0.892
18	59919985	C	A	18	62252752	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.C1822A:p.Q608K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.C1822A:p.Q608K;ENSG00000134444:ENST00000587725:exon12:c.C1822A:p.Q608K;ENSG00000134444:ENST00000256858:exon12:c.C1822A:p.Q608K;	0.969698938060097	0.848
18	59919985	C	G	18	62252752	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.C1822G:p.Q608E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.C1822G:p.Q608E;ENSG00000134444:ENST00000587725:exon12:c.C1822G:p.Q608E;ENSG00000134444:ENST00000256858:exon12:c.C1822G:p.Q608E;	0.946987293562274	0.638
18	59919985	C	T	18	62252752	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon12:c.C1822T:p.Q608X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon12:c.C1822T:p.Q608X;ENSG00000134444:ENST00000587725:exon12:c.C1822T:p.Q608X;ENSG00000134444:ENST00000256858:exon12:c.C1822T:p.Q608X;	0.99862586897082	0.896
18	59919986	A	C	18	62252753	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.A1823C:p.Q608P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.A1823C:p.Q608P;ENSG00000134444:ENST00000587725:exon12:c.A1823C:p.Q608P;ENSG00000134444:ENST00000256858:exon12:c.A1823C:p.Q608P;	0.992704546710903	0.878
18	59919986	A	G	18	62252753	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.A1823G:p.Q608R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.A1823G:p.Q608R;ENSG00000134444:ENST00000587725:exon12:c.A1823G:p.Q608R;ENSG00000134444:ENST00000256858:exon12:c.A1823G:p.Q608R;	0.997576436034886	0.904
18	59919986	A	T	18	62252753	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.A1823T:p.Q608L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.A1823T:p.Q608L;ENSG00000134444:ENST00000587725:exon12:c.A1823T:p.Q608L;ENSG00000134444:ENST00000256858:exon12:c.A1823T:p.Q608L;	0.999307173650897	0.946
18	59919987	G	A	18	62252754	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon12:c.G1824A:p.Q608Q;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.G1824A:p.Q608Q;ENSG00000134444:ENST00000587725:exon12:c.G1824A:p.Q608Q;ENSG00000134444:ENST00000256858:exon12:c.G1824A:p.Q608Q;	0.999862684944495	0.88
18	59919987	G	C	18	62252754	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.G1824C:p.Q608H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.G1824C:p.Q608H;ENSG00000134444:ENST00000587725:exon12:c.G1824C:p.Q608H;ENSG00000134444:ENST00000256858:exon12:c.G1824C:p.Q608H;	0.99999679611991	0.99
18	59919987	G	T	18	62252754	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon12:c.G1824T:p.Q608H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon12:c.G1824T:p.Q608H;ENSG00000134444:ENST00000587725:exon12:c.G1824T:p.Q608H;ENSG00000134444:ENST00000256858:exon12:c.G1824T:p.Q608H;	0.999977868018173	0.99
18	59919988	G	A	18	62252755	y	y	splicing	KIAA1468(NM_020854:exon12:c.1824+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1824+1G>A;ENST00000398130:exon12:c.1824+1G>A;ENST00000587725:exon12:c.1824+1G>A)	.	.	0.999990361384395	0.938
18	59919988	G	C	18	62252755	y	y	splicing	KIAA1468(NM_020854:exon12:c.1824+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1824+1G>C;ENST00000398130:exon12:c.1824+1G>C;ENST00000587725:exon12:c.1824+1G>C)	.	.	0.999990361384395	0.938
18	59919988	G	T	18	62252755	y	y	splicing	KIAA1468(NM_020854:exon12:c.1824+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1824+1G>T;ENST00000398130:exon12:c.1824+1G>T;ENST00000587725:exon12:c.1824+1G>T)	.	.	0.999990361384395	0.938
18	59919989	T	A	18	62252756	y	y	splicing	KIAA1468(NM_020854:exon12:c.1824+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1824+2T>A;ENST00000398130:exon12:c.1824+2T>A;ENST00000587725:exon12:c.1824+2T>A)	.	.	0.999988247793601	0.932
18	59919989	T	C	18	62252756	y	y	splicing	KIAA1468(NM_020854:exon12:c.1824+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1824+2T>C;ENST00000398130:exon12:c.1824+2T>C;ENST00000587725:exon12:c.1824+2T>C)	.	.	0.99340600729494	0.712
18	59919989	T	G	18	62252756	y	y	splicing	KIAA1468(NM_020854:exon12:c.1824+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon12:c.1824+2T>G;ENST00000398130:exon12:c.1824+2T>G;ENST00000587725:exon12:c.1824+2T>G)	.	.	0.999988247793601	0.932
18	59919990	A	C	18	62252757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997788753115913	0.894
18	59919990	A	G	18	62252757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.61223737117098	0.66
18	59919990	A	T	18	62252757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99775616986936	0.876
18	59919991	A	C	18	62252758	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.994391430143987	0.854
18	59919991	A	G	18	62252758	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998360343487026	0.848
18	59919991	A	T	18	62252758	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99807159853156	0.876
18	59919992	A	C	18	62252759	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.29326324847411E-4	0.04
18	59919992	A	G	18	62252759	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08948825161019E-5	0.034
18	59919992	A	T	18	62252759	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.08750169356594E-4	0.026
18	59919993	T	A	18	62252760	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.426220255987431	0.37
18	59919993	T	C	18	62252760	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.485317775603856	0.512
18	59919993	T	G	18	62252760	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.237174942254816	0.348
18	59919994	A	C	18	62252761	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.69858957237674E-5	0.0
18	59919994	A	G	18	62252761	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.25729171259597E-5	0.008
18	59919994	A	T	18	62252761	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.00787505764898E-5	0.0
18	59919995	A	C	18	62252762	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.7206022504874E-5	0.0
18	59919995	A	G	18	62252762	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.98674174095525E-5	0.0
18	59919995	A	T	18	62252762	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.35486261238438E-5	0.0
18	59922628	T	A	18	62255395	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.54113209926807E-5	0.034
18	59922628	T	C	18	62255395	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.78416951405619E-5	0.04
18	59922628	T	G	18	62255395	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.41180355890713E-5	0.072
18	59922629	T	A	18	62255396	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00965062156940506	0.39
18	59922629	T	C	18	62255396	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0045948114737073	0.102
18	59922629	T	G	18	62255396	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00708509243016846	0.336
18	59922630	T	A	18	62255397	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00894476856408896	0.388
18	59922630	T	C	18	62255397	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00179027919710241	0.11
18	59922630	T	G	18	62255397	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00952177250068659	0.362
18	59922631	T	A	18	62255398	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.43097125904432E-4	0.104
18	59922631	T	C	18	62255398	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.26507505620288E-4	0.006
18	59922631	T	G	18	62255398	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.504951073248E-4	0.134
18	59922632	T	A	18	62255399	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999098691645464	0.992
18	59922632	T	C	18	62255399	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.9695631071406E-5	0.0
18	59922632	T	G	18	62255399	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.60364511975815E-4	0.044
18	59922633	G	A	18	62255400	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.2041727452414E-5	0.0
18	59922633	G	C	18	62255400	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.28290758882424E-5	0.0
18	59922633	G	T	18	62255400	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.15650423199578E-5	0.0
18	59922634	C	A	18	62255401	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00151201771458073	0.11
18	59922634	C	G	18	62255401	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00300054293926826	0.162
18	59922634	C	T	18	62255401	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.48360802418705E-4	0.004
18	59922635	T	A	18	62255402	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.216490256584957	0.458
18	59922635	T	C	18	62255402	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00941517670015237	0.09
18	59922635	T	G	18	62255402	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0656977656760985	0.43
18	59922636	C	A	18	62255403	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.44144141801592E-4	0.016
18	59922636	C	G	18	62255403	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.49459673439087E-4	0.018
18	59922636	C	T	18	62255403	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.7124637569137E-4	0.012
18	59922637	T	A	18	62255404	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.11646461766832	0.334
18	59922637	T	C	18	62255404	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.92449660248747E-5	0.02
18	59922637	T	G	18	62255404	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993837006265765	0.652
18	59922638	A	C	18	62255405	y	y	splicing	KIAA1468(NM_020854:exon13:c.1825-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1825-2A>C;ENST00000398130:exon13:c.1825-2A>C;ENST00000587725:exon13:c.1825-2A>C)	.	.	0.999988247793601	0.93
18	59922638	A	G	18	62255405	y	y	splicing	KIAA1468(NM_020854:exon13:c.1825-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1825-2A>G;ENST00000398130:exon13:c.1825-2A>G;ENST00000587725:exon13:c.1825-2A>G)	.	.	0.999988247793601	0.93
18	59922638	A	T	18	62255405	y	y	splicing	KIAA1468(NM_020854:exon13:c.1825-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1825-2A>T;ENST00000398130:exon13:c.1825-2A>T;ENST00000587725:exon13:c.1825-2A>T)	.	.	0.999988247793601	0.93
18	59922639	G	A	18	62255406	y	y	splicing	KIAA1468(NM_020854:exon13:c.1825-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1825-1G>A;ENST00000398130:exon13:c.1825-1G>A;ENST00000587725:exon13:c.1825-1G>A)	.	.	0.999990361384395	0.938
18	59922639	G	C	18	62255406	y	y	splicing	KIAA1468(NM_020854:exon13:c.1825-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1825-1G>C;ENST00000398130:exon13:c.1825-1G>C;ENST00000587725:exon13:c.1825-1G>C)	.	.	0.999990361384395	0.938
18	59922639	G	T	18	62255406	y	y	splicing	KIAA1468(NM_020854:exon13:c.1825-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1825-1G>T;ENST00000398130:exon13:c.1825-1G>T;ENST00000587725:exon13:c.1825-1G>T)	.	.	0.999990361384395	0.938
18	59922640	A	C	18	62255407	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.A1825C:p.I609L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.A1825C:p.I609L;ENSG00000134444:ENST00000587725:exon13:c.A1825C:p.I609L;ENSG00000134444:ENST00000256858:exon13:c.A1825C:p.I609L;	0.607541648454841	0.716
18	59922640	A	G	18	62255407	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.A1825G:p.I609V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.A1825G:p.I609V;ENSG00000134444:ENST00000587725:exon13:c.A1825G:p.I609V;ENSG00000134444:ENST00000256858:exon13:c.A1825G:p.I609V;	0.615344468946284	0.6
18	59922640	A	T	18	62255407	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.A1825T:p.I609F;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.A1825T:p.I609F;ENSG00000134444:ENST00000587725:exon13:c.A1825T:p.I609F;ENSG00000134444:ENST00000256858:exon13:c.A1825T:p.I609F;	0.548961863000426	0.638
18	59922641	T	A	18	62255408	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.T1826A:p.I609N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.T1826A:p.I609N;ENSG00000134444:ENST00000587725:exon13:c.T1826A:p.I609N;ENSG00000134444:ENST00000256858:exon13:c.T1826A:p.I609N;	0.454340709917171	0.646
18	59922641	T	C	18	62255408	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.T1826C:p.I609T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.T1826C:p.I609T;ENSG00000134444:ENST00000587725:exon13:c.T1826C:p.I609T;ENSG00000134444:ENST00000256858:exon13:c.T1826C:p.I609T;	0.504908432069743	0.634
18	59922641	T	G	18	62255408	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.T1826G:p.I609S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.T1826G:p.I609S;ENSG00000134444:ENST00000587725:exon13:c.T1826G:p.I609S;ENSG00000134444:ENST00000256858:exon13:c.T1826G:p.I609S;	0.528907739803241	0.57
18	59922709	C	A	18	62255476	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.C1894A:p.P632T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.C1894A:p.P632T;ENSG00000134444:ENST00000587725:exon13:c.C1894A:p.P632T;ENSG00000134444:ENST00000256858:exon13:c.C1894A:p.P632T;	0.919573914534386	0.772
18	59922709	C	G	18	62255476	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.C1894G:p.P632A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.C1894G:p.P632A;ENSG00000134444:ENST00000587725:exon13:c.C1894G:p.P632A;ENSG00000134444:ENST00000256858:exon13:c.C1894G:p.P632A;	0.987197115704869	0.702
18	59922709	C	T	18	62255476	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.C1894T:p.P632S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.C1894T:p.P632S;ENSG00000134444:ENST00000587725:exon13:c.C1894T:p.P632S;ENSG00000134444:ENST00000256858:exon13:c.C1894T:p.P632S;	0.795222853845197	0.59
18	59922710	C	A	18	62255477	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.C1895A:p.P632H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.C1895A:p.P632H;ENSG00000134444:ENST00000587725:exon13:c.C1895A:p.P632H;ENSG00000134444:ENST00000256858:exon13:c.C1895A:p.P632H;	0.974865636552299	0.682
18	59922710	C	G	18	62255477	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.C1895G:p.P632R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.C1895G:p.P632R;ENSG00000134444:ENST00000587725:exon13:c.C1895G:p.P632R;ENSG00000134444:ENST00000256858:exon13:c.C1895G:p.P632R;	0.930096405863051	0.568
18	59922710	C	T	18	62255477	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon13:c.C1895T:p.P632L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.C1895T:p.P632L;ENSG00000134444:ENST00000587725:exon13:c.C1895T:p.P632L;ENSG00000134444:ENST00000256858:exon13:c.C1895T:p.P632L;	0.990461411545019	0.726
18	59922711	T	A	18	62255478	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon13:c.T1896A:p.P632P;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.T1896A:p.P632P;ENSG00000134444:ENST00000587725:exon13:c.T1896A:p.P632P;ENSG00000134444:ENST00000256858:exon13:c.T1896A:p.P632P;	5.96647897394664E-5	0.06
18	59922711	T	C	18	62255478	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon13:c.T1896C:p.P632P;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.T1896C:p.P632P;ENSG00000134444:ENST00000587725:exon13:c.T1896C:p.P632P;ENSG00000134444:ENST00000256858:exon13:c.T1896C:p.P632P;	6.42733667479193E-5	0.212
18	59922711	T	G	18	62255478	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon13:c.T1896G:p.P632P;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon13:c.T1896G:p.P632P;ENSG00000134444:ENST00000587725:exon13:c.T1896G:p.P632P;ENSG00000134444:ENST00000256858:exon13:c.T1896G:p.P632P;	6.01361872694209E-5	0.032
18	59922712	G	A	18	62255479	y	y	splicing	KIAA1468(NM_020854:exon13:c.1896+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1896+1G>A;ENST00000398130:exon13:c.1896+1G>A;ENST00000587725:exon13:c.1896+1G>A)	.	.	0.999992425382947	0.942
18	59922712	G	C	18	62255479	y	y	splicing	KIAA1468(NM_020854:exon13:c.1896+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1896+1G>C;ENST00000398130:exon13:c.1896+1G>C;ENST00000587725:exon13:c.1896+1G>C)	.	.	0.999992425382947	0.942
18	59922712	G	T	18	62255479	y	y	splicing	KIAA1468(NM_020854:exon13:c.1896+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1896+1G>T;ENST00000398130:exon13:c.1896+1G>T;ENST00000587725:exon13:c.1896+1G>T)	.	.	0.999992425382947	0.942
18	59922713	T	A	18	62255480	y	y	splicing	KIAA1468(NM_020854:exon13:c.1896+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1896+2T>A;ENST00000398130:exon13:c.1896+2T>A;ENST00000587725:exon13:c.1896+2T>A)	.	.	0.999990764389106	0.942
18	59922713	T	C	18	62255480	y	y	splicing	KIAA1468(NM_020854:exon13:c.1896+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1896+2T>C;ENST00000398130:exon13:c.1896+2T>C;ENST00000587725:exon13:c.1896+2T>C)	.	.	0.999940673644476	0.91
18	59922713	T	G	18	62255480	y	y	splicing	KIAA1468(NM_020854:exon13:c.1896+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon13:c.1896+2T>G;ENST00000398130:exon13:c.1896+2T>G;ENST00000587725:exon13:c.1896+2T>G)	.	.	0.999990764389106	0.942
18	59922714	A	C	18	62255481	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999780114159837	0.922
18	59922714	A	G	18	62255481	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993940446870221	0.672
18	59922714	A	T	18	62255481	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999755176951537	0.916
18	59922715	A	C	18	62255482	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999865712985097	0.94
18	59922715	A	G	18	62255482	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999902075854149	0.964
18	59922715	A	T	18	62255482	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999926055324464	0.926
18	59922716	G	A	18	62255483	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999983013956635	1.0
18	59922716	G	C	18	62255483	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999987814105535	0.998
18	59922716	G	T	18	62255483	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999980743031316	0.98
18	59922717	A	C	18	62255484	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.33705903910882E-4	0.07
18	59922717	A	G	18	62255484	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.04310660681845E-5	0.0
18	59922717	A	T	18	62255484	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.91987184230141E-5	0.062
18	59922718	T	A	18	62255485	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.80996688083941E-5	0.0
18	59922718	T	C	18	62255485	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.72552030806067E-5	0.002
18	59922718	T	G	18	62255485	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.07245811008504E-5	0.0
18	59922719	T	A	18	62255486	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.70735052531028E-4	0.164
18	59922719	T	C	18	62255486	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.25347214868071E-5	0.014
18	59922719	T	G	18	62255486	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.79128953565075E-5	0.014
18	59925169	G	A	18	62257936	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00128594170197599	0.118
18	59925169	G	C	18	62257936	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.19839900978179E-4	0.004
18	59925169	G	T	18	62257936	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.91125516176523E-5	0.026
18	59925170	T	A	18	62257937	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995034164135425	0.578
18	59925170	T	C	18	62257937	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0169989055989317	0.434
18	59925170	T	G	18	62257937	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995964423718115	0.56
18	59925171	T	A	18	62257938	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998967160414944	0.908
18	59925171	T	C	18	62257938	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.274060895717424	0.31
18	59925171	T	G	18	62257938	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996880103333885	0.854
18	59925172	T	A	18	62257939	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.794048630762716	0.552
18	59925172	T	C	18	62257939	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.94412172271829E-4	0.094
18	59925172	T	G	18	62257939	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.68556942608063	0.588
18	59925173	A	C	18	62257940	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00147060119586391	0.036
18	59925173	A	G	18	62257940	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00369049708028159	0.05
18	59925173	A	T	18	62257940	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.47436057439338E-4	0.022
18	59925174	T	A	18	62257941	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0225512870907443	0.206
18	59925174	T	C	18	62257941	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.96373034529627E-4	0.142
18	59925174	T	G	18	62257941	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999882469625262	0.988
18	59925175	T	A	18	62257942	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.988089859387103	0.832
18	59925175	T	C	18	62257942	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.93261188971404E-4	0.084
18	59925175	T	G	18	62257942	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.983324377982662	0.886
18	59925176	T	A	18	62257943	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.994417153107248	0.89
18	59925176	T	C	18	62257943	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.157705513595141	0.29
18	59925176	T	G	18	62257943	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.989673379287749	0.874
18	59925177	T	A	18	62257944	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00961106538787644	0.114
18	59925177	T	C	18	62257944	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00668594485687285	0.118
18	59925177	T	G	18	62257944	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00719092496722847	0.116
18	59925178	C	A	18	62257945	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999594154427881	0.908
18	59925178	C	G	18	62257945	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999914301090527	0.95
18	59925178	C	T	18	62257945	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.492466822091993	0.264
18	59925179	A	C	18	62257946	y	y	splicing	KIAA1468(NM_020854:exon14:c.1897-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.1897-2A>C;ENST00000398130:exon14:c.1897-2A>C;ENST00000587725:exon14:c.1897-2A>C)	.	.	0.999988624979899	0.936
18	59925179	A	G	18	62257946	y	y	splicing	KIAA1468(NM_020854:exon14:c.1897-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.1897-2A>G;ENST00000398130:exon14:c.1897-2A>G;ENST00000587725:exon14:c.1897-2A>G)	.	.	0.999988624979899	0.936
18	59925179	A	T	18	62257946	y	y	splicing	KIAA1468(NM_020854:exon14:c.1897-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.1897-2A>T;ENST00000398130:exon14:c.1897-2A>T;ENST00000587725:exon14:c.1897-2A>T)	.	.	0.999988624979899	0.936
18	59925180	G	A	18	62257947	y	y	splicing	KIAA1468(NM_020854:exon14:c.1897-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.1897-1G>A;ENST00000398130:exon14:c.1897-1G>A;ENST00000587725:exon14:c.1897-1G>A)	.	.	0.999984967332678	0.94
18	59925180	G	C	18	62257947	y	y	splicing	KIAA1468(NM_020854:exon14:c.1897-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.1897-1G>C;ENST00000398130:exon14:c.1897-1G>C;ENST00000587725:exon14:c.1897-1G>C)	.	.	0.999984967332678	0.94
18	59925180	G	T	18	62257947	y	y	splicing	KIAA1468(NM_020854:exon14:c.1897-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.1897-1G>T;ENST00000398130:exon14:c.1897-1G>T;ENST00000587725:exon14:c.1897-1G>T)	.	.	0.999984967332678	0.94
18	59925181	A	C	18	62257948	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.A1897C:p.K633Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.A1897C:p.K633Q;ENSG00000134444:ENST00000587725:exon14:c.A1897C:p.K633Q;ENSG00000134444:ENST00000256858:exon14:c.A1897C:p.K633Q;	0.548770525439168	0.618
18	59925181	A	G	18	62257948	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.A1897G:p.K633E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.A1897G:p.K633E;ENSG00000134444:ENST00000587725:exon14:c.A1897G:p.K633E;ENSG00000134444:ENST00000256858:exon14:c.A1897G:p.K633E;	0.00184626626689727	0.086
18	59925181	A	T	18	62257948	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon14:c.A1897T:p.K633X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon14:c.A1897T:p.K633X;ENSG00000134444:ENST00000587725:exon14:c.A1897T:p.K633X;ENSG00000134444:ENST00000256858:exon14:c.A1897T:p.K633X;	0.69433019273578	0.598
18	59925182	A	C	18	62257949	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.A1898C:p.K633T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.A1898C:p.K633T;ENSG00000134444:ENST00000587725:exon14:c.A1898C:p.K633T;ENSG00000134444:ENST00000256858:exon14:c.A1898C:p.K633T;	0.234185114866508	0.494
18	59925182	A	G	18	62257949	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.A1898G:p.K633R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.A1898G:p.K633R;ENSG00000134444:ENST00000587725:exon14:c.A1898G:p.K633R;ENSG00000134444:ENST00000256858:exon14:c.A1898G:p.K633R;	0.701725307052213	0.59
18	59925182	A	T	18	62257949	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.A1898T:p.K633I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.A1898T:p.K633I;ENSG00000134444:ENST00000587725:exon14:c.A1898T:p.K633I;ENSG00000134444:ENST00000256858:exon14:c.A1898T:p.K633I;	0.557625184437116	0.632
18	59925319	C	A	18	62258086	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.C2035A:p.Q679K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.C2035A:p.Q679K;ENSG00000134444:ENST00000587725:exon14:c.C2035A:p.Q679K;ENSG00000134444:ENST00000256858:exon14:c.C2035A:p.Q679K;	0.952046431358764	0.804
18	59925319	C	G	18	62258086	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.C2035G:p.Q679E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.C2035G:p.Q679E;ENSG00000134444:ENST00000587725:exon14:c.C2035G:p.Q679E;ENSG00000134444:ENST00000256858:exon14:c.C2035G:p.Q679E;	0.87564094238626	0.636
18	59925319	C	T	18	62258086	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon14:c.C2035T:p.Q679X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon14:c.C2035T:p.Q679X;ENSG00000134444:ENST00000587725:exon14:c.C2035T:p.Q679X;ENSG00000134444:ENST00000256858:exon14:c.C2035T:p.Q679X;	0.995653440311063	0.856
18	59925320	A	C	18	62258087	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.A2036C:p.Q679P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.A2036C:p.Q679P;ENSG00000134444:ENST00000587725:exon14:c.A2036C:p.Q679P;ENSG00000134444:ENST00000256858:exon14:c.A2036C:p.Q679P;	0.987943441291649	0.892
18	59925320	A	G	18	62258087	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.A2036G:p.Q679R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.A2036G:p.Q679R;ENSG00000134444:ENST00000587725:exon14:c.A2036G:p.Q679R;ENSG00000134444:ENST00000256858:exon14:c.A2036G:p.Q679R;	0.997294331498933	0.908
18	59925320	A	T	18	62258087	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.A2036T:p.Q679L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.A2036T:p.Q679L;ENSG00000134444:ENST00000587725:exon14:c.A2036T:p.Q679L;ENSG00000134444:ENST00000256858:exon14:c.A2036T:p.Q679L;	0.999323201851041	0.934
18	59925321	G	A	18	62258088	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon14:c.G2037A:p.Q679Q;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.G2037A:p.Q679Q;ENSG00000134444:ENST00000587725:exon14:c.G2037A:p.Q679Q;ENSG00000134444:ENST00000256858:exon14:c.G2037A:p.Q679Q;	0.973512581496599	0.836
18	59925321	G	C	18	62258088	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.G2037C:p.Q679H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.G2037C:p.Q679H;ENSG00000134444:ENST00000587725:exon14:c.G2037C:p.Q679H;ENSG00000134444:ENST00000256858:exon14:c.G2037C:p.Q679H;	0.999926641751005	0.986
18	59925321	G	T	18	62258088	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon14:c.G2037T:p.Q679H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon14:c.G2037T:p.Q679H;ENSG00000134444:ENST00000587725:exon14:c.G2037T:p.Q679H;ENSG00000134444:ENST00000256858:exon14:c.G2037T:p.Q679H;	0.999942799960425	0.974
18	59925322	G	A	18	62258089	y	y	splicing	KIAA1468(NM_020854:exon14:c.2037+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.2037+1G>A;ENST00000398130:exon14:c.2037+1G>A;ENST00000587725:exon14:c.2037+1G>A)	.	.	0.999986675681007	0.932
18	59925322	G	C	18	62258089	y	y	splicing	KIAA1468(NM_020854:exon14:c.2037+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.2037+1G>C;ENST00000398130:exon14:c.2037+1G>C;ENST00000587725:exon14:c.2037+1G>C)	.	.	0.999986675681007	0.932
18	59925322	G	T	18	62258089	y	y	splicing	KIAA1468(NM_020854:exon14:c.2037+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.2037+1G>T;ENST00000398130:exon14:c.2037+1G>T;ENST00000587725:exon14:c.2037+1G>T)	.	.	0.999986675681007	0.932
18	59925323	T	A	18	62258090	y	y	splicing	KIAA1468(NM_020854:exon14:c.2037+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.2037+2T>A;ENST00000398130:exon14:c.2037+2T>A;ENST00000587725:exon14:c.2037+2T>A)	.	.	0.999988247793601	0.928
18	59925323	T	C	18	62258090	y	y	splicing	KIAA1468(NM_020854:exon14:c.2037+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.2037+2T>C;ENST00000398130:exon14:c.2037+2T>C;ENST00000587725:exon14:c.2037+2T>C)	.	.	0.991305317320824	0.608
18	59925323	T	G	18	62258090	y	y	splicing	KIAA1468(NM_020854:exon14:c.2037+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon14:c.2037+2T>G;ENST00000398130:exon14:c.2037+2T>G;ENST00000587725:exon14:c.2037+2T>G)	.	.	0.999988247793601	0.928
18	59925324	A	C	18	62258091	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.883643715710899	0.56
18	59925324	A	G	18	62258091	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0808258151711398	0.446
18	59925324	A	T	18	62258091	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.874532276724183	0.612
18	59925325	T	A	18	62258092	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.13168306991122E-4	0.044
18	59925325	T	C	18	62258092	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.53803743500757E-4	0.012
18	59925325	T	G	18	62258092	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.02850452945163E-4	0.004
18	59925326	G	A	18	62258093	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.752213430600235	0.436
18	59925326	G	C	18	62258093	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.390726728073092	0.556
18	59925326	G	T	18	62258093	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.509513512631434	0.478
18	59925327	T	A	18	62258094	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0050900655951943	0.136
18	59925327	T	C	18	62258094	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00556746651987479	0.15
18	59925327	T	G	18	62258094	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.96974667448058E-4	0.088
18	59925328	T	A	18	62258095	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.47992019490626E-4	0.002
18	59925328	T	C	18	62258095	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.47992019490626E-4	0.002
18	59925328	T	G	18	62258095	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.47992019490626E-4	0.002
18	59925329	T	A	18	62258096	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0676973642210447	0.332
18	59925329	T	C	18	62258096	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0303688688743857	0.204
18	59925329	T	G	18	62258096	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0416574133882377	0.164
18	59925733	T	A	18	62258500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.803650314982219	0.556
18	59925733	T	C	18	62258500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00123966568721477	0.102
18	59925733	T	G	18	62258500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.658770821524501	0.526
18	59925734	C	A	18	62258501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0112436378029684	0.16
18	59925734	C	G	18	62258501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.54917520028399E-4	0.018
18	59925734	C	T	18	62258501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.25204947159058E-5	0.028
18	59925735	T	A	18	62258502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00135466563783834	0.076
18	59925735	T	C	18	62258502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.29586394307105E-5	0.008
18	59925735	T	G	18	62258502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.99537318183134E-4	0.13
18	59925736	C	A	18	62258503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.80441787849745E-4	0.05
18	59925736	C	G	18	62258503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.21284804640504E-5	0.02
18	59925736	C	T	18	62258503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.49276431567153E-5	0.0
18	59925737	A	C	18	62258504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.374233747023E-4	0.006
18	59925737	A	G	18	62258504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.46199079349091E-4	0.004
18	59925737	A	T	18	62258504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.68525315635056E-4	0.004
18	59925738	T	A	18	62258505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.220903863771906	0.172
18	59925738	T	C	18	62258505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.88137207711247E-4	0.012
18	59925738	T	G	18	62258505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999796433136657	0.99
18	59925739	T	A	18	62258506	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999209562574879	0.958
18	59925739	T	C	18	62258506	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.02956591473478E-4	0.004
18	59925739	T	G	18	62258506	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0178397230745872	0.334
18	59925740	G	A	18	62258507	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.02963634315228E-4	0.0
18	59925740	G	C	18	62258507	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.98431868219503E-4	0.002
18	59925740	G	T	18	62258507	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.35732261866245E-4	0.004
18	59925741	A	C	18	62258508	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.86352311710527E-5	0.004
18	59925741	A	G	18	62258508	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.38099708327629E-4	0.002
18	59925741	A	T	18	62258508	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.1599192121858E-5	0.012
18	59925742	C	A	18	62258509	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993466610403071	0.652
18	59925742	C	G	18	62258509	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999815067988596	0.948
18	59925742	C	T	18	62258509	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0555943220195288	0.206
18	59925743	A	C	18	62258510	y	y	splicing	KIAA1468(NM_020854:exon15:c.2038-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2038-2A>C;ENST00000398130:exon15:c.2038-2A>C;ENST00000587725:exon15:c.2038-2A>C)	.	.	0.999988247793601	0.928
18	59925743	A	G	18	62258510	y	y	splicing	KIAA1468(NM_020854:exon15:c.2038-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2038-2A>G;ENST00000398130:exon15:c.2038-2A>G;ENST00000587725:exon15:c.2038-2A>G)	.	.	0.999988247793601	0.928
18	59925743	A	T	18	62258510	y	y	splicing	KIAA1468(NM_020854:exon15:c.2038-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2038-2A>T;ENST00000398130:exon15:c.2038-2A>T;ENST00000587725:exon15:c.2038-2A>T)	.	.	0.999988247793601	0.928
18	59925744	G	A	18	62258511	y	y	splicing	KIAA1468(NM_020854:exon15:c.2038-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2038-1G>A;ENST00000398130:exon15:c.2038-1G>A;ENST00000587725:exon15:c.2038-1G>A)	.	.	0.999989072007339	0.934
18	59925744	G	C	18	62258511	y	y	splicing	KIAA1468(NM_020854:exon15:c.2038-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2038-1G>C;ENST00000398130:exon15:c.2038-1G>C;ENST00000587725:exon15:c.2038-1G>C)	.	.	0.999989072007339	0.932
18	59925744	G	T	18	62258511	y	y	splicing	KIAA1468(NM_020854:exon15:c.2038-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2038-1G>T;ENST00000398130:exon15:c.2038-1G>T;ENST00000587725:exon15:c.2038-1G>T)	.	.	0.999989072007339	0.932
18	59925745	G	A	18	62258512	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2038A:p.G680S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2038A:p.G680S;ENSG00000134444:ENST00000587725:exon15:c.G2038A:p.G680S;ENSG00000134444:ENST00000256858:exon15:c.G2038A:p.G680S;	0.998463751583857	0.844
18	59925745	G	C	18	62258512	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2038C:p.G680R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2038C:p.G680R;ENSG00000134444:ENST00000587725:exon15:c.G2038C:p.G680R;ENSG00000134444:ENST00000256858:exon15:c.G2038C:p.G680R;	0.999712139535164	0.924
18	59925745	G	T	18	62258512	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2038T:p.G680C;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2038T:p.G680C;ENSG00000134444:ENST00000587725:exon15:c.G2038T:p.G680C;ENSG00000134444:ENST00000256858:exon15:c.G2038T:p.G680C;	0.993723018269334	0.886
18	59925746	G	A	18	62258513	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2039A:p.G680D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2039A:p.G680D;ENSG00000134444:ENST00000587725:exon15:c.G2039A:p.G680D;ENSG00000134444:ENST00000256858:exon15:c.G2039A:p.G680D;	0.986777691078033	0.818
18	59925746	G	C	18	62258513	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2039C:p.G680A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2039C:p.G680A;ENSG00000134444:ENST00000587725:exon15:c.G2039C:p.G680A;ENSG00000134444:ENST00000256858:exon15:c.G2039C:p.G680A;	0.00139591078613186	0.05
18	59925746	G	T	18	62258513	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2039T:p.G680V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2039T:p.G680V;ENSG00000134444:ENST00000587725:exon15:c.G2039T:p.G680V;ENSG00000134444:ENST00000256858:exon15:c.G2039T:p.G680V;	0.534644335612719	0.616
18	59925907	A	C	18	62258674	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon15:c.A2200C:p.R734R;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.A2200C:p.R734R;ENSG00000134444:ENST00000587725:exon15:c.A2200C:p.R734R;ENSG00000134444:ENST00000256858:exon15:c.A2200C:p.R734R;	0.00905090528811994	0.094
18	59925907	A	G	18	62258674	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.A2200G:p.R734G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.A2200G:p.R734G;ENSG00000134444:ENST00000587725:exon15:c.A2200G:p.R734G;ENSG00000134444:ENST00000256858:exon15:c.A2200G:p.R734G;	0.319946188909627	0.354
18	59925907	A	T	18	62258674	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.A2200T:p.R734W;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.A2200T:p.R734W;ENSG00000134444:ENST00000587725:exon15:c.A2200T:p.R734W;ENSG00000134444:ENST00000256858:exon15:c.A2200T:p.R734W;	0.936214721001184	0.454
18	59925908	G	A	18	62258675	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2201A:p.R734K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2201A:p.R734K;ENSG00000134444:ENST00000587725:exon15:c.G2201A:p.R734K;ENSG00000134444:ENST00000256858:exon15:c.G2201A:p.R734K;	0.00377862536454612	0.054
18	59925908	G	C	18	62258675	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2201C:p.R734T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2201C:p.R734T;ENSG00000134444:ENST00000587725:exon15:c.G2201C:p.R734T;ENSG00000134444:ENST00000256858:exon15:c.G2201C:p.R734T;	0.0514873890031796	0.194
18	59925908	G	T	18	62258675	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2201T:p.R734M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2201T:p.R734M;ENSG00000134444:ENST00000587725:exon15:c.G2201T:p.R734M;ENSG00000134444:ENST00000256858:exon15:c.G2201T:p.R734M;	0.0746896087522826	0.176
18	59925909	G	A	18	62258676	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon15:c.G2202A:p.R734R;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2202A:p.R734R;ENSG00000134444:ENST00000587725:exon15:c.G2202A:p.R734R;ENSG00000134444:ENST00000256858:exon15:c.G2202A:p.R734R;	0.731453087301446	0.596
18	59925909	G	C	18	62258676	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2202C:p.R734S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2202C:p.R734S;ENSG00000134444:ENST00000587725:exon15:c.G2202C:p.R734S;ENSG00000134444:ENST00000256858:exon15:c.G2202C:p.R734S;	0.987487696972383	0.884
18	59925909	G	T	18	62258676	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon15:c.G2202T:p.R734S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon15:c.G2202T:p.R734S;ENSG00000134444:ENST00000587725:exon15:c.G2202T:p.R734S;ENSG00000134444:ENST00000256858:exon15:c.G2202T:p.R734S;	0.977628394292022	0.87
18	59925910	G	A	18	62258677	y	y	splicing	KIAA1468(NM_020854:exon15:c.2202+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2202+1G>A;ENST00000398130:exon15:c.2202+1G>A;ENST00000587725:exon15:c.2202+1G>A)	.	.	0.999989072007339	0.934
18	59925910	G	C	18	62258677	y	y	splicing	KIAA1468(NM_020854:exon15:c.2202+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2202+1G>C;ENST00000398130:exon15:c.2202+1G>C;ENST00000587725:exon15:c.2202+1G>C)	.	.	0.999989072007339	0.934
18	59925910	G	T	18	62258677	y	y	splicing	KIAA1468(NM_020854:exon15:c.2202+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2202+1G>T;ENST00000398130:exon15:c.2202+1G>T;ENST00000587725:exon15:c.2202+1G>T)	.	.	0.999989072007339	0.934
18	59925911	T	A	18	62258678	y	y	splicing	KIAA1468(NM_020854:exon15:c.2202+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2202+2T>A;ENST00000398130:exon15:c.2202+2T>A;ENST00000587725:exon15:c.2202+2T>A)	.	.	0.999988247793601	0.932
18	59925911	T	C	18	62258678	y	y	splicing	KIAA1468(NM_020854:exon15:c.2202+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2202+2T>C;ENST00000398130:exon15:c.2202+2T>C;ENST00000587725:exon15:c.2202+2T>C)	.	.	0.992054276455321	0.654
18	59925911	T	G	18	62258678	y	y	splicing	KIAA1468(NM_020854:exon15:c.2202+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon15:c.2202+2T>G;ENST00000398130:exon15:c.2202+2T>G;ENST00000587725:exon15:c.2202+2T>G)	.	.	0.999988247793601	0.932
18	59925912	A	C	18	62258679	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.134470769092817	0.25
18	59925912	A	G	18	62258679	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.74241840153928E-4	0.004
18	59925912	A	T	18	62258679	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0688297940308602	0.266
18	59925913	A	C	18	62258680	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0539216138919502	0.258
18	59925913	A	G	18	62258680	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.181306360373193	0.464
18	59925913	A	T	18	62258680	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.072258192956754	0.382
18	59925914	G	A	18	62258681	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.972238887323039	0.64
18	59925914	G	C	18	62258681	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.990615070037644	0.646
18	59925914	G	T	18	62258681	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.944588538729479	0.518
18	59925915	T	A	18	62258682	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00338759493691506	0.066
18	59925915	T	C	18	62258682	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00238569232526478	0.054
18	59925915	T	G	18	62258682	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.33315009178349E-4	0.052
18	59925916	T	A	18	62258683	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.73186234223837E-5	0.008
18	59925916	T	C	18	62258683	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.89745801126006E-5	0.002
18	59925916	T	G	18	62258683	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.21769786741982E-4	0.0
18	59925917	C	A	18	62258684	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.21364670957993E-4	0.002
18	59925917	C	G	18	62258684	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.56309815020122E-4	0.002
18	59925917	C	T	18	62258684	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.5828886023085E-4	0.002
18	59928732	C	A	18	62261499	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.21991452872833E-4	0.098
18	59928732	C	G	18	62261499	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.25686670721265E-4	0.06
18	59928732	C	T	18	62261499	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.74614312417407E-5	0.094
18	59928733	T	A	18	62261500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.980466822091887	0.742
18	59928733	T	C	18	62261500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.120871948934598	0.228
18	59928733	T	G	18	62261500	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.966649364603728	0.64
18	59928734	T	A	18	62261501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99660931204676	0.838
18	59928734	T	C	18	62261501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0760328631067862	0.32
18	59928734	T	G	18	62261501	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996555759684752	0.896
18	59928735	A	C	18	62261502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0154666928798032	0.242
18	59928735	A	G	18	62261502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0138214186366666	0.158
18	59928735	A	T	18	62261502	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0126660277696214	0.212
18	59928736	T	A	18	62261503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999622917526833	0.97
18	59928736	T	C	18	62261503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0024906547218312	0.01
18	59928736	T	G	18	62261503	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999678861222839	0.972
18	59928737	G	A	18	62261504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.06107706774972E-4	0.034
18	59928737	G	C	18	62261504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.42709965765034E-4	0.01
18	59928737	G	T	18	62261504	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.58293782291445E-5	0.004
18	59928738	T	A	18	62261505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.666755417399215	0.71
18	59928738	T	C	18	62261505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.68717323345928E-4	0.074
18	59928738	T	G	18	62261505	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.847789040873725	0.744
18	59928739	T	A	18	62261506	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997162845208303	0.906
18	59928739	T	C	18	62261506	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.161908746789875	0.368
18	59928739	T	G	18	62261506	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996500417476332	0.874
18	59928740	T	A	18	62261507	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.11519195555451E-4	0.006
18	59928740	T	C	18	62261507	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.52900134050003E-4	0.006
18	59928740	T	G	18	62261507	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.59095139995819E-4	0.014
18	59928741	C	A	18	62261508	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.986281024766498	0.834
18	59928741	C	G	18	62261508	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999550855861794	0.948
18	59928741	C	T	18	62261508	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.269389327616686	0.214
18	59928742	A	C	18	62261509	y	y	splicing	KIAA1468(NM_020854:exon16:c.2203-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2203-2A>C;ENST00000398130:exon16:c.2203-2A>C;ENST00000587725:exon16:c.2203-2A>C)	.	.	0.999992446697775	0.93
18	59928742	A	G	18	62261509	y	y	splicing	KIAA1468(NM_020854:exon16:c.2203-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2203-2A>G;ENST00000398130:exon16:c.2203-2A>G;ENST00000587725:exon16:c.2203-2A>G)	.	.	0.999992446697775	0.93
18	59928742	A	T	18	62261509	y	y	splicing	KIAA1468(NM_020854:exon16:c.2203-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2203-2A>T;ENST00000398130:exon16:c.2203-2A>T;ENST00000587725:exon16:c.2203-2A>T)	.	.	0.999992446697775	0.93
18	59928743	G	A	18	62261510	y	y	splicing	KIAA1468(NM_020854:exon16:c.2203-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2203-1G>A;ENST00000398130:exon16:c.2203-1G>A;ENST00000587725:exon16:c.2203-1G>A)	.	.	0.999988247793601	0.926
18	59928743	G	C	18	62261510	y	y	splicing	KIAA1468(NM_020854:exon16:c.2203-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2203-1G>C;ENST00000398130:exon16:c.2203-1G>C;ENST00000587725:exon16:c.2203-1G>C)	.	.	0.999988247793601	0.926
18	59928743	G	T	18	62261510	y	y	splicing	KIAA1468(NM_020854:exon16:c.2203-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2203-1G>T;ENST00000398130:exon16:c.2203-1G>T;ENST00000587725:exon16:c.2203-1G>T)	.	.	0.999988247793601	0.926
18	59928744	G	A	18	62261511	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.G2203A:p.E735K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.G2203A:p.E735K;ENSG00000134444:ENST00000587725:exon16:c.G2203A:p.E735K;ENSG00000134444:ENST00000256858:exon16:c.G2203A:p.E735K;	0.998181315798928	0.888
18	59928744	G	C	18	62261511	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.G2203C:p.E735Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.G2203C:p.E735Q;ENSG00000134444:ENST00000587725:exon16:c.G2203C:p.E735Q;ENSG00000134444:ENST00000256858:exon16:c.G2203C:p.E735Q;	0.993552300279919	0.886
18	59928744	G	T	18	62261511	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon16:c.G2203T:p.E735X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon16:c.G2203T:p.E735X;ENSG00000134444:ENST00000587725:exon16:c.G2203T:p.E735X;ENSG00000134444:ENST00000256858:exon16:c.G2203T:p.E735X;	0.9998423430271	0.952
18	59928745	A	C	18	62261512	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.A2204C:p.E735A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2204C:p.E735A;ENSG00000134444:ENST00000587725:exon16:c.A2204C:p.E735A;ENSG00000134444:ENST00000256858:exon16:c.A2204C:p.E735A;	0.847420822165101	0.702
18	59928745	A	G	18	62261512	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.A2204G:p.E735G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2204G:p.E735G;ENSG00000134444:ENST00000587725:exon16:c.A2204G:p.E735G;ENSG00000134444:ENST00000256858:exon16:c.A2204G:p.E735G;	0.735208429997304	0.428
18	59928745	A	T	18	62261512	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.A2204T:p.E735V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2204T:p.E735V;ENSG00000134444:ENST00000587725:exon16:c.A2204T:p.E735V;ENSG00000134444:ENST00000256858:exon16:c.A2204T:p.E735V;	0.780500694216144	0.7
18	59928889	A	C	18	62261656	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.A2348C:p.E783A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2348C:p.E783A;ENSG00000134444:ENST00000587725:exon16:c.A2348C:p.E783A;ENSG00000134444:ENST00000256858:exon16:c.A2348C:p.E783A;	0.910962086883732	0.742
18	59928889	A	G	18	62261656	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.A2348G:p.E783G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2348G:p.E783G;ENSG00000134444:ENST00000587725:exon16:c.A2348G:p.E783G;ENSG00000134444:ENST00000256858:exon16:c.A2348G:p.E783G;	0.967813578867464	0.534
18	59928889	A	T	18	62261656	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.A2348T:p.E783V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2348T:p.E783V;ENSG00000134444:ENST00000587725:exon16:c.A2348T:p.E783V;ENSG00000134444:ENST00000256858:exon16:c.A2348T:p.E783V;	0.999158891213348	0.904
18	59928890	A	C	18	62261657	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.A2349C:p.E783D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2349C:p.E783D;ENSG00000134444:ENST00000587725:exon16:c.A2349C:p.E783D;ENSG00000134444:ENST00000256858:exon16:c.A2349C:p.E783D;	0.99995104207152	0.998
18	59928890	A	G	18	62261657	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon16:c.A2349G:p.E783E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2349G:p.E783E;ENSG00000134444:ENST00000587725:exon16:c.A2349G:p.E783E;ENSG00000134444:ENST00000256858:exon16:c.A2349G:p.E783E;	0.999720167558456	0.962
18	59928890	A	T	18	62261657	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.A2349T:p.E783D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.A2349T:p.E783D;ENSG00000134444:ENST00000587725:exon16:c.A2349T:p.E783D;ENSG00000134444:ENST00000256858:exon16:c.A2349T:p.E783D;	0.999965229426247	1.0
18	59928891	G	A	18	62261658	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.G2350A:p.V784M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.G2350A:p.V784M;ENSG00000134444:ENST00000587725:exon16:c.G2350A:p.V784M;ENSG00000134444:ENST00000256858:exon16:c.G2350A:p.V784M;	0.999994372513321	1.0
18	59928891	G	C	18	62261658	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.G2350C:p.V784L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.G2350C:p.V784L;ENSG00000134444:ENST00000587725:exon16:c.G2350C:p.V784L;ENSG00000134444:ENST00000256858:exon16:c.G2350C:p.V784L;	0.999997120356061	1.0
18	59928891	G	T	18	62261658	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon16:c.G2350T:p.V784L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon16:c.G2350T:p.V784L;ENSG00000134444:ENST00000587725:exon16:c.G2350T:p.V784L;ENSG00000134444:ENST00000256858:exon16:c.G2350T:p.V784L;	0.999991945276243	1.0
18	59928892	G	A	18	62261659	y	y	splicing	KIAA1468(NM_020854:exon16:c.2350+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2350+1G>A;ENST00000398130:exon16:c.2350+1G>A;ENST00000587725:exon16:c.2350+1G>A;ENST00000588446:exon1:c.48+1G>A)	.	.	0.999990361384395	0.942
18	59928892	G	C	18	62261659	y	y	splicing	KIAA1468(NM_020854:exon16:c.2350+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2350+1G>C;ENST00000398130:exon16:c.2350+1G>C;ENST00000587725:exon16:c.2350+1G>C;ENST00000588446:exon1:c.48+1G>C)	.	.	0.999990361384395	0.942
18	59928892	G	T	18	62261659	y	y	splicing	KIAA1468(NM_020854:exon16:c.2350+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2350+1G>T;ENST00000398130:exon16:c.2350+1G>T;ENST00000587725:exon16:c.2350+1G>T;ENST00000588446:exon1:c.48+1G>T)	.	.	0.999990361384395	0.942
18	59928893	T	A	18	62261660	y	y	splicing	KIAA1468(NM_020854:exon16:c.2350+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2350+2T>A;ENST00000398130:exon16:c.2350+2T>A;ENST00000587725:exon16:c.2350+2T>A;ENST00000588446:exon1:c.48+2T>A)	.	.	0.999988247793601	0.944
18	59928893	T	C	18	62261660	y	y	splicing	KIAA1468(NM_020854:exon16:c.2350+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2350+2T>C;ENST00000398130:exon16:c.2350+2T>C;ENST00000587725:exon16:c.2350+2T>C;ENST00000588446:exon1:c.48+2T>C)	.	.	0.995320650369382	0.712
18	59928893	T	G	18	62261660	y	y	splicing	KIAA1468(NM_020854:exon16:c.2350+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon16:c.2350+2T>G;ENST00000398130:exon16:c.2350+2T>G;ENST00000587725:exon16:c.2350+2T>G;ENST00000588446:exon1:c.48+2T>G)	.	.	0.999988247793601	0.944
18	59928894	A	C	18	62261661	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999910517111403	0.968
18	59928894	A	G	18	62261661	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999133483121261	0.966
18	59928894	A	T	18	62261661	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999738797523853	0.916
18	59928895	C	A	18	62261662	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.2065383751962E-4	0.094
18	59928895	C	G	18	62261662	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00145508977643959	0.116
18	59928895	C	T	18	62261662	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.89569467564538E-4	0.058
18	59928896	T	A	18	62261663	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.74574876822707E-5	0.02
18	59928896	T	C	18	62261663	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.96019197681094E-5	0.01
18	59928896	T	G	18	62261663	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.21915999432525E-5	0.002
18	59928897	G	A	18	62261664	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.7204524526333E-4	0.056
18	59928897	G	C	18	62261664	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.86724857480515E-4	0.07
18	59928897	G	T	18	62261664	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.75077999002126E-5	0.05
18	59928898	A	C	18	62261665	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.83277102901073E-5	0.0
18	59928898	A	G	18	62261665	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.12650773005937E-5	0.0
18	59928898	A	T	18	62261665	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.12650773005937E-5	0.0
18	59928899	A	C	18	62261666	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00382117609820675	0.032
18	59928899	A	G	18	62261666	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00440883199679489	0.034
18	59928899	A	T	18	62261666	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00424481213661068	0.04
18	59931210	T	A	18	62263977	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.987883937547112	0.848
18	59931210	T	C	18	62263977	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00508901208471623	0.092
18	59931210	T	G	18	62263977	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.976055625489558	0.762
18	59931211	T	A	18	62263978	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.707302375388654	0.666
18	59931211	T	C	18	62263978	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.53932058885193E-4	0.122
18	59931211	T	G	18	62263978	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.516927137224167	0.732
18	59931212	T	A	18	62263979	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.849839485579443	0.518
18	59931212	T	C	18	62263979	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.54509723459527E-4	0.112
18	59931212	T	G	18	62263979	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.608667848931361	0.468
18	59931213	T	A	18	62263980	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998818566731181	0.79
18	59931213	T	C	18	62263980	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.306110649611184	0.398
18	59931213	T	G	18	62263980	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999468091939079	0.91
18	59931214	A	C	18	62263981	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.33184233191626E-4	0.01
18	59931214	A	G	18	62263981	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.18218940628273E-4	0.006
18	59931214	A	T	18	62263981	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.1918105340119E-5	0.006
18	59931215	T	A	18	62263982	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999913899367892	0.974
18	59931215	T	C	18	62263982	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00245958903507694	0.132
18	59931215	T	G	18	62263982	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999945131488333	0.974
18	59931216	G	A	18	62263983	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.89906649829017E-4	0.002
18	59931216	G	C	18	62263983	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.89108145832845E-5	0.002
18	59931216	G	T	18	62263983	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.93569750638778E-5	0.004
18	59931217	T	A	18	62263984	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999317507281457	0.968
18	59931217	T	C	18	62263984	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0237421709201726	0.204
18	59931217	T	G	18	62263984	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.980791307182126	0.804
18	59931218	G	A	18	62263985	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.27303467933406E-4	0.082
18	59931218	G	C	18	62263985	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.60280811770619E-5	0.076
18	59931218	G	T	18	62263985	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.99358489241798E-5	0.064
18	59931219	T	A	18	62263986	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.321210892817807	0.406
18	59931219	T	C	18	62263986	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.29641731347344E-5	0.004
18	59931219	T	G	18	62263986	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.991271164231839	0.732
18	59931220	A	C	18	62263987	y	y	splicing	KIAA1468(NM_020854:exon17:c.2351-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2351-2A>C;ENST00000398130:exon17:c.2351-2A>C;ENST00000587725:exon17:c.2351-2A>C;ENST00000588446:exon2:c.49-2A>C)	.	.	0.999988247793601	0.95
18	59931220	A	G	18	62263987	y	y	splicing	KIAA1468(NM_020854:exon17:c.2351-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2351-2A>G;ENST00000398130:exon17:c.2351-2A>G;ENST00000587725:exon17:c.2351-2A>G;ENST00000588446:exon2:c.49-2A>G)	.	.	0.999988247793601	0.95
18	59931220	A	T	18	62263987	y	y	splicing	KIAA1468(NM_020854:exon17:c.2351-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2351-2A>T;ENST00000398130:exon17:c.2351-2A>T;ENST00000587725:exon17:c.2351-2A>T;ENST00000588446:exon2:c.49-2A>T)	.	.	0.999988247793601	0.95
18	59931221	G	A	18	62263988	y	y	splicing	KIAA1468(NM_020854:exon17:c.2351-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2351-1G>A;ENST00000398130:exon17:c.2351-1G>A;ENST00000587725:exon17:c.2351-1G>A;ENST00000588446:exon2:c.49-1G>A)	.	.	0.999990361384395	0.948
18	59931221	G	C	18	62263988	y	y	splicing	KIAA1468(NM_020854:exon17:c.2351-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2351-1G>C;ENST00000398130:exon17:c.2351-1G>C;ENST00000587725:exon17:c.2351-1G>C;ENST00000588446:exon2:c.49-1G>C)	.	.	0.999990361384395	0.948
18	59931221	G	T	18	62263988	y	y	splicing	KIAA1468(NM_020854:exon17:c.2351-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2351-1G>T;ENST00000398130:exon17:c.2351-1G>T;ENST00000587725:exon17:c.2351-1G>T;ENST00000588446:exon2:c.49-1G>T)	.	.	0.999990361384395	0.948
18	59931222	T	A	18	62263989	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.T2351A:p.V784E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.T2351A:p.V784E;ENSG00000134444:ENST00000587725:exon17:c.T2351A:p.V784E;ENSG00000134444:ENST00000256858:exon17:c.T2351A:p.V784E;	4.27724632165857E-4	0.02
18	59931222	T	C	18	62263989	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.T2351C:p.V784A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.T2351C:p.V784A;ENSG00000134444:ENST00000587725:exon17:c.T2351C:p.V784A;ENSG00000134444:ENST00000256858:exon17:c.T2351C:p.V784A;	0.00340787390138332	0.062
18	59931222	T	G	18	62263989	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.T2351G:p.V784G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.T2351G:p.V784G;ENSG00000134444:ENST00000587725:exon17:c.T2351G:p.V784G;ENSG00000134444:ENST00000256858:exon17:c.T2351G:p.V784G;	0.122135042127146	0.282
18	59931223	G	A	18	62263990	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon17:c.G2352A:p.V784V;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.G2352A:p.V784V;ENSG00000134444:ENST00000587725:exon17:c.G2352A:p.V784V;ENSG00000134444:ENST00000256858:exon17:c.G2352A:p.V784V;	1.21237655259974E-4	0.034
18	59931223	G	C	18	62263990	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon17:c.G2352C:p.V784V;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.G2352C:p.V784V;ENSG00000134444:ENST00000587725:exon17:c.G2352C:p.V784V;ENSG00000134444:ENST00000256858:exon17:c.G2352C:p.V784V;	1.15569982147645E-4	0.018
18	59931223	G	T	18	62263990	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon17:c.G2352T:p.V784V;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.G2352T:p.V784V;ENSG00000134444:ENST00000587725:exon17:c.G2352T:p.V784V;ENSG00000134444:ENST00000256858:exon17:c.G2352T:p.V784V;	4.93792374158939E-5	0.004
18	59931376	A	C	18	62264143	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.A2505C:p.Q835H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.A2505C:p.Q835H;ENSG00000134444:ENST00000587725:exon17:c.A2505C:p.Q835H;ENSG00000134444:ENST00000256858:exon17:c.A2505C:p.Q835H;	6.24997378030658E-5	0.112
18	59931376	A	G	18	62264143	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon17:c.A2505G:p.Q835Q;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.A2505G:p.Q835Q;ENSG00000134444:ENST00000587725:exon17:c.A2505G:p.Q835Q;ENSG00000134444:ENST00000256858:exon17:c.A2505G:p.Q835Q;	6.08075487771146E-5	0.0
18	59931376	A	T	18	62264143	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.A2505T:p.Q835H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.A2505T:p.Q835H;ENSG00000134444:ENST00000587725:exon17:c.A2505T:p.Q835H;ENSG00000134444:ENST00000256858:exon17:c.A2505T:p.Q835H;	0.060133081642768	0.314
18	59931377	T	A	18	62264144	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.T2506A:p.L836M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.T2506A:p.L836M;ENSG00000134444:ENST00000587725:exon17:c.T2506A:p.L836M;ENSG00000134444:ENST00000256858:exon17:c.T2506A:p.L836M;	8.45736130555977E-5	0.08
18	59931377	T	C	18	62264144	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon17:c.T2506C:p.L836L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.T2506C:p.L836L;ENSG00000134444:ENST00000587725:exon17:c.T2506C:p.L836L;ENSG00000134444:ENST00000256858:exon17:c.T2506C:p.L836L;	1.38022924016992E-4	0.024
18	59931377	T	G	18	62264144	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.T2506G:p.L836V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.T2506G:p.L836V;ENSG00000134444:ENST00000587725:exon17:c.T2506G:p.L836V;ENSG00000134444:ENST00000256858:exon17:c.T2506G:p.L836V;	0.00302536021242749	0.106
18	59931378	T	A	18	62264145	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon17:c.T2507A:p.L836X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon17:c.T2507A:p.L836X;ENSG00000134444:ENST00000587725:exon17:c.T2507A:p.L836X;ENSG00000134444:ENST00000256858:exon17:c.T2507A:p.L836X;	0.863867274716449	0.814
18	59931378	T	C	18	62264145	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.T2507C:p.L836S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.T2507C:p.L836S;ENSG00000134444:ENST00000587725:exon17:c.T2507C:p.L836S;ENSG00000134444:ENST00000256858:exon17:c.T2507C:p.L836S;	0.951011359825914	0.844
18	59931378	T	G	18	62264145	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon17:c.T2507G:p.L836W;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon17:c.T2507G:p.L836W;ENSG00000134444:ENST00000587725:exon17:c.T2507G:p.L836W;ENSG00000134444:ENST00000256858:exon17:c.T2507G:p.L836W;	0.313053967711915	0.286
18	59931379	G	A	18	62264146	y	y	splicing	KIAA1468(NM_020854:exon17:c.2507+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2507+1G>A;ENST00000398130:exon17:c.2507+1G>A;ENST00000587725:exon17:c.2507+1G>A;ENST00000588446:exon2:c.205+1G>A)	.	.	0.999986675681007	0.932
18	59931379	G	C	18	62264146	y	y	splicing	KIAA1468(NM_020854:exon17:c.2507+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2507+1G>C;ENST00000398130:exon17:c.2507+1G>C;ENST00000587725:exon17:c.2507+1G>C;ENST00000588446:exon2:c.205+1G>C)	.	.	0.999986675681007	0.932
18	59931379	G	T	18	62264146	y	y	splicing	KIAA1468(NM_020854:exon17:c.2507+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2507+1G>T;ENST00000398130:exon17:c.2507+1G>T;ENST00000587725:exon17:c.2507+1G>T;ENST00000588446:exon2:c.205+1G>T)	.	.	0.999986675681007	0.932
18	59931380	T	A	18	62264147	y	y	splicing	KIAA1468(NM_020854:exon17:c.2507+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2507+2T>A;ENST00000398130:exon17:c.2507+2T>A;ENST00000587725:exon17:c.2507+2T>A;ENST00000588446:exon2:c.205+2T>A)	.	.	0.999988247793601	0.928
18	59931380	T	C	18	62264147	y	y	splicing	KIAA1468(NM_020854:exon17:c.2507+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2507+2T>C;ENST00000398130:exon17:c.2507+2T>C;ENST00000587725:exon17:c.2507+2T>C;ENST00000588446:exon2:c.205+2T>C)	.	.	0.994669226766359	0.66
18	59931380	T	G	18	62264147	y	y	splicing	KIAA1468(NM_020854:exon17:c.2507+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon17:c.2507+2T>G;ENST00000398130:exon17:c.2507+2T>G;ENST00000587725:exon17:c.2507+2T>G;ENST00000588446:exon2:c.205+2T>G)	.	.	0.999988247793601	0.928
18	59931381	A	C	18	62264148	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999506720020978	0.842
18	59931381	A	G	18	62264148	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.258970212357989	0.43
18	59931381	A	T	18	62264148	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99946608622908	0.774
18	59931382	A	C	18	62264149	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999277764678508	0.938
18	59931382	A	G	18	62264149	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998522155571246	0.968
18	59931382	A	T	18	62264149	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998584958900894	0.95
18	59931383	G	A	18	62264150	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999962609374754	0.998
18	59931383	G	C	18	62264150	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999985035293351	0.924
18	59931383	G	T	18	62264150	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999964667335701	0.986
18	59931384	T	A	18	62264151	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993942166223343	0.75
18	59931384	T	C	18	62264151	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.988232644708454	0.826
18	59931384	T	G	18	62264151	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996592358520404	0.838
18	59931385	T	A	18	62264152	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00322362459834315	0.006
18	59931385	T	C	18	62264152	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00419159743034745	0.0
18	59931385	T	G	18	62264152	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00408320717468591	0.0
18	59931386	A	C	18	62264153	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.78389654127837E-5	0.0
18	59931386	A	G	18	62264153	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.29685774363748E-4	0.0
18	59931386	A	T	18	62264153	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.78389654127837E-5	0.0
18	59931950	T	A	18	62264717	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.25727028566484	0.428
18	59931950	T	C	18	62264717	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.64930409935168E-4	0.018
18	59931950	T	G	18	62264717	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.116461024674505	0.348
18	59931951	T	A	18	62264718	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.966631719361291	0.714
18	59931951	T	C	18	62264718	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0651246825627636	0.146
18	59931951	T	G	18	62264718	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.692108800152711	0.54
18	59931952	T	A	18	62264719	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998426954290197	0.914
18	59931952	T	C	18	62264719	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.259465066031643	0.438
18	59931952	T	G	18	62264719	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995589251587659	0.846
18	59931953	C	A	18	62264720	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.917985371156041	0.654
18	59931953	C	G	18	62264720	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.882867984249677	0.632
18	59931953	C	T	18	62264720	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.936765308890556	0.694
18	59931954	A	C	18	62264721	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.13027667635288E-4	0.002
18	59931954	A	G	18	62264721	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.52879822941447E-4	0.004
18	59931954	A	T	18	62264721	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.58513282622872E-5	0.0
18	59931955	T	A	18	62264722	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00240301754612354	0.164
18	59931955	T	C	18	62264722	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.93127683400866E-5	0.07
18	59931955	T	G	18	62264722	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.992830082137411	0.898
18	59931956	A	C	18	62264723	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.71274929694256E-4	0.018
18	59931956	A	G	18	62264723	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.06107806059287E-4	0.024
18	59931956	A	T	18	62264723	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.19428137056838E-5	0.002
18	59931957	T	A	18	62264724	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.981245766132156	0.796
18	59931957	T	C	18	62264724	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0794392458757521	0.212
18	59931957	T	G	18	62264724	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999884229868574	0.912
18	59931958	T	A	18	62264725	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0170787876626115	0.078
18	59931958	T	C	18	62264725	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00472556199046606	0.038
18	59931958	T	G	18	62264725	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00950440042781239	0.026
18	59931959	C	A	18	62264726	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.83539384533739	0.58
18	59931959	C	G	18	62264726	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999645687361439	0.956
18	59931959	C	T	18	62264726	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0142662046827335	0.074
18	59931960	A	C	18	62264727	y	y	splicing	KIAA1468(NM_020854:exon18:c.2508-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2508-2A>C;ENST00000398130:exon18:c.2508-2A>C;ENST00000587725:exon18:c.2508-2A>C;ENST00000588446:exon3:c.206-2A>C)	.	.	0.999988247793601	0.93
18	59931960	A	G	18	62264727	y	y	splicing	KIAA1468(NM_020854:exon18:c.2508-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2508-2A>G;ENST00000398130:exon18:c.2508-2A>G;ENST00000587725:exon18:c.2508-2A>G;ENST00000588446:exon3:c.206-2A>G)	.	.	0.999988247793601	0.93
18	59931960	A	T	18	62264727	y	y	splicing	KIAA1468(NM_020854:exon18:c.2508-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2508-2A>T;ENST00000398130:exon18:c.2508-2A>T;ENST00000587725:exon18:c.2508-2A>T;ENST00000588446:exon3:c.206-2A>T)	.	.	0.999988247793601	0.93
18	59931961	G	A	18	62264728	y	y	splicing	KIAA1468(NM_020854:exon18:c.2508-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2508-1G>A;ENST00000398130:exon18:c.2508-1G>A;ENST00000587725:exon18:c.2508-1G>A;ENST00000588446:exon3:c.206-1G>A)	.	.	0.999985532734767	0.938
18	59931961	G	C	18	62264728	y	y	splicing	KIAA1468(NM_020854:exon18:c.2508-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2508-1G>C;ENST00000398130:exon18:c.2508-1G>C;ENST00000587725:exon18:c.2508-1G>C;ENST00000588446:exon3:c.206-1G>C)	.	.	0.999985532734767	0.938
18	59931961	G	T	18	62264728	y	y	splicing	KIAA1468(NM_020854:exon18:c.2508-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2508-1G>T;ENST00000398130:exon18:c.2508-1G>T;ENST00000587725:exon18:c.2508-1G>T;ENST00000588446:exon3:c.206-1G>T)	.	.	0.999985532734767	0.938
18	59931962	G	A	18	62264729	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon18:c.G2508A:p.L836L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.G2508A:p.L836L;ENSG00000134444:ENST00000587725:exon18:c.G2508A:p.L836L;ENSG00000134444:ENST00000256858:exon18:c.G2508A:p.L836L;	0.575825869688977	0.55
18	59931962	G	C	18	62264729	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.G2508C:p.L836F;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.G2508C:p.L836F;ENSG00000134444:ENST00000587725:exon18:c.G2508C:p.L836F;ENSG00000134444:ENST00000256858:exon18:c.G2508C:p.L836F;	0.731732749465125	0.528
18	59931962	G	T	18	62264729	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.G2508T:p.L836F;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.G2508T:p.L836F;ENSG00000134444:ENST00000587725:exon18:c.G2508T:p.L836F;ENSG00000134444:ENST00000256858:exon18:c.G2508T:p.L836F;	0.865553889312531	0.532
18	59931963	T	A	18	62264730	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.T2509A:p.L837M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.T2509A:p.L837M;ENSG00000134444:ENST00000587725:exon18:c.T2509A:p.L837M;ENSG00000134444:ENST00000256858:exon18:c.T2509A:p.L837M;	0.206898533242947	0.452
18	59931963	T	C	18	62264730	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon18:c.T2509C:p.L837L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.T2509C:p.L837L;ENSG00000134444:ENST00000587725:exon18:c.T2509C:p.L837L;ENSG00000134444:ENST00000256858:exon18:c.T2509C:p.L837L;	0.00642690897645515	0.132
18	59931963	T	G	18	62264730	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.T2509G:p.L837V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.T2509G:p.L837V;ENSG00000134444:ENST00000587725:exon18:c.T2509G:p.L837V;ENSG00000134444:ENST00000256858:exon18:c.T2509G:p.L837V;	0.00100964035142473	0.022
18	59932083	A	C	18	62264850	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.A2629C:p.K877Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.A2629C:p.K877Q;ENSG00000134444:ENST00000587725:exon18:c.A2629C:p.K877Q;ENSG00000134444:ENST00000256858:exon18:c.A2629C:p.K877Q;	0.702085836938339	0.69
18	59932083	A	G	18	62264850	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.A2629G:p.K877E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.A2629G:p.K877E;ENSG00000134444:ENST00000587725:exon18:c.A2629G:p.K877E;ENSG00000134444:ENST00000256858:exon18:c.A2629G:p.K877E;	0.347269908930302	0.554
18	59932083	A	T	18	62264850	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon18:c.A2629T:p.K877X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon18:c.A2629T:p.K877X;ENSG00000134444:ENST00000587725:exon18:c.A2629T:p.K877X;ENSG00000134444:ENST00000256858:exon18:c.A2629T:p.K877X;	0.994851107630013	0.808
18	59932084	A	C	18	62264851	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.A2630C:p.K877T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.A2630C:p.K877T;ENSG00000134444:ENST00000587725:exon18:c.A2630C:p.K877T;ENSG00000134444:ENST00000256858:exon18:c.A2630C:p.K877T;	0.994915894142896	0.87
18	59932084	A	G	18	62264851	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.A2630G:p.K877R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.A2630G:p.K877R;ENSG00000134444:ENST00000587725:exon18:c.A2630G:p.K877R;ENSG00000134444:ENST00000256858:exon18:c.A2630G:p.K877R;	0.999045895794686	0.96
18	59932084	A	T	18	62264851	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.A2630T:p.K877M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.A2630T:p.K877M;ENSG00000134444:ENST00000587725:exon18:c.A2630T:p.K877M;ENSG00000134444:ENST00000256858:exon18:c.A2630T:p.K877M;	0.998603097050758	0.952
18	59932085	G	A	18	62264852	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon18:c.G2631A:p.K877K;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.G2631A:p.K877K;ENSG00000134444:ENST00000587725:exon18:c.G2631A:p.K877K;ENSG00000134444:ENST00000256858:exon18:c.G2631A:p.K877K;	0.999980254478702	1.0
18	59932085	G	C	18	62264852	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.G2631C:p.K877N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.G2631C:p.K877N;ENSG00000134444:ENST00000587725:exon18:c.G2631C:p.K877N;ENSG00000134444:ENST00000256858:exon18:c.G2631C:p.K877N;	0.9999981677847	0.998
18	59932085	G	T	18	62264852	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon18:c.G2631T:p.K877N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon18:c.G2631T:p.K877N;ENSG00000134444:ENST00000587725:exon18:c.G2631T:p.K877N;ENSG00000134444:ENST00000256858:exon18:c.G2631T:p.K877N;	0.99999006121748	0.998
18	59932086	G	A	18	62264853	y	y	splicing	KIAA1468(NM_020854:exon18:c.2631+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2631+1G>A;ENST00000398130:exon18:c.2631+1G>A;ENST00000587725:exon18:c.2631+1G>A;ENST00000588446:exon3:c.329+1G>A)	.	.	0.999985532734767	0.938
18	59932086	G	C	18	62264853	y	y	splicing	KIAA1468(NM_020854:exon18:c.2631+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2631+1G>C;ENST00000398130:exon18:c.2631+1G>C;ENST00000587725:exon18:c.2631+1G>C;ENST00000588446:exon3:c.329+1G>C)	.	.	0.999985532734767	0.938
18	59932086	G	T	18	62264853	y	y	splicing	KIAA1468(NM_020854:exon18:c.2631+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2631+1G>T;ENST00000398130:exon18:c.2631+1G>T;ENST00000587725:exon18:c.2631+1G>T;ENST00000588446:exon3:c.329+1G>T)	.	.	0.999985532734767	0.938
18	59932087	T	A	18	62264854	y	y	splicing	KIAA1468(NM_020854:exon18:c.2631+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2631+2T>A;ENST00000398130:exon18:c.2631+2T>A;ENST00000587725:exon18:c.2631+2T>A;ENST00000588446:exon3:c.329+2T>A)	.	.	0.999988247793601	0.93
18	59932087	T	C	18	62264854	y	y	splicing	KIAA1468(NM_020854:exon18:c.2631+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2631+2T>C;ENST00000398130:exon18:c.2631+2T>C;ENST00000587725:exon18:c.2631+2T>C;ENST00000588446:exon3:c.329+2T>C)	.	.	0.992577803696025	0.694
18	59932087	T	G	18	62264854	y	y	splicing	KIAA1468(NM_020854:exon18:c.2631+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon18:c.2631+2T>G;ENST00000398130:exon18:c.2631+2T>G;ENST00000587725:exon18:c.2631+2T>G;ENST00000588446:exon3:c.329+2T>G)	.	.	0.999988247793601	0.93
18	59932088	A	C	18	62264855	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999910565694526	0.97
18	59932088	A	G	18	62264855	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999158163084051	0.926
18	59932088	A	T	18	62264855	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999783574689204	0.948
18	59932089	A	C	18	62264856	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995868914957258	0.842
18	59932089	A	G	18	62264856	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996590492835764	0.838
18	59932089	A	T	18	62264856	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998223665898458	0.886
18	59932090	A	C	18	62264857	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.82490391010315E-4	0.038
18	59932090	A	G	18	62264857	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.35952476667616E-4	0.03
18	59932090	A	T	18	62264857	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.65809938591313E-4	0.028
18	59932091	A	C	18	62264858	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00225984419936516	0.062
18	59932091	A	G	18	62264858	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.61264841562825E-4	0.002
18	59932091	A	T	18	62264858	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.87805128162793E-5	0.004
18	59932092	A	C	18	62264859	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.78380969718112E-4	0.006
18	59932092	A	G	18	62264859	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.0185427091745E-4	0.006
18	59932092	A	T	18	62264859	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.97370549218635E-4	0.032
18	59932093	C	A	18	62264860	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.01298255262944E-4	0.002
18	59932093	C	G	18	62264860	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.34980455023147E-5	0.006
18	59932093	C	T	18	62264860	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.01298255262944E-4	0.004
18	59933922	T	A	18	62266689	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999989175540808	0.956
18	59933922	T	C	18	62266689	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.118399782171014	0.412
18	59933922	T	G	18	62266689	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99851526366238	0.884
18	59933923	G	A	18	62266690	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999957631798662	0.926
18	59933923	G	C	18	62266690	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.841713586572418	0.59
18	59933923	G	T	18	62266690	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.926848928217447	0.524
18	59933924	G	A	18	62266691	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996793176346912	0.972
18	59933924	G	C	18	62266691	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.3796506007208E-5	0.05
18	59933924	G	T	18	62266691	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.23052755840022E-4	0.06
18	59933925	G	A	18	62266692	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.56858702789038E-4	0.008
18	59933925	G	C	18	62266692	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.01563028118584E-4	0.008
18	59933925	G	T	18	62266692	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.86499872278658E-5	0.046
18	59933926	T	A	18	62266693	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.687588802596841	0.48
18	59933926	T	C	18	62266693	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.81790372040038E-4	0.022
18	59933926	T	G	18	62266693	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00460088971268831	0.142
18	59933927	T	A	18	62266694	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999943209237638	0.968
18	59933927	T	C	18	62266694	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00339114926031629	0.068
18	59933927	T	G	18	62266694	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.680514689977672	0.394
18	59933928	G	A	18	62266695	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.79165726839725E-5	0.002
18	59933928	G	C	18	62266695	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.08089959857404E-4	0.13
18	59933928	G	T	18	62266695	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.43399777864272E-4	0.034
18	59933929	C	A	18	62266696	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00222236045867906	0.08
18	59933929	C	G	18	62266696	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00132494506585119	0.126
18	59933929	C	T	18	62266696	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.41441436386296E-4	0.0
18	59933930	T	A	18	62266697	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.023292993529483	0.068
18	59933930	T	C	18	62266697	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00184042534472762	0.028
18	59933930	T	G	18	62266697	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0187954833224373	0.032
18	59933931	T	A	18	62266698	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.14029525973258	0.456
18	59933931	T	C	18	62266698	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.63756148155868E-4	0.034
18	59933931	T	G	18	62266698	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998298329554835	0.774
18	59933932	A	C	18	62266699	y	y	splicing	KIAA1468(NM_020854:exon19:c.2632-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2632-2A>C;ENST00000398130:exon19:c.2632-2A>C;ENST00000587725:exon19:c.2632-2A>C;ENST00000588446:exon4:c.330-2A>C)	.	.	0.999989917668626	0.928
18	59933932	A	G	18	62266699	y	y	splicing	KIAA1468(NM_020854:exon19:c.2632-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2632-2A>G;ENST00000398130:exon19:c.2632-2A>G;ENST00000587725:exon19:c.2632-2A>G;ENST00000588446:exon4:c.330-2A>G)	.	.	0.999989917668626	0.928
18	59933932	A	T	18	62266699	y	y	splicing	KIAA1468(NM_020854:exon19:c.2632-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2632-2A>T;ENST00000398130:exon19:c.2632-2A>T;ENST00000587725:exon19:c.2632-2A>T;ENST00000588446:exon4:c.330-2A>T)	.	.	0.999989917668626	0.928
18	59933933	G	A	18	62266700	y	y	splicing	KIAA1468(NM_020854:exon19:c.2632-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2632-1G>A;ENST00000398130:exon19:c.2632-1G>A;ENST00000587725:exon19:c.2632-1G>A;ENST00000588446:exon4:c.330-1G>A)	.	.	0.999986675681007	0.934
18	59933933	G	C	18	62266700	y	y	splicing	KIAA1468(NM_020854:exon19:c.2632-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2632-1G>C;ENST00000398130:exon19:c.2632-1G>C;ENST00000587725:exon19:c.2632-1G>C;ENST00000588446:exon4:c.330-1G>C)	.	.	0.999986675681007	0.934
18	59933933	G	T	18	62266700	y	y	splicing	KIAA1468(NM_020854:exon19:c.2632-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2632-1G>T;ENST00000398130:exon19:c.2632-1G>T;ENST00000587725:exon19:c.2632-1G>T;ENST00000588446:exon4:c.330-1G>T)	.	.	0.999986675681007	0.934
18	59933934	G	A	18	62266701	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.G2632A:p.V878I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.G2632A:p.V878I;ENSG00000134444:ENST00000587725:exon19:c.G2632A:p.V878I;ENSG00000134444:ENST00000256858:exon19:c.G2632A:p.V878I;	0.998615833723995	0.862
18	59933934	G	C	18	62266701	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.G2632C:p.V878L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.G2632C:p.V878L;ENSG00000134444:ENST00000587725:exon19:c.G2632C:p.V878L;ENSG00000134444:ENST00000256858:exon19:c.G2632C:p.V878L;	0.999818437083098	0.982
18	59933934	G	T	18	62266701	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.G2632T:p.V878L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.G2632T:p.V878L;ENSG00000134444:ENST00000587725:exon19:c.G2632T:p.V878L;ENSG00000134444:ENST00000256858:exon19:c.G2632T:p.V878L;	0.999912523733899	0.992
18	59933935	T	A	18	62266702	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.T2633A:p.V878E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2633A:p.V878E;ENSG00000134444:ENST00000587725:exon19:c.T2633A:p.V878E;ENSG00000134444:ENST00000256858:exon19:c.T2633A:p.V878E;	0.124999229539881	0.348
18	59933935	T	C	18	62266702	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.T2633C:p.V878A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2633C:p.V878A;ENSG00000134444:ENST00000587725:exon19:c.T2633C:p.V878A;ENSG00000134444:ENST00000256858:exon19:c.T2633C:p.V878A;	0.22418276281104	0.47
18	59933935	T	G	18	62266702	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.T2633G:p.V878G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2633G:p.V878G;ENSG00000134444:ENST00000587725:exon19:c.T2633G:p.V878G;ENSG00000134444:ENST00000256858:exon19:c.T2633G:p.V878G;	0.156992094319413	0.376
18	59933980	T	A	18	62266747	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.T2678A:p.I893N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2678A:p.I893N;ENSG00000134444:ENST00000587725:exon19:c.T2678A:p.I893N;ENSG00000134444:ENST00000256858:exon19:c.T2678A:p.I893N;	0.445666635320808	0.68
18	59933980	T	C	18	62266747	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.T2678C:p.I893T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2678C:p.I893T;ENSG00000134444:ENST00000587725:exon19:c.T2678C:p.I893T;ENSG00000134444:ENST00000256858:exon19:c.T2678C:p.I893T;	0.00174128901048732	0.018
18	59933980	T	G	18	62266747	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.T2678G:p.I893S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2678G:p.I893S;ENSG00000134444:ENST00000587725:exon19:c.T2678G:p.I893S;ENSG00000134444:ENST00000256858:exon19:c.T2678G:p.I893S;	0.450500338492599	0.448
18	59933981	T	A	18	62266748	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon19:c.T2679A:p.I893I;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2679A:p.I893I;ENSG00000134444:ENST00000587725:exon19:c.T2679A:p.I893I;ENSG00000134444:ENST00000256858:exon19:c.T2679A:p.I893I;	4.85108780160367E-4	0.144
18	59933981	T	C	18	62266748	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon19:c.T2679C:p.I893I;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2679C:p.I893I;ENSG00000134444:ENST00000587725:exon19:c.T2679C:p.I893I;ENSG00000134444:ENST00000256858:exon19:c.T2679C:p.I893I;	0.00700352586198288	0.05
18	59933981	T	G	18	62266748	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.T2679G:p.I893M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.T2679G:p.I893M;ENSG00000134444:ENST00000587725:exon19:c.T2679G:p.I893M;ENSG00000134444:ENST00000256858:exon19:c.T2679G:p.I893M;	0.0641004175286521	0.104
18	59933982	G	A	18	62266749	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.G2680A:p.D894N;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.G2680A:p.D894N;ENSG00000134444:ENST00000587725:exon19:c.G2680A:p.G894R;ENSG00000134444:ENST00000256858:exon19:c.G2680A:p.D894N;	0.999991658220094	1.0
18	59933982	G	C	18	62266749	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.G2680C:p.D894H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon19:c.G2680C:p.D894H;ENSG00000134444:ENST00000587725:exon19:c.G2680C:p.G894R;ENSG00000134444:ENST00000256858:exon19:c.G2680C:p.D894H;	0.999971974260439	0.956
18	59933982	G	T	18	62266749	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon19:c.G2680T:p.D894Y;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000587725:exon19:c.G2680T:p.G894X;	0.999987033119314	1.0
18	59933983	G	A	18	62266750	y	y	splicing	KIAA1468(NM_020854:exon19:c.2680+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2680+1G>A;ENST00000398130:exon19:c.2680+1G>A;ENST00000587725:exon19:c.2680+1G>A;ENST00000588446:exon4:c.378+1G>A)	.	.	0.999986675681007	0.934
18	59933983	G	C	18	62266750	y	y	splicing	KIAA1468(NM_020854:exon19:c.2680+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2680+1G>C;ENST00000398130:exon19:c.2680+1G>C;ENST00000587725:exon19:c.2680+1G>C;ENST00000588446:exon4:c.378+1G>C)	.	.	0.999986675681007	0.934
18	59933983	G	T	18	62266750	y	y	splicing	KIAA1468(NM_020854:exon19:c.2680+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2680+1G>T;ENST00000398130:exon19:c.2680+1G>T;ENST00000587725:exon19:c.2680+1G>T;ENST00000588446:exon4:c.378+1G>T)	.	.	0.999986675681007	0.934
18	59933984	T	A	18	62266751	y	y	splicing	KIAA1468(NM_020854:exon19:c.2680+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2680+2T>A;ENST00000398130:exon19:c.2680+2T>A;ENST00000587725:exon19:c.2680+2T>A;ENST00000588446:exon4:c.378+2T>A)	.	.	0.999989917668626	0.928
18	59933984	T	C	18	62266751	y	y	splicing	KIAA1468(NM_020854:exon19:c.2680+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2680+2T>C;ENST00000398130:exon19:c.2680+2T>C;ENST00000587725:exon19:c.2680+2T>C;ENST00000588446:exon4:c.378+2T>C)	.	.	0.999927254940125	0.852
18	59933984	T	G	18	62266751	y	y	splicing	KIAA1468(NM_020854:exon19:c.2680+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon19:c.2680+2T>G;ENST00000398130:exon19:c.2680+2T>G;ENST00000587725:exon19:c.2680+2T>G;ENST00000588446:exon4:c.378+2T>G)	.	.	0.999989917668626	0.926
18	59933985	G	A	18	62266752	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.08326665152581E-5	0.0
18	59933985	G	C	18	62266752	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.404616208808362	0.374
18	59933985	G	T	18	62266752	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.449826009659263	0.374
18	59933986	A	C	18	62266753	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.988071225838757	0.778
18	59933986	A	G	18	62266753	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.981039301355392	0.65
18	59933986	A	T	18	62266753	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995425398581985	0.726
18	59933987	G	A	18	62266754	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999973997200329	0.98
18	59933987	G	C	18	62266754	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999956965361298	0.938
18	59933987	G	T	18	62266754	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999983591719662	0.966
18	59933988	T	A	18	62266755	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.985681632009655	0.798
18	59933988	T	C	18	62266755	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.912262102951328	0.678
18	59933988	T	G	18	62266755	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.815658619798767	0.698
18	59933989	T	A	18	62266756	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.4327157807002E-4	0.006
18	59933989	T	C	18	62266756	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.31069118777885E-4	0.004
18	59933989	T	G	18	62266756	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.04477328277386E-4	0.004
18	59933990	T	A	18	62266757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.19041853812472E-4	0.002
18	59933990	T	C	18	62266757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.30341618217167E-4	0.002
18	59933990	T	G	18	62266757	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.78416389836785E-4	0.002
18	59936090	T	A	18	62268857	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998807887298197	0.934
18	59936090	T	C	18	62268857	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.893223818654059	0.434
18	59936090	T	G	18	62268857	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997963931673792	0.886
18	59936091	A	C	18	62268858	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.29513773029236E-4	0.002
18	59936091	A	G	18	62268858	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.53864734670601E-4	0.0
18	59936091	A	T	18	62268858	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.81838206738878E-4	0.12
18	59936092	A	C	18	62268859	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00320945945149258	0.034
18	59936092	A	G	18	62268859	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999602015218338	0.952
18	59936092	A	T	18	62268859	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00212234464700968	0.058
18	59936093	T	A	18	62268860	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.972387439863775	0.698
18	59936093	T	C	18	62268860	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00373442345648203	0.096
18	59936093	T	G	18	62268860	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999986742925238	0.976
18	59936094	A	C	18	62268861	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.21209745280272E-5	0.002
18	59936094	A	G	18	62268861	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.47379166421908E-4	0.01
18	59936094	A	T	18	62268861	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.26480193101316E-5	0.0
18	59936095	A	C	18	62268862	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.97161787099554E-4	0.03
18	59936095	A	G	18	62268862	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999366199364758	0.956
18	59936095	A	T	18	62268862	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.76294158877848E-4	0.008
18	59936096	T	A	18	62268863	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.992549883941079	0.814
18	59936096	T	C	18	62268863	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0161281702864737	0.18
18	59936096	T	G	18	62268863	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999971479043096	0.962
18	59936097	T	A	18	62268864	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999508745144205	0.9
18	59936097	T	C	18	62268864	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.551202367585431	0.42
18	59936097	T	G	18	62268864	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997660589850598	0.784
18	59936098	T	A	18	62268865	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.222448501050516	0.356
18	59936098	T	C	18	62268865	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00722012911052047	0.176
18	59936098	T	G	18	62268865	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0862503586418968	0.222
18	59936099	T	A	18	62268866	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.971065458624002	0.568
18	59936099	T	C	18	62268866	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.50155792590939E-5	0.08
18	59936099	T	G	18	62268866	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999441536743237	0.882
18	59936100	A	C	18	62268867	y	y	splicing	KIAA1468(NM_020854:exon20:c.2681-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2681-2A>C;ENST00000398130:exon20:c.2681-2A>C;ENST00000588446:exon5:c.379-2A>C)	.	.	0.999988247793601	0.954
18	59936100	A	G	18	62268867	y	y	splicing	KIAA1468(NM_020854:exon20:c.2681-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2681-2A>G;ENST00000398130:exon20:c.2681-2A>G;ENST00000588446:exon5:c.379-2A>G)	.	.	0.999988247793601	0.954
18	59936100	A	T	18	62268867	y	y	splicing	KIAA1468(NM_020854:exon20:c.2681-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2681-2A>T;ENST00000398130:exon20:c.2681-2A>T;ENST00000588446:exon5:c.379-2A>T)	.	.	0.999988247793601	0.954
18	59936101	G	A	18	62268868	y	y	splicing	KIAA1468(NM_020854:exon20:c.2681-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2681-1G>A;ENST00000398130:exon20:c.2681-1G>A;ENST00000588446:exon5:c.379-1G>A)	.	.	0.999990361384395	0.952
18	59936101	G	C	18	62268868	y	y	splicing	KIAA1468(NM_020854:exon20:c.2681-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2681-1G>C;ENST00000398130:exon20:c.2681-1G>C;ENST00000588446:exon5:c.379-1G>C)	.	.	0.999990361384395	0.952
18	59936101	G	T	18	62268868	y	y	splicing	KIAA1468(NM_020854:exon20:c.2681-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2681-1G>T;ENST00000398130:exon20:c.2681-1G>T;ENST00000588446:exon5:c.379-1G>T)	.	.	0.999990361384395	0.952
18	59936102	A	C	18	62268869	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.A2681C:p.D894A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.A2681C:p.D894A;ENSG00000134444:ENST00000256858:exon20:c.A2681C:p.D894A;	0.700564136995573	0.526
18	59936102	A	G	18	62268869	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.A2681G:p.D894G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.A2681G:p.D894G;ENSG00000134444:ENST00000256858:exon20:c.A2681G:p.D894G;	0.690132462300112	0.58
18	59936102	A	T	18	62268869	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.A2681T:p.D894V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.A2681T:p.D894V;ENSG00000134444:ENST00000256858:exon20:c.A2681T:p.D894V;	0.890597659586261	0.606
18	59936103	T	A	18	62268870	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.T2682A:p.D894E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.T2682A:p.D894E;ENSG00000134444:ENST00000256858:exon20:c.T2682A:p.D894E;	0.00191466730253583	0.088
18	59936103	T	C	18	62268870	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon20:c.T2682C:p.D894D;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.T2682C:p.D894D;ENSG00000134444:ENST00000256858:exon20:c.T2682C:p.D894D;	0.00302730688378078	0.11
18	59936103	T	G	18	62268870	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.T2682G:p.D894E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.T2682G:p.D894E;ENSG00000134444:ENST00000256858:exon20:c.T2682G:p.D894E;	7.19638619535173E-4	0.064
18	59936179	C	A	18	62268946	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.C2758A:p.Q920K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.C2758A:p.Q920K;ENSG00000134444:ENST00000587725:exon20:c.C2746A:p.Q916K;ENSG00000134444:ENST00000256858:exon20:c.C2758A:p.Q920K;	0.951293080796642	0.782
18	59936179	C	G	18	62268946	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.C2758G:p.Q920E;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.C2758G:p.Q920E;ENSG00000134444:ENST00000587725:exon20:c.C2746G:p.Q916E;ENSG00000134444:ENST00000256858:exon20:c.C2758G:p.Q920E;	0.919234105748862	0.626
18	59936179	C	T	18	62268946	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon20:c.C2758T:p.Q920X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon20:c.C2758T:p.Q920X;ENSG00000134444:ENST00000587725:exon20:c.C2746T:p.Q916X;ENSG00000134444:ENST00000256858:exon20:c.C2758T:p.Q920X;	0.998853986230212	0.784
18	59936180	A	C	18	62268947	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.A2759C:p.Q920P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.A2759C:p.Q920P;ENSG00000134444:ENST00000587725:exon20:c.A2747C:p.Q916P;ENSG00000134444:ENST00000256858:exon20:c.A2759C:p.Q920P;	0.994354064280984	0.808
18	59936180	A	G	18	62268947	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.A2759G:p.Q920R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.A2759G:p.Q920R;ENSG00000134444:ENST00000587725:exon20:c.A2747G:p.Q916R;ENSG00000134444:ENST00000256858:exon20:c.A2759G:p.Q920R;	0.993960006690905	0.91
18	59936180	A	T	18	62268947	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.A2759T:p.Q920L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.A2759T:p.Q920L;ENSG00000134444:ENST00000587725:exon20:c.A2747T:p.Q916L;ENSG00000134444:ENST00000256858:exon20:c.A2759T:p.Q920L;	0.988812773872499	0.536
18	59936181	G	A	18	62268948	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon20:c.G2760A:p.Q920Q;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.G2760A:p.Q920Q;ENSG00000134444:ENST00000587725:exon20:c.G2748A:p.Q916Q;ENSG00000134444:ENST00000256858:exon20:c.G2760A:p.Q920Q;	0.999117162015631	0.94
18	59936181	G	C	18	62268948	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.G2760C:p.Q920H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.G2760C:p.Q920H;ENSG00000134444:ENST00000587725:exon20:c.G2748C:p.Q916H;ENSG00000134444:ENST00000256858:exon20:c.G2760C:p.Q920H;	0.999977680374532	0.966
18	59936181	G	T	18	62268948	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon20:c.G2760T:p.Q920H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon20:c.G2760T:p.Q920H;ENSG00000134444:ENST00000587725:exon20:c.G2748T:p.Q916H;ENSG00000134444:ENST00000256858:exon20:c.G2760T:p.Q920H;	0.999829738097983	0.98
18	59936182	G	A	18	62268949	y	y	splicing	KIAA1468(NM_020854:exon20:c.2760+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2760+1G>A;ENST00000398130:exon20:c.2760+1G>A;ENST00000587725:exon20:c.2748+1G>A;ENST00000588446:exon5:c.458+1G>A)	.	.	0.999990361384395	0.938
18	59936182	G	C	18	62268949	y	y	splicing	KIAA1468(NM_020854:exon20:c.2760+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2760+1G>C;ENST00000398130:exon20:c.2760+1G>C;ENST00000587725:exon20:c.2748+1G>C;ENST00000588446:exon5:c.458+1G>C)	.	.	0.999990361384395	0.938
18	59936182	G	T	18	62268949	y	y	splicing	KIAA1468(NM_020854:exon20:c.2760+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2760+1G>T;ENST00000398130:exon20:c.2760+1G>T;ENST00000587725:exon20:c.2748+1G>T;ENST00000588446:exon5:c.458+1G>T)	.	.	0.999990361384395	0.938
18	59936183	T	A	18	62268950	y	y	splicing	KIAA1468(NM_020854:exon20:c.2760+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2760+2T>A;ENST00000398130:exon20:c.2760+2T>A;ENST00000587725:exon20:c.2748+2T>A;ENST00000588446:exon5:c.458+2T>A)	.	.	0.999988247793601	0.932
18	59936183	T	C	18	62268950	y	y	splicing	KIAA1468(NM_020854:exon20:c.2760+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2760+2T>C;ENST00000398130:exon20:c.2760+2T>C;ENST00000587725:exon20:c.2748+2T>C;ENST00000588446:exon5:c.458+2T>C)	.	.	0.99340600729494	0.702
18	59936183	T	G	18	62268950	y	y	splicing	KIAA1468(NM_020854:exon20:c.2760+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon20:c.2760+2T>G;ENST00000398130:exon20:c.2760+2T>G;ENST00000587725:exon20:c.2748+2T>G;ENST00000588446:exon5:c.458+2T>G)	.	.	0.999988247793601	0.932
18	59936184	A	C	18	62268951	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.956708615255981	0.766
18	59936184	A	G	18	62268951	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00477257320906397	0.058
18	59936184	A	T	18	62268951	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.873449495780966	0.712
18	59936185	A	C	18	62268952	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.822373162431077	0.606
18	59936185	A	G	18	62268952	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.969112195237697	0.648
18	59936185	A	T	18	62268952	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.934809156261201	0.666
18	59936186	G	A	18	62268953	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.626647820796837	0.502
18	59936186	G	C	18	62268953	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.304507628354863	0.392
18	59936186	G	T	18	62268953	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.625850108993206	0.44
18	59936187	G	A	18	62268954	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.31665889433283E-4	0.004
18	59936187	G	C	18	62268954	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.41482030867009E-5	0.012
18	59936187	G	T	18	62268954	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.68189510853043E-5	0.004
18	59936188	G	A	18	62268955	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.07097082037452E-5	0.004
18	59936188	G	C	18	62268955	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.07097082037452E-5	0.0
18	59936188	G	T	18	62268955	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.46242793764993E-5	0.0
18	59936189	A	C	18	62268956	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.49218586110481E-5	0.0
18	59936189	A	G	18	62268956	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.86653617130898E-5	0.006
18	59936189	A	T	18	62268956	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.14806382485061E-5	0.0
18	59936632	T	A	18	62269399	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.52384363656201E-4	0.01
18	59936632	T	C	18	62269399	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.3456680010958E-4	0.02
18	59936632	T	G	18	62269399	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.3456680010958E-4	0.008
18	59936633	T	A	18	62269400	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.0242608109625E-4	0.004
18	59936633	T	C	18	62269400	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.03835810231818E-4	0.01
18	59936633	T	G	18	62269400	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.03835810231818E-4	0.012
18	59936634	T	A	18	62269401	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.13516392517987E-4	0.01
18	59936634	T	C	18	62269401	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.23111026084495E-4	0.008
18	59936634	T	G	18	62269401	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.23111026084495E-4	0.008
18	59936635	T	A	18	62269402	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.13516392517987E-4	0.008
18	59936635	T	C	18	62269402	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.23111026084495E-4	0.02
18	59936635	T	G	18	62269402	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.23111026084495E-4	0.018
18	59936636	T	A	18	62269403	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.4076558401562E-4	0.006
18	59936636	T	C	18	62269403	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936636	T	G	18	62269403	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936637	T	A	18	62269404	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.4076558401562E-4	0.006
18	59936637	T	C	18	62269404	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936637	T	G	18	62269404	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936638	T	A	18	62269405	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.4076558401562E-4	0.006
18	59936638	T	C	18	62269405	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936638	T	G	18	62269405	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936639	T	A	18	62269406	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.4076558401562E-4	0.006
18	59936639	T	C	18	62269406	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936639	T	G	18	62269406	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936640	T	A	18	62269407	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.4076558401562E-4	0.006
18	59936640	T	C	18	62269407	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936640	T	G	18	62269407	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.08739841361144E-4	0.006
18	59936641	C	A	18	62269408	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.15011682295919E-4	0.024
18	59936641	C	G	18	62269408	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.32798832232803E-5	0.022
18	59936641	C	T	18	62269408	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.15011682295919E-4	0.018
18	59936642	A	C	18	62269409	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2761-2A>C)	.	.	9.13516392517987E-4	0.008
18	59936642	A	G	18	62269409	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2761-2A>G)	.	.	9.13516392517987E-4	0.008
18	59936642	A	T	18	62269409	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2761-2A>T)	.	.	0.00115202640557102	0.008
18	59936643	G	A	18	62269410	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2761-1G>A)	.	.	2.90182552962087E-4	0.03
18	59936643	G	C	18	62269410	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2761-1G>C)	.	.	2.90182552962087E-4	0.076
18	59936643	G	T	18	62269410	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2761-1G>T)	.	.	2.90182552962087E-4	0.012
18	59936644	A	C	18	62269411	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.A2761C:p.I921L;	6.4243997895107E-5	0.006
18	59936644	A	G	18	62269411	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.A2761G:p.I921V;	8.90177193295887E-6	0.002
18	59936644	A	T	18	62269411	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.A2761T:p.I921L;	6.4243997895107E-5	0.006
18	59936645	T	A	18	62269412	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.T2762A:p.I921K;	9.23111026084495E-4	0.02
18	59936645	T	C	18	62269412	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.T2762C:p.I921T;	3.39623879363549E-4	0.006
18	59936645	T	G	18	62269412	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.T2762G:p.I921R;	8.77536005455013E-4	0.02
18	59936743	A	C	18	62269510	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.A2860C:p.K954Q;	1.69884688945688E-4	0.004
18	59936743	A	G	18	62269510	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.A2860G:p.K954E;	4.71557251412777E-4	0.004
18	59936743	A	T	18	62269510	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000256858:exon21:c.A2860T:p.K954X;	0.0025055396234838	0.372
18	59936744	A	C	18	62269511	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.A2861C:p.K954T;	8.77536005455013E-4	0.002
18	59936744	A	G	18	62269511	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.A2861G:p.K954R;	1.4076558401562E-4	0.002
18	59936744	A	T	18	62269511	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.A2861T:p.K954M;	9.13516392517987E-4	0.006
18	59936745	G	A	18	62269512	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.G2862A:p.K954K;	3.39529611572298E-5	0.004
18	59936745	G	C	18	62269512	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.G2862C:p.K954N;	2.09562936375766E-4	0.012
18	59936745	G	T	18	62269512	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon21:c.G2862T:p.K954N;	2.09562936375766E-4	0.004
18	59936746	G	A	18	62269513	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2862+1G>A)	.	.	4.33799117438955E-4	0.016
18	59936746	G	C	18	62269513	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2862+1G>C)	.	.	2.65230034870006E-4	0.004
18	59936746	G	T	18	62269513	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2862+1G>T)	.	.	2.63221077055956E-4	0.006
18	59936747	T	A	18	62269514	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2862+2T>A)	.	.	2.03636003644565E-4	0.034
18	59936747	T	C	18	62269514	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2862+2T>C)	.	.	0.00246951062688554	0.06
18	59936747	T	G	18	62269514	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon21:c.2862+2T>G)	.	.	0.00246951062688554	0.06
18	59936748	A	C	18	62269515	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.82961236541207E-4	0.008
18	59936748	A	G	18	62269515	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.77798218238944E-4	0.004
18	59936748	A	T	18	62269515	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.71557251412777E-4	0.002
18	59936749	A	C	18	62269516	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.77536005455013E-4	0.004
18	59936749	A	G	18	62269516	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.77536005455013E-4	0.022
18	59936749	A	T	18	62269516	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.14959085947539E-4	0.016
18	59936750	T	A	18	62269517	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.14959085947539E-4	0.004
18	59936750	T	C	18	62269517	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.77536005455013E-4	0.002
18	59936750	T	G	18	62269517	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.77536005455013E-4	0.002
18	59936751	T	A	18	62269518	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.41472481671767E-4	0.004
18	59936751	T	C	18	62269518	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.77536005455013E-4	0.002
18	59936751	T	G	18	62269518	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.77536005455013E-4	0.002
18	59936752	T	A	18	62269519	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.41472481671767E-4	0.022
18	59936752	T	C	18	62269519	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.77536005455013E-4	0.002
18	59936752	T	G	18	62269519	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.77536005455013E-4	0.002
18	59936753	T	A	18	62269520	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.23111026084495E-4	0.008
18	59936753	T	C	18	62269520	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.41472481671767E-4	0.03
18	59936753	T	G	18	62269520	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.23111026084495E-4	0.058
18	59941201	T	A	18	62273968	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.641259731049014	0.614
18	59941201	T	C	18	62273968	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.29893095353275	0.442
18	59941201	T	G	18	62273968	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.610546452789152	0.578
18	59941202	T	A	18	62273969	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0143921009322434	0.314
18	59941202	T	C	18	62273969	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00254473954758313	0.106
18	59941202	T	G	18	62273969	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00253248154465565	0.176
18	59941203	T	A	18	62273970	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0113812132404489	0.21
18	59941203	T	C	18	62273970	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00130021429329559	0.04
18	59941203	T	G	18	62273970	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0192951755506789	0.182
18	59941204	C	A	18	62273971	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00464814879612945	0.132
18	59941204	C	G	18	62273971	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0026660140151714	0.058
18	59941204	C	T	18	62273971	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.29809124745344E-4	0.074
18	59941205	C	A	18	62273972	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.24299168003308E-4	0.02
18	59941205	C	G	18	62273972	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.80325229510597E-4	0.03
18	59941205	C	T	18	62273972	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.23673426856993E-5	0.0
18	59941206	T	A	18	62273973	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0335604926510435	0.24
18	59941206	T	C	18	62273973	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00565927515480439	0.084
18	59941206	T	G	18	62273973	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0394166785068137	0.294
18	59941207	C	A	18	62273974	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.54496187166113E-4	0.05
18	59941207	C	G	18	62273974	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.56703993930781E-4	0.044
18	59941207	C	T	18	62273974	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.83671902394644E-5	0.006
18	59941208	T	A	18	62273975	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997554925740334	0.856
18	59941208	T	C	18	62273975	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.0413507717544E-5	0.012
18	59941208	T	G	18	62273975	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00154932389846153	0.192
18	59941209	G	A	18	62273976	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.12615627697348E-4	0.008
18	59941209	G	C	18	62273976	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.3939843710019E-5	0.0
18	59941209	G	T	18	62273976	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.35831543610088E-5	0.0
18	59941210	T	A	18	62273977	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0357723134789474	0.336
18	59941210	T	C	18	62273977	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.28579994528419E-4	0.01
18	59941210	T	G	18	62273977	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996648075309467	0.664
18	59941211	A	C	18	62273978	y	y	splicing	KIAA1468(NM_020854:exon21:c.2761-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2863-2A>C;ENST00000398130:exon21:c.2761-2A>C;ENST00000587725:exon21:c.2749-2A>C;ENST00000588446:exon6:c.459-2A>C)	.	.	0.999988247793601	0.932
18	59941211	A	G	18	62273978	y	y	splicing	KIAA1468(NM_020854:exon21:c.2761-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2863-2A>G;ENST00000398130:exon21:c.2761-2A>G;ENST00000587725:exon21:c.2749-2A>G;ENST00000588446:exon6:c.459-2A>G)	.	.	0.999988247793601	0.932
18	59941211	A	T	18	62273978	y	y	splicing	KIAA1468(NM_020854:exon21:c.2761-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2863-2A>T;ENST00000398130:exon21:c.2761-2A>T;ENST00000587725:exon21:c.2749-2A>T;ENST00000588446:exon6:c.459-2A>T)	.	.	0.999988247793601	0.932
18	59941212	G	A	18	62273979	y	y	splicing	KIAA1468(NM_020854:exon21:c.2761-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2863-1G>A;ENST00000398130:exon21:c.2761-1G>A;ENST00000587725:exon21:c.2749-1G>A;ENST00000588446:exon6:c.459-1G>A)	.	.	0.999990361384395	0.938
18	59941212	G	C	18	62273979	y	y	splicing	KIAA1468(NM_020854:exon21:c.2761-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2863-1G>C;ENST00000398130:exon21:c.2761-1G>C;ENST00000587725:exon21:c.2749-1G>C;ENST00000588446:exon6:c.459-1G>C)	.	.	0.999990361384395	0.938
18	59941212	G	T	18	62273979	y	y	splicing	KIAA1468(NM_020854:exon21:c.2761-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2863-1G>T;ENST00000398130:exon21:c.2761-1G>T;ENST00000587725:exon21:c.2749-1G>T;ENST00000588446:exon6:c.459-1G>T)	.	.	0.999990361384395	0.938
18	59941213	G	A	18	62273980	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2761A:p.E921K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2761A:p.E921K;ENSG00000134444:ENST00000587725:exon21:c.G2749A:p.E917K;ENSG00000134444:ENST00000256858:exon22:c.G2863A:p.E955K;	0.998846553608401	0.942
18	59941213	G	C	18	62273980	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2761C:p.E921Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2761C:p.E921Q;ENSG00000134444:ENST00000587725:exon21:c.G2749C:p.E917Q;ENSG00000134444:ENST00000256858:exon22:c.G2863C:p.E955Q;	0.999771538729567	0.934
18	59941213	G	T	18	62273980	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon21:c.G2761T:p.E921X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon21:c.G2761T:p.E921X;ENSG00000134444:ENST00000587725:exon21:c.G2749T:p.E917X;ENSG00000134444:ENST00000256858:exon22:c.G2863T:p.E955X;	0.999886359732351	0.962
18	59941214	A	C	18	62273981	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.A2762C:p.E921A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.A2762C:p.E921A;ENSG00000134444:ENST00000587725:exon21:c.A2750C:p.E917A;ENSG00000134444:ENST00000256858:exon22:c.A2864C:p.E955A;	0.918741146805298	0.862
18	59941214	A	G	18	62273981	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.A2762G:p.E921G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.A2762G:p.E921G;ENSG00000134444:ENST00000587725:exon21:c.A2750G:p.E917G;ENSG00000134444:ENST00000256858:exon22:c.A2864G:p.E955G;	0.92423304549642	0.652
18	59941214	A	T	18	62273981	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.A2762T:p.E921V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.A2762T:p.E921V;ENSG00000134444:ENST00000587725:exon21:c.A2750T:p.E917V;ENSG00000134444:ENST00000256858:exon22:c.A2864T:p.E955V;	0.868666599350842	0.836
18	59941317	G	A	18	62274084	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon21:c.G2865A:p.L955L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2865A:p.L955L;ENSG00000134444:ENST00000587725:exon21:c.G2853A:p.L951L;ENSG00000134444:ENST00000256858:exon22:c.G2967A:p.L989L;	2.2399443344101E-5	0.044
18	59941317	G	C	18	62274084	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2865C:p.L955F;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2865C:p.L955F;ENSG00000134444:ENST00000587725:exon21:c.G2853C:p.L951F;ENSG00000134444:ENST00000256858:exon22:c.G2967C:p.L989F;	3.27778045541399E-4	0.152
18	59941317	G	T	18	62274084	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2865T:p.L955F;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2865T:p.L955F;ENSG00000134444:ENST00000587725:exon21:c.G2853T:p.L951F;ENSG00000134444:ENST00000256858:exon22:c.G2967T:p.L989F;	6.81085149030632E-4	0.062
18	59941318	G	A	18	62274085	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2866A:p.G956S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2866A:p.G956S;ENSG00000134444:ENST00000587725:exon21:c.G2854A:p.G952S;ENSG00000134444:ENST00000256858:exon22:c.G2968A:p.G990S;	0.972935588274268	0.676
18	59941318	G	C	18	62274085	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2866C:p.G956R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2866C:p.G956R;ENSG00000134444:ENST00000587725:exon21:c.G2854C:p.G952R;ENSG00000134444:ENST00000256858:exon22:c.G2968C:p.G990R;	0.988936492077312	0.894
18	59941318	G	T	18	62274085	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2866T:p.G956C;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2866T:p.G956C;ENSG00000134444:ENST00000587725:exon21:c.G2854T:p.G952C;ENSG00000134444:ENST00000256858:exon22:c.G2968T:p.G990C;	0.992603388776749	0.83
18	59941319	G	A	18	62274086	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2867A:p.G956D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2867A:p.G956D;ENSG00000134444:ENST00000587725:exon21:c.G2855A:p.G952D;ENSG00000134444:ENST00000256858:exon22:c.G2969A:p.G990D;	0.999994868013052	1.0
18	59941319	G	C	18	62274086	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2867C:p.G956A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2867C:p.G956A;ENSG00000134444:ENST00000587725:exon21:c.G2855C:p.G952A;ENSG00000134444:ENST00000256858:exon22:c.G2969C:p.G990A;	0.999998053034899	0.976
18	59941319	G	T	18	62274086	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon21:c.G2867T:p.G956V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon21:c.G2867T:p.G956V;ENSG00000134444:ENST00000587725:exon21:c.G2855T:p.G952V;ENSG00000134444:ENST00000256858:exon22:c.G2969T:p.G990V;	0.999994415037265	1.0
18	59941320	G	A	18	62274087	y	y	splicing	KIAA1468(NM_020854:exon21:c.2867+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2969+1G>A;ENST00000398130:exon21:c.2867+1G>A;ENST00000587725:exon21:c.2855+1G>A;ENST00000588446:exon6:c.565+1G>A)	.	.	0.999990361384395	0.938
18	59941320	G	C	18	62274087	y	y	splicing	KIAA1468(NM_020854:exon21:c.2867+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2969+1G>C;ENST00000398130:exon21:c.2867+1G>C;ENST00000587725:exon21:c.2855+1G>C;ENST00000588446:exon6:c.565+1G>C)	.	.	0.999990361384395	0.938
18	59941320	G	T	18	62274087	y	y	splicing	KIAA1468(NM_020854:exon21:c.2867+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2969+1G>T;ENST00000398130:exon21:c.2867+1G>T;ENST00000587725:exon21:c.2855+1G>T;ENST00000588446:exon6:c.565+1G>T)	.	.	0.999990361384395	0.938
18	59941321	T	A	18	62274088	y	y	splicing	KIAA1468(NM_020854:exon21:c.2867+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2969+2T>A;ENST00000398130:exon21:c.2867+2T>A;ENST00000587725:exon21:c.2855+2T>A;ENST00000588446:exon6:c.565+2T>A)	.	.	0.999988247793601	0.932
18	59941321	T	C	18	62274088	y	y	splicing	KIAA1468(NM_020854:exon21:c.2867+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2969+2T>C;ENST00000398130:exon21:c.2867+2T>C;ENST00000587725:exon21:c.2855+2T>C;ENST00000588446:exon6:c.565+2T>C)	.	.	0.999934643991786	0.904
18	59941321	T	G	18	62274088	y	y	splicing	KIAA1468(NM_020854:exon21:c.2867+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon22:c.2969+2T>G;ENST00000398130:exon21:c.2867+2T>G;ENST00000587725:exon21:c.2855+2T>G;ENST00000588446:exon6:c.565+2T>G)	.	.	0.999988247793601	0.932
18	59941322	A	C	18	62274089	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999887690878807	0.934
18	59941322	A	G	18	62274089	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995194951864472	0.704
18	59941322	A	T	18	62274089	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999876715419578	0.986
18	59941323	A	C	18	62274090	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997893951981152	0.93
18	59941323	A	G	18	62274090	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999215704122996	0.966
18	59941323	A	T	18	62274090	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998683178081807	0.93
18	59941324	G	A	18	62274091	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.990814267940198	0.818
18	59941324	G	C	18	62274091	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.987956996120347	0.834
18	59941324	G	T	18	62274091	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.978849051200785	0.712
18	59941325	A	C	18	62274092	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00237894148026277	0.088
18	59941325	A	G	18	62274092	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.10898393612687E-4	0.004
18	59941325	A	T	18	62274092	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.48898520922164E-4	0.004
18	59941326	A	C	18	62274093	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00676312259178108	0.02
18	59941326	A	G	18	62274093	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00561369811323154	0.02
18	59941326	A	T	18	62274093	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00561369811323154	0.034
18	59941327	A	C	18	62274094	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.17569729565967E-4	0.0
18	59941327	A	G	18	62274094	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.17569729565967E-4	0.004
18	59941327	A	T	18	62274094	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.35516193859006E-4	0.0
18	59942595	T	A	18	62275362	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00104201498050251	0.184
18	59942595	T	C	18	62275362	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00251566066740019	0.034
18	59942595	T	G	18	62275362	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00133070360802773	0.204
18	59942596	T	A	18	62275363	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.734063610656325	0.598
18	59942596	T	C	18	62275363	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.503768425727256	0.554
18	59942596	T	G	18	62275363	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.704820282813341	0.608
18	59942597	T	A	18	62275364	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00255559225704035	0.106
18	59942597	T	C	18	62275364	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00634716285525177	0.03
18	59942597	T	G	18	62275364	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00271636598877324	0.08
18	59942598	T	A	18	62275365	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.94425179558254E-5	0.076
18	59942598	T	C	18	62275365	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.8282089645481E-5	0.036
18	59942598	T	G	18	62275365	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.90018716125271E-5	0.08
18	59942599	T	A	18	62275366	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.25166832645804E-4	0.068
18	59942599	T	C	18	62275366	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.09334246876173E-4	0.022
18	59942599	T	G	18	62275366	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.97690632994873E-4	0.068
18	59942600	C	A	18	62275367	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.21238287482587E-4	0.048
18	59942600	C	G	18	62275367	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.09759633933738E-4	0.04
18	59942600	C	T	18	62275367	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.93450880391086E-4	0.012
18	59942601	T	A	18	62275368	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00197861360236461	0.088
18	59942601	T	C	18	62275368	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.62756226820614E-4	0.016
18	59942601	T	G	18	62275368	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00662811075134147	0.144
18	59942602	T	A	18	62275369	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00142168587547137	0.21
18	59942602	T	C	18	62275369	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00181891001251269	0.034
18	59942602	T	G	18	62275369	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00244205364333283	0.198
18	59942603	C	A	18	62275370	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.76512956858531E-4	0.01
18	59942603	C	G	18	62275370	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.39152119970077E-4	0.018
18	59942603	C	T	18	62275370	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.37128969481509E-4	0.004
18	59942604	T	A	18	62275371	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0630793702959088	0.256
18	59942604	T	C	18	62275371	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.82325482341538E-4	0.018
18	59942604	T	G	18	62275371	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999550207374036	0.774
18	59942605	A	C	18	62275372	y	y	splicing	KIAA1468(NM_020854:exon22:c.2868-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon23:c.2970-2A>C;ENST00000398130:exon22:c.2868-2A>C;ENST00000587725:exon22:c.2856-2A>C;ENST00000588446:exon7:c.566-2A>C)	.	.	0.999988247793601	0.932
18	59942605	A	G	18	62275372	y	y	splicing	KIAA1468(NM_020854:exon22:c.2868-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon23:c.2970-2A>G;ENST00000398130:exon22:c.2868-2A>G;ENST00000587725:exon22:c.2856-2A>G;ENST00000588446:exon7:c.566-2A>G)	.	.	0.999988247793601	0.932
18	59942605	A	T	18	62275372	y	y	splicing	KIAA1468(NM_020854:exon22:c.2868-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon23:c.2970-2A>T;ENST00000398130:exon22:c.2868-2A>T;ENST00000587725:exon22:c.2856-2A>T;ENST00000588446:exon7:c.566-2A>T)	.	.	0.999988247793601	0.932
18	59942606	G	A	18	62275373	y	y	splicing	KIAA1468(NM_020854:exon22:c.2868-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon23:c.2970-1G>A;ENST00000398130:exon22:c.2868-1G>A;ENST00000587725:exon22:c.2856-1G>A;ENST00000588446:exon7:c.566-1G>A)	.	.	0.999990361384395	0.938
18	59942606	G	C	18	62275373	y	y	splicing	KIAA1468(NM_020854:exon22:c.2868-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon23:c.2970-1G>C;ENST00000398130:exon22:c.2868-1G>C;ENST00000587725:exon22:c.2856-1G>C;ENST00000588446:exon7:c.566-1G>C)	.	.	0.999990361384395	0.938
18	59942606	G	T	18	62275373	y	y	splicing	KIAA1468(NM_020854:exon22:c.2868-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon23:c.2970-1G>T;ENST00000398130:exon22:c.2868-1G>T;ENST00000587725:exon22:c.2856-1G>T;ENST00000588446:exon7:c.566-1G>T)	.	.	0.999990361384395	0.938
18	59942607	T	A	18	62275374	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon22:c.T2868A:p.G956G;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.T2868A:p.G956G;ENSG00000134444:ENST00000587725:exon22:c.T2856A:p.G952G;ENSG00000134444:ENST00000256858:exon23:c.T2970A:p.G990G;	3.04552075371209E-5	0.004
18	59942607	T	C	18	62275374	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon22:c.T2868C:p.G956G;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.T2868C:p.G956G;ENSG00000134444:ENST00000587725:exon22:c.T2856C:p.G952G;ENSG00000134444:ENST00000256858:exon23:c.T2970C:p.G990G;	6.53822761899296E-5	0.02
18	59942607	T	G	18	62275374	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon22:c.T2868G:p.G956G;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.T2868G:p.G956G;ENSG00000134444:ENST00000587725:exon22:c.T2856G:p.G952G;ENSG00000134444:ENST00000256858:exon23:c.T2970G:p.G990G;	4.72017108682459E-5	0.044
18	59942608	G	A	18	62275375	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.G2869A:p.A957T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.G2869A:p.A957T;ENSG00000134444:ENST00000587725:exon22:c.G2857A:p.A953T;ENSG00000134444:ENST00000256858:exon23:c.G2971A:p.A991T;	0.988627905445284	0.758
18	59942608	G	C	18	62275375	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.G2869C:p.A957P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.G2869C:p.A957P;ENSG00000134444:ENST00000587725:exon22:c.G2857C:p.A953P;ENSG00000134444:ENST00000256858:exon23:c.G2971C:p.A991P;	0.988318462167145	0.87
18	59942608	G	T	18	62275375	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.G2869T:p.A957S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.G2869T:p.A957S;ENSG00000134444:ENST00000587725:exon22:c.G2857T:p.A953S;ENSG00000134444:ENST00000256858:exon23:c.G2971T:p.A991S;	0.975945835584243	0.836
18	59942704	G	A	18	62275471	y	n	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.G2965A:p.E989K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.G2965A:p.E989K;ENSG00000134444:ENST00000587725:exon22:c.G2953A:p.E985K;ENSG00000134444:ENST00000256858:exon23:c.G3067A:p.E1023K;	0.9731009640198	0.764
18	59942704	G	C	18	62275471	y	n	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.G2965C:p.E989Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.G2965C:p.E989Q;ENSG00000134444:ENST00000587725:exon22:c.G2953C:p.E985Q;ENSG00000134444:ENST00000256858:exon23:c.G3067C:p.E1023Q;	0.956432711762751	0.718
18	59942704	G	T	18	62275471	y	n	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon22:c.G2965T:p.E989X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon22:c.G2965T:p.E989X;ENSG00000134444:ENST00000587725:exon22:c.G2953T:p.E985X;ENSG00000134444:ENST00000256858:exon23:c.G3067T:p.E1023X;	0.98465128869272	0.834
18	59942705	A	C	18	62275472	y	n	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.A2966C:p.E989A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.A2966C:p.E989A;ENSG00000134444:ENST00000587725:exon22:c.A2954C:p.E985A;ENSG00000134444:ENST00000256858:exon23:c.A3068C:p.E1023A;	0.989780036628151	0.958
18	59942705	A	G	18	62275472	y	n	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.A2966G:p.E989G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.A2966G:p.E989G;ENSG00000134444:ENST00000587725:exon22:c.A2954G:p.E985G;ENSG00000134444:ENST00000256858:exon23:c.A3068G:p.E1023G;	0.999313016946675	0.976
18	59942705	A	T	18	62275472	y	n	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.A2966T:p.E989V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.A2966T:p.E989V;ENSG00000134444:ENST00000587725:exon22:c.A2954T:p.E985V;ENSG00000134444:ENST00000256858:exon23:c.A3068T:p.E1023V;	0.999611562327391	0.992
18	59942706	G	A	18	62275473	y	n	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon22:c.G2967A:p.E989E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.G2967A:p.E989E;ENSG00000134444:ENST00000587725:exon22:c.G2955A:p.E985E;ENSG00000134444:ENST00000256858:exon23:c.G3069A:p.E1023E;	0.999815153911573	0.916
18	59942706	G	C	18	62275473	y	n	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.G2967C:p.E989D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.G2967C:p.E989D;ENSG00000134444:ENST00000587725:exon22:c.G2955C:p.E985D;ENSG00000134444:ENST00000256858:exon23:c.G3069C:p.E1023D;	0.999974377437577	0.976
18	59942706	G	T	18	62275473	y	n	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon22:c.G2967T:p.E989D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon22:c.G2967T:p.E989D;ENSG00000134444:ENST00000587725:exon22:c.G2955T:p.E985D;ENSG00000134444:ENST00000256858:exon23:c.G3069T:p.E1023D;	0.999980048017446	0.976
18	59942707	G	A	18	62275474	y	n	splicing	KIAA1468(NM_020854:exon22:c.2967+1G>A)	.	.	exonic;splicing	ENSG00000134444;ENSG00000134444(ENST00000256858:exon23:c.3069+1G>A;ENST00000398130:exon22:c.2967+1G>A)	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.G2956A:p.V986I;	0.999990361384395	0.938
18	59942707	G	C	18	62275474	y	n	splicing	KIAA1468(NM_020854:exon22:c.2967+1G>C)	.	.	exonic;splicing	ENSG00000134444;ENSG00000134444(ENST00000256858:exon23:c.3069+1G>C;ENST00000398130:exon22:c.2967+1G>C)	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.G2956C:p.V986L;	0.999990361384395	0.938
18	59942707	G	T	18	62275474	y	n	splicing	KIAA1468(NM_020854:exon22:c.2967+1G>T)	.	.	exonic;splicing	ENSG00000134444;ENSG00000134444(ENST00000256858:exon23:c.3069+1G>T;ENST00000398130:exon22:c.2967+1G>T)	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.G2956T:p.V986L;	0.999990361384395	0.938
18	59942708	T	A	18	62275475	y	n	splicing	KIAA1468(NM_020854:exon22:c.2967+2T>A)	.	.	exonic;splicing	ENSG00000134444;ENSG00000134444(ENST00000256858:exon23:c.3069+2T>A;ENST00000398130:exon22:c.2967+2T>A)	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.T2957A:p.V986E;	0.999988247793601	0.932
18	59942708	T	C	18	62275475	y	n	splicing	KIAA1468(NM_020854:exon22:c.2967+2T>C)	.	.	exonic;splicing	ENSG00000134444;ENSG00000134444(ENST00000256858:exon23:c.3069+2T>C;ENST00000398130:exon22:c.2967+2T>C)	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.T2957C:p.V986A;	0.995860393391959	0.72
18	59942708	T	G	18	62275475	y	n	splicing	KIAA1468(NM_020854:exon22:c.2967+2T>G)	.	.	exonic;splicing	ENSG00000134444;ENSG00000134444(ENST00000256858:exon23:c.3069+2T>G;ENST00000398130:exon22:c.2967+2T>G)	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.T2957G:p.V986G;	0.999988247793601	0.932
18	59942709	A	C	18	62275476	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.A2958C:p.V986V;	0.999477429647134	0.964
18	59942709	A	G	18	62275476	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.A2958G:p.V986V;	0.994428250278315	0.862
18	59942709	A	T	18	62275476	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.A2958T:p.V986V;	0.999764907409827	0.952
18	59942710	T	A	18	62275477	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.T2959A:p.C987S;	1.29968167059496E-4	0.082
18	59942710	T	C	18	62275477	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.T2959C:p.C987R;	1.81739471077851E-4	0.006
18	59942710	T	G	18	62275477	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.T2959G:p.C987G;	1.52564481790677E-4	0.0
18	59942711	G	A	18	62275478	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.G2960A:p.C987Y;	0.997494065317276	0.628
18	59942711	G	C	18	62275478	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.G2960C:p.C987S;	0.998856261820119	0.774
18	59942711	G	T	18	62275478	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.G2960T:p.C987F;	0.979059941470381	0.73
18	59942712	T	A	18	62275479	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000587725:exon22:c.T2961A:p.C987X;	0.151581920375317	0.372
18	59942712	T	C	18	62275479	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.T2961C:p.C987C;	0.0546923127138465	0.392
18	59942712	T	G	18	62275479	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.T2961G:p.C987W;	0.0130336369437101	0.284
18	59942713	C	A	18	62275480	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.C2962A:p.Q988K;	1.84751828863939E-4	0.018
18	59942713	C	G	18	62275480	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.C2962G:p.Q988E;	1.68999923707042E-4	0.01
18	59942713	C	T	18	62275480	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000587725:exon22:c.C2962T:p.Q988X;	1.86521203109446E-4	0.01
18	59942714	A	C	18	62275481	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.A2963C:p.Q988P;	6.7438804318929E-5	0.03
18	59942714	A	G	18	62275481	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.A2963G:p.Q988R;	9.22968560456091E-5	0.034
18	59942714	A	T	18	62275481	y	n	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000587725:exon22:c.A2963T:p.Q988L;	1.47600184168207E-4	0.022
18	59946995	C	A	18	62279762	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0152979872413424	0.2
18	59946995	C	G	18	62279762	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0152979872413424	0.162
18	59946995	C	T	18	62279762	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0152979872413424	0.23
18	59946996	T	A	18	62279763	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0396071572689364	0.256
18	59946996	T	C	18	62279763	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0396071572689364	0.188
18	59946996	T	G	18	62279763	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0396071572689364	0.188
18	59946997	G	A	18	62279764	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995030058536757	0.92
18	59946997	G	C	18	62279764	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995030058536757	0.894
18	59946997	G	T	18	62279764	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995030058536757	0.898
18	59946998	A	C	18	62279765	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.93283549970571	0.774
18	59946998	A	G	18	62279765	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.93283549970571	0.776
18	59946998	A	T	18	62279765	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.93283549970571	0.782
18	59946999	C	A	18	62279766	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00267613213208465	0.036
18	59946999	C	G	18	62279766	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00180996960304325	0.054
18	59946999	C	T	18	62279766	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00264836524286982	0.028
18	59947000	C	A	18	62279767	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0218013593461534	0.074
18	59947000	C	G	18	62279767	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0148371759462779	0.076
18	59947000	C	T	18	62279767	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0218013593461534	0.07
18	59947001	A	C	18	62279768	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.03
18	59947001	A	G	18	62279768	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.03
18	59947001	A	T	18	62279768	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.044
18	59947002	A	C	18	62279769	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.024
18	59947002	A	G	18	62279769	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.02
18	59947002	A	T	18	62279769	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.028
18	59947003	T	A	18	62279770	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.03
18	59947003	T	C	18	62279770	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.03
18	59947003	T	G	18	62279770	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00724745347536928	0.032
18	59947004	C	A	18	62279771	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0243156145864903	0.082
18	59947004	C	G	18	62279771	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0243156145864903	0.072
18	59947004	C	T	18	62279771	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0243156145864903	0.086
18	59947005	A	C	18	62279772	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3070-2A>C)	.	.	0.945209598566082	0.82
18	59947005	A	G	18	62279772	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3070-2A>G)	.	.	0.945209598566082	0.82
18	59947005	A	T	18	62279772	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3070-2A>T)	.	.	0.945209598566082	0.834
18	59947006	G	A	18	62279773	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3070-1G>A)	.	.	0.995876797705294	0.864
18	59947006	G	C	18	62279773	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3070-1G>C)	.	.	0.993733916693694	0.856
18	59947006	G	T	18	62279773	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3070-1G>T)	.	.	0.99322353305357	0.854
18	59947007	C	A	18	62279774	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.C3070A:p.L1024M;	0.995030058536757	0.898
18	59947007	C	G	18	62279774	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.C3070G:p.L1024V;	0.0148371759462779	0.068
18	59947007	C	T	18	62279774	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.C3070T:p.L1024L;	0.0243156145864903	0.09
18	59947008	T	A	18	62279775	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.T3071A:p.L1024Q;	0.231199432653511	0.426
18	59947008	T	C	18	62279775	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.T3071C:p.L1024P;	0.93283549970571	0.768
18	59947008	T	G	18	62279775	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.T3071G:p.L1024R;	0.93283549970571	0.774
18	59947087	A	C	18	62279854	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.A3150C:p.E1050D;	0.881847928508037	0.68
18	59947087	A	G	18	62279854	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.A3150G:p.E1050E;	0.00568873905581629	0.02
18	59947087	A	T	18	62279854	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.A3150T:p.E1050D;	0.897610241732012	0.69
18	59947088	A	C	18	62279855	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.A3151C:p.I1051L;	0.897610241732012	0.69
18	59947088	A	G	18	62279855	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.A3151G:p.I1051V;	0.00297525393778945	0.012
18	59947088	A	T	18	62279855	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.A3151T:p.I1051F;	0.184478877540035	0.452
18	59947089	T	A	18	62279856	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.T3152A:p.I1051N;	0.917131522354322	0.7
18	59947089	T	C	18	62279856	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.T3152C:p.I1051T;	0.0316309368216039	0.086
18	59947089	T	G	18	62279856	n	y	intronic	KIAA1468	.	.	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000256858:exon24:c.T3152G:p.I1051S;	0.869880793457227	0.662
18	59947090	G	A	18	62279857	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3152+1G>A)	.	.	0.991423892014245	0.922
18	59947090	G	C	18	62279857	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3152+1G>C)	.	.	0.993349593042562	0.922
18	59947090	G	T	18	62279857	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3152+1G>T)	.	.	0.993349593042562	0.926
18	59947091	T	A	18	62279858	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3152+2T>A)	.	.	0.915888928777796	0.728
18	59947091	T	C	18	62279858	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3152+2T>C)	.	.	0.917131522354322	0.7
18	59947091	T	G	18	62279858	n	y	intronic	KIAA1468	.	.	splicing	ENSG00000134444(ENST00000256858:exon24:c.3152+2T>G)	.	.	0.917131522354322	0.704
18	59947092	A	C	18	62279859	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0126820442629578	0.022
18	59947092	A	G	18	62279859	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0126820442629578	0.022
18	59947092	A	T	18	62279859	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0152297992836339	0.024
18	59947093	A	C	18	62279860	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0126820442629578	0.022
18	59947093	A	G	18	62279860	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0126820442629578	0.022
18	59947093	A	T	18	62279860	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0152297992836339	0.024
18	59947094	G	A	18	62279861	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0343998936554931	0.054
18	59947094	G	C	18	62279861	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0203041913402469	0.058
18	59947094	G	T	18	62279861	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0343998936554931	0.054
18	59947095	T	A	18	62279862	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0152297992836339	0.024
18	59947095	T	C	18	62279862	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0146216942096212	0.022
18	59947095	T	G	18	62279862	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0146216942096212	0.022
18	59947096	G	A	18	62279863	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00524585767184195	0.04
18	59947096	G	C	18	62279863	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00506625539714419	0.052
18	59947096	G	T	18	62279863	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00524585767184195	0.046
18	59947097	T	A	18	62279864	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.0180149904064E-5	0.006
18	59947097	T	C	18	62279864	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.27145488438373E-5	0.0
18	59947097	T	G	18	62279864	n	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.27145488438373E-5	0.002
18	59947581	A	C	18	62280348	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0636713921217627	0.488
18	59947581	A	G	18	62280348	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0425906396702798	0.248
18	59947581	A	T	18	62280348	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0692683036464731	0.496
18	59947582	C	A	18	62280349	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.925423566093761	0.648
18	59947582	C	G	18	62280349	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999937295613677	0.974
18	59947582	C	T	18	62280349	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.958296309494173	0.704
18	59947583	T	A	18	62280350	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99997838346523	0.966
18	59947583	T	C	18	62280350	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.37226266571999	0.39
18	59947583	T	G	18	62280350	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999130423432849	0.91
18	59947584	G	A	18	62280351	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999948043773785	0.944
18	59947584	G	C	18	62280351	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.971713598058145	0.718
18	59947584	G	T	18	62280351	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.965493224035387	0.722
18	59947585	G	A	18	62280352	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0430760456830099	0.162
18	59947585	G	C	18	62280352	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00339864702847915	0.056
18	59947585	G	T	18	62280352	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00297708327717234	0.06
18	59947586	T	A	18	62280353	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.9916669327432	0.744
18	59947586	T	C	18	62280353	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00383461639150358	0.13
18	59947586	T	G	18	62280353	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.967824730566738	0.606
18	59947587	T	A	18	62280354	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995762128156052	0.798
18	59947587	T	C	18	62280354	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0119532144045665	0.242
18	59947587	T	G	18	62280354	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.990222166094797	0.79
18	59947588	T	A	18	62280355	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.994600847625681	0.9
18	59947588	T	C	18	62280355	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.133257851648833	0.282
18	59947588	T	G	18	62280355	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.991725895032353	0.888
18	59947589	A	C	18	62280356	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.51877327955239E-4	0.078
18	59947589	A	G	18	62280356	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.33195646732648E-4	0.08
18	59947589	A	T	18	62280356	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.05996139540239E-4	0.03
18	59947590	C	A	18	62280357	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.969876064249459	0.86
18	59947590	C	G	18	62280357	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999722692056396	0.88
18	59947590	C	T	18	62280357	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.43754182517214	0.424
18	59947591	A	C	18	62280358	y	y	splicing	KIAA1468(NM_020854:exon23:c.2968-2A>C)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.2968-2A>C)	.	.	0.999979394981131	0.91
18	59947591	A	G	18	62280358	y	y	splicing	KIAA1468(NM_020854:exon23:c.2968-2A>G)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.2968-2A>G)	.	.	0.999979394981131	0.91
18	59947591	A	T	18	62280358	y	y	splicing	KIAA1468(NM_020854:exon23:c.2968-2A>T)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.2968-2A>T)	.	.	0.999979394981131	0.91
18	59947592	G	A	18	62280359	y	y	splicing	KIAA1468(NM_020854:exon23:c.2968-1G>A)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.2968-1G>A)	.	.	0.999980303772886	0.906
18	59947592	G	C	18	62280359	y	y	splicing	KIAA1468(NM_020854:exon23:c.2968-1G>C)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.2968-1G>C)	.	.	0.999980303772886	0.904
18	59947592	G	T	18	62280359	y	y	splicing	KIAA1468(NM_020854:exon23:c.2968-1G>T)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.2968-1G>T)	.	.	0.999980303772886	0.906
18	59947593	C	A	18	62280360	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.C2968A:p.L990M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.C2968A:p.L990M;	0.595655510904484	0.568
18	59947593	C	G	18	62280360	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.C2968G:p.L990V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.C2968G:p.L990V;	0.00572566863348256	0.1
18	59947593	C	T	18	62280360	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon23:c.C2968T:p.L990L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.C2968T:p.L990L;	0.0190196313245299	0.298
18	59947594	T	A	18	62280361	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T2969A:p.L990Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T2969A:p.L990Q;	0.804757466598069	0.4
18	59947594	T	C	18	62280361	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T2969C:p.L990P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T2969C:p.L990P;	0.697850591364473	0.428
18	59947594	T	G	18	62280361	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T2969G:p.L990R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T2969G:p.L990R;	0.691015376597787	0.382
18	59947673	A	C	18	62280440	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.A3048C:p.E1016D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.A3048C:p.E1016D;	0.878536456248023	0.552
18	59947673	A	G	18	62280440	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon23:c.A3048G:p.E1016E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.A3048G:p.E1016E;	0.199339664954399	0.27
18	59947673	A	T	18	62280440	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.A3048T:p.E1016D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.A3048T:p.E1016D;	0.99888422084746	0.806
18	59947674	T	A	18	62280441	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T3049A:p.F1017I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T3049A:p.F1017I;	0.00114114432572531	0.09
18	59947674	T	C	18	62280441	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T3049C:p.F1017L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T3049C:p.F1017L;	0.979059694565217	0.692
18	59947674	T	G	18	62280441	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T3049G:p.F1017V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T3049G:p.F1017V;	0.0377470163153348	0.256
18	59947675	T	A	18	62280442	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T3050A:p.F1017Y;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T3050A:p.F1017Y;	0.899593255163206	0.51
18	59947675	T	C	18	62280442	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T3050C:p.F1017S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T3050C:p.F1017S;	0.981078098631996	0.704
18	59947675	T	G	18	62280442	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon23:c.T3050G:p.F1017C;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon23:c.T3050G:p.F1017C;	0.439935673218752	0.276
18	59947676	G	A	18	62280443	y	y	splicing	KIAA1468(NM_020854:exon23:c.3050+1G>A)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.3050+1G>A)	.	.	0.999989072007339	0.938
18	59947676	G	C	18	62280443	y	y	splicing	KIAA1468(NM_020854:exon23:c.3050+1G>C)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.3050+1G>C)	.	.	0.999989072007339	0.938
18	59947676	G	T	18	62280443	y	y	splicing	KIAA1468(NM_020854:exon23:c.3050+1G>T)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.3050+1G>T)	.	.	0.999989072007339	0.938
18	59947677	T	A	18	62280444	y	y	splicing	KIAA1468(NM_020854:exon23:c.3050+2T>A)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.3050+2T>A)	.	.	0.999988247793601	0.942
18	59947677	T	C	18	62280444	y	y	splicing	KIAA1468(NM_020854:exon23:c.3050+2T>C)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.3050+2T>C)	.	.	0.999943260809542	0.89
18	59947677	T	G	18	62280444	y	y	splicing	KIAA1468(NM_020854:exon23:c.3050+2T>G)	.	.	splicing	ENSG00000134444(ENST00000398130:exon23:c.3050+2T>G)	.	.	0.999988247793601	0.942
18	59947678	G	A	18	62280445	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00252719983915515	0.06
18	59947678	G	C	18	62280445	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999923590827162	0.8
18	59947678	G	T	18	62280445	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999930588350904	0.806
18	59947679	A	C	18	62280446	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998152717643227	0.916
18	59947679	A	G	18	62280446	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999739243647953	0.964
18	59947679	A	T	18	62280446	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999808047164634	0.938
18	59947680	G	A	18	62280447	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999980068870974	1.0
18	59947680	G	C	18	62280447	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999979373632612	0.996
18	59947680	G	T	18	62280447	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99997221787945	0.98
18	59947681	T	A	18	62280448	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999389994381503	0.842
18	59947681	T	C	18	62280448	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998257255267642	0.972
18	59947681	T	G	18	62280448	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998276317250338	0.896
18	59947682	T	A	18	62280449	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00955329171058441	0.032
18	59947682	T	C	18	62280449	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00937152616034254	0.038
18	59947682	T	G	18	62280449	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00937152616034254	0.03
18	59947683	T	A	18	62280450	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.60637362650865E-4	0.082
18	59947683	T	C	18	62280450	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.47480053014676E-4	0.004
18	59947683	T	G	18	62280450	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00214859245872927	0.196
18	59947867	T	A	18	62280634	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.950541866529	0.69
18	59947867	T	C	18	62280634	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.52213577444203E-4	0.06
18	59947867	T	G	18	62280634	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.569921373357867	0.608
18	59947868	A	C	18	62280635	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.59901694539043E-5	0.006
18	59947868	A	G	18	62280635	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.97507742978203E-5	0.006
18	59947868	A	T	18	62280635	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.8043520678227E-4	0.17
18	59947869	A	C	18	62280636	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0422302010012361	0.284
18	59947869	A	G	18	62280636	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999475956181109	0.924
18	59947869	A	T	18	62280636	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.157166051160446	0.302
18	59947870	T	A	18	62280637	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993864966814253	0.82
18	59947870	T	C	18	62280637	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.123719412578048	0.288
18	59947870	T	G	18	62280637	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99993613830127	0.974
18	59947871	T	A	18	62280638	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.832260999840508	0.528
18	59947871	T	C	18	62280638	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00107585715354827	0.068
18	59947871	T	G	18	62280638	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.664585110046375	0.596
18	59947872	C	A	18	62280639	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00365475238589347	0.156
18	59947872	C	G	18	62280639	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00207240385633572	0.166
18	59947872	C	T	18	62280639	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.78451632890235E-5	0.002
18	59947873	T	A	18	62280640	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00822033943496976	0.298
18	59947873	T	C	18	62280640	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.35209915946582E-5	0.01
18	59947873	T	G	18	62280640	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0546117593817361	0.358
18	59947874	A	C	18	62280641	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.87056915422271E-4	0.01
18	59947874	A	G	18	62280641	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.74816065184312E-4	0.02
18	59947874	A	T	18	62280641	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.72819341307021E-4	0.026
18	59947875	A	C	18	62280642	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00109811805660344	0.036
18	59947875	A	G	18	62280642	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999683275228575	0.966
18	59947875	A	T	18	62280642	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00318790032434618	0.058
18	59947876	C	A	18	62280643	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999646803029768	0.876
18	59947876	C	G	18	62280643	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99942344766103	0.632
18	59947876	C	T	18	62280643	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0775055900152172	0.31
18	59947877	A	C	18	62280644	y	y	splicing	KIAA1468(NM_020854:exon24:c.3051-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3153-2A>C;ENST00000398130:exon24:c.3051-2A>C)	.	.	0.999986741007567	0.944
18	59947877	A	G	18	62280644	y	y	splicing	KIAA1468(NM_020854:exon24:c.3051-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3153-2A>G;ENST00000398130:exon24:c.3051-2A>G)	.	.	0.999986741007567	0.944
18	59947877	A	T	18	62280644	y	y	splicing	KIAA1468(NM_020854:exon24:c.3051-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3153-2A>T;ENST00000398130:exon24:c.3051-2A>T)	.	.	0.999986741007567	0.944
18	59947878	G	A	18	62280645	y	y	splicing	KIAA1468(NM_020854:exon24:c.3051-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3153-1G>A;ENST00000398130:exon24:c.3051-1G>A)	.	.	0.9999922696839	0.948
18	59947878	G	C	18	62280645	y	y	splicing	KIAA1468(NM_020854:exon24:c.3051-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3153-1G>C;ENST00000398130:exon24:c.3051-1G>C)	.	.	0.9999922696839	0.948
18	59947878	G	T	18	62280645	y	y	splicing	KIAA1468(NM_020854:exon24:c.3051-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3153-1G>T;ENST00000398130:exon24:c.3051-1G>T)	.	.	0.9999922696839	0.948
18	59947879	C	A	18	62280646	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.C3051A:p.F1017L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.C3051A:p.F1017L;	0.00782790804203354	0.106
18	59947879	C	G	18	62280646	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.C3051G:p.F1017L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.C3051G:p.F1017L;ENSG00000134444:ENST00000256858:exon25:c.C3153G:p.I1051M;	0.00991304141170934	0.13
18	59947879	C	T	18	62280646	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon24:c.C3051T:p.F1017F;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.C3051T:p.F1017F;ENSG00000134444:ENST00000256858:exon25:c.C3153T:p.I1051I;	0.0251021016260483	0.276
18	59947880	T	A	18	62280647	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.T3052A:p.S1018T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.T3052A:p.S1018T;ENSG00000134444:ENST00000256858:exon25:c.T3154A:p.S1052T;	0.855857876998464	0.398
18	59947880	T	C	18	62280647	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.T3052C:p.S1018P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.T3052C:p.S1018P;ENSG00000134444:ENST00000256858:exon25:c.T3154C:p.S1052P;	0.829712419632729	0.42
18	59947880	T	G	18	62280647	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.T3052G:p.S1018A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.T3052G:p.S1018A;ENSG00000134444:ENST00000256858:exon25:c.T3154G:p.S1052A;	0.835431049206099	0.392
18	59947940	G	A	18	62280707	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.G3112A:p.E1038K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.G3112A:p.E1038K;ENSG00000134444:ENST00000256858:exon25:c.G3214A:p.E1072K;	0.924934516644211	0.782
18	59947940	G	C	18	62280707	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.G3112C:p.E1038Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.G3112C:p.E1038Q;ENSG00000134444:ENST00000256858:exon25:c.G3214C:p.E1072Q;	0.914120050410648	0.78
18	59947940	G	T	18	62280707	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon24:c.G3112T:p.E1038X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon24:c.G3112T:p.E1038X;ENSG00000134444:ENST00000256858:exon25:c.G3214T:p.E1072X;	0.996151440223416	0.882
18	59947941	A	C	18	62280708	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.A3113C:p.E1038A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.A3113C:p.E1038A;ENSG00000134444:ENST00000256858:exon25:c.A3215C:p.E1072A;	0.999064192491742	0.966
18	59947941	A	G	18	62280708	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.A3113G:p.E1038G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.A3113G:p.E1038G;ENSG00000134444:ENST00000256858:exon25:c.A3215G:p.E1072G;	0.999949120785162	0.998
18	59947941	A	T	18	62280708	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.A3113T:p.E1038V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.A3113T:p.E1038V;ENSG00000134444:ENST00000256858:exon25:c.A3215T:p.E1072V;	0.999941230583043	1.0
18	59947942	G	A	18	62280709	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon24:c.G3114A:p.E1038E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.G3114A:p.E1038E;ENSG00000134444:ENST00000256858:exon25:c.G3216A:p.E1072E;	0.999910099354024	0.992
18	59947942	G	C	18	62280709	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.G3114C:p.E1038D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.G3114C:p.E1038D;ENSG00000134444:ENST00000256858:exon25:c.G3216C:p.E1072D;	0.999997723605816	1.0
18	59947942	G	T	18	62280709	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon24:c.G3114T:p.E1038D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon24:c.G3114T:p.E1038D;ENSG00000134444:ENST00000256858:exon25:c.G3216T:p.E1072D;	0.999987199464052	0.99
18	59947943	G	A	18	62280710	y	y	splicing	KIAA1468(NM_020854:exon24:c.3114+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3216+1G>A;ENST00000398130:exon24:c.3114+1G>A)	.	.	0.999986675681007	0.932
18	59947943	G	C	18	62280710	y	y	splicing	KIAA1468(NM_020854:exon24:c.3114+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3216+1G>C;ENST00000398130:exon24:c.3114+1G>C)	.	.	0.999986675681007	0.932
18	59947943	G	T	18	62280710	y	y	splicing	KIAA1468(NM_020854:exon24:c.3114+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3216+1G>T;ENST00000398130:exon24:c.3114+1G>T)	.	.	0.999986675681007	0.932
18	59947944	T	A	18	62280711	y	y	splicing	KIAA1468(NM_020854:exon24:c.3114+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3216+2T>A;ENST00000398130:exon24:c.3114+2T>A)	.	.	0.999988247793601	0.928
18	59947944	T	C	18	62280711	y	y	splicing	KIAA1468(NM_020854:exon24:c.3114+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3216+2T>C;ENST00000398130:exon24:c.3114+2T>C)	.	.	0.991245725732999	0.64
18	59947944	T	G	18	62280711	y	y	splicing	KIAA1468(NM_020854:exon24:c.3114+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon25:c.3216+2T>G;ENST00000398130:exon24:c.3114+2T>G)	.	.	0.999988247793601	0.926
18	59947945	A	C	18	62280712	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997571203821336	0.924
18	59947945	A	G	18	62280712	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.985570089743216	0.744
18	59947945	A	T	18	62280712	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997395372399222	0.904
18	59947946	G	A	18	62280713	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.34592747383874E-4	0.122
18	59947946	G	C	18	62280713	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.84370997192023E-4	0.076
18	59947946	G	T	18	62280713	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.44802956007153E-4	0.06
18	59947947	G	A	18	62280714	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99970718688566	0.944
18	59947947	G	C	18	62280714	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999872803837981	0.918
18	59947947	G	T	18	62280714	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999915089637955	0.946
18	59947948	A	C	18	62280715	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.92806087753241E-4	0.038
18	59947948	A	G	18	62280715	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.8441584280082E-5	0.006
18	59947948	A	T	18	62280715	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.156894505234E-4	0.01
18	59947949	A	C	18	62280716	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.57955096384892E-5	0.002
18	59947949	A	G	18	62280716	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.66788996267205E-5	0.0
18	59947949	A	T	18	62280716	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.66788996267205E-5	0.0
18	59947950	T	A	18	62280717	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00142140604677572	0.016
18	59947950	T	C	18	62280717	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00198732798230069	0.028
18	59947950	T	G	18	62280717	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00116705584805797	0.022
18	59949527	T	A	18	62282294	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999017691593843	0.802
18	59949527	T	C	18	62282294	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.716386898343463	0.462
18	59949527	T	G	18	62282294	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999913278094873	0.904
18	59949528	C	A	18	62282295	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00686541608035428	0.184
18	59949528	C	G	18	62282295	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00457154018812312	0.188
18	59949528	C	T	18	62282295	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.09766519892564E-4	0.06
18	59949529	C	A	18	62282296	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00149952631711707	0.252
18	59949529	C	G	18	62282296	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00153343384055012	0.226
18	59949529	C	T	18	62282296	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.43139816684137E-6	0.13
18	59949530	A	C	18	62282297	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.39448903834573E-5	0.19
18	59949530	A	G	18	62282297	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.42873570145872E-4	0.152
18	59949530	A	T	18	62282297	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.84564031496894E-5	0.206
18	59949531	A	C	18	62282298	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00146238075318356	0.04
18	59949531	A	G	18	62282298	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999433426005906	0.892
18	59949531	A	T	18	62282298	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00360246306557047	0.062
18	59949532	T	A	18	62282299	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.892786371094411	0.636
18	59949532	T	C	18	62282299	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00252683544318446	0.086
18	59949532	T	G	18	62282299	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999614514770607	0.932
18	59949533	T	A	18	62282300	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.987373350260472	0.704
18	59949533	T	C	18	62282300	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0880038442192003	0.172
18	59949533	T	G	18	62282300	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.992495012544568	0.714
18	59949534	T	A	18	62282301	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99783524567346	0.84
18	59949534	T	C	18	62282301	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.610289341567021	0.408
18	59949534	T	G	18	62282301	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995481131125022	0.842
18	59949535	T	A	18	62282302	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00851883295971536	0.054
18	59949535	T	C	18	62282302	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.53722957849271E-4	0.052
18	59949535	T	G	18	62282302	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00382150492797758	0.138
18	59949536	A	C	18	62282303	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.85847206599125E-4	0.066
18	59949536	A	G	18	62282303	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0662514093534052	0.262
18	59949536	A	T	18	62282303	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00131491354336654	0.036
18	59949537	A	C	18	62282304	y	y	splicing	KIAA1468(NM_020854:exon25:c.3115-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3217-2A>C;ENST00000398130:exon25:c.3115-2A>C)	.	.	0.999908539125455	0.874
18	59949537	A	G	18	62282304	y	y	splicing	KIAA1468(NM_020854:exon25:c.3115-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3217-2A>G;ENST00000398130:exon25:c.3115-2A>G)	.	.	0.999908539125455	0.874
18	59949537	A	T	18	62282304	y	y	splicing	KIAA1468(NM_020854:exon25:c.3115-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3217-2A>T;ENST00000398130:exon25:c.3115-2A>T)	.	.	0.999908539125455	0.876
18	59949538	G	A	18	62282305	y	y	splicing	KIAA1468(NM_020854:exon25:c.3115-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3217-1G>A;ENST00000398130:exon25:c.3115-1G>A)	.	.	0.999974043497117	0.876
18	59949538	G	C	18	62282305	y	y	splicing	KIAA1468(NM_020854:exon25:c.3115-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3217-1G>C;ENST00000398130:exon25:c.3115-1G>C)	.	.	0.999974043497117	0.876
18	59949538	G	T	18	62282305	y	y	splicing	KIAA1468(NM_020854:exon25:c.3115-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3217-1G>T;ENST00000398130:exon25:c.3115-1G>T)	.	.	0.999974043497117	0.876
18	59949539	T	A	18	62282306	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.T3115A:p.L1039M;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.T3115A:p.L1039M;ENSG00000134444:ENST00000256858:exon26:c.T3217A:p.L1073M;	4.72780191212912E-4	0.454
18	59949539	T	C	18	62282306	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon25:c.T3115C:p.L1039L;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.T3115C:p.L1039L;ENSG00000134444:ENST00000256858:exon26:c.T3217C:p.L1073L;	2.02423107089348E-4	0.106
18	59949539	T	G	18	62282306	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.T3115G:p.L1039V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.T3115G:p.L1039V;ENSG00000134444:ENST00000256858:exon26:c.T3217G:p.L1073V;	0.0012512673056688	0.4
18	59949540	T	A	18	62282307	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon25:c.T3116A:p.L1039X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon25:c.T3116A:p.L1039X;ENSG00000134444:ENST00000256858:exon26:c.T3218A:p.L1073X;	0.494135738944821	0.512
18	59949540	T	C	18	62282307	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.T3116C:p.L1039S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.T3116C:p.L1039S;ENSG00000134444:ENST00000256858:exon26:c.T3218C:p.L1073S;	0.361279353604445	0.438
18	59949540	T	G	18	62282307	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.T3116G:p.L1039W;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.T3116G:p.L1039W;ENSG00000134444:ENST00000256858:exon26:c.T3218G:p.L1073W;	0.380769334673297	0.412
18	59949675	A	C	18	62282442	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.A3251C:p.E1084A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.A3251C:p.E1084A;ENSG00000134444:ENST00000256858:exon26:c.A3353C:p.E1118A;	0.642206497180139	0.67
18	59949675	A	G	18	62282442	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.A3251G:p.E1084G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.A3251G:p.E1084G;ENSG00000134444:ENST00000256858:exon26:c.A3353G:p.E1118G;	0.217387649547822	0.41
18	59949675	A	T	18	62282442	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.A3251T:p.E1084V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.A3251T:p.E1084V;ENSG00000134444:ENST00000256858:exon26:c.A3353T:p.E1118V;	0.961764972519425	0.636
18	59949676	G	A	18	62282443	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon25:c.G3252A:p.E1084E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.G3252A:p.E1084E;ENSG00000134444:ENST00000256858:exon26:c.G3354A:p.E1118E;	4.34016659062824E-4	0.068
18	59949676	G	C	18	62282443	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.G3252C:p.E1084D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.G3252C:p.E1084D;ENSG00000134444:ENST00000256858:exon26:c.G3354C:p.E1118D;	5.75231095463059E-5	0.0
18	59949676	G	T	18	62282443	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.G3252T:p.E1084D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.G3252T:p.E1084D;ENSG00000134444:ENST00000256858:exon26:c.G3354T:p.E1118D;	6.9420367454909E-5	0.006
18	59949677	T	A	18	62282444	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.T3253A:p.F1085I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.T3253A:p.F1085I;ENSG00000134444:ENST00000256858:exon26:c.T3355A:p.F1119I;	0.704629765595659	0.72
18	59949677	T	C	18	62282444	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.T3253C:p.F1085L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.T3253C:p.F1085L;ENSG00000134444:ENST00000256858:exon26:c.T3355C:p.F1119L;	0.96441683156652	0.898
18	59949677	T	G	18	62282444	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon25:c.T3253G:p.F1085V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon25:c.T3253G:p.F1085V;ENSG00000134444:ENST00000256858:exon26:c.T3355G:p.F1119V;	0.105050726835771	0.27
18	59949678	G	A	18	62282445	y	y	splicing	KIAA1468(NM_020854:exon25:c.3253+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3355+1G>A;ENST00000398130:exon25:c.3253+1G>A)	.	.	0.999979023971766	0.938
18	59949678	G	C	18	62282445	y	y	splicing	KIAA1468(NM_020854:exon25:c.3253+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3355+1G>C;ENST00000398130:exon25:c.3253+1G>C)	.	.	0.999979023971766	0.938
18	59949678	G	T	18	62282445	y	y	splicing	KIAA1468(NM_020854:exon25:c.3253+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3355+1G>T;ENST00000398130:exon25:c.3253+1G>T)	.	.	0.999979023971766	0.938
18	59949679	T	A	18	62282446	y	y	splicing	KIAA1468(NM_020854:exon25:c.3253+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3355+2T>A;ENST00000398130:exon25:c.3253+2T>A)	.	.	0.999989917668626	0.928
18	59949679	T	C	18	62282446	y	y	splicing	KIAA1468(NM_020854:exon25:c.3253+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3355+2T>C;ENST00000398130:exon25:c.3253+2T>C)	.	.	0.993179459523591	0.644
18	59949679	T	G	18	62282446	y	y	splicing	KIAA1468(NM_020854:exon25:c.3253+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon26:c.3355+2T>G;ENST00000398130:exon25:c.3253+2T>G)	.	.	0.999989917668626	0.928
18	59949680	A	C	18	62282447	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999833157283523	0.946
18	59949680	A	G	18	62282447	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.91083147628753	0.562
18	59949680	A	T	18	62282447	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999851460663615	0.968
18	59949681	A	C	18	62282448	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998703375672574	0.924
18	59949681	A	G	18	62282448	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996303810903658	0.906
18	59949681	A	T	18	62282448	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99833869657855	0.914
18	59949682	G	A	18	62282449	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999982897968558	0.994
18	59949682	G	C	18	62282449	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999901477821756	0.95
18	59949682	G	T	18	62282449	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999983055654028	0.998
18	59949683	T	A	18	62282450	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.991858933736443	0.778
18	59949683	T	C	18	62282450	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995990666792943	0.914
18	59949683	T	G	18	62282450	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.995066858394086	0.89
18	59949684	T	A	18	62282451	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.10712635112781E-4	0.09
18	59949684	T	C	18	62282451	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.42840064603886E-4	0.116
18	59949684	T	G	18	62282451	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.51676977922192E-4	0.116
18	59949685	G	A	18	62282452	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.67262792041983E-5	0.0
18	59949685	G	C	18	62282452	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.65520637887263E-4	0.016
18	59949685	G	T	18	62282452	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.37687621806476E-5	0.0
18	59954572	T	A	18	62287339	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.35744934880483E-4	0.132
18	59954572	T	C	18	62287339	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.42298591142605E-4	0.012
18	59954572	T	G	18	62287339	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.2375026752759E-4	0.178
18	59954573	T	A	18	62287340	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.20908420690485E-4	0.118
18	59954573	T	C	18	62287340	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.00665210334955E-4	0.024
18	59954573	T	G	18	62287340	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.35163650095308E-4	0.078
18	59954574	C	A	18	62287341	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.66195453397153E-4	0.016
18	59954574	C	G	18	62287341	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.60748274086002E-5	0.008
18	59954574	C	T	18	62287341	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.69361860325126E-5	0.0
18	59954575	T	A	18	62287342	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998702791753955	0.938
18	59954575	T	C	18	62287342	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.36581118914047E-4	0.006
18	59954575	T	G	18	62287342	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.39140916841716E-4	0.184
18	59954576	G	A	18	62287343	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.8364676753916E-5	0.0
18	59954576	G	C	18	62287343	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.32316264835767E-5	0.0
18	59954576	G	T	18	62287343	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.32316264835767E-5	0.0
18	59954577	T	A	18	62287344	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00425371694194218	0.146
18	59954577	T	C	18	62287344	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.79933741261417E-4	0.01
18	59954577	T	G	18	62287344	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00107851349742446	0.094
18	59954578	T	A	18	62287345	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0726993381129428	0.304
18	59954578	T	C	18	62287345	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0029770757713539	0.05
18	59954578	T	G	18	62287345	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.04593456886197	0.26
18	59954579	T	A	18	62287346	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.306646899664979	0.542
18	59954579	T	C	18	62287346	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0315926618066991	0.12
18	59954579	T	G	18	62287346	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.230266620993111	0.516
18	59954580	T	A	18	62287347	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.3590151077306E-4	0.028
18	59954580	T	C	18	62287347	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.10611199464292E-4	0.0
18	59954580	T	G	18	62287347	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.47120182875737E-4	0.006
18	59954581	C	A	18	62287348	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.857092432246824	0.56
18	59954581	C	G	18	62287348	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999837643183955	0.948
18	59954581	C	T	18	62287348	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0752083663680895	0.268
18	59954582	A	C	18	62287349	y	y	splicing	KIAA1468(NM_020854:exon26:c.3254-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3356-2A>C;ENST00000398130:exon26:c.3254-2A>C)	.	.	0.999988247793601	0.93
18	59954582	A	G	18	62287349	y	y	splicing	KIAA1468(NM_020854:exon26:c.3254-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3356-2A>G;ENST00000398130:exon26:c.3254-2A>G)	.	.	0.999988247793601	0.93
18	59954582	A	T	18	62287349	y	y	splicing	KIAA1468(NM_020854:exon26:c.3254-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3356-2A>T;ENST00000398130:exon26:c.3254-2A>T)	.	.	0.999988247793601	0.93
18	59954583	G	A	18	62287350	y	y	splicing	KIAA1468(NM_020854:exon26:c.3254-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3356-1G>A;ENST00000398130:exon26:c.3254-1G>A)	.	.	0.999990361384395	0.938
18	59954583	G	C	18	62287350	y	y	splicing	KIAA1468(NM_020854:exon26:c.3254-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3356-1G>C;ENST00000398130:exon26:c.3254-1G>C)	.	.	0.999990361384395	0.938
18	59954583	G	T	18	62287350	y	y	splicing	KIAA1468(NM_020854:exon26:c.3254-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3356-1G>T;ENST00000398130:exon26:c.3254-1G>T)	.	.	0.999990361384395	0.938
18	59954584	T	A	18	62287351	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3254A:p.F1085Y;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3254A:p.F1085Y;ENSG00000134444:ENST00000256858:exon27:c.T3356A:p.F1119Y;	0.676482151470728	0.744
18	59954584	T	C	18	62287351	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3254C:p.F1085S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3254C:p.F1085S;ENSG00000134444:ENST00000256858:exon27:c.T3356C:p.F1119S;	0.924045802048319	0.7
18	59954584	T	G	18	62287351	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3254G:p.F1085C;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3254G:p.F1085C;ENSG00000134444:ENST00000256858:exon27:c.T3356G:p.F1119C;	0.725707061051842	0.624
18	59954585	T	A	18	62287352	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3255A:p.F1085L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3255A:p.F1085L;ENSG00000134444:ENST00000256858:exon27:c.T3357A:p.F1119L;	0.00846287802139923	0.148
18	59954585	T	C	18	62287352	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon26:c.T3255C:p.F1085F;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3255C:p.F1085F;ENSG00000134444:ENST00000256858:exon27:c.T3357C:p.F1119F;	0.00134389222072715	0.054
18	59954585	T	G	18	62287352	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3255G:p.F1085L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3255G:p.F1085L;ENSG00000134444:ENST00000256858:exon27:c.T3357G:p.F1119L;	0.00330116396558273	0.078
18	59954698	G	A	18	62287465	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.G3368A:p.C1123Y;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.G3368A:p.C1123Y;ENSG00000134444:ENST00000256858:exon27:c.G3470A:p.C1157Y;	0.964105964199277	.
18	59954698	G	C	18	62287465	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.G3368C:p.C1123S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.G3368C:p.C1123S;ENSG00000134444:ENST00000256858:exon27:c.G3470C:p.C1157S;	0.964334689674343	.
18	59954698	G	T	18	62287465	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.G3368T:p.C1123F;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.G3368T:p.C1123F;ENSG00000134444:ENST00000256858:exon27:c.G3470T:p.C1157F;	0.981708251797535	.
18	59954699	T	A	18	62287466	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon26:c.T3369A:p.C1123X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon26:c.T3369A:p.C1123X;ENSG00000134444:ENST00000256858:exon27:c.T3471A:p.C1157X;	0.0909264220124437	.
18	59954699	T	C	18	62287466	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon26:c.T3369C:p.C1123C;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3369C:p.C1123C;ENSG00000134444:ENST00000256858:exon27:c.T3471C:p.C1157C;	0.00305950729988464	.
18	59954699	T	G	18	62287466	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3369G:p.C1123W;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3369G:p.C1123W;ENSG00000134444:ENST00000256858:exon27:c.T3471G:p.C1157W;	0.104858947055556	.
18	59954700	T	A	18	62287467	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3370A:p.F1124I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3370A:p.F1124I;ENSG00000134444:ENST00000256858:exon27:c.T3472A:p.F1158I;	0.885571303979696	.
18	59954700	T	C	18	62287467	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3370C:p.F1124L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3370C:p.F1124L;ENSG00000134444:ENST00000256858:exon27:c.T3472C:p.F1158L;	0.878639144995618	.
18	59954700	T	G	18	62287467	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon26:c.T3370G:p.F1124V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon26:c.T3370G:p.F1124V;ENSG00000134444:ENST00000256858:exon27:c.T3472G:p.F1158V;	0.54271028135452	.
18	59954701	G	A	18	62287468	y	y	splicing	KIAA1468(NM_020854:exon26:c.3370+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3472+1G>A;ENST00000398130:exon26:c.3370+1G>A)	.	.	0.999980697831002	.
18	59954701	G	C	18	62287468	y	y	splicing	KIAA1468(NM_020854:exon26:c.3370+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3472+1G>C;ENST00000398130:exon26:c.3370+1G>C)	.	.	0.999980697831002	.
18	59954701	G	T	18	62287468	y	y	splicing	KIAA1468(NM_020854:exon26:c.3370+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3472+1G>T;ENST00000398130:exon26:c.3370+1G>T)	.	.	0.999980697831002	.
18	59954702	T	A	18	62287469	y	y	splicing	KIAA1468(NM_020854:exon26:c.3370+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3472+2T>A;ENST00000398130:exon26:c.3370+2T>A)	.	.	0.999914511980801	.
18	59954702	T	C	18	62287469	y	y	splicing	KIAA1468(NM_020854:exon26:c.3370+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3472+2T>C;ENST00000398130:exon26:c.3370+2T>C)	.	.	0.999158754185158	.
18	59954702	T	G	18	62287469	y	y	splicing	KIAA1468(NM_020854:exon26:c.3370+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon27:c.3472+2T>G;ENST00000398130:exon26:c.3370+2T>G)	.	.	0.999914511980801	.
18	59954703	A	C	18	62287470	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999885729409692	.
18	59954703	A	G	18	62287470	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.983957247306793	.
18	59954703	A	T	18	62287470	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999647304375696	.
18	59954704	T	A	18	62287471	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0968072368495863	.
18	59954704	T	C	18	62287471	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.645836519519512	.
18	59954704	T	G	18	62287471	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.188865838407221	.
18	59954705	C	A	18	62287472	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.662772536438349	.
18	59954705	C	G	18	62287472	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.194057473287096	.
18	59954705	C	T	18	62287472	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.775298645135704	.
18	59954706	C	A	18	62287473	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.678042411446496	.
18	59954706	C	G	18	62287473	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.279965495659797	.
18	59954706	C	T	18	62287473	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.467285577939258	.
18	59954707	T	A	18	62287474	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.58174459965835	.
18	59954707	T	C	18	62287474	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.412923438472596	.
18	59954707	T	G	18	62287474	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.368499527713246	.
18	59954708	T	A	18	62287475	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.443026558265681	.
18	59954708	T	C	18	62287475	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.298251798018248	.
18	59954708	T	G	18	62287475	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.431933117658809	.
18	59958764	C	A	18	62291531	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0377691672612957	0.238
18	59958764	C	G	18	62291531	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999390458048442	0.944
18	59958764	C	T	18	62291531	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0196457124323622	0.336
18	59958765	C	A	18	62291532	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.07699288826864E-4	0.202
18	59958765	C	G	18	62291532	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.25066026265345E-4	0.102
18	59958765	C	T	18	62291532	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.49429939218485E-6	0.18
18	59958766	T	A	18	62291533	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.612077854417257	0.67
18	59958766	T	C	18	62291533	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.50540348286787E-4	0.18
18	59958766	T	G	18	62291533	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.25265779478187	0.566
18	59958767	T	A	18	62291534	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999447416349699	0.898
18	59958767	T	C	18	62291534	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.81736076950362E-4	0.106
18	59958767	T	G	18	62291534	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.917493483133675	0.694
18	59958768	G	A	18	62291535	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.24421352439503E-4	0.05
18	59958768	G	C	18	62291535	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.27300669093474E-5	0.062
18	59958768	G	T	18	62291535	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.59984842672974E-5	0.068
18	59958769	T	A	18	62291536	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.975541069959943	0.606
18	59958769	T	C	18	62291536	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00382669523267789	0.1
18	59958769	T	G	18	62291536	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.966400474286838	0.608
18	59958770	C	A	18	62291537	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.80792518323437	0.508
18	59958770	C	G	18	62291537	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.727817110104517	0.494
18	59958770	C	T	18	62291537	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.28224391725604E-4	0.142
18	59958771	C	A	18	62291538	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0954847864823873	0.248
18	59958771	C	G	18	62291538	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.127852233466107	0.25
18	59958771	C	T	18	62291538	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0024017112647054	0.088
18	59958772	C	A	18	62291539	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.12609078423706E-5	0.04
18	59958772	C	G	18	62291539	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.10405399527629E-4	0.032
18	59958772	C	T	18	62291539	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.01696460699891E-4	0.07
18	59958773	A	C	18	62291540	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00102389763004241	0.044
18	59958773	A	G	18	62291540	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0681709467819098	0.234
18	59958773	A	T	18	62291540	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	9.95010889621829E-4	0.032
18	59958774	A	C	18	62291541	y	y	splicing	KIAA1468(NM_020854:exon27:c.3371-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3473-2A>C;ENST00000398130:exon27:c.3371-2A>C)	.	.	0.999914511980801	0.892
18	59958774	A	G	18	62291541	y	y	splicing	KIAA1468(NM_020854:exon27:c.3371-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3473-2A>G;ENST00000398130:exon27:c.3371-2A>G)	.	.	0.999914511980801	0.892
18	59958774	A	T	18	62291541	y	y	splicing	KIAA1468(NM_020854:exon27:c.3371-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3473-2A>T;ENST00000398130:exon27:c.3371-2A>T)	.	.	0.999914511980801	0.892
18	59958775	G	A	18	62291542	y	y	splicing	KIAA1468(NM_020854:exon27:c.3371-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3473-1G>A;ENST00000398130:exon27:c.3371-1G>A)	.	.	0.999974043497117	0.888
18	59958775	G	C	18	62291542	y	y	splicing	KIAA1468(NM_020854:exon27:c.3371-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3473-1G>C;ENST00000398130:exon27:c.3371-1G>C)	.	.	0.999974043497117	0.888
18	59958775	G	T	18	62291542	y	y	splicing	KIAA1468(NM_020854:exon27:c.3371-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3473-1G>T;ENST00000398130:exon27:c.3371-1G>T)	.	.	0.999974043497117	0.888
18	59958776	T	A	18	62291543	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.T3371A:p.F1124Y;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.T3371A:p.F1124Y;ENSG00000134444:ENST00000256858:exon28:c.T3473A:p.F1158Y;	0.00216044301498437	0.076
18	59958776	T	C	18	62291543	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.T3371C:p.F1124S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.T3371C:p.F1124S;ENSG00000134444:ENST00000256858:exon28:c.T3473C:p.F1158S;	0.688971479893211	0.586
18	59958776	T	G	18	62291543	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.T3371G:p.F1124C;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.T3371G:p.F1124C;ENSG00000134444:ENST00000256858:exon28:c.T3473G:p.F1158C;	0.600093047440779	0.61
18	59958777	C	A	18	62291544	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.C3372A:p.F1124L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.C3372A:p.F1124L;ENSG00000134444:ENST00000256858:exon28:c.C3474A:p.F1158L;	0.538508190114943	0.372
18	59958777	C	G	18	62291544	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.C3372G:p.F1124L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.C3372G:p.F1124L;ENSG00000134444:ENST00000256858:exon28:c.C3474G:p.F1158L;	0.121921825560593	0.426
18	59958777	C	T	18	62291544	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon27:c.C3372T:p.F1124F;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.C3372T:p.F1124F;ENSG00000134444:ENST00000256858:exon28:c.C3474T:p.F1158F;	0.00120693723841691	0.096
18	59958862	G	A	18	62291629	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.G3457A:p.E1153K;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.G3457A:p.E1153K;ENSG00000134444:ENST00000256858:exon28:c.G3559A:p.E1187K;	0.902241016826046	0.738
18	59958862	G	C	18	62291629	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.G3457C:p.E1153Q;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.G3457C:p.E1153Q;ENSG00000134444:ENST00000256858:exon28:c.G3559C:p.E1187Q;	0.729514974389788	0.584
18	59958862	G	T	18	62291629	y	y	exonic	KIAA1468	stopgain SNV	KIAA1468:NM_020854:exon27:c.G3457T:p.E1153X;	exonic	ENSG00000134444	stopgain SNV	ENSG00000134444:ENST00000398130:exon27:c.G3457T:p.E1153X;ENSG00000134444:ENST00000256858:exon28:c.G3559T:p.E1187X;	0.974936882999572	0.888
18	59958863	A	C	18	62291630	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.A3458C:p.E1153A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.A3458C:p.E1153A;ENSG00000134444:ENST00000256858:exon28:c.A3560C:p.E1187A;	0.999520121791045	0.972
18	59958863	A	G	18	62291630	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.A3458G:p.E1153G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.A3458G:p.E1153G;ENSG00000134444:ENST00000256858:exon28:c.A3560G:p.E1187G;	0.999914567399365	0.998
18	59958863	A	T	18	62291630	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.A3458T:p.E1153V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.A3458T:p.E1153V;ENSG00000134444:ENST00000256858:exon28:c.A3560T:p.E1187V;	0.999748148315762	0.996
18	59958864	G	A	18	62291631	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon27:c.G3459A:p.E1153E;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.G3459A:p.E1153E;ENSG00000134444:ENST00000256858:exon28:c.G3561A:p.E1187E;	0.999819341750426	0.992
18	59958864	G	C	18	62291631	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.G3459C:p.E1153D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.G3459C:p.E1153D;ENSG00000134444:ENST00000256858:exon28:c.G3561C:p.E1187D;	0.999995660437138	0.976
18	59958864	G	T	18	62291631	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon27:c.G3459T:p.E1153D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon27:c.G3459T:p.E1153D;ENSG00000134444:ENST00000256858:exon28:c.G3561T:p.E1187D;	0.999954216810572	0.99
18	59958865	G	A	18	62291632	y	y	splicing	KIAA1468(NM_020854:exon27:c.3459+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3561+1G>A;ENST00000398130:exon27:c.3459+1G>A)	.	.	0.999986675681007	0.932
18	59958865	G	C	18	62291632	y	y	splicing	KIAA1468(NM_020854:exon27:c.3459+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3561+1G>C;ENST00000398130:exon27:c.3459+1G>C)	.	.	0.999986675681007	0.932
18	59958865	G	T	18	62291632	y	y	splicing	KIAA1468(NM_020854:exon27:c.3459+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3561+1G>T;ENST00000398130:exon27:c.3459+1G>T)	.	.	0.999986675681007	0.932
18	59958866	T	A	18	62291633	y	y	splicing	KIAA1468(NM_020854:exon27:c.3459+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3561+2T>A;ENST00000398130:exon27:c.3459+2T>A)	.	.	0.999988247793601	0.928
18	59958866	T	C	18	62291633	y	y	splicing	KIAA1468(NM_020854:exon27:c.3459+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3561+2T>C;ENST00000398130:exon27:c.3459+2T>C)	.	.	0.99991520749976	0.864
18	59958866	T	G	18	62291633	y	y	splicing	KIAA1468(NM_020854:exon27:c.3459+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon28:c.3561+2T>G;ENST00000398130:exon27:c.3459+2T>G)	.	.	0.999988247793601	0.928
18	59958867	G	A	18	62291634	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.90255347117525E-5	0.004
18	59958867	G	C	18	62291634	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0426596208773744	0.482
18	59958867	G	T	18	62291634	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.243981889808963	0.438
18	59958868	A	C	18	62291635	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999625114366445	0.9
18	59958868	A	G	18	62291635	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999701550764992	0.932
18	59958868	A	T	18	62291635	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999843941862925	0.926
18	59958869	G	A	18	62291636	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999616072678208	0.902
18	59958869	G	C	18	62291636	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999622698444858	0.914
18	59958869	G	T	18	62291636	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999908903425633	0.866
18	59958870	C	A	18	62291637	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.91347946693578E-4	0.036
18	59958870	C	G	18	62291637	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.65381142792888E-4	0.032
18	59958870	C	T	18	62291637	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.98242527422602E-5	0.004
18	59958871	C	A	18	62291638	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.25933256446171E-4	0.006
18	59958871	C	G	18	62291638	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.52960061164823E-4	0.006
18	59958871	C	T	18	62291638	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.77731289414782E-4	0.004
18	59958872	A	C	18	62291639	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.30169702945991E-4	0.014
18	59958872	A	G	18	62291639	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.30169702945991E-4	0.01
18	59958872	A	T	18	62291639	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.95350005711566E-5	0.004
18	59966011	T	A	18	62298778	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993125752317537	0.794
18	59966011	T	C	18	62298778	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00338012501044935	0.096
18	59966011	T	G	18	62298778	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.951333971068946	0.664
18	59966012	T	A	18	62298779	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.998386720563369	0.886
18	59966012	T	C	18	62298779	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.65766901910152	0.394
18	59966012	T	G	18	62298779	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.992138291100328	0.802
18	59966013	T	A	18	62298780	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99455768336227	0.818
18	59966013	T	C	18	62298780	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00618112252334291	0.108
18	59966013	T	G	18	62298780	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.94917843172359	0.72
18	59966014	T	A	18	62298781	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.981292388900898	0.842
18	59966014	T	C	18	62298781	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00172049351679506	0.124
18	59966014	T	G	18	62298781	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.977457587049608	0.838
18	59966015	T	A	18	62298782	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0359703451381473	0.176
18	59966015	T	C	18	62298782	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.59301440682808E-4	0.02
18	59966015	T	G	18	62298782	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0186997281251725	0.204
18	59966016	T	A	18	62298783	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0535528433019258	0.3
18	59966016	T	C	18	62298783	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.72748796462738E-4	0.04
18	59966016	T	G	18	62298783	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00917161158686	0.174
18	59966017	A	C	18	62298784	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.75109112275056E-5	0.01
18	59966017	A	G	18	62298784	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.90356790567718E-5	0.018
18	59966017	A	T	18	62298784	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.04023291552127E-5	0.02
18	59966018	A	C	18	62298785	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.38180574560982E-5	0.01
18	59966018	A	G	18	62298785	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999934430366083	0.996
18	59966018	A	T	18	62298785	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.59237380646377E-5	0.034
18	59966019	T	A	18	62298786	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.03809488691378E-4	0.046
18	59966019	T	C	18	62298786	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.87777986816931E-4	0.052
18	59966019	T	G	18	62298786	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.9726569481636	0.802
18	59966020	C	A	18	62298787	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999896608256047	0.806
18	59966020	C	G	18	62298787	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999938175249353	0.868
18	59966020	C	T	18	62298787	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0899618754346369	0.158
18	59966021	A	C	18	62298788	y	y	splicing	KIAA1468(NM_020854:exon28:c.3460-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3562-2A>C;ENST00000398130:exon28:c.3460-2A>C)	.	.	0.999986741007567	0.936
18	59966021	A	G	18	62298788	y	y	splicing	KIAA1468(NM_020854:exon28:c.3460-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3562-2A>G;ENST00000398130:exon28:c.3460-2A>G)	.	.	0.999986741007567	0.936
18	59966021	A	T	18	62298788	y	y	splicing	KIAA1468(NM_020854:exon28:c.3460-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3562-2A>T;ENST00000398130:exon28:c.3460-2A>T)	.	.	0.999986741007567	0.936
18	59966022	G	A	18	62298789	y	y	splicing	KIAA1468(NM_020854:exon28:c.3460-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3562-1G>A;ENST00000398130:exon28:c.3460-1G>A)	.	.	0.999987670894945	0.94
18	59966022	G	C	18	62298789	y	y	splicing	KIAA1468(NM_020854:exon28:c.3460-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3562-1G>C;ENST00000398130:exon28:c.3460-1G>C)	.	.	0.999987670894945	0.94
18	59966022	G	T	18	62298789	y	y	splicing	KIAA1468(NM_020854:exon28:c.3460-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3562-1G>T;ENST00000398130:exon28:c.3460-1G>T)	.	.	0.999987670894945	0.94
18	59966023	G	A	18	62298790	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3460A:p.V1154I;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3460A:p.V1154I;ENSG00000134444:ENST00000256858:exon29:c.G3562A:p.V1188I;	0.999515333421645	0.928
18	59966023	G	C	18	62298790	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3460C:p.V1154L;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3460C:p.V1154L;ENSG00000134444:ENST00000256858:exon29:c.G3562C:p.V1188L;	0.99990647560518	0.988
18	59966023	G	T	18	62298790	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3460T:p.V1154F;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3460T:p.V1154F;ENSG00000134444:ENST00000256858:exon29:c.G3562T:p.V1188F;	0.999912937465044	0.992
18	59966024	T	A	18	62298791	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.T3461A:p.V1154D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.T3461A:p.V1154D;ENSG00000134444:ENST00000256858:exon29:c.T3563A:p.V1188D;	0.00911784545322563	0.124
18	59966024	T	C	18	62298791	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.T3461C:p.V1154A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.T3461C:p.V1154A;ENSG00000134444:ENST00000256858:exon29:c.T3563C:p.V1188A;	0.218630710624748	0.35
18	59966024	T	G	18	62298791	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.T3461G:p.V1154G;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.T3461G:p.V1154G;ENSG00000134444:ENST00000256858:exon29:c.T3563G:p.V1188G;	0.074349230765201	0.192
18	59966091	A	C	18	62298858	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.A3528C:p.Q1176H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.A3528C:p.Q1176H;ENSG00000134444:ENST00000256858:exon29:c.A3630C:p.Q1210H;	0.550146894265511	0.466
18	59966091	A	G	18	62298858	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon28:c.A3528G:p.Q1176Q;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.A3528G:p.Q1176Q;ENSG00000134444:ENST00000256858:exon29:c.A3630G:p.Q1210Q;	0.00548750660221438	0.132
18	59966091	A	T	18	62298858	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.A3528T:p.Q1176H;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.A3528T:p.Q1176H;ENSG00000134444:ENST00000256858:exon29:c.A3630T:p.Q1210H;	0.840527740875865	0.422
18	59966092	G	A	18	62298859	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3529A:p.G1177S;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3529A:p.G1177S;ENSG00000134444:ENST00000256858:exon29:c.G3631A:p.G1211S;	0.304831300872629	0.474
18	59966092	G	C	18	62298859	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3529C:p.G1177R;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3529C:p.G1177R;ENSG00000134444:ENST00000256858:exon29:c.G3631C:p.G1211R;	0.566030235761986	0.578
18	59966092	G	T	18	62298859	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3529T:p.G1177C;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3529T:p.G1177C;ENSG00000134444:ENST00000256858:exon29:c.G3631T:p.G1211C;	0.476141337314634	0.53
18	59966093	G	A	18	62298860	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3530A:p.G1177D;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3530A:p.G1177D;ENSG00000134444:ENST00000256858:exon29:c.G3632A:p.G1211D;	0.999985366505973	0.976
18	59966093	G	C	18	62298860	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3530C:p.G1177A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3530C:p.G1177A;ENSG00000134444:ENST00000256858:exon29:c.G3632C:p.G1211A;	0.999980491769251	0.982
18	59966093	G	T	18	62298860	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon28:c.G3530T:p.G1177V;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon28:c.G3530T:p.G1177V;ENSG00000134444:ENST00000256858:exon29:c.G3632T:p.G1211V;	0.999987383619488	1.0
18	59966094	G	A	18	62298861	y	y	splicing	KIAA1468(NM_020854:exon28:c.3530+1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3632+1G>A;ENST00000398130:exon28:c.3530+1G>A)	.	.	0.999989072007339	0.934
18	59966094	G	C	18	62298861	y	y	splicing	KIAA1468(NM_020854:exon28:c.3530+1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3632+1G>C;ENST00000398130:exon28:c.3530+1G>C)	.	.	0.999989072007339	0.934
18	59966094	G	T	18	62298861	y	y	splicing	KIAA1468(NM_020854:exon28:c.3530+1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3632+1G>T;ENST00000398130:exon28:c.3530+1G>T)	.	.	0.999989072007339	0.934
18	59966095	T	A	18	62298862	y	y	splicing	KIAA1468(NM_020854:exon28:c.3530+2T>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3632+2T>A;ENST00000398130:exon28:c.3530+2T>A)	.	.	0.999988247793601	0.93
18	59966095	T	C	18	62298862	y	y	splicing	KIAA1468(NM_020854:exon28:c.3530+2T>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3632+2T>C;ENST00000398130:exon28:c.3530+2T>C)	.	.	0.999897703382408	0.886
18	59966095	T	G	18	62298862	y	y	splicing	KIAA1468(NM_020854:exon28:c.3530+2T>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon29:c.3632+2T>G;ENST00000398130:exon28:c.3530+2T>G)	.	.	0.999988247793601	0.93
18	59966096	A	C	18	62298863	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999501307625511	0.914
18	59966096	A	G	18	62298863	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.518272733085219	0.492
18	59966096	A	T	18	62298863	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.999620714587888	0.874
18	59966097	A	C	18	62298864	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997384596005527	0.9
18	59966097	A	G	18	62298864	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.993136425676708	0.914
18	59966097	A	T	18	62298864	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997367857944427	0.888
18	59966098	G	A	18	62298865	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.992772030252197	0.844
18	59966098	G	C	18	62298865	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.99468769208785	0.826
18	59966098	G	T	18	62298865	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.996165833975405	0.78
18	59966099	A	C	18	62298866	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0145604076100545	0.102
18	59966099	A	G	18	62298866	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00315603481825545	0.022
18	59966099	A	T	18	62298866	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0016478904337518	0.016
18	59966100	C	A	18	62298867	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.09218706544067E-5	0.0
18	59966100	C	G	18	62298867	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.03126863255572E-5	0.0
18	59966100	C	T	18	62298867	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.03126863255572E-5	0.0
18	59966101	A	C	18	62298868	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.37221546761672E-4	0.002
18	59966101	A	G	18	62298868	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.43903814675916E-4	0.0
18	59966101	A	T	18	62298868	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.46095613822091E-5	0.01
18	59972635	T	A	18	62305402	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00134973298493226	0.228
18	59972635	T	C	18	62305402	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.89442910772779E-4	0.002
18	59972635	T	G	18	62305402	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	5.96010995592668E-4	0.176
18	59972636	T	A	18	62305403	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00937156956085345	0.312
18	59972636	T	C	18	62305403	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00486521902469238	0.056
18	59972636	T	G	18	62305403	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0222192680925549	0.202
18	59972637	T	A	18	62305404	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0126597905521351	0.286
18	59972637	T	C	18	62305404	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0012833977472075	0.058
18	59972637	T	G	18	62305404	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00338210473432655	0.318
18	59972638	C	A	18	62305405	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.69486328098037E-4	0.014
18	59972638	C	G	18	62305405	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.67017103916004E-4	0.024
18	59972638	C	T	18	62305405	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.24152659041891E-5	0.006
18	59972639	T	A	18	62305406	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00333067814074102	0.072
18	59972639	T	C	18	62305406	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	1.91674045358882E-4	0.008
18	59972639	T	G	18	62305406	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.90773962750727E-4	0.072
18	59972640	T	A	18	62305407	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00367768991361659	0.17
18	59972640	T	C	18	62305407	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	6.08497498380631E-4	0.02
18	59972640	T	G	18	62305407	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.37139571335548E-4	0.116
18	59972641	T	A	18	62305408	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.0140921614162483	0.092
18	59972641	T	C	18	62305408	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	7.87489475353096E-5	0.0
18	59972641	T	G	18	62305408	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00952338524612374	0.11
18	59972642	C	A	18	62305409	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00140200623155426	0.11
18	59972642	C	G	18	62305409	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00112387995650434	0.11
18	59972642	C	T	18	62305409	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	2.41236338460135E-5	0.004
18	59972643	C	A	18	62305410	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	4.95584053037584E-5	0.0
18	59972643	C	G	18	62305410	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.6163583817039E-5	0.0
18	59972643	C	T	18	62305410	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	8.33866154784154E-5	0.0
18	59972644	T	A	18	62305411	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.00232972345712391	0.17
18	59972644	T	C	18	62305411	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	3.35507727664547E-4	0.018
18	59972644	T	G	18	62305411	y	y	intronic	KIAA1468	.	.	intronic	ENSG00000134444	.	.	0.997242943777105	0.708
18	59972645	A	C	18	62305412	y	y	splicing	KIAA1468(NM_020854:exon29:c.3531-2A>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon30:c.3633-2A>C;ENST00000398130:exon29:c.3531-2A>C)	.	.	0.999992446697775	0.92
18	59972645	A	G	18	62305412	y	y	splicing	KIAA1468(NM_020854:exon29:c.3531-2A>G)	.	.	splicing	ENSG00000134444(ENST00000256858:exon30:c.3633-2A>G;ENST00000398130:exon29:c.3531-2A>G)	.	.	0.999992446697775	0.92
18	59972645	A	T	18	62305412	y	y	splicing	KIAA1468(NM_020854:exon29:c.3531-2A>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon30:c.3633-2A>T;ENST00000398130:exon29:c.3531-2A>T)	.	.	0.999992446697775	0.928
18	59972646	G	A	18	62305413	y	y	splicing	KIAA1468(NM_020854:exon29:c.3531-1G>A)	.	.	splicing	ENSG00000134444(ENST00000256858:exon30:c.3633-1G>A;ENST00000398130:exon29:c.3531-1G>A)	.	.	0.999988247793601	0.922
18	59972646	G	C	18	62305413	y	y	splicing	KIAA1468(NM_020854:exon29:c.3531-1G>C)	.	.	splicing	ENSG00000134444(ENST00000256858:exon30:c.3633-1G>C;ENST00000398130:exon29:c.3531-1G>C)	.	.	0.999988247793601	0.922
18	59972646	G	T	18	62305413	y	y	splicing	KIAA1468(NM_020854:exon29:c.3531-1G>T)	.	.	splicing	ENSG00000134444(ENST00000256858:exon30:c.3633-1G>T;ENST00000398130:exon29:c.3531-1G>T)	.	.	0.999988247793601	0.922
18	59972647	C	A	18	62305414	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon29:c.C3531A:p.G1177G;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon29:c.C3531A:p.G1177G;ENSG00000134444:ENST00000256858:exon30:c.C3633A:p.G1211G;	1.23222868630506E-4	0.012
18	59972647	C	G	18	62305414	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon29:c.C3531G:p.G1177G;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon29:c.C3531G:p.G1177G;ENSG00000134444:ENST00000256858:exon30:c.C3633G:p.G1211G;	4.07932724629382E-4	0.16
18	59972647	C	T	18	62305414	y	y	exonic	KIAA1468	synonymous SNV	KIAA1468:NM_020854:exon29:c.C3531T:p.G1177G;	exonic	ENSG00000134444	synonymous SNV	ENSG00000134444:ENST00000398130:exon29:c.C3531T:p.G1177G;ENSG00000134444:ENST00000256858:exon30:c.C3633T:p.G1211G;	0.00104787399693287	0.102
18	59972648	T	A	18	62305415	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon29:c.T3532A:p.S1178T;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon29:c.T3532A:p.S1178T;ENSG00000134444:ENST00000256858:exon30:c.T3634A:p.S1212T;	0.257517794998319	0.298
18	59972648	T	C	18	62305415	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon29:c.T3532C:p.S1178P;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon29:c.T3532C:p.S1178P;ENSG00000134444:ENST00000256858:exon30:c.T3634C:p.S1212P;	0.317870623302788	0.368
18	59972648	T	G	18	62305415	y	y	exonic	KIAA1468	nonsynonymous SNV	KIAA1468:NM_020854:exon29:c.T3532G:p.S1178A;	exonic	ENSG00000134444	nonsynonymous SNV	ENSG00000134444:ENST00000398130:exon29:c.T3532G:p.S1178A;ENSG00000134444:ENST00000256858:exon30:c.T3634G:p.S1212A;	0.308261450112636	0.346
18	59992658	C	A	18	62325425	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon1:c.C73A:p.Q25K;TNFRSF11A:NM_001270950:exon1:c.C73A:p.Q25K;TNFRSF11A:NM_003839:exon1:c.C73A:p.Q25K;TNFRSF11A:NM_001278268:exon1:c.C73A:p.Q25K;TNFRSF11A:NM_001270949:exon1:c.C73A:p.Q25K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon1:c.C73A:p.Q25K;ENSG00000141655:ENST00000269485:exon1:c.C73A:p.Q25K;	0.0976508675091023	0.464
18	59992658	C	G	18	62325425	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon1:c.C73G:p.Q25E;TNFRSF11A:NM_001270950:exon1:c.C73G:p.Q25E;TNFRSF11A:NM_003839:exon1:c.C73G:p.Q25E;TNFRSF11A:NM_001278268:exon1:c.C73G:p.Q25E;TNFRSF11A:NM_001270949:exon1:c.C73G:p.Q25E;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon1:c.C73G:p.Q25E;ENSG00000141655:ENST00000269485:exon1:c.C73G:p.Q25E;	0.0449735781034016	0.284
18	59992658	C	T	18	62325425	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_001270951:exon1:c.C73T:p.Q25X;TNFRSF11A:NM_001270950:exon1:c.C73T:p.Q25X;TNFRSF11A:NM_003839:exon1:c.C73T:p.Q25X;TNFRSF11A:NM_001278268:exon1:c.C73T:p.Q25X;TNFRSF11A:NM_001270949:exon1:c.C73T:p.Q25X;	exonic	ENSG00000141655	stopgain SNV	ENSG00000141655:ENST00000586569:exon1:c.C73T:p.Q25X;ENSG00000141655:ENST00000269485:exon1:c.C73T:p.Q25X;	0.896135814501391	0.534
18	59992659	A	C	18	62325426	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon1:c.A74C:p.Q25P;TNFRSF11A:NM_001270950:exon1:c.A74C:p.Q25P;TNFRSF11A:NM_003839:exon1:c.A74C:p.Q25P;TNFRSF11A:NM_001278268:exon1:c.A74C:p.Q25P;TNFRSF11A:NM_001270949:exon1:c.A74C:p.Q25P;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon1:c.A74C:p.Q25P;ENSG00000141655:ENST00000269485:exon1:c.A74C:p.Q25P;	0.958378476114611	0.796
18	59992659	A	G	18	62325426	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon1:c.A74G:p.Q25R;TNFRSF11A:NM_001270950:exon1:c.A74G:p.Q25R;TNFRSF11A:NM_003839:exon1:c.A74G:p.Q25R;TNFRSF11A:NM_001278268:exon1:c.A74G:p.Q25R;TNFRSF11A:NM_001270949:exon1:c.A74G:p.Q25R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon1:c.A74G:p.Q25R;ENSG00000141655:ENST00000269485:exon1:c.A74G:p.Q25R;	0.977837494045134	0.868
18	59992659	A	T	18	62325426	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon1:c.A74T:p.Q25L;TNFRSF11A:NM_001270950:exon1:c.A74T:p.Q25L;TNFRSF11A:NM_003839:exon1:c.A74T:p.Q25L;TNFRSF11A:NM_001278268:exon1:c.A74T:p.Q25L;TNFRSF11A:NM_001270949:exon1:c.A74T:p.Q25L;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon1:c.A74T:p.Q25L;ENSG00000141655:ENST00000269485:exon1:c.A74T:p.Q25L;	0.956888070489562	0.532
18	59992660	G	A	18	62325427	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon1:c.G75A:p.Q25Q;TNFRSF11A:NM_001270950:exon1:c.G75A:p.Q25Q;TNFRSF11A:NM_003839:exon1:c.G75A:p.Q25Q;TNFRSF11A:NM_001278268:exon1:c.G75A:p.Q25Q;TNFRSF11A:NM_001270949:exon1:c.G75A:p.Q25Q;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon1:c.G75A:p.Q25Q;ENSG00000141655:ENST00000269485:exon1:c.G75A:p.Q25Q;	0.994910068417426	0.922
18	59992660	G	C	18	62325427	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon1:c.G75C:p.Q25H;TNFRSF11A:NM_001270950:exon1:c.G75C:p.Q25H;TNFRSF11A:NM_003839:exon1:c.G75C:p.Q25H;TNFRSF11A:NM_001278268:exon1:c.G75C:p.Q25H;TNFRSF11A:NM_001270949:exon1:c.G75C:p.Q25H;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon1:c.G75C:p.Q25H;ENSG00000141655:ENST00000269485:exon1:c.G75C:p.Q25H;	0.999171266643938	0.944
18	59992660	G	T	18	62325427	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon1:c.G75T:p.Q25H;TNFRSF11A:NM_001270950:exon1:c.G75T:p.Q25H;TNFRSF11A:NM_003839:exon1:c.G75T:p.Q25H;TNFRSF11A:NM_001278268:exon1:c.G75T:p.Q25H;TNFRSF11A:NM_001270949:exon1:c.G75T:p.Q25H;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon1:c.G75T:p.Q25H;ENSG00000141655:ENST00000269485:exon1:c.G75T:p.Q25H;	0.99882461352553	0.948
18	59992661	G	A	18	62325428	y	y	splicing	TNFRSF11A(NM_001278268:exon1:c.75+1G>A;NM_001270951:exon1:c.75+1G>A;NM_001270950:exon1:c.75+1G>A;NM_001270949:exon1:c.75+1G>A;NM_003839:exon1:c.75+1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon1:c.75+1G>A;ENST00000586569:exon1:c.75+1G>A)	.	.	0.999967001206676	0.928
18	59992661	G	C	18	62325428	y	y	splicing	TNFRSF11A(NM_001278268:exon1:c.75+1G>C;NM_001270951:exon1:c.75+1G>C;NM_001270950:exon1:c.75+1G>C;NM_001270949:exon1:c.75+1G>C;NM_003839:exon1:c.75+1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon1:c.75+1G>C;ENST00000586569:exon1:c.75+1G>C)	.	.	0.999967001206676	0.938
18	59992661	G	T	18	62325428	y	y	splicing	TNFRSF11A(NM_001278268:exon1:c.75+1G>T;NM_001270951:exon1:c.75+1G>T;NM_001270950:exon1:c.75+1G>T;NM_001270949:exon1:c.75+1G>T;NM_003839:exon1:c.75+1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon1:c.75+1G>T;ENST00000586569:exon1:c.75+1G>T)	.	.	0.999967001206676	0.938
18	59992662	T	A	18	62325429	y	y	splicing	TNFRSF11A(NM_001278268:exon1:c.75+2T>A;NM_001270951:exon1:c.75+2T>A;NM_001270950:exon1:c.75+2T>A;NM_001270949:exon1:c.75+2T>A;NM_003839:exon1:c.75+2T>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon1:c.75+2T>A;ENST00000586569:exon1:c.75+2T>A)	.	.	0.999982676930816	0.938
18	59992662	T	C	18	62325429	y	y	splicing	TNFRSF11A(NM_001278268:exon1:c.75+2T>C;NM_001270951:exon1:c.75+2T>C;NM_001270950:exon1:c.75+2T>C;NM_001270949:exon1:c.75+2T>C;NM_003839:exon1:c.75+2T>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon1:c.75+2T>C;ENST00000586569:exon1:c.75+2T>C)	.	.	0.953272390084036	0.576
18	59992662	T	G	18	62325429	y	y	splicing	TNFRSF11A(NM_001278268:exon1:c.75+2T>G;NM_001270951:exon1:c.75+2T>G;NM_001270950:exon1:c.75+2T>G;NM_001270949:exon1:c.75+2T>G;NM_003839:exon1:c.75+2T>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon1:c.75+2T>G;ENST00000586569:exon1:c.75+2T>G)	.	.	0.999982676930816	0.944
18	59992663	A	C	18	62325430	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.996275995755826	0.874
18	59992663	A	G	18	62325430	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0593702207562458	0.142
18	59992663	A	T	18	62325430	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.994629612106166	0.866
18	59992664	A	C	18	62325431	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.759017009173336	0.522
18	59992664	A	G	18	62325431	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.968308441018858	0.608
18	59992664	A	T	18	62325431	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.810347120699877	0.548
18	59992665	G	A	18	62325432	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.967892920671432	0.708
18	59992665	G	C	18	62325432	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.680000277192032	0.562
18	59992665	G	T	18	62325432	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.967424749671748	0.68
18	59992666	G	A	18	62325433	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.47121248692959E-4	0.0
18	59992666	G	C	18	62325433	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.67588679805898E-4	0.014
18	59992666	G	T	18	62325433	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.05120212819012E-5	0.0
18	59992667	A	C	18	62325434	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.3881566575264E-4	0.002
18	59992667	A	G	18	62325434	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.11254543393266E-4	0.0
18	59992667	A	T	18	62325434	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.11254543393266E-4	0.058
18	59992668	G	A	18	62325435	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.57232846463769E-4	0.014
18	59992668	G	C	18	62325435	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.51344853113777E-4	0.046
18	59992668	G	T	18	62325435	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.29904572785179E-4	0.096
18	60015389	T	A	18	62348156	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.969781604136689	.
18	60015389	T	C	18	62348156	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.3803561843048E-5	.
18	60015389	T	G	18	62348156	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0248103918959969	.
18	60015390	G	A	18	62348157	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0145747557074337	.
18	60015390	G	C	18	62348157	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.12788793940444E-4	.
18	60015390	G	T	18	62348157	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.21316457126087E-4	.
18	60015391	T	A	18	62348158	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.980822091482313	.
18	60015391	T	C	18	62348158	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0396950912164193	.
18	60015391	T	G	18	62348158	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.952199100823948	.
18	60015392	T	A	18	62348159	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0554166857954274	.
18	60015392	T	C	18	62348159	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.6915699741338E-5	.
18	60015392	T	G	18	62348159	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00724002410907497	.
18	60015393	C	A	18	62348160	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00743132985377506	.
18	60015393	C	G	18	62348160	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00335783721668597	.
18	60015393	C	T	18	62348160	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.82907925060365E-4	.
18	60015394	T	A	18	62348161	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00390871747363411	.
18	60015394	T	C	18	62348161	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.54695292256413E-5	.
18	60015394	T	G	18	62348161	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00173776543134284	.
18	60015395	T	A	18	62348162	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.159726852859633	.
18	60015395	T	C	18	62348162	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.72109867749784E-4	.
18	60015395	T	G	18	62348162	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.200020768807108	.
18	60015396	T	A	18	62348163	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.323708531611215	.
18	60015396	T	C	18	62348163	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0135923192329289	.
18	60015396	T	G	18	62348163	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.822037131107091	.
18	60015397	T	A	18	62348164	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.59146061808514E-5	.
18	60015397	T	C	18	62348164	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.1494749988942E-5	.
18	60015397	T	G	18	62348164	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.0728072381745E-4	.
18	60015398	C	A	18	62348165	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.553781311752338	.
18	60015398	C	G	18	62348165	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999962059877277	.
18	60015398	C	T	18	62348165	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.163851888453363	.
18	60015399	A	C	18	62348166	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.76-2A>C;NM_001270951:exon2:c.76-2A>C;NM_001270950:exon2:c.76-2A>C;NM_001270949:exon2:c.76-2A>C;NM_003839:exon2:c.76-2A>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.76-2A>C;ENST00000586569:exon2:c.76-2A>C)	.	.	0.999965322197807	.
18	60015399	A	G	18	62348166	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.76-2A>G;NM_001270951:exon2:c.76-2A>G;NM_001270950:exon2:c.76-2A>G;NM_001270949:exon2:c.76-2A>G;NM_003839:exon2:c.76-2A>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.76-2A>G;ENST00000586569:exon2:c.76-2A>G)	.	.	0.999965322197807	.
18	60015399	A	T	18	62348166	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.76-2A>T;NM_001270951:exon2:c.76-2A>T;NM_001270950:exon2:c.76-2A>T;NM_001270949:exon2:c.76-2A>T;NM_003839:exon2:c.76-2A>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.76-2A>T;ENST00000586569:exon2:c.76-2A>T)	.	.	0.999965322197807	.
18	60015400	G	A	18	62348167	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.76-1G>A;NM_001270951:exon2:c.76-1G>A;NM_001270950:exon2:c.76-1G>A;NM_001270949:exon2:c.76-1G>A;NM_003839:exon2:c.76-1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.76-1G>A;ENST00000586569:exon2:c.76-1G>A)	.	.	0.999963247997021	.
18	60015400	G	C	18	62348167	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.76-1G>C;NM_001270951:exon2:c.76-1G>C;NM_001270950:exon2:c.76-1G>C;NM_001270949:exon2:c.76-1G>C;NM_003839:exon2:c.76-1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.76-1G>C;ENST00000586569:exon2:c.76-1G>C)	.	.	0.999963247997021	.
18	60015400	G	T	18	62348167	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.76-1G>T;NM_001270951:exon2:c.76-1G>T;NM_001270950:exon2:c.76-1G>T;NM_001270949:exon2:c.76-1G>T;NM_003839:exon2:c.76-1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.76-1G>T;ENST00000586569:exon2:c.76-1G>T)	.	.	0.999963247997021	.
18	60015401	G	A	18	62348168	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.G76A:p.V26M;TNFRSF11A:NM_001270950:exon2:c.G76A:p.V26M;TNFRSF11A:NM_003839:exon2:c.G76A:p.V26M;TNFRSF11A:NM_001278268:exon2:c.G76A:p.V26M;TNFRSF11A:NM_001270949:exon2:c.G76A:p.V26M;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.G76A:p.V26M;ENSG00000141655:ENST00000269485:exon2:c.G76A:p.V26M;	0.997385853416266	.
18	60015401	G	C	18	62348168	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.G76C:p.V26L;TNFRSF11A:NM_001270950:exon2:c.G76C:p.V26L;TNFRSF11A:NM_003839:exon2:c.G76C:p.V26L;TNFRSF11A:NM_001278268:exon2:c.G76C:p.V26L;TNFRSF11A:NM_001270949:exon2:c.G76C:p.V26L;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.G76C:p.V26L;ENSG00000141655:ENST00000269485:exon2:c.G76C:p.V26L;	0.87431882666689	.
18	60015401	G	T	18	62348168	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.G76T:p.V26L;TNFRSF11A:NM_001270950:exon2:c.G76T:p.V26L;TNFRSF11A:NM_003839:exon2:c.G76T:p.V26L;TNFRSF11A:NM_001278268:exon2:c.G76T:p.V26L;TNFRSF11A:NM_001270949:exon2:c.G76T:p.V26L;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.G76T:p.V26L;ENSG00000141655:ENST00000269485:exon2:c.G76T:p.V26L;	0.97047500745506	.
18	60015402	T	A	18	62348169	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.T77A:p.V26E;TNFRSF11A:NM_001270950:exon2:c.T77A:p.V26E;TNFRSF11A:NM_003839:exon2:c.T77A:p.V26E;TNFRSF11A:NM_001278268:exon2:c.T77A:p.V26E;TNFRSF11A:NM_001270949:exon2:c.T77A:p.V26E;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.T77A:p.V26E;ENSG00000141655:ENST00000269485:exon2:c.T77A:p.V26E;	0.00239932662183752	.
18	60015402	T	C	18	62348169	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.T77C:p.V26A;TNFRSF11A:NM_001270950:exon2:c.T77C:p.V26A;TNFRSF11A:NM_003839:exon2:c.T77C:p.V26A;TNFRSF11A:NM_001278268:exon2:c.T77C:p.V26A;TNFRSF11A:NM_001270949:exon2:c.T77C:p.V26A;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.T77C:p.V26A;ENSG00000141655:ENST00000269485:exon2:c.T77C:p.V26A;	0.00384644247474898	.
18	60015402	T	G	18	62348169	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.T77G:p.V26G;TNFRSF11A:NM_001270950:exon2:c.T77G:p.V26G;TNFRSF11A:NM_003839:exon2:c.T77G:p.V26G;TNFRSF11A:NM_001278268:exon2:c.T77G:p.V26G;TNFRSF11A:NM_001270949:exon2:c.T77G:p.V26G;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.T77G:p.V26G;ENSG00000141655:ENST00000269485:exon2:c.T77G:p.V26G;	0.00226321766359833	.
18	60015480	C	A	18	62348247	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.C155A:p.P52Q;TNFRSF11A:NM_001270950:exon2:c.C155A:p.P52Q;TNFRSF11A:NM_003839:exon2:c.C155A:p.P52Q;TNFRSF11A:NM_001278268:exon2:c.C155A:p.P52Q;TNFRSF11A:NM_001270949:exon2:c.C155A:p.P52Q;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.C155A:p.P52Q;ENSG00000141655:ENST00000269485:exon2:c.C155A:p.P52Q;	0.898352941635353	0.682
18	60015480	C	G	18	62348247	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.C155G:p.P52R;TNFRSF11A:NM_001270950:exon2:c.C155G:p.P52R;TNFRSF11A:NM_003839:exon2:c.C155G:p.P52R;TNFRSF11A:NM_001278268:exon2:c.C155G:p.P52R;TNFRSF11A:NM_001270949:exon2:c.C155G:p.P52R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.C155G:p.P52R;ENSG00000141655:ENST00000269485:exon2:c.C155G:p.P52R;	0.953260030027532	0.68
18	60015480	C	T	18	62348247	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.C155T:p.P52L;TNFRSF11A:NM_001270950:exon2:c.C155T:p.P52L;TNFRSF11A:NM_003839:exon2:c.C155T:p.P52L;TNFRSF11A:NM_001278268:exon2:c.C155T:p.P52L;TNFRSF11A:NM_001270949:exon2:c.C155T:p.P52L;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.C155T:p.P52L;ENSG00000141655:ENST00000269485:exon2:c.C155T:p.P52L;	0.999863054336656	0.986
18	60015481	A	C	18	62348248	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon2:c.A156C:p.P52P;TNFRSF11A:NM_001270950:exon2:c.A156C:p.P52P;TNFRSF11A:NM_003839:exon2:c.A156C:p.P52P;TNFRSF11A:NM_001278268:exon2:c.A156C:p.P52P;TNFRSF11A:NM_001270949:exon2:c.A156C:p.P52P;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.A156C:p.P52P;ENSG00000141655:ENST00000269485:exon2:c.A156C:p.P52P;	0.993528046063555	0.804
18	60015481	A	G	18	62348248	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon2:c.A156G:p.P52P;TNFRSF11A:NM_001270950:exon2:c.A156G:p.P52P;TNFRSF11A:NM_003839:exon2:c.A156G:p.P52P;TNFRSF11A:NM_001278268:exon2:c.A156G:p.P52P;TNFRSF11A:NM_001270949:exon2:c.A156G:p.P52P;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.A156G:p.P52P;ENSG00000141655:ENST00000269485:exon2:c.A156G:p.P52P;	0.992493695257648	0.868
18	60015481	A	T	18	62348248	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon2:c.A156T:p.P52P;TNFRSF11A:NM_001270950:exon2:c.A156T:p.P52P;TNFRSF11A:NM_003839:exon2:c.A156T:p.P52P;TNFRSF11A:NM_001278268:exon2:c.A156T:p.P52P;TNFRSF11A:NM_001270949:exon2:c.A156T:p.P52P;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.A156T:p.P52P;ENSG00000141655:ENST00000269485:exon2:c.A156T:p.P52P;	0.980790897380455	0.878
18	60015482	G	A	18	62348249	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.G157A:p.G53R;TNFRSF11A:NM_001270950:exon2:c.G157A:p.G53R;TNFRSF11A:NM_003839:exon2:c.G157A:p.G53R;TNFRSF11A:NM_001278268:exon2:c.G157A:p.G53R;TNFRSF11A:NM_001270949:exon2:c.G157A:p.G53R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.G157A:p.G53R;ENSG00000141655:ENST00000269485:exon2:c.G157A:p.G53R;	0.999992848648547	1.0
18	60015482	G	C	18	62348249	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon2:c.G157C:p.G53R;TNFRSF11A:NM_001270950:exon2:c.G157C:p.G53R;TNFRSF11A:NM_003839:exon2:c.G157C:p.G53R;TNFRSF11A:NM_001278268:exon2:c.G157C:p.G53R;TNFRSF11A:NM_001270949:exon2:c.G157C:p.G53R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon2:c.G157C:p.G53R;ENSG00000141655:ENST00000269485:exon2:c.G157C:p.G53R;	0.999997627706868	1.0
18	60015482	G	T	18	62348249	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_001270951:exon2:c.G157T:p.G53X;TNFRSF11A:NM_001270950:exon2:c.G157T:p.G53X;TNFRSF11A:NM_003839:exon2:c.G157T:p.G53X;TNFRSF11A:NM_001278268:exon2:c.G157T:p.G53X;TNFRSF11A:NM_001270949:exon2:c.G157T:p.G53X;	exonic	ENSG00000141655	stopgain SNV	ENSG00000141655:ENST00000586569:exon2:c.G157T:p.G53X;ENSG00000141655:ENST00000269485:exon2:c.G157T:p.G53X;	0.999993456460832	1.0
18	60015483	G	A	18	62348250	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.157+1G>A;NM_001270951:exon2:c.157+1G>A;NM_001270950:exon2:c.157+1G>A;NM_001270949:exon2:c.157+1G>A;NM_003839:exon2:c.157+1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.157+1G>A;ENST00000586569:exon2:c.157+1G>A)	.	.	0.999938422912956	0.956
18	60015483	G	C	18	62348250	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.157+1G>C;NM_001270951:exon2:c.157+1G>C;NM_001270950:exon2:c.157+1G>C;NM_001270949:exon2:c.157+1G>C;NM_003839:exon2:c.157+1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.157+1G>C;ENST00000586569:exon2:c.157+1G>C)	.	.	0.999938990645747	0.956
18	60015483	G	T	18	62348250	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.157+1G>T;NM_001270951:exon2:c.157+1G>T;NM_001270950:exon2:c.157+1G>T;NM_001270949:exon2:c.157+1G>T;NM_003839:exon2:c.157+1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.157+1G>T;ENST00000586569:exon2:c.157+1G>T)	.	.	0.999938422912956	0.956
18	60015484	T	A	18	62348251	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.157+2T>A;NM_001270951:exon2:c.157+2T>A;NM_001270950:exon2:c.157+2T>A;NM_001270949:exon2:c.157+2T>A;NM_003839:exon2:c.157+2T>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.157+2T>A;ENST00000586569:exon2:c.157+2T>A)	.	.	0.999966514958823	0.946
18	60015484	T	C	18	62348251	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.157+2T>C;NM_001270951:exon2:c.157+2T>C;NM_001270950:exon2:c.157+2T>C;NM_001270949:exon2:c.157+2T>C;NM_003839:exon2:c.157+2T>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.157+2T>C;ENST00000586569:exon2:c.157+2T>C)	.	.	0.967598199415038	0.604
18	60015484	T	G	18	62348251	y	y	splicing	TNFRSF11A(NM_001278268:exon2:c.157+2T>G;NM_001270951:exon2:c.157+2T>G;NM_001270950:exon2:c.157+2T>G;NM_001270949:exon2:c.157+2T>G;NM_003839:exon2:c.157+2T>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon2:c.157+2T>G;ENST00000586569:exon2:c.157+2T>G)	.	.	0.999966514958823	0.938
18	60015485	A	C	18	62348252	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999871307405135	0.792
18	60015485	A	G	18	62348252	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.952362777165535	0.626
18	60015485	A	T	18	62348252	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999871307405135	0.786
18	60015486	C	A	18	62348253	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.74057540690887E-5	0.102
18	60015486	C	G	18	62348253	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.98098589547153E-5	0.052
18	60015486	C	T	18	62348253	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.25377110201542E-5	0.032
18	60015487	A	C	18	62348254	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.25442943400668E-5	0.006
18	60015487	A	G	18	62348254	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	8.99497928928096E-5	0.012
18	60015487	A	T	18	62348254	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.01258552280178E-4	0.004
18	60015488	C	A	18	62348255	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.68493749944781E-4	0.0
18	60015488	C	G	18	62348255	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.14321256968703E-4	0.006
18	60015488	C	T	18	62348255	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.66483553534653E-5	0.0
18	60015489	C	A	18	62348256	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	8.14559567731368E-5	0.002
18	60015489	C	G	18	62348256	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.64179267191333E-5	0.0
18	60015489	C	T	18	62348256	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.00675832680685E-4	0.0
18	60015490	T	A	18	62348257	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.83750537723332E-5	0.0
18	60015490	T	C	18	62348257	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	6.02901318723123E-5	0.006
18	60015490	T	G	18	62348257	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.45992055671961E-5	0.0
18	60017033	C	A	18	62349800	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.55065340887264E-4	0.014
18	60017033	C	G	18	62349800	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.2228987555086E-4	0.032
18	60017033	C	T	18	62349800	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.02881803501023E-5	0.0
18	60017034	A	C	18	62349801	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.00003745549632E-5	0.002
18	60017034	A	G	18	62349801	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.60952863890888E-5	0.0
18	60017034	A	T	18	62349801	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.22475490568612E-4	0.132
18	60017035	T	A	18	62349802	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.73461341876203E-4	0.038
18	60017035	T	C	18	62349802	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.79902383834681E-5	0.0
18	60017035	T	G	18	62349802	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.947839548889211	0.732
18	60017036	T	A	18	62349803	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.90424698865787E-4	0.124
18	60017036	T	C	18	62349803	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.70324917222362E-4	0.02
18	60017036	T	G	18	62349803	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00133355691484798	0.108
18	60017037	T	A	18	62349804	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00348290603444328	0.124
18	60017037	T	C	18	62349804	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.71280559079328E-4	0.006
18	60017037	T	G	18	62349804	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.40267989490417E-4	0.19
18	60017038	T	A	18	62349805	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0756183144118983	0.19
18	60017038	T	C	18	62349805	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00181035921975045	0.04
18	60017038	T	G	18	62349805	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0546495808591124	0.18
18	60017039	T	A	18	62349806	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0231600840571218	0.12
18	60017039	T	C	18	62349806	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.14206087377747E-5	0.012
18	60017039	T	G	18	62349806	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0126893235301078	0.124
18	60017040	T	A	18	62349807	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00337177463653	0.196
18	60017040	T	C	18	62349807	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.49271087265458E-4	0.072
18	60017040	T	G	18	62349807	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0282329386329907	0.276
18	60017041	T	A	18	62349808	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.15931761314755E-5	0.032
18	60017041	T	C	18	62349808	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.29782377631742E-5	0.08
18	60017041	T	G	18	62349808	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.49906467597147E-5	0.05
18	60017042	A	C	18	62349809	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0012148772135723	0.096
18	60017042	A	G	18	62349809	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0890720179278285	0.244
18	60017042	A	T	18	62349809	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00179001857148356	0.006
18	60017043	A	C	18	62349810	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.158-2A>C;NM_001270951:exon3:c.158-2A>C;NM_001270950:exon3:c.158-2A>C;NM_001270949:exon3:c.158-2A>C;NM_003839:exon3:c.158-2A>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.158-2A>C;ENST00000586569:exon3:c.158-2A>C)	.	.	0.99996509239462	0.938
18	60017043	A	G	18	62349810	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.158-2A>G;NM_001270951:exon3:c.158-2A>G;NM_001270950:exon3:c.158-2A>G;NM_001270949:exon3:c.158-2A>G;NM_003839:exon3:c.158-2A>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.158-2A>G;ENST00000586569:exon3:c.158-2A>G)	.	.	0.99996509239462	0.944
18	60017043	A	T	18	62349810	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.158-2A>T;NM_001270951:exon3:c.158-2A>T;NM_001270950:exon3:c.158-2A>T;NM_001270949:exon3:c.158-2A>T;NM_003839:exon3:c.158-2A>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.158-2A>T;ENST00000586569:exon3:c.158-2A>T)	.	.	0.99996509239462	0.938
18	60017044	G	A	18	62349811	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.158-1G>A;NM_001270951:exon3:c.158-1G>A;NM_001270950:exon3:c.158-1G>A;NM_001270949:exon3:c.158-1G>A;NM_003839:exon3:c.158-1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.158-1G>A;ENST00000586569:exon3:c.158-1G>A)	.	.	0.999972482390482	0.938
18	60017044	G	C	18	62349811	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.158-1G>C;NM_001270951:exon3:c.158-1G>C;NM_001270950:exon3:c.158-1G>C;NM_001270949:exon3:c.158-1G>C;NM_003839:exon3:c.158-1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.158-1G>C;ENST00000586569:exon3:c.158-1G>C)	.	.	0.999972482390482	0.944
18	60017044	G	T	18	62349811	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.158-1G>T;NM_001270951:exon3:c.158-1G>T;NM_001270950:exon3:c.158-1G>T;NM_001270949:exon3:c.158-1G>T;NM_003839:exon3:c.158-1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.158-1G>T;ENST00000586569:exon3:c.158-1G>T)	.	.	0.999972482390482	0.938
18	60017045	G	A	18	62349812	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.G158A:p.G53E;TNFRSF11A:NM_001270950:exon3:c.G158A:p.G53E;TNFRSF11A:NM_003839:exon3:c.G158A:p.G53E;TNFRSF11A:NM_001278268:exon3:c.G158A:p.G53E;TNFRSF11A:NM_001270949:exon3:c.G158A:p.G53E;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.G158A:p.G53E;ENSG00000141655:ENST00000269485:exon3:c.G158A:p.G53E;	0.998884371687001	0.864
18	60017045	G	C	18	62349812	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.G158C:p.G53A;TNFRSF11A:NM_001270950:exon3:c.G158C:p.G53A;TNFRSF11A:NM_003839:exon3:c.G158C:p.G53A;TNFRSF11A:NM_001278268:exon3:c.G158C:p.G53A;TNFRSF11A:NM_001270949:exon3:c.G158C:p.G53A;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.G158C:p.G53A;ENSG00000141655:ENST00000269485:exon3:c.G158C:p.G53A;	0.999703393520023	0.95
18	60017045	G	T	18	62349812	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.G158T:p.G53V;TNFRSF11A:NM_001270950:exon3:c.G158T:p.G53V;TNFRSF11A:NM_003839:exon3:c.G158T:p.G53V;TNFRSF11A:NM_001278268:exon3:c.G158T:p.G53V;TNFRSF11A:NM_001270949:exon3:c.G158T:p.G53V;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.G158T:p.G53V;ENSG00000141655:ENST00000269485:exon3:c.G158T:p.G53V;	0.999803720479039	0.98
18	60017046	A	C	18	62349813	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon3:c.A159C:p.G53G;TNFRSF11A:NM_001270950:exon3:c.A159C:p.G53G;TNFRSF11A:NM_003839:exon3:c.A159C:p.G53G;TNFRSF11A:NM_001278268:exon3:c.A159C:p.G53G;TNFRSF11A:NM_001270949:exon3:c.A159C:p.G53G;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.A159C:p.G53G;ENSG00000141655:ENST00000269485:exon3:c.A159C:p.G53G;	2.72594166357523E-4	0.01
18	60017046	A	G	18	62349813	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon3:c.A159G:p.G53G;TNFRSF11A:NM_001270950:exon3:c.A159G:p.G53G;TNFRSF11A:NM_003839:exon3:c.A159G:p.G53G;TNFRSF11A:NM_001278268:exon3:c.A159G:p.G53G;TNFRSF11A:NM_001270949:exon3:c.A159G:p.G53G;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.A159G:p.G53G;ENSG00000141655:ENST00000269485:exon3:c.A159G:p.G53G;	2.24227382727528E-4	0.012
18	60017046	A	T	18	62349813	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon3:c.A159T:p.G53G;TNFRSF11A:NM_001270950:exon3:c.A159T:p.G53G;TNFRSF11A:NM_003839:exon3:c.A159T:p.G53G;TNFRSF11A:NM_001278268:exon3:c.A159T:p.G53G;TNFRSF11A:NM_001270949:exon3:c.A159T:p.G53G;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.A159T:p.G53G;ENSG00000141655:ENST00000269485:exon3:c.A159T:p.G53G;	1.08657679911782E-4	0.0
18	60017168	C	A	18	62349935	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.C281A:p.T94K;TNFRSF11A:NM_001270950:exon3:c.C281A:p.T94K;TNFRSF11A:NM_003839:exon3:c.C281A:p.T94K;TNFRSF11A:NM_001278268:exon3:c.C281A:p.T94K;TNFRSF11A:NM_001270949:exon3:c.C281A:p.T94K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.C281A:p.T94K;ENSG00000141655:ENST00000269485:exon3:c.C281A:p.T94K;	1.17187905734635E-4	0.026
18	60017168	C	G	18	62349935	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.C281G:p.T94R;TNFRSF11A:NM_001270950:exon3:c.C281G:p.T94R;TNFRSF11A:NM_003839:exon3:c.C281G:p.T94R;TNFRSF11A:NM_001278268:exon3:c.C281G:p.T94R;TNFRSF11A:NM_001270949:exon3:c.C281G:p.T94R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.C281G:p.T94R;ENSG00000141655:ENST00000269485:exon3:c.C281G:p.T94R;	3.77314942472436E-4	0.024
18	60017168	C	T	18	62349935	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.C281T:p.T94I;TNFRSF11A:NM_001270950:exon3:c.C281T:p.T94I;TNFRSF11A:NM_003839:exon3:c.C281T:p.T94I;TNFRSF11A:NM_001278268:exon3:c.C281T:p.T94I;TNFRSF11A:NM_001270949:exon3:c.C281T:p.T94I;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.C281T:p.T94I;ENSG00000141655:ENST00000269485:exon3:c.C281T:p.T94I;	0.0255628493253105	0.298
18	60017169	A	C	18	62349936	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon3:c.A282C:p.T94T;TNFRSF11A:NM_001270950:exon3:c.A282C:p.T94T;TNFRSF11A:NM_003839:exon3:c.A282C:p.T94T;TNFRSF11A:NM_001278268:exon3:c.A282C:p.T94T;TNFRSF11A:NM_001270949:exon3:c.A282C:p.T94T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.A282C:p.T94T;ENSG00000141655:ENST00000269485:exon3:c.A282C:p.T94T;	0.152404532147608	0.434
18	60017169	A	G	18	62349936	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon3:c.A282G:p.T94T;TNFRSF11A:NM_001270950:exon3:c.A282G:p.T94T;TNFRSF11A:NM_003839:exon3:c.A282G:p.T94T;TNFRSF11A:NM_001278268:exon3:c.A282G:p.T94T;TNFRSF11A:NM_001270949:exon3:c.A282G:p.T94T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.A282G:p.T94T;ENSG00000141655:ENST00000269485:exon3:c.A282G:p.T94T;	0.0999056269457922	0.362
18	60017169	A	T	18	62349936	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon3:c.A282T:p.T94T;TNFRSF11A:NM_001270950:exon3:c.A282T:p.T94T;TNFRSF11A:NM_003839:exon3:c.A282T:p.T94T;TNFRSF11A:NM_001278268:exon3:c.A282T:p.T94T;TNFRSF11A:NM_001270949:exon3:c.A282T:p.T94T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.A282T:p.T94T;ENSG00000141655:ENST00000269485:exon3:c.A282T:p.T94T;	0.08222137651595	0.418
18	60017170	G	A	18	62349937	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.G283A:p.G95S;TNFRSF11A:NM_001270950:exon3:c.G283A:p.G95S;TNFRSF11A:NM_003839:exon3:c.G283A:p.G95S;TNFRSF11A:NM_001278268:exon3:c.G283A:p.G95S;TNFRSF11A:NM_001270949:exon3:c.G283A:p.G95S;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.G283A:p.G95S;ENSG00000141655:ENST00000269485:exon3:c.G283A:p.G95S;	0.999961581970024	0.97
18	60017170	G	C	18	62349937	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.G283C:p.G95R;TNFRSF11A:NM_001270950:exon3:c.G283C:p.G95R;TNFRSF11A:NM_003839:exon3:c.G283C:p.G95R;TNFRSF11A:NM_001278268:exon3:c.G283C:p.G95R;TNFRSF11A:NM_001270949:exon3:c.G283C:p.G95R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.G283C:p.G95R;ENSG00000141655:ENST00000269485:exon3:c.G283C:p.G95R;	0.999990942727098	0.99
18	60017170	G	T	18	62349937	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon3:c.G283T:p.G95C;TNFRSF11A:NM_001270950:exon3:c.G283T:p.G95C;TNFRSF11A:NM_003839:exon3:c.G283T:p.G95C;TNFRSF11A:NM_001278268:exon3:c.G283T:p.G95C;TNFRSF11A:NM_001270949:exon3:c.G283T:p.G95C;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon3:c.G283T:p.G95C;ENSG00000141655:ENST00000269485:exon3:c.G283T:p.G95C;	0.999942982484071	0.99
18	60017171	G	A	18	62349938	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.283+1G>A;NM_001270951:exon3:c.283+1G>A;NM_001270950:exon3:c.283+1G>A;NM_001270949:exon3:c.283+1G>A;NM_003839:exon3:c.283+1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.283+1G>A;ENST00000586569:exon3:c.283+1G>A)	.	.	0.999988247793601	0.922
18	60017171	G	C	18	62349938	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.283+1G>C;NM_001270951:exon3:c.283+1G>C;NM_001270950:exon3:c.283+1G>C;NM_001270949:exon3:c.283+1G>C;NM_003839:exon3:c.283+1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.283+1G>C;ENST00000586569:exon3:c.283+1G>C)	.	.	0.999988247793601	0.922
18	60017171	G	T	18	62349938	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.283+1G>T;NM_001270951:exon3:c.283+1G>T;NM_001270950:exon3:c.283+1G>T;NM_001270949:exon3:c.283+1G>T;NM_003839:exon3:c.283+1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.283+1G>T;ENST00000586569:exon3:c.283+1G>T)	.	.	0.999988247793601	0.922
18	60017172	T	A	18	62349939	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.283+2T>A;NM_001270951:exon3:c.283+2T>A;NM_001270950:exon3:c.283+2T>A;NM_001270949:exon3:c.283+2T>A;NM_003839:exon3:c.283+2T>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.283+2T>A;ENST00000586569:exon3:c.283+2T>A)	.	.	0.999992446697775	0.928
18	60017172	T	C	18	62349939	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.283+2T>C;NM_001270951:exon3:c.283+2T>C;NM_001270950:exon3:c.283+2T>C;NM_001270949:exon3:c.283+2T>C;NM_003839:exon3:c.283+2T>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.283+2T>C;ENST00000586569:exon3:c.283+2T>C)	.	.	0.999951700573546	0.856
18	60017172	T	G	18	62349939	y	y	splicing	TNFRSF11A(NM_001278268:exon3:c.283+2T>G;NM_001270951:exon3:c.283+2T>G;NM_001270950:exon3:c.283+2T>G;NM_001270949:exon3:c.283+2T>G;NM_003839:exon3:c.283+2T>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon3:c.283+2T>G;ENST00000586569:exon3:c.283+2T>G)	.	.	0.999992446697775	0.926
18	60017173	G	A	18	62349940	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.3325105687297E-5	0.002
18	60017173	G	C	18	62349940	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0174420794119	0.178
18	60017173	G	T	18	62349940	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.101604269638098	0.29
18	60017174	A	C	18	62349941	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.472218891800381	0.362
18	60017174	A	G	18	62349941	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.807062105432917	0.476
18	60017174	A	T	18	62349941	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.937591739641537	0.464
18	60017175	G	A	18	62349942	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.995715337193795	0.886
18	60017175	G	C	18	62349942	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.99027683947131	0.844
18	60017175	G	T	18	62349942	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.996970897931301	0.842
18	60017176	C	A	18	62349943	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.13246320105222E-4	0.002
18	60017176	C	G	18	62349943	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.76533303176527E-5	0.03
18	60017176	C	T	18	62349943	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.75430970672854E-6	0.0
18	60017177	C	A	18	62349944	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.83421527981416E-5	0.0
18	60017177	C	G	18	62349944	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.50896685644909E-5	0.0
18	60017177	C	T	18	62349944	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.68493855661294E-5	0.004
18	60017178	C	A	18	62349945	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.24487870456941E-5	0.052
18	60017178	C	G	18	62349945	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.00720376625508E-5	0.002
18	60017178	C	T	18	62349945	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.00720376625508E-5	0.0
18	60021612	T	A	18	62354379	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999772876525961	0.934
18	60021612	T	C	18	62354379	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.220709381514699	0.418
18	60021612	T	G	18	62354379	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.47701028044332	0.548
18	60021613	G	A	18	62354380	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.92883026842557E-4	0.19
18	60021613	G	C	18	62354380	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.54053171194955E-4	0.122
18	60021613	G	T	18	62354380	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.56487312121058E-4	0.206
18	60021614	T	A	18	62354381	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.699556931062794	0.576
18	60021614	T	C	18	62354381	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.229663519428807	0.474
18	60021614	T	G	18	62354381	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.580197737553879	0.576
18	60021615	C	A	18	62354382	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00797847971141949	0.11
18	60021615	C	G	18	62354382	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00558257879576274	0.09
18	60021615	C	T	18	62354382	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0113568373697718	0.224
18	60021616	T	A	18	62354383	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.83866339007787E-4	0.07
18	60021616	T	C	18	62354383	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.98461950580903E-4	0.01
18	60021616	T	G	18	62354383	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.74260717567114E-4	0.05
18	60021617	C	A	18	62354384	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00436906379824235	0.134
18	60021617	C	G	18	62354384	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00344283392578841	0.126
18	60021617	C	T	18	62354384	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.04959428105633E-4	0.024
18	60021618	C	A	18	62354385	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.175735118058973	0.372
18	60021618	C	G	18	62354385	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.152373929446858	0.392
18	60021618	C	T	18	62354385	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00263395666076122	0.062
18	60021619	C	A	18	62354386	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.996171787151841	0.756
18	60021619	C	G	18	62354386	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00178652689671025	0.042
18	60021619	C	T	18	62354386	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	8.64548932417576E-5	0.018
18	60021620	G	A	18	62354387	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.95310442430127E-5	0.0
18	60021620	G	C	18	62354387	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.27783769988764E-5	0.006
18	60021620	G	T	18	62354387	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.13429321226302E-5	0.008
18	60021621	C	A	18	62354388	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.996372555961642	0.886
18	60021621	C	G	18	62354388	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999942577152422	0.986
18	60021621	C	T	18	62354388	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.649366291888023	0.264
18	60021622	A	C	18	62354389	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.284-2A>C;NM_001270951:exon4:c.284-2A>C;NM_001270950:exon4:c.284-2A>C;NM_001270949:exon4:c.284-2A>C;NM_003839:exon4:c.284-2A>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.284-2A>C;ENST00000586569:exon4:c.284-2A>C)	.	.	0.999989917668626	0.928
18	60021622	A	G	18	62354389	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.284-2A>G;NM_001270951:exon4:c.284-2A>G;NM_001270950:exon4:c.284-2A>G;NM_001270949:exon4:c.284-2A>G;NM_003839:exon4:c.284-2A>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.284-2A>G;ENST00000586569:exon4:c.284-2A>G)	.	.	0.999989917668626	0.928
18	60021622	A	T	18	62354389	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.284-2A>T;NM_001270951:exon4:c.284-2A>T;NM_001270950:exon4:c.284-2A>T;NM_001270949:exon4:c.284-2A>T;NM_003839:exon4:c.284-2A>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.284-2A>T;ENST00000586569:exon4:c.284-2A>T)	.	.	0.999989917668626	0.928
18	60021623	G	A	18	62354390	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.284-1G>A;NM_001270951:exon4:c.284-1G>A;NM_001270950:exon4:c.284-1G>A;NM_001270949:exon4:c.284-1G>A;NM_003839:exon4:c.284-1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.284-1G>A;ENST00000586569:exon4:c.284-1G>A)	.	.	0.999981760802075	0.944
18	60021623	G	C	18	62354390	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.284-1G>C;NM_001270951:exon4:c.284-1G>C;NM_001270950:exon4:c.284-1G>C;NM_001270949:exon4:c.284-1G>C;NM_003839:exon4:c.284-1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.284-1G>C;ENST00000586569:exon4:c.284-1G>C)	.	.	0.999981760802075	0.944
18	60021623	G	T	18	62354390	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.284-1G>T;NM_001270951:exon4:c.284-1G>T;NM_001270950:exon4:c.284-1G>T;NM_001270949:exon4:c.284-1G>T;NM_003839:exon4:c.284-1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.284-1G>T;ENST00000586569:exon4:c.284-1G>T)	.	.	0.999981760802075	0.944
18	60021624	G	A	18	62354391	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon4:c.G284A:p.G95D;TNFRSF11A:NM_001270950:exon4:c.G284A:p.G95D;TNFRSF11A:NM_003839:exon4:c.G284A:p.G95D;TNFRSF11A:NM_001278268:exon4:c.G284A:p.G95D;TNFRSF11A:NM_001270949:exon4:c.G284A:p.G95D;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.G284A:p.G95D;ENSG00000141655:ENST00000269485:exon4:c.G284A:p.G95D;	0.993906204267271	0.756
18	60021624	G	C	18	62354391	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon4:c.G284C:p.G95A;TNFRSF11A:NM_001270950:exon4:c.G284C:p.G95A;TNFRSF11A:NM_003839:exon4:c.G284C:p.G95A;TNFRSF11A:NM_001278268:exon4:c.G284C:p.G95A;TNFRSF11A:NM_001270949:exon4:c.G284C:p.G95A;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.G284C:p.G95A;ENSG00000141655:ENST00000269485:exon4:c.G284C:p.G95A;	0.999414353612957	0.896
18	60021624	G	T	18	62354391	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon4:c.G284T:p.G95V;TNFRSF11A:NM_001270950:exon4:c.G284T:p.G95V;TNFRSF11A:NM_003839:exon4:c.G284T:p.G95V;TNFRSF11A:NM_001278268:exon4:c.G284T:p.G95V;TNFRSF11A:NM_001270949:exon4:c.G284T:p.G95V;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.G284T:p.G95V;ENSG00000141655:ENST00000269485:exon4:c.G284T:p.G95V;	0.99967143952012	0.936
18	60021625	C	A	18	62354392	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon4:c.C285A:p.G95G;TNFRSF11A:NM_001270950:exon4:c.C285A:p.G95G;TNFRSF11A:NM_003839:exon4:c.C285A:p.G95G;TNFRSF11A:NM_001278268:exon4:c.C285A:p.G95G;TNFRSF11A:NM_001270949:exon4:c.C285A:p.G95G;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.C285A:p.G95G;ENSG00000141655:ENST00000269485:exon4:c.C285A:p.G95G;	7.12497413918806E-5	0.004
18	60021625	C	G	18	62354392	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon4:c.C285G:p.G95G;TNFRSF11A:NM_001270950:exon4:c.C285G:p.G95G;TNFRSF11A:NM_003839:exon4:c.C285G:p.G95G;TNFRSF11A:NM_001278268:exon4:c.C285G:p.G95G;TNFRSF11A:NM_001270949:exon4:c.C285G:p.G95G;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.C285G:p.G95G;ENSG00000141655:ENST00000269485:exon4:c.C285G:p.G95G;	1.25285343926376E-4	0.02
18	60021625	C	T	18	62354392	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon4:c.C285T:p.G95G;TNFRSF11A:NM_001270950:exon4:c.C285T:p.G95G;TNFRSF11A:NM_003839:exon4:c.C285T:p.G95G;TNFRSF11A:NM_001278268:exon4:c.C285T:p.G95G;TNFRSF11A:NM_001270949:exon4:c.C285T:p.G95G;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.C285T:p.G95G;ENSG00000141655:ENST00000269485:exon4:c.C285T:p.G95G;	8.81891739211425E-5	0.0
18	60021765	C	A	18	62354532	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon4:c.C425A:p.P142Q;TNFRSF11A:NM_001270950:exon4:c.C425A:p.P142Q;TNFRSF11A:NM_003839:exon4:c.C425A:p.P142Q;TNFRSF11A:NM_001278268:exon4:c.C425A:p.P142Q;TNFRSF11A:NM_001270949:exon4:c.C425A:p.P142Q;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.C425A:p.P142Q;ENSG00000141655:ENST00000269485:exon4:c.C425A:p.P142Q;	0.84786434475849	0.67
18	60021765	C	G	18	62354532	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon4:c.C425G:p.P142R;TNFRSF11A:NM_001270950:exon4:c.C425G:p.P142R;TNFRSF11A:NM_003839:exon4:c.C425G:p.P142R;TNFRSF11A:NM_001278268:exon4:c.C425G:p.P142R;TNFRSF11A:NM_001270949:exon4:c.C425G:p.P142R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.C425G:p.P142R;ENSG00000141655:ENST00000269485:exon4:c.C425G:p.P142R;	0.977035636920621	0.688
18	60021765	C	T	18	62354532	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon4:c.C425T:p.P142L;TNFRSF11A:NM_001270950:exon4:c.C425T:p.P142L;TNFRSF11A:NM_003839:exon4:c.C425T:p.P142L;TNFRSF11A:NM_001278268:exon4:c.C425T:p.P142L;TNFRSF11A:NM_001270949:exon4:c.C425T:p.P142L;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.C425T:p.P142L;ENSG00000141655:ENST00000269485:exon4:c.C425T:p.P142L;	0.999402754999903	0.918
18	60021766	G	A	18	62354533	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon4:c.G426A:p.P142P;TNFRSF11A:NM_001270950:exon4:c.G426A:p.P142P;TNFRSF11A:NM_003839:exon4:c.G426A:p.P142P;TNFRSF11A:NM_001278268:exon4:c.G426A:p.P142P;TNFRSF11A:NM_001270949:exon4:c.G426A:p.P142P;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.G426A:p.P142P;ENSG00000141655:ENST00000269485:exon4:c.G426A:p.P142P;	6.87512861961484E-4	0.138
18	60021766	G	C	18	62354533	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon4:c.G426C:p.P142P;TNFRSF11A:NM_001270950:exon4:c.G426C:p.P142P;TNFRSF11A:NM_003839:exon4:c.G426C:p.P142P;TNFRSF11A:NM_001278268:exon4:c.G426C:p.P142P;TNFRSF11A:NM_001270949:exon4:c.G426C:p.P142P;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.G426C:p.P142P;ENSG00000141655:ENST00000269485:exon4:c.G426C:p.P142P;	4.06963094165048E-4	0.078
18	60021766	G	T	18	62354533	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon4:c.G426T:p.P142P;TNFRSF11A:NM_001270950:exon4:c.G426T:p.P142P;TNFRSF11A:NM_003839:exon4:c.G426T:p.P142P;TNFRSF11A:NM_001278268:exon4:c.G426T:p.P142P;TNFRSF11A:NM_001270949:exon4:c.G426T:p.P142P;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.G426T:p.P142P;ENSG00000141655:ENST00000269485:exon4:c.G426T:p.P142P;	6.87739350359717E-4	0.058
18	60021767	T	A	18	62354534	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon4:c.T427A:p.L143M;TNFRSF11A:NM_001270950:exon4:c.T427A:p.L143M;TNFRSF11A:NM_003839:exon4:c.T427A:p.L143M;TNFRSF11A:NM_001278268:exon4:c.T427A:p.C143S;TNFRSF11A:NM_001270949:exon4:c.T427A:p.L143M;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.T427A:p.L143M;ENSG00000141655:ENST00000269485:exon4:c.T427A:p.L143M;	8.53078441846045E-5	0.174
18	60021767	T	C	18	62354534	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001278268:exon4:c.T427C:p.C143R;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.T427C:p.L143L;ENSG00000141655:ENST00000269485:exon4:c.T427C:p.L143L;	2.26093325132505E-4	0.314
18	60021767	T	G	18	62354534	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon4:c.T427G:p.L143V;TNFRSF11A:NM_001270950:exon4:c.T427G:p.L143V;TNFRSF11A:NM_003839:exon4:c.T427G:p.L143V;TNFRSF11A:NM_001278268:exon4:c.T427G:p.C143G;TNFRSF11A:NM_001270949:exon4:c.T427G:p.L143V;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon4:c.T427G:p.L143V;ENSG00000141655:ENST00000269485:exon4:c.T427G:p.L143V;	2.2773817212941E-5	0.0
18	60021768	G	A	18	62354535	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.427+1G>A;NM_001270951:exon4:c.427+1G>A;NM_001270950:exon4:c.427+1G>A;NM_001270949:exon4:c.427+1G>A;NM_003839:exon4:c.427+1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.427+1G>A;ENST00000586569:exon4:c.427+1G>A)	.	.	0.999968021563937	0.916
18	60021768	G	C	18	62354535	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.427+1G>C;NM_001270951:exon4:c.427+1G>C;NM_001270950:exon4:c.427+1G>C;NM_001270949:exon4:c.427+1G>C;NM_003839:exon4:c.427+1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.427+1G>C;ENST00000586569:exon4:c.427+1G>C)	.	.	0.999968021563937	0.914
18	60021768	G	T	18	62354535	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.427+1G>T;NM_001270951:exon4:c.427+1G>T;NM_001270950:exon4:c.427+1G>T;NM_001270949:exon4:c.427+1G>T;NM_003839:exon4:c.427+1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.427+1G>T;ENST00000586569:exon4:c.427+1G>T)	.	.	0.999968021563937	0.912
18	60021769	T	A	18	62354536	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.427+2T>A;NM_001270951:exon4:c.427+2T>A;NM_001270950:exon4:c.427+2T>A;NM_001270949:exon4:c.427+2T>A;NM_003839:exon4:c.427+2T>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.427+2T>A;ENST00000586569:exon4:c.427+2T>A)	.	.	0.999982322733069	0.916
18	60021769	T	C	18	62354536	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.427+2T>C;NM_001270951:exon4:c.427+2T>C;NM_001270950:exon4:c.427+2T>C;NM_001270949:exon4:c.427+2T>C;NM_003839:exon4:c.427+2T>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.427+2T>C;ENST00000586569:exon4:c.427+2T>C)	.	.	0.999791080255786	0.84
18	60021769	T	G	18	62354536	y	y	splicing	TNFRSF11A(NM_001278268:exon4:c.427+2T>G;NM_001270951:exon4:c.427+2T>G;NM_001270950:exon4:c.427+2T>G;NM_001270949:exon4:c.427+2T>G;NM_003839:exon4:c.427+2T>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon4:c.427+2T>G;ENST00000586569:exon4:c.427+2T>G)	.	.	0.999982322733069	0.914
18	60021770	A	C	18	62354537	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.99999008635619	0.976
18	60021770	A	G	18	62354537	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.998014844792019	0.762
18	60021770	A	T	18	62354537	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.99999008635619	0.974
18	60021771	C	A	18	62354538	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.95527232407562E-4	0.058
18	60021771	C	G	18	62354538	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0287334694350556	0.172
18	60021771	C	T	18	62354538	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.99524539396487E-4	0.092
18	60021772	G	A	18	62354539	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999976423342462	0.958
18	60021772	G	C	18	62354539	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999981002085323	0.956
18	60021772	G	T	18	62354539	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999985973836817	0.946
18	60021773	G	A	18	62354540	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0340989931919573	0.162
18	60021773	G	C	18	62354540	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00203614327646936	0.266
18	60021773	G	T	18	62354540	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.10752742004957E-4	0.03
18	60021774	G	A	18	62354541	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.11747875529061E-4	0.042
18	60021774	G	C	18	62354541	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.27459622026531E-4	0.048
18	60021774	G	T	18	62354541	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00290238354676019	0.018
18	60021775	T	A	18	62354542	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.29958477020384E-5	0.026
18	60021775	T	C	18	62354542	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.26784854377546E-4	0.2
18	60021775	T	G	18	62354542	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.52807033709588E-4	0.036
18	60025469	T	A	18	62358236	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	6.00804816573936E-4	0.104
18	60025469	T	C	18	62358236	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.19454652597088E-4	0.01
18	60025469	T	G	18	62358236	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.56197547951443E-4	0.122
18	60025470	T	A	18	62358237	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.59555580687857E-4	0.096
18	60025470	T	C	18	62358237	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.18771746870535E-5	0.012
18	60025470	T	G	18	62358237	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.93267735147931E-4	0.118
18	60025471	T	A	18	62358238	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0014350629871778	0.14
18	60025471	T	C	18	62358238	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.00390025505789E-4	0.016
18	60025471	T	G	18	62358238	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.34944981604793E-4	0.128
18	60025472	T	A	18	62358239	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	8.35775996417414E-4	0.13
18	60025472	T	C	18	62358239	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.25651584633462E-4	0.094
18	60025472	T	G	18	62358239	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00116336169463361	0.138
18	60025473	T	A	18	62358240	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00148413999071485	0.076
18	60025473	T	C	18	62358240	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.13911380329688E-4	0.006
18	60025473	T	G	18	62358240	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.44901151322662E-4	0.054
18	60025474	C	A	18	62358241	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.9718401511071E-4	0.092
18	60025474	C	G	18	62358241	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	6.5746514875158E-5	0.01
18	60025474	C	T	18	62358241	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.63217134213544E-5	0.0
18	60025475	T	A	18	62358242	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.76638440841309E-4	0.038
18	60025475	T	C	18	62358242	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.23137989384467E-5	0.0
18	60025475	T	G	18	62358242	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.31802787134818E-4	0.068
18	60025476	C	A	18	62358243	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.3897140598118E-4	0.07
18	60025476	C	G	18	62358243	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.24728623667817E-4	0.08
18	60025476	C	T	18	62358243	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.92601075405114E-5	0.02
18	60025477	A	C	18	62358244	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00330636187108328	0.022
18	60025477	A	G	18	62358244	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0051271742563943	0.026
18	60025477	A	T	18	62358244	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00446125231468217	0.048
18	60025478	C	A	18	62358245	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.996047882175532	0.792
18	60025478	C	G	18	62358245	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999970889344867	0.898
18	60025478	C	T	18	62358245	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.274829517658879	0.284
18	60025479	A	C	18	62358246	y	y	splicing	TNFRSF11A(NM_001270951:exon5:c.428-2A>C;NM_001270950:exon5:c.428-2A>C;NM_001270949:exon5:c.428-2A>C;NM_003839:exon5:c.428-2A>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.428-2A>C;ENST00000586569:exon5:c.428-2A>C)	.	.	0.999988247793601	0.932
18	60025479	A	G	18	62358246	y	y	splicing	TNFRSF11A(NM_001270951:exon5:c.428-2A>G;NM_001270950:exon5:c.428-2A>G;NM_001270949:exon5:c.428-2A>G;NM_003839:exon5:c.428-2A>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.428-2A>G;ENST00000586569:exon5:c.428-2A>G)	.	.	0.999988247793601	0.932
18	60025479	A	T	18	62358246	y	y	splicing	TNFRSF11A(NM_001270951:exon5:c.428-2A>T;NM_001270950:exon5:c.428-2A>T;NM_001270949:exon5:c.428-2A>T;NM_003839:exon5:c.428-2A>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.428-2A>T;ENST00000586569:exon5:c.428-2A>T)	.	.	0.999988247793601	0.932
18	60025480	G	A	18	62358247	y	y	splicing	TNFRSF11A(NM_001270951:exon5:c.428-1G>A;NM_001270950:exon5:c.428-1G>A;NM_001270949:exon5:c.428-1G>A;NM_003839:exon5:c.428-1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.428-1G>A;ENST00000586569:exon5:c.428-1G>A)	.	.	0.999989072007339	0.934
18	60025480	G	C	18	62358247	y	y	splicing	TNFRSF11A(NM_001270951:exon5:c.428-1G>C;NM_001270950:exon5:c.428-1G>C;NM_001270949:exon5:c.428-1G>C;NM_003839:exon5:c.428-1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.428-1G>C;ENST00000586569:exon5:c.428-1G>C)	.	.	0.999989072007339	0.934
18	60025480	G	T	18	62358247	y	y	splicing	TNFRSF11A(NM_001270951:exon5:c.428-1G>T;NM_001270950:exon5:c.428-1G>T;NM_001270949:exon5:c.428-1G>T;NM_003839:exon5:c.428-1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.428-1G>T;ENST00000586569:exon5:c.428-1G>T)	.	.	0.999989072007339	0.934
18	60025481	T	A	18	62358248	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_001270951:exon5:c.T428A:p.L143X;TNFRSF11A:NM_001270950:exon5:c.T428A:p.L143X;TNFRSF11A:NM_003839:exon5:c.T428A:p.L143X;TNFRSF11A:NM_001270949:exon5:c.T428A:p.L143X;	exonic	ENSG00000141655	stopgain SNV	ENSG00000141655:ENST00000586569:exon5:c.T428A:p.L143X;ENSG00000141655:ENST00000269485:exon5:c.T428A:p.L143X;	0.73137181653042	0.71
18	60025481	T	C	18	62358248	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.T428C:p.L143S;TNFRSF11A:NM_001270950:exon5:c.T428C:p.L143S;TNFRSF11A:NM_003839:exon5:c.T428C:p.L143S;TNFRSF11A:NM_001270949:exon5:c.T428C:p.L143S;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.T428C:p.L143S;ENSG00000141655:ENST00000269485:exon5:c.T428C:p.L143S;	0.880522390304761	0.622
18	60025481	T	G	18	62358248	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.T428G:p.L143W;TNFRSF11A:NM_001270950:exon5:c.T428G:p.L143W;TNFRSF11A:NM_003839:exon5:c.T428G:p.L143W;TNFRSF11A:NM_001270949:exon5:c.T428G:p.L143W;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.T428G:p.L143W;ENSG00000141655:ENST00000269485:exon5:c.T428G:p.L143W;	0.729563753999989	0.622
18	60025482	G	A	18	62358249	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon5:c.G429A:p.L143L;TNFRSF11A:NM_001270950:exon5:c.G429A:p.L143L;TNFRSF11A:NM_003839:exon5:c.G429A:p.L143L;TNFRSF11A:NM_001270949:exon5:c.G429A:p.L143L;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.G429A:p.L143L;ENSG00000141655:ENST00000269485:exon5:c.G429A:p.L143L;	0.072385013853467	0.16
18	60025482	G	C	18	62358249	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.G429C:p.L143F;TNFRSF11A:NM_001270950:exon5:c.G429C:p.L143F;TNFRSF11A:NM_003839:exon5:c.G429C:p.L143F;TNFRSF11A:NM_001270949:exon5:c.G429C:p.L143F;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.G429C:p.L143F;ENSG00000141655:ENST00000269485:exon5:c.G429C:p.L143F;	0.977407826005947	0.84
18	60025482	G	T	18	62358249	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.G429T:p.L143F;TNFRSF11A:NM_001270950:exon5:c.G429T:p.L143F;TNFRSF11A:NM_003839:exon5:c.G429T:p.L143F;TNFRSF11A:NM_001270949:exon5:c.G429T:p.L143F;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.G429T:p.L143F;ENSG00000141655:ENST00000269485:exon5:c.G429T:p.L143F;	0.971215311797341	0.854
18	60025572	C	A	18	62358339	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon5:c.C519A:p.T173T;TNFRSF11A:NM_001270950:exon5:c.C519A:p.T173T;TNFRSF11A:NM_003839:exon5:c.C519A:p.T173T;TNFRSF11A:NM_001278268:exon5:c.C477A:p.T159T;TNFRSF11A:NM_001270949:exon5:c.C519A:p.T173T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.C519A:p.T173T;ENSG00000141655:ENST00000269485:exon5:c.C519A:p.T173T;	8.59367641163594E-4	0.024
18	60025572	C	G	18	62358339	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon5:c.C519G:p.T173T;TNFRSF11A:NM_001270950:exon5:c.C519G:p.T173T;TNFRSF11A:NM_003839:exon5:c.C519G:p.T173T;TNFRSF11A:NM_001278268:exon5:c.C477G:p.T159T;TNFRSF11A:NM_001270949:exon5:c.C519G:p.T173T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.C519G:p.T173T;ENSG00000141655:ENST00000269485:exon5:c.C519G:p.T173T;	7.12747510777903E-4	0.016
18	60025572	C	T	18	62358339	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon5:c.C519T:p.T173T;TNFRSF11A:NM_001270950:exon5:c.C519T:p.T173T;TNFRSF11A:NM_003839:exon5:c.C519T:p.T173T;TNFRSF11A:NM_001278268:exon5:c.C477T:p.T159T;TNFRSF11A:NM_001270949:exon5:c.C519T:p.T173T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.C519T:p.T173T;ENSG00000141655:ENST00000269485:exon5:c.C519T:p.T173T;	0.0274532551812845	0.418
18	60025573	A	C	18	62358340	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.A520C:p.N174H;TNFRSF11A:NM_001270950:exon5:c.A520C:p.N174H;TNFRSF11A:NM_003839:exon5:c.A520C:p.N174H;TNFRSF11A:NM_001278268:exon5:c.A478C:p.N160H;TNFRSF11A:NM_001270949:exon5:c.A520C:p.N174H;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.A520C:p.N174H;ENSG00000141655:ENST00000269485:exon5:c.A520C:p.N174H;	0.91560762286622	0.656
18	60025573	A	G	18	62358340	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.A520G:p.N174D;TNFRSF11A:NM_001270950:exon5:c.A520G:p.N174D;TNFRSF11A:NM_003839:exon5:c.A520G:p.N174D;TNFRSF11A:NM_001278268:exon5:c.A478G:p.N160D;TNFRSF11A:NM_001270949:exon5:c.A520G:p.N174D;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.A520G:p.N174D;ENSG00000141655:ENST00000269485:exon5:c.A520G:p.N174D;	0.560053965105962	0.586
18	60025573	A	T	18	62358340	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.A520T:p.N174Y;TNFRSF11A:NM_001270950:exon5:c.A520T:p.N174Y;TNFRSF11A:NM_003839:exon5:c.A520T:p.N174Y;TNFRSF11A:NM_001278268:exon5:c.A478T:p.N160Y;TNFRSF11A:NM_001270949:exon5:c.A520T:p.N174Y;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.A520T:p.N174Y;ENSG00000141655:ENST00000269485:exon5:c.A520T:p.N174Y;	0.904532209016316	0.662
18	60025574	A	C	18	62358341	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.A521C:p.N174T;TNFRSF11A:NM_001270950:exon5:c.A521C:p.N174T;TNFRSF11A:NM_003839:exon5:c.A521C:p.N174T;TNFRSF11A:NM_001278268:exon5:c.A479C:p.N160T;TNFRSF11A:NM_001270949:exon5:c.A521C:p.N174T;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.A521C:p.N174T;ENSG00000141655:ENST00000269485:exon5:c.A521C:p.N174T;	0.386486100414167	0.49
18	60025574	A	G	18	62358341	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.A521G:p.N174S;TNFRSF11A:NM_001270950:exon5:c.A521G:p.N174S;TNFRSF11A:NM_003839:exon5:c.A521G:p.N174S;TNFRSF11A:NM_001278268:exon5:c.A479G:p.N160S;TNFRSF11A:NM_001270949:exon5:c.A521G:p.N174S;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.A521G:p.N174S;ENSG00000141655:ENST00000269485:exon5:c.A521G:p.N174S;	0.487166560404736	0.358
18	60025574	A	T	18	62358341	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon5:c.A521T:p.N174I;TNFRSF11A:NM_001270950:exon5:c.A521T:p.N174I;TNFRSF11A:NM_003839:exon5:c.A521T:p.N174I;TNFRSF11A:NM_001278268:exon5:c.A479T:p.N160I;TNFRSF11A:NM_001270949:exon5:c.A521T:p.N174I;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon5:c.A521T:p.N174I;ENSG00000141655:ENST00000269485:exon5:c.A521T:p.N174I;	0.679151806678759	0.558
18	60025575	G	A	18	62358342	y	y	splicing	TNFRSF11A(NM_001278268:exon5:c.479+1G>A;NM_001270951:exon5:c.521+1G>A;NM_001270950:exon5:c.521+1G>A;NM_001270949:exon5:c.521+1G>A;NM_003839:exon5:c.521+1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.521+1G>A;ENST00000586569:exon5:c.521+1G>A)	.	.	0.999989072007339	0.934
18	60025575	G	C	18	62358342	y	y	splicing	TNFRSF11A(NM_001278268:exon5:c.479+1G>C;NM_001270951:exon5:c.521+1G>C;NM_001270950:exon5:c.521+1G>C;NM_001270949:exon5:c.521+1G>C;NM_003839:exon5:c.521+1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.521+1G>C;ENST00000586569:exon5:c.521+1G>C)	.	.	0.999980428708689	0.936
18	60025575	G	T	18	62358342	y	y	splicing	TNFRSF11A(NM_001278268:exon5:c.479+1G>T;NM_001270951:exon5:c.521+1G>T;NM_001270950:exon5:c.521+1G>T;NM_001270949:exon5:c.521+1G>T;NM_003839:exon5:c.521+1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.521+1G>T;ENST00000586569:exon5:c.521+1G>T)	.	.	0.999980428708689	0.936
18	60025576	T	A	18	62358343	y	y	splicing	TNFRSF11A(NM_001278268:exon5:c.479+2T>A;NM_001270951:exon5:c.521+2T>A;NM_001270950:exon5:c.521+2T>A;NM_001270949:exon5:c.521+2T>A;NM_003839:exon5:c.521+2T>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.521+2T>A;ENST00000586569:exon5:c.521+2T>A)	.	.	0.99994568797423	0.928
18	60025576	T	C	18	62358343	y	y	splicing	TNFRSF11A(NM_001278268:exon5:c.479+2T>C;NM_001270951:exon5:c.521+2T>C;NM_001270950:exon5:c.521+2T>C;NM_001270949:exon5:c.521+2T>C;NM_003839:exon5:c.521+2T>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.521+2T>C;ENST00000586569:exon5:c.521+2T>C)	.	.	0.982106279493755	0.702
18	60025576	T	G	18	62358343	y	y	splicing	TNFRSF11A(NM_001278268:exon5:c.479+2T>G;NM_001270951:exon5:c.521+2T>G;NM_001270950:exon5:c.521+2T>G;NM_001270949:exon5:c.521+2T>G;NM_003839:exon5:c.521+2T>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon5:c.521+2T>G;ENST00000586569:exon5:c.521+2T>G)	.	.	0.99994568797423	0.932
18	60025577	A	C	18	62358344	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.977357460799497	0.644
18	60025577	A	G	18	62358344	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00134489323746337	0.004
18	60025577	A	T	18	62358344	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.831472139277189	0.524
18	60025578	A	C	18	62358345	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.455345987485591	0.448
18	60025578	A	G	18	62358345	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.731779684625522	0.504
18	60025578	A	T	18	62358345	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.187254178590561	0.45
18	60025579	G	A	18	62358346	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.994328315087626	0.786
18	60025579	G	C	18	62358346	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.998226867920412	0.842
18	60025579	G	T	18	62358346	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.996714596567441	0.826
18	60025580	T	A	18	62358347	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.533763355496714	0.416
18	60025580	T	C	18	62358347	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.562151744281448	0.55
18	60025580	T	G	18	62358347	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.118271179286704	0.4
18	60025581	A	C	18	62358348	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.7206022504874E-5	0.0
18	60025581	A	G	18	62358348	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.7206022504874E-5	0.0
18	60025581	A	T	18	62358348	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.7206022504874E-5	0.0
18	60025582	A	C	18	62358349	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.58839885524609E-5	0.06
18	60025582	A	G	18	62358349	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.58839885524609E-5	0.002
18	60025582	A	T	18	62358349	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.58839885524609E-5	0.0
18	60027176	T	A	18	62359943	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.9164765522824E-4	0.046
18	60027176	T	C	18	62359943	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.51490845943049E-5	0.0
18	60027176	T	G	18	62359943	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.68431563196814E-4	0.028
18	60027177	T	A	18	62359944	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00132177280490106	0.074
18	60027177	T	C	18	62359944	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.73728206041433E-4	0.008
18	60027177	T	G	18	62359944	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.91136253897068E-4	0.066
18	60027178	T	A	18	62359945	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.66105934565516E-4	0.088
18	60027178	T	C	18	62359945	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.3514097623321E-5	0.0
18	60027178	T	G	18	62359945	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.08539405319181E-5	0.046
18	60027179	C	A	18	62359946	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.92377626392991E-4	0.066
18	60027179	C	G	18	62359946	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.63324809956742E-5	0.01
18	60027179	C	T	18	62359946	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.91599521872062E-5	0.0
18	60027180	C	A	18	62359947	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00387175319438097	0.058
18	60027180	C	G	18	62359947	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00172200811914542	0.1
18	60027180	C	T	18	62359947	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.25867084178434E-5	0.026
18	60027181	C	A	18	62359948	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.53741223402361E-4	0.042
18	60027181	C	G	18	62359948	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	6.19315360101182E-4	0.04
18	60027181	C	T	18	62359948	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.42076671175045E-5	0.0
18	60027182	C	A	18	62359949	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0193391426861167	0.16
18	60027182	C	G	18	62359949	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0158586449866969	0.172
18	60027182	C	T	18	62359949	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	8.21772465372481E-5	0.012
18	60027183	C	A	18	62359950	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0206805866851135	0.098
18	60027183	C	G	18	62359950	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0213978991138179	0.116
18	60027183	C	T	18	62359950	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.48112596855082E-4	0.018
18	60027184	A	C	18	62359951	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.5116943272391E-4	0.002
18	60027184	A	G	18	62359951	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.00083483411006E-5	0.004
18	60027184	A	T	18	62359951	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0014175317438138	0.034
18	60027185	C	A	18	62359952	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.998806482849405	0.874
18	60027185	C	G	18	62359952	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999525117742753	0.942
18	60027185	C	T	18	62359952	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.044461386121531	0.114
18	60027186	A	C	18	62359953	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.480-2A>C;NM_001270951:exon6:c.522-2A>C;NM_001270950:exon6:c.522-2A>C;NM_001270949:exon6:c.522-2A>C;NM_003839:exon6:c.522-2A>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.522-2A>C;ENST00000586569:exon6:c.522-2A>C)	.	.	0.999988247793601	0.928
18	60027186	A	G	18	62359953	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.480-2A>G;NM_001270951:exon6:c.522-2A>G;NM_001270950:exon6:c.522-2A>G;NM_001270949:exon6:c.522-2A>G;NM_003839:exon6:c.522-2A>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.522-2A>G;ENST00000586569:exon6:c.522-2A>G)	.	.	0.999988247793601	0.928
18	60027186	A	T	18	62359953	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.480-2A>T;NM_001270951:exon6:c.522-2A>T;NM_001270950:exon6:c.522-2A>T;NM_001270949:exon6:c.522-2A>T;NM_003839:exon6:c.522-2A>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.522-2A>T;ENST00000586569:exon6:c.522-2A>T)	.	.	0.999988247793601	0.928
18	60027187	G	A	18	62359954	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.480-1G>A;NM_001270951:exon6:c.522-1G>A;NM_001270950:exon6:c.522-1G>A;NM_001270949:exon6:c.522-1G>A;NM_003839:exon6:c.522-1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.522-1G>A;ENST00000586569:exon6:c.522-1G>A)	.	.	0.999985532734767	0.936
18	60027187	G	C	18	62359954	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.480-1G>C;NM_001270951:exon6:c.522-1G>C;NM_001270950:exon6:c.522-1G>C;NM_001270949:exon6:c.522-1G>C;NM_003839:exon6:c.522-1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.522-1G>C;ENST00000586569:exon6:c.522-1G>C)	.	.	0.999985532734767	0.936
18	60027187	G	T	18	62359954	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.480-1G>T;NM_001270951:exon6:c.522-1G>T;NM_001270950:exon6:c.522-1G>T;NM_001270949:exon6:c.522-1G>T;NM_003839:exon6:c.522-1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.522-1G>T;ENST00000586569:exon6:c.522-1G>T)	.	.	0.999985532734767	0.936
18	60027188	C	A	18	62359955	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.C522A:p.N174K;TNFRSF11A:NM_001270950:exon6:c.C522A:p.N174K;TNFRSF11A:NM_003839:exon6:c.C522A:p.N174K;TNFRSF11A:NM_001278268:exon6:c.C480A:p.N160K;TNFRSF11A:NM_001270949:exon6:c.C522A:p.N174K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.C522A:p.N174K;ENSG00000141655:ENST00000269485:exon6:c.C522A:p.N174K;	2.68385202922115E-4	0.128
18	60027188	C	G	18	62359955	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.C522G:p.N174K;TNFRSF11A:NM_001270950:exon6:c.C522G:p.N174K;TNFRSF11A:NM_003839:exon6:c.C522G:p.N174K;TNFRSF11A:NM_001278268:exon6:c.C480G:p.N160K;TNFRSF11A:NM_001270949:exon6:c.C522G:p.N174K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.C522G:p.N174K;ENSG00000141655:ENST00000269485:exon6:c.C522G:p.N174K;	3.6361920647034E-4	0.186
18	60027188	C	T	18	62359955	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon6:c.C522T:p.N174N;TNFRSF11A:NM_001270950:exon6:c.C522T:p.N174N;TNFRSF11A:NM_003839:exon6:c.C522T:p.N174N;TNFRSF11A:NM_001278268:exon6:c.C480T:p.N160N;TNFRSF11A:NM_001270949:exon6:c.C522T:p.N174N;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.C522T:p.N174N;ENSG00000141655:ENST00000269485:exon6:c.C522T:p.N174N;	0.00103753539717975	0.082
18	60027189	T	A	18	62359956	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.T523A:p.C175S;TNFRSF11A:NM_001270950:exon6:c.T523A:p.C175S;TNFRSF11A:NM_003839:exon6:c.T523A:p.C175S;TNFRSF11A:NM_001278268:exon6:c.T481A:p.C161S;TNFRSF11A:NM_001270949:exon6:c.T523A:p.C175S;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.T523A:p.C175S;ENSG00000141655:ENST00000269485:exon6:c.T523A:p.C175S;	0.625209781940653	0.476
18	60027189	T	C	18	62359956	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.T523C:p.C175R;TNFRSF11A:NM_001270950:exon6:c.T523C:p.C175R;TNFRSF11A:NM_003839:exon6:c.T523C:p.C175R;TNFRSF11A:NM_001278268:exon6:c.T481C:p.C161R;TNFRSF11A:NM_001270949:exon6:c.T523C:p.C175R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.T523C:p.C175R;ENSG00000141655:ENST00000269485:exon6:c.T523C:p.C175R;	0.402283716991861	0.4
18	60027189	T	G	18	62359956	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.T523G:p.C175G;TNFRSF11A:NM_001270950:exon6:c.T523G:p.C175G;TNFRSF11A:NM_003839:exon6:c.T523G:p.C175G;TNFRSF11A:NM_001278268:exon6:c.T481G:p.C161G;TNFRSF11A:NM_001270949:exon6:c.T523G:p.C175G;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.T523G:p.C175G;ENSG00000141655:ENST00000269485:exon6:c.T523G:p.C175G;	0.207388846962998	0.436
18	60027280	A	C	18	62360047	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.A614C:p.N205T;TNFRSF11A:NM_001270950:exon6:c.A614C:p.N205T;TNFRSF11A:NM_003839:exon6:c.A614C:p.N205T;TNFRSF11A:NM_001278268:exon6:c.A572C:p.N191T;TNFRSF11A:NM_001270949:exon6:c.A614C:p.N205T;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.A614C:p.N205T;ENSG00000141655:ENST00000269485:exon6:c.A614C:p.N205T;	1.46604893298947E-4	0.0
18	60027280	A	G	18	62360047	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.A614G:p.N205S;TNFRSF11A:NM_001270950:exon6:c.A614G:p.N205S;TNFRSF11A:NM_003839:exon6:c.A614G:p.N205S;TNFRSF11A:NM_001278268:exon6:c.A572G:p.N191S;TNFRSF11A:NM_001270949:exon6:c.A614G:p.N205S;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.A614G:p.N205S;ENSG00000141655:ENST00000269485:exon6:c.A614G:p.N205S;	3.80237557715615E-4	0.02
18	60027280	A	T	18	62360047	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.A614T:p.N205I;TNFRSF11A:NM_001270950:exon6:c.A614T:p.N205I;TNFRSF11A:NM_003839:exon6:c.A614T:p.N205I;TNFRSF11A:NM_001278268:exon6:c.A572T:p.N191I;TNFRSF11A:NM_001270949:exon6:c.A614T:p.N205I;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.A614T:p.N205I;ENSG00000141655:ENST00000269485:exon6:c.A614T:p.N205I;	0.0105322281127742	0.268
18	60027281	T	A	18	62360048	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.T615A:p.N205K;TNFRSF11A:NM_001270950:exon6:c.T615A:p.N205K;TNFRSF11A:NM_003839:exon6:c.T615A:p.N205K;TNFRSF11A:NM_001278268:exon6:c.T573A:p.N191K;TNFRSF11A:NM_001270949:exon6:c.T615A:p.N205K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.T615A:p.N205K;ENSG00000141655:ENST00000269485:exon6:c.T615A:p.N205K;	6.23879327207137E-4	0.194
18	60027281	T	C	18	62360048	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270951:exon6:c.T615C:p.N205N;TNFRSF11A:NM_001270950:exon6:c.T615C:p.N205N;TNFRSF11A:NM_003839:exon6:c.T615C:p.N205N;TNFRSF11A:NM_001278268:exon6:c.T573C:p.N191N;TNFRSF11A:NM_001270949:exon6:c.T615C:p.N205N;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.T615C:p.N205N;ENSG00000141655:ENST00000269485:exon6:c.T615C:p.N205N;	1.73883238564865E-4	0.036
18	60027281	T	G	18	62360048	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.T615G:p.N205K;TNFRSF11A:NM_001270950:exon6:c.T615G:p.N205K;TNFRSF11A:NM_003839:exon6:c.T615G:p.N205K;TNFRSF11A:NM_001278268:exon6:c.T573G:p.N191K;TNFRSF11A:NM_001270949:exon6:c.T615G:p.N205K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.T615G:p.N205K;ENSG00000141655:ENST00000269485:exon6:c.T615G:p.N205K;	0.00162996884552903	0.104
18	60027282	G	A	18	62360049	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.G616A:p.G206R;TNFRSF11A:NM_001270950:exon6:c.G616A:p.E206K;TNFRSF11A:NM_003839:exon6:c.G616A:p.E206K;TNFRSF11A:NM_001278268:exon6:c.G574A:p.E192K;TNFRSF11A:NM_001270949:exon6:c.G616A:p.E206K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.G616A:p.E206K;ENSG00000141655:ENST00000269485:exon6:c.G616A:p.G206R;	0.999952244308375	1.0
18	60027282	G	C	18	62360049	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon6:c.G616C:p.G206R;TNFRSF11A:NM_001270950:exon6:c.G616C:p.E206Q;TNFRSF11A:NM_003839:exon6:c.G616C:p.E206Q;TNFRSF11A:NM_001278268:exon6:c.G574C:p.E192Q;TNFRSF11A:NM_001270949:exon6:c.G616C:p.E206Q;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon6:c.G616C:p.E206Q;ENSG00000141655:ENST00000269485:exon6:c.G616C:p.G206R;	0.999991764409905	0.962
18	60027282	G	T	18	62360049	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_001270951:exon6:c.G616T:p.G206X;TNFRSF11A:NM_001270950:exon6:c.G616T:p.E206X;TNFRSF11A:NM_003839:exon6:c.G616T:p.E206X;TNFRSF11A:NM_001278268:exon6:c.G574T:p.E192X;TNFRSF11A:NM_001270949:exon6:c.G616T:p.E206X;	exonic	ENSG00000141655	stopgain SNV	ENSG00000141655:ENST00000586569:exon6:c.G616T:p.E206X;ENSG00000141655:ENST00000269485:exon6:c.G616T:p.G206X;	0.999979958499174	1.0
18	60027283	G	A	18	62360050	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.574+1G>A;NM_001270951:exon6:c.616+1G>A;NM_001270950:exon6:c.616+1G>A;NM_001270949:exon6:c.616+1G>A;NM_003839:exon6:c.616+1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.616+1G>A;ENST00000586569:exon6:c.616+1G>A)	.	.	0.999990361384395	0.936
18	60027283	G	C	18	62360050	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.574+1G>C;NM_001270951:exon6:c.616+1G>C;NM_001270950:exon6:c.616+1G>C;NM_001270949:exon6:c.616+1G>C;NM_003839:exon6:c.616+1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.616+1G>C;ENST00000586569:exon6:c.616+1G>C)	.	.	0.999990361384395	0.936
18	60027283	G	T	18	62360050	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.574+1G>T;NM_001270951:exon6:c.616+1G>T;NM_001270950:exon6:c.616+1G>T;NM_001270949:exon6:c.616+1G>T;NM_003839:exon6:c.616+1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.616+1G>T;ENST00000586569:exon6:c.616+1G>T)	.	.	0.999990361384395	0.936
18	60027284	T	A	18	62360051	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.574+2T>A;NM_001270951:exon6:c.616+2T>A;NM_001270950:exon6:c.616+2T>A;NM_001270949:exon6:c.616+2T>A;NM_003839:exon6:c.616+2T>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.616+2T>A;ENST00000586569:exon6:c.616+2T>A)	.	.	0.999988247793601	0.93
18	60027284	T	C	18	62360051	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.574+2T>C;NM_001270951:exon6:c.616+2T>C;NM_001270950:exon6:c.616+2T>C;NM_001270949:exon6:c.616+2T>C;NM_003839:exon6:c.616+2T>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.616+2T>C;ENST00000586569:exon6:c.616+2T>C)	.	.	0.98918007292081	0.666
18	60027284	T	G	18	62360051	y	y	splicing	TNFRSF11A(NM_001278268:exon6:c.574+2T>G;NM_001270951:exon6:c.616+2T>G;NM_001270950:exon6:c.616+2T>G;NM_001270949:exon6:c.616+2T>G;NM_003839:exon6:c.616+2T>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon6:c.616+2T>G;ENST00000586569:exon6:c.616+2T>G)	.	.	0.999988247793601	0.93
18	60027285	A	C	18	62360052	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999938772790653	0.954
18	60027285	A	G	18	62360052	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999494090137259	0.966
18	60027285	A	T	18	62360052	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999493123214443	0.93
18	60027286	T	A	18	62360053	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.93164969985071E-5	0.032
18	60027286	T	C	18	62360053	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.5079205178086E-4	0.056
18	60027286	T	G	18	62360053	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	8.03314215804059E-6	0.018
18	60027287	G	A	18	62360054	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999828644149524	0.996
18	60027287	G	C	18	62360054	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999965962081148	0.996
18	60027287	G	T	18	62360054	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999899014123854	0.992
18	60027288	T	A	18	62360055	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.482523691009992	0.49
18	60027288	T	C	18	62360055	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.406420847115541	0.45
18	60027288	T	G	18	62360055	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.594877403404322	0.46
18	60027289	T	A	18	62360056	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.74547395014825E-4	0.01
18	60027289	T	C	18	62360056	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.55786901079059E-4	0.002
18	60027289	T	G	18	62360056	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.73472510669737E-4	0.002
18	60027290	T	A	18	62360057	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.56311106026065E-4	0.02
18	60027290	T	C	18	62360057	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.20339343399365E-4	0.008
18	60027290	T	G	18	62360057	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0023129948656379	0.15
18	60028901	C	A	18	62361668	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00489873894510718	0.118
18	60028901	C	G	18	62361668	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00197651614248924	0.03
18	60028901	C	T	18	62361668	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.64682426238964E-5	0.0
18	60028902	T	A	18	62361669	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.83875947165699	0.824
18	60028902	T	C	18	62361669	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.394417140064264	0.282
18	60028902	T	G	18	62361669	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.783728833276918	0.724
18	60028903	T	A	18	62361670	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00762730691767117	0.248
18	60028903	T	C	18	62361670	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	8.04421430076037E-4	0.118
18	60028903	T	G	18	62361670	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.535928004613113	0.38
18	60028904	C	A	18	62361671	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00135550353259977	0.05
18	60028904	C	G	18	62361671	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00371303829875475	0.062
18	60028904	C	T	18	62361671	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.38045551681122E-5	0.0
18	60028905	C	A	18	62361672	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0016201888800801	0.052
18	60028905	C	G	18	62361672	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00404568942375483	0.068
18	60028905	C	T	18	62361672	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.04927482748308E-4	0.0
18	60028906	A	C	18	62361673	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.1159529692063E-5	0.006
18	60028906	A	G	18	62361673	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.6950934487748E-4	0.0
18	60028906	A	T	18	62361673	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.16401692457836E-5	0.006
18	60028907	A	C	18	62361674	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	6.78425500658509E-5	0.012
18	60028907	A	G	18	62361674	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.998513261827072	0.968
18	60028907	A	T	18	62361674	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.19653799224524E-5	0.002
18	60028908	T	A	18	62361675	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.234973529916311	0.368
18	60028908	T	C	18	62361675	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.61382945361143E-4	0.038
18	60028908	T	G	18	62361675	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999926361298849	0.866
18	60028909	A	C	18	62361676	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.40256651913134E-5	0.042
18	60028909	A	G	18	62361676	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.23660960949519E-4	0.056
18	60028909	A	T	18	62361676	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.40329353357492E-5	0.002
18	60028910	C	A	18	62361677	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999159293484982	0.87
18	60028910	C	G	18	62361677	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999769827581787	0.924
18	60028910	C	T	18	62361677	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.142737016767613	0.384
18	60028911	A	C	18	62361678	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.575-2A>C;NM_001270950:exon7:c.617-2A>C;NM_001270949:exon7:c.617-2A>C;NM_003839:exon7:c.617-2A>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.617-2A>C)	.	.	0.999951957019574	0.916
18	60028911	A	G	18	62361678	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.575-2A>G;NM_001270950:exon7:c.617-2A>G;NM_001270949:exon7:c.617-2A>G;NM_003839:exon7:c.617-2A>G)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.617-2A>G)	.	.	0.999951957019574	0.912
18	60028911	A	T	18	62361678	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.575-2A>T;NM_001270950:exon7:c.617-2A>T;NM_001270949:exon7:c.617-2A>T;NM_003839:exon7:c.617-2A>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.617-2A>T)	.	.	0.999964896440643	0.958
18	60028912	G	A	18	62361679	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.575-1G>A;NM_001270950:exon7:c.617-1G>A;NM_001270949:exon7:c.617-1G>A;NM_003839:exon7:c.617-1G>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.617-1G>A)	.	.	0.999960597114489	0.914
18	60028912	G	C	18	62361679	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.575-1G>C;NM_001270950:exon7:c.617-1G>C;NM_001270949:exon7:c.617-1G>C;NM_003839:exon7:c.617-1G>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.617-1G>C)	.	.	0.999976475802857	0.916
18	60028912	G	T	18	62361679	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.575-1G>T;NM_001270950:exon7:c.617-1G>T;NM_001270949:exon7:c.617-1G>T;NM_003839:exon7:c.617-1G>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.617-1G>T)	.	.	0.999976475802857	0.918
18	60028913	A	C	18	62361680	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A617C:p.E206A;TNFRSF11A:NM_003839:exon7:c.A617C:p.E206A;TNFRSF11A:NM_001278268:exon7:c.A575C:p.E192A;TNFRSF11A:NM_001270949:exon7:c.A617C:p.E206A;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A617C:p.E206A;	0.0110533739382053	0.208
18	60028913	A	G	18	62361680	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A617G:p.E206G;TNFRSF11A:NM_003839:exon7:c.A617G:p.E206G;TNFRSF11A:NM_001278268:exon7:c.A575G:p.E192G;TNFRSF11A:NM_001270949:exon7:c.A617G:p.E206G;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A617G:p.E206G;	4.87705941924367E-4	0.022
18	60028913	A	T	18	62361680	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A617T:p.E206V;TNFRSF11A:NM_003839:exon7:c.A617T:p.E206V;TNFRSF11A:NM_001278268:exon7:c.A575T:p.E192V;TNFRSF11A:NM_001270949:exon7:c.A617T:p.E206V;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A617T:p.E206V;	0.131450440277214	0.35
18	60028914	A	C	18	62361681	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A618C:p.E206D;TNFRSF11A:NM_003839:exon7:c.A618C:p.E206D;TNFRSF11A:NM_001278268:exon7:c.A576C:p.E192D;TNFRSF11A:NM_001270949:exon7:c.A618C:p.E206D;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A618C:p.E206D;	3.31359761911296E-4	0.066
18	60028914	A	G	18	62361681	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A618G:p.E206E;TNFRSF11A:NM_003839:exon7:c.A618G:p.E206E;TNFRSF11A:NM_001278268:exon7:c.A576G:p.E192E;TNFRSF11A:NM_001270949:exon7:c.A618G:p.E206E;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A618G:p.E206E;	2.75681530766789E-4	0.02
18	60028914	A	T	18	62361681	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A618T:p.E206D;TNFRSF11A:NM_003839:exon7:c.A618T:p.E206D;TNFRSF11A:NM_001278268:exon7:c.A576T:p.E192D;TNFRSF11A:NM_001270949:exon7:c.A618T:p.E206D;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A618T:p.E206D;	3.32264589624665E-5	0.004
18	60029024	C	A	18	62361791	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.C728A:p.T243K;TNFRSF11A:NM_003839:exon7:c.C728A:p.T243K;TNFRSF11A:NM_001278268:exon7:c.C686A:p.T229K;TNFRSF11A:NM_001270949:exon7:c.C728A:p.T243K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.C728A:p.T243K;	0.968652283047683	0.74
18	60029024	C	G	18	62361791	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.C728G:p.T243R;TNFRSF11A:NM_003839:exon7:c.C728G:p.T243R;TNFRSF11A:NM_001278268:exon7:c.C686G:p.T229R;TNFRSF11A:NM_001270949:exon7:c.C728G:p.T243R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.C728G:p.T243R;	0.919343389573392	0.682
18	60029024	C	T	18	62361791	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.C728T:p.T243I;TNFRSF11A:NM_003839:exon7:c.C728T:p.T243I;TNFRSF11A:NM_001278268:exon7:c.C686T:p.T229I;TNFRSF11A:NM_001270949:exon7:c.C728T:p.T243I;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.C728T:p.T243I;	0.999894616323496	0.988
18	60029025	A	C	18	62361792	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A729C:p.T243T;TNFRSF11A:NM_003839:exon7:c.A729C:p.T243T;TNFRSF11A:NM_001278268:exon7:c.A687C:p.T229T;TNFRSF11A:NM_001270949:exon7:c.A729C:p.T243T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A729C:p.T243T;	0.999635779719492	0.992
18	60029025	A	G	18	62361792	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A729G:p.T243T;TNFRSF11A:NM_003839:exon7:c.A729G:p.T243T;TNFRSF11A:NM_001278268:exon7:c.A687G:p.T229T;TNFRSF11A:NM_001270949:exon7:c.A729G:p.T243T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A729G:p.T243T;	0.999256048636435	0.996
18	60029025	A	T	18	62361792	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_001270950:exon7:c.A729T:p.T243T;TNFRSF11A:NM_003839:exon7:c.A729T:p.T243T;TNFRSF11A:NM_001278268:exon7:c.A687T:p.T229T;TNFRSF11A:NM_001270949:exon7:c.A729T:p.T243T;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.A729T:p.T243T;	0.999668092647398	0.996
18	60029026	G	A	18	62361793	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.G730A:p.G244R;TNFRSF11A:NM_003839:exon7:c.G730A:p.A244T;TNFRSF11A:NM_001278268:exon7:c.G688A:p.A230T;TNFRSF11A:NM_001270949:exon7:c.G730A:p.A244T;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.G730A:p.A244T;	0.999992042933719	1.0
18	60029026	G	C	18	62361793	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270950:exon7:c.G730C:p.G244R;TNFRSF11A:NM_003839:exon7:c.G730C:p.A244P;TNFRSF11A:NM_001278268:exon7:c.G688C:p.A230P;TNFRSF11A:NM_001270949:exon7:c.G730C:p.A244P;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.G730C:p.A244P;	0.999997360428448	1.0
18	60029026	G	T	18	62361793	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_001270950:exon7:c.G730T:p.G244X;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon7:c.G730T:p.A244S;	0.999994342005323	0.998
18	60029027	G	A	18	62361794	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.688+1G>A;NM_001270950:exon7:c.730+1G>A;NM_001270949:exon7:c.730+1G>A;NM_003839:exon7:c.730+1G>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.730+1G>A)	.	.	0.999990361384395	0.952
18	60029027	G	C	18	62361794	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.688+1G>C;NM_001270950:exon7:c.730+1G>C;NM_001270949:exon7:c.730+1G>C;NM_003839:exon7:c.730+1G>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.730+1G>C)	.	.	0.999990361384395	0.952
18	60029027	G	T	18	62361794	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.688+1G>T;NM_001270950:exon7:c.730+1G>T;NM_001270949:exon7:c.730+1G>T;NM_003839:exon7:c.730+1G>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.730+1G>T)	.	.	0.999990361384395	0.95
18	60029028	T	A	18	62361795	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.688+2T>A;NM_001270950:exon7:c.730+2T>A;NM_001270949:exon7:c.730+2T>A;NM_003839:exon7:c.730+2T>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.730+2T>A)	.	.	0.999988247793601	0.952
18	60029028	T	C	18	62361795	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.688+2T>C;NM_001270950:exon7:c.730+2T>C;NM_001270949:exon7:c.730+2T>C;NM_003839:exon7:c.730+2T>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.730+2T>C)	.	.	0.994731650058242	0.714
18	60029028	T	G	18	62361795	y	y	splicing	TNFRSF11A(NM_001278268:exon7:c.688+2T>G;NM_001270950:exon7:c.730+2T>G;NM_001270949:exon7:c.730+2T>G;NM_003839:exon7:c.730+2T>G)	.	.	splicing	ENSG00000141655(ENST00000586569:exon7:c.730+2T>G)	.	.	0.999988247793601	0.954
18	60029029	A	C	18	62361796	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999953749610841	0.964
18	60029029	A	G	18	62361796	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999784216823584	0.932
18	60029029	A	T	18	62361796	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999950071005818	0.986
18	60029030	T	A	18	62361797	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.48933902683192E-5	0.008
18	60029030	T	C	18	62361797	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.79575421938506E-5	0.004
18	60029030	T	G	18	62361797	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.97331920418386E-5	0.032
18	60029031	T	A	18	62361798	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.7684133142452E-5	0.014
18	60029031	T	C	18	62361798	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.32290615629426E-5	0.002
18	60029031	T	G	18	62361798	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.60576307120167E-5	0.004
18	60029032	G	A	18	62361799	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00323901432977768	0.126
18	60029032	G	C	18	62361799	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00496596793122295	0.128
18	60029032	G	T	18	62361799	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00537955165495655	0.102
18	60029033	T	A	18	62361800	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.87398488814189E-5	0.0
18	60029033	T	C	18	62361800	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.9139223998749E-5	0.0
18	60029033	T	G	18	62361800	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.88090073289263E-5	0.0
18	60029034	G	A	18	62361801	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.43692088024529E-4	0.002
18	60029034	G	C	18	62361801	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.58269287455309E-4	0.036
18	60029034	G	T	18	62361801	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.49072551373861E-5	0.044
18	60033929	T	A	18	62366696	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999926165045866	0.942
18	60033929	T	C	18	62366696	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0375123213398236	0.25
18	60033929	T	G	18	62366696	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.991702936707719	0.818
18	60033930	G	A	18	62366697	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.77911969096516E-4	0.032
18	60033930	G	C	18	62366697	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.74104004947424E-5	0.0
18	60033930	G	T	18	62366697	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.93162410857606E-5	0.074
18	60033931	T	A	18	62366698	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999987550175595	0.948
18	60033931	T	C	18	62366698	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0868390574806843	0.398
18	60033931	T	G	18	62366698	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.995876945687639	0.818
18	60033932	G	A	18	62366699	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.76313693555255E-5	0.002
18	60033932	G	C	18	62366699	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.6094927618622E-5	0.0
18	60033932	G	T	18	62366699	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.87639152605572E-5	0.0
18	60033933	T	A	18	62366700	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.380386899579189	0.232
18	60033933	T	C	18	62366700	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.90011875270422E-4	0.018
18	60033933	T	G	18	62366700	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0148762959088713	0.196
18	60033934	T	A	18	62366701	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.710839097327848	0.376
18	60033934	T	C	18	62366701	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00144149049135146	0.022
18	60033934	T	G	18	62366701	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.189279620238732	0.286
18	60033935	T	A	18	62366702	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.980813085869235	0.82
18	60033935	T	C	18	62366702	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00190733626615428	0.06
18	60033935	T	G	18	62366702	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.977598807555842	0.806
18	60033936	T	A	18	62366703	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.907478764394893	0.666
18	60033936	T	C	18	62366703	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00624360589266818	0.146
18	60033936	T	G	18	62366703	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.783968243168045	0.66
18	60033937	C	A	18	62366704	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.22295949950218E-4	0.03
18	60033937	C	G	18	62366704	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.0786267595511E-4	0.034
18	60033937	C	T	18	62366704	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.9098991619247E-4	0.03
18	60033938	T	A	18	62366705	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0124495532777775	0.206
18	60033938	T	C	18	62366705	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.56921427114317E-4	0.0
18	60033938	T	G	18	62366705	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.992860688174986	0.738
18	60033939	A	C	18	62366706	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.689-2A>C;NM_001270949:exon8:c.731-2A>C;NM_003839:exon8:c.731-2A>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.731-2A>C)	.	.	0.999988247793601	0.926
18	60033939	A	G	18	62366706	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.689-2A>G;NM_001270949:exon8:c.731-2A>G;NM_003839:exon8:c.731-2A>G)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.731-2A>G)	.	.	0.999988247793601	0.926
18	60033939	A	T	18	62366706	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.689-2A>T;NM_001270949:exon8:c.731-2A>T;NM_003839:exon8:c.731-2A>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.731-2A>T)	.	.	0.999988247793601	0.926
18	60033940	G	A	18	62366707	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.689-1G>A;NM_001270949:exon8:c.731-1G>A;NM_003839:exon8:c.731-1G>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.731-1G>A)	.	.	0.999986675681007	0.934
18	60033940	G	C	18	62366707	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.689-1G>C;NM_001270949:exon8:c.731-1G>C;NM_003839:exon8:c.731-1G>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.731-1G>C)	.	.	0.999986675681007	0.932
18	60033940	G	T	18	62366707	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.689-1G>T;NM_001270949:exon8:c.731-1G>T;NM_003839:exon8:c.731-1G>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.731-1G>T)	.	.	0.999986675681007	0.932
18	60033941	C	A	18	62366708	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.C731A:p.A244D;TNFRSF11A:NM_001278268:exon8:c.C689A:p.A230D;TNFRSF11A:NM_001270949:exon8:c.C731A:p.A244D;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.C731A:p.A244D;	0.94105568212734	0.814
18	60033941	C	G	18	62366708	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.C731G:p.A244G;TNFRSF11A:NM_001278268:exon8:c.C689G:p.A230G;TNFRSF11A:NM_001270949:exon8:c.C731G:p.A244G;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.C731G:p.A244G;	0.946795080640148	0.702
18	60033941	C	T	18	62366708	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.C731T:p.A244V;TNFRSF11A:NM_001278268:exon8:c.C689T:p.A230V;TNFRSF11A:NM_001270949:exon8:c.C731T:p.A244V;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.C731T:p.A244V;	0.995636587919527	0.942
18	60033942	T	A	18	62366709	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_003839:exon8:c.T732A:p.A244A;TNFRSF11A:NM_001278268:exon8:c.T690A:p.A230A;TNFRSF11A:NM_001270949:exon8:c.T732A:p.A244A;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.T732A:p.A244A;	0.00405534556715601	0.182
18	60033942	T	C	18	62366709	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_003839:exon8:c.T732C:p.A244A;TNFRSF11A:NM_001278268:exon8:c.T690C:p.A230A;TNFRSF11A:NM_001270949:exon8:c.T732C:p.A244A;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.T732C:p.A244A;	0.00219941585996736	0.062
18	60033942	T	G	18	62366709	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_003839:exon8:c.T732G:p.A244A;TNFRSF11A:NM_001278268:exon8:c.T690G:p.A230A;TNFRSF11A:NM_001270949:exon8:c.T732G:p.A244A;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.T732G:p.A244A;	1.24585985587525E-4	0.198
18	60033991	A	C	18	62366758	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.A781C:p.K261Q;TNFRSF11A:NM_001278268:exon8:c.A739C:p.K247Q;TNFRSF11A:NM_001270949:exon8:c.A781C:p.K261Q;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.A781C:p.K261Q;	0.78523955494846	0.7
18	60033991	A	G	18	62366758	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.A781G:p.K261E;TNFRSF11A:NM_001278268:exon8:c.A739G:p.K247E;TNFRSF11A:NM_001270949:exon8:c.A781G:p.K261E;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.A781G:p.K261E;	0.896668512096263	0.482
18	60033991	A	T	18	62366758	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_003839:exon8:c.A781T:p.K261X;TNFRSF11A:NM_001278268:exon8:c.A739T:p.K247X;TNFRSF11A:NM_001270949:exon8:c.A781T:p.K261X;	exonic	ENSG00000141655	stopgain SNV	ENSG00000141655:ENST00000586569:exon8:c.A781T:p.K261X;	0.998613020061738	0.886
18	60033992	A	C	18	62366759	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.A782C:p.K261T;TNFRSF11A:NM_001278268:exon8:c.A740C:p.K247T;TNFRSF11A:NM_001270949:exon8:c.A782C:p.K261T;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.A782C:p.K261T;	0.999930133034464	1.0
18	60033992	A	G	18	62366759	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.A782G:p.K261R;TNFRSF11A:NM_001278268:exon8:c.A740G:p.K247R;TNFRSF11A:NM_001270949:exon8:c.A782G:p.K261R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.A782G:p.K261R;	0.999969201475384	1.0
18	60033992	A	T	18	62366759	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.A782T:p.K261M;TNFRSF11A:NM_001278268:exon8:c.A740T:p.K247M;TNFRSF11A:NM_001270949:exon8:c.A782T:p.K261M;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.A782T:p.K261M;	0.999965083974172	1.0
18	60033993	G	A	18	62366760	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_003839:exon8:c.G783A:p.K261K;TNFRSF11A:NM_001278268:exon8:c.G741A:p.K247K;TNFRSF11A:NM_001270949:exon8:c.G783A:p.K261K;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.G783A:p.K261K;	0.99998467538553	1.0
18	60033993	G	C	18	62366760	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.G783C:p.K261N;TNFRSF11A:NM_001278268:exon8:c.G741C:p.K247N;TNFRSF11A:NM_001270949:exon8:c.G783C:p.K261N;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.G783C:p.K261N;	0.999997627706868	1.0
18	60033993	G	T	18	62366760	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon8:c.G783T:p.K261N;TNFRSF11A:NM_001278268:exon8:c.G741T:p.K247N;TNFRSF11A:NM_001270949:exon8:c.G783T:p.K261N;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon8:c.G783T:p.K261N;	0.999992581621154	0.998
18	60033994	G	A	18	62366761	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.741+1G>A;NM_001270949:exon8:c.783+1G>A;NM_003839:exon8:c.783+1G>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.783+1G>A)	.	.	0.999986675681007	0.944
18	60033994	G	C	18	62366761	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.741+1G>C;NM_001270949:exon8:c.783+1G>C;NM_003839:exon8:c.783+1G>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.783+1G>C)	.	.	0.999986675681007	0.946
18	60033994	G	T	18	62366761	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.741+1G>T;NM_001270949:exon8:c.783+1G>T;NM_003839:exon8:c.783+1G>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.783+1G>T)	.	.	0.999986675681007	0.946
18	60033995	T	A	18	62366762	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.741+2T>A;NM_001270949:exon8:c.783+2T>A;NM_003839:exon8:c.783+2T>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.783+2T>A)	.	.	0.999986903042585	0.938
18	60033995	T	C	18	62366762	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.741+2T>C;NM_001270949:exon8:c.783+2T>C;NM_003839:exon8:c.783+2T>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.783+2T>C)	.	.	0.995969402284214	0.646
18	60033995	T	G	18	62366762	y	y	splicing	TNFRSF11A(NM_001278268:exon8:c.741+2T>G;NM_001270949:exon8:c.783+2T>G;NM_003839:exon8:c.783+2T>G)	.	.	splicing	ENSG00000141655(ENST00000586569:exon8:c.783+2T>G)	.	.	0.999986903042585	0.936
18	60033996	A	C	18	62366763	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999904051940788	0.968
18	60033996	A	G	18	62366763	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.997213152337426	0.874
18	60033996	A	T	18	62366763	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999926882652802	0.96
18	60033997	G	A	18	62366764	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.23264310177486E-5	0.05
18	60033997	G	C	18	62366764	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.28566951139622E-5	0.042
18	60033997	G	T	18	62366764	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.27257220636447E-5	0.002
18	60033998	A	C	18	62366765	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.47081799717023E-4	0.062
18	60033998	A	G	18	62366765	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.14104765768483E-4	0.116
18	60033998	A	T	18	62366765	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00193713773808257	0.056
18	60033999	G	A	18	62366766	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.15083839393264E-4	0.018
18	60033999	G	C	18	62366766	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.33684132930441E-4	0.026
18	60033999	G	T	18	62366766	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.62301460255262E-5	0.036
18	60034000	T	A	18	62366767	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.59779440544653E-4	0.036
18	60034000	T	C	18	62366767	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.34040506063013E-4	0.014
18	60034000	T	G	18	62366767	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.84779987422885E-4	0.014
18	60034001	G	A	18	62366768	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.58425657726286E-4	0.004
18	60034001	G	C	18	62366768	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	6.37086006091687E-5	0.004
18	60034001	G	T	18	62366768	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.26645735140438E-5	0.02
18	60035922	G	A	18	62368689	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.48143609761115E-5	0.0
18	60035922	G	C	18	62368689	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.55851216052398E-5	0.014
18	60035922	G	T	18	62368689	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.55851216052398E-5	0.016
18	60035923	T	A	18	62368690	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.936947608488316	0.628
18	60035923	T	C	18	62368690	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.407145396922824	0.472
18	60035923	T	G	18	62368690	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.936947608488316	0.59
18	60035924	A	C	18	62368691	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.69597282619581E-5	0.02
18	60035924	A	G	18	62368691	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	9.08013551391836E-6	0.01
18	60035924	A	T	18	62368691	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.69597282619581E-5	0.014
18	60035925	A	C	18	62368692	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.59340463161002E-5	0.032
18	60035925	A	G	18	62368692	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.810693631100015	0.772
18	60035925	A	T	18	62368692	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.08387233757793E-5	0.012
18	60035926	A	C	18	62368693	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.29934020971506E-4	0.036
18	60035926	A	G	18	62368693	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.998156526303511	0.96
18	60035926	A	T	18	62368693	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.15652452950698E-4	0.042
18	60035927	T	A	18	62368694	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.634923996051218	0.522
18	60035927	T	C	18	62368694	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.18349976037755E-5	0.028
18	60035927	T	G	18	62368694	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.99902438810126	0.984
18	60035928	C	A	18	62368695	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.976679656238706	0.932
18	60035928	C	G	18	62368695	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.015158346393086	0.386
18	60035928	C	T	18	62368695	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.23378476970428E-5	0.026
18	60035929	G	A	18	62368696	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.649966995989385	0.802
18	60035929	G	C	18	62368696	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.3114220936962E-5	0.008
18	60035929	G	T	18	62368696	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.3114220936962E-5	0.014
18	60035930	G	A	18	62368697	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.20006774439649E-4	0.052
18	60035930	G	C	18	62368697	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.79948075160513E-5	0.026
18	60035930	G	T	18	62368697	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0155626619047846	0.092
18	60035931	C	A	18	62368698	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999300812433726	0.872
18	60035931	C	G	18	62368698	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999716644372199	0.738
18	60035931	C	T	18	62368698	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.559397838151276	0.496
18	60035932	A	C	18	62368699	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.742-2A>C;NM_003839:exon9:c.784-2A>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.784-2A>C)	.	.	0.999894694995191	0.864
18	60035932	A	G	18	62368699	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.742-2A>G;NM_003839:exon9:c.784-2A>G)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.784-2A>G)	.	.	0.999894694995191	0.864
18	60035932	A	T	18	62368699	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.742-2A>T;NM_003839:exon9:c.784-2A>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.784-2A>T)	.	.	0.999894694995191	0.864
18	60035933	G	A	18	62368700	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.742-1G>A;NM_003839:exon9:c.784-1G>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.784-1G>A)	.	.	0.999737517898127	0.83
18	60035933	G	C	18	62368700	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.742-1G>C;NM_003839:exon9:c.784-1G>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.784-1G>C)	.	.	0.999737517898127	0.794
18	60035933	G	T	18	62368700	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.742-1G>T;NM_003839:exon9:c.784-1G>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.784-1G>T)	.	.	0.999737517898127	0.822
18	60035934	G	A	18	62368701	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.G784A:p.E262K;TNFRSF11A:NM_001278268:exon9:c.G742A:p.E248K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.G784A:p.E262K;	0.999439661032438	0.876
18	60035934	G	C	18	62368701	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.G784C:p.E262Q;TNFRSF11A:NM_001278268:exon9:c.G742C:p.E248Q;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.G784C:p.E262Q;	0.999779878893789	0.852
18	60035934	G	T	18	62368701	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_003839:exon9:c.G784T:p.E262X;TNFRSF11A:NM_001278268:exon9:c.G742T:p.E248X;	exonic	ENSG00000141655	stopgain SNV	ENSG00000141655:ENST00000586569:exon9:c.G784T:p.E262X;	0.999949473517634	0.914
18	60035935	A	C	18	62368702	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.A785C:p.E262A;TNFRSF11A:NM_001278268:exon9:c.A743C:p.E248A;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.A785C:p.E262A;	3.23103356981108E-4	0.156
18	60035935	A	G	18	62368702	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.A785G:p.E262G;TNFRSF11A:NM_001278268:exon9:c.A743G:p.E248G;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.A785G:p.E262G;	2.33887932929475E-5	0.13
18	60035935	A	T	18	62368702	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.A785T:p.E262V;TNFRSF11A:NM_001278268:exon9:c.A743T:p.E248V;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.A785T:p.E262V;	2.8758304190384E-4	0.096
18	60036715	C	A	18	62369482	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.C1565A:p.S522Y;TNFRSF11A:NM_001278268:exon9:c.C1523A:p.S508Y;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.C1565A:p.S522Y;	0.822158258021239	0.754
18	60036715	C	G	18	62369482	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.C1565G:p.S522C;TNFRSF11A:NM_001278268:exon9:c.C1523G:p.S508C;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.C1565G:p.S522C;	0.71974522317382	0.526
18	60036715	C	T	18	62369482	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.C1565T:p.S522F;TNFRSF11A:NM_001278268:exon9:c.C1523T:p.S508F;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.C1565T:p.S522F;	0.97928726013397	0.586
18	60036716	T	A	18	62369483	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_003839:exon9:c.T1566A:p.S522S;TNFRSF11A:NM_001278268:exon9:c.T1524A:p.S508S;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.T1566A:p.S522S;	2.50904065153952E-4	0.118
18	60036716	T	C	18	62369483	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_003839:exon9:c.T1566C:p.S522S;TNFRSF11A:NM_001278268:exon9:c.T1524C:p.S508S;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.T1566C:p.S522S;	4.72013296596695E-4	0.014
18	60036716	T	G	18	62369483	y	y	exonic	TNFRSF11A	synonymous SNV	TNFRSF11A:NM_003839:exon9:c.T1566G:p.S522S;TNFRSF11A:NM_001278268:exon9:c.T1524G:p.S508S;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.T1566G:p.S522S;	7.21146257957199E-4	0.042
18	60036717	G	A	18	62369484	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.G1567A:p.G523R;TNFRSF11A:NM_001278268:exon9:c.G1525A:p.G509R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.G1567A:p.G523R;	0.999599867182991	0.972
18	60036717	G	C	18	62369484	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_003839:exon9:c.G1567C:p.G523R;TNFRSF11A:NM_001278268:exon9:c.G1525C:p.G509R;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon9:c.G1567C:p.G523R;	0.999817403146545	0.982
18	60036717	G	T	18	62369484	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_003839:exon9:c.G1567T:p.G523X;TNFRSF11A:NM_001278268:exon9:c.G1525T:p.G509X;	exonic	ENSG00000141655	stopgain SNV	ENSG00000141655:ENST00000586569:exon9:c.G1567T:p.G523X;	0.999802435836289	0.972
18	60036718	G	A	18	62369485	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.1525+1G>A;NM_003839:exon9:c.1567+1G>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.1567+1G>A)	.	.	0.999986675681007	0.934
18	60036718	G	C	18	62369485	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.1525+1G>C;NM_003839:exon9:c.1567+1G>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.1567+1G>C)	.	.	0.999986675681007	0.932
18	60036718	G	T	18	62369485	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.1525+1G>T;NM_003839:exon9:c.1567+1G>T)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.1567+1G>T)	.	.	0.999986675681007	0.932
18	60036719	T	A	18	62369486	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.1525+2T>A;NM_003839:exon9:c.1567+2T>A)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.1567+2T>A)	.	.	0.999990155693597	0.928
18	60036719	T	C	18	62369486	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.1525+2T>C;NM_003839:exon9:c.1567+2T>C)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.1567+2T>C)	.	.	0.978494574298029	0.606
18	60036719	T	G	18	62369486	y	y	splicing	TNFRSF11A(NM_001278268:exon9:c.1525+2T>G;NM_003839:exon9:c.1567+2T>G)	.	.	splicing	ENSG00000141655(ENST00000586569:exon9:c.1567+2T>G)	.	.	0.999990155693597	0.926
18	60036720	A	C	18	62369487	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.993521567162802	0.862
18	60036720	A	G	18	62369487	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00304214286936648	0.138
18	60036720	A	T	18	62369487	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.994907868007398	0.846
18	60036721	A	C	18	62369488	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.931132556588404	0.694
18	60036721	A	G	18	62369488	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.962514043739417	0.718
18	60036721	A	T	18	62369488	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.994519217319436	0.81
18	60036722	G	A	18	62369489	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.998791070307573	0.87
18	60036722	G	C	18	62369489	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.997971570381634	0.882
18	60036722	G	T	18	62369489	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.997888545324135	0.946
18	60036723	T	A	18	62369490	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.566349352250707	0.434
18	60036723	T	C	18	62369490	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.549678048012622	0.432
18	60036723	T	G	18	62369490	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.391698165462047	0.288
18	60036724	G	A	18	62369491	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.54064048518761E-4	0.022
18	60036724	G	C	18	62369491	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.22143811925334E-4	0.016
18	60036724	G	T	18	62369491	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.80151784508298E-4	0.006
18	60036725	A	C	18	62369492	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.54768350943723E-4	0.002
18	60036725	A	G	18	62369492	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.72752062183182E-5	0.004
18	60036725	A	T	18	62369492	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.40408034059996E-4	0.0
18	60051972	C	A	18	62384739	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	8.45376017709341E-4	0.02
18	60051972	C	G	18	62384739	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.9351980058359E-4	0.014
18	60051972	C	T	18	62384739	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.27904287385283E-4	0.022
18	60051973	T	A	18	62384740	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.7792617534895E-4	0.096
18	60051973	T	C	18	62384740	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.03383582782257E-4	0.072
18	60051973	T	G	18	62384740	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.40661634527411E-4	0.104
18	60051974	C	A	18	62384741	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	6.24922065252483E-4	0.038
18	60051974	C	G	18	62384741	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.95328438599606E-4	0.038
18	60051974	C	T	18	62384741	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.92883679557131E-5	0.0
18	60051975	T	A	18	62384742	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.85541733303292E-4	0.052
18	60051975	T	C	18	62384742	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	4.51565747965282E-5	0.008
18	60051975	T	G	18	62384742	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	3.71265548785889E-4	0.062
18	60051976	C	A	18	62384743	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00178446580472576	0.064
18	60051976	C	G	18	62384743	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.45321893227163E-4	0.022
18	60051976	C	T	18	62384743	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	5.46152447774918E-5	0.0
18	60051977	C	A	18	62384744	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00508098688149986	0.222
18	60051977	C	G	18	62384744	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00286080730718721	0.192
18	60051977	C	T	18	62384744	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	7.01173995977977E-4	0.022
18	60051978	C	A	18	62384745	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00143001384422047	0.084
18	60051978	C	G	18	62384745	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00117574455298912	0.082
18	60051978	C	T	18	62384745	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	6.14140622639598E-5	0.0
18	60051979	C	A	18	62384746	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.422542578974184	0.588
18	60051979	C	G	18	62384746	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	2.34574663691848E-4	0.018
18	60051979	C	T	18	62384746	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	1.60469022502353E-5	0.004
18	60051980	G	A	18	62384747	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0298446570688439	0.054
18	60051980	G	C	18	62384747	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00507594875316926	0.04
18	60051980	G	T	18	62384747	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.0276101831549555	0.15
18	60051981	C	A	18	62384748	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.637413280413554	0.33
18	60051981	C	G	18	62384748	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.999802667407372	0.886
18	60051981	C	T	18	62384748	y	y	intronic	TNFRSF11A	.	.	intronic	ENSG00000141655	.	.	0.00609920256585825	0.054
18	60051982	A	C	18	62384749	y	y	splicing	TNFRSF11A(NM_001278268:exon10:c.1526-2A>C;NM_001270951:exon7:c.617-2A>C;NM_001270950:exon8:c.731-2A>C;NM_001270949:exon9:c.784-2A>C;NM_003839:exon10:c.1568-2A>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon7:c.617-2A>C;ENST00000586569:exon10:c.1568-2A>C)	.	.	0.999993672935256	0.93
18	60051982	A	G	18	62384749	y	y	splicing	TNFRSF11A(NM_001278268:exon10:c.1526-2A>G;NM_001270951:exon7:c.617-2A>G;NM_001270950:exon8:c.731-2A>G;NM_001270949:exon9:c.784-2A>G;NM_003839:exon10:c.1568-2A>G)	.	.	splicing	ENSG00000141655(ENST00000269485:exon7:c.617-2A>G;ENST00000586569:exon10:c.1568-2A>G)	.	.	0.999993672935256	0.93
18	60051982	A	T	18	62384749	y	y	splicing	TNFRSF11A(NM_001278268:exon10:c.1526-2A>T;NM_001270951:exon7:c.617-2A>T;NM_001270950:exon8:c.731-2A>T;NM_001270949:exon9:c.784-2A>T;NM_003839:exon10:c.1568-2A>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon7:c.617-2A>T;ENST00000586569:exon10:c.1568-2A>T)	.	.	0.999993672935256	0.93
18	60051983	G	A	18	62384750	y	y	splicing	TNFRSF11A(NM_001278268:exon10:c.1526-1G>A;NM_001270951:exon7:c.617-1G>A;NM_001270950:exon8:c.731-1G>A;NM_001270949:exon9:c.784-1G>A;NM_003839:exon10:c.1568-1G>A)	.	.	splicing	ENSG00000141655(ENST00000269485:exon7:c.617-1G>A;ENST00000586569:exon10:c.1568-1G>A)	.	.	0.999988247793601	0.932
18	60051983	G	C	18	62384750	y	y	splicing	TNFRSF11A(NM_001278268:exon10:c.1526-1G>C;NM_001270951:exon7:c.617-1G>C;NM_001270950:exon8:c.731-1G>C;NM_001270949:exon9:c.784-1G>C;NM_003839:exon10:c.1568-1G>C)	.	.	splicing	ENSG00000141655(ENST00000269485:exon7:c.617-1G>C;ENST00000586569:exon10:c.1568-1G>C)	.	.	0.999988247793601	0.932
18	60051983	G	T	18	62384750	y	y	splicing	TNFRSF11A(NM_001278268:exon10:c.1526-1G>T;NM_001270951:exon7:c.617-1G>T;NM_001270950:exon8:c.731-1G>T;NM_001270949:exon9:c.784-1G>T;NM_003839:exon10:c.1568-1G>T)	.	.	splicing	ENSG00000141655(ENST00000269485:exon7:c.617-1G>T;ENST00000586569:exon10:c.1568-1G>T)	.	.	0.999988247793601	0.932
18	60051984	G	A	18	62384751	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon7:c.G617A:p.G206E;TNFRSF11A:NM_001270950:exon8:c.G731A:p.G244E;TNFRSF11A:NM_003839:exon10:c.G1568A:p.G523E;TNFRSF11A:NM_001278268:exon10:c.G1526A:p.G509E;TNFRSF11A:NM_001270949:exon9:c.G784A:p.E262K;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon10:c.G1568A:p.G523E;ENSG00000141655:ENST00000269485:exon7:c.G617A:p.G206E;	0.970765299306233	0.718
18	60051984	G	C	18	62384751	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270951:exon7:c.G617C:p.G206A;TNFRSF11A:NM_001270950:exon8:c.G731C:p.G244A;TNFRSF11A:NM_003839:exon10:c.G1568C:p.G523A;TNFRSF11A:NM_001278268:exon10:c.G1526C:p.G509A;TNFRSF11A:NM_001270949:exon9:c.G784C:p.E262Q;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon10:c.G1568C:p.G523A;ENSG00000141655:ENST00000269485:exon7:c.G617C:p.G206A;	0.998388115435652	0.88
18	60051984	G	T	18	62384751	y	y	exonic	TNFRSF11A	stopgain SNV	TNFRSF11A:NM_001270949:exon9:c.G784T:p.E262X;	exonic	ENSG00000141655	nonsynonymous SNV	ENSG00000141655:ENST00000586569:exon10:c.G1568T:p.G523V;ENSG00000141655:ENST00000269485:exon7:c.G617T:p.G206V;	0.998496126610291	0.886
18	60051985	A	C	18	62384752	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270949:exon9:c.A785C:p.E262A;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon10:c.A1569C:p.G523G;ENSG00000141655:ENST00000269485:exon7:c.A618C:p.G206G;	3.80887412203639E-4	0.014
18	60051985	A	G	18	62384752	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270949:exon9:c.A785G:p.E262G;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon10:c.A1569G:p.G523G;ENSG00000141655:ENST00000269485:exon7:c.A618G:p.G206G;	1.4441252966619E-4	0.07
18	60051985	A	T	18	62384752	y	y	exonic	TNFRSF11A	nonsynonymous SNV	TNFRSF11A:NM_001270949:exon9:c.A785T:p.E262V;	exonic	ENSG00000141655	synonymous SNV	ENSG00000141655:ENST00000586569:exon10:c.A1569T:p.G523G;ENSG00000141655:ENST00000269485:exon7:c.A618T:p.G206G;	9.32031663993448E-5	0.036
18	60191594	C	A	18	62524361	y	n	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.C937A:p.Q313K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon1:c.C937A:p.Q313K;	0.00813814576153491	0.08
18	60191594	C	G	18	62524361	y	n	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.C937G:p.Q313E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon1:c.C937G:p.Q313E;	9.58271080528324E-4	0.012
18	60191594	C	T	18	62524361	y	n	exonic	ZCCHC2	stopgain SNV	ZCCHC2:NM_017742:exon1:c.C937T:p.Q313X;	exonic	ENSG00000141664	stopgain SNV	ENSG00000141664:ENST00000269499:exon1:c.C937T:p.Q313X;	0.126241574053051	0.428
18	60191595	A	C	18	62524362	y	n	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.A938C:p.Q313P;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon1:c.A938C:p.Q313P;	0.969195461539475	0.802
18	60191595	A	G	18	62524362	y	n	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.A938G:p.Q313R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon1:c.A938G:p.Q313R;	0.866999919945219	0.712
18	60191595	A	T	18	62524362	y	n	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.A938T:p.Q313L;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon1:c.A938T:p.Q313L;	0.975794985527066	0.57
18	60191596	G	A	18	62524363	y	n	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon1:c.G939A:p.Q313Q;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000269499:exon1:c.G939A:p.Q313Q;	0.993389450948118	0.922
18	60191596	G	C	18	62524363	y	n	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.G939C:p.Q313H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon1:c.G939C:p.Q313H;	0.999220176957104	0.95
18	60191596	G	T	18	62524363	y	n	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.G939T:p.Q313H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon1:c.G939T:p.Q313H;	0.998925066868211	0.94
18	60191597	G	A	18	62524364	y	n	splicing	ZCCHC2(NM_017742:exon1:c.939+1G>A)	.	.	exonic;splicing	ENSG00000141664;ENSG00000141664(ENST00000269499:exon1:c.939+1G>A;ENST00000585873:exon1:c.697+1G>A)	unknown	UNKNOWN	0.999988568935494	0.926
18	60191597	G	C	18	62524364	y	n	splicing	ZCCHC2(NM_017742:exon1:c.939+1G>C)	.	.	exonic;splicing	ENSG00000141664;ENSG00000141664(ENST00000269499:exon1:c.939+1G>C;ENST00000585873:exon1:c.697+1G>C)	unknown	UNKNOWN	0.999988568935494	0.924
18	60191597	G	T	18	62524364	y	n	splicing	ZCCHC2(NM_017742:exon1:c.939+1G>T)	.	.	exonic;splicing	ENSG00000141664;ENSG00000141664(ENST00000269499:exon1:c.939+1G>T;ENST00000585873:exon1:c.697+1G>T)	unknown	UNKNOWN	0.999988568935494	0.926
18	60191598	T	A	18	62524365	y	n	splicing	ZCCHC2(NM_017742:exon1:c.939+2T>A)	.	.	exonic;splicing	ENSG00000141664;ENSG00000141664(ENST00000269499:exon1:c.939+2T>A;ENST00000585873:exon1:c.697+2T>A)	unknown	UNKNOWN	0.999990155693597	0.928
18	60191598	T	C	18	62524365	y	n	splicing	ZCCHC2(NM_017742:exon1:c.939+2T>C)	.	.	exonic;splicing	ENSG00000141664;ENSG00000141664(ENST00000269499:exon1:c.939+2T>C;ENST00000585873:exon1:c.697+2T>C)	unknown	UNKNOWN	0.980894216593405	0.584
18	60191598	T	G	18	62524365	y	n	splicing	ZCCHC2(NM_017742:exon1:c.939+2T>G)	.	.	exonic;splicing	ENSG00000141664;ENSG00000141664(ENST00000269499:exon1:c.939+2T>G;ENST00000585873:exon1:c.697+2T>G)	unknown	UNKNOWN	0.999990155693597	0.926
18	60191599	A	C	18	62524366	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.998357502342879	0.96
18	60191599	A	G	18	62524366	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.393529059140705	0.274
18	60191599	A	T	18	62524366	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.997494302151255	0.952
18	60191600	A	C	18	62524367	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.085756586061618	0.33
18	60191600	A	G	18	62524367	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.436635316379359	0.398
18	60191600	A	T	18	62524367	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.107252307540323	0.284
18	60191601	G	A	18	62524368	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.776906714500357	0.628
18	60191601	G	C	18	62524368	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.541000151089041	0.476
18	60191601	G	T	18	62524368	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.87967919630357	0.53
18	60191602	G	A	18	62524369	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.00360983029506576	0.072
18	60191602	G	C	18	62524369	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.00434166303479734	0.182
18	60191602	G	T	18	62524369	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	0.00130526730663681	0.01
18	60191603	C	A	18	62524370	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	1.45204556660269E-4	0.016
18	60191603	C	G	18	62524370	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	1.67584968863612E-4	0.006
18	60191603	C	T	18	62524370	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	1.67584968863612E-4	0.006
18	60191604	G	A	18	62524371	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	8.94951672584391E-5	0.002
18	60191604	G	C	18	62524371	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	1.17832329366046E-4	0.006
18	60191604	G	T	18	62524371	y	n	intronic	ZCCHC2	.	.	exonic	ENSG00000141664	unknown	UNKNOWN	1.04957457901873E-4	0.03
18	60206902	T	A	18	62539669	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.222756951661146	0.364
18	60206902	T	C	18	62539669	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.00494162970500893	0.114
18	60206902	T	G	18	62539669	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.14101806697618	0.352
18	60206903	T	A	18	62539670	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.0392303510665722	0.41
18	60206903	T	C	18	62539670	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.00130667729262588	0.138
18	60206903	T	G	18	62539670	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.0181631402726989	0.328
18	60206904	T	A	18	62539671	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.173339936241585	0.392
18	60206904	T	C	18	62539671	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.00350451427576756	0.122
18	60206904	T	G	18	62539671	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.0608310621514721	0.304
18	60206905	C	A	18	62539672	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	1.35679424041569E-4	0.06
18	60206905	C	G	18	62539672	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	2.39864636727089E-4	0.126
18	60206905	C	T	18	62539672	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	9.30918428028812E-5	0.114
18	60206906	T	A	18	62539673	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.0231487339999131	0.13
18	60206906	T	C	18	62539673	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.0100281789493854	0.166
18	60206906	T	G	18	62539673	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.0663918409039298	0.122
18	60206907	C	A	18	62539674	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.00121104434891426	0.074
18	60206907	C	G	18	62539674	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	3.07010882664511E-4	0.074
18	60206907	C	T	18	62539674	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	4.92944070776397E-5	0.002
18	60206908	A	C	18	62539675	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	3.0366693660723E-5	0.018
18	60206908	A	G	18	62539675	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	1.87827760753853E-4	0.032
18	60206908	A	T	18	62539675	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	3.00941470566026E-5	0.042
18	60206909	T	A	18	62539676	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.00450254514514312	0.222
18	60206909	T	C	18	62539676	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	3.81893101949867E-4	0.028
18	60206909	T	G	18	62539676	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.99978791546158	0.906
18	60206910	C	A	18	62539677	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.00117918791748424	0.01
18	60206910	C	G	18	62539677	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.00115724548153856	0.004
18	60206910	C	T	18	62539677	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	6.1750169356685E-4	0.006
18	60206911	T	A	18	62539678	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.582235844015225	0.372
18	60206911	T	C	18	62539678	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	1.30110197616375E-4	0.0
18	60206911	T	G	18	62539678	y	y	intronic	ZCCHC2	.	.	UTR5	ENSG00000141664	.	.	0.998941692749398	0.804
18	60206912	A	C	18	62539679	y	y	splicing	ZCCHC2(NM_017742:exon2:c.940-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.940-2A>C;ENST00000585873:exon2:c.698-2A>C)	.	.	0.999988247793601	0.928
18	60206912	A	G	18	62539679	y	y	splicing	ZCCHC2(NM_017742:exon2:c.940-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.940-2A>G;ENST00000585873:exon2:c.698-2A>G)	.	.	0.999988247793601	0.928
18	60206912	A	T	18	62539679	y	y	splicing	ZCCHC2(NM_017742:exon2:c.940-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.940-2A>T;ENST00000585873:exon2:c.698-2A>T)	.	.	0.999988247793601	0.928
18	60206913	G	A	18	62539680	y	y	splicing	ZCCHC2(NM_017742:exon2:c.940-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.940-1G>A;ENST00000585873:exon2:c.698-1G>A)	.	.	0.999990361384395	0.938
18	60206913	G	C	18	62539680	y	y	splicing	ZCCHC2(NM_017742:exon2:c.940-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.940-1G>C;ENST00000585873:exon2:c.698-1G>C)	.	.	0.999990361384395	0.938
18	60206913	G	T	18	62539680	y	y	splicing	ZCCHC2(NM_017742:exon2:c.940-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.940-1G>T;ENST00000585873:exon2:c.698-1G>T)	.	.	0.999990361384395	0.938
18	60206914	A	C	18	62539681	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A940C:p.N314H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon2:c.A940C:p.N314H;	0.689195784964148	0.568
18	60206914	A	G	18	62539681	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A940G:p.N314D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon2:c.A940G:p.N314D;	0.00133950129093498	0.018
18	60206914	A	T	18	62539681	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A940T:p.N314Y;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon2:c.A940T:p.N314Y;	0.614754291113762	0.54
18	60206915	A	C	18	62539682	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A941C:p.N314T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon2:c.A941C:p.N314T;	3.07232631272947E-4	0.002
18	60206915	A	G	18	62539682	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A941G:p.N314S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon2:c.A941G:p.N314S;	2.13599295068693E-4	0.03
18	60206915	A	T	18	62539682	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A941T:p.N314I;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000269499:exon2:c.A941T:p.N314I;	3.13853381196553E-5	0.004
18	60207023	A	C	18	62539790	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A1049C:p.E350A;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.A86C:p.E29A;ENSG00000141664:ENST00000269499:exon2:c.A1049C:p.E350A;	0.827037196448626	0.7
18	60207023	A	G	18	62539790	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A1049G:p.E350G;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.A86G:p.E29G;ENSG00000141664:ENST00000269499:exon2:c.A1049G:p.E350G;	0.466563535440539	0.482
18	60207023	A	T	18	62539790	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A1049T:p.E350V;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.A86T:p.E29V;ENSG00000141664:ENST00000269499:exon2:c.A1049T:p.E350V;	0.994441808568569	0.744
18	60207024	A	C	18	62539791	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A1050C:p.E350D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.A87C:p.E29D;ENSG00000141664:ENST00000269499:exon2:c.A1050C:p.E350D;	0.998953202168695	0.942
18	60207024	A	G	18	62539791	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon2:c.A1050G:p.E350E;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.A87G:p.E29E;ENSG00000141664:ENST00000269499:exon2:c.A1050G:p.E350E;	0.999360180704948	0.984
18	60207024	A	T	18	62539791	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.A1050T:p.E350D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.A87T:p.E29D;ENSG00000141664:ENST00000269499:exon2:c.A1050T:p.E350D;	0.999832640863262	0.99
18	60207025	G	A	18	62539792	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.G1051A:p.A351T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.G88A:p.A30T;ENSG00000141664:ENST00000269499:exon2:c.G1051A:p.A351T;	0.999982162778314	0.992
18	60207025	G	C	18	62539792	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.G1051C:p.A351P;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.G88C:p.A30P;ENSG00000141664:ENST00000269499:exon2:c.G1051C:p.A351P;	0.99999721398396	1.0
18	60207025	G	T	18	62539792	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon2:c.G1051T:p.A351S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon1:c.G88T:p.A30S;ENSG00000141664:ENST00000269499:exon2:c.G1051T:p.A351S;	0.999972963356687	0.982
18	60207026	G	A	18	62539793	y	y	splicing	ZCCHC2(NM_017742:exon2:c.1051+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.1051+1G>A;ENST00000585873:exon2:c.809+1G>A;ENST00000586834:exon1:c.88+1G>A)	.	.	0.999990361384395	0.938
18	60207026	G	C	18	62539793	y	y	splicing	ZCCHC2(NM_017742:exon2:c.1051+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.1051+1G>C;ENST00000585873:exon2:c.809+1G>C;ENST00000586834:exon1:c.88+1G>C)	.	.	0.999990361384395	0.938
18	60207026	G	T	18	62539793	y	y	splicing	ZCCHC2(NM_017742:exon2:c.1051+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.1051+1G>T;ENST00000585873:exon2:c.809+1G>T;ENST00000586834:exon1:c.88+1G>T)	.	.	0.999990361384395	0.938
18	60207027	T	A	18	62539794	y	y	splicing	ZCCHC2(NM_017742:exon2:c.1051+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.1051+2T>A;ENST00000585873:exon2:c.809+2T>A;ENST00000586834:exon1:c.88+2T>A)	.	.	0.999988247793601	0.93
18	60207027	T	C	18	62539794	y	y	splicing	ZCCHC2(NM_017742:exon2:c.1051+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.1051+2T>C;ENST00000585873:exon2:c.809+2T>C;ENST00000586834:exon1:c.88+2T>C)	.	.	0.995320650369382	0.712
18	60207027	T	G	18	62539794	y	y	splicing	ZCCHC2(NM_017742:exon2:c.1051+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon2:c.1051+2T>G;ENST00000585873:exon2:c.809+2T>G;ENST00000586834:exon1:c.88+2T>G)	.	.	0.999988247793601	0.93
18	60207028	A	C	18	62539795	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.995252664245898	0.88
18	60207028	A	G	18	62539795	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.990012116320651	0.878
18	60207028	A	T	18	62539795	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998470466654632	0.91
18	60207029	T	A	18	62539796	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.69958342995042E-4	0.094
18	60207029	T	C	18	62539796	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0154614188174954	0.094
18	60207029	T	G	18	62539796	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.74083991831294E-4	0.016
18	60207030	G	A	18	62539797	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998158806126919	0.786
18	60207030	G	C	18	62539797	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99923295634774	0.84
18	60207030	G	T	18	62539797	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999885359406076	0.834
18	60207031	C	A	18	62539798	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.31718805366172E-4	0.022
18	60207031	C	G	18	62539798	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.50420328389076E-4	0.024
18	60207031	C	T	18	62539798	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.17463008259402E-4	0.01
18	60207032	T	A	18	62539799	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00641266220943717	0.042
18	60207032	T	C	18	62539799	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00533191780166125	0.044
18	60207032	T	G	18	62539799	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00641266220943717	0.038
18	60207033	C	A	18	62539800	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.49427324106616E-5	0.01
18	60207033	C	G	18	62539800	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.7168103112445E-5	0.012
18	60207033	C	T	18	62539800	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.30812394747023E-5	0.018
18	60209719	T	A	18	62542486	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0187864338350352	0.36
18	60209719	T	C	18	62542486	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00382868256572231	0.078
18	60209719	T	G	18	62542486	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00938204426011598	0.286
18	60209720	T	A	18	62542487	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00198682920340003	0.214
18	60209720	T	C	18	62542487	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.88175340082856E-4	0.062
18	60209720	T	G	18	62542487	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00132039475404594	0.21
18	60209721	T	A	18	62542488	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.733419331832222	0.598
18	60209721	T	C	18	62542488	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.331910389194707	0.524
18	60209721	T	G	18	62542488	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.517889370289424	0.542
18	60209722	T	A	18	62542489	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.17201351004498E-4	0.086
18	60209722	T	C	18	62542489	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.25855350681402E-4	0.024
18	60209722	T	G	18	62542489	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.27270107305228E-4	0.08
18	60209723	T	A	18	62542490	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00340294160577309	0.06
18	60209723	T	C	18	62542490	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.96388276994005E-4	0.008
18	60209723	T	G	18	62542490	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00177562945493861	0.046
18	60209724	C	A	18	62542491	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.835082956356E-4	0.062
18	60209724	C	G	18	62542491	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.79725926392446E-4	0.052
18	60209724	C	T	18	62542491	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.8960302911266E-4	0.008
18	60209725	T	A	18	62542492	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0246385954018403	0.146
18	60209725	T	C	18	62542492	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.20057423582444E-4	0.054
18	60209725	T	G	18	62542492	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0225423507188389	0.178
18	60209726	T	A	18	62542493	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0100779782999158	0.274
18	60209726	T	C	18	62542493	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0069110501587541	0.12
18	60209726	T	G	18	62542493	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00803522847943978	0.278
18	60209727	T	A	18	62542494	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.27228099211087	0.546
18	60209727	T	C	18	62542494	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0530187551399209	0.278
18	60209727	T	G	18	62542494	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.181614284968627	0.322
18	60209728	C	A	18	62542495	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999016989497148	0.78
18	60209728	C	G	18	62542495	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999971270423256	0.94
18	60209728	C	T	18	62542495	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.829091130182293	0.286
18	60209729	A	C	18	62542496	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1052-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1052-2A>C;ENST00000585873:exon3:c.810-2A>C;ENST00000586834:exon2:c.89-2A>C)	.	.	0.999988247793601	0.932
18	60209729	A	G	18	62542496	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1052-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1052-2A>G;ENST00000585873:exon3:c.810-2A>G;ENST00000586834:exon2:c.89-2A>G)	.	.	0.999988247793601	0.932
18	60209729	A	T	18	62542496	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1052-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1052-2A>T;ENST00000585873:exon3:c.810-2A>T;ENST00000586834:exon2:c.89-2A>T)	.	.	0.999988247793601	0.932
18	60209730	G	A	18	62542497	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1052-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1052-1G>A;ENST00000585873:exon3:c.810-1G>A;ENST00000586834:exon2:c.89-1G>A)	.	.	0.999990361384395	0.938
18	60209730	G	C	18	62542497	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1052-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1052-1G>C;ENST00000585873:exon3:c.810-1G>C;ENST00000586834:exon2:c.89-1G>C)	.	.	0.999990361384395	0.938
18	60209730	G	T	18	62542497	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1052-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1052-1G>T;ENST00000585873:exon3:c.810-1G>T;ENST00000586834:exon2:c.89-1G>T)	.	.	0.999990361384395	0.938
18	60209731	C	A	18	62542498	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.C1052A:p.A351D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.C89A:p.A30D;ENSG00000141664:ENST00000269499:exon3:c.C1052A:p.A351D;	0.971538625989729	0.818
18	60209731	C	G	18	62542498	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.C1052G:p.A351G;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.C89G:p.A30G;ENSG00000141664:ENST00000269499:exon3:c.C1052G:p.A351G;	0.957909675724262	0.758
18	60209731	C	T	18	62542498	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.C1052T:p.A351V;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.C89T:p.A30V;ENSG00000141664:ENST00000269499:exon3:c.C1052T:p.A351V;	0.989522563104423	0.856
18	60209732	T	A	18	62542499	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon3:c.T1053A:p.A351A;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.T90A:p.A30A;ENSG00000141664:ENST00000269499:exon3:c.T1053A:p.A351A;	0.00218734763378301	0.038
18	60209732	T	C	18	62542499	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon3:c.T1053C:p.A351A;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.T90C:p.A30A;ENSG00000141664:ENST00000269499:exon3:c.T1053C:p.A351A;	0.00165378706923967	0.014
18	60209732	T	G	18	62542499	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon3:c.T1053G:p.A351A;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.T90G:p.A30A;ENSG00000141664:ENST00000269499:exon3:c.T1053G:p.A351A;	0.00134623191420952	0.014
18	60209805	A	C	18	62542572	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.A1126C:p.K376Q;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.A163C:p.K55Q;ENSG00000141664:ENST00000269499:exon3:c.A1126C:p.K376Q;	0.0300168934398453	0.212
18	60209805	A	G	18	62542572	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.A1126G:p.K376E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.A163G:p.K55E;ENSG00000141664:ENST00000269499:exon3:c.A1126G:p.K376E;	4.93286313581766E-4	0.046
18	60209805	A	T	18	62542572	y	y	exonic	ZCCHC2	stopgain SNV	ZCCHC2:NM_017742:exon3:c.A1126T:p.K376X;	exonic	ENSG00000141664	stopgain SNV	ENSG00000141664:ENST00000586834:exon2:c.A163T:p.K55X;ENSG00000141664:ENST00000269499:exon3:c.A1126T:p.K376X;	0.814963976884367	0.744
18	60209806	A	C	18	62542573	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.A1127C:p.K376T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.A164C:p.K55T;ENSG00000141664:ENST00000269499:exon3:c.A1127C:p.K376T;	0.999625300224231	0.986
18	60209806	A	G	18	62542573	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.A1127G:p.K376R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.A164G:p.K55R;ENSG00000141664:ENST00000269499:exon3:c.A1127G:p.K376R;	0.993689362476555	0.918
18	60209806	A	T	18	62542573	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.A1127T:p.K376I;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.A164T:p.K55I;ENSG00000141664:ENST00000269499:exon3:c.A1127T:p.K376I;	0.99980841487171	0.988
18	60209807	A	C	18	62542574	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.A1128C:p.K376N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.A165C:p.K55N;ENSG00000141664:ENST00000269499:exon3:c.A1128C:p.K376N;	0.0243176576022664	0.294
18	60209807	A	G	18	62542574	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon3:c.A1128G:p.K376K;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.A165G:p.K55K;ENSG00000141664:ENST00000269499:exon3:c.A1128G:p.K376K;	0.00107764244253803	0.098
18	60209807	A	T	18	62542574	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon3:c.A1128T:p.K376N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon2:c.A165T:p.K55N;ENSG00000141664:ENST00000269499:exon3:c.A1128T:p.K376N;	0.135545805226337	0.238
18	60209808	G	A	18	62542575	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1128+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1128+1G>A;ENST00000585873:exon3:c.886+1G>A;ENST00000586834:exon2:c.165+1G>A)	.	.	0.999990361384395	0.938
18	60209808	G	C	18	62542575	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1128+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1128+1G>C;ENST00000585873:exon3:c.886+1G>C;ENST00000586834:exon2:c.165+1G>C)	.	.	0.999990361384395	0.938
18	60209808	G	T	18	62542575	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1128+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1128+1G>T;ENST00000585873:exon3:c.886+1G>T;ENST00000586834:exon2:c.165+1G>T)	.	.	0.999990361384395	0.938
18	60209809	T	A	18	62542576	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1128+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1128+2T>A;ENST00000585873:exon3:c.886+2T>A;ENST00000586834:exon2:c.165+2T>A)	.	.	0.999988247793601	0.932
18	60209809	T	C	18	62542576	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1128+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1128+2T>C;ENST00000585873:exon3:c.886+2T>C;ENST00000586834:exon2:c.165+2T>C)	.	.	0.996388929962285	0.686
18	60209809	T	G	18	62542576	y	y	splicing	ZCCHC2(NM_017742:exon3:c.1128+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon3:c.1128+2T>G;ENST00000585873:exon3:c.886+2T>G;ENST00000586834:exon2:c.165+2T>G)	.	.	0.999988247793601	0.932
18	60209810	A	C	18	62542577	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999906383320006	0.924
18	60209810	A	G	18	62542577	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.937734100938212	0.65
18	60209810	A	T	18	62542577	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999929942613284	0.928
18	60209811	A	C	18	62542578	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998656999291286	0.832
18	60209811	A	G	18	62542578	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998923294355661	0.976
18	60209811	A	T	18	62542578	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999383296939918	0.956
18	60209812	G	A	18	62542579	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999989323993931	1.0
18	60209812	G	C	18	62542579	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999959783874511	0.938
18	60209812	G	T	18	62542579	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999984493604872	0.992
18	60209813	C	A	18	62542580	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00402759328910383	0.14
18	60209813	C	G	18	62542580	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0110498440611156	0.118
18	60209813	C	T	18	62542580	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00210510122945182	0.066
18	60209814	C	A	18	62542581	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.7462600956476E-4	0.0
18	60209814	C	G	18	62542581	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.62505828076044E-4	0.0
18	60209814	C	T	18	62542581	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.55528968002073E-4	0.036
18	60209815	A	C	18	62542582	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.07804976468356E-5	0.014
18	60209815	A	G	18	62542582	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.07804976468356E-5	0.016
18	60209815	A	T	18	62542582	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.67095039084353E-5	0.014
18	60212023	T	A	18	62544790	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99347805689874	0.674
18	60212023	T	C	18	62544790	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0309495017126059	0.11
18	60212023	T	G	18	62544790	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.802791776507926	0.518
18	60212024	T	A	18	62544791	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999506860206537	0.958
18	60212024	T	C	18	62544791	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998584513533749	0.664
18	60212024	T	G	18	62544791	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99955853243331	0.888
18	60212025	T	A	18	62544792	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99590019979741	0.684
18	60212025	T	C	18	62544792	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00704689450606399	0.094
18	60212025	T	G	18	62544792	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.941324314261264	0.63
18	60212026	T	A	18	62544793	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998939042233769	0.962
18	60212026	T	C	18	62544793	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.799538319315722	0.468
18	60212026	T	G	18	62544793	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999691214596636	0.952
18	60212027	T	A	18	62544794	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.894915390518616	0.582
18	60212027	T	C	18	62544794	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0258375812761558	0.14
18	60212027	T	G	18	62544794	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.547298447816789	0.578
18	60212028	A	C	18	62544795	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.59447957766768E-5	0.058
18	60212028	A	G	18	62544795	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.82987002598964E-4	0.11
18	60212028	A	T	18	62544795	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.18101382721663E-5	0.006
18	60212029	A	C	18	62544796	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.6432750398731E-4	0.036
18	60212029	A	G	18	62544796	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.996631791783409	0.836
18	60212029	A	T	18	62544796	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0010302455137818	0.028
18	60212030	A	C	18	62544797	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0013304551815275	0.02
18	60212030	A	G	18	62544797	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999338613949791	0.92
18	60212030	A	T	18	62544797	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00222557416558236	0.052
18	60212031	T	A	18	62544798	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.459755187989648	0.55
18	60212031	T	C	18	62544798	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.074906835443855	0.396
18	60212031	T	G	18	62544798	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.990513199726375	0.652
18	60212032	C	A	18	62544799	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.792997352982971	0.708
18	60212032	C	G	18	62544799	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999933441495452	0.952
18	60212032	C	T	18	62544799	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00311766079253437	0.094
18	60212033	A	C	18	62544800	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1129-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1129-2A>C;ENST00000585873:exon4:c.887-2A>C;ENST00000586834:exon3:c.166-2A>C)	.	.	0.999988247793601	0.954
18	60212033	A	G	18	62544800	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1129-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1129-2A>G;ENST00000585873:exon4:c.887-2A>G;ENST00000586834:exon3:c.166-2A>G)	.	.	0.999988247793601	0.954
18	60212033	A	T	18	62544800	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1129-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1129-2A>T;ENST00000585873:exon4:c.887-2A>T;ENST00000586834:exon3:c.166-2A>T)	.	.	0.999988247793601	0.954
18	60212034	G	A	18	62544801	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1129-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1129-1G>A;ENST00000585873:exon4:c.887-1G>A;ENST00000586834:exon3:c.166-1G>A)	.	.	0.999990361384395	0.952
18	60212034	G	C	18	62544801	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1129-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1129-1G>C;ENST00000585873:exon4:c.887-1G>C;ENST00000586834:exon3:c.166-1G>C)	.	.	0.999990361384395	0.952
18	60212034	G	T	18	62544801	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1129-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1129-1G>T;ENST00000585873:exon4:c.887-1G>T;ENST00000586834:exon3:c.166-1G>T)	.	.	0.999990361384395	0.952
18	60212035	G	A	18	62544802	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.G1129A:p.V377I;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.G166A:p.V56I;ENSG00000141664:ENST00000269499:exon4:c.G1129A:p.V377I;	0.999796234253337	0.86
18	60212035	G	C	18	62544802	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.G1129C:p.V377L;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.G166C:p.V56L;ENSG00000141664:ENST00000269499:exon4:c.G1129C:p.V377L;	0.999909883230426	0.98
18	60212035	G	T	18	62544802	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.G1129T:p.V377L;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.G166T:p.V56L;ENSG00000141664:ENST00000269499:exon4:c.G1129T:p.V377L;	0.999946829156355	0.996
18	60212036	T	A	18	62544803	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.T1130A:p.V377E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.T167A:p.V56E;ENSG00000141664:ENST00000269499:exon4:c.T1130A:p.V377E;	0.946257722644431	0.528
18	60212036	T	C	18	62544803	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.T1130C:p.V377A;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.T167C:p.V56A;ENSG00000141664:ENST00000269499:exon4:c.T1130C:p.V377A;	0.959574380690612	0.536
18	60212036	T	G	18	62544803	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.T1130G:p.V377G;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.T167G:p.V56G;ENSG00000141664:ENST00000269499:exon4:c.T1130G:p.V377G;	0.958613346113247	0.454
18	60212104	A	C	18	62544871	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.A1198C:p.K400Q;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.A235C:p.K79Q;ENSG00000141664:ENST00000269499:exon4:c.A1198C:p.K400Q;	0.912021460127347	0.818
18	60212104	A	G	18	62544871	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.A1198G:p.K400E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.A235G:p.K79E;ENSG00000141664:ENST00000269499:exon4:c.A1198G:p.K400E;	0.818069040991189	0.59
18	60212104	A	T	18	62544871	y	y	exonic	ZCCHC2	stopgain SNV	ZCCHC2:NM_017742:exon4:c.A1198T:p.K400X;	exonic	ENSG00000141664	stopgain SNV	ENSG00000141664:ENST00000586834:exon3:c.A235T:p.K79X;ENSG00000141664:ENST00000269499:exon4:c.A1198T:p.K400X;	0.999035548246013	0.854
18	60212105	A	C	18	62544872	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.A1199C:p.K400T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.A236C:p.K79T;ENSG00000141664:ENST00000269499:exon4:c.A1199C:p.K400T;	0.999873145778284	0.996
18	60212105	A	G	18	62544872	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.A1199G:p.K400R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.A236G:p.K79R;ENSG00000141664:ENST00000269499:exon4:c.A1199G:p.K400R;	0.999946086208028	0.99
18	60212105	A	T	18	62544872	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.A1199T:p.K400M;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.A236T:p.K79M;ENSG00000141664:ENST00000269499:exon4:c.A1199T:p.K400M;	0.999919016763419	0.998
18	60212106	G	A	18	62544873	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon4:c.G1200A:p.K400K;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.G237A:p.K79K;ENSG00000141664:ENST00000269499:exon4:c.G1200A:p.K400K;	0.999979952104076	0.998
18	60212106	G	C	18	62544873	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.G1200C:p.K400N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.G237C:p.K79N;ENSG00000141664:ENST00000269499:exon4:c.G1200C:p.K400N;	0.999998122414291	1.0
18	60212106	G	T	18	62544873	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon4:c.G1200T:p.K400N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon3:c.G237T:p.K79N;ENSG00000141664:ENST00000269499:exon4:c.G1200T:p.K400N;	0.999993018555097	1.0
18	60212107	G	A	18	62544874	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1200+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1200+1G>A;ENST00000585873:exon4:c.958+1G>A;ENST00000586834:exon3:c.237+1G>A)	.	.	0.999990361384395	0.938
18	60212107	G	C	18	62544874	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1200+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1200+1G>C;ENST00000585873:exon4:c.958+1G>C;ENST00000586834:exon3:c.237+1G>C)	.	.	0.999990361384395	0.938
18	60212107	G	T	18	62544874	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1200+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1200+1G>T;ENST00000585873:exon4:c.958+1G>T;ENST00000586834:exon3:c.237+1G>T)	.	.	0.999990361384395	0.938
18	60212108	T	A	18	62544875	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1200+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1200+2T>A;ENST00000585873:exon4:c.958+2T>A;ENST00000586834:exon3:c.237+2T>A)	.	.	0.999988247793601	0.93
18	60212108	T	C	18	62544875	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1200+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1200+2T>C;ENST00000585873:exon4:c.958+2T>C;ENST00000586834:exon3:c.237+2T>C)	.	.	0.99593384708436	0.706
18	60212108	T	G	18	62544875	y	y	splicing	ZCCHC2(NM_017742:exon4:c.1200+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon4:c.1200+2T>G;ENST00000585873:exon4:c.958+2T>G;ENST00000586834:exon3:c.237+2T>G)	.	.	0.999988247793601	0.93
18	60212109	A	C	18	62544876	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999884473072597	0.91
18	60212109	A	G	18	62544876	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99941174509469	0.918
18	60212109	A	T	18	62544876	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999877856768915	0.908
18	60212110	A	C	18	62544877	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.981163247508256	0.786
18	60212110	A	G	18	62544877	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.982210801530447	0.772
18	60212110	A	T	18	62544877	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.982621758567349	0.752
18	60212111	A	C	18	62544878	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.88211573470029E-4	0.082
18	60212111	A	G	18	62544878	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.39948503384306E-4	0.022
18	60212111	A	T	18	62544878	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.92746126502089E-4	0.05
18	60212112	A	C	18	62544879	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.78415662301256E-5	0.026
18	60212112	A	G	18	62544879	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.59656990767654E-5	0.002
18	60212112	A	T	18	62544879	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.65965658795311E-5	0.0
18	60212113	T	A	18	62544880	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0583605792194595	0.186
18	60212113	T	C	18	62544880	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0490655563135225	0.108
18	60212113	T	G	18	62544880	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0490655563135225	0.104
18	60212114	A	C	18	62544881	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.39308049908815E-4	0.002
18	60212114	A	G	18	62544881	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00389185087105503	0.004
18	60212114	A	T	18	62544881	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.2339034785163E-4	0.002
18	60217569	T	A	18	62550336	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0106981548979676	0.176
18	60217569	T	C	18	62550336	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00149087456150062	0.014
18	60217569	T	G	18	62550336	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.013601855544962	0.068
18	60217570	T	A	18	62550337	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.765533087337529	0.56
18	60217570	T	C	18	62550337	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0643494306968918	0.392
18	60217570	T	G	18	62550337	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.115165136083781	0.456
18	60217571	T	A	18	62550338	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00572864098591214	0.124
18	60217571	T	C	18	62550338	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.72168940132401E-4	0.014
18	60217571	T	G	18	62550338	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00998737996319353	0.12
18	60217572	C	A	18	62550339	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00249667235650227	0.05
18	60217572	C	G	18	62550339	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00192948218959657	0.034
18	60217572	C	T	18	62550339	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.49397093958581E-4	0.016
18	60217573	T	A	18	62550340	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00933337852026517	0.166
18	60217573	T	C	18	62550340	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.4654910283325E-4	0.016
18	60217573	T	G	18	62550340	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0072783578521241	0.21
18	60217574	T	A	18	62550341	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00633812120513355	0.156
18	60217574	T	C	18	62550341	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.63520642579296E-5	0.006
18	60217574	T	G	18	62550341	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.28835299779073E-4	0.102
18	60217575	T	A	18	62550342	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.161698602838874	0.218
18	60217575	T	C	18	62550342	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00348100414374765	0.062
18	60217575	T	G	18	62550342	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.149082569410013	0.22
18	60217576	T	A	18	62550343	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00693432197026294	0.174
18	60217576	T	C	18	62550343	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00119545292680618	0.084
18	60217576	T	G	18	62550343	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00633393425125061	0.182
18	60217577	C	A	18	62550344	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.02806869471799E-5	0.002
18	60217577	C	G	18	62550344	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.73386233754155E-4	0.0
18	60217577	C	T	18	62550344	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.11080796164821E-4	0.008
18	60217578	T	A	18	62550345	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00880474069064396	0.172
18	60217578	T	C	18	62550345	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.50381328067822E-4	0.004
18	60217578	T	G	18	62550345	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.847637357027749	0.674
18	60217579	A	C	18	62550346	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1201-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1201-2A>C;ENST00000585873:exon5:c.959-2A>C;ENST00000586834:exon4:c.238-2A>C)	.	.	0.999988247793601	0.93
18	60217579	A	G	18	62550346	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1201-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1201-2A>G;ENST00000585873:exon5:c.959-2A>G;ENST00000586834:exon4:c.238-2A>G)	.	.	0.999988247793601	0.93
18	60217579	A	T	18	62550346	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1201-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1201-2A>T;ENST00000585873:exon5:c.959-2A>T;ENST00000586834:exon4:c.238-2A>T)	.	.	0.999988247793601	0.93
18	60217580	G	A	18	62550347	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1201-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1201-1G>A;ENST00000585873:exon5:c.959-1G>A;ENST00000586834:exon4:c.238-1G>A)	.	.	0.999985532734767	0.938
18	60217580	G	C	18	62550347	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1201-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1201-1G>C;ENST00000585873:exon5:c.959-1G>C;ENST00000586834:exon4:c.238-1G>C)	.	.	0.999985532734767	0.938
18	60217580	G	T	18	62550347	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1201-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1201-1G>T;ENST00000585873:exon5:c.959-1G>T;ENST00000586834:exon4:c.238-1G>T)	.	.	0.999985532734767	0.938
18	60217581	C	A	18	62550348	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.C1201A:p.L401I;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.C238A:p.L80I;ENSG00000141664:ENST00000269499:exon5:c.C1201A:p.L401I;	0.946211729154713	0.768
18	60217581	C	G	18	62550348	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.C1201G:p.L401V;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.C238G:p.L80V;ENSG00000141664:ENST00000269499:exon5:c.C1201G:p.L401V;	0.615658667426904	0.526
18	60217581	C	T	18	62550348	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.C1201T:p.L401F;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.C238T:p.L80F;ENSG00000141664:ENST00000269499:exon5:c.C1201T:p.L401F;	0.993027257038639	0.938
18	60217582	T	A	18	62550349	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.T1202A:p.L401H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.T239A:p.L80H;ENSG00000141664:ENST00000269499:exon5:c.T1202A:p.L401H;	0.237621560321789	0.562
18	60217582	T	C	18	62550349	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.T1202C:p.L401P;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.T239C:p.L80P;ENSG00000141664:ENST00000269499:exon5:c.T1202C:p.L401P;	0.278440072017788	0.486
18	60217582	T	G	18	62550349	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.T1202G:p.L401R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.T239G:p.L80R;ENSG00000141664:ENST00000269499:exon5:c.T1202G:p.L401R;	0.31495287514592	0.516
18	60217691	A	C	18	62550458	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon5:c.A1311C:p.L437L;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.A348C:p.L116L;ENSG00000141664:ENST00000269499:exon5:c.A1311C:p.L437L;	1.38932985706117E-4	0.01
18	60217691	A	G	18	62550458	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon5:c.A1311G:p.L437L;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.A348G:p.L116L;ENSG00000141664:ENST00000269499:exon5:c.A1311G:p.L437L;	5.97747022024106E-4	0.03
18	60217691	A	T	18	62550458	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon5:c.A1311T:p.L437L;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.A348T:p.L116L;ENSG00000141664:ENST00000269499:exon5:c.A1311T:p.L437L;	0.133722354864253	0.478
18	60217692	A	C	18	62550459	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon5:c.A1312C:p.R438R;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.A349C:p.R117R;ENSG00000141664:ENST00000269499:exon5:c.A1312C:p.R438R;	0.999326081775842	0.984
18	60217692	A	G	18	62550459	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.A1312G:p.R438G;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.A349G:p.R117G;ENSG00000141664:ENST00000269499:exon5:c.A1312G:p.R438G;	0.999927391828299	0.998
18	60217692	A	T	18	62550459	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.A1312T:p.R438W;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.A349T:p.R117W;ENSG00000141664:ENST00000269499:exon5:c.A1312T:p.R438W;	0.999907684930886	1.0
18	60217693	G	A	18	62550460	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.G1313A:p.R438K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.G350A:p.R117K;ENSG00000141664:ENST00000269499:exon5:c.G1313A:p.R438K;	0.999993716863234	1.0
18	60217693	G	C	18	62550460	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.G1313C:p.R438T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.G350C:p.R117T;ENSG00000141664:ENST00000269499:exon5:c.G1313C:p.R438T;	0.999997528336746	1.0
18	60217693	G	T	18	62550460	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon5:c.G1313T:p.R438M;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon4:c.G350T:p.R117M;ENSG00000141664:ENST00000269499:exon5:c.G1313T:p.R438M;	0.99999006121748	1.0
18	60217694	G	A	18	62550461	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1313+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1313+1G>A;ENST00000585873:exon5:c.1071+1G>A;ENST00000586834:exon4:c.350+1G>A)	.	.	0.999985532734767	0.934
18	60217694	G	C	18	62550461	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1313+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1313+1G>C;ENST00000585873:exon5:c.1071+1G>C;ENST00000586834:exon4:c.350+1G>C)	.	.	0.999985532734767	0.934
18	60217694	G	T	18	62550461	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1313+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1313+1G>T;ENST00000585873:exon5:c.1071+1G>T;ENST00000586834:exon4:c.350+1G>T)	.	.	0.999985532734767	0.934
18	60217695	T	A	18	62550462	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1313+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1313+2T>A;ENST00000585873:exon5:c.1071+2T>A;ENST00000586834:exon4:c.350+2T>A)	.	.	0.999988247793601	0.926
18	60217695	T	C	18	62550462	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1313+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1313+2T>C;ENST00000585873:exon5:c.1071+2T>C;ENST00000586834:exon4:c.350+2T>C)	.	.	0.98918007292081	0.626
18	60217695	T	G	18	62550462	y	y	splicing	ZCCHC2(NM_017742:exon5:c.1313+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon5:c.1313+2T>G;ENST00000585873:exon5:c.1071+2T>G;ENST00000586834:exon4:c.350+2T>G)	.	.	0.999988247793601	0.922
18	60217696	A	C	18	62550463	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998392639600209	0.82
18	60217696	A	G	18	62550463	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.852157426743115	0.504
18	60217696	A	T	18	62550463	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.997924916939489	0.816
18	60217697	A	C	18	62550464	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.196945218436676	0.456
18	60217697	A	G	18	62550464	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.889987474718497	0.624
18	60217697	A	T	18	62550464	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0708153653089482	0.404
18	60217698	T	A	18	62550465	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.50527737589402E-5	0.022
18	60217698	T	C	18	62550465	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.45141637154884E-6	0.002
18	60217698	T	G	18	62550465	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.47038537649534E-5	0.018
18	60217699	G	A	18	62550466	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.94871648001731E-5	0.006
18	60217699	G	C	18	62550466	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.12534044035806E-5	0.042
18	60217699	G	T	18	62550466	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.84596801838551E-5	0.0
18	60217700	A	C	18	62550467	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.67735955014861E-6	0.0
18	60217700	A	G	18	62550467	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.93718364281858E-5	0.0
18	60217700	A	T	18	62550467	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.07128822237372E-5	0.002
18	60217701	T	A	18	62550468	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.59888895986844E-5	0.02
18	60217701	T	C	18	62550468	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.82241640620333E-5	0.016
18	60217701	T	G	18	62550468	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.39017419171811E-5	0.018
18	60223424	T	A	18	62556191	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0039480490823862	0.238
18	60223424	T	C	18	62556191	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.6552285415027E-5	0.01
18	60223424	T	G	18	62556191	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00264698193926641	0.224
18	60223425	T	A	18	62556192	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999100458414752	0.91
18	60223425	T	C	18	62556192	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.955381555741769	0.43
18	60223425	T	G	18	62556192	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999176067417977	0.832
18	60223426	T	A	18	62556193	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.418742781124964	0.468
18	60223426	T	C	18	62556193	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.03745597071201E-4	0.056
18	60223426	T	G	18	62556193	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.221202046955011	0.48
18	60223427	T	A	18	62556194	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.059527700932134	0.41
18	60223427	T	C	18	62556194	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.13734491913603E-5	0.026
18	60223427	T	G	18	62556194	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0210523133687665	0.376
18	60223428	A	C	18	62556195	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.41847422211688E-4	0.004
18	60223428	A	G	18	62556195	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.75026615824582E-4	0.0
18	60223428	A	T	18	62556195	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.32494711540332E-4	0.0
18	60223429	T	A	18	62556196	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998821536515277	0.946
18	60223429	T	C	18	62556196	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.28207228628421E-4	0.014
18	60223429	T	G	18	62556196	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999303181874451	0.95
18	60223430	G	A	18	62556197	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.32450555614001E-4	0.014
18	60223430	G	C	18	62556197	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.36557321214243E-6	0.0
18	60223430	G	T	18	62556197	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.86251695892983E-6	0.0
18	60223431	T	A	18	62556198	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.990897312114034	0.724
18	60223431	T	C	18	62556198	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.68096861735359E-5	0.006
18	60223431	T	G	18	62556198	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.621531608860356	0.434
18	60223432	G	A	18	62556199	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.55783166935551E-5	0.0
18	60223432	G	C	18	62556199	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.17907705227064E-5	0.0
18	60223432	G	T	18	62556199	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.88793248734942E-5	0.0
18	60223433	C	A	18	62556200	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999836578778641	0.828
18	60223433	C	G	18	62556200	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999893374630736	0.922
18	60223433	C	T	18	62556200	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.338007276142096	0.186
18	60223434	A	C	18	62556201	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1314-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1314-2A>C;ENST00000585873:exon6:c.1072-2A>C;ENST00000586834:exon5:c.351-2A>C)	.	.	0.999988247793601	0.93
18	60223434	A	G	18	62556201	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1314-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1314-2A>G;ENST00000585873:exon6:c.1072-2A>G;ENST00000586834:exon5:c.351-2A>G)	.	.	0.999988247793601	0.93
18	60223434	A	T	18	62556201	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1314-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1314-2A>T;ENST00000585873:exon6:c.1072-2A>T;ENST00000586834:exon5:c.351-2A>T)	.	.	0.999988247793601	0.93
18	60223435	G	A	18	62556202	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1314-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1314-1G>A;ENST00000585873:exon6:c.1072-1G>A;ENST00000586834:exon5:c.351-1G>A)	.	.	0.999993148181228	0.93
18	60223435	G	C	18	62556202	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1314-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1314-1G>C;ENST00000585873:exon6:c.1072-1G>C;ENST00000586834:exon5:c.351-1G>C)	.	.	0.999993148181228	0.93
18	60223435	G	T	18	62556202	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1314-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1314-1G>T;ENST00000585873:exon6:c.1072-1G>T;ENST00000586834:exon5:c.351-1G>T)	.	.	0.999993148181228	0.93
18	60223436	G	A	18	62556203	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon6:c.G1314A:p.R438R;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.G351A:p.R117R;ENSG00000141664:ENST00000269499:exon6:c.G1314A:p.R438R;	0.99380592345365	0.75
18	60223436	G	C	18	62556203	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.G1314C:p.R438S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.G351C:p.R117S;ENSG00000141664:ENST00000269499:exon6:c.G1314C:p.R438S;	0.999717430466325	0.968
18	60223436	G	T	18	62556203	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.G1314T:p.R438S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.G351T:p.R117S;ENSG00000141664:ENST00000269499:exon6:c.G1314T:p.R438S;	0.999550386197222	0.988
18	60223437	C	A	18	62556204	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.C1315A:p.Q439K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.C352A:p.Q118K;ENSG00000141664:ENST00000269499:exon6:c.C1315A:p.Q439K;	0.984219789192942	0.842
18	60223437	C	G	18	62556204	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.C1315G:p.Q439E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.C352G:p.Q118E;ENSG00000141664:ENST00000269499:exon6:c.C1315G:p.Q439E;	0.0263936455153592	0.202
18	60223437	C	T	18	62556204	y	y	exonic	ZCCHC2	stopgain SNV	ZCCHC2:NM_017742:exon6:c.C1315T:p.Q439X;	exonic	ENSG00000141664	stopgain SNV	ENSG00000141664:ENST00000586834:exon5:c.C352T:p.Q118X;ENSG00000141664:ENST00000269499:exon6:c.C1315T:p.Q439X;	0.983780949364485	0.902
18	60223528	T	A	18	62556295	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.T1406A:p.I469N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.T443A:p.I148N;ENSG00000141664:ENST00000269499:exon6:c.T1406A:p.I469N;	4.77373652884831E-4	0.018
18	60223528	T	C	18	62556295	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.T1406C:p.I469T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.T443C:p.I148T;ENSG00000141664:ENST00000269499:exon6:c.T1406C:p.I469T;	2.98648739366123E-4	0.02
18	60223528	T	G	18	62556295	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.T1406G:p.I469S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.T443G:p.I148S;ENSG00000141664:ENST00000269499:exon6:c.T1406G:p.I469S;	0.00106487693948998	0.05
18	60223529	C	A	18	62556296	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon6:c.C1407A:p.I469I;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.C444A:p.I148I;ENSG00000141664:ENST00000269499:exon6:c.C1407A:p.I469I;	8.91639271555339E-4	0.18
18	60223529	C	G	18	62556296	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.C1407G:p.I469M;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.C444G:p.I148M;ENSG00000141664:ENST00000269499:exon6:c.C1407G:p.I469M;	6.67047286367636E-4	0.102
18	60223529	C	T	18	62556296	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon6:c.C1407T:p.I469I;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.C444T:p.I148I;ENSG00000141664:ENST00000269499:exon6:c.C1407T:p.I469I;	0.0222840102001797	0.166
18	60223530	A	C	18	62556297	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.A1408C:p.N470H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.A445C:p.N149H;ENSG00000141664:ENST00000269499:exon6:c.A1408C:p.N470H;	0.0135631252990774	0.192
18	60223530	A	G	18	62556297	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.A1408G:p.N470D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.A445G:p.N149D;ENSG00000141664:ENST00000269499:exon6:c.A1408G:p.N470D;	7.34342533162461E-4	0.048
18	60223530	A	T	18	62556297	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon6:c.A1408T:p.N470Y;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon5:c.A445T:p.N149Y;ENSG00000141664:ENST00000269499:exon6:c.A1408T:p.N470Y;	0.0382473567965718	0.28
18	60223531	G	A	18	62556298	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1408+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1408+1G>A;ENST00000585873:exon6:c.1166+1G>A;ENST00000586834:exon5:c.445+1G>A)	.	.	0.999986675681007	0.95
18	60223531	G	C	18	62556298	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1408+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1408+1G>C;ENST00000585873:exon6:c.1166+1G>C;ENST00000586834:exon5:c.445+1G>C)	.	.	0.999986675681007	0.95
18	60223531	G	T	18	62556298	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1408+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1408+1G>T;ENST00000585873:exon6:c.1166+1G>T;ENST00000586834:exon5:c.445+1G>T)	.	.	0.999986675681007	0.95
18	60223532	T	A	18	62556299	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1408+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1408+2T>A;ENST00000585873:exon6:c.1166+2T>A;ENST00000586834:exon5:c.445+2T>A)	.	.	0.999988247793601	0.944
18	60223532	T	C	18	62556299	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1408+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1408+2T>C;ENST00000585873:exon6:c.1166+2T>C;ENST00000586834:exon5:c.445+2T>C)	.	.	0.999925271020399	0.878
18	60223532	T	G	18	62556299	y	y	splicing	ZCCHC2(NM_017742:exon6:c.1408+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon6:c.1408+2T>G;ENST00000585873:exon6:c.1166+2T>G;ENST00000586834:exon5:c.445+2T>G)	.	.	0.999988247793601	0.944
18	60223533	A	C	18	62556300	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999890488909953	0.95
18	60223533	A	G	18	62556300	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.794754074418924	0.53
18	60223533	A	T	18	62556300	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999890488909953	0.946
18	60223534	A	C	18	62556301	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99962635123399	0.932
18	60223534	A	G	18	62556301	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999844005060017	0.974
18	60223534	A	T	18	62556301	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99982946160261	0.94
18	60223535	G	A	18	62556302	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999986690534261	0.998
18	60223535	G	C	18	62556302	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999986378159436	0.994
18	60223535	G	T	18	62556302	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999986378159436	0.996
18	60223536	C	A	18	62556303	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.92210651737895E-4	0.092
18	60223536	C	G	18	62556303	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.17737941361157E-4	0.078
18	60223536	C	T	18	62556303	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.09694345294457E-4	0.018
18	60223537	A	C	18	62556304	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.09793686747663E-5	0.004
18	60223537	A	G	18	62556304	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.32468193273669E-4	0.006
18	60223537	A	T	18	62556304	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.78481295546612E-4	0.044
18	60223538	T	A	18	62556305	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.27790823993385E-4	0.084
18	60223538	T	C	18	62556305	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.59520173469488E-4	0.044
18	60223538	T	G	18	62556305	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.72180030588189E-4	0.04
18	60225908	T	A	18	62558675	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999946043555623	0.984
18	60225908	T	C	18	62558675	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00713793376260796	0.122
18	60225908	T	G	18	62558675	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999907787033503	0.982
18	60225909	G	A	18	62558676	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.18929103584857E-4	0.042
18	60225909	G	C	18	62558676	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.1172864533286E-4	0.008
18	60225909	G	T	18	62558676	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.16344538715985E-4	0.008
18	60225910	C	A	18	62558677	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.9255563605662E-4	0.07
18	60225910	C	G	18	62558677	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00394232159503774	0.06
18	60225910	C	T	18	62558677	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.79019598722167E-4	0.03
18	60225911	T	A	18	62558678	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.215197931506091	0.538
18	60225911	T	C	18	62558678	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00153640802351762	0.054
18	60225911	T	G	18	62558678	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0533904721802868	0.472
18	60225912	T	A	18	62558679	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.15272027727792	0.478
18	60225912	T	C	18	62558679	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00122678397965172	0.036
18	60225912	T	G	18	62558679	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0219034377425369	0.436
18	60225913	C	A	18	62558680	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00568819481179521	0.174
18	60225913	C	G	18	62558680	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00874761532461033	0.19
18	60225913	C	T	18	62558680	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.61201872915932E-4	0.008
18	60225914	C	A	18	62558681	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0103170819274547	0.234
18	60225914	C	G	18	62558681	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0140193223529558	0.274
18	60225914	C	T	18	62558681	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.27132677370108E-5	0.0
18	60225915	T	A	18	62558682	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999751377862554	0.944
18	60225915	T	C	18	62558682	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.75217635170786E-4	0.118
18	60225915	T	G	18	62558682	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.29585409972374	0.43
18	60225916	G	A	18	62558683	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.14120771575564E-5	0.002
18	60225916	G	C	18	62558683	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.31326575146411E-5	0.002
18	60225916	G	T	18	62558683	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.32080712417122E-5	0.0
18	60225917	C	A	18	62558684	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.983888389615451	0.89
18	60225917	C	G	18	62558684	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99662997018882	0.718
18	60225917	C	T	18	62558684	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0201128176321336	0.252
18	60225918	A	C	18	62558685	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1409-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1409-2A>C;ENST00000585873:exon7:c.1167-2A>C;ENST00000586834:exon6:c.446-2A>C)	.	.	0.999986741007567	0.942
18	60225918	A	G	18	62558685	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1409-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1409-2A>G;ENST00000585873:exon7:c.1167-2A>G;ENST00000586834:exon6:c.446-2A>G)	.	.	0.999986741007567	0.942
18	60225918	A	T	18	62558685	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1409-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1409-2A>T;ENST00000585873:exon7:c.1167-2A>T;ENST00000586834:exon6:c.446-2A>T)	.	.	0.999986741007567	0.942
18	60225919	G	A	18	62558686	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1409-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1409-1G>A;ENST00000585873:exon7:c.1167-1G>A;ENST00000586834:exon6:c.446-1G>A)	.	.	0.999986254256132	0.944
18	60225919	G	C	18	62558686	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1409-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1409-1G>C;ENST00000585873:exon7:c.1167-1G>C;ENST00000586834:exon6:c.446-1G>C)	.	.	0.999964529194807	0.936
18	60225919	G	T	18	62558686	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1409-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1409-1G>T;ENST00000585873:exon7:c.1167-1G>T;ENST00000586834:exon6:c.446-1G>T)	.	.	0.999964529194807	0.942
18	60225920	A	C	18	62558687	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.A1409C:p.N470T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A446C:p.N149T;ENSG00000141664:ENST00000269499:exon7:c.A1409C:p.N470T;	3.63039167533304E-4	0.12
18	60225920	A	G	18	62558687	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.A1409G:p.N470S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A446G:p.N149S;ENSG00000141664:ENST00000269499:exon7:c.A1409G:p.N470S;	1.16274336643086E-5	0.0
18	60225920	A	T	18	62558687	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.A1409T:p.N470I;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A446T:p.N149I;ENSG00000141664:ENST00000269499:exon7:c.A1409T:p.N470I;	8.44272698605581E-4	0.234
18	60225921	T	A	18	62558688	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.T1410A:p.N470K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.T447A:p.N149K;ENSG00000141664:ENST00000269499:exon7:c.T1410A:p.N470K;	0.628517563647569	0.416
18	60225921	T	C	18	62558688	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon7:c.T1410C:p.N470N;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.T447C:p.N149N;ENSG00000141664:ENST00000269499:exon7:c.T1410C:p.N470N;	0.0307759028236487	0.2
18	60225921	T	G	18	62558688	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.T1410G:p.N470K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.T447G:p.N149K;ENSG00000141664:ENST00000269499:exon7:c.T1410G:p.N470K;	0.626587907321068	0.356
18	60226001	A	C	18	62558768	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.A1490C:p.E497A;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A527C:p.E176A;ENSG00000141664:ENST00000269499:exon7:c.A1490C:p.E497A;	0.889543166613229	0.796
18	60226001	A	G	18	62558768	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.A1490G:p.E497G;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A527G:p.E176G;ENSG00000141664:ENST00000269499:exon7:c.A1490G:p.E497G;	0.918919682863375	0.474
18	60226001	A	T	18	62558768	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.A1490T:p.E497V;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A527T:p.E176V;ENSG00000141664:ENST00000269499:exon7:c.A1490T:p.E497V;	0.998158990444546	0.81
18	60226002	A	C	18	62558769	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.A1491C:p.E497D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A528C:p.E176D;ENSG00000141664:ENST00000269499:exon7:c.A1491C:p.E497D;	0.999806604476133	0.994
18	60226002	A	G	18	62558769	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon7:c.A1491G:p.E497E;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A528G:p.E176E;ENSG00000141664:ENST00000269499:exon7:c.A1491G:p.E497E;	0.999688771447486	0.992
18	60226002	A	T	18	62558769	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.A1491T:p.E497D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.A528T:p.E176D;ENSG00000141664:ENST00000269499:exon7:c.A1491T:p.E497D;	0.999938151101861	1.0
18	60226003	G	A	18	62558770	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.G1492A:p.D498N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.G529A:p.D177N;ENSG00000141664:ENST00000269499:exon7:c.G1492A:p.D498N;	0.99999227836526	1.0
18	60226003	G	C	18	62558770	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.G1492C:p.D498H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.G529C:p.D177H;ENSG00000141664:ENST00000269499:exon7:c.G1492C:p.D498H;	0.999998269697804	1.0
18	60226003	G	T	18	62558770	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon7:c.G1492T:p.D498Y;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon6:c.G529T:p.D177Y;ENSG00000141664:ENST00000269499:exon7:c.G1492T:p.D498Y;	0.999989506820609	0.984
18	60226004	G	A	18	62558771	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1492+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1492+1G>A;ENST00000585873:exon7:c.1250+1G>A;ENST00000586834:exon6:c.529+1G>A)	.	.	0.999990361384395	0.938
18	60226004	G	C	18	62558771	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1492+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1492+1G>C;ENST00000585873:exon7:c.1250+1G>C;ENST00000586834:exon6:c.529+1G>C)	.	.	0.999990361384395	0.938
18	60226004	G	T	18	62558771	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1492+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1492+1G>T;ENST00000585873:exon7:c.1250+1G>T;ENST00000586834:exon6:c.529+1G>T)	.	.	0.999990361384395	0.938
18	60226005	T	A	18	62558772	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1492+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1492+2T>A;ENST00000585873:exon7:c.1250+2T>A;ENST00000586834:exon6:c.529+2T>A)	.	.	0.999988247793601	0.932
18	60226005	T	C	18	62558772	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1492+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1492+2T>C;ENST00000585873:exon7:c.1250+2T>C;ENST00000586834:exon6:c.529+2T>C)	.	.	0.99340600729494	0.682
18	60226005	T	G	18	62558772	y	y	splicing	ZCCHC2(NM_017742:exon7:c.1492+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon7:c.1492+2T>G;ENST00000585873:exon7:c.1250+2T>G;ENST00000586834:exon6:c.529+2T>G)	.	.	0.999988247793601	0.932
18	60226006	A	C	18	62558773	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999547608935228	0.948
18	60226006	A	G	18	62558773	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.976711539095351	0.678
18	60226006	A	T	18	62558773	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998303098327738	0.92
18	60226007	A	C	18	62558774	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.340671637622301	0.384
18	60226007	A	G	18	62558774	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.531067153564053	0.548
18	60226007	A	T	18	62558774	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0976363578022872	0.332
18	60226008	A	C	18	62558775	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.29248679612386E-5	0.052
18	60226008	A	G	18	62558775	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.38410639632455E-5	0.004
18	60226008	A	T	18	62558775	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.72087260299569E-4	0.006
18	60226009	G	A	18	62558776	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.69732353651869E-5	0.036
18	60226009	G	C	18	62558776	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.7969207568369E-5	0.048
18	60226009	G	T	18	62558776	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.01581799087506E-5	0.032
18	60226010	G	A	18	62558777	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.69472462972064E-4	0.008
18	60226010	G	C	18	62558777	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.55175745054535E-5	0.0
18	60226010	G	T	18	62558777	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.84323652167131E-4	0.118
18	60226011	T	A	18	62558778	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.658318015934E-5	0.0
18	60226011	T	C	18	62558778	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.00803799045111E-4	0.004
18	60226011	T	G	18	62558778	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.658318015934E-5	0.004
18	60227808	C	A	18	62560575	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.46796837237749E-5	0.016
18	60227808	C	G	18	62560575	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.19797729686031E-5	0.018
18	60227808	C	T	18	62560575	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.13039166019273E-6	0.002
18	60227809	C	A	18	62560576	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.89582234754479E-4	0.022
18	60227809	C	G	18	62560576	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.76028897240734E-4	0.012
18	60227809	C	T	18	62560576	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.64722640380665E-5	0.008
18	60227810	T	A	18	62560577	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.12881680994971E-4	0.138
18	60227810	T	C	18	62560577	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.62321749836579E-5	0.006
18	60227810	T	G	18	62560577	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.20491687471753E-4	0.14
18	60227811	C	A	18	62560578	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.17200703325251E-4	0.008
18	60227811	C	G	18	62560578	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.10787266735776E-4	0.022
18	60227811	C	T	18	62560578	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.29448637569301E-5	0.004
18	60227812	T	A	18	62560579	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.57499380581329E-4	0.036
18	60227812	T	C	18	62560579	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.96765959953586E-5	0.0
18	60227812	T	G	18	62560579	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.52027525416464E-4	0.05
18	60227813	C	A	18	62560580	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.93428408959329E-5	0.022
18	60227813	C	G	18	62560580	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.09359532989458E-5	0.016
18	60227813	C	T	18	62560580	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.55794180676618E-5	0.0
18	60227814	T	A	18	62560581	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.1401077062281E-4	0.18
18	60227814	T	C	18	62560581	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.01464667894079E-4	0.066
18	60227814	T	G	18	62560581	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.74399386087586E-4	0.182
18	60227815	T	A	18	62560582	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.60859035529967E-4	0.114
18	60227815	T	C	18	62560582	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.78779293937944E-5	0.008
18	60227815	T	G	18	62560582	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.30537210676188E-4	0.118
18	60227816	C	A	18	62560583	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.54836613290582E-5	0.03
18	60227816	C	G	18	62560583	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.7500403827314E-5	0.034
18	60227816	C	T	18	62560583	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.50732002986892E-5	0.028
18	60227817	T	A	18	62560584	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00303223104225867	0.208
18	60227817	T	C	18	62560584	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.31486302586104E-5	0.016
18	60227817	T	G	18	62560584	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.599463312120402	0.562
18	60227818	A	C	18	62560585	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1493-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1493-2A>C;ENST00000585873:exon8:c.1251-2A>C;ENST00000586834:exon7:c.530-2A>C)	.	.	0.999972155025474	0.864
18	60227818	A	G	18	62560585	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1493-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1493-2A>G;ENST00000585873:exon8:c.1251-2A>G;ENST00000586834:exon7:c.530-2A>G)	.	.	0.999972155025474	0.868
18	60227818	A	T	18	62560585	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1493-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1493-2A>T;ENST00000585873:exon8:c.1251-2A>T;ENST00000586834:exon7:c.530-2A>T)	.	.	0.999971317418422	0.894
18	60227819	G	A	18	62560586	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1493-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1493-1G>A;ENST00000585873:exon8:c.1251-1G>A;ENST00000586834:exon7:c.530-1G>A)	.	.	0.999976475802857	0.91
18	60227819	G	C	18	62560586	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1493-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1493-1G>C;ENST00000585873:exon8:c.1251-1G>C;ENST00000586834:exon7:c.530-1G>C)	.	.	0.99997775019564	0.896
18	60227819	G	T	18	62560586	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1493-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1493-1G>T;ENST00000585873:exon8:c.1251-1G>T;ENST00000586834:exon7:c.530-1G>T)	.	.	0.999976475802857	0.908
18	60227820	A	C	18	62560587	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1493C:p.D498A;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A530C:p.D177A;ENSG00000141664:ENST00000269499:exon8:c.A1493C:p.D498A;	0.0170034687955345	0.144
18	60227820	A	G	18	62560587	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1493G:p.D498G;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A530G:p.D177G;ENSG00000141664:ENST00000269499:exon8:c.A1493G:p.D498G;	0.00133950129093498	0.01
18	60227820	A	T	18	62560587	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1493T:p.D498V;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A530T:p.D177V;ENSG00000141664:ENST00000269499:exon8:c.A1493T:p.D498V;	0.519056477288646	0.526
18	60227821	T	A	18	62560588	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.T1494A:p.D498E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.T531A:p.D177E;ENSG00000141664:ENST00000269499:exon8:c.T1494A:p.D498E;	6.37178083779389E-5	0.014
18	60227821	T	C	18	62560588	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon8:c.T1494C:p.D498D;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.T531C:p.D177D;ENSG00000141664:ENST00000269499:exon8:c.T1494C:p.D498D;	9.39592682045522E-5	0.108
18	60227821	T	G	18	62560588	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.T1494G:p.D498E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.T531G:p.D177E;ENSG00000141664:ENST00000269499:exon8:c.T1494G:p.D498E;	6.37178083779389E-5	0.018
18	60227875	G	A	18	62560642	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon8:c.G1548A:p.V516V;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.G585A:p.V195V;ENSG00000141664:ENST00000269499:exon8:c.G1548A:p.V516V;	1.28934968196464E-5	0.0
18	60227875	G	C	18	62560642	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon8:c.G1548C:p.V516V;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.G585C:p.V195V;ENSG00000141664:ENST00000269499:exon8:c.G1548C:p.V516V;	1.26848964498332E-5	0.002
18	60227875	G	T	18	62560642	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon8:c.G1548T:p.V516V;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.G585T:p.V195V;ENSG00000141664:ENST00000269499:exon8:c.G1548T:p.V516V;	1.75850109973616E-4	0.072
18	60227876	A	C	18	62560643	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1549C:p.N517H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A586C:p.N196H;ENSG00000141664:ENST00000269499:exon8:c.A1549C:p.N517H;	0.168855577430978	0.51
18	60227876	A	G	18	62560643	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1549G:p.N517D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A586G:p.N196D;ENSG00000141664:ENST00000269499:exon8:c.A1549G:p.N517D;	0.241909891114663	0.412
18	60227876	A	T	18	62560643	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1549T:p.N517Y;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A586T:p.N196Y;ENSG00000141664:ENST00000269499:exon8:c.A1549T:p.N517Y;	0.763101792408864	0.676
18	60227877	A	C	18	62560644	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1550C:p.N517T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A587C:p.N196T;ENSG00000141664:ENST00000269499:exon8:c.A1550C:p.N517T;	0.463507238416281	0.598
18	60227877	A	G	18	62560644	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1550G:p.N517S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A587G:p.N196S;ENSG00000141664:ENST00000269499:exon8:c.A1550G:p.N517S;	5.50611168539278E-4	0.038
18	60227877	A	T	18	62560644	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon8:c.A1550T:p.N517I;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon7:c.A587T:p.N196I;ENSG00000141664:ENST00000269499:exon8:c.A1550T:p.N517I;	0.746081371209127	0.642
18	60227878	G	A	18	62560645	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1550+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1550+1G>A;ENST00000585873:exon8:c.1308+1G>A;ENST00000586834:exon7:c.587+1G>A)	.	.	0.999971209564868	0.938
18	60227878	G	C	18	62560645	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1550+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1550+1G>C;ENST00000585873:exon8:c.1308+1G>C;ENST00000586834:exon7:c.587+1G>C)	.	.	0.999970205305079	0.934
18	60227878	G	T	18	62560645	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1550+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1550+1G>T;ENST00000585873:exon8:c.1308+1G>T;ENST00000586834:exon7:c.587+1G>T)	.	.	0.999971209564868	0.938
18	60227879	T	A	18	62560646	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1550+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1550+2T>A;ENST00000585873:exon8:c.1308+2T>A;ENST00000586834:exon7:c.587+2T>A)	.	.	0.999964896440643	0.934
18	60227879	T	C	18	62560646	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1550+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1550+2T>C;ENST00000585873:exon8:c.1308+2T>C;ENST00000586834:exon7:c.587+2T>C)	.	.	0.978913821009631	0.634
18	60227879	T	G	18	62560646	y	y	splicing	ZCCHC2(NM_017742:exon8:c.1550+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon8:c.1550+2T>G;ENST00000585873:exon8:c.1308+2T>G;ENST00000586834:exon7:c.587+2T>G)	.	.	0.999963671976247	0.918
18	60227880	A	C	18	62560647	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999824267217327	0.888
18	60227880	A	G	18	62560647	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.017596540520959	0.268
18	60227880	A	T	18	62560647	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.996259332653856	0.834
18	60227881	A	C	18	62560648	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.728072403456732	0.508
18	60227881	A	G	18	62560648	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.883739623941602	0.644
18	60227881	A	T	18	62560648	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.760080010826568	0.534
18	60227882	G	A	18	62560649	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999638876544733	0.886
18	60227882	G	C	18	62560649	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999823971260643	0.888
18	60227882	G	T	18	62560649	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999976603087554	0.91
18	60227883	T	A	18	62560650	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.846764394094309	0.594
18	60227883	T	C	18	62560650	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.793988061457543	0.578
18	60227883	T	G	18	62560650	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.720373794874889	0.568
18	60227884	A	C	18	62560651	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.00269330503658E-5	0.014
18	60227884	A	G	18	62560651	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.02167058829251E-5	0.014
18	60227884	A	T	18	62560651	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.10360521084268E-5	0.0
18	60227885	T	A	18	62560652	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.01233061565404E-4	0.0
18	60227885	T	C	18	62560652	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.01233061565404E-4	0.006
18	60227885	T	G	18	62560652	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.01233061565404E-4	0.002
18	60230230	T	A	18	62562997	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.144941190956384	0.308
18	60230230	T	C	18	62562997	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0198670661066129	0.166
18	60230230	T	G	18	62562997	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00414358611278872	0.196
18	60230231	T	A	18	62562998	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.427783516413922	0.45
18	60230231	T	C	18	62562998	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0144542197343133	0.228
18	60230231	T	G	18	62562998	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0046756954092813	0.282
18	60230232	T	A	18	62562999	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.49171070230778	0.4
18	60230232	T	C	18	62562999	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.10224369089341E-4	0.06
18	60230232	T	G	18	62562999	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0605769665342546	0.268
18	60230233	C	A	18	62563000	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.059631442720587	0.16
18	60230233	C	G	18	62563000	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00133499279281376	0.162
18	60230233	C	T	18	62563000	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.21734837507074E-4	0.062
18	60230234	T	A	18	62563001	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.87589838515053E-4	0.104
18	60230234	T	C	18	62563001	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.99806239422994E-5	0.008
18	60230234	T	G	18	62563001	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.53421026041115E-4	0.136
18	60230235	T	A	18	62563002	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0021047027177562	0.108
18	60230235	T	C	18	62563002	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.75059312335208E-5	0.026
18	60230235	T	G	18	62563002	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00101261475127553	0.136
18	60230236	T	A	18	62563003	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999937623832484	0.98
18	60230236	T	C	18	62563003	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.45707475468081E-4	0.008
18	60230236	T	G	18	62563003	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00141767901216378	0.148
18	60230237	G	A	18	62563004	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.958613925931484	0.772
18	60230237	G	C	18	62563004	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.85515145360271E-5	0.006
18	60230237	G	T	18	62563004	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.45551543741291E-5	0.048
18	60230238	G	A	18	62563005	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.6022752247931E-5	0.0
18	60230238	G	C	18	62563005	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.95684834572656E-5	0.0
18	60230238	G	T	18	62563005	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.18400529717845E-5	0.006
18	60230239	T	A	18	62563006	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00452692574583257	0.216
18	60230239	T	C	18	62563006	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.25890548851313E-4	0.018
18	60230239	T	G	18	62563006	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.698040071060179	0.568
18	60230240	A	C	18	62563007	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1551-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1551-2A>C;ENST00000585873:exon9:c.1309-2A>C;ENST00000586834:exon8:c.588-2A>C)	.	.	0.999965314197099	0.874
18	60230240	A	G	18	62563007	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1551-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1551-2A>G;ENST00000585873:exon9:c.1309-2A>G;ENST00000586834:exon8:c.588-2A>G)	.	.	0.999965314197099	0.882
18	60230240	A	T	18	62563007	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1551-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1551-2A>T;ENST00000585873:exon9:c.1309-2A>T;ENST00000586834:exon8:c.588-2A>T)	.	.	0.999968585001639	0.858
18	60230241	G	A	18	62563008	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1551-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1551-1G>A;ENST00000585873:exon9:c.1309-1G>A;ENST00000586834:exon8:c.588-1G>A)	.	.	0.99996572522043	0.832
18	60230241	G	C	18	62563008	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1551-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1551-1G>C;ENST00000585873:exon9:c.1309-1G>C;ENST00000586834:exon8:c.588-1G>C)	.	.	0.99996572522043	0.83
18	60230241	G	T	18	62563008	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1551-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1551-1G>T;ENST00000585873:exon9:c.1309-1G>T;ENST00000586834:exon8:c.588-1G>T)	.	.	0.99996572522043	0.836
18	60230242	C	A	18	62563009	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.C1551A:p.N517K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.C588A:p.N196K;ENSG00000141664:ENST00000269499:exon9:c.C1551A:p.N517K;	0.00272832336517815	0.068
18	60230242	C	G	18	62563009	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.C1551G:p.N517K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.C588G:p.N196K;ENSG00000141664:ENST00000269499:exon9:c.C1551G:p.N517K;	0.00349943958645291	0.11
18	60230242	C	T	18	62563009	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon9:c.C1551T:p.N517N;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.C588T:p.N196N;ENSG00000141664:ENST00000269499:exon9:c.C1551T:p.N517N;	0.00900341703164262	0.262
18	60230243	A	C	18	62563010	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.A1552C:p.N518H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.A589C:p.N197H;ENSG00000141664:ENST00000269499:exon9:c.A1552C:p.N518H;	8.04860607029135E-4	0.014
18	60230243	A	G	18	62563010	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.A1552G:p.N518D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.A589G:p.N197D;ENSG00000141664:ENST00000269499:exon9:c.A1552G:p.N518D;	3.40495897205213E-4	0.01
18	60230243	A	T	18	62563010	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.A1552T:p.N518Y;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.A589T:p.N197Y;ENSG00000141664:ENST00000269499:exon9:c.A1552T:p.N518Y;	1.36265882132887E-4	0.006
18	60230375	C	A	18	62563142	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.C1684A:p.Q562K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.C721A:p.Q241K;ENSG00000141664:ENST00000269499:exon9:c.C1684A:p.Q562K;	0.896640758696805	0.76
18	60230375	C	G	18	62563142	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.C1684G:p.Q562E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.C721G:p.Q241E;ENSG00000141664:ENST00000269499:exon9:c.C1684G:p.Q562E;	0.950422152270042	0.626
18	60230375	C	T	18	62563142	y	y	exonic	ZCCHC2	stopgain SNV	ZCCHC2:NM_017742:exon9:c.C1684T:p.Q562X;	exonic	ENSG00000141664	stopgain SNV	ENSG00000141664:ENST00000586834:exon8:c.C721T:p.Q241X;ENSG00000141664:ENST00000269499:exon9:c.C1684T:p.Q562X;	0.99763811464973	0.824
18	60230376	A	C	18	62563143	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.A1685C:p.Q562P;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.A722C:p.Q241P;ENSG00000141664:ENST00000269499:exon9:c.A1685C:p.Q562P;	0.999473932303723	0.984
18	60230376	A	G	18	62563143	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.A1685G:p.Q562R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.A722G:p.Q241R;ENSG00000141664:ENST00000269499:exon9:c.A1685G:p.Q562R;	0.999780987891164	1.0
18	60230376	A	T	18	62563143	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.A1685T:p.Q562L;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.A722T:p.Q241L;ENSG00000141664:ENST00000269499:exon9:c.A1685T:p.Q562L;	0.999834034881309	1.0
18	60230377	G	A	18	62563144	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon9:c.G1686A:p.Q562Q;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.G723A:p.Q241Q;ENSG00000141664:ENST00000269499:exon9:c.G1686A:p.Q562Q;	0.998421225228931	0.838
18	60230377	G	C	18	62563144	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.G1686C:p.Q562H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.G723C:p.Q241H;ENSG00000141664:ENST00000269499:exon9:c.G1686C:p.Q562H;	0.999974570240565	0.916
18	60230377	G	T	18	62563144	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon9:c.G1686T:p.Q562H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon8:c.G723T:p.Q241H;ENSG00000141664:ENST00000269499:exon9:c.G1686T:p.Q562H;	0.999912201192478	0.922
18	60230378	G	A	18	62563145	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1686+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1686+1G>A;ENST00000585873:exon9:c.1444+1G>A;ENST00000586834:exon8:c.723+1G>A)	.	.	0.999990361384395	0.938
18	60230378	G	C	18	62563145	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1686+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1686+1G>C;ENST00000585873:exon9:c.1444+1G>C;ENST00000586834:exon8:c.723+1G>C)	.	.	0.999990361384395	0.938
18	60230378	G	T	18	62563145	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1686+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1686+1G>T;ENST00000585873:exon9:c.1444+1G>T;ENST00000586834:exon8:c.723+1G>T)	.	.	0.999990361384395	0.938
18	60230379	T	A	18	62563146	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1686+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1686+2T>A;ENST00000585873:exon9:c.1444+2T>A;ENST00000586834:exon8:c.723+2T>A)	.	.	0.999988247793601	0.93
18	60230379	T	C	18	62563146	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1686+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1686+2T>C;ENST00000585873:exon9:c.1444+2T>C;ENST00000586834:exon8:c.723+2T>C)	.	.	0.999929727175276	0.868
18	60230379	T	G	18	62563146	y	y	splicing	ZCCHC2(NM_017742:exon9:c.1686+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon9:c.1686+2T>G;ENST00000585873:exon9:c.1444+2T>G;ENST00000586834:exon8:c.723+2T>G)	.	.	0.999988247793601	0.93
18	60230380	G	A	18	62563147	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.68124131097452E-5	0.042
18	60230380	G	C	18	62563147	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00966159851347052	0.21
18	60230380	G	T	18	62563147	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.86978090757766E-4	0.198
18	60230381	T	A	18	62563148	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.60062760974308E-4	0.046
18	60230381	T	C	18	62563148	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00170473096460361	0.136
18	60230381	T	G	18	62563148	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.07289029361903E-5	0.13
18	60230382	G	A	18	62563149	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.892278440745674	0.698
18	60230382	G	C	18	62563149	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.908432103115845	0.752
18	60230382	G	T	18	62563149	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.981507407117421	0.738
18	60230383	T	A	18	62563150	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0299086190850049	0.2
18	60230383	T	C	18	62563150	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00905043123032377	0.14
18	60230383	T	G	18	62563150	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00178174635061302	0.122
18	60230384	G	A	18	62563151	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00338176525531937	0.006
18	60230384	G	C	18	62563151	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00338176525531937	0.004
18	60230384	G	T	18	62563151	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.85225212009199E-4	0.032
18	60230385	G	A	18	62563152	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.2798817520545E-4	0.004
18	60230385	G	C	18	62563152	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.08097534242834E-4	0.006
18	60230385	G	T	18	62563152	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.2798817520545E-4	0.006
18	60231792	T	A	18	62564559	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.993921712219394	0.844
18	60231792	T	C	18	62564559	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.107740973910692	0.3
18	60231792	T	G	18	62564559	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.985550899050334	0.7
18	60231793	C	A	18	62564560	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0116788221458924	0.132
18	60231793	C	G	18	62564560	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00227860402024275	0.032
18	60231793	C	T	18	62564560	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.44600414705159E-5	0.0
18	60231794	T	A	18	62564561	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998301296357035	0.87
18	60231794	T	C	18	62564561	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.519560685893188	0.41
18	60231794	T	G	18	62564561	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.993844475966196	0.686
18	60231795	T	A	18	62564562	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.639103193736993	0.53
18	60231795	T	C	18	62564562	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.4443348806624E-4	0.026
18	60231795	T	G	18	62564562	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.33377065545059	0.406
18	60231796	T	A	18	62564563	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.992175841314771	0.77
18	60231796	T	C	18	62564563	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0357035682479717	0.384
18	60231796	T	G	18	62564563	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99059998331699	0.84
18	60231797	C	A	18	62564564	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00114871098560912	0.114
18	60231797	C	G	18	62564564	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.1694900840404E-4	0.112
18	60231797	C	T	18	62564564	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.50751507120753E-4	0.018
18	60231798	T	A	18	62564565	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00475460635738177	0.142
18	60231798	T	C	18	62564565	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.77736321751033E-5	0.004
18	60231798	T	G	18	62564565	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.010469901279164	0.128
18	60231799	A	C	18	62564566	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.50619010087917E-5	0.004
18	60231799	A	G	18	62564566	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.92594528515314E-5	0.0
18	60231799	A	T	18	62564566	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.56814893403143E-5	0.006
18	60231800	C	A	18	62564567	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.53518970797457E-5	0.002
18	60231800	C	G	18	62564567	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.924598684707884	0.674
18	60231800	C	T	18	62564567	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.92625359561497E-4	0.002
18	60231801	T	A	18	62564568	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.90954368681607	0.394
18	60231801	T	C	18	62564568	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.35054423657178E-5	0.004
18	60231801	T	G	18	62564568	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999727099131507	0.86
18	60231802	A	C	18	62564569	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1687-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1687-2A>C;ENST00000585873:exon10:c.1445-2A>C;ENST00000586834:exon9:c.724-2A>C)	.	.	0.999988247793601	0.93
18	60231802	A	G	18	62564569	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1687-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1687-2A>G;ENST00000585873:exon10:c.1445-2A>G;ENST00000586834:exon9:c.724-2A>G)	.	.	0.999988247793601	0.93
18	60231802	A	T	18	62564569	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1687-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1687-2A>T;ENST00000585873:exon10:c.1445-2A>T;ENST00000586834:exon9:c.724-2A>T)	.	.	0.999988247793601	0.932
18	60231803	G	A	18	62564570	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1687-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1687-1G>A;ENST00000585873:exon10:c.1445-1G>A;ENST00000586834:exon9:c.724-1G>A)	.	.	0.999990361384395	0.938
18	60231803	G	C	18	62564570	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1687-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1687-1G>C;ENST00000585873:exon10:c.1445-1G>C;ENST00000586834:exon9:c.724-1G>C)	.	.	0.999990361384395	0.938
18	60231803	G	T	18	62564570	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1687-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1687-1G>T;ENST00000585873:exon10:c.1445-1G>T;ENST00000586834:exon9:c.724-1G>T)	.	.	0.999990361384395	0.938
18	60231804	C	A	18	62564571	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.C1687A:p.H563N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.C724A:p.H242N;ENSG00000141664:ENST00000269499:exon10:c.C1687A:p.H563N;	0.577917643336336	0.516
18	60231804	C	G	18	62564571	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.C1687G:p.H563D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.C724G:p.H242D;ENSG00000141664:ENST00000269499:exon10:c.C1687G:p.H563D;	0.005860082785369	0.076
18	60231804	C	T	18	62564571	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.C1687T:p.H563Y;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.C724T:p.H242Y;ENSG00000141664:ENST00000269499:exon10:c.C1687T:p.H563Y;	0.9935504792501	0.856
18	60231805	A	C	18	62564572	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1688C:p.H563P;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A725C:p.H242P;ENSG00000141664:ENST00000269499:exon10:c.A1688C:p.H563P;	0.00563745138318986	0.054
18	60231805	A	G	18	62564572	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1688G:p.H563R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A725G:p.H242R;ENSG00000141664:ENST00000269499:exon10:c.A1688G:p.H563R;	2.68401096824196E-4	0.008
18	60231805	A	T	18	62564572	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1688T:p.H563L;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A725T:p.H242L;ENSG00000141664:ENST00000269499:exon10:c.A1688T:p.H563L;	0.00147800168715012	0.03
18	60231866	A	C	18	62564633	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1749C:p.E583D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A786C:p.E262D;ENSG00000141664:ENST00000269499:exon10:c.A1749C:p.E583D;	2.19895110101544E-4	0.014
18	60231866	A	G	18	62564633	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon10:c.A1749G:p.E583E;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A786G:p.E262E;ENSG00000141664:ENST00000269499:exon10:c.A1749G:p.E583E;	4.69248309333219E-4	0.016
18	60231866	A	T	18	62564633	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1749T:p.E583D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A786T:p.E262D;ENSG00000141664:ENST00000269499:exon10:c.A1749T:p.E583D;	0.352819285437964	0.542
18	60231867	A	C	18	62564634	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1750C:p.K584Q;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A787C:p.K263Q;ENSG00000141664:ENST00000269499:exon10:c.A1750C:p.K584Q;	0.999675040365804	0.986
18	60231867	A	G	18	62564634	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1750G:p.K584E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A787G:p.K263E;ENSG00000141664:ENST00000269499:exon10:c.A1750G:p.K584E;	0.999640082147478	0.98
18	60231867	A	T	18	62564634	y	y	exonic	ZCCHC2	stopgain SNV	ZCCHC2:NM_017742:exon10:c.A1750T:p.K584X;	exonic	ENSG00000141664	stopgain SNV	ENSG00000141664:ENST00000586834:exon9:c.A787T:p.K263X;ENSG00000141664:ENST00000269499:exon10:c.A1750T:p.K584X;	0.999898039763159	0.992
18	60231868	A	C	18	62564635	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1751C:p.K584T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A788C:p.K263T;ENSG00000141664:ENST00000269499:exon10:c.A1751C:p.K584T;	0.82051548073422	0.754
18	60231868	A	G	18	62564635	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1751G:p.K584R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A788G:p.K263R;ENSG00000141664:ENST00000269499:exon10:c.A1751G:p.K584R;	0.424566380891637	0.172
18	60231868	A	T	18	62564635	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon10:c.A1751T:p.K584M;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon9:c.A788T:p.K263M;ENSG00000141664:ENST00000269499:exon10:c.A1751T:p.K584M;	0.954215672980244	0.596
18	60231869	G	A	18	62564636	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1751+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1751+1G>A;ENST00000585873:exon10:c.1509+1G>A;ENST00000586834:exon9:c.788+1G>A)	.	.	0.999992425382947	0.94
18	60231869	G	C	18	62564636	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1751+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1751+1G>C;ENST00000585873:exon10:c.1509+1G>C;ENST00000586834:exon9:c.788+1G>C)	.	.	0.999992425382947	0.94
18	60231869	G	T	18	62564636	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1751+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1751+1G>T;ENST00000585873:exon10:c.1509+1G>T;ENST00000586834:exon9:c.788+1G>T)	.	.	0.999992425382947	0.94
18	60231870	T	A	18	62564637	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1751+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1751+2T>A;ENST00000585873:exon10:c.1509+2T>A;ENST00000586834:exon9:c.788+2T>A)	.	.	0.999990764389106	0.942
18	60231870	T	C	18	62564637	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1751+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1751+2T>C;ENST00000585873:exon10:c.1509+2T>C;ENST00000586834:exon9:c.788+2T>C)	.	.	0.996318998306784	0.714
18	60231870	T	G	18	62564637	y	y	splicing	ZCCHC2(NM_017742:exon10:c.1751+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon10:c.1751+2T>G;ENST00000585873:exon10:c.1509+2T>G;ENST00000586834:exon9:c.788+2T>G)	.	.	0.999990764389106	0.942
18	60231871	A	C	18	62564638	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999930622714401	0.978
18	60231871	A	G	18	62564638	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998525555360449	0.976
18	60231871	A	T	18	62564638	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999217293112236	0.996
18	60231872	G	A	18	62564639	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.40183360311988E-4	0.036
18	60231872	G	C	18	62564639	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.33181895390614E-4	0.184
18	60231872	G	T	18	62564639	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.77840967824286E-4	0.088
18	60231873	G	A	18	62564640	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999962270326063	1.0
18	60231873	G	C	18	62564640	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999973719030543	0.996
18	60231873	G	T	18	62564640	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999973719030543	0.976
18	60231874	T	A	18	62564641	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.996843565946035	0.782
18	60231874	T	C	18	62564641	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.994032398232558	0.922
18	60231874	T	G	18	62564641	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998664336325732	0.958
18	60231875	T	A	18	62564642	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.77214291517589E-4	0.008
18	60231875	T	C	18	62564642	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.77214291517589E-4	0.008
18	60231875	T	G	18	62564642	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.33991819423528E-4	0.006
18	60231876	C	A	18	62564643	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.94583404805652E-4	0.02
18	60231876	C	G	18	62564643	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.37410496615567E-4	0.032
18	60231876	C	T	18	62564643	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.08836257979115E-4	0.014
18	60232223	C	A	18	62564990	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.80685740692737E-4	0.022
18	60232223	C	G	18	62564990	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.78327406191756E-4	0.022
18	60232223	C	T	18	62564990	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.11747357532662E-5	0.0
18	60232224	A	C	18	62564991	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.95076949036759E-5	0.0
18	60232224	A	G	18	62564991	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.92308607451242E-5	0.0
18	60232224	A	T	18	62564991	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.59918642704535E-5	0.052
18	60232225	T	A	18	62564992	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.997626641671326	0.844
18	60232225	T	C	18	62564992	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0281630144652918	0.248
18	60232225	T	G	18	62564992	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99998518089154	0.97
18	60232226	T	A	18	62564993	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999336622380598	0.914
18	60232226	T	C	18	62564993	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.873710370974631	0.532
18	60232226	T	G	18	62564993	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999808842359134	0.956
18	60232227	T	A	18	62564994	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999925324590572	0.984
18	60232227	T	C	18	62564994	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.82540063790706E-4	0.004
18	60232227	T	G	18	62564994	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0317974073040221	0.31
18	60232228	G	A	18	62564995	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998975414167505	0.954
18	60232228	G	C	18	62564995	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.74062412694356E-4	0.008
18	60232228	G	T	18	62564995	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.28210401173562E-4	0.008
18	60232229	G	A	18	62564996	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.39110979751769E-4	0.002
18	60232229	G	C	18	62564996	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.8247790096442E-4	0.006
18	60232229	G	T	18	62564996	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.66310025668281E-4	0.012
18	60232230	T	A	18	62564997	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.830963243357751	0.566
18	60232230	T	C	18	62564997	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00752502886944638	0.206
18	60232230	T	G	18	62564997	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.982157651434769	0.53
18	60232231	T	A	18	62564998	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0345632298357007	0.158
18	60232231	T	C	18	62564998	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.80916748622422E-4	0.024
18	60232231	T	G	18	62564998	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00471329941797008	0.164
18	60232232	T	A	18	62564999	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.313575971552864	0.46
18	60232232	T	C	18	62564999	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.56610263547642E-4	0.024
18	60232232	T	G	18	62564999	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998888457373519	0.826
18	60232233	A	C	18	62565000	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1752-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1752-2A>C;ENST00000585873:exon11:c.1510-2A>C;ENST00000586834:exon10:c.789-2A>C)	.	.	0.999988247793601	0.932
18	60232233	A	G	18	62565000	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1752-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1752-2A>G;ENST00000585873:exon11:c.1510-2A>G;ENST00000586834:exon10:c.789-2A>G)	.	.	0.999988247793601	0.932
18	60232233	A	T	18	62565000	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1752-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1752-2A>T;ENST00000585873:exon11:c.1510-2A>T;ENST00000586834:exon10:c.789-2A>T)	.	.	0.999988247793601	0.932
18	60232234	G	A	18	62565001	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1752-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1752-1G>A;ENST00000585873:exon11:c.1510-1G>A;ENST00000586834:exon10:c.789-1G>A)	.	.	0.999990361384395	0.938
18	60232234	G	C	18	62565001	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1752-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1752-1G>C;ENST00000585873:exon11:c.1510-1G>C;ENST00000586834:exon10:c.789-1G>C)	.	.	0.999990361384395	0.938
18	60232234	G	T	18	62565001	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1752-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1752-1G>T;ENST00000585873:exon11:c.1510-1G>T;ENST00000586834:exon10:c.789-1G>T)	.	.	0.999990361384395	0.938
18	60232235	G	A	18	62565002	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon11:c.G1752A:p.K584K;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.G789A:p.K263K;ENSG00000141664:ENST00000269499:exon11:c.G1752A:p.K584K;	0.917015100058016	0.612
18	60232235	G	C	18	62565002	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.G1752C:p.K584N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.G789C:p.K263N;ENSG00000141664:ENST00000269499:exon11:c.G1752C:p.K584N;	0.998493826933507	0.976
18	60232235	G	T	18	62565002	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.G1752T:p.K584N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.G789T:p.K263N;ENSG00000141664:ENST00000269499:exon11:c.G1752T:p.K584N;	0.999389607120818	0.996
18	60232236	G	A	18	62565003	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.G1753A:p.E585K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.G790A:p.E264K;ENSG00000141664:ENST00000269499:exon11:c.G1753A:p.E585K;	0.98771532057598	0.854
18	60232236	G	C	18	62565003	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.G1753C:p.E585Q;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.G790C:p.E264Q;ENSG00000141664:ENST00000269499:exon11:c.G1753C:p.E585Q;	0.979314312810814	0.866
18	60232236	G	T	18	62565003	y	y	exonic	ZCCHC2	stopgain SNV	ZCCHC2:NM_017742:exon11:c.G1753T:p.E585X;	exonic	ENSG00000141664	stopgain SNV	ENSG00000141664:ENST00000586834:exon10:c.G790T:p.E264X;ENSG00000141664:ENST00000269499:exon11:c.G1753T:p.E585X;	0.987211888648224	0.904
18	60232327	A	C	18	62565094	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.A1844C:p.K615T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.A881C:p.K294T;ENSG00000141664:ENST00000269499:exon11:c.A1844C:p.K615T;	0.853971877963094	0.688
18	60232327	A	G	18	62565094	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.A1844G:p.K615R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.A881G:p.K294R;ENSG00000141664:ENST00000269499:exon11:c.A1844G:p.K615R;	0.521171333087364	0.464
18	60232327	A	T	18	62565094	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.A1844T:p.K615I;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.A881T:p.K294I;ENSG00000141664:ENST00000269499:exon11:c.A1844T:p.K615I;	0.976245232377124	0.648
18	60232328	A	C	18	62565095	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.A1845C:p.K615N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.A882C:p.K294N;ENSG00000141664:ENST00000269499:exon11:c.A1845C:p.K615N;	0.976550472812552	0.876
18	60232328	A	G	18	62565095	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon11:c.A1845G:p.K615K;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.A882G:p.K294K;ENSG00000141664:ENST00000269499:exon11:c.A1845G:p.K615K;	0.975299959310424	0.94
18	60232328	A	T	18	62565095	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.A1845T:p.K615N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.A882T:p.K294N;ENSG00000141664:ENST00000269499:exon11:c.A1845T:p.K615N;	0.977966150010055	0.612
18	60232329	G	A	18	62565096	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.G1846A:p.D616N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.G883A:p.D295N;ENSG00000141664:ENST00000269499:exon11:c.G1846A:p.D616N;	0.999927192663221	0.996
18	60232329	G	C	18	62565096	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.G1846C:p.D616H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.G883C:p.D295H;ENSG00000141664:ENST00000269499:exon11:c.G1846C:p.D616H;	0.999983764016004	0.95
18	60232329	G	T	18	62565096	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon11:c.G1846T:p.D616Y;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon10:c.G883T:p.D295Y;ENSG00000141664:ENST00000269499:exon11:c.G1846T:p.D616Y;	0.999842403450323	0.966
18	60232330	G	A	18	62565097	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1846+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1846+1G>A;ENST00000585873:exon11:c.1604+1G>A;ENST00000586834:exon10:c.883+1G>A)	.	.	0.999990361384395	0.938
18	60232330	G	C	18	62565097	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1846+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1846+1G>C;ENST00000585873:exon11:c.1604+1G>C;ENST00000586834:exon10:c.883+1G>C)	.	.	0.999990361384395	0.938
18	60232330	G	T	18	62565097	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1846+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1846+1G>T;ENST00000585873:exon11:c.1604+1G>T;ENST00000586834:exon10:c.883+1G>T)	.	.	0.999990361384395	0.938
18	60232331	T	A	18	62565098	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1846+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1846+2T>A;ENST00000585873:exon11:c.1604+2T>A;ENST00000586834:exon10:c.883+2T>A)	.	.	0.999988247793601	0.93
18	60232331	T	C	18	62565098	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1846+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1846+2T>C;ENST00000585873:exon11:c.1604+2T>C;ENST00000586834:exon10:c.883+2T>C)	.	.	0.995320650369382	0.704
18	60232331	T	G	18	62565098	y	y	splicing	ZCCHC2(NM_017742:exon11:c.1846+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon11:c.1846+2T>G;ENST00000585873:exon11:c.1604+2T>G;ENST00000586834:exon10:c.883+2T>G)	.	.	0.999988247793601	0.93
18	60232332	A	C	18	62565099	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.989293009617286	0.782
18	60232332	A	G	18	62565099	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00542750031889299	0.184
18	60232332	A	T	18	62565099	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.944953786648796	0.674
18	60232333	A	C	18	62565100	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.972624325131054	0.804
18	60232333	A	G	18	62565100	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.993405759880767	0.818
18	60232333	A	T	18	62565100	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.975389128590908	0.832
18	60232334	G	A	18	62565101	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999504956324856	0.796
18	60232334	G	C	18	62565101	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.996253688218187	0.732
18	60232334	G	T	18	62565101	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.998448764611878	0.658
18	60232335	A	C	18	62565102	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.63310975591251E-5	0.006
18	60232335	A	G	18	62565102	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.27703888624765E-5	0.002
18	60232335	A	T	18	62565102	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.80460396220291E-5	0.01
18	60232336	A	C	18	62565103	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.36340088948343E-5	0.0
18	60232336	A	G	18	62565103	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.1485369245795E-5	0.0
18	60232336	A	T	18	62565103	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.49222253318775E-5	0.0
18	60232337	G	A	18	62565104	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.6857887130806E-5	0.01
18	60232337	G	C	18	62565104	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.26856421164515E-5	0.006
18	60232337	G	T	18	62565104	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.50411501565218E-5	0.004
18	60237324	T	A	18	62570091	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999967842067413	0.976
18	60237324	T	C	18	62570091	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.86578134142755E-4	0.026
18	60237324	T	G	18	62570091	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0368958162374288	0.306
18	60237325	G	A	18	62570092	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00294531749453828	0.074
18	60237325	G	C	18	62570092	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.45256149803876E-5	0.004
18	60237325	G	T	18	62570092	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.04823910315482E-4	0.05
18	60237326	T	A	18	62570093	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.951919043442326	0.702
18	60237326	T	C	18	62570093	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00114707478306272	0.022
18	60237326	T	G	18	62570093	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.794349024254544	0.628
18	60237327	T	A	18	62570094	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.363471816066815	0.588
18	60237327	T	C	18	62570094	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.49151506952026E-4	0.16
18	60237327	T	G	18	62570094	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.353157761701067	0.614
18	60237328	A	C	18	62570095	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.56177198428763E-5	0.0
18	60237328	A	G	18	62570095	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.33140036314214E-5	0.002
18	60237328	A	T	18	62570095	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.34602822664727E-4	0.002
18	60237329	T	A	18	62570096	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.387785847481397	0.356
18	60237329	T	C	18	62570096	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00108081757066186	0.072
18	60237329	T	G	18	62570096	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999939805689513	0.98
18	60237330	T	A	18	62570097	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.548446747448114	0.436
18	60237330	T	C	18	62570097	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0017166482065	0.042
18	60237330	T	G	18	62570097	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.875982599390056	0.48
18	60237331	T	A	18	62570098	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.995019022447292	0.742
18	60237331	T	C	18	62570098	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.113676290582544	0.28
18	60237331	T	G	18	62570098	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.995232296990125	0.726
18	60237332	T	A	18	62570099	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.48177863061113E-4	0.038
18	60237332	T	C	18	62570099	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.67113994020338E-4	0.01
18	60237332	T	G	18	62570099	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.91431628405428E-4	0.004
18	60237333	T	A	18	62570100	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0209373657943336	0.344
18	60237333	T	C	18	62570100	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.83940387398351E-5	0.008
18	60237333	T	G	18	62570100	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.997272983780831	0.75
18	60237334	A	C	18	62570101	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1847-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1847-2A>C;ENST00000585873:exon12:c.1605-2A>C;ENST00000586834:exon11:c.884-2A>C)	.	.	0.999988247793601	0.93
18	60237334	A	G	18	62570101	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1847-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1847-2A>G;ENST00000585873:exon12:c.1605-2A>G;ENST00000586834:exon11:c.884-2A>G)	.	.	0.999988247793601	0.93
18	60237334	A	T	18	62570101	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1847-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1847-2A>T;ENST00000585873:exon12:c.1605-2A>T;ENST00000586834:exon11:c.884-2A>T)	.	.	0.999988247793601	0.93
18	60237335	G	A	18	62570102	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1847-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1847-1G>A;ENST00000585873:exon12:c.1605-1G>A;ENST00000586834:exon11:c.884-1G>A)	.	.	0.999990361384395	0.936
18	60237335	G	C	18	62570102	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1847-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1847-1G>C;ENST00000585873:exon12:c.1605-1G>C;ENST00000586834:exon11:c.884-1G>C)	.	.	0.999990361384395	0.936
18	60237335	G	T	18	62570102	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1847-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1847-1G>T;ENST00000585873:exon12:c.1605-1G>T;ENST00000586834:exon11:c.884-1G>T)	.	.	0.999990361384395	0.936
18	60237336	A	C	18	62570103	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.A1847C:p.D616A;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.A884C:p.D295A;ENSG00000141664:ENST00000269499:exon12:c.A1847C:p.D616A;	0.76300720839415	0.654
18	60237336	A	G	18	62570103	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.A1847G:p.D616G;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.A884G:p.D295G;ENSG00000141664:ENST00000269499:exon12:c.A1847G:p.D616G;	0.757268587633081	0.652
18	60237336	A	T	18	62570103	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.A1847T:p.D616V;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.A884T:p.D295V;ENSG00000141664:ENST00000269499:exon12:c.A1847T:p.D616V;	0.802367270084987	0.58
18	60237337	T	A	18	62570104	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.T1848A:p.D616E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.T885A:p.D295E;ENSG00000141664:ENST00000269499:exon12:c.T1848A:p.D616E;	0.0373742247459765	0.274
18	60237337	T	C	18	62570104	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon12:c.T1848C:p.D616D;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.T885C:p.D295D;ENSG00000141664:ENST00000269499:exon12:c.T1848C:p.D616D;	0.0176516373845439	0.074
18	60237337	T	G	18	62570104	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.T1848G:p.D616E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.T885G:p.D295E;ENSG00000141664:ENST00000269499:exon12:c.T1848G:p.D616E;	0.0269282929666881	0.146
18	60237462	G	A	18	62570229	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.G1973A:p.R658K;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.G1010A:p.R337K;ENSG00000141664:ENST00000269499:exon12:c.G1973A:p.R658K;	0.970762119209316	0.822
18	60237462	G	C	18	62570229	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.G1973C:p.R658T;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.G1010C:p.R337T;ENSG00000141664:ENST00000269499:exon12:c.G1973C:p.R658T;	0.970762119209316	0.824
18	60237462	G	T	18	62570229	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.G1973T:p.R658I;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.G1010T:p.R337I;ENSG00000141664:ENST00000269499:exon12:c.G1973T:p.R658I;	0.997433146340472	0.748
18	60237463	A	C	18	62570230	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.A1974C:p.R658S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.A1011C:p.R337S;ENSG00000141664:ENST00000269499:exon12:c.A1974C:p.R658S;	0.999961688356013	1.0
18	60237463	A	G	18	62570230	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon12:c.A1974G:p.R658R;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.A1011G:p.R337R;ENSG00000141664:ENST00000269499:exon12:c.A1974G:p.R658R;	0.999890295537701	1.0
18	60237463	A	T	18	62570230	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.A1974T:p.R658S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.A1011T:p.R337S;ENSG00000141664:ENST00000269499:exon12:c.A1974T:p.R658S;	0.999961688356013	1.0
18	60237464	G	A	18	62570231	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.G1975A:p.D659N;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.G1012A:p.D338N;ENSG00000141664:ENST00000269499:exon12:c.G1975A:p.D659N;	0.999997011598461	1.0
18	60237464	G	C	18	62570231	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.G1975C:p.D659H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.G1012C:p.D338H;ENSG00000141664:ENST00000269499:exon12:c.G1975C:p.D659H;	0.999996944075756	1.0
18	60237464	G	T	18	62570231	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon12:c.G1975T:p.D659Y;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon11:c.G1012T:p.D338Y;ENSG00000141664:ENST00000269499:exon12:c.G1975T:p.D659Y;	0.999991070381236	1.0
18	60237465	G	A	18	62570232	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1975+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1975+1G>A;ENST00000585873:exon12:c.1733+1G>A;ENST00000586834:exon11:c.1012+1G>A)	.	.	0.999989125585301	0.944
18	60237465	G	C	18	62570232	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1975+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1975+1G>C;ENST00000585873:exon12:c.1733+1G>C;ENST00000586834:exon11:c.1012+1G>C)	.	.	0.999989125585301	0.944
18	60237465	G	T	18	62570232	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1975+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1975+1G>T;ENST00000585873:exon12:c.1733+1G>T;ENST00000586834:exon11:c.1012+1G>T)	.	.	0.999989125585301	0.944
18	60237466	T	A	18	62570233	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1975+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1975+2T>A;ENST00000585873:exon12:c.1733+2T>A;ENST00000586834:exon11:c.1012+2T>A)	.	.	0.999986741007567	0.946
18	60237466	T	C	18	62570233	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1975+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1975+2T>C;ENST00000585873:exon12:c.1733+2T>C;ENST00000586834:exon11:c.1012+2T>C)	.	.	0.9998879279032	0.93
18	60237466	T	G	18	62570233	y	y	splicing	ZCCHC2(NM_017742:exon12:c.1975+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon12:c.1975+2T>G;ENST00000585873:exon12:c.1733+2T>G;ENST00000586834:exon11:c.1012+2T>G)	.	.	0.999986741007567	0.946
18	60237467	T	A	18	62570234	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.10369319817826E-4	0.106
18	60237467	T	C	18	62570234	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.23179227489459E-4	0.084
18	60237467	T	G	18	62570234	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.29249694411025E-4	0.044
18	60237468	T	A	18	62570235	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.94508765469084E-4	0.044
18	60237468	T	C	18	62570235	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0214403143036856	0.236
18	60237468	T	G	18	62570235	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.27802595523721E-4	0.0
18	60237469	G	A	18	62570236	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999955646342363	1.0
18	60237469	G	C	18	62570236	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999955646342363	0.998
18	60237469	G	T	18	62570236	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999938175764794	0.96
18	60237470	C	A	18	62570237	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.32157481804125E-4	0.19
18	60237470	C	G	18	62570237	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.59699597848728E-4	0.074
18	60237470	C	T	18	62570237	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.55378499841708E-4	0.052
18	60237471	T	A	18	62570238	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00268881064148223	0.008
18	60237471	T	C	18	62570238	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00263818026035184	0.01
18	60237471	T	G	18	62570238	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00263818026035184	0.01
18	60237472	C	A	18	62570239	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.05476299061025E-4	0.054
18	60237472	C	G	18	62570239	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.29423302544131E-4	0.05
18	60237472	C	T	18	62570239	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.49091275903417E-5	0.034
18	60241278	T	A	18	62574045	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999286323612904	0.902
18	60241278	T	C	18	62574045	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.72732949033213E-4	0.012
18	60241278	T	G	18	62574045	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.92043151977322E-4	0.166
18	60241279	G	A	18	62574046	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.43419333492864E-5	0.148
18	60241279	G	C	18	62574046	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.23522567215656E-5	0.006
18	60241279	G	T	18	62574046	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.26844773087086E-5	0.006
18	60241280	T	A	18	62574047	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.59828897825642E-4	0.07
18	60241280	T	C	18	62574047	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.82523021920278E-5	0.0
18	60241280	T	G	18	62574047	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.09256857976129E-4	0.06
18	60241281	T	A	18	62574048	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	9.48047732679791E-5	0.074
18	60241281	T	C	18	62574048	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.72098136057646E-5	0.002
18	60241281	T	G	18	62574048	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.454912041286E-5	0.094
18	60241282	T	A	18	62574049	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.20346346107837E-4	0.042
18	60241282	T	C	18	62574049	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.58426024712548E-5	0.0
18	60241282	T	G	18	62574049	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.49891443363434E-5	0.046
18	60241283	T	A	18	62574050	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.81866987381106E-5	0.0
18	60241283	T	C	18	62574050	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.51040574094948E-5	0.0
18	60241283	T	G	18	62574050	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.91667785089834E-5	0.006
18	60241284	C	A	18	62574051	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.9188888890607E-4	0.072
18	60241284	C	G	18	62574051	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.72477816018009E-4	0.11
18	60241284	C	T	18	62574051	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.42126527384265E-5	0.006
18	60241285	T	A	18	62574052	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.36471874592525E-4	0.126
18	60241285	T	C	18	62574052	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.04365511464716E-5	0.002
18	60241285	T	G	18	62574052	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00169787168287241	0.172
18	60241286	T	A	18	62574053	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.80608576262725E-5	0.0
18	60241286	T	C	18	62574053	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.32695542559867E-5	0.0
18	60241286	T	G	18	62574053	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.5739844806768E-5	0.0
18	60241287	T	A	18	62574054	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0121602916636711	0.162
18	60241287	T	C	18	62574054	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.76922818453409E-5	0.024
18	60241287	T	G	18	62574054	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.945010282738622	0.522
18	60241288	A	C	18	62574055	y	y	splicing	ZCCHC2(NM_017742:exon13:c.1976-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.1976-2A>C;ENST00000585873:exon13:c.1734-2A>C;ENST00000586834:exon12:c.1013-2A>C)	.	.	0.999988247793601	0.93
18	60241288	A	G	18	62574055	y	y	splicing	ZCCHC2(NM_017742:exon13:c.1976-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.1976-2A>G;ENST00000585873:exon13:c.1734-2A>G;ENST00000586834:exon12:c.1013-2A>G)	.	.	0.999988247793601	0.93
18	60241288	A	T	18	62574055	y	y	splicing	ZCCHC2(NM_017742:exon13:c.1976-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.1976-2A>T;ENST00000585873:exon13:c.1734-2A>T;ENST00000586834:exon12:c.1013-2A>T)	.	.	0.999988247793601	0.93
18	60241289	G	A	18	62574056	y	y	splicing	ZCCHC2(NM_017742:exon13:c.1976-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.1976-1G>A;ENST00000585873:exon13:c.1734-1G>A;ENST00000586834:exon12:c.1013-1G>A)	.	.	0.999990361384395	0.936
18	60241289	G	C	18	62574056	y	y	splicing	ZCCHC2(NM_017742:exon13:c.1976-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.1976-1G>C;ENST00000585873:exon13:c.1734-1G>C;ENST00000586834:exon12:c.1013-1G>C)	.	.	0.999990361384395	0.936
18	60241289	G	T	18	62574056	y	y	splicing	ZCCHC2(NM_017742:exon13:c.1976-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.1976-1G>T;ENST00000585873:exon13:c.1734-1G>T;ENST00000586834:exon12:c.1013-1G>T)	.	.	0.999990361384395	0.936
18	60241290	A	C	18	62574057	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.A1976C:p.D659A;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon12:c.A1013C:p.D338A;ENSG00000141664:ENST00000269499:exon13:c.A1976C:p.D659A;	0.559885543111181	0.656
18	60241290	A	G	18	62574057	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.A1976G:p.D659G;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon12:c.A1013G:p.D338G;ENSG00000141664:ENST00000269499:exon13:c.A1976G:p.D659G;	0.663960972766022	0.638
18	60241290	A	T	18	62574057	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.A1976T:p.D659V;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon12:c.A1013T:p.D338V;ENSG00000141664:ENST00000269499:exon13:c.A1976T:p.D659V;	0.559885543111181	0.518
18	60241291	C	A	18	62574058	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.C1977A:p.D659E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon12:c.C1014A:p.D338E;ENSG00000141664:ENST00000269499:exon13:c.C1977A:p.D659E;	9.19630921513491E-5	0.064
18	60241291	C	G	18	62574058	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.C1977G:p.D659E;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000586834:exon12:c.C1014G:p.D338E;ENSG00000141664:ENST00000269499:exon13:c.C1977G:p.D659E;	9.76888376849183E-5	0.064
18	60241291	C	T	18	62574058	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon13:c.C1977T:p.D659D;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000586834:exon12:c.C1014T:p.D338D;ENSG00000141664:ENST00000269499:exon13:c.C1977T:p.D659D;	7.06338668293439E-5	0.004
18	60242781	A	C	18	62575548	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.A3467C:p.Q1156P;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.A251C:p.Q84P;ENSG00000141664:ENST00000586834:exon12:c.A2504C:p.Q835P;ENSG00000141664:ENST00000269499:exon13:c.A3467C:p.Q1156P;	0.00124351975974674	0.062
18	60242781	A	G	18	62575548	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.A3467G:p.Q1156R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.A251G:p.Q84R;ENSG00000141664:ENST00000586834:exon12:c.A2504G:p.Q835R;ENSG00000141664:ENST00000269499:exon13:c.A3467G:p.Q1156R;	0.0016232133718622	0.034
18	60242781	A	T	18	62575548	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.A3467T:p.Q1156L;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.A251T:p.Q84L;ENSG00000141664:ENST00000586834:exon12:c.A2504T:p.Q835L;ENSG00000141664:ENST00000269499:exon13:c.A3467T:p.Q1156L;	0.725434130311879	0.534
18	60242782	A	C	18	62575549	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.A3468C:p.Q1156H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.A252C:p.Q84H;ENSG00000141664:ENST00000586834:exon12:c.A2505C:p.Q835H;ENSG00000141664:ENST00000269499:exon13:c.A3468C:p.Q1156H;	0.997179273357472	0.902
18	60242782	A	G	18	62575549	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon13:c.A3468G:p.Q1156Q;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.A252G:p.Q84Q;ENSG00000141664:ENST00000586834:exon12:c.A2505G:p.Q835Q;ENSG00000141664:ENST00000269499:exon13:c.A3468G:p.Q1156Q;	0.938488718082543	0.674
18	60242782	A	T	18	62575549	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.A3468T:p.Q1156H;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.A252T:p.Q84H;ENSG00000141664:ENST00000586834:exon12:c.A2505T:p.Q835H;ENSG00000141664:ENST00000269499:exon13:c.A3468T:p.Q1156H;	0.999021211474488	0.952
18	60242783	G	A	18	62575550	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.G3469A:p.G1157S;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.G253A:p.G85S;ENSG00000141664:ENST00000586834:exon12:c.G2506A:p.G836S;ENSG00000141664:ENST00000269499:exon13:c.G3469A:p.G1157S;	0.999994222381975	0.996
18	60242783	G	C	18	62575550	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.G3469C:p.G1157R;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.G253C:p.G85R;ENSG00000141664:ENST00000586834:exon12:c.G2506C:p.G836R;ENSG00000141664:ENST00000269499:exon13:c.G3469C:p.G1157R;	0.999997001934645	1.0
18	60242783	G	T	18	62575550	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon13:c.G3469T:p.G1157C;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon1:c.G253T:p.G85C;ENSG00000141664:ENST00000586834:exon12:c.G2506T:p.G836C;ENSG00000141664:ENST00000269499:exon13:c.G3469T:p.G1157C;	0.999993018555097	1.0
18	60242784	G	A	18	62575551	y	y	splicing	ZCCHC2(NM_017742:exon13:c.3469+1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.3469+1G>A;ENST00000585873:exon13:c.3227+1G>A;ENST00000586834:exon12:c.2506+1G>A;ENST00000591145:exon1:c.253+1G>A)	.	.	0.999990361384395	0.938
18	60242784	G	C	18	62575551	y	y	splicing	ZCCHC2(NM_017742:exon13:c.3469+1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.3469+1G>C;ENST00000585873:exon13:c.3227+1G>C;ENST00000586834:exon12:c.2506+1G>C;ENST00000591145:exon1:c.253+1G>C)	.	.	0.999990361384395	0.938
18	60242784	G	T	18	62575551	y	y	splicing	ZCCHC2(NM_017742:exon13:c.3469+1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.3469+1G>T;ENST00000585873:exon13:c.3227+1G>T;ENST00000586834:exon12:c.2506+1G>T;ENST00000591145:exon1:c.253+1G>T)	.	.	0.999990361384395	0.938
18	60242785	T	A	18	62575552	y	y	splicing	ZCCHC2(NM_017742:exon13:c.3469+2T>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.3469+2T>A;ENST00000585873:exon13:c.3227+2T>A;ENST00000586834:exon12:c.2506+2T>A;ENST00000591145:exon1:c.253+2T>A)	.	.	0.999988247793601	0.93
18	60242785	T	C	18	62575552	y	y	splicing	ZCCHC2(NM_017742:exon13:c.3469+2T>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.3469+2T>C;ENST00000585873:exon13:c.3227+2T>C;ENST00000586834:exon12:c.2506+2T>C;ENST00000591145:exon1:c.253+2T>C)	.	.	0.98918007292081	0.672
18	60242785	T	G	18	62575552	y	y	splicing	ZCCHC2(NM_017742:exon13:c.3469+2T>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon13:c.3469+2T>G;ENST00000585873:exon13:c.3227+2T>G;ENST00000586834:exon12:c.2506+2T>G;ENST00000591145:exon1:c.253+2T>G)	.	.	0.999988247793601	0.93
18	60242786	A	C	18	62575553	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999794514123305	0.952
18	60242786	A	G	18	62575553	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.99430571352461	0.822
18	60242786	A	T	18	62575553	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999893283701455	0.962
18	60242787	A	C	18	62575554	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.575227994864996	0.618
18	60242787	A	G	18	62575554	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.920528820188216	0.704
18	60242787	A	T	18	62575554	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.951311956041786	0.654
18	60242788	T	A	18	62575555	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.6020964178548E-4	0.02
18	60242788	T	C	18	62575555	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.40440610635586E-4	0.004
18	60242788	T	G	18	62575555	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.49190916753042E-4	0.078
18	60242789	C	A	18	62575556	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00254332090757791	0.066
18	60242789	C	G	18	62575556	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00159624425507525	0.048
18	60242789	C	T	18	62575556	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	4.27306354770959E-4	0.014
18	60242790	A	C	18	62575557	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.68975561061844E-5	0.0
18	60242790	A	G	18	62575557	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	6.66161969650375E-5	0.0
18	60242790	A	T	18	62575557	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.51922260440547E-4	0.012
18	60242791	C	A	18	62575558	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.51791108058077E-5	0.002
18	60242791	C	G	18	62575558	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.62666703684989E-4	0.002
18	60242791	C	T	18	62575558	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	7.51791108058077E-5	0.0
18	60243733	T	A	18	62576500	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0085720203236021	0.224
18	60243733	T	C	18	62576500	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00464483531103493	0.098
18	60243733	T	G	18	62576500	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0074382499592617	0.198
18	60243734	T	A	18	62576501	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.889890790242638	0.756
18	60243734	T	C	18	62576501	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.498499960339316	0.486
18	60243734	T	G	18	62576501	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.838105231194166	0.732
18	60243735	C	A	18	62576502	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.965561879283134	0.74
18	60243735	C	G	18	62576502	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.965561879283134	0.742
18	60243735	C	T	18	62576502	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.930393484225735	0.836
18	60243736	C	A	18	62576503	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.29186413975797	0.396
18	60243736	C	G	18	62576503	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.204369583687269	0.376
18	60243736	C	T	18	62576503	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.35959968586727	0.574
18	60243737	C	A	18	62576504	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0117966633496109	0.094
18	60243737	C	G	18	62576504	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00233325759037691	0.06
18	60243737	C	T	18	62576504	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.25461964782862E-4	0.004
18	60243738	A	C	18	62576505	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	3.50514473043459E-5	0.0
18	60243738	A	G	18	62576505	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	5.09951262288322E-4	0.002
18	60243738	A	T	18	62576505	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	2.0603385608032E-5	0.0
18	60243739	T	A	18	62576506	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.924834453457646	0.554
18	60243739	T	C	18	62576506	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.202917322931426	0.514
18	60243739	T	G	18	62576506	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.999804672508996	0.934
18	60243740	T	A	18	62576507	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.970495397655942	0.706
18	60243740	T	C	18	62576507	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.815495296992052	0.574
18	60243740	T	G	18	62576507	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.896945347421645	0.718
18	60243741	T	A	18	62576508	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.0111514824661745	0.142
18	60243741	T	C	18	62576508	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	8.19002317311386E-4	0.03
18	60243741	T	G	18	62576508	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.00141888467797855	0.048
18	60243742	T	A	18	62576509	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.240525154988806	0.38
18	60243742	T	C	18	62576509	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	1.95918011749787E-4	0.014
18	60243742	T	G	18	62576509	y	y	intronic	ZCCHC2	.	.	intronic	ENSG00000141664	.	.	0.985880100700276	0.87
18	60243743	A	C	18	62576510	y	y	splicing	ZCCHC2(NM_017742:exon14:c.3470-2A>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon14:c.3470-2A>C;ENST00000585873:exon14:c.3228-2A>C;ENST00000586834:exon13:c.2507-2A>C;ENST00000591145:exon2:c.254-2A>C)	.	.	0.999988247793601	0.932
18	60243743	A	G	18	62576510	y	y	splicing	ZCCHC2(NM_017742:exon14:c.3470-2A>G)	.	.	splicing	ENSG00000141664(ENST00000269499:exon14:c.3470-2A>G;ENST00000585873:exon14:c.3228-2A>G;ENST00000586834:exon13:c.2507-2A>G;ENST00000591145:exon2:c.254-2A>G)	.	.	0.999988247793601	0.932
18	60243743	A	T	18	62576510	y	y	splicing	ZCCHC2(NM_017742:exon14:c.3470-2A>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon14:c.3470-2A>T;ENST00000585873:exon14:c.3228-2A>T;ENST00000586834:exon13:c.2507-2A>T;ENST00000591145:exon2:c.254-2A>T)	.	.	0.999988247793601	0.932
18	60243744	G	A	18	62576511	y	y	splicing	ZCCHC2(NM_017742:exon14:c.3470-1G>A)	.	.	splicing	ENSG00000141664(ENST00000269499:exon14:c.3470-1G>A;ENST00000585873:exon14:c.3228-1G>A;ENST00000586834:exon13:c.2507-1G>A;ENST00000591145:exon2:c.254-1G>A)	.	.	0.999990361384395	0.938
18	60243744	G	C	18	62576511	y	y	splicing	ZCCHC2(NM_017742:exon14:c.3470-1G>C)	.	.	splicing	ENSG00000141664(ENST00000269499:exon14:c.3470-1G>C;ENST00000585873:exon14:c.3228-1G>C;ENST00000586834:exon13:c.2507-1G>C;ENST00000591145:exon2:c.254-1G>C)	.	.	0.999990361384395	0.938
18	60243744	G	T	18	62576511	y	y	splicing	ZCCHC2(NM_017742:exon14:c.3470-1G>T)	.	.	splicing	ENSG00000141664(ENST00000269499:exon14:c.3470-1G>T;ENST00000585873:exon14:c.3228-1G>T;ENST00000586834:exon13:c.2507-1G>T;ENST00000591145:exon2:c.254-1G>T)	.	.	0.999990361384395	0.938
18	60243745	G	A	18	62576512	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon14:c.G3470A:p.G1157D;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon2:c.G254A:p.G85D;ENSG00000141664:ENST00000586834:exon13:c.G2507A:p.G836D;ENSG00000141664:ENST00000269499:exon14:c.G3470A:p.G1157D;	0.996996023400455	0.892
18	60243745	G	C	18	62576512	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon14:c.G3470C:p.G1157A;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon2:c.G254C:p.G85A;ENSG00000141664:ENST00000586834:exon13:c.G2507C:p.G836A;ENSG00000141664:ENST00000269499:exon14:c.G3470C:p.G1157A;	0.999688486148583	0.906
18	60243745	G	T	18	62576512	y	y	exonic	ZCCHC2	nonsynonymous SNV	ZCCHC2:NM_017742:exon14:c.G3470T:p.G1157V;	exonic	ENSG00000141664	nonsynonymous SNV	ENSG00000141664:ENST00000591145:exon2:c.G254T:p.G85V;ENSG00000141664:ENST00000586834:exon13:c.G2507T:p.G836V;ENSG00000141664:ENST00000269499:exon14:c.G3470T:p.G1157V;	0.999854118447509	0.976
18	60243746	C	A	18	62576513	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon14:c.C3471A:p.G1157G;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000591145:exon2:c.C255A:p.G85G;ENSG00000141664:ENST00000586834:exon13:c.C2508A:p.G836G;ENSG00000141664:ENST00000269499:exon14:c.C3471A:p.G1157G;	0.793118250434253	0.454
18	60243746	C	G	18	62576513	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon14:c.C3471G:p.G1157G;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000591145:exon2:c.C255G:p.G85G;ENSG00000141664:ENST00000586834:exon13:c.C2508G:p.G836G;ENSG00000141664:ENST00000269499:exon14:c.C3471G:p.G1157G;	0.0574483565864469	0.222
18	60243746	C	T	18	62576513	y	y	exonic	ZCCHC2	synonymous SNV	ZCCHC2:NM_017742:exon14:c.C3471T:p.G1157G;	exonic	ENSG00000141664	synonymous SNV	ENSG00000141664:ENST00000591145:exon2:c.C255T:p.G85G;ENSG00000141664:ENST00000586834:exon13:c.C2508T:p.G836G;ENSG00000141664:ENST00000269499:exon14:c.C3471T:p.G1157G;	0.381611670102274	0.496
18	60243883	A	C	18	62576650	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	7.6236468669626E-4	0.002
18	60243883	A	G	18	62576650	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	7.6236468669626E-4	0.002
18	60243883	A	T	18	62576650	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	9.80257671126134E-4	0.008
18	60243884	A	C	18	62576651	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00535833632805705	0.014
18	60243884	A	G	18	62576651	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00535833632805705	0.012
18	60243884	A	T	18	62576651	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00535833632805705	0.022
18	60243885	G	A	18	62576652	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.042740114834783	0.096
18	60243885	G	C	18	62576652	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.0357573328857635	0.096
18	60243885	G	T	18	62576652	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.042740114834783	0.094
18	60243886	G	A	18	62576653	n	y	UTR3	ZCCHC2	.	.	splicing	ENSG00000141664(ENST00000585873:exon14:c.3368+1G>A;ENST00000591145:exon2:c.394+1G>A)	.	.	0.00233566774876716	0.034
18	60243886	G	C	18	62576653	n	y	UTR3	ZCCHC2	.	.	splicing	ENSG00000141664(ENST00000585873:exon14:c.3368+1G>C;ENST00000591145:exon2:c.394+1G>C)	.	.	0.00159610464863394	0.036
18	60243886	G	T	18	62576653	n	y	UTR3	ZCCHC2	.	.	splicing	ENSG00000141664(ENST00000585873:exon14:c.3368+1G>T;ENST00000591145:exon2:c.394+1G>T)	.	.	0.00236016390716474	0.026
18	60243887	T	A	18	62576654	n	y	UTR3	ZCCHC2	.	.	splicing	ENSG00000141664(ENST00000585873:exon14:c.3368+2T>A;ENST00000591145:exon2:c.394+2T>A)	.	.	0.00535833632805705	0.02
18	60243887	T	C	18	62576654	n	y	UTR3	ZCCHC2	.	.	splicing	ENSG00000141664(ENST00000585873:exon14:c.3368+2T>C;ENST00000591145:exon2:c.394+2T>C)	.	.	0.00535833632805705	0.014
18	60243887	T	G	18	62576654	n	y	UTR3	ZCCHC2	.	.	splicing	ENSG00000141664(ENST00000585873:exon14:c.3368+2T>G;ENST00000591145:exon2:c.394+2T>G)	.	.	0.00535833632805705	0.014
18	60243888	A	C	18	62576655	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	9.80257671126134E-4	0.006
18	60243888	A	G	18	62576655	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	9.80257671126134E-4	0.008
18	60243888	A	T	18	62576655	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	8.89371736124219E-4	0.002
18	60243889	T	A	18	62576656	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00445622272127568	0.026
18	60243889	T	C	18	62576656	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00437100848571084	0.014
18	60243889	T	G	18	62576656	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00437100848571084	0.014
18	60243890	T	A	18	62576657	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00378904365268926	0.028
18	60243890	T	C	18	62576657	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00378904365268926	0.034
18	60243890	T	G	18	62576657	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	0.00378904365268926	0.028
18	60243891	T	A	18	62576658	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	7.70373002829532E-4	0.022
18	60243891	T	C	18	62576658	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	7.70373002829532E-4	0.068
18	60243891	T	G	18	62576658	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	7.70373002829532E-4	0.02
18	60243892	T	A	18	62576659	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	8.14818470700504E-5	0.0
18	60243892	T	C	18	62576659	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	1.16299697617339E-4	0.0
18	60243892	T	G	18	62576659	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	1.16299697617339E-4	0.0
18	60243893	G	A	18	62576660	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	8.8551835119743E-4	0.014
18	60243893	G	C	18	62576660	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	8.8551835119743E-4	0.01
18	60243893	G	T	18	62576660	n	y	UTR3	ZCCHC2	.	.	UTR3	ENSG00000141664	.	.	8.8551835119743E-4	0.012
18	60384490	C	A	18	62717257	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.C1574A:p.A525E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon1:c.C1574A:p.A525E;ENSG00000081913:ENST00000400316:exon1:c.C38A:p.A13E;	0.0164895381276901	0.046
18	60384490	C	G	18	62717257	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.C1574G:p.A525G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon1:c.C1574G:p.A525G;ENSG00000081913:ENST00000400316:exon1:c.C38G:p.A13G;	2.79608027800934E-4	0.014
18	60384490	C	T	18	62717257	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.C1574T:p.A525V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon1:c.C1574T:p.A525V;ENSG00000081913:ENST00000400316:exon1:c.C38T:p.A13V;	0.0550249647860793	0.286
18	60384491	A	C	18	62717258	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon1:c.A1575C:p.A525A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon1:c.A1575C:p.A525A;ENSG00000081913:ENST00000400316:exon1:c.A39C:p.A13A;	0.942583496870807	0.746
18	60384491	A	G	18	62717258	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon1:c.A1575G:p.A525A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon1:c.A1575G:p.A525A;ENSG00000081913:ENST00000400316:exon1:c.A39G:p.A13A;	0.953158027369139	0.834
18	60384491	A	T	18	62717258	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon1:c.A1575T:p.A525A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon1:c.A1575T:p.A525A;ENSG00000081913:ENST00000400316:exon1:c.A39T:p.A13A;	0.927877126276461	0.56
18	60384492	G	A	18	62717259	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.G1576A:p.G526R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon1:c.G1576A:p.G526R;ENSG00000081913:ENST00000400316:exon1:c.G40A:p.G14R;	0.999767083420125	0.982
18	60384492	G	C	18	62717259	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon1:c.G1576C:p.G526R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon1:c.G1576C:p.G526R;ENSG00000081913:ENST00000400316:exon1:c.G40C:p.G14R;	0.999897898330594	0.988
18	60384492	G	T	18	62717259	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon1:c.G1576T:p.G526X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon1:c.G1576T:p.G526X;ENSG00000081913:ENST00000400316:exon1:c.G40T:p.G14X;	0.999901825810209	0.916
18	60384493	G	A	18	62717260	y	y	splicing	PHLPP1(NM_194449:exon1:c.1576+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon1:c.40+1G>A;ENST00000262719:exon1:c.1576+1G>A)	.	.	0.999988568935494	0.932
18	60384493	G	C	18	62717260	y	y	splicing	PHLPP1(NM_194449:exon1:c.1576+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon1:c.40+1G>C;ENST00000262719:exon1:c.1576+1G>C)	.	.	0.999988568935494	0.93
18	60384493	G	T	18	62717260	y	y	splicing	PHLPP1(NM_194449:exon1:c.1576+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon1:c.40+1G>T;ENST00000262719:exon1:c.1576+1G>T)	.	.	0.999988568935494	0.932
18	60384494	T	A	18	62717261	y	y	splicing	PHLPP1(NM_194449:exon1:c.1576+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon1:c.40+2T>A;ENST00000262719:exon1:c.1576+2T>A)	.	.	0.999976497614174	0.876
18	60384494	T	C	18	62717261	y	y	splicing	PHLPP1(NM_194449:exon1:c.1576+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon1:c.40+2T>C;ENST00000262719:exon1:c.1576+2T>C)	.	.	0.970770945384751	0.55
18	60384494	T	G	18	62717261	y	y	splicing	PHLPP1(NM_194449:exon1:c.1576+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon1:c.40+2T>G;ENST00000262719:exon1:c.1576+2T>G)	.	.	0.999976497614174	0.876
18	60384495	A	C	18	62717262	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.992446075935307	0.742
18	60384495	A	G	18	62717262	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0594404323768917	0.16
18	60384495	A	T	18	62717262	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.993349785775104	0.888
18	60384496	A	C	18	62717263	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.642507533077739	0.574
18	60384496	A	G	18	62717263	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.89490070718165	0.596
18	60384496	A	T	18	62717263	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.761763502613722	0.582
18	60384497	G	A	18	62717264	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.987589767462577	0.604
18	60384497	G	C	18	62717264	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.73283143367758	0.506
18	60384497	G	T	18	62717264	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.860929962542097	0.586
18	60384498	G	A	18	62717265	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.30065653775815E-4	0.002
18	60384498	G	C	18	62717265	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.84993838086758E-4	0.018
18	60384498	G	T	18	62717265	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.49741000688541E-4	0.002
18	60384499	A	C	18	62717266	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.93644701995358E-5	0.0
18	60384499	A	G	18	62717266	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.18271232570742E-5	0.0
18	60384499	A	T	18	62717266	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.92711999407781E-5	0.0
18	60384500	A	C	18	62717267	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.02947362869627E-4	0.014
18	60384500	A	G	18	62717267	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.46095613822091E-5	0.0
18	60384500	A	T	18	62717267	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.46095613822091E-5	0.002
18	60491430	G	A	18	62824197	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	nonsynonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.G8A:p.G3E;	1.67406935090243E-5	0.0
18	60491430	G	C	18	62824197	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	nonsynonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.G8C:p.G3A;	1.08378557604853E-5	0.0
18	60491430	G	T	18	62824197	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	nonsynonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.G8T:p.G3V;	1.08378557604853E-5	0.0
18	60491431	A	C	18	62824198	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	synonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.A9C:p.G3G;	5.50570520811733E-5	0.002
18	60491431	A	G	18	62824198	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	synonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.A9G:p.G3G;	5.50570520811733E-5	0.002
18	60491431	A	T	18	62824198	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	synonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.A9T:p.G3G;	8.07028132666917E-5	0.004
18	60491432	T	A	18	62824199	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	nonsynonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.T10A:p.F4I;	6.7395485643605E-5	0.008
18	60491432	T	C	18	62824199	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	nonsynonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.T10C:p.F4L;	6.7395485643605E-5	0.08
18	60491432	T	G	18	62824199	n	y	intronic	PHLPP1	.	.	exonic	ENSG00000215431	nonsynonymous SNV	ENSG00000215431:ENST00000400312:exon1:c.T10G:p.F4V;	2.63141535133926E-5	0.0
18	60491433	G	A	18	62824200	n	y	intronic	PHLPP1	.	.	splicing	ENSG00000215431(ENST00000400312:exon1:c.10+1G>A)	.	.	1.08378557604853E-5	0.0
18	60491433	G	C	18	62824200	n	y	intronic	PHLPP1	.	.	splicing	ENSG00000215431(ENST00000400312:exon1:c.10+1G>C)	.	.	1.08378557604853E-5	0.0
18	60491433	G	T	18	62824200	n	y	intronic	PHLPP1	.	.	splicing	ENSG00000215431(ENST00000400312:exon1:c.10+1G>T)	.	.	1.08378557604853E-5	0.0
18	60491434	T	A	18	62824201	n	y	intronic	PHLPP1	.	.	splicing	ENSG00000215431(ENST00000400312:exon1:c.10+2T>A)	.	.	2.63141535133926E-5	0.0
18	60491434	T	C	18	62824201	n	y	intronic	PHLPP1	.	.	splicing	ENSG00000215431(ENST00000400312:exon1:c.10+2T>C)	.	.	2.63141535133926E-5	0.0
18	60491434	T	G	18	62824201	n	y	intronic	PHLPP1	.	.	splicing	ENSG00000215431(ENST00000400312:exon1:c.10+2T>G)	.	.	2.63141535133926E-5	0.0
18	60491435	A	C	18	62824202	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491435	A	G	18	62824202	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491435	A	T	18	62824202	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.83935518155002E-5	0.002
18	60491436	A	C	18	62824203	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491436	A	G	18	62824203	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491436	A	T	18	62824203	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.83935518155002E-5	0.002
18	60491437	A	C	18	62824204	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491437	A	G	18	62824204	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491437	A	T	18	62824204	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.83935518155002E-5	0.004
18	60491438	A	C	18	62824205	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491438	A	G	18	62824205	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491438	A	T	18	62824205	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.83935518155002E-5	0.004
18	60491439	T	A	18	62824206	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.83935518155002E-5	0.004
18	60491439	T	C	18	62824206	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491439	T	G	18	62824206	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	2.63141535133926E-5	0.0
18	60491440	G	A	18	62824207	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	1.67406935090243E-5	0.0
18	60491440	G	C	18	62824207	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	1.67406935090243E-5	0.0
18	60491440	G	T	18	62824207	n	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913;ENSG00000215431	.	.	1.67406935090243E-5	0.0
18	60497256	T	A	18	62830023	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999926601028596	0.968
18	60497256	T	C	18	62830023	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.79256820598831E-4	0.032
18	60497256	T	G	18	62830023	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.12935026482871	0.306
18	60497257	G	A	18	62830024	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.70008408454369E-5	0.052
18	60497257	G	C	18	62830024	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.83165216454071E-5	0.032
18	60497257	G	T	18	62830024	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.9714560661764E-5	0.016
18	60497258	T	A	18	62830025	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0799868324060709	0.296
18	60497258	T	C	18	62830025	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.48658394532422E-4	0.004
18	60497258	T	G	18	62830025	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0805828297699121	0.27
18	60497259	T	A	18	62830026	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0647511688239758	0.414
18	60497259	T	C	18	62830026	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.86395147356298E-4	0.054
18	60497259	T	G	18	62830026	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0728900683172964	0.388
18	60497260	T	A	18	62830027	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.327883026283799	0.306
18	60497260	T	C	18	62830027	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.92365598180621E-4	0.052
18	60497260	T	G	18	62830027	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0753110507224187	0.264
18	60497261	A	C	18	62830028	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.64096966487453E-4	0.014
18	60497261	A	G	18	62830028	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.90083810626161E-4	0.01
18	60497261	A	T	18	62830028	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.1712196580658E-4	0.002
18	60497262	T	A	18	62830029	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0708292608737472	0.262
18	60497262	T	C	18	62830029	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.95373058593203E-4	0.006
18	60497262	T	G	18	62830029	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999609431551449	0.962
18	60497263	T	A	18	62830030	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.333100023922184	0.434
18	60497263	T	C	18	62830030	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00694113421209108	0.154
18	60497263	T	G	18	62830030	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.840134428680021	0.486
18	60497264	T	A	18	62830031	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.48400936968321E-4	0.002
18	60497264	T	C	18	62830031	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.77648721880685E-5	0.004
18	60497264	T	G	18	62830031	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.23041626417916E-5	0.0
18	60497265	C	A	18	62830032	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.118049264397385	0.368
18	60497265	C	G	18	62830032	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.968760855026564	0.828
18	60497265	C	T	18	62830032	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.47537289229812E-4	0.022
18	60497266	A	C	18	62830033	y	y	splicing	PHLPP1(NM_194449:exon2:c.1577-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.41-2A>C;ENST00000262719:exon2:c.1577-2A>C)	.	.	0.99994568797423	0.938
18	60497266	A	G	18	62830033	y	y	splicing	PHLPP1(NM_194449:exon2:c.1577-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.41-2A>G;ENST00000262719:exon2:c.1577-2A>G)	.	.	0.99994568797423	0.938
18	60497266	A	T	18	62830033	y	y	splicing	PHLPP1(NM_194449:exon2:c.1577-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.41-2A>T;ENST00000262719:exon2:c.1577-2A>T)	.	.	0.99994568797423	0.928
18	60497267	G	A	18	62830034	y	y	splicing	PHLPP1(NM_194449:exon2:c.1577-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.41-1G>A;ENST00000262719:exon2:c.1577-1G>A)	.	.	0.999936930875642	0.912
18	60497267	G	C	18	62830034	y	y	splicing	PHLPP1(NM_194449:exon2:c.1577-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.41-1G>C;ENST00000262719:exon2:c.1577-1G>C)	.	.	0.999957962600827	0.908
18	60497267	G	T	18	62830034	y	y	splicing	PHLPP1(NM_194449:exon2:c.1577-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.41-1G>T;ENST00000262719:exon2:c.1577-1G>T)	.	.	0.999957962600827	0.91
18	60497268	G	A	18	62830035	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.G1577A:p.G526E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.G1577A:p.G526E;ENSG00000081913:ENST00000400316:exon2:c.G41A:p.G14E;	0.841086945436435	0.616
18	60497268	G	C	18	62830035	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.G1577C:p.G526A;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.G1577C:p.G526A;ENSG00000081913:ENST00000400316:exon2:c.G41C:p.G14A;	0.999695031888903	0.984
18	60497268	G	T	18	62830035	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.G1577T:p.G526V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.G1577T:p.G526V;ENSG00000081913:ENST00000400316:exon2:c.G41T:p.G14V;	0.999733278154876	0.994
18	60497269	A	C	18	62830036	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon2:c.A1578C:p.G526G;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1578C:p.G526G;ENSG00000081913:ENST00000400316:exon2:c.A42C:p.G14G;	6.10944244752754E-5	0.0
18	60497269	A	G	18	62830036	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon2:c.A1578G:p.G526G;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1578G:p.G526G;ENSG00000081913:ENST00000400316:exon2:c.A42G:p.G14G;	4.0340121070347E-5	0.016
18	60497269	A	T	18	62830036	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon2:c.A1578T:p.G526G;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1578T:p.G526G;ENSG00000081913:ENST00000400316:exon2:c.A42T:p.G14G;	1.62109371878293E-5	0.0
18	60497462	A	C	18	62830229	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.A1771C:p.K591Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1771C:p.K591Q;ENSG00000081913:ENST00000400316:exon2:c.A235C:p.K79Q;	0.456424617931678	0.614
18	60497462	A	G	18	62830229	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.A1771G:p.K591E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1771G:p.K591E;ENSG00000081913:ENST00000400316:exon2:c.A235G:p.K79E;	0.0662349703560926	0.37
18	60497462	A	T	18	62830229	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon2:c.A1771T:p.K591X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon2:c.A1771T:p.K591X;ENSG00000081913:ENST00000400316:exon2:c.A235T:p.K79X;	0.905716831276767	0.666
18	60497463	A	C	18	62830230	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.A1772C:p.K591T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1772C:p.K591T;ENSG00000081913:ENST00000400316:exon2:c.A236C:p.K79T;	0.973775875410964	0.862
18	60497463	A	G	18	62830230	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.A1772G:p.K591R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1772G:p.K591R;ENSG00000081913:ENST00000400316:exon2:c.A236G:p.K79R;	0.965721303904241	0.898
18	60497463	A	T	18	62830230	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.A1772T:p.K591I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1772T:p.K591I;ENSG00000081913:ENST00000400316:exon2:c.A236T:p.K79I;	0.962212404730398	0.726
18	60497464	A	C	18	62830231	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.A1773C:p.K591N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1773C:p.K591N;ENSG00000081913:ENST00000400316:exon2:c.A237C:p.K79N;	0.359486015951371	0.716
18	60497464	A	G	18	62830231	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon2:c.A1773G:p.K591K;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1773G:p.K591K;ENSG00000081913:ENST00000400316:exon2:c.A237G:p.K79K;	0.00122389511250453	0.056
18	60497464	A	T	18	62830231	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon2:c.A1773T:p.K591N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon2:c.A1773T:p.K591N;ENSG00000081913:ENST00000400316:exon2:c.A237T:p.K79N;	0.368697276095425	0.526
18	60497465	G	A	18	62830232	y	y	splicing	PHLPP1(NM_194449:exon2:c.1773+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.237+1G>A;ENST00000262719:exon2:c.1773+1G>A)	.	.	0.999986675681007	0.93
18	60497465	G	C	18	62830232	y	y	splicing	PHLPP1(NM_194449:exon2:c.1773+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.237+1G>C;ENST00000262719:exon2:c.1773+1G>C)	.	.	0.999986675681007	0.93
18	60497465	G	T	18	62830232	y	y	splicing	PHLPP1(NM_194449:exon2:c.1773+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.237+1G>T;ENST00000262719:exon2:c.1773+1G>T)	.	.	0.999986675681007	0.93
18	60497466	T	A	18	62830233	y	y	splicing	PHLPP1(NM_194449:exon2:c.1773+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.237+2T>A;ENST00000262719:exon2:c.1773+2T>A)	.	.	0.999990155693597	0.928
18	60497466	T	C	18	62830233	y	y	splicing	PHLPP1(NM_194449:exon2:c.1773+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.237+2T>C;ENST00000262719:exon2:c.1773+2T>C)	.	.	0.988318135983905	0.598
18	60497466	T	G	18	62830233	y	y	splicing	PHLPP1(NM_194449:exon2:c.1773+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon2:c.237+2T>G;ENST00000262719:exon2:c.1773+2T>G)	.	.	0.999990155693597	0.928
18	60497467	A	C	18	62830234	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.99986217446673	0.852
18	60497467	A	G	18	62830234	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0266638270051556	0.28
18	60497467	A	T	18	62830234	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.975579819317037	0.826
18	60497468	A	C	18	62830235	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.442842906707433	0.336
18	60497468	A	G	18	62830235	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.852031368539665	0.56
18	60497468	A	T	18	62830235	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.92835028716137	0.542
18	60497469	G	A	18	62830236	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.985107786774088	0.72
18	60497469	G	C	18	62830236	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.98821492847169	0.75
18	60497469	G	T	18	62830236	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999460948485189	0.746
18	60497470	T	A	18	62830237	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.742240031911414	0.44
18	60497470	T	C	18	62830237	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.698080368242142	0.474
18	60497470	T	G	18	62830237	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.413471627221245	0.41
18	60497471	T	A	18	62830238	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.70701943918089E-5	0.002
18	60497471	T	C	18	62830238	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.70701943918089E-5	0.002
18	60497471	T	G	18	62830238	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.70701943918089E-5	0.002
18	60497472	T	A	18	62830239	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.34217371280675E-5	0.01
18	60497472	T	C	18	62830239	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.80830828798344E-5	0.02
18	60497472	T	G	18	62830239	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.44421574559013E-5	0.012
18	60506005	T	A	18	62838772	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00428472668527221	0.236
18	60506005	T	C	18	62838772	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.2743385286217E-4	0.008
18	60506005	T	G	18	62838772	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00556878191424741	0.228
18	60506006	T	A	18	62838773	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999543871225795	0.878
18	60506006	T	C	18	62838773	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.971462612636873	0.362
18	60506006	T	G	18	62838773	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.990182485921279	0.618
18	60506007	G	A	18	62838774	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.55633190904307E-4	0.018
18	60506007	G	C	18	62838774	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.92384712443783E-5	0.002
18	60506007	G	T	18	62838774	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.37415475088467E-5	0.0
18	60506008	C	A	18	62838775	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.17117989638375E-4	0.034
18	60506008	C	G	18	62838775	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.17117989638375E-4	0.036
18	60506008	C	T	18	62838775	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.03792791950902E-5	0.0
18	60506009	T	A	18	62838776	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0929936521498024	0.294
18	60506009	T	C	18	62838776	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.17971695982795E-4	0.006
18	60506009	T	G	18	62838776	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0419985979009944	0.242
18	60506010	T	A	18	62838777	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.013987813817486	0.22
18	60506010	T	C	18	62838777	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.02029548558682E-5	0.0
18	60506010	T	G	18	62838777	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00859943194445836	0.13
18	60506011	T	A	18	62838778	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0875275629880574	0.432
18	60506011	T	C	18	62838778	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.9078660832833E-4	0.012
18	60506011	T	G	18	62838778	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0638886368136666	0.41
18	60506012	T	A	18	62838779	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00190706939375922	0.264
18	60506012	T	C	18	62838779	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.73012897290427E-4	0.04
18	60506012	T	G	18	62838779	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00455608991792804	0.252
18	60506013	A	C	18	62838780	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.29865889580461E-5	0.0
18	60506013	A	G	18	62838780	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.07853858918595E-4	0.002
18	60506013	A	T	18	62838780	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.08207633647003E-5	0.004
18	60506014	T	A	18	62838781	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.81864378510391E-4	0.074
18	60506014	T	C	18	62838781	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.32603800267111E-5	0.02
18	60506014	T	G	18	62838781	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.943609207153672	0.56
18	60506015	A	C	18	62838782	y	y	splicing	PHLPP1(NM_194449:exon3:c.1774-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.238-2A>C;ENST00000262719:exon3:c.1774-2A>C)	.	.	0.999988247793601	0.932
18	60506015	A	G	18	62838782	y	y	splicing	PHLPP1(NM_194449:exon3:c.1774-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.238-2A>G;ENST00000262719:exon3:c.1774-2A>G)	.	.	0.999988247793601	0.932
18	60506015	A	T	18	62838782	y	y	splicing	PHLPP1(NM_194449:exon3:c.1774-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.238-2A>T;ENST00000262719:exon3:c.1774-2A>T)	.	.	0.999988247793601	0.932
18	60506016	G	A	18	62838783	y	y	splicing	PHLPP1(NM_194449:exon3:c.1774-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.238-1G>A;ENST00000262719:exon3:c.1774-1G>A)	.	.	0.999989072007339	0.928
18	60506016	G	C	18	62838783	y	y	splicing	PHLPP1(NM_194449:exon3:c.1774-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.238-1G>C;ENST00000262719:exon3:c.1774-1G>C)	.	.	0.999989072007339	0.928
18	60506016	G	T	18	62838783	y	y	splicing	PHLPP1(NM_194449:exon3:c.1774-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.238-1G>T;ENST00000262719:exon3:c.1774-1G>T)	.	.	0.999989072007339	0.928
18	60506017	G	A	18	62838784	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.G1774A:p.V592I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.G1774A:p.V592I;ENSG00000081913:ENST00000400316:exon3:c.G238A:p.V80I;	0.995883620301195	0.822
18	60506017	G	C	18	62838784	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.G1774C:p.V592L;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.G1774C:p.V592L;ENSG00000081913:ENST00000400316:exon3:c.G238C:p.V80L;	0.998829283877591	0.852
18	60506017	G	T	18	62838784	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.G1774T:p.V592L;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.G1774T:p.V592L;ENSG00000081913:ENST00000400316:exon3:c.G238T:p.V80L;	0.998985932459831	0.836
18	60506018	T	A	18	62838785	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.T1775A:p.V592E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.T1775A:p.V592E;ENSG00000081913:ENST00000400316:exon3:c.T239A:p.V80E;	0.384345671609391	0.496
18	60506018	T	C	18	62838785	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.T1775C:p.V592A;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.T1775C:p.V592A;ENSG00000081913:ENST00000400316:exon3:c.T239C:p.V80A;	0.446004323725728	0.514
18	60506018	T	G	18	62838785	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.T1775G:p.V592G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.T1775G:p.V592G;ENSG00000081913:ENST00000400316:exon3:c.T239G:p.V80G;	0.446004323725728	0.508
18	60506140	A	C	18	62838907	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.A1897C:p.K633Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.A1897C:p.K633Q;ENSG00000081913:ENST00000400316:exon3:c.A361C:p.K121Q;	0.689745958589201	0.658
18	60506140	A	G	18	62838907	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.A1897G:p.K633E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.A1897G:p.K633E;ENSG00000081913:ENST00000400316:exon3:c.A361G:p.K121E;	0.203049327383424	0.384
18	60506140	A	T	18	62838907	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon3:c.A1897T:p.K633X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon3:c.A1897T:p.K633X;ENSG00000081913:ENST00000400316:exon3:c.A361T:p.K121X;	0.920214757740982	0.572
18	60506141	A	C	18	62838908	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.A1898C:p.K633T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.A1898C:p.K633T;ENSG00000081913:ENST00000400316:exon3:c.A362C:p.K121T;	0.975483227951984	0.804
18	60506141	A	G	18	62838908	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.A1898G:p.K633R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.A1898G:p.K633R;ENSG00000081913:ENST00000400316:exon3:c.A362G:p.K121R;	0.989950541984721	0.902
18	60506141	A	T	18	62838908	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.A1898T:p.K633M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.A1898T:p.K633M;ENSG00000081913:ENST00000400316:exon3:c.A362T:p.K121M;	0.98148279885247	0.592
18	60506142	G	A	18	62838909	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon3:c.G1899A:p.K633K;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.G1899A:p.K633K;ENSG00000081913:ENST00000400316:exon3:c.G363A:p.K121K;	0.999894550519998	0.916
18	60506142	G	C	18	62838909	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.G1899C:p.K633N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.G1899C:p.K633N;ENSG00000081913:ENST00000400316:exon3:c.G363C:p.K121N;	0.999972084115581	0.974
18	60506142	G	T	18	62838909	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon3:c.G1899T:p.K633N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon3:c.G1899T:p.K633N;ENSG00000081913:ENST00000400316:exon3:c.G363T:p.K121N;	0.999782324291648	0.994
18	60506143	G	A	18	62838910	y	y	splicing	PHLPP1(NM_194449:exon3:c.1899+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.363+1G>A;ENST00000262719:exon3:c.1899+1G>A)	.	.	0.999989072007339	0.928
18	60506143	G	C	18	62838910	y	y	splicing	PHLPP1(NM_194449:exon3:c.1899+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.363+1G>C;ENST00000262719:exon3:c.1899+1G>C)	.	.	0.999989072007339	0.928
18	60506143	G	T	18	62838910	y	y	splicing	PHLPP1(NM_194449:exon3:c.1899+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.363+1G>T;ENST00000262719:exon3:c.1899+1G>T)	.	.	0.999989072007339	0.928
18	60506144	T	A	18	62838911	y	y	splicing	PHLPP1(NM_194449:exon3:c.1899+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.363+2T>A;ENST00000262719:exon3:c.1899+2T>A)	.	.	0.999988247793601	0.93
18	60506144	T	C	18	62838911	y	y	splicing	PHLPP1(NM_194449:exon3:c.1899+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.363+2T>C;ENST00000262719:exon3:c.1899+2T>C)	.	.	0.99295178357233	0.64
18	60506144	T	G	18	62838911	y	y	splicing	PHLPP1(NM_194449:exon3:c.1899+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon3:c.363+2T>G;ENST00000262719:exon3:c.1899+2T>G)	.	.	0.999988247793601	0.93
18	60506145	A	C	18	62838912	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.782142844846259	0.634
18	60506145	A	G	18	62838912	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00177678576266002	0.052
18	60506145	A	T	18	62838912	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.751540030875125	0.578
18	60506146	A	C	18	62838913	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.124676500754429	0.288
18	60506146	A	G	18	62838913	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.276416200581132	0.334
18	60506146	A	T	18	62838913	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.112549081847864	0.328
18	60506147	G	A	18	62838914	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.810950756119046	0.542
18	60506147	G	C	18	62838914	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.747724540444591	0.58
18	60506147	G	T	18	62838914	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.950516196410592	0.536
18	60506148	C	A	18	62838915	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.39147957923596E-4	0.118
18	60506148	C	G	18	62838915	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00137452840079088	0.104
18	60506148	C	T	18	62838915	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.93766267933271E-4	0.078
18	60506149	A	C	18	62838916	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.14971862334513E-5	0.0
18	60506149	A	G	18	62838916	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.14971862334513E-5	0.002
18	60506149	A	T	18	62838916	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.14971862334513E-5	0.0
18	60506150	A	C	18	62838917	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.05808194911997E-5	0.002
18	60506150	A	G	18	62838917	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.05808194911997E-5	0.0
18	60506150	A	T	18	62838917	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.58255349957421E-5	0.002
18	60527656	A	C	18	62860423	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.79604638274806E-5	0.0
18	60527656	A	G	18	62860423	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.70100212339838E-5	0.006
18	60527656	A	T	18	62860423	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.2955199283341E-5	0.0
18	60527657	T	A	18	62860424	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0029986382464284	0.28
18	60527657	T	C	18	62860424	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00105089856548745	0.084
18	60527657	T	G	18	62860424	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999450412081944	0.892
18	60527658	C	A	18	62860425	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.32697464671319E-4	0.028
18	60527658	C	G	18	62860425	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.93807221505652E-4	0.026
18	60527658	C	T	18	62860425	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.95714078353152E-5	0.004
18	60527659	C	A	18	62860426	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.139068931656E-4	0.044
18	60527659	C	G	18	62860426	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.32376377658074E-4	0.046
18	60527659	C	T	18	62860426	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.43007036528176E-5	0.03
18	60527660	C	A	18	62860427	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.21312978056154E-4	0.028
18	60527660	C	G	18	62860427	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.36083467204141E-4	0.024
18	60527660	C	T	18	62860427	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.45740511818122E-5	0.012
18	60527661	C	A	18	62860428	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.67996455648219E-4	0.054
18	60527661	C	G	18	62860428	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.79874106505547E-4	0.154
18	60527661	C	T	18	62860428	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.24546467809186E-5	0.0
18	60527662	C	A	18	62860429	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.67455155538531E-4	0.042
18	60527662	C	G	18	62860429	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.42174788625297E-4	0.036
18	60527662	C	T	18	62860429	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.77441591825843E-5	0.0
18	60527663	T	A	18	62860430	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00543963608239807	0.298
18	60527663	T	C	18	62860430	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.05164090170565E-4	0.036
18	60527663	T	G	18	62860430	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0027594145070531	0.27
18	60527664	T	A	18	62860431	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.60490734089675E-5	0.004
18	60527664	T	C	18	62860431	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.79393439194822E-5	0.002
18	60527664	T	G	18	62860431	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.01342751532363E-5	0.002
18	60527665	T	A	18	62860432	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00837985018483097	0.212
18	60527665	T	C	18	62860432	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.37016226658767E-4	0.02
18	60527665	T	G	18	62860432	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.997448957705852	0.714
18	60527666	A	C	18	62860433	y	y	splicing	PHLPP1(NM_194449:exon4:c.1900-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.364-2A>C;ENST00000262719:exon4:c.1900-2A>C)	.	.	0.999988247793601	0.93
18	60527666	A	G	18	62860433	y	y	splicing	PHLPP1(NM_194449:exon4:c.1900-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.364-2A>G;ENST00000262719:exon4:c.1900-2A>G)	.	.	0.999988247793601	0.93
18	60527666	A	T	18	62860433	y	y	splicing	PHLPP1(NM_194449:exon4:c.1900-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.364-2A>T;ENST00000262719:exon4:c.1900-2A>T)	.	.	0.999988247793601	0.93
18	60527667	G	A	18	62860434	y	y	splicing	PHLPP1(NM_194449:exon4:c.1900-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.364-1G>A;ENST00000262719:exon4:c.1900-1G>A)	.	.	0.999990361384395	0.938
18	60527667	G	C	18	62860434	y	y	splicing	PHLPP1(NM_194449:exon4:c.1900-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.364-1G>C;ENST00000262719:exon4:c.1900-1G>C)	.	.	0.999990361384395	0.938
18	60527667	G	T	18	62860434	y	y	splicing	PHLPP1(NM_194449:exon4:c.1900-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.364-1G>T;ENST00000262719:exon4:c.1900-1G>T)	.	.	0.999990361384395	0.938
18	60527668	G	A	18	62860435	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.G1900A:p.V634I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.G1900A:p.V634I;ENSG00000081913:ENST00000400316:exon4:c.G364A:p.V122I;	0.99750644564012	0.816
18	60527668	G	C	18	62860435	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.G1900C:p.V634L;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.G1900C:p.V634L;ENSG00000081913:ENST00000400316:exon4:c.G364C:p.V122L;	0.999894873591361	0.878
18	60527668	G	T	18	62860435	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.G1900T:p.V634F;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.G1900T:p.V634F;ENSG00000081913:ENST00000400316:exon4:c.G364T:p.V122F;	0.999917809272063	0.944
18	60527669	T	A	18	62860436	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.T1901A:p.V634D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.T1901A:p.V634D;ENSG00000081913:ENST00000400316:exon4:c.T365A:p.V122D;	0.540410297830809	0.692
18	60527669	T	C	18	62860436	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.T1901C:p.V634A;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.T1901C:p.V634A;ENSG00000081913:ENST00000400316:exon4:c.T365C:p.V122A;	0.495825352966805	0.638
18	60527669	T	G	18	62860436	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.T1901G:p.V634G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.T1901G:p.V634G;ENSG00000081913:ENST00000400316:exon4:c.T365G:p.V122G;	0.414141277702389	0.634
18	60527832	A	C	18	62860599	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.A2064C:p.Q688H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.A2064C:p.Q688H;ENSG00000081913:ENST00000400316:exon4:c.A528C:p.Q176H;	7.56839983418142E-6	0.006
18	60527832	A	G	18	62860599	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon4:c.A2064G:p.Q688Q;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.A2064G:p.Q688Q;ENSG00000081913:ENST00000400316:exon4:c.A528G:p.Q176Q;	2.23350246520804E-4	0.02
18	60527832	A	T	18	62860599	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.A2064T:p.Q688H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.A2064T:p.Q688H;ENSG00000081913:ENST00000400316:exon4:c.A528T:p.Q176H;	5.07287700139481E-4	0.158
18	60527833	A	C	18	62860600	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon4:c.A2065C:p.R689R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.A2065C:p.R689R;ENSG00000081913:ENST00000400316:exon4:c.A529C:p.R177R;	0.595046546964867	0.716
18	60527833	A	G	18	62860600	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.A2065G:p.R689G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.A2065G:p.R689G;ENSG00000081913:ENST00000400316:exon4:c.A529G:p.R177G;	0.783194879164565	0.72
18	60527833	A	T	18	62860600	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.A2065T:p.R689W;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.A2065T:p.R689W;ENSG00000081913:ENST00000400316:exon4:c.A529T:p.R177W;	0.841956341011841	0.566
18	60527834	G	A	18	62860601	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.G2066A:p.R689K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.G2066A:p.R689K;ENSG00000081913:ENST00000400316:exon4:c.G530A:p.R177K;	0.999963148429769	0.964
18	60527834	G	C	18	62860601	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.G2066C:p.R689T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.G2066C:p.R689T;ENSG00000081913:ENST00000400316:exon4:c.G530C:p.R177T;	0.999941902093875	0.908
18	60527834	G	T	18	62860601	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon4:c.G2066T:p.R689M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon4:c.G2066T:p.R689M;ENSG00000081913:ENST00000400316:exon4:c.G530T:p.R177M;	0.999922401787822	0.99
18	60527835	G	A	18	62860602	y	y	splicing	PHLPP1(NM_194449:exon4:c.2066+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.530+1G>A;ENST00000262719:exon4:c.2066+1G>A)	.	.	0.999990361384395	0.938
18	60527835	G	C	18	62860602	y	y	splicing	PHLPP1(NM_194449:exon4:c.2066+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.530+1G>C;ENST00000262719:exon4:c.2066+1G>C)	.	.	0.999990361384395	0.938
18	60527835	G	T	18	62860602	y	y	splicing	PHLPP1(NM_194449:exon4:c.2066+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.530+1G>T;ENST00000262719:exon4:c.2066+1G>T)	.	.	0.999990361384395	0.938
18	60527836	T	A	18	62860603	y	y	splicing	PHLPP1(NM_194449:exon4:c.2066+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.530+2T>A;ENST00000262719:exon4:c.2066+2T>A)	.	.	0.999988247793601	0.932
18	60527836	T	C	18	62860603	y	y	splicing	PHLPP1(NM_194449:exon4:c.2066+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.530+2T>C;ENST00000262719:exon4:c.2066+2T>C)	.	.	0.996388929962285	0.716
18	60527836	T	G	18	62860603	y	y	splicing	PHLPP1(NM_194449:exon4:c.2066+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon4:c.530+2T>G;ENST00000262719:exon4:c.2066+2T>G)	.	.	0.999988247793601	0.932
18	60527837	A	C	18	62860604	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.980895028963235	0.748
18	60527837	A	G	18	62860604	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00197162180917412	0.058
18	60527837	A	T	18	62860604	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.976357844435054	0.692
18	60527838	A	C	18	62860605	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.966196278234698	0.688
18	60527838	A	G	18	62860605	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.970507350275219	0.746
18	60527838	A	T	18	62860605	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.987118354101486	0.81
18	60527839	G	A	18	62860606	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.766451617747776	0.534
18	60527839	G	C	18	62860606	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.83424698113681	0.602
18	60527839	G	T	18	62860606	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.954344404821334	0.646
18	60527840	C	A	18	62860607	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.26083973698181E-5	0.02
18	60527840	C	G	18	62860607	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.78013130928203E-5	0.028
18	60527840	C	T	18	62860607	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.22292933898703E-5	0.006
18	60527841	C	A	18	62860608	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.5982790009972E-4	0.002
18	60527841	C	G	18	62860608	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.33698758487849E-4	0.022
18	60527841	C	T	18	62860608	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.10579896496498E-4	0.002
18	60527842	T	A	18	62860609	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.27298432089634E-4	0.07
18	60527842	T	C	18	62860609	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.13655111611138E-4	0.014
18	60527842	T	G	18	62860609	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.96360328765731E-5	0.012
18	60562232	T	A	18	62894999	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.688879824151973	0.46
18	60562232	T	C	18	62894999	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.21585553064279E-6	0.016
18	60562232	T	G	18	62894999	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.076620555436635	0.198
18	60562233	T	A	18	62895000	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.995395678616172	0.768
18	60562233	T	C	18	62895000	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0426753761310691	0.256
18	60562233	T	G	18	62895000	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.886364417149014	0.666
18	60562234	A	C	18	62895001	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0185437826020309	0.366
18	60562234	A	G	18	62895001	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0412236737553067	0.23
18	60562234	A	T	18	62895001	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.018489525928773	0.368
18	60562235	T	A	18	62895002	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.660440729422067	0.546
18	60562235	T	C	18	62895002	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00357333928021024	0.084
18	60562235	T	G	18	62895002	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999841331547535	0.93
18	60562236	T	A	18	62895003	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999911308314851	0.98
18	60562236	T	C	18	62895003	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.84317199318658E-5	0.0
18	60562236	T	G	18	62895003	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.6812181336224	0.642
18	60562237	G	A	18	62895004	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.18701277711246E-4	0.032
18	60562237	G	C	18	62895004	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.18648719063693E-5	0.016
18	60562237	G	T	18	62895004	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.31464795597768E-5	0.016
18	60562238	T	A	18	62895005	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.026949611229557	0.444
18	60562238	T	C	18	62895005	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.18246690941949E-4	0.006
18	60562238	T	G	18	62895005	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0695729389168489	0.48
18	60562239	A	C	18	62895006	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.66337178006694E-4	0.01
18	60562239	A	G	18	62895006	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.31775050933497E-5	0.008
18	60562239	A	T	18	62895006	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.0669830532919E-4	0.08
18	60562240	A	C	18	62895007	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.57580195046668E-4	0.01
18	60562240	A	G	18	62895007	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.997674822204467	0.944
18	60562240	A	T	18	62895007	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.2183026935391E-4	0.026
18	60562241	T	A	18	62895008	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.358618714453838	0.294
18	60562241	T	C	18	62895008	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.04022894239711E-5	0.0
18	60562241	T	G	18	62895008	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998941692749398	0.812
18	60562242	A	C	18	62895009	y	y	splicing	PHLPP1(NM_194449:exon5:c.2067-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.531-2A>C;ENST00000262719:exon5:c.2067-2A>C)	.	.	0.999988247793601	0.932
18	60562242	A	G	18	62895009	y	y	splicing	PHLPP1(NM_194449:exon5:c.2067-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.531-2A>G;ENST00000262719:exon5:c.2067-2A>G)	.	.	0.999988247793601	0.932
18	60562242	A	T	18	62895009	y	y	splicing	PHLPP1(NM_194449:exon5:c.2067-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.531-2A>T;ENST00000262719:exon5:c.2067-2A>T)	.	.	0.999988247793601	0.932
18	60562243	G	A	18	62895010	y	y	splicing	PHLPP1(NM_194449:exon5:c.2067-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.531-1G>A;ENST00000262719:exon5:c.2067-1G>A)	.	.	0.999990361384395	0.938
18	60562243	G	C	18	62895010	y	y	splicing	PHLPP1(NM_194449:exon5:c.2067-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.531-1G>C;ENST00000262719:exon5:c.2067-1G>C)	.	.	0.999990361384395	0.938
18	60562243	G	T	18	62895010	y	y	splicing	PHLPP1(NM_194449:exon5:c.2067-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.531-1G>T;ENST00000262719:exon5:c.2067-1G>T)	.	.	0.999990361384395	0.938
18	60562244	G	A	18	62895011	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon5:c.G2067A:p.R689R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.G2067A:p.R689R;ENSG00000081913:ENST00000400316:exon5:c.G531A:p.R177R;	0.500433385573443	0.462
18	60562244	G	C	18	62895011	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.G2067C:p.R689S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.G2067C:p.R689S;ENSG00000081913:ENST00000400316:exon5:c.G531C:p.R177S;	0.995335577115474	0.92
18	60562244	G	T	18	62895011	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.G2067T:p.R689S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.G2067T:p.R689S;ENSG00000081913:ENST00000400316:exon5:c.G531T:p.R177S;	0.99833167142998	0.954
18	60562245	T	A	18	62895012	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.T2068A:p.F690I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.T2068A:p.F690I;ENSG00000081913:ENST00000400316:exon5:c.T532A:p.F178I;	0.530328186798294	0.684
18	60562245	T	C	18	62895012	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.T2068C:p.F690L;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.T2068C:p.F690L;ENSG00000081913:ENST00000400316:exon5:c.T532C:p.F178L;	0.526361668803712	0.672
18	60562245	T	G	18	62895012	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.T2068G:p.F690V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.T2068G:p.F690V;ENSG00000081913:ENST00000400316:exon5:c.T532G:p.F178V;	0.453568649449214	0.606
18	60562388	C	A	18	62895155	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.C2211A:p.H737Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.C2211A:p.H737Q;ENSG00000081913:ENST00000400316:exon5:c.C675A:p.H225Q;	0.00514874768791102	0.15
18	60562388	C	G	18	62895155	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.C2211G:p.H737Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.C2211G:p.H737Q;ENSG00000081913:ENST00000400316:exon5:c.C675G:p.H225Q;	0.111544773562792	0.212
18	60562388	C	T	18	62895155	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon5:c.C2211T:p.H737H;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.C2211T:p.H737H;ENSG00000081913:ENST00000400316:exon5:c.C675T:p.H225H;	0.998044869001782	0.87
18	60562389	A	C	18	62895156	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.A2212C:p.N738H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.A2212C:p.N738H;ENSG00000081913:ENST00000400316:exon5:c.A676C:p.N226H;	0.999926696876958	0.998
18	60562389	A	G	18	62895156	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.A2212G:p.N738D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.A2212G:p.N738D;ENSG00000081913:ENST00000400316:exon5:c.A676G:p.N226D;	0.99994935178951	0.998
18	60562389	A	T	18	62895156	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.A2212T:p.N738Y;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.A2212T:p.N738Y;ENSG00000081913:ENST00000400316:exon5:c.A676T:p.N226Y;	0.999971190838488	0.998
18	60562390	A	C	18	62895157	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.A2213C:p.N738T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.A2213C:p.N738T;ENSG00000081913:ENST00000400316:exon5:c.A677C:p.N226T;	0.704787546614507	0.742
18	60562390	A	G	18	62895157	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.A2213G:p.N738S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.A2213G:p.N738S;ENSG00000081913:ENST00000400316:exon5:c.A677G:p.N226S;	0.486339172982092	0.256
18	60562390	A	T	18	62895157	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon5:c.A2213T:p.N738I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon5:c.A2213T:p.N738I;ENSG00000081913:ENST00000400316:exon5:c.A677T:p.N226I;	0.986216660961835	0.584
18	60562391	G	A	18	62895158	y	y	splicing	PHLPP1(NM_194449:exon5:c.2213+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.677+1G>A;ENST00000262719:exon5:c.2213+1G>A)	.	.	0.999989125585301	0.944
18	60562391	G	C	18	62895158	y	y	splicing	PHLPP1(NM_194449:exon5:c.2213+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.677+1G>C;ENST00000262719:exon5:c.2213+1G>C)	.	.	0.999989125585301	0.944
18	60562391	G	T	18	62895158	y	y	splicing	PHLPP1(NM_194449:exon5:c.2213+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.677+1G>T;ENST00000262719:exon5:c.2213+1G>T)	.	.	0.999989125585301	0.944
18	60562392	T	A	18	62895159	y	y	splicing	PHLPP1(NM_194449:exon5:c.2213+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.677+2T>A;ENST00000262719:exon5:c.2213+2T>A)	.	.	0.999986741007567	0.946
18	60562392	T	C	18	62895159	y	y	splicing	PHLPP1(NM_194449:exon5:c.2213+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.677+2T>C;ENST00000262719:exon5:c.2213+2T>C)	.	.	0.999908423438336	0.882
18	60562392	T	G	18	62895159	y	y	splicing	PHLPP1(NM_194449:exon5:c.2213+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon5:c.677+2T>G;ENST00000262719:exon5:c.2213+2T>G)	.	.	0.999986741007567	0.934
18	60562393	G	A	18	62895160	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.76545918182661E-4	0.13
18	60562393	G	C	18	62895160	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.964712470191972	0.532
18	60562393	G	T	18	62895160	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.639794645996111	0.4
18	60562394	T	A	18	62895161	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.36921585510267E-5	0.008
18	60562394	T	C	18	62895161	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.83656900302835E-5	0.064
18	60562394	T	G	18	62895161	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.9216960952908E-4	0.092
18	60562395	G	A	18	62895162	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999973604428744	1.0
18	60562395	G	C	18	62895162	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999971366151413	1.0
18	60562395	G	T	18	62895162	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999971366151413	0.98
18	60562396	T	A	18	62895163	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998683743914484	0.754
18	60562396	T	C	18	62895163	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.976357081907524	0.826
18	60562396	T	G	18	62895163	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.997787357786157	0.812
18	60562397	A	C	18	62895164	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.42663483697088E-4	0.002
18	60562397	A	G	18	62895164	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.52791318451499E-4	0.048
18	60562397	A	T	18	62895164	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.73658108338374E-4	0.068
18	60562398	C	A	18	62895165	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.02025443898442E-4	0.028
18	60562398	C	G	18	62895165	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.7058924765242E-4	0.07
18	60562398	C	T	18	62895165	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.12418598113673E-4	0.0
18	60563002	T	A	18	62895769	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.875441000036289	0.554
18	60563002	T	C	18	62895769	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.09784799708373E-4	0.064
18	60563002	T	G	18	62895769	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.839266466545425	0.53
18	60563003	T	A	18	62895770	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.98683874566957	0.796
18	60563003	T	C	18	62895770	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.407600129562556	0.404
18	60563003	T	G	18	62895770	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.963779179361402	0.686
18	60563004	T	A	18	62895771	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.97757838786511	0.666
18	60563004	T	C	18	62895771	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.22924635542679E-4	0.184
18	60563004	T	G	18	62895771	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.899684187274373	0.59
18	60563005	C	A	18	62895772	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0782652666030174	0.13
18	60563005	C	G	18	62895772	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0183223888323496	0.102
18	60563005	C	T	18	62895772	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0255704929944553	0.258
18	60563006	T	A	18	62895773	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00647045557442143	0.128
18	60563006	T	C	18	62895773	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.24859140552668E-5	0.0
18	60563006	T	G	18	62895773	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0146210747399706	0.174
18	60563007	C	A	18	62895774	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00316407127735599	0.12
18	60563007	C	G	18	62895774	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00292638104811061	0.164
18	60563007	C	T	18	62895774	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.97016511114219E-5	0.01
18	60563008	T	A	18	62895775	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.600908654819816	0.564
18	60563008	T	C	18	62895775	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.02022802343606E-4	0.014
18	60563008	T	G	18	62895775	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.387213252630429	0.618
18	60563009	A	C	18	62895776	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.9091673923521E-4	0.08
18	60563009	A	G	18	62895776	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.37099913585906E-4	0.05
18	60563009	A	T	18	62895776	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.93724639653487E-4	0.012
18	60563010	A	C	18	62895777	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.04191341904772E-4	0.038
18	60563010	A	G	18	62895777	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.986771718872115	0.798
18	60563010	A	T	18	62895777	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.88192422799716E-4	0.044
18	60563011	T	A	18	62895778	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.82072362982326E-4	0.134
18	60563011	T	C	18	62895778	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.0363968841762E-5	0.0
18	60563011	T	G	18	62895778	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.956597456097476	0.742
18	60563012	A	C	18	62895779	y	y	splicing	PHLPP1(NM_194449:exon6:c.2214-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.678-2A>C;ENST00000262719:exon6:c.2214-2A>C)	.	.	0.999988247793601	0.928
18	60563012	A	G	18	62895779	y	y	splicing	PHLPP1(NM_194449:exon6:c.2214-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.678-2A>G;ENST00000262719:exon6:c.2214-2A>G)	.	.	0.999988247793601	0.928
18	60563012	A	T	18	62895779	y	y	splicing	PHLPP1(NM_194449:exon6:c.2214-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.678-2A>T;ENST00000262719:exon6:c.2214-2A>T)	.	.	0.999988247793601	0.928
18	60563013	G	A	18	62895780	y	y	splicing	PHLPP1(NM_194449:exon6:c.2214-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.678-1G>A;ENST00000262719:exon6:c.2214-1G>A)	.	.	0.999986675681007	0.932
18	60563013	G	C	18	62895780	y	y	splicing	PHLPP1(NM_194449:exon6:c.2214-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.678-1G>C;ENST00000262719:exon6:c.2214-1G>C)	.	.	0.999986675681007	0.932
18	60563013	G	T	18	62895780	y	y	splicing	PHLPP1(NM_194449:exon6:c.2214-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.678-1G>T;ENST00000262719:exon6:c.2214-1G>T)	.	.	0.999986675681007	0.932
18	60563014	C	A	18	62895781	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.C2214A:p.N738K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.C2214A:p.N738K;ENSG00000081913:ENST00000400316:exon6:c.C678A:p.N226K;	1.4768290979239E-4	0.08
18	60563014	C	G	18	62895781	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.C2214G:p.N738K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.C2214G:p.N738K;ENSG00000081913:ENST00000400316:exon6:c.C678G:p.N226K;	2.71184498311486E-4	0.132
18	60563014	C	T	18	62895781	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon6:c.C2214T:p.N738N;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.C2214T:p.N738N;ENSG00000081913:ENST00000400316:exon6:c.C678T:p.N226N;	5.44507127665136E-4	0.096
18	60563015	T	A	18	62895782	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.T2215A:p.L739I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.T2215A:p.L739I;ENSG00000081913:ENST00000400316:exon6:c.T679A:p.L227I;	0.00952226916783532	0.12
18	60563015	T	C	18	62895782	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon6:c.T2215C:p.L739L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.T2215C:p.L739L;ENSG00000081913:ENST00000400316:exon6:c.T679C:p.L227L;	0.00260614605187176	0.05
18	60563015	T	G	18	62895782	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.T2215G:p.L739V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.T2215G:p.L739V;ENSG00000081913:ENST00000400316:exon6:c.T679G:p.L227V;	0.013051614577048	0.104
18	60563242	A	C	18	62896009	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon6:c.A2442C:p.L814L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.A2442C:p.L814L;ENSG00000081913:ENST00000400316:exon6:c.A906C:p.L302L;	8.85769929040969E-5	0.018
18	60563242	A	G	18	62896009	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon6:c.A2442G:p.L814L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.A2442G:p.L814L;ENSG00000081913:ENST00000400316:exon6:c.A906G:p.L302L;	2.1899940511986E-4	0.018
18	60563242	A	T	18	62896009	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon6:c.A2442T:p.L814L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.A2442T:p.L814L;ENSG00000081913:ENST00000400316:exon6:c.A906T:p.L302L;	0.10204277662634	0.442
18	60563243	A	C	18	62896010	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon6:c.A2443C:p.R815R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.A2443C:p.R815R;ENSG00000081913:ENST00000400316:exon6:c.A907C:p.R303R;	0.995599488447798	0.942
18	60563243	A	G	18	62896010	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.A2443G:p.R815G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.A2443G:p.R815G;ENSG00000081913:ENST00000400316:exon6:c.A907G:p.R303G;	0.99975018342417	0.994
18	60563243	A	T	18	62896010	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.A2443T:p.R815W;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.A2443T:p.R815W;ENSG00000081913:ENST00000400316:exon6:c.A907T:p.R303W;	0.999892722882898	0.974
18	60563244	G	A	18	62896011	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.G2444A:p.R815K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.G2444A:p.R815K;ENSG00000081913:ENST00000400316:exon6:c.G908A:p.R303K;	0.999992913672501	0.998
18	60563244	G	C	18	62896011	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.G2444C:p.R815T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.G2444C:p.R815T;ENSG00000081913:ENST00000400316:exon6:c.G908C:p.R303T;	0.999995996405907	0.998
18	60563244	G	T	18	62896011	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.G2444T:p.R815M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon6:c.G2444T:p.R815M;ENSG00000081913:ENST00000400316:exon6:c.G908T:p.R303M;	0.999953178082007	0.99
18	60563245	G	A	18	62896012	y	y	splicing	PHLPP1(NM_194449:exon6:c.2444+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.908+1G>A;ENST00000262719:exon6:c.2444+1G>A)	.	.	0.999985532734767	0.936
18	60563245	G	C	18	62896012	y	y	splicing	PHLPP1(NM_194449:exon6:c.2444+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.908+1G>C;ENST00000262719:exon6:c.2444+1G>C)	.	.	0.999985532734767	0.936
18	60563245	G	T	18	62896012	y	y	splicing	PHLPP1(NM_194449:exon6:c.2444+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.908+1G>T;ENST00000262719:exon6:c.2444+1G>T)	.	.	0.999985532734767	0.936
18	60563246	T	A	18	62896013	y	y	splicing	PHLPP1(NM_194449:exon6:c.2444+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.908+2T>A;ENST00000262719:exon6:c.2444+2T>A)	.	.	0.999988247793601	0.928
18	60563246	T	C	18	62896013	y	y	splicing	PHLPP1(NM_194449:exon6:c.2444+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.908+2T>C;ENST00000262719:exon6:c.2444+2T>C)	.	.	0.99340600729494	0.668
18	60563246	T	G	18	62896013	y	y	splicing	PHLPP1(NM_194449:exon6:c.2444+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon6:c.908+2T>G;ENST00000262719:exon6:c.2444+2T>G)	.	.	0.999988247793601	0.928
18	60563247	A	C	18	62896014	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999932658137838	0.938
18	60563247	A	G	18	62896014	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.903019280080307	0.854
18	60563247	A	T	18	62896014	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999936888381486	0.966
18	60563248	A	C	18	62896015	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0804167736091868	0.46
18	60563248	A	G	18	62896015	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.499247608656596	0.386
18	60563248	A	T	18	62896015	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.75653183866406	0.434
18	60563249	C	A	18	62896016	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.58196679493434E-4	0.056
18	60563249	C	G	18	62896016	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.22586042266958E-4	0.094
18	60563249	C	T	18	62896016	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00173233103836678	0.056
18	60563250	C	A	18	62896017	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.8910571374064E-4	0.028
18	60563250	C	G	18	62896017	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.44164463330036E-4	0.014
18	60563250	C	T	18	62896017	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.86703754488691E-5	0.002
18	60563251	A	C	18	62896018	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.7221684911042E-5	0.0
18	60563251	A	G	18	62896018	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.34184528897689E-5	0.004
18	60563251	A	T	18	62896018	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.50957026559876E-4	0.164
18	60563252	T	A	18	62896019	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.61961510010392E-4	0.012
18	60563252	T	C	18	62896019	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.6276220982096E-4	0.024
18	60563252	T	G	18	62896019	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.616925007394E-4	0.018
18	60570185	T	A	18	62902952	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.140567086438025	0.378
18	60570185	T	C	18	62902952	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.56337278023528E-4	0.088
18	60570185	T	G	18	62902952	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.050203731936921	0.362
18	60570186	T	A	18	62902953	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.106330765382023	0.454
18	60570186	T	C	18	62902953	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0101466923200116	0.154
18	60570186	T	G	18	62902953	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.035198357506655	0.276
18	60570187	T	A	18	62902954	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.99997199806427	0.986
18	60570187	T	C	18	62902954	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.01197467552374E-4	0.118
18	60570187	T	G	18	62902954	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00111334354507803	0.12
18	60570188	G	A	18	62902955	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.39160484970485E-4	0.0
18	60570188	G	C	18	62902955	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.66602122352025E-6	0.0
18	60570188	G	T	18	62902955	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.31378247454735E-5	0.0
18	60570189	C	A	18	62902956	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.73289757993952E-4	0.042
18	60570189	C	G	18	62902956	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00501542643554503	0.124
18	60570189	C	T	18	62902956	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.56248335834538E-5	0.002
18	60570190	C	A	18	62902957	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.12318393497454E-4	0.088
18	60570190	C	G	18	62902957	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.44108915559419E-4	0.106
18	60570190	C	T	18	62902957	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.99579792444329E-5	0.004
18	60570191	C	A	18	62902958	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.70471758403331E-4	0.068
18	60570191	C	G	18	62902958	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00506936807997582	0.216
18	60570191	C	T	18	62902958	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.20191745158811E-5	0.0
18	60570192	T	A	18	62902959	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.227106908987393	0.436
18	60570192	T	C	18	62902959	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00266553398797507	0.098
18	60570192	T	G	18	62902959	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0482211338839328	0.312
18	60570193	C	A	18	62902960	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.17340954403284E-5	0.0
18	60570193	C	G	18	62902960	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.124277165097E-4	0.002
18	60570193	C	T	18	62902960	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.17340954403284E-5	0.0
18	60570194	A	C	18	62902961	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.44694598831303E-4	0.118
18	60570194	A	G	18	62902961	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0269812170686429	0.36
18	60570194	A	T	18	62902961	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.88971595903228E-5	0.034
18	60570195	A	C	18	62902962	y	y	splicing	PHLPP1(NM_194449:exon7:c.2445-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.909-2A>C;ENST00000262719:exon7:c.2445-2A>C)	.	.	0.999971317418422	0.888
18	60570195	A	G	18	62902962	y	y	splicing	PHLPP1(NM_194449:exon7:c.2445-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.909-2A>G;ENST00000262719:exon7:c.2445-2A>G)	.	.	0.999971317418422	0.888
18	60570195	A	T	18	62902962	y	y	splicing	PHLPP1(NM_194449:exon7:c.2445-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.909-2A>T;ENST00000262719:exon7:c.2445-2A>T)	.	.	0.999971317418422	0.892
18	60570196	G	A	18	62902963	y	y	splicing	PHLPP1(NM_194449:exon7:c.2445-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.909-1G>A;ENST00000262719:exon7:c.2445-1G>A)	.	.	0.999955279531929	0.936
18	60570196	G	C	18	62902963	y	y	splicing	PHLPP1(NM_194449:exon7:c.2445-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.909-1G>C;ENST00000262719:exon7:c.2445-1G>C)	.	.	0.99996469115006	0.91
18	60570196	G	T	18	62902963	y	y	splicing	PHLPP1(NM_194449:exon7:c.2445-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.909-1G>T;ENST00000262719:exon7:c.2445-1G>T)	.	.	0.999940858364002	0.906
18	60570197	G	A	18	62902964	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon7:c.G2445A:p.R815R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.G2445A:p.R815R;ENSG00000081913:ENST00000400316:exon7:c.G909A:p.R303R;	0.0184576820131646	0.222
18	60570197	G	C	18	62902964	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.G2445C:p.R815S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.G2445C:p.R815S;ENSG00000081913:ENST00000400316:exon7:c.G909C:p.R303S;	0.680950386174847	0.594
18	60570197	G	T	18	62902964	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.G2445T:p.R815S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.G2445T:p.R815S;ENSG00000081913:ENST00000400316:exon7:c.G909T:p.R303S;	0.941948629925434	0.73
18	60570198	T	A	18	62902965	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.T2446A:p.L816M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.T2446A:p.L816M;ENSG00000081913:ENST00000400316:exon7:c.T910A:p.L304M;	0.00372103458438919	0.176
18	60570198	T	C	18	62902965	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon7:c.T2446C:p.L816L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.T2446C:p.L816L;ENSG00000081913:ENST00000400316:exon7:c.T910C:p.L304L;	0.00205811624150989	0.154
18	60570198	T	G	18	62902965	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.T2446G:p.L816V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.T2446G:p.L816V;ENSG00000081913:ENST00000400316:exon7:c.T910G:p.L304V;	0.00691343664348622	0.222
18	60570397	A	C	18	62903164	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.A2645C:p.N882T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.A2645C:p.N882T;ENSG00000081913:ENST00000400316:exon7:c.A1109C:p.N370T;	0.592200212253316	0.54
18	60570397	A	G	18	62903164	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.A2645G:p.N882S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.A2645G:p.N882S;ENSG00000081913:ENST00000400316:exon7:c.A1109G:p.N370S;	0.250182051181504	0.496
18	60570397	A	T	18	62903164	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.A2645T:p.N882I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.A2645T:p.N882I;ENSG00000081913:ENST00000400316:exon7:c.A1109T:p.N370I;	0.928699142774077	0.652
18	60570398	T	A	18	62903165	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.T2646A:p.N882K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.T2646A:p.N882K;ENSG00000081913:ENST00000400316:exon7:c.T1110A:p.N370K;	2.47481339080066E-4	0.338
18	60570398	T	C	18	62903165	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon7:c.T2646C:p.N882N;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.T2646C:p.N882N;ENSG00000081913:ENST00000400316:exon7:c.T1110C:p.N370N;	6.98466419932413E-4	0.046
18	60570398	T	G	18	62903165	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.T2646G:p.N882K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.T2646G:p.N882K;ENSG00000081913:ENST00000400316:exon7:c.T1110G:p.N370K;	0.00130131765331519	0.252
18	60570399	G	A	18	62903166	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.G2647A:p.E883K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.G2647A:p.E883K;ENSG00000081913:ENST00000400316:exon7:c.G1111A:p.E371K;	0.999955655589448	1.0
18	60570399	G	C	18	62903166	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon7:c.G2647C:p.E883Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon7:c.G2647C:p.E883Q;ENSG00000081913:ENST00000400316:exon7:c.G1111C:p.E371Q;	0.999993020836646	0.97
18	60570399	G	T	18	62903166	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon7:c.G2647T:p.E883X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon7:c.G2647T:p.E883X;ENSG00000081913:ENST00000400316:exon7:c.G1111T:p.E371X;	0.999985418789761	1.0
18	60570400	G	A	18	62903167	y	y	splicing	PHLPP1(NM_194449:exon7:c.2647+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.1111+1G>A;ENST00000262719:exon7:c.2647+1G>A;ENST00000591386:exon1:c.17+1G>A)	.	.	0.999985532734767	0.936
18	60570400	G	C	18	62903167	y	y	splicing	PHLPP1(NM_194449:exon7:c.2647+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.1111+1G>C;ENST00000262719:exon7:c.2647+1G>C;ENST00000591386:exon1:c.17+1G>C)	.	.	0.999985532734767	0.936
18	60570400	G	T	18	62903167	y	y	splicing	PHLPP1(NM_194449:exon7:c.2647+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.1111+1G>T;ENST00000262719:exon7:c.2647+1G>T;ENST00000591386:exon1:c.17+1G>T)	.	.	0.999985532734767	0.936
18	60570401	T	A	18	62903168	y	y	splicing	PHLPP1(NM_194449:exon7:c.2647+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.1111+2T>A;ENST00000262719:exon7:c.2647+2T>A;ENST00000591386:exon1:c.17+2T>A)	.	.	0.999988247793601	0.928
18	60570401	T	C	18	62903168	y	y	splicing	PHLPP1(NM_194449:exon7:c.2647+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.1111+2T>C;ENST00000262719:exon7:c.2647+2T>C;ENST00000591386:exon1:c.17+2T>C)	.	.	0.99340600729494	0.67
18	60570401	T	G	18	62903168	y	y	splicing	PHLPP1(NM_194449:exon7:c.2647+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon7:c.1111+2T>G;ENST00000262719:exon7:c.2647+2T>G;ENST00000591386:exon1:c.17+2T>G)	.	.	0.999988247793601	0.928
18	60570402	A	C	18	62903169	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999830745720927	0.928
18	60570402	A	G	18	62903169	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.946869334470945	0.716
18	60570402	A	T	18	62903169	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.991719760784315	0.822
18	60570403	T	A	18	62903170	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.1283960257416E-4	0.06
18	60570403	T	C	18	62903170	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.35199733916587E-4	0.024
18	60570403	T	G	18	62903170	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.12864450492002E-5	0.004
18	60570404	G	A	18	62903171	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999833668419225	0.998
18	60570404	G	C	18	62903171	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999837017204118	0.99
18	60570404	G	T	18	62903171	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999787807194185	0.98
18	60570405	T	A	18	62903172	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.93246018650475	0.644
18	60570405	T	C	18	62903172	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.315390073184652	0.452
18	60570405	T	G	18	62903172	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.831874045431702	0.664
18	60570406	A	C	18	62903173	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.73892773368477E-4	0.002
18	60570406	A	G	18	62903173	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.08001432645626E-4	0.0
18	60570406	A	T	18	62903173	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.49219260656367E-4	0.0
18	60570407	T	A	18	62903174	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.63725957600869E-5	0.0
18	60570407	T	C	18	62903174	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.99776393548351E-5	0.002
18	60570407	T	G	18	62903174	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.03557205259402E-5	0.0
18	60572445	T	A	18	62905212	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.4547013042247E-4	0.052
18	60572445	T	C	18	62905212	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.86812887973092E-5	0.004
18	60572445	T	G	18	62905212	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.52660784775089E-4	0.108
18	60572446	T	A	18	62905213	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.20621436043959E-4	0.148
18	60572446	T	C	18	62905213	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.74710511509649E-4	0.01
18	60572446	T	G	18	62905213	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.83599724976387E-4	0.128
18	60572447	T	A	18	62905214	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.5237496858824E-5	0.044
18	60572447	T	C	18	62905214	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.86733686465805E-5	0.004
18	60572447	T	G	18	62905214	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.87925374482238E-5	0.094
18	60572448	T	A	18	62905215	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.18993711886162E-5	0.018
18	60572448	T	C	18	62905215	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.4147848986659E-5	0.004
18	60572448	T	G	18	62905215	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.92405938497792E-5	0.04
18	60572449	C	A	18	62905216	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.78857392949046E-4	0.018
18	60572449	C	G	18	62905216	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.02494901813096E-4	0.018
18	60572449	C	T	18	62905216	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.29419394544865E-4	0.004
18	60572450	T	A	18	62905217	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.48660118286211E-5	0.008
18	60572450	T	C	18	62905217	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.39947668774815E-5	0.0
18	60572450	T	G	18	62905217	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.68722899360216E-5	0.006
18	60572451	T	A	18	62905218	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0011904044903667	0.12
18	60572451	T	C	18	62905218	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.22273530735031E-4	0.026
18	60572451	T	G	18	62905218	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.53882967494772E-4	0.158
18	60572452	C	A	18	62905219	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.55070567320818E-5	0.004
18	60572452	C	G	18	62905219	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.04497945235461E-5	0.022
18	60572452	C	T	18	62905219	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.39803413570578E-5	0.002
18	60572453	C	A	18	62905220	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.09017659931259E-4	0.0
18	60572453	C	G	18	62905220	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.25821279166545E-4	0.002
18	60572453	C	T	18	62905220	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.09017659931259E-4	0.002
18	60572454	T	A	18	62905221	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00476570169988805	0.198
18	60572454	T	C	18	62905221	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.05611184220737E-5	0.01
18	60572454	T	G	18	62905221	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.984016864622664	0.578
18	60572455	A	C	18	62905222	y	y	splicing	PHLPP1(NM_194449:exon8:c.2648-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1112-2A>C;ENST00000262719:exon8:c.2648-2A>C;ENST00000591386:exon2:c.18-2A>C)	.	.	0.999988247793601	0.93
18	60572455	A	G	18	62905222	y	y	splicing	PHLPP1(NM_194449:exon8:c.2648-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1112-2A>G;ENST00000262719:exon8:c.2648-2A>G;ENST00000591386:exon2:c.18-2A>G)	.	.	0.999988247793601	0.928
18	60572455	A	T	18	62905222	y	y	splicing	PHLPP1(NM_194449:exon8:c.2648-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1112-2A>T;ENST00000262719:exon8:c.2648-2A>T;ENST00000591386:exon2:c.18-2A>T)	.	.	0.999988247793601	0.93
18	60572456	G	A	18	62905223	y	y	splicing	PHLPP1(NM_194449:exon8:c.2648-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1112-1G>A;ENST00000262719:exon8:c.2648-1G>A;ENST00000591386:exon2:c.18-1G>A)	.	.	0.999990361384395	0.938
18	60572456	G	C	18	62905223	y	y	splicing	PHLPP1(NM_194449:exon8:c.2648-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1112-1G>C;ENST00000262719:exon8:c.2648-1G>C;ENST00000591386:exon2:c.18-1G>C)	.	.	0.999990361384395	0.938
18	60572456	G	T	18	62905223	y	y	splicing	PHLPP1(NM_194449:exon8:c.2648-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1112-1G>T;ENST00000262719:exon8:c.2648-1G>T;ENST00000591386:exon2:c.18-1G>T)	.	.	0.999990361384395	0.938
18	60572457	A	C	18	62905224	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.A2648C:p.E883A;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2648C:p.E883A;ENSG00000081913:ENST00000400316:exon8:c.A1112C:p.E371A;	0.686789023120741	0.662
18	60572457	A	G	18	62905224	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.A2648G:p.E883G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2648G:p.E883G;ENSG00000081913:ENST00000400316:exon8:c.A1112G:p.E371G;	0.643663646315892	0.736
18	60572457	A	T	18	62905224	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.A2648T:p.E883V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2648T:p.E883V;ENSG00000081913:ENST00000400316:exon8:c.A1112T:p.E371V;	0.598275862176964	0.578
18	60572458	A	C	18	62905225	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.A2649C:p.E883D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2649C:p.E883D;ENSG00000081913:ENST00000400316:exon8:c.A1113C:p.E371D;	0.917591335677503	0.882
18	60572458	A	G	18	62905225	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon8:c.A2649G:p.E883E;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2649G:p.E883E;ENSG00000081913:ENST00000400316:exon8:c.A1113G:p.E371E;	0.0251786054608745	0.068
18	60572458	A	T	18	62905225	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.A2649T:p.E883D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2649T:p.E883D;ENSG00000081913:ENST00000400316:exon8:c.A1113T:p.E371D;	0.880703844143281	0.806
18	60572515	A	C	18	62905282	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon8:c.A2706C:p.S902S;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2706C:p.S902S;ENSG00000081913:ENST00000400316:exon8:c.A1170C:p.S390S;	2.2003827582649E-4	0.0
18	60572515	A	G	18	62905282	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon8:c.A2706G:p.S902S;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2706G:p.S902S;ENSG00000081913:ENST00000400316:exon8:c.A1170G:p.S390S;	7.91652256700158E-4	0.016
18	60572515	A	T	18	62905282	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon8:c.A2706T:p.S902S;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2706T:p.S902S;ENSG00000081913:ENST00000400316:exon8:c.A1170T:p.S390S;	0.0163914683206707	0.212
18	60572516	A	C	18	62905283	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon8:c.A2707C:p.R903R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2707C:p.R903R;ENSG00000081913:ENST00000400316:exon8:c.A1171C:p.R391R;	0.184860269884657	0.694
18	60572516	A	G	18	62905283	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.A2707G:p.R903G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2707G:p.R903G;ENSG00000081913:ENST00000400316:exon8:c.A1171G:p.R391G;	0.794700836437079	0.702
18	60572516	A	T	18	62905283	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.A2707T:p.R903W;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.A2707T:p.R903W;ENSG00000081913:ENST00000400316:exon8:c.A1171T:p.R391W;	0.509996902566936	0.57
18	60572517	G	A	18	62905284	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.G2708A:p.R903K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.G2708A:p.R903K;ENSG00000081913:ENST00000400316:exon8:c.G1172A:p.R391K;	0.999930023692468	0.996
18	60572517	G	C	18	62905284	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.G2708C:p.R903T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.G2708C:p.R903T;ENSG00000081913:ENST00000400316:exon8:c.G1172C:p.R391T;	0.999981163964768	0.946
18	60572517	G	T	18	62905284	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon8:c.G2708T:p.R903M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon8:c.G2708T:p.R903M;ENSG00000081913:ENST00000400316:exon8:c.G1172T:p.R391M;	0.999951902161162	0.96
18	60572518	G	A	18	62905285	y	y	splicing	PHLPP1(NM_194449:exon8:c.2708+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1172+1G>A;ENST00000262719:exon8:c.2708+1G>A;ENST00000591386:exon2:c.78+1G>A)	.	.	0.999990361384395	0.938
18	60572518	G	C	18	62905285	y	y	splicing	PHLPP1(NM_194449:exon8:c.2708+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1172+1G>C;ENST00000262719:exon8:c.2708+1G>C;ENST00000591386:exon2:c.78+1G>C)	.	.	0.999990361384395	0.938
18	60572518	G	T	18	62905285	y	y	splicing	PHLPP1(NM_194449:exon8:c.2708+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1172+1G>T;ENST00000262719:exon8:c.2708+1G>T;ENST00000591386:exon2:c.78+1G>T)	.	.	0.999990361384395	0.938
18	60572519	T	A	18	62905286	y	y	splicing	PHLPP1(NM_194449:exon8:c.2708+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1172+2T>A;ENST00000262719:exon8:c.2708+2T>A;ENST00000591386:exon2:c.78+2T>A)	.	.	0.999988247793601	0.93
18	60572519	T	C	18	62905286	y	y	splicing	PHLPP1(NM_194449:exon8:c.2708+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1172+2T>C;ENST00000262719:exon8:c.2708+2T>C;ENST00000591386:exon2:c.78+2T>C)	.	.	0.996388929962285	0.708
18	60572519	T	G	18	62905286	y	y	splicing	PHLPP1(NM_194449:exon8:c.2708+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon8:c.1172+2T>G;ENST00000262719:exon8:c.2708+2T>G;ENST00000591386:exon2:c.78+2T>G)	.	.	0.999988247793601	0.93
18	60572520	A	C	18	62905287	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.995796637990186	0.954
18	60572520	A	G	18	62905287	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.834146277636733	0.598
18	60572520	A	T	18	62905287	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.992207888372222	0.908
18	60572521	A	C	18	62905288	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.230921078195632	0.492
18	60572521	A	G	18	62905288	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.742126226908826	0.56
18	60572521	A	T	18	62905288	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.189229404571436	0.472
18	60572522	G	A	18	62905289	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.995198842535463	0.776
18	60572522	G	C	18	62905289	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.950990703217816	0.672
18	60572522	G	T	18	62905289	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.989839040145274	0.644
18	60572523	A	C	18	62905290	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.44178465589372E-4	0.012
18	60572523	A	G	18	62905290	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.22856371644892E-4	0.002
18	60572523	A	T	18	62905290	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.66808985346052E-5	0.004
18	60572524	A	C	18	62905291	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.15838005414123E-4	0.0
18	60572524	A	G	18	62905291	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.15838005414123E-4	0.0
18	60572524	A	T	18	62905291	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.95350677510464E-4	0.002
18	60572525	G	A	18	62905292	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.20280983578417E-5	0.0
18	60572525	G	C	18	62905292	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.30819145506541E-4	0.002
18	60572525	G	T	18	62905292	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.19087666414529E-4	0.0
18	60582134	T	A	18	62914901	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.479833596341669	0.62
18	60582134	T	C	18	62914901	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00175299831649479	0.07
18	60582134	T	G	18	62914901	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.269034459648295	0.494
18	60582135	C	A	18	62914902	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00924173394440877	0.074
18	60582135	C	G	18	62914902	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.84892213616205E-4	0.098
18	60582135	C	T	18	62914902	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.42642944289282E-5	0.0
18	60582136	T	A	18	62914903	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.987296923823526	0.826
18	60582136	T	C	18	62914903	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00235140245726806	0.074
18	60582136	T	G	18	62914903	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.883764504691203	0.63
18	60582137	T	A	18	62914904	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999949870435296	0.95
18	60582137	T	C	18	62914904	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00428152835560099	0.03
18	60582137	T	G	18	62914904	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.740298328812106	0.764
18	60582138	G	A	18	62914905	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.01675113631845E-4	0.002
18	60582138	G	C	18	62914905	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.95278011238195E-5	0.0
18	60582138	G	T	18	62914905	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.48862181784001E-5	0.0
18	60582139	C	A	18	62914906	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.1608026236931E-4	0.03
18	60582139	C	G	18	62914906	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.0095113160637E-4	0.032
18	60582139	C	T	18	62914906	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.0204407654709E-5	0.002
18	60582140	A	C	18	62914907	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.71207576326182E-5	0.0
18	60582140	A	G	18	62914907	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.52247432943819E-5	0.0
18	60582140	A	T	18	62914907	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.95076949036759E-5	0.004
18	60582141	T	A	18	62914908	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.15794458480908	0.498
18	60582141	T	C	18	62914908	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.15529302616477E-4	0.118
18	60582141	T	G	18	62914908	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998597672162485	0.942
18	60582142	T	A	18	62914909	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.3972740055438E-5	0.056
18	60582142	T	C	18	62914909	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.27269856060945E-5	0.0
18	60582142	T	G	18	62914909	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.93076808962973E-4	0.01
18	60582143	T	A	18	62914910	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0295842087642712	0.382
18	60582143	T	C	18	62914910	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.45179714295108E-5	0.014
18	60582143	T	G	18	62914910	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999610896674192	0.786
18	60582144	A	C	18	62914911	y	y	splicing	PHLPP1(NM_194449:exon9:c.2709-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1173-2A>C;ENST00000262719:exon9:c.2709-2A>C;ENST00000591386:exon3:c.79-2A>C)	.	.	0.999988247793601	0.926
18	60582144	A	G	18	62914911	y	y	splicing	PHLPP1(NM_194449:exon9:c.2709-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1173-2A>G;ENST00000262719:exon9:c.2709-2A>G;ENST00000591386:exon3:c.79-2A>G)	.	.	0.999988247793601	0.926
18	60582144	A	T	18	62914911	y	y	splicing	PHLPP1(NM_194449:exon9:c.2709-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1173-2A>T;ENST00000262719:exon9:c.2709-2A>T;ENST00000591386:exon3:c.79-2A>T)	.	.	0.999988247793601	0.926
18	60582145	G	A	18	62914912	y	y	splicing	PHLPP1(NM_194449:exon9:c.2709-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1173-1G>A;ENST00000262719:exon9:c.2709-1G>A;ENST00000591386:exon3:c.79-1G>A)	.	.	0.999985532734767	0.934
18	60582145	G	C	18	62914912	y	y	splicing	PHLPP1(NM_194449:exon9:c.2709-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1173-1G>C;ENST00000262719:exon9:c.2709-1G>C;ENST00000591386:exon3:c.79-1G>C)	.	.	0.999985532734767	0.934
18	60582145	G	T	18	62914912	y	y	splicing	PHLPP1(NM_194449:exon9:c.2709-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1173-1G>T;ENST00000262719:exon9:c.2709-1G>T;ENST00000591386:exon3:c.79-1G>T)	.	.	0.999985532734767	0.934
18	60582146	G	A	18	62914913	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon9:c.G2709A:p.R903R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.G2709A:p.R903R;ENSG00000081913:ENST00000400316:exon9:c.G1173A:p.R391R;	0.0810672255312434	0.274
18	60582146	G	C	18	62914913	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.G2709C:p.R903S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.G2709C:p.R903S;ENSG00000081913:ENST00000400316:exon9:c.G1173C:p.R391S;	0.926164518435331	0.856
18	60582146	G	T	18	62914913	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.G2709T:p.R903S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.G2709T:p.R903S;ENSG00000081913:ENST00000400316:exon9:c.G1173T:p.R391S;	0.990078662702386	0.96
18	60582147	A	C	18	62914914	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.A2710C:p.N904H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.A2710C:p.N904H;ENSG00000081913:ENST00000400316:exon9:c.A1174C:p.N392H;	0.855493290466624	0.882
18	60582147	A	G	18	62914914	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.A2710G:p.N904D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.A2710G:p.N904D;ENSG00000081913:ENST00000400316:exon9:c.A1174G:p.N392D;	0.838443642176595	0.812
18	60582147	A	T	18	62914914	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.A2710T:p.N904Y;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.A2710T:p.N904Y;ENSG00000081913:ENST00000400316:exon9:c.A1174T:p.N392Y;	0.832287156564168	0.8
18	60582239	C	A	18	62915006	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon9:c.C2802A:p.A934A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.C2802A:p.A934A;ENSG00000081913:ENST00000400316:exon9:c.C1266A:p.A422A;	1.58197069431208E-4	0.008
18	60582239	C	G	18	62915006	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon9:c.C2802G:p.A934A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.C2802G:p.A934A;ENSG00000081913:ENST00000400316:exon9:c.C1266G:p.A422A;	2.67475945978737E-4	0.022
18	60582239	C	T	18	62915006	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon9:c.C2802T:p.A934A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.C2802T:p.A934A;ENSG00000081913:ENST00000400316:exon9:c.C1266T:p.A422A;	5.25216158849345E-4	0.142
18	60582240	C	A	18	62915007	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.C2803A:p.R935S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.C2803A:p.R935S;ENSG00000081913:ENST00000400316:exon9:c.C1267A:p.R423S;	0.0279440383691667	0.346
18	60582240	C	G	18	62915007	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.C2803G:p.R935G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.C2803G:p.R935G;ENSG00000081913:ENST00000400316:exon9:c.C1267G:p.R423G;	0.0494641672286933	0.164
18	60582240	C	T	18	62915007	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.C2803T:p.R935C;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.C2803T:p.R935C;ENSG00000081913:ENST00000400316:exon9:c.C1267T:p.R423C;	0.021900433930538	0.226
18	60582241	G	A	18	62915008	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.G2804A:p.R935H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.G2804A:p.R935H;ENSG00000081913:ENST00000400316:exon9:c.G1268A:p.R423H;	0.996748608880974	0.96
18	60582241	G	C	18	62915008	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.G2804C:p.R935P;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.G2804C:p.R935P;ENSG00000081913:ENST00000400316:exon9:c.G1268C:p.R423P;	0.999672710151781	0.968
18	60582241	G	T	18	62915008	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon9:c.G2804T:p.R935L;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon9:c.G2804T:p.R935L;ENSG00000081913:ENST00000400316:exon9:c.G1268T:p.R423L;	0.999354487007923	0.932
18	60582242	G	A	18	62915009	y	y	splicing	PHLPP1(NM_194449:exon9:c.2804+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1268+1G>A;ENST00000262719:exon9:c.2804+1G>A;ENST00000591386:exon3:c.174+1G>A)	.	.	0.999986675681007	0.932
18	60582242	G	C	18	62915009	y	y	splicing	PHLPP1(NM_194449:exon9:c.2804+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1268+1G>C;ENST00000262719:exon9:c.2804+1G>C;ENST00000591386:exon3:c.174+1G>C)	.	.	0.999986675681007	0.932
18	60582242	G	T	18	62915009	y	y	splicing	PHLPP1(NM_194449:exon9:c.2804+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1268+1G>T;ENST00000262719:exon9:c.2804+1G>T;ENST00000591386:exon3:c.174+1G>T)	.	.	0.999986675681007	0.932
18	60582243	T	A	18	62915010	y	y	splicing	PHLPP1(NM_194449:exon9:c.2804+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1268+2T>A;ENST00000262719:exon9:c.2804+2T>A;ENST00000591386:exon3:c.174+2T>A)	.	.	0.999989917668626	0.926
18	60582243	T	C	18	62915010	y	y	splicing	PHLPP1(NM_194449:exon9:c.2804+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1268+2T>C;ENST00000262719:exon9:c.2804+2T>C;ENST00000591386:exon3:c.174+2T>C)	.	.	0.99995132258935	0.856
18	60582243	T	G	18	62915010	y	y	splicing	PHLPP1(NM_194449:exon9:c.2804+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon9:c.1268+2T>G;ENST00000262719:exon9:c.2804+2T>G;ENST00000591386:exon3:c.174+2T>G)	.	.	0.999989917668626	0.926
18	60582244	G	A	18	62915011	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.80248286061925E-5	0.0
18	60582244	G	C	18	62915011	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0185536156701245	0.164
18	60582244	G	T	18	62915011	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0164920316602391	0.26
18	60582245	A	C	18	62915012	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.158064160387016	0.33
18	60582245	A	G	18	62915012	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.587078800325987	0.486
18	60582245	A	T	18	62915012	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.979488353232546	0.562
18	60582246	G	A	18	62915013	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998970990949946	0.938
18	60582246	G	C	18	62915013	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998754106894763	0.934
18	60582246	G	T	18	62915013	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.99963416961373	0.926
18	60582247	T	A	18	62915014	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.246725784876383	0.37
18	60582247	T	C	18	62915014	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.216875276556768	0.5
18	60582247	T	G	18	62915014	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00791849183045514	0.24
18	60582248	A	C	18	62915015	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.76981376371762E-5	0.032
18	60582248	A	G	18	62915015	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.92033234145578E-5	0.034
18	60582248	A	T	18	62915015	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.00153478925131E-4	0.024
18	60582249	T	A	18	62915016	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.08366949536456E-5	0.0
18	60582249	T	C	18	62915016	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.02595150801211E-5	0.0
18	60582249	T	G	18	62915016	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.08366949536456E-5	0.0
18	60587180	C	A	18	62919947	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.30537750947623E-4	0.05
18	60587180	C	G	18	62919947	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.11431151785339E-4	0.014
18	60587180	C	T	18	62919947	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.79314067528515E-5	0.0
18	60587181	T	A	18	62919948	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.0640528612359E-4	0.088
18	60587181	T	C	18	62919948	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.46635835586597E-4	0.006
18	60587181	T	G	18	62919948	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.59709797537572E-5	0.092
18	60587182	T	A	18	62919949	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0308805618045091	0.184
18	60587182	T	C	18	62919949	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.87755148200472E-4	0.006
18	60587182	T	G	18	62919949	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.036587259658611	0.188
18	60587183	T	A	18	62919950	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0189139127258713	0.138
18	60587183	T	C	18	62919950	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.63514505711929E-4	0.002
18	60587183	T	G	18	62919950	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.011540763218819	0.12
18	60587184	T	A	18	62919951	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00283916900408521	0.092
18	60587184	T	C	18	62919951	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.97987614841222E-5	0.0
18	60587184	T	G	18	62919951	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0019417157845336	0.178
18	60587185	T	A	18	62919952	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00154078721984796	0.046
18	60587185	T	C	18	62919952	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.81424717989637E-5	0.0
18	60587185	T	G	18	62919952	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.70053404981323E-4	0.038
18	60587186	A	C	18	62919953	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.4879139878156E-5	0.0
18	60587186	A	G	18	62919953	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.07014835428848E-5	0.0
18	60587186	A	T	18	62919953	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.49914628115587E-5	0.0
18	60587187	T	A	18	62919954	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.22994930270601E-4	0.144
18	60587187	T	C	18	62919954	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.39166522397862E-4	0.012
18	60587187	T	G	18	62919954	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.991522626124639	0.91
18	60587188	A	C	18	62919955	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.80112784240846E-5	0.006
18	60587188	A	G	18	62919955	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.959860896877E-4	0.0
18	60587188	A	T	18	62919955	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.61253992038243E-5	0.0
18	60587189	C	A	18	62919956	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.329846409759338	0.474
18	60587189	C	G	18	62919956	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999862867251194	0.984
18	60587189	C	T	18	62919956	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00399033546705292	0.016
18	60587190	A	C	18	62919957	y	y	splicing	PHLPP1(NM_194449:exon10:c.2805-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1269-2A>C;ENST00000262719:exon10:c.2805-2A>C;ENST00000591386:exon4:c.175-2A>C)	.	.	0.999989917668626	0.926
18	60587190	A	G	18	62919957	y	y	splicing	PHLPP1(NM_194449:exon10:c.2805-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1269-2A>G;ENST00000262719:exon10:c.2805-2A>G;ENST00000591386:exon4:c.175-2A>G)	.	.	0.999989917668626	0.926
18	60587190	A	T	18	62919957	y	y	splicing	PHLPP1(NM_194449:exon10:c.2805-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1269-2A>T;ENST00000262719:exon10:c.2805-2A>T;ENST00000591386:exon4:c.175-2A>T)	.	.	0.999989917668626	0.928
18	60587191	G	A	18	62919958	y	y	splicing	PHLPP1(NM_194449:exon10:c.2805-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1269-1G>A;ENST00000262719:exon10:c.2805-1G>A;ENST00000591386:exon4:c.175-1G>A)	.	.	0.999986675681007	0.934
18	60587191	G	C	18	62919958	y	y	splicing	PHLPP1(NM_194449:exon10:c.2805-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1269-1G>C;ENST00000262719:exon10:c.2805-1G>C;ENST00000591386:exon4:c.175-1G>C)	.	.	0.999986675681007	0.934
18	60587191	G	T	18	62919958	y	y	splicing	PHLPP1(NM_194449:exon10:c.2805-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1269-1G>T;ENST00000262719:exon10:c.2805-1G>T;ENST00000591386:exon4:c.175-1G>T)	.	.	0.999986675681007	0.934
18	60587192	C	A	18	62919959	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon10:c.C2805A:p.R935R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.C2805A:p.R935R;ENSG00000081913:ENST00000400316:exon10:c.C1269A:p.R423R;	1.89883578686707E-4	0.0
18	60587192	C	G	18	62919959	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon10:c.C2805G:p.R935R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.C2805G:p.R935R;ENSG00000081913:ENST00000400316:exon10:c.C1269G:p.R423R;	4.48957717044412E-4	0.11
18	60587192	C	T	18	62919959	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon10:c.C2805T:p.R935R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.C2805T:p.R935R;ENSG00000081913:ENST00000400316:exon10:c.C1269T:p.R423R;	0.0122512665592822	0.09
18	60587193	T	A	18	62919960	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.T2806A:p.L936I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.T2806A:p.L936I;ENSG00000081913:ENST00000400316:exon10:c.T1270A:p.L424I;	0.00357030477916302	0.062
18	60587193	T	C	18	62919960	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon10:c.T2806C:p.L936L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.T2806C:p.L936L;ENSG00000081913:ENST00000400316:exon10:c.T1270C:p.L424L;	5.21164745891791E-4	0.044
18	60587193	T	G	18	62919960	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.T2806G:p.L936V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.T2806G:p.L936V;ENSG00000081913:ENST00000400316:exon10:c.T1270G:p.L424V;	8.97673630525304E-5	0.068
18	60587345	C	A	18	62920112	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.C2958A:p.D986E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.C2958A:p.D986E;ENSG00000081913:ENST00000400316:exon10:c.C1422A:p.D474E;	0.00257192962329281	0.106
18	60587345	C	G	18	62920112	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.C2958G:p.D986E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.C2958G:p.D986E;ENSG00000081913:ENST00000400316:exon10:c.C1422G:p.D474E;	0.00649016788702739	0.226
18	60587345	C	T	18	62920112	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon10:c.C2958T:p.D986D;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.C2958T:p.D986D;ENSG00000081913:ENST00000400316:exon10:c.C1422T:p.D474D;	0.992807257155034	0.906
18	60587346	A	C	18	62920113	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.A2959C:p.S987R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.A2959C:p.S987R;ENSG00000081913:ENST00000400316:exon10:c.A1423C:p.S475R;	0.993459633938155	0.844
18	60587346	A	G	18	62920113	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.A2959G:p.S987G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.A2959G:p.S987G;ENSG00000081913:ENST00000400316:exon10:c.A1423G:p.S475G;	0.999810279281115	0.996
18	60587346	A	T	18	62920113	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.A2959T:p.S987C;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.A2959T:p.S987C;ENSG00000081913:ENST00000400316:exon10:c.A1423T:p.S475C;	0.999766393478699	1.0
18	60587347	G	A	18	62920114	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.G2960A:p.S987N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.G2960A:p.S987N;ENSG00000081913:ENST00000400316:exon10:c.G1424A:p.S475N;	0.999994081925995	1.0
18	60587347	G	C	18	62920114	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.G2960C:p.S987T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.G2960C:p.S987T;ENSG00000081913:ENST00000400316:exon10:c.G1424C:p.S475T;	0.999998312535482	0.998
18	60587347	G	T	18	62920114	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon10:c.G2960T:p.S987I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon10:c.G2960T:p.S987I;ENSG00000081913:ENST00000400316:exon10:c.G1424T:p.S475I;	0.99998851376936	1.0
18	60587348	G	A	18	62920115	y	y	splicing	PHLPP1(NM_194449:exon10:c.2960+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1424+1G>A;ENST00000262719:exon10:c.2960+1G>A;ENST00000591386:exon4:c.330+1G>A)	.	.	0.999986675681007	0.934
18	60587348	G	C	18	62920115	y	y	splicing	PHLPP1(NM_194449:exon10:c.2960+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1424+1G>C;ENST00000262719:exon10:c.2960+1G>C;ENST00000591386:exon4:c.330+1G>C)	.	.	0.999986675681007	0.934
18	60587348	G	T	18	62920115	y	y	splicing	PHLPP1(NM_194449:exon10:c.2960+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1424+1G>T;ENST00000262719:exon10:c.2960+1G>T;ENST00000591386:exon4:c.330+1G>T)	.	.	0.999986675681007	0.934
18	60587349	T	A	18	62920116	y	y	splicing	PHLPP1(NM_194449:exon10:c.2960+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1424+2T>A;ENST00000262719:exon10:c.2960+2T>A;ENST00000591386:exon4:c.330+2T>A)	.	.	0.999988247793601	0.928
18	60587349	T	C	18	62920116	y	y	splicing	PHLPP1(NM_194449:exon10:c.2960+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1424+2T>C;ENST00000262719:exon10:c.2960+2T>C;ENST00000591386:exon4:c.330+2T>C)	.	.	0.994669226766359	0.66
18	60587349	T	G	18	62920116	y	y	splicing	PHLPP1(NM_194449:exon10:c.2960+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon10:c.1424+2T>G;ENST00000262719:exon10:c.2960+2T>G;ENST00000591386:exon4:c.330+2T>G)	.	.	0.999988247793601	0.928
18	60587350	A	C	18	62920117	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999854893242098	0.976
18	60587350	A	G	18	62920117	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.950498271442828	0.838
18	60587350	A	T	18	62920117	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999559101145964	0.954
18	60587351	A	C	18	62920118	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.561036010853836	0.474
18	60587351	A	G	18	62920118	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.843385051298294	0.632
18	60587351	A	T	18	62920118	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.987300725323963	0.744
18	60587352	A	C	18	62920119	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.40941017625848E-4	0.052
18	60587352	A	G	18	62920119	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.21038748294652E-4	0.06
18	60587352	A	T	18	62920119	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00177687387580397	0.08
18	60587353	G	A	18	62920120	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.84682372835862E-4	0.032
18	60587353	G	C	18	62920120	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00178964904568777	0.086
18	60587353	G	T	18	62920120	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.46803186116224E-4	0.02
18	60587354	C	A	18	62920121	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.72921863071145E-5	0.0
18	60587354	C	G	18	62920121	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.54681802488937E-4	0.002
18	60587354	C	T	18	62920121	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.62666516321503E-4	0.024
18	60587355	C	A	18	62920122	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.65855797425768E-5	0.0
18	60587355	C	G	18	62920122	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.65855797425768E-5	0.0
18	60587355	C	T	18	62920122	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.45605582199301E-5	0.0
18	60608939	T	A	18	62941706	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.947093157338652	0.808
18	60608939	T	C	18	62941706	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00355475156424137	0.13
18	60608939	T	G	18	62941706	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.848981157147486	0.556
18	60608940	T	A	18	62941707	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999986995319358	0.984
18	60608940	T	C	18	62941707	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.991113268342042	0.6
18	60608940	T	G	18	62941707	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999894437317449	0.962
18	60608941	G	A	18	62941708	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0385952465912101	0.278
18	60608941	G	C	18	62941708	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0516158039383992	0.25
18	60608941	G	T	18	62941708	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0236469735355248	0.298
18	60608942	T	A	18	62941709	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.929447552823598	0.69
18	60608942	T	C	18	62941709	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00240243196487724	0.118
18	60608942	T	G	18	62941709	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.762933972779195	0.66
18	60608943	C	A	18	62941710	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.451152409728821	0.396
18	60608943	C	G	18	62941710	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.702891330384136	0.398
18	60608943	C	T	18	62941710	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00256511383467727	0.09
18	60608944	A	C	18	62941711	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.08396752943991E-4	0.014
18	60608944	A	G	18	62941711	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.1606262800654E-5	0.0
18	60608944	A	T	18	62941711	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.86810265496172E-5	0.012
18	60608945	T	A	18	62941712	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.231825143617907	0.66
18	60608945	T	C	18	62941712	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.23255399287673E-4	0.07
18	60608945	T	G	18	62941712	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999938934642631	0.986
18	60608946	T	A	18	62941713	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999915188889097	0.988
18	60608946	T	C	18	62941713	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.063169314579762	0.238
18	60608946	T	G	18	62941713	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.958609450975423	0.728
18	60608947	G	A	18	62941714	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.61919227182081E-4	0.022
18	60608947	G	C	18	62941714	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.11486140140741E-4	0.004
18	60608947	G	T	18	62941714	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.72490631061528E-5	0.006
18	60608948	T	A	18	62941715	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.266328774392566	0.398
18	60608948	T	C	18	62941715	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.23757949959983E-5	0.006
18	60608948	T	G	18	62941715	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999110792022252	0.792
18	60608949	A	C	18	62941716	y	y	splicing	PHLPP1(NM_194449:exon11:c.2961-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1425-2A>C;ENST00000262719:exon11:c.2961-2A>C)	.	.	0.999981808176352	0.94
18	60608949	A	G	18	62941716	y	y	splicing	PHLPP1(NM_194449:exon11:c.2961-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1425-2A>G;ENST00000262719:exon11:c.2961-2A>G)	.	.	0.999981808176352	0.94
18	60608949	A	T	18	62941716	y	y	splicing	PHLPP1(NM_194449:exon11:c.2961-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1425-2A>T;ENST00000262719:exon11:c.2961-2A>T)	.	.	0.999981808176352	0.94
18	60608950	G	A	18	62941717	y	y	splicing	PHLPP1(NM_194449:exon11:c.2961-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1425-1G>A;ENST00000262719:exon11:c.2961-1G>A)	.	.	0.999993148181228	0.954
18	60608950	G	C	18	62941717	y	y	splicing	PHLPP1(NM_194449:exon11:c.2961-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1425-1G>C;ENST00000262719:exon11:c.2961-1G>C)	.	.	0.999993148181228	0.954
18	60608950	G	T	18	62941717	y	y	splicing	PHLPP1(NM_194449:exon11:c.2961-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1425-1G>T;ENST00000262719:exon11:c.2961-1G>T)	.	.	0.999993148181228	0.954
18	60608951	C	A	18	62941718	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.C2961A:p.S987R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.C2961A:p.S987R;ENSG00000081913:ENST00000400316:exon11:c.C1425A:p.S475R;	0.00159221135484189	0.05
18	60608951	C	G	18	62941718	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.C2961G:p.S987R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.C2961G:p.S987R;ENSG00000081913:ENST00000400316:exon11:c.C1425G:p.S475R;	0.00179220294060399	0.104
18	60608951	C	T	18	62941718	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon11:c.C2961T:p.S987S;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.C2961T:p.S987S;ENSG00000081913:ENST00000400316:exon11:c.C1425T:p.S475S;	0.78378354870555	0.51
18	60608952	C	A	18	62941719	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.C2962A:p.L988M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.C2962A:p.L988M;ENSG00000081913:ENST00000400316:exon11:c.C1426A:p.L476M;	0.990323703659775	0.852
18	60608952	C	G	18	62941719	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.C2962G:p.L988V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.C2962G:p.L988V;ENSG00000081913:ENST00000400316:exon11:c.C1426G:p.L476V;	0.981872346845499	0.832
18	60608952	C	T	18	62941719	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon11:c.C2962T:p.L988L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.C2962T:p.L988L;ENSG00000081913:ENST00000400316:exon11:c.C1426T:p.L476L;	0.00376502880350531	0.07
18	60609149	A	C	18	62941916	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon11:c.A3159C:p.A1053A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.A3159C:p.A1053A;ENSG00000081913:ENST00000400316:exon11:c.A1623C:p.A541A;	4.70177016253521E-5	0.0
18	60609149	A	G	18	62941916	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon11:c.A3159G:p.A1053A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.A3159G:p.A1053A;ENSG00000081913:ENST00000400316:exon11:c.A1623G:p.A541A;	9.88360915803362E-4	0.022
18	60609149	A	T	18	62941916	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon11:c.A3159T:p.A1053A;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.A3159T:p.A1053A;ENSG00000081913:ENST00000400316:exon11:c.A1623T:p.A541A;	0.0742243728275016	0.388
18	60609150	A	C	18	62941917	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.A3160C:p.S1054R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.A3160C:p.S1054R;ENSG00000081913:ENST00000400316:exon11:c.A1624C:p.S542R;	0.999417993553902	0.978
18	60609150	A	G	18	62941917	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.A3160G:p.S1054G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.A3160G:p.S1054G;ENSG00000081913:ENST00000400316:exon11:c.A1624G:p.S542G;	0.999920861236195	0.984
18	60609150	A	T	18	62941917	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.A3160T:p.S1054C;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.A3160T:p.S1054C;ENSG00000081913:ENST00000400316:exon11:c.A1624T:p.S542C;	0.999895722645349	0.984
18	60609151	G	A	18	62941918	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.G3161A:p.S1054N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.G3161A:p.S1054N;ENSG00000081913:ENST00000400316:exon11:c.G1625A:p.S542N;	0.999994807411868	1.0
18	60609151	G	C	18	62941918	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.G3161C:p.S1054T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.G3161C:p.S1054T;ENSG00000081913:ENST00000400316:exon11:c.G1625C:p.S542T;	0.999998312535482	1.0
18	60609151	G	T	18	62941918	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon11:c.G3161T:p.S1054I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon11:c.G3161T:p.S1054I;ENSG00000081913:ENST00000400316:exon11:c.G1625T:p.S542I;	0.999987199464052	1.0
18	60609152	G	A	18	62941919	y	y	splicing	PHLPP1(NM_194449:exon11:c.3161+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1625+1G>A;ENST00000262719:exon11:c.3161+1G>A)	.	.	0.999986675681007	0.932
18	60609152	G	C	18	62941919	y	y	splicing	PHLPP1(NM_194449:exon11:c.3161+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1625+1G>C;ENST00000262719:exon11:c.3161+1G>C)	.	.	0.999986675681007	0.932
18	60609152	G	T	18	62941919	y	y	splicing	PHLPP1(NM_194449:exon11:c.3161+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1625+1G>T;ENST00000262719:exon11:c.3161+1G>T)	.	.	0.999986675681007	0.932
18	60609153	T	A	18	62941920	y	y	splicing	PHLPP1(NM_194449:exon11:c.3161+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1625+2T>A;ENST00000262719:exon11:c.3161+2T>A)	.	.	0.999988247793601	0.928
18	60609153	T	C	18	62941920	y	y	splicing	PHLPP1(NM_194449:exon11:c.3161+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1625+2T>C;ENST00000262719:exon11:c.3161+2T>C)	.	.	0.994669226766359	0.632
18	60609153	T	G	18	62941920	y	y	splicing	PHLPP1(NM_194449:exon11:c.3161+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon11:c.1625+2T>G;ENST00000262719:exon11:c.3161+2T>G)	.	.	0.999988247793601	0.928
18	60609154	A	C	18	62941921	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999748119618366	0.972
18	60609154	A	G	18	62941921	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.991362106420214	0.728
18	60609154	A	T	18	62941921	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999815758840389	0.942
18	60609155	A	C	18	62941922	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.3007778820728	0.434
18	60609155	A	G	18	62941922	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.513659404466943	0.506
18	60609155	A	T	18	62941922	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.306340082087231	0.38
18	60609156	A	C	18	62941923	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.52379239523039E-4	0.022
18	60609156	A	G	18	62941923	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.11789972934543E-4	0.052
18	60609156	A	T	18	62941923	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.19538649098248E-4	0.03
18	60609157	G	A	18	62941924	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.18231766084409E-4	0.004
18	60609157	G	C	18	62941924	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.80440997242934E-4	0.014
18	60609157	G	T	18	62941924	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.7439659638959E-5	0.0
18	60609158	G	A	18	62941925	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.44312574922614E-5	0.0
18	60609158	G	C	18	62941925	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.44312574922614E-5	0.002
18	60609158	G	T	18	62941925	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.35742528121053E-4	0.002
18	60609159	A	C	18	62941926	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.75029170818947E-5	0.0
18	60609159	A	G	18	62941926	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.10172243913214E-4	0.0
18	60609159	A	T	18	62941926	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.0617073089448E-5	0.0
18	60612330	C	A	18	62945097	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.00959978790069E-5	0.002
18	60612330	C	G	18	62945097	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.64040656886743E-5	0.018
18	60612330	C	T	18	62945097	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.26278840914138E-5	0.0
18	60612331	T	A	18	62945098	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.83413946073379E-4	0.106
18	60612331	T	C	18	62945098	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.10270811192317E-4	0.014
18	60612331	T	G	18	62945098	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.34113006548054E-4	0.064
18	60612332	C	A	18	62945099	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.51073605253918E-5	0.01
18	60612332	C	G	18	62945099	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.9739956794164E-5	0.008
18	60612332	C	T	18	62945099	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.65344868608621E-5	0.004
18	60612333	T	A	18	62945100	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.00264653958877E-4	0.02
18	60612333	T	C	18	62945100	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.90276143248017E-5	0.0
18	60612333	T	G	18	62945100	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.12407713957909E-4	0.032
18	60612334	T	A	18	62945101	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.85146494847308E-5	0.006
18	60612334	T	C	18	62945101	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.32543546840296E-5	0.0
18	60612334	T	G	18	62945101	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.24068282474472E-5	0.026
18	60612335	T	A	18	62945102	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.30493409762124E-4	0.028
18	60612335	T	C	18	62945102	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.24882700826262E-5	0.0
18	60612335	T	G	18	62945102	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.68653988498162E-5	0.03
18	60612336	T	A	18	62945103	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00133659756133122	0.188
18	60612336	T	C	18	62945103	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.3825126229562E-5	0.032
18	60612336	T	G	18	62945103	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00175416008429304	0.21
18	60612337	T	A	18	62945104	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0173926014813679	0.36
18	60612337	T	C	18	62945104	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.011073730265629	0.146
18	60612337	T	G	18	62945104	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0637511145253549	0.372
18	60612338	T	A	18	62945105	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.62269603845454E-5	0.004
18	60612338	T	C	18	62945105	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.62803082344231E-5	0.0
18	60612338	T	G	18	62945105	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.63306392890638E-5	0.016
18	60612339	T	A	18	62945106	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00146865570244876	0.074
18	60612339	T	C	18	62945106	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.29320704545295E-4	0.026
18	60612339	T	G	18	62945106	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.989599268961748	0.604
18	60612340	A	C	18	62945107	y	y	splicing	PHLPP1(NM_194449:exon12:c.3162-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1626-2A>C;ENST00000262719:exon12:c.3162-2A>C;ENST00000591386:exon5:c.331-2A>C)	.	.	0.999988247793601	0.928
18	60612340	A	G	18	62945107	y	y	splicing	PHLPP1(NM_194449:exon12:c.3162-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1626-2A>G;ENST00000262719:exon12:c.3162-2A>G;ENST00000591386:exon5:c.331-2A>G)	.	.	0.999988247793601	0.928
18	60612340	A	T	18	62945107	y	y	splicing	PHLPP1(NM_194449:exon12:c.3162-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1626-2A>T;ENST00000262719:exon12:c.3162-2A>T;ENST00000591386:exon5:c.331-2A>T)	.	.	0.999988247793601	0.928
18	60612341	G	A	18	62945108	y	y	splicing	PHLPP1(NM_194449:exon12:c.3162-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1626-1G>A;ENST00000262719:exon12:c.3162-1G>A;ENST00000591386:exon5:c.331-1G>A)	.	.	0.999985532734767	0.938
18	60612341	G	C	18	62945108	y	y	splicing	PHLPP1(NM_194449:exon12:c.3162-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1626-1G>C;ENST00000262719:exon12:c.3162-1G>C;ENST00000591386:exon5:c.331-1G>C)	.	.	0.999985532734767	0.938
18	60612341	G	T	18	62945108	y	y	splicing	PHLPP1(NM_194449:exon12:c.3162-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1626-1G>T;ENST00000262719:exon12:c.3162-1G>T;ENST00000591386:exon5:c.331-1G>T)	.	.	0.999985532734767	0.938
18	60612342	T	A	18	62945109	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.T3162A:p.S1054R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.T3162A:p.S1054R;ENSG00000081913:ENST00000400316:exon12:c.T1626A:p.S542R;	1.36045877252373E-4	0.206
18	60612342	T	C	18	62945109	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon12:c.T3162C:p.S1054S;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.T3162C:p.S1054S;ENSG00000081913:ENST00000400316:exon12:c.T1626C:p.S542S;	8.8995594949002E-5	0.008
18	60612342	T	G	18	62945109	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.T3162G:p.S1054R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.T3162G:p.S1054R;ENSG00000081913:ENST00000400316:exon12:c.T1626G:p.S542R;	8.30350411105755E-4	0.3
18	60612343	A	C	18	62945110	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.A3163C:p.K1055Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.A3163C:p.K1055Q;ENSG00000081913:ENST00000400316:exon12:c.A1627C:p.K543Q;	0.8363948575432	0.832
18	60612343	A	G	18	62945110	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.A3163G:p.K1055E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.A3163G:p.K1055E;ENSG00000081913:ENST00000400316:exon12:c.A1627G:p.K543E;	0.775036930045719	0.65
18	60612343	A	T	18	62945110	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon12:c.A3163T:p.K1055X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon12:c.A3163T:p.K1055X;ENSG00000081913:ENST00000400316:exon12:c.A1627T:p.K543X;	0.759499106424501	0.84
18	60612502	A	C	18	62945269	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.A3322C:p.K1108Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.A3322C:p.K1108Q;ENSG00000081913:ENST00000400316:exon12:c.A1786C:p.K596Q;	0.024438871129618	0.294
18	60612502	A	G	18	62945269	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.A3322G:p.K1108E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.A3322G:p.K1108E;ENSG00000081913:ENST00000400316:exon12:c.A1786G:p.K596E;	0.282051971512095	0.456
18	60612502	A	T	18	62945269	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon12:c.A3322T:p.K1108X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon12:c.A3322T:p.K1108X;ENSG00000081913:ENST00000400316:exon12:c.A1786T:p.K596X;	0.959455567887732	0.728
18	60612503	A	C	18	62945270	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.A3323C:p.K1108T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.A3323C:p.K1108T;ENSG00000081913:ENST00000400316:exon12:c.A1787C:p.K596T;	0.994256866991464	0.95
18	60612503	A	G	18	62945270	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.A3323G:p.K1108R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.A3323G:p.K1108R;ENSG00000081913:ENST00000400316:exon12:c.A1787G:p.K596R;	0.998668521618715	0.99
18	60612503	A	T	18	62945270	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.A3323T:p.K1108M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.A3323T:p.K1108M;ENSG00000081913:ENST00000400316:exon12:c.A1787T:p.K596M;	0.999413034372242	0.98
18	60612504	G	A	18	62945271	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon12:c.G3324A:p.K1108K;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.G3324A:p.K1108K;ENSG00000081913:ENST00000400316:exon12:c.G1788A:p.K596K;	0.884845464624391	0.666
18	60612504	G	C	18	62945271	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.G3324C:p.K1108N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.G3324C:p.K1108N;ENSG00000081913:ENST00000400316:exon12:c.G1788C:p.K596N;	0.999760038035086	0.956
18	60612504	G	T	18	62945271	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon12:c.G3324T:p.K1108N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon12:c.G3324T:p.K1108N;ENSG00000081913:ENST00000400316:exon12:c.G1788T:p.K596N;	0.999843305190053	0.966
18	60612505	G	A	18	62945272	y	y	splicing	PHLPP1(NM_194449:exon12:c.3324+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1788+1G>A;ENST00000262719:exon12:c.3324+1G>A;ENST00000591386:exon5:c.493+1G>A)	.	.	0.999990361384395	0.938
18	60612505	G	C	18	62945272	y	y	splicing	PHLPP1(NM_194449:exon12:c.3324+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1788+1G>C;ENST00000262719:exon12:c.3324+1G>C;ENST00000591386:exon5:c.493+1G>C)	.	.	0.999990361384395	0.938
18	60612505	G	T	18	62945272	y	y	splicing	PHLPP1(NM_194449:exon12:c.3324+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1788+1G>T;ENST00000262719:exon12:c.3324+1G>T;ENST00000591386:exon5:c.493+1G>T)	.	.	0.999990361384395	0.938
18	60612506	T	A	18	62945273	y	y	splicing	PHLPP1(NM_194449:exon12:c.3324+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1788+2T>A;ENST00000262719:exon12:c.3324+2T>A;ENST00000591386:exon5:c.493+2T>A)	.	.	0.999988247793601	0.93
18	60612506	T	C	18	62945273	y	y	splicing	PHLPP1(NM_194449:exon12:c.3324+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1788+2T>C;ENST00000262719:exon12:c.3324+2T>C;ENST00000591386:exon5:c.493+2T>C)	.	.	0.992783534660112	0.666
18	60612506	T	G	18	62945273	y	y	splicing	PHLPP1(NM_194449:exon12:c.3324+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon12:c.1788+2T>G;ENST00000262719:exon12:c.3324+2T>G;ENST00000591386:exon5:c.493+2T>G)	.	.	0.999988247793601	0.93
18	60612507	A	C	18	62945274	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.761575168759687	0.512
18	60612507	A	G	18	62945274	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0574480713881142	0.412
18	60612507	A	T	18	62945274	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.614397295412744	0.442
18	60612508	T	A	18	62945275	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.65435324347052E-5	0.018
18	60612508	T	C	18	62945275	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.30289961479737E-4	0.034
18	60612508	T	G	18	62945275	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.50747169884718E-5	0.008
18	60612509	G	A	18	62945276	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.882335759949041	0.604
18	60612509	G	C	18	62945276	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.504436137084618	0.63
18	60612509	G	T	18	62945276	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.448100725208787	0.63
18	60612510	T	A	18	62945277	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00933685161496614	0.17
18	60612510	T	C	18	62945277	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00310381453473119	0.198
18	60612510	T	G	18	62945277	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00195080449775125	0.156
18	60612511	G	A	18	62945278	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.72975330146047E-4	0.014
18	60612511	G	C	18	62945278	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.35311964405354E-4	0.004
18	60612511	G	T	18	62945278	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.43189514765741E-4	0.008
18	60612512	G	A	18	62945279	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.68256441675417E-5	0.0
18	60612512	G	C	18	62945279	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.84926268518984E-5	0.0
18	60612512	G	T	18	62945279	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.52913182419846E-5	0.0
18	60625850	T	A	18	62958617	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.20063459285328E-4	0.152
18	60625850	T	C	18	62958617	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.53867898338025E-5	0.024
18	60625850	T	G	18	62958617	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.48554663238739E-4	0.08
18	60625851	T	A	18	62958618	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00172679912620346	0.324
18	60625851	T	C	18	62958618	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.04099456643076E-4	0.058
18	60625851	T	G	18	62958618	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.5989400724704E-4	0.236
18	60625852	C	A	18	62958619	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.02249005119239E-4	0.072
18	60625852	C	G	18	62958619	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.38334807208223E-4	0.082
18	60625852	C	T	18	62958619	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.08777956202058E-5	0.046
18	60625853	T	A	18	62958620	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.75809680827107E-4	0.098
18	60625853	T	C	18	62958620	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.29228050345977E-4	0.024
18	60625853	T	G	18	62958620	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.67583280365724E-4	0.08
18	60625854	T	A	18	62958621	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00211931682898261	0.058
18	60625854	T	C	18	62958621	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.11948563616003E-4	0.0
18	60625854	T	G	18	62958621	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.34738459765013E-4	0.02
18	60625855	T	A	18	62958622	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.99635113340747E-4	0.042
18	60625855	T	C	18	62958622	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.729483887539E-5	0.002
18	60625855	T	G	18	62958622	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.73041650654973E-4	0.048
18	60625856	T	A	18	62958623	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0168234544308674	0.09
18	60625856	T	C	18	62958623	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.23506329390959E-5	0.004
18	60625856	T	G	18	62958623	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0246251286461746	0.102
18	60625857	T	A	18	62958624	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0352871045343728	0.26
18	60625857	T	C	18	62958624	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.04830728071433E-4	0.024
18	60625857	T	G	18	62958624	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0519981702829844	0.332
18	60625858	T	A	18	62958625	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.23125312347084E-4	0.022
18	60625858	T	C	18	62958625	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.24761538527549E-4	0.01
18	60625858	T	G	18	62958625	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.37885910191763E-4	0.008
18	60625859	C	A	18	62958626	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.32452964133367	0.502
18	60625859	C	G	18	62958626	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999895216429984	0.908
18	60625859	C	T	18	62958626	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00569868296446022	0.06
18	60625860	A	C	18	62958627	y	y	splicing	PHLPP1(NM_194449:exon13:c.3325-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1789-2A>C;ENST00000262719:exon13:c.3325-2A>C;ENST00000591386:exon6:c.494-2A>C)	.	.	0.999988247793601	0.932
18	60625860	A	G	18	62958627	y	y	splicing	PHLPP1(NM_194449:exon13:c.3325-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1789-2A>G;ENST00000262719:exon13:c.3325-2A>G;ENST00000591386:exon6:c.494-2A>G)	.	.	0.999988247793601	0.932
18	60625860	A	T	18	62958627	y	y	splicing	PHLPP1(NM_194449:exon13:c.3325-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1789-2A>T;ENST00000262719:exon13:c.3325-2A>T;ENST00000591386:exon6:c.494-2A>T)	.	.	0.999988247793601	0.932
18	60625861	G	A	18	62958628	y	y	splicing	PHLPP1(NM_194449:exon13:c.3325-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1789-1G>A;ENST00000262719:exon13:c.3325-1G>A;ENST00000591386:exon6:c.494-1G>A)	.	.	0.999990361384395	0.938
18	60625861	G	C	18	62958628	y	y	splicing	PHLPP1(NM_194449:exon13:c.3325-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1789-1G>C;ENST00000262719:exon13:c.3325-1G>C;ENST00000591386:exon6:c.494-1G>C)	.	.	0.999990361384395	0.938
18	60625861	G	T	18	62958628	y	y	splicing	PHLPP1(NM_194449:exon13:c.3325-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1789-1G>T;ENST00000262719:exon13:c.3325-1G>T;ENST00000591386:exon6:c.494-1G>T)	.	.	0.999990361384395	0.938
18	60625862	T	A	18	62958629	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.T3325A:p.C1109S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.T3325A:p.C1109S;ENSG00000081913:ENST00000400316:exon13:c.T1789A:p.C597S;	0.735140607834191	0.692
18	60625862	T	C	18	62958629	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.T3325C:p.C1109R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.T3325C:p.C1109R;ENSG00000081913:ENST00000400316:exon13:c.T1789C:p.C597R;	0.927498977443702	0.674
18	60625862	T	G	18	62958629	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.T3325G:p.C1109G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.T3325G:p.C1109G;ENSG00000081913:ENST00000400316:exon13:c.T1789G:p.C597G;	0.81456896523544	0.664
18	60625863	G	A	18	62958630	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.G3326A:p.C1109Y;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.G3326A:p.C1109Y;ENSG00000081913:ENST00000400316:exon13:c.G1790A:p.C597Y;	0.991554604598886	0.728
18	60625863	G	C	18	62958630	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.G3326C:p.C1109S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.G3326C:p.C1109S;ENSG00000081913:ENST00000400316:exon13:c.G1790C:p.C597S;	0.99085945576049	0.776
18	60625863	G	T	18	62958630	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.G3326T:p.C1109F;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.G3326T:p.C1109F;ENSG00000081913:ENST00000400316:exon13:c.G1790T:p.C597F;	0.0086264490048924	0.072
18	60625990	G	A	18	62958757	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon13:c.G3453A:p.L1151L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.G3453A:p.L1151L;ENSG00000081913:ENST00000400316:exon13:c.G1917A:p.L639L;	7.66604211029043E-5	0.0
18	60625990	G	C	18	62958757	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon13:c.G3453C:p.L1151L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.G3453C:p.L1151L;ENSG00000081913:ENST00000400316:exon13:c.G1917C:p.L639L;	3.79750642149666E-5	0.0
18	60625990	G	T	18	62958757	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon13:c.G3453T:p.L1151L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.G3453T:p.L1151L;ENSG00000081913:ENST00000400316:exon13:c.G1917T:p.L639L;	9.8002731780157E-4	0.078
18	60625991	A	C	18	62958758	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.A3454C:p.N1152H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.A3454C:p.N1152H;ENSG00000081913:ENST00000400316:exon13:c.A1918C:p.N640H;	0.995979506065803	0.932
18	60625991	A	G	18	62958758	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.A3454G:p.N1152D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.A3454G:p.N1152D;ENSG00000081913:ENST00000400316:exon13:c.A1918G:p.N640D;	0.996173524696106	0.832
18	60625991	A	T	18	62958758	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.A3454T:p.N1152Y;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.A3454T:p.N1152Y;ENSG00000081913:ENST00000400316:exon13:c.A1918T:p.N640Y;	0.994864190323528	0.848
18	60625992	A	C	18	62958759	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.A3455C:p.N1152T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.A3455C:p.N1152T;ENSG00000081913:ENST00000400316:exon13:c.A1919C:p.N640T;	0.595286935510077	0.75
18	60625992	A	G	18	62958759	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.A3455G:p.N1152S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.A3455G:p.N1152S;ENSG00000081913:ENST00000400316:exon13:c.A1919G:p.N640S;	1.53730157686409E-4	0.072
18	60625992	A	T	18	62958759	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon13:c.A3455T:p.N1152I;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon13:c.A3455T:p.N1152I;ENSG00000081913:ENST00000400316:exon13:c.A1919T:p.N640I;	0.899705471035234	0.696
18	60625993	G	A	18	62958760	y	y	splicing	PHLPP1(NM_194449:exon13:c.3455+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1919+1G>A;ENST00000262719:exon13:c.3455+1G>A)	.	.	0.999990361384395	0.938
18	60625993	G	C	18	62958760	y	y	splicing	PHLPP1(NM_194449:exon13:c.3455+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1919+1G>C;ENST00000262719:exon13:c.3455+1G>C)	.	.	0.999990361384395	0.938
18	60625993	G	T	18	62958760	y	y	splicing	PHLPP1(NM_194449:exon13:c.3455+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1919+1G>T;ENST00000262719:exon13:c.3455+1G>T)	.	.	0.999990361384395	0.938
18	60625994	T	A	18	62958761	y	y	splicing	PHLPP1(NM_194449:exon13:c.3455+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1919+2T>A;ENST00000262719:exon13:c.3455+2T>A)	.	.	0.999988247793601	0.932
18	60625994	T	C	18	62958761	y	y	splicing	PHLPP1(NM_194449:exon13:c.3455+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1919+2T>C;ENST00000262719:exon13:c.3455+2T>C)	.	.	0.994877988051647	0.69
18	60625994	T	G	18	62958761	y	y	splicing	PHLPP1(NM_194449:exon13:c.3455+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon13:c.1919+2T>G;ENST00000262719:exon13:c.3455+2T>G)	.	.	0.999988247793601	0.932
18	60625995	A	C	18	62958762	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.981165186856898	0.566
18	60625995	A	G	18	62958762	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00102447769968813	0.05
18	60625995	A	T	18	62958762	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.752531201373815	0.48
18	60625996	A	C	18	62958763	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.489837600270834	0.416
18	60625996	A	G	18	62958763	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.973809798880245	0.732
18	60625996	A	T	18	62958763	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.731514049964475	0.502
18	60625997	G	A	18	62958764	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999607788371191	0.986
18	60625997	G	C	18	62958764	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999729419724155	0.938
18	60625997	G	T	18	62958764	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999977533629637	0.904
18	60625998	T	A	18	62958765	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.848464531620173	0.58
18	60625998	T	C	18	62958765	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.572038376230379	0.582
18	60625998	T	G	18	62958765	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.41695621693313	0.544
18	60625999	A	C	18	62958766	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.64745399314608E-5	0.0
18	60625999	A	G	18	62958766	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.99196838039782E-5	0.014
18	60625999	A	T	18	62958766	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.33141600191487E-5	0.0
18	60626000	T	A	18	62958767	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.54720808388685E-5	0.0
18	60626000	T	C	18	62958767	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.55533203735188E-5	0.0
18	60626000	T	G	18	62958767	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.55533203735188E-5	0.0
18	60630589	T	A	18	62963356	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.710515314929473	0.516
18	60630589	T	C	18	62963356	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.30905511369443E-5	0.096
18	60630589	T	G	18	62963356	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.519895709529068	0.406
18	60630590	T	A	18	62963357	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999279831164253	0.91
18	60630590	T	C	18	62963357	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.994959933131552	0.674
18	60630590	T	G	18	62963357	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999185275214851	0.902
18	60630591	C	A	18	62963358	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0074847541099381	0.36
18	60630591	C	G	18	62963358	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00220531811907504	0.186
18	60630591	C	T	18	62963358	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.04510964233529E-4	0.34
18	60630592	T	A	18	62963359	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.912817616161228	0.568
18	60630592	T	C	18	62963359	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.19832539980521E-4	0.068
18	60630592	T	G	18	62963359	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.637503275727037	0.466
18	60630593	C	A	18	62963360	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00969704452210533	0.124
18	60630593	C	G	18	62963360	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00421673683033905	0.122
18	60630593	C	T	18	62963360	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.55228074805934E-4	0.008
18	60630594	T	A	18	62963361	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.205533743902216	0.32
18	60630594	T	C	18	62963361	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.26509789536996E-4	0.002
18	60630594	T	G	18	62963361	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.172033388809455	0.282
18	60630595	T	A	18	62963362	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999796128463647	0.874
18	60630595	T	C	18	62963362	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.22806333047561E-5	0.0
18	60630595	T	G	18	62963362	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0239223571122631	0.432
18	60630596	G	A	18	62963363	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.92452710523752E-5	0.022
18	60630596	G	C	18	62963363	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.6286192101848E-4	0.026
18	60630596	G	T	18	62963363	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.06962015563327E-4	0.146
18	60630597	T	A	18	62963364	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.00855052293549E-4	0.004
18	60630597	T	C	18	62963364	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.35211462347234E-5	0.0
18	60630597	T	G	18	62963364	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.00229514136098E-5	0.004
18	60630598	T	A	18	62963365	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0059636530920981	0.272
18	60630598	T	C	18	62963365	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.24776378066633E-5	0.002
18	60630598	T	G	18	62963365	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.892549203064766	0.696
18	60630599	A	C	18	62963366	y	y	splicing	PHLPP1(NM_194449:exon14:c.3456-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.1920-2A>C;ENST00000262719:exon14:c.3456-2A>C)	.	.	0.999933269293341	0.812
18	60630599	A	G	18	62963366	y	y	splicing	PHLPP1(NM_194449:exon14:c.3456-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.1920-2A>G;ENST00000262719:exon14:c.3456-2A>G)	.	.	0.999933269293341	0.812
18	60630599	A	T	18	62963366	y	y	splicing	PHLPP1(NM_194449:exon14:c.3456-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.1920-2A>T;ENST00000262719:exon14:c.3456-2A>T)	.	.	0.999933269293341	0.812
18	60630600	G	A	18	62963367	y	y	splicing	PHLPP1(NM_194449:exon14:c.3456-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.1920-1G>A;ENST00000262719:exon14:c.3456-1G>A)	.	.	0.999981009521345	0.904
18	60630600	G	C	18	62963367	y	y	splicing	PHLPP1(NM_194449:exon14:c.3456-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.1920-1G>C;ENST00000262719:exon14:c.3456-1G>C)	.	.	0.999981009521345	0.904
18	60630600	G	T	18	62963367	y	y	splicing	PHLPP1(NM_194449:exon14:c.3456-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.1920-1G>T;ENST00000262719:exon14:c.3456-1G>T)	.	.	0.999981009521345	0.904
18	60630601	T	A	18	62963368	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.T3456A:p.N1152K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.T3456A:p.N1152K;ENSG00000081913:ENST00000400316:exon14:c.T1920A:p.N640K;	0.00115600655550776	0.226
18	60630601	T	C	18	62963368	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon14:c.T3456C:p.N1152N;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.T3456C:p.N1152N;ENSG00000081913:ENST00000400316:exon14:c.T1920C:p.N640N;	1.46898994162649E-4	0.034
18	60630601	T	G	18	62963368	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.T3456G:p.N1152K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.T3456G:p.N1152K;ENSG00000081913:ENST00000400316:exon14:c.T1920G:p.N640K;	0.00484278422821006	0.29
18	60630602	A	C	18	62963369	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.A3457C:p.N1153H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.A3457C:p.N1153H;ENSG00000081913:ENST00000400316:exon14:c.A1921C:p.N641H;	0.0517466997275813	0.34
18	60630602	A	G	18	62963369	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.A3457G:p.N1153D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.A3457G:p.N1153D;ENSG00000081913:ENST00000400316:exon14:c.A1921G:p.N641D;	0.73089460736596	0.554
18	60630602	A	T	18	62963369	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.A3457T:p.N1153Y;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.A3457T:p.N1153Y;ENSG00000081913:ENST00000400316:exon14:c.A1921T:p.N641Y;	0.784141749422938	0.714
18	60630703	C	A	18	62963470	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.C3558A:p.N1186K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.C3558A:p.N1186K;ENSG00000081913:ENST00000400316:exon14:c.C2022A:p.N674K;	0.0353059499449253	0.318
18	60630703	C	G	18	62963470	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.C3558G:p.N1186K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.C3558G:p.N1186K;ENSG00000081913:ENST00000400316:exon14:c.C2022G:p.N674K;	0.0312476232416343	0.292
18	60630703	C	T	18	62963470	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon14:c.C3558T:p.N1186N;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.C3558T:p.N1186N;ENSG00000081913:ENST00000400316:exon14:c.C2022T:p.N674N;	0.186744156631481	0.346
18	60630704	A	C	18	62963471	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.A3559C:p.K1187Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.A3559C:p.K1187Q;ENSG00000081913:ENST00000400316:exon14:c.A2023C:p.K675Q;	0.990263883870168	0.89
18	60630704	A	G	18	62963471	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.A3559G:p.K1187E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.A3559G:p.K1187E;ENSG00000081913:ENST00000400316:exon14:c.A2023G:p.K675E;	0.990995427651017	0.892
18	60630704	A	T	18	62963471	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon14:c.A3559T:p.K1187X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon14:c.A3559T:p.K1187X;ENSG00000081913:ENST00000400316:exon14:c.A2023T:p.K675X;	0.993384000422043	0.832
18	60630705	A	C	18	62963472	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.A3560C:p.K1187T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.A3560C:p.K1187T;ENSG00000081913:ENST00000400316:exon14:c.A2024C:p.K675T;	0.20747873933313	0.638
18	60630705	A	G	18	62963472	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.A3560G:p.K1187R;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.A3560G:p.K1187R;ENSG00000081913:ENST00000400316:exon14:c.A2024G:p.K675R;	0.261818010050818	0.41
18	60630705	A	T	18	62963472	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon14:c.A3560T:p.K1187M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon14:c.A3560T:p.K1187M;ENSG00000081913:ENST00000400316:exon14:c.A2024T:p.K675M;	0.647550983511098	0.622
18	60630706	G	A	18	62963473	y	y	splicing	PHLPP1(NM_194449:exon14:c.3560+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.2024+1G>A;ENST00000262719:exon14:c.3560+1G>A)	.	.	0.999986675681007	0.934
18	60630706	G	C	18	62963473	y	y	splicing	PHLPP1(NM_194449:exon14:c.3560+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.2024+1G>C;ENST00000262719:exon14:c.3560+1G>C)	.	.	0.999986675681007	0.934
18	60630706	G	T	18	62963473	y	y	splicing	PHLPP1(NM_194449:exon14:c.3560+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.2024+1G>T;ENST00000262719:exon14:c.3560+1G>T)	.	.	0.999986675681007	0.934
18	60630707	T	A	18	62963474	y	y	splicing	PHLPP1(NM_194449:exon14:c.3560+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.2024+2T>A;ENST00000262719:exon14:c.3560+2T>A)	.	.	0.999989917668626	0.928
18	60630707	T	C	18	62963474	y	y	splicing	PHLPP1(NM_194449:exon14:c.3560+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.2024+2T>C;ENST00000262719:exon14:c.3560+2T>C)	.	.	0.991781671885672	0.61
18	60630707	T	G	18	62963474	y	y	splicing	PHLPP1(NM_194449:exon14:c.3560+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon14:c.2024+2T>G;ENST00000262719:exon14:c.3560+2T>G)	.	.	0.999989917668626	0.928
18	60630708	A	C	18	62963475	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998762638723797	0.84
18	60630708	A	G	18	62963475	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00253745384220645	0.08
18	60630708	A	T	18	62963475	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.984975187312406	0.682
18	60630709	A	C	18	62963476	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.402621444308499	0.304
18	60630709	A	G	18	62963476	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.738257629852051	0.55
18	60630709	A	T	18	62963476	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.496762767509534	0.368
18	60630710	G	A	18	62963477	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.993140914057308	0.93
18	60630710	G	C	18	62963477	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.997750650330159	0.876
18	60630710	G	T	18	62963477	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.99686893092042	0.886
18	60630711	T	A	18	62963478	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.191367786924293	0.376
18	60630711	T	C	18	62963478	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.218368520748861	0.542
18	60630711	T	G	18	62963478	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0432770064396355	0.418
18	60630712	C	A	18	62963479	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.94526478252951E-5	0.006
18	60630712	C	G	18	62963479	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.94526478252951E-5	0.006
18	60630712	C	T	18	62963479	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.94526478252951E-5	0.006
18	60630713	A	C	18	62963480	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.53929084429736E-6	0.0
18	60630713	A	G	18	62963480	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.53929084429736E-6	0.0
18	60630713	A	T	18	62963480	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.53929084429736E-6	0.0
18	60639735	G	A	18	62972502	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.18831266036509E-4	0.008
18	60639735	G	C	18	62972502	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.43384888196882E-5	0.002
18	60639735	G	T	18	62972502	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.05504731331557E-5	0.012
18	60639736	T	A	18	62972503	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.812724414999871	0.67
18	60639736	T	C	18	62972503	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0743972921544664	0.274
18	60639736	T	G	18	62972503	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.70061182175657	0.59
18	60639737	T	A	18	62972504	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999722930539585	0.986
18	60639737	T	C	18	62972504	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.51762085635479E-4	0.11
18	60639737	T	G	18	62972504	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0535757498694505	0.422
18	60639738	G	A	18	62972505	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.34409947498739E-4	0.024
18	60639738	G	C	18	62972505	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.2262777958125E-4	0.002
18	60639738	G	T	18	62972505	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.936080896902E-5	0.012
18	60639739	C	A	18	62972506	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00224124651599209	0.106
18	60639739	C	G	18	62972506	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00624223602196907	0.102
18	60639739	C	T	18	62972506	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.24802310295789E-4	0.006
18	60639740	C	A	18	62972507	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0013000012165027	0.032
18	60639740	C	G	18	62972507	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.59036898037733E-4	0.014
18	60639740	C	T	18	62972507	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.57166105121101E-5	0.0
18	60639741	T	A	18	62972508	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.227316981021877	0.364
18	60639741	T	C	18	62972508	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.71909796971358E-5	0.004
18	60639741	T	G	18	62972508	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.672921122308368	0.484
18	60639742	T	A	18	62972509	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999147261325246	0.952
18	60639742	T	C	18	62972509	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0106211066434345	0.128
18	60639742	T	G	18	62972509	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.18906525423504	0.396
18	60639743	G	A	18	62972510	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.25641069882995E-4	0.0
18	60639743	G	C	18	62972510	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.73848621145387E-5	0.024
18	60639743	G	T	18	62972510	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.51848361355207E-4	0.0
18	60639744	C	A	18	62972511	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.847374583594188	0.62
18	60639744	C	G	18	62972511	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999478905981346	0.948
18	60639744	C	T	18	62972511	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00380057260126373	0.052
18	60639745	A	C	18	62972512	y	y	splicing	PHLPP1(NM_194449:exon15:c.3561-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2025-2A>C;ENST00000262719:exon15:c.3561-2A>C)	.	.	0.999988247793601	0.912
18	60639745	A	G	18	62972512	y	y	splicing	PHLPP1(NM_194449:exon15:c.3561-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2025-2A>G;ENST00000262719:exon15:c.3561-2A>G)	.	.	0.999988247793601	0.912
18	60639745	A	T	18	62972512	y	y	splicing	PHLPP1(NM_194449:exon15:c.3561-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2025-2A>T;ENST00000262719:exon15:c.3561-2A>T)	.	.	0.999988247793601	0.914
18	60639746	G	A	18	62972513	y	y	splicing	PHLPP1(NM_194449:exon15:c.3561-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2025-1G>A;ENST00000262719:exon15:c.3561-1G>A)	.	.	0.999985532734767	0.926
18	60639746	G	C	18	62972513	y	y	splicing	PHLPP1(NM_194449:exon15:c.3561-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2025-1G>C;ENST00000262719:exon15:c.3561-1G>C)	.	.	0.999985532734767	0.926
18	60639746	G	T	18	62972513	y	y	splicing	PHLPP1(NM_194449:exon15:c.3561-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2025-1G>T;ENST00000262719:exon15:c.3561-1G>T)	.	.	0.999985532734767	0.926
18	60639747	G	A	18	62972514	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon15:c.G3561A:p.K1187K;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.G3561A:p.K1187K;ENSG00000081913:ENST00000400316:exon15:c.G2025A:p.K675K;	0.0498943007851849	0.292
18	60639747	G	C	18	62972514	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.G3561C:p.K1187N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.G3561C:p.K1187N;ENSG00000081913:ENST00000400316:exon15:c.G2025C:p.K675N;	0.988667578997973	0.756
18	60639747	G	T	18	62972514	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.G3561T:p.K1187N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.G3561T:p.K1187N;ENSG00000081913:ENST00000400316:exon15:c.G2025T:p.K675N;	0.998411061994765	0.896
18	60639748	T	A	18	62972515	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.T3562A:p.L1188M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.T3562A:p.L1188M;ENSG00000081913:ENST00000400316:exon15:c.T2026A:p.L676M;	0.0256906897740822	0.12
18	60639748	T	C	18	62972515	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon15:c.T3562C:p.L1188L;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.T3562C:p.L1188L;ENSG00000081913:ENST00000400316:exon15:c.T2026C:p.L676L;	0.00532495927127871	0.228
18	60639748	T	G	18	62972515	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.T3562G:p.L1188V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.T3562G:p.L1188V;ENSG00000081913:ENST00000400316:exon15:c.T2026G:p.L676V;	0.0141714583384865	0.132
18	60639939	A	C	18	62972706	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.A3753C:p.Q1251H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.A3753C:p.Q1251H;ENSG00000081913:ENST00000400316:exon15:c.A2217C:p.Q739H;	1.30722308107635E-4	0.008
18	60639939	A	G	18	62972706	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon15:c.A3753G:p.Q1251Q;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.A3753G:p.Q1251Q;ENSG00000081913:ENST00000400316:exon15:c.A2217G:p.Q739Q;	3.84945186413807E-4	0.006
18	60639939	A	T	18	62972706	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.A3753T:p.Q1251H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.A3753T:p.Q1251H;ENSG00000081913:ENST00000400316:exon15:c.A2217T:p.Q739H;	0.0685797291242919	0.344
18	60639940	A	C	18	62972707	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon15:c.A3754C:p.R1252R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.A3754C:p.R1252R;ENSG00000081913:ENST00000400316:exon15:c.A2218C:p.R740R;	0.996503124180265	0.95
18	60639940	A	G	18	62972707	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.A3754G:p.R1252G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.A3754G:p.R1252G;ENSG00000081913:ENST00000400316:exon15:c.A2218G:p.R740G;	0.999787719879592	0.984
18	60639940	A	T	18	62972707	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.A3754T:p.R1252W;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.A3754T:p.R1252W;ENSG00000081913:ENST00000400316:exon15:c.A2218T:p.R740W;	0.999777427366233	0.996
18	60639941	G	A	18	62972708	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.G3755A:p.R1252K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.G3755A:p.R1252K;ENSG00000081913:ENST00000400316:exon15:c.G2219A:p.R740K;	0.999994222381975	1.0
18	60639941	G	C	18	62972708	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.G3755C:p.R1252T;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.G3755C:p.R1252T;ENSG00000081913:ENST00000400316:exon15:c.G2219C:p.R740T;	0.999998122414291	1.0
18	60639941	G	T	18	62972708	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon15:c.G3755T:p.R1252M;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon15:c.G3755T:p.R1252M;ENSG00000081913:ENST00000400316:exon15:c.G2219T:p.R740M;	0.999993018555097	1.0
18	60639942	G	A	18	62972709	y	y	splicing	PHLPP1(NM_194449:exon15:c.3755+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2219+1G>A;ENST00000262719:exon15:c.3755+1G>A)	.	.	0.999990361384395	0.938
18	60639942	G	C	18	62972709	y	y	splicing	PHLPP1(NM_194449:exon15:c.3755+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2219+1G>C;ENST00000262719:exon15:c.3755+1G>C)	.	.	0.999990361384395	0.938
18	60639942	G	T	18	62972709	y	y	splicing	PHLPP1(NM_194449:exon15:c.3755+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2219+1G>T;ENST00000262719:exon15:c.3755+1G>T)	.	.	0.999990361384395	0.938
18	60639943	T	A	18	62972710	y	y	splicing	PHLPP1(NM_194449:exon15:c.3755+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2219+2T>A;ENST00000262719:exon15:c.3755+2T>A)	.	.	0.999988247793601	0.93
18	60639943	T	C	18	62972710	y	y	splicing	PHLPP1(NM_194449:exon15:c.3755+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2219+2T>C;ENST00000262719:exon15:c.3755+2T>C)	.	.	0.992577803696025	0.686
18	60639943	T	G	18	62972710	y	y	splicing	PHLPP1(NM_194449:exon15:c.3755+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon15:c.2219+2T>G;ENST00000262719:exon15:c.3755+2T>G)	.	.	0.999988247793601	0.93
18	60639944	A	C	18	62972711	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.997211772256685	0.696
18	60639944	A	G	18	62972711	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.18300356952828	0.466
18	60639944	A	T	18	62972711	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.990536563752107	0.652
18	60639945	A	C	18	62972712	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.0774395735170195	0.314
18	60639945	A	G	18	62972712	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.337532601473744	0.36
18	60639945	A	T	18	62972712	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.336523782498001	0.38
18	60639946	A	C	18	62972713	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.75853208695946E-5	0.016
18	60639946	A	G	18	62972713	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.90658360996614E-5	0.0
18	60639946	A	T	18	62972713	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.56331990993854E-4	0.004
18	60639947	A	C	18	62972714	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.92513524654566E-4	0.022
18	60639947	A	G	18	62972714	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.65594885918494E-5	0.0
18	60639947	A	T	18	62972714	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.84275610127688E-5	0.0
18	60639948	C	A	18	62972715	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.91152915560993E-5	0.0
18	60639948	C	G	18	62972715	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.15730109450448E-4	0.0
18	60639948	C	T	18	62972715	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.81137264493679E-4	0.036
18	60639949	T	A	18	62972716	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.08068143624481E-4	0.0
18	60639949	T	C	18	62972716	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.00787505764898E-5	0.0
18	60639949	T	G	18	62972716	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.59901939456998E-5	0.0
18	60642618	T	A	18	62975385	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.312432486272966	0.644
18	60642618	T	C	18	62975385	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00120161324449393	0.024
18	60642618	T	G	18	62975385	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.290549423543615	0.592
18	60642619	T	A	18	62975386	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.942861033898699	0.666
18	60642619	T	C	18	62975386	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00665491873172916	0.176
18	60642619	T	G	18	62975386	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.832819164640228	0.642
18	60642620	C	A	18	62975387	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998730401137967	0.918
18	60642620	C	G	18	62975387	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00228227320516809	0.032
18	60642620	C	T	18	62975387	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.80656259283147E-5	0.002
18	60642621	G	A	18	62975388	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.964486969417221	0.902
18	60642621	G	C	18	62975388	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.84076161173072E-5	0.006
18	60642621	G	T	18	62975388	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.84076161173072E-5	0.006
18	60642622	G	A	18	62975389	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.23227786770975E-4	0.014
18	60642622	G	C	18	62975389	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.40858346307615E-5	0.006
18	60642622	G	T	18	62975389	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.40858346307615E-5	0.002
18	60642623	A	C	18	62975390	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.84641628592776E-5	0.008
18	60642623	A	G	18	62975390	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.24236979434921E-5	0.0
18	60642623	A	T	18	62975390	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.98802488444428E-5	0.0
18	60642624	T	A	18	62975391	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.891905792362964	0.756
18	60642624	T	C	18	62975391	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.89184289238244E-4	0.028
18	60642624	T	G	18	62975391	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999946534007439	0.976
18	60642625	T	A	18	62975392	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.770380328057599	0.48
18	60642625	T	C	18	62975392	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00144216143609945	0.23
18	60642625	T	G	18	62975392	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.687953672146955	0.456
18	60642626	C	A	18	62975393	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.68021025004043E-4	0.03
18	60642626	C	G	18	62975393	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.52839298313245E-4	0.002
18	60642626	C	T	18	62975393	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	9.75022663190625E-5	0.012
18	60642627	C	A	18	62975394	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.595487360002235	0.408
18	60642627	C	G	18	62975394	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.985137738083735	0.736
18	60642627	C	T	18	62975394	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.56736617832347E-4	0.048
18	60642628	A	C	18	62975395	y	y	splicing	PHLPP1(NM_194449:exon16:c.3756-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2220-2A>C;ENST00000262719:exon16:c.3756-2A>C)	.	.	0.999988247793601	0.932
18	60642628	A	G	18	62975395	y	y	splicing	PHLPP1(NM_194449:exon16:c.3756-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2220-2A>G;ENST00000262719:exon16:c.3756-2A>G)	.	.	0.999988247793601	0.932
18	60642628	A	T	18	62975395	y	y	splicing	PHLPP1(NM_194449:exon16:c.3756-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2220-2A>T;ENST00000262719:exon16:c.3756-2A>T)	.	.	0.999988247793601	0.932
18	60642629	G	A	18	62975396	y	y	splicing	PHLPP1(NM_194449:exon16:c.3756-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2220-1G>A;ENST00000262719:exon16:c.3756-1G>A)	.	.	0.999989072007339	0.928
18	60642629	G	C	18	62975396	y	y	splicing	PHLPP1(NM_194449:exon16:c.3756-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2220-1G>C;ENST00000262719:exon16:c.3756-1G>C)	.	.	0.999989072007339	0.928
18	60642629	G	T	18	62975396	y	y	splicing	PHLPP1(NM_194449:exon16:c.3756-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2220-1G>T;ENST00000262719:exon16:c.3756-1G>T)	.	.	0.999989072007339	0.928
18	60642630	G	A	18	62975397	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon16:c.G3756A:p.R1252R;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.G3756A:p.R1252R;ENSG00000081913:ENST00000400316:exon16:c.G2220A:p.R740R;	0.470861252171989	0.436
18	60642630	G	C	18	62975397	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.G3756C:p.R1252S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.G3756C:p.R1252S;ENSG00000081913:ENST00000400316:exon16:c.G2220C:p.R740S;	0.998951257169119	0.966
18	60642630	G	T	18	62975397	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.G3756T:p.R1252S;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.G3756T:p.R1252S;ENSG00000081913:ENST00000400316:exon16:c.G2220T:p.R740S;	0.99905766038966	0.968
18	60642631	A	C	18	62975398	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.A3757C:p.K1253Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.A3757C:p.K1253Q;ENSG00000081913:ENST00000400316:exon16:c.A2221C:p.K741Q;	0.881562643373772	0.788
18	60642631	A	G	18	62975398	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.A3757G:p.K1253E;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.A3757G:p.K1253E;ENSG00000081913:ENST00000400316:exon16:c.A2221G:p.K741E;	0.898182582367411	0.544
18	60642631	A	T	18	62975398	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon16:c.A3757T:p.K1253X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon16:c.A3757T:p.K1253X;ENSG00000081913:ENST00000400316:exon16:c.A2221T:p.K741X;	0.916516776486384	0.802
18	60642856	G	A	18	62975623	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.G3982A:p.E1328K;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.G3982A:p.E1328K;ENSG00000081913:ENST00000400316:exon16:c.G2446A:p.E816K;	0.934681195616885	0.814
18	60642856	G	C	18	62975623	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.G3982C:p.E1328Q;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.G3982C:p.E1328Q;ENSG00000081913:ENST00000400316:exon16:c.G2446C:p.E816Q;	0.914757502337135	0.754
18	60642856	G	T	18	62975623	y	y	exonic	PHLPP1	stopgain SNV	PHLPP1:NM_194449:exon16:c.G3982T:p.E1328X;	exonic	ENSG00000081913	stopgain SNV	ENSG00000081913:ENST00000262719:exon16:c.G3982T:p.E1328X;ENSG00000081913:ENST00000400316:exon16:c.G2446T:p.E816X;	0.974936882999572	0.884
18	60642857	A	C	18	62975624	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.A3983C:p.E1328A;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.A3983C:p.E1328A;ENSG00000081913:ENST00000400316:exon16:c.A2447C:p.E816A;	0.980142326906064	0.938
18	60642857	A	G	18	62975624	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.A3983G:p.E1328G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.A3983G:p.E1328G;ENSG00000081913:ENST00000400316:exon16:c.A2447G:p.E816G;	0.999421173298012	0.988
18	60642857	A	T	18	62975624	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.A3983T:p.E1328V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.A3983T:p.E1328V;ENSG00000081913:ENST00000400316:exon16:c.A2447T:p.E816V;	0.999403082146874	0.992
18	60642858	G	A	18	62975625	y	y	exonic	PHLPP1	synonymous SNV	PHLPP1:NM_194449:exon16:c.G3984A:p.E1328E;	exonic	ENSG00000081913	synonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.G3984A:p.E1328E;ENSG00000081913:ENST00000400316:exon16:c.G2448A:p.E816E;	0.999803959429981	0.978
18	60642858	G	C	18	62975625	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.G3984C:p.E1328D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.G3984C:p.E1328D;ENSG00000081913:ENST00000400316:exon16:c.G2448C:p.E816D;	0.999996849704514	0.998
18	60642858	G	T	18	62975625	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon16:c.G3984T:p.E1328D;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon16:c.G3984T:p.E1328D;ENSG00000081913:ENST00000400316:exon16:c.G2448T:p.E816D;	0.999973345257003	0.982
18	60642859	G	A	18	62975626	y	y	splicing	PHLPP1(NM_194449:exon16:c.3984+1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2448+1G>A;ENST00000262719:exon16:c.3984+1G>A)	.	.	0.999986675681007	0.928
18	60642859	G	C	18	62975626	y	y	splicing	PHLPP1(NM_194449:exon16:c.3984+1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2448+1G>C;ENST00000262719:exon16:c.3984+1G>C)	.	.	0.999986675681007	0.928
18	60642859	G	T	18	62975626	y	y	splicing	PHLPP1(NM_194449:exon16:c.3984+1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2448+1G>T;ENST00000262719:exon16:c.3984+1G>T)	.	.	0.999986675681007	0.928
18	60642860	T	A	18	62975627	y	y	splicing	PHLPP1(NM_194449:exon16:c.3984+2T>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2448+2T>A;ENST00000262719:exon16:c.3984+2T>A)	.	.	0.999989917668626	0.928
18	60642860	T	C	18	62975627	y	y	splicing	PHLPP1(NM_194449:exon16:c.3984+2T>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2448+2T>C;ENST00000262719:exon16:c.3984+2T>C)	.	.	0.999935529631333	0.868
18	60642860	T	G	18	62975627	y	y	splicing	PHLPP1(NM_194449:exon16:c.3984+2T>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon16:c.2448+2T>G;ENST00000262719:exon16:c.3984+2T>G)	.	.	0.999989917668626	0.928
18	60642861	G	A	18	62975628	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.26274529769817E-4	0.028
18	60642861	G	C	18	62975628	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.803022261044698	0.58
18	60642861	G	T	18	62975628	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.965433637014188	0.612
18	60642862	A	C	18	62975629	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.935741746394469	0.688
18	60642862	A	G	18	62975629	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.97738247549217	0.734
18	60642862	A	T	18	62975629	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.993169280910666	0.602
18	60642863	G	A	18	62975630	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998152242847374	0.862
18	60642863	G	C	18	62975630	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.997407135384775	0.794
18	60642863	G	T	18	62975630	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.998313589741614	0.886
18	60642864	A	C	18	62975631	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.47884530652625E-5	0.004
18	60642864	A	G	18	62975631	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.2310179753582E-6	0.0
18	60642864	A	T	18	62975631	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.71451756104916E-6	0.018
18	60642865	A	C	18	62975632	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.00440110057484E-5	0.0
18	60642865	A	G	18	62975632	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.76481512311495E-5	0.006
18	60642865	A	T	18	62975632	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.56017220246324E-5	0.028
18	60642866	A	C	18	62975633	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.30477579161392E-5	0.0
18	60642866	A	G	18	62975633	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.67105686806938E-5	0.0
18	60642866	A	T	18	62975633	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.73659410988803E-5	0.0
18	60645483	T	A	18	62978250	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	2.60116900668916E-4	0.128
18	60645483	T	C	18	62978250	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.52307884866202E-5	0.008
18	60645483	T	G	18	62978250	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	7.50870494056329E-5	0.09
18	60645484	T	A	18	62978251	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.999684149943009	0.94
18	60645484	T	C	18	62978251	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.17803905584837E-5	0.046
18	60645484	T	G	18	62978251	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00236362102292572	0.222
18	60645485	G	A	18	62978252	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.02019613769183E-4	0.044
18	60645485	G	C	18	62978252	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.32276511644577E-5	0.0
18	60645485	G	T	18	62978252	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.4988360059907E-5	0.0
18	60645486	T	A	18	62978253	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.9382311000983E-4	0.042
18	60645486	T	C	18	62978253	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.19046724243434E-5	0.0
18	60645486	T	G	18	62978253	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	6.10576357942445E-5	0.042
18	60645487	T	A	18	62978254	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.79101416811011E-4	0.206
18	60645487	T	C	18	62978254	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	8.22512193961187E-5	0.012
18	60645487	T	G	18	62978254	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	3.48398368411849E-4	0.128
18	60645488	C	A	18	62978255	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00367210676545198	0.126
18	60645488	C	G	18	62978255	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.6003877712306E-4	0.106
18	60645488	C	T	18	62978255	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.51662649540127E-5	0.016
18	60645489	T	A	18	62978256	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00363651907393519	0.068
18	60645489	T	C	18	62978256	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	5.1675511676889E-5	0.0
18	60645489	T	G	18	62978256	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00864799675157354	0.16
18	60645490	T	A	18	62978257	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.27734845745348	0.352
18	60645490	T	C	18	62978257	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.00790010102589442	0.148
18	60645490	T	G	18	62978257	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.325469873880322	0.352
18	60645491	C	A	18	62978258	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.29303770558127E-4	0.044
18	60645491	C	G	18	62978258	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.90423611663953E-4	0.034
18	60645491	C	T	18	62978258	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	1.67876993588481E-4	0.038
18	60645492	C	A	18	62978259	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.520594079012209	0.508
18	60645492	C	G	18	62978259	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	0.973850425745873	0.896
18	60645492	C	T	18	62978259	y	y	intronic	PHLPP1	.	.	intronic	ENSG00000081913	.	.	4.54082267489764E-4	0.06
18	60645493	A	C	18	62978260	y	y	splicing	PHLPP1(NM_194449:exon17:c.3985-2A>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon17:c.2449-2A>C;ENST00000262719:exon17:c.3985-2A>C)	.	.	0.999989917668626	0.926
18	60645493	A	G	18	62978260	y	y	splicing	PHLPP1(NM_194449:exon17:c.3985-2A>G)	.	.	splicing	ENSG00000081913(ENST00000400316:exon17:c.2449-2A>G;ENST00000262719:exon17:c.3985-2A>G)	.	.	0.999989917668626	0.926
18	60645493	A	T	18	62978260	y	y	splicing	PHLPP1(NM_194449:exon17:c.3985-2A>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon17:c.2449-2A>T;ENST00000262719:exon17:c.3985-2A>T)	.	.	0.999989917668626	0.926
18	60645494	G	A	18	62978261	y	y	splicing	PHLPP1(NM_194449:exon17:c.3985-1G>A)	.	.	splicing	ENSG00000081913(ENST00000400316:exon17:c.2449-1G>A;ENST00000262719:exon17:c.3985-1G>A)	.	.	0.999981760802075	0.932
18	60645494	G	C	18	62978261	y	y	splicing	PHLPP1(NM_194449:exon17:c.3985-1G>C)	.	.	splicing	ENSG00000081913(ENST00000400316:exon17:c.2449-1G>C;ENST00000262719:exon17:c.3985-1G>C)	.	.	0.999981760802075	0.932
18	60645494	G	T	18	62978261	y	y	splicing	PHLPP1(NM_194449:exon17:c.3985-1G>T)	.	.	splicing	ENSG00000081913(ENST00000400316:exon17:c.2449-1G>T;ENST00000262719:exon17:c.3985-1G>T)	.	.	0.999981760802075	0.932
18	60645495	G	A	18	62978262	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon17:c.G3985A:p.D1329N;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon17:c.G3985A:p.D1329N;ENSG00000081913:ENST00000400316:exon17:c.G2449A:p.D817N;	0.998410766520636	0.906
18	60645495	G	C	18	62978262	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon17:c.G3985C:p.D1329H;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon17:c.G3985C:p.D1329H;ENSG00000081913:ENST00000400316:exon17:c.G2449C:p.D817H;	0.999701798144996	0.986
18	60645495	G	T	18	62978262	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon17:c.G3985T:p.D1329Y;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon17:c.G3985T:p.D1329Y;ENSG00000081913:ENST00000400316:exon17:c.G2449T:p.D817Y;	0.999636855038469	0.98
18	60645496	A	C	18	62978263	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon17:c.A3986C:p.D1329A;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon17:c.A3986C:p.D1329A;ENSG00000081913:ENST00000400316:exon17:c.A2450C:p.D817A;	0.775219553952982	0.802
18	60645496	A	G	18	62978263	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon17:c.A3986G:p.D1329G;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon17:c.A3986G:p.D1329G;ENSG00000081913:ENST00000400316:exon17:c.A2450G:p.D817G;	0.66753437466388	0.754
18	60645496	A	T	18	62978263	y	y	exonic	PHLPP1	nonsynonymous SNV	PHLPP1:NM_194449:exon17:c.A3986T:p.D1329V;	exonic	ENSG00000081913	nonsynonymous SNV	ENSG00000081913:ENST00000262719:exon17:c.A3986T:p.D1329V;ENSG00000081913:ENST00000400316:exon17:c.A2450T:p.D817V;	0.711822406399403	0.782
18	60795991	T	A	18	63128758	y	y	exonic	BCL2	nonsynonymous SNV	BCL2:NM_000633:exon3:c.A587T:p.D196V;	exonic	ENSG00000171791	nonsynonymous SNV	ENSG00000171791:ENST00000398117:exon2:c.A587T:p.D196V;ENSG00000171791:ENST00000333681:exon3:c.A587T:p.D196V;	0.00894716119956904	0.034
18	60795991	T	C	18	63128758	y	y	exonic	BCL2	nonsynonymous SNV	BCL2:NM_000633:exon3:c.A587G:p.D196G;	exonic	ENSG00000171791	nonsynonymous SNV	ENSG00000171791:ENST00000398117:exon2:c.A587G:p.D196G;ENSG00000171791:ENST00000333681:exon3:c.A587G:p.D196G;	0.0711843732523583	0.378
18	60795991	T	G	18	63128758	y	y	exonic	BCL2	nonsynonymous SNV	BCL2:NM_000633:exon3:c.A587C:p.D196A;	exonic	ENSG00000171791	nonsynonymous SNV	ENSG00000171791:ENST00000398117:exon2:c.A587C:p.D196A;ENSG00000171791:ENST00000333681:exon3:c.A587C:p.D196A;	0.0513665144278612	0.214
18	60795992	C	A	18	63128759	y	y	exonic	BCL2	nonsynonymous SNV	BCL2:NM_000633:exon3:c.G586T:p.D196Y;	exonic	ENSG00000171791	nonsynonymous SNV	ENSG00000171791:ENST00000398117:exon2:c.G586T:p.D196Y;ENSG00000171791:ENST00000333681:exon3:c.G586T:p.D196Y;	0.999083574994632	0.992
18	60795992	C	G	18	63128759	y	y	exonic	BCL2	nonsynonymous SNV	BCL2:NM_000633:exon3:c.G586C:p.D196H;	exonic	ENSG00000171791	nonsynonymous SNV	ENSG00000171791:ENST00000398117:exon2:c.G586C:p.D196H;ENSG00000171791:ENST00000333681:exon3:c.G586C:p.D196H;	0.998850485506071	0.936
18	60795992	C	T	18	63128759	y	y	exonic	BCL2	nonsynonymous SNV	BCL2:NM_000633:exon3:c.G586A:p.D196N;	exonic	ENSG00000171791	nonsynonymous SNV	ENSG00000171791:ENST00000398117:exon2:c.G586A:p.D196N;ENSG00000171791:ENST00000333681:exon3:c.G586A:p.D196N;	0.999645371202298	0.914
18	60795993	C	A	18	63128760	y	y	splicing	BCL2(NM_000633:exon4:c.586-1G>T)	.	.	splicing	ENSG00000171791(ENST00000398117:exon3:c.586-1G>T;ENST00000333681:exon4:c.586-1G>T)	.	.	0.999981760802075	0.958
18	60795993	C	G	18	63128760	y	y	splicing	BCL2(NM_000633:exon4:c.586-1G>C)	.	.	splicing	ENSG00000171791(ENST00000398117:exon3:c.586-1G>C;ENST00000333681:exon4:c.586-1G>C)	.	.	0.999981760802075	0.958
18	60795993	C	T	18	63128760	y	y	splicing	BCL2(NM_000633:exon4:c.586-1G>A)	.	.	splicing	ENSG00000171791(ENST00000398117:exon3:c.586-1G>A;ENST00000333681:exon4:c.586-1G>A)	.	.	0.999981760802075	0.958
18	60795994	T	A	18	63128761	y	y	splicing	BCL2(NM_000633:exon4:c.586-2A>T)	.	.	splicing	ENSG00000171791(ENST00000398117:exon3:c.586-2A>T;ENST00000333681:exon4:c.586-2A>T)	.	.	0.999989917668626	0.95
18	60795994	T	C	18	63128761	y	y	splicing	BCL2(NM_000633:exon4:c.586-2A>G)	.	.	splicing	ENSG00000171791(ENST00000398117:exon3:c.586-2A>G;ENST00000333681:exon4:c.586-2A>G)	.	.	0.999989917668626	0.95
18	60795994	T	G	18	63128761	y	y	splicing	BCL2(NM_000633:exon4:c.586-2A>C)	.	.	splicing	ENSG00000171791(ENST00000398117:exon3:c.586-2A>C;ENST00000333681:exon4:c.586-2A>C)	.	.	0.999989917668626	0.95
18	60795995	G	A	18	63128762	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.00658344698496455	0.156
18	60795995	G	C	18	63128762	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.998217131698201	0.876
18	60795995	G	T	18	63128762	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.985409662148726	0.846
18	60795996	C	A	18	63128763	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	1.9998563567967E-4	0.004
18	60795996	C	G	18	63128763	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	2.81140534266984E-4	0.086
18	60795996	C	T	18	63128763	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	9.34239817219204E-5	0.024
18	60795997	A	C	18	63128764	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.68458986405571	0.526
18	60795997	A	G	18	63128764	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.00131122586524875	0.058
18	60795997	A	T	18	63128764	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.999899968962979	0.934
18	60795998	G	A	18	63128765	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	6.7784528572188E-5	0.004
18	60795998	G	C	18	63128765	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.999344480755158	0.832
18	60795998	G	T	18	63128765	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	4.10332943029918E-4	0.234
18	60795999	T	A	18	63128766	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	7.5682671984912E-5	0.0
18	60795999	T	C	18	63128766	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.999394810140552	0.912
18	60795999	T	G	18	63128766	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	4.14530226000695E-5	0.01
18	60796000	T	A	18	63128767	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	1.5187181972465E-5	0.03
18	60796000	T	C	18	63128767	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	2.85250602343876E-5	0.022
18	60796000	T	G	18	63128767	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	1.64149210016395E-5	0.014
18	60796001	G	A	18	63128768	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	2.43479862836794E-5	0.0
18	60796001	G	C	18	63128768	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.0137747697639557	0.144
18	60796001	G	T	18	63128768	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.00174978425884191	0.118
18	60796002	G	A	18	63128769	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	3.28326724825578E-4	0.018
18	60796002	G	C	18	63128769	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.0022153549645324	0.09
18	60796002	G	T	18	63128769	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.00454491532231342	0.07
18	60796003	G	A	18	63128770	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	2.95218650442563E-5	0.004
18	60796003	G	C	18	63128770	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	3.44495874485539E-4	0.076
18	60796003	G	T	18	63128770	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.00109993997759181	0.112
18	60796004	G	A	18	63128771	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	1.0549550180229E-4	0.002
18	60796004	G	C	18	63128771	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	3.53861007534591E-4	0.072
18	60796004	G	T	18	63128771	y	y	intronic	BCL2	.	.	intronic	ENSG00000171791	.	.	0.00103347370653265	0.044
18	60986184	T	A	18	63318951	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0138827185055731	0.116
18	60986184	T	C	18	63318951	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0219205277764891	0.054
18	60986184	T	G	18	63318951	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0313348790394196	0.126
18	60986185	G	A	18	63318952	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00838703683986737	0.076
18	60986185	G	C	18	63318952	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	8.14003092741251E-4	0.13
18	60986185	G	T	18	63318952	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	2.65194322303121E-4	0.004
18	60986186	C	A	18	63318953	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999972132855453	0.946
18	60986186	C	G	18	63318953	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999972132855453	0.94
18	60986186	C	T	18	63318953	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999972132855453	0.948
18	60986187	T	A	18	63318954	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.99992617752697	0.93
18	60986187	T	C	18	63318954	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999896524849718	0.89
18	60986187	T	G	18	63318954	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999896524849718	0.888
18	60986188	G	A	18	63318955	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	6.76652733407028E-4	0.032
18	60986188	G	C	18	63318955	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.997136297428968	0.916
18	60986188	G	T	18	63318955	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.361745165143047	0.532
18	60986189	A	C	18	63318956	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	1.48243394692451E-4	0.0
18	60986189	A	G	18	63318956	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	5.16792701101218E-5	0.0
18	60986189	A	T	18	63318956	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	4.70190823942841E-5	0.004
18	60986190	A	C	18	63318957	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.993073198288099	0.762
18	60986190	A	G	18	63318957	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.17534960002191	0.254
18	60986190	A	T	18	63318957	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.986116620040924	0.772
18	60986191	A	C	18	63318958	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.657144598026176	0.58
18	60986191	A	G	18	63318958	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	8.24922732440306E-4	0.022
18	60986191	A	T	18	63318958	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.55291585403452	0.606
18	60986192	G	A	18	63318959	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	8.72884472022611E-5	0.0
18	60986192	G	C	18	63318959	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00558980213663971	0.136
18	60986192	G	T	18	63318959	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00349311420996662	0.08
18	60986193	G	A	18	63318960	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	3.34288409985638E-5	0.0
18	60986193	G	C	18	63318960	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.999869710453549	0.986
18	60986193	G	T	18	63318960	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00239009088130069	0.042
18	60986194	T	A	18	63318961	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	7.4601257691004E-4	0.0
18	60986194	T	C	18	63318961	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.99892361854583	0.95
18	60986194	T	G	18	63318961	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00175769820071958	0.0
18	60986195	T	A	18	63318962	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	6.29046878978048E-5	0.004
18	60986195	T	C	18	63318962	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	1.28195576334396E-4	0.004
18	60986195	T	G	18	63318962	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	1.49542411815291E-4	0.01
18	60986196	A	C	18	63318963	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.258312979784683	0.356
18	60986196	A	G	18	63318963	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00125745296989957	0.142
18	60986196	A	T	18	63318963	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.49552080820973	0.428
18	60986197	A	C	18	63318964	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00481986544215623	0.164
18	60986197	A	G	18	63318964	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	4.49782207325187E-5	0.0
18	60986197	A	T	18	63318964	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00421243737353902	0.178
18	60986399	G	A	18	63319166	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0267275074045045	0.04
18	60986399	G	C	18	63319166	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0172754866124028	0.058
18	60986399	G	T	18	63319166	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0173934650022037	0.06
18	60986400	A	C	18	63319167	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00851976973779713	0.03
18	60986400	A	G	18	63319167	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00851976973779713	0.032
18	60986400	A	T	18	63319167	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0131555811388076	0.034
18	60986401	A	C	18	63319168	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.952302825533126	0.736
18	60986401	A	G	18	63319168	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.921538360720594	0.782
18	60986401	A	T	18	63319168	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.988606926764588	0.78
18	60986402	C	A	18	63319169	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.994675024149866	0.922
18	60986402	C	G	18	63319169	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.995769092444873	0.898
18	60986402	C	T	18	63319169	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.998053849504413	0.98
18	60986403	T	A	18	63319170	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.989259391515563	0.742
18	60986403	T	C	18	63319170	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.991782173962224	0.798
18	60986403	T	G	18	63319170	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.972275150125284	0.688
18	60986404	T	A	18	63319171	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.997799031316436	0.924
18	60986404	T	C	18	63319171	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.614085839630331	0.356
18	60986404	T	G	18	63319171	y	y	intronic	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.999843995026846	0.944
18	60986405	A	C	18	63319172	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999985961189331	0.926
18	60986405	A	G	18	63319172	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.992239731565299	0.628
18	60986405	A	T	18	63319172	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999989917668626	0.926
18	60986406	C	A	18	63319173	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999986675681007	0.934
18	60986406	C	G	18	63319173	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999976137096505	0.936
18	60986406	C	T	18	63319173	y	y	splicing	BCL2	.	.	splicing	ENSG00000171791	.	.	0.999986675681007	0.934
18	60986407	T	A	18	63319174	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0681428098629786	0.376
18	60986407	T	C	18	63319174	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.00108902454238911	0.056
18	60986407	T	G	18	63319174	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0510239917999844	0.25
18	60986408	T	A	18	63319175	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.952262962431011	0.712
18	60986408	T	C	18	63319175	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.896798325462118	0.644
18	60986408	T	G	18	63319175	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.934875095776934	0.684
18	60986409	G	A	18	63319176	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.883453386446745	0.764
18	60986409	G	C	18	63319176	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0273988292152085	0.144
18	60986409	G	T	18	63319176	y	y	UTR5	BCL2	.	.	UTR5	ENSG00000171791	.	.	0.0321971478711716	0.156
18	60999133	A	C	18	63331900	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon10:c.T881G:p.V294G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon6:c.T494G:p.V165G;ENSG00000119537:ENST00000406396:exon10:c.T881G:p.V294G;ENSG00000119537:ENST00000326575:exon9:c.T689G:p.V230G;	7.41586072562478E-4	0.018
18	60999133	A	G	18	63331900	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon10:c.T881C:p.V294A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon6:c.T494C:p.V165A;ENSG00000119537:ENST00000406396:exon10:c.T881C:p.V294A;ENSG00000119537:ENST00000326575:exon9:c.T689C:p.V230A;	2.39372328016603E-4	0.014
18	60999133	A	T	18	63331900	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon10:c.T881A:p.V294E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon6:c.T494A:p.V165E;ENSG00000119537:ENST00000406396:exon10:c.T881A:p.V294E;ENSG00000119537:ENST00000326575:exon9:c.T689A:p.V230E;	0.0018748937161625	0.044
18	60999134	C	A	18	63331901	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon10:c.G880T:p.V294L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon6:c.G493T:p.V165L;ENSG00000119537:ENST00000406396:exon10:c.G880T:p.V294L;ENSG00000119537:ENST00000326575:exon9:c.G688T:p.V230L;	0.646785045960707	0.63
18	60999134	C	G	18	63331901	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon10:c.G880C:p.V294L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon6:c.G493C:p.V165L;ENSG00000119537:ENST00000406396:exon10:c.G880C:p.V294L;ENSG00000119537:ENST00000326575:exon9:c.G688C:p.V230L;	0.270886133295424	0.49
18	60999134	C	T	18	63331901	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon10:c.G880A:p.V294M;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon6:c.G493A:p.V165M;ENSG00000119537:ENST00000406396:exon10:c.G880A:p.V294M;ENSG00000119537:ENST00000326575:exon9:c.G688A:p.V230M;	0.616663230547259	0.358
18	60999135	C	A	18	63331902	y	y	splicing	KDSR(NM_002035:exon11:c.880-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon11:c.880-1G>T;ENST00000591902:exon7:c.493-1G>T;ENST00000326575:exon10:c.688-1G>T)	.	.	0.999975938198618	0.932
18	60999135	C	G	18	63331902	y	y	splicing	KDSR(NM_002035:exon11:c.880-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon11:c.880-1G>C;ENST00000591902:exon7:c.493-1G>C;ENST00000326575:exon10:c.688-1G>C)	.	.	0.99995545544995	0.932
18	60999135	C	T	18	63331902	y	y	splicing	KDSR(NM_002035:exon11:c.880-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon11:c.880-1G>A;ENST00000591902:exon7:c.493-1G>A;ENST00000326575:exon10:c.688-1G>A)	.	.	0.999982737877662	0.932
18	60999136	T	A	18	63331903	y	y	splicing	KDSR(NM_002035:exon11:c.880-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon11:c.880-2A>T;ENST00000591902:exon7:c.493-2A>T;ENST00000326575:exon10:c.688-2A>T)	.	.	0.999825526487965	0.902
18	60999136	T	C	18	63331903	y	y	splicing	KDSR(NM_002035:exon11:c.880-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon11:c.880-2A>G;ENST00000591902:exon7:c.493-2A>G;ENST00000326575:exon10:c.688-2A>G)	.	.	0.999819441469994	0.896
18	60999136	T	G	18	63331903	y	y	splicing	KDSR(NM_002035:exon11:c.880-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon11:c.880-2A>C;ENST00000591902:exon7:c.493-2A>C;ENST00000326575:exon10:c.688-2A>C)	.	.	0.999819441469994	0.9
18	60999137	G	A	18	63331904	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0269656148937967	0.244
18	60999137	G	C	18	63331904	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999358311357543	0.898
18	60999137	G	T	18	63331904	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.432219162994983	0.464
18	60999138	C	A	18	63331905	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.74480241737554E-4	0.0
18	60999138	C	G	18	63331905	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.08333200216718E-5	0.002
18	60999138	C	T	18	63331905	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.9420262153952E-4	0.0
18	60999139	A	C	18	63331906	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00279564385420951	0.166
18	60999139	A	G	18	63331906	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.49808058671235E-5	0.012
18	60999139	A	T	18	63331906	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.994498897700821	0.812
18	60999140	A	C	18	63331907	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.31889238997769E-4	0.114
18	60999140	A	G	18	63331907	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.53857161983725E-5	0.032
18	60999140	A	T	18	63331907	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.708268526878E-4	0.084
18	60999141	G	A	18	63331908	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.38887352776744E-5	0.002
18	60999141	G	C	18	63331908	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.76371810352592E-4	0.024
18	60999141	G	T	18	63331908	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.61170646902055E-4	0.034
18	60999142	A	C	18	63331909	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999138857457938	0.974
18	60999142	A	G	18	63331909	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.68051786851739E-5	0.004
18	60999142	A	T	18	63331909	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.14672881458964E-4	0.066
18	60999143	T	A	18	63331910	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.20734911381244E-5	0.004
18	60999143	T	C	18	63331910	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.42858269379608E-4	0.0
18	60999143	T	G	18	63331910	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.99093242001871E-5	0.0
18	60999144	A	C	18	63331911	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0545564121815669	0.292
18	60999144	A	G	18	63331911	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00287588040633942	0.076
18	60999144	A	T	18	63331911	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.120629847118261	0.364
18	60999145	A	C	18	63331912	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.3793807479907E-5	0.064
18	60999145	A	G	18	63331912	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.20657987027028E-5	0.028
18	60999145	A	T	18	63331912	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.38622336808772E-4	0.05
18	60999146	A	C	18	63331913	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00958190198704865	0.184
18	60999146	A	G	18	63331913	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.07085372629233E-4	0.02
18	60999146	A	T	18	63331913	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0112486517275011	0.212
18	61002482	G	A	18	63335249	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.37042930892933E-4	0.006
18	61002482	G	C	18	63335249	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.06642649222151E-5	0.008
18	61002482	G	T	18	63335249	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.37042930892933E-4	0.006
18	61002483	A	C	18	63335250	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.55591704267905E-5	0.0
18	61002483	A	G	18	63335250	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.55591704267905E-5	0.0
18	61002483	A	T	18	63335250	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.55591704267905E-5	0.0
18	61002484	G	A	18	63335251	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.57312864615908E-5	0.0
18	61002484	G	C	18	63335251	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.53561446523579E-5	0.024
18	61002484	G	T	18	63335251	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.30229581267478E-4	0.002
18	61002485	C	A	18	63335252	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.929452185172866	0.666
18	61002485	C	G	18	63335252	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.941086051901045	0.62
18	61002485	C	T	18	63335252	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.970370424010251	0.584
18	61002486	T	A	18	63335253	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.785271785967131	0.608
18	61002486	T	C	18	63335253	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.503209160162705	0.458
18	61002486	T	G	18	63335253	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.531057793037989	0.56
18	61002487	T	A	18	63335254	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.703548864561842	0.564
18	61002487	T	C	18	63335254	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00161034762238229	0.078
18	61002487	T	G	18	63335254	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.764389335100518	0.604
18	61002488	A	C	18	63335255	y	y	splicing	KDSR(NM_002035:exon10:c.879+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.879+2T>G;ENST00000326575:exon9:c.687+2T>G)	.	.	0.999988247793601	0.93
18	61002488	A	G	18	63335255	y	y	splicing	KDSR(NM_002035:exon10:c.879+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.879+2T>C;ENST00000326575:exon9:c.687+2T>C)	.	.	0.99340600729494	0.672
18	61002488	A	T	18	63335255	y	y	splicing	KDSR(NM_002035:exon10:c.879+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.879+2T>A;ENST00000326575:exon9:c.687+2T>A)	.	.	0.999988247793601	0.93
18	61002489	C	A	18	63335256	y	y	splicing	KDSR(NM_002035:exon10:c.879+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.879+1G>T;ENST00000326575:exon9:c.687+1G>T)	.	.	0.999990361384395	0.938
18	61002489	C	G	18	63335256	y	y	splicing	KDSR(NM_002035:exon10:c.879+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.879+1G>C;ENST00000326575:exon9:c.687+1G>C)	.	.	0.999990361384395	0.938
18	61002489	C	T	18	63335256	y	y	splicing	KDSR(NM_002035:exon10:c.879+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.879+1G>A;ENST00000326575:exon9:c.687+1G>A)	.	.	0.999990361384395	0.938
18	61002490	C	A	18	63335257	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.G879T:p.Q293H;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.G879T:p.Q293H;ENSG00000119537:ENST00000326575:exon8:c.G687T:p.Q229H;	0.99763069690901	0.744
18	61002490	C	G	18	63335257	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.G879C:p.Q293H;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.G879C:p.Q293H;ENSG00000119537:ENST00000326575:exon8:c.G687C:p.Q229H;	0.993517623280036	0.68
18	61002490	C	T	18	63335257	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon9:c.G879A:p.Q293Q;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.G879A:p.Q293Q;ENSG00000119537:ENST00000326575:exon8:c.G687A:p.Q229Q;	0.591230044904208	0.464
18	61002491	T	A	18	63335258	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.A878T:p.Q293L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.A878T:p.Q293L;ENSG00000119537:ENST00000326575:exon8:c.A686T:p.Q229L;	0.986263888420891	0.584
18	61002491	T	C	18	63335258	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.A878G:p.Q293R;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.A878G:p.Q293R;ENSG00000119537:ENST00000326575:exon8:c.A686G:p.Q229R;	0.993960006690905	0.924
18	61002491	T	G	18	63335258	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.A878C:p.Q293P;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.A878C:p.Q293P;ENSG00000119537:ENST00000326575:exon8:c.A686C:p.Q229P;	0.992191560052989	0.848
18	61002492	G	A	18	63335259	y	y	exonic	KDSR	stopgain SNV	KDSR:NM_002035:exon9:c.C877T:p.Q293X;	exonic	ENSG00000119537	stopgain SNV	ENSG00000119537:ENST00000406396:exon9:c.C877T:p.Q293X;ENSG00000119537:ENST00000326575:exon8:c.C685T:p.Q229X;	0.998559238509658	0.764
18	61002492	G	C	18	63335259	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.C877G:p.Q293E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.C877G:p.Q293E;ENSG00000119537:ENST00000326575:exon8:c.C685G:p.Q229E;	0.926736865931242	0.626
18	61002492	G	T	18	63335259	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.C877A:p.Q293K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.C877A:p.Q293K;ENSG00000119537:ENST00000326575:exon8:c.C685A:p.Q229K;	0.973327418457201	0.842
18	61002590	T	A	18	63335357	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.A779T:p.Q260L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.A779T:p.Q260L;ENSG00000119537:ENST00000326575:exon8:c.A587T:p.Q196L;	0.684238273171496	0.734
18	61002590	T	C	18	63335357	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.A779G:p.Q260R;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.A779G:p.Q260R;ENSG00000119537:ENST00000326575:exon8:c.A587G:p.Q196R;	0.204729053442303	0.438
18	61002590	T	G	18	63335357	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.A779C:p.Q260P;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.A779C:p.Q260P;ENSG00000119537:ENST00000326575:exon8:c.A587C:p.Q196P;	0.779740527643729	0.796
18	61002591	G	A	18	63335358	y	y	exonic	KDSR	stopgain SNV	KDSR:NM_002035:exon9:c.C778T:p.Q260X;	exonic	ENSG00000119537	stopgain SNV	ENSG00000119537:ENST00000406396:exon9:c.C778T:p.Q260X;ENSG00000119537:ENST00000326575:exon8:c.C586T:p.Q196X;	0.992987630402715	0.878
18	61002591	G	C	18	63335358	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.C778G:p.Q260E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.C778G:p.Q260E;ENSG00000119537:ENST00000326575:exon8:c.C586G:p.Q196E;	0.972548771826878	0.664
18	61002591	G	T	18	63335358	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon9:c.C778A:p.Q260K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000406396:exon9:c.C778A:p.Q260K;ENSG00000119537:ENST00000326575:exon8:c.C586A:p.Q196K;	0.00752367518201148	0.038
18	61002592	C	A	18	63335359	y	y	splicing	KDSR(NM_002035:exon10:c.778-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.778-1G>T;ENST00000326575:exon9:c.586-1G>T)	.	.	0.999985532734767	0.936
18	61002592	C	G	18	63335359	y	y	splicing	KDSR(NM_002035:exon10:c.778-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.778-1G>C;ENST00000326575:exon9:c.586-1G>C)	.	.	0.999985532734767	0.936
18	61002592	C	T	18	63335359	y	y	splicing	KDSR(NM_002035:exon10:c.778-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.778-1G>A;ENST00000326575:exon9:c.586-1G>A)	.	.	0.999985532734767	0.936
18	61002593	T	A	18	63335360	y	y	splicing	KDSR(NM_002035:exon10:c.778-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.778-2A>T;ENST00000326575:exon9:c.586-2A>T)	.	.	0.999988247793601	0.928
18	61002593	T	C	18	63335360	y	y	splicing	KDSR(NM_002035:exon10:c.778-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.778-2A>G;ENST00000326575:exon9:c.586-2A>G)	.	.	0.999988247793601	0.926
18	61002593	T	G	18	63335360	y	y	splicing	KDSR(NM_002035:exon10:c.778-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon10:c.778-2A>C;ENST00000326575:exon9:c.586-2A>C)	.	.	0.999988247793601	0.926
18	61002594	A	C	18	63335361	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.423540035280972	0.41
18	61002594	A	G	18	63335361	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.07169852801113E-5	0.008
18	61002594	A	T	18	63335361	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00184800856970502	0.066
18	61002595	A	C	18	63335362	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.16274655348056E-4	0.002
18	61002595	A	G	18	63335362	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.23791427967415E-5	0.006
18	61002595	A	T	18	63335362	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.42290619869533E-4	0.012
18	61002596	A	C	18	63335363	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0290325637629786	0.324
18	61002596	A	G	18	63335363	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0082109421688775	0.144
18	61002596	A	T	18	63335363	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0254496818982822	0.318
18	61002597	A	C	18	63335364	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00391280066179374	0.172
18	61002597	A	G	18	63335364	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.78503225464557E-4	0.014
18	61002597	A	T	18	63335364	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00387225222350503	0.14
18	61002598	G	A	18	63335365	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.89927799841374E-5	0.004
18	61002598	G	C	18	63335365	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.53471070799634E-5	0.018
18	61002598	G	T	18	63335365	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.51583578426775E-5	0.014
18	61002599	A	C	18	63335366	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.70407078040632E-4	0.062
18	61002599	A	G	18	63335366	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.82555924799453E-4	0.006
18	61002599	A	T	18	63335366	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.49023309129684E-4	0.052
18	61002600	G	A	18	63335367	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.3916866494283E-5	0.028
18	61002600	G	C	18	63335367	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.07284225079173E-4	0.084
18	61002600	G	T	18	63335367	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.72900771928377E-4	0.068
18	61002601	A	C	18	63335368	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.6129591437661E-4	0.104
18	61002601	A	G	18	63335368	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.15074059558931E-4	0.006
18	61002601	A	T	18	63335368	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.45976608916722E-4	0.138
18	61002602	A	C	18	63335369	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00107842564185405	0.274
18	61002602	A	G	18	63335369	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.27376863933666E-4	0.1
18	61002602	A	T	18	63335369	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00183763276997456	0.232
18	61002603	G	A	18	63335370	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.24700722315973E-5	0.002
18	61002603	G	C	18	63335370	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.75170112961038E-4	0.036
18	61002603	G	T	18	63335370	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.85538584220153E-4	0.02
18	61006025	T	A	18	63338792	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.67095039084353E-5	0.002
18	61006025	T	C	18	63338792	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.01050232682E-5	0.002
18	61006025	T	G	18	63338792	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.67095039084353E-5	0.0
18	61006026	T	A	18	63338793	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.80791670473476E-5	0.0
18	61006026	T	C	18	63338793	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.45016355604485E-5	0.0
18	61006026	T	G	18	63338793	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.24053823771026E-5	0.0
18	61006027	A	C	18	63338794	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.972966059472787	0.724
18	61006027	A	G	18	63338794	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.961678281498103	0.682
18	61006027	A	T	18	63338794	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.979427345175013	0.638
18	61006028	C	A	18	63338795	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999977260438432	0.998
18	61006028	C	G	18	63338795	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999977260438432	0.982
18	61006028	C	T	18	63338795	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999947800268333	0.988
18	61006029	T	A	18	63338796	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.993540023752276	0.794
18	61006029	T	C	18	63338796	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.973541104891642	0.822
18	61006029	T	G	18	63338796	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.986226978087225	0.776
18	61006030	T	A	18	63338797	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.997366778600849	0.764
18	61006030	T	C	18	63338797	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0166990531482622	0.142
18	61006030	T	G	18	63338797	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.998123601242707	0.768
18	61006031	A	C	18	63338798	y	y	splicing	KDSR(NM_002035:exon9:c.777+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.777+2T>G;ENST00000591902:exon6:c.492+2T>G;ENST00000326575:exon8:c.585+2T>G)	.	.	0.999989917668626	0.926
18	61006031	A	G	18	63338798	y	y	splicing	KDSR(NM_002035:exon9:c.777+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.777+2T>C;ENST00000591902:exon6:c.492+2T>C;ENST00000326575:exon8:c.585+2T>C)	.	.	0.988809971481602	0.63
18	61006031	A	T	18	63338798	y	y	splicing	KDSR(NM_002035:exon9:c.777+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.777+2T>A;ENST00000591902:exon6:c.492+2T>A;ENST00000326575:exon8:c.585+2T>A)	.	.	0.999989917668626	0.926
18	61006032	C	A	18	63338799	y	y	splicing	KDSR(NM_002035:exon9:c.777+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.777+1G>T;ENST00000591902:exon6:c.492+1G>T;ENST00000326575:exon8:c.585+1G>T)	.	.	0.999981760802075	0.944
18	61006032	C	G	18	63338799	y	y	splicing	KDSR(NM_002035:exon9:c.777+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.777+1G>C;ENST00000591902:exon6:c.492+1G>C;ENST00000326575:exon8:c.585+1G>C)	.	.	0.999981760802075	0.944
18	61006032	C	T	18	63338799	y	y	splicing	KDSR(NM_002035:exon9:c.777+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.777+1G>A;ENST00000591902:exon6:c.492+1G>A;ENST00000326575:exon8:c.585+1G>A)	.	.	0.999981760802075	0.944
18	61006033	T	A	18	63338800	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon8:c.A777T:p.I259I;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.A492T:p.I164I;ENSG00000119537:ENST00000406396:exon8:c.A777T:p.I259I;ENSG00000119537:ENST00000326575:exon7:c.A585T:p.I195I;	0.007527148420558	0.144
18	61006033	T	C	18	63338800	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.A777G:p.I259M;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.A492G:p.I164M;ENSG00000119537:ENST00000406396:exon8:c.A777G:p.I259M;ENSG00000119537:ENST00000326575:exon7:c.A585G:p.I195M;	0.00620440217512946	0.144
18	61006033	T	G	18	63338800	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon8:c.A777C:p.I259I;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.A492C:p.I164I;ENSG00000119537:ENST00000406396:exon8:c.A777C:p.I259I;ENSG00000119537:ENST00000326575:exon7:c.A585C:p.I195I;	0.00702403989638401	0.126
18	61006034	A	C	18	63338801	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.T776G:p.I259R;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.T491G:p.I164R;ENSG00000119537:ENST00000406396:exon8:c.T776G:p.I259R;ENSG00000119537:ENST00000326575:exon7:c.T584G:p.I195R;	0.715126809277085	0.652
18	61006034	A	G	18	63338801	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.T776C:p.I259T;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.T491C:p.I164T;ENSG00000119537:ENST00000406396:exon8:c.T776C:p.I259T;ENSG00000119537:ENST00000326575:exon7:c.T584C:p.I195T;	0.114627995792989	0.466
18	61006034	A	T	18	63338801	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.T776A:p.I259K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.T491A:p.I164K;ENSG00000119537:ENST00000406396:exon8:c.T776A:p.I259K;ENSG00000119537:ENST00000326575:exon7:c.T584A:p.I195K;	0.546563179374263	0.484
18	61006035	T	A	18	63338802	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.A775T:p.I259L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.A490T:p.I164L;ENSG00000119537:ENST00000406396:exon8:c.A775T:p.I259L;ENSG00000119537:ENST00000326575:exon7:c.A583T:p.I195L;	0.00396188946851793	0.162
18	61006035	T	C	18	63338802	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.A775G:p.I259V;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.A490G:p.I164V;ENSG00000119537:ENST00000406396:exon8:c.A775G:p.I259V;ENSG00000119537:ENST00000326575:exon7:c.A583G:p.I195V;	7.97302704122337E-4	0.018
18	61006035	T	G	18	63338802	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.A775C:p.I259L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.A490C:p.I164L;ENSG00000119537:ENST00000406396:exon8:c.A775C:p.I259L;ENSG00000119537:ENST00000326575:exon7:c.A583C:p.I195L;	5.79736138627611E-5	0.0
18	61006115	G	A	18	63338882	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.C695T:p.P232L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.C410T:p.P137L;ENSG00000119537:ENST00000406396:exon8:c.C695T:p.P232L;ENSG00000119537:ENST00000326575:exon7:c.C503T:p.P168L;	0.971214363606161	0.732
18	61006115	G	C	18	63338882	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.C695G:p.P232R;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.C410G:p.P137R;ENSG00000119537:ENST00000406396:exon8:c.C695G:p.P232R;ENSG00000119537:ENST00000326575:exon7:c.C503G:p.P168R;	0.970956036264249	0.854
18	61006115	G	T	18	63338882	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.C695A:p.P232H;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.C410A:p.P137H;ENSG00000119537:ENST00000406396:exon8:c.C695A:p.P232H;ENSG00000119537:ENST00000326575:exon7:c.C503A:p.P168H;	0.987524646223047	0.904
18	61006116	G	A	18	63338883	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.C694T:p.P232S;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.C409T:p.P137S;ENSG00000119537:ENST00000406396:exon8:c.C694T:p.P232S;ENSG00000119537:ENST00000326575:exon7:c.C502T:p.P168S;	0.995434364779109	0.902
18	61006116	G	C	18	63338883	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.C694G:p.P232A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.C409G:p.P137A;ENSG00000119537:ENST00000406396:exon8:c.C694G:p.P232A;ENSG00000119537:ENST00000326575:exon7:c.C502G:p.P168A;	0.936558196080834	0.656
18	61006116	G	T	18	63338883	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon8:c.C694A:p.P232T;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon5:c.C409A:p.P137T;ENSG00000119537:ENST00000406396:exon8:c.C694A:p.P232T;ENSG00000119537:ENST00000326575:exon7:c.C502A:p.P168T;	0.933113828437768	0.762
18	61006117	C	A	18	63338884	y	y	splicing	KDSR(NM_002035:exon9:c.694-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.694-1G>T;ENST00000591902:exon6:c.409-1G>T;ENST00000326575:exon8:c.502-1G>T)	.	.	0.999985666489905	0.946
18	61006117	C	G	18	63338884	y	y	splicing	KDSR(NM_002035:exon9:c.694-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.694-1G>C;ENST00000591902:exon6:c.409-1G>C;ENST00000326575:exon8:c.502-1G>C)	.	.	0.999985666489905	0.946
18	61006117	C	T	18	63338884	y	y	splicing	KDSR(NM_002035:exon9:c.694-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.694-1G>A;ENST00000591902:exon6:c.409-1G>A;ENST00000326575:exon8:c.502-1G>A)	.	.	0.999985666489905	0.946
18	61006118	T	A	18	63338885	y	y	splicing	KDSR(NM_002035:exon9:c.694-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.694-2A>T;ENST00000591902:exon6:c.409-2A>T;ENST00000326575:exon8:c.502-2A>T)	.	.	0.999992076683048	0.94
18	61006118	T	C	18	63338885	y	y	splicing	KDSR(NM_002035:exon9:c.694-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.694-2A>G;ENST00000591902:exon6:c.409-2A>G;ENST00000326575:exon8:c.502-2A>G)	.	.	0.999992076683048	0.94
18	61006118	T	G	18	63338885	y	y	splicing	KDSR(NM_002035:exon9:c.694-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon9:c.694-2A>C;ENST00000591902:exon6:c.409-2A>C;ENST00000326575:exon8:c.502-2A>C)	.	.	0.999992076683048	0.94
18	61006119	A	C	18	63338886	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.975349957626405	0.644
18	61006119	A	G	18	63338886	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.20197983772831E-4	0.008
18	61006119	A	T	18	63338886	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00914747727562081	0.256
18	61006120	A	C	18	63338887	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00263439754228748	0.216
18	61006120	A	G	18	63338887	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.15770386036991E-4	0.146
18	61006120	A	T	18	63338887	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.89758733848926E-5	0.002
18	61006121	A	C	18	63338888	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.612135095993238	0.614
18	61006121	A	G	18	63338888	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0161111039416013	0.216
18	61006121	A	T	18	63338888	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.771307623271863	0.62
18	61006122	A	C	18	63338889	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0026195638556726	0.162
18	61006122	A	G	18	63338889	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.14847431969899E-4	0.016
18	61006122	A	T	18	63338889	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00350035139579035	0.164
18	61006123	G	A	18	63338890	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.32935289279046E-5	0.004
18	61006123	G	C	18	63338890	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999851620880925	0.976
18	61006123	G	T	18	63338890	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00213172813891311	0.058
18	61006124	T	A	18	63338891	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.98622633818858E-4	0.02
18	61006124	T	C	18	63338891	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00649974022510695	0.024
18	61006124	T	G	18	63338891	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00266382352398521	0.036
18	61006125	G	A	18	63338892	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.48937286407881E-4	0.002
18	61006125	G	C	18	63338892	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00332719875643104	0.12
18	61006125	G	T	18	63338892	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0015818629792896	0.072
18	61006126	G	A	18	63338893	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.57464950734703E-5	0.002
18	61006126	G	C	18	63338893	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.6256061836363E-4	0.168
18	61006126	G	T	18	63338893	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00161283710964614	0.154
18	61006127	A	C	18	63338894	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00166535666439871	0.258
18	61006127	A	G	18	63338894	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.92655916058612E-4	0.17
18	61006127	A	T	18	63338894	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00444315415042051	0.36
18	61006128	A	C	18	63338895	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00127314746136604	0.152
18	61006128	A	G	18	63338895	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.2155326172418E-4	0.104
18	61006128	A	T	18	63338895	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00280348678561559	0.216
18	61011635	A	C	18	63344402	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.0030960233099E-4	0.002
18	61011635	A	G	18	63344402	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.0339478167547E-5	0.0
18	61011635	A	T	18	63344402	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.93579658256913E-5	0.004
18	61011636	T	A	18	63344403	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.67268676216881E-4	0.018
18	61011636	T	C	18	63344403	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.54572729762643E-4	0.002
18	61011636	T	G	18	63344403	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.76416454979694E-5	0.004
18	61011637	A	C	18	63344404	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0431162025579434	0.34
18	61011637	A	G	18	63344404	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.12724289115767	0.346
18	61011637	A	T	18	63344404	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.141021188353134	0.326
18	61011638	C	A	18	63344405	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.99785517083447	0.838
18	61011638	C	G	18	63344405	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.996538495561741	0.822
18	61011638	C	T	18	63344405	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.997059932686447	0.934
18	61011639	T	A	18	63344406	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.875555807435609	0.698
18	61011639	T	C	18	63344406	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.820779312268552	0.582
18	61011639	T	G	18	63344406	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.870740028090299	0.588
18	61011640	G	A	18	63344407	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.06045526387887E-4	0.01
18	61011640	G	C	18	63344407	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.81951194010519E-4	0.056
18	61011640	G	T	18	63344407	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.41284018398523E-4	0.086
18	61011641	A	C	18	63344408	y	y	splicing	KDSR(NM_002035:exon8:c.693+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.693+2T>G;ENST00000591902:exon5:c.408+2T>G;ENST00000326575:exon7:c.501+2T>G)	.	.	0.999988247793601	0.928
18	61011641	A	G	18	63344408	y	y	splicing	KDSR(NM_002035:exon8:c.693+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.693+2T>C;ENST00000591902:exon5:c.408+2T>C;ENST00000326575:exon7:c.501+2T>C)	.	.	0.99340600729494	0.68
18	61011641	A	T	18	63344408	y	y	splicing	KDSR(NM_002035:exon8:c.693+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.693+2T>A;ENST00000591902:exon5:c.408+2T>A;ENST00000326575:exon7:c.501+2T>A)	.	.	0.999988247793601	0.928
18	61011642	C	A	18	63344409	y	y	splicing	KDSR(NM_002035:exon8:c.693+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.693+1G>T;ENST00000591902:exon5:c.408+1G>T;ENST00000326575:exon7:c.501+1G>T)	.	.	0.999985532734767	0.936
18	61011642	C	G	18	63344409	y	y	splicing	KDSR(NM_002035:exon8:c.693+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.693+1G>C;ENST00000591902:exon5:c.408+1G>C;ENST00000326575:exon7:c.501+1G>C)	.	.	0.999985532734767	0.936
18	61011642	C	T	18	63344409	y	y	splicing	KDSR(NM_002035:exon8:c.693+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.693+1G>A;ENST00000591902:exon5:c.408+1G>A;ENST00000326575:exon7:c.501+1G>A)	.	.	0.999985532734767	0.936
18	61011643	C	A	18	63344410	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.G693T:p.K231N;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.G408T:p.K136N;ENSG00000119537:ENST00000406396:exon7:c.G693T:p.K231N;ENSG00000119537:ENST00000326575:exon6:c.G501T:p.K167N;	0.999980437970699	1.0
18	61011643	C	G	18	63344410	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.G693C:p.K231N;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.G408C:p.K136N;ENSG00000119537:ENST00000406396:exon7:c.G693C:p.K231N;ENSG00000119537:ENST00000326575:exon6:c.G501C:p.K167N;	0.999978107973274	0.996
18	61011643	C	T	18	63344410	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon7:c.G693A:p.K231K;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.G408A:p.K136K;ENSG00000119537:ENST00000406396:exon7:c.G693A:p.K231K;ENSG00000119537:ENST00000326575:exon6:c.G501A:p.K167K;	0.999919057836401	0.998
18	61011644	T	A	18	63344411	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.A692T:p.K231M;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.A407T:p.K136M;ENSG00000119537:ENST00000406396:exon7:c.A692T:p.K231M;ENSG00000119537:ENST00000326575:exon6:c.A500T:p.K167M;	0.999486743564658	0.978
18	61011644	T	C	18	63344411	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.A692G:p.K231R;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.A407G:p.K136R;ENSG00000119537:ENST00000406396:exon7:c.A692G:p.K231R;ENSG00000119537:ENST00000326575:exon6:c.A500G:p.K167R;	0.999521205457595	0.962
18	61011644	T	G	18	63344411	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.A692C:p.K231T;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.A407C:p.K136T;ENSG00000119537:ENST00000406396:exon7:c.A692C:p.K231T;ENSG00000119537:ENST00000326575:exon6:c.A500C:p.K167T;	0.989414741033378	0.892
18	61011645	T	A	18	63344412	y	y	exonic	KDSR	stopgain SNV	KDSR:NM_002035:exon7:c.A691T:p.K231X;	exonic	ENSG00000119537	stopgain SNV	ENSG00000119537:ENST00000591902:exon4:c.A406T:p.K136X;ENSG00000119537:ENST00000406396:exon7:c.A691T:p.K231X;ENSG00000119537:ENST00000326575:exon6:c.A499T:p.K167X;	0.966154538794739	0.72
18	61011645	T	C	18	63344412	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.A691G:p.K231E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.A406G:p.K136E;ENSG00000119537:ENST00000406396:exon7:c.A691G:p.K231E;ENSG00000119537:ENST00000326575:exon6:c.A499G:p.K167E;	0.302146731634274	0.582
18	61011645	T	G	18	63344412	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.A691C:p.K231Q;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.A406C:p.K136Q;ENSG00000119537:ENST00000406396:exon7:c.A691C:p.K231Q;ENSG00000119537:ENST00000326575:exon6:c.A499C:p.K167Q;	0.652856573071822	0.704
18	61011725	A	C	18	63344492	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.T611G:p.V204G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.T326G:p.V109G;ENSG00000119537:ENST00000406396:exon7:c.T611G:p.V204G;ENSG00000119537:ENST00000326575:exon6:c.T419G:p.V140G;	0.0263243848117254	0.256
18	61011725	A	G	18	63344492	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.T611C:p.V204A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.T326C:p.V109A;ENSG00000119537:ENST00000406396:exon7:c.T611C:p.V204A;ENSG00000119537:ENST00000326575:exon6:c.T419C:p.V140A;	0.0108350216317676	0.204
18	61011725	A	T	18	63344492	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.T611A:p.V204E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.T326A:p.V109E;ENSG00000119537:ENST00000406396:exon7:c.T611A:p.V204E;ENSG00000119537:ENST00000326575:exon6:c.T419A:p.V140E;	0.00974853061713173	0.176
18	61011726	C	A	18	63344493	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.G610T:p.V204L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.G325T:p.V109L;ENSG00000119537:ENST00000406396:exon7:c.G610T:p.V204L;ENSG00000119537:ENST00000326575:exon6:c.G418T:p.V140L;	0.999366535856615	0.98
18	61011726	C	G	18	63344493	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.G610C:p.V204L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.G325C:p.V109L;ENSG00000119537:ENST00000406396:exon7:c.G610C:p.V204L;ENSG00000119537:ENST00000326575:exon6:c.G418C:p.V140L;	0.999052843142745	0.93
18	61011726	C	T	18	63344493	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon7:c.G610A:p.V204M;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon4:c.G325A:p.V109M;ENSG00000119537:ENST00000406396:exon7:c.G610A:p.V204M;ENSG00000119537:ENST00000326575:exon6:c.G418A:p.V140M;	0.999046296526345	0.934
18	61011727	C	A	18	63344494	y	y	splicing	KDSR(NM_002035:exon8:c.610-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.610-1G>T;ENST00000591902:exon5:c.325-1G>T;ENST00000326575:exon7:c.418-1G>T)	.	.	0.999992460661115	0.92
18	61011727	C	G	18	63344494	y	y	splicing	KDSR(NM_002035:exon8:c.610-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.610-1G>C;ENST00000591902:exon5:c.325-1G>C;ENST00000326575:exon7:c.418-1G>C)	.	.	0.999992460661115	0.92
18	61011727	C	T	18	63344494	y	y	splicing	KDSR(NM_002035:exon8:c.610-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.610-1G>A;ENST00000591902:exon5:c.325-1G>A;ENST00000326575:exon7:c.418-1G>A)	.	.	0.999992460661115	0.92
18	61011728	T	A	18	63344495	y	y	splicing	KDSR(NM_002035:exon8:c.610-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.610-2A>T;ENST00000591902:exon5:c.325-2A>T;ENST00000326575:exon7:c.418-2A>T)	.	.	0.999991057698317	0.924
18	61011728	T	C	18	63344495	y	y	splicing	KDSR(NM_002035:exon8:c.610-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.610-2A>G;ENST00000591902:exon5:c.325-2A>G;ENST00000326575:exon7:c.418-2A>G)	.	.	0.999991057698317	0.924
18	61011728	T	G	18	63344495	y	y	splicing	KDSR(NM_002035:exon8:c.610-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon8:c.610-2A>C;ENST00000591902:exon5:c.325-2A>C;ENST00000326575:exon7:c.418-2A>C)	.	.	0.999991057698317	0.924
18	61011729	G	A	18	63344496	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00513365762573892	0.092
18	61011729	G	C	18	63344496	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999826824872305	0.934
18	61011729	G	T	18	63344496	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.961504932255649	0.794
18	61011730	C	A	18	63344497	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.14951119431014E-4	0.048
18	61011730	C	G	18	63344497	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.72635051091225E-4	0.024
18	61011730	C	T	18	63344497	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00136551958925596	0.08
18	61011731	A	C	18	63344498	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999887632591976	0.858
18	61011731	A	G	18	63344498	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00229307820182626	0.208
18	61011731	A	T	18	63344498	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.99970982363513	0.824
18	61011732	T	A	18	63344499	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.85568721037255E-4	0.038
18	61011732	T	C	18	63344499	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.997048610749585	0.948
18	61011732	T	G	18	63344499	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.28669429387405E-4	0.016
18	61011733	T	A	18	63344500	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.68783372538249E-5	0.004
18	61011733	T	C	18	63344500	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.99361417582758	0.886
18	61011733	T	G	18	63344500	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.68783372538249E-5	0.002
18	61011734	T	A	18	63344501	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.64084084870011E-5	0.05
18	61011734	T	C	18	63344501	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.98942414859726E-4	0.186
18	61011734	T	G	18	63344501	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.59355144687689E-5	0.044
18	61011735	C	A	18	63344502	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.52930514713624E-5	0.008
18	61011735	C	G	18	63344502	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.17176282120042E-5	0.0
18	61011735	C	T	18	63344502	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.37455796500833E-4	0.014
18	61011736	A	C	18	63344503	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.66527320589617	0.62
18	61011736	A	G	18	63344503	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.72624831967176E-4	0.06
18	61011736	A	T	18	63344503	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999930601696573	0.92
18	61011737	A	C	18	63344504	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.548655620697085	0.55
18	61011737	A	G	18	63344504	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0155737811000193	0.16
18	61011737	A	T	18	63344504	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.735964206384541	0.588
18	61011738	A	C	18	63344505	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0438997455455159	0.41
18	61011738	A	G	18	63344505	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.72758612544854E-4	0.058
18	61011738	A	T	18	63344505	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0483017497567484	0.504
18	61018113	A	C	18	63350880	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.08443718193953E-5	0.0
18	61018113	A	G	18	63350880	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.00787505764898E-5	0.002
18	61018113	A	T	18	63350880	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.89441853916266E-5	0.0
18	61018114	C	A	18	63350881	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.69860123117182E-4	0.002
18	61018114	C	G	18	63350881	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.61996082422776E-4	0.0
18	61018114	C	T	18	63350881	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.79310572903282E-5	0.0
18	61018115	T	A	18	63350882	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.55290551841734E-5	0.024
18	61018115	T	C	18	63350882	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.70811916878308E-4	0.124
18	61018115	T	G	18	63350882	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.04833023267767E-4	0.016
18	61018116	T	A	18	63350883	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.92103185683623E-5	0.01
18	61018116	T	C	18	63350883	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.13315536300129E-4	0.106
18	61018116	T	G	18	63350883	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.7689004265062E-4	0.052
18	61018117	T	A	18	63350884	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.817211842847253	0.626
18	61018117	T	C	18	63350884	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.989793441639241	0.858
18	61018117	T	G	18	63350884	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.949412266979229	0.736
18	61018118	T	A	18	63350885	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999778816512817	0.952
18	61018118	T	C	18	63350885	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.961743900805812	0.83
18	61018118	T	G	18	63350885	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999579403060802	0.95
18	61018119	A	C	18	63350886	y	y	splicing	KDSR(NM_002035:exon7:c.609+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.609+2T>G;ENST00000591902:exon4:c.324+2T>G)	.	.	0.999988247793601	0.954
18	61018119	A	G	18	63350886	y	y	splicing	KDSR(NM_002035:exon7:c.609+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.609+2T>C;ENST00000591902:exon4:c.324+2T>C)	.	.	0.99340600729494	0.714
18	61018119	A	T	18	63350886	y	y	splicing	KDSR(NM_002035:exon7:c.609+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.609+2T>A;ENST00000591902:exon4:c.324+2T>A)	.	.	0.999988247793601	0.954
18	61018120	C	A	18	63350887	y	y	splicing	KDSR(NM_002035:exon7:c.609+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.609+1G>T;ENST00000591902:exon4:c.324+1G>T)	.	.	0.999990361384395	0.952
18	61018120	C	G	18	63350887	y	y	splicing	KDSR(NM_002035:exon7:c.609+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.609+1G>C;ENST00000591902:exon4:c.324+1G>C)	.	.	0.999990361384395	0.952
18	61018120	C	T	18	63350887	y	y	splicing	KDSR(NM_002035:exon7:c.609+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.609+1G>A;ENST00000591902:exon4:c.324+1G>A)	.	.	0.999990361384395	0.952
18	61018121	C	A	18	63350888	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G609T:p.E203D;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon3:c.G324T:p.E108D;ENSG00000119537:ENST00000406396:exon6:c.G609T:p.E203D;	0.999992085169995	0.998
18	61018121	C	G	18	63350888	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G609C:p.E203D;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon3:c.G324C:p.E108D;ENSG00000119537:ENST00000406396:exon6:c.G609C:p.E203D;	0.999997610789446	1.0
18	61018121	C	T	18	63350888	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon6:c.G609A:p.E203E;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000591902:exon3:c.G324A:p.E108E;ENSG00000119537:ENST00000406396:exon6:c.G609A:p.E203E;	0.999981718902227	1.0
18	61018122	T	A	18	63350889	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.A608T:p.E203V;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon3:c.A323T:p.E108V;ENSG00000119537:ENST00000406396:exon6:c.A608T:p.E203V;	0.999967374210276	0.992
18	61018122	T	C	18	63350889	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.A608G:p.E203G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon3:c.A323G:p.E108G;ENSG00000119537:ENST00000406396:exon6:c.A608G:p.E203G;	0.99997757589153	0.996
18	61018122	T	G	18	63350889	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.A608C:p.E203A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon3:c.A323C:p.E108A;ENSG00000119537:ENST00000406396:exon6:c.A608C:p.E203A;	0.999907925604823	0.996
18	61018123	C	A	18	63350890	y	y	exonic	KDSR	stopgain SNV	KDSR:NM_002035:exon6:c.G607T:p.E203X;	exonic	ENSG00000119537	stopgain SNV	ENSG00000119537:ENST00000591902:exon3:c.G322T:p.E108X;ENSG00000119537:ENST00000406396:exon6:c.G607T:p.E203X;	0.997722497307067	0.778
18	61018123	C	G	18	63350890	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G607C:p.E203Q;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon3:c.G322C:p.E108Q;ENSG00000119537:ENST00000406396:exon6:c.G607C:p.E203Q;	0.969403504182622	0.746
18	61018123	C	T	18	63350890	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G607A:p.E203K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon3:c.G322A:p.E108K;ENSG00000119537:ENST00000406396:exon6:c.G607A:p.E203K;	0.969403504182622	0.776
18	61018311	C	A	18	63351078	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G419T:p.R140M;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon6:c.G404T:p.R135M;ENSG00000119537:ENST00000591902:exon3:c.G134T:p.R45M;ENSG00000119537:ENST00000406396:exon6:c.G419T:p.R140M;	1.18256585737921E-4	0.11
18	61018311	C	G	18	63351078	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G419C:p.R140T;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon6:c.G404C:p.R135T;ENSG00000119537:ENST00000591902:exon3:c.G134C:p.R45T;ENSG00000119537:ENST00000406396:exon6:c.G419C:p.R140T;	7.7247593327576E-5	0.01
18	61018311	C	T	18	63351078	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G419A:p.R140K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon6:c.G404A:p.R135K;ENSG00000119537:ENST00000591902:exon3:c.G134A:p.R45K;ENSG00000119537:ENST00000406396:exon6:c.G419A:p.R140K;	6.15223826911776E-5	0.008
18	61018312	T	A	18	63351079	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.A418T:p.R140W;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon6:c.A403T:p.R135W;ENSG00000119537:ENST00000591902:exon3:c.A133T:p.R45W;ENSG00000119537:ENST00000406396:exon6:c.A418T:p.R140W;	0.00403127214759817	0.108
18	61018312	T	C	18	63351079	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon6:c.A418G:p.R140G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon6:c.A403G:p.R135G;ENSG00000119537:ENST00000591902:exon3:c.A133G:p.R45G;ENSG00000119537:ENST00000406396:exon6:c.A418G:p.R140G;	6.71993465926249E-4	0.084
18	61018312	T	G	18	63351079	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon6:c.A418C:p.R140R;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000592327:exon6:c.A403C:p.R135R;ENSG00000119537:ENST00000591902:exon3:c.A133C:p.R45R;ENSG00000119537:ENST00000406396:exon6:c.A418C:p.R140R;	5.61305454841102E-4	0.02
18	61018313	C	A	18	63351080	y	y	splicing	KDSR(NM_002035:exon7:c.418-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.418-1G>T;ENST00000591902:exon4:c.133-1G>T;ENST00000592327:exon7:c.403-1G>T)	.	.	0.999985532734767	0.938
18	61018313	C	G	18	63351080	y	y	splicing	KDSR(NM_002035:exon7:c.418-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.418-1G>C;ENST00000591902:exon4:c.133-1G>C;ENST00000592327:exon7:c.403-1G>C)	.	.	0.999985532734767	0.938
18	61018313	C	T	18	63351080	y	y	splicing	KDSR(NM_002035:exon7:c.418-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.418-1G>A;ENST00000591902:exon4:c.133-1G>A;ENST00000592327:exon7:c.403-1G>A)	.	.	0.999985532734767	0.938
18	61018314	T	A	18	63351081	y	y	splicing	KDSR(NM_002035:exon7:c.418-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.418-2A>T;ENST00000591902:exon4:c.133-2A>T;ENST00000592327:exon7:c.403-2A>T)	.	.	0.999988247793601	0.93
18	61018314	T	C	18	63351081	y	y	splicing	KDSR(NM_002035:exon7:c.418-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.418-2A>G;ENST00000591902:exon4:c.133-2A>G;ENST00000592327:exon7:c.403-2A>G)	.	.	0.999988247793601	0.93
18	61018314	T	G	18	63351081	y	y	splicing	KDSR(NM_002035:exon7:c.418-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon7:c.418-2A>C;ENST00000591902:exon4:c.133-2A>C;ENST00000592327:exon7:c.403-2A>C)	.	.	0.999988247793601	0.93
18	61018315	G	A	18	63351082	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0412002141742865	0.154
18	61018315	G	C	18	63351082	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999581096890668	0.968
18	61018315	G	T	18	63351082	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.997128389766558	0.816
18	61018316	C	A	18	63351083	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.10463382395029E-5	0.052
18	61018316	C	G	18	63351083	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.05721868796193E-5	0.002
18	61018316	C	T	18	63351083	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.55572702523237E-5	0.002
18	61018317	A	C	18	63351084	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00113401477635215	0.078
18	61018317	A	G	18	63351084	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.10922423952257E-5	0.0
18	61018317	A	T	18	63351084	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.992534004762701	0.864
18	61018318	G	A	18	63351085	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.03119204902838E-4	0.04
18	61018318	G	C	18	63351085	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0106439510654185	0.184
18	61018318	G	T	18	63351085	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0145125261307613	0.18
18	61018319	G	A	18	63351086	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.76293195123361E-5	0.006
18	61018319	G	C	18	63351086	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00107985101060691	0.042
18	61018319	G	T	18	63351086	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00134654404633237	0.054
18	61018320	G	A	18	63351087	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.08042868510961E-4	0.048
18	61018320	G	C	18	63351087	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00202595955773547	0.076
18	61018320	G	T	18	63351087	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00578361352948442	0.09
18	61018321	A	C	18	63351088	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.017879305985774	0.126
18	61018321	A	G	18	63351088	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.47819008786515E-4	0.026
18	61018321	A	T	18	63351088	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0290484503695186	0.196
18	61018322	A	C	18	63351089	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.78487232750622E-4	0.114
18	61018322	A	G	18	63351089	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.26265722864527E-4	0.036
18	61018322	A	T	18	63351089	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00298297519481855	0.144
18	61018323	C	A	18	63351090	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.16154126813176E-4	0.02
18	61018323	C	G	18	63351090	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0016235831534813	0.03
18	61018323	C	T	18	63351090	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0050672510907339	0.112
18	61018324	A	C	18	63351091	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0104692629695685	0.166
18	61018324	A	G	18	63351091	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0012082820846631	0.032
18	61018324	A	T	18	63351091	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999863729459085	0.932
18	61022429	T	A	18	63355196	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.31316364737483E-4	0.01
18	61022429	T	C	18	63355196	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.69014701894366E-4	0.006
18	61022429	T	G	18	63355196	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.84389790685765E-4	0.008
18	61022430	T	A	18	63355197	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.63715895823406E-4	0.032
18	61022430	T	C	18	63355197	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.64741583199759E-4	0.026
18	61022430	T	G	18	63355197	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.82975131989024E-4	0.026
18	61022431	A	C	18	63355198	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.996385983680393	0.806
18	61022431	A	G	18	63355198	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.989859508254232	0.806
18	61022431	A	T	18	63355198	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.997783679271451	0.792
18	61022432	C	A	18	63355199	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999858918108844	0.936
18	61022432	C	G	18	63355199	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999678288926173	0.992
18	61022432	C	T	18	63355199	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999628115097428	0.902
18	61022433	T	A	18	63355200	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999374183201263	0.904
18	61022433	T	C	18	63355200	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999276714534637	0.94
18	61022433	T	G	18	63355200	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.99915174593136	0.922
18	61022434	T	A	18	63355201	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.993739507556296	0.826
18	61022434	T	C	18	63355201	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0394419960143608	0.264
18	61022434	T	G	18	63355201	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999785131183116	0.912
18	61022435	A	C	18	63355202	y	y	splicing	KDSR(NM_002035:exon6:c.417+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.417+2T>G;ENST00000591902:exon3:c.132+2T>G;ENST00000326575:exon6:c.417+2T>G)	.	.	0.999988247793601	0.93
18	61022435	A	G	18	63355202	y	y	splicing	KDSR(NM_002035:exon6:c.417+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.417+2T>C;ENST00000591902:exon3:c.132+2T>C;ENST00000326575:exon6:c.417+2T>C)	.	.	0.992783534660112	0.692
18	61022435	A	T	18	63355202	y	y	splicing	KDSR(NM_002035:exon6:c.417+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.417+2T>A;ENST00000591902:exon3:c.132+2T>A;ENST00000326575:exon6:c.417+2T>A)	.	.	0.999988247793601	0.93
18	61022436	C	A	18	63355203	y	y	splicing	KDSR(NM_002035:exon6:c.417+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.417+1G>T;ENST00000591902:exon3:c.132+1G>T;ENST00000326575:exon6:c.417+1G>T)	.	.	0.999990361384395	0.938
18	61022436	C	G	18	63355203	y	y	splicing	KDSR(NM_002035:exon6:c.417+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.417+1G>C;ENST00000591902:exon3:c.132+1G>C;ENST00000326575:exon6:c.417+1G>C)	.	.	0.999990361384395	0.938
18	61022436	C	T	18	63355203	y	y	splicing	KDSR(NM_002035:exon6:c.417+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.417+1G>A;ENST00000591902:exon3:c.132+1G>A;ENST00000326575:exon6:c.417+1G>A)	.	.	0.999990361384395	0.938
18	61022437	T	A	18	63355204	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.A417T:p.E139D;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon2:c.A132T:p.E44D;ENSG00000119537:ENST00000406396:exon5:c.A417T:p.E139D;ENSG00000119537:ENST00000326575:exon5:c.A417T:p.E139D;	0.00384042897880147	0.072
18	61022437	T	C	18	63355204	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon5:c.A417G:p.E139E;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000591902:exon2:c.A132G:p.E44E;ENSG00000119537:ENST00000406396:exon5:c.A417G:p.E139E;ENSG00000119537:ENST00000326575:exon5:c.A417G:p.E139E;	1.00668553120829E-4	0.03
18	61022437	T	G	18	63355204	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.A417C:p.E139D;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon2:c.A132C:p.E44D;ENSG00000119537:ENST00000406396:exon5:c.A417C:p.E139D;ENSG00000119537:ENST00000326575:exon5:c.A417C:p.E139D;	0.00111798910680596	0.076
18	61022438	T	A	18	63355205	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.A416T:p.E139V;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon2:c.A131T:p.E44V;ENSG00000119537:ENST00000406396:exon5:c.A416T:p.E139V;ENSG00000119537:ENST00000326575:exon5:c.A416T:p.E139V;	0.99878873891772	0.956
18	61022438	T	C	18	63355205	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.A416G:p.E139G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon2:c.A131G:p.E44G;ENSG00000119537:ENST00000406396:exon5:c.A416G:p.E139G;ENSG00000119537:ENST00000326575:exon5:c.A416G:p.E139G;	0.99500027248421	0.92
18	61022438	T	G	18	63355205	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.A416C:p.E139A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon2:c.A131C:p.E44A;ENSG00000119537:ENST00000406396:exon5:c.A416C:p.E139A;ENSG00000119537:ENST00000326575:exon5:c.A416C:p.E139A;	0.970104404543292	0.782
18	61022439	C	A	18	63355206	y	y	exonic	KDSR	stopgain SNV	KDSR:NM_002035:exon5:c.G415T:p.E139X;	exonic	ENSG00000119537	stopgain SNV	ENSG00000119537:ENST00000591902:exon2:c.G130T:p.E44X;ENSG00000119537:ENST00000406396:exon5:c.G415T:p.E139X;ENSG00000119537:ENST00000326575:exon5:c.G415T:p.E139X;	0.978617864940903	0.88
18	61022439	C	G	18	63355206	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.G415C:p.E139Q;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon2:c.G130C:p.E44Q;ENSG00000119537:ENST00000406396:exon5:c.G415C:p.E139Q;ENSG00000119537:ENST00000326575:exon5:c.G415C:p.E139Q;	0.960912184537898	0.666
18	61022439	C	T	18	63355206	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.G415A:p.E139K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000591902:exon2:c.G130A:p.E44K;ENSG00000119537:ENST00000406396:exon5:c.G415A:p.E139K;ENSG00000119537:ENST00000326575:exon5:c.G415A:p.E139K;	0.223710912221245	0.3
18	61022531	G	A	18	63355298	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.C323T:p.A108V;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon5:c.C323T:p.A108V;ENSG00000119537:ENST00000591902:exon2:c.C38T:p.A13V;ENSG00000119537:ENST00000406396:exon5:c.C323T:p.A108V;ENSG00000119537:ENST00000326575:exon5:c.C323T:p.A108V;	0.65225143975216	0.634
18	61022531	G	C	18	63355298	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.C323G:p.A108G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon5:c.C323G:p.A108G;ENSG00000119537:ENST00000591902:exon2:c.C38G:p.A13G;ENSG00000119537:ENST00000406396:exon5:c.C323G:p.A108G;ENSG00000119537:ENST00000326575:exon5:c.C323G:p.A108G;	0.986135108787789	0.866
18	61022531	G	T	18	63355298	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.C323A:p.A108E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon5:c.C323A:p.A108E;ENSG00000119537:ENST00000591902:exon2:c.C38A:p.A13E;ENSG00000119537:ENST00000406396:exon5:c.C323A:p.A108E;ENSG00000119537:ENST00000326575:exon5:c.C323A:p.A108E;	0.994441602048387	0.892
18	61022532	C	A	18	63355299	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.G322T:p.A108S;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon5:c.G322T:p.A108S;ENSG00000119537:ENST00000591902:exon2:c.G37T:p.A13S;ENSG00000119537:ENST00000406396:exon5:c.G322T:p.A108S;ENSG00000119537:ENST00000326575:exon5:c.G322T:p.A108S;	0.999941446814617	1.0
18	61022532	C	G	18	63355299	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.G322C:p.A108P;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon5:c.G322C:p.A108P;ENSG00000119537:ENST00000591902:exon2:c.G37C:p.A13P;ENSG00000119537:ENST00000406396:exon5:c.G322C:p.A108P;ENSG00000119537:ENST00000326575:exon5:c.G322C:p.A108P;	0.999919845974192	0.966
18	61022532	C	T	18	63355299	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon5:c.G322A:p.A108T;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon5:c.G322A:p.A108T;ENSG00000119537:ENST00000591902:exon2:c.G37A:p.A13T;ENSG00000119537:ENST00000406396:exon5:c.G322A:p.A108T;ENSG00000119537:ENST00000326575:exon5:c.G322A:p.A108T;	0.999641598774404	0.95
18	61022533	C	A	18	63355300	y	y	splicing	KDSR(NM_002035:exon6:c.322-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.322-1G>T;ENST00000591902:exon3:c.37-1G>T;ENST00000326575:exon6:c.322-1G>T;ENST00000592327:exon6:c.322-1G>T)	.	.	0.999990361384395	0.938
18	61022533	C	G	18	63355300	y	y	splicing	KDSR(NM_002035:exon6:c.322-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.322-1G>C;ENST00000591902:exon3:c.37-1G>C;ENST00000326575:exon6:c.322-1G>C;ENST00000592327:exon6:c.322-1G>C)	.	.	0.999990361384395	0.938
18	61022533	C	T	18	63355300	y	y	splicing	KDSR(NM_002035:exon6:c.322-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.322-1G>A;ENST00000591902:exon3:c.37-1G>A;ENST00000326575:exon6:c.322-1G>A;ENST00000592327:exon6:c.322-1G>A)	.	.	0.999990361384395	0.938
18	61022534	T	A	18	63355301	y	y	splicing	KDSR(NM_002035:exon6:c.322-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.322-2A>T;ENST00000591902:exon3:c.37-2A>T;ENST00000326575:exon6:c.322-2A>T;ENST00000592327:exon6:c.322-2A>T)	.	.	0.999988247793601	0.93
18	61022534	T	C	18	63355301	y	y	splicing	KDSR(NM_002035:exon6:c.322-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.322-2A>G;ENST00000591902:exon3:c.37-2A>G;ENST00000326575:exon6:c.322-2A>G;ENST00000592327:exon6:c.322-2A>G)	.	.	0.999988247793601	0.93
18	61022534	T	G	18	63355301	y	y	splicing	KDSR(NM_002035:exon6:c.322-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon6:c.322-2A>C;ENST00000591902:exon3:c.37-2A>C;ENST00000326575:exon6:c.322-2A>C;ENST00000592327:exon6:c.322-2A>C)	.	.	0.999988247793601	0.93
18	61022535	A	C	18	63355302	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.993962016411491	0.754
18	61022535	A	G	18	63355302	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.97180700166416E-5	0.0
18	61022535	A	T	18	63355302	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.213069499704771	0.31
18	61022536	G	A	18	63355303	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.24474354119108E-4	0.002
18	61022536	G	C	18	63355303	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00147903858281047	0.064
18	61022536	G	T	18	63355303	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00145933099800229	0.024
18	61022537	A	C	18	63355304	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.996970707656557	0.918
18	61022537	A	G	18	63355304	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.144664597281477	0.198
18	61022537	A	T	18	63355304	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.959122576772072	0.882
18	61022538	A	C	18	63355305	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.354718815169197	0.484
18	61022538	A	G	18	63355305	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.42296599627361E-4	0.002
18	61022538	A	T	18	63355305	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0782775193602735	0.444
18	61022539	A	C	18	63355306	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0119752781665595	0.26
18	61022539	A	G	18	63355306	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.53725839548878E-4	0.012
18	61022539	A	T	18	63355306	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0939715096721702	0.226
18	61022540	A	C	18	63355307	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00127495200365553	0.186
18	61022540	A	G	18	63355307	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.99898884353334E-5	0.03
18	61022540	A	T	18	63355307	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0453819353479849	0.21
18	61022541	A	C	18	63355308	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999977694993123	0.92
18	61022541	A	G	18	63355308	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.36208019607291E-5	0.016
18	61022541	A	T	18	63355308	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.315356005549124	0.466
18	61022542	T	A	18	63355309	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.45391076118186E-5	0.0
18	61022542	T	C	18	63355309	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.3990334501276E-5	0.002
18	61022542	T	G	18	63355309	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.84994556709597E-5	0.018
18	61022543	G	A	18	63355310	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.23523049784401E-5	0.006
18	61022543	G	C	18	63355310	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999819800206024	0.928
18	61022543	G	T	18	63355310	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.61392253035462E-4	0.066
18	61022544	T	A	18	63355311	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.64616273593571E-5	0.002
18	61022544	T	C	18	63355311	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.9953118576446E-5	0.018
18	61022544	T	G	18	63355311	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.38526496422083E-5	0.002
18	61022723	C	A	18	63355490	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.55250222044189E-4	0.006
18	61022723	C	G	18	63355490	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.14290880111948E-4	0.002
18	61022723	C	T	18	63355490	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.80415450707198E-4	0.0
18	61022724	C	A	18	63355491	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.1711880308461E-4	0.0
18	61022724	C	G	18	63355491	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.142564839522E-5	0.0
18	61022724	C	T	18	63355491	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.17734007548781E-5	0.0
18	61022725	T	A	18	63355492	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00269079493829013	0.028
18	61022725	T	C	18	63355492	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.77118651742354E-4	0.002
18	61022725	T	G	18	63355492	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00992098189960952	0.114
18	61022726	C	A	18	63355493	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999972255323498	0.976
18	61022726	C	G	18	63355493	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999886104804105	0.984
18	61022726	C	T	18	63355493	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999913722998646	0.988
18	61022727	T	A	18	63355494	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.997776774915513	0.8
18	61022727	T	C	18	63355494	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.998601506029378	0.836
18	61022727	T	G	18	63355494	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.996254421581355	0.776
18	61022728	T	A	18	63355495	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999917956692273	0.96
18	61022728	T	C	18	63355495	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.825798409354025	0.546
18	61022728	T	G	18	63355495	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.99989762845809	0.95
18	61022729	A	C	18	63355496	y	y	splicing	KDSR(NM_002035:exon5:c.321+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.321+2T>G;ENST00000591902:exon2:c.36+2T>G;ENST00000326575:exon5:c.321+2T>G;ENST00000592327:exon5:c.321+2T>G)	.	.	0.999992446697775	0.93
18	61022729	A	G	18	63355496	y	y	splicing	KDSR(NM_002035:exon5:c.321+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.321+2T>C;ENST00000591902:exon2:c.36+2T>C;ENST00000326575:exon5:c.321+2T>C;ENST00000592327:exon5:c.321+2T>C)	.	.	0.996192767656757	0.65
18	61022729	A	T	18	63355496	y	y	splicing	KDSR(NM_002035:exon5:c.321+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.321+2T>A;ENST00000591902:exon2:c.36+2T>A;ENST00000326575:exon5:c.321+2T>A;ENST00000592327:exon5:c.321+2T>A)	.	.	0.999992446697775	0.93
18	61022730	C	A	18	63355497	y	y	splicing	KDSR(NM_002035:exon5:c.321+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.321+1G>T;ENST00000591902:exon2:c.36+1G>T;ENST00000326575:exon5:c.321+1G>T;ENST00000592327:exon5:c.321+1G>T)	.	.	0.999988247793601	0.928
18	61022730	C	G	18	63355497	y	y	splicing	KDSR(NM_002035:exon5:c.321+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.321+1G>C;ENST00000591902:exon2:c.36+1G>C;ENST00000326575:exon5:c.321+1G>C;ENST00000592327:exon5:c.321+1G>C)	.	.	0.999988247793601	0.928
18	61022730	C	T	18	63355497	y	y	splicing	KDSR(NM_002035:exon5:c.321+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.321+1G>A;ENST00000591902:exon2:c.36+1G>A;ENST00000326575:exon5:c.321+1G>A;ENST00000592327:exon5:c.321+1G>A)	.	.	0.999988247793601	0.928
18	61022731	T	A	18	63355498	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.A321T:p.Q107H;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.A321T:p.Q107H;ENSG00000119537:ENST00000591902:exon1:c.A36T:p.Q12H;ENSG00000119537:ENST00000406396:exon4:c.A321T:p.Q107H;ENSG00000119537:ENST00000326575:exon4:c.A321T:p.Q107H;	0.00243763718432309	0.256
18	61022731	T	C	18	63355498	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon4:c.A321G:p.Q107Q;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.A321G:p.Q107Q;ENSG00000119537:ENST00000591902:exon1:c.A36G:p.Q12Q;ENSG00000119537:ENST00000406396:exon4:c.A321G:p.Q107Q;ENSG00000119537:ENST00000326575:exon4:c.A321G:p.Q107Q;	8.77456055388573E-4	0.096
18	61022731	T	G	18	63355498	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.A321C:p.Q107H;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.A321C:p.Q107H;ENSG00000119537:ENST00000591902:exon1:c.A36C:p.Q12H;ENSG00000119537:ENST00000406396:exon4:c.A321C:p.Q107H;ENSG00000119537:ENST00000326575:exon4:c.A321C:p.Q107H;	5.99239908469414E-5	0.176
18	61022732	T	A	18	63355499	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.A320T:p.Q107L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.A320T:p.Q107L;ENSG00000119537:ENST00000591902:exon1:c.A35T:p.Q12L;ENSG00000119537:ENST00000406396:exon4:c.A320T:p.Q107L;ENSG00000119537:ENST00000326575:exon4:c.A320T:p.Q107L;	0.999734022831702	0.98
18	61022732	T	C	18	63355499	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.A320G:p.Q107R;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.A320G:p.Q107R;ENSG00000119537:ENST00000591902:exon1:c.A35G:p.Q12R;ENSG00000119537:ENST00000406396:exon4:c.A320G:p.Q107R;ENSG00000119537:ENST00000326575:exon4:c.A320G:p.Q107R;	0.996979381520082	0.924
18	61022732	T	G	18	63355499	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.A320C:p.Q107P;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.A320C:p.Q107P;ENSG00000119537:ENST00000591902:exon1:c.A35C:p.Q12P;ENSG00000119537:ENST00000406396:exon4:c.A320C:p.Q107P;ENSG00000119537:ENST00000326575:exon4:c.A320C:p.Q107P;	0.999397568689825	0.984
18	61022733	G	A	18	63355500	y	y	exonic	KDSR	stopgain SNV	KDSR:NM_002035:exon4:c.C319T:p.Q107X;	exonic	ENSG00000119537	stopgain SNV	ENSG00000119537:ENST00000592327:exon4:c.C319T:p.Q107X;ENSG00000119537:ENST00000591902:exon1:c.C34T:p.Q12X;ENSG00000119537:ENST00000406396:exon4:c.C319T:p.Q107X;ENSG00000119537:ENST00000326575:exon4:c.C319T:p.Q107X;	0.998567273550512	0.908
18	61022733	G	C	18	63355500	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.C319G:p.Q107E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.C319G:p.Q107E;ENSG00000119537:ENST00000591902:exon1:c.C34G:p.Q12E;ENSG00000119537:ENST00000406396:exon4:c.C319G:p.Q107E;ENSG00000119537:ENST00000326575:exon4:c.C319G:p.Q107E;	0.00861791289881682	0.19
18	61022733	G	T	18	63355500	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.C319A:p.Q107K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.C319A:p.Q107K;ENSG00000119537:ENST00000591902:exon1:c.C34A:p.Q12K;ENSG00000119537:ENST00000406396:exon4:c.C319A:p.Q107K;ENSG00000119537:ENST00000326575:exon4:c.C319A:p.Q107K;	0.899387577509207	0.696
18	61022795	A	C	18	63355562	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.T257G:p.V86G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.T257G:p.V86G;ENSG00000119537:ENST00000406396:exon4:c.T257G:p.V86G;ENSG00000119537:ENST00000326575:exon4:c.T257G:p.V86G;	0.402869579315542	0.374
18	61022795	A	G	18	63355562	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.T257C:p.V86A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.T257C:p.V86A;ENSG00000119537:ENST00000406396:exon4:c.T257C:p.V86A;ENSG00000119537:ENST00000326575:exon4:c.T257C:p.V86A;	0.0248224954303318	0.066
18	61022795	A	T	18	63355562	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.T257A:p.V86E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.T257A:p.V86E;ENSG00000119537:ENST00000406396:exon4:c.T257A:p.V86E;ENSG00000119537:ENST00000326575:exon4:c.T257A:p.V86E;	0.0559583050700469	0.174
18	61022796	C	A	18	63355563	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.G256T:p.V86L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.G256T:p.V86L;ENSG00000119537:ENST00000406396:exon4:c.G256T:p.V86L;ENSG00000119537:ENST00000326575:exon4:c.G256T:p.V86L;	0.997247769368983	0.758
18	61022796	C	G	18	63355563	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.G256C:p.V86L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.G256C:p.V86L;ENSG00000119537:ENST00000406396:exon4:c.G256C:p.V86L;ENSG00000119537:ENST00000326575:exon4:c.G256C:p.V86L;	0.998075791662933	0.766
18	61022796	C	T	18	63355563	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon4:c.G256A:p.V86M;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon4:c.G256A:p.V86M;ENSG00000119537:ENST00000406396:exon4:c.G256A:p.V86M;ENSG00000119537:ENST00000326575:exon4:c.G256A:p.V86M;	0.995170132665023	0.674
18	61022797	C	A	18	63355564	y	y	splicing	KDSR(NM_002035:exon5:c.256-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.256-1G>T;ENST00000326575:exon5:c.256-1G>T;ENST00000592327:exon5:c.256-1G>T)	.	.	0.999988247793601	0.928
18	61022797	C	G	18	63355564	y	y	splicing	KDSR(NM_002035:exon5:c.256-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.256-1G>C;ENST00000326575:exon5:c.256-1G>C;ENST00000592327:exon5:c.256-1G>C)	.	.	0.999988247793601	0.928
18	61022797	C	T	18	63355564	y	y	splicing	KDSR(NM_002035:exon5:c.256-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.256-1G>A;ENST00000326575:exon5:c.256-1G>A;ENST00000592327:exon5:c.256-1G>A)	.	.	0.999988247793601	0.928
18	61022798	T	A	18	63355565	y	y	splicing	KDSR(NM_002035:exon5:c.256-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.256-2A>T;ENST00000326575:exon5:c.256-2A>T;ENST00000592327:exon5:c.256-2A>T)	.	.	0.999992446697775	0.93
18	61022798	T	C	18	63355565	y	y	splicing	KDSR(NM_002035:exon5:c.256-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.256-2A>G;ENST00000326575:exon5:c.256-2A>G;ENST00000592327:exon5:c.256-2A>G)	.	.	0.999992446697775	0.93
18	61022798	T	G	18	63355565	y	y	splicing	KDSR(NM_002035:exon5:c.256-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon5:c.256-2A>C;ENST00000326575:exon5:c.256-2A>C;ENST00000592327:exon5:c.256-2A>C)	.	.	0.999992446697775	0.93
18	61022799	G	A	18	63355566	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0492181999273576	0.282
18	61022799	G	C	18	63355566	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999880141069253	0.88
18	61022799	G	T	18	63355566	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.595764966768346	0.498
18	61022800	T	A	18	63355567	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.21750400726403E-5	0.014
18	61022800	T	C	18	63355567	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.800740059468708	0.604
18	61022800	T	G	18	63355567	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.37304867564182E-5	0.004
18	61022801	T	A	18	63355568	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.38314861092127E-5	0.0
18	61022801	T	C	18	63355568	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.60855821591075E-5	0.008
18	61022801	T	G	18	63355568	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.03344453975284E-5	0.002
18	61022802	A	C	18	63355569	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.39401297116186E-5	0.04
18	61022802	A	G	18	63355569	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.63047519820662E-5	0.0
18	61022802	A	T	18	63355569	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.75900239922754E-5	0.026
18	61022803	A	C	18	63355570	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.23233656850026E-4	0.068
18	61022803	A	G	18	63355570	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.71280559079328E-4	0.012
18	61022803	A	T	18	63355570	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.42852241200548E-4	0.08
18	61022804	A	C	18	63355571	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.42871007436105E-4	0.038
18	61022804	A	G	18	63355571	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.52887373111812E-5	0.002
18	61022804	A	T	18	63355571	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.34136752641701E-5	0.04
18	61022805	A	C	18	63355572	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00298597609030883	0.052
18	61022805	A	G	18	63355572	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.5260022379373E-4	0.008
18	61022805	A	T	18	63355572	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00270166505990897	0.072
18	61022806	A	C	18	63355573	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.31884804331491E-4	0.054
18	61022806	A	G	18	63355573	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.63054595993454E-4	0.006
18	61022806	A	T	18	63355573	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.70940684518964E-4	0.052
18	61022807	A	C	18	63355574	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.77897771171035E-4	0.148
18	61022807	A	G	18	63355574	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.29494506002191E-4	0.052
18	61022807	A	T	18	63355574	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.25496407381318E-4	0.13
18	61022808	G	A	18	63355575	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.03454021530259E-5	0.01
18	61022808	G	C	18	63355575	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.06816650431059E-4	0.008
18	61022808	G	T	18	63355575	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.50150634646202E-4	0.024
18	61026961	A	C	18	63359728	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	7.26824569549532E-5	0.0
18	61026961	A	G	18	63359728	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.64745399314608E-5	0.0
18	61026961	A	T	18	63359728	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.64745399314608E-5	0.0
18	61026962	G	A	18	63359729	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.28263798173875E-5	0.0
18	61026962	G	C	18	63359729	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	5.10606531421503E-5	0.0
18	61026962	G	T	18	63359729	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.35142352974628E-5	0.0
18	61026963	A	C	18	63359730	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.48501559184993E-4	0.056
18	61026963	A	G	18	63359730	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0018453847460692	0.044
18	61026963	A	T	18	63359730	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00118202844247901	0.038
18	61026964	T	A	18	63359731	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.32732634774495E-4	0.006
18	61026964	T	C	18	63359731	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.95633593717152E-5	0.0
18	61026964	T	G	18	63359731	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.77752224065701E-4	0.026
18	61026965	T	A	18	63359732	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.309240195588338	0.304
18	61026965	T	C	18	63359732	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.178668219110897	0.292
18	61026965	T	G	18	63359732	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.327302833497073	0.338
18	61026966	T	A	18	63359733	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.996331194541859	0.856
18	61026966	T	C	18	63359733	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.479951116572286	0.684
18	61026966	T	G	18	63359733	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.993278090989685	0.8
18	61026967	A	C	18	63359734	y	y	splicing	KDSR(NM_002035:exon4:c.255+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.255+2T>G;ENST00000326575:exon4:c.255+2T>G;ENST00000592327:exon4:c.255+2T>G)	.	.	0.999989917668626	0.926
18	61026967	A	G	18	63359734	y	y	splicing	KDSR(NM_002035:exon4:c.255+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.255+2T>C;ENST00000326575:exon4:c.255+2T>C;ENST00000592327:exon4:c.255+2T>C)	.	.	0.990945634311904	0.616
18	61026967	A	T	18	63359734	y	y	splicing	KDSR(NM_002035:exon4:c.255+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.255+2T>A;ENST00000326575:exon4:c.255+2T>A;ENST00000592327:exon4:c.255+2T>A)	.	.	0.999989917668626	0.926
18	61026968	C	A	18	63359735	y	y	splicing	KDSR(NM_002035:exon4:c.255+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.255+1G>T;ENST00000326575:exon4:c.255+1G>T;ENST00000592327:exon4:c.255+1G>T)	.	.	0.999986675681007	0.934
18	61026968	C	G	18	63359735	y	y	splicing	KDSR(NM_002035:exon4:c.255+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.255+1G>C;ENST00000326575:exon4:c.255+1G>C;ENST00000592327:exon4:c.255+1G>C)	.	.	0.999986675681007	0.932
18	61026968	C	T	18	63359735	y	y	splicing	KDSR(NM_002035:exon4:c.255+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.255+1G>A;ENST00000326575:exon4:c.255+1G>A;ENST00000592327:exon4:c.255+1G>A)	.	.	0.999986675681007	0.934
18	61026969	C	A	18	63359736	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.G255T:p.Q85H;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.G255T:p.Q85H;ENSG00000119537:ENST00000406396:exon3:c.G255T:p.Q85H;ENSG00000119537:ENST00000326575:exon3:c.G255T:p.Q85H;	0.999970982195345	0.998
18	61026969	C	G	18	63359736	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.G255C:p.Q85H;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.G255C:p.Q85H;ENSG00000119537:ENST00000406396:exon3:c.G255C:p.Q85H;ENSG00000119537:ENST00000326575:exon3:c.G255C:p.Q85H;	0.999998982808916	0.992
18	61026969	C	T	18	63359736	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon3:c.G255A:p.Q85Q;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.G255A:p.Q85Q;ENSG00000119537:ENST00000406396:exon3:c.G255A:p.Q85Q;ENSG00000119537:ENST00000326575:exon3:c.G255A:p.Q85Q;	0.99993331781162	0.986
18	61026970	T	A	18	63359737	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.A254T:p.Q85L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.A254T:p.Q85L;ENSG00000119537:ENST00000406396:exon3:c.A254T:p.Q85L;ENSG00000119537:ENST00000326575:exon3:c.A254T:p.Q85L;	0.999051696697869	0.938
18	61026970	T	C	18	63359737	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.A254G:p.Q85R;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.A254G:p.Q85R;ENSG00000119537:ENST00000406396:exon3:c.A254G:p.Q85R;ENSG00000119537:ENST00000326575:exon3:c.A254G:p.Q85R;	0.998792520808847	0.908
18	61026970	T	G	18	63359737	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.A254C:p.Q85P;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.A254C:p.Q85P;ENSG00000119537:ENST00000406396:exon3:c.A254C:p.Q85P;ENSG00000119537:ENST00000326575:exon3:c.A254C:p.Q85P;	0.993286719950607	0.86
18	61026971	G	A	18	63359738	y	y	exonic	KDSR	stopgain SNV	KDSR:NM_002035:exon3:c.C253T:p.Q85X;	exonic	ENSG00000119537	stopgain SNV	ENSG00000119537:ENST00000592327:exon3:c.C253T:p.Q85X;ENSG00000119537:ENST00000406396:exon3:c.C253T:p.Q85X;ENSG00000119537:ENST00000326575:exon3:c.C253T:p.Q85X;	0.99785792762725	0.916
18	61026971	G	C	18	63359738	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.C253G:p.Q85E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.C253G:p.Q85E;ENSG00000119537:ENST00000406396:exon3:c.C253G:p.Q85E;ENSG00000119537:ENST00000326575:exon3:c.C253G:p.Q85E;	0.841002371868714	0.574
18	61026971	G	T	18	63359738	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.C253A:p.Q85K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.C253A:p.Q85K;ENSG00000119537:ENST00000406396:exon3:c.C253A:p.Q85K;ENSG00000119537:ENST00000326575:exon3:c.C253A:p.Q85K;	0.941487088294884	0.786
18	61027024	T	A	18	63359791	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.A200T:p.D67V;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.A200T:p.D67V;ENSG00000119537:ENST00000406396:exon3:c.A200T:p.D67V;ENSG00000119537:ENST00000326575:exon3:c.A200T:p.D67V;	0.00583893206739959	0.022
18	61027024	T	C	18	63359791	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.A200G:p.D67G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.A200G:p.D67G;ENSG00000119537:ENST00000406396:exon3:c.A200G:p.D67G;ENSG00000119537:ENST00000326575:exon3:c.A200G:p.D67G;	0.00513001570946212	0.032
18	61027024	T	G	18	63359791	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.A200C:p.D67A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.A200C:p.D67A;ENSG00000119537:ENST00000406396:exon3:c.A200C:p.D67A;ENSG00000119537:ENST00000326575:exon3:c.A200C:p.D67A;	0.0055514954483805	0.07
18	61027025	C	A	18	63359792	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.G199T:p.D67Y;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.G199T:p.D67Y;ENSG00000119537:ENST00000406396:exon3:c.G199T:p.D67Y;ENSG00000119537:ENST00000326575:exon3:c.G199T:p.D67Y;	0.999372578812626	0.98
18	61027025	C	G	18	63359792	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.G199C:p.D67H;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.G199C:p.D67H;ENSG00000119537:ENST00000406396:exon3:c.G199C:p.D67H;ENSG00000119537:ENST00000326575:exon3:c.G199C:p.D67H;	0.987533571941205	0.878
18	61027025	C	T	18	63359792	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon3:c.G199A:p.D67N;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon3:c.G199A:p.D67N;ENSG00000119537:ENST00000406396:exon3:c.G199A:p.D67N;ENSG00000119537:ENST00000326575:exon3:c.G199A:p.D67N;	0.883999395586032	0.626
18	61027026	C	A	18	63359793	y	y	splicing	KDSR(NM_002035:exon4:c.199-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.199-1G>T;ENST00000326575:exon4:c.199-1G>T;ENST00000592327:exon4:c.199-1G>T)	.	.	0.999986675681007	0.934
18	61027026	C	G	18	63359793	y	y	splicing	KDSR(NM_002035:exon4:c.199-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.199-1G>C;ENST00000326575:exon4:c.199-1G>C;ENST00000592327:exon4:c.199-1G>C)	.	.	0.999986675681007	0.934
18	61027026	C	T	18	63359793	y	y	splicing	KDSR(NM_002035:exon4:c.199-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.199-1G>A;ENST00000326575:exon4:c.199-1G>A;ENST00000592327:exon4:c.199-1G>A)	.	.	0.999986675681007	0.934
18	61027027	T	A	18	63359794	y	y	splicing	KDSR(NM_002035:exon4:c.199-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.199-2A>T;ENST00000326575:exon4:c.199-2A>T;ENST00000592327:exon4:c.199-2A>T)	.	.	0.999989917668626	0.928
18	61027027	T	C	18	63359794	y	y	splicing	KDSR(NM_002035:exon4:c.199-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.199-2A>G;ENST00000326575:exon4:c.199-2A>G;ENST00000592327:exon4:c.199-2A>G)	.	.	0.999989917668626	0.928
18	61027027	T	G	18	63359794	y	y	splicing	KDSR(NM_002035:exon4:c.199-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon4:c.199-2A>C;ENST00000326575:exon4:c.199-2A>C;ENST00000592327:exon4:c.199-2A>C)	.	.	0.999989917668626	0.928
18	61027028	G	A	18	63359795	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.74875959166576E-4	0.026
18	61027028	G	C	18	63359795	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.97365783809183	0.872
18	61027028	G	T	18	63359795	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.460511177831009	0.548
18	61027029	A	C	18	63359796	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00159503216602771	0.026
18	61027029	A	G	18	63359796	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.03973448015339E-4	0.014
18	61027029	A	T	18	63359796	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.22254996837862E-4	0.01
18	61027030	A	C	18	63359797	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.996981151079949	0.88
18	61027030	A	G	18	63359797	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0474642608773981	0.184
18	61027030	A	T	18	63359797	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.99375798693143	0.886
18	61027031	A	C	18	63359798	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.951226294300213	0.796
18	61027031	A	G	18	63359798	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00106389538757621	0.032
18	61027031	A	T	18	63359798	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.969966011563905	0.766
18	61027032	G	A	18	63359799	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.94135915135943E-4	0.012
18	61027032	G	C	18	63359799	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0222828620723841	0.086
18	61027032	G	T	18	63359799	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0104494006444278	0.096
18	61027033	C	A	18	63359800	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.01070443713743E-5	0.066
18	61027033	C	G	18	63359800	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.01070443713743E-5	0.004
18	61027033	C	T	18	63359800	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.73887583953561E-4	0.056
18	61027034	A	C	18	63359801	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.996186454893831	0.878
18	61027034	A	G	18	63359801	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.122601961484883	0.336
18	61027034	A	T	18	63359801	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999969158537875	0.974
18	61027035	A	C	18	63359802	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999904529558392	0.98
18	61027035	A	G	18	63359802	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.23360794433383E-4	0.134
18	61027035	A	T	18	63359802	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.923050767550891	0.552
18	61027036	T	A	18	63359803	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.65464593402779E-5	0.038
18	61027036	T	C	18	63359803	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.84222272553651E-5	0.05
18	61027036	T	G	18	63359803	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.67101515674318E-5	0.032
18	61027037	A	C	18	63359804	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.997873567700743	0.882
18	61027037	A	G	18	63359804	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0618284521081156	0.318
18	61027037	A	T	18	63359804	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.9975521380919	0.84
18	61030004	A	C	18	63362771	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.20688792087982E-4	0.008
18	61030004	A	G	18	63362771	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.20688792087982E-4	0.008
18	61030004	A	T	18	63362771	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.20688792087982E-4	0.076
18	61030005	G	A	18	63362772	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.79454067661826E-5	0.022
18	61030005	G	C	18	63362772	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.40053381145528E-4	0.026
18	61030005	G	T	18	63362772	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.40053381145528E-4	0.008
18	61030006	C	A	18	63362773	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.34656971132871E-5	0.0
18	61030006	C	G	18	63362773	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.81764835966438E-4	0.008
18	61030006	C	T	18	63362773	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.93484071207928E-4	0.02
18	61030007	C	A	18	63362774	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.982484274536484	0.624
18	61030007	C	G	18	63362774	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.903002945932142	0.668
18	61030007	C	T	18	63362774	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.984371620274347	0.59
18	61030008	T	A	18	63362775	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0321439969256874	0.226
18	61030008	T	C	18	63362775	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.405589070911849	0.368
18	61030008	T	G	18	63362775	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0415310246845978	0.264
18	61030009	T	A	18	63362776	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.2073087140424	0.284
18	61030009	T	C	18	63362776	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	6.24001297803877E-4	0.07
18	61030009	T	G	18	63362776	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.285915010557338	0.284
18	61030010	A	C	18	63362777	y	y	splicing	KDSR(NM_002035:exon3:c.198+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.198+2T>G;ENST00000326575:exon3:c.198+2T>G;ENST00000592327:exon3:c.198+2T>G)	.	.	0.999988247793601	0.926
18	61030010	A	G	18	63362777	y	y	splicing	KDSR(NM_002035:exon3:c.198+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.198+2T>C;ENST00000326575:exon3:c.198+2T>C;ENST00000592327:exon3:c.198+2T>C)	.	.	0.98918007292081	0.65
18	61030010	A	T	18	63362777	y	y	splicing	KDSR(NM_002035:exon3:c.198+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.198+2T>A;ENST00000326575:exon3:c.198+2T>A;ENST00000592327:exon3:c.198+2T>A)	.	.	0.999988247793601	0.926
18	61030011	C	A	18	63362778	y	y	splicing	KDSR(NM_002035:exon3:c.198+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.198+1G>T;ENST00000326575:exon3:c.198+1G>T;ENST00000592327:exon3:c.198+1G>T)	.	.	0.999990361384395	0.938
18	61030011	C	G	18	63362778	y	y	splicing	KDSR(NM_002035:exon3:c.198+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.198+1G>C;ENST00000326575:exon3:c.198+1G>C;ENST00000592327:exon3:c.198+1G>C)	.	.	0.999990361384395	0.938
18	61030011	C	T	18	63362778	y	y	splicing	KDSR(NM_002035:exon3:c.198+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.198+1G>A;ENST00000326575:exon3:c.198+1G>A;ENST00000592327:exon3:c.198+1G>A)	.	.	0.999990361384395	0.938
18	61030012	C	A	18	63362779	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.G198T:p.E66D;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.G198T:p.E66D;ENSG00000119537:ENST00000406396:exon2:c.G198T:p.E66D;ENSG00000119537:ENST00000326575:exon2:c.G198T:p.E66D;	0.999352588282931	0.978
18	61030012	C	G	18	63362779	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.G198C:p.E66D;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.G198C:p.E66D;ENSG00000119537:ENST00000406396:exon2:c.G198C:p.E66D;ENSG00000119537:ENST00000326575:exon2:c.G198C:p.E66D;	0.999151418122676	0.91
18	61030012	C	T	18	63362779	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon2:c.G198A:p.E66E;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.G198A:p.E66E;ENSG00000119537:ENST00000406396:exon2:c.G198A:p.E66E;ENSG00000119537:ENST00000326575:exon2:c.G198A:p.E66E;	0.997848934606747	0.96
18	61030013	T	A	18	63362780	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.A197T:p.E66V;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.A197T:p.E66V;ENSG00000119537:ENST00000406396:exon2:c.A197T:p.E66V;ENSG00000119537:ENST00000326575:exon2:c.A197T:p.E66V;	0.972860473484781	0.82
18	61030013	T	C	18	63362780	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.A197G:p.E66G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.A197G:p.E66G;ENSG00000119537:ENST00000406396:exon2:c.A197G:p.E66G;ENSG00000119537:ENST00000326575:exon2:c.A197G:p.E66G;	0.995946538049293	0.904
18	61030013	T	G	18	63362780	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.A197C:p.E66A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.A197C:p.E66A;ENSG00000119537:ENST00000406396:exon2:c.A197C:p.E66A;ENSG00000119537:ENST00000326575:exon2:c.A197C:p.E66A;	0.989361173772595	0.904
18	61030014	C	A	18	63362781	y	y	exonic	KDSR	stopgain SNV	KDSR:NM_002035:exon2:c.G196T:p.E66X;	exonic	ENSG00000119537	stopgain SNV	ENSG00000119537:ENST00000592327:exon2:c.G196T:p.E66X;ENSG00000119537:ENST00000406396:exon2:c.G196T:p.E66X;ENSG00000119537:ENST00000326575:exon2:c.G196T:p.E66X;	0.990118199902127	0.882
18	61030014	C	G	18	63362781	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.G196C:p.E66Q;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.G196C:p.E66Q;ENSG00000119537:ENST00000406396:exon2:c.G196C:p.E66Q;ENSG00000119537:ENST00000326575:exon2:c.G196C:p.E66Q;	0.964160354229872	0.778
18	61030014	C	T	18	63362781	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.G196A:p.E66K;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.G196A:p.E66K;ENSG00000119537:ENST00000406396:exon2:c.G196A:p.E66K;ENSG00000119537:ENST00000326575:exon2:c.G196A:p.E66K;	0.96016315069113	0.82
18	61030100	A	C	18	63362867	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.T110G:p.V37G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.T110G:p.V37G;ENSG00000119537:ENST00000406396:exon2:c.T110G:p.V37G;ENSG00000119537:ENST00000326575:exon2:c.T110G:p.V37G;	0.360000721192798	0.61
18	61030100	A	G	18	63362867	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.T110C:p.V37A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.T110C:p.V37A;ENSG00000119537:ENST00000406396:exon2:c.T110C:p.V37A;ENSG00000119537:ENST00000326575:exon2:c.T110C:p.V37A;	0.38734578566367	0.614
18	61030100	A	T	18	63362867	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.T110A:p.V37D;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.T110A:p.V37D;ENSG00000119537:ENST00000406396:exon2:c.T110A:p.V37D;ENSG00000119537:ENST00000326575:exon2:c.T110A:p.V37D;	0.360000721192798	0.606
18	61030101	C	A	18	63362868	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.G109T:p.V37F;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.G109T:p.V37F;ENSG00000119537:ENST00000406396:exon2:c.G109T:p.V37F;ENSG00000119537:ENST00000326575:exon2:c.G109T:p.V37F;	0.99980769821544	0.968
18	61030101	C	G	18	63362868	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.G109C:p.V37L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.G109C:p.V37L;ENSG00000119537:ENST00000406396:exon2:c.G109C:p.V37L;ENSG00000119537:ENST00000326575:exon2:c.G109C:p.V37L;	0.999731908290587	0.93
18	61030101	C	T	18	63362868	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon2:c.G109A:p.V37I;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon2:c.G109A:p.V37I;ENSG00000119537:ENST00000406396:exon2:c.G109A:p.V37I;ENSG00000119537:ENST00000326575:exon2:c.G109A:p.V37I;	0.996853531799835	0.886
18	61030102	C	A	18	63362869	y	y	splicing	KDSR(NM_002035:exon3:c.109-1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.109-1G>T;ENST00000326575:exon3:c.109-1G>T;ENST00000592327:exon3:c.109-1G>T)	.	.	0.999990361384395	0.938
18	61030102	C	G	18	63362869	y	y	splicing	KDSR(NM_002035:exon3:c.109-1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.109-1G>C;ENST00000326575:exon3:c.109-1G>C;ENST00000592327:exon3:c.109-1G>C)	.	.	0.999990361384395	0.938
18	61030102	C	T	18	63362869	y	y	splicing	KDSR(NM_002035:exon3:c.109-1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.109-1G>A;ENST00000326575:exon3:c.109-1G>A;ENST00000592327:exon3:c.109-1G>A)	.	.	0.999990361384395	0.938
18	61030103	T	A	18	63362870	y	y	splicing	KDSR(NM_002035:exon3:c.109-2A>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.109-2A>T;ENST00000326575:exon3:c.109-2A>T;ENST00000592327:exon3:c.109-2A>T)	.	.	0.999988247793601	0.932
18	61030103	T	C	18	63362870	y	y	splicing	KDSR(NM_002035:exon3:c.109-2A>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.109-2A>G;ENST00000326575:exon3:c.109-2A>G;ENST00000592327:exon3:c.109-2A>G)	.	.	0.999988247793601	0.932
18	61030103	T	G	18	63362870	y	y	splicing	KDSR(NM_002035:exon3:c.109-2A>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon3:c.109-2A>C;ENST00000326575:exon3:c.109-2A>C;ENST00000592327:exon3:c.109-2A>C)	.	.	0.999988247793601	0.932
18	61030104	A	C	18	63362871	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.787745618910535	0.608
18	61030104	A	G	18	63362871	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.70380198906114E-5	0.012
18	61030104	A	T	18	63362871	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00930481262128648	0.224
18	61030105	A	C	18	63362872	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	3.13189301422002E-4	0.066
18	61030105	A	G	18	63362872	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.04712467767464E-4	0.012
18	61030105	A	T	18	63362872	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.25370660378497E-4	0.026
18	61030106	A	C	18	63362873	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.954311366521802	0.67
18	61030106	A	G	18	63362873	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	8.58633332900978E-4	0.156
18	61030106	A	T	18	63362873	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.739528309328219	0.606
18	61030107	A	C	18	63362874	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.353145799351786	0.472
18	61030107	A	G	18	63362874	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.12121778328521E-5	0.038
18	61030107	A	T	18	63362874	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.271927383882709	0.412
18	61030108	C	A	18	63362875	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.93024715779422E-5	0.0
18	61030108	C	G	18	63362875	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.93024715779422E-5	0.0
18	61030108	C	T	18	63362875	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.76261978874883E-5	0.002
18	61030109	A	C	18	63362876	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00598494732310358	0.272
18	61030109	A	G	18	63362876	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.03304871953551E-4	0.006
18	61030109	A	T	18	63362876	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999144202715071	0.938
18	61030110	A	C	18	63362877	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0348795338987288	0.278
18	61030110	A	G	18	63362877	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	9.2225808188914E-6	0.068
18	61030110	A	T	18	63362877	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0326753673889623	0.298
18	61030111	A	C	18	63362878	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0239581284318807	0.332
18	61030111	A	G	18	63362878	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.85597480388603E-5	0.074
18	61030111	A	T	18	63362878	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0437131608337057	0.318
18	61030112	A	C	18	63362879	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999349597053901	0.872
18	61030112	A	G	18	63362879	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0118504392610591	0.198
18	61030112	A	T	18	63362879	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.48836450955617	0.528
18	61030113	T	A	18	63362880	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	2.40272537875381E-5	0.062
18	61030113	T	C	18	63362880	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	4.18976524145166E-5	0.118
18	61030113	T	G	18	63362880	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	1.10095347603957E-5	0.066
18	61034236	C	A	18	63367003	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00844369436908525	0.088
18	61034236	C	G	18	63367003	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.00717714377327609	0.062
18	61034236	C	T	18	63367003	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.0099561024090593	0.132
18	61034237	C	A	18	63367004	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.295245949580568	0.416
18	61034237	C	G	18	63367004	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.398393393522858	0.526
18	61034237	C	T	18	63367004	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.601864428554036	0.574
18	61034238	A	C	18	63367005	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.991816544916073	0.788
18	61034238	A	G	18	63367005	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.995127329010748	0.824
18	61034238	A	T	18	63367005	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.997632796462053	0.81
18	61034239	C	A	18	63367006	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999993655220337	0.942
18	61034239	C	G	18	63367006	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999990194399342	0.976
18	61034239	C	T	18	63367006	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999981132083357	0.928
18	61034240	T	A	18	63367007	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999751978561718	0.882
18	61034240	T	C	18	63367007	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999199913796407	0.86
18	61034240	T	G	18	63367007	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.999034655810617	0.924
18	61034241	C	A	18	63367008	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.998599093751734	0.93
18	61034241	C	G	18	63367008	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.998027145587772	0.924
18	61034241	C	T	18	63367008	y	y	intronic	KDSR	.	.	intronic	ENSG00000119537	.	.	0.305494688628516	0.34
18	61034242	A	C	18	63367009	y	y	splicing	KDSR(NM_002035:exon2:c.108+2T>G)	.	.	splicing	ENSG00000119537(ENST00000406396:exon2:c.108+2T>G;ENST00000326575:exon2:c.108+2T>G;ENST00000592327:exon2:c.108+2T>G)	.	.	0.999994723900236	0.93
18	61034242	A	G	18	63367009	y	y	splicing	KDSR(NM_002035:exon2:c.108+2T>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon2:c.108+2T>C;ENST00000326575:exon2:c.108+2T>C;ENST00000592327:exon2:c.108+2T>C)	.	.	0.999952841816934	0.856
18	61034242	A	T	18	63367009	y	y	splicing	KDSR(NM_002035:exon2:c.108+2T>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon2:c.108+2T>A;ENST00000326575:exon2:c.108+2T>A;ENST00000592327:exon2:c.108+2T>A)	.	.	0.999994723900236	0.93
18	61034243	C	A	18	63367010	y	y	splicing	KDSR(NM_002035:exon2:c.108+1G>T)	.	.	splicing	ENSG00000119537(ENST00000406396:exon2:c.108+1G>T;ENST00000326575:exon2:c.108+1G>T;ENST00000592327:exon2:c.108+1G>T)	.	.	0.999990155693597	0.928
18	61034243	C	G	18	63367010	y	y	splicing	KDSR(NM_002035:exon2:c.108+1G>C)	.	.	splicing	ENSG00000119537(ENST00000406396:exon2:c.108+1G>C;ENST00000326575:exon2:c.108+1G>C;ENST00000592327:exon2:c.108+1G>C)	.	.	0.999990155693597	0.928
18	61034243	C	T	18	63367010	y	y	splicing	KDSR(NM_002035:exon2:c.108+1G>A)	.	.	splicing	ENSG00000119537(ENST00000406396:exon2:c.108+1G>A;ENST00000326575:exon2:c.108+1G>A;ENST00000592327:exon2:c.108+1G>A)	.	.	0.999990155693597	0.928
18	61034244	C	A	18	63367011	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon1:c.G108T:p.V36V;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.G108T:p.V36V;ENSG00000119537:ENST00000406396:exon1:c.G108T:p.V36V;ENSG00000119537:ENST00000326575:exon1:c.G108T:p.V36V;	0.999942750664615	0.99
18	61034244	C	G	18	63367011	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon1:c.G108C:p.V36V;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.G108C:p.V36V;ENSG00000119537:ENST00000406396:exon1:c.G108C:p.V36V;ENSG00000119537:ENST00000326575:exon1:c.G108C:p.V36V;	0.999972063995774	0.922
18	61034244	C	T	18	63367011	y	y	exonic	KDSR	synonymous SNV	KDSR:NM_002035:exon1:c.G108A:p.V36V;	exonic	ENSG00000119537	synonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.G108A:p.V36V;ENSG00000119537:ENST00000406396:exon1:c.G108A:p.V36V;ENSG00000119537:ENST00000326575:exon1:c.G108A:p.V36V;	0.999940344585646	0.982
18	61034245	A	C	18	63367012	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon1:c.T107G:p.V36G;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.T107G:p.V36G;ENSG00000119537:ENST00000406396:exon1:c.T107G:p.V36G;ENSG00000119537:ENST00000326575:exon1:c.T107G:p.V36G;	0.909002622517081	0.672
18	61034245	A	G	18	63367012	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon1:c.T107C:p.V36A;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.T107C:p.V36A;ENSG00000119537:ENST00000406396:exon1:c.T107C:p.V36A;ENSG00000119537:ENST00000326575:exon1:c.T107C:p.V36A;	0.843283950945831	0.656
18	61034245	A	T	18	63367012	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon1:c.T107A:p.V36E;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.T107A:p.V36E;ENSG00000119537:ENST00000406396:exon1:c.T107A:p.V36E;ENSG00000119537:ENST00000326575:exon1:c.T107A:p.V36E;	0.583370597566544	0.486
18	61034246	C	A	18	63367013	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon1:c.G106T:p.V36L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.G106T:p.V36L;ENSG00000119537:ENST00000406396:exon1:c.G106T:p.V36L;ENSG00000119537:ENST00000326575:exon1:c.G106T:p.V36L;	0.659441464267445	0.766
18	61034246	C	G	18	63367013	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon1:c.G106C:p.V36L;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.G106C:p.V36L;ENSG00000119537:ENST00000406396:exon1:c.G106C:p.V36L;ENSG00000119537:ENST00000326575:exon1:c.G106C:p.V36L;	0.219700819943019	0.46
18	61034246	C	T	18	63367013	y	y	exonic	KDSR	nonsynonymous SNV	KDSR:NM_002035:exon1:c.G106A:p.V36M;	exonic	ENSG00000119537	nonsynonymous SNV	ENSG00000119537:ENST00000592327:exon1:c.G106A:p.V36M;ENSG00000119537:ENST00000406396:exon1:c.G106A:p.V36M;ENSG00000119537:ENST00000326575:exon1:c.G106A:p.V36M;	0.340657567654569	0.628
18	61058308	G	A	18	63391075	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon11:c.C1235T:p.S412L;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon11:c.C1235T:p.S412L;	0.0180412507694275	0.228
18	61058308	G	C	18	63391075	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon11:c.C1235G:p.S412W;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon11:c.C1235G:p.S412W;	0.0202950581789651	0.21
18	61058308	G	T	18	63391075	y	y	exonic	VPS4B	stopgain SNV	VPS4B:NM_004869:exon11:c.C1235A:p.S412X;	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000238497:exon11:c.C1235A:p.S412X;	0.141758913633534	0.412
18	61058309	A	C	18	63391076	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon11:c.T1234G:p.S412A;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon11:c.T1234G:p.S412A;	7.19382601690168E-4	0.116
18	61058309	A	G	18	63391076	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon11:c.T1234C:p.S412P;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon11:c.T1234C:p.S412P;	3.03365222261332E-4	0.018
18	61058309	A	T	18	63391076	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon11:c.T1234A:p.S412T;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon11:c.T1234A:p.S412T;	2.76845922824133E-4	0.0
18	61058310	C	A	18	63391077	y	y	splicing	VPS4B(NM_004869:exon12:c.1234-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon12:c.1234-1G>T)	.	.	0.999990361384395	0.938
18	61058310	C	G	18	63391077	y	y	splicing	VPS4B(NM_004869:exon12:c.1234-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon12:c.1234-1G>C)	.	.	0.999990361384395	0.938
18	61058310	C	T	18	63391077	y	y	splicing	VPS4B(NM_004869:exon12:c.1234-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon12:c.1234-1G>A)	.	.	0.999990361384395	0.938
18	61058311	T	A	18	63391078	y	y	splicing	VPS4B(NM_004869:exon12:c.1234-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon12:c.1234-2A>T)	.	.	0.999988247793601	0.93
18	61058311	T	C	18	63391078	y	y	splicing	VPS4B(NM_004869:exon12:c.1234-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon12:c.1234-2A>G)	.	.	0.999988247793601	0.93
18	61058311	T	G	18	63391078	y	y	splicing	VPS4B(NM_004869:exon12:c.1234-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon12:c.1234-2A>C)	.	.	0.999988247793601	0.93
18	61058312	G	A	18	63391079	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.985202392695779	0.352
18	61058312	G	C	18	63391079	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999956772632277	0.964
18	61058312	G	T	18	63391079	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999930573566993	0.952
18	61058313	T	A	18	63391080	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.67398115145807E-4	0.116
18	61058313	T	C	18	63391080	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.85850379946599E-4	0.16
18	61058313	T	G	18	63391080	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.11872610051348E-4	0.006
18	61058314	C	A	18	63391081	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.7500228358244E-5	0.0
18	61058314	C	G	18	63391081	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.18289105669248E-5	0.0
18	61058314	C	T	18	63391081	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.92000744232489E-5	0.0
18	61058315	A	C	18	63391082	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00158377458752029	0.088
18	61058315	A	G	18	63391082	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.67308261856812E-4	0.006
18	61058315	A	T	18	63391082	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999771401707938	0.954
18	61058316	G	A	18	63391083	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.49967903611422E-4	0.0
18	61058316	G	C	18	63391083	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00193814369279392	0.046
18	61058316	G	T	18	63391083	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00274900955899554	0.102
18	61058317	G	A	18	63391084	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.55180012603319E-5	0.02
18	61058317	G	C	18	63391084	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00125918118961309	0.076
18	61058317	G	T	18	63391084	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.02720692914126E-4	0.05
18	61058318	G	A	18	63391085	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.27710111284455E-5	0.0
18	61058318	G	C	18	63391085	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00106201361931016	0.124
18	61058318	G	T	18	63391085	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00497929180254365	0.174
18	61058319	A	C	18	63391086	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.51309693755207E-4	0.046
18	61058319	A	G	18	63391086	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.82131375719963E-4	0.0
18	61058319	A	T	18	63391086	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.74397866686188E-4	0.044
18	61058320	A	C	18	63391087	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00680219021986449	0.118
18	61058320	A	G	18	63391087	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.01484529578183E-4	0.03
18	61058320	A	T	18	63391087	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00460983081325134	0.148
18	61058321	A	C	18	63391088	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00761673003128292	0.19
18	61058321	A	G	18	63391088	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.82779000045044E-4	0.008
18	61058321	A	T	18	63391088	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00187257061579078	0.158
18	61060634	T	A	18	63393401	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.30587231265315E-5	0.048
18	61060634	T	C	18	63393401	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.00859722192214E-5	0.052
18	61060634	T	G	18	63393401	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.00859722192214E-5	0.042
18	61060635	T	A	18	63393402	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.23989208359229E-5	0.03
18	61060635	T	C	18	63393402	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.23989208359229E-5	0.06
18	61060635	T	G	18	63393402	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.23989208359229E-5	0.056
18	61060636	T	A	18	63393403	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.16141450829541E-4	0.072
18	61060636	T	C	18	63393403	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.80619994929123E-4	0.022
18	61060636	T	G	18	63393403	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.69822870977622E-4	0.12
18	61060637	C	A	18	63393404	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999222849269962	0.914
18	61060637	C	G	18	63393404	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999149102742066	0.914
18	61060637	C	T	18	63393404	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998523010098153	0.926
18	61060638	A	C	18	63393405	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.22330948287744E-5	0.008
18	61060638	A	G	18	63393405	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.79189215334608E-5	0.086
18	61060638	A	T	18	63393405	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.89901391783687E-5	0.022
18	61060639	A	C	18	63393406	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.8139883938954E-4	0.076
18	61060639	A	G	18	63393406	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0192819741823569	0.182
18	61060639	A	T	18	63393406	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.64775156721062E-4	0.122
18	61060640	A	C	18	63393407	y	y	splicing	VPS4B(NM_004869:exon11:c.1233+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1233+2T>G)	.	.	0.999964748962723	0.888
18	61060640	A	G	18	63393407	y	y	splicing	VPS4B(NM_004869:exon11:c.1233+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1233+2T>C)	.	.	0.999799816477661	0.83
18	61060640	A	T	18	63393407	y	y	splicing	VPS4B(NM_004869:exon11:c.1233+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1233+2T>A)	.	.	0.999964748962723	0.89
18	61060641	C	A	18	63393408	y	y	splicing	VPS4B(NM_004869:exon11:c.1233+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1233+1G>T)	.	.	0.999990560002349	0.872
18	61060641	C	G	18	63393408	y	y	splicing	VPS4B(NM_004869:exon11:c.1233+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1233+1G>C)	.	.	0.999990560002349	0.872
18	61060641	C	T	18	63393408	y	y	splicing	VPS4B(NM_004869:exon11:c.1233+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1233+1G>A)	.	.	0.999988611747585	0.872
18	61060642	C	A	18	63393409	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.G1233T:p.M411I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.G1233T:p.M411I;	0.999904820738818	0.938
18	61060642	C	G	18	63393409	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.G1233C:p.M411I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.G1233C:p.M411I;	0.9999449227179	0.928
18	61060642	C	T	18	63393409	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.G1233A:p.M411I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.G1233A:p.M411I;	0.999952470628212	0.948
18	61060643	A	C	18	63393410	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.T1232G:p.M411R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.T1232G:p.M411R;	0.366511582762341	0.286
18	61060643	A	G	18	63393410	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.T1232C:p.M411T;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.T1232C:p.M411T;	0.173247153904733	0.408
18	61060643	A	T	18	63393410	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.T1232A:p.M411K;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.T1232A:p.M411K;	0.00704321118982484	0.214
18	61060644	T	A	18	63393411	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.A1231T:p.M411L;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.A1231T:p.M411L;	0.930305465211191	0.62
18	61060644	T	C	18	63393411	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.A1231G:p.M411V;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.A1231G:p.M411V;	0.138770450225338	0.244
18	61060644	T	G	18	63393411	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.A1231C:p.M411L;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.A1231C:p.M411L;	0.0141508265080228	0.086
18	61060781	A	C	18	63393548	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.T1094G:p.V365G;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.T1094G:p.V365G;	0.0115526813478829	0.15
18	61060781	A	G	18	63393548	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.T1094C:p.V365A;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.T1094C:p.V365A;	0.0120203487824903	0.23
18	61060781	A	T	18	63393548	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.T1094A:p.V365D;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.T1094A:p.V365D;	0.010167101390044	0.118
18	61060782	C	A	18	63393549	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.G1093T:p.V365F;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.G1093T:p.V365F;	0.999832626733735	0.982
18	61060782	C	G	18	63393549	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.G1093C:p.V365L;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.G1093C:p.V365L;	0.999806994702291	0.984
18	61060782	C	T	18	63393549	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon10:c.G1093A:p.V365I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon10:c.G1093A:p.V365I;	0.998966623707889	0.902
18	61060783	C	A	18	63393550	y	y	splicing	VPS4B(NM_004869:exon11:c.1093-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1093-1G>T;ENST00000588059:exon9:c.943-1G>T)	.	.	0.999986675681007	0.928
18	61060783	C	G	18	63393550	y	y	splicing	VPS4B(NM_004869:exon11:c.1093-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1093-1G>C;ENST00000588059:exon9:c.943-1G>C)	.	.	0.999986675681007	0.928
18	61060783	C	T	18	63393550	y	y	splicing	VPS4B(NM_004869:exon11:c.1093-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1093-1G>A;ENST00000588059:exon9:c.943-1G>A)	.	.	0.999986675681007	0.928
18	61060784	T	A	18	63393551	y	y	splicing	VPS4B(NM_004869:exon11:c.1093-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1093-2A>T;ENST00000588059:exon9:c.943-2A>T)	.	.	0.999988247793601	0.928
18	61060784	T	C	18	63393551	y	y	splicing	VPS4B(NM_004869:exon11:c.1093-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1093-2A>G;ENST00000588059:exon9:c.943-2A>G)	.	.	0.999988247793601	0.928
18	61060784	T	G	18	63393551	y	y	splicing	VPS4B(NM_004869:exon11:c.1093-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon11:c.1093-2A>C;ENST00000588059:exon9:c.943-2A>C)	.	.	0.999988247793601	0.928
18	61060785	G	A	18	63393552	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.090771965687131	0.22
18	61060785	G	C	18	63393552	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.992957341446812	0.866
18	61060785	G	T	18	63393552	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.880429866948268	0.552
18	61060786	A	C	18	63393553	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.28511936250218E-4	0.006
18	61060786	A	G	18	63393553	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.64679732959345E-5	0.012
18	61060786	A	T	18	63393553	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.37402830943924E-4	0.038
18	61060787	A	C	18	63393554	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.993655087150207	0.876
18	61060787	A	G	18	63393554	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.161244683620019	0.354
18	61060787	A	T	18	63393554	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998440640646132	0.9
18	61060788	A	C	18	63393555	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999947931431522	0.976
18	61060788	A	G	18	63393555	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.39111402959606E-4	0.018
18	61060788	A	T	18	63393555	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.606509415031467	0.632
18	61060789	T	A	18	63393556	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.66532238143523E-4	0.01
18	61060789	T	C	18	63393556	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.79821774553033E-4	0.02
18	61060789	T	G	18	63393556	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.95301805128637E-4	0.052
18	61060790	A	C	18	63393557	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.014827149984295	0.248
18	61060790	A	G	18	63393557	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.70893042518915E-4	0.02
18	61060790	A	T	18	63393557	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0790346133599709	0.112
18	61060791	A	C	18	63393558	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.228823436082015	0.418
18	61060791	A	G	18	63393558	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.99573623619555E-4	0.134
18	61060791	A	T	18	63393558	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.502944476777577	0.416
18	61060792	A	C	18	63393559	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.991463028530331	0.78
18	61060792	A	G	18	63393559	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0603174388458718	0.284
18	61060792	A	T	18	63393559	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.995936472294646	0.856
18	61060793	C	A	18	63393560	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.15558235072773E-5	0.004
18	61060793	C	G	18	63393560	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.65481347663292E-5	0.004
18	61060793	C	T	18	63393560	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.16782783350029E-4	0.148
18	61060794	A	C	18	63393561	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.496937519183527	0.606
18	61060794	A	G	18	63393561	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.46131391757165E-4	0.014
18	61060794	A	T	18	63393561	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999948946993265	0.984
18	61064259	T	A	18	63397026	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.02189907335699E-4	0.068
18	61064259	T	C	18	63397026	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.02189907335699E-4	0.004
18	61064259	T	G	18	63397026	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.02189907335699E-4	0.004
18	61064260	G	A	18	63397027	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.39252134329056E-4	0.006
18	61064260	G	C	18	63397027	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.5828886023085E-4	0.002
18	61064260	G	T	18	63397027	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.39252134329056E-4	0.008
18	61064261	A	C	18	63397028	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.49029408893881E-4	0.044
18	61064261	A	G	18	63397028	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00144623449699187	0.048
18	61064261	A	T	18	63397028	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00124691402483827	0.08
18	61064262	C	A	18	63397029	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.858168281205719	0.592
18	61064262	C	G	18	63397029	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.744915836338857	0.54
18	61064262	C	T	18	63397029	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.692541342200066	0.61
18	61064263	T	A	18	63397030	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.138357412741106	0.262
18	61064263	T	C	18	63397030	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.120536808975856	0.28
18	61064263	T	G	18	63397030	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.210602620200599	0.318
18	61064264	T	A	18	63397031	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.214478450715169	0.412
18	61064264	T	C	18	63397031	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.5761815097166E-4	0.036
18	61064264	T	G	18	63397031	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.194262114050358	0.446
18	61064265	A	C	18	63397032	y	y	splicing	VPS4B(NM_004869:exon10:c.1092+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.1092+2T>G;ENST00000588059:exon8:c.942+2T>G)	.	.	0.999988247793601	0.932
18	61064265	A	G	18	63397032	y	y	splicing	VPS4B(NM_004869:exon10:c.1092+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.1092+2T>C;ENST00000588059:exon8:c.942+2T>C)	.	.	0.996046924575706	0.698
18	61064265	A	T	18	63397032	y	y	splicing	VPS4B(NM_004869:exon10:c.1092+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.1092+2T>A;ENST00000588059:exon8:c.942+2T>A)	.	.	0.999988247793601	0.932
18	61064266	C	A	18	63397033	y	y	splicing	VPS4B(NM_004869:exon10:c.1092+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.1092+1G>T;ENST00000588059:exon8:c.942+1G>T)	.	.	0.999990361384395	0.938
18	61064266	C	G	18	63397033	y	y	splicing	VPS4B(NM_004869:exon10:c.1092+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.1092+1G>C;ENST00000588059:exon8:c.942+1G>C)	.	.	0.999990361384395	0.938
18	61064266	C	T	18	63397033	y	y	splicing	VPS4B(NM_004869:exon10:c.1092+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.1092+1G>A;ENST00000588059:exon8:c.942+1G>A)	.	.	0.999990361384395	0.938
18	61064267	C	A	18	63397034	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.G1092T:p.K364N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.G1092T:p.K364N;	0.99982639850481	0.924
18	61064267	C	G	18	63397034	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.G1092C:p.K364N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.G1092C:p.K364N;	0.998974787060577	0.9
18	61064267	C	T	18	63397034	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon9:c.G1092A:p.K364K;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.G1092A:p.K364K;	0.987786460678873	0.646
18	61064268	T	A	18	63397035	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.A1091T:p.K364M;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.A1091T:p.K364M;	0.354850204741711	0.46
18	61064268	T	C	18	63397035	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.A1091G:p.K364R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.A1091G:p.K364R;	0.135809025951424	0.192
18	61064268	T	G	18	63397035	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.A1091C:p.K364T;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.A1091C:p.K364T;	0.107158282456093	0.446
18	61064269	T	A	18	63397036	y	y	exonic	VPS4B	stopgain SNV	VPS4B:NM_004869:exon9:c.A1090T:p.K364X;	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000238497:exon9:c.A1090T:p.K364X;	0.984935311945926	0.662
18	61064269	T	C	18	63397036	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.A1090G:p.K364E;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.A1090G:p.K364E;	0.412753666510042	0.498
18	61064269	T	G	18	63397036	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.A1090C:p.K364Q;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.A1090C:p.K364Q;	0.0765325124725915	0.386
18	61064485	A	C	18	63397252	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.T874G:p.F292V;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.T874G:p.F292V;	0.965322113697632	0.55
18	61064485	A	G	18	63397252	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.T874C:p.F292L;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.T874C:p.F292L;	0.917055405007594	0.616
18	61064485	A	T	18	63397252	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.T874A:p.F292I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.T874A:p.F292I;	0.959574380690612	0.556
18	61064486	T	A	18	63397253	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.A873T:p.R291S;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.A873T:p.R291S;	0.00301803134664891	0.16
18	61064486	T	C	18	63397253	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon9:c.A873G:p.R291R;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.A873G:p.R291R;	1.45789645335741E-4	0.012
18	61064486	T	G	18	63397253	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon9:c.A873C:p.R291S;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon9:c.A873C:p.R291S;	0.00448615761908372	0.174
18	61064487	C	A	18	63397254	y	y	splicing	VPS4B(NM_004869:exon10:c.873-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.873-1G>T;ENST00000588059:exon8:c.723-1G>T)	.	.	0.999990361384395	0.948
18	61064487	C	G	18	63397254	y	y	splicing	VPS4B(NM_004869:exon10:c.873-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.873-1G>C;ENST00000588059:exon8:c.723-1G>C)	.	.	0.999990361384395	0.948
18	61064487	C	T	18	63397254	y	y	splicing	VPS4B(NM_004869:exon10:c.873-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.873-1G>A;ENST00000588059:exon8:c.723-1G>A)	.	.	0.999990361384395	0.948
18	61064488	T	A	18	63397255	y	y	splicing	VPS4B(NM_004869:exon10:c.873-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.873-2A>T;ENST00000588059:exon8:c.723-2A>T)	.	.	0.999988247793601	0.95
18	61064488	T	C	18	63397255	y	y	splicing	VPS4B(NM_004869:exon10:c.873-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.873-2A>G;ENST00000588059:exon8:c.723-2A>G)	.	.	0.999988247793601	0.95
18	61064488	T	G	18	63397255	y	y	splicing	VPS4B(NM_004869:exon10:c.873-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon10:c.873-2A>C;ENST00000588059:exon8:c.723-2A>C)	.	.	0.999988247793601	0.95
18	61064489	T	A	18	63397256	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.19786073091751E-5	0.006
18	61064489	T	C	18	63397256	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.156261492304381	0.422
18	61064489	T	G	18	63397256	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.65605601076762E-5	0.094
18	61064490	A	C	18	63397257	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.99508078116E-4	0.028
18	61064490	A	G	18	63397257	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.43536326442495E-4	0.066
18	61064490	A	T	18	63397257	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.60126713094734E-4	0.002
18	61064491	A	C	18	63397258	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.375999674708754	0.494
18	61064491	A	G	18	63397258	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0820243095345667	0.258
18	61064491	A	T	18	63397258	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.203161315039855	0.478
18	61064492	A	C	18	63397259	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.018350950848619	0.236
18	61064492	A	G	18	63397259	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.12046472934269E-4	0.026
18	61064492	A	T	18	63397259	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00641574737922199	0.196
18	61064493	A	C	18	63397260	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00682166923182601	0.186
18	61064493	A	G	18	63397260	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.09505128735687E-4	0.054
18	61064493	A	T	18	63397260	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00733395746589378	0.166
18	61064494	G	A	18	63397261	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.42601325257705E-5	0.0
18	61064494	G	C	18	63397261	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.91681948118641E-4	0.01
18	61064494	G	T	18	63397261	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00116900298310523	0.104
18	61064495	A	C	18	63397262	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0128780399076189	0.19
18	61064495	A	G	18	63397262	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.22684185859843E-4	0.07
18	61064495	A	T	18	63397262	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0133610639231746	0.266
18	61064496	G	A	18	63397263	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.93506947321346E-5	0.0
18	61064496	G	C	18	63397263	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.28898449289546E-4	0.032
18	61064496	G	T	18	63397263	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.90811865786643E-5	0.034
18	61064497	A	C	18	63397264	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0449781745088399	0.38
18	61064497	A	G	18	63397264	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00482249920468699	0.158
18	61064497	A	T	18	63397264	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.27356076726507	0.468
18	61064498	A	C	18	63397265	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.34377103448947E-4	0.082
18	61064498	A	G	18	63397265	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.28504216500648E-5	0.078
18	61064498	A	T	18	63397265	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.30535296501153E-4	0.068
18	61066467	T	A	18	63399234	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.17628836876554E-4	0.0
18	61066467	T	C	18	63399234	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.03765417231877E-5	0.0
18	61066467	T	G	18	63399234	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.03765417231877E-5	0.0
18	61066468	A	C	18	63399235	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00258897020080919	0.012
18	61066468	A	G	18	63399235	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.40960925182419E-4	0.012
18	61066468	A	T	18	63399235	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.89753169067235E-4	0.008
18	61066469	T	A	18	63399236	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.61465250606455E-4	0.012
18	61066469	T	C	18	63399236	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.53861201064186E-4	0.114
18	61066469	T	G	18	63399236	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.99949174463403E-4	0.072
18	61066470	C	A	18	63399237	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999908592937505	0.936
18	61066470	C	G	18	63399237	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.980371250481364	0.838
18	61066470	C	T	18	63399237	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.987572767981746	0.868
18	61066471	C	A	18	63399238	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.00839629187732E-5	0.006
18	61066471	C	G	18	63399238	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.32665351136747E-5	0.008
18	61066471	C	T	18	63399238	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.0246645730156E-4	0.04
18	61066472	T	A	18	63399239	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.997193492635877	0.87
18	61066472	T	C	18	63399239	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.983411157162187	0.804
18	61066472	T	G	18	63399239	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.994281573550853	0.856
18	61066473	A	C	18	63399240	y	y	splicing	VPS4B(NM_004869:exon9:c.872+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.872+2T>G)	.	.	0.999988247793601	0.922
18	61066473	A	G	18	63399240	y	y	splicing	VPS4B(NM_004869:exon9:c.872+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.872+2T>C)	.	.	0.99340600729494	0.678
18	61066473	A	T	18	63399240	y	y	splicing	VPS4B(NM_004869:exon9:c.872+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.872+2T>A)	.	.	0.999988247793601	0.922
18	61066474	C	A	18	63399241	y	y	splicing	VPS4B(NM_004869:exon9:c.872+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.872+1G>T)	.	.	0.999990361384395	0.932
18	61066474	C	G	18	63399241	y	y	splicing	VPS4B(NM_004869:exon9:c.872+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.872+1G>C)	.	.	0.999990361384395	0.932
18	61066474	C	T	18	63399241	y	y	splicing	VPS4B(NM_004869:exon9:c.872+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.872+1G>A)	.	.	0.999990361384395	0.932
18	61066475	C	A	18	63399242	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon8:c.G872T:p.R291I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G872T:p.R291I;	0.999987219666871	1.0
18	61066475	C	G	18	63399242	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon8:c.G872C:p.R291T;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G872C:p.R291T;	0.999991370704268	0.998
18	61066475	C	T	18	63399242	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon8:c.G872A:p.R291K;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G872A:p.R291K;	0.99998788615479	0.992
18	61066476	T	A	18	63399243	y	y	exonic	VPS4B	stopgain SNV	VPS4B:NM_004869:exon8:c.A871T:p.R291X;	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000238497:exon8:c.A871T:p.R291X;	0.999939005587855	0.988
18	61066476	T	C	18	63399243	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon8:c.A871G:p.R291G;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.A871G:p.R291G;	0.999958723867121	0.994
18	61066476	T	G	18	63399243	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon8:c.A871C:p.R291R;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.A871C:p.R291R;	0.998835265696353	0.916
18	61066477	T	A	18	63399244	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon8:c.A870T:p.R290R;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.A870T:p.R290R;	0.667462874452929	0.594
18	61066477	T	C	18	63399244	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon8:c.A870G:p.R290R;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.A870G:p.R290R;	0.0081361723102628	0.124
18	61066477	T	G	18	63399244	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon8:c.A870C:p.R290R;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.A870C:p.R290R;	0.00118929668834641	0.03
18	61066555	C	A	18	63399322	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon8:c.G792T:p.G264G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G792T:p.G264G;	6.76016377566282E-5	0.026
18	61066555	C	G	18	63399322	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon8:c.G792C:p.G264G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G792C:p.G264G;	6.15703338826892E-5	0.0
18	61066555	C	T	18	63399322	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon8:c.G792A:p.G264G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G792A:p.G264G;	7.87739109360801E-5	0.008
18	61066556	C	A	18	63399323	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon8:c.G791T:p.G264V;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G791T:p.G264V;	0.999908464671911	0.998
18	61066556	C	G	18	63399323	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon8:c.G791C:p.G264A;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G791C:p.G264A;	0.999626380792829	0.94
18	61066556	C	T	18	63399323	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon8:c.G791A:p.G264E;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon8:c.G791A:p.G264E;	0.999786783895144	0.906
18	61066557	C	A	18	63399324	y	y	splicing	VPS4B(NM_004869:exon9:c.791-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.791-1G>T)	.	.	0.999983677848485	0.942
18	61066557	C	G	18	63399324	y	y	splicing	VPS4B(NM_004869:exon9:c.791-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.791-1G>C)	.	.	0.999983677848485	0.942
18	61066557	C	T	18	63399324	y	y	splicing	VPS4B(NM_004869:exon9:c.791-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.791-1G>A)	.	.	0.999983677848485	0.942
18	61066558	T	A	18	63399325	y	y	splicing	VPS4B(NM_004869:exon9:c.791-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.791-2A>T)	.	.	0.999986741007567	0.944
18	61066558	T	C	18	63399325	y	y	splicing	VPS4B(NM_004869:exon9:c.791-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.791-2A>G)	.	.	0.999986741007567	0.944
18	61066558	T	G	18	63399325	y	y	splicing	VPS4B(NM_004869:exon9:c.791-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon9:c.791-2A>C)	.	.	0.999986741007567	0.944
18	61066559	G	A	18	63399326	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.116200095643361	0.314
18	61066559	G	C	18	63399326	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999845855676516	0.876
18	61066559	G	T	18	63399326	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.983612626196187	0.87
18	61066560	C	A	18	63399327	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.68541949928677E-4	0.174
18	61066560	C	G	18	63399327	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.58721747241455E-4	0.026
18	61066560	C	T	18	63399327	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.5398611437152E-4	0.228
18	61066561	A	C	18	63399328	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.99995104189409	0.978
18	61066561	A	G	18	63399328	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0199107091305748	0.086
18	61066561	A	T	18	63399328	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999594869873338	0.97
18	61066562	T	A	18	63399329	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.71454065531494E-4	0.016
18	61066562	T	C	18	63399329	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998366278338875	0.916
18	61066562	T	G	18	63399329	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.98585570279594E-4	0.016
18	61066563	T	A	18	63399330	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.88048703445212E-5	0.018
18	61066563	T	C	18	63399330	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.77247377658319E-4	0.048
18	61066563	T	G	18	63399330	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.15222233062137E-4	0.016
18	61066564	A	C	18	63399331	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.357687737616592	0.59
18	61066564	A	G	18	63399331	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.55149431410355E-4	0.0
18	61066564	A	T	18	63399331	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.30967487743572	0.39
18	61066565	A	C	18	63399332	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.99931174637874	0.9
18	61066565	A	G	18	63399332	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.605036075167501	0.558
18	61066565	A	T	18	63399332	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998917633828918	0.9
18	61066566	A	C	18	63399333	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.985916677851144	0.862
18	61066566	A	G	18	63399333	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00536021692781749	0.13
18	61066566	A	T	18	63399333	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.992852451262344	0.834
18	61066567	A	C	18	63399334	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999983393496843	0.976
18	61066567	A	G	18	63399334	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.984648538385183	0.602
18	61066567	A	T	18	63399334	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999715170528733	0.96
18	61066568	T	A	18	63399335	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.07005950233054E-4	0.048
18	61066568	T	C	18	63399335	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.72602209793373E-4	0.006
18	61066568	T	G	18	63399335	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.01449358136901E-5	0.006
18	61067273	A	C	18	63400040	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.9411984091568E-4	0.076
18	61067273	A	G	18	63400040	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.10275182143273E-4	0.004
18	61067273	A	T	18	63400040	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.34732091570145E-4	0.044
18	61067274	A	C	18	63400041	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.53655844288159E-4	0.016
18	61067274	A	G	18	63400041	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.53655844288159E-4	0.016
18	61067274	A	T	18	63400041	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.58155077724526E-4	0.034
18	61067275	C	A	18	63400042	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.6868934392689E-5	0.024
18	61067275	C	G	18	63400042	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.99434818160664E-5	0.006
18	61067275	C	T	18	63400042	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.37926155313026E-4	0.018
18	61067276	A	C	18	63400043	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00111990984340391	0.13
18	61067276	A	G	18	63400043	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.57556118012724E-4	0.046
18	61067276	A	T	18	63400043	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.57032930652174E-4	0.044
18	61067277	C	A	18	63400044	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.4174369559906E-4	0.132
18	61067277	C	G	18	63400044	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.7233880285196E-4	0.398
18	61067277	C	T	18	63400044	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.07178098492692E-4	0.062
18	61067278	T	A	18	63400045	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.99994976788793	0.832
18	61067278	T	C	18	63400045	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.995309995097936	0.76
18	61067278	T	G	18	63400045	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999954781305711	0.844
18	61067279	A	C	18	63400046	y	y	splicing	VPS4B(NM_004869:exon8:c.790+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.790+2T>G;ENST00000588059:exon7:c.722+2T>G)	.	.	0.999994064153128	0.934
18	61067279	A	G	18	63400046	y	y	splicing	VPS4B(NM_004869:exon8:c.790+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.790+2T>C;ENST00000588059:exon7:c.722+2T>C)	.	.	0.995128238634908	0.626
18	61067279	A	T	18	63400046	y	y	splicing	VPS4B(NM_004869:exon8:c.790+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.790+2T>A;ENST00000588059:exon7:c.722+2T>A)	.	.	0.999994064153128	0.934
18	61067280	C	A	18	63400047	y	y	splicing	VPS4B(NM_004869:exon8:c.790+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.790+1G>T;ENST00000588059:exon7:c.722+1G>T)	.	.	0.999991412108771	0.936
18	61067280	C	G	18	63400047	y	y	splicing	VPS4B(NM_004869:exon8:c.790+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.790+1G>C;ENST00000588059:exon7:c.722+1G>C)	.	.	0.999991412108771	0.936
18	61067280	C	T	18	63400047	y	y	splicing	VPS4B(NM_004869:exon8:c.790+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.790+1G>A;ENST00000588059:exon7:c.722+1G>A)	.	.	0.999991412108771	0.936
18	61067281	C	A	18	63400048	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.G790T:p.G264W;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.G790T:p.G264W;	0.999994958796598	1.0
18	61067281	C	G	18	63400048	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.G790C:p.G264R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.G790C:p.G264R;	0.999997333745953	1.0
18	61067281	C	T	18	63400048	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.G790A:p.G264R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.G790A:p.G264R;	0.999991962498982	1.0
18	61067282	T	A	18	63400049	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.A789T:p.Q263H;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A789T:p.Q263H;	0.99998546052809	0.996
18	61067282	T	C	18	63400049	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon7:c.A789G:p.Q263Q;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A789G:p.Q263Q;	0.999930649608627	1.0
18	61067282	T	G	18	63400049	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.A789C:p.Q263H;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A789C:p.Q263H;	0.999984428882063	0.996
18	61067283	T	A	18	63400050	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.A788T:p.Q263L;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A788T:p.Q263L;	0.999735939115526	0.914
18	61067283	T	C	18	63400050	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.A788G:p.Q263R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A788G:p.Q263R;	0.950071924018665	0.6
18	61067283	T	G	18	63400050	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.A788C:p.Q263P;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A788C:p.Q263P;	0.901080827781842	0.74
18	61067428	G	A	18	63400195	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon7:c.C643T:p.L215L;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.C643T:p.L215L;	2.77975602913889E-4	0.002
18	61067428	G	C	18	63400195	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.C643G:p.L215V;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.C643G:p.L215V;	2.63675377770524E-5	0.02
18	61067428	G	T	18	63400195	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.C643A:p.L215M;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.C643A:p.L215M;	5.66913343772558E-5	0.148
18	61067429	T	A	18	63400196	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.A642T:p.K214N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A642T:p.K214N;	0.0231043703938486	0.158
18	61067429	T	C	18	63400196	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon7:c.A642G:p.K214K;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A642G:p.K214K;	3.24277579542158E-4	0.008
18	61067429	T	G	18	63400196	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon7:c.A642C:p.K214N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon7:c.A642C:p.K214N;	0.0231043703938486	0.216
18	61067430	C	A	18	63400197	y	y	splicing	VPS4B(NM_004869:exon8:c.642-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.642-1G>T;ENST00000588059:exon7:c.574-1G>T)	.	.	0.999990361384395	0.938
18	61067430	C	G	18	63400197	y	y	splicing	VPS4B(NM_004869:exon8:c.642-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.642-1G>C;ENST00000588059:exon7:c.574-1G>C)	.	.	0.999990361384395	0.938
18	61067430	C	T	18	63400197	y	y	splicing	VPS4B(NM_004869:exon8:c.642-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.642-1G>A;ENST00000588059:exon7:c.574-1G>A)	.	.	0.999990361384395	0.938
18	61067431	T	A	18	63400198	y	y	splicing	VPS4B(NM_004869:exon8:c.642-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.642-2A>T;ENST00000588059:exon7:c.574-2A>T)	.	.	0.999988247793601	0.93
18	61067431	T	C	18	63400198	y	y	splicing	VPS4B(NM_004869:exon8:c.642-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.642-2A>G;ENST00000588059:exon7:c.574-2A>G)	.	.	0.999988247793601	0.93
18	61067431	T	G	18	63400198	y	y	splicing	VPS4B(NM_004869:exon8:c.642-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon8:c.642-2A>C;ENST00000588059:exon7:c.574-2A>C)	.	.	0.999988247793601	0.93
18	61067432	A	C	18	63400199	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.980979703147659	0.666
18	61067432	A	G	18	63400199	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.83847626089423E-5	0.0
18	61067432	A	T	18	63400199	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0244197159471071	0.326
18	61067433	A	C	18	63400200	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.86119232270899E-4	0.016
18	61067433	A	G	18	63400200	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.28051501446794E-4	0.022
18	61067433	A	T	18	63400200	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.002302395541196	0.05
18	61067434	A	C	18	63400201	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.97603500566452	0.602
18	61067434	A	G	18	63400201	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0235915508952286	0.24
18	61067434	A	T	18	63400201	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.981582868451566	0.586
18	61067435	A	C	18	63400202	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.969146628705551	0.594
18	61067435	A	G	18	63400202	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.46871111468995E-4	0.102
18	61067435	A	T	18	63400202	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.86550059899353	0.508
18	61067436	A	C	18	63400203	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999955042918784	0.984
18	61067436	A	G	18	63400203	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.0402933510446E-4	0.0
18	61067436	A	T	18	63400203	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00426693996483515	0.098
18	61067437	T	A	18	63400204	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.07269276461887E-5	0.0
18	61067437	T	C	18	63400204	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.37600128285723E-5	0.002
18	61067437	T	G	18	63400204	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.34336492867124E-5	0.0
18	61067438	A	C	18	63400205	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.026374426379367	0.432
18	61067438	A	G	18	63400205	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.42356089998289E-4	0.096
18	61067438	A	T	18	63400205	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.12197888810681	0.424
18	61067439	A	C	18	63400206	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.833346475058468	0.654
18	61067439	A	G	18	63400206	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00307427257117468	0.068
18	61067439	A	T	18	63400206	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.675705446359232	0.734
18	61067440	A	C	18	63400207	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999960363471909	0.956
18	61067440	A	G	18	63400207	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00194614449310068	0.144
18	61067440	A	T	18	63400207	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0640618999492951	0.436
18	61067441	T	A	18	63400208	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.43099908483724E-5	0.0
18	61067441	T	C	18	63400208	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.72270315596145E-5	0.024
18	61067441	T	G	18	63400208	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.03917004611971E-5	0.0
18	61067772	C	A	18	63400539	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.20415060207885E-4	0.0
18	61067772	C	G	18	63400539	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.03486456168554E-4	0.0
18	61067772	C	T	18	63400539	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.24268202054074E-4	0.006
18	61067773	T	A	18	63400540	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.97907474622932E-5	0.0
18	61067773	T	C	18	63400540	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.37432025496364E-5	0.0
18	61067773	T	G	18	63400540	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.37432025496364E-5	0.0
18	61067774	A	C	18	63400541	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.983770068184145	0.854
18	61067774	A	G	18	63400541	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.964495716714535	0.87
18	61067774	A	T	18	63400541	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.992655987973638	0.84
18	61067775	C	A	18	63400542	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999755189279277	0.908
18	61067775	C	G	18	63400542	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999141954170794	0.9
18	61067775	C	T	18	63400542	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999178731172139	0.968
18	61067776	T	A	18	63400543	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998206486792411	0.868
18	61067776	T	C	18	63400543	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998795608931678	0.924
18	61067776	T	G	18	63400543	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.99865397534367	0.916
18	61067777	T	A	18	63400544	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.972495858207767	0.786
18	61067777	T	C	18	63400544	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00818640868963946	0.174
18	61067777	T	G	18	63400544	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999807619408708	0.83
18	61067778	A	C	18	63400545	y	y	splicing	VPS4B(NM_004869:exon7:c.641+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.641+2T>G;ENST00000588059:exon6:c.573+2T>G)	.	.	0.999988247793601	0.932
18	61067778	A	G	18	63400545	y	y	splicing	VPS4B(NM_004869:exon7:c.641+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.641+2T>C;ENST00000588059:exon6:c.573+2T>C)	.	.	0.996388929962285	0.728
18	61067778	A	T	18	63400545	y	y	splicing	VPS4B(NM_004869:exon7:c.641+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.641+2T>A;ENST00000588059:exon6:c.573+2T>A)	.	.	0.999988247793601	0.932
18	61067779	C	A	18	63400546	y	y	splicing	VPS4B(NM_004869:exon7:c.641+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.641+1G>T;ENST00000588059:exon6:c.573+1G>T)	.	.	0.999990361384395	0.938
18	61067779	C	G	18	63400546	y	y	splicing	VPS4B(NM_004869:exon7:c.641+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.641+1G>C;ENST00000588059:exon6:c.573+1G>C)	.	.	0.999990361384395	0.938
18	61067779	C	T	18	63400546	y	y	splicing	VPS4B(NM_004869:exon7:c.641+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.641+1G>A;ENST00000588059:exon6:c.573+1G>A)	.	.	0.999990361384395	0.938
18	61067780	T	A	18	63400547	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.A641T:p.K214I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.A641T:p.K214I;	0.854471465979954	0.758
18	61067780	T	C	18	63400547	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.A641G:p.K214R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.A641G:p.K214R;	0.00129350749308355	0.052
18	61067780	T	G	18	63400547	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.A641C:p.K214T;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.A641C:p.K214T;	0.848149017692853	0.802
18	61067781	T	A	18	63400548	y	y	exonic	VPS4B	stopgain SNV	VPS4B:NM_004869:exon6:c.A640T:p.K214X;	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000238497:exon6:c.A640T:p.K214X;	0.997990631497739	0.898
18	61067781	T	C	18	63400548	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.A640G:p.K214E;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.A640G:p.K214E;	0.991686565061055	0.898
18	61067781	T	G	18	63400548	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.A640C:p.K214Q;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.A640C:p.K214Q;	0.994349872361116	0.934
18	61067782	T	A	18	63400549	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.A639T:p.E213D;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.A639T:p.E213D;	0.0228755553132213	0.292
18	61067782	T	C	18	63400549	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon6:c.A639G:p.E213E;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.A639G:p.E213E;	1.19969652170255E-4	0.024
18	61067782	T	G	18	63400549	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.A639C:p.E213D;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.A639C:p.E213D;	0.00186418586399147	0.134
18	61067935	G	A	18	63400702	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon6:c.C486T:p.G162G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.C486T:p.G162G;	1.11603263460835E-4	0.094
18	61067935	G	C	18	63400702	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon6:c.C486G:p.G162G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.C486G:p.G162G;	5.55634311182841E-5	0.044
18	61067935	G	T	18	63400702	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon6:c.C486A:p.G162G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.C486A:p.G162G;	2.23679061348518E-4	0.16
18	61067936	C	A	18	63400703	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.G485T:p.G162V;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.G485T:p.G162V;	0.999956910709751	0.99
18	61067936	C	G	18	63400703	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.G485C:p.G162A;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.G485C:p.G162A;	0.999929560493235	0.98
18	61067936	C	T	18	63400703	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon6:c.G485A:p.G162D;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon6:c.G485A:p.G162D;	0.999907239328772	0.978
18	61067937	C	A	18	63400704	y	y	splicing	VPS4B(NM_004869:exon7:c.485-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.485-1G>T;ENST00000588059:exon6:c.417-1G>T)	.	.	0.999989125585301	0.944
18	61067937	C	G	18	63400704	y	y	splicing	VPS4B(NM_004869:exon7:c.485-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.485-1G>C;ENST00000588059:exon6:c.417-1G>C)	.	.	0.999989125585301	0.944
18	61067937	C	T	18	63400704	y	y	splicing	VPS4B(NM_004869:exon7:c.485-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.485-1G>A;ENST00000588059:exon6:c.417-1G>A)	.	.	0.999989125585301	0.944
18	61067938	T	A	18	63400705	y	y	splicing	VPS4B(NM_004869:exon7:c.485-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.485-2A>T;ENST00000588059:exon6:c.417-2A>T)	.	.	0.999986741007567	0.944
18	61067938	T	C	18	63400705	y	y	splicing	VPS4B(NM_004869:exon7:c.485-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.485-2A>G;ENST00000588059:exon6:c.417-2A>G)	.	.	0.999986741007567	0.944
18	61067938	T	G	18	63400705	y	y	splicing	VPS4B(NM_004869:exon7:c.485-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon7:c.485-2A>C;ENST00000588059:exon6:c.417-2A>C)	.	.	0.999986741007567	0.944
18	61067939	A	C	18	63400706	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998709641011553	0.882
18	61067939	A	G	18	63400706	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.05366054347007E-4	0.088
18	61067939	A	T	18	63400706	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.949846619147886	0.576
18	61067940	A	C	18	63400707	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00234281093237464	0.124
18	61067940	A	G	18	63400707	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.33188928935505E-4	0.094
18	61067940	A	T	18	63400707	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.1582288052582E-4	0.054
18	61067941	A	C	18	63400708	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.913682843770363	0.598
18	61067941	A	G	18	63400708	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0147482697361389	0.26
18	61067941	A	T	18	63400708	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.950402573245306	0.618
18	61067942	A	C	18	63400709	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999903489184171	0.976
18	61067942	A	G	18	63400709	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.23890853899028E-4	0.124
18	61067942	A	T	18	63400709	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0799036288887495	0.528
18	61067943	T	A	18	63400710	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.25425266818075E-5	0.042
18	61067943	T	C	18	63400710	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999623050993174	0.984
18	61067943	T	G	18	63400710	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.87780034182944E-5	0.01
18	61067944	T	A	18	63400711	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.07912601396662E-5	0.054
18	61067944	T	C	18	63400711	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999361579422685	0.918
18	61067944	T	G	18	63400711	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.003491576736E-5	0.016
18	61067945	T	A	18	63400712	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.87223391063858E-4	0.03
18	61067945	T	C	18	63400712	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00117508541402992	0.014
18	61067945	T	G	18	63400712	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.84159981526012E-4	0.016
18	61067946	A	C	18	63400713	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.145844353857511	0.496
18	61067946	A	G	18	63400713	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.23775310477388E-4	0.118
18	61067946	A	T	18	63400713	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0191096307493015	0.436
18	61067947	G	A	18	63400714	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.03780931783211E-5	0.056
18	61067947	G	C	18	63400714	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00230082744317195	0.162
18	61067947	G	T	18	63400714	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.85221899685837E-4	0.036
18	61067948	A	C	18	63400715	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999943391418575	0.982
18	61067948	A	G	18	63400715	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00900253016993221	0.244
18	61067948	A	T	18	63400715	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.687381628464598	0.68
18	61070932	T	A	18	63403699	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.69954150618017E-5	0.004
18	61070932	T	C	18	63403699	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.21606134793577E-4	0.0
18	61070932	T	G	18	63403699	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.72156716785238E-5	0.0
18	61070933	A	C	18	63403700	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.77238830199915E-4	0.072
18	61070933	A	G	18	63403700	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.76088717311042E-4	0.286
18	61070933	A	T	18	63403700	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.42675690262962E-4	0.026
18	61070934	T	A	18	63403701	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.0896183280918E-5	0.046
18	61070934	T	C	18	63403701	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.66273569787991E-5	0.024
18	61070934	T	G	18	63403701	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.29050002317458E-4	0.05
18	61070935	G	A	18	63403702	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.350557551037E-4	0.182
18	61070935	G	C	18	63403702	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.44666083102864E-5	0.036
18	61070935	G	T	18	63403702	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.98108285593154E-5	0.038
18	61070936	T	A	18	63403703	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.997871783522998	0.86
18	61070936	T	C	18	63403703	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.997550232127965	0.878
18	61070936	T	G	18	63403703	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.924291152008682	0.676
18	61070937	C	A	18	63403704	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.926780913515408	0.546
18	61070937	C	G	18	63403704	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.851814300038522	0.59
18	61070937	C	T	18	63403704	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.02322112114392E-4	0.036
18	61070938	A	C	18	63403705	y	y	splicing	VPS4B(NM_004869:exon6:c.484+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.484+2T>G;ENST00000588059:exon5:c.416+2T>G)	.	.	0.999992225159237	0.932
18	61070938	A	G	18	63403705	y	y	splicing	VPS4B(NM_004869:exon6:c.484+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.484+2T>C;ENST00000588059:exon5:c.416+2T>C)	.	.	0.999885272000431	0.87
18	61070938	A	T	18	63403705	y	y	splicing	VPS4B(NM_004869:exon6:c.484+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.484+2T>A;ENST00000588059:exon5:c.416+2T>A)	.	.	0.999992225159237	0.932
18	61070939	C	A	18	63403706	y	y	splicing	VPS4B(NM_004869:exon6:c.484+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.484+1G>T;ENST00000588059:exon5:c.416+1G>T)	.	.	0.999993444959628	0.928
18	61070939	C	G	18	63403706	y	y	splicing	VPS4B(NM_004869:exon6:c.484+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.484+1G>C;ENST00000588059:exon5:c.416+1G>C)	.	.	0.999993444959628	0.928
18	61070939	C	T	18	63403706	y	y	splicing	VPS4B(NM_004869:exon6:c.484+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.484+1G>A;ENST00000588059:exon5:c.416+1G>A)	.	.	0.999993444959628	0.928
18	61070940	C	A	18	63403707	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.G484T:p.G162C;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.G484T:p.G162C;	0.999996692806247	0.998
18	61070940	C	G	18	63403707	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.G484C:p.G162R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.G484C:p.G162R;	0.999996255947141	0.994
18	61070940	C	T	18	63403707	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.G484A:p.G162S;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.G484A:p.G162S;	0.999996338674456	0.998
18	61070941	T	A	18	63403708	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon5:c.A483T:p.T161T;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.A483T:p.T161T;	0.995552936262597	0.68
18	61070941	T	C	18	63403708	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon5:c.A483G:p.T161T;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.A483G:p.T161T;	0.995516104026376	0.75
18	61070941	T	G	18	63403708	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon5:c.A483C:p.T161T;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.A483C:p.T161T;	0.900624727554084	0.684
18	61070942	G	A	18	63403709	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.C482T:p.T161I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.C482T:p.T161I;	0.999720877217182	0.962
18	61070942	G	C	18	63403709	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.C482G:p.T161R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.C482G:p.T161R;	0.967126893432202	0.644
18	61070942	G	T	18	63403709	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.C482A:p.T161K;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.C482A:p.T161K;	0.9382530669853	0.706
18	61071058	A	C	18	63403825	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon5:c.T366G:p.G122G;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000588059:exon4:c.T298G:p.C100G;	0.00140757042651398	0.212
18	61071058	A	G	18	63403825	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon5:c.T366C:p.G122G;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000588059:exon4:c.T298C:p.C100R;	8.68408163312615E-4	0.098
18	61071058	A	T	18	63403825	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon5:c.T366A:p.G122G;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000588059:exon4:c.T298A:p.C100S;	0.00239442429359189	0.28
18	61071059	C	A	18	63403826	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.G365T:p.G122V;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.G365T:p.G122V;	0.999926324310062	0.994
18	61071059	C	G	18	63403826	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.G365C:p.G122A;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.G365C:p.G122A;	0.999843868478296	0.988
18	61071059	C	T	18	63403826	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon5:c.G365A:p.G122D;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000238497:exon5:c.G365A:p.G122D;	0.998622886898861	0.876
18	61071060	C	A	18	63403827	y	y	splicing	VPS4B(NM_004869:exon6:c.365-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.365-1G>T;ENST00000588059:exon5:c.297-1G>T)	.	.	0.999990361384395	0.938
18	61071060	C	G	18	63403827	y	y	splicing	VPS4B(NM_004869:exon6:c.365-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.365-1G>C;ENST00000588059:exon5:c.297-1G>C)	.	.	0.999990361384395	0.938
18	61071060	C	T	18	63403827	y	y	splicing	VPS4B(NM_004869:exon6:c.365-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.365-1G>A;ENST00000588059:exon5:c.297-1G>A)	.	.	0.999990361384395	0.938
18	61071061	T	A	18	63403828	y	y	splicing	VPS4B(NM_004869:exon6:c.365-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.365-2A>T;ENST00000588059:exon5:c.297-2A>T)	.	.	0.999988247793601	0.928
18	61071061	T	C	18	63403828	y	y	splicing	VPS4B(NM_004869:exon6:c.365-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.365-2A>G;ENST00000588059:exon5:c.297-2A>G)	.	.	0.999988247793601	0.928
18	61071061	T	G	18	63403828	y	y	splicing	VPS4B(NM_004869:exon6:c.365-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon6:c.365-2A>C;ENST00000588059:exon5:c.297-2A>C)	.	.	0.999988247793601	0.928
18	61071062	G	A	18	63403829	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.8594480568032E-4	0.056
18	61071062	G	C	18	63403829	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998721773197296	0.928
18	61071062	G	T	18	63403829	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.597323216452015	0.578
18	61071063	C	A	18	63403830	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.81104709051921E-5	0.0
18	61071063	C	G	18	63403830	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.40173270250616E-6	0.002
18	61071063	C	T	18	63403830	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.19921624993831E-5	0.0
18	61071064	A	C	18	63403831	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.367136055747348	0.372
18	61071064	A	G	18	63403831	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00101642001383262	0.07
18	61071064	A	T	18	63403831	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.996659931077115	0.914
18	61071065	A	C	18	63403832	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.149773091475604	0.478
18	61071065	A	G	18	63403832	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.43691797625225E-4	0.01
18	61071065	A	T	18	63403832	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.194997483410139	0.458
18	61071066	A	C	18	63403833	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.149317362834417	0.276
18	61071066	A	G	18	63403833	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.48992243715567E-4	0.03
18	61071066	A	T	18	63403833	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.124507834600524	0.27
18	61071067	A	C	18	63403834	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00867256768441683	0.27
18	61071067	A	G	18	63403834	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.85415364500472E-5	0.0
18	61071067	A	T	18	63403834	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0428850084838898	0.246
18	61071068	A	C	18	63403835	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00772989724497589	0.272
18	61071068	A	G	18	63403835	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.99459813964145E-4	0.032
18	61071068	A	T	18	63403835	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0146081300782293	0.264
18	61071069	A	C	18	63403836	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999766296661118	0.982
18	61071069	A	G	18	63403836	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.6450188443995E-4	0.028
18	61071069	A	T	18	63403836	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.612305812933922	0.37
18	61071070	T	A	18	63403837	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.80911221066742E-5	0.016
18	61071070	T	C	18	63403837	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.982254112888276	0.962
18	61071070	T	G	18	63403837	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.49765605432157E-5	0.0
18	61071071	T	A	18	63403838	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.76005873281123E-4	0.002
18	61071071	T	C	18	63403838	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.33750475680472E-4	0.016
18	61071071	T	G	18	63403838	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.98028883774023E-4	0.004
18	61074657	A	C	18	63407424	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T372G:p.F124L;	0.00353328573671636	.
18	61074657	A	G	18	63407424	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T372C:p.F124F;	0.00865862341938737	.
18	61074657	A	T	18	63407424	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T372A:p.F124L;	0.00832787782563274	.
18	61074658	A	C	18	63407425	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T371G:p.F124C;	0.00491557425531498	.
18	61074658	A	G	18	63407425	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T371C:p.F124S;	0.0065226965919533	.
18	61074658	A	T	18	63407425	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T371A:p.F124Y;	0.0116607285613028	.
18	61074659	A	C	18	63407426	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T370G:p.F124V;	0.819868961566071	.
18	61074659	A	G	18	63407426	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T370C:p.F124L;	0.876618944366053	.
18	61074659	A	T	18	63407426	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T370A:p.F124I;	0.902007044797002	.
18	61074660	G	A	18	63407427	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.C369T:p.C123C;	0.0273629213757274	.
18	61074660	G	C	18	63407427	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.C369G:p.C123W;	0.00139946913195195	.
18	61074660	G	T	18	63407427	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000591519:exon4:c.C369A:p.C123X;	0.00409321594791008	.
18	61074661	C	A	18	63407428	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G368T:p.C123F;	0.00305317906461593	.
18	61074661	C	G	18	63407428	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G368C:p.C123S;	0.00346258739545415	.
18	61074661	C	T	18	63407428	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G368A:p.C123Y;	3.79016756950991E-4	.
18	61074662	A	C	18	63407429	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T367G:p.C123G;	2.59961565467657E-4	.
18	61074662	A	G	18	63407429	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T367C:p.C123R;	0.00172096818797442	.
18	61074662	A	T	18	63407429	y	n	intronic	VPS4B	.	.	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T367A:p.C123S;	4.77403847880676E-4	.
18	61074663	A	C	18	63407430	y	n	splicing	VPS4B(NM_004869:exon5:c.364+2T>G)	.	.	exonic;splicing	ENSG00000119541;ENSG00000119541(ENST00000238497:exon5:c.364+2T>G)	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T366G:p.G122G;	0.999966568635832	.
18	61074663	A	G	18	63407430	y	n	splicing	VPS4B(NM_004869:exon5:c.364+2T>C)	.	.	exonic;splicing	ENSG00000119541;ENSG00000119541(ENST00000238497:exon5:c.364+2T>C)	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T366C:p.G122G;	0.983741075804848	.
18	61074663	A	T	18	63407430	y	n	splicing	VPS4B(NM_004869:exon5:c.364+2T>A)	.	.	exonic;splicing	ENSG00000119541;ENSG00000119541(ENST00000238497:exon5:c.364+2T>A)	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.T366A:p.G122G;	0.999966568635832	.
18	61074664	C	A	18	63407431	y	n	splicing	VPS4B(NM_004869:exon5:c.364+1G>T)	.	.	exonic;splicing	ENSG00000119541;ENSG00000119541(ENST00000238497:exon5:c.364+1G>T)	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G365T:p.G122V;	0.99999065713321	.
18	61074664	C	G	18	63407431	y	n	splicing	VPS4B(NM_004869:exon5:c.364+1G>C)	.	.	exonic;splicing	ENSG00000119541;ENSG00000119541(ENST00000238497:exon5:c.364+1G>C)	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G365C:p.G122A;	0.99999065713321	.
18	61074664	C	T	18	63407431	y	n	splicing	VPS4B(NM_004869:exon5:c.364+1G>A)	.	.	exonic;splicing	ENSG00000119541;ENSG00000119541(ENST00000238497:exon5:c.364+1G>A)	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G365A:p.G122D;	0.99999065713321	.
18	61074665	C	A	18	63407432	y	n	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.G364T:p.G122C;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G364T:p.G122C;ENSG00000119541:ENST00000238497:exon4:c.G364T:p.G122C;	0.999994429453119	.
18	61074665	C	G	18	63407432	y	n	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.G364C:p.G122R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G364C:p.G122R;ENSG00000119541:ENST00000238497:exon4:c.G364C:p.G122R;	0.999993868343892	.
18	61074665	C	T	18	63407432	y	n	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.G364A:p.G122S;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G364A:p.G122S;ENSG00000119541:ENST00000238497:exon4:c.G364A:p.G122S;	0.999991895253022	.
18	61074666	T	A	18	63407433	y	n	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.A363T:p.Q121H;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A363T:p.Q121H;ENSG00000119541:ENST00000238497:exon4:c.A363T:p.Q121H;	0.999633089193901	.
18	61074666	T	C	18	63407433	y	n	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon4:c.A363G:p.Q121Q;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A363G:p.Q121Q;ENSG00000119541:ENST00000238497:exon4:c.A363G:p.Q121Q;	0.998657855376497	.
18	61074666	T	G	18	63407433	y	n	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.A363C:p.Q121H;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A363C:p.Q121H;ENSG00000119541:ENST00000238497:exon4:c.A363C:p.Q121H;	0.999472616507836	.
18	61074667	T	A	18	63407434	y	n	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.A362T:p.Q121L;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A362T:p.Q121L;ENSG00000119541:ENST00000238497:exon4:c.A362T:p.Q121L;	0.99295164582881	.
18	61074667	T	C	18	63407434	y	n	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.A362G:p.Q121R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A362G:p.Q121R;ENSG00000119541:ENST00000238497:exon4:c.A362G:p.Q121R;	0.550467713378328	.
18	61074667	T	G	18	63407434	y	n	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.A362C:p.Q121P;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A362C:p.Q121P;ENSG00000119541:ENST00000238497:exon4:c.A362C:p.Q121P;	0.393814202670576	.
18	61074731	T	A	18	63407498	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.A298T:p.N100Y;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A298T:p.N100Y;ENSG00000119541:ENST00000238497:exon4:c.A298T:p.N100Y;	0.924587230548278	0.688
18	61074731	T	C	18	63407498	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.A298G:p.N100D;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A298G:p.N100D;ENSG00000119541:ENST00000238497:exon4:c.A298G:p.N100D;	0.267838338595082	0.21
18	61074731	T	G	18	63407498	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon4:c.A298C:p.N100H;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.A298C:p.N100H;ENSG00000119541:ENST00000238497:exon4:c.A298C:p.N100H;	0.942233507099955	0.686
18	61074732	C	A	18	63407499	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon4:c.G297T:p.G99G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G297T:p.G99G;ENSG00000119541:ENST00000238497:exon4:c.G297T:p.G99G;	0.999775724290386	0.978
18	61074732	C	G	18	63407499	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon4:c.G297C:p.G99G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G297C:p.G99G;ENSG00000119541:ENST00000238497:exon4:c.G297C:p.G99G;	0.99957984034051	0.964
18	61074732	C	T	18	63407499	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon4:c.G297A:p.G99G;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon4:c.G297A:p.G99G;ENSG00000119541:ENST00000238497:exon4:c.G297A:p.G99G;	0.996594155420835	0.77
18	61074733	C	A	18	63407500	y	y	splicing	VPS4B(NM_004869:exon5:c.297-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon5:c.297-1G>T;ENST00000591519:exon5:c.297-1G>T)	.	.	0.999989072007339	0.934
18	61074733	C	G	18	63407500	y	y	splicing	VPS4B(NM_004869:exon5:c.297-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon5:c.297-1G>C;ENST00000591519:exon5:c.297-1G>C)	.	.	0.999989072007339	0.934
18	61074733	C	T	18	63407500	y	y	splicing	VPS4B(NM_004869:exon5:c.297-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon5:c.297-1G>A;ENST00000591519:exon5:c.297-1G>A)	.	.	0.999989072007339	0.934
18	61074734	T	A	18	63407501	y	y	splicing	VPS4B(NM_004869:exon5:c.297-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon5:c.297-2A>T;ENST00000591519:exon5:c.297-2A>T)	.	.	0.999988247793601	0.93
18	61074734	T	C	18	63407501	y	y	splicing	VPS4B(NM_004869:exon5:c.297-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon5:c.297-2A>G;ENST00000591519:exon5:c.297-2A>G)	.	.	0.999988247793601	0.93
18	61074734	T	G	18	63407501	y	y	splicing	VPS4B(NM_004869:exon5:c.297-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon5:c.297-2A>C;ENST00000591519:exon5:c.297-2A>C)	.	.	0.999988247793601	0.93
18	61074735	A	C	18	63407502	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999779942122423	0.85
18	61074735	A	G	18	63407502	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.55684360723729E-4	0.006
18	61074735	A	T	18	63407502	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.316940885854852	0.278
18	61074736	A	C	18	63407503	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999149043190149	0.86
18	61074736	A	G	18	63407503	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0515472514782125	0.274
18	61074736	A	T	18	63407503	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.373637825055227	0.468
18	61074737	T	A	18	63407504	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.95096708954991E-4	0.004
18	61074737	T	C	18	63407504	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00451341265083201	0.078
18	61074737	T	G	18	63407504	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00134953888586017	0.004
18	61074738	A	C	18	63407505	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.285414840410435	0.68
18	61074738	A	G	18	63407505	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.30619575304756E-4	0.028
18	61074738	A	T	18	63407505	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.602045919719321	0.578
18	61074739	A	C	18	63407506	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.217963288002347	0.326
18	61074739	A	G	18	63407506	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.08367025924938E-5	0.058
18	61074739	A	T	18	63407506	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.513206163810316	0.328
18	61074740	A	C	18	63407507	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.936568052576284	0.644
18	61074740	A	G	18	63407507	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00456694165868014	0.084
18	61074740	A	T	18	63407507	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.834988070930339	0.73
18	61074741	A	C	18	63407508	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.904204179033671	0.67
18	61074741	A	G	18	63407508	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0029248101716912	0.092
18	61074741	A	T	18	63407508	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.963836131141584	0.782
18	61074742	A	C	18	63407509	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.99629891668425	0.754
18	61074742	A	G	18	63407509	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.726395480745895	0.442
18	61074742	A	T	18	63407509	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999016597111105	0.898
18	61074743	G	A	18	63407510	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0215548177120909	0.214
18	61074743	G	C	18	63407510	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0153037648073868	0.176
18	61074743	G	T	18	63407510	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0631371264045734	0.262
18	61074744	A	C	18	63407511	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.998760263296733	0.898
18	61074744	A	G	18	63407511	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.810696039820429	0.486
18	61074744	A	T	18	63407511	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999175059455867	0.914
18	61077515	A	C	18	63410282	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.27554107245598E-4	0.0
18	61077515	A	G	18	63410282	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00252564498784633	0.006
18	61077515	A	T	18	63410282	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00258897020080919	0.018
18	61077516	C	A	18	63410283	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.53598165441338E-4	0.0
18	61077516	C	G	18	63410283	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.86599691908366E-5	0.0
18	61077516	C	T	18	63410283	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.43930068250164E-4	0.0
18	61077517	A	C	18	63410284	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0122795423542873	0.314
18	61077517	A	G	18	63410284	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0401961411680575	0.248
18	61077517	A	T	18	63410284	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.231556177676254	0.35
18	61077518	C	A	18	63410285	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.99959091020609	0.946
18	61077518	C	G	18	63410285	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999961130969792	0.99
18	61077518	C	T	18	63410285	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999958611783513	0.996
18	61077519	G	A	18	63410286	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.04057892254782E-5	0.006
18	61077519	G	C	18	63410286	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.97232823360083E-5	0.07
18	61077519	G	T	18	63410286	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.40745745476913E-5	0.014
18	61077520	T	A	18	63410287	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.99964232794908	0.948
18	61077520	T	C	18	63410287	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.988468589407772	0.844
18	61077520	T	G	18	63410287	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.99977730300607	0.954
18	61077521	A	C	18	63410288	y	y	splicing	VPS4B(NM_004869:exon4:c.296+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.296+2T>G;ENST00000588059:exon4:c.296+2T>G;ENST00000591519:exon4:c.296+2T>G)	.	.	0.999988247793601	0.928
18	61077521	A	G	18	63410288	y	y	splicing	VPS4B(NM_004869:exon4:c.296+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.296+2T>C;ENST00000588059:exon4:c.296+2T>C;ENST00000591519:exon4:c.296+2T>C)	.	.	0.99340600729494	0.65
18	61077521	A	T	18	63410288	y	y	splicing	VPS4B(NM_004869:exon4:c.296+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.296+2T>A;ENST00000588059:exon4:c.296+2T>A;ENST00000591519:exon4:c.296+2T>A)	.	.	0.999988247793601	0.928
18	61077522	C	A	18	63410289	y	y	splicing	VPS4B(NM_004869:exon4:c.296+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.296+1G>T;ENST00000588059:exon4:c.296+1G>T;ENST00000591519:exon4:c.296+1G>T)	.	.	0.999985532734767	0.936
18	61077522	C	G	18	63410289	y	y	splicing	VPS4B(NM_004869:exon4:c.296+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.296+1G>C;ENST00000588059:exon4:c.296+1G>C;ENST00000591519:exon4:c.296+1G>C)	.	.	0.999985532734767	0.936
18	61077522	C	T	18	63410289	y	y	splicing	VPS4B(NM_004869:exon4:c.296+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.296+1G>A;ENST00000588059:exon4:c.296+1G>A;ENST00000591519:exon4:c.296+1G>A)	.	.	0.999985532734767	0.936
18	61077523	C	A	18	63410290	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.G296T:p.G99V;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G296T:p.G99V;ENSG00000119541:ENST00000238497:exon3:c.G296T:p.G99V;ENSG00000119541:ENST00000588059:exon3:c.G296T:p.G99V;	0.999905146053714	0.998
18	61077523	C	G	18	63410290	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.G296C:p.G99A;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G296C:p.G99A;ENSG00000119541:ENST00000238497:exon3:c.G296C:p.G99A;ENSG00000119541:ENST00000588059:exon3:c.G296C:p.G99A;	0.999924311052265	0.9
18	61077523	C	T	18	63410290	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.G296A:p.G99E;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G296A:p.G99E;ENSG00000119541:ENST00000238497:exon3:c.G296A:p.G99E;ENSG00000119541:ENST00000588059:exon3:c.G296A:p.G99E;	0.999977914479912	0.998
18	61077524	C	A	18	63410291	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.G295T:p.G99W;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G295T:p.G99W;ENSG00000119541:ENST00000238497:exon3:c.G295T:p.G99W;ENSG00000119541:ENST00000588059:exon3:c.G295T:p.G99W;	0.383274243488026	0.516
18	61077524	C	G	18	63410291	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.G295C:p.G99R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G295C:p.G99R;ENSG00000119541:ENST00000238497:exon3:c.G295C:p.G99R;ENSG00000119541:ENST00000588059:exon3:c.G295C:p.G99R;	0.761167587498947	0.64
18	61077524	C	T	18	63410291	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.G295A:p.G99R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G295A:p.G99R;ENSG00000119541:ENST00000238497:exon3:c.G295A:p.G99R;ENSG00000119541:ENST00000588059:exon3:c.G295A:p.G99R;	0.429319442173226	0.566
18	61077525	C	A	18	63410292	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.G294T:p.K98N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G294T:p.K98N;ENSG00000119541:ENST00000238497:exon3:c.G294T:p.K98N;ENSG00000119541:ENST00000588059:exon3:c.G294T:p.K98N;	6.35977481550655E-4	0.02
18	61077525	C	G	18	63410292	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.G294C:p.K98N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G294C:p.K98N;ENSG00000119541:ENST00000238497:exon3:c.G294C:p.K98N;ENSG00000119541:ENST00000588059:exon3:c.G294C:p.K98N;	2.13146581612883E-5	0.004
18	61077525	C	T	18	63410292	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon3:c.G294A:p.K98K;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.G294A:p.K98K;ENSG00000119541:ENST00000238497:exon3:c.G294A:p.K98K;ENSG00000119541:ENST00000588059:exon3:c.G294A:p.K98K;	1.16613743187643E-5	0.0
18	61077678	A	C	18	63410445	y	y	exonic	VPS4B	stopgain SNV	VPS4B:NM_004869:exon3:c.T141G:p.Y47X;	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000591519:exon3:c.T141G:p.Y47X;ENSG00000119541:ENST00000238497:exon3:c.T141G:p.Y47X;ENSG00000119541:ENST00000588059:exon3:c.T141G:p.Y47X;	0.422001826021727	0.666
18	61077678	A	G	18	63410445	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon3:c.T141C:p.Y47Y;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.T141C:p.Y47Y;ENSG00000119541:ENST00000238497:exon3:c.T141C:p.Y47Y;ENSG00000119541:ENST00000588059:exon3:c.T141C:p.Y47Y;	0.203896040823969	0.308
18	61077678	A	T	18	63410445	y	y	exonic	VPS4B	stopgain SNV	VPS4B:NM_004869:exon3:c.T141A:p.Y47X;	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000591519:exon3:c.T141A:p.Y47X;ENSG00000119541:ENST00000238497:exon3:c.T141A:p.Y47X;ENSG00000119541:ENST00000588059:exon3:c.T141A:p.Y47X;	0.759402668044904	0.644
18	61077679	T	A	18	63410446	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.A140T:p.Y47F;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.A140T:p.Y47F;ENSG00000119541:ENST00000238497:exon3:c.A140T:p.Y47F;ENSG00000119541:ENST00000588059:exon3:c.A140T:p.Y47F;	0.389433802915631	0.504
18	61077679	T	C	18	63410446	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.A140G:p.Y47C;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.A140G:p.Y47C;ENSG00000119541:ENST00000238497:exon3:c.A140G:p.Y47C;ENSG00000119541:ENST00000588059:exon3:c.A140G:p.Y47C;	0.595939744813009	0.662
18	61077679	T	G	18	63410446	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon3:c.A140C:p.Y47S;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon3:c.A140C:p.Y47S;ENSG00000119541:ENST00000238497:exon3:c.A140C:p.Y47S;ENSG00000119541:ENST00000588059:exon3:c.A140C:p.Y47S;	0.632536843149493	0.636
18	61077680	C	A	18	63410447	y	y	splicing	VPS4B(NM_004869:exon4:c.140-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.140-1G>T;ENST00000588059:exon4:c.140-1G>T;ENST00000591519:exon4:c.140-1G>T)	.	.	0.999985532734767	0.936
18	61077680	C	G	18	63410447	y	y	splicing	VPS4B(NM_004869:exon4:c.140-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.140-1G>C;ENST00000588059:exon4:c.140-1G>C;ENST00000591519:exon4:c.140-1G>C)	.	.	0.999985532734767	0.936
18	61077680	C	T	18	63410447	y	y	splicing	VPS4B(NM_004869:exon4:c.140-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.140-1G>A;ENST00000588059:exon4:c.140-1G>A;ENST00000591519:exon4:c.140-1G>A)	.	.	0.999985532734767	0.936
18	61077681	T	A	18	63410448	y	y	splicing	VPS4B(NM_004869:exon4:c.140-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.140-2A>T;ENST00000588059:exon4:c.140-2A>T;ENST00000591519:exon4:c.140-2A>T)	.	.	0.999988247793601	0.928
18	61077681	T	C	18	63410448	y	y	splicing	VPS4B(NM_004869:exon4:c.140-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.140-2A>G;ENST00000588059:exon4:c.140-2A>G;ENST00000591519:exon4:c.140-2A>G)	.	.	0.999988247793601	0.928
18	61077681	T	G	18	63410448	y	y	splicing	VPS4B(NM_004869:exon4:c.140-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon4:c.140-2A>C;ENST00000588059:exon4:c.140-2A>C;ENST00000591519:exon4:c.140-2A>C)	.	.	0.999988247793601	0.928
18	61077682	A	C	18	63410449	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.993887884923893	0.692
18	61077682	A	G	18	63410449	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.15536215250582E-5	0.006
18	61077682	A	T	18	63410449	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00667876474884907	0.246
18	61077683	T	A	18	63410450	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.04421961686874E-4	0.048
18	61077683	T	C	18	63410450	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.98648505888893	0.738
18	61077683	T	G	18	63410450	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.68951292171776E-5	0.0
18	61077684	T	A	18	63410451	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.32386900927404E-5	0.034
18	61077684	T	C	18	63410451	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.2213504703921E-4	0.02
18	61077684	T	G	18	63410451	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.1176274964037E-5	0.008
18	61077685	A	C	18	63410452	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.96751018335995E-4	0.116
18	61077685	A	G	18	63410452	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.70095026538199E-5	0.002
18	61077685	A	T	18	63410452	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.28873293258153E-4	0.096
18	61077686	A	C	18	63410453	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00697917798709048	0.092
18	61077686	A	G	18	63410453	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.21096694928364E-4	0.006
18	61077686	A	T	18	63410453	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00604293554019174	0.084
18	61077687	A	C	18	63410454	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00466509824129182	0.108
18	61077687	A	G	18	63410454	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.45083629203776E-4	0.004
18	61077687	A	T	18	63410454	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00990715424011844	0.104
18	61077688	G	A	18	63410455	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.76642288413973E-4	0.034
18	61077688	G	C	18	63410455	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0103344533813855	0.252
18	61077688	G	T	18	63410455	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0261518578127423	0.304
18	61077689	G	A	18	63410456	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.27548350319013E-5	0.0
18	61077689	G	C	18	63410456	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.81825655734091E-4	0.01
18	61077689	G	T	18	63410456	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.19690492885911E-4	0.034
18	61077690	G	A	18	63410457	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.67123874382986E-5	0.0
18	61077690	G	C	18	63410457	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.28627539831388E-4	0.012
18	61077690	G	T	18	63410457	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00161687400190292	0.024
18	61077691	A	C	18	63410458	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00247564770658092	0.178
18	61077691	A	G	18	63410458	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.57521478607598E-4	0.03
18	61077691	A	T	18	63410458	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00356260428378847	0.288
18	61078692	G	A	18	63411459	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.58750422069027E-4	0.006
18	61078692	G	C	18	63411459	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.35035573646298E-4	0.028
18	61078692	G	T	18	63411459	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.58750422069027E-4	0.004
18	61078693	G	A	18	63411460	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.59148032960542E-4	0.02
18	61078693	G	C	18	63411460	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.42564620030802E-5	0.022
18	61078693	G	T	18	63411460	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.36944260897419E-5	0.026
18	61078694	C	A	18	63411461	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.12314213875365E-4	0.046
18	61078694	C	G	18	63411461	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	8.26735692831268E-5	0.074
18	61078694	C	T	18	63411461	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.44990137353357E-4	0.016
18	61078695	C	A	18	63411462	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999972490715346	0.99
18	61078695	C	G	18	63411462	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999815453626617	0.878
18	61078695	C	T	18	63411462	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999981901553413	0.998
18	61078696	T	A	18	63411463	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999679710491876	0.752
18	61078696	T	C	18	63411463	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999504806475135	0.836
18	61078696	T	G	18	63411463	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.984451437315863	0.754
18	61078697	C	A	18	63411464	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.970114687437231	0.542
18	61078697	C	G	18	63411464	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.97784977905787	0.584
18	61078697	C	T	18	63411464	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	4.29357829589899E-5	0.012
18	61078698	A	C	18	63411465	y	y	splicing	VPS4B(NM_004869:exon3:c.139+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.139+2T>G;ENST00000588059:exon3:c.139+2T>G;ENST00000591519:exon3:c.139+2T>G)	.	.	0.999986741007567	0.944
18	61078698	A	G	18	63411465	y	y	splicing	VPS4B(NM_004869:exon3:c.139+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.139+2T>C;ENST00000588059:exon3:c.139+2T>C;ENST00000591519:exon3:c.139+2T>C)	.	.	0.999956634407848	0.87
18	61078698	A	T	18	63411465	y	y	splicing	VPS4B(NM_004869:exon3:c.139+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.139+2T>A;ENST00000588059:exon3:c.139+2T>A;ENST00000591519:exon3:c.139+2T>A)	.	.	0.999986741007567	0.944
18	61078699	C	A	18	63411466	y	y	splicing	VPS4B(NM_004869:exon3:c.139+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.139+1G>T;ENST00000588059:exon3:c.139+1G>T;ENST00000591519:exon3:c.139+1G>T)	.	.	0.999989125585301	0.944
18	61078699	C	G	18	63411466	y	y	splicing	VPS4B(NM_004869:exon3:c.139+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.139+1G>C;ENST00000588059:exon3:c.139+1G>C;ENST00000591519:exon3:c.139+1G>C)	.	.	0.999989125585301	0.944
18	61078699	C	T	18	63411466	y	y	splicing	VPS4B(NM_004869:exon3:c.139+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.139+1G>A;ENST00000588059:exon3:c.139+1G>A;ENST00000591519:exon3:c.139+1G>A)	.	.	0.999989125585301	0.944
18	61078700	A	C	18	63411467	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.T139G:p.Y47D;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.T139G:p.Y47D;ENSG00000119541:ENST00000238497:exon2:c.T139G:p.Y47D;ENSG00000119541:ENST00000588059:exon2:c.T139G:p.Y47D;	0.451267705166357	0.358
18	61078700	A	G	18	63411467	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.T139C:p.Y47H;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.T139C:p.Y47H;ENSG00000119541:ENST00000238497:exon2:c.T139C:p.Y47H;ENSG00000119541:ENST00000588059:exon2:c.T139C:p.Y47H;	0.985973917472935	0.816
18	61078700	A	T	18	63411467	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.T139A:p.Y47N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.T139A:p.Y47N;ENSG00000119541:ENST00000238497:exon2:c.T139A:p.Y47N;ENSG00000119541:ENST00000588059:exon2:c.T139A:p.Y47N;	0.921532466183922	0.766
18	61078701	T	A	18	63411468	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A138T:p.K46N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A138T:p.K46N;ENSG00000119541:ENST00000238497:exon2:c.A138T:p.K46N;ENSG00000119541:ENST00000588059:exon2:c.A138T:p.K46N;	0.998635888569371	0.908
18	61078701	T	C	18	63411468	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon2:c.A138G:p.K46K;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A138G:p.K46K;ENSG00000119541:ENST00000238497:exon2:c.A138G:p.K46K;ENSG00000119541:ENST00000588059:exon2:c.A138G:p.K46K;	0.990634292994669	0.86
18	61078701	T	G	18	63411468	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A138C:p.K46N;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A138C:p.K46N;ENSG00000119541:ENST00000238497:exon2:c.A138C:p.K46N;ENSG00000119541:ENST00000588059:exon2:c.A138C:p.K46N;	0.992126690090463	0.818
18	61078702	T	A	18	63411469	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A137T:p.K46I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A137T:p.K46I;ENSG00000119541:ENST00000238497:exon2:c.A137T:p.K46I;ENSG00000119541:ENST00000588059:exon2:c.A137T:p.K46I;	0.999346110154164	0.882
18	61078702	T	C	18	63411469	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A137G:p.K46R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A137G:p.K46R;ENSG00000119541:ENST00000238497:exon2:c.A137G:p.K46R;ENSG00000119541:ENST00000588059:exon2:c.A137G:p.K46R;	0.957489566353853	0.548
18	61078702	T	G	18	63411469	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A137C:p.K46T;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A137C:p.K46T;ENSG00000119541:ENST00000238497:exon2:c.A137C:p.K46T;ENSG00000119541:ENST00000588059:exon2:c.A137C:p.K46T;	0.865587625556515	0.678
18	61078810	T	A	18	63411577	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A29T:p.K10I;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A29T:p.K10I;ENSG00000119541:ENST00000238497:exon2:c.A29T:p.K10I;ENSG00000119541:ENST00000588059:exon2:c.A29T:p.K10I;	0.945697225575389	0.83
18	61078810	T	C	18	63411577	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A29G:p.K10R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A29G:p.K10R;ENSG00000119541:ENST00000238497:exon2:c.A29G:p.K10R;ENSG00000119541:ENST00000588059:exon2:c.A29G:p.K10R;	0.953271789781476	0.728
18	61078810	T	G	18	63411577	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A29C:p.K10T;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A29C:p.K10T;ENSG00000119541:ENST00000238497:exon2:c.A29C:p.K10T;ENSG00000119541:ENST00000588059:exon2:c.A29C:p.K10T;	0.94358694577778	0.856
18	61078811	T	A	18	63411578	y	y	exonic	VPS4B	stopgain SNV	VPS4B:NM_004869:exon2:c.A28T:p.K10X;	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000591519:exon2:c.A28T:p.K10X;ENSG00000119541:ENST00000238497:exon2:c.A28T:p.K10X;ENSG00000119541:ENST00000588059:exon2:c.A28T:p.K10X;	0.967495068633515	0.612
18	61078811	T	C	18	63411578	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A28G:p.K10E;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A28G:p.K10E;ENSG00000119541:ENST00000238497:exon2:c.A28G:p.K10E;ENSG00000119541:ENST00000588059:exon2:c.A28G:p.K10E;	0.814421088625367	0.708
18	61078811	T	G	18	63411578	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon2:c.A28C:p.K10Q;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon2:c.A28C:p.K10Q;ENSG00000119541:ENST00000238497:exon2:c.A28C:p.K10Q;ENSG00000119541:ENST00000588059:exon2:c.A28C:p.K10Q;	0.956843551452176	0.582
18	61078812	C	A	18	63411579	y	y	splicing	VPS4B(NM_004869:exon3:c.28-1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.28-1G>T;ENST00000588059:exon3:c.28-1G>T;ENST00000591519:exon3:c.28-1G>T)	.	.	0.999989125585301	0.94
18	61078812	C	G	18	63411579	y	y	splicing	VPS4B(NM_004869:exon3:c.28-1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.28-1G>C;ENST00000588059:exon3:c.28-1G>C;ENST00000591519:exon3:c.28-1G>C)	.	.	0.999989125585301	0.94
18	61078812	C	T	18	63411579	y	y	splicing	VPS4B(NM_004869:exon3:c.28-1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.28-1G>A;ENST00000588059:exon3:c.28-1G>A;ENST00000591519:exon3:c.28-1G>A)	.	.	0.999989125585301	0.94
18	61078813	T	A	18	63411580	y	y	splicing	VPS4B(NM_004869:exon3:c.28-2A>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.28-2A>T;ENST00000588059:exon3:c.28-2A>T;ENST00000591519:exon3:c.28-2A>T)	.	.	0.999986741007567	0.94
18	61078813	T	C	18	63411580	y	y	splicing	VPS4B(NM_004869:exon3:c.28-2A>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.28-2A>G;ENST00000588059:exon3:c.28-2A>G;ENST00000591519:exon3:c.28-2A>G)	.	.	0.999986741007567	0.94
18	61078813	T	G	18	63411580	y	y	splicing	VPS4B(NM_004869:exon3:c.28-2A>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon3:c.28-2A>C;ENST00000588059:exon3:c.28-2A>C;ENST00000591519:exon3:c.28-2A>C)	.	.	0.999986741007567	0.94
18	61078814	G	A	18	63411581	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00552860740054867	0.132
18	61078814	G	C	18	63411581	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999920109597578	0.932
18	61078814	G	T	18	63411581	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.990047921423207	0.9
18	61078815	T	A	18	63411582	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00519713130620371	0.102
18	61078815	T	C	18	63411582	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.96278441033781	0.692
18	61078815	T	G	18	63411582	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.35228810039407E-4	0.07
18	61078816	T	A	18	63411583	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.62973192016895E-5	0.034
18	61078816	T	C	18	63411583	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999170456568626	0.994
18	61078816	T	G	18	63411583	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.77887670088258E-4	0.04
18	61078817	T	A	18	63411584	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.36808648865697E-5	0.0
18	61078817	T	C	18	63411584	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.86646751678867E-5	0.002
18	61078817	T	G	18	63411584	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.36193762018073E-5	0.0
18	61078818	G	A	18	63411585	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.0390929545395E-5	0.038
18	61078818	G	C	18	63411585	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0179451535226995	0.294
18	61078818	G	T	18	63411585	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0242494921911734	0.198
18	61078819	A	C	18	63411586	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0527874935796443	0.306
18	61078819	A	G	18	63411586	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	5.35696478089762E-5	0.072
18	61078819	A	T	18	63411586	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0158515468668747	0.242
18	61078820	G	A	18	63411587	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.014143584969778	0.126
18	61078820	G	C	18	63411587	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0956644046104351	0.234
18	61078820	G	T	18	63411587	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.128880600165469	0.294
18	61078821	G	A	18	63411588	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.74419206330235E-5	0.004
18	61078821	G	C	18	63411588	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00112146945651731	0.104
18	61078821	G	T	18	63411588	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00163078444658711	0.068
18	61078822	G	A	18	63411589	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.00464167987149E-5	0.072
18	61078822	G	C	18	63411589	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00415615321263718	0.126
18	61078822	G	T	18	63411589	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0109731660126632	0.114
18	61078823	A	C	18	63411590	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.838498265734941	0.688
18	61078823	A	G	18	63411590	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.0144183586834778	0.142
18	61078823	A	T	18	63411590	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.990423696115183	0.774
18	61089458	A	C	18	63422225	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.00101627087289309	0.022
18	61089458	A	G	18	63422225	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.1432654998204E-4	0.0
18	61089458	A	T	18	63422225	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.66184836048311E-4	0.04
18	61089459	A	C	18	63422226	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.64745399314608E-5	0.0
18	61089459	A	G	18	63422226	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.07256548728156E-5	0.0
18	61089459	A	T	18	63422226	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	6.33141600191487E-5	0.0
18	61089460	T	A	18	63422227	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	7.40889971112442E-5	0.032
18	61089460	T	C	18	63422227	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.21872699824754E-4	0.0
18	61089460	T	G	18	63422227	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.86422120952365E-4	0.05
18	61089461	G	A	18	63422228	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.09513080768705E-4	0.004
18	61089461	G	C	18	63422228	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.51157416151725E-4	0.038
18	61089461	G	T	18	63422228	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	9.86377609842197E-5	0.024
18	61089462	A	C	18	63422229	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	1.81360401244737E-5	0.002
18	61089462	A	G	18	63422229	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	3.07256548728156E-5	0.004
18	61089462	A	T	18	63422229	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	2.85643565219503E-5	0.002
18	61089463	T	A	18	63422230	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999851943080795	0.918
18	61089463	T	C	18	63422230	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999395800427047	0.78
18	61089463	T	G	18	63422230	y	y	intronic	VPS4B	.	.	intronic	ENSG00000119541	.	.	0.999867375650643	0.914
18	61089464	A	C	18	63422231	y	y	splicing	VPS4B(NM_004869:exon2:c.27+2T>G)	.	.	splicing	ENSG00000119541(ENST00000238497:exon2:c.27+2T>G;ENST00000588059:exon2:c.27+2T>G;ENST00000591519:exon2:c.27+2T>G)	.	.	0.999814500365738	0.734
18	61089464	A	G	18	63422231	y	y	splicing	VPS4B(NM_004869:exon2:c.27+2T>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon2:c.27+2T>C;ENST00000588059:exon2:c.27+2T>C;ENST00000591519:exon2:c.27+2T>C)	.	.	0.8987775385059	0.454
18	61089464	A	T	18	63422231	y	y	splicing	VPS4B(NM_004869:exon2:c.27+2T>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon2:c.27+2T>A;ENST00000588059:exon2:c.27+2T>A;ENST00000591519:exon2:c.27+2T>A)	.	.	0.999848001693951	0.726
18	61089465	C	A	18	63422232	y	y	splicing	VPS4B(NM_004869:exon2:c.27+1G>T)	.	.	splicing	ENSG00000119541(ENST00000238497:exon2:c.27+1G>T;ENST00000588059:exon2:c.27+1G>T;ENST00000591519:exon2:c.27+1G>T)	.	.	0.99997603737835	0.738
18	61089465	C	G	18	63422232	y	y	splicing	VPS4B(NM_004869:exon2:c.27+1G>C)	.	.	splicing	ENSG00000119541(ENST00000238497:exon2:c.27+1G>C;ENST00000588059:exon2:c.27+1G>C;ENST00000591519:exon2:c.27+1G>C)	.	.	0.99997603737835	0.746
18	61089465	C	T	18	63422232	y	y	splicing	VPS4B(NM_004869:exon2:c.27+1G>A)	.	.	splicing	ENSG00000119541(ENST00000238497:exon2:c.27+1G>A;ENST00000588059:exon2:c.27+1G>A;ENST00000591519:exon2:c.27+1G>A)	.	.	0.99997603737835	0.776
18	61089466	C	A	18	63422233	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon1:c.G27T:p.Q9H;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon1:c.G27T:p.Q9H;ENSG00000119541:ENST00000238497:exon1:c.G27T:p.Q9H;ENSG00000119541:ENST00000588059:exon1:c.G27T:p.Q9H;	0.999978239412619	0.98
18	61089466	C	G	18	63422233	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon1:c.G27C:p.Q9H;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon1:c.G27C:p.Q9H;ENSG00000119541:ENST00000238497:exon1:c.G27C:p.Q9H;ENSG00000119541:ENST00000588059:exon1:c.G27C:p.Q9H;	0.999992798462293	1.0
18	61089466	C	T	18	63422233	y	y	exonic	VPS4B	synonymous SNV	VPS4B:NM_004869:exon1:c.G27A:p.Q9Q;	exonic	ENSG00000119541	synonymous SNV	ENSG00000119541:ENST00000591519:exon1:c.G27A:p.Q9Q;ENSG00000119541:ENST00000238497:exon1:c.G27A:p.Q9Q;ENSG00000119541:ENST00000588059:exon1:c.G27A:p.Q9Q;	0.999971333458487	0.992
18	61089467	T	A	18	63422234	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon1:c.A26T:p.Q9L;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon1:c.A26T:p.Q9L;ENSG00000119541:ENST00000238497:exon1:c.A26T:p.Q9L;ENSG00000119541:ENST00000588059:exon1:c.A26T:p.Q9L;	0.999920807645541	0.99
18	61089467	T	C	18	63422234	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon1:c.A26G:p.Q9R;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon1:c.A26G:p.Q9R;ENSG00000119541:ENST00000238497:exon1:c.A26G:p.Q9R;ENSG00000119541:ENST00000588059:exon1:c.A26G:p.Q9R;	0.994431993432	0.912
18	61089467	T	G	18	63422234	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon1:c.A26C:p.Q9P;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon1:c.A26C:p.Q9P;ENSG00000119541:ENST00000238497:exon1:c.A26C:p.Q9P;ENSG00000119541:ENST00000588059:exon1:c.A26C:p.Q9P;	0.996803706778978	0.95
18	61089468	G	A	18	63422235	y	y	exonic	VPS4B	stopgain SNV	VPS4B:NM_004869:exon1:c.C25T:p.Q9X;	exonic	ENSG00000119541	stopgain SNV	ENSG00000119541:ENST00000591519:exon1:c.C25T:p.Q9X;ENSG00000119541:ENST00000238497:exon1:c.C25T:p.Q9X;ENSG00000119541:ENST00000588059:exon1:c.C25T:p.Q9X;	0.99982404544547	0.986
18	61089468	G	C	18	63422235	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon1:c.C25G:p.Q9E;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon1:c.C25G:p.Q9E;ENSG00000119541:ENST00000238497:exon1:c.C25G:p.Q9E;ENSG00000119541:ENST00000588059:exon1:c.C25G:p.Q9E;	0.019297405848788	0.334
18	61089468	G	T	18	63422235	y	y	exonic	VPS4B	nonsynonymous SNV	VPS4B:NM_004869:exon1:c.C25A:p.Q9K;	exonic	ENSG00000119541	nonsynonymous SNV	ENSG00000119541:ENST00000591519:exon1:c.C25A:p.Q9K;ENSG00000119541:ENST00000238497:exon1:c.C25A:p.Q9K;ENSG00000119541:ENST00000588059:exon1:c.C25A:p.Q9K;	0.00510548600568974	0.102
18	61144276	C	A	18	63477043	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.00112747228486924	0.062
18	61144276	C	G	18	63477043	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	6.29238673586518E-4	0.048
18	61144276	C	T	18	63477043	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.02399595901888	0.218
18	61144277	A	C	18	63477044	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.994193872476919	0.848
18	61144277	A	G	18	63477044	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.997056446363784	0.936
18	61144277	A	T	18	63477044	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.994057670492771	0.65
18	61144278	G	A	18	63477045	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.999576491630396	0.862
18	61144278	G	C	18	63477045	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.999827875799944	0.906
18	61144278	G	T	18	63477045	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.999769957412066	0.926
18	61144279	G	A	18	63477046	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999990361384395	0.936
18	61144279	G	C	18	63477046	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999990361384395	0.936
18	61144279	G	T	18	63477046	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999990361384395	0.936
18	61144280	T	A	18	63477047	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999976368862214	0.92
18	61144280	T	C	18	63477047	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.987179783601218	0.598
18	61144280	T	G	18	63477047	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999939020951004	0.92
18	61144281	A	C	18	63477048	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.722166019034525	0.528
18	61144281	A	G	18	63477048	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00780882744802801	0.166
18	61144281	A	T	18	63477048	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.802959176830626	0.65
18	61144282	A	C	18	63477049	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.976069877584845	0.778
18	61144282	A	G	18	63477049	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.963533970084182	0.76
18	61144282	A	T	18	63477049	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.960649497318211	0.86
18	61144283	G	A	18	63477050	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.998052259883649	0.856
18	61144283	G	C	18	63477050	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.995233426372897	0.774
18	61144283	G	T	18	63477050	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.998338536606922	0.764
18	61144284	C	A	18	63477051	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00142532392580825	0.182
18	61144284	C	G	18	63477051	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00330249848064164	0.11
18	61144284	C	T	18	63477051	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.97713348811127E-4	0.09
18	61144285	A	C	18	63477052	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.05356074481699E-4	0.0
18	61144285	A	G	18	63477052	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.05356074481699E-4	0.0
18	61144285	A	T	18	63477052	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	9.55800806316548E-5	0.0
18	61144286	A	C	18	63477053	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.68382980684563E-4	0.0
18	61144286	A	G	18	63477053	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.68382980684563E-4	0.0
18	61144286	A	T	18	63477053	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.5230933723647E-4	0.0
18	61144523	A	C	18	63477290	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.00133414964176908	0.0
18	61144523	A	G	18	63477290	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.00133414964176908	0.0
18	61144523	A	T	18	63477290	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.00133414964176908	0.0
18	61144524	A	C	18	63477291	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	2.26027012063123E-4	0.0
18	61144524	A	G	18	63477291	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	2.26027012063123E-4	0.0
18	61144524	A	T	18	63477291	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	2.70352740416248E-4	0.0
18	61144525	G	A	18	63477292	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	1.38299711020094E-4	0.016
18	61144525	G	C	18	63477292	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	1.52444430761787E-4	0.018
18	61144525	G	T	18	63477292	n	y	intronic	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	1.52444430761787E-4	0.016
18	61144526	G	A	18	63477293	n	y	intronic	SERPINB5	.	.	splicing	ENSG00000206075	.	.	1.2331471065878E-4	0.012
18	61144526	G	C	18	63477293	n	y	intronic	SERPINB5	.	.	splicing	ENSG00000206075	.	.	1.35462544897784E-4	0.02
18	61144526	G	T	18	63477293	n	y	intronic	SERPINB5	.	.	splicing	ENSG00000206075	.	.	1.35462544897784E-4	0.014
18	61144527	T	A	18	63477294	n	y	intronic	SERPINB5	.	.	splicing	ENSG00000206075	.	.	2.06127354470351E-4	0.004
18	61144527	T	C	18	63477294	n	y	intronic	SERPINB5	.	.	splicing	ENSG00000206075	.	.	3.01390907494791E-4	0.006
18	61144527	T	G	18	63477294	n	y	intronic	SERPINB5	.	.	splicing	ENSG00000206075	.	.	3.01390907494791E-4	0.008
18	61144528	A	C	18	63477295	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.67378569920084E-5	0.008
18	61144528	A	G	18	63477295	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.67378569920084E-5	0.008
18	61144528	A	T	18	63477295	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.2466282736431E-4	0.008
18	61144529	A	C	18	63477296	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.08916309252732E-4	0.0
18	61144529	A	G	18	63477296	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.08916309252732E-4	0.0
18	61144529	A	T	18	63477296	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.40940918270023E-4	0.0
18	61144530	G	A	18	63477297	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.499490658591E-4	0.046
18	61144530	G	C	18	63477297	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.1539169519408E-4	0.034
18	61144530	G	T	18	63477297	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.79122344080372E-4	0.06
18	61144531	A	C	18	63477298	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.47600184168207E-4	0.004
18	61144531	A	G	18	63477298	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.47600184168207E-4	0.016
18	61144531	A	T	18	63477298	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.03412550453939E-4	0.004
18	61144532	A	C	18	63477299	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.66092623701447E-5	0.0
18	61144532	A	G	18	63477299	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.66092623701447E-5	0.0
18	61144532	A	T	18	63477299	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.66092623701447E-5	0.002
18	61144533	T	A	18	63477300	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.25211152755068E-5	0.0
18	61144533	T	C	18	63477300	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.25211152755068E-5	0.0
18	61144533	T	G	18	63477300	n	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.25211152755068E-5	0.0
18	61151643	C	A	18	63484410	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.16483211016016E-4	0.012
18	61151643	C	G	18	63484410	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.40075435684221E-5	0.002
18	61151643	C	T	18	63484410	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.1919017919139E-5	0.0
18	61151644	C	A	18	63484411	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.28001272358187E-4	0.036
18	61151644	C	G	18	63484411	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.40874334248216E-4	0.02
18	61151644	C	T	18	63484411	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.81186340145587E-5	0.0
18	61151645	T	A	18	63484412	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.114257110248236	0.448
18	61151645	T	C	18	63484412	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.68576924578666E-4	0.008
18	61151645	T	G	18	63484412	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.019878527614527	0.352
18	61151646	T	A	18	63484413	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999619621184247	0.93
18	61151646	T	C	18	63484413	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.108900500607745	0.388
18	61151646	T	G	18	63484413	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.977512749346664	0.72
18	61151647	G	A	18	63484414	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.00975614809785E-4	0.024
18	61151647	G	C	18	63484414	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.14294248861825E-5	0.008
18	61151647	G	T	18	63484414	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.09565550577616E-5	0.01
18	61151648	C	A	18	63484415	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00173787400675953	0.228
18	61151648	C	G	18	63484415	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.98432321512056E-4	0.06
18	61151648	C	T	18	63484415	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.42380879606556E-4	0.0
18	61151649	T	A	18	63484416	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.342116208056198	0.458
18	61151649	T	C	18	63484416	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.53007578521232E-4	0.09
18	61151649	T	G	18	63484416	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.416971076609716	0.55
18	61151650	T	A	18	63484417	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.363548883642803	0.544
18	61151650	T	C	18	63484417	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00589468782518827	0.08
18	61151650	T	G	18	63484417	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.424824096115746	0.564
18	61151651	C	A	18	63484418	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.38004211245901E-4	0.004
18	61151651	C	G	18	63484418	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.02239496669177E-5	0.006
18	61151651	C	T	18	63484418	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.25937034344838E-5	0.006
18	61151652	C	A	18	63484419	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.517780936601635	0.304
18	61151652	C	G	18	63484419	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.992709048936731	0.726
18	61151652	C	T	18	63484419	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00362150650092988	0.078
18	61151653	A	C	18	63484420	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999994118576384	0.83
18	61151653	A	G	18	63484420	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999994118576384	0.83
18	61151653	A	T	18	63484420	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999994118576384	0.828
18	61151654	G	A	18	63484421	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999976206550861	0.916
18	61151654	G	C	18	63484421	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999976206550861	0.92
18	61151654	G	T	18	63484421	y	y	splicing	SERPINB5	.	.	splicing	ENSG00000206075	.	.	0.999976206550861	0.92
18	61151655	G	A	18	63484422	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	3.6777731731244E-4	0.14
18	61151655	G	C	18	63484422	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.00880398531378587	0.282
18	61151655	G	T	18	63484422	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.10762239624401	0.422
18	61151656	C	A	18	63484423	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.00103479980661981	0.032
18	61151656	C	G	18	63484423	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.00152076481640986	0.034
18	61151656	C	T	18	63484423	y	y	UTR5	SERPINB5	.	.	UTR5	ENSG00000206075	.	.	0.00177476325256079	0.094
18	61151827	C	A	18	63484594	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon2:c.C166A:p.Q56K;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon2:c.C166A:p.Q56K;ENSG00000206075:ENST00000489441:exon2:c.C166A:p.Q56K;ENSG00000206075:ENST00000424602:exon2:c.C166A:p.Q56K;	1.0011310791098E-4	0.116
18	61151827	C	G	18	63484594	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon2:c.C166G:p.Q56E;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon2:c.C166G:p.Q56E;ENSG00000206075:ENST00000489441:exon2:c.C166G:p.Q56E;ENSG00000206075:ENST00000424602:exon2:c.C166G:p.Q56E;	2.96152658243291E-4	0.046
18	61151827	C	T	18	63484594	y	y	exonic	SERPINB5	stopgain SNV	SERPINB5:NM_002639:exon2:c.C166T:p.Q56X;	exonic	ENSG00000206075	stopgain SNV	ENSG00000206075:ENST00000382771:exon2:c.C166T:p.Q56X;ENSG00000206075:ENST00000489441:exon2:c.C166T:p.Q56X;ENSG00000206075:ENST00000424602:exon2:c.C166T:p.Q56X;	0.0367635512623343	0.242
18	61151828	A	C	18	63484595	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon2:c.A167C:p.Q56P;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon2:c.A167C:p.Q56P;ENSG00000206075:ENST00000489441:exon2:c.A167C:p.Q56P;ENSG00000206075:ENST00000424602:exon2:c.A167C:p.Q56P;	0.414950218430126	0.614
18	61151828	A	G	18	63484595	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon2:c.A167G:p.Q56R;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon2:c.A167G:p.Q56R;ENSG00000206075:ENST00000489441:exon2:c.A167G:p.Q56R;ENSG00000206075:ENST00000424602:exon2:c.A167G:p.Q56R;	0.331629586503393	0.448
18	61151828	A	T	18	63484595	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon2:c.A167T:p.Q56L;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon2:c.A167T:p.Q56L;ENSG00000206075:ENST00000489441:exon2:c.A167T:p.Q56L;ENSG00000206075:ENST00000424602:exon2:c.A167T:p.Q56L;	0.360821051249104	0.462
18	61151829	G	A	18	63484596	y	y	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon2:c.G168A:p.Q56Q;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon2:c.G168A:p.Q56Q;ENSG00000206075:ENST00000489441:exon2:c.G168A:p.Q56Q;ENSG00000206075:ENST00000424602:exon2:c.G168A:p.Q56Q;	0.992030618386658	0.788
18	61151829	G	C	18	63484596	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon2:c.G168C:p.Q56H;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon2:c.G168C:p.Q56H;ENSG00000206075:ENST00000489441:exon2:c.G168C:p.Q56H;ENSG00000206075:ENST00000424602:exon2:c.G168C:p.Q56H;	0.999931011948472	0.95
18	61151829	G	T	18	63484596	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon2:c.G168T:p.Q56H;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon2:c.G168T:p.Q56H;ENSG00000206075:ENST00000489441:exon2:c.G168T:p.Q56H;ENSG00000206075:ENST00000424602:exon2:c.G168T:p.Q56H;	0.999889864097356	0.992
18	61151830	G	A	18	63484597	y	y	splicing	SERPINB5(NM_002639:exon2:c.168+1G>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon2:c.168+1G>A;ENST00000489441:exon2:c.168+1G>A;ENST00000424602:exon2:c.168+1G>A)	.	.	0.999986675681007	0.93
18	61151830	G	C	18	63484597	y	y	splicing	SERPINB5(NM_002639:exon2:c.168+1G>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon2:c.168+1G>C;ENST00000489441:exon2:c.168+1G>C;ENST00000424602:exon2:c.168+1G>C)	.	.	0.999986675681007	0.93
18	61151830	G	T	18	63484597	y	y	splicing	SERPINB5(NM_002639:exon2:c.168+1G>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon2:c.168+1G>T;ENST00000489441:exon2:c.168+1G>T;ENST00000424602:exon2:c.168+1G>T)	.	.	0.999986675681007	0.93
18	61151831	T	A	18	63484598	y	y	splicing	SERPINB5(NM_002639:exon2:c.168+2T>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon2:c.168+2T>A;ENST00000489441:exon2:c.168+2T>A;ENST00000424602:exon2:c.168+2T>A)	.	.	0.999988247793601	0.926
18	61151831	T	C	18	63484598	y	y	splicing	SERPINB5(NM_002639:exon2:c.168+2T>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon2:c.168+2T>C;ENST00000489441:exon2:c.168+2T>C;ENST00000424602:exon2:c.168+2T>C)	.	.	0.991245725732999	0.626
18	61151831	T	G	18	63484598	y	y	splicing	SERPINB5(NM_002639:exon2:c.168+2T>G)	.	.	splicing	ENSG00000206075(ENST00000382771:exon2:c.168+2T>G;ENST00000489441:exon2:c.168+2T>G;ENST00000424602:exon2:c.168+2T>G)	.	.	0.999988247793601	0.926
18	61151832	A	C	18	63484599	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.963051080251931	0.748
18	61151832	A	G	18	63484599	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0784345142671235	0.164
18	61151832	A	T	18	63484599	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.988460930323736	0.876
18	61151833	A	C	18	63484600	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0502100998093571	0.31
18	61151833	A	G	18	63484600	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0989820848173412	0.306
18	61151833	A	T	18	63484600	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.151318655647848	0.256
18	61151834	G	A	18	63484601	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.845855629277581	0.578
18	61151834	G	C	18	63484601	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.423396544864983	0.56
18	61151834	G	T	18	63484601	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.754738045301293	0.564
18	61151835	C	A	18	63484602	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.26674232863872E-4	0.002
18	61151835	C	G	18	63484602	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.45470161654131E-4	0.038
18	61151835	C	T	18	63484602	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.44648853435154E-5	0.008
18	61151836	C	A	18	63484603	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.61290338920649E-5	0.0
18	61151836	C	G	18	63484603	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.02628798771573E-5	0.002
18	61151836	C	T	18	63484603	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.63942714262723E-5	0.0
18	61151837	C	A	18	63484604	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.07984050708946E-5	0.02
18	61151837	C	G	18	63484604	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.07984050708946E-5	0.008
18	61151837	C	T	18	63484604	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.07984050708946E-5	0.008
18	61154167	T	A	18	63486934	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00413496013210258	0.144
18	61154167	T	C	18	63486934	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.73891541041913E-4	0.006
18	61154167	T	G	18	63486934	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00485320039830686	0.108
18	61154168	T	A	18	63486935	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.8721684462214	0.614
18	61154168	T	C	18	63486935	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.170304950360227	0.352
18	61154168	T	G	18	63486935	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.783842871579825	0.576
18	61154169	C	A	18	63486936	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00762181143338384	0.156
18	61154169	C	G	18	63486936	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00249061858768532	0.06
18	61154169	C	T	18	63486936	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.10133540209223E-4	0.014
18	61154170	T	A	18	63486937	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.599800764179199	0.438
18	61154170	T	C	18	63486937	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0350410413529242	0.288
18	61154170	T	G	18	63486937	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.382588317945343	0.436
18	61154171	C	A	18	63486938	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00385226481197635	0.066
18	61154171	C	G	18	63486938	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00110546164979984	0.04
18	61154171	C	T	18	63486938	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.40673721319873E-5	0.06
18	61154172	T	A	18	63486939	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0101036386127935	0.096
18	61154172	T	C	18	63486939	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.42061361902109E-5	0.002
18	61154172	T	G	18	63486939	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0076403168036315	0.086
18	61154173	T	A	18	63486940	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0034968870190824	0.058
18	61154173	T	C	18	63486940	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.42061361902109E-5	0.0
18	61154173	T	G	18	63486940	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00309234478724743	0.046
18	61154174	A	C	18	63486941	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.16222708547268E-5	0.0
18	61154174	A	G	18	63486941	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.23276831064787E-5	0.004
18	61154174	A	T	18	63486941	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.00164682472189E-5	0.008
18	61154175	A	C	18	63486942	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.22614082346439E-5	0.002
18	61154175	A	G	18	63486942	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.354112930147505	0.706
18	61154175	A	T	18	63486942	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	9.96231217977573E-5	0.006
18	61154176	C	A	18	63486943	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.139422484285988	0.362
18	61154176	C	G	18	63486943	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.997270673079845	0.79
18	61154176	C	T	18	63486943	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.15277614219599E-4	0.058
18	61154177	A	C	18	63486944	y	y	splicing	SERPINB5(NM_002639:exon3:c.169-2A>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.169-2A>C;ENST00000489441:exon3:c.169-2A>C;ENST00000424602:exon3:c.169-2A>C)	.	.	0.999978952611685	0.928
18	61154177	A	G	18	63486944	y	y	splicing	SERPINB5(NM_002639:exon3:c.169-2A>G)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.169-2A>G;ENST00000489441:exon3:c.169-2A>G;ENST00000424602:exon3:c.169-2A>G)	.	.	0.999978952611685	0.928
18	61154177	A	T	18	63486944	y	y	splicing	SERPINB5(NM_002639:exon3:c.169-2A>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.169-2A>T;ENST00000489441:exon3:c.169-2A>T;ENST00000424602:exon3:c.169-2A>T)	.	.	0.999988247793601	0.926
18	61154178	G	A	18	63486945	y	y	splicing	SERPINB5(NM_002639:exon3:c.169-1G>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.169-1G>A;ENST00000489441:exon3:c.169-1G>A;ENST00000424602:exon3:c.169-1G>A)	.	.	0.999985532734767	0.934
18	61154178	G	C	18	63486945	y	y	splicing	SERPINB5(NM_002639:exon3:c.169-1G>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.169-1G>C;ENST00000489441:exon3:c.169-1G>C;ENST00000424602:exon3:c.169-1G>C)	.	.	0.999985532734767	0.936
18	61154178	G	T	18	63486945	y	y	splicing	SERPINB5(NM_002639:exon3:c.169-1G>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.169-1G>T;ENST00000489441:exon3:c.169-1G>T;ENST00000424602:exon3:c.169-1G>T)	.	.	0.999985532734767	0.926
18	61154179	G	A	18	63486946	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.G169A:p.V57I;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.G169A:p.V57I;ENSG00000206075:ENST00000489441:exon3:c.G169A:p.V57I;ENSG00000206075:ENST00000424602:exon3:c.G169A:p.V57I;	0.998246420771266	0.814
18	61154179	G	C	18	63486946	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.G169C:p.V57L;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.G169C:p.V57L;ENSG00000206075:ENST00000489441:exon3:c.G169C:p.V57L;ENSG00000206075:ENST00000424602:exon3:c.G169C:p.V57L;	0.999515831638937	0.964
18	61154179	G	T	18	63486946	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.G169T:p.V57F;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.G169T:p.V57F;ENSG00000206075:ENST00000489441:exon3:c.G169T:p.V57F;ENSG00000206075:ENST00000424602:exon3:c.G169T:p.V57F;	0.999494443604926	0.988
18	61154180	T	A	18	63486947	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.T170A:p.V57D;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.T170A:p.V57D;ENSG00000206075:ENST00000489441:exon3:c.T170A:p.V57D;ENSG00000206075:ENST00000424602:exon3:c.T170A:p.V57D;	0.224966958242873	0.392
18	61154180	T	C	18	63486947	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.T170C:p.V57A;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.T170C:p.V57A;ENSG00000206075:ENST00000489441:exon3:c.T170C:p.V57A;ENSG00000206075:ENST00000424602:exon3:c.T170C:p.V57A;	0.00984483422589547	0.064
18	61154180	T	G	18	63486947	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.T170G:p.V57G;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.T170G:p.V57G;ENSG00000206075:ENST00000489441:exon3:c.T170G:p.V57G;ENSG00000206075:ENST00000424602:exon3:c.T170G:p.V57G;	0.0308028225512203	0.056
18	61154314	A	C	18	63487081	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.A304C:p.T102P;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.A304C:p.T102P;ENSG00000206075:ENST00000489441:exon3:c.A304C:p.T102P;ENSG00000206075:ENST00000424602:exon3:c.A304C:p.T102P;	2.32165496486203E-4	0.028
18	61154314	A	G	18	63487081	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.A304G:p.T102A;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.A304G:p.T102A;ENSG00000206075:ENST00000489441:exon3:c.A304G:p.T102A;ENSG00000206075:ENST00000424602:exon3:c.A304G:p.T102A;	0.0357422081076983	0.106
18	61154314	A	T	18	63487081	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.A304T:p.T102S;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.A304T:p.T102S;ENSG00000206075:ENST00000489441:exon3:c.A304T:p.T102S;ENSG00000206075:ENST00000424602:exon3:c.A304T:p.T102S;	0.117473354664795	0.22
18	61154315	C	A	18	63487082	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.C305A:p.T102K;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.C305A:p.T102K;ENSG00000206075:ENST00000489441:exon3:c.C305A:p.T102K;ENSG00000206075:ENST00000424602:exon3:c.C305A:p.T102K;	7.47931472918457E-4	0.136
18	61154315	C	G	18	63487082	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.C305G:p.T102R;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.C305G:p.T102R;ENSG00000206075:ENST00000489441:exon3:c.C305G:p.T102R;ENSG00000206075:ENST00000424602:exon3:c.C305G:p.T102R;	0.00275702057178792	0.036
18	61154315	C	T	18	63487082	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon3:c.C305T:p.T102I;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.C305T:p.T102I;ENSG00000206075:ENST00000489441:exon3:c.C305T:p.T102I;ENSG00000206075:ENST00000424602:exon3:c.C305T:p.T102I;	7.25028242074306E-4	0.042
18	61154316	A	C	18	63487083	y	y	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon3:c.A306C:p.T102T;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.A306C:p.T102T;ENSG00000206075:ENST00000489441:exon3:c.A306C:p.T102T;ENSG00000206075:ENST00000424602:exon3:c.A306C:p.T102T;	1.32805703137669E-4	0.0
18	61154316	A	G	18	63487083	y	y	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon3:c.A306G:p.T102T;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.A306G:p.T102T;ENSG00000206075:ENST00000489441:exon3:c.A306G:p.T102T;ENSG00000206075:ENST00000424602:exon3:c.A306G:p.T102T;	1.45816706654774E-4	0.118
18	61154316	A	T	18	63487083	y	y	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon3:c.A306T:p.T102T;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon3:c.A306T:p.T102T;ENSG00000206075:ENST00000489441:exon3:c.A306T:p.T102T;ENSG00000206075:ENST00000424602:exon3:c.A306T:p.T102T;	1.44286193984831E-4	0.048
18	61154317	G	A	18	63487084	y	y	splicing	SERPINB5(NM_002639:exon3:c.306+1G>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.306+1G>A;ENST00000489441:exon3:c.306+1G>A;ENST00000424602:exon3:c.306+1G>A)	.	.	0.999981760802075	0.942
18	61154317	G	C	18	63487084	y	y	splicing	SERPINB5(NM_002639:exon3:c.306+1G>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.306+1G>C;ENST00000489441:exon3:c.306+1G>C;ENST00000424602:exon3:c.306+1G>C)	.	.	0.999981760802075	0.942
18	61154317	G	T	18	63487084	y	y	splicing	SERPINB5(NM_002639:exon3:c.306+1G>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.306+1G>T;ENST00000489441:exon3:c.306+1G>T;ENST00000424602:exon3:c.306+1G>T)	.	.	0.999981760802075	0.942
18	61154318	T	A	18	63487085	y	y	splicing	SERPINB5(NM_002639:exon3:c.306+2T>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.306+2T>A;ENST00000489441:exon3:c.306+2T>A;ENST00000424602:exon3:c.306+2T>A)	.	.	0.999989917668626	0.926
18	61154318	T	C	18	63487085	y	y	splicing	SERPINB5(NM_002639:exon3:c.306+2T>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.306+2T>C;ENST00000489441:exon3:c.306+2T>C;ENST00000424602:exon3:c.306+2T>C)	.	.	0.992323021482646	0.636
18	61154318	T	G	18	63487085	y	y	splicing	SERPINB5(NM_002639:exon3:c.306+2T>G)	.	.	splicing	ENSG00000206075(ENST00000382771:exon3:c.306+2T>G;ENST00000489441:exon3:c.306+2T>G;ENST00000424602:exon3:c.306+2T>G)	.	.	0.999989917668626	0.914
18	61154319	A	C	18	63487086	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999853088979163	0.908
18	61154319	A	G	18	63487086	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0819830503586097	0.318
18	61154319	A	T	18	63487086	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999812348530088	0.93
18	61154320	A	C	18	63487087	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.996362029622679	0.8
18	61154320	A	G	18	63487087	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.998416379393283	0.956
18	61154320	A	T	18	63487087	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.99811308421252	0.956
18	61154321	G	A	18	63487088	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999957338180753	0.992
18	61154321	G	C	18	63487088	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999968449180234	0.988
18	61154321	G	T	18	63487088	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999951634734498	0.988
18	61154322	T	A	18	63487089	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.92759753945394	0.534
18	61154322	T	C	18	63487089	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.888747697599387	0.55
18	61154322	T	G	18	63487089	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.98612135205051	0.682
18	61154323	T	A	18	63487090	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.69870175602874E-4	0.0
18	61154323	T	C	18	63487090	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.16590608194614E-5	0.002
18	61154323	T	G	18	63487090	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.19141758233539E-4	0.0
18	61154324	G	A	18	63487091	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.7715233247971E-5	0.0
18	61154324	G	C	18	63487091	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.31447682094631E-5	0.0
18	61154324	G	T	18	63487091	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.08859996361107E-5	0.0
18	61156568	C	A	18	63489335	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00134388187751713	0.118
18	61156568	C	G	18	63489335	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.73821108656808E-4	0.136
18	61156568	C	T	18	63489335	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.21367861965245E-4	0.002
18	61156569	A	C	18	63489336	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.61357763789531E-4	0.002
18	61156569	A	G	18	63489336	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.00476340815574E-4	0.008
18	61156569	A	T	18	63489336	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.13660565322602E-4	0.056
18	61156570	T	A	18	63489337	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.99997755307501	0.952
18	61156570	T	C	18	63489337	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.90710883208417E-4	0.128
18	61156570	T	G	18	63489337	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999981120331239	0.942
18	61156571	G	A	18	63489338	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.17561420239815E-4	0.008
18	61156571	G	C	18	63489338	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.5142908677394E-5	0.0
18	61156571	G	T	18	63489338	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.97032176904593E-5	0.002
18	61156572	T	A	18	63489339	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0716716235540575	0.292
18	61156572	T	C	18	63489339	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.96203591546897E-5	0.004
18	61156572	T	G	18	63489339	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00640252200905818	0.232
18	61156573	T	A	18	63489340	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0303891805933892	0.192
18	61156573	T	C	18	63489340	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.73965951062614E-4	0.054
18	61156573	T	G	18	63489340	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0227873051579333	0.186
18	61156574	T	A	18	63489341	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.992423861274934	0.86
18	61156574	T	C	18	63489341	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.98582061001529E-4	0.094
18	61156574	T	G	18	63489341	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.978733624631971	0.842
18	61156575	T	A	18	63489342	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.980859780985648	0.804
18	61156575	T	C	18	63489342	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0349946238954225	0.19
18	61156575	T	G	18	63489342	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.99460387027326	0.834
18	61156576	T	A	18	63489343	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.09289205802657E-4	0.006
18	61156576	T	C	18	63489343	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.36119504015655E-4	0.0
18	61156576	T	G	18	63489343	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.76489262692116E-4	0.09
18	61156577	C	A	18	63489344	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.766827102440119	0.582
18	61156577	C	G	18	63489344	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999735926858775	0.932
18	61156577	C	T	18	63489344	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00360255747200877	0.038
18	61156578	A	C	18	63489345	y	y	splicing	SERPINB5(NM_002639:exon4:c.307-2A>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon4:c.307-2A>C;ENST00000489441:exon4:c.307-2A>C;ENST00000424602:exon4:c.307-2A>C)	.	.	0.999988247793601	0.93
18	61156578	A	G	18	63489345	y	y	splicing	SERPINB5(NM_002639:exon4:c.307-2A>G)	.	.	splicing	ENSG00000206075(ENST00000382771:exon4:c.307-2A>G;ENST00000489441:exon4:c.307-2A>G;ENST00000424602:exon4:c.307-2A>G)	.	.	0.999988247793601	0.93
18	61156578	A	T	18	63489345	y	y	splicing	SERPINB5(NM_002639:exon4:c.307-2A>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon4:c.307-2A>T;ENST00000489441:exon4:c.307-2A>T;ENST00000424602:exon4:c.307-2A>T)	.	.	0.999988247793601	0.93
18	61156579	G	A	18	63489346	y	y	splicing	SERPINB5(NM_002639:exon4:c.307-1G>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon4:c.307-1G>A;ENST00000489441:exon4:c.307-1G>A;ENST00000424602:exon4:c.307-1G>A)	.	.	0.999990361384395	0.938
18	61156579	G	C	18	63489346	y	y	splicing	SERPINB5(NM_002639:exon4:c.307-1G>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon4:c.307-1G>C;ENST00000489441:exon4:c.307-1G>C;ENST00000424602:exon4:c.307-1G>C)	.	.	0.999990361384395	0.938
18	61156579	G	T	18	63489346	y	y	splicing	SERPINB5(NM_002639:exon4:c.307-1G>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon4:c.307-1G>T;ENST00000489441:exon4:c.307-1G>T;ENST00000424602:exon4:c.307-1G>T)	.	.	0.999990361384395	0.938
18	61156580	G	A	18	63489347	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon4:c.G307A:p.E103K;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon4:c.G307A:p.E103K;ENSG00000206075:ENST00000489441:exon4:c.G307A:p.E103K;ENSG00000206075:ENST00000424602:exon4:c.G307A:p.E103K;	0.999796234253337	0.902
18	61156580	G	C	18	63489347	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon4:c.G307C:p.E103Q;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon4:c.G307C:p.E103Q;ENSG00000206075:ENST00000489441:exon4:c.G307C:p.E103Q;ENSG00000206075:ENST00000424602:exon4:c.G307C:p.E103Q;	0.999875381575335	0.976
18	61156580	G	T	18	63489347	y	y	exonic	SERPINB5	stopgain SNV	SERPINB5:NM_002639:exon4:c.G307T:p.E103X;	exonic	ENSG00000206075	stopgain SNV	ENSG00000206075:ENST00000382771:exon4:c.G307T:p.E103X;ENSG00000206075:ENST00000489441:exon4:c.G307T:p.E103X;ENSG00000206075:ENST00000424602:exon4:c.G307T:p.E103X;	0.999946045122965	0.998
18	61156581	A	C	18	63489348	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon4:c.A308C:p.E103A;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon4:c.A308C:p.E103A;ENSG00000206075:ENST00000489441:exon4:c.A308C:p.E103A;ENSG00000206075:ENST00000424602:exon4:c.A308C:p.E103A;	0.927327800757847	0.806
18	61156581	A	G	18	63489348	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon4:c.A308G:p.E103G;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon4:c.A308G:p.E103G;ENSG00000206075:ENST00000489441:exon4:c.A308G:p.E103G;ENSG00000206075:ENST00000424602:exon4:c.A308G:p.E103G;	0.909888930644331	0.77
18	61156581	A	T	18	63489348	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon4:c.A308T:p.E103V;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon4:c.A308T:p.E103V;ENSG00000206075:ENST00000489441:exon4:c.A308T:p.E103V;ENSG00000206075:ENST00000424602:exon4:c.A308T:p.E103V;	0.897836730037894	0.738
18	61160174	A	C	18	63492941	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.19970458695299E-6	0.124
18	61160174	A	G	18	63492941	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.995580795681772	0.896
18	61160174	A	T	18	63492941	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.80105495745233E-6	0.136
18	61160175	A	C	18	63492942	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.1696893585675E-4	0.276
18	61160175	A	G	18	63492942	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.997573588514135	0.956
18	61160175	A	T	18	63492942	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.85905604481449E-4	0.384
18	61160176	A	C	18	63492943	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.621792721181597	0.638
18	61160176	A	G	18	63492943	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999774726193066	0.92
18	61160176	A	T	18	63492943	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.593398316616706	0.588
18	61160177	T	A	18	63492944	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.139003647428169	0.398
18	61160177	T	C	18	63492944	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.96264757709871E-5	0.06
18	61160177	T	G	18	63492944	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999951461694604	0.938
18	61160178	T	A	18	63492945	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999064468845949	0.954
18	61160178	T	C	18	63492945	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.0522527354932E-4	0.028
18	61160178	T	G	18	63492945	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0202494753804195	0.208
18	61160179	G	A	18	63492946	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.82155131546659E-4	0.008
18	61160179	G	C	18	63492946	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.78778313796105E-5	0.0
18	61160179	G	T	18	63492946	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.78778313796105E-5	0.0
18	61160180	T	A	18	63492947	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.776350356735417	0.668
18	61160180	T	C	18	63492947	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0082036156853075	0.134
18	61160180	T	G	18	63492947	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.928092365418075	0.636
18	61160181	T	A	18	63492948	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999295772564062	0.928
18	61160181	T	C	18	63492948	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00497438082163405	0.1
18	61160181	T	G	18	63492948	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.831871683188916	0.632
18	61160182	G	A	18	63492949	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00675133650070972	0.13
18	61160182	G	C	18	63492949	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00349535128617498	0.044
18	61160182	G	T	18	63492949	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0072535637009722	0.092
18	61160183	C	A	18	63492950	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.994040767429745	0.89
18	61160183	C	G	18	63492950	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999779174297162	0.936
18	61160183	C	T	18	63492950	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0883666329124026	0.196
18	61160184	A	C	18	63492951	y	y	splicing	SERPINB5(NM_002639:exon5:c.425-2A>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon5:c.425-2A>C;ENST00000489441:exon5:c.425-2A>C)	.	.	0.999979394981131	0.912
18	61160184	A	G	18	63492951	y	y	splicing	SERPINB5(NM_002639:exon5:c.425-2A>G)	.	.	splicing	ENSG00000206075(ENST00000382771:exon5:c.425-2A>G;ENST00000489441:exon5:c.425-2A>G)	.	.	0.999979394981131	0.912
18	61160184	A	T	18	63492951	y	y	splicing	SERPINB5(NM_002639:exon5:c.425-2A>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon5:c.425-2A>T;ENST00000489441:exon5:c.425-2A>T)	.	.	0.999979394981131	0.912
18	61160185	G	A	18	63492952	y	y	splicing	SERPINB5(NM_002639:exon5:c.425-1G>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon5:c.425-1G>A;ENST00000489441:exon5:c.425-1G>A)	.	.	0.999982627682474	0.906
18	61160185	G	C	18	63492952	y	y	splicing	SERPINB5(NM_002639:exon5:c.425-1G>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon5:c.425-1G>C;ENST00000489441:exon5:c.425-1G>C)	.	.	0.999982627682474	0.906
18	61160185	G	T	18	63492952	y	y	splicing	SERPINB5(NM_002639:exon5:c.425-1G>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon5:c.425-1G>T;ENST00000489441:exon5:c.425-1G>T)	.	.	0.999982627682474	0.906
18	61160186	G	A	18	63492953	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.G425A:p.G142D;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.G425A:p.G142D;ENSG00000206075:ENST00000489441:exon5:c.G425A:p.G142D;	0.999598364169739	0.854
18	61160186	G	C	18	63492953	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.G425C:p.G142A;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.G425C:p.G142A;ENSG00000206075:ENST00000489441:exon5:c.G425C:p.G142A;	0.999192570037568	0.942
18	61160186	G	T	18	63492953	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.G425T:p.G142V;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.G425T:p.G142V;ENSG00000206075:ENST00000489441:exon5:c.G425T:p.G142V;	0.999807516742839	0.964
18	61160187	C	A	18	63492954	y	y	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon5:c.C426A:p.G142G;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.C426A:p.G142G;ENSG00000206075:ENST00000489441:exon5:c.C426A:p.G142G;	2.81180312826521E-5	0.03
18	61160187	C	G	18	63492954	y	y	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon5:c.C426G:p.G142G;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.C426G:p.G142G;ENSG00000206075:ENST00000489441:exon5:c.C426G:p.G142G;	3.32358143683303E-4	0.008
18	61160187	C	T	18	63492954	y	y	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon5:c.C426T:p.G142G;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.C426T:p.G142G;ENSG00000206075:ENST00000489441:exon5:c.C426T:p.G142G;	1.44306890640928E-4	0.062
18	61160326	A	C	18	63493093	y	n	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.A565C:p.K189Q;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.A565C:p.K189Q;ENSG00000206075:ENST00000489441:exon5:c.A565C:p.K189Q;	0.811204767834095	0.644
18	61160326	A	G	18	63493093	y	n	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.A565G:p.K189E;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.A565G:p.K189E;ENSG00000206075:ENST00000489441:exon5:c.A565G:p.K189E;	0.499711960663189	0.52
18	61160326	A	T	18	63493093	y	n	exonic	SERPINB5	stopgain SNV	SERPINB5:NM_002639:exon5:c.A565T:p.K189X;	exonic	ENSG00000206075	stopgain SNV	ENSG00000206075:ENST00000382771:exon5:c.A565T:p.K189X;ENSG00000206075:ENST00000489441:exon5:c.A565T:p.K189X;	0.969812834389226	0.762
18	61160327	A	C	18	63493094	y	n	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.A566C:p.K189T;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.A566C:p.K189T;ENSG00000206075:ENST00000489441:exon5:c.A566C:p.K189T;	0.993469341988317	0.95
18	61160327	A	G	18	63493094	y	n	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.A566G:p.K189R;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.A566G:p.K189R;ENSG00000206075:ENST00000489441:exon5:c.A566G:p.K189R;	0.998651624668097	0.984
18	61160327	A	T	18	63493094	y	n	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.A566T:p.K189M;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.A566T:p.K189M;ENSG00000206075:ENST00000489441:exon5:c.A566T:p.K189M;	0.999466584749639	0.97
18	61160328	G	A	18	63493095	y	n	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon5:c.G567A:p.K189K;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.G567A:p.K189K;ENSG00000206075:ENST00000489441:exon5:c.G567A:p.K189K;	0.999953550169113	0.974
18	61160328	G	C	18	63493095	y	n	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.G567C:p.K189N;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.G567C:p.K189N;ENSG00000206075:ENST00000489441:exon5:c.G567C:p.K189N;	0.99998697041884	0.99
18	61160328	G	T	18	63493095	y	n	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon5:c.G567T:p.K189N;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon5:c.G567T:p.K189N;ENSG00000206075:ENST00000489441:exon5:c.G567T:p.K189N;	0.999985007705141	0.994
18	61160329	G	A	18	63493096	y	n	splicing	SERPINB5(NM_002639:exon5:c.567+1G>A)	.	.	exonic;splicing	ENSG00000206075;ENSG00000206075(ENST00000382771:exon5:c.567+1G>A)	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G568A:p.V190I;	0.999990361384395	0.938
18	61160329	G	C	18	63493096	y	n	splicing	SERPINB5(NM_002639:exon5:c.567+1G>C)	.	.	exonic;splicing	ENSG00000206075;ENSG00000206075(ENST00000382771:exon5:c.567+1G>C)	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G568C:p.V190L;	0.999990361384395	0.938
18	61160329	G	T	18	63493096	y	n	splicing	SERPINB5(NM_002639:exon5:c.567+1G>T)	.	.	exonic;splicing	ENSG00000206075;ENSG00000206075(ENST00000382771:exon5:c.567+1G>T)	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G568T:p.V190L;	0.999990361384395	0.938
18	61160330	T	A	18	63493097	y	n	splicing	SERPINB5(NM_002639:exon5:c.567+2T>A)	.	.	exonic;splicing	ENSG00000206075;ENSG00000206075(ENST00000382771:exon5:c.567+2T>A)	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.T569A:p.V190E;	0.999988247793601	0.932
18	61160330	T	C	18	63493097	y	n	splicing	SERPINB5(NM_002639:exon5:c.567+2T>C)	.	.	exonic;splicing	ENSG00000206075;ENSG00000206075(ENST00000382771:exon5:c.567+2T>C)	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.T569C:p.V190A;	0.994877988051647	0.676
18	61160330	T	G	18	63493097	y	n	splicing	SERPINB5(NM_002639:exon5:c.567+2T>G)	.	.	exonic;splicing	ENSG00000206075;ENSG00000206075(ENST00000382771:exon5:c.567+2T>G)	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.T569G:p.V190G;	0.999988247793601	0.932
18	61160331	A	C	18	63493098	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.A570C:p.V190V;	0.99573246424503	0.848
18	61160331	A	G	18	63493098	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.A570G:p.V190V;	0.687571495531467	0.72
18	61160331	A	T	18	63493098	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.A570T:p.V190V;	0.990521958623844	0.688
18	61160332	T	A	18	63493099	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.T571A:p.C191S;	1.48033273192876E-5	0.01
18	61160332	T	C	18	63493099	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.T571C:p.C191R;	2.19846261365166E-4	0.024
18	61160332	T	G	18	63493099	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.T571G:p.C191G;	3.07678816197008E-5	0.0
18	61160333	G	A	18	63493100	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G572A:p.C191Y;	0.998966019294183	0.746
18	61160333	G	C	18	63493100	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G572C:p.C191S;	0.999000708707067	0.786
18	61160333	G	T	18	63493100	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G572T:p.C191F;	0.998604651818219	0.722
18	61160334	T	A	18	63493101	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	stopgain SNV	ENSG00000206075:ENST00000489441:exon5:c.T573A:p.C191X;	0.539578481656939	0.432
18	61160334	T	C	18	63493101	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.T573C:p.C191C;	0.363536044139378	0.382
18	61160334	T	G	18	63493101	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.T573G:p.C191W;	0.41329849434426	0.318
18	61160335	G	A	18	63493102	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G574A:p.G192R;	0.00622228665194476	0.048
18	61160335	G	C	18	63493102	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G574C:p.G192R;	0.00608028148477856	0.052
18	61160335	G	T	18	63493102	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G574T:p.G192W;	0.00180245356269613	0.034
18	61160336	G	A	18	63493103	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G575A:p.G192E;	7.30598398186623E-5	0.006
18	61160336	G	C	18	63493103	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G575C:p.G192A;	3.38273958718542E-5	0.0
18	61160336	G	T	18	63493103	y	n	intronic	SERPINB5	.	.	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000489441:exon5:c.G575T:p.G192V;	5.53821982095961E-5	0.014
18	61166341	T	A	18	63499108	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00173667442368096	0.24
18	61166341	T	C	18	63499108	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00176322318100656	0.076
18	61166341	T	G	18	63499108	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00290125518337774	0.272
18	61166342	C	A	18	63499109	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.78197854212475E-4	0.09
18	61166342	C	G	18	63499109	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.65738053166381E-5	0.018
18	61166342	C	T	18	63499109	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	9.01925830691135E-6	0.0
18	61166343	C	A	18	63499110	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.30277655258629E-4	0.028
18	61166343	C	G	18	63499110	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.38305670307269E-4	0.012
18	61166343	C	T	18	63499110	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.41969654242819E-5	0.0
18	61166344	C	A	18	63499111	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.44265241208249E-4	0.066
18	61166344	C	G	18	63499111	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.27666626310838E-5	0.004
18	61166344	C	T	18	63499111	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.59275826727828E-6	0.0
18	61166345	T	A	18	63499112	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.77864204183961E-4	0.046
18	61166345	T	C	18	63499112	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.3291458683567E-4	0.008
18	61166345	T	G	18	63499112	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	4.42720820056893E-4	0.044
18	61166346	T	A	18	63499113	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	9.7199037847728E-4	0.06
18	61166346	T	C	18	63499113	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.20453849650838E-5	0.004
18	61166346	T	G	18	63499113	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.58349425773505E-4	0.018
18	61166347	T	A	18	63499114	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00966165436151717	0.07
18	61166347	T	C	18	63499114	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.44379677697337E-4	0.0
18	61166347	T	G	18	63499114	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00533849773392308	0.106
18	61166348	T	A	18	63499115	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.47091633147995E-4	0.072
18	61166348	T	C	18	63499115	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.89291135220763E-5	0.0
18	61166348	T	G	18	63499115	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	9.47554565708681E-4	0.092
18	61166349	A	C	18	63499116	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.81997438947966E-5	0.0
18	61166349	A	G	18	63499116	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.12456512548265E-4	0.002
18	61166349	A	T	18	63499116	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.36691888106984E-4	0.002
18	61166350	C	A	18	63499117	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.959778833390446	0.542
18	61166350	C	G	18	63499117	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.99987356233651	0.974
18	61166350	C	T	18	63499117	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00405852695320901	0.116
18	61166351	A	C	18	63499118	y	y	splicing	SERPINB5(NM_002639:exon6:c.568-2A>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.568-2A>C)	.	.	0.999993519952936	0.926
18	61166351	A	G	18	63499118	y	y	splicing	SERPINB5(NM_002639:exon6:c.568-2A>G)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.568-2A>G)	.	.	0.999993519952936	0.926
18	61166351	A	T	18	63499118	y	y	splicing	SERPINB5(NM_002639:exon6:c.568-2A>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.568-2A>T)	.	.	0.999993519952936	0.928
18	61166352	G	A	18	63499119	y	y	splicing	SERPINB5(NM_002639:exon6:c.568-1G>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.568-1G>A)	.	.	0.999988247793601	0.928
18	61166352	G	C	18	63499119	y	y	splicing	SERPINB5(NM_002639:exon6:c.568-1G>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.568-1G>C)	.	.	0.999988247793601	0.926
18	61166352	G	T	18	63499119	y	y	splicing	SERPINB5(NM_002639:exon6:c.568-1G>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.568-1G>T)	.	.	0.999988247793601	0.928
18	61166353	A	C	18	63499120	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.A568C:p.T190P;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.A568C:p.T190P;	0.00561527715075367	0.056
18	61166353	A	G	18	63499120	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.A568G:p.T190A;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.A568G:p.T190A;	3.80605126010549E-4	0.002
18	61166353	A	T	18	63499120	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.A568T:p.T190S;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.A568T:p.T190S;	0.00176259504819561	0.016
18	61166354	C	A	18	63499121	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.C569A:p.T190K;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.C569A:p.T190K;	1.02450669344343E-4	0.008
18	61166354	C	G	18	63499121	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.C569G:p.T190R;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.C569G:p.T190R;	2.51898297505698E-4	0.014
18	61166354	C	T	18	63499121	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.C569T:p.T190I;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.C569T:p.T190I;	1.32602895317665E-4	0.002
18	61166518	A	C	18	63499285	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.A733C:p.K245Q;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.A733C:p.K245Q;	0.00118021431253604	0.046
18	61166518	A	G	18	63499285	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.A733G:p.K245E;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.A733G:p.K245E;	0.00440087558385376	0.02
18	61166518	A	T	18	63499285	y	y	exonic	SERPINB5	stopgain SNV	SERPINB5:NM_002639:exon6:c.A733T:p.K245X;	exonic	ENSG00000206075	stopgain SNV	ENSG00000206075:ENST00000382771:exon6:c.A733T:p.K245X;	0.126626437693506	0.384
18	61166519	A	C	18	63499286	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.A734C:p.K245T;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.A734C:p.K245T;	0.977293465238398	0.868
18	61166519	A	G	18	63499286	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.A734G:p.K245R;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.A734G:p.K245R;	0.998380738975766	0.938
18	61166519	A	T	18	63499286	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.A734T:p.K245M;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.A734T:p.K245M;	0.993179238369319	0.708
18	61166520	G	A	18	63499287	y	y	exonic	SERPINB5	synonymous SNV	SERPINB5:NM_002639:exon6:c.G735A:p.K245K;	exonic	ENSG00000206075	synonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.G735A:p.K245K;	0.999037699754904	0.992
18	61166520	G	C	18	63499287	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.G735C:p.K245N;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.G735C:p.K245N;	0.999892817310377	0.96
18	61166520	G	T	18	63499287	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon6:c.G735T:p.K245N;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon6:c.G735T:p.K245N;	0.999868859224407	0.96
18	61166521	G	A	18	63499288	y	y	splicing	SERPINB5(NM_002639:exon6:c.735+1G>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.735+1G>A)	.	.	0.999988247793601	0.936
18	61166521	G	C	18	63499288	y	y	splicing	SERPINB5(NM_002639:exon6:c.735+1G>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.735+1G>C)	.	.	0.999988247793601	0.936
18	61166521	G	T	18	63499288	y	y	splicing	SERPINB5(NM_002639:exon6:c.735+1G>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.735+1G>T)	.	.	0.999988247793601	0.936
18	61166522	T	A	18	63499289	y	y	splicing	SERPINB5(NM_002639:exon6:c.735+2T>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.735+2T>A)	.	.	0.999993519952936	0.928
18	61166522	T	C	18	63499289	y	y	splicing	SERPINB5(NM_002639:exon6:c.735+2T>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.735+2T>C)	.	.	0.993596150545159	0.608
18	61166522	T	G	18	63499289	y	y	splicing	SERPINB5(NM_002639:exon6:c.735+2T>G)	.	.	splicing	ENSG00000206075(ENST00000382771:exon6:c.735+2T>G)	.	.	0.999993519952936	0.926
18	61166523	A	C	18	63499290	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.975593454386689	0.652
18	61166523	A	G	18	63499290	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.6230696439607E-4	0.04
18	61166523	A	T	18	63499290	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.988717769277981	0.618
18	61166524	A	C	18	63499291	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.11725823700678	0.414
18	61166524	A	G	18	63499291	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.781153443483672	0.48
18	61166524	A	T	18	63499291	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.330967801614743	0.406
18	61166525	G	A	18	63499292	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.482929443261396	0.524
18	61166525	G	C	18	63499292	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.23214170388553	0.512
18	61166525	G	T	18	63499292	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.392045925480981	0.488
18	61166526	G	A	18	63499293	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.38961505304715E-5	0.006
18	61166526	G	C	18	63499293	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.03667368550238E-5	0.002
18	61166526	G	T	18	63499293	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.30720152359839E-5	0.0
18	61166527	A	C	18	63499294	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.02737596553535E-4	0.004
18	61166527	A	G	18	63499294	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.9139643580346E-5	0.0
18	61166527	A	T	18	63499294	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.03590881637963E-4	0.0
18	61166528	G	A	18	63499295	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.73406751144135E-5	0.004
18	61166528	G	C	18	63499295	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.73406751144135E-5	0.004
18	61166528	G	T	18	63499295	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.73406751144135E-5	0.0
18	61170551	T	A	18	63503318	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.8591107599662E-4	0.09
18	61170551	T	C	18	63503318	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.43981552270522E-4	0.01
18	61170551	T	G	18	63503318	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.32847097717235E-4	0.056
18	61170552	T	A	18	63503319	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.42705446940261E-5	0.164
18	61170552	T	C	18	63503319	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.66364764375592E-5	0.016
18	61170552	T	G	18	63503319	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.91927234343735E-5	0.082
18	61170553	T	A	18	63503320	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.998863795289088	0.918
18	61170553	T	C	18	63503320	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.90182835922911E-4	0.034
18	61170553	T	G	18	63503320	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.80383440446156E-4	0.132
18	61170554	G	A	18	63503321	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	3.79852318925135E-4	0.052
18	61170554	G	C	18	63503321	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	7.85989404670099E-5	0.008
18	61170554	G	T	18	63503321	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.43476580920883E-4	0.064
18	61170555	T	A	18	63503322	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00134503931449059	0.084
18	61170555	T	C	18	63503322	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.50921113320272E-4	0.004
18	61170555	T	G	18	63503322	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	6.10349308832579E-4	0.05
18	61170556	C	A	18	63503323	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.24952306491112E-4	0.224
18	61170556	C	G	18	63503323	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	2.53403129038887E-4	0.064
18	61170556	C	T	18	63503323	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.31226049453339E-5	0.02
18	61170557	C	A	18	63503324	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	8.27558239179371E-4	0.118
18	61170557	C	G	18	63503324	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0019267455320336	0.128
18	61170557	C	T	18	63503324	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.00773815623304E-4	0.006
18	61170558	T	A	18	63503325	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0529557336003666	0.434
18	61170558	T	C	18	63503325	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00465034238332333	0.124
18	61170558	T	G	18	63503325	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.0666329047852133	0.418
18	61170559	T	A	18	63503326	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.51591174045998E-4	0.02
18	61170559	T	C	18	63503326	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	1.67872230556315E-4	0.064
18	61170559	T	G	18	63503326	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	5.98217048460905E-5	0.064
18	61170560	C	A	18	63503327	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.639457685775731	0.442
18	61170560	C	G	18	63503327	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.999655110306944	0.944
18	61170560	C	T	18	63503327	y	y	intronic	SERPINB5	.	.	intronic	ENSG00000206075	.	.	0.00139715339855656	0.14
18	61170561	A	C	18	63503328	y	y	splicing	SERPINB5(NM_002639:exon7:c.736-2A>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon7:c.736-2A>C)	.	.	0.999988247793601	0.928
18	61170561	A	G	18	63503328	y	y	splicing	SERPINB5(NM_002639:exon7:c.736-2A>G)	.	.	splicing	ENSG00000206075(ENST00000382771:exon7:c.736-2A>G)	.	.	0.999988247793601	0.928
18	61170561	A	T	18	63503328	y	y	splicing	SERPINB5(NM_002639:exon7:c.736-2A>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon7:c.736-2A>T)	.	.	0.999988247793601	0.928
18	61170562	G	A	18	63503329	y	y	splicing	SERPINB5(NM_002639:exon7:c.736-1G>A)	.	.	splicing	ENSG00000206075(ENST00000382771:exon7:c.736-1G>A)	.	.	0.999990361384395	0.938
18	61170562	G	C	18	63503329	y	y	splicing	SERPINB5(NM_002639:exon7:c.736-1G>C)	.	.	splicing	ENSG00000206075(ENST00000382771:exon7:c.736-1G>C)	.	.	0.999990361384395	0.938
18	61170562	G	T	18	63503329	y	y	splicing	SERPINB5(NM_002639:exon7:c.736-1G>T)	.	.	splicing	ENSG00000206075(ENST00000382771:exon7:c.736-1G>T)	.	.	0.999990361384395	0.938
18	61170563	A	C	18	63503330	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon7:c.A736C:p.I246L;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon7:c.A736C:p.I246L;	1.6526933449426E-4	0.01
18	61170563	A	G	18	63503330	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon7:c.A736G:p.I246V;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon7:c.A736G:p.I246V;	5.60985437236804E-5	0.0
18	61170563	A	T	18	63503330	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon7:c.A736T:p.I246F;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon7:c.A736T:p.I246F;	1.27647256866641E-4	0.066
18	61170564	T	A	18	63503331	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon7:c.T737A:p.I246N;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon7:c.T737A:p.I246N;	0.416460831159383	0.632
18	61170564	T	C	18	63503331	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon7:c.T737C:p.I246T;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon7:c.T737C:p.I246T;	0.591498807112598	0.572
18	61170564	T	G	18	63503331	y	y	exonic	SERPINB5	nonsynonymous SNV	SERPINB5:NM_002639:exon7:c.T737G:p.I246S;	exonic	ENSG00000206075	nonsynonymous SNV	ENSG00000206075:ENST00000382771:exon7:c.T737G:p.I246S;	0.442340459905733	0.552
18	61223558	G	A	18	63556325	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon1:c.G166A:p.E56K;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon1:c.G166A:p.E56K;ENSG00000166634:ENST00000382768:exon1:c.G166A:p.E56K;	3.09238372764386E-5	0.012
18	61223558	G	C	18	63556325	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon1:c.G166C:p.E56Q;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon1:c.G166C:p.E56Q;ENSG00000166634:ENST00000382768:exon1:c.G166C:p.E56Q;	4.31203553763139E-5	0.0
18	61223558	G	T	18	63556325	y	y	exonic	SERPINB12	stopgain SNV	SERPINB12:NM_080474:exon1:c.G166T:p.E56X;	exonic	ENSG00000166634	stopgain SNV	ENSG00000166634:ENST00000269491:exon1:c.G166T:p.E56X;ENSG00000166634:ENST00000382768:exon1:c.G166T:p.E56X;	5.52728276348347E-4	0.128
18	61223559	A	C	18	63556326	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon1:c.A167C:p.E56A;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon1:c.A167C:p.E56A;ENSG00000166634:ENST00000382768:exon1:c.A167C:p.E56A;	0.056151326848299	0.434
18	61223559	A	G	18	63556326	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon1:c.A167G:p.E56G;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon1:c.A167G:p.E56G;ENSG00000166634:ENST00000382768:exon1:c.A167G:p.E56G;	0.597179732048627	0.53
18	61223559	A	T	18	63556326	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon1:c.A167T:p.E56V;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon1:c.A167T:p.E56V;ENSG00000166634:ENST00000382768:exon1:c.A167T:p.E56V;	0.478617372851617	0.528
18	61223560	G	A	18	63556327	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon1:c.G168A:p.E56E;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon1:c.G168A:p.E56E;ENSG00000166634:ENST00000382768:exon1:c.G168A:p.E56E;	0.667112949651902	0.66
18	61223560	G	C	18	63556327	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon1:c.G168C:p.E56D;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon1:c.G168C:p.E56D;ENSG00000166634:ENST00000382768:exon1:c.G168C:p.E56D;	0.921763753930539	0.692
18	61223560	G	T	18	63556327	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon1:c.G168T:p.E56D;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon1:c.G168T:p.E56D;ENSG00000166634:ENST00000382768:exon1:c.G168T:p.E56D;	0.871790325601347	0.682
18	61223561	G	A	18	63556328	y	y	splicing	SERPINB12(NM_080474:exon1:c.168+1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon1:c.168+1G>A;ENST00000269491:exon1:c.168+1G>A)	.	.	0.999952286258862	0.842
18	61223561	G	C	18	63556328	y	y	splicing	SERPINB12(NM_080474:exon1:c.168+1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon1:c.168+1G>C;ENST00000269491:exon1:c.168+1G>C)	.	.	0.999942513266374	0.85
18	61223561	G	T	18	63556328	y	y	splicing	SERPINB12(NM_080474:exon1:c.168+1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon1:c.168+1G>T;ENST00000269491:exon1:c.168+1G>T)	.	.	0.999952286258862	0.85
18	61223562	T	A	18	63556329	y	y	splicing	SERPINB12(NM_080474:exon1:c.168+2T>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon1:c.168+2T>A;ENST00000269491:exon1:c.168+2T>A)	.	.	0.999962958601995	0.838
18	61223562	T	C	18	63556329	y	y	splicing	SERPINB12(NM_080474:exon1:c.168+2T>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon1:c.168+2T>C;ENST00000269491:exon1:c.168+2T>C)	.	.	0.88012629458119	0.556
18	61223562	T	G	18	63556329	y	y	splicing	SERPINB12(NM_080474:exon1:c.168+2T>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon1:c.168+2T>G;ENST00000269491:exon1:c.168+2T>G)	.	.	0.999962958601995	0.798
18	61223563	A	C	18	63556330	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.946693658799745	0.542
18	61223563	A	G	18	63556330	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0088253700786115	0.214
18	61223563	A	T	18	63556330	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.884572928908876	0.512
18	61223564	C	A	18	63556331	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	7.24319399140056E-5	0.032
18	61223564	C	G	18	63556331	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.21416983543993E-4	0.01
18	61223564	C	T	18	63556331	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.27658615360989E-4	0.0
18	61223565	G	A	18	63556332	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.685923631161115	0.616
18	61223565	G	C	18	63556332	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.700959425818935	0.528
18	61223565	G	T	18	63556332	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.13215409649343	0.484
18	61223566	T	A	18	63556333	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0713041950389933	0.364
18	61223566	T	C	18	63556333	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0183458074082266	0.324
18	61223566	T	G	18	63556333	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00296114169056624	0.262
18	61223567	G	A	18	63556334	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.87680416612575E-5	0.0
18	61223567	G	C	18	63556334	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.81159136363845E-5	0.0
18	61223567	G	T	18	63556334	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.25788420748545E-5	0.0
18	61223568	T	A	18	63556335	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.93008933363103E-5	0.0
18	61223568	T	C	18	63556335	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.81159136363845E-5	0.0
18	61223568	T	G	18	63556335	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.14468490257208E-5	0.0
18	61225573	G	A	18	63558340	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.20355922668014E-5	0.0
18	61225573	G	C	18	63558340	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.67944982512943E-5	0.002
18	61225573	G	T	18	63558340	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.67944982512943E-5	0.002
18	61225574	T	A	18	63558341	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.289248401098475	0.442
18	61225574	T	C	18	63558341	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0224376545932911	0.142
18	61225574	T	G	18	63558341	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.504322100244296	0.382
18	61225575	T	A	18	63558342	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0259340515211573	0.268
18	61225575	T	C	18	63558342	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.86011109670938E-4	0.106
18	61225575	T	G	18	63558342	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0456746537085178	0.3
18	61225576	A	C	18	63558343	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.75553467871751E-5	0.0
18	61225576	A	G	18	63558343	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.3801827108431E-5	0.0
18	61225576	A	T	18	63558343	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.75553467871751E-5	0.006
18	61225577	T	A	18	63558344	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0128801631802717	0.112
18	61225577	T	C	18	63558344	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.97854328197458E-4	0.024
18	61225577	T	G	18	63558344	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999878351349201	0.998
18	61225578	C	A	18	63558345	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00220327680773092	0.088
18	61225578	C	G	18	63558345	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00346361338059424	0.114
18	61225578	C	T	18	63558345	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.61189035148083E-4	0.012
18	61225579	A	C	18	63558346	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.11471314651544E-4	0.0
18	61225579	A	G	18	63558346	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.26303675627044E-4	0.004
18	61225579	A	T	18	63558346	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.70084655965838E-5	0.008
18	61225580	T	A	18	63558347	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.802953078148545	0.642
18	61225580	T	C	18	63558347	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	9.97329328378306E-5	0.028
18	61225580	T	G	18	63558347	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.954434309693111	0.668
18	61225581	G	A	18	63558348	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.61549507221497E-5	0.002
18	61225581	G	C	18	63558348	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.69397363318677E-5	0.0
18	61225581	G	T	18	63558348	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.72254340125122E-5	0.004
18	61225582	C	A	18	63558349	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.996815665675596	0.84
18	61225582	C	G	18	63558349	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999733002775021	0.858
18	61225582	C	T	18	63558349	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0414113841961077	0.182
18	61225583	A	C	18	63558350	y	y	splicing	SERPINB12(NM_080474:exon2:c.169-2A>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.169-2A>C;ENST00000269491:exon2:c.169-2A>C)	.	.	0.999980255680118	0.792
18	61225583	A	G	18	63558350	y	y	splicing	SERPINB12(NM_080474:exon2:c.169-2A>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.169-2A>G;ENST00000269491:exon2:c.169-2A>G)	.	.	0.999980255680118	0.792
18	61225583	A	T	18	63558350	y	y	splicing	SERPINB12(NM_080474:exon2:c.169-2A>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.169-2A>T;ENST00000269491:exon2:c.169-2A>T)	.	.	0.999962958601995	0.812
18	61225584	G	A	18	63558351	y	y	splicing	SERPINB12(NM_080474:exon2:c.169-1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.169-1G>A;ENST00000269491:exon2:c.169-1G>A)	.	.	0.999958003653399	0.826
18	61225584	G	C	18	63558351	y	y	splicing	SERPINB12(NM_080474:exon2:c.169-1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.169-1G>C;ENST00000269491:exon2:c.169-1G>C)	.	.	0.999977614472875	0.806
18	61225584	G	T	18	63558351	y	y	splicing	SERPINB12(NM_080474:exon2:c.169-1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.169-1G>T;ENST00000269491:exon2:c.169-1G>T)	.	.	0.999977614472875	0.822
18	61225585	G	A	18	63558352	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.G169A:p.V57I;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.G169A:p.V57I;ENSG00000166634:ENST00000382768:exon2:c.G169A:p.V57I;	0.999275131948135	0.886
18	61225585	G	C	18	63558352	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.G169C:p.V57L;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.G169C:p.V57L;ENSG00000166634:ENST00000382768:exon2:c.G169C:p.V57L;	0.973929189005399	0.872
18	61225585	G	T	18	63558352	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.G169T:p.V57L;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.G169T:p.V57L;ENSG00000166634:ENST00000382768:exon2:c.G169T:p.V57L;	0.997084180017937	0.95
18	61225586	T	A	18	63558353	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.T170A:p.V57E;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.T170A:p.V57E;ENSG00000166634:ENST00000382768:exon2:c.T170A:p.V57E;	0.00362307549565931	0.1
18	61225586	T	C	18	63558353	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.T170C:p.V57A;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.T170C:p.V57A;ENSG00000166634:ENST00000382768:exon2:c.T170C:p.V57A;	8.26813526343851E-4	0.098
18	61225586	T	G	18	63558353	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.T170G:p.V57G;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.T170G:p.V57G;ENSG00000166634:ENST00000382768:exon2:c.T170G:p.V57G;	0.00429250969401632	0.216
18	61225657	A	C	18	63558424	y	n	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.A241C:p.K81Q;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.A241C:p.K81Q;ENSG00000166634:ENST00000382768:exon2:c.A241C:p.K81Q;	2.92509081448116E-5	.
18	61225657	A	G	18	63558424	y	n	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.A241G:p.K81E;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.A241G:p.K81E;ENSG00000166634:ENST00000382768:exon2:c.A241G:p.K81E;	1.28112992103866E-4	.
18	61225657	A	T	18	63558424	y	n	exonic	SERPINB12	stopgain SNV	SERPINB12:NM_080474:exon2:c.A241T:p.K81X;	exonic	ENSG00000166634	stopgain SNV	ENSG00000166634:ENST00000269491:exon2:c.A241T:p.K81X;ENSG00000166634:ENST00000382768:exon2:c.A241T:p.K81X;	0.0313533842604145	.
18	61225658	A	C	18	63558425	y	n	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.A242C:p.K81T;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.A242C:p.K81T;ENSG00000166634:ENST00000382768:exon2:c.A242C:p.K81T;	0.98212394920191	.
18	61225658	A	G	18	63558425	y	n	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.A242G:p.K81R;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.A242G:p.K81R;ENSG00000166634:ENST00000382768:exon2:c.A242G:p.K81R;	0.989168430667969	.
18	61225658	A	T	18	63558425	y	n	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.A242T:p.K81I;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.A242T:p.K81I;ENSG00000166634:ENST00000382768:exon2:c.A242T:p.K81I;	0.996859997460891	.
18	61225659	A	C	18	63558426	y	n	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.A243C:p.K81N;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.A243C:p.K81N;ENSG00000166634:ENST00000382768:exon2:c.A243C:p.K81N;	1.01509294770035E-4	.
18	61225659	A	G	18	63558426	y	n	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon2:c.A243G:p.K81K;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.A243G:p.K81K;ENSG00000166634:ENST00000382768:exon2:c.A243G:p.K81K;	4.57413447846012E-5	.
18	61225659	A	T	18	63558426	y	n	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon2:c.A243T:p.K81N;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon2:c.A243T:p.K81N;ENSG00000166634:ENST00000382768:exon2:c.A243T:p.K81N;	2.80417267456861E-4	.
18	61225660	G	A	18	63558427	y	n	splicing	SERPINB12(NM_080474:exon2:c.243+1G>A)	.	.	exonic;splicing	ENSG00000166634;ENSG00000166634(ENST00000269491:exon2:c.243+1G>A)	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G244A:p.V82M;	0.999511262362423	.
18	61225660	G	C	18	63558427	y	n	splicing	SERPINB12(NM_080474:exon2:c.243+1G>C)	.	.	exonic;splicing	ENSG00000166634;ENSG00000166634(ENST00000269491:exon2:c.243+1G>C)	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G244C:p.V82L;	0.99914057603041	.
18	61225660	G	T	18	63558427	y	n	splicing	SERPINB12(NM_080474:exon2:c.243+1G>T)	.	.	exonic;splicing	ENSG00000166634;ENSG00000166634(ENST00000269491:exon2:c.243+1G>T)	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G244T:p.V82L;	0.999064167905674	.
18	61225661	T	A	18	63558428	y	n	splicing	SERPINB12(NM_080474:exon2:c.243+2T>A)	.	.	exonic;splicing	ENSG00000166634;ENSG00000166634(ENST00000269491:exon2:c.243+2T>A)	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.T245A:p.V82E;	0.957828459425382	.
18	61225661	T	C	18	63558428	y	n	splicing	SERPINB12(NM_080474:exon2:c.243+2T>C)	.	.	exonic;splicing	ENSG00000166634;ENSG00000166634(ENST00000269491:exon2:c.243+2T>C)	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.T245C:p.V82A;	0.854602994428051	.
18	61225661	T	G	18	63558428	y	n	splicing	SERPINB12(NM_080474:exon2:c.243+2T>G)	.	.	exonic;splicing	ENSG00000166634;ENSG00000166634(ENST00000269491:exon2:c.243+2T>G)	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.T245G:p.V82G;	0.957828459425382	.
18	61225662	G	A	18	63558429	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G246A:p.V82V;	2.46662806494052E-4	.
18	61225662	G	C	18	63558429	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G246C:p.V82V;	0.100519234825549	.
18	61225662	G	T	18	63558429	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G246T:p.V82V;	0.0757338687708096	.
18	61225663	C	A	18	63558430	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.C247A:p.L83M;	1.64447346358046E-4	.
18	61225663	C	G	18	63558430	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.C247G:p.L83V;	2.29305760158837E-5	.
18	61225663	C	T	18	63558430	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.C247T:p.L83L;	3.83792740795815E-5	.
18	61225664	T	A	18	63558431	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.T248A:p.L83Q;	1.57470505368804E-5	.
18	61225664	T	C	18	63558431	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.T248C:p.L83P;	5.6294496745049E-6	.
18	61225664	T	G	18	63558431	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.T248G:p.L83R;	4.88648654464551E-5	.
18	61225665	G	A	18	63558432	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G249A:p.L83L;	8.90424848990834E-5	.
18	61225665	G	C	18	63558432	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G249C:p.L83L;	7.58401709827126E-5	.
18	61225665	G	T	18	63558432	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G249T:p.L83L;	2.14414865796037E-5	.
18	61225666	G	A	18	63558433	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G250A:p.A84T;	1.955210743482E-4	.
18	61225666	G	C	18	63558433	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G250C:p.A84P;	2.75646919314878E-4	.
18	61225666	G	T	18	63558433	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G250T:p.A84S;	6.64307564000408E-5	.
18	61225667	C	A	18	63558434	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.C251A:p.A84D;	2.91893573293813E-4	.
18	61225667	C	G	18	63558434	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.C251G:p.A84G;	3.07054340051981E-4	.
18	61225667	C	T	18	63558434	y	n	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.C251T:p.A84V;	4.23089972172982E-4	.
18	61225717	C	A	18	63558484	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.C301A:p.Q101K;	0.0014236918519328	.
18	61225717	C	G	18	63558484	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.C301G:p.Q101E;	9.79611842141631E-4	.
18	61225717	C	T	18	63558484	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	stopgain SNV	ENSG00000166634:ENST00000382768:exon2:c.C301T:p.Q101X;	0.0790549442644254	.
18	61225718	A	C	18	63558485	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.A302C:p.Q101P;	9.36413595574705E-4	.
18	61225718	A	G	18	63558485	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.A302G:p.Q101R;	9.36413595574705E-4	.
18	61225718	A	T	18	63558485	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.A302T:p.Q101L;	8.40674291872866E-4	.
18	61225719	G	A	18	63558486	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G303A:p.Q101Q;	2.30299200570586E-4	.
18	61225719	G	C	18	63558486	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G303C:p.Q101H;	5.16955672988999E-4	.
18	61225719	G	T	18	63558486	n	y	intronic	SERPINB12	.	.	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000382768:exon2:c.G303T:p.Q101H;	5.16955672988999E-4	.
18	61225720	G	A	18	63558487	n	y	intronic	SERPINB12	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.303+1G>A)	.	.	0.00128794224452556	.
18	61225720	G	C	18	63558487	n	y	intronic	SERPINB12	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.303+1G>C)	.	.	0.0014236918519328	.
18	61225720	G	T	18	63558487	n	y	intronic	SERPINB12	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.303+1G>T)	.	.	0.0014236918519328	.
18	61225721	T	A	18	63558488	n	y	intronic	SERPINB12	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.303+2T>A)	.	.	0.0462926875400182	.
18	61225721	T	C	18	63558488	n	y	intronic	SERPINB12	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.303+2T>C)	.	.	0.0338605693848106	.
18	61225721	T	G	18	63558488	n	y	intronic	SERPINB12	.	.	splicing	ENSG00000166634(ENST00000382768:exon2:c.303+2T>G)	.	.	0.0462926875400182	.
18	61225722	G	A	18	63558489	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0166102493953761	.
18	61225722	G	C	18	63558489	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0115185743957791	.
18	61225722	G	T	18	63558489	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0127846332835384	.
18	61225723	A	C	18	63558490	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	8.08781057821191E-5	.
18	61225723	A	G	18	63558490	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	8.08781057821191E-5	.
18	61225723	A	T	18	63558490	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.17026813938218E-4	.
18	61225724	A	C	18	63558491	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.76092372094667E-5	.
18	61225724	A	G	18	63558491	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.76092372094667E-5	.
18	61225724	A	T	18	63558491	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.8255501566349E-5	.
18	61225725	C	A	18	63558492	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.97615941504419E-5	.
18	61225725	C	G	18	63558492	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.97615941504419E-5	.
18	61225725	C	T	18	63558492	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.14167774402809E-5	.
18	61225726	C	A	18	63558493	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.11200284121275E-5	.
18	61225726	C	G	18	63558493	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.11200284121275E-5	.
18	61225726	C	T	18	63558493	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.11200284121275E-5	.
18	61225727	G	A	18	63558494	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	7.56401550264065E-5	.
18	61225727	G	C	18	63558494	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.8970140655344E-5	.
18	61225727	G	T	18	63558494	n	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.8970140655344E-5	.
18	61226799	T	A	18	63559566	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00163238327098723	0.142
18	61226799	T	C	18	63559566	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00667695261564335	0.034
18	61226799	T	G	18	63559566	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00571483021400839	0.138
18	61226800	T	A	18	63559567	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.72410795570174E-4	0.188
18	61226800	T	C	18	63559567	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	9.51859200799239E-5	0.042
18	61226800	T	G	18	63559567	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.37599419076871E-4	0.102
18	61226801	C	A	18	63559568	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0215463258155582	0.186
18	61226801	C	G	18	63559568	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0063251617124495	0.134
18	61226801	C	T	18	63559568	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0013408314046439	0.01
18	61226802	T	A	18	63559569	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.79956530084056E-4	0.138
18	61226802	T	C	18	63559569	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.410329217088E-4	0.008
18	61226802	T	G	18	63559569	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.91902156016633E-4	0.166
18	61226803	T	A	18	63559570	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00168828779120936	0.068
18	61226803	T	C	18	63559570	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00147001014208051	0.046
18	61226803	T	G	18	63559570	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00219454130808381	0.058
18	61226804	T	A	18	63559571	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.67982931721445E-4	0.088
18	61226804	T	C	18	63559571	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.99009327322159E-5	0.002
18	61226804	T	G	18	63559571	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.0361593520306E-4	0.032
18	61226805	C	A	18	63559572	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.17512317561703E-4	0.096
18	61226805	C	G	18	63559572	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.07448726192616E-4	0.13
18	61226805	C	T	18	63559572	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.23426842784666E-5	0.018
18	61226806	C	A	18	63559573	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.68059019088738E-4	0.042
18	61226806	C	G	18	63559573	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.65838135637624E-4	0.078
18	61226806	C	T	18	63559573	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.92220471736011E-5	0.002
18	61226807	T	A	18	63559574	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.20687034090016E-4	0.006
18	61226807	T	C	18	63559574	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.04577654852493E-4	0.0
18	61226807	T	G	18	63559574	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.70296362892095E-4	0.008
18	61226808	T	A	18	63559575	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0132740770427238	0.198
18	61226808	T	C	18	63559575	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	8.58595231849575E-5	0.016
18	61226808	T	G	18	63559575	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.98049541402706	0.59
18	61226809	A	C	18	63559576	y	y	splicing	SERPINB12(NM_080474:exon3:c.244-2A>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.304-2A>C;ENST00000269491:exon3:c.244-2A>C)	.	.	0.999962958601995	0.836
18	61226809	A	G	18	63559576	y	y	splicing	SERPINB12(NM_080474:exon3:c.244-2A>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.304-2A>G;ENST00000269491:exon3:c.244-2A>G)	.	.	0.999962958601995	0.836
18	61226809	A	T	18	63559576	y	y	splicing	SERPINB12(NM_080474:exon3:c.244-2A>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.304-2A>T;ENST00000269491:exon3:c.244-2A>T)	.	.	0.999969255906173	0.836
18	61226810	G	A	18	63559577	y	y	splicing	SERPINB12(NM_080474:exon3:c.244-1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.304-1G>A;ENST00000269491:exon3:c.244-1G>A)	.	.	0.999942513266374	0.85
18	61226810	G	C	18	63559577	y	y	splicing	SERPINB12(NM_080474:exon3:c.244-1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.304-1G>C;ENST00000269491:exon3:c.244-1G>C)	.	.	0.999942513266374	0.81
18	61226810	G	T	18	63559577	y	y	splicing	SERPINB12(NM_080474:exon3:c.244-1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.304-1G>T;ENST00000269491:exon3:c.244-1G>T)	.	.	0.999942513266374	0.816
18	61226811	G	A	18	63559578	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.G244A:p.A82T;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.G244A:p.A82T;ENSG00000166634:ENST00000382768:exon3:c.G304A:p.A102T;	6.84247985567336E-4	0.146
18	61226811	G	C	18	63559578	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.G244C:p.A82P;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.G244C:p.A82P;ENSG00000166634:ENST00000382768:exon3:c.G304C:p.A102P;	0.00775721549455668	0.346
18	61226811	G	T	18	63559578	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.G244T:p.A82S;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.G244T:p.A82S;ENSG00000166634:ENST00000382768:exon3:c.G304T:p.A102S;	0.020916371752673	0.346
18	61226812	C	A	18	63559579	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.C245A:p.A82D;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.C245A:p.A82D;ENSG00000166634:ENST00000382768:exon3:c.C305A:p.A102D;	1.49795061526841E-4	0.028
18	61226812	C	G	18	63559579	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.C245G:p.A82G;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.C245G:p.A82G;ENSG00000166634:ENST00000382768:exon3:c.C305G:p.A102G;	2.23510616112332E-4	0.052
18	61226812	C	T	18	63559579	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.C245T:p.A82V;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.C245T:p.A82V;ENSG00000166634:ENST00000382768:exon3:c.C305T:p.A102V;	1.46437460339131E-4	0.056
18	61226949	C	A	18	63559716	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.C382A:p.Q128K;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.C382A:p.Q128K;ENSG00000166634:ENST00000382768:exon3:c.C442A:p.Q148K;	0.00141624316514483	0.054
18	61226949	C	G	18	63559716	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.C382G:p.Q128E;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.C382G:p.Q128E;ENSG00000166634:ENST00000382768:exon3:c.C442G:p.Q148E;	5.39934236317978E-4	0.048
18	61226949	C	T	18	63559716	y	y	exonic	SERPINB12	stopgain SNV	SERPINB12:NM_080474:exon3:c.C382T:p.Q128X;	exonic	ENSG00000166634	stopgain SNV	ENSG00000166634:ENST00000269491:exon3:c.C382T:p.Q128X;ENSG00000166634:ENST00000382768:exon3:c.C442T:p.Q148X;	0.610258568770493	0.372
18	61226950	A	C	18	63559717	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.A383C:p.Q128P;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.A383C:p.Q128P;ENSG00000166634:ENST00000382768:exon3:c.A443C:p.Q148P;	0.00605964220768874	0.352
18	61226950	A	G	18	63559717	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.A383G:p.Q128R;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.A383G:p.Q128R;ENSG00000166634:ENST00000382768:exon3:c.A443G:p.Q148R;	0.0210510528752225	0.282
18	61226950	A	T	18	63559717	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.A383T:p.Q128L;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.A383T:p.Q128L;ENSG00000166634:ENST00000382768:exon3:c.A443T:p.Q148L;	0.0578049192552972	0.384
18	61226951	G	A	18	63559718	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon3:c.G384A:p.Q128Q;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.G384A:p.Q128Q;ENSG00000166634:ENST00000382768:exon3:c.G444A:p.Q148Q;	0.280855476027727	0.436
18	61226951	G	C	18	63559718	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.G384C:p.Q128H;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.G384C:p.Q128H;ENSG00000166634:ENST00000382768:exon3:c.G444C:p.Q148H;	0.961465653973774	0.594
18	61226951	G	T	18	63559718	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon3:c.G384T:p.Q128H;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon3:c.G384T:p.Q128H;ENSG00000166634:ENST00000382768:exon3:c.G444T:p.Q148H;	0.797359807260868	0.544
18	61226952	G	A	18	63559719	y	y	splicing	SERPINB12(NM_080474:exon3:c.384+1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.444+1G>A;ENST00000269491:exon3:c.384+1G>A)	.	.	0.999985532734767	0.936
18	61226952	G	C	18	63559719	y	y	splicing	SERPINB12(NM_080474:exon3:c.384+1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.444+1G>C;ENST00000269491:exon3:c.384+1G>C)	.	.	0.999974090184857	0.936
18	61226952	G	T	18	63559719	y	y	splicing	SERPINB12(NM_080474:exon3:c.384+1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.444+1G>T;ENST00000269491:exon3:c.384+1G>T)	.	.	0.999985532734767	0.936
18	61226953	T	A	18	63559720	y	y	splicing	SERPINB12(NM_080474:exon3:c.384+2T>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.444+2T>A;ENST00000269491:exon3:c.384+2T>A)	.	.	0.999988247793601	0.926
18	61226953	T	C	18	63559720	y	y	splicing	SERPINB12(NM_080474:exon3:c.384+2T>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.444+2T>C;ENST00000269491:exon3:c.384+2T>C)	.	.	0.999874152059392	0.85
18	61226953	T	G	18	63559720	y	y	splicing	SERPINB12(NM_080474:exon3:c.384+2T>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon3:c.444+2T>G;ENST00000269491:exon3:c.384+2T>G)	.	.	0.999978952611685	0.928
18	61226954	G	A	18	63559721	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00104393934511422	0.03
18	61226954	G	C	18	63559721	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.625848911346186	0.586
18	61226954	G	T	18	63559721	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.534794782228213	0.506
18	61226955	A	C	18	63559722	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.698153461529143	0.464
18	61226955	A	G	18	63559722	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.427180410019267	0.396
18	61226955	A	T	18	63559722	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.959999771322674	0.634
18	61226956	G	A	18	63559723	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999753811673743	0.974
18	61226956	G	C	18	63559723	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.997355033209068	0.8
18	61226956	G	T	18	63559723	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.998749834484452	0.902
18	61226957	T	A	18	63559724	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0208892837380907	0.222
18	61226957	T	C	18	63559724	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0130911702789682	0.308
18	61226957	T	G	18	63559724	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0027999651911916	0.174
18	61226958	T	A	18	63559725	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.11009741525811E-4	0.0
18	61226958	T	C	18	63559725	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.11009741525811E-4	0.0
18	61226958	T	G	18	63559725	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.11009741525811E-4	0.0
18	61226959	G	A	18	63559726	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	7.84615609883526E-5	0.0
18	61226959	G	C	18	63559726	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	7.84615609883526E-5	0.0
18	61226959	G	T	18	63559726	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	7.84615609883526E-5	0.0
18	61228306	C	A	18	63561073	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.41741077224057E-4	0.062
18	61228306	C	G	18	63561073	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.07516178728613E-4	0.062
18	61228306	C	T	18	63561073	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.90330586270068E-5	0.03
18	61228307	C	A	18	63561074	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.33479704528422E-4	0.058
18	61228307	C	G	18	63561074	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.04627569482569E-4	0.076
18	61228307	C	T	18	63561074	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.28976517119918E-5	0.028
18	61228308	A	C	18	63561075	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.24665227578567E-5	0.004
18	61228308	A	G	18	63561075	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.24886597778132E-4	0.026
18	61228308	A	T	18	63561075	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.63104976829118E-5	0.018
18	61228309	A	C	18	63561076	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.93263881638447E-4	0.05
18	61228309	A	G	18	63561076	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999212000189675	0.966
18	61228309	A	T	18	63561076	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	7.26121570608074E-4	0.042
18	61228310	T	A	18	63561077	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.96978490765457	0.89
18	61228310	T	C	18	63561077	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.31445172485365E-5	0.014
18	61228310	T	G	18	63561077	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.96978490765457	0.888
18	61228311	G	A	18	63561078	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.935968013542094	0.966
18	61228311	G	C	18	63561078	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.0291873933743E-5	0.002
18	61228311	G	T	18	63561078	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.00684534904205E-5	0.018
18	61228312	G	A	18	63561079	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.13445807870749E-5	0.058
18	61228312	G	C	18	63561079	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.46575083845122E-5	0.07
18	61228312	G	T	18	63561079	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.0097246545528E-5	0.058
18	61228313	A	C	18	63561080	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.16214995036149E-5	0.014
18	61228313	A	G	18	63561080	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	9.26936618652269E-5	0.062
18	61228313	A	T	18	63561080	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.11492047861118E-5	0.142
18	61228314	A	C	18	63561081	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	9.09825586491751E-5	0.026
18	61228314	A	G	18	63561081	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.99280542495408	0.958
18	61228314	A	T	18	63561081	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.3099173125717E-4	0.024
18	61228315	C	A	18	63561082	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.989371554349289	0.804
18	61228315	C	G	18	63561082	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999363896230471	0.71
18	61228315	C	T	18	63561082	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0014956488611556	0.158
18	61228316	A	C	18	63561083	y	y	splicing	SERPINB12(NM_080474:exon4:c.385-2A>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.445-2A>C;ENST00000269491:exon4:c.385-2A>C)	.	.	0.999804983639994	0.826
18	61228316	A	G	18	63561083	y	y	splicing	SERPINB12(NM_080474:exon4:c.385-2A>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.445-2A>G;ENST00000269491:exon4:c.385-2A>G)	.	.	0.999804983639994	0.826
18	61228316	A	T	18	63561083	y	y	splicing	SERPINB12(NM_080474:exon4:c.385-2A>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.445-2A>T;ENST00000269491:exon4:c.385-2A>T)	.	.	0.999802041258096	0.832
18	61228317	G	A	18	63561084	y	y	splicing	SERPINB12(NM_080474:exon4:c.385-1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.445-1G>A;ENST00000269491:exon4:c.385-1G>A)	.	.	0.999841353768018	0.882
18	61228317	G	C	18	63561084	y	y	splicing	SERPINB12(NM_080474:exon4:c.385-1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.445-1G>C;ENST00000269491:exon4:c.385-1G>C)	.	.	0.999835820658859	0.876
18	61228317	G	T	18	63561084	y	y	splicing	SERPINB12(NM_080474:exon4:c.385-1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.445-1G>T;ENST00000269491:exon4:c.385-1G>T)	.	.	0.999841353768018	0.88
18	61228318	G	A	18	63561085	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.G385A:p.E129K;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.G385A:p.E129K;ENSG00000166634:ENST00000382768:exon4:c.G445A:p.E149K;	0.646917378237134	0.608
18	61228318	G	C	18	63561085	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.G385C:p.E129Q;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.G385C:p.E129Q;ENSG00000166634:ENST00000382768:exon4:c.G445C:p.E149Q;	0.400880725209246	0.65
18	61228318	G	T	18	63561085	y	y	exonic	SERPINB12	stopgain SNV	SERPINB12:NM_080474:exon4:c.G385T:p.E129X;	exonic	ENSG00000166634	stopgain SNV	ENSG00000166634:ENST00000269491:exon4:c.G385T:p.E129X;ENSG00000166634:ENST00000382768:exon4:c.G445T:p.E149X;	0.970351234384798	0.902
18	61228319	A	C	18	63561086	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.A386C:p.E129A;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A386C:p.E129A;ENSG00000166634:ENST00000382768:exon4:c.A446C:p.E149A;	5.14663805247833E-4	0.064
18	61228319	A	G	18	63561086	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.A386G:p.E129G;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A386G:p.E129G;ENSG00000166634:ENST00000382768:exon4:c.A446G:p.E149G;	3.30557149249569E-4	0.048
18	61228319	A	T	18	63561086	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.A386T:p.E129V;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A386T:p.E129V;ENSG00000166634:ENST00000382768:exon4:c.A446T:p.E149V;	4.44941052859083E-5	0.062
18	61228433	A	C	18	63561200	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.A500C:p.Q167P;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A500C:p.Q167P;ENSG00000166634:ENST00000382768:exon4:c.A560C:p.Q187P;	0.0175704003261397	0.12
18	61228433	A	G	18	63561200	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.A500G:p.Q167R;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A500G:p.Q167R;ENSG00000166634:ENST00000382768:exon4:c.A560G:p.Q187R;	7.91652256700158E-4	0.028
18	61228433	A	T	18	63561200	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.A500T:p.Q167L;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A500T:p.Q167L;ENSG00000166634:ENST00000382768:exon4:c.A560T:p.Q187L;	0.198695018529473	0.288
18	61228434	A	C	18	63561201	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.A501C:p.Q167H;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A501C:p.Q167H;ENSG00000166634:ENST00000382768:exon4:c.A561C:p.Q187H;	0.199515708375548	0.556
18	61228434	A	G	18	63561201	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon4:c.A501G:p.Q167Q;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A501G:p.Q167Q;ENSG00000166634:ENST00000382768:exon4:c.A561G:p.Q187Q;	0.13468722899611	0.27
18	61228434	A	T	18	63561201	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.A501T:p.Q167H;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.A501T:p.Q167H;ENSG00000166634:ENST00000382768:exon4:c.A561T:p.Q187H;	0.251747136477256	0.49
18	61228435	G	A	18	63561202	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.G502A:p.G168S;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.G502A:p.G168S;ENSG00000166634:ENST00000382768:exon4:c.G562A:p.G188S;	0.99997163132452	0.992
18	61228435	G	C	18	63561202	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.G502C:p.G168R;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.G502C:p.G168R;ENSG00000166634:ENST00000382768:exon4:c.G562C:p.G188R;	0.999984334528686	0.946
18	61228435	G	T	18	63561202	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon4:c.G502T:p.G168C;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon4:c.G502T:p.G168C;ENSG00000166634:ENST00000382768:exon4:c.G562T:p.G188C;	0.999949172628199	0.978
18	61228436	G	A	18	63561203	y	y	splicing	SERPINB12(NM_080474:exon4:c.502+1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.562+1G>A;ENST00000269491:exon4:c.502+1G>A)	.	.	0.999990361384395	0.938
18	61228436	G	C	18	63561203	y	y	splicing	SERPINB12(NM_080474:exon4:c.502+1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.562+1G>C;ENST00000269491:exon4:c.502+1G>C)	.	.	0.999990361384395	0.938
18	61228436	G	T	18	63561203	y	y	splicing	SERPINB12(NM_080474:exon4:c.502+1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.562+1G>T;ENST00000269491:exon4:c.502+1G>T)	.	.	0.999990361384395	0.938
18	61228437	T	A	18	63561204	y	y	splicing	SERPINB12(NM_080474:exon4:c.502+2T>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.562+2T>A;ENST00000269491:exon4:c.502+2T>A)	.	.	0.999988247793601	0.93
18	61228437	T	C	18	63561204	y	y	splicing	SERPINB12(NM_080474:exon4:c.502+2T>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.562+2T>C;ENST00000269491:exon4:c.502+2T>C)	.	.	0.987256086742815	0.684
18	61228437	T	G	18	63561204	y	y	splicing	SERPINB12(NM_080474:exon4:c.502+2T>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon4:c.562+2T>G;ENST00000269491:exon4:c.502+2T>G)	.	.	0.999978952611685	0.928
18	61228438	A	C	18	63561205	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.828639428639614	0.57
18	61228438	A	G	18	63561205	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00385891204259664	0.146
18	61228438	A	T	18	63561205	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.864583427296924	0.596
18	61228439	A	C	18	63561206	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0267683988652689	0.296
18	61228439	A	G	18	63561206	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.218194958698468	0.374
18	61228439	A	T	18	63561206	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0288335732623415	0.32
18	61228440	G	A	18	63561207	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.906595651911245	0.554
18	61228440	G	C	18	63561207	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.933480156093622	0.616
18	61228440	G	T	18	63561207	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.969829294158033	0.582
18	61228441	A	C	18	63561208	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.41947049300502E-4	0.042
18	61228441	A	G	18	63561208	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.70786210108346E-4	0.026
18	61228441	A	T	18	63561208	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.92651623584252E-5	0.006
18	61228442	A	C	18	63561209	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.58662744131228E-5	0.0
18	61228442	A	G	18	63561209	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.14419558760117E-5	0.0
18	61228442	A	T	18	63561209	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.51906241469623E-5	0.012
18	61228443	A	C	18	63561210	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.93008933363103E-5	0.0
18	61228443	A	G	18	63561210	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.93008933363103E-5	0.0
18	61228443	A	T	18	63561210	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.93008933363103E-5	0.0
18	61231199	A	C	18	63563966	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.78151211470716E-5	0.014
18	61231199	A	G	18	63563966	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.45114461463342E-5	0.014
18	61231199	A	T	18	63563966	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.78151211470716E-5	0.002
18	61231200	T	A	18	63563967	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0958001430097239	0.41
18	61231200	T	C	18	63563967	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	9.89508097691912E-4	0.036
18	61231200	T	G	18	63563967	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.997843561455403	0.892
18	61231201	C	A	18	63563968	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.21714915907391E-4	0.058
18	61231201	C	G	18	63563968	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.03911059970611E-4	0.046
18	61231201	C	T	18	63563968	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.30215576923022E-5	0.0
18	61231202	T	A	18	63563969	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0356187932805683	0.334
18	61231202	T	C	18	63563969	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.55233144073503E-5	0.006
18	61231202	T	G	18	63563969	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0199527153669498	0.346
18	61231203	T	A	18	63563970	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00156805591821015	0.072
18	61231203	T	C	18	63563970	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.61255672712555E-5	0.002
18	61231203	T	G	18	63563970	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.9123337002861E-4	0.046
18	61231204	T	A	18	63563971	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0792751617985279	0.272
18	61231204	T	C	18	63563971	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.49462434331676E-4	0.006
18	61231204	T	G	18	63563971	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0131265507936343	0.268
18	61231205	T	A	18	63563972	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00922381256567105	0.13
18	61231205	T	C	18	63563972	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.16532573211025E-5	0.0
18	61231205	T	G	18	63563972	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0339432632522518	0.194
18	61231206	T	A	18	63563973	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0488344289513589	0.222
18	61231206	T	C	18	63563973	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.70239924538608E-4	0.122
18	61231206	T	G	18	63563973	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0892177405753394	0.202
18	61231207	T	A	18	63563974	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.00829644509671E-4	0.0
18	61231207	T	C	18	63563974	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.1218072629845E-5	0.0
18	61231207	T	G	18	63563974	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.37024564724617E-4	0.002
18	61231208	T	A	18	63563975	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00499456387800703	0.14
18	61231208	T	C	18	63563975	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.70249209485528E-5	0.004
18	61231208	T	G	18	63563975	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.985040135969393	0.658
18	61231209	A	C	18	63563976	y	y	splicing	SERPINB12(NM_080474:exon5:c.503-2A>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.563-2A>C;ENST00000269491:exon5:c.503-2A>C)	.	.	0.999988247793601	0.93
18	61231209	A	G	18	63563976	y	y	splicing	SERPINB12(NM_080474:exon5:c.503-2A>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.563-2A>G;ENST00000269491:exon5:c.503-2A>G)	.	.	0.999988247793601	0.93
18	61231209	A	T	18	63563976	y	y	splicing	SERPINB12(NM_080474:exon5:c.503-2A>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.563-2A>T;ENST00000269491:exon5:c.503-2A>T)	.	.	0.999988247793601	0.93
18	61231210	G	A	18	63563977	y	y	splicing	SERPINB12(NM_080474:exon5:c.503-1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.563-1G>A;ENST00000269491:exon5:c.503-1G>A)	.	.	0.999990361384395	0.938
18	61231210	G	C	18	63563977	y	y	splicing	SERPINB12(NM_080474:exon5:c.503-1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.563-1G>C;ENST00000269491:exon5:c.503-1G>C)	.	.	0.999990361384395	0.936
18	61231210	G	T	18	63563977	y	y	splicing	SERPINB12(NM_080474:exon5:c.503-1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.563-1G>T;ENST00000269491:exon5:c.503-1G>T)	.	.	0.999990361384395	0.938
18	61231211	G	A	18	63563978	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.G503A:p.G168D;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G503A:p.G168D;ENSG00000166634:ENST00000382768:exon5:c.G563A:p.G188D;	0.999795526925632	0.912
18	61231211	G	C	18	63563978	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.G503C:p.G168A;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G503C:p.G168A;ENSG00000166634:ENST00000382768:exon5:c.G563C:p.G188A;	0.999831195961789	0.946
18	61231211	G	T	18	63563978	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.G503T:p.G168V;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G503T:p.G168V;ENSG00000166634:ENST00000382768:exon5:c.G563T:p.G188V;	0.999889404882997	0.998
18	61231212	T	A	18	63563979	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon5:c.T504A:p.G168G;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.T504A:p.G168G;ENSG00000166634:ENST00000382768:exon5:c.T564A:p.G188G;	4.51689723573552E-4	0.02
18	61231212	T	C	18	63563979	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon5:c.T504C:p.G168G;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.T504C:p.G168G;ENSG00000166634:ENST00000382768:exon5:c.T564C:p.G188G;	3.35098196125E-4	0.018
18	61231212	T	G	18	63563979	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon5:c.T504G:p.G168G;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.T504G:p.G168G;ENSG00000166634:ENST00000382768:exon5:c.T564G:p.G188G;	2.79328543379928E-4	0.01
18	61231351	G	A	18	63564118	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.G643A:p.A215T;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G643A:p.A215T;ENSG00000166634:ENST00000382768:exon5:c.G703A:p.A235T;	0.00347862381600154	0.076
18	61231351	G	C	18	63564118	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.G643C:p.A215P;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G643C:p.A215P;ENSG00000166634:ENST00000382768:exon5:c.G703C:p.A235P;	0.00418995046821206	0.076
18	61231351	G	T	18	63564118	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.G643T:p.A215S;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G643T:p.A215S;ENSG00000166634:ENST00000382768:exon5:c.G703T:p.A235S;	0.0109604457683156	0.262
18	61231352	C	A	18	63564119	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.C644A:p.A215E;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.C644A:p.A215E;ENSG00000166634:ENST00000382768:exon5:c.C704A:p.A235E;	2.02750558818236E-5	0.054
18	61231352	C	G	18	63564119	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.C644G:p.A215G;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.C644G:p.A215G;ENSG00000166634:ENST00000382768:exon5:c.C704G:p.A235G;	0.0425757084056322	0.132
18	61231352	C	T	18	63564119	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon5:c.C644T:p.A215V;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.C644T:p.A215V;ENSG00000166634:ENST00000382768:exon5:c.C704T:p.A235V;	0.0434836142319279	0.148
18	61231353	G	A	18	63564120	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon5:c.G645A:p.A215A;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G645A:p.A215A;ENSG00000166634:ENST00000382768:exon5:c.G705A:p.A235A;	0.999874748426713	0.94
18	61231353	G	C	18	63564120	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon5:c.G645C:p.A215A;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G645C:p.A215A;ENSG00000166634:ENST00000382768:exon5:c.G705C:p.A235A;	0.999955882747452	0.934
18	61231353	G	T	18	63564120	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon5:c.G645T:p.A215A;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon5:c.G645T:p.A215A;ENSG00000166634:ENST00000382768:exon5:c.G705T:p.A235A;	0.999860024105188	0.932
18	61231354	G	A	18	63564121	y	y	splicing	SERPINB12(NM_080474:exon5:c.645+1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.705+1G>A;ENST00000269491:exon5:c.645+1G>A)	.	.	0.999835790023977	0.86
18	61231354	G	C	18	63564121	y	y	splicing	SERPINB12(NM_080474:exon5:c.645+1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.705+1G>C;ENST00000269491:exon5:c.645+1G>C)	.	.	0.999831455321245	0.824
18	61231354	G	T	18	63564121	y	y	splicing	SERPINB12(NM_080474:exon5:c.645+1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.705+1G>T;ENST00000269491:exon5:c.645+1G>T)	.	.	0.999835790023977	0.862
18	61231355	T	A	18	63564122	y	y	splicing	SERPINB12(NM_080474:exon5:c.645+2T>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.705+2T>A;ENST00000269491:exon5:c.645+2T>A)	.	.	0.999871123278468	0.894
18	61231355	T	C	18	63564122	y	y	splicing	SERPINB12(NM_080474:exon5:c.645+2T>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.705+2T>C;ENST00000269491:exon5:c.645+2T>C)	.	.	0.995668535691522	0.73
18	61231355	T	G	18	63564122	y	y	splicing	SERPINB12(NM_080474:exon5:c.645+2T>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon5:c.705+2T>G;ENST00000269491:exon5:c.645+2T>G)	.	.	0.999866628302876	0.882
18	61231356	A	C	18	63564123	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999044402093021	0.906
18	61231356	A	G	18	63564123	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.980916262453284	0.716
18	61231356	A	T	18	63564123	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999539321443293	0.922
18	61231357	G	A	18	63564124	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	9.1528864574583E-5	0.024
18	61231357	G	C	18	63564124	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.20259164818555E-5	0.17
18	61231357	G	T	18	63564124	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	7.99193714930324E-5	0.068
18	61231358	T	A	18	63564125	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.61257056973525E-4	0.068
18	61231358	T	C	18	63564125	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	8.18917747437084E-5	0.066
18	61231358	T	G	18	63564125	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.58713546117953E-4	0.048
18	61231359	G	A	18	63564126	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.77981757039559E-5	0.038
18	61231359	G	C	18	63564126	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00103306991137059	0.112
18	61231359	G	T	18	63564126	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.69037301524197E-5	0.088
18	61231360	T	A	18	63564127	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	8.7260862155774E-5	0.022
18	61231360	T	C	18	63564127	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.25823594887903E-4	0.028
18	61231360	T	G	18	63564127	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.03442360997676E-4	0.036
18	61231361	A	C	18	63564128	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.04646248335252E-5	0.0
18	61231361	A	G	18	63564128	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.5175520128897E-5	0.006
18	61231361	A	T	18	63564128	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.04646248335252E-5	0.0
18	61232666	T	A	18	63565433	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999971504127642	0.974
18	61232666	T	C	18	63565433	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00120353186108059	0.048
18	61232666	T	G	18	63565433	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.110268416167004	0.296
18	61232667	G	A	18	63565434	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.67944964801568E-4	0.012
18	61232667	G	C	18	63565434	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.82001191484095E-5	0.0
18	61232667	G	T	18	63565434	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.03720586241273E-5	0.002
18	61232668	A	C	18	63565435	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.1200447447411E-5	0.006
18	61232668	A	G	18	63565435	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.49559406162118E-4	0.01
18	61232668	A	T	18	63565435	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	8.51212885600587E-5	0.02
18	61232669	C	A	18	63565436	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0251874129080787	0.096
18	61232669	C	G	18	63565436	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999926042708708	0.97
18	61232669	C	T	18	63565436	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.42997252996786E-4	0.04
18	61232670	T	A	18	63565437	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0119583900484465	0.244
18	61232670	T	C	18	63565437	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	6.36037089567985E-5	0.004
18	61232670	T	G	18	63565437	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0198956541727038	0.332
18	61232671	A	C	18	63565438	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.00684534904205E-5	0.01
18	61232671	A	G	18	63565438	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.07014835428848E-5	0.002
18	61232671	A	T	18	63565438	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.00684534904205E-5	0.008
18	61232672	C	A	18	63565439	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0024446032150214	0.228
18	61232672	C	G	18	63565439	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999781246176737	0.95
18	61232672	C	T	18	63565439	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.77014603850313E-5	0.018
18	61232673	T	A	18	63565440	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.304021479746287	0.466
18	61232673	T	C	18	63565440	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.69550208332388E-4	0.106
18	61232673	T	G	18	63565440	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.912868285891828	0.51
18	61232674	A	C	18	63565441	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.17454017305863E-5	0.028
18	61232674	A	G	18	63565441	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.95773824087429E-4	0.068
18	61232674	A	T	18	63565441	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.13789211725775E-4	0.01
18	61232675	C	A	18	63565442	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.998623097830921	0.938
18	61232675	C	G	18	63565442	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999422860754427	0.838
18	61232675	C	T	18	63565442	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00315369534647645	0.092
18	61232676	A	C	18	63565443	y	y	splicing	SERPINB12(NM_080474:exon6:c.646-2A>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.706-2A>C;ENST00000269491:exon6:c.646-2A>C)	.	.	0.99994568797423	0.934
18	61232676	A	G	18	63565443	y	y	splicing	SERPINB12(NM_080474:exon6:c.646-2A>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.706-2A>G;ENST00000269491:exon6:c.646-2A>G)	.	.	0.99994568797423	0.934
18	61232676	A	T	18	63565443	y	y	splicing	SERPINB12(NM_080474:exon6:c.646-2A>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.706-2A>T;ENST00000269491:exon6:c.646-2A>T)	.	.	0.99994568797423	0.93
18	61232677	G	A	18	63565444	y	y	splicing	SERPINB12(NM_080474:exon6:c.646-1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.706-1G>A;ENST00000269491:exon6:c.646-1G>A)	.	.	0.99993314117114	0.928
18	61232677	G	C	18	63565444	y	y	splicing	SERPINB12(NM_080474:exon6:c.646-1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.706-1G>C;ENST00000269491:exon6:c.646-1G>C)	.	.	0.99993314117114	0.938
18	61232677	G	T	18	63565444	y	y	splicing	SERPINB12(NM_080474:exon6:c.646-1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.706-1G>T;ENST00000269491:exon6:c.646-1G>T)	.	.	0.99993314117114	0.934
18	61232678	A	C	18	63565445	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A646C:p.N216H;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A646C:p.N216H;ENSG00000166634:ENST00000382768:exon6:c.A706C:p.N236H;	0.0201626304468194	0.094
18	61232678	A	G	18	63565445	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A646G:p.N216D;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A646G:p.N216D;ENSG00000166634:ENST00000382768:exon6:c.A706G:p.N236D;	3.05804899101769E-4	0.01
18	61232678	A	T	18	63565445	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A646T:p.N216Y;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A646T:p.N216Y;ENSG00000166634:ENST00000382768:exon6:c.A706T:p.N236Y;	0.0362241853176625	0.258
18	61232679	A	C	18	63565446	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A647C:p.N216T;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A647C:p.N216T;ENSG00000166634:ENST00000382768:exon6:c.A707C:p.N236T;	0.0024196621861909	0.118
18	61232679	A	G	18	63565446	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A647G:p.N216S;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A647G:p.N216S;ENSG00000166634:ENST00000382768:exon6:c.A707G:p.N236S;	3.2176296981754E-4	0.022
18	61232679	A	T	18	63565446	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A647T:p.N216I;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A647T:p.N216I;ENSG00000166634:ENST00000382768:exon6:c.A707T:p.N236I;	0.00282864077675421	0.108
18	61232843	G	A	18	63565610	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.G811A:p.E271K;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.G811A:p.E271K;ENSG00000166634:ENST00000382768:exon6:c.G871A:p.E291K;	0.00103246358336555	0.034
18	61232843	G	C	18	63565610	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.G811C:p.E271Q;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.G811C:p.E271Q;ENSG00000166634:ENST00000382768:exon6:c.G871C:p.E291Q;	0.00140224863102046	0.036
18	61232843	G	T	18	63565610	y	y	exonic	SERPINB12	stopgain SNV	SERPINB12:NM_080474:exon6:c.G811T:p.E271X;	exonic	ENSG00000166634	stopgain SNV	ENSG00000166634:ENST00000269491:exon6:c.G811T:p.E271X;ENSG00000166634:ENST00000382768:exon6:c.G871T:p.E291X;	0.979893251309087	0.742
18	61232844	A	C	18	63565611	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A812C:p.E271A;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A812C:p.E271A;ENSG00000166634:ENST00000382768:exon6:c.A872C:p.E291A;	0.997832734287164	0.9
18	61232844	A	G	18	63565611	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A812G:p.E271G;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A812G:p.E271G;ENSG00000166634:ENST00000382768:exon6:c.A872G:p.E291G;	0.99977544428375	0.988
18	61232844	A	T	18	63565611	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.A812T:p.E271V;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.A812T:p.E271V;ENSG00000166634:ENST00000382768:exon6:c.A872T:p.E291V;	0.999770720064366	0.99
18	61232845	G	A	18	63565612	y	y	exonic	SERPINB12	synonymous SNV	SERPINB12:NM_080474:exon6:c.G813A:p.E271E;	exonic	ENSG00000166634	synonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.G813A:p.E271E;ENSG00000166634:ENST00000382768:exon6:c.G873A:p.E291E;	0.999633097481865	0.968
18	61232845	G	C	18	63565612	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.G813C:p.E271D;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.G813C:p.E271D;ENSG00000166634:ENST00000382768:exon6:c.G873C:p.E291D;	0.999998716801252	0.998
18	61232845	G	T	18	63565612	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon6:c.G813T:p.E271D;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon6:c.G813T:p.E271D;ENSG00000166634:ENST00000382768:exon6:c.G873T:p.E291D;	0.999987444876257	0.998
18	61232846	G	A	18	63565613	y	y	splicing	SERPINB12(NM_080474:exon6:c.813+1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.873+1G>A;ENST00000269491:exon6:c.813+1G>A)	.	.	0.999949496871441	0.932
18	61232846	G	C	18	63565613	y	y	splicing	SERPINB12(NM_080474:exon6:c.813+1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.873+1G>C;ENST00000269491:exon6:c.813+1G>C)	.	.	0.999949496871441	0.942
18	61232846	G	T	18	63565613	y	y	splicing	SERPINB12(NM_080474:exon6:c.813+1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.873+1G>T;ENST00000269491:exon6:c.813+1G>T)	.	.	0.999949496871441	0.932
18	61232847	T	A	18	63565614	y	y	splicing	SERPINB12(NM_080474:exon6:c.813+2T>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.873+2T>A;ENST00000269491:exon6:c.813+2T>A)	.	.	0.999755454643826	0.85
18	61232847	T	C	18	63565614	y	y	splicing	SERPINB12(NM_080474:exon6:c.813+2T>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.873+2T>C;ENST00000269491:exon6:c.813+2T>C)	.	.	0.894565713793948	0.548
18	61232847	T	G	18	63565614	y	y	splicing	SERPINB12(NM_080474:exon6:c.813+2T>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon6:c.873+2T>G;ENST00000269491:exon6:c.813+2T>G)	.	.	0.999853990165324	0.868
18	61232848	A	C	18	63565615	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999450010255209	0.83
18	61232848	A	G	18	63565615	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.582416518499477	0.502
18	61232848	A	T	18	63565615	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.998123784027936	0.74
18	61232849	A	C	18	63565616	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.362974772667266	0.344
18	61232849	A	G	18	63565616	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.341536757927668	0.336
18	61232849	A	T	18	63565616	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.208167405634958	0.336
18	61232850	A	C	18	63565617	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.34456696703896E-5	0.01
18	61232850	A	G	18	63565617	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.2137862096824E-5	0.02
18	61232850	A	T	18	63565617	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.7563764685727E-5	0.002
18	61232851	T	A	18	63565618	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00754570258971801	0.222
18	61232851	T	C	18	63565618	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0166066322031901	0.342
18	61232851	T	G	18	63565618	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.1101957061332E-4	0.152
18	61232852	C	A	18	63565619	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.84251655511786E-5	0.024
18	61232852	C	G	18	63565619	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.21125589533626E-4	0.018
18	61232852	C	T	18	63565619	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.39284806790103E-4	0.018
18	61232853	T	A	18	63565620	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.73958162046212E-5	0.0
18	61232853	T	C	18	63565620	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.73958162046212E-5	0.0
18	61232853	T	G	18	63565620	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.85096237301136E-5	0.0
18	61233828	T	A	18	63566595	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.07201297781859E-4	0.146
18	61233828	T	C	18	63566595	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.78902306548661E-4	0.032
18	61233828	T	G	18	63566595	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.0531502546641E-4	0.158
18	61233829	T	A	18	63566596	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00202784443915647	0.252
18	61233829	T	C	18	63566596	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.5085701566112E-4	0.078
18	61233829	T	G	18	63566596	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	4.48261178001161E-4	0.154
18	61233830	C	A	18	63566597	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.64450526175635E-4	0.058
18	61233830	C	G	18	63566597	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	7.69009444339959E-5	0.01
18	61233830	C	T	18	63566597	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.36872976877809E-5	0.0
18	61233831	C	A	18	63566598	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	9.77245926888619E-5	0.026
18	61233831	C	G	18	63566598	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.23756420759283E-5	0.034
18	61233831	C	T	18	63566598	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.33397199959942E-5	0.006
18	61233832	T	A	18	63566599	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.8365023177316E-4	0.044
18	61233832	T	C	18	63566599	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.30081568572069E-5	0.002
18	61233832	T	G	18	63566599	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.19919396165519E-4	0.038
18	61233833	C	A	18	63566600	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.03786973122725E-4	0.046
18	61233833	C	G	18	63566600	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	1.03786973122725E-4	0.044
18	61233833	C	T	18	63566600	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.31192090187763E-5	0.002
18	61233834	T	A	18	63566601	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00276559744352827	0.186
18	61233834	T	C	18	63566601	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.43822617874987E-5	0.022
18	61233834	T	G	18	63566601	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	5.08288534168624E-4	0.184
18	61233835	T	A	18	63566602	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.999171742509087	0.91
18	61233835	T	C	18	63566602	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.00212849686728045	0.086
18	61233835	T	G	18	63566602	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0171559165859897	0.35
18	61233836	G	A	18	63566603	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.7751025552806E-5	0.0
18	61233836	G	C	18	63566603	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	3.22902615235423E-5	0.008
18	61233836	G	T	18	63566603	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	2.93897633413765E-5	0.0
18	61233837	T	A	18	63566604	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.0083254819615878	0.142
18	61233837	T	C	18	63566604	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	8.88120921381569E-5	0.028
18	61233837	T	G	18	63566604	y	y	intronic	SERPINB12	.	.	intronic	ENSG00000166634	.	.	0.99732866179064	0.706
18	61233838	A	C	18	63566605	y	y	splicing	SERPINB12(NM_080474:exon7:c.814-2A>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon7:c.874-2A>C;ENST00000269491:exon7:c.814-2A>C)	.	.	0.999946188727699	0.946
18	61233838	A	G	18	63566605	y	y	splicing	SERPINB12(NM_080474:exon7:c.814-2A>G)	.	.	splicing	ENSG00000166634(ENST00000382768:exon7:c.874-2A>G;ENST00000269491:exon7:c.814-2A>G)	.	.	0.999946188727699	0.946
18	61233838	A	T	18	63566605	y	y	splicing	SERPINB12(NM_080474:exon7:c.814-2A>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon7:c.874-2A>T;ENST00000269491:exon7:c.814-2A>T)	.	.	0.999946188727699	0.948
18	61233839	G	A	18	63566606	y	y	splicing	SERPINB12(NM_080474:exon7:c.814-1G>A)	.	.	splicing	ENSG00000166634(ENST00000382768:exon7:c.874-1G>A;ENST00000269491:exon7:c.814-1G>A)	.	.	0.99995545544995	0.948
18	61233839	G	C	18	63566606	y	y	splicing	SERPINB12(NM_080474:exon7:c.814-1G>C)	.	.	splicing	ENSG00000166634(ENST00000382768:exon7:c.874-1G>C;ENST00000269491:exon7:c.814-1G>C)	.	.	0.99995586615188	0.948
18	61233839	G	T	18	63566606	y	y	splicing	SERPINB12(NM_080474:exon7:c.814-1G>T)	.	.	splicing	ENSG00000166634(ENST00000382768:exon7:c.874-1G>T;ENST00000269491:exon7:c.814-1G>T)	.	.	0.99995545544995	0.948
18	61233840	C	A	18	63566607	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon7:c.C814A:p.L272I;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon7:c.C814A:p.L272I;ENSG00000166634:ENST00000382768:exon7:c.C874A:p.L292I;	5.00539993811954E-4	0.008
18	61233840	C	G	18	63566607	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon7:c.C814G:p.L272V;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon7:c.C814G:p.L272V;ENSG00000166634:ENST00000382768:exon7:c.C874G:p.L292V;	8.44937344859898E-4	0.082
18	61233840	C	T	18	63566607	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon7:c.C814T:p.L272F;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon7:c.C814T:p.L272F;ENSG00000166634:ENST00000382768:exon7:c.C874T:p.L292F;	0.00843761057031169	0.358
18	61233841	T	A	18	63566608	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon7:c.T815A:p.L272H;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon7:c.T815A:p.L272H;ENSG00000166634:ENST00000382768:exon7:c.T875A:p.L292H;	0.299399650506443	0.382
18	61233841	T	C	18	63566608	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon7:c.T815C:p.L272P;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon7:c.T815C:p.L272P;ENSG00000166634:ENST00000382768:exon7:c.T875C:p.L292P;	0.119279035919852	0.318
18	61233841	T	G	18	63566608	y	y	exonic	SERPINB12	nonsynonymous SNV	SERPINB12:NM_080474:exon7:c.T815G:p.L272R;	exonic	ENSG00000166634	nonsynonymous SNV	ENSG00000166634:ENST00000269491:exon7:c.T815G:p.L272R;ENSG00000166634:ENST00000382768:exon7:c.T875G:p.L292R;	0.324330491661342	0.384
18	61254359	G	A	18	63587125	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon1:c.G32A:p.C11Y;	8.74094660865297E-5	0.0
18	61254359	G	C	18	63587125	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon1:c.G32C:p.C11S;	4.80924373634625E-5	0.0
18	61254359	G	T	18	63587125	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon1:c.G32T:p.C11F;	7.91977281725624E-5	0.0
18	61254360	T	A	18	63587126	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	stopgain SNV	ENSG00000197641:ENST00000431153:exon1:c.T33A:p.C11X;	1.47675532943788E-4	0.086
18	61254360	T	C	18	63587126	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon1:c.T33C:p.C11C;	8.67378569920084E-5	0.002
18	61254360	T	G	18	63587126	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon1:c.T33G:p.C11W;	8.67378569920084E-5	0.002
18	61254361	G	A	18	63587127	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon1:c.G34A:p.V12I;	7.40704031316793E-5	0.004
18	61254361	G	C	18	63587127	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon1:c.G34C:p.V12L;	6.36567682305367E-5	0.004
18	61254361	G	T	18	63587127	n	y	upstream	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon1:c.G34T:p.V12F;	3.75289494538373E-5	0.004
18	61254362	G	A	18	63587128	n	y	upstream	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon1:c.34+1G>A)	.	.	5.04349982970396E-5	0.002
18	61254362	G	C	18	63587128	n	y	upstream	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon1:c.34+1G>C)	.	.	5.04349982970396E-5	0.002
18	61254362	G	T	18	63587128	n	y	upstream	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon1:c.34+1G>T)	.	.	5.04349982970396E-5	0.002
18	61254363	T	A	18	63587129	n	y	upstream	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon1:c.34+2T>A)	.	.	5.12372629638807E-5	0.0
18	61254363	T	C	18	63587129	n	y	upstream	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon1:c.34+2T>C)	.	.	3.85062238621114E-5	0.0
18	61254363	T	G	18	63587129	n	y	upstream	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon1:c.34+2T>G)	.	.	3.85062238621114E-5	0.0
18	61254364	A	C	18	63587130	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.9469183429777E-5	0.0
18	61254364	A	G	18	63587130	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.9469183429777E-5	0.0
18	61254364	A	T	18	63587130	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.9469183429777E-5	0.0
18	61254365	A	C	18	63587131	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.76357584838511E-5	0.048
18	61254365	A	G	18	63587131	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.76357584838511E-5	0.048
18	61254365	A	T	18	63587131	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.76357584838511E-5	0.048
18	61254366	G	A	18	63587132	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.57076726553018E-5	0.0
18	61254366	G	C	18	63587132	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.57076726553018E-5	0.0
18	61254366	G	T	18	63587132	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.57076726553018E-5	0.0
18	61254367	T	A	18	63587133	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.52086759380612E-5	0.04
18	61254367	T	C	18	63587133	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.52086759380612E-5	0.042
18	61254367	T	G	18	63587133	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.52086759380612E-5	0.042
18	61254368	A	C	18	63587134	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	8.53292460361593E-5	0.008
18	61254368	A	G	18	63587134	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	8.53292460361593E-5	0.008
18	61254368	A	T	18	63587134	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.38113264713725E-5	0.016
18	61254369	A	C	18	63587135	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.02642503822698E-5	0.006
18	61254369	A	G	18	63587135	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.02642503822698E-5	0.01
18	61254369	A	T	18	63587135	n	y	upstream	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.02642503822698E-5	0.004
18	61254634	T	A	18	63587400	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.0288925866825E-5	0.002
18	61254634	T	C	18	63587400	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.0288925866825E-5	0.002
18	61254634	T	G	18	63587400	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.0288925866825E-5	0.004
18	61254635	A	C	18	63587401	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.66254380649332E-5	0.0
18	61254635	A	G	18	63587401	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.66254380649332E-5	0.0
18	61254635	A	T	18	63587401	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.66254380649332E-5	0.0
18	61254636	T	A	18	63587402	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.99153316237132E-5	0.0
18	61254636	T	C	18	63587402	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.99153316237132E-5	0.0
18	61254636	T	G	18	63587402	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.99153316237132E-5	0.0
18	61254637	G	A	18	63587403	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	5.72365104571721E-5	0.008
18	61254637	G	C	18	63587403	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	3.70552093357571E-5	0.006
18	61254637	G	T	18	63587403	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	3.70552093357571E-5	0.008
18	61254638	C	A	18	63587404	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.05746745428764E-5	0.002
18	61254638	C	G	18	63587404	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.05746745428764E-5	0.002
18	61254638	C	T	18	63587404	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.05746745428764E-5	0.002
18	61254639	T	A	18	63587405	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.49453169148861E-5	0.018
18	61254639	T	C	18	63587405	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.49453169148861E-5	0.014
18	61254639	T	G	18	63587405	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.49453169148861E-5	0.014
18	61254640	T	A	18	63587406	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.49453169148861E-5	0.018
18	61254640	T	C	18	63587406	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.49453169148861E-5	0.012
18	61254640	T	G	18	63587406	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.49453169148861E-5	0.012
18	61254641	C	A	18	63587407	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.45892698382496E-5	0.0
18	61254641	C	G	18	63587407	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.45892698382496E-5	0.0
18	61254641	C	T	18	63587407	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.45892698382496E-5	0.0
18	61254642	C	A	18	63587408	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.32964398316374E-5	0.002
18	61254642	C	G	18	63587408	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.32964398316374E-5	0.002
18	61254642	C	T	18	63587408	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	2.32964398316374E-5	0.002
18	61254643	T	A	18	63587409	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.44750248965781E-5	0.0
18	61254643	T	C	18	63587409	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.44750248965781E-5	0.0
18	61254643	T	G	18	63587409	n	y	UTR5	SERPINB13	.	.	UTR5	ENSG00000197641	.	.	1.44750248965781E-5	0.0
18	61254644	A	C	18	63587410	n	y	UTR5	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.35-2A>C)	.	.	8.9205579791821E-5	0.004
18	61254644	A	G	18	63587410	n	y	UTR5	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.35-2A>G)	.	.	8.9205579791821E-5	0.004
18	61254644	A	T	18	63587410	n	y	UTR5	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.35-2A>T)	.	.	8.9205579791821E-5	0.004
18	61254645	G	A	18	63587411	n	y	UTR5	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.35-1G>A)	.	.	8.19204997435916E-5	0.032
18	61254645	G	C	18	63587411	n	y	UTR5	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.35-1G>C)	.	.	8.19204997435916E-5	0.032
18	61254645	G	T	18	63587411	n	y	UTR5	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.35-1G>T)	.	.	8.19204997435916E-5	0.032
18	61254646	T	A	18	63587412	n	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.T35A:p.V12D;	1.44750248965781E-5	0.0
18	61254646	T	C	18	63587412	n	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.T35C:p.V12A;	1.44750248965781E-5	0.0
18	61254646	T	G	18	63587412	n	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.T35G:p.V12G;	1.44750248965781E-5	0.0
18	61254647	T	A	18	63587413	n	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.T36A:p.V12V;	6.09337574150394E-6	0.004
18	61254647	T	C	18	63587413	n	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.T36C:p.V12V;	6.09337574150394E-6	0.0
18	61254647	T	G	18	63587413	n	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.T36G:p.V12V;	6.09337574150394E-6	0.0
18	61254682	G	A	18	63587448	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.G71A:p.R24Q;	6.90945998109309E-5	0.016
18	61254682	G	C	18	63587448	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.G71C:p.R24P;	1.26318980076793E-4	0.022
18	61254682	G	T	18	63587448	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.G71T:p.R24L;	9.13458079078738E-5	0.02
18	61254683	A	C	18	63587449	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.A72C:p.R24R;	0.0113884033822295	0.344
18	61254683	A	G	18	63587449	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.A72G:p.R24R;	0.0213568955786304	0.216
18	61254683	A	T	18	63587449	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.A72T:p.R24R;	0.0155315595334205	0.352
18	61254684	G	A	18	63587450	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.G73A:p.G25S;	0.0599452309561646	0.296
18	61254684	G	C	18	63587450	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.G73C:p.G25R;	0.159168467266345	0.514
18	61254684	G	T	18	63587450	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon2:c.G73T:p.G25C;	0.0472320992614949	0.358
18	61254685	G	A	18	63587451	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.73+1G>A)	.	.	0.999962716029817	0.864
18	61254685	G	C	18	63587451	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.73+1G>C)	.	.	0.999954401362567	0.822
18	61254685	G	T	18	63587451	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.73+1G>T)	.	.	0.999954401362567	0.856
18	61254686	T	A	18	63587452	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.73+2T>A)	.	.	0.999972155025474	0.868
18	61254686	T	C	18	63587452	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.73+2T>C)	.	.	0.941262618117329	0.574
18	61254686	T	G	18	63587452	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon2:c.73+2T>G)	.	.	0.999969255906173	0.844
18	61254687	A	C	18	63587453	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.618338097643152	0.574
18	61254687	A	G	18	63587453	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00137950141936284	0.08
18	61254687	A	T	18	63587453	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.42970402806845	0.548
18	61254688	A	C	18	63587454	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0414746698038003	0.276
18	61254688	A	G	18	63587454	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.041043341290733	0.314
18	61254688	A	T	18	63587454	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0382097762515716	0.244
18	61254689	G	A	18	63587455	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.825702620842301	0.592
18	61254689	G	C	18	63587455	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.887705952165172	0.572
18	61254689	G	T	18	63587455	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.848029621525398	0.538
18	61254690	T	A	18	63587456	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0650975807319742	0.3
18	61254690	T	C	18	63587456	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0416559490400627	0.314
18	61254690	T	G	18	63587456	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0050624515261577	0.194
18	61254691	T	A	18	63587457	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.33815804894828E-5	0.0
18	61254691	T	C	18	63587457	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.33815804894828E-5	0.0
18	61254691	T	G	18	63587457	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.33815804894828E-5	0.0
18	61254692	C	A	18	63587458	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.90372362781104E-4	0.036
18	61254692	C	G	18	63587458	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.83822605169383E-4	0.036
18	61254692	C	T	18	63587458	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.90372362781104E-4	0.042
18	61255873	T	A	18	63588639	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.410095871593934	0.51
18	61255873	T	C	18	63588639	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00740220721638322	0.134
18	61255873	T	G	18	63588639	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.433222160826322	0.532
18	61255874	T	A	18	63588640	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.998201194998491	0.902
18	61255874	T	C	18	63588640	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.87733953741916E-4	0.046
18	61255874	T	G	18	63588640	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.11924667262545	0.33
18	61255875	G	A	18	63588641	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.16533682930033E-5	0.02
18	61255875	G	C	18	63588641	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.96783553053573E-4	0.008
18	61255875	G	T	18	63588641	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.72840590658853E-4	0.004
18	61255876	C	A	18	63588642	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00322174168332233	0.056
18	61255876	C	G	18	63588642	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00111235710208676	0.082
18	61255876	C	T	18	63588642	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.23495006741718E-5	0.0
18	61255877	T	A	18	63588643	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0920489141096537	0.268
18	61255877	T	C	18	63588643	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.67813712815902E-4	0.0
18	61255877	T	G	18	63588643	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0122041247102192	0.238
18	61255878	A	C	18	63588644	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.7375971549983E-5	0.002
18	61255878	A	G	18	63588644	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.83449267465081E-5	0.002
18	61255878	A	T	18	63588644	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.15338235726998E-5	0.0
18	61255879	T	A	18	63588645	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0915550002072887	0.356
18	61255879	T	C	18	63588645	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.13148214260312E-4	0.078
18	61255879	T	G	18	63588645	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999803898332685	0.938
18	61255880	T	A	18	63588646	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.58858829584025	0.426
18	61255880	T	C	18	63588646	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00101185527249912	0.09
18	61255880	T	G	18	63588646	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.403924979815937	0.394
18	61255881	C	A	18	63588647	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.90740161577987E-5	0.0
18	61255881	C	G	18	63588647	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.80817664605507E-4	0.09
18	61255881	C	T	18	63588647	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.08504015545751E-5	0.014
18	61255882	T	A	18	63588648	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0149620495856238	0.284
18	61255882	T	C	18	63588648	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.26691113898374E-4	0.032
18	61255882	T	G	18	63588648	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.734270470965177	0.668
18	61255883	A	C	18	63588649	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.74-2A>C)	.	.	0.999982151912279	0.882
18	61255883	A	G	18	63588649	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.74-2A>G)	.	.	0.999972871252391	0.882
18	61255883	A	T	18	63588649	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.74-2A>T)	.	.	0.999982151912279	0.892
18	61255884	G	A	18	63588650	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.74-1G>A)	.	.	0.99996748057446	0.908
18	61255884	G	C	18	63588650	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.74-1G>C)	.	.	0.999968430223941	0.886
18	61255884	G	T	18	63588650	y	y	splicing	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.74-1G>T)	.	.	0.999969242257053	0.876
18	61255885	G	A	18	63588651	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon3:c.G74A:p.G25D;	0.00562185225118651	0.15
18	61255885	G	C	18	63588651	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon3:c.G74C:p.G25A;	0.0138340483750949	0.352
18	61255885	G	T	18	63588651	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000431153:exon3:c.G74T:p.G25V;	0.125918787360517	0.37
18	61255886	T	A	18	63588652	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon3:c.T75A:p.G25G;	6.18274440960376E-4	0.106
18	61255886	T	C	18	63588652	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon3:c.T75C:p.G25G;	4.33814022037324E-4	0.134
18	61255886	T	G	18	63588652	y	y	UTR5	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000431153:exon3:c.T75G:p.G25G;	6.85158420904683E-4	0.156
18	61256064	G	A	18	63588830	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon2:c.G163A:p.E55K;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon2:c.G163A:p.E55K;ENSG00000197641:ENST00000415733:exon1:c.G100A:p.E34K;ENSG00000197641:ENST00000431153:exon3:c.G253A:p.E85K;ENSG00000197641:ENST00000269489:exon2:c.G163A:p.E55K;ENSG00000197641:ENST00000438844:exon2:c.G163A:p.E55K;	1.89173453617004E-5	0.02
18	61256064	G	C	18	63588830	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon2:c.G163C:p.E55Q;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon2:c.G163C:p.E55Q;ENSG00000197641:ENST00000415733:exon1:c.G100C:p.E34Q;ENSG00000197641:ENST00000431153:exon3:c.G253C:p.E85Q;ENSG00000197641:ENST00000269489:exon2:c.G163C:p.E55Q;ENSG00000197641:ENST00000438844:exon2:c.G163C:p.E55Q;	2.95496760346706E-5	0.01
18	61256064	G	T	18	63588830	y	y	exonic	SERPINB13	stopgain SNV	SERPINB13:NM_012397:exon2:c.G163T:p.E55X;	exonic	ENSG00000197641	stopgain SNV	ENSG00000197641:ENST00000344731:exon2:c.G163T:p.E55X;ENSG00000197641:ENST00000415733:exon1:c.G100T:p.E34X;ENSG00000197641:ENST00000431153:exon3:c.G253T:p.E85X;ENSG00000197641:ENST00000269489:exon2:c.G163T:p.E55X;ENSG00000197641:ENST00000438844:exon2:c.G163T:p.E55X;	9.41756422353355E-4	0.224
18	61256065	A	C	18	63588831	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon2:c.A164C:p.E55A;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon2:c.A164C:p.E55A;ENSG00000197641:ENST00000415733:exon1:c.A101C:p.E34A;ENSG00000197641:ENST00000431153:exon3:c.A254C:p.E85A;ENSG00000197641:ENST00000269489:exon2:c.A164C:p.E55A;ENSG00000197641:ENST00000438844:exon2:c.A164C:p.E55A;	0.998911265388945	0.938
18	61256065	A	G	18	63588831	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon2:c.A164G:p.E55G;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon2:c.A164G:p.E55G;ENSG00000197641:ENST00000415733:exon1:c.A101G:p.E34G;ENSG00000197641:ENST00000431153:exon3:c.A254G:p.E85G;ENSG00000197641:ENST00000269489:exon2:c.A164G:p.E55G;ENSG00000197641:ENST00000438844:exon2:c.A164G:p.E55G;	0.999191895141975	0.92
18	61256065	A	T	18	63588831	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon2:c.A164T:p.E55V;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon2:c.A164T:p.E55V;ENSG00000197641:ENST00000415733:exon1:c.A101T:p.E34V;ENSG00000197641:ENST00000431153:exon3:c.A254T:p.E85V;ENSG00000197641:ENST00000269489:exon2:c.A164T:p.E55V;ENSG00000197641:ENST00000438844:exon2:c.A164T:p.E55V;	0.998999404017698	0.948
18	61256066	G	A	18	63588832	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon2:c.G165A:p.E55E;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon2:c.G165A:p.E55E;ENSG00000197641:ENST00000415733:exon1:c.G102A:p.E34E;ENSG00000197641:ENST00000431153:exon3:c.G255A:p.E85E;ENSG00000197641:ENST00000269489:exon2:c.G165A:p.E55E;ENSG00000197641:ENST00000438844:exon2:c.G165A:p.E55E;	0.999961911621812	0.986
18	61256066	G	C	18	63588832	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon2:c.G165C:p.E55D;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon2:c.G165C:p.E55D;ENSG00000197641:ENST00000415733:exon1:c.G102C:p.E34D;ENSG00000197641:ENST00000431153:exon3:c.G255C:p.E85D;ENSG00000197641:ENST00000269489:exon2:c.G165C:p.E55D;ENSG00000197641:ENST00000438844:exon2:c.G165C:p.E55D;	0.999983425475096	0.992
18	61256066	G	T	18	63588832	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon2:c.G165T:p.E55D;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon2:c.G165T:p.E55D;ENSG00000197641:ENST00000415733:exon1:c.G102T:p.E34D;ENSG00000197641:ENST00000431153:exon3:c.G255T:p.E85D;ENSG00000197641:ENST00000269489:exon2:c.G165T:p.E55D;ENSG00000197641:ENST00000438844:exon2:c.G165T:p.E55D;	0.999929348249128	0.988
18	61256067	G	A	18	63588833	y	y	splicing	SERPINB13(NM_012397:exon2:c.165+1G>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.255+1G>A;ENST00000269489:exon2:c.165+1G>A;ENST00000344731:exon2:c.165+1G>A;ENST00000438844:exon2:c.165+1G>A;ENST00000415733:exon1:c.102+1G>A)	.	.	0.999973718320433	0.892
18	61256067	G	C	18	63588833	y	y	splicing	SERPINB13(NM_012397:exon2:c.165+1G>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.255+1G>C;ENST00000269489:exon2:c.165+1G>C;ENST00000344731:exon2:c.165+1G>C;ENST00000438844:exon2:c.165+1G>C;ENST00000415733:exon1:c.102+1G>C)	.	.	0.999951861544682	0.876
18	61256067	G	T	18	63588833	y	y	splicing	SERPINB13(NM_012397:exon2:c.165+1G>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.255+1G>T;ENST00000269489:exon2:c.165+1G>T;ENST00000344731:exon2:c.165+1G>T;ENST00000438844:exon2:c.165+1G>T;ENST00000415733:exon1:c.102+1G>T)	.	.	0.999951861544682	0.876
18	61256068	T	A	18	63588834	y	y	splicing	SERPINB13(NM_012397:exon2:c.165+2T>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.255+2T>A;ENST00000269489:exon2:c.165+2T>A;ENST00000344731:exon2:c.165+2T>A;ENST00000438844:exon2:c.165+2T>A;ENST00000415733:exon1:c.102+2T>A)	.	.	0.999957541140616	0.872
18	61256068	T	C	18	63588834	y	y	splicing	SERPINB13(NM_012397:exon2:c.165+2T>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.255+2T>C;ENST00000269489:exon2:c.165+2T>C;ENST00000344731:exon2:c.165+2T>C;ENST00000438844:exon2:c.165+2T>C;ENST00000415733:exon1:c.102+2T>C)	.	.	0.99898487039576	0.856
18	61256068	T	G	18	63588834	y	y	splicing	SERPINB13(NM_012397:exon2:c.165+2T>G)	.	.	splicing	ENSG00000197641(ENST00000431153:exon3:c.255+2T>G;ENST00000269489:exon2:c.165+2T>G;ENST00000344731:exon2:c.165+2T>G;ENST00000438844:exon2:c.165+2T>G;ENST00000415733:exon1:c.102+2T>G)	.	.	0.999957541140616	0.86
18	61256069	T	A	18	63588835	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.88354093849178E-5	0.02
18	61256069	T	C	18	63588835	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00270622177531431	0.028
18	61256069	T	G	18	63588835	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.61599214056906E-4	0.182
18	61256070	G	A	18	63588836	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.62151613971268E-4	0.052
18	61256070	G	C	18	63588836	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.01295755729813E-4	0.19
18	61256070	G	T	18	63588836	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.01295755729813E-4	0.034
18	61256071	G	A	18	63588837	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999778671980571	0.962
18	61256071	G	C	18	63588837	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999855786240722	0.96
18	61256071	G	T	18	63588837	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999798989414918	0.968
18	61256072	G	A	18	63588838	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.18831897452859E-5	0.008
18	61256072	G	C	18	63588838	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.64616267473685E-5	0.19
18	61256072	G	T	18	63588838	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.73871048479581E-5	0.07
18	61256073	C	A	18	63588839	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.52059202711182E-6	0.008
18	61256073	C	G	18	63588839	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.52059202711182E-6	0.016
18	61256073	C	T	18	63588839	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.52059202711182E-6	0.008
18	61256074	G	A	18	63588840	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.63086161133071E-5	0.0
18	61256074	G	C	18	63588840	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.78389654127837E-5	0.016
18	61256074	G	T	18	63588840	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.78389654127837E-5	0.002
18	61256878	T	A	18	63589644	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00114223308764776	0.218
18	61256878	T	C	18	63589644	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.78559695506179E-5	0.016
18	61256878	T	G	18	63589644	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.83847800295135E-4	0.102
18	61256879	A	C	18	63589645	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.35773462715508E-5	0.084
18	61256879	A	G	18	63589645	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	7.2370045265457E-5	0.09
18	61256879	A	T	18	63589645	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.19120764951649E-5	0.088
18	61256880	T	A	18	63589646	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00100016420493014	0.214
18	61256880	T	C	18	63589646	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.79715319995074E-5	0.012
18	61256880	T	G	18	63589646	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.998978844970611	0.95
18	61256881	C	A	18	63589647	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.04863974430368E-4	0.054
18	61256881	C	G	18	63589647	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.29537166113721E-5	0.04
18	61256881	C	T	18	63589647	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.47938942045989E-5	0.028
18	61256882	T	A	18	63589648	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.13173120241493E-4	0.044
18	61256882	T	C	18	63589648	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.02478292041892E-5	0.034
18	61256882	T	G	18	63589648	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.09324033283253E-4	0.02
18	61256883	C	A	18	63589649	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.79730308874856E-5	0.02
18	61256883	C	G	18	63589649	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.79730308874856E-5	0.03
18	61256883	C	T	18	63589649	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.1162571846701E-5	0.0
18	61256884	T	A	18	63589650	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.25007122089858E-4	0.13
18	61256884	T	C	18	63589650	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.68385569079871E-5	0.004
18	61256884	T	G	18	63589650	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.06079818431312E-4	0.14
18	61256885	T	A	18	63589651	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.70678058032226E-4	0.158
18	61256885	T	C	18	63589651	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.13488681814935E-4	0.006
18	61256885	T	G	18	63589651	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.02406165212082E-4	0.186
18	61256886	C	A	18	63589652	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.06714695723075E-5	0.012
18	61256886	C	G	18	63589652	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.06714695723075E-5	0.01
18	61256886	C	T	18	63589652	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.09222598498728E-5	0.014
18	61256887	C	A	18	63589653	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.287765245330756	0.514
18	61256887	C	G	18	63589653	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.969311205782985	0.78
18	61256887	C	T	18	63589653	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.5506327596446E-4	0.01
18	61256888	A	C	18	63589654	y	y	splicing	SERPINB13(NM_012397:exon3:c.166-2A>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.256-2A>C;ENST00000269489:exon3:c.166-2A>C;ENST00000344731:exon3:c.166-2A>C;ENST00000438844:exon3:c.166-2A>C;ENST00000415733:exon2:c.103-2A>C)	.	.	0.999989378869813	0.756
18	61256888	A	G	18	63589654	y	y	splicing	SERPINB13(NM_012397:exon3:c.166-2A>G)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.256-2A>G;ENST00000269489:exon3:c.166-2A>G;ENST00000344731:exon3:c.166-2A>G;ENST00000438844:exon3:c.166-2A>G;ENST00000415733:exon2:c.103-2A>G)	.	.	0.999989378869813	0.756
18	61256888	A	T	18	63589654	y	y	splicing	SERPINB13(NM_012397:exon3:c.166-2A>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.256-2A>T;ENST00000269489:exon3:c.166-2A>T;ENST00000344731:exon3:c.166-2A>T;ENST00000438844:exon3:c.166-2A>T;ENST00000415733:exon2:c.103-2A>T)	.	.	0.999989378869813	0.758
18	61256889	G	A	18	63589655	y	y	splicing	SERPINB13(NM_012397:exon3:c.166-1G>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.256-1G>A;ENST00000269489:exon3:c.166-1G>A;ENST00000344731:exon3:c.166-1G>A;ENST00000438844:exon3:c.166-1G>A;ENST00000415733:exon2:c.103-1G>A)	.	.	0.999983516200275	0.77
18	61256889	G	C	18	63589655	y	y	splicing	SERPINB13(NM_012397:exon3:c.166-1G>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.256-1G>C;ENST00000269489:exon3:c.166-1G>C;ENST00000344731:exon3:c.166-1G>C;ENST00000438844:exon3:c.166-1G>C;ENST00000415733:exon2:c.103-1G>C)	.	.	0.999983516200275	0.752
18	61256889	G	T	18	63589655	y	y	splicing	SERPINB13(NM_012397:exon3:c.166-1G>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.256-1G>T;ENST00000269489:exon3:c.166-1G>T;ENST00000344731:exon3:c.166-1G>T;ENST00000438844:exon3:c.166-1G>T;ENST00000415733:exon2:c.103-1G>T)	.	.	0.999983516200275	0.76
18	61256890	G	A	18	63589656	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.G166A:p.V56M;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G166A:p.V56M;ENSG00000197641:ENST00000415733:exon2:c.G103A:p.V35M;ENSG00000197641:ENST00000431153:exon4:c.G256A:p.V86M;ENSG00000197641:ENST00000269489:exon3:c.G166A:p.V56M;ENSG00000197641:ENST00000438844:exon3:c.G166A:p.V56M;	8.67235993560323E-4	0.174
18	61256890	G	C	18	63589656	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.G166C:p.V56L;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G166C:p.V56L;ENSG00000197641:ENST00000415733:exon2:c.G103C:p.V35L;ENSG00000197641:ENST00000431153:exon4:c.G256C:p.V86L;ENSG00000197641:ENST00000269489:exon3:c.G166C:p.V56L;ENSG00000197641:ENST00000438844:exon3:c.G166C:p.V56L;	0.0330106120146095	0.336
18	61256890	G	T	18	63589656	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.G166T:p.V56L;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G166T:p.V56L;ENSG00000197641:ENST00000415733:exon2:c.G103T:p.V35L;ENSG00000197641:ENST00000431153:exon4:c.G256T:p.V86L;ENSG00000197641:ENST00000269489:exon3:c.G166T:p.V56L;ENSG00000197641:ENST00000438844:exon3:c.G166T:p.V56L;	0.531854048183918	0.508
18	61256891	T	A	18	63589657	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.T167A:p.V56E;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.T167A:p.V56E;ENSG00000197641:ENST00000415733:exon2:c.T104A:p.V35E;ENSG00000197641:ENST00000431153:exon4:c.T257A:p.V86E;ENSG00000197641:ENST00000269489:exon3:c.T167A:p.V56E;ENSG00000197641:ENST00000438844:exon3:c.T167A:p.V56E;	0.00439158319396373	0.106
18	61256891	T	C	18	63589657	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.T167C:p.V56A;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.T167C:p.V56A;ENSG00000197641:ENST00000415733:exon2:c.T104C:p.V35A;ENSG00000197641:ENST00000431153:exon4:c.T257C:p.V86A;ENSG00000197641:ENST00000269489:exon3:c.T167C:p.V56A;ENSG00000197641:ENST00000438844:exon3:c.T167C:p.V56A;	0.00921386295813316	0.122
18	61256891	T	G	18	63589657	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.T167G:p.V56G;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.T167G:p.V56G;ENSG00000197641:ENST00000415733:exon2:c.T104G:p.V35G;ENSG00000197641:ENST00000431153:exon4:c.T257G:p.V86G;ENSG00000197641:ENST00000269489:exon3:c.T167G:p.V56G;ENSG00000197641:ENST00000438844:exon3:c.T167G:p.V56G;	0.0059621985473858	0.126
18	61256947	G	A	18	63589713	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.G223A:p.V75M;	exonic;splicing	ENSG00000197641;ENSG00000197641(ENST00000438844:exon3:c.222+1G>A)	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G223A:p.V75M;ENSG00000197641:ENST00000415733:exon2:c.G160A:p.V54M;ENSG00000197641:ENST00000431153:exon4:c.G313A:p.V105M;ENSG00000197641:ENST00000269489:exon3:c.G223A:p.V75M;	6.32254891136252E-5	0.0
18	61256947	G	C	18	63589713	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.G223C:p.V75L;	exonic;splicing	ENSG00000197641;ENSG00000197641(ENST00000438844:exon3:c.222+1G>C)	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G223C:p.V75L;ENSG00000197641:ENST00000415733:exon2:c.G160C:p.V54L;ENSG00000197641:ENST00000431153:exon4:c.G313C:p.V105L;ENSG00000197641:ENST00000269489:exon3:c.G223C:p.V75L;	4.98220905859535E-5	0.0
18	61256947	G	T	18	63589713	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.G223T:p.V75L;	exonic;splicing	ENSG00000197641;ENSG00000197641(ENST00000438844:exon3:c.222+1G>T)	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G223T:p.V75L;ENSG00000197641:ENST00000415733:exon2:c.G160T:p.V54L;ENSG00000197641:ENST00000431153:exon4:c.G313T:p.V105L;ENSG00000197641:ENST00000269489:exon3:c.G223T:p.V75L;	8.72735888482899E-5	0.002
18	61256948	T	A	18	63589714	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.T224A:p.V75E;	exonic;splicing	ENSG00000197641;ENSG00000197641(ENST00000438844:exon3:c.222+2T>A)	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.T224A:p.V75E;ENSG00000197641:ENST00000415733:exon2:c.T161A:p.V54E;ENSG00000197641:ENST00000431153:exon4:c.T314A:p.V105E;ENSG00000197641:ENST00000269489:exon3:c.T224A:p.V75E;	0.00121031465364494	0.132
18	61256948	T	C	18	63589714	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.T224C:p.V75A;	exonic;splicing	ENSG00000197641;ENSG00000197641(ENST00000438844:exon3:c.222+2T>C)	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.T224C:p.V75A;ENSG00000197641:ENST00000415733:exon2:c.T161C:p.V54A;ENSG00000197641:ENST00000431153:exon4:c.T314C:p.V105A;ENSG00000197641:ENST00000269489:exon3:c.T224C:p.V75A;	2.16547381091161E-4	0.0
18	61256948	T	G	18	63589714	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon3:c.T224G:p.V75G;	exonic;splicing	ENSG00000197641;ENSG00000197641(ENST00000438844:exon3:c.222+2T>G)	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.T224G:p.V75G;ENSG00000197641:ENST00000415733:exon2:c.T161G:p.V54G;ENSG00000197641:ENST00000431153:exon4:c.T314G:p.V105G;ENSG00000197641:ENST00000269489:exon3:c.T224G:p.V75G;	6.31080522072668E-4	0.002
18	61256949	G	A	18	63589715	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon3:c.G225A:p.V75V;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G225A:p.V75V;ENSG00000197641:ENST00000415733:exon2:c.G162A:p.V54V;ENSG00000197641:ENST00000431153:exon4:c.G315A:p.V105V;ENSG00000197641:ENST00000269489:exon3:c.G225A:p.V75V;	0.999851010979914	0.97
18	61256949	G	C	18	63589715	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon3:c.G225C:p.V75V;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G225C:p.V75V;ENSG00000197641:ENST00000415733:exon2:c.G162C:p.V54V;ENSG00000197641:ENST00000431153:exon4:c.G315C:p.V105V;ENSG00000197641:ENST00000269489:exon3:c.G225C:p.V75V;	0.999849709148025	0.832
18	61256949	G	T	18	63589715	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon3:c.G225T:p.V75V;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon3:c.G225T:p.V75V;ENSG00000197641:ENST00000415733:exon2:c.G162T:p.V54V;ENSG00000197641:ENST00000431153:exon4:c.G315T:p.V105V;ENSG00000197641:ENST00000269489:exon3:c.G225T:p.V75V;	0.999672119469845	0.944
18	61256950	G	A	18	63589716	y	y	splicing	SERPINB13(NM_012397:exon3:c.225+1G>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.315+1G>A;ENST00000269489:exon3:c.225+1G>A;ENST00000344731:exon3:c.225+1G>A;ENST00000415733:exon2:c.162+1G>A)	.	.	0.999980535492709	0.728
18	61256950	G	C	18	63589716	y	y	splicing	SERPINB13(NM_012397:exon3:c.225+1G>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.315+1G>C;ENST00000269489:exon3:c.225+1G>C;ENST00000344731:exon3:c.225+1G>C;ENST00000415733:exon2:c.162+1G>C)	.	.	0.999980535492709	0.728
18	61256950	G	T	18	63589716	y	y	splicing	SERPINB13(NM_012397:exon3:c.225+1G>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.315+1G>T;ENST00000269489:exon3:c.225+1G>T;ENST00000344731:exon3:c.225+1G>T;ENST00000415733:exon2:c.162+1G>T)	.	.	0.999980535492709	0.728
18	61256951	T	A	18	63589717	y	y	splicing	SERPINB13(NM_012397:exon3:c.225+2T>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.315+2T>A;ENST00000269489:exon3:c.225+2T>A;ENST00000344731:exon3:c.225+2T>A;ENST00000415733:exon2:c.162+2T>A)	.	.	0.999980535492709	0.73
18	61256951	T	C	18	63589717	y	y	splicing	SERPINB13(NM_012397:exon3:c.225+2T>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.315+2T>C;ENST00000269489:exon3:c.225+2T>C;ENST00000344731:exon3:c.225+2T>C;ENST00000415733:exon2:c.162+2T>C)	.	.	0.998692210273109	0.682
18	61256951	T	G	18	63589717	y	y	splicing	SERPINB13(NM_012397:exon3:c.225+2T>G)	.	.	splicing	ENSG00000197641(ENST00000431153:exon4:c.315+2T>G;ENST00000269489:exon3:c.225+2T>G;ENST00000344731:exon3:c.225+2T>G;ENST00000415733:exon2:c.162+2T>G)	.	.	0.999980535492709	0.73
18	61256952	A	C	18	63589718	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.970752745525296	0.558
18	61256952	A	G	18	63589718	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0198676453785235	0.242
18	61256952	A	T	18	63589718	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.970873542792305	0.544
18	61256953	A	C	18	63589719	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.952850560714938	0.66
18	61256953	A	G	18	63589719	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.99337674769819	0.736
18	61256953	A	T	18	63589719	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.971873481250557	0.688
18	61256954	G	A	18	63589720	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999688511051539	0.79
18	61256954	G	C	18	63589720	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999431088145711	0.846
18	61256954	G	T	18	63589720	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999125574618287	0.766
18	61256955	A	C	18	63589721	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.91304324335896E-4	0.01
18	61256955	A	G	18	63589721	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.22164563142077E-5	0.0
18	61256955	A	T	18	63589721	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.24228211304136E-4	0.01
18	61256956	A	C	18	63589722	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.83259482890117E-4	0.0
18	61256956	A	G	18	63589722	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.33945347801203E-4	0.002
18	61256956	A	T	18	63589722	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00294452239263961	0.014
18	61256957	T	A	18	63589723	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	8.71134442205769E-5	0.0
18	61256957	T	C	18	63589723	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.89092389124759E-5	0.0
18	61256957	T	G	18	63589723	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.89092389124759E-5	0.0
18	61259570	T	A	18	63592336	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.226583625158113	0.464
18	61259570	T	C	18	63592336	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00190182147265795	0.16
18	61259570	T	G	18	63592336	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.145181637715728	0.498
18	61259571	T	A	18	63592337	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.671214704501954	0.528
18	61259571	T	C	18	63592337	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.214128762175849	0.316
18	61259571	T	G	18	63592337	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.231037477761804	0.444
18	61259572	A	C	18	63592338	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.79973310716145E-6	0.0
18	61259572	A	G	18	63592338	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.44876233256251E-5	0.0
18	61259572	A	T	18	63592338	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.67190155668058E-5	0.004
18	61259573	A	C	18	63592339	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.52192571691299E-5	0.014
18	61259573	A	G	18	63592339	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.997684201542488	0.98
18	61259573	A	T	18	63592339	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.21359852779845E-5	0.014
18	61259574	T	A	18	63592340	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00195340727064627	0.16
18	61259574	T	C	18	63592340	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	8.98300277896244E-5	0.006
18	61259574	T	G	18	63592340	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999519852764147	0.96
18	61259575	T	A	18	63592341	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0117942714548389	0.146
18	61259575	T	C	18	63592341	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.21201331565094E-4	0.01
18	61259575	T	G	18	63592341	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0103015741318754	0.148
18	61259576	T	A	18	63592342	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.980917401001378	0.642
18	61259576	T	C	18	63592342	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00766869782079191	0.276
18	61259576	T	G	18	63592342	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.957102621525889	0.642
18	61259577	T	A	18	63592343	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.9927071290828	0.616
18	61259577	T	C	18	63592343	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.10099850396866	0.368
18	61259577	T	G	18	63592343	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.972920697449091	0.604
18	61259578	C	A	18	63592344	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.47419268057699E-5	0.004
18	61259578	C	G	18	63592344	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.22278713851666E-4	0.006
18	61259578	C	T	18	63592344	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.47419268057699E-5	0.008
18	61259579	A	C	18	63592345	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.43025459941763E-4	0.17
18	61259579	A	G	18	63592345	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.101859920683809	0.286
18	61259579	A	T	18	63592345	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.77581953894508E-4	0.022
18	61259580	A	C	18	63592346	y	y	splicing	SERPINB13(NM_012397:exon4:c.226-2A>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.316-2A>C;ENST00000269489:exon4:c.226-2A>C;ENST00000344731:exon4:c.226-2A>C;ENST00000438844:exon4:c.223-2A>C)	.	.	0.99995820954749	0.864
18	61259580	A	G	18	63592346	y	y	splicing	SERPINB13(NM_012397:exon4:c.226-2A>G)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.316-2A>G;ENST00000269489:exon4:c.226-2A>G;ENST00000344731:exon4:c.226-2A>G;ENST00000438844:exon4:c.223-2A>G)	.	.	0.99995820954749	0.862
18	61259580	A	T	18	63592346	y	y	splicing	SERPINB13(NM_012397:exon4:c.226-2A>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.316-2A>T;ENST00000269489:exon4:c.226-2A>T;ENST00000344731:exon4:c.226-2A>T;ENST00000438844:exon4:c.223-2A>T)	.	.	0.999965314197099	0.872
18	61259581	G	A	18	63592347	y	y	splicing	SERPINB13(NM_012397:exon4:c.226-1G>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.316-1G>A;ENST00000269489:exon4:c.226-1G>A;ENST00000344731:exon4:c.226-1G>A;ENST00000438844:exon4:c.223-1G>A)	.	.	0.999979893289962	0.794
18	61259581	G	C	18	63592347	y	y	splicing	SERPINB13(NM_012397:exon4:c.226-1G>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.316-1G>C;ENST00000269489:exon4:c.226-1G>C;ENST00000344731:exon4:c.226-1G>C;ENST00000438844:exon4:c.223-1G>C)	.	.	0.999980961655413	0.794
18	61259581	G	T	18	63592347	y	y	splicing	SERPINB13(NM_012397:exon4:c.226-1G>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.316-1G>T;ENST00000269489:exon4:c.226-1G>T;ENST00000344731:exon4:c.226-1G>T;ENST00000438844:exon4:c.223-1G>T)	.	.	0.999980961655413	0.794
18	61259582	A	C	18	63592348	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.A226C:p.I76L;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A226C:p.I76L;ENSG00000197641:ENST00000431153:exon5:c.A316C:p.I106L;ENSG00000197641:ENST00000269489:exon4:c.A226C:p.I76L;ENSG00000197641:ENST00000438844:exon4:c.A223C:p.I75L;	0.00171348071589353	0.126
18	61259582	A	G	18	63592348	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.A226G:p.I76V;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A226G:p.I76V;ENSG00000197641:ENST00000431153:exon5:c.A316G:p.I106V;ENSG00000197641:ENST00000269489:exon4:c.A226G:p.I76V;ENSG00000197641:ENST00000438844:exon4:c.A223G:p.I75V;	4.05534552846998E-5	0.018
18	61259582	A	T	18	63592348	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.A226T:p.I76F;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A226T:p.I76F;ENSG00000197641:ENST00000431153:exon5:c.A316T:p.I106F;ENSG00000197641:ENST00000269489:exon4:c.A226T:p.I76F;ENSG00000197641:ENST00000438844:exon4:c.A223T:p.I75F;	0.0163186511946372	0.128
18	61259583	T	A	18	63592349	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.T227A:p.I76N;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.T227A:p.I76N;ENSG00000197641:ENST00000431153:exon5:c.T317A:p.I106N;ENSG00000197641:ENST00000269489:exon4:c.T227A:p.I76N;ENSG00000197641:ENST00000438844:exon4:c.T224A:p.I75N;	3.08100476328696E-4	0.182
18	61259583	T	C	18	63592349	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.T227C:p.I76T;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.T227C:p.I76T;ENSG00000197641:ENST00000431153:exon5:c.T317C:p.I106T;ENSG00000197641:ENST00000269489:exon4:c.T227C:p.I76T;ENSG00000197641:ENST00000438844:exon4:c.T224C:p.I75T;	1.85922468363617E-4	0.088
18	61259583	T	G	18	63592349	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.T227G:p.I76S;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.T227G:p.I76S;ENSG00000197641:ENST00000431153:exon5:c.T317G:p.I106S;ENSG00000197641:ENST00000269489:exon4:c.T227G:p.I76S;ENSG00000197641:ENST00000438844:exon4:c.T224G:p.I75S;	3.35848613149139E-4	0.12
18	61259708	C	A	18	63592474	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.C352A:p.Q118K;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.C352A:p.Q118K;ENSG00000197641:ENST00000431153:exon5:c.C442A:p.Q148K;ENSG00000197641:ENST00000269489:exon4:c.C352A:p.Q118K;ENSG00000197641:ENST00000438844:exon4:c.C349A:p.Q117K;	0.139020122819505	0.53
18	61259708	C	G	18	63592474	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.C352G:p.Q118E;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.C352G:p.Q118E;ENSG00000197641:ENST00000431153:exon5:c.C442G:p.Q148E;ENSG00000197641:ENST00000269489:exon4:c.C352G:p.Q118E;ENSG00000197641:ENST00000438844:exon4:c.C349G:p.Q117E;	0.0480033056265117	0.33
18	61259708	C	T	18	63592474	y	y	exonic	SERPINB13	stopgain SNV	SERPINB13:NM_012397:exon4:c.C352T:p.Q118X;	exonic	ENSG00000197641	stopgain SNV	ENSG00000197641:ENST00000344731:exon4:c.C352T:p.Q118X;ENSG00000197641:ENST00000431153:exon5:c.C442T:p.Q148X;ENSG00000197641:ENST00000269489:exon4:c.C352T:p.Q118X;ENSG00000197641:ENST00000438844:exon4:c.C349T:p.Q117X;	0.942045928105491	0.746
18	61259709	A	C	18	63592475	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.A353C:p.Q118P;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A353C:p.Q118P;ENSG00000197641:ENST00000431153:exon5:c.A443C:p.Q148P;ENSG00000197641:ENST00000269489:exon4:c.A353C:p.Q118P;ENSG00000197641:ENST00000438844:exon4:c.A350C:p.Q117P;	0.968347720491754	0.906
18	61259709	A	G	18	63592475	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.A353G:p.Q118R;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A353G:p.Q118R;ENSG00000197641:ENST00000431153:exon5:c.A443G:p.Q148R;ENSG00000197641:ENST00000269489:exon4:c.A353G:p.Q118R;ENSG00000197641:ENST00000438844:exon4:c.A350G:p.Q117R;	0.990825870919258	0.9
18	61259709	A	T	18	63592475	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.A353T:p.Q118L;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A353T:p.Q118L;ENSG00000197641:ENST00000431153:exon5:c.A443T:p.Q148L;ENSG00000197641:ENST00000269489:exon4:c.A353T:p.Q118L;ENSG00000197641:ENST00000438844:exon4:c.A350T:p.Q117L;	0.996181847932359	0.898
18	61259710	A	C	18	63592476	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.A354C:p.Q118H;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A354C:p.Q118H;ENSG00000197641:ENST00000431153:exon5:c.A444C:p.Q148H;ENSG00000197641:ENST00000269489:exon4:c.A354C:p.Q118H;ENSG00000197641:ENST00000438844:exon4:c.A351C:p.Q117H;	3.05087644818713E-5	0.078
18	61259710	A	G	18	63592476	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon4:c.A354G:p.Q118Q;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A354G:p.Q118Q;ENSG00000197641:ENST00000431153:exon5:c.A444G:p.Q148Q;ENSG00000197641:ENST00000269489:exon4:c.A354G:p.Q118Q;ENSG00000197641:ENST00000438844:exon4:c.A351G:p.Q117Q;	6.65178101157072E-5	0.056
18	61259710	A	T	18	63592476	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon4:c.A354T:p.Q118H;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon4:c.A354T:p.Q118H;ENSG00000197641:ENST00000431153:exon5:c.A444T:p.Q148H;ENSG00000197641:ENST00000269489:exon4:c.A354T:p.Q118H;ENSG00000197641:ENST00000438844:exon4:c.A351T:p.Q117H;	2.4128846741441E-4	0.152
18	61259711	G	A	18	63592477	y	y	splicing	SERPINB13(NM_012397:exon4:c.354+1G>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.444+1G>A;ENST00000269489:exon4:c.354+1G>A;ENST00000344731:exon4:c.354+1G>A;ENST00000438844:exon4:c.351+1G>A)	.	.	0.999990361384395	0.938
18	61259711	G	C	18	63592477	y	y	splicing	SERPINB13(NM_012397:exon4:c.354+1G>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.444+1G>C;ENST00000269489:exon4:c.354+1G>C;ENST00000344731:exon4:c.354+1G>C;ENST00000438844:exon4:c.351+1G>C)	.	.	0.999990361384395	0.938
18	61259711	G	T	18	63592477	y	y	splicing	SERPINB13(NM_012397:exon4:c.354+1G>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.444+1G>T;ENST00000269489:exon4:c.354+1G>T;ENST00000344731:exon4:c.354+1G>T;ENST00000438844:exon4:c.351+1G>T)	.	.	0.999990361384395	0.938
18	61259712	T	A	18	63592478	y	y	splicing	SERPINB13(NM_012397:exon4:c.354+2T>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.444+2T>A;ENST00000269489:exon4:c.354+2T>A;ENST00000344731:exon4:c.354+2T>A;ENST00000438844:exon4:c.351+2T>A)	.	.	0.999988247793601	0.93
18	61259712	T	C	18	63592478	y	y	splicing	SERPINB13(NM_012397:exon4:c.354+2T>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.444+2T>C;ENST00000269489:exon4:c.354+2T>C;ENST00000344731:exon4:c.354+2T>C;ENST00000438844:exon4:c.351+2T>C)	.	.	0.996388929962285	0.706
18	61259712	T	G	18	63592478	y	y	splicing	SERPINB13(NM_012397:exon4:c.354+2T>G)	.	.	splicing	ENSG00000197641(ENST00000431153:exon5:c.444+2T>G;ENST00000269489:exon4:c.354+2T>G;ENST00000344731:exon4:c.354+2T>G;ENST00000438844:exon4:c.351+2T>G)	.	.	0.999988247793601	0.93
18	61259713	A	C	18	63592479	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999225299644307	0.806
18	61259713	A	G	18	63592479	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00879912515235881	0.144
18	61259713	A	T	18	63592479	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.986958040248976	0.778
18	61259714	A	C	18	63592480	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.680953424791049	0.48
18	61259714	A	G	18	63592480	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.913175081191254	0.668
18	61259714	A	T	18	63592480	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.737459044509401	0.524
18	61259715	G	A	18	63592481	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.998763947184799	0.888
18	61259715	G	C	18	63592481	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999418557777666	0.91
18	61259715	G	T	18	63592481	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.998926643440717	0.848
18	61259716	T	A	18	63592482	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.149153613493701	0.36
18	61259716	T	C	18	63592482	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0667718551870528	0.434
18	61259716	T	G	18	63592482	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0203215842998775	0.342
18	61259717	T	A	18	63592483	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.5908222467397E-5	0.0
18	61259717	T	C	18	63592483	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.43949593129782E-5	0.0
18	61259717	T	G	18	63592483	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.5908222467397E-5	0.0
18	61259718	T	A	18	63592484	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.00663231447531E-4	0.004
18	61259718	T	C	18	63592484	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.83328289951026E-4	0.01
18	61259718	T	G	18	63592484	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.10579896496498E-4	0.006
18	61260076	T	A	18	63592842	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.546574627517323	0.282
18	61260076	T	C	18	63592842	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00255805182790952	0.086
18	61260076	T	G	18	63592842	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0539558618714205	0.178
18	61260077	T	A	18	63592843	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.944073875099814	0.698
18	61260077	T	C	18	63592843	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.423922646384133	0.366
18	61260077	T	G	18	63592843	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.89539694346284	0.626
18	61260078	T	A	18	63592844	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.756734167248144	0.41
18	61260078	T	C	18	63592844	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.018254794893125	0.082
18	61260078	T	G	18	63592844	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.384081797791054	0.346
18	61260079	C	A	18	63592845	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00268924488283583	0.226
18	61260079	C	G	18	63592845	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00358557469009852	0.148
18	61260079	C	T	18	63592845	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.21713246020676E-5	0.002
18	61260080	T	A	18	63592846	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0806889602962237	0.29
18	61260080	T	C	18	63592846	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00131326722306505	0.024
18	61260080	T	G	18	63592846	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0457191852919836	0.262
18	61260081	C	A	18	63592847	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.014075048985851	0.098
18	61260081	C	G	18	63592847	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0114300562404315	0.08
18	61260081	C	T	18	63592847	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.94135915135943E-4	0.012
18	61260082	C	A	18	63592848	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00836223568800945	0.276
18	61260082	C	G	18	63592848	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0320710188423075	0.306
18	61260082	C	T	18	63592848	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.1300850182219E-4	0.054
18	61260083	T	A	18	63592849	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.6626313725781	0.548
18	61260083	T	C	18	63592849	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.140129815424922	0.198
18	61260083	T	G	18	63592849	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.860732639782655	0.568
18	61260084	A	C	18	63592850	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	8.00125607733782E-4	0.074
18	61260084	A	G	18	63592850	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0010232759796963	0.096
18	61260084	A	T	18	63592850	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00202651978420721	0.014
18	61260085	A	C	18	63592851	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00105292865301527	0.084
18	61260085	A	G	18	63592851	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.892721568293358	0.478
18	61260085	A	T	18	63592851	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00101413063558089	0.038
18	61260086	A	C	18	63592852	y	y	splicing	SERPINB13(NM_012397:exon5:c.355-2A>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon6:c.445-2A>C;ENST00000269489:exon5:c.355-2A>C;ENST00000344731:exon5:c.355-2A>C;ENST00000438844:exon5:c.352-2A>C)	.	.	0.999988247793601	0.914
18	61260086	A	G	18	63592852	y	y	splicing	SERPINB13(NM_012397:exon5:c.355-2A>G)	.	.	splicing	ENSG00000197641(ENST00000431153:exon6:c.445-2A>G;ENST00000269489:exon5:c.355-2A>G;ENST00000344731:exon5:c.355-2A>G;ENST00000438844:exon5:c.352-2A>G)	.	.	0.999988247793601	0.914
18	61260086	A	T	18	63592852	y	y	splicing	SERPINB13(NM_012397:exon5:c.355-2A>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon6:c.445-2A>T;ENST00000269489:exon5:c.355-2A>T;ENST00000344731:exon5:c.355-2A>T;ENST00000438844:exon5:c.352-2A>T)	.	.	0.999988247793601	0.916
18	61260087	G	A	18	63592853	y	y	splicing	SERPINB13(NM_012397:exon5:c.355-1G>A)	.	.	splicing	ENSG00000197641(ENST00000431153:exon6:c.445-1G>A;ENST00000269489:exon5:c.355-1G>A;ENST00000344731:exon5:c.355-1G>A;ENST00000438844:exon5:c.352-1G>A)	.	.	0.999989072007339	0.914
18	61260087	G	C	18	63592853	y	y	splicing	SERPINB13(NM_012397:exon5:c.355-1G>C)	.	.	splicing	ENSG00000197641(ENST00000431153:exon6:c.445-1G>C;ENST00000269489:exon5:c.355-1G>C;ENST00000344731:exon5:c.355-1G>C;ENST00000438844:exon5:c.352-1G>C)	.	.	0.999989072007339	0.914
18	61260087	G	T	18	63592853	y	y	splicing	SERPINB13(NM_012397:exon5:c.355-1G>T)	.	.	splicing	ENSG00000197641(ENST00000431153:exon6:c.445-1G>T;ENST00000269489:exon5:c.355-1G>T;ENST00000344731:exon5:c.355-1G>T;ENST00000438844:exon5:c.352-1G>T)	.	.	0.999989072007339	0.914
18	61260088	A	C	18	63592854	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.A355C:p.K119Q;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.A355C:p.K119Q;ENSG00000197641:ENST00000431153:exon6:c.A445C:p.K149Q;ENSG00000197641:ENST00000269489:exon5:c.A355C:p.K119Q;ENSG00000197641:ENST00000438844:exon5:c.A352C:p.K118Q;	0.0444680807294525	0.186
18	61260088	A	G	18	63592854	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.A355G:p.K119E;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.A355G:p.K119E;ENSG00000197641:ENST00000431153:exon6:c.A445G:p.K149E;ENSG00000197641:ENST00000269489:exon5:c.A355G:p.K119E;ENSG00000197641:ENST00000438844:exon5:c.A352G:p.K118E;	5.94247559811297E-4	0.018
18	61260088	A	T	18	63592854	y	y	exonic	SERPINB13	stopgain SNV	SERPINB13:NM_012397:exon5:c.A355T:p.K119X;	exonic	ENSG00000197641	stopgain SNV	ENSG00000197641:ENST00000344731:exon5:c.A355T:p.K119X;ENSG00000197641:ENST00000431153:exon6:c.A445T:p.K149X;ENSG00000197641:ENST00000269489:exon5:c.A355T:p.K119X;ENSG00000197641:ENST00000438844:exon5:c.A352T:p.K118X;	0.09685205588672	0.258
18	61260089	A	C	18	63592855	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.A356C:p.K119T;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.A356C:p.K119T;ENSG00000197641:ENST00000431153:exon6:c.A446C:p.K149T;ENSG00000197641:ENST00000269489:exon5:c.A356C:p.K119T;ENSG00000197641:ENST00000438844:exon5:c.A353C:p.K118T;	0.140264126112318	0.32
18	61260089	A	G	18	63592855	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.A356G:p.K119R;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.A356G:p.K119R;ENSG00000197641:ENST00000431153:exon6:c.A446G:p.K149R;ENSG00000197641:ENST00000269489:exon5:c.A356G:p.K119R;ENSG00000197641:ENST00000438844:exon5:c.A353G:p.K118R;	0.128447928840905	0.24
18	61260089	A	T	18	63592855	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.A356T:p.K119I;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.A356T:p.K119I;ENSG00000197641:ENST00000431153:exon6:c.A446T:p.K149I;ENSG00000197641:ENST00000269489:exon5:c.A356T:p.K119I;ENSG00000197641:ENST00000438844:exon5:c.A353T:p.K118I;	0.0545180321172143	0.272
18	61260203	A	C	18	63592969	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.A470C:p.N157T;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.A470C:p.N157T;ENSG00000197641:ENST00000269489:exon5:c.A470C:p.N157T;ENSG00000197641:ENST00000438844:exon5:c.A467C:p.N156T;	0.892586757402762	0.724
18	61260203	A	G	18	63592969	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.A470G:p.N157S;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.A470G:p.N157S;ENSG00000197641:ENST00000269489:exon5:c.A470G:p.N157S;ENSG00000197641:ENST00000438844:exon5:c.A467G:p.N156S;	0.628913387778728	0.502
18	61260203	A	T	18	63592969	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.A470T:p.N157I;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.A470T:p.N157I;ENSG00000197641:ENST00000269489:exon5:c.A470T:p.N157I;ENSG00000197641:ENST00000438844:exon5:c.A467T:p.N156I;	0.991658675909375	0.78
18	61260204	T	A	18	63592970	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.T471A:p.N157K;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.T471A:p.N157K;ENSG00000197641:ENST00000269489:exon5:c.T471A:p.N157K;ENSG00000197641:ENST00000438844:exon5:c.T468A:p.N156K;	0.00548597173293239	0.432
18	61260204	T	C	18	63592970	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon5:c.T471C:p.N157N;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.T471C:p.N157N;ENSG00000197641:ENST00000269489:exon5:c.T471C:p.N157N;ENSG00000197641:ENST00000438844:exon5:c.T468C:p.N156N;	1.6346927636943E-4	0.186
18	61260204	T	G	18	63592970	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.T471G:p.N157K;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.T471G:p.N157K;ENSG00000197641:ENST00000269489:exon5:c.T471G:p.N157K;ENSG00000197641:ENST00000438844:exon5:c.T468G:p.N156K;	0.0177980486569831	0.262
18	61260205	G	A	18	63592971	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.G472A:p.E158K;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.G472A:p.E158K;ENSG00000197641:ENST00000269489:exon5:c.G472A:p.E158K;ENSG00000197641:ENST00000438844:exon5:c.G469A:p.D157N;	0.999995879451255	0.992
18	61260205	G	C	18	63592971	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon5:c.G472C:p.E158Q;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon5:c.G472C:p.E158Q;ENSG00000197641:ENST00000269489:exon5:c.G472C:p.E158Q;ENSG00000197641:ENST00000438844:exon5:c.G469C:p.D157H;	0.999990391299351	0.972
18	61260205	G	T	18	63592971	y	y	exonic	SERPINB13	stopgain SNV	SERPINB13:NM_012397:exon5:c.G472T:p.E158X;	exonic	ENSG00000197641	stopgain SNV	ENSG00000197641:ENST00000344731:exon5:c.G472T:p.E158X;ENSG00000197641:ENST00000269489:exon5:c.G472T:p.E158X;	0.999983896312971	0.986
18	61260206	G	A	18	63592972	y	y	splicing	SERPINB13(NM_012397:exon5:c.472+1G>A)	.	.	splicing	ENSG00000197641(ENST00000269489:exon5:c.472+1G>A;ENST00000344731:exon5:c.472+1G>A;ENST00000438844:exon5:c.469+1G>A)	.	.	0.999985359151731	0.9
18	61260206	G	C	18	63592972	y	y	splicing	SERPINB13(NM_012397:exon5:c.472+1G>C)	.	.	splicing	ENSG00000197641(ENST00000269489:exon5:c.472+1G>C;ENST00000344731:exon5:c.472+1G>C;ENST00000438844:exon5:c.469+1G>C)	.	.	0.999985359151731	0.9
18	61260206	G	T	18	63592972	y	y	splicing	SERPINB13(NM_012397:exon5:c.472+1G>T)	.	.	splicing	ENSG00000197641(ENST00000269489:exon5:c.472+1G>T;ENST00000344731:exon5:c.472+1G>T;ENST00000438844:exon5:c.469+1G>T)	.	.	0.999985359151731	0.9
18	61260207	T	A	18	63592973	y	y	splicing	SERPINB13(NM_012397:exon5:c.472+2T>A)	.	.	splicing	ENSG00000197641(ENST00000269489:exon5:c.472+2T>A;ENST00000344731:exon5:c.472+2T>A;ENST00000438844:exon5:c.469+2T>A)	.	.	0.999942806147512	0.904
18	61260207	T	C	18	63592973	y	y	splicing	SERPINB13(NM_012397:exon5:c.472+2T>C)	.	.	splicing	ENSG00000197641(ENST00000269489:exon5:c.472+2T>C;ENST00000344731:exon5:c.472+2T>C;ENST00000438844:exon5:c.469+2T>C)	.	.	0.999620846018603	0.81
18	61260207	T	G	18	63592973	y	y	splicing	SERPINB13(NM_012397:exon5:c.472+2T>G)	.	.	splicing	ENSG00000197641(ENST00000269489:exon5:c.472+2T>G;ENST00000344731:exon5:c.472+2T>G;ENST00000438844:exon5:c.469+2T>G)	.	.	0.999942806147512	0.904
18	61260208	A	C	18	63592974	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999957814092791	0.914
18	61260208	A	G	18	63592974	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999349149523809	0.826
18	61260208	A	T	18	63592974	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999957814092791	0.91
18	61260209	G	A	18	63592975	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.1659747072622E-4	0.1
18	61260209	G	C	18	63592975	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0218421388888681	0.332
18	61260209	G	T	18	63592975	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0184689789491633	0.192
18	61260210	A	C	18	63592976	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.25340071448156E-4	0.064
18	61260210	A	G	18	63592976	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.24065029884054E-4	0.006
18	61260210	A	T	18	63592976	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0015350324967416	0.098
18	61260211	G	A	18	63592977	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0309950906960016	0.344
18	61260211	G	C	18	63592977	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0621176873682409	0.326
18	61260211	G	T	18	63592977	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00804428527321209	0.108
18	61260212	T	A	18	63592978	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0225340980602234	0.136
18	61260212	T	C	18	63592978	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0176228174813385	0.128
18	61260212	T	G	18	63592978	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0260305724089667	0.086
18	61260213	A	C	18	63592979	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0211649919410169	0.132
18	61260213	A	G	18	63592979	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0176228174813385	0.086
18	61260213	A	T	18	63592979	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0253152146253438	0.224
18	61261248	C	A	18	63594014	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.48544556064051E-4	0.104
18	61261248	C	G	18	63594014	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.83305376283842E-4	0.118
18	61261248	C	T	18	63594014	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.78439593842235E-4	0.1
18	61261249	C	A	18	63594015	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0434475704153852	0.282
18	61261249	C	G	18	63594015	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0434475704153852	0.28
18	61261249	C	T	18	63594015	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0434475704153852	0.3
18	61261250	T	A	18	63594016	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.784522596134489	0.722
18	61261250	T	C	18	63594016	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.784522596134489	0.74
18	61261250	T	G	18	63594016	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.784522596134489	0.74
18	61261251	A	C	18	63594017	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.47503372442534E-5	0.15
18	61261251	A	G	18	63594017	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.47503372442534E-5	0.148
18	61261251	A	T	18	63594017	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.47503372442534E-5	0.14
18	61261252	T	A	18	63594018	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.80618050512278E-5	0.0
18	61261252	T	C	18	63594018	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	7.51348127203013E-5	0.0
18	61261252	T	G	18	63594018	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	7.51348127203013E-5	0.0
18	61261253	T	A	18	63594019	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0328658748173928	0.134
18	61261253	T	C	18	63594019	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0275127247699427	0.038
18	61261253	T	G	18	63594019	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0275127247699427	0.038
18	61261254	T	A	18	63594020	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0328658748173928	0.128
18	61261254	T	C	18	63594020	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0275127247699427	0.038
18	61261254	T	G	18	63594020	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0275127247699427	0.038
18	61261255	T	A	18	63594021	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.04912830756687E-4	0.01
18	61261255	T	C	18	63594021	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.8763705232534E-4	0.01
18	61261255	T	G	18	63594021	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.8763705232534E-4	0.01
18	61261256	A	C	18	63594022	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.02728736892418E-4	0.002
18	61261256	A	G	18	63594022	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.02728736892418E-4	0.0
18	61261256	A	T	18	63594022	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.38603341338827E-4	0.0
18	61261257	C	A	18	63594023	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.00961143325455E-4	0.008
18	61261257	C	G	18	63594023	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.44101454748109E-4	0.006
18	61261257	C	T	18	63594023	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.51591174045998E-4	0.01
18	61261258	A	C	18	63594024	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.470-2A>C)	.	.	4.94596726999572E-5	0.0
18	61261258	A	G	18	63594024	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.470-2A>G)	.	.	5.4518697930878E-5	0.0
18	61261258	A	T	18	63594024	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.470-2A>T)	.	.	6.61168083656048E-5	0.0
18	61261259	G	A	18	63594025	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.470-1G>A)	.	.	7.05499324916919E-5	0.0
18	61261259	G	C	18	63594025	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.470-1G>C)	.	.	7.75002676380762E-5	0.004
18	61261259	G	T	18	63594025	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.470-1G>T)	.	.	7.75002676380762E-5	0.002
18	61261260	A	C	18	63594026	n	y	intronic	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000438844:exon6:c.A470C:p.D157A;	1.55346793773738E-4	0.0
18	61261260	A	G	18	63594026	n	y	intronic	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000438844:exon6:c.A470G:p.D157G;	1.55346793773738E-4	0.0
18	61261260	A	T	18	63594026	n	y	intronic	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000438844:exon6:c.A470T:p.D157V;	1.2004927335089E-4	0.0
18	61261261	T	A	18	63594027	n	y	intronic	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000438844:exon6:c.T471A:p.D157E;	3.7519575763743E-5	0.084
18	61261261	T	C	18	63594027	n	y	intronic	SERPINB13	.	.	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000438844:exon6:c.T471C:p.D157D;	6.19764423687035E-4	0.062
18	61261261	T	G	18	63594027	n	y	intronic	SERPINB13	.	.	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000438844:exon6:c.T471G:p.D157E;	2.42901961887926E-5	0.08
18	61261470	C	A	18	63594236	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	3.10509160435428E-4	0.028
18	61261470	C	G	18	63594236	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	3.1377241730735E-4	0.016
18	61261470	C	T	18	63594236	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	3.10509160435428E-4	0.014
18	61261471	A	C	18	63594237	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	0.00133414964176908	0.0
18	61261471	A	G	18	63594237	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	0.00133414964176908	0.002
18	61261471	A	T	18	63594237	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	0.00133414964176908	0.0
18	61261472	G	A	18	63594238	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	0.00177068537553379	0.014
18	61261472	G	C	18	63594238	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	0.00172291979153482	0.014
18	61261472	G	T	18	63594238	n	y	intronic	SERPINB13	.	.	UTR3	ENSG00000197641	.	.	0.00177068537553379	0.014
18	61261473	G	A	18	63594239	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.682+1G>A)	.	.	2.85729531884366E-4	0.002
18	61261473	G	C	18	63594239	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.682+1G>C)	.	.	2.07981116501366E-4	0.002
18	61261473	G	T	18	63594239	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.682+1G>T)	.	.	2.78010604312359E-4	0.002
18	61261474	T	A	18	63594240	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.682+2T>A)	.	.	7.25990207015467E-5	0.018
18	61261474	T	C	18	63594240	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.682+2T>C)	.	.	7.25990207015467E-5	0.026
18	61261474	T	G	18	63594240	n	y	intronic	SERPINB13	.	.	splicing	ENSG00000197641(ENST00000438844:exon6:c.682+2T>G)	.	.	7.25990207015467E-5	0.016
18	61261475	G	A	18	63594241	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.91285012458584E-4	0.006
18	61261475	G	C	18	63594241	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.63915916572906E-4	0.022
18	61261475	G	T	18	63594241	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.243298286616E-4	0.006
18	61261476	C	A	18	63594242	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.13324429737708E-4	0.016
18	61261476	C	G	18	63594242	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.71088654042677E-5	0.002
18	61261476	C	T	18	63594242	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.13324429737708E-4	0.016
18	61261477	T	A	18	63594243	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.46309634441211E-4	0.008
18	61261477	T	C	18	63594243	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.61273443728377E-4	0.012
18	61261477	T	G	18	63594243	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.61273443728377E-4	0.01
18	61261478	G	A	18	63594244	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.94055286002621E-4	0.018
18	61261478	G	C	18	63594244	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.5032315332639E-4	0.018
18	61261478	G	T	18	63594244	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.94055286002621E-4	0.02
18	61261479	A	C	18	63594245	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.13563380370127E-4	0.024
18	61261479	A	G	18	63594245	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.13563380370127E-4	0.03
18	61261479	A	T	18	63594245	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.46056271527301E-4	0.018
18	61261480	C	A	18	63594246	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.98074210530117E-4	0.012
18	61261480	C	G	18	63594246	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.98074210530117E-4	0.006
18	61261480	C	T	18	63594246	n	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.35462544897784E-4	0.004
18	61261577	C	A	18	63594343	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.46054544004777E-4	0.012
18	61261577	C	G	18	63594343	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.12644911279415E-4	0.048
18	61261577	C	T	18	63594343	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.55908716824608E-5	0.002
18	61261578	T	A	18	63594344	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00712031916667321	0.158
18	61261578	T	C	18	63594344	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.97961017728576E-4	0.086
18	61261578	T	G	18	63594344	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00371487707561869	0.188
18	61261579	T	A	18	63594345	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00326348776793658	0.202
18	61261579	T	C	18	63594345	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.4032511733891E-4	0.016
18	61261579	T	G	18	63594345	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00775800899260001	0.17
18	61261580	C	A	18	63594346	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	7.56340015341033E-5	0.006
18	61261580	C	G	18	63594346	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.34871613216613E-5	0.018
18	61261580	C	T	18	63594346	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.92343199505305E-5	0.0
18	61261581	A	C	18	63594347	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.85621161828237E-5	0.008
18	61261581	A	G	18	63594347	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	8.6815803950322E-6	0.0
18	61261581	A	T	18	63594347	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.55090100199576E-5	0.0
18	61261582	T	A	18	63594348	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0076344472847621	0.152
18	61261582	T	C	18	63594348	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.36942411487266E-4	0.03
18	61261582	T	G	18	63594348	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999684416624259	0.944
18	61261583	T	A	18	63594349	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.634062673341E-4	0.09
18	61261583	T	C	18	63594349	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.76139226783218E-5	0.014
18	61261583	T	G	18	63594349	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.88942290226873E-4	0.136
18	61261584	T	A	18	63594350	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.995440873778589	0.916
18	61261584	T	C	18	63594350	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.08348228015274E-4	0.0
18	61261584	T	G	18	63594350	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00212439318833284	0.122
18	61261585	G	A	18	63594351	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.01794452297048E-5	0.0
18	61261585	G	C	18	63594351	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.42599060736929E-6	0.0
18	61261585	G	T	18	63594351	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.10140701110996E-5	0.0
18	61261586	C	A	18	63594352	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.998892556663777	0.64
18	61261586	C	G	18	63594352	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.99982997946859	0.876
18	61261586	C	T	18	63594352	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0253163087533641	0.186
18	61261587	A	C	18	63594353	y	y	splicing	SERPINB13(NM_012397:exon6:c.473-2A>C)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.473-2A>C;ENST00000344731:exon6:c.473-2A>C;ENST00000438844:exon7:c.683-2A>C)	.	.	0.999972155025474	0.85
18	61261587	A	G	18	63594353	y	y	splicing	SERPINB13(NM_012397:exon6:c.473-2A>G)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.473-2A>G;ENST00000344731:exon6:c.473-2A>G;ENST00000438844:exon7:c.683-2A>G)	.	.	0.999972155025474	0.858
18	61261587	A	T	18	63594353	y	y	splicing	SERPINB13(NM_012397:exon6:c.473-2A>T)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.473-2A>T;ENST00000344731:exon6:c.473-2A>T;ENST00000438844:exon7:c.683-2A>T)	.	.	0.999971317418422	0.896
18	61261588	G	A	18	63594354	y	y	splicing	SERPINB13(NM_012397:exon6:c.473-1G>A)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.473-1G>A;ENST00000344731:exon6:c.473-1G>A;ENST00000438844:exon7:c.683-1G>A)	.	.	0.99995299556238	0.852
18	61261588	G	C	18	63594354	y	y	splicing	SERPINB13(NM_012397:exon6:c.473-1G>C)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.473-1G>C;ENST00000344731:exon6:c.473-1G>C;ENST00000438844:exon7:c.683-1G>C)	.	.	0.999942513266374	0.81
18	61261588	G	T	18	63594354	y	y	splicing	SERPINB13(NM_012397:exon6:c.473-1G>T)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.473-1G>T;ENST00000344731:exon6:c.473-1G>T;ENST00000438844:exon7:c.683-1G>T)	.	.	0.999942513266374	0.842
18	61261589	A	C	18	63594355	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A473C:p.E158A;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A473C:p.E158A;ENSG00000197641:ENST00000269489:exon6:c.A473C:p.E158A;	0.00280234047116061	0.094
18	61261589	A	G	18	63594355	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A473G:p.E158G;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A473G:p.E158G;ENSG00000197641:ENST00000269489:exon6:c.A473G:p.E158G;	5.59494932252571E-5	0.004
18	61261589	A	T	18	63594355	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A473T:p.E158V;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A473T:p.E158V;ENSG00000197641:ENST00000269489:exon6:c.A473T:p.E158V;	0.0114592892710271	0.13
18	61261590	A	C	18	63594356	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A474C:p.E158D;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A474C:p.E158D;ENSG00000197641:ENST00000269489:exon6:c.A474C:p.E158D;	0.00217886291042978	0.036
18	61261590	A	G	18	63594356	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon6:c.A474G:p.E158E;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A474G:p.E158E;ENSG00000197641:ENST00000269489:exon6:c.A474G:p.E158E;	0.00150735738389033	0.028
18	61261590	A	T	18	63594356	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A474T:p.E158D;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A474T:p.E158D;ENSG00000197641:ENST00000269489:exon6:c.A474T:p.E158D;	0.00245634362507348	0.018
18	61261729	A	C	18	63594495	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A613C:p.K205Q;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A613C:p.K205Q;ENSG00000197641:ENST00000269489:exon6:c.A613C:p.K205Q;	0.619438854033857	0.496
18	61261729	A	G	18	63594495	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A613G:p.K205E;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A613G:p.K205E;ENSG00000197641:ENST00000269489:exon6:c.A613G:p.K205E;	0.144235167076649	0.316
18	61261729	A	T	18	63594495	y	y	exonic	SERPINB13	stopgain SNV	SERPINB13:NM_012397:exon6:c.A613T:p.K205X;	exonic	ENSG00000197641	stopgain SNV	ENSG00000197641:ENST00000344731:exon6:c.A613T:p.K205X;ENSG00000197641:ENST00000269489:exon6:c.A613T:p.K205X;	0.937562784715233	0.67
18	61261730	A	C	18	63594496	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A614C:p.K205T;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A614C:p.K205T;ENSG00000197641:ENST00000269489:exon6:c.A614C:p.K205T;	0.999215923853062	0.956
18	61261730	A	G	18	63594496	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A614G:p.K205R;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A614G:p.K205R;ENSG00000197641:ENST00000269489:exon6:c.A614G:p.K205R;	0.999489691920863	0.98
18	61261730	A	T	18	63594496	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.A614T:p.K205M;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.A614T:p.K205M;ENSG00000197641:ENST00000269489:exon6:c.A614T:p.K205M;	0.999692121839556	0.978
18	61261731	G	A	18	63594497	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon6:c.G615A:p.K205K;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.G615A:p.K205K;ENSG00000197641:ENST00000269489:exon6:c.G615A:p.K205K;	0.999857442223439	0.986
18	61261731	G	C	18	63594497	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.G615C:p.K205N;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.G615C:p.K205N;ENSG00000197641:ENST00000269489:exon6:c.G615C:p.K205N;	0.999996494771449	0.992
18	61261731	G	T	18	63594497	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon6:c.G615T:p.K205N;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon6:c.G615T:p.K205N;ENSG00000197641:ENST00000269489:exon6:c.G615T:p.K205N;	0.999976440955612	0.96
18	61261732	G	A	18	63594498	y	y	splicing	SERPINB13(NM_012397:exon6:c.615+1G>A)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.615+1G>A;ENST00000344731:exon6:c.615+1G>A;ENST00000438844:exon7:c.825+1G>A)	.	.	0.999989336352314	0.922
18	61261732	G	C	18	63594498	y	y	splicing	SERPINB13(NM_012397:exon6:c.615+1G>C)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.615+1G>C;ENST00000344731:exon6:c.615+1G>C;ENST00000438844:exon7:c.825+1G>C)	.	.	0.999972482390482	0.924
18	61261732	G	T	18	63594498	y	y	splicing	SERPINB13(NM_012397:exon6:c.615+1G>T)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.615+1G>T;ENST00000344731:exon6:c.615+1G>T;ENST00000438844:exon7:c.825+1G>T)	.	.	0.999972482390482	0.922
18	61261733	T	A	18	63594499	y	y	splicing	SERPINB13(NM_012397:exon6:c.615+2T>A)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.615+2T>A;ENST00000344731:exon6:c.615+2T>A;ENST00000438844:exon7:c.825+2T>A)	.	.	0.999986472513537	0.93
18	61261733	T	C	18	63594499	y	y	splicing	SERPINB13(NM_012397:exon6:c.615+2T>C)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.615+2T>C;ENST00000344731:exon6:c.615+2T>C;ENST00000438844:exon7:c.825+2T>C)	.	.	0.986026837404736	0.634
18	61261733	T	G	18	63594499	y	y	splicing	SERPINB13(NM_012397:exon6:c.615+2T>G)	.	.	splicing	ENSG00000197641(ENST00000269489:exon6:c.615+2T>G;ENST00000344731:exon6:c.615+2T>G;ENST00000438844:exon7:c.825+2T>G)	.	.	0.99996509239462	0.928
18	61261734	A	C	18	63594500	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999418543950652	0.878
18	61261734	A	G	18	63594500	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.993747013235166	0.706
18	61261734	A	T	18	63594500	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999478276034903	0.808
18	61261735	T	A	18	63594501	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.76628405482327E-5	0.01
18	61261735	T	C	18	63594501	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.00854065934282E-5	0.0
18	61261735	T	G	18	63594501	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.55177766517904E-5	0.01
18	61261736	G	A	18	63594502	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0876549901598401	0.43
18	61261736	G	C	18	63594502	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.463662721851164	0.514
18	61261736	G	T	18	63594502	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.20333565923251	0.436
18	61261737	G	A	18	63594503	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.94258152190708E-5	0.0
18	61261737	G	C	18	63594503	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.23011001264645E-5	0.0
18	61261737	G	T	18	63594503	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.60469022502353E-5	0.0
18	61261738	C	A	18	63594504	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.17486155721189E-5	0.0
18	61261738	C	G	18	63594504	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.50896685644909E-5	0.0
18	61261738	C	T	18	63594504	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.46272204038908E-5	0.0
18	61261739	C	A	18	63594505	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.3103840563272E-5	0.068
18	61261739	C	G	18	63594505	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.43978240284848E-5	0.002
18	61261739	C	T	18	63594505	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.03940897236228E-5	0.008
18	61262251	A	C	18	63595017	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.50366419728044E-5	0.0
18	61262251	A	G	18	63595017	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	6.00216478991892E-5	0.016
18	61262251	A	T	18	63595017	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.42040651215671E-5	0.026
18	61262252	A	C	18	63595018	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.58008188215659E-5	0.0
18	61262252	A	G	18	63595018	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.924683363065676	0.874
18	61262252	A	T	18	63595018	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.34524815369916E-5	0.058
18	61262253	T	A	18	63595019	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.336538490416576	0.566
18	61262253	T	C	18	63595019	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	7.53312114487873E-4	0.088
18	61262253	T	G	18	63595019	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999968992988547	0.946
18	61262254	T	A	18	63595020	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.070155962824602	0.546
18	61262254	T	C	18	63595020	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.41079460096173E-4	0.118
18	61262254	T	G	18	63595020	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0305649327007847	0.498
18	61262255	T	A	18	63595021	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999830528142371	0.996
18	61262255	T	C	18	63595021	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.29417652551712E-4	0.018
18	61262255	T	G	18	63595021	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0611509825799142	0.396
18	61262256	G	A	18	63595022	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.78413648196441E-4	0.03
18	61262256	G	C	18	63595022	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.37876889904412E-4	0.01
18	61262256	G	T	18	63595022	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.38707245942738E-4	0.03
18	61262257	T	A	18	63595023	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.126627586943391	0.396
18	61262257	T	C	18	63595023	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.27617381759332E-4	0.016
18	61262257	T	G	18	63595023	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0862032770192209	0.366
18	61262258	T	A	18	63595024	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999343812274994	0.938
18	61262258	T	C	18	63595024	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.133987298321282	0.196
18	61262258	T	G	18	63595024	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.874106166691752	0.592
18	61262259	G	A	18	63595025	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.87737863490542E-4	0.066
18	61262259	G	C	18	63595025	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	7.15771141738258E-4	0.01
18	61262259	G	T	18	63595025	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00110304288002096	0.03
18	61262260	C	A	18	63595026	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.989186508303494	0.774
18	61262260	C	G	18	63595026	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999818406385411	0.868
18	61262260	C	T	18	63595026	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.002331266628312	0.018
18	61262261	A	C	18	63595027	y	y	splicing	SERPINB13(NM_012397:exon7:c.616-2A>C)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.616-2A>C;ENST00000438844:exon8:c.826-2A>C;ENST00000415733:exon3:c.163-2A>C)	.	.	0.99993872479901	0.938
18	61262261	A	G	18	63595027	y	y	splicing	SERPINB13(NM_012397:exon7:c.616-2A>G)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.616-2A>G;ENST00000438844:exon8:c.826-2A>G;ENST00000415733:exon3:c.163-2A>G)	.	.	0.99993872479901	0.938
18	61262261	A	T	18	63595027	y	y	splicing	SERPINB13(NM_012397:exon7:c.616-2A>T)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.616-2A>T;ENST00000438844:exon8:c.826-2A>T;ENST00000415733:exon3:c.163-2A>T)	.	.	0.999966900483727	0.938
18	61262262	G	A	18	63595028	y	y	splicing	SERPINB13(NM_012397:exon7:c.616-1G>A)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.616-1G>A;ENST00000438844:exon8:c.826-1G>A;ENST00000415733:exon3:c.163-1G>A)	.	.	0.999949744469354	0.95
18	61262262	G	C	18	63595028	y	y	splicing	SERPINB13(NM_012397:exon7:c.616-1G>C)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.616-1G>C;ENST00000438844:exon8:c.826-1G>C;ENST00000415733:exon3:c.163-1G>C)	.	.	0.999950207824055	0.954
18	61262262	G	T	18	63595028	y	y	splicing	SERPINB13(NM_012397:exon7:c.616-1G>T)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.616-1G>T;ENST00000438844:exon8:c.826-1G>T;ENST00000415733:exon3:c.163-1G>T)	.	.	0.999950207824055	0.954
18	61262263	A	C	18	63595029	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.A616C:p.S206R;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.A616C:p.S206R;ENSG00000197641:ENST00000415733:exon3:c.A163C:p.S55R;	0.00379059320016782	0.12
18	61262263	A	G	18	63595029	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.A616G:p.S206G;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.A616G:p.S206G;ENSG00000197641:ENST00000415733:exon3:c.A163G:p.S55G;	1.35125453745057E-4	0.0
18	61262263	A	T	18	63595029	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.A616T:p.S206C;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.A616T:p.S206C;ENSG00000197641:ENST00000415733:exon3:c.A163T:p.S55C;	0.00219964532349609	0.094
18	61262264	G	A	18	63595030	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.G617A:p.S206N;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.G617A:p.S206N;ENSG00000197641:ENST00000415733:exon3:c.G164A:p.S55N;	1.01590706423173E-4	0.032
18	61262264	G	C	18	63595030	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.G617C:p.S206T;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.G617C:p.S206T;ENSG00000197641:ENST00000415733:exon3:c.G164C:p.S55T;	2.28566951139622E-5	0.026
18	61262264	G	T	18	63595030	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.G617T:p.S206I;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.G617T:p.S206I;ENSG00000197641:ENST00000415733:exon3:c.G164T:p.S55I;	7.80528775094286E-6	0.084
18	61262416	A	C	18	63595182	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.A769C:p.K257Q;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.A769C:p.K257Q;ENSG00000197641:ENST00000415733:exon3:c.A316C:p.K106Q;	2.37943339975323E-5	0.06
18	61262416	A	G	18	63595182	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.A769G:p.K257E;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.A769G:p.K257E;ENSG00000197641:ENST00000415733:exon3:c.A316G:p.K106E;	0.00172539353239479	0.142
18	61262416	A	T	18	63595182	y	y	exonic	SERPINB13	stopgain SNV	SERPINB13:NM_012397:exon7:c.A769T:p.K257X;	exonic	ENSG00000197641	stopgain SNV	ENSG00000197641:ENST00000344731:exon7:c.A769T:p.K257X;ENSG00000197641:ENST00000415733:exon3:c.A316T:p.K106X;	0.136193984679142	0.466
18	61262417	A	C	18	63595183	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.A770C:p.K257T;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.A770C:p.K257T;ENSG00000197641:ENST00000415733:exon3:c.A317C:p.K106T;	0.99866665707434	0.996
18	61262417	A	G	18	63595183	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.A770G:p.K257R;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.A770G:p.K257R;ENSG00000197641:ENST00000415733:exon3:c.A317G:p.K106R;	0.999736270941413	0.996
18	61262417	A	T	18	63595183	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.A770T:p.K257M;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.A770T:p.K257M;ENSG00000197641:ENST00000415733:exon3:c.A317T:p.K106M;	0.999420669468481	1.0
18	61262418	G	A	18	63595184	y	y	exonic	SERPINB13	synonymous SNV	SERPINB13:NM_012397:exon7:c.G771A:p.K257K;	exonic	ENSG00000197641	synonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.G771A:p.K257K;ENSG00000197641:ENST00000415733:exon3:c.G318A:p.K106K;	0.999968429420616	0.99
18	61262418	G	C	18	63595184	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.G771C:p.K257N;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.G771C:p.K257N;ENSG00000197641:ENST00000415733:exon3:c.G318C:p.K106N;	0.999997668522844	1.0
18	61262418	G	T	18	63595184	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon7:c.G771T:p.K257N;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon7:c.G771T:p.K257N;ENSG00000197641:ENST00000415733:exon3:c.G318T:p.K106N;	0.99999006121748	0.984
18	61262419	G	A	18	63595185	y	y	splicing	SERPINB13(NM_012397:exon7:c.771+1G>A)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.771+1G>A;ENST00000438844:exon8:c.981+1G>A;ENST00000415733:exon3:c.318+1G>A)	.	.	0.999933757597683	0.946
18	61262419	G	C	18	63595185	y	y	splicing	SERPINB13(NM_012397:exon7:c.771+1G>C)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.771+1G>C;ENST00000438844:exon8:c.981+1G>C;ENST00000415733:exon3:c.318+1G>C)	.	.	0.999933757597683	0.94
18	61262419	G	T	18	63595185	y	y	splicing	SERPINB13(NM_012397:exon7:c.771+1G>T)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.771+1G>T;ENST00000438844:exon8:c.981+1G>T;ENST00000415733:exon3:c.318+1G>T)	.	.	0.999933757597683	0.94
18	61262420	T	A	18	63595186	y	y	splicing	SERPINB13(NM_012397:exon7:c.771+2T>A)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.771+2T>A;ENST00000438844:exon8:c.981+2T>A;ENST00000415733:exon3:c.318+2T>A)	.	.	0.999946188727699	0.932
18	61262420	T	C	18	63595186	y	y	splicing	SERPINB13(NM_012397:exon7:c.771+2T>C)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.771+2T>C;ENST00000438844:exon8:c.981+2T>C;ENST00000415733:exon3:c.318+2T>C)	.	.	0.971898939314762	0.59
18	61262420	T	G	18	63595186	y	y	splicing	SERPINB13(NM_012397:exon7:c.771+2T>G)	.	.	splicing	ENSG00000197641(ENST00000344731:exon7:c.771+2T>G;ENST00000438844:exon8:c.981+2T>G;ENST00000415733:exon3:c.318+2T>G)	.	.	0.999964896440643	0.93
18	61262421	A	C	18	63595187	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999729264405769	0.93
18	61262421	A	G	18	63595187	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.824139125821086	0.568
18	61262421	A	T	18	63595187	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999617981719949	0.938
18	61262422	A	C	18	63595188	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.554015907114457	0.462
18	61262422	A	G	18	63595188	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.312596244832434	0.444
18	61262422	A	T	18	63595188	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.412913276565235	0.464
18	61262423	A	C	18	63595189	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	9.47416836342902E-5	0.008
18	61262423	A	G	18	63595189	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.45946964762049E-5	0.02
18	61262423	A	T	18	63595189	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.36592006379743E-4	0.006
18	61262424	C	A	18	63595190	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	7.64214230867425E-5	0.0
18	61262424	C	G	18	63595190	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	7.86191633592602E-5	0.008
18	61262424	C	T	18	63595190	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.53231255137173E-5	0.008
18	61262425	G	A	18	63595191	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.23990983271071E-5	0.0
18	61262425	G	C	18	63595191	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.75867059633341E-5	0.0
18	61262425	G	T	18	63595191	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.09470222435171E-5	0.014
18	61262426	C	A	18	63595192	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.79891738202743E-5	0.0
18	61262426	C	G	18	63595192	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.01474172207953E-5	0.0
18	61262426	C	T	18	63595192	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.27732052501732E-4	0.002
18	61264181	T	A	18	63596947	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.029921206999317	0.308
18	61264181	T	C	18	63596947	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.27087451219528E-4	0.054
18	61264181	T	G	18	63596947	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.00272730218862045	0.24
18	61264182	T	A	18	63596948	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.164605615618563	0.482
18	61264182	T	C	18	63596948	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.38374652840658E-4	0.048
18	61264182	T	G	18	63596948	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0957324903787232	0.532
18	61264183	T	A	18	63596949	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0650049317503758	0.434
18	61264183	T	C	18	63596949	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	8.72085807373297E-5	0.008
18	61264183	T	G	18	63596949	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0221824644966054	0.268
18	61264184	T	A	18	63596950	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.996247880998892	0.646
18	61264184	T	C	18	63596950	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.45804962579611E-5	0.046
18	61264184	T	G	18	63596950	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0300010673116099	0.24
18	61264185	G	A	18	63596951	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.13524518932716E-4	0.06
18	61264185	G	C	18	63596951	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.08865935893256E-5	0.0
18	61264185	G	T	18	63596951	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.08865935893256E-5	0.0
18	61264186	A	C	18	63596952	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.19653799224524E-5	0.012
18	61264186	A	G	18	63596952	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.17211098179156E-4	0.008
18	61264186	A	T	18	63596952	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.50503591192574E-5	0.02
18	61264187	A	C	18	63596953	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	3.47921847478614E-5	0.168
18	61264187	A	G	18	63596953	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.991105888127671	0.884
18	61264187	A	T	18	63596953	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	2.47095366260631E-5	0.036
18	61264188	A	C	18	63596954	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	5.80316839161634E-5	0.002
18	61264188	A	G	18	63596954	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.998055719842336	0.922
18	61264188	A	T	18	63596954	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.13125211407541E-4	0.148
18	61264189	A	C	18	63596955	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	8.70359788925933E-5	0.01
18	61264189	A	G	18	63596955	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.999554631253474	0.904
18	61264189	A	T	18	63596955	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	4.75930329091843E-5	0.002
18	61264190	T	A	18	63596956	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.0207509755889488	0.346
18	61264190	T	C	18	63596956	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	1.84430702242107E-5	0.0
18	61264190	T	G	18	63596956	y	y	intronic	SERPINB13	.	.	intronic	ENSG00000197641	.	.	0.900171199190554	0.636
18	61264191	A	C	18	63596957	y	y	splicing	SERPINB13(NM_012397:exon8:c.772-2A>C)	.	.	splicing	ENSG00000197641(ENST00000269489:exon7:c.616-2A>C;ENST00000344731:exon8:c.772-2A>C;ENST00000438844:exon9:c.982-2A>C)	.	.	0.999989917668626	0.924
18	61264191	A	G	18	63596957	y	y	splicing	SERPINB13(NM_012397:exon8:c.772-2A>G)	.	.	splicing	ENSG00000197641(ENST00000269489:exon7:c.616-2A>G;ENST00000344731:exon8:c.772-2A>G;ENST00000438844:exon9:c.982-2A>G)	.	.	0.999989917668626	0.924
18	61264191	A	T	18	63596957	y	y	splicing	SERPINB13(NM_012397:exon8:c.772-2A>T)	.	.	splicing	ENSG00000197641(ENST00000269489:exon7:c.616-2A>T;ENST00000344731:exon8:c.772-2A>T;ENST00000438844:exon9:c.982-2A>T)	.	.	0.999989917668626	0.916
18	61264192	G	A	18	63596958	y	y	splicing	SERPINB13(NM_012397:exon8:c.772-1G>A)	.	.	splicing	ENSG00000197641(ENST00000269489:exon7:c.616-1G>A;ENST00000344731:exon8:c.772-1G>A;ENST00000438844:exon9:c.982-1G>A)	.	.	0.999981760802075	0.936
18	61264192	G	C	18	63596958	y	y	splicing	SERPINB13(NM_012397:exon8:c.772-1G>C)	.	.	splicing	ENSG00000197641(ENST00000269489:exon7:c.616-1G>C;ENST00000344731:exon8:c.772-1G>C;ENST00000438844:exon9:c.982-1G>C)	.	.	0.999981760802075	0.936
18	61264192	G	T	18	63596958	y	y	splicing	SERPINB13(NM_012397:exon8:c.772-1G>T)	.	.	splicing	ENSG00000197641(ENST00000269489:exon7:c.616-1G>T;ENST00000344731:exon8:c.772-1G>T;ENST00000438844:exon9:c.982-1G>T)	.	.	0.999981760802075	0.936
18	61264193	A	C	18	63596959	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon8:c.A772C:p.I258L;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon8:c.A772C:p.I258L;ENSG00000197641:ENST00000269489:exon7:c.A616C:p.I206L;	0.0143727125189589	0.174
18	61264193	A	G	18	63596959	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon8:c.A772G:p.I258V;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon8:c.A772G:p.I258V;ENSG00000197641:ENST00000269489:exon7:c.A616G:p.I206V;	0.462464675119941	0.344
18	61264193	A	T	18	63596959	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon8:c.A772T:p.I258L;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon8:c.A772T:p.I258L;ENSG00000197641:ENST00000269489:exon7:c.A616T:p.I206L;	0.0075187742259006	0.182
18	61264194	T	A	18	63596960	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon8:c.T773A:p.I258K;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon8:c.T773A:p.I258K;ENSG00000197641:ENST00000269489:exon7:c.T617A:p.I206K;	0.444316218150645	0.45
18	61264194	T	C	18	63596960	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon8:c.T773C:p.I258T;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon8:c.T773C:p.I258T;ENSG00000197641:ENST00000269489:exon7:c.T617C:p.I206T;	0.218712216539021	0.302
18	61264194	T	G	18	63596960	y	y	exonic	SERPINB13	nonsynonymous SNV	SERPINB13:NM_012397:exon8:c.T773G:p.I258R;	exonic	ENSG00000197641	nonsynonymous SNV	ENSG00000197641:ENST00000344731:exon8:c.T773G:p.I258R;ENSG00000197641:ENST00000269489:exon7:c.T617G:p.I206R;	0.490900322262793	0.376
18	61305356	A	C	18	63638122	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon8:c.T770G:p.L257R;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon8:c.T770G:p.L257R;ENSG00000206073:ENST00000356424:exon7:c.T614G:p.L205R;	0.117271711095073	0.384
18	61305356	A	G	18	63638122	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon8:c.T770C:p.L257P;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon8:c.T770C:p.L257P;ENSG00000206073:ENST00000356424:exon7:c.T614C:p.L205P;	0.113130684889987	0.406
18	61305356	A	T	18	63638122	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon8:c.T770A:p.L257H;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon8:c.T770A:p.L257H;ENSG00000206073:ENST00000356424:exon7:c.T614A:p.L205H;	0.0778105323577666	0.372
18	61305357	G	A	18	63638123	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon8:c.C769T:p.L257F;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon8:c.C769T:p.L257F;ENSG00000206073:ENST00000356424:exon7:c.C613T:p.L205F;	0.286879394395952	0.302
18	61305357	G	C	18	63638123	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon8:c.C769G:p.L257V;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon8:c.C769G:p.L257V;ENSG00000206073:ENST00000356424:exon7:c.C613G:p.L205V;	0.00670405924070118	0.166
18	61305357	G	T	18	63638123	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon8:c.C769A:p.L257I;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon8:c.C769A:p.L257I;ENSG00000206073:ENST00000356424:exon7:c.C613A:p.L205I;	0.00145220010946753	0.1
18	61305358	C	A	18	63638124	y	y	splicing	SERPINB4(NM_002974:exon9:c.769-1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon9:c.769-1G>T;ENST00000356424:exon8:c.613-1G>T;ENST00000413673:exon8:c.711-1G>T)	.	.	0.999981760802075	0.934
18	61305358	C	G	18	63638124	y	y	splicing	SERPINB4(NM_002974:exon9:c.769-1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon9:c.769-1G>C;ENST00000356424:exon8:c.613-1G>C;ENST00000413673:exon8:c.711-1G>C)	.	.	0.999981760802075	0.924
18	61305358	C	T	18	63638124	y	y	splicing	SERPINB4(NM_002974:exon9:c.769-1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon9:c.769-1G>A;ENST00000356424:exon8:c.613-1G>A;ENST00000413673:exon8:c.711-1G>A)	.	.	0.999981760802075	0.934
18	61305359	T	A	18	63638125	y	y	splicing	SERPINB4(NM_002974:exon9:c.769-2A>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon9:c.769-2A>T;ENST00000356424:exon8:c.613-2A>T;ENST00000413673:exon8:c.711-2A>T)	.	.	0.999990155693597	0.926
18	61305359	T	C	18	63638125	y	y	splicing	SERPINB4(NM_002974:exon9:c.769-2A>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon9:c.769-2A>G;ENST00000356424:exon8:c.613-2A>G;ENST00000413673:exon8:c.711-2A>G)	.	.	0.999990155693597	0.926
18	61305359	T	G	18	63638125	y	y	splicing	SERPINB4(NM_002974:exon9:c.769-2A>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon9:c.769-2A>C;ENST00000356424:exon8:c.613-2A>C;ENST00000413673:exon8:c.711-2A>C)	.	.	0.999990155693597	0.926
18	61305360	A	C	18	63638126	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.991169936808552	0.674
18	61305360	A	G	18	63638126	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.21203355515336E-5	0.016
18	61305360	A	T	18	63638126	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00489598146573137	0.276
18	61305361	T	A	18	63638127	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.05437770770392E-5	0.018
18	61305361	T	C	18	63638127	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.37647332377685E-5	0.008
18	61305361	T	G	18	63638127	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.4849369702473E-5	0.01
18	61305362	A	C	18	63638128	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.194270927116314	0.442
18	61305362	A	G	18	63638128	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.87619544706741E-4	0.058
18	61305362	A	T	18	63638128	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.345699245732275	0.438
18	61305363	C	A	18	63638129	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.66470213356186E-5	0.004
18	61305363	C	G	18	63638129	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.27813706144782E-5	0.058
18	61305363	C	T	18	63638129	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.0202449336407E-5	0.002
18	61305364	A	C	18	63638130	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.002116118432894	0.23
18	61305364	A	G	18	63638130	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.99443478495081E-5	0.016
18	61305364	A	T	18	63638130	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.998084310590775	0.918
18	61305365	A	C	18	63638131	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00164889559792455	0.07
18	61305365	A	G	18	63638131	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.27611993845848E-6	0.0
18	61305365	A	T	18	63638131	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00209143021974099	0.05
18	61305366	A	C	18	63638132	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999226742473152	0.844
18	61305366	A	G	18	63638132	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.47374171188921E-5	0.002
18	61305366	A	T	18	63638132	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00252335065462742	0.344
18	61305367	T	A	18	63638133	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.66470213356186E-5	0.0
18	61305367	T	C	18	63638133	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.70383993541352E-5	0.0
18	61305367	T	G	18	63638133	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.01996940552471E-5	0.012
18	61305368	G	A	18	63638134	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.54410476350963E-5	0.0
18	61305368	G	C	18	63638134	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.26108716754965E-4	0.07
18	61305368	G	T	18	63638134	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.77580189214462E-4	0.014
18	61305369	G	A	18	63638135	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.92017314592258E-5	0.0
18	61305369	G	C	18	63638135	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.83732599059942E-5	0.032
18	61305369	G	T	18	63638135	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.01076138369739E-5	0.03
18	61306411	G	A	18	63639177	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.00211618265232E-5	0.0
18	61306411	G	C	18	63639177	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.01451033315269E-5	0.002
18	61306411	G	T	18	63639177	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.00211618265232E-5	0.004
18	61306412	T	A	18	63639178	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.05340558066016E-5	0.0
18	61306412	T	C	18	63639178	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.30198285153548E-5	0.006
18	61306412	T	G	18	63639178	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.30198285153548E-5	0.0
18	61306413	T	A	18	63639179	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.69418177612159E-5	0.0
18	61306413	T	C	18	63639179	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.92385581574874E-5	0.0
18	61306413	T	G	18	63639179	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.85010009029683E-5	0.008
18	61306414	C	A	18	63639180	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.310071008638281	0.346
18	61306414	C	G	18	63639180	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.293374013798161	0.382
18	61306414	C	T	18	63639180	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.354438362850301	0.376
18	61306415	T	A	18	63639181	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0566643031877004	0.412
18	61306415	T	C	18	63639181	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.268692553431445	0.456
18	61306415	T	G	18	63639181	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0745901854843154	0.368
18	61306416	T	A	18	63639182	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.951190312495624	0.6
18	61306416	T	C	18	63639182	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00426723891163196	0.148
18	61306416	T	G	18	63639182	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.951126782124494	0.66
18	61306417	A	C	18	63639183	y	y	splicing	SERPINB4(NM_002974:exon8:c.768+2T>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.768+2T>G;ENST00000413673:exon7:c.710+2T>G)	.	.	0.99925213768365	0.63
18	61306417	A	G	18	63639183	y	y	splicing	SERPINB4(NM_002974:exon8:c.768+2T>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.768+2T>C;ENST00000413673:exon7:c.710+2T>C)	.	.	0.75147654883338	0.448
18	61306417	A	T	18	63639183	y	y	splicing	SERPINB4(NM_002974:exon8:c.768+2T>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.768+2T>A;ENST00000413673:exon7:c.710+2T>A)	.	.	0.99925213768365	0.632
18	61306418	C	A	18	63639184	y	y	splicing	SERPINB4(NM_002974:exon8:c.768+1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.768+1G>T;ENST00000413673:exon7:c.710+1G>T)	.	.	0.999968430223941	0.874
18	61306418	C	G	18	63639184	y	y	splicing	SERPINB4(NM_002974:exon8:c.768+1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.768+1G>C;ENST00000413673:exon7:c.710+1G>C)	.	.	0.999965143305126	0.862
18	61306418	C	T	18	63639184	y	y	splicing	SERPINB4(NM_002974:exon8:c.768+1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.768+1G>A;ENST00000413673:exon7:c.710+1G>A)	.	.	0.999969242257053	0.878
18	61306419	C	A	18	63639185	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.G768T:p.K256N;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.G768T:p.K256N;	0.999665576512787	0.974
18	61306419	C	G	18	63639185	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.G768C:p.K256N;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.G768C:p.K256N;	0.999651695500532	0.958
18	61306419	C	T	18	63639185	y	y	exonic	SERPINB4	synonymous SNV	SERPINB4:NM_002974:exon7:c.G768A:p.K256K;	exonic	ENSG00000206073	synonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.G768A:p.K256K;	0.854420900278068	0.81
18	61306420	T	A	18	63639186	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A767T:p.K256M;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A767T:p.K256M;	0.927199391553652	0.622
18	61306420	T	C	18	63639186	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A767G:p.K256R;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A767G:p.K256R;	0.975134624246928	0.922
18	61306420	T	G	18	63639186	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A767C:p.K256T;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A767C:p.K256T;	0.955023847615512	0.884
18	61306421	T	A	18	63639187	y	y	exonic	SERPINB4	stopgain SNV	SERPINB4:NM_002974:exon7:c.A766T:p.K256X;	exonic	ENSG00000206073	stopgain SNV	ENSG00000206073:ENST00000341074:exon7:c.A766T:p.K256X;	0.00222257729366551	0.176
18	61306421	T	C	18	63639187	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A766G:p.K256E;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A766G:p.K256E;	2.04230060686846E-4	0.022
18	61306421	T	G	18	63639187	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A766C:p.K256Q;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A766C:p.K256Q;	1.29374448514943E-4	0.0
18	61306573	T	A	18	63639339	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A614T:p.N205I;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A614T:p.N205I;ENSG00000206073:ENST00000436264:exon6:c.A485T:p.N162I;	2.22694858641882E-5	0.122
18	61306573	T	C	18	63639339	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A614G:p.N205S;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A614G:p.N205S;ENSG00000206073:ENST00000436264:exon6:c.A485G:p.N162S;	5.71216053885072E-5	0.018
18	61306573	T	G	18	63639339	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A614C:p.N205T;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A614C:p.N205T;ENSG00000206073:ENST00000436264:exon6:c.A485C:p.N162T;	2.63491765334878E-4	0.074
18	61306574	T	A	18	63639340	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A613T:p.N205Y;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A613T:p.N205Y;ENSG00000206073:ENST00000436264:exon6:c.A484T:p.N162Y;	0.00193380995444847	0.166
18	61306574	T	C	18	63639340	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A613G:p.N205D;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A613G:p.N205D;ENSG00000206073:ENST00000436264:exon6:c.A484G:p.N162D;	1.23774681805705E-5	0.0
18	61306574	T	G	18	63639340	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.A613C:p.N205H;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon7:c.A613C:p.N205H;ENSG00000206073:ENST00000436264:exon6:c.A484C:p.N162H;	0.00202718386734939	0.116
18	61306575	C	A	18	63639341	y	y	splicing	SERPINB4(NM_002974:exon8:c.613-1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.613-1G>T;ENST00000436264:exon7:c.484-1G>T)	.	.	0.99994920976939	0.934
18	61306575	C	G	18	63639341	y	y	splicing	SERPINB4(NM_002974:exon8:c.613-1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.613-1G>C;ENST00000436264:exon7:c.484-1G>C)	.	.	0.99994920976939	0.932
18	61306575	C	T	18	63639341	y	y	splicing	SERPINB4(NM_002974:exon8:c.613-1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.613-1G>A;ENST00000436264:exon7:c.484-1G>A)	.	.	0.999948737127494	0.924
18	61306576	T	A	18	63639342	y	y	splicing	SERPINB4(NM_002974:exon8:c.613-2A>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.613-2A>T;ENST00000436264:exon7:c.484-2A>T)	.	.	0.999972781954908	0.93
18	61306576	T	C	18	63639342	y	y	splicing	SERPINB4(NM_002974:exon8:c.613-2A>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.613-2A>G;ENST00000436264:exon7:c.484-2A>G)	.	.	0.999972781954908	0.932
18	61306576	T	G	18	63639342	y	y	splicing	SERPINB4(NM_002974:exon8:c.613-2A>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon8:c.613-2A>C;ENST00000436264:exon7:c.484-2A>C)	.	.	0.999972781954908	0.932
18	61306577	G	A	18	63639343	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.6771291303672E-4	0.018
18	61306577	G	C	18	63639343	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.951682997166788	0.698
18	61306577	G	T	18	63639343	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.485983916325046	0.494
18	61306578	C	A	18	63639344	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.63422997259396E-4	0.052
18	61306578	C	G	18	63639344	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.02223542467034E-4	0.038
18	61306578	C	T	18	63639344	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.59675770842138E-4	0.066
18	61306579	A	C	18	63639345	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.767774239883721	0.464
18	61306579	A	G	18	63639345	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00301679770574674	0.062
18	61306579	A	T	18	63639345	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999175825154828	0.956
18	61306580	A	C	18	63639346	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999885658226997	0.982
18	61306580	A	G	18	63639346	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.16438056810608E-4	0.03
18	61306580	A	T	18	63639346	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.107671860273725	0.398
18	61306581	T	A	18	63639347	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.20175216104126E-5	0.0
18	61306581	T	C	18	63639347	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.72410482137535E-6	0.002
18	61306581	T	G	18	63639347	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.27219349862041E-5	0.0
18	61306582	A	C	18	63639348	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0265514143306408	0.448
18	61306582	A	G	18	63639348	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.69838075035473E-4	0.044
18	61306582	A	T	18	63639348	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.123936168456922	0.286
18	61306583	A	C	18	63639349	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0377473708880404	0.294
18	61306583	A	G	18	63639349	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.72641171219046E-4	0.044
18	61306583	A	T	18	63639349	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0222999717006609	0.3
18	61306584	A	C	18	63639350	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99952619804887	0.962
18	61306584	A	G	18	63639350	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.17523198557162E-4	0.01
18	61306584	A	T	18	63639350	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00837375170297895	0.184
18	61306585	T	A	18	63639351	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.20849736938399E-4	0.2
18	61306585	T	C	18	63639351	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.34576379516945E-5	0.002
18	61306585	T	G	18	63639351	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.2920284610141E-4	0.004
18	61306586	C	A	18	63639352	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.93946400510977E-6	0.004
18	61306586	C	G	18	63639352	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.0522072218591E-5	0.002
18	61306586	C	T	18	63639352	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.9116042283342E-5	0.002
18	61306860	G	A	18	63639626	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.27743000393769E-4	0.036
18	61306860	G	C	18	63639626	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.13676183109314E-4	0.038
18	61306860	G	T	18	63639626	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.19988418073995E-4	0.034
18	61306861	A	C	18	63639627	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.22660495981372E-5	0.0
18	61306861	A	G	18	63639627	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.26569577813692E-5	0.002
18	61306861	A	T	18	63639627	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.30675687931358E-5	0.0
18	61306862	C	A	18	63639628	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.48643320268234E-5	0.064
18	61306862	C	G	18	63639628	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.20195399813574E-4	0.08
18	61306862	C	T	18	63639628	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.59009469529383E-4	0.04
18	61306863	A	C	18	63639629	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.27650782959685E-4	0.058
18	61306863	A	G	18	63639629	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.40677982033161E-4	0.002
18	61306863	A	T	18	63639629	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.22402849586469E-4	0.004
18	61306864	A	C	18	63639630	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.76466878659819E-4	0.04
18	61306864	A	G	18	63639630	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.83666715333674E-4	0.028
18	61306864	A	T	18	63639630	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.06669260308972E-4	0.162
18	61306865	T	A	18	63639631	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999780508100097	0.95
18	61306865	T	C	18	63639631	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.996513254682593	0.814
18	61306865	T	G	18	63639631	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999709544283395	0.92
18	61306866	A	C	18	63639632	y	y	splicing	SERPINB4(NM_002974:exon7:c.612+2T>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.612+2T>G;ENST00000356424:exon7:c.612+2T>G;ENST00000413673:exon6:c.617+2T>G;ENST00000436264:exon6:c.483+2T>G)	.	.	0.999989917668626	0.946
18	61306866	A	G	18	63639632	y	y	splicing	SERPINB4(NM_002974:exon7:c.612+2T>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.612+2T>C;ENST00000356424:exon7:c.612+2T>C;ENST00000413673:exon6:c.617+2T>C;ENST00000436264:exon6:c.483+2T>C)	.	.	0.993792413477353	0.624
18	61306866	A	T	18	63639632	y	y	splicing	SERPINB4(NM_002974:exon7:c.612+2T>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.612+2T>A;ENST00000356424:exon7:c.612+2T>A;ENST00000413673:exon6:c.617+2T>A;ENST00000436264:exon6:c.483+2T>A)	.	.	0.999989917668626	0.946
18	61306867	C	A	18	63639633	y	y	splicing	SERPINB4(NM_002974:exon7:c.612+1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.612+1G>T;ENST00000356424:exon7:c.612+1G>T;ENST00000413673:exon6:c.617+1G>T;ENST00000436264:exon6:c.483+1G>T)	.	.	0.999986675681007	0.952
18	61306867	C	G	18	63639633	y	y	splicing	SERPINB4(NM_002974:exon7:c.612+1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.612+1G>C;ENST00000356424:exon7:c.612+1G>C;ENST00000413673:exon6:c.617+1G>C;ENST00000436264:exon6:c.483+1G>C)	.	.	0.999986675681007	0.952
18	61306867	C	T	18	63639633	y	y	splicing	SERPINB4(NM_002974:exon7:c.612+1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.612+1G>A;ENST00000356424:exon7:c.612+1G>A;ENST00000413673:exon6:c.617+1G>A;ENST00000436264:exon6:c.483+1G>A)	.	.	0.999986675681007	0.956
18	61306868	C	A	18	63639634	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.G612T:p.K204N;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.G612T:p.K204N;ENSG00000206073:ENST00000436264:exon5:c.G483T:p.K161N;ENSG00000206073:ENST00000356424:exon6:c.G612T:p.K204N;	0.999992581621154	1.0
18	61306868	C	G	18	63639634	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.G612C:p.K204N;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.G612C:p.K204N;ENSG00000206073:ENST00000436264:exon5:c.G483C:p.K161N;ENSG00000206073:ENST00000356424:exon6:c.G612C:p.K204N;	0.999997627706868	1.0
18	61306868	C	T	18	63639634	y	y	exonic	SERPINB4	synonymous SNV	SERPINB4:NM_002974:exon6:c.G612A:p.K204K;	exonic	ENSG00000206073	synonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.G612A:p.K204K;ENSG00000206073:ENST00000436264:exon5:c.G483A:p.K161K;ENSG00000206073:ENST00000356424:exon6:c.G612A:p.K204K;	0.999990925131522	1.0
18	61306869	T	A	18	63639635	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A611T:p.K204M;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A611T:p.K204M;ENSG00000206073:ENST00000436264:exon5:c.A482T:p.K161M;ENSG00000206073:ENST00000356424:exon6:c.A611T:p.K204M;	0.999976408401436	0.998
18	61306869	T	C	18	63639635	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A611G:p.K204R;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A611G:p.K204R;ENSG00000206073:ENST00000436264:exon5:c.A482G:p.K161R;ENSG00000206073:ENST00000356424:exon6:c.A611G:p.K204R;	0.999927953853831	0.998
18	61306869	T	G	18	63639635	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A611C:p.K204T;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A611C:p.K204T;ENSG00000206073:ENST00000436264:exon5:c.A482C:p.K161T;ENSG00000206073:ENST00000356424:exon6:c.A611C:p.K204T;	0.999921675380832	0.998
18	61306870	T	A	18	63639636	y	y	exonic	SERPINB4	stopgain SNV	SERPINB4:NM_002974:exon6:c.A610T:p.K204X;	exonic	ENSG00000206073	stopgain SNV	ENSG00000206073:ENST00000341074:exon6:c.A610T:p.K204X;ENSG00000206073:ENST00000436264:exon5:c.A481T:p.K161X;ENSG00000206073:ENST00000356424:exon6:c.A610T:p.K204X;	0.995119517650432	0.868
18	61306870	T	C	18	63639636	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A610G:p.K204E;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A610G:p.K204E;ENSG00000206073:ENST00000436264:exon5:c.A481G:p.K161E;ENSG00000206073:ENST00000356424:exon6:c.A610G:p.K204E;	0.0844265805907187	0.334
18	61306870	T	G	18	63639636	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A610C:p.K204Q;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A610C:p.K204Q;ENSG00000206073:ENST00000436264:exon5:c.A481C:p.K161Q;ENSG00000206073:ENST00000356424:exon6:c.A610C:p.K204Q;	0.646083953872177	0.6
18	61307009	T	A	18	63639775	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A471T:p.E157D;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A471T:p.E157D;ENSG00000206073:ENST00000436264:exon5:c.A342T:p.E114D;ENSG00000206073:ENST00000356424:exon6:c.A471T:p.E157D;	9.86687552105934E-5	0.0
18	61307009	T	C	18	63639775	y	y	exonic	SERPINB4	synonymous SNV	SERPINB4:NM_002974:exon6:c.A471G:p.E157E;	exonic	ENSG00000206073	synonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A471G:p.E157E;ENSG00000206073:ENST00000436264:exon5:c.A342G:p.E114E;ENSG00000206073:ENST00000356424:exon6:c.A471G:p.E157E;	2.75851905376914E-5	0.014
18	61307009	T	G	18	63639775	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A471C:p.E157D;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A471C:p.E157D;ENSG00000206073:ENST00000436264:exon5:c.A342C:p.E114D;ENSG00000206073:ENST00000356424:exon6:c.A471C:p.E157D;	1.37925723405722E-4	0.0
18	61307010	T	A	18	63639776	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A470T:p.E157V;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A470T:p.E157V;ENSG00000206073:ENST00000436264:exon5:c.A341T:p.E114V;ENSG00000206073:ENST00000356424:exon6:c.A470T:p.E157V;	3.78218437566101E-4	0.054
18	61307010	T	C	18	63639776	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A470G:p.E157G;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A470G:p.E157G;ENSG00000206073:ENST00000436264:exon5:c.A341G:p.E114G;ENSG00000206073:ENST00000356424:exon6:c.A470G:p.E157G;	1.96134131938084E-5	0.0
18	61307010	T	G	18	63639776	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon6:c.A470C:p.E157A;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon6:c.A470C:p.E157A;ENSG00000206073:ENST00000436264:exon5:c.A341C:p.E114A;ENSG00000206073:ENST00000356424:exon6:c.A470C:p.E157A;	4.8708159265205E-4	0.028
18	61307011	C	A	18	63639777	y	y	splicing	SERPINB4(NM_002974:exon7:c.470-1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.470-1G>T;ENST00000356424:exon7:c.470-1G>T;ENST00000413673:exon6:c.475-1G>T;ENST00000436264:exon6:c.341-1G>T)	.	.	0.999982312740861	0.762
18	61307011	C	G	18	63639777	y	y	splicing	SERPINB4(NM_002974:exon7:c.470-1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.470-1G>C;ENST00000356424:exon7:c.470-1G>C;ENST00000413673:exon6:c.475-1G>C;ENST00000436264:exon6:c.341-1G>C)	.	.	0.999987958061382	0.762
18	61307011	C	T	18	63639777	y	y	splicing	SERPINB4(NM_002974:exon7:c.470-1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.470-1G>A;ENST00000356424:exon7:c.470-1G>A;ENST00000413673:exon6:c.475-1G>A;ENST00000436264:exon6:c.341-1G>A)	.	.	0.999977614472875	0.758
18	61307012	T	A	18	63639778	y	y	splicing	SERPINB4(NM_002974:exon7:c.470-2A>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.470-2A>T;ENST00000356424:exon7:c.470-2A>T;ENST00000413673:exon6:c.475-2A>T;ENST00000436264:exon6:c.341-2A>T)	.	.	0.999962958601995	0.804
18	61307012	T	C	18	63639778	y	y	splicing	SERPINB4(NM_002974:exon7:c.470-2A>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.470-2A>G;ENST00000356424:exon7:c.470-2A>G;ENST00000413673:exon6:c.475-2A>G;ENST00000436264:exon6:c.341-2A>G)	.	.	0.999962958601995	0.794
18	61307012	T	G	18	63639778	y	y	splicing	SERPINB4(NM_002974:exon7:c.470-2A>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon7:c.470-2A>C;ENST00000356424:exon7:c.470-2A>C;ENST00000413673:exon6:c.475-2A>C;ENST00000436264:exon6:c.341-2A>C)	.	.	0.999962958601995	0.794
18	61307013	G	A	18	63639779	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.83322824643947E-4	0.01
18	61307013	G	C	18	63639779	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.998440873602173	0.94
18	61307013	G	T	18	63639779	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.729476197532432	0.592
18	61307014	C	A	18	63639780	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.97621388611178E-5	0.002
18	61307014	C	G	18	63639780	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.39161944929689E-5	0.002
18	61307014	C	T	18	63639780	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.22386136814577E-5	0.002
18	61307015	A	C	18	63639781	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00430243052019364	0.11
18	61307015	A	G	18	63639781	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.07219489761026E-5	0.0
18	61307015	A	T	18	63639781	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.982587747844001	0.854
18	61307016	A	C	18	63639782	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0136032525413687	0.134
18	61307016	A	G	18	63639782	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.05480360527831E-4	0.006
18	61307016	A	T	18	63639782	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0124133459240825	0.088
18	61307017	G	A	18	63639783	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.52414652763879E-5	0.004
18	61307017	G	C	18	63639783	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00134784871073895	0.054
18	61307017	G	T	18	63639783	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00316079215577584	0.044
18	61307018	G	A	18	63639784	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.8409305383752E-5	0.0
18	61307018	G	C	18	63639784	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.39733792910761E-5	0.006
18	61307018	G	T	18	63639784	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.82229528614276E-5	0.028
18	61307019	G	A	18	63639785	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.68807812690792E-6	0.0
18	61307019	G	C	18	63639785	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.51925351291969E-5	0.006
18	61307019	G	T	18	63639785	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.20629643515986E-5	0.004
18	61307020	A	C	18	63639786	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.77655832072428E-4	0.11
18	61307020	A	G	18	63639786	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.01646040758837E-5	0.0
18	61307020	A	T	18	63639786	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.83509232780165E-4	0.056
18	61307021	A	C	18	63639787	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00657654027899405	0.114
18	61307021	A	G	18	63639787	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.11184210186481E-4	0.032
18	61307021	A	T	18	63639787	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00176436621267323	0.078
18	61307022	A	C	18	63639788	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.98958635799892E-5	0.026
18	61307022	A	G	18	63639788	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.57796433943917E-5	0.004
18	61307022	A	T	18	63639788	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.66693693101667E-5	0.05
18	61308100	T	A	18	63640866	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.67106545568942E-5	0.0
18	61308100	T	C	18	63640866	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.658318015934E-5	0.0
18	61308100	T	G	18	63640866	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.67106545568942E-5	0.0
18	61308101	C	A	18	63640867	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.04811889901294E-4	0.036
18	61308101	C	G	18	63640867	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.39241024524663E-4	0.034
18	61308101	C	T	18	63640867	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.75640048605368E-4	0.048
18	61308102	T	A	18	63640868	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.94359320527575E-4	0.044
18	61308102	T	C	18	63640868	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.11589135906885E-4	0.02
18	61308102	T	G	18	63640868	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00126044456974599	0.064
18	61308103	C	A	18	63640869	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999728778178678	0.796
18	61308103	C	G	18	63640869	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99987398395332	0.81
18	61308103	C	T	18	63640869	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999851914314021	0.804
18	61308104	C	A	18	63640870	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.38854727612662E-5	0.006
18	61308104	C	G	18	63640870	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.38854727612662E-5	0.026
18	61308104	C	T	18	63640870	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.89901391783687E-5	0.014
18	61308105	T	A	18	63640871	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99944384532257	0.918
18	61308105	T	C	18	63640871	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.984242757014128	0.826
18	61308105	T	G	18	63640871	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999657393628484	0.912
18	61308106	A	C	18	63640872	y	y	splicing	SERPINB4(NM_002974:exon6:c.469+2T>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.469+2T>G;ENST00000356424:exon6:c.469+2T>G;ENST00000413673:exon5:c.474+2T>G;ENST00000436264:exon5:c.340+2T>G)	.	.	0.999988893522493	0.944
18	61308106	A	G	18	63640872	y	y	splicing	SERPINB4(NM_002974:exon6:c.469+2T>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.469+2T>C;ENST00000356424:exon6:c.469+2T>C;ENST00000413673:exon5:c.474+2T>C;ENST00000436264:exon5:c.340+2T>C)	.	.	0.999927222941139	0.91
18	61308106	A	T	18	63640872	y	y	splicing	SERPINB4(NM_002974:exon6:c.469+2T>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.469+2T>A;ENST00000356424:exon6:c.469+2T>A;ENST00000413673:exon5:c.474+2T>A;ENST00000436264:exon5:c.340+2T>A)	.	.	0.999988893522493	0.944
18	61308107	C	A	18	63640873	y	y	splicing	SERPINB4(NM_002974:exon6:c.469+1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.469+1G>T;ENST00000356424:exon6:c.469+1G>T;ENST00000413673:exon5:c.474+1G>T;ENST00000436264:exon5:c.340+1G>T)	.	.	0.999984967332678	0.954
18	61308107	C	G	18	63640873	y	y	splicing	SERPINB4(NM_002974:exon6:c.469+1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.469+1G>C;ENST00000356424:exon6:c.469+1G>C;ENST00000413673:exon5:c.474+1G>C;ENST00000436264:exon5:c.340+1G>C)	.	.	0.999984967332678	0.954
18	61308107	C	T	18	63640873	y	y	splicing	SERPINB4(NM_002974:exon6:c.469+1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.469+1G>A;ENST00000356424:exon6:c.469+1G>A;ENST00000413673:exon5:c.474+1G>A;ENST00000436264:exon5:c.340+1G>A)	.	.	0.999984967332678	0.954
18	61308108	C	A	18	63640874	y	y	exonic	SERPINB4	stopgain SNV	SERPINB4:NM_002974:exon5:c.G469T:p.E157X;	exonic	ENSG00000206073	stopgain SNV	ENSG00000206073:ENST00000341074:exon5:c.G469T:p.E157X;ENSG00000206073:ENST00000436264:exon4:c.G340T:p.E114X;ENSG00000206073:ENST00000356424:exon5:c.G469T:p.E157X;	0.999994201333115	0.984
18	61308108	C	G	18	63640874	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.G469C:p.E157Q;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.G469C:p.E157Q;ENSG00000206073:ENST00000436264:exon4:c.G340C:p.E114Q;ENSG00000206073:ENST00000356424:exon5:c.G469C:p.E157Q;	0.99999550408834	0.998
18	61308108	C	T	18	63640874	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.G469A:p.E157K;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.G469A:p.E157K;ENSG00000206073:ENST00000436264:exon4:c.G340A:p.E114K;ENSG00000206073:ENST00000356424:exon5:c.G469A:p.E157K;	0.999998054111237	0.992
18	61308109	A	C	18	63640875	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.T468G:p.N156K;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.T468G:p.N156K;ENSG00000206073:ENST00000436264:exon4:c.T339G:p.N113K;ENSG00000206073:ENST00000356424:exon5:c.T468G:p.N156K;	0.0024754445876864	0.244
18	61308109	A	G	18	63640875	y	y	exonic	SERPINB4	synonymous SNV	SERPINB4:NM_002974:exon5:c.T468C:p.N156N;	exonic	ENSG00000206073	synonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.T468C:p.N156N;ENSG00000206073:ENST00000436264:exon4:c.T339C:p.N113N;ENSG00000206073:ENST00000356424:exon5:c.T468C:p.N156N;	0.00140075248405494	0.084
18	61308109	A	T	18	63640875	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.T468A:p.N156K;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.T468A:p.N156K;ENSG00000206073:ENST00000436264:exon4:c.T339A:p.N113K;ENSG00000206073:ENST00000356424:exon5:c.T468A:p.N156K;	0.00153933882998873	0.444
18	61308110	T	A	18	63640876	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.A467T:p.N156I;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.A467T:p.N156I;ENSG00000206073:ENST00000436264:exon4:c.A338T:p.N113I;ENSG00000206073:ENST00000356424:exon5:c.A467T:p.N156I;	0.989149350617765	0.82
18	61308110	T	C	18	63640876	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.A467G:p.N156S;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.A467G:p.N156S;ENSG00000206073:ENST00000436264:exon4:c.A338G:p.N113S;ENSG00000206073:ENST00000356424:exon5:c.A467G:p.N156S;	0.407172198141364	0.456
18	61308110	T	G	18	63640876	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.A467C:p.N156T;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.A467C:p.N156T;ENSG00000206073:ENST00000436264:exon4:c.A338C:p.N113T;ENSG00000206073:ENST00000356424:exon5:c.A467C:p.N156T;	0.713153466910933	0.664
18	61308224	T	A	18	63640990	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.A353T:p.E118V;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.A353T:p.E118V;ENSG00000206073:ENST00000436264:exon4:c.A224T:p.E75V;ENSG00000206073:ENST00000356424:exon5:c.A353T:p.E118V;	0.00116176944826977	0.154
18	61308224	T	C	18	63640990	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.A353G:p.E118G;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.A353G:p.E118G;ENSG00000206073:ENST00000436264:exon4:c.A224G:p.E75G;ENSG00000206073:ENST00000356424:exon5:c.A353G:p.E118G;	0.0214871960210881	0.07
18	61308224	T	G	18	63640990	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.A353C:p.E118A;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.A353C:p.E118A;ENSG00000206073:ENST00000436264:exon4:c.A224C:p.E75A;ENSG00000206073:ENST00000356424:exon5:c.A353C:p.E118A;	0.0110253252530822	0.066
18	61308225	C	A	18	63640991	y	y	exonic	SERPINB4	stopgain SNV	SERPINB4:NM_002974:exon5:c.G352T:p.E118X;	exonic	ENSG00000206073	stopgain SNV	ENSG00000206073:ENST00000341074:exon5:c.G352T:p.E118X;ENSG00000206073:ENST00000436264:exon4:c.G223T:p.E75X;ENSG00000206073:ENST00000356424:exon5:c.G352T:p.E118X;	0.996949778104409	0.74
18	61308225	C	G	18	63640991	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.G352C:p.E118Q;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.G352C:p.E118Q;ENSG00000206073:ENST00000436264:exon4:c.G223C:p.E75Q;ENSG00000206073:ENST00000356424:exon5:c.G352C:p.E118Q;	0.316580830842412	0.524
18	61308225	C	T	18	63640991	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon5:c.G352A:p.E118K;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon5:c.G352A:p.E118K;ENSG00000206073:ENST00000436264:exon4:c.G223A:p.E75K;ENSG00000206073:ENST00000356424:exon5:c.G352A:p.E118K;	0.00145393780961222	0.172
18	61308226	C	A	18	63640992	y	y	splicing	SERPINB4(NM_002974:exon6:c.352-1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.352-1G>T;ENST00000356424:exon6:c.352-1G>T;ENST00000413673:exon5:c.357-1G>T;ENST00000436264:exon5:c.223-1G>T)	.	.	0.999930528371628	0.948
18	61308226	C	G	18	63640992	y	y	splicing	SERPINB4(NM_002974:exon6:c.352-1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.352-1G>C;ENST00000356424:exon6:c.352-1G>C;ENST00000413673:exon5:c.357-1G>C;ENST00000436264:exon5:c.223-1G>C)	.	.	0.999930528371628	0.96
18	61308226	C	T	18	63640992	y	y	splicing	SERPINB4(NM_002974:exon6:c.352-1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.352-1G>A;ENST00000356424:exon6:c.352-1G>A;ENST00000413673:exon5:c.357-1G>A;ENST00000436264:exon5:c.223-1G>A)	.	.	0.999930528371628	0.948
18	61308227	T	A	18	63640993	y	y	splicing	SERPINB4(NM_002974:exon6:c.352-2A>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.352-2A>T;ENST00000356424:exon6:c.352-2A>T;ENST00000413673:exon5:c.357-2A>T;ENST00000436264:exon5:c.223-2A>T)	.	.	0.999962770432696	0.952
18	61308227	T	C	18	63640993	y	y	splicing	SERPINB4(NM_002974:exon6:c.352-2A>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.352-2A>G;ENST00000356424:exon6:c.352-2A>G;ENST00000413673:exon5:c.357-2A>G;ENST00000436264:exon5:c.223-2A>G)	.	.	0.999962770432696	0.956
18	61308227	T	G	18	63640993	y	y	splicing	SERPINB4(NM_002974:exon6:c.352-2A>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon6:c.352-2A>C;ENST00000356424:exon6:c.352-2A>C;ENST00000413673:exon5:c.357-2A>C;ENST00000436264:exon5:c.223-2A>C)	.	.	0.999962770432696	0.956
18	61308228	T	A	18	63640994	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.44702018487883E-4	0.014
18	61308228	T	C	18	63640994	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.514172716514715	0.418
18	61308228	T	G	18	63640994	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.60147395352045E-4	0.122
18	61308229	T	A	18	63640995	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.14327791838133E-4	0.022
18	61308229	T	C	18	63640995	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00166592380770545	0.084
18	61308229	T	G	18	63640995	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.10786532457129E-4	0.03
18	61308230	G	A	18	63640996	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.13055622037723E-6	0.0
18	61308230	G	C	18	63640996	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00243278966225551	0.116
18	61308230	G	T	18	63640996	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.40804598204482E-4	0.052
18	61308231	A	C	18	63640997	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.681507373582438	0.56
18	61308231	A	G	18	63640997	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.85741341375658E-5	0.008
18	61308231	A	T	18	63640997	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.283693104529231	0.506
18	61308232	G	A	18	63640998	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.65851378575164E-5	0.036
18	61308232	G	C	18	63640998	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00515877332822825	0.242
18	61308232	G	T	18	63640998	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00187688084879796	0.156
18	61308233	A	C	18	63640999	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999887184325638	0.98
18	61308233	A	G	18	63640999	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.4274888582803E-4	0.026
18	61308233	A	T	18	63640999	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.10030998728356	0.438
18	61308234	T	A	18	63641000	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.77440465025933E-5	0.004
18	61308234	T	C	18	63641000	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.60250842926701E-5	0.01
18	61308234	T	G	18	63641000	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.62653614690805E-6	0.0
18	61308235	A	C	18	63641001	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99963500052035	0.962
18	61308235	A	G	18	63641001	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.35800332312492E-4	0.086
18	61308235	A	T	18	63641001	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0547046998246347	0.416
18	61308236	T	A	18	63641002	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.40778869497368E-5	0.146
18	61308236	T	C	18	63641002	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.77052994175266E-5	0.0
18	61308236	T	G	18	63641002	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.01084271476234E-5	0.02
18	61308237	G	A	18	63641003	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.20744275367922E-5	0.002
18	61308237	G	C	18	63641003	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.32327368075972E-4	0.11
18	61308237	G	T	18	63641003	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.38758122569402E-4	0.076
18	61308986	G	A	18	63641752	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.61447691271874E-5	0.0
18	61308986	G	C	18	63641752	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.13505322126213E-5	0.0
18	61308986	G	T	18	63641752	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.93631775611443E-5	0.0
18	61308987	A	C	18	63641753	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.76782013827619E-4	0.0
18	61308987	A	G	18	63641753	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.09881495636289E-4	0.0
18	61308987	A	T	18	63641753	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.09881495636289E-4	0.0
18	61308988	A	C	18	63641754	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00199069878793155	0.108
18	61308988	A	G	18	63641754	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0311557006719216	0.168
18	61308988	A	T	18	63641754	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00439510099122614	0.06
18	61308989	A	C	18	63641755	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00113320038562462	0.036
18	61308989	A	G	18	63641755	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00774290298558235	0.074
18	61308989	A	T	18	63641755	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0119430109309704	0.038
18	61308990	T	A	18	63641756	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.845702434521421	0.588
18	61308990	T	C	18	63641756	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.889528431741633	0.722
18	61308990	T	G	18	63641756	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.368279218179661	0.424
18	61308991	T	A	18	63641757	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99759391354856	0.892
18	61308991	T	C	18	63641757	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.181832817373356	0.66
18	61308991	T	G	18	63641757	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99517594193738	0.872
18	61308992	A	C	18	63641758	y	y	splicing	SERPINB4(NM_002974:exon5:c.351+2T>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.351+2T>G;ENST00000356424:exon5:c.351+2T>G;ENST00000413673:exon4:c.356+2T>G)	.	.	0.999967001206676	0.95
18	61308992	A	G	18	63641758	y	y	splicing	SERPINB4(NM_002974:exon5:c.351+2T>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.351+2T>C;ENST00000356424:exon5:c.351+2T>C;ENST00000413673:exon4:c.356+2T>C)	.	.	0.985488923027239	0.642
18	61308992	A	T	18	63641758	y	y	splicing	SERPINB4(NM_002974:exon5:c.351+2T>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.351+2T>A;ENST00000356424:exon5:c.351+2T>A;ENST00000413673:exon4:c.356+2T>A)	.	.	0.999967001206676	0.948
18	61308993	C	A	18	63641759	y	y	splicing	SERPINB4(NM_002974:exon5:c.351+1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.351+1G>T;ENST00000356424:exon5:c.351+1G>T;ENST00000413673:exon4:c.356+1G>T)	.	.	0.999961682427198	0.954
18	61308993	C	G	18	63641759	y	y	splicing	SERPINB4(NM_002974:exon5:c.351+1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.351+1G>C;ENST00000356424:exon5:c.351+1G>C;ENST00000413673:exon4:c.356+1G>C)	.	.	0.999961682427198	0.956
18	61308993	C	T	18	63641759	y	y	splicing	SERPINB4(NM_002974:exon5:c.351+1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.351+1G>A;ENST00000356424:exon5:c.351+1G>A;ENST00000413673:exon4:c.356+1G>A)	.	.	0.999961682427198	0.954
18	61308994	C	A	18	63641760	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.G351T:p.Q117H;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.G351T:p.Q117H;ENSG00000206073:ENST00000356424:exon4:c.G351T:p.Q117H;	0.999939035496386	0.982
18	61308994	C	G	18	63641760	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.G351C:p.Q117H;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.G351C:p.Q117H;ENSG00000206073:ENST00000356424:exon4:c.G351C:p.Q117H;	0.999967495017438	0.99
18	61308994	C	T	18	63641760	y	y	exonic	SERPINB4	synonymous SNV	SERPINB4:NM_002974:exon4:c.G351A:p.Q117Q;	exonic	ENSG00000206073	synonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.G351A:p.Q117Q;ENSG00000206073:ENST00000356424:exon4:c.G351A:p.Q117Q;	0.99607829174784	0.934
18	61308995	T	A	18	63641761	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.A350T:p.Q117L;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.A350T:p.Q117L;ENSG00000206073:ENST00000356424:exon4:c.A350T:p.Q117L;	0.997413618416286	0.888
18	61308995	T	C	18	63641761	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.A350G:p.Q117R;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.A350G:p.Q117R;ENSG00000206073:ENST00000356424:exon4:c.A350G:p.Q117R;	0.983426137307513	0.658
18	61308995	T	G	18	63641761	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.A350C:p.Q117P;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.A350C:p.Q117P;ENSG00000206073:ENST00000356424:exon4:c.A350C:p.Q117P;	0.550957946853535	0.554
18	61308996	G	A	18	63641762	y	y	exonic	SERPINB4	stopgain SNV	SERPINB4:NM_002974:exon4:c.C349T:p.Q117X;	exonic	ENSG00000206073	stopgain SNV	ENSG00000206073:ENST00000341074:exon4:c.C349T:p.Q117X;ENSG00000206073:ENST00000356424:exon4:c.C349T:p.Q117X;	0.338579580775536	0.444
18	61308996	G	C	18	63641762	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.C349G:p.Q117E;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.C349G:p.Q117E;ENSG00000206073:ENST00000356424:exon4:c.C349G:p.Q117E;	1.19018636584803E-4	0.014
18	61308996	G	T	18	63641762	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.C349A:p.Q117K;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.C349A:p.Q117K;ENSG00000206073:ENST00000356424:exon4:c.C349A:p.Q117K;	3.05400227779702E-4	0.072
18	61309121	A	C	18	63641887	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.T224G:p.V75G;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.T224G:p.V75G;ENSG00000206073:ENST00000356424:exon4:c.T224G:p.V75G;	2.74288508897366E-4	0.014
18	61309121	A	G	18	63641887	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.T224C:p.V75A;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.T224C:p.V75A;ENSG00000206073:ENST00000356424:exon4:c.T224C:p.V75A;	9.552468868197E-4	0.052
18	61309121	A	T	18	63641887	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.T224A:p.V75D;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.T224A:p.V75D;ENSG00000206073:ENST00000356424:exon4:c.T224A:p.V75D;	4.3342020740442E-4	0.048
18	61309122	C	A	18	63641888	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.G223T:p.V75F;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.G223T:p.V75F;ENSG00000206073:ENST00000356424:exon4:c.G223T:p.V75F;	0.911663802261148	0.762
18	61309122	C	G	18	63641888	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.G223C:p.V75L;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.G223C:p.V75L;ENSG00000206073:ENST00000356424:exon4:c.G223C:p.V75L;	0.0648579004743411	0.45
18	61309122	C	T	18	63641888	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon4:c.G223A:p.V75I;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon4:c.G223A:p.V75I;ENSG00000206073:ENST00000356424:exon4:c.G223A:p.V75I;	0.035265282301159	0.292
18	61309123	C	A	18	63641889	y	y	splicing	SERPINB4(NM_002974:exon5:c.223-1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.223-1G>T;ENST00000356424:exon5:c.223-1G>T;ENST00000413673:exon4:c.228-1G>T)	.	.	0.99996748057446	0.896
18	61309123	C	G	18	63641889	y	y	splicing	SERPINB4(NM_002974:exon5:c.223-1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.223-1G>C;ENST00000356424:exon5:c.223-1G>C;ENST00000413673:exon4:c.228-1G>C)	.	.	0.99996748057446	0.892
18	61309123	C	T	18	63641889	y	y	splicing	SERPINB4(NM_002974:exon5:c.223-1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.223-1G>A;ENST00000356424:exon5:c.223-1G>A;ENST00000413673:exon4:c.228-1G>A)	.	.	0.999945530492988	0.886
18	61309124	T	A	18	63641890	y	y	splicing	SERPINB4(NM_002974:exon5:c.223-2A>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.223-2A>T;ENST00000356424:exon5:c.223-2A>T;ENST00000413673:exon4:c.228-2A>T)	.	.	0.999967001206676	0.944
18	61309124	T	C	18	63641890	y	y	splicing	SERPINB4(NM_002974:exon5:c.223-2A>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.223-2A>G;ENST00000356424:exon5:c.223-2A>G;ENST00000413673:exon4:c.228-2A>G)	.	.	0.999967305459904	0.944
18	61309124	T	G	18	63641890	y	y	splicing	SERPINB4(NM_002974:exon5:c.223-2A>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon5:c.223-2A>C;ENST00000356424:exon5:c.223-2A>C;ENST00000413673:exon4:c.228-2A>C)	.	.	0.999967305459904	0.944
18	61309125	T	A	18	63641891	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.59077917104708E-4	0.008
18	61309125	T	C	18	63641891	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.71228146775887	0.54
18	61309125	T	G	18	63641891	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.28541776514657E-4	0.05
18	61309126	C	A	18	63641892	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0017945890439935	0.064
18	61309126	C	G	18	63641892	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00113721380520543	0.032
18	61309126	C	T	18	63641892	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00364040158799235	0.058
18	61309127	A	C	18	63641893	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.880391876483879	0.552
18	61309127	A	G	18	63641893	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00383909742251449	0.156
18	61309127	A	T	18	63641893	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99924415558644	0.936
18	61309128	A	C	18	63641894	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.401186381545372	0.438
18	61309128	A	G	18	63641894	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.1454857833406E-4	0.04
18	61309128	A	T	18	63641894	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.720249627508998	0.512
18	61309129	A	C	18	63641895	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0686466164424512	0.282
18	61309129	A	G	18	63641895	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.30294417877523E-4	0.054
18	61309129	A	T	18	63641895	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0691960861676496	0.272
18	61309130	C	A	18	63641896	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.31378247454735E-5	0.0
18	61309130	C	G	18	63641896	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.31378247454735E-5	0.0
18	61309130	C	T	18	63641896	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.12806248482829E-4	0.03
18	61309131	A	C	18	63641897	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.984552268661863	0.752
18	61309131	A	G	18	63641897	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.64496417247354E-5	0.01
18	61309131	A	T	18	63641897	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.989410667962425	0.792
18	61309132	T	A	18	63641898	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.8366498270406E-5	0.018
18	61309132	T	C	18	63641898	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.87937566149215E-5	0.0
18	61309132	T	G	18	63641898	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.54562430263536E-5	0.0
18	61309133	C	A	18	63641899	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.9768701254641E-5	0.05
18	61309133	C	G	18	63641899	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.62600454544293E-5	0.0
18	61309133	C	T	18	63641899	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.99031137188191E-4	0.004
18	61309134	A	C	18	63641900	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.281241481052544	0.504
18	61309134	A	G	18	63641900	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00162773003392679	0.054
18	61309134	A	T	18	63641900	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999959763471095	0.964
18	61310387	T	A	18	63643153	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.69305054781059E-5	0.004
18	61310387	T	C	18	63643153	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.22742148595564E-5	0.0
18	61310387	T	G	18	63643153	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.22742148595564E-5	0.0
18	61310388	G	A	18	63643154	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.33735821590057E-4	0.0
18	61310388	G	C	18	63643154	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.75178917897608E-5	0.0
18	61310388	G	T	18	63643154	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.06350999159987E-4	0.0
18	61310389	A	C	18	63643155	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0769520610349617	0.262
18	61310389	A	G	18	63643155	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.633069097278403	0.454
18	61310389	A	T	18	63643155	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.775517009015108	0.548
18	61310390	C	A	18	63643156	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99997608969669	0.98
18	61310390	C	G	18	63643156	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999654160484857	0.844
18	61310390	C	T	18	63643156	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999948804103586	0.982
18	61310391	T	A	18	63643157	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.998590437236696	0.864
18	61310391	T	C	18	63643157	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.981852607807606	0.866
18	61310391	T	G	18	63643157	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.960442946859693	0.76
18	61310392	C	A	18	63643158	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.99338171561063	0.522
18	61310392	C	G	18	63643158	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.979997607779537	0.602
18	61310392	C	T	18	63643158	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.0807392338181E-5	0.0
18	61310393	A	C	18	63643159	y	y	splicing	SERPINB4(NM_002974:exon4:c.222+2T>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.222+2T>G;ENST00000356424:exon4:c.222+2T>G;ENST00000413673:exon3:c.227+2T>G;ENST00000436264:exon4:c.222+2T>G)	.	.	0.99998382861657	0.854
18	61310393	A	G	18	63643159	y	y	splicing	SERPINB4(NM_002974:exon4:c.222+2T>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.222+2T>C;ENST00000356424:exon4:c.222+2T>C;ENST00000413673:exon3:c.227+2T>C;ENST00000436264:exon4:c.222+2T>C)	.	.	0.999849997063975	0.8
18	61310393	A	T	18	63643159	y	y	splicing	SERPINB4(NM_002974:exon4:c.222+2T>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.222+2T>A;ENST00000356424:exon4:c.222+2T>A;ENST00000413673:exon3:c.227+2T>A;ENST00000436264:exon4:c.222+2T>A)	.	.	0.999985353572514	0.87
18	61310394	C	A	18	63643160	y	y	splicing	SERPINB4(NM_002974:exon4:c.222+1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.222+1G>T;ENST00000356424:exon4:c.222+1G>T;ENST00000413673:exon3:c.227+1G>T;ENST00000436264:exon4:c.222+1G>T)	.	.	0.999962958601995	0.84
18	61310394	C	G	18	63643160	y	y	splicing	SERPINB4(NM_002974:exon4:c.222+1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.222+1G>C;ENST00000356424:exon4:c.222+1G>C;ENST00000413673:exon3:c.227+1G>C;ENST00000436264:exon4:c.222+1G>C)	.	.	0.999962958601995	0.824
18	61310394	C	T	18	63643160	y	y	splicing	SERPINB4(NM_002974:exon4:c.222+1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.222+1G>A;ENST00000356424:exon4:c.222+1G>A;ENST00000413673:exon3:c.227+1G>A;ENST00000436264:exon4:c.222+1G>A)	.	.	0.999969255906173	0.846
18	61310395	A	C	18	63643161	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.T222G:p.H74Q;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.T222G:p.H74Q;ENSG00000206073:ENST00000436264:exon3:c.T222G:p.H74Q;ENSG00000206073:ENST00000356424:exon3:c.T222G:p.H74Q;	2.72093525704303E-5	0.058
18	61310395	A	G	18	63643161	y	y	exonic	SERPINB4	synonymous SNV	SERPINB4:NM_002974:exon3:c.T222C:p.H74H;	exonic	ENSG00000206073	synonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.T222C:p.H74H;ENSG00000206073:ENST00000436264:exon3:c.T222C:p.H74H;ENSG00000206073:ENST00000356424:exon3:c.T222C:p.H74H;	1.47147931056739E-5	0.0
18	61310395	A	T	18	63643161	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.T222A:p.H74Q;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.T222A:p.H74Q;ENSG00000206073:ENST00000436264:exon3:c.T222A:p.H74Q;ENSG00000206073:ENST00000356424:exon3:c.T222A:p.H74Q;	1.35428088211873E-5	0.008
18	61310396	T	A	18	63643162	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.A221T:p.H74L;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.A221T:p.H74L;ENSG00000206073:ENST00000436264:exon3:c.A221T:p.H74L;ENSG00000206073:ENST00000356424:exon3:c.A221T:p.H74L;	0.758291281717934	0.678
18	61310396	T	C	18	63643162	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.A221G:p.H74R;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.A221G:p.H74R;ENSG00000206073:ENST00000436264:exon3:c.A221G:p.H74R;ENSG00000206073:ENST00000356424:exon3:c.A221G:p.H74R;	0.336801484903118	0.468
18	61310396	T	G	18	63643162	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.A221C:p.H74P;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.A221C:p.H74P;ENSG00000206073:ENST00000436264:exon3:c.A221C:p.H74P;ENSG00000206073:ENST00000356424:exon3:c.A221C:p.H74P;	0.478773952357889	0.62
18	61310397	G	A	18	63643163	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.C220T:p.H74Y;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.C220T:p.H74Y;ENSG00000206073:ENST00000436264:exon3:c.C220T:p.H74Y;ENSG00000206073:ENST00000356424:exon3:c.C220T:p.H74Y;	0.295966414234349	0.58
18	61310397	G	C	18	63643163	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.C220G:p.H74D;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.C220G:p.H74D;ENSG00000206073:ENST00000436264:exon3:c.C220G:p.H74D;ENSG00000206073:ENST00000356424:exon3:c.C220G:p.H74D;	1.15934737135494E-4	0.014
18	61310397	G	T	18	63643163	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.C220A:p.H74N;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.C220A:p.H74N;ENSG00000206073:ENST00000436264:exon3:c.C220A:p.H74N;ENSG00000206073:ENST00000356424:exon3:c.C220A:p.H74N;	9.14590014389865E-5	0.01
18	61310450	A	C	18	63643216	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.T167G:p.V56G;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.T167G:p.V56G;ENSG00000206073:ENST00000436264:exon3:c.T167G:p.V56G;ENSG00000206073:ENST00000356424:exon3:c.T167G:p.V56G;	0.0203074685895988	0.094
18	61310450	A	G	18	63643216	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.T167C:p.V56A;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.T167C:p.V56A;ENSG00000206073:ENST00000436264:exon3:c.T167C:p.V56A;ENSG00000206073:ENST00000356424:exon3:c.T167C:p.V56A;	0.0597996179509533	0.09
18	61310450	A	T	18	63643216	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.T167A:p.V56D;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.T167A:p.V56D;ENSG00000206073:ENST00000436264:exon3:c.T167A:p.V56D;ENSG00000206073:ENST00000356424:exon3:c.T167A:p.V56D;	0.0453502497223748	0.14
18	61310451	C	A	18	63643217	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.G166T:p.V56F;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.G166T:p.V56F;ENSG00000206073:ENST00000436264:exon3:c.G166T:p.V56F;ENSG00000206073:ENST00000356424:exon3:c.G166T:p.V56F;	0.991065904656987	0.798
18	61310451	C	G	18	63643217	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.G166C:p.V56L;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.G166C:p.V56L;ENSG00000206073:ENST00000436264:exon3:c.G166C:p.V56L;ENSG00000206073:ENST00000356424:exon3:c.G166C:p.V56L;	0.970034351019496	0.778
18	61310451	C	T	18	63643217	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon3:c.G166A:p.V56I;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon3:c.G166A:p.V56I;ENSG00000206073:ENST00000436264:exon3:c.G166A:p.V56I;ENSG00000206073:ENST00000356424:exon3:c.G166A:p.V56I;	0.159280357850929	0.246
18	61310452	C	A	18	63643218	y	y	splicing	SERPINB4(NM_002974:exon4:c.166-1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.166-1G>T;ENST00000356424:exon4:c.166-1G>T;ENST00000413673:exon3:c.171-1G>T;ENST00000436264:exon4:c.166-1G>T)	.	.	0.999962958601995	0.8
18	61310452	C	G	18	63643218	y	y	splicing	SERPINB4(NM_002974:exon4:c.166-1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.166-1G>C;ENST00000356424:exon4:c.166-1G>C;ENST00000413673:exon3:c.171-1G>C;ENST00000436264:exon4:c.166-1G>C)	.	.	0.999962958601995	0.792
18	61310452	C	T	18	63643218	y	y	splicing	SERPINB4(NM_002974:exon4:c.166-1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.166-1G>A;ENST00000356424:exon4:c.166-1G>A;ENST00000413673:exon3:c.171-1G>A;ENST00000436264:exon4:c.166-1G>A)	.	.	0.999962958601995	0.802
18	61310453	T	A	18	63643219	y	y	splicing	SERPINB4(NM_002974:exon4:c.166-2A>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.166-2A>T;ENST00000356424:exon4:c.166-2A>T;ENST00000413673:exon3:c.171-2A>T;ENST00000436264:exon4:c.166-2A>T)	.	.	0.999980516178445	0.836
18	61310453	T	C	18	63643219	y	y	splicing	SERPINB4(NM_002974:exon4:c.166-2A>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.166-2A>G;ENST00000356424:exon4:c.166-2A>G;ENST00000413673:exon3:c.171-2A>G;ENST00000436264:exon4:c.166-2A>G)	.	.	0.999980516178445	0.802
18	61310453	T	G	18	63643219	y	y	splicing	SERPINB4(NM_002974:exon4:c.166-2A>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon4:c.166-2A>C;ENST00000356424:exon4:c.166-2A>C;ENST00000413673:exon3:c.171-2A>C;ENST00000436264:exon4:c.166-2A>C)	.	.	0.999980516178445	0.802
18	61310454	G	A	18	63643220	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.25185423975229E-4	0.022
18	61310454	G	C	18	63643220	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.958797477199484	0.854
18	61310454	G	T	18	63643220	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.181591086747584	0.362
18	61310455	G	A	18	63643221	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.75080458834876E-5	0.0
18	61310455	G	C	18	63643221	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.61383213247082E-5	0.0
18	61310455	G	T	18	63643221	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.61383213247082E-5	0.0
18	61310456	A	C	18	63643222	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.600751645721206	0.398
18	61310456	A	G	18	63643222	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.001183068502515	0.018
18	61310456	A	T	18	63643222	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.562792904118258	0.37
18	61310457	A	C	18	63643223	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.328174177677809	0.336
18	61310457	A	G	18	63643223	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.19681784467365E-5	0.002
18	61310457	A	T	18	63643223	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.105364913282974	0.232
18	61310458	G	A	18	63643224	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.63446924344551E-4	0.024
18	61310458	G	C	18	63643224	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00963322119234525	0.148
18	61310458	G	T	18	63643224	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0255785731633091	0.16
18	61310459	A	C	18	63643225	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00557442096997237	0.11
18	61310459	A	G	18	63643225	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.38793320103413E-4	0.002
18	61310459	A	T	18	63643225	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0713454135431398	0.096
18	61310460	G	A	18	63643226	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.37855768926015E-5	0.002
18	61310460	G	C	18	63643226	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.54627922824618E-5	0.016
18	61310460	G	T	18	63643226	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.76699405689038E-5	0.03
18	61310461	A	C	18	63643227	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0192345252733413	0.182
18	61310461	A	G	18	63643227	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.10335491276374E-4	0.002
18	61310461	A	T	18	63643227	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0977770101427305	0.286
18	61310462	C	A	18	63643228	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.20916457260096E-5	0.0
18	61310462	C	G	18	63643228	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.28906923214587E-5	0.0
18	61310462	C	T	18	63643228	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.26214865331175E-5	0.0
18	61310463	A	C	18	63643229	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999388699286813	0.968
18	61310463	A	G	18	63643229	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.62224436023125E-4	0.0
18	61310463	A	T	18	63643229	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999605345161568	0.942
18	61310639	A	C	18	63643405	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.69740288889339E-4	0.038
18	61310639	A	G	18	63643405	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.48831439287035E-5	0.0
18	61310639	A	T	18	63643405	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00131404830525388	0.046
18	61310640	T	A	18	63643406	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.64087684959545E-4	0.0
18	61310640	T	C	18	63643406	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.24045982485134E-4	0.0
18	61310640	T	G	18	63643406	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.78389654127837E-5	0.0
18	61310641	A	C	18	63643407	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.44520451924459E-4	0.108
18	61310641	A	G	18	63643407	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00130280260016587	0.204
18	61310641	A	T	18	63643407	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.89359515832235E-4	0.098
18	61310642	G	A	18	63643408	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.77817641649488E-4	0.0
18	61310642	G	C	18	63643408	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.08588598534006E-5	0.014
18	61310642	G	T	18	63643408	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.33474291067914E-5	0.004
18	61310643	C	A	18	63643409	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.60456992606266E-6	0.01
18	61310643	C	G	18	63643409	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.38875241124544E-5	0.04
18	61310643	C	T	18	63643409	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.55438480818217E-5	0.03
18	61310644	T	A	18	63643410	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999769752951217	0.964
18	61310644	T	C	18	63643410	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.944737037625003	0.714
18	61310644	T	G	18	63643410	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999559034285947	0.934
18	61310645	A	C	18	63643411	y	y	splicing	SERPINB4(NM_002974:exon3:c.165+2T>G)	.	.	splicing	ENSG00000206073(ENST00000341074:exon3:c.165+2T>G;ENST00000356424:exon3:c.165+2T>G;ENST00000413673:exon2:c.170+2T>G;ENST00000436264:exon3:c.165+2T>G)	.	.	0.999988390207502	0.932
18	61310645	A	G	18	63643411	y	y	splicing	SERPINB4(NM_002974:exon3:c.165+2T>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon3:c.165+2T>C;ENST00000356424:exon3:c.165+2T>C;ENST00000413673:exon2:c.170+2T>C;ENST00000436264:exon3:c.165+2T>C)	.	.	0.975264095401891	0.576
18	61310645	A	T	18	63643411	y	y	splicing	SERPINB4(NM_002974:exon3:c.165+2T>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon3:c.165+2T>A;ENST00000356424:exon3:c.165+2T>A;ENST00000413673:exon2:c.170+2T>A;ENST00000436264:exon3:c.165+2T>A)	.	.	0.999988781533968	0.934
18	61310646	C	A	18	63643412	y	y	splicing	SERPINB4(NM_002974:exon3:c.165+1G>T)	.	.	splicing	ENSG00000206073(ENST00000341074:exon3:c.165+1G>T;ENST00000356424:exon3:c.165+1G>T;ENST00000413673:exon2:c.170+1G>T;ENST00000436264:exon3:c.165+1G>T)	.	.	0.999964896440643	0.934
18	61310646	C	G	18	63643412	y	y	splicing	SERPINB4(NM_002974:exon3:c.165+1G>C)	.	.	splicing	ENSG00000206073(ENST00000341074:exon3:c.165+1G>C;ENST00000356424:exon3:c.165+1G>C;ENST00000413673:exon2:c.170+1G>C;ENST00000436264:exon3:c.165+1G>C)	.	.	0.999964896440643	0.936
18	61310646	C	T	18	63643412	y	y	splicing	SERPINB4(NM_002974:exon3:c.165+1G>A)	.	.	splicing	ENSG00000206073(ENST00000341074:exon3:c.165+1G>A;ENST00000356424:exon3:c.165+1G>A;ENST00000413673:exon2:c.170+1G>A;ENST00000436264:exon3:c.165+1G>A)	.	.	0.999946188727699	0.936
18	61310647	C	A	18	63643413	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon2:c.G165T:p.K55N;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon2:c.G165T:p.K55N;ENSG00000206073:ENST00000436264:exon2:c.G165T:p.K55N;ENSG00000206073:ENST00000356424:exon2:c.G165T:p.K55N;	0.999981483337168	1.0
18	61310647	C	G	18	63643413	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon2:c.G165C:p.K55N;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon2:c.G165C:p.K55N;ENSG00000206073:ENST00000436264:exon2:c.G165C:p.K55N;ENSG00000206073:ENST00000356424:exon2:c.G165C:p.K55N;	0.999997781801936	1.0
18	61310647	C	T	18	63643413	y	y	exonic	SERPINB4	synonymous SNV	SERPINB4:NM_002974:exon2:c.G165A:p.K55K;	exonic	ENSG00000206073	synonymous SNV	ENSG00000206073:ENST00000341074:exon2:c.G165A:p.K55K;ENSG00000206073:ENST00000436264:exon2:c.G165A:p.K55K;ENSG00000206073:ENST00000356424:exon2:c.G165A:p.K55K;	0.999991237593525	0.92
18	61310648	T	A	18	63643414	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon2:c.A164T:p.K55M;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon2:c.A164T:p.K55M;ENSG00000206073:ENST00000436264:exon2:c.A164T:p.K55M;ENSG00000206073:ENST00000356424:exon2:c.A164T:p.K55M;	0.999941008176777	0.998
18	61310648	T	C	18	63643414	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon2:c.A164G:p.K55R;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon2:c.A164G:p.K55R;ENSG00000206073:ENST00000436264:exon2:c.A164G:p.K55R;ENSG00000206073:ENST00000356424:exon2:c.A164G:p.K55R;	0.999936814905722	0.982
18	61310648	T	G	18	63643414	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon2:c.A164C:p.K55T;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon2:c.A164C:p.K55T;ENSG00000206073:ENST00000436264:exon2:c.A164C:p.K55T;ENSG00000206073:ENST00000356424:exon2:c.A164C:p.K55T;	0.999852016698917	0.986
18	61310649	T	A	18	63643415	y	y	exonic	SERPINB4	stopgain SNV	SERPINB4:NM_002974:exon2:c.A163T:p.K55X;	exonic	ENSG00000206073	stopgain SNV	ENSG00000206073:ENST00000341074:exon2:c.A163T:p.K55X;ENSG00000206073:ENST00000436264:exon2:c.A163T:p.K55X;ENSG00000206073:ENST00000356424:exon2:c.A163T:p.K55X;	0.419661400211056	0.568
18	61310649	T	C	18	63643415	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon2:c.A163G:p.K55E;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon2:c.A163G:p.K55E;ENSG00000206073:ENST00000436264:exon2:c.A163G:p.K55E;ENSG00000206073:ENST00000356424:exon2:c.A163G:p.K55E;	4.88312755475672E-4	0.008
18	61310649	T	G	18	63643415	y	y	exonic	SERPINB4	nonsynonymous SNV	SERPINB4:NM_002974:exon2:c.A163C:p.K55Q;	exonic	ENSG00000206073	nonsynonymous SNV	ENSG00000206073:ENST00000341074:exon2:c.A163C:p.K55Q;ENSG00000206073:ENST00000436264:exon2:c.A163C:p.K55Q;ENSG00000206073:ENST00000356424:exon2:c.A163C:p.K55Q;	1.10234092280819E-4	0.002
18	61310836	T	A	18	63643602	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.578156338619782	0.442
18	61310836	T	C	18	63643602	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.465729363591703	0.398
18	61310836	T	G	18	63643602	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.426022624863989	0.51
18	61310837	C	A	18	63643603	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.981671586575223	0.85
18	61310837	C	G	18	63643603	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.786500049930307	0.78
18	61310837	C	T	18	63643603	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.0501733435613901	0.298
18	61310838	C	A	18	63643604	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999984499615574	0.936
18	61310838	C	G	18	63643604	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999984499615574	0.936
18	61310838	C	T	18	63643604	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.99998634020824	0.938
18	61310839	T	A	18	63643605	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999992263738125	0.944
18	61310839	T	C	18	63643605	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999992263738125	0.944
18	61310839	T	G	18	63643605	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999992263738125	0.944
18	61310840	G	A	18	63643606	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00252024768154287	0.084
18	61310840	G	C	18	63643606	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999627314639854	0.892
18	61310840	G	T	18	63643606	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.991715989692245	0.756
18	61310841	G	A	18	63643607	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.60113588569988E-4	0.11
18	61310841	G	C	18	63643607	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00128717315479523	0.074
18	61310841	G	T	18	63643607	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.24804031845041E-4	0.12
18	61310842	A	C	18	63643608	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.980335043224447	0.654
18	61310842	A	G	18	63643608	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.00429138607365219	0.14
18	61310842	A	T	18	63643608	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.945076224884184	0.61
18	61310843	A	C	18	63643609	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.917321982001862	0.698
18	61310843	A	G	18	63643609	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.5566009620788E-4	0.126
18	61310843	A	T	18	63643609	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.845845494306331	0.644
18	61310844	A	C	18	63643610	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0168106637364255	0.252
18	61310844	A	G	18	63643610	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.65583269550746E-5	0.064
18	61310844	A	T	18	63643610	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.750017976324088	0.574
18	61310845	A	C	18	63643611	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.983771124884534	0.634
18	61310845	A	G	18	63643611	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.138496450863872	0.43
18	61310845	A	T	18	63643611	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.996333380549578	0.808
18	61310846	G	A	18	63643612	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	9.32597787349884E-4	0.3
18	61310846	G	C	18	63643612	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.44561627311594E-4	0.164
18	61310846	G	T	18	63643612	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0081223239683318	0.23
18	61310847	C	A	18	63643613	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0562078239502498	0.428
18	61310847	C	G	18	63643613	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.0562078239502498	0.392
18	61310847	C	T	18	63643613	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.236817179702206	0.356
18	61310848	A	C	18	63643614	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999989252736085	0.984
18	61310848	A	G	18	63643614	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.951604028563017	0.678
18	61310848	A	T	18	63643614	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.999989252736085	0.986
18	61310849	T	A	18	63643615	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.97218078610767E-6	0.07
18	61310849	T	C	18	63643615	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	8.40494404453593E-6	0.048
18	61310849	T	G	18	63643615	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.82469624026843E-6	0.026
18	61311435	G	A	18	63644201	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.45765818403662E-5	0.0
18	61311435	G	C	18	63644201	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.49302493830456E-5	0.0
18	61311435	G	T	18	63644201	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	4.49302493830456E-5	0.0
18	61311436	C	A	18	63644202	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	5.87826475473121E-5	0.042
18	61311436	C	G	18	63644202	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.79641626898212E-5	0.042
18	61311436	C	T	18	63644202	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	6.43949593129782E-5	0.042
18	61311437	T	A	18	63644203	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	2.71900748857083E-5	0.0
18	61311437	T	C	18	63644203	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	1.41108527848434E-5	0.01
18	61311437	T	G	18	63644203	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	3.24867829004845E-5	0.012
18	61311438	C	A	18	63644204	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.761627347006619	0.496
18	61311438	C	G	18	63644204	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.799368454675813	0.546
18	61311438	C	T	18	63644204	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.841483504060069	0.518
18	61311439	T	A	18	63644205	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.706526510266973	0.488
18	61311439	T	C	18	63644205	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.48332617259862	0.392
18	61311439	T	G	18	63644205	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.471507688331629	0.504
18	61311440	T	A	18	63644206	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.675437973328747	0.45
18	61311440	T	C	18	63644206	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	7.8975268291113E-4	0.004
18	61311440	T	G	18	63644206	y	y	intronic	SERPINB4	.	.	intronic	ENSG00000206073	.	.	0.47461876064814	0.446
18	61311441	A	C	18	63644207	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999962958601995	0.842
18	61311441	A	G	18	63644207	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.92420761630763	0.548
18	61311441	A	T	18	63644207	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999969255906173	0.86
18	61311442	C	A	18	63644208	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999958003653399	0.836
18	61311442	C	G	18	63644208	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999958003653399	0.804
18	61311442	C	T	18	63644208	y	y	splicing	SERPINB4	.	.	splicing	ENSG00000206073	.	.	0.999965661484771	0.846
18	61311443	C	A	18	63644209	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.991213617806101	0.762
18	61311443	C	G	18	63644209	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.958998902397803	0.694
18	61311443	C	T	18	63644209	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.536439967890152	0.59
18	61311444	T	A	18	63644210	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.0176757074429646	0.252
18	61311444	T	C	18	63644210	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.0182179531836162	0.196
18	61311444	T	G	18	63644210	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.0193919789249039	0.35
18	61311445	G	A	18	63644211	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	0.00105527311342693	0.178
18	61311445	G	C	18	63644211	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	8.54226230672839E-5	0.052
18	61311445	G	T	18	63644211	y	y	UTR5	SERPINB4	.	.	UTR5	ENSG00000206073	.	.	8.24605331962442E-5	0.054
18	61323294	A	C	18	63656060	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon8:c.T770G:p.L257R;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon7:c.T614G:p.L205R;ENSG00000057149:ENST00000283752:exon8:c.T770G:p.L257R;	0.184902649546279	0.372
18	61323294	A	G	18	63656060	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon8:c.T770C:p.L257P;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon7:c.T614C:p.L205P;ENSG00000057149:ENST00000283752:exon8:c.T770C:p.L257P;	0.256992886558786	0.368
18	61323294	A	T	18	63656060	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon8:c.T770A:p.L257H;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon7:c.T614A:p.L205H;ENSG00000057149:ENST00000283752:exon8:c.T770A:p.L257H;	0.141990828895537	0.36
18	61323295	G	A	18	63656061	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon8:c.C769T:p.L257F;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon7:c.C613T:p.L205F;ENSG00000057149:ENST00000283752:exon8:c.C769T:p.L257F;	4.31361830768557E-4	0.228
18	61323295	G	C	18	63656061	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon8:c.C769G:p.L257V;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon7:c.C613G:p.L205V;ENSG00000057149:ENST00000283752:exon8:c.C769G:p.L257V;	9.67698763258877E-5	0.198
18	61323295	G	T	18	63656061	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon8:c.C769A:p.L257I;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon7:c.C613A:p.L205I;ENSG00000057149:ENST00000283752:exon8:c.C769A:p.L257I;	2.81016107646167E-5	0.002
18	61323296	C	A	18	63656062	y	y	splicing	SERPINB3(NM_006919:exon9:c.769-1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon9:c.769-1G>T;ENST00000332821:exon8:c.613-1G>T)	.	.	0.999981808176352	0.924
18	61323296	C	G	18	63656062	y	y	splicing	SERPINB3(NM_006919:exon9:c.769-1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon9:c.769-1G>C;ENST00000332821:exon8:c.613-1G>C)	.	.	0.999981808176352	0.924
18	61323296	C	T	18	63656062	y	y	splicing	SERPINB3(NM_006919:exon9:c.769-1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon9:c.769-1G>A;ENST00000332821:exon8:c.613-1G>A)	.	.	0.999981808176352	0.924
18	61323297	T	A	18	63656063	y	y	splicing	SERPINB3(NM_006919:exon9:c.769-2A>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon9:c.769-2A>T;ENST00000332821:exon8:c.613-2A>T)	.	.	0.999993672935256	0.928
18	61323297	T	C	18	63656063	y	y	splicing	SERPINB3(NM_006919:exon9:c.769-2A>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon9:c.769-2A>G;ENST00000332821:exon8:c.613-2A>G)	.	.	0.999993672935256	0.928
18	61323297	T	G	18	63656063	y	y	splicing	SERPINB3(NM_006919:exon9:c.769-2A>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon9:c.769-2A>C;ENST00000332821:exon8:c.613-2A>C)	.	.	0.999993672935256	0.928
18	61323298	A	C	18	63656064	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.991747710403443	0.656
18	61323298	A	G	18	63656064	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.26074943467397E-4	0.03
18	61323298	A	T	18	63656064	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00467038781004443	0.212
18	61323299	T	A	18	63656065	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.07547978151187E-5	0.0
18	61323299	T	C	18	63656065	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.13175822248369E-4	0.0
18	61323299	T	G	18	63656065	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.9108833340099E-5	0.0
18	61323300	A	C	18	63656066	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.606182819237005	0.542
18	61323300	A	G	18	63656066	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00170336707870096	0.102
18	61323300	A	T	18	63656066	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.752146910417758	0.54
18	61323301	C	A	18	63656067	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.65047354028333E-5	0.0
18	61323301	C	G	18	63656067	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.3135069106673E-5	0.058
18	61323301	C	T	18	63656067	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.89670348588261E-5	0.0
18	61323302	A	C	18	63656068	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00122319948418236	0.228
18	61323302	A	G	18	63656068	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.67683008386545E-6	0.024
18	61323302	A	T	18	63656068	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.998237490554652	0.854
18	61323303	A	C	18	63656069	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00144818787361673	0.07
18	61323303	A	G	18	63656069	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.91813959667083E-6	0.0
18	61323303	A	T	18	63656069	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.84649572184949E-4	0.066
18	61323304	A	C	18	63656070	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999936601417107	0.972
18	61323304	A	G	18	63656070	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.58984103998507E-5	0.006
18	61323304	A	T	18	63656070	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0136666024294377	0.268
18	61323305	T	A	18	63656071	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.21030561638132E-6	0.0
18	61323305	T	C	18	63656071	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.31286747032929E-5	0.0
18	61323305	T	G	18	63656071	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.51609758500463E-5	0.006
18	61323306	G	A	18	63656072	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.921129813651E-5	0.0
18	61323306	G	C	18	63656072	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.79368303472502E-5	0.118
18	61323306	G	T	18	63656072	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.30688648836201E-4	0.066
18	61323307	G	A	18	63656073	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.20916457260096E-5	0.0
18	61323307	G	C	18	63656073	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.91194598567621E-4	0.014
18	61323307	G	T	18	63656073	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.71121371169892E-4	0.014
18	61324057	G	A	18	63656823	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.41069364790736E-5	0.002
18	61324057	G	C	18	63656823	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.01559384236425E-5	0.0
18	61324057	G	T	18	63656823	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.01559384236425E-5	0.02
18	61324058	T	A	18	63656824	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.55312683788388E-6	0.004
18	61324058	T	C	18	63656824	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.05714549836922E-5	0.004
18	61324058	T	G	18	63656824	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.05714549836922E-5	0.004
18	61324059	T	A	18	63656825	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.20002887350057E-5	0.012
18	61324059	T	C	18	63656825	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.35510288724386E-5	0.006
18	61324059	T	G	18	63656825	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.62622280532506E-5	0.012
18	61324060	C	A	18	63656826	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.128143276107667	0.264
18	61324060	C	G	18	63656826	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.103320134877452	0.302
18	61324060	C	T	18	63656826	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.181666413733744	0.288
18	61324061	T	A	18	63656827	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0814788536808481	0.468
18	61324061	T	C	18	63656827	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.106388222408808	0.498
18	61324061	T	G	18	63656827	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0837184236985854	0.416
18	61324062	T	A	18	63656828	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.58805799686102	0.566
18	61324062	T	C	18	63656828	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.83117755253594E-4	0.11
18	61324062	T	G	18	63656828	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.535774068703608	0.606
18	61324063	A	C	18	63656829	y	y	splicing	SERPINB3(NM_006919:exon8:c.768+2T>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.768+2T>G)	.	.	0.999991075634663	0.762
18	61324063	A	G	18	63656829	y	y	splicing	SERPINB3(NM_006919:exon8:c.768+2T>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.768+2T>C)	.	.	0.937318678236274	0.432
18	61324063	A	T	18	63656829	y	y	splicing	SERPINB3(NM_006919:exon8:c.768+2T>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.768+2T>A)	.	.	0.999993157286337	0.76
18	61324064	C	A	18	63656830	y	y	splicing	SERPINB3(NM_006919:exon8:c.768+1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.768+1G>T)	.	.	0.999984399620937	0.758
18	61324064	C	G	18	63656830	y	y	splicing	SERPINB3(NM_006919:exon8:c.768+1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.768+1G>C)	.	.	0.999989378869813	0.758
18	61324064	C	T	18	63656830	y	y	splicing	SERPINB3(NM_006919:exon8:c.768+1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.768+1G>A)	.	.	0.999980255680118	0.75
18	61324065	C	A	18	63656831	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.G768T:p.K256N;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.G768T:p.K256N;	0.99351260637229	0.952
18	61324065	C	G	18	63656831	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.G768C:p.K256N;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.G768C:p.K256N;	0.997182163190552	0.842
18	61324065	C	T	18	63656831	y	y	exonic	SERPINB3	synonymous SNV	SERPINB3:NM_006919:exon7:c.G768A:p.K256K;	exonic	ENSG00000057149	synonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.G768A:p.K256K;	0.883009780153277	0.624
18	61324066	T	A	18	63656832	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A767T:p.K256M;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A767T:p.K256M;	0.76626623121143	0.516
18	61324066	T	C	18	63656832	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A767G:p.K256R;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A767G:p.K256R;	0.935221615097975	0.8
18	61324066	T	G	18	63656832	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A767C:p.K256T;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A767C:p.K256T;	0.765298629362722	0.678
18	61324067	T	A	18	63656833	y	y	exonic	SERPINB3	stopgain SNV	SERPINB3:NM_006919:exon7:c.A766T:p.K256X;	exonic	ENSG00000057149	stopgain SNV	ENSG00000057149:ENST00000283752:exon7:c.A766T:p.K256X;	0.00270405502112898	0.204
18	61324067	T	C	18	63656833	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A766G:p.K256E;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A766G:p.K256E;	6.00756564040952E-5	0.012
18	61324067	T	G	18	63656833	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A766C:p.K256Q;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A766C:p.K256Q;	1.91935316225311E-5	0.01
18	61324219	T	A	18	63656985	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A614T:p.N205I;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A614T:p.N205I;	1.25968765042639E-5	0.042
18	61324219	T	C	18	63656985	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A614G:p.N205S;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A614G:p.N205S;	1.90168237768815E-5	0.016
18	61324219	T	G	18	63656985	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A614C:p.N205T;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A614C:p.N205T;	3.29475314289634E-5	0.008
18	61324220	T	A	18	63656986	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A613T:p.N205Y;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A613T:p.N205Y;	8.96920237579901E-4	0.118
18	61324220	T	C	18	63656986	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A613G:p.N205D;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A613G:p.N205D;	1.67944982512943E-5	0.0
18	61324220	T	G	18	63656986	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.A613C:p.N205H;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000283752:exon7:c.A613C:p.N205H;	0.00381690199383163	0.198
18	61324221	C	A	18	63656987	y	y	splicing	SERPINB3(NM_006919:exon8:c.613-1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.613-1G>T)	.	.	0.999927933549669	0.71
18	61324221	C	G	18	63656987	y	y	splicing	SERPINB3(NM_006919:exon8:c.613-1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.613-1G>C)	.	.	0.999927933549669	0.704
18	61324221	C	T	18	63656987	y	y	splicing	SERPINB3(NM_006919:exon8:c.613-1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.613-1G>A)	.	.	0.999927933549669	0.714
18	61324222	T	A	18	63656988	y	y	splicing	SERPINB3(NM_006919:exon8:c.613-2A>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.613-2A>T)	.	.	0.99999282673059	0.776
18	61324222	T	C	18	63656988	y	y	splicing	SERPINB3(NM_006919:exon8:c.613-2A>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.613-2A>G)	.	.	0.999980859638968	0.788
18	61324222	T	G	18	63656988	y	y	splicing	SERPINB3(NM_006919:exon8:c.613-2A>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon8:c.613-2A>C)	.	.	0.999980859638968	0.786
18	61324223	A	C	18	63656989	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.711230671517807	0.582
18	61324223	A	G	18	63656989	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.17057649440429E-5	0.008
18	61324223	A	T	18	63656989	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00608616826060936	0.202
18	61324224	C	A	18	63656990	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.92141113907519E-5	0.0
18	61324224	C	G	18	63656990	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.84248530467363E-5	0.002
18	61324224	C	T	18	63656990	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.06721105004204E-5	0.008
18	61324225	A	C	18	63656991	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.974296928080803	0.632
18	61324225	A	G	18	63656991	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0220316224824859	0.138
18	61324225	A	T	18	63656991	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999915246338355	0.948
18	61324226	A	C	18	63656992	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999917023464373	0.978
18	61324226	A	G	18	63656992	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.0808042086315E-4	0.032
18	61324226	A	T	18	63656992	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0975469459018841	0.354
18	61324227	T	A	18	63656993	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.20175216104126E-5	0.0
18	61324227	T	C	18	63656993	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.6815803950322E-6	0.002
18	61324227	T	G	18	63656993	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.20175216104126E-5	0.0
18	61324228	A	C	18	63656994	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.387962677881818	0.502
18	61324228	A	G	18	63656994	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.76421246295631E-4	0.044
18	61324228	A	T	18	63656994	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.219248867755232	0.346
18	61324229	A	C	18	63656995	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0107020018222767	0.282
18	61324229	A	G	18	63656995	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.41879172878304E-5	0.044
18	61324229	A	T	18	63656995	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00835766372863115	0.294
18	61324230	A	C	18	63656996	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999984103500797	0.97
18	61324230	A	G	18	63656996	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00203451285316901	0.114
18	61324230	A	T	18	63656996	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0948093085735116	0.45
18	61324231	T	A	18	63656997	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.50233761691228E-4	0.142
18	61324231	T	C	18	63656997	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.49782505640726E-5	0.004
18	61324231	T	G	18	63656997	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.44231320660856E-5	0.004
18	61324232	C	A	18	63656998	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.26282657477284E-5	0.0
18	61324232	C	G	18	63656998	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.33684777350849E-5	0.0
18	61324232	C	T	18	63656998	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.09781222853409E-5	0.012
18	61324496	G	A	18	63657262	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.50708352480861E-5	0.0
18	61324496	G	C	18	63657262	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.02458730502264E-5	0.0
18	61324496	G	T	18	63657262	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.2759074700691E-5	0.0
18	61324497	A	C	18	63657263	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.31544784568058E-5	0.0
18	61324497	A	G	18	63657263	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.37365400966058E-5	0.002
18	61324497	A	T	18	63657263	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.31544784568058E-5	0.0
18	61324498	C	A	18	63657264	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.25019331479774E-5	0.022
18	61324498	C	G	18	63657264	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.00036984059622E-4	0.014
18	61324498	C	T	18	63657264	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.15385021978972E-5	0.002
18	61324499	A	C	18	63657265	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.49108005457703E-4	0.134
18	61324499	A	G	18	63657265	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.64319219226157E-4	0.008
18	61324499	A	T	18	63657265	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.97052167931625E-5	0.01
18	61324500	A	C	18	63657266	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.55006369725371E-4	0.014
18	61324500	A	G	18	63657266	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.18452951472143E-4	0.024
18	61324500	A	T	18	63657266	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.9768949488053E-4	0.114
18	61324501	T	A	18	63657267	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999967039757033	0.978
18	61324501	T	C	18	63657267	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.9998471692593	0.948
18	61324501	T	G	18	63657267	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999967039757033	0.978
18	61324502	A	C	18	63657268	y	y	splicing	SERPINB3(NM_006919:exon7:c.612+2T>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.612+2T>G;ENST00000332821:exon7:c.612+2T>G)	.	.	0.999994723900236	0.944
18	61324502	A	G	18	63657268	y	y	splicing	SERPINB3(NM_006919:exon7:c.612+2T>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.612+2T>C;ENST00000332821:exon7:c.612+2T>C)	.	.	0.986561639863224	0.556
18	61324502	A	T	18	63657268	y	y	splicing	SERPINB3(NM_006919:exon7:c.612+2T>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.612+2T>A;ENST00000332821:exon7:c.612+2T>A)	.	.	0.999994723900236	0.944
18	61324503	C	A	18	63657269	y	y	splicing	SERPINB3(NM_006919:exon7:c.612+1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.612+1G>T;ENST00000332821:exon7:c.612+1G>T)	.	.	0.999990155693597	0.942
18	61324503	C	G	18	63657269	y	y	splicing	SERPINB3(NM_006919:exon7:c.612+1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.612+1G>C;ENST00000332821:exon7:c.612+1G>C)	.	.	0.999990155693597	0.942
18	61324503	C	T	18	63657269	y	y	splicing	SERPINB3(NM_006919:exon7:c.612+1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.612+1G>A;ENST00000332821:exon7:c.612+1G>A)	.	.	0.999990155693597	0.942
18	61324504	C	A	18	63657270	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.G612T:p.K204N;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.G612T:p.K204N;ENSG00000057149:ENST00000283752:exon6:c.G612T:p.K204N;	0.999994519143398	0.998
18	61324504	C	G	18	63657270	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.G612C:p.K204N;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.G612C:p.K204N;ENSG00000057149:ENST00000283752:exon6:c.G612C:p.K204N;	0.999998247301519	0.998
18	61324504	C	T	18	63657270	y	y	exonic	SERPINB3	synonymous SNV	SERPINB3:NM_006919:exon6:c.G612A:p.K204K;	exonic	ENSG00000057149	synonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.G612A:p.K204K;ENSG00000057149:ENST00000283752:exon6:c.G612A:p.K204K;	0.999990876262915	1.0
18	61324505	T	A	18	63657271	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A611T:p.K204M;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A611T:p.K204M;ENSG00000057149:ENST00000283752:exon6:c.A611T:p.K204M;	0.999940932246523	0.982
18	61324505	T	C	18	63657271	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A611G:p.K204R;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A611G:p.K204R;ENSG00000057149:ENST00000283752:exon6:c.A611G:p.K204R;	0.999783876391502	0.976
18	61324505	T	G	18	63657271	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A611C:p.K204T;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A611C:p.K204T;ENSG00000057149:ENST00000283752:exon6:c.A611C:p.K204T;	0.999814021172446	0.976
18	61324506	T	A	18	63657272	y	y	exonic	SERPINB3	stopgain SNV	SERPINB3:NM_006919:exon6:c.A610T:p.K204X;	exonic	ENSG00000057149	stopgain SNV	ENSG00000057149:ENST00000332821:exon6:c.A610T:p.K204X;ENSG00000057149:ENST00000283752:exon6:c.A610T:p.K204X;	0.984648308532126	0.788
18	61324506	T	C	18	63657272	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A610G:p.K204E;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A610G:p.K204E;ENSG00000057149:ENST00000283752:exon6:c.A610G:p.K204E;	0.09884329511473	0.254
18	61324506	T	G	18	63657272	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A610C:p.K204Q;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A610C:p.K204Q;ENSG00000057149:ENST00000283752:exon6:c.A610C:p.K204Q;	0.492988913591448	0.548
18	61324645	T	A	18	63657411	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A471T:p.E157D;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A471T:p.E157D;ENSG00000057149:ENST00000283752:exon6:c.A471T:p.E157D;	1.85865135332969E-4	0.012
18	61324645	T	C	18	63657411	y	y	exonic	SERPINB3	synonymous SNV	SERPINB3:NM_006919:exon6:c.A471G:p.E157E;	exonic	ENSG00000057149	synonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A471G:p.E157E;ENSG00000057149:ENST00000283752:exon6:c.A471G:p.E157E;	3.28624435335428E-5	0.016
18	61324645	T	G	18	63657411	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A471C:p.E157D;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A471C:p.E157D;ENSG00000057149:ENST00000283752:exon6:c.A471C:p.E157D;	4.04231992292302E-4	0.016
18	61324646	T	A	18	63657412	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A470T:p.E157V;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A470T:p.E157V;ENSG00000057149:ENST00000283752:exon6:c.A470T:p.E157V;	0.00107892040590925	0.058
18	61324646	T	C	18	63657412	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A470G:p.E157G;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A470G:p.E157G;ENSG00000057149:ENST00000283752:exon6:c.A470G:p.E157G;	1.52846510628033E-5	0.014
18	61324646	T	G	18	63657412	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon6:c.A470C:p.E157A;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon6:c.A470C:p.E157A;ENSG00000057149:ENST00000283752:exon6:c.A470C:p.E157A;	6.88993410028679E-5	0.036
18	61324647	C	A	18	63657413	y	y	splicing	SERPINB3(NM_006919:exon7:c.470-1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.470-1G>T;ENST00000332821:exon7:c.470-1G>T)	.	.	0.999967001206676	0.944
18	61324647	C	G	18	63657413	y	y	splicing	SERPINB3(NM_006919:exon7:c.470-1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.470-1G>C;ENST00000332821:exon7:c.470-1G>C)	.	.	0.999967001206676	0.944
18	61324647	C	T	18	63657413	y	y	splicing	SERPINB3(NM_006919:exon7:c.470-1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.470-1G>A;ENST00000332821:exon7:c.470-1G>A)	.	.	0.999967001206676	0.938
18	61324648	T	A	18	63657414	y	y	splicing	SERPINB3(NM_006919:exon7:c.470-2A>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.470-2A>T;ENST00000332821:exon7:c.470-2A>T)	.	.	0.999982313960041	0.944
18	61324648	T	C	18	63657414	y	y	splicing	SERPINB3(NM_006919:exon7:c.470-2A>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.470-2A>G;ENST00000332821:exon7:c.470-2A>G)	.	.	0.999982313960041	0.944
18	61324648	T	G	18	63657414	y	y	splicing	SERPINB3(NM_006919:exon7:c.470-2A>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon7:c.470-2A>C;ENST00000332821:exon7:c.470-2A>C)	.	.	0.999982313960041	0.944
18	61324649	G	A	18	63657415	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.97746587443027E-4	0.074
18	61324649	G	C	18	63657415	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999762969925497	0.968
18	61324649	G	T	18	63657415	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.783333539892954	0.534
18	61324650	C	A	18	63657416	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.38670163659751E-5	0.0
18	61324650	C	G	18	63657416	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.28538314498102E-5	0.002
18	61324650	C	T	18	63657416	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.10652493773046E-5	0.008
18	61324651	A	C	18	63657417	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.134707844045947	0.246
18	61324651	A	G	18	63657417	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0121645908735501	0.088
18	61324651	A	T	18	63657417	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999639225711298	0.886
18	61324652	A	C	18	63657418	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0401574203537821	0.18
18	61324652	A	G	18	63657418	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.03991252985927E-4	0.046
18	61324652	A	T	18	63657418	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.04489494403328	0.126
18	61324653	G	A	18	63657419	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.96903827915648E-5	0.002
18	61324653	G	C	18	63657419	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.36365481935879E-4	0.062
18	61324653	G	T	18	63657419	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.30464175610779E-4	0.046
18	61324654	G	A	18	63657420	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.59793323597462E-5	0.0
18	61324654	G	C	18	63657420	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.19038089966499E-5	0.002
18	61324654	G	T	18	63657420	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.32479967828335E-5	0.048
18	61324655	G	A	18	63657421	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.36799031398642E-5	0.01
18	61324655	G	C	18	63657421	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.75257563359149E-4	0.008
18	61324655	G	T	18	63657421	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.1392329860622E-4	0.01
18	61324656	A	C	18	63657422	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.75847912458692E-4	0.086
18	61324656	A	G	18	63657422	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.53412081071178E-5	0.012
18	61324656	A	T	18	63657422	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.85539905508817E-4	0.056
18	61324657	A	C	18	63657423	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0433646289614492	0.216
18	61324657	A	G	18	63657423	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00134515601583726	0.056
18	61324657	A	T	18	63657423	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0242688269000078	0.214
18	61324658	A	C	18	63657424	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.75814903727917E-4	0.044
18	61324658	A	G	18	63657424	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.62181533428931E-5	0.0
18	61324658	A	T	18	63657424	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.67106642209798E-4	0.058
18	61325739	T	A	18	63658505	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.26569577813692E-5	0.0
18	61325739	T	C	18	63658505	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.22660495981372E-5	0.0
18	61325739	T	G	18	63658505	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.26569577813692E-5	0.006
18	61325740	C	A	18	63658506	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.78356043763535E-4	0.028
18	61325740	C	G	18	63658506	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.35960253604177E-4	0.038
18	61325740	C	T	18	63658506	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.42801341576539E-4	0.052
18	61325741	T	A	18	63658507	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.8261699491418E-5	0.048
18	61325741	T	C	18	63658507	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.5880024985888E-4	0.058
18	61325741	T	G	18	63658507	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.01217098938951E-4	0.044
18	61325742	C	A	18	63658508	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999778643354302	0.808
18	61325742	C	G	18	63658508	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999897155234818	0.826
18	61325742	C	T	18	63658508	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999879143174109	0.816
18	61325743	C	A	18	63658509	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.71725294969161E-5	0.006
18	61325743	C	G	18	63658509	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.57729566828526E-5	0.026
18	61325743	C	T	18	63658509	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.32250677049923E-5	0.014
18	61325744	T	A	18	63658510	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.998729670364996	0.876
18	61325744	T	C	18	63658510	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.902992676799503	0.648
18	61325744	T	G	18	63658510	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999362470738788	0.858
18	61325745	A	C	18	63658511	y	y	splicing	SERPINB3(NM_006919:exon6:c.469+2T>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.469+2T>G;ENST00000332821:exon6:c.469+2T>G)	.	.	0.999983475715746	0.886
18	61325745	A	G	18	63658511	y	y	splicing	SERPINB3(NM_006919:exon6:c.469+2T>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.469+2T>C;ENST00000332821:exon6:c.469+2T>C)	.	.	0.999727372141058	0.874
18	61325745	A	T	18	63658511	y	y	splicing	SERPINB3(NM_006919:exon6:c.469+2T>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.469+2T>A;ENST00000332821:exon6:c.469+2T>A)	.	.	0.999989408297863	0.91
18	61325746	C	A	18	63658512	y	y	splicing	SERPINB3(NM_006919:exon6:c.469+1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.469+1G>T;ENST00000332821:exon6:c.469+1G>T)	.	.	0.999979863570546	0.91
18	61325746	C	G	18	63658512	y	y	splicing	SERPINB3(NM_006919:exon6:c.469+1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.469+1G>C;ENST00000332821:exon6:c.469+1G>C)	.	.	0.999979863570546	0.91
18	61325746	C	T	18	63658512	y	y	splicing	SERPINB3(NM_006919:exon6:c.469+1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.469+1G>A;ENST00000332821:exon6:c.469+1G>A)	.	.	0.999979863570546	0.91
18	61325747	C	A	18	63658513	y	y	exonic	SERPINB3	stopgain SNV	SERPINB3:NM_006919:exon5:c.G469T:p.E157X;	exonic	ENSG00000057149	stopgain SNV	ENSG00000057149:ENST00000332821:exon5:c.G469T:p.E157X;ENSG00000057149:ENST00000283752:exon5:c.G469T:p.E157X;	0.999991428378146	0.996
18	61325747	C	G	18	63658513	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.G469C:p.E157Q;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.G469C:p.E157Q;ENSG00000057149:ENST00000283752:exon5:c.G469C:p.E157Q;	0.999983808443768	0.992
18	61325747	C	T	18	63658513	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.G469A:p.E157K;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.G469A:p.E157K;ENSG00000057149:ENST00000283752:exon5:c.G469A:p.E157K;	0.999995723778502	0.988
18	61325748	A	C	18	63658514	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.T468G:p.N156K;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.T468G:p.N156K;ENSG00000057149:ENST00000283752:exon5:c.T468G:p.N156K;	0.0205082756877995	0.126
18	61325748	A	G	18	63658514	y	y	exonic	SERPINB3	synonymous SNV	SERPINB3:NM_006919:exon5:c.T468C:p.N156N;	exonic	ENSG00000057149	synonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.T468C:p.N156N;ENSG00000057149:ENST00000283752:exon5:c.T468C:p.N156N;	0.00109901110429608	0.042
18	61325748	A	T	18	63658514	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.T468A:p.N156K;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.T468A:p.N156K;ENSG00000057149:ENST00000283752:exon5:c.T468A:p.N156K;	0.00547951517732016	0.21
18	61325749	T	A	18	63658515	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.A467T:p.N156I;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.A467T:p.N156I;ENSG00000057149:ENST00000283752:exon5:c.A467T:p.N156I;	0.954200639496086	0.714
18	61325749	T	C	18	63658515	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.A467G:p.N156S;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.A467G:p.N156S;ENSG00000057149:ENST00000283752:exon5:c.A467G:p.N156S;	0.335390874301177	0.398
18	61325749	T	G	18	63658515	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.A467C:p.N156T;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.A467C:p.N156T;ENSG00000057149:ENST00000283752:exon5:c.A467C:p.N156T;	0.0540385036156599	0.284
18	61325863	T	A	18	63658629	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.A353T:p.E118V;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.A353T:p.E118V;ENSG00000057149:ENST00000283752:exon5:c.A353T:p.E118V;	6.07166963468816E-4	0.046
18	61325863	T	C	18	63658629	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.A353G:p.E118G;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.A353G:p.E118G;ENSG00000057149:ENST00000283752:exon5:c.A353G:p.E118G;	0.00343625309816634	0.02
18	61325863	T	G	18	63658629	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.A353C:p.E118A;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.A353C:p.E118A;ENSG00000057149:ENST00000283752:exon5:c.A353C:p.E118A;	0.00660622381886461	0.06
18	61325864	C	A	18	63658630	y	y	exonic	SERPINB3	stopgain SNV	SERPINB3:NM_006919:exon5:c.G352T:p.E118X;	exonic	ENSG00000057149	stopgain SNV	ENSG00000057149:ENST00000332821:exon5:c.G352T:p.E118X;ENSG00000057149:ENST00000283752:exon5:c.G352T:p.E118X;	0.782907073296078	0.548
18	61325864	C	G	18	63658630	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.G352C:p.E118Q;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.G352C:p.E118Q;ENSG00000057149:ENST00000283752:exon5:c.G352C:p.E118Q;	0.00949323763581995	0.214
18	61325864	C	T	18	63658630	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon5:c.G352A:p.E118K;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon5:c.G352A:p.E118K;ENSG00000057149:ENST00000283752:exon5:c.G352A:p.E118K;	0.00160284064335237	0.182
18	61325865	C	A	18	63658631	y	y	splicing	SERPINB3(NM_006919:exon6:c.352-1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.352-1G>T;ENST00000332821:exon6:c.352-1G>T)	.	.	0.999977724223796	0.77
18	61325865	C	G	18	63658631	y	y	splicing	SERPINB3(NM_006919:exon6:c.352-1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.352-1G>C;ENST00000332821:exon6:c.352-1G>C)	.	.	0.999982399457696	0.77
18	61325865	C	T	18	63658631	y	y	splicing	SERPINB3(NM_006919:exon6:c.352-1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.352-1G>A;ENST00000332821:exon6:c.352-1G>A)	.	.	0.999977724223796	0.798
18	61325866	T	A	18	63658632	y	y	splicing	SERPINB3(NM_006919:exon6:c.352-2A>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.352-2A>T;ENST00000332821:exon6:c.352-2A>T)	.	.	0.99998175524478	0.876
18	61325866	T	C	18	63658632	y	y	splicing	SERPINB3(NM_006919:exon6:c.352-2A>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.352-2A>G;ENST00000332821:exon6:c.352-2A>G)	.	.	0.999978018120368	0.864
18	61325866	T	G	18	63658632	y	y	splicing	SERPINB3(NM_006919:exon6:c.352-2A>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon6:c.352-2A>C;ENST00000332821:exon6:c.352-2A>C)	.	.	0.99998202647576	0.866
18	61325867	T	A	18	63658633	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.93179025155497E-4	0.024
18	61325867	T	C	18	63658633	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.469533274248554	0.434
18	61325867	T	G	18	63658633	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00185121577572344	0.226
18	61325868	T	A	18	63658634	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.74317262120151E-5	0.0
18	61325868	T	C	18	63658634	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.35199612497398E-4	0.03
18	61325868	T	G	18	63658634	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.01202993373858E-4	0.016
18	61325869	G	A	18	63658635	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.298624758597E-5	0.0
18	61325869	G	C	18	63658635	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.86686484117464E-4	0.116
18	61325869	G	T	18	63658635	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.60712385618194E-4	0.072
18	61325870	A	C	18	63658636	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.160026067030825	0.428
18	61325870	A	G	18	63658636	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.35126395520178E-4	0.016
18	61325870	A	T	18	63658636	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0464283154726199	0.318
18	61325871	G	A	18	63658637	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.20533534849059E-5	0.0
18	61325871	G	C	18	63658637	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.12137127865926E-4	0.178
18	61325871	G	T	18	63658637	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.94655224265401E-4	0.102
18	61325872	A	C	18	63658638	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999831169818332	0.96
18	61325872	A	G	18	63658638	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.75803240182109E-5	0.014
18	61325872	A	T	18	63658638	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00703439369387474	0.302
18	61325873	T	A	18	63658639	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.58645906776164E-5	0.002
18	61325873	T	C	18	63658639	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.50263947084461E-5	0.008
18	61325873	T	G	18	63658639	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.25712051380913E-6	0.0
18	61325874	A	C	18	63658640	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.99920042028389	0.946
18	61325874	A	G	18	63658640	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00117736335856824	0.082
18	61325874	A	T	18	63658640	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0114432051269769	0.304
18	61325875	T	A	18	63658641	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.27219349862041E-5	0.038
18	61325875	T	C	18	63658641	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.46946695164811E-6	0.004
18	61325875	T	G	18	63658641	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.89171835944506E-6	0.002
18	61325876	G	A	18	63658642	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.82245891585566E-5	0.002
18	61325876	G	C	18	63658642	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00313195972931562	0.112
18	61325876	G	T	18	63658642	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00247126214826508	0.098
18	61326625	G	A	18	63659391	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.07357309514239E-5	0.0
18	61326625	G	C	18	63659391	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.9383018987584E-5	0.0
18	61326625	G	T	18	63659391	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.35331940852594E-5	0.0
18	61326626	A	C	18	63659392	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.91098929022478E-4	0.004
18	61326626	A	G	18	63659392	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.18781031341915E-4	0.006
18	61326626	A	T	18	63659392	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.46306100788845E-4	0.006
18	61326627	A	C	18	63659393	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00270940517355209	0.122
18	61326627	A	G	18	63659393	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.145682331454434	0.188
18	61326627	A	T	18	63659393	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.013182901753795	0.1
18	61326628	A	C	18	63659394	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00277109130288447	0.076
18	61326628	A	G	18	63659394	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00733314192949431	0.07
18	61326628	A	T	18	63659394	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00462564229130796	0.028
18	61326629	T	A	18	63659395	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.41238475452631	0.348
18	61326629	T	C	18	63659395	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.829747351025346	0.562
18	61326629	T	G	18	63659395	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.223906886177393	0.308
18	61326630	T	A	18	63659396	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.99817103462727	0.798
18	61326630	T	C	18	63659396	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.17198569156078	0.464
18	61326630	T	G	18	63659396	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.998133885990641	0.778
18	61326631	A	C	18	63659397	y	y	splicing	SERPINB3(NM_006919:exon5:c.351+2T>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.351+2T>G;ENST00000332821:exon5:c.351+2T>G)	.	.	0.999988781533968	0.962
18	61326631	A	G	18	63659397	y	y	splicing	SERPINB3(NM_006919:exon5:c.351+2T>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.351+2T>C;ENST00000332821:exon5:c.351+2T>C)	.	.	0.978109602403056	0.594
18	61326631	A	T	18	63659397	y	y	splicing	SERPINB3(NM_006919:exon5:c.351+2T>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.351+2T>A;ENST00000332821:exon5:c.351+2T>A)	.	.	0.999978986619032	0.962
18	61326632	C	A	18	63659398	y	y	splicing	SERPINB3(NM_006919:exon5:c.351+1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.351+1G>T;ENST00000332821:exon5:c.351+1G>T)	.	.	0.999903621866699	0.874
18	61326632	C	G	18	63659398	y	y	splicing	SERPINB3(NM_006919:exon5:c.351+1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.351+1G>C;ENST00000332821:exon5:c.351+1G>C)	.	.	0.999903621866699	0.89
18	61326632	C	T	18	63659398	y	y	splicing	SERPINB3(NM_006919:exon5:c.351+1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.351+1G>A;ENST00000332821:exon5:c.351+1G>A)	.	.	0.999938221968836	0.906
18	61326633	C	A	18	63659399	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.G351T:p.Q117H;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.G351T:p.Q117H;ENSG00000057149:ENST00000283752:exon4:c.G351T:p.Q117H;	0.999677513447137	0.978
18	61326633	C	G	18	63659399	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.G351C:p.Q117H;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.G351C:p.Q117H;ENSG00000057149:ENST00000283752:exon4:c.G351C:p.Q117H;	0.999908791877755	0.992
18	61326633	C	T	18	63659399	y	y	exonic	SERPINB3	synonymous SNV	SERPINB3:NM_006919:exon4:c.G351A:p.Q117Q;	exonic	ENSG00000057149	synonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.G351A:p.Q117Q;ENSG00000057149:ENST00000283752:exon4:c.G351A:p.Q117Q;	0.997781859505995	0.96
18	61326634	T	A	18	63659400	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.A350T:p.Q117L;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.A350T:p.Q117L;ENSG00000057149:ENST00000283752:exon4:c.A350T:p.Q117L;	0.99915638768698	0.968
18	61326634	T	C	18	63659400	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.A350G:p.Q117R;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.A350G:p.Q117R;ENSG00000057149:ENST00000283752:exon4:c.A350G:p.Q117R;	0.999365636740646	0.97
18	61326634	T	G	18	63659400	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.A350C:p.Q117P;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.A350C:p.Q117P;ENSG00000057149:ENST00000283752:exon4:c.A350C:p.Q117P;	0.971543528406033	0.708
18	61326635	G	A	18	63659401	y	y	exonic	SERPINB3	stopgain SNV	SERPINB3:NM_006919:exon4:c.C349T:p.Q117X;	exonic	ENSG00000057149	stopgain SNV	ENSG00000057149:ENST00000332821:exon4:c.C349T:p.Q117X;ENSG00000057149:ENST00000283752:exon4:c.C349T:p.Q117X;	0.0122019622134231	0.202
18	61326635	G	C	18	63659401	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.C349G:p.Q117E;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.C349G:p.Q117E;ENSG00000057149:ENST00000283752:exon4:c.C349G:p.Q117E;	1.12873157587158E-4	0.04
18	61326635	G	T	18	63659401	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.C349A:p.Q117K;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.C349A:p.Q117K;ENSG00000057149:ENST00000283752:exon4:c.C349A:p.Q117K;	5.33074388268534E-5	0.062
18	61326760	A	C	18	63659526	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.T224G:p.V75G;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.T224G:p.V75G;ENSG00000057149:ENST00000283752:exon4:c.T224G:p.V75G;	9.30460317129585E-5	0.024
18	61326760	A	G	18	63659526	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.T224C:p.V75A;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.T224C:p.V75A;ENSG00000057149:ENST00000283752:exon4:c.T224C:p.V75A;	3.34251863480156E-4	0.11
18	61326760	A	T	18	63659526	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.T224A:p.V75D;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.T224A:p.V75D;ENSG00000057149:ENST00000283752:exon4:c.T224A:p.V75D;	2.30848657255156E-4	0.034
18	61326761	C	A	18	63659527	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.G223T:p.V75F;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.G223T:p.V75F;ENSG00000057149:ENST00000283752:exon4:c.G223T:p.V75F;	0.94233658151743	0.818
18	61326761	C	G	18	63659527	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.G223C:p.V75L;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.G223C:p.V75L;ENSG00000057149:ENST00000283752:exon4:c.G223C:p.V75L;	0.0320526837763926	0.418
18	61326761	C	T	18	63659527	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon4:c.G223A:p.V75I;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon4:c.G223A:p.V75I;ENSG00000057149:ENST00000283752:exon4:c.G223A:p.V75I;	0.0200885786054257	0.242
18	61326762	C	A	18	63659528	y	y	splicing	SERPINB3(NM_006919:exon5:c.223-1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.223-1G>T;ENST00000332821:exon5:c.223-1G>T)	.	.	0.999962958601995	0.796
18	61326762	C	G	18	63659528	y	y	splicing	SERPINB3(NM_006919:exon5:c.223-1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.223-1G>C;ENST00000332821:exon5:c.223-1G>C)	.	.	0.999980255680118	0.79
18	61326762	C	T	18	63659528	y	y	splicing	SERPINB3(NM_006919:exon5:c.223-1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.223-1G>A;ENST00000332821:exon5:c.223-1G>A)	.	.	0.999962958601995	0.802
18	61326763	T	A	18	63659529	y	y	splicing	SERPINB3(NM_006919:exon5:c.223-2A>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.223-2A>T;ENST00000332821:exon5:c.223-2A>T)	.	.	0.999990611969007	0.894
18	61326763	T	C	18	63659529	y	y	splicing	SERPINB3(NM_006919:exon5:c.223-2A>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.223-2A>G;ENST00000332821:exon5:c.223-2A>G)	.	.	0.999985730311967	0.88
18	61326763	T	G	18	63659529	y	y	splicing	SERPINB3(NM_006919:exon5:c.223-2A>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon5:c.223-2A>C;ENST00000332821:exon5:c.223-2A>C)	.	.	0.999985730311967	0.882
18	61326764	T	A	18	63659530	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00245624416712892	0.006
18	61326764	T	C	18	63659530	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.379079327659509	0.49
18	61326764	T	G	18	63659530	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00245005507109965	0.076
18	61326765	C	A	18	63659531	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.07776704422538E-5	0.008
18	61326765	C	G	18	63659531	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.00068649262223E-5	0.0
18	61326765	C	T	18	63659531	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.27731540896939E-5	0.0
18	61326766	A	C	18	63659532	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.904283427188053	0.498
18	61326766	A	G	18	63659532	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.27701762325733E-4	0.064
18	61326766	A	T	18	63659532	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999547494345229	0.942
18	61326767	A	C	18	63659533	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.091664309952733	0.266
18	61326767	A	G	18	63659533	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.20766296876775E-4	0.012
18	61326767	A	T	18	63659533	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.32701464110422	0.31
18	61326768	A	C	18	63659534	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.909369613422414	0.496
18	61326768	A	G	18	63659534	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.94466964000651E-4	0.058
18	61326768	A	T	18	63659534	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.846764125272231	0.496
18	61326769	C	A	18	63659535	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.31378247454735E-5	0.0
18	61326769	C	G	18	63659535	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.31378247454735E-5	0.0
18	61326769	C	T	18	63659535	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.94502362735866E-5	0.004
18	61326770	A	C	18	63659536	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.966599962407076	0.648
18	61326770	A	G	18	63659536	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.09961248427797E-5	0.0
18	61326770	A	T	18	63659536	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.97555181028888	0.666
18	61326771	T	A	18	63659537	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.69136752087375E-4	0.032
18	61326771	T	C	18	63659537	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.12514119798651E-4	0.008
18	61326771	T	G	18	63659537	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.93619510000291E-4	0.006
18	61326772	C	A	18	63659538	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.30965530933525E-4	0.106
18	61326772	C	G	18	63659538	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.1391500295181E-5	0.0
18	61326772	C	T	18	63659538	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.64584194828639E-4	0.058
18	61326773	A	C	18	63659539	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0411736524774208	0.37
18	61326773	A	G	18	63659539	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.56715795868398E-4	0.018
18	61326773	A	T	18	63659539	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999926085129881	0.986
18	61328026	T	A	18	63660792	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.49601982765189E-5	0.01
18	61328026	T	C	18	63660792	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.64182404500159E-5	0.004
18	61328026	T	G	18	63660792	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.64182404500159E-5	0.004
18	61328027	G	A	18	63660793	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.22228600302734E-4	0.018
18	61328027	G	C	18	63660793	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.43345496663374E-5	0.002
18	61328027	G	T	18	63660793	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.78974181597202E-5	0.002
18	61328028	A	C	18	63660794	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.064803683193576	0.154
18	61328028	A	G	18	63660794	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.086135078036278	0.354
18	61328028	A	T	18	63660794	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.218895456538475	0.464
18	61328029	C	A	18	63660795	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999964171894202	0.95
18	61328029	C	G	18	63660795	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999208946765654	0.832
18	61328029	C	T	18	63660795	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999943897670533	0.948
18	61328030	T	A	18	63660796	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.998104974125129	0.864
18	61328030	T	C	18	63660796	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.990311919248175	0.862
18	61328030	T	G	18	63660796	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.97561462549308	0.754
18	61328031	C	A	18	63660797	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.998317825122387	0.718
18	61328031	C	G	18	63660797	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.990684511018868	0.744
18	61328031	C	T	18	63660797	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.92868983583322E-5	0.002
18	61328032	A	C	18	63660798	y	y	splicing	SERPINB3(NM_006919:exon4:c.222+2T>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.222+2T>G;ENST00000332821:exon4:c.222+2T>G)	.	.	0.999989614548265	0.742
18	61328032	A	G	18	63660798	y	y	splicing	SERPINB3(NM_006919:exon4:c.222+2T>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.222+2T>C;ENST00000332821:exon4:c.222+2T>C)	.	.	0.99962318312822	0.67
18	61328032	A	T	18	63660798	y	y	splicing	SERPINB3(NM_006919:exon4:c.222+2T>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.222+2T>A;ENST00000332821:exon4:c.222+2T>A)	.	.	0.999989614548265	0.776
18	61328033	C	A	18	63660799	y	y	splicing	SERPINB3(NM_006919:exon4:c.222+1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.222+1G>T;ENST00000332821:exon4:c.222+1G>T)	.	.	0.999984399620937	0.754
18	61328033	C	G	18	63660799	y	y	splicing	SERPINB3(NM_006919:exon4:c.222+1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.222+1G>C;ENST00000332821:exon4:c.222+1G>C)	.	.	0.999989378869813	0.754
18	61328033	C	T	18	63660799	y	y	splicing	SERPINB3(NM_006919:exon4:c.222+1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.222+1G>A;ENST00000332821:exon4:c.222+1G>A)	.	.	0.999980255680118	0.736
18	61328034	A	C	18	63660800	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.T222G:p.H74Q;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.T222G:p.H74Q;ENSG00000057149:ENST00000283752:exon3:c.T222G:p.H74Q;	2.1416022240781E-5	0.06
18	61328034	A	G	18	63660800	y	y	exonic	SERPINB3	synonymous SNV	SERPINB3:NM_006919:exon3:c.T222C:p.H74H;	exonic	ENSG00000057149	synonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.T222C:p.H74H;ENSG00000057149:ENST00000283752:exon3:c.T222C:p.H74H;	1.47147931056739E-5	0.0
18	61328034	A	T	18	63660800	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.T222A:p.H74Q;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.T222A:p.H74Q;ENSG00000057149:ENST00000283752:exon3:c.T222A:p.H74Q;	1.29109471163015E-5	0.022
18	61328035	T	A	18	63660801	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.A221T:p.H74L;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.A221T:p.H74L;ENSG00000057149:ENST00000283752:exon3:c.A221T:p.H74L;	0.468033669106721	0.69
18	61328035	T	C	18	63660801	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.A221G:p.H74R;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.A221G:p.H74R;ENSG00000057149:ENST00000283752:exon3:c.A221G:p.H74R;	0.0980598576032401	0.484
18	61328035	T	G	18	63660801	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.A221C:p.H74P;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.A221C:p.H74P;ENSG00000057149:ENST00000283752:exon3:c.A221C:p.H74P;	0.20119176084746	0.612
18	61328036	G	A	18	63660802	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.C220T:p.H74Y;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.C220T:p.H74Y;ENSG00000057149:ENST00000283752:exon3:c.C220T:p.H74Y;	0.0827864567147392	0.324
18	61328036	G	C	18	63660802	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.C220G:p.H74D;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.C220G:p.H74D;ENSG00000057149:ENST00000283752:exon3:c.C220G:p.H74D;	7.27706412283727E-5	0.012
18	61328036	G	T	18	63660802	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.C220A:p.H74N;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.C220A:p.H74N;ENSG00000057149:ENST00000283752:exon3:c.C220A:p.H74N;	2.23045325414521E-5	0.022
18	61328089	A	C	18	63660855	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.T167G:p.V56G;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.T167G:p.V56G;ENSG00000057149:ENST00000283752:exon3:c.T167G:p.V56G;	9.05065655903041E-4	0.064
18	61328089	A	G	18	63660855	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.T167C:p.V56A;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.T167C:p.V56A;ENSG00000057149:ENST00000283752:exon3:c.T167C:p.V56A;	0.00118538668453022	0.082
18	61328089	A	T	18	63660855	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.T167A:p.V56D;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.T167A:p.V56D;ENSG00000057149:ENST00000283752:exon3:c.T167A:p.V56D;	4.44209190933774E-4	0.144
18	61328090	C	A	18	63660856	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.G166T:p.V56F;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.G166T:p.V56F;ENSG00000057149:ENST00000283752:exon3:c.G166T:p.V56F;	0.630211234738424	0.548
18	61328090	C	G	18	63660856	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.G166C:p.V56L;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.G166C:p.V56L;ENSG00000057149:ENST00000283752:exon3:c.G166C:p.V56L;	0.552320925130746	0.562
18	61328090	C	T	18	63660856	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon3:c.G166A:p.V56I;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon3:c.G166A:p.V56I;ENSG00000057149:ENST00000283752:exon3:c.G166A:p.V56I;	0.0332833981759037	0.174
18	61328091	C	A	18	63660857	y	y	splicing	SERPINB3(NM_006919:exon4:c.166-1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.166-1G>T;ENST00000332821:exon4:c.166-1G>T)	.	.	0.999941977319723	0.774
18	61328091	C	G	18	63660857	y	y	splicing	SERPINB3(NM_006919:exon4:c.166-1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.166-1G>C;ENST00000332821:exon4:c.166-1G>C)	.	.	0.999941977319723	0.774
18	61328091	C	T	18	63660857	y	y	splicing	SERPINB3(NM_006919:exon4:c.166-1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.166-1G>A;ENST00000332821:exon4:c.166-1G>A)	.	.	0.999941977319723	0.774
18	61328092	T	A	18	63660858	y	y	splicing	SERPINB3(NM_006919:exon4:c.166-2A>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.166-2A>T;ENST00000332821:exon4:c.166-2A>T)	.	.	0.999989614548265	0.766
18	61328092	T	C	18	63660858	y	y	splicing	SERPINB3(NM_006919:exon4:c.166-2A>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.166-2A>G;ENST00000332821:exon4:c.166-2A>G)	.	.	0.999991794264552	0.748
18	61328092	T	G	18	63660858	y	y	splicing	SERPINB3(NM_006919:exon4:c.166-2A>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon4:c.166-2A>C;ENST00000332821:exon4:c.166-2A>C)	.	.	0.999991794264552	0.75
18	61328093	G	A	18	63660859	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.12430427131029E-4	0.078
18	61328093	G	C	18	63660859	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.990946516497134	0.922
18	61328093	G	T	18	63660859	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.151513438726479	0.464
18	61328094	G	A	18	63660860	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.07052976078094E-5	0.0
18	61328094	G	C	18	63660860	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.07052976078094E-5	0.0
18	61328094	G	T	18	63660860	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.07052976078094E-5	0.0
18	61328095	A	C	18	63660861	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.398570345159388	0.384
18	61328095	A	G	18	63660861	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.27421744025546E-4	0.032
18	61328095	A	T	18	63660861	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.406874069608201	0.346
18	61328096	A	C	18	63660862	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.478199816662537	0.378
18	61328096	A	G	18	63660862	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.6488191386173E-4	0.01
18	61328096	A	T	18	63660862	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.197539567720601	0.288
18	61328097	G	A	18	63660863	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.65981930521475E-5	0.0
18	61328097	G	C	18	63660863	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.13796632135245E-4	0.052
18	61328097	G	T	18	63660863	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00117438651103972	0.074
18	61328098	A	C	18	63660864	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0569533557124611	0.248
18	61328098	A	G	18	63660864	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00133778834670033	0.066
18	61328098	A	T	18	63660864	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.612816743972729	0.314
18	61328099	G	A	18	63660865	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.44238481087935E-5	0.008
18	61328099	G	C	18	63660865	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.35420232646407E-4	0.026
18	61328099	G	T	18	63660865	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.58477621868154E-4	0.022
18	61328100	A	C	18	63660866	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.55692767548122	0.56
18	61328100	A	G	18	63660866	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.001667577777907	0.046
18	61328100	A	T	18	63660866	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.953815150522342	0.622
18	61328101	C	A	18	63660867	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.04737572979891E-5	0.0
18	61328101	C	G	18	63660867	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.47134931630334E-5	0.0
18	61328101	C	T	18	63660867	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.26609155353103E-5	0.0
18	61328102	A	C	18	63660868	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.743732641791682	0.788
18	61328102	A	G	18	63660868	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	8.72128711252E-5	0.0
18	61328102	A	T	18	63660868	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.917557890755822	0.808
18	61328278	A	C	18	63661044	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.4703346396834E-4	0.014
18	61328278	A	G	18	63661044	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.2608457862601E-4	0.002
18	61328278	A	T	18	63661044	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.49455611697374E-4	0.0
18	61328279	T	A	18	63661045	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.99247306667987E-4	0.0
18	61328279	T	C	18	63661045	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.28044627735784E-5	0.0
18	61328279	T	G	18	63661045	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.22660495981372E-5	0.0
18	61328280	A	C	18	63661046	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00330711347600097	0.146
18	61328280	A	G	18	63661046	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0417881646469515	0.28
18	61328280	A	T	18	63661046	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.036639531906145	0.142
18	61328281	G	A	18	63661047	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.64844546791712E-4	0.004
18	61328281	G	C	18	63661047	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.64020027839555E-5	0.016
18	61328281	G	T	18	63661047	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.95071366520781E-5	0.004
18	61328282	C	A	18	63661048	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.01629126296311E-5	0.0
18	61328282	C	G	18	63661048	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.75140660569731E-5	0.016
18	61328282	C	T	18	63661048	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	4.47678520141501E-5	0.018
18	61328283	T	A	18	63661049	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999968115460674	0.95
18	61328283	T	C	18	63661049	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.914307995124451	0.636
18	61328283	T	G	18	63661049	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999946192858941	0.91
18	61328284	A	C	18	63661050	y	y	splicing	SERPINB3(NM_006919:exon3:c.165+2T>G)	.	.	splicing	ENSG00000057149(ENST00000283752:exon3:c.165+2T>G;ENST00000332821:exon3:c.165+2T>G)	.	.	0.999980535492709	0.748
18	61328284	A	G	18	63661050	y	y	splicing	SERPINB3(NM_006919:exon3:c.165+2T>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon3:c.165+2T>C;ENST00000332821:exon3:c.165+2T>C)	.	.	0.911275967276885	0.526
18	61328284	A	T	18	63661050	y	y	splicing	SERPINB3(NM_006919:exon3:c.165+2T>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon3:c.165+2T>A;ENST00000332821:exon3:c.165+2T>A)	.	.	0.999976374996771	0.744
18	61328285	C	A	18	63661051	y	y	splicing	SERPINB3(NM_006919:exon3:c.165+1G>T)	.	.	splicing	ENSG00000057149(ENST00000283752:exon3:c.165+1G>T;ENST00000332821:exon3:c.165+1G>T)	.	.	0.999969255906173	0.86
18	61328285	C	G	18	63661051	y	y	splicing	SERPINB3(NM_006919:exon3:c.165+1G>C)	.	.	splicing	ENSG00000057149(ENST00000283752:exon3:c.165+1G>C;ENST00000332821:exon3:c.165+1G>C)	.	.	0.999969255906173	0.846
18	61328285	C	T	18	63661051	y	y	splicing	SERPINB3(NM_006919:exon3:c.165+1G>A)	.	.	splicing	ENSG00000057149(ENST00000283752:exon3:c.165+1G>A;ENST00000332821:exon3:c.165+1G>A)	.	.	0.999969255906173	0.852
18	61328286	C	A	18	63661052	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.G165T:p.K55N;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon2:c.G165T:p.K55N;ENSG00000057149:ENST00000283752:exon2:c.G165T:p.K55N;	0.999945909448956	0.946
18	61328286	C	G	18	63661052	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.G165C:p.K55N;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon2:c.G165C:p.K55N;ENSG00000057149:ENST00000283752:exon2:c.G165C:p.K55N;	0.999987308167981	0.956
18	61328286	C	T	18	63661052	y	y	exonic	SERPINB3	synonymous SNV	SERPINB3:NM_006919:exon2:c.G165A:p.K55K;	exonic	ENSG00000057149	synonymous SNV	ENSG00000057149:ENST00000332821:exon2:c.G165A:p.K55K;ENSG00000057149:ENST00000283752:exon2:c.G165A:p.K55K;	0.999988757178246	0.988
18	61328287	T	A	18	63661053	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.A164T:p.K55M;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon2:c.A164T:p.K55M;ENSG00000057149:ENST00000283752:exon2:c.A164T:p.K55M;	0.999957637183454	0.984
18	61328287	T	C	18	63661053	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.A164G:p.K55R;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon2:c.A164G:p.K55R;ENSG00000057149:ENST00000283752:exon2:c.A164G:p.K55R;	0.999960332937974	0.972
18	61328287	T	G	18	63661053	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.A164C:p.K55T;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon2:c.A164C:p.K55T;ENSG00000057149:ENST00000283752:exon2:c.A164C:p.K55T;	0.999853771945562	0.984
18	61328288	T	A	18	63661054	y	y	exonic	SERPINB3	stopgain SNV	SERPINB3:NM_006919:exon2:c.A163T:p.K55X;	exonic	ENSG00000057149	stopgain SNV	ENSG00000057149:ENST00000332821:exon2:c.A163T:p.K55X;ENSG00000057149:ENST00000283752:exon2:c.A163T:p.K55X;	0.916695742273526	0.684
18	61328288	T	C	18	63661054	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.A163G:p.K55E;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon2:c.A163G:p.K55E;ENSG00000057149:ENST00000283752:exon2:c.A163G:p.K55E;	0.00255585745482068	0.03
18	61328288	T	G	18	63661054	y	y	exonic	SERPINB3	nonsynonymous SNV	SERPINB3:NM_006919:exon2:c.A163C:p.K55Q;	exonic	ENSG00000057149	nonsynonymous SNV	ENSG00000057149:ENST00000332821:exon2:c.A163C:p.K55Q;ENSG00000057149:ENST00000283752:exon2:c.A163C:p.K55Q;	0.00151945691452022	0.014
18	61328475	T	A	18	63661241	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.0288031983934135	0.296
18	61328475	T	C	18	63661241	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.0133620307116848	0.086
18	61328475	T	G	18	63661241	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.0353714759748227	0.152
18	61328476	C	A	18	63661242	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.741739012667671	0.672
18	61328476	C	G	18	63661242	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.184015624530594	0.638
18	61328476	C	T	18	63661242	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.0136201309230957	0.216
18	61328477	C	A	18	63661243	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999992076683048	0.928
18	61328477	C	G	18	63661243	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999992076683048	0.928
18	61328477	C	T	18	63661243	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999992076683048	0.928
18	61328478	T	A	18	63661244	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999995027806847	0.932
18	61328478	T	C	18	63661244	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999995027806847	0.932
18	61328478	T	G	18	63661244	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999995027806847	0.932
18	61328479	G	A	18	63661245	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00267968413055404	0.062
18	61328479	G	C	18	63661245	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.998742637591041	0.918
18	61328479	G	T	18	63661245	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.951289937567686	0.68
18	61328480	G	A	18	63661246	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.32530111334111E-5	0.022
18	61328480	G	C	18	63661246	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.63995218466699E-4	0.024
18	61328480	G	T	18	63661246	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.37988105716605E-5	0.024
18	61328481	A	C	18	63661247	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.906457634580727	0.572
18	61328481	A	G	18	63661247	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00361150122722707	0.098
18	61328481	A	T	18	63661247	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.883390846133313	0.56
18	61328482	A	C	18	63661248	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.996857027794766	0.894
18	61328482	A	G	18	63661248	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00873266749099523	0.238
18	61328482	A	T	18	63661248	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.996429200355236	0.852
18	61328483	A	C	18	63661249	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0153165709933136	0.232
18	61328483	A	G	18	63661249	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.65967016382036E-5	0.04
18	61328483	A	T	18	63661249	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.801887389346899	0.588
18	61328484	A	C	18	63661250	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.753232327107241	0.436
18	61328484	A	G	18	63661250	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.0028651107169225	0.052
18	61328484	A	T	18	63661250	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.844268195227928	0.618
18	61328485	G	A	18	63661251	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.45496122247245E-6	0.028
18	61328485	G	C	18	63661251	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.16371671661834E-5	0.122
18	61328485	G	T	18	63661251	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.69392495743058E-4	0.136
18	61328486	C	A	18	63661252	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.50268415671453E-5	0.058
18	61328486	C	G	18	63661252	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.50268415671453E-5	0.056
18	61328486	C	T	18	63661252	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.74171435153982E-5	0.068
18	61328487	A	C	18	63661253	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999980641801866	0.922
18	61328487	A	G	18	63661253	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00382400217251253	0.246
18	61328487	A	T	18	63661253	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.999980641801866	0.926
18	61328488	T	A	18	63661254	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	5.47127381462919E-5	0.03
18	61328488	T	C	18	63661254	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	7.31932716499476E-5	0.016
18	61328488	T	G	18	63661254	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.60606584995091E-5	0.004
18	61329072	G	A	18	63661838	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.17888537693626E-4	0.002
18	61329072	G	C	18	63661838	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	6.48628244019235E-5	0.004
18	61329072	G	T	18	63661838	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	1.17888537693626E-4	0.004
18	61329073	C	A	18	63661839	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.70790675364405E-5	0.0
18	61329073	C	G	18	63661839	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.58839885524609E-5	0.0
18	61329073	C	T	18	63661839	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	3.58839885524609E-5	0.004
18	61329074	T	A	18	63661840	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.23079100050796E-5	0.0
18	61329074	T	C	18	63661840	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	2.28602784501507E-5	0.09
18	61329074	T	G	18	63661840	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	9.7015030599678E-5	0.17
18	61329075	C	A	18	63661841	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.878325815986201	0.574
18	61329075	C	G	18	63661841	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.903037336627119	0.61
18	61329075	C	T	18	63661841	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.881194890863275	0.624
18	61329076	T	A	18	63661842	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.83683509321271	0.534
18	61329076	T	C	18	63661842	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.768229107281361	0.472
18	61329076	T	G	18	63661842	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.754504746873458	0.574
18	61329077	T	A	18	63661843	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.652031489036559	0.546
18	61329077	T	C	18	63661843	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.00105102944228172	0.042
18	61329077	T	G	18	63661843	y	y	intronic	SERPINB3	.	.	intronic	ENSG00000057149	.	.	0.582644098565673	0.482
18	61329078	A	C	18	63661844	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.99998382861657	0.848
18	61329078	A	G	18	63661844	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.965282665966577	0.53
18	61329078	A	T	18	63661844	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.99998382861657	0.87
18	61329079	C	A	18	63661845	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999969255906173	0.844
18	61329079	C	G	18	63661845	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999969712949741	0.842
18	61329079	C	T	18	63661845	y	y	splicing	SERPINB3	.	.	splicing	ENSG00000057149	.	.	0.999969255906173	0.862
18	61329080	C	A	18	63661846	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.967761692641521	0.79
18	61329080	C	G	18	63661846	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.963550515523014	0.69
18	61329080	C	T	18	63661846	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.803721010526459	0.602
18	61329081	T	A	18	63661847	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.351847701449072	0.394
18	61329081	T	C	18	63661847	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.307493347827765	0.302
18	61329081	T	G	18	63661847	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.530044183382826	0.478
18	61329082	G	A	18	63661848	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.0100439795311286	0.13
18	61329082	G	C	18	63661848	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	4.32883714979076E-4	0.02
18	61329082	G	T	18	63661848	y	y	UTR5	SERPINB3	.	.	UTR5	ENSG00000057149	.	.	0.00135868762729352	0.018
18	61369609	G	A	18	63702375	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	3.78864525412067E-5	0.0
18	61369609	G	C	18	63702375	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	2.45277156108894E-5	0.0
18	61369609	G	T	18	63702375	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	3.78864525412067E-5	0.0
18	61369610	A	C	18	63702376	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	6.7395485643605E-5	0.008
18	61369610	A	G	18	63702376	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	6.7395485643605E-5	0.008
18	61369610	A	T	18	63702376	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	6.7395485643605E-5	0.006
18	61369611	G	A	18	63702377	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369611	G	C	18	63702377	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369611	G	T	18	63702377	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369612	G	A	18	63702378	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369612	G	C	18	63702378	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	1.08378557604853E-5	0.0
18	61369612	G	T	18	63702378	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	1.08378557604853E-5	0.0
18	61369613	T	A	18	63702379	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	2.62951115444098E-5	0.0
18	61369613	T	C	18	63702379	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	2.62951115444098E-5	0.0
18	61369613	T	G	18	63702379	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	2.62951115444098E-5	0.0
18	61369614	C	A	18	63702380	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369614	C	G	18	63702380	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.08378557604853E-5	0.002
18	61369614	C	T	18	63702380	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369615	A	C	18	63702381	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.63141535133926E-5	0.0
18	61369615	A	G	18	63702381	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.63141535133926E-5	0.0
18	61369615	A	T	18	63702381	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.83935518155002E-5	0.0
18	61369616	G	A	18	63702382	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369616	G	C	18	63702382	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.08378557604853E-5	0.0
18	61369616	G	T	18	63702382	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.02
18	61369617	G	A	18	63702383	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369617	G	C	18	63702383	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.08378557604853E-5	0.0
18	61369617	G	T	18	63702383	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369618	A	C	18	63702384	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.63141535133926E-5	0.0
18	61369618	A	G	18	63702384	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.63141535133926E-5	0.0
18	61369618	A	T	18	63702384	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.83935518155002E-5	0.004
18	61369619	G	A	18	63702385	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369619	G	C	18	63702385	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61369619	G	T	18	63702385	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.67406935090243E-5	0.0
18	61370073	C	A	18	63702839	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.52159304237333E-5	0.038
18	61370073	C	G	18	63702839	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.52159304237333E-5	0.014
18	61370073	C	T	18	63702839	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.87698428322107E-5	0.008
18	61370074	T	A	18	63702840	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.45170072801036E-5	0.008
18	61370074	T	C	18	63702840	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.45170072801036E-5	0.008
18	61370074	T	G	18	63702840	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.45170072801036E-5	0.008
18	61370075	T	A	18	63702841	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.12261273777789E-4	0.002
18	61370075	T	C	18	63702841	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.64928256872287E-4	0.004
18	61370075	T	G	18	63702841	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.12261273777789E-4	0.002
18	61370076	C	A	18	63702842	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.26105711088663E-4	0.026
18	61370076	C	G	18	63702842	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.26105711088663E-4	0.026
18	61370076	C	T	18	63702842	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.26058729013815E-4	0.026
18	61370077	A	C	18	63702843	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.42220231723138E-4	0.028
18	61370077	A	G	18	63702843	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.42220231723138E-4	0.028
18	61370077	A	T	18	63702843	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.92878516506046E-5	0.028
18	61370078	T	A	18	63702844	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.79361714119416E-4	0.002
18	61370078	T	C	18	63702844	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.79361714119416E-4	0.002
18	61370078	T	G	18	63702844	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.79361714119416E-4	0.002
18	61370079	T	A	18	63702845	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.80465223468383E-5	0.004
18	61370079	T	C	18	63702845	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.80465223468383E-5	0.004
18	61370079	T	G	18	63702845	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.80465223468383E-5	0.004
18	61370080	T	A	18	63702846	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.33434928262369E-5	0.022
18	61370080	T	C	18	63702846	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.80754541994118E-5	0.05
18	61370080	T	G	18	63702846	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.80754541994118E-5	0.05
18	61370081	T	A	18	63702847	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.79361714119416E-4	0.004
18	61370081	T	C	18	63702847	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.79361714119416E-4	0.004
18	61370081	T	G	18	63702847	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.79361714119416E-4	0.004
18	61370082	C	A	18	63702848	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.26424982550682E-5	0.0
18	61370082	C	G	18	63702848	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.26424982550682E-5	0.0
18	61370082	C	T	18	63702848	n	y	upstream	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.26424982550682E-5	0.0
18	61370083	A	C	18	63702849	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	2.79361714119416E-4	0.002
18	61370083	A	G	18	63702849	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	2.79361714119416E-4	0.002
18	61370083	A	T	18	63702849	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	2.85159348457159E-4	0.0
18	61370084	G	A	18	63702850	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.00524585767184195	0.04
18	61370084	G	C	18	63702850	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.00506625539714419	0.052
18	61370084	G	T	18	63702850	n	y	upstream	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.00524585767184195	0.046
18	61370085	G	A	18	63702851	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	4.09828708177445E-5	0.0
18	61370085	G	C	18	63702851	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	3.79815302939872E-5	0.0
18	61370085	G	T	18	63702851	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	3.79815302939872E-5	0.0
18	61370086	G	A	18	63702852	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	7.82685551969961E-5	0.016
18	61370086	G	C	18	63702852	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	7.82685551969961E-5	0.016
18	61370086	G	T	18	63702852	n	y	upstream	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	7.82685551969961E-5	0.016
18	61370238	A	C	18	63703004	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	1.28811595334782E-5	0.0
18	61370238	A	G	18	63703004	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	2.84583129005984E-5	0.0
18	61370238	A	T	18	63703004	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	2.94549512163843E-4	0.094
18	61370239	A	C	18	63703005	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.0940503458256264	0.414
18	61370239	A	G	18	63703005	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.304165971187781	0.342
18	61370239	A	T	18	63703005	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.371120878214807	0.394
18	61370240	G	A	18	63703006	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.944214210431687	0.874
18	61370240	G	C	18	63703006	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.99588410571158	0.644
18	61370240	G	T	18	63703006	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.998405389723659	0.844
18	61370241	G	A	18	63703007	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999990123758928	0.764
18	61370241	G	C	18	63703007	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999990123758928	0.746
18	61370241	G	T	18	63703007	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999990123758928	0.758
18	61370242	T	A	18	63703008	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999984399620937	0.74
18	61370242	T	C	18	63703008	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.931249393089132	0.502
18	61370242	T	G	18	63703008	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999989378869813	0.754
18	61370243	A	C	18	63703009	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.913735883468926	0.626
18	61370243	A	G	18	63703009	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0607042559438266	0.266
18	61370243	A	T	18	63703009	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.968902321739471	0.636
18	61370244	A	C	18	63703010	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.299324842927689	0.498
18	61370244	A	G	18	63703010	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.640376472626739	0.41
18	61370244	A	T	18	63703010	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.356854439893857	0.526
18	61370245	G	A	18	63703011	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.813699711411239	0.552
18	61370245	G	C	18	63703011	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.596073693616626	0.532
18	61370245	G	T	18	63703011	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.565063889654612	0.512
18	61370246	A	C	18	63703012	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.22112301096545E-5	0.008
18	61370246	A	G	18	63703012	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.18022587115148E-5	0.004
18	61370246	A	T	18	63703012	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.07654204418607E-6	0.0
18	61370247	G	A	18	63703013	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.53929084429736E-6	0.002
18	61370247	G	C	18	63703013	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.09421806349221E-6	0.0
18	61370247	G	T	18	63703013	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.69177721542944E-5	0.01
18	61370248	A	C	18	63703014	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.88952632395741E-6	0.006
18	61370248	A	G	18	63703014	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.70779689740647E-5	0.008
18	61370248	A	T	18	63703014	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.09977397834503E-5	0.004
18	61377401	T	A	18	63710167	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00281724463510273	0.17
18	61377401	T	C	18	63710167	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.40962197881387E-4	0.014
18	61377401	T	G	18	63710167	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00231507507727174	0.138
18	61377402	T	A	18	63710168	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00360748754595958	0.25
18	61377402	T	C	18	63710168	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.52160160445013E-4	0.068
18	61377402	T	G	18	63710168	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00253758607410396	0.212
18	61377403	C	A	18	63710169	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00424901539839958	0.136
18	61377403	C	G	18	63710169	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00114614273239952	0.064
18	61377403	C	T	18	63710169	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.65226439994638E-4	0.006
18	61377404	T	A	18	63710170	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999155152770671	0.922
18	61377404	T	C	18	63710170	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.57292139555029E-4	0.01
18	61377404	T	G	18	63710170	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00167194916656902	0.066
18	61377405	G	A	18	63710171	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.79648286157686E-4	0.022
18	61377405	G	C	18	63710171	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.12257896462109E-5	0.004
18	61377405	G	T	18	63710171	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.11708601943418E-5	0.002
18	61377406	T	A	18	63710172	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0100644525067813	0.138
18	61377406	T	C	18	63710172	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.35109459644405E-4	0.008
18	61377406	T	G	18	63710172	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00577828877589781	0.158
18	61377407	T	A	18	63710173	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00155335566856092	0.088
18	61377407	T	C	18	63710173	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.76874734190523E-5	0.0
18	61377407	T	G	18	63710173	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00132134321877883	0.06
18	61377408	C	A	18	63710174	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00410730221589608	0.092
18	61377408	C	G	18	63710174	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0142392391920259	0.144
18	61377408	C	T	18	63710174	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.22161334810467E-4	0.002
18	61377409	T	A	18	63710175	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.85499976329116E-5	0.002
18	61377409	T	C	18	63710175	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.56447317629163E-5	0.0
18	61377409	T	G	18	63710175	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.83454885143174E-5	0.002
18	61377410	C	A	18	63710176	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.600526079123271	0.51
18	61377410	C	G	18	63710176	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999823802453132	0.968
18	61377410	C	T	18	63710176	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.01900296374863	0.034
18	61377411	A	C	18	63710177	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999989917668626	0.926
18	61377411	A	G	18	63710177	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999989917668626	0.926
18	61377411	A	T	18	63710177	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999989917668626	0.926
18	61377412	G	A	18	63710178	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999930329503934	0.924
18	61377412	G	C	18	63710178	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999930329503934	0.928
18	61377412	G	T	18	63710178	y	y	splicing	SERPINB11	.	.	splicing	ENSG00000206072	.	.	0.999930329503934	0.918
18	61377413	G	A	18	63710179	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.257642338905116	0.458
18	61377413	G	C	18	63710179	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.412253469151282	0.558
18	61377413	G	T	18	63710179	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	0.677951395513708	0.644
18	61377414	C	A	18	63710180	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	5.24904668848351E-5	0.0
18	61377414	C	G	18	63710180	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	9.93071838378601E-5	0.014
18	61377414	C	T	18	63710180	y	y	UTR5	SERPINB11	.	.	UTR5	ENSG00000206072	.	.	6.13868110773072E-5	0.006
18	61377593	A	C	18	63710359	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon2:c.A166C:p.K56Q;	2.27819166096928E-4	0.0
18	61377593	A	G	18	63710359	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon2:c.A166G:p.K56E;	0.00798569716399905	0.06
18	61377593	A	T	18	63710359	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	stopgain SNV	ENSG00000206072:ENST00000538847:exon2:c.A166T:p.K56X;	0.853709030022627	0.518
18	61377594	A	C	18	63710360	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon2:c.A167C:p.K56T;	0.99818764757188	0.956
18	61377594	A	G	18	63710360	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon2:c.A167G:p.K56R;	0.999587102970854	0.996
18	61377594	A	T	18	63710360	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon2:c.A167T:p.K56M;	0.999002580598541	0.994
18	61377595	G	A	18	63710361	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	synonymous SNV	ENSG00000206072:ENST00000538847:exon2:c.G168A:p.K56K;	0.997564372695009	0.934
18	61377595	G	C	18	63710361	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon2:c.G168C:p.K56N;	0.999949333958855	0.976
18	61377595	G	T	18	63710361	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon2:c.G168T:p.K56N;	0.999814021232997	0.936
18	61377596	G	A	18	63710362	y	y	splicing	SERPINB11(NM_080475:exon2:c.168+1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon3:c.168+1G>A;ENST00000538847:exon2:c.168+1G>A;ENST00000544088:exon2:c.168+1G>A)	.	.	0.999956785519844	0.84
18	61377596	G	C	18	63710362	y	y	splicing	SERPINB11(NM_080475:exon2:c.168+1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon3:c.168+1G>C;ENST00000538847:exon2:c.168+1G>C;ENST00000544088:exon2:c.168+1G>C)	.	.	0.999952286258862	0.878
18	61377596	G	T	18	63710362	y	y	splicing	SERPINB11(NM_080475:exon2:c.168+1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon3:c.168+1G>T;ENST00000538847:exon2:c.168+1G>T;ENST00000544088:exon2:c.168+1G>T)	.	.	0.999956785519844	0.886
18	61377597	T	A	18	63710363	y	y	splicing	SERPINB11(NM_080475:exon2:c.168+2T>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon3:c.168+2T>A;ENST00000538847:exon2:c.168+2T>A;ENST00000544088:exon2:c.168+2T>A)	.	.	0.999972155025474	0.848
18	61377597	T	C	18	63710363	y	y	splicing	SERPINB11(NM_080475:exon2:c.168+2T>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon3:c.168+2T>C;ENST00000538847:exon2:c.168+2T>C;ENST00000544088:exon2:c.168+2T>C)	.	.	0.935698656822328	0.556
18	61377597	T	G	18	63710363	y	y	splicing	SERPINB11(NM_080475:exon2:c.168+2T>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon3:c.168+2T>G;ENST00000538847:exon2:c.168+2T>G;ENST00000544088:exon2:c.168+2T>G)	.	.	0.999969255906173	0.858
18	61377598	A	C	18	63710364	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.998880937593286	0.83
18	61377598	A	G	18	63710364	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.985640006093605	0.684
18	61377598	A	T	18	63710364	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.998993932203433	0.822
18	61377599	T	A	18	63710365	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.1346791973152E-5	0.028
18	61377599	T	C	18	63710365	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.51940156360147E-5	0.0
18	61377599	T	G	18	63710365	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.39849688279103E-5	0.04
18	61377600	G	A	18	63710366	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.111264804403481	0.35
18	61377600	G	C	18	63710366	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.57729456836265	0.416
18	61377600	G	T	18	63710366	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.572027226985536	0.402
18	61377601	G	A	18	63710367	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.70277749474202E-4	0.01
18	61377601	G	C	18	63710367	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.80596257884555E-4	0.028
18	61377601	G	T	18	63710367	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.24204435663174E-4	0.004
18	61377602	A	C	18	63710368	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.47062357115775E-4	0.002
18	61377602	A	G	18	63710368	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.22921698973706E-4	0.0
18	61377602	A	T	18	63710368	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.47062357115775E-4	0.016
18	61377603	A	C	18	63710369	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.34600597977734E-4	0.002
18	61377603	A	G	18	63710369	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.51221660652217E-4	0.0
18	61377603	A	T	18	63710369	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.89121992499771E-4	0.0
18	61378557	T	A	18	63711323	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.50265140350268E-5	0.102
18	61378557	T	C	18	63711323	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.38745427040864E-5	0.014
18	61378557	T	G	18	63711323	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.14044611947065E-4	0.134
18	61378558	T	A	18	63711324	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.96951634693242E-5	0.042
18	61378558	T	C	18	63711324	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.14859902601584E-5	0.0
18	61378558	T	G	18	63711324	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.35976388644717E-5	0.068
18	61378559	T	A	18	63711325	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.760976837067E-5	0.056
18	61378559	T	C	18	63711325	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.1255477169944E-5	0.0
18	61378559	T	G	18	63711325	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.40524262172862E-5	0.052
18	61378560	C	A	18	63711326	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.00539446437959E-4	0.022
18	61378560	C	G	18	63711326	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.48118859141747E-5	0.006
18	61378560	C	T	18	63711326	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.52563134350164E-5	0.022
18	61378561	T	A	18	63711327	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.00807095151284E-4	0.01
18	61378561	T	C	18	63711327	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.31151407903997E-5	0.006
18	61378561	T	G	18	63711327	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.85859275021606E-5	0.016
18	61378562	T	A	18	63711328	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.90140024907002E-4	0.024
18	61378562	T	C	18	63711328	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.28608366541997E-5	0.002
18	61378562	T	G	18	63711328	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.00319088243607E-4	0.028
18	61378563	T	A	18	63711329	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.50478292100755E-4	0.026
18	61378563	T	C	18	63711329	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.30192914853268E-5	0.0
18	61378563	T	G	18	63711329	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.4177693782417E-4	0.05
18	61378564	T	A	18	63711330	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.15063560503341E-4	0.174
18	61378564	T	C	18	63711330	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.73144599520736E-5	0.028
18	61378564	T	G	18	63711330	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.03141398126798E-4	0.134
18	61378565	C	A	18	63711331	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.40250873951145E-5	0.024
18	61378565	C	G	18	63711331	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.23099707820902E-5	0.008
18	61378565	C	T	18	63711331	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.66797539989692E-5	0.002
18	61378566	T	A	18	63711332	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.37704827566752E-4	0.024
18	61378566	T	C	18	63711332	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.91491826190896E-5	0.002
18	61378566	T	G	18	63711332	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0464303719701777	0.272
18	61378567	A	C	18	63711333	y	y	splicing	SERPINB11(NM_080475:exon3:c.169-2A>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.169-2A>C;ENST00000544088:exon3:c.169-2A>C)	.	.	0.999984399620937	0.754
18	61378567	A	G	18	63711333	y	y	splicing	SERPINB11(NM_080475:exon3:c.169-2A>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.169-2A>G;ENST00000544088:exon3:c.169-2A>G)	.	.	0.999984399620937	0.754
18	61378567	A	T	18	63711333	y	y	splicing	SERPINB11(NM_080475:exon3:c.169-2A>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.169-2A>T;ENST00000544088:exon3:c.169-2A>T)	.	.	0.999980255680118	0.742
18	61378568	G	A	18	63711334	y	y	splicing	SERPINB11(NM_080475:exon3:c.169-1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.169-1G>A;ENST00000544088:exon3:c.169-1G>A)	.	.	0.999977614472875	0.776
18	61378568	G	C	18	63711334	y	y	splicing	SERPINB11(NM_080475:exon3:c.169-1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.169-1G>C;ENST00000544088:exon3:c.169-1G>C)	.	.	0.999977614472875	0.74
18	61378568	G	T	18	63711334	y	y	splicing	SERPINB11(NM_080475:exon3:c.169-1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.169-1G>T;ENST00000544088:exon3:c.169-1G>T)	.	.	0.999977614472875	0.736
18	61378569	G	A	18	63711335	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.967513000262219	0.58
18	61378569	G	C	18	63711335	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.992623566439053	0.742
18	61378569	G	T	18	63711335	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.995716184101488	0.756
18	61378570	T	A	18	63711336	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.0667416806888758	0.23
18	61378570	T	C	18	63711336	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.0919191904997761	0.282
18	61378570	T	G	18	63711336	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.0358757907435237	0.148
18	61378626	A	C	18	63711392	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	3.57455491046874E-5	0.0
18	61378626	A	G	18	63711392	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	5.88564518311219E-5	0.0
18	61378626	A	T	18	63711392	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.00954075260755468	0.38
18	61378627	A	C	18	63711393	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.394471687248698	0.508
18	61378627	A	G	18	63711393	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.714259766767974	0.504
18	61378627	A	T	18	63711393	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.925964551912655	0.716
18	61378628	G	A	18	63711394	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.99926607618383	0.966
18	61378628	G	C	18	63711394	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.999989592593477	0.972
18	61378628	G	T	18	63711394	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.999937743702403	0.982
18	61378629	G	A	18	63711395	y	y	splicing	SERPINB11(NM_080475:exon3:c.228+1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.228+1G>A;ENST00000544088:exon3:c.228+1G>A)	.	.	0.99992904422189	0.77
18	61378629	G	C	18	63711395	y	y	splicing	SERPINB11(NM_080475:exon3:c.228+1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.228+1G>C;ENST00000544088:exon3:c.228+1G>C)	.	.	0.99995169066922	0.774
18	61378629	G	T	18	63711395	y	y	splicing	SERPINB11(NM_080475:exon3:c.228+1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.228+1G>T;ENST00000544088:exon3:c.228+1G>T)	.	.	0.99995169066922	0.77
18	61378630	T	A	18	63711396	y	y	splicing	SERPINB11(NM_080475:exon3:c.228+2T>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.228+2T>A;ENST00000544088:exon3:c.228+2T>A)	.	.	0.999946001720132	0.766
18	61378630	T	C	18	63711396	y	y	splicing	SERPINB11(NM_080475:exon3:c.228+2T>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.228+2T>C;ENST00000544088:exon3:c.228+2T>C)	.	.	0.918478355211544	0.484
18	61378630	T	G	18	63711396	y	y	splicing	SERPINB11(NM_080475:exon3:c.228+2T>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon4:c.228+2T>G;ENST00000544088:exon3:c.228+2T>G)	.	.	0.999929575678921	0.77
18	61378631	A	C	18	63711397	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.998982611736925	0.876
18	61378631	A	G	18	63711397	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.997379857189942	0.69
18	61378631	A	T	18	63711397	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999168336229796	0.898
18	61378632	T	A	18	63711398	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.29232965215518E-5	0.02
18	61378632	T	C	18	63711398	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.95815540499835E-5	0.0
18	61378632	T	G	18	63711398	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.55254407299138E-5	0.004
18	61378633	G	A	18	63711399	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.458519670260928	0.572
18	61378633	G	C	18	63711399	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.825077794935621	0.542
18	61378633	G	T	18	63711399	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.931240139196014	0.642
18	61378634	A	C	18	63711400	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.11326127154756E-4	0.024
18	61378634	A	G	18	63711400	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.71536460722168E-5	0.002
18	61378634	A	T	18	63711400	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.15998357265506E-5	0.01
18	61378635	T	A	18	63711401	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.01763221548259E-4	0.0
18	61378635	T	C	18	63711401	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.01763221548259E-4	0.0
18	61378635	T	G	18	63711401	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.60750917007636E-5	0.0
18	61378636	A	C	18	63711402	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.37180884818161E-4	0.004
18	61378636	A	G	18	63711402	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.98222558362927E-5	0.0
18	61378636	A	T	18	63711402	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.01360650998576E-5	0.0
18	61379787	C	A	18	63712553	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.08164680815803E-4	0.03
18	61379787	C	G	18	63712553	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999377331343504	0.98
18	61379787	C	T	18	63712553	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.22489305459283E-5	0.0
18	61379788	T	A	18	63712554	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999885798501321	0.972
18	61379788	T	C	18	63712554	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.12550869339152E-4	0.156
18	61379788	T	G	18	63712554	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.823898270067964	0.48
18	61379789	G	A	18	63712555	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.19440161757826E-4	0.022
18	61379789	G	C	18	63712555	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.16130696168221E-5	0.0
18	61379789	G	T	18	63712555	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.37714566636493E-5	0.0
18	61379790	A	C	18	63712556	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.38437873276612E-5	0.012
18	61379790	A	G	18	63712556	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.33345842198945E-5	0.072
18	61379790	A	T	18	63712556	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.08911408954361E-5	0.046
18	61379791	T	A	18	63712557	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.99979308890706	0.946
18	61379791	T	C	18	63712557	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.03279204365884E-4	0.064
18	61379791	T	G	18	63712557	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999808941027502	0.936
18	61379792	G	A	18	63712558	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.92407271705706E-5	0.026
18	61379792	G	C	18	63712558	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.06488069256303E-5	0.022
18	61379792	G	T	18	63712558	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.06488069256303E-5	0.022
18	61379793	C	A	18	63712559	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.39939361904335E-4	0.188
18	61379793	C	G	18	63712559	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00100011813998039	0.2
18	61379793	C	T	18	63712559	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.92751509264544E-5	0.066
18	61379794	T	A	18	63712560	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.977873228638994	0.626
18	61379794	T	C	18	63712560	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00113786218746855	0.118
18	61379794	T	G	18	63712560	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.994761336935408	0.618
18	61379795	T	A	18	63712561	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.34739406934308E-5	0.006
18	61379795	T	C	18	63712561	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.5402592833139E-5	0.058
18	61379795	T	G	18	63712561	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.4621869858364E-4	0.058
18	61379796	C	A	18	63712562	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999268072176815	0.868
18	61379796	C	G	18	63712562	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999784693642344	0.894
18	61379796	C	T	18	63712562	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.38705649414608E-4	0.09
18	61379797	A	C	18	63712563	y	y	splicing	SERPINB11(NM_080475:exon4:c.229-2A>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.229-2A>C;ENST00000544088:exon4:c.229-2A>C)	.	.	0.999968585001639	0.888
18	61379797	A	G	18	63712563	y	y	splicing	SERPINB11(NM_080475:exon4:c.229-2A>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.229-2A>G;ENST00000544088:exon4:c.229-2A>G)	.	.	0.999968585001639	0.886
18	61379797	A	T	18	63712563	y	y	splicing	SERPINB11(NM_080475:exon4:c.229-2A>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.229-2A>T;ENST00000544088:exon4:c.229-2A>T)	.	.	0.999979863570546	0.914
18	61379798	G	A	18	63712564	y	y	splicing	SERPINB11(NM_080475:exon4:c.229-1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.229-1G>A;ENST00000544088:exon4:c.229-1G>A)	.	.	0.999922934246776	0.78
18	61379798	G	C	18	63712564	y	y	splicing	SERPINB11(NM_080475:exon4:c.229-1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.229-1G>C;ENST00000544088:exon4:c.229-1G>C)	.	.	0.999939108086042	0.786
18	61379798	G	T	18	63712564	y	y	splicing	SERPINB11(NM_080475:exon4:c.229-1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.229-1G>T;ENST00000544088:exon4:c.229-1G>T)	.	.	0.999922934246776	0.778
18	61379799	T	A	18	63712565	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	1.35933049115753E-4	0.004
18	61379799	T	C	18	63712565	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	2.54713363332791E-4	0.088
18	61379799	T	G	18	63712565	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.00224166728630644	0.118
18	61379800	G	A	18	63712566	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.015876747652807	0.222
18	61379800	G	C	18	63712566	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	9.66942913563321E-4	0.102
18	61379800	G	T	18	63712566	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.0037089130974399	0.062
18	61379925	C	A	18	63712691	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	5.00394853054918E-5	0.012
18	61379925	C	G	18	63712691	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	3.31324948877057E-5	0.004
18	61379925	C	T	18	63712691	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.00136301940788619	0.126
18	61379926	A	C	18	63712692	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.0711309788408791	0.396
18	61379926	A	G	18	63712692	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.149393576248747	0.31
18	61379926	A	T	18	63712692	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.199945018670091	0.394
18	61379927	G	A	18	63712693	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.232428057905585	0.324
18	61379927	G	C	18	63712693	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.984856224692892	0.638
18	61379927	G	T	18	63712693	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.963870782523596	0.692
18	61379928	G	A	18	63712694	y	y	splicing	SERPINB11(NM_080475:exon4:c.357+1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.357+1G>A;ENST00000544088:exon4:c.357+1G>A)	.	.	0.99996748057446	0.9
18	61379928	G	C	18	63712694	y	y	splicing	SERPINB11(NM_080475:exon4:c.357+1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.357+1G>C;ENST00000544088:exon4:c.357+1G>C)	.	.	0.999968430223941	0.882
18	61379928	G	T	18	63712694	y	y	splicing	SERPINB11(NM_080475:exon4:c.357+1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.357+1G>T;ENST00000544088:exon4:c.357+1G>T)	.	.	0.999968430223941	0.862
18	61379929	T	A	18	63712695	y	y	splicing	SERPINB11(NM_080475:exon4:c.357+2T>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.357+2T>A;ENST00000544088:exon4:c.357+2T>A)	.	.	0.999972871252391	0.876
18	61379929	T	C	18	63712695	y	y	splicing	SERPINB11(NM_080475:exon4:c.357+2T>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.357+2T>C;ENST00000544088:exon4:c.357+2T>C)	.	.	0.966695040432933	0.572
18	61379929	T	G	18	63712695	y	y	splicing	SERPINB11(NM_080475:exon4:c.357+2T>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon5:c.357+2T>G;ENST00000544088:exon4:c.357+2T>G)	.	.	0.999972155025474	0.866
18	61379930	A	C	18	63712696	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.029722323624662	0.346
18	61379930	A	G	18	63712696	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.35780704540463E-4	0.008
18	61379930	A	T	18	63712696	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0541571452767479	0.394
18	61379931	A	C	18	63712697	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0359906901104743	0.29
18	61379931	A	G	18	63712697	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0755489030352241	0.27
18	61379931	A	T	18	63712697	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0555612427991862	0.278
18	61379932	G	A	18	63712698	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.378891110684143	0.49
18	61379932	G	C	18	63712698	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.514974888238235	0.446
18	61379932	G	T	18	63712698	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.716065039919693	0.52
18	61379933	T	A	18	63712699	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00178198964178836	0.134
18	61379933	T	C	18	63712699	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00330152449013859	0.156
18	61379933	T	G	18	63712699	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.23084506401344E-4	0.094
18	61379934	C	A	18	63712700	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.24918381358903E-5	0.006
18	61379934	C	G	18	63712700	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.24918381358903E-5	0.006
18	61379934	C	T	18	63712700	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.47417964438883E-5	0.006
18	61379935	C	A	18	63712701	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.14232886361596E-5	0.0
18	61379935	C	G	18	63712701	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.14232886361596E-5	0.0
18	61379935	C	T	18	63712701	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.67553546471641E-5	0.0
18	61383257	T	A	18	63716023	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.99936223448161	0.964
18	61383257	T	C	18	63716023	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.38104483145996E-4	0.046
18	61383257	T	G	18	63716023	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999434422124531	0.968
18	61383258	G	A	18	63716024	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.11129793254532E-4	0.036
18	61383258	G	C	18	63716024	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.98865059929928E-6	0.002
18	61383258	G	T	18	63716024	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.74637948488683E-5	0.062
18	61383259	T	A	18	63716025	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.858328501498943	0.62
18	61383259	T	C	18	63716025	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.25910426448142E-4	0.072
18	61383259	T	G	18	63716025	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.78516346657719	0.648
18	61383260	C	A	18	63716026	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.13332740429114E-4	0.064
18	61383260	C	G	18	63716026	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.80162237810297E-4	0.084
18	61383260	C	T	18	63716026	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.69725093148E-5	0.0
18	61383261	T	A	18	63716027	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.637776689512514	0.606
18	61383261	T	C	18	63716027	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00132154027170858	0.094
18	61383261	T	G	18	63716027	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0700847075782093	0.438
18	61383262	T	A	18	63716028	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0375212561440647	0.306
18	61383262	T	C	18	63716028	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.13960975551122E-4	0.03
18	61383262	T	G	18	63716028	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00960339095259562	0.256
18	61383263	T	A	18	63716029	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.388299143617372	0.512
18	61383263	T	C	18	63716029	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.91756965412157E-4	0.03
18	61383263	T	G	18	63716029	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.258996487300077	0.522
18	61383264	C	A	18	63716030	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.75441167042154E-4	0.064
18	61383264	C	G	18	63716030	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.99791053581912E-4	0.066
18	61383264	C	T	18	63716030	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.45612225627207E-5	0.0
18	61383265	A	C	18	63716031	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.99717153291202E-5	0.0
18	61383265	A	G	18	63716031	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.0470854288059E-4	0.014
18	61383265	A	T	18	63716031	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.32326766425991E-4	0.0
18	61383266	T	A	18	63716032	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.57304340798771E-4	0.134
18	61383266	T	C	18	63716032	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.75971867117237E-4	0.028
18	61383266	T	G	18	63716032	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.60219286673913	0.524
18	61383267	A	C	18	63716033	y	y	splicing	SERPINB11(NM_080475:exon5:c.358-2A>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.358-2A>C;ENST00000544088:exon5:c.358-2A>C)	.	.	0.999972844844577	0.96
18	61383267	A	G	18	63716033	y	y	splicing	SERPINB11(NM_080475:exon5:c.358-2A>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.358-2A>G;ENST00000544088:exon5:c.358-2A>G)	.	.	0.999972844844577	0.96
18	61383267	A	T	18	63716033	y	y	splicing	SERPINB11(NM_080475:exon5:c.358-2A>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.358-2A>T;ENST00000544088:exon5:c.358-2A>T)	.	.	0.999972592139083	0.956
18	61383268	G	A	18	63716034	y	y	splicing	SERPINB11(NM_080475:exon5:c.358-1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.358-1G>A;ENST00000544088:exon5:c.358-1G>A)	.	.	0.999979422316293	0.95
18	61383268	G	C	18	63716034	y	y	splicing	SERPINB11(NM_080475:exon5:c.358-1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.358-1G>C;ENST00000544088:exon5:c.358-1G>C)	.	.	0.999963147049869	0.948
18	61383268	G	T	18	63716034	y	y	splicing	SERPINB11(NM_080475:exon5:c.358-1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.358-1G>T;ENST00000544088:exon5:c.358-1G>T)	.	.	0.999979422316293	0.95
18	61383269	C	A	18	63716035	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	1.56660666628435E-4	0.014
18	61383269	C	G	18	63716035	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	3.66177207316227E-4	0.224
18	61383269	C	T	18	63716035	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.0044677410658058	0.33
18	61383270	A	C	18	63716036	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.784022289006719	0.772
18	61383270	A	G	18	63716036	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.677212190381983	0.66
18	61383270	A	T	18	63716036	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.727319293076777	0.746
18	61383384	A	C	18	63716150	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.0121013827166401	0.218
18	61383384	A	G	18	63716150	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.00304590788557052	0.102
18	61383384	A	T	18	63716150	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.0271947044533412	0.234
18	61383385	T	A	18	63716151	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.400487087032514	0.616
18	61383385	T	C	18	63716151	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.00463823931373579	0.186
18	61383385	T	G	18	63716151	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.382598190650217	0.714
18	61383386	G	A	18	63716152	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.999772308040174	0.986
18	61383386	G	C	18	63716152	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.99999388448829	0.988
18	61383386	G	T	18	63716152	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.999978282591988	0.95
18	61383387	G	A	18	63716153	y	y	splicing	SERPINB11(NM_080475:exon5:c.475+1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.475+1G>A;ENST00000544088:exon5:c.475+1G>A)	.	.	0.999981760802075	0.94
18	61383387	G	C	18	63716153	y	y	splicing	SERPINB11(NM_080475:exon5:c.475+1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.475+1G>C;ENST00000544088:exon5:c.475+1G>C)	.	.	0.999981760802075	0.94
18	61383387	G	T	18	63716153	y	y	splicing	SERPINB11(NM_080475:exon5:c.475+1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.475+1G>T;ENST00000544088:exon5:c.475+1G>T)	.	.	0.999981760802075	0.94
18	61383388	T	A	18	63716154	y	y	splicing	SERPINB11(NM_080475:exon5:c.475+2T>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.475+2T>A;ENST00000544088:exon5:c.475+2T>A)	.	.	0.999992752818502	0.928
18	61383388	T	C	18	63716154	y	y	splicing	SERPINB11(NM_080475:exon5:c.475+2T>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.475+2T>C;ENST00000544088:exon5:c.475+2T>C)	.	.	0.999914795383908	0.896
18	61383388	T	G	18	63716154	y	y	splicing	SERPINB11(NM_080475:exon5:c.475+2T>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon6:c.475+2T>G;ENST00000544088:exon5:c.475+2T>G)	.	.	0.999992752818502	0.928
18	61383389	A	C	18	63716155	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999486987876005	0.928
18	61383389	A	G	18	63716155	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0570037741929217	0.332
18	61383389	A	T	18	63716155	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.989861174574596	0.836
18	61383390	A	C	18	63716156	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.980847589500485	0.85
18	61383390	A	G	18	63716156	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.998256261306534	0.916
18	61383390	A	T	18	63716156	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.99800195414643	0.864
18	61383391	G	A	18	63716157	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.998181342730069	0.866
18	61383391	G	C	18	63716157	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999590801957836	0.944
18	61383391	G	T	18	63716157	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999403982355795	0.838
18	61383392	G	A	18	63716158	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.14347563963673E-4	0.006
18	61383392	G	C	18	63716158	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.81004170039675E-4	0.018
18	61383392	G	T	18	63716158	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.53781092303661E-5	0.0
18	61383393	A	C	18	63716159	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.79097502026846E-4	0.018
18	61383393	A	G	18	63716159	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.79097502026846E-4	0.018
18	61383393	A	T	18	63716159	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.54004682168068E-4	0.024
18	61383394	T	A	18	63716160	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.13579648059738E-4	0.0
18	61383394	T	C	18	63716160	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.91856155524127E-5	0.0
18	61383394	T	G	18	63716160	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.07192112825664E-5	0.0
18	61387235	T	A	18	63720001	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0297955020488	0.386
18	61387235	T	C	18	63720001	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.27153053944175E-4	0.068
18	61387235	T	G	18	63720001	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0127436894955925	0.344
18	61387236	T	A	18	63720002	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.260353088908789	0.342
18	61387236	T	C	18	63720002	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00231347706424399	0.116
18	61387236	T	G	18	63720002	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0991998267188168	0.418
18	61387237	T	A	18	63720003	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0389812775055884	0.426
18	61387237	T	C	18	63720003	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.95266914051187E-4	0.05
18	61387237	T	G	18	63720003	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.211124318225565	0.474
18	61387238	T	A	18	63720004	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.103710741940705	0.462
18	61387238	T	C	18	63720004	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.01157446170878E-4	0.066
18	61387238	T	G	18	63720004	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.107786409979882	0.398
18	61387239	T	A	18	63720005	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0586301926481366	0.254
18	61387239	T	C	18	63720005	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.4214595700369E-5	0.04
18	61387239	T	G	18	63720005	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.15359592985533	0.504
18	61387240	A	C	18	63720006	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.72698803105811E-5	0.012
18	61387240	A	G	18	63720006	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.6638162598843E-5	0.002
18	61387240	A	T	18	63720006	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.28491564480404E-5	0.032
18	61387241	T	A	18	63720007	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00331800466987195	0.126
18	61387241	T	C	18	63720007	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.35044975108539E-5	0.02
18	61387241	T	G	18	63720007	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.998847226896354	0.896
18	61387242	A	C	18	63720008	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.88320012386356E-5	0.006
18	61387242	A	G	18	63720008	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.35538542751975E-4	0.042
18	61387242	A	T	18	63720008	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.60048346413611E-4	0.038
18	61387243	C	A	18	63720009	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.12302976148543E-5	0.004
18	61387243	C	G	18	63720009	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.998745864541037	0.974
18	61387243	C	T	18	63720009	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.27844210821563E-5	0.006
18	61387244	A	C	18	63720010	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.60243491178453E-4	0.112
18	61387244	A	G	18	63720010	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.144939566610124	0.398
18	61387244	A	T	18	63720010	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.77915782663896E-4	0.03
18	61387245	A	C	18	63720011	y	y	splicing	SERPINB11(NM_080475:exon6:c.476-2A>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.476-2A>C;ENST00000544088:exon6:c.476-2A>C)	.	.	0.999959626360342	0.902
18	61387245	A	G	18	63720011	y	y	splicing	SERPINB11(NM_080475:exon6:c.476-2A>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.476-2A>G;ENST00000544088:exon6:c.476-2A>G)	.	.	0.999959626360342	0.902
18	61387245	A	T	18	63720011	y	y	splicing	SERPINB11(NM_080475:exon6:c.476-2A>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.476-2A>T;ENST00000544088:exon6:c.476-2A>T)	.	.	0.999959626360342	0.906
18	61387246	G	A	18	63720012	y	y	splicing	SERPINB11(NM_080475:exon6:c.476-1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.476-1G>A;ENST00000544088:exon6:c.476-1G>A)	.	.	0.999976638640456	0.912
18	61387246	G	C	18	63720012	y	y	splicing	SERPINB11(NM_080475:exon6:c.476-1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.476-1G>C;ENST00000544088:exon6:c.476-1G>C)	.	.	0.999976638640456	0.912
18	61387246	G	T	18	63720012	y	y	splicing	SERPINB11(NM_080475:exon6:c.476-1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.476-1G>T;ENST00000544088:exon6:c.476-1G>T)	.	.	0.999976638640456	0.912
18	61387247	G	A	18	63720013	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.916420660164183	0.538
18	61387247	G	C	18	63720013	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.996531470846788	0.86
18	61387247	G	T	18	63720013	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	0.999695014140577	0.956
18	61387248	A	C	18	63720014	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	4.63041507841264E-4	0.058
18	61387248	A	G	18	63720014	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	1.69786748602589E-4	0.04
18	61387248	A	T	18	63720014	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	unknown	UNKNOWN	9.4257483813791E-5	0.022
18	61387387	G	A	18	63720153	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon5:c.G91A:p.E31K;	4.80563939482675E-5	0.004
18	61387387	G	C	18	63720153	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon5:c.G91C:p.E31Q;	1.17284701181784E-4	0.002
18	61387387	G	T	18	63720153	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	stopgain SNV	ENSG00000206072:ENST00000536691:exon5:c.G91T:p.E31X;	0.00330167479797574	0.28
18	61387388	A	C	18	63720154	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon5:c.A92C:p.E31A;	0.363953070642242	0.534
18	61387388	A	G	18	63720154	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon5:c.A92G:p.E31G;	0.418844219861595	0.498
18	61387388	A	T	18	63720154	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon5:c.A92T:p.E31V;	0.333907668241922	0.484
18	61387389	G	A	18	63720155	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	synonymous SNV	ENSG00000206072:ENST00000536691:exon5:c.G93A:p.E31E;	0.868824325295576	0.542
18	61387389	G	C	18	63720155	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon5:c.G93C:p.E31D;	0.997666397455106	0.916
18	61387389	G	T	18	63720155	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon5:c.G93T:p.E31D;	0.994961339169116	0.876
18	61387390	G	A	18	63720156	y	y	splicing	SERPINB11(NM_080475:exon6:c.618+1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.618+1G>A;ENST00000536691:exon5:c.93+1G>A;ENST00000544088:exon6:c.618+1G>A)	.	.	0.999990361384395	0.938
18	61387390	G	C	18	63720156	y	y	splicing	SERPINB11(NM_080475:exon6:c.618+1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.618+1G>C;ENST00000536691:exon5:c.93+1G>C;ENST00000544088:exon6:c.618+1G>C)	.	.	0.999990361384395	0.938
18	61387390	G	T	18	63720156	y	y	splicing	SERPINB11(NM_080475:exon6:c.618+1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.618+1G>T;ENST00000536691:exon5:c.93+1G>T;ENST00000544088:exon6:c.618+1G>T)	.	.	0.999990361384395	0.938
18	61387391	T	A	18	63720157	y	y	splicing	SERPINB11(NM_080475:exon6:c.618+2T>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.618+2T>A;ENST00000536691:exon5:c.93+2T>A;ENST00000544088:exon6:c.618+2T>A)	.	.	0.999986607513753	0.914
18	61387391	T	C	18	63720157	y	y	splicing	SERPINB11(NM_080475:exon6:c.618+2T>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.618+2T>C;ENST00000536691:exon5:c.93+2T>C;ENST00000544088:exon6:c.618+2T>C)	.	.	0.988442841961622	0.584
18	61387391	T	G	18	63720157	y	y	splicing	SERPINB11(NM_080475:exon6:c.618+2T>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon7:c.618+2T>G;ENST00000536691:exon5:c.93+2T>G;ENST00000544088:exon6:c.618+2T>G)	.	.	0.999986607513753	0.914
18	61387392	A	C	18	63720158	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.463074286807485	0.456
18	61387392	A	G	18	63720158	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.4930645775668E-4	0.016
18	61387392	A	T	18	63720158	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.344555326899074	0.416
18	61387393	A	C	18	63720159	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0318759304951582	0.25
18	61387393	A	G	18	63720159	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.035221135081779	0.256
18	61387393	A	T	18	63720159	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0436602672413634	0.204
18	61387394	G	A	18	63720160	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.976275916040471	0.666
18	61387394	G	C	18	63720160	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.826092945571113	0.502
18	61387394	G	T	18	63720160	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.864036134883677	0.458
18	61387395	T	A	18	63720161	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00580228085150817	0.218
18	61387395	T	C	18	63720161	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0106504060123096	0.204
18	61387395	T	G	18	63720161	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0023562415855362	0.126
18	61387396	A	C	18	63720162	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.91285012458584E-4	0.008
18	61387396	A	G	18	63720162	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.91285012458584E-4	0.008
18	61387396	A	T	18	63720162	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.30819145506541E-4	0.012
18	61387397	T	A	18	63720163	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.16080636402324E-4	0.004
18	61387397	T	C	18	63720163	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.16080636402324E-4	0.002
18	61387397	T	G	18	63720163	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.16080636402324E-4	0.0
18	61388053	T	A	18	63720819	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00114671984131591	0.11
18	61388053	T	C	18	63720819	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.76943794884413E-5	0.004
18	61388053	T	G	18	63720819	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.29868130199688E-4	0.074
18	61388054	C	A	18	63720820	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.70205187949835E-5	0.01
18	61388054	C	G	18	63720820	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.30422755006122E-5	0.0
18	61388054	C	T	18	63720820	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.18844764073394E-5	0.0
18	61388055	T	A	18	63720821	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.50575027055072E-4	0.07
18	61388055	T	C	18	63720821	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.202281290338E-5	0.0
18	61388055	T	G	18	63720821	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.14514873839562E-4	0.068
18	61388056	T	A	18	63720822	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0019866562078686	0.086
18	61388056	T	C	18	63720822	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.19410981386154E-4	0.002
18	61388056	T	G	18	63720822	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00167414236117591	0.09
18	61388057	C	A	18	63720823	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.50426259662651E-4	0.054
18	61388057	C	G	18	63720823	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.75396933885751E-4	0.034
18	61388057	C	T	18	63720823	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.63169882678107E-5	0.002
18	61388058	T	A	18	63720824	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00200818293257511	0.078
18	61388058	T	C	18	63720824	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.23282653187387E-5	0.0
18	61388058	T	G	18	63720824	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.71788374672118E-4	0.042
18	61388059	T	A	18	63720825	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.31944787500386E-4	0.068
18	61388059	T	C	18	63720825	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.23282653187387E-5	0.0
18	61388059	T	G	18	63720825	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00104141909975342	0.072
18	61388060	A	C	18	63720826	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.08292564569715E-6	0.0
18	61388060	A	G	18	63720826	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	6.63788063112176E-5	0.01
18	61388060	A	T	18	63720826	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.52250426960717E-6	0.0
18	61388061	A	C	18	63720827	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	9.62615919216115E-5	0.008
18	61388061	A	G	18	63720827	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.795814127759174	0.686
18	61388061	A	T	18	63720827	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.41086086753133E-4	0.008
18	61388062	C	A	18	63720828	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.131003760342793	0.346
18	61388062	C	G	18	63720828	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.99625248237281	0.698
18	61388062	C	T	18	63720828	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.16020271663429E-4	0.006
18	61388063	A	C	18	63720829	y	y	splicing	SERPINB11(NM_080475:exon7:c.619-2A>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.619-2A>C;ENST00000536691:exon6:c.94-2A>C;ENST00000544088:exon7:c.619-2A>C)	.	.	0.999871793741964	0.802
18	61388063	A	G	18	63720829	y	y	splicing	SERPINB11(NM_080475:exon7:c.619-2A>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.619-2A>G;ENST00000536691:exon6:c.94-2A>G;ENST00000544088:exon7:c.619-2A>G)	.	.	0.999871793741964	0.802
18	61388063	A	T	18	63720829	y	y	splicing	SERPINB11(NM_080475:exon7:c.619-2A>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.619-2A>T;ENST00000536691:exon6:c.94-2A>T;ENST00000544088:exon7:c.619-2A>T)	.	.	0.999871793741964	0.844
18	61388064	G	A	18	63720830	y	y	splicing	SERPINB11(NM_080475:exon7:c.619-1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.619-1G>A;ENST00000536691:exon6:c.94-1G>A;ENST00000544088:exon7:c.619-1G>A)	.	.	0.999974785031454	0.884
18	61388064	G	C	18	63720830	y	y	splicing	SERPINB11(NM_080475:exon7:c.619-1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.619-1G>C;ENST00000536691:exon6:c.94-1G>C;ENST00000544088:exon7:c.619-1G>C)	.	.	0.999974785031454	0.866
18	61388064	G	T	18	63720830	y	y	splicing	SERPINB11(NM_080475:exon7:c.619-1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.619-1G>T;ENST00000536691:exon6:c.94-1G>T;ENST00000544088:exon7:c.619-1G>T)	.	.	0.999974785031454	0.878
18	61388065	G	A	18	63720831	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G94A:p.G32S;	0.00111378717267312	0.21
18	61388065	G	C	18	63720831	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G94C:p.G32R;	0.0185903503309919	0.396
18	61388065	G	T	18	63720831	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G94T:p.G32C;	0.187178115234967	0.426
18	61388066	G	A	18	63720832	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G95A:p.G32D;	6.8187343720562E-5	0.006
18	61388066	G	C	18	63720832	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G95C:p.G32A;	5.36617725417926E-4	0.004
18	61388066	G	T	18	63720832	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G95T:p.G32V;	6.79649646483605E-5	0.0
18	61388218	C	A	18	63720984	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.C247A:p.Q83K;	9.52672674815396E-5	0.07
18	61388218	C	G	18	63720984	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.C247G:p.Q83E;	0.00361718368875111	0.114
18	61388218	C	T	18	63720984	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	stopgain SNV	ENSG00000206072:ENST00000536691:exon6:c.C247T:p.Q83X;	0.809164752356595	0.644
18	61388219	A	C	18	63720985	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.A248C:p.Q83P;	0.998769641637581	0.952
18	61388219	A	G	18	63720985	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.A248G:p.Q83R;	0.998940556204327	0.988
18	61388219	A	T	18	63720985	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.A248T:p.Q83L;	0.999765565593262	0.992
18	61388220	G	A	18	63720986	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	synonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G249A:p.Q83Q;	0.999969380851867	0.984
18	61388220	G	C	18	63720986	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G249C:p.Q83H;	0.9999981677847	1.0
18	61388220	G	T	18	63720986	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000536691:exon6:c.G249T:p.Q83H;	0.99999006121748	1.0
18	61388221	G	A	18	63720987	y	y	splicing	SERPINB11(NM_080475:exon7:c.774+1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.774+1G>A;ENST00000536691:exon6:c.249+1G>A;ENST00000544088:exon7:c.774+1G>A)	.	.	0.99993314117114	0.944
18	61388221	G	C	18	63720987	y	y	splicing	SERPINB11(NM_080475:exon7:c.774+1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.774+1G>C;ENST00000536691:exon6:c.249+1G>C;ENST00000544088:exon7:c.774+1G>C)	.	.	0.99993314117114	0.948
18	61388221	G	T	18	63720987	y	y	splicing	SERPINB11(NM_080475:exon7:c.774+1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.774+1G>T;ENST00000536691:exon6:c.249+1G>T;ENST00000544088:exon7:c.774+1G>T)	.	.	0.99993314117114	0.944
18	61388222	T	A	18	63720988	y	y	splicing	SERPINB11(NM_080475:exon7:c.774+2T>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.774+2T>A;ENST00000536691:exon6:c.249+2T>A;ENST00000544088:exon7:c.774+2T>A)	.	.	0.999966203349492	0.944
18	61388222	T	C	18	63720988	y	y	splicing	SERPINB11(NM_080475:exon7:c.774+2T>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.774+2T>C;ENST00000536691:exon6:c.249+2T>C;ENST00000544088:exon7:c.774+2T>C)	.	.	0.987176361708901	0.644
18	61388222	T	G	18	63720988	y	y	splicing	SERPINB11(NM_080475:exon7:c.774+2T>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon8:c.774+2T>G;ENST00000536691:exon6:c.249+2T>G;ENST00000544088:exon7:c.774+2T>G)	.	.	0.999966514958823	0.944
18	61388223	A	C	18	63720989	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999536527845758	0.946
18	61388223	A	G	18	63720989	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.917031135007665	0.562
18	61388223	A	T	18	63720989	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999255036920191	0.9
18	61388224	A	C	18	63720990	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0496485250034018	0.296
18	61388224	A	G	18	63720990	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0795141159270642	0.378
18	61388224	A	T	18	63720990	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.160284683657859	0.35
18	61388225	A	C	18	63720991	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.62316858821934E-5	0.028
18	61388225	A	G	18	63720991	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.33608607235739E-4	0.07
18	61388225	A	T	18	63720991	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.62602656562603E-4	0.014
18	61388226	A	C	18	63720992	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.13105375122814E-4	0.02
18	61388226	A	G	18	63720992	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.40559502684831E-5	0.0
18	61388226	A	T	18	63720992	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.65965658795311E-5	0.0
18	61388227	T	A	18	63720993	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.66387276286188E-4	0.0
18	61388227	T	C	18	63720993	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.1577034869657E-4	0.0
18	61388227	T	G	18	63720993	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	7.40880346859046E-5	0.0
18	61388228	T	A	18	63720994	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.64943915979503E-5	0.0
18	61388228	T	C	18	63720994	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	5.95940901121338E-5	0.008
18	61388228	T	G	18	63720994	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.90296496844087E-5	0.0
18	61390217	T	A	18	63722983	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0042850952493888	0.206
18	61390217	T	C	18	63722983	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.52739607955778E-4	0.004
18	61390217	T	G	18	63722983	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00149137497370382	0.198
18	61390218	T	A	18	63722984	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0130514354846468	0.32
18	61390218	T	C	18	63722984	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00108487322163962	0.164
18	61390218	T	G	18	63722984	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00465823014675424	0.256
18	61390219	T	A	18	63722985	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.999484580000401	0.968
18	61390219	T	C	18	63722985	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.81306542563893E-4	0.014
18	61390219	T	G	18	63722985	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00664456581430728	0.254
18	61390220	G	A	18	63722986	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.65740407751058E-5	0.0
18	61390220	G	C	18	63722986	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.21050492325583E-5	0.0
18	61390220	G	T	18	63722986	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.29568602019923E-5	0.002
18	61390221	T	A	18	63722987	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00395096572450094	0.204
18	61390221	T	C	18	63722987	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.73197129225893E-5	0.01
18	61390221	T	G	18	63722987	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.54079014197949E-4	0.24
18	61390222	C	A	18	63722988	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	3.05476464806E-5	0.054
18	61390222	C	G	18	63722988	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	4.43585988011921E-5	0.07
18	61390222	C	T	18	63722988	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.83651309907707E-5	0.008
18	61390223	T	A	18	63722989	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.00402420791364941	0.124
18	61390223	T	C	18	63722989	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.14985883727204E-5	0.0
18	61390223	T	G	18	63722989	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0107558519889057	0.178
18	61390224	C	A	18	63722990	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.49317109154634E-4	0.134
18	61390224	C	G	18	63722990	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	8.41490962889121E-5	0.062
18	61390224	C	T	18	63722990	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.67981211067488E-5	0.01
18	61390225	T	A	18	63722991	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.87511070421791E-5	0.0
18	61390225	T	C	18	63722991	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	1.74061283009118E-5	0.0
18	61390225	T	G	18	63722991	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.04740715180201E-5	0.0
18	61390226	T	A	18	63722992	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.0161389461045763	0.224
18	61390226	T	C	18	63722992	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	2.70267429586163E-5	0.01
18	61390226	T	G	18	63722992	y	y	intronic	SERPINB11	.	.	intronic	ENSG00000206072	.	.	0.994721434692915	0.71
18	61390227	A	C	18	63722993	y	y	splicing	SERPINB11(NM_080475:exon8:c.775-2A>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon9:c.775-2A>C;ENST00000536691:exon7:c.250-2A>C;ENST00000538847:exon3:c.169-2A>C;ENST00000544088:exon8:c.775-2A>C)	.	.	0.999982151912279	0.89
18	61390227	A	G	18	63722993	y	y	splicing	SERPINB11(NM_080475:exon8:c.775-2A>G)	.	.	splicing	ENSG00000206072(ENST00000382749:exon9:c.775-2A>G;ENST00000536691:exon7:c.250-2A>G;ENST00000538847:exon3:c.169-2A>G;ENST00000544088:exon8:c.775-2A>G)	.	.	0.999982151912279	0.89
18	61390227	A	T	18	63722993	y	y	splicing	SERPINB11(NM_080475:exon8:c.775-2A>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon9:c.775-2A>T;ENST00000536691:exon7:c.250-2A>T;ENST00000538847:exon3:c.169-2A>T;ENST00000544088:exon8:c.775-2A>T)	.	.	0.999982151912279	0.892
18	61390228	G	A	18	63722994	y	y	splicing	SERPINB11(NM_080475:exon8:c.775-1G>A)	.	.	splicing	ENSG00000206072(ENST00000382749:exon9:c.775-1G>A;ENST00000536691:exon7:c.250-1G>A;ENST00000538847:exon3:c.169-1G>A;ENST00000544088:exon8:c.775-1G>A)	.	.	0.999945520654368	0.948
18	61390228	G	C	18	63722994	y	y	splicing	SERPINB11(NM_080475:exon8:c.775-1G>C)	.	.	splicing	ENSG00000206072(ENST00000382749:exon9:c.775-1G>C;ENST00000536691:exon7:c.250-1G>C;ENST00000538847:exon3:c.169-1G>C;ENST00000544088:exon8:c.775-1G>C)	.	.	0.999943620371814	0.93
18	61390228	G	T	18	63722994	y	y	splicing	SERPINB11(NM_080475:exon8:c.775-1G>T)	.	.	splicing	ENSG00000206072(ENST00000382749:exon9:c.775-1G>T;ENST00000536691:exon7:c.250-1G>T;ENST00000538847:exon3:c.169-1G>T;ENST00000544088:exon8:c.775-1G>T)	.	.	0.999945520654368	0.946
18	61390229	A	C	18	63722995	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon3:c.A169C:p.I57L;ENSG00000206072:ENST00000536691:exon7:c.A250C:p.I84L;	1.44128579365246E-4	0.192
18	61390229	A	G	18	63722995	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon3:c.A169G:p.I57V;ENSG00000206072:ENST00000536691:exon7:c.A250G:p.I84V;	1.76201899951081E-5	0.0
18	61390229	A	T	18	63722995	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon3:c.A169T:p.I57L;ENSG00000206072:ENST00000536691:exon7:c.A250T:p.I84L;	4.21482884422489E-5	0.004
18	61390230	T	A	18	63722996	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon3:c.T170A:p.I57K;ENSG00000206072:ENST00000536691:exon7:c.T251A:p.I84K;	0.182048471708535	0.452
18	61390230	T	C	18	63722996	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon3:c.T170C:p.I57T;ENSG00000206072:ENST00000536691:exon7:c.T251C:p.I84T;	0.014103432049647	0.066
18	61390230	T	G	18	63722996	y	y	exonic	SERPINB11	unknown	UNKNOWN	exonic	ENSG00000206072	nonsynonymous SNV	ENSG00000206072:ENST00000538847:exon3:c.T170G:p.I57R;ENSG00000206072:ENST00000536691:exon7:c.T251G:p.I84R;	0.159301794123086	0.426
18	61420352	G	A	18	63753118	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	2.85754475132664E-4	0.004
18	61420352	G	C	18	63753118	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	4.67263969505705E-4	0.012
18	61420352	G	T	18	63753118	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.00689052216658934	0.108
18	61420353	A	C	18	63753119	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.894553662018768	0.718
18	61420353	A	G	18	63753119	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.96882679538238	0.716
18	61420353	A	T	18	63753119	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.957067497069196	0.714
18	61420354	G	A	18	63753120	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.996188453142302	0.814
18	61420354	G	C	18	63753120	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.980023710354354	0.778
18	61420354	G	T	18	63753120	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.964801984390514	0.802
18	61420355	G	A	18	63753121	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999938422912956	0.93
18	61420355	G	C	18	63753121	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999938422912956	0.944
18	61420355	G	T	18	63753121	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999938422912956	0.93
18	61420356	T	A	18	63753122	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999966203349492	0.93
18	61420356	T	C	18	63753122	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999795733590769	0.872
18	61420356	T	G	18	63753122	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999966203349492	0.93
18	61420357	G	A	18	63753123	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.21286724092587E-5	0.0
18	61420357	G	C	18	63753123	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.102057368952727	0.404
18	61420357	G	T	18	63753123	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0844221952166363	0.406
18	61420358	A	C	18	63753124	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.860294367432538	0.59
18	61420358	A	G	18	63753124	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.954985070079617	0.674
18	61420358	A	T	18	63753124	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.988030820451613	0.76
18	61420359	G	A	18	63753125	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999323461219334	0.912
18	61420359	G	C	18	63753125	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999011397670818	0.87
18	61420359	G	T	18	63753125	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999204992510793	0.896
18	61420360	T	A	18	63753126	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.968782938485708	0.64
18	61420360	T	C	18	63753126	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.559036205358872	0.364
18	61420360	T	G	18	63753126	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.400282665253967	0.414
18	61420361	G	A	18	63753127	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.09665478681943E-4	0.008
18	61420361	G	C	18	63753127	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.69421287505831E-4	0.01
18	61420361	G	T	18	63753127	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.07202986057142E-4	0.004
18	61420362	C	A	18	63753128	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.99106281468312E-6	0.002
18	61420362	C	G	18	63753128	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.99106281468312E-6	0.002
18	61420362	C	T	18	63753128	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.99106281468312E-6	0.002
18	61442948	A	C	18	63775714	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	5.16682635439002E-5	0.0
18	61442948	A	G	18	63775714	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	5.16682635439002E-5	0.0
18	61442948	A	T	18	63775714	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	5.16682635439002E-5	0.0
18	61442949	G	A	18	63775715	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	4.98250057105538E-5	0.0
18	61442949	G	C	18	63775715	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	4.98250057105538E-5	0.0
18	61442949	G	T	18	63775715	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	4.98250057105538E-5	0.0
18	61442950	C	A	18	63775716	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	5.15941453541388E-5	0.002
18	61442950	C	G	18	63775716	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	5.15941453541388E-5	0.002
18	61442950	C	T	18	63775716	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	5.15941453541388E-5	0.002
18	61442951	G	A	18	63775717	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	5.26423815498506E-5	0.002
18	61442951	G	C	18	63775717	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	4.87872098031522E-5	0.002
18	61442951	G	T	18	63775717	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	4.87872098031522E-5	0.002
18	61442952	T	A	18	63775718	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	5.32341439655945E-5	0.004
18	61442952	T	C	18	63775718	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	5.32341439655945E-5	0.004
18	61442952	T	G	18	63775718	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	5.32341439655945E-5	0.004
18	61442953	G	A	18	63775719	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.88530522465361E-4	0.002
18	61442953	G	C	18	63775719	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.88530522465361E-4	0.002
18	61442953	G	T	18	63775719	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.88530522465361E-4	0.002
18	61442954	A	C	18	63775720	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.53591935202096E-4	0.0
18	61442954	A	G	18	63775720	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.53591935202096E-4	0.0
18	61442954	A	T	18	63775720	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.28290728823224E-4	0.0
18	61442955	G	A	18	63775721	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.78864525412067E-5	0.0
18	61442955	G	C	18	63775721	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.78864525412067E-5	0.0
18	61442955	G	T	18	63775721	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.78864525412067E-5	0.0
18	61442956	T	A	18	63775722	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.80109675654916E-5	0.0
18	61442956	T	C	18	63775722	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.08291490468438E-5	0.016
18	61442956	T	G	18	63775722	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.80109675654916E-5	0.01
18	61442957	A	C	18	63775723	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.39457982047225E-5	0.0
18	61442957	A	G	18	63775723	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.39457982047225E-5	0.0
18	61442957	A	T	18	63775723	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.39457982047225E-5	0.0
18	61442958	C	A	18	63775724	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.71037690926497E-5	0.004
18	61442958	C	G	18	63775724	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.71037690926497E-5	0.0
18	61442958	C	T	18	63775724	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.51383879749987E-5	0.0
18	61445057	A	C	18	63777823	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.00220285109689569	0.1
18	61445057	A	G	18	63777823	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.00220285109689569	0.056
18	61445057	A	T	18	63777823	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.00220285109689569	0.09
18	61445058	A	C	18	63777824	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.542582390122206	0.728
18	61445058	A	G	18	63777824	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.542582390122206	0.728
18	61445058	A	T	18	63777824	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.792871466810701	0.716
18	61445059	G	A	18	63777825	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.914037148311657	0.73
18	61445059	G	C	18	63777825	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.822445538861235	0.604
18	61445059	G	T	18	63777825	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.822445538861235	0.638
18	61445060	G	A	18	63777826	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.985464553004571	0.85
18	61445060	G	C	18	63777826	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.985464553004571	0.856
18	61445060	G	T	18	63777826	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.985464553004571	0.852
18	61445061	T	A	18	63777827	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.833878140466525	0.754
18	61445061	T	C	18	63777827	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.833878140466525	0.764
18	61445061	T	G	18	63777827	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.833878140466525	0.766
18	61445062	A	C	18	63777828	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.154870439295154	0.512
18	61445062	A	G	18	63777828	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.167031886271497	0.53
18	61445062	A	T	18	63777828	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.255374117213338	0.496
18	61445063	A	C	18	63777829	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0980333975144165	0.462
18	61445063	A	G	18	63777829	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0980333975144165	0.412
18	61445063	A	T	18	63777829	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.255374117213338	0.476
18	61445064	A	C	18	63777830	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	7.91335385279169E-4	0.0
18	61445064	A	G	18	63777830	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	7.91335385279169E-4	0.0
18	61445064	A	T	18	63777830	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	7.15838005414123E-4	0.0
18	61445065	T	A	18	63777831	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0980333975144165	0.392
18	61445065	T	C	18	63777831	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0407791427453904	0.204
18	61445065	T	G	18	63777831	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0727662502125991	0.224
18	61445066	A	C	18	63777832	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.50014361262222E-4	0.016
18	61445066	A	G	18	63777832	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.50014361262222E-4	0.022
18	61445066	A	T	18	63777832	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.15928322694241E-4	0.002
18	61445067	C	A	18	63777833	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.68219155180855E-5	0.0
18	61445067	C	G	18	63777833	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.68219155180855E-5	0.0
18	61445067	C	T	18	63777833	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.68219155180855E-5	0.0
18	61445366	T	A	18	63778132	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	1.40940918270023E-4	0.0
18	61445366	T	C	18	63778132	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	7.54864014224924E-5	0.0
18	61445366	T	G	18	63778132	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	1.08916309252732E-4	0.0
18	61445367	A	C	18	63778133	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	3.01769565671828E-4	0.028
18	61445367	A	G	18	63778133	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	3.01769565671828E-4	0.028
18	61445367	A	T	18	63778133	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	2.07841674183357E-4	0.024
18	61445368	A	C	18	63778134	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	1.39634721695968E-4	0.002
18	61445368	A	G	18	63778134	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	1.39634721695968E-4	0.002
18	61445368	A	T	18	63778134	n	y	intronic	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	9.78315057298887E-5	0.002
18	61445369	G	A	18	63778135	n	y	intronic	SERPINB7	.	.	splicing	ENSG00000166396	.	.	3.93248123866459E-5	0.014
18	61445369	G	C	18	63778135	n	y	intronic	SERPINB7	.	.	splicing	ENSG00000166396	.	.	3.93248123866459E-5	0.014
18	61445369	G	T	18	63778135	n	y	intronic	SERPINB7	.	.	splicing	ENSG00000166396	.	.	3.93248123866459E-5	0.012
18	61445370	T	A	18	63778136	n	y	intronic	SERPINB7	.	.	splicing	ENSG00000166396	.	.	6.38113264713725E-5	0.002
18	61445370	T	C	18	63778136	n	y	intronic	SERPINB7	.	.	splicing	ENSG00000166396	.	.	6.38113264713725E-5	0.002
18	61445370	T	G	18	63778136	n	y	intronic	SERPINB7	.	.	splicing	ENSG00000166396	.	.	6.38113264713725E-5	0.002
18	61445371	A	C	18	63778137	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.69439264402225E-5	0.0
18	61445371	A	G	18	63778137	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.69439264402225E-5	0.0
18	61445371	A	T	18	63778137	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.69439264402225E-5	0.0
18	61445372	G	A	18	63778138	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.8840742393182E-5	0.0
18	61445372	G	C	18	63778138	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.8840742393182E-5	0.0
18	61445372	G	T	18	63778138	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.8840742393182E-5	0.0
18	61445373	G	A	18	63778139	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.58461283867531E-5	0.006
18	61445373	G	C	18	63778139	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.58461283867531E-5	0.006
18	61445373	G	T	18	63778139	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.58461283867531E-5	0.006
18	61445374	G	A	18	63778140	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.5641450458675E-4	0.058
18	61445374	G	C	18	63778140	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.5641450458675E-4	0.058
18	61445374	G	T	18	63778140	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.5641450458675E-4	0.058
18	61445375	A	C	18	63778141	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.07902708129146E-4	0.004
18	61445375	A	G	18	63778141	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.07902708129146E-4	0.004
18	61445375	A	T	18	63778141	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.44101454748109E-4	0.004
18	61445376	T	A	18	63778142	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.05918261028706E-4	0.0
18	61445376	T	C	18	63778142	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.9469183429777E-5	0.0
18	61445376	T	G	18	63778142	n	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.9469183429777E-5	0.0
18	61449577	A	C	18	63782343	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.48064695835003E-6	0.0
18	61449577	A	G	18	63782343	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.28374151094388E-5	0.022
18	61449577	A	T	18	63782343	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.25279927330413E-5	0.0
18	61449578	T	A	18	63782344	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0260419177512912	0.286
18	61449578	T	C	18	63782344	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.58476598348594E-4	0.008
18	61449578	T	G	18	63782344	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.995512924248557	0.892
18	61449579	T	A	18	63782345	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999757183619026	0.98
18	61449579	T	C	18	63782345	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	7.11485646809035E-5	0.0
18	61449579	T	G	18	63782345	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0170077425666894	0.29
18	61449580	G	A	18	63782346	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.0213099010795E-5	0.006
18	61449580	G	C	18	63782346	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.06041297183619E-5	0.002
18	61449580	G	T	18	63782346	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.14982599629838E-5	0.004
18	61449581	T	A	18	63782347	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0216018375109725	0.138
18	61449581	T	C	18	63782347	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.93279056163225E-5	0.0
18	61449581	T	G	18	63782347	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00251190608212963	0.096
18	61449582	C	A	18	63782348	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.24370426198273E-4	0.032
18	61449582	C	G	18	63782348	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.23464019651807E-4	0.022
18	61449582	C	T	18	63782348	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.57328627189196E-5	0.0
18	61449583	C	A	18	63782349	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0066960089854182	0.126
18	61449583	C	G	18	63782349	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00489960072513932	0.146
18	61449583	C	T	18	63782349	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.42628379200581E-5	0.0
18	61449584	T	A	18	63782350	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.138121879399604	0.366
18	61449584	T	C	18	63782350	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.3003161527913E-5	0.008
18	61449584	T	G	18	63782350	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.147953444947688	0.36
18	61449585	C	A	18	63782351	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.38684278678002E-5	0.0
18	61449585	C	G	18	63782351	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.53693184925092E-5	0.0
18	61449585	C	T	18	63782351	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.61674241156973E-5	0.004
18	61449586	T	A	18	63782352	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0186011939639414	0.172
18	61449586	T	C	18	63782352	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.62611877608365E-5	0.0
18	61449586	T	G	18	63782352	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.422270601312738	0.564
18	61449587	A	C	18	63782353	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999978952611685	0.926
18	61449587	A	G	18	63782353	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999978952611685	0.926
18	61449587	A	T	18	63782353	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999988247793601	0.928
18	61449588	G	A	18	63782354	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999949496871441	0.942
18	61449588	G	C	18	63782354	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999949496871441	0.946
18	61449588	G	T	18	63782354	y	y	splicing	SERPINB7	.	.	splicing	ENSG00000166396	.	.	0.999949496871441	0.942
18	61449589	G	A	18	63782355	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.00404072509303422	0.144
18	61449589	G	C	18	63782355	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.126610098351422	0.544
18	61449589	G	T	18	63782355	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	0.725363323935575	0.596
18	61449590	C	A	18	63782356	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	8.59482844888186E-5	0.008
18	61449590	C	G	18	63782356	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	6.56601179564273E-5	0.014
18	61449590	C	T	18	63782356	y	y	UTR5	SERPINB7	.	.	UTR5	ENSG00000166396	.	.	1.01120022017853E-4	0.006
18	61449772	A	C	18	63782538	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon2:c.A166C:p.K56Q;SERPINB7:NM_001261830:exon2:c.A166C:p.K56Q;SERPINB7:NM_001261831:exon2:c.A166C:p.K56Q;SERPINB7:NM_003784:exon2:c.A166C:p.K56Q;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon2:c.A166C:p.K56Q;ENSG00000166396:ENST00000540675:exon2:c.A166C:p.K56Q;ENSG00000166396:ENST00000425392:exon2:c.A166C:p.K56Q;ENSG00000166396:ENST00000431370:exon2:c.A166C:p.K56Q;ENSG00000166396:ENST00000447428:exon2:c.A166C:p.K56Q;ENSG00000166396:ENST00000546027:exon2:c.A166C:p.K56Q;ENSG00000166396:ENST00000398019:exon2:c.A166C:p.K56Q;	7.79969262532609E-4	0.154
18	61449772	A	G	18	63782538	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon2:c.A166G:p.K56E;SERPINB7:NM_001261830:exon2:c.A166G:p.K56E;SERPINB7:NM_001261831:exon2:c.A166G:p.K56E;SERPINB7:NM_003784:exon2:c.A166G:p.K56E;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon2:c.A166G:p.K56E;ENSG00000166396:ENST00000540675:exon2:c.A166G:p.K56E;ENSG00000166396:ENST00000425392:exon2:c.A166G:p.K56E;ENSG00000166396:ENST00000431370:exon2:c.A166G:p.K56E;ENSG00000166396:ENST00000447428:exon2:c.A166G:p.K56E;ENSG00000166396:ENST00000546027:exon2:c.A166G:p.K56E;ENSG00000166396:ENST00000398019:exon2:c.A166G:p.K56E;	2.43803943645018E-4	0.096
18	61449772	A	T	18	63782538	y	y	exonic	SERPINB7	stopgain SNV	SERPINB7:NM_001040147:exon2:c.A166T:p.K56X;SERPINB7:NM_001261830:exon2:c.A166T:p.K56X;SERPINB7:NM_001261831:exon2:c.A166T:p.K56X;SERPINB7:NM_003784:exon2:c.A166T:p.K56X;	exonic	ENSG00000166396	stopgain SNV	ENSG00000166396:ENST00000336429:exon2:c.A166T:p.K56X;ENSG00000166396:ENST00000540675:exon2:c.A166T:p.K56X;ENSG00000166396:ENST00000425392:exon2:c.A166T:p.K56X;ENSG00000166396:ENST00000431370:exon2:c.A166T:p.K56X;ENSG00000166396:ENST00000447428:exon2:c.A166T:p.K56X;ENSG00000166396:ENST00000546027:exon2:c.A166T:p.K56X;ENSG00000166396:ENST00000398019:exon2:c.A166T:p.K56X;	0.0748531184121897	0.55
18	61449773	A	C	18	63782539	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon2:c.A167C:p.K56T;SERPINB7:NM_001261830:exon2:c.A167C:p.K56T;SERPINB7:NM_001261831:exon2:c.A167C:p.K56T;SERPINB7:NM_003784:exon2:c.A167C:p.K56T;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon2:c.A167C:p.K56T;ENSG00000166396:ENST00000540675:exon2:c.A167C:p.K56T;ENSG00000166396:ENST00000425392:exon2:c.A167C:p.K56T;ENSG00000166396:ENST00000431370:exon2:c.A167C:p.K56T;ENSG00000166396:ENST00000447428:exon2:c.A167C:p.K56T;ENSG00000166396:ENST00000546027:exon2:c.A167C:p.K56T;ENSG00000166396:ENST00000398019:exon2:c.A167C:p.K56T;	0.995924806923745	0.94
18	61449773	A	G	18	63782539	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon2:c.A167G:p.K56R;SERPINB7:NM_001261830:exon2:c.A167G:p.K56R;SERPINB7:NM_001261831:exon2:c.A167G:p.K56R;SERPINB7:NM_003784:exon2:c.A167G:p.K56R;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon2:c.A167G:p.K56R;ENSG00000166396:ENST00000540675:exon2:c.A167G:p.K56R;ENSG00000166396:ENST00000425392:exon2:c.A167G:p.K56R;ENSG00000166396:ENST00000431370:exon2:c.A167G:p.K56R;ENSG00000166396:ENST00000447428:exon2:c.A167G:p.K56R;ENSG00000166396:ENST00000546027:exon2:c.A167G:p.K56R;ENSG00000166396:ENST00000398019:exon2:c.A167G:p.K56R;	0.999837534412041	0.97
18	61449773	A	T	18	63782539	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon2:c.A167T:p.K56M;SERPINB7:NM_001261830:exon2:c.A167T:p.K56M;SERPINB7:NM_001261831:exon2:c.A167T:p.K56M;SERPINB7:NM_003784:exon2:c.A167T:p.K56M;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon2:c.A167T:p.K56M;ENSG00000166396:ENST00000540675:exon2:c.A167T:p.K56M;ENSG00000166396:ENST00000425392:exon2:c.A167T:p.K56M;ENSG00000166396:ENST00000431370:exon2:c.A167T:p.K56M;ENSG00000166396:ENST00000447428:exon2:c.A167T:p.K56M;ENSG00000166396:ENST00000546027:exon2:c.A167T:p.K56M;ENSG00000166396:ENST00000398019:exon2:c.A167T:p.K56M;	0.99974640350112	0.984
18	61449774	G	A	18	63782540	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon2:c.G168A:p.K56K;SERPINB7:NM_001261830:exon2:c.G168A:p.K56K;SERPINB7:NM_001261831:exon2:c.G168A:p.K56K;SERPINB7:NM_003784:exon2:c.G168A:p.K56K;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon2:c.G168A:p.K56K;ENSG00000166396:ENST00000540675:exon2:c.G168A:p.K56K;ENSG00000166396:ENST00000425392:exon2:c.G168A:p.K56K;ENSG00000166396:ENST00000431370:exon2:c.G168A:p.K56K;ENSG00000166396:ENST00000447428:exon2:c.G168A:p.K56K;ENSG00000166396:ENST00000546027:exon2:c.G168A:p.K56K;ENSG00000166396:ENST00000398019:exon2:c.G168A:p.K56K;	0.999966843061668	0.98
18	61449774	G	C	18	63782540	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon2:c.G168C:p.K56N;SERPINB7:NM_001261830:exon2:c.G168C:p.K56N;SERPINB7:NM_001261831:exon2:c.G168C:p.K56N;SERPINB7:NM_003784:exon2:c.G168C:p.K56N;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon2:c.G168C:p.K56N;ENSG00000166396:ENST00000540675:exon2:c.G168C:p.K56N;ENSG00000166396:ENST00000425392:exon2:c.G168C:p.K56N;ENSG00000166396:ENST00000431370:exon2:c.G168C:p.K56N;ENSG00000166396:ENST00000447428:exon2:c.G168C:p.K56N;ENSG00000166396:ENST00000546027:exon2:c.G168C:p.K56N;ENSG00000166396:ENST00000398019:exon2:c.G168C:p.K56N;	0.999995682755452	1.0
18	61449774	G	T	18	63782540	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon2:c.G168T:p.K56N;SERPINB7:NM_001261830:exon2:c.G168T:p.K56N;SERPINB7:NM_001261831:exon2:c.G168T:p.K56N;SERPINB7:NM_003784:exon2:c.G168T:p.K56N;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon2:c.G168T:p.K56N;ENSG00000166396:ENST00000540675:exon2:c.G168T:p.K56N;ENSG00000166396:ENST00000425392:exon2:c.G168T:p.K56N;ENSG00000166396:ENST00000431370:exon2:c.G168T:p.K56N;ENSG00000166396:ENST00000447428:exon2:c.G168T:p.K56N;ENSG00000166396:ENST00000546027:exon2:c.G168T:p.K56N;ENSG00000166396:ENST00000398019:exon2:c.G168T:p.K56N;	0.99998628934368	0.996
18	61449775	G	A	18	63782541	y	y	splicing	SERPINB7(NM_001040147:exon2:c.168+1G>A;NM_003784:exon2:c.168+1G>A;NM_001261831:exon2:c.168+1G>A;NM_001261830:exon2:c.168+1G>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon2:c.168+1G>A;ENST00000336429:exon2:c.168+1G>A;ENST00000398019:exon2:c.168+1G>A;ENST00000540675:exon2:c.168+1G>A;ENST00000447428:exon2:c.168+1G>A;ENST00000546027:exon2:c.168+1G>A;ENST00000431370:exon2:c.168+1G>A)	.	.	0.999990361384395	0.928
18	61449775	G	C	18	63782541	y	y	splicing	SERPINB7(NM_001040147:exon2:c.168+1G>C;NM_003784:exon2:c.168+1G>C;NM_001261831:exon2:c.168+1G>C;NM_001261830:exon2:c.168+1G>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon2:c.168+1G>C;ENST00000336429:exon2:c.168+1G>C;ENST00000398019:exon2:c.168+1G>C;ENST00000540675:exon2:c.168+1G>C;ENST00000447428:exon2:c.168+1G>C;ENST00000546027:exon2:c.168+1G>C;ENST00000431370:exon2:c.168+1G>C)	.	.	0.999990361384395	0.928
18	61449775	G	T	18	63782541	y	y	splicing	SERPINB7(NM_001040147:exon2:c.168+1G>T;NM_003784:exon2:c.168+1G>T;NM_001261831:exon2:c.168+1G>T;NM_001261830:exon2:c.168+1G>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon2:c.168+1G>T;ENST00000336429:exon2:c.168+1G>T;ENST00000398019:exon2:c.168+1G>T;ENST00000540675:exon2:c.168+1G>T;ENST00000447428:exon2:c.168+1G>T;ENST00000546027:exon2:c.168+1G>T;ENST00000431370:exon2:c.168+1G>T)	.	.	0.999990361384395	0.928
18	61449776	T	A	18	63782542	y	y	splicing	SERPINB7(NM_001040147:exon2:c.168+2T>A;NM_003784:exon2:c.168+2T>A;NM_001261831:exon2:c.168+2T>A;NM_001261830:exon2:c.168+2T>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon2:c.168+2T>A;ENST00000336429:exon2:c.168+2T>A;ENST00000398019:exon2:c.168+2T>A;ENST00000540675:exon2:c.168+2T>A;ENST00000447428:exon2:c.168+2T>A;ENST00000546027:exon2:c.168+2T>A;ENST00000431370:exon2:c.168+2T>A)	.	.	0.999992446697775	0.93
18	61449776	T	C	18	63782542	y	y	splicing	SERPINB7(NM_001040147:exon2:c.168+2T>C;NM_003784:exon2:c.168+2T>C;NM_001261831:exon2:c.168+2T>C;NM_001261830:exon2:c.168+2T>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon2:c.168+2T>C;ENST00000336429:exon2:c.168+2T>C;ENST00000398019:exon2:c.168+2T>C;ENST00000540675:exon2:c.168+2T>C;ENST00000447428:exon2:c.168+2T>C;ENST00000546027:exon2:c.168+2T>C;ENST00000431370:exon2:c.168+2T>C)	.	.	0.993808943985639	0.632
18	61449776	T	G	18	63782542	y	y	splicing	SERPINB7(NM_001040147:exon2:c.168+2T>G;NM_003784:exon2:c.168+2T>G;NM_001261831:exon2:c.168+2T>G;NM_001261830:exon2:c.168+2T>G)	.	.	splicing	ENSG00000166396(ENST00000425392:exon2:c.168+2T>G;ENST00000336429:exon2:c.168+2T>G;ENST00000398019:exon2:c.168+2T>G;ENST00000540675:exon2:c.168+2T>G;ENST00000447428:exon2:c.168+2T>G;ENST00000546027:exon2:c.168+2T>G;ENST00000431370:exon2:c.168+2T>G)	.	.	0.999992446697775	0.93
18	61449777	C	A	18	63782543	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.16084375123532E-4	0.054
18	61449777	C	G	18	63782543	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.56903975509468E-4	0.046
18	61449777	C	T	18	63782543	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.13998506884119E-4	0.016
18	61449778	A	C	18	63782544	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.986229493470506	0.588
18	61449778	A	G	18	63782544	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.989119390637108	0.604
18	61449778	A	T	18	63782544	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.995924708824734	0.688
18	61449779	G	A	18	63782545	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.997898469056093	0.814
18	61449779	G	C	18	63782545	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.992860063886442	0.746
18	61449779	G	T	18	63782545	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.996362939473437	0.752
18	61449780	T	A	18	63782546	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.265664697764857	0.366
18	61449780	T	C	18	63782546	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.214941643147425	0.382
18	61449780	T	G	18	63782546	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.237006977089342	0.41
18	61449781	C	A	18	63782547	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.65022250432764E-4	0.0
18	61449781	C	G	18	63782547	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.95490473054458E-5	0.002
18	61449781	C	T	18	63782547	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.22804867598677E-4	0.016
18	61449782	T	A	18	63782548	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.1411768061359E-4	0.1
18	61449782	T	C	18	63782548	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.91348473311604E-4	0.006
18	61449782	T	G	18	63782548	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.18712167901813E-4	0.004
18	61459615	C	A	18	63792381	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.03311002880363E-4	0.044
18	61459615	C	G	18	63792381	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.31893755472763E-5	0.012
18	61459615	C	T	18	63792381	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.84596801838551E-5	0.0
18	61459616	C	A	18	63792382	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0227948128822154	0.216
18	61459616	C	G	18	63792382	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00289127948793327	0.146
18	61459616	C	T	18	63792382	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.38152270503462E-4	0.0
18	61459617	C	A	18	63792383	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.30836519912356E-4	0.008
18	61459617	C	G	18	63792383	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.10540255342109E-4	0.016
18	61459617	C	T	18	63792383	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.91683211707006E-5	0.0
18	61459618	T	A	18	63792384	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999854805781589	0.95
18	61459618	T	C	18	63792384	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.79516210934041E-5	0.004
18	61459618	T	G	18	63792384	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0353115447191541	0.338
18	61459619	G	A	18	63792385	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.69155966215227E-4	0.004
18	61459619	G	C	18	63792385	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.84835755358442E-5	0.0
18	61459619	G	T	18	63792385	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.48862181784001E-5	0.0
18	61459620	T	A	18	63792386	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0627065821782415	0.184
18	61459620	T	C	18	63792386	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.56258460963013E-5	0.022
18	61459620	T	G	18	63792386	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00813453013272432	0.104
18	61459621	T	A	18	63792387	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00874889517221653	0.31
18	61459621	T	C	18	63792387	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.97005239219044E-6	0.01
18	61459621	T	G	18	63792387	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00209797194474009	0.328
18	61459622	T	A	18	63792388	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.36068667188825	0.506
18	61459622	T	C	18	63792388	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0055525769453943	0.08
18	61459622	T	G	18	63792388	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.267574366077932	0.504
18	61459623	A	C	18	63792389	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.04555402179008E-4	0.0
18	61459623	A	G	18	63792389	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.08952251969956E-4	0.006
18	61459623	A	T	18	63792389	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.41572133128439E-5	0.0
18	61459624	C	A	18	63792390	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.534022924788994	0.598
18	61459624	C	G	18	63792390	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999484943891372	0.912
18	61459624	C	T	18	63792390	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	7.61312953707746E-4	0.068
18	61459625	A	C	18	63792391	y	y	splicing	SERPINB7(NM_001040147:exon3:c.169-2A>C;NM_003784:exon3:c.169-2A>C;NM_001261830:exon3:c.169-2A>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.169-2A>C;ENST00000336429:exon3:c.169-2A>C;ENST00000398019:exon3:c.169-2A>C;ENST00000447428:exon3:c.169-2A>C;ENST00000546027:exon3:c.169-2A>C;ENST00000431370:exon3:c.169-2A>C)	.	.	0.999969255906173	0.862
18	61459625	A	G	18	63792391	y	y	splicing	SERPINB7(NM_001040147:exon3:c.169-2A>G;NM_003784:exon3:c.169-2A>G;NM_001261830:exon3:c.169-2A>G)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.169-2A>G;ENST00000336429:exon3:c.169-2A>G;ENST00000398019:exon3:c.169-2A>G;ENST00000447428:exon3:c.169-2A>G;ENST00000546027:exon3:c.169-2A>G;ENST00000431370:exon3:c.169-2A>G)	.	.	0.999969255906173	0.862
18	61459625	A	T	18	63792391	y	y	splicing	SERPINB7(NM_001040147:exon3:c.169-2A>T;NM_003784:exon3:c.169-2A>T;NM_001261830:exon3:c.169-2A>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.169-2A>T;ENST00000336429:exon3:c.169-2A>T;ENST00000398019:exon3:c.169-2A>T;ENST00000447428:exon3:c.169-2A>T;ENST00000546027:exon3:c.169-2A>T;ENST00000431370:exon3:c.169-2A>T)	.	.	0.999972155025474	0.85
18	61459626	G	A	18	63792392	y	y	splicing	SERPINB7(NM_001040147:exon3:c.169-1G>A;NM_003784:exon3:c.169-1G>A;NM_001261830:exon3:c.169-1G>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.169-1G>A;ENST00000336429:exon3:c.169-1G>A;ENST00000398019:exon3:c.169-1G>A;ENST00000447428:exon3:c.169-1G>A;ENST00000546027:exon3:c.169-1G>A;ENST00000431370:exon3:c.169-1G>A)	.	.	0.999977162774916	0.88
18	61459626	G	C	18	63792392	y	y	splicing	SERPINB7(NM_001040147:exon3:c.169-1G>C;NM_003784:exon3:c.169-1G>C;NM_001261830:exon3:c.169-1G>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.169-1G>C;ENST00000336429:exon3:c.169-1G>C;ENST00000398019:exon3:c.169-1G>C;ENST00000447428:exon3:c.169-1G>C;ENST00000546027:exon3:c.169-1G>C;ENST00000431370:exon3:c.169-1G>C)	.	.	0.999974785031454	0.874
18	61459626	G	T	18	63792392	y	y	splicing	SERPINB7(NM_001040147:exon3:c.169-1G>T;NM_003784:exon3:c.169-1G>T;NM_001261830:exon3:c.169-1G>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.169-1G>T;ENST00000336429:exon3:c.169-1G>T;ENST00000398019:exon3:c.169-1G>T;ENST00000447428:exon3:c.169-1G>T;ENST00000546027:exon3:c.169-1G>T;ENST00000431370:exon3:c.169-1G>T)	.	.	0.999974785031454	0.87
18	61459627	T	A	18	63792393	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.T169A:p.L57M;SERPINB7:NM_001261830:exon3:c.T169A:p.L57M;SERPINB7:NM_003784:exon3:c.T169A:p.L57M;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.T169A:p.L57M;ENSG00000166396:ENST00000425392:exon3:c.T169A:p.L57M;ENSG00000166396:ENST00000431370:exon3:c.T169A:p.L57M;ENSG00000166396:ENST00000447428:exon3:c.T169A:p.L57M;ENSG00000166396:ENST00000546027:exon3:c.T169A:p.L57M;ENSG00000166396:ENST00000398019:exon3:c.T169A:p.L57M;	9.19005578649578E-6	0.01
18	61459627	T	C	18	63792393	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon3:c.T169C:p.L57L;SERPINB7:NM_001261830:exon3:c.T169C:p.L57L;SERPINB7:NM_003784:exon3:c.T169C:p.L57L;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.T169C:p.L57L;ENSG00000166396:ENST00000425392:exon3:c.T169C:p.L57L;ENSG00000166396:ENST00000431370:exon3:c.T169C:p.L57L;ENSG00000166396:ENST00000447428:exon3:c.T169C:p.L57L;ENSG00000166396:ENST00000546027:exon3:c.T169C:p.L57L;ENSG00000166396:ENST00000398019:exon3:c.T169C:p.L57L;	5.42363912447056E-5	0.026
18	61459627	T	G	18	63792393	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.T169G:p.L57V;SERPINB7:NM_001261830:exon3:c.T169G:p.L57V;SERPINB7:NM_003784:exon3:c.T169G:p.L57V;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.T169G:p.L57V;ENSG00000166396:ENST00000425392:exon3:c.T169G:p.L57V;ENSG00000166396:ENST00000431370:exon3:c.T169G:p.L57V;ENSG00000166396:ENST00000447428:exon3:c.T169G:p.L57V;ENSG00000166396:ENST00000546027:exon3:c.T169G:p.L57V;ENSG00000166396:ENST00000398019:exon3:c.T169G:p.L57V;	1.88458120407469E-5	0.064
18	61459628	T	A	18	63792394	y	y	exonic	SERPINB7	stopgain SNV	SERPINB7:NM_001040147:exon3:c.T170A:p.L57X;SERPINB7:NM_001261830:exon3:c.T170A:p.L57X;SERPINB7:NM_003784:exon3:c.T170A:p.L57X;	exonic	ENSG00000166396	stopgain SNV	ENSG00000166396:ENST00000336429:exon3:c.T170A:p.L57X;ENSG00000166396:ENST00000425392:exon3:c.T170A:p.L57X;ENSG00000166396:ENST00000431370:exon3:c.T170A:p.L57X;ENSG00000166396:ENST00000447428:exon3:c.T170A:p.L57X;ENSG00000166396:ENST00000546027:exon3:c.T170A:p.L57X;ENSG00000166396:ENST00000398019:exon3:c.T170A:p.L57X;	5.9347239306499E-4	0.286
18	61459628	T	C	18	63792394	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.T170C:p.L57S;SERPINB7:NM_001261830:exon3:c.T170C:p.L57S;SERPINB7:NM_003784:exon3:c.T170C:p.L57S;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.T170C:p.L57S;ENSG00000166396:ENST00000425392:exon3:c.T170C:p.L57S;ENSG00000166396:ENST00000431370:exon3:c.T170C:p.L57S;ENSG00000166396:ENST00000447428:exon3:c.T170C:p.L57S;ENSG00000166396:ENST00000546027:exon3:c.T170C:p.L57S;ENSG00000166396:ENST00000398019:exon3:c.T170C:p.L57S;	0.00673009906829075	0.234
18	61459628	T	G	18	63792394	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.T170G:p.L57W;SERPINB7:NM_001261830:exon3:c.T170G:p.L57W;SERPINB7:NM_003784:exon3:c.T170G:p.L57W;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.T170G:p.L57W;ENSG00000166396:ENST00000425392:exon3:c.T170G:p.L57W;ENSG00000166396:ENST00000431370:exon3:c.T170G:p.L57W;ENSG00000166396:ENST00000447428:exon3:c.T170G:p.L57W;ENSG00000166396:ENST00000546027:exon3:c.T170G:p.L57W;ENSG00000166396:ENST00000398019:exon3:c.T170G:p.L57W;	0.00330325281142343	0.116
18	61459675	C	A	18	63792441	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.C217A:p.Q73K;SERPINB7:NM_001261830:exon3:c.C217A:p.Q73K;SERPINB7:NM_003784:exon3:c.C217A:p.Q73K;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.C217A:p.Q73K;ENSG00000166396:ENST00000425392:exon3:c.C217A:p.Q73K;ENSG00000166396:ENST00000431370:exon3:c.C217A:p.Q73K;ENSG00000166396:ENST00000447428:exon3:c.C217A:p.Q73K;ENSG00000166396:ENST00000546027:exon3:c.C217A:p.Q73K;ENSG00000166396:ENST00000398019:exon3:c.C217A:p.Q73K;	0.00662108764846316	0.194
18	61459675	C	G	18	63792441	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.C217G:p.Q73E;SERPINB7:NM_001261830:exon3:c.C217G:p.Q73E;SERPINB7:NM_003784:exon3:c.C217G:p.Q73E;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.C217G:p.Q73E;ENSG00000166396:ENST00000425392:exon3:c.C217G:p.Q73E;ENSG00000166396:ENST00000431370:exon3:c.C217G:p.Q73E;ENSG00000166396:ENST00000447428:exon3:c.C217G:p.Q73E;ENSG00000166396:ENST00000546027:exon3:c.C217G:p.Q73E;ENSG00000166396:ENST00000398019:exon3:c.C217G:p.Q73E;	0.00444919126124949	0.128
18	61459675	C	T	18	63792441	y	y	exonic	SERPINB7	stopgain SNV	SERPINB7:NM_001040147:exon3:c.C217T:p.Q73X;SERPINB7:NM_001261830:exon3:c.C217T:p.Q73X;SERPINB7:NM_003784:exon3:c.C217T:p.Q73X;	exonic	ENSG00000166396	stopgain SNV	ENSG00000166396:ENST00000336429:exon3:c.C217T:p.Q73X;ENSG00000166396:ENST00000425392:exon3:c.C217T:p.Q73X;ENSG00000166396:ENST00000431370:exon3:c.C217T:p.Q73X;ENSG00000166396:ENST00000447428:exon3:c.C217T:p.Q73X;ENSG00000166396:ENST00000546027:exon3:c.C217T:p.Q73X;ENSG00000166396:ENST00000398019:exon3:c.C217T:p.Q73X;	0.995877637616871	0.86
18	61459676	A	C	18	63792442	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.A218C:p.Q73P;SERPINB7:NM_001261830:exon3:c.A218C:p.Q73P;SERPINB7:NM_003784:exon3:c.A218C:p.Q73P;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.A218C:p.Q73P;ENSG00000166396:ENST00000425392:exon3:c.A218C:p.Q73P;ENSG00000166396:ENST00000431370:exon3:c.A218C:p.Q73P;ENSG00000166396:ENST00000447428:exon3:c.A218C:p.Q73P;ENSG00000166396:ENST00000546027:exon3:c.A218C:p.Q73P;ENSG00000166396:ENST00000398019:exon3:c.A218C:p.Q73P;	0.990260696153058	0.914
18	61459676	A	G	18	63792442	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.A218G:p.Q73R;SERPINB7:NM_001261830:exon3:c.A218G:p.Q73R;SERPINB7:NM_003784:exon3:c.A218G:p.Q73R;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.A218G:p.Q73R;ENSG00000166396:ENST00000425392:exon3:c.A218G:p.Q73R;ENSG00000166396:ENST00000431370:exon3:c.A218G:p.Q73R;ENSG00000166396:ENST00000447428:exon3:c.A218G:p.Q73R;ENSG00000166396:ENST00000546027:exon3:c.A218G:p.Q73R;ENSG00000166396:ENST00000398019:exon3:c.A218G:p.Q73R;	0.998695579274663	0.988
18	61459676	A	T	18	63792442	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.A218T:p.Q73L;SERPINB7:NM_001261830:exon3:c.A218T:p.Q73L;SERPINB7:NM_003784:exon3:c.A218T:p.Q73L;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.A218T:p.Q73L;ENSG00000166396:ENST00000425392:exon3:c.A218T:p.Q73L;ENSG00000166396:ENST00000431370:exon3:c.A218T:p.Q73L;ENSG00000166396:ENST00000447428:exon3:c.A218T:p.Q73L;ENSG00000166396:ENST00000546027:exon3:c.A218T:p.Q73L;ENSG00000166396:ENST00000398019:exon3:c.A218T:p.Q73L;	0.998984772047279	0.982
18	61459677	G	A	18	63792443	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon3:c.G219A:p.Q73Q;SERPINB7:NM_001261830:exon3:c.G219A:p.Q73Q;SERPINB7:NM_003784:exon3:c.G219A:p.Q73Q;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.G219A:p.Q73Q;ENSG00000166396:ENST00000425392:exon3:c.G219A:p.Q73Q;ENSG00000166396:ENST00000431370:exon3:c.G219A:p.Q73Q;ENSG00000166396:ENST00000447428:exon3:c.G219A:p.Q73Q;ENSG00000166396:ENST00000546027:exon3:c.G219A:p.Q73Q;ENSG00000166396:ENST00000398019:exon3:c.G219A:p.Q73Q;	0.999926710170087	0.98
18	61459677	G	C	18	63792443	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.G219C:p.Q73H;SERPINB7:NM_001261830:exon3:c.G219C:p.Q73H;SERPINB7:NM_003784:exon3:c.G219C:p.Q73H;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.G219C:p.Q73H;ENSG00000166396:ENST00000425392:exon3:c.G219C:p.Q73H;ENSG00000166396:ENST00000431370:exon3:c.G219C:p.Q73H;ENSG00000166396:ENST00000447428:exon3:c.G219C:p.Q73H;ENSG00000166396:ENST00000546027:exon3:c.G219C:p.Q73H;ENSG00000166396:ENST00000398019:exon3:c.G219C:p.Q73H;	0.99999733851726	1.0
18	61459677	G	T	18	63792443	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon3:c.G219T:p.Q73H;SERPINB7:NM_001261830:exon3:c.G219T:p.Q73H;SERPINB7:NM_003784:exon3:c.G219T:p.Q73H;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon3:c.G219T:p.Q73H;ENSG00000166396:ENST00000425392:exon3:c.G219T:p.Q73H;ENSG00000166396:ENST00000431370:exon3:c.G219T:p.Q73H;ENSG00000166396:ENST00000447428:exon3:c.G219T:p.Q73H;ENSG00000166396:ENST00000546027:exon3:c.G219T:p.Q73H;ENSG00000166396:ENST00000398019:exon3:c.G219T:p.Q73H;	0.999990237023714	0.992
18	61459678	G	A	18	63792444	y	y	splicing	SERPINB7(NM_001040147:exon3:c.219+1G>A;NM_003784:exon3:c.219+1G>A;NM_001261830:exon3:c.219+1G>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.219+1G>A;ENST00000336429:exon3:c.219+1G>A;ENST00000398019:exon3:c.219+1G>A;ENST00000447428:exon3:c.219+1G>A;ENST00000546027:exon3:c.219+1G>A;ENST00000431370:exon3:c.219+1G>A)	.	.	0.99995545544995	0.944
18	61459678	G	C	18	63792444	y	y	splicing	SERPINB7(NM_001040147:exon3:c.219+1G>C;NM_003784:exon3:c.219+1G>C;NM_001261830:exon3:c.219+1G>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.219+1G>C;ENST00000336429:exon3:c.219+1G>C;ENST00000398019:exon3:c.219+1G>C;ENST00000447428:exon3:c.219+1G>C;ENST00000546027:exon3:c.219+1G>C;ENST00000431370:exon3:c.219+1G>C)	.	.	0.99995545544995	0.948
18	61459678	G	T	18	63792444	y	y	splicing	SERPINB7(NM_001040147:exon3:c.219+1G>T;NM_003784:exon3:c.219+1G>T;NM_001261830:exon3:c.219+1G>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.219+1G>T;ENST00000336429:exon3:c.219+1G>T;ENST00000398019:exon3:c.219+1G>T;ENST00000447428:exon3:c.219+1G>T;ENST00000546027:exon3:c.219+1G>T;ENST00000431370:exon3:c.219+1G>T)	.	.	0.99995545544995	0.948
18	61459679	T	A	18	63792445	y	y	splicing	SERPINB7(NM_001040147:exon3:c.219+2T>A;NM_003784:exon3:c.219+2T>A;NM_001261830:exon3:c.219+2T>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.219+2T>A;ENST00000336429:exon3:c.219+2T>A;ENST00000398019:exon3:c.219+2T>A;ENST00000447428:exon3:c.219+2T>A;ENST00000546027:exon3:c.219+2T>A;ENST00000431370:exon3:c.219+2T>A)	.	.	0.99994568797423	0.946
18	61459679	T	C	18	63792445	y	y	splicing	SERPINB7(NM_001040147:exon3:c.219+2T>C;NM_003784:exon3:c.219+2T>C;NM_001261830:exon3:c.219+2T>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.219+2T>C;ENST00000336429:exon3:c.219+2T>C;ENST00000398019:exon3:c.219+2T>C;ENST00000447428:exon3:c.219+2T>C;ENST00000546027:exon3:c.219+2T>C;ENST00000431370:exon3:c.219+2T>C)	.	.	0.952527091078767	0.716
18	61459679	T	G	18	63792445	y	y	splicing	SERPINB7(NM_001040147:exon3:c.219+2T>G;NM_003784:exon3:c.219+2T>G;NM_001261830:exon3:c.219+2T>G)	.	.	splicing	ENSG00000166396(ENST00000425392:exon3:c.219+2T>G;ENST00000336429:exon3:c.219+2T>G;ENST00000398019:exon3:c.219+2T>G;ENST00000447428:exon3:c.219+2T>G;ENST00000546027:exon3:c.219+2T>G;ENST00000431370:exon3:c.219+2T>G)	.	.	0.99994568797423	0.946
18	61459680	A	C	18	63792446	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999818921703694	0.942
18	61459680	A	G	18	63792446	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.944681923491899	0.658
18	61459680	A	T	18	63792446	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.998818044390615	0.916
18	61459681	A	C	18	63792447	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.659997311538661	0.508
18	61459681	A	G	18	63792447	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.383049878731176	0.508
18	61459681	A	T	18	63792447	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.769676925087779	0.504
18	61459682	A	C	18	63792448	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.08842420682975E-4	0.02
18	61459682	A	G	18	63792448	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.20467971164397E-4	0.048
18	61459682	A	T	18	63792448	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.0413164075661E-4	0.012
18	61459683	G	A	18	63792449	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.79457448220427E-4	0.018
18	61459683	G	C	18	63792449	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.84948967844874E-4	0.074
18	61459683	G	T	18	63792449	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.22699950870985E-4	0.004
18	61459684	A	C	18	63792450	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.5589581658534E-4	0.0
18	61459684	A	G	18	63792450	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.17033420092634E-4	0.014
18	61459684	A	T	18	63792450	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	7.81486175158717E-4	0.04
18	61459685	C	A	18	63792451	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.56227612537221E-5	0.0
18	61459685	C	G	18	63792451	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.55826038199403E-4	0.0
18	61459685	C	T	18	63792451	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.55826038199403E-4	0.0
18	61460383	T	A	18	63793149	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0111179281977619	0.302
18	61460383	T	C	18	63793149	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.29284195752798E-4	0.042
18	61460383	T	G	18	63793149	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00603742927243377	0.344
18	61460384	T	A	18	63793150	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.434992437570029	0.544
18	61460384	T	C	18	63793150	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.010337142117583	0.194
18	61460384	T	G	18	63793150	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.124960416266487	0.42
18	61460385	T	A	18	63793151	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.112310808567125	0.378
18	61460385	T	C	18	63793151	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.58871111440931E-5	0.02
18	61460385	T	G	18	63793151	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.180823694262768	0.418
18	61460386	T	A	18	63793152	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.001446572789392	0.124
18	61460386	T	C	18	63793152	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.32196826264235E-4	0.028
18	61460386	T	G	18	63793152	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00103135057237568	0.146
18	61460387	A	C	18	63793153	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.1990364721285E-5	0.022
18	61460387	A	G	18	63793153	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.3323187790032E-4	0.022
18	61460387	A	T	18	63793153	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.63040176260053E-5	0.012
18	61460388	A	C	18	63793154	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.24738176110318E-5	0.04
18	61460388	A	G	18	63793154	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.998738658345881	0.96
18	61460388	A	T	18	63793154	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.24548752048081E-4	0.04
18	61460389	T	A	18	63793155	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00417087376432004	0.398
18	61460389	T	C	18	63793155	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.01218250720077E-5	0.02
18	61460389	T	G	18	63793155	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999698866896817	0.954
18	61460390	A	C	18	63793156	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.14742469107414E-5	0.012
18	61460390	A	G	18	63793156	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.05450862855818E-5	0.01
18	61460390	A	T	18	63793156	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.75722115986829E-5	0.034
18	61460391	A	C	18	63793157	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.00643268158662E-5	0.022
18	61460391	A	G	18	63793157	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.994858772726306	0.982
18	61460391	A	T	18	63793157	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.24862444105103E-4	0.034
18	61460392	C	A	18	63793158	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.997189391352053	0.828
18	61460392	C	G	18	63793158	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.998960437530578	0.718
18	61460392	C	T	18	63793158	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0423287442160004	0.282
18	61460393	A	C	18	63793159	y	y	splicing	SERPINB7(NM_001040147:exon4:c.220-2A>C;NM_003784:exon4:c.220-2A>C;NM_001261831:exon3:c.169-2A>C;NM_001261830:exon4:c.220-2A>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.220-2A>C;ENST00000336429:exon4:c.220-2A>C;ENST00000398019:exon4:c.220-2A>C;ENST00000540675:exon3:c.169-2A>C;ENST00000447428:exon4:c.220-2A>C;ENST00000546027:exon4:c.220-2A>C;ENST00000431370:exon4:c.220-2A>C)	.	.	0.999972732167028	0.818
18	61460393	A	G	18	63793159	y	y	splicing	SERPINB7(NM_001040147:exon4:c.220-2A>G;NM_003784:exon4:c.220-2A>G;NM_001261831:exon3:c.169-2A>G;NM_001261830:exon4:c.220-2A>G)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.220-2A>G;ENST00000336429:exon4:c.220-2A>G;ENST00000398019:exon4:c.220-2A>G;ENST00000540675:exon3:c.169-2A>G;ENST00000447428:exon4:c.220-2A>G;ENST00000546027:exon4:c.220-2A>G;ENST00000431370:exon4:c.220-2A>G)	.	.	0.999972732167028	0.818
18	61460393	A	T	18	63793159	y	y	splicing	SERPINB7(NM_001040147:exon4:c.220-2A>T;NM_003784:exon4:c.220-2A>T;NM_001261831:exon3:c.169-2A>T;NM_001261830:exon4:c.220-2A>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.220-2A>T;ENST00000336429:exon4:c.220-2A>T;ENST00000398019:exon4:c.220-2A>T;ENST00000540675:exon3:c.169-2A>T;ENST00000447428:exon4:c.220-2A>T;ENST00000546027:exon4:c.220-2A>T;ENST00000431370:exon4:c.220-2A>T)	.	.	0.999948844427023	0.818
18	61460394	G	A	18	63793160	y	y	splicing	SERPINB7(NM_001040147:exon4:c.220-1G>A;NM_003784:exon4:c.220-1G>A;NM_001261831:exon3:c.169-1G>A;NM_001261830:exon4:c.220-1G>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.220-1G>A;ENST00000336429:exon4:c.220-1G>A;ENST00000398019:exon4:c.220-1G>A;ENST00000540675:exon3:c.169-1G>A;ENST00000447428:exon4:c.220-1G>A;ENST00000546027:exon4:c.220-1G>A;ENST00000431370:exon4:c.220-1G>A)	.	.	0.999976042803252	0.77
18	61460394	G	C	18	63793160	y	y	splicing	SERPINB7(NM_001040147:exon4:c.220-1G>C;NM_003784:exon4:c.220-1G>C;NM_001261831:exon3:c.169-1G>C;NM_001261830:exon4:c.220-1G>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.220-1G>C;ENST00000336429:exon4:c.220-1G>C;ENST00000398019:exon4:c.220-1G>C;ENST00000540675:exon3:c.169-1G>C;ENST00000447428:exon4:c.220-1G>C;ENST00000546027:exon4:c.220-1G>C;ENST00000431370:exon4:c.220-1G>C)	.	.	0.999976042803252	0.74
18	61460394	G	T	18	63793160	y	y	splicing	SERPINB7(NM_001040147:exon4:c.220-1G>T;NM_003784:exon4:c.220-1G>T;NM_001261831:exon3:c.169-1G>T;NM_001261830:exon4:c.220-1G>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.220-1G>T;ENST00000336429:exon4:c.220-1G>T;ENST00000398019:exon4:c.220-1G>T;ENST00000540675:exon3:c.169-1G>T;ENST00000447428:exon4:c.220-1G>T;ENST00000546027:exon4:c.220-1G>T;ENST00000431370:exon4:c.220-1G>T)	.	.	0.999976042803252	0.76
18	61460395	T	A	18	63793161	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.T220A:p.S74T;SERPINB7:NM_001261830:exon4:c.T220A:p.S74T;SERPINB7:NM_001261831:exon3:c.T169A:p.S57T;SERPINB7:NM_003784:exon4:c.T220A:p.S74T;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.T220A:p.S74T;ENSG00000166396:ENST00000540675:exon3:c.T169A:p.S57T;ENSG00000166396:ENST00000425392:exon4:c.T220A:p.S74T;ENSG00000166396:ENST00000431370:exon4:c.T220A:p.S74T;ENSG00000166396:ENST00000447428:exon4:c.T220A:p.S74T;ENSG00000166396:ENST00000546027:exon4:c.T220A:p.S74T;ENSG00000166396:ENST00000398019:exon4:c.T220A:p.S74T;	3.63460934625173E-5	0.0
18	61460395	T	C	18	63793161	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.T220C:p.S74P;SERPINB7:NM_001261830:exon4:c.T220C:p.S74P;SERPINB7:NM_001261831:exon3:c.T169C:p.S57P;SERPINB7:NM_003784:exon4:c.T220C:p.S74P;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.T220C:p.S74P;ENSG00000166396:ENST00000540675:exon3:c.T169C:p.S57P;ENSG00000166396:ENST00000425392:exon4:c.T220C:p.S74P;ENSG00000166396:ENST00000431370:exon4:c.T220C:p.S74P;ENSG00000166396:ENST00000447428:exon4:c.T220C:p.S74P;ENSG00000166396:ENST00000546027:exon4:c.T220C:p.S74P;ENSG00000166396:ENST00000398019:exon4:c.T220C:p.S74P;	7.14990925799959E-5	0.028
18	61460395	T	G	18	63793161	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.T220G:p.S74A;SERPINB7:NM_001261830:exon4:c.T220G:p.S74A;SERPINB7:NM_001261831:exon3:c.T169G:p.S57A;SERPINB7:NM_003784:exon4:c.T220G:p.S74A;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.T220G:p.S74A;ENSG00000166396:ENST00000540675:exon3:c.T169G:p.S57A;ENSG00000166396:ENST00000425392:exon4:c.T220G:p.S74A;ENSG00000166396:ENST00000431370:exon4:c.T220G:p.S74A;ENSG00000166396:ENST00000447428:exon4:c.T220G:p.S74A;ENSG00000166396:ENST00000546027:exon4:c.T220G:p.S74A;ENSG00000166396:ENST00000398019:exon4:c.T220G:p.S74A;	6.03017433313122E-4	0.146
18	61460396	C	A	18	63793162	y	y	exonic	SERPINB7	stopgain SNV	SERPINB7:NM_001040147:exon4:c.C221A:p.S74X;SERPINB7:NM_001261830:exon4:c.C221A:p.S74X;SERPINB7:NM_001261831:exon3:c.C170A:p.S57X;SERPINB7:NM_003784:exon4:c.C221A:p.S74X;	exonic	ENSG00000166396	stopgain SNV	ENSG00000166396:ENST00000336429:exon4:c.C221A:p.S74X;ENSG00000166396:ENST00000540675:exon3:c.C170A:p.S57X;ENSG00000166396:ENST00000425392:exon4:c.C221A:p.S74X;ENSG00000166396:ENST00000431370:exon4:c.C221A:p.S74X;ENSG00000166396:ENST00000447428:exon4:c.C221A:p.S74X;ENSG00000166396:ENST00000546027:exon4:c.C221A:p.S74X;ENSG00000166396:ENST00000398019:exon4:c.C221A:p.S74X;	1.17292151839619E-4	0.062
18	61460396	C	G	18	63793162	y	y	exonic	SERPINB7	stopgain SNV	SERPINB7:NM_001040147:exon4:c.C221G:p.S74X;SERPINB7:NM_001261830:exon4:c.C221G:p.S74X;SERPINB7:NM_001261831:exon3:c.C170G:p.S57X;SERPINB7:NM_003784:exon4:c.C221G:p.S74X;	exonic	ENSG00000166396	stopgain SNV	ENSG00000166396:ENST00000336429:exon4:c.C221G:p.S74X;ENSG00000166396:ENST00000540675:exon3:c.C170G:p.S57X;ENSG00000166396:ENST00000425392:exon4:c.C221G:p.S74X;ENSG00000166396:ENST00000431370:exon4:c.C221G:p.S74X;ENSG00000166396:ENST00000447428:exon4:c.C221G:p.S74X;ENSG00000166396:ENST00000546027:exon4:c.C221G:p.S74X;ENSG00000166396:ENST00000398019:exon4:c.C221G:p.S74X;	3.24603564404896E-4	0.076
18	61460396	C	T	18	63793162	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.C221T:p.S74L;SERPINB7:NM_001261830:exon4:c.C221T:p.S74L;SERPINB7:NM_001261831:exon3:c.C170T:p.S57L;SERPINB7:NM_003784:exon4:c.C221T:p.S74L;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.C221T:p.S74L;ENSG00000166396:ENST00000540675:exon3:c.C170T:p.S57L;ENSG00000166396:ENST00000425392:exon4:c.C221T:p.S74L;ENSG00000166396:ENST00000431370:exon4:c.C221T:p.S74L;ENSG00000166396:ENST00000447428:exon4:c.C221T:p.S74L;ENSG00000166396:ENST00000546027:exon4:c.C221T:p.S74L;ENSG00000166396:ENST00000398019:exon4:c.C221T:p.S74L;	1.10917150859898E-4	0.028
18	61460509	A	C	18	63793275	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.A334C:p.K112Q;SERPINB7:NM_001261830:exon4:c.A334C:p.K112Q;SERPINB7:NM_001261831:exon3:c.A283C:p.K95Q;SERPINB7:NM_003784:exon4:c.A334C:p.K112Q;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.A334C:p.K112Q;ENSG00000166396:ENST00000540675:exon3:c.A283C:p.K95Q;ENSG00000166396:ENST00000425392:exon4:c.A334C:p.K112Q;ENSG00000166396:ENST00000431370:exon4:c.A334C:p.K112Q;ENSG00000166396:ENST00000447428:exon4:c.A334C:p.K112Q;ENSG00000166396:ENST00000546027:exon4:c.A334C:p.K112Q;ENSG00000166396:ENST00000398019:exon4:c.A334C:p.K112Q;	3.30628684415205E-5	0.282
18	61460509	A	G	18	63793275	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.A334G:p.K112E;SERPINB7:NM_001261830:exon4:c.A334G:p.K112E;SERPINB7:NM_001261831:exon3:c.A283G:p.K95E;SERPINB7:NM_003784:exon4:c.A334G:p.K112E;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.A334G:p.K112E;ENSG00000166396:ENST00000540675:exon3:c.A283G:p.K95E;ENSG00000166396:ENST00000425392:exon4:c.A334G:p.K112E;ENSG00000166396:ENST00000431370:exon4:c.A334G:p.K112E;ENSG00000166396:ENST00000447428:exon4:c.A334G:p.K112E;ENSG00000166396:ENST00000546027:exon4:c.A334G:p.K112E;ENSG00000166396:ENST00000398019:exon4:c.A334G:p.K112E;	3.51793294479082E-5	0.0
18	61460509	A	T	18	63793275	y	y	exonic	SERPINB7	stopgain SNV	SERPINB7:NM_001040147:exon4:c.A334T:p.K112X;SERPINB7:NM_001261830:exon4:c.A334T:p.K112X;SERPINB7:NM_001261831:exon3:c.A283T:p.K95X;SERPINB7:NM_003784:exon4:c.A334T:p.K112X;	exonic	ENSG00000166396	stopgain SNV	ENSG00000166396:ENST00000336429:exon4:c.A334T:p.K112X;ENSG00000166396:ENST00000540675:exon3:c.A283T:p.K95X;ENSG00000166396:ENST00000425392:exon4:c.A334T:p.K112X;ENSG00000166396:ENST00000431370:exon4:c.A334T:p.K112X;ENSG00000166396:ENST00000447428:exon4:c.A334T:p.K112X;ENSG00000166396:ENST00000546027:exon4:c.A334T:p.K112X;ENSG00000166396:ENST00000398019:exon4:c.A334T:p.K112X;	5.23569495204102E-4	0.154
18	61460510	A	C	18	63793276	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.A335C:p.K112T;SERPINB7:NM_001261830:exon4:c.A335C:p.K112T;SERPINB7:NM_001261831:exon3:c.A284C:p.K95T;SERPINB7:NM_003784:exon4:c.A335C:p.K112T;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.A335C:p.K112T;ENSG00000166396:ENST00000540675:exon3:c.A284C:p.K95T;ENSG00000166396:ENST00000425392:exon4:c.A335C:p.K112T;ENSG00000166396:ENST00000431370:exon4:c.A335C:p.K112T;ENSG00000166396:ENST00000447428:exon4:c.A335C:p.K112T;ENSG00000166396:ENST00000546027:exon4:c.A335C:p.K112T;ENSG00000166396:ENST00000398019:exon4:c.A335C:p.K112T;	0.022742233009571	0.362
18	61460510	A	G	18	63793276	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.A335G:p.K112R;SERPINB7:NM_001261830:exon4:c.A335G:p.K112R;SERPINB7:NM_001261831:exon3:c.A284G:p.K95R;SERPINB7:NM_003784:exon4:c.A335G:p.K112R;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.A335G:p.K112R;ENSG00000166396:ENST00000540675:exon3:c.A284G:p.K95R;ENSG00000166396:ENST00000425392:exon4:c.A335G:p.K112R;ENSG00000166396:ENST00000431370:exon4:c.A335G:p.K112R;ENSG00000166396:ENST00000447428:exon4:c.A335G:p.K112R;ENSG00000166396:ENST00000546027:exon4:c.A335G:p.K112R;ENSG00000166396:ENST00000398019:exon4:c.A335G:p.K112R;	0.0264928388747002	0.262
18	61460510	A	T	18	63793276	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.A335T:p.K112M;SERPINB7:NM_001261830:exon4:c.A335T:p.K112M;SERPINB7:NM_001261831:exon3:c.A284T:p.K95M;SERPINB7:NM_003784:exon4:c.A335T:p.K112M;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.A335T:p.K112M;ENSG00000166396:ENST00000540675:exon3:c.A284T:p.K95M;ENSG00000166396:ENST00000425392:exon4:c.A335T:p.K112M;ENSG00000166396:ENST00000431370:exon4:c.A335T:p.K112M;ENSG00000166396:ENST00000447428:exon4:c.A335T:p.K112M;ENSG00000166396:ENST00000546027:exon4:c.A335T:p.K112M;ENSG00000166396:ENST00000398019:exon4:c.A335T:p.K112M;	0.053264739625332	0.368
18	61460511	G	A	18	63793277	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon4:c.G336A:p.K112K;SERPINB7:NM_001261830:exon4:c.G336A:p.K112K;SERPINB7:NM_001261831:exon3:c.G285A:p.K95K;SERPINB7:NM_003784:exon4:c.G336A:p.K112K;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.G336A:p.K112K;ENSG00000166396:ENST00000540675:exon3:c.G285A:p.K95K;ENSG00000166396:ENST00000425392:exon4:c.G336A:p.K112K;ENSG00000166396:ENST00000431370:exon4:c.G336A:p.K112K;ENSG00000166396:ENST00000447428:exon4:c.G336A:p.K112K;ENSG00000166396:ENST00000546027:exon4:c.G336A:p.K112K;ENSG00000166396:ENST00000398019:exon4:c.G336A:p.K112K;	0.0978903769169607	0.292
18	61460511	G	C	18	63793277	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.G336C:p.K112N;SERPINB7:NM_001261830:exon4:c.G336C:p.K112N;SERPINB7:NM_001261831:exon3:c.G285C:p.K95N;SERPINB7:NM_003784:exon4:c.G336C:p.K112N;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.G336C:p.K112N;ENSG00000166396:ENST00000540675:exon3:c.G285C:p.K95N;ENSG00000166396:ENST00000425392:exon4:c.G336C:p.K112N;ENSG00000166396:ENST00000431370:exon4:c.G336C:p.K112N;ENSG00000166396:ENST00000447428:exon4:c.G336C:p.K112N;ENSG00000166396:ENST00000546027:exon4:c.G336C:p.K112N;ENSG00000166396:ENST00000398019:exon4:c.G336C:p.K112N;	0.345347688230324	0.454
18	61460511	G	T	18	63793277	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon4:c.G336T:p.K112N;SERPINB7:NM_001261830:exon4:c.G336T:p.K112N;SERPINB7:NM_001261831:exon3:c.G285T:p.K95N;SERPINB7:NM_003784:exon4:c.G336T:p.K112N;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon4:c.G336T:p.K112N;ENSG00000166396:ENST00000540675:exon3:c.G285T:p.K95N;ENSG00000166396:ENST00000425392:exon4:c.G336T:p.K112N;ENSG00000166396:ENST00000431370:exon4:c.G336T:p.K112N;ENSG00000166396:ENST00000447428:exon4:c.G336T:p.K112N;ENSG00000166396:ENST00000546027:exon4:c.G336T:p.K112N;ENSG00000166396:ENST00000398019:exon4:c.G336T:p.K112N;	0.367181207996686	0.38
18	61460512	G	A	18	63793278	y	y	splicing	SERPINB7(NM_001040147:exon4:c.336+1G>A;NM_003784:exon4:c.336+1G>A;NM_001261831:exon3:c.285+1G>A;NM_001261830:exon4:c.336+1G>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.336+1G>A;ENST00000336429:exon4:c.336+1G>A;ENST00000398019:exon4:c.336+1G>A;ENST00000540675:exon3:c.285+1G>A;ENST00000447428:exon4:c.336+1G>A;ENST00000546027:exon4:c.336+1G>A;ENST00000431370:exon4:c.336+1G>A)	.	.	0.999962153403958	0.866
18	61460512	G	C	18	63793278	y	y	splicing	SERPINB7(NM_001040147:exon4:c.336+1G>C;NM_003784:exon4:c.336+1G>C;NM_001261831:exon3:c.285+1G>C;NM_001261830:exon4:c.336+1G>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.336+1G>C;ENST00000336429:exon4:c.336+1G>C;ENST00000398019:exon4:c.336+1G>C;ENST00000540675:exon3:c.285+1G>C;ENST00000447428:exon4:c.336+1G>C;ENST00000546027:exon4:c.336+1G>C;ENST00000431370:exon4:c.336+1G>C)	.	.	0.999954401362567	0.854
18	61460512	G	T	18	63793278	y	y	splicing	SERPINB7(NM_001040147:exon4:c.336+1G>T;NM_003784:exon4:c.336+1G>T;NM_001261831:exon3:c.285+1G>T;NM_001261830:exon4:c.336+1G>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.336+1G>T;ENST00000336429:exon4:c.336+1G>T;ENST00000398019:exon4:c.336+1G>T;ENST00000540675:exon3:c.285+1G>T;ENST00000447428:exon4:c.336+1G>T;ENST00000546027:exon4:c.336+1G>T;ENST00000431370:exon4:c.336+1G>T)	.	.	0.999962716029817	0.864
18	61460513	T	A	18	63793279	y	y	splicing	SERPINB7(NM_001040147:exon4:c.336+2T>A;NM_003784:exon4:c.336+2T>A;NM_001261831:exon3:c.285+2T>A;NM_001261830:exon4:c.336+2T>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.336+2T>A;ENST00000336429:exon4:c.336+2T>A;ENST00000398019:exon4:c.336+2T>A;ENST00000540675:exon3:c.285+2T>A;ENST00000447428:exon4:c.336+2T>A;ENST00000546027:exon4:c.336+2T>A;ENST00000431370:exon4:c.336+2T>A)	.	.	0.999962958601995	0.84
18	61460513	T	C	18	63793279	y	y	splicing	SERPINB7(NM_001040147:exon4:c.336+2T>C;NM_003784:exon4:c.336+2T>C;NM_001261831:exon3:c.285+2T>C;NM_001261830:exon4:c.336+2T>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.336+2T>C;ENST00000336429:exon4:c.336+2T>C;ENST00000398019:exon4:c.336+2T>C;ENST00000540675:exon3:c.285+2T>C;ENST00000447428:exon4:c.336+2T>C;ENST00000546027:exon4:c.336+2T>C;ENST00000431370:exon4:c.336+2T>C)	.	.	0.898520488238911	0.562
18	61460513	T	G	18	63793279	y	y	splicing	SERPINB7(NM_001040147:exon4:c.336+2T>G;NM_003784:exon4:c.336+2T>G;NM_001261831:exon3:c.285+2T>G;NM_001261830:exon4:c.336+2T>G)	.	.	splicing	ENSG00000166396(ENST00000425392:exon4:c.336+2T>G;ENST00000336429:exon4:c.336+2T>G;ENST00000398019:exon4:c.336+2T>G;ENST00000540675:exon3:c.285+2T>G;ENST00000447428:exon4:c.336+2T>G;ENST00000546027:exon4:c.336+2T>G;ENST00000431370:exon4:c.336+2T>G)	.	.	0.999962958601995	0.802
18	61460514	A	C	18	63793280	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.273093210728272	0.5
18	61460514	A	G	18	63793280	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00360166098113876	0.1
18	61460514	A	T	18	63793280	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.151253037492288	0.42
18	61460515	A	C	18	63793281	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0093649760550315	0.272
18	61460515	A	G	18	63793281	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00559055765887314	0.234
18	61460515	A	T	18	63793281	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00950786811289886	0.212
18	61460516	G	A	18	63793282	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.488101402176902	0.414
18	61460516	G	C	18	63793282	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.446688513431137	0.402
18	61460516	G	T	18	63793282	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.562108650873536	0.416
18	61460517	T	A	18	63793283	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.25003598777635E-4	0.028
18	61460517	T	C	18	63793283	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.66035434711702E-4	0.008
18	61460517	T	G	18	63793283	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.22080280973066E-4	0.014
18	61460518	G	A	18	63793284	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.38113264713725E-5	0.0
18	61460518	G	C	18	63793284	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.38113264713725E-5	0.004
18	61460518	G	T	18	63793284	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.38113264713725E-5	0.0
18	61460519	A	C	18	63793285	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.99263190704948E-5	0.0
18	61460519	A	G	18	63793285	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.99263190704948E-5	0.0
18	61460519	A	T	18	63793285	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.99263190704948E-5	0.0
18	61463488	T	A	18	63796254	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.30253350313329E-4	0.262
18	61463488	T	C	18	63796254	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.13400510194878E-4	0.032
18	61463488	T	G	18	63796254	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.46586014774162E-4	0.242
18	61463489	C	A	18	63796255	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.06056809743178E-4	0.094
18	61463489	C	G	18	63796255	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.89846547495942E-5	0.0
18	61463489	C	T	18	63796255	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.67644964018022E-5	0.0
18	61463490	T	A	18	63796256	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.73696533083849E-4	0.192
18	61463490	T	C	18	63796256	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.3915440975476E-5	0.0
18	61463490	T	G	18	63796256	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.33380017498111E-4	0.214
18	61463491	T	A	18	63796257	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.27003643477605E-4	0.186
18	61463491	T	C	18	63796257	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.99355472797444E-4	0.006
18	61463491	T	G	18	63796257	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.83489935829541E-4	0.236
18	61463492	C	A	18	63796258	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.82102021077998E-5	0.014
18	61463492	C	G	18	63796258	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.18269775172886E-5	0.01
18	61463492	C	T	18	63796258	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.00665056410361E-5	0.0
18	61463493	T	A	18	63796259	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.86410464027547E-4	0.03
18	61463493	T	C	18	63796259	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.30314081236121E-5	0.004
18	61463493	T	G	18	63796259	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.59866738061304E-4	0.034
18	61463494	T	A	18	63796260	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.34277540118643E-4	0.112
18	61463494	T	C	18	63796260	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.69975148854372E-5	0.01
18	61463494	T	G	18	63796260	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	7.28317719274886E-4	0.186
18	61463495	T	A	18	63796261	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00846486500635224	0.276
18	61463495	T	C	18	63796261	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	7.67051515851562E-4	0.034
18	61463495	T	G	18	63796261	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0195680565411095	0.314
18	61463496	A	C	18	63796262	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.02568081262947E-5	0.082
18	61463496	A	G	18	63796262	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.36674630759037E-5	0.02
18	61463496	A	T	18	63796262	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.22338856622585E-5	0.002
18	61463497	T	A	18	63796263	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.11409874277963E-4	0.072
18	61463497	T	C	18	63796263	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.43664181514497E-5	0.004
18	61463497	T	G	18	63796263	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.834703789399737	0.642
18	61463498	A	C	18	63796264	y	y	splicing	SERPINB7(NM_001040147:exon5:c.337-2A>C;NM_003784:exon5:c.337-2A>C;NM_001261831:exon4:c.286-2A>C;NM_001261830:exon5:c.337-2A>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon5:c.337-2A>C;ENST00000336429:exon5:c.337-2A>C;ENST00000398019:exon5:c.337-2A>C;ENST00000540675:exon4:c.286-2A>C;ENST00000447428:exon5:c.337-2A>C;ENST00000546027:exon5:c.337-2A>C;ENST00000431370:exon5:c.337-2A>C)	.	.	0.999962958601995	0.808
18	61463498	A	G	18	63796264	y	y	splicing	SERPINB7(NM_001040147:exon5:c.337-2A>G;NM_003784:exon5:c.337-2A>G;NM_001261831:exon4:c.286-2A>G;NM_001261830:exon5:c.337-2A>G)	.	.	splicing	ENSG00000166396(ENST00000425392:exon5:c.337-2A>G;ENST00000336429:exon5:c.337-2A>G;ENST00000398019:exon5:c.337-2A>G;ENST00000540675:exon4:c.286-2A>G;ENST00000447428:exon5:c.337-2A>G;ENST00000546027:exon5:c.337-2A>G;ENST00000431370:exon5:c.337-2A>G)	.	.	0.999962958601995	0.808
18	61463498	A	T	18	63796264	y	y	splicing	SERPINB7(NM_001040147:exon5:c.337-2A>T;NM_003784:exon5:c.337-2A>T;NM_001261831:exon4:c.286-2A>T;NM_001261830:exon5:c.337-2A>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon5:c.337-2A>T;ENST00000336429:exon5:c.337-2A>T;ENST00000398019:exon5:c.337-2A>T;ENST00000540675:exon4:c.286-2A>T;ENST00000447428:exon5:c.337-2A>T;ENST00000546027:exon5:c.337-2A>T;ENST00000431370:exon5:c.337-2A>T)	.	.	0.999962958601995	0.846
18	61463499	G	A	18	63796265	y	y	splicing	SERPINB7(NM_001040147:exon5:c.337-1G>A;NM_003784:exon5:c.337-1G>A;NM_001261831:exon4:c.286-1G>A;NM_001261830:exon5:c.337-1G>A)	.	.	splicing	ENSG00000166396(ENST00000425392:exon5:c.337-1G>A;ENST00000336429:exon5:c.337-1G>A;ENST00000398019:exon5:c.337-1G>A;ENST00000540675:exon4:c.286-1G>A;ENST00000447428:exon5:c.337-1G>A;ENST00000546027:exon5:c.337-1G>A;ENST00000431370:exon5:c.337-1G>A)	.	.	0.999974785031454	0.866
18	61463499	G	C	18	63796265	y	y	splicing	SERPINB7(NM_001040147:exon5:c.337-1G>C;NM_003784:exon5:c.337-1G>C;NM_001261831:exon4:c.286-1G>C;NM_001261830:exon5:c.337-1G>C)	.	.	splicing	ENSG00000166396(ENST00000425392:exon5:c.337-1G>C;ENST00000336429:exon5:c.337-1G>C;ENST00000398019:exon5:c.337-1G>C;ENST00000540675:exon4:c.286-1G>C;ENST00000447428:exon5:c.337-1G>C;ENST00000546027:exon5:c.337-1G>C;ENST00000431370:exon5:c.337-1G>C)	.	.	0.999969620222061	0.852
18	61463499	G	T	18	63796265	y	y	splicing	SERPINB7(NM_001040147:exon5:c.337-1G>T;NM_003784:exon5:c.337-1G>T;NM_001261831:exon4:c.286-1G>T;NM_001261830:exon5:c.337-1G>T)	.	.	splicing	ENSG00000166396(ENST00000425392:exon5:c.337-1G>T;ENST00000336429:exon5:c.337-1G>T;ENST00000398019:exon5:c.337-1G>T;ENST00000540675:exon4:c.286-1G>T;ENST00000447428:exon5:c.337-1G>T;ENST00000546027:exon5:c.337-1G>T;ENST00000431370:exon5:c.337-1G>T)	.	.	0.999975159880751	0.864
18	61463500	G	A	18	63796266	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.G337A:p.D113N;SERPINB7:NM_001261830:exon5:c.G337A:p.D113N;SERPINB7:NM_001261831:exon4:c.G286A:p.D96N;SERPINB7:NM_003784:exon5:c.G337A:p.D113N;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.G337A:p.D113N;ENSG00000166396:ENST00000540675:exon4:c.G286A:p.D96N;ENSG00000166396:ENST00000425392:exon5:c.G337A:p.D113N;ENSG00000166396:ENST00000431370:exon5:c.G337A:p.D113N;ENSG00000166396:ENST00000447428:exon5:c.G337A:p.D113N;ENSG00000166396:ENST00000546027:exon5:c.G337A:p.D113N;ENSG00000166396:ENST00000398019:exon5:c.G337A:p.D113N;	2.14885662188145E-4	0.068
18	61463500	G	C	18	63796266	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.G337C:p.D113H;SERPINB7:NM_001261830:exon5:c.G337C:p.D113H;SERPINB7:NM_001261831:exon4:c.G286C:p.D96H;SERPINB7:NM_003784:exon5:c.G337C:p.D113H;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.G337C:p.D113H;ENSG00000166396:ENST00000540675:exon4:c.G286C:p.D96H;ENSG00000166396:ENST00000425392:exon5:c.G337C:p.D113H;ENSG00000166396:ENST00000431370:exon5:c.G337C:p.D113H;ENSG00000166396:ENST00000447428:exon5:c.G337C:p.D113H;ENSG00000166396:ENST00000546027:exon5:c.G337C:p.D113H;ENSG00000166396:ENST00000398019:exon5:c.G337C:p.D113H;	0.00241334301961522	0.102
18	61463500	G	T	18	63796266	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.G337T:p.D113Y;SERPINB7:NM_001261830:exon5:c.G337T:p.D113Y;SERPINB7:NM_001261831:exon4:c.G286T:p.D96Y;SERPINB7:NM_003784:exon5:c.G337T:p.D113Y;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.G337T:p.D113Y;ENSG00000166396:ENST00000540675:exon4:c.G286T:p.D96Y;ENSG00000166396:ENST00000425392:exon5:c.G337T:p.D113Y;ENSG00000166396:ENST00000431370:exon5:c.G337T:p.D113Y;ENSG00000166396:ENST00000447428:exon5:c.G337T:p.D113Y;ENSG00000166396:ENST00000546027:exon5:c.G337T:p.D113Y;ENSG00000166396:ENST00000398019:exon5:c.G337T:p.D113Y;	0.203621222194869	0.332
18	61463501	A	C	18	63796267	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.A338C:p.D113A;SERPINB7:NM_001261830:exon5:c.A338C:p.D113A;SERPINB7:NM_001261831:exon4:c.A287C:p.D96A;SERPINB7:NM_003784:exon5:c.A338C:p.D113A;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.A338C:p.D113A;ENSG00000166396:ENST00000540675:exon4:c.A287C:p.D96A;ENSG00000166396:ENST00000425392:exon5:c.A338C:p.D113A;ENSG00000166396:ENST00000431370:exon5:c.A338C:p.D113A;ENSG00000166396:ENST00000447428:exon5:c.A338C:p.D113A;ENSG00000166396:ENST00000546027:exon5:c.A338C:p.D113A;ENSG00000166396:ENST00000398019:exon5:c.A338C:p.D113A;	7.86077568591006E-5	0.014
18	61463501	A	G	18	63796267	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.A338G:p.D113G;SERPINB7:NM_001261830:exon5:c.A338G:p.D113G;SERPINB7:NM_001261831:exon4:c.A287G:p.D96G;SERPINB7:NM_003784:exon5:c.A338G:p.D113G;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.A338G:p.D113G;ENSG00000166396:ENST00000540675:exon4:c.A287G:p.D96G;ENSG00000166396:ENST00000425392:exon5:c.A338G:p.D113G;ENSG00000166396:ENST00000431370:exon5:c.A338G:p.D113G;ENSG00000166396:ENST00000447428:exon5:c.A338G:p.D113G;ENSG00000166396:ENST00000546027:exon5:c.A338G:p.D113G;ENSG00000166396:ENST00000398019:exon5:c.A338G:p.D113G;	7.41093125280064E-5	0.018
18	61463501	A	T	18	63796267	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.A338T:p.D113V;SERPINB7:NM_001261830:exon5:c.A338T:p.D113V;SERPINB7:NM_001261831:exon4:c.A287T:p.D96V;SERPINB7:NM_003784:exon5:c.A338T:p.D113V;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.A338T:p.D113V;ENSG00000166396:ENST00000540675:exon4:c.A287T:p.D96V;ENSG00000166396:ENST00000425392:exon5:c.A338T:p.D113V;ENSG00000166396:ENST00000431370:exon5:c.A338T:p.D113V;ENSG00000166396:ENST00000447428:exon5:c.A338T:p.D113V;ENSG00000166396:ENST00000546027:exon5:c.A338T:p.D113V;ENSG00000166396:ENST00000398019:exon5:c.A338T:p.D113V;	2.03998066779981E-5	0.0
18	61463615	A	C	18	63796381	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.A452C:p.H151P;SERPINB7:NM_001261830:exon5:c.A452C:p.H151P;SERPINB7:NM_001261831:exon4:c.A401C:p.H134P;SERPINB7:NM_003784:exon5:c.A452C:p.H151P;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.A452C:p.H151P;ENSG00000166396:ENST00000540675:exon4:c.A401C:p.H134P;ENSG00000166396:ENST00000447428:exon5:c.A452C:p.H151P;ENSG00000166396:ENST00000546027:exon5:c.A452C:p.H151P;ENSG00000166396:ENST00000398019:exon5:c.A452C:p.H151P;	1.27752211303905E-4	0.0
18	61463615	A	G	18	63796381	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.A452G:p.H151R;SERPINB7:NM_001261830:exon5:c.A452G:p.H151R;SERPINB7:NM_001261831:exon4:c.A401G:p.H134R;SERPINB7:NM_003784:exon5:c.A452G:p.H151R;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.A452G:p.H151R;ENSG00000166396:ENST00000540675:exon4:c.A401G:p.H134R;ENSG00000166396:ENST00000447428:exon5:c.A452G:p.H151R;ENSG00000166396:ENST00000546027:exon5:c.A452G:p.H151R;ENSG00000166396:ENST00000398019:exon5:c.A452G:p.H151R;	1.45961322005491E-4	0.002
18	61463615	A	T	18	63796381	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.A452T:p.H151L;SERPINB7:NM_001261830:exon5:c.A452T:p.H151L;SERPINB7:NM_001261831:exon4:c.A401T:p.H134L;SERPINB7:NM_003784:exon5:c.A452T:p.H151L;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.A452T:p.H151L;ENSG00000166396:ENST00000540675:exon4:c.A401T:p.H134L;ENSG00000166396:ENST00000447428:exon5:c.A452T:p.H151L;ENSG00000166396:ENST00000546027:exon5:c.A452T:p.H151L;ENSG00000166396:ENST00000398019:exon5:c.A452T:p.H151L;	4.32782563632244E-4	0.1
18	61463616	T	A	18	63796382	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.T453A:p.H151Q;SERPINB7:NM_001261830:exon5:c.T453A:p.H151Q;SERPINB7:NM_001261831:exon4:c.T402A:p.H134Q;SERPINB7:NM_003784:exon5:c.T453A:p.H151Q;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.T453A:p.H151Q;ENSG00000166396:ENST00000540675:exon4:c.T402A:p.H134Q;ENSG00000166396:ENST00000447428:exon5:c.T453A:p.H151Q;ENSG00000166396:ENST00000546027:exon5:c.T453A:p.H151Q;ENSG00000166396:ENST00000398019:exon5:c.T453A:p.H151Q;	3.03107771125444E-4	0.128
18	61463616	T	C	18	63796382	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon5:c.T453C:p.H151H;SERPINB7:NM_001261830:exon5:c.T453C:p.H151H;SERPINB7:NM_001261831:exon4:c.T402C:p.H134H;SERPINB7:NM_003784:exon5:c.T453C:p.H151H;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.T453C:p.H151H;ENSG00000166396:ENST00000540675:exon4:c.T402C:p.H134H;ENSG00000166396:ENST00000447428:exon5:c.T453C:p.H151H;ENSG00000166396:ENST00000546027:exon5:c.T453C:p.H151H;ENSG00000166396:ENST00000398019:exon5:c.T453C:p.H151H;	5.8583621100074E-4	0.024
18	61463616	T	G	18	63796382	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.T453G:p.H151Q;SERPINB7:NM_001261830:exon5:c.T453G:p.H151Q;SERPINB7:NM_001261831:exon4:c.T402G:p.H134Q;SERPINB7:NM_003784:exon5:c.T453G:p.H151Q;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.T453G:p.H151Q;ENSG00000166396:ENST00000540675:exon4:c.T402G:p.H134Q;ENSG00000166396:ENST00000447428:exon5:c.T453G:p.H151Q;ENSG00000166396:ENST00000546027:exon5:c.T453G:p.H151Q;ENSG00000166396:ENST00000398019:exon5:c.T453G:p.H151Q;	0.00334882264890678	0.054
18	61463617	G	A	18	63796383	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.G454A:p.G152S;SERPINB7:NM_001261830:exon5:c.G454A:p.G152S;SERPINB7:NM_001261831:exon4:c.G403A:p.G135S;SERPINB7:NM_003784:exon5:c.G454A:p.G152S;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.G454A:p.G152S;ENSG00000166396:ENST00000540675:exon4:c.G403A:p.G135S;ENSG00000166396:ENST00000447428:exon5:c.G454A:p.G152S;ENSG00000166396:ENST00000546027:exon5:c.G454A:p.G152S;ENSG00000166396:ENST00000398019:exon5:c.G454A:p.G152S;	0.999916073297734	0.966
18	61463617	G	C	18	63796383	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.G454C:p.G152R;SERPINB7:NM_001261830:exon5:c.G454C:p.G152R;SERPINB7:NM_001261831:exon4:c.G403C:p.G135R;SERPINB7:NM_003784:exon5:c.G454C:p.G152R;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.G454C:p.G152R;ENSG00000166396:ENST00000540675:exon4:c.G403C:p.G135R;ENSG00000166396:ENST00000447428:exon5:c.G454C:p.G152R;ENSG00000166396:ENST00000546027:exon5:c.G454C:p.G152R;ENSG00000166396:ENST00000398019:exon5:c.G454C:p.G152R;	0.999946848174447	0.946
18	61463617	G	T	18	63796383	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon5:c.G454T:p.G152C;SERPINB7:NM_001261830:exon5:c.G454T:p.G152C;SERPINB7:NM_001261831:exon4:c.G403T:p.G135C;SERPINB7:NM_003784:exon5:c.G454T:p.G152C;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon5:c.G454T:p.G152C;ENSG00000166396:ENST00000540675:exon4:c.G403T:p.G135C;ENSG00000166396:ENST00000447428:exon5:c.G454T:p.G152C;ENSG00000166396:ENST00000546027:exon5:c.G454T:p.G152C;ENSG00000166396:ENST00000398019:exon5:c.G454T:p.G152C;	0.999781022799434	0.946
18	61463618	G	A	18	63796384	y	y	splicing	SERPINB7(NM_001040147:exon5:c.454+1G>A;NM_003784:exon5:c.454+1G>A;NM_001261831:exon4:c.403+1G>A;NM_001261830:exon5:c.454+1G>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon5:c.454+1G>A;ENST00000398019:exon5:c.454+1G>A;ENST00000540675:exon4:c.403+1G>A;ENST00000447428:exon5:c.454+1G>A;ENST00000546027:exon5:c.454+1G>A)	.	.	0.999971209564868	0.936
18	61463618	G	C	18	63796384	y	y	splicing	SERPINB7(NM_001040147:exon5:c.454+1G>C;NM_003784:exon5:c.454+1G>C;NM_001261831:exon4:c.403+1G>C;NM_001261830:exon5:c.454+1G>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon5:c.454+1G>C;ENST00000398019:exon5:c.454+1G>C;ENST00000540675:exon4:c.403+1G>C;ENST00000447428:exon5:c.454+1G>C;ENST00000546027:exon5:c.454+1G>C)	.	.	0.999976475802857	0.906
18	61463618	G	T	18	63796384	y	y	splicing	SERPINB7(NM_001040147:exon5:c.454+1G>T;NM_003784:exon5:c.454+1G>T;NM_001261831:exon4:c.403+1G>T;NM_001261830:exon5:c.454+1G>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon5:c.454+1G>T;ENST00000398019:exon5:c.454+1G>T;ENST00000540675:exon4:c.403+1G>T;ENST00000447428:exon5:c.454+1G>T;ENST00000546027:exon5:c.454+1G>T)	.	.	0.999970205305079	0.918
18	61463619	T	A	18	63796385	y	y	splicing	SERPINB7(NM_001040147:exon5:c.454+2T>A;NM_003784:exon5:c.454+2T>A;NM_001261831:exon4:c.403+2T>A;NM_001261830:exon5:c.454+2T>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon5:c.454+2T>A;ENST00000398019:exon5:c.454+2T>A;ENST00000540675:exon4:c.403+2T>A;ENST00000447428:exon5:c.454+2T>A;ENST00000546027:exon5:c.454+2T>A)	.	.	0.999893588078984	0.85
18	61463619	T	C	18	63796385	y	y	splicing	SERPINB7(NM_001040147:exon5:c.454+2T>C;NM_003784:exon5:c.454+2T>C;NM_001261831:exon4:c.403+2T>C;NM_001261830:exon5:c.454+2T>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon5:c.454+2T>C;ENST00000398019:exon5:c.454+2T>C;ENST00000540675:exon4:c.403+2T>C;ENST00000447428:exon5:c.454+2T>C;ENST00000546027:exon5:c.454+2T>C)	.	.	0.999287080355367	0.81
18	61463619	T	G	18	63796385	y	y	splicing	SERPINB7(NM_001040147:exon5:c.454+2T>G;NM_003784:exon5:c.454+2T>G;NM_001261831:exon4:c.403+2T>G;NM_001261830:exon5:c.454+2T>G)	.	.	splicing	ENSG00000166396(ENST00000336429:exon5:c.454+2T>G;ENST00000398019:exon5:c.454+2T>G;ENST00000540675:exon4:c.403+2T>G;ENST00000447428:exon5:c.454+2T>G;ENST00000546027:exon5:c.454+2T>G)	.	.	0.999871793741964	0.834
18	61463620	G	A	18	63796386	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.06417268828148E-4	0.006
18	61463620	G	C	18	63796386	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.600572698882706	0.554
18	61463620	G	T	18	63796386	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0860120387179428	0.374
18	61463621	A	C	18	63796387	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.522861071922127	0.5
18	61463621	A	G	18	63796387	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.969619677791252	0.758
18	61463621	A	T	18	63796387	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.97825967973544	0.732
18	61463622	G	A	18	63796388	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999073509337311	0.864
18	61463622	G	C	18	63796388	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999831047877046	0.948
18	61463622	G	T	18	63796388	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999609781842444	0.904
18	61463623	T	A	18	63796389	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00961501090235291	0.288
18	61463623	T	C	18	63796389	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00350151932417425	0.186
18	61463623	T	G	18	63796389	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00124229619619935	0.226
18	61463624	A	C	18	63796390	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.12004639248942E-5	0.0
18	61463624	A	G	18	63796390	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.39190822816108E-5	0.0
18	61463624	A	T	18	63796390	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.37607125495435E-5	0.0
18	61463625	T	A	18	63796391	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.86187396696614E-5	0.036
18	61463625	T	C	18	63796391	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.76221881071091E-5	0.04
18	61463625	T	G	18	63796391	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.44034599667148E-5	0.072
18	61465826	T	A	18	63798592	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.52707168742942E-4	0.128
18	61465826	T	C	18	63798592	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.0776666169209E-5	0.002
18	61465826	T	G	18	63798592	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.69664462573139E-4	0.052
18	61465827	T	A	18	63798593	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.59390155174065E-4	0.114
18	61465827	T	C	18	63798593	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.64560280666571E-4	0.008
18	61465827	T	G	18	63798593	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.14020830124232E-4	0.136
18	61465828	T	A	18	63798594	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00100880940055323	0.106
18	61465828	T	C	18	63798594	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.00784128817791E-4	0.028
18	61465828	T	G	18	63798594	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00256471770958005	0.1
18	61465829	T	A	18	63798595	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0449848422356125	0.192
18	61465829	T	C	18	63798595	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00183263774958459	0.112
18	61465829	T	G	18	63798595	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0140495556208358	0.11
18	61465830	T	A	18	63798596	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0123596199879882	0.172
18	61465830	T	C	18	63798596	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.00799772504373E-4	0.016
18	61465830	T	G	18	63798596	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00414187691708715	0.148
18	61465831	T	A	18	63798597	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00758132802732051	0.136
18	61465831	T	C	18	63798597	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.44926231575622E-4	0.012
18	61465831	T	G	18	63798597	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00836268145862318	0.138
18	61465832	C	A	18	63798598	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.53096580080091E-4	0.142
18	61465832	C	G	18	63798598	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00225000230988399	0.19
18	61465832	C	T	18	63798598	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.91687140948255E-5	0.002
18	61465833	A	C	18	63798599	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.55765882095256E-5	0.006
18	61465833	A	G	18	63798599	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.83543997014934E-4	0.014
18	61465833	A	T	18	63798599	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.48588456809443E-5	0.002
18	61465834	A	C	18	63798600	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.47850557538152E-4	0.038
18	61465834	A	G	18	63798600	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999024994620504	0.972
18	61465834	A	T	18	63798600	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00170160279795154	0.016
18	61465835	A	C	18	63798601	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	9.92882562745626E-5	0.126
18	61465835	A	G	18	63798601	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.81083890747343	0.592
18	61465835	A	T	18	63798601	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.5039117383846E-4	0.046
18	61465836	A	C	18	63798602	y	y	splicing	SERPINB7(NM_001040147:exon6:c.455-2A>C;NM_003784:exon6:c.455-2A>C;NM_001261831:exon5:c.404-2A>C;NM_001261830:exon6:c.455-2A>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.455-2A>C;ENST00000398019:exon6:c.455-2A>C;ENST00000540675:exon5:c.404-2A>C;ENST00000447428:exon6:c.455-2A>C;ENST00000546027:exon6:c.455-2A>C)	.	.	0.99994568797423	0.946
18	61465836	A	G	18	63798602	y	y	splicing	SERPINB7(NM_001040147:exon6:c.455-2A>G;NM_003784:exon6:c.455-2A>G;NM_001261831:exon5:c.404-2A>G;NM_001261830:exon6:c.455-2A>G)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.455-2A>G;ENST00000398019:exon6:c.455-2A>G;ENST00000540675:exon5:c.404-2A>G;ENST00000447428:exon6:c.455-2A>G;ENST00000546027:exon6:c.455-2A>G)	.	.	0.99994568797423	0.946
18	61465836	A	T	18	63798602	y	y	splicing	SERPINB7(NM_001040147:exon6:c.455-2A>T;NM_003784:exon6:c.455-2A>T;NM_001261831:exon5:c.404-2A>T;NM_001261830:exon6:c.455-2A>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.455-2A>T;ENST00000398019:exon6:c.455-2A>T;ENST00000540675:exon5:c.404-2A>T;ENST00000447428:exon6:c.455-2A>T;ENST00000546027:exon6:c.455-2A>T)	.	.	0.99994568797423	0.942
18	61465837	G	A	18	63798603	y	y	splicing	SERPINB7(NM_001040147:exon6:c.455-1G>A;NM_003784:exon6:c.455-1G>A;NM_001261831:exon5:c.404-1G>A;NM_001261830:exon6:c.455-1G>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.455-1G>A;ENST00000398019:exon6:c.455-1G>A;ENST00000540675:exon5:c.404-1G>A;ENST00000447428:exon6:c.455-1G>A;ENST00000546027:exon6:c.455-1G>A)	.	.	0.99995545544995	0.934
18	61465837	G	C	18	63798603	y	y	splicing	SERPINB7(NM_001040147:exon6:c.455-1G>C;NM_003784:exon6:c.455-1G>C;NM_001261831:exon5:c.404-1G>C;NM_001261830:exon6:c.455-1G>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.455-1G>C;ENST00000398019:exon6:c.455-1G>C;ENST00000540675:exon5:c.404-1G>C;ENST00000447428:exon6:c.455-1G>C;ENST00000546027:exon6:c.455-1G>C)	.	.	0.99995545544995	0.944
18	61465837	G	T	18	63798603	y	y	splicing	SERPINB7(NM_001040147:exon6:c.455-1G>T;NM_003784:exon6:c.455-1G>T;NM_001261831:exon5:c.404-1G>T;NM_001261830:exon6:c.455-1G>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.455-1G>T;ENST00000398019:exon6:c.455-1G>T;ENST00000540675:exon5:c.404-1G>T;ENST00000447428:exon6:c.455-1G>T;ENST00000546027:exon6:c.455-1G>T)	.	.	0.99995545544995	0.944
18	61465838	G	A	18	63798604	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.G455A:p.G152D;SERPINB7:NM_001261830:exon6:c.G455A:p.G152D;SERPINB7:NM_001261831:exon5:c.G404A:p.G135D;SERPINB7:NM_003784:exon6:c.G455A:p.G152D;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.G455A:p.G152D;ENSG00000166396:ENST00000540675:exon5:c.G404A:p.G135D;ENSG00000166396:ENST00000447428:exon6:c.G455A:p.G152D;ENSG00000166396:ENST00000546027:exon6:c.G455A:p.G152D;ENSG00000166396:ENST00000398019:exon6:c.G455A:p.G152D;	0.999445569044448	0.816
18	61465838	G	C	18	63798604	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.G455C:p.G152A;SERPINB7:NM_001261830:exon6:c.G455C:p.G152A;SERPINB7:NM_001261831:exon5:c.G404C:p.G135A;SERPINB7:NM_003784:exon6:c.G455C:p.G152A;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.G455C:p.G152A;ENSG00000166396:ENST00000540675:exon5:c.G404C:p.G135A;ENSG00000166396:ENST00000447428:exon6:c.G455C:p.G152A;ENSG00000166396:ENST00000546027:exon6:c.G455C:p.G152A;ENSG00000166396:ENST00000398019:exon6:c.G455C:p.G152A;	0.999355707974848	0.962
18	61465838	G	T	18	63798604	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.G455T:p.G152V;SERPINB7:NM_001261830:exon6:c.G455T:p.G152V;SERPINB7:NM_001261831:exon5:c.G404T:p.G135V;SERPINB7:NM_003784:exon6:c.G455T:p.G152V;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.G455T:p.G152V;ENSG00000166396:ENST00000540675:exon5:c.G404T:p.G135V;ENSG00000166396:ENST00000447428:exon6:c.G455T:p.G152V;ENSG00000166396:ENST00000546027:exon6:c.G455T:p.G152V;ENSG00000166396:ENST00000398019:exon6:c.G455T:p.G152V;	0.99970851522971	0.978
18	61465839	C	A	18	63798605	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon6:c.C456A:p.G152G;SERPINB7:NM_001261830:exon6:c.C456A:p.G152G;SERPINB7:NM_001261831:exon5:c.C405A:p.G135G;SERPINB7:NM_003784:exon6:c.C456A:p.G152G;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.C456A:p.G152G;ENSG00000166396:ENST00000540675:exon5:c.C405A:p.G135G;ENSG00000166396:ENST00000447428:exon6:c.C456A:p.G152G;ENSG00000166396:ENST00000546027:exon6:c.C456A:p.G152G;ENSG00000166396:ENST00000398019:exon6:c.C456A:p.G152G;	6.83140170752363E-4	0.014
18	61465839	C	G	18	63798605	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon6:c.C456G:p.G152G;SERPINB7:NM_001261830:exon6:c.C456G:p.G152G;SERPINB7:NM_001261831:exon5:c.C405G:p.G135G;SERPINB7:NM_003784:exon6:c.C456G:p.G152G;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.C456G:p.G152G;ENSG00000166396:ENST00000540675:exon5:c.C405G:p.G135G;ENSG00000166396:ENST00000447428:exon6:c.C456G:p.G152G;ENSG00000166396:ENST00000546027:exon6:c.C456G:p.G152G;ENSG00000166396:ENST00000398019:exon6:c.C456G:p.G152G;	1.21912861786282E-4	0.008
18	61465839	C	T	18	63798605	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon6:c.C456T:p.G152G;SERPINB7:NM_001261830:exon6:c.C456T:p.G152G;SERPINB7:NM_001261831:exon5:c.C405T:p.G135G;SERPINB7:NM_003784:exon6:c.C456T:p.G152G;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.C456T:p.G152G;ENSG00000166396:ENST00000540675:exon5:c.C405T:p.G135G;ENSG00000166396:ENST00000447428:exon6:c.C456T:p.G152G;ENSG00000166396:ENST00000546027:exon6:c.C456T:p.G152G;ENSG00000166396:ENST00000398019:exon6:c.C456T:p.G152G;	1.65049976918691E-4	0.002
18	61465978	A	C	18	63798744	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.A595C:p.K199Q;SERPINB7:NM_001261830:exon6:c.A595C:p.K199Q;SERPINB7:NM_001261831:exon5:c.A544C:p.K182Q;SERPINB7:NM_003784:exon6:c.A595C:p.K199Q;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.A595C:p.K199Q;ENSG00000166396:ENST00000540675:exon5:c.A544C:p.K182Q;ENSG00000166396:ENST00000546027:exon6:c.A595C:p.K199Q;ENSG00000166396:ENST00000398019:exon6:c.A595C:p.K199Q;	0.796836358471111	0.55
18	61465978	A	G	18	63798744	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.A595G:p.K199E;SERPINB7:NM_001261830:exon6:c.A595G:p.K199E;SERPINB7:NM_001261831:exon5:c.A544G:p.K182E;SERPINB7:NM_003784:exon6:c.A595G:p.K199E;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.A595G:p.K199E;ENSG00000166396:ENST00000540675:exon5:c.A544G:p.K182E;ENSG00000166396:ENST00000546027:exon6:c.A595G:p.K199E;ENSG00000166396:ENST00000398019:exon6:c.A595G:p.K199E;	0.00756105095421322	0.064
18	61465978	A	T	18	63798744	y	y	exonic	SERPINB7	stopgain SNV	SERPINB7:NM_001040147:exon6:c.A595T:p.K199X;SERPINB7:NM_001261830:exon6:c.A595T:p.K199X;SERPINB7:NM_001261831:exon5:c.A544T:p.K182X;SERPINB7:NM_003784:exon6:c.A595T:p.K199X;	exonic	ENSG00000166396	stopgain SNV	ENSG00000166396:ENST00000336429:exon6:c.A595T:p.K199X;ENSG00000166396:ENST00000540675:exon5:c.A544T:p.K182X;ENSG00000166396:ENST00000546027:exon6:c.A595T:p.K199X;ENSG00000166396:ENST00000398019:exon6:c.A595T:p.K199X;	0.943684688416915	0.638
18	61465979	A	C	18	63798745	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.A596C:p.K199T;SERPINB7:NM_001261830:exon6:c.A596C:p.K199T;SERPINB7:NM_001261831:exon5:c.A545C:p.K182T;SERPINB7:NM_003784:exon6:c.A596C:p.K199T;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.A596C:p.K199T;ENSG00000166396:ENST00000540675:exon5:c.A545C:p.K182T;ENSG00000166396:ENST00000546027:exon6:c.A596C:p.K199T;ENSG00000166396:ENST00000398019:exon6:c.A596C:p.K199T;	0.0358926379327114	0.518
18	61465979	A	G	18	63798745	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.A596G:p.K199R;SERPINB7:NM_001261830:exon6:c.A596G:p.K199R;SERPINB7:NM_001261831:exon5:c.A545G:p.K182R;SERPINB7:NM_003784:exon6:c.A596G:p.K199R;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.A596G:p.K199R;ENSG00000166396:ENST00000540675:exon5:c.A545G:p.K182R;ENSG00000166396:ENST00000546027:exon6:c.A596G:p.K199R;ENSG00000166396:ENST00000398019:exon6:c.A596G:p.K199R;	0.630163743132188	0.534
18	61465979	A	T	18	63798745	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.A596T:p.K199M;SERPINB7:NM_001261830:exon6:c.A596T:p.K199M;SERPINB7:NM_001261831:exon5:c.A545T:p.K182M;SERPINB7:NM_003784:exon6:c.A596T:p.K199M;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.A596T:p.K199M;ENSG00000166396:ENST00000540675:exon5:c.A545T:p.K182M;ENSG00000166396:ENST00000546027:exon6:c.A596T:p.K199M;ENSG00000166396:ENST00000398019:exon6:c.A596T:p.K199M;	0.439031708503295	0.66
18	61465980	G	A	18	63798746	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon6:c.G597A:p.K199K;SERPINB7:NM_001261830:exon6:c.G597A:p.K199K;SERPINB7:NM_001261831:exon5:c.G546A:p.K182K;SERPINB7:NM_003784:exon6:c.G597A:p.K199K;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.G597A:p.K199K;ENSG00000166396:ENST00000540675:exon5:c.G546A:p.K182K;ENSG00000166396:ENST00000546027:exon6:c.G597A:p.K199K;ENSG00000166396:ENST00000398019:exon6:c.G597A:p.K199K;	0.975345510650751	0.618
18	61465980	G	C	18	63798746	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.G597C:p.K199N;SERPINB7:NM_001261830:exon6:c.G597C:p.K199N;SERPINB7:NM_001261831:exon5:c.G546C:p.K182N;SERPINB7:NM_003784:exon6:c.G597C:p.K199N;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.G597C:p.K199N;ENSG00000166396:ENST00000540675:exon5:c.G546C:p.K182N;ENSG00000166396:ENST00000546027:exon6:c.G597C:p.K199N;ENSG00000166396:ENST00000398019:exon6:c.G597C:p.K199N;	0.999969346847411	0.982
18	61465980	G	T	18	63798746	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon6:c.G597T:p.K199N;SERPINB7:NM_001261830:exon6:c.G597T:p.K199N;SERPINB7:NM_001261831:exon5:c.G546T:p.K182N;SERPINB7:NM_003784:exon6:c.G597T:p.K199N;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon6:c.G597T:p.K199N;ENSG00000166396:ENST00000540675:exon5:c.G546T:p.K182N;ENSG00000166396:ENST00000546027:exon6:c.G597T:p.K199N;ENSG00000166396:ENST00000398019:exon6:c.G597T:p.K199N;	0.999934137242735	0.956
18	61465981	G	A	18	63798747	y	y	splicing	SERPINB7(NM_001040147:exon6:c.597+1G>A;NM_003784:exon6:c.597+1G>A;NM_001261831:exon5:c.546+1G>A;NM_001261830:exon6:c.597+1G>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.597+1G>A;ENST00000398019:exon6:c.597+1G>A;ENST00000540675:exon5:c.546+1G>A;ENST00000546027:exon6:c.597+1G>A)	.	.	0.99995586615188	0.948
18	61465981	G	C	18	63798747	y	y	splicing	SERPINB7(NM_001040147:exon6:c.597+1G>C;NM_003784:exon6:c.597+1G>C;NM_001261831:exon5:c.546+1G>C;NM_001261830:exon6:c.597+1G>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.597+1G>C;ENST00000398019:exon6:c.597+1G>C;ENST00000540675:exon5:c.546+1G>C;ENST00000546027:exon6:c.597+1G>C)	.	.	0.99995586615188	0.94
18	61465981	G	T	18	63798747	y	y	splicing	SERPINB7(NM_001040147:exon6:c.597+1G>T;NM_003784:exon6:c.597+1G>T;NM_001261831:exon5:c.546+1G>T;NM_001261830:exon6:c.597+1G>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.597+1G>T;ENST00000398019:exon6:c.597+1G>T;ENST00000540675:exon5:c.546+1G>T;ENST00000546027:exon6:c.597+1G>T)	.	.	0.99995586615188	0.944
18	61465982	T	A	18	63798748	y	y	splicing	SERPINB7(NM_001040147:exon6:c.597+2T>A;NM_003784:exon6:c.597+2T>A;NM_001261831:exon5:c.546+2T>A;NM_001261830:exon6:c.597+2T>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.597+2T>A;ENST00000398019:exon6:c.597+2T>A;ENST00000540675:exon5:c.546+2T>A;ENST00000546027:exon6:c.597+2T>A)	.	.	0.999946188727699	0.936
18	61465982	T	C	18	63798748	y	y	splicing	SERPINB7(NM_001040147:exon6:c.597+2T>C;NM_003784:exon6:c.597+2T>C;NM_001261831:exon5:c.546+2T>C;NM_001261830:exon6:c.597+2T>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.597+2T>C;ENST00000398019:exon6:c.597+2T>C;ENST00000540675:exon5:c.546+2T>C;ENST00000546027:exon6:c.597+2T>C)	.	.	0.969308925026203	0.632
18	61465982	T	G	18	63798748	y	y	splicing	SERPINB7(NM_001040147:exon6:c.597+2T>G;NM_003784:exon6:c.597+2T>G;NM_001261831:exon5:c.546+2T>G;NM_001261830:exon6:c.597+2T>G)	.	.	splicing	ENSG00000166396(ENST00000336429:exon6:c.597+2T>G;ENST00000398019:exon6:c.597+2T>G;ENST00000540675:exon5:c.546+2T>G;ENST00000546027:exon6:c.597+2T>G)	.	.	0.999964896440643	0.934
18	61465983	A	C	18	63798749	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.988403303585818	0.65
18	61465983	A	G	18	63798749	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0872429742614248	0.48
18	61465983	A	T	18	63798749	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.463891185879871	0.462
18	61465984	T	A	18	63798750	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.71490773535292E-5	0.018
18	61465984	T	C	18	63798750	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.67225638057871E-5	0.0
18	61465984	T	G	18	63798750	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.85100310417173E-5	0.002
18	61465985	G	A	18	63798751	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.439610270987457	0.348
18	61465985	G	C	18	63798751	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0860907732049758	0.372
18	61465985	G	T	18	63798751	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.120978600684514	0.336
18	61465986	T	A	18	63798752	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.12400581591563E-4	0.07
18	61465986	T	C	18	63798752	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	8.78467295491443E-4	0.062
18	61465986	T	G	18	63798752	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.03214831544068E-4	0.04
18	61465987	C	A	18	63798753	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.68246148945225E-5	0.004
18	61465987	C	G	18	63798753	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.68246148945225E-5	0.004
18	61465987	C	T	18	63798753	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.90452668900936E-5	0.004
18	61465988	G	A	18	63798754	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00382039362730603	0.038
18	61465988	G	C	18	63798754	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00277505804711249	0.036
18	61465988	G	T	18	63798754	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00373299860775889	0.05
18	61468088	C	A	18	63800854	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00183641596079072	0.15
18	61468088	C	G	18	63800854	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999298019373078	0.94
18	61468088	C	T	18	63800854	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.12359801087648E-5	0.0
18	61468089	T	A	18	63800855	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.98112875339508	0.858
18	61468089	T	C	18	63800855	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.080420723264437	0.252
18	61468089	T	G	18	63800855	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.960455340009564	0.816
18	61468090	T	A	18	63800856	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999914655372917	0.94
18	61468090	T	C	18	63800856	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.001441808040543	0.124
18	61468090	T	G	18	63800856	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.512949571032822	0.55
18	61468091	G	A	18	63800857	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.97909830304829E-4	0.106
18	61468091	G	C	18	63800857	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.93569972598795E-5	0.016
18	61468091	G	T	18	63800857	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.93569972598795E-5	0.056
18	61468092	A	C	18	63800858	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	3.07953345859041E-4	0.014
18	61468092	A	G	18	63800858	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00126707705357895	0.008
18	61468092	A	T	18	63800858	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.13302198209288E-4	0.018
18	61468093	C	A	18	63800859	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.1187031356413E-4	0.164
18	61468093	C	G	18	63800859	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999933809066782	0.962
18	61468093	C	T	18	63800859	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.12909058588245E-5	0.01
18	61468094	T	A	18	63800860	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.98551192928468	0.726
18	61468094	T	C	18	63800860	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00332067935810043	0.172
18	61468094	T	G	18	63800860	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.978771355799262	0.72
18	61468095	T	A	18	63800861	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.876473004107459	0.64
18	61468095	T	C	18	63800861	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0141042358782053	0.186
18	61468095	T	G	18	63800861	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.869255278323884	0.596
18	61468096	T	A	18	63800862	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	5.05371044400942E-5	0.002
18	61468096	T	C	18	63800862	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.08514177649124E-4	0.028
18	61468096	T	G	18	63800862	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.84197100436456E-4	0.036
18	61468097	C	A	18	63800863	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.990368104385761	0.87
18	61468097	C	G	18	63800863	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999952245481283	0.986
18	61468097	C	T	18	63800863	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0429227841660705	0.212
18	61468098	A	C	18	63800864	y	y	splicing	SERPINB7(NM_001040147:exon7:c.598-2A>C;NM_003784:exon7:c.598-2A>C;NM_001261831:exon6:c.547-2A>C;NM_001261830:exon7:c.598-2A>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.598-2A>C;ENST00000398019:exon7:c.598-2A>C;ENST00000540675:exon6:c.547-2A>C;ENST00000546027:exon7:c.598-2A>C)	.	.	0.999988624979899	0.944
18	61468098	A	G	18	63800864	y	y	splicing	SERPINB7(NM_001040147:exon7:c.598-2A>G;NM_003784:exon7:c.598-2A>G;NM_001261831:exon6:c.547-2A>G;NM_001261830:exon7:c.598-2A>G)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.598-2A>G;ENST00000398019:exon7:c.598-2A>G;ENST00000540675:exon6:c.547-2A>G;ENST00000546027:exon7:c.598-2A>G)	.	.	0.999988624979899	0.944
18	61468098	A	T	18	63800864	y	y	splicing	SERPINB7(NM_001040147:exon7:c.598-2A>T;NM_003784:exon7:c.598-2A>T;NM_001261831:exon6:c.547-2A>T;NM_001261830:exon7:c.598-2A>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.598-2A>T;ENST00000398019:exon7:c.598-2A>T;ENST00000540675:exon6:c.547-2A>T;ENST00000546027:exon7:c.598-2A>T)	.	.	0.999988624979899	0.944
18	61468099	G	A	18	63800865	y	y	splicing	SERPINB7(NM_001040147:exon7:c.598-1G>A;NM_003784:exon7:c.598-1G>A;NM_001261831:exon6:c.547-1G>A;NM_001261830:exon7:c.598-1G>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.598-1G>A;ENST00000398019:exon7:c.598-1G>A;ENST00000540675:exon6:c.547-1G>A;ENST00000546027:exon7:c.598-1G>A)	.	.	0.999979422316293	0.944
18	61468099	G	C	18	63800865	y	y	splicing	SERPINB7(NM_001040147:exon7:c.598-1G>C;NM_003784:exon7:c.598-1G>C;NM_001261831:exon6:c.547-1G>C;NM_001261830:exon7:c.598-1G>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.598-1G>C;ENST00000398019:exon7:c.598-1G>C;ENST00000540675:exon6:c.547-1G>C;ENST00000546027:exon7:c.598-1G>C)	.	.	0.999979422316293	0.944
18	61468099	G	T	18	63800865	y	y	splicing	SERPINB7(NM_001040147:exon7:c.598-1G>T;NM_003784:exon7:c.598-1G>T;NM_001261831:exon6:c.547-1G>T;NM_001261830:exon7:c.598-1G>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.598-1G>T;ENST00000398019:exon7:c.598-1G>T;ENST00000540675:exon6:c.547-1G>T;ENST00000546027:exon7:c.598-1G>T)	.	.	0.999979422316293	0.944
18	61468100	T	A	18	63800866	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.T598A:p.C200S;SERPINB7:NM_001261830:exon7:c.T598A:p.C200S;SERPINB7:NM_001261831:exon6:c.T547A:p.C183S;SERPINB7:NM_003784:exon7:c.T598A:p.C200S;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.T598A:p.C200S;ENSG00000166396:ENST00000540675:exon6:c.T547A:p.C183S;ENSG00000166396:ENST00000546027:exon7:c.T598A:p.C200S;ENSG00000166396:ENST00000398019:exon7:c.T598A:p.C200S;	0.108091549999627	0.398
18	61468100	T	C	18	63800866	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.T598C:p.C200R;SERPINB7:NM_001261830:exon7:c.T598C:p.C200R;SERPINB7:NM_001261831:exon6:c.T547C:p.C183R;SERPINB7:NM_003784:exon7:c.T598C:p.C200R;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.T598C:p.C200R;ENSG00000166396:ENST00000540675:exon6:c.T547C:p.C183R;ENSG00000166396:ENST00000546027:exon7:c.T598C:p.C200R;ENSG00000166396:ENST00000398019:exon7:c.T598C:p.C200R;	0.434806744697457	0.494
18	61468100	T	G	18	63800866	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.T598G:p.C200G;SERPINB7:NM_001261830:exon7:c.T598G:p.C200G;SERPINB7:NM_001261831:exon6:c.T547G:p.C183G;SERPINB7:NM_003784:exon7:c.T598G:p.C200G;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.T598G:p.C200G;ENSG00000166396:ENST00000540675:exon6:c.T547G:p.C183G;ENSG00000166396:ENST00000546027:exon7:c.T598G:p.C200G;ENSG00000166396:ENST00000398019:exon7:c.T598G:p.C200G;	5.69366755957332E-4	0.122
18	61468101	G	A	18	63800867	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.G599A:p.C200Y;SERPINB7:NM_001261830:exon7:c.G599A:p.C200Y;SERPINB7:NM_001261831:exon6:c.G548A:p.C183Y;SERPINB7:NM_003784:exon7:c.G599A:p.C200Y;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.G599A:p.C200Y;ENSG00000166396:ENST00000540675:exon6:c.G548A:p.C183Y;ENSG00000166396:ENST00000546027:exon7:c.G599A:p.C200Y;ENSG00000166396:ENST00000398019:exon7:c.G599A:p.C200Y;	0.979068008596948	0.758
18	61468101	G	C	18	63800867	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.G599C:p.C200S;SERPINB7:NM_001261830:exon7:c.G599C:p.C200S;SERPINB7:NM_001261831:exon6:c.G548C:p.C183S;SERPINB7:NM_003784:exon7:c.G599C:p.C200S;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.G599C:p.C200S;ENSG00000166396:ENST00000540675:exon6:c.G548C:p.C183S;ENSG00000166396:ENST00000546027:exon7:c.G599C:p.C200S;ENSG00000166396:ENST00000398019:exon7:c.G599C:p.C200S;	0.792339757141586	0.576
18	61468101	G	T	18	63800867	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.G599T:p.C200F;SERPINB7:NM_001261830:exon7:c.G599T:p.C200F;SERPINB7:NM_001261831:exon6:c.G548T:p.C183F;SERPINB7:NM_003784:exon7:c.G599T:p.C200F;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.G599T:p.C200F;ENSG00000166396:ENST00000540675:exon6:c.G548T:p.C183F;ENSG00000166396:ENST00000546027:exon7:c.G599T:p.C200F;ENSG00000166396:ENST00000398019:exon7:c.G599T:p.C200F;	0.974181406619943	0.768
18	61468244	G	A	18	63801010	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.G742A:p.E248K;SERPINB7:NM_001261830:exon7:c.G742A:p.E248K;SERPINB7:NM_001261831:exon6:c.G691A:p.E231K;SERPINB7:NM_003784:exon7:c.G742A:p.E248K;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.G742A:p.E248K;ENSG00000166396:ENST00000540675:exon6:c.G691A:p.E231K;ENSG00000166396:ENST00000546027:exon7:c.G742A:p.E248K;ENSG00000166396:ENST00000398019:exon7:c.G742A:p.E248K;	9.34989815912317E-5	0.026
18	61468244	G	C	18	63801010	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.G742C:p.E248Q;SERPINB7:NM_001261830:exon7:c.G742C:p.E248Q;SERPINB7:NM_001261831:exon6:c.G691C:p.E231Q;SERPINB7:NM_003784:exon7:c.G742C:p.E248Q;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.G742C:p.E248Q;ENSG00000166396:ENST00000540675:exon6:c.G691C:p.E231Q;ENSG00000166396:ENST00000546027:exon7:c.G742C:p.E248Q;ENSG00000166396:ENST00000398019:exon7:c.G742C:p.E248Q;	9.76700570094118E-5	0.01
18	61468244	G	T	18	63801010	y	y	exonic	SERPINB7	stopgain SNV	SERPINB7:NM_001040147:exon7:c.G742T:p.E248X;SERPINB7:NM_001261830:exon7:c.G742T:p.E248X;SERPINB7:NM_001261831:exon6:c.G691T:p.E231X;SERPINB7:NM_003784:exon7:c.G742T:p.E248X;	exonic	ENSG00000166396	stopgain SNV	ENSG00000166396:ENST00000336429:exon7:c.G742T:p.E248X;ENSG00000166396:ENST00000540675:exon6:c.G691T:p.E231X;ENSG00000166396:ENST00000546027:exon7:c.G742T:p.E248X;ENSG00000166396:ENST00000398019:exon7:c.G742T:p.E248X;	0.0281625818729081	0.266
18	61468245	A	C	18	63801011	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.A743C:p.E248A;SERPINB7:NM_001261830:exon7:c.A743C:p.E248A;SERPINB7:NM_001261831:exon6:c.A692C:p.E231A;SERPINB7:NM_003784:exon7:c.A743C:p.E248A;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.A743C:p.E248A;ENSG00000166396:ENST00000540675:exon6:c.A692C:p.E231A;ENSG00000166396:ENST00000546027:exon7:c.A743C:p.E248A;ENSG00000166396:ENST00000398019:exon7:c.A743C:p.E248A;	0.995234982056222	0.946
18	61468245	A	G	18	63801011	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.A743G:p.E248G;SERPINB7:NM_001261830:exon7:c.A743G:p.E248G;SERPINB7:NM_001261831:exon6:c.A692G:p.E231G;SERPINB7:NM_003784:exon7:c.A743G:p.E248G;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.A743G:p.E248G;ENSG00000166396:ENST00000540675:exon6:c.A692G:p.E231G;ENSG00000166396:ENST00000546027:exon7:c.A743G:p.E248G;ENSG00000166396:ENST00000398019:exon7:c.A743G:p.E248G;	0.994584311843308	0.92
18	61468245	A	T	18	63801011	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.A743T:p.E248V;SERPINB7:NM_001261830:exon7:c.A743T:p.E248V;SERPINB7:NM_001261831:exon6:c.A692T:p.E231V;SERPINB7:NM_003784:exon7:c.A743T:p.E248V;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.A743T:p.E248V;ENSG00000166396:ENST00000540675:exon6:c.A692T:p.E231V;ENSG00000166396:ENST00000546027:exon7:c.A743T:p.E248V;ENSG00000166396:ENST00000398019:exon7:c.A743T:p.E248V;	0.999032193681857	0.944
18	61468246	A	C	18	63801012	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.A744C:p.E248D;SERPINB7:NM_001261830:exon7:c.A744C:p.E248D;SERPINB7:NM_001261831:exon6:c.A693C:p.E231D;SERPINB7:NM_003784:exon7:c.A744C:p.E248D;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.A744C:p.E248D;ENSG00000166396:ENST00000540675:exon6:c.A693C:p.E231D;ENSG00000166396:ENST00000546027:exon7:c.A744C:p.E248D;ENSG00000166396:ENST00000398019:exon7:c.A744C:p.E248D;	7.21871464119538E-4	0.132
18	61468246	A	G	18	63801012	y	y	exonic	SERPINB7	synonymous SNV	SERPINB7:NM_001040147:exon7:c.A744G:p.E248E;SERPINB7:NM_001261830:exon7:c.A744G:p.E248E;SERPINB7:NM_001261831:exon6:c.A693G:p.E231E;SERPINB7:NM_003784:exon7:c.A744G:p.E248E;	exonic	ENSG00000166396	synonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.A744G:p.E248E;ENSG00000166396:ENST00000540675:exon6:c.A693G:p.E231E;ENSG00000166396:ENST00000546027:exon7:c.A744G:p.E248E;ENSG00000166396:ENST00000398019:exon7:c.A744G:p.E248E;	4.64717620768892E-5	0.062
18	61468246	A	T	18	63801012	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon7:c.A744T:p.E248D;SERPINB7:NM_001261830:exon7:c.A744T:p.E248D;SERPINB7:NM_001261831:exon6:c.A693T:p.E231D;SERPINB7:NM_003784:exon7:c.A744T:p.E248D;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon7:c.A744T:p.E248D;ENSG00000166396:ENST00000540675:exon6:c.A693T:p.E231D;ENSG00000166396:ENST00000546027:exon7:c.A744T:p.E248D;ENSG00000166396:ENST00000398019:exon7:c.A744T:p.E248D;	1.49795536805636E-4	0.05
18	61468247	G	A	18	63801013	y	y	splicing	SERPINB7(NM_001040147:exon7:c.744+1G>A;NM_003784:exon7:c.744+1G>A;NM_001261831:exon6:c.693+1G>A;NM_001261830:exon7:c.744+1G>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.744+1G>A;ENST00000398019:exon7:c.744+1G>A;ENST00000540675:exon6:c.693+1G>A;ENST00000546027:exon7:c.744+1G>A)	.	.	0.999962153403958	0.87
18	61468247	G	C	18	63801013	y	y	splicing	SERPINB7(NM_001040147:exon7:c.744+1G>C;NM_003784:exon7:c.744+1G>C;NM_001261831:exon6:c.693+1G>C;NM_001261830:exon7:c.744+1G>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.744+1G>C;ENST00000398019:exon7:c.744+1G>C;ENST00000540675:exon6:c.693+1G>C;ENST00000546027:exon7:c.744+1G>C)	.	.	0.999962153403958	0.864
18	61468247	G	T	18	63801013	y	y	splicing	SERPINB7(NM_001040147:exon7:c.744+1G>T;NM_003784:exon7:c.744+1G>T;NM_001261831:exon6:c.693+1G>T;NM_001261830:exon7:c.744+1G>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.744+1G>T;ENST00000398019:exon7:c.744+1G>T;ENST00000540675:exon6:c.693+1G>T;ENST00000546027:exon7:c.744+1G>T)	.	.	0.999962153403958	0.874
18	61468248	T	A	18	63801014	y	y	splicing	SERPINB7(NM_001040147:exon7:c.744+2T>A;NM_003784:exon7:c.744+2T>A;NM_001261831:exon6:c.693+2T>A;NM_001261830:exon7:c.744+2T>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.744+2T>A;ENST00000398019:exon7:c.744+2T>A;ENST00000540675:exon6:c.693+2T>A;ENST00000546027:exon7:c.744+2T>A)	.	.	0.999972155025474	0.866
18	61468248	T	C	18	63801014	y	y	splicing	SERPINB7(NM_001040147:exon7:c.744+2T>C;NM_003784:exon7:c.744+2T>C;NM_001261831:exon6:c.693+2T>C;NM_001261830:exon7:c.744+2T>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.744+2T>C;ENST00000398019:exon7:c.744+2T>C;ENST00000540675:exon6:c.693+2T>C;ENST00000546027:exon7:c.744+2T>C)	.	.	0.941262618117329	0.556
18	61468248	T	G	18	63801014	y	y	splicing	SERPINB7(NM_001040147:exon7:c.744+2T>G;NM_003784:exon7:c.744+2T>G;NM_001261831:exon6:c.693+2T>G;NM_001261830:exon7:c.744+2T>G)	.	.	splicing	ENSG00000166396(ENST00000336429:exon7:c.744+2T>G;ENST00000398019:exon7:c.744+2T>G;ENST00000540675:exon6:c.693+2T>G;ENST00000546027:exon7:c.744+2T>G)	.	.	0.999969255906173	0.842
18	61468249	A	C	18	63801015	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999808968389623	0.878
18	61468249	A	G	18	63801015	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0418701223135448	0.282
18	61468249	A	T	18	63801015	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.998518539494544	0.872
18	61468250	A	C	18	63801016	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.409635314991838	0.474
18	61468250	A	G	18	63801016	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.951780809583686	0.732
18	61468250	A	T	18	63801016	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.534472732474735	0.548
18	61468251	G	A	18	63801017	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.993272155107261	0.758
18	61468251	G	C	18	63801017	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999008872429313	0.802
18	61468251	G	T	18	63801017	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999806710962482	0.776
18	61468252	T	A	18	63801018	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.943987953426952	0.558
18	61468252	T	C	18	63801018	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.406147564171508	0.556
18	61468252	T	G	18	63801018	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.516737835189677	0.524
18	61468253	T	A	18	63801019	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	4.18168700964336E-5	0.0
18	61468253	T	C	18	63801019	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.81474896170976E-5	0.0
18	61468253	T	G	18	63801019	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.81474896170976E-5	0.0
18	61468254	A	C	18	63801020	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.3995392500311E-5	0.002
18	61468254	A	G	18	63801020	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.455930068921E-5	0.0
18	61468254	A	T	18	63801020	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.43949593129782E-5	0.0
18	61471459	T	A	18	63804225	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00518126542789471	0.148
18	61471459	T	C	18	63804225	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.10279360017196E-4	0.004
18	61471459	T	G	18	63804225	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.997681383401429	0.868
18	61471460	T	A	18	63804226	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.75083324710548	0.714
18	61471460	T	C	18	63804226	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00202413288847597	0.098
18	61471460	T	G	18	63804226	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.793122258657324	0.664
18	61471461	A	C	18	63804227	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.16234948548034E-5	0.0
18	61471461	A	G	18	63804227	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.32976419764507E-4	0.006
18	61471461	A	T	18	63804227	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.16234948548034E-5	0.006
18	61471462	T	A	18	63804228	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.998779521903803	0.822
18	61471462	T	C	18	63804228	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.459957558236429	0.42
18	61471462	T	G	18	63804228	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.999963912243304	0.966
18	61471463	T	A	18	63804229	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0272246799710282	0.196
18	61471463	T	C	18	63804229	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.7493261319362E-4	0.002
18	61471463	T	G	18	63804229	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00757343588720358	0.166
18	61471464	T	A	18	63804230	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0156211942041177	0.204
18	61471464	T	C	18	63804230	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.94396332908424E-4	0.006
18	61471464	T	G	18	63804230	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0160708021783555	0.156
18	61471465	T	A	18	63804231	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0297288103168765	0.268
18	61471465	T	C	18	63804231	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	2.42746526125956E-4	0.028
18	61471465	T	G	18	63804231	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0641530240537009	0.334
18	61471466	T	A	18	63804232	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.815812304315676	0.626
18	61471466	T	C	18	63804232	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.00850705032374402	0.21
18	61471466	T	G	18	63804232	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.637123647581784	0.626
18	61471467	A	C	18	63804233	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.36476479267653E-4	0.018
18	61471467	A	G	18	63804233	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	1.067881501994E-4	0.024
18	61471467	A	T	18	63804233	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	6.18278315184895E-5	0.004
18	61471468	C	A	18	63804234	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.907381566598092	0.778
18	61471468	C	G	18	63804234	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.99937603551047	0.972
18	61471468	C	T	18	63804234	y	y	intronic	SERPINB7	.	.	intronic	ENSG00000166396	.	.	0.0120285771491028	0.046
18	61471469	A	C	18	63804235	y	y	splicing	SERPINB7(NM_001040147:exon8:c.745-2A>C;NM_003784:exon8:c.745-2A>C;NM_001261831:exon7:c.694-2A>C;NM_001261830:exon8:c.745-2A>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon8:c.745-2A>C;ENST00000398019:exon8:c.745-2A>C;ENST00000540675:exon7:c.694-2A>C;ENST00000546027:exon8:c.745-2A>C)	.	.	0.999988247793601	0.928
18	61471469	A	G	18	63804235	y	y	splicing	SERPINB7(NM_001040147:exon8:c.745-2A>G;NM_003784:exon8:c.745-2A>G;NM_001261831:exon7:c.694-2A>G;NM_001261830:exon8:c.745-2A>G)	.	.	splicing	ENSG00000166396(ENST00000336429:exon8:c.745-2A>G;ENST00000398019:exon8:c.745-2A>G;ENST00000540675:exon7:c.694-2A>G;ENST00000546027:exon8:c.745-2A>G)	.	.	0.999988247793601	0.928
18	61471469	A	T	18	63804235	y	y	splicing	SERPINB7(NM_001040147:exon8:c.745-2A>T;NM_003784:exon8:c.745-2A>T;NM_001261831:exon7:c.694-2A>T;NM_001261830:exon8:c.745-2A>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon8:c.745-2A>T;ENST00000398019:exon8:c.745-2A>T;ENST00000540675:exon7:c.694-2A>T;ENST00000546027:exon8:c.745-2A>T)	.	.	0.999988247793601	0.928
18	61471470	G	A	18	63804236	y	y	splicing	SERPINB7(NM_001040147:exon8:c.745-1G>A;NM_003784:exon8:c.745-1G>A;NM_001261831:exon7:c.694-1G>A;NM_001261830:exon8:c.745-1G>A)	.	.	splicing	ENSG00000166396(ENST00000336429:exon8:c.745-1G>A;ENST00000398019:exon8:c.745-1G>A;ENST00000540675:exon7:c.694-1G>A;ENST00000546027:exon8:c.745-1G>A)	.	.	0.999990361384395	0.938
18	61471470	G	C	18	63804236	y	y	splicing	SERPINB7(NM_001040147:exon8:c.745-1G>C;NM_003784:exon8:c.745-1G>C;NM_001261831:exon7:c.694-1G>C;NM_001261830:exon8:c.745-1G>C)	.	.	splicing	ENSG00000166396(ENST00000336429:exon8:c.745-1G>C;ENST00000398019:exon8:c.745-1G>C;ENST00000540675:exon7:c.694-1G>C;ENST00000546027:exon8:c.745-1G>C)	.	.	0.999990361384395	0.936
18	61471470	G	T	18	63804236	y	y	splicing	SERPINB7(NM_001040147:exon8:c.745-1G>T;NM_003784:exon8:c.745-1G>T;NM_001261831:exon7:c.694-1G>T;NM_001261830:exon8:c.745-1G>T)	.	.	splicing	ENSG00000166396(ENST00000336429:exon8:c.745-1G>T;ENST00000398019:exon8:c.745-1G>T;ENST00000540675:exon7:c.694-1G>T;ENST00000546027:exon8:c.745-1G>T)	.	.	0.999990361384395	0.936
18	61471471	A	C	18	63804237	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon8:c.A745C:p.I249L;SERPINB7:NM_001261830:exon8:c.A745C:p.I249L;SERPINB7:NM_001261831:exon7:c.A694C:p.I232L;SERPINB7:NM_003784:exon8:c.A745C:p.I249L;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon8:c.A745C:p.I249L;ENSG00000166396:ENST00000540675:exon7:c.A694C:p.I232L;ENSG00000166396:ENST00000546027:exon8:c.A745C:p.I249L;ENSG00000166396:ENST00000398019:exon8:c.A745C:p.I249L;	3.29602082180341E-4	0.022
18	61471471	A	G	18	63804237	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon8:c.A745G:p.I249V;SERPINB7:NM_001261830:exon8:c.A745G:p.I249V;SERPINB7:NM_001261831:exon7:c.A694G:p.I232V;SERPINB7:NM_003784:exon8:c.A745G:p.I249V;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon8:c.A745G:p.I249V;ENSG00000166396:ENST00000540675:exon7:c.A694G:p.I232V;ENSG00000166396:ENST00000546027:exon8:c.A745G:p.I249V;ENSG00000166396:ENST00000398019:exon8:c.A745G:p.I249V;	1.98301971714204E-5	0.002
18	61471471	A	T	18	63804237	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon8:c.A745T:p.I249F;SERPINB7:NM_001261830:exon8:c.A745T:p.I249F;SERPINB7:NM_001261831:exon7:c.A694T:p.I232F;SERPINB7:NM_003784:exon8:c.A745T:p.I249F;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon8:c.A745T:p.I249F;ENSG00000166396:ENST00000540675:exon7:c.A694T:p.I232F;ENSG00000166396:ENST00000546027:exon8:c.A745T:p.I249F;ENSG00000166396:ENST00000398019:exon8:c.A745T:p.I249F;	6.78513196819943E-5	0.162
18	61471472	T	A	18	63804238	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon8:c.T746A:p.I249N;SERPINB7:NM_001261830:exon8:c.T746A:p.I249N;SERPINB7:NM_001261831:exon7:c.T695A:p.I232N;SERPINB7:NM_003784:exon8:c.T746A:p.I249N;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon8:c.T746A:p.I249N;ENSG00000166396:ENST00000540675:exon7:c.T695A:p.I232N;ENSG00000166396:ENST00000546027:exon8:c.T746A:p.I249N;ENSG00000166396:ENST00000398019:exon8:c.T746A:p.I249N;	0.0598554427924998	0.138
18	61471472	T	C	18	63804238	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon8:c.T746C:p.I249T;SERPINB7:NM_001261830:exon8:c.T746C:p.I249T;SERPINB7:NM_001261831:exon7:c.T695C:p.I232T;SERPINB7:NM_003784:exon8:c.T746C:p.I249T;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon8:c.T746C:p.I249T;ENSG00000166396:ENST00000540675:exon7:c.T695C:p.I232T;ENSG00000166396:ENST00000546027:exon8:c.T746C:p.I249T;ENSG00000166396:ENST00000398019:exon8:c.T746C:p.I249T;	0.0500552897357133	0.188
18	61471472	T	G	18	63804238	y	y	exonic	SERPINB7	nonsynonymous SNV	SERPINB7:NM_001040147:exon8:c.T746G:p.I249S;SERPINB7:NM_001261830:exon8:c.T746G:p.I249S;SERPINB7:NM_001261831:exon7:c.T695G:p.I232S;SERPINB7:NM_003784:exon8:c.T746G:p.I249S;	exonic	ENSG00000166396	nonsynonymous SNV	ENSG00000166396:ENST00000336429:exon8:c.T746G:p.I249S;ENSG00000166396:ENST00000540675:exon7:c.T695G:p.I232S;ENSG00000166396:ENST00000546027:exon8:c.T746G:p.I249S;ENSG00000166396:ENST00000398019:exon8:c.T746G:p.I249S;	0.0166633629035029	0.166
18	61555002	C	A	18	63887768	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	3.92287700572324E-5	0.006
18	61555002	C	G	18	63887768	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	2.41067755222246E-5	0.022
18	61555002	C	T	18	63887768	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	0.0211648983977597	0.14
18	61555003	A	C	18	63887769	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	0.983566354561357	0.846
18	61555003	A	G	18	63887769	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	0.963235579670701	0.784
18	61555003	A	T	18	63887769	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	0.994892012659823	0.84
18	61555004	G	A	18	63887770	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	0.999981673725663	0.974
18	61555004	G	C	18	63887770	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	0.999979423445808	0.972
18	61555004	G	T	18	63887770	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	0.999969940743432	0.962
18	61555005	G	A	18	63887771	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999981332798982	0.75
18	61555005	G	C	18	63887771	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999971745822287	0.772
18	61555005	G	T	18	63887771	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999985250677267	0.758
18	61555006	T	A	18	63887772	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999969255906173	0.862
18	61555006	T	C	18	63887772	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.923130338100582	0.63
18	61555006	T	G	18	63887772	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999962958601995	0.848
18	61555007	A	C	18	63887773	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.999828580778091	0.938
18	61555007	A	G	18	63887773	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.99847385479431	0.73
18	61555007	A	T	18	63887773	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.998352959212324	0.868
18	61555008	T	A	18	63887774	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.38856255647399E-4	0.18
18	61555008	T	C	18	63887774	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.98297603681536E-4	0.024
18	61555008	T	G	18	63887774	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.37595849432028E-4	0.012
18	61555009	T	A	18	63887775	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.96489373561108E-4	0.008
18	61555009	T	C	18	63887775	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.11880565011067E-4	0.026
18	61555009	T	G	18	63887775	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.35647877310963E-4	0.062
18	61555010	T	A	18	63887776	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.74029476077351E-4	0.058
18	61555010	T	C	18	63887776	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.64569525567057E-4	0.088
18	61555010	T	G	18	63887776	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.2989156342339E-5	0.072
18	61555011	C	A	18	63887777	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0130127222004884	0.094
18	61555011	C	G	18	63887777	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0117759771610592	0.096
18	61555011	C	T	18	63887777	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00426022054804651	0.116
18	61555012	A	C	18	63887778	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.86686443874187E-5	0.002
18	61555012	A	G	18	63887778	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.79483932285149E-5	0.0
18	61555012	A	T	18	63887778	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.86686443874187E-5	0.0
18	61557060	T	A	18	63889826	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.31524023438878E-4	0.028
18	61557060	T	C	18	63889826	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.44319604211537E-4	0.044
18	61557060	T	G	18	63889826	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.44319604211537E-4	0.054
18	61557061	C	A	18	63889827	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.47792683836023E-5	0.002
18	61557061	C	G	18	63889827	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.47792683836023E-5	0.002
18	61557061	C	T	18	63889827	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.47792683836023E-5	0.002
18	61557062	C	A	18	63889828	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.44013842554134E-5	0.078
18	61557062	C	G	18	63889828	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.44013842554134E-5	0.078
18	61557062	C	T	18	63889828	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.44013842554134E-5	0.078
18	61557063	T	A	18	63889829	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.45405907818794E-5	0.008
18	61557063	T	C	18	63889829	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.61811153049764E-5	0.006
18	61557063	T	G	18	63889829	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.61811153049764E-5	0.006
18	61557064	C	A	18	63889830	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.78793180316552E-5	0.058
18	61557064	C	G	18	63889830	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.78793180316552E-5	0.058
18	61557064	C	T	18	63889830	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.78793180316552E-5	0.058
18	61557065	T	A	18	63889831	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.28285392482944E-4	0.096
18	61557065	T	C	18	63889831	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.28285392482944E-4	0.048
18	61557065	T	G	18	63889831	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.28285392482944E-4	0.048
18	61557066	T	A	18	63889832	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.31524023438878E-4	0.014
18	61557066	T	C	18	63889832	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.31524023438878E-4	0.016
18	61557066	T	G	18	63889832	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.31524023438878E-4	0.016
18	61557067	T	A	18	63889833	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	9.59360374706247E-5	0.008
18	61557067	T	C	18	63889833	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.28285392482944E-4	0.096
18	61557067	T	G	18	63889833	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.28285392482944E-4	0.088
18	61557068	C	A	18	63889834	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.55166398316256E-5	0.008
18	61557068	C	G	18	63889834	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.55166398316256E-5	0.008
18	61557068	C	T	18	63889834	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.55166398316256E-5	0.008
18	61557069	T	A	18	63889835	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.40063699135737E-5	0.0
18	61557069	T	C	18	63889835	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.40063699135737E-5	0.0
18	61557069	T	G	18	63889835	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.40063699135737E-5	0.0
18	61557070	A	C	18	63889836	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	5.39620844240244E-5	0.002
18	61557070	A	G	18	63889836	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	5.39620844240244E-5	0.0
18	61557070	A	T	18	63889836	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	6.14850402615726E-5	0.0
18	61557071	G	A	18	63889837	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	4.09828708177445E-5	0.0
18	61557071	G	C	18	63889837	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	3.79815302939872E-5	0.0
18	61557071	G	T	18	63889837	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	3.79815302939872E-5	0.0
18	61557072	C	A	18	63889838	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	3.37582853480714E-5	0.0
18	61557072	C	G	18	63889838	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	3.37582853480714E-5	0.0
18	61557072	C	T	18	63889838	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	3.37582853480714E-5	0.0
18	61557073	A	C	18	63889839	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	2.96404089075045E-5	0.002
18	61557073	A	G	18	63889839	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	2.96404089075045E-5	0.002
18	61557073	A	T	18	63889839	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	2.96404089075045E-5	0.006
18	61557327	G	A	18	63890093	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	6.38113264713725E-5	0.012
18	61557327	G	C	18	63890093	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	6.38113264713725E-5	0.014
18	61557327	G	T	18	63890093	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	6.38113264713725E-5	0.012
18	61557328	A	C	18	63890094	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	3.9469183429777E-5	0.0
18	61557328	A	G	18	63890094	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	3.9469183429777E-5	0.0
18	61557328	A	T	18	63890094	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	3.9469183429777E-5	0.0
18	61557329	G	A	18	63890095	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	5.37205498882069E-5	0.0
18	61557329	G	C	18	63890095	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	4.97864243205666E-5	0.0
18	61557329	G	T	18	63890095	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	4.97864243205666E-5	0.0
18	61557330	G	A	18	63890096	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	8.35520562038957E-5	0.0
18	61557330	G	C	18	63890096	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	8.35520562038957E-5	0.0
18	61557330	G	T	18	63890096	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	8.35520562038957E-5	0.004
18	61557331	T	A	18	63890097	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	4.1020973109669E-5	0.0
18	61557331	T	C	18	63890097	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	2.256915070725E-5	0.0
18	61557331	T	G	18	63890097	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	2.256915070725E-5	0.0
18	61557332	G	A	18	63890098	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.77382407657072E-5	0.006
18	61557332	G	C	18	63890098	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.49745092444763E-5	0.0
18	61557332	G	T	18	63890098	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.77382407657072E-5	0.0
18	61557333	A	C	18	63890099	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.14301101535901E-5	0.0
18	61557333	A	G	18	63890099	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.14301101535901E-5	0.0
18	61557333	A	T	18	63890099	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.14301101535901E-5	0.0
18	61557334	G	A	18	63890100	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.68952365742707E-5	0.004
18	61557334	G	C	18	63890100	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.68952365742707E-5	0.002
18	61557334	G	T	18	63890100	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.68952365742707E-5	0.006
18	61557335	A	C	18	63890101	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.89925739660516E-5	0.006
18	61557335	A	G	18	63890101	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.89925739660516E-5	0.006
18	61557335	A	T	18	63890101	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.89925739660516E-5	0.008
18	61557336	G	A	18	63890102	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.57076726553018E-5	0.0
18	61557336	G	C	18	63890102	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.7749166663215E-5	0.002
18	61557336	G	T	18	63890102	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.7749166663215E-5	0.034
18	61557337	A	C	18	63890103	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.36340088948343E-5	0.022
18	61557337	A	G	18	63890103	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.36340088948343E-5	0.016
18	61557337	A	T	18	63890103	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.7586829694842E-5	0.0
18	61558132	A	C	18	63890898	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	6.89925739660516E-5	0.004
18	61558132	A	G	18	63890898	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	6.89925739660516E-5	0.004
18	61558132	A	T	18	63890898	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	6.89925739660516E-5	0.104
18	61558133	A	C	18	63890899	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	5.15941453541388E-5	0.014
18	61558133	A	G	18	63890899	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	5.15941453541388E-5	0.016
18	61558133	A	T	18	63890899	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	5.15941453541388E-5	0.004
18	61558134	G	A	18	63890900	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	4.97864243205666E-5	0.0
18	61558134	G	C	18	63890900	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	3.22319008290309E-5	0.0
18	61558134	G	T	18	63890900	n	y	intronic	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	4.97864243205666E-5	0.0
18	61558135	G	A	18	63890901	n	y	intronic	SERPINB2	.	.	splicing	ENSG00000197632	.	.	7.10166645221038E-5	0.022
18	61558135	G	C	18	63890901	n	y	intronic	SERPINB2	.	.	splicing	ENSG00000197632	.	.	7.10166645221038E-5	0.006
18	61558135	G	T	18	63890901	n	y	intronic	SERPINB2	.	.	splicing	ENSG00000197632	.	.	7.10166645221038E-5	0.006
18	61558136	T	A	18	63890902	n	y	intronic	SERPINB2	.	.	splicing	ENSG00000197632	.	.	3.30338091304305E-5	0.002
18	61558136	T	C	18	63890902	n	y	intronic	SERPINB2	.	.	splicing	ENSG00000197632	.	.	3.30338091304305E-5	0.002
18	61558136	T	G	18	63890902	n	y	intronic	SERPINB2	.	.	splicing	ENSG00000197632	.	.	3.30338091304305E-5	0.002
18	61558137	A	C	18	63890903	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.63898375927585E-4	0.114
18	61558137	A	G	18	63890903	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.63898375927585E-4	0.114
18	61558137	A	T	18	63890903	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.63898375927585E-4	0.114
18	61558138	T	A	18	63890904	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.11657407965104E-4	0.008
18	61558138	T	C	18	63890904	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.37205498882069E-5	0.0
18	61558138	T	G	18	63890904	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.37205498882069E-5	0.0
18	61558139	G	A	18	63890905	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.80787742580909E-5	0.0
18	61558139	G	C	18	63890905	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.80787742580909E-5	0.0
18	61558139	G	T	18	63890905	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.80787742580909E-5	0.0
18	61558140	T	A	18	63890906	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.44656497212392E-5	0.0
18	61558140	T	C	18	63890906	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.44656497212392E-5	0.0
18	61558140	T	G	18	63890906	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.44656497212392E-5	0.0
18	61558141	A	C	18	63890907	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.78864525412067E-5	0.0
18	61558141	A	G	18	63890907	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.78864525412067E-5	0.0
18	61558141	A	T	18	63890907	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.78864525412067E-5	0.0
18	61558142	T	A	18	63890908	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.46393969796562E-4	0.002
18	61558142	T	C	18	63890908	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.46393969796562E-4	0.002
18	61558142	T	G	18	63890908	n	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.46393969796562E-4	0.002
18	61558658	C	A	18	63891424	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.50453971535382E-4	0.002
18	61558658	C	G	18	63891424	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.10310480704191E-4	0.024
18	61558658	C	T	18	63891424	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.76898800410806E-5	0.0
18	61558659	T	A	18	63891425	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0071847758660779	0.374
18	61558659	T	C	18	63891425	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00225879067989868	0.154
18	61558659	T	G	18	63891425	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00300298040805855	0.364
18	61558660	T	A	18	63891426	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00232999753357215	0.19
18	61558660	T	C	18	63891426	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.71135934402649E-4	0.012
18	61558660	T	G	18	63891426	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0013253632579477	0.206
18	61558661	T	A	18	63891427	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.99942776249404	0.964
18	61558661	T	C	18	63891427	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.28222021517138E-4	0.002
18	61558661	T	G	18	63891427	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00129504594474328	0.136
18	61558662	G	A	18	63891428	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.00038713134434E-4	0.0
18	61558662	G	C	18	63891428	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.1661908102709E-5	0.0
18	61558662	G	T	18	63891428	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.39039623733521E-5	0.002
18	61558663	C	A	18	63891429	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.5742769168022E-4	0.034
18	61558663	C	G	18	63891429	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.51972389167478E-4	0.034
18	61558663	C	T	18	63891429	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.99058523534078E-5	0.0
18	61558664	T	A	18	63891430	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00402193717664529	0.12
18	61558664	T	C	18	63891430	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.23716766347331E-4	0.03
18	61558664	T	G	18	63891430	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.012822185309205	0.18
18	61558665	T	A	18	63891431	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00537469293943504	0.232
18	61558665	T	C	18	63891431	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.44497072495945E-4	0.042
18	61558665	T	G	18	63891431	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0026876698509473	0.164
18	61558666	C	A	18	63891432	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.21893191605913E-4	0.01
18	61558666	C	G	18	63891432	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.53060194904544E-4	0.008
18	61558666	C	T	18	63891432	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.75859343125881E-4	0.004
18	61558667	T	A	18	63891433	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00375220293444461	0.212
18	61558667	T	C	18	63891433	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	9.46011929711964E-5	0.006
18	61558667	T	G	18	63891433	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.548200192224864	0.526
18	61558668	A	C	18	63891434	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999955107838025	0.934
18	61558668	A	G	18	63891434	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999955521744805	0.922
18	61558668	A	T	18	63891434	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999955107838025	0.936
18	61558669	G	A	18	63891435	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999968849989454	0.95
18	61558669	G	C	18	63891435	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999968849989454	0.944
18	61558669	G	T	18	63891435	y	y	splicing	SERPINB2	.	.	splicing	ENSG00000197632	.	.	0.999968849989454	0.924
18	61558670	A	C	18	63891436	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	1.03635327745559E-4	0.014
18	61558670	A	G	18	63891436	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	2.89011137703092E-5	0.002
18	61558670	A	T	18	63891436	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	1.14041109064826E-4	0.016
18	61558671	T	A	18	63891437	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	6.06230665502642E-4	0.028
18	61558671	T	C	18	63891437	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	0.0010709940941622	0.042
18	61558671	T	G	18	63891437	y	y	UTR5	SERPINB2	.	.	UTR5	ENSG00000197632	.	.	7.6644275689102E-4	0.03
18	61558844	A	C	18	63891610	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon2:c.A166C:p.K56Q;SERPINB2:NM_001143818:exon3:c.A166C:p.K56Q;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon2:c.A166C:p.K56Q;ENSG00000197632:ENST00000299502:exon2:c.A166C:p.K56Q;ENSG00000197632:ENST00000404622:exon3:c.A166C:p.K56Q;ENSG00000197632:ENST00000457692:exon3:c.A166C:p.K56Q;ENSG00000197632:ENST00000413956:exon3:c.A166C:p.K56Q;	6.64002894001778E-5	0.018
18	61558844	A	G	18	63891610	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon2:c.A166G:p.K56E;SERPINB2:NM_001143818:exon3:c.A166G:p.K56E;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon2:c.A166G:p.K56E;ENSG00000197632:ENST00000299502:exon2:c.A166G:p.K56E;ENSG00000197632:ENST00000404622:exon3:c.A166G:p.K56E;ENSG00000197632:ENST00000457692:exon3:c.A166G:p.K56E;ENSG00000197632:ENST00000413956:exon3:c.A166G:p.K56E;	2.44002069227289E-5	0.02
18	61558844	A	T	18	63891610	y	y	exonic	SERPINB2	stopgain SNV	SERPINB2:NM_002575:exon2:c.A166T:p.K56X;SERPINB2:NM_001143818:exon3:c.A166T:p.K56X;	exonic	ENSG00000197632	stopgain SNV	ENSG00000197632:ENST00000443281:exon2:c.A166T:p.K56X;ENSG00000197632:ENST00000299502:exon2:c.A166T:p.K56X;ENSG00000197632:ENST00000404622:exon3:c.A166T:p.K56X;ENSG00000197632:ENST00000457692:exon3:c.A166T:p.K56X;ENSG00000197632:ENST00000413956:exon3:c.A166T:p.K56X;	0.002284375458929	0.336
18	61558845	A	C	18	63891611	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon2:c.A167C:p.K56T;SERPINB2:NM_001143818:exon3:c.A167C:p.K56T;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon2:c.A167C:p.K56T;ENSG00000197632:ENST00000299502:exon2:c.A167C:p.K56T;ENSG00000197632:ENST00000404622:exon3:c.A167C:p.K56T;ENSG00000197632:ENST00000457692:exon3:c.A167C:p.K56T;ENSG00000197632:ENST00000413956:exon3:c.A167C:p.K56T;	0.991016745032776	0.842
18	61558845	A	G	18	63891611	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon2:c.A167G:p.K56R;SERPINB2:NM_001143818:exon3:c.A167G:p.K56R;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon2:c.A167G:p.K56R;ENSG00000197632:ENST00000299502:exon2:c.A167G:p.K56R;ENSG00000197632:ENST00000404622:exon3:c.A167G:p.K56R;ENSG00000197632:ENST00000457692:exon3:c.A167G:p.K56R;ENSG00000197632:ENST00000413956:exon3:c.A167G:p.K56R;	0.996626410434792	0.93
18	61558845	A	T	18	63891611	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon2:c.A167T:p.K56M;SERPINB2:NM_001143818:exon3:c.A167T:p.K56M;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon2:c.A167T:p.K56M;ENSG00000197632:ENST00000299502:exon2:c.A167T:p.K56M;ENSG00000197632:ENST00000404622:exon3:c.A167T:p.K56M;ENSG00000197632:ENST00000457692:exon3:c.A167T:p.K56M;ENSG00000197632:ENST00000413956:exon3:c.A167T:p.K56M;	0.991821610941017	0.772
18	61558846	G	A	18	63891612	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon2:c.G168A:p.K56K;SERPINB2:NM_001143818:exon3:c.G168A:p.K56K;	exonic	ENSG00000197632	synonymous SNV	ENSG00000197632:ENST00000443281:exon2:c.G168A:p.K56K;ENSG00000197632:ENST00000299502:exon2:c.G168A:p.K56K;ENSG00000197632:ENST00000404622:exon3:c.G168A:p.K56K;ENSG00000197632:ENST00000457692:exon3:c.G168A:p.K56K;ENSG00000197632:ENST00000413956:exon3:c.G168A:p.K56K;	0.507348248641455	0.368
18	61558846	G	C	18	63891612	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon2:c.G168C:p.K56N;SERPINB2:NM_001143818:exon3:c.G168C:p.K56N;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon2:c.G168C:p.K56N;ENSG00000197632:ENST00000299502:exon2:c.G168C:p.K56N;ENSG00000197632:ENST00000404622:exon3:c.G168C:p.K56N;ENSG00000197632:ENST00000457692:exon3:c.G168C:p.K56N;ENSG00000197632:ENST00000413956:exon3:c.G168C:p.K56N;	0.886479331205463	0.554
18	61558846	G	T	18	63891612	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon2:c.G168T:p.K56N;SERPINB2:NM_001143818:exon3:c.G168T:p.K56N;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon2:c.G168T:p.K56N;ENSG00000197632:ENST00000299502:exon2:c.G168T:p.K56N;ENSG00000197632:ENST00000404622:exon3:c.G168T:p.K56N;ENSG00000197632:ENST00000457692:exon3:c.G168T:p.K56N;ENSG00000197632:ENST00000413956:exon3:c.G168T:p.K56N;	0.888953244727767	0.526
18	61558847	G	A	18	63891613	y	y	splicing	SERPINB2(NM_002575:exon2:c.168+1G>A;NM_001143818:exon3:c.168+1G>A)	.	.	splicing	ENSG00000197632(ENST00000404622:exon3:c.168+1G>A;ENST00000299502:exon2:c.168+1G>A;ENST00000457692:exon3:c.168+1G>A;ENST00000413956:exon3:c.168+1G>A;ENST00000443281:exon2:c.168+1G>A)	.	.	0.999985532734767	0.936
18	61558847	G	C	18	63891613	y	y	splicing	SERPINB2(NM_002575:exon2:c.168+1G>C;NM_001143818:exon3:c.168+1G>C)	.	.	splicing	ENSG00000197632(ENST00000404622:exon3:c.168+1G>C;ENST00000299502:exon2:c.168+1G>C;ENST00000457692:exon3:c.168+1G>C;ENST00000413956:exon3:c.168+1G>C;ENST00000443281:exon2:c.168+1G>C)	.	.	0.999985532734767	0.936
18	61558847	G	T	18	63891613	y	y	splicing	SERPINB2(NM_002575:exon2:c.168+1G>T;NM_001143818:exon3:c.168+1G>T)	.	.	splicing	ENSG00000197632(ENST00000404622:exon3:c.168+1G>T;ENST00000299502:exon2:c.168+1G>T;ENST00000457692:exon3:c.168+1G>T;ENST00000413956:exon3:c.168+1G>T;ENST00000443281:exon2:c.168+1G>T)	.	.	0.999985532734767	0.936
18	61558848	T	A	18	63891614	y	y	splicing	SERPINB2(NM_002575:exon2:c.168+2T>A;NM_001143818:exon3:c.168+2T>A)	.	.	splicing	ENSG00000197632(ENST00000404622:exon3:c.168+2T>A;ENST00000299502:exon2:c.168+2T>A;ENST00000457692:exon3:c.168+2T>A;ENST00000413956:exon3:c.168+2T>A;ENST00000443281:exon2:c.168+2T>A)	.	.	0.999986607513753	0.918
18	61558848	T	C	18	63891614	y	y	splicing	SERPINB2(NM_002575:exon2:c.168+2T>C;NM_001143818:exon3:c.168+2T>C)	.	.	splicing	ENSG00000197632(ENST00000404622:exon3:c.168+2T>C;ENST00000299502:exon2:c.168+2T>C;ENST00000457692:exon3:c.168+2T>C;ENST00000413956:exon3:c.168+2T>C;ENST00000443281:exon2:c.168+2T>C)	.	.	0.999949326536153	0.874
18	61558848	T	G	18	63891614	y	y	splicing	SERPINB2(NM_002575:exon2:c.168+2T>G;NM_001143818:exon3:c.168+2T>G)	.	.	splicing	ENSG00000197632(ENST00000404622:exon3:c.168+2T>G;ENST00000299502:exon2:c.168+2T>G;ENST00000457692:exon3:c.168+2T>G;ENST00000413956:exon3:c.168+2T>G;ENST00000443281:exon2:c.168+2T>G)	.	.	0.999986607513753	0.918
18	61558849	G	A	18	63891615	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.21348711249254E-5	0.0
18	61558849	G	C	18	63891615	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0183179467445084	0.326
18	61558849	G	T	18	63891615	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00786112960656839	0.284
18	61558850	A	C	18	63891616	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.961107484659879	0.696
18	61558850	A	G	18	63891616	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.990432914972418	0.756
18	61558850	A	T	18	63891616	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.998493976285525	0.874
18	61558851	G	A	18	63891617	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.998722205052851	0.924
18	61558851	G	C	18	63891617	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.999246242725149	0.888
18	61558851	G	T	18	63891617	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.998904320933228	0.866
18	61558852	T	A	18	63891618	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0607442048614672	0.332
18	61558852	T	C	18	63891618	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0155142375180416	0.232
18	61558852	T	G	18	63891618	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0204989702640473	0.22
18	61558853	T	A	18	63891619	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.09747652620505E-4	0.002
18	61558853	T	C	18	63891619	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.76243206681716E-4	0.002
18	61558853	T	G	18	63891619	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.75128707575245E-4	0.01
18	61558854	T	A	18	63891620	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.60454940398493E-4	0.018
18	61558854	T	C	18	63891620	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.96328029514263E-4	0.012
18	61558854	T	G	18	63891620	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.18496190446409E-5	0.008
18	61562486	T	A	18	63895252	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.310810319423617	0.532
18	61562486	T	C	18	63895252	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.45687453659609E-4	0.024
18	61562486	T	G	18	63895252	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.999740290088043	0.952
18	61562487	T	A	18	63895253	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.956820231937969	0.666
18	61562487	T	C	18	63895253	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0153698454062606	0.116
18	61562487	T	G	18	63895253	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.680350270318395	0.616
18	61562488	C	A	18	63895254	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00213651095501214	0.136
18	61562488	C	G	18	63895254	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	9.73034175803591E-4	0.11
18	61562488	C	T	18	63895254	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.93612433148427E-5	0.0
18	61562489	T	A	18	63895255	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.999650441815588	0.888
18	61562489	T	C	18	63895255	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.61534374951085E-5	0.004
18	61562489	T	G	18	63895255	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00257555317665454	0.096
18	61562490	G	A	18	63895256	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.22084024830492E-4	0.044
18	61562490	G	C	18	63895256	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.88557627284206E-5	0.008
18	61562490	G	T	18	63895256	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.13854764215315E-5	0.006
18	61562491	A	C	18	63895257	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.94464169030014E-5	0.014
18	61562491	A	G	18	63895257	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.40662967353909E-5	0.0
18	61562491	A	T	18	63895257	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.94464169030014E-5	0.004
18	61562492	T	A	18	63895258	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0229739473649647	0.294
18	61562492	T	C	18	63895258	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.46125836715932E-4	0.022
18	61562492	T	G	18	63895258	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.999683208482195	0.97
18	61562493	T	A	18	63895259	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.998373514964033	0.944
18	61562493	T	C	18	63895259	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.8705594450412E-5	0.008
18	61562493	T	G	18	63895259	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.328714462646608	0.336
18	61562494	G	A	18	63895260	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.3993408827332E-4	0.004
18	61562494	G	C	18	63895260	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	8.95114057302796E-5	0.004
18	61562494	G	T	18	63895260	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	9.37142614587288E-5	0.004
18	61562495	C	A	18	63895261	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.231625164836498	0.284
18	61562495	C	G	18	63895261	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.992440634247937	0.756
18	61562495	C	T	18	63895261	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.17292463247085E-4	0.1
18	61562496	A	C	18	63895262	y	y	splicing	SERPINB2(NM_002575:exon3:c.169-2A>C;NM_001143818:exon4:c.169-2A>C)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.169-2A>C;ENST00000299502:exon3:c.169-2A>C;ENST00000457692:exon4:c.169-2A>C;ENST00000413956:exon4:c.169-2A>C;ENST00000443281:exon3:c.169-2A>C)	.	.	0.999962958601995	0.86
18	61562496	A	G	18	63895262	y	y	splicing	SERPINB2(NM_002575:exon3:c.169-2A>G;NM_001143818:exon4:c.169-2A>G)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.169-2A>G;ENST00000299502:exon3:c.169-2A>G;ENST00000457692:exon4:c.169-2A>G;ENST00000413956:exon4:c.169-2A>G;ENST00000443281:exon3:c.169-2A>G)	.	.	0.999962958601995	0.86
18	61562496	A	T	18	63895262	y	y	splicing	SERPINB2(NM_002575:exon3:c.169-2A>T;NM_001143818:exon4:c.169-2A>T)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.169-2A>T;ENST00000299502:exon3:c.169-2A>T;ENST00000457692:exon4:c.169-2A>T;ENST00000413956:exon4:c.169-2A>T;ENST00000443281:exon3:c.169-2A>T)	.	.	0.999969255906173	0.862
18	61562497	G	A	18	63895263	y	y	splicing	SERPINB2(NM_002575:exon3:c.169-1G>A;NM_001143818:exon4:c.169-1G>A)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.169-1G>A;ENST00000299502:exon3:c.169-1G>A;ENST00000457692:exon4:c.169-1G>A;ENST00000413956:exon4:c.169-1G>A;ENST00000443281:exon3:c.169-1G>A)	.	.	0.999974785031454	0.882
18	61562497	G	C	18	63895263	y	y	splicing	SERPINB2(NM_002575:exon3:c.169-1G>C;NM_001143818:exon4:c.169-1G>C)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.169-1G>C;ENST00000299502:exon3:c.169-1G>C;ENST00000457692:exon4:c.169-1G>C;ENST00000413956:exon4:c.169-1G>C;ENST00000443281:exon3:c.169-1G>C)	.	.	0.999974785031454	0.87
18	61562497	G	T	18	63895263	y	y	splicing	SERPINB2(NM_002575:exon3:c.169-1G>T;NM_001143818:exon4:c.169-1G>T)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.169-1G>T;ENST00000299502:exon3:c.169-1G>T;ENST00000457692:exon4:c.169-1G>T;ENST00000413956:exon4:c.169-1G>T;ENST00000443281:exon3:c.169-1G>T)	.	.	0.999974785031454	0.866
18	61562498	G	A	18	63895264	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.G169A:p.V57M;SERPINB2:NM_001143818:exon4:c.G169A:p.V57M;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.G169A:p.V57M;ENSG00000197632:ENST00000299502:exon3:c.G169A:p.V57M;ENSG00000197632:ENST00000404622:exon4:c.G169A:p.V57M;ENSG00000197632:ENST00000457692:exon4:c.G169A:p.V57M;ENSG00000197632:ENST00000413956:exon4:c.G169A:p.V57M;	0.999637958635991	0.804
18	61562498	G	C	18	63895264	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.G169C:p.V57L;SERPINB2:NM_001143818:exon4:c.G169C:p.V57L;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.G169C:p.V57L;ENSG00000197632:ENST00000299502:exon3:c.G169C:p.V57L;ENSG00000197632:ENST00000404622:exon4:c.G169C:p.V57L;ENSG00000197632:ENST00000457692:exon4:c.G169C:p.V57L;ENSG00000197632:ENST00000413956:exon4:c.G169C:p.V57L;	0.935811296953403	0.77
18	61562498	G	T	18	63895264	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.G169T:p.V57L;SERPINB2:NM_001143818:exon4:c.G169T:p.V57L;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.G169T:p.V57L;ENSG00000197632:ENST00000299502:exon3:c.G169T:p.V57L;ENSG00000197632:ENST00000404622:exon4:c.G169T:p.V57L;ENSG00000197632:ENST00000457692:exon4:c.G169T:p.V57L;ENSG00000197632:ENST00000413956:exon4:c.G169T:p.V57L;	0.997124470474362	0.898
18	61562499	T	A	18	63895265	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.T170A:p.V57E;SERPINB2:NM_001143818:exon4:c.T170A:p.V57E;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.T170A:p.V57E;ENSG00000197632:ENST00000299502:exon3:c.T170A:p.V57E;ENSG00000197632:ENST00000404622:exon4:c.T170A:p.V57E;ENSG00000197632:ENST00000457692:exon4:c.T170A:p.V57E;ENSG00000197632:ENST00000413956:exon4:c.T170A:p.V57E;	0.800100155226065	0.466
18	61562499	T	C	18	63895265	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.T170C:p.V57A;SERPINB2:NM_001143818:exon4:c.T170C:p.V57A;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.T170C:p.V57A;ENSG00000197632:ENST00000299502:exon3:c.T170C:p.V57A;ENSG00000197632:ENST00000404622:exon4:c.T170C:p.V57A;ENSG00000197632:ENST00000457692:exon4:c.T170C:p.V57A;ENSG00000197632:ENST00000413956:exon4:c.T170C:p.V57A;	0.907663944929253	0.496
18	61562499	T	G	18	63895265	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.T170G:p.V57G;SERPINB2:NM_001143818:exon4:c.T170G:p.V57G;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.T170G:p.V57G;ENSG00000197632:ENST00000299502:exon3:c.T170G:p.V57G;ENSG00000197632:ENST00000404622:exon4:c.T170G:p.V57G;ENSG00000197632:ENST00000457692:exon4:c.T170G:p.V57G;ENSG00000197632:ENST00000413956:exon4:c.T170G:p.V57G;	0.522626397708832	0.392
18	61562615	C	A	18	63895381	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.C286A:p.Q96K;SERPINB2:NM_001143818:exon4:c.C286A:p.Q96K;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.C286A:p.Q96K;ENSG00000197632:ENST00000299502:exon3:c.C286A:p.Q96K;ENSG00000197632:ENST00000404622:exon4:c.C286A:p.Q96K;ENSG00000197632:ENST00000457692:exon4:c.C286A:p.Q96K;ENSG00000197632:ENST00000413956:exon4:c.C286A:p.Q96K;	2.92671187215342E-5	0.004
18	61562615	C	G	18	63895381	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.C286G:p.Q96E;SERPINB2:NM_001143818:exon4:c.C286G:p.Q96E;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.C286G:p.Q96E;ENSG00000197632:ENST00000299502:exon3:c.C286G:p.Q96E;ENSG00000197632:ENST00000404622:exon4:c.C286G:p.Q96E;ENSG00000197632:ENST00000457692:exon4:c.C286G:p.Q96E;ENSG00000197632:ENST00000413956:exon4:c.C286G:p.Q96E;	1.23414395304135E-4	0.048
18	61562615	C	T	18	63895381	y	y	exonic	SERPINB2	stopgain SNV	SERPINB2:NM_002575:exon3:c.C286T:p.Q96X;SERPINB2:NM_001143818:exon4:c.C286T:p.Q96X;	exonic	ENSG00000197632	stopgain SNV	ENSG00000197632:ENST00000443281:exon3:c.C286T:p.Q96X;ENSG00000197632:ENST00000299502:exon3:c.C286T:p.Q96X;ENSG00000197632:ENST00000404622:exon4:c.C286T:p.Q96X;ENSG00000197632:ENST00000457692:exon4:c.C286T:p.Q96X;ENSG00000197632:ENST00000413956:exon4:c.C286T:p.Q96X;	0.851634011688097	0.63
18	61562616	A	C	18	63895382	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.A287C:p.Q96P;SERPINB2:NM_001143818:exon4:c.A287C:p.Q96P;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.A287C:p.Q96P;ENSG00000197632:ENST00000299502:exon3:c.A287C:p.Q96P;ENSG00000197632:ENST00000404622:exon4:c.A287C:p.Q96P;ENSG00000197632:ENST00000457692:exon4:c.A287C:p.Q96P;ENSG00000197632:ENST00000413956:exon4:c.A287C:p.Q96P;	0.992622072203428	0.892
18	61562616	A	G	18	63895382	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.A287G:p.Q96R;SERPINB2:NM_001143818:exon4:c.A287G:p.Q96R;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.A287G:p.Q96R;ENSG00000197632:ENST00000299502:exon3:c.A287G:p.Q96R;ENSG00000197632:ENST00000404622:exon4:c.A287G:p.Q96R;ENSG00000197632:ENST00000457692:exon4:c.A287G:p.Q96R;ENSG00000197632:ENST00000413956:exon4:c.A287G:p.Q96R;	0.97771263944788	0.846
18	61562616	A	T	18	63895382	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.A287T:p.Q96L;SERPINB2:NM_001143818:exon4:c.A287T:p.Q96L;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.A287T:p.Q96L;ENSG00000197632:ENST00000299502:exon3:c.A287T:p.Q96L;ENSG00000197632:ENST00000404622:exon4:c.A287T:p.Q96L;ENSG00000197632:ENST00000457692:exon4:c.A287T:p.Q96L;ENSG00000197632:ENST00000413956:exon4:c.A287T:p.Q96L;	0.99496363373542	0.866
18	61562617	G	A	18	63895383	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon3:c.G288A:p.Q96Q;SERPINB2:NM_001143818:exon4:c.G288A:p.Q96Q;	exonic	ENSG00000197632	synonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.G288A:p.Q96Q;ENSG00000197632:ENST00000299502:exon3:c.G288A:p.Q96Q;ENSG00000197632:ENST00000404622:exon4:c.G288A:p.Q96Q;ENSG00000197632:ENST00000457692:exon4:c.G288A:p.Q96Q;ENSG00000197632:ENST00000413956:exon4:c.G288A:p.Q96Q;	0.999991232068961	0.992
18	61562617	G	C	18	63895383	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.G288C:p.Q96H;SERPINB2:NM_001143818:exon4:c.G288C:p.Q96H;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.G288C:p.Q96H;ENSG00000197632:ENST00000299502:exon3:c.G288C:p.Q96H;ENSG00000197632:ENST00000404622:exon4:c.G288C:p.Q96H;ENSG00000197632:ENST00000457692:exon4:c.G288C:p.Q96H;ENSG00000197632:ENST00000413956:exon4:c.G288C:p.Q96H;	0.999991436170943	0.942
18	61562617	G	T	18	63895383	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon3:c.G288T:p.Q96H;SERPINB2:NM_001143818:exon4:c.G288T:p.Q96H;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon3:c.G288T:p.Q96H;ENSG00000197632:ENST00000299502:exon3:c.G288T:p.Q96H;ENSG00000197632:ENST00000404622:exon4:c.G288T:p.Q96H;ENSG00000197632:ENST00000457692:exon4:c.G288T:p.Q96H;ENSG00000197632:ENST00000413956:exon4:c.G288T:p.Q96H;	0.999980768183379	0.96
18	61562618	G	A	18	63895384	y	y	splicing	SERPINB2(NM_002575:exon3:c.288+1G>A;NM_001143818:exon4:c.288+1G>A)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.288+1G>A;ENST00000299502:exon3:c.288+1G>A;ENST00000457692:exon4:c.288+1G>A;ENST00000413956:exon4:c.288+1G>A;ENST00000443281:exon3:c.288+1G>A)	.	.	0.999965316651096	0.952
18	61562618	G	C	18	63895384	y	y	splicing	SERPINB2(NM_002575:exon3:c.288+1G>C;NM_001143818:exon4:c.288+1G>C)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.288+1G>C;ENST00000299502:exon3:c.288+1G>C;ENST00000457692:exon4:c.288+1G>C;ENST00000413956:exon4:c.288+1G>C;ENST00000443281:exon3:c.288+1G>C)	.	.	0.999965316651096	0.932
18	61562618	G	T	18	63895384	y	y	splicing	SERPINB2(NM_002575:exon3:c.288+1G>T;NM_001143818:exon4:c.288+1G>T)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.288+1G>T;ENST00000299502:exon3:c.288+1G>T;ENST00000457692:exon4:c.288+1G>T;ENST00000413956:exon4:c.288+1G>T;ENST00000443281:exon3:c.288+1G>T)	.	.	0.999965316651096	0.952
18	61562619	T	A	18	63895385	y	y	splicing	SERPINB2(NM_002575:exon3:c.288+2T>A;NM_001143818:exon4:c.288+2T>A)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.288+2T>A;ENST00000299502:exon3:c.288+2T>A;ENST00000457692:exon4:c.288+2T>A;ENST00000413956:exon4:c.288+2T>A;ENST00000443281:exon3:c.288+2T>A)	.	.	0.999957711392063	0.956
18	61562619	T	C	18	63895385	y	y	splicing	SERPINB2(NM_002575:exon3:c.288+2T>C;NM_001143818:exon4:c.288+2T>C)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.288+2T>C;ENST00000299502:exon3:c.288+2T>C;ENST00000457692:exon4:c.288+2T>C;ENST00000413956:exon4:c.288+2T>C;ENST00000443281:exon3:c.288+2T>C)	.	.	0.97572155256327	0.616
18	61562619	T	G	18	63895385	y	y	splicing	SERPINB2(NM_002575:exon3:c.288+2T>G;NM_001143818:exon4:c.288+2T>G)	.	.	splicing	ENSG00000197632(ENST00000404622:exon4:c.288+2T>G;ENST00000299502:exon3:c.288+2T>G;ENST00000457692:exon4:c.288+2T>G;ENST00000413956:exon4:c.288+2T>G;ENST00000443281:exon3:c.288+2T>G)	.	.	0.999957711392063	0.956
18	61562620	A	C	18	63895386	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.999680226999264	0.908
18	61562620	A	G	18	63895386	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.992630348356853	0.79
18	61562620	A	T	18	63895386	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.999717927019016	0.944
18	61562621	T	A	18	63895387	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.19365952929361E-4	0.056
18	61562621	T	C	18	63895387	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.66084398984986E-4	0.06
18	61562621	T	G	18	63895387	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.33999476865549E-4	0.042
18	61562622	C	A	18	63895388	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.7844855150822E-5	0.004
18	61562622	C	G	18	63895388	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.20415026694328E-4	0.006
18	61562622	C	T	18	63895388	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.05906288992809E-4	0.002
18	61562623	T	A	18	63895389	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0352913798591248	0.174
18	61562623	T	C	18	63895389	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0970335863429181	0.37
18	61562623	T	G	18	63895389	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.024134146278563	0.312
18	61562624	G	A	18	63895390	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.62284328782344E-4	0.0
18	61562624	G	C	18	63895390	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.03649691230329E-4	0.014
18	61562624	G	T	18	63895390	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.65540381599462E-4	0.05
18	61562625	A	C	18	63895391	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00170683215900994	0.09
18	61562625	A	G	18	63895391	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00142643361243841	0.092
18	61562625	A	T	18	63895391	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	6.38719582329114E-4	0.016
18	61564313	T	A	18	63897079	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00475494316326828	0.058
18	61564313	T	C	18	63897079	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.89482223868625E-4	0.0
18	61564313	T	G	18	63897079	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00350186070753379	0.12
18	61564314	T	A	18	63897080	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00138592308552475	0.162
18	61564314	T	C	18	63897080	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.22036189263965E-4	0.032
18	61564314	T	G	18	63897080	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.32254068921566E-4	0.216
18	61564315	T	A	18	63897081	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00131235436180251	0.174
18	61564315	T	C	18	63897081	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.6387943474335E-4	0.018
18	61564315	T	G	18	63897081	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00204806723005426	0.204
18	61564316	C	A	18	63897082	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.25361593888207E-4	0.008
18	61564316	C	G	18	63897082	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.39646703457546E-4	0.016
18	61564316	C	T	18	63897082	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.97806959777924E-5	0.002
18	61564317	T	A	18	63897083	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.55675273461282E-4	0.014
18	61564317	T	C	18	63897083	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.46137549693079E-5	0.0
18	61564317	T	G	18	63897083	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.59684021200373E-4	0.044
18	61564318	T	A	18	63897084	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	5.11568774114542E-5	0.02
18	61564318	T	C	18	63897084	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	2.79391084319988E-5	0.02
18	61564318	T	G	18	63897084	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	9.1869789729353E-5	0.018
18	61564319	T	A	18	63897085	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0054548211686514	0.144
18	61564319	T	C	18	63897085	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	7.19713156954266E-5	0.002
18	61564319	T	G	18	63897085	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00402558316721429	0.166
18	61564320	T	A	18	63897086	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0499446766577791	0.248
18	61564320	T	C	18	63897086	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.00661327408821403	0.096
18	61564320	T	G	18	63897086	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.300748469274937	0.294
18	61564321	C	A	18	63897087	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.38392616893063E-5	0.0
18	61564321	C	G	18	63897087	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.16237944432869E-5	0.0
18	61564321	C	T	18	63897087	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	1.49328832119488E-5	0.002
18	61564322	A	C	18	63897088	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	4.89746629156959E-5	0.056
18	61564322	A	G	18	63897088	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	0.0810236794591839	0.216
18	61564322	A	T	18	63897088	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632	.	.	3.46388066669201E-5	0.004
18	61564323	A	C	18	63897089	y	y	splicing	SERPINB2(NM_002575:exon4:c.289-2A>C;NM_001143818:exon5:c.289-2A>C)	.	.	splicing	ENSG00000197632(ENST00000404622:exon5:c.289-2A>C;ENST00000299502:exon4:c.289-2A>C;ENST00000457692:exon5:c.289-2A>C;ENST00000413956:exon5:c.289-2A>C;ENST00000443281:exon4:c.289-2A>C)	.	.	0.999971317418422	0.898
18	61564323	A	G	18	63897089	y	y	splicing	SERPINB2(NM_002575:exon4:c.289-2A>G;NM_001143818:exon5:c.289-2A>G)	.	.	splicing	ENSG00000197632(ENST00000404622:exon5:c.289-2A>G;ENST00000299502:exon4:c.289-2A>G;ENST00000457692:exon5:c.289-2A>G;ENST00000413956:exon5:c.289-2A>G;ENST00000443281:exon4:c.289-2A>G)	.	.	0.999971317418422	0.898
18	61564323	A	T	18	63897089	y	y	splicing	SERPINB2(NM_002575:exon4:c.289-2A>T;NM_001143818:exon5:c.289-2A>T)	.	.	splicing	ENSG00000197632(ENST00000404622:exon5:c.289-2A>T;ENST00000299502:exon4:c.289-2A>T;ENST00000457692:exon5:c.289-2A>T;ENST00000413956:exon5:c.289-2A>T;ENST00000443281:exon4:c.289-2A>T)	.	.	0.999971317418422	0.9
18	61564324	G	A	18	63897090	y	y	splicing	SERPINB2(NM_002575:exon4:c.289-1G>A;NM_001143818:exon5:c.289-1G>A)	.	.	splicing	ENSG00000197632(ENST00000404622:exon5:c.289-1G>A;ENST00000299502:exon4:c.289-1G>A;ENST00000457692:exon5:c.289-1G>A;ENST00000413956:exon5:c.289-1G>A;ENST00000443281:exon4:c.289-1G>A)	.	.	0.999972300204905	0.904
18	61564324	G	C	18	63897090	y	y	splicing	SERPINB2(NM_002575:exon4:c.289-1G>C;NM_001143818:exon5:c.289-1G>C)	.	.	splicing	ENSG00000197632(ENST00000404622:exon5:c.289-1G>C;ENST00000299502:exon4:c.289-1G>C;ENST00000457692:exon5:c.289-1G>C;ENST00000413956:exon5:c.289-1G>C;ENST00000443281:exon4:c.289-1G>C)	.	.	0.999956785519844	0.864
18	61564324	G	T	18	63897090	y	y	splicing	SERPINB2(NM_002575:exon4:c.289-1G>T;NM_001143818:exon5:c.289-1G>T)	.	.	splicing	ENSG00000197632(ENST00000404622:exon5:c.289-1G>T;ENST00000299502:exon4:c.289-1G>T;ENST00000457692:exon5:c.289-1G>T;ENST00000413956:exon5:c.289-1G>T;ENST00000443281:exon4:c.289-1G>T)	.	.	0.999957897063701	0.892
18	61564325	G	A	18	63897091	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.G289A:p.A97T;SERPINB2:NM_001143818:exon5:c.G289A:p.A97T;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon4:c.G289A:p.A97T;ENSG00000197632:ENST00000299502:exon4:c.G289A:p.A97T;ENSG00000197632:ENST00000404622:exon5:c.G289A:p.A97T;ENSG00000197632:ENST00000457692:exon5:c.G289A:p.A97T;ENSG00000197632:ENST00000413956:exon5:c.G289A:p.A97T;	0.26285534984229	0.354
18	61564325	G	C	18	63897091	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.G289C:p.A97P;SERPINB2:NM_001143818:exon5:c.G289C:p.A97P;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon4:c.G289C:p.A97P;ENSG00000197632:ENST00000299502:exon4:c.G289C:p.A97P;ENSG00000197632:ENST00000404622:exon5:c.G289C:p.A97P;ENSG00000197632:ENST00000457692:exon5:c.G289C:p.A97P;ENSG00000197632:ENST00000413956:exon5:c.G289C:p.A97P;	0.996523247671033	0.924
18	61564325	G	T	18	63897091	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.G289T:p.A97S;SERPINB2:NM_001143818:exon5:c.G289T:p.A97S;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon4:c.G289T:p.A97S;ENSG00000197632:ENST00000299502:exon4:c.G289T:p.A97S;ENSG00000197632:ENST00000404622:exon5:c.G289T:p.A97S;ENSG00000197632:ENST00000457692:exon5:c.G289T:p.A97S;ENSG00000197632:ENST00000413956:exon5:c.G289T:p.A97S;	0.893868423622179	0.678
18	61564326	C	A	18	63897092	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.C290A:p.A97E;SERPINB2:NM_001143818:exon5:c.C290A:p.A97E;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon4:c.C290A:p.A97E;ENSG00000197632:ENST00000299502:exon4:c.C290A:p.A97E;ENSG00000197632:ENST00000404622:exon5:c.C290A:p.A97E;ENSG00000197632:ENST00000457692:exon5:c.C290A:p.A97E;ENSG00000197632:ENST00000413956:exon5:c.C290A:p.A97E;	0.00146188740530375	0.032
18	61564326	C	G	18	63897092	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.C290G:p.A97G;SERPINB2:NM_001143818:exon5:c.C290G:p.A97G;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon4:c.C290G:p.A97G;ENSG00000197632:ENST00000299502:exon4:c.C290G:p.A97G;ENSG00000197632:ENST00000404622:exon5:c.C290G:p.A97G;ENSG00000197632:ENST00000457692:exon5:c.C290G:p.A97G;ENSG00000197632:ENST00000413956:exon5:c.C290G:p.A97G;	1.59368830173561E-4	0.016
18	61564326	C	T	18	63897092	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.C290T:p.A97V;SERPINB2:NM_001143818:exon5:c.C290T:p.A97V;	exonic	ENSG00000197632	nonsynonymous SNV	ENSG00000197632:ENST00000443281:exon4:c.C290T:p.A97V;ENSG00000197632:ENST00000299502:exon4:c.C290T:p.A97V;ENSG00000197632:ENST00000404622:exon5:c.C290T:p.A97V;ENSG00000197632:ENST00000457692:exon5:c.C290T:p.A97V;ENSG00000197632:ENST00000413956:exon5:c.C290T:p.A97V;	3.62189190127888E-4	0.014
18	61564451	G	A	18	63897217	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.G415A:p.E139K;SERPINB2:NM_001143818:exon5:c.G415A:p.E139K;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon4:c.G415A:p.E139K;ENSG00000197632:ENST00000457692:exon5:c.G415A:p.E139K;ENSG00000197632:ENST00000413956:exon5:c.G415A:p.E139K;	0.321935201286113	0.506
18	61564451	G	C	18	63897217	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.G415C:p.E139Q;SERPINB2:NM_001143818:exon5:c.G415C:p.E139Q;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon4:c.G415C:p.E139Q;ENSG00000197632:ENST00000457692:exon5:c.G415C:p.E139Q;ENSG00000197632:ENST00000413956:exon5:c.G415C:p.E139Q;	0.218698926951317	0.408
18	61564451	G	T	18	63897217	y	y	exonic	SERPINB2	stopgain SNV	SERPINB2:NM_002575:exon4:c.G415T:p.E139X;SERPINB2:NM_001143818:exon5:c.G415T:p.E139X;	exonic	ENSG00000197632;ENSG00000242550	stopgain SNV	ENSG00000197632:ENST00000299502:exon4:c.G415T:p.E139X;ENSG00000197632:ENST00000457692:exon5:c.G415T:p.E139X;ENSG00000197632:ENST00000413956:exon5:c.G415T:p.E139X;	0.548479082335492	0.602
18	61564452	A	C	18	63897218	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.A416C:p.E139A;SERPINB2:NM_001143818:exon5:c.A416C:p.E139A;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon4:c.A416C:p.E139A;ENSG00000197632:ENST00000457692:exon5:c.A416C:p.E139A;ENSG00000197632:ENST00000413956:exon5:c.A416C:p.E139A;	0.99945862223498	0.97
18	61564452	A	G	18	63897218	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.A416G:p.E139G;SERPINB2:NM_001143818:exon5:c.A416G:p.E139G;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon4:c.A416G:p.E139G;ENSG00000197632:ENST00000457692:exon5:c.A416G:p.E139G;ENSG00000197632:ENST00000413956:exon5:c.A416G:p.E139G;	0.999747476100173	0.952
18	61564452	A	T	18	63897218	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.A416T:p.E139V;SERPINB2:NM_001143818:exon5:c.A416T:p.E139V;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon4:c.A416T:p.E139V;ENSG00000197632:ENST00000457692:exon5:c.A416T:p.E139V;ENSG00000197632:ENST00000413956:exon5:c.A416T:p.E139V;	0.99970155885916	0.98
18	61564453	A	C	18	63897219	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.A417C:p.E139D;SERPINB2:NM_001143818:exon5:c.A417C:p.E139D;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon4:c.A417C:p.E139D;ENSG00000197632:ENST00000457692:exon5:c.A417C:p.E139D;ENSG00000197632:ENST00000413956:exon5:c.A417C:p.E139D;	6.2358915065455E-5	0.082
18	61564453	A	G	18	63897219	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon4:c.A417G:p.E139E;SERPINB2:NM_001143818:exon5:c.A417G:p.E139E;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon4:c.A417G:p.E139E;ENSG00000197632:ENST00000457692:exon5:c.A417G:p.E139E;ENSG00000197632:ENST00000413956:exon5:c.A417G:p.E139E;	6.53995723497897E-5	0.114
18	61564453	A	T	18	63897219	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon4:c.A417T:p.E139D;SERPINB2:NM_001143818:exon5:c.A417T:p.E139D;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon4:c.A417T:p.E139D;ENSG00000197632:ENST00000457692:exon5:c.A417T:p.E139D;ENSG00000197632:ENST00000413956:exon5:c.A417T:p.E139D;	3.93473523662076E-5	0.044
18	61564454	G	A	18	63897220	y	y	splicing	SERPINB2(NM_002575:exon4:c.417+1G>A;NM_001143818:exon5:c.417+1G>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon4:c.417+1G>A;ENST00000457692:exon5:c.417+1G>A;ENST00000413956:exon5:c.417+1G>A);ENSG00000242550(ENST00000418725:exon1:c.46+1G>A;ENST00000397996:exon1:c.46+1G>A)	.	.	0.999990361384395	0.938
18	61564454	G	C	18	63897220	y	y	splicing	SERPINB2(NM_002575:exon4:c.417+1G>C;NM_001143818:exon5:c.417+1G>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon4:c.417+1G>C;ENST00000457692:exon5:c.417+1G>C;ENST00000413956:exon5:c.417+1G>C);ENSG00000242550(ENST00000418725:exon1:c.46+1G>C;ENST00000397996:exon1:c.46+1G>C)	.	.	0.999990361384395	0.938
18	61564454	G	T	18	63897220	y	y	splicing	SERPINB2(NM_002575:exon4:c.417+1G>T;NM_001143818:exon5:c.417+1G>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon4:c.417+1G>T;ENST00000457692:exon5:c.417+1G>T;ENST00000413956:exon5:c.417+1G>T);ENSG00000242550(ENST00000418725:exon1:c.46+1G>T;ENST00000397996:exon1:c.46+1G>T)	.	.	0.999990361384395	0.938
18	61564455	T	A	18	63897221	y	y	splicing	SERPINB2(NM_002575:exon4:c.417+2T>A;NM_001143818:exon5:c.417+2T>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon4:c.417+2T>A;ENST00000457692:exon5:c.417+2T>A;ENST00000413956:exon5:c.417+2T>A);ENSG00000242550(ENST00000418725:exon1:c.46+2T>A;ENST00000397996:exon1:c.46+2T>A)	.	.	0.999988247793601	0.932
18	61564455	T	C	18	63897221	y	y	splicing	SERPINB2(NM_002575:exon4:c.417+2T>C;NM_001143818:exon5:c.417+2T>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon4:c.417+2T>C;ENST00000457692:exon5:c.417+2T>C;ENST00000413956:exon5:c.417+2T>C);ENSG00000242550(ENST00000418725:exon1:c.46+2T>C;ENST00000397996:exon1:c.46+2T>C)	.	.	0.994877988051647	0.678
18	61564455	T	G	18	63897221	y	y	splicing	SERPINB2(NM_002575:exon4:c.417+2T>G;NM_001143818:exon5:c.417+2T>G)	.	.	splicing	ENSG00000197632(ENST00000299502:exon4:c.417+2T>G;ENST00000457692:exon5:c.417+2T>G;ENST00000413956:exon5:c.417+2T>G);ENSG00000242550(ENST00000418725:exon1:c.46+2T>G;ENST00000397996:exon1:c.46+2T>G)	.	.	0.999988247793601	0.932
18	61564456	A	C	18	63897222	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999785935882884	0.908
18	61564456	A	G	18	63897222	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.404769990331443	0.408
18	61564456	A	T	18	63897222	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999314476227219	0.912
18	61564457	A	C	18	63897223	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999662916813445	0.946
18	61564457	A	G	18	63897223	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999658007813363	0.976
18	61564457	A	T	18	63897223	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999602616502755	0.954
18	61564458	G	A	18	63897224	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999952263936076	0.898
18	61564458	G	C	18	63897224	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999923297279342	0.976
18	61564458	G	T	18	63897224	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.99999064260836	0.886
18	61564459	T	A	18	63897225	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.909343152048148	0.642
18	61564459	T	C	18	63897225	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.846335431284759	0.668
18	61564459	T	G	18	63897225	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.91510849272599	0.654
18	61564460	G	A	18	63897226	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.63600326456606E-4	0.032
18	61564460	G	C	18	63897226	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.16907705089361E-4	0.004
18	61564460	G	T	18	63897226	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.63600326456606E-4	0.004
18	61564461	A	C	18	63897227	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	7.78716808817316E-5	0.096
18	61564461	A	G	18	63897227	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.32255327502659E-5	0.048
18	61564461	A	T	18	63897227	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.91971147968558E-4	0.104
18	61564949	C	A	18	63897715	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.66963575636642E-4	0.024
18	61564949	C	G	18	63897715	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.84117684743529E-4	0.042
18	61564949	C	T	18	63897715	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.42047178334462E-5	0.0
18	61564950	T	A	18	63897716	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.43017522846066	0.614
18	61564950	T	C	18	63897716	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.43788598442111	0.392
18	61564950	T	G	18	63897716	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.491584869305992	0.586
18	61564951	T	A	18	63897717	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999880631391752	0.984
18	61564951	T	C	18	63897717	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00127917820699047	0.02
18	61564951	T	G	18	63897717	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00403825284148114	0.126
18	61564952	G	A	18	63897718	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.912601018101E-5	0.002
18	61564952	G	C	18	63897718	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.81685065106957E-5	0.002
18	61564952	G	T	18	63897718	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	7.46195683598839E-5	0.002
18	61564953	C	A	18	63897719	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00169158578242289	0.088
18	61564953	C	G	18	63897719	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00408453925165852	0.102
18	61564953	C	T	18	63897719	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.81795021263525E-5	0.002
18	61564954	T	A	18	63897720	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00261131990966105	0.054
18	61564954	T	C	18	63897720	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.71548853118691E-4	0.018
18	61564954	T	G	18	63897720	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00256793005695773	0.058
18	61564955	T	A	18	63897721	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00962524341587156	0.206
18	61564955	T	C	18	63897721	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.409750530521E-4	0.002
18	61564955	T	G	18	63897721	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.07097868990615	0.268
18	61564956	T	A	18	63897722	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00301546335613461	0.288
18	61564956	T	C	18	63897722	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00746929406108071	0.112
18	61564956	T	G	18	63897722	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00818334276257981	0.326
18	61564957	A	C	18	63897723	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	6.09050212241947E-5	0.002
18	61564957	A	G	18	63897723	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.18386905627176E-4	0.002
18	61564957	A	T	18	63897723	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.71139473991662E-4	0.002
18	61564958	A	C	18	63897724	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.60803449277874E-4	0.048
18	61564958	A	G	18	63897724	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.792793926027164	0.458
18	61564958	A	T	18	63897724	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.74640379793217E-4	0.006
18	61564959	A	C	18	63897725	y	y	splicing	SERPINB2(NM_002575:exon5:c.418-2A>C;NM_001143818:exon6:c.418-2A>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.418-2A>C;ENST00000457692:exon6:c.418-2A>C;ENST00000413956:exon6:c.418-2A>C);ENSG00000242550(ENST00000418725:exon2:c.47-2A>C;ENST00000397996:exon2:c.47-2A>C)	.	.	0.999978952611685	0.926
18	61564959	A	G	18	63897725	y	y	splicing	SERPINB2(NM_002575:exon5:c.418-2A>G;NM_001143818:exon6:c.418-2A>G)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.418-2A>G;ENST00000457692:exon6:c.418-2A>G;ENST00000413956:exon6:c.418-2A>G);ENSG00000242550(ENST00000418725:exon2:c.47-2A>G;ENST00000397996:exon2:c.47-2A>G)	.	.	0.999978952611685	0.926
18	61564959	A	T	18	63897725	y	y	splicing	SERPINB2(NM_002575:exon5:c.418-2A>T;NM_001143818:exon6:c.418-2A>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.418-2A>T;ENST00000457692:exon6:c.418-2A>T;ENST00000413956:exon6:c.418-2A>T);ENSG00000242550(ENST00000418725:exon2:c.47-2A>T;ENST00000397996:exon2:c.47-2A>T)	.	.	0.999978952611685	0.924
18	61564960	G	A	18	63897726	y	y	splicing	SERPINB2(NM_002575:exon5:c.418-1G>A;NM_001143818:exon6:c.418-1G>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.418-1G>A;ENST00000457692:exon6:c.418-1G>A;ENST00000413956:exon6:c.418-1G>A);ENSG00000242550(ENST00000418725:exon2:c.47-1G>A;ENST00000397996:exon2:c.47-1G>A)	.	.	0.99995545544995	0.93
18	61564960	G	C	18	63897726	y	y	splicing	SERPINB2(NM_002575:exon5:c.418-1G>C;NM_001143818:exon6:c.418-1G>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.418-1G>C;ENST00000457692:exon6:c.418-1G>C;ENST00000413956:exon6:c.418-1G>C);ENSG00000242550(ENST00000418725:exon2:c.47-1G>C;ENST00000397996:exon2:c.47-1G>C)	.	.	0.99995545544995	0.934
18	61564960	G	T	18	63897726	y	y	splicing	SERPINB2(NM_002575:exon5:c.418-1G>T;NM_001143818:exon6:c.418-1G>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.418-1G>T;ENST00000457692:exon6:c.418-1G>T;ENST00000413956:exon6:c.418-1G>T);ENSG00000242550(ENST00000418725:exon2:c.47-1G>T;ENST00000397996:exon2:c.47-1G>T)	.	.	0.99995545544995	0.93
18	61564961	G	A	18	63897727	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.G418A:p.E140K;SERPINB2:NM_001143818:exon6:c.G418A:p.E140K;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.G418A:p.E140K;ENSG00000197632:ENST00000457692:exon6:c.G418A:p.E140K;ENSG00000197632:ENST00000413956:exon6:c.G418A:p.E140K;	0.162679547716584	0.462
18	61564961	G	C	18	63897727	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.G418C:p.E140Q;SERPINB2:NM_001143818:exon6:c.G418C:p.E140Q;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.G418C:p.E140Q;ENSG00000197632:ENST00000457692:exon6:c.G418C:p.E140Q;ENSG00000197632:ENST00000413956:exon6:c.G418C:p.E140Q;	0.963040928083812	0.808
18	61564961	G	T	18	63897727	y	y	exonic	SERPINB2	stopgain SNV	SERPINB2:NM_002575:exon5:c.G418T:p.E140X;SERPINB2:NM_001143818:exon6:c.G418T:p.E140X;	exonic	ENSG00000197632;ENSG00000242550	stopgain SNV	ENSG00000197632:ENST00000299502:exon5:c.G418T:p.E140X;ENSG00000197632:ENST00000457692:exon6:c.G418T:p.E140X;ENSG00000197632:ENST00000413956:exon6:c.G418T:p.E140X;	0.999263504843486	0.926
18	61564962	A	C	18	63897728	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.A419C:p.E140A;SERPINB2:NM_001143818:exon6:c.A419C:p.E140A;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A419C:p.E140A;ENSG00000197632:ENST00000457692:exon6:c.A419C:p.E140A;ENSG00000197632:ENST00000413956:exon6:c.A419C:p.E140A;	0.148272703314169	0.216
18	61564962	A	G	18	63897728	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.A419G:p.E140G;SERPINB2:NM_001143818:exon6:c.A419G:p.E140G;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A419G:p.E140G;ENSG00000197632:ENST00000457692:exon6:c.A419G:p.E140G;ENSG00000197632:ENST00000413956:exon6:c.A419G:p.E140G;	0.114966028126455	0.278
18	61564962	A	T	18	63897728	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.A419T:p.E140V;SERPINB2:NM_001143818:exon6:c.A419T:p.E140V;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A419T:p.E140V;ENSG00000197632:ENST00000457692:exon6:c.A419T:p.E140V;ENSG00000197632:ENST00000413956:exon6:c.A419T:p.E140V;	0.0510966240611103	0.21
18	61565076	A	C	18	63897842	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.A533C:p.K178T;SERPINB2:NM_001143818:exon6:c.A533C:p.K178T;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A533C:p.K178T;ENSG00000197632:ENST00000457692:exon6:c.A533C:p.K178T;	0.876825884004839	0.67
18	61565076	A	G	18	63897842	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.A533G:p.K178R;SERPINB2:NM_001143818:exon6:c.A533G:p.K178R;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A533G:p.K178R;ENSG00000197632:ENST00000457692:exon6:c.A533G:p.K178R;	0.584304467289099	0.444
18	61565076	A	T	18	63897842	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.A533T:p.K178I;SERPINB2:NM_001143818:exon6:c.A533T:p.K178I;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A533T:p.K178I;ENSG00000197632:ENST00000457692:exon6:c.A533T:p.K178I;	0.965682817828453	0.686
18	61565077	A	C	18	63897843	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.A534C:p.K178N;SERPINB2:NM_001143818:exon6:c.A534C:p.K178N;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A534C:p.K178N;ENSG00000197632:ENST00000457692:exon6:c.A534C:p.K178N;	0.545587477397249	0.658
18	61565077	A	G	18	63897843	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon5:c.A534G:p.K178K;SERPINB2:NM_001143818:exon6:c.A534G:p.K178K;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A534G:p.K178K;ENSG00000197632:ENST00000457692:exon6:c.A534G:p.K178K;	0.782503094581824	0.692
18	61565077	A	T	18	63897843	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.A534T:p.K178N;SERPINB2:NM_001143818:exon6:c.A534T:p.K178N;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.A534T:p.K178N;ENSG00000197632:ENST00000457692:exon6:c.A534T:p.K178N;	0.866022797103188	0.69
18	61565078	G	A	18	63897844	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.G535A:p.G179S;SERPINB2:NM_001143818:exon6:c.G535A:p.G179S;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.G535A:p.G179S;ENSG00000197632:ENST00000457692:exon6:c.G535A:p.G179S;	0.999983566772284	0.984
18	61565078	G	C	18	63897844	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.G535C:p.G179R;SERPINB2:NM_001143818:exon6:c.G535C:p.G179R;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.G535C:p.G179R;ENSG00000197632:ENST00000457692:exon6:c.G535C:p.G179R;	0.999997508867883	0.99
18	61565078	G	T	18	63897844	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon5:c.G535T:p.G179C;SERPINB2:NM_001143818:exon6:c.G535T:p.G179C;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon5:c.G535T:p.G179C;ENSG00000197632:ENST00000457692:exon6:c.G535T:p.G179C;	0.999969541038731	0.936
18	61565079	G	A	18	63897845	y	y	splicing	SERPINB2(NM_002575:exon5:c.535+1G>A;NM_001143818:exon6:c.535+1G>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.535+1G>A;ENST00000457692:exon6:c.535+1G>A);ENSG00000242550(ENST00000418725:exon2:c.164+1G>A;ENST00000397996:exon2:c.164+1G>A)	.	.	0.999990361384395	0.938
18	61565079	G	C	18	63897845	y	y	splicing	SERPINB2(NM_002575:exon5:c.535+1G>C;NM_001143818:exon6:c.535+1G>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.535+1G>C;ENST00000457692:exon6:c.535+1G>C);ENSG00000242550(ENST00000418725:exon2:c.164+1G>C;ENST00000397996:exon2:c.164+1G>C)	.	.	0.999990361384395	0.938
18	61565079	G	T	18	63897845	y	y	splicing	SERPINB2(NM_002575:exon5:c.535+1G>T;NM_001143818:exon6:c.535+1G>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.535+1G>T;ENST00000457692:exon6:c.535+1G>T);ENSG00000242550(ENST00000418725:exon2:c.164+1G>T;ENST00000397996:exon2:c.164+1G>T)	.	.	0.999990361384395	0.938
18	61565080	T	A	18	63897846	y	y	splicing	SERPINB2(NM_002575:exon5:c.535+2T>A;NM_001143818:exon6:c.535+2T>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.535+2T>A;ENST00000457692:exon6:c.535+2T>A);ENSG00000242550(ENST00000418725:exon2:c.164+2T>A;ENST00000397996:exon2:c.164+2T>A)	.	.	0.999988247793601	0.932
18	61565080	T	C	18	63897846	y	y	splicing	SERPINB2(NM_002575:exon5:c.535+2T>C;NM_001143818:exon6:c.535+2T>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.535+2T>C;ENST00000457692:exon6:c.535+2T>C);ENSG00000242550(ENST00000418725:exon2:c.164+2T>C;ENST00000397996:exon2:c.164+2T>C)	.	.	0.995320650369382	0.694
18	61565080	T	G	18	63897846	y	y	splicing	SERPINB2(NM_002575:exon5:c.535+2T>G;NM_001143818:exon6:c.535+2T>G)	.	.	splicing	ENSG00000197632(ENST00000299502:exon5:c.535+2T>G;ENST00000457692:exon6:c.535+2T>G);ENSG00000242550(ENST00000418725:exon2:c.164+2T>G;ENST00000397996:exon2:c.164+2T>G)	.	.	0.999988247793601	0.932
18	61565081	A	C	18	63897847	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999545214162103	0.94
18	61565081	A	G	18	63897847	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.995960108961791	0.8
18	61565081	A	T	18	63897847	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.998652605433044	0.828
18	61565082	A	C	18	63897848	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.366036345662712	0.314
18	61565082	A	G	18	63897848	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.757545533189235	0.344
18	61565082	A	T	18	63897848	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.88047123400622	0.436
18	61565083	A	C	18	63897849	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.17629837211186E-4	0.048
18	61565083	A	G	18	63897849	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.21634610137861E-4	0.064
18	61565083	A	T	18	63897849	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	4.01742342656394E-4	0.032
18	61565084	T	A	18	63897850	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00257306000984683	0.114
18	61565084	T	C	18	63897850	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00142927306294339	0.102
18	61565084	T	G	18	63897850	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.15862302200122E-4	0.09
18	61565085	C	A	18	63897851	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.30870955723717E-4	0.0
18	61565085	C	G	18	63897851	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.05446895406687E-5	0.004
18	61565085	C	T	18	63897851	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.05446895406687E-5	0.0
18	61565086	C	A	18	63897852	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.67087262422713E-4	0.006
18	61565086	C	G	18	63897852	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.15602679561426E-4	0.006
18	61565086	C	T	18	63897852	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.67087262422713E-4	0.006
18	61568962	T	A	18	63901728	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.998762607155633	0.966
18	61568962	T	C	18	63901728	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.62822660223839E-4	0.024
18	61568962	T	G	18	63901728	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.998417211334498	0.946
18	61568963	G	A	18	63901729	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.26612277071731E-4	0.01
18	61568963	G	C	18	63901729	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.10352819185937E-4	0.002
18	61568963	G	T	18	63901729	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.49235705372597E-5	0.002
18	61568964	T	A	18	63901730	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.8732284378098	0.76
18	61568964	T	C	18	63901730	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	8.80785046532817E-4	0.028
18	61568964	T	G	18	63901730	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.712595477640945	0.734
18	61568965	T	A	18	63901731	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.779685751179678	0.596
18	61568965	T	C	18	63901731	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.6191346659146E-4	0.034
18	61568965	T	G	18	63901731	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.553375346303791	0.566
18	61568966	T	A	18	63901732	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.023835148976241	0.238
18	61568966	T	C	18	63901732	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.89959034860191E-4	0.004
18	61568966	T	G	18	63901732	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0421028981956526	0.294
18	61568967	T	A	18	63901733	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0104623555888695	0.208
18	61568967	T	C	18	63901733	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	5.42732324940704E-5	0.04
18	61568967	T	G	18	63901733	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0715572912510431	0.23
18	61568968	C	A	18	63901734	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0058754569927405	0.21
18	61568968	C	G	18	63901734	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0058754569927405	0.188
18	61568968	C	T	18	63901734	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	6.57114508196933E-5	0.01
18	61568969	T	A	18	63901735	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999413081119253	0.896
18	61568969	T	C	18	63901735	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	5.52367860245243E-5	0.024
18	61568969	T	G	18	63901735	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.492126220906719	0.286
18	61568970	G	A	18	63901736	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.05413843117065E-4	0.0
18	61568970	G	C	18	63901736	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	4.15644385423011E-5	0.002
18	61568970	G	T	18	63901736	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	6.74645592494213E-5	0.0
18	61568971	T	A	18	63901737	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00266960078419586	0.198
18	61568971	T	C	18	63901737	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	8.41640542388809E-5	0.02
18	61568971	T	G	18	63901737	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.926147783903222	0.67
18	61568972	A	C	18	63901738	y	y	splicing	SERPINB2(NM_002575:exon6:c.536-2A>C;NM_001143818:exon7:c.536-2A>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.536-2A>C;ENST00000457692:exon7:c.536-2A>C);ENSG00000242550(ENST00000418725:exon3:c.165-2A>C;ENST00000397996:exon3:c.165-2A>C)	.	.	0.999971317418422	0.898
18	61568972	A	G	18	63901738	y	y	splicing	SERPINB2(NM_002575:exon6:c.536-2A>G;NM_001143818:exon7:c.536-2A>G)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.536-2A>G;ENST00000457692:exon7:c.536-2A>G);ENSG00000242550(ENST00000418725:exon3:c.165-2A>G;ENST00000397996:exon3:c.165-2A>G)	.	.	0.999971317418422	0.898
18	61568972	A	T	18	63901738	y	y	splicing	SERPINB2(NM_002575:exon6:c.536-2A>T;NM_001143818:exon7:c.536-2A>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.536-2A>T;ENST00000457692:exon7:c.536-2A>T);ENSG00000242550(ENST00000418725:exon3:c.165-2A>T;ENST00000397996:exon3:c.165-2A>T)	.	.	0.999951957019574	0.902
18	61568973	G	A	18	63901739	y	y	splicing	SERPINB2(NM_002575:exon6:c.536-1G>A;NM_001143818:exon7:c.536-1G>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.536-1G>A;ENST00000457692:exon7:c.536-1G>A);ENSG00000242550(ENST00000418725:exon3:c.165-1G>A;ENST00000397996:exon3:c.165-1G>A)	.	.	0.999971209564868	0.936
18	61568973	G	C	18	63901739	y	y	splicing	SERPINB2(NM_002575:exon6:c.536-1G>C;NM_001143818:exon7:c.536-1G>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.536-1G>C;ENST00000457692:exon7:c.536-1G>C);ENSG00000242550(ENST00000418725:exon3:c.165-1G>C;ENST00000397996:exon3:c.165-1G>C)	.	.	0.999960597114489	0.908
18	61568973	G	T	18	63901739	y	y	splicing	SERPINB2(NM_002575:exon6:c.536-1G>T;NM_001143818:exon7:c.536-1G>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.536-1G>T;ENST00000457692:exon7:c.536-1G>T);ENSG00000242550(ENST00000418725:exon3:c.165-1G>T;ENST00000397996:exon3:c.165-1G>T)	.	.	0.999970205305079	0.92
18	61568974	G	A	18	63901740	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.G536A:p.G179D;SERPINB2:NM_001143818:exon7:c.G536A:p.G179D;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.G536A:p.G179D;ENSG00000197632:ENST00000457692:exon7:c.G536A:p.G179D;	0.998244522414379	0.896
18	61568974	G	C	18	63901740	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.G536C:p.G179A;SERPINB2:NM_001143818:exon7:c.G536C:p.G179A;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.G536C:p.G179A;ENSG00000197632:ENST00000457692:exon7:c.G536C:p.G179A;	0.999629330463543	0.964
18	61568974	G	T	18	63901740	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.G536T:p.G179V;SERPINB2:NM_001143818:exon7:c.G536T:p.G179V;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.G536T:p.G179V;ENSG00000197632:ENST00000457692:exon7:c.G536T:p.G179V;	0.999590690047204	0.992
18	61568975	C	A	18	63901741	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon6:c.C537A:p.G179G;SERPINB2:NM_001143818:exon7:c.C537A:p.G179G;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.C537A:p.G179G;ENSG00000197632:ENST00000457692:exon7:c.C537A:p.G179G;	1.17880255202695E-4	0.014
18	61568975	C	G	18	63901741	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon6:c.C537G:p.G179G;SERPINB2:NM_001143818:exon7:c.C537G:p.G179G;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.C537G:p.G179G;ENSG00000197632:ENST00000457692:exon7:c.C537G:p.G179G;	4.08476178222294E-5	0.002
18	61568975	C	T	18	63901741	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon6:c.C537T:p.G179G;SERPINB2:NM_001143818:exon7:c.C537T:p.G179G;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.C537T:p.G179G;ENSG00000197632:ENST00000457692:exon7:c.C537T:p.G179G;	2.89820443598053E-5	0.0
18	61569114	T	A	18	63901880	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.T676A:p.S226T;SERPINB2:NM_001143818:exon7:c.T676A:p.S226T;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.T676A:p.S226T;ENSG00000197632:ENST00000457692:exon7:c.T676A:p.S226T;	4.08190909980477E-5	0.002
18	61569114	T	C	18	63901880	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.T676C:p.S226P;SERPINB2:NM_001143818:exon7:c.T676C:p.S226P;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.T676C:p.S226P;ENSG00000197632:ENST00000457692:exon7:c.T676C:p.S226P;	8.55179778683851E-5	0.054
18	61569114	T	G	18	63901880	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.T676G:p.S226A;SERPINB2:NM_001143818:exon7:c.T676G:p.S226A;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.T676G:p.S226A;ENSG00000197632:ENST00000457692:exon7:c.T676G:p.S226A;	4.77170297444007E-5	0.016
18	61569115	C	A	18	63901881	y	y	exonic	SERPINB2	stopgain SNV	SERPINB2:NM_002575:exon6:c.C677A:p.S226X;SERPINB2:NM_001143818:exon7:c.C677A:p.S226X;	exonic	ENSG00000197632;ENSG00000242550	stopgain SNV	ENSG00000197632:ENST00000299502:exon6:c.C677A:p.S226X;ENSG00000197632:ENST00000457692:exon7:c.C677A:p.S226X;	5.35979705199882E-4	0.298
18	61569115	C	G	18	63901881	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.C677G:p.S226W;SERPINB2:NM_001143818:exon7:c.C677G:p.S226W;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.C677G:p.S226W;ENSG00000197632:ENST00000457692:exon7:c.C677G:p.S226W;	0.0013960989604494	0.19
18	61569115	C	T	18	63901881	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.C677T:p.S226L;SERPINB2:NM_001143818:exon7:c.C677T:p.S226L;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.C677T:p.S226L;ENSG00000197632:ENST00000457692:exon7:c.C677T:p.S226L;	8.98635103047276E-4	0.196
18	61569116	G	A	18	63901882	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon6:c.G678A:p.S226S;SERPINB2:NM_001143818:exon7:c.G678A:p.S226S;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.G678A:p.S226S;ENSG00000197632:ENST00000457692:exon7:c.G678A:p.S226S;	0.99996932746526	0.998
18	61569116	G	C	18	63901882	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon6:c.G678C:p.S226S;SERPINB2:NM_001143818:exon7:c.G678C:p.S226S;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.G678C:p.S226S;ENSG00000197632:ENST00000457692:exon7:c.G678C:p.S226S;	0.999981214031396	1.0
18	61569116	G	T	18	63901882	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon6:c.G678T:p.S226S;SERPINB2:NM_001143818:exon7:c.G678T:p.S226S;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon6:c.G678T:p.S226S;ENSG00000197632:ENST00000457692:exon7:c.G678T:p.S226S;	0.999962936715506	0.998
18	61569117	G	A	18	63901883	y	y	splicing	SERPINB2(NM_002575:exon6:c.678+1G>A;NM_001143818:exon7:c.678+1G>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.678+1G>A;ENST00000457692:exon7:c.678+1G>A);ENSG00000242550(ENST00000418725:exon3:c.307+1G>A;ENST00000397996:exon3:c.307+1G>A)	.	.	0.999990361384395	0.936
18	61569117	G	C	18	63901883	y	y	splicing	SERPINB2(NM_002575:exon6:c.678+1G>C;NM_001143818:exon7:c.678+1G>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.678+1G>C;ENST00000457692:exon7:c.678+1G>C);ENSG00000242550(ENST00000418725:exon3:c.307+1G>C;ENST00000397996:exon3:c.307+1G>C)	.	.	0.999990361384395	0.936
18	61569117	G	T	18	63901883	y	y	splicing	SERPINB2(NM_002575:exon6:c.678+1G>T;NM_001143818:exon7:c.678+1G>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.678+1G>T;ENST00000457692:exon7:c.678+1G>T);ENSG00000242550(ENST00000418725:exon3:c.307+1G>T;ENST00000397996:exon3:c.307+1G>T)	.	.	0.999990361384395	0.936
18	61569118	T	A	18	63901884	y	y	splicing	SERPINB2(NM_002575:exon6:c.678+2T>A;NM_001143818:exon7:c.678+2T>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.678+2T>A;ENST00000457692:exon7:c.678+2T>A);ENSG00000242550(ENST00000418725:exon3:c.307+2T>A;ENST00000397996:exon3:c.307+2T>A)	.	.	0.999988247793601	0.93
18	61569118	T	C	18	63901884	y	y	splicing	SERPINB2(NM_002575:exon6:c.678+2T>C;NM_001143818:exon7:c.678+2T>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.678+2T>C;ENST00000457692:exon7:c.678+2T>C);ENSG00000242550(ENST00000418725:exon3:c.307+2T>C;ENST00000397996:exon3:c.307+2T>C)	.	.	0.99991522016916	0.882
18	61569118	T	G	18	63901884	y	y	splicing	SERPINB2(NM_002575:exon6:c.678+2T>G;NM_001143818:exon7:c.678+2T>G)	.	.	splicing	ENSG00000197632(ENST00000299502:exon6:c.678+2T>G;ENST00000457692:exon7:c.678+2T>G);ENSG00000242550(ENST00000418725:exon3:c.307+2T>G;ENST00000397996:exon3:c.307+2T>G)	.	.	0.999988247793601	0.93
18	61569119	A	C	18	63901885	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999913231172286	0.966
18	61569119	A	G	18	63901885	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.99891560244902	0.97
18	61569119	A	T	18	63901885	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999937217244821	0.98
18	61569120	T	A	18	63901886	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.52211743039653E-4	0.054
18	61569120	T	C	18	63901886	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00171341281285541	0.084
18	61569120	T	G	18	63901886	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	5.97963734462615E-4	0.08
18	61569121	G	A	18	63901887	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999981124155698	0.992
18	61569121	G	C	18	63901887	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999996272055308	0.978
18	61569121	G	T	18	63901887	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999967105545157	0.978
18	61569122	A	C	18	63901888	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0219014349346251	0.174
18	61569122	A	G	18	63901888	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00237281938776792	0.016
18	61569122	A	T	18	63901888	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	6.28425980691976E-4	0.038
18	61569123	G	A	18	63901889	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	6.84418035969586E-5	0.006
18	61569123	G	C	18	63901889	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	5.28358752416245E-5	0.006
18	61569123	G	T	18	63901889	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	8.96482868688196E-5	0.034
18	61569124	A	C	18	63901890	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.20168772066777E-5	0.0
18	61569124	A	G	18	63901890	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.16370123119142E-5	0.0
18	61569124	A	T	18	63901890	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.08240466956362E-5	0.0
18	61569626	T	A	18	63902392	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.17056286946862	0.54
18	61569626	T	C	18	63902392	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.1362764880087E-4	0.082
18	61569626	T	G	18	63902392	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.011947169208987	0.418
18	61569627	A	C	18	63902393	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	8.38041647476883E-5	0.01
18	61569627	A	G	18	63902393	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.0820428833516E-4	0.012
18	61569627	A	T	18	63902393	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.82963036646754E-4	0.146
18	61569628	A	C	18	63902394	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.60815508740895E-4	0.052
18	61569628	A	G	18	63902394	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999150139297405	0.926
18	61569628	A	T	18	63902394	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	5.93263881638447E-4	0.048
18	61569629	T	A	18	63902395	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00790862105217691	0.27
18	61569629	T	C	18	63902395	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	6.28025783242706E-5	0.018
18	61569629	T	G	18	63902395	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999656928471633	0.948
18	61569630	A	C	18	63902396	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.20422724608923E-5	0.01
18	61569630	A	G	18	63902396	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.72446198665729E-5	0.032
18	61569630	A	T	18	63902396	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	8.20483671158806E-5	0.056
18	61569631	A	C	18	63902397	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.875108102029E-5	0.002
18	61569631	A	G	18	63902397	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.986040276262965	0.98
18	61569631	A	T	18	63902397	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.98501777021816E-5	0.004
18	61569632	T	A	18	63902398	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	7.91551471072294E-4	0.288
18	61569632	T	C	18	63902398	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	8.25720715123564E-5	0.024
18	61569632	T	G	18	63902398	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.972571408521808	0.75
18	61569633	A	C	18	63902399	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.45612225627207E-5	0.0
18	61569633	A	G	18	63902399	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.9989266341305E-5	0.0
18	61569633	A	T	18	63902399	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.9857075373337E-5	0.012
18	61569634	T	A	18	63902400	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	5.66032314181324E-5	0.0
18	61569634	T	C	18	63902400	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.19031763381734E-5	0.024
18	61569634	T	G	18	63902400	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.998043899743805	0.98
18	61569635	T	A	18	63902401	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.01908688145667	0.216
18	61569635	T	C	18	63902401	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.08907988551105E-4	0.008
18	61569635	T	G	18	63902401	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.537864753420676	0.498
18	61569636	A	C	18	63902402	y	y	splicing	SERPINB2(NM_002575:exon7:c.679-2A>C;NM_001143818:exon8:c.679-2A>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.679-2A>C;ENST00000457692:exon8:c.679-2A>C);ENSG00000242550(ENST00000418725:exon4:c.308-2A>C;ENST00000397996:exon4:c.308-2A>C)	.	.	0.999954785339841	0.9
18	61569636	A	G	18	63902402	y	y	splicing	SERPINB2(NM_002575:exon7:c.679-2A>G;NM_001143818:exon8:c.679-2A>G)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.679-2A>G;ENST00000457692:exon8:c.679-2A>G);ENSG00000242550(ENST00000418725:exon4:c.308-2A>G;ENST00000397996:exon4:c.308-2A>G)	.	.	0.999954785339841	0.9
18	61569636	A	T	18	63902402	y	y	splicing	SERPINB2(NM_002575:exon7:c.679-2A>T;NM_001143818:exon8:c.679-2A>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.679-2A>T;ENST00000457692:exon8:c.679-2A>T);ENSG00000242550(ENST00000418725:exon4:c.308-2A>T;ENST00000397996:exon4:c.308-2A>T)	.	.	0.999959626360342	0.898
18	61569637	G	A	18	63902403	y	y	splicing	SERPINB2(NM_002575:exon7:c.679-1G>A;NM_001143818:exon8:c.679-1G>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.679-1G>A;ENST00000457692:exon8:c.679-1G>A);ENSG00000242550(ENST00000418725:exon4:c.308-1G>A;ENST00000397996:exon4:c.308-1G>A)	.	.	0.999961878876652	0.904
18	61569637	G	C	18	63902403	y	y	splicing	SERPINB2(NM_002575:exon7:c.679-1G>C;NM_001143818:exon8:c.679-1G>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.679-1G>C;ENST00000457692:exon8:c.679-1G>C);ENSG00000242550(ENST00000418725:exon4:c.308-1G>C;ENST00000397996:exon4:c.308-1G>C)	.	.	0.999961878876652	0.908
18	61569637	G	T	18	63902403	y	y	splicing	SERPINB2(NM_002575:exon7:c.679-1G>T;NM_001143818:exon8:c.679-1G>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.679-1G>T;ENST00000457692:exon8:c.679-1G>T);ENSG00000242550(ENST00000418725:exon4:c.308-1G>T;ENST00000397996:exon4:c.308-1G>T)	.	.	0.999961878876652	0.908
18	61569638	G	A	18	63902404	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.G679A:p.A227T;SERPINB2:NM_001143818:exon8:c.G679A:p.A227T;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.G679A:p.A227T;ENSG00000197632:ENST00000457692:exon8:c.G679A:p.A227T;	0.001435710071963	0.096
18	61569638	G	C	18	63902404	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.G679C:p.A227P;SERPINB2:NM_001143818:exon8:c.G679C:p.A227P;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.G679C:p.A227P;ENSG00000197632:ENST00000457692:exon8:c.G679C:p.A227P;	0.820394199252944	0.536
18	61569638	G	T	18	63902404	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.G679T:p.A227S;SERPINB2:NM_001143818:exon8:c.G679T:p.A227S;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.G679T:p.A227S;ENSG00000197632:ENST00000457692:exon8:c.G679T:p.A227S;	0.818150359766177	0.542
18	61569639	C	A	18	63902405	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.C680A:p.A227D;SERPINB2:NM_001143818:exon8:c.C680A:p.A227D;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.C680A:p.A227D;ENSG00000197632:ENST00000457692:exon8:c.C680A:p.A227D;	2.5582733325439E-4	0.09
18	61569639	C	G	18	63902405	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.C680G:p.A227G;SERPINB2:NM_001143818:exon8:c.C680G:p.A227G;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.C680G:p.A227G;ENSG00000197632:ENST00000457692:exon8:c.C680G:p.A227G;	6.92018240222266E-5	0.012
18	61569639	C	T	18	63902405	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.C680T:p.A227V;SERPINB2:NM_001143818:exon8:c.C680T:p.A227V;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.C680T:p.A227V;ENSG00000197632:ENST00000457692:exon8:c.C680T:p.A227V;	2.26643944539634E-5	0.134
18	61569800	C	A	18	63902566	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.C841A:p.L281M;SERPINB2:NM_001143818:exon8:c.C841A:p.L281M;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.C841A:p.L281M;ENSG00000197632:ENST00000457692:exon8:c.C841A:p.L281M;	1.16325844088055E-4	0.04
18	61569800	C	G	18	63902566	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.C841G:p.L281V;SERPINB2:NM_001143818:exon8:c.C841G:p.L281V;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.C841G:p.L281V;ENSG00000197632:ENST00000457692:exon8:c.C841G:p.L281V;	3.00869390722195E-4	0.026
18	61569800	C	T	18	63902566	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon7:c.C841T:p.L281L;SERPINB2:NM_001143818:exon8:c.C841T:p.L281L;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.C841T:p.L281L;ENSG00000197632:ENST00000457692:exon8:c.C841T:p.L281L;	4.00348286826667E-4	0.062
18	61569801	T	A	18	63902567	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.T842A:p.L281Q;SERPINB2:NM_001143818:exon8:c.T842A:p.L281Q;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.T842A:p.L281Q;ENSG00000197632:ENST00000457692:exon8:c.T842A:p.L281Q;	6.78418786473198E-4	0.154
18	61569801	T	C	18	63902567	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.T842C:p.L281P;SERPINB2:NM_001143818:exon8:c.T842C:p.L281P;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.T842C:p.L281P;ENSG00000197632:ENST00000457692:exon8:c.T842C:p.L281P;	0.00101451046173025	0.042
18	61569801	T	G	18	63902567	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon7:c.T842G:p.L281R;SERPINB2:NM_001143818:exon8:c.T842G:p.L281R;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.T842G:p.L281R;ENSG00000197632:ENST00000457692:exon8:c.T842G:p.L281R;	4.11199755494534E-4	0.048
18	61569802	G	A	18	63902568	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon7:c.G843A:p.L281L;SERPINB2:NM_001143818:exon8:c.G843A:p.L281L;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.G843A:p.L281L;ENSG00000197632:ENST00000457692:exon8:c.G843A:p.L281L;	0.99873891435776	0.952
18	61569802	G	C	18	63902568	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon7:c.G843C:p.L281L;SERPINB2:NM_001143818:exon8:c.G843C:p.L281L;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.G843C:p.L281L;ENSG00000197632:ENST00000457692:exon8:c.G843C:p.L281L;	0.999954880273197	0.92
18	61569802	G	T	18	63902568	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon7:c.G843T:p.L281L;SERPINB2:NM_001143818:exon8:c.G843T:p.L281L;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon7:c.G843T:p.L281L;ENSG00000197632:ENST00000457692:exon8:c.G843T:p.L281L;	0.998903897965755	0.924
18	61569803	G	A	18	63902569	y	y	splicing	SERPINB2(NM_002575:exon7:c.843+1G>A;NM_001143818:exon8:c.843+1G>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.843+1G>A;ENST00000457692:exon8:c.843+1G>A);ENSG00000242550(ENST00000418725:exon4:c.472+1G>A;ENST00000397996:exon4:c.472+1G>A)	.	.	0.999938990645747	0.946
18	61569803	G	C	18	63902569	y	y	splicing	SERPINB2(NM_002575:exon7:c.843+1G>C;NM_001143818:exon8:c.843+1G>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.843+1G>C;ENST00000457692:exon8:c.843+1G>C);ENSG00000242550(ENST00000418725:exon4:c.472+1G>C;ENST00000397996:exon4:c.472+1G>C)	.	.	0.999938990645747	0.938
18	61569803	G	T	18	63902569	y	y	splicing	SERPINB2(NM_002575:exon7:c.843+1G>T;NM_001143818:exon8:c.843+1G>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.843+1G>T;ENST00000457692:exon8:c.843+1G>T);ENSG00000242550(ENST00000418725:exon4:c.472+1G>T;ENST00000397996:exon4:c.472+1G>T)	.	.	0.999938990645747	0.924
18	61569804	T	A	18	63902570	y	y	splicing	SERPINB2(NM_002575:exon7:c.843+2T>A;NM_001143818:exon8:c.843+2T>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.843+2T>A;ENST00000457692:exon8:c.843+2T>A);ENSG00000242550(ENST00000418725:exon4:c.472+2T>A;ENST00000397996:exon4:c.472+2T>A)	.	.	0.999971317418422	0.894
18	61569804	T	C	18	63902570	y	y	splicing	SERPINB2(NM_002575:exon7:c.843+2T>C;NM_001143818:exon8:c.843+2T>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.843+2T>C;ENST00000457692:exon8:c.843+2T>C);ENSG00000242550(ENST00000418725:exon4:c.472+2T>C;ENST00000397996:exon4:c.472+2T>C)	.	.	0.999722375968564	0.836
18	61569804	T	G	18	63902570	y	y	splicing	SERPINB2(NM_002575:exon7:c.843+2T>G;NM_001143818:exon8:c.843+2T>G)	.	.	splicing	ENSG00000197632(ENST00000299502:exon7:c.843+2T>G;ENST00000457692:exon8:c.843+2T>G);ENSG00000242550(ENST00000418725:exon4:c.472+2T>G;ENST00000397996:exon4:c.472+2T>G)	.	.	0.999971317418422	0.886
18	61569805	A	C	18	63902571	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.989779090875528	0.842
18	61569805	A	G	18	63902571	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00503223133662006	0.246
18	61569805	A	T	18	63902571	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.997155560452051	0.86
18	61569806	A	C	18	63902572	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.148392790702379	0.374
18	61569806	A	G	18	63902572	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.769101096835034	0.574
18	61569806	A	T	18	63902572	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.769101096835034	0.552
18	61569807	G	A	18	63902573	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999488926890612	0.7
18	61569807	G	C	18	63902573	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.998630787316815	0.844
18	61569807	G	T	18	63902573	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.998270598523586	0.676
18	61569808	A	C	18	63902574	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.68342520228921E-5	0.01
18	61569808	A	G	18	63902574	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.12279110935323E-5	0.0
18	61569808	A	T	18	63902574	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.09716557761419E-5	0.0
18	61569809	C	A	18	63902575	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.48505497700598E-5	0.018
18	61569809	C	G	18	63902575	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.10130701536243E-4	0.026
18	61569809	C	T	18	63902575	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	5.59442214495017E-5	0.04
18	61569810	A	C	18	63902576	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.07256548728156E-5	0.0
18	61569810	A	G	18	63902576	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.49987850486752E-5	0.0
18	61569810	A	T	18	63902576	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.03145475635441E-4	0.0
18	61570123	T	A	18	63902889	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.132984354677824	0.394
18	61570123	T	C	18	63902889	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.92416841903067E-4	0.026
18	61570123	T	G	18	63902889	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.111026217783747	0.326
18	61570124	T	A	18	63902890	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0698994511585274	0.342
18	61570124	T	C	18	63902890	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	6.42756505528431E-4	0.096
18	61570124	T	G	18	63902890	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0067474362321902	0.232
18	61570125	T	A	18	63902891	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.998242357982368	0.914
18	61570125	T	C	18	63902891	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	4.81963393425724E-5	0.006
18	61570125	T	G	18	63902891	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00578266594682059	0.204
18	61570126	G	A	18	63902892	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	6.98495050953745E-4	0.014
18	61570126	G	C	18	63902892	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	8.34697379041684E-5	0.0
18	61570126	G	T	18	63902892	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	7.33535600660965E-5	0.0
18	61570127	C	A	18	63902893	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.34291356757502E-4	0.014
18	61570127	C	G	18	63902893	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	1.21950953722674E-4	0.02
18	61570127	C	T	18	63902893	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	2.22520464143263E-5	0.01
18	61570128	T	A	18	63902894	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00595203941391714	0.178
18	61570128	T	C	18	63902894	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	8.2384449985581E-5	0.002
18	61570128	T	G	18	63902894	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00714299288448083	0.168
18	61570129	T	A	18	63902895	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.587849289580176	0.448
18	61570129	T	C	18	63902895	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00127928548111113	0.048
18	61570129	T	G	18	63902895	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.627673890220601	0.458
18	61570130	T	A	18	63902896	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999258163303959	0.928
18	61570130	T	C	18	63902896	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.00408066535700656	0.018
18	61570130	T	G	18	63902896	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0523561158995621	0.4
18	61570131	G	A	18	63902897	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.26939477813481E-5	0.0
18	61570131	G	C	18	63902897	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	3.68247837766282E-5	0.0
18	61570131	G	T	18	63902897	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	9.26939477813481E-5	0.004
18	61570132	C	A	18	63902898	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.274939663852139	0.374
18	61570132	C	G	18	63902898	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.999580988420097	0.956
18	61570132	C	T	18	63902898	y	y	intronic	SERPINB2	.	.	intronic	ENSG00000197632;ENSG00000242550	.	.	0.0019518725968977	0.104
18	61570133	A	C	18	63902899	y	y	splicing	SERPINB2(NM_002575:exon8:c.844-2A>C;NM_001143818:exon9:c.844-2A>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon8:c.844-2A>C;ENST00000457692:exon9:c.844-2A>C);ENSG00000242550(ENST00000418725:exon5:c.473-2A>C;ENST00000397996:exon5:c.473-2A>C)	.	.	0.999988247793601	0.926
18	61570133	A	G	18	63902899	y	y	splicing	SERPINB2(NM_002575:exon8:c.844-2A>G;NM_001143818:exon9:c.844-2A>G)	.	.	splicing	ENSG00000197632(ENST00000299502:exon8:c.844-2A>G;ENST00000457692:exon9:c.844-2A>G);ENSG00000242550(ENST00000418725:exon5:c.473-2A>G;ENST00000397996:exon5:c.473-2A>G)	.	.	0.999988247793601	0.926
18	61570133	A	T	18	63902899	y	y	splicing	SERPINB2(NM_002575:exon8:c.844-2A>T;NM_001143818:exon9:c.844-2A>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon8:c.844-2A>T;ENST00000457692:exon9:c.844-2A>T);ENSG00000242550(ENST00000418725:exon5:c.473-2A>T;ENST00000397996:exon5:c.473-2A>T)	.	.	0.999988247793601	0.926
18	61570134	G	A	18	63902900	y	y	splicing	SERPINB2(NM_002575:exon8:c.844-1G>A;NM_001143818:exon9:c.844-1G>A)	.	.	splicing	ENSG00000197632(ENST00000299502:exon8:c.844-1G>A;ENST00000457692:exon9:c.844-1G>A);ENSG00000242550(ENST00000418725:exon5:c.473-1G>A;ENST00000397996:exon5:c.473-1G>A)	.	.	0.999986675681007	0.932
18	61570134	G	C	18	63902900	y	y	splicing	SERPINB2(NM_002575:exon8:c.844-1G>C;NM_001143818:exon9:c.844-1G>C)	.	.	splicing	ENSG00000197632(ENST00000299502:exon8:c.844-1G>C;ENST00000457692:exon9:c.844-1G>C);ENSG00000242550(ENST00000418725:exon5:c.473-1G>C;ENST00000397996:exon5:c.473-1G>C)	.	.	0.999986675681007	0.93
18	61570134	G	T	18	63902900	y	y	splicing	SERPINB2(NM_002575:exon8:c.844-1G>T;NM_001143818:exon9:c.844-1G>T)	.	.	splicing	ENSG00000197632(ENST00000299502:exon8:c.844-1G>T;ENST00000457692:exon9:c.844-1G>T);ENSG00000242550(ENST00000418725:exon5:c.473-1G>T;ENST00000397996:exon5:c.473-1G>T)	.	.	0.999986675681007	0.93
18	61570135	C	A	18	63902901	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon8:c.C844A:p.L282M;SERPINB2:NM_001143818:exon9:c.C844A:p.L282M;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon8:c.C844A:p.L282M;ENSG00000197632:ENST00000457692:exon9:c.C844A:p.L282M;	0.00390061765804138	0.14
18	61570135	C	G	18	63902901	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon8:c.C844G:p.L282V;SERPINB2:NM_001143818:exon9:c.C844G:p.L282V;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon8:c.C844G:p.L282V;ENSG00000197632:ENST00000457692:exon9:c.C844G:p.L282V;	4.15004843643052E-4	0.112
18	61570135	C	T	18	63902901	y	y	exonic	SERPINB2	synonymous SNV	SERPINB2:NM_002575:exon8:c.C844T:p.L282L;SERPINB2:NM_001143818:exon9:c.C844T:p.L282L;	exonic	ENSG00000197632;ENSG00000242550	synonymous SNV	ENSG00000197632:ENST00000299502:exon8:c.C844T:p.L282L;ENSG00000197632:ENST00000457692:exon9:c.C844T:p.L282L;	0.0011089127542586	0.066
18	61570136	T	A	18	63902902	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon8:c.T845A:p.L282Q;SERPINB2:NM_001143818:exon9:c.T845A:p.L282Q;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon8:c.T845A:p.L282Q;ENSG00000197632:ENST00000457692:exon9:c.T845A:p.L282Q;	0.251948821872654	0.468
18	61570136	T	C	18	63902902	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon8:c.T845C:p.L282P;SERPINB2:NM_001143818:exon9:c.T845C:p.L282P;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon8:c.T845C:p.L282P;ENSG00000197632:ENST00000457692:exon9:c.T845C:p.L282P;	0.195998078868183	0.426
18	61570136	T	G	18	63902902	y	y	exonic	SERPINB2	nonsynonymous SNV	SERPINB2:NM_002575:exon8:c.T845G:p.L282R;SERPINB2:NM_001143818:exon9:c.T845G:p.L282R;	exonic	ENSG00000197632;ENSG00000242550	nonsynonymous SNV	ENSG00000197632:ENST00000299502:exon8:c.T845G:p.L282R;ENSG00000197632:ENST00000457692:exon9:c.T845G:p.L282R;	0.177269449167221	0.424
18	61582724	T	A	18	63915490	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.04096031973704E-5	0.002
18	61582724	T	C	18	63915490	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.87698428322107E-5	0.002
18	61582724	T	G	18	63915490	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.87698428322107E-5	0.002
18	61582725	A	C	18	63915491	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.08593451297961E-5	0.006
18	61582725	A	G	18	63915491	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.08593451297961E-5	0.006
18	61582725	A	T	18	63915491	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.67738868662274E-5	0.0
18	61582726	T	A	18	63915492	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.25211152755068E-5	0.0
18	61582726	T	C	18	63915492	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.25211152755068E-5	0.0
18	61582726	T	G	18	63915492	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.25211152755068E-5	0.0
18	61582727	T	A	18	63915493	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.38731564659595E-5	0.002
18	61582727	T	C	18	63915493	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.96404089075045E-5	0.002
18	61582727	T	G	18	63915493	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.96404089075045E-5	0.002
18	61582728	T	A	18	63915494	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.59360374706247E-5	0.014
18	61582728	T	C	18	63915494	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.28285392482944E-4	0.184
18	61582728	T	G	18	63915494	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.28285392482944E-4	0.136
18	61582729	T	A	18	63915495	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.28285392482944E-4	0.048
18	61582729	T	C	18	63915495	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.40482239652621E-5	0.038
18	61582729	T	G	18	63915495	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.40482239652621E-5	0.038
18	61582730	T	A	18	63915496	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.49745092444763E-5	0.0
18	61582730	T	C	18	63915496	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.26424982550682E-5	0.0
18	61582730	T	G	18	63915496	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.26424982550682E-5	0.0
18	61582731	C	A	18	63915497	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.86431456331734E-5	0.002
18	61582731	C	G	18	63915497	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.20695034961553E-5	0.032
18	61582731	C	T	18	63915497	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.86431456331734E-5	0.002
18	61582732	T	A	18	63915498	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.0086940530158E-5	0.0
18	61582732	T	C	18	63915498	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.0086940530158E-5	0.0
18	61582732	T	G	18	63915498	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.0086940530158E-5	0.0
18	61582733	T	A	18	63915499	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.4631346304159E-5	0.0
18	61582733	T	C	18	63915499	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.4631346304159E-5	0.0
18	61582733	T	G	18	63915499	n	y	upstream	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.4631346304159E-5	0.0
18	61582734	A	C	18	63915500	n	y	upstream	SERPINB10	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.548-2A>C;ENST00000397996:exon7:c.629-2A>C)	.	.	0.0045802311785222	0.024
18	61582734	A	G	18	63915500	n	y	upstream	SERPINB10	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.548-2A>G;ENST00000397996:exon7:c.629-2A>G)	.	.	0.0045802311785222	0.028
18	61582734	A	T	18	63915500	n	y	upstream	SERPINB10	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.548-2A>T;ENST00000397996:exon7:c.629-2A>T)	.	.	0.0045802311785222	0.018
18	61582735	G	A	18	63915501	n	y	upstream	SERPINB10	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.548-1G>A;ENST00000397996:exon7:c.629-1G>A)	.	.	0.00161864645900532	0.022
18	61582735	G	C	18	63915501	n	y	upstream	SERPINB10	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.548-1G>C;ENST00000397996:exon7:c.629-1G>C)	.	.	0.00109144849427603	0.012
18	61582735	G	T	18	63915501	n	y	upstream	SERPINB10	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.548-1G>T;ENST00000397996:exon7:c.629-1G>T)	.	.	0.00109144849427603	0.012
18	61582736	G	A	18	63915502	n	y	upstream	SERPINB10	.	.	exonic	ENSG00000242550	unknown	UNKNOWN	8.06173808797179E-5	0.0
18	61582736	G	C	18	63915502	n	y	upstream	SERPINB10	.	.	exonic	ENSG00000242550	unknown	UNKNOWN	4.91433598120572E-5	0.06
18	61582736	G	T	18	63915502	n	y	upstream	SERPINB10	.	.	exonic	ENSG00000242550	unknown	UNKNOWN	8.06173808797179E-5	0.0
18	61582737	T	A	18	63915503	n	y	upstream	SERPINB10	.	.	exonic	ENSG00000242550	unknown	UNKNOWN	9.20280983578417E-5	0.0
18	61582737	T	C	18	63915503	n	y	upstream	SERPINB10	.	.	exonic	ENSG00000242550	unknown	UNKNOWN	3.9469183429777E-5	0.0
18	61582737	T	G	18	63915503	n	y	upstream	SERPINB10	.	.	exonic	ENSG00000242550	unknown	UNKNOWN	1.63915916572906E-4	0.002
18	61582910	C	A	18	63915676	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon1:c.C166A:p.Q56K;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon2:c.C166A:p.Q56K;	5.1709318490363E-5	0.016
18	61582910	C	G	18	63915676	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon1:c.C166G:p.Q56E;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon2:c.C166G:p.Q56E;	2.35881098419296E-4	0.004
18	61582910	C	T	18	63915676	y	y	exonic	SERPINB10	stopgain SNV	SERPINB10:NM_005024:exon1:c.C166T:p.Q56X;	exonic	ENSG00000242550	stopgain SNV	ENSG00000242550:ENST00000238508:exon2:c.C166T:p.Q56X;	0.00465371479148122	0.202
18	61582911	A	C	18	63915677	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon1:c.A167C:p.Q56P;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon2:c.A167C:p.Q56P;	0.994353597118815	0.882
18	61582911	A	G	18	63915677	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon1:c.A167G:p.Q56R;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon2:c.A167G:p.Q56R;	0.997699450252168	0.956
18	61582911	A	T	18	63915677	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon1:c.A167T:p.Q56L;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon2:c.A167T:p.Q56L;	0.99858543065615	0.862
18	61582912	G	A	18	63915678	y	y	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon1:c.G168A:p.Q56Q;	exonic	ENSG00000242550	synonymous SNV	ENSG00000242550:ENST00000238508:exon2:c.G168A:p.Q56Q;	0.865577433682825	0.46
18	61582912	G	C	18	63915678	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon1:c.G168C:p.Q56H;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon2:c.G168C:p.Q56H;	0.999850947822632	0.938
18	61582912	G	T	18	63915678	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon1:c.G168T:p.Q56H;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon2:c.G168T:p.Q56H;	0.999827509359863	0.902
18	61582913	G	A	18	63915679	y	y	splicing	SERPINB10(NM_005024:exon1:c.168+1G>A)	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.724+1G>A;ENST00000397996:exon7:c.805+1G>A;ENST00000238508:exon2:c.168+1G>A)	.	.	0.999982737877662	0.938
18	61582913	G	C	18	63915679	y	y	splicing	SERPINB10(NM_005024:exon1:c.168+1G>C)	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.724+1G>C;ENST00000397996:exon7:c.805+1G>C;ENST00000238508:exon2:c.168+1G>C)	.	.	0.99995545544995	0.932
18	61582913	G	T	18	63915679	y	y	splicing	SERPINB10(NM_005024:exon1:c.168+1G>T)	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.724+1G>T;ENST00000397996:exon7:c.805+1G>T;ENST00000238508:exon2:c.168+1G>T)	.	.	0.999982737877662	0.932
18	61582914	T	A	18	63915680	y	y	splicing	SERPINB10(NM_005024:exon1:c.168+2T>A)	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.724+2T>A;ENST00000397996:exon7:c.805+2T>A;ENST00000238508:exon2:c.168+2T>A)	.	.	0.999929788044964	0.9
18	61582914	T	C	18	63915680	y	y	splicing	SERPINB10(NM_005024:exon1:c.168+2T>C)	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.724+2T>C;ENST00000397996:exon7:c.805+2T>C;ENST00000238508:exon2:c.168+2T>C)	.	.	0.999668551585638	0.828
18	61582914	T	G	18	63915680	y	y	splicing	SERPINB10(NM_005024:exon1:c.168+2T>G)	.	.	splicing	ENSG00000242550(ENST00000418725:exon6:c.724+2T>G;ENST00000397996:exon7:c.805+2T>G;ENST00000238508:exon2:c.168+2T>G)	.	.	0.99992733903646	0.884
18	61582915	G	A	18	63915681	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.27710111284455E-5	0.0
18	61582915	G	C	18	63915681	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0276895611325883	0.42
18	61582915	G	T	18	63915681	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0215003851155867	0.418
18	61582916	A	C	18	63915682	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.685421550067815	0.558
18	61582916	A	G	18	63915682	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.519317521956669	0.502
18	61582916	A	T	18	63915682	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.989200124301144	0.688
18	61582917	G	A	18	63915683	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999633139638877	0.94
18	61582917	G	C	18	63915683	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999719668861683	0.852
18	61582917	G	T	18	63915683	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999770746432746	0.9
18	61582918	T	A	18	63915684	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00882566274982942	0.236
18	61582918	T	C	18	63915684	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00665652783787933	0.312
18	61582918	T	G	18	63915684	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00104891640702445	0.138
18	61582919	G	A	18	63915685	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	7.40138300680424E-5	0.0
18	61582919	G	C	18	63915685	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.70604693036619E-5	0.0
18	61582919	G	T	18	63915685	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.28135597055893E-4	0.0
18	61582920	G	A	18	63915686	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.76890987822529E-5	0.0
18	61582920	G	C	18	63915686	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.1011603121178E-5	0.0
18	61582920	G	T	18	63915686	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.1011603121178E-5	0.0
18	61584678	T	A	18	63917444	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00686353525322377	0.33
18	61584678	T	C	18	63917444	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0056045638882888	0.078
18	61584678	T	G	18	63917444	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999933617689406	0.978
18	61584679	T	A	18	63917445	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999967059290958	0.97
18	61584679	T	C	18	63917445	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0393975847382994	0.352
18	61584679	T	G	18	63917445	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.830498561962269	0.61
18	61584680	G	A	18	63917446	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.93279151717726E-4	0.022
18	61584680	G	C	18	63917446	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.86051014147454E-5	0.01
18	61584680	G	T	18	63917446	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.86051014147454E-5	0.004
18	61584681	A	C	18	63917447	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.06894389529578E-4	0.014
18	61584681	A	G	18	63917447	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.26363716491563E-4	0.026
18	61584681	A	T	18	63917447	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.65583247766112E-4	0.026
18	61584682	A	C	18	63917448	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.39935267629648E-4	0.004
18	61584682	A	G	18	63917448	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999366141458668	0.948
18	61584682	A	T	18	63917448	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.36697734271026E-4	0.008
18	61584683	A	C	18	63917449	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.09725813547102E-5	0.0
18	61584683	A	G	18	63917449	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.989224647168415	0.982
18	61584683	A	T	18	63917449	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.09725813547102E-5	0.002
18	61584684	T	A	18	63917450	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.950384285573553	0.686
18	61584684	T	C	18	63917450	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.80982880194733E-4	0.034
18	61584684	T	G	18	63917450	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.99991645817704	0.982
18	61584685	T	A	18	63917451	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.624176451235638	0.274
18	61584685	T	C	18	63917451	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00471290674099499	0.164
18	61584685	T	G	18	63917451	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.786107507889358	0.328
18	61584686	A	C	18	63917452	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.06694525943223E-5	0.02
18	61584686	A	G	18	63917452	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.67941261773922E-4	0.012
18	61584686	A	T	18	63917452	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	7.05384511857899E-5	0.002
18	61584687	C	A	18	63917453	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.953042110784309	0.718
18	61584687	C	G	18	63917453	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999136297596058	0.762
18	61584687	C	T	18	63917453	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00149779677576743	0.098
18	61584688	A	C	18	63917454	y	y	splicing	SERPINB10(NM_005024:exon2:c.169-2A>C)	.	.	splicing	ENSG00000242550(ENST00000418725:exon7:c.725-2A>C;ENST00000397996:exon8:c.806-2A>C;ENST00000238508:exon3:c.169-2A>C)	.	.	0.99993872479901	0.95
18	61584688	A	G	18	63917454	y	y	splicing	SERPINB10(NM_005024:exon2:c.169-2A>G)	.	.	splicing	ENSG00000242550(ENST00000418725:exon7:c.725-2A>G;ENST00000397996:exon8:c.806-2A>G;ENST00000238508:exon3:c.169-2A>G)	.	.	0.99993872479901	0.95
18	61584688	A	T	18	63917454	y	y	splicing	SERPINB10(NM_005024:exon2:c.169-2A>T)	.	.	splicing	ENSG00000242550(ENST00000418725:exon7:c.725-2A>T;ENST00000397996:exon8:c.806-2A>T;ENST00000238508:exon3:c.169-2A>T)	.	.	0.99993872479901	0.936
18	61584689	G	A	18	63917455	y	y	splicing	SERPINB10(NM_005024:exon2:c.169-1G>A)	.	.	splicing	ENSG00000242550(ENST00000418725:exon7:c.725-1G>A;ENST00000397996:exon8:c.806-1G>A;ENST00000238508:exon3:c.169-1G>A)	.	.	0.999949744469354	0.936
18	61584689	G	C	18	63917455	y	y	splicing	SERPINB10(NM_005024:exon2:c.169-1G>C)	.	.	splicing	ENSG00000242550(ENST00000418725:exon7:c.725-1G>C;ENST00000397996:exon8:c.806-1G>C;ENST00000238508:exon3:c.169-1G>C)	.	.	0.999949744469354	0.946
18	61584689	G	T	18	63917455	y	y	splicing	SERPINB10(NM_005024:exon2:c.169-1G>T)	.	.	splicing	ENSG00000242550(ENST00000418725:exon7:c.725-1G>T;ENST00000397996:exon8:c.806-1G>T;ENST00000238508:exon3:c.169-1G>T)	.	.	0.999949744469354	0.946
18	61584690	G	A	18	63917456	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.G169A:p.V57M;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.G169A:p.V57M;	0.999836663679675	0.912
18	61584690	G	C	18	63917456	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.G169C:p.V57L;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.G169C:p.V57L;	0.999872818625238	0.98
18	61584690	G	T	18	63917456	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.G169T:p.V57L;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.G169T:p.V57L;	0.999950645515967	0.988
18	61584691	T	A	18	63917457	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.T170A:p.V57E;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.T170A:p.V57E;	0.143532903389551	0.332
18	61584691	T	C	18	63917457	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.T170C:p.V57A;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.T170C:p.V57A;	0.0035933970240646	0.116
18	61584691	T	G	18	63917457	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.T170G:p.V57G;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.T170G:p.V57G;	0.0115931047922032	0.116
18	61584753	A	C	18	63917519	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.A232C:p.M78L;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.A232C:p.M78L;	6.11450540230058E-5	0.006
18	61584753	A	G	18	63917519	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.A232G:p.M78V;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.A232G:p.M78V;	0.0123130856052139	0.142
18	61584753	A	T	18	63917519	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.A232T:p.M78L;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.A232T:p.M78L;	0.93932811576401	0.572
18	61584754	T	A	18	63917520	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.T233A:p.M78K;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.T233A:p.M78K;	0.00127259783526068	0.256
18	61584754	T	C	18	63917520	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.T233C:p.M78T;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.T233C:p.M78T;	1.28605914589839E-4	0.098
18	61584754	T	G	18	63917520	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.T233G:p.M78R;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.T233G:p.M78R;	0.00288832321540787	0.112
18	61584755	G	A	18	63917521	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.G234A:p.M78I;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.G234A:p.M78I;	0.99997871919798	0.992
18	61584755	G	C	18	63917521	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.G234C:p.M78I;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.G234C:p.M78I;	0.999991901498284	0.982
18	61584755	G	T	18	63917521	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon2:c.G234T:p.M78I;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon3:c.G234T:p.M78I;	0.999989275468222	0.962
18	61584756	G	A	18	63917522	y	y	splicing	SERPINB10(NM_005024:exon2:c.234+1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon3:c.234+1G>A)	.	.	0.999949744469354	0.95
18	61584756	G	C	18	63917522	y	y	splicing	SERPINB10(NM_005024:exon2:c.234+1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon3:c.234+1G>C)	.	.	0.999950207824055	0.954
18	61584756	G	T	18	63917522	y	y	splicing	SERPINB10(NM_005024:exon2:c.234+1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon3:c.234+1G>T)	.	.	0.999949744469354	0.95
18	61584757	T	A	18	63917523	y	y	splicing	SERPINB10(NM_005024:exon2:c.234+2T>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon3:c.234+2T>A)	.	.	0.99993872479901	0.954
18	61584757	T	C	18	63917523	y	y	splicing	SERPINB10(NM_005024:exon2:c.234+2T>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon3:c.234+2T>C)	.	.	0.977882330794869	0.722
18	61584757	T	G	18	63917523	y	y	splicing	SERPINB10(NM_005024:exon2:c.234+2T>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon3:c.234+2T>G)	.	.	0.99993928974862	0.958
18	61584758	A	C	18	63917524	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999866554921649	0.942
18	61584758	A	G	18	63917524	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999332732348396	0.926
18	61584758	A	T	18	63917524	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999866554921649	0.968
18	61584759	T	A	18	63917525	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.62151613971268E-4	0.016
18	61584759	T	C	18	63917525	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.52705870481299E-5	0.008
18	61584759	T	G	18	63917525	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.77598541389643E-4	0.042
18	61584760	A	C	18	63917526	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00136247690703952	0.052
18	61584760	A	G	18	63917526	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.24542788803848E-4	0.032
18	61584760	A	T	18	63917526	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.96129411751454E-4	0.04
18	61584761	T	A	18	63917527	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.816953915819458	0.594
18	61584761	T	C	18	63917527	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.10485825740184	0.476
18	61584761	T	G	18	63917527	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0193700055332914	0.368
18	61584762	C	A	18	63917528	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.27941062669115E-4	0.0
18	61584762	C	G	18	63917528	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.04196465146587E-4	0.028
18	61584762	C	T	18	63917528	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.93265191529056E-4	0.008
18	61584763	T	A	18	63917529	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.75434879426373E-4	0.01
18	61584763	T	C	18	63917529	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.63765695124567E-5	0.0
18	61584763	T	G	18	63917529	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.11994839368277E-4	0.014
18	61585187	T	A	18	63917953	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.73224558458435E-4	0.048
18	61585187	T	C	18	63917953	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.8807219122042E-4	0.0
18	61585187	T	G	18	63917953	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.64897969168373E-4	0.076
18	61585188	C	A	18	63917954	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.50616103612643E-4	0.038
18	61585188	C	G	18	63917954	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.8646992525937E-4	0.012
18	61585188	C	T	18	63917954	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.26708417450023E-5	0.004
18	61585189	T	A	18	63917955	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0233374291628023	0.168
18	61585189	T	C	18	63917955	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.61490149897392E-4	0.002
18	61585189	T	G	18	63917955	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00386758342325684	0.12
18	61585190	C	A	18	63917956	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.44722621100628E-4	0.036
18	61585190	C	G	18	63917956	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.17625101579548E-4	0.062
18	61585190	C	T	18	63917956	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.40860943668739E-5	0.146
18	61585191	T	A	18	63917957	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00578044363188774	0.13
18	61585191	T	C	18	63917957	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.02117334562156E-5	0.01
18	61585191	T	G	18	63917957	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00210739485860499	0.076
18	61585192	T	A	18	63917958	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.012172433236211	0.094
18	61585192	T	C	18	63917958	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.40835587358647E-4	0.0
18	61585192	T	G	18	63917958	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.011634170973302	0.102
18	61585193	T	A	18	63917959	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0673755023947353	0.13
18	61585193	T	C	18	63917959	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.74008582319669E-4	0.034
18	61585193	T	G	18	63917959	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.120618232882725	0.174
18	61585194	T	A	18	63917960	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00215845970155978	0.178
18	61585194	T	C	18	63917960	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00243993691612928	0.058
18	61585194	T	G	18	63917960	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.171103816519698	0.318
18	61585195	A	C	18	63917961	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.34529723503911E-5	0.0
18	61585195	A	G	18	63917961	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.42868297461541E-5	0.0
18	61585195	A	T	18	63917961	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.7838844377976E-5	0.0
18	61585196	A	C	18	63917962	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.75078690575967E-4	0.094
18	61585196	A	G	18	63917962	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.747062703133495	0.422
18	61585196	A	T	18	63917962	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.31018582067291E-4	0.004
18	61585197	A	C	18	63917963	y	y	splicing	SERPINB10(NM_005024:exon3:c.235-2A>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.235-2A>C)	.	.	0.99994568797423	0.948
18	61585197	A	G	18	63917963	y	y	splicing	SERPINB10(NM_005024:exon3:c.235-2A>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.235-2A>G)	.	.	0.99994568797423	0.948
18	61585197	A	T	18	63917963	y	y	splicing	SERPINB10(NM_005024:exon3:c.235-2A>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.235-2A>T)	.	.	0.99994568797423	0.944
18	61585198	G	A	18	63917964	y	y	splicing	SERPINB10(NM_005024:exon3:c.235-1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.235-1G>A)	.	.	0.99995545544995	0.934
18	61585198	G	C	18	63917964	y	y	splicing	SERPINB10(NM_005024:exon3:c.235-1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.235-1G>C)	.	.	0.99995545544995	0.944
18	61585198	G	T	18	63917964	y	y	splicing	SERPINB10(NM_005024:exon3:c.235-1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.235-1G>T)	.	.	0.99995545544995	0.938
18	61585199	G	A	18	63917965	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.G235A:p.E79K;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.G235A:p.E79K;	0.999712497730116	0.822
18	61585199	G	C	18	63917965	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.G235C:p.E79Q;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.G235C:p.E79Q;	0.999853737205351	0.97
18	61585199	G	T	18	63917965	y	y	exonic	SERPINB10	stopgain SNV	SERPINB10:NM_005024:exon3:c.G235T:p.E79X;	exonic	ENSG00000242550	stopgain SNV	ENSG00000242550:ENST00000238508:exon4:c.G235T:p.E79X;	0.999936371710095	0.974
18	61585200	A	C	18	63917966	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A236C:p.E79A;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A236C:p.E79A;	0.00686341504942834	0.156
18	61585200	A	G	18	63917966	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A236G:p.E79G;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A236G:p.E79G;	0.780946966900653	0.658
18	61585200	A	T	18	63917966	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A236T:p.E79V;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A236T:p.E79V;	0.228155595592589	0.512
18	61585334	A	C	18	63918100	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A370C:p.N124H;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A370C:p.N124H;	0.00169863798376386	0.022
18	61585334	A	G	18	63918100	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A370G:p.N124D;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A370G:p.N124D;	0.00464073895202913	0.068
18	61585334	A	T	18	63918100	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A370T:p.N124Y;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A370T:p.N124Y;	0.440981531625651	0.412
18	61585335	A	C	18	63918101	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A371C:p.N124T;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A371C:p.N124T;	0.0392854608276301	0.5
18	61585335	A	G	18	63918101	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A371G:p.N124S;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A371G:p.N124S;	0.0241867426349718	0.32
18	61585335	A	T	18	63918101	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.A371T:p.N124I;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.A371T:p.N124I;	0.0692301161572599	0.52
18	61585336	T	A	18	63918102	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.T372A:p.N124K;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.T372A:p.N124K;	2.36128853060643E-5	0.006
18	61585336	T	C	18	63918102	y	y	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon3:c.T372C:p.N124N;	exonic	ENSG00000242550	synonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.T372C:p.N124N;	4.20722394361701E-5	0.002
18	61585336	T	G	18	63918102	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon3:c.T372G:p.N124K;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon4:c.T372G:p.N124K;	4.73124795508795E-5	0.022
18	61585337	G	A	18	63918103	y	y	splicing	SERPINB10(NM_005024:exon3:c.372+1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.372+1G>A)	.	.	0.999990361384395	0.938
18	61585337	G	C	18	63918103	y	y	splicing	SERPINB10(NM_005024:exon3:c.372+1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.372+1G>C)	.	.	0.999990361384395	0.938
18	61585337	G	T	18	63918103	y	y	splicing	SERPINB10(NM_005024:exon3:c.372+1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.372+1G>T)	.	.	0.999990361384395	0.938
18	61585338	T	A	18	63918104	y	y	splicing	SERPINB10(NM_005024:exon3:c.372+2T>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.372+2T>A)	.	.	0.999988247793601	0.93
18	61585338	T	C	18	63918104	y	y	splicing	SERPINB10(NM_005024:exon3:c.372+2T>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.372+2T>C)	.	.	0.98918007292081	0.692
18	61585338	T	G	18	63918104	y	y	splicing	SERPINB10(NM_005024:exon3:c.372+2T>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon4:c.372+2T>G)	.	.	0.999988247793601	0.93
18	61585339	A	C	18	63918105	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.998664891821079	0.764
18	61585339	A	G	18	63918105	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	7.09000341416721E-4	0.1
18	61585339	A	T	18	63918105	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.995516722731404	0.676
18	61585340	A	C	18	63918106	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.950887880897586	0.61
18	61585340	A	G	18	63918106	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.996255689810808	0.84
18	61585340	A	T	18	63918106	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.988359545031985	0.754
18	61585341	G	A	18	63918107	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999876210872318	0.92
18	61585341	G	C	18	63918107	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999282953167674	0.88
18	61585341	G	T	18	63918107	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999925686820016	0.906
18	61585342	T	A	18	63918108	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.932924984080852	0.682
18	61585342	T	C	18	63918108	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.892479263741409	0.708
18	61585342	T	G	18	63918108	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.882474292354121	0.664
18	61585343	G	A	18	63918109	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.60520968710926E-5	0.0
18	61585343	G	C	18	63918109	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.75129939195213E-5	0.0
18	61585343	G	T	18	63918109	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.98044437503475E-5	0.0
18	61585344	C	A	18	63918110	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.047917698178E-4	0.012
18	61585344	C	G	18	63918110	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.047917698178E-4	0.012
18	61585344	C	T	18	63918110	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.44896841241902E-4	0.02
18	61587010	T	A	18	63919776	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0178276303668648	0.302
18	61587010	T	C	18	63919776	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00142784095257987	0.052
18	61587010	T	G	18	63919776	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.01260247424068	0.316
18	61587011	A	C	18	63919777	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.89171835944506E-6	0.0
18	61587011	A	G	18	63919777	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.79006486786601E-6	0.002
18	61587011	A	T	18	63919777	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.27219349862041E-5	0.084
18	61587012	T	A	18	63919778	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.99993476585961	0.988
18	61587012	T	C	18	63919778	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00181664949590991	0.14
18	61587012	T	G	18	63919778	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999946828759407	0.982
18	61587013	G	A	18	63919779	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.35444606672716E-5	0.01
18	61587013	G	C	18	63919779	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.17548604375745E-5	0.002
18	61587013	G	T	18	63919779	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.85589984454628E-5	0.0
18	61587014	T	A	18	63919780	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.243715415840878	0.488
18	61587014	T	C	18	63919780	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00124795005317396	0.054
18	61587014	T	G	18	63919780	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.161686751297375	0.48
18	61587015	C	A	18	63919781	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00313671281986218	0.052
18	61587015	C	G	18	63919781	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00415611349510429	0.054
18	61587015	C	T	18	63919781	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.64852672110303E-4	0.01
18	61587016	T	A	18	63919782	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.926918046348051	0.666
18	61587016	T	C	18	63919782	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.74265420305777E-4	0.088
18	61587016	T	G	18	63919782	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.976388728738481	0.722
18	61587017	T	A	18	63919783	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.984027742013555	0.848
18	61587017	T	C	18	63919783	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.363525364982947	0.246
18	61587017	T	G	18	63919783	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.982837489910403	0.768
18	61587018	T	A	18	63919784	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.23521352433196E-5	0.0
18	61587018	T	C	18	63919784	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.64428445518066E-5	0.04
18	61587018	T	G	18	63919784	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.54630993578604E-5	0.06
18	61587019	C	A	18	63919785	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.998437595455684	0.872
18	61587019	C	G	18	63919785	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999866889892662	0.964
18	61587019	C	T	18	63919785	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0545330841211003	0.11
18	61587020	A	C	18	63919786	y	y	splicing	SERPINB10(NM_005024:exon4:c.373-2A>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.373-2A>C)	.	.	0.999988247793601	0.9
18	61587020	A	G	18	63919786	y	y	splicing	SERPINB10(NM_005024:exon4:c.373-2A>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.373-2A>G)	.	.	0.999988247793601	0.902
18	61587020	A	T	18	63919786	y	y	splicing	SERPINB10(NM_005024:exon4:c.373-2A>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.373-2A>T)	.	.	0.999988247793601	0.906
18	61587021	G	A	18	63919787	y	y	splicing	SERPINB10(NM_005024:exon4:c.373-1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.373-1G>A)	.	.	0.999985532734767	0.92
18	61587021	G	C	18	63919787	y	y	splicing	SERPINB10(NM_005024:exon4:c.373-1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.373-1G>C)	.	.	0.999985532734767	0.874
18	61587021	G	T	18	63919787	y	y	splicing	SERPINB10(NM_005024:exon4:c.373-1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.373-1G>T)	.	.	0.999985532734767	0.92
18	61587022	A	C	18	63919788	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.A373C:p.K125Q;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.A373C:p.K125Q;	0.398538627924821	0.498
18	61587022	A	G	18	63919788	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.A373G:p.K125E;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.A373G:p.K125E;	2.94726890861666E-4	0.044
18	61587022	A	T	18	63919788	y	y	exonic	SERPINB10	stopgain SNV	SERPINB10:NM_005024:exon4:c.A373T:p.K125X;	exonic	ENSG00000242550	stopgain SNV	ENSG00000242550:ENST00000238508:exon5:c.A373T:p.K125X;	0.568137714402839	0.57
18	61587023	A	C	18	63919789	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.A374C:p.K125T;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.A374C:p.K125T;	0.0156936285964518	0.126
18	61587023	A	G	18	63919789	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.A374G:p.K125R;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.A374G:p.K125R;	0.846791581743692	0.714
18	61587023	A	T	18	63919789	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.A374T:p.K125I;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.A374T:p.K125I;	0.846550219122808	0.688
18	61587137	A	C	18	63919903	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.A488C:p.E163A;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.A488C:p.E163A;	1.52240386394037E-4	0.004
18	61587137	A	G	18	63919903	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.A488G:p.E163G;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.A488G:p.E163G;	0.00276733647372445	0.048
18	61587137	A	T	18	63919903	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.A488T:p.E163V;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.A488T:p.E163V;	0.322473746258181	0.384
18	61587138	G	A	18	63919904	y	y	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon4:c.G489A:p.E163E;	exonic	ENSG00000242550	synonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.G489A:p.E163E;	1.30236159882625E-4	0.078
18	61587138	G	C	18	63919904	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.G489C:p.E163D;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.G489C:p.E163D;	8.81152846165404E-5	0.002
18	61587138	G	T	18	63919904	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.G489T:p.E163D;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.G489T:p.E163D;	1.56379447177187E-4	0.01
18	61587139	G	A	18	63919905	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.G490A:p.G164S;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.G490A:p.G164S;	0.999957180389832	0.978
18	61587139	G	C	18	63919905	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.G490C:p.G164R;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.G490C:p.G164R;	0.999992160485037	0.994
18	61587139	G	T	18	63919905	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.G490T:p.G164C;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon5:c.G490T:p.G164C;	0.999986309930144	1.0
18	61587140	G	A	18	63919906	y	y	splicing	SERPINB10(NM_005024:exon4:c.490+1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.490+1G>A)	.	.	0.999981760802075	0.942
18	61587140	G	C	18	63919906	y	y	splicing	SERPINB10(NM_005024:exon4:c.490+1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.490+1G>C)	.	.	0.999981760802075	0.944
18	61587140	G	T	18	63919906	y	y	splicing	SERPINB10(NM_005024:exon4:c.490+1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.490+1G>T)	.	.	0.999981760802075	0.94
18	61587141	T	A	18	63919907	y	y	splicing	SERPINB10(NM_005024:exon4:c.490+2T>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.490+2T>A)	.	.	0.999989917668626	0.914
18	61587141	T	C	18	63919907	y	y	splicing	SERPINB10(NM_005024:exon4:c.490+2T>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.490+2T>C)	.	.	0.999927265809569	0.902
18	61587141	T	G	18	63919907	y	y	splicing	SERPINB10(NM_005024:exon4:c.490+2T>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon5:c.490+2T>G)	.	.	0.999989917668626	0.926
18	61587142	A	C	18	63919908	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.92985385411215	0.746
18	61587142	A	G	18	63919908	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00123381456236016	0.128
18	61587142	A	T	18	63919908	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.996557109378991	0.784
18	61587143	A	C	18	63919909	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.451394603048487	0.438
18	61587143	A	G	18	63919909	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.352909641051391	0.428
18	61587143	A	T	18	63919909	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.473536262738655	0.41
18	61587144	G	A	18	63919910	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999278351975253	0.848
18	61587144	G	C	18	63919910	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.99815589301072	0.86
18	61587144	G	T	18	63919910	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999743580492684	0.838
18	61587145	C	A	18	63919911	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.78233217316265E-5	0.026
18	61587145	C	G	18	63919911	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.69762387791275E-4	0.036
18	61587145	C	T	18	63919911	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.06302358017848E-5	0.012
18	61587146	T	A	18	63919912	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.32923864581256E-4	0.018
18	61587146	T	C	18	63919912	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.83562847043202E-4	0.018
18	61587146	T	G	18	63919912	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.83562847043202E-4	0.016
18	61587147	T	A	18	63919913	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.83562847043202E-4	0.022
18	61587147	T	C	18	63919913	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.94362363823074E-4	0.032
18	61587147	T	G	18	63919913	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.83562847043202E-4	0.03
18	61597267	T	A	18	63930033	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.18208770918132E-4	0.12
18	61597267	T	C	18	63930033	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.16139266085332E-4	0.008
18	61597267	T	G	18	63930033	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.31958515099812E-4	0.09
18	61597268	T	A	18	63930034	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.99587993785995	0.924
18	61597268	T	C	18	63930034	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.78005437733848E-5	0.004
18	61597268	T	G	18	63930034	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.69780757178658E-4	0.06
18	61597269	G	A	18	63930035	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.88233001939304E-4	0.018
18	61597269	G	C	18	63930035	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.43248108250962E-5	0.012
18	61597269	G	T	18	63930035	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.55298165833843E-5	0.008
18	61597270	T	A	18	63930036	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.8466403010258E-5	0.018
18	61597270	T	C	18	63930036	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.86297521980755E-5	0.0
18	61597270	T	G	18	63930036	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.46007309019729E-5	0.024
18	61597271	T	A	18	63930037	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.28861290915792E-4	0.046
18	61597271	T	C	18	63930037	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.38408987627746E-5	0.002
18	61597271	T	G	18	63930037	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.2368778638691E-4	0.036
18	61597272	C	A	18	63930038	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.6039587915902E-4	0.05
18	61597272	C	G	18	63930038	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	7.17982268105601E-5	0.016
18	61597272	C	T	18	63930038	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.48067146692248E-5	0.004
18	61597273	T	A	18	63930039	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.64718621133298E-4	0.03
18	61597273	T	C	18	63930039	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.11048232844599E-5	0.002
18	61597273	T	G	18	63930039	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00126551245535567	0.064
18	61597274	T	A	18	63930040	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.45872672096174E-4	0.104
18	61597274	T	C	18	63930040	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.19543052105567E-5	0.006
18	61597274	T	G	18	63930040	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.87369746822166E-4	0.082
18	61597275	A	C	18	63930041	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.6734063232817E-6	0.002
18	61597275	A	G	18	63930041	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	7.82152694110954E-6	0.0
18	61597275	A	T	18	63930041	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.68521132943951E-5	0.0
18	61597276	C	A	18	63930042	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0511708350937999	0.342
18	61597276	C	G	18	63930042	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.987451351248608	0.63
18	61597276	C	T	18	63930042	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.34394058027862E-4	0.002
18	61597277	A	C	18	63930043	y	y	splicing	SERPINB10(NM_005024:exon5:c.491-2A>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.491-2A>C)	.	.	0.999986607513753	0.916
18	61597277	A	G	18	63930043	y	y	splicing	SERPINB10(NM_005024:exon5:c.491-2A>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.491-2A>G)	.	.	0.999986607513753	0.916
18	61597277	A	T	18	63930043	y	y	splicing	SERPINB10(NM_005024:exon5:c.491-2A>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.491-2A>T)	.	.	0.999986607513753	0.916
18	61597278	G	A	18	63930044	y	y	splicing	SERPINB10(NM_005024:exon5:c.491-1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.491-1G>A)	.	.	0.999989263107695	0.934
18	61597278	G	C	18	63930044	y	y	splicing	SERPINB10(NM_005024:exon5:c.491-1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.491-1G>C)	.	.	0.999989263107695	0.934
18	61597278	G	T	18	63930044	y	y	splicing	SERPINB10(NM_005024:exon5:c.491-1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.491-1G>T)	.	.	0.999989263107695	0.934
18	61597279	G	A	18	63930045	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.G491A:p.G164D;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.G491A:p.G164D;	0.00636755949304324	0.154
18	61597279	G	C	18	63930045	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.G491C:p.G164A;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.G491C:p.G164A;	0.0959508517592343	0.492
18	61597279	G	T	18	63930045	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.G491T:p.G164V;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.G491T:p.G164V;	0.634772697913088	0.594
18	61597280	T	A	18	63930046	y	y	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon5:c.T492A:p.G164G;	exonic	ENSG00000242550	synonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.T492A:p.G164G;	4.40472389874181E-4	0.002
18	61597280	T	C	18	63930046	y	y	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon5:c.T492C:p.G164G;	exonic	ENSG00000242550	synonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.T492C:p.G164G;	3.95358764834447E-4	0.032
18	61597280	T	G	18	63930046	y	y	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon5:c.T492G:p.G164G;	exonic	ENSG00000242550	synonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.T492G:p.G164G;	3.95358764834447E-4	0.022
18	61597419	G	A	18	63930185	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.G631A:p.E211K;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.G631A:p.E211K;	6.58513233845406E-6	0.0
18	61597419	G	C	18	63930185	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.G631C:p.E211Q;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.G631C:p.E211Q;	1.1761945684509E-5	0.048
18	61597419	G	T	18	63930185	y	y	exonic	SERPINB10	stopgain SNV	SERPINB10:NM_005024:exon5:c.G631T:p.E211X;	exonic	ENSG00000242550	stopgain SNV	ENSG00000242550:ENST00000238508:exon6:c.G631T:p.E211X;	0.00183000611979891	0.05
18	61597420	A	C	18	63930186	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.A632C:p.E211A;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.A632C:p.E211A;	0.390960657840437	0.678
18	61597420	A	G	18	63930186	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.A632G:p.E211G;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.A632G:p.E211G;	0.997724316751894	0.776
18	61597420	A	T	18	63930186	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.A632T:p.E211V;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.A632T:p.E211V;	0.996662061833229	0.824
18	61597421	G	A	18	63930187	y	y	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon5:c.G633A:p.E211E;	exonic	ENSG00000242550	synonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.G633A:p.E211E;	0.999918774351971	0.988
18	61597421	G	C	18	63930187	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.G633C:p.E211D;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.G633C:p.E211D;	0.99999384302494	1.0
18	61597421	G	T	18	63930187	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon5:c.G633T:p.E211D;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon6:c.G633T:p.E211D;	0.999979051552581	0.996
18	61597422	G	A	18	63930188	y	y	splicing	SERPINB10(NM_005024:exon5:c.633+1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.633+1G>A)	.	.	0.99995545544995	0.932
18	61597422	G	C	18	63930188	y	y	splicing	SERPINB10(NM_005024:exon5:c.633+1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.633+1G>C)	.	.	0.99995545544995	0.936
18	61597422	G	T	18	63930188	y	y	splicing	SERPINB10(NM_005024:exon5:c.633+1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.633+1G>T)	.	.	0.99995545544995	0.934
18	61597423	T	A	18	63930189	y	y	splicing	SERPINB10(NM_005024:exon5:c.633+2T>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.633+2T>A)	.	.	0.99994568797423	0.932
18	61597423	T	C	18	63930189	y	y	splicing	SERPINB10(NM_005024:exon5:c.633+2T>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.633+2T>C)	.	.	0.952527091078767	0.712
18	61597423	T	G	18	63930189	y	y	splicing	SERPINB10(NM_005024:exon5:c.633+2T>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon6:c.633+2T>G)	.	.	0.99994568797423	0.942
18	61597424	A	C	18	63930190	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.994470784573843	0.84
18	61597424	A	G	18	63930190	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.810166622449338	0.454
18	61597424	A	T	18	63930190	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.989733315069821	0.828
18	61597425	G	A	18	63930191	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.38352015025351E-4	0.094
18	61597425	G	C	18	63930191	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.31049193779647E-4	0.024
18	61597425	G	T	18	63930191	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.31049193779647E-4	0.022
18	61597426	G	A	18	63930192	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.99965843496742	0.898
18	61597426	G	C	18	63930192	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999888724375355	0.9
18	61597426	G	T	18	63930192	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.999963650049749	0.922
18	61597427	A	C	18	63930193	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.65427759144214E-4	0.036
18	61597427	A	G	18	63930193	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.10574770526443E-5	0.004
18	61597427	A	T	18	63930193	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.01092197079246E-5	0.018
18	61597428	A	C	18	63930194	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.3519283322177E-6	0.0
18	61597428	A	G	18	63930194	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.46596526554591E-5	0.0
18	61597428	A	T	18	63930194	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.49349333464341E-5	0.0
18	61597429	A	C	18	63930195	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.77547636659262E-5	0.0
18	61597429	A	G	18	63930195	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.9455153944705E-5	0.0
18	61597429	A	T	18	63930195	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.09925514321579E-5	0.0
18	61600270	T	A	18	63933036	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.998208754395132	0.916
18	61600270	T	C	18	63933036	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.77865133244744E-5	0.002
18	61600270	T	G	18	63933036	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.88989919782069E-5	0.05
18	61600271	G	A	18	63933037	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.76178238344368E-5	0.006
18	61600271	G	C	18	63933037	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.87648770414777E-5	0.002
18	61600271	G	T	18	63933037	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.54414018105183E-5	0.024
18	61600272	T	A	18	63933038	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.542258279331E-4	0.036
18	61600272	T	C	18	63933038	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.6457484451081E-4	0.004
18	61600272	T	G	18	63933038	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.41590778503955E-4	0.048
18	61600273	T	A	18	63933039	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.92206468067602E-4	0.124
18	61600273	T	C	18	63933039	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.28393794867844E-4	0.034
18	61600273	T	G	18	63933039	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.12115056388326E-4	0.162
18	61600274	T	A	18	63933040	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.38348288665709E-4	0.026
18	61600274	T	C	18	63933040	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.63408376109549E-5	0.01
18	61600274	T	G	18	63933040	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.70592809668407E-4	0.058
18	61600275	T	A	18	63933041	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.63354764058208E-5	0.016
18	61600275	T	C	18	63933041	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	7.49155203669955E-5	0.002
18	61600275	T	G	18	63933041	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.82733671200924E-5	0.024
18	61600276	T	A	18	63933042	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	4.24910570987698E-4	0.088
18	61600276	T	C	18	63933042	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.36404493842875E-5	0.0
18	61600276	T	G	18	63933042	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	6.9004843946099E-4	0.066
18	61600277	T	A	18	63933043	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.75513132103872E-4	0.144
18	61600277	T	C	18	63933043	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.52232751645471E-5	0.004
18	61600277	T	G	18	63933043	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0029052601942006	0.174
18	61600278	T	A	18	63933044	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.34343778705383E-5	0.004
18	61600278	T	C	18	63933044	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.4300461455389E-5	0.006
18	61600278	T	G	18	63933044	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	8.8060894308021E-5	0.0
18	61600279	T	A	18	63933045	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00123299727735458	0.048
18	61600279	T	C	18	63933045	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	7.66668916836544E-5	0.008
18	61600279	T	G	18	63933045	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0574649526928195	0.36
18	61600280	A	C	18	63933046	y	y	splicing	SERPINB10(NM_005024:exon6:c.634-2A>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.634-2A>C)	.	.	0.999955107838025	0.922
18	61600280	A	G	18	63933046	y	y	splicing	SERPINB10(NM_005024:exon6:c.634-2A>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.634-2A>G)	.	.	0.999955107838025	0.922
18	61600280	A	T	18	63933046	y	y	splicing	SERPINB10(NM_005024:exon6:c.634-2A>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.634-2A>T)	.	.	0.999955107838025	0.92
18	61600281	G	A	18	63933047	y	y	splicing	SERPINB10(NM_005024:exon6:c.634-1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.634-1G>A)	.	.	0.999990361384395	0.89
18	61600281	G	C	18	63933047	y	y	splicing	SERPINB10(NM_005024:exon6:c.634-1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.634-1G>C)	.	.	0.999990361384395	0.938
18	61600281	G	T	18	63933047	y	y	splicing	SERPINB10(NM_005024:exon6:c.634-1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.634-1G>T)	.	.	0.999990361384395	0.938
18	61600282	A	C	18	63933048	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.A634C:p.T212P;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.A634C:p.T212P;	0.00469674483492313	0.112
18	61600282	A	G	18	63933048	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.A634G:p.T212A;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.A634G:p.T212A;	1.95860889002439E-4	0.006
18	61600282	A	T	18	63933048	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.A634T:p.T212S;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.A634T:p.T212S;	5.3494955130291E-4	0.038
18	61600283	C	A	18	63933049	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.C635A:p.T212N;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.C635A:p.T212N;	3.03711865691684E-5	0.0
18	61600283	C	G	18	63933049	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.C635G:p.T212S;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.C635G:p.T212S;	4.66934888122787E-5	0.016
18	61600283	C	T	18	63933049	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.C635T:p.T212I;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.C635T:p.T212I;	7.46883371883313E-5	0.004
18	61600435	C	A	18	63933201	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.C787A:p.Q263K;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.C787A:p.Q263K;	1.35073293754448E-4	0.074
18	61600435	C	G	18	63933201	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.C787G:p.Q263E;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.C787G:p.Q263E;	9.40666505766842E-5	0.066
18	61600435	C	T	18	63933201	y	y	exonic	SERPINB10	stopgain SNV	SERPINB10:NM_005024:exon6:c.C787T:p.Q263X;	exonic	ENSG00000242550	stopgain SNV	ENSG00000242550:ENST00000238508:exon7:c.C787T:p.Q263X;	0.92651323865615	0.714
18	61600436	A	C	18	63933202	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.A788C:p.Q263P;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.A788C:p.Q263P;	0.979755562142869	0.852
18	61600436	A	G	18	63933202	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.A788G:p.Q263R;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.A788G:p.Q263R;	0.876217319356907	0.624
18	61600436	A	T	18	63933202	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.A788T:p.Q263L;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.A788T:p.Q263L;	0.851463691548825	0.654
18	61600437	G	A	18	63933203	y	y	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon6:c.G789A:p.Q263Q;	exonic	ENSG00000242550	synonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.G789A:p.Q263Q;	0.999820949721631	0.94
18	61600437	G	C	18	63933203	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.G789C:p.Q263H;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.G789C:p.Q263H;	0.999990090977835	0.988
18	61600437	G	T	18	63933203	y	y	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon6:c.G789T:p.Q263H;	exonic	ENSG00000242550	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon7:c.G789T:p.Q263H;	0.999917275643022	0.99
18	61600438	G	A	18	63933204	y	y	splicing	SERPINB10(NM_005024:exon6:c.789+1G>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.789+1G>A)	.	.	0.99997712312721	0.872
18	61600438	G	C	18	63933204	y	y	splicing	SERPINB10(NM_005024:exon6:c.789+1G>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.789+1G>C)	.	.	0.999974741255854	0.844
18	61600438	G	T	18	63933204	y	y	splicing	SERPINB10(NM_005024:exon6:c.789+1G>T)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.789+1G>T)	.	.	0.999974741255854	0.864
18	61600439	T	A	18	63933205	y	y	splicing	SERPINB10(NM_005024:exon6:c.789+2T>A)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.789+2T>A)	.	.	0.999946188727699	0.938
18	61600439	T	C	18	63933205	y	y	splicing	SERPINB10(NM_005024:exon6:c.789+2T>C)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.789+2T>C)	.	.	0.979932260224936	0.678
18	61600439	T	G	18	63933205	y	y	splicing	SERPINB10(NM_005024:exon6:c.789+2T>G)	.	.	splicing	ENSG00000242550(ENST00000238508:exon7:c.789+2T>G)	.	.	0.999964896440643	0.936
18	61600440	A	C	18	63933206	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.990731550196152	0.65
18	61600440	A	G	18	63933206	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.0799551565006624	0.438
18	61600440	A	T	18	63933206	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.982475210115303	0.636
18	61600441	A	C	18	63933207	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.100387872405364	0.37
18	61600441	A	G	18	63933207	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.148131201506405	0.404
18	61600441	A	T	18	63933207	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.15833249854688	0.39
18	61600442	A	C	18	63933208	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.73853281576428E-5	0.028
18	61600442	A	G	18	63933208	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.36587477297531E-5	0.066
18	61600442	A	T	18	63933208	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.62303899352948E-5	0.004
18	61600443	T	A	18	63933209	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.76442939533019E-4	0.202
18	61600443	T	C	18	63933209	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	0.00132242241869243	0.28
18	61600443	T	G	18	63933209	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	5.43058825600604E-5	0.184
18	61600444	A	C	18	63933210	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	3.87544548170259E-5	0.002
18	61600444	A	G	18	63933210	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	9.07465301650683E-5	0.012
18	61600444	A	T	18	63933210	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.26764573512402E-4	0.002
18	61600445	A	C	18	63933211	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	1.17486155721189E-5	0.0
18	61600445	A	G	18	63933211	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.50896685644909E-5	0.0
18	61600445	A	T	18	63933211	y	y	intronic	SERPINB10	.	.	intronic	ENSG00000242550	.	.	2.15020457490687E-5	0.002
18	61602060	C	A	18	63934826	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.G75T:p.W25C;	5.87918925824627E-4	0.11
18	61602060	C	G	18	63934826	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.G75C:p.W25C;	4.84558894223768E-4	0.138
18	61602060	C	T	18	63934826	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	stopgain SNV	ENSG00000268706:ENST00000599868:exon2:c.G75A:p.W25X;	1.05692579216722E-5	0.018
18	61602061	C	A	18	63934827	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.G74T:p.W25L;	1.93019691666649E-4	0.098
18	61602061	C	G	18	63934827	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.G74C:p.W25S;	2.6669044051142E-4	0.104
18	61602061	C	T	18	63934827	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	stopgain SNV	ENSG00000268706:ENST00000599868:exon2:c.G74A:p.W25X;	3.22645832818164E-5	0.086
18	61602062	A	C	18	63934828	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T73G:p.W25G;	1.88214953168694E-5	0.044
18	61602062	A	G	18	63934828	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T73C:p.W25R;	2.98008431157551E-5	0.068
18	61602062	A	T	18	63934828	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T73A:p.W25R;	2.26664038780995E-5	0.064
18	61602063	A	C	18	63934829	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T72G:p.I24M;	2.26664038780995E-5	0.068
18	61602063	A	G	18	63934829	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T72C:p.I24I;	0.998501297223769	0.964
18	61602063	A	T	18	63934829	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T72A:p.I24I;	2.26664038780995E-5	0.092
18	61602064	A	C	18	63934830	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T71G:p.I24S;	2.74288479620664E-5	0.024
18	61602064	A	G	18	63934830	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T71C:p.I24T;	0.913270199606842	0.528
18	61602064	A	T	18	63934830	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T71A:p.I24N;	1.88354807853179E-5	0.036
18	61602065	T	A	18	63934831	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.A70T:p.I24F;	0.967661501967186	0.674
18	61602065	T	C	18	63934831	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.A70G:p.I24V;	8.59404321841411E-6	0.01
18	61602065	T	G	18	63934831	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.A70C:p.I24L;	0.967661501967186	0.676
18	61602066	G	A	18	63934832	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C69T:p.P23P;	0.753242396234672	0.52
18	61602066	G	C	18	63934832	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C69G:p.P23P;	1.48820959954888E-5	0.052
18	61602066	G	T	18	63934832	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C69A:p.P23P;	1.05692579216722E-5	0.02
18	61602067	G	A	18	63934833	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C68T:p.P23L;	0.828683287646043	0.694
18	61602067	G	C	18	63934833	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C68G:p.P23R;	4.12596618417891E-5	0.02
18	61602067	G	T	18	63934833	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C68A:p.P23H;	5.80951437752345E-5	0.034
18	61602068	G	A	18	63934834	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C67T:p.P23S;	3.93350885852562E-5	0.058
18	61602068	G	C	18	63934834	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C67G:p.P23A;	5.62012588018053E-4	0.302
18	61602068	G	T	18	63934834	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C67A:p.P23T;	0.00272052205883083	0.244
18	61602069	C	A	18	63934835	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.G66T:p.L22L;	0.997074570927919	0.688
18	61602069	C	G	18	63934835	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.G66C:p.L22L;	0.997242331890983	0.72
18	61602069	C	T	18	63934835	y	n	intronic	SERPINB10	.	.	exonic	ENSG00000268706	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.G66A:p.L22L;	0.313998986448726	0.458
18	61602070	A	C	18	63934836	y	n	splicing	SERPINB10(NM_005024:exon7:c.790-2A>C)	.	.	exonic;splicing	ENSG00000268706;ENSG00000242550(ENST00000238508:exon8:c.790-2A>C)	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T65G:p.L22R;	0.999894694995191	0.842
18	61602070	A	G	18	63934836	y	n	splicing	SERPINB10(NM_005024:exon7:c.790-2A>G)	.	.	exonic;splicing	ENSG00000268706;ENSG00000242550(ENST00000238508:exon8:c.790-2A>G)	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T65C:p.L22P;	0.999894694995191	0.842
18	61602070	A	T	18	63934836	y	n	splicing	SERPINB10(NM_005024:exon7:c.790-2A>T)	.	.	exonic;splicing	ENSG00000268706;ENSG00000242550(ENST00000238508:exon8:c.790-2A>T)	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.T65A:p.L22Q;	0.999866628302876	0.864
18	61602071	G	A	18	63934837	y	n	splicing	SERPINB10(NM_005024:exon7:c.790-1G>A)	.	.	exonic;splicing	ENSG00000268706;ENSG00000242550(ENST00000238508:exon8:c.790-1G>A)	synonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C64T:p.L22L;	0.999833094168102	0.82
18	61602071	G	C	18	63934837	y	n	splicing	SERPINB10(NM_005024:exon7:c.790-1G>C)	.	.	exonic;splicing	ENSG00000268706;ENSG00000242550(ENST00000238508:exon8:c.790-1G>C)	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C64G:p.L22V;	0.999835575067505	0.81
18	61602071	G	T	18	63934837	y	n	splicing	SERPINB10(NM_005024:exon7:c.790-1G>T)	.	.	exonic;splicing	ENSG00000268706;ENSG00000242550(ENST00000238508:exon8:c.790-1G>T)	nonsynonymous SNV	ENSG00000268706:ENST00000599868:exon2:c.C64A:p.L22M;	0.999833094168102	0.814
18	61602072	C	A	18	63934838	y	n	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon7:c.C790A:p.L264M;	exonic	ENSG00000242550;ENSG00000268706	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon8:c.C790A:p.L264M;ENSG00000268706:ENST00000599868:exon2:c.G63T:p.Q21H;	1.22708046722739E-4	0.036
18	61602072	C	G	18	63934838	y	n	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon7:c.C790G:p.L264V;	exonic	ENSG00000242550;ENSG00000268706	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon8:c.C790G:p.L264V;ENSG00000268706:ENST00000599868:exon2:c.G63C:p.Q21H;	5.86018530904417E-5	0.108
18	61602072	C	T	18	63934838	y	n	exonic	SERPINB10	synonymous SNV	SERPINB10:NM_005024:exon7:c.C790T:p.L264L;	exonic	ENSG00000242550;ENSG00000268706	synonymous SNV	ENSG00000242550:ENST00000238508:exon8:c.C790T:p.L264L;ENSG00000268706:ENST00000599868:exon2:c.G63A:p.Q21Q;	2.81757557116513E-5	0.092
18	61602073	T	A	18	63934839	y	n	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon7:c.T791A:p.L264Q;	exonic	ENSG00000242550;ENSG00000268706	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon8:c.T791A:p.L264Q;ENSG00000268706:ENST00000599868:exon2:c.A62T:p.Q21L;	0.0215500934403955	0.22
18	61602073	T	C	18	63934839	y	n	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon7:c.T791C:p.L264P;	exonic	ENSG00000242550;ENSG00000268706	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon8:c.T791C:p.L264P;ENSG00000268706:ENST00000599868:exon2:c.A62G:p.Q21R;	0.0118969442328107	0.124
18	61602073	T	G	18	63934839	y	n	exonic	SERPINB10	nonsynonymous SNV	SERPINB10:NM_005024:exon7:c.T791G:p.L264R;	exonic	ENSG00000242550;ENSG00000268706	nonsynonymous SNV	ENSG00000242550:ENST00000238508:exon8:c.T791G:p.L264R;ENSG00000268706:ENST00000599868:exon2:c.A62C:p.Q21P;	0.00420293560459887	0.12
18	61616632	G	A	18	63949398	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	1.31770189317291E-4	0.006
18	61616632	G	C	18	63949398	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	5.84761594154996E-5	0.008
18	61616632	G	T	18	63949398	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	5.99560301539309E-5	0.008
18	61616633	G	A	18	63949399	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	0.00128401551369844	0.184
18	61616633	G	C	18	63949399	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	1.40273125103449E-4	0.034
18	61616633	G	T	18	63949399	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	6.31129442165614E-4	0.118
18	61616634	G	A	18	63949400	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	0.999639227838139	0.958
18	61616634	G	C	18	63949400	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	0.999858594116852	0.908
18	61616634	G	T	18	63949400	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	0.999638516465558	0.978
18	61616635	G	A	18	63949401	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999922922441859	0.728
18	61616635	G	C	18	63949401	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999922922441859	0.728
18	61616635	G	T	18	63949401	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999922922441859	0.728
18	61616636	T	A	18	63949402	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999968624618023	0.736
18	61616636	T	C	18	63949402	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.937024035927603	0.528
18	61616636	T	G	18	63949402	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999968624618023	0.73
18	61616637	A	C	18	63949403	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999861784378284	0.91
18	61616637	A	G	18	63949403	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.929586136592744	0.632
18	61616637	A	T	18	63949403	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999845103301212	0.912
18	61616638	G	A	18	63949404	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00235021163412637	0.206
18	61616638	G	C	18	63949404	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.93341398398187E-4	0.058
18	61616638	G	T	18	63949404	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	3.21523001828637E-4	0.036
18	61616639	G	A	18	63949405	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999984193783002	0.89
18	61616639	G	C	18	63949405	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999986407715674	0.896
18	61616639	G	T	18	63949405	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999974192120932	0.878
18	61616640	T	A	18	63949406	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.120225062327252	0.288
18	61616640	T	C	18	63949406	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00589676814241163	0.158
18	61616640	T	G	18	63949406	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.0260652537919794	0.49
18	61616641	G	A	18	63949407	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.24362595471991E-4	0.006
18	61616641	G	C	18	63949407	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.39719602079324E-4	0.0
18	61616641	G	T	18	63949407	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.28778550705045E-4	0.02
18	61616642	T	A	18	63949408	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.68350886674968E-4	0.006
18	61616642	T	C	18	63949408	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	3.54676620579499E-4	0.002
18	61616642	T	G	18	63949408	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00125540331578161	0.038
18	61620576	C	A	18	63953342	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00173380426910714	0.028
18	61620576	C	G	18	63953342	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	4.03944864280955E-4	0.058
18	61620576	C	T	18	63953342	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.12121504174893E-4	0.0
18	61620577	C	A	18	63953343	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.24821241595366E-4	0.074
18	61620577	C	G	18	63953343	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.6298366297155E-4	0.048
18	61620577	C	T	18	63953343	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.65592336282564E-5	0.0
18	61620578	A	C	18	63953344	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	9.09830833436676E-6	0.01
18	61620578	A	G	18	63953344	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	8.91512476556668E-6	0.01
18	61620578	A	T	18	63953344	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.76294831486095E-5	0.054
18	61620579	T	A	18	63953345	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.105535987736008	0.398
18	61620579	T	C	18	63953345	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00214567760019999	0.024
18	61620579	T	G	18	63953345	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999911757024585	0.976
18	61620580	T	A	18	63953346	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999921003278888	0.986
18	61620580	T	C	18	63953346	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.16544570075201E-5	0.008
18	61620580	T	G	18	63953346	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00174086801577556	0.156
18	61620581	G	A	18	63953347	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	5.62546181234065E-5	0.008
18	61620581	G	C	18	63953347	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.98960947463071E-5	0.002
18	61620581	G	T	18	63953347	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.98960947463071E-5	0.008
18	61620582	T	A	18	63953348	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.790650913487436	0.542
18	61620582	T	C	18	63953348	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	9.72726598968449E-4	0.084
18	61620582	T	G	18	63953348	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.954107254625256	0.672
18	61620583	T	A	18	63953349	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.962724706373752	0.492
18	61620583	T	C	18	63953349	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.011936615762696	0.14
18	61620583	T	G	18	63953349	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.983144821104398	0.534
18	61620584	T	A	18	63953350	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	5.91221269980161E-5	0.012
18	61620584	T	C	18	63953350	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	8.27313572912548E-5	0.076
18	61620584	T	G	18	63953350	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.35961082285758E-4	0.122
18	61620585	C	A	18	63953351	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.95963365965452	0.786
18	61620585	C	G	18	63953351	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999912806295789	0.894
18	61620585	C	T	18	63953351	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00831762347582014	0.132
18	61620586	A	C	18	63953352	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999971749625584	0.748
18	61620586	A	G	18	63953352	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999971749625584	0.752
18	61620586	A	T	18	63953352	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999971749625584	0.788
18	61620587	G	A	18	63953353	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999894304674804	0.756
18	61620587	G	C	18	63953353	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999912916957367	0.756
18	61620587	G	T	18	63953353	y	y	splicing	HMSD	.	.	splicing	ENSG00000221887	.	.	0.999912916957367	0.758
18	61620588	G	A	18	63953354	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	3.98995225411638E-4	0.07
18	61620588	G	C	18	63953354	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	9.20012984364265E-4	0.178
18	61620588	G	T	18	63953354	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	0.00936972522722246	0.264
18	61620589	C	A	18	63953355	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	4.0540132559969E-5	0.002
18	61620589	C	G	18	63953355	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	7.66602122352025E-6	0.002
18	61620589	C	T	18	63953355	y	y	UTR5	HMSD	.	.	UTR5	ENSG00000221887	.	.	7.80060975648285E-6	0.0
18	61620759	C	A	18	63953525	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon2:c.C70A:p.Q24K;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon2:c.C70A:p.Q24K;	5.69323581243669E-5	0.01
18	61620759	C	G	18	63953525	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon2:c.C70G:p.Q24E;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon2:c.C70G:p.Q24E;	4.66318633598157E-4	0.02
18	61620759	C	T	18	63953525	y	y	exonic	HMSD	stopgain SNV	HMSD:NM_001123366:exon2:c.C70T:p.Q24X;	exonic	ENSG00000221887	stopgain SNV	ENSG00000221887:ENST00000408945:exon2:c.C70T:p.Q24X;	0.106591202690379	0.33
18	61620760	A	C	18	63953526	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon2:c.A71C:p.Q24P;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon2:c.A71C:p.Q24P;	0.542071689061641	0.642
18	61620760	A	G	18	63953526	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon2:c.A71G:p.Q24R;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon2:c.A71G:p.Q24R;	0.489524790492797	0.444
18	61620760	A	T	18	63953526	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon2:c.A71T:p.Q24L;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon2:c.A71T:p.Q24L;	0.791066506932303	0.604
18	61620761	G	A	18	63953527	y	y	exonic	HMSD	synonymous SNV	HMSD:NM_001123366:exon2:c.G72A:p.Q24Q;	exonic	ENSG00000221887	synonymous SNV	ENSG00000221887:ENST00000408945:exon2:c.G72A:p.Q24Q;	0.858600838494206	0.604
18	61620761	G	C	18	63953527	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon2:c.G72C:p.Q24H;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon2:c.G72C:p.Q24H;	0.996810132624064	0.668
18	61620761	G	T	18	63953527	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon2:c.G72T:p.Q24H;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon2:c.G72T:p.Q24H;	0.993633574884664	0.728
18	61620762	G	A	18	63953528	y	y	splicing	HMSD(NM_001123366:exon2:c.72+1G>A)	.	.	splicing	ENSG00000221887(ENST00000408945:exon2:c.72+1G>A)	.	.	0.99996405191659	0.738
18	61620762	G	C	18	63953528	y	y	splicing	HMSD(NM_001123366:exon2:c.72+1G>C)	.	.	splicing	ENSG00000221887(ENST00000408945:exon2:c.72+1G>C)	.	.	0.999945590422375	0.762
18	61620762	G	T	18	63953528	y	y	splicing	HMSD(NM_001123366:exon2:c.72+1G>T)	.	.	splicing	ENSG00000221887(ENST00000408945:exon2:c.72+1G>T)	.	.	0.999971596609132	0.75
18	61620763	T	A	18	63953529	y	y	splicing	HMSD(NM_001123366:exon2:c.72+2T>A)	.	.	splicing	ENSG00000221887(ENST00000408945:exon2:c.72+2T>A)	.	.	0.99996405191659	0.752
18	61620763	T	C	18	63953529	y	y	splicing	HMSD(NM_001123366:exon2:c.72+2T>C)	.	.	splicing	ENSG00000221887(ENST00000408945:exon2:c.72+2T>C)	.	.	0.941654978054735	0.496
18	61620763	T	G	18	63953529	y	y	splicing	HMSD(NM_001123366:exon2:c.72+2T>G)	.	.	splicing	ENSG00000221887(ENST00000408945:exon2:c.72+2T>G)	.	.	0.999971596609132	0.768
18	61620764	A	C	18	63953530	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.984866836798816	0.706
18	61620764	A	G	18	63953530	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	7.62284189353063E-4	0.078
18	61620764	A	T	18	63953530	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.722361681620538	0.616
18	61620765	C	A	18	63953531	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.03510755713671E-5	0.018
18	61620765	C	G	18	63953531	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	3.17021347434832E-5	0.008
18	61620765	C	T	18	63953531	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	3.84340336390312E-5	0.002
18	61620766	G	A	18	63953532	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.0645812017459296	0.076
18	61620766	G	C	18	63953532	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.0539743012278033	0.21
18	61620766	G	T	18	63953532	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.0414749087747761	0.11
18	61620767	T	A	18	63953533	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	7.9346324319722E-4	0.2
18	61620767	T	C	18	63953533	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	8.09756595993418E-4	0.222
18	61620767	T	G	18	63953533	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	6.64392585742994E-5	0.154
18	61620768	A	C	18	63953534	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.46373640009374E-5	0.004
18	61620768	A	G	18	63953534	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.58365692689783E-5	0.004
18	61620768	A	T	18	63953534	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.58365692689783E-5	0.004
18	61620769	A	C	18	63953535	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.98449269220386E-5	0.0
18	61620769	A	G	18	63953535	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	3.6319484272667E-5	0.0
18	61620769	A	T	18	63953535	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.14131246368229E-5	0.0
18	61621630	T	A	18	63954396	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	7.78453803369418E-4	0.118
18	61621630	T	C	18	63954396	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.44253899278501E-5	0.0
18	61621630	T	G	18	63954396	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.731393198049402	0.87
18	61621631	T	A	18	63954397	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.403454501376177	0.494
18	61621631	T	C	18	63954397	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00278268960198753	0.118
18	61621631	T	G	18	63954397	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.522437796430501	0.486
18	61621632	T	A	18	63954398	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.0396243922705	0.352
18	61621632	T	C	18	63954398	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.52831495193905E-5	0.002
18	61621632	T	G	18	63954398	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00265856756068978	0.37
18	61621633	T	A	18	63954399	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.0017176398961742	0.218
18	61621633	T	C	18	63954399	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	9.13310529272171E-5	0.004
18	61621633	T	G	18	63954399	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00870270708868978	0.268
18	61621634	A	C	18	63954400	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	9.63065284904611E-6	0.002
18	61621634	A	G	18	63954400	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.47348756796826E-5	0.02
18	61621634	A	T	18	63954400	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	9.63065284904611E-6	0.0
18	61621635	T	A	18	63954401	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	3.09775145438567E-4	0.05
18	61621635	T	C	18	63954401	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	4.40254438733993E-5	0.0
18	61621635	T	G	18	63954401	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.946881920884131	0.93
18	61621636	T	A	18	63954402	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.209824574910529	0.294
18	61621636	T	C	18	63954402	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	4.35611699221842E-5	0.0
18	61621636	T	G	18	63954402	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.370967979282725	0.428
18	61621637	T	A	18	63954403	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.871855329228408	0.53
18	61621637	T	C	18	63954403	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00207513216842426	0.18
18	61621637	T	G	18	63954403	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.986050091807565	0.618
18	61621638	T	A	18	63954404	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	6.08814597797312E-5	0.002
18	61621638	T	C	18	63954404	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	5.80313195221093E-5	0.0
18	61621638	T	G	18	63954404	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	7.39917563809086E-5	0.002
18	61621639	C	A	18	63954405	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.210367524472695	0.506
18	61621639	C	G	18	63954405	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999221994464341	0.832
18	61621639	C	T	18	63954405	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.43759261582763E-4	0.004
18	61621640	A	C	18	63954406	y	y	splicing	HMSD(NM_001123366:exon3:c.73-2A>C)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.73-2A>C)	.	.	0.99996947969426	0.77
18	61621640	A	G	18	63954406	y	y	splicing	HMSD(NM_001123366:exon3:c.73-2A>G)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.73-2A>G)	.	.	0.99996947969426	0.77
18	61621640	A	T	18	63954406	y	y	splicing	HMSD(NM_001123366:exon3:c.73-2A>T)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.73-2A>T)	.	.	0.99996947969426	0.77
18	61621641	G	A	18	63954407	y	y	splicing	HMSD(NM_001123366:exon3:c.73-1G>A)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.73-1G>A)	.	.	0.999967935809485	0.764
18	61621641	G	C	18	63954407	y	y	splicing	HMSD(NM_001123366:exon3:c.73-1G>C)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.73-1G>C)	.	.	0.999967935809485	0.768
18	61621641	G	T	18	63954407	y	y	splicing	HMSD(NM_001123366:exon3:c.73-1G>T)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.73-1G>T)	.	.	0.999967935809485	0.764
18	61621642	G	A	18	63954408	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.G73A:p.A25T;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.G73A:p.A25T;	0.0135166703677072	0.244
18	61621642	G	C	18	63954408	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.G73C:p.A25P;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.G73C:p.A25P;	0.410407459494893	0.396
18	61621642	G	T	18	63954408	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.G73T:p.A25S;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.G73T:p.A25S;	0.590543286201557	0.52
18	61621643	C	A	18	63954409	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.C74A:p.A25E;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.C74A:p.A25E;	3.62005999449202E-5	0.0
18	61621643	C	G	18	63954409	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.C74G:p.A25G;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.C74G:p.A25G;	8.42563314803942E-5	0.01
18	61621643	C	T	18	63954409	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.C74T:p.A25V;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.C74T:p.A25V;	1.20568269880943E-5	0.014
18	61621789	A	C	18	63954555	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.A220C:p.T74P;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.A220C:p.T74P;	7.05639083970454E-6	0.03
18	61621789	A	G	18	63954555	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.A220G:p.T74A;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.A220G:p.T74A;	4.14872588034628E-5	0.002
18	61621789	A	T	18	63954555	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.A220T:p.T74S;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.A220T:p.T74S;	1.51615720994854E-4	0.062
18	61621790	C	A	18	63954556	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.C221A:p.T74K;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.C221A:p.T74K;ENSG00000221887:ENST00000526932:exon1:c.C118A:p.Q40K;	5.5568459246208E-4	0.17
18	61621790	C	G	18	63954556	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.C221G:p.T74R;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon3:c.C221G:p.T74R;ENSG00000221887:ENST00000526932:exon1:c.C118G:p.Q40E;	6.55456631357056E-4	0.116
18	61621790	C	T	18	63954556	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon3:c.C221T:p.T74I;	exonic	ENSG00000221887	stopgain SNV	ENSG00000221887:ENST00000526932:exon1:c.C118T:p.Q40X;	0.0115777998549141	0.282
18	61621791	A	C	18	63954557	y	y	exonic	HMSD	synonymous SNV	HMSD:NM_001123366:exon3:c.A222C:p.T74T;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000526932:exon1:c.A119C:p.Q40P;	3.72669511301398E-5	0.0
18	61621791	A	G	18	63954557	y	y	exonic	HMSD	synonymous SNV	HMSD:NM_001123366:exon3:c.A222G:p.T74T;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000526932:exon1:c.A119G:p.Q40R;	2.16434104839349E-5	0.028
18	61621791	A	T	18	63954557	y	y	exonic	HMSD	synonymous SNV	HMSD:NM_001123366:exon3:c.A222T:p.T74T;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000526932:exon1:c.A119T:p.Q40L;	3.06581241751491E-5	0.052
18	61621792	G	A	18	63954558	y	y	splicing	HMSD(NM_001123366:exon3:c.222+1G>A)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.222+1G>A;ENST00000526932:exon1:c.119+1G>A)	.	.	0.999940351765486	0.764
18	61621792	G	C	18	63954558	y	y	splicing	HMSD(NM_001123366:exon3:c.222+1G>C)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.222+1G>C;ENST00000526932:exon1:c.119+1G>C)	.	.	0.999940351765486	0.76
18	61621792	G	T	18	63954558	y	y	splicing	HMSD(NM_001123366:exon3:c.222+1G>T)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.222+1G>T;ENST00000526932:exon1:c.119+1G>T)	.	.	0.999940351765486	0.762
18	61621793	T	A	18	63954559	y	y	splicing	HMSD(NM_001123366:exon3:c.222+2T>A)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.222+2T>A;ENST00000526932:exon1:c.119+2T>A)	.	.	0.999976374996771	0.76
18	61621793	T	C	18	63954559	y	y	splicing	HMSD(NM_001123366:exon3:c.222+2T>C)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.222+2T>C;ENST00000526932:exon1:c.119+2T>C)	.	.	0.972095691169981	0.5
18	61621793	T	G	18	63954559	y	y	splicing	HMSD(NM_001123366:exon3:c.222+2T>G)	.	.	splicing	ENSG00000221887(ENST00000408945:exon3:c.222+2T>G;ENST00000526932:exon1:c.119+2T>G)	.	.	0.999980535492709	0.76
18	61621794	A	C	18	63954560	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999822950473689	0.902
18	61621794	A	G	18	63954560	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00499288121548379	0.194
18	61621794	A	T	18	63954560	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999738132737746	0.89
18	61621795	A	C	18	63954561	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.620572507079619	0.53
18	61621795	A	G	18	63954561	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.975986182388841	0.734
18	61621795	A	T	18	63954561	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.97912656294822	0.684
18	61621796	G	A	18	63954562	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999970367793008	0.978
18	61621796	G	C	18	63954562	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999984393521426	0.99
18	61621796	G	T	18	63954562	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.999984393521426	0.974
18	61621797	T	A	18	63954563	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.577575990679539	0.586
18	61621797	T	C	18	63954563	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.755010310649161	0.61
18	61621797	T	G	18	63954563	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.959794709445849	0.698
18	61621798	C	A	18	63954564	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	4.72747083903326E-5	0.0
18	61621798	C	G	18	63954564	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.38999122542281E-5	0.0
18	61621798	C	T	18	63954564	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.98449269220386E-5	0.0
18	61621799	A	C	18	63954565	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.81104709051921E-5	0.0
18	61621799	A	G	18	63954565	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.98449269220386E-5	0.0
18	61621799	A	T	18	63954565	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.81104709051921E-5	0.0
18	61627380	G	A	18	63960146	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.146223659446279	0.334
18	61627380	G	C	18	63960146	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	4.24238308573907E-6	0.016
18	61627380	G	T	18	63960146	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	7.56295655097972E-6	0.018
18	61627381	G	A	18	63960147	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.30881539429311E-5	0.002
18	61627381	G	C	18	63960147	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	5.22493652236982E-6	0.012
18	61627381	G	T	18	63960147	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	9.31456134712277E-6	0.022
18	61627382	T	A	18	63960148	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.12550962822912	0.366
18	61627382	T	C	18	63960148	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	5.85780810477378E-5	0.028
18	61627382	T	G	18	63960148	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.0112211502500517	0.32
18	61627383	T	A	18	63960149	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	6.59107298379522E-4	0.212
18	61627383	T	C	18	63960149	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.40467809879429E-5	0.004
18	61627383	T	G	18	63960149	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00139935209692978	0.218
18	61627384	T	A	18	63960150	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00344864448899349	0.224
18	61627384	T	C	18	63960150	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.05129150752839E-5	0.006
18	61627384	T	G	18	63960150	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	9.12031312306151E-5	0.172
18	61627385	T	A	18	63960151	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	8.58419483327022E-5	0.052
18	61627385	T	C	18	63960151	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.80211684380548E-5	0.002
18	61627385	T	G	18	63960151	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	8.13824378492213E-5	0.056
18	61627386	T	A	18	63960152	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.0018271078217191	0.316
18	61627386	T	C	18	63960152	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.48312164163332E-5	0.008
18	61627386	T	G	18	63960152	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00203201504697687	0.294
18	61627387	C	A	18	63960153	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	6.10378970720782E-5	0.088
18	61627387	C	G	18	63960153	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	3.01647056881066E-4	0.126
18	61627387	C	T	18	63960153	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.78052727591842E-4	0.002
18	61627388	C	A	18	63960154	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.67370551553881E-5	0.002
18	61627388	C	G	18	63960154	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	2.4718375065505E-5	0.002
18	61627388	C	T	18	63960154	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	1.8048671980287E-5	0.002
18	61627389	T	A	18	63960155	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.00864480945901502	0.136
18	61627389	T	C	18	63960155	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	3.2535415936493E-5	0.054
18	61627389	T	G	18	63960155	y	y	intronic	HMSD	.	.	intronic	ENSG00000221887	.	.	0.963767647626782	0.646
18	61627390	A	C	18	63960156	y	y	splicing	HMSD(NM_001123366:exon4:c.223-2A>C)	.	.	splicing	ENSG00000221887(ENST00000408945:exon4:c.223-2A>C;ENST00000526932:exon2:c.120-2A>C)	.	.	0.99996947969426	0.75
18	61627390	A	G	18	63960156	y	y	splicing	HMSD(NM_001123366:exon4:c.223-2A>G)	.	.	splicing	ENSG00000221887(ENST00000408945:exon4:c.223-2A>G;ENST00000526932:exon2:c.120-2A>G)	.	.	0.99996947969426	0.75
18	61627390	A	T	18	63960156	y	y	splicing	HMSD(NM_001123366:exon4:c.223-2A>T)	.	.	splicing	ENSG00000221887(ENST00000408945:exon4:c.223-2A>T;ENST00000526932:exon2:c.120-2A>T)	.	.	0.99996947969426	0.752
18	61627391	G	A	18	63960157	y	y	splicing	HMSD(NM_001123366:exon4:c.223-1G>A)	.	.	splicing	ENSG00000221887(ENST00000408945:exon4:c.223-1G>A;ENST00000526932:exon2:c.120-1G>A)	.	.	0.99996947969426	0.75
18	61627391	G	C	18	63960157	y	y	splicing	HMSD(NM_001123366:exon4:c.223-1G>C)	.	.	splicing	ENSG00000221887(ENST00000408945:exon4:c.223-1G>C;ENST00000526932:exon2:c.120-1G>C)	.	.	0.99996947969426	0.75
18	61627391	G	T	18	63960157	y	y	splicing	HMSD(NM_001123366:exon4:c.223-1G>T)	.	.	splicing	ENSG00000221887(ENST00000408945:exon4:c.223-1G>T;ENST00000526932:exon2:c.120-1G>T)	.	.	0.99996947969426	0.75
18	61627392	G	A	18	63960158	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon4:c.G223A:p.G75S;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon4:c.G223A:p.G75S;	1.08458207098058E-4	0.038
18	61627392	G	C	18	63960158	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon4:c.G223C:p.G75R;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon4:c.G223C:p.G75R;ENSG00000221887:ENST00000526932:exon2:c.G120C:p.Q40H;	0.00195241428765513	0.092
18	61627392	G	T	18	63960158	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon4:c.G223T:p.G75C;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon4:c.G223T:p.G75C;ENSG00000221887:ENST00000526932:exon2:c.G120T:p.Q40H;	0.0186081193866944	0.258
18	61627393	G	A	18	63960159	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon4:c.G224A:p.G75D;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon4:c.G224A:p.G75D;ENSG00000221887:ENST00000526932:exon2:c.G121A:p.V41I;	1.93586630682086E-5	0.0
18	61627393	G	C	18	63960159	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon4:c.G224C:p.G75A;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon4:c.G224C:p.G75A;ENSG00000221887:ENST00000526932:exon2:c.G121C:p.V41L;	1.3034009869626E-5	0.002
18	61627393	G	T	18	63960159	y	y	exonic	HMSD	nonsynonymous SNV	HMSD:NM_001123366:exon4:c.G224T:p.G75V;	exonic	ENSG00000221887	nonsynonymous SNV	ENSG00000221887:ENST00000408945:exon4:c.G224T:p.G75V;ENSG00000221887:ENST00000526932:exon2:c.G121T:p.V41F;	5.47087435919156E-6	0.0
18	61637402	G	A	18	63970168	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.01705569775952E-4	0.012
18	61637402	G	C	18	63970168	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.01705569775952E-4	0.046
18	61637402	G	T	18	63970168	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.00117636209775635	0.056
18	61637403	A	C	18	63970169	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.857073529623703	0.704
18	61637403	A	G	18	63970169	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.996903012932688	0.856
18	61637403	A	T	18	63970169	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.990631938527815	0.782
18	61637404	G	A	18	63970170	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.997791107549331	0.86
18	61637404	G	C	18	63970170	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.99924542272866	0.838
18	61637404	G	T	18	63970170	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.997900232008077	0.84
18	61637405	G	A	18	63970171	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.980254976499977	0.288
18	61637405	G	C	18	63970171	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.980254976499977	0.282
18	61637405	G	T	18	63970171	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.980254976499977	0.284
18	61637406	T	A	18	63970172	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.989198132196839	0.29
18	61637406	T	C	18	63970172	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.84585444901744	0.35
18	61637406	T	G	18	63970172	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.989198132196839	0.288
18	61637407	G	A	18	63970173	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.71574138281445E-5	0.074
18	61637407	G	C	18	63970173	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.0467197108498981	0.288
18	61637407	G	T	18	63970173	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.00661671918783167	0.216
18	61637408	G	A	18	63970174	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	5.14990576800496E-4	0.128
18	61637408	G	C	18	63970174	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.66039857180515E-4	0.228
18	61637408	G	T	18	63970174	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	4.64588979009486E-5	0.02
18	61637409	G	A	18	63970175	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.964408545221708	0.336
18	61637409	G	C	18	63970175	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.963750741468051	0.384
18	61637409	G	T	18	63970175	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.943727078880256	0.338
18	61637410	G	A	18	63970176	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.6531188376895E-5	0.006
18	61637410	G	C	18	63970176	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	6.19098229828043E-5	0.184
18	61637410	G	T	18	63970176	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	4.42951236021517E-5	0.0
18	61637411	G	A	18	63970177	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	5.32796097900965E-5	0.0
18	61637411	G	C	18	63970177	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.7949640413924E-5	0.0
18	61637411	G	T	18	63970177	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.58246670458848E-5	0.002
18	61637412	C	A	18	63970178	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.59080558944972E-4	0.034
18	61637412	C	G	18	63970178	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.07958162185435E-4	0.022
18	61637412	C	T	18	63970178	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.96207636567652E-4	0.028
18	61637419	C	A	18	63970185	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.43189514765741E-4	0.018
18	61637419	C	G	18	63970185	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.43189514765741E-4	0.018
18	61637419	C	T	18	63970185	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	4.4471649152377E-4	0.02
18	61637420	A	C	18	63970186	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	8.75764508142209E-5	0.036
18	61637420	A	G	18	63970186	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	8.75764508142209E-5	0.036
18	61637420	A	T	18	63970186	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	1.01902716903713E-4	0.036
18	61637421	G	A	18	63970187	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.51562533294451E-4	0.066
18	61637421	G	C	18	63970187	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	5.01730131523839E-4	0.076
18	61637421	G	T	18	63970187	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	2.69565370316887E-4	0.078
18	61637422	G	A	18	63970188	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	6.36567682305367E-5	0.002
18	61637422	G	C	18	63970188	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	3.75289494538373E-5	0.002
18	61637422	G	T	18	63970188	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	6.36567682305367E-5	0.004
18	61637423	T	A	18	63970189	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	4.54404724015672E-5	0.0
18	61637423	T	C	18	63970189	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	4.54404724015672E-5	0.0
18	61637423	T	G	18	63970189	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	4.54404724015672E-5	0.0
18	61637424	A	C	18	63970190	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.25211152755068E-5	0.0
18	61637424	A	G	18	63970190	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.25211152755068E-5	0.0
18	61637424	A	T	18	63970190	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.25211152755068E-5	0.0
18	61637425	C	A	18	63970191	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00148210635357804	0.016
18	61637425	C	G	18	63970191	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00128020437041737	0.014
18	61637425	C	T	18	63970191	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00175667792638089	0.024
18	61637426	C	A	18	63970192	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	9.27237026149931E-5	0.004
18	61637426	C	G	18	63970192	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	9.27237026149931E-5	0.004
18	61637426	C	T	18	63970192	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	9.27237026149931E-5	0.008
18	61637427	G	A	18	63970193	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.90066968634554E-5	0.002
18	61637427	G	C	18	63970193	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.1336373593913E-5	0.002
18	61637427	G	T	18	63970193	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.1336373593913E-5	0.002
18	61637428	G	A	18	63970194	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.30945796578933E-5	0.0
18	61637428	G	C	18	63970194	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.30945796578933E-5	0.0
18	61637428	G	T	18	63970194	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.30945796578933E-5	0.0
18	61637429	G	A	18	63970195	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.36567682305367E-5	0.002
18	61637429	G	C	18	63970195	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.75289494538373E-5	0.002
18	61637429	G	T	18	63970195	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.36567682305367E-5	0.002
18	61637678	C	A	18	63970444	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	7.27456659313109E-5	0.0
18	61637678	C	G	18	63970444	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	7.27456659313109E-5	0.0
18	61637678	C	T	18	63970444	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	7.5364181533214E-5	0.0
18	61637679	A	C	18	63970445	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.62847819371058E-5	0.0
18	61637679	A	G	18	63970445	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.62847819371058E-5	0.0
18	61637679	A	T	18	63970445	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.62847819371058E-5	0.002
18	61637680	G	A	18	63970446	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	7.52881759733747E-5	0.0
18	61637680	G	C	18	63970446	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	7.52881759733747E-5	0.0
18	61637680	G	T	18	63970446	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	7.52881759733747E-5	0.0
18	61637681	G	A	18	63970447	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	3.03359245426808E-5	0.034
18	61637681	G	C	18	63970447	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	3.03359245426808E-5	0.034
18	61637681	G	T	18	63970447	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	3.03359245426808E-5	0.034
18	61637682	T	A	18	63970448	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	1.14435144034714E-4	0.004
18	61637682	T	C	18	63970448	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	1.25690374419159E-4	0.104
18	61637682	T	G	18	63970448	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	8.9205579791821E-5	0.06
18	61637683	G	A	18	63970449	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.77993525610891E-5	0.002
18	61637683	G	C	18	63970449	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	9.06619588578661E-5	0.006
18	61637683	G	T	18	63970449	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	9.06619588578661E-5	0.028
18	61637684	C	A	18	63970450	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.52881759733747E-5	0.0
18	61637684	C	G	18	63970450	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.52881759733747E-5	0.0
18	61637684	C	T	18	63970450	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.52881759733747E-5	0.0
18	61637685	G	A	18	63970451	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.49702646665041E-5	0.006
18	61637685	G	C	18	63970451	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.49702646665041E-5	0.004
18	61637685	G	T	18	63970451	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.49702646665041E-5	0.004
18	61637686	C	A	18	63970452	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.19348260541807E-5	0.002
18	61637686	C	G	18	63970452	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.19348260541807E-5	0.002
18	61637686	C	T	18	63970452	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.19348260541807E-5	0.002
18	61637687	C	A	18	63970453	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.05567792764038E-5	0.002
18	61637687	C	G	18	63970453	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.05567792764038E-5	0.002
18	61637687	C	T	18	63970453	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.05567792764038E-5	0.0
18	61637688	C	A	18	63970454	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.00971350792199E-5	0.032
18	61637688	C	G	18	63970454	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.78929785447708E-5	0.032
18	61637688	C	T	18	63970454	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.00971350792199E-5	0.032
18	61637797	G	A	18	63970563	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	6.35428655471156E-5	0.004
18	61637797	G	C	18	63970563	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	8.49702646665041E-5	0.006
18	61637797	G	T	18	63970563	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	6.35428655471156E-5	0.014
18	61637798	C	A	18	63970564	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.15267776820636E-5	0.0
18	61637798	C	G	18	63970564	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.15267776820636E-5	0.0
18	61637798	C	T	18	63970564	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	3.15267776820636E-5	0.0
18	61637799	A	C	18	63970565	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	5.69439264402225E-5	0.002
18	61637799	A	G	18	63970565	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	5.69439264402225E-5	0.002
18	61637799	A	T	18	63970565	n	y	intronic	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	5.69439264402225E-5	0.0
18	61637800	G	A	18	63970566	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	1.10275622159801E-5	0.0
18	61637800	G	C	18	63970566	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	1.10275622159801E-5	0.0
18	61637800	G	T	18	63970566	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	1.10275622159801E-5	0.0
18	61637801	T	A	18	63970567	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	4.08802802279601E-5	0.004
18	61637801	T	C	18	63970567	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	3.78864525412067E-5	0.0
18	61637801	T	G	18	63970567	n	y	intronic	SERPINB8	.	.	splicing	ENSG00000166401	.	.	3.78864525412067E-5	0.0
18	61637802	G	A	18	63970568	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00131227968434435	0.008
18	61637802	G	C	18	63970568	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.81984393052081E-4	0.008
18	61637802	G	T	18	63970568	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00126717964757063	0.008
18	61637803	A	C	18	63970569	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.75274067003406E-5	0.0
18	61637803	A	G	18	63970569	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.75274067003406E-5	0.0
18	61637803	A	T	18	63970569	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.75274067003406E-5	0.0
18	61637804	G	A	18	63970570	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.59706358747764E-5	0.002
18	61637804	G	C	18	63970570	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.59706358747764E-5	0.0
18	61637804	G	T	18	63970570	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.59706358747764E-5	0.0
18	61637805	T	A	18	63970571	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.11173289983824E-5	0.076
18	61637805	T	C	18	63970571	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.11173289983824E-5	0.002
18	61637805	T	G	18	63970571	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.11173289983824E-5	0.002
18	61637806	T	A	18	63970572	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.45170072801036E-5	0.008
18	61637806	T	C	18	63970572	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.45170072801036E-5	0.008
18	61637806	T	G	18	63970572	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.45170072801036E-5	0.008
18	61637807	T	A	18	63970573	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.25762508039554E-5	0.0
18	61637807	T	C	18	63970573	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.25762508039554E-5	0.0
18	61637807	T	G	18	63970573	n	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.25762508039554E-5	0.0
18	61645521	C	A	18	63978287	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.2030781294283E-4	0.08
18	61645521	C	G	18	63978287	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.93300182250661E-4	0.054
18	61645521	C	T	18	63978287	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	9.1773724961696E-5	0.002
18	61645522	C	A	18	63978288	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.05820935387115E-4	0.112
18	61645522	C	G	18	63978288	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.5846533287882E-4	0.092
18	61645522	C	T	18	63978288	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.72589444286278E-5	0.028
18	61645523	T	A	18	63978289	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0901598691176781	0.6
18	61645523	T	C	18	63978289	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00358776001613187	0.1
18	61645523	T	G	18	63978289	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0643230799560517	0.586
18	61645524	T	A	18	63978290	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.242096038244992	0.58
18	61645524	T	C	18	63978290	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00269526683838479	0.082
18	61645524	T	G	18	63978290	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0377076460912038	0.504
18	61645525	T	A	18	63978291	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999953441328732	0.988
18	61645525	T	C	18	63978291	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.22637034574962E-5	0.016
18	61645525	T	G	18	63978291	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0017162243148954	0.132
18	61645526	G	A	18	63978292	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.13559409944548E-4	0.006
18	61645526	G	C	18	63978292	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.07695932195608E-4	0.0
18	61645526	G	T	18	63978292	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.08344544760443E-4	0.0
18	61645527	A	C	18	63978293	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.73220361912651E-5	0.006
18	61645527	A	G	18	63978293	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.99126078824243E-5	0.002
18	61645527	A	T	18	63978293	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.61249795474073E-5	0.018
18	61645528	T	A	18	63978294	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.981862644763595	0.708
18	61645528	T	C	18	63978294	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00193859647078475	0.044
18	61645528	T	G	18	63978294	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.995674465046498	0.782
18	61645529	G	A	18	63978295	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.93482675597994E-5	0.006
18	61645529	G	C	18	63978295	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.21343148410274E-5	0.0
18	61645529	G	T	18	63978295	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.73651348750239E-5	0.012
18	61645530	C	A	18	63978296	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.979981577328422	0.834
18	61645530	C	G	18	63978296	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.99956709680923	0.856
18	61645530	C	T	18	63978296	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00165447248637309	0.034
18	61645531	A	C	18	63978297	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.999982833853374	0.952
18	61645531	A	G	18	63978297	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.999982833853374	0.952
18	61645531	A	T	18	63978297	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.999973685260467	0.954
18	61645532	G	A	18	63978298	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.999968723061615	0.956
18	61645532	G	C	18	63978298	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.999968723061615	0.956
18	61645532	G	T	18	63978298	y	y	splicing	SERPINB8	.	.	splicing	ENSG00000166401	.	.	0.999968723061615	0.956
18	61645533	A	C	18	63978299	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.00274477113144792	0.162
18	61645533	A	G	18	63978299	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	4.70839953822778E-5	0.006
18	61645533	A	T	18	63978299	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	0.00223726699414349	0.178
18	61645534	C	A	18	63978300	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	9.53371443087623E-4	0.016
18	61645534	C	G	18	63978300	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	4.62144443263628E-4	0.052
18	61645534	C	T	18	63978300	y	y	UTR5	SERPINB8	.	.	UTR5	ENSG00000166401	.	.	7.21972391959935E-4	0.006
18	61645708	C	A	18	63978474	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon2:c.C166A:p.Q56K;SERPINB8:NM_002640:exon2:c.C166A:p.Q56K;SERPINB8:NM_198833:exon2:c.C166A:p.Q56K;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon2:c.C166A:p.Q56K;ENSG00000166401:ENST00000353706:exon2:c.C166A:p.Q56K;ENSG00000166401:ENST00000441827:exon2:c.C166A:p.Q56K;ENSG00000166401:ENST00000448851:exon2:c.C166A:p.Q56K;ENSG00000166401:ENST00000397985:exon2:c.C166A:p.Q56K;	3.6641759266483E-5	0.012
18	61645708	C	G	18	63978474	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon2:c.C166G:p.Q56E;SERPINB8:NM_002640:exon2:c.C166G:p.Q56E;SERPINB8:NM_198833:exon2:c.C166G:p.Q56E;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon2:c.C166G:p.Q56E;ENSG00000166401:ENST00000353706:exon2:c.C166G:p.Q56E;ENSG00000166401:ENST00000441827:exon2:c.C166G:p.Q56E;ENSG00000166401:ENST00000448851:exon2:c.C166G:p.Q56E;ENSG00000166401:ENST00000397985:exon2:c.C166G:p.Q56E;	2.75726291013061E-5	0.002
18	61645708	C	T	18	63978474	y	y	exonic	SERPINB8	stopgain SNV	SERPINB8:NM_001031848:exon2:c.C166T:p.Q56X;SERPINB8:NM_002640:exon2:c.C166T:p.Q56X;SERPINB8:NM_198833:exon2:c.C166T:p.Q56X;	exonic	ENSG00000166401	stopgain SNV	ENSG00000166401:ENST00000397988:exon2:c.C166T:p.Q56X;ENSG00000166401:ENST00000353706:exon2:c.C166T:p.Q56X;ENSG00000166401:ENST00000441827:exon2:c.C166T:p.Q56X;ENSG00000166401:ENST00000448851:exon2:c.C166T:p.Q56X;ENSG00000166401:ENST00000397985:exon2:c.C166T:p.Q56X;	0.0143197173512176	0.254
18	61645709	A	C	18	63978475	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon2:c.A167C:p.Q56P;SERPINB8:NM_002640:exon2:c.A167C:p.Q56P;SERPINB8:NM_198833:exon2:c.A167C:p.Q56P;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon2:c.A167C:p.Q56P;ENSG00000166401:ENST00000353706:exon2:c.A167C:p.Q56P;ENSG00000166401:ENST00000441827:exon2:c.A167C:p.Q56P;ENSG00000166401:ENST00000448851:exon2:c.A167C:p.Q56P;ENSG00000166401:ENST00000397985:exon2:c.A167C:p.Q56P;	0.994637605136287	0.956
18	61645709	A	G	18	63978475	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon2:c.A167G:p.Q56R;SERPINB8:NM_002640:exon2:c.A167G:p.Q56R;SERPINB8:NM_198833:exon2:c.A167G:p.Q56R;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon2:c.A167G:p.Q56R;ENSG00000166401:ENST00000353706:exon2:c.A167G:p.Q56R;ENSG00000166401:ENST00000441827:exon2:c.A167G:p.Q56R;ENSG00000166401:ENST00000448851:exon2:c.A167G:p.Q56R;ENSG00000166401:ENST00000397985:exon2:c.A167G:p.Q56R;	0.997960744940694	0.966
18	61645709	A	T	18	63978475	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon2:c.A167T:p.Q56L;SERPINB8:NM_002640:exon2:c.A167T:p.Q56L;SERPINB8:NM_198833:exon2:c.A167T:p.Q56L;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon2:c.A167T:p.Q56L;ENSG00000166401:ENST00000353706:exon2:c.A167T:p.Q56L;ENSG00000166401:ENST00000441827:exon2:c.A167T:p.Q56L;ENSG00000166401:ENST00000448851:exon2:c.A167T:p.Q56L;ENSG00000166401:ENST00000397985:exon2:c.A167T:p.Q56L;	0.999606255045787	0.984
18	61645710	G	A	18	63978476	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon2:c.G168A:p.Q56Q;SERPINB8:NM_002640:exon2:c.G168A:p.Q56Q;SERPINB8:NM_198833:exon2:c.G168A:p.Q56Q;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000397988:exon2:c.G168A:p.Q56Q;ENSG00000166401:ENST00000353706:exon2:c.G168A:p.Q56Q;ENSG00000166401:ENST00000441827:exon2:c.G168A:p.Q56Q;ENSG00000166401:ENST00000448851:exon2:c.G168A:p.Q56Q;ENSG00000166401:ENST00000397985:exon2:c.G168A:p.Q56Q;	0.976096629493583	0.748
18	61645710	G	C	18	63978476	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon2:c.G168C:p.Q56H;SERPINB8:NM_002640:exon2:c.G168C:p.Q56H;SERPINB8:NM_198833:exon2:c.G168C:p.Q56H;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon2:c.G168C:p.Q56H;ENSG00000166401:ENST00000353706:exon2:c.G168C:p.Q56H;ENSG00000166401:ENST00000441827:exon2:c.G168C:p.Q56H;ENSG00000166401:ENST00000448851:exon2:c.G168C:p.Q56H;ENSG00000166401:ENST00000397985:exon2:c.G168C:p.Q56H;	0.999980175278768	0.99
18	61645710	G	T	18	63978476	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon2:c.G168T:p.Q56H;SERPINB8:NM_002640:exon2:c.G168T:p.Q56H;SERPINB8:NM_198833:exon2:c.G168T:p.Q56H;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon2:c.G168T:p.Q56H;ENSG00000166401:ENST00000353706:exon2:c.G168T:p.Q56H;ENSG00000166401:ENST00000441827:exon2:c.G168T:p.Q56H;ENSG00000166401:ENST00000448851:exon2:c.G168T:p.Q56H;ENSG00000166401:ENST00000397985:exon2:c.G168T:p.Q56H;	0.999978392344493	0.998
18	61645711	G	A	18	63978477	y	y	splicing	SERPINB8(NM_002640:exon2:c.168+1G>A;NM_198833:exon2:c.168+1G>A;NM_001031848:exon2:c.168+1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon2:c.168+1G>A;ENST00000353706:exon2:c.168+1G>A;ENST00000397988:exon2:c.168+1G>A;ENST00000448851:exon2:c.168+1G>A;ENST00000441827:exon2:c.168+1G>A)	.	.	0.99993314117114	0.928
18	61645711	G	C	18	63978477	y	y	splicing	SERPINB8(NM_002640:exon2:c.168+1G>C;NM_198833:exon2:c.168+1G>C;NM_001031848:exon2:c.168+1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon2:c.168+1G>C;ENST00000353706:exon2:c.168+1G>C;ENST00000397988:exon2:c.168+1G>C;ENST00000448851:exon2:c.168+1G>C;ENST00000441827:exon2:c.168+1G>C)	.	.	0.99993314117114	0.932
18	61645711	G	T	18	63978477	y	y	splicing	SERPINB8(NM_002640:exon2:c.168+1G>T;NM_198833:exon2:c.168+1G>T;NM_001031848:exon2:c.168+1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon2:c.168+1G>T;ENST00000353706:exon2:c.168+1G>T;ENST00000397988:exon2:c.168+1G>T;ENST00000448851:exon2:c.168+1G>T;ENST00000441827:exon2:c.168+1G>T)	.	.	0.99993314117114	0.932
18	61645712	T	A	18	63978478	y	y	splicing	SERPINB8(NM_002640:exon2:c.168+2T>A;NM_198833:exon2:c.168+2T>A;NM_001031848:exon2:c.168+2T>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon2:c.168+2T>A;ENST00000353706:exon2:c.168+2T>A;ENST00000397988:exon2:c.168+2T>A;ENST00000448851:exon2:c.168+2T>A;ENST00000441827:exon2:c.168+2T>A)	.	.	0.99994568797423	0.93
18	61645712	T	C	18	63978478	y	y	splicing	SERPINB8(NM_002640:exon2:c.168+2T>C;NM_198833:exon2:c.168+2T>C;NM_001031848:exon2:c.168+2T>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon2:c.168+2T>C;ENST00000353706:exon2:c.168+2T>C;ENST00000397988:exon2:c.168+2T>C;ENST00000448851:exon2:c.168+2T>C;ENST00000441827:exon2:c.168+2T>C)	.	.	0.971267832766595	0.668
18	61645712	T	G	18	63978478	y	y	splicing	SERPINB8(NM_002640:exon2:c.168+2T>G;NM_198833:exon2:c.168+2T>G;NM_001031848:exon2:c.168+2T>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon2:c.168+2T>G;ENST00000353706:exon2:c.168+2T>G;ENST00000397988:exon2:c.168+2T>G;ENST00000448851:exon2:c.168+2T>G;ENST00000441827:exon2:c.168+2T>G)	.	.	0.99994568797423	0.94
18	61645713	A	C	18	63978479	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.828448661852975	0.602
18	61645713	A	G	18	63978479	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.176738546649447	0.508
18	61645713	A	T	18	63978479	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.805453234321923	0.544
18	61645714	T	A	18	63978480	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	9.79632049744047E-5	0.088
18	61645714	T	C	18	63978480	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.05434995568424E-4	0.006
18	61645714	T	G	18	63978480	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.36643960774134E-5	0.0
18	61645715	G	A	18	63978481	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.51560899322976	0.4
18	61645715	G	C	18	63978481	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.442221345877762	0.49
18	61645715	G	T	18	63978481	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.322353515529155	0.482
18	61645716	T	A	18	63978482	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00196722028450827	0.196
18	61645716	T	C	18	63978482	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0062747197901849	0.306
18	61645716	T	G	18	63978482	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.82556289367704E-4	0.18
18	61645717	G	A	18	63978483	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.02203293062935E-5	0.0
18	61645717	G	C	18	63978483	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.87394847400842E-5	0.0
18	61645717	G	T	18	63978483	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.73259284134898E-5	0.0
18	61645718	T	A	18	63978484	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.94472963965377E-5	0.0
18	61645718	T	C	18	63978484	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.35142352974628E-5	0.0
18	61645718	T	G	18	63978484	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.94472963965377E-5	0.0
18	61647023	T	A	18	63979789	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.04652237670961	0.364
18	61647023	T	C	18	63979789	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.91602287263375E-4	0.028
18	61647023	T	G	18	63979789	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0381435625399495	0.338
18	61647024	T	A	18	63979790	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.908252483342331	0.69
18	61647024	T	C	18	63979790	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0585288527406981	0.26
18	61647024	T	G	18	63979790	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.147945046879245	0.556
18	61647025	C	A	18	63979791	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00894338591790914	0.074
18	61647025	C	G	18	63979791	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00525208712034724	0.088
18	61647025	C	T	18	63979791	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.04924622625689E-4	0.01
18	61647026	T	A	18	63979792	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999925359714601	0.99
18	61647026	T	C	18	63979792	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.24788712786631E-4	0.092
18	61647026	T	G	18	63979792	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0430779989895189	0.522
18	61647027	G	A	18	63979793	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.32669867049243E-5	0.028
18	61647027	G	C	18	63979793	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.35869006648976E-5	0.002
18	61647027	G	T	18	63979793	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.9155086702121E-5	0.0
18	61647028	T	A	18	63979794	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.209790447727987	0.382
18	61647028	T	C	18	63979794	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.0249115331961E-4	0.03
18	61647028	T	G	18	63979794	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0731239355929278	0.308
18	61647029	T	A	18	63979795	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00211190604072108	0.08
18	61647029	T	C	18	63979795	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.66772217383736E-4	0.026
18	61647029	T	G	18	63979795	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00232547880499867	0.114
18	61647030	C	A	18	63979796	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.75021046103247E-4	0.038
18	61647030	C	G	18	63979796	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00412075013266032	0.068
18	61647030	C	T	18	63979796	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.86378758069668E-5	0.008
18	61647031	C	A	18	63979797	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.00265960585853E-5	0.0
18	61647031	C	G	18	63979797	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.00265960585853E-5	0.0
18	61647031	C	T	18	63979797	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.6658719838068E-5	0.0
18	61647032	C	A	18	63979798	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.534205882401288	0.556
18	61647032	C	G	18	63979798	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999713478296462	0.934
18	61647032	C	T	18	63979798	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00395517253525616	0.07
18	61647033	A	C	18	63979799	y	y	splicing	SERPINB8(NM_002640:exon3:c.169-2A>C;NM_198833:exon3:c.169-2A>C;NM_001031848:exon3:c.169-2A>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.169-2A>C;ENST00000353706:exon3:c.169-2A>C;ENST00000397988:exon3:c.169-2A>C;ENST00000448851:exon3:c.169-2A>C;ENST00000441827:exon3:c.169-2A>C)	.	.	0.999966203349492	0.944
18	61647033	A	G	18	63979799	y	y	splicing	SERPINB8(NM_002640:exon3:c.169-2A>G;NM_198833:exon3:c.169-2A>G;NM_001031848:exon3:c.169-2A>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.169-2A>G;ENST00000353706:exon3:c.169-2A>G;ENST00000397988:exon3:c.169-2A>G;ENST00000448851:exon3:c.169-2A>G;ENST00000441827:exon3:c.169-2A>G)	.	.	0.999966203349492	0.946
18	61647033	A	T	18	63979799	y	y	splicing	SERPINB8(NM_002640:exon3:c.169-2A>T;NM_198833:exon3:c.169-2A>T;NM_001031848:exon3:c.169-2A>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.169-2A>T;ENST00000353706:exon3:c.169-2A>T;ENST00000397988:exon3:c.169-2A>T;ENST00000448851:exon3:c.169-2A>T;ENST00000441827:exon3:c.169-2A>T)	.	.	0.999986903042585	0.944
18	61647034	G	A	18	63979800	y	y	splicing	SERPINB8(NM_002640:exon3:c.169-1G>A;NM_198833:exon3:c.169-1G>A;NM_001031848:exon3:c.169-1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.169-1G>A;ENST00000353706:exon3:c.169-1G>A;ENST00000397988:exon3:c.169-1G>A;ENST00000448851:exon3:c.169-1G>A;ENST00000441827:exon3:c.169-1G>A)	.	.	0.999938990645747	0.964
18	61647034	G	C	18	63979800	y	y	splicing	SERPINB8(NM_002640:exon3:c.169-1G>C;NM_198833:exon3:c.169-1G>C;NM_001031848:exon3:c.169-1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.169-1G>C;ENST00000353706:exon3:c.169-1G>C;ENST00000397988:exon3:c.169-1G>C;ENST00000448851:exon3:c.169-1G>C;ENST00000441827:exon3:c.169-1G>C)	.	.	0.999938990645747	0.962
18	61647034	G	T	18	63979800	y	y	splicing	SERPINB8(NM_002640:exon3:c.169-1G>T;NM_198833:exon3:c.169-1G>T;NM_001031848:exon3:c.169-1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.169-1G>T;ENST00000353706:exon3:c.169-1G>T;ENST00000397988:exon3:c.169-1G>T;ENST00000448851:exon3:c.169-1G>T;ENST00000441827:exon3:c.169-1G>T)	.	.	0.999938990645747	0.962
18	61647035	G	A	18	63979801	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.G169A:p.A57T;SERPINB8:NM_002640:exon3:c.G169A:p.A57T;SERPINB8:NM_198833:exon3:c.G169A:p.A57T;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.G169A:p.A57T;ENSG00000166401:ENST00000353706:exon3:c.G169A:p.A57T;ENSG00000166401:ENST00000441827:exon3:c.G169A:p.A57T;ENSG00000166401:ENST00000448851:exon3:c.G169A:p.A57T;ENSG00000166401:ENST00000397985:exon3:c.G169A:p.A57T;	0.423356515113283	0.356
18	61647035	G	C	18	63979801	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.G169C:p.A57P;SERPINB8:NM_002640:exon3:c.G169C:p.A57P;SERPINB8:NM_198833:exon3:c.G169C:p.A57P;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.G169C:p.A57P;ENSG00000166401:ENST00000353706:exon3:c.G169C:p.A57P;ENSG00000166401:ENST00000441827:exon3:c.G169C:p.A57P;ENSG00000166401:ENST00000448851:exon3:c.G169C:p.A57P;ENSG00000166401:ENST00000397985:exon3:c.G169C:p.A57P;	0.99427979110311	0.86
18	61647035	G	T	18	63979801	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.G169T:p.A57S;SERPINB8:NM_002640:exon3:c.G169T:p.A57S;SERPINB8:NM_198833:exon3:c.G169T:p.A57S;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.G169T:p.A57S;ENSG00000166401:ENST00000353706:exon3:c.G169T:p.A57S;ENSG00000166401:ENST00000441827:exon3:c.G169T:p.A57S;ENSG00000166401:ENST00000448851:exon3:c.G169T:p.A57S;ENSG00000166401:ENST00000397985:exon3:c.G169T:p.A57S;	0.9977412896919	0.876
18	61647036	C	A	18	63979802	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C170A:p.A57E;SERPINB8:NM_002640:exon3:c.C170A:p.A57E;SERPINB8:NM_198833:exon3:c.C170A:p.A57E;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C170A:p.A57E;ENSG00000166401:ENST00000353706:exon3:c.C170A:p.A57E;ENSG00000166401:ENST00000441827:exon3:c.C170A:p.A57E;ENSG00000166401:ENST00000448851:exon3:c.C170A:p.A57E;ENSG00000166401:ENST00000397985:exon3:c.C170A:p.A57E;	0.0159919540635659	0.13
18	61647036	C	G	18	63979802	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C170G:p.A57G;SERPINB8:NM_002640:exon3:c.C170G:p.A57G;SERPINB8:NM_198833:exon3:c.C170G:p.A57G;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C170G:p.A57G;ENSG00000166401:ENST00000353706:exon3:c.C170G:p.A57G;ENSG00000166401:ENST00000441827:exon3:c.C170G:p.A57G;ENSG00000166401:ENST00000448851:exon3:c.C170G:p.A57G;ENSG00000166401:ENST00000397985:exon3:c.C170G:p.A57G;	1.14912174086787E-4	0.032
18	61647036	C	T	18	63979802	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C170T:p.A57V;SERPINB8:NM_002640:exon3:c.C170T:p.A57V;SERPINB8:NM_198833:exon3:c.C170T:p.A57V;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C170T:p.A57V;ENSG00000166401:ENST00000353706:exon3:c.C170T:p.A57V;ENSG00000166401:ENST00000441827:exon3:c.C170T:p.A57V;ENSG00000166401:ENST00000448851:exon3:c.C170T:p.A57V;ENSG00000166401:ENST00000397985:exon3:c.C170T:p.A57V;	2.45320207531509E-4	0.0
18	61647170	C	A	18	63979936	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C304A:p.P102T;SERPINB8:NM_002640:exon3:c.C304A:p.P102T;SERPINB8:NM_198833:exon3:c.C304A:p.P102T;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C304A:p.P102T;ENSG00000166401:ENST00000353706:exon3:c.C304A:p.P102T;ENSG00000166401:ENST00000441827:exon3:c.C304A:p.P102T;ENSG00000166401:ENST00000448851:exon3:c.C304A:p.P102T;ENSG00000166401:ENST00000397985:exon3:c.C304A:p.P102T;	6.62266837917096E-5	0.012
18	61647170	C	G	18	63979936	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C304G:p.P102A;SERPINB8:NM_002640:exon3:c.C304G:p.P102A;SERPINB8:NM_198833:exon3:c.C304G:p.P102A;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C304G:p.P102A;ENSG00000166401:ENST00000353706:exon3:c.C304G:p.P102A;ENSG00000166401:ENST00000441827:exon3:c.C304G:p.P102A;ENSG00000166401:ENST00000448851:exon3:c.C304G:p.P102A;ENSG00000166401:ENST00000397985:exon3:c.C304G:p.P102A;	7.51273847206264E-5	0.008
18	61647170	C	T	18	63979936	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C304T:p.P102S;SERPINB8:NM_002640:exon3:c.C304T:p.P102S;SERPINB8:NM_198833:exon3:c.C304T:p.P102S;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C304T:p.P102S;ENSG00000166401:ENST00000353706:exon3:c.C304T:p.P102S;ENSG00000166401:ENST00000441827:exon3:c.C304T:p.P102S;ENSG00000166401:ENST00000448851:exon3:c.C304T:p.P102S;ENSG00000166401:ENST00000397985:exon3:c.C304T:p.P102S;	4.2032233953498E-4	0.094
18	61647171	C	A	18	63979937	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C305A:p.P102Q;SERPINB8:NM_002640:exon3:c.C305A:p.P102Q;SERPINB8:NM_198833:exon3:c.C305A:p.P102Q;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C305A:p.P102Q;ENSG00000166401:ENST00000353706:exon3:c.C305A:p.P102Q;ENSG00000166401:ENST00000441827:exon3:c.C305A:p.P102Q;ENSG00000166401:ENST00000448851:exon3:c.C305A:p.P102Q;ENSG00000166401:ENST00000397985:exon3:c.C305A:p.P102Q;	0.00340009252268218	0.074
18	61647171	C	G	18	63979937	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C305G:p.P102R;SERPINB8:NM_002640:exon3:c.C305G:p.P102R;SERPINB8:NM_198833:exon3:c.C305G:p.P102R;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C305G:p.P102R;ENSG00000166401:ENST00000353706:exon3:c.C305G:p.P102R;ENSG00000166401:ENST00000441827:exon3:c.C305G:p.P102R;ENSG00000166401:ENST00000448851:exon3:c.C305G:p.P102R;ENSG00000166401:ENST00000397985:exon3:c.C305G:p.P102R;	0.562632676008165	0.52
18	61647171	C	T	18	63979937	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon3:c.C305T:p.P102L;SERPINB8:NM_002640:exon3:c.C305T:p.P102L;SERPINB8:NM_198833:exon3:c.C305T:p.P102L;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.C305T:p.P102L;ENSG00000166401:ENST00000353706:exon3:c.C305T:p.P102L;ENSG00000166401:ENST00000441827:exon3:c.C305T:p.P102L;ENSG00000166401:ENST00000448851:exon3:c.C305T:p.P102L;ENSG00000166401:ENST00000397985:exon3:c.C305T:p.P102L;	0.0259347080058181	0.082
18	61647172	A	C	18	63979938	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon3:c.A306C:p.P102P;SERPINB8:NM_002640:exon3:c.A306C:p.P102P;SERPINB8:NM_198833:exon3:c.A306C:p.P102P;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.A306C:p.P102P;ENSG00000166401:ENST00000353706:exon3:c.A306C:p.P102P;ENSG00000166401:ENST00000441827:exon3:c.A306C:p.P102P;ENSG00000166401:ENST00000448851:exon3:c.A306C:p.P102P;ENSG00000166401:ENST00000397985:exon3:c.A306C:p.P102P;	2.10338188653517E-4	0.01
18	61647172	A	G	18	63979938	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon3:c.A306G:p.P102P;SERPINB8:NM_002640:exon3:c.A306G:p.P102P;SERPINB8:NM_198833:exon3:c.A306G:p.P102P;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.A306G:p.P102P;ENSG00000166401:ENST00000353706:exon3:c.A306G:p.P102P;ENSG00000166401:ENST00000441827:exon3:c.A306G:p.P102P;ENSG00000166401:ENST00000448851:exon3:c.A306G:p.P102P;ENSG00000166401:ENST00000397985:exon3:c.A306G:p.P102P;	1.65293626318634E-4	0.088
18	61647172	A	T	18	63979938	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon3:c.A306T:p.P102P;SERPINB8:NM_002640:exon3:c.A306T:p.P102P;SERPINB8:NM_198833:exon3:c.A306T:p.P102P;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000397988:exon3:c.A306T:p.P102P;ENSG00000166401:ENST00000353706:exon3:c.A306T:p.P102P;ENSG00000166401:ENST00000441827:exon3:c.A306T:p.P102P;ENSG00000166401:ENST00000448851:exon3:c.A306T:p.P102P;ENSG00000166401:ENST00000397985:exon3:c.A306T:p.P102P;	7.96417178755303E-4	0.122
18	61647173	G	A	18	63979939	y	y	splicing	SERPINB8(NM_002640:exon3:c.306+1G>A;NM_198833:exon3:c.306+1G>A;NM_001031848:exon3:c.306+1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.306+1G>A;ENST00000353706:exon3:c.306+1G>A;ENST00000397988:exon3:c.306+1G>A;ENST00000448851:exon3:c.306+1G>A;ENST00000441827:exon3:c.306+1G>A;ENST00000295211:exon1:c.131+1G>A)	.	.	0.99999160924781	0.93
18	61647173	G	C	18	63979939	y	y	splicing	SERPINB8(NM_002640:exon3:c.306+1G>C;NM_198833:exon3:c.306+1G>C;NM_001031848:exon3:c.306+1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.306+1G>C;ENST00000353706:exon3:c.306+1G>C;ENST00000397988:exon3:c.306+1G>C;ENST00000448851:exon3:c.306+1G>C;ENST00000441827:exon3:c.306+1G>C;ENST00000295211:exon1:c.131+1G>C)	.	.	0.99999160924781	0.93
18	61647173	G	T	18	63979939	y	y	splicing	SERPINB8(NM_002640:exon3:c.306+1G>T;NM_198833:exon3:c.306+1G>T;NM_001031848:exon3:c.306+1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.306+1G>T;ENST00000353706:exon3:c.306+1G>T;ENST00000397988:exon3:c.306+1G>T;ENST00000448851:exon3:c.306+1G>T;ENST00000441827:exon3:c.306+1G>T;ENST00000295211:exon1:c.131+1G>T)	.	.	0.99999160924781	0.93
18	61647174	T	A	18	63979940	y	y	splicing	SERPINB8(NM_002640:exon3:c.306+2T>A;NM_198833:exon3:c.306+2T>A;NM_001031848:exon3:c.306+2T>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.306+2T>A;ENST00000353706:exon3:c.306+2T>A;ENST00000397988:exon3:c.306+2T>A;ENST00000448851:exon3:c.306+2T>A;ENST00000441827:exon3:c.306+2T>A;ENST00000295211:exon1:c.131+2T>A)	.	.	0.999989917668626	0.926
18	61647174	T	C	18	63979940	y	y	splicing	SERPINB8(NM_002640:exon3:c.306+2T>C;NM_198833:exon3:c.306+2T>C;NM_001031848:exon3:c.306+2T>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.306+2T>C;ENST00000353706:exon3:c.306+2T>C;ENST00000397988:exon3:c.306+2T>C;ENST00000448851:exon3:c.306+2T>C;ENST00000441827:exon3:c.306+2T>C;ENST00000295211:exon1:c.131+2T>C)	.	.	0.993792413477353	0.622
18	61647174	T	G	18	63979940	y	y	splicing	SERPINB8(NM_002640:exon3:c.306+2T>G;NM_198833:exon3:c.306+2T>G;NM_001031848:exon3:c.306+2T>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon3:c.306+2T>G;ENST00000353706:exon3:c.306+2T>G;ENST00000397988:exon3:c.306+2T>G;ENST00000448851:exon3:c.306+2T>G;ENST00000441827:exon3:c.306+2T>G;ENST00000295211:exon1:c.131+2T>G)	.	.	0.999989917668626	0.926
18	61647175	A	C	18	63979941	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999881171320323	0.94
18	61647175	A	G	18	63979941	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.796423850994075	0.384
18	61647175	A	T	18	63979941	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.99983504751626	0.996
18	61647176	A	C	18	63979942	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.875391637364231	0.562
18	61647176	A	G	18	63979942	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.991511662182031	0.898
18	61647176	A	T	18	63979942	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.986608418541017	0.802
18	61647177	G	A	18	63979943	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999972639806087	0.998
18	61647177	G	C	18	63979943	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999968543938335	0.996
18	61647177	G	T	18	63979943	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999968543938335	0.97
18	61647178	T	A	18	63979944	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.475426670887888	0.464
18	61647178	T	C	18	63979944	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.608627463567369	0.558
18	61647178	T	G	18	63979944	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.689756901267498	0.546
18	61647179	A	C	18	63979945	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.62451413244143E-4	0.0
18	61647179	A	G	18	63979945	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.47855386970985E-4	0.0
18	61647179	A	T	18	63979945	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.10283172238526E-4	0.002
18	61647180	G	A	18	63979946	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.20027649574083E-4	0.008
18	61647180	G	C	18	63979946	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.22076517531591E-4	0.002
18	61647180	G	T	18	63979946	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.59217245703111E-4	0.004
18	61648943	T	A	18	63981709	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.334825315801179	0.396
18	61648943	T	C	18	63981709	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.26640203385838E-4	0.038
18	61648943	T	G	18	63981709	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.220041348838295	0.376
18	61648944	T	A	18	63981710	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999968815420277	0.96
18	61648944	T	C	18	63981710	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.100064663790771	0.134
18	61648944	T	G	18	63981710	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.994487197307458	0.746
18	61648945	G	A	18	63981711	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.17051881480736E-5	0.046
18	61648945	G	C	18	63981711	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.29644647875401E-5	0.038
18	61648945	G	T	18	63981711	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.05173643260254E-5	0.028
18	61648946	T	A	18	63981712	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999918138835029	0.936
18	61648946	T	C	18	63981712	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.29612193166904E-5	0.084
18	61648946	T	G	18	63981712	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.143102274021262	0.366
18	61648947	G	A	18	63981713	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.21365295216456E-4	0.012
18	61648947	G	C	18	63981713	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.69492794309487E-5	0.0
18	61648947	G	T	18	63981713	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.4349782486883E-5	0.0
18	61648948	T	A	18	63981714	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.481241249611203	0.416
18	61648948	T	C	18	63981714	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.90384169585313E-4	0.004
18	61648948	T	G	18	63981714	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0584863497528237	0.22
18	61648949	T	A	18	63981715	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00510386460676831	0.088
18	61648949	T	C	18	63981715	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.08331619443182E-5	0.014
18	61648949	T	G	18	63981715	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.005323942080143	0.112
18	61648950	T	A	18	63981716	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.99983093810803	0.856
18	61648950	T	C	18	63981716	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.6109898421864E-4	0.058
18	61648950	T	G	18	63981716	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.5113109616732	0.288
18	61648951	G	A	18	63981717	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.37552823281253E-4	0.058
18	61648951	G	C	18	63981717	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.58058113240282E-5	0.002
18	61648951	G	T	18	63981717	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.8277504363473E-4	0.002
18	61648952	C	A	18	63981718	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.383464881962512	0.302
18	61648952	C	G	18	63981718	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.990263790800428	0.662
18	61648952	C	T	18	63981718	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.61349443522888E-4	0.016
18	61648953	A	C	18	63981719	y	y	splicing	SERPINB8(NM_002640:exon4:c.307-2A>C;NM_198833:exon4:c.307-2A>C;NM_001031848:exon4:c.307-2A>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.307-2A>C;ENST00000353706:exon4:c.307-2A>C;ENST00000397988:exon4:c.307-2A>C;ENST00000448851:exon4:c.307-2A>C;ENST00000441827:exon4:c.307-2A>C;ENST00000295211:exon2:c.132-2A>C)	.	.	0.99996509239462	0.94
18	61648953	A	G	18	63981719	y	y	splicing	SERPINB8(NM_002640:exon4:c.307-2A>G;NM_198833:exon4:c.307-2A>G;NM_001031848:exon4:c.307-2A>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.307-2A>G;ENST00000353706:exon4:c.307-2A>G;ENST00000397988:exon4:c.307-2A>G;ENST00000448851:exon4:c.307-2A>G;ENST00000441827:exon4:c.307-2A>G;ENST00000295211:exon2:c.132-2A>G)	.	.	0.99996509239462	0.94
18	61648953	A	T	18	63981719	y	y	splicing	SERPINB8(NM_002640:exon4:c.307-2A>T;NM_198833:exon4:c.307-2A>T;NM_001031848:exon4:c.307-2A>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.307-2A>T;ENST00000353706:exon4:c.307-2A>T;ENST00000397988:exon4:c.307-2A>T;ENST00000448851:exon4:c.307-2A>T;ENST00000441827:exon4:c.307-2A>T;ENST00000295211:exon2:c.132-2A>T)	.	.	0.99996509239462	0.932
18	61648954	G	A	18	63981720	y	y	splicing	SERPINB8(NM_002640:exon4:c.307-1G>A;NM_198833:exon4:c.307-1G>A;NM_001031848:exon4:c.307-1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.307-1G>A;ENST00000353706:exon4:c.307-1G>A;ENST00000397988:exon4:c.307-1G>A;ENST00000448851:exon4:c.307-1G>A;ENST00000441827:exon4:c.307-1G>A;ENST00000295211:exon2:c.132-1G>A)	.	.	0.99995545544995	0.922
18	61648954	G	C	18	63981720	y	y	splicing	SERPINB8(NM_002640:exon4:c.307-1G>C;NM_198833:exon4:c.307-1G>C;NM_001031848:exon4:c.307-1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.307-1G>C;ENST00000353706:exon4:c.307-1G>C;ENST00000397988:exon4:c.307-1G>C;ENST00000448851:exon4:c.307-1G>C;ENST00000441827:exon4:c.307-1G>C;ENST00000295211:exon2:c.132-1G>C)	.	.	0.99995545544995	0.924
18	61648954	G	T	18	63981720	y	y	splicing	SERPINB8(NM_002640:exon4:c.307-1G>T;NM_198833:exon4:c.307-1G>T;NM_001031848:exon4:c.307-1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.307-1G>T;ENST00000353706:exon4:c.307-1G>T;ENST00000397988:exon4:c.307-1G>T;ENST00000448851:exon4:c.307-1G>T;ENST00000441827:exon4:c.307-1G>T;ENST00000295211:exon2:c.132-1G>T)	.	.	0.99995545544995	0.924
18	61648955	G	A	18	63981721	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.G307A:p.D103N;SERPINB8:NM_002640:exon4:c.G307A:p.D103N;SERPINB8:NM_198833:exon4:c.G307A:p.D103N;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.G307A:p.D103N;ENSG00000166401:ENST00000353706:exon4:c.G307A:p.D103N;ENSG00000166401:ENST00000441827:exon4:c.G307A:p.D103N;ENSG00000166401:ENST00000448851:exon4:c.G307A:p.D103N;ENSG00000166401:ENST00000397985:exon4:c.G307A:p.D103N;	0.0122400391925688	0.266
18	61648955	G	C	18	63981721	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.G307C:p.D103H;SERPINB8:NM_002640:exon4:c.G307C:p.D103H;SERPINB8:NM_198833:exon4:c.G307C:p.D103H;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.G307C:p.D103H;ENSG00000166401:ENST00000353706:exon4:c.G307C:p.D103H;ENSG00000166401:ENST00000441827:exon4:c.G307C:p.D103H;ENSG00000166401:ENST00000448851:exon4:c.G307C:p.D103H;ENSG00000166401:ENST00000397985:exon4:c.G307C:p.D103H;	0.0945468096029353	0.47
18	61648955	G	T	18	63981721	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.G307T:p.D103Y;SERPINB8:NM_002640:exon4:c.G307T:p.D103Y;SERPINB8:NM_198833:exon4:c.G307T:p.D103Y;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.G307T:p.D103Y;ENSG00000166401:ENST00000353706:exon4:c.G307T:p.D103Y;ENSG00000166401:ENST00000441827:exon4:c.G307T:p.D103Y;ENSG00000166401:ENST00000448851:exon4:c.G307T:p.D103Y;ENSG00000166401:ENST00000397985:exon4:c.G307T:p.D103Y;	0.856773137456972	0.608
18	61648956	A	C	18	63981722	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.A308C:p.D103A;SERPINB8:NM_002640:exon4:c.A308C:p.D103A;SERPINB8:NM_198833:exon4:c.A308C:p.D103A;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A308C:p.D103A;ENSG00000166401:ENST00000353706:exon4:c.A308C:p.D103A;ENSG00000166401:ENST00000441827:exon4:c.A308C:p.D103A;ENSG00000166401:ENST00000448851:exon4:c.A308C:p.D103A;ENSG00000166401:ENST00000397985:exon4:c.A308C:p.D103A;	2.86808512262031E-5	0.0
18	61648956	A	G	18	63981722	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.A308G:p.D103G;SERPINB8:NM_002640:exon4:c.A308G:p.D103G;SERPINB8:NM_198833:exon4:c.A308G:p.D103G;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A308G:p.D103G;ENSG00000166401:ENST00000353706:exon4:c.A308G:p.D103G;ENSG00000166401:ENST00000441827:exon4:c.A308G:p.D103G;ENSG00000166401:ENST00000448851:exon4:c.A308G:p.D103G;ENSG00000166401:ENST00000397985:exon4:c.A308G:p.D103G;	6.72379702010745E-5	0.03
18	61648956	A	T	18	63981722	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.A308T:p.D103V;SERPINB8:NM_002640:exon4:c.A308T:p.D103V;SERPINB8:NM_198833:exon4:c.A308T:p.D103V;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A308T:p.D103V;ENSG00000166401:ENST00000353706:exon4:c.A308T:p.D103V;ENSG00000166401:ENST00000441827:exon4:c.A308T:p.D103V;ENSG00000166401:ENST00000448851:exon4:c.A308T:p.D103V;ENSG00000166401:ENST00000397985:exon4:c.A308T:p.D103V;	1.66545576893156E-5	0.0
18	61649070	A	C	18	63981836	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.A422C:p.E141A;SERPINB8:NM_002640:exon4:c.A422C:p.E141A;SERPINB8:NM_198833:exon4:c.A422C:p.E141A;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A422C:p.E141A;ENSG00000166401:ENST00000353706:exon4:c.A422C:p.E141A;ENSG00000166401:ENST00000441827:exon4:c.A422C:p.E141A;ENSG00000166401:ENST00000397985:exon4:c.A422C:p.E141A;	0.619438854033857	0.498
18	61649070	A	G	18	63981836	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.A422G:p.E141G;SERPINB8:NM_002640:exon4:c.A422G:p.E141G;SERPINB8:NM_198833:exon4:c.A422G:p.E141G;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A422G:p.E141G;ENSG00000166401:ENST00000353706:exon4:c.A422G:p.E141G;ENSG00000166401:ENST00000441827:exon4:c.A422G:p.E141G;ENSG00000166401:ENST00000397985:exon4:c.A422G:p.E141G;	0.243324143459073	0.426
18	61649070	A	T	18	63981836	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.A422T:p.E141V;SERPINB8:NM_002640:exon4:c.A422T:p.E141V;SERPINB8:NM_198833:exon4:c.A422T:p.E141V;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A422T:p.E141V;ENSG00000166401:ENST00000353706:exon4:c.A422T:p.E141V;ENSG00000166401:ENST00000441827:exon4:c.A422T:p.E141V;ENSG00000166401:ENST00000397985:exon4:c.A422T:p.E141V;	0.981898334046839	0.636
18	61649071	A	C	18	63981837	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.A423C:p.E141D;SERPINB8:NM_002640:exon4:c.A423C:p.E141D;SERPINB8:NM_198833:exon4:c.A423C:p.E141D;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A423C:p.E141D;ENSG00000166401:ENST00000353706:exon4:c.A423C:p.E141D;ENSG00000166401:ENST00000441827:exon4:c.A423C:p.E141D;ENSG00000166401:ENST00000397985:exon4:c.A423C:p.E141D;	0.431214804070744	0.628
18	61649071	A	G	18	63981837	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon4:c.A423G:p.E141E;SERPINB8:NM_002640:exon4:c.A423G:p.E141E;SERPINB8:NM_198833:exon4:c.A423G:p.E141E;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A423G:p.E141E;ENSG00000166401:ENST00000353706:exon4:c.A423G:p.E141E;ENSG00000166401:ENST00000441827:exon4:c.A423G:p.E141E;ENSG00000166401:ENST00000397985:exon4:c.A423G:p.E141E;	0.962122672566883	0.796
18	61649071	A	T	18	63981837	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.A423T:p.E141D;SERPINB8:NM_002640:exon4:c.A423T:p.E141D;SERPINB8:NM_198833:exon4:c.A423T:p.E141D;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.A423T:p.E141D;ENSG00000166401:ENST00000353706:exon4:c.A423T:p.E141D;ENSG00000166401:ENST00000441827:exon4:c.A423T:p.E141D;ENSG00000166401:ENST00000397985:exon4:c.A423T:p.E141D;	0.989657054407118	0.762
18	61649072	G	A	18	63981838	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.G424A:p.G142S;SERPINB8:NM_002640:exon4:c.G424A:p.G142S;SERPINB8:NM_198833:exon4:c.G424A:p.G142S;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.G424A:p.G142S;ENSG00000166401:ENST00000353706:exon4:c.G424A:p.G142S;ENSG00000166401:ENST00000441827:exon4:c.G424A:p.G142S;ENSG00000166401:ENST00000397985:exon4:c.G424A:p.G142S;	0.999974416438537	0.998
18	61649072	G	C	18	63981838	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.G424C:p.G142R;SERPINB8:NM_002640:exon4:c.G424C:p.G142R;SERPINB8:NM_198833:exon4:c.G424C:p.G142R;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.G424C:p.G142R;ENSG00000166401:ENST00000353706:exon4:c.G424C:p.G142R;ENSG00000166401:ENST00000441827:exon4:c.G424C:p.G142R;ENSG00000166401:ENST00000397985:exon4:c.G424C:p.G142R;	0.999996194935816	0.998
18	61649072	G	T	18	63981838	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon4:c.G424T:p.G142C;SERPINB8:NM_002640:exon4:c.G424T:p.G142C;SERPINB8:NM_198833:exon4:c.G424T:p.G142C;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon4:c.G424T:p.G142C;ENSG00000166401:ENST00000353706:exon4:c.G424T:p.G142C;ENSG00000166401:ENST00000441827:exon4:c.G424T:p.G142C;ENSG00000166401:ENST00000397985:exon4:c.G424T:p.G142C;	0.999959372359134	0.986
18	61649073	G	A	18	63981839	y	y	splicing	SERPINB8(NM_002640:exon4:c.424+1G>A;NM_198833:exon4:c.424+1G>A;NM_001031848:exon4:c.424+1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.424+1G>A;ENST00000353706:exon4:c.424+1G>A;ENST00000397988:exon4:c.424+1G>A;ENST00000441827:exon4:c.424+1G>A;ENST00000295211:exon2:c.249+1G>A)	.	.	0.999990361384395	0.926
18	61649073	G	C	18	63981839	y	y	splicing	SERPINB8(NM_002640:exon4:c.424+1G>C;NM_198833:exon4:c.424+1G>C;NM_001031848:exon4:c.424+1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.424+1G>C;ENST00000353706:exon4:c.424+1G>C;ENST00000397988:exon4:c.424+1G>C;ENST00000441827:exon4:c.424+1G>C;ENST00000295211:exon2:c.249+1G>C)	.	.	0.999990361384395	0.926
18	61649073	G	T	18	63981839	y	y	splicing	SERPINB8(NM_002640:exon4:c.424+1G>T;NM_198833:exon4:c.424+1G>T;NM_001031848:exon4:c.424+1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.424+1G>T;ENST00000353706:exon4:c.424+1G>T;ENST00000397988:exon4:c.424+1G>T;ENST00000441827:exon4:c.424+1G>T;ENST00000295211:exon2:c.249+1G>T)	.	.	0.999990361384395	0.926
18	61649074	T	A	18	63981840	y	y	splicing	SERPINB8(NM_002640:exon4:c.424+2T>A;NM_198833:exon4:c.424+2T>A;NM_001031848:exon4:c.424+2T>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.424+2T>A;ENST00000353706:exon4:c.424+2T>A;ENST00000397988:exon4:c.424+2T>A;ENST00000441827:exon4:c.424+2T>A;ENST00000295211:exon2:c.249+2T>A)	.	.	0.999986472513537	0.93
18	61649074	T	C	18	63981840	y	y	splicing	SERPINB8(NM_002640:exon4:c.424+2T>C;NM_198833:exon4:c.424+2T>C;NM_001031848:exon4:c.424+2T>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.424+2T>C;ENST00000353706:exon4:c.424+2T>C;ENST00000397988:exon4:c.424+2T>C;ENST00000441827:exon4:c.424+2T>C;ENST00000295211:exon2:c.249+2T>C)	.	.	0.999913501570304	0.844
18	61649074	T	G	18	63981840	y	y	splicing	SERPINB8(NM_002640:exon4:c.424+2T>G;NM_198833:exon4:c.424+2T>G;NM_001031848:exon4:c.424+2T>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon4:c.424+2T>G;ENST00000353706:exon4:c.424+2T>G;ENST00000397988:exon4:c.424+2T>G;ENST00000441827:exon4:c.424+2T>G;ENST00000295211:exon2:c.249+2T>G)	.	.	0.999986472513537	0.928
18	61649075	G	A	18	63981841	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.16680043901193E-5	0.0
18	61649075	G	C	18	63981841	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0709460950567512	0.264
18	61649075	G	T	18	63981841	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.048365047184489	0.242
18	61649076	A	C	18	63981842	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.567430616007962	0.408
18	61649076	A	G	18	63981842	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.886164580806458	0.508
18	61649076	A	T	18	63981842	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.981919241499455	0.504
18	61649077	G	A	18	63981843	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.997765643450942	0.852
18	61649077	G	C	18	63981843	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.997782267540604	0.864
18	61649077	G	T	18	63981843	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999472746961574	0.804
18	61649078	A	C	18	63981844	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.21960658845477E-4	0.014
18	61649078	A	G	18	63981844	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.04635846556142E-4	0.0
18	61649078	A	T	18	63981844	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.37393115257809E-4	0.006
18	61649079	C	A	18	63981845	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.23986773567894E-5	0.0
18	61649079	C	G	18	63981845	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.92246450826411E-5	0.0
18	61649079	C	T	18	63981845	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.39701094517455E-4	0.0
18	61649080	A	C	18	63981846	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.87947867502487E-4	0.002
18	61649080	A	G	18	63981846	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.72221899442262E-4	0.0
18	61649080	A	T	18	63981846	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.82771653351731E-4	0.002
18	61650801	T	A	18	63983567	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.801289494154133	0.476
18	61650801	T	C	18	63983567	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00239163509895859	0.16
18	61650801	T	G	18	63983567	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999906141381544	0.914
18	61650802	A	C	18	63983568	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	9.54482093248299E-6	0.086
18	61650802	A	G	18	63983568	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.2954064102842E-5	0.044
18	61650802	A	T	18	63983568	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.20436116918051E-5	0.15
18	61650803	T	A	18	63983569	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.516810567652638	0.5
18	61650803	T	C	18	63983569	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.54342361252772E-5	0.064
18	61650803	T	G	18	63983569	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999893136912924	0.948
18	61650804	T	A	18	63983570	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.529030305116534	0.516
18	61650804	T	C	18	63983570	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00148280688561456	0.092
18	61650804	T	G	18	63983570	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.300228758309196	0.474
18	61650805	C	A	18	63983571	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0299173781747894	0.194
18	61650805	C	G	18	63983571	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0144710573603558	0.18
18	61650805	C	T	18	63983571	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.34762935307186E-4	0.012
18	61650806	T	A	18	63983572	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.500111083540442	0.554
18	61650806	T	C	18	63983572	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00407015959543475	0.074
18	61650806	T	G	18	63983572	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.770871881606687	0.562
18	61650807	T	A	18	63983573	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.123968303840628	0.464
18	61650807	T	C	18	63983573	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.82540063790706E-4	0.008
18	61650807	T	G	18	63983573	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.207041760626024	0.502
18	61650808	T	A	18	63983574	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.620772837434198	0.666
18	61650808	T	C	18	63983574	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.64983371707999E-4	0.024
18	61650808	T	G	18	63983574	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.298858914363995	0.606
18	61650809	A	C	18	63983575	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.36225853899775E-4	0.0
18	61650809	A	G	18	63983575	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.04337117932012E-4	0.0
18	61650809	A	T	18	63983575	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.99937176180907E-5	0.008
18	61650810	T	A	18	63983576	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00468738233177215	0.134
18	61650810	T	C	18	63983576	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.77335697873178E-5	0.0
18	61650810	T	G	18	63983576	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.990648377344041	0.726
18	61650811	A	C	18	63983577	y	y	splicing	SERPINB8(NM_002640:exon5:c.425-2A>C;NM_198833:exon5:c.425-2A>C;NM_001031848:exon5:c.425-2A>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.425-2A>C;ENST00000353706:exon5:c.425-2A>C;ENST00000397988:exon5:c.425-2A>C;ENST00000441827:exon5:c.425-2A>C;ENST00000295211:exon3:c.250-2A>C)	.	.	0.999988247793601	0.932
18	61650811	A	G	18	63983577	y	y	splicing	SERPINB8(NM_002640:exon5:c.425-2A>G;NM_198833:exon5:c.425-2A>G;NM_001031848:exon5:c.425-2A>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.425-2A>G;ENST00000353706:exon5:c.425-2A>G;ENST00000397988:exon5:c.425-2A>G;ENST00000441827:exon5:c.425-2A>G;ENST00000295211:exon3:c.250-2A>G)	.	.	0.999988247793601	0.932
18	61650811	A	T	18	63983577	y	y	splicing	SERPINB8(NM_002640:exon5:c.425-2A>T;NM_198833:exon5:c.425-2A>T;NM_001031848:exon5:c.425-2A>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.425-2A>T;ENST00000353706:exon5:c.425-2A>T;ENST00000397988:exon5:c.425-2A>T;ENST00000441827:exon5:c.425-2A>T;ENST00000295211:exon3:c.250-2A>T)	.	.	0.999988247793601	0.932
18	61650812	G	A	18	63983578	y	y	splicing	SERPINB8(NM_002640:exon5:c.425-1G>A;NM_198833:exon5:c.425-1G>A;NM_001031848:exon5:c.425-1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.425-1G>A;ENST00000353706:exon5:c.425-1G>A;ENST00000397988:exon5:c.425-1G>A;ENST00000441827:exon5:c.425-1G>A;ENST00000295211:exon3:c.250-1G>A)	.	.	0.999990361384395	0.938
18	61650812	G	C	18	63983578	y	y	splicing	SERPINB8(NM_002640:exon5:c.425-1G>C;NM_198833:exon5:c.425-1G>C;NM_001031848:exon5:c.425-1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.425-1G>C;ENST00000353706:exon5:c.425-1G>C;ENST00000397988:exon5:c.425-1G>C;ENST00000441827:exon5:c.425-1G>C;ENST00000295211:exon3:c.250-1G>C)	.	.	0.999990361384395	0.938
18	61650812	G	T	18	63983578	y	y	splicing	SERPINB8(NM_002640:exon5:c.425-1G>T;NM_198833:exon5:c.425-1G>T;NM_001031848:exon5:c.425-1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.425-1G>T;ENST00000353706:exon5:c.425-1G>T;ENST00000397988:exon5:c.425-1G>T;ENST00000441827:exon5:c.425-1G>T;ENST00000295211:exon3:c.250-1G>T)	.	.	0.999990361384395	0.938
18	61650813	G	A	18	63983579	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.G425A:p.G142D;SERPINB8:NM_002640:exon5:c.G425A:p.G142D;SERPINB8:NM_198833:exon5:c.G425A:p.G142D;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon5:c.G425A:p.G142D;ENSG00000166401:ENST00000353706:exon5:c.G425A:p.G142D;ENSG00000166401:ENST00000441827:exon5:c.G425A:p.G142D;ENSG00000166401:ENST00000397985:exon5:c.G425A:p.G142D;	0.999562569583685	0.938
18	61650813	G	C	18	63983579	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.G425C:p.G142A;SERPINB8:NM_002640:exon5:c.G425C:p.G142A;SERPINB8:NM_198833:exon5:c.G425C:p.G142A;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon5:c.G425C:p.G142A;ENSG00000166401:ENST00000353706:exon5:c.G425C:p.G142A;ENSG00000166401:ENST00000441827:exon5:c.G425C:p.G142A;ENSG00000166401:ENST00000397985:exon5:c.G425C:p.G142A;	0.999658429700371	0.966
18	61650813	G	T	18	63983579	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.G425T:p.G142V;SERPINB8:NM_002640:exon5:c.G425T:p.G142V;SERPINB8:NM_198833:exon5:c.G425T:p.G142V;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon5:c.G425T:p.G142V;ENSG00000166401:ENST00000353706:exon5:c.G425T:p.G142V;ENSG00000166401:ENST00000441827:exon5:c.G425T:p.G142V;ENSG00000166401:ENST00000397985:exon5:c.G425T:p.G142V;	0.999852363242049	0.982
18	61650814	T	A	18	63983580	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon5:c.T426A:p.G142G;SERPINB8:NM_002640:exon5:c.T426A:p.G142G;SERPINB8:NM_198833:exon5:c.T426A:p.G142G;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000397988:exon5:c.T426A:p.G142G;ENSG00000166401:ENST00000353706:exon5:c.T426A:p.G142G;ENSG00000166401:ENST00000441827:exon5:c.T426A:p.G142G;ENSG00000166401:ENST00000397985:exon5:c.T426A:p.G142G;	7.70104435866586E-5	0.004
18	61650814	T	C	18	63983580	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon5:c.T426C:p.G142G;SERPINB8:NM_002640:exon5:c.T426C:p.G142G;SERPINB8:NM_198833:exon5:c.T426C:p.G142G;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000397988:exon5:c.T426C:p.G142G;ENSG00000166401:ENST00000353706:exon5:c.T426C:p.G142G;ENSG00000166401:ENST00000441827:exon5:c.T426C:p.G142G;ENSG00000166401:ENST00000397985:exon5:c.T426C:p.G142G;	2.35531816696128E-4	0.046
18	61650814	T	G	18	63983580	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon5:c.T426G:p.G142G;SERPINB8:NM_002640:exon5:c.T426G:p.G142G;SERPINB8:NM_198833:exon5:c.T426G:p.G142G;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000397988:exon5:c.T426G:p.G142G;ENSG00000166401:ENST00000353706:exon5:c.T426G:p.G142G;ENSG00000166401:ENST00000441827:exon5:c.T426G:p.G142G;ENSG00000166401:ENST00000397985:exon5:c.T426G:p.G142G;	1.60698633042674E-4	0.024
18	61650953	G	A	18	63983719	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.G565A:p.E189K;SERPINB8:NM_001276490:exon4:c.G19A:p.E7K;SERPINB8:NM_002640:exon5:c.G565A:p.E189K;SERPINB8:NM_198833:exon5:c.G565A:p.E189K;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon4:c.G19A:p.E7K;ENSG00000166401:ENST00000397988:exon5:c.G565A:p.E189K;ENSG00000166401:ENST00000353706:exon5:c.G565A:p.E189K;ENSG00000166401:ENST00000397985:exon5:c.G565A:p.E189K;	1.24885453171582E-5	0.002
18	61650953	G	C	18	63983719	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.G565C:p.E189Q;SERPINB8:NM_001276490:exon4:c.G19C:p.E7Q;SERPINB8:NM_002640:exon5:c.G565C:p.E189Q;SERPINB8:NM_198833:exon5:c.G565C:p.E189Q;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon4:c.G19C:p.E7Q;ENSG00000166401:ENST00000397988:exon5:c.G565C:p.E189Q;ENSG00000166401:ENST00000353706:exon5:c.G565C:p.E189Q;ENSG00000166401:ENST00000397985:exon5:c.G565C:p.E189Q;	1.58716764222823E-5	0.002
18	61650953	G	T	18	63983719	y	y	exonic	SERPINB8	stopgain SNV	SERPINB8:NM_001031848:exon5:c.G565T:p.E189X;SERPINB8:NM_001276490:exon4:c.G19T:p.E7X;SERPINB8:NM_002640:exon5:c.G565T:p.E189X;SERPINB8:NM_198833:exon5:c.G565T:p.E189X;	exonic	ENSG00000166401	stopgain SNV	ENSG00000166401:ENST00000542677:exon4:c.G19T:p.E7X;ENSG00000166401:ENST00000397988:exon5:c.G565T:p.E189X;ENSG00000166401:ENST00000353706:exon5:c.G565T:p.E189X;ENSG00000166401:ENST00000397985:exon5:c.G565T:p.E189X;	9.9108702788901E-4	0.2
18	61650954	A	C	18	63983720	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.A566C:p.E189A;SERPINB8:NM_001276490:exon4:c.A20C:p.E7A;SERPINB8:NM_002640:exon5:c.A566C:p.E189A;SERPINB8:NM_198833:exon5:c.A566C:p.E189A;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon4:c.A20C:p.E7A;ENSG00000166401:ENST00000397988:exon5:c.A566C:p.E189A;ENSG00000166401:ENST00000353706:exon5:c.A566C:p.E189A;ENSG00000166401:ENST00000397985:exon5:c.A566C:p.E189A;	0.99946126461173	0.968
18	61650954	A	G	18	63983720	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.A566G:p.E189G;SERPINB8:NM_001276490:exon4:c.A20G:p.E7G;SERPINB8:NM_002640:exon5:c.A566G:p.E189G;SERPINB8:NM_198833:exon5:c.A566G:p.E189G;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon4:c.A20G:p.E7G;ENSG00000166401:ENST00000397988:exon5:c.A566G:p.E189G;ENSG00000166401:ENST00000353706:exon5:c.A566G:p.E189G;ENSG00000166401:ENST00000397985:exon5:c.A566G:p.E189G;	0.999575175359251	0.998
18	61650954	A	T	18	63983720	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.A566T:p.E189V;SERPINB8:NM_001276490:exon4:c.A20T:p.E7V;SERPINB8:NM_002640:exon5:c.A566T:p.E189V;SERPINB8:NM_198833:exon5:c.A566T:p.E189V;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon4:c.A20T:p.E7V;ENSG00000166401:ENST00000397988:exon5:c.A566T:p.E189V;ENSG00000166401:ENST00000353706:exon5:c.A566T:p.E189V;ENSG00000166401:ENST00000397985:exon5:c.A566T:p.E189V;	0.999892725009813	0.992
18	61650955	G	A	18	63983721	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon5:c.G567A:p.E189E;SERPINB8:NM_001276490:exon4:c.G21A:p.E7E;SERPINB8:NM_002640:exon5:c.G567A:p.E189E;SERPINB8:NM_198833:exon5:c.G567A:p.E189E;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000542677:exon4:c.G21A:p.E7E;ENSG00000166401:ENST00000397988:exon5:c.G567A:p.E189E;ENSG00000166401:ENST00000353706:exon5:c.G567A:p.E189E;ENSG00000166401:ENST00000397985:exon5:c.G567A:p.E189E;	0.999954692231082	0.982
18	61650955	G	C	18	63983721	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.G567C:p.E189D;SERPINB8:NM_001276490:exon4:c.G21C:p.E7D;SERPINB8:NM_002640:exon5:c.G567C:p.E189D;SERPINB8:NM_198833:exon5:c.G567C:p.E189D;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon4:c.G21C:p.E7D;ENSG00000166401:ENST00000397988:exon5:c.G567C:p.E189D;ENSG00000166401:ENST00000353706:exon5:c.G567C:p.E189D;ENSG00000166401:ENST00000397985:exon5:c.G567C:p.E189D;	0.999995010760638	0.996
18	61650955	G	T	18	63983721	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon5:c.G567T:p.E189D;SERPINB8:NM_001276490:exon4:c.G21T:p.E7D;SERPINB8:NM_002640:exon5:c.G567T:p.E189D;SERPINB8:NM_198833:exon5:c.G567T:p.E189D;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon4:c.G21T:p.E7D;ENSG00000166401:ENST00000397988:exon5:c.G567T:p.E189D;ENSG00000166401:ENST00000353706:exon5:c.G567T:p.E189D;ENSG00000166401:ENST00000397985:exon5:c.G567T:p.E189D;	0.99998153062293	0.998
18	61650956	G	A	18	63983722	y	y	splicing	SERPINB8(NM_001276490:exon4:c.21+1G>A;NM_002640:exon5:c.567+1G>A;NM_198833:exon5:c.567+1G>A;NM_001031848:exon5:c.567+1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.567+1G>A;ENST00000353706:exon5:c.567+1G>A;ENST00000542677:exon4:c.21+1G>A;ENST00000397988:exon5:c.567+1G>A;ENST00000295211:exon3:c.392+1G>A)	.	.	0.99995586615188	0.94
18	61650956	G	C	18	63983722	y	y	splicing	SERPINB8(NM_001276490:exon4:c.21+1G>C;NM_002640:exon5:c.567+1G>C;NM_198833:exon5:c.567+1G>C;NM_001031848:exon5:c.567+1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.567+1G>C;ENST00000353706:exon5:c.567+1G>C;ENST00000542677:exon4:c.21+1G>C;ENST00000397988:exon5:c.567+1G>C;ENST00000295211:exon3:c.392+1G>C)	.	.	0.999971209564868	0.938
18	61650956	G	T	18	63983722	y	y	splicing	SERPINB8(NM_001276490:exon4:c.21+1G>T;NM_002640:exon5:c.567+1G>T;NM_198833:exon5:c.567+1G>T;NM_001031848:exon5:c.567+1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.567+1G>T;ENST00000353706:exon5:c.567+1G>T;ENST00000542677:exon4:c.21+1G>T;ENST00000397988:exon5:c.567+1G>T;ENST00000295211:exon3:c.392+1G>T)	.	.	0.999971209564868	0.938
18	61650957	T	A	18	63983723	y	y	splicing	SERPINB8(NM_001276490:exon4:c.21+2T>A;NM_002640:exon5:c.567+2T>A;NM_198833:exon5:c.567+2T>A;NM_001031848:exon5:c.567+2T>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.567+2T>A;ENST00000353706:exon5:c.567+2T>A;ENST00000542677:exon4:c.21+2T>A;ENST00000397988:exon5:c.567+2T>A;ENST00000295211:exon3:c.392+2T>A)	.	.	0.999964896440643	0.938
18	61650957	T	C	18	63983723	y	y	splicing	SERPINB8(NM_001276490:exon4:c.21+2T>C;NM_002640:exon5:c.567+2T>C;NM_198833:exon5:c.567+2T>C;NM_001031848:exon5:c.567+2T>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.567+2T>C;ENST00000353706:exon5:c.567+2T>C;ENST00000542677:exon4:c.21+2T>C;ENST00000397988:exon5:c.567+2T>C;ENST00000295211:exon3:c.392+2T>C)	.	.	0.980709411031275	0.638
18	61650957	T	G	18	63983723	y	y	splicing	SERPINB8(NM_001276490:exon4:c.21+2T>G;NM_002640:exon5:c.567+2T>G;NM_198833:exon5:c.567+2T>G;NM_001031848:exon5:c.567+2T>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon5:c.567+2T>G;ENST00000353706:exon5:c.567+2T>G;ENST00000542677:exon4:c.21+2T>G;ENST00000397988:exon5:c.567+2T>G;ENST00000295211:exon3:c.392+2T>G)	.	.	0.999951957019574	0.916
18	61650958	A	C	18	63983724	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999672342670548	0.876
18	61650958	A	G	18	63983724	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.760011606339224	0.508
18	61650958	A	T	18	63983724	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.997520985377784	0.866
18	61650959	G	A	18	63983725	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.0872919587143E-4	0.058
18	61650959	G	C	18	63983725	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.22139164738596E-5	0.01
18	61650959	G	T	18	63983725	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.89089475364158E-5	0.002
18	61650960	G	A	18	63983726	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.995276366211938	0.626
18	61650960	G	C	18	63983726	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.944133922016537	0.56
18	61650960	G	T	18	63983726	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.99922820115318	0.66
18	61650961	G	A	18	63983727	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.4281802263241E-5	0.0
18	61650961	G	C	18	63983727	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.45496962403226E-5	0.002
18	61650961	G	T	18	63983727	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.90869977530696E-5	0.0
18	61650962	A	C	18	63983728	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.00265667476694E-5	0.004
18	61650962	A	G	18	63983728	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.09766989031712E-4	0.002
18	61650962	A	T	18	63983728	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.1514079422856E-5	0.002
18	61650963	A	C	18	63983729	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.19472440968208E-5	0.006
18	61650963	A	G	18	63983729	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.87540186335226E-6	0.006
18	61650963	A	T	18	63983729	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.84577098812486E-5	0.03
18	61652315	T	A	18	63985081	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0159626574448442	0.276
18	61652315	T	C	18	63985081	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00103498753182171	0.124
18	61652315	T	G	18	63985081	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999945529458085	0.98
18	61652316	T	A	18	63985082	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.287345819415495	0.484
18	61652316	T	C	18	63985082	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00102849180763555	0.036
18	61652316	T	G	18	63985082	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0671982679663827	0.468
18	61652317	T	A	18	63985083	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.952766476990115	0.566
18	61652317	T	C	18	63985083	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0501753759832864	0.198
18	61652317	T	G	18	63985083	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.575980377408444	0.59
18	61652318	T	A	18	63985084	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0538485214332817	0.348
18	61652318	T	C	18	63985084	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.51907009025935E-4	0.018
18	61652318	T	G	18	63985084	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0242871102978226	0.28
18	61652319	T	A	18	63985085	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00790895412527881	0.152
18	61652319	T	C	18	63985085	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.71198718683689E-5	0.0
18	61652319	T	G	18	63985085	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00111601769685286	0.154
18	61652320	C	A	18	63985086	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.003977898571193	0.054
18	61652320	C	G	18	63985086	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.37270848013557E-4	0.044
18	61652320	C	T	18	63985086	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.34397448185086E-5	0.0
18	61652321	C	A	18	63985087	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.9968145327726	0.818
18	61652321	C	G	18	63985087	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.00261820729185E-4	0.15
18	61652321	C	T	18	63985087	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.2072340422036E-5	0.0
18	61652322	G	A	18	63985088	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.74155671570223E-5	0.002
18	61652322	G	C	18	63985088	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.87998016647132E-5	0.01
18	61652322	G	T	18	63985088	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.87998016647132E-5	0.008
18	61652323	T	A	18	63985089	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.17698187209393E-5	0.0
18	61652323	T	C	18	63985089	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.18473894394471E-5	0.008
18	61652323	T	G	18	63985089	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.81932634475022E-4	0.026
18	61652324	T	A	18	63985090	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0286678240620767	0.338
18	61652324	T	C	18	63985090	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.02672258870725E-4	0.0
18	61652324	T	G	18	63985090	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.95489504277764	0.71
18	61652325	A	C	18	63985091	y	y	splicing	SERPINB8(NM_001276490:exon5:c.22-2A>C;NM_002640:exon6:c.568-2A>C;NM_198833:exon6:c.568-2A>C;NM_001031848:exon6:c.568-2A>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.568-2A>C;ENST00000353706:exon6:c.568-2A>C;ENST00000542677:exon5:c.22-2A>C;ENST00000397988:exon6:c.568-2A>C;ENST00000295211:exon4:c.393-2A>C)	.	.	0.999988247793601	0.916
18	61652325	A	G	18	63985091	y	y	splicing	SERPINB8(NM_001276490:exon5:c.22-2A>G;NM_002640:exon6:c.568-2A>G;NM_198833:exon6:c.568-2A>G;NM_001031848:exon6:c.568-2A>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.568-2A>G;ENST00000353706:exon6:c.568-2A>G;ENST00000542677:exon5:c.22-2A>G;ENST00000397988:exon6:c.568-2A>G;ENST00000295211:exon4:c.393-2A>G)	.	.	0.999988247793601	0.916
18	61652325	A	T	18	63985091	y	y	splicing	SERPINB8(NM_001276490:exon5:c.22-2A>T;NM_002640:exon6:c.568-2A>T;NM_198833:exon6:c.568-2A>T;NM_001031848:exon6:c.568-2A>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.568-2A>T;ENST00000353706:exon6:c.568-2A>T;ENST00000542677:exon5:c.22-2A>T;ENST00000397988:exon6:c.568-2A>T;ENST00000295211:exon4:c.393-2A>T)	.	.	0.999988247793601	0.916
18	61652326	G	A	18	63985092	y	y	splicing	SERPINB8(NM_001276490:exon5:c.22-1G>A;NM_002640:exon6:c.568-1G>A;NM_198833:exon6:c.568-1G>A;NM_001031848:exon6:c.568-1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.568-1G>A;ENST00000353706:exon6:c.568-1G>A;ENST00000542677:exon5:c.22-1G>A;ENST00000397988:exon6:c.568-1G>A;ENST00000295211:exon4:c.393-1G>A)	.	.	0.99995545544995	0.924
18	61652326	G	C	18	63985092	y	y	splicing	SERPINB8(NM_001276490:exon5:c.22-1G>C;NM_002640:exon6:c.568-1G>C;NM_198833:exon6:c.568-1G>C;NM_001031848:exon6:c.568-1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.568-1G>C;ENST00000353706:exon6:c.568-1G>C;ENST00000542677:exon5:c.22-1G>C;ENST00000397988:exon6:c.568-1G>C;ENST00000295211:exon4:c.393-1G>C)	.	.	0.99995545544995	0.934
18	61652326	G	T	18	63985092	y	y	splicing	SERPINB8(NM_001276490:exon5:c.22-1G>T;NM_002640:exon6:c.568-1G>T;NM_198833:exon6:c.568-1G>T;NM_001031848:exon6:c.568-1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.568-1G>T;ENST00000353706:exon6:c.568-1G>T;ENST00000542677:exon5:c.22-1G>T;ENST00000397988:exon6:c.568-1G>T;ENST00000295211:exon4:c.393-1G>T)	.	.	0.99995545544995	0.93
18	61652327	G	A	18	63985093	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.G568A:p.E190K;SERPINB8:NM_001276490:exon5:c.G22A:p.E8K;SERPINB8:NM_002640:exon6:c.G568A:p.E190K;SERPINB8:NM_198833:exon6:c.G568A:p.E190K;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.G22A:p.E8K;ENSG00000166401:ENST00000397988:exon6:c.G568A:p.E190K;ENSG00000166401:ENST00000353706:exon6:c.G568A:p.E190K;ENSG00000166401:ENST00000397985:exon6:c.G568A:p.E190K;	0.993509559849834	0.794
18	61652327	G	C	18	63985093	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.G568C:p.E190Q;SERPINB8:NM_001276490:exon5:c.G22C:p.E8Q;SERPINB8:NM_002640:exon6:c.G568C:p.E190Q;SERPINB8:NM_198833:exon6:c.G568C:p.E190Q;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.G22C:p.E8Q;ENSG00000166401:ENST00000397988:exon6:c.G568C:p.E190Q;ENSG00000166401:ENST00000353706:exon6:c.G568C:p.E190Q;ENSG00000166401:ENST00000397985:exon6:c.G568C:p.E190Q;	0.999430890973371	0.942
18	61652327	G	T	18	63985093	y	y	exonic	SERPINB8	stopgain SNV	SERPINB8:NM_001031848:exon6:c.G568T:p.E190X;SERPINB8:NM_001276490:exon5:c.G22T:p.E8X;SERPINB8:NM_002640:exon6:c.G568T:p.E190X;SERPINB8:NM_198833:exon6:c.G568T:p.E190X;	exonic	ENSG00000166401	stopgain SNV	ENSG00000166401:ENST00000542677:exon5:c.G22T:p.E8X;ENSG00000166401:ENST00000397988:exon6:c.G568T:p.E190X;ENSG00000166401:ENST00000353706:exon6:c.G568T:p.E190X;ENSG00000166401:ENST00000397985:exon6:c.G568T:p.E190X;	0.999641051280277	0.974
18	61652328	A	C	18	63985094	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.A569C:p.E190A;SERPINB8:NM_001276490:exon5:c.A23C:p.E8A;SERPINB8:NM_002640:exon6:c.A569C:p.E190A;SERPINB8:NM_198833:exon6:c.A569C:p.E190A;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.A23C:p.E8A;ENSG00000166401:ENST00000397988:exon6:c.A569C:p.E190A;ENSG00000166401:ENST00000353706:exon6:c.A569C:p.E190A;ENSG00000166401:ENST00000397985:exon6:c.A569C:p.E190A;	0.00101953587506063	0.138
18	61652328	A	G	18	63985094	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.A569G:p.E190G;SERPINB8:NM_001276490:exon5:c.A23G:p.E8G;SERPINB8:NM_002640:exon6:c.A569G:p.E190G;SERPINB8:NM_198833:exon6:c.A569G:p.E190G;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.A23G:p.E8G;ENSG00000166401:ENST00000397988:exon6:c.A569G:p.E190G;ENSG00000166401:ENST00000353706:exon6:c.A569G:p.E190G;ENSG00000166401:ENST00000397985:exon6:c.A569G:p.E190G;	2.14089041957484E-4	0.056
18	61652328	A	T	18	63985094	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.A569T:p.E190V;SERPINB8:NM_001276490:exon5:c.A23T:p.E8V;SERPINB8:NM_002640:exon6:c.A569T:p.E190V;SERPINB8:NM_198833:exon6:c.A569T:p.E190V;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.A23T:p.E8V;ENSG00000166401:ENST00000397988:exon6:c.A569T:p.E190V;ENSG00000166401:ENST00000353706:exon6:c.A569T:p.E190V;ENSG00000166401:ENST00000397985:exon6:c.A569T:p.E190V;	3.91086011242346E-4	0.084
18	61652477	G	A	18	63985243	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.G718A:p.V240M;SERPINB8:NM_001276490:exon5:c.G172A:p.V58M;SERPINB8:NM_002640:exon6:c.G718A:p.V240M;SERPINB8:NM_198833:exon6:c.G718A:p.V240M;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.G172A:p.V58M;ENSG00000166401:ENST00000397988:exon6:c.G718A:p.V240M;ENSG00000166401:ENST00000353706:exon6:c.G718A:p.V240M;ENSG00000166401:ENST00000397985:exon6:c.G718A:p.V240M;	1.11969045084058E-5	0.004
18	61652477	G	C	18	63985243	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.G718C:p.V240L;SERPINB8:NM_001276490:exon5:c.G172C:p.V58L;SERPINB8:NM_002640:exon6:c.G718C:p.V240L;SERPINB8:NM_198833:exon6:c.G718C:p.V240L;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.G172C:p.V58L;ENSG00000166401:ENST00000397988:exon6:c.G718C:p.V240L;ENSG00000166401:ENST00000353706:exon6:c.G718C:p.V240L;ENSG00000166401:ENST00000397985:exon6:c.G718C:p.V240L;	1.12643458492262E-5	0.01
18	61652477	G	T	18	63985243	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.G718T:p.V240L;SERPINB8:NM_001276490:exon5:c.G172T:p.V58L;SERPINB8:NM_002640:exon6:c.G718T:p.V240L;SERPINB8:NM_198833:exon6:c.G718T:p.V240L;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.G172T:p.V58L;ENSG00000166401:ENST00000397988:exon6:c.G718T:p.V240L;ENSG00000166401:ENST00000353706:exon6:c.G718T:p.V240L;ENSG00000166401:ENST00000397985:exon6:c.G718T:p.V240L;	1.15862807969344E-4	0.008
18	61652478	T	A	18	63985244	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.T719A:p.V240E;SERPINB8:NM_001276490:exon5:c.T173A:p.V58E;SERPINB8:NM_002640:exon6:c.T719A:p.V240E;SERPINB8:NM_198833:exon6:c.T719A:p.V240E;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.T173A:p.V58E;ENSG00000166401:ENST00000397988:exon6:c.T719A:p.V240E;ENSG00000166401:ENST00000353706:exon6:c.T719A:p.V240E;ENSG00000166401:ENST00000397985:exon6:c.T719A:p.V240E;	4.92310069865753E-5	0.056
18	61652478	T	C	18	63985244	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.T719C:p.V240A;SERPINB8:NM_001276490:exon5:c.T173C:p.V58A;SERPINB8:NM_002640:exon6:c.T719C:p.V240A;SERPINB8:NM_198833:exon6:c.T719C:p.V240A;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.T173C:p.V58A;ENSG00000166401:ENST00000397988:exon6:c.T719C:p.V240A;ENSG00000166401:ENST00000353706:exon6:c.T719C:p.V240A;ENSG00000166401:ENST00000397985:exon6:c.T719C:p.V240A;	5.54964092431284E-5	0.0
18	61652478	T	G	18	63985244	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon6:c.T719G:p.V240G;SERPINB8:NM_001276490:exon5:c.T173G:p.V58G;SERPINB8:NM_002640:exon6:c.T719G:p.V240G;SERPINB8:NM_198833:exon6:c.T719G:p.V240G;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.T173G:p.V58G;ENSG00000166401:ENST00000397988:exon6:c.T719G:p.V240G;ENSG00000166401:ENST00000353706:exon6:c.T719G:p.V240G;ENSG00000166401:ENST00000397985:exon6:c.T719G:p.V240G;	1.30193884794399E-4	0.008
18	61652479	G	A	18	63985245	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon6:c.G720A:p.V240V;SERPINB8:NM_001276490:exon5:c.G174A:p.V58V;SERPINB8:NM_002640:exon6:c.G720A:p.V240V;SERPINB8:NM_198833:exon6:c.G720A:p.V240V;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.G174A:p.V58V;ENSG00000166401:ENST00000397988:exon6:c.G720A:p.V240V;ENSG00000166401:ENST00000353706:exon6:c.G720A:p.V240V;ENSG00000166401:ENST00000397985:exon6:c.G720A:p.V240V;	0.99975659625649	0.986
18	61652479	G	C	18	63985245	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon6:c.G720C:p.V240V;SERPINB8:NM_001276490:exon5:c.G174C:p.V58V;SERPINB8:NM_002640:exon6:c.G720C:p.V240V;SERPINB8:NM_198833:exon6:c.G720C:p.V240V;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.G174C:p.V58V;ENSG00000166401:ENST00000397988:exon6:c.G720C:p.V240V;ENSG00000166401:ENST00000353706:exon6:c.G720C:p.V240V;ENSG00000166401:ENST00000397985:exon6:c.G720C:p.V240V;	0.999976342137255	0.874
18	61652479	G	T	18	63985245	y	y	exonic	SERPINB8	synonymous SNV	SERPINB8:NM_001031848:exon6:c.G720T:p.V240V;SERPINB8:NM_001276490:exon5:c.G174T:p.V58V;SERPINB8:NM_002640:exon6:c.G720T:p.V240V;SERPINB8:NM_198833:exon6:c.G720T:p.V240V;	exonic	ENSG00000166401	synonymous SNV	ENSG00000166401:ENST00000542677:exon5:c.G174T:p.V58V;ENSG00000166401:ENST00000397988:exon6:c.G720T:p.V240V;ENSG00000166401:ENST00000353706:exon6:c.G720T:p.V240V;ENSG00000166401:ENST00000397985:exon6:c.G720T:p.V240V;	0.999906269539636	0.966
18	61652480	G	A	18	63985246	y	y	splicing	SERPINB8(NM_001276490:exon5:c.174+1G>A;NM_002640:exon6:c.720+1G>A;NM_198833:exon6:c.720+1G>A;NM_001031848:exon6:c.720+1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.720+1G>A;ENST00000353706:exon6:c.720+1G>A;ENST00000542677:exon5:c.174+1G>A;ENST00000397988:exon6:c.720+1G>A;ENST00000295211:exon4:c.545+1G>A)	.	.	0.999969242257053	0.87
18	61652480	G	C	18	63985246	y	y	splicing	SERPINB8(NM_001276490:exon5:c.174+1G>C;NM_002640:exon6:c.720+1G>C;NM_198833:exon6:c.720+1G>C;NM_001031848:exon6:c.720+1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.720+1G>C;ENST00000353706:exon6:c.720+1G>C;ENST00000542677:exon5:c.174+1G>C;ENST00000397988:exon6:c.720+1G>C;ENST00000295211:exon4:c.545+1G>C)	.	.	0.999965143305126	0.862
18	61652480	G	T	18	63985246	y	y	splicing	SERPINB8(NM_001276490:exon5:c.174+1G>T;NM_002640:exon6:c.720+1G>T;NM_198833:exon6:c.720+1G>T;NM_001031848:exon6:c.720+1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.720+1G>T;ENST00000353706:exon6:c.720+1G>T;ENST00000542677:exon5:c.174+1G>T;ENST00000397988:exon6:c.720+1G>T;ENST00000295211:exon4:c.545+1G>T)	.	.	0.999968430223941	0.86
18	61652481	T	A	18	63985247	y	y	splicing	SERPINB8(NM_001276490:exon5:c.174+2T>A;NM_002640:exon6:c.720+2T>A;NM_198833:exon6:c.720+2T>A;NM_001031848:exon6:c.720+2T>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.720+2T>A;ENST00000353706:exon6:c.720+2T>A;ENST00000542677:exon5:c.174+2T>A;ENST00000397988:exon6:c.720+2T>A;ENST00000295211:exon4:c.545+2T>A)	.	.	0.998546023726818	0.63
18	61652481	T	C	18	63985247	y	y	splicing	SERPINB8(NM_001276490:exon5:c.174+2T>C;NM_002640:exon6:c.720+2T>C;NM_198833:exon6:c.720+2T>C;NM_001031848:exon6:c.720+2T>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.720+2T>C;ENST00000353706:exon6:c.720+2T>C;ENST00000542677:exon5:c.174+2T>C;ENST00000397988:exon6:c.720+2T>C;ENST00000295211:exon4:c.545+2T>C)	.	.	0.994366704508589	0.686
18	61652481	T	G	18	63985247	y	y	splicing	SERPINB8(NM_001276490:exon5:c.174+2T>G;NM_002640:exon6:c.720+2T>G;NM_198833:exon6:c.720+2T>G;NM_001031848:exon6:c.720+2T>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon6:c.720+2T>G;ENST00000353706:exon6:c.720+2T>G;ENST00000542677:exon5:c.174+2T>G;ENST00000397988:exon6:c.720+2T>G;ENST00000295211:exon4:c.545+2T>G)	.	.	0.999224468236409	0.606
18	61652482	A	C	18	63985248	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.988328350751657	0.644
18	61652482	A	G	18	63985248	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00183654315202781	0.1
18	61652482	A	T	18	63985248	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.979036485432496	0.64
18	61652483	A	C	18	63985249	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.796486692003303	0.486
18	61652483	A	G	18	63985249	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.877305968219362	0.716
18	61652483	A	T	18	63985249	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.82717626952394	0.6
18	61652484	G	A	18	63985250	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.99976395670718	0.968
18	61652484	G	C	18	63985250	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.99924114641893	0.902
18	61652484	G	T	18	63985250	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.999835571865347	0.906
18	61652485	C	A	18	63985251	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.1144050997611E-5	0.008
18	61652485	C	G	18	63985251	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.49009068558909E-4	0.032
18	61652485	C	T	18	63985251	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.03605565311395E-5	0.008
18	61652486	T	A	18	63985252	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.29095927746637E-5	0.002
18	61652486	T	C	18	63985252	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.29095927746637E-5	0.002
18	61652486	T	G	18	63985252	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.29095927746637E-5	0.002
18	61652487	C	A	18	63985253	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.11932628162201E-5	0.0
18	61652487	C	G	18	63985253	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.11932628162201E-5	0.0
18	61652487	C	T	18	63985253	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	5.66954862234335E-5	0.0
18	61653480	A	C	18	63986246	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.78864525412067E-5	0.0
18	61653480	A	G	18	63986246	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.78864525412067E-5	0.0
18	61653480	A	T	18	63986246	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.08802802279601E-5	0.004
18	61653481	T	A	18	63986247	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.90028566392549E-5	0.004
18	61653481	T	C	18	63986247	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.552751562108E-5	0.006
18	61653481	T	G	18	63986247	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	6.552751562108E-5	0.006
18	61653482	T	A	18	63986248	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.14301101535901E-5	0.002
18	61653482	T	C	18	63986248	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.14301101535901E-5	0.002
18	61653482	T	G	18	63986248	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.14301101535901E-5	0.002
18	61653483	G	A	18	63986249	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.84397551808994E-5	0.006
18	61653483	G	C	18	63986249	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.77382407657072E-5	0.002
18	61653483	G	T	18	63986249	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.84397551808994E-5	0.008
18	61653484	A	C	18	63986250	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.41069364790736E-5	0.006
18	61653484	A	G	18	63986250	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.41069364790736E-5	0.006
18	61653484	A	T	18	63986250	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.41069364790736E-5	0.024
18	61653485	T	A	18	63986251	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.22788067510469E-5	0.0
18	61653485	T	C	18	63986251	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.22788067510469E-5	0.0
18	61653485	T	G	18	63986251	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.22788067510469E-5	0.0
18	61653486	A	C	18	63986252	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.07620641825897E-5	0.0
18	61653486	A	G	18	63986252	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.07620641825897E-5	0.0
18	61653486	A	T	18	63986252	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.31929338280547E-5	0.002
18	61653487	A	C	18	63986253	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.6128894829304E-5	0.006
18	61653487	A	G	18	63986253	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.6128894829304E-5	0.006
18	61653487	A	T	18	63986253	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.6128894829304E-5	0.004
18	61653488	A	C	18	63986254	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.78205327723092E-5	0.006
18	61653488	A	G	18	63986254	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.78205327723092E-5	0.006
18	61653488	A	T	18	63986254	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.82827935381688E-5	0.016
18	61653489	T	A	18	63986255	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.48519371611462E-5	0.0
18	61653489	T	C	18	63986255	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.48519371611462E-5	0.0
18	61653489	T	G	18	63986255	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.48519371611462E-5	0.0
18	61653490	A	C	18	63986256	y	y	splicing	SERPINB8(NM_001031848:exon7:c.721-2A>C)	.	.	splicing	ENSG00000166401(ENST00000397988:exon7:c.721-2A>C)	.	.	3.31929338280547E-5	0.002
18	61653490	A	G	18	63986256	y	y	splicing	SERPINB8(NM_001031848:exon7:c.721-2A>G)	.	.	splicing	ENSG00000166401(ENST00000397988:exon7:c.721-2A>G)	.	.	3.31929338280547E-5	0.002
18	61653490	A	T	18	63986256	y	y	splicing	SERPINB8(NM_001031848:exon7:c.721-2A>T)	.	.	splicing	ENSG00000166401(ENST00000397988:exon7:c.721-2A>T)	.	.	3.78205327723092E-5	0.006
18	61653491	G	A	18	63986257	y	y	splicing	SERPINB8(NM_001031848:exon7:c.721-1G>A)	.	.	splicing	ENSG00000166401(ENST00000397988:exon7:c.721-1G>A)	.	.	1.80650664972837E-4	0.002
18	61653491	G	C	18	63986257	y	y	splicing	SERPINB8(NM_001031848:exon7:c.721-1G>C)	.	.	splicing	ENSG00000166401(ENST00000397988:exon7:c.721-1G>C)	.	.	1.80650664972837E-4	0.008
18	61653491	G	T	18	63986257	y	y	splicing	SERPINB8(NM_001031848:exon7:c.721-1G>T)	.	.	splicing	ENSG00000166401(ENST00000397988:exon7:c.721-1G>T)	.	.	1.80650664972837E-4	0.002
18	61653492	A	C	18	63986258	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon7:c.A721C:p.K241Q;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon7:c.A721C:p.K241Q;	1.53906294760088E-4	0.002
18	61653492	A	G	18	63986258	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon7:c.A721G:p.K241E;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon7:c.A721G:p.K241E;	1.10412963666868E-4	0.0
18	61653492	A	T	18	63986258	y	y	exonic	SERPINB8	stopgain SNV	SERPINB8:NM_001031848:exon7:c.A721T:p.K241X;	exonic	ENSG00000166401	stopgain SNV	ENSG00000166401:ENST00000397988:exon7:c.A721T:p.K241X;	9.87038873848594E-5	0.048
18	61653493	A	C	18	63986259	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon7:c.A722C:p.K241T;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon7:c.A722C:p.K241T;	9.3797186435366E-5	0.0
18	61653493	A	G	18	63986259	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon7:c.A722G:p.K241R;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon7:c.A722G:p.K241R;	1.55218724578763E-4	0.008
18	61653493	A	T	18	63986259	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001031848:exon7:c.A722T:p.K241I;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000397988:exon7:c.A722T:p.K241I;	1.53558845847488E-4	0.0
18	61654096	T	A	18	63986862	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.3531263689714E-4	0.044
18	61654096	T	C	18	63986862	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.67049033970745E-5	0.0
18	61654096	T	G	18	63986862	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.2606094921922E-4	0.104
18	61654097	T	A	18	63986863	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00171963450919404	0.206
18	61654097	T	C	18	63986863	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.25959414125008E-5	0.046
18	61654097	T	G	18	63986863	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.33278484294459E-4	0.158
18	61654098	C	A	18	63986864	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.36798797183019E-4	0.034
18	61654098	C	G	18	63986864	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.36798797183019E-4	0.038
18	61654098	C	T	18	63986864	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.50189971163244E-5	0.0
18	61654099	T	A	18	63986865	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0012126272671535	0.116
18	61654099	T	C	18	63986865	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.27118137951686E-4	0.0
18	61654099	T	G	18	63986865	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00124437299140257	0.146
18	61654100	T	A	18	63986866	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.33532737306736E-4	0.02
18	61654100	T	C	18	63986866	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.47613272643563E-5	0.0
18	61654100	T	G	18	63986866	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.72951166469823E-4	0.052
18	61654101	A	C	18	63986867	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.18952618090623E-5	0.002
18	61654101	A	G	18	63986867	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	7.34428570290872E-5	0.064
18	61654101	A	T	18	63986867	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.94470744681654E-5	0.0
18	61654102	T	A	18	63986868	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.00139367712515197	0.046
18	61654102	T	C	18	63986868	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	8.12795949523898E-5	0.002
18	61654102	T	G	18	63986868	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.998212024581187	0.976
18	61654103	C	A	18	63986869	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.63535002777946E-4	0.016
18	61654103	C	G	18	63986869	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	2.19753712682434E-4	0.038
18	61654103	C	T	18	63986869	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	1.09555574239056E-5	0.0
18	61654104	C	A	18	63986870	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.16881499689394E-5	0.0
18	61654104	C	G	18	63986870	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.95928501592286E-5	0.0
18	61654104	C	T	18	63986870	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	3.42260193335903E-5	0.0
18	61654105	T	A	18	63986871	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.0414220346645937	0.232
18	61654105	T	C	18	63986871	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	4.20308200190524E-5	0.008
18	61654105	T	G	18	63986871	y	y	intronic	SERPINB8	.	.	intronic	ENSG00000166401	.	.	0.725453453491276	0.608
18	61654106	A	C	18	63986872	y	y	splicing	SERPINB8(NM_001276490:exon6:c.175-2A>C;NM_002640:exon7:c.721-2A>C;NM_198833:exon7:c.721-2A>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon7:c.721-2A>C;ENST00000353706:exon7:c.721-2A>C;ENST00000542677:exon6:c.175-2A>C)	.	.	0.999962958601995	0.814
18	61654106	A	G	18	63986872	y	y	splicing	SERPINB8(NM_001276490:exon6:c.175-2A>G;NM_002640:exon7:c.721-2A>G;NM_198833:exon7:c.721-2A>G)	.	.	splicing	ENSG00000166401(ENST00000397985:exon7:c.721-2A>G;ENST00000353706:exon7:c.721-2A>G;ENST00000542677:exon6:c.175-2A>G)	.	.	0.999962958601995	0.806
18	61654106	A	T	18	63986872	y	y	splicing	SERPINB8(NM_001276490:exon6:c.175-2A>T;NM_002640:exon7:c.721-2A>T;NM_198833:exon7:c.721-2A>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon7:c.721-2A>T;ENST00000353706:exon7:c.721-2A>T;ENST00000542677:exon6:c.175-2A>T)	.	.	0.999969712949741	0.852
18	61654107	G	A	18	63986873	y	y	splicing	SERPINB8(NM_001276490:exon6:c.175-1G>A;NM_002640:exon7:c.721-1G>A;NM_198833:exon7:c.721-1G>A)	.	.	splicing	ENSG00000166401(ENST00000397985:exon7:c.721-1G>A;ENST00000353706:exon7:c.721-1G>A;ENST00000542677:exon6:c.175-1G>A)	.	.	0.999977162774916	0.87
18	61654107	G	C	18	63986873	y	y	splicing	SERPINB8(NM_001276490:exon6:c.175-1G>C;NM_002640:exon7:c.721-1G>C;NM_198833:exon7:c.721-1G>C)	.	.	splicing	ENSG00000166401(ENST00000397985:exon7:c.721-1G>C;ENST00000353706:exon7:c.721-1G>C;ENST00000542677:exon6:c.175-1G>C)	.	.	0.999974785031454	0.878
18	61654107	G	T	18	63986873	y	y	splicing	SERPINB8(NM_001276490:exon6:c.175-1G>T;NM_002640:exon7:c.721-1G>T;NM_198833:exon7:c.721-1G>T)	.	.	splicing	ENSG00000166401(ENST00000397985:exon7:c.721-1G>T;ENST00000353706:exon7:c.721-1G>T;ENST00000542677:exon6:c.175-1G>T)	.	.	0.999977162774916	0.884
18	61654108	G	A	18	63986874	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001276490:exon6:c.G175A:p.V59M;SERPINB8:NM_002640:exon7:c.G721A:p.V241M;SERPINB8:NM_198833:exon7:c.G721A:p.V241M;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon6:c.G175A:p.V59M;ENSG00000166401:ENST00000353706:exon7:c.G721A:p.V241M;ENSG00000166401:ENST00000397985:exon7:c.G721A:p.V241M;	0.0187178563546782	0.156
18	61654108	G	C	18	63986874	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001276490:exon6:c.G175C:p.V59L;SERPINB8:NM_002640:exon7:c.G721C:p.V241L;SERPINB8:NM_198833:exon7:c.G721C:p.V241L;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon6:c.G175C:p.V59L;ENSG00000166401:ENST00000353706:exon7:c.G721C:p.V241L;ENSG00000166401:ENST00000397985:exon7:c.G721C:p.V241L;	0.122565467956839	0.344
18	61654108	G	T	18	63986874	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001276490:exon6:c.G175T:p.V59L;SERPINB8:NM_002640:exon7:c.G721T:p.V241L;SERPINB8:NM_198833:exon7:c.G721T:p.V241L;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon6:c.G175T:p.V59L;ENSG00000166401:ENST00000353706:exon7:c.G721T:p.V241L;ENSG00000166401:ENST00000397985:exon7:c.G721T:p.V241L;	0.441273380554076	0.434
18	61654109	T	A	18	63986875	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001276490:exon6:c.T176A:p.V59E;SERPINB8:NM_002640:exon7:c.T722A:p.V241E;SERPINB8:NM_198833:exon7:c.T722A:p.V241E;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon6:c.T176A:p.V59E;ENSG00000166401:ENST00000353706:exon7:c.T722A:p.V241E;ENSG00000166401:ENST00000397985:exon7:c.T722A:p.V241E;	0.567508661805536	0.566
18	61654109	T	C	18	63986875	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001276490:exon6:c.T176C:p.V59A;SERPINB8:NM_002640:exon7:c.T722C:p.V241A;SERPINB8:NM_198833:exon7:c.T722C:p.V241A;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon6:c.T176C:p.V59A;ENSG00000166401:ENST00000353706:exon7:c.T722C:p.V241A;ENSG00000166401:ENST00000397985:exon7:c.T722C:p.V241A;	0.567157084139763	0.552
18	61654109	T	G	18	63986875	y	y	exonic	SERPINB8	nonsynonymous SNV	SERPINB8:NM_001276490:exon6:c.T176G:p.V59G;SERPINB8:NM_002640:exon7:c.T722G:p.V241G;SERPINB8:NM_198833:exon7:c.T722G:p.V241G;	exonic	ENSG00000166401	nonsynonymous SNV	ENSG00000166401:ENST00000542677:exon6:c.T176G:p.V59G;ENSG00000166401:ENST00000353706:exon7:c.T722G:p.V241G;ENSG00000166401:ENST00000397985:exon7:c.T722G:p.V241G;	0.504196106704884	0.556
18	63417614	A	C	18	65750378	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	1.86678723866873E-4	0.016
18	63417614	A	G	18	65750378	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	1.86678723866873E-4	0.018
18	63417614	A	T	18	65750378	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	1.86678723866873E-4	0.082
18	63417615	A	C	18	65750379	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	7.01315188657279E-5	0.002
18	63417615	A	G	18	65750379	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	7.01315188657279E-5	0.002
18	63417615	A	T	18	65750379	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	1.00796321454825E-4	0.002
18	63417616	G	A	18	65750380	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.00209813783677655	0.014
18	63417616	G	C	18	65750380	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.00141498944421688	0.012
18	63417616	G	T	18	65750380	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.00209813783677655	0.014
18	63417617	G	A	18	65750381	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	4.22800136258938E-5	0.038
18	63417617	G	C	18	65750381	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	4.22800136258938E-5	0.038
18	63417617	G	T	18	65750381	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	4.22800136258938E-5	0.038
18	63417618	T	A	18	65750382	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	1.10275622159801E-5	0.0
18	63417618	T	C	18	65750382	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	1.10275622159801E-5	0.0
18	63417618	T	G	18	65750382	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	1.10275622159801E-5	0.0
18	63417619	G	A	18	65750383	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.69171314780076E-4	0.002
18	63417619	G	C	18	65750383	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.03334260509943E-4	0.0
18	63417619	G	T	18	65750383	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.39226293343871E-4	0.008
18	63417620	G	A	18	65750384	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.18924664478357E-5	0.0
18	63417620	G	C	18	65750384	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.51383879749987E-5	0.0
18	63417620	G	T	18	65750384	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.18924664478357E-5	0.0
18	63417621	G	A	18	65750385	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.30945796578933E-5	0.0
18	63417621	G	C	18	65750385	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.30945796578933E-5	0.004
18	63417621	G	T	18	65750385	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.30945796578933E-5	0.0
18	63417622	T	A	18	65750386	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.20713018245989E-4	0.002
18	63417622	T	C	18	65750386	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.96737020304725E-5	0.002
18	63417622	T	G	18	65750386	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.96737020304725E-5	0.002
18	63417623	G	A	18	65750387	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.12051756480288E-5	0.0
18	63417623	G	C	18	65750387	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.12051756480288E-5	0.0
18	63417623	G	T	18	65750387	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.12051756480288E-5	0.0
18	63417624	T	A	18	65750388	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.58255349957421E-5	0.002
18	63417624	T	C	18	65750388	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.58255349957421E-5	0.002
18	63417624	T	G	18	65750388	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.58255349957421E-5	0.002
18	63418384	C	A	18	65751148	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.199155146642592	0.53
18	63418384	C	G	18	65751148	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.111486565310575	0.312
18	63418384	C	T	18	65751148	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.940548057313249	0.496
18	63418385	A	C	18	65751149	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.962413527923348	0.8
18	63418385	A	G	18	65751149	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.967689459157738	0.918
18	63418385	A	T	18	65751149	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.947734346702742	0.758
18	63418386	G	A	18	65751150	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.985641746152373	0.886
18	63418386	G	C	18	65751150	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.997753907210567	0.906
18	63418386	G	T	18	65751150	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.99163701848096	0.816
18	63418387	G	A	18	65751151	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999988568935494	0.93
18	63418387	G	C	18	65751151	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999988568935494	0.93
18	63418387	G	T	18	65751151	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999988568935494	0.93
18	63418388	T	A	18	65751152	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999990155693597	0.926
18	63418388	T	C	18	65751152	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999928972209748	0.862
18	63418388	T	G	18	65751152	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999990155693597	0.926
18	63418389	G	A	18	65751153	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00324401134460497	0.064
18	63418389	G	C	18	65751153	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.920818676073562	0.662
18	63418389	G	T	18	65751153	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.91964012666447	0.656
18	63418390	A	C	18	65751154	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.940199308434529	0.786
18	63418390	A	G	18	65751154	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.995774959630153	0.848
18	63418390	A	T	18	65751154	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.995575464874355	0.834
18	63418391	G	A	18	65751155	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999021705683689	0.904
18	63418391	G	C	18	65751155	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.996719281029015	0.888
18	63418391	G	T	18	65751155	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999176771073609	0.914
18	63418392	T	A	18	65751156	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.511929383820055	0.468
18	63418392	T	C	18	65751156	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.515516400388847	0.38
18	63418392	T	G	18	65751156	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.232170564875587	0.252
18	63418393	G	A	18	65751157	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.47547001904529E-4	0.006
18	63418393	G	C	18	65751157	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.30689080844437E-4	0.008
18	63418393	G	T	18	65751157	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.43930071245014E-4	0.004
18	63418394	T	A	18	65751158	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.12581597765867E-4	0.004
18	63418394	T	C	18	65751158	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.12581597765867E-4	0.0
18	63418394	T	G	18	65751158	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.1365987394554E-4	0.0
18	63429871	T	A	18	65762635	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0138012717300231	0.37
18	63429871	T	C	18	65762635	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.12305163333689E-5	0.01
18	63429871	T	G	18	65762635	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00386343657998577	0.372
18	63429872	T	A	18	65762636	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999896759547779	0.934
18	63429872	T	C	18	65762636	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0085251424726855	0.174
18	63429872	T	G	18	65762636	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.601591735303745	0.64
18	63429873	G	A	18	65762637	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.21398747273447E-4	0.042
18	63429873	G	C	18	65762637	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.828361789755E-4	0.002
18	63429873	G	T	18	65762637	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.27313982527594E-4	0.006
18	63429874	T	A	18	65762638	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.609491492793606	0.578
18	63429874	T	C	18	65762638	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.16314502420304E-4	0.018
18	63429874	T	G	18	65762638	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0935922711842817	0.47
18	63429875	T	A	18	65762639	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0111245624030649	0.242
18	63429875	T	C	18	65762639	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.33216825376431E-4	0.0
18	63429875	T	G	18	65762639	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00269842343476001	0.234
18	63429876	C	A	18	65762640	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0111064130823848	0.188
18	63429876	C	G	18	65762640	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00380474344342809	0.122
18	63429876	C	T	18	65762640	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.66244031606988E-4	0.002
18	63429877	T	A	18	65762641	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999744526245634	0.968
18	63429877	T	C	18	65762641	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.42296599627361E-4	0.002
18	63429877	T	G	18	65762641	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0710258410479239	0.41
18	63429878	G	A	18	65762642	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.93858864984347E-5	0.01
18	63429878	G	C	18	65762642	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.36119688170782E-5	0.01
18	63429878	G	T	18	65762642	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.60104270014241E-5	0.002
18	63429879	A	C	18	65762643	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.22647539468056E-5	0.002
18	63429879	A	G	18	65762643	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.61442716477136E-4	0.008
18	63429879	A	T	18	65762643	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.06749050334476E-4	0.008
18	63429880	T	A	18	65762644	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00328415999452005	0.168
18	63429880	T	C	18	65762644	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.02725442732846E-4	0.012
18	63429880	T	G	18	65762644	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.984265112049297	0.672
18	63429881	A	C	18	65762645	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999988247793601	0.928
18	63429881	A	G	18	65762645	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999988247793601	0.918
18	63429881	A	T	18	65762645	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999988247793601	0.93
18	63429882	G	A	18	65762646	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999990361384395	0.936
18	63429882	G	C	18	65762646	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999990361384395	0.936
18	63429882	G	T	18	65762646	y	y	splicing	CDH7	.	.	splicing	ENSG00000081138	.	.	0.999990361384395	0.936
18	63429883	G	A	18	65762647	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.998243022173258	0.74
18	63429883	G	C	18	65762647	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.999138913912173	0.906
18	63429883	G	T	18	65762647	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	0.999348464574531	0.978
18	63429884	T	A	18	65762648	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	3.81845355484684E-4	0.076
18	63429884	T	C	18	65762648	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	2.89330766308911E-4	0.05
18	63429884	T	G	18	65762648	y	y	UTR5	CDH7	.	.	UTR5	ENSG00000081138	.	.	2.89330766308911E-4	0.034
18	63430286	A	C	18	65763050	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon2:c.A208C:p.K70Q;CDH7:NM_004361:exon2:c.A208C:p.K70Q;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon2:c.A208C:p.K70Q;ENSG00000081138:ENST00000397968:exon2:c.A208C:p.K70Q;ENSG00000081138:ENST00000323011:exon2:c.A208C:p.K70Q;	0.0307632144076706	0.286
18	63430286	A	G	18	65763050	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon2:c.A208G:p.K70E;CDH7:NM_004361:exon2:c.A208G:p.K70E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon2:c.A208G:p.K70E;ENSG00000081138:ENST00000397968:exon2:c.A208G:p.K70E;ENSG00000081138:ENST00000323011:exon2:c.A208G:p.K70E;	0.530033365498574	0.37
18	63430286	A	T	18	65763050	y	y	exonic	CDH7	stopgain SNV	CDH7:NM_033646:exon2:c.A208T:p.K70X;CDH7:NM_004361:exon2:c.A208T:p.K70X;	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon2:c.A208T:p.K70X;ENSG00000081138:ENST00000397968:exon2:c.A208T:p.K70X;ENSG00000081138:ENST00000323011:exon2:c.A208T:p.K70X;	0.991215283332105	0.756
18	63430287	A	C	18	65763051	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon2:c.A209C:p.K70T;CDH7:NM_004361:exon2:c.A209C:p.K70T;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon2:c.A209C:p.K70T;ENSG00000081138:ENST00000397968:exon2:c.A209C:p.K70T;ENSG00000081138:ENST00000323011:exon2:c.A209C:p.K70T;	0.999764812252622	0.966
18	63430287	A	G	18	65763051	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon2:c.A209G:p.K70R;CDH7:NM_004361:exon2:c.A209G:p.K70R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon2:c.A209G:p.K70R;ENSG00000081138:ENST00000397968:exon2:c.A209G:p.K70R;ENSG00000081138:ENST00000323011:exon2:c.A209G:p.K70R;	0.999954136378943	0.992
18	63430287	A	T	18	65763051	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon2:c.A209T:p.K70M;CDH7:NM_004361:exon2:c.A209T:p.K70M;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon2:c.A209T:p.K70M;ENSG00000081138:ENST00000397968:exon2:c.A209T:p.K70M;ENSG00000081138:ENST00000323011:exon2:c.A209T:p.K70M;	0.999940190495844	0.996
18	63430288	G	A	18	65763052	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon2:c.G210A:p.K70K;CDH7:NM_004361:exon2:c.G210A:p.K70K;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon2:c.G210A:p.K70K;ENSG00000081138:ENST00000397968:exon2:c.G210A:p.K70K;ENSG00000081138:ENST00000323011:exon2:c.G210A:p.K70K;	0.999874011773442	0.998
18	63430288	G	C	18	65763052	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon2:c.G210C:p.K70N;CDH7:NM_004361:exon2:c.G210C:p.K70N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon2:c.G210C:p.K70N;ENSG00000081138:ENST00000397968:exon2:c.G210C:p.K70N;ENSG00000081138:ENST00000323011:exon2:c.G210C:p.K70N;	0.999996883910292	1.0
18	63430288	G	T	18	65763052	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon2:c.G210T:p.K70N;CDH7:NM_004361:exon2:c.G210T:p.K70N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon2:c.G210T:p.K70N;ENSG00000081138:ENST00000397968:exon2:c.G210T:p.K70N;ENSG00000081138:ENST00000323011:exon2:c.G210T:p.K70N;	0.999977207487614	0.992
18	63430289	G	A	18	65763053	y	y	splicing	CDH7(NM_033646:exon2:c.210+1G>A;NM_004361:exon2:c.210+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon2:c.210+1G>A;ENST00000536984:exon2:c.210+1G>A;ENST00000397968:exon2:c.210+1G>A)	.	.	0.999981760802075	0.936
18	63430289	G	C	18	65763053	y	y	splicing	CDH7(NM_033646:exon2:c.210+1G>C;NM_004361:exon2:c.210+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon2:c.210+1G>C;ENST00000536984:exon2:c.210+1G>C;ENST00000397968:exon2:c.210+1G>C)	.	.	0.999981760802075	0.938
18	63430289	G	T	18	65763053	y	y	splicing	CDH7(NM_033646:exon2:c.210+1G>T;NM_004361:exon2:c.210+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon2:c.210+1G>T;ENST00000536984:exon2:c.210+1G>T;ENST00000397968:exon2:c.210+1G>T)	.	.	0.999981760802075	0.936
18	63430290	T	A	18	65763054	y	y	splicing	CDH7(NM_033646:exon2:c.210+2T>A;NM_004361:exon2:c.210+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon2:c.210+2T>A;ENST00000536984:exon2:c.210+2T>A;ENST00000397968:exon2:c.210+2T>A)	.	.	0.999988247793601	0.926
18	63430290	T	C	18	65763054	y	y	splicing	CDH7(NM_033646:exon2:c.210+2T>C;NM_004361:exon2:c.210+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon2:c.210+2T>C;ENST00000536984:exon2:c.210+2T>C;ENST00000397968:exon2:c.210+2T>C)	.	.	0.98918007292081	0.636
18	63430290	T	G	18	65763054	y	y	splicing	CDH7(NM_033646:exon2:c.210+2T>G;NM_004361:exon2:c.210+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon2:c.210+2T>G;ENST00000536984:exon2:c.210+2T>G;ENST00000397968:exon2:c.210+2T>G)	.	.	0.999988247793601	0.926
18	63430291	A	C	18	65763055	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.991567899566873	0.894
18	63430291	A	G	18	65763055	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.991275182814304	0.862
18	63430291	A	T	18	65763055	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998633177051027	0.93
18	63430292	G	A	18	65763056	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.01360148130214E-4	0.056
18	63430292	G	C	18	65763056	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.56743340772033E-4	0.09
18	63430292	G	T	18	65763056	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.81082204961054E-4	0.03
18	63430293	G	A	18	65763057	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.983095776322873	0.732
18	63430293	G	C	18	65763057	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.948205236406098	0.656
18	63430293	G	T	18	65763057	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.99955497468515	0.88
18	63430294	G	A	18	65763058	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.92478990935262E-4	0.068
18	63430294	G	C	18	65763058	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.65827354405167E-4	0.096
18	63430294	G	T	18	65763058	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.44330833604283E-4	0.004
18	63430295	T	A	18	65763059	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.37663760924477E-5	0.002
18	63430295	T	C	18	65763059	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.12004639248942E-5	0.0
18	63430295	T	G	18	65763059	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.12004639248942E-5	0.0
18	63430296	A	C	18	65763060	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.80904726675774E-5	0.006
18	63430296	A	G	18	65763060	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.80904726675774E-5	0.006
18	63430296	A	T	18	65763060	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.54389319431926E-5	0.002
18	63476928	A	C	18	65809692	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.743505482099424	0.586
18	63476928	A	G	18	65809692	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999844082346865	0.934
18	63476928	A	T	18	65809692	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.779023823235127	0.656
18	63476929	T	A	18	65809693	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999783653442008	0.944
18	63476929	T	C	18	65809693	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.995040368727952	0.74
18	63476929	T	G	18	65809693	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999985889219228	0.966
18	63476930	T	A	18	65809694	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999755342378006	0.962
18	63476930	T	C	18	65809694	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.754384419628748	0.472
18	63476930	T	G	18	65809694	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999221656060585	0.922
18	63476931	T	A	18	65809695	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999438851497938	0.93
18	63476931	T	C	18	65809695	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.946516481180724	0.534
18	63476931	T	G	18	65809695	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999682713977235	0.912
18	63476932	T	A	18	65809696	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0133913507920675	0.28
18	63476932	T	C	18	65809696	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.31583969941452E-4	0.002
18	63476932	T	G	18	65809696	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00754590411625626	0.3
18	63476933	T	A	18	65809697	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.997316769564124	0.952
18	63476933	T	C	18	65809697	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00458467176225275	0.104
18	63476933	T	G	18	65809697	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.98948282630376	0.86
18	63476934	C	A	18	65809698	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.988156680731611	0.854
18	63476934	C	G	18	65809698	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998235128656437	0.886
18	63476934	C	T	18	65809698	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.112387006690227	0.252
18	63476935	A	C	18	65809699	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.30051655704328E-4	0.034
18	63476935	A	G	18	65809699	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0126292108442392	0.118
18	63476935	A	T	18	65809699	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00130191085776684	0.052
18	63476936	C	A	18	65809700	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00153360250027885	0.15
18	63476936	C	G	18	65809700	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.946675964938666	0.544
18	63476936	C	T	18	65809700	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00347511254365957	0.184
18	63476937	C	A	18	65809701	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999798246034264	0.942
18	63476937	C	G	18	65809701	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.99997520610284	0.952
18	63476937	C	T	18	65809701	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.217967010898465	0.288
18	63476938	A	C	18	65809702	y	y	splicing	CDH7(NM_033646:exon3:c.211-2A>C;NM_004361:exon3:c.211-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.211-2A>C;ENST00000536984:exon3:c.211-2A>C;ENST00000397968:exon3:c.211-2A>C)	.	.	0.999986741007567	0.946
18	63476938	A	G	18	65809702	y	y	splicing	CDH7(NM_033646:exon3:c.211-2A>G;NM_004361:exon3:c.211-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.211-2A>G;ENST00000536984:exon3:c.211-2A>G;ENST00000397968:exon3:c.211-2A>G)	.	.	0.999986741007567	0.946
18	63476938	A	T	18	65809702	y	y	splicing	CDH7(NM_033646:exon3:c.211-2A>T;NM_004361:exon3:c.211-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.211-2A>T;ENST00000536984:exon3:c.211-2A>T;ENST00000397968:exon3:c.211-2A>T)	.	.	0.999986741007567	0.946
18	63476939	G	A	18	65809703	y	y	splicing	CDH7(NM_033646:exon3:c.211-1G>A;NM_004361:exon3:c.211-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.211-1G>A;ENST00000536984:exon3:c.211-1G>A;ENST00000397968:exon3:c.211-1G>A)	.	.	0.999989125585301	0.944
18	63476939	G	C	18	65809703	y	y	splicing	CDH7(NM_033646:exon3:c.211-1G>C;NM_004361:exon3:c.211-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.211-1G>C;ENST00000536984:exon3:c.211-1G>C;ENST00000397968:exon3:c.211-1G>C)	.	.	0.999989125585301	0.944
18	63476939	G	T	18	65809703	y	y	splicing	CDH7(NM_033646:exon3:c.211-1G>T;NM_004361:exon3:c.211-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.211-1G>T;ENST00000536984:exon3:c.211-1G>T;ENST00000397968:exon3:c.211-1G>T)	.	.	0.999989125585301	0.944
18	63476940	C	A	18	65809704	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.C211A:p.L71I;CDH7:NM_004361:exon3:c.C211A:p.L71I;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.C211A:p.L71I;ENSG00000081138:ENST00000397968:exon3:c.C211A:p.L71I;ENSG00000081138:ENST00000323011:exon3:c.C211A:p.L71I;	0.966309416790704	0.838
18	63476940	C	G	18	65809704	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.C211G:p.L71V;CDH7:NM_004361:exon3:c.C211G:p.L71V;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.C211G:p.L71V;ENSG00000081138:ENST00000397968:exon3:c.C211G:p.L71V;ENSG00000081138:ENST00000323011:exon3:c.C211G:p.L71V;	0.979057912346748	0.784
18	63476940	C	T	18	65809704	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.C211T:p.L71F;CDH7:NM_004361:exon3:c.C211T:p.L71F;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.C211T:p.L71F;ENSG00000081138:ENST00000397968:exon3:c.C211T:p.L71F;ENSG00000081138:ENST00000323011:exon3:c.C211T:p.L71F;	0.995677336318724	0.904
18	63476941	T	A	18	65809705	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.T212A:p.L71H;CDH7:NM_004361:exon3:c.T212A:p.L71H;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.T212A:p.L71H;ENSG00000081138:ENST00000397968:exon3:c.T212A:p.L71H;ENSG00000081138:ENST00000323011:exon3:c.T212A:p.L71H;	0.946967339794353	0.512
18	63476941	T	C	18	65809705	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.T212C:p.L71P;CDH7:NM_004361:exon3:c.T212C:p.L71P;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.T212C:p.L71P;ENSG00000081138:ENST00000397968:exon3:c.T212C:p.L71P;ENSG00000081138:ENST00000323011:exon3:c.T212C:p.L71P;	0.878332823242143	0.388
18	63476941	T	G	18	65809705	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.T212G:p.L71R;CDH7:NM_004361:exon3:c.T212G:p.L71R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.T212G:p.L71R;ENSG00000081138:ENST00000397968:exon3:c.T212G:p.L71R;ENSG00000081138:ENST00000323011:exon3:c.T212G:p.L71R;	0.878557263441395	0.484
18	63477232	T	A	18	65809996	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.T503A:p.V168E;CDH7:NM_004361:exon3:c.T503A:p.V168E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.T503A:p.V168E;ENSG00000081138:ENST00000397968:exon3:c.T503A:p.V168E;ENSG00000081138:ENST00000323011:exon3:c.T503A:p.V168E;	0.736952744862507	0.722
18	63477232	T	C	18	65809996	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.T503C:p.V168A;CDH7:NM_004361:exon3:c.T503C:p.V168A;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.T503C:p.V168A;ENSG00000081138:ENST00000397968:exon3:c.T503C:p.V168A;ENSG00000081138:ENST00000323011:exon3:c.T503C:p.V168A;	0.711782869828115	0.71
18	63477232	T	G	18	65809996	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.T503G:p.V168G;CDH7:NM_004361:exon3:c.T503G:p.V168G;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.T503G:p.V168G;ENSG00000081138:ENST00000397968:exon3:c.T503G:p.V168G;ENSG00000081138:ENST00000323011:exon3:c.T503G:p.V168G;	0.83521757567047	0.72
18	63477233	G	A	18	65809997	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon3:c.G504A:p.V168V;CDH7:NM_004361:exon3:c.G504A:p.V168V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.G504A:p.V168V;ENSG00000081138:ENST00000397968:exon3:c.G504A:p.V168V;ENSG00000081138:ENST00000323011:exon3:c.G504A:p.V168V;	2.71192603586736E-4	0.1
18	63477233	G	C	18	65809997	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon3:c.G504C:p.V168V;CDH7:NM_004361:exon3:c.G504C:p.V168V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.G504C:p.V168V;ENSG00000081138:ENST00000397968:exon3:c.G504C:p.V168V;ENSG00000081138:ENST00000323011:exon3:c.G504C:p.V168V;	1.30084333461487E-4	0.008
18	63477233	G	T	18	65809997	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon3:c.G504T:p.V168V;CDH7:NM_004361:exon3:c.G504T:p.V168V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.G504T:p.V168V;ENSG00000081138:ENST00000397968:exon3:c.G504T:p.V168V;ENSG00000081138:ENST00000323011:exon3:c.G504T:p.V168V;	1.28135464587049E-4	0.014
18	63477234	G	A	18	65809998	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.G505A:p.G169R;CDH7:NM_004361:exon3:c.G505A:p.G169R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.G505A:p.G169R;ENSG00000081138:ENST00000397968:exon3:c.G505A:p.G169R;ENSG00000081138:ENST00000323011:exon3:c.G505A:p.G169R;	0.999974826380146	0.988
18	63477234	G	C	18	65809998	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.G505C:p.G169R;CDH7:NM_004361:exon3:c.G505C:p.G169R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.G505C:p.G169R;ENSG00000081138:ENST00000397968:exon3:c.G505C:p.G169R;ENSG00000081138:ENST00000323011:exon3:c.G505C:p.G169R;	0.999950323543506	0.968
18	63477234	G	T	18	65809998	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon3:c.G505T:p.G169W;CDH7:NM_004361:exon3:c.G505T:p.G169W;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon3:c.G505T:p.G169W;ENSG00000081138:ENST00000397968:exon3:c.G505T:p.G169W;ENSG00000081138:ENST00000323011:exon3:c.G505T:p.G169W;	0.999872721603364	0.9
18	63477235	G	A	18	65809999	y	y	splicing	CDH7(NM_033646:exon3:c.505+1G>A;NM_004361:exon3:c.505+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.505+1G>A;ENST00000536984:exon3:c.505+1G>A;ENST00000397968:exon3:c.505+1G>A)	.	.	0.999990361384395	0.938
18	63477235	G	C	18	65809999	y	y	splicing	CDH7(NM_033646:exon3:c.505+1G>C;NM_004361:exon3:c.505+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.505+1G>C;ENST00000536984:exon3:c.505+1G>C;ENST00000397968:exon3:c.505+1G>C)	.	.	0.999990361384395	0.938
18	63477235	G	T	18	65809999	y	y	splicing	CDH7(NM_033646:exon3:c.505+1G>T;NM_004361:exon3:c.505+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.505+1G>T;ENST00000536984:exon3:c.505+1G>T;ENST00000397968:exon3:c.505+1G>T)	.	.	0.999990361384395	0.938
18	63477236	T	A	18	65810000	y	y	splicing	CDH7(NM_033646:exon3:c.505+2T>A;NM_004361:exon3:c.505+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.505+2T>A;ENST00000536984:exon3:c.505+2T>A;ENST00000397968:exon3:c.505+2T>A)	.	.	0.999988247793601	0.932
18	63477236	T	C	18	65810000	y	y	splicing	CDH7(NM_033646:exon3:c.505+2T>C;NM_004361:exon3:c.505+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.505+2T>C;ENST00000536984:exon3:c.505+2T>C;ENST00000397968:exon3:c.505+2T>C)	.	.	0.99340600729494	0.676
18	63477236	T	G	18	65810000	y	y	splicing	CDH7(NM_033646:exon3:c.505+2T>G;NM_004361:exon3:c.505+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon3:c.505+2T>G;ENST00000536984:exon3:c.505+2T>G;ENST00000397968:exon3:c.505+2T>G)	.	.	0.999988247793601	0.932
18	63477237	A	C	18	65810001	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.558427066495661	0.446
18	63477237	A	G	18	65810001	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.07524401104506E-4	0.036
18	63477237	A	T	18	65810001	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.674806190221558	0.454
18	63477238	A	C	18	65810002	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.976927446052887	0.678
18	63477238	A	G	18	65810002	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.995775345770462	0.848
18	63477238	A	T	18	65810002	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.99800252980525	0.832
18	63477239	G	A	18	65810003	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999872040224472	0.906
18	63477239	G	C	18	65810003	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999724807313021	0.932
18	63477239	G	T	18	65810003	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999843608904614	0.826
18	63477240	T	A	18	65810004	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.556225443606179	0.546
18	63477240	T	C	18	65810004	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.208445369988096	0.494
18	63477240	T	G	18	65810004	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.409961662814418	0.446
18	63477241	A	C	18	65810005	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.05356074481699E-4	0.006
18	63477241	A	G	18	65810005	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.05356074481699E-4	0.006
18	63477241	A	T	18	65810005	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.61275418791741E-5	0.002
18	63477242	A	C	18	65810006	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.08694755968719E-4	0.008
18	63477242	A	G	18	65810006	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.70059640259439E-5	0.01
18	63477242	A	T	18	65810006	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.20497298200597E-4	0.054
18	63481709	A	C	18	65814473	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.21732646513054E-4	0.3
18	63481709	A	G	18	65814473	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.04358317561899E-4	0.116
18	63481709	A	T	18	65814473	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.21732646513054E-4	0.37
18	63481710	T	A	18	65814474	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999726564362744	0.89
18	63481710	T	C	18	65814474	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.652386198913358	0.65
18	63481710	T	G	18	65814474	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.99994077116775	0.97
18	63481711	T	A	18	65814475	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999979635904221	0.97
18	63481711	T	C	18	65814475	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0168957650865319	0.248
18	63481711	T	G	18	65814475	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.997926728832923	0.904
18	63481712	G	A	18	65814476	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999769397949233	0.946
18	63481712	G	C	18	65814476	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.540333889384991	0.698
18	63481712	G	T	18	65814476	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.540333889384991	0.676
18	63481713	G	A	18	65814477	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.04945683613831E-4	0.11
18	63481713	G	C	18	65814477	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.58227169502808E-4	0.024
18	63481713	G	T	18	65814477	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.58227169502808E-4	0.048
18	63481714	C	A	18	65814478	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00725261225071964	0.214
18	63481714	C	G	18	65814478	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00423639802410914	0.22
18	63481714	C	T	18	65814478	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.89089911494733E-5	0.016
18	63481715	A	C	18	65814479	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.90585645503058E-5	0.014
18	63481715	A	G	18	65814479	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.39936761453164E-4	0.026
18	63481715	A	T	18	65814479	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.78778391337756E-5	0.018
18	63481716	T	A	18	65814480	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.845802631457986	0.462
18	63481716	T	C	18	65814480	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00243338348963193	0.252
18	63481716	T	G	18	65814480	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999750471911681	0.858
18	63481717	C	A	18	65814481	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.27409922379538E-4	0.048
18	63481717	C	G	18	65814481	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00175614589906604	0.05
18	63481717	C	T	18	65814481	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.98934697847703E-5	0.022
18	63481718	T	A	18	65814482	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.904769379901405	0.548
18	63481718	T	C	18	65814482	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.35914096915434E-4	0.052
18	63481718	T	G	18	65814482	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.980865368105911	0.664
18	63481719	A	C	18	65814483	y	y	splicing	CDH7(NM_033646:exon4:c.506-2A>C;NM_004361:exon4:c.506-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.506-2A>C;ENST00000536984:exon4:c.506-2A>C;ENST00000397968:exon4:c.506-2A>C)	.	.	0.999992007541056	0.93
18	63481719	A	G	18	65814483	y	y	splicing	CDH7(NM_033646:exon4:c.506-2A>G;NM_004361:exon4:c.506-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.506-2A>G;ENST00000536984:exon4:c.506-2A>G;ENST00000397968:exon4:c.506-2A>G)	.	.	0.999992007541056	0.93
18	63481719	A	T	18	65814483	y	y	splicing	CDH7(NM_033646:exon4:c.506-2A>T;NM_004361:exon4:c.506-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.506-2A>T;ENST00000536984:exon4:c.506-2A>T;ENST00000397968:exon4:c.506-2A>T)	.	.	0.999992007541056	0.93
18	63481720	G	A	18	65814484	y	y	splicing	CDH7(NM_033646:exon4:c.506-1G>A;NM_004361:exon4:c.506-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.506-1G>A;ENST00000536984:exon4:c.506-1G>A;ENST00000397968:exon4:c.506-1G>A)	.	.	0.999992568075586	0.924
18	63481720	G	C	18	65814484	y	y	splicing	CDH7(NM_033646:exon4:c.506-1G>C;NM_004361:exon4:c.506-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.506-1G>C;ENST00000536984:exon4:c.506-1G>C;ENST00000397968:exon4:c.506-1G>C)	.	.	0.999992568075586	0.924
18	63481720	G	T	18	65814484	y	y	splicing	CDH7(NM_033646:exon4:c.506-1G>T;NM_004361:exon4:c.506-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.506-1G>T;ENST00000536984:exon4:c.506-1G>T;ENST00000397968:exon4:c.506-1G>T)	.	.	0.999992568075586	0.924
18	63481721	G	A	18	65814485	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon4:c.G506A:p.G169E;CDH7:NM_004361:exon4:c.G506A:p.G169E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.G506A:p.G169E;ENSG00000081138:ENST00000397968:exon4:c.G506A:p.G169E;ENSG00000081138:ENST00000323011:exon4:c.G506A:p.G169E;	0.999660455625383	0.914
18	63481721	G	C	18	65814485	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon4:c.G506C:p.G169A;CDH7:NM_004361:exon4:c.G506C:p.G169A;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.G506C:p.G169A;ENSG00000081138:ENST00000397968:exon4:c.G506C:p.G169A;ENSG00000081138:ENST00000323011:exon4:c.G506C:p.G169A;	0.99992433878475	0.952
18	63481721	G	T	18	65814485	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon4:c.G506T:p.G169V;CDH7:NM_004361:exon4:c.G506T:p.G169V;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.G506T:p.G169V;ENSG00000081138:ENST00000397968:exon4:c.G506T:p.G169V;ENSG00000081138:ENST00000323011:exon4:c.G506T:p.G169V;	0.999965384445316	0.986
18	63481722	G	A	18	65814486	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon4:c.G507A:p.G169G;CDH7:NM_004361:exon4:c.G507A:p.G169G;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.G507A:p.G169G;ENSG00000081138:ENST00000397968:exon4:c.G507A:p.G169G;ENSG00000081138:ENST00000323011:exon4:c.G507A:p.G169G;	1.14905748063502E-4	0.03
18	63481722	G	C	18	65814486	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon4:c.G507C:p.G169G;CDH7:NM_004361:exon4:c.G507C:p.G169G;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.G507C:p.G169G;ENSG00000081138:ENST00000397968:exon4:c.G507C:p.G169G;ENSG00000081138:ENST00000323011:exon4:c.G507C:p.G169G;	0.00179025144669703	0.04
18	63481722	G	T	18	65814486	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon4:c.G507T:p.G169G;CDH7:NM_004361:exon4:c.G507T:p.G169G;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.G507T:p.G169G;ENSG00000081138:ENST00000397968:exon4:c.G507T:p.G169G;ENSG00000081138:ENST00000323011:exon4:c.G507T:p.G169G;	7.6862930425849E-4	0.042
18	63481838	C	A	18	65814602	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon4:c.C623A:p.T208K;CDH7:NM_004361:exon4:c.C623A:p.T208K;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.C623A:p.T208K;ENSG00000081138:ENST00000397968:exon4:c.C623A:p.T208K;ENSG00000081138:ENST00000323011:exon4:c.C623A:p.T208K;	0.952774475277172	0.818
18	63481838	C	G	18	65814602	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon4:c.C623G:p.T208R;CDH7:NM_004361:exon4:c.C623G:p.T208R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.C623G:p.T208R;ENSG00000081138:ENST00000397968:exon4:c.C623G:p.T208R;ENSG00000081138:ENST00000323011:exon4:c.C623G:p.T208R;	0.950081131152631	0.66
18	63481838	C	T	18	65814602	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon4:c.C623T:p.T208I;CDH7:NM_004361:exon4:c.C623T:p.T208I;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.C623T:p.T208I;ENSG00000081138:ENST00000397968:exon4:c.C623T:p.T208I;ENSG00000081138:ENST00000323011:exon4:c.C623T:p.T208I;	0.999885106885517	0.97
18	63481839	A	C	18	65814603	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon4:c.A624C:p.T208T;CDH7:NM_004361:exon4:c.A624C:p.T208T;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.A624C:p.T208T;ENSG00000081138:ENST00000397968:exon4:c.A624C:p.T208T;ENSG00000081138:ENST00000323011:exon4:c.A624C:p.T208T;	0.997306059798743	0.934
18	63481839	A	G	18	65814603	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon4:c.A624G:p.T208T;CDH7:NM_004361:exon4:c.A624G:p.T208T;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.A624G:p.T208T;ENSG00000081138:ENST00000397968:exon4:c.A624G:p.T208T;ENSG00000081138:ENST00000323011:exon4:c.A624G:p.T208T;	0.998938807813522	0.992
18	63481839	A	T	18	65814603	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon4:c.A624T:p.T208T;CDH7:NM_004361:exon4:c.A624T:p.T208T;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.A624T:p.T208T;ENSG00000081138:ENST00000397968:exon4:c.A624T:p.T208T;ENSG00000081138:ENST00000323011:exon4:c.A624T:p.T208T;	0.998851684400284	0.988
18	63481840	G	A	18	65814604	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon4:c.G625A:p.G209R;CDH7:NM_004361:exon4:c.G625A:p.G209R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.G625A:p.G209R;ENSG00000081138:ENST00000397968:exon4:c.G625A:p.G209R;ENSG00000081138:ENST00000323011:exon4:c.G625A:p.G209R;	0.999994222381975	1.0
18	63481840	G	C	18	65814604	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon4:c.G625C:p.G209R;CDH7:NM_004361:exon4:c.G625C:p.G209R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon4:c.G625C:p.G209R;ENSG00000081138:ENST00000397968:exon4:c.G625C:p.G209R;ENSG00000081138:ENST00000323011:exon4:c.G625C:p.G209R;	0.999998122414291	1.0
18	63481840	G	T	18	65814604	y	y	exonic	CDH7	stopgain SNV	CDH7:NM_033646:exon4:c.G625T:p.G209X;CDH7:NM_004361:exon4:c.G625T:p.G209X;	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon4:c.G625T:p.G209X;ENSG00000081138:ENST00000397968:exon4:c.G625T:p.G209X;ENSG00000081138:ENST00000323011:exon4:c.G625T:p.G209X;	0.999993018555097	0.992
18	63481841	G	A	18	65814605	y	y	splicing	CDH7(NM_033646:exon4:c.625+1G>A;NM_004361:exon4:c.625+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.625+1G>A;ENST00000536984:exon4:c.625+1G>A;ENST00000397968:exon4:c.625+1G>A)	.	.	0.999990361384395	0.938
18	63481841	G	C	18	65814605	y	y	splicing	CDH7(NM_033646:exon4:c.625+1G>C;NM_004361:exon4:c.625+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.625+1G>C;ENST00000536984:exon4:c.625+1G>C;ENST00000397968:exon4:c.625+1G>C)	.	.	0.999990361384395	0.938
18	63481841	G	T	18	65814605	y	y	splicing	CDH7(NM_033646:exon4:c.625+1G>T;NM_004361:exon4:c.625+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.625+1G>T;ENST00000536984:exon4:c.625+1G>T;ENST00000397968:exon4:c.625+1G>T)	.	.	0.999990361384395	0.938
18	63481842	T	A	18	65814606	y	y	splicing	CDH7(NM_033646:exon4:c.625+2T>A;NM_004361:exon4:c.625+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.625+2T>A;ENST00000536984:exon4:c.625+2T>A;ENST00000397968:exon4:c.625+2T>A)	.	.	0.999988247793601	0.932
18	63481842	T	C	18	65814606	y	y	splicing	CDH7(NM_033646:exon4:c.625+2T>C;NM_004361:exon4:c.625+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.625+2T>C;ENST00000536984:exon4:c.625+2T>C;ENST00000397968:exon4:c.625+2T>C)	.	.	0.995944345829671	0.692
18	63481842	T	G	18	65814606	y	y	splicing	CDH7(NM_033646:exon4:c.625+2T>G;NM_004361:exon4:c.625+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon4:c.625+2T>G;ENST00000536984:exon4:c.625+2T>G;ENST00000397968:exon4:c.625+2T>G)	.	.	0.999988247793601	0.93
18	63481843	A	C	18	65814607	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.997063639748978	0.874
18	63481843	A	G	18	65814607	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.930232239084835	0.698
18	63481843	A	T	18	65814607	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.995177818069251	0.86
18	63481844	A	C	18	65814608	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00614524773548396	0.334
18	63481844	A	G	18	65814608	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0740609250932063	0.386
18	63481844	A	T	18	65814608	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0145978748111481	0.388
18	63481845	A	C	18	65814609	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.15452993701339E-4	0.01
18	63481845	A	G	18	65814609	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.04410581848581E-4	0.004
18	63481845	A	T	18	65814609	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.74394717871527E-5	0.004
18	63481846	A	C	18	65814610	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.79628559831917E-5	0.02
18	63481846	A	G	18	65814610	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.56464402804176E-5	0.0
18	63481846	A	T	18	65814610	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.59551896709084E-5	0.0
18	63481847	A	C	18	65814611	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.61973001172284E-5	0.018
18	63481847	A	G	18	65814611	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.03599101124351E-5	0.016
18	63481847	A	T	18	65814611	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.63825768587741E-4	0.012
18	63481848	T	A	18	65814612	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.09579474250486E-6	0.0
18	63481848	T	C	18	65814612	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.09579474250486E-6	0.0
18	63481848	T	G	18	65814612	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.00720376625508E-5	0.0
18	63489305	G	A	18	65822069	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00277975574832522	0.106
18	63489305	G	C	18	65822069	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.79822637126639E-4	0.026
18	63489305	G	T	18	65822069	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.79822637126639E-4	0.02
18	63489306	A	C	18	65822070	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00409184851390871	0.042
18	63489306	A	G	18	65822070	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00906675518031671	0.106
18	63489306	A	T	18	65822070	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0105967682004381	0.158
18	63489307	A	C	18	65822071	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00439962473339752	0.056
18	63489307	A	G	18	65822071	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999352159025001	0.908
18	63489307	A	T	18	65822071	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0063025873947814	0.114
18	63489308	A	C	18	65822072	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00175258378845349	0.034
18	63489308	A	G	18	65822072	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998838433505647	0.89
18	63489308	A	T	18	65822072	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00406744937178898	0.052
18	63489309	T	A	18	65822073	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.995403714255371	0.91
18	63489309	T	C	18	65822073	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0015836270005606	0.144
18	63489309	T	G	18	65822073	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999935451179547	0.984
18	63489310	T	A	18	65822074	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.441196904552575	0.664
18	63489310	T	C	18	65822074	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.91470667321218E-4	0.026
18	63489310	T	G	18	65822074	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.25015346723062	0.646
18	63489311	T	A	18	65822075	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.992695224628544	0.878
18	63489311	T	C	18	65822075	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00202747207254667	0.114
18	63489311	T	G	18	65822075	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.992695224628544	0.888
18	63489312	T	A	18	65822076	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.985957066750451	0.844
18	63489312	T	C	18	65822076	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.199256237040152	0.252
18	63489312	T	G	18	65822076	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.99666928061224	0.916
18	63489313	A	C	18	65822077	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.10425673107289E-5	0.048
18	63489313	A	G	18	65822077	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.57893226040961E-4	0.088
18	63489313	A	T	18	65822077	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.07502070996686E-4	0.034
18	63489314	C	A	18	65822078	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999659116217449	0.902
18	63489314	C	G	18	65822078	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999913099348101	0.924
18	63489314	C	T	18	65822078	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.441914928167768	0.096
18	63489315	A	C	18	65822079	y	y	splicing	CDH7(NM_033646:exon5:c.626-2A>C;NM_004361:exon5:c.626-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.626-2A>C;ENST00000536984:exon5:c.626-2A>C;ENST00000397968:exon5:c.626-2A>C)	.	.	0.999988624979899	0.944
18	63489315	A	G	18	65822079	y	y	splicing	CDH7(NM_033646:exon5:c.626-2A>G;NM_004361:exon5:c.626-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.626-2A>G;ENST00000536984:exon5:c.626-2A>G;ENST00000397968:exon5:c.626-2A>G)	.	.	0.999988624979899	0.944
18	63489315	A	T	18	65822079	y	y	splicing	CDH7(NM_033646:exon5:c.626-2A>T;NM_004361:exon5:c.626-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.626-2A>T;ENST00000536984:exon5:c.626-2A>T;ENST00000397968:exon5:c.626-2A>T)	.	.	0.999988624979899	0.944
18	63489316	G	A	18	65822080	y	y	splicing	CDH7(NM_033646:exon5:c.626-1G>A;NM_004361:exon5:c.626-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.626-1G>A;ENST00000536984:exon5:c.626-1G>A;ENST00000397968:exon5:c.626-1G>A)	.	.	0.999984967332678	0.946
18	63489316	G	C	18	65822080	y	y	splicing	CDH7(NM_033646:exon5:c.626-1G>C;NM_004361:exon5:c.626-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.626-1G>C;ENST00000536984:exon5:c.626-1G>C;ENST00000397968:exon5:c.626-1G>C)	.	.	0.999984967332678	0.946
18	63489316	G	T	18	65822080	y	y	splicing	CDH7(NM_033646:exon5:c.626-1G>T;NM_004361:exon5:c.626-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.626-1G>T;ENST00000536984:exon5:c.626-1G>T;ENST00000397968:exon5:c.626-1G>T)	.	.	0.999984967332678	0.946
18	63489317	G	A	18	65822081	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon5:c.G626A:p.G209E;CDH7:NM_004361:exon5:c.G626A:p.G209E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.G626A:p.G209E;ENSG00000081138:ENST00000397968:exon5:c.G626A:p.G209E;ENSG00000081138:ENST00000323011:exon5:c.G626A:p.G209E;	0.999634957958426	0.912
18	63489317	G	C	18	65822081	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon5:c.G626C:p.G209A;CDH7:NM_004361:exon5:c.G626C:p.G209A;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.G626C:p.G209A;ENSG00000081138:ENST00000397968:exon5:c.G626C:p.G209A;ENSG00000081138:ENST00000323011:exon5:c.G626C:p.G209A;	0.999849936589017	0.988
18	63489317	G	T	18	65822081	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon5:c.G626T:p.G209V;CDH7:NM_004361:exon5:c.G626T:p.G209V;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.G626T:p.G209V;ENSG00000081138:ENST00000397968:exon5:c.G626T:p.G209V;ENSG00000081138:ENST00000323011:exon5:c.G626T:p.G209V;	0.999946363809222	0.984
18	63489318	A	C	18	65822082	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon5:c.A627C:p.G209G;CDH7:NM_004361:exon5:c.A627C:p.G209G;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A627C:p.G209G;ENSG00000081138:ENST00000397968:exon5:c.A627C:p.G209G;ENSG00000081138:ENST00000323011:exon5:c.A627C:p.G209G;	0.00992239146144865	0.068
18	63489318	A	G	18	65822082	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon5:c.A627G:p.G209G;CDH7:NM_004361:exon5:c.A627G:p.G209G;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A627G:p.G209G;ENSG00000081138:ENST00000397968:exon5:c.A627G:p.G209G;ENSG00000081138:ENST00000323011:exon5:c.A627G:p.G209G;	0.010452047106723	0.032
18	63489318	A	T	18	65822082	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon5:c.A627T:p.G209G;CDH7:NM_004361:exon5:c.A627T:p.G209G;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A627T:p.G209G;ENSG00000081138:ENST00000397968:exon5:c.A627T:p.G209G;ENSG00000081138:ENST00000323011:exon5:c.A627T:p.G209G;	0.0051427238040911	0.072
18	63489482	G	A	18	65822246	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon5:c.G791A:p.R264Q;CDH7:NM_004361:exon5:c.G791A:p.R264Q;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.G791A:p.R264Q;ENSG00000081138:ENST00000397968:exon5:c.G791A:p.R264Q;ENSG00000081138:ENST00000323011:exon5:c.G791A:p.R264Q;	6.10187236520712E-4	0.01
18	63489482	G	C	18	65822246	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon5:c.G791C:p.R264P;CDH7:NM_004361:exon5:c.G791C:p.R264P;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.G791C:p.R264P;ENSG00000081138:ENST00000397968:exon5:c.G791C:p.R264P;ENSG00000081138:ENST00000323011:exon5:c.G791C:p.R264P;	0.941569137845543	0.73
18	63489482	G	T	18	65822246	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon5:c.G791T:p.R264L;CDH7:NM_004361:exon5:c.G791T:p.R264L;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.G791T:p.R264L;ENSG00000081138:ENST00000397968:exon5:c.G791T:p.R264L;ENSG00000081138:ENST00000323011:exon5:c.G791T:p.R264L;	0.965258859669416	0.79
18	63489483	A	C	18	65822247	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon5:c.A792C:p.R264R;CDH7:NM_004361:exon5:c.A792C:p.R264R;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A792C:p.R264R;ENSG00000081138:ENST00000397968:exon5:c.A792C:p.R264R;ENSG00000081138:ENST00000323011:exon5:c.A792C:p.R264R;	0.206542546737489	0.594
18	63489483	A	G	18	65822247	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon5:c.A792G:p.R264R;CDH7:NM_004361:exon5:c.A792G:p.R264R;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A792G:p.R264R;ENSG00000081138:ENST00000397968:exon5:c.A792G:p.R264R;ENSG00000081138:ENST00000323011:exon5:c.A792G:p.R264R;	0.153940783288992	0.38
18	63489483	A	T	18	65822247	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon5:c.A792T:p.R264R;CDH7:NM_004361:exon5:c.A792T:p.R264R;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A792T:p.R264R;ENSG00000081138:ENST00000397968:exon5:c.A792T:p.R264R;ENSG00000081138:ENST00000323011:exon5:c.A792T:p.R264R;	0.515372838358193	0.65
18	63489484	A	C	18	65822248	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon5:c.A793C:p.R265R;CDH7:NM_004361:exon5:c.A793C:p.R265R;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A793C:p.R265R;ENSG00000081138:ENST00000397968:exon5:c.A793C:p.R265R;ENSG00000081138:ENST00000323011:exon5:c.A793C:p.R265R;	0.0647523788311627	0.3
18	63489484	A	G	18	65822248	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon5:c.A793G:p.R265G;CDH7:NM_004361:exon5:c.A793G:p.R265G;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A793G:p.R265G;ENSG00000081138:ENST00000397968:exon5:c.A793G:p.R265G;ENSG00000081138:ENST00000323011:exon5:c.A793G:p.R265G;	0.00165209097987163	0.04
18	63489484	A	T	18	65822248	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon5:c.A793T:p.R265W;CDH7:NM_004361:exon5:c.A793T:p.R265W;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon5:c.A793T:p.R265W;ENSG00000081138:ENST00000397968:exon5:c.A793T:p.R265W;ENSG00000081138:ENST00000323011:exon5:c.A793T:p.R265W;	0.688353014411102	0.644
18	63489485	G	A	18	65822249	y	y	splicing	CDH7(NM_033646:exon5:c.793+1G>A;NM_004361:exon5:c.793+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.793+1G>A;ENST00000536984:exon5:c.793+1G>A;ENST00000397968:exon5:c.793+1G>A)	.	.	0.999986675681007	0.94
18	63489485	G	C	18	65822249	y	y	splicing	CDH7(NM_033646:exon5:c.793+1G>C;NM_004361:exon5:c.793+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.793+1G>C;ENST00000536984:exon5:c.793+1G>C;ENST00000397968:exon5:c.793+1G>C)	.	.	0.999986675681007	0.94
18	63489485	G	T	18	65822249	y	y	splicing	CDH7(NM_033646:exon5:c.793+1G>T;NM_004361:exon5:c.793+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.793+1G>T;ENST00000536984:exon5:c.793+1G>T;ENST00000397968:exon5:c.793+1G>T)	.	.	0.999986675681007	0.94
18	63489486	T	A	18	65822250	y	y	splicing	CDH7(NM_033646:exon5:c.793+2T>A;NM_004361:exon5:c.793+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.793+2T>A;ENST00000536984:exon5:c.793+2T>A;ENST00000397968:exon5:c.793+2T>A)	.	.	0.999989917668626	0.928
18	63489486	T	C	18	65822250	y	y	splicing	CDH7(NM_033646:exon5:c.793+2T>C;NM_004361:exon5:c.793+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.793+2T>C;ENST00000536984:exon5:c.793+2T>C;ENST00000397968:exon5:c.793+2T>C)	.	.	0.993964682184248	0.638
18	63489486	T	G	18	65822250	y	y	splicing	CDH7(NM_033646:exon5:c.793+2T>G;NM_004361:exon5:c.793+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon5:c.793+2T>G;ENST00000536984:exon5:c.793+2T>G;ENST00000397968:exon5:c.793+2T>G)	.	.	0.999989917668626	0.928
18	63489487	A	C	18	65822251	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999876932589168	0.934
18	63489487	A	G	18	65822251	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.110643145427438	0.298
18	63489487	A	T	18	65822251	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999085077436586	0.846
18	63489488	A	C	18	65822252	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.989867660846468	0.804
18	63489488	A	G	18	65822252	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.996334497472689	0.906
18	63489488	A	T	18	65822252	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.996896999096068	0.848
18	63489489	G	A	18	65822253	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998564493763476	0.994
18	63489489	G	C	18	65822253	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.99969120798359	0.984
18	63489489	G	T	18	65822253	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999748940062304	0.944
18	63489490	T	A	18	65822254	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0458093228509042	0.234
18	63489490	T	C	18	65822254	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0102905129692392	0.146
18	63489490	T	G	18	65822254	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0122955119172786	0.232
18	63489491	T	A	18	65822255	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.21940553830529E-5	0.0
18	63489491	T	C	18	65822255	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.44410056029417E-5	0.0
18	63489491	T	G	18	65822255	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.47308944534904E-5	0.006
18	63489492	G	A	18	65822256	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.27993382192308E-5	0.0
18	63489492	G	C	18	65822256	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.3519283322177E-6	0.0
18	63489492	G	T	18	65822256	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.3519283322177E-6	0.0
18	63491868	T	A	18	65824632	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999992765327629	0.974
18	63491868	T	C	18	65824632	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.065529768988805	0.35
18	63491868	T	G	18	65824632	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998128249674948	0.898
18	63491869	G	A	18	65824633	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.19021400460763E-4	0.032
18	63491869	G	C	18	65824633	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.92552459311599E-5	0.012
18	63491869	G	T	18	65824633	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.94759896912165E-5	0.014
18	63491870	A	C	18	65824634	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0221544361098587	0.18
18	63491870	A	G	18	65824634	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.151789891122101	0.248
18	63491870	A	T	18	65824634	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.03520266445163	0.234
18	63491871	A	C	18	65824635	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.74243059714971E-4	0.058
18	63491871	A	G	18	65824635	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998489676638594	0.932
18	63491871	A	T	18	65824635	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.22004277489298E-4	0.098
18	63491872	T	A	18	65824636	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.224197798405805	0.51
18	63491872	T	C	18	65824636	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00267492916954301	0.058
18	63491872	T	G	18	65824636	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999824519868838	0.966
18	63491873	T	A	18	65824637	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.237205586181075	0.572
18	63491873	T	C	18	65824637	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.2369237007726E-4	0.108
18	63491873	T	G	18	65824637	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.270710545088153	0.42
18	63491874	T	A	18	65824638	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.857597148628406	0.774
18	63491874	T	C	18	65824638	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00113039002847765	0.028
18	63491874	T	G	18	65824638	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.888506244357292	0.758
18	63491875	C	A	18	65824639	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.04950684950909E-4	0.084
18	63491875	C	G	18	65824639	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00181621952117572	0.108
18	63491875	C	T	18	65824639	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.04485398899708E-4	0.014
18	63491876	A	C	18	65824640	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.05021518109774E-4	0.004
18	63491876	A	G	18	65824640	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.29321353609339E-4	0.104
18	63491876	A	T	18	65824640	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.41063766559273E-4	0.016
18	63491877	C	A	18	65824641	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.383425590543372	0.538
18	63491877	C	G	18	65824641	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999699626253748	0.956
18	63491877	C	T	18	65824641	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00217290435416262	0.038
18	63491878	A	C	18	65824642	y	y	splicing	CDH7(NM_033646:exon6:c.794-2A>C;NM_004361:exon6:c.794-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.794-2A>C;ENST00000536984:exon6:c.794-2A>C;ENST00000397968:exon6:c.794-2A>C)	.	.	0.999992752818502	0.924
18	63491878	A	G	18	65824642	y	y	splicing	CDH7(NM_033646:exon6:c.794-2A>G;NM_004361:exon6:c.794-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.794-2A>G;ENST00000536984:exon6:c.794-2A>G;ENST00000397968:exon6:c.794-2A>G)	.	.	0.999992752818502	0.924
18	63491878	A	T	18	65824642	y	y	splicing	CDH7(NM_033646:exon6:c.794-2A>T;NM_004361:exon6:c.794-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.794-2A>T;ENST00000536984:exon6:c.794-2A>T;ENST00000397968:exon6:c.794-2A>T)	.	.	0.999992752818502	0.924
18	63491879	G	A	18	65824643	y	y	splicing	CDH7(NM_033646:exon6:c.794-1G>A;NM_004361:exon6:c.794-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.794-1G>A;ENST00000536984:exon6:c.794-1G>A;ENST00000397968:exon6:c.794-1G>A)	.	.	0.999981760802075	0.936
18	63491879	G	C	18	65824643	y	y	splicing	CDH7(NM_033646:exon6:c.794-1G>C;NM_004361:exon6:c.794-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.794-1G>C;ENST00000536984:exon6:c.794-1G>C;ENST00000397968:exon6:c.794-1G>C)	.	.	0.999981760802075	0.936
18	63491879	G	T	18	65824643	y	y	splicing	CDH7(NM_033646:exon6:c.794-1G>T;NM_004361:exon6:c.794-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.794-1G>T;ENST00000536984:exon6:c.794-1G>T;ENST00000397968:exon6:c.794-1G>T)	.	.	0.999981760802075	0.936
18	63491880	G	A	18	65824644	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.G794A:p.R265K;CDH7:NM_004361:exon6:c.G794A:p.R265K;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G794A:p.R265K;ENSG00000081138:ENST00000397968:exon6:c.G794A:p.R265K;ENSG00000081138:ENST00000323011:exon6:c.G794A:p.R265K;	0.445070781114464	0.542
18	63491880	G	C	18	65824644	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.G794C:p.R265T;CDH7:NM_004361:exon6:c.G794C:p.R265T;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G794C:p.R265T;ENSG00000081138:ENST00000397968:exon6:c.G794C:p.R265T;ENSG00000081138:ENST00000323011:exon6:c.G794C:p.R265T;	0.996752097890261	0.854
18	63491880	G	T	18	65824644	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.G794T:p.R265M;CDH7:NM_004361:exon6:c.G794T:p.R265M;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G794T:p.R265M;ENSG00000081138:ENST00000397968:exon6:c.G794T:p.R265M;ENSG00000081138:ENST00000323011:exon6:c.G794T:p.R265M;	0.999518447599576	0.962
18	63491881	G	A	18	65824645	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon6:c.G795A:p.R265R;CDH7:NM_004361:exon6:c.G795A:p.R265R;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G795A:p.R265R;ENSG00000081138:ENST00000397968:exon6:c.G795A:p.R265R;ENSG00000081138:ENST00000323011:exon6:c.G795A:p.R265R;	5.38533907792805E-4	0.088
18	63491881	G	C	18	65824645	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.G795C:p.R265S;CDH7:NM_004361:exon6:c.G795C:p.R265S;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G795C:p.R265S;ENSG00000081138:ENST00000397968:exon6:c.G795C:p.R265S;ENSG00000081138:ENST00000323011:exon6:c.G795C:p.R265S;	1.51965981708353E-5	0.0
18	63491881	G	T	18	65824645	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.G795T:p.R265S;CDH7:NM_004361:exon6:c.G795T:p.R265S;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G795T:p.R265S;ENSG00000081138:ENST00000397968:exon6:c.G795T:p.R265S;ENSG00000081138:ENST00000323011:exon6:c.G795T:p.R265S;	9.09740216807318E-6	0.0
18	63492065	A	C	18	65824829	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.A979C:p.K327Q;CDH7:NM_004361:exon6:c.A979C:p.K327Q;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.A979C:p.K327Q;ENSG00000081138:ENST00000397968:exon6:c.A979C:p.K327Q;ENSG00000081138:ENST00000323011:exon6:c.A979C:p.K327Q;	0.0241173313034902	0.364
18	63492065	A	G	18	65824829	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.A979G:p.K327E;CDH7:NM_004361:exon6:c.A979G:p.K327E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.A979G:p.K327E;ENSG00000081138:ENST00000397968:exon6:c.A979G:p.K327E;ENSG00000081138:ENST00000323011:exon6:c.A979G:p.K327E;	0.0420487436618918	0.344
18	63492065	A	T	18	65824829	y	y	exonic	CDH7	stopgain SNV	CDH7:NM_033646:exon6:c.A979T:p.K327X;CDH7:NM_004361:exon6:c.A979T:p.K327X;	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon6:c.A979T:p.K327X;ENSG00000081138:ENST00000397968:exon6:c.A979T:p.K327X;ENSG00000081138:ENST00000323011:exon6:c.A979T:p.K327X;	0.972965809113139	0.752
18	63492066	A	C	18	65824830	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.A980C:p.K327T;CDH7:NM_004361:exon6:c.A980C:p.K327T;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.A980C:p.K327T;ENSG00000081138:ENST00000397968:exon6:c.A980C:p.K327T;ENSG00000081138:ENST00000323011:exon6:c.A980C:p.K327T;	0.999837040586908	0.99
18	63492066	A	G	18	65824830	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.A980G:p.K327R;CDH7:NM_004361:exon6:c.A980G:p.K327R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.A980G:p.K327R;ENSG00000081138:ENST00000397968:exon6:c.A980G:p.K327R;ENSG00000081138:ENST00000323011:exon6:c.A980G:p.K327R;	0.999916420849391	0.99
18	63492066	A	T	18	65824830	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.A980T:p.K327M;CDH7:NM_004361:exon6:c.A980T:p.K327M;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.A980T:p.K327M;ENSG00000081138:ENST00000397968:exon6:c.A980T:p.K327M;ENSG00000081138:ENST00000323011:exon6:c.A980T:p.K327M;	0.999928236269337	0.996
18	63492067	G	A	18	65824831	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon6:c.G981A:p.K327K;CDH7:NM_004361:exon6:c.G981A:p.K327K;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G981A:p.K327K;ENSG00000081138:ENST00000397968:exon6:c.G981A:p.K327K;ENSG00000081138:ENST00000323011:exon6:c.G981A:p.K327K;	0.999957964804338	1.0
18	63492067	G	C	18	65824831	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.G981C:p.K327N;CDH7:NM_004361:exon6:c.G981C:p.K327N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G981C:p.K327N;ENSG00000081138:ENST00000397968:exon6:c.G981C:p.K327N;ENSG00000081138:ENST00000323011:exon6:c.G981C:p.K327N;	0.999996883910292	1.0
18	63492067	G	T	18	65824831	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon6:c.G981T:p.K327N;CDH7:NM_004361:exon6:c.G981T:p.K327N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon6:c.G981T:p.K327N;ENSG00000081138:ENST00000397968:exon6:c.G981T:p.K327N;ENSG00000081138:ENST00000323011:exon6:c.G981T:p.K327N;	0.999987469944553	0.994
18	63492068	G	A	18	65824832	y	y	splicing	CDH7(NM_033646:exon6:c.981+1G>A;NM_004361:exon6:c.981+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.981+1G>A;ENST00000536984:exon6:c.981+1G>A;ENST00000397968:exon6:c.981+1G>A)	.	.	0.999981760802075	0.938
18	63492068	G	C	18	65824832	y	y	splicing	CDH7(NM_033646:exon6:c.981+1G>C;NM_004361:exon6:c.981+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.981+1G>C;ENST00000536984:exon6:c.981+1G>C;ENST00000397968:exon6:c.981+1G>C)	.	.	0.999981760802075	0.938
18	63492068	G	T	18	65824832	y	y	splicing	CDH7(NM_033646:exon6:c.981+1G>T;NM_004361:exon6:c.981+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.981+1G>T;ENST00000536984:exon6:c.981+1G>T;ENST00000397968:exon6:c.981+1G>T)	.	.	0.999981760802075	0.938
18	63492069	T	A	18	65824833	y	y	splicing	CDH7(NM_033646:exon6:c.981+2T>A;NM_004361:exon6:c.981+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.981+2T>A;ENST00000536984:exon6:c.981+2T>A;ENST00000397968:exon6:c.981+2T>A)	.	.	0.999990155693597	0.928
18	63492069	T	C	18	65824833	y	y	splicing	CDH7(NM_033646:exon6:c.981+2T>C;NM_004361:exon6:c.981+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.981+2T>C;ENST00000536984:exon6:c.981+2T>C;ENST00000397968:exon6:c.981+2T>C)	.	.	0.991154604827462	0.616
18	63492069	T	G	18	65824833	y	y	splicing	CDH7(NM_033646:exon6:c.981+2T>G;NM_004361:exon6:c.981+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon6:c.981+2T>G;ENST00000536984:exon6:c.981+2T>G;ENST00000397968:exon6:c.981+2T>G)	.	.	0.999990155693597	0.928
18	63492070	A	C	18	65824834	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999951325878169	0.944
18	63492070	A	G	18	65824834	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.97221356993824	0.866
18	63492070	A	T	18	65824834	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999952966457865	0.95
18	63492071	A	C	18	65824835	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.396715733174328	0.378
18	63492071	A	G	18	65824835	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.861257601730946	0.604
18	63492071	A	T	18	65824835	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.176479919649186	0.302
18	63492072	T	A	18	65824836	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.07151024399852E-4	0.004
18	63492072	T	C	18	65824836	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.64599631358657E-4	0.0
18	63492072	T	G	18	65824836	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.39240133710636E-4	0.036
18	63492073	G	A	18	65824837	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.20382183177818E-4	0.008
18	63492073	G	C	18	65824837	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.23045013214918E-4	0.068
18	63492073	G	T	18	65824837	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.00423168819127E-5	0.0
18	63492074	T	A	18	65824838	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00271360945527068	0.05
18	63492074	T	C	18	65824838	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00103497018548821	0.052
18	63492074	T	G	18	65824838	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00103497018548821	0.052
18	63492075	T	A	18	65824839	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00102312944092279	0.07
18	63492075	T	C	18	65824839	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.36775662931485E-4	0.01
18	63492075	T	G	18	65824839	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00128323843486699	0.01
18	63511036	C	A	18	65843800	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00157901638167371	0.05
18	63511036	C	G	18	65843800	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998523338356122	0.962
18	63511036	C	T	18	65843800	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.58715878303738E-5	0.0
18	63511037	T	A	18	65843801	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.883217704237464	0.684
18	63511037	T	C	18	65843801	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0583011352152605	0.148
18	63511037	T	G	18	65843801	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.558681811828394	0.582
18	63511038	T	A	18	65843802	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.349830672777842	0.536
18	63511038	T	C	18	65843802	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.5828797370456E-5	0.014
18	63511038	T	G	18	65843802	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0814988606890522	0.53
18	63511039	T	A	18	65843803	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0123680868543788	0.27
18	63511039	T	C	18	65843803	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.23903879586054E-4	0.004
18	63511039	T	G	18	65843803	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.010919320141444	0.252
18	63511040	C	A	18	65843804	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00506721903518455	0.064
18	63511040	C	G	18	65843804	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0100454204728153	0.05
18	63511040	C	T	18	65843804	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.33696469745337E-5	0.006
18	63511041	T	A	18	65843805	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0295622716338387	0.25
18	63511041	T	C	18	65843805	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.03911052278792E-5	0.0
18	63511041	T	G	18	65843805	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0124324623281709	0.188
18	63511042	T	A	18	65843806	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.455078969534438	0.404
18	63511042	T	C	18	65843806	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.9949202988196E-4	0.002
18	63511042	T	G	18	65843806	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.427757088016562	0.51
18	63511043	T	A	18	65843807	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.136869654363785	0.472
18	63511043	T	C	18	65843807	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00468950505344332	0.03
18	63511043	T	G	18	65843807	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.222020475925859	0.488
18	63511044	A	C	18	65843808	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.44927731676085E-4	0.0
18	63511044	A	G	18	65843808	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.70468354515916E-4	0.0
18	63511044	A	T	18	65843808	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.64018052897033E-5	0.012
18	63511045	C	A	18	65843809	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.690515408516375	0.414
18	63511045	C	G	18	65843809	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998692157009742	0.782
18	63511045	C	T	18	65843809	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00112452746220366	0.088
18	63511046	A	C	18	65843810	y	y	splicing	CDH7(NM_033646:exon7:c.982-2A>C;NM_004361:exon7:c.982-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.982-2A>C;ENST00000536984:exon7:c.982-2A>C;ENST00000397968:exon7:c.982-2A>C)	.	.	0.999988247793601	0.928
18	63511046	A	G	18	65843810	y	y	splicing	CDH7(NM_033646:exon7:c.982-2A>G;NM_004361:exon7:c.982-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.982-2A>G;ENST00000536984:exon7:c.982-2A>G;ENST00000397968:exon7:c.982-2A>G)	.	.	0.999988247793601	0.928
18	63511046	A	T	18	65843810	y	y	splicing	CDH7(NM_033646:exon7:c.982-2A>T;NM_004361:exon7:c.982-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.982-2A>T;ENST00000536984:exon7:c.982-2A>T;ENST00000397968:exon7:c.982-2A>T)	.	.	0.999988247793601	0.928
18	63511047	G	A	18	65843811	y	y	splicing	CDH7(NM_033646:exon7:c.982-1G>A;NM_004361:exon7:c.982-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.982-1G>A;ENST00000536984:exon7:c.982-1G>A;ENST00000397968:exon7:c.982-1G>A)	.	.	0.999985532734767	0.936
18	63511047	G	C	18	65843811	y	y	splicing	CDH7(NM_033646:exon7:c.982-1G>C;NM_004361:exon7:c.982-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.982-1G>C;ENST00000536984:exon7:c.982-1G>C;ENST00000397968:exon7:c.982-1G>C)	.	.	0.999985532734767	0.936
18	63511047	G	T	18	65843811	y	y	splicing	CDH7(NM_033646:exon7:c.982-1G>T;NM_004361:exon7:c.982-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.982-1G>T;ENST00000536984:exon7:c.982-1G>T;ENST00000397968:exon7:c.982-1G>T)	.	.	0.999985532734767	0.936
18	63511048	G	A	18	65843812	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.G982A:p.E328K;CDH7:NM_004361:exon7:c.G982A:p.E328K;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.G982A:p.E328K;ENSG00000081138:ENST00000397968:exon7:c.G982A:p.E328K;ENSG00000081138:ENST00000323011:exon7:c.G982A:p.E328K;	0.99864651309439	0.818
18	63511048	G	C	18	65843812	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.G982C:p.E328Q;CDH7:NM_004361:exon7:c.G982C:p.E328Q;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.G982C:p.E328Q;ENSG00000081138:ENST00000397968:exon7:c.G982C:p.E328Q;ENSG00000081138:ENST00000323011:exon7:c.G982C:p.E328Q;	0.999665121276869	0.992
18	63511048	G	T	18	65843812	y	y	exonic	CDH7	stopgain SNV	CDH7:NM_033646:exon7:c.G982T:p.E328X;CDH7:NM_004361:exon7:c.G982T:p.E328X;	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon7:c.G982T:p.E328X;ENSG00000081138:ENST00000397968:exon7:c.G982T:p.E328X;ENSG00000081138:ENST00000323011:exon7:c.G982T:p.E328X;	0.999785595352318	0.984
18	63511049	A	C	18	65843813	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.A983C:p.E328A;CDH7:NM_004361:exon7:c.A983C:p.E328A;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.A983C:p.E328A;ENSG00000081138:ENST00000397968:exon7:c.A983C:p.E328A;ENSG00000081138:ENST00000323011:exon7:c.A983C:p.E328A;	0.263795967226176	0.372
18	63511049	A	G	18	65843813	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.A983G:p.E328G;CDH7:NM_004361:exon7:c.A983G:p.E328G;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.A983G:p.E328G;ENSG00000081138:ENST00000397968:exon7:c.A983G:p.E328G;ENSG00000081138:ENST00000323011:exon7:c.A983G:p.E328G;	0.652733230691396	0.51
18	63511049	A	T	18	65843813	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.A983T:p.E328V;CDH7:NM_004361:exon7:c.A983T:p.E328V;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.A983T:p.E328V;ENSG00000081138:ENST00000397968:exon7:c.A983T:p.E328V;ENSG00000081138:ENST00000323011:exon7:c.A983T:p.E328V;	0.0664466383899071	0.5
18	63511299	G	A	18	65844063	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon7:c.G1233A:p.V411V;CDH7:NM_004361:exon7:c.G1233A:p.V411V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.G1233A:p.V411V;ENSG00000081138:ENST00000397968:exon7:c.G1233A:p.V411V;ENSG00000081138:ENST00000323011:exon7:c.G1233A:p.V411V;	0.00199951217178456	0.012
18	63511299	G	C	18	65844063	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon7:c.G1233C:p.V411V;CDH7:NM_004361:exon7:c.G1233C:p.V411V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.G1233C:p.V411V;ENSG00000081138:ENST00000397968:exon7:c.G1233C:p.V411V;ENSG00000081138:ENST00000323011:exon7:c.G1233C:p.V411V;	0.00178853101674293	0.024
18	63511299	G	T	18	65844063	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon7:c.G1233T:p.V411V;CDH7:NM_004361:exon7:c.G1233T:p.V411V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.G1233T:p.V411V;ENSG00000081138:ENST00000397968:exon7:c.G1233T:p.V411V;ENSG00000081138:ENST00000323011:exon7:c.G1233T:p.V411V;	0.251409459688864	0.338
18	63511300	A	C	18	65844064	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon7:c.A1234C:p.R412R;CDH7:NM_004361:exon7:c.A1234C:p.R412R;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.A1234C:p.R412R;ENSG00000081138:ENST00000397968:exon7:c.A1234C:p.R412R;ENSG00000081138:ENST00000323011:exon7:c.A1234C:p.R412R;	0.997118446600021	0.94
18	63511300	A	G	18	65844064	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.A1234G:p.R412G;CDH7:NM_004361:exon7:c.A1234G:p.R412G;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.A1234G:p.R412G;ENSG00000081138:ENST00000397968:exon7:c.A1234G:p.R412G;ENSG00000081138:ENST00000323011:exon7:c.A1234G:p.R412G;	0.999973100535452	0.99
18	63511300	A	T	18	65844064	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.A1234T:p.R412W;CDH7:NM_004361:exon7:c.A1234T:p.R412W;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.A1234T:p.R412W;ENSG00000081138:ENST00000397968:exon7:c.A1234T:p.R412W;ENSG00000081138:ENST00000323011:exon7:c.A1234T:p.R412W;	0.999944650885526	0.982
18	63511301	G	A	18	65844065	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.G1235A:p.R412K;CDH7:NM_004361:exon7:c.G1235A:p.R412K;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.G1235A:p.R412K;ENSG00000081138:ENST00000397968:exon7:c.G1235A:p.R412K;ENSG00000081138:ENST00000323011:exon7:c.G1235A:p.R412K;	0.999992664149185	1.0
18	63511301	G	C	18	65844065	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.G1235C:p.R412T;CDH7:NM_004361:exon7:c.G1235C:p.R412T;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.G1235C:p.R412T;ENSG00000081138:ENST00000397968:exon7:c.G1235C:p.R412T;ENSG00000081138:ENST00000323011:exon7:c.G1235C:p.R412T;	0.99999706064642	0.992
18	63511301	G	T	18	65844065	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon7:c.G1235T:p.R412M;CDH7:NM_004361:exon7:c.G1235T:p.R412M;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon7:c.G1235T:p.R412M;ENSG00000081138:ENST00000397968:exon7:c.G1235T:p.R412M;ENSG00000081138:ENST00000323011:exon7:c.G1235T:p.R412M;	0.999985794747845	0.968
18	63511302	G	A	18	65844066	y	y	splicing	CDH7(NM_033646:exon7:c.1235+1G>A;NM_004361:exon7:c.1235+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.1235+1G>A;ENST00000536984:exon7:c.1235+1G>A;ENST00000397968:exon7:c.1235+1G>A)	.	.	0.999981760802075	0.944
18	63511302	G	C	18	65844066	y	y	splicing	CDH7(NM_033646:exon7:c.1235+1G>C;NM_004361:exon7:c.1235+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.1235+1G>C;ENST00000536984:exon7:c.1235+1G>C;ENST00000397968:exon7:c.1235+1G>C)	.	.	0.999981760802075	0.944
18	63511302	G	T	18	65844066	y	y	splicing	CDH7(NM_033646:exon7:c.1235+1G>T;NM_004361:exon7:c.1235+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.1235+1G>T;ENST00000536984:exon7:c.1235+1G>T;ENST00000397968:exon7:c.1235+1G>T)	.	.	0.999981760802075	0.944
18	63511303	T	A	18	65844067	y	y	splicing	CDH7(NM_033646:exon7:c.1235+2T>A;NM_004361:exon7:c.1235+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.1235+2T>A;ENST00000536984:exon7:c.1235+2T>A;ENST00000397968:exon7:c.1235+2T>A)	.	.	0.999989917668626	0.926
18	63511303	T	C	18	65844067	y	y	splicing	CDH7(NM_033646:exon7:c.1235+2T>C;NM_004361:exon7:c.1235+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.1235+2T>C;ENST00000536984:exon7:c.1235+2T>C;ENST00000397968:exon7:c.1235+2T>C)	.	.	0.988809971481602	0.618
18	63511303	T	G	18	65844067	y	y	splicing	CDH7(NM_033646:exon7:c.1235+2T>G;NM_004361:exon7:c.1235+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon7:c.1235+2T>G;ENST00000536984:exon7:c.1235+2T>G;ENST00000397968:exon7:c.1235+2T>G)	.	.	0.999989917668626	0.926
18	63511304	A	C	18	65844068	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999752089925482	0.954
18	63511304	A	G	18	65844068	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.988373998490995	0.862
18	63511304	A	T	18	65844068	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999797287520956	0.962
18	63511305	A	C	18	65844069	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.525673636733177	0.61
18	63511305	A	G	18	65844069	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.927982176580329	0.754
18	63511305	A	T	18	65844069	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.151766911105672	0.46
18	63511306	A	C	18	65844070	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.52324744344446E-4	0.02
18	63511306	A	G	18	65844070	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.26850286308988E-4	0.056
18	63511306	A	T	18	65844070	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.30642822149988E-4	0.006
18	63511307	A	C	18	65844071	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.52875072365027E-5	0.014
18	63511307	A	G	18	65844071	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.51650162238602E-5	0.0
18	63511307	A	T	18	65844071	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.07269276461887E-5	0.0
18	63511308	A	C	18	65844072	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.2478317237867E-4	0.0
18	63511308	A	G	18	65844072	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.35694150842375E-4	0.004
18	63511308	A	T	18	65844072	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.86591949010533E-4	0.03
18	63511309	C	A	18	65844073	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.0662774276215E-5	0.0
18	63511309	C	G	18	65844073	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.50657968586937E-5	0.0
18	63511309	C	T	18	65844073	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.07424820414716E-4	0.0
18	63525040	A	C	18	65857804	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.88282742204909E-5	0.044
18	63525040	A	G	18	65857804	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.995634140898463	0.916
18	63525040	A	T	18	65857804	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.98651008459611E-4	0.104
18	63525041	T	A	18	65857805	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999982209851479	0.98
18	63525041	T	C	18	65857805	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.984192569398011	0.616
18	63525041	T	G	18	65857805	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999987172922845	0.984
18	63525042	G	A	18	65857806	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.5568803052568E-4	0.108
18	63525042	G	C	18	65857806	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.64929975152511E-5	0.012
18	63525042	G	T	18	65857806	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.50260996679104E-5	0.058
18	63525043	T	A	18	65857807	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999367948564878	0.942
18	63525043	T	C	18	65857807	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0758859038126259	0.42
18	63525043	T	G	18	65857807	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999128710847959	0.908
18	63525044	T	A	18	65857808	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00463038119303039	0.164
18	63525044	T	C	18	65857808	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.45406215193261E-5	0.0
18	63525044	T	G	18	65857808	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.29871285957679E-4	0.156
18	63525045	C	A	18	65857809	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0145617360367835	0.302
18	63525045	C	G	18	65857809	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00874939545493754	0.26
18	63525045	C	T	18	65857809	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.76830506442212E-4	0.006
18	63525046	A	C	18	65857810	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.30470186479218E-4	0.02
18	63525046	A	G	18	65857810	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00158158016558538	0.058
18	63525046	A	T	18	65857810	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.83221218127077E-4	0.016
18	63525047	A	C	18	65857811	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.32892479806407E-4	0.056
18	63525047	A	G	18	65857811	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.99866824326743	0.964
18	63525047	A	T	18	65857811	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.642622838738E-4	0.094
18	63525048	T	A	18	65857812	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00239126627471911	0.01
18	63525048	T	C	18	65857812	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.65484911332102E-4	0.014
18	63525048	T	G	18	65857812	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.962210244099806	0.734
18	63525049	T	A	18	65857813	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.75253367687874	0.586
18	63525049	T	C	18	65857813	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.80588623205861E-4	0.08
18	63525049	T	G	18	65857813	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999351852456574	0.792
18	63525050	A	C	18	65857814	y	y	splicing	CDH7(NM_033646:exon8:c.1236-2A>C;NM_004361:exon8:c.1236-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1236-2A>C;ENST00000536984:exon8:c.1236-2A>C;ENST00000397968:exon8:c.1236-2A>C)	.	.	0.999988624979899	0.936
18	63525050	A	G	18	65857814	y	y	splicing	CDH7(NM_033646:exon8:c.1236-2A>G;NM_004361:exon8:c.1236-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1236-2A>G;ENST00000536984:exon8:c.1236-2A>G;ENST00000397968:exon8:c.1236-2A>G)	.	.	0.999988624979899	0.936
18	63525050	A	T	18	65857814	y	y	splicing	CDH7(NM_033646:exon8:c.1236-2A>T;NM_004361:exon8:c.1236-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1236-2A>T;ENST00000536984:exon8:c.1236-2A>T;ENST00000397968:exon8:c.1236-2A>T)	.	.	0.999988624979899	0.936
18	63525051	G	A	18	65857815	y	y	splicing	CDH7(NM_033646:exon8:c.1236-1G>A;NM_004361:exon8:c.1236-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1236-1G>A;ENST00000536984:exon8:c.1236-1G>A;ENST00000397968:exon8:c.1236-1G>A)	.	.	0.999984967332678	0.94
18	63525051	G	C	18	65857815	y	y	splicing	CDH7(NM_033646:exon8:c.1236-1G>C;NM_004361:exon8:c.1236-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1236-1G>C;ENST00000536984:exon8:c.1236-1G>C;ENST00000397968:exon8:c.1236-1G>C)	.	.	0.999984967332678	0.94
18	63525051	G	T	18	65857815	y	y	splicing	CDH7(NM_033646:exon8:c.1236-1G>T;NM_004361:exon8:c.1236-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1236-1G>T;ENST00000536984:exon8:c.1236-1G>T;ENST00000397968:exon8:c.1236-1G>T)	.	.	0.999984967332678	0.94
18	63525052	G	A	18	65857816	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon8:c.G1236A:p.R412R;CDH7:NM_004361:exon8:c.G1236A:p.R412R;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.G1236A:p.R412R;ENSG00000081138:ENST00000397968:exon8:c.G1236A:p.R412R;ENSG00000081138:ENST00000323011:exon8:c.G1236A:p.R412R;	0.342988918014348	0.598
18	63525052	G	C	18	65857816	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.G1236C:p.R412S;CDH7:NM_004361:exon8:c.G1236C:p.R412S;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.G1236C:p.R412S;ENSG00000081138:ENST00000397968:exon8:c.G1236C:p.R412S;ENSG00000081138:ENST00000323011:exon8:c.G1236C:p.R412S;	0.999698257179238	0.952
18	63525052	G	T	18	65857816	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.G1236T:p.R412S;CDH7:NM_004361:exon8:c.G1236T:p.R412S;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.G1236T:p.R412S;ENSG00000081138:ENST00000397968:exon8:c.G1236T:p.R412S;ENSG00000081138:ENST00000323011:exon8:c.G1236T:p.R412S;	0.999723591341311	0.976
18	63525053	T	A	18	65857817	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.T1237A:p.Y413N;CDH7:NM_004361:exon8:c.T1237A:p.Y413N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.T1237A:p.Y413N;ENSG00000081138:ENST00000397968:exon8:c.T1237A:p.Y413N;ENSG00000081138:ENST00000323011:exon8:c.T1237A:p.Y413N;	0.434545644120686	0.418
18	63525053	T	C	18	65857817	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.T1237C:p.Y413H;CDH7:NM_004361:exon8:c.T1237C:p.Y413H;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.T1237C:p.Y413H;ENSG00000081138:ENST00000397968:exon8:c.T1237C:p.Y413H;ENSG00000081138:ENST00000323011:exon8:c.T1237C:p.Y413H;	0.470707643582612	0.402
18	63525053	T	G	18	65857817	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.T1237G:p.Y413D;CDH7:NM_004361:exon8:c.T1237G:p.Y413D;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.T1237G:p.Y413D;ENSG00000081138:ENST00000397968:exon8:c.T1237G:p.Y413D;ENSG00000081138:ENST00000323011:exon8:c.T1237G:p.Y413D;	0.411322592564735	0.34
18	63525186	G	A	18	65857950	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.G1370A:p.S457N;CDH7:NM_004361:exon8:c.G1370A:p.S457N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.G1370A:p.S457N;ENSG00000081138:ENST00000397968:exon8:c.G1370A:p.S457N;ENSG00000081138:ENST00000323011:exon8:c.G1370A:p.S457N;	2.72382870013758E-4	0.004
18	63525186	G	C	18	65857950	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.G1370C:p.S457T;CDH7:NM_004361:exon8:c.G1370C:p.S457T;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.G1370C:p.S457T;ENSG00000081138:ENST00000397968:exon8:c.G1370C:p.S457T;ENSG00000081138:ENST00000323011:exon8:c.G1370C:p.S457T;	3.73494219567218E-4	0.008
18	63525186	G	T	18	65857950	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.G1370T:p.S457I;CDH7:NM_004361:exon8:c.G1370T:p.S457I;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.G1370T:p.S457I;ENSG00000081138:ENST00000397968:exon8:c.G1370T:p.S457I;ENSG00000081138:ENST00000323011:exon8:c.G1370T:p.S457I;	7.13922215850963E-4	0.038
18	63525187	C	A	18	65857951	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.C1371A:p.S457R;CDH7:NM_004361:exon8:c.C1371A:p.S457R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.C1371A:p.S457R;ENSG00000081138:ENST00000397968:exon8:c.C1371A:p.S457R;ENSG00000081138:ENST00000323011:exon8:c.C1371A:p.S457R;	9.73519130714713E-5	0.066
18	63525187	C	G	18	65857951	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.C1371G:p.S457R;CDH7:NM_004361:exon8:c.C1371G:p.S457R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.C1371G:p.S457R;ENSG00000081138:ENST00000397968:exon8:c.C1371G:p.S457R;ENSG00000081138:ENST00000323011:exon8:c.C1371G:p.S457R;	2.57219698020361E-4	0.086
18	63525187	C	T	18	65857951	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon8:c.C1371T:p.S457S;CDH7:NM_004361:exon8:c.C1371T:p.S457S;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.C1371T:p.S457S;ENSG00000081138:ENST00000397968:exon8:c.C1371T:p.S457S;ENSG00000081138:ENST00000323011:exon8:c.C1371T:p.S457S;	4.77943116729525E-4	0.038
18	63525188	C	A	18	65857952	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.C1372A:p.Q458K;CDH7:NM_004361:exon8:c.C1372A:p.Q458K;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.C1372A:p.Q458K;ENSG00000081138:ENST00000397968:exon8:c.C1372A:p.Q458K;ENSG00000081138:ENST00000323011:exon8:c.C1372A:p.Q458K;	0.0168477764231709	0.106
18	63525188	C	G	18	65857952	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon8:c.C1372G:p.Q458E;CDH7:NM_004361:exon8:c.C1372G:p.Q458E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon8:c.C1372G:p.Q458E;ENSG00000081138:ENST00000397968:exon8:c.C1372G:p.Q458E;ENSG00000081138:ENST00000323011:exon8:c.C1372G:p.Q458E;	6.99666699327291E-4	0.064
18	63525188	C	T	18	65857952	y	y	exonic	CDH7	stopgain SNV	CDH7:NM_033646:exon8:c.C1372T:p.Q458X;CDH7:NM_004361:exon8:c.C1372T:p.Q458X;	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon8:c.C1372T:p.Q458X;ENSG00000081138:ENST00000397968:exon8:c.C1372T:p.Q458X;ENSG00000081138:ENST00000323011:exon8:c.C1372T:p.Q458X;	0.991264550037786	0.834
18	63525189	G	A	18	65857953	y	y	splicing	CDH7(NM_033646:exon8:c.1372+1G>A;NM_004361:exon8:c.1372+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1372+1G>A;ENST00000536984:exon8:c.1372+1G>A;ENST00000397968:exon8:c.1372+1G>A)	.	.	0.999986675681007	0.934
18	63525189	G	C	18	65857953	y	y	splicing	CDH7(NM_033646:exon8:c.1372+1G>C;NM_004361:exon8:c.1372+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1372+1G>C;ENST00000536984:exon8:c.1372+1G>C;ENST00000397968:exon8:c.1372+1G>C)	.	.	0.999986675681007	0.934
18	63525189	G	T	18	65857953	y	y	splicing	CDH7(NM_033646:exon8:c.1372+1G>T;NM_004361:exon8:c.1372+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1372+1G>T;ENST00000536984:exon8:c.1372+1G>T;ENST00000397968:exon8:c.1372+1G>T)	.	.	0.999986675681007	0.934
18	63525190	T	A	18	65857954	y	y	splicing	CDH7(NM_033646:exon8:c.1372+2T>A;NM_004361:exon8:c.1372+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1372+2T>A;ENST00000536984:exon8:c.1372+2T>A;ENST00000397968:exon8:c.1372+2T>A)	.	.	0.999989917668626	0.926
18	63525190	T	C	18	65857954	y	y	splicing	CDH7(NM_033646:exon8:c.1372+2T>C;NM_004361:exon8:c.1372+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1372+2T>C;ENST00000536984:exon8:c.1372+2T>C;ENST00000397968:exon8:c.1372+2T>C)	.	.	0.988042962918841	0.614
18	63525190	T	G	18	65857954	y	y	splicing	CDH7(NM_033646:exon8:c.1372+2T>G;NM_004361:exon8:c.1372+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon8:c.1372+2T>G;ENST00000536984:exon8:c.1372+2T>G;ENST00000397968:exon8:c.1372+2T>G)	.	.	0.999989917668626	0.926
18	63525191	A	C	18	65857955	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998233782547649	0.88
18	63525191	A	G	18	65857955	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.351521822018315	0.368
18	63525191	A	T	18	65857955	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999722755703229	0.868
18	63525192	A	C	18	65857956	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.925145873537173	0.706
18	63525192	A	G	18	65857956	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.98198600634161	0.84
18	63525192	A	T	18	65857956	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.989532665620229	0.886
18	63525193	G	A	18	65857957	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999982420411181	0.974
18	63525193	G	C	18	65857957	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999989410994548	0.896
18	63525193	G	T	18	65857957	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999978098829044	0.944
18	63525194	T	A	18	65857958	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.97446663533766	0.718
18	63525194	T	C	18	65857958	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.992827350423807	0.838
18	63525194	T	G	18	65857958	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.980361078504035	0.774
18	63525195	T	A	18	65857959	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.28178001466556E-4	0.0
18	63525195	T	C	18	65857959	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.48488932177648E-4	0.016
18	63525195	T	G	18	65857959	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.48488932177648E-4	0.012
18	63525196	G	A	18	65857960	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.2346844274108E-4	0.016
18	63525196	G	C	18	65857960	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.4191025533289E-5	0.01
18	63525196	G	T	18	65857960	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.09506374720607E-5	0.008
18	63526149	C	A	18	65858913	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0168628216309248	0.114
18	63526149	C	G	18	65858913	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0068714374570732	0.172
18	63526149	C	T	18	65858913	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.08206022639968E-4	0.022
18	63526150	T	A	18	65858914	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.442948249318044	0.534
18	63526150	T	C	18	65858914	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.39890118769669E-4	0.144
18	63526150	T	G	18	65858914	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.289443035383233	0.594
18	63526151	T	A	18	65858915	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.587104441579251	0.596
18	63526151	T	C	18	65858915	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0103220684860954	0.194
18	63526151	T	G	18	65858915	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.157993992950166	0.496
18	63526152	A	C	18	65858916	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.41278773568521E-5	0.002
18	63526152	A	G	18	65858916	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.13084041696344E-4	0.01
18	63526152	A	T	18	65858916	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.01774956877547E-5	0.002
18	63526153	T	A	18	65858917	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.127041871471708	0.346
18	63526153	T	C	18	65858917	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00102362973324196	0.018
18	63526153	T	G	18	65858917	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999931650931728	0.988
18	63526154	T	A	18	65858918	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00465902925322635	0.14
18	63526154	T	C	18	65858918	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.03874706654734E-4	0.018
18	63526154	T	G	18	65858918	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00869875149631872	0.166
18	63526155	T	A	18	65858919	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0207409527003472	0.296
18	63526155	T	C	18	65858919	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.52214874121648E-4	0.05
18	63526155	T	G	18	65858919	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0418725923940926	0.316
18	63526156	A	C	18	65858920	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.00684534904205E-5	0.006
18	63526156	A	G	18	65858920	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.09097044067147E-4	0.038
18	63526156	A	T	18	65858920	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.23376980759573E-5	0.034
18	63526157	T	A	18	65858921	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.93892543464275E-4	0.0
18	63526157	T	C	18	65858921	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.04723094379498E-4	0.018
18	63526157	T	G	18	65858921	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998012725209369	0.952
18	63526158	T	A	18	65858922	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0607580377375861	0.382
18	63526158	T	C	18	65858922	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.10297344935809E-4	0.148
18	63526158	T	G	18	65858922	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.996312434203105	0.69
18	63526159	A	C	18	65858923	y	y	splicing	CDH7(NM_033646:exon9:c.1373-2A>C;NM_004361:exon9:c.1373-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1373-2A>C;ENST00000536984:exon9:c.1373-2A>C;ENST00000397968:exon9:c.1373-2A>C)	.	.	0.999994064153128	0.934
18	63526159	A	G	18	65858923	y	y	splicing	CDH7(NM_033646:exon9:c.1373-2A>G;NM_004361:exon9:c.1373-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1373-2A>G;ENST00000536984:exon9:c.1373-2A>G;ENST00000397968:exon9:c.1373-2A>G)	.	.	0.999994064153128	0.934
18	63526159	A	T	18	65858923	y	y	splicing	CDH7(NM_033646:exon9:c.1373-2A>T;NM_004361:exon9:c.1373-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1373-2A>T;ENST00000536984:exon9:c.1373-2A>T;ENST00000397968:exon9:c.1373-2A>T)	.	.	0.999994064153128	0.934
18	63526160	G	A	18	65858924	y	y	splicing	CDH7(NM_033646:exon9:c.1373-1G>A;NM_004361:exon9:c.1373-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1373-1G>A;ENST00000536984:exon9:c.1373-1G>A;ENST00000397968:exon9:c.1373-1G>A)	.	.	0.999990764389106	0.926
18	63526160	G	C	18	65858924	y	y	splicing	CDH7(NM_033646:exon9:c.1373-1G>C;NM_004361:exon9:c.1373-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1373-1G>C;ENST00000536984:exon9:c.1373-1G>C;ENST00000397968:exon9:c.1373-1G>C)	.	.	0.999990764389106	0.926
18	63526160	G	T	18	65858924	y	y	splicing	CDH7(NM_033646:exon9:c.1373-1G>T;NM_004361:exon9:c.1373-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1373-1G>T;ENST00000536984:exon9:c.1373-1G>T;ENST00000397968:exon9:c.1373-1G>T)	.	.	0.999990764389106	0.926
18	63526161	A	C	18	65858925	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.A1373C:p.Q458P;CDH7:NM_004361:exon9:c.A1373C:p.Q458P;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.A1373C:p.Q458P;ENSG00000081138:ENST00000397968:exon9:c.A1373C:p.Q458P;ENSG00000081138:ENST00000323011:exon9:c.A1373C:p.Q458P;	0.850714881276414	0.484
18	63526161	A	G	18	65858925	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.A1373G:p.Q458R;CDH7:NM_004361:exon9:c.A1373G:p.Q458R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.A1373G:p.Q458R;ENSG00000081138:ENST00000397968:exon9:c.A1373G:p.Q458R;ENSG00000081138:ENST00000323011:exon9:c.A1373G:p.Q458R;	0.00285073180695655	0.028
18	63526161	A	T	18	65858925	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.A1373T:p.Q458L;CDH7:NM_004361:exon9:c.A1373T:p.Q458L;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.A1373T:p.Q458L;ENSG00000081138:ENST00000397968:exon9:c.A1373T:p.Q458L;ENSG00000081138:ENST00000323011:exon9:c.A1373T:p.Q458L;	0.601705413492115	0.384
18	63526162	G	A	18	65858926	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon9:c.G1374A:p.Q458Q;CDH7:NM_004361:exon9:c.G1374A:p.Q458Q;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.G1374A:p.Q458Q;ENSG00000081138:ENST00000397968:exon9:c.G1374A:p.Q458Q;ENSG00000081138:ENST00000323011:exon9:c.G1374A:p.Q458Q;	0.0338334768726286	0.208
18	63526162	G	C	18	65858926	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.G1374C:p.Q458H;CDH7:NM_004361:exon9:c.G1374C:p.Q458H;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.G1374C:p.Q458H;ENSG00000081138:ENST00000397968:exon9:c.G1374C:p.Q458H;ENSG00000081138:ENST00000323011:exon9:c.G1374C:p.Q458H;	0.0171782204938727	0.154
18	63526162	G	T	18	65858926	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.G1374T:p.Q458H;CDH7:NM_004361:exon9:c.G1374T:p.Q458H;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.G1374T:p.Q458H;ENSG00000081138:ENST00000397968:exon9:c.G1374T:p.Q458H;ENSG00000081138:ENST00000323011:exon9:c.G1374T:p.Q458H;	0.00304582094896786	0.052
18	63526280	C	A	18	65859044	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.C1492A:p.Q498K;CDH7:NM_004361:exon9:c.C1492A:p.Q498K;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.C1492A:p.Q498K;ENSG00000081138:ENST00000397968:exon9:c.C1492A:p.Q498K;ENSG00000081138:ENST00000323011:exon9:c.C1492A:p.Q498K;	0.812729838665984	0.7
18	63526280	C	G	18	65859044	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.C1492G:p.Q498E;CDH7:NM_004361:exon9:c.C1492G:p.Q498E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.C1492G:p.Q498E;ENSG00000081138:ENST00000397968:exon9:c.C1492G:p.Q498E;ENSG00000081138:ENST00000323011:exon9:c.C1492G:p.Q498E;	0.816145212677414	0.54
18	63526280	C	T	18	65859044	y	y	exonic	CDH7	stopgain SNV	CDH7:NM_033646:exon9:c.C1492T:p.Q498X;CDH7:NM_004361:exon9:c.C1492T:p.Q498X;	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon9:c.C1492T:p.Q498X;ENSG00000081138:ENST00000397968:exon9:c.C1492T:p.Q498X;ENSG00000081138:ENST00000323011:exon9:c.C1492T:p.Q498X;	0.997662782921203	0.794
18	63526281	A	C	18	65859045	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.A1493C:p.Q498P;CDH7:NM_004361:exon9:c.A1493C:p.Q498P;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.A1493C:p.Q498P;ENSG00000081138:ENST00000397968:exon9:c.A1493C:p.Q498P;ENSG00000081138:ENST00000323011:exon9:c.A1493C:p.Q498P;	0.998438714578135	0.922
18	63526281	A	G	18	65859045	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.A1493G:p.Q498R;CDH7:NM_004361:exon9:c.A1493G:p.Q498R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.A1493G:p.Q498R;ENSG00000081138:ENST00000397968:exon9:c.A1493G:p.Q498R;ENSG00000081138:ENST00000323011:exon9:c.A1493G:p.Q498R;	0.999549397479235	0.968
18	63526281	A	T	18	65859045	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.A1493T:p.Q498L;CDH7:NM_004361:exon9:c.A1493T:p.Q498L;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.A1493T:p.Q498L;ENSG00000081138:ENST00000397968:exon9:c.A1493T:p.Q498L;ENSG00000081138:ENST00000323011:exon9:c.A1493T:p.Q498L;	0.999703535762309	0.868
18	63526282	G	A	18	65859046	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon9:c.G1494A:p.Q498Q;CDH7:NM_004361:exon9:c.G1494A:p.Q498Q;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.G1494A:p.Q498Q;ENSG00000081138:ENST00000397968:exon9:c.G1494A:p.Q498Q;ENSG00000081138:ENST00000323011:exon9:c.G1494A:p.Q498Q;	0.98919702947541	0.808
18	63526282	G	C	18	65859046	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.G1494C:p.Q498H;CDH7:NM_004361:exon9:c.G1494C:p.Q498H;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.G1494C:p.Q498H;ENSG00000081138:ENST00000397968:exon9:c.G1494C:p.Q498H;ENSG00000081138:ENST00000323011:exon9:c.G1494C:p.Q498H;	0.99969680937128	0.888
18	63526282	G	T	18	65859046	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon9:c.G1494T:p.Q498H;CDH7:NM_004361:exon9:c.G1494T:p.Q498H;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon9:c.G1494T:p.Q498H;ENSG00000081138:ENST00000397968:exon9:c.G1494T:p.Q498H;ENSG00000081138:ENST00000323011:exon9:c.G1494T:p.Q498H;	0.999867115422897	0.93
18	63526283	G	A	18	65859047	y	y	splicing	CDH7(NM_033646:exon9:c.1494+1G>A;NM_004361:exon9:c.1494+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1494+1G>A;ENST00000536984:exon9:c.1494+1G>A;ENST00000397968:exon9:c.1494+1G>A)	.	.	0.999988247793601	0.926
18	63526283	G	C	18	65859047	y	y	splicing	CDH7(NM_033646:exon9:c.1494+1G>C;NM_004361:exon9:c.1494+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1494+1G>C;ENST00000536984:exon9:c.1494+1G>C;ENST00000397968:exon9:c.1494+1G>C)	.	.	0.999988247793601	0.926
18	63526283	G	T	18	65859047	y	y	splicing	CDH7(NM_033646:exon9:c.1494+1G>T;NM_004361:exon9:c.1494+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1494+1G>T;ENST00000536984:exon9:c.1494+1G>T;ENST00000397968:exon9:c.1494+1G>T)	.	.	0.999988247793601	0.926
18	63526284	T	A	18	65859048	y	y	splicing	CDH7(NM_033646:exon9:c.1494+2T>A;NM_004361:exon9:c.1494+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1494+2T>A;ENST00000536984:exon9:c.1494+2T>A;ENST00000397968:exon9:c.1494+2T>A)	.	.	0.999992446697775	0.93
18	63526284	T	C	18	65859048	y	y	splicing	CDH7(NM_033646:exon9:c.1494+2T>C;NM_004361:exon9:c.1494+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1494+2T>C;ENST00000536984:exon9:c.1494+2T>C;ENST00000397968:exon9:c.1494+2T>C)	.	.	0.993808943985639	0.634
18	63526284	T	G	18	65859048	y	y	splicing	CDH7(NM_033646:exon9:c.1494+2T>G;NM_004361:exon9:c.1494+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon9:c.1494+2T>G;ENST00000536984:exon9:c.1494+2T>G;ENST00000397968:exon9:c.1494+2T>G)	.	.	0.999992446697775	0.93
18	63526285	A	C	18	65859049	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.920271747973772	0.62
18	63526285	A	G	18	65859049	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0015283852414218	0.178
18	63526285	A	T	18	65859049	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.970429322802077	0.6
18	63526286	A	C	18	65859050	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.77211909438968	0.438
18	63526286	A	G	18	65859050	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.842308515663772	0.522
18	63526286	A	T	18	65859050	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.910285639605279	0.464
18	63526287	G	A	18	65859051	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.968461587176616	0.608
18	63526287	G	C	18	65859051	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.942407764287063	0.578
18	63526287	G	T	18	65859051	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.963583690255156	0.594
18	63526288	A	C	18	65859052	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.39990016983864E-4	0.02
18	63526288	A	G	18	65859052	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.2790107632866E-5	0.0
18	63526288	A	T	18	65859052	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.56705247447953E-5	0.006
18	63526289	G	A	18	65859053	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.83319824895334E-4	0.0
18	63526289	G	C	18	65859053	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.26382326813264E-4	0.0
18	63526289	G	T	18	65859053	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.49858567531494E-4	0.0
18	63526290	T	A	18	65859054	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.00502196046998E-4	0.006
18	63526290	T	C	18	65859054	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.10015438822061E-4	0.006
18	63526290	T	G	18	65859054	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.38498433933773E-4	0.004
18	63526932	C	A	18	65859696	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.56989115666515E-5	0.002
18	63526932	C	G	18	65859696	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.57577564146592E-5	0.008
18	63526932	C	T	18	65859696	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.29568602019923E-5	0.002
18	63526933	T	A	18	65859697	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.45914967014678E-4	0.166
18	63526933	T	C	18	65859697	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.66550450856934E-4	0.062
18	63526933	T	G	18	65859697	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.46919399350745E-4	0.168
18	63526934	C	A	18	65859698	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.80550171805179E-4	0.034
18	63526934	C	G	18	65859698	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.29081366240594E-5	0.03
18	63526934	C	T	18	65859698	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.07068860319114E-5	0.006
18	63526935	T	A	18	65859699	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.8690596575618E-5	0.048
18	63526935	T	C	18	65859699	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.99997816327728E-5	0.004
18	63526935	T	G	18	65859699	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	8.48296504130304E-5	0.066
18	63526936	T	A	18	65859700	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.6930698628939E-6	0.008
18	63526936	T	C	18	65859700	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	9.05806258236063E-6	0.0
18	63526936	T	G	18	65859700	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.87358110093748E-5	0.016
18	63526937	T	A	18	65859701	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.53756946063592E-5	0.002
18	63526937	T	C	18	65859701	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.60778579970812E-5	0.0
18	63526937	T	G	18	65859701	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.46134973004156E-5	0.002
18	63526938	T	A	18	65859702	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.30715636528212E-5	0.022
18	63526938	T	C	18	65859702	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.48219729556264E-5	0.0
18	63526938	T	G	18	65859702	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.50279131203807E-5	0.03
18	63526939	C	A	18	65859703	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.97382820699656E-4	0.018
18	63526939	C	G	18	65859703	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.26388798475121E-5	0.026
18	63526939	C	T	18	65859703	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.23151576579136E-4	0.004
18	63526940	C	A	18	65859704	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.24455595149877E-4	0.026
18	63526940	C	G	18	65859704	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.09397381329419E-4	0.034
18	63526940	C	T	18	65859704	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.24455595149877E-4	0.03
18	63526941	T	A	18	65859705	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.02679232385057E-4	0.134
18	63526941	T	C	18	65859705	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.06774401463417E-5	0.004
18	63526941	T	G	18	65859705	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00840583281599511	0.354
18	63526942	A	C	18	65859706	y	y	splicing	CDH7(NM_033646:exon10:c.1495-2A>C;NM_004361:exon10:c.1495-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1495-2A>C;ENST00000536984:exon10:c.1495-2A>C;ENST00000397968:exon10:c.1495-2A>C)	.	.	0.999946188727699	0.936
18	63526942	A	G	18	65859706	y	y	splicing	CDH7(NM_033646:exon10:c.1495-2A>G;NM_004361:exon10:c.1495-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1495-2A>G;ENST00000536984:exon10:c.1495-2A>G;ENST00000397968:exon10:c.1495-2A>G)	.	.	0.999946188727699	0.936
18	63526942	A	T	18	65859706	y	y	splicing	CDH7(NM_033646:exon10:c.1495-2A>T;NM_004361:exon10:c.1495-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1495-2A>T;ENST00000536984:exon10:c.1495-2A>T;ENST00000397968:exon10:c.1495-2A>T)	.	.	0.999946188727699	0.912
18	63526943	G	A	18	65859707	y	y	splicing	CDH7(NM_033646:exon10:c.1495-1G>A;NM_004361:exon10:c.1495-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1495-1G>A;ENST00000536984:exon10:c.1495-1G>A;ENST00000397968:exon10:c.1495-1G>A)	.	.	0.999949496871441	0.946
18	63526943	G	C	18	65859707	y	y	splicing	CDH7(NM_033646:exon10:c.1495-1G>C;NM_004361:exon10:c.1495-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1495-1G>C;ENST00000536984:exon10:c.1495-1G>C;ENST00000397968:exon10:c.1495-1G>C)	.	.	0.999949962508874	0.946
18	63526943	G	T	18	65859707	y	y	splicing	CDH7(NM_033646:exon10:c.1495-1G>T;NM_004361:exon10:c.1495-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1495-1G>T;ENST00000536984:exon10:c.1495-1G>T;ENST00000397968:exon10:c.1495-1G>T)	.	.	0.999949496871441	0.946
18	63526944	G	A	18	65859708	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.G1495A:p.V499I;CDH7:NM_004361:exon10:c.G1495A:p.V499I;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.G1495A:p.V499I;ENSG00000081138:ENST00000397968:exon10:c.G1495A:p.V499I;ENSG00000081138:ENST00000323011:exon10:c.G1495A:p.V499I;	6.56593887961333E-4	0.116
18	63526944	G	C	18	65859708	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.G1495C:p.V499L;CDH7:NM_004361:exon10:c.G1495C:p.V499L;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.G1495C:p.V499L;ENSG00000081138:ENST00000397968:exon10:c.G1495C:p.V499L;ENSG00000081138:ENST00000323011:exon10:c.G1495C:p.V499L;	0.0450021937707045	0.28
18	63526944	G	T	18	65859708	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.G1495T:p.V499F;CDH7:NM_004361:exon10:c.G1495T:p.V499F;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.G1495T:p.V499F;ENSG00000081138:ENST00000397968:exon10:c.G1495T:p.V499F;ENSG00000081138:ENST00000323011:exon10:c.G1495T:p.V499F;	0.174250031520474	0.446
18	63526945	T	A	18	65859709	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.T1496A:p.V499D;CDH7:NM_004361:exon10:c.T1496A:p.V499D;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.T1496A:p.V499D;ENSG00000081138:ENST00000397968:exon10:c.T1496A:p.V499D;ENSG00000081138:ENST00000323011:exon10:c.T1496A:p.V499D;	0.18213830998132	0.382
18	63526945	T	C	18	65859709	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.T1496C:p.V499A;CDH7:NM_004361:exon10:c.T1496C:p.V499A;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.T1496C:p.V499A;ENSG00000081138:ENST00000397968:exon10:c.T1496C:p.V499A;ENSG00000081138:ENST00000323011:exon10:c.T1496C:p.V499A;	0.0589381309666491	0.25
18	63526945	T	G	18	65859709	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.T1496G:p.V499G;CDH7:NM_004361:exon10:c.T1496G:p.V499G;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.T1496G:p.V499G;ENSG00000081138:ENST00000397968:exon10:c.T1496G:p.V499G;ENSG00000081138:ENST00000323011:exon10:c.T1496G:p.V499G;	0.147201618151397	0.38
18	63527059	A	C	18	65859823	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.A1610C:p.K537T;CDH7:NM_004361:exon10:c.A1610C:p.K537T;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.A1610C:p.K537T;ENSG00000081138:ENST00000397968:exon10:c.A1610C:p.K537T;ENSG00000081138:ENST00000323011:exon10:c.A1610C:p.K537T;	0.839393444065805	0.676
18	63527059	A	G	18	65859823	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.A1610G:p.K537R;CDH7:NM_004361:exon10:c.A1610G:p.K537R;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.A1610G:p.K537R;ENSG00000081138:ENST00000397968:exon10:c.A1610G:p.K537R;ENSG00000081138:ENST00000323011:exon10:c.A1610G:p.K537R;	0.00111458061527639	0.048
18	63527059	A	T	18	65859823	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.A1610T:p.K537I;CDH7:NM_004361:exon10:c.A1610T:p.K537I;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.A1610T:p.K537I;ENSG00000081138:ENST00000397968:exon10:c.A1610T:p.K537I;ENSG00000081138:ENST00000323011:exon10:c.A1610T:p.K537I;	0.995718207595879	0.726
18	63527060	A	C	18	65859824	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.A1611C:p.K537N;CDH7:NM_004361:exon10:c.A1611C:p.K537N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.A1611C:p.K537N;ENSG00000081138:ENST00000397968:exon10:c.A1611C:p.K537N;ENSG00000081138:ENST00000323011:exon10:c.A1611C:p.K537N;	0.999201963259122	0.974
18	63527060	A	G	18	65859824	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon10:c.A1611G:p.K537K;CDH7:NM_004361:exon10:c.A1611G:p.K537K;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.A1611G:p.K537K;ENSG00000081138:ENST00000397968:exon10:c.A1611G:p.K537K;ENSG00000081138:ENST00000323011:exon10:c.A1611G:p.K537K;	0.999501428863843	0.99
18	63527060	A	T	18	65859824	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.A1611T:p.K537N;CDH7:NM_004361:exon10:c.A1611T:p.K537N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.A1611T:p.K537N;ENSG00000081138:ENST00000397968:exon10:c.A1611T:p.K537N;ENSG00000081138:ENST00000323011:exon10:c.A1611T:p.K537N;	0.999826630863603	0.986
18	63527061	G	A	18	65859825	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.G1612A:p.D538N;CDH7:NM_004361:exon10:c.G1612A:p.D538N;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.G1612A:p.D538N;ENSG00000081138:ENST00000397968:exon10:c.G1612A:p.D538N;ENSG00000081138:ENST00000323011:exon10:c.G1612A:p.D538N;	0.999993449494972	1.0
18	63527061	G	C	18	65859825	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.G1612C:p.D538H;CDH7:NM_004361:exon10:c.G1612C:p.D538H;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.G1612C:p.D538H;ENSG00000081138:ENST00000397968:exon10:c.G1612C:p.D538H;ENSG00000081138:ENST00000323011:exon10:c.G1612C:p.D538H;	0.999997128302392	0.994
18	63527061	G	T	18	65859825	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon10:c.G1612T:p.D538Y;CDH7:NM_004361:exon10:c.G1612T:p.D538Y;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon10:c.G1612T:p.D538Y;ENSG00000081138:ENST00000397968:exon10:c.G1612T:p.D538Y;ENSG00000081138:ENST00000323011:exon10:c.G1612T:p.D538Y;	0.999988452656952	0.992
18	63527062	G	A	18	65859826	y	y	splicing	CDH7(NM_033646:exon10:c.1612+1G>A;NM_004361:exon10:c.1612+1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1612+1G>A;ENST00000536984:exon10:c.1612+1G>A;ENST00000397968:exon10:c.1612+1G>A)	.	.	0.999989072007339	0.934
18	63527062	G	C	18	65859826	y	y	splicing	CDH7(NM_033646:exon10:c.1612+1G>C;NM_004361:exon10:c.1612+1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1612+1G>C;ENST00000536984:exon10:c.1612+1G>C;ENST00000397968:exon10:c.1612+1G>C)	.	.	0.999989072007339	0.934
18	63527062	G	T	18	65859826	y	y	splicing	CDH7(NM_033646:exon10:c.1612+1G>T;NM_004361:exon10:c.1612+1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1612+1G>T;ENST00000536984:exon10:c.1612+1G>T;ENST00000397968:exon10:c.1612+1G>T)	.	.	0.999989072007339	0.934
18	63527063	T	A	18	65859827	y	y	splicing	CDH7(NM_033646:exon10:c.1612+2T>A;NM_004361:exon10:c.1612+2T>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1612+2T>A;ENST00000536984:exon10:c.1612+2T>A;ENST00000397968:exon10:c.1612+2T>A)	.	.	0.999988247793601	0.928
18	63527063	T	C	18	65859827	y	y	splicing	CDH7(NM_033646:exon10:c.1612+2T>C;NM_004361:exon10:c.1612+2T>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1612+2T>C;ENST00000536984:exon10:c.1612+2T>C;ENST00000397968:exon10:c.1612+2T>C)	.	.	0.994669226766359	0.67
18	63527063	T	G	18	65859827	y	y	splicing	CDH7(NM_033646:exon10:c.1612+2T>G;NM_004361:exon10:c.1612+2T>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon10:c.1612+2T>G;ENST00000536984:exon10:c.1612+2T>G;ENST00000397968:exon10:c.1612+2T>G)	.	.	0.999988247793601	0.928
18	63527064	A	C	18	65859828	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.995909255080014	0.726
18	63527064	A	G	18	65859828	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.322798503519294	0.492
18	63527064	A	T	18	65859828	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.994636693053116	0.688
18	63527065	A	C	18	65859829	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0705239570502387	0.308
18	63527065	A	G	18	65859829	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.838867017474024	0.548
18	63527065	A	T	18	65859829	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.270165409019997	0.37
18	63527066	T	A	18	65859830	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.01297246275754E-5	0.014
18	63527066	T	C	18	65859830	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.71628529894593E-5	0.006
18	63527066	T	G	18	65859830	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.52250541396503E-5	0.02
18	63527067	G	A	18	65859831	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.78630734361536E-5	0.004
18	63527067	G	C	18	65859831	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.23176755308918E-4	0.14
18	63527067	G	T	18	65859831	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.16830175794491E-5	0.002
18	63527068	T	A	18	65859832	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.38245402744889E-5	0.024
18	63527068	T	C	18	65859832	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.5775689147513E-5	0.01
18	63527068	T	G	18	65859832	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.5775689147513E-5	0.01
18	63527069	A	C	18	65859833	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.70085160802486E-5	0.01
18	63527069	A	G	18	65859833	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.34449948306336E-5	0.02
18	63527069	A	T	18	65859833	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.9295915331227E-5	0.014
18	63529890	T	A	18	65862654	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.239452150219955	0.43
18	63529890	T	C	18	65862654	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0101941802539342	0.162
18	63529890	T	G	18	65862654	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0524851983612587	0.336
18	63529891	C	A	18	65862655	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.99997599028223	0.98
18	63529891	C	G	18	65862655	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00336711174592151	0.136
18	63529891	C	T	18	65862655	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.04485398899708E-4	0.008
18	63529892	G	A	18	65862656	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.3268411838319E-4	0.03
18	63529892	G	C	18	65862656	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.82461563760166E-5	0.018
18	63529892	G	T	18	65862656	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.24527841022307E-5	0.008
18	63529893	T	A	18	65862657	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00218387418159799	0.066
18	63529893	T	C	18	65862657	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.45916600022652E-5	0.002
18	63529893	T	G	18	65862657	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00181005176240434	0.064
18	63529894	T	A	18	65862658	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0463705416480862	0.208
18	63529894	T	C	18	65862658	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.14846478241531E-4	0.002
18	63529894	T	G	18	65862658	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00314412288233265	0.114
18	63529895	A	C	18	65862659	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.21632875341123E-5	0.016
18	63529895	A	G	18	65862659	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.5083270219904E-5	0.012
18	63529895	A	T	18	65862659	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.77255813707413E-5	0.016
18	63529896	T	A	18	65862660	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0215672258651453	0.29
18	63529896	T	C	18	65862660	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.11812531249321E-4	0.084
18	63529896	T	G	18	65862660	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999970671807772	0.958
18	63529897	C	A	18	65862661	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00103795741105776	0.174
18	63529897	C	G	18	65862661	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.68487932751451E-4	0.078
18	63529897	C	T	18	65862661	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.20013515164198E-5	0.004
18	63529898	C	A	18	65862662	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00219918554556258	0.044
18	63529898	C	G	18	65862662	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00255966734522826	0.032
18	63529898	C	T	18	65862662	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00120714934185985	0.052
18	63529899	T	A	18	65862663	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.951731530742472	0.51
18	63529899	T	C	18	65862663	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	1.16105125897515E-4	0.024
18	63529899	T	G	18	65862663	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999490032437121	0.884
18	63529900	A	C	18	65862664	y	y	splicing	CDH7(NM_033646:exon11:c.1613-2A>C;NM_004361:exon11:c.1613-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon11:c.1613-2A>C;ENST00000536984:exon11:c.1613-2A>C;ENST00000397968:exon11:c.1613-2A>C)	.	.	0.999988247793601	0.926
18	63529900	A	G	18	65862664	y	y	splicing	CDH7(NM_033646:exon11:c.1613-2A>G;NM_004361:exon11:c.1613-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon11:c.1613-2A>G;ENST00000536984:exon11:c.1613-2A>G;ENST00000397968:exon11:c.1613-2A>G)	.	.	0.999988247793601	0.926
18	63529900	A	T	18	65862664	y	y	splicing	CDH7(NM_033646:exon11:c.1613-2A>T;NM_004361:exon11:c.1613-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon11:c.1613-2A>T;ENST00000536984:exon11:c.1613-2A>T;ENST00000397968:exon11:c.1613-2A>T)	.	.	0.999988247793601	0.926
18	63529901	G	A	18	65862665	y	y	splicing	CDH7(NM_033646:exon11:c.1613-1G>A;NM_004361:exon11:c.1613-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon11:c.1613-1G>A;ENST00000536984:exon11:c.1613-1G>A;ENST00000397968:exon11:c.1613-1G>A)	.	.	0.999986675681007	0.932
18	63529901	G	C	18	65862665	y	y	splicing	CDH7(NM_033646:exon11:c.1613-1G>C;NM_004361:exon11:c.1613-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon11:c.1613-1G>C;ENST00000536984:exon11:c.1613-1G>C;ENST00000397968:exon11:c.1613-1G>C)	.	.	0.999986675681007	0.932
18	63529901	G	T	18	65862665	y	y	splicing	CDH7(NM_033646:exon11:c.1613-1G>T;NM_004361:exon11:c.1613-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon11:c.1613-1G>T;ENST00000536984:exon11:c.1613-1G>T;ENST00000397968:exon11:c.1613-1G>T)	.	.	0.999986675681007	0.932
18	63529902	A	C	18	65862666	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.A1613C:p.D538A;CDH7:NM_004361:exon11:c.A1613C:p.D538A;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1613C:p.D538A;ENSG00000081138:ENST00000397968:exon11:c.A1613C:p.D538A;ENSG00000081138:ENST00000323011:exon11:c.A1613C:p.D538A;	0.861573410692347	0.59
18	63529902	A	G	18	65862666	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.A1613G:p.D538G;CDH7:NM_004361:exon11:c.A1613G:p.D538G;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1613G:p.D538G;ENSG00000081138:ENST00000397968:exon11:c.A1613G:p.D538G;ENSG00000081138:ENST00000323011:exon11:c.A1613G:p.D538G;	0.582519942548334	0.462
18	63529902	A	T	18	65862666	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.A1613T:p.D538V;CDH7:NM_004361:exon11:c.A1613T:p.D538V;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1613T:p.D538V;ENSG00000081138:ENST00000397968:exon11:c.A1613T:p.D538V;ENSG00000081138:ENST00000323011:exon11:c.A1613T:p.D538V;	0.722498862635782	0.472
18	63529903	C	A	18	65862667	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.C1614A:p.D538E;CDH7:NM_004361:exon11:c.C1614A:p.D538E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.C1614A:p.D538E;ENSG00000081138:ENST00000397968:exon11:c.C1614A:p.D538E;ENSG00000081138:ENST00000323011:exon11:c.C1614A:p.D538E;	0.985674138993262	0.766
18	63529903	C	G	18	65862667	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.C1614G:p.D538E;CDH7:NM_004361:exon11:c.C1614G:p.D538E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.C1614G:p.D538E;ENSG00000081138:ENST00000397968:exon11:c.C1614G:p.D538E;ENSG00000081138:ENST00000323011:exon11:c.C1614G:p.D538E;	0.964730204612343	0.666
18	63529903	C	T	18	65862667	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon11:c.C1614T:p.D538D;CDH7:NM_004361:exon11:c.C1614T:p.D538D;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.C1614T:p.D538D;ENSG00000081138:ENST00000397968:exon11:c.C1614T:p.D538D;ENSG00000081138:ENST00000323011:exon11:c.C1614T:p.D538D;	0.00713021262048839	0.03
18	63530151	T	A	18	65862915	y	n	exonic	CDH7	stopgain SNV	CDH7:NM_033646:exon11:c.T1862A:p.L621X;CDH7:NM_004361:exon11:c.T1862A:p.L621X;	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon11:c.T1862A:p.L621X;ENSG00000081138:ENST00000397968:exon11:c.T1862A:p.L621X;ENSG00000081138:ENST00000323011:exon11:c.T1862A:p.L621X;	0.548160343172923	0.712
18	63530151	T	C	18	65862915	y	n	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.T1862C:p.L621S;CDH7:NM_004361:exon11:c.T1862C:p.L621S;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.T1862C:p.L621S;ENSG00000081138:ENST00000397968:exon11:c.T1862C:p.L621S;ENSG00000081138:ENST00000323011:exon11:c.T1862C:p.L621S;	0.363924872875758	0.594
18	63530151	T	G	18	65862915	y	n	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.T1862G:p.L621W;CDH7:NM_004361:exon11:c.T1862G:p.L621W;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.T1862G:p.L621W;ENSG00000081138:ENST00000397968:exon11:c.T1862G:p.L621W;ENSG00000081138:ENST00000323011:exon11:c.T1862G:p.L621W;	0.504304306271214	0.632
18	63530152	G	A	18	65862916	y	n	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon11:c.G1863A:p.L621L;CDH7:NM_004361:exon11:c.G1863A:p.L621L;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1863A:p.L621L;ENSG00000081138:ENST00000397968:exon11:c.G1863A:p.L621L;ENSG00000081138:ENST00000323011:exon11:c.G1863A:p.L621L;	3.65596408735331E-4	0.108
18	63530152	G	C	18	65862916	y	n	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.G1863C:p.L621F;CDH7:NM_004361:exon11:c.G1863C:p.L621F;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1863C:p.L621F;ENSG00000081138:ENST00000397968:exon11:c.G1863C:p.L621F;ENSG00000081138:ENST00000323011:exon11:c.G1863C:p.L621F;	5.72712335163283E-4	0.016
18	63530152	G	T	18	65862916	y	n	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.G1863T:p.L621F;CDH7:NM_004361:exon11:c.G1863T:p.L621F;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1863T:p.L621F;ENSG00000081138:ENST00000397968:exon11:c.G1863T:p.L621F;ENSG00000081138:ENST00000323011:exon11:c.G1863T:p.L621F;	1.21381100287997E-4	0.006
18	63530153	G	A	18	65862917	y	n	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.G1864A:p.V622M;CDH7:NM_004361:exon11:c.G1864A:p.V622M;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1864A:p.G622S;ENSG00000081138:ENST00000397968:exon11:c.G1864A:p.V622M;ENSG00000081138:ENST00000323011:exon11:c.G1864A:p.V622M;	0.999981805637539	1.0
18	63530153	G	C	18	65862917	y	n	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.G1864C:p.V622L;CDH7:NM_004361:exon11:c.G1864C:p.V622L;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1864C:p.G622R;ENSG00000081138:ENST00000397968:exon11:c.G1864C:p.V622L;ENSG00000081138:ENST00000323011:exon11:c.G1864C:p.V622L;	0.999984758546966	0.988
18	63530153	G	T	18	65862917	y	n	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon11:c.G1864T:p.V622L;CDH7:NM_004361:exon11:c.G1864T:p.V622L;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1864T:p.G622C;ENSG00000081138:ENST00000397968:exon11:c.G1864T:p.V622L;ENSG00000081138:ENST00000323011:exon11:c.G1864T:p.V622L;	0.999946213395054	0.984
18	63530154	G	A	18	65862918	y	n	splicing	CDH7(NM_033646:exon11:c.1864+1G>A;NM_004361:exon11:c.1864+1G>A)	.	.	exonic;splicing	ENSG00000081138;ENSG00000081138(ENST00000323011:exon11:c.1864+1G>A;ENST00000397968:exon11:c.1864+1G>A)	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1865A:p.G622D;	0.999938422912956	0.936
18	63530154	G	C	18	65862918	y	n	splicing	CDH7(NM_033646:exon11:c.1864+1G>C;NM_004361:exon11:c.1864+1G>C)	.	.	exonic;splicing	ENSG00000081138;ENSG00000081138(ENST00000323011:exon11:c.1864+1G>C;ENST00000397968:exon11:c.1864+1G>C)	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1865C:p.G622A;	0.999938422912956	0.936
18	63530154	G	T	18	65862918	y	n	splicing	CDH7(NM_033646:exon11:c.1864+1G>T;NM_004361:exon11:c.1864+1G>T)	.	.	exonic;splicing	ENSG00000081138;ENSG00000081138(ENST00000323011:exon11:c.1864+1G>T;ENST00000397968:exon11:c.1864+1G>T)	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1865T:p.G622V;	0.999938422912956	0.936
18	63530155	T	A	18	65862919	y	n	splicing	CDH7(NM_033646:exon11:c.1864+2T>A;NM_004361:exon11:c.1864+2T>A)	.	.	exonic;splicing	ENSG00000081138;ENSG00000081138(ENST00000323011:exon11:c.1864+2T>A;ENST00000397968:exon11:c.1864+2T>A)	synonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.T1866A:p.G622G;	0.999966203349492	0.93
18	63530155	T	C	18	65862919	y	n	splicing	CDH7(NM_033646:exon11:c.1864+2T>C;NM_004361:exon11:c.1864+2T>C)	.	.	exonic;splicing	ENSG00000081138;ENSG00000081138(ENST00000323011:exon11:c.1864+2T>C;ENST00000397968:exon11:c.1864+2T>C)	synonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.T1866C:p.G622G;	0.97068866427188	0.648
18	63530155	T	G	18	65862919	y	n	splicing	CDH7(NM_033646:exon11:c.1864+2T>G;NM_004361:exon11:c.1864+2T>G)	.	.	exonic;splicing	ENSG00000081138;ENSG00000081138(ENST00000323011:exon11:c.1864+2T>G;ENST00000397968:exon11:c.1864+2T>G)	synonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.T1866G:p.G622G;	0.999966203349492	0.94
18	63530156	A	C	18	65862920	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1867C:p.R623R;	0.999702097339216	0.908
18	63530156	A	G	18	65862920	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1867G:p.R623G;	0.910256729046265	0.644
18	63530156	A	T	18	65862920	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1867T:p.R623W;	0.99985609994423	0.918
18	63530157	G	A	18	65862921	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1868A:p.R623K;	9.68678305714142E-5	0.182
18	63530157	G	C	18	65862921	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1868C:p.R623T;	2.24156284408182E-4	0.008
18	63530157	G	T	18	65862921	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1868T:p.R623M;	1.33181502481818E-4	0.02
18	63530158	G	A	18	65862922	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1869A:p.R623R;	0.99997289121893	0.98
18	63530158	G	C	18	65862922	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1869C:p.R623S;	0.999968543938335	0.99
18	63530158	G	T	18	65862922	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.G1869T:p.R623S;	0.999968543938335	0.986
18	63530159	T	A	18	65862923	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.T1870A:p.Y624N;	0.864369508179258	0.46
18	63530159	T	C	18	65862923	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.T1870C:p.Y624H;	0.613592012487055	0.516
18	63530159	T	G	18	65862923	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.T1870G:p.Y624D;	0.730348105490601	0.54
18	63530160	A	C	18	65862924	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1871C:p.Y624S;	1.10922973263216E-4	0.0
18	63530160	A	G	18	65862924	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1871G:p.Y624C;	1.68070670533058E-4	0.0
18	63530160	A	T	18	65862924	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.A1871T:p.Y624F;	3.2931350792795E-4	0.048
18	63530161	C	A	18	65862925	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon11:c.C1872A:p.Y624X;	1.85540227054504E-4	0.284
18	63530161	C	G	18	65862925	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	stopgain SNV	ENSG00000081138:ENST00000536984:exon11:c.C1872G:p.Y624X;	1.6354669235344E-4	0.276
18	63530161	C	T	18	65862925	y	n	intronic	CDH7	.	.	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000536984:exon11:c.C1872T:p.Y624Y;	1.14691560037148E-4	0.002
18	63547625	T	A	18	65880389	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0903941985200092	0.506
18	63547625	T	C	18	65880389	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.15464036491804E-5	0.066
18	63547625	T	G	18	65880389	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0770183931838585	0.494
18	63547626	T	A	18	65880390	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.114012735588136	0.268
18	63547626	T	C	18	65880390	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	7.63490604258191E-5	0.042
18	63547626	T	G	18	65880390	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0439777559258123	0.342
18	63547627	A	C	18	65880391	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.62749935798861E-5	0.056
18	63547627	A	G	18	65880391	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.42812854361898E-5	0.056
18	63547627	A	T	18	65880391	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.95854461859483E-5	0.032
18	63547628	T	A	18	65880392	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00673992408784558	0.378
18	63547628	T	C	18	65880392	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.67221412618762E-4	0.096
18	63547628	T	G	18	65880392	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.998480709233718	0.774
18	63547629	T	A	18	65880393	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999254732412574	0.67
18	63547629	T	C	18	65880393	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.64638083217634E-5	0.06
18	63547629	T	G	18	65880393	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	2.99037665640418E-4	0.222
18	63547630	G	A	18	65880394	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	6.73173811933097E-5	0.068
18	63547630	G	C	18	65880394	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	4.06838681575816E-5	0.064
18	63547630	G	T	18	65880394	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.53709859914005E-5	0.032
18	63547631	T	A	18	65880395	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0259767690535804	0.316
18	63547631	T	C	18	65880395	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.27652964750822E-4	0.072
18	63547631	T	G	18	65880395	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.0605073872777662	0.338
18	63547632	T	A	18	65880396	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.131447852428831	0.278
18	63547632	T	C	18	65880396	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00158709956999407	0.18
18	63547632	T	G	18	65880396	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.248496522763824	0.302
18	63547633	T	A	18	65880397	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.24088132353206E-4	0.134
18	63547633	T	C	18	65880397	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	3.13139841604662E-4	0.106
18	63547633	T	G	18	65880397	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	5.98783744816036E-4	0.05
18	63547634	C	A	18	65880398	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.660529210119326	0.624
18	63547634	C	G	18	65880398	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.999510099021528	0.908
18	63547634	C	T	18	65880398	y	y	intronic	CDH7	.	.	intronic	ENSG00000081138	.	.	0.00116688643418942	0.112
18	63547635	A	C	18	65880399	y	y	splicing	CDH7(NM_033646:exon12:c.1865-2A>C;NM_004361:exon12:c.1865-2A>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon12:c.1865-2A>C;ENST00000397968:exon12:c.1865-2A>C)	.	.	0.999971317418422	0.886
18	63547635	A	G	18	65880399	y	y	splicing	CDH7(NM_033646:exon12:c.1865-2A>G;NM_004361:exon12:c.1865-2A>G)	.	.	splicing	ENSG00000081138(ENST00000323011:exon12:c.1865-2A>G;ENST00000397968:exon12:c.1865-2A>G)	.	.	0.999971317418422	0.886
18	63547635	A	T	18	65880399	y	y	splicing	CDH7(NM_033646:exon12:c.1865-2A>T;NM_004361:exon12:c.1865-2A>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon12:c.1865-2A>T;ENST00000397968:exon12:c.1865-2A>T)	.	.	0.999971317418422	0.892
18	63547636	G	A	18	65880400	y	y	splicing	CDH7(NM_033646:exon12:c.1865-1G>A;NM_004361:exon12:c.1865-1G>A)	.	.	splicing	ENSG00000081138(ENST00000323011:exon12:c.1865-1G>A;ENST00000397968:exon12:c.1865-1G>A)	.	.	0.999956786857988	0.934
18	63547636	G	C	18	65880400	y	y	splicing	CDH7(NM_033646:exon12:c.1865-1G>C;NM_004361:exon12:c.1865-1G>C)	.	.	splicing	ENSG00000081138(ENST00000323011:exon12:c.1865-1G>C;ENST00000397968:exon12:c.1865-1G>C)	.	.	0.99996469115006	0.906
18	63547636	G	T	18	65880400	y	y	splicing	CDH7(NM_033646:exon12:c.1865-1G>T;NM_004361:exon12:c.1865-1G>T)	.	.	splicing	ENSG00000081138(ENST00000323011:exon12:c.1865-1G>T;ENST00000397968:exon12:c.1865-1G>T)	.	.	0.999955279531929	0.916
18	63547637	T	A	18	65880401	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon12:c.T1865A:p.V622E;CDH7:NM_004361:exon12:c.T1865A:p.V622E;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000397968:exon12:c.T1865A:p.V622E;ENSG00000081138:ENST00000323011:exon12:c.T1865A:p.V622E;	0.00132213118435528	0.014
18	63547637	T	C	18	65880401	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon12:c.T1865C:p.V622A;CDH7:NM_004361:exon12:c.T1865C:p.V622A;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000397968:exon12:c.T1865C:p.V622A;ENSG00000081138:ENST00000323011:exon12:c.T1865C:p.V622A;	0.00132029019266952	0.02
18	63547637	T	G	18	65880401	y	y	exonic	CDH7	nonsynonymous SNV	CDH7:NM_033646:exon12:c.T1865G:p.V622G;CDH7:NM_004361:exon12:c.T1865G:p.V622G;	exonic	ENSG00000081138	nonsynonymous SNV	ENSG00000081138:ENST00000397968:exon12:c.T1865G:p.V622G;ENSG00000081138:ENST00000323011:exon12:c.T1865G:p.V622G;	8.66576076691908E-4	0.1
18	63547638	G	A	18	65880402	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon12:c.G1866A:p.V622V;CDH7:NM_004361:exon12:c.G1866A:p.V622V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000397968:exon12:c.G1866A:p.V622V;ENSG00000081138:ENST00000323011:exon12:c.G1866A:p.V622V;	1.3871077529926E-5	0.042
18	63547638	G	C	18	65880402	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon12:c.G1866C:p.V622V;CDH7:NM_004361:exon12:c.G1866C:p.V622V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000397968:exon12:c.G1866C:p.V622V;ENSG00000081138:ENST00000323011:exon12:c.G1866C:p.V622V;	8.98006915400306E-6	0.038
18	63547638	G	T	18	65880402	y	y	exonic	CDH7	synonymous SNV	CDH7:NM_033646:exon12:c.G1866T:p.V622V;CDH7:NM_004361:exon12:c.G1866T:p.V622V;	exonic	ENSG00000081138	synonymous SNV	ENSG00000081138:ENST00000397968:exon12:c.G1866T:p.V622V;ENSG00000081138:ENST00000323011:exon12:c.G1866T:p.V622V;	5.25201897596404E-6	0.028
18	64172538	C	A	18	66505301	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_001271028:exon10:c.G1460T:p.G487V;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000540086:exon10:c.G1460T:p.G487V;	1.40741480651015E-4	0.01
18	64172538	C	G	18	66505301	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_001271028:exon10:c.G1460C:p.G487A;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000540086:exon10:c.G1460C:p.G487A;	2.10812112630821E-5	0.012
18	64172538	C	T	18	66505301	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_001271028:exon10:c.G1460A:p.G487D;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000540086:exon10:c.G1460A:p.G487D;	9.69041559118034E-5	0.012
18	64172539	C	A	18	66505302	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon12:c.G1829T:p.G610V;CDH19:NM_001271028:exon10:c.G1459T:p.G487C;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon12:c.G1829T:p.G610V;ENSG00000071991:ENST00000540086:exon10:c.G1459T:p.G487C;	0.999766886282269	0.98
18	64172539	C	G	18	66505302	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon12:c.G1829C:p.G610A;CDH19:NM_001271028:exon10:c.G1459C:p.G487R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon12:c.G1829C:p.G610A;ENSG00000071991:ENST00000540086:exon10:c.G1459C:p.G487R;	0.958827919360753	0.836
18	64172539	C	T	18	66505302	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon12:c.G1829A:p.G610E;CDH19:NM_001271028:exon10:c.G1459A:p.G487S;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon12:c.G1829A:p.G610E;ENSG00000071991:ENST00000540086:exon10:c.G1459A:p.G487S;	0.717890108987694	0.596
18	64172540	C	A	18	66505303	y	y	splicing	CDH19(NM_021153:exon13:c.1829-1G>T;NM_001271028:exon11:c.1459-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon13:c.1829-1G>T;ENST00000579658:exon13:c.1801-1G>T;ENST00000540086:exon11:c.1459-1G>T)	.	.	0.999985532734767	0.94
18	64172540	C	G	18	66505303	y	y	splicing	CDH19(NM_021153:exon13:c.1829-1G>C;NM_001271028:exon11:c.1459-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon13:c.1829-1G>C;ENST00000579658:exon13:c.1801-1G>C;ENST00000540086:exon11:c.1459-1G>C)	.	.	0.999985532734767	0.948
18	64172540	C	T	18	66505303	y	y	splicing	CDH19(NM_021153:exon13:c.1829-1G>A;NM_001271028:exon11:c.1459-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon13:c.1829-1G>A;ENST00000579658:exon13:c.1801-1G>A;ENST00000540086:exon11:c.1459-1G>A)	.	.	0.999985532734767	0.948
18	64172541	T	A	18	66505304	y	y	splicing	CDH19(NM_021153:exon13:c.1829-2A>T;NM_001271028:exon11:c.1459-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon13:c.1829-2A>T;ENST00000579658:exon13:c.1801-2A>T;ENST00000540086:exon11:c.1459-2A>T)	.	.	0.999989917668626	0.946
18	64172541	T	C	18	66505304	y	y	splicing	CDH19(NM_021153:exon13:c.1829-2A>G;NM_001271028:exon11:c.1459-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon13:c.1829-2A>G;ENST00000579658:exon13:c.1801-2A>G;ENST00000540086:exon11:c.1459-2A>G)	.	.	0.999989917668626	0.946
18	64172541	T	G	18	66505304	y	y	splicing	CDH19(NM_021153:exon13:c.1829-2A>C;NM_001271028:exon11:c.1459-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon13:c.1829-2A>C;ENST00000579658:exon13:c.1801-2A>C;ENST00000540086:exon11:c.1459-2A>C)	.	.	0.999989917668626	0.946
18	64172542	G	A	18	66505305	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00993357640175665	0.142
18	64172542	G	C	18	66505305	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99932426815279	0.894
18	64172542	G	T	18	66505305	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.902489612378184	0.658
18	64172543	A	C	18	66505306	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.211499119018438	0.568
18	64172543	A	G	18	66505306	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.12482262357264E-5	0.044
18	64172543	A	T	18	66505306	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.12873886730342E-5	0.002
18	64172544	T	A	18	66505307	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.67944982512943E-5	0.0
18	64172544	T	C	18	66505307	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.20227104784784E-5	0.174
18	64172544	T	G	18	66505307	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.79973310716145E-6	0.0
18	64172545	G	A	18	66505308	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.60433886793066E-5	0.0
18	64172545	G	C	18	66505308	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.30438537150414E-4	0.062
18	64172545	G	T	18	66505308	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.30438537150414E-4	0.064
18	64172546	A	C	18	66505309	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00382159808922605	0.06
18	64172546	A	G	18	66505309	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.5683568358475E-5	0.038
18	64172546	A	T	18	66505309	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00454847202994573	0.084
18	64172547	A	C	18	66505310	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00186056800765951	0.028
18	64172547	A	G	18	66505310	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.88521936825801E-6	0.002
18	64172547	A	T	18	66505310	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00266163726352143	0.086
18	64172548	G	A	18	66505311	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.84275610127688E-5	0.0
18	64172548	G	C	18	66505311	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00102890666971847	0.038
18	64172548	G	T	18	66505311	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.94631075627693E-4	0.03
18	64172549	A	C	18	66505312	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.248416148212845	0.516
18	64172549	A	G	18	66505312	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00475814433517029	0.094
18	64172549	A	T	18	66505312	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.586589599098661	0.496
18	64172550	A	C	18	66505313	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0092608328213367	0.344
18	64172550	A	G	18	66505313	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00356285306112014	0.178
18	64172550	A	T	18	66505313	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0248926665372676	0.35
18	64172551	A	C	18	66505314	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0555937224415982	0.374
18	64172551	A	G	18	66505314	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00141623207347983	0.024
18	64172551	A	T	18	66505314	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0705200372055116	0.41
18	64176224	C	A	18	66508987	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00179979102945101	0.006
18	64176224	C	G	18	66508987	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00111532333135379	0.006
18	64176224	C	T	18	66508987	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00122330320294684	0.006
18	64176225	T	A	18	66508988	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.77786660943005E-4	0.01
18	64176225	T	C	18	66508988	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00112841326756366	0.018
18	64176225	T	G	18	66508988	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.6377315623106E-4	0.0
18	64176226	A	C	18	66508989	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.247203787798111	0.512
18	64176226	A	G	18	66508989	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0161545837945644	0.2
18	64176226	A	T	18	66508989	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.258310970001607	0.302
18	64176227	C	A	18	66508990	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999981342323717	0.998
18	64176227	C	G	18	66508990	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999991038447064	0.978
18	64176227	C	T	18	66508990	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999981770177769	0.994
18	64176228	C	A	18	66508991	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.3157773709799E-5	0.0
18	64176228	C	G	18	66508991	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.69908620341292E-5	0.018
18	64176228	C	T	18	66508991	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.85469722766537E-5	0.02
18	64176229	T	A	18	66508992	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998620588535095	0.906
18	64176229	T	C	18	66508992	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.925212371278451	0.682
18	64176229	T	G	18	66508992	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999691253390683	0.916
18	64176230	A	C	18	66508993	y	y	splicing	CDH19(NM_021153:exon12:c.1828+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1828+2T>G;ENST00000579658:exon12:c.1800+2T>G)	.	.	0.999939020951004	0.932
18	64176230	A	G	18	66508993	y	y	splicing	CDH19(NM_021153:exon12:c.1828+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1828+2T>C;ENST00000579658:exon12:c.1800+2T>C)	.	.	0.958896979623775	0.592
18	64176230	A	T	18	66508993	y	y	splicing	CDH19(NM_021153:exon12:c.1828+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1828+2T>A;ENST00000579658:exon12:c.1800+2T>A)	.	.	0.999939020951004	0.932
18	64176231	C	A	18	66508994	y	y	splicing	CDH19(NM_021153:exon12:c.1828+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1828+1G>T;ENST00000579658:exon12:c.1800+1G>T)	.	.	0.999977503438354	0.948
18	64176231	C	G	18	66508994	y	y	splicing	CDH19(NM_021153:exon12:c.1828+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1828+1G>C;ENST00000579658:exon12:c.1800+1G>C)	.	.	0.999977503438354	0.948
18	64176231	C	T	18	66508994	y	y	splicing	CDH19(NM_021153:exon12:c.1828+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1828+1G>A;ENST00000579658:exon12:c.1800+1G>A)	.	.	0.999977503438354	0.944
18	64176232	C	A	18	66508995	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.G1828T:p.G610W;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.G1828T:p.G610W;	0.999989388197322	0.97
18	64176232	C	G	18	66508995	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.G1828C:p.G610R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.G1828C:p.G610R;	0.999968780351877	0.994
18	64176232	C	T	18	66508995	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.G1828A:p.G610R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.G1828A:p.G610R;	0.999994378779057	0.998
18	64176233	A	C	18	66508996	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.T1827G:p.F609L;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1827G:p.F609L;	6.49605572446498E-4	0.106
18	64176233	A	G	18	66508996	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon11:c.T1827C:p.F609F;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1827C:p.F609F;	0.00422718194928286	0.058
18	64176233	A	T	18	66508996	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.T1827A:p.F609L;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1827A:p.F609L;	2.26922548720765E-4	0.198
18	64176234	A	C	18	66508997	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.T1826G:p.F609C;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1826G:p.F609C;	0.00437144059289918	0.124
18	64176234	A	G	18	66508997	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.T1826C:p.F609S;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1826C:p.F609S;	2.04974228559667E-4	0.064
18	64176234	A	T	18	66508997	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.T1826A:p.F609Y;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1826A:p.F609Y;	5.38761738972805E-4	0.07
18	64176482	A	C	18	66509245	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.T1578G:p.D526E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1578G:p.D526E;	6.37008547155334E-4	0.198
18	64176482	A	G	18	66509245	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon11:c.T1578C:p.D526D;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1578C:p.D526D;	0.00823105702291233	0.238
18	64176482	A	T	18	66509245	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.T1578A:p.D526E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.T1578A:p.D526E;	6.00819241207411E-4	0.182
18	64176483	T	A	18	66509246	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.A1577T:p.D526V;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.A1577T:p.D526V;	0.669614949933649	0.498
18	64176483	T	C	18	66509246	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.A1577G:p.D526G;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.A1577G:p.D526G;	0.482988201009585	0.526
18	64176483	T	G	18	66509246	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon11:c.A1577C:p.D526A;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000262150:exon11:c.A1577C:p.D526A;	0.649845631033363	0.574
18	64176484	C	A	18	66509247	y	y	splicing	CDH19(NM_021153:exon12:c.1577-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1577-1G>T)	.	.	0.999986675681007	0.944
18	64176484	C	G	18	66509247	y	y	splicing	CDH19(NM_021153:exon12:c.1577-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1577-1G>C)	.	.	0.999986675681007	0.944
18	64176484	C	T	18	66509247	y	y	splicing	CDH19(NM_021153:exon12:c.1577-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1577-1G>A)	.	.	0.999986675681007	0.944
18	64176485	T	A	18	66509248	y	y	splicing	CDH19(NM_021153:exon12:c.1577-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1577-2A>T)	.	.	0.999989917668626	0.944
18	64176485	T	C	18	66509248	y	y	splicing	CDH19(NM_021153:exon12:c.1577-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1577-2A>G)	.	.	0.999989917668626	0.942
18	64176485	T	G	18	66509248	y	y	splicing	CDH19(NM_021153:exon12:c.1577-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon12:c.1577-2A>C)	.	.	0.999989917668626	0.944
18	64176486	A	C	18	66509249	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999372150195864	0.87
18	64176486	A	G	18	66509249	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.13280850249532E-4	0.014
18	64176486	A	T	18	66509249	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.886686978154565	0.554
18	64176487	A	C	18	66509250	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.109861451513687	0.208
18	64176487	A	G	18	66509250	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00888204477101375	0.122
18	64176487	A	T	18	66509250	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.008534655433021	0.112
18	64176488	A	C	18	66509251	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99341751801388	0.714
18	64176488	A	G	18	66509251	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.633303349078056	0.274
18	64176488	A	T	18	66509251	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99636567409367	0.692
18	64176489	A	C	18	66509252	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99352232326406	0.746
18	64176489	A	G	18	66509252	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0106368817575384	0.158
18	64176489	A	T	18	66509252	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.913516617157119	0.752
18	64176490	C	A	18	66509253	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.63468954608008E-5	0.004
18	64176490	C	G	18	66509253	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.52294186762814E-5	0.002
18	64176490	C	T	18	66509253	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.64963639413224E-4	0.006
18	64176491	A	C	18	66509254	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00919794056810358	0.244
18	64176491	A	G	18	66509254	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.53521076695098E-4	0.004
18	64176491	A	T	18	66509254	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999934958474158	0.982
18	64176492	A	C	18	66509255	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0229411576336142	0.272
18	64176492	A	G	18	66509255	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00101081121057655	0.19
18	64176492	A	T	18	66509255	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0867172789726566	0.31
18	64176493	A	C	18	66509256	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.951492509410926	0.7
18	64176493	A	G	18	66509256	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00484365652633441	0.184
18	64176493	A	T	18	66509256	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.961523235693956	0.802
18	64176494	A	C	18	66509257	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.983898855847159	0.856
18	64176494	A	G	18	66509257	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.583459197974143	0.41
18	64176494	A	T	18	66509257	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.997857275659742	0.934
18	64176495	A	C	18	66509258	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99959551581447	0.984
18	64176495	A	G	18	66509258	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00564931588644397	0.1
18	64176495	A	T	18	66509258	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.491099560131968	0.546
18	64178797	G	A	18	66511560	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.23389499156414E-4	0.0
18	64178797	G	C	18	66511560	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.76053998909407E-4	0.0
18	64178797	G	T	18	66511560	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.45877596969867E-4	0.0
18	64178798	A	C	18	66511561	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.1068914101905E-5	0.002
18	64178798	A	G	18	66511561	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.87529210480119E-5	0.004
18	64178798	A	T	18	66511561	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.87529210480119E-5	0.018
18	64178799	C	A	18	66511562	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.05601151511013E-5	0.0
18	64178799	C	G	18	66511562	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.25503254846361E-4	0.064
18	64178799	C	T	18	66511562	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.22009215267346E-5	0.004
18	64178800	A	C	18	66511563	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.45946964762049E-5	0.01
18	64178800	A	G	18	66511563	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.34999318636917E-6	0.004
18	64178800	A	T	18	66511563	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.16636004394322E-5	0.012
18	64178801	T	A	18	66511564	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.400521876269953	0.436
18	64178801	T	C	18	66511564	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.532654597297345	0.526
18	64178801	T	G	18	66511564	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00880763472969638	0.326
18	64178802	T	A	18	66511565	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999768278138108	0.934
18	64178802	T	C	18	66511565	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.98539188226604	0.604
18	64178802	T	G	18	66511565	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999888803236512	0.926
18	64178803	A	C	18	66511566	y	y	splicing	CDH19(NM_021153:exon11:c.1576+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1576+2T>G;ENST00000579658:exon11:c.1576+2T>G)	.	.	0.99994568797423	0.934
18	64178803	A	G	18	66511566	y	y	splicing	CDH19(NM_021153:exon11:c.1576+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1576+2T>C;ENST00000579658:exon11:c.1576+2T>C)	.	.	0.987955382770663	0.716
18	64178803	A	T	18	66511566	y	y	splicing	CDH19(NM_021153:exon11:c.1576+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1576+2T>A;ENST00000579658:exon11:c.1576+2T>A)	.	.	0.99994568797423	0.93
18	64178804	C	A	18	66511567	y	y	splicing	CDH19(NM_021153:exon11:c.1576+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1576+1G>T;ENST00000579658:exon11:c.1576+1G>T)	.	.	0.999980428708689	0.936
18	64178804	C	G	18	66511567	y	y	splicing	CDH19(NM_021153:exon11:c.1576+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1576+1G>C;ENST00000579658:exon11:c.1576+1G>C)	.	.	0.999980428708689	0.93
18	64178804	C	T	18	66511567	y	y	splicing	CDH19(NM_021153:exon11:c.1576+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1576+1G>A;ENST00000579658:exon11:c.1576+1G>A)	.	.	0.999980428708689	0.936
18	64178805	C	A	18	66511568	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.G1576T:p.D526Y;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000579658:exon10:c.G1576T:p.E526X;	0.999992084630314	0.978
18	64178805	C	G	18	66511568	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.G1576C:p.D526H;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.G1576C:p.E526Q;ENSG00000071991:ENST00000262150:exon10:c.G1576C:p.D526H;	0.999994281178797	0.986
18	64178805	C	T	18	66511568	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.G1576A:p.D526N;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.G1576A:p.E526K;ENSG00000071991:ENST00000262150:exon10:c.G1576A:p.D526N;	0.999976633291681	0.996
18	64178806	T	A	18	66511569	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.A1575T:p.Q525H;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.A1575T:p.Q525H;ENSG00000071991:ENST00000262150:exon10:c.A1575T:p.Q525H;	0.983030904869498	0.684
18	64178806	T	C	18	66511569	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon10:c.A1575G:p.Q525Q;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.A1575G:p.Q525Q;ENSG00000071991:ENST00000262150:exon10:c.A1575G:p.Q525Q;	0.921063016326138	0.632
18	64178806	T	G	18	66511569	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.A1575C:p.Q525H;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.A1575C:p.Q525H;ENSG00000071991:ENST00000262150:exon10:c.A1575C:p.Q525H;	0.552891984688605	0.486
18	64178807	T	A	18	66511570	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.A1574T:p.Q525L;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.A1574T:p.Q525L;ENSG00000071991:ENST00000262150:exon10:c.A1574T:p.Q525L;	0.0125592491274322	0.22
18	64178807	T	C	18	66511570	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.A1574G:p.Q525R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.A1574G:p.Q525R;ENSG00000071991:ENST00000262150:exon10:c.A1574G:p.Q525R;	5.57667549946699E-4	0.034
18	64178807	T	G	18	66511570	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.A1574C:p.Q525P;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.A1574C:p.Q525P;ENSG00000071991:ENST00000262150:exon10:c.A1574C:p.Q525P;	2.09010201084995E-4	0.0
18	64178921	A	C	18	66511684	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.T1460G:p.V487G;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.T1460G:p.V487G;ENSG00000071991:ENST00000262150:exon10:c.T1460G:p.V487G;	3.97819128197123E-5	0.002
18	64178921	A	G	18	66511684	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.T1460C:p.V487A;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.T1460C:p.V487A;ENSG00000071991:ENST00000262150:exon10:c.T1460C:p.V487A;	4.43827750365339E-5	0.002
18	64178921	A	T	18	66511684	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.T1460A:p.V487E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.T1460A:p.V487E;ENSG00000071991:ENST00000262150:exon10:c.T1460A:p.V487E;	3.49587652021468E-5	0.0
18	64178922	C	A	18	66511685	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.G1459T:p.V487L;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.G1459T:p.V487L;ENSG00000071991:ENST00000262150:exon10:c.G1459T:p.V487L;	0.0319264618716662	0.322
18	64178922	C	G	18	66511685	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.G1459C:p.V487L;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.G1459C:p.V487L;ENSG00000071991:ENST00000262150:exon10:c.G1459C:p.V487L;	0.00258247040496413	0.152
18	64178922	C	T	18	66511685	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon10:c.G1459A:p.V487I;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon10:c.G1459A:p.V487I;ENSG00000071991:ENST00000262150:exon10:c.G1459A:p.V487I;	1.22499942293059E-4	0.04
18	64178923	C	A	18	66511686	y	y	splicing	CDH19(NM_021153:exon11:c.1459-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1459-1G>T;ENST00000579658:exon11:c.1459-1G>T)	.	.	0.999946188727699	0.936
18	64178923	C	G	18	66511686	y	y	splicing	CDH19(NM_021153:exon11:c.1459-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1459-1G>C;ENST00000579658:exon11:c.1459-1G>C)	.	.	0.999946188727699	0.932
18	64178923	C	T	18	66511686	y	y	splicing	CDH19(NM_021153:exon11:c.1459-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1459-1G>A;ENST00000579658:exon11:c.1459-1G>A)	.	.	0.999946188727699	0.938
18	64178924	T	A	18	66511687	y	y	splicing	CDH19(NM_021153:exon11:c.1459-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1459-2A>T;ENST00000579658:exon11:c.1459-2A>T)	.	.	0.999965414246739	0.938
18	64178924	T	C	18	66511687	y	y	splicing	CDH19(NM_021153:exon11:c.1459-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1459-2A>G;ENST00000579658:exon11:c.1459-2A>G)	.	.	0.999981535500952	0.936
18	64178924	T	G	18	66511687	y	y	splicing	CDH19(NM_021153:exon11:c.1459-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon11:c.1459-2A>C;ENST00000579658:exon11:c.1459-2A>C)	.	.	0.999981535500952	0.936
18	64178925	A	C	18	66511688	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.435758903278092	0.492
18	64178925	A	G	18	66511688	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.04980241075538E-5	0.026
18	64178925	A	T	18	66511688	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.3268463818073E-4	0.068
18	64178926	A	C	18	66511689	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.05775792155456E-4	0.014
18	64178926	A	G	18	66511689	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.35510288724386E-5	0.0
18	64178926	A	T	18	66511689	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.68055595196584E-5	0.0
18	64178927	A	C	18	66511690	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00168971434915951	0.148
18	64178927	A	G	18	66511690	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.30336285341012E-4	0.012
18	64178927	A	T	18	66511690	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00104544681327749	0.14
18	64178928	A	C	18	66511691	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.6344746502666E-4	0.1
18	64178928	A	G	18	66511691	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.72430986262549E-5	0.004
18	64178928	A	T	18	66511691	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.41015423968469E-4	0.008
18	64178929	A	C	18	66511692	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.84018445051047E-5	0.028
18	64178929	A	G	18	66511692	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.15425307845632E-5	0.002
18	64178929	A	T	18	66511692	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.12203688817979E-5	0.014
18	64178930	A	C	18	66511693	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.71725082836518E-4	0.038
18	64178930	A	G	18	66511693	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.93796264732679E-4	0.01
18	64178930	A	T	18	66511693	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.07043647796474E-4	0.064
18	64178931	A	C	18	66511694	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.33869039528651E-4	0.108
18	64178931	A	G	18	66511694	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.11000056140396E-4	0.002
18	64178931	A	T	18	66511694	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.07327504037461E-4	0.154
18	64178932	A	C	18	66511695	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.48251338392356E-5	0.106
18	64178932	A	G	18	66511695	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.55216764912434E-5	0.002
18	64178932	A	T	18	66511695	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.61006330450797E-5	0.086
18	64178933	A	C	18	66511696	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.29120360730108E-4	0.12
18	64178933	A	G	18	66511696	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.0453158410677E-4	0.044
18	64178933	A	T	18	66511696	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.3977657221961E-4	0.118
18	64178934	G	A	18	66511697	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.27695044518907E-5	0.0
18	64178934	G	C	18	66511697	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.49724093491659E-5	0.008
18	64178934	G	T	18	66511697	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.97183976181647E-5	0.006
18	64197074	G	A	18	66529837	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.01163773767764E-5	0.02
18	64197074	G	C	18	66529837	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.86431456331734E-5	0.0
18	64197074	G	T	18	66529837	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.86431456331734E-5	0.0
18	64197075	T	A	18	66529838	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.34133512961494E-4	0.002
18	64197075	T	C	18	66529838	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.07497387269218E-4	0.0
18	64197075	T	G	18	66529838	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.05089878083976E-4	0.002
18	64197076	C	A	18	66529839	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.97018975761258E-5	0.0
18	64197076	C	G	18	66529839	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.1322194927026E-5	0.004
18	64197076	C	T	18	66529839	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.54680957393796E-5	0.0
18	64197077	C	A	18	66529840	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.87381007697751	0.568
18	64197077	C	G	18	66529840	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.626733003755155	0.504
18	64197077	C	T	18	66529840	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.751308363004825	0.598
18	64197078	T	A	18	66529841	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0660151902307268	0.334
18	64197078	T	C	18	66529841	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.351500913298463	0.436
18	64197078	T	G	18	66529841	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0382086037221413	0.312
18	64197079	T	A	18	66529842	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.942125197994479	0.748
18	64197079	T	C	18	66529842	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0109342993952056	0.126
18	64197079	T	G	18	66529842	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.984766803258587	0.728
18	64197080	A	C	18	66529843	y	y	splicing	CDH19(NM_021153:exon10:c.1458+2T>G;NM_001271028:exon10:c.1458+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1458+2T>G;ENST00000579658:exon10:c.1458+2T>G;ENST00000540086:exon10:c.1458+2T>G)	.	.	0.999988247793601	0.928
18	64197080	A	G	18	66529843	y	y	splicing	CDH19(NM_021153:exon10:c.1458+2T>C;NM_001271028:exon10:c.1458+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1458+2T>C;ENST00000579658:exon10:c.1458+2T>C;ENST00000540086:exon10:c.1458+2T>C)	.	.	0.99340600729494	0.634
18	64197080	A	T	18	66529843	y	y	splicing	CDH19(NM_021153:exon10:c.1458+2T>A;NM_001271028:exon10:c.1458+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1458+2T>A;ENST00000579658:exon10:c.1458+2T>A;ENST00000540086:exon10:c.1458+2T>A)	.	.	0.999988247793601	0.928
18	64197081	C	A	18	66529844	y	y	splicing	CDH19(NM_021153:exon10:c.1458+1G>T;NM_001271028:exon10:c.1458+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1458+1G>T;ENST00000579658:exon10:c.1458+1G>T;ENST00000540086:exon10:c.1458+1G>T)	.	.	0.999985532734767	0.934
18	64197081	C	G	18	66529844	y	y	splicing	CDH19(NM_021153:exon10:c.1458+1G>C;NM_001271028:exon10:c.1458+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1458+1G>C;ENST00000579658:exon10:c.1458+1G>C;ENST00000540086:exon10:c.1458+1G>C)	.	.	0.999985532734767	0.934
18	64197081	C	T	18	66529844	y	y	splicing	CDH19(NM_021153:exon10:c.1458+1G>A;NM_001271028:exon10:c.1458+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1458+1G>A;ENST00000579658:exon10:c.1458+1G>A;ENST00000540086:exon10:c.1458+1G>A)	.	.	0.999985532734767	0.934
18	64197082	C	A	18	66529845	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.G1458T:p.Q486H;CDH19:NM_001271028:exon9:c.G1458T:p.Q486H;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.G1458T:p.Q486H;ENSG00000071991:ENST00000262150:exon9:c.G1458T:p.Q486H;ENSG00000071991:ENST00000540086:exon9:c.G1458T:p.Q486H;	0.990061744433436	0.898
18	64197082	C	G	18	66529845	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.G1458C:p.Q486H;CDH19:NM_001271028:exon9:c.G1458C:p.Q486H;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.G1458C:p.Q486H;ENSG00000071991:ENST00000262150:exon9:c.G1458C:p.Q486H;ENSG00000071991:ENST00000540086:exon9:c.G1458C:p.Q486H;	0.988933114812644	0.82
18	64197082	C	T	18	66529845	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon9:c.G1458A:p.Q486Q;CDH19:NM_001271028:exon9:c.G1458A:p.Q486Q;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.G1458A:p.Q486Q;ENSG00000071991:ENST00000262150:exon9:c.G1458A:p.Q486Q;ENSG00000071991:ENST00000540086:exon9:c.G1458A:p.Q486Q;	0.9499743301811	0.862
18	64197083	T	A	18	66529846	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.A1457T:p.Q486L;CDH19:NM_001271028:exon9:c.A1457T:p.Q486L;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.A1457T:p.Q486L;ENSG00000071991:ENST00000262150:exon9:c.A1457T:p.Q486L;ENSG00000071991:ENST00000540086:exon9:c.A1457T:p.Q486L;	0.349971361313118	0.484
18	64197083	T	C	18	66529846	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.A1457G:p.Q486R;CDH19:NM_001271028:exon9:c.A1457G:p.Q486R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.A1457G:p.Q486R;ENSG00000071991:ENST00000262150:exon9:c.A1457G:p.Q486R;ENSG00000071991:ENST00000540086:exon9:c.A1457G:p.Q486R;	0.695094012730034	0.516
18	64197083	T	G	18	66529846	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.A1457C:p.Q486P;CDH19:NM_001271028:exon9:c.A1457C:p.Q486P;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.A1457C:p.Q486P;ENSG00000071991:ENST00000262150:exon9:c.A1457C:p.Q486P;ENSG00000071991:ENST00000540086:exon9:c.A1457C:p.Q486P;	0.362418196149676	0.47
18	64197084	G	A	18	66529847	y	y	exonic	CDH19	stopgain SNV	CDH19:NM_021153:exon9:c.C1456T:p.Q486X;CDH19:NM_001271028:exon9:c.C1456T:p.Q486X;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000579658:exon9:c.C1456T:p.Q486X;ENSG00000071991:ENST00000262150:exon9:c.C1456T:p.Q486X;ENSG00000071991:ENST00000540086:exon9:c.C1456T:p.Q486X;	0.0843439289647805	0.424
18	64197084	G	C	18	66529847	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.C1456G:p.Q486E;CDH19:NM_001271028:exon9:c.C1456G:p.Q486E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.C1456G:p.Q486E;ENSG00000071991:ENST00000262150:exon9:c.C1456G:p.Q486E;ENSG00000071991:ENST00000540086:exon9:c.C1456G:p.Q486E;	6.34515321226835E-4	0.032
18	64197084	G	T	18	66529847	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.C1456A:p.Q486K;CDH19:NM_001271028:exon9:c.C1456A:p.Q486K;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.C1456A:p.Q486K;ENSG00000071991:ENST00000262150:exon9:c.C1456A:p.Q486K;ENSG00000071991:ENST00000540086:exon9:c.C1456A:p.Q486K;	0.00105293029507413	0.02
18	64197202	G	A	18	66529965	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon9:c.C1338T:p.Y446Y;CDH19:NM_001271028:exon9:c.C1338T:p.Y446Y;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.C1338T:p.Y446Y;ENSG00000071991:ENST00000262150:exon9:c.C1338T:p.Y446Y;ENSG00000071991:ENST00000540086:exon9:c.C1338T:p.Y446Y;	5.23619651720611E-5	0.036
18	64197202	G	C	18	66529965	y	y	exonic	CDH19	stopgain SNV	CDH19:NM_021153:exon9:c.C1338G:p.Y446X;CDH19:NM_001271028:exon9:c.C1338G:p.Y446X;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000579658:exon9:c.C1338G:p.Y446X;ENSG00000071991:ENST00000262150:exon9:c.C1338G:p.Y446X;ENSG00000071991:ENST00000540086:exon9:c.C1338G:p.Y446X;	8.41508754173524E-4	0.29
18	64197202	G	T	18	66529965	y	y	exonic	CDH19	stopgain SNV	CDH19:NM_021153:exon9:c.C1338A:p.Y446X;CDH19:NM_001271028:exon9:c.C1338A:p.Y446X;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000579658:exon9:c.C1338A:p.Y446X;ENSG00000071991:ENST00000262150:exon9:c.C1338A:p.Y446X;ENSG00000071991:ENST00000540086:exon9:c.C1338A:p.Y446X;	2.2013500053367E-4	0.316
18	64197203	T	A	18	66529966	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.A1337T:p.Y446F;CDH19:NM_001271028:exon9:c.A1337T:p.Y446F;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.A1337T:p.Y446F;ENSG00000071991:ENST00000262150:exon9:c.A1337T:p.Y446F;ENSG00000071991:ENST00000540086:exon9:c.A1337T:p.Y446F;	9.87549178287116E-4	0.05
18	64197203	T	C	18	66529966	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.A1337G:p.Y446C;CDH19:NM_001271028:exon9:c.A1337G:p.Y446C;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.A1337G:p.Y446C;ENSG00000071991:ENST00000262150:exon9:c.A1337G:p.Y446C;ENSG00000071991:ENST00000540086:exon9:c.A1337G:p.Y446C;	1.25724896881445E-4	0.074
18	64197203	T	G	18	66529966	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon9:c.A1337C:p.Y446S;CDH19:NM_001271028:exon9:c.A1337C:p.Y446S;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon9:c.A1337C:p.Y446S;ENSG00000071991:ENST00000262150:exon9:c.A1337C:p.Y446S;ENSG00000071991:ENST00000540086:exon9:c.A1337C:p.Y446S;	7.00448537198892E-4	0.048
18	64197204	C	A	18	66529967	y	y	splicing	CDH19(NM_021153:exon10:c.1337-1G>T;NM_001271028:exon10:c.1337-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1337-1G>T;ENST00000579658:exon10:c.1337-1G>T;ENST00000540086:exon10:c.1337-1G>T)	.	.	0.999841353768018	0.872
18	64197204	C	G	18	66529967	y	y	splicing	CDH19(NM_021153:exon10:c.1337-1G>C;NM_001271028:exon10:c.1337-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1337-1G>C;ENST00000579658:exon10:c.1337-1G>C;ENST00000540086:exon10:c.1337-1G>C)	.	.	0.999841353768018	0.872
18	64197204	C	T	18	66529967	y	y	splicing	CDH19(NM_021153:exon10:c.1337-1G>A;NM_001271028:exon10:c.1337-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1337-1G>A;ENST00000579658:exon10:c.1337-1G>A;ENST00000540086:exon10:c.1337-1G>A)	.	.	0.999841353768018	0.876
18	64197205	T	A	18	66529968	y	y	splicing	CDH19(NM_021153:exon10:c.1337-2A>T;NM_001271028:exon10:c.1337-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1337-2A>T;ENST00000579658:exon10:c.1337-2A>T;ENST00000540086:exon10:c.1337-2A>T)	.	.	0.999871123278468	0.89
18	64197205	T	C	18	66529968	y	y	splicing	CDH19(NM_021153:exon10:c.1337-2A>G;NM_001271028:exon10:c.1337-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1337-2A>G;ENST00000579658:exon10:c.1337-2A>G;ENST00000540086:exon10:c.1337-2A>G)	.	.	0.999866628302876	0.88
18	64197205	T	G	18	66529968	y	y	splicing	CDH19(NM_021153:exon10:c.1337-2A>C;NM_001271028:exon10:c.1337-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon10:c.1337-2A>C;ENST00000579658:exon10:c.1337-2A>C;ENST00000540086:exon10:c.1337-2A>C)	.	.	0.999866628302876	0.88
18	64197206	G	A	18	66529969	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00299041128751778	0.062
18	64197206	G	C	18	66529969	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.978868282668896	0.716
18	64197206	G	T	18	66529969	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.919682064480653	0.736
18	64197207	C	A	18	66529970	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.79135424027567E-5	0.06
18	64197207	C	G	18	66529970	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.28310782257112E-5	0.092
18	64197207	C	T	18	66529970	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.58539175338123E-5	0.062
18	64197208	A	C	18	66529971	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.763553224525485	0.554
18	64197208	A	G	18	66529971	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.13333499061631E-4	0.074
18	64197208	A	T	18	66529971	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99905969236695	0.946
18	64197209	A	C	18	66529972	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999110221572108	0.954
18	64197209	A	G	18	66529972	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.07458612656114E-5	0.014
18	64197209	A	T	18	66529972	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.252195701480493	0.574
18	64197210	T	A	18	66529973	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.20543378537447E-5	0.0
18	64197210	T	C	18	66529973	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.938378164702424	0.972
18	64197210	T	G	18	66529973	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.16738266513237E-5	0.0
18	64197211	T	A	18	66529974	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.79311323825592E-4	0.03
18	64197211	T	C	18	66529974	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999025938866719	0.886
18	64197211	T	G	18	66529974	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.02215647993812E-4	0.034
18	64197212	T	A	18	66529975	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.01903598953791E-5	0.078
18	64197212	T	C	18	66529975	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.43318358245773E-5	0.026
18	64197212	T	G	18	66529975	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.63886699569976E-5	0.022
18	64197213	G	A	18	66529976	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.20129672987246E-5	0.062
18	64197213	G	C	18	66529976	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.21912907215106E-4	0.064
18	64197213	G	T	18	66529976	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.01941435733359E-5	0.062
18	64197214	A	C	18	66529977	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.560490543093036	0.566
18	64197214	A	G	18	66529977	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00204166967308195	0.208
18	64197214	A	T	18	66529977	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.384528144478223	0.552
18	64197215	A	C	18	66529978	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999370545683125	0.946
18	64197215	A	G	18	66529978	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.42183955309068E-4	0.046
18	64197215	A	T	18	66529978	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0235393562929805	0.414
18	64199948	T	A	18	66532711	n	y	intronic	CDH19	.	.	UTR3	ENSG00000071991	.	.	1.99153316237132E-5	0.0
18	64199948	T	C	18	66532711	n	y	intronic	CDH19	.	.	UTR3	ENSG00000071991	.	.	1.99153316237132E-5	0.0
18	64199948	T	G	18	66532711	n	y	intronic	CDH19	.	.	UTR3	ENSG00000071991	.	.	1.99153316237132E-5	0.0
18	64199949	C	A	18	66532712	n	y	intronic	CDH19	.	.	UTR3	ENSG00000071991	.	.	2.49941418127434E-5	0.0
18	64199949	C	G	18	66532712	n	y	intronic	CDH19	.	.	UTR3	ENSG00000071991	.	.	1.61811511581955E-5	0.002
18	64199949	C	T	18	66532712	n	y	intronic	CDH19	.	.	UTR3	ENSG00000071991	.	.	2.49941418127434E-5	0.0
18	64199950	C	A	18	66532713	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991(ENST00000454642:exon9:c.1304-1G>T)	.	.	4.09774573448081E-5	0.002
18	64199950	C	G	18	66532713	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991(ENST00000454642:exon9:c.1304-1G>C)	.	.	4.09774573448081E-5	0.004
18	64199950	C	T	18	66532713	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991(ENST00000454642:exon9:c.1304-1G>A)	.	.	4.09774573448081E-5	0.004
18	64199951	T	A	18	66532714	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991(ENST00000454642:exon9:c.1304-2A>T)	.	.	7.42544334184685E-5	0.006
18	64199951	T	C	18	66532714	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991(ENST00000454642:exon9:c.1304-2A>G)	.	.	3.57245582126943E-5	0.006
18	64199951	T	G	18	66532714	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991(ENST00000454642:exon9:c.1304-2A>C)	.	.	3.57245582126943E-5	0.006
18	64199952	A	C	18	66532715	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.81456590373184E-4	0.04
18	64199952	A	G	18	66532715	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.81456590373184E-4	0.04
18	64199952	A	T	18	66532715	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.81456590373184E-4	0.082
18	64199953	G	A	18	66532716	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.99153316237132E-5	0.0
18	64199953	G	C	18	66532716	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.99153316237132E-5	0.0
18	64199953	G	T	18	66532716	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.99153316237132E-5	0.0
18	64199954	A	C	18	66532717	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.15849948155271E-5	0.002
18	64199954	A	G	18	66532717	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.15849948155271E-5	0.002
18	64199954	A	T	18	66532717	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.15849948155271E-5	0.002
18	64199955	T	A	18	66532718	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.21788430707588E-5	0.002
18	64199955	T	C	18	66532718	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.21788430707588E-5	0.002
18	64199955	T	G	18	66532718	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.21788430707588E-5	0.002
18	64199956	G	A	18	66532719	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.59660858139777E-5	0.0
18	64199956	G	C	18	66532719	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.52211639126661E-5	0.004
18	64199956	G	T	18	66532719	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.59660858139777E-5	0.004
18	64199957	T	A	18	66532720	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.37501361942679E-5	0.002
18	64199957	T	C	18	66532720	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.37501361942679E-5	0.002
18	64199957	T	G	18	66532720	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.37501361942679E-5	0.002
18	64199958	G	A	18	66532721	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.67406312561927E-6	0.004
18	64199958	G	C	18	66532721	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.67406312561927E-6	0.0
18	64199958	G	T	18	66532721	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.67406312561927E-6	0.002
18	64199959	G	A	18	66532722	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.45277156108894E-5	0.004
18	64199959	G	C	18	66532722	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.45277156108894E-5	0.004
18	64199959	G	T	18	66532722	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.45277156108894E-5	0.004
18	64199960	G	A	18	66532723	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.04290327727273E-6	0.0
18	64199960	G	C	18	66532723	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.04290327727273E-6	0.0
18	64199960	G	T	18	66532723	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.04290327727273E-6	0.004
18	64199961	G	A	18	66532724	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.07620641825897E-5	0.002
18	64199961	G	C	18	66532724	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.99153316237132E-5	0.002
18	64199961	G	T	18	66532724	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.07620641825897E-5	0.004
18	64202215	G	A	18	66534978	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.26971963199444E-5	0.0
18	64202215	G	C	18	66534978	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.80766593073463E-5	0.002
18	64202215	G	T	18	66534978	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.80766593073463E-5	0.0
18	64202216	T	A	18	66534979	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.07014835428848E-5	0.0
18	64202216	T	C	18	66534979	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.78958691012223E-5	0.0
18	64202216	T	G	18	66534979	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.78958691012223E-5	0.0
18	64202217	A	C	18	66534980	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.022176310100422	0.28
18	64202217	A	G	18	66534980	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.14226949888645	0.356
18	64202217	A	T	18	66534980	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.153294738936576	0.392
18	64202218	C	A	18	66534981	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999865374741882	0.916
18	64202218	C	G	18	66534981	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.993096293674776	0.784
18	64202218	C	T	18	66534981	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998713556767419	0.948
18	64202219	T	A	18	66534982	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.718374671677799	0.526
18	64202219	T	C	18	66534982	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.937783505872538	0.576
18	64202219	T	G	18	66534982	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.141212716033738	0.426
18	64202220	T	A	18	66534983	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999585317246376	0.744
18	64202220	T	C	18	66534983	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00361753845953491	0.1
18	64202220	T	G	18	66534983	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999790388439142	0.85
18	64202221	A	C	18	66534984	y	y	splicing	CDH19(NM_021153:exon9:c.1336+2T>G;NM_001271028:exon9:c.1336+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1336+2T>G;ENST00000579658:exon9:c.1336+2T>G;ENST00000540086:exon9:c.1336+2T>G;ENST00000454642:exon8:c.1303+2T>G)	.	.	0.999946188727699	0.934
18	64202221	A	G	18	66534984	y	y	splicing	CDH19(NM_021153:exon9:c.1336+2T>C;NM_001271028:exon9:c.1336+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1336+2T>C;ENST00000579658:exon9:c.1336+2T>C;ENST00000540086:exon9:c.1336+2T>C;ENST00000454642:exon8:c.1303+2T>C)	.	.	0.977187681094609	0.618
18	64202221	A	T	18	66534984	y	y	splicing	CDH19(NM_021153:exon9:c.1336+2T>A;NM_001271028:exon9:c.1336+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1336+2T>A;ENST00000579658:exon9:c.1336+2T>A;ENST00000540086:exon9:c.1336+2T>A;ENST00000454642:exon8:c.1303+2T>A)	.	.	0.999946188727699	0.94
18	64202222	C	A	18	66534985	y	y	splicing	CDH19(NM_021153:exon9:c.1336+1G>T;NM_001271028:exon9:c.1336+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1336+1G>T;ENST00000579658:exon9:c.1336+1G>T;ENST00000540086:exon9:c.1336+1G>T;ENST00000454642:exon8:c.1303+1G>T)	.	.	0.999938990645747	0.944
18	64202222	C	G	18	66534985	y	y	splicing	CDH19(NM_021153:exon9:c.1336+1G>C;NM_001271028:exon9:c.1336+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1336+1G>C;ENST00000579658:exon9:c.1336+1G>C;ENST00000540086:exon9:c.1336+1G>C;ENST00000454642:exon8:c.1303+1G>C)	.	.	0.999938990645747	0.936
18	64202222	C	T	18	66534985	y	y	splicing	CDH19(NM_021153:exon9:c.1336+1G>A;NM_001271028:exon9:c.1336+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1336+1G>A;ENST00000579658:exon9:c.1336+1G>A;ENST00000540086:exon9:c.1336+1G>A;ENST00000454642:exon8:c.1303+1G>A)	.	.	0.999938990645747	0.946
18	64202223	A	C	18	66534986	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.T1336G:p.Y446D;CDH19:NM_001271028:exon8:c.T1336G:p.Y446D;	exonic	ENSG00000071991	stoploss SNV	ENSG00000071991:ENST00000454642:exon7:c.T1303G:p.X435G;	5.25791637845991E-5	0.102
18	64202223	A	G	18	66534986	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.T1336C:p.Y446H;CDH19:NM_001271028:exon8:c.T1336C:p.Y446H;	exonic	ENSG00000071991	stoploss SNV	ENSG00000071991:ENST00000454642:exon7:c.T1303C:p.X435R;	2.68278416247265E-5	0.006
18	64202223	A	T	18	66534986	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.T1336A:p.Y446N;CDH19:NM_001271028:exon8:c.T1336A:p.Y446N;	exonic	ENSG00000071991	stoploss SNV	ENSG00000071991:ENST00000454642:exon7:c.T1303A:p.X435R;	1.24530396195735E-5	0.008
18	64202224	T	A	18	66534987	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.A1335T:p.K445N;CDH19:NM_001271028:exon8:c.A1335T:p.K445N;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.A1335T:p.K445N;ENSG00000071991:ENST00000454642:exon7:c.A1302T:p.K434N;ENSG00000071991:ENST00000262150:exon8:c.A1335T:p.K445N;ENSG00000071991:ENST00000540086:exon8:c.A1335T:p.K445N;	0.0288841426386439	0.428
18	64202224	T	C	18	66534987	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon8:c.A1335G:p.K445K;CDH19:NM_001271028:exon8:c.A1335G:p.K445K;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.A1335G:p.K445K;ENSG00000071991:ENST00000454642:exon7:c.A1302G:p.K434K;ENSG00000071991:ENST00000262150:exon8:c.A1335G:p.K445K;ENSG00000071991:ENST00000540086:exon8:c.A1335G:p.K445K;	0.00924596584632277	0.3
18	64202224	T	G	18	66534987	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.A1335C:p.K445N;CDH19:NM_001271028:exon8:c.A1335C:p.K445N;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.A1335C:p.K445N;ENSG00000071991:ENST00000454642:exon7:c.A1302C:p.K434N;ENSG00000071991:ENST00000262150:exon8:c.A1335C:p.K445N;ENSG00000071991:ENST00000540086:exon8:c.A1335C:p.K445N;	0.0302065831163964	0.464
18	64202225	T	A	18	66534988	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.A1334T:p.K445I;CDH19:NM_001271028:exon8:c.A1334T:p.K445I;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.A1334T:p.K445I;ENSG00000071991:ENST00000454642:exon7:c.A1301T:p.K434I;ENSG00000071991:ENST00000262150:exon8:c.A1334T:p.K445I;ENSG00000071991:ENST00000540086:exon8:c.A1334T:p.K445I;	0.00180967540778976	0.118
18	64202225	T	C	18	66534988	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.A1334G:p.K445R;CDH19:NM_001271028:exon8:c.A1334G:p.K445R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.A1334G:p.K445R;ENSG00000071991:ENST00000454642:exon7:c.A1301G:p.K434R;ENSG00000071991:ENST00000262150:exon8:c.A1334G:p.K445R;ENSG00000071991:ENST00000540086:exon8:c.A1334G:p.K445R;	4.28527201847813E-5	0.0
18	64202225	T	G	18	66534988	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.A1334C:p.K445T;CDH19:NM_001271028:exon8:c.A1334C:p.K445T;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.A1334C:p.K445T;ENSG00000071991:ENST00000454642:exon7:c.A1301C:p.K434T;ENSG00000071991:ENST00000262150:exon8:c.A1334C:p.K445T;ENSG00000071991:ENST00000540086:exon8:c.A1334C:p.K445T;	2.00907395516418E-5	0.0
18	64202343	A	C	18	66535106	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.T1216G:p.Y406D;CDH19:NM_001271028:exon8:c.T1216G:p.Y406D;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.T1216G:p.Y406D;ENSG00000071991:ENST00000454642:exon7:c.T1183G:p.Y395D;ENSG00000071991:ENST00000262150:exon8:c.T1216G:p.Y406D;ENSG00000071991:ENST00000540086:exon8:c.T1216G:p.Y406D;	0.0120280232236329	0.056
18	64202343	A	G	18	66535106	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.T1216C:p.Y406H;CDH19:NM_001271028:exon8:c.T1216C:p.Y406H;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.T1216C:p.Y406H;ENSG00000071991:ENST00000454642:exon7:c.T1183C:p.Y395H;ENSG00000071991:ENST00000262150:exon8:c.T1216C:p.Y406H;ENSG00000071991:ENST00000540086:exon8:c.T1216C:p.Y406H;	0.0149473658681105	0.132
18	64202343	A	T	18	66535106	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.T1216A:p.Y406N;CDH19:NM_001271028:exon8:c.T1216A:p.Y406N;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.T1216A:p.Y406N;ENSG00000071991:ENST00000454642:exon7:c.T1183A:p.Y395N;ENSG00000071991:ENST00000262150:exon8:c.T1216A:p.Y406N;ENSG00000071991:ENST00000540086:exon8:c.T1216A:p.Y406N;	0.00832089478645266	0.046
18	64202344	C	A	18	66535107	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.G1215T:p.R405S;CDH19:NM_001271028:exon8:c.G1215T:p.R405S;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.G1215T:p.R405S;ENSG00000071991:ENST00000454642:exon7:c.G1182T:p.R394S;ENSG00000071991:ENST00000262150:exon8:c.G1215T:p.R405S;ENSG00000071991:ENST00000540086:exon8:c.G1215T:p.R405S;	0.374578113742873	0.402
18	64202344	C	G	18	66535107	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon8:c.G1215C:p.R405S;CDH19:NM_001271028:exon8:c.G1215C:p.R405S;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.G1215C:p.R405S;ENSG00000071991:ENST00000454642:exon7:c.G1182C:p.R394S;ENSG00000071991:ENST00000262150:exon8:c.G1215C:p.R405S;ENSG00000071991:ENST00000540086:exon8:c.G1215C:p.R405S;	0.0297335496082671	0.3
18	64202344	C	T	18	66535107	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon8:c.G1215A:p.R405R;CDH19:NM_001271028:exon8:c.G1215A:p.R405R;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon8:c.G1215A:p.R405R;ENSG00000071991:ENST00000454642:exon7:c.G1182A:p.R394R;ENSG00000071991:ENST00000262150:exon8:c.G1215A:p.R405R;ENSG00000071991:ENST00000540086:exon8:c.G1215A:p.R405R;	0.00867015749679264	0.194
18	64202345	C	A	18	66535108	y	y	splicing	CDH19(NM_021153:exon9:c.1215-1G>T;NM_001271028:exon9:c.1215-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1215-1G>T;ENST00000579658:exon9:c.1215-1G>T;ENST00000540086:exon9:c.1215-1G>T;ENST00000454642:exon8:c.1182-1G>T)	.	.	0.999938422912956	0.942
18	64202345	C	G	18	66535108	y	y	splicing	CDH19(NM_021153:exon9:c.1215-1G>C;NM_001271028:exon9:c.1215-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1215-1G>C;ENST00000579658:exon9:c.1215-1G>C;ENST00000540086:exon9:c.1215-1G>C;ENST00000454642:exon8:c.1182-1G>C)	.	.	0.999938422912956	0.946
18	64202345	C	T	18	66535108	y	y	splicing	CDH19(NM_021153:exon9:c.1215-1G>A;NM_001271028:exon9:c.1215-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1215-1G>A;ENST00000579658:exon9:c.1215-1G>A;ENST00000540086:exon9:c.1215-1G>A;ENST00000454642:exon8:c.1182-1G>A)	.	.	0.999938422912956	0.942
18	64202346	T	A	18	66535109	y	y	splicing	CDH19(NM_021153:exon9:c.1215-2A>T;NM_001271028:exon9:c.1215-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1215-2A>T;ENST00000579658:exon9:c.1215-2A>T;ENST00000540086:exon9:c.1215-2A>T;ENST00000454642:exon8:c.1182-2A>T)	.	.	0.999939020951004	0.936
18	64202346	T	C	18	66535109	y	y	splicing	CDH19(NM_021153:exon9:c.1215-2A>G;NM_001271028:exon9:c.1215-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1215-2A>G;ENST00000579658:exon9:c.1215-2A>G;ENST00000540086:exon9:c.1215-2A>G;ENST00000454642:exon8:c.1182-2A>G)	.	.	0.999939583170295	0.936
18	64202346	T	G	18	66535109	y	y	splicing	CDH19(NM_021153:exon9:c.1215-2A>C;NM_001271028:exon9:c.1215-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon9:c.1215-2A>C;ENST00000579658:exon9:c.1215-2A>C;ENST00000540086:exon9:c.1215-2A>C;ENST00000454642:exon8:c.1182-2A>C)	.	.	0.999939583170295	0.936
18	64202347	G	A	18	66535110	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.08438875062929E-4	0.056
18	64202347	G	C	18	66535110	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999840757882638	0.956
18	64202347	G	T	18	66535110	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.716860014107404	0.478
18	64202348	A	C	18	66535111	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.09508330039173E-4	0.002
18	64202348	A	G	18	66535111	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.08686974207335E-5	0.002
18	64202348	A	T	18	66535111	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.32386820942221E-5	0.0
18	64202349	A	C	18	66535112	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.185765942432626	0.304
18	64202349	A	G	18	66535112	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.95885263504553E-4	0.038
18	64202349	A	T	18	66535112	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.167104827576149	0.3
18	64202350	C	A	18	66535113	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.07929722438063E-4	0.006
18	64202350	C	G	18	66535113	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.5113385854806E-4	0.006
18	64202350	C	T	18	66535113	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.06367733178738E-4	0.014
18	64202351	C	A	18	66535114	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.34888665060902E-4	0.0
18	64202351	C	G	18	66535114	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.50967668008957E-4	0.044
18	64202351	C	T	18	66535114	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998383386059082	0.986
18	64202352	A	C	18	66535115	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00329103967851855	0.106
18	64202352	A	G	18	66535115	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.22803426744584E-4	0.006
18	64202352	A	T	18	66535115	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999857222828914	0.974
18	64202353	A	C	18	66535116	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0838235908916147	0.264
18	64202353	A	G	18	66535116	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.25207992011352E-4	0.08
18	64202353	A	T	18	66535116	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0291221322940375	0.246
18	64202354	A	C	18	66535117	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0493886956152785	0.336
18	64202354	A	G	18	66535117	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.15278585470593E-5	0.002
18	64202354	A	T	18	66535117	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0633089746999909	0.37
18	64202355	A	C	18	66535118	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0300516193052575	0.432
18	64202355	A	G	18	66535118	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.34898938213608E-4	0.086
18	64202355	A	T	18	66535118	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.224307266570649	0.452
18	64202356	G	A	18	66535119	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.26848964498332E-5	0.0
18	64202356	G	C	18	66535119	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.70519839959704E-5	0.006
18	64202356	G	T	18	66535119	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.55464825708947E-5	0.002
18	64211200	A	C	18	66543963	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.90485317673581E-5	0.0
18	64211200	A	G	18	66543963	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.15218178024102E-5	0.0
18	64211200	A	T	18	66543963	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.24975915077222E-5	0.0
18	64211201	G	A	18	66543964	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.33141600191487E-5	0.0
18	64211201	G	C	18	66543964	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.33141600191487E-5	0.0
18	64211201	G	T	18	66543964	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.69439264402225E-5	0.0
18	64211202	A	C	18	66543965	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.04440664505749E-4	0.192
18	64211202	A	G	18	66543965	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00510216055414679	0.32
18	64211202	A	T	18	66543965	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00151883307914649	0.168
18	64211203	C	A	18	66543966	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.26831002270472	0.362
18	64211203	C	G	18	66543966	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.336753656527054	0.4
18	64211203	C	T	18	66543966	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.613743444949936	0.406
18	64211204	A	C	18	66543967	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.41803756933466E-5	0.0
18	64211204	A	G	18	66543967	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.86471547582827E-5	0.006
18	64211204	A	T	18	66543967	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.11067077619245E-4	0.058
18	64211205	T	A	18	66543968	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998497923266368	0.898
18	64211205	T	C	18	66543968	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.989483906126916	0.882
18	64211205	T	G	18	66543968	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.997857342113862	0.868
18	64211206	A	C	18	66543969	y	y	splicing	CDH19(NM_021153:exon8:c.1214+2T>G;NM_001271028:exon8:c.1214+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.1214+2T>G;ENST00000579658:exon8:c.1214+2T>G;ENST00000540086:exon8:c.1214+2T>G;ENST00000454642:exon7:c.1181+2T>G)	.	.	0.999988247793601	0.93
18	64211206	A	G	18	66543969	y	y	splicing	CDH19(NM_021153:exon8:c.1214+2T>C;NM_001271028:exon8:c.1214+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.1214+2T>C;ENST00000579658:exon8:c.1214+2T>C;ENST00000540086:exon8:c.1214+2T>C;ENST00000454642:exon7:c.1181+2T>C)	.	.	0.994877988051647	0.688
18	64211206	A	T	18	66543969	y	y	splicing	CDH19(NM_021153:exon8:c.1214+2T>A;NM_001271028:exon8:c.1214+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.1214+2T>A;ENST00000579658:exon8:c.1214+2T>A;ENST00000540086:exon8:c.1214+2T>A;ENST00000454642:exon7:c.1181+2T>A)	.	.	0.999988247793601	0.93
18	64211207	C	A	18	66543970	y	y	splicing	CDH19(NM_021153:exon8:c.1214+1G>T;NM_001271028:exon8:c.1214+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.1214+1G>T;ENST00000579658:exon8:c.1214+1G>T;ENST00000540086:exon8:c.1214+1G>T;ENST00000454642:exon7:c.1181+1G>T)	.	.	0.999990361384395	0.938
18	64211207	C	G	18	66543970	y	y	splicing	CDH19(NM_021153:exon8:c.1214+1G>C;NM_001271028:exon8:c.1214+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.1214+1G>C;ENST00000579658:exon8:c.1214+1G>C;ENST00000540086:exon8:c.1214+1G>C;ENST00000454642:exon7:c.1181+1G>C)	.	.	0.999990361384395	0.938
18	64211207	C	T	18	66543970	y	y	splicing	CDH19(NM_021153:exon8:c.1214+1G>A;NM_001271028:exon8:c.1214+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.1214+1G>A;ENST00000579658:exon8:c.1214+1G>A;ENST00000540086:exon8:c.1214+1G>A;ENST00000454642:exon7:c.1181+1G>A)	.	.	0.999990361384395	0.938
18	64211208	C	A	18	66543971	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.G1214T:p.R405M;CDH19:NM_001271028:exon7:c.G1214T:p.R405M;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.G1214T:p.R405M;ENSG00000071991:ENST00000454642:exon6:c.G1181T:p.R394M;ENSG00000071991:ENST00000262150:exon7:c.G1214T:p.R405M;ENSG00000071991:ENST00000540086:exon7:c.G1214T:p.R405M;	0.999234217288118	0.894
18	64211208	C	G	18	66543971	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.G1214C:p.R405T;CDH19:NM_001271028:exon7:c.G1214C:p.R405T;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.G1214C:p.R405T;ENSG00000071991:ENST00000454642:exon6:c.G1181C:p.R394T;ENSG00000071991:ENST00000262150:exon7:c.G1214C:p.R405T;ENSG00000071991:ENST00000540086:exon7:c.G1214C:p.R405T;	0.996360934396941	0.752
18	64211208	C	T	18	66543971	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.G1214A:p.R405K;CDH19:NM_001271028:exon7:c.G1214A:p.R405K;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.G1214A:p.R405K;ENSG00000071991:ENST00000454642:exon6:c.G1181A:p.R394K;ENSG00000071991:ENST00000262150:exon7:c.G1214A:p.R405K;ENSG00000071991:ENST00000540086:exon7:c.G1214A:p.R405K;	0.985819106391741	0.894
18	64211209	T	A	18	66543972	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.A1213T:p.R405W;CDH19:NM_001271028:exon7:c.A1213T:p.R405W;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.A1213T:p.R405W;ENSG00000071991:ENST00000454642:exon6:c.A1180T:p.R394W;ENSG00000071991:ENST00000262150:exon7:c.A1213T:p.R405W;ENSG00000071991:ENST00000540086:exon7:c.A1213T:p.R405W;	0.0840317860077693	0.516
18	64211209	T	C	18	66543972	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.A1213G:p.R405G;CDH19:NM_001271028:exon7:c.A1213G:p.R405G;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.A1213G:p.R405G;ENSG00000071991:ENST00000454642:exon6:c.A1180G:p.R394G;ENSG00000071991:ENST00000262150:exon7:c.A1213G:p.R405G;ENSG00000071991:ENST00000540086:exon7:c.A1213G:p.R405G;	0.0590116139982257	0.306
18	64211209	T	G	18	66543972	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon7:c.A1213C:p.R405R;CDH19:NM_001271028:exon7:c.A1213C:p.R405R;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.A1213C:p.R405R;ENSG00000071991:ENST00000454642:exon6:c.A1180C:p.R394R;ENSG00000071991:ENST00000262150:exon7:c.A1213C:p.R405R;ENSG00000071991:ENST00000540086:exon7:c.A1213C:p.R405R;	0.0667017883698824	0.412
18	64211210	G	A	18	66543973	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon7:c.C1212T:p.I404I;CDH19:NM_001271028:exon7:c.C1212T:p.I404I;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.C1212T:p.I404I;ENSG00000071991:ENST00000454642:exon6:c.C1179T:p.I393I;ENSG00000071991:ENST00000262150:exon7:c.C1212T:p.I404I;ENSG00000071991:ENST00000540086:exon7:c.C1212T:p.I404I;	0.00459850730102902	0.282
18	64211210	G	C	18	66543973	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.C1212G:p.I404M;CDH19:NM_001271028:exon7:c.C1212G:p.I404M;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.C1212G:p.I404M;ENSG00000071991:ENST00000454642:exon6:c.C1179G:p.I393M;ENSG00000071991:ENST00000262150:exon7:c.C1212G:p.I404M;ENSG00000071991:ENST00000540086:exon7:c.C1212G:p.I404M;	1.92219387267613E-4	0.068
18	64211210	G	T	18	66543973	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon7:c.C1212A:p.I404I;CDH19:NM_001271028:exon7:c.C1212A:p.I404I;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.C1212A:p.I404I;ENSG00000071991:ENST00000454642:exon6:c.C1179A:p.I393I;ENSG00000071991:ENST00000262150:exon7:c.C1212A:p.I404I;ENSG00000071991:ENST00000540086:exon7:c.C1212A:p.I404I;	3.28209945478121E-4	0.034
18	64211460	T	A	18	66544223	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.A962T:p.K321I;CDH19:NM_001271028:exon7:c.A962T:p.K321I;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.A962T:p.K321I;ENSG00000071991:ENST00000454642:exon6:c.A929T:p.K310I;ENSG00000071991:ENST00000262150:exon7:c.A962T:p.K321I;ENSG00000071991:ENST00000540086:exon7:c.A962T:p.K321I;	1.27794888849537E-4	0.0
18	64211460	T	C	18	66544223	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.A962G:p.K321R;CDH19:NM_001271028:exon7:c.A962G:p.K321R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.A962G:p.K321R;ENSG00000071991:ENST00000454642:exon6:c.A929G:p.K310R;ENSG00000071991:ENST00000262150:exon7:c.A962G:p.K321R;ENSG00000071991:ENST00000540086:exon7:c.A962G:p.K321R;	1.55630311574901E-4	0.022
18	64211460	T	G	18	66544223	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.A962C:p.K321T;CDH19:NM_001271028:exon7:c.A962C:p.K321T;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.A962C:p.K321T;ENSG00000071991:ENST00000454642:exon6:c.A929C:p.K310T;ENSG00000071991:ENST00000262150:exon7:c.A962C:p.K321T;ENSG00000071991:ENST00000540086:exon7:c.A962C:p.K321T;	1.02613831739879E-4	0.014
18	64211461	T	A	18	66544224	y	y	exonic	CDH19	stopgain SNV	CDH19:NM_021153:exon7:c.A961T:p.K321X;CDH19:NM_001271028:exon7:c.A961T:p.K321X;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000579658:exon7:c.A961T:p.K321X;ENSG00000071991:ENST00000454642:exon6:c.A928T:p.K310X;ENSG00000071991:ENST00000262150:exon7:c.A961T:p.K321X;ENSG00000071991:ENST00000540086:exon7:c.A961T:p.K321X;	0.0204577342768812	0.304
18	64211461	T	C	18	66544224	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.A961G:p.K321E;CDH19:NM_001271028:exon7:c.A961G:p.K321E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.A961G:p.K321E;ENSG00000071991:ENST00000454642:exon6:c.A928G:p.K310E;ENSG00000071991:ENST00000262150:exon7:c.A961G:p.K321E;ENSG00000071991:ENST00000540086:exon7:c.A961G:p.K321E;	6.93077242517361E-5	0.004
18	64211461	T	G	18	66544224	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon7:c.A961C:p.K321Q;CDH19:NM_001271028:exon7:c.A961C:p.K321Q;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon7:c.A961C:p.K321Q;ENSG00000071991:ENST00000454642:exon6:c.A928C:p.K310Q;ENSG00000071991:ENST00000262150:exon7:c.A961C:p.K321Q;ENSG00000071991:ENST00000540086:exon7:c.A961C:p.K321Q;	1.96253099899476E-4	0.034
18	64211462	C	A	18	66544225	y	y	splicing	CDH19(NM_021153:exon8:c.961-1G>T;NM_001271028:exon8:c.961-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.961-1G>T;ENST00000579658:exon8:c.961-1G>T;ENST00000540086:exon8:c.961-1G>T;ENST00000454642:exon7:c.928-1G>T)	.	.	0.999970205305079	0.922
18	64211462	C	G	18	66544225	y	y	splicing	CDH19(NM_021153:exon8:c.961-1G>C;NM_001271028:exon8:c.961-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.961-1G>C;ENST00000579658:exon8:c.961-1G>C;ENST00000540086:exon8:c.961-1G>C;ENST00000454642:exon7:c.928-1G>C)	.	.	0.999976475802857	0.906
18	64211462	C	T	18	66544225	y	y	splicing	CDH19(NM_021153:exon8:c.961-1G>A;NM_001271028:exon8:c.961-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.961-1G>A;ENST00000579658:exon8:c.961-1G>A;ENST00000540086:exon8:c.961-1G>A;ENST00000454642:exon7:c.928-1G>A)	.	.	0.999971209564868	0.936
18	64211463	T	A	18	66544226	y	y	splicing	CDH19(NM_021153:exon8:c.961-2A>T;NM_001271028:exon8:c.961-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.961-2A>T;ENST00000579658:exon8:c.961-2A>T;ENST00000540086:exon8:c.961-2A>T;ENST00000454642:exon7:c.928-2A>T)	.	.	0.999971317418422	0.9
18	64211463	T	C	18	66544226	y	y	splicing	CDH19(NM_021153:exon8:c.961-2A>G;NM_001271028:exon8:c.961-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.961-2A>G;ENST00000579658:exon8:c.961-2A>G;ENST00000540086:exon8:c.961-2A>G;ENST00000454642:exon7:c.928-2A>G)	.	.	0.999971317418422	0.892
18	64211463	T	G	18	66544226	y	y	splicing	CDH19(NM_021153:exon8:c.961-2A>C;NM_001271028:exon8:c.961-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon8:c.961-2A>C;ENST00000579658:exon8:c.961-2A>C;ENST00000540086:exon8:c.961-2A>C;ENST00000454642:exon7:c.928-2A>C)	.	.	0.999971317418422	0.892
18	64211464	G	A	18	66544227	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.34927500536332E-4	0.012
18	64211464	G	C	18	66544227	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.991998059066478	0.564
18	64211464	G	T	18	66544227	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.187794317190616	0.296
18	64211465	C	A	18	66544228	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.98904120428615E-5	0.028
18	64211465	C	G	18	66544228	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.85138707006385E-5	0.048
18	64211465	C	T	18	66544228	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.98904120428615E-5	0.04
18	64211466	A	C	18	66544229	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0178103528430416	0.234
18	64211466	A	G	18	66544229	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.47594108224093E-4	0.0
18	64211466	A	T	18	66544229	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.983093261550596	0.804
18	64211467	A	C	18	66544230	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.11102672643995E-4	0.13
18	64211467	A	G	18	66544230	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.15833368324043E-5	0.0
18	64211467	A	T	18	66544230	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00110574219634131	0.116
18	64211468	A	C	18	66544231	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00268253839240223	0.244
18	64211468	A	G	18	66544231	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.16580372127621E-5	0.01
18	64211468	A	T	18	66544231	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00569994567387304	0.286
18	64211469	G	A	18	66544232	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.58048321413397E-5	0.002
18	64211469	G	C	18	66544232	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.1677518374496E-4	0.016
18	64211469	G	T	18	66544232	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.0831982518313E-4	0.014
18	64211470	A	C	18	66544233	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0679300368983628	0.46
18	64211470	A	G	18	66544233	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.62071100482271E-4	0.014
18	64211470	A	T	18	66544233	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0617564635665135	0.406
18	64211471	A	C	18	66544234	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0234503787281485	0.476
18	64211471	A	G	18	66544234	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.04632407847521E-4	0.018
18	64211471	A	T	18	66544234	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.073091584246324	0.46
18	64211472	A	C	18	66544235	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00321713477444638	0.234
18	64211472	A	G	18	66544235	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.42673493913883E-4	0.08
18	64211472	A	T	18	66544235	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0105089496326696	0.236
18	64211473	C	A	18	66544236	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.90602911194019E-6	0.03
18	64211473	C	G	18	66544236	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.99577239285742E-6	0.014
18	64211473	C	T	18	66544236	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.33976321832381E-5	0.02
18	64211948	A	C	18	66544711	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.52963454865561E-5	0.002
18	64211948	A	G	18	66544711	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.09897244789423E-4	0.0
18	64211948	A	T	18	66544711	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.09897244789423E-4	0.0
18	64211949	T	A	18	66544712	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.15653442483742E-4	0.014
18	64211949	T	C	18	66544712	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.8594811603102E-5	0.0
18	64211949	T	G	18	66544712	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.8594811603102E-5	0.0
18	64211950	G	A	18	66544713	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.15884529533419E-5	0.008
18	64211950	G	C	18	66544713	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.33013917995618E-4	0.006
18	64211950	G	T	18	66544713	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.32820401805111E-5	0.0
18	64211951	T	A	18	66544714	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00637098222526905	0.072
18	64211951	T	C	18	66544714	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.22247012888413E-5	0.026
18	64211951	T	G	18	66544714	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.63828193715112E-4	0.024
18	64211952	C	A	18	66544715	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.22834263985276E-4	0.002
18	64211952	C	G	18	66544715	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.34229638527174E-4	0.11
18	64211952	C	T	18	66544715	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.98665310206052E-5	0.028
18	64211953	T	A	18	66544716	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999958880116883	0.952
18	64211953	T	C	18	66544716	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998869279841221	0.944
18	64211953	T	G	18	66544716	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99998372350778	0.958
18	64211954	A	C	18	66544717	y	y	splicing	CDH19(NM_021153:exon7:c.960+2T>G;NM_001271028:exon7:c.960+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.960+2T>G;ENST00000579658:exon7:c.960+2T>G;ENST00000540086:exon7:c.960+2T>G;ENST00000454642:exon6:c.927+2T>G)	.	.	0.999993519952936	0.928
18	64211954	A	G	18	66544717	y	y	splicing	CDH19(NM_021153:exon7:c.960+2T>C;NM_001271028:exon7:c.960+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.960+2T>C;ENST00000579658:exon7:c.960+2T>C;ENST00000540086:exon7:c.960+2T>C;ENST00000454642:exon6:c.927+2T>C)	.	.	0.993596150545159	0.592
18	64211954	A	T	18	66544717	y	y	splicing	CDH19(NM_021153:exon7:c.960+2T>A;NM_001271028:exon7:c.960+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.960+2T>A;ENST00000579658:exon7:c.960+2T>A;ENST00000540086:exon7:c.960+2T>A;ENST00000454642:exon6:c.927+2T>A)	.	.	0.999993519952936	0.928
18	64211955	C	A	18	66544718	y	y	splicing	CDH19(NM_021153:exon7:c.960+1G>T;NM_001271028:exon7:c.960+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.960+1G>T;ENST00000579658:exon7:c.960+1G>T;ENST00000540086:exon7:c.960+1G>T;ENST00000454642:exon6:c.927+1G>T)	.	.	0.999988247793601	0.928
18	64211955	C	G	18	66544718	y	y	splicing	CDH19(NM_021153:exon7:c.960+1G>C;NM_001271028:exon7:c.960+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.960+1G>C;ENST00000579658:exon7:c.960+1G>C;ENST00000540086:exon7:c.960+1G>C;ENST00000454642:exon6:c.927+1G>C)	.	.	0.999988247793601	0.928
18	64211955	C	T	18	66544718	y	y	splicing	CDH19(NM_021153:exon7:c.960+1G>A;NM_001271028:exon7:c.960+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.960+1G>A;ENST00000579658:exon7:c.960+1G>A;ENST00000540086:exon7:c.960+1G>A;ENST00000454642:exon6:c.927+1G>A)	.	.	0.999988247793601	0.928
18	64211956	C	A	18	66544719	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.G960T:p.K320N;CDH19:NM_001271028:exon6:c.G960T:p.K320N;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.G960T:p.K320N;ENSG00000071991:ENST00000454642:exon5:c.G927T:p.K309N;ENSG00000071991:ENST00000262150:exon6:c.G960T:p.K320N;ENSG00000071991:ENST00000540086:exon6:c.G960T:p.K320N;	0.999985978811371	0.982
18	64211956	C	G	18	66544719	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.G960C:p.K320N;CDH19:NM_001271028:exon6:c.G960C:p.K320N;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.G960C:p.K320N;ENSG00000071991:ENST00000454642:exon5:c.G927C:p.K309N;ENSG00000071991:ENST00000262150:exon6:c.G960C:p.K320N;ENSG00000071991:ENST00000540086:exon6:c.G960C:p.K320N;	0.999995516201104	0.984
18	64211956	C	T	18	66544719	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon6:c.G960A:p.K320K;CDH19:NM_001271028:exon6:c.G960A:p.K320K;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.G960A:p.K320K;ENSG00000071991:ENST00000454642:exon5:c.G927A:p.K309K;ENSG00000071991:ENST00000262150:exon6:c.G960A:p.K320K;ENSG00000071991:ENST00000540086:exon6:c.G960A:p.K320K;	0.999976509804553	0.994
18	64211957	T	A	18	66544720	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.A959T:p.K320M;CDH19:NM_001271028:exon6:c.A959T:p.K320M;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.A959T:p.K320M;ENSG00000071991:ENST00000454642:exon5:c.A926T:p.K309M;ENSG00000071991:ENST00000262150:exon6:c.A959T:p.K320M;ENSG00000071991:ENST00000540086:exon6:c.A959T:p.K320M;	0.999834221425692	0.868
18	64211957	T	C	18	66544720	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.A959G:p.K320R;CDH19:NM_001271028:exon6:c.A959G:p.K320R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.A959G:p.K320R;ENSG00000071991:ENST00000454642:exon5:c.A926G:p.K309R;ENSG00000071991:ENST00000262150:exon6:c.A959G:p.K320R;ENSG00000071991:ENST00000540086:exon6:c.A959G:p.K320R;	0.999844706199746	0.972
18	64211957	T	G	18	66544720	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.A959C:p.K320T;CDH19:NM_001271028:exon6:c.A959C:p.K320T;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.A959C:p.K320T;ENSG00000071991:ENST00000454642:exon5:c.A926C:p.K309T;ENSG00000071991:ENST00000262150:exon6:c.A959C:p.K320T;ENSG00000071991:ENST00000540086:exon6:c.A959C:p.K320T;	0.995304478581634	0.846
18	64211958	T	A	18	66544721	y	y	exonic	CDH19	stopgain SNV	CDH19:NM_021153:exon6:c.A958T:p.K320X;CDH19:NM_001271028:exon6:c.A958T:p.K320X;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000579658:exon6:c.A958T:p.K320X;ENSG00000071991:ENST00000454642:exon5:c.A925T:p.K309X;ENSG00000071991:ENST00000262150:exon6:c.A958T:p.K320X;ENSG00000071991:ENST00000540086:exon6:c.A958T:p.K320X;	0.94328491070837	0.798
18	64211958	T	C	18	66544721	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.A958G:p.K320E;CDH19:NM_001271028:exon6:c.A958G:p.K320E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.A958G:p.K320E;ENSG00000071991:ENST00000454642:exon5:c.A925G:p.K309E;ENSG00000071991:ENST00000262150:exon6:c.A958G:p.K320E;ENSG00000071991:ENST00000540086:exon6:c.A958G:p.K320E;	0.00688688210932879	0.154
18	64211958	T	G	18	66544721	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.A958C:p.K320Q;CDH19:NM_001271028:exon6:c.A958C:p.K320Q;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.A958C:p.K320Q;ENSG00000071991:ENST00000454642:exon5:c.A925C:p.K309Q;ENSG00000071991:ENST00000262150:exon6:c.A958C:p.K320Q;ENSG00000071991:ENST00000540086:exon6:c.A958C:p.K320Q;	0.00244907485987433	0.002
18	64212139	A	C	18	66544902	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.T777G:p.S259R;CDH19:NM_001271028:exon6:c.T777G:p.S259R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.T777G:p.S259R;ENSG00000071991:ENST00000454642:exon5:c.T744G:p.S248R;ENSG00000071991:ENST00000262150:exon6:c.T777G:p.S259R;ENSG00000071991:ENST00000540086:exon6:c.T777G:p.S259R;	1.14331887952805E-4	0.006
18	64212139	A	G	18	66544902	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon6:c.T777C:p.S259S;CDH19:NM_001271028:exon6:c.T777C:p.S259S;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.T777C:p.S259S;ENSG00000071991:ENST00000454642:exon5:c.T744C:p.S248S;ENSG00000071991:ENST00000262150:exon6:c.T777C:p.S259S;ENSG00000071991:ENST00000540086:exon6:c.T777C:p.S259S;	5.08238846935333E-4	0.092
18	64212139	A	T	18	66544902	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.T777A:p.S259R;CDH19:NM_001271028:exon6:c.T777A:p.S259R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.T777A:p.S259R;ENSG00000071991:ENST00000454642:exon5:c.T744A:p.S248R;ENSG00000071991:ENST00000262150:exon6:c.T777A:p.S259R;ENSG00000071991:ENST00000540086:exon6:c.T777A:p.S259R;	7.16710894825546E-5	0.002
18	64212140	C	A	18	66544903	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.G776T:p.S259I;CDH19:NM_001271028:exon6:c.G776T:p.S259I;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.G776T:p.S259I;ENSG00000071991:ENST00000454642:exon5:c.G743T:p.S248I;ENSG00000071991:ENST00000262150:exon6:c.G776T:p.S259I;ENSG00000071991:ENST00000540086:exon6:c.G776T:p.S259I;	0.863742978961353	0.472
18	64212140	C	G	18	66544903	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.G776C:p.S259T;CDH19:NM_001271028:exon6:c.G776C:p.S259T;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.G776C:p.S259T;ENSG00000071991:ENST00000454642:exon5:c.G743C:p.S248T;ENSG00000071991:ENST00000262150:exon6:c.G776C:p.S259T;ENSG00000071991:ENST00000540086:exon6:c.G776C:p.S259T;	0.0484752206123803	0.444
18	64212140	C	T	18	66544903	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon6:c.G776A:p.S259N;CDH19:NM_001271028:exon6:c.G776A:p.S259N;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon6:c.G776A:p.S259N;ENSG00000071991:ENST00000454642:exon5:c.G743A:p.S248N;ENSG00000071991:ENST00000262150:exon6:c.G776A:p.S259N;ENSG00000071991:ENST00000540086:exon6:c.G776A:p.S259N;	0.0915617050792041	0.276
18	64212141	C	A	18	66544904	y	y	splicing	CDH19(NM_021153:exon7:c.776-1G>T;NM_001271028:exon7:c.776-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.776-1G>T;ENST00000579658:exon7:c.776-1G>T;ENST00000540086:exon7:c.776-1G>T;ENST00000454642:exon6:c.743-1G>T)	.	.	0.999972155025474	0.88
18	64212141	C	G	18	66544904	y	y	splicing	CDH19(NM_021153:exon7:c.776-1G>C;NM_001271028:exon7:c.776-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.776-1G>C;ENST00000579658:exon7:c.776-1G>C;ENST00000540086:exon7:c.776-1G>C;ENST00000454642:exon6:c.743-1G>C)	.	.	0.999969255906173	0.872
18	64212141	C	T	18	66544904	y	y	splicing	CDH19(NM_021153:exon7:c.776-1G>A;NM_001271028:exon7:c.776-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.776-1G>A;ENST00000579658:exon7:c.776-1G>A;ENST00000540086:exon7:c.776-1G>A;ENST00000454642:exon6:c.743-1G>A)	.	.	0.999972155025474	0.864
18	64212142	T	A	18	66544905	y	y	splicing	CDH19(NM_021153:exon7:c.776-2A>T;NM_001271028:exon7:c.776-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.776-2A>T;ENST00000579658:exon7:c.776-2A>T;ENST00000540086:exon7:c.776-2A>T;ENST00000454642:exon6:c.743-2A>T)	.	.	0.999980516178445	0.842
18	64212142	T	C	18	66544905	y	y	splicing	CDH19(NM_021153:exon7:c.776-2A>G;NM_001271028:exon7:c.776-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.776-2A>G;ENST00000579658:exon7:c.776-2A>G;ENST00000540086:exon7:c.776-2A>G;ENST00000454642:exon6:c.743-2A>G)	.	.	0.999980516178445	0.804
18	64212142	T	G	18	66544905	y	y	splicing	CDH19(NM_021153:exon7:c.776-2A>C;NM_001271028:exon7:c.776-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon7:c.776-2A>C;ENST00000579658:exon7:c.776-2A>C;ENST00000540086:exon7:c.776-2A>C;ENST00000454642:exon6:c.743-2A>C)	.	.	0.999980516178445	0.804
18	64212143	T	A	18	66544906	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.6491742146399E-5	0.0
18	64212143	T	C	18	66544906	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0586612945739966	0.412
18	64212143	T	G	18	66544906	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.29714142861267E-5	0.022
18	64212144	T	A	18	66544907	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.90063836091761E-5	0.0
18	64212144	T	C	18	66544907	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.87020155080008E-5	0.002
18	64212144	T	G	18	66544907	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.60629901256546E-5	0.004
18	64212145	A	C	18	66544908	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00178343869949643	0.108
18	64212145	A	G	18	66544908	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.14295954790464E-5	0.0
18	64212145	A	T	18	66544908	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.37944319063512E-4	0.04
18	64212146	A	C	18	66544909	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0123931382211533	0.182
18	64212146	A	G	18	66544909	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.48742610489139E-5	0.02
18	64212146	A	T	18	66544909	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00281058163519891	0.094
18	64212147	A	C	18	66544910	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0523265944598922	0.136
18	64212147	A	G	18	66544910	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.577062523979E-4	0.014
18	64212147	A	T	18	66544910	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.119665236145281	0.258
18	64212148	A	C	18	66544911	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.056976682540336	0.11
18	64212148	A	G	18	66544911	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00118410569644346	0.012
18	64212148	A	T	18	66544911	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00484997442836326	0.148
18	64212149	A	C	18	66544912	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.49984947142372E-4	0.056
18	64212149	A	G	18	66544912	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.30107085935487E-4	0.05
18	64212149	A	T	18	66544912	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.75985210938278E-4	0.046
18	64212150	C	A	18	66544913	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.89510018158246E-4	0.004
18	64212150	C	G	18	66544913	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.38161180011598E-4	0.0
18	64212150	C	T	18	66544913	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.4194638810797E-4	0.012
18	64212151	A	C	18	66544914	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00234191707106303	0.292
18	64212151	A	G	18	66544914	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00151286852423836	0.064
18	64212151	A	T	18	66544914	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999953460988481	0.976
18	64212152	A	C	18	66544915	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00133865363470972	0.122
18	64212152	A	G	18	66544915	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.91924547571189E-4	0.008
18	64212152	A	T	18	66544915	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00130435342121293	0.076
18	64218323	T	A	18	66551086	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.55233626830096E-5	0.0
18	64218323	T	C	18	66551086	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.67367984218997E-5	0.0
18	64218323	T	G	18	66551086	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.67367984218997E-5	0.01
18	64218324	T	A	18	66551087	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00473126442337914	0.024
18	64218324	T	C	18	66551087	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00530016317698897	0.014
18	64218324	T	G	18	66551087	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00530016317698897	0.018
18	64218325	A	C	18	66551088	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.499923499907312	0.532
18	64218325	A	G	18	66551088	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.41723793138644	0.648
18	64218325	A	T	18	66551088	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.850891462824683	0.662
18	64218326	C	A	18	66551089	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998833517753205	0.89
18	64218326	C	G	18	66551089	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.996862616260268	0.884
18	64218326	C	T	18	66551089	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.994745603039682	0.962
18	64218327	T	A	18	66551090	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.997996713471235	0.876
18	64218327	T	C	18	66551090	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.997448276839668	0.928
18	64218327	T	G	18	66551090	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998576470110934	0.878
18	64218328	T	A	18	66551091	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998315028636416	0.898
18	64218328	T	C	18	66551091	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.575236781268469	0.378
18	64218328	T	G	18	66551091	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999883089671292	0.942
18	64218329	A	C	18	66551092	y	y	splicing	CDH19(NM_021153:exon6:c.775+2T>G;NM_001271028:exon6:c.775+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.775+2T>G;ENST00000579658:exon6:c.775+2T>G;ENST00000540086:exon6:c.775+2T>G;ENST00000454642:exon5:c.742+2T>G)	.	.	0.999988247793601	0.932
18	64218329	A	G	18	66551092	y	y	splicing	CDH19(NM_021153:exon6:c.775+2T>C;NM_001271028:exon6:c.775+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.775+2T>C;ENST00000579658:exon6:c.775+2T>C;ENST00000540086:exon6:c.775+2T>C;ENST00000454642:exon5:c.742+2T>C)	.	.	0.994669226766359	0.706
18	64218329	A	T	18	66551092	y	y	splicing	CDH19(NM_021153:exon6:c.775+2T>A;NM_001271028:exon6:c.775+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.775+2T>A;ENST00000579658:exon6:c.775+2T>A;ENST00000540086:exon6:c.775+2T>A;ENST00000454642:exon5:c.742+2T>A)	.	.	0.999988247793601	0.932
18	64218330	C	A	18	66551093	y	y	splicing	CDH19(NM_021153:exon6:c.775+1G>T;NM_001271028:exon6:c.775+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.775+1G>T;ENST00000579658:exon6:c.775+1G>T;ENST00000540086:exon6:c.775+1G>T;ENST00000454642:exon5:c.742+1G>T)	.	.	0.999989072007339	0.934
18	64218330	C	G	18	66551093	y	y	splicing	CDH19(NM_021153:exon6:c.775+1G>C;NM_001271028:exon6:c.775+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.775+1G>C;ENST00000579658:exon6:c.775+1G>C;ENST00000540086:exon6:c.775+1G>C;ENST00000454642:exon5:c.742+1G>C)	.	.	0.999989072007339	0.934
18	64218330	C	T	18	66551093	y	y	splicing	CDH19(NM_021153:exon6:c.775+1G>A;NM_001271028:exon6:c.775+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.775+1G>A;ENST00000579658:exon6:c.775+1G>A;ENST00000540086:exon6:c.775+1G>A;ENST00000454642:exon5:c.742+1G>A)	.	.	0.999989072007339	0.934
18	64218331	T	A	18	66551094	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.A775T:p.S259C;CDH19:NM_001271028:exon5:c.A775T:p.S259C;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A775T:p.S259C;ENSG00000071991:ENST00000454642:exon4:c.A742T:p.S248C;ENSG00000071991:ENST00000262150:exon5:c.A775T:p.S259C;ENSG00000071991:ENST00000540086:exon5:c.A775T:p.S259C;	0.00207268519590383	0.06
18	64218331	T	C	18	66551094	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.A775G:p.S259G;CDH19:NM_001271028:exon5:c.A775G:p.S259G;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A775G:p.S259G;ENSG00000071991:ENST00000454642:exon4:c.A742G:p.S248G;ENSG00000071991:ENST00000262150:exon5:c.A775G:p.S259G;ENSG00000071991:ENST00000540086:exon5:c.A775G:p.S259G;	2.2780216128268E-4	0.044
18	64218331	T	G	18	66551094	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.A775C:p.S259R;CDH19:NM_001271028:exon5:c.A775C:p.S259R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A775C:p.S259R;ENSG00000071991:ENST00000454642:exon4:c.A742C:p.S248R;ENSG00000071991:ENST00000262150:exon5:c.A775C:p.S259R;ENSG00000071991:ENST00000540086:exon5:c.A775C:p.S259R;	0.00151412861270965	0.048
18	64218332	T	A	18	66551095	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.A774T:p.E258D;CDH19:NM_001271028:exon5:c.A774T:p.E258D;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A774T:p.E258D;ENSG00000071991:ENST00000454642:exon4:c.A741T:p.E247D;ENSG00000071991:ENST00000262150:exon5:c.A774T:p.E258D;ENSG00000071991:ENST00000540086:exon5:c.A774T:p.E258D;	0.116591533736198	0.562
18	64218332	T	C	18	66551095	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon5:c.A774G:p.E258E;CDH19:NM_001271028:exon5:c.A774G:p.E258E;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A774G:p.E258E;ENSG00000071991:ENST00000454642:exon4:c.A741G:p.E247E;ENSG00000071991:ENST00000262150:exon5:c.A774G:p.E258E;ENSG00000071991:ENST00000540086:exon5:c.A774G:p.E258E;	0.0565582410907342	0.278
18	64218332	T	G	18	66551095	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.A774C:p.E258D;CDH19:NM_001271028:exon5:c.A774C:p.E258D;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A774C:p.E258D;ENSG00000071991:ENST00000454642:exon4:c.A741C:p.E247D;ENSG00000071991:ENST00000262150:exon5:c.A774C:p.E258D;ENSG00000071991:ENST00000540086:exon5:c.A774C:p.E258D;	0.170296407099894	0.608
18	64218333	T	A	18	66551096	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.A773T:p.E258V;CDH19:NM_001271028:exon5:c.A773T:p.E258V;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A773T:p.E258V;ENSG00000071991:ENST00000454642:exon4:c.A740T:p.E247V;ENSG00000071991:ENST00000262150:exon5:c.A773T:p.E258V;ENSG00000071991:ENST00000540086:exon5:c.A773T:p.E258V;	0.380435220897957	0.39
18	64218333	T	C	18	66551096	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.A773G:p.E258G;CDH19:NM_001271028:exon5:c.A773G:p.E258G;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A773G:p.E258G;ENSG00000071991:ENST00000454642:exon4:c.A740G:p.E247G;ENSG00000071991:ENST00000262150:exon5:c.A773G:p.E258G;ENSG00000071991:ENST00000540086:exon5:c.A773G:p.E258G;	0.0375433334705777	0.108
18	64218333	T	G	18	66551096	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.A773C:p.E258A;CDH19:NM_001271028:exon5:c.A773C:p.E258A;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A773C:p.E258A;ENSG00000071991:ENST00000454642:exon4:c.A740C:p.E247A;ENSG00000071991:ENST00000262150:exon5:c.A773C:p.E258A;ENSG00000071991:ENST00000540086:exon5:c.A773C:p.E258A;	0.00523215179020106	0.02
18	64218494	T	A	18	66551257	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon5:c.A612T:p.G204G;CDH19:NM_001271028:exon5:c.A612T:p.G204G;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A612T:p.G204G;ENSG00000071991:ENST00000454642:exon4:c.A579T:p.G193G;ENSG00000071991:ENST00000262150:exon5:c.A612T:p.G204G;ENSG00000071991:ENST00000540086:exon5:c.A612T:p.G204G;	0.00236374192607233	0.046
18	64218494	T	C	18	66551257	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon5:c.A612G:p.G204G;CDH19:NM_001271028:exon5:c.A612G:p.G204G;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A612G:p.G204G;ENSG00000071991:ENST00000454642:exon4:c.A579G:p.G193G;ENSG00000071991:ENST00000262150:exon5:c.A612G:p.G204G;ENSG00000071991:ENST00000540086:exon5:c.A612G:p.G204G;	0.00442519365665371	0.014
18	64218494	T	G	18	66551257	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon5:c.A612C:p.G204G;CDH19:NM_001271028:exon5:c.A612C:p.G204G;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.A612C:p.G204G;ENSG00000071991:ENST00000454642:exon4:c.A579C:p.G193G;ENSG00000071991:ENST00000262150:exon5:c.A612C:p.G204G;ENSG00000071991:ENST00000540086:exon5:c.A612C:p.G204G;	0.0041919141924632	0.022
18	64218495	C	A	18	66551258	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.G611T:p.G204V;CDH19:NM_001271028:exon5:c.G611T:p.G204V;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.G611T:p.G204V;ENSG00000071991:ENST00000454642:exon4:c.G578T:p.G193V;ENSG00000071991:ENST00000262150:exon5:c.G611T:p.G204V;ENSG00000071991:ENST00000540086:exon5:c.G611T:p.G204V;	0.99924277181415	0.774
18	64218495	C	G	18	66551258	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.G611C:p.G204A;CDH19:NM_001271028:exon5:c.G611C:p.G204A;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.G611C:p.G204A;ENSG00000071991:ENST00000454642:exon4:c.G578C:p.G193A;ENSG00000071991:ENST00000262150:exon5:c.G611C:p.G204A;ENSG00000071991:ENST00000540086:exon5:c.G611C:p.G204A;	0.984238951716644	0.862
18	64218495	C	T	18	66551258	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon5:c.G611A:p.G204E;CDH19:NM_001271028:exon5:c.G611A:p.G204E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon5:c.G611A:p.G204E;ENSG00000071991:ENST00000454642:exon4:c.G578A:p.G193E;ENSG00000071991:ENST00000262150:exon5:c.G611A:p.G204E;ENSG00000071991:ENST00000540086:exon5:c.G611A:p.G204E;	0.997182662413714	0.686
18	64218496	C	A	18	66551259	y	y	splicing	CDH19(NM_021153:exon6:c.611-1G>T;NM_001271028:exon6:c.611-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.611-1G>T;ENST00000579658:exon6:c.611-1G>T;ENST00000540086:exon6:c.611-1G>T;ENST00000454642:exon5:c.578-1G>T)	.	.	0.999978574714351	0.864
18	64218496	C	G	18	66551259	y	y	splicing	CDH19(NM_021153:exon6:c.611-1G>C;NM_001271028:exon6:c.611-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.611-1G>C;ENST00000579658:exon6:c.611-1G>C;ENST00000540086:exon6:c.611-1G>C;ENST00000454642:exon5:c.578-1G>C)	.	.	0.999978574714351	0.898
18	64218496	C	T	18	66551259	y	y	splicing	CDH19(NM_021153:exon6:c.611-1G>A;NM_001271028:exon6:c.611-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.611-1G>A;ENST00000579658:exon6:c.611-1G>A;ENST00000540086:exon6:c.611-1G>A;ENST00000454642:exon5:c.578-1G>A)	.	.	0.999978574714351	0.904
18	64218497	T	A	18	66551260	y	y	splicing	CDH19(NM_021153:exon6:c.611-2A>T;NM_001271028:exon6:c.611-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.611-2A>T;ENST00000579658:exon6:c.611-2A>T;ENST00000540086:exon6:c.611-2A>T;ENST00000454642:exon5:c.578-2A>T)	.	.	0.999986741007567	0.942
18	64218497	T	C	18	66551260	y	y	splicing	CDH19(NM_021153:exon6:c.611-2A>G;NM_001271028:exon6:c.611-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.611-2A>G;ENST00000579658:exon6:c.611-2A>G;ENST00000540086:exon6:c.611-2A>G;ENST00000454642:exon5:c.578-2A>G)	.	.	0.999986741007567	0.942
18	64218497	T	G	18	66551260	y	y	splicing	CDH19(NM_021153:exon6:c.611-2A>C;NM_001271028:exon6:c.611-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon6:c.611-2A>C;ENST00000579658:exon6:c.611-2A>C;ENST00000540086:exon6:c.611-2A>C;ENST00000454642:exon5:c.578-2A>C)	.	.	0.999986741007567	0.942
18	64218498	T	A	18	66551261	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.95837867572742E-4	0.004
18	64218498	T	C	18	66551261	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.679360072159381	0.404
18	64218498	T	G	18	66551261	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.97756827618057E-4	0.098
18	64218499	T	A	18	66551262	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.58044335859371E-5	0.004
18	64218499	T	C	18	66551262	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.08801807933163E-4	0.048
18	64218499	T	G	18	66551262	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.04328883691784E-4	0.016
18	64218500	A	C	18	66551263	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.975046234587951	0.662
18	64218500	A	G	18	66551263	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0401671310320462	0.232
18	64218500	A	T	18	66551263	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.590326328434607	0.476
18	64218501	A	C	18	66551264	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.949591119659197	0.644
18	64218501	A	G	18	66551264	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0011875954950258	0.04
18	64218501	A	T	18	66551264	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.879837452289599	0.572
18	64218502	A	C	18	66551265	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.207193747577624	0.398
18	64218502	A	G	18	66551265	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.07536772687864E-4	0.006
18	64218502	A	T	18	66551265	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.558400678474665	0.506
18	64218503	A	C	18	66551266	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0019287983625037	0.148
18	64218503	A	G	18	66551266	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.86282416153835E-5	0.136
18	64218503	A	T	18	66551266	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0178306254462982	0.166
18	64218504	A	C	18	66551267	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999967677236851	0.978
18	64218504	A	G	18	66551267	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0344701190096137	0.12
18	64218504	A	T	18	66551267	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.978797323574204	0.646
18	64218505	T	A	18	66551268	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.09905969093344E-5	0.036
18	64218505	T	C	18	66551268	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.23292881134733E-5	0.0
18	64218505	T	G	18	66551268	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.56509630440667E-5	0.064
18	64218506	A	C	18	66551269	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.9998747765686	0.862
18	64218506	A	G	18	66551269	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0066351767050479	0.198
18	64218506	A	T	18	66551269	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0697462578396464	0.504
18	64218507	T	A	18	66551270	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.03851777411203E-5	0.024
18	64218507	T	C	18	66551270	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.48388152877269E-4	0.05
18	64218507	T	G	18	66551270	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.65570011386112E-5	0.006
18	64221634	A	C	18	66554397	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00364543171468215	0.07
18	64221634	A	G	18	66554397	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.15210074692737E-4	0.01
18	64221634	A	T	18	66554397	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00204837288765637	0.04
18	64221635	C	A	18	66554398	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.10556476333779E-4	0.014
18	64221635	C	G	18	66554398	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.34619532534421E-5	0.024
18	64221635	C	T	18	66554398	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.23091793704081E-5	0.01
18	64221636	A	C	18	66554399	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.1714535005411E-4	0.174
18	64221636	A	G	18	66554399	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0193662894439023	0.168
18	64221636	A	T	18	66554399	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00885583198402102	0.128
18	64221637	A	C	18	66554400	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00127596212594344	0.12
18	64221637	A	G	18	66554400	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.99094131861811E-4	0.026
18	64221637	A	T	18	66554400	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.03049961151052E-4	0.024
18	64221638	A	C	18	66554401	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00116835087179087	0.018
18	64221638	A	G	18	66554401	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0023591311873522	0.064
18	64221638	A	T	18	66554401	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.84859330223767E-4	0.136
18	64221639	T	A	18	66554402	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99960797007236	0.98
18	64221639	T	C	18	66554402	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99977912166647	0.92
18	64221639	T	G	18	66554402	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999955485886911	0.988
18	64221640	A	C	18	66554403	y	y	splicing	CDH19(NM_021153:exon5:c.610+2T>G;NM_001271028:exon5:c.610+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.610+2T>G;ENST00000579658:exon5:c.610+2T>G;ENST00000540086:exon5:c.610+2T>G;ENST00000454642:exon4:c.577+2T>G)	.	.	0.999993519952936	0.92
18	64221640	A	G	18	66554403	y	y	splicing	CDH19(NM_021153:exon5:c.610+2T>C;NM_001271028:exon5:c.610+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.610+2T>C;ENST00000579658:exon5:c.610+2T>C;ENST00000540086:exon5:c.610+2T>C;ENST00000454642:exon4:c.577+2T>C)	.	.	0.993596150545159	0.6
18	64221640	A	T	18	66554403	y	y	splicing	CDH19(NM_021153:exon5:c.610+2T>A;NM_001271028:exon5:c.610+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.610+2T>A;ENST00000579658:exon5:c.610+2T>A;ENST00000540086:exon5:c.610+2T>A;ENST00000454642:exon4:c.577+2T>A)	.	.	0.999993519952936	0.92
18	64221641	C	A	18	66554404	y	y	splicing	CDH19(NM_021153:exon5:c.610+1G>T;NM_001271028:exon5:c.610+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.610+1G>T;ENST00000579658:exon5:c.610+1G>T;ENST00000540086:exon5:c.610+1G>T;ENST00000454642:exon4:c.577+1G>T)	.	.	0.999992446697775	0.928
18	64221641	C	G	18	66554404	y	y	splicing	CDH19(NM_021153:exon5:c.610+1G>C;NM_001271028:exon5:c.610+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.610+1G>C;ENST00000579658:exon5:c.610+1G>C;ENST00000540086:exon5:c.610+1G>C;ENST00000454642:exon4:c.577+1G>C)	.	.	0.999992446697775	0.928
18	64221641	C	T	18	66554404	y	y	splicing	CDH19(NM_021153:exon5:c.610+1G>A;NM_001271028:exon5:c.610+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.610+1G>A;ENST00000579658:exon5:c.610+1G>A;ENST00000540086:exon5:c.610+1G>A;ENST00000454642:exon4:c.577+1G>A)	.	.	0.999992446697775	0.93
18	64221642	C	A	18	66554405	y	y	exonic	CDH19	stopgain SNV	CDH19:NM_021153:exon4:c.G610T:p.G204X;CDH19:NM_001271028:exon4:c.G610T:p.G204X;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000579658:exon4:c.G610T:p.G204X;ENSG00000071991:ENST00000454642:exon3:c.G577T:p.G193X;ENSG00000071991:ENST00000262150:exon4:c.G610T:p.G204X;ENSG00000071991:ENST00000540086:exon4:c.G610T:p.G204X;	0.999985243702035	0.938
18	64221642	C	G	18	66554405	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon4:c.G610C:p.G204R;CDH19:NM_001271028:exon4:c.G610C:p.G204R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.G610C:p.G204R;ENSG00000071991:ENST00000454642:exon3:c.G577C:p.G193R;ENSG00000071991:ENST00000262150:exon4:c.G610C:p.G204R;ENSG00000071991:ENST00000540086:exon4:c.G610C:p.G204R;	0.999991294686458	0.998
18	64221642	C	T	18	66554405	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon4:c.G610A:p.G204R;CDH19:NM_001271028:exon4:c.G610A:p.G204R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.G610A:p.G204R;ENSG00000071991:ENST00000454642:exon3:c.G577A:p.G193R;ENSG00000071991:ENST00000262150:exon4:c.G610A:p.G204R;ENSG00000071991:ENST00000540086:exon4:c.G610A:p.G204R;	0.999984386215169	0.996
18	64221643	T	A	18	66554406	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon4:c.A609T:p.T203T;CDH19:NM_001271028:exon4:c.A609T:p.T203T;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.A609T:p.T203T;ENSG00000071991:ENST00000454642:exon3:c.A576T:p.T192T;ENSG00000071991:ENST00000262150:exon4:c.A609T:p.T203T;ENSG00000071991:ENST00000540086:exon4:c.A609T:p.T203T;	0.999264199877566	0.958
18	64221643	T	C	18	66554406	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon4:c.A609G:p.T203T;CDH19:NM_001271028:exon4:c.A609G:p.T203T;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.A609G:p.T203T;ENSG00000071991:ENST00000454642:exon3:c.A576G:p.T192T;ENSG00000071991:ENST00000262150:exon4:c.A609G:p.T203T;ENSG00000071991:ENST00000540086:exon4:c.A609G:p.T203T;	0.998729424138542	0.952
18	64221643	T	G	18	66554406	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon4:c.A609C:p.T203T;CDH19:NM_001271028:exon4:c.A609C:p.T203T;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.A609C:p.T203T;ENSG00000071991:ENST00000454642:exon3:c.A576C:p.T192T;ENSG00000071991:ENST00000262150:exon4:c.A609C:p.T203T;ENSG00000071991:ENST00000540086:exon4:c.A609C:p.T203T;	0.999328975915128	0.948
18	64221644	G	A	18	66554407	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon4:c.C608T:p.T203I;CDH19:NM_001271028:exon4:c.C608T:p.T203I;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.C608T:p.T203I;ENSG00000071991:ENST00000454642:exon3:c.C575T:p.T192I;ENSG00000071991:ENST00000262150:exon4:c.C608T:p.T203I;ENSG00000071991:ENST00000540086:exon4:c.C608T:p.T203I;	0.879861769665763	0.726
18	64221644	G	C	18	66554407	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon4:c.C608G:p.T203R;CDH19:NM_001271028:exon4:c.C608G:p.T203R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.C608G:p.T203R;ENSG00000071991:ENST00000454642:exon3:c.C575G:p.T192R;ENSG00000071991:ENST00000262150:exon4:c.C608G:p.T203R;ENSG00000071991:ENST00000540086:exon4:c.C608G:p.T203R;	0.00839153453825583	0.162
18	64221644	G	T	18	66554407	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon4:c.C608A:p.T203K;CDH19:NM_001271028:exon4:c.C608A:p.T203K;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.C608A:p.T203K;ENSG00000071991:ENST00000454642:exon3:c.C575A:p.T192K;ENSG00000071991:ENST00000262150:exon4:c.C608A:p.T203K;ENSG00000071991:ENST00000540086:exon4:c.C608A:p.T203K;	0.0289944846776596	0.212
18	64221760	T	A	18	66554523	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon4:c.A492T:p.G164G;CDH19:NM_001271028:exon4:c.A492T:p.G164G;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.A492T:p.G164G;ENSG00000071991:ENST00000454642:exon3:c.A459T:p.G153G;ENSG00000071991:ENST00000262150:exon4:c.A492T:p.G164G;ENSG00000071991:ENST00000540086:exon4:c.A492T:p.G164G;	1.23406153811958E-5	0.002
18	64221760	T	C	18	66554523	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon4:c.A492G:p.G164G;CDH19:NM_001271028:exon4:c.A492G:p.G164G;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.A492G:p.G164G;ENSG00000071991:ENST00000454642:exon3:c.A459G:p.G153G;ENSG00000071991:ENST00000262150:exon4:c.A492G:p.G164G;ENSG00000071991:ENST00000540086:exon4:c.A492G:p.G164G;	2.75761943453154E-5	0.018
18	64221760	T	G	18	66554523	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon4:c.A492C:p.G164G;CDH19:NM_001271028:exon4:c.A492C:p.G164G;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.A492C:p.G164G;ENSG00000071991:ENST00000454642:exon3:c.A459C:p.G153G;ENSG00000071991:ENST00000262150:exon4:c.A492C:p.G164G;ENSG00000071991:ENST00000540086:exon4:c.A492C:p.G164G;	3.54856900754841E-5	0.012
18	64221761	C	A	18	66554524	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon4:c.G491T:p.G164V;CDH19:NM_001271028:exon4:c.G491T:p.G164V;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.G491T:p.G164V;ENSG00000071991:ENST00000454642:exon3:c.G458T:p.G153V;ENSG00000071991:ENST00000262150:exon4:c.G491T:p.G164V;ENSG00000071991:ENST00000540086:exon4:c.G491T:p.G164V;	0.767766996662173	0.616
18	64221761	C	G	18	66554524	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon4:c.G491C:p.G164A;CDH19:NM_001271028:exon4:c.G491C:p.G164A;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.G491C:p.G164A;ENSG00000071991:ENST00000454642:exon3:c.G458C:p.G153A;ENSG00000071991:ENST00000262150:exon4:c.G491C:p.G164A;ENSG00000071991:ENST00000540086:exon4:c.G491C:p.G164A;	0.893006640245898	0.64
18	64221761	C	T	18	66554524	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon4:c.G491A:p.G164E;CDH19:NM_001271028:exon4:c.G491A:p.G164E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon4:c.G491A:p.G164E;ENSG00000071991:ENST00000454642:exon3:c.G458A:p.G153E;ENSG00000071991:ENST00000262150:exon4:c.G491A:p.G164E;ENSG00000071991:ENST00000540086:exon4:c.G491A:p.G164E;	0.340515980358018	0.53
18	64221762	C	A	18	66554525	y	y	splicing	CDH19(NM_021153:exon5:c.491-1G>T;NM_001271028:exon5:c.491-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.491-1G>T;ENST00000579658:exon5:c.491-1G>T;ENST00000540086:exon5:c.491-1G>T;ENST00000454642:exon4:c.458-1G>T)	.	.	0.999965414246739	0.95
18	64221762	C	G	18	66554525	y	y	splicing	CDH19(NM_021153:exon5:c.491-1G>C;NM_001271028:exon5:c.491-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.491-1G>C;ENST00000579658:exon5:c.491-1G>C;ENST00000540086:exon5:c.491-1G>C;ENST00000454642:exon4:c.458-1G>C)	.	.	0.999965414246739	0.948
18	64221762	C	T	18	66554525	y	y	splicing	CDH19(NM_021153:exon5:c.491-1G>A;NM_001271028:exon5:c.491-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.491-1G>A;ENST00000579658:exon5:c.491-1G>A;ENST00000540086:exon5:c.491-1G>A;ENST00000454642:exon4:c.458-1G>A)	.	.	0.999965414246739	0.95
18	64221763	T	A	18	66554526	y	y	splicing	CDH19(NM_021153:exon5:c.491-2A>T;NM_001271028:exon5:c.491-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.491-2A>T;ENST00000579658:exon5:c.491-2A>T;ENST00000540086:exon5:c.491-2A>T;ENST00000454642:exon4:c.458-2A>T)	.	.	0.9999784785434	0.944
18	64221763	T	C	18	66554526	y	y	splicing	CDH19(NM_021153:exon5:c.491-2A>G;NM_001271028:exon5:c.491-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.491-2A>G;ENST00000579658:exon5:c.491-2A>G;ENST00000540086:exon5:c.491-2A>G;ENST00000454642:exon4:c.458-2A>G)	.	.	0.999988510283643	0.936
18	64221763	T	G	18	66554526	y	y	splicing	CDH19(NM_021153:exon5:c.491-2A>C;NM_001271028:exon5:c.491-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon5:c.491-2A>C;ENST00000579658:exon5:c.491-2A>C;ENST00000540086:exon5:c.491-2A>C;ENST00000454642:exon4:c.458-2A>C)	.	.	0.999988510283643	0.936
18	64221764	A	C	18	66554527	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.974320839831533	0.698
18	64221764	A	G	18	66554527	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.44858233991198E-5	0.054
18	64221764	A	T	18	66554527	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00734585654614767	0.122
18	64221765	A	C	18	66554528	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.64436066004903E-4	0.07
18	64221765	A	G	18	66554528	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.53311421809966E-4	0.064
18	64221765	A	T	18	66554528	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.14072740378318E-4	0.06
18	64221766	A	C	18	66554529	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.750315854576446	0.412
18	64221766	A	G	18	66554529	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.06685546450709E-5	0.012
18	64221766	A	T	18	66554529	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.468322956167541	0.468
18	64221767	G	A	18	66554530	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.66066774828571E-6	0.0
18	64221767	G	C	18	66554530	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.1220422109464E-4	0.076
18	64221767	G	T	18	66554530	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.0676639297013E-4	0.1
18	64221768	A	C	18	66554531	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00652444319144865	0.178
18	64221768	A	G	18	66554531	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.9496975529328E-5	0.016
18	64221768	A	T	18	66554531	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0539866534011516	0.156
18	64221769	G	A	18	66554532	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.21369831440373E-5	0.008
18	64221769	G	C	18	66554532	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.66799493512535E-5	0.054
18	64221769	G	T	18	66554532	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.86185854100977E-5	0.076
18	64221770	A	C	18	66554533	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00125505043421799	0.244
18	64221770	A	G	18	66554533	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.26934165417084E-5	0.004
18	64221770	A	T	18	66554533	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0183546779675751	0.222
18	64221771	A	C	18	66554534	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.206240226748345	0.456
18	64221771	A	G	18	66554534	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.61972855413033E-4	0.066
18	64221771	A	T	18	66554534	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.657790114101029	0.446
18	64221772	C	A	18	66554535	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.24403260291936E-5	0.006
18	64221772	C	G	18	66554535	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.74738245482364E-5	0.002
18	64221772	C	T	18	66554535	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.66212756915445E-5	0.002
18	64221773	A	C	18	66554536	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999811765363594	0.968
18	64221773	A	G	18	66554536	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.32799092354051E-4	0.008
18	64221773	A	T	18	66554536	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999871027414477	0.948
18	64235645	T	A	18	66568408	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0056074035793448	0.004
18	64235645	T	C	18	66568408	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00358846438385446	0.002
18	64235645	T	G	18	66568408	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00358846438385446	0.002
18	64235646	G	A	18	66568409	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00151917905326355	0.026
18	64235646	G	C	18	66568409	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.4474841061264E-4	0.012
18	64235646	G	T	18	66568409	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.90959980725144E-4	0.094
18	64235647	C	A	18	66568410	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.72806076071942E-5	0.118
18	64235647	C	G	18	66568410	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.80259418764827E-4	0.182
18	64235647	C	T	18	66568410	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.21689416591377E-4	0.088
18	64235648	A	C	18	66568411	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.34375956613098E-4	0.024
18	64235648	A	G	18	66568411	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.52497094064011E-4	0.032
18	64235648	A	T	18	66568411	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.57110669100375E-4	0.014
18	64235649	A	C	18	66568412	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.2733741133179E-4	0.042
18	64235649	A	G	18	66568412	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.68343120897976E-4	0.074
18	64235649	A	T	18	66568412	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.13277093346614E-4	0.098
18	64235650	T	A	18	66568413	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999881855322938	0.928
18	64235650	T	C	18	66568413	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999781593071712	0.97
18	64235650	T	G	18	66568413	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999897342774533	0.98
18	64235651	A	C	18	66568414	y	y	splicing	CDH19(NM_021153:exon4:c.490+2T>G;NM_001271028:exon4:c.490+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.490+2T>G;ENST00000579658:exon4:c.490+2T>G;ENST00000540086:exon4:c.490+2T>G;ENST00000454642:exon3:c.457+2T>G)	.	.	0.999986741007567	0.944
18	64235651	A	G	18	66568414	y	y	splicing	CDH19(NM_021153:exon4:c.490+2T>C;NM_001271028:exon4:c.490+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.490+2T>C;ENST00000579658:exon4:c.490+2T>C;ENST00000540086:exon4:c.490+2T>C;ENST00000454642:exon3:c.457+2T>C)	.	.	0.992193430225094	0.698
18	64235651	A	T	18	66568414	y	y	splicing	CDH19(NM_021153:exon4:c.490+2T>A;NM_001271028:exon4:c.490+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.490+2T>A;ENST00000579658:exon4:c.490+2T>A;ENST00000540086:exon4:c.490+2T>A;ENST00000454642:exon3:c.457+2T>A)	.	.	0.999986741007567	0.944
18	64235652	C	A	18	66568415	y	y	splicing	CDH19(NM_021153:exon4:c.490+1G>T;NM_001271028:exon4:c.490+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.490+1G>T;ENST00000579658:exon4:c.490+1G>T;ENST00000540086:exon4:c.490+1G>T;ENST00000454642:exon3:c.457+1G>T)	.	.	0.999987670894945	0.94
18	64235652	C	G	18	66568415	y	y	splicing	CDH19(NM_021153:exon4:c.490+1G>C;NM_001271028:exon4:c.490+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.490+1G>C;ENST00000579658:exon4:c.490+1G>C;ENST00000540086:exon4:c.490+1G>C;ENST00000454642:exon3:c.457+1G>C)	.	.	0.999987670894945	0.94
18	64235652	C	T	18	66568415	y	y	splicing	CDH19(NM_021153:exon4:c.490+1G>A;NM_001271028:exon4:c.490+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.490+1G>A;ENST00000579658:exon4:c.490+1G>A;ENST00000540086:exon4:c.490+1G>A;ENST00000454642:exon3:c.457+1G>A)	.	.	0.999987670894945	0.94
18	64235653	C	A	18	66568416	y	y	exonic	CDH19	stopgain SNV	CDH19:NM_021153:exon3:c.G490T:p.G164X;CDH19:NM_001271028:exon3:c.G490T:p.G164X;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000579658:exon3:c.G490T:p.G164X;ENSG00000071991:ENST00000454642:exon2:c.G457T:p.G153X;ENSG00000071991:ENST00000262150:exon3:c.G490T:p.G164X;ENSG00000071991:ENST00000540086:exon3:c.G490T:p.G164X;	0.999995696119909	0.898
18	64235653	C	G	18	66568416	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.G490C:p.G164R;CDH19:NM_001271028:exon3:c.G490C:p.G164R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon3:c.G490C:p.G164R;ENSG00000071991:ENST00000454642:exon2:c.G457C:p.G153R;ENSG00000071991:ENST00000262150:exon3:c.G490C:p.G164R;ENSG00000071991:ENST00000540086:exon3:c.G490C:p.G164R;	0.999996690184095	0.998
18	64235653	C	T	18	66568416	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.G490A:p.G164R;CDH19:NM_001271028:exon3:c.G490A:p.G164R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon3:c.G490A:p.G164R;ENSG00000071991:ENST00000454642:exon2:c.G457A:p.G153R;ENSG00000071991:ENST00000262150:exon3:c.G490A:p.G164R;ENSG00000071991:ENST00000540086:exon3:c.G490A:p.G164R;	0.999995136148728	0.998
18	64235654	T	A	18	66568417	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.A489T:p.E163D;CDH19:NM_001271028:exon3:c.A489T:p.E163D;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon3:c.A489T:p.E163D;ENSG00000071991:ENST00000454642:exon2:c.A456T:p.E152D;ENSG00000071991:ENST00000262150:exon3:c.A489T:p.E163D;ENSG00000071991:ENST00000540086:exon3:c.A489T:p.E163D;	0.999895113073432	0.988
18	64235654	T	C	18	66568417	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon3:c.A489G:p.E163E;CDH19:NM_001271028:exon3:c.A489G:p.E163E;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000579658:exon3:c.A489G:p.E163E;ENSG00000071991:ENST00000454642:exon2:c.A456G:p.E152E;ENSG00000071991:ENST00000262150:exon3:c.A489G:p.E163E;ENSG00000071991:ENST00000540086:exon3:c.A489G:p.E163E;	0.999791858736091	1.0
18	64235654	T	G	18	66568417	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.A489C:p.E163D;CDH19:NM_001271028:exon3:c.A489C:p.E163D;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon3:c.A489C:p.E163D;ENSG00000071991:ENST00000454642:exon2:c.A456C:p.E152D;ENSG00000071991:ENST00000262150:exon3:c.A489C:p.E163D;ENSG00000071991:ENST00000540086:exon3:c.A489C:p.E163D;	0.999755076868492	0.988
18	64235655	T	A	18	66568418	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.A488T:p.E163V;CDH19:NM_001271028:exon3:c.A488T:p.E163V;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon3:c.A488T:p.E163V;ENSG00000071991:ENST00000454642:exon2:c.A455T:p.E152V;ENSG00000071991:ENST00000262150:exon3:c.A488T:p.E163V;ENSG00000071991:ENST00000540086:exon3:c.A488T:p.E163V;	0.98880819092527	0.782
18	64235655	T	C	18	66568418	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.A488G:p.E163G;CDH19:NM_001271028:exon3:c.A488G:p.E163G;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon3:c.A488G:p.E163G;ENSG00000071991:ENST00000454642:exon2:c.A455G:p.E152G;ENSG00000071991:ENST00000262150:exon3:c.A488G:p.E163G;ENSG00000071991:ENST00000540086:exon3:c.A488G:p.E163G;	0.333170149077211	0.25
18	64235655	T	G	18	66568418	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.A488C:p.E163A;CDH19:NM_001271028:exon3:c.A488C:p.E163A;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000579658:exon3:c.A488C:p.E163A;ENSG00000071991:ENST00000454642:exon2:c.A455C:p.E152A;ENSG00000071991:ENST00000262150:exon3:c.A488C:p.E163A;ENSG00000071991:ENST00000540086:exon3:c.A488C:p.E163A;	0.00928790531249317	0.036
18	64235946	A	C	18	66568709	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.T197G:p.L66R;CDH19:NM_001271028:exon3:c.T197G:p.L66R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon4:c.T197G:p.L66R;ENSG00000071991:ENST00000579658:exon3:c.T197G:p.L66R;ENSG00000071991:ENST00000454642:exon2:c.T164G:p.L55R;ENSG00000071991:ENST00000262150:exon3:c.T197G:p.L66R;ENSG00000071991:ENST00000540086:exon3:c.T197G:p.L66R;	0.0139280329095449	0.056
18	64235946	A	G	18	66568709	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.T197C:p.L66P;CDH19:NM_001271028:exon3:c.T197C:p.L66P;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon4:c.T197C:p.L66P;ENSG00000071991:ENST00000579658:exon3:c.T197C:p.L66P;ENSG00000071991:ENST00000454642:exon2:c.T164C:p.L55P;ENSG00000071991:ENST00000262150:exon3:c.T197C:p.L66P;ENSG00000071991:ENST00000540086:exon3:c.T197C:p.L66P;	0.0386811170950275	0.17
18	64235946	A	T	18	66568709	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.T197A:p.L66Q;CDH19:NM_001271028:exon3:c.T197A:p.L66Q;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon4:c.T197A:p.L66Q;ENSG00000071991:ENST00000579658:exon3:c.T197A:p.L66Q;ENSG00000071991:ENST00000454642:exon2:c.T164A:p.L55Q;ENSG00000071991:ENST00000262150:exon3:c.T197A:p.L66Q;ENSG00000071991:ENST00000540086:exon3:c.T197A:p.L66Q;	0.0625897760906598	0.158
18	64235947	G	A	18	66568710	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon3:c.C196T:p.L66L;CDH19:NM_001271028:exon3:c.C196T:p.L66L;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000580157:exon4:c.C196T:p.L66L;ENSG00000071991:ENST00000579658:exon3:c.C196T:p.L66L;ENSG00000071991:ENST00000454642:exon2:c.C163T:p.L55L;ENSG00000071991:ENST00000262150:exon3:c.C196T:p.L66L;ENSG00000071991:ENST00000540086:exon3:c.C196T:p.L66L;	6.5837275483706E-4	0.064
18	64235947	G	C	18	66568710	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.C196G:p.L66V;CDH19:NM_001271028:exon3:c.C196G:p.L66V;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon4:c.C196G:p.L66V;ENSG00000071991:ENST00000579658:exon3:c.C196G:p.L66V;ENSG00000071991:ENST00000454642:exon2:c.C163G:p.L55V;ENSG00000071991:ENST00000262150:exon3:c.C196G:p.L66V;ENSG00000071991:ENST00000540086:exon3:c.C196G:p.L66V;	5.83839027639692E-5	0.104
18	64235947	G	T	18	66568710	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon3:c.C196A:p.L66I;CDH19:NM_001271028:exon3:c.C196A:p.L66I;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon4:c.C196A:p.L66I;ENSG00000071991:ENST00000579658:exon3:c.C196A:p.L66I;ENSG00000071991:ENST00000454642:exon2:c.C163A:p.L55I;ENSG00000071991:ENST00000262150:exon3:c.C196A:p.L66I;ENSG00000071991:ENST00000540086:exon3:c.C196A:p.L66I;	4.21782206382473E-5	0.002
18	64235948	C	A	18	66568711	y	y	splicing	CDH19(NM_021153:exon4:c.196-1G>T;NM_001271028:exon4:c.196-1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.196-1G>T;ENST00000579658:exon4:c.196-1G>T;ENST00000540086:exon4:c.196-1G>T;ENST00000454642:exon3:c.163-1G>T;ENST00000580157:exon5:c.196-1G>T)	.	.	0.999989072007339	0.934
18	64235948	C	G	18	66568711	y	y	splicing	CDH19(NM_021153:exon4:c.196-1G>C;NM_001271028:exon4:c.196-1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.196-1G>C;ENST00000579658:exon4:c.196-1G>C;ENST00000540086:exon4:c.196-1G>C;ENST00000454642:exon3:c.163-1G>C;ENST00000580157:exon5:c.196-1G>C)	.	.	0.999989072007339	0.934
18	64235948	C	T	18	66568711	y	y	splicing	CDH19(NM_021153:exon4:c.196-1G>A;NM_001271028:exon4:c.196-1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.196-1G>A;ENST00000579658:exon4:c.196-1G>A;ENST00000540086:exon4:c.196-1G>A;ENST00000454642:exon3:c.163-1G>A;ENST00000580157:exon5:c.196-1G>A)	.	.	0.999989072007339	0.93
18	64235949	T	A	18	66568712	y	y	splicing	CDH19(NM_021153:exon4:c.196-2A>T;NM_001271028:exon4:c.196-2A>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.196-2A>T;ENST00000579658:exon4:c.196-2A>T;ENST00000540086:exon4:c.196-2A>T;ENST00000454642:exon3:c.163-2A>T;ENST00000580157:exon5:c.196-2A>T)	.	.	0.999988247793601	0.93
18	64235949	T	C	18	66568712	y	y	splicing	CDH19(NM_021153:exon4:c.196-2A>G;NM_001271028:exon4:c.196-2A>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.196-2A>G;ENST00000579658:exon4:c.196-2A>G;ENST00000540086:exon4:c.196-2A>G;ENST00000454642:exon3:c.163-2A>G;ENST00000580157:exon5:c.196-2A>G)	.	.	0.999988247793601	0.93
18	64235949	T	G	18	66568712	y	y	splicing	CDH19(NM_021153:exon4:c.196-2A>C;NM_001271028:exon4:c.196-2A>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon4:c.196-2A>C;ENST00000579658:exon4:c.196-2A>C;ENST00000540086:exon4:c.196-2A>C;ENST00000454642:exon3:c.163-2A>C;ENST00000580157:exon5:c.196-2A>C)	.	.	0.999988247793601	0.93
18	64235950	G	A	18	66568713	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00660478057950202	0.192
18	64235950	G	C	18	66568713	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998586321468994	0.924
18	64235950	G	T	18	66568713	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.468851120025669	0.498
18	64235951	C	A	18	66568714	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.26762107430645E-4	0.002
18	64235951	C	G	18	66568714	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.72893831105933E-5	0.004
18	64235951	C	T	18	66568714	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.16082774185242E-4	0.006
18	64235952	A	C	18	66568715	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.178381957258361	0.416
18	64235952	A	G	18	66568715	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00740358014220519	0.108
18	64235952	A	T	18	66568715	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999921224081866	0.902
18	64235953	A	C	18	66568716	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00291725767002081	0.084
18	64235953	A	G	18	66568716	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.61177341199865E-4	0.0
18	64235953	A	T	18	66568716	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0119167749035704	0.084
18	64235954	A	C	18	66568717	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.997114040777938	0.984
18	64235954	A	G	18	66568717	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.09310975989209E-5	0.0
18	64235954	A	T	18	66568717	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.17103999492163E-4	0.024
18	64235955	T	A	18	66568718	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.70820958914791E-5	0.0
18	64235955	T	C	18	66568718	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.29893657624892E-5	0.0
18	64235955	T	G	18	66568718	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.31627893621193E-5	0.002
18	64235956	G	A	18	66568719	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.77634515509458E-5	0.01
18	64235956	G	C	18	66568719	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.47613700375858E-4	0.178
18	64235956	G	T	18	66568719	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.44888191298052E-4	0.064
18	64235957	G	A	18	66568720	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.26848964498332E-5	0.0
18	64235957	G	C	18	66568720	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.64744360131346E-4	0.028
18	64235957	G	T	18	66568720	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	8.45626378008403E-4	0.08
18	64235958	A	C	18	66568721	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00266200557966332	0.186
18	64235958	A	G	18	66568721	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00101550242659532	0.094
18	64235958	A	T	18	66568721	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00941150758191875	0.242
18	64235959	A	C	18	66568722	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0289354742397281	0.328
18	64235959	A	G	18	66568722	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00200236403855761	0.078
18	64235959	A	T	18	66568722	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.0281377735402632	0.342
18	64239239	A	C	18	66572002	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.20712668425488E-4	0.028
18	64239239	A	G	18	66572002	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.4816595910341E-4	0.004
18	64239239	A	T	18	66572002	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.66616311494425E-4	0.084
18	64239240	T	A	18	66572003	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.32817365268549E-4	0.0
18	64239240	T	C	18	66572003	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.32817365268549E-4	0.0
18	64239240	T	G	18	66572003	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.80014916385417E-5	0.0
18	64239241	A	C	18	66572004	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.02999570763698E-4	0.132
18	64239241	A	G	18	66572004	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00173756437548274	0.164
18	64239241	A	T	18	66572004	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.5872105671035E-4	0.074
18	64239242	A	C	18	66572005	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.02898527680646E-5	0.088
18	64239242	A	G	18	66572005	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.63872132373266E-5	0.004
18	64239242	A	T	18	66572005	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.26670498272372E-5	0.008
18	64239243	G	A	18	66572006	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.22884946588182E-4	0.134
18	64239243	G	C	18	66572006	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.2694186998251E-4	0.112
18	64239243	G	T	18	66572006	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.88973801556092E-5	0.08
18	64239244	T	A	18	66572007	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.985446867320853	0.804
18	64239244	T	C	18	66572007	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.911997503936573	0.594
18	64239244	T	G	18	66572007	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999654847192393	0.886
18	64239245	A	C	18	66572008	y	y	splicing	CDH19(NM_021153:exon3:c.195+2T>G;NM_001271028:exon3:c.195+2T>G)	.	.	splicing	ENSG00000071991(ENST00000262150:exon3:c.195+2T>G;ENST00000579658:exon3:c.195+2T>G;ENST00000540086:exon3:c.195+2T>G;ENST00000454642:exon2:c.162+2T>G;ENST00000580157:exon4:c.195+2T>G)	.	.	0.999969255906173	0.864
18	64239245	A	G	18	66572008	y	y	splicing	CDH19(NM_021153:exon3:c.195+2T>C;NM_001271028:exon3:c.195+2T>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon3:c.195+2T>C;ENST00000579658:exon3:c.195+2T>C;ENST00000540086:exon3:c.195+2T>C;ENST00000454642:exon2:c.162+2T>C;ENST00000580157:exon4:c.195+2T>C)	.	.	0.941262618117329	0.6
18	64239245	A	T	18	66572008	y	y	splicing	CDH19(NM_021153:exon3:c.195+2T>A;NM_001271028:exon3:c.195+2T>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon3:c.195+2T>A;ENST00000579658:exon3:c.195+2T>A;ENST00000540086:exon3:c.195+2T>A;ENST00000454642:exon2:c.162+2T>A;ENST00000580157:exon4:c.195+2T>A)	.	.	0.999972155025474	0.872
18	64239246	C	A	18	66572009	y	y	splicing	CDH19(NM_021153:exon3:c.195+1G>T;NM_001271028:exon3:c.195+1G>T)	.	.	splicing	ENSG00000071991(ENST00000262150:exon3:c.195+1G>T;ENST00000579658:exon3:c.195+1G>T;ENST00000540086:exon3:c.195+1G>T;ENST00000454642:exon2:c.162+1G>T;ENST00000580157:exon4:c.195+1G>T)	.	.	0.999977162774916	0.864
18	64239246	C	G	18	66572009	y	y	splicing	CDH19(NM_021153:exon3:c.195+1G>C;NM_001271028:exon3:c.195+1G>C)	.	.	splicing	ENSG00000071991(ENST00000262150:exon3:c.195+1G>C;ENST00000579658:exon3:c.195+1G>C;ENST00000540086:exon3:c.195+1G>C;ENST00000454642:exon2:c.162+1G>C;ENST00000580157:exon4:c.195+1G>C)	.	.	0.999974785031454	0.88
18	64239246	C	T	18	66572009	y	y	splicing	CDH19(NM_021153:exon3:c.195+1G>A;NM_001271028:exon3:c.195+1G>A)	.	.	splicing	ENSG00000071991(ENST00000262150:exon3:c.195+1G>A;ENST00000579658:exon3:c.195+1G>A;ENST00000540086:exon3:c.195+1G>A;ENST00000454642:exon2:c.162+1G>A;ENST00000580157:exon4:c.195+1G>A)	.	.	0.99997775019564	0.896
18	64239247	C	A	18	66572010	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon2:c.G195T:p.Q65H;CDH19:NM_001271028:exon2:c.G195T:p.Q65H;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon3:c.G195T:p.Q65H;ENSG00000071991:ENST00000579658:exon2:c.G195T:p.Q65H;ENSG00000071991:ENST00000454642:exon1:c.G162T:p.Q54H;ENSG00000071991:ENST00000262150:exon2:c.G195T:p.Q65H;ENSG00000071991:ENST00000540086:exon2:c.G195T:p.Q65H;	0.999971146905958	0.992
18	64239247	C	G	18	66572010	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon2:c.G195C:p.Q65H;CDH19:NM_001271028:exon2:c.G195C:p.Q65H;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon3:c.G195C:p.Q65H;ENSG00000071991:ENST00000579658:exon2:c.G195C:p.Q65H;ENSG00000071991:ENST00000454642:exon1:c.G162C:p.Q54H;ENSG00000071991:ENST00000262150:exon2:c.G195C:p.Q65H;ENSG00000071991:ENST00000540086:exon2:c.G195C:p.Q65H;	0.999991485552815	0.964
18	64239247	C	T	18	66572010	y	y	exonic	CDH19	synonymous SNV	CDH19:NM_021153:exon2:c.G195A:p.Q65Q;CDH19:NM_001271028:exon2:c.G195A:p.Q65Q;	exonic	ENSG00000071991	synonymous SNV	ENSG00000071991:ENST00000580157:exon3:c.G195A:p.Q65Q;ENSG00000071991:ENST00000579658:exon2:c.G195A:p.Q65Q;ENSG00000071991:ENST00000454642:exon1:c.G162A:p.Q54Q;ENSG00000071991:ENST00000262150:exon2:c.G195A:p.Q65Q;ENSG00000071991:ENST00000540086:exon2:c.G195A:p.Q65Q;	0.999975649092619	0.988
18	64239248	T	A	18	66572011	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon2:c.A194T:p.Q65L;CDH19:NM_001271028:exon2:c.A194T:p.Q65L;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon3:c.A194T:p.Q65L;ENSG00000071991:ENST00000579658:exon2:c.A194T:p.Q65L;ENSG00000071991:ENST00000454642:exon1:c.A161T:p.Q54L;ENSG00000071991:ENST00000262150:exon2:c.A194T:p.Q65L;ENSG00000071991:ENST00000540086:exon2:c.A194T:p.Q65L;	0.594987868076897	0.38
18	64239248	T	C	18	66572011	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon2:c.A194G:p.Q65R;CDH19:NM_001271028:exon2:c.A194G:p.Q65R;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon3:c.A194G:p.Q65R;ENSG00000071991:ENST00000579658:exon2:c.A194G:p.Q65R;ENSG00000071991:ENST00000454642:exon1:c.A161G:p.Q54R;ENSG00000071991:ENST00000262150:exon2:c.A194G:p.Q65R;ENSG00000071991:ENST00000540086:exon2:c.A194G:p.Q65R;	0.29508558841086	0.358
18	64239248	T	G	18	66572011	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon2:c.A194C:p.Q65P;CDH19:NM_001271028:exon2:c.A194C:p.Q65P;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon3:c.A194C:p.Q65P;ENSG00000071991:ENST00000579658:exon2:c.A194C:p.Q65P;ENSG00000071991:ENST00000454642:exon1:c.A161C:p.Q54P;ENSG00000071991:ENST00000262150:exon2:c.A194C:p.Q65P;ENSG00000071991:ENST00000540086:exon2:c.A194C:p.Q65P;	0.351498254619757	0.392
18	64239249	G	A	18	66572012	y	y	exonic	CDH19	stopgain SNV	CDH19:NM_021153:exon2:c.C193T:p.Q65X;CDH19:NM_001271028:exon2:c.C193T:p.Q65X;	exonic	ENSG00000071991	stopgain SNV	ENSG00000071991:ENST00000580157:exon3:c.C193T:p.Q65X;ENSG00000071991:ENST00000579658:exon2:c.C193T:p.Q65X;ENSG00000071991:ENST00000454642:exon1:c.C160T:p.Q54X;ENSG00000071991:ENST00000262150:exon2:c.C193T:p.Q65X;ENSG00000071991:ENST00000540086:exon2:c.C193T:p.Q65X;	0.994278978399784	0.874
18	64239249	G	C	18	66572012	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon2:c.C193G:p.Q65E;CDH19:NM_001271028:exon2:c.C193G:p.Q65E;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon3:c.C193G:p.Q65E;ENSG00000071991:ENST00000579658:exon2:c.C193G:p.Q65E;ENSG00000071991:ENST00000454642:exon1:c.C160G:p.Q54E;ENSG00000071991:ENST00000262150:exon2:c.C193G:p.Q65E;ENSG00000071991:ENST00000540086:exon2:c.C193G:p.Q65E;	3.73685935234274E-4	0.114
18	64239249	G	T	18	66572012	y	y	exonic	CDH19	nonsynonymous SNV	CDH19:NM_021153:exon2:c.C193A:p.Q65K;CDH19:NM_001271028:exon2:c.C193A:p.Q65K;	exonic	ENSG00000071991	nonsynonymous SNV	ENSG00000071991:ENST00000580157:exon3:c.C193A:p.Q65K;ENSG00000071991:ENST00000579658:exon2:c.C193A:p.Q65K;ENSG00000071991:ENST00000454642:exon1:c.C160A:p.Q54K;ENSG00000071991:ENST00000262150:exon2:c.C193A:p.Q65K;ENSG00000071991:ENST00000540086:exon2:c.C193A:p.Q65K;	0.00106446450045982	0.094
18	64239552	A	C	18	66572315	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.53057653120585E-4	0.018
18	64239552	A	G	18	66572315	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	1.60941344956829E-4	0.054
18	64239552	A	T	18	66572315	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.02037351983697E-4	0.03
18	64239553	C	A	18	66572316	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.999320898501826	0.714
18	64239553	C	G	18	66572316	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.997994340903869	0.698
18	64239553	C	T	18	66572316	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.836217379138203	0.536
18	64239554	C	A	18	66572317	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999990123758928	0.77
18	64239554	C	G	18	66572317	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999990123758928	0.77
18	64239554	C	T	18	66572317	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999990123758928	0.77
18	64239555	T	A	18	66572318	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999940351765486	0.73
18	64239555	T	C	18	66572318	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999940351765486	0.716
18	64239555	T	G	18	66572318	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999940351765486	0.716
18	64239556	A	C	18	66572319	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.998267440522051	0.678
18	64239556	A	G	18	66572319	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.54439326515739E-4	0.038
18	64239556	A	T	18	66572319	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.31677143555729	0.55
18	64239557	A	C	18	66572320	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.03779686752954E-4	0.002
18	64239557	A	G	18	66572320	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.68746011767656E-5	0.0
18	64239557	A	T	18	66572320	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.75685746462539E-5	0.004
18	64239558	A	C	18	66572321	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.911399100582658	0.578
18	64239558	A	G	18	66572321	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00445691588607532	0.072
18	64239558	A	T	18	66572321	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.971164916137472	0.614
18	64239559	G	A	18	66572322	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.25733166049829E-5	0.006
18	64239559	G	C	18	66572322	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.00124139897289394	0.136
18	64239559	G	T	18	66572322	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.60862691228003E-4	0.126
18	64239560	C	A	18	66572323	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.57224415015791E-5	0.004
18	64239560	C	G	18	66572323	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.24194202143816E-5	0.0
18	64239560	C	T	18	66572323	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.89746632428224E-6	0.002
18	64239561	G	A	18	66572324	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.79416071060034E-5	0.0
18	64239561	G	C	18	66572324	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.989194367328147	0.604
18	64239561	G	T	18	66572324	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.989434942467113	0.616
18	64239562	T	A	18	66572325	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.78719059605586E-5	0.034
18	64239562	T	C	18	66572325	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.04413409675971E-5	0.004
18	64239562	T	G	18	66572325	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.6823270401082E-5	0.002
18	64239563	C	A	18	66572326	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.65047354028333E-5	0.0
18	64239563	C	G	18	66572326	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.2990569103521E-5	0.0
18	64239563	C	T	18	66572326	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	9.55433916700427E-5	0.0
18	64239564	A	C	18	66572327	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.145746907959566	0.54
18	64239564	A	G	18	66572327	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.25235231915042E-5	0.146
18	64239564	A	T	18	66572327	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.999590268698429	0.74
18	64239565	G	A	18	66572328	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.25343776184483E-5	0.006
18	64239565	G	C	18	66572328	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.58892436116995E-5	0.028
18	64239565	G	T	18	66572328	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.20514716549251E-5	0.018
18	64263388	G	A	18	66596151	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263388	G	C	18	66596151	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263388	G	T	18	66596151	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263389	G	A	18	66596152	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263389	G	C	18	66596152	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263389	G	T	18	66596152	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263390	A	C	18	66596153	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263390	A	G	18	66596153	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263390	A	T	18	66596153	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263391	C	A	18	66596154	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263391	C	G	18	66596154	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263391	C	T	18	66596154	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263392	A	C	18	66596155	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263392	A	G	18	66596155	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263392	A	T	18	66596155	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263393	T	A	18	66596156	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263393	T	C	18	66596156	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263393	T	G	18	66596156	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263394	A	C	18	66596157	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	8.04741149915011E-5	.
18	64263394	A	G	18	66596157	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	8.04741149915011E-5	.
18	64263394	A	T	18	66596157	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	7.94981337239322E-5	.
18	64263395	C	A	18	66596158	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263395	C	G	18	66596158	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263395	C	T	18	66596158	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	5.50570520811733E-5	.
18	64263396	C	A	18	66596159	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263396	C	G	18	66596159	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263396	C	T	18	66596159	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	4.0616401152612E-5	.
18	64263397	T	A	18	66596160	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263397	T	C	18	66596160	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263397	T	G	18	66596160	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263398	G	A	18	66596161	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	4.0616401152612E-5	.
18	64263398	G	C	18	66596161	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263398	G	T	18	66596161	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263539	T	A	18	66596302	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263539	T	C	18	66596302	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263539	T	G	18	66596302	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263540	C	A	18	66596303	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263540	C	G	18	66596303	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263540	C	T	18	66596303	n	y	intronic	CDH19	.	.	UTR5	ENSG00000071991	.	.	4.0616401152612E-5	.
18	64263541	C	A	18	66596304	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263541	C	G	18	66596304	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263541	C	T	18	66596304	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263542	T	A	18	66596305	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	8.04741149915011E-5	.
18	64263542	T	C	18	66596305	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263542	T	G	18	66596305	n	y	intronic	CDH19	.	.	splicing	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263543	A	C	18	66596306	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263543	A	G	18	66596306	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263543	A	T	18	66596306	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263544	A	C	18	66596307	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263544	A	G	18	66596307	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263544	A	T	18	66596307	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263545	C	A	18	66596308	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263545	C	G	18	66596308	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263545	C	T	18	66596308	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263546	C	A	18	66596309	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263546	C	G	18	66596309	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263546	C	T	18	66596309	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263547	A	C	18	66596310	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263547	A	G	18	66596310	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263547	A	T	18	66596310	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263548	G	A	18	66596311	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263548	G	C	18	66596311	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263548	G	T	18	66596311	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.62951115444098E-5	.
18	64263549	A	C	18	66596312	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.50570520811733E-5	.
18	64263549	A	G	18	66596312	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.50570520811733E-5	.
18	64263549	A	T	18	66596312	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.94981337239322E-5	.
18	64263550	G	A	18	66596313	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263550	G	C	18	66596313	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	4.0616401152612E-5	.
18	64263550	G	T	18	66596313	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.10250552304391E-5	.
18	64263551	A	C	18	66596314	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.50570520811733E-5	.
18	64263551	A	G	18	66596314	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.50570520811733E-5	.
18	64263551	A	T	18	66596314	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.94981337239322E-5	.
18	64263552	A	C	18	66596315	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.50570520811733E-5	.
18	64263552	A	G	18	66596315	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	5.50570520811733E-5	.
18	64263552	A	T	18	66596315	n	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	7.94981337239322E-5	.
18	64271183	A	C	18	66603946	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.62965044666173E-5	0.0
18	64271183	A	G	18	66603946	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.62965044666173E-5	0.002
18	64271183	A	T	18	66603946	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.62965044666173E-5	0.0
18	64271184	G	A	18	66603947	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.10694933230406E-5	0.0
18	64271184	G	C	18	66603947	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	2.0114363142599E-5	0.0
18	64271184	G	T	18	66603947	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	3.03736096199351E-5	0.002
18	64271185	T	A	18	66603948	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.30253971085071E-5	0.006
18	64271185	T	C	18	66603948	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	6.6233492117297E-5	0.002
18	64271185	T	G	18	66603948	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	1.75071066736933E-4	0.008
18	64271186	C	A	18	66603949	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.979989690746689	0.486
18	64271186	C	G	18	66603949	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.936024601730771	0.592
18	64271186	C	T	18	66603949	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.995128706183669	0.562
18	64271187	T	A	18	66603950	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.945068966298181	0.698
18	64271187	T	C	18	66603950	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.945847371455914	0.63
18	64271187	T	G	18	66603950	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.910398056092829	0.682
18	64271188	T	A	18	66603951	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.99735400297788	0.952
18	64271188	T	C	18	66603951	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.613325029291909	0.504
18	64271188	T	G	18	66603951	y	y	intronic	CDH19	.	.	intronic	ENSG00000071991	.	.	0.996608778750901	0.926
18	64271189	A	C	18	66603952	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999988247793601	0.928
18	64271189	A	G	18	66603952	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.986973409415639	0.656
18	64271189	A	T	18	66603952	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999988247793601	0.93
18	64271190	C	A	18	66603953	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999980428708689	0.936
18	64271190	C	G	18	66603953	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999980428708689	0.934
18	64271190	C	T	18	66603953	y	y	splicing	CDH19	.	.	splicing	ENSG00000071991	.	.	0.999989072007339	0.934
18	64271191	C	A	18	66603954	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.999472539056508	0.936
18	64271191	C	G	18	66603954	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.999941118078529	0.94
18	64271191	C	T	18	66603954	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.999787219228877	0.992
18	64271192	T	A	18	66603955	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.988520192954999	0.65
18	64271192	T	C	18	66603955	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.98119624693951	0.882
18	64271192	T	G	18	66603955	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	0.978920567683545	0.878
18	64271193	T	A	18	66603956	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	6.83613833192187E-4	0.148
18	64271193	T	C	18	66603956	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	1.07461274129336E-4	0.004
18	64271193	T	G	18	66603956	y	y	UTR5	CDH19	.	.	UTR5	ENSG00000071991	.	.	2.59300557631314E-5	0.002
18	65182728	T	A	18	67515491	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	3.28132963128227E-4	0.06
18	65182728	T	C	18	67515491	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.00127036779232909	0.03
18	65182728	T	G	18	67515491	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	9.33084335846602E-4	0.042
18	65182729	T	A	18	67515492	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.017349728210757	0.176
18	65182729	T	C	18	67515492	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	6.62821151429077E-4	0.036
18	65182729	T	G	18	67515492	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.019112122858755	0.18
18	65182730	C	A	18	67515493	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999973972703282	0.938
18	65182730	C	G	18	67515493	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999979450342578	0.922
18	65182730	C	T	18	67515493	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999974849982366	0.956
18	65182731	T	A	18	67515494	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999986196612609	0.95
18	65182731	T	C	18	67515494	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999988721507175	0.912
18	65182731	T	G	18	67515494	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999988721507175	0.912
18	65182732	G	A	18	67515495	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.00501009541429373	0.304
18	65182732	G	C	18	67515495	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.999854720925495	0.864
18	65182732	G	T	18	67515495	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.996146124268433	0.836
18	65182733	G	A	18	67515496	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	2.60200533934706E-4	0.002
18	65182733	G	C	18	67515496	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.63721047386142E-4	0.01
18	65182733	G	T	18	67515496	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	5.47784574240796E-4	0.01
18	65182734	G	A	18	67515497	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	3.16019460953818E-5	0.008
18	65182734	G	C	18	67515497	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	9.16532216586191E-4	0.13
18	65182734	G	T	18	67515497	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	5.13346749291438E-4	0.064
18	65182735	G	A	18	67515498	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.31585830147513E-4	0.018
18	65182735	G	C	18	67515498	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.00841450253927647	0.174
18	65182735	G	T	18	67515498	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.00407329560489255	0.162
18	65182736	A	C	18	67515499	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.985059135287	0.62
18	65182736	A	G	18	67515499	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	3.04827830340782E-5	0.004
18	65182736	A	T	18	67515499	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	4.86870500877998E-5	0.022
18	65182737	T	A	18	67515500	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.58645906776164E-5	0.0
18	65182737	T	C	18	67515500	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.20405403105829E-5	0.0
18	65182737	T	G	18	67515500	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.810179806791E-5	0.01
18	65182738	G	A	18	67515501	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.68956545218767E-5	0.0
18	65182738	G	C	18	67515501	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	2.96209595551891E-4	0.072
18	65182738	G	T	18	67515501	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	9.46553657697886E-5	0.038
18	65182739	G	A	18	67515502	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	6.15586783714129E-6	0.056
18	65182739	G	C	18	67515502	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	9.40069772979924E-5	0.044
18	65182739	G	T	18	67515502	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	4.82766873960627E-5	0.06
18	65182740	G	A	18	67515503	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	9.77555573793095E-6	0.0
18	65182740	G	C	18	67515503	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.30571427541018E-4	0.03
18	65182740	G	T	18	67515503	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.94358688228705E-4	0.058
18	65182741	G	A	18	67515504	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	9.54937460879521E-6	0.0
18	65182741	G	C	18	67515504	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	2.3647735488762E-4	0.082
18	65182741	G	T	18	67515504	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.24475642155677E-4	0.064
18	65183590	C	A	18	67516353	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.38603341338827E-4	0.0
18	65183590	C	G	18	67516353	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.03839229791523E-4	0.016
18	65183590	C	T	18	67516353	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	9.71088654042677E-5	0.002
18	65183591	C	A	18	67516354	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	4.99196838039782E-5	0.0
18	65183591	C	G	18	67516354	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	3.64745399314608E-5	0.008
18	65183591	C	T	18	67516354	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	5.69439264402225E-5	0.0
18	65183592	G	A	18	67516355	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	5.01798465631183E-5	0.0
18	65183592	G	C	18	67516355	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	1.39329146324724E-4	0.024
18	65183592	G	T	18	67516355	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	8.11920269493675E-5	0.036
18	65183593	C	A	18	67516356	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.979453192663205	0.648
18	65183593	C	G	18	67516356	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.794517468170348	0.564
18	65183593	C	T	18	67516356	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.969992361188934	0.702
18	65183594	T	A	18	67516357	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.80856166216776	0.574
18	65183594	T	C	18	67516357	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.816452468180489	0.484
18	65183594	T	G	18	67516357	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.5527041411564	0.528
18	65183595	T	A	18	67516358	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.996524491564431	0.74
18	65183595	T	C	18	67516358	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.0633976492129191	0.192
18	65183595	T	G	18	67516358	y	y	intronic	DSEL	.	.	intronic	ENSG00000171451	.	.	0.989790235929779	0.732
18	65183596	A	C	18	67516359	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999989614548265	0.736
18	65183596	A	G	18	67516359	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.920872985726679	0.49
18	65183596	A	T	18	67516359	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999989614548265	0.778
18	65183597	C	A	18	67516360	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999929575678921	0.768
18	65183597	C	G	18	67516360	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999941977319723	0.772
18	65183597	C	T	18	67516360	y	y	splicing	DSEL	.	.	splicing	ENSG00000171451	.	.	0.999929575678921	0.768
18	65183598	C	A	18	67516361	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.998212246350007	0.85
18	65183598	C	G	18	67516361	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.999082579899207	0.792
18	65183598	C	T	18	67516361	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.758182835034265	0.776
18	65183599	T	A	18	67516362	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.821399309335884	0.616
18	65183599	T	C	18	67516362	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.727457813158048	0.584
18	65183599	T	G	18	67516362	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	0.73258964799935	0.458
18	65183600	C	A	18	67516363	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	8.90427855215898E-5	0.0
18	65183600	C	G	18	67516363	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	2.42648515104035E-5	0.002
18	65183600	C	T	18	67516363	y	y	UTR5	DSEL	.	.	UTR5	ENSG00000171451	.	.	2.42648515104035E-5	0.0
18	66344429	G	A	18	68677192	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon16:c.C1106T:p.S369F;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon16:c.C1106T:p.S369F;	0.977451181093376	0.864
18	66344429	G	C	18	68677192	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon16:c.C1106G:p.S369C;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon16:c.C1106G:p.S369C;	0.964037402610929	0.808
18	66344429	G	T	18	68677192	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon16:c.C1106A:p.S369Y;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon16:c.C1106A:p.S369Y;	0.985059885711274	0.854
18	66344430	A	C	18	68677193	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon16:c.T1105G:p.S369A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon16:c.T1105G:p.S369A;	0.702261136574017	0.61
18	66344430	A	G	18	68677193	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon16:c.T1105C:p.S369P;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon16:c.T1105C:p.S369P;	0.796545732656586	0.584
18	66344430	A	T	18	68677193	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon16:c.T1105A:p.S369T;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon16:c.T1105A:p.S369T;	0.624660450486072	0.734
18	66344431	C	A	18	68677194	y	y	splicing	TMX3(NM_019022:exon17:c.1105-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon17:c.1105-1G>T;ENST00000564631:exon16:c.1059-1G>T)	.	.	0.999985532734767	0.938
18	66344431	C	G	18	68677194	y	y	splicing	TMX3(NM_019022:exon17:c.1105-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon17:c.1105-1G>C;ENST00000564631:exon16:c.1059-1G>C)	.	.	0.999985532734767	0.938
18	66344431	C	T	18	68677194	y	y	splicing	TMX3(NM_019022:exon17:c.1105-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon17:c.1105-1G>A;ENST00000564631:exon16:c.1059-1G>A)	.	.	0.999985532734767	0.938
18	66344432	T	A	18	68677195	y	y	splicing	TMX3(NM_019022:exon17:c.1105-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon17:c.1105-2A>T;ENST00000564631:exon16:c.1059-2A>T)	.	.	0.999988247793601	0.928
18	66344432	T	C	18	68677195	y	y	splicing	TMX3(NM_019022:exon17:c.1105-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon17:c.1105-2A>G;ENST00000564631:exon16:c.1059-2A>G)	.	.	0.999988247793601	0.928
18	66344432	T	G	18	68677195	y	y	splicing	TMX3(NM_019022:exon17:c.1105-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon17:c.1105-2A>C;ENST00000564631:exon16:c.1059-2A>C)	.	.	0.999988247793601	0.928
18	66344433	G	A	18	68677196	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0341514154049751	0.036
18	66344433	G	C	18	68677196	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999943999250766	0.972
18	66344433	G	T	18	68677196	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99418935710059	0.908
18	66344434	T	A	18	68677197	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.68044029218012E-4	0.03
18	66344434	T	C	18	68677197	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00164936218876217	0.06
18	66344434	T	G	18	68677197	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.91521411340835E-4	0.014
18	66344435	G	A	18	68677198	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0013666545349439	0.096
18	66344435	G	C	18	68677198	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.340008849448885	0.338
18	66344435	G	T	18	68677198	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.129507717648273	0.272
18	66344436	G	A	18	68677199	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.81730915344841E-4	0.138
18	66344436	G	C	18	68677199	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.01149803302046	0.188
18	66344436	G	T	18	68677199	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0120473224807552	0.184
18	66344437	A	C	18	68677200	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00358796614299568	0.068
18	66344437	A	G	18	68677200	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.02558875863412E-5	0.0
18	66344437	A	T	18	68677200	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00476413629927686	0.082
18	66344438	A	C	18	68677201	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.83037252180619E-4	0.066
18	66344438	A	G	18	68677201	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.12360228343451E-5	0.004
18	66344438	A	T	18	68677201	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.02155483358241E-4	0.038
18	66344439	A	C	18	68677202	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.62634637611489E-4	0.076
18	66344439	A	G	18	68677202	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.67756505666536E-4	0.01
18	66344439	A	T	18	68677202	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.04291347972302E-4	0.078
18	66344440	G	A	18	68677203	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.46078868258308E-5	0.002
18	66344440	G	C	18	68677203	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0028634478278725	0.088
18	66344440	G	T	18	68677203	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00201763305125982	0.056
18	66344441	A	C	18	68677204	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00739866131727149	0.198
18	66344441	A	G	18	68677204	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00116537669533801	0.076
18	66344441	A	T	18	68677204	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.024156264851627	0.266
18	66344442	G	A	18	68677205	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.14797190149157E-5	0.008
18	66344442	G	C	18	68677205	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.17415266197654E-5	0.102
18	66344442	G	T	18	68677205	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.80143198766268E-4	0.104
18	66346692	C	A	18	68679455	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.25823912325393E-4	0.004
18	66346692	C	G	18	68679455	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.534092265716E-4	0.008
18	66346692	C	T	18	68679455	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.96902141090457E-4	0.024
18	66346693	A	C	18	68679456	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00177054809262733	0.02
18	66346693	A	G	18	68679456	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00172996374310178	0.016
18	66346693	A	T	18	68679456	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00254302849335041	0.014
18	66346694	A	C	18	68679457	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.196078681423491	0.466
18	66346694	A	G	18	68679457	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.307666335594752	0.67
18	66346694	A	T	18	68679457	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.655214291712097	0.63
18	66346695	C	A	18	68679458	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99948038889701	0.834
18	66346695	C	G	18	68679458	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998468769958761	0.902
18	66346695	C	T	18	68679458	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999645563562766	0.898
18	66346696	T	A	18	68679459	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99913457260774	0.884
18	66346696	T	C	18	68679459	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.996609095708157	0.872
18	66346696	T	G	18	68679459	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998746997826931	0.904
18	66346697	T	A	18	68679460	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.995618407956818	0.868
18	66346697	T	C	18	68679460	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0147329869711827	0.276
18	66346697	T	G	18	68679460	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.993664628839959	0.926
18	66346698	A	C	18	68679461	y	y	splicing	TMX3(NM_019022:exon16:c.1104+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1104+2T>G;ENST00000564631:exon15:c.1058+2T>G)	.	.	0.999988247793601	0.928
18	66346698	A	G	18	68679461	y	y	splicing	TMX3(NM_019022:exon16:c.1104+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1104+2T>C;ENST00000564631:exon15:c.1058+2T>C)	.	.	0.98918007292081	0.65
18	66346698	A	T	18	68679461	y	y	splicing	TMX3(NM_019022:exon16:c.1104+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1104+2T>A;ENST00000564631:exon15:c.1058+2T>A)	.	.	0.999988247793601	0.93
18	66346699	C	A	18	68679462	y	y	splicing	TMX3(NM_019022:exon16:c.1104+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1104+1G>T;ENST00000564631:exon15:c.1058+1G>T)	.	.	0.999985532734767	0.936
18	66346699	C	G	18	68679462	y	y	splicing	TMX3(NM_019022:exon16:c.1104+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1104+1G>C;ENST00000564631:exon15:c.1058+1G>C)	.	.	0.999985532734767	0.936
18	66346699	C	T	18	68679462	y	y	splicing	TMX3(NM_019022:exon16:c.1104+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1104+1G>A;ENST00000564631:exon15:c.1058+1G>A)	.	.	0.999985532734767	0.938
18	66346700	C	A	18	68679463	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon15:c.G1104T:p.V368V;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1104T:p.V368V;	0.998719176569047	0.966
18	66346700	C	G	18	68679463	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon15:c.G1104C:p.V368V;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1104C:p.V368V;	0.999463118296371	0.952
18	66346700	C	T	18	68679463	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon15:c.G1104A:p.V368V;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1104A:p.V368V;	0.999706000697767	0.96
18	66346701	A	C	18	68679464	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.T1103G:p.V368G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.T1103G:p.V368G;	0.306000215677545	0.48
18	66346701	A	G	18	68679464	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.T1103C:p.V368A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.T1103C:p.V368A;	0.218278516515951	0.352
18	66346701	A	T	18	68679464	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.T1103A:p.V368E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.T1103A:p.V368E;	0.539393931147405	0.47
18	66346702	C	A	18	68679465	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.G1102T:p.V368L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1102T:p.V368L;	0.0233827645956167	0.308
18	66346702	C	G	18	68679465	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.G1102C:p.V368L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1102C:p.V368L;	0.00271773058941022	0.194
18	66346702	C	T	18	68679465	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.G1102A:p.V368M;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1102A:p.V368M;	3.6615897492554E-4	0.108
18	66346767	G	A	18	68679530	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.C1037T:p.A346V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.C1037T:p.A346V;	0.964492436544802	0.778
18	66346767	G	C	18	68679530	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.C1037G:p.A346G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.C1037G:p.A346G;	0.296995291946187	0.478
18	66346767	G	T	18	68679530	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.C1037A:p.A346D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.C1037A:p.A346D;	0.988451337246128	0.794
18	66346768	C	A	18	68679531	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.G1036T:p.A346S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1036T:p.A346S;	0.999447482199084	0.896
18	66346768	C	G	18	68679531	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.G1036C:p.A346P;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1036C:p.A346P;	0.998590898542474	0.87
18	66346768	C	T	18	68679531	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon15:c.G1036A:p.A346T;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon15:c.G1036A:p.A346T;	0.996037608258413	0.822
18	66346769	C	A	18	68679532	y	y	splicing	TMX3(NM_019022:exon16:c.1036-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1036-1G>T;ENST00000564631:exon15:c.990-1G>T)	.	.	0.999985532734767	0.936
18	66346769	C	G	18	68679532	y	y	splicing	TMX3(NM_019022:exon16:c.1036-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1036-1G>C;ENST00000564631:exon15:c.990-1G>C)	.	.	0.999985532734767	0.936
18	66346769	C	T	18	68679532	y	y	splicing	TMX3(NM_019022:exon16:c.1036-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1036-1G>A;ENST00000564631:exon15:c.990-1G>A)	.	.	0.999985532734767	0.936
18	66346770	T	A	18	68679533	y	y	splicing	TMX3(NM_019022:exon16:c.1036-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1036-2A>T;ENST00000564631:exon15:c.990-2A>T)	.	.	0.999988247793601	0.926
18	66346770	T	C	18	68679533	y	y	splicing	TMX3(NM_019022:exon16:c.1036-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1036-2A>G;ENST00000564631:exon15:c.990-2A>G)	.	.	0.999988247793601	0.926
18	66346770	T	G	18	68679533	y	y	splicing	TMX3(NM_019022:exon16:c.1036-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon16:c.1036-2A>C;ENST00000564631:exon15:c.990-2A>C)	.	.	0.999988247793601	0.926
18	66346771	T	A	18	68679534	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.62456920921519E-4	0.024
18	66346771	T	C	18	68679534	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0822062990315927	0.216
18	66346771	T	G	18	68679534	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.78299930942716E-4	0.054
18	66346772	C	A	18	68679535	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.71514358630813E-5	0.004
18	66346772	C	G	18	68679535	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.74447229399209E-5	0.006
18	66346772	C	T	18	68679535	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.28798218555067E-5	0.006
18	66346773	A	C	18	68679536	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0148865567221541	0.232
18	66346773	A	G	18	68679536	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.34352877771294E-4	0.02
18	66346773	A	T	18	68679536	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998837697411728	0.862
18	66346774	A	C	18	68679537	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00640534558849102	0.134
18	66346774	A	G	18	68679537	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.39736196423286E-4	0.01
18	66346774	A	T	18	68679537	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0138617053264449	0.136
18	66346775	A	C	18	68679538	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.39812000750748E-4	0.012
18	66346775	A	G	18	68679538	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.79081507200618E-5	0.0
18	66346775	A	T	18	68679538	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.59150966270648E-4	0.01
18	66346776	A	C	18	68679539	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.13224653050234E-5	0.014
18	66346776	A	G	18	68679539	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.22920720907526E-5	0.0
18	66346776	A	T	18	68679539	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.05143061197954E-4	0.01
18	66346777	A	C	18	68679540	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.274675648623E-4	0.148
18	66346777	A	G	18	68679540	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.18625312879905E-5	0.008
18	66346777	A	T	18	68679540	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.21496293639876E-4	0.11
18	66346778	A	C	18	68679541	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.57006867659556E-4	0.254
18	66346778	A	G	18	68679541	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.98432805660358E-4	0.01
18	66346778	A	T	18	68679541	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00148849302219994	0.184
18	66346779	G	A	18	68679542	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.00518301469918E-5	0.002
18	66346779	G	C	18	68679542	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.04276282833016E-5	0.004
18	66346779	G	T	18	68679542	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.12631787866039E-5	0.002
18	66346780	G	A	18	68679543	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.49514942825076E-5	0.008
18	66346780	G	C	18	68679543	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.73516160998504E-5	0.008
18	66346780	G	T	18	68679543	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.02935402897534E-5	0.0
18	66348210	C	A	18	68680973	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.90028566392549E-5	0.0
18	66348210	C	G	18	68680973	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.13879224812485E-5	0.0
18	66348210	C	T	18	68680973	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.13879224812485E-5	0.0
18	66348211	A	C	18	68680974	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.18442783638343E-5	0.0
18	66348211	A	G	18	68680974	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.18442783638343E-5	0.0
18	66348211	A	T	18	68680974	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.18442783638343E-5	0.0
18	66348212	A	C	18	68680975	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.621384640467238	0.56
18	66348212	A	G	18	68680975	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.722324561011576	0.592
18	66348212	A	T	18	68680975	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.919280397714697	0.596
18	66348213	C	A	18	68680976	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999923916730871	0.9
18	66348213	C	G	18	68680976	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99978299119346	0.842
18	66348213	C	T	18	68680976	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999420463866454	0.882
18	66348214	T	A	18	68680977	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.198155727406097	0.354
18	66348214	T	C	18	68680977	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.246721467818735	0.416
18	66348214	T	G	18	68680977	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0872441362659554	0.358
18	66348215	T	A	18	68680978	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.993264303301166	0.716
18	66348215	T	C	18	68680978	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0136857642903435	0.206
18	66348215	T	G	18	68680978	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999538454981735	0.812
18	66348216	A	C	18	68680979	y	y	splicing	TMX3(NM_019022:exon15:c.1035+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.1035+2T>G;ENST00000564631:exon14:c.989+2T>G)	.	.	0.999955107838025	0.924
18	66348216	A	G	18	68680979	y	y	splicing	TMX3(NM_019022:exon15:c.1035+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.1035+2T>C;ENST00000564631:exon14:c.989+2T>C)	.	.	0.98842850373958	0.618
18	66348216	A	T	18	68680979	y	y	splicing	TMX3(NM_019022:exon15:c.1035+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.1035+2T>A;ENST00000564631:exon14:c.989+2T>A)	.	.	0.999955107838025	0.92
18	66348217	C	A	18	68680980	y	y	splicing	TMX3(NM_019022:exon15:c.1035+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.1035+1G>T;ENST00000564631:exon14:c.989+1G>T)	.	.	0.999990361384395	0.936
18	66348217	C	G	18	68680980	y	y	splicing	TMX3(NM_019022:exon15:c.1035+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.1035+1G>C;ENST00000564631:exon14:c.989+1G>C)	.	.	0.999990361384395	0.936
18	66348217	C	T	18	68680980	y	y	splicing	TMX3(NM_019022:exon15:c.1035+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.1035+1G>A;ENST00000564631:exon14:c.989+1G>A)	.	.	0.999990361384395	0.936
18	66348218	T	A	18	68680981	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.A1035T:p.E345D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.A1035T:p.E345D;	1.02545944283608E-4	0.042
18	66348218	T	C	18	68680981	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon14:c.A1035G:p.E345E;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.A1035G:p.E345E;	3.53630564193996E-5	0.03
18	66348218	T	G	18	68680981	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.A1035C:p.E345D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.A1035C:p.E345D;	3.95577557297672E-4	0.034
18	66348219	T	A	18	68680982	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.A1034T:p.E345V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.A1034T:p.E345V;	0.666135247922807	0.578
18	66348219	T	C	18	68680982	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.A1034G:p.E345G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.A1034G:p.E345G;	0.228390106027799	0.422
18	66348219	T	G	18	68680982	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.A1034C:p.E345A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.A1034C:p.E345A;	0.13049829160366	0.498
18	66348220	C	A	18	68680983	y	y	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon14:c.G1033T:p.E345X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000299608:exon14:c.G1033T:p.E345X;	0.00181233880691319	0.422
18	66348220	C	G	18	68680983	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.G1033C:p.E345Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.G1033C:p.E345Q;	9.1223081618803E-5	0.008
18	66348220	C	T	18	68680983	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.G1033A:p.E345K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.G1033A:p.E345K;	3.68311919265206E-4	0.008
18	66348346	C	A	18	68681109	y	y	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon14:c.G907T:p.E303X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000299608:exon14:c.G907T:p.E303X;	0.98628329272932	0.896
18	66348346	C	G	18	68681109	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.G907C:p.E303Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.G907C:p.E303Q;	0.98967731870059	0.832
18	66348346	C	T	18	68681109	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.G907A:p.E303K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.G907A:p.E303K;	0.984473715964619	0.706
18	66348347	A	C	18	68681110	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.T906G:p.D302E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.T906G:p.D302E;	2.69562165834803E-4	0.152
18	66348347	A	G	18	68681110	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon14:c.T906C:p.D302D;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.T906C:p.D302D;	5.5472294577378E-5	0.014
18	66348347	A	T	18	68681110	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon14:c.T906A:p.D302E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon14:c.T906A:p.D302E;	9.66007449205527E-5	0.026
18	66348348	C	A	18	68681111	y	y	splicing	TMX3(NM_019022:exon15:c.906-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.906-1G>T;ENST00000564631:exon14:c.860-1G>T)	.	.	0.999983677848485	0.944
18	66348348	C	G	18	68681111	y	y	splicing	TMX3(NM_019022:exon15:c.906-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.906-1G>C;ENST00000564631:exon14:c.860-1G>C)	.	.	0.999983677848485	0.944
18	66348348	C	T	18	68681111	y	y	splicing	TMX3(NM_019022:exon15:c.906-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.906-1G>A;ENST00000564631:exon14:c.860-1G>A)	.	.	0.999983677848485	0.944
18	66348349	T	A	18	68681112	y	y	splicing	TMX3(NM_019022:exon15:c.906-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.906-2A>T;ENST00000564631:exon14:c.860-2A>T)	.	.	0.999986741007567	0.946
18	66348349	T	C	18	68681112	y	y	splicing	TMX3(NM_019022:exon15:c.906-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.906-2A>G;ENST00000564631:exon14:c.860-2A>G)	.	.	0.999986741007567	0.946
18	66348349	T	G	18	68681112	y	y	splicing	TMX3(NM_019022:exon15:c.906-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon15:c.906-2A>C;ENST00000564631:exon14:c.860-2A>C)	.	.	0.999986741007567	0.946
18	66348350	G	A	18	68681113	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.84641610704357E-4	0.072
18	66348350	G	C	18	68681113	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99975947911944	0.826
18	66348350	G	T	18	68681113	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.851643358185463	0.536
18	66348351	A	C	18	68681114	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.00461079385075E-4	0.01
18	66348351	A	G	18	68681114	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.55548697697745E-4	0.026
18	66348351	A	T	18	68681114	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.73401507382431E-4	0.032
18	66348352	A	C	18	68681115	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.753608783016555	0.362
18	66348352	A	G	18	68681115	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.10331729883084E-4	0.132
18	66348352	A	T	18	68681115	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.185408975338547	0.362
18	66348353	A	C	18	68681116	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.900659426185967	0.57
18	66348353	A	G	18	68681116	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00296722222577333	0.072
18	66348353	A	T	18	68681116	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.872331091334725	0.62
18	66348354	A	C	18	68681117	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999867734366181	0.998
18	66348354	A	G	18	68681117	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.27763072840825E-4	0.112
18	66348354	A	T	18	68681117	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.010806461147532	0.234
18	66348355	T	A	18	68681118	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.38432094915247E-5	0.036
18	66348355	T	C	18	68681118	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.60813776386158E-5	0.056
18	66348355	T	G	18	68681118	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.34136183459691E-5	0.05
18	66348356	A	C	18	68681119	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999978183962606	0.966
18	66348356	A	G	18	68681119	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.7588020335519E-4	0.102
18	66348356	A	T	18	68681119	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.785202507054119	0.532
18	66348357	T	A	18	68681120	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.36265175334906E-5	0.184
18	66348357	T	C	18	68681120	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.02691022013832E-5	0.114
18	66348357	T	G	18	68681120	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.73733128725774E-5	0.142
18	66348358	A	C	18	68681121	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.987755852812714	0.686
18	66348358	A	G	18	68681121	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0178766996914066	0.262
18	66348358	A	T	18	68681121	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.993440191861337	0.752
18	66348359	A	C	18	68681122	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.964074160916865	0.724
18	66348359	A	G	18	68681122	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0226578627120012	0.204
18	66348359	A	T	18	68681122	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.971769265198719	0.758
18	66350154	T	A	18	68682917	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.69445753008254E-4	0.006
18	66350154	T	C	18	68682917	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.62078783805896E-4	0.008
18	66350154	T	G	18	68682917	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.62078783805896E-4	0.008
18	66350155	T	A	18	68682918	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0180948210845158	0.072
18	66350155	T	C	18	68682918	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00908067030790134	0.128
18	66350155	T	G	18	68682918	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00580631495246096	0.11
18	66350156	A	C	18	68682919	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998874444937635	0.922
18	66350156	A	G	18	68682919	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998093658483277	0.948
18	66350156	A	T	18	68682919	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999675057139168	0.812
18	66350157	C	A	18	68682920	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999981550840719	0.978
18	66350157	C	G	18	68682920	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999965845723167	0.992
18	66350157	C	T	18	68682920	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99998047624506	0.996
18	66350158	T	A	18	68682921	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999585910134098	0.96
18	66350158	T	C	18	68682921	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999217905716698	0.896
18	66350158	T	G	18	68682921	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999601666615185	0.914
18	66350159	T	A	18	68682922	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999853414507966	0.948
18	66350159	T	C	18	68682922	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.594369152696909	0.572
18	66350159	T	G	18	68682922	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999872629758781	0.93
18	66350160	A	C	18	68682923	y	y	splicing	TMX3(NM_019022:exon14:c.905+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.905+2T>G;ENST00000564631:exon13:c.859+2T>G)	.	.	0.999988247793601	0.928
18	66350160	A	G	18	68682923	y	y	splicing	TMX3(NM_019022:exon14:c.905+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.905+2T>C;ENST00000564631:exon13:c.859+2T>C)	.	.	0.99340600729494	0.656
18	66350160	A	T	18	68682923	y	y	splicing	TMX3(NM_019022:exon14:c.905+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.905+2T>A;ENST00000564631:exon13:c.859+2T>A)	.	.	0.999988247793601	0.928
18	66350161	C	A	18	68682924	y	y	splicing	TMX3(NM_019022:exon14:c.905+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.905+1G>T;ENST00000564631:exon13:c.859+1G>T)	.	.	0.999985532734767	0.938
18	66350161	C	G	18	68682924	y	y	splicing	TMX3(NM_019022:exon14:c.905+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.905+1G>C;ENST00000564631:exon13:c.859+1G>C)	.	.	0.999985532734767	0.938
18	66350161	C	T	18	68682924	y	y	splicing	TMX3(NM_019022:exon14:c.905+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.905+1G>A;ENST00000564631:exon13:c.859+1G>A)	.	.	0.999985532734767	0.938
18	66350162	T	A	18	68682925	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.A905T:p.D302V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.A905T:p.D302V;	0.584717700436345	0.678
18	66350162	T	C	18	68682925	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.A905G:p.D302G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.A905G:p.D302G;	5.36716482697142E-4	0.034
18	66350162	T	G	18	68682925	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.A905C:p.D302A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.A905C:p.D302A;	0.618506463480766	0.754
18	66350163	C	A	18	68682926	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G904T:p.D302Y;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G904T:p.D302Y;	0.989608189266738	0.854
18	66350163	C	G	18	68682926	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G904C:p.D302H;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G904C:p.D302H;	0.987951185734059	0.868
18	66350163	C	T	18	68682926	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G904A:p.D302N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G904A:p.D302N;	0.94290381496277	0.578
18	66350164	C	A	18	68682927	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G903T:p.M301I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G903T:p.M301I;	0.992086676088548	0.898
18	66350164	C	G	18	68682927	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G903C:p.M301I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G903C:p.M301I;	0.948131495709646	0.778
18	66350164	C	T	18	68682927	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G903A:p.M301I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G903A:p.M301I;	0.962706278209484	0.816
18	66350217	C	A	18	68682980	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G850T:p.D284Y;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G850T:p.D284Y;	0.982792984043174	0.886
18	66350217	C	G	18	68682980	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G850C:p.D284H;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G850C:p.D284H;	0.0888377982675345	0.322
18	66350217	C	T	18	68682980	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G850A:p.D284N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G850A:p.D284N;	0.542123970258961	0.53
18	66350218	C	A	18	68682981	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G849T:p.R283S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G849T:p.R283S;	0.888775294895536	0.622
18	66350218	C	G	18	68682981	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon13:c.G849C:p.R283S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G849C:p.R283S;	0.62363834172805	0.552
18	66350218	C	T	18	68682981	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon13:c.G849A:p.R283R;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon13:c.G849A:p.R283R;	0.0842185127087184	0.326
18	66350219	C	A	18	68682982	y	y	splicing	TMX3(NM_019022:exon14:c.849-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.849-1G>T;ENST00000564631:exon13:c.803-1G>T)	.	.	0.999977204999765	0.894
18	66350219	C	G	18	68682982	y	y	splicing	TMX3(NM_019022:exon14:c.849-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.849-1G>C;ENST00000564631:exon13:c.803-1G>C)	.	.	0.999977204999765	0.89
18	66350219	C	T	18	68682982	y	y	splicing	TMX3(NM_019022:exon14:c.849-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.849-1G>A;ENST00000564631:exon13:c.803-1G>A)	.	.	0.999977204999765	0.894
18	66350220	T	A	18	68682983	y	y	splicing	TMX3(NM_019022:exon14:c.849-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.849-2A>T;ENST00000564631:exon13:c.803-2A>T)	.	.	0.999915479061285	0.876
18	66350220	T	C	18	68682983	y	y	splicing	TMX3(NM_019022:exon14:c.849-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.849-2A>G;ENST00000564631:exon13:c.803-2A>G)	.	.	0.999905345038931	0.864
18	66350220	T	G	18	68682983	y	y	splicing	TMX3(NM_019022:exon14:c.849-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon14:c.849-2A>C;ENST00000564631:exon13:c.803-2A>C)	.	.	0.999905345038931	0.866
18	66350221	A	C	18	68682984	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.762742487860941	0.576
18	66350221	A	G	18	68682984	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.17897683843796E-5	0.042
18	66350221	A	T	18	68682984	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.38289975776567	0.448
18	66350222	A	C	18	68682985	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.44361178141949E-4	0.038
18	66350222	A	G	18	68682985	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.51581785876293E-4	0.028
18	66350222	A	T	18	68682985	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.07657490732245E-4	0.018
18	66350223	C	A	18	68682986	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.19888029072431E-4	0.016
18	66350223	C	G	18	68682986	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.36780356238263E-5	0.01
18	66350223	C	T	18	68682986	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.08871330930799E-4	0.008
18	66350224	C	A	18	68682987	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.00684534904205E-5	0.036
18	66350224	C	G	18	68682987	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.8571960297898E-5	0.022
18	66350224	C	T	18	68682987	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.976886039635936	0.944
18	66350225	A	C	18	68682988	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00536544839075772	0.32
18	66350225	A	G	18	68682988	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.41520454529998E-4	0.012
18	66350225	A	T	18	68682988	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999110221572108	0.984
18	66350226	C	A	18	68682989	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.5552250950639E-5	0.032
18	66350226	C	G	18	68682989	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.00143593650855E-5	0.002
18	66350226	C	T	18	68682989	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00113937389606992	0.032
18	66350227	C	A	18	68682990	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.30846113858469E-4	0.082
18	66350227	C	G	18	68682990	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.11743655489632E-4	0.046
18	66350227	C	T	18	68682990	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998860534451216	0.964
18	66350228	A	C	18	68682991	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0196117915778452	0.394
18	66350228	A	G	18	68682991	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.2092418997739E-4	0.06
18	66350228	A	T	18	68682991	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.935728895302939	0.848
18	66350229	C	A	18	68682992	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.57192058599619E-5	0.032
18	66350229	C	G	18	68682992	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.52281673572952E-5	0.03
18	66350229	C	T	18	68682992	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.1614617879422E-4	0.084
18	66350230	C	A	18	68682993	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.49499312767045E-5	0.034
18	66350230	C	G	18	68682993	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.19236992707615E-5	0.02
18	66350230	C	T	18	68682993	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.916172966253231	0.664
18	66351419	G	A	18	68684182	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.67161932166157E-4	0.0
18	66351419	G	C	18	68684182	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.10201957927584E-4	0.002
18	66351419	G	T	18	68684182	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.67161932166157E-4	0.0
18	66351420	C	A	18	68684183	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00214202408608245	0.056
18	66351420	C	G	18	68684183	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00215517722100529	0.036
18	66351420	C	T	18	68684183	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00215517722100529	0.036
18	66351421	A	C	18	68684184	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.528075506664067	0.412
18	66351421	A	G	18	68684184	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.187905717032715	0.294
18	66351421	A	T	18	68684184	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.70789477433042	0.462
18	66351422	C	A	18	68684185	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.995548007551138	0.842
18	66351422	C	G	18	68684185	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999073911381005	0.992
18	66351422	C	T	18	68684185	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998405430980619	0.906
18	66351423	C	A	18	68684186	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0010997332631029	0.024
18	66351423	C	G	18	68684186	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.7047923546163E-4	0.1
18	66351423	C	T	18	68684186	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.02958915496235E-4	0.044
18	66351424	T	A	18	68684187	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.992349336783237	0.858
18	66351424	T	C	18	68684187	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.828274326342212	0.736
18	66351424	T	G	18	68684187	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.995964024996156	0.826
18	66351425	A	C	18	68684188	y	y	splicing	TMX3(NM_019022:exon13:c.848+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.848+2T>G;ENST00000564631:exon12:c.802+2T>G)	.	.	0.999989917668626	0.926
18	66351425	A	G	18	68684188	y	y	splicing	TMX3(NM_019022:exon13:c.848+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.848+2T>C;ENST00000564631:exon12:c.802+2T>C)	.	.	0.98775897946918	0.608
18	66351425	A	T	18	68684188	y	y	splicing	TMX3(NM_019022:exon13:c.848+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.848+2T>A;ENST00000564631:exon12:c.802+2T>A)	.	.	0.999989917668626	0.926
18	66351426	C	A	18	68684189	y	y	splicing	TMX3(NM_019022:exon13:c.848+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.848+1G>T;ENST00000564631:exon12:c.802+1G>T)	.	.	0.999981760802075	0.938
18	66351426	C	G	18	68684189	y	y	splicing	TMX3(NM_019022:exon13:c.848+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.848+1G>C;ENST00000564631:exon12:c.802+1G>C)	.	.	0.999981760802075	0.938
18	66351426	C	T	18	68684189	y	y	splicing	TMX3(NM_019022:exon13:c.848+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.848+1G>A;ENST00000564631:exon12:c.802+1G>A)	.	.	0.999981760802075	0.938
18	66351427	C	A	18	68684190	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.G848T:p.R283M;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.G848T:p.R283M;	0.999985917453018	1.0
18	66351427	C	G	18	68684190	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.G848C:p.R283T;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.G848C:p.R283T;	0.999995687653638	0.988
18	66351427	C	T	18	68684190	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.G848A:p.R283K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.G848A:p.R283K;	0.99997952954238	0.998
18	66351428	T	A	18	68684191	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.A847T:p.R283W;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.A847T:p.R283W;	0.998099268039249	0.946
18	66351428	T	C	18	68684191	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.A847G:p.R283G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.A847G:p.R283G;	0.997640805801137	0.972
18	66351428	T	G	18	68684191	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon12:c.A847C:p.R283R;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.A847C:p.R283R;	0.983867857979553	0.908
18	66351429	A	C	18	68684192	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.T846G:p.H282Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.T846G:p.H282Q;	6.49447984593326E-6	0.102
18	66351429	A	G	18	68684192	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon12:c.T846C:p.H282H;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.T846C:p.H282H;	2.92532929313121E-5	0.084
18	66351429	A	T	18	68684192	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.T846A:p.H282Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.T846A:p.H282Q;	2.7936787253864E-6	0.068
18	66351479	A	C	18	68684242	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.T796G:p.L266V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.T796G:p.L266V;	0.0149108040253415	0.11
18	66351479	A	G	18	68684242	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon12:c.T796C:p.L266L;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.T796C:p.L266L;	0.0238088803715818	0.208
18	66351479	A	T	18	68684242	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.T796A:p.L266M;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.T796A:p.L266M;	0.102968011228872	0.332
18	66351480	T	A	18	68684243	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.A795T:p.R265S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.A795T:p.R265S;	0.00834469719806788	0.148
18	66351480	T	C	18	68684243	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon12:c.A795G:p.R265R;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.A795G:p.R265R;	0.00115280340808124	0.076
18	66351480	T	G	18	68684243	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon12:c.A795C:p.R265S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon12:c.A795C:p.R265S;	0.00672533664974726	0.164
18	66351481	C	A	18	68684244	y	y	splicing	TMX3(NM_019022:exon13:c.795-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.795-1G>T;ENST00000564631:exon12:c.749-1G>T)	.	.	0.999981760802075	0.936
18	66351481	C	G	18	68684244	y	y	splicing	TMX3(NM_019022:exon13:c.795-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.795-1G>C;ENST00000564631:exon12:c.749-1G>C)	.	.	0.999981760802075	0.936
18	66351481	C	T	18	68684244	y	y	splicing	TMX3(NM_019022:exon13:c.795-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.795-1G>A;ENST00000564631:exon12:c.749-1G>A)	.	.	0.999981760802075	0.936
18	66351482	T	A	18	68684245	y	y	splicing	TMX3(NM_019022:exon13:c.795-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.795-2A>T;ENST00000564631:exon12:c.749-2A>T)	.	.	0.999989917668626	0.926
18	66351482	T	C	18	68684245	y	y	splicing	TMX3(NM_019022:exon13:c.795-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.795-2A>G;ENST00000564631:exon12:c.749-2A>G)	.	.	0.999989917668626	0.926
18	66351482	T	G	18	68684245	y	y	splicing	TMX3(NM_019022:exon13:c.795-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon13:c.795-2A>C;ENST00000564631:exon12:c.749-2A>C)	.	.	0.999989917668626	0.926
18	66351483	G	A	18	68684246	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00293376653160426	0.066
18	66351483	G	C	18	68684246	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999863539674726	0.946
18	66351483	G	T	18	68684246	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.813911669706157	0.526
18	66351484	T	A	18	68684247	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.41989263439882E-4	0.016
18	66351484	T	C	18	68684247	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.50818138495385E-5	0.008
18	66351484	T	G	18	68684247	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.37161665871756E-5	0.006
18	66351485	A	C	18	68684248	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.6765311875523E-4	0.094
18	66351485	A	G	18	68684248	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.20032555751578E-5	0.004
18	66351485	A	T	18	68684248	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.37301790345161E-4	0.08
18	66351486	G	A	18	68684249	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.48394492381227E-5	0.006
18	66351486	G	C	18	68684249	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.15776695644641E-4	0.104
18	66351486	G	T	18	68684249	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.76873146167734E-4	0.132
18	66351487	A	C	18	68684250	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.11617632671011E-4	0.076
18	66351487	A	G	18	68684250	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.79685117465353E-5	0.018
18	66351487	A	T	18	68684250	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00296786609206576	0.094
18	66351488	A	C	18	68684251	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.72730968785273E-4	0.042
18	66351488	A	G	18	68684251	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.26212219579273E-4	0.006
18	66351488	A	T	18	68684251	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.24645672647244E-4	0.028
18	66351489	G	A	18	68684252	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.84327580888002E-6	0.036
18	66351489	G	C	18	68684252	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.75074121829424E-4	0.058
18	66351489	G	T	18	68684252	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.87959373810065E-4	0.062
18	66351490	A	C	18	68684253	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0031530044877433	0.17
18	66351490	A	G	18	68684253	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00175923350301861	0.062
18	66351490	A	T	18	68684253	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0173978333942922	0.252
18	66351491	A	C	18	68684254	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.481189434609013	0.524
18	66351491	A	G	18	68684254	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.301588761699253	0.384
18	66351491	A	T	18	68684254	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.652447154915809	0.606
18	66351492	C	A	18	68684255	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.56871301556509E-5	0.0
18	66351492	C	G	18	68684255	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.80484863338614E-5	0.002
18	66351492	C	T	18	68684255	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.97089879919552E-5	0.002
18	66351657	C	A	18	68684420	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.33351451163592E-4	0.016
18	66351657	C	G	18	68684420	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.02924822201345E-4	0.014
18	66351657	C	T	18	68684420	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.11082006178381E-4	0.046
18	66351658	A	C	18	68684421	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00101214193093769	0.004
18	66351658	A	G	18	68684421	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00111593692973128	0.004
18	66351658	A	T	18	68684421	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.32134825298437E-4	0.008
18	66351659	T	A	18	68684422	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.07977686043062E-4	0.298
18	66351659	T	C	18	68684422	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.13796008726219E-5	0.07
18	66351659	T	G	18	68684422	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0021342370651435	0.198
18	66351660	T	A	18	68684423	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0031532191795481	0.232
18	66351660	T	C	18	68684423	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.64592929731734E-4	0.106
18	66351660	T	G	18	68684423	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00132799409994711	0.144
18	66351661	A	C	18	68684424	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.16780404991001E-4	0.01
18	66351661	A	G	18	68684424	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00271548014420375	0.118
18	66351661	A	T	18	68684424	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.18897775777461E-4	0.09
18	66351662	T	A	18	68684425	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999947055265753	0.926
18	66351662	T	C	18	68684425	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99993952858608	0.968
18	66351662	T	G	18	68684425	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999964777138494	0.992
18	66351663	A	C	18	68684426	y	y	splicing	TMX3(NM_019022:exon12:c.794+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.794+2T>G;ENST00000564631:exon11:c.748+2T>G)	.	.	0.999989917668626	0.948
18	66351663	A	G	18	68684426	y	y	splicing	TMX3(NM_019022:exon12:c.794+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.794+2T>C;ENST00000564631:exon11:c.748+2T>C)	.	.	0.992323021482646	0.688
18	66351663	A	T	18	68684426	y	y	splicing	TMX3(NM_019022:exon12:c.794+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.794+2T>A;ENST00000564631:exon11:c.748+2T>A)	.	.	0.999989917668626	0.948
18	66351664	C	A	18	68684427	y	y	splicing	TMX3(NM_019022:exon12:c.794+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.794+1G>T;ENST00000564631:exon11:c.748+1G>T)	.	.	0.999981760802075	0.956
18	66351664	C	G	18	68684427	y	y	splicing	TMX3(NM_019022:exon12:c.794+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.794+1G>C;ENST00000564631:exon11:c.748+1G>C)	.	.	0.999981760802075	0.956
18	66351664	C	T	18	68684427	y	y	splicing	TMX3(NM_019022:exon12:c.794+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.794+1G>A;ENST00000564631:exon11:c.748+1G>A)	.	.	0.999981760802075	0.956
18	66351665	C	A	18	68684428	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon11:c.G794T:p.R265I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.G794T:p.R265I;	0.999989845216487	1.0
18	66351665	C	G	18	68684428	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon11:c.G794C:p.R265T;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.G794C:p.R265T;	0.99999675263713	1.0
18	66351665	C	T	18	68684428	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon11:c.G794A:p.R265K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.G794A:p.R265K;	0.999987322307821	1.0
18	66351666	T	A	18	68684429	y	y	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon11:c.A793T:p.R265X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000299608:exon11:c.A793T:p.R265X;	0.99997424485762	0.99
18	66351666	T	C	18	68684429	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon11:c.A793G:p.R265G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.A793G:p.R265G;	0.999939816351558	0.998
18	66351666	T	G	18	68684429	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon11:c.A793C:p.R265R;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.A793C:p.R265R;	0.999551524191865	0.998
18	66351667	G	A	18	68684430	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon11:c.C792T:p.T264T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.C792T:p.T264T;	0.993977744544048	0.862
18	66351667	G	C	18	68684430	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon11:c.C792G:p.T264T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.C792G:p.T264T;	0.0200234062429656	0.186
18	66351667	G	T	18	68684430	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon11:c.C792A:p.T264T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.C792A:p.T264T;	0.00140979521348554	0.052
18	66351721	T	A	18	68684484	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon11:c.A738T:p.G246G;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.A738T:p.G246G;	0.00303331778108582	0.102
18	66351721	T	C	18	68684484	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon11:c.A738G:p.G246G;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.A738G:p.G246G;	0.00485191599360613	0.148
18	66351721	T	G	18	68684484	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon11:c.A738C:p.G246G;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.A738C:p.G246G;	0.0155197982430036	0.164
18	66351722	C	A	18	68684485	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon11:c.G737T:p.G246V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.G737T:p.G246V;	0.999524886713809	0.984
18	66351722	C	G	18	68684485	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon11:c.G737C:p.G246A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.G737C:p.G246A;	0.9993992136908	0.982
18	66351722	C	T	18	68684485	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon11:c.G737A:p.G246E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon11:c.G737A:p.G246E;	0.998064473661075	0.892
18	66351723	C	A	18	68684486	y	y	splicing	TMX3(NM_019022:exon12:c.737-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.737-1G>T;ENST00000564631:exon11:c.691-1G>T)	.	.	0.999981760802075	0.944
18	66351723	C	G	18	68684486	y	y	splicing	TMX3(NM_019022:exon12:c.737-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.737-1G>C;ENST00000564631:exon11:c.691-1G>C)	.	.	0.999981760802075	0.944
18	66351723	C	T	18	68684486	y	y	splicing	TMX3(NM_019022:exon12:c.737-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.737-1G>A;ENST00000564631:exon11:c.691-1G>A)	.	.	0.999981760802075	0.944
18	66351724	T	A	18	68684487	y	y	splicing	TMX3(NM_019022:exon12:c.737-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.737-2A>T;ENST00000564631:exon11:c.691-2A>T)	.	.	0.999989917668626	0.928
18	66351724	T	C	18	68684487	y	y	splicing	TMX3(NM_019022:exon12:c.737-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.737-2A>G;ENST00000564631:exon11:c.691-2A>G)	.	.	0.999989917668626	0.928
18	66351724	T	G	18	68684487	y	y	splicing	TMX3(NM_019022:exon12:c.737-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon12:c.737-2A>C;ENST00000564631:exon11:c.691-2A>C)	.	.	0.999989917668626	0.928
18	66351725	G	A	18	68684488	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0529939893163927	0.104
18	66351725	G	C	18	68684488	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99288299049581	0.772
18	66351725	G	T	18	68684488	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.968704811706038	0.704
18	66351726	A	C	18	68684489	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0974967086060012	0.28
18	66351726	A	G	18	68684489	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0211538536738506	0.25
18	66351726	A	T	18	68684489	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.281402077052283	0.39
18	66351727	A	C	18	68684490	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.994744257682678	0.898
18	66351727	A	G	18	68684490	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.108667740935986	0.354
18	66351727	A	T	18	68684490	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.9953906469129	0.89
18	66351728	A	C	18	68684491	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999835674728073	0.94
18	66351728	A	G	18	68684491	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.023615516948547	0.308
18	66351728	A	T	18	68684491	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.995408730532271	0.804
18	66351729	T	A	18	68684492	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.10671799910517E-4	0.012
18	66351729	T	C	18	68684492	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00511899055464053	0.044
18	66351729	T	G	18	68684492	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00209426351073982	0.018
18	66351730	A	C	18	68684493	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.57551893061769E-4	0.062
18	66351730	A	G	18	68684493	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.49786444877775E-5	0.008
18	66351730	A	T	18	68684493	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00282924095445805	0.056
18	66351731	A	C	18	68684494	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.986810220210838	0.66
18	66351731	A	G	18	68684494	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0458330338169992	0.348
18	66351731	A	T	18	68684494	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.987585152734444	0.73
18	66351732	A	C	18	68684495	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.763895264465601	0.634
18	66351732	A	G	18	68684495	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00351837374105805	0.032
18	66351732	A	T	18	68684495	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.815867921182413	0.672
18	66351733	G	A	18	68684496	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00269578029256642	0.116
18	66351733	G	C	18	68684496	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00565896494317663	0.066
18	66351733	G	T	18	68684496	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0274294926201315	0.146
18	66351734	A	C	18	68684497	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.994842173991658	0.836
18	66351734	A	G	18	68684497	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.107368887487222	0.38
18	66351734	A	T	18	68684497	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.994044444053562	0.854
18	66354896	C	A	18	68687659	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.61436470647564E-5	0.0
18	66354896	C	G	18	68687659	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.57076726553018E-5	0.0
18	66354896	C	T	18	68687659	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.26954946448503E-5	0.0
18	66354897	T	A	18	68687660	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.09334760927696E-4	0.004
18	66354897	T	C	18	68687660	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.11506460470128E-5	0.0
18	66354897	T	G	18	68687660	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.13363459128741E-5	0.0
18	66354898	T	A	18	68687661	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.05945110229198E-5	0.006
18	66354898	T	C	18	68687661	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.05665078503087E-5	0.002
18	66354898	T	G	18	68687661	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.26462538184892E-4	0.022
18	66354899	G	A	18	68687662	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.44879975912432E-4	0.004
18	66354899	G	C	18	68687662	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.17989215523753E-5	0.012
18	66354899	G	T	18	68687662	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.78492954263431E-5	0.018
18	66354900	T	A	18	68687663	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.483219537538281	0.322
18	66354900	T	C	18	68687663	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.669190344325202	0.424
18	66354900	T	G	18	68687663	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.333464479908923	0.396
18	66354901	T	A	18	68687664	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999870126527266	0.882
18	66354901	T	C	18	68687664	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.935821356534012	0.744
18	66354901	T	G	18	68687664	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999400978089552	0.91
18	66354902	A	C	18	68687665	y	y	splicing	TMX3(NM_019022:exon11:c.736+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.736+2T>G;ENST00000564631:exon10:c.690+2T>G)	.	.	0.999988247793601	0.93
18	66354902	A	G	18	68687665	y	y	splicing	TMX3(NM_019022:exon11:c.736+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.736+2T>C;ENST00000564631:exon10:c.690+2T>C)	.	.	0.991245725732999	0.68
18	66354902	A	T	18	68687665	y	y	splicing	TMX3(NM_019022:exon11:c.736+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.736+2T>A;ENST00000564631:exon10:c.690+2T>A)	.	.	0.999988247793601	0.93
18	66354903	C	A	18	68687666	y	y	splicing	TMX3(NM_019022:exon11:c.736+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.736+1G>T;ENST00000564631:exon10:c.690+1G>T)	.	.	0.999986675681007	0.932
18	66354903	C	G	18	68687666	y	y	splicing	TMX3(NM_019022:exon11:c.736+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.736+1G>C;ENST00000564631:exon10:c.690+1G>C)	.	.	0.999986675681007	0.932
18	66354903	C	T	18	68687666	y	y	splicing	TMX3(NM_019022:exon11:c.736+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.736+1G>A;ENST00000564631:exon10:c.690+1G>A)	.	.	0.999986675681007	0.932
18	66354904	C	A	18	68687667	y	y	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon10:c.G736T:p.G246X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000299608:exon10:c.G736T:p.G246X;	0.999989571830024	0.97
18	66354904	C	G	18	68687667	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.G736C:p.G246R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.G736C:p.G246R;	0.999997458265284	1.0
18	66354904	C	T	18	68687667	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.G736A:p.G246R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.G736A:p.G246R;	0.999992534288261	1.0
18	66354905	T	A	18	68687668	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon10:c.A735T:p.T245T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.A735T:p.T245T;	0.959473111747256	0.572
18	66354905	T	C	18	68687668	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon10:c.A735G:p.T245T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.A735G:p.T245T;	0.951798450989118	0.522
18	66354905	T	G	18	68687668	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon10:c.A735C:p.T245T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.A735C:p.T245T;	0.822507653010803	0.484
18	66354906	G	A	18	68687669	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.C734T:p.T245I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.C734T:p.T245I;	0.999752976611902	0.956
18	66354906	G	C	18	68687669	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.C734G:p.T245R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.C734G:p.T245R;	0.912163848858176	0.666
18	66354906	G	T	18	68687669	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.C734A:p.T245K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.C734A:p.T245K;	0.955534112263756	0.75
18	66355001	C	A	18	68687764	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.G639T:p.E213D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.G639T:p.E213D;	4.17878641633619E-5	0.114
18	66355001	C	G	18	68687764	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.G639C:p.E213D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.G639C:p.E213D;	1.37881008019252E-4	0.088
18	66355001	C	T	18	68687764	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon10:c.G639A:p.E213E;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.G639A:p.E213E;	3.4018210456574E-4	0.234
18	66355002	T	A	18	68687765	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.A638T:p.E213V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.A638T:p.E213V;	0.954183424992349	0.494
18	66355002	T	C	18	68687765	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.A638G:p.E213G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.A638G:p.E213G;	0.724431715236023	0.508
18	66355002	T	G	18	68687765	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon10:c.A638C:p.E213A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000299608:exon10:c.A638C:p.E213A;	0.971043863963047	0.58
18	66355003	C	A	18	68687766	y	y	splicing	TMX3(NM_019022:exon11:c.638-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.638-1G>T;ENST00000564631:exon10:c.592-1G>T)	.	.	0.999987670894945	0.938
18	66355003	C	G	18	68687766	y	y	splicing	TMX3(NM_019022:exon11:c.638-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.638-1G>C;ENST00000564631:exon10:c.592-1G>C)	.	.	0.999987670894945	0.938
18	66355003	C	T	18	68687766	y	y	splicing	TMX3(NM_019022:exon11:c.638-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.638-1G>A;ENST00000564631:exon10:c.592-1G>A)	.	.	0.999987670894945	0.896
18	66355004	T	A	18	68687767	y	y	splicing	TMX3(NM_019022:exon11:c.638-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.638-2A>T;ENST00000564631:exon10:c.592-2A>T)	.	.	0.999986741007567	0.94
18	66355004	T	C	18	68687767	y	y	splicing	TMX3(NM_019022:exon11:c.638-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.638-2A>G;ENST00000564631:exon10:c.592-2A>G)	.	.	0.999986741007567	0.94
18	66355004	T	G	18	68687767	y	y	splicing	TMX3(NM_019022:exon11:c.638-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon11:c.638-2A>C;ENST00000564631:exon10:c.592-2A>C)	.	.	0.999986741007567	0.94
18	66355005	T	A	18	68687768	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.60654963707609E-4	0.028
18	66355005	T	C	18	68687768	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.36985835425751	0.386
18	66355005	T	G	18	68687768	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.58802058540907E-4	0.036
18	66355006	A	C	18	68687769	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00157604903751314	0.046
18	66355006	A	G	18	68687769	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.21503114288274E-4	0.026
18	66355006	A	T	18	68687769	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.8006896435903E-4	0.016
18	66355007	A	C	18	68687770	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.672871215124442	0.518
18	66355007	A	G	18	68687770	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00174586467237687	0.13
18	66355007	A	T	18	68687770	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.768191444486574	0.498
18	66355008	A	C	18	68687771	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.526868790089946	0.554
18	66355008	A	G	18	68687771	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.25046771592104E-4	0.114
18	66355008	A	T	18	68687771	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.658686375363355	0.582
18	66355009	A	C	18	68687772	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.475458325039715	0.468
18	66355009	A	G	18	68687772	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.3256319215294E-4	0.036
18	66355009	A	T	18	68687772	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.598791258469088	0.476
18	66355010	C	A	18	68687773	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.48324140754656E-5	0.004
18	66355010	C	G	18	68687773	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.10083185225289E-5	0.0
18	66355010	C	T	18	68687773	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.56198738609212E-4	0.056
18	66355011	C	A	18	68687774	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.94071583457583E-5	0.088
18	66355011	C	G	18	68687774	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.39047305821107E-5	0.008
18	66355011	C	T	18	68687774	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999543565441235	0.97
18	66355012	A	C	18	68687775	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.394245092362411	0.566
18	66355012	A	G	18	68687775	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00184876664436402	0.198
18	66355012	A	T	18	68687775	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999899496034304	0.978
18	66355013	A	C	18	68687776	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.834673634115419	0.664
18	66355013	A	G	18	68687776	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0910543075095357	0.386
18	66355013	A	T	18	68687776	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.90914368115207	0.778
18	66355014	G	A	18	68687777	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.10623957959121E-5	0.004
18	66355014	G	C	18	68687777	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00108459217776737	0.09
18	66355014	G	T	18	68687777	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.41794667109575E-4	0.078
18	66357217	A	C	18	68689980	n	y	intronic	TMX3	.	.	UTR3	ENSG00000166479	.	.	1.46004206284423E-5	0.0
18	66357217	A	G	18	68689980	n	y	intronic	TMX3	.	.	UTR3	ENSG00000166479	.	.	1.46004206284423E-5	0.0
18	66357217	A	T	18	68689980	n	y	intronic	TMX3	.	.	UTR3	ENSG00000166479	.	.	1.46004206284423E-5	0.0
18	66357218	T	A	18	68689981	n	y	intronic	TMX3	.	.	UTR3	ENSG00000166479	.	.	3.42206730061288E-5	0.012
18	66357218	T	C	18	68689981	n	y	intronic	TMX3	.	.	UTR3	ENSG00000166479	.	.	4.57607375837078E-5	0.01
18	66357218	T	G	18	68689981	n	y	intronic	TMX3	.	.	UTR3	ENSG00000166479	.	.	4.57607375837078E-5	0.01
18	66357219	C	A	18	68689982	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000569053:exon10:c.592-1G>T)	.	.	7.04290327727273E-6	0.002
18	66357219	C	G	18	68689982	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000569053:exon10:c.592-1G>C)	.	.	7.04290327727273E-6	0.0
18	66357219	C	T	18	68689982	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000569053:exon10:c.592-1G>A)	.	.	7.04290327727273E-6	0.004
18	66357220	T	A	18	68689983	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000569053:exon10:c.592-2A>T)	.	.	1.58927937202005E-5	0.006
18	66357220	T	C	18	68689983	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000569053:exon10:c.592-2A>G)	.	.	1.0288925866825E-5	0.006
18	66357220	T	G	18	68689983	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000569053:exon10:c.592-2A>C)	.	.	1.0288925866825E-5	0.006
18	66357221	A	C	18	68689984	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.57607375837078E-5	0.012
18	66357221	A	G	18	68689984	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.57607375837078E-5	0.01
18	66357221	A	T	18	68689984	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.57607375837078E-5	0.01
18	66357222	T	A	18	68689985	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.58927937202005E-5	0.006
18	66357222	T	C	18	68689985	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.0288925866825E-5	0.006
18	66357222	T	G	18	68689985	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.0288925866825E-5	0.006
18	66357223	A	C	18	68689986	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.41256482875619E-5	0.002
18	66357223	A	G	18	68689986	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.41256482875619E-5	0.002
18	66357223	A	T	18	68689986	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.74891647094722E-5	0.004
18	66357224	G	A	18	68689987	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.46004206284423E-5	0.0
18	66357224	G	C	18	68689987	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.39192150166447E-5	0.008
18	66357224	G	T	18	68689987	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.46004206284423E-5	0.0
18	66357225	A	C	18	68689988	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.07620641825897E-5	0.0
18	66357225	A	G	18	68689988	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.07620641825897E-5	0.0
18	66357225	A	T	18	68689988	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.07620641825897E-5	0.0
18	66357226	A	C	18	68689989	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00149476155890927	0.012
18	66357226	A	G	18	68689989	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00149476155890927	0.012
18	66357226	A	T	18	68689989	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00149476155890927	0.016
18	66357227	A	C	18	68689990	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.08739841361144E-4	0.01
18	66357227	A	G	18	68689990	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.08739841361144E-4	0.01
18	66357227	A	T	18	68689990	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.08739841361144E-4	0.008
18	66357228	C	A	18	68689991	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.45277156108894E-5	0.0
18	66357228	C	G	18	68689991	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.45277156108894E-5	0.0
18	66357228	C	T	18	68689991	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.78864525412067E-5	0.0
18	66357229	A	C	18	68689992	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.42206730061288E-5	0.006
18	66357229	A	G	18	68689992	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.42206730061288E-5	0.006
18	66357229	A	T	18	68689992	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.21978182991299E-5	0.006
18	66357230	A	C	18	68689993	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.08739841361144E-4	0.014
18	66357230	A	G	18	68689993	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.08739841361144E-4	0.014
18	66357230	A	T	18	68689993	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.08739841361144E-4	0.012
18	66358524	G	A	18	68691287	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.C564T:p.F188F;	5.28395406066084E-5	0.0
18	66358524	G	C	18	68691287	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.C564G:p.F188L;	2.71897886113519E-5	0.0
18	66358524	G	T	18	68691287	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.C564A:p.F188L;	3.36057640300228E-5	0.03
18	66358525	A	C	18	68691288	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T563G:p.F188C;	5.38731564659595E-5	0.0
18	66358525	A	G	18	68691288	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T563C:p.F188S;	5.26362057741401E-5	0.0
18	66358525	A	T	18	68691288	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T563A:p.F188Y;	2.96404089075045E-5	0.0
18	66358526	A	C	18	68691289	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T562G:p.F188V;	0.178133339546863	0.392
18	66358526	A	G	18	68691289	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T562C:p.F188L;	0.194272711938836	0.432
18	66358526	A	T	18	68691289	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T562A:p.F188I;	0.492793223055945	0.502
18	66358527	C	A	18	68691290	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.G561T:p.K187N;	0.99929871797299	0.862
18	66358527	C	G	18	68691290	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.G561C:p.K187N;	0.999347187372748	0.84
18	66358527	C	T	18	68691290	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.G561A:p.K187K;	0.999689986502594	0.964
18	66358528	T	A	18	68691291	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A560T:p.K187M;	0.991606670699577	0.724
18	66358528	T	C	18	68691291	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A560G:p.K187R;	0.860427955095239	0.55
18	66358528	T	G	18	68691291	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A560C:p.K187T;	0.618743639085759	0.55
18	66358529	T	A	18	68691292	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000443099:exon8:c.A559T:p.K187X;	0.997333310325271	0.734
18	66358529	T	C	18	68691292	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A559G:p.K187E;	4.52639315401839E-4	0.048
18	66358529	T	G	18	68691292	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A559C:p.K187Q;	0.827515694977156	0.59
18	66358530	A	C	18	68691293	y	n	splicing	TMX3(NM_019022:exon10:c.637+2T>G)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon10:c.637+2T>G;ENST00000564631:exon9:c.591+2T>G;ENST00000569053:exon9:c.591+2T>G)	synonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T558G:p.G186G;	0.999986903042585	0.926
18	66358530	A	G	18	68691293	y	n	splicing	TMX3(NM_019022:exon10:c.637+2T>C)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon10:c.637+2T>C;ENST00000564631:exon9:c.591+2T>C;ENST00000569053:exon9:c.591+2T>C)	synonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T558C:p.G186G;	0.995346728258143	0.662
18	66358530	A	T	18	68691293	y	n	splicing	TMX3(NM_019022:exon10:c.637+2T>A)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon10:c.637+2T>A;ENST00000564631:exon9:c.591+2T>A;ENST00000569053:exon9:c.591+2T>A)	synonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T558A:p.G186G;	0.999986903042585	0.928
18	66358531	C	A	18	68691294	y	n	splicing	TMX3(NM_019022:exon10:c.637+1G>T)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon10:c.637+1G>T;ENST00000564631:exon9:c.591+1G>T;ENST00000569053:exon9:c.591+1G>T)	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.G557T:p.G186V;	0.999981760802075	0.944
18	66358531	C	G	18	68691294	y	n	splicing	TMX3(NM_019022:exon10:c.637+1G>C)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon10:c.637+1G>C;ENST00000564631:exon9:c.591+1G>C;ENST00000569053:exon9:c.591+1G>C)	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.G557C:p.G186A;	0.999967335026411	0.944
18	66358531	C	T	18	68691294	y	n	splicing	TMX3(NM_019022:exon10:c.637+1G>A)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon10:c.637+1G>A;ENST00000564631:exon9:c.591+1G>A;ENST00000569053:exon9:c.591+1G>A)	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.G557A:p.G186D;	0.999981760802075	0.944
18	66358532	C	A	18	68691295	y	n	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon9:c.G637T:p.E213X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000299608:exon9:c.G637T:p.E213X;	0.999765939075423	0.974
18	66358532	C	G	18	68691295	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.G637C:p.E213Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.G556C:p.G186R;ENSG00000166479:ENST00000299608:exon9:c.G637C:p.E213Q;	0.9889248756922	0.82
18	66358532	C	T	18	68691295	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.G637A:p.E213K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.G556A:p.G186S;ENSG00000166479:ENST00000299608:exon9:c.G637A:p.E213K;	0.999705556199549	0.968
18	66358533	A	C	18	68691296	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.T636G:p.D212E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T555G:p.D185E;ENSG00000166479:ENST00000299608:exon9:c.T636G:p.D212E;	2.23678309253696E-4	0.1
18	66358533	A	G	18	68691296	y	n	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon9:c.T636C:p.D212D;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T555C:p.D185D;ENSG00000166479:ENST00000299608:exon9:c.T636C:p.D212D;	1.28002885381729E-4	0.092
18	66358533	A	T	18	68691296	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.T636A:p.D212E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T555A:p.D185E;ENSG00000166479:ENST00000299608:exon9:c.T636A:p.D212E;	5.08642943150601E-5	0.142
18	66358534	T	A	18	68691297	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.A635T:p.D212V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A554T:p.D185V;ENSG00000166479:ENST00000299608:exon9:c.A635T:p.D212V;	0.874838453028403	0.516
18	66358534	T	C	18	68691297	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.A635G:p.D212G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A554G:p.D185G;ENSG00000166479:ENST00000299608:exon9:c.A635G:p.D212G;	0.0980951605509684	0.362
18	66358534	T	G	18	68691297	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.A635C:p.D212A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A554C:p.D185A;ENSG00000166479:ENST00000299608:exon9:c.A635C:p.D212A;	0.592282389187624	0.59
18	66358597	T	A	18	68691360	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.A572T:p.Y191F;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A491T:p.Y164F;ENSG00000166479:ENST00000299608:exon9:c.A572T:p.Y191F;	6.34005395451237E-4	0.0
18	66358597	T	C	18	68691360	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.A572G:p.Y191C;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A491G:p.Y164C;ENSG00000166479:ENST00000299608:exon9:c.A572G:p.Y191C;	0.00161607675747339	0.01
18	66358597	T	G	18	68691360	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.A572C:p.Y191S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.A491C:p.Y164S;ENSG00000166479:ENST00000299608:exon9:c.A572C:p.Y191S;	8.82911936686881E-4	0.004
18	66358598	A	C	18	68691361	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.T571G:p.Y191D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T490G:p.Y164D;ENSG00000166479:ENST00000299608:exon9:c.T571G:p.Y191D;	0.00507229169990513	0.066
18	66358598	A	G	18	68691361	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.T571C:p.Y191H;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T490C:p.Y164H;ENSG00000166479:ENST00000299608:exon9:c.T571C:p.Y191H;	0.00151709368736452	0.018
18	66358598	A	T	18	68691361	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon9:c.T571A:p.Y191N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon8:c.T490A:p.Y164N;ENSG00000166479:ENST00000299608:exon9:c.T571A:p.Y191N;	0.00275917924453131	0.022
18	66358599	C	A	18	68691362	y	y	splicing	TMX3(NM_019022:exon10:c.571-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon10:c.571-1G>T;ENST00000564631:exon9:c.525-1G>T;ENST00000569053:exon9:c.525-1G>T;ENST00000443099:exon9:c.490-1G>T)	.	.	0.999986675681007	0.932
18	66358599	C	G	18	68691362	y	y	splicing	TMX3(NM_019022:exon10:c.571-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon10:c.571-1G>C;ENST00000564631:exon9:c.525-1G>C;ENST00000569053:exon9:c.525-1G>C;ENST00000443099:exon9:c.490-1G>C)	.	.	0.999986675681007	0.932
18	66358599	C	T	18	68691362	y	y	splicing	TMX3(NM_019022:exon10:c.571-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon10:c.571-1G>A;ENST00000564631:exon9:c.525-1G>A;ENST00000569053:exon9:c.525-1G>A;ENST00000443099:exon9:c.490-1G>A)	.	.	0.999986675681007	0.932
18	66358600	T	A	18	68691363	y	y	splicing	TMX3(NM_019022:exon10:c.571-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon10:c.571-2A>T;ENST00000564631:exon9:c.525-2A>T;ENST00000569053:exon9:c.525-2A>T;ENST00000443099:exon9:c.490-2A>T)	.	.	0.999988247793601	0.926
18	66358600	T	C	18	68691363	y	y	splicing	TMX3(NM_019022:exon10:c.571-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon10:c.571-2A>G;ENST00000564631:exon9:c.525-2A>G;ENST00000569053:exon9:c.525-2A>G;ENST00000443099:exon9:c.490-2A>G)	.	.	0.999978952611685	0.928
18	66358600	T	G	18	68691363	y	y	splicing	TMX3(NM_019022:exon10:c.571-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon10:c.571-2A>C;ENST00000564631:exon9:c.525-2A>C;ENST00000569053:exon9:c.525-2A>C;ENST00000443099:exon9:c.490-2A>C)	.	.	0.999978952611685	0.928
18	66358601	G	A	18	68691364	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00183204184194438	0.06
18	66358601	G	C	18	68691364	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999482015449066	0.928
18	66358601	G	T	18	68691364	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.942098679130458	0.662
18	66358602	C	A	18	68691365	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.21400191710253E-5	0.0
18	66358602	C	G	18	68691365	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.70837089830992E-5	0.0
18	66358602	C	T	18	68691365	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.12157714267733E-5	0.002
18	66358603	A	C	18	68691366	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.865226470382938	0.57
18	66358603	A	G	18	68691366	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00139234752299328	0.066
18	66358603	A	T	18	68691366	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999864023214556	0.926
18	66358604	A	C	18	68691367	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.253956919400987	0.476
18	66358604	A	G	18	68691367	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.61217308750165E-5	0.006
18	66358604	A	T	18	68691367	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.357377604086116	0.568
18	66358605	A	C	18	68691368	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.95083113270169	0.634
18	66358605	A	G	18	68691368	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00724307684095288	0.16
18	66358605	A	T	18	68691368	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.965926210346077	0.68
18	66358606	A	C	18	68691369	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.976130915075571	0.764
18	66358606	A	G	18	68691369	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0150836946211716	0.378
18	66358606	A	T	18	68691369	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.98852380146542	0.788
18	66358607	A	C	18	68691370	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.650477735843607	0.438
18	66358607	A	G	18	68691370	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.68978930427868E-5	0.102
18	66358607	A	T	18	68691370	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.74034858924493	0.462
18	66358608	A	C	18	68691371	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999977167128871	0.984
18	66358608	A	G	18	68691371	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00285777594201546	0.188
18	66358608	A	T	18	68691371	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0868244852447784	0.386
18	66358609	T	A	18	68691372	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.91884555858567E-4	0.11
18	66358609	T	C	18	68691372	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.44391683285766E-5	0.006
18	66358609	T	G	18	68691372	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.65043549042095E-5	0.002
18	66358610	C	A	18	68691373	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.72703880944405E-5	0.0
18	66358610	C	G	18	68691373	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.37522311287489E-5	0.0
18	66358610	C	T	18	68691373	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.35950785126812E-4	0.0
18	66364455	A	C	18	68697218	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T578G:p.F193C;	6.52570757760571E-5	0.018
18	66364455	A	G	18	68697218	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T578C:p.F193S;	1.70533030373506E-4	0.014
18	66364455	A	T	18	68697218	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T578A:p.F193Y;	1.67263485908467E-4	0.042
18	66364456	A	C	18	68697219	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T577G:p.F193V;	4.95021856859317E-5	0.0
18	66364456	A	G	18	68697219	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T577C:p.F193L;	2.02066074073697E-4	0.002
18	66364456	A	T	18	68697219	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T577A:p.F193I;	1.21826189127554E-4	0.002
18	66364457	T	A	18	68697220	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A576T:p.I192I;	1.65047354028333E-5	0.0
18	66364457	T	C	18	68697220	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A576G:p.I192M;	8.52311407358287E-5	0.01
18	66364457	T	G	18	68697220	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A576C:p.I192I;	5.96593851964188E-5	0.016
18	66364458	A	C	18	68697221	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T575G:p.I192R;	2.36557197523971E-4	0.03
18	66364458	A	G	18	68697221	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T575C:p.I192T;	6.51064782499692E-5	0.014
18	66364458	A	T	18	68697221	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T575A:p.I192K;	1.0895545244258E-4	0.022
18	66364459	T	A	18	68697222	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A574T:p.I192L;	0.74784249276187	0.436
18	66364459	T	C	18	68697222	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A574G:p.I192V;	0.974700311071505	0.668
18	66364459	T	G	18	68697222	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A574C:p.I192L;	0.815450003946944	0.526
18	66364460	T	A	18	68697223	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A573T:p.V191V;	0.999928524282777	0.978
18	66364460	T	C	18	68697223	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A573G:p.V191V;	0.998968965604958	0.976
18	66364460	T	G	18	68697223	y	n	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.A573C:p.V191V;	0.999929183273197	0.956
18	66364461	A	C	18	68697224	y	n	splicing	TMX3(NM_019022:exon9:c.570+2T>G)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon9:c.570+2T>G;ENST00000564631:exon8:c.524+2T>G;ENST00000569053:exon8:c.524+2T>G;ENST00000443099:exon8:c.489+2T>G)	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T572G:p.V191G;	0.999989917668626	0.928
18	66364461	A	G	18	68697224	y	n	splicing	TMX3(NM_019022:exon9:c.570+2T>C)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon9:c.570+2T>C;ENST00000564631:exon8:c.524+2T>C;ENST00000569053:exon8:c.524+2T>C;ENST00000443099:exon8:c.489+2T>C)	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T572C:p.V191A;	0.993179459523591	0.626
18	66364461	A	T	18	68697224	y	n	splicing	TMX3(NM_019022:exon9:c.570+2T>A)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon9:c.570+2T>A;ENST00000564631:exon8:c.524+2T>A;ENST00000569053:exon8:c.524+2T>A;ENST00000443099:exon8:c.489+2T>A)	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.T572A:p.V191E;	0.999989917668626	0.928
18	66364462	C	A	18	68697225	y	n	splicing	TMX3(NM_019022:exon9:c.570+1G>T)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon9:c.570+1G>T;ENST00000564631:exon8:c.524+1G>T;ENST00000569053:exon8:c.524+1G>T;ENST00000443099:exon8:c.489+1G>T)	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.G571T:p.V191L;	0.999981760802075	0.944
18	66364462	C	G	18	68697225	y	n	splicing	TMX3(NM_019022:exon9:c.570+1G>C)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon9:c.570+1G>C;ENST00000564631:exon8:c.524+1G>C;ENST00000569053:exon8:c.524+1G>C;ENST00000443099:exon8:c.489+1G>C)	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.G571C:p.V191L;	0.999981760802075	0.944
18	66364462	C	T	18	68697225	y	n	splicing	TMX3(NM_019022:exon9:c.570+1G>A)	.	.	exonic;splicing	ENSG00000166479;ENSG00000166479(ENST00000299608:exon9:c.570+1G>A;ENST00000564631:exon8:c.524+1G>A;ENST00000569053:exon8:c.524+1G>A;ENST00000443099:exon8:c.489+1G>A)	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon8:c.G571A:p.V191I;	0.999981760802075	0.944
18	66364463	C	A	18	68697226	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.G570T:p.E190D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.G489T:p.E163D;ENSG00000166479:ENST00000562706:exon8:c.G570T:p.E190D;ENSG00000166479:ENST00000299608:exon8:c.G570T:p.E190D;	0.999982238692041	0.994
18	66364463	C	G	18	68697226	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.G570C:p.E190D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.G489C:p.E163D;ENSG00000166479:ENST00000562706:exon8:c.G570C:p.E190D;ENSG00000166479:ENST00000299608:exon8:c.G570C:p.E190D;	0.999994771681979	1.0
18	66364463	C	T	18	68697226	y	n	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon8:c.G570A:p.E190E;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.G489A:p.E163E;ENSG00000166479:ENST00000562706:exon8:c.G570A:p.E190E;ENSG00000166479:ENST00000299608:exon8:c.G570A:p.E190E;	0.999986122173801	0.998
18	66364464	T	A	18	68697227	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.A569T:p.E190V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.A488T:p.E163V;ENSG00000166479:ENST00000562706:exon8:c.A569T:p.E190V;ENSG00000166479:ENST00000299608:exon8:c.A569T:p.E190V;	0.999804351066743	0.984
18	66364464	T	C	18	68697227	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.A569G:p.E190G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.A488G:p.E163G;ENSG00000166479:ENST00000562706:exon8:c.A569G:p.E190G;ENSG00000166479:ENST00000299608:exon8:c.A569G:p.E190G;	0.999572077259331	0.98
18	66364464	T	G	18	68697227	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.A569C:p.E190A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.A488C:p.E163A;ENSG00000166479:ENST00000562706:exon8:c.A569C:p.E190A;ENSG00000166479:ENST00000299608:exon8:c.A569C:p.E190A;	0.99841191545299	0.956
18	66364465	C	A	18	68697228	y	n	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon8:c.G568T:p.E190X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000443099:exon7:c.G487T:p.E163X;ENSG00000166479:ENST00000562706:exon8:c.G568T:p.E190X;ENSG00000166479:ENST00000299608:exon8:c.G568T:p.E190X;	0.994057409834681	0.684
18	66364465	C	G	18	68697228	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.G568C:p.E190Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.G487C:p.E163Q;ENSG00000166479:ENST00000562706:exon8:c.G568C:p.E190Q;ENSG00000166479:ENST00000299608:exon8:c.G568C:p.E190Q;	0.00145838259818407	0.01
18	66364465	C	T	18	68697228	y	n	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.G568A:p.E190K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.G487A:p.E163K;ENSG00000166479:ENST00000562706:exon8:c.G568A:p.E190K;ENSG00000166479:ENST00000299608:exon8:c.G568A:p.E190K;	8.38058746602809E-4	0.02
18	66364539	T	A	18	68697302	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.A494T:p.E165V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.A413T:p.E138V;ENSG00000166479:ENST00000562706:exon8:c.A494T:p.E165V;ENSG00000166479:ENST00000299608:exon8:c.A494T:p.E165V;	0.814463709214928	0.81
18	66364539	T	C	18	68697302	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.A494G:p.E165G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.A413G:p.E138G;ENSG00000166479:ENST00000562706:exon8:c.A494G:p.E165G;ENSG00000166479:ENST00000299608:exon8:c.A494G:p.E165G;	0.560020718968724	0.676
18	66364539	T	G	18	68697302	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.A494C:p.E165A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.A413C:p.E138A;ENSG00000166479:ENST00000562706:exon8:c.A494C:p.E165A;ENSG00000166479:ENST00000299608:exon8:c.A494C:p.E165A;	0.868447294561794	0.81
18	66364540	C	A	18	68697303	y	y	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon8:c.G493T:p.E165X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000443099:exon7:c.G412T:p.E138X;ENSG00000166479:ENST00000562706:exon8:c.G493T:p.E165X;ENSG00000166479:ENST00000299608:exon8:c.G493T:p.E165X;	0.999871584996682	0.978
18	66364540	C	G	18	68697303	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.G493C:p.E165Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.G412C:p.E138Q;ENSG00000166479:ENST00000562706:exon8:c.G493C:p.E165Q;ENSG00000166479:ENST00000299608:exon8:c.G493C:p.E165Q;	0.999447416342404	0.976
18	66364540	C	T	18	68697303	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon8:c.G493A:p.E165K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon7:c.G412A:p.E138K;ENSG00000166479:ENST00000562706:exon8:c.G493A:p.E165K;ENSG00000166479:ENST00000299608:exon8:c.G493A:p.E165K;	0.998501943847035	0.898
18	66364541	C	A	18	68697304	y	y	splicing	TMX3(NM_019022:exon9:c.493-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon9:c.493-1G>T;ENST00000564631:exon8:c.447-1G>T;ENST00000569053:exon8:c.447-1G>T;ENST00000443099:exon8:c.412-1G>T;ENST00000562706:exon9:c.493-1G>T;ENST00000565918:exon10:c.545-1G>T;ENST00000564008:exon8:c.369-1G>T)	.	.	0.999985532734767	0.934
18	66364541	C	G	18	68697304	y	y	splicing	TMX3(NM_019022:exon9:c.493-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon9:c.493-1G>C;ENST00000564631:exon8:c.447-1G>C;ENST00000569053:exon8:c.447-1G>C;ENST00000443099:exon8:c.412-1G>C;ENST00000562706:exon9:c.493-1G>C;ENST00000565918:exon10:c.545-1G>C;ENST00000564008:exon8:c.369-1G>C)	.	.	0.999985532734767	0.926
18	66364541	C	T	18	68697304	y	y	splicing	TMX3(NM_019022:exon9:c.493-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon9:c.493-1G>A;ENST00000564631:exon8:c.447-1G>A;ENST00000569053:exon8:c.447-1G>A;ENST00000443099:exon8:c.412-1G>A;ENST00000562706:exon9:c.493-1G>A;ENST00000565918:exon10:c.545-1G>A;ENST00000564008:exon8:c.369-1G>A)	.	.	0.999985532734767	0.934
18	66364542	T	A	18	68697305	y	y	splicing	TMX3(NM_019022:exon9:c.493-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon9:c.493-2A>T;ENST00000564631:exon8:c.447-2A>T;ENST00000569053:exon8:c.447-2A>T;ENST00000443099:exon8:c.412-2A>T;ENST00000562706:exon9:c.493-2A>T;ENST00000565918:exon10:c.545-2A>T;ENST00000564008:exon8:c.369-2A>T)	.	.	0.999986903042585	0.926
18	66364542	T	C	18	68697305	y	y	splicing	TMX3(NM_019022:exon9:c.493-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon9:c.493-2A>G;ENST00000564631:exon8:c.447-2A>G;ENST00000569053:exon8:c.447-2A>G;ENST00000443099:exon8:c.412-2A>G;ENST00000562706:exon9:c.493-2A>G;ENST00000565918:exon10:c.545-2A>G;ENST00000564008:exon8:c.369-2A>G)	.	.	0.999966203349492	0.928
18	66364542	T	G	18	68697305	y	y	splicing	TMX3(NM_019022:exon9:c.493-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon9:c.493-2A>C;ENST00000564631:exon8:c.447-2A>C;ENST00000569053:exon8:c.447-2A>C;ENST00000443099:exon8:c.412-2A>C;ENST00000562706:exon9:c.493-2A>C;ENST00000565918:exon10:c.545-2A>C;ENST00000564008:exon8:c.369-2A>C)	.	.	0.999966203349492	0.928
18	66364543	A	C	18	68697306	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.67192296055911	0.632
18	66364543	A	G	18	68697306	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.24815243087808E-5	0.034
18	66364543	A	T	18	68697306	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00107741341760678	0.154
18	66364544	T	A	18	68697307	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.73558694586505E-4	0.014
18	66364544	T	C	18	68697307	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.57056562561198E-4	0.02
18	66364544	T	G	18	68697307	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.25471351223927E-4	0.004
18	66364545	G	A	18	68697308	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.89691700159305E-5	0.006
18	66364545	G	C	18	68697308	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.61748197269305E-4	0.048
18	66364545	G	T	18	68697308	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.41651783483861E-5	0.044
18	66364546	A	C	18	68697309	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.928125003901812	0.6
18	66364546	A	G	18	68697309	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00101506055849648	0.068
18	66364546	A	T	18	68697309	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.852067640849164	0.556
18	66364547	A	C	18	68697310	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00915006303780434	0.204
18	66364547	A	G	18	68697310	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.45780293487849E-5	0.008
18	66364547	A	T	18	68697310	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0147909145181443	0.228
18	66364548	G	A	18	68697311	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.08383397862137E-5	0.006
18	66364548	G	C	18	68697311	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.67126443037142E-4	0.008
18	66364548	G	T	18	68697311	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00205919041297274	0.07
18	66364549	A	C	18	68697312	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999940755443473	0.97
18	66364549	A	G	18	68697312	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00107456359863311	0.024
18	66364549	A	T	18	68697312	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0913307623714399	0.514
18	66364550	T	A	18	68697313	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.59546626765757E-5	0.002
18	66364550	T	C	18	68697313	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.87790735921959E-5	0.0
18	66364550	T	G	18	68697313	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.99653744782812E-5	0.0
18	66364551	A	C	18	68697314	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.697232302232396	0.674
18	66364551	A	G	18	68697314	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0488768872276157	0.238
18	66364551	A	T	18	68697314	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.640235960983634	0.658
18	66364552	C	A	18	68697315	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.19637078827419E-5	0.0
18	66364552	C	G	18	68697315	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.49055793515512E-6	0.0
18	66364552	C	T	18	68697315	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.11713455832244E-5	0.0
18	66365161	A	C	18	68697924	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.31504677165458E-5	0.0
18	66365161	A	G	18	68697924	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.89250522603024E-5	0.002
18	66365161	A	T	18	68697924	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.25088549009413E-4	0.004
18	66365162	G	A	18	68697925	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.89840711303851E-4	0.04
18	66365162	G	C	18	68697925	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.0383557947865E-4	0.018
18	66365162	G	T	18	68697925	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.80318221864679E-5	0.002
18	66365163	T	A	18	68697926	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.26483282304119E-4	0.014
18	66365163	T	C	18	68697926	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.55628763347804E-4	0.006
18	66365163	T	G	18	68697926	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00189329134089072	0.108
18	66365164	C	A	18	68697927	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999976921911931	0.986
18	66365164	C	G	18	68697927	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999954029081645	0.974
18	66365164	C	T	18	68697927	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999980845398425	0.98
18	66365165	T	A	18	68697928	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.920811675174806	0.504
18	66365165	T	C	18	68697928	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.905824963252266	0.514
18	66365165	T	G	18	68697928	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.908186358511544	0.57
18	66365166	T	A	18	68697929	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999780276109371	0.94
18	66365166	T	C	18	68697929	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.917548887339927	0.56
18	66365166	T	G	18	68697929	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999770838731758	0.874
18	66365167	A	C	18	68697930	y	y	splicing	TMX3(NM_019022:exon8:c.492+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.492+2T>G;ENST00000564631:exon7:c.446+2T>G;ENST00000569053:exon7:c.446+2T>G;ENST00000443099:exon7:c.411+2T>G;ENST00000562706:exon8:c.492+2T>G;ENST00000565918:exon9:c.544+2T>G;ENST00000564008:exon7:c.368+2T>G)	.	.	0.999988247793601	0.952
18	66365167	A	G	18	68697930	y	y	splicing	TMX3(NM_019022:exon8:c.492+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.492+2T>C;ENST00000564631:exon7:c.446+2T>C;ENST00000569053:exon7:c.446+2T>C;ENST00000443099:exon7:c.411+2T>C;ENST00000562706:exon8:c.492+2T>C;ENST00000565918:exon9:c.544+2T>C;ENST00000564008:exon7:c.368+2T>C)	.	.	0.995944345829671	0.668
18	66365167	A	T	18	68697930	y	y	splicing	TMX3(NM_019022:exon8:c.492+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.492+2T>A;ENST00000564631:exon7:c.446+2T>A;ENST00000569053:exon7:c.446+2T>A;ENST00000443099:exon7:c.411+2T>A;ENST00000562706:exon8:c.492+2T>A;ENST00000565918:exon9:c.544+2T>A;ENST00000564008:exon7:c.368+2T>A)	.	.	0.999988247793601	0.952
18	66365168	C	A	18	68697931	y	y	splicing	TMX3(NM_019022:exon8:c.492+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.492+1G>T;ENST00000564631:exon7:c.446+1G>T;ENST00000569053:exon7:c.446+1G>T;ENST00000443099:exon7:c.411+1G>T;ENST00000562706:exon8:c.492+1G>T;ENST00000565918:exon9:c.544+1G>T;ENST00000564008:exon7:c.368+1G>T)	.	.	0.999985532734767	0.95
18	66365168	C	G	18	68697931	y	y	splicing	TMX3(NM_019022:exon8:c.492+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.492+1G>C;ENST00000564631:exon7:c.446+1G>C;ENST00000569053:exon7:c.446+1G>C;ENST00000443099:exon7:c.411+1G>C;ENST00000562706:exon8:c.492+1G>C;ENST00000565918:exon9:c.544+1G>C;ENST00000564008:exon7:c.368+1G>C)	.	.	0.999985532734767	0.95
18	66365168	C	T	18	68697931	y	y	splicing	TMX3(NM_019022:exon8:c.492+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.492+1G>A;ENST00000564631:exon7:c.446+1G>A;ENST00000569053:exon7:c.446+1G>A;ENST00000443099:exon7:c.411+1G>A;ENST00000562706:exon8:c.492+1G>A;ENST00000565918:exon9:c.544+1G>A;ENST00000564008:exon7:c.368+1G>A)	.	.	0.999985532734767	0.95
18	66365169	T	A	18	68697932	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.A492T:p.K164N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.A411T:p.K137N;ENSG00000166479:ENST00000562706:exon7:c.A492T:p.K164N;ENSG00000166479:ENST00000299608:exon7:c.A492T:p.K164N;	0.183598121977476	0.276
18	66365169	T	C	18	68697932	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon7:c.A492G:p.K164K;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.A411G:p.K137K;ENSG00000166479:ENST00000562706:exon7:c.A492G:p.K164K;ENSG00000166479:ENST00000299608:exon7:c.A492G:p.K164K;	4.13609023147192E-4	0.038
18	66365169	T	G	18	68697932	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.A492C:p.K164N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.A411C:p.K137N;ENSG00000166479:ENST00000562706:exon7:c.A492C:p.K164N;ENSG00000166479:ENST00000299608:exon7:c.A492C:p.K164N;	0.00445492982755268	0.126
18	66365170	T	A	18	68697933	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.A491T:p.K164I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.A410T:p.K137I;ENSG00000166479:ENST00000562706:exon7:c.A491T:p.K164I;ENSG00000166479:ENST00000299608:exon7:c.A491T:p.K164I;	0.999887540266927	0.998
18	66365170	T	C	18	68697933	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.A491G:p.K164R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.A410G:p.K137R;ENSG00000166479:ENST00000562706:exon7:c.A491G:p.K164R;ENSG00000166479:ENST00000299608:exon7:c.A491G:p.K164R;	0.999828260598684	0.982
18	66365170	T	G	18	68697933	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.A491C:p.K164T;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.A410C:p.K137T;ENSG00000166479:ENST00000562706:exon7:c.A491C:p.K164T;ENSG00000166479:ENST00000299608:exon7:c.A491C:p.K164T;	0.9997328962889	0.99
18	66365171	T	A	18	68697934	y	y	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon7:c.A490T:p.K164X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000443099:exon6:c.A409T:p.K137X;ENSG00000166479:ENST00000562706:exon7:c.A490T:p.K164X;ENSG00000166479:ENST00000299608:exon7:c.A490T:p.K164X;	0.998355169414657	0.8
18	66365171	T	C	18	68697934	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.A490G:p.K164E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.A409G:p.K137E;ENSG00000166479:ENST00000562706:exon7:c.A490G:p.K164E;ENSG00000166479:ENST00000299608:exon7:c.A490G:p.K164E;	0.920076708646354	0.44
18	66365171	T	G	18	68697934	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.A490C:p.K164Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.A409C:p.K137Q;ENSG00000166479:ENST00000562706:exon7:c.A490C:p.K164Q;ENSG00000166479:ENST00000299608:exon7:c.A490C:p.K164Q;	0.699134036647881	0.594
18	66365267	C	A	18	68698030	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.G394T:p.A132S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.G313T:p.A105S;ENSG00000166479:ENST00000562706:exon7:c.G394T:p.A132S;ENSG00000166479:ENST00000299608:exon7:c.G394T:p.A132S;	0.976105770807032	0.758
18	66365267	C	G	18	68698030	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.G394C:p.A132P;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.G313C:p.A105P;ENSG00000166479:ENST00000562706:exon7:c.G394C:p.A132P;ENSG00000166479:ENST00000299608:exon7:c.G394C:p.A132P;	0.00361396856446653	0.072
18	66365267	C	T	18	68698030	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon7:c.G394A:p.A132T;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.G313A:p.A105T;ENSG00000166479:ENST00000562706:exon7:c.G394A:p.A132T;ENSG00000166479:ENST00000299608:exon7:c.G394A:p.A132T;	0.985859666637226	0.87
18	66365268	C	A	18	68698031	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon7:c.G393T:p.G131G;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.G312T:p.L104L;ENSG00000166479:ENST00000562706:exon7:c.G393T:p.G131G;ENSG00000166479:ENST00000299608:exon7:c.G393T:p.G131G;	0.103441991118577	0.34
18	66365268	C	G	18	68698031	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon7:c.G393C:p.G131G;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.G312C:p.L104L;ENSG00000166479:ENST00000562706:exon7:c.G393C:p.G131G;ENSG00000166479:ENST00000299608:exon7:c.G393C:p.G131G;	0.00239841456463276	0.246
18	66365268	C	T	18	68698031	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon7:c.G393A:p.G131G;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon6:c.G312A:p.L104L;ENSG00000166479:ENST00000562706:exon7:c.G393A:p.G131G;ENSG00000166479:ENST00000299608:exon7:c.G393A:p.G131G;	0.00297285356023432	0.132
18	66365269	C	A	18	68698032	y	y	splicing	TMX3(NM_019022:exon8:c.393-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.393-1G>T;ENST00000564631:exon7:c.347-1G>T;ENST00000569053:exon7:c.347-1G>T;ENST00000443099:exon7:c.312-1G>T;ENST00000562706:exon8:c.393-1G>T;ENST00000565918:exon9:c.445-1G>T;ENST00000564008:exon7:c.269-1G>T;ENST00000569982:exon7:c.287-1G>T)	.	.	0.999988630721284	0.93
18	66365269	C	G	18	68698032	y	y	splicing	TMX3(NM_019022:exon8:c.393-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.393-1G>C;ENST00000564631:exon7:c.347-1G>C;ENST00000569053:exon7:c.347-1G>C;ENST00000443099:exon7:c.312-1G>C;ENST00000562706:exon8:c.393-1G>C;ENST00000565918:exon9:c.445-1G>C;ENST00000564008:exon7:c.269-1G>C;ENST00000569982:exon7:c.287-1G>C)	.	.	0.999988630721284	0.936
18	66365269	C	T	18	68698032	y	y	splicing	TMX3(NM_019022:exon8:c.393-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.393-1G>A;ENST00000564631:exon7:c.347-1G>A;ENST00000569053:exon7:c.347-1G>A;ENST00000443099:exon7:c.312-1G>A;ENST00000562706:exon8:c.393-1G>A;ENST00000565918:exon9:c.445-1G>A;ENST00000564008:exon7:c.269-1G>A;ENST00000569982:exon7:c.287-1G>A)	.	.	0.999988630721284	0.938
18	66365270	T	A	18	68698033	y	y	splicing	TMX3(NM_019022:exon8:c.393-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.393-2A>T;ENST00000564631:exon7:c.347-2A>T;ENST00000569053:exon7:c.347-2A>T;ENST00000443099:exon7:c.312-2A>T;ENST00000562706:exon8:c.393-2A>T;ENST00000565918:exon9:c.445-2A>T;ENST00000564008:exon7:c.269-2A>T;ENST00000569982:exon7:c.287-2A>T)	.	.	0.999990764389106	0.936
18	66365270	T	C	18	68698033	y	y	splicing	TMX3(NM_019022:exon8:c.393-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.393-2A>G;ENST00000564631:exon7:c.347-2A>G;ENST00000569053:exon7:c.347-2A>G;ENST00000443099:exon7:c.312-2A>G;ENST00000562706:exon8:c.393-2A>G;ENST00000565918:exon9:c.445-2A>G;ENST00000564008:exon7:c.269-2A>G;ENST00000569982:exon7:c.287-2A>G)	.	.	0.999990764389106	0.936
18	66365270	T	G	18	68698033	y	y	splicing	TMX3(NM_019022:exon8:c.393-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon8:c.393-2A>C;ENST00000564631:exon7:c.347-2A>C;ENST00000569053:exon7:c.347-2A>C;ENST00000443099:exon7:c.312-2A>C;ENST00000562706:exon8:c.393-2A>C;ENST00000565918:exon9:c.445-2A>C;ENST00000564008:exon7:c.269-2A>C;ENST00000569982:exon7:c.287-2A>C)	.	.	0.999990764389106	0.936
18	66365271	G	A	18	68698034	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0675091436802519	0.078
18	66365271	G	C	18	68698034	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999956707386431	0.974
18	66365271	G	T	18	68698034	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99854252656883	0.92
18	66365272	T	A	18	68698035	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.62310275888871E-4	0.032
18	66365272	T	C	18	68698035	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.984815471727467	0.8
18	66365272	T	G	18	68698035	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.52851271190167E-4	0.11
18	66365273	T	A	18	68698036	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.125326697552E-4	0.048
18	66365273	T	C	18	68698036	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00244207981122352	0.054
18	66365273	T	G	18	68698036	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.64547742750245E-4	0.004
18	66365274	G	A	18	68698037	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.94244447862063E-5	0.0
18	66365274	G	C	18	68698037	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.6582539302593E-4	0.156
18	66365274	G	T	18	68698037	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00171159956670049	0.206
18	66365275	C	A	18	68698038	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.67944982512943E-5	0.0
18	66365275	C	G	18	68698038	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.67944982512943E-5	0.0
18	66365275	C	T	18	68698038	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.64821748707064E-5	0.002
18	66365276	A	C	18	68698039	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.612368476823201	0.568
18	66365276	A	G	18	68698039	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.65263049272151E-4	0.024
18	66365276	A	T	18	68698039	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999947445367628	0.992
18	66365277	C	A	18	68698040	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.96060430202362E-5	0.006
18	66365277	C	G	18	68698040	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.972413339444E-5	0.0
18	66365277	C	T	18	68698040	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.56852108409691E-5	0.02
18	66365278	A	C	18	68698041	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0402762250756553	0.342
18	66365278	A	G	18	68698041	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00165827725397013	0.074
18	66365278	A	T	18	68698041	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999889503477825	0.962
18	66365279	A	C	18	68698042	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.226836952780308	0.456
18	66365279	A	G	18	68698042	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00145246314587995	0.11
18	66365279	A	T	18	68698042	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.283037277684386	0.474
18	66365280	C	A	18	68698043	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.62355364054869E-5	0.004
18	66365280	C	G	18	68698043	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.24619531880577E-5	0.006
18	66365280	C	T	18	68698043	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.15709410165994E-4	0.002
18	66367634	T	A	18	68700397	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.41566483889618E-5	0.016
18	66367634	T	C	18	68700397	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.77641628667848E-5	0.008
18	66367634	T	G	18	68700397	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.72991237536783E-5	0.002
18	66367635	A	C	18	68700398	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0012338591716885	0.0
18	66367635	A	G	18	68700398	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00295482651748679	0.004
18	66367635	A	T	18	68700398	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00292417644225795	0.014
18	66367636	A	C	18	68700399	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.227765666433064	0.342
18	66367636	A	G	18	68700399	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.319867931501527	0.446
18	66367636	A	T	18	68700399	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.464486653795148	0.484
18	66367637	C	A	18	68700400	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999901571467285	0.758
18	66367637	C	G	18	68700400	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999783250751685	0.964
18	66367637	C	T	18	68700400	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999894306768636	0.8
18	66367638	T	A	18	68700401	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.997897078988767	0.83
18	66367638	T	C	18	68700401	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998962510588708	0.898
18	66367638	T	G	18	68700401	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.992719330621975	0.784
18	66367639	T	A	18	68700402	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.996047320169191	0.818
18	66367639	T	C	18	68700402	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.216893935117067	0.314
18	66367639	T	G	18	68700402	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.996950936977727	0.91
18	66367640	A	C	18	68700403	y	y	splicing	TMX3(NM_019022:exon7:c.392+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.392+2T>G;ENST00000564631:exon6:c.346+2T>G;ENST00000569053:exon6:c.346+2T>G;ENST00000562706:exon7:c.392+2T>G;ENST00000565918:exon8:c.444+2T>G;ENST00000564008:exon6:c.268+2T>G;ENST00000569982:exon6:c.286+2T>G)	.	.	0.999988247793601	0.93
18	66367640	A	G	18	68700403	y	y	splicing	TMX3(NM_019022:exon7:c.392+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.392+2T>C;ENST00000564631:exon6:c.346+2T>C;ENST00000569053:exon6:c.346+2T>C;ENST00000562706:exon7:c.392+2T>C;ENST00000565918:exon8:c.444+2T>C;ENST00000564008:exon6:c.268+2T>C;ENST00000569982:exon6:c.286+2T>C)	.	.	0.996218475494576	0.676
18	66367640	A	T	18	68700403	y	y	splicing	TMX3(NM_019022:exon7:c.392+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.392+2T>A;ENST00000564631:exon6:c.346+2T>A;ENST00000569053:exon6:c.346+2T>A;ENST00000562706:exon7:c.392+2T>A;ENST00000565918:exon8:c.444+2T>A;ENST00000564008:exon6:c.268+2T>A;ENST00000569982:exon6:c.286+2T>A)	.	.	0.999988247793601	0.93
18	66367641	C	A	18	68700404	y	y	splicing	TMX3(NM_019022:exon7:c.392+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.392+1G>T;ENST00000564631:exon6:c.346+1G>T;ENST00000569053:exon6:c.346+1G>T;ENST00000562706:exon7:c.392+1G>T;ENST00000565918:exon8:c.444+1G>T;ENST00000564008:exon6:c.268+1G>T;ENST00000569982:exon6:c.286+1G>T)	.	.	0.999989072007339	0.934
18	66367641	C	G	18	68700404	y	y	splicing	TMX3(NM_019022:exon7:c.392+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.392+1G>C;ENST00000564631:exon6:c.346+1G>C;ENST00000569053:exon6:c.346+1G>C;ENST00000562706:exon7:c.392+1G>C;ENST00000565918:exon8:c.444+1G>C;ENST00000564008:exon6:c.268+1G>C;ENST00000569982:exon6:c.286+1G>C)	.	.	0.999989072007339	0.934
18	66367641	C	T	18	68700404	y	y	splicing	TMX3(NM_019022:exon7:c.392+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.392+1G>A;ENST00000564631:exon6:c.346+1G>A;ENST00000569053:exon6:c.346+1G>A;ENST00000562706:exon7:c.392+1G>A;ENST00000565918:exon8:c.444+1G>A;ENST00000564008:exon6:c.268+1G>A;ENST00000569982:exon6:c.286+1G>A)	.	.	0.999989072007339	0.934
18	66367642	C	A	18	68700405	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon6:c.G392T:p.G131V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.G392T:p.G131V;ENSG00000166479:ENST00000299608:exon6:c.G392T:p.G131V;	0.999908098872175	0.932
18	66367642	C	G	18	68700405	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon6:c.G392C:p.G131A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.G392C:p.G131A;ENSG00000166479:ENST00000299608:exon6:c.G392C:p.G131A;	0.999895654134675	0.922
18	66367642	C	T	18	68700405	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon6:c.G392A:p.G131E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.G392A:p.G131E;ENSG00000166479:ENST00000299608:exon6:c.G392A:p.G131E;	0.999939374955159	0.964
18	66367643	C	A	18	68700406	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon6:c.G391T:p.G131W;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.G391T:p.G131W;ENSG00000166479:ENST00000299608:exon6:c.G391T:p.G131W;	0.991246449439132	0.85
18	66367643	C	G	18	68700406	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon6:c.G391C:p.G131R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.G391C:p.G131R;ENSG00000166479:ENST00000299608:exon6:c.G391C:p.G131R;	0.992582827656597	0.896
18	66367643	C	T	18	68700406	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon6:c.G391A:p.G131R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.G391A:p.G131R;ENSG00000166479:ENST00000299608:exon6:c.G391A:p.G131R;	0.968702840657575	0.648
18	66367644	A	C	18	68700407	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon6:c.T390G:p.S130S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.T390G:p.S130S;ENSG00000166479:ENST00000299608:exon6:c.T390G:p.S130S;	0.00784101421064149	0.086
18	66367644	A	G	18	68700407	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon6:c.T390C:p.S130S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.T390C:p.S130S;ENSG00000166479:ENST00000299608:exon6:c.T390C:p.S130S;	0.0010926235632312	0.06
18	66367644	A	T	18	68700407	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon6:c.T390A:p.S130S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000562706:exon6:c.T390A:p.S130S;ENSG00000166479:ENST00000299608:exon6:c.T390A:p.S130S;	0.00159369603782997	0.092
18	66367721	A	C	18	68700484	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon6:c.T313G:p.L105V;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000564008:exon5:c.T189G:p.Y63X;	0.0129787659496535	0.288
18	66367721	A	G	18	68700484	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon6:c.T313C:p.L105L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon7:c.T365C:p.I122T;	1.34616096808572E-4	0.068
18	66367721	A	T	18	68700484	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon6:c.T313A:p.L105I;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000564008:exon5:c.T189A:p.Y63X;	0.00955283545332428	0.262
18	66367722	T	A	18	68700485	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon6:c.A312T:p.L104L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000564008:exon5:c.A188T:p.Y63F;ENSG00000166479:ENST00000565918:exon7:c.A364T:p.I122F;ENSG00000166479:ENST00000569982:exon5:c.A206T:p.N69I;ENSG00000166479:ENST00000564631:exon5:c.A266T:p.N89I;ENSG00000166479:ENST00000569053:exon5:c.A266T:p.N89I;	0.304232129438862	0.428
18	66367722	T	C	18	68700485	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon6:c.A312G:p.L104L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000564008:exon5:c.A188G:p.Y63C;ENSG00000166479:ENST00000565918:exon7:c.A364G:p.I122V;ENSG00000166479:ENST00000569982:exon5:c.A206G:p.N69S;ENSG00000166479:ENST00000564631:exon5:c.A266G:p.N89S;ENSG00000166479:ENST00000569053:exon5:c.A266G:p.N89S;	4.36538608698332E-4	0.034
18	66367722	T	G	18	68700485	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon6:c.A312C:p.L104L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000564008:exon5:c.A188C:p.Y63S;ENSG00000166479:ENST00000565918:exon7:c.A364C:p.I122L;ENSG00000166479:ENST00000569982:exon5:c.A206C:p.N69T;ENSG00000166479:ENST00000564631:exon5:c.A266C:p.N89T;ENSG00000166479:ENST00000569053:exon5:c.A266C:p.N89T;	0.145475174635653	0.424
18	66367723	C	A	18	68700486	y	y	splicing	TMX3(NM_019022:exon7:c.312-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.312-1G>T;ENST00000564631:exon6:c.266-1G>T;ENST00000569053:exon6:c.266-1G>T;ENST00000562706:exon7:c.312-1G>T;ENST00000565918:exon8:c.364-1G>T;ENST00000564008:exon6:c.188-1G>T;ENST00000569982:exon6:c.206-1G>T)	.	.	0.999989072007339	0.934
18	66367723	C	G	18	68700486	y	y	splicing	TMX3(NM_019022:exon7:c.312-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.312-1G>C;ENST00000564631:exon6:c.266-1G>C;ENST00000569053:exon6:c.266-1G>C;ENST00000562706:exon7:c.312-1G>C;ENST00000565918:exon8:c.364-1G>C;ENST00000564008:exon6:c.188-1G>C;ENST00000569982:exon6:c.206-1G>C)	.	.	0.999989072007339	0.934
18	66367723	C	T	18	68700486	y	y	splicing	TMX3(NM_019022:exon7:c.312-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.312-1G>A;ENST00000564631:exon6:c.266-1G>A;ENST00000569053:exon6:c.266-1G>A;ENST00000562706:exon7:c.312-1G>A;ENST00000565918:exon8:c.364-1G>A;ENST00000564008:exon6:c.188-1G>A;ENST00000569982:exon6:c.206-1G>A)	.	.	0.999989072007339	0.934
18	66367724	T	A	18	68700487	y	y	splicing	TMX3(NM_019022:exon7:c.312-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.312-2A>T;ENST00000564631:exon6:c.266-2A>T;ENST00000569053:exon6:c.266-2A>T;ENST00000562706:exon7:c.312-2A>T;ENST00000565918:exon8:c.364-2A>T;ENST00000564008:exon6:c.188-2A>T;ENST00000569982:exon6:c.206-2A>T)	.	.	0.999988247793601	0.93
18	66367724	T	C	18	68700487	y	y	splicing	TMX3(NM_019022:exon7:c.312-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.312-2A>G;ENST00000564631:exon6:c.266-2A>G;ENST00000569053:exon6:c.266-2A>G;ENST00000562706:exon7:c.312-2A>G;ENST00000565918:exon8:c.364-2A>G;ENST00000564008:exon6:c.188-2A>G;ENST00000569982:exon6:c.206-2A>G)	.	.	0.999988247793601	0.928
18	66367724	T	G	18	68700487	y	y	splicing	TMX3(NM_019022:exon7:c.312-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon7:c.312-2A>C;ENST00000564631:exon6:c.266-2A>C;ENST00000569053:exon6:c.266-2A>C;ENST00000562706:exon7:c.312-2A>C;ENST00000565918:exon8:c.364-2A>C;ENST00000564008:exon6:c.188-2A>C;ENST00000569982:exon6:c.206-2A>C)	.	.	0.999988247793601	0.928
18	66367725	T	A	18	68700488	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.12911714779456E-4	0.006
18	66367725	T	C	18	68700488	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0372579423266938	0.154
18	66367725	T	G	18	68700488	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.27515165404511E-4	0.056
18	66367726	T	A	18	68700489	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.49706531000043E-5	0.01
18	66367726	T	C	18	68700489	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.17694708924357E-4	0.0
18	66367726	T	G	18	68700489	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.06181362021706E-5	0.0
18	66367727	A	C	18	68700490	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00397903057748311	0.18
18	66367727	A	G	18	68700490	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.75167691171165E-4	0.004
18	66367727	A	T	18	68700490	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00126317483325982	0.108
18	66367728	A	C	18	68700491	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0531887343956918	0.244
18	66367728	A	G	18	68700491	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00130488411469785	0.03
18	66367728	A	T	18	68700491	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0116136358730198	0.182
18	66367729	A	C	18	68700492	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.93195967358626E-4	0.02
18	66367729	A	G	18	68700492	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.41933319183309E-4	0.0
18	66367729	A	T	18	68700492	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00388845106215533	0.108
18	66367730	A	C	18	68700493	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.55003502300322E-4	0.044
18	66367730	A	G	18	68700493	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.16674985094485E-5	0.0
18	66367730	A	T	18	68700493	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00153731950535708	0.056
18	66367731	A	C	18	68700494	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.14918217699014E-4	0.066
18	66367731	A	G	18	68700494	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.76259583904822E-5	0.0
18	66367731	A	T	18	68700494	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.6079124623523E-5	0.048
18	66367732	A	C	18	68700495	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.74382727807147E-5	0.06
18	66367732	A	G	18	68700495	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.07587733396865E-5	0.002
18	66367732	A	T	18	68700495	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.03481905069176E-5	0.04
18	66367733	A	C	18	68700496	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.56519477119803E-4	0.134
18	66367733	A	G	18	68700496	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.74537854802487E-5	0.01
18	66367733	A	T	18	68700496	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.32523698140338E-4	0.09
18	66367734	A	C	18	68700497	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00570090193999368	0.268
18	66367734	A	G	18	68700497	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00463313808299999	0.046
18	66367734	A	T	18	68700497	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0116178145697625	0.304
18	66368845	T	A	18	68701608	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.20590404879984E-5	0.004
18	66368845	T	C	18	68701608	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.20590404879984E-5	0.004
18	66368845	T	G	18	68701608	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.20590404879984E-5	0.004
18	66368846	T	A	18	68701609	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.08802802279601E-5	0.002
18	66368846	T	C	18	68701609	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.78864525412067E-5	0.002
18	66368846	T	G	18	68701609	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.78864525412067E-5	0.002
18	66368847	A	C	18	68701610	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.38118228050303E-4	0.012
18	66368847	A	G	18	68701610	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.38118228050303E-4	0.012
18	66368847	A	T	18	68701610	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.38118228050303E-4	0.012
18	66368848	C	A	18	68701611	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.58461283867531E-5	0.01
18	66368848	C	G	18	68701611	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.62279994356454E-5	0.008
18	66368848	C	T	18	68701611	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.58461283867531E-5	0.006
18	66368849	A	C	18	68701612	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.85062238621114E-5	0.0
18	66368849	A	G	18	68701612	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.85062238621114E-5	0.0
18	66368849	A	T	18	68701612	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.85062238621114E-5	0.0
18	66368850	T	A	18	68701613	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.10275622159801E-5	0.0
18	66368850	T	C	18	68701613	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.10275622159801E-5	0.0
18	66368850	T	G	18	68701613	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.10275622159801E-5	0.0
18	66368851	A	C	18	68701614	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.363+2T>G)	.	.	8.16602419096015E-4	0.002
18	66368851	A	G	18	68701614	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.363+2T>C)	.	.	8.16602419096015E-4	0.002
18	66368851	A	T	18	68701614	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.363+2T>A)	.	.	5.72247645960254E-4	0.004
18	66368852	C	A	18	68701615	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.363+1G>T)	.	.	8.30945796578933E-5	0.0
18	66368852	C	G	18	68701615	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.363+1G>C)	.	.	8.30945796578933E-5	0.0
18	66368852	C	T	18	68701615	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.363+1G>A)	.	.	8.30945796578933E-5	0.0
18	66368853	T	A	18	68701616	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.A363T:p.E121D;	1.77945247904412E-4	0.008
18	66368853	T	C	18	68701616	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.A363G:p.E121E;	8.44656497212392E-5	0.004
18	66368853	T	G	18	68701616	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.A363C:p.E121D;	1.96723790606719E-4	0.006
18	66368854	T	A	18	68701617	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.A362T:p.E121V;	1.83354364937545E-4	0.01
18	66368854	T	C	18	68701617	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.A362G:p.E121G;	1.83354364937545E-4	0.01
18	66368854	T	G	18	68701617	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.A362C:p.E121A;	1.4536437166225E-4	0.008
18	66368855	C	A	18	68701618	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000565918:exon6:c.G361T:p.E121X;	2.32843808885116E-4	0.086
18	66368855	C	G	18	68701618	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.G361C:p.E121Q;	1.05356074481699E-4	0.002
18	66368855	C	T	18	68701618	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.G361A:p.E121K;	1.18780094847006E-4	0.002
18	66368903	T	A	18	68701666	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000565918:exon6:c.A313T:p.R105X;	2.27135683753794E-4	0.178
18	66368903	T	C	18	68701666	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.A313G:p.R105G;	1.30819145506541E-4	0.002
18	66368903	T	G	18	68701666	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.A313C:p.R105R;	1.73401366462724E-4	0.002
18	66368904	A	C	18	68701667	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.T312G:p.L104L;	1.05918261028706E-4	0.0
18	66368904	A	G	18	68701667	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.T312C:p.L104L;	1.05918261028706E-4	0.0
18	66368904	A	T	18	68701667	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000565918:exon6:c.T312A:p.L104L;	1.73401366462724E-4	0.002
18	66368905	C	A	18	68701668	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.312-1G>T)	.	.	2.18203232015174E-4	0.008
18	66368905	C	G	18	68701668	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.312-1G>C)	.	.	1.63392923722222E-4	0.006
18	66368905	C	T	18	68701668	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.312-1G>A)	.	.	1.17219021815175E-4	0.01
18	66368906	T	A	18	68701669	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.312-2A>T)	.	.	4.50637419222736E-5	0.002
18	66368906	T	C	18	68701669	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.312-2A>G)	.	.	3.13536747317882E-5	0.002
18	66368906	T	G	18	68701669	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000565918:exon7:c.312-2A>C)	.	.	3.13536747317882E-5	0.002
18	66368907	A	C	18	68701670	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.39826558468951E-5	0.008
18	66368907	A	G	18	68701670	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.39826558468951E-5	0.008
18	66368907	A	T	18	68701670	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.10853470952722E-4	0.008
18	66368908	G	A	18	68701671	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.35455821614645E-4	0.036
18	66368908	G	C	18	68701671	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.42477121288917E-5	0.036
18	66368908	G	T	18	68701671	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.42477121288917E-5	0.036
18	66368909	A	C	18	68701672	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.09395893123295E-5	0.002
18	66368909	A	G	18	68701672	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.09395893123295E-5	0.002
18	66368909	A	T	18	68701672	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.30297025138908E-5	0.002
18	66368910	A	C	18	68701673	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.22800136258938E-5	0.004
18	66368910	A	G	18	68701673	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.22800136258938E-5	0.004
18	66368910	A	T	18	68701673	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.22800136258938E-5	0.004
18	66368911	A	C	18	68701674	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.30297025138908E-5	0.004
18	66368911	A	G	18	68701674	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.30297025138908E-5	0.002
18	66368911	A	T	18	68701674	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.30297025138908E-5	0.002
18	66368912	T	A	18	68701675	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.30176921285033E-4	0.0
18	66368912	T	C	18	68701675	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.30176921285033E-4	0.0
18	66368912	T	G	18	68701675	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.30176921285033E-4	0.0
18	66368913	T	A	18	68701676	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.67894152125472E-4	0.012
18	66368913	T	C	18	68701676	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.98561944552076E-4	0.02
18	66368913	T	G	18	68701676	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.98561944552076E-4	0.02
18	66368914	A	C	18	68701677	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.5230933723647E-4	0.0
18	66368914	A	G	18	68701677	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.5230933723647E-4	0.0
18	66368914	A	T	18	68701677	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.15589091241306E-4	0.008
18	66368915	A	C	18	68701678	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00930804425121216	0.08
18	66368915	A	G	18	68701678	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00930804425121216	0.08
18	66368915	A	T	18	68701678	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0230924138342898	0.144
18	66368916	C	A	18	68701679	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.45781561428322E-5	0.008
18	66368916	C	G	18	68701679	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.90446143668106E-5	0.008
18	66368916	C	T	18	68701679	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.45781561428322E-5	0.008
18	66368974	C	A	18	68701737	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.31707258330041E-4	0.01
18	66368974	C	G	18	68701737	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.38763127368022E-4	0.0
18	66368974	C	T	18	68701737	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.54724278170976E-4	0.0
18	66368975	A	C	18	68701738	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.50348523711255E-4	0.004
18	66368975	A	G	18	68701738	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.52472843058048E-4	0.006
18	66368975	A	T	18	68701738	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.0959657201344E-4	0.004
18	66368976	A	C	18	68701739	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99962157627928	0.932
18	66368976	A	G	18	68701739	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999119764336708	0.976
18	66368976	A	T	18	68701739	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999595135770613	0.828
18	66368977	C	A	18	68701740	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999962087023004	0.966
18	66368977	C	G	18	68701740	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999963521587067	0.858
18	66368977	C	T	18	68701740	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999985307837029	0.998
18	66368978	T	A	18	68701741	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99971676317222	0.948
18	66368978	T	C	18	68701741	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999568380039615	0.962
18	66368978	T	G	18	68701741	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999819433221318	0.914
18	66368979	T	A	18	68701742	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999742273536858	0.962
18	66368979	T	C	18	68701742	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.993582990837132	0.648
18	66368979	T	G	18	68701742	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999742273536858	0.96
18	66368980	A	C	18	68701743	y	y	splicing	TMX3(NM_019022:exon6:c.311+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.311+2T>G;ENST00000443099:exon6:c.311+2T>G;ENST00000562706:exon6:c.311+2T>G;ENST00000565918:exon6:c.311+2T>G;ENST00000564008:exon5:c.187+2T>G)	.	.	0.999988247793601	0.932
18	66368980	A	G	18	68701743	y	y	splicing	TMX3(NM_019022:exon6:c.311+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.311+2T>C;ENST00000443099:exon6:c.311+2T>C;ENST00000562706:exon6:c.311+2T>C;ENST00000565918:exon6:c.311+2T>C;ENST00000564008:exon5:c.187+2T>C)	.	.	0.99340600729494	0.696
18	66368980	A	T	18	68701743	y	y	splicing	TMX3(NM_019022:exon6:c.311+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.311+2T>A;ENST00000443099:exon6:c.311+2T>A;ENST00000562706:exon6:c.311+2T>A;ENST00000565918:exon6:c.311+2T>A;ENST00000564008:exon5:c.187+2T>A)	.	.	0.999988247793601	0.932
18	66368981	C	A	18	68701744	y	y	splicing	TMX3(NM_019022:exon6:c.311+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.311+1G>T;ENST00000443099:exon6:c.311+1G>T;ENST00000562706:exon6:c.311+1G>T;ENST00000565918:exon6:c.311+1G>T;ENST00000564008:exon5:c.187+1G>T)	.	.	0.999990361384395	0.938
18	66368981	C	G	18	68701744	y	y	splicing	TMX3(NM_019022:exon6:c.311+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.311+1G>C;ENST00000443099:exon6:c.311+1G>C;ENST00000562706:exon6:c.311+1G>C;ENST00000565918:exon6:c.311+1G>C;ENST00000564008:exon5:c.187+1G>C)	.	.	0.999990361384395	0.938
18	66368981	C	T	18	68701744	y	y	splicing	TMX3(NM_019022:exon6:c.311+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.311+1G>A;ENST00000443099:exon6:c.311+1G>A;ENST00000562706:exon6:c.311+1G>A;ENST00000565918:exon6:c.311+1G>A;ENST00000564008:exon5:c.187+1G>A)	.	.	0.999990361384395	0.938
18	66368982	A	C	18	68701745	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.T311G:p.L104R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.T311G:p.L104R;ENSG00000166479:ENST00000562706:exon5:c.T311G:p.L104R;ENSG00000166479:ENST00000564008:exon4:c.T187G:p.Y63D;ENSG00000166479:ENST00000565918:exon5:c.T311G:p.L104R;ENSG00000166479:ENST00000299608:exon5:c.T311G:p.L104R;	0.0111861842204066	0.094
18	66368982	A	G	18	68701745	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.T311C:p.L104P;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.T311C:p.L104P;ENSG00000166479:ENST00000562706:exon5:c.T311C:p.L104P;ENSG00000166479:ENST00000564008:exon4:c.T187C:p.Y63H;ENSG00000166479:ENST00000565918:exon5:c.T311C:p.L104P;ENSG00000166479:ENST00000299608:exon5:c.T311C:p.L104P;	0.730672221001	0.7
18	66368982	A	T	18	68701745	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.T311A:p.L104Q;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.T311A:p.L104Q;ENSG00000166479:ENST00000562706:exon5:c.T311A:p.L104Q;ENSG00000166479:ENST00000564008:exon4:c.T187A:p.Y63N;ENSG00000166479:ENST00000565918:exon5:c.T311A:p.L104H;ENSG00000166479:ENST00000299608:exon5:c.T311A:p.L104Q;	0.255719256855887	0.456
18	66368983	G	A	18	68701746	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon5:c.C310T:p.L104L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000565918:exon5:c.C310T:p.L104F;	0.00737760370674691	0.118
18	66368983	G	C	18	68701746	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.C310G:p.L104V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.C310G:p.L104V;ENSG00000166479:ENST00000562706:exon5:c.C310G:p.L104V;ENSG00000166479:ENST00000564008:exon4:c.C186G:p.S62R;ENSG00000166479:ENST00000565918:exon5:c.C310G:p.L104V;ENSG00000166479:ENST00000299608:exon5:c.C310G:p.L104V;	0.0137295957711776	0.138
18	66368983	G	T	18	68701746	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.C310A:p.L104I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.C310A:p.L104M;ENSG00000166479:ENST00000562706:exon5:c.C310A:p.L104I;ENSG00000166479:ENST00000564008:exon4:c.C186A:p.S62R;ENSG00000166479:ENST00000565918:exon5:c.C310A:p.L104I;ENSG00000166479:ENST00000299608:exon5:c.C310A:p.L104I;	0.01297835414137	0.122
18	66368984	C	A	18	68701747	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.G309T:p.K103N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.G309T:p.K103N;ENSG00000166479:ENST00000562706:exon5:c.G309T:p.K103N;ENSG00000166479:ENST00000564008:exon4:c.G185T:p.S62I;ENSG00000166479:ENST00000565918:exon5:c.G309T:p.K103N;ENSG00000166479:ENST00000299608:exon5:c.G309T:p.K103N;	0.312530706606249	0.268
18	66368984	C	G	18	68701747	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.G309C:p.K103N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.G309C:p.K103N;ENSG00000166479:ENST00000562706:exon5:c.G309C:p.K103N;ENSG00000166479:ENST00000564008:exon4:c.G185C:p.S62T;ENSG00000166479:ENST00000565918:exon5:c.G309C:p.K103N;ENSG00000166479:ENST00000299608:exon5:c.G309C:p.K103N;	0.00566570612957209	0.122
18	66368984	C	T	18	68701747	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon5:c.G309A:p.K103K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000564008:exon4:c.G185A:p.S62N;	0.00499419637732457	0.074
18	66369026	G	A	18	68701789	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon5:c.C267T:p.S89S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000564008:exon4:c.C143T:p.A48V;	6.1599295508224E-4	0.014
18	66369026	G	C	18	68701789	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.C267G:p.S89R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.C267G:p.S89R;ENSG00000166479:ENST00000562706:exon5:c.C267G:p.S89R;ENSG00000166479:ENST00000564008:exon4:c.C143G:p.A48G;ENSG00000166479:ENST00000565918:exon5:c.C267G:p.S89R;ENSG00000166479:ENST00000299608:exon5:c.C267G:p.S89R;	2.8232495497992E-4	0.01
18	66369026	G	T	18	68701789	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.C267A:p.S89R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.C267A:p.S89R;ENSG00000166479:ENST00000562706:exon5:c.C267A:p.S89R;ENSG00000166479:ENST00000564008:exon4:c.C143A:p.A48E;ENSG00000166479:ENST00000565918:exon5:c.C267A:p.S89R;ENSG00000166479:ENST00000299608:exon5:c.C267A:p.S89R;	1.55207507397472E-4	0.008
18	66369027	C	A	18	68701790	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.G266T:p.S89I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.G266T:p.S89I;ENSG00000166479:ENST00000562706:exon5:c.G266T:p.S89I;ENSG00000166479:ENST00000564008:exon4:c.G142T:p.A48S;ENSG00000166479:ENST00000565918:exon5:c.G266T:p.S89I;ENSG00000166479:ENST00000299608:exon5:c.G266T:p.S89I;	0.999691837204483	0.992
18	66369027	C	G	18	68701790	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.G266C:p.S89T;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.G266C:p.S89T;ENSG00000166479:ENST00000562706:exon5:c.G266C:p.S89T;ENSG00000166479:ENST00000564008:exon4:c.G142C:p.A48P;ENSG00000166479:ENST00000565918:exon5:c.G266C:p.S89T;ENSG00000166479:ENST00000299608:exon5:c.G266C:p.S89T;	0.999153652111865	0.95
18	66369027	C	T	18	68701790	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon5:c.G266A:p.S89N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon5:c.G266A:p.S89N;ENSG00000166479:ENST00000562706:exon5:c.G266A:p.S89N;ENSG00000166479:ENST00000564008:exon4:c.G142A:p.A48T;ENSG00000166479:ENST00000565918:exon5:c.G266A:p.S89N;ENSG00000166479:ENST00000299608:exon5:c.G266A:p.S89N;	0.998475552895534	0.798
18	66369028	C	A	18	68701791	y	y	splicing	TMX3(NM_019022:exon6:c.266-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.266-1G>T;ENST00000443099:exon6:c.266-1G>T;ENST00000562706:exon6:c.266-1G>T;ENST00000565918:exon6:c.266-1G>T;ENST00000564008:exon5:c.142-1G>T)	.	.	0.999990361384395	0.942
18	66369028	C	G	18	68701791	y	y	splicing	TMX3(NM_019022:exon6:c.266-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.266-1G>C;ENST00000443099:exon6:c.266-1G>C;ENST00000562706:exon6:c.266-1G>C;ENST00000565918:exon6:c.266-1G>C;ENST00000564008:exon5:c.142-1G>C)	.	.	0.999990361384395	0.942
18	66369028	C	T	18	68701791	y	y	splicing	TMX3(NM_019022:exon6:c.266-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.266-1G>A;ENST00000443099:exon6:c.266-1G>A;ENST00000562706:exon6:c.266-1G>A;ENST00000565918:exon6:c.266-1G>A;ENST00000564008:exon5:c.142-1G>A)	.	.	0.999990361384395	0.942
18	66369029	T	A	18	68701792	y	y	splicing	TMX3(NM_019022:exon6:c.266-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.266-2A>T;ENST00000443099:exon6:c.266-2A>T;ENST00000562706:exon6:c.266-2A>T;ENST00000565918:exon6:c.266-2A>T;ENST00000564008:exon5:c.142-2A>T)	.	.	0.999988247793601	0.942
18	66369029	T	C	18	68701792	y	y	splicing	TMX3(NM_019022:exon6:c.266-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.266-2A>G;ENST00000443099:exon6:c.266-2A>G;ENST00000562706:exon6:c.266-2A>G;ENST00000565918:exon6:c.266-2A>G;ENST00000564008:exon5:c.142-2A>G)	.	.	0.999988247793601	0.942
18	66369029	T	G	18	68701792	y	y	splicing	TMX3(NM_019022:exon6:c.266-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon6:c.266-2A>C;ENST00000443099:exon6:c.266-2A>C;ENST00000562706:exon6:c.266-2A>C;ENST00000565918:exon6:c.266-2A>C;ENST00000564008:exon5:c.142-2A>C)	.	.	0.999988247793601	0.942
18	66369030	T	A	18	68701793	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.0789675723825E-4	0.018
18	66369030	T	C	18	68701793	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.9326899608978	0.51
18	66369030	T	G	18	68701793	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.01395863035826E-4	0.07
18	66369031	G	A	18	68701794	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.62279621485456E-4	0.01
18	66369031	G	C	18	68701794	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.24367853480807E-4	0.014
18	66369031	G	T	18	68701794	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.62279621485456E-4	0.016
18	66369032	A	C	18	68701795	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999930275565674	0.976
18	66369032	A	G	18	68701795	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00705929640154072	0.078
18	66369032	A	T	18	68701795	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0149509435493951	0.188
18	66369033	T	A	18	68701796	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.1086712430986E-4	0.012
18	66369033	T	C	18	68701796	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.99739375982972E-4	0.008
18	66369033	T	G	18	68701796	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.46970742477747E-4	0.02
18	66369034	A	C	18	68701797	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00349881838641137	0.042
18	66369034	A	G	18	68701797	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.29891389607008E-4	0.076
18	66369034	A	T	18	68701797	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00815029525877237	0.088
18	66369035	A	C	18	68701798	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.925028087814596	0.526
18	66369035	A	G	18	68701798	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.156077709776339	0.422
18	66369035	A	T	18	68701798	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.956517155218578	0.61
18	66369036	G	A	18	68701799	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.735515813818095	0.55
18	66369036	G	C	18	68701799	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.364717992464159	0.398
18	66369036	G	T	18	68701799	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.560634217580028	0.362
18	66369037	A	C	18	68701800	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.981674438839247	0.614
18	66369037	A	G	18	68701800	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.70243819957763	0.402
18	66369037	A	T	18	68701800	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.984739659898492	0.66
18	66369038	A	C	18	68701801	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0271136688299923	0.274
18	66369038	A	G	18	68701801	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00638100530840318	0.154
18	66369038	A	T	18	68701801	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0403765849321863	0.454
18	66369039	A	C	18	68701802	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.967935059242639	0.564
18	66369039	A	G	18	68701802	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.811931433762641	0.506
18	66369039	A	T	18	68701802	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.962940974772693	0.616
18	66373644	G	A	18	68706407	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000544714:exon5:c.C267T:p.N89N;	1.13286197146302E-4	0.02
18	66373644	G	C	18	68706407	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000544714:exon5:c.C267G:p.N89K;	6.19654958573966E-5	0.02
18	66373644	G	T	18	68706407	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000544714:exon5:c.C267A:p.N89K;	6.19654958573966E-5	0.02
18	66373645	T	A	18	68706408	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000544714:exon5:c.A266T:p.N89I;	1.73686617846189E-5	0.004
18	66373645	T	C	18	68706408	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000544714:exon5:c.A266G:p.N89S;	1.73686617846189E-5	0.004
18	66373645	T	G	18	68706408	n	y	intronic	TMX3	.	.	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000544714:exon5:c.A266C:p.N89T;	1.73686617846189E-5	0.004
18	66373646	C	A	18	68706409	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000544714:exon6:c.266-1G>T)	.	.	9.57123356397867E-5	0.016
18	66373646	C	G	18	68706409	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000544714:exon6:c.266-1G>C)	.	.	6.19654958573966E-5	0.034
18	66373646	C	T	18	68706409	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000544714:exon6:c.266-1G>A)	.	.	9.57123356397867E-5	0.01
18	66373647	T	A	18	68706410	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000544714:exon6:c.266-2A>T)	.	.	2.68284073685752E-5	0.004
18	66373647	T	C	18	68706410	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000544714:exon6:c.266-2A>G)	.	.	2.68284073685752E-5	0.004
18	66373647	T	G	18	68706410	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479(ENST00000544714:exon6:c.266-2A>C)	.	.	2.68284073685752E-5	0.004
18	66373648	C	A	18	68706411	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.19654958573966E-5	0.02
18	66373648	C	G	18	68706411	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.13286197146302E-4	0.02
18	66373648	C	T	18	68706411	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.19654958573966E-5	0.02
18	66373649	A	C	18	68706412	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.73686617846189E-5	0.004
18	66373649	A	G	18	68706412	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.73686617846189E-5	0.004
18	66373649	A	T	18	68706412	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.73686617846189E-5	0.004
18	66373650	A	C	18	68706413	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.73686617846189E-5	0.004
18	66373650	A	G	18	68706413	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.73686617846189E-5	0.004
18	66373650	A	T	18	68706413	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.73686617846189E-5	0.004
18	66373651	A	C	18	68706414	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.45277156108894E-5	0.002
18	66373651	A	G	18	68706414	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.45277156108894E-5	0.002
18	66373651	A	T	18	68706414	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.45277156108894E-5	0.002
18	66373652	A	C	18	68706415	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373652	A	G	18	68706415	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373652	A	T	18	68706415	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373653	A	C	18	68706416	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373653	A	G	18	68706416	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373653	A	T	18	68706416	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373654	A	C	18	68706417	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373654	A	G	18	68706417	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373654	A	T	18	68706417	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373655	A	C	18	68706418	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373655	A	G	18	68706418	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373655	A	T	18	68706418	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373656	T	A	18	68706419	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.30338091304305E-5	0.002
18	66373656	T	C	18	68706419	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.30338091304305E-5	0.002
18	66373656	T	G	18	68706419	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.30338091304305E-5	0.002
18	66373657	A	C	18	68706420	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373657	A	G	18	68706420	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66373657	A	T	18	68706420	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.70357316916945E-5	0.0
18	66377250	A	C	18	68710013	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.27020156354161E-4	0.004
18	66377250	A	G	18	68710013	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.43723941091149E-4	0.002
18	66377250	A	T	18	68710013	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.44466263254541E-4	0.064
18	66377251	G	A	18	68710014	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.87428578418945E-4	0.07
18	66377251	G	C	18	68710014	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.00685211095907E-5	0.0
18	66377251	G	T	18	68710014	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.69604603554214E-4	0.008
18	66377252	G	A	18	68710015	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.98194958789335E-4	0.044
18	66377252	G	C	18	68710015	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.80803860555419E-5	0.102
18	66377252	G	T	18	68710015	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.62714306069512E-4	0.146
18	66377253	C	A	18	68710016	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999990101565039	0.988
18	66377253	C	G	18	68710016	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999992898814656	0.99
18	66377253	C	T	18	68710016	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999993879889177	0.996
18	66377254	T	A	18	68710017	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998936921567	0.908
18	66377254	T	C	18	68710017	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999175576308153	0.942
18	66377254	T	G	18	68710017	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999501029067539	0.944
18	66377255	T	A	18	68710018	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999816190029082	0.966
18	66377255	T	C	18	68710018	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.995018501509699	0.678
18	66377255	T	G	18	68710018	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99957405523524	0.962
18	66377256	A	C	18	68710019	y	y	splicing	TMX3(NM_019022:exon5:c.265+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.265+2T>G;ENST00000564631:exon5:c.265+2T>G;ENST00000569053:exon5:c.265+2T>G;ENST00000443099:exon5:c.265+2T>G;ENST00000562706:exon5:c.265+2T>G;ENST00000565918:exon5:c.265+2T>G;ENST00000569982:exon5:c.205+2T>G;ENST00000544714:exon5:c.265+2T>G)	.	.	0.999988247793601	0.928
18	66377256	A	G	18	68710019	y	y	splicing	TMX3(NM_019022:exon5:c.265+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.265+2T>C;ENST00000564631:exon5:c.265+2T>C;ENST00000569053:exon5:c.265+2T>C;ENST00000443099:exon5:c.265+2T>C;ENST00000562706:exon5:c.265+2T>C;ENST00000565918:exon5:c.265+2T>C;ENST00000569982:exon5:c.205+2T>C;ENST00000544714:exon5:c.265+2T>C)	.	.	0.999897703382408	0.872
18	66377256	A	T	18	68710019	y	y	splicing	TMX3(NM_019022:exon5:c.265+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.265+2T>A;ENST00000564631:exon5:c.265+2T>A;ENST00000569053:exon5:c.265+2T>A;ENST00000443099:exon5:c.265+2T>A;ENST00000562706:exon5:c.265+2T>A;ENST00000565918:exon5:c.265+2T>A;ENST00000569982:exon5:c.205+2T>A;ENST00000544714:exon5:c.265+2T>A)	.	.	0.999988247793601	0.928
18	66377257	C	A	18	68710020	y	y	splicing	TMX3(NM_019022:exon5:c.265+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.265+1G>T;ENST00000564631:exon5:c.265+1G>T;ENST00000569053:exon5:c.265+1G>T;ENST00000443099:exon5:c.265+1G>T;ENST00000562706:exon5:c.265+1G>T;ENST00000565918:exon5:c.265+1G>T;ENST00000569982:exon5:c.205+1G>T;ENST00000544714:exon5:c.265+1G>T)	.	.	0.999986675681007	0.932
18	66377257	C	G	18	68710020	y	y	splicing	TMX3(NM_019022:exon5:c.265+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.265+1G>C;ENST00000564631:exon5:c.265+1G>C;ENST00000569053:exon5:c.265+1G>C;ENST00000443099:exon5:c.265+1G>C;ENST00000562706:exon5:c.265+1G>C;ENST00000565918:exon5:c.265+1G>C;ENST00000569982:exon5:c.205+1G>C;ENST00000544714:exon5:c.265+1G>C)	.	.	0.999986675681007	0.932
18	66377257	C	T	18	68710020	y	y	splicing	TMX3(NM_019022:exon5:c.265+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.265+1G>A;ENST00000564631:exon5:c.265+1G>A;ENST00000569053:exon5:c.265+1G>A;ENST00000443099:exon5:c.265+1G>A;ENST00000562706:exon5:c.265+1G>A;ENST00000565918:exon5:c.265+1G>A;ENST00000569982:exon5:c.205+1G>A;ENST00000544714:exon5:c.265+1G>A)	.	.	0.999986675681007	0.932
18	66377258	T	A	18	68710021	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.A265T:p.S89C;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.A265T:p.S89C;ENSG00000166479:ENST00000562706:exon4:c.A265T:p.S89C;ENSG00000166479:ENST00000565918:exon4:c.A265T:p.S89C;ENSG00000166479:ENST00000569982:exon4:c.A205T:p.N69Y;ENSG00000166479:ENST00000564631:exon4:c.A265T:p.N89Y;ENSG00000166479:ENST00000544714:exon4:c.A265T:p.N89Y;ENSG00000166479:ENST00000569053:exon4:c.A265T:p.N89Y;ENSG00000166479:ENST00000299608:exon4:c.A265T:p.S89C;	0.00275270958744847	0.172
18	66377258	T	C	18	68710021	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.A265G:p.S89G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.A265G:p.S89G;ENSG00000166479:ENST00000562706:exon4:c.A265G:p.S89G;ENSG00000166479:ENST00000565918:exon4:c.A265G:p.S89G;ENSG00000166479:ENST00000569982:exon4:c.A205G:p.N69D;ENSG00000166479:ENST00000564631:exon4:c.A265G:p.N89D;ENSG00000166479:ENST00000544714:exon4:c.A265G:p.N89D;ENSG00000166479:ENST00000569053:exon4:c.A265G:p.N89D;ENSG00000166479:ENST00000299608:exon4:c.A265G:p.S89G;	0.00107223355135522	0.108
18	66377258	T	G	18	68710021	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.A265C:p.S89R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.A265C:p.S89R;ENSG00000166479:ENST00000562706:exon4:c.A265C:p.S89R;ENSG00000166479:ENST00000565918:exon4:c.A265C:p.S89R;ENSG00000166479:ENST00000569982:exon4:c.A205C:p.N69H;ENSG00000166479:ENST00000564631:exon4:c.A265C:p.N89H;ENSG00000166479:ENST00000544714:exon4:c.A265C:p.N89H;ENSG00000166479:ENST00000569053:exon4:c.A265C:p.N89H;ENSG00000166479:ENST00000299608:exon4:c.A265C:p.S89R;	0.00142915684576687	0.104
18	66377259	A	C	18	68710022	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon4:c.T264G:p.S88S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T264G:p.S88S;ENSG00000166479:ENST00000562706:exon4:c.T264G:p.S88S;ENSG00000166479:ENST00000565918:exon4:c.T264G:p.S88S;ENSG00000166479:ENST00000569982:exon4:c.T204G:p.S68S;ENSG00000166479:ENST00000564631:exon4:c.T264G:p.S88S;ENSG00000166479:ENST00000544714:exon4:c.T264G:p.S88S;ENSG00000166479:ENST00000569053:exon4:c.T264G:p.S88S;ENSG00000166479:ENST00000299608:exon4:c.T264G:p.S88S;	1.69472094404022E-4	0.034
18	66377259	A	G	18	68710022	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon4:c.T264C:p.S88S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T264C:p.S88S;ENSG00000166479:ENST00000562706:exon4:c.T264C:p.S88S;ENSG00000166479:ENST00000565918:exon4:c.T264C:p.S88S;ENSG00000166479:ENST00000569982:exon4:c.T204C:p.S68S;ENSG00000166479:ENST00000564631:exon4:c.T264C:p.S88S;ENSG00000166479:ENST00000544714:exon4:c.T264C:p.S88S;ENSG00000166479:ENST00000569053:exon4:c.T264C:p.S88S;ENSG00000166479:ENST00000299608:exon4:c.T264C:p.S88S;	3.01221806309485E-5	0.0
18	66377259	A	T	18	68710022	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon4:c.T264A:p.S88S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T264A:p.S88S;ENSG00000166479:ENST00000562706:exon4:c.T264A:p.S88S;ENSG00000166479:ENST00000565918:exon4:c.T264A:p.S88S;ENSG00000166479:ENST00000569982:exon4:c.T204A:p.S68S;ENSG00000166479:ENST00000564631:exon4:c.T264A:p.S88S;ENSG00000166479:ENST00000544714:exon4:c.T264A:p.S88S;ENSG00000166479:ENST00000569053:exon4:c.T264A:p.S88S;ENSG00000166479:ENST00000299608:exon4:c.T264A:p.S88S;	5.53961975611432E-5	0.112
18	66377260	G	A	18	68710023	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.C263T:p.S88F;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.C263T:p.S88F;ENSG00000166479:ENST00000562706:exon4:c.C263T:p.S88F;ENSG00000166479:ENST00000565918:exon4:c.C263T:p.S88F;ENSG00000166479:ENST00000569982:exon4:c.C203T:p.S68F;ENSG00000166479:ENST00000564631:exon4:c.C263T:p.S88F;ENSG00000166479:ENST00000544714:exon4:c.C263T:p.S88F;ENSG00000166479:ENST00000569053:exon4:c.C263T:p.S88F;ENSG00000166479:ENST00000299608:exon4:c.C263T:p.S88F;	0.999646969969472	0.944
18	66377260	G	C	18	68710023	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.C263G:p.S88C;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.C263G:p.S88C;ENSG00000166479:ENST00000562706:exon4:c.C263G:p.S88C;ENSG00000166479:ENST00000565918:exon4:c.C263G:p.S88C;ENSG00000166479:ENST00000569982:exon4:c.C203G:p.S68C;ENSG00000166479:ENST00000564631:exon4:c.C263G:p.S88C;ENSG00000166479:ENST00000544714:exon4:c.C263G:p.S88C;ENSG00000166479:ENST00000569053:exon4:c.C263G:p.S88C;ENSG00000166479:ENST00000299608:exon4:c.C263G:p.S88C;	0.955689669563998	0.678
18	66377260	G	T	18	68710023	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.C263A:p.S88Y;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.C263A:p.S88Y;ENSG00000166479:ENST00000562706:exon4:c.C263A:p.S88Y;ENSG00000166479:ENST00000565918:exon4:c.C263A:p.S88Y;ENSG00000166479:ENST00000569982:exon4:c.C203A:p.S68Y;ENSG00000166479:ENST00000564631:exon4:c.C263A:p.S88Y;ENSG00000166479:ENST00000544714:exon4:c.C263A:p.S88Y;ENSG00000166479:ENST00000569053:exon4:c.C263A:p.S88Y;ENSG00000166479:ENST00000299608:exon4:c.C263A:p.S88Y;	0.915891596463687	0.794
18	66377380	A	C	18	68710143	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.T143G:p.F48C;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T143G:p.F48C;ENSG00000166479:ENST00000562706:exon4:c.T143G:p.F48C;ENSG00000166479:ENST00000565918:exon4:c.T143G:p.F48C;ENSG00000166479:ENST00000569982:exon4:c.T83G:p.F28C;ENSG00000166479:ENST00000564631:exon4:c.T143G:p.F48C;ENSG00000166479:ENST00000544714:exon4:c.T143G:p.F48C;ENSG00000166479:ENST00000569053:exon4:c.T143G:p.F48C;ENSG00000166479:ENST00000299608:exon4:c.T143G:p.F48C;	0.234422447802395	0.348
18	66377380	A	G	18	68710143	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.T143C:p.F48S;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T143C:p.F48S;ENSG00000166479:ENST00000562706:exon4:c.T143C:p.F48S;ENSG00000166479:ENST00000565918:exon4:c.T143C:p.F48S;ENSG00000166479:ENST00000569982:exon4:c.T83C:p.F28S;ENSG00000166479:ENST00000564631:exon4:c.T143C:p.F48S;ENSG00000166479:ENST00000544714:exon4:c.T143C:p.F48S;ENSG00000166479:ENST00000569053:exon4:c.T143C:p.F48S;ENSG00000166479:ENST00000299608:exon4:c.T143C:p.F48S;	0.189999570738134	0.44
18	66377380	A	T	18	68710143	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.T143A:p.F48Y;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T143A:p.F48Y;ENSG00000166479:ENST00000562706:exon4:c.T143A:p.F48Y;ENSG00000166479:ENST00000565918:exon4:c.T143A:p.F48Y;ENSG00000166479:ENST00000569982:exon4:c.T83A:p.F28Y;ENSG00000166479:ENST00000564631:exon4:c.T143A:p.F48Y;ENSG00000166479:ENST00000544714:exon4:c.T143A:p.F48Y;ENSG00000166479:ENST00000569053:exon4:c.T143A:p.F48Y;ENSG00000166479:ENST00000299608:exon4:c.T143A:p.F48Y;	0.277473247550622	0.434
18	66377381	A	C	18	68710144	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.T142G:p.F48V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T142G:p.F48V;ENSG00000166479:ENST00000562706:exon4:c.T142G:p.F48V;ENSG00000166479:ENST00000565918:exon4:c.T142G:p.F48V;ENSG00000166479:ENST00000569982:exon4:c.T82G:p.F28V;ENSG00000166479:ENST00000564631:exon4:c.T142G:p.F48V;ENSG00000166479:ENST00000544714:exon4:c.T142G:p.F48V;ENSG00000166479:ENST00000569053:exon4:c.T142G:p.F48V;ENSG00000166479:ENST00000299608:exon4:c.T142G:p.F48V;	0.561358001815428	0.644
18	66377381	A	G	18	68710144	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.T142C:p.F48L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T142C:p.F48L;ENSG00000166479:ENST00000562706:exon4:c.T142C:p.F48L;ENSG00000166479:ENST00000565918:exon4:c.T142C:p.F48L;ENSG00000166479:ENST00000569982:exon4:c.T82C:p.F28L;ENSG00000166479:ENST00000564631:exon4:c.T142C:p.F48L;ENSG00000166479:ENST00000544714:exon4:c.T142C:p.F48L;ENSG00000166479:ENST00000569053:exon4:c.T142C:p.F48L;ENSG00000166479:ENST00000299608:exon4:c.T142C:p.F48L;	0.645380140971294	0.7
18	66377381	A	T	18	68710144	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon4:c.T142A:p.F48I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon4:c.T142A:p.F48I;ENSG00000166479:ENST00000562706:exon4:c.T142A:p.F48I;ENSG00000166479:ENST00000565918:exon4:c.T142A:p.F48I;ENSG00000166479:ENST00000569982:exon4:c.T82A:p.F28I;ENSG00000166479:ENST00000564631:exon4:c.T142A:p.F48I;ENSG00000166479:ENST00000544714:exon4:c.T142A:p.F48I;ENSG00000166479:ENST00000569053:exon4:c.T142A:p.F48I;ENSG00000166479:ENST00000299608:exon4:c.T142A:p.F48I;	0.439458595046243	0.68
18	66377382	C	A	18	68710145	y	y	splicing	TMX3(NM_019022:exon5:c.142-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.142-1G>T;ENST00000564631:exon5:c.142-1G>T;ENST00000569053:exon5:c.142-1G>T;ENST00000443099:exon5:c.142-1G>T;ENST00000562706:exon5:c.142-1G>T;ENST00000565918:exon5:c.142-1G>T;ENST00000569982:exon5:c.82-1G>T;ENST00000544714:exon5:c.142-1G>T)	.	.	0.999983347500877	0.858
18	66377382	C	G	18	68710145	y	y	splicing	TMX3(NM_019022:exon5:c.142-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.142-1G>C;ENST00000564631:exon5:c.142-1G>C;ENST00000569053:exon5:c.142-1G>C;ENST00000443099:exon5:c.142-1G>C;ENST00000562706:exon5:c.142-1G>C;ENST00000565918:exon5:c.142-1G>C;ENST00000569982:exon5:c.82-1G>C;ENST00000544714:exon5:c.142-1G>C)	.	.	0.999983347500877	0.858
18	66377382	C	T	18	68710145	y	y	splicing	TMX3(NM_019022:exon5:c.142-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.142-1G>A;ENST00000564631:exon5:c.142-1G>A;ENST00000569053:exon5:c.142-1G>A;ENST00000443099:exon5:c.142-1G>A;ENST00000562706:exon5:c.142-1G>A;ENST00000565918:exon5:c.142-1G>A;ENST00000569982:exon5:c.82-1G>A;ENST00000544714:exon5:c.142-1G>A)	.	.	0.999983347500877	0.86
18	66377383	T	A	18	68710146	y	y	splicing	TMX3(NM_019022:exon5:c.142-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.142-2A>T;ENST00000564631:exon5:c.142-2A>T;ENST00000569053:exon5:c.142-2A>T;ENST00000443099:exon5:c.142-2A>T;ENST00000562706:exon5:c.142-2A>T;ENST00000565918:exon5:c.142-2A>T;ENST00000569982:exon5:c.82-2A>T;ENST00000544714:exon5:c.142-2A>T)	.	.	0.999941321529225	0.868
18	66377383	T	C	18	68710146	y	y	splicing	TMX3(NM_019022:exon5:c.142-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.142-2A>G;ENST00000564631:exon5:c.142-2A>G;ENST00000569053:exon5:c.142-2A>G;ENST00000443099:exon5:c.142-2A>G;ENST00000562706:exon5:c.142-2A>G;ENST00000565918:exon5:c.142-2A>G;ENST00000569982:exon5:c.82-2A>G;ENST00000544714:exon5:c.142-2A>G)	.	.	0.999941321529225	0.868
18	66377383	T	G	18	68710146	y	y	splicing	TMX3(NM_019022:exon5:c.142-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon5:c.142-2A>C;ENST00000564631:exon5:c.142-2A>C;ENST00000569053:exon5:c.142-2A>C;ENST00000443099:exon5:c.142-2A>C;ENST00000562706:exon5:c.142-2A>C;ENST00000565918:exon5:c.142-2A>C;ENST00000569982:exon5:c.82-2A>C;ENST00000544714:exon5:c.142-2A>C)	.	.	0.999941321529225	0.868
18	66377384	T	A	18	68710147	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.15261762382869E-4	0.038
18	66377384	T	C	18	68710147	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0145585574422871	0.26
18	66377384	T	G	18	68710147	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.63208442140866E-4	0.104
18	66377385	G	A	18	68710148	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.39317376404059E-5	0.148
18	66377385	G	C	18	68710148	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999554878241966	0.972
18	66377385	G	T	18	68710148	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.39317376404059E-5	0.158
18	66377386	T	A	18	68710149	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.49193166582551E-4	0.11
18	66377386	T	C	18	68710149	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998788398514729	0.976
18	66377386	T	G	18	68710149	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.11333431836645E-5	0.036
18	66377387	T	A	18	68710150	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.17646359299438E-5	0.066
18	66377387	T	C	18	68710150	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99764488872711	0.956
18	66377387	T	G	18	68710150	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.18896463079543E-5	0.118
18	66377388	T	A	18	68710151	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.69943948380935E-5	0.034
18	66377388	T	C	18	68710151	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.708494596313801	0.622
18	66377388	T	G	18	68710151	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.69943948380935E-5	0.018
18	66377389	T	A	18	68710152	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.62490342280886E-5	0.042
18	66377389	T	C	18	68710152	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.66794449145124E-4	0.16
18	66377389	T	G	18	68710152	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.62490342280886E-5	0.024
18	66377390	A	C	18	68710153	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.832835626456785	0.542
18	66377390	A	G	18	68710153	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.10620471733884E-4	0.104
18	66377390	A	T	18	68710153	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.758444283735623	0.582
18	66377391	A	C	18	68710154	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.54244175689814	0.494
18	66377391	A	G	18	68710154	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.13102246964864E-5	0.074
18	66377391	A	T	18	68710154	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.781680635619941	0.492
18	66377392	A	C	18	68710155	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.016105397526933	0.348
18	66377392	A	G	18	68710155	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.10770255668583E-5	0.096
18	66377392	A	T	18	68710155	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.432229423831742	0.398
18	66377393	A	C	18	68710156	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0139234153200568	0.344
18	66377393	A	G	18	68710156	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.67710841676172E-4	0.028
18	66377393	A	T	18	68710156	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.377309322792036	0.438
18	66378593	A	C	18	68711356	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.54680566844095E-4	0.0
18	66378593	A	G	18	68711356	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.54680566844095E-4	0.004
18	66378593	A	T	18	68711356	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.62946486530403E-4	0.008
18	66378594	T	A	18	68711357	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0307567987921482	0.172
18	66378594	T	C	18	68711357	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.040643077801278	0.126
18	66378594	T	G	18	68711357	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0418940510983399	0.154
18	66378595	A	C	18	68711358	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.761920745764936	0.574
18	66378595	A	G	18	68711358	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.622690051503457	0.636
18	66378595	A	T	18	68711358	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.911856490655963	0.65
18	66378596	C	A	18	68711359	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999956941176677	0.972
18	66378596	C	G	18	68711359	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998383513214314	0.952
18	66378596	C	T	18	68711359	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999899190638911	0.954
18	66378597	T	A	18	68711360	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.997568332079056	0.902
18	66378597	T	C	18	68711360	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.997605241558109	0.958
18	66378597	T	G	18	68711360	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.997063314154938	0.918
18	66378598	T	A	18	68711361	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99952093918414	0.844
18	66378598	T	C	18	68711361	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0103035680998274	0.268
18	66378598	T	G	18	68711361	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.99882435318078	0.818
18	66378599	A	C	18	68711362	y	y	splicing	TMX3(NM_019022:exon4:c.141+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.141+2T>G;ENST00000564631:exon4:c.141+2T>G;ENST00000569053:exon4:c.141+2T>G;ENST00000443099:exon4:c.141+2T>G;ENST00000562706:exon4:c.141+2T>G;ENST00000565918:exon4:c.141+2T>G;ENST00000564008:exon4:c.141+2T>G;ENST00000569982:exon4:c.81+2T>G;ENST00000544714:exon4:c.141+2T>G)	.	.	0.999989917668626	0.926
18	66378599	A	G	18	68711362	y	y	splicing	TMX3(NM_019022:exon4:c.141+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.141+2T>C;ENST00000564631:exon4:c.141+2T>C;ENST00000569053:exon4:c.141+2T>C;ENST00000443099:exon4:c.141+2T>C;ENST00000562706:exon4:c.141+2T>C;ENST00000565918:exon4:c.141+2T>C;ENST00000564008:exon4:c.141+2T>C;ENST00000569982:exon4:c.81+2T>C;ENST00000544714:exon4:c.141+2T>C)	.	.	0.98775897946918	0.61
18	66378599	A	T	18	68711362	y	y	splicing	TMX3(NM_019022:exon4:c.141+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.141+2T>A;ENST00000564631:exon4:c.141+2T>A;ENST00000569053:exon4:c.141+2T>A;ENST00000443099:exon4:c.141+2T>A;ENST00000562706:exon4:c.141+2T>A;ENST00000565918:exon4:c.141+2T>A;ENST00000564008:exon4:c.141+2T>A;ENST00000569982:exon4:c.81+2T>A;ENST00000544714:exon4:c.141+2T>A)	.	.	0.999989917668626	0.928
18	66378600	C	A	18	68711363	y	y	splicing	TMX3(NM_019022:exon4:c.141+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.141+1G>T;ENST00000564631:exon4:c.141+1G>T;ENST00000569053:exon4:c.141+1G>T;ENST00000443099:exon4:c.141+1G>T;ENST00000562706:exon4:c.141+1G>T;ENST00000565918:exon4:c.141+1G>T;ENST00000564008:exon4:c.141+1G>T;ENST00000569982:exon4:c.81+1G>T;ENST00000544714:exon4:c.141+1G>T)	.	.	0.999981760802075	0.938
18	66378600	C	G	18	68711363	y	y	splicing	TMX3(NM_019022:exon4:c.141+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.141+1G>C;ENST00000564631:exon4:c.141+1G>C;ENST00000569053:exon4:c.141+1G>C;ENST00000443099:exon4:c.141+1G>C;ENST00000562706:exon4:c.141+1G>C;ENST00000565918:exon4:c.141+1G>C;ENST00000564008:exon4:c.141+1G>C;ENST00000569982:exon4:c.81+1G>C;ENST00000544714:exon4:c.141+1G>C)	.	.	0.999981760802075	0.938
18	66378600	C	T	18	68711363	y	y	splicing	TMX3(NM_019022:exon4:c.141+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.141+1G>A;ENST00000564631:exon4:c.141+1G>A;ENST00000569053:exon4:c.141+1G>A;ENST00000443099:exon4:c.141+1G>A;ENST00000562706:exon4:c.141+1G>A;ENST00000565918:exon4:c.141+1G>A;ENST00000564008:exon4:c.141+1G>A;ENST00000569982:exon4:c.81+1G>A;ENST00000544714:exon4:c.141+1G>A)	.	.	0.999981760802075	0.938
18	66378601	A	C	18	68711364	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.T141G:p.D47E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.T141G:p.D47E;ENSG00000166479:ENST00000562706:exon3:c.T141G:p.D47E;ENSG00000166479:ENST00000564008:exon3:c.T141G:p.D47E;ENSG00000166479:ENST00000565918:exon3:c.T141G:p.D47E;ENSG00000166479:ENST00000569982:exon3:c.T81G:p.D27E;ENSG00000166479:ENST00000564631:exon3:c.T141G:p.D47E;ENSG00000166479:ENST00000544714:exon3:c.T141G:p.D47E;ENSG00000166479:ENST00000569053:exon3:c.T141G:p.D47E;ENSG00000166479:ENST00000299608:exon3:c.T141G:p.D47E;	1.30650625575547E-4	0.056
18	66378601	A	G	18	68711364	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon3:c.T141C:p.D47D;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.T141C:p.D47D;ENSG00000166479:ENST00000562706:exon3:c.T141C:p.D47D;ENSG00000166479:ENST00000564008:exon3:c.T141C:p.D47D;ENSG00000166479:ENST00000565918:exon3:c.T141C:p.D47D;ENSG00000166479:ENST00000569982:exon3:c.T81C:p.D27D;ENSG00000166479:ENST00000564631:exon3:c.T141C:p.D47D;ENSG00000166479:ENST00000544714:exon3:c.T141C:p.D47D;ENSG00000166479:ENST00000569053:exon3:c.T141C:p.D47D;ENSG00000166479:ENST00000299608:exon3:c.T141C:p.D47D;	0.595521165901252	0.716
18	66378601	A	T	18	68711364	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.T141A:p.D47E;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.T141A:p.D47E;ENSG00000166479:ENST00000562706:exon3:c.T141A:p.D47E;ENSG00000166479:ENST00000564008:exon3:c.T141A:p.D47E;ENSG00000166479:ENST00000565918:exon3:c.T141A:p.D47E;ENSG00000166479:ENST00000569982:exon3:c.T81A:p.D27E;ENSG00000166479:ENST00000564631:exon3:c.T141A:p.D47E;ENSG00000166479:ENST00000544714:exon3:c.T141A:p.D47E;ENSG00000166479:ENST00000569053:exon3:c.T141A:p.D47E;ENSG00000166479:ENST00000299608:exon3:c.T141A:p.D47E;	0.00113388827311013	0.01
18	66378602	T	A	18	68711365	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.A140T:p.D47V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.A140T:p.D47V;ENSG00000166479:ENST00000562706:exon3:c.A140T:p.D47V;ENSG00000166479:ENST00000564008:exon3:c.A140T:p.D47V;ENSG00000166479:ENST00000565918:exon3:c.A140T:p.D47V;ENSG00000166479:ENST00000569982:exon3:c.A80T:p.D27V;ENSG00000166479:ENST00000564631:exon3:c.A140T:p.D47V;ENSG00000166479:ENST00000544714:exon3:c.A140T:p.D47V;ENSG00000166479:ENST00000569053:exon3:c.A140T:p.D47V;ENSG00000166479:ENST00000299608:exon3:c.A140T:p.D47V;	0.994198249253325	0.86
18	66378602	T	C	18	68711365	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.A140G:p.D47G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.A140G:p.D47G;ENSG00000166479:ENST00000562706:exon3:c.A140G:p.D47G;ENSG00000166479:ENST00000564008:exon3:c.A140G:p.D47G;ENSG00000166479:ENST00000565918:exon3:c.A140G:p.D47G;ENSG00000166479:ENST00000569982:exon3:c.A80G:p.D27G;ENSG00000166479:ENST00000564631:exon3:c.A140G:p.D47G;ENSG00000166479:ENST00000544714:exon3:c.A140G:p.D47G;ENSG00000166479:ENST00000569053:exon3:c.A140G:p.D47G;ENSG00000166479:ENST00000299608:exon3:c.A140G:p.D47G;	0.9938178047591	0.868
18	66378602	T	G	18	68711365	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.A140C:p.D47A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.A140C:p.D47A;ENSG00000166479:ENST00000562706:exon3:c.A140C:p.D47A;ENSG00000166479:ENST00000564008:exon3:c.A140C:p.D47A;ENSG00000166479:ENST00000565918:exon3:c.A140C:p.D47A;ENSG00000166479:ENST00000569982:exon3:c.A80C:p.D27A;ENSG00000166479:ENST00000564631:exon3:c.A140C:p.D47A;ENSG00000166479:ENST00000544714:exon3:c.A140C:p.D47A;ENSG00000166479:ENST00000569053:exon3:c.A140C:p.D47A;ENSG00000166479:ENST00000299608:exon3:c.A140C:p.D47A;	0.991871363817682	0.942
18	66378603	C	A	18	68711366	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.G139T:p.D47Y;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.G139T:p.D47Y;ENSG00000166479:ENST00000562706:exon3:c.G139T:p.D47Y;ENSG00000166479:ENST00000564008:exon3:c.G139T:p.D47Y;ENSG00000166479:ENST00000565918:exon3:c.G139T:p.D47Y;ENSG00000166479:ENST00000569982:exon3:c.G79T:p.D27Y;ENSG00000166479:ENST00000564631:exon3:c.G139T:p.D47Y;ENSG00000166479:ENST00000544714:exon3:c.G139T:p.D47Y;ENSG00000166479:ENST00000569053:exon3:c.G139T:p.D47Y;ENSG00000166479:ENST00000299608:exon3:c.G139T:p.D47Y;	0.965816001818825	0.77
18	66378603	C	G	18	68711366	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.G139C:p.D47H;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.G139C:p.D47H;ENSG00000166479:ENST00000562706:exon3:c.G139C:p.D47H;ENSG00000166479:ENST00000564008:exon3:c.G139C:p.D47H;ENSG00000166479:ENST00000565918:exon3:c.G139C:p.D47H;ENSG00000166479:ENST00000569982:exon3:c.G79C:p.D27H;ENSG00000166479:ENST00000564631:exon3:c.G139C:p.D47H;ENSG00000166479:ENST00000544714:exon3:c.G139C:p.D47H;ENSG00000166479:ENST00000569053:exon3:c.G139C:p.D47H;ENSG00000166479:ENST00000299608:exon3:c.G139C:p.D47H;	0.93191545550945	0.758
18	66378603	C	T	18	68711366	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.G139A:p.D47N;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.G139A:p.D47N;ENSG00000166479:ENST00000562706:exon3:c.G139A:p.D47N;ENSG00000166479:ENST00000564008:exon3:c.G139A:p.D47N;ENSG00000166479:ENST00000565918:exon3:c.G139A:p.D47N;ENSG00000166479:ENST00000569982:exon3:c.G79A:p.D27N;ENSG00000166479:ENST00000564631:exon3:c.G139A:p.D47N;ENSG00000166479:ENST00000544714:exon3:c.G139A:p.D47N;ENSG00000166479:ENST00000569053:exon3:c.G139A:p.D47N;ENSG00000166479:ENST00000299608:exon3:c.G139A:p.D47N;	0.908114071620037	0.692
18	66378639	A	C	18	68711402	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.T103G:p.F35V;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.T103G:p.F35V;ENSG00000166479:ENST00000562706:exon3:c.T103G:p.F35V;ENSG00000166479:ENST00000564008:exon3:c.T103G:p.F35V;ENSG00000166479:ENST00000565918:exon3:c.T103G:p.F35V;ENSG00000166479:ENST00000569982:exon3:c.T43G:p.F15V;ENSG00000166479:ENST00000564631:exon3:c.T103G:p.F35V;ENSG00000166479:ENST00000544714:exon3:c.T103G:p.F35V;ENSG00000166479:ENST00000569053:exon3:c.T103G:p.F35V;ENSG00000166479:ENST00000299608:exon3:c.T103G:p.F35V;	0.219551145857029	0.508
18	66378639	A	G	18	68711402	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.T103C:p.F35L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.T103C:p.F35L;ENSG00000166479:ENST00000562706:exon3:c.T103C:p.F35L;ENSG00000166479:ENST00000564008:exon3:c.T103C:p.F35L;ENSG00000166479:ENST00000565918:exon3:c.T103C:p.F35L;ENSG00000166479:ENST00000569982:exon3:c.T43C:p.F15L;ENSG00000166479:ENST00000564631:exon3:c.T103C:p.F35L;ENSG00000166479:ENST00000544714:exon3:c.T103C:p.F35L;ENSG00000166479:ENST00000569053:exon3:c.T103C:p.F35L;ENSG00000166479:ENST00000299608:exon3:c.T103C:p.F35L;	0.218102136268336	0.534
18	66378639	A	T	18	68711402	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon3:c.T103A:p.F35I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.T103A:p.F35I;ENSG00000166479:ENST00000562706:exon3:c.T103A:p.F35I;ENSG00000166479:ENST00000564008:exon3:c.T103A:p.F35I;ENSG00000166479:ENST00000565918:exon3:c.T103A:p.F35I;ENSG00000166479:ENST00000569982:exon3:c.T43A:p.F15I;ENSG00000166479:ENST00000564631:exon3:c.T103A:p.F35I;ENSG00000166479:ENST00000544714:exon3:c.T103A:p.F35I;ENSG00000166479:ENST00000569053:exon3:c.T103A:p.F35I;ENSG00000166479:ENST00000299608:exon3:c.T103A:p.F35I;	0.201302095743839	0.532
18	66378640	C	A	18	68711403	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon3:c.G102T:p.S34S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.G102T:p.S34S;ENSG00000166479:ENST00000562706:exon3:c.G102T:p.S34S;ENSG00000166479:ENST00000564008:exon3:c.G102T:p.S34S;ENSG00000166479:ENST00000565918:exon3:c.G102T:p.S34S;ENSG00000166479:ENST00000569982:exon3:c.G42T:p.S14S;ENSG00000166479:ENST00000564631:exon3:c.G102T:p.S34S;ENSG00000166479:ENST00000544714:exon3:c.G102T:p.S34S;ENSG00000166479:ENST00000569053:exon3:c.G102T:p.S34S;ENSG00000166479:ENST00000299608:exon3:c.G102T:p.S34S;	0.0967540152631277	0.362
18	66378640	C	G	18	68711403	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon3:c.G102C:p.S34S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.G102C:p.S34S;ENSG00000166479:ENST00000562706:exon3:c.G102C:p.S34S;ENSG00000166479:ENST00000564008:exon3:c.G102C:p.S34S;ENSG00000166479:ENST00000565918:exon3:c.G102C:p.S34S;ENSG00000166479:ENST00000569982:exon3:c.G42C:p.S14S;ENSG00000166479:ENST00000564631:exon3:c.G102C:p.S34S;ENSG00000166479:ENST00000544714:exon3:c.G102C:p.S34S;ENSG00000166479:ENST00000569053:exon3:c.G102C:p.S34S;ENSG00000166479:ENST00000299608:exon3:c.G102C:p.S34S;	0.00566898842966322	0.154
18	66378640	C	T	18	68711403	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon3:c.G102A:p.S34S;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon3:c.G102A:p.S34S;ENSG00000166479:ENST00000562706:exon3:c.G102A:p.S34S;ENSG00000166479:ENST00000564008:exon3:c.G102A:p.S34S;ENSG00000166479:ENST00000565918:exon3:c.G102A:p.S34S;ENSG00000166479:ENST00000569982:exon3:c.G42A:p.S14S;ENSG00000166479:ENST00000564631:exon3:c.G102A:p.S34S;ENSG00000166479:ENST00000544714:exon3:c.G102A:p.S34S;ENSG00000166479:ENST00000569053:exon3:c.G102A:p.S34S;ENSG00000166479:ENST00000299608:exon3:c.G102A:p.S34S;	9.33301032249511E-4	0.148
18	66378641	C	A	18	68711404	y	y	splicing	TMX3(NM_019022:exon4:c.102-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.102-1G>T;ENST00000564631:exon4:c.102-1G>T;ENST00000569053:exon4:c.102-1G>T;ENST00000443099:exon4:c.102-1G>T;ENST00000562706:exon4:c.102-1G>T;ENST00000565918:exon4:c.102-1G>T;ENST00000564008:exon4:c.102-1G>T;ENST00000569982:exon4:c.42-1G>T;ENST00000544714:exon4:c.102-1G>T)	.	.	0.999981760802075	0.936
18	66378641	C	G	18	68711404	y	y	splicing	TMX3(NM_019022:exon4:c.102-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.102-1G>C;ENST00000564631:exon4:c.102-1G>C;ENST00000569053:exon4:c.102-1G>C;ENST00000443099:exon4:c.102-1G>C;ENST00000562706:exon4:c.102-1G>C;ENST00000565918:exon4:c.102-1G>C;ENST00000564008:exon4:c.102-1G>C;ENST00000569982:exon4:c.42-1G>C;ENST00000544714:exon4:c.102-1G>C)	.	.	0.999981760802075	0.936
18	66378641	C	T	18	68711404	y	y	splicing	TMX3(NM_019022:exon4:c.102-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.102-1G>A;ENST00000564631:exon4:c.102-1G>A;ENST00000569053:exon4:c.102-1G>A;ENST00000443099:exon4:c.102-1G>A;ENST00000562706:exon4:c.102-1G>A;ENST00000565918:exon4:c.102-1G>A;ENST00000564008:exon4:c.102-1G>A;ENST00000569982:exon4:c.42-1G>A;ENST00000544714:exon4:c.102-1G>A)	.	.	0.999981760802075	0.936
18	66378642	T	A	18	68711405	y	y	splicing	TMX3(NM_019022:exon4:c.102-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.102-2A>T;ENST00000564631:exon4:c.102-2A>T;ENST00000569053:exon4:c.102-2A>T;ENST00000443099:exon4:c.102-2A>T;ENST00000562706:exon4:c.102-2A>T;ENST00000565918:exon4:c.102-2A>T;ENST00000564008:exon4:c.102-2A>T;ENST00000569982:exon4:c.42-2A>T;ENST00000544714:exon4:c.102-2A>T)	.	.	0.999989917668626	0.926
18	66378642	T	C	18	68711405	y	y	splicing	TMX3(NM_019022:exon4:c.102-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.102-2A>G;ENST00000564631:exon4:c.102-2A>G;ENST00000569053:exon4:c.102-2A>G;ENST00000443099:exon4:c.102-2A>G;ENST00000562706:exon4:c.102-2A>G;ENST00000565918:exon4:c.102-2A>G;ENST00000564008:exon4:c.102-2A>G;ENST00000569982:exon4:c.42-2A>G;ENST00000544714:exon4:c.102-2A>G)	.	.	0.999989917668626	0.926
18	66378642	T	G	18	68711405	y	y	splicing	TMX3(NM_019022:exon4:c.102-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon4:c.102-2A>C;ENST00000564631:exon4:c.102-2A>C;ENST00000569053:exon4:c.102-2A>C;ENST00000443099:exon4:c.102-2A>C;ENST00000562706:exon4:c.102-2A>C;ENST00000565918:exon4:c.102-2A>C;ENST00000564008:exon4:c.102-2A>C;ENST00000569982:exon4:c.42-2A>C;ENST00000544714:exon4:c.102-2A>C)	.	.	0.999989917668626	0.926
18	66378643	A	C	18	68711406	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.794504425790393	0.562
18	66378643	A	G	18	68711406	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.06595457410537E-5	0.006
18	66378643	A	T	18	68711406	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.85389550988045E-4	0.054
18	66378644	A	C	18	68711407	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.32205425628711E-4	0.006
18	66378644	A	G	18	68711407	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.73363958403573E-5	0.004
18	66378644	A	T	18	68711407	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.3897716063539E-4	0.01
18	66378645	A	C	18	68711408	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00861814922794218	0.298
18	66378645	A	G	18	68711408	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00394298070248837	0.05
18	66378645	A	T	18	68711408	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.010881990715686	0.306
18	66378646	A	C	18	68711409	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0169400964727789	0.22
18	66378646	A	G	18	68711409	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00246610019222133	0.06
18	66378646	A	T	18	68711409	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0267518995133712	0.23
18	66378647	A	C	18	68711410	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.13551066696938E-4	0.04
18	66378647	A	G	18	68711410	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.30155695933652E-5	0.0
18	66378647	A	T	18	68711410	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.05645173076489E-4	0.028
18	66378648	A	C	18	68711411	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.08979958832266E-4	0.078
18	66378648	A	G	18	68711411	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.77127802617309E-4	0.036
18	66378648	A	T	18	68711411	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.70163460016406E-4	0.092
18	66378649	C	A	18	68711412	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.51032004643486E-5	0.006
18	66378649	C	G	18	68711412	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.95545558317252E-5	0.006
18	66378649	C	T	18	68711412	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.19918993409817E-5	0.008
18	66378650	A	C	18	68711413	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.298488606379169	0.51
18	66378650	A	G	18	68711413	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.123350270529377	0.35
18	66378650	A	T	18	68711413	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999718660210591	0.882
18	66378651	A	C	18	68711414	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.93205405437364E-5	0.102
18	66378651	A	G	18	68711414	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.60613435718324E-5	0.042
18	66378651	A	T	18	68711414	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.30500129622434E-5	0.092
18	66378652	G	A	18	68711415	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.15729515072697E-5	0.028
18	66378652	G	C	18	68711415	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.1251683110083E-5	0.028
18	66378652	G	T	18	68711415	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.0015660797993E-5	0.02
18	66381075	A	C	18	68713838	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00206428416867374	0.156
18	66381075	A	G	18	68713838	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.32904041166819E-4	0.024
18	66381075	A	T	18	68713838	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.44087565292295E-4	0.168
18	66381076	T	A	18	68713839	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.70917739094597E-4	0.068
18	66381076	T	C	18	68713839	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.04375917686578E-4	0.01
18	66381076	T	G	18	68713839	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.94480161963992E-4	0.01
18	66381077	A	C	18	68713840	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.997678036093796	0.928
18	66381077	A	G	18	68713840	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.994449563475308	0.978
18	66381077	A	T	18	68713840	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.997959487643074	0.854
18	66381078	C	A	18	68713841	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999932584120805	0.996
18	66381078	C	G	18	68713841	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999968449180234	0.982
18	66381078	C	T	18	68713841	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999907608882324	0.998
18	66381079	T	A	18	68713842	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999821171246429	0.926
18	66381079	T	C	18	68713842	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999717296285672	0.94
18	66381079	T	G	18	68713842	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.998662890597676	0.906
18	66381080	C	A	18	68713843	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999546444000521	0.754
18	66381080	C	G	18	68713843	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.995109168485287	0.746
18	66381080	C	T	18	68713843	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.97503651702036E-4	0.004
18	66381081	A	C	18	68713844	y	y	splicing	TMX3(NM_019022:exon3:c.101+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.101+2T>G;ENST00000564631:exon3:c.101+2T>G;ENST00000569053:exon3:c.101+2T>G;ENST00000443099:exon3:c.101+2T>G;ENST00000562706:exon3:c.101+2T>G;ENST00000565918:exon3:c.101+2T>G;ENST00000564008:exon3:c.101+2T>G;ENST00000569982:exon3:c.41+2T>G;ENST00000544714:exon3:c.101+2T>G)	.	.	0.999988247793601	0.926
18	66381081	A	G	18	68713844	y	y	splicing	TMX3(NM_019022:exon3:c.101+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.101+2T>C;ENST00000564631:exon3:c.101+2T>C;ENST00000569053:exon3:c.101+2T>C;ENST00000443099:exon3:c.101+2T>C;ENST00000562706:exon3:c.101+2T>C;ENST00000565918:exon3:c.101+2T>C;ENST00000564008:exon3:c.101+2T>C;ENST00000569982:exon3:c.41+2T>C;ENST00000544714:exon3:c.101+2T>C)	.	.	0.999929727175276	0.864
18	66381081	A	T	18	68713844	y	y	splicing	TMX3(NM_019022:exon3:c.101+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.101+2T>A;ENST00000564631:exon3:c.101+2T>A;ENST00000569053:exon3:c.101+2T>A;ENST00000443099:exon3:c.101+2T>A;ENST00000562706:exon3:c.101+2T>A;ENST00000565918:exon3:c.101+2T>A;ENST00000564008:exon3:c.101+2T>A;ENST00000569982:exon3:c.41+2T>A;ENST00000544714:exon3:c.101+2T>A)	.	.	0.999988247793601	0.926
18	66381082	C	A	18	68713845	y	y	splicing	TMX3(NM_019022:exon3:c.101+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.101+1G>T;ENST00000564631:exon3:c.101+1G>T;ENST00000569053:exon3:c.101+1G>T;ENST00000443099:exon3:c.101+1G>T;ENST00000562706:exon3:c.101+1G>T;ENST00000565918:exon3:c.101+1G>T;ENST00000564008:exon3:c.101+1G>T;ENST00000569982:exon3:c.41+1G>T;ENST00000544714:exon3:c.101+1G>T)	.	.	0.999985532734767	0.936
18	66381082	C	G	18	68713845	y	y	splicing	TMX3(NM_019022:exon3:c.101+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.101+1G>C;ENST00000564631:exon3:c.101+1G>C;ENST00000569053:exon3:c.101+1G>C;ENST00000443099:exon3:c.101+1G>C;ENST00000562706:exon3:c.101+1G>C;ENST00000565918:exon3:c.101+1G>C;ENST00000564008:exon3:c.101+1G>C;ENST00000569982:exon3:c.41+1G>C;ENST00000544714:exon3:c.101+1G>C)	.	.	0.999985532734767	0.936
18	66381082	C	T	18	68713845	y	y	splicing	TMX3(NM_019022:exon3:c.101+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.101+1G>A;ENST00000564631:exon3:c.101+1G>A;ENST00000569053:exon3:c.101+1G>A;ENST00000443099:exon3:c.101+1G>A;ENST00000562706:exon3:c.101+1G>A;ENST00000565918:exon3:c.101+1G>A;ENST00000564008:exon3:c.101+1G>A;ENST00000569982:exon3:c.41+1G>A;ENST00000544714:exon3:c.101+1G>A)	.	.	0.999985532734767	0.936
18	66381083	G	A	18	68713846	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.C101T:p.S34L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.C101T:p.S34L;ENSG00000166479:ENST00000562706:exon2:c.C101T:p.S34L;ENSG00000166479:ENST00000564008:exon2:c.C101T:p.S34L;ENSG00000166479:ENST00000565918:exon2:c.C101T:p.S34L;ENSG00000166479:ENST00000569982:exon2:c.C41T:p.S14L;ENSG00000166479:ENST00000564631:exon2:c.C101T:p.S34L;ENSG00000166479:ENST00000544714:exon2:c.C101T:p.S34L;ENSG00000166479:ENST00000569053:exon2:c.C101T:p.S34L;ENSG00000166479:ENST00000299608:exon2:c.C101T:p.S34L;	0.984291262377701	0.844
18	66381083	G	C	18	68713846	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.C101G:p.S34W;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.C101G:p.S34W;ENSG00000166479:ENST00000562706:exon2:c.C101G:p.S34W;ENSG00000166479:ENST00000564008:exon2:c.C101G:p.S34W;ENSG00000166479:ENST00000565918:exon2:c.C101G:p.S34W;ENSG00000166479:ENST00000569982:exon2:c.C41G:p.S14W;ENSG00000166479:ENST00000564631:exon2:c.C101G:p.S34W;ENSG00000166479:ENST00000544714:exon2:c.C101G:p.S34W;ENSG00000166479:ENST00000569053:exon2:c.C101G:p.S34W;ENSG00000166479:ENST00000299608:exon2:c.C101G:p.S34W;	0.990408102129605	0.852
18	66381083	G	T	18	68713846	y	y	exonic	TMX3	stopgain SNV	TMX3:NM_019022:exon2:c.C101A:p.S34X;	exonic	ENSG00000166479	stopgain SNV	ENSG00000166479:ENST00000443099:exon2:c.C101A:p.S34X;ENSG00000166479:ENST00000562706:exon2:c.C101A:p.S34X;ENSG00000166479:ENST00000564008:exon2:c.C101A:p.S34X;ENSG00000166479:ENST00000565918:exon2:c.C101A:p.S34X;ENSG00000166479:ENST00000569982:exon2:c.C41A:p.S14X;ENSG00000166479:ENST00000564631:exon2:c.C101A:p.S34X;ENSG00000166479:ENST00000544714:exon2:c.C101A:p.S34X;ENSG00000166479:ENST00000569053:exon2:c.C101A:p.S34X;ENSG00000166479:ENST00000299608:exon2:c.C101A:p.S34X;	0.989811488068978	0.952
18	66381084	A	C	18	68713847	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.T100G:p.S34A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T100G:p.S34A;ENSG00000166479:ENST00000562706:exon2:c.T100G:p.S34A;ENSG00000166479:ENST00000564008:exon2:c.T100G:p.S34A;ENSG00000166479:ENST00000565918:exon2:c.T100G:p.S34A;ENSG00000166479:ENST00000569982:exon2:c.T40G:p.S14A;ENSG00000166479:ENST00000564631:exon2:c.T100G:p.S34A;ENSG00000166479:ENST00000544714:exon2:c.T100G:p.S34A;ENSG00000166479:ENST00000569053:exon2:c.T100G:p.S34A;ENSG00000166479:ENST00000299608:exon2:c.T100G:p.S34A;	0.954315187652498	0.79
18	66381084	A	G	18	68713847	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.T100C:p.S34P;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T100C:p.S34P;ENSG00000166479:ENST00000562706:exon2:c.T100C:p.S34P;ENSG00000166479:ENST00000564008:exon2:c.T100C:p.S34P;ENSG00000166479:ENST00000565918:exon2:c.T100C:p.S34P;ENSG00000166479:ENST00000569982:exon2:c.T40C:p.S14P;ENSG00000166479:ENST00000564631:exon2:c.T100C:p.S34P;ENSG00000166479:ENST00000544714:exon2:c.T100C:p.S34P;ENSG00000166479:ENST00000569053:exon2:c.T100C:p.S34P;ENSG00000166479:ENST00000299608:exon2:c.T100C:p.S34P;	0.970051800181987	0.896
18	66381084	A	T	18	68713847	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.T100A:p.S34T;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T100A:p.S34T;ENSG00000166479:ENST00000562706:exon2:c.T100A:p.S34T;ENSG00000166479:ENST00000564008:exon2:c.T100A:p.S34T;ENSG00000166479:ENST00000565918:exon2:c.T100A:p.S34T;ENSG00000166479:ENST00000569982:exon2:c.T40A:p.S14T;ENSG00000166479:ENST00000564631:exon2:c.T100A:p.S34T;ENSG00000166479:ENST00000544714:exon2:c.T100A:p.S34T;ENSG00000166479:ENST00000569053:exon2:c.T100A:p.S34T;ENSG00000166479:ENST00000299608:exon2:c.T100A:p.S34T;	0.00795678801987447	0.09
18	66381085	T	A	18	68713848	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.A99T:p.E33D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.A99T:p.E33D;ENSG00000166479:ENST00000562706:exon2:c.A99T:p.E33D;ENSG00000166479:ENST00000564008:exon2:c.A99T:p.E33D;ENSG00000166479:ENST00000565918:exon2:c.A99T:p.E33D;ENSG00000166479:ENST00000569982:exon2:c.A39T:p.E13D;ENSG00000166479:ENST00000564631:exon2:c.A99T:p.E33D;ENSG00000166479:ENST00000544714:exon2:c.A99T:p.E33D;ENSG00000166479:ENST00000569053:exon2:c.A99T:p.E33D;ENSG00000166479:ENST00000299608:exon2:c.A99T:p.E33D;	0.00182913721928182	0.176
18	66381085	T	C	18	68713848	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon2:c.A99G:p.E33E;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.A99G:p.E33E;ENSG00000166479:ENST00000562706:exon2:c.A99G:p.E33E;ENSG00000166479:ENST00000564008:exon2:c.A99G:p.E33E;ENSG00000166479:ENST00000565918:exon2:c.A99G:p.E33E;ENSG00000166479:ENST00000569982:exon2:c.A39G:p.E13E;ENSG00000166479:ENST00000564631:exon2:c.A99G:p.E33E;ENSG00000166479:ENST00000544714:exon2:c.A99G:p.E33E;ENSG00000166479:ENST00000569053:exon2:c.A99G:p.E33E;ENSG00000166479:ENST00000299608:exon2:c.A99G:p.E33E;	7.98492038420671E-4	0.046
18	66381085	T	G	18	68713848	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.A99C:p.E33D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.A99C:p.E33D;ENSG00000166479:ENST00000562706:exon2:c.A99C:p.E33D;ENSG00000166479:ENST00000564008:exon2:c.A99C:p.E33D;ENSG00000166479:ENST00000565918:exon2:c.A99C:p.E33D;ENSG00000166479:ENST00000569982:exon2:c.A39C:p.E13D;ENSG00000166479:ENST00000564631:exon2:c.A99C:p.E33D;ENSG00000166479:ENST00000544714:exon2:c.A99C:p.E33D;ENSG00000166479:ENST00000569053:exon2:c.A99C:p.E33D;ENSG00000166479:ENST00000299608:exon2:c.A99C:p.E33D;	5.65344964942361E-5	0.002
18	66381136	A	C	18	68713899	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon2:c.T48G:p.V16V;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T48G:p.V16V;ENSG00000166479:ENST00000562706:exon2:c.T48G:p.V16V;ENSG00000166479:ENST00000564008:exon2:c.T48G:p.V16V;ENSG00000166479:ENST00000565918:exon2:c.T48G:p.V16V;ENSG00000166479:ENST00000564631:exon2:c.T48G:p.V16V;ENSG00000166479:ENST00000544714:exon2:c.T48G:p.V16V;ENSG00000166479:ENST00000569053:exon2:c.T48G:p.V16V;ENSG00000166479:ENST00000299608:exon2:c.T48G:p.V16V;	3.79984932475497E-5	0.004
18	66381136	A	G	18	68713899	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon2:c.T48C:p.V16V;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T48C:p.V16V;ENSG00000166479:ENST00000562706:exon2:c.T48C:p.V16V;ENSG00000166479:ENST00000564008:exon2:c.T48C:p.V16V;ENSG00000166479:ENST00000565918:exon2:c.T48C:p.V16V;ENSG00000166479:ENST00000564631:exon2:c.T48C:p.V16V;ENSG00000166479:ENST00000544714:exon2:c.T48C:p.V16V;ENSG00000166479:ENST00000569053:exon2:c.T48C:p.V16V;ENSG00000166479:ENST00000299608:exon2:c.T48C:p.V16V;	5.30934036850831E-5	0.022
18	66381136	A	T	18	68713899	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon2:c.T48A:p.V16V;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T48A:p.V16V;ENSG00000166479:ENST00000562706:exon2:c.T48A:p.V16V;ENSG00000166479:ENST00000564008:exon2:c.T48A:p.V16V;ENSG00000166479:ENST00000565918:exon2:c.T48A:p.V16V;ENSG00000166479:ENST00000564631:exon2:c.T48A:p.V16V;ENSG00000166479:ENST00000544714:exon2:c.T48A:p.V16V;ENSG00000166479:ENST00000569053:exon2:c.T48A:p.V16V;ENSG00000166479:ENST00000299608:exon2:c.T48A:p.V16V;	2.70975127478987E-4	0.042
18	66381137	A	C	18	68713900	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.T47G:p.V16G;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T47G:p.V16G;ENSG00000166479:ENST00000562706:exon2:c.T47G:p.V16G;ENSG00000166479:ENST00000564008:exon2:c.T47G:p.V16G;ENSG00000166479:ENST00000565918:exon2:c.T47G:p.V16G;ENSG00000166479:ENST00000564631:exon2:c.T47G:p.V16G;ENSG00000166479:ENST00000544714:exon2:c.T47G:p.V16G;ENSG00000166479:ENST00000569053:exon2:c.T47G:p.V16G;ENSG00000166479:ENST00000299608:exon2:c.T47G:p.V16G;	0.00308294076534555	0.05
18	66381137	A	G	18	68713900	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.T47C:p.V16A;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T47C:p.V16A;ENSG00000166479:ENST00000562706:exon2:c.T47C:p.V16A;ENSG00000166479:ENST00000564008:exon2:c.T47C:p.V16A;ENSG00000166479:ENST00000565918:exon2:c.T47C:p.V16A;ENSG00000166479:ENST00000564631:exon2:c.T47C:p.V16A;ENSG00000166479:ENST00000544714:exon2:c.T47C:p.V16A;ENSG00000166479:ENST00000569053:exon2:c.T47C:p.V16A;ENSG00000166479:ENST00000299608:exon2:c.T47C:p.V16A;	0.00464429886053217	0.04
18	66381137	A	T	18	68713900	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon2:c.T47A:p.V16D;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon2:c.T47A:p.V16D;ENSG00000166479:ENST00000562706:exon2:c.T47A:p.V16D;ENSG00000166479:ENST00000564008:exon2:c.T47A:p.V16D;ENSG00000166479:ENST00000565918:exon2:c.T47A:p.V16D;ENSG00000166479:ENST00000564631:exon2:c.T47A:p.V16D;ENSG00000166479:ENST00000544714:exon2:c.T47A:p.V16D;ENSG00000166479:ENST00000569053:exon2:c.T47A:p.V16D;ENSG00000166479:ENST00000299608:exon2:c.T47A:p.V16D;	0.00455550459124179	0.016
18	66381138	C	A	18	68713901	y	y	splicing	TMX3(NM_019022:exon3:c.47-1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.47-1G>T;ENST00000564631:exon3:c.47-1G>T;ENST00000569053:exon3:c.47-1G>T;ENST00000443099:exon3:c.47-1G>T;ENST00000562706:exon3:c.47-1G>T;ENST00000565918:exon3:c.47-1G>T;ENST00000564008:exon3:c.47-1G>T;ENST00000544714:exon3:c.47-1G>T)	.	.	0.999942513266374	0.822
18	66381138	C	G	18	68713901	y	y	splicing	TMX3(NM_019022:exon3:c.47-1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.47-1G>C;ENST00000564631:exon3:c.47-1G>C;ENST00000569053:exon3:c.47-1G>C;ENST00000443099:exon3:c.47-1G>C;ENST00000562706:exon3:c.47-1G>C;ENST00000565918:exon3:c.47-1G>C;ENST00000564008:exon3:c.47-1G>C;ENST00000544714:exon3:c.47-1G>C)	.	.	0.999942513266374	0.818
18	66381138	C	T	18	68713901	y	y	splicing	TMX3(NM_019022:exon3:c.47-1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.47-1G>A;ENST00000564631:exon3:c.47-1G>A;ENST00000569053:exon3:c.47-1G>A;ENST00000443099:exon3:c.47-1G>A;ENST00000562706:exon3:c.47-1G>A;ENST00000565918:exon3:c.47-1G>A;ENST00000564008:exon3:c.47-1G>A;ENST00000544714:exon3:c.47-1G>A)	.	.	0.999942513266374	0.86
18	66381139	T	A	18	68713902	y	y	splicing	TMX3(NM_019022:exon3:c.47-2A>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.47-2A>T;ENST00000564631:exon3:c.47-2A>T;ENST00000569053:exon3:c.47-2A>T;ENST00000443099:exon3:c.47-2A>T;ENST00000562706:exon3:c.47-2A>T;ENST00000565918:exon3:c.47-2A>T;ENST00000564008:exon3:c.47-2A>T;ENST00000544714:exon3:c.47-2A>T)	.	.	0.999962958601995	0.8
18	66381139	T	C	18	68713902	y	y	splicing	TMX3(NM_019022:exon3:c.47-2A>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.47-2A>G;ENST00000564631:exon3:c.47-2A>G;ENST00000569053:exon3:c.47-2A>G;ENST00000443099:exon3:c.47-2A>G;ENST00000562706:exon3:c.47-2A>G;ENST00000565918:exon3:c.47-2A>G;ENST00000564008:exon3:c.47-2A>G;ENST00000544714:exon3:c.47-2A>G)	.	.	0.999980255680118	0.788
18	66381139	T	G	18	68713902	y	y	splicing	TMX3(NM_019022:exon3:c.47-2A>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon3:c.47-2A>C;ENST00000564631:exon3:c.47-2A>C;ENST00000569053:exon3:c.47-2A>C;ENST00000443099:exon3:c.47-2A>C;ENST00000562706:exon3:c.47-2A>C;ENST00000565918:exon3:c.47-2A>C;ENST00000564008:exon3:c.47-2A>C;ENST00000544714:exon3:c.47-2A>C)	.	.	0.999980255680118	0.788
18	66381140	G	A	18	68713903	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.0022751666822974	0.13
18	66381140	G	C	18	68713903	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999861275272985	0.866
18	66381140	G	T	18	68713903	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.522359699212872	0.62
18	66381141	A	C	18	68713904	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.02189383105365E-5	0.008
18	66381141	A	G	18	68713904	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.9635955398612E-5	0.004
18	66381141	A	T	18	68713904	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.50329304014253E-5	0.004
18	66381142	A	C	18	68713905	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00139910286216031	0.244
18	66381142	A	G	18	68713905	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.74492174973744E-4	0.106
18	66381142	A	T	18	68713905	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00380259319974344	0.244
18	66381143	A	C	18	68713906	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.5079524609096E-4	0.124
18	66381143	A	G	18	68713906	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.88860502567563E-5	0.022
18	66381143	A	T	18	68713906	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.50652703424168E-4	0.13
18	66381144	A	C	18	68713907	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.60573787976341E-5	0.006
18	66381144	A	G	18	68713907	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	3.37565206783177E-5	0.002
18	66381144	A	T	18	68713907	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.84816198661668E-5	0.006
18	66381145	A	C	18	68713908	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.88182834405239E-5	0.014
18	66381145	A	G	18	68713908	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.12967705479703E-5	0.0
18	66381145	A	T	18	68713908	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.06931195745368E-5	0.008
18	66381146	A	C	18	68713909	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.03401879995435E-4	0.04
18	66381146	A	G	18	68713909	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.38113264713725E-5	0.01
18	66381146	A	T	18	68713909	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.00338698404718E-5	0.06
18	66381147	A	C	18	68713910	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.95608341157172E-5	0.048
18	66381147	A	G	18	68713910	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.85331398514838E-5	0.0
18	66381147	A	T	18	68713910	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.49098212539864E-4	0.028
18	66381148	A	C	18	68713911	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.59059115324352E-5	0.018
18	66381148	A	G	18	68713911	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	6.38113264713725E-5	0.01
18	66381148	A	T	18	68713911	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.5446307771172E-4	0.06
18	66381149	A	C	18	68713912	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.15916218670584E-4	0.056
18	66381149	A	G	18	68713912	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.31968174118844E-5	0.002
18	66381149	A	T	18	68713912	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.77800933500364E-5	0.1
18	66381492	G	A	18	68714255	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.53292460361593E-5	0.022
18	66381492	G	C	18	68714255	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.53292460361593E-5	0.006
18	66381492	G	T	18	68714255	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.53292460361593E-5	0.008
18	66381493	C	A	18	68714256	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.49702646665041E-5	0.004
18	66381493	C	G	18	68714256	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.08802802279601E-5	0.004
18	66381493	C	T	18	68714256	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.49702646665041E-5	0.004
18	66381494	A	C	18	68714257	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.93008933363103E-5	0.0
18	66381494	A	G	18	68714257	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.93008933363103E-5	0.0
18	66381494	A	T	18	68714257	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	2.93008933363103E-5	0.0
18	66381495	A	C	18	68714258	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.80994074047231E-5	0.0
18	66381495	A	G	18	68714258	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.80994074047231E-5	0.0
18	66381495	A	T	18	68714258	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.83708300348738E-5	0.0
18	66381496	T	A	18	68714259	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.54583771157E-5	0.0
18	66381496	T	C	18	68714259	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.54583771157E-5	0.0
18	66381496	T	G	18	68714259	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.54583771157E-5	0.0
18	66381497	T	A	18	68714260	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.85892088628007E-5	0.012
18	66381497	T	C	18	68714260	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.85892088628007E-5	0.024
18	66381497	T	G	18	68714260	n	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.85892088628007E-5	0.014
18	66381498	A	C	18	68714261	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479	.	.	5.07626055534042E-5	0.02
18	66381498	A	G	18	68714261	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479	.	.	5.07626055534042E-5	0.02
18	66381498	A	T	18	68714261	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479	.	.	5.07626055534042E-5	0.02
18	66381499	C	A	18	68714262	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479	.	.	3.78864525412067E-5	0.0
18	66381499	C	G	18	68714262	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479	.	.	2.45277156108894E-5	0.0
18	66381499	C	T	18	68714262	n	y	intronic	TMX3	.	.	splicing	ENSG00000166479	.	.	3.78864525412067E-5	0.0
18	66381500	C	A	18	68714263	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	3.75289494538373E-5	0.002
18	66381500	C	G	18	68714263	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	3.75289494538373E-5	0.002
18	66381500	C	T	18	68714263	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	3.75289494538373E-5	0.002
18	66381501	T	A	18	68714264	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	1.66623858582314E-4	0.016
18	66381501	T	C	18	68714264	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	1.01778106764093E-4	0.016
18	66381501	T	G	18	68714264	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	1.01778106764093E-4	0.016
18	66381502	C	A	18	68714265	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	9.15380256934019E-5	0.0
18	66381502	C	G	18	68714265	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	5.03640525457558E-5	0.0
18	66381502	C	T	18	68714265	n	y	intronic	TMX3	.	.	UTR5	ENSG00000166479	.	.	9.15380256934019E-5	0.0
18	66382165	C	A	18	68714928	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.94828525197826E-5	0.004
18	66382165	C	G	18	68714928	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.94828525197826E-5	0.0
18	66382165	C	T	18	68714928	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	5.75779046797642E-5	0.0
18	66382166	C	A	18	68714929	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.00285006077268E-4	0.0
18	66382166	C	G	18	68714929	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	8.33096746072748E-5	0.006
18	66382166	C	T	18	68714929	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.01369085037281E-4	0.008
18	66382167	C	A	18	68714930	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	1.58037157121133E-4	0.016
18	66382167	C	G	18	68714930	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.00337475087020138	0.096
18	66382167	C	T	18	68714930	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	4.80628796053682E-4	0.012
18	66382168	A	C	18	68714931	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.92390250865315E-5	0.004
18	66382168	A	G	18	68714931	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	7.92390250865315E-5	0.004
18	66382168	A	T	18	68714931	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	9.59269567947512E-5	0.064
18	66382169	T	A	18	68714932	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.715362875901924	0.356
18	66382169	T	C	18	68714932	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.740856142458907	0.452
18	66382169	T	G	18	68714932	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.512519827204687	0.322
18	66382170	T	A	18	68714933	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999349260566822	0.898
18	66382170	T	C	18	68714933	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.934773462291181	0.678
18	66382170	T	G	18	68714933	y	y	intronic	TMX3	.	.	intronic	ENSG00000166479	.	.	0.999586923078835	0.944
18	66382171	A	C	18	68714934	y	y	splicing	TMX3(NM_019022:exon2:c.46+2T>G)	.	.	splicing	ENSG00000166479(ENST00000299608:exon2:c.46+2T>G;ENST00000564631:exon2:c.46+2T>G;ENST00000569053:exon2:c.46+2T>G;ENST00000443099:exon2:c.46+2T>G;ENST00000562706:exon2:c.46+2T>G;ENST00000565918:exon2:c.46+2T>G;ENST00000564008:exon2:c.46+2T>G;ENST00000544714:exon2:c.46+2T>G)	.	.	0.999990585896813	0.926
18	66382171	A	G	18	68714934	y	y	splicing	TMX3(NM_019022:exon2:c.46+2T>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon2:c.46+2T>C;ENST00000564631:exon2:c.46+2T>C;ENST00000569053:exon2:c.46+2T>C;ENST00000443099:exon2:c.46+2T>C;ENST00000562706:exon2:c.46+2T>C;ENST00000565918:exon2:c.46+2T>C;ENST00000564008:exon2:c.46+2T>C;ENST00000544714:exon2:c.46+2T>C)	.	.	0.99608642129536	0.634
18	66382171	A	T	18	68714934	y	y	splicing	TMX3(NM_019022:exon2:c.46+2T>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon2:c.46+2T>A;ENST00000564631:exon2:c.46+2T>A;ENST00000569053:exon2:c.46+2T>A;ENST00000443099:exon2:c.46+2T>A;ENST00000562706:exon2:c.46+2T>A;ENST00000565918:exon2:c.46+2T>A;ENST00000564008:exon2:c.46+2T>A;ENST00000544714:exon2:c.46+2T>A)	.	.	0.999990585896813	0.928
18	66382172	C	A	18	68714935	y	y	splicing	TMX3(NM_019022:exon2:c.46+1G>T)	.	.	splicing	ENSG00000166479(ENST00000299608:exon2:c.46+1G>T;ENST00000564631:exon2:c.46+1G>T;ENST00000569053:exon2:c.46+1G>T;ENST00000443099:exon2:c.46+1G>T;ENST00000562706:exon2:c.46+1G>T;ENST00000565918:exon2:c.46+1G>T;ENST00000564008:exon2:c.46+1G>T;ENST00000544714:exon2:c.46+1G>T)	.	.	0.999976137096505	0.928
18	66382172	C	G	18	68714935	y	y	splicing	TMX3(NM_019022:exon2:c.46+1G>C)	.	.	splicing	ENSG00000166479(ENST00000299608:exon2:c.46+1G>C;ENST00000564631:exon2:c.46+1G>C;ENST00000569053:exon2:c.46+1G>C;ENST00000443099:exon2:c.46+1G>C;ENST00000562706:exon2:c.46+1G>C;ENST00000565918:exon2:c.46+1G>C;ENST00000564008:exon2:c.46+1G>C;ENST00000544714:exon2:c.46+1G>C)	.	.	0.999976137096505	0.932
18	66382172	C	T	18	68714935	y	y	splicing	TMX3(NM_019022:exon2:c.46+1G>A)	.	.	splicing	ENSG00000166479(ENST00000299608:exon2:c.46+1G>A;ENST00000564631:exon2:c.46+1G>A;ENST00000569053:exon2:c.46+1G>A;ENST00000443099:exon2:c.46+1G>A;ENST00000562706:exon2:c.46+1G>A;ENST00000565918:exon2:c.46+1G>A;ENST00000564008:exon2:c.46+1G>A;ENST00000544714:exon2:c.46+1G>A)	.	.	0.999986675681007	0.93
18	66382173	C	A	18	68714936	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon1:c.G46T:p.V16F;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.G46T:p.V16F;ENSG00000166479:ENST00000562706:exon1:c.G46T:p.V16F;ENSG00000166479:ENST00000564008:exon1:c.G46T:p.V16F;ENSG00000166479:ENST00000565918:exon1:c.G46T:p.V16F;ENSG00000166479:ENST00000564631:exon1:c.G46T:p.V16F;ENSG00000166479:ENST00000544714:exon1:c.G46T:p.V16F;ENSG00000166479:ENST00000569053:exon1:c.G46T:p.V16F;ENSG00000166479:ENST00000299608:exon1:c.G46T:p.V16F;	0.999987469944553	1.0
18	66382173	C	G	18	68714936	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon1:c.G46C:p.V16L;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.G46C:p.V16L;ENSG00000166479:ENST00000562706:exon1:c.G46C:p.V16L;ENSG00000166479:ENST00000564008:exon1:c.G46C:p.V16L;ENSG00000166479:ENST00000565918:exon1:c.G46C:p.V16L;ENSG00000166479:ENST00000564631:exon1:c.G46C:p.V16L;ENSG00000166479:ENST00000544714:exon1:c.G46C:p.V16L;ENSG00000166479:ENST00000569053:exon1:c.G46C:p.V16L;ENSG00000166479:ENST00000299608:exon1:c.G46C:p.V16L;	0.999997551188445	1.0
18	66382173	C	T	18	68714936	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon1:c.G46A:p.V16I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.G46A:p.V16I;ENSG00000166479:ENST00000562706:exon1:c.G46A:p.V16I;ENSG00000166479:ENST00000564008:exon1:c.G46A:p.V16I;ENSG00000166479:ENST00000565918:exon1:c.G46A:p.V16I;ENSG00000166479:ENST00000564631:exon1:c.G46A:p.V16I;ENSG00000166479:ENST00000544714:exon1:c.G46A:p.V16I;ENSG00000166479:ENST00000569053:exon1:c.G46A:p.V16I;ENSG00000166479:ENST00000299608:exon1:c.G46A:p.V16I;	0.999989790505923	1.0
18	66382174	T	A	18	68714937	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon1:c.A45T:p.T15T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.A45T:p.T15T;ENSG00000166479:ENST00000562706:exon1:c.A45T:p.T15T;ENSG00000166479:ENST00000564008:exon1:c.A45T:p.T15T;ENSG00000166479:ENST00000565918:exon1:c.A45T:p.T15T;ENSG00000166479:ENST00000564631:exon1:c.A45T:p.T15T;ENSG00000166479:ENST00000544714:exon1:c.A45T:p.T15T;ENSG00000166479:ENST00000569053:exon1:c.A45T:p.T15T;ENSG00000166479:ENST00000299608:exon1:c.A45T:p.T15T;	0.997747877301247	0.91
18	66382174	T	C	18	68714937	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon1:c.A45G:p.T15T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.A45G:p.T15T;ENSG00000166479:ENST00000562706:exon1:c.A45G:p.T15T;ENSG00000166479:ENST00000564008:exon1:c.A45G:p.T15T;ENSG00000166479:ENST00000565918:exon1:c.A45G:p.T15T;ENSG00000166479:ENST00000564631:exon1:c.A45G:p.T15T;ENSG00000166479:ENST00000544714:exon1:c.A45G:p.T15T;ENSG00000166479:ENST00000569053:exon1:c.A45G:p.T15T;ENSG00000166479:ENST00000299608:exon1:c.A45G:p.T15T;	0.988924498352333	0.842
18	66382174	T	G	18	68714937	y	y	exonic	TMX3	synonymous SNV	TMX3:NM_019022:exon1:c.A45C:p.T15T;	exonic	ENSG00000166479	synonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.A45C:p.T15T;ENSG00000166479:ENST00000562706:exon1:c.A45C:p.T15T;ENSG00000166479:ENST00000564008:exon1:c.A45C:p.T15T;ENSG00000166479:ENST00000565918:exon1:c.A45C:p.T15T;ENSG00000166479:ENST00000564631:exon1:c.A45C:p.T15T;ENSG00000166479:ENST00000544714:exon1:c.A45C:p.T15T;ENSG00000166479:ENST00000569053:exon1:c.A45C:p.T15T;ENSG00000166479:ENST00000299608:exon1:c.A45C:p.T15T;	0.995452191248669	0.858
18	66382175	G	A	18	68714938	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon1:c.C44T:p.T15I;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.C44T:p.T15I;ENSG00000166479:ENST00000562706:exon1:c.C44T:p.T15I;ENSG00000166479:ENST00000564008:exon1:c.C44T:p.T15I;ENSG00000166479:ENST00000565918:exon1:c.C44T:p.T15I;ENSG00000166479:ENST00000564631:exon1:c.C44T:p.T15I;ENSG00000166479:ENST00000544714:exon1:c.C44T:p.T15I;ENSG00000166479:ENST00000569053:exon1:c.C44T:p.T15I;ENSG00000166479:ENST00000299608:exon1:c.C44T:p.T15I;	0.998585549447205	0.91
18	66382175	G	C	18	68714938	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon1:c.C44G:p.T15R;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.C44G:p.T15R;ENSG00000166479:ENST00000562706:exon1:c.C44G:p.T15R;ENSG00000166479:ENST00000564008:exon1:c.C44G:p.T15R;ENSG00000166479:ENST00000565918:exon1:c.C44G:p.T15R;ENSG00000166479:ENST00000564631:exon1:c.C44G:p.T15R;ENSG00000166479:ENST00000544714:exon1:c.C44G:p.T15R;ENSG00000166479:ENST00000569053:exon1:c.C44G:p.T15R;ENSG00000166479:ENST00000299608:exon1:c.C44G:p.T15R;	0.951758474520219	0.794
18	66382175	G	T	18	68714938	y	y	exonic	TMX3	nonsynonymous SNV	TMX3:NM_019022:exon1:c.C44A:p.T15K;	exonic	ENSG00000166479	nonsynonymous SNV	ENSG00000166479:ENST00000443099:exon1:c.C44A:p.T15K;ENSG00000166479:ENST00000562706:exon1:c.C44A:p.T15K;ENSG00000166479:ENST00000564008:exon1:c.C44A:p.T15K;ENSG00000166479:ENST00000565918:exon1:c.C44A:p.T15K;ENSG00000166479:ENST00000564631:exon1:c.C44A:p.T15K;ENSG00000166479:ENST00000544714:exon1:c.C44A:p.T15K;ENSG00000166479:ENST00000569053:exon1:c.C44A:p.T15K;ENSG00000166479:ENST00000299608:exon1:c.C44A:p.T15K;	0.951758474520219	0.798
18	66382596	G	A	18	68715359	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	3.87192213223985E-4	0.084
18	66382596	G	C	18	68715359	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.14785528412137E-4	0.096
18	66382596	G	T	18	68715359	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	4.81551563951974E-4	0.11
18	66382597	A	C	18	68715360	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.0990371017970064	0.326
18	66382597	A	G	18	68715360	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.274849387895867	0.284
18	66382597	A	T	18	68715360	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.359559090207026	0.268
18	66382598	G	A	18	68715361	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.991586635865839	0.926
18	66382598	G	C	18	68715361	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.997422554326211	0.892
18	66382598	G	T	18	68715361	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.996067804987167	0.904
18	66382599	G	A	18	68715362	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999823391545471	0.666
18	66382599	G	C	18	68715362	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999823391545471	0.664
18	66382599	G	T	18	68715362	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999823391545471	0.664
18	66382600	T	A	18	68715363	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999619997781312	0.622
18	66382600	T	C	18	68715363	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.277389497184989	0.436
18	66382600	T	G	18	68715363	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999619997781312	0.62
18	66382601	A	C	18	68715364	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.51164932147458	0.516
18	66382601	A	G	18	68715364	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0154287771140129	0.19
18	66382601	A	T	18	68715364	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.524246686579786	0.548
18	66382602	G	A	18	68715365	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.90372362781104E-4	0.132
18	66382602	G	C	18	68715365	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.85878198767883E-4	0.104
18	66382602	G	T	18	68715365	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.65781985500145E-4	0.076
18	66382603	G	A	18	68715366	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.917457424842931	0.546
18	66382603	G	C	18	68715366	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.878953185969969	0.472
18	66382603	G	T	18	68715366	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.878760604014742	0.552
18	66382604	C	A	18	68715367	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.55959000288325E-4	0.006
18	66382604	C	G	18	68715367	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.17687402016212E-4	0.038
18	66382604	C	T	18	68715367	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.11877380238232E-5	0.006
18	66382605	T	A	18	68715368	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.40326096396228E-5	0.002
18	66382605	T	C	18	68715368	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.28759403134257E-4	0.014
18	66382605	T	G	18	68715368	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.25306015473716E-4	0.006
18	66382606	C	A	18	68715369	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.78165913378198E-4	0.054
18	66382606	C	G	18	68715369	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.06904314222228E-4	0.0
18	66382606	C	T	18	68715369	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.78165913378198E-4	0.02
18	66383753	T	A	18	68716516	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.014900947293915	0.276
18	66383753	T	C	18	68716516	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.123183911884E-5	0.01
18	66383753	T	G	18	68716516	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0587170126253016	0.294
18	66383754	T	A	18	68716517	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.132287691919147	0.428
18	66383754	T	C	18	68716517	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.65571135286778E-4	0.08
18	66383754	T	G	18	68716517	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.513451647220159	0.47
18	66383755	T	A	18	68716518	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0669791710543468	0.39
18	66383755	T	C	18	68716518	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.32880881212684E-4	0.028
18	66383755	T	G	18	68716518	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.715565527416331	0.524
18	66383756	T	A	18	68716519	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.030849113495819	0.186
18	66383756	T	C	18	68716519	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.5729066729151E-4	0.05
18	66383756	T	G	18	68716519	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0171443021999807	0.232
18	66383757	A	C	18	68716520	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.78963313885222E-5	0.006
18	66383757	A	G	18	68716520	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.37501361942679E-5	0.006
18	66383757	A	T	18	68716520	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.75631119971966E-5	0.006
18	66383758	A	C	18	68716521	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.84193600056129E-5	0.002
18	66383758	A	G	18	68716521	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.672559934367125	0.952
18	66383758	A	T	18	68716521	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.06651109346937E-5	0.004
18	66383759	T	A	18	68716522	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0553230023695618	0.384
18	66383759	T	C	18	68716522	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.71639330894861E-5	0.014
18	66383759	T	G	18	68716522	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999844995875655	0.968
18	66383760	T	A	18	68716523	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0450103532306491	0.136
18	66383760	T	C	18	68716523	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.96580993959436E-4	0.03
18	66383760	T	G	18	68716523	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0619453569764789	0.212
18	66383761	T	A	18	68716524	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.77346097862455E-4	0.056
18	66383761	T	C	18	68716524	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.61427405690856E-5	0.044
18	66383761	T	G	18	68716524	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.68287611725646E-4	0.104
18	66383762	C	A	18	68716525	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.742202447198363	0.548
18	66383762	C	G	18	68716525	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.997684628183242	0.764
18	66383762	C	T	18	68716525	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.38727624961272E-4	0.022
18	66383763	A	C	18	68716526	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999800177908076	0.544
18	66383763	A	G	18	68716526	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999800177908076	0.544
18	66383763	A	T	18	68716526	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999800177908076	0.542
18	66383764	G	A	18	68716527	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999786866081937	0.576
18	66383764	G	C	18	68716527	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999786866081937	0.582
18	66383764	G	T	18	68716527	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999786866081937	0.584
18	66383765	T	A	18	68716528	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	3.78205327723092E-5	0.004
18	66383765	T	C	18	68716528	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	7.87542331696399E-5	0.006
18	66383765	T	G	18	68716528	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	5.93866728597615E-5	0.066
18	66383766	A	C	18	68716529	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	1.11727217765703E-4	0.01
18	66383766	A	G	18	68716529	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	6.93640280207213E-5	0.01
18	66383766	A	T	18	68716529	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	1.51370535039042E-4	0.0
18	66383829	G	A	18	68716592	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	1.85357941818597E-5	0.008
18	66383829	G	C	18	68716592	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	1.96303700476219E-5	0.014
18	66383829	G	T	18	68716592	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	1.33300498685423E-4	0.124
18	66383830	A	C	18	68716593	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.0253956193937488	0.432
18	66383830	A	G	18	68716593	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.081578443381237	0.328
18	66383830	A	T	18	68716593	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.111918727441529	0.388
18	66383831	G	A	18	68716594	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.86232383203805	0.742
18	66383831	G	C	18	68716594	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.958883972542045	0.628
18	66383831	G	T	18	68716594	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.899483482325865	0.776
18	66383832	G	A	18	68716595	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.997268733977452	0.456
18	66383832	G	C	18	68716595	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.997268733977452	0.414
18	66383832	G	T	18	68716595	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.997268733977452	0.424
18	66383833	T	A	18	68716596	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999941977319723	0.75
18	66383833	T	C	18	68716596	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.821396534829857	0.538
18	66383833	T	G	18	68716596	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999941977319723	0.748
18	66383834	A	C	18	68716597	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.935109090038272	0.478
18	66383834	A	G	18	68716597	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0751704513435494	0.406
18	66383834	A	T	18	68716597	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.883718782437863	0.542
18	66383835	T	A	18	68716598	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.78864525412067E-5	0.018
18	66383835	T	C	18	68716598	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66383835	T	G	18	68716598	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.8774816010482E-5	0.0
18	66383836	G	A	18	68716599	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.107733599689214	0.278
18	66383836	G	C	18	68716599	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.190541707123178	0.308
18	66383836	G	T	18	68716599	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0441585002181219	0.214
18	66383837	T	A	18	68716600	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00650995932880443	0.186
18	66383837	T	C	18	68716600	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00152374276214782	0.248
18	66383837	T	G	18	68716600	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.157538722378E-4	0.138
18	66383838	G	A	18	68716601	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.61707993540616E-5	0.0
18	66383838	G	C	18	68716601	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.61707993540616E-5	0.0
18	66383838	G	T	18	68716601	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.67703958884379E-5	0.0
18	66383839	A	C	18	68716602	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.77346097862455E-4	0.172
18	66383839	A	G	18	68716602	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.79044559883503E-4	0.114
18	66383839	A	T	18	68716602	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.32626888200385E-4	0.004
18	66401959	C	A	18	68734722	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.33954007988963E-5	0.032
18	66401959	C	G	18	68734722	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.29416206202562E-5	0.018
18	66401959	C	T	18	68734722	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.4988360059907E-5	0.0
18	66401960	T	A	18	68734723	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.103007487626086	0.286
18	66401960	T	C	18	68734723	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0016607919940781	0.07
18	66401960	T	G	18	68734723	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0465597166346825	0.294
18	66401961	T	A	18	68734724	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.24582785604686E-4	0.142
18	66401961	T	C	18	68734724	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.25285489049708E-5	0.0
18	66401961	T	G	18	68734724	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.14009031807272E-4	0.144
18	66401962	A	C	18	68734725	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.67008374649513E-5	0.0
18	66401962	A	G	18	68734725	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.32366058466673E-5	0.002
18	66401962	A	T	18	68734725	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.91951932692011E-5	0.0
18	66401963	T	A	18	68734726	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.108444291202369	0.17
18	66401963	T	C	18	68734726	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.55891493728283E-4	0.002
18	66401963	T	G	18	68734726	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999819391121909	0.99
18	66401964	T	A	18	68734727	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.480681103562589	0.384
18	66401964	T	C	18	68734727	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.31691602106191E-4	0.02
18	66401964	T	G	18	68734727	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.401546713600893	0.316
18	66401965	T	A	18	68734728	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.881275184491423	0.534
18	66401965	T	C	18	68734728	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0010706719400949	0.042
18	66401965	T	G	18	68734728	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.891408866534309	0.592
18	66401966	T	A	18	68734729	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0848112081740338	0.146
18	66401966	T	C	18	68734729	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.08742565256091E-4	0.006
18	66401966	T	G	18	68734729	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.284568636900087	0.236
18	66401967	C	A	18	68734730	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.53282884746E-5	0.0
18	66401967	C	G	18	68734730	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.80170582350855E-5	0.0
18	66401967	C	T	18	68734730	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.53282884746E-5	0.0
18	66401968	C	A	18	68734731	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.793218484883153	0.518
18	66401968	C	G	18	68734731	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.9985353562016	0.91
18	66401968	C	T	18	68734731	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.98845006064489E-4	0.0
18	66401969	A	C	18	68734732	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.997035144553061	0.362
18	66401969	A	G	18	68734732	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.997035144553061	0.362
18	66401969	A	T	18	68734732	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.997035144553061	0.356
18	66401970	G	A	18	68734733	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999641548695975	0.62
18	66401970	G	C	18	68734733	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999641548695975	0.596
18	66401970	G	T	18	68734733	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999641548695975	0.6
18	66401971	A	C	18	68734734	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	7.70295176959483E-4	0.03
18	66401971	A	G	18	68734734	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	1.86738609989131E-4	0.002
18	66401971	A	T	18	68734734	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.00111772383973019	0.066
18	66401972	A	C	18	68734735	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	1.39972174927832E-4	0.0
18	66401972	A	G	18	68734735	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	4.28290779969503E-5	0.008
18	66401972	A	T	18	68734735	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	9.71277095111544E-5	0.0
18	66402001	A	C	18	68734764	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	9.49680840686705E-6	0.0
18	66402001	A	G	18	68734764	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	1.15005492366927E-4	0.002
18	66402001	A	T	18	68734764	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.00381801802589496	0.134
18	66402002	A	C	18	68734765	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.680113607227691	0.688
18	66402002	A	G	18	68734765	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.653711700082636	0.62
18	66402002	A	T	18	68734765	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.887667371735946	0.664
18	66402003	G	A	18	68734766	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.997180670459233	0.948
18	66402003	G	C	18	68734766	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.999819271820092	0.926
18	66402003	G	T	18	68734766	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.998939104027603	0.942
18	66402004	G	A	18	68734767	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999625663715539	0.658
18	66402004	G	C	18	68734767	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999625663715539	0.658
18	66402004	G	T	18	68734767	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999625663715539	0.658
18	66402005	T	A	18	68734768	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999800177908076	0.53
18	66402005	T	C	18	68734768	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.254173166827514	0.506
18	66402005	T	G	18	68734768	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999800177908076	0.548
18	66402006	A	C	18	68734769	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.865770731212143	0.46
18	66402006	A	G	18	68734769	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0993903064341011	0.426
18	66402006	A	T	18	68734769	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.768764584353015	0.478
18	66402007	T	A	18	68734770	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.12036484444302E-4	0.076
18	66402007	T	C	18	68734770	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.08810371255277E-4	0.002
18	66402007	T	G	18	68734770	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.29450025534904E-5	0.0
18	66402008	G	A	18	68734771	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.116882977983282	0.418
18	66402008	G	C	18	68734771	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.39804071910159	0.448
18	66402008	G	T	18	68734771	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.462035146860603	0.436
18	66402009	A	C	18	68734772	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.45795349462801E-4	0.028
18	66402009	A	G	18	68734772	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.53407311325914E-5	0.0
18	66402009	A	T	18	68734772	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.14629407527051E-5	0.006
18	66402010	G	A	18	68734773	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.55051329724361E-5	0.002
18	66402010	G	C	18	68734773	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.37682852590761E-5	0.002
18	66402010	G	T	18	68734773	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.12120002013752E-5	0.0
18	66402011	T	A	18	68734774	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.06493353796791E-5	0.002
18	66402011	T	C	18	68734774	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.42526114426597E-5	0.004
18	66402011	T	G	18	68734774	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.06493353796791E-5	0.002
18	66465416	A	C	18	68798179	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.659499343434677	0.716
18	66465416	A	G	18	68798179	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.659499343434677	0.718
18	66465416	A	T	18	68798179	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.803913475204598	0.74
18	66465417	G	A	18	68798180	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.908319202453202	0.692
18	66465417	G	C	18	68798180	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.852786411205135	0.7
18	66465417	G	T	18	68798180	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.908319202453202	0.66
18	66465418	G	A	18	68798181	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.983143637104237	0.86
18	66465418	G	C	18	68798181	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.952391170177592	0.742
18	66465418	G	T	18	68798181	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.966879885038222	0.81
18	66465419	G	A	18	68798182	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.993151141741788	0.852
18	66465419	G	C	18	68798182	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.993151141741788	0.866
18	66465419	G	T	18	68798182	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.993151141741788	0.864
18	66465420	T	A	18	68798183	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.828045442883565	0.748
18	66465420	T	C	18	68798183	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.828045442883565	0.75
18	66465420	T	G	18	68798183	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.828045442883565	0.75
18	66465421	A	C	18	68798184	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.247557781323333	0.528
18	66465421	A	G	18	68798184	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.247557781323333	0.528
18	66465421	A	T	18	68798184	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.492243215047834	0.648
18	66465422	A	C	18	68798185	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.247557781323333	0.528
18	66465422	A	G	18	68798185	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.247557781323333	0.528
18	66465422	A	T	18	68798185	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.492243215047834	0.65
18	66465423	G	A	18	68798186	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.908319202453202	0.664
18	66465423	G	C	18	68798186	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.758443691625042	0.594
18	66465423	G	T	18	68798186	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.841113190748088	0.684
18	66465424	A	C	18	68798187	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0944221853156123	0.498
18	66465424	A	G	18	68798187	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0944221853156123	0.498
18	66465424	A	T	18	68798187	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.247557781323333	0.486
18	66465425	G	A	18	68798188	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.91204052003566E-4	0.018
18	66465425	G	C	18	68798188	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.51587894302331E-4	0.016
18	66465425	G	T	18	68798188	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.91204052003566E-4	0.018
18	66465426	T	A	18	68798189	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.44682472353823E-4	0.0
18	66465426	T	C	18	68798189	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.05309614883202E-4	0.0
18	66465426	T	G	18	68798189	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.05309614883202E-4	0.0
18	66465687	C	A	18	68798450	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.594810479771519	0.506
18	66465687	C	G	18	68798450	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.0638310437887336	0.214
18	66465687	C	T	18	68798450	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.594810479771519	0.5
18	66465688	A	C	18	68798451	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.440483202490144	0.634
18	66465688	A	G	18	68798451	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.440483202490144	0.63
18	66465688	A	T	18	68798451	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.502624535581599	0.66
18	66465689	G	A	18	68798452	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.822445538861235	0.638
18	66465689	G	C	18	68798452	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.594810479771519	0.616
18	66465689	G	T	18	68798452	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.822445538861235	0.6
18	66465690	G	A	18	68798453	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.985464553004571	0.858
18	66465690	G	C	18	68798453	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.982970311340294	0.838
18	66465690	G	T	18	68798453	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.985464553004571	0.854
18	66465691	T	A	18	68798454	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.0069180409540431	0.064
18	66465691	T	C	18	68798454	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.0069180409540431	0.056
18	66465691	T	G	18	68798454	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.0069180409540431	0.056
18	66465692	A	C	18	68798455	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0980333975144165	0.494
18	66465692	A	G	18	68798455	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0980333975144165	0.494
18	66465692	A	T	18	68798455	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.255374117213338	0.48
18	66465693	A	C	18	68798456	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.15838005414123E-4	0.0
18	66465693	A	G	18	68798456	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.15838005414123E-4	0.0
18	66465693	A	T	18	68798456	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.15838005414123E-4	0.0
18	66465694	G	A	18	68798457	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.041571057170385	0.188
18	66465694	G	C	18	68798457	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0258380179434369	0.066
18	66465694	G	T	18	68798457	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.034851112831758	0.08
18	66465695	A	C	18	68798458	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.54404724015672E-5	0.0
18	66465695	A	G	18	68798458	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.04639941844455E-5	0.0
18	66465695	A	T	18	68798458	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.2194139863653E-4	0.0
18	66465696	A	C	18	68798459	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.54404724015672E-5	0.0
18	66465696	A	G	18	68798459	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.54404724015672E-5	0.0
18	66465696	A	T	18	68798459	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	9.42334554293701E-5	0.0
18	66465697	T	A	18	68798460	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.91285012458584E-4	0.006
18	66465697	T	C	18	68798460	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.63915916572906E-4	0.004
18	66465697	T	G	18	68798460	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.63915916572906E-4	0.004
18	66490591	T	A	18	68823354	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.42005417025298E-5	0.0
18	66490591	T	C	18	68823354	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.42005417025298E-5	0.0
18	66490591	T	G	18	68823354	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.42005417025298E-5	0.0
18	66490592	G	A	18	68823355	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.018
18	66490592	G	C	18	68823355	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490592	G	T	18	68823355	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490593	T	A	18	68823356	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490593	T	C	18	68823356	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.004
18	66490593	T	G	18	68823356	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490594	G	A	18	68823357	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490594	G	C	18	68823357	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490594	G	T	18	68823357	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490595	C	A	18	68823358	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490595	C	G	18	68823358	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490595	C	T	18	68823358	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490596	G	A	18	68823359	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490596	G	C	18	68823359	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490596	G	T	18	68823359	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490597	T	A	18	68823360	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490597	T	C	18	68823360	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.22715807398031E-5	0.002
18	66490597	T	G	18	68823360	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.22715807398031E-5	0.002
18	66490598	C	A	18	68823361	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490598	C	G	18	68823361	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490598	C	T	18	68823361	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490599	T	A	18	68823362	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490599	T	C	18	68823362	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.22715807398031E-5	0.002
18	66490599	T	G	18	68823362	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.22715807398031E-5	0.002
18	66490600	T	A	18	68823363	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490600	T	C	18	68823363	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.22715807398031E-5	0.002
18	66490600	T	G	18	68823363	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.22715807398031E-5	0.002
18	66490601	A	C	18	68823364	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	2.33833472525359E-5	0.0
18	66490601	A	G	18	68823364	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	2.33833472525359E-5	0.0
18	66490601	A	T	18	68823364	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	2.33833472525359E-5	0.0
18	66490602	G	A	18	68823365	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	1.08378557604853E-5	0.0
18	66490602	G	C	18	68823365	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	1.98147604991153E-5	0.0
18	66490602	G	T	18	68823365	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	1.98147604991153E-5	0.0
18	66490603	A	C	18	68823366	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.63141535133926E-5	0.0
18	66490603	A	G	18	68823366	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.63141535133926E-5	0.0
18	66490603	A	T	18	68823366	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.83935518155002E-5	0.0
18	66490604	A	C	18	68823367	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.63141535133926E-5	0.0
18	66490604	A	G	18	68823367	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.63141535133926E-5	0.0
18	66490604	A	T	18	68823367	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.83935518155002E-5	0.0
18	66490651	C	A	18	68823414	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	7.60815764102212E-5	0.006
18	66490651	C	G	18	68823414	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	7.60815764102212E-5	0.006
18	66490651	C	T	18	68823414	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	7.60815764102212E-5	0.006
18	66490652	A	C	18	68823415	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	3.78864525412067E-5	0.0
18	66490652	A	G	18	68823415	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	3.78864525412067E-5	0.0
18	66490652	A	T	18	68823415	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	4.08802802279601E-5	0.0
18	66490653	G	A	18	68823416	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	3.78864525412067E-5	0.0
18	66490653	G	C	18	68823416	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490653	G	T	18	68823416	n	y	intronic	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	3.78864525412067E-5	0.0
18	66490654	G	A	18	68823417	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	4.92559286361592E-5	0.018
18	66490654	G	C	18	68823417	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490654	G	T	18	68823417	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	4.92559286361592E-5	0.016
18	66490655	T	A	18	68823418	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	1.89552819446206E-5	0.004
18	66490655	T	C	18	68823418	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	1.22715807398031E-5	0.002
18	66490655	T	G	18	68823418	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636	.	.	1.22715807398031E-5	0.002
18	66490656	A	C	18	68823419	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490656	A	G	18	68823419	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.45277156108894E-5	0.0
18	66490656	A	T	18	68823419	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.78864525412067E-5	0.0
18	66490657	A	C	18	68823420	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490657	A	G	18	68823420	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490657	A	T	18	68823420	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490658	C	A	18	68823421	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.012
18	66490658	C	G	18	68823421	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92559286361592E-5	0.018
18	66490658	C	T	18	68823421	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.60815764102212E-5	0.008
18	66490659	T	A	18	68823422	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490659	T	C	18	68823422	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490659	T	G	18	68823422	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490660	T	A	18	68823423	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490660	T	C	18	68823423	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490660	T	G	18	68823423	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490661	A	C	18	68823424	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490661	A	G	18	68823424	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66490661	A	T	18	68823424	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.89552819446206E-5	0.002
18	66503974	A	C	18	68836737	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	9.65033855432448E-6	0.0
18	66503974	A	G	18	68836737	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.65047732819488E-5	0.002
18	66503974	A	T	18	68836737	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.56227402875007E-5	0.0
18	66503975	T	A	18	68836738	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00262495397231146	0.196
18	66503975	T	C	18	68836738	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00184773928973207	0.074
18	66503975	T	G	18	68836738	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999463619410045	0.932
18	66503976	C	A	18	68836739	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.41703555806108E-4	0.05
18	66503976	C	G	18	68836739	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.10756591264616E-4	0.012
18	66503976	C	T	18	68836739	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.42595137936003E-5	0.0
18	66503977	T	A	18	68836740	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00170615069687412	0.236
18	66503977	T	C	18	68836740	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.94360351233534E-4	0.034
18	66503977	T	G	18	68836740	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00114521940760868	0.2
18	66503978	T	A	18	68836741	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00248580600332804	0.102
18	66503978	T	C	18	68836741	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.72992527785491E-4	0.048
18	66503978	T	G	18	68836741	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	9.23121177145409E-4	0.068
18	66503979	T	A	18	68836742	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.45255139100124E-4	0.05
18	66503979	T	C	18	68836742	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.04009419620411E-5	0.002
18	66503979	T	G	18	68836742	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.00070489639864E-5	0.016
18	66503980	T	A	18	68836743	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00209552963345317	0.064
18	66503980	T	C	18	68836743	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.41206770510299E-4	0.012
18	66503980	T	G	18	68836743	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00370497979036189	0.1
18	66503981	C	A	18	68836744	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.79813701483603E-5	0.018
18	66503981	C	G	18	68836744	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.05511818102956E-4	0.026
18	66503981	C	T	18	68836744	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.75944465765279E-5	0.0
18	66503982	T	A	18	68836745	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.56789130595614E-5	0.0
18	66503982	T	C	18	68836745	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.9655520891347E-5	0.002
18	66503982	T	G	18	68836745	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.08366949536456E-5	0.0
18	66503983	C	A	18	68836746	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0311437097478057	0.324
18	66503983	C	G	18	68836746	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.973397453566876	0.642
18	66503983	C	T	18	68836746	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.41783617054928E-4	0.002
18	66503984	A	C	18	68836747	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999994413342239	0.758
18	66503984	A	G	18	68836747	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999994413342239	0.758
18	66503984	A	T	18	68836747	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999994413342239	0.754
18	66503985	G	A	18	68836748	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999941977319723	0.768
18	66503985	G	C	18	68836748	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999941977319723	0.76
18	66503985	G	T	18	68836748	y	y	splicing	CCDC102B	.	.	splicing	ENSG00000150636	.	.	0.999941977319723	0.766
18	66503986	G	A	18	68836749	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	2.82500229585311E-4	0.116
18	66503986	G	C	18	68836749	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.00638137057848942	0.242
18	66503986	G	T	18	68836749	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	0.0396947131001151	0.394
18	66503987	T	A	18	68836750	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	6.11649590011749E-5	0.0
18	66503987	T	C	18	68836750	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	7.22993590197047E-5	0.004
18	66503987	T	G	18	68836750	y	y	UTR5	CCDC102B	.	.	UTR5	ENSG00000150636	.	.	5.37494763916526E-5	0.0
18	66504604	A	C	18	68837367	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon4:c.A604C:p.K202Q;CCDC102B:NM_024781:exon2:c.A604C:p.K202Q;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon2:c.A604C:p.K202Q;ENSG00000150636:ENST00000584775:exon4:c.A604C:p.K202Q;ENSG00000150636:ENST00000584156:exon1:c.A604C:p.K202Q;ENSG00000150636:ENST00000360242:exon2:c.A604C:p.K202Q;ENSG00000150636:ENST00000358653:exon2:c.A604C:p.K202Q;	6.41310498520857E-5	0.01
18	66504604	A	G	18	68837367	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon4:c.A604G:p.K202E;CCDC102B:NM_024781:exon2:c.A604G:p.K202E;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon2:c.A604G:p.K202E;ENSG00000150636:ENST00000584775:exon4:c.A604G:p.K202E;ENSG00000150636:ENST00000584156:exon1:c.A604G:p.K202E;ENSG00000150636:ENST00000360242:exon2:c.A604G:p.K202E;ENSG00000150636:ENST00000358653:exon2:c.A604G:p.K202E;	9.52357344275868E-5	0.008
18	66504604	A	T	18	68837367	y	y	exonic	CCDC102B	stopgain SNV	CCDC102B:NM_001093729:exon4:c.A604T:p.K202X;CCDC102B:NM_024781:exon2:c.A604T:p.K202X;	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000319445:exon2:c.A604T:p.K202X;ENSG00000150636:ENST00000584775:exon4:c.A604T:p.K202X;ENSG00000150636:ENST00000584156:exon1:c.A604T:p.K202X;ENSG00000150636:ENST00000360242:exon2:c.A604T:p.K202X;ENSG00000150636:ENST00000358653:exon2:c.A604T:p.K202X;	0.0351801676381523	0.206
18	66504605	A	C	18	68837368	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon4:c.A605C:p.K202T;CCDC102B:NM_024781:exon2:c.A605C:p.K202T;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon2:c.A605C:p.K202T;ENSG00000150636:ENST00000584775:exon4:c.A605C:p.K202T;ENSG00000150636:ENST00000584156:exon1:c.A605C:p.K202T;ENSG00000150636:ENST00000360242:exon2:c.A605C:p.K202T;ENSG00000150636:ENST00000358653:exon2:c.A605C:p.K202T;	0.0149700183550502	0.35
18	66504605	A	G	18	68837368	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon4:c.A605G:p.K202R;CCDC102B:NM_024781:exon2:c.A605G:p.K202R;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon2:c.A605G:p.K202R;ENSG00000150636:ENST00000584775:exon4:c.A605G:p.K202R;ENSG00000150636:ENST00000584156:exon1:c.A605G:p.K202R;ENSG00000150636:ENST00000360242:exon2:c.A605G:p.K202R;ENSG00000150636:ENST00000358653:exon2:c.A605G:p.K202R;	0.0131786185827187	0.192
18	66504605	A	T	18	68837368	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon4:c.A605T:p.K202M;CCDC102B:NM_024781:exon2:c.A605T:p.K202M;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon2:c.A605T:p.K202M;ENSG00000150636:ENST00000584775:exon4:c.A605T:p.K202M;ENSG00000150636:ENST00000584156:exon1:c.A605T:p.K202M;ENSG00000150636:ENST00000360242:exon2:c.A605T:p.K202M;ENSG00000150636:ENST00000358653:exon2:c.A605T:p.K202M;	0.0114189805552743	0.296
18	66504606	G	A	18	68837369	y	y	exonic	CCDC102B	synonymous SNV	CCDC102B:NM_001093729:exon4:c.G606A:p.K202K;CCDC102B:NM_024781:exon2:c.G606A:p.K202K;	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000319445:exon2:c.G606A:p.K202K;ENSG00000150636:ENST00000584775:exon4:c.G606A:p.K202K;ENSG00000150636:ENST00000584156:exon1:c.G606A:p.K202K;ENSG00000150636:ENST00000360242:exon2:c.G606A:p.K202K;ENSG00000150636:ENST00000358653:exon2:c.G606A:p.K202K;	0.768930151194644	0.88
18	66504606	G	C	18	68837369	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon4:c.G606C:p.K202N;CCDC102B:NM_024781:exon2:c.G606C:p.K202N;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon2:c.G606C:p.K202N;ENSG00000150636:ENST00000584775:exon4:c.G606C:p.K202N;ENSG00000150636:ENST00000584156:exon1:c.G606C:p.K202N;ENSG00000150636:ENST00000360242:exon2:c.G606C:p.K202N;ENSG00000150636:ENST00000358653:exon2:c.G606C:p.K202N;	0.991434848185019	0.716
18	66504606	G	T	18	68837369	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon4:c.G606T:p.K202N;CCDC102B:NM_024781:exon2:c.G606T:p.K202N;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon2:c.G606T:p.K202N;ENSG00000150636:ENST00000584775:exon4:c.G606T:p.K202N;ENSG00000150636:ENST00000584156:exon1:c.G606T:p.K202N;ENSG00000150636:ENST00000360242:exon2:c.G606T:p.K202N;ENSG00000150636:ENST00000358653:exon2:c.G606T:p.K202N;	0.99744543384673	0.922
18	66504607	G	A	18	68837370	y	y	splicing	CCDC102B(NM_001093729:exon4:c.606+1G>A;NM_024781:exon2:c.606+1G>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon4:c.606+1G>A;ENST00000319445:exon2:c.606+1G>A;ENST00000358653:exon2:c.606+1G>A;ENST00000360242:exon2:c.606+1G>A;ENST00000584156:exon1:c.606+1G>A)	.	.	0.999958003653399	0.816
18	66504607	G	C	18	68837370	y	y	splicing	CCDC102B(NM_001093729:exon4:c.606+1G>C;NM_024781:exon2:c.606+1G>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon4:c.606+1G>C;ENST00000319445:exon2:c.606+1G>C;ENST00000358653:exon2:c.606+1G>C;ENST00000360242:exon2:c.606+1G>C;ENST00000584156:exon1:c.606+1G>C)	.	.	0.999977614472875	0.802
18	66504607	G	T	18	68837370	y	y	splicing	CCDC102B(NM_001093729:exon4:c.606+1G>T;NM_024781:exon2:c.606+1G>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon4:c.606+1G>T;ENST00000319445:exon2:c.606+1G>T;ENST00000358653:exon2:c.606+1G>T;ENST00000360242:exon2:c.606+1G>T;ENST00000584156:exon1:c.606+1G>T)	.	.	0.999958003653399	0.81
18	66504608	T	A	18	68837371	y	y	splicing	CCDC102B(NM_001093729:exon4:c.606+2T>A;NM_024781:exon2:c.606+2T>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon4:c.606+2T>A;ENST00000319445:exon2:c.606+2T>A;ENST00000358653:exon2:c.606+2T>A;ENST00000360242:exon2:c.606+2T>A;ENST00000584156:exon1:c.606+2T>A)	.	.	0.999962958601995	0.824
18	66504608	T	C	18	68837371	y	y	splicing	CCDC102B(NM_001093729:exon4:c.606+2T>C;NM_024781:exon2:c.606+2T>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon4:c.606+2T>C;ENST00000319445:exon2:c.606+2T>C;ENST00000358653:exon2:c.606+2T>C;ENST00000360242:exon2:c.606+2T>C;ENST00000584156:exon1:c.606+2T>C)	.	.	0.888714660764904	0.522
18	66504608	T	G	18	68837371	y	y	splicing	CCDC102B(NM_001093729:exon4:c.606+2T>G;NM_024781:exon2:c.606+2T>G)	.	.	splicing	ENSG00000150636(ENST00000584775:exon4:c.606+2T>G;ENST00000319445:exon2:c.606+2T>G;ENST00000358653:exon2:c.606+2T>G;ENST00000360242:exon2:c.606+2T>G;ENST00000584156:exon1:c.606+2T>G)	.	.	0.999962958601995	0.794
18	66504609	A	C	18	68837372	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.74807777914981	0.566
18	66504609	A	G	18	68837372	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.96057461624631E-4	0.062
18	66504609	A	T	18	68837372	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.772202654277043	0.51
18	66504610	A	C	18	68837373	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.256242259997116	0.526
18	66504610	A	G	18	68837373	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.394182037307285	0.436
18	66504610	A	T	18	68837373	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.402343919499592	0.508
18	66504611	G	A	18	68837374	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.588172804230504	0.542
18	66504611	G	C	18	68837374	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.452537606495068	0.462
18	66504611	G	T	18	68837374	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.75338579918733	0.47
18	66504612	A	C	18	68837375	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.01171413382428E-5	0.01
18	66504612	A	G	18	68837375	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.55302285354669E-5	0.002
18	66504612	A	T	18	68837375	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.42648515104035E-5	0.0
18	66504613	A	C	18	68837376	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.85878141671679E-5	0.0
18	66504613	A	G	18	68837376	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.64665683744759E-5	0.0
18	66504613	A	T	18	68837376	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.38898526284669E-5	0.0
18	66504614	A	C	18	68837377	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.50312366030491E-5	0.0
18	66504614	A	G	18	68837377	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.50312366030491E-5	0.0
18	66504614	A	T	18	68837377	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.26478224793163E-5	0.0
18	66505931	T	A	18	68838694	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0397871394608052	0.352
18	66505931	T	C	18	68838694	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.79199140654778E-4	0.008
18	66505931	T	G	18	68838694	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.053805683024635	0.324
18	66505932	T	A	18	68838695	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.262452027319895	0.358
18	66505932	T	C	18	68838695	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00313191411289899	0.11
18	66505932	T	G	18	68838695	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0533800720521582	0.382
18	66505933	T	A	18	68838696	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00354942431095624	0.08
18	66505933	T	C	18	68838696	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.07849203452592E-5	0.0
18	66505933	T	G	18	68838696	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00193267851649688	0.094
18	66505934	T	A	18	68838697	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.99974624727491	0.968
18	66505934	T	C	18	68838697	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.08082472707444E-5	0.002
18	66505934	T	G	18	68838697	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0027899827488935	0.076
18	66505935	G	A	18	68838698	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.65464499585008E-4	0.0
18	66505935	G	C	18	68838698	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.47800994776456E-5	0.0
18	66505935	G	T	18	68838698	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.49254791359879E-5	0.006
18	66505936	T	A	18	68838699	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0213464416339689	0.17
18	66505936	T	C	18	68838699	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.26152847230904E-5	0.0
18	66505936	T	G	18	68838699	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00556112113027319	0.1
18	66505937	C	A	18	68838700	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.6786502931427E-4	0.054
18	66505937	C	G	18	68838700	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.19571131940291E-4	0.042
18	66505937	C	T	18	68838700	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.10773746970948E-5	0.0
18	66505938	T	A	18	68838701	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.251589259758992	0.38
18	66505938	T	C	18	68838701	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.55037353108094E-5	0.012
18	66505938	T	G	18	68838701	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.561741460901048	0.35
18	66505939	T	A	18	68838702	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.33911601463717E-4	0.0
18	66505939	T	C	18	68838702	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.65931238163825E-5	0.0
18	66505939	T	G	18	68838702	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.78684081159298E-5	0.002
18	66505940	C	A	18	68838703	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.447548106655786	0.424
18	66505940	C	G	18	68838703	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999468517335525	0.854
18	66505940	C	T	18	68838703	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00493530971743679	0.196
18	66505941	A	C	18	68838704	y	y	splicing	CCDC102B(NM_001093729:exon5:c.607-2A>C;NM_024781:exon3:c.607-2A>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.607-2A>C;ENST00000319445:exon3:c.607-2A>C;ENST00000358653:exon3:c.607-2A>C;ENST00000360242:exon3:c.607-2A>C;ENST00000584156:exon2:c.607-2A>C)	.	.	0.999971317418422	0.892
18	66505941	A	G	18	68838704	y	y	splicing	CCDC102B(NM_001093729:exon5:c.607-2A>G;NM_024781:exon3:c.607-2A>G)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.607-2A>G;ENST00000319445:exon3:c.607-2A>G;ENST00000358653:exon3:c.607-2A>G;ENST00000360242:exon3:c.607-2A>G;ENST00000584156:exon2:c.607-2A>G)	.	.	0.999971317418422	0.892
18	66505941	A	T	18	68838704	y	y	splicing	CCDC102B(NM_001093729:exon5:c.607-2A>T;NM_024781:exon3:c.607-2A>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.607-2A>T;ENST00000319445:exon3:c.607-2A>T;ENST00000358653:exon3:c.607-2A>T;ENST00000360242:exon3:c.607-2A>T;ENST00000584156:exon2:c.607-2A>T)	.	.	0.999964896440643	0.93
18	66505942	G	A	18	68838705	y	y	splicing	CCDC102B(NM_001093729:exon5:c.607-1G>A;NM_024781:exon3:c.607-1G>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.607-1G>A;ENST00000319445:exon3:c.607-1G>A;ENST00000358653:exon3:c.607-1G>A;ENST00000360242:exon3:c.607-1G>A;ENST00000584156:exon2:c.607-1G>A)	.	.	0.999968430223941	0.868
18	66505942	G	C	18	68838705	y	y	splicing	CCDC102B(NM_001093729:exon5:c.607-1G>C;NM_024781:exon3:c.607-1G>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.607-1G>C;ENST00000319445:exon3:c.607-1G>C;ENST00000358653:exon3:c.607-1G>C;ENST00000360242:exon3:c.607-1G>C;ENST00000584156:exon2:c.607-1G>C)	.	.	0.999965143305126	0.876
18	66505942	G	T	18	68838705	y	y	splicing	CCDC102B(NM_001093729:exon5:c.607-1G>T;NM_024781:exon3:c.607-1G>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.607-1G>T;ENST00000319445:exon3:c.607-1G>T;ENST00000358653:exon3:c.607-1G>T;ENST00000360242:exon3:c.607-1G>T;ENST00000584156:exon2:c.607-1G>T)	.	.	0.999968430223941	0.882
18	66505943	G	A	18	68838706	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.G607A:p.E203K;CCDC102B:NM_024781:exon3:c.G607A:p.E203K;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.G607A:p.E203K;ENSG00000150636:ENST00000584775:exon5:c.G607A:p.E203K;ENSG00000150636:ENST00000584156:exon2:c.G607A:p.E203K;ENSG00000150636:ENST00000360242:exon3:c.G607A:p.E203K;ENSG00000150636:ENST00000358653:exon3:c.G607A:p.E203K;	0.0988431978821812	0.286
18	66505943	G	C	18	68838706	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.G607C:p.E203Q;CCDC102B:NM_024781:exon3:c.G607C:p.E203Q;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.G607C:p.E203Q;ENSG00000150636:ENST00000584775:exon5:c.G607C:p.E203Q;ENSG00000150636:ENST00000584156:exon2:c.G607C:p.E203Q;ENSG00000150636:ENST00000360242:exon3:c.G607C:p.E203Q;ENSG00000150636:ENST00000358653:exon3:c.G607C:p.E203Q;	0.318084562936235	0.452
18	66505943	G	T	18	68838706	y	y	exonic	CCDC102B	stopgain SNV	CCDC102B:NM_001093729:exon5:c.G607T:p.E203X;CCDC102B:NM_024781:exon3:c.G607T:p.E203X;	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000319445:exon3:c.G607T:p.E203X;ENSG00000150636:ENST00000584775:exon5:c.G607T:p.E203X;ENSG00000150636:ENST00000584156:exon2:c.G607T:p.E203X;ENSG00000150636:ENST00000360242:exon3:c.G607T:p.E203X;ENSG00000150636:ENST00000358653:exon3:c.G607T:p.E203X;	0.997851328627499	0.952
18	66505944	A	C	18	68838707	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.A608C:p.E203A;CCDC102B:NM_024781:exon3:c.A608C:p.E203A;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A608C:p.E203A;ENSG00000150636:ENST00000584775:exon5:c.A608C:p.E203A;ENSG00000150636:ENST00000584156:exon2:c.A608C:p.E203A;ENSG00000150636:ENST00000360242:exon3:c.A608C:p.E203A;ENSG00000150636:ENST00000358653:exon3:c.A608C:p.E203A;	3.78763494022673E-4	0.016
18	66505944	A	G	18	68838707	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.A608G:p.E203G;CCDC102B:NM_024781:exon3:c.A608G:p.E203G;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A608G:p.E203G;ENSG00000150636:ENST00000584775:exon5:c.A608G:p.E203G;ENSG00000150636:ENST00000584156:exon2:c.A608G:p.E203G;ENSG00000150636:ENST00000360242:exon3:c.A608G:p.E203G;ENSG00000150636:ENST00000358653:exon3:c.A608G:p.E203G;	3.00658430192544E-4	0.008
18	66505944	A	T	18	68838707	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.A608T:p.E203V;CCDC102B:NM_024781:exon3:c.A608T:p.E203V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A608T:p.E203V;ENSG00000150636:ENST00000584775:exon5:c.A608T:p.E203V;ENSG00000150636:ENST00000584156:exon2:c.A608T:p.E203V;ENSG00000150636:ENST00000360242:exon3:c.A608T:p.E203V;ENSG00000150636:ENST00000358653:exon3:c.A608T:p.E203V;	1.66608068717215E-4	0.0
18	66506161	A	C	18	68838924	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.A825C:p.R275S;CCDC102B:NM_024781:exon3:c.A825C:p.R275S;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A825C:p.R275S;ENSG00000150636:ENST00000584775:exon5:c.A825C:p.R275S;ENSG00000150636:ENST00000584156:exon2:c.A825C:p.R275S;ENSG00000150636:ENST00000360242:exon3:c.A825C:p.R275S;ENSG00000150636:ENST00000358653:exon3:c.A825C:p.R275S;	1.64634359358674E-4	0.0
18	66506161	A	G	18	68838924	y	y	exonic	CCDC102B	synonymous SNV	CCDC102B:NM_001093729:exon5:c.A825G:p.R275R;CCDC102B:NM_024781:exon3:c.A825G:p.R275R;	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A825G:p.R275R;ENSG00000150636:ENST00000584775:exon5:c.A825G:p.R275R;ENSG00000150636:ENST00000584156:exon2:c.A825G:p.R275R;ENSG00000150636:ENST00000360242:exon3:c.A825G:p.R275R;ENSG00000150636:ENST00000358653:exon3:c.A825G:p.R275R;	1.17224698086162E-4	0.006
18	66506161	A	T	18	68838924	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.A825T:p.R275S;CCDC102B:NM_024781:exon3:c.A825T:p.R275S;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A825T:p.R275S;ENSG00000150636:ENST00000584775:exon5:c.A825T:p.R275S;ENSG00000150636:ENST00000584156:exon2:c.A825T:p.R275S;ENSG00000150636:ENST00000360242:exon3:c.A825T:p.R275S;ENSG00000150636:ENST00000358653:exon3:c.A825T:p.R275S;	9.47900716934922E-4	0.124
18	66506162	G	A	18	68838925	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.G826A:p.E276K;CCDC102B:NM_024781:exon3:c.G826A:p.E276K;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.G826A:p.E276K;ENSG00000150636:ENST00000584775:exon5:c.G826A:p.E276K;ENSG00000150636:ENST00000584156:exon2:c.G826A:p.E276K;ENSG00000150636:ENST00000360242:exon3:c.G826A:p.E276K;ENSG00000150636:ENST00000358653:exon3:c.G826A:p.D276N;	1.07678279379376E-4	0.022
18	66506162	G	C	18	68838925	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.G826C:p.E276Q;CCDC102B:NM_024781:exon3:c.G826C:p.E276Q;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.G826C:p.E276Q;ENSG00000150636:ENST00000584775:exon5:c.G826C:p.E276Q;ENSG00000150636:ENST00000584156:exon2:c.G826C:p.E276Q;ENSG00000150636:ENST00000360242:exon3:c.G826C:p.E276Q;ENSG00000150636:ENST00000358653:exon3:c.G826C:p.D276H;	1.90424615470489E-4	0.01
18	66506162	G	T	18	68838925	y	y	exonic	CCDC102B	stopgain SNV	CCDC102B:NM_001093729:exon5:c.G826T:p.E276X;CCDC102B:NM_024781:exon3:c.G826T:p.E276X;	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000319445:exon3:c.G826T:p.E276X;ENSG00000150636:ENST00000584775:exon5:c.G826T:p.E276X;ENSG00000150636:ENST00000584156:exon2:c.G826T:p.E276X;ENSG00000150636:ENST00000360242:exon3:c.G826T:p.E276X;	0.0299219968423203	0.252
18	66506163	A	C	18	68838926	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.A827C:p.E276A;CCDC102B:NM_024781:exon3:c.A827C:p.E276A;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A827C:p.E276A;ENSG00000150636:ENST00000584775:exon5:c.A827C:p.E276A;ENSG00000150636:ENST00000584156:exon2:c.A827C:p.E276A;ENSG00000150636:ENST00000360242:exon3:c.A827C:p.E276A;ENSG00000150636:ENST00000358653:exon3:c.A827C:p.D276A;	0.00578024683936917	0.118
18	66506163	A	G	18	68838926	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.A827G:p.E276G;CCDC102B:NM_024781:exon3:c.A827G:p.E276G;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A827G:p.E276G;ENSG00000150636:ENST00000584775:exon5:c.A827G:p.E276G;ENSG00000150636:ENST00000584156:exon2:c.A827G:p.E276G;ENSG00000150636:ENST00000360242:exon3:c.A827G:p.E276G;ENSG00000150636:ENST00000358653:exon3:c.A827G:p.D276G;	8.59746813231277E-4	0.034
18	66506163	A	T	18	68838926	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon5:c.A827T:p.E276V;CCDC102B:NM_024781:exon3:c.A827T:p.E276V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon3:c.A827T:p.E276V;ENSG00000150636:ENST00000584775:exon5:c.A827T:p.E276V;ENSG00000150636:ENST00000584156:exon2:c.A827T:p.E276V;ENSG00000150636:ENST00000360242:exon3:c.A827T:p.E276V;ENSG00000150636:ENST00000358653:exon3:c.A827T:p.D276V;	0.0161071344787589	0.226
18	66506164	G	A	18	68838927	y	y	splicing	CCDC102B(NM_001093729:exon5:c.827+1G>A;NM_024781:exon3:c.827+1G>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.827+1G>A;ENST00000319445:exon3:c.827+1G>A;ENST00000358653:exon3:c.827+1G>A;ENST00000360242:exon3:c.827+1G>A;ENST00000584156:exon2:c.827+1G>A)	.	.	0.999986675681007	0.932
18	66506164	G	C	18	68838927	y	y	splicing	CCDC102B(NM_001093729:exon5:c.827+1G>C;NM_024781:exon3:c.827+1G>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.827+1G>C;ENST00000319445:exon3:c.827+1G>C;ENST00000358653:exon3:c.827+1G>C;ENST00000360242:exon3:c.827+1G>C;ENST00000584156:exon2:c.827+1G>C)	.	.	0.999976137096505	0.934
18	66506164	G	T	18	68838927	y	y	splicing	CCDC102B(NM_001093729:exon5:c.827+1G>T;NM_024781:exon3:c.827+1G>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.827+1G>T;ENST00000319445:exon3:c.827+1G>T;ENST00000358653:exon3:c.827+1G>T;ENST00000360242:exon3:c.827+1G>T;ENST00000584156:exon2:c.827+1G>T)	.	.	0.999986675681007	0.932
18	66506165	T	A	18	68838928	y	y	splicing	CCDC102B(NM_001093729:exon5:c.827+2T>A;NM_024781:exon3:c.827+2T>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.827+2T>A;ENST00000319445:exon3:c.827+2T>A;ENST00000358653:exon3:c.827+2T>A;ENST00000360242:exon3:c.827+2T>A;ENST00000584156:exon2:c.827+2T>A)	.	.	0.999978952611685	0.924
18	66506165	T	C	18	68838928	y	y	splicing	CCDC102B(NM_001093729:exon5:c.827+2T>C;NM_024781:exon3:c.827+2T>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.827+2T>C;ENST00000319445:exon3:c.827+2T>C;ENST00000358653:exon3:c.827+2T>C;ENST00000360242:exon3:c.827+2T>C;ENST00000584156:exon2:c.827+2T>C)	.	.	0.996404367543976	0.66
18	66506165	T	G	18	68838928	y	y	splicing	CCDC102B(NM_001093729:exon5:c.827+2T>G;NM_024781:exon3:c.827+2T>G)	.	.	splicing	ENSG00000150636(ENST00000584775:exon5:c.827+2T>G;ENST00000319445:exon3:c.827+2T>G;ENST00000358653:exon3:c.827+2T>G;ENST00000360242:exon3:c.827+2T>G;ENST00000584156:exon2:c.827+2T>G)	.	.	0.999978952611685	0.926
18	66506166	A	C	18	68838929	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999288887840671	0.888
18	66506166	A	G	18	68838929	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0140188985444486	0.138
18	66506166	A	T	18	68838929	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999087531730505	0.914
18	66506167	A	C	18	68838930	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.957854586588408	0.686
18	66506167	A	G	18	68838930	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.985223433307467	0.732
18	66506167	A	T	18	68838930	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.99529429977596	0.882
18	66506168	G	A	18	68838931	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999989935524559	0.994
18	66506168	G	C	18	68838931	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.9999833880009	0.99
18	66506168	G	T	18	68838931	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.9999833880009	0.984
18	66506169	T	A	18	68838932	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.979617991071019	0.588
18	66506169	T	C	18	68838932	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.902393601673876	0.574
18	66506169	T	G	18	68838932	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.994641783195358	0.774
18	66506170	G	A	18	68838933	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.44691380130809E-4	0.006
18	66506170	G	C	18	68838933	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.95048232548605E-4	0.002
18	66506170	G	T	18	68838933	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.86351849847316E-4	0.002
18	66506171	C	A	18	68838934	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.02628006241781E-4	0.0
18	66506171	C	G	18	68838934	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.02628006241781E-4	0.0
18	66506171	C	T	18	68838934	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.36556279365992E-4	0.0
18	66506184	C	A	18	68838947	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.21133756078422E-5	0.0
18	66506184	C	G	18	68838947	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.93008933363103E-5	0.0
18	66506184	C	T	18	68838947	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.21133756078422E-5	0.0
18	66506185	C	A	18	68838948	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.44101454748109E-4	0.008
18	66506185	C	G	18	68838948	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.07902708129146E-4	0.006
18	66506185	C	T	18	68838948	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.74088084155096E-5	0.008
18	66506186	C	A	18	68838949	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.30945796578933E-5	0.002
18	66506186	C	G	18	68838949	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.30945796578933E-5	0.0
18	66506186	C	T	18	68838949	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.30945796578933E-5	0.0
18	66506187	T	A	18	68838950	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.63995423123284E-4	0.0
18	66506187	T	C	18	68838950	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.40940918270023E-4	0.0
18	66506187	T	G	18	68838950	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.40940918270023E-4	0.0
18	66506188	T	A	18	68838951	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.24975915077222E-5	0.002
18	66506188	T	C	18	68838951	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.24975915077222E-5	0.0
18	66506188	T	G	18	68838951	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.24975915077222E-5	0.0
18	66506189	A	C	18	68838952	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.33152596879021E-4	0.018
18	66506189	A	G	18	68838952	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.33152596879021E-4	0.018
18	66506189	A	T	18	68838952	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.33152596879021E-4	0.018
18	66506190	A	C	18	68838953	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.00925306948278E-4	0.0
18	66506190	A	G	18	68838953	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.00925306948278E-4	0.0
18	66506190	A	T	18	68838953	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.11389651227104E-4	0.0
18	66506191	C	A	18	68838954	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.78684081159298E-5	0.004
18	66506191	C	G	18	68838954	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.78684081159298E-5	0.004
18	66506191	C	T	18	68838954	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.78684081159298E-5	0.004
18	66506192	C	A	18	68838955	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.02642503822698E-5	0.018
18	66506192	C	G	18	68838955	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.04701645548368E-5	0.01
18	66506192	C	T	18	68838955	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.02642503822698E-5	0.006
18	66506193	A	C	18	68838956	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00253248885272726	0.022
18	66506193	A	G	18	68838956	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00253248885272726	0.022
18	66506193	A	T	18	68838956	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00177559585877983	0.024
18	66506194	A	C	18	68838957	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.828-2A>C)	.	.	4.78293834274294E-4	0.016
18	66506194	A	G	18	68838957	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.828-2A>G)	.	.	4.78293834274294E-4	0.016
18	66506194	A	T	18	68838957	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.828-2A>T)	.	.	6.19764423687035E-4	0.016
18	66506195	G	A	18	68838958	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.828-1G>A)	.	.	4.29994972594758E-5	0.008
18	66506195	G	C	18	68838958	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.828-1G>C)	.	.	4.29994972594758E-5	0.006
18	66506195	G	T	18	68838958	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.828-1G>T)	.	.	4.29994972594758E-5	0.006
18	66506196	T	A	18	68838959	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.T828A:p.D276E;	2.13105871323179E-5	0.004
18	66506196	T	C	18	68838959	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.T828C:p.D276D;	5.52086759380612E-5	0.006
18	66506196	T	G	18	68838959	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.T828G:p.D276E;	2.13105871323179E-5	0.004
18	66506197	C	A	18	68838960	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.C829A:p.L277I;	9.16811292047004E-4	0.032
18	66506197	C	G	18	68838960	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.C829G:p.L277V;	8.28677872108501E-4	0.008
18	66506197	C	T	18	68838960	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.C829T:p.L277L;	3.35115461238441E-4	0.0
18	66506236	T	A	18	68838999	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.T868A:p.L290M;	1.98561944552076E-4	0.004
18	66506236	T	C	18	68838999	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.T868C:p.L290L;	1.67738868662274E-5	0.0
18	66506236	T	G	18	68838999	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.T868G:p.L290V;	1.06520082605731E-4	0.0
18	66506237	T	A	18	68839000	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000358653:exon4:c.T869A:p.L290X;	0.00680265066555586	0.158
18	66506237	T	C	18	68839000	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.T869C:p.L290S;	2.32629098924477E-5	0.104
18	66506237	T	G	18	68839000	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.T869G:p.L290W;	1.49972364223097E-4	0.052
18	66506238	G	A	18	68839001	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.G870A:p.L290L;	6.270921211638E-5	0.006
18	66506238	G	C	18	68839001	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.G870C:p.L290F;	6.5908222467397E-5	0.002
18	66506238	G	T	18	68839001	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon4:c.G870T:p.L290F;	6.5908222467397E-5	0.002
18	66506239	G	A	18	68839002	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.870+1G>A)	.	.	2.3994564522384E-5	0.01
18	66506239	G	C	18	68839002	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.870+1G>C)	.	.	2.3994564522384E-5	0.022
18	66506239	G	T	18	68839002	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.870+1G>T)	.	.	2.3994564522384E-5	0.01
18	66506240	T	A	18	68839003	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.870+2T>A)	.	.	2.63360899965148E-5	0.0
18	66506240	T	C	18	68839003	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.870+2T>C)	.	.	2.63360899965148E-5	0.0
18	66506240	T	G	18	68839003	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon4:c.870+2T>G)	.	.	2.63360899965148E-5	0.0
18	66506241	C	A	18	68839004	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.07620641825897E-5	0.002
18	66506241	C	G	18	68839004	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.07620641825897E-5	0.002
18	66506241	C	T	18	68839004	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.31929338280547E-5	0.004
18	66506242	A	C	18	68839005	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.42206730061288E-5	0.0
18	66506242	A	G	18	68839005	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.42206730061288E-5	0.0
18	66506242	A	T	18	68839005	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.21978182991299E-5	0.0
18	66506243	T	A	18	68839006	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.53615724193562E-5	0.002
18	66506243	T	C	18	68839006	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.53615724193562E-5	0.002
18	66506243	T	G	18	68839006	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.53615724193562E-5	0.002
18	66506244	T	A	18	68839007	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.53814986019981E-5	0.002
18	66506244	T	C	18	68839007	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.53814986019981E-5	0.0
18	66506244	T	G	18	68839007	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.53814986019981E-5	0.0
18	66506245	T	A	18	68839008	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.4243997895107E-5	0.016
18	66506245	T	C	18	68839008	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.4243997895107E-5	0.006
18	66506245	T	G	18	68839008	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.4243997895107E-5	0.006
18	66506246	G	A	18	68839009	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.46039206459424E-4	0.0
18	66506246	G	C	18	68839009	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.41036740142694E-4	0.002
18	66506246	G	T	18	68839009	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.46039206459424E-4	0.0
18	66513538	T	A	18	68846301	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0510669797840425	0.43
18	66513538	T	C	18	68846301	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.15635239782243E-4	0.088
18	66513538	T	G	18	68846301	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00242308348006897	0.31
18	66513539	A	C	18	68846302	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.98501777021816E-5	0.0
18	66513539	A	G	18	68846302	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.6262849731022E-5	0.0
18	66513539	A	T	18	68846302	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.09694872752201E-4	0.03
18	66513540	A	C	18	68846303	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.45612225627207E-5	0.002
18	66513540	A	G	18	68846303	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.777832267388071	0.838
18	66513540	A	T	18	68846303	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.78812221796718E-5	0.008
18	66513541	A	C	18	68846304	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.42002150177557E-4	0.022
18	66513541	A	G	18	68846304	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999525907578556	0.936
18	66513541	A	T	18	68846304	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.94834162169133E-4	0.048
18	66513542	T	A	18	68846305	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0448519349119227	0.506
18	66513542	T	C	18	68846305	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.71384785098459E-4	0.012
18	66513542	T	G	18	68846305	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999912395539428	0.998
18	66513543	T	A	18	68846306	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.816442577445E-4	0.17
18	66513543	T	C	18	68846306	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.50104624758446E-5	0.042
18	66513543	T	G	18	68846306	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.11935941661435E-4	0.156
18	66513544	A	C	18	68846307	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.03328289868144E-5	0.05
18	66513544	A	G	18	68846307	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.00470055372071E-5	0.0
18	66513544	A	T	18	68846307	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.07160361998701E-5	0.014
18	66513545	T	A	18	68846308	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.987555178927509	0.74
18	66513545	T	C	18	68846308	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0210383343026754	0.358
18	66513545	T	G	18	68846308	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999960322882341	0.966
18	66513546	T	A	18	68846309	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0105385264278695	0.136
18	66513546	T	C	18	68846309	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00767237918966267	0.098
18	66513546	T	G	18	68846309	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0233662037062455	0.184
18	66513547	T	A	18	68846310	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.972069336604327	0.696
18	66513547	T	C	18	68846310	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.35872199498777E-4	0.044
18	66513547	T	G	18	68846310	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.998063465206712	0.82
18	66513548	A	C	18	68846311	y	y	splicing	CCDC102B(NM_001093729:exon6:c.828-2A>C;NM_024781:exon4:c.828-2A>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.828-2A>C;ENST00000319445:exon4:c.828-2A>C;ENST00000358653:exon5:c.871-2A>C;ENST00000360242:exon4:c.828-2A>C;ENST00000584156:exon3:c.828-2A>C)	.	.	0.999976254090479	0.94
18	66513548	A	G	18	68846311	y	y	splicing	CCDC102B(NM_001093729:exon6:c.828-2A>G;NM_024781:exon4:c.828-2A>G)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.828-2A>G;ENST00000319445:exon4:c.828-2A>G;ENST00000358653:exon5:c.871-2A>G;ENST00000360242:exon4:c.828-2A>G;ENST00000584156:exon3:c.828-2A>G)	.	.	0.999976254090479	0.94
18	66513548	A	T	18	68846311	y	y	splicing	CCDC102B(NM_001093729:exon6:c.828-2A>T;NM_024781:exon4:c.828-2A>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.828-2A>T;ENST00000319445:exon4:c.828-2A>T;ENST00000358653:exon5:c.871-2A>T;ENST00000360242:exon4:c.828-2A>T;ENST00000584156:exon3:c.828-2A>T)	.	.	0.999986741007567	0.942
18	66513549	G	A	18	68846312	y	y	splicing	CCDC102B(NM_001093729:exon6:c.828-1G>A;NM_024781:exon4:c.828-1G>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.828-1G>A;ENST00000319445:exon4:c.828-1G>A;ENST00000358653:exon5:c.871-1G>A;ENST00000360242:exon4:c.828-1G>A;ENST00000584156:exon3:c.828-1G>A)	.	.	0.999989125585301	0.942
18	66513549	G	C	18	68846312	y	y	splicing	CCDC102B(NM_001093729:exon6:c.828-1G>C;NM_024781:exon4:c.828-1G>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.828-1G>C;ENST00000319445:exon4:c.828-1G>C;ENST00000358653:exon5:c.871-1G>C;ENST00000360242:exon4:c.828-1G>C;ENST00000584156:exon3:c.828-1G>C)	.	.	0.999989125585301	0.942
18	66513549	G	T	18	68846312	y	y	splicing	CCDC102B(NM_001093729:exon6:c.828-1G>T;NM_024781:exon4:c.828-1G>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.828-1G>T;ENST00000319445:exon4:c.828-1G>T;ENST00000358653:exon5:c.871-1G>T;ENST00000360242:exon4:c.828-1G>T;ENST00000584156:exon3:c.828-1G>T)	.	.	0.999989125585301	0.942
18	66513550	A	C	18	68846313	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.A828C:p.E276D;CCDC102B:NM_024781:exon4:c.A828C:p.E276D;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.A828C:p.E276D;ENSG00000150636:ENST00000584775:exon6:c.A828C:p.E276D;ENSG00000150636:ENST00000584156:exon3:c.A828C:p.E276D;ENSG00000150636:ENST00000360242:exon4:c.A828C:p.E276D;ENSG00000150636:ENST00000358653:exon5:c.A871C:p.N291H;	0.00983563103212073	0.13
18	66513550	A	G	18	68846313	y	y	exonic	CCDC102B	synonymous SNV	CCDC102B:NM_001093729:exon6:c.A828G:p.E276E;CCDC102B:NM_024781:exon4:c.A828G:p.E276E;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon5:c.A871G:p.N291D;	3.36000655311996E-4	0.04
18	66513550	A	T	18	68846313	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.A828T:p.E276D;CCDC102B:NM_024781:exon4:c.A828T:p.E276D;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.A828T:p.E276D;ENSG00000150636:ENST00000584775:exon6:c.A828T:p.E276D;ENSG00000150636:ENST00000584156:exon3:c.A828T:p.E276D;ENSG00000150636:ENST00000360242:exon4:c.A828T:p.E276D;ENSG00000150636:ENST00000358653:exon5:c.A871T:p.N291Y;	0.0184427065305749	0.116
18	66513551	A	C	18	68846314	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.A829C:p.M277L;CCDC102B:NM_024781:exon4:c.A829C:p.M277L;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.A829C:p.M277L;ENSG00000150636:ENST00000584775:exon6:c.A829C:p.M277L;ENSG00000150636:ENST00000584156:exon3:c.A829C:p.M277L;ENSG00000150636:ENST00000360242:exon4:c.A829C:p.M277L;ENSG00000150636:ENST00000358653:exon5:c.A872C:p.N291T;	0.00826300519660433	0.098
18	66513551	A	G	18	68846314	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.A829G:p.M277V;CCDC102B:NM_024781:exon4:c.A829G:p.M277V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.A829G:p.M277V;ENSG00000150636:ENST00000584775:exon6:c.A829G:p.M277V;ENSG00000150636:ENST00000584156:exon3:c.A829G:p.M277V;ENSG00000150636:ENST00000360242:exon4:c.A829G:p.M277V;ENSG00000150636:ENST00000358653:exon5:c.A872G:p.N291S;	8.53143273314643E-4	0.034
18	66513551	A	T	18	68846314	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.A829T:p.M277L;CCDC102B:NM_024781:exon4:c.A829T:p.M277L;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.A829T:p.M277L;ENSG00000150636:ENST00000584775:exon6:c.A829T:p.M277L;ENSG00000150636:ENST00000584156:exon3:c.A829T:p.M277L;ENSG00000150636:ENST00000360242:exon4:c.A829T:p.M277L;ENSG00000150636:ENST00000358653:exon5:c.A872T:p.N291I;	8.72648313825336E-4	0.046
18	66513656	G	A	18	68846419	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.G934A:p.E312K;CCDC102B:NM_024781:exon4:c.G934A:p.E312K;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.G934A:p.E312K;ENSG00000150636:ENST00000584775:exon6:c.G934A:p.E312K;ENSG00000150636:ENST00000584156:exon3:c.G934A:p.E312K;ENSG00000150636:ENST00000360242:exon4:c.G934A:p.E312K;	2.32097551675146E-4	0.006
18	66513656	G	C	18	68846419	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.G934C:p.E312Q;CCDC102B:NM_024781:exon4:c.G934C:p.E312Q;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.G934C:p.E312Q;ENSG00000150636:ENST00000584775:exon6:c.G934C:p.E312Q;ENSG00000150636:ENST00000584156:exon3:c.G934C:p.E312Q;ENSG00000150636:ENST00000360242:exon4:c.G934C:p.E312Q;	9.22156220667089E-5	0.0
18	66513656	G	T	18	68846419	y	y	exonic	CCDC102B	stopgain SNV	CCDC102B:NM_001093729:exon6:c.G934T:p.E312X;CCDC102B:NM_024781:exon4:c.G934T:p.E312X;	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000319445:exon4:c.G934T:p.E312X;ENSG00000150636:ENST00000584775:exon6:c.G934T:p.E312X;ENSG00000150636:ENST00000584156:exon3:c.G934T:p.E312X;ENSG00000150636:ENST00000360242:exon4:c.G934T:p.E312X;	0.0423830890891874	0.394
18	66513657	A	C	18	68846420	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.A935C:p.E312A;CCDC102B:NM_024781:exon4:c.A935C:p.E312A;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.A935C:p.E312A;ENSG00000150636:ENST00000584775:exon6:c.A935C:p.E312A;ENSG00000150636:ENST00000584156:exon3:c.A935C:p.E312A;ENSG00000150636:ENST00000360242:exon4:c.A935C:p.E312A;	0.339465402784768	0.57
18	66513657	A	G	18	68846420	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.A935G:p.E312G;CCDC102B:NM_024781:exon4:c.A935G:p.E312G;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.A935G:p.E312G;ENSG00000150636:ENST00000584775:exon6:c.A935G:p.E312G;ENSG00000150636:ENST00000584156:exon3:c.A935G:p.E312G;ENSG00000150636:ENST00000360242:exon4:c.A935G:p.E312G;	0.978343672972772	0.706
18	66513657	A	T	18	68846420	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.A935T:p.E312V;CCDC102B:NM_024781:exon4:c.A935T:p.E312V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.A935T:p.E312V;ENSG00000150636:ENST00000584775:exon6:c.A935T:p.E312V;ENSG00000150636:ENST00000584156:exon3:c.A935T:p.E312V;ENSG00000150636:ENST00000360242:exon4:c.A935T:p.E312V;	0.980465718209841	0.706
18	66513658	G	A	18	68846421	y	y	exonic	CCDC102B	synonymous SNV	CCDC102B:NM_001093729:exon6:c.G936A:p.E312E;CCDC102B:NM_024781:exon4:c.G936A:p.E312E;	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.G936A:p.E312E;ENSG00000150636:ENST00000584775:exon6:c.G936A:p.E312E;ENSG00000150636:ENST00000584156:exon3:c.G936A:p.E312E;ENSG00000150636:ENST00000360242:exon4:c.G936A:p.E312E;	0.999907696147823	0.99
18	66513658	G	C	18	68846421	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.G936C:p.E312D;CCDC102B:NM_024781:exon4:c.G936C:p.E312D;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.G936C:p.E312D;ENSG00000150636:ENST00000584775:exon6:c.G936C:p.E312D;ENSG00000150636:ENST00000584156:exon3:c.G936C:p.E312D;ENSG00000150636:ENST00000360242:exon4:c.G936C:p.E312D;	0.999924770657726	0.956
18	66513658	G	T	18	68846421	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon6:c.G936T:p.E312D;CCDC102B:NM_024781:exon4:c.G936T:p.E312D;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon4:c.G936T:p.E312D;ENSG00000150636:ENST00000584775:exon6:c.G936T:p.E312D;ENSG00000150636:ENST00000584156:exon3:c.G936T:p.E312D;ENSG00000150636:ENST00000360242:exon4:c.G936T:p.E312D;	0.999835290485068	0.916
18	66513659	G	A	18	68846422	y	y	splicing	CCDC102B(NM_001093729:exon6:c.936+1G>A;NM_024781:exon4:c.936+1G>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.936+1G>A;ENST00000319445:exon4:c.936+1G>A;ENST00000360242:exon4:c.936+1G>A;ENST00000584156:exon3:c.936+1G>A)	.	.	0.999979679580461	0.938
18	66513659	G	C	18	68846422	y	y	splicing	CCDC102B(NM_001093729:exon6:c.936+1G>C;NM_024781:exon4:c.936+1G>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.936+1G>C;ENST00000319445:exon4:c.936+1G>C;ENST00000360242:exon4:c.936+1G>C;ENST00000584156:exon3:c.936+1G>C)	.	.	0.999979679580461	0.936
18	66513659	G	T	18	68846422	y	y	splicing	CCDC102B(NM_001093729:exon6:c.936+1G>T;NM_024781:exon4:c.936+1G>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.936+1G>T;ENST00000319445:exon4:c.936+1G>T;ENST00000360242:exon4:c.936+1G>T;ENST00000584156:exon3:c.936+1G>T)	.	.	0.999979679580461	0.936
18	66513660	T	A	18	68846423	y	y	splicing	CCDC102B(NM_001093729:exon6:c.936+2T>A;NM_024781:exon4:c.936+2T>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.936+2T>A;ENST00000319445:exon4:c.936+2T>A;ENST00000360242:exon4:c.936+2T>A;ENST00000584156:exon3:c.936+2T>A)	.	.	0.99994568797423	0.944
18	66513660	T	C	18	68846423	y	y	splicing	CCDC102B(NM_001093729:exon6:c.936+2T>C;NM_024781:exon4:c.936+2T>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.936+2T>C;ENST00000319445:exon4:c.936+2T>C;ENST00000360242:exon4:c.936+2T>C;ENST00000584156:exon3:c.936+2T>C)	.	.	0.952527091078767	0.702
18	66513660	T	G	18	68846423	y	y	splicing	CCDC102B(NM_001093729:exon6:c.936+2T>G;NM_024781:exon4:c.936+2T>G)	.	.	splicing	ENSG00000150636(ENST00000584775:exon6:c.936+2T>G;ENST00000319445:exon4:c.936+2T>G;ENST00000360242:exon4:c.936+2T>G;ENST00000584156:exon3:c.936+2T>G)	.	.	0.99994568797423	0.948
18	66513661	A	C	18	68846424	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999662216141971	0.96
18	66513661	A	G	18	68846424	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.991507299091207	0.84
18	66513661	A	T	18	68846424	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.997167316595031	0.916
18	66513662	T	A	18	68846425	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.45028175023922E-5	0.012
18	66513662	T	C	18	68846425	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.0311278111046E-5	0.0
18	66513662	T	G	18	68846425	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.98089145716431E-4	0.006
18	66513663	G	A	18	68846426	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.902391071571791	0.556
18	66513663	G	C	18	68846426	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.891888183105589	0.544
18	66513663	G	T	18	68846426	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.951636357517324	0.57
18	66513664	G	A	18	68846427	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.67898125075978E-5	0.002
18	66513664	G	C	18	68846427	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.34804234922182E-5	0.0
18	66513664	G	T	18	68846427	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.0291873933743E-5	0.0
18	66513665	G	A	18	68846428	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.19413821089626E-4	0.0
18	66513665	G	C	18	68846428	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.11264437551938E-5	0.0
18	66513665	G	T	18	68846428	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.68932966235553E-5	0.002
18	66513666	G	A	18	68846429	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.34691243390461E-5	0.0
18	66513666	G	C	18	68846429	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.195758735279E-4	0.002
18	66513666	G	T	18	68846429	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.4396267464186E-5	0.0
18	66541894	T	A	18	68874657	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	9.58451704203632E-4	0.068
18	66541894	T	C	18	68874657	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.97478105137263E-5	0.0
18	66541894	T	G	18	68874657	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.60118694914973E-4	0.084
18	66541895	T	A	18	68874658	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0238503521785086	0.274
18	66541895	T	C	18	68874658	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00222920538917527	0.116
18	66541895	T	G	18	68874658	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00959678414432242	0.192
18	66541896	T	A	18	68874659	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.53820959437301E-4	0.04
18	66541896	T	C	18	68874659	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.97800372566479E-5	0.0
18	66541896	T	G	18	68874659	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.23789034078174E-4	0.038
18	66541897	C	A	18	68874660	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.59313006294234E-4	0.016
18	66541897	C	G	18	68874660	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.49034318992465E-4	0.006
18	66541897	C	T	18	68874660	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.27464205879284E-5	0.002
18	66541898	T	A	18	68874661	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00233863305045461	0.12
18	66541898	T	C	18	68874661	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.22784014271092E-5	0.0
18	66541898	T	G	18	68874661	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00192831283034892	0.126
18	66541899	T	A	18	68874662	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00692336296690215	0.068
18	66541899	T	C	18	68874662	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.77458108752896E-4	0.002
18	66541899	T	G	18	68874662	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0106785189904137	0.066
18	66541900	T	A	18	68874663	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0170022502752349	0.094
18	66541900	T	C	18	68874663	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	9.90097498926418E-5	0.004
18	66541900	T	G	18	68874663	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00578114938428755	0.104
18	66541901	T	A	18	68874664	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0318790602819364	0.296
18	66541901	T	C	18	68874664	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00447467654557293	0.116
18	66541901	T	G	18	68874664	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.093506760281551	0.324
18	66541902	T	A	18	68874665	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.30805020129458E-5	0.002
18	66541902	T	C	18	68874665	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.23190314600491E-5	0.004
18	66541902	T	G	18	68874665	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.00472015437238E-5	0.006
18	66541903	C	A	18	68874666	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.128185289584567	0.422
18	66541903	C	G	18	68874666	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999877635533765	0.968
18	66541903	C	T	18	68874666	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.002349223009155	0.038
18	66541904	A	C	18	68874667	y	y	splicing	CCDC102B(NM_001093729:exon7:c.937-2A>C;NM_024781:exon5:c.937-2A>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon7:c.937-2A>C;ENST00000319445:exon5:c.937-2A>C;ENST00000358653:exon6:c.937-2A>C;ENST00000360242:exon5:c.937-2A>C;ENST00000584156:exon4:c.937-2A>C)	.	.	0.999980255680118	0.762
18	66541904	A	G	18	68874667	y	y	splicing	CCDC102B(NM_001093729:exon7:c.937-2A>G;NM_024781:exon5:c.937-2A>G)	.	.	splicing	ENSG00000150636(ENST00000584775:exon7:c.937-2A>G;ENST00000319445:exon5:c.937-2A>G;ENST00000358653:exon6:c.937-2A>G;ENST00000360242:exon5:c.937-2A>G;ENST00000584156:exon4:c.937-2A>G)	.	.	0.999980255680118	0.756
18	66541904	A	T	18	68874667	y	y	splicing	CCDC102B(NM_001093729:exon7:c.937-2A>T;NM_024781:exon5:c.937-2A>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon7:c.937-2A>T;ENST00000319445:exon5:c.937-2A>T;ENST00000358653:exon6:c.937-2A>T;ENST00000360242:exon5:c.937-2A>T;ENST00000584156:exon4:c.937-2A>T)	.	.	0.999962958601995	0.794
18	66541905	G	A	18	68874668	y	y	splicing	CCDC102B(NM_001093729:exon7:c.937-1G>A;NM_024781:exon5:c.937-1G>A)	.	.	splicing	ENSG00000150636(ENST00000584775:exon7:c.937-1G>A;ENST00000319445:exon5:c.937-1G>A;ENST00000358653:exon6:c.937-1G>A;ENST00000360242:exon5:c.937-1G>A;ENST00000584156:exon4:c.937-1G>A)	.	.	0.999977614472875	0.738
18	66541905	G	C	18	68874668	y	y	splicing	CCDC102B(NM_001093729:exon7:c.937-1G>C;NM_024781:exon5:c.937-1G>C)	.	.	splicing	ENSG00000150636(ENST00000584775:exon7:c.937-1G>C;ENST00000319445:exon5:c.937-1G>C;ENST00000358653:exon6:c.937-1G>C;ENST00000360242:exon5:c.937-1G>C;ENST00000584156:exon4:c.937-1G>C)	.	.	0.999982312740861	0.752
18	66541905	G	T	18	68874668	y	y	splicing	CCDC102B(NM_001093729:exon7:c.937-1G>T;NM_024781:exon5:c.937-1G>T)	.	.	splicing	ENSG00000150636(ENST00000584775:exon7:c.937-1G>T;ENST00000319445:exon5:c.937-1G>T;ENST00000358653:exon6:c.937-1G>T;ENST00000360242:exon5:c.937-1G>T;ENST00000584156:exon4:c.937-1G>T)	.	.	0.999977614472875	0.744
18	66541906	T	A	18	68874669	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.T937A:p.F313I;CCDC102B:NM_024781:exon5:c.T937A:p.F313I;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.T937A:p.F313I;ENSG00000150636:ENST00000584775:exon7:c.T937A:p.F313I;ENSG00000150636:ENST00000584156:exon4:c.T937A:p.F313I;ENSG00000150636:ENST00000360242:exon5:c.T937A:p.F313I;ENSG00000150636:ENST00000358653:exon6:c.T937A:p.F313I;	2.49914628115587E-5	0.0
18	66541906	T	C	18	68874669	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.T937C:p.F313L;CCDC102B:NM_024781:exon5:c.T937C:p.F313L;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.T937C:p.F313L;ENSG00000150636:ENST00000584775:exon7:c.T937C:p.F313L;ENSG00000150636:ENST00000584156:exon4:c.T937C:p.F313L;ENSG00000150636:ENST00000360242:exon5:c.T937C:p.F313L;ENSG00000150636:ENST00000358653:exon6:c.T937C:p.F313L;	1.17411809032322E-4	0.004
18	66541906	T	G	18	68874669	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.T937G:p.F313V;CCDC102B:NM_024781:exon5:c.T937G:p.F313V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.T937G:p.F313V;ENSG00000150636:ENST00000584775:exon7:c.T937G:p.F313V;ENSG00000150636:ENST00000584156:exon4:c.T937G:p.F313V;ENSG00000150636:ENST00000360242:exon5:c.T937G:p.F313V;ENSG00000150636:ENST00000358653:exon6:c.T937G:p.F313V;	8.60688450761615E-5	0.098
18	66541907	T	A	18	68874670	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.T938A:p.F313Y;CCDC102B:NM_024781:exon5:c.T938A:p.F313Y;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.T938A:p.F313Y;ENSG00000150636:ENST00000584775:exon7:c.T938A:p.F313Y;ENSG00000150636:ENST00000584156:exon4:c.T938A:p.F313Y;ENSG00000150636:ENST00000360242:exon5:c.T938A:p.F313Y;ENSG00000150636:ENST00000358653:exon6:c.T938A:p.F313Y;	0.00182953156314368	0.152
18	66541907	T	C	18	68874670	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.T938C:p.F313S;CCDC102B:NM_024781:exon5:c.T938C:p.F313S;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.T938C:p.F313S;ENSG00000150636:ENST00000584775:exon7:c.T938C:p.F313S;ENSG00000150636:ENST00000584156:exon4:c.T938C:p.F313S;ENSG00000150636:ENST00000360242:exon5:c.T938C:p.F313S;ENSG00000150636:ENST00000358653:exon6:c.T938C:p.F313S;	2.33530770235765E-4	0.156
18	66541907	T	G	18	68874670	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.T938G:p.F313C;CCDC102B:NM_024781:exon5:c.T938G:p.F313C;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.T938G:p.F313C;ENSG00000150636:ENST00000584775:exon7:c.T938G:p.F313C;ENSG00000150636:ENST00000584156:exon4:c.T938G:p.F313C;ENSG00000150636:ENST00000360242:exon5:c.T938G:p.F313C;ENSG00000150636:ENST00000358653:exon6:c.T938G:p.F313C;	1.2259306364784E-4	0.044
18	66542020	G	A	18	68874783	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.G1051A:p.E351K;CCDC102B:NM_024781:exon5:c.G1051A:p.E351K;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.G1051A:p.E351K;ENSG00000150636:ENST00000584156:exon4:c.G1051A:p.E351K;ENSG00000150636:ENST00000360242:exon5:c.G1051A:p.E351K;ENSG00000150636:ENST00000358653:exon6:c.G1051A:p.E351K;	1.33900665007143E-5	0.008
18	66542020	G	C	18	68874783	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.G1051C:p.E351Q;CCDC102B:NM_024781:exon5:c.G1051C:p.E351Q;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.G1051C:p.E351Q;ENSG00000150636:ENST00000584156:exon4:c.G1051C:p.E351Q;ENSG00000150636:ENST00000360242:exon5:c.G1051C:p.E351Q;ENSG00000150636:ENST00000358653:exon6:c.G1051C:p.E351Q;	1.78516997787061E-5	0.05
18	66542020	G	T	18	68874783	y	y	exonic	CCDC102B	stopgain SNV	CCDC102B:NM_001093729:exon7:c.G1051T:p.E351X;CCDC102B:NM_024781:exon5:c.G1051T:p.E351X;	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000319445:exon5:c.G1051T:p.E351X;ENSG00000150636:ENST00000584156:exon4:c.G1051T:p.E351X;ENSG00000150636:ENST00000360242:exon5:c.G1051T:p.E351X;ENSG00000150636:ENST00000358653:exon6:c.G1051T:p.E351X;	5.9742185548479E-4	0.056
18	66542021	A	C	18	68874784	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.A1052C:p.E351A;CCDC102B:NM_024781:exon5:c.A1052C:p.E351A;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.A1052C:p.E351A;ENSG00000150636:ENST00000584156:exon4:c.A1052C:p.E351A;ENSG00000150636:ENST00000360242:exon5:c.A1052C:p.E351A;ENSG00000150636:ENST00000358653:exon6:c.A1052C:p.E351A;	0.0225275144520449	0.408
18	66542021	A	G	18	68874784	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.A1052G:p.E351G;CCDC102B:NM_024781:exon5:c.A1052G:p.E351G;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.A1052G:p.E351G;ENSG00000150636:ENST00000584156:exon4:c.A1052G:p.E351G;ENSG00000150636:ENST00000360242:exon5:c.A1052G:p.E351G;ENSG00000150636:ENST00000358653:exon6:c.A1052G:p.E351G;	0.0889580649172059	0.496
18	66542021	A	T	18	68874784	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.A1052T:p.E351V;CCDC102B:NM_024781:exon5:c.A1052T:p.E351V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.A1052T:p.E351V;ENSG00000150636:ENST00000584156:exon4:c.A1052T:p.E351V;ENSG00000150636:ENST00000360242:exon5:c.A1052T:p.E351V;ENSG00000150636:ENST00000358653:exon6:c.A1052T:p.E351V;	0.0390044457709219	0.446
18	66542022	G	A	18	68874785	y	y	exonic	CCDC102B	synonymous SNV	CCDC102B:NM_001093729:exon7:c.G1053A:p.E351E;CCDC102B:NM_024781:exon5:c.G1053A:p.E351E;	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.G1053A:p.E351E;ENSG00000150636:ENST00000584156:exon4:c.G1053A:p.E351E;ENSG00000150636:ENST00000360242:exon5:c.G1053A:p.E351E;ENSG00000150636:ENST00000358653:exon6:c.G1053A:p.E351E;	0.783979610928602	0.642
18	66542022	G	C	18	68874785	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.G1053C:p.E351D;CCDC102B:NM_024781:exon5:c.G1053C:p.E351D;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.G1053C:p.E351D;ENSG00000150636:ENST00000584156:exon4:c.G1053C:p.E351D;ENSG00000150636:ENST00000360242:exon5:c.G1053C:p.E351D;ENSG00000150636:ENST00000358653:exon6:c.G1053C:p.E351D;	0.966084408722513	0.6
18	66542022	G	T	18	68874785	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon7:c.G1053T:p.E351D;CCDC102B:NM_024781:exon5:c.G1053T:p.E351D;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon5:c.G1053T:p.E351D;ENSG00000150636:ENST00000584156:exon4:c.G1053T:p.E351D;ENSG00000150636:ENST00000360242:exon5:c.G1053T:p.E351D;ENSG00000150636:ENST00000358653:exon6:c.G1053T:p.E351D;	0.994921935280807	0.71
18	66542023	G	A	18	68874786	y	y	splicing	CCDC102B(NM_001093729:exon7:c.1053+1G>A;NM_024781:exon5:c.1053+1G>A)	.	.	splicing	ENSG00000150636(ENST00000319445:exon5:c.1053+1G>A;ENST00000358653:exon6:c.1053+1G>A;ENST00000360242:exon5:c.1053+1G>A;ENST00000584156:exon4:c.1053+1G>A)	.	.	0.999977614472875	0.744
18	66542023	G	C	18	68874786	y	y	splicing	CCDC102B(NM_001093729:exon7:c.1053+1G>C;NM_024781:exon5:c.1053+1G>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon5:c.1053+1G>C;ENST00000358653:exon6:c.1053+1G>C;ENST00000360242:exon5:c.1053+1G>C;ENST00000584156:exon4:c.1053+1G>C)	.	.	0.999982312740861	0.756
18	66542023	G	T	18	68874786	y	y	splicing	CCDC102B(NM_001093729:exon7:c.1053+1G>T;NM_024781:exon5:c.1053+1G>T)	.	.	splicing	ENSG00000150636(ENST00000319445:exon5:c.1053+1G>T;ENST00000358653:exon6:c.1053+1G>T;ENST00000360242:exon5:c.1053+1G>T;ENST00000584156:exon4:c.1053+1G>T)	.	.	0.999982312740861	0.752
18	66542024	T	A	18	68874787	y	y	splicing	CCDC102B(NM_001093729:exon7:c.1053+2T>A;NM_024781:exon5:c.1053+2T>A)	.	.	splicing	ENSG00000150636(ENST00000319445:exon5:c.1053+2T>A;ENST00000358653:exon6:c.1053+2T>A;ENST00000360242:exon5:c.1053+2T>A;ENST00000584156:exon4:c.1053+2T>A)	.	.	0.999962995320397	0.742
18	66542024	T	C	18	68874787	y	y	splicing	CCDC102B(NM_001093729:exon7:c.1053+2T>C;NM_024781:exon5:c.1053+2T>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon5:c.1053+2T>C;ENST00000358653:exon6:c.1053+2T>C;ENST00000360242:exon5:c.1053+2T>C;ENST00000584156:exon4:c.1053+2T>C)	.	.	0.946693251347198	0.526
18	66542024	T	G	18	68874787	y	y	splicing	CCDC102B(NM_001093729:exon7:c.1053+2T>G;NM_024781:exon5:c.1053+2T>G)	.	.	splicing	ENSG00000150636(ENST00000319445:exon5:c.1053+2T>G;ENST00000358653:exon6:c.1053+2T>G;ENST00000360242:exon5:c.1053+2T>G;ENST00000584156:exon4:c.1053+2T>G)	.	.	0.999962995320397	0.718
18	66542025	A	C	18	68874788	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.994095481634147	0.654
18	66542025	A	G	18	68874788	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0896649441068294	0.28
18	66542025	A	T	18	68874788	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.993258525968547	0.662
18	66542026	A	C	18	68874789	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.171719683689162	0.412
18	66542026	A	G	18	68874789	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.167710279500225	0.444
18	66542026	A	T	18	68874789	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.229436275428723	0.466
18	66542027	G	A	18	68874790	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.851525804462137	0.434
18	66542027	G	C	18	68874790	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.872288384309264	0.456
18	66542027	G	T	18	68874790	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.738099319610176	0.394
18	66542028	A	C	18	68874791	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.8235297012907E-5	0.006
18	66542028	A	G	18	68874791	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.91872757618143E-5	0.0
18	66542028	A	T	18	68874791	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.92606219201965E-5	0.008
18	66542029	C	A	18	68874792	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.14131246368229E-5	0.0
18	66542029	C	G	18	68874792	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.98339386687827E-5	0.0
18	66542029	C	T	18	68874792	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.20077586721042E-5	0.0
18	66542030	A	C	18	68874793	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.47348756796826E-5	0.0
18	66542030	A	G	18	68874793	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.8892041298197E-5	0.0
18	66542030	A	T	18	68874793	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.69673633934422E-5	0.0
18	66564444	T	A	18	68897207	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0126443801866448	0.33
18	66564444	T	C	18	68897207	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.63433446055304E-4	0.072
18	66564444	T	G	18	68897207	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0338629864454291	0.334
18	66564445	T	A	18	68897208	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.911957038561478	0.618
18	66564445	T	C	18	68897208	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00585934889322211	0.202
18	66564445	T	G	18	68897208	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.554028039643029	0.57
18	66564446	C	A	18	68897209	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.69129049845497E-5	0.02
18	66564446	C	G	18	68897209	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.27642261752477E-4	0.008
18	66564446	C	T	18	68897209	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.52515013039301E-5	0.0
18	66564447	T	A	18	68897210	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999910369634409	0.976
18	66564447	T	C	18	68897210	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00107798917803673	0.1
18	66564447	T	G	18	68897210	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0730116430988002	0.334
18	66564448	G	A	18	68897211	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.32110348744572E-4	0.138
18	66564448	G	C	18	68897211	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.02710654681616E-5	0.078
18	66564448	G	T	18	68897211	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.42982077390183E-5	0.086
18	66564449	T	A	18	68897212	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.989394885633858	0.886
18	66564449	T	C	18	68897212	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.99337629246806E-5	0.002
18	66564449	T	G	18	68897212	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00288515613542604	0.092
18	66564450	G	A	18	68897213	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.26390614554381E-5	0.012
18	66564450	G	C	18	68897213	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.26506841433953E-5	0.008
18	66564450	G	T	18	68897213	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.52515013039301E-5	0.002
18	66564451	T	A	18	68897214	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.998242861071038	0.902
18	66564451	T	C	18	68897214	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00290701240606019	0.154
18	66564451	T	G	18	68897214	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.468668129469872	0.462
18	66564452	G	A	18	68897215	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.8453934559658E-5	0.008
18	66564452	G	C	18	68897215	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	5.72253337418315E-6	0.0
18	66564452	G	T	18	68897215	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.78959612380083E-6	0.0
18	66564453	T	A	18	68897216	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0199572155322674	0.334
18	66564453	T	C	18	68897216	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.17482393497336E-4	0.07
18	66564453	T	G	18	68897216	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.997936348337147	0.626
18	66564454	A	C	18	68897217	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1054-2A>C;NM_024781:exon6:c.1054-2A>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1054-2A>C;ENST00000358653:exon7:c.1054-2A>C;ENST00000360242:exon6:c.1054-2A>C;ENST00000584156:exon5:c.1054-2A>C)	.	.	0.999988247793601	0.94
18	66564454	A	G	18	68897217	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1054-2A>G;NM_024781:exon6:c.1054-2A>G)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1054-2A>G;ENST00000358653:exon7:c.1054-2A>G;ENST00000360242:exon6:c.1054-2A>G;ENST00000584156:exon5:c.1054-2A>G)	.	.	0.999988247793601	0.94
18	66564454	A	T	18	68897217	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1054-2A>T;NM_024781:exon6:c.1054-2A>T)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1054-2A>T;ENST00000358653:exon7:c.1054-2A>T;ENST00000360242:exon6:c.1054-2A>T;ENST00000584156:exon5:c.1054-2A>T)	.	.	0.999988247793601	0.94
18	66564455	G	A	18	68897218	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1054-1G>A;NM_024781:exon6:c.1054-1G>A)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1054-1G>A;ENST00000358653:exon7:c.1054-1G>A;ENST00000360242:exon6:c.1054-1G>A;ENST00000584156:exon5:c.1054-1G>A)	.	.	0.999986675681007	0.946
18	66564455	G	C	18	68897218	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1054-1G>C;NM_024781:exon6:c.1054-1G>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1054-1G>C;ENST00000358653:exon7:c.1054-1G>C;ENST00000360242:exon6:c.1054-1G>C;ENST00000584156:exon5:c.1054-1G>C)	.	.	0.999986675681007	0.946
18	66564455	G	T	18	68897218	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1054-1G>T;NM_024781:exon6:c.1054-1G>T)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1054-1G>T;ENST00000358653:exon7:c.1054-1G>T;ENST00000360242:exon6:c.1054-1G>T;ENST00000584156:exon5:c.1054-1G>T)	.	.	0.999986675681007	0.946
18	66564456	C	A	18	68897219	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.C1054A:p.L352I;CCDC102B:NM_024781:exon6:c.C1054A:p.L352I;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.C1054A:p.L352I;ENSG00000150636:ENST00000584156:exon5:c.C1054A:p.L352I;ENSG00000150636:ENST00000360242:exon6:c.C1054A:p.L352I;ENSG00000150636:ENST00000358653:exon7:c.C1054A:p.L352I;	6.64591527418727E-4	0.022
18	66564456	C	G	18	68897219	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.C1054G:p.L352V;CCDC102B:NM_024781:exon6:c.C1054G:p.L352V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.C1054G:p.L352V;ENSG00000150636:ENST00000584156:exon5:c.C1054G:p.L352V;ENSG00000150636:ENST00000360242:exon6:c.C1054G:p.L352V;ENSG00000150636:ENST00000358653:exon7:c.C1054G:p.L352V;	9.88877203282697E-4	0.132
18	66564456	C	T	18	68897219	y	y	exonic	CCDC102B	synonymous SNV	CCDC102B:NM_001093729:exon8:c.C1054T:p.L352L;CCDC102B:NM_024781:exon6:c.C1054T:p.L352L;	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.C1054T:p.L352L;ENSG00000150636:ENST00000584156:exon5:c.C1054T:p.L352L;ENSG00000150636:ENST00000360242:exon6:c.C1054T:p.L352L;ENSG00000150636:ENST00000358653:exon7:c.C1054T:p.L352L;	0.0191984322392886	0.322
18	66564457	T	A	18	68897220	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.T1055A:p.L352Q;CCDC102B:NM_024781:exon6:c.T1055A:p.L352Q;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.T1055A:p.L352Q;ENSG00000150636:ENST00000584156:exon5:c.T1055A:p.L352Q;ENSG00000150636:ENST00000360242:exon6:c.T1055A:p.L352Q;ENSG00000150636:ENST00000358653:exon7:c.T1055A:p.L352Q;	0.0869374205462948	0.154
18	66564457	T	C	18	68897220	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.T1055C:p.L352P;CCDC102B:NM_024781:exon6:c.T1055C:p.L352P;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.T1055C:p.L352P;ENSG00000150636:ENST00000584156:exon5:c.T1055C:p.L352P;ENSG00000150636:ENST00000360242:exon6:c.T1055C:p.L352P;ENSG00000150636:ENST00000358653:exon7:c.T1055C:p.L352P;	0.0542666169771092	0.114
18	66564457	T	G	18	68897220	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.T1055G:p.L352R;CCDC102B:NM_024781:exon6:c.T1055G:p.L352R;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.T1055G:p.L352R;ENSG00000150636:ENST00000584156:exon5:c.T1055G:p.L352R;ENSG00000150636:ENST00000360242:exon6:c.T1055G:p.L352R;ENSG00000150636:ENST00000358653:exon7:c.T1055G:p.L352R;	0.063930292392896	0.124
18	66564663	C	A	18	68897426	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.C1261A:p.Q421K;CCDC102B:NM_024781:exon6:c.C1261A:p.Q421K;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.C1261A:p.Q421K;ENSG00000150636:ENST00000584156:exon5:c.C1261A:p.Q421K;ENSG00000150636:ENST00000360242:exon6:c.C1261A:p.Q421K;ENSG00000150636:ENST00000358653:exon7:c.C1261A:p.Q421K;	9.42199199808149E-5	0.102
18	66564663	C	G	18	68897426	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.C1261G:p.Q421E;CCDC102B:NM_024781:exon6:c.C1261G:p.Q421E;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.C1261G:p.Q421E;ENSG00000150636:ENST00000584156:exon5:c.C1261G:p.Q421E;ENSG00000150636:ENST00000360242:exon6:c.C1261G:p.Q421E;ENSG00000150636:ENST00000358653:exon7:c.C1261G:p.Q421E;	9.35432983213118E-5	0.048
18	66564663	C	T	18	68897426	y	y	exonic	CCDC102B	stopgain SNV	CCDC102B:NM_001093729:exon8:c.C1261T:p.Q421X;CCDC102B:NM_024781:exon6:c.C1261T:p.Q421X;	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000319445:exon6:c.C1261T:p.Q421X;ENSG00000150636:ENST00000584156:exon5:c.C1261T:p.Q421X;ENSG00000150636:ENST00000360242:exon6:c.C1261T:p.Q421X;ENSG00000150636:ENST00000358653:exon7:c.C1261T:p.Q421X;	0.0123538394619939	0.346
18	66564664	A	C	18	68897427	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.A1262C:p.Q421P;CCDC102B:NM_024781:exon6:c.A1262C:p.Q421P;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.A1262C:p.Q421P;ENSG00000150636:ENST00000584156:exon5:c.A1262C:p.Q421P;ENSG00000150636:ENST00000360242:exon6:c.A1262C:p.Q421P;ENSG00000150636:ENST00000358653:exon7:c.A1262C:p.Q421P;	0.537686293415141	0.538
18	66564664	A	G	18	68897427	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.A1262G:p.Q421R;CCDC102B:NM_024781:exon6:c.A1262G:p.Q421R;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.A1262G:p.Q421R;ENSG00000150636:ENST00000584156:exon5:c.A1262G:p.Q421R;ENSG00000150636:ENST00000360242:exon6:c.A1262G:p.Q421R;ENSG00000150636:ENST00000358653:exon7:c.A1262G:p.Q421R;	0.568213177015807	0.472
18	66564664	A	T	18	68897427	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.A1262T:p.Q421L;CCDC102B:NM_024781:exon6:c.A1262T:p.Q421L;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.A1262T:p.Q421L;ENSG00000150636:ENST00000584156:exon5:c.A1262T:p.Q421L;ENSG00000150636:ENST00000360242:exon6:c.A1262T:p.Q421L;ENSG00000150636:ENST00000358653:exon7:c.A1262T:p.Q421L;	0.650739974709516	0.566
18	66564665	G	A	18	68897428	y	y	exonic	CCDC102B	synonymous SNV	CCDC102B:NM_001093729:exon8:c.G1263A:p.Q421Q;CCDC102B:NM_024781:exon6:c.G1263A:p.Q421Q;	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.G1263A:p.Q421Q;ENSG00000150636:ENST00000584156:exon5:c.G1263A:p.Q421Q;ENSG00000150636:ENST00000360242:exon6:c.G1263A:p.Q421Q;ENSG00000150636:ENST00000358653:exon7:c.G1263A:p.Q421Q;	0.997672015874527	0.988
18	66564665	G	C	18	68897428	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.G1263C:p.Q421H;CCDC102B:NM_024781:exon6:c.G1263C:p.Q421H;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.G1263C:p.Q421H;ENSG00000150636:ENST00000584156:exon5:c.G1263C:p.Q421H;ENSG00000150636:ENST00000360242:exon6:c.G1263C:p.Q421H;ENSG00000150636:ENST00000358653:exon7:c.G1263C:p.Q421H;	0.999965615770884	0.948
18	66564665	G	T	18	68897428	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon8:c.G1263T:p.Q421H;CCDC102B:NM_024781:exon6:c.G1263T:p.Q421H;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon6:c.G1263T:p.Q421H;ENSG00000150636:ENST00000584156:exon5:c.G1263T:p.Q421H;ENSG00000150636:ENST00000360242:exon6:c.G1263T:p.Q421H;ENSG00000150636:ENST00000358653:exon7:c.G1263T:p.Q421H;	0.999605016593253	0.954
18	66564666	G	A	18	68897429	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1263+1G>A;NM_024781:exon6:c.1263+1G>A)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1263+1G>A;ENST00000358653:exon7:c.1263+1G>A;ENST00000360242:exon6:c.1263+1G>A;ENST00000584156:exon5:c.1263+1G>A)	.	.	0.999956786857988	0.938
18	66564666	G	C	18	68897429	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1263+1G>C;NM_024781:exon6:c.1263+1G>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1263+1G>C;ENST00000358653:exon7:c.1263+1G>C;ENST00000360242:exon6:c.1263+1G>C;ENST00000584156:exon5:c.1263+1G>C)	.	.	0.999956786857988	0.936
18	66564666	G	T	18	68897429	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1263+1G>T;NM_024781:exon6:c.1263+1G>T)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1263+1G>T;ENST00000358653:exon7:c.1263+1G>T;ENST00000360242:exon6:c.1263+1G>T;ENST00000584156:exon5:c.1263+1G>T)	.	.	0.999956786857988	0.938
18	66564667	T	A	18	68897430	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1263+2T>A;NM_024781:exon6:c.1263+2T>A)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1263+2T>A;ENST00000358653:exon7:c.1263+2T>A;ENST00000360242:exon6:c.1263+2T>A;ENST00000584156:exon5:c.1263+2T>A)	.	.	0.999964896440643	0.932
18	66564667	T	C	18	68897430	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1263+2T>C;NM_024781:exon6:c.1263+2T>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1263+2T>C;ENST00000358653:exon7:c.1263+2T>C;ENST00000360242:exon6:c.1263+2T>C;ENST00000584156:exon5:c.1263+2T>C)	.	.	0.965226450640583	0.57
18	66564667	T	G	18	68897430	y	y	splicing	CCDC102B(NM_001093729:exon8:c.1263+2T>G;NM_024781:exon6:c.1263+2T>G)	.	.	splicing	ENSG00000150636(ENST00000319445:exon6:c.1263+2T>G;ENST00000358653:exon7:c.1263+2T>G;ENST00000360242:exon6:c.1263+2T>G;ENST00000584156:exon5:c.1263+2T>G)	.	.	0.999951957019574	0.874
18	66564668	A	C	18	68897431	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.998800626458826	0.778
18	66564668	A	G	18	68897431	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.935657096761434	0.64
18	66564668	A	T	18	68897431	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.998124091791753	0.774
18	66564669	T	A	18	68897432	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.47038537649534E-5	0.016
18	66564669	T	C	18	68897432	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.47744362397867E-6	0.0
18	66564669	T	G	18	68897432	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.71491275653921E-5	0.002
18	66564670	G	A	18	68897433	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.43553534087817	0.644
18	66564670	G	C	18	68897433	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.512819862718093	0.69
18	66564670	G	T	18	68897433	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.654965336367058	0.648
18	66564671	G	A	18	68897434	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	9.64958275699476E-5	0.004
18	66564671	G	C	18	68897434	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.32790843388561E-4	0.002
18	66564671	G	T	18	68897434	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.29203489347423E-5	0.002
18	66564672	G	A	18	68897435	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.87680416612575E-5	0.0
18	66564672	G	C	18	68897435	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.81159136363845E-5	0.0
18	66564672	G	T	18	68897435	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.25788420748545E-5	0.0
18	66564673	T	A	18	68897436	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.22938780917963E-4	0.0
18	66564673	T	C	18	68897436	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.8626993937757E-5	0.002
18	66564673	T	G	18	68897436	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.76416454979694E-5	0.002
18	66564803	T	A	18	68897566	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.03334260509943E-4	0.0
18	66564803	T	C	18	68897566	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.98539574418579E-5	0.0
18	66564803	T	G	18	68897566	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.98539574418579E-5	0.0
18	66564804	T	A	18	68897567	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.39826558468951E-5	0.008
18	66564804	T	C	18	68897567	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.45170072801036E-5	0.008
18	66564804	T	G	18	68897567	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.45170072801036E-5	0.008
18	66564805	T	A	18	68897568	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.49702646665041E-5	0.004
18	66564805	T	C	18	68897568	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.08802802279601E-5	0.0
18	66564805	T	G	18	68897568	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.08802802279601E-5	0.0
18	66564806	G	A	18	68897569	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.87698428322107E-5	0.004
18	66564806	G	C	18	68897569	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.87698428322107E-5	0.002
18	66564806	G	T	18	68897569	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.87698428322107E-5	0.002
18	66564807	C	A	18	68897570	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.01209109375653E-5	0.004
18	66564807	C	G	18	68897570	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.02784891650442E-5	0.1
18	66564807	C	T	18	68897570	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.01209109375653E-5	0.002
18	66564808	C	A	18	68897571	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.90586714876469E-5	0.0
18	66564808	C	G	18	68897571	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.90586714876469E-5	0.002
18	66564808	C	T	18	68897571	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.9438844412207E-5	0.002
18	66564809	C	A	18	68897572	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.82827935381688E-5	0.002
18	66564809	C	G	18	68897572	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.82827935381688E-5	0.006
18	66564809	C	T	18	68897572	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.82827935381688E-5	0.0
18	66564810	A	C	18	68897573	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.59209916280968E-5	0.024
18	66564810	A	G	18	68897573	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.59209916280968E-5	0.104
18	66564810	A	T	18	68897573	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.68622737106591E-5	0.002
18	66564811	C	A	18	68897574	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.65388135286213E-5	0.0
18	66564811	C	G	18	68897574	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.65388135286213E-5	0.0
18	66564811	C	T	18	68897574	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.86359644168464E-5	0.0
18	66564812	T	A	18	68897575	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.9469183429777E-5	0.0
18	66564812	T	C	18	68897575	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.9469183429777E-5	0.0
18	66564812	T	G	18	68897575	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.9469183429777E-5	0.0
18	66564813	A	C	18	68897576	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon8:c.1264-2A>C)	.	.	4.4865061704333E-5	0.0
18	66564813	A	G	18	68897576	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon8:c.1264-2A>G)	.	.	4.4865061704333E-5	0.0
18	66564813	A	T	18	68897576	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon8:c.1264-2A>T)	.	.	8.15438279315683E-5	0.0
18	66564814	G	A	18	68897577	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon8:c.1264-1G>A)	.	.	5.86590924201456E-5	0.002
18	66564814	G	C	18	68897577	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon8:c.1264-1G>C)	.	.	5.86590924201456E-5	0.014
18	66564814	G	T	18	68897577	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000150636(ENST00000358653:exon8:c.1264-1G>T)	.	.	5.86590924201456E-5	0.002
18	66564815	G	A	18	68897578	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon8:c.G1264A:p.D422N;	1.32022946453205E-4	0.0
18	66564815	G	C	18	68897578	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon8:c.G1264C:p.D422H;	1.97897577769029E-4	0.0
18	66564815	G	T	18	68897578	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon8:c.G1264T:p.D422Y;	1.97897577769029E-4	0.0
18	66564816	A	C	18	68897579	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon8:c.A1265C:p.D422A;	8.25367971132387E-5	0.008
18	66564816	A	G	18	68897579	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon8:c.A1265G:p.D422G;	5.80618050512278E-5	0.0
18	66564816	A	T	18	68897579	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000358653:exon8:c.A1265T:p.D422V;	8.25367971132387E-5	0.008
18	66567473	G	A	18	68900236	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon2:c.C55T:p.L19F;	7.77576363752898E-5	0.0
18	66567473	G	C	18	68900236	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon2:c.C55G:p.L19V;	3.93972165730067E-5	0.0
18	66567473	G	T	18	68900236	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon2:c.C55A:p.L19I;	1.09404615887614E-4	0.012
18	66567474	T	A	18	68900237	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon2:c.A54T:p.R18S;	1.02249482416242E-4	0.002
18	66567474	T	C	18	68900237	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	synonymous SNV	ENSG00000264472:ENST00000579678:exon2:c.A54G:p.R18R;	1.35771348238928E-4	0.008
18	66567474	T	G	18	68900237	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon2:c.A54C:p.R18S;	1.90339886459448E-4	0.0
18	66567475	C	A	18	68900238	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon3:c.54-1G>T)	.	.	1.41231753311375E-4	0.002
18	66567475	C	G	18	68900238	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon3:c.54-1G>C)	.	.	1.44890220172881E-4	0.008
18	66567475	C	T	18	68900238	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon3:c.54-1G>A)	.	.	1.41231753311375E-4	0.002
18	66567476	T	A	18	68900239	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon3:c.54-2A>T)	.	.	0.00220285109689569	0.1
18	66567476	T	C	18	68900239	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon3:c.54-2A>G)	.	.	0.00133757912346677	0.02
18	66567476	T	G	18	68900239	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon3:c.54-2A>C)	.	.	0.00143393534730329	0.024
18	66567477	G	A	18	68900240	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	9.71088654042677E-5	0.004
18	66567477	G	C	18	68900240	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.03839229791523E-4	0.02
18	66567477	G	T	18	68900240	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	7.44551275265223E-5	0.008
18	66567478	C	A	18	68900241	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	9.97327582115784E-5	0.0
18	66567478	C	G	18	68900241	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	4.80924373634625E-5	0.0
18	66567478	C	T	18	68900241	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	9.97327582115784E-5	0.0
18	66567479	A	C	18	68900242	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.51784750636518E-4	0.0
18	66567479	A	G	18	68900242	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.51784750636518E-4	0.0
18	66567479	A	T	18	68900242	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.47952223173846E-4	0.0
18	66567480	T	A	18	68900243	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.47952223173846E-4	0.0
18	66567480	T	C	18	68900243	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.47952223173846E-4	0.018
18	66567480	T	G	18	68900243	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.47952223173846E-4	0.012
18	66567481	T	A	18	68900244	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	7.05499324916919E-5	0.0
18	66567481	T	C	18	68900244	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	7.75002676380762E-5	0.008
18	66567481	T	G	18	68900244	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	7.75002676380762E-5	0.012
18	66567482	A	C	18	68900245	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	5.57145641728679E-5	0.026
18	66567482	A	G	18	68900245	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	5.57145641728679E-5	0.026
18	66567482	A	T	18	68900245	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	5.57145641728679E-5	0.044
18	66567483	T	A	18	68900246	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	0.0531786712450523	0.292
18	66567483	T	C	18	68900246	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	0.0634575034569044	0.292
18	66567483	T	G	18	68900246	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	0.0634575034569044	0.292
18	66567484	A	C	18	68900247	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	0.0531786712450523	0.294
18	66567484	A	G	18	68900247	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	0.0531786712450523	0.292
18	66567484	A	T	18	68900247	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	0.0531786712450523	0.3
18	66567485	A	C	18	68900248	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	3.80073388838982E-4	0.168
18	66567485	A	G	18	68900248	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	3.80073388838982E-4	0.168
18	66567485	A	T	18	68900248	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	6.26163615243129E-4	0.188
18	66567486	A	C	18	68900249	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	2.3779450157057E-4	0.152
18	66567486	A	G	18	68900249	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	2.3779450157057E-4	0.152
18	66567486	A	T	18	68900249	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	3.08796813064483E-4	0.162
18	66569417	C	A	18	68902180	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	2.45277156108894E-5	0.0
18	66569417	C	G	18	68902180	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	2.45277156108894E-5	0.0
18	66569417	C	T	18	68902180	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	2.45277156108894E-5	0.0
18	66569418	T	A	18	68902181	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.58927937202005E-5	0.004
18	66569418	T	C	18	68902181	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.58927937202005E-5	0.004
18	66569418	T	G	18	68902181	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.58927937202005E-5	0.004
18	66569419	T	A	18	68902182	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.37501361942679E-5	0.002
18	66569419	T	C	18	68902182	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.37501361942679E-5	0.004
18	66569419	T	G	18	68902182	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	1.37501361942679E-5	0.002
18	66569420	T	A	18	68902183	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	3.07620641825897E-5	0.0
18	66569420	T	C	18	68902183	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	3.07620641825897E-5	0.004
18	66569420	T	G	18	68902183	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	3.07620641825897E-5	0.002
18	66569421	T	A	18	68902184	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	2.24448153445642E-4	0.042
18	66569421	T	C	18	68902184	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	2.24448153445642E-4	0.04
18	66569421	T	G	18	68902184	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	2.24448153445642E-4	0.04
18	66569422	C	A	18	68902185	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	6.09337574150394E-6	0.004
18	66569422	C	G	18	68902185	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	6.09337574150394E-6	0.0
18	66569422	C	T	18	68902185	n	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636;ENSG00000264472	.	.	6.09337574150394E-6	0.016
18	66569423	A	C	18	68902186	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon2:c.53+2T>G)	.	.	1.39192150166447E-5	0.002
18	66569423	A	G	18	68902186	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon2:c.53+2T>C)	.	.	1.39192150166447E-5	0.002
18	66569423	A	T	18	68902186	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon2:c.53+2T>A)	.	.	1.39192150166447E-5	0.004
18	66569424	C	A	18	68902187	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon2:c.53+1G>T)	.	.	1.99153316237132E-5	0.004
18	66569424	C	G	18	68902187	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon2:c.53+1G>C)	.	.	1.89861551796331E-5	0.002
18	66569424	C	T	18	68902187	n	y	intronic	CCDC102B	.	.	splicing	ENSG00000264472(ENST00000579678:exon2:c.53+1G>A)	.	.	1.99153316237132E-5	0.002
18	66569425	C	A	18	68902188	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon1:c.G53T:p.R18I;	9.41215694109E-6	0.0
18	66569425	C	G	18	68902188	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon1:c.G53C:p.R18T;	6.09337574150394E-6	0.002
18	66569425	C	T	18	68902188	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon1:c.G53A:p.R18K;	2.41069364790736E-5	0.006
18	66569426	T	A	18	68902189	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	stopgain SNV	ENSG00000264472:ENST00000579678:exon1:c.A52T:p.R18X;	2.23102220376242E-4	0.012
18	66569426	T	C	18	68902189	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon1:c.A52G:p.R18G;	8.90177193295887E-6	0.002
18	66569426	T	G	18	68902189	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	synonymous SNV	ENSG00000264472:ENST00000579678:exon1:c.A52C:p.R18R;	1.37501361942679E-5	0.002
18	66569427	T	A	18	68902190	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon1:c.A51T:p.K17N;	2.45277156108894E-5	0.002
18	66569427	T	C	18	68902190	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	synonymous SNV	ENSG00000264472:ENST00000579678:exon1:c.A51G:p.K17K;	3.78864525412067E-5	0.002
18	66569427	T	G	18	68902190	n	y	intronic	CCDC102B	.	.	exonic	ENSG00000264472	nonsynonymous SNV	ENSG00000264472:ENST00000579678:exon1:c.A51C:p.K17N;	2.45277156108894E-5	0.002
18	66678159	T	A	18	69010922	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0071906490506444	0.27
18	66678159	T	C	18	69010922	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.84473670231919E-4	0.036
18	66678159	T	G	18	69010922	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00719339952484799	0.272
18	66678160	T	A	18	69010923	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.312079712420103	0.46
18	66678160	T	C	18	69010923	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0109000589251441	0.204
18	66678160	T	G	18	69010923	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0107496808989977	0.304
18	66678161	C	A	18	69010924	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00116005750881391	0.096
18	66678161	C	G	18	69010924	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00122291353163548	0.058
18	66678161	C	T	18	69010924	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.65353474286248E-4	0.002
18	66678162	C	A	18	69010925	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	9.12403262326978E-4	0.1
18	66678162	C	G	18	69010925	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00144072750674223	0.086
18	66678162	C	T	18	69010925	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	3.03864111040685E-5	0.0
18	66678163	T	A	18	69010926	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.90786327291596E-5	0.108
18	66678163	T	C	18	69010926	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.02127988020066E-5	0.0
18	66678163	T	G	18	69010926	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.35796415397653E-4	0.038
18	66678164	T	A	18	69010927	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.018726977462131	0.18
18	66678164	T	C	18	69010927	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.72001200396953E-4	0.056
18	66678164	T	G	18	69010927	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00725270065274456	0.158
18	66678165	T	A	18	69010928	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.99996818757748	0.962
18	66678165	T	C	18	69010928	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00125761074777872	0.08
18	66678165	T	G	18	69010928	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0100896612413437	0.248
18	66678166	G	A	18	69010929	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.6356706289491E-5	0.006
18	66678166	G	C	18	69010929	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.96098497367456E-5	0.028
18	66678166	G	T	18	69010929	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.20205207055138E-5	0.038
18	66678167	A	C	18	69010930	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	8.00769594445585E-5	0.01
18	66678167	A	G	18	69010930	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.59353913151737E-4	0.018
18	66678167	A	T	18	69010930	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.03679668132064E-4	0.018
18	66678168	A	C	18	69010931	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.5487340980383E-4	0.128
18	66678168	A	G	18	69010931	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.602463222911752	0.472
18	66678168	A	T	18	69010931	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.4432343294548E-4	0.0
18	66678169	A	C	18	69010932	y	y	splicing	CCDC102B(NM_001093729:exon9:c.1264-2A>C;NM_024781:exon7:c.1264-2A>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon7:c.1264-2A>C;ENST00000360242:exon7:c.1264-2A>C;ENST00000584156:exon6:c.1264-2A>C)	.	.	0.999966514958823	0.962
18	66678169	A	G	18	69010932	y	y	splicing	CCDC102B(NM_001093729:exon9:c.1264-2A>G;NM_024781:exon7:c.1264-2A>G)	.	.	splicing	ENSG00000150636(ENST00000319445:exon7:c.1264-2A>G;ENST00000360242:exon7:c.1264-2A>G;ENST00000584156:exon6:c.1264-2A>G)	.	.	0.999966514958823	0.962
18	66678169	A	T	18	69010932	y	y	splicing	CCDC102B(NM_001093729:exon9:c.1264-2A>T;NM_024781:exon7:c.1264-2A>T)	.	.	splicing	ENSG00000150636(ENST00000319445:exon7:c.1264-2A>T;ENST00000360242:exon7:c.1264-2A>T;ENST00000584156:exon6:c.1264-2A>T)	.	.	0.999966203349492	0.962
18	66678170	G	A	18	69010933	y	y	splicing	CCDC102B(NM_001093729:exon9:c.1264-1G>A;NM_024781:exon7:c.1264-1G>A)	.	.	splicing	ENSG00000150636(ENST00000319445:exon7:c.1264-1G>A;ENST00000360242:exon7:c.1264-1G>A;ENST00000584156:exon6:c.1264-1G>A)	.	.	0.999915710762489	0.96
18	66678170	G	C	18	69010933	y	y	splicing	CCDC102B(NM_001093729:exon9:c.1264-1G>C;NM_024781:exon7:c.1264-1G>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon7:c.1264-1G>C;ENST00000360242:exon7:c.1264-1G>C;ENST00000584156:exon6:c.1264-1G>C)	.	.	0.999916487880886	0.96
18	66678170	G	T	18	69010933	y	y	splicing	CCDC102B(NM_001093729:exon9:c.1264-1G>T;NM_024781:exon7:c.1264-1G>T)	.	.	splicing	ENSG00000150636(ENST00000319445:exon7:c.1264-1G>T;ENST00000360242:exon7:c.1264-1G>T;ENST00000584156:exon6:c.1264-1G>T)	.	.	0.999915710762489	0.96
18	66678171	G	A	18	69010934	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.G1264A:p.E422K;CCDC102B:NM_024781:exon7:c.G1264A:p.E422K;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.G1264A:p.E422K;ENSG00000150636:ENST00000584156:exon6:c.G1264A:p.E422K;ENSG00000150636:ENST00000360242:exon7:c.G1264A:p.E422K;	0.947143953179105	0.686
18	66678171	G	C	18	69010934	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.G1264C:p.E422Q;CCDC102B:NM_024781:exon7:c.G1264C:p.E422Q;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.G1264C:p.E422Q;ENSG00000150636:ENST00000584156:exon6:c.G1264C:p.E422Q;ENSG00000150636:ENST00000360242:exon7:c.G1264C:p.E422Q;	0.87041426249102	0.59
18	66678171	G	T	18	69010934	y	y	exonic	CCDC102B	stopgain SNV	CCDC102B:NM_001093729:exon9:c.G1264T:p.E422X;CCDC102B:NM_024781:exon7:c.G1264T:p.E422X;	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000319445:exon7:c.G1264T:p.E422X;ENSG00000150636:ENST00000584156:exon6:c.G1264T:p.E422X;ENSG00000150636:ENST00000360242:exon7:c.G1264T:p.E422X;	0.999954644138672	0.996
18	66678172	A	C	18	69010935	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.A1265C:p.E422A;CCDC102B:NM_024781:exon7:c.A1265C:p.E422A;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.A1265C:p.E422A;ENSG00000150636:ENST00000584156:exon6:c.A1265C:p.E422A;ENSG00000150636:ENST00000360242:exon7:c.A1265C:p.E422A;	3.27332701055754E-4	0.016
18	66678172	A	G	18	69010935	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.A1265G:p.E422G;CCDC102B:NM_024781:exon7:c.A1265G:p.E422G;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.A1265G:p.E422G;ENSG00000150636:ENST00000584156:exon6:c.A1265G:p.E422G;ENSG00000150636:ENST00000360242:exon7:c.A1265G:p.E422G;	4.62495539814683E-4	0.014
18	66678172	A	T	18	69010935	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.A1265T:p.E422V;CCDC102B:NM_024781:exon7:c.A1265T:p.E422V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.A1265T:p.E422V;ENSG00000150636:ENST00000584156:exon6:c.A1265T:p.E422V;ENSG00000150636:ENST00000360242:exon7:c.A1265T:p.E422V;	2.52789201501648E-4	0.006
18	66678339	G	A	18	69011102	y	n	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.G1432A:p.E478K;CCDC102B:NM_024781:exon7:c.G1432A:p.E478K;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.G1432A:p.E478K;ENSG00000150636:ENST00000584156:exon6:c.G1432A:p.E478K;ENSG00000150636:ENST00000360242:exon7:c.G1432A:p.E478K;	5.70414912842622E-5	0.004
18	66678339	G	C	18	69011102	y	n	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.G1432C:p.E478Q;CCDC102B:NM_024781:exon7:c.G1432C:p.E478Q;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.G1432C:p.E478Q;ENSG00000150636:ENST00000584156:exon6:c.G1432C:p.E478Q;ENSG00000150636:ENST00000360242:exon7:c.G1432C:p.E478Q;	6.58800609919459E-5	0.026
18	66678339	G	T	18	69011102	y	n	exonic	CCDC102B	stopgain SNV	CCDC102B:NM_001093729:exon9:c.G1432T:p.E478X;CCDC102B:NM_024781:exon7:c.G1432T:p.E478X;	exonic	ENSG00000150636	stopgain SNV	ENSG00000150636:ENST00000319445:exon7:c.G1432T:p.E478X;ENSG00000150636:ENST00000584156:exon6:c.G1432T:p.E478X;ENSG00000150636:ENST00000360242:exon7:c.G1432T:p.E478X;	0.00471639648204382	0.126
18	66678340	A	C	18	69011103	y	n	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.A1433C:p.E478A;CCDC102B:NM_024781:exon7:c.A1433C:p.E478A;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.A1433C:p.E478A;ENSG00000150636:ENST00000584156:exon6:c.A1433C:p.E478A;ENSG00000150636:ENST00000360242:exon7:c.A1433C:p.E478A;	0.990296518272957	0.896
18	66678340	A	G	18	69011103	y	n	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.A1433G:p.E478G;CCDC102B:NM_024781:exon7:c.A1433G:p.E478G;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.A1433G:p.E478G;ENSG00000150636:ENST00000584156:exon6:c.A1433G:p.E478G;ENSG00000150636:ENST00000360242:exon7:c.A1433G:p.E478G;	0.999104117278644	0.942
18	66678340	A	T	18	69011103	y	n	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.A1433T:p.E478V;CCDC102B:NM_024781:exon7:c.A1433T:p.E478V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.A1433T:p.E478V;ENSG00000150636:ENST00000584156:exon6:c.A1433T:p.E478V;ENSG00000150636:ENST00000360242:exon7:c.A1433T:p.E478V;	0.999122606059166	0.964
18	66678341	G	A	18	69011104	y	n	exonic	CCDC102B	synonymous SNV	CCDC102B:NM_001093729:exon9:c.G1434A:p.E478E;CCDC102B:NM_024781:exon7:c.G1434A:p.E478E;	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.G1434A:p.E478E;ENSG00000150636:ENST00000584156:exon6:c.G1434A:p.E478E;ENSG00000150636:ENST00000360242:exon7:c.G1434A:p.E478E;	0.99998449388794	0.998
18	66678341	G	C	18	69011104	y	n	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.G1434C:p.E478D;CCDC102B:NM_024781:exon7:c.G1434C:p.E478D;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.G1434C:p.E478D;ENSG00000150636:ENST00000584156:exon6:c.G1434C:p.E478D;ENSG00000150636:ENST00000360242:exon7:c.G1434C:p.E478D;	0.999992378639432	0.99
18	66678341	G	T	18	69011104	y	n	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon9:c.G1434T:p.E478D;CCDC102B:NM_024781:exon7:c.G1434T:p.E478D;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon7:c.G1434T:p.E478D;ENSG00000150636:ENST00000584156:exon6:c.G1434T:p.E478D;ENSG00000150636:ENST00000360242:exon7:c.G1434T:p.E478D;	0.999985276309882	0.996
18	66678342	G	A	18	69011105	y	n	splicing	CCDC102B(NM_001093729:exon9:c.1434+1G>A;NM_024781:exon7:c.1434+1G>A)	.	.	exonic;splicing	ENSG00000150636;ENSG00000150636(ENST00000319445:exon7:c.1434+1G>A;ENST00000360242:exon7:c.1434+1G>A)	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.G1435A:p.V479I;	0.999878035359236	0.838
18	66678342	G	C	18	69011105	y	n	splicing	CCDC102B(NM_001093729:exon9:c.1434+1G>C;NM_024781:exon7:c.1434+1G>C)	.	.	exonic;splicing	ENSG00000150636;ENSG00000150636(ENST00000319445:exon7:c.1434+1G>C;ENST00000360242:exon7:c.1434+1G>C)	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.G1435C:p.V479L;	0.999853056121511	0.828
18	66678342	G	T	18	69011105	y	n	splicing	CCDC102B(NM_001093729:exon9:c.1434+1G>T;NM_024781:exon7:c.1434+1G>T)	.	.	exonic;splicing	ENSG00000150636;ENSG00000150636(ENST00000319445:exon7:c.1434+1G>T;ENST00000360242:exon7:c.1434+1G>T)	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.G1435T:p.V479L;	0.999879848330056	0.834
18	66678343	T	A	18	69011106	y	n	splicing	CCDC102B(NM_001093729:exon9:c.1434+2T>A;NM_024781:exon7:c.1434+2T>A)	.	.	exonic;splicing	ENSG00000150636;ENSG00000150636(ENST00000319445:exon7:c.1434+2T>A;ENST00000360242:exon7:c.1434+2T>A)	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1436A:p.V479E;	0.999965639045183	0.702
18	66678343	T	C	18	69011106	y	n	splicing	CCDC102B(NM_001093729:exon9:c.1434+2T>C;NM_024781:exon7:c.1434+2T>C)	.	.	exonic;splicing	ENSG00000150636;ENSG00000150636(ENST00000319445:exon7:c.1434+2T>C;ENST00000360242:exon7:c.1434+2T>C)	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1436C:p.V479A;	0.681646478975743	0.478
18	66678343	T	G	18	69011106	y	n	splicing	CCDC102B(NM_001093729:exon9:c.1434+2T>G;NM_024781:exon7:c.1434+2T>G)	.	.	exonic;splicing	ENSG00000150636;ENSG00000150636(ENST00000319445:exon7:c.1434+2T>G;ENST00000360242:exon7:c.1434+2T>G)	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1436G:p.V479G;	0.999956539223435	0.7
18	66678344	A	C	18	69011107	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.A1437C:p.V479V;	0.999886293833718	0.824
18	66678344	A	G	18	69011107	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.A1437G:p.V479V;	0.998888174391787	0.766
18	66678344	A	T	18	69011107	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.A1437T:p.V479V;	0.999927307614305	0.832
18	66678345	C	A	18	69011108	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.C1438A:p.L480I;	2.627875919013E-4	0.07
18	66678345	C	G	18	69011108	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.C1438G:p.L480V;	8.35391232291338E-5	0.04
18	66678345	C	T	18	69011108	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.C1438T:p.L480L;	1.58944485265994E-4	0.052
18	66678346	T	A	18	69011109	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1439A:p.L480Q;	8.44051122587416E-4	0.046
18	66678346	T	C	18	69011109	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1439C:p.L480P;	8.55501251764999E-5	0.006
18	66678346	T	G	18	69011109	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1439G:p.L480R;	4.80158717141579E-4	0.072
18	66678347	A	C	18	69011110	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.A1440C:p.L480L;	1.98396054799762E-4	0.042
18	66678347	A	G	18	69011110	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.A1440G:p.L480L;	1.21428119304793E-4	0.05
18	66678347	A	T	18	69011110	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	synonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.A1440T:p.L480L;	5.26859930610842E-5	0.048
18	66678348	C	A	18	69011111	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.C1441A:p.L481I;	1.53717286515496E-4	0.018
18	66678348	C	G	18	69011111	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.C1441G:p.L481V;	2.48989754426609E-4	0.004
18	66678348	C	T	18	69011111	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.C1441T:p.L481F;	5.74988724029644E-4	0.032
18	66678349	T	A	18	69011112	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1442A:p.L481H;	5.76448559672356E-5	0.002
18	66678349	T	C	18	69011112	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1442C:p.L481P;	2.54967017940242E-5	0.0
18	66678349	T	G	18	69011112	y	n	intronic	CCDC102B	.	.	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000584156:exon6:c.T1442G:p.L481R;	6.05197070363567E-5	0.0
18	66721255	C	A	18	69054018	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.91335465921993E-4	0.04
18	66721255	C	G	18	69054018	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.99949724919617	0.98
18	66721255	C	T	18	69054018	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	4.07562252589476E-5	0.002
18	66721256	T	A	18	69054019	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.401246635076628	0.492
18	66721256	T	C	18	69054019	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00197895758366091	0.07
18	66721256	T	G	18	69054019	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.345096722846684	0.458
18	66721257	T	A	18	69054020	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.60907860387964	0.534
18	66721257	T	C	18	69054020	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0014614174479151	0.044
18	66721257	T	G	18	69054020	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.558182574433095	0.424
18	66721258	C	A	18	69054021	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.978304919826099	0.978
18	66721258	C	G	18	69054021	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.87232487538283E-4	0.04
18	66721258	C	T	18	69054021	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.62338601232746E-5	0.02
18	66721259	G	A	18	69054022	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.66788996267205E-5	0.01
18	66721259	G	C	18	69054022	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	7.81496769892781E-6	0.006
18	66721259	G	T	18	69054022	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	6.10469533991097E-6	0.002
18	66721260	C	A	18	69054023	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	1.58883344998702E-4	0.014
18	66721260	C	G	18	69054023	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	9.53320671164695E-5	0.006
18	66721260	C	T	18	69054023	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	2.10939807339296E-5	0.0
18	66721261	T	A	18	69054024	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.815667219101481	0.53
18	66721261	T	C	18	69054024	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00148858019632853	0.07
18	66721261	T	G	18	69054024	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.873146003069122	0.52
18	66721262	T	A	18	69054025	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.952371917178672	0.592
18	66721262	T	C	18	69054025	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.0121062543444641	0.142
18	66721262	T	G	18	69054025	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.95021360367373	0.582
18	66721263	T	A	18	69054026	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00197468295777711	0.028
18	66721263	T	C	18	69054026	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00115512343813967	0.034
18	66721263	T	G	18	69054026	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00131302420915609	0.03
18	66721264	C	A	18	69054027	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.63018536844024	0.582
18	66721264	C	G	18	69054027	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.999758588073903	0.966
18	66721264	C	T	18	69054027	y	y	intronic	CCDC102B	.	.	intronic	ENSG00000150636	.	.	0.00156362727482055	0.022
18	66721265	A	C	18	69054028	y	y	splicing	CCDC102B(NM_001093729:exon10:c.1435-2A>C;NM_024781:exon8:c.1435-2A>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon8:c.1435-2A>C;ENST00000360242:exon8:c.1435-2A>C)	.	.	0.999985730311967	0.882
18	66721265	A	G	18	69054028	y	y	splicing	CCDC102B(NM_001093729:exon10:c.1435-2A>G;NM_024781:exon8:c.1435-2A>G)	.	.	splicing	ENSG00000150636(ENST00000319445:exon8:c.1435-2A>G;ENST00000360242:exon8:c.1435-2A>G)	.	.	0.999985730311967	0.882
18	66721265	A	T	18	69054028	y	y	splicing	CCDC102B(NM_001093729:exon10:c.1435-2A>T;NM_024781:exon8:c.1435-2A>T)	.	.	splicing	ENSG00000150636(ENST00000319445:exon8:c.1435-2A>T;ENST00000360242:exon8:c.1435-2A>T)	.	.	0.999990611969007	0.894
18	66721266	G	A	18	69054029	y	y	splicing	CCDC102B(NM_001093729:exon10:c.1435-1G>A;NM_024781:exon8:c.1435-1G>A)	.	.	splicing	ENSG00000150636(ENST00000319445:exon8:c.1435-1G>A;ENST00000360242:exon8:c.1435-1G>A)	.	.	0.999929744196534	0.778
18	66721266	G	C	18	69054029	y	y	splicing	CCDC102B(NM_001093729:exon10:c.1435-1G>C;NM_024781:exon8:c.1435-1G>C)	.	.	splicing	ENSG00000150636(ENST00000319445:exon8:c.1435-1G>C;ENST00000360242:exon8:c.1435-1G>C)	.	.	0.999929744196534	0.752
18	66721266	G	T	18	69054029	y	y	splicing	CCDC102B(NM_001093729:exon10:c.1435-1G>T;NM_024781:exon8:c.1435-1G>T)	.	.	splicing	ENSG00000150636(ENST00000319445:exon8:c.1435-1G>T;ENST00000360242:exon8:c.1435-1G>T)	.	.	0.999929744196534	0.748
18	66721267	C	A	18	69054030	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon10:c.C1435A:p.L479I;CCDC102B:NM_024781:exon8:c.C1435A:p.L479I;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon8:c.C1435A:p.L479I;ENSG00000150636:ENST00000360242:exon8:c.C1435A:p.L479I;	4.94368702051697E-4	0.0
18	66721267	C	G	18	69054030	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon10:c.C1435G:p.L479V;CCDC102B:NM_024781:exon8:c.C1435G:p.L479V;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon8:c.C1435G:p.L479V;ENSG00000150636:ENST00000360242:exon8:c.C1435G:p.L479V;	3.26076874280505E-4	0.182
18	66721267	C	T	18	69054030	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon10:c.C1435T:p.L479F;CCDC102B:NM_024781:exon8:c.C1435T:p.L479F;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon8:c.C1435T:p.L479F;ENSG00000150636:ENST00000360242:exon8:c.C1435T:p.L479F;	0.00630505973162303	0.136
18	66721268	T	A	18	69054031	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon10:c.T1436A:p.L479H;CCDC102B:NM_024781:exon8:c.T1436A:p.L479H;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon8:c.T1436A:p.L479H;ENSG00000150636:ENST00000360242:exon8:c.T1436A:p.L479H;	0.0116318734262363	0.036
18	66721268	T	C	18	69054031	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon10:c.T1436C:p.L479P;CCDC102B:NM_024781:exon8:c.T1436C:p.L479P;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon8:c.T1436C:p.L479P;ENSG00000150636:ENST00000360242:exon8:c.T1436C:p.L479P;	0.0195905309134323	0.136
18	66721268	T	G	18	69054031	y	y	exonic	CCDC102B	nonsynonymous SNV	CCDC102B:NM_001093729:exon10:c.T1436G:p.L479R;CCDC102B:NM_024781:exon8:c.T1436G:p.L479R;	exonic	ENSG00000150636	nonsynonymous SNV	ENSG00000150636:ENST00000319445:exon8:c.T1436G:p.L479R;ENSG00000150636:ENST00000360242:exon8:c.T1436G:p.L479R;	0.007688245130668	0.04
18	67068544	G	A	18	69401308	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon1:c.G64A:p.G22R;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G64A:p.G22R;	0.527363070695829	0.75
18	67068544	G	C	18	69401308	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon1:c.G64C:p.G22R;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G64C:p.G22R;	0.616390509979854	0.742
18	67068544	G	T	18	69401308	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon1:c.G64T:p.G22W;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G64T:p.G22W;	0.844475187417912	0.83
18	67068545	G	A	18	69401309	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon1:c.G65A:p.G22E;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G65A:p.G22E;	0.669630762210457	0.57
18	67068545	G	C	18	69401309	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon1:c.G65C:p.G22A;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G65C:p.G22A;	0.909696310157214	0.838
18	67068545	G	T	18	69401309	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon1:c.G65T:p.G22V;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G65T:p.G22V;	0.727683209957936	0.688
18	67068546	G	A	18	69401310	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon1:c.G66A:p.G22G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G66A:p.G22G;	0.995843391615191	0.892
18	67068546	G	C	18	69401310	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon1:c.G66C:p.G22G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G66C:p.G22G;	0.996588849148949	0.802
18	67068546	G	T	18	69401310	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon1:c.G66T:p.G22G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon1:c.G66T:p.G22G;	0.996736612416719	0.922
18	67068547	G	A	18	69401311	y	y	splicing	DOK6(NM_152721:exon1:c.66+1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon1:c.66+1G>A)	.	.	0.99993097185176	0.93
18	67068547	G	C	18	69401311	y	y	splicing	DOK6(NM_152721:exon1:c.66+1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon1:c.66+1G>C)	.	.	0.999915655639342	0.928
18	67068547	G	T	18	69401311	y	y	splicing	DOK6(NM_152721:exon1:c.66+1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon1:c.66+1G>T)	.	.	0.999915655639342	0.93
18	67068548	T	A	18	69401312	y	y	splicing	DOK6(NM_152721:exon1:c.66+2T>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon1:c.66+2T>A)	.	.	0.999791458200482	0.754
18	67068548	T	C	18	69401312	y	y	splicing	DOK6(NM_152721:exon1:c.66+2T>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon1:c.66+2T>C)	.	.	0.998071094273336	0.688
18	67068548	T	G	18	69401312	y	y	splicing	DOK6(NM_152721:exon1:c.66+2T>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon1:c.66+2T>G)	.	.	0.999791458200482	0.732
18	67068549	G	A	18	69401313	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	4.39259483090634E-5	0.002
18	67068549	G	C	18	69401313	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.939137356800674	0.622
18	67068549	G	T	18	69401313	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.950429757537613	0.544
18	67068550	A	C	18	69401314	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.888712455754477	0.654
18	67068550	A	G	18	69401314	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.947413934692462	0.724
18	67068550	A	T	18	69401314	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.948042349793848	0.726
18	67068551	G	A	18	69401315	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999905529152054	0.944
18	67068551	G	C	18	69401315	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999983363336936	0.97
18	67068551	G	T	18	69401315	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.99997448028654	0.978
18	67068552	T	A	18	69401316	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.477279148376488	0.518
18	67068552	T	C	18	69401316	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0699539652235789	0.186
18	67068552	T	G	18	69401316	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0380566012304174	0.242
18	67068553	G	A	18	69401317	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.93588999873246E-5	0.008
18	67068553	G	C	18	69401317	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.76281430017076E-5	0.01
18	67068553	G	T	18	69401317	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.29377605011243E-4	0.012
18	67068554	G	A	18	69401318	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.09611108307572E-5	0.008
18	67068554	G	C	18	69401318	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	6.05834979650363E-5	0.006
18	67068554	G	T	18	69401318	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	4.7740157890093E-5	0.006
18	67231711	A	C	18	69564475	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	9.10272881726303E-5	0.01
18	67231711	A	G	18	69564475	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.77447288112722E-4	0.028
18	67231711	A	T	18	69564475	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	8.82490114268222E-5	0.006
18	67231712	T	A	18	69564476	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.997344923725595	0.906
18	67231712	T	C	18	69564476	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.942757084395546	0.514
18	67231712	T	G	18	69564476	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.999843865473106	0.946
18	67231713	T	A	18	69564477	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.996922177512014	0.914
18	67231713	T	C	18	69564477	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.589579567576089	0.524
18	67231713	T	G	18	69564477	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.993805466043217	0.788
18	67231714	T	A	18	69564478	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.99981508136188	0.934
18	67231714	T	C	18	69564478	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	2.73672717254332E-5	0.016
18	67231714	T	G	18	69564478	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.234601373715763	0.426
18	67231715	G	A	18	69564479	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.94468610562628E-4	0.012
18	67231715	G	C	18	69564479	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	4.4000683852078E-5	0.006
18	67231715	G	T	18	69564479	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	4.26873956942602E-5	0.004
18	67231716	C	A	18	69564480	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00255946982747805	0.122
18	67231716	C	G	18	69564480	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	3.17506043893001E-4	0.026
18	67231716	C	T	18	69564480	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	2.19039529970419E-5	0.0
18	67231717	T	A	18	69564481	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.987459685597407	0.81
18	67231717	T	C	18	69564481	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0039900995346228	0.082
18	67231717	T	G	18	69564481	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.971015239960369	0.804
18	67231718	T	A	18	69564482	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.904084821392564	0.71
18	67231718	T	C	18	69564482	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0609553917203512	0.208
18	67231718	T	G	18	69564482	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.970591727697382	0.704
18	67231719	T	A	18	69564483	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	7.72262852788731E-5	0.008
18	67231719	T	C	18	69564483	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	4.42379643113424E-5	0.008
18	67231719	T	G	18	69564483	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	7.11274713247641E-5	0.0
18	67231720	C	A	18	69564484	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.98769028128677	0.832
18	67231720	C	G	18	69564484	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.99973129673624	0.91
18	67231720	C	T	18	69564484	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0410770387855867	0.164
18	67231721	A	C	18	69564485	y	y	splicing	DOK6(NM_152721:exon2:c.67-2A>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.67-2A>C)	.	.	0.999988247793601	0.932
18	67231721	A	G	18	69564485	y	y	splicing	DOK6(NM_152721:exon2:c.67-2A>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.67-2A>G)	.	.	0.999988247793601	0.932
18	67231721	A	T	18	69564485	y	y	splicing	DOK6(NM_152721:exon2:c.67-2A>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.67-2A>T)	.	.	0.999988247793601	0.932
18	67231722	G	A	18	69564486	y	y	splicing	DOK6(NM_152721:exon2:c.67-1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.67-1G>A)	.	.	0.999990361384395	0.938
18	67231722	G	C	18	69564486	y	y	splicing	DOK6(NM_152721:exon2:c.67-1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.67-1G>C)	.	.	0.999990361384395	0.938
18	67231722	G	T	18	69564486	y	y	splicing	DOK6(NM_152721:exon2:c.67-1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.67-1G>T)	.	.	0.999990361384395	0.938
18	67231723	A	C	18	69564487	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.A67C:p.I23L;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.A67C:p.I23L;	0.00563175090898172	0.216
18	67231723	A	G	18	69564487	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.A67G:p.I23V;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.A67G:p.I23V;	1.24138997541996E-4	0.0
18	67231723	A	T	18	69564487	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.A67T:p.I23F;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.A67T:p.I23F;	0.00807131851719841	0.16
18	67231724	T	A	18	69564488	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.T68A:p.I23N;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.T68A:p.I23N;	0.563704758202013	0.638
18	67231724	T	C	18	69564488	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.T68C:p.I23T;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.T68C:p.I23T;	0.535209757188874	0.628
18	67231724	T	G	18	69564488	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.T68G:p.I23S;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.T68G:p.I23S;	0.563704758202013	0.652
18	67231828	A	C	18	69564592	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.A172C:p.K58Q;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.A172C:p.K58Q;	0.871294099739339	0.772
18	67231828	A	G	18	69564592	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.A172G:p.K58E;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.A172G:p.K58E;	0.67036123035023	0.596
18	67231828	A	T	18	69564592	y	y	exonic	DOK6	stopgain SNV	DOK6:NM_152721:exon2:c.A172T:p.K58X;	exonic	ENSG00000206052	stopgain SNV	ENSG00000206052:ENST00000382713:exon2:c.A172T:p.K58X;	0.987035120007376	0.656
18	67231829	A	C	18	69564593	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.A173C:p.K58T;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.A173C:p.K58T;	0.983617213775442	0.64
18	67231829	A	G	18	69564593	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.A173G:p.K58R;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.A173G:p.K58R;	0.988623093658023	0.734
18	67231829	A	T	18	69564593	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.A173T:p.K58M;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.A173T:p.K58M;	0.976550472812552	0.566
18	67231830	G	A	18	69564594	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon2:c.G174A:p.K58K;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.G174A:p.K58K;	0.941569843197731	0.818
18	67231830	G	C	18	69564594	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.G174C:p.K58N;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.G174C:p.K58N;	0.992781799141323	0.888
18	67231830	G	T	18	69564594	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon2:c.G174T:p.K58N;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon2:c.G174T:p.K58N;	0.989181718340316	0.79
18	67231831	G	A	18	69564595	y	y	splicing	DOK6(NM_152721:exon2:c.174+1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.174+1G>A)	.	.	0.999990361384395	0.938
18	67231831	G	C	18	69564595	y	y	splicing	DOK6(NM_152721:exon2:c.174+1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.174+1G>C)	.	.	0.999990361384395	0.938
18	67231831	G	T	18	69564595	y	y	splicing	DOK6(NM_152721:exon2:c.174+1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.174+1G>T)	.	.	0.999990361384395	0.938
18	67231832	T	A	18	69564596	y	y	splicing	DOK6(NM_152721:exon2:c.174+2T>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.174+2T>A)	.	.	0.999988247793601	0.93
18	67231832	T	C	18	69564596	y	y	splicing	DOK6(NM_152721:exon2:c.174+2T>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.174+2T>C)	.	.	0.996046924575706	0.682
18	67231832	T	G	18	69564596	y	y	splicing	DOK6(NM_152721:exon2:c.174+2T>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon2:c.174+2T>G)	.	.	0.999988247793601	0.93
18	67231833	A	C	18	69564597	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.241247572328632	0.376
18	67231833	A	G	18	69564597	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	8.25114513201535E-4	0.032
18	67231833	A	T	18	69564597	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.287320341738043	0.4
18	67231834	A	C	18	69564598	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.962730699170123	0.734
18	67231834	A	G	18	69564598	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.966499030877423	0.766
18	67231834	A	T	18	69564598	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.955263568398917	0.76
18	67231835	G	A	18	69564599	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.69134521846646	0.614
18	67231835	G	C	18	69564599	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.722656814181423	0.608
18	67231835	G	T	18	69564599	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.846947430970384	0.63
18	67231836	T	A	18	69564600	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00147038675683637	0.082
18	67231836	T	C	18	69564600	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00158716683545952	0.048
18	67231836	T	G	18	69564600	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	3.75561866682237E-4	0.04
18	67231837	C	A	18	69564601	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0045204461054641	0.034
18	67231837	C	G	18	69564601	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0045204461054641	0.036
18	67231837	C	T	18	69564601	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00409062928811631	0.036
18	67231838	A	C	18	69564602	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	7.83481773765444E-5	0.0
18	67231838	A	G	18	69564602	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.1901289675741E-4	0.002
18	67231838	A	T	18	69564602	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	7.10780691021534E-5	0.0
18	67266608	T	A	18	69599372	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0149276147756028	0.222
18	67266608	T	C	18	69599372	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00891490440821865	0.16
18	67266608	T	G	18	69599372	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0126602674753405	0.218
18	67266609	T	A	18	69599373	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0239883482760478	0.372
18	67266609	T	C	18	69599373	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00672533664974726	0.148
18	67266609	T	G	18	69599373	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00695064569144781	0.234
18	67266610	T	A	18	69599374	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.74861931673181E-4	0.144
18	67266610	T	C	18	69599374	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.54022514206907E-5	0.046
18	67266610	T	G	18	69599374	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.90895023213438E-4	0.116
18	67266611	T	A	18	69599375	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.34033063591522E-4	0.136
18	67266611	T	C	18	69599375	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.54022514206907E-5	0.054
18	67266611	T	G	18	69599375	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	7.19546894997374E-5	0.098
18	67266612	C	A	18	69599376	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0109256380624266	0.078
18	67266612	C	G	18	69599376	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00490114217657085	0.102
18	67266612	C	T	18	69599376	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	8.82190769439589E-4	0.012
18	67266613	T	A	18	69599377	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0420969269652383	0.12
18	67266613	T	C	18	69599377	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	2.65893877874252E-4	0.014
18	67266613	T	G	18	69599377	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0309562902180886	0.18
18	67266614	T	A	18	69599378	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.924704160493372	0.588
18	67266614	T	C	18	69599378	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.143030337726391	0.462
18	67266614	T	G	18	69599378	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.902132058985125	0.552
18	67266615	T	A	18	69599379	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.03286479326548	0.196
18	67266615	T	C	18	69599379	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00339928493254578	0.044
18	67266615	T	G	18	69599379	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0310300963730978	0.212
18	67266616	C	A	18	69599380	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	7.33211955135155E-5	0.018
18	67266616	C	G	18	69599380	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	2.13829198073969E-4	0.014
18	67266616	C	T	18	69599380	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	7.33211955135155E-5	0.012
18	67266617	A	C	18	69599381	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	5.43492710973698E-5	0.04
18	67266617	A	G	18	69599381	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.0634124830708762	0.296
18	67266617	A	T	18	69599381	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.48898520922164E-4	0.014
18	67266618	A	C	18	69599382	y	y	splicing	DOK6(NM_152721:exon3:c.175-2A>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.175-2A>C)	.	.	0.999988247793601	0.93
18	67266618	A	G	18	69599382	y	y	splicing	DOK6(NM_152721:exon3:c.175-2A>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.175-2A>G)	.	.	0.999988247793601	0.93
18	67266618	A	T	18	69599382	y	y	splicing	DOK6(NM_152721:exon3:c.175-2A>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.175-2A>T)	.	.	0.999988247793601	0.93
18	67266619	G	A	18	69599383	y	y	splicing	DOK6(NM_152721:exon3:c.175-1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.175-1G>A)	.	.	0.999990361384395	0.938
18	67266619	G	C	18	69599383	y	y	splicing	DOK6(NM_152721:exon3:c.175-1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.175-1G>C)	.	.	0.999990361384395	0.938
18	67266619	G	T	18	69599383	y	y	splicing	DOK6(NM_152721:exon3:c.175-1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.175-1G>T)	.	.	0.999990361384395	0.938
18	67266620	G	A	18	69599384	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.G175A:p.V59I;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.G175A:p.V59I;	0.998614123784713	0.876
18	67266620	G	C	18	69599384	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.G175C:p.V59L;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.G175C:p.V59L;	0.999669294497065	0.976
18	67266620	G	T	18	69599384	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.G175T:p.V59L;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.G175T:p.V59L;	0.99984939096424	0.988
18	67266621	T	A	18	69599385	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.T176A:p.V59E;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.T176A:p.V59E;	0.468852092229286	0.646
18	67266621	T	C	18	69599385	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.T176C:p.V59A;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.T176C:p.V59A;	0.396055522362176	0.654
18	67266621	T	G	18	69599385	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.T176G:p.V59G;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.T176G:p.V59G;	0.53485344366835	0.63
18	67266732	C	A	18	69599496	y	y	exonic	DOK6	stopgain SNV	DOK6:NM_152721:exon3:c.C287A:p.S96X;	exonic	ENSG00000206052	stopgain SNV	ENSG00000206052:ENST00000382713:exon3:c.C287A:p.S96X;	0.973327418457201	0.854
18	67266732	C	G	18	69599496	y	y	exonic	DOK6	stopgain SNV	DOK6:NM_152721:exon3:c.C287G:p.S96X;	exonic	ENSG00000206052	stopgain SNV	ENSG00000206052:ENST00000382713:exon3:c.C287G:p.S96X;	0.946987293562274	0.664
18	67266732	C	T	18	69599496	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.C287T:p.S96L;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.C287T:p.S96L;	0.997966578162384	0.742
18	67266733	A	C	18	69599497	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon3:c.A288C:p.S96S;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.A288C:p.S96S;	0.0890858605531255	0.382
18	67266733	A	G	18	69599497	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon3:c.A288G:p.S96S;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.A288G:p.S96S;	0.0945918983033648	0.398
18	67266733	A	T	18	69599497	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon3:c.A288T:p.S96S;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.A288T:p.S96S;	0.0817047728681548	0.4
18	67266734	G	A	18	69599498	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.G289A:p.E97K;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.G289A:p.E97K;	0.999968043260234	0.978
18	67266734	G	C	18	69599498	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon3:c.G289C:p.E97Q;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon3:c.G289C:p.E97Q;	0.999978895784518	0.966
18	67266734	G	T	18	69599498	y	y	exonic	DOK6	stopgain SNV	DOK6:NM_152721:exon3:c.G289T:p.E97X;	exonic	ENSG00000206052	stopgain SNV	ENSG00000206052:ENST00000382713:exon3:c.G289T:p.E97X;	0.99988139376593	0.982
18	67266735	G	A	18	69599499	y	y	splicing	DOK6(NM_152721:exon3:c.289+1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.289+1G>A)	.	.	0.999989072007339	0.934
18	67266735	G	C	18	69599499	y	y	splicing	DOK6(NM_152721:exon3:c.289+1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.289+1G>C)	.	.	0.999980428708689	0.936
18	67266735	G	T	18	69599499	y	y	splicing	DOK6(NM_152721:exon3:c.289+1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.289+1G>T)	.	.	0.999980428708689	0.934
18	67266736	T	A	18	69599500	y	y	splicing	DOK6(NM_152721:exon3:c.289+2T>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.289+2T>A)	.	.	0.999978952611685	0.926
18	67266736	T	C	18	69599500	y	y	splicing	DOK6(NM_152721:exon3:c.289+2T>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.289+2T>C)	.	.	0.982106279493755	0.7
18	67266736	T	G	18	69599500	y	y	splicing	DOK6(NM_152721:exon3:c.289+2T>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon3:c.289+2T>G)	.	.	0.99994568797423	0.926
18	67266737	A	C	18	69599501	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.873133069649128	0.602
18	67266737	A	G	18	69599501	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.00983046588086064	0.152
18	67266737	A	T	18	69599501	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.985831684338509	0.638
18	67266738	A	C	18	69599502	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.177519796378187	0.53
18	67266738	A	G	18	69599502	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.145636521194087	0.414
18	67266738	A	T	18	69599502	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.397232714329065	0.51
18	67266739	G	A	18	69599503	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.932277006792519	0.584
18	67266739	G	C	18	69599503	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.924594426272929	0.512
18	67266739	G	T	18	69599503	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	0.971457252655892	0.716
18	67266740	C	A	18	69599504	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	1.12628631278532E-4	0.002
18	67266740	C	G	18	69599504	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	9.54904704706737E-5	0.028
18	67266740	C	T	18	69599504	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	2.46050594396375E-5	0.0
18	67266741	T	A	18	69599505	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	3.46425991095372E-5	0.0
18	67266741	T	C	18	69599505	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	3.46425991095372E-5	0.0
18	67266741	T	G	18	69599505	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	5.40839623268995E-5	0.002
18	67266742	A	C	18	69599506	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	3.64745399314608E-5	0.0
18	67266742	A	G	18	69599506	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	6.27134770067358E-5	0.0
18	67266742	A	T	18	69599506	y	y	intronic	DOK6	.	.	ncRNA_intronic	ENSG00000265643	.	.	4.99196838039782E-5	0.0
18	67344958	G	A	18	69677722	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999697061237508	0.944
18	67344958	G	C	18	69677722	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.39803542233335	0.56
18	67344958	G	T	18	69677722	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.39803542233335	0.514
18	67344959	G	A	18	69677723	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	9.18675124950817E-5	0.056
18	67344959	G	C	18	69677723	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	6.49598647860449E-5	0.076
18	67344959	G	T	18	69677723	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.31804086149734E-4	0.074
18	67344960	T	A	18	69677724	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999823778255504	0.934
18	67344960	T	C	18	69677724	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.823983738348666	0.54
18	67344960	T	G	18	69677724	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999565066487034	0.934
18	67344961	T	A	18	69677725	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.430675800080316	0.316
18	67344961	T	C	18	69677725	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	4.85071100081741E-5	0.04
18	67344961	T	G	18	69677725	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.334223284150488	0.342
18	67344962	A	C	18	69677726	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.75625993652799E-5	0.006
18	67344962	A	G	18	69677726	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.68513184206921E-5	0.01
18	67344962	A	T	18	69677726	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.11469137936433E-5	0.006
18	67344963	C	A	18	69677727	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00140428269848161	0.118
18	67344963	C	G	18	69677727	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999767125585942	0.912
18	67344963	C	T	18	69677727	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.23807088542339E-5	0.01
18	67344964	T	A	18	69677728	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999010443024266	0.888
18	67344964	T	C	18	69677728	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.236463952747249	0.578
18	67344964	T	G	18	69677728	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.99730322941066	0.874
18	67344965	T	A	18	69677729	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999922807024278	0.95
18	67344965	T	C	18	69677729	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.961426850368841	0.566
18	67344965	T	G	18	69677729	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999908466206532	0.916
18	67344966	T	A	18	69677730	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.58093176824625E-4	0.054
18	67344966	T	C	18	69677730	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.61957189829071E-4	0.062
18	67344966	T	G	18	69677730	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	5.24439126219795E-4	0.064
18	67344967	C	A	18	69677731	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999963672135781	0.956
18	67344967	C	G	18	69677731	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999958297995151	0.986
18	67344967	C	T	18	69677731	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.997571727640733	0.41
18	67344968	A	C	18	69677732	y	y	splicing	DOK6(NM_152721:exon4:c.290-2A>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.290-2A>C)	.	.	0.999988247793601	0.954
18	67344968	A	G	18	69677732	y	y	splicing	DOK6(NM_152721:exon4:c.290-2A>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.290-2A>G)	.	.	0.999988247793601	0.954
18	67344968	A	T	18	69677732	y	y	splicing	DOK6(NM_152721:exon4:c.290-2A>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.290-2A>T)	.	.	0.999988247793601	0.954
18	67344969	G	A	18	69677733	y	y	splicing	DOK6(NM_152721:exon4:c.290-1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.290-1G>A)	.	.	0.999990361384395	0.952
18	67344969	G	C	18	69677733	y	y	splicing	DOK6(NM_152721:exon4:c.290-1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.290-1G>C)	.	.	0.999990361384395	0.952
18	67344969	G	T	18	69677733	y	y	splicing	DOK6(NM_152721:exon4:c.290-1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.290-1G>T)	.	.	0.999990361384395	0.952
18	67344970	A	C	18	69677734	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.A290C:p.E97A;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.A290C:p.E97A;	0.977682692875083	0.628
18	67344970	A	G	18	69677734	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.A290G:p.E97G;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.A290G:p.E97G;	0.698501781543965	0.514
18	67344970	A	T	18	69677734	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.A290T:p.E97V;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.A290T:p.E97V;	0.959455984517283	0.582
18	67344971	G	A	18	69677735	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon4:c.G291A:p.E97E;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.G291A:p.E97E;	0.202803477468737	0.354
18	67344971	G	C	18	69677735	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.G291C:p.E97D;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.G291C:p.E97D;	0.0639657525469793	0.338
18	67344971	G	T	18	69677735	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.G291T:p.E97D;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.G291T:p.E97D;	0.0764521092891402	0.288
18	67345087	A	C	18	69677851	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.A407C:p.N136T;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.A407C:p.N136T;	0.446190770122834	0.44
18	67345087	A	G	18	69677851	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.A407G:p.N136S;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.A407G:p.N136S;	0.788475371393009	0.49
18	67345087	A	T	18	69677851	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.A407T:p.N136I;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.A407T:p.N136I;	0.982478231827055	0.692
18	67345088	T	A	18	69677852	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.T408A:p.N136K;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.T408A:p.N136K;	1.3699593473605E-4	0.202
18	67345088	T	C	18	69677852	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon4:c.T408C:p.N136N;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.T408C:p.N136N;	1.73851111023715E-4	0.034
18	67345088	T	G	18	69677852	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.T408G:p.N136K;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.T408G:p.N136K;	7.97288547828584E-4	0.084
18	67345089	G	A	18	69677853	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.G409A:p.E137K;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.G409A:p.E137K;	0.999989042796428	1.0
18	67345089	G	C	18	69677853	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon4:c.G409C:p.E137Q;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon4:c.G409C:p.E137Q;	0.999996833638828	0.992
18	67345089	G	T	18	69677853	y	y	exonic	DOK6	stopgain SNV	DOK6:NM_152721:exon4:c.G409T:p.E137X;	exonic	ENSG00000206052	stopgain SNV	ENSG00000206052:ENST00000382713:exon4:c.G409T:p.E137X;	0.999979958499174	0.964
18	67345090	G	A	18	69677854	y	y	splicing	DOK6(NM_152721:exon4:c.409+1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.409+1G>A;ENST00000582992:exon1:c.120+1G>A)	.	.	0.999990361384395	0.938
18	67345090	G	C	18	69677854	y	y	splicing	DOK6(NM_152721:exon4:c.409+1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.409+1G>C;ENST00000582992:exon1:c.120+1G>C)	.	.	0.999990361384395	0.938
18	67345090	G	T	18	69677854	y	y	splicing	DOK6(NM_152721:exon4:c.409+1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.409+1G>T;ENST00000582992:exon1:c.120+1G>T)	.	.	0.999990361384395	0.938
18	67345091	T	A	18	69677855	y	y	splicing	DOK6(NM_152721:exon4:c.409+2T>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.409+2T>A;ENST00000582992:exon1:c.120+2T>A)	.	.	0.999988247793601	0.932
18	67345091	T	C	18	69677855	y	y	splicing	DOK6(NM_152721:exon4:c.409+2T>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.409+2T>C;ENST00000582992:exon1:c.120+2T>C)	.	.	0.996388929962285	0.7
18	67345091	T	G	18	69677855	y	y	splicing	DOK6(NM_152721:exon4:c.409+2T>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon4:c.409+2T>G;ENST00000582992:exon1:c.120+2T>G)	.	.	0.999988247793601	0.932
18	67345092	A	C	18	69677856	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.99803477691166	0.77
18	67345092	A	G	18	69677856	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.697693892339752	0.53
18	67345092	A	T	18	69677856	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.992527085920529	0.722
18	67345093	G	A	18	69677857	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.50584446104187E-4	0.178
18	67345093	G	C	18	69677857	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.04815345232031E-5	0.078
18	67345093	G	T	18	69677857	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	4.79648274441949E-5	0.066
18	67345094	G	A	18	69677858	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999993329216852	0.988
18	67345094	G	C	18	69677858	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999992894899704	0.996
18	67345094	G	T	18	69677858	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999994416378153	0.93
18	67345095	T	A	18	69677859	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.795085553496321	0.528
18	67345095	T	C	18	69677859	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.489207517724899	0.43
18	67345095	T	G	18	69677859	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.867136194579727	0.564
18	67345096	G	A	18	69677860	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	5.04994210852696E-4	0.084
18	67345096	G	C	18	69677860	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.46100796644433E-4	0.054
18	67345096	G	T	18	69677860	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	4.45147507237131E-5	0.032
18	67345097	T	A	18	69677861	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.68532703976442E-4	0.012
18	67345097	T	C	18	69677861	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	4.38931069852644E-4	0.04
18	67345097	T	G	18	69677861	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	8.73179451245711E-4	0.168
18	67365628	G	A	18	69698392	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.92950214580829E-5	0.0
18	67365628	G	C	18	69698392	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	7.83559129380614E-6	0.0
18	67365628	G	T	18	69698392	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.78089872013049E-5	0.0
18	67365629	T	A	18	69698393	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00574999773598799	0.23
18	67365629	T	C	18	69698393	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	7.4827757610259E-4	0.072
18	67365629	T	G	18	69698393	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00691467110376149	0.222
18	67365630	C	A	18	69698394	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.28078103889416E-4	0.052
18	67365630	C	G	18	69698394	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.135482598321E-4	0.032
18	67365630	C	T	18	69698394	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	8.41525530566888E-6	0.0
18	67365631	T	A	18	69698395	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	6.46633475218917E-4	0.192
18	67365631	T	C	18	69698395	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	6.01308847076841E-5	0.016
18	67365631	T	G	18	69698395	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.51752673028684E-4	0.164
18	67365632	C	A	18	69698396	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00130684217339959	0.086
18	67365632	C	G	18	69698396	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.64832807781948E-4	0.018
18	67365632	C	T	18	69698396	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.33813991849646E-5	0.0
18	67365633	T	A	18	69698397	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00313004319361765	0.14
18	67365633	T	C	18	69698397	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	7.1879911816364E-5	0.006
18	67365633	T	G	18	69698397	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00312565550802155	0.116
18	67365634	T	A	18	69698398	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00827200035845305	0.108
18	67365634	T	C	18	69698398	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.58840074812118E-5	0.0
18	67365634	T	G	18	69698398	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00617888184172367	0.166
18	67365635	C	A	18	69698399	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.57415792820839E-4	0.064
18	67365635	C	G	18	69698399	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.59462903876837E-4	0.086
18	67365635	C	T	18	69698399	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.32772584064248E-5	0.004
18	67365636	A	C	18	69698400	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.48569674070552E-5	0.002
18	67365636	A	G	18	69698400	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	6.93130531705907E-5	0.004
18	67365636	A	T	18	69698400	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.37738306575515E-4	0.006
18	67365637	C	A	18	69698401	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.808525487946495	0.582
18	67365637	C	G	18	69698401	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999317131766149	0.962
18	67365637	C	T	18	69698401	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.8594480568032E-4	0.01
18	67365638	A	C	18	69698402	y	y	splicing	DOK6(NM_152721:exon5:c.410-2A>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.410-2A>C;ENST00000582992:exon2:c.121-2A>C)	.	.	0.99994568797423	0.948
18	67365638	A	G	18	69698402	y	y	splicing	DOK6(NM_152721:exon5:c.410-2A>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.410-2A>G;ENST00000582992:exon2:c.121-2A>G)	.	.	0.99994568797423	0.948
18	67365638	A	T	18	69698402	y	y	splicing	DOK6(NM_152721:exon5:c.410-2A>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.410-2A>T;ENST00000582992:exon2:c.121-2A>T)	.	.	0.99994568797423	0.944
18	67365639	G	A	18	69698403	y	y	splicing	DOK6(NM_152721:exon5:c.410-1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.410-1G>A;ENST00000582992:exon2:c.121-1G>A)	.	.	0.999949496871441	0.932
18	67365639	G	C	18	69698403	y	y	splicing	DOK6(NM_152721:exon5:c.410-1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.410-1G>C;ENST00000582992:exon2:c.121-1G>C)	.	.	0.999949496871441	0.938
18	67365639	G	T	18	69698403	y	y	splicing	DOK6(NM_152721:exon5:c.410-1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.410-1G>T;ENST00000582992:exon2:c.121-1G>T)	.	.	0.999949496871441	0.932
18	67365640	A	C	18	69698404	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.A410C:p.E137A;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.A410C:p.E137A;	0.00496008168703459	0.1
18	67365640	A	G	18	69698404	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.A410G:p.E137G;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.A410G:p.E137G;	0.00243947569254682	0.008
18	67365640	A	T	18	69698404	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.A410T:p.E137V;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.A410T:p.E137V;	0.00614755394298252	0.12
18	67365641	G	A	18	69698405	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon5:c.G411A:p.E137E;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.G411A:p.E137E;	4.07587733396865E-5	0.0
18	67365641	G	C	18	69698405	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.G411C:p.E137D;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.G411C:p.E137D;	3.72472328331557E-5	0.0
18	67365641	G	T	18	69698405	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.G411T:p.E137D;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.G411T:p.E137D;	1.7782032571368E-5	0.0
18	67365827	A	C	18	69698591	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon5:c.A597C:p.G199G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.A597C:p.G199G;	6.47719748011391E-5	0.006
18	67365827	A	G	18	69698591	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon5:c.A597G:p.G199G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.A597G:p.G199G;	4.96060155713437E-4	0.016
18	67365827	A	T	18	69698591	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon5:c.A597T:p.G199G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.A597T:p.G199G;	0.0448873143332612	0.474
18	67365828	A	C	18	69698592	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon5:c.A598C:p.R200R;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.A598C:p.R200R;	0.99203694071193	0.854
18	67365828	A	G	18	69698592	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.A598G:p.R200G;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.A598G:p.R200G;	0.993492439984308	0.964
18	67365828	A	T	18	69698592	y	y	exonic	DOK6	stopgain SNV	DOK6:NM_152721:exon5:c.A598T:p.R200X;	exonic	ENSG00000206052	stopgain SNV	ENSG00000206052:ENST00000382713:exon5:c.A598T:p.R200X;	0.990370788678502	0.766
18	67365829	G	A	18	69698593	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.G599A:p.R200K;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.G599A:p.R200K;	0.999971483738294	0.996
18	67365829	G	C	18	69698593	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.G599C:p.R200T;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.G599C:p.R200T;	0.999884904768937	0.944
18	67365829	G	T	18	69698593	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon5:c.G599T:p.R200I;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon5:c.G599T:p.R200I;	0.999952504811269	0.956
18	67365830	G	A	18	69698594	y	y	splicing	DOK6(NM_152721:exon5:c.599+1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.599+1G>A;ENST00000582992:exon2:c.310+1G>A)	.	.	0.999989072007339	0.934
18	67365830	G	C	18	69698594	y	y	splicing	DOK6(NM_152721:exon5:c.599+1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.599+1G>C;ENST00000582992:exon2:c.310+1G>C)	.	.	0.999989072007339	0.934
18	67365830	G	T	18	69698594	y	y	splicing	DOK6(NM_152721:exon5:c.599+1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.599+1G>T;ENST00000582992:exon2:c.310+1G>T)	.	.	0.999989072007339	0.934
18	67365831	T	A	18	69698595	y	y	splicing	DOK6(NM_152721:exon5:c.599+2T>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.599+2T>A;ENST00000582992:exon2:c.310+2T>A)	.	.	0.999988247793601	0.93
18	67365831	T	C	18	69698595	y	y	splicing	DOK6(NM_152721:exon5:c.599+2T>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.599+2T>C;ENST00000582992:exon2:c.310+2T>C)	.	.	0.994669226766359	0.654
18	67365831	T	G	18	69698595	y	y	splicing	DOK6(NM_152721:exon5:c.599+2T>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon5:c.599+2T>G;ENST00000582992:exon2:c.310+2T>G)	.	.	0.999988247793601	0.93
18	67365832	A	C	18	69698596	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.988119894201342	0.814
18	67365832	A	G	18	69698596	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0531412511760252	0.338
18	67365832	A	T	18	69698596	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.990335530044248	0.844
18	67365833	A	C	18	69698597	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.958952234211745	0.7
18	67365833	A	G	18	69698597	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.990774100609271	0.698
18	67365833	A	T	18	69698597	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.988663789273583	0.716
18	67365834	G	A	18	69698598	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.984466339292421	0.65
18	67365834	G	C	18	69698598	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.947999392393411	0.628
18	67365834	G	T	18	69698598	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.986472270462969	0.598
18	67365835	A	C	18	69698599	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.96476597904603E-5	0.01
18	67365835	A	G	18	69698599	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.10626334610893E-5	0.0
18	67365835	A	T	18	69698599	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.15028330319381E-5	0.0
18	67365836	T	A	18	69698600	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.49987850486752E-5	0.0
18	67365836	T	C	18	69698600	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.49987850486752E-5	0.0
18	67365836	T	G	18	69698600	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.49987850486752E-5	0.0
18	67365837	C	A	18	69698601	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.24728899963294E-4	0.0
18	67365837	C	G	18	69698601	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.61996082422776E-4	0.0
18	67365837	C	T	18	69698601	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.15750825092152E-4	0.0
18	67406189	C	A	18	69738953	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.91557454612387	0.586
18	67406189	C	G	18	69738953	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.962320187734835	0.56
18	67406189	C	T	18	69738953	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.675078574528886	0.562
18	67406190	T	A	18	69738954	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.992116295483613	0.8
18	67406190	T	C	18	69738954	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.810357759414908	0.508
18	67406190	T	G	18	69738954	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.99056216911665	0.788
18	67406191	A	C	18	69738955	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	4.90646961860621E-5	0.154
18	67406191	A	G	18	69738955	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.17032358399441E-4	0.198
18	67406191	A	T	18	69738955	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	5.66210766736436E-5	0.066
18	67406192	T	A	18	69738956	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.910191966612084	0.588
18	67406192	T	C	18	69738956	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.531928176090469	0.554
18	67406192	T	G	18	69738956	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999950171757147	0.95
18	67406193	T	A	18	69738957	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00170164838360679	0.168
18	67406193	T	C	18	69738957	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	2.46138440656204E-4	0.01
18	67406193	T	G	18	69738957	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.001123289797187	0.06
18	67406194	C	A	18	69738958	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.124741321055085	0.256
18	67406194	C	G	18	69738958	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0262668560485474	0.23
18	67406194	C	T	18	69738958	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00540173122259233	0.098
18	67406195	T	A	18	69738959	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0543069680839791	0.144
18	67406195	T	C	18	69738959	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.21534173280466E-4	0.028
18	67406195	T	G	18	69738959	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0480352468144092	0.198
18	67406196	C	A	18	69738960	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.188778524176115	0.24
18	67406196	C	G	18	69738960	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.195713592081472	0.288
18	67406196	C	T	18	69738960	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0270296762104461	0.224
18	67406197	A	C	18	69738961	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.258112647099817	0.47
18	67406197	A	G	18	69738961	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.369742859235999	0.494
18	67406197	A	T	18	69738961	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.620695629070641	0.576
18	67406198	C	A	18	69738962	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999971758086911	0.958
18	67406198	C	G	18	69738962	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.999982761930554	0.986
18	67406198	C	T	18	69738962	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.998341041323256	0.512
18	67406199	A	C	18	69738963	y	y	splicing	DOK6(NM_152721:exon6:c.600-2A>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon6:c.600-2A>C;ENST00000582992:exon3:c.311-2A>C)	.	.	0.999988247793601	0.932
18	67406199	A	G	18	69738963	y	y	splicing	DOK6(NM_152721:exon6:c.600-2A>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon6:c.600-2A>G;ENST00000582992:exon3:c.311-2A>G)	.	.	0.999988247793601	0.932
18	67406199	A	T	18	69738963	y	y	splicing	DOK6(NM_152721:exon6:c.600-2A>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon6:c.600-2A>T;ENST00000582992:exon3:c.311-2A>T)	.	.	0.999988247793601	0.932
18	67406200	G	A	18	69738964	y	y	splicing	DOK6(NM_152721:exon6:c.600-1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon6:c.600-1G>A;ENST00000582992:exon3:c.311-1G>A)	.	.	0.999990361384395	0.938
18	67406200	G	C	18	69738964	y	y	splicing	DOK6(NM_152721:exon6:c.600-1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon6:c.600-1G>C;ENST00000582992:exon3:c.311-1G>C)	.	.	0.999990361384395	0.938
18	67406200	G	T	18	69738964	y	y	splicing	DOK6(NM_152721:exon6:c.600-1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon6:c.600-1G>T;ENST00000582992:exon3:c.311-1G>T)	.	.	0.999990361384395	0.938
18	67406201	A	C	18	69738965	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.A600C:p.R200S;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.A600C:p.R200S;	0.143861098845356	0.394
18	67406201	A	G	18	69738965	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon6:c.A600G:p.R200R;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.A600G:p.R200R;	0.40715497434068	0.552
18	67406201	A	T	18	69738965	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.A600T:p.R200S;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.A600T:p.R200S;	0.299623643735379	0.542
18	67406202	A	C	18	69738966	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.A601C:p.M201L;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.A601C:p.M201L;	0.828142150707205	0.784
18	67406202	A	G	18	69738966	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.A601G:p.M201V;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.A601G:p.M201V;	0.189686962150358	0.304
18	67406202	A	T	18	69738966	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.A601T:p.M201L;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.A601T:p.M201L;	0.88814218674596	0.726
18	67406337	C	A	18	69739101	y	n	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon6:c.C736A:p.R246R;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.C736A:p.R246R;	0.962699034600433	0.684
18	67406337	C	G	18	69739101	y	n	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.C736G:p.R246G;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.C736G:p.R246G;	0.246787376759151	0.328
18	67406337	C	T	18	69739101	y	n	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.C736T:p.R246W;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.C736T:p.R246W;	0.993990555504235	0.696
18	67406338	G	A	18	69739102	y	n	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.G737A:p.R246Q;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.G737A:p.R246Q;	0.963320421473209	0.558
18	67406338	G	C	18	69739102	y	n	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.G737C:p.R246P;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.G737C:p.R246P;	0.639109609794173	0.44
18	67406338	G	T	18	69739102	y	n	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon6:c.G737T:p.R246L;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.G737T:p.R246L;	0.948364577986161	0.678
18	67406339	G	A	18	69739103	y	n	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon6:c.G738A:p.R246R;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.G738A:p.R246R;	0.999951192430043	0.946
18	67406339	G	C	18	69739103	y	n	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon6:c.G738C:p.R246R;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.G738C:p.R246R;	0.999990729528441	0.972
18	67406339	G	T	18	69739103	y	n	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon6:c.G738T:p.R246R;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon6:c.G738T:p.R246R;	0.999969029397972	0.998
18	67406340	G	A	18	69739104	y	n	splicing	DOK6(NM_152721:exon6:c.738+1G>A)	.	.	exonic;splicing	ENSG00000206052;ENSG00000206052(ENST00000382713:exon6:c.738+1G>A)	unknown	UNKNOWN	0.999989072007339	0.934
18	67406340	G	C	18	69739104	y	n	splicing	DOK6(NM_152721:exon6:c.738+1G>C)	.	.	exonic;splicing	ENSG00000206052;ENSG00000206052(ENST00000382713:exon6:c.738+1G>C)	unknown	UNKNOWN	0.999989072007339	0.934
18	67406340	G	T	18	69739104	y	n	splicing	DOK6(NM_152721:exon6:c.738+1G>T)	.	.	exonic;splicing	ENSG00000206052;ENSG00000206052(ENST00000382713:exon6:c.738+1G>T)	unknown	UNKNOWN	0.999989072007339	0.934
18	67406341	T	A	18	69739105	y	n	splicing	DOK6(NM_152721:exon6:c.738+2T>A)	.	.	exonic;splicing	ENSG00000206052;ENSG00000206052(ENST00000382713:exon6:c.738+2T>A)	unknown	UNKNOWN	0.999988247793601	0.93
18	67406341	T	C	18	69739105	y	n	splicing	DOK6(NM_152721:exon6:c.738+2T>C)	.	.	exonic;splicing	ENSG00000206052;ENSG00000206052(ENST00000382713:exon6:c.738+2T>C)	unknown	UNKNOWN	0.999947230760958	0.892
18	67406341	T	G	18	69739105	y	n	splicing	DOK6(NM_152721:exon6:c.738+2T>G)	.	.	exonic;splicing	ENSG00000206052;ENSG00000206052(ENST00000382713:exon6:c.738+2T>G)	unknown	UNKNOWN	0.999988247793601	0.93
18	67406342	A	C	18	69739106	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.999777897020977	0.898
18	67406342	A	G	18	69739106	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.738566924510755	0.526
18	67406342	A	T	18	69739106	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.999947493043818	0.942
18	67406343	A	C	18	69739107	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.999173841150707	0.902
18	67406343	A	G	18	69739107	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.990827123984037	0.646
18	67406343	A	T	18	69739107	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.963399749621395	0.738
18	67406344	G	A	18	69739108	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.999797573879671	0.932
18	67406344	G	C	18	69739108	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.999720301792107	0.912
18	67406344	G	T	18	69739108	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.998913021472485	0.814
18	67406345	G	A	18	69739109	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	4.8269532069081E-5	0.028
18	67406345	G	C	18	69739109	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	0.0012327954647561	0.1
18	67406345	G	T	18	69739109	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	1.91059196737592E-5	0.032
18	67406346	C	A	18	69739110	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	1.30870955723717E-4	0.002
18	67406346	C	G	18	69739110	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	1.30870955723717E-4	0.0
18	67406346	C	T	18	69739110	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	1.28166458456935E-4	0.008
18	67406347	C	A	18	69739111	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	1.3129103674446E-4	0.0
18	67406347	C	G	18	69739111	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	1.3129103674446E-4	0.002
18	67406347	C	T	18	69739111	y	n	intronic	DOK6	.	.	exonic	ENSG00000206052	unknown	UNKNOWN	2.16391512187339E-4	0.02
18	67424980	T	A	18	69757744	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.20287759884E-4	0.082
18	67424980	T	C	18	69757744	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.89327392712502E-4	0.002
18	67424980	T	G	18	69757744	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.45882670458436E-4	0.08
18	67424981	T	A	18	69757745	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00535404848260385	0.262
18	67424981	T	C	18	69757745	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00587043436759367	0.06
18	67424981	T	G	18	69757745	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00468135046475514	0.238
18	67424982	T	A	18	69757746	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00207767500169871	0.172
18	67424982	T	C	18	69757746	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	5.20344871185159E-4	0.012
18	67424982	T	G	18	69757746	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	7.46850493638002E-4	0.128
18	67424983	C	A	18	69757747	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	8.72003937216151E-5	0.008
18	67424983	C	G	18	69757747	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	8.72003937216151E-5	0.014
18	67424983	C	T	18	69757747	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.05362139471392E-5	0.008
18	67424984	T	A	18	69757748	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	5.29802455370669E-4	0.056
18	67424984	T	C	18	69757748	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.71366852997447E-4	0.004
18	67424984	T	G	18	69757748	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	4.27190585561131E-4	0.074
18	67424985	C	A	18	69757749	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	3.84596690110843E-4	0.052
18	67424985	C	G	18	69757749	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.17971199547915E-4	0.05
18	67424985	C	T	18	69757749	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	1.47406922161436E-4	0.012
18	67424986	T	A	18	69757750	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0531252416856807	0.342
18	67424986	T	C	18	69757750	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00505825385687112	0.126
18	67424986	T	G	18	69757750	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0395799534281973	0.298
18	67424987	T	A	18	69757751	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.0153191749114288	0.298
18	67424987	T	C	18	69757751	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00423776321116894	0.126
18	67424987	T	G	18	69757751	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00958445352753223	0.302
18	67424988	T	A	18	69757752	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00118404128692425	0.016
18	67424988	T	C	18	69757752	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	7.21088593189345E-4	0.016
18	67424988	T	G	18	69757752	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.00145373566961138	0.022
18	67424989	T	A	18	69757753	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	6.64055636835349E-4	0.072
18	67424989	T	C	18	69757753	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	6.95757700614548E-5	0.008
18	67424989	T	G	18	69757753	y	y	intronic	DOK6	.	.	intronic	ENSG00000206052	.	.	0.807974615045922	0.582
18	67424990	A	C	18	69757754	y	y	splicing	DOK6(NM_152721:exon7:c.739-2A>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon7:c.739-2A>C)	.	.	0.999988247793601	0.928
18	67424990	A	G	18	69757754	y	y	splicing	DOK6(NM_152721:exon7:c.739-2A>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon7:c.739-2A>G)	.	.	0.999988247793601	0.928
18	67424990	A	T	18	69757754	y	y	splicing	DOK6(NM_152721:exon7:c.739-2A>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon7:c.739-2A>T)	.	.	0.999988247793601	0.928
18	67424991	G	A	18	69757755	y	y	splicing	DOK6(NM_152721:exon7:c.739-1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon7:c.739-1G>A)	.	.	0.999986675681007	0.934
18	67424991	G	C	18	69757755	y	y	splicing	DOK6(NM_152721:exon7:c.739-1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon7:c.739-1G>C)	.	.	0.999986675681007	0.934
18	67424991	G	T	18	69757755	y	y	splicing	DOK6(NM_152721:exon7:c.739-1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon7:c.739-1G>T)	.	.	0.999986675681007	0.934
18	67424992	C	A	18	69757756	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon7:c.C739A:p.L247I;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon7:c.C739A:p.L247I;	0.950712724859781	0.752
18	67424992	C	G	18	69757756	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon7:c.C739G:p.L247V;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon7:c.C739G:p.L247V;	0.768171476389947	0.556
18	67424992	C	T	18	69757756	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon7:c.C739T:p.L247F;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon7:c.C739T:p.L247F;	0.989355871962449	0.872
18	67424993	T	A	18	69757757	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon7:c.T740A:p.L247H;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon7:c.T740A:p.L247H;	0.120820293260851	0.358
18	67424993	T	C	18	69757757	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon7:c.T740C:p.L247P;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon7:c.T740C:p.L247P;	0.20101611314034	0.354
18	67424993	T	G	18	69757757	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon7:c.T740G:p.L247R;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon7:c.T740G:p.L247R;	0.0303702272315938	0.21
18	67498441	G	A	18	69831205	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	4.68140984436469E-5	0.0
18	67498441	G	C	18	69831205	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	6.26007143607885E-5	0.008
18	67498441	G	T	18	69831205	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	6.26007143607885E-5	0.084
18	67498442	T	A	18	69831206	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	2.9057330508269E-5	0.0
18	67498442	T	C	18	69831206	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	5.28134029491298E-5	0.0
18	67498442	T	G	18	69831206	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	5.28134029491298E-5	0.0
18	67498443	C	A	18	69831207	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon5:c.426-1G>T)	.	.	0.00156186683719117	0.004
18	67498443	C	G	18	69831207	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon5:c.426-1G>C)	.	.	0.00131770435580994	0.002
18	67498443	C	T	18	69831207	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon5:c.426-1G>A)	.	.	0.00156186683719117	0.002
18	67498444	T	A	18	69831208	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon5:c.426-2A>T)	.	.	1.27947803551497E-4	0.0
18	67498444	T	C	18	69831208	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon5:c.426-2A>G)	.	.	1.09960321947569E-4	0.0
18	67498444	T	G	18	69831208	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon5:c.426-2A>C)	.	.	1.09960321947569E-4	0.0
18	67498445	G	A	18	69831209	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	2.82827935381688E-5	0.004
18	67498445	G	C	18	69831209	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.78205327723092E-5	0.008
18	67498445	G	T	18	69831209	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.78205327723092E-5	0.062
18	67498446	A	C	18	69831210	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	4.32880881212684E-4	0.044
18	67498446	A	G	18	69831210	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	4.32880881212684E-4	0.044
18	67498446	A	T	18	69831210	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	4.41863113010999E-4	0.042
18	67498447	G	A	18	69831211	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.2886448328189E-5	0.0
18	67498447	G	C	18	69831211	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.2886448328189E-5	0.008
18	67498447	G	T	18	69831211	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.2886448328189E-5	0.0
18	67498448	G	A	18	69831212	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.2886448328189E-5	0.0
18	67498448	G	C	18	69831212	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.2886448328189E-5	0.0
18	67498448	G	T	18	69831212	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.2886448328189E-5	0.0
18	67498449	G	A	18	69831213	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.26007143607885E-5	0.01
18	67498449	G	C	18	69831213	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.26007143607885E-5	0.006
18	67498449	G	T	18	69831213	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.26007143607885E-5	0.006
18	67498450	C	A	18	69831214	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.80109675654916E-5	0.008
18	67498450	C	G	18	69831214	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	5.08291490468438E-5	0.008
18	67498450	C	T	18	69831214	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.80109675654916E-5	0.0
18	67498451	A	C	18	69831215	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.45387536832266E-4	0.002
18	67498451	A	G	18	69831215	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.45387536832266E-4	0.002
18	67498451	A	T	18	69831215	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.44963993053319E-4	0.0
18	67498452	G	A	18	69831216	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	7.90960333523333E-4	0.004
18	67498452	G	C	18	69831216	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	0.00112860188305749	0.004
18	67498452	G	T	18	69831216	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.06541812691775E-4	0.004
18	67498453	A	C	18	69831217	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.26351819982407E-5	0.0
18	67498453	A	G	18	69831217	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.26351819982407E-5	0.0
18	67498453	A	T	18	69831217	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.71941710566322E-4	0.0
18	67498454	A	C	18	69831218	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.26351819982407E-5	0.002
18	67498454	A	G	18	69831218	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.26351819982407E-5	0.002
18	67498454	A	T	18	69831218	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.71941710566322E-4	0.0
18	67499974	A	C	18	69832738	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	6.19654958573966E-5	0.024
18	67499974	A	G	18	69832738	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	6.19654958573966E-5	0.024
18	67499974	A	T	18	69832738	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	9.57123356397867E-5	0.032
18	67499975	T	A	18	69832739	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	9.57123356397867E-5	0.02
18	67499975	T	C	18	69832739	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	6.19654958573966E-5	0.024
18	67499975	T	G	18	69832739	n	y	intronic	DOK6	.	.	UTR3	ENSG00000150637	.	.	6.19654958573966E-5	0.032
18	67499976	C	A	18	69832740	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon4:c.222-1G>T)	.	.	2.30852315876377E-5	0.008
18	67499976	C	G	18	69832740	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon4:c.222-1G>C)	.	.	2.30852315876377E-5	0.008
18	67499976	C	T	18	69832740	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon4:c.222-1G>A)	.	.	2.30852315876377E-5	0.008
18	67499977	T	A	18	69832741	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon4:c.222-2A>T)	.	.	2.27163650926202E-4	0.02
18	67499977	T	C	18	69832741	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon4:c.222-2A>G)	.	.	9.57123356397867E-5	0.016
18	67499977	T	G	18	69832741	n	y	intronic	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon4:c.222-2A>C)	.	.	9.57123356397867E-5	0.016
18	67499978	G	A	18	69832742	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.99153316237132E-5	0.002
18	67499978	G	C	18	69832742	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.89861551796331E-5	0.004
18	67499978	G	T	18	69832742	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.99153316237132E-5	0.002
18	67499979	A	C	18	69832743	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499979	A	G	18	69832743	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499979	A	T	18	69832743	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499980	A	C	18	69832744	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499980	A	G	18	69832744	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499980	A	T	18	69832744	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499981	A	C	18	69832745	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499981	A	G	18	69832745	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499981	A	T	18	69832745	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499982	A	C	18	69832746	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499982	A	G	18	69832746	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499982	A	T	18	69832746	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499983	A	C	18	69832747	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499983	A	G	18	69832747	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499983	A	T	18	69832747	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.022
18	67499984	A	C	18	69832748	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.99153316237132E-5	0.0
18	67499984	A	G	18	69832748	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.99153316237132E-5	0.0
18	67499984	A	T	18	69832748	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.99153316237132E-5	0.0
18	67499985	A	C	18	69832749	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.57123356397867E-5	0.018
18	67499985	A	G	18	69832749	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.57123356397867E-5	0.018
18	67499985	A	T	18	69832749	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.57123356397867E-5	0.016
18	67499986	A	C	18	69832750	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.57123356397867E-5	0.018
18	67499986	A	G	18	69832750	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.018
18	67499986	A	T	18	69832750	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.57123356397867E-5	0.016
18	67499987	A	C	18	69832751	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.018
18	67499987	A	G	18	69832751	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.19654958573966E-5	0.018
18	67499987	A	T	18	69832751	n	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.57123356397867E-5	0.016
18	67508468	C	A	18	69841232	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	4.34879344300018E-4	0.04
18	67508468	C	G	18	69841232	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.86546308608844E-4	0.018
18	67508468	C	T	18	69841232	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	8.68619842526339E-5	0.008
18	67508469	T	A	18	69841233	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	4.61388215741571E-4	0.142
18	67508469	T	C	18	69841233	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.70155226803466E-4	0.04
18	67508469	T	G	18	69841233	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	5.33952955834662E-4	0.186
18	67508470	T	A	18	69841234	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	2.19347308598838E-4	0.1
18	67508470	T	C	18	69841234	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	7.87478948937551E-5	0.002
18	67508470	T	G	18	69841234	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.67308993763333E-4	0.09
18	67508471	C	A	18	69841235	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.04327040707637E-4	0.006
18	67508471	C	G	18	69841235	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	4.87424670204963E-5	0.002
18	67508471	C	T	18	69841235	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.67833413238745E-5	0.002
18	67508472	C	A	18	69841236	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.27497495150525E-4	0.054
18	67508472	C	G	18	69841236	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.27497495150525E-4	0.054
18	67508472	C	T	18	69841236	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.08712349611801E-4	0.008
18	67508473	T	A	18	69841237	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	5.41901109822032E-5	0.03
18	67508473	T	C	18	69841237	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.75062238029385E-5	0.0
18	67508473	T	G	18	69841237	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	2.28299855744028E-5	0.044
18	67508474	C	A	18	69841238	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.81704617794525E-5	0.062
18	67508474	C	G	18	69841238	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	1.28048787007335E-4	0.056
18	67508474	C	T	18	69841238	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	3.35270524987162E-5	0.0
18	67508475	T	A	18	69841239	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.07043033365341E-5	0.066
18	67508475	T	C	18	69841239	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	9.53946317667045E-5	0.01
18	67508475	T	G	18	69841239	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	8.58145768508951E-5	0.064
18	67508476	C	A	18	69841240	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	6.34623312561247E-4	0.02
18	67508476	C	G	18	69841240	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	4.36967046314943E-4	0.014
18	67508476	C	T	18	69841240	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	8.18108441660835E-4	0.012
18	67508477	T	A	18	69841241	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	5.42967591742995E-4	0.064
18	67508477	T	C	18	69841241	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	5.18799079712841E-5	0.002
18	67508477	T	G	18	69841241	y	y	intronic	DOK6	.	.	intronic	ENSG00000150637;ENSG00000206052	.	.	0.100043080444227	0.346
18	67508478	A	C	18	69841242	y	y	splicing	DOK6(NM_152721:exon8:c.857-2A>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon8:c.857-2A>C)	.	.	0.999972155025474	0.848
18	67508478	A	G	18	69841242	y	y	splicing	DOK6(NM_152721:exon8:c.857-2A>G)	.	.	splicing	ENSG00000206052(ENST00000382713:exon8:c.857-2A>G)	.	.	0.999972155025474	0.856
18	67508478	A	T	18	69841242	y	y	splicing	DOK6(NM_152721:exon8:c.857-2A>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon8:c.857-2A>T)	.	.	0.999971317418422	0.896
18	67508479	G	A	18	69841243	y	y	splicing	DOK6(NM_152721:exon8:c.857-1G>A)	.	.	splicing	ENSG00000206052(ENST00000382713:exon8:c.857-1G>A)	.	.	0.999976475802857	0.908
18	67508479	G	C	18	69841243	y	y	splicing	DOK6(NM_152721:exon8:c.857-1G>C)	.	.	splicing	ENSG00000206052(ENST00000382713:exon8:c.857-1G>C)	.	.	0.999976475802857	0.908
18	67508479	G	T	18	69841243	y	y	splicing	DOK6(NM_152721:exon8:c.857-1G>T)	.	.	splicing	ENSG00000206052(ENST00000382713:exon8:c.857-1G>T)	.	.	0.999976475802857	0.91
18	67508480	G	A	18	69841244	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon8:c.G857A:p.G286D;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon8:c.G857A:p.G286D;	0.995397626684993	0.662
18	67508480	G	C	18	69841244	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon8:c.G857C:p.G286A;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon8:c.G857C:p.G286A;	0.499061780958142	0.486
18	67508480	G	T	18	69841244	y	y	exonic	DOK6	nonsynonymous SNV	DOK6:NM_152721:exon8:c.G857T:p.G286V;	exonic	ENSG00000206052	nonsynonymous SNV	ENSG00000206052:ENST00000382713:exon8:c.G857T:p.G286V;	0.690265149840419	0.504
18	67508481	T	A	18	69841245	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon8:c.T858A:p.G286G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon8:c.T858A:p.G286G;	4.03720723273735E-5	0.0
18	67508481	T	C	18	69841245	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon8:c.T858C:p.G286G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon8:c.T858C:p.G286G;	4.10890636738671E-5	0.042
18	67508481	T	G	18	69841245	y	y	exonic	DOK6	synonymous SNV	DOK6:NM_152721:exon8:c.T858G:p.G286G;	exonic	ENSG00000206052	synonymous SNV	ENSG00000206052:ENST00000382713:exon8:c.T858G:p.G286G;	4.36795704390568E-5	0.004
18	67509512	T	A	18	69842276	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.70337218186484E-5	0.0
18	67509512	T	C	18	69842276	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.70337218186484E-5	0.0
18	67509512	T	G	18	69842276	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.70337218186484E-5	0.0
18	67509513	G	A	18	69842277	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	6.38113264713725E-5	0.004
18	67509513	G	C	18	69842277	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	8.53292460361593E-5	0.066
18	67509513	G	T	18	69842277	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	6.38113264713725E-5	0.006
18	67509514	T	A	18	69842278	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.86075475573093E-5	0.002
18	67509514	T	C	18	69842278	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.86075475573093E-5	0.0
18	67509514	T	G	18	69842278	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.86075475573093E-5	0.0
18	67509515	C	A	18	69842279	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.23990001900786E-4	0.0
18	67509515	C	G	18	69842279	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.23990001900786E-4	0.002
18	67509515	C	T	18	69842279	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.23990001900786E-4	0.002
18	67509516	A	C	18	69842280	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.86075475573093E-5	0.0
18	67509516	A	G	18	69842280	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.86075475573093E-5	0.0
18	67509516	A	T	18	69842280	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.06520082605731E-4	0.0
18	67509517	T	A	18	69842281	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	9.40094287361931E-5	0.0
18	67509517	T	C	18	69842281	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.03493156808321E-5	0.0
18	67509517	T	G	18	69842281	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.03493156808321E-5	0.0
18	67509518	A	C	18	69842282	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.221+2T>G)	.	.	6.76375603973572E-5	0.012
18	67509518	A	G	18	69842282	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.221+2T>C)	.	.	6.76375603973572E-5	0.012
18	67509518	A	T	18	69842282	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.221+2T>A)	.	.	5.05808194911997E-5	0.012
18	67509519	C	A	18	69842283	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.221+1G>T)	.	.	9.27237026149931E-5	0.0
18	67509519	C	G	18	69842283	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.221+1G>C)	.	.	9.27237026149931E-5	0.0
18	67509519	C	T	18	69842283	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.221+1G>A)	.	.	1.02337758398172E-4	0.0
18	67509520	C	A	18	69842284	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	1.63709697066248E-5	0.0
18	67509520	C	G	18	69842284	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	1.63709697066248E-5	0.0
18	67509520	C	T	18	69842284	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	1.63709697066248E-5	0.0
18	67509521	C	A	18	69842285	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	3.43189514765741E-4	0.03
18	67509521	C	G	18	69842285	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	3.43189514765741E-4	0.03
18	67509521	C	T	18	69842285	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	4.4471649152377E-4	0.03
18	67509522	T	A	18	69842286	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	6.09332237519757E-5	0.038
18	67509522	T	C	18	69842286	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	6.09332237519757E-5	0.038
18	67509522	T	G	18	69842286	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000150637;ENSG00000206052	.	.	6.09332237519757E-5	0.038
18	67509630	A	C	18	69842394	n	y	UTR3	DOK6	.	.	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000578928:exon2:c.T111G:p.G37G;	9.54583771157E-5	0.0
18	67509630	A	G	18	69842394	n	y	UTR3	DOK6	.	.	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000578928:exon2:c.T111C:p.G37G;	9.54583771157E-5	0.0
18	67509630	A	T	18	69842394	n	y	UTR3	DOK6	.	.	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000578928:exon2:c.T111A:p.G37G;	5.25211152755068E-5	0.0
18	67509631	C	A	18	69842395	n	y	UTR3	DOK6	.	.	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon2:c.G110T:p.G37V;	7.17029124203775E-5	0.0
18	67509631	C	G	18	69842395	n	y	UTR3	DOK6	.	.	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon2:c.G110C:p.G37A;	3.26877166178878E-5	0.0
18	67509631	C	T	18	69842395	n	y	UTR3	DOK6	.	.	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon2:c.G110A:p.G37D;	3.26877166178878E-5	0.0
18	67509632	C	A	18	69842396	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.110-1G>T)	.	.	8.55472960422104E-5	0.002
18	67509632	C	G	18	69842396	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.110-1G>C)	.	.	8.55472960422104E-5	0.004
18	67509632	C	T	18	69842396	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.110-1G>A)	.	.	8.55472960422104E-5	0.002
18	67509633	T	A	18	69842397	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.110-2A>T)	.	.	6.47413882681639E-5	0.0
18	67509633	T	C	18	69842397	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.110-2A>G)	.	.	6.47413882681639E-5	0.0
18	67509633	T	G	18	69842397	n	y	UTR3	DOK6	.	.	splicing	ENSG00000150637(ENST00000578928:exon3:c.110-2A>C)	.	.	6.47413882681639E-5	0.0
18	67509634	T	A	18	69842398	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.10275622159801E-5	0.0
18	67509634	T	C	18	69842398	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.10275622159801E-5	0.0
18	67509634	T	G	18	69842398	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.10275622159801E-5	0.0
18	67509635	G	A	18	69842399	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	2.39429174022201E-5	0.002
18	67509635	G	C	18	69842399	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	2.39429174022201E-5	0.002
18	67509635	G	T	18	69842399	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	2.39429174022201E-5	0.002
18	67509636	A	C	18	69842400	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	2.44859452589513E-4	0.08
18	67509636	A	G	18	69842400	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	2.44859452589513E-4	0.08
18	67509636	A	T	18	69842400	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.95969213645718E-4	0.08
18	67509637	G	A	18	69842401	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	3.23670744562471E-4	0.002
18	67509637	G	C	18	69842401	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	3.23670744562471E-4	0.004
18	67509637	G	T	18	69842401	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	3.23670744562471E-4	0.002
18	67509638	A	C	18	69842402	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	3.22319008290309E-5	0.0
18	67509638	A	G	18	69842402	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	3.22319008290309E-5	0.0
18	67509638	A	T	18	69842402	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	4.97864243205666E-5	0.0
18	67509639	G	A	18	69842403	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	7.04278140930798E-5	0.01
18	67509639	G	C	18	69842403	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	6.38113264713725E-5	0.01
18	67509639	G	T	18	69842403	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	6.38113264713725E-5	0.01
18	67509640	A	C	18	69842404	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.06624260319159E-4	0.002
18	67509640	A	G	18	69842404	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.06624260319159E-4	0.002
18	67509640	A	T	18	69842404	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.06624260319159E-4	0.004
18	67509641	A	C	18	69842405	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.26740169411078E-5	0.0
18	67509641	A	G	18	69842405	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	5.26740169411078E-5	0.0
18	67509641	A	T	18	69842405	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	7.2369051987551E-5	0.0
18	67509642	A	C	18	69842406	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	7.76074896990115E-5	0.002
18	67509642	A	G	18	69842406	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	7.76074896990115E-5	0.002
18	67509642	A	T	18	69842406	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.03743324618895E-4	0.002
18	67509643	A	C	18	69842407	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.31315765408385E-4	0.004
18	67509643	A	G	18	69842407	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.31315765408385E-4	0.004
18	67509643	A	T	18	69842407	n	y	UTR3	DOK6	.	.	UTR3	ENSG00000206052	.	.	1.18780094847006E-4	0.004
18	67531674	G	A	18	69864438	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon7:c.C887T:p.A296V;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon7:c.C422T:p.A141V;ENSG00000150637:ENST00000280200:exon7:c.C887T:p.A296V;ENSG00000150637:ENST00000581982:exon5:c.C422T:p.A141V;ENSG00000150637:ENST00000582621:exon6:c.C887T:p.A296V;	3.25288523134638E-5	0.0
18	67531674	G	C	18	69864438	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon7:c.C887G:p.A296G;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon7:c.C422G:p.A141G;ENSG00000150637:ENST00000280200:exon7:c.C887G:p.A296G;ENSG00000150637:ENST00000581982:exon5:c.C422G:p.A141G;ENSG00000150637:ENST00000582621:exon6:c.C887G:p.A296G;	6.1568703876303E-5	0.004
18	67531674	G	T	18	69864438	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon7:c.C887A:p.A296E;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon7:c.C422A:p.A141E;ENSG00000150637:ENST00000280200:exon7:c.C887A:p.A296E;ENSG00000150637:ENST00000581982:exon5:c.C422A:p.A141E;ENSG00000150637:ENST00000582621:exon6:c.C887A:p.A296E;	3.10955658045638E-5	0.012
18	67531675	C	A	18	69864439	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon7:c.G886T:p.A296S;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon7:c.G421T:p.A141S;ENSG00000150637:ENST00000280200:exon7:c.G886T:p.A296S;ENSG00000150637:ENST00000581982:exon5:c.G421T:p.A141S;ENSG00000150637:ENST00000582621:exon6:c.G886T:p.A296S;	0.0272761875507607	0.368
18	67531675	C	G	18	69864439	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon7:c.G886C:p.A296P;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon7:c.G421C:p.A141P;ENSG00000150637:ENST00000280200:exon7:c.G886C:p.A296P;ENSG00000150637:ENST00000581982:exon5:c.G421C:p.A141P;ENSG00000150637:ENST00000582621:exon6:c.G886C:p.A296P;	0.00441598835973128	0.236
18	67531675	C	T	18	69864439	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon7:c.G886A:p.A296T;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon7:c.G421A:p.A141T;ENSG00000150637:ENST00000280200:exon7:c.G886A:p.A296T;ENSG00000150637:ENST00000581982:exon5:c.G421A:p.A141T;ENSG00000150637:ENST00000582621:exon6:c.G886A:p.A296T;	8.7385772637331E-4	0.136
18	67531676	C	A	18	69864440	y	y	splicing	CD226(NM_006566:exon8:c.886-1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon8:c.886-1G>T;ENST00000581982:exon6:c.421-1G>T;ENST00000577287:exon8:c.421-1G>T;ENST00000582621:exon7:c.886-1G>T)	.	.	0.999971412033808	0.872
18	67531676	C	G	18	69864440	y	y	splicing	CD226(NM_006566:exon8:c.886-1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon8:c.886-1G>C;ENST00000581982:exon6:c.421-1G>C;ENST00000577287:exon8:c.421-1G>C;ENST00000582621:exon7:c.886-1G>C)	.	.	0.999971412033808	0.864
18	67531676	C	T	18	69864440	y	y	splicing	CD226(NM_006566:exon8:c.886-1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon8:c.886-1G>A;ENST00000581982:exon6:c.421-1G>A;ENST00000577287:exon8:c.421-1G>A;ENST00000582621:exon7:c.886-1G>A)	.	.	0.999971412033808	0.868
18	67531677	T	A	18	69864441	y	y	splicing	CD226(NM_006566:exon8:c.886-2A>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon8:c.886-2A>T;ENST00000581982:exon6:c.421-2A>T;ENST00000577287:exon8:c.421-2A>T;ENST00000582621:exon7:c.886-2A>T)	.	.	0.999969255906173	0.862
18	67531677	T	C	18	69864441	y	y	splicing	CD226(NM_006566:exon8:c.886-2A>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon8:c.886-2A>G;ENST00000581982:exon6:c.421-2A>G;ENST00000577287:exon8:c.421-2A>G;ENST00000582621:exon7:c.886-2A>G)	.	.	0.999969255906173	0.85
18	67531677	T	G	18	69864441	y	y	splicing	CD226(NM_006566:exon8:c.886-2A>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon8:c.886-2A>C;ENST00000581982:exon6:c.421-2A>C;ENST00000577287:exon8:c.421-2A>C;ENST00000582621:exon7:c.886-2A>C)	.	.	0.999969255906173	0.85
18	67531678	A	C	18	69864442	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.414007744202703	0.422
18	67531678	A	G	18	69864442	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.94568821445317E-5	0.004
18	67531678	A	T	18	69864442	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00123668042357516	0.06
18	67531679	G	A	18	69864443	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.97209263393966E-4	0.012
18	67531679	G	C	18	69864443	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.18644218407317E-4	0.04
18	67531679	G	T	18	69864443	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.07948838821441E-4	0.018
18	67531680	A	C	18	69864444	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0354746813077001	0.378
18	67531680	A	G	18	69864444	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00101362012057143	0.018
18	67531680	A	T	18	69864444	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0140308846337031	0.358
18	67531681	A	C	18	69864445	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0691535603408187	0.374
18	67531681	A	G	18	69864445	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.5005657718512E-4	0.02
18	67531681	A	T	18	69864445	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0508732880231551	0.372
18	67531682	A	C	18	69864446	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0796269523862586	0.332
18	67531682	A	G	18	69864446	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00103418711599371	0.068
18	67531682	A	T	18	69864446	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.229669858519979	0.4
18	67531683	G	A	18	69864447	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.44690870386066E-5	0.0
18	67531683	G	C	18	69864447	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.11902074210327E-5	0.028
18	67531683	G	T	18	69864447	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.57519687147565E-5	0.026
18	67531684	A	C	18	69864448	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0189707201482807	0.362
18	67531684	A	G	18	69864448	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.7555542715041E-4	0.024
18	67531684	A	T	18	69864448	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0121628371851803	0.33
18	67531685	C	A	18	69864449	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.92049511860135E-5	0.038
18	67531685	C	G	18	69864449	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.43690827427364E-5	0.114
18	67531685	C	T	18	69864449	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.83037910297748E-5	0.016
18	67531686	A	C	18	69864450	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0779358698555449	0.386
18	67531686	A	G	18	69864450	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0228096353690412	0.18
18	67531686	A	T	18	69864450	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999677381272171	0.864
18	67531687	A	C	18	69864451	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.57031933825919E-4	0.252
18	67531687	A	G	18	69864451	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.43259442562567E-5	0.002
18	67531687	A	T	18	69864451	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.92368512722407E-4	0.29
18	67534585	A	C	18	69867349	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.66982619474429E-5	0.004
18	67534585	A	G	18	69867349	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.24871582906311E-5	0.004
18	67534585	A	T	18	69867349	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.66982619474429E-5	0.002
18	67534586	A	C	18	69867350	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.40063699135737E-5	0.0
18	67534586	A	G	18	69867350	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.79522811734558E-5	0.0
18	67534586	A	T	18	69867350	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.79522811734558E-5	0.0
18	67534587	A	C	18	69867351	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0031693256307135	0.228
18	67534587	A	G	18	69867351	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0157647934714225	0.32
18	67534587	A	T	18	69867351	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0119467722005677	0.34
18	67534588	C	A	18	69867352	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.615791444524288	0.454
18	67534588	C	G	18	69867352	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.474974359066254	0.43
18	67534588	C	T	18	69867352	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.513662292727669	0.488
18	67534589	T	A	18	69867353	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.294940958567345	0.396
18	67534589	T	C	18	69867353	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.247722236210859	0.412
18	67534589	T	G	18	69867353	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0687598682264262	0.352
18	67534590	T	A	18	69867354	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.118926283214778	0.502
18	67534590	T	C	18	69867354	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.11366910349203E-4	0.02
18	67534590	T	G	18	69867354	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.135052440643159	0.492
18	67534591	A	C	18	69867355	y	y	splicing	CD226(NM_006566:exon7:c.885+2T>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.885+2T>G;ENST00000581982:exon5:c.420+2T>G;ENST00000577287:exon7:c.420+2T>G;ENST00000582621:exon6:c.885+2T>G)	.	.	0.999962958601995	0.808
18	67534591	A	G	18	69867355	y	y	splicing	CD226(NM_006566:exon7:c.885+2T>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.885+2T>C;ENST00000581982:exon5:c.420+2T>C;ENST00000577287:exon7:c.420+2T>C;ENST00000582621:exon6:c.885+2T>C)	.	.	0.925932053524492	0.62
18	67534591	A	T	18	69867355	y	y	splicing	CD226(NM_006566:exon7:c.885+2T>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.885+2T>A;ENST00000581982:exon5:c.420+2T>A;ENST00000577287:exon7:c.420+2T>A;ENST00000582621:exon6:c.885+2T>A)	.	.	0.999962958601995	0.846
18	67534592	C	A	18	69867356	y	y	splicing	CD226(NM_006566:exon7:c.885+1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.885+1G>T;ENST00000581982:exon5:c.420+1G>T;ENST00000577287:exon7:c.420+1G>T;ENST00000582621:exon6:c.885+1G>T)	.	.	0.999969620222061	0.816
18	67534592	C	G	18	69867356	y	y	splicing	CD226(NM_006566:exon7:c.885+1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.885+1G>C;ENST00000581982:exon5:c.420+1G>C;ENST00000577287:exon7:c.420+1G>C;ENST00000582621:exon6:c.885+1G>C)	.	.	0.999969620222061	0.82
18	67534592	C	T	18	69867356	y	y	splicing	CD226(NM_006566:exon7:c.885+1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.885+1G>A;ENST00000581982:exon5:c.420+1G>A;ENST00000577287:exon7:c.420+1G>A;ENST00000582621:exon6:c.885+1G>A)	.	.	0.999969620222061	0.862
18	67534593	C	A	18	69867357	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.G885T:p.K295N;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.G420T:p.K140N;ENSG00000150637:ENST00000280200:exon6:c.G885T:p.K295N;ENSG00000150637:ENST00000581982:exon4:c.G420T:p.K140N;ENSG00000150637:ENST00000582621:exon5:c.G885T:p.K295N;	0.852184184181851	0.486
18	67534593	C	G	18	69867357	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.G885C:p.K295N;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.G420C:p.K140N;ENSG00000150637:ENST00000280200:exon6:c.G885C:p.K295N;ENSG00000150637:ENST00000581982:exon4:c.G420C:p.K140N;ENSG00000150637:ENST00000582621:exon5:c.G885C:p.K295N;	0.932281408003669	0.49
18	67534593	C	T	18	69867357	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon6:c.G885A:p.K295K;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.G420A:p.K140K;ENSG00000150637:ENST00000280200:exon6:c.G885A:p.K295K;ENSG00000150637:ENST00000581982:exon4:c.G420A:p.K140K;ENSG00000150637:ENST00000582621:exon5:c.G885A:p.K295K;	0.663983329661108	0.29
18	67534594	T	A	18	69867358	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A884T:p.K295M;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A419T:p.K140M;ENSG00000150637:ENST00000280200:exon6:c.A884T:p.K295M;ENSG00000150637:ENST00000581982:exon4:c.A419T:p.K140M;ENSG00000150637:ENST00000582621:exon5:c.A884T:p.K295M;	0.0989717809462348	0.454
18	67534594	T	C	18	69867358	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A884G:p.K295R;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A419G:p.K140R;ENSG00000150637:ENST00000280200:exon6:c.A884G:p.K295R;ENSG00000150637:ENST00000581982:exon4:c.A419G:p.K140R;ENSG00000150637:ENST00000582621:exon5:c.A884G:p.K295R;	0.0411714209640835	0.184
18	67534594	T	G	18	69867358	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A884C:p.K295T;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A419C:p.K140T;ENSG00000150637:ENST00000280200:exon6:c.A884C:p.K295T;ENSG00000150637:ENST00000581982:exon4:c.A419C:p.K140T;ENSG00000150637:ENST00000582621:exon5:c.A884C:p.K295T;	0.0309323577613086	0.368
18	67534595	T	A	18	69867359	y	y	exonic	CD226	stopgain SNV	CD226:NM_006566:exon6:c.A883T:p.K295X;	exonic	ENSG00000150637	stopgain SNV	ENSG00000150637:ENST00000577287:exon6:c.A418T:p.K140X;ENSG00000150637:ENST00000280200:exon6:c.A883T:p.K295X;ENSG00000150637:ENST00000581982:exon4:c.A418T:p.K140X;ENSG00000150637:ENST00000582621:exon5:c.A883T:p.K295X;	0.978857080792598	0.572
18	67534595	T	C	18	69867359	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A883G:p.K295E;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A418G:p.K140E;ENSG00000150637:ENST00000280200:exon6:c.A883G:p.K295E;ENSG00000150637:ENST00000581982:exon4:c.A418G:p.K140E;ENSG00000150637:ENST00000582621:exon5:c.A883G:p.K295E;	0.00835584917961085	0.074
18	67534595	T	G	18	69867359	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A883C:p.K295Q;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A418C:p.K140Q;ENSG00000150637:ENST00000280200:exon6:c.A883C:p.K295Q;ENSG00000150637:ENST00000581982:exon4:c.A418C:p.K140Q;ENSG00000150637:ENST00000582621:exon5:c.A883C:p.K295Q;	0.00257125791684237	0.026
18	67534646	T	A	18	69867410	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A832T:p.R278W;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A367T:p.R123W;ENSG00000150637:ENST00000280200:exon6:c.A832T:p.R278W;ENSG00000150637:ENST00000581982:exon4:c.A367T:p.R123W;ENSG00000150637:ENST00000582621:exon5:c.A832T:p.R278W;	2.62150949017845E-4	0.152
18	67534646	T	C	18	69867410	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A832G:p.R278G;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A367G:p.R123G;ENSG00000150637:ENST00000280200:exon6:c.A832G:p.R278G;ENSG00000150637:ENST00000581982:exon4:c.A367G:p.R123G;ENSG00000150637:ENST00000582621:exon5:c.A832G:p.R278G;	2.52352208016996E-4	0.034
18	67534646	T	G	18	69867410	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon6:c.A832C:p.R278R;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A367C:p.R123R;ENSG00000150637:ENST00000280200:exon6:c.A832C:p.R278R;ENSG00000150637:ENST00000581982:exon4:c.A367C:p.R123R;ENSG00000150637:ENST00000582621:exon5:c.A832C:p.R278R;	4.37057136924876E-5	0.018
18	67534647	T	A	18	69867411	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A831T:p.R277S;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A366T:p.R122S;ENSG00000150637:ENST00000280200:exon6:c.A831T:p.R277S;ENSG00000150637:ENST00000581982:exon4:c.A366T:p.R122S;ENSG00000150637:ENST00000582621:exon5:c.A831T:p.R277S;	0.00161017475055673	0.256
18	67534647	T	C	18	69867411	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon6:c.A831G:p.R277R;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A366G:p.R122R;ENSG00000150637:ENST00000280200:exon6:c.A831G:p.R277R;ENSG00000150637:ENST00000581982:exon4:c.A366G:p.R122R;ENSG00000150637:ENST00000582621:exon5:c.A831G:p.R277R;	1.02131983906674E-4	0.018
18	67534647	T	G	18	69867411	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon6:c.A831C:p.R277S;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon6:c.A366C:p.R122S;ENSG00000150637:ENST00000280200:exon6:c.A831C:p.R277S;ENSG00000150637:ENST00000581982:exon4:c.A366C:p.R122S;ENSG00000150637:ENST00000582621:exon5:c.A831C:p.R277S;	0.00420589934272324	0.222
18	67534648	C	A	18	69867412	y	y	splicing	CD226(NM_006566:exon7:c.831-1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.831-1G>T;ENST00000581982:exon5:c.366-1G>T;ENST00000577287:exon7:c.366-1G>T;ENST00000582621:exon6:c.831-1G>T)	.	.	0.999962230356656	0.924
18	67534648	C	G	18	69867412	y	y	splicing	CD226(NM_006566:exon7:c.831-1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.831-1G>C;ENST00000581982:exon5:c.366-1G>C;ENST00000577287:exon7:c.366-1G>C;ENST00000582621:exon6:c.831-1G>C)	.	.	0.999962230356656	0.93
18	67534648	C	T	18	69867412	y	y	splicing	CD226(NM_006566:exon7:c.831-1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.831-1G>A;ENST00000581982:exon5:c.366-1G>A;ENST00000577287:exon7:c.366-1G>A;ENST00000582621:exon6:c.831-1G>A)	.	.	0.999962230356656	0.928
18	67534649	T	A	18	69867413	y	y	splicing	CD226(NM_006566:exon7:c.831-2A>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.831-2A>T;ENST00000581982:exon5:c.366-2A>T;ENST00000577287:exon7:c.366-2A>T;ENST00000582621:exon6:c.831-2A>T)	.	.	0.999955202219928	0.936
18	67534649	T	C	18	69867413	y	y	splicing	CD226(NM_006566:exon7:c.831-2A>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.831-2A>G;ENST00000581982:exon5:c.366-2A>G;ENST00000577287:exon7:c.366-2A>G;ENST00000582621:exon6:c.831-2A>G)	.	.	0.999955202219928	0.938
18	67534649	T	G	18	69867413	y	y	splicing	CD226(NM_006566:exon7:c.831-2A>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon7:c.831-2A>C;ENST00000581982:exon5:c.366-2A>C;ENST00000577287:exon7:c.366-2A>C;ENST00000582621:exon6:c.831-2A>C)	.	.	0.999955202219928	0.936
18	67534650	G	A	18	69867414	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	9.40925583194368E-4	0.238
18	67534650	G	C	18	69867414	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.986351523924334	0.728
18	67534650	G	T	18	69867414	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.984842750837555	0.76
18	67534651	G	A	18	69867415	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.73887117333287E-5	0.03
18	67534651	G	C	18	69867415	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.0125841696486E-5	0.056
18	67534651	G	T	18	69867415	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.39520704161078E-5	0.034
18	67534652	A	C	18	69867416	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.901691242207677	0.638
18	67534652	A	G	18	69867416	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.194975935336097	0.238
18	67534652	A	T	18	69867416	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.953125769326101	0.674
18	67534653	A	C	18	69867417	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999937480325602	0.972
18	67534653	A	G	18	69867417	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.26440329258275E-4	0.07
18	67534653	A	T	18	69867417	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.991106262157231	0.758
18	67534654	T	A	18	69867418	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.71869413685155E-5	0.0
18	67534654	T	C	18	69867418	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.65333994851471E-4	0.026
18	67534654	T	G	18	69867418	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.92805499348865E-5	0.0
18	67534655	G	A	18	69867419	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	9.68577420838065E-5	0.042
18	67534655	G	C	18	69867419	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0915301209320609	0.18
18	67534655	G	T	18	69867419	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00334419657893743	0.162
18	67534656	C	A	18	69867420	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.21970943978058E-4	0.076
18	67534656	C	G	18	69867420	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.63777962767485E-4	0.11
18	67534656	C	T	18	69867420	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.23265610012115E-4	0.072
18	67534657	A	C	18	69867421	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999952846363913	0.962
18	67534657	A	G	18	69867421	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.090508819686588	0.206
18	67534657	A	T	18	69867421	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999966270597858	0.97
18	67534658	T	A	18	69867422	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.59354866675851E-4	0.164
18	67534658	T	C	18	69867422	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.45247491817162E-4	0.054
18	67534658	T	G	18	69867422	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.38802895284725E-4	0.066
18	67534659	A	C	18	69867423	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999870273171941	0.978
18	67534659	A	G	18	69867423	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.36319249286369E-4	0.066
18	67534659	A	T	18	69867423	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.150293352863853	0.54
18	67540372	C	A	18	69873136	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.23990001900786E-4	0.0
18	67540372	C	G	18	69873136	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.00319698616158E-4	0.004
18	67540372	C	T	18	69873136	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.23990001900786E-4	0.0
18	67540373	T	A	18	69873137	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.92709641366711E-5	0.0
18	67540373	T	C	18	69873137	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.78596454976996E-5	0.0
18	67540373	T	G	18	69873137	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.65072477306188E-5	0.0
18	67540374	A	C	18	69873138	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.85058767766645E-4	0.142
18	67540374	A	G	18	69873138	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0044915494651694	0.252
18	67540374	A	T	18	69873138	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00691290239794764	0.166
18	67540375	C	A	18	69873139	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.998731434090449	0.73
18	67540375	C	G	18	69873139	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.994870413679233	0.762
18	67540375	C	T	18	69873139	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.983716617252624	0.726
18	67540376	T	A	18	69873140	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.858063494845936	0.498
18	67540376	T	C	18	69873140	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.525476992188964	0.38
18	67540376	T	G	18	69873140	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.359047121650878	0.412
18	67540377	C	A	18	69873141	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00730446608141258	0.214
18	67540377	C	G	18	69873141	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0043617030431172	0.152
18	67540377	C	T	18	69873141	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.40466882551175E-5	0.0
18	67540378	A	C	18	69873142	y	y	splicing	CD226(NM_006566:exon6:c.830+2T>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.830+2T>G;ENST00000581982:exon4:c.365+2T>G;ENST00000577287:exon6:c.365+2T>G;ENST00000582621:exon5:c.830+2T>G)	.	.	0.999980255680118	0.744
18	67540378	A	G	18	69873142	y	y	splicing	CD226(NM_006566:exon6:c.830+2T>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.830+2T>C;ENST00000581982:exon4:c.365+2T>C;ENST00000577287:exon6:c.365+2T>C;ENST00000582621:exon5:c.830+2T>C)	.	.	0.999010771860494	0.642
18	67540378	A	T	18	69873142	y	y	splicing	CD226(NM_006566:exon6:c.830+2T>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.830+2T>A;ENST00000581982:exon4:c.365+2T>A;ENST00000577287:exon6:c.365+2T>A;ENST00000582621:exon5:c.830+2T>A)	.	.	0.999980255680118	0.778
18	67540379	C	A	18	69873143	y	y	splicing	CD226(NM_006566:exon6:c.830+1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.830+1G>T;ENST00000581982:exon4:c.365+1G>T;ENST00000577287:exon6:c.365+1G>T;ENST00000582621:exon5:c.830+1G>T)	.	.	0.999977614472875	0.756
18	67540379	C	G	18	69873143	y	y	splicing	CD226(NM_006566:exon6:c.830+1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.830+1G>C;ENST00000581982:exon4:c.365+1G>C;ENST00000577287:exon6:c.365+1G>C;ENST00000582621:exon5:c.830+1G>C)	.	.	0.999982312740861	0.762
18	67540379	C	T	18	69873143	y	y	splicing	CD226(NM_006566:exon6:c.830+1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.830+1G>A;ENST00000581982:exon4:c.365+1G>A;ENST00000577287:exon6:c.365+1G>A;ENST00000582621:exon5:c.830+1G>A)	.	.	0.999977614472875	0.752
18	67540380	C	A	18	69873144	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.G830T:p.R277I;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon5:c.G365T:p.R122I;ENSG00000150637:ENST00000280200:exon5:c.G830T:p.R277I;ENSG00000150637:ENST00000581982:exon3:c.G365T:p.R122I;ENSG00000150637:ENST00000582621:exon4:c.G830T:p.R277I;	0.981680132346578	0.712
18	67540380	C	G	18	69873144	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.G830C:p.R277T;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon5:c.G365C:p.R122T;ENSG00000150637:ENST00000280200:exon5:c.G830C:p.R277T;ENSG00000150637:ENST00000581982:exon3:c.G365C:p.R122T;ENSG00000150637:ENST00000582621:exon4:c.G830C:p.R277T;	0.961909326167325	0.616
18	67540380	C	T	18	69873144	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.G830A:p.R277K;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon5:c.G365A:p.R122K;ENSG00000150637:ENST00000280200:exon5:c.G830A:p.R277K;ENSG00000150637:ENST00000581982:exon3:c.G365A:p.R122K;ENSG00000150637:ENST00000582621:exon4:c.G830A:p.R277K;	0.978721403790712	0.692
18	67540381	T	A	18	69873145	y	y	exonic	CD226	stopgain SNV	CD226:NM_006566:exon5:c.A829T:p.R277X;	exonic	ENSG00000150637	stopgain SNV	ENSG00000150637:ENST00000577287:exon5:c.A364T:p.R122X;ENSG00000150637:ENST00000280200:exon5:c.A829T:p.R277X;ENSG00000150637:ENST00000581982:exon3:c.A364T:p.R122X;ENSG00000150637:ENST00000582621:exon4:c.A829T:p.R277X;	0.0744007444366535	0.424
18	67540381	T	C	18	69873145	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.A829G:p.R277G;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000577287:exon5:c.A364G:p.R122G;ENSG00000150637:ENST00000280200:exon5:c.A829G:p.R277G;ENSG00000150637:ENST00000581982:exon3:c.A364G:p.R122G;ENSG00000150637:ENST00000582621:exon4:c.A829G:p.R277G;	0.109232129617605	0.244
18	67540381	T	G	18	69873145	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon5:c.A829C:p.R277R;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000577287:exon5:c.A364C:p.R122R;ENSG00000150637:ENST00000280200:exon5:c.A829C:p.R277R;ENSG00000150637:ENST00000581982:exon3:c.A364C:p.R122R;ENSG00000150637:ENST00000582621:exon4:c.A829C:p.R277R;	0.0143557592418521	0.342
18	67540382	G	A	18	69873146	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon5:c.C828T:p.N276N;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.C828T:p.N276N;ENSG00000150637:ENST00000577287:exon5:c.C363T:p.N121N;ENSG00000150637:ENST00000280200:exon5:c.C828T:p.N276N;ENSG00000150637:ENST00000581982:exon3:c.C363T:p.N121N;ENSG00000150637:ENST00000582621:exon4:c.C828T:p.N276N;	0.00113866211354013	0.21
18	67540382	G	C	18	69873146	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.C828G:p.N276K;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.C828G:p.N276K;ENSG00000150637:ENST00000577287:exon5:c.C363G:p.N121K;ENSG00000150637:ENST00000280200:exon5:c.C828G:p.N276K;ENSG00000150637:ENST00000581982:exon3:c.C363G:p.N121K;ENSG00000150637:ENST00000582621:exon4:c.C828G:p.N276K;	9.08461844201874E-5	0.01
18	67540382	G	T	18	69873146	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.C828A:p.N276K;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.C828A:p.N276K;ENSG00000150637:ENST00000577287:exon5:c.C363A:p.N121K;ENSG00000150637:ENST00000280200:exon5:c.C828A:p.N276K;ENSG00000150637:ENST00000581982:exon3:c.C363A:p.N121K;ENSG00000150637:ENST00000582621:exon4:c.C828A:p.N276K;	1.02949840921439E-4	0.01
18	67540481	A	C	18	69873245	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon5:c.T729G:p.G243G;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.T729G:p.G243G;ENSG00000150637:ENST00000577287:exon5:c.T264G:p.G88G;ENSG00000150637:ENST00000280200:exon5:c.T729G:p.G243G;ENSG00000150637:ENST00000581982:exon3:c.T264G:p.G88G;ENSG00000150637:ENST00000582621:exon4:c.T729G:p.G243G;	3.12407440292297E-4	0.044
18	67540481	A	G	18	69873245	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon5:c.T729C:p.G243G;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.T729C:p.G243G;ENSG00000150637:ENST00000577287:exon5:c.T264C:p.G88G;ENSG00000150637:ENST00000280200:exon5:c.T729C:p.G243G;ENSG00000150637:ENST00000581982:exon3:c.T264C:p.G88G;ENSG00000150637:ENST00000582621:exon4:c.T729C:p.G243G;	3.23999411562796E-4	0.052
18	67540481	A	T	18	69873245	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon5:c.T729A:p.G243G;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.T729A:p.G243G;ENSG00000150637:ENST00000577287:exon5:c.T264A:p.G88G;ENSG00000150637:ENST00000280200:exon5:c.T729A:p.G243G;ENSG00000150637:ENST00000581982:exon3:c.T264A:p.G88G;ENSG00000150637:ENST00000582621:exon4:c.T729A:p.G243G;	3.12407440292297E-4	0.058
18	67540482	C	A	18	69873246	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.G728T:p.G243V;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.G728T:p.G243V;ENSG00000150637:ENST00000577287:exon5:c.G263T:p.G88V;ENSG00000150637:ENST00000280200:exon5:c.G728T:p.G243V;ENSG00000150637:ENST00000581982:exon3:c.G263T:p.G88V;ENSG00000150637:ENST00000582621:exon4:c.G728T:p.G243V;	0.132225758671465	0.568
18	67540482	C	G	18	69873246	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.G728C:p.G243A;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.G728C:p.G243A;ENSG00000150637:ENST00000577287:exon5:c.G263C:p.G88A;ENSG00000150637:ENST00000280200:exon5:c.G728C:p.G243A;ENSG00000150637:ENST00000581982:exon3:c.G263C:p.G88A;ENSG00000150637:ENST00000582621:exon4:c.G728C:p.G243A;	0.042955630198922	0.464
18	67540482	C	T	18	69873246	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon5:c.G728A:p.G243D;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000579496:exon5:c.G728A:p.G243D;ENSG00000150637:ENST00000577287:exon5:c.G263A:p.G88D;ENSG00000150637:ENST00000280200:exon5:c.G728A:p.G243D;ENSG00000150637:ENST00000581982:exon3:c.G263A:p.G88D;ENSG00000150637:ENST00000582621:exon4:c.G728A:p.G243D;	0.00900301988252933	0.172
18	67540483	C	A	18	69873247	y	y	splicing	CD226(NM_006566:exon6:c.728-1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.728-1G>T;ENST00000581982:exon4:c.263-1G>T;ENST00000577287:exon6:c.263-1G>T;ENST00000582621:exon5:c.728-1G>T;ENST00000579496:exon6:c.728-1G>T)	.	.	0.999952286258862	0.856
18	67540483	C	G	18	69873247	y	y	splicing	CD226(NM_006566:exon6:c.728-1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.728-1G>C;ENST00000581982:exon4:c.263-1G>C;ENST00000577287:exon6:c.263-1G>C;ENST00000582621:exon5:c.728-1G>C;ENST00000579496:exon6:c.728-1G>C)	.	.	0.99995299556238	0.854
18	67540483	C	T	18	69873247	y	y	splicing	CD226(NM_006566:exon6:c.728-1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.728-1G>A;ENST00000581982:exon4:c.263-1G>A;ENST00000577287:exon6:c.263-1G>A;ENST00000582621:exon5:c.728-1G>A;ENST00000579496:exon6:c.728-1G>A)	.	.	0.999952286258862	0.868
18	67540484	T	A	18	69873248	y	y	splicing	CD226(NM_006566:exon6:c.728-2A>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.728-2A>T;ENST00000581982:exon4:c.263-2A>T;ENST00000577287:exon6:c.263-2A>T;ENST00000582621:exon5:c.728-2A>T;ENST00000579496:exon6:c.728-2A>T)	.	.	0.999972155025474	0.86
18	67540484	T	C	18	69873248	y	y	splicing	CD226(NM_006566:exon6:c.728-2A>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.728-2A>G;ENST00000581982:exon4:c.263-2A>G;ENST00000577287:exon6:c.263-2A>G;ENST00000582621:exon5:c.728-2A>G;ENST00000579496:exon6:c.728-2A>G)	.	.	0.999969255906173	0.858
18	67540484	T	G	18	69873248	y	y	splicing	CD226(NM_006566:exon6:c.728-2A>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon6:c.728-2A>C;ENST00000581982:exon4:c.263-2A>C;ENST00000577287:exon6:c.263-2A>C;ENST00000582621:exon5:c.728-2A>C;ENST00000579496:exon6:c.728-2A>C)	.	.	0.999969255906173	0.862
18	67540485	A	C	18	69873249	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.994856046213041	0.642
18	67540485	A	G	18	69873249	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.1069394714979E-4	0.03
18	67540485	A	T	18	69873249	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0324845215550547	0.228
18	67540486	G	A	18	69873250	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.53693184925092E-5	0.004
18	67540486	G	C	18	69873250	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.7412565114042E-5	0.0
18	67540486	G	T	18	69873250	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.53693184925092E-5	0.0
18	67540487	G	A	18	69873251	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.26877831082127E-5	0.002
18	67540487	G	C	18	69873251	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.71825617352962E-4	0.024
18	67540487	G	T	18	69873251	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.77784797503086E-4	0.026
18	67540488	A	C	18	69873252	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00238386525952433	0.212
18	67540488	A	G	18	69873252	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.39449296619518E-4	0.042
18	67540488	A	T	18	69873252	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00103291536473224	0.156
18	67540489	G	A	18	69873253	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.95731438104226E-4	0.03
18	67540489	G	C	18	69873253	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00159111398519584	0.184
18	67540489	G	T	18	69873253	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00105596217487373	0.2
18	67540490	A	C	18	69873254	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.06174923465671E-4	0.042
18	67540490	A	G	18	69873254	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.23074070118918E-5	0.01
18	67540490	A	T	18	69873254	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.8929035165726E-4	0.054
18	67540491	G	A	18	69873255	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.56825818023161E-6	0.0
18	67540491	G	C	18	69873255	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.8309774719338E-5	0.008
18	67540491	G	T	18	69873255	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.31720041890312E-5	0.006
18	67540492	A	C	18	69873256	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.41015740526688E-4	0.09
18	67540492	A	G	18	69873256	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.52820538245477E-4	0.004
18	67540492	A	T	18	69873256	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.70922630980687E-4	0.086
18	67540493	A	C	18	69873257	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.18679520557071E-4	0.09
18	67540493	A	G	18	69873257	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.94677820944059E-5	0.002
18	67540493	A	T	18	69873257	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.55130153895961E-5	0.052
18	67540494	A	C	18	69873258	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.80052097787991E-4	0.168
18	67540494	A	G	18	69873258	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.47166420214142E-4	0.016
18	67540494	A	T	18	69873258	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.75100322842143E-4	0.132
18	67562929	T	A	18	69895693	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.0339478167547E-5	0.0
18	67562929	T	C	18	69895693	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.08902957158611E-5	0.006
18	67562929	T	G	18	69895693	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.42185310400556E-5	0.0
18	67562930	C	A	18	69895694	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.74108293950862E-5	0.024
18	67562930	C	G	18	69895694	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	9.53929084429736E-6	0.0
18	67562930	C	T	18	69895694	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.47348756796826E-5	0.0
18	67562931	A	C	18	69895695	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0521761823000482	0.428
18	67562931	A	G	18	69895695	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0649966230971447	0.398
18	67562931	A	T	18	69895695	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.722847465701499	0.544
18	67562932	C	A	18	69895696	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999934176340364	0.934
18	67562932	C	G	18	69895696	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999987785153153	0.94
18	67562932	C	T	18	69895696	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999912598358492	0.954
18	67562933	T	A	18	69895697	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.949129471496549	0.772
18	67562933	T	C	18	69895697	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.981149955689577	0.768
18	67562933	T	G	18	69895697	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.377445734603835	0.56
18	67562934	C	A	18	69895698	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.927737748651224	0.572
18	67562934	C	G	18	69895698	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.844301904926631	0.634
18	67562934	C	T	18	69895698	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.33345576702502E-5	0.004
18	67562935	A	C	18	69895699	y	y	splicing	CD226(NM_006566:exon5:c.727+2T>G)	.	.	splicing	ENSG00000150637(ENST00000578928:exon2:c.109+2T>G;ENST00000280200:exon5:c.727+2T>G;ENST00000581982:exon3:c.262+2T>G;ENST00000577287:exon5:c.262+2T>G;ENST00000582621:exon4:c.727+2T>G;ENST00000579496:exon5:c.727+2T>G)	.	.	0.999989378869813	0.75
18	67562935	A	G	18	69895699	y	y	splicing	CD226(NM_006566:exon5:c.727+2T>C)	.	.	splicing	ENSG00000150637(ENST00000578928:exon2:c.109+2T>C;ENST00000280200:exon5:c.727+2T>C;ENST00000581982:exon3:c.262+2T>C;ENST00000577287:exon5:c.262+2T>C;ENST00000582621:exon4:c.727+2T>C;ENST00000579496:exon5:c.727+2T>C)	.	.	0.999339874422365	0.666
18	67562935	A	T	18	69895699	y	y	splicing	CD226(NM_006566:exon5:c.727+2T>A)	.	.	splicing	ENSG00000150637(ENST00000578928:exon2:c.109+2T>A;ENST00000280200:exon5:c.727+2T>A;ENST00000581982:exon3:c.262+2T>A;ENST00000577287:exon5:c.262+2T>A;ENST00000582621:exon4:c.727+2T>A;ENST00000579496:exon5:c.727+2T>A)	.	.	0.999984399620937	0.748
18	67562936	C	A	18	69895700	y	y	splicing	CD226(NM_006566:exon5:c.727+1G>T)	.	.	splicing	ENSG00000150637(ENST00000578928:exon2:c.109+1G>T;ENST00000280200:exon5:c.727+1G>T;ENST00000581982:exon3:c.262+1G>T;ENST00000577287:exon5:c.262+1G>T;ENST00000582621:exon4:c.727+1G>T;ENST00000579496:exon5:c.727+1G>T)	.	.	0.999955942530675	0.766
18	67562936	C	G	18	69895700	y	y	splicing	CD226(NM_006566:exon5:c.727+1G>C)	.	.	splicing	ENSG00000150637(ENST00000578928:exon2:c.109+1G>C;ENST00000280200:exon5:c.727+1G>C;ENST00000581982:exon3:c.262+1G>C;ENST00000577287:exon5:c.262+1G>C;ENST00000582621:exon4:c.727+1G>C;ENST00000579496:exon5:c.727+1G>C)	.	.	0.999955942530675	0.762
18	67562936	C	T	18	69895700	y	y	splicing	CD226(NM_006566:exon5:c.727+1G>A)	.	.	splicing	ENSG00000150637(ENST00000578928:exon2:c.109+1G>A;ENST00000280200:exon5:c.727+1G>A;ENST00000581982:exon3:c.262+1G>A;ENST00000577287:exon5:c.262+1G>A;ENST00000582621:exon4:c.727+1G>A;ENST00000579496:exon5:c.727+1G>A)	.	.	0.999955942530675	0.776
18	67562937	C	A	18	69895701	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.G727T:p.G243C;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.G109T:p.G37C;ENSG00000150637:ENST00000579496:exon4:c.G727T:p.G243C;ENSG00000150637:ENST00000577287:exon4:c.G262T:p.G88C;ENSG00000150637:ENST00000280200:exon4:c.G727T:p.G243C;ENSG00000150637:ENST00000581982:exon2:c.G262T:p.G88C;ENSG00000150637:ENST00000582621:exon3:c.G727T:p.G243C;	0.995525172207024	0.902
18	67562937	C	G	18	69895701	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.G727C:p.G243R;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.G109C:p.G37R;ENSG00000150637:ENST00000579496:exon4:c.G727C:p.G243R;ENSG00000150637:ENST00000577287:exon4:c.G262C:p.G88R;ENSG00000150637:ENST00000280200:exon4:c.G727C:p.G243R;ENSG00000150637:ENST00000581982:exon2:c.G262C:p.G88R;ENSG00000150637:ENST00000582621:exon3:c.G727C:p.G243R;	0.996121753470441	0.77
18	67562937	C	T	18	69895701	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.G727A:p.G243S;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.G109A:p.G37S;ENSG00000150637:ENST00000579496:exon4:c.G727A:p.G243S;ENSG00000150637:ENST00000577287:exon4:c.G262A:p.G88S;ENSG00000150637:ENST00000280200:exon4:c.G727A:p.G243S;ENSG00000150637:ENST00000581982:exon2:c.G262A:p.G88S;ENSG00000150637:ENST00000582621:exon3:c.G727A:p.G243S;	0.9994216541301	0.908
18	67562938	C	A	18	69895702	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.G726T:p.E242D;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.G108T:p.E36D;ENSG00000150637:ENST00000579496:exon4:c.G726T:p.E242D;ENSG00000150637:ENST00000577287:exon4:c.G261T:p.E87D;ENSG00000150637:ENST00000280200:exon4:c.G726T:p.E242D;ENSG00000150637:ENST00000581982:exon2:c.G261T:p.E87D;ENSG00000150637:ENST00000582621:exon3:c.G726T:p.E242D;	1.19454259391121E-4	0.01
18	67562938	C	G	18	69895702	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.G726C:p.E242D;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.G108C:p.E36D;ENSG00000150637:ENST00000579496:exon4:c.G726C:p.E242D;ENSG00000150637:ENST00000577287:exon4:c.G261C:p.E87D;ENSG00000150637:ENST00000280200:exon4:c.G726C:p.E242D;ENSG00000150637:ENST00000581982:exon2:c.G261C:p.E87D;ENSG00000150637:ENST00000582621:exon3:c.G726C:p.E242D;	1.65156911358975E-5	0.0
18	67562938	C	T	18	69895702	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon4:c.G726A:p.E242E;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.G108A:p.E36E;ENSG00000150637:ENST00000579496:exon4:c.G726A:p.E242E;ENSG00000150637:ENST00000577287:exon4:c.G261A:p.E87E;ENSG00000150637:ENST00000280200:exon4:c.G726A:p.E242E;ENSG00000150637:ENST00000581982:exon2:c.G261A:p.E87E;ENSG00000150637:ENST00000582621:exon3:c.G726A:p.E242E;	4.92838913868791E-5	0.006
18	67562939	T	A	18	69895703	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.A725T:p.E242V;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.A107T:p.E36V;ENSG00000150637:ENST00000579496:exon4:c.A725T:p.E242V;ENSG00000150637:ENST00000577287:exon4:c.A260T:p.E87V;ENSG00000150637:ENST00000280200:exon4:c.A725T:p.E242V;ENSG00000150637:ENST00000581982:exon2:c.A260T:p.E87V;ENSG00000150637:ENST00000582621:exon3:c.A725T:p.E242V;	0.00224608778711689	0.154
18	67562939	T	C	18	69895703	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.A725G:p.E242G;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.A107G:p.E36G;ENSG00000150637:ENST00000579496:exon4:c.A725G:p.E242G;ENSG00000150637:ENST00000577287:exon4:c.A260G:p.E87G;ENSG00000150637:ENST00000280200:exon4:c.A725G:p.E242G;ENSG00000150637:ENST00000581982:exon2:c.A260G:p.E87G;ENSG00000150637:ENST00000582621:exon3:c.A725G:p.E242G;	0.00167517920604713	0.044
18	67562939	T	G	18	69895703	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.A725C:p.E242A;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000578928:exon1:c.A107C:p.E36A;ENSG00000150637:ENST00000579496:exon4:c.A725C:p.E242A;ENSG00000150637:ENST00000577287:exon4:c.A260C:p.E87A;ENSG00000150637:ENST00000280200:exon4:c.A725C:p.E242A;ENSG00000150637:ENST00000581982:exon2:c.A260C:p.E87A;ENSG00000150637:ENST00000582621:exon3:c.A725C:p.E242A;	6.43468364277588E-5	0.004
18	67563280	A	C	18	69896044	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.T384G:p.D128E;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon4:c.T384G:p.D128E;ENSG00000150637:ENST00000579496:exon4:c.T384G:p.D128E;ENSG00000150637:ENST00000280200:exon4:c.T384G:p.D128E;ENSG00000150637:ENST00000582621:exon3:c.T384G:p.D128E;	0.00104778020160893	0.026
18	67563280	A	G	18	69896044	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon4:c.T384C:p.D128D;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000583955:exon4:c.T384C:p.D128D;ENSG00000150637:ENST00000579496:exon4:c.T384C:p.D128D;ENSG00000150637:ENST00000280200:exon4:c.T384C:p.D128D;ENSG00000150637:ENST00000582621:exon3:c.T384C:p.D128D;	1.902866997268E-4	0.006
18	67563280	A	T	18	69896044	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.T384A:p.D128E;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon4:c.T384A:p.D128E;ENSG00000150637:ENST00000579496:exon4:c.T384A:p.D128E;ENSG00000150637:ENST00000280200:exon4:c.T384A:p.D128E;ENSG00000150637:ENST00000582621:exon3:c.T384A:p.D128E;	0.00160901317779796	0.024
18	67563281	T	A	18	69896045	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.A383T:p.D128V;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon4:c.A383T:p.D128V;ENSG00000150637:ENST00000579496:exon4:c.A383T:p.D128V;ENSG00000150637:ENST00000280200:exon4:c.A383T:p.D128V;ENSG00000150637:ENST00000582621:exon3:c.A383T:p.D128V;	0.00185567201881966	0.068
18	67563281	T	C	18	69896045	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.A383G:p.D128G;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon4:c.A383G:p.D128G;ENSG00000150637:ENST00000579496:exon4:c.A383G:p.D128G;ENSG00000150637:ENST00000280200:exon4:c.A383G:p.D128G;ENSG00000150637:ENST00000582621:exon3:c.A383G:p.D128G;	3.43775984682254E-5	0.022
18	67563281	T	G	18	69896045	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon4:c.A383C:p.D128A;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon4:c.A383C:p.D128A;ENSG00000150637:ENST00000579496:exon4:c.A383C:p.D128A;ENSG00000150637:ENST00000280200:exon4:c.A383C:p.D128A;ENSG00000150637:ENST00000582621:exon3:c.A383C:p.D128A;	0.00156828269766751	0.078
18	67563282	C	A	18	69896046	y	y	splicing	CD226(NM_006566:exon5:c.383-1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon5:c.383-1G>T;ENST00000582621:exon4:c.383-1G>T;ENST00000579496:exon5:c.383-1G>T;ENST00000583955:exon5:c.383-1G>T)	.	.	0.999976475802857	0.906
18	67563282	C	G	18	69896046	y	y	splicing	CD226(NM_006566:exon5:c.383-1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon5:c.383-1G>C;ENST00000582621:exon4:c.383-1G>C;ENST00000579496:exon5:c.383-1G>C;ENST00000583955:exon5:c.383-1G>C)	.	.	0.999976475802857	0.91
18	67563282	C	T	18	69896046	y	y	splicing	CD226(NM_006566:exon5:c.383-1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon5:c.383-1G>A;ENST00000582621:exon4:c.383-1G>A;ENST00000579496:exon5:c.383-1G>A;ENST00000583955:exon5:c.383-1G>A)	.	.	0.999970205305079	0.922
18	67563283	T	A	18	69896047	y	y	splicing	CD226(NM_006566:exon5:c.383-2A>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon5:c.383-2A>T;ENST00000582621:exon4:c.383-2A>T;ENST00000579496:exon5:c.383-2A>T;ENST00000583955:exon5:c.383-2A>T)	.	.	0.999964896440643	0.936
18	67563283	T	C	18	69896047	y	y	splicing	CD226(NM_006566:exon5:c.383-2A>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon5:c.383-2A>G;ENST00000582621:exon4:c.383-2A>G;ENST00000579496:exon5:c.383-2A>G;ENST00000583955:exon5:c.383-2A>G)	.	.	0.999971317418422	0.898
18	67563283	T	G	18	69896047	y	y	splicing	CD226(NM_006566:exon5:c.383-2A>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon5:c.383-2A>C;ENST00000582621:exon4:c.383-2A>C;ENST00000579496:exon5:c.383-2A>C;ENST00000583955:exon5:c.383-2A>C)	.	.	0.999971317418422	0.898
18	67563284	G	A	18	69896048	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.19739001078435	0.366
18	67563284	G	C	18	69896048	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999838586521072	0.922
18	67563284	G	T	18	69896048	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.921703141583699	0.49
18	67563285	A	C	18	69896049	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.54404724015672E-5	0.0
18	67563285	A	G	18	69896049	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.1432350654645E-5	0.008
18	67563285	A	T	18	69896049	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.48176775502632E-4	0.0
18	67563286	A	C	18	69896050	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0762663109800966	0.488
18	67563286	A	G	18	69896050	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0490992589151894	0.156
18	67563286	A	T	18	69896050	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.12743268185409	0.484
18	67563287	A	C	18	69896051	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0207420219370428	0.214
18	67563287	A	G	18	69896051	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00128034147721087	0.036
18	67563287	A	T	18	69896051	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0216558932359034	0.232
18	67563288	A	C	18	69896052	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.64610381930964E-4	0.094
18	67563288	A	G	18	69896052	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.10041182806429E-4	0.008
18	67563288	A	T	18	69896052	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.22152102046392E-4	0.088
18	67563289	G	A	18	69896053	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.89640120569293E-5	0.004
18	67563289	G	C	18	69896053	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.0989352742483E-4	0.02
18	67563289	G	T	18	69896053	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.96741635755373E-4	0.028
18	67563290	A	C	18	69896054	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.67132579488421E-4	0.056
18	67563290	A	G	18	69896054	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.2167072839464E-4	0.002
18	67563290	A	T	18	69896054	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.78575829983331E-4	0.134
18	67563291	A	C	18	69896055	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00633700825260561	0.268
18	67563291	A	G	18	69896055	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00412768417878248	0.066
18	67563291	A	T	18	69896055	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0148791051590366	0.338
18	67563292	G	A	18	69896056	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.32358598246504E-5	0.008
18	67563292	G	C	18	69896056	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.57556288419802E-4	0.016
18	67563292	G	T	18	69896056	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.83906754442048E-4	0.172
18	67563293	A	C	18	69896057	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.01637990867967E-4	0.04
18	67563293	A	G	18	69896057	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.24426965657076E-4	0.01
18	67563293	A	T	18	69896057	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.64231511263123E-4	0.104
18	67611712	A	C	18	69944476	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00157480587162464	0.03
18	67611712	A	G	18	69944476	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00157480587162464	0.03
18	67611712	A	T	18	69944476	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00157480587162464	0.066
18	67611713	A	C	18	69944477	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.33815804894828E-5	0.0
18	67611713	A	G	18	69944477	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.33815804894828E-5	0.0
18	67611713	A	T	18	69944477	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.27477746119029E-5	0.0
18	67611714	T	A	18	69944478	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.40053381145528E-4	0.002
18	67611714	T	C	18	69944478	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.55472960422104E-5	0.0
18	67611714	T	G	18	69944478	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.55472960422104E-5	0.0
18	67611715	C	A	18	69944479	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.24453633365032E-5	0.0
18	67611715	C	G	18	69944479	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.5364181533214E-5	0.0
18	67611715	C	T	18	69944479	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.24453633365032E-5	0.0
18	67611716	C	A	18	69944480	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.39331619859259E-4	0.002
18	67611716	C	G	18	69944480	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.39331619859259E-4	0.002
18	67611716	C	T	18	69944480	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.39331619859259E-4	0.002
18	67611717	T	A	18	69944481	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.3500733371869E-5	0.0
18	67611717	T	C	18	69944481	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.3500733371869E-5	0.0
18	67611717	T	G	18	69944481	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.3500733371869E-5	0.0
18	67611718	A	C	18	69944482	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	1.40053381145528E-4	0.01
18	67611718	A	G	18	69944482	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	1.40053381145528E-4	0.002
18	67611718	A	T	18	69944482	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	1.8703588275862E-4	0.002
18	67611719	C	A	18	69944483	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	1.16130803851036E-4	0.004
18	67611719	C	G	18	69944483	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	9.98044437503475E-5	0.004
18	67611719	C	T	18	69944483	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	1.63392923722222E-4	0.01
18	67611720	C	A	18	69944484	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.69930370103191E-5	0.0
18	67611720	C	G	18	69944484	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.57076726553018E-5	0.0
18	67611720	C	T	18	69944484	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.69930370103191E-5	0.0
18	67611721	T	A	18	69944485	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	4.58170094525373E-5	0.0
18	67611721	T	C	18	69944485	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.1877777554816E-5	0.0
18	67611721	T	G	18	69944485	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.1877777554816E-5	0.0
18	67611722	T	A	18	69944486	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.35855287285003E-5	0.042
18	67611722	T	C	18	69944486	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.35855287285003E-5	0.042
18	67611722	T	G	18	69944486	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.35855287285003E-5	0.042
18	67611803	T	A	18	69944567	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	6.77993525610891E-5	0.0
18	67611803	T	C	18	69944567	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	9.06619588578661E-5	0.008
18	67611803	T	G	18	69944567	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	9.06619588578661E-5	0.008
18	67611804	C	A	18	69944568	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	6.73477007530828E-5	0.008
18	67611804	C	G	18	69944568	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	6.73477007530828E-5	0.006
18	67611804	C	T	18	69944568	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	6.73477007530828E-5	0.086
18	67611805	C	A	18	69944569	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	7.27456659313109E-5	0.0
18	67611805	C	G	18	69944569	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	7.27456659313109E-5	0.0
18	67611805	C	T	18	69944569	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	7.5364181533214E-5	0.0
18	67611806	T	A	18	69944570	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	3.02642503822698E-5	0.002
18	67611806	T	C	18	69944570	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	3.02642503822698E-5	0.002
18	67611806	T	G	18	69944570	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	3.02642503822698E-5	0.002
18	67611807	G	A	18	69944571	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.07620641825897E-5	0.022
18	67611807	G	C	18	69944571	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.99153316237132E-5	0.0
18	67611807	G	T	18	69944571	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.99153316237132E-5	0.0
18	67611808	T	A	18	69944572	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.71108049909453E-5	0.028
18	67611808	T	C	18	69944572	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.55427294637899E-5	0.028
18	67611808	T	G	18	69944572	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.55427294637899E-5	0.028
18	67611809	G	A	18	69944573	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.52932449848953E-5	0.006
18	67611809	G	C	18	69944573	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.52932449848953E-5	0.002
18	67611809	G	T	18	69944573	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.52932449848953E-5	0.002
18	67611810	A	C	18	69944574	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.6857887130806E-5	0.006
18	67611810	A	G	18	69944574	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.6857887130806E-5	0.006
18	67611810	A	T	18	69944574	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.6857887130806E-5	0.006
18	67611811	C	A	18	69944575	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.06191593057169E-5	0.002
18	67611811	C	G	18	69944575	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.43168358697014E-5	0.01
18	67611811	C	T	18	69944575	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.06191593057169E-5	0.0
18	67611812	A	C	18	69944576	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.76705376348799E-4	0.018
18	67611812	A	G	18	69944576	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.76705376348799E-4	0.018
18	67611812	A	T	18	69944576	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.95016413390146E-4	0.018
18	67611813	G	A	18	69944577	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00307973867261686	0.02
18	67611813	G	C	18	69944577	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00207764894824528	0.012
18	67611813	G	T	18	69944577	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00307973867261686	0.016
18	67611814	A	C	18	69944578	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.25762508039554E-5	0.0
18	67611814	A	G	18	69944578	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.25762508039554E-5	0.0
18	67611814	A	T	18	69944578	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.82939670392646E-5	0.0
18	67611815	A	C	18	69944579	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.6305003968897E-5	0.0
18	67611815	A	G	18	69944579	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.72841159385093E-5	0.0
18	67611815	A	T	18	69944579	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.65823046292135E-5	0.0
18	67611816	A	C	18	69944580	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.82939670392646E-5	0.0
18	67611816	A	G	18	69944580	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.82939670392646E-5	0.0
18	67611816	A	T	18	69944580	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.44549828553928E-4	0.008
18	67613962	G	A	18	69946726	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.20764363238924E-4	0.002
18	67613962	G	C	18	69946726	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	9.67828156258769E-5	0.004
18	67613962	G	T	18	69946726	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	9.67828156258769E-5	0.002
18	67613963	C	A	18	69946727	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.30945796578933E-5	0.0
18	67613963	C	G	18	69946727	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.84615609883526E-5	0.0
18	67613963	C	T	18	69946727	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.84615609883526E-5	0.0
18	67613964	C	A	18	69946728	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.39923212826601E-5	0.038
18	67613964	C	G	18	69946728	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.08719997648789E-4	0.046
18	67613964	C	T	18	69946728	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.12006415810646E-4	0.028
18	67613965	C	A	18	69946729	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.940005330764666	0.554
18	67613965	C	G	18	69946729	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.854921859823294	0.498
18	67613965	C	T	18	69946729	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.953958261239318	0.61
18	67613966	T	A	18	69946730	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0949052418734292	0.388
18	67613966	T	C	18	69946730	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.149011643500957	0.43
18	67613966	T	G	18	69946730	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.063707738852561	0.362
18	67613967	T	A	18	69946731	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.961186110707623	0.594
18	67613967	T	C	18	69946731	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.88108926787283E-4	0.078
18	67613967	T	G	18	69946731	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.958125681180584	0.608
18	67613968	A	C	18	69946732	y	y	splicing	CD226(NM_006566:exon4:c.382+2T>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.382+2T>G;ENST00000582621:exon3:c.382+2T>G;ENST00000579496:exon4:c.382+2T>G;ENST00000583955:exon4:c.382+2T>G)	.	.	0.999962958601995	0.846
18	67613968	A	G	18	69946732	y	y	splicing	CD226(NM_006566:exon4:c.382+2T>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.382+2T>C;ENST00000582621:exon3:c.382+2T>C;ENST00000579496:exon4:c.382+2T>C;ENST00000583955:exon4:c.382+2T>C)	.	.	0.906508138262818	0.604
18	67613968	A	T	18	69946732	y	y	splicing	CD226(NM_006566:exon4:c.382+2T>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.382+2T>A;ENST00000582621:exon3:c.382+2T>A;ENST00000579496:exon4:c.382+2T>A;ENST00000583955:exon4:c.382+2T>A)	.	.	0.999969255906173	0.848
18	67613969	C	A	18	69946733	y	y	splicing	CD226(NM_006566:exon4:c.382+1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.382+1G>T;ENST00000582621:exon3:c.382+1G>T;ENST00000579496:exon4:c.382+1G>T;ENST00000583955:exon4:c.382+1G>T)	.	.	0.999975159880751	0.864
18	67613969	C	G	18	69946733	y	y	splicing	CD226(NM_006566:exon4:c.382+1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.382+1G>C;ENST00000582621:exon3:c.382+1G>C;ENST00000579496:exon4:c.382+1G>C;ENST00000583955:exon4:c.382+1G>C)	.	.	0.999969620222061	0.852
18	67613969	C	T	18	69946733	y	y	splicing	CD226(NM_006566:exon4:c.382+1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.382+1G>A;ENST00000582621:exon3:c.382+1G>A;ENST00000579496:exon4:c.382+1G>A;ENST00000583955:exon4:c.382+1G>A)	.	.	0.999974785031454	0.866
18	67613970	C	A	18	69946734	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon3:c.G382T:p.D128Y;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.G382T:p.D128Y;ENSG00000150637:ENST00000579496:exon3:c.G382T:p.D128Y;ENSG00000150637:ENST00000280200:exon3:c.G382T:p.D128Y;ENSG00000150637:ENST00000582621:exon2:c.G382T:p.D128Y;	0.999854896781037	0.956
18	67613970	C	G	18	69946734	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon3:c.G382C:p.D128H;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.G382C:p.D128H;ENSG00000150637:ENST00000579496:exon3:c.G382C:p.D128H;ENSG00000150637:ENST00000280200:exon3:c.G382C:p.D128H;ENSG00000150637:ENST00000582621:exon2:c.G382C:p.D128H;	0.99991436147134	0.936
18	67613970	C	T	18	69946734	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon3:c.G382A:p.D128N;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.G382A:p.D128N;ENSG00000150637:ENST00000579496:exon3:c.G382A:p.D128N;ENSG00000150637:ENST00000280200:exon3:c.G382A:p.D128N;ENSG00000150637:ENST00000582621:exon2:c.G382A:p.D128N;	0.999981854095685	0.984
18	67613971	T	A	18	69946735	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon3:c.A381T:p.S127S;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.A381T:p.S127S;ENSG00000150637:ENST00000579496:exon3:c.A381T:p.S127S;ENSG00000150637:ENST00000280200:exon3:c.A381T:p.S127S;ENSG00000150637:ENST00000580335:exon3:c.A381T:p.S127S;ENSG00000150637:ENST00000582621:exon2:c.A381T:p.S127S;	0.0527651013383098	0.346
18	67613971	T	C	18	69946735	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon3:c.A381G:p.S127S;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.A381G:p.S127S;ENSG00000150637:ENST00000579496:exon3:c.A381G:p.S127S;ENSG00000150637:ENST00000280200:exon3:c.A381G:p.S127S;ENSG00000150637:ENST00000580335:exon3:c.A381G:p.S127S;ENSG00000150637:ENST00000582621:exon2:c.A381G:p.S127S;	0.0425373423895564	0.252
18	67613971	T	G	18	69946735	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon3:c.A381C:p.S127S;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.A381C:p.S127S;ENSG00000150637:ENST00000579496:exon3:c.A381C:p.S127S;ENSG00000150637:ENST00000280200:exon3:c.A381C:p.S127S;ENSG00000150637:ENST00000580335:exon3:c.A381C:p.S127S;ENSG00000150637:ENST00000582621:exon2:c.A381C:p.S127S;	0.0357721318310028	0.388
18	67613972	G	A	18	69946736	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon3:c.C380T:p.S127L;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.C380T:p.S127L;ENSG00000150637:ENST00000579496:exon3:c.C380T:p.S127L;ENSG00000150637:ENST00000280200:exon3:c.C380T:p.S127L;ENSG00000150637:ENST00000580335:exon3:c.C380T:p.S127L;ENSG00000150637:ENST00000582621:exon2:c.C380T:p.S127L;	0.501571822313067	0.35
18	67613972	G	C	18	69946736	y	y	exonic	CD226	stopgain SNV	CD226:NM_006566:exon3:c.C380G:p.S127X;	exonic	ENSG00000150637	stopgain SNV	ENSG00000150637:ENST00000583955:exon3:c.C380G:p.S127X;ENSG00000150637:ENST00000579496:exon3:c.C380G:p.S127X;ENSG00000150637:ENST00000280200:exon3:c.C380G:p.S127X;ENSG00000150637:ENST00000580335:exon3:c.C380G:p.S127X;ENSG00000150637:ENST00000582621:exon2:c.C380G:p.S127X;	0.0414037491570987	0.34
18	67613972	G	T	18	69946736	y	y	exonic	CD226	stopgain SNV	CD226:NM_006566:exon3:c.C380A:p.S127X;	exonic	ENSG00000150637	stopgain SNV	ENSG00000150637:ENST00000583955:exon3:c.C380A:p.S127X;ENSG00000150637:ENST00000579496:exon3:c.C380A:p.S127X;ENSG00000150637:ENST00000280200:exon3:c.C380A:p.S127X;ENSG00000150637:ENST00000580335:exon3:c.C380A:p.S127X;ENSG00000150637:ENST00000582621:exon2:c.C380A:p.S127X;	0.101314107989625	0.46
18	67614304	A	C	18	69947068	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon3:c.T48G:p.A16A;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.T48G:p.A16A;ENSG00000150637:ENST00000579496:exon3:c.T48G:p.A16A;ENSG00000150637:ENST00000280200:exon3:c.T48G:p.A16A;ENSG00000150637:ENST00000580335:exon3:c.T48G:p.A16A;ENSG00000150637:ENST00000582621:exon2:c.T48G:p.A16A;	4.42425224888466E-4	0.064
18	67614304	A	G	18	69947068	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon3:c.T48C:p.A16A;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.T48C:p.A16A;ENSG00000150637:ENST00000579496:exon3:c.T48C:p.A16A;ENSG00000150637:ENST00000280200:exon3:c.T48C:p.A16A;ENSG00000150637:ENST00000580335:exon3:c.T48C:p.A16A;ENSG00000150637:ENST00000582621:exon2:c.T48C:p.A16A;	0.00112533126905507	0.086
18	67614304	A	T	18	69947068	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon3:c.T48A:p.A16A;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.T48A:p.A16A;ENSG00000150637:ENST00000579496:exon3:c.T48A:p.A16A;ENSG00000150637:ENST00000280200:exon3:c.T48A:p.A16A;ENSG00000150637:ENST00000580335:exon3:c.T48A:p.A16A;ENSG00000150637:ENST00000582621:exon2:c.T48A:p.A16A;	0.00116198997251994	0.084
18	67614305	G	A	18	69947069	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon3:c.C47T:p.A16V;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.C47T:p.A16V;ENSG00000150637:ENST00000579496:exon3:c.C47T:p.A16V;ENSG00000150637:ENST00000280200:exon3:c.C47T:p.A16V;ENSG00000150637:ENST00000580335:exon3:c.C47T:p.A16V;ENSG00000150637:ENST00000582621:exon2:c.C47T:p.A16V;	0.0199856891861365	0.402
18	67614305	G	C	18	69947069	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon3:c.C47G:p.A16G;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.C47G:p.A16G;ENSG00000150637:ENST00000579496:exon3:c.C47G:p.A16G;ENSG00000150637:ENST00000280200:exon3:c.C47G:p.A16G;ENSG00000150637:ENST00000580335:exon3:c.C47G:p.A16G;ENSG00000150637:ENST00000582621:exon2:c.C47G:p.A16G;	0.00173376899443678	0.122
18	67614305	G	T	18	69947069	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon3:c.C47A:p.A16D;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon3:c.C47A:p.A16D;ENSG00000150637:ENST00000579496:exon3:c.C47A:p.A16D;ENSG00000150637:ENST00000280200:exon3:c.C47A:p.A16D;ENSG00000150637:ENST00000580335:exon3:c.C47A:p.A16D;ENSG00000150637:ENST00000582621:exon2:c.C47A:p.A16D;	0.0300361107290578	0.31
18	67614306	C	A	18	69947070	y	y	splicing	CD226(NM_006566:exon4:c.47-1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.47-1G>T;ENST00000582621:exon3:c.47-1G>T;ENST00000579496:exon4:c.47-1G>T;ENST00000583955:exon4:c.47-1G>T;ENST00000580335:exon4:c.47-1G>T)	.	.	0.999971552192949	0.894
18	67614306	C	G	18	69947070	y	y	splicing	CD226(NM_006566:exon4:c.47-1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.47-1G>C;ENST00000582621:exon3:c.47-1G>C;ENST00000579496:exon4:c.47-1G>C;ENST00000583955:exon4:c.47-1G>C;ENST00000580335:exon4:c.47-1G>C)	.	.	0.999971552192949	0.886
18	67614306	C	T	18	69947070	y	y	splicing	CD226(NM_006566:exon4:c.47-1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.47-1G>A;ENST00000582621:exon3:c.47-1G>A;ENST00000579496:exon4:c.47-1G>A;ENST00000583955:exon4:c.47-1G>A;ENST00000580335:exon4:c.47-1G>A)	.	.	0.999974234781627	0.896
18	67614307	T	A	18	69947071	y	y	splicing	CD226(NM_006566:exon4:c.47-2A>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.47-2A>T;ENST00000582621:exon3:c.47-2A>T;ENST00000579496:exon4:c.47-2A>T;ENST00000583955:exon4:c.47-2A>T;ENST00000580335:exon4:c.47-2A>T)	.	.	0.999968585001639	0.888
18	67614307	T	C	18	69947071	y	y	splicing	CD226(NM_006566:exon4:c.47-2A>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.47-2A>G;ENST00000582621:exon3:c.47-2A>G;ENST00000579496:exon4:c.47-2A>G;ENST00000583955:exon4:c.47-2A>G;ENST00000580335:exon4:c.47-2A>G)	.	.	0.999965314197099	0.886
18	67614307	T	G	18	69947071	y	y	splicing	CD226(NM_006566:exon4:c.47-2A>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon4:c.47-2A>C;ENST00000582621:exon3:c.47-2A>C;ENST00000579496:exon4:c.47-2A>C;ENST00000583955:exon4:c.47-2A>C;ENST00000580335:exon4:c.47-2A>C)	.	.	0.999965314197099	0.886
18	67614308	G	A	18	69947072	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00104133604417654	0.03
18	67614308	G	C	18	69947072	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999591693458272	0.872
18	67614308	G	T	18	69947072	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.129122401395141	0.528
18	67614309	A	C	18	69947073	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.31660108715769E-4	0.024
18	67614309	A	G	18	69947073	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.40688732494146E-5	0.0
18	67614309	A	T	18	69947073	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.43814370055705E-5	0.006
18	67614310	A	C	18	69947074	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.973049247823828	0.674
18	67614310	A	G	18	69947074	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0385294198234826	0.266
18	67614310	A	T	18	69947074	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.964427840728486	0.698
18	67614311	A	C	18	69947075	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999946736079681	0.972
18	67614311	A	G	18	69947075	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00144900124193384	0.126
18	67614311	A	T	18	69947075	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.719328236558952	0.566
18	67614312	T	A	18	69947076	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.89840865044429E-5	0.02
18	67614312	T	C	18	69947076	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.68916126596642E-4	0.01
18	67614312	T	G	18	69947076	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	9.1222347564475E-5	0.008
18	67614313	A	C	18	69947077	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999909725805898	0.986
18	67614313	A	G	18	69947077	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.12730489248139E-4	0.036
18	67614313	A	T	18	69947077	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0102029010974924	0.24
18	67614314	T	A	18	69947078	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.41516498114287E-5	0.006
18	67614314	T	C	18	69947078	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.02569468383318E-5	0.0
18	67614314	T	G	18	69947078	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.49811543647207E-5	0.002
18	67614315	A	C	18	69947079	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.216997155287089	0.524
18	67614315	A	G	18	69947079	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.22185408647151E-4	0.09
18	67614315	A	T	18	69947079	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0966902293443214	0.386
18	67614316	C	A	18	69947080	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	7.50106619841518E-5	0.036
18	67614316	C	G	18	69947080	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.22324660413101E-5	0.008
18	67614316	C	T	18	69947080	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0013935881049935	0.108
18	67614317	A	C	18	69947081	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.0019876264626751	0.16
18	67614317	A	G	18	69947081	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.80550967812167E-4	0.01
18	67614317	A	T	18	69947081	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.99867410125644	0.926
18	67614589	A	C	18	69947353	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.51221660652217E-4	0.0
18	67614589	A	G	18	69947353	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	8.63652526185181E-5	0.0
18	67614589	A	T	18	69947353	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.35543540100927E-4	0.0
18	67614590	T	A	18	69947354	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.00188076502566155	0.136
18	67614590	T	C	18	69947354	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.38995424029206E-4	0.02
18	67614590	T	G	18	69947354	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.24518164096275E-4	0.004
18	67614591	C	A	18	69947355	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.41375872703024E-4	0.004
18	67614591	C	G	18	69947355	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	9.37744491143478E-5	0.03
18	67614591	C	T	18	69947355	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.79457448220427E-4	0.022
18	67614592	T	A	18	69947356	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	5.78543683610552E-4	0.048
18	67614592	T	C	18	69947356	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.69741438581238E-4	0.026
18	67614592	T	G	18	69947356	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.006020563957622	0.048
18	67614593	T	A	18	69947357	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.997760396515398	0.824
18	67614593	T	C	18	69947357	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.998860070815144	0.924
18	67614593	T	G	18	69947357	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.95198662362621	0.664
18	67614594	T	A	18	69947358	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999850140674421	0.92
18	67614594	T	C	18	69947358	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999051205083271	0.972
18	67614594	T	G	18	69947358	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999850140674421	0.922
18	67614595	A	C	18	69947359	y	y	splicing	CD226(NM_006566:exon3:c.46+2T>G)	.	.	splicing	ENSG00000150637(ENST00000280200:exon3:c.46+2T>G;ENST00000582621:exon2:c.46+2T>G;ENST00000579496:exon3:c.46+2T>G;ENST00000583955:exon3:c.46+2T>G;ENST00000580335:exon3:c.46+2T>G)	.	.	0.999988247793601	0.914
18	67614595	A	G	18	69947359	y	y	splicing	CD226(NM_006566:exon3:c.46+2T>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon3:c.46+2T>C;ENST00000582621:exon2:c.46+2T>C;ENST00000579496:exon3:c.46+2T>C;ENST00000583955:exon3:c.46+2T>C;ENST00000580335:exon3:c.46+2T>C)	.	.	0.98918007292081	0.684
18	67614595	A	T	18	69947359	y	y	splicing	CD226(NM_006566:exon3:c.46+2T>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon3:c.46+2T>A;ENST00000582621:exon2:c.46+2T>A;ENST00000579496:exon3:c.46+2T>A;ENST00000583955:exon3:c.46+2T>A;ENST00000580335:exon3:c.46+2T>A)	.	.	0.999988247793601	0.914
18	67614596	C	A	18	69947360	y	y	splicing	CD226(NM_006566:exon3:c.46+1G>T)	.	.	splicing	ENSG00000150637(ENST00000280200:exon3:c.46+1G>T;ENST00000582621:exon2:c.46+1G>T;ENST00000579496:exon3:c.46+1G>T;ENST00000583955:exon3:c.46+1G>T;ENST00000580335:exon3:c.46+1G>T)	.	.	0.999990361384395	0.92
18	67614596	C	G	18	69947360	y	y	splicing	CD226(NM_006566:exon3:c.46+1G>C)	.	.	splicing	ENSG00000150637(ENST00000280200:exon3:c.46+1G>C;ENST00000582621:exon2:c.46+1G>C;ENST00000579496:exon3:c.46+1G>C;ENST00000583955:exon3:c.46+1G>C;ENST00000580335:exon3:c.46+1G>C)	.	.	0.999990361384395	0.924
18	67614596	C	T	18	69947360	y	y	splicing	CD226(NM_006566:exon3:c.46+1G>A)	.	.	splicing	ENSG00000150637(ENST00000280200:exon3:c.46+1G>A;ENST00000582621:exon2:c.46+1G>A;ENST00000579496:exon3:c.46+1G>A;ENST00000583955:exon3:c.46+1G>A;ENST00000580335:exon3:c.46+1G>A)	.	.	0.999990361384395	0.922
18	67614597	C	A	18	69947361	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon2:c.G46T:p.A16S;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.G46T:p.A16S;ENSG00000150637:ENST00000579496:exon2:c.G46T:p.A16S;ENSG00000150637:ENST00000280200:exon2:c.G46T:p.A16S;ENSG00000150637:ENST00000580335:exon2:c.G46T:p.A16S;ENSG00000150637:ENST00000582621:exon1:c.G46T:p.A16S;	0.999990103804354	1.0
18	67614597	C	G	18	69947361	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon2:c.G46C:p.A16P;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.G46C:p.A16P;ENSG00000150637:ENST00000579496:exon2:c.G46C:p.A16P;ENSG00000150637:ENST00000280200:exon2:c.G46C:p.A16P;ENSG00000150637:ENST00000580335:exon2:c.G46C:p.A16P;ENSG00000150637:ENST00000582621:exon1:c.G46C:p.A16P;	0.999997610789446	1.0
18	67614597	C	T	18	69947361	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon2:c.G46A:p.A16T;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.G46A:p.A16T;ENSG00000150637:ENST00000579496:exon2:c.G46A:p.A16T;ENSG00000150637:ENST00000280200:exon2:c.G46A:p.A16T;ENSG00000150637:ENST00000580335:exon2:c.G46A:p.A16T;ENSG00000150637:ENST00000582621:exon1:c.G46A:p.A16T;	0.999989069994437	1.0
18	67614598	T	A	18	69947362	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon2:c.A45T:p.R15S;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.A45T:p.R15S;ENSG00000150637:ENST00000579496:exon2:c.A45T:p.R15S;ENSG00000150637:ENST00000280200:exon2:c.A45T:p.R15S;ENSG00000150637:ENST00000580335:exon2:c.A45T:p.R15S;ENSG00000150637:ENST00000582621:exon1:c.A45T:p.R15S;	0.999760899325159	0.978
18	67614598	T	C	18	69947362	y	y	exonic	CD226	synonymous SNV	CD226:NM_006566:exon2:c.A45G:p.R15R;	exonic	ENSG00000150637	synonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.A45G:p.R15R;ENSG00000150637:ENST00000579496:exon2:c.A45G:p.R15R;ENSG00000150637:ENST00000280200:exon2:c.A45G:p.R15R;ENSG00000150637:ENST00000580335:exon2:c.A45G:p.R15R;ENSG00000150637:ENST00000582621:exon1:c.A45G:p.R15R;	0.99979606860743	0.938
18	67614598	T	G	18	69947362	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon2:c.A45C:p.R15S;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.A45C:p.R15S;ENSG00000150637:ENST00000579496:exon2:c.A45C:p.R15S;ENSG00000150637:ENST00000280200:exon2:c.A45C:p.R15S;ENSG00000150637:ENST00000580335:exon2:c.A45C:p.R15S;ENSG00000150637:ENST00000582621:exon1:c.A45C:p.R15S;	0.99984124905908	0.99
18	67614599	C	A	18	69947363	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon2:c.G44T:p.R15I;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.G44T:p.R15I;ENSG00000150637:ENST00000579496:exon2:c.G44T:p.R15I;ENSG00000150637:ENST00000280200:exon2:c.G44T:p.R15I;ENSG00000150637:ENST00000580335:exon2:c.G44T:p.R15I;ENSG00000150637:ENST00000582621:exon1:c.G44T:p.R15I;	1.96873159699753E-4	0.144
18	67614599	C	G	18	69947363	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon2:c.G44C:p.R15T;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.G44C:p.R15T;ENSG00000150637:ENST00000579496:exon2:c.G44C:p.R15T;ENSG00000150637:ENST00000280200:exon2:c.G44C:p.R15T;ENSG00000150637:ENST00000580335:exon2:c.G44C:p.R15T;ENSG00000150637:ENST00000582621:exon1:c.G44C:p.R15T;	2.77872298885128E-5	0.0
18	67614599	C	T	18	69947363	y	y	exonic	CD226	nonsynonymous SNV	CD226:NM_006566:exon2:c.G44A:p.R15K;	exonic	ENSG00000150637	nonsynonymous SNV	ENSG00000150637:ENST00000583955:exon2:c.G44A:p.R15K;ENSG00000150637:ENST00000579496:exon2:c.G44A:p.R15K;ENSG00000150637:ENST00000280200:exon2:c.G44A:p.R15K;ENSG00000150637:ENST00000580335:exon2:c.G44A:p.R15K;ENSG00000150637:ENST00000582621:exon1:c.G44A:p.R15K;	3.46915912180171E-5	0.0
18	67614668	T	A	18	69947432	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	1.86525297245952E-5	0.0
18	67614668	T	C	18	69947432	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	2.28423912230746E-5	0.014
18	67614668	T	G	18	69947432	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	3.42640951491087E-5	0.006
18	67614669	T	A	18	69947433	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	4.47409491487198E-4	0.048
18	67614669	T	C	18	69947433	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	1.60881685337584E-5	0.0
18	67614669	T	G	18	69947433	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	9.89927320280095E-5	0.008
18	67614670	C	A	18	69947434	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999867593286084	0.716
18	67614670	C	G	18	69947434	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999867593286084	0.716
18	67614670	C	T	18	69947434	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999867593286084	0.722
18	67614671	T	A	18	69947435	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999268924959438	0.514
18	67614671	T	C	18	69947435	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999268924959438	0.51
18	67614671	T	G	18	69947435	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999268924959438	0.51
18	67614672	A	C	18	69947436	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.953289938625813	0.624
18	67614672	A	G	18	69947436	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.71628894366483E-5	0.042
18	67614672	A	T	18	69947436	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.0107342922945454	0.172
18	67614673	T	A	18	69947437	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	4.34602297719192E-5	0.008
18	67614673	T	C	18	69947437	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.999071971114452	0.958
18	67614673	T	G	18	69947437	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	4.16990187698839E-5	0.002
18	67614674	T	A	18	69947438	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	6.88121391138481E-6	0.0
18	67614674	T	C	18	69947438	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.14154116599005E-5	0.04
18	67614674	T	G	18	69947438	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	4.03335860044896E-6	0.0
18	67614675	A	C	18	69947439	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	5.55335503801492E-4	0.098
18	67614675	A	G	18	69947439	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.78390416849835E-5	0.006
18	67614675	A	T	18	69947439	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.06619091114263E-4	0.032
18	67614676	A	C	18	69947440	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.34339252817794E-4	0.022
18	67614676	A	G	18	69947440	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	4.42141721520708E-5	0.0
18	67614676	A	T	18	69947440	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.00114789260335024	0.084
18	67614677	A	C	18	69947441	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	5.22767376727463E-5	0.1
18	67614677	A	G	18	69947441	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	8.06370048594195E-6	0.006
18	67614677	A	T	18	69947441	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	8.80482146690233E-5	0.002
18	67614678	A	C	18	69947442	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.70279219357603E-4	0.04
18	67614678	A	G	18	69947442	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	5.3663080004175E-5	0.006
18	67614678	A	T	18	69947442	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.24253849730289E-4	0.032
18	67614679	A	C	18	69947443	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.77109381297169E-5	0.046
18	67614679	A	G	18	69947443	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.87116643964429E-5	0.0
18	67614679	A	T	18	69947443	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.14696415434634E-4	0.026
18	67614680	A	C	18	69947444	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.0100834346663684	0.312
18	67614680	A	G	18	69947444	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.00580800867499469	0.098
18	67614680	A	T	18	69947444	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.0469983465469623	0.392
18	67614681	A	C	18	69947445	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.07722658317638E-4	0.146
18	67614681	A	G	18	69947445	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.66396608492185E-4	0.014
18	67614681	A	T	18	69947445	y	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.82041936628827E-4	0.086
18	67614767	T	A	18	69947531	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	6.14656354099398E-5	0.0
18	67614767	T	C	18	69947531	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	6.14656354099398E-5	0.0
18	67614767	T	G	18	69947531	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	6.14656354099398E-5	0.0
18	67614768	T	A	18	69947532	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.218481417048237	0.49
18	67614768	T	C	18	69947532	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.0813865848456973	0.4
18	67614768	T	G	18	69947532	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.0813865848456973	0.402
18	67614769	C	A	18	69947533	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	0.175681871482578	0.41
18	67614769	C	G	18	69947533	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	0.142389814346007	0.364
18	67614769	C	T	18	69947533	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	0.298638806550542	0.472
18	67614770	T	A	18	69947534	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	0.828045442883565	0.774
18	67614770	T	C	18	69947534	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	0.828045442883565	0.768
18	67614770	T	G	18	69947534	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	0.828045442883565	0.768
18	67614771	G	A	18	69947535	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	9.66424010042737E-5	0.058
18	67614771	G	C	18	69947535	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.37937584880357E-4	0.026
18	67614771	G	T	18	69947535	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.37937584880357E-4	0.026
18	67614772	A	C	18	69947536	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.03003862921799E-4	0.086
18	67614772	A	G	18	69947536	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.03003862921799E-4	0.086
18	67614772	A	T	18	69947536	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	9.37665432545474E-5	0.082
18	67614773	A	C	18	69947537	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.15838005414123E-4	0.0
18	67614773	A	G	18	69947537	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.15838005414123E-4	0.0
18	67614773	A	T	18	69947537	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.15838005414123E-4	0.0
18	67614774	G	A	18	69947538	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.00445273769687348	0.064
18	67614774	G	C	18	69947538	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.00327451117831367	0.044
18	67614774	G	T	18	69947538	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.00445273769687348	0.044
18	67614775	T	A	18	69947539	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.15838005414123E-4	0.006
18	67614775	T	C	18	69947539	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.91335385279169E-4	0.0
18	67614775	T	G	18	69947539	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	7.91335385279169E-4	0.0
18	67614776	A	C	18	69947540	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.40940918270023E-4	0.0
18	67614776	A	G	18	69947540	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.40940918270023E-4	0.0
18	67614776	A	T	18	69947540	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.61228075999277E-4	0.002
18	67614777	T	A	18	69947541	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	4.94596726999572E-5	0.0
18	67614777	T	C	18	69947541	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	5.4518697930878E-5	0.002
18	67614777	T	G	18	69947541	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	5.4518697930878E-5	0.002
18	67614778	G	A	18	69947542	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.59226171300697E-4	0.004
18	67614778	G	C	18	69947542	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.59226171300697E-4	0.002
18	67614778	G	T	18	69947542	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.59226171300697E-4	0.002
18	67614779	A	C	18	69947543	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.221760867841436	0.486
18	67614779	A	G	18	69947543	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.221760867841436	0.486
18	67614779	A	T	18	69947543	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	0.365224415256434	0.548
18	67614780	A	C	18	69947544	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	2.62185309406582E-4	0.0
18	67614780	A	G	18	69947544	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.66802757202875E-4	0.0
18	67614780	A	T	18	69947544	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	5.13889295159341E-4	0.06
18	67623842	T	A	18	69956606	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.80274866394675E-5	0.0
18	67623842	T	C	18	69956606	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.80274866394675E-5	0.0
18	67623842	T	G	18	69956606	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.80274866394675E-5	0.0
18	67623843	A	C	18	69956607	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.78205327723092E-5	0.066
18	67623843	A	G	18	69956607	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.78205327723092E-5	0.042
18	67623843	A	T	18	69956607	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.82827935381688E-5	0.004
18	67623844	A	C	18	69956608	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.30852315876377E-5	0.008
18	67623844	A	G	18	69956608	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.30852315876377E-5	0.008
18	67623844	A	T	18	69956608	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.30852315876377E-5	0.008
18	67623845	C	A	18	69956609	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.71037163550947E-5	0.03
18	67623845	C	G	18	69956609	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.71037163550947E-5	0.024
18	67623845	C	T	18	69956609	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.71037163550947E-5	0.014
18	67623846	T	A	18	69956610	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.30852315876377E-5	0.008
18	67623846	T	C	18	69956610	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.30852315876377E-5	0.008
18	67623846	T	G	18	69956610	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.30852315876377E-5	0.008
18	67623847	T	A	18	69956611	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.42005417025298E-5	0.0
18	67623847	T	C	18	69956611	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.42005417025298E-5	0.0
18	67623847	T	G	18	69956611	n	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.42005417025298E-5	0.0
18	67623848	A	C	18	69956612	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	9.57123356397867E-5	0.024
18	67623848	A	G	18	69956612	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	9.57123356397867E-5	0.01
18	67623848	A	T	18	69956612	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	9.57123356397867E-5	0.008
18	67623849	C	A	18	69956613	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	1.99153316237132E-5	0.0
18	67623849	C	G	18	69956613	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	1.99153316237132E-5	0.0
18	67623849	C	T	18	69956613	n	y	intronic	CD226	.	.	splicing	ENSG00000150637	.	.	1.99153316237132E-5	0.0
18	67623850	T	A	18	69956614	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.07620641825897E-5	0.002
18	67623850	T	C	18	69956614	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.07620641825897E-5	0.002
18	67623850	T	G	18	69956614	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.07620641825897E-5	0.002
18	67623851	C	A	18	69956615	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.99153316237132E-5	0.0
18	67623851	C	G	18	69956615	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.99153316237132E-5	0.0
18	67623851	C	T	18	69956615	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	1.99153316237132E-5	0.0
18	67623852	C	A	18	69956616	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.21557472225283E-5	0.0
18	67623852	C	G	18	69956616	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.21557472225283E-5	0.0
18	67623852	C	T	18	69956616	n	y	intronic	CD226	.	.	UTR5	ENSG00000150637	.	.	3.21557472225283E-5	0.0
18	67623983	T	A	18	69956747	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.83548795583233E-4	0.0
18	67623983	T	C	18	69956747	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.5594952957678E-4	0.0
18	67623983	T	G	18	69956747	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	2.83548795583233E-4	0.0
18	67623984	T	A	18	69956748	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.76488551237941E-4	0.046
18	67623984	T	C	18	69956748	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	1.76488551237941E-4	0.008
18	67623984	T	G	18	69956748	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.6375511314269E-4	0.008
18	67623985	A	C	18	69956749	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.980213726457114	0.662
18	67623985	A	G	18	69956749	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.985645529552493	0.704
18	67623985	A	T	18	69956749	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.984364347845168	0.726
18	67623986	C	A	18	69956750	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999711597185399	0.75
18	67623986	C	G	18	69956750	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999902345629123	0.824
18	67623986	C	T	18	69956750	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.999664895293662	0.886
18	67623987	T	A	18	69956751	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.938155597841158	0.486
18	67623987	T	C	18	69956751	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.944397975600378	0.596
18	67623987	T	G	18	69956751	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	0.66810152288546	0.4
18	67623988	A	C	18	69956752	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	3.16304409726217E-4	0.058
18	67623988	A	G	18	69956752	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	6.7064570903087E-5	0.006
18	67623988	A	T	18	69956752	y	y	intronic	CD226	.	.	intronic	ENSG00000150637	.	.	4.35580620947605E-4	0.098
18	67623989	A	C	18	69956753	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999993672935256	0.928
18	67623989	A	G	18	69956753	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.989732985218383	0.598
18	67623989	A	T	18	69956753	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999993672935256	0.93
18	67623990	C	A	18	69956754	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999988247793601	0.928
18	67623990	C	G	18	69956754	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999988247793601	0.926
18	67623990	C	T	18	69956754	y	y	splicing	CD226	.	.	splicing	ENSG00000150637	.	.	0.999988247793601	0.928
18	67623991	C	A	18	69956755	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.999953659699372	0.982
18	67623991	C	G	18	69956755	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.999994527855841	0.99
18	67623991	C	T	18	69956755	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.999555470792423	0.986
18	67623992	T	A	18	69956756	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.999602651174847	0.972
18	67623992	T	C	18	69956756	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.999319645213542	0.962
18	67623992	T	G	18	69956756	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.997086656315784	0.956
18	67623993	T	A	18	69956757	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.220466978322752	0.39
18	67623993	T	C	18	69956757	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.00624643377350123	0.068
18	67623993	T	G	18	69956757	y	y	UTR5	CD226	.	.	UTR5	ENSG00000150637	.	.	0.0553862455327188	0.114
18	67671471	A	C	18	70004235	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon49:c.T6597G:p.T2199T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon49:c.T6597G:p.T2199T;	8.80954916916796E-5	0.044
18	67671471	A	G	18	70004235	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon49:c.T6597C:p.T2199T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon49:c.T6597C:p.T2199T;	1.02818971253321E-4	0.06
18	67671471	A	T	18	70004235	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon49:c.T6597A:p.T2199T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon49:c.T6597A:p.T2199T;	1.49959167676303E-4	0.008
18	67671472	G	A	18	70004236	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon49:c.C6596T:p.T2199I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon49:c.C6596T:p.T2199I;	3.60336439471446E-4	0.046
18	67671472	G	C	18	70004236	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon49:c.C6596G:p.T2199S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon49:c.C6596G:p.T2199S;	1.55249954294214E-4	0.196
18	67671472	G	T	18	70004236	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon49:c.C6596A:p.T2199N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon49:c.C6596A:p.T2199N;	4.75662919132017E-5	0.004
18	67671473	C	A	18	70004237	y	y	splicing	RTTN(NM_173630:exon50:c.6596-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon50:c.6596-1G>T;ENST00000583043:exon44:c.5846-1G>T;ENST00000454359:exon49:c.6507-1G>T;ENST00000581161:exon49:c.6413-1G>T)	.	.	0.999977614472875	0.756
18	67671473	C	G	18	70004237	y	y	splicing	RTTN(NM_173630:exon50:c.6596-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon50:c.6596-1G>C;ENST00000583043:exon44:c.5846-1G>C;ENST00000454359:exon49:c.6507-1G>C;ENST00000581161:exon49:c.6413-1G>C)	.	.	0.999982312740861	0.762
18	67671473	C	T	18	70004237	y	y	splicing	RTTN(NM_173630:exon50:c.6596-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon50:c.6596-1G>A;ENST00000583043:exon44:c.5846-1G>A;ENST00000454359:exon49:c.6507-1G>A;ENST00000581161:exon49:c.6413-1G>A)	.	.	0.999977614472875	0.75
18	67671474	T	A	18	70004238	y	y	splicing	RTTN(NM_173630:exon50:c.6596-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon50:c.6596-2A>T;ENST00000583043:exon44:c.5846-2A>T;ENST00000454359:exon49:c.6507-2A>T;ENST00000581161:exon49:c.6413-2A>T)	.	.	0.999980255680118	0.746
18	67671474	T	C	18	70004238	y	y	splicing	RTTN(NM_173630:exon50:c.6596-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon50:c.6596-2A>G;ENST00000583043:exon44:c.5846-2A>G;ENST00000454359:exon49:c.6507-2A>G;ENST00000581161:exon49:c.6413-2A>G)	.	.	0.999989378869813	0.75
18	67671474	T	G	18	70004238	y	y	splicing	RTTN(NM_173630:exon50:c.6596-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon50:c.6596-2A>C;ENST00000583043:exon44:c.5846-2A>C;ENST00000454359:exon49:c.6507-2A>C;ENST00000581161:exon49:c.6413-2A>C)	.	.	0.999989378869813	0.75
18	67671475	G	A	18	70004239	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.85605599846806E-4	0.076
18	67671475	G	C	18	70004239	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.995660992188918	0.894
18	67671475	G	T	18	70004239	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0571193163876473	0.424
18	67671476	A	C	18	70004240	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.75750397764712E-5	0.0
18	67671476	A	G	18	70004240	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.53607268864464E-5	0.002
18	67671476	A	T	18	70004240	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.1020973109669E-5	0.0
18	67671477	G	A	18	70004241	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.47377722996008E-5	0.038
18	67671477	G	C	18	70004241	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.94256233458684E-4	0.064
18	67671477	G	T	18	70004241	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.50697322100568E-4	0.058
18	67671478	A	C	18	70004242	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999466984663768	0.98
18	67671478	A	G	18	70004242	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.43174611280916E-5	0.0
18	67671478	A	T	18	70004242	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.20613621303254E-4	0.04
18	67671479	T	A	18	70004243	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.64516349002573E-5	0.0
18	67671479	T	C	18	70004243	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.10275622159801E-5	0.0
18	67671479	T	G	18	70004243	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.86000580631834E-5	0.006
18	67671480	A	C	18	70004244	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.17532657218417E-4	0.042
18	67671480	A	G	18	70004244	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.58810266852841E-5	0.0
18	67671480	A	T	18	70004244	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.64505034583933E-4	0.026
18	67671481	G	A	18	70004245	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.36026609603672E-5	0.006
18	67671481	G	C	18	70004245	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.23663659125388E-4	0.02
18	67671481	G	T	18	70004245	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.21032386169747E-4	0.032
18	67671482	A	C	18	70004246	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.01487689925333E-4	0.14
18	67671482	A	G	18	70004246	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.06904072110007E-4	0.002
18	67671482	A	T	18	70004246	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.32910998007964E-4	0.104
18	67671483	A	C	18	70004247	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.20901567276902E-4	0.124
18	67671483	A	G	18	70004247	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.7794413350446E-5	0.022
18	67671483	A	T	18	70004247	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.27921831957598E-4	0.118
18	67671484	A	C	18	70004248	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.015274105475047	0.252
18	67671484	A	G	18	70004248	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0110540435628554	0.08
18	67671484	A	T	18	70004248	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0139511702883618	0.308
18	67672426	C	A	18	70005190	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.65937879473535E-5	0.0
18	67672426	C	G	18	70005190	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.80326084273412E-5	0.002
18	67672426	C	T	18	70005190	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.33410685988401E-5	0.0
18	67672427	A	C	18	70005191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00453814211172773	0.044
18	67672427	A	G	18	70005191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00511899055464053	0.038
18	67672427	A	T	18	70005191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00849650540083995	0.036
18	67672428	A	C	18	70005192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.956364449528522	0.738
18	67672428	A	G	18	70005192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.88726754979129	0.744
18	67672428	A	T	18	70005192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.982148693117689	0.796
18	67672429	C	A	18	70005193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999289278417326	0.926
18	67672429	C	G	18	70005193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.990391071773656	0.91
18	67672429	C	T	18	70005193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996666206384491	0.976
18	67672430	T	A	18	70005194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.994481112241787	0.826
18	67672430	T	C	18	70005194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.983769032303879	0.826
18	67672430	T	G	18	70005194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.981944548835213	0.736
18	67672431	T	A	18	70005195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.995746011598529	0.944
18	67672431	T	C	18	70005195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.738473911302224	0.484
18	67672431	T	G	18	70005195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999894309055493	0.968
18	67672432	A	C	18	70005196	y	y	splicing	RTTN(NM_173630:exon49:c.6595+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6595+2T>G;ENST00000583043:exon43:c.5845+2T>G;ENST00000578780:exon5:c.546+2T>G;ENST00000454359:exon48:c.6506+2T>G;ENST00000581161:exon48:c.6412+2T>G)	.	.	0.999989917668626	0.928
18	67672432	A	G	18	70005196	y	y	splicing	RTTN(NM_173630:exon49:c.6595+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6595+2T>C;ENST00000583043:exon43:c.5845+2T>C;ENST00000578780:exon5:c.546+2T>C;ENST00000454359:exon48:c.6506+2T>C;ENST00000581161:exon48:c.6412+2T>C)	.	.	0.993179459523591	0.628
18	67672432	A	T	18	70005196	y	y	splicing	RTTN(NM_173630:exon49:c.6595+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6595+2T>A;ENST00000583043:exon43:c.5845+2T>A;ENST00000578780:exon5:c.546+2T>A;ENST00000454359:exon48:c.6506+2T>A;ENST00000581161:exon48:c.6412+2T>A)	.	.	0.999989917668626	0.928
18	67672433	C	A	18	70005197	y	y	splicing	RTTN(NM_173630:exon49:c.6595+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6595+1G>T;ENST00000583043:exon43:c.5845+1G>T;ENST00000578780:exon5:c.546+1G>T;ENST00000454359:exon48:c.6506+1G>T;ENST00000581161:exon48:c.6412+1G>T)	.	.	0.999981760802075	0.938
18	67672433	C	G	18	70005197	y	y	splicing	RTTN(NM_173630:exon49:c.6595+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6595+1G>C;ENST00000583043:exon43:c.5845+1G>C;ENST00000578780:exon5:c.546+1G>C;ENST00000454359:exon48:c.6506+1G>C;ENST00000581161:exon48:c.6412+1G>C)	.	.	0.999981760802075	0.938
18	67672433	C	T	18	70005197	y	y	splicing	RTTN(NM_173630:exon49:c.6595+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6595+1G>A;ENST00000583043:exon43:c.5845+1G>A;ENST00000578780:exon5:c.546+1G>A;ENST00000454359:exon48:c.6506+1G>A;ENST00000581161:exon48:c.6412+1G>A)	.	.	0.999981760802075	0.938
18	67672434	T	A	18	70005198	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.A6595T:p.T2199S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6595T:p.T2199S;	0.00154287271782031	0.044
18	67672434	T	C	18	70005198	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.A6595G:p.T2199A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6595G:p.T2199A;	2.30241366254098E-4	0.058
18	67672434	T	G	18	70005198	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.A6595C:p.T2199P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6595C:p.T2199P;	2.3052889709665E-4	0.074
18	67672435	T	A	18	70005199	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.A6594T:p.K2198N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6594T:p.K2198N;	0.994632464499571	0.898
18	67672435	T	C	18	70005199	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon48:c.A6594G:p.K2198K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6594G:p.K2198K;	0.973834210679873	0.872
18	67672435	T	G	18	70005199	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.A6594C:p.K2198N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6594C:p.K2198N;	0.98989832557694	0.908
18	67672436	T	A	18	70005200	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.A6593T:p.K2198I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6593T:p.K2198I;	0.00465936591302762	0.356
18	67672436	T	C	18	70005200	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.A6593G:p.K2198R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6593G:p.K2198R;	1.05857105461468E-4	0.014
18	67672436	T	G	18	70005200	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.A6593C:p.K2198T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.A6593C:p.K2198T;	5.5738040105995E-5	0.0
18	67672502	G	A	18	70005266	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.C6527T:p.A2176V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.C6527T:p.A2176V;	0.971500200628247	0.816
18	67672502	G	C	18	70005266	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.C6527G:p.A2176G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.C6527G:p.A2176G;	0.969306062821616	0.798
18	67672502	G	T	18	70005266	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.C6527A:p.A2176E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.C6527A:p.A2176E;	0.992049091331958	0.732
18	67672503	C	A	18	70005267	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.G6526T:p.A2176S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.G6526T:p.A2176S;	0.999957090334985	0.992
18	67672503	C	G	18	70005267	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.G6526C:p.A2176P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.G6526C:p.A2176P;	0.999930337088228	0.98
18	67672503	C	T	18	70005267	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon48:c.G6526A:p.A2176T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon48:c.G6526A:p.A2176T;	0.999865856116346	0.962
18	67672504	C	A	18	70005268	y	y	splicing	RTTN(NM_173630:exon49:c.6526-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6526-1G>T;ENST00000583043:exon43:c.5776-1G>T;ENST00000578780:exon5:c.477-1G>T;ENST00000454359:exon48:c.6437-1G>T;ENST00000581161:exon48:c.6343-1G>T)	.	.	0.999979422316293	0.944
18	67672504	C	G	18	70005268	y	y	splicing	RTTN(NM_173630:exon49:c.6526-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6526-1G>C;ENST00000583043:exon43:c.5776-1G>C;ENST00000578780:exon5:c.477-1G>C;ENST00000454359:exon48:c.6437-1G>C;ENST00000581161:exon48:c.6343-1G>C)	.	.	0.999979422316293	0.944
18	67672504	C	T	18	70005268	y	y	splicing	RTTN(NM_173630:exon49:c.6526-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6526-1G>A;ENST00000583043:exon43:c.5776-1G>A;ENST00000578780:exon5:c.477-1G>A;ENST00000454359:exon48:c.6437-1G>A;ENST00000581161:exon48:c.6343-1G>A)	.	.	0.999979422316293	0.944
18	67672505	T	A	18	70005269	y	y	splicing	RTTN(NM_173630:exon49:c.6526-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6526-2A>T;ENST00000583043:exon43:c.5776-2A>T;ENST00000578780:exon5:c.477-2A>T;ENST00000454359:exon48:c.6437-2A>T;ENST00000581161:exon48:c.6343-2A>T)	.	.	0.999915918044523	0.732
18	67672505	T	C	18	70005269	y	y	splicing	RTTN(NM_173630:exon49:c.6526-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6526-2A>G;ENST00000583043:exon43:c.5776-2A>G;ENST00000578780:exon5:c.477-2A>G;ENST00000454359:exon48:c.6437-2A>G;ENST00000581161:exon48:c.6343-2A>G)	.	.	0.999915918044523	0.72
18	67672505	T	G	18	70005269	y	y	splicing	RTTN(NM_173630:exon49:c.6526-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon49:c.6526-2A>C;ENST00000583043:exon43:c.5776-2A>C;ENST00000578780:exon5:c.477-2A>C;ENST00000454359:exon48:c.6437-2A>C;ENST00000581161:exon48:c.6343-2A>C)	.	.	0.999915918044523	0.722
18	67672506	A	C	18	70005270	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998515801257033	0.84
18	67672506	A	G	18	70005270	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.08555974549484E-4	0.036
18	67672506	A	T	18	70005270	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.973335550147066	0.624
18	67672507	G	A	18	70005271	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.74021787512488E-5	0.028
18	67672507	G	C	18	70005271	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00188453645444376	0.148
18	67672507	G	T	18	70005271	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.4172635058025E-4	0.094
18	67672508	A	C	18	70005272	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997045825990558	0.834
18	67672508	A	G	18	70005272	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0753790469556224	0.354
18	67672508	A	T	18	70005272	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997932535892585	0.848
18	67672509	A	C	18	70005273	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.866987378865259	0.508
18	67672509	A	G	18	70005273	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.11613439017296E-4	0.136
18	67672509	A	T	18	70005273	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.199716795596431	0.398
18	67672510	C	A	18	70005274	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.73489223045038E-5	0.084
18	67672510	C	G	18	70005274	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.30205051105417E-5	0.016
18	67672510	C	T	18	70005274	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00196439815047609	0.16
18	67672511	A	C	18	70005275	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.259789248938287	0.54
18	67672511	A	G	18	70005275	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.03020782329743E-4	0.066
18	67672511	A	T	18	70005275	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999971386927163	0.97
18	67672512	A	C	18	70005276	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999942483595565	0.97
18	67672512	A	G	18	70005276	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0097906160704364	0.074
18	67672512	A	T	18	70005276	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.185150887312894	0.586
18	67672513	T	A	18	70005277	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.64806483017318E-4	0.058
18	67672513	T	C	18	70005277	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.67631947755343E-4	0.004
18	67672513	T	G	18	70005277	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.97336075671208E-5	0.022
18	67672514	C	A	18	70005278	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.6639813636535E-5	0.022
18	67672514	C	G	18	70005278	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.10083185225289E-5	0.0
18	67672514	C	T	18	70005278	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.18167093316335E-4	0.03
18	67672515	C	A	18	70005279	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.57727001832095E-4	0.042
18	67672515	C	G	18	70005279	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.46527588668259E-5	0.012
18	67672515	C	T	18	70005279	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998395634156941	0.978
18	67673609	A	C	18	70006373	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.14965057555276E-4	0.004
18	67673609	A	G	18	70006373	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.35643742285575E-4	0.01
18	67673609	A	T	18	70006373	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.69336657131178E-4	0.004
18	67673610	A	C	18	70006374	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.11208670021881E-4	0.002
18	67673610	A	G	18	70006374	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.29416528583269E-4	0.002
18	67673610	A	T	18	70006374	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.4126280455484E-4	0.008
18	67673611	A	C	18	70006375	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0277553063009703	0.184
18	67673611	A	G	18	70006375	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0507529327850969	0.116
18	67673611	A	T	18	70006375	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0277240165029788	0.096
18	67673612	C	A	18	70006376	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99676409341108	0.874
18	67673612	C	G	18	70006376	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.991561044874236	0.75
18	67673612	C	T	18	70006376	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99730781242235	0.968
18	67673613	T	A	18	70006377	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.364359729187593	0.408
18	67673613	T	C	18	70006377	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0773559301986472	0.304
18	67673613	T	G	18	70006377	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.312665403546889	0.384
18	67673614	G	A	18	70006378	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.94747116466036E-4	0.014
18	67673614	G	C	18	70006378	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.44254810022099E-4	0.144
18	67673614	G	T	18	70006378	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.53800056992477E-4	0.104
18	67673615	A	C	18	70006379	y	y	splicing	RTTN(NM_173630:exon48:c.6525+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6525+2T>G;ENST00000583043:exon42:c.5775+2T>G;ENST00000578780:exon4:c.476+2T>G;ENST00000454359:exon47:c.6436+2T>G;ENST00000581161:exon47:c.6342+2T>G)	.	.	0.999989917668626	0.926
18	67673615	A	G	18	70006379	y	y	splicing	RTTN(NM_173630:exon48:c.6525+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6525+2T>C;ENST00000583043:exon42:c.5775+2T>C;ENST00000578780:exon4:c.476+2T>C;ENST00000454359:exon47:c.6436+2T>C;ENST00000581161:exon47:c.6342+2T>C)	.	.	0.990945634311904	0.62
18	67673615	A	T	18	70006379	y	y	splicing	RTTN(NM_173630:exon48:c.6525+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6525+2T>A;ENST00000583043:exon42:c.5775+2T>A;ENST00000578780:exon4:c.476+2T>A;ENST00000454359:exon47:c.6436+2T>A;ENST00000581161:exon47:c.6342+2T>A)	.	.	0.999989917668626	0.926
18	67673616	C	A	18	70006380	y	y	splicing	RTTN(NM_173630:exon48:c.6525+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6525+1G>T;ENST00000583043:exon42:c.5775+1G>T;ENST00000578780:exon4:c.476+1G>T;ENST00000454359:exon47:c.6436+1G>T;ENST00000581161:exon47:c.6342+1G>T)	.	.	0.999986675681007	0.932
18	67673616	C	G	18	70006380	y	y	splicing	RTTN(NM_173630:exon48:c.6525+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6525+1G>C;ENST00000583043:exon42:c.5775+1G>C;ENST00000578780:exon4:c.476+1G>C;ENST00000454359:exon47:c.6436+1G>C;ENST00000581161:exon47:c.6342+1G>C)	.	.	0.999986675681007	0.932
18	67673616	C	T	18	70006380	y	y	splicing	RTTN(NM_173630:exon48:c.6525+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6525+1G>A;ENST00000583043:exon42:c.5775+1G>A;ENST00000578780:exon4:c.476+1G>A;ENST00000454359:exon47:c.6436+1G>A;ENST00000581161:exon47:c.6342+1G>A)	.	.	0.999986675681007	0.932
18	67673617	C	A	18	70006381	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.G6525T:p.K2175N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.G6525T:p.K2175N;	0.999984319963783	0.992
18	67673617	C	G	18	70006381	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.G6525C:p.K2175N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.G6525C:p.K2175N;	0.99999611991146	1.0
18	67673617	C	T	18	70006381	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon47:c.G6525A:p.K2175K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.G6525A:p.K2175K;	0.999945569586644	0.99
18	67673618	T	A	18	70006382	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6524T:p.K2175M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6524T:p.K2175M;	0.999735796707224	0.996
18	67673618	T	C	18	70006382	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6524G:p.K2175R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6524G:p.K2175R;	0.999887752077652	0.99
18	67673618	T	G	18	70006382	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6524C:p.K2175T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6524C:p.K2175T;	0.99841473014633	0.98
18	67673619	T	A	18	70006383	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon47:c.A6523T:p.K2175X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon47:c.A6523T:p.K2175X;	0.982636639359541	0.706
18	67673619	T	C	18	70006383	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6523G:p.K2175E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6523G:p.K2175E;	0.100394417541187	0.38
18	67673619	T	G	18	70006383	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6523C:p.K2175Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6523C:p.K2175Q;	0.397641098457153	0.604
18	67673719	T	A	18	70006483	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6423T:p.E2141D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6423T:p.E2141D;	1.42488379999084E-5	0.002
18	67673719	T	C	18	70006483	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon47:c.A6423G:p.E2141E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6423G:p.E2141E;	3.69674828475533E-5	0.014
18	67673719	T	G	18	70006483	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6423C:p.E2141D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6423C:p.E2141D;	2.33430391389026E-5	0.006
18	67673720	T	A	18	70006484	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6422T:p.E2141V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6422T:p.E2141V;	0.191091001696559	0.412
18	67673720	T	C	18	70006484	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6422G:p.E2141G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6422G:p.E2141G;	0.0063025873947814	0.092
18	67673720	T	G	18	70006484	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon47:c.A6422C:p.E2141A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon47:c.A6422C:p.E2141A;	0.0870703391971798	0.238
18	67673721	C	A	18	70006485	y	y	splicing	RTTN(NM_173630:exon48:c.6422-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6422-1G>T;ENST00000583043:exon42:c.5672-1G>T;ENST00000578780:exon4:c.373-1G>T;ENST00000454359:exon47:c.6333-1G>T;ENST00000581161:exon47:c.6239-1G>T)	.	.	0.999977737232585	0.916
18	67673721	C	G	18	70006485	y	y	splicing	RTTN(NM_173630:exon48:c.6422-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6422-1G>C;ENST00000583043:exon42:c.5672-1G>C;ENST00000578780:exon4:c.373-1G>C;ENST00000454359:exon47:c.6333-1G>C;ENST00000581161:exon47:c.6239-1G>C)	.	.	0.999977149469629	0.892
18	67673721	C	T	18	70006485	y	y	splicing	RTTN(NM_173630:exon48:c.6422-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6422-1G>A;ENST00000583043:exon42:c.5672-1G>A;ENST00000578780:exon4:c.373-1G>A;ENST00000454359:exon47:c.6333-1G>A;ENST00000581161:exon47:c.6239-1G>A)	.	.	0.999976462097341	0.916
18	67673722	T	A	18	70006486	y	y	splicing	RTTN(NM_173630:exon48:c.6422-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6422-2A>T;ENST00000583043:exon42:c.5672-2A>T;ENST00000578780:exon4:c.373-2A>T;ENST00000454359:exon47:c.6333-2A>T;ENST00000581161:exon47:c.6239-2A>T)	.	.	0.999987081418502	0.908
18	67673722	T	C	18	70006486	y	y	splicing	RTTN(NM_173630:exon48:c.6422-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6422-2A>G;ENST00000583043:exon42:c.5672-2A>G;ENST00000578780:exon4:c.373-2A>G;ENST00000454359:exon47:c.6333-2A>G;ENST00000581161:exon47:c.6239-2A>G)	.	.	0.999979845540231	0.886
18	67673722	T	G	18	70006486	y	y	splicing	RTTN(NM_173630:exon48:c.6422-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon48:c.6422-2A>C;ENST00000583043:exon42:c.5672-2A>C;ENST00000578780:exon4:c.373-2A>C;ENST00000454359:exon47:c.6333-2A>C;ENST00000581161:exon47:c.6239-2A>C)	.	.	0.999979845540231	0.884
18	67673723	A	C	18	70006487	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.596727335412696	0.6
18	67673723	A	G	18	70006487	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.08012651302433E-4	0.018
18	67673723	A	T	18	70006487	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00255079258070137	0.154
18	67673724	A	C	18	70006488	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00412842578420813	0.056
18	67673724	A	G	18	70006488	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.37365863657854E-4	0.094
18	67673724	A	T	18	70006488	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.96126119220622E-4	0.01
18	67673725	A	C	18	70006489	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.860000854275374	0.55
18	67673725	A	G	18	70006489	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.48687525141597E-4	0.128
18	67673725	A	T	18	70006489	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.749188695435931	0.526
18	67673726	A	C	18	70006490	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0449532270725844	0.44
18	67673726	A	G	18	70006490	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.02571760693961E-5	0.034
18	67673726	A	T	18	70006490	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.127432108994633	0.426
18	67673727	A	C	18	70006491	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999810916084136	0.98
18	67673727	A	G	18	70006491	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.88241470725397E-4	0.086
18	67673727	A	T	18	70006491	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0291455668717991	0.192
18	67673728	T	A	18	70006492	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.01903598953791E-5	0.012
18	67673728	T	C	18	70006492	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.05791448610096E-5	0.012
18	67673728	T	G	18	70006492	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.01903598953791E-5	0.006
18	67673729	G	A	18	70006493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.48450129308462E-5	0.0
18	67673729	G	C	18	70006493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00104880102078929	0.038
18	67673729	G	T	18	70006493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.1714417794474E-4	0.066
18	67673730	A	C	18	70006494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0443519909761189	0.316
18	67673730	A	G	18	70006494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00113324103494916	0.102
18	67673730	A	T	18	70006494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0470756416022399	0.326
18	67673731	A	C	18	70006495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.35746702251239	0.504
18	67673731	A	G	18	70006495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0186975780171229	0.294
18	67673731	A	T	18	70006495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.809678324258784	0.6
18	67673732	C	A	18	70006496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.80096912210516E-5	0.016
18	67673732	C	G	18	70006496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.17675445261109E-5	0.01
18	67673732	C	T	18	70006496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.67727381144038E-4	0.044
18	67684635	A	C	18	70017399	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.38498433933773E-4	0.002
18	67684635	A	G	18	70017399	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.37184549953077E-4	0.002
18	67684635	A	T	18	70017399	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.5480235718294E-5	0.0
18	67684636	A	C	18	70017400	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.22021639175264E-5	0.0
18	67684636	A	G	18	70017400	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.25939303185057E-5	0.024
18	67684636	A	T	18	70017400	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.05808194911997E-5	0.0
18	67684637	A	C	18	70017401	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.73450533949199E-4	0.066
18	67684637	A	G	18	70017401	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00465629215750635	0.08
18	67684637	A	T	18	70017401	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00232824245817795	0.086
18	67684638	C	A	18	70017402	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997644789579617	0.85
18	67684638	C	G	18	70017402	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997405291359326	0.838
18	67684638	C	T	18	70017402	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998438129675813	0.874
18	67684639	T	A	18	70017403	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.523014038905046	0.478
18	67684639	T	C	18	70017403	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.371488066108153	0.49
18	67684639	T	G	18	70017403	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.277873131583816	0.364
18	67684640	T	A	18	70017404	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.819554329045258	0.528
18	67684640	T	C	18	70017404	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.17261225135753E-4	0.042
18	67684640	T	G	18	70017404	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.980989973217558	0.696
18	67684641	A	C	18	70017405	y	y	splicing	RTTN(NM_173630:exon47:c.6421+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6421+2T>G;ENST00000583043:exon41:c.5671+2T>G;ENST00000578780:exon3:c.372+2T>G;ENST00000454359:exon46:c.6332+2T>G;ENST00000581161:exon46:c.6238+2T>G)	.	.	0.999993519952936	0.928
18	67684641	A	G	18	70017405	y	y	splicing	RTTN(NM_173630:exon47:c.6421+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6421+2T>C;ENST00000583043:exon41:c.5671+2T>C;ENST00000578780:exon3:c.372+2T>C;ENST00000454359:exon46:c.6332+2T>C;ENST00000581161:exon46:c.6238+2T>C)	.	.	0.989490785358834	0.602
18	67684641	A	T	18	70017405	y	y	splicing	RTTN(NM_173630:exon47:c.6421+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6421+2T>A;ENST00000583043:exon41:c.5671+2T>A;ENST00000578780:exon3:c.372+2T>A;ENST00000454359:exon46:c.6332+2T>A;ENST00000581161:exon46:c.6238+2T>A)	.	.	0.999993519952936	0.928
18	67684642	C	A	18	70017406	y	y	splicing	RTTN(NM_173630:exon47:c.6421+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6421+1G>T;ENST00000583043:exon41:c.5671+1G>T;ENST00000578780:exon3:c.372+1G>T;ENST00000454359:exon46:c.6332+1G>T;ENST00000581161:exon46:c.6238+1G>T)	.	.	0.999988247793601	0.924
18	67684642	C	G	18	70017406	y	y	splicing	RTTN(NM_173630:exon47:c.6421+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6421+1G>C;ENST00000583043:exon41:c.5671+1G>C;ENST00000578780:exon3:c.372+1G>C;ENST00000454359:exon46:c.6332+1G>C;ENST00000581161:exon46:c.6238+1G>C)	.	.	0.999988247793601	0.924
18	67684642	C	T	18	70017406	y	y	splicing	RTTN(NM_173630:exon47:c.6421+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6421+1G>A;ENST00000583043:exon41:c.5671+1G>A;ENST00000578780:exon3:c.372+1G>A;ENST00000454359:exon46:c.6332+1G>A;ENST00000581161:exon46:c.6238+1G>A)	.	.	0.999988247793601	0.924
18	67684643	C	A	18	70017407	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon46:c.G6421T:p.E2141X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon46:c.G6421T:p.E2141X;	0.999763739021176	0.934
18	67684643	C	G	18	70017407	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.G6421C:p.E2141Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.G6421C:p.E2141Q;	0.99963822144529	0.884
18	67684643	C	T	18	70017407	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.G6421A:p.E2141K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.G6421A:p.E2141K;	0.998582575802431	0.838
18	67684644	A	C	18	70017408	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.T6420G:p.N2140K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.T6420G:p.N2140K;	0.00130457912429249	0.17
18	67684644	A	G	18	70017408	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon46:c.T6420C:p.N2140N;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.T6420C:p.N2140N;	5.67531763365663E-4	0.024
18	67684644	A	T	18	70017408	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.T6420A:p.N2140K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.T6420A:p.N2140K;	3.56458477764672E-4	0.326
18	67684645	T	A	18	70017409	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.A6419T:p.N2140I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.A6419T:p.N2140I;	0.0871146942882789	0.22
18	67684645	T	C	18	70017409	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.A6419G:p.N2140S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.A6419G:p.N2140S;	0.00709836155454435	0.076
18	67684645	T	G	18	70017409	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.A6419C:p.N2140T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.A6419C:p.N2140T;	0.0868202489657023	0.182
18	67684909	C	A	18	70017673	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.G6155T:p.S2052I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.G6155T:p.S2052I;	0.00809147164558753	0.148
18	67684909	C	G	18	70017673	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.G6155C:p.S2052T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.G6155C:p.S2052T;	2.51678844731506E-4	0.008
18	67684909	C	T	18	70017673	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.G6155A:p.S2052N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.G6155A:p.S2052N;	2.94985683931836E-4	0.018
18	67684910	T	A	18	70017674	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.A6154T:p.S2052C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.A6154T:p.S2052C;	0.0368462352269832	0.232
18	67684910	T	C	18	70017674	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.A6154G:p.S2052G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.A6154G:p.S2052G;	0.0487664081408572	0.358
18	67684910	T	G	18	70017674	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon46:c.A6154C:p.S2052R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon46:c.A6154C:p.S2052R;	0.820693167818321	0.47
18	67684911	C	A	18	70017675	y	y	splicing	RTTN(NM_173630:exon47:c.6154-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6154-1G>T;ENST00000578780:exon3:c.105-1G>T;ENST00000454359:exon46:c.6065-1G>T;ENST00000581161:exon46:c.5971-1G>T)	.	.	0.999989072007339	0.932
18	67684911	C	G	18	70017675	y	y	splicing	RTTN(NM_173630:exon47:c.6154-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6154-1G>C;ENST00000578780:exon3:c.105-1G>C;ENST00000454359:exon46:c.6065-1G>C;ENST00000581161:exon46:c.5971-1G>C)	.	.	0.999989072007339	0.922
18	67684911	C	T	18	70017675	y	y	splicing	RTTN(NM_173630:exon47:c.6154-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6154-1G>A;ENST00000578780:exon3:c.105-1G>A;ENST00000454359:exon46:c.6065-1G>A;ENST00000581161:exon46:c.5971-1G>A)	.	.	0.999989072007339	0.932
18	67684912	T	A	18	70017676	y	y	splicing	RTTN(NM_173630:exon47:c.6154-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6154-2A>T;ENST00000578780:exon3:c.105-2A>T;ENST00000454359:exon46:c.6065-2A>T;ENST00000581161:exon46:c.5971-2A>T)	.	.	0.999988247793601	0.93
18	67684912	T	C	18	70017676	y	y	splicing	RTTN(NM_173630:exon47:c.6154-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6154-2A>G;ENST00000578780:exon3:c.105-2A>G;ENST00000454359:exon46:c.6065-2A>G;ENST00000581161:exon46:c.5971-2A>G)	.	.	0.999988247793601	0.928
18	67684912	T	G	18	70017676	y	y	splicing	RTTN(NM_173630:exon47:c.6154-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon47:c.6154-2A>C;ENST00000578780:exon3:c.105-2A>C;ENST00000454359:exon46:c.6065-2A>C;ENST00000581161:exon46:c.5971-2A>C)	.	.	0.999988247793601	0.928
18	67684913	G	A	18	70017677	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0106016014709597	0.022
18	67684913	G	C	18	70017677	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999814729031472	0.984
18	67684913	G	T	18	70017677	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.970709947232396	0.806
18	67684914	T	A	18	70017678	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.47361240088194E-4	0.024
18	67684914	T	C	18	70017678	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.26821009083741E-5	0.014
18	67684914	T	G	18	70017678	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.12770252529262E-4	0.0
18	67684915	G	A	18	70017679	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.65248193576508E-4	0.058
18	67684915	G	C	18	70017679	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0244523303245392	0.126
18	67684915	G	T	18	70017679	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0136334731707179	0.088
18	67684916	G	A	18	70017680	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.69700232530564E-4	0.058
18	67684916	G	C	18	70017680	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.210480824534217	0.374
18	67684916	G	T	18	70017680	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0201218369265484	0.348
18	67684917	A	C	18	70017681	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997717079211913	0.954
18	67684917	A	G	18	70017681	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.52705052704868E-4	0.002
18	67684917	A	T	18	70017681	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.022598240393596	0.104
18	67684918	T	A	18	70017682	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.91951932692011E-5	0.0
18	67684918	T	C	18	70017682	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.42526114426597E-5	0.0
18	67684918	T	G	18	70017682	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.12877220444828E-5	0.002
18	67684919	A	C	18	70017683	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.072642932274297	0.234
18	67684919	A	G	18	70017683	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.81392859900316E-4	0.05
18	67684919	A	T	18	70017683	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0539892864794871	0.228
18	67684920	A	C	18	70017684	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0634306420184279	0.326
18	67684920	A	G	18	70017684	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.09943278920868E-5	0.0
18	67684920	A	T	18	70017684	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0729380567522297	0.308
18	67684921	A	C	18	70017685	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996475156473139	0.92
18	67684921	A	G	18	70017685	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00364109320887627	0.056
18	67684921	A	T	18	70017685	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.244316280114492	0.36
18	67684922	T	A	18	70017686	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.78089872013049E-5	0.0
18	67684922	T	C	18	70017686	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.65047732819488E-5	0.01
18	67684922	T	G	18	70017686	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.63065284904611E-6	0.0
18	67687843	G	A	18	70020607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.98378059096236E-4	0.004
18	67687843	G	C	18	70020607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.19534886741879E-4	0.002
18	67687843	G	T	18	70020607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.71797456865261E-4	0.004
18	67687844	T	A	18	70020608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.58986279437936E-5	0.0
18	67687844	T	C	18	70020608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.33141600191487E-5	0.0
18	67687844	T	G	18	70020608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.33141600191487E-5	0.0
18	67687845	G	A	18	70020609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.26749103011622E-5	0.002
18	67687845	G	C	18	70020609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.23634585132325E-5	0.008
18	67687845	G	T	18	70020609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.06784583529339E-4	0.0
18	67687846	C	A	18	70020610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999541104434854	0.632
18	67687846	C	G	18	70020610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.994743015481121	0.57
18	67687846	C	T	18	70020610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996378941064166	0.596
18	67687847	G	A	18	70020611	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.49121758659185E-5	0.002
18	67687847	G	C	18	70020611	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.16880320329094E-5	0.006
18	67687847	G	T	18	70020611	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.88808202607059E-5	0.02
18	67687848	T	A	18	70020612	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.962209087437384	0.582
18	67687848	T	C	18	70020612	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00744360447405481	0.268
18	67687848	T	G	18	70020612	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.926107555714291	0.668
18	67687849	A	C	18	70020613	y	y	splicing	RTTN(NM_173630:exon46:c.6153+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.6153+2T>G;ENST00000583043:exon40:c.5434+2T>G;ENST00000578780:exon2:c.104+2T>G;ENST00000454359:exon45:c.6064+2T>G;ENST00000581161:exon45:c.5970+2T>G)	.	.	0.999988247793601	0.93
18	67687849	A	G	18	70020613	y	y	splicing	RTTN(NM_173630:exon46:c.6153+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.6153+2T>C;ENST00000583043:exon40:c.5434+2T>C;ENST00000578780:exon2:c.104+2T>C;ENST00000454359:exon45:c.6064+2T>C;ENST00000581161:exon45:c.5970+2T>C)	.	.	0.996388929962285	0.702
18	67687849	A	T	18	70020613	y	y	splicing	RTTN(NM_173630:exon46:c.6153+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.6153+2T>A;ENST00000583043:exon40:c.5434+2T>A;ENST00000578780:exon2:c.104+2T>A;ENST00000454359:exon45:c.6064+2T>A;ENST00000581161:exon45:c.5970+2T>A)	.	.	0.999988247793601	0.93
18	67687850	C	A	18	70020614	y	y	splicing	RTTN(NM_173630:exon46:c.6153+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.6153+1G>T;ENST00000583043:exon40:c.5434+1G>T;ENST00000578780:exon2:c.104+1G>T;ENST00000454359:exon45:c.6064+1G>T;ENST00000581161:exon45:c.5970+1G>T)	.	.	0.999990361384395	0.938
18	67687850	C	G	18	70020614	y	y	splicing	RTTN(NM_173630:exon46:c.6153+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.6153+1G>C;ENST00000583043:exon40:c.5434+1G>C;ENST00000578780:exon2:c.104+1G>C;ENST00000454359:exon45:c.6064+1G>C;ENST00000581161:exon45:c.5970+1G>C)	.	.	0.999990361384395	0.938
18	67687850	C	T	18	70020614	y	y	splicing	RTTN(NM_173630:exon46:c.6153+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.6153+1G>A;ENST00000583043:exon40:c.5434+1G>A;ENST00000578780:exon2:c.104+1G>A;ENST00000454359:exon45:c.6064+1G>A;ENST00000581161:exon45:c.5970+1G>A)	.	.	0.999990361384395	0.938
18	67687851	C	A	18	70020615	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.G6153T:p.K2051N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.G6153T:p.K2051N;	0.999980167871232	0.996
18	67687851	C	G	18	70020615	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.G6153C:p.K2051N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.G6153C:p.K2051N;	0.999988198463766	0.976
18	67687851	C	T	18	70020615	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon45:c.G6153A:p.K2051K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.G6153A:p.K2051K;	0.999844089055351	0.998
18	67687852	T	A	18	70020616	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.A6152T:p.K2051M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.A6152T:p.K2051M;	0.997998520642859	0.924
18	67687852	T	C	18	70020616	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.A6152G:p.K2051R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.A6152G:p.K2051R;	0.999070313072581	0.96
18	67687852	T	G	18	70020616	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.A6152C:p.K2051T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.A6152C:p.K2051T;	0.988996879376687	0.858
18	67687853	T	A	18	70020617	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon45:c.A6151T:p.K2051X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon45:c.A6151T:p.K2051X;	0.343302435265202	0.64
18	67687853	T	C	18	70020617	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.A6151G:p.K2051E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.A6151G:p.K2051E;	0.00614591413726258	0.128
18	67687853	T	G	18	70020617	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.A6151C:p.K2051Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.A6151C:p.K2051Q;	0.0387373462435785	0.258
18	67688052	A	C	18	70020816	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon45:c.T5952G:p.G1984G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.T5952G:p.G1984G;	3.26875002080885E-4	0.152
18	67688052	A	G	18	70020816	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon45:c.T5952C:p.G1984G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.T5952C:p.G1984G;	4.01487656392231E-4	0.08
18	67688052	A	T	18	70020816	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon45:c.T5952A:p.G1984G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.T5952A:p.G1984G;	3.01971113803011E-4	0.132
18	67688053	C	A	18	70020817	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.G5951T:p.G1984V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.G5951T:p.G1984V;	0.995997157940543	0.944
18	67688053	C	G	18	70020817	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.G5951C:p.G1984A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.G5951C:p.G1984A;	0.138507753117555	0.542
18	67688053	C	T	18	70020817	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon45:c.G5951A:p.G1984D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon45:c.G5951A:p.G1984D;	0.759158322621431	0.624
18	67688054	C	A	18	70020818	y	y	splicing	RTTN(NM_173630:exon46:c.5951-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.5951-1G>T;ENST00000583043:exon40:c.5232-1G>T;ENST00000454359:exon45:c.5862-1G>T;ENST00000581161:exon45:c.5768-1G>T)	.	.	0.999993444959628	0.928
18	67688054	C	G	18	70020818	y	y	splicing	RTTN(NM_173630:exon46:c.5951-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.5951-1G>C;ENST00000583043:exon40:c.5232-1G>C;ENST00000454359:exon45:c.5862-1G>C;ENST00000581161:exon45:c.5768-1G>C)	.	.	0.999993444959628	0.928
18	67688054	C	T	18	70020818	y	y	splicing	RTTN(NM_173630:exon46:c.5951-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.5951-1G>A;ENST00000583043:exon40:c.5232-1G>A;ENST00000454359:exon45:c.5862-1G>A;ENST00000581161:exon45:c.5768-1G>A)	.	.	0.999993444959628	0.926
18	67688055	T	A	18	70020819	y	y	splicing	RTTN(NM_173630:exon46:c.5951-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.5951-2A>T;ENST00000583043:exon40:c.5232-2A>T;ENST00000454359:exon45:c.5862-2A>T;ENST00000581161:exon45:c.5768-2A>T)	.	.	0.999992007541056	0.92
18	67688055	T	C	18	70020819	y	y	splicing	RTTN(NM_173630:exon46:c.5951-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.5951-2A>G;ENST00000583043:exon40:c.5232-2A>G;ENST00000454359:exon45:c.5862-2A>G;ENST00000581161:exon45:c.5768-2A>G)	.	.	0.999992007541056	0.928
18	67688055	T	G	18	70020819	y	y	splicing	RTTN(NM_173630:exon46:c.5951-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon46:c.5951-2A>C;ENST00000583043:exon40:c.5232-2A>C;ENST00000454359:exon45:c.5862-2A>C;ENST00000581161:exon45:c.5768-2A>C)	.	.	0.999992007541056	0.928
18	67688056	T	A	18	70020820	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.90287857227361E-4	0.17
18	67688056	T	C	18	70020820	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.144456194722749	0.422
18	67688056	T	G	18	70020820	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.40703397511576E-4	0.126
18	67688057	C	A	18	70020821	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.96644018522759E-4	0.064
18	67688057	C	G	18	70020821	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.40285088489874E-5	0.0
18	67688057	C	T	18	70020821	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.48202836040652E-5	0.046
18	67688058	A	C	18	70020822	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.971573639857406	0.866
18	67688058	A	G	18	70020822	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0401653882840775	0.112
18	67688058	A	T	18	70020822	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999885325252148	0.966
18	67688059	A	C	18	70020823	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.72060162091786	0.658
18	67688059	A	G	18	70020823	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.46050540713509E-4	0.04
18	67688059	A	T	18	70020823	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.846168697098601	0.66
18	67688060	A	C	18	70020824	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.226232594780941	0.53
18	67688060	A	G	18	70020824	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.05828891570351E-4	0.07
18	67688060	A	T	18	70020824	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0907095403232241	0.55
18	67688061	A	C	18	70020825	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.89714076489781E-4	0.096
18	67688061	A	G	18	70020825	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.33080592111594E-5	0.008
18	67688061	A	T	18	70020825	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00194208371520101	0.1
18	67688062	A	C	18	70020826	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999918236965708	0.906
18	67688062	A	G	18	70020826	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.64597674598921E-5	0.12
18	67688062	A	T	18	70020826	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0101432494974278	0.346
18	67688063	T	A	18	70020827	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.05553213193938E-5	0.0
18	67688063	T	C	18	70020827	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.70936667056406E-5	0.0
18	67688063	T	G	18	70020827	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.20483758077956E-5	0.0
18	67688064	A	C	18	70020828	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.266401603865647	0.49
18	67688064	A	G	18	70020828	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0350004290325949	0.212
18	67688064	A	T	18	70020828	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.467841693097391	0.646
18	67688065	A	C	18	70020829	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.177579836931883	0.366
18	67688065	A	G	18	70020829	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00125815860754516	0.042
18	67688065	A	T	18	70020829	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0225562972424529	0.338
18	67691950	C	A	18	70024714	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.34725483120292E-5	0.0
18	67691950	C	G	18	70024714	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.26569577813692E-5	0.0
18	67691950	C	T	18	70024714	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.30675687931358E-5	0.0
18	67691951	C	A	18	70024715	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.40214921479095E-4	0.0
18	67691951	C	G	18	70024715	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.21204843560614E-4	0.004
18	67691951	C	T	18	70024715	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.59018130916526E-4	0.0
18	67691952	T	A	18	70024716	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.33169849309971E-5	0.032
18	67691952	T	C	18	70024716	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.54713154426972E-4	0.0
18	67691952	T	G	18	70024716	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00111590919826248	0.054
18	67691953	A	C	18	70024717	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.17601227523388E-5	0.002
18	67691953	A	G	18	70024717	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.4857117715326E-5	0.0
18	67691953	A	T	18	70024717	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.87234128343485E-5	0.012
18	67691954	T	A	18	70024718	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.981780179856534	0.788
18	67691954	T	C	18	70024718	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999264828393481	0.856
18	67691954	T	G	18	70024718	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.977637886985515	0.682
18	67691955	T	A	18	70024719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999946536820739	0.978
18	67691955	T	C	18	70024719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999898651388741	0.916
18	67691955	T	G	18	70024719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999925126995	0.946
18	67691956	A	C	18	70024720	y	y	splicing	RTTN(NM_173630:exon45:c.5950+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5950+2T>G;ENST00000583043:exon39:c.5231+2T>G;ENST00000454359:exon44:c.5861+2T>G;ENST00000581161:exon44:c.5767+2T>G)	.	.	0.99994568797423	0.944
18	67691956	A	G	18	70024720	y	y	splicing	RTTN(NM_173630:exon45:c.5950+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5950+2T>C;ENST00000583043:exon39:c.5231+2T>C;ENST00000454359:exon44:c.5861+2T>C;ENST00000581161:exon44:c.5767+2T>C)	.	.	0.999604035398332	0.892
18	67691956	A	T	18	70024720	y	y	splicing	RTTN(NM_173630:exon45:c.5950+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5950+2T>A;ENST00000583043:exon39:c.5231+2T>A;ENST00000454359:exon44:c.5861+2T>A;ENST00000581161:exon44:c.5767+2T>A)	.	.	0.999978952611685	0.946
18	67691957	C	A	18	70024721	y	y	splicing	RTTN(NM_173630:exon45:c.5950+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5950+1G>T;ENST00000583043:exon39:c.5231+1G>T;ENST00000454359:exon44:c.5861+1G>T;ENST00000581161:exon44:c.5767+1G>T)	.	.	0.999976137096505	0.946
18	67691957	C	G	18	70024721	y	y	splicing	RTTN(NM_173630:exon45:c.5950+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5950+1G>C;ENST00000583043:exon39:c.5231+1G>C;ENST00000454359:exon44:c.5861+1G>C;ENST00000581161:exon44:c.5767+1G>C)	.	.	0.999976137096505	0.94
18	67691957	C	T	18	70024721	y	y	splicing	RTTN(NM_173630:exon45:c.5950+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5950+1G>A;ENST00000583043:exon39:c.5231+1G>A;ENST00000454359:exon44:c.5861+1G>A;ENST00000581161:exon44:c.5767+1G>A)	.	.	0.999986675681007	0.946
18	67691958	C	A	18	70024722	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.G5950T:p.G1984C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.G5950T:p.G1984C;	0.999985094537663	0.996
18	67691958	C	G	18	70024722	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.G5950C:p.G1984R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.G5950C:p.G1984R;	0.999997083740624	1.0
18	67691958	C	T	18	70024722	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.G5950A:p.G1984S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.G5950A:p.G1984S;	0.999996748057127	1.0
18	67691959	A	C	18	70024723	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.T5949G:p.N1983K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.T5949G:p.N1983K;	4.26185569126394E-5	0.036
18	67691959	A	G	18	70024723	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon44:c.T5949C:p.N1983N;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.T5949C:p.N1983N;	1.24340559303909E-5	0.0
18	67691959	A	T	18	70024723	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.T5949A:p.N1983K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.T5949A:p.N1983K;	1.23816153456403E-4	0.076
18	67691960	T	A	18	70024724	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.A5948T:p.N1983I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.A5948T:p.N1983I;	0.00210601152308346	0.166
18	67691960	T	C	18	70024724	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.A5948G:p.N1983S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.A5948G:p.N1983S;	4.97112907704697E-4	0.046
18	67691960	T	G	18	70024724	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.A5948C:p.N1983T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.A5948C:p.N1983T;	3.35569042383448E-5	0.036
18	67692083	T	A	18	70024847	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.A5825T:p.E1942V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.A5825T:p.E1942V;	4.86302501557657E-5	0.0
18	67692083	T	C	18	70024847	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.A5825G:p.E1942G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.A5825G:p.E1942G;	9.45015823084804E-5	0.026
18	67692083	T	G	18	70024847	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.A5825C:p.E1942A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.A5825C:p.E1942A;	6.77811162545853E-5	0.03
18	67692084	C	A	18	70024848	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon44:c.G5824T:p.E1942X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon44:c.G5824T:p.E1942X;	0.993433288279704	0.84
18	67692084	C	G	18	70024848	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.G5824C:p.E1942Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.G5824C:p.E1942Q;	0.0476629570262201	0.296
18	67692084	C	T	18	70024848	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon44:c.G5824A:p.E1942K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon44:c.G5824A:p.E1942K;	0.00139728513729472	0.174
18	67692085	C	A	18	70024849	y	y	splicing	RTTN(NM_173630:exon45:c.5824-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5824-1G>T;ENST00000583043:exon39:c.5105-1G>T;ENST00000454359:exon44:c.5735-1G>T;ENST00000581161:exon44:c.5641-1G>T)	.	.	0.999958003653399	0.858
18	67692085	C	G	18	70024849	y	y	splicing	RTTN(NM_173630:exon45:c.5824-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5824-1G>C;ENST00000583043:exon39:c.5105-1G>C;ENST00000454359:exon44:c.5735-1G>C;ENST00000581161:exon44:c.5641-1G>C)	.	.	0.999958003653399	0.838
18	67692085	C	T	18	70024849	y	y	splicing	RTTN(NM_173630:exon45:c.5824-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5824-1G>A;ENST00000583043:exon39:c.5105-1G>A;ENST00000454359:exon44:c.5735-1G>A;ENST00000581161:exon44:c.5641-1G>A)	.	.	0.999965143305126	0.86
18	67692086	T	A	18	70024850	y	y	splicing	RTTN(NM_173630:exon45:c.5824-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5824-2A>T;ENST00000583043:exon39:c.5105-2A>T;ENST00000454359:exon44:c.5735-2A>T;ENST00000581161:exon44:c.5641-2A>T)	.	.	0.999962958601995	0.836
18	67692086	T	C	18	70024850	y	y	splicing	RTTN(NM_173630:exon45:c.5824-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5824-2A>G;ENST00000583043:exon39:c.5105-2A>G;ENST00000454359:exon44:c.5735-2A>G;ENST00000581161:exon44:c.5641-2A>G)	.	.	0.999962958601995	0.798
18	67692086	T	G	18	70024850	y	y	splicing	RTTN(NM_173630:exon45:c.5824-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon45:c.5824-2A>C;ENST00000583043:exon39:c.5105-2A>C;ENST00000454359:exon44:c.5735-2A>C;ENST00000581161:exon44:c.5641-2A>C)	.	.	0.999962958601995	0.798
18	67692087	G	A	18	70024851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.76019121796414E-4	0.072
18	67692087	G	C	18	70024851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999752176981175	0.9
18	67692087	G	T	18	70024851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0800037360227927	0.446
18	67692088	T	A	18	70024852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.92052432566392E-5	0.026
18	67692088	T	C	18	70024852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.389725735410775	0.566
18	67692088	T	G	18	70024852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.20735989430601E-5	0.01
18	67692089	T	A	18	70024853	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.24357514375054E-5	0.0
18	67692089	T	C	18	70024853	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.34541281644475E-5	0.012
18	67692089	T	G	18	70024853	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.25635395667437E-6	0.0
18	67692090	G	A	18	70024854	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.6228536255478E-5	0.0
18	67692090	G	C	18	70024854	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.6318169543961E-4	0.026
18	67692090	G	T	18	70024854	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.11832616363949E-4	0.046
18	67692091	A	C	18	70024855	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.95113277213326E-4	0.102
18	67692091	A	G	18	70024855	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.50099355946248E-6	0.006
18	67692091	A	T	18	70024855	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.95113277213326E-4	0.092
18	67692092	A	C	18	70024856	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.86326757586968E-5	0.016
18	67692092	A	G	18	70024856	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.88521936825801E-6	0.0
18	67692092	A	T	18	70024856	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.0257401409675E-4	0.012
18	67692093	G	A	18	70024857	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.48825058396372E-5	0.0
18	67692093	G	C	18	70024857	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.70516524438331E-4	0.014
18	67692093	G	T	18	70024857	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.19713407312983E-4	0.048
18	67692094	G	A	18	70024858	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.27866702591957E-5	0.0
18	67692094	G	C	18	70024858	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.59339142727254E-4	0.05
18	67692094	G	T	18	70024858	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.7632344182679E-4	0.1
18	67692095	A	C	18	70024859	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.61048617431156E-4	0.114
18	67692095	A	G	18	70024859	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.0819713573478E-4	0.04
18	67692095	A	T	18	70024859	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00168933414477131	0.194
18	67692096	A	C	18	70024860	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.06829292840752E-4	0.084
18	67692096	A	G	18	70024860	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.07722019618439E-4	0.008
18	67692096	A	T	18	70024860	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.60179472004542E-4	0.12
18	67695952	C	A	18	70028716	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.00370153794381E-4	0.006
18	67695952	C	G	18	70028716	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.13363459128741E-5	0.002
18	67695952	C	T	18	70028716	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.36191416255232E-5	0.006
18	67695953	T	A	18	70028717	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.61801062146073E-4	0.0
18	67695953	T	C	18	70028717	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.53403481595532E-5	0.0
18	67695953	T	G	18	70028717	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.53403481595532E-5	0.0
18	67695954	A	C	18	70028718	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.41031031480438	0.506
18	67695954	A	G	18	70028718	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.673702461613198	0.562
18	67695954	A	T	18	70028718	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.706690350349784	0.484
18	67695955	C	A	18	70028719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999346017368987	0.808
18	67695955	C	G	18	70028719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997118363000769	0.826
18	67695955	C	T	18	70028719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.991805641829821	0.884
18	67695956	T	A	18	70028720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.65302118559905	0.52
18	67695956	T	C	18	70028720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.787595964694929	0.658
18	67695956	T	G	18	70028720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.634384545125513	0.488
18	67695957	T	A	18	70028721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.945213090741862	0.694
18	67695957	T	C	18	70028721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0296067178156943	0.27
18	67695957	T	G	18	70028721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998763499242858	0.81
18	67695958	A	C	18	70028722	y	y	splicing	RTTN(NM_173630:exon44:c.5823+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5823+2T>G;ENST00000583043:exon38:c.5104+2T>G;ENST00000454359:exon43:c.5734+2T>G;ENST00000581161:exon43:c.5640+2T>G)	.	.	0.999814500365738	0.746
18	67695958	A	G	18	70028722	y	y	splicing	RTTN(NM_173630:exon44:c.5823+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5823+2T>C;ENST00000583043:exon38:c.5104+2T>C;ENST00000454359:exon43:c.5734+2T>C;ENST00000581161:exon43:c.5640+2T>C)	.	.	0.756951776792188	0.478
18	67695958	A	T	18	70028722	y	y	splicing	RTTN(NM_173630:exon44:c.5823+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5823+2T>A;ENST00000583043:exon38:c.5104+2T>A;ENST00000454359:exon43:c.5734+2T>A;ENST00000581161:exon43:c.5640+2T>A)	.	.	0.999814500365738	0.742
18	67695959	C	A	18	70028723	y	y	splicing	RTTN(NM_173630:exon44:c.5823+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5823+1G>T;ENST00000583043:exon38:c.5104+1G>T;ENST00000454359:exon43:c.5734+1G>T;ENST00000581161:exon43:c.5640+1G>T)	.	.	0.999960606724575	0.766
18	67695959	C	G	18	70028723	y	y	splicing	RTTN(NM_173630:exon44:c.5823+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5823+1G>C;ENST00000583043:exon38:c.5104+1G>C;ENST00000454359:exon43:c.5734+1G>C;ENST00000581161:exon43:c.5640+1G>C)	.	.	0.9999675440118	0.766
18	67695959	C	T	18	70028723	y	y	splicing	RTTN(NM_173630:exon44:c.5823+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5823+1G>A;ENST00000583043:exon38:c.5104+1G>A;ENST00000454359:exon43:c.5734+1G>A;ENST00000581161:exon43:c.5640+1G>A)	.	.	0.999960606724575	0.762
18	67695960	T	A	18	70028724	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5823T:p.K1941N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5823T:p.K1941N;	0.0041240433453203	0.076
18	67695960	T	C	18	70028724	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon43:c.A5823G:p.K1941K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5823G:p.K1941K;	4.55566589621066E-5	0.08
18	67695960	T	G	18	70028724	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5823C:p.K1941N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5823C:p.K1941N;	7.74705975160716E-4	0.096
18	67695961	T	A	18	70028725	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5822T:p.K1941I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5822T:p.K1941I;	0.997502513660682	0.952
18	67695961	T	C	18	70028725	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5822G:p.K1941R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5822G:p.K1941R;	0.981379803525671	0.934
18	67695961	T	G	18	70028725	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5822C:p.K1941T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5822C:p.K1941T;	0.98724008291308	0.94
18	67695962	T	A	18	70028726	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon43:c.A5821T:p.K1941X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon43:c.A5821T:p.K1941X;	0.049826481114636	0.41
18	67695962	T	C	18	70028726	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5821G:p.K1941E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5821G:p.K1941E;	1.50901350289424E-4	0.03
18	67695962	T	G	18	70028726	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5821C:p.K1941Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5821C:p.K1941Q;	3.11906187405006E-5	0.002
18	67696036	T	A	18	70028800	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5747T:p.E1916V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5747T:p.E1916V;	0.727481592619876	0.666
18	67696036	T	C	18	70028800	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5747G:p.E1916G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5747G:p.E1916G;	0.807747364793496	0.79
18	67696036	T	G	18	70028800	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.A5747C:p.E1916A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.A5747C:p.E1916A;	0.865995209573014	0.864
18	67696037	C	A	18	70028801	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon43:c.G5746T:p.E1916X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon43:c.G5746T:p.E1916X;	0.999940760279909	0.996
18	67696037	C	G	18	70028801	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.G5746C:p.E1916Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.G5746C:p.E1916Q;	0.999877530865235	0.972
18	67696037	C	T	18	70028801	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon43:c.G5746A:p.E1916K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon43:c.G5746A:p.E1916K;	0.998482229459575	0.92
18	67696038	C	A	18	70028802	y	y	splicing	RTTN(NM_173630:exon44:c.5746-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5746-1G>T;ENST00000583043:exon38:c.5027-1G>T;ENST00000454359:exon43:c.5657-1G>T;ENST00000581161:exon43:c.5563-1G>T)	.	.	0.999981760802075	0.94
18	67696038	C	G	18	70028802	y	y	splicing	RTTN(NM_173630:exon44:c.5746-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5746-1G>C;ENST00000583043:exon38:c.5027-1G>C;ENST00000454359:exon43:c.5657-1G>C;ENST00000581161:exon43:c.5563-1G>C)	.	.	0.999981760802075	0.94
18	67696038	C	T	18	70028802	y	y	splicing	RTTN(NM_173630:exon44:c.5746-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5746-1G>A;ENST00000583043:exon38:c.5027-1G>A;ENST00000454359:exon43:c.5657-1G>A;ENST00000581161:exon43:c.5563-1G>A)	.	.	0.999981760802075	0.936
18	67696039	T	A	18	70028803	y	y	splicing	RTTN(NM_173630:exon44:c.5746-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5746-2A>T;ENST00000583043:exon38:c.5027-2A>T;ENST00000454359:exon43:c.5657-2A>T;ENST00000581161:exon43:c.5563-2A>T)	.	.	0.999989917668626	0.926
18	67696039	T	C	18	70028803	y	y	splicing	RTTN(NM_173630:exon44:c.5746-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5746-2A>G;ENST00000583043:exon38:c.5027-2A>G;ENST00000454359:exon43:c.5657-2A>G;ENST00000581161:exon43:c.5563-2A>G)	.	.	0.999989917668626	0.926
18	67696039	T	G	18	70028803	y	y	splicing	RTTN(NM_173630:exon44:c.5746-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon44:c.5746-2A>C;ENST00000583043:exon38:c.5027-2A>C;ENST00000454359:exon43:c.5657-2A>C;ENST00000581161:exon43:c.5563-2A>C)	.	.	0.999989917668626	0.926
18	67696040	A	C	18	70028804	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.987891330960563	0.744
18	67696040	A	G	18	70028804	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.01155664082171E-5	0.076
18	67696040	A	T	18	70028804	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0126936683698999	0.23
18	67696041	T	A	18	70028805	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0135196727949408	0.142
18	67696041	T	C	18	70028805	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998471131631982	0.856
18	67696041	T	G	18	70028805	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.68137894473361E-4	0.022
18	67696042	T	A	18	70028806	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.99694831214276E-4	0.036
18	67696042	T	C	18	70028806	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998855692732398	0.95
18	67696042	T	G	18	70028806	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.4377551925363E-4	0.008
18	67696043	T	A	18	70028807	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.05346684617152E-4	0.02
18	67696043	T	C	18	70028807	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.81965619309308E-4	0.018
18	67696043	T	G	18	70028807	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.63145518914767E-5	0.008
18	67696044	A	C	18	70028808	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0542628253661102	0.334
18	67696044	A	G	18	70028808	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.13431474093469E-4	0.008
18	67696044	A	T	18	70028808	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.394377191690963	0.606
18	67696045	A	C	18	70028809	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0136707585088956	0.338
18	67696045	A	G	18	70028809	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00114696344231825	0.09
18	67696045	A	T	18	70028809	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0399988914730746	0.382
18	67696046	A	C	18	70028810	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.749696547430103	0.734
18	67696046	A	G	18	70028810	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00528057807724336	0.102
18	67696046	A	T	18	70028810	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.871278710873477	0.688
18	67696047	C	A	18	70028811	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.2349774361462E-5	0.018
18	67696047	C	G	18	70028811	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.45135362996404E-5	0.002
18	67696047	C	T	18	70028811	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0128151046915249	0.218
18	67696048	A	C	18	70028812	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.83352380284162	0.674
18	67696048	A	G	18	70028812	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0115782864636962	0.3
18	67696048	A	T	18	70028812	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999955830589997	0.97
18	67696049	A	C	18	70028813	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0152995925258245	0.27
18	67696049	A	G	18	70028813	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.21470455415612E-5	0.026
18	67696049	A	T	18	70028813	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.12947792251346	0.482
18	67697240	A	C	18	70030004	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.39994444037546E-5	0.002
18	67697240	A	G	18	70030004	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.26892994842172E-4	0.012
18	67697240	A	T	18	70030004	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.69144810094376E-5	0.002
18	67697241	A	C	18	70030005	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.78389654127837E-5	0.0
18	67697241	A	G	18	70030005	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.78389654127837E-5	0.002
18	67697241	A	T	18	70030005	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.78389654127837E-5	0.0
18	67697242	T	A	18	70030006	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.64873262430791E-5	0.016
18	67697242	T	C	18	70030006	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.27915967485827E-5	0.006
18	67697242	T	G	18	70030006	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.79216576220405E-4	0.07
18	67697243	G	A	18	70030007	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.21591520678811E-4	0.018
18	67697243	G	C	18	70030007	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.45946964762049E-5	0.002
18	67697243	G	T	18	70030007	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.49610261087402E-4	0.034
18	67697244	T	A	18	70030008	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.416117218568076	0.47
18	67697244	T	C	18	70030008	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.144433209687098	0.45
18	67697244	T	G	18	70030008	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0454934295759766	0.326
18	67697245	T	A	18	70030009	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999390127340752	0.626
18	67697245	T	C	18	70030009	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.883911946836017	0.592
18	67697245	T	G	18	70030009	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999658825132261	0.662
18	67697246	A	C	18	70030010	y	y	splicing	RTTN(NM_173630:exon43:c.5745+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5745+2T>G;ENST00000583043:exon37:c.5026+2T>G;ENST00000454359:exon42:c.5656+2T>G;ENST00000581161:exon42:c.5562+2T>G)	.	.	0.99998382861657	0.85
18	67697246	A	G	18	70030010	y	y	splicing	RTTN(NM_173630:exon43:c.5745+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5745+2T>C;ENST00000583043:exon37:c.5026+2T>C;ENST00000454359:exon42:c.5656+2T>C;ENST00000581161:exon42:c.5562+2T>C)	.	.	0.96672304945429	0.542
18	67697246	A	T	18	70030010	y	y	splicing	RTTN(NM_173630:exon43:c.5745+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5745+2T>A;ENST00000583043:exon37:c.5026+2T>A;ENST00000454359:exon42:c.5656+2T>A;ENST00000581161:exon42:c.5562+2T>A)	.	.	0.999985730311967	0.862
18	67697247	C	A	18	70030011	y	y	splicing	RTTN(NM_173630:exon43:c.5745+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5745+1G>T;ENST00000583043:exon37:c.5026+1G>T;ENST00000454359:exon42:c.5656+1G>T;ENST00000581161:exon42:c.5562+1G>T)	.	.	0.999971317418422	0.908
18	67697247	C	G	18	70030011	y	y	splicing	RTTN(NM_173630:exon43:c.5745+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5745+1G>C;ENST00000583043:exon37:c.5026+1G>C;ENST00000454359:exon42:c.5656+1G>C;ENST00000581161:exon42:c.5562+1G>C)	.	.	0.999971317418422	0.906
18	67697247	C	T	18	70030011	y	y	splicing	RTTN(NM_173630:exon43:c.5745+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5745+1G>A;ENST00000583043:exon37:c.5026+1G>A;ENST00000454359:exon42:c.5656+1G>A;ENST00000581161:exon42:c.5562+1G>A)	.	.	0.999951957019574	0.9
18	67697248	C	A	18	70030012	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.G5745T:p.K1915N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.G5745T:p.K1915N;	0.999855539490283	1.0
18	67697248	C	G	18	70030012	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.G5745C:p.K1915N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.G5745C:p.K1915N;	0.99996456334227	0.998
18	67697248	C	T	18	70030012	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon42:c.G5745A:p.K1915K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.G5745A:p.K1915K;	0.999980953122795	0.984
18	67697249	T	A	18	70030013	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.A5744T:p.K1915M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.A5744T:p.K1915M;	0.999671940309225	0.968
18	67697249	T	C	18	70030013	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.A5744G:p.K1915R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.A5744G:p.K1915R;	0.998633829224632	0.936
18	67697249	T	G	18	70030013	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.A5744C:p.K1915T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.A5744C:p.K1915T;	0.994214386289897	0.84
18	67697250	T	A	18	70030014	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon42:c.A5743T:p.K1915X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon42:c.A5743T:p.K1915X;	0.596290465436898	0.702
18	67697250	T	C	18	70030014	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.A5743G:p.K1915E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.A5743G:p.K1915E;	0.00188765161635138	0.034
18	67697250	T	G	18	70030014	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.A5743C:p.K1915Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.A5743C:p.K1915Q;	0.00244907485987433	0.002
18	67697344	G	A	18	70030108	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon42:c.C5649T:p.A1883A;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.C5649T:p.A1883A;	8.62425377785365E-5	0.0
18	67697344	G	C	18	70030108	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon42:c.C5649G:p.A1883A;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.C5649G:p.A1883A;	4.32936657402909E-5	0.006
18	67697344	G	T	18	70030108	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon42:c.C5649A:p.A1883A;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.C5649A:p.A1883A;	2.56980582846664E-4	0.03
18	67697345	G	A	18	70030109	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.C5648T:p.A1883V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.C5648T:p.A1883V;	0.953563522477538	0.72
18	67697345	G	C	18	70030109	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.C5648G:p.A1883G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.C5648G:p.A1883G;	0.66691185175626	0.516
18	67697345	G	T	18	70030109	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon42:c.C5648A:p.A1883D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon42:c.C5648A:p.A1883D;	0.672894047127205	0.592
18	67697346	C	A	18	70030110	y	y	splicing	RTTN(NM_173630:exon43:c.5648-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5648-1G>T;ENST00000583043:exon37:c.4929-1G>T;ENST00000454359:exon42:c.5559-1G>T;ENST00000581161:exon42:c.5465-1G>T)	.	.	0.999976254090479	0.934
18	67697346	C	G	18	70030110	y	y	splicing	RTTN(NM_173630:exon43:c.5648-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5648-1G>C;ENST00000583043:exon37:c.4929-1G>C;ENST00000454359:exon42:c.5559-1G>C;ENST00000581161:exon42:c.5465-1G>C)	.	.	0.99993872479901	0.934
18	67697346	C	T	18	70030110	y	y	splicing	RTTN(NM_173630:exon43:c.5648-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5648-1G>A;ENST00000583043:exon37:c.4929-1G>A;ENST00000454359:exon42:c.5559-1G>A;ENST00000581161:exon42:c.5465-1G>A)	.	.	0.999976254090479	0.936
18	67697347	T	A	18	70030111	y	y	splicing	RTTN(NM_173630:exon43:c.5648-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5648-2A>T;ENST00000583043:exon37:c.4929-2A>T;ENST00000454359:exon42:c.5559-2A>T;ENST00000581161:exon42:c.5465-2A>T)	.	.	0.999990503154465	0.928
18	67697347	T	C	18	70030111	y	y	splicing	RTTN(NM_173630:exon43:c.5648-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5648-2A>G;ENST00000583043:exon37:c.4929-2A>G;ENST00000454359:exon42:c.5559-2A>G;ENST00000581161:exon42:c.5465-2A>G)	.	.	0.999975493285532	0.928
18	67697347	T	G	18	70030111	y	y	splicing	RTTN(NM_173630:exon43:c.5648-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon43:c.5648-2A>C;ENST00000583043:exon37:c.4929-2A>C;ENST00000454359:exon42:c.5559-2A>C;ENST00000581161:exon42:c.5465-2A>C)	.	.	0.999975493285532	0.926
18	67697348	G	A	18	70030112	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00252877732629271	0.104
18	67697348	G	C	18	70030112	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999575246612316	0.75
18	67697348	G	T	18	70030112	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.945194136675027	0.624
18	67697349	A	C	18	70030113	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.25873293652623E-4	0.038
18	67697349	A	G	18	70030113	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.517922916201E-4	0.058
18	67697349	A	T	18	70030113	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00108134418200242	0.0
18	67697350	A	C	18	70030114	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.975180250307157	0.502
18	67697350	A	G	18	70030114	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00530778425385036	0.198
18	67697350	A	T	18	70030114	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.968496666634088	0.542
18	67697351	A	C	18	70030115	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.965492038163179	0.678
18	67697351	A	G	18	70030115	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00117670111072896	0.128
18	67697351	A	T	18	70030115	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.885258726324479	0.678
18	67697352	G	A	18	70030116	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.99011974461565E-5	0.002
18	67697352	G	C	18	70030116	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00306646035717218	0.04
18	67697352	G	T	18	70030116	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00291277644207195	0.094
18	67697353	A	C	18	70030117	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0524951046103578	0.394
18	67697353	A	G	18	70030117	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.23170125800927E-4	0.024
18	67697353	A	T	18	70030117	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.20607943871483	0.344
18	67697354	C	A	18	70030118	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.55984068635994E-4	0.064
18	67697354	C	G	18	70030118	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.37812477915866E-4	0.024
18	67697354	C	T	18	70030118	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00202414859080001	0.106
18	67697355	A	C	18	70030119	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.884759605546616	0.686
18	67697355	A	G	18	70030119	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.34295549102239E-4	0.088
18	67697355	A	T	18	70030119	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999966554223067	0.98
18	67697356	A	C	18	70030120	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.985280302857876	0.682
18	67697356	A	G	18	70030120	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0309424564555519	0.258
18	67697356	A	T	18	70030120	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99795504752889	0.812
18	67697357	A	C	18	70030121	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0186725585527605	0.486
18	67697357	A	G	18	70030121	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.04048911944521E-4	0.102
18	67697357	A	T	18	70030121	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.111043189433235	0.48
18	67698104	T	A	18	70030868	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.76416454979694E-5	0.012
18	67698104	T	C	18	70030868	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.86075475573093E-5	0.002
18	67698104	T	G	18	70030868	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.74184855426449E-5	0.002
18	67698105	G	A	18	70030869	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.35507357323123E-4	0.014
18	67698105	G	C	18	70030869	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.0297496643326E-4	0.0
18	67698105	G	T	18	70030869	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.84615609883526E-5	0.0
18	67698106	G	A	18	70030870	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.66361699250721E-5	0.006
18	67698106	G	C	18	70030870	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.78283450732157E-4	0.044
18	67698106	G	T	18	70030870	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.16210217239962E-4	0.01
18	67698107	C	A	18	70030871	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.979180030867371	0.816
18	67698107	C	G	18	70030871	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.797634706737405	0.488
18	67698107	C	T	18	70030871	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.985751434794391	0.77
18	67698108	T	A	18	70030872	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.963749016981743	0.578
18	67698108	T	C	18	70030872	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.457681791669308	0.434
18	67698108	T	G	18	70030872	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.575461145085434	0.374
18	67698109	C	A	18	70030873	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.893857199028772	0.546
18	67698109	C	G	18	70030873	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.147278077312715	0.466
18	67698109	C	T	18	70030873	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.51044276709372E-4	0.004
18	67698110	A	C	18	70030874	y	y	splicing	RTTN(NM_173630:exon42:c.5647+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5647+2T>G;ENST00000583043:exon36:c.4928+2T>G;ENST00000454359:exon41:c.5558+2T>G;ENST00000581161:exon41:c.5464+2T>G)	.	.	0.999966203349492	0.926
18	67698110	A	G	18	70030874	y	y	splicing	RTTN(NM_173630:exon42:c.5647+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5647+2T>C;ENST00000583043:exon36:c.4928+2T>C;ENST00000454359:exon41:c.5558+2T>C;ENST00000581161:exon41:c.5464+2T>C)	.	.	0.999795733590769	0.86
18	67698110	A	T	18	70030874	y	y	splicing	RTTN(NM_173630:exon42:c.5647+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5647+2T>A;ENST00000583043:exon36:c.4928+2T>A;ENST00000454359:exon41:c.5558+2T>A;ENST00000581161:exon41:c.5464+2T>A)	.	.	0.999986903042585	0.928
18	67698111	C	A	18	70030875	y	y	splicing	RTTN(NM_173630:exon42:c.5647+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5647+1G>T;ENST00000583043:exon36:c.4928+1G>T;ENST00000454359:exon41:c.5558+1G>T;ENST00000581161:exon41:c.5464+1G>T)	.	.	0.999976137096505	0.934
18	67698111	C	G	18	70030875	y	y	splicing	RTTN(NM_173630:exon42:c.5647+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5647+1G>C;ENST00000583043:exon36:c.4928+1G>C;ENST00000454359:exon41:c.5558+1G>C;ENST00000581161:exon41:c.5464+1G>C)	.	.	0.999938422912956	0.934
18	67698111	C	T	18	70030875	y	y	splicing	RTTN(NM_173630:exon42:c.5647+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5647+1G>A;ENST00000583043:exon36:c.4928+1G>A;ENST00000454359:exon41:c.5558+1G>A;ENST00000581161:exon41:c.5464+1G>A)	.	.	0.999976137096505	0.936
18	67698112	C	A	18	70030876	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.G5647T:p.A1883S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.G5647T:p.A1883S;	0.999414062368875	0.968
18	67698112	C	G	18	70030876	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.G5647C:p.A1883P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.G5647C:p.A1883P;	0.999976686301996	0.98
18	67698112	C	T	18	70030876	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.G5647A:p.A1883T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.G5647A:p.A1883T;	0.999926471504757	0.986
18	67698113	T	A	18	70030877	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.A5646T:p.K1882N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.A5646T:p.K1882N;	0.114018158558977	0.408
18	67698113	T	C	18	70030877	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon41:c.A5646G:p.K1882K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.A5646G:p.K1882K;	0.160395619240301	0.424
18	67698113	T	G	18	70030877	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.A5646C:p.K1882N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.A5646C:p.K1882N;	0.134418681289929	0.384
18	67698114	T	A	18	70030878	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.A5645T:p.K1882I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.A5645T:p.K1882I;	0.0079148460479997	0.48
18	67698114	T	C	18	70030878	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.A5645G:p.K1882R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.A5645G:p.K1882R;	3.12016174007095E-4	0.006
18	67698114	T	G	18	70030878	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.A5645C:p.K1882T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.A5645C:p.K1882T;	1.02017920119126E-4	0.006
18	67698216	C	A	18	70030980	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.G5543T:p.C1848F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.G5543T:p.C1848F;	0.00298527320002261	0.13
18	67698216	C	G	18	70030980	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.G5543C:p.C1848S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.G5543C:p.C1848S;	8.38085723169812E-5	0.024
18	67698216	C	T	18	70030980	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.G5543A:p.C1848Y;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.G5543A:p.C1848Y;	0.0657420591981412	0.238
18	67698217	A	C	18	70030981	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.T5542G:p.C1848G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.T5542G:p.C1848G;	0.00136319058649263	0.142
18	67698217	A	G	18	70030981	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.T5542C:p.C1848R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.T5542C:p.C1848R;	7.69185132358359E-5	0.026
18	67698217	A	T	18	70030981	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon41:c.T5542A:p.C1848S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon41:c.T5542A:p.C1848S;	2.53748185866162E-4	0.006
18	67698218	C	A	18	70030982	y	y	splicing	RTTN(NM_173630:exon42:c.5542-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5542-1G>T;ENST00000583043:exon36:c.4823-1G>T;ENST00000454359:exon41:c.5453-1G>T;ENST00000581161:exon41:c.5359-1G>T)	.	.	0.999986675681007	0.93
18	67698218	C	G	18	70030982	y	y	splicing	RTTN(NM_173630:exon42:c.5542-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5542-1G>C;ENST00000583043:exon36:c.4823-1G>C;ENST00000454359:exon41:c.5453-1G>C;ENST00000581161:exon41:c.5359-1G>C)	.	.	0.999986675681007	0.93
18	67698218	C	T	18	70030982	y	y	splicing	RTTN(NM_173630:exon42:c.5542-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5542-1G>A;ENST00000583043:exon36:c.4823-1G>A;ENST00000454359:exon41:c.5453-1G>A;ENST00000581161:exon41:c.5359-1G>A)	.	.	0.999986675681007	0.93
18	67698219	T	A	18	70030983	y	y	splicing	RTTN(NM_173630:exon42:c.5542-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5542-2A>T;ENST00000583043:exon36:c.4823-2A>T;ENST00000454359:exon41:c.5453-2A>T;ENST00000581161:exon41:c.5359-2A>T)	.	.	0.999989917668626	0.928
18	67698219	T	C	18	70030983	y	y	splicing	RTTN(NM_173630:exon42:c.5542-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5542-2A>G;ENST00000583043:exon36:c.4823-2A>G;ENST00000454359:exon41:c.5453-2A>G;ENST00000581161:exon41:c.5359-2A>G)	.	.	0.999989917668626	0.928
18	67698219	T	G	18	70030983	y	y	splicing	RTTN(NM_173630:exon42:c.5542-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon42:c.5542-2A>C;ENST00000583043:exon36:c.4823-2A>C;ENST00000454359:exon41:c.5453-2A>C;ENST00000581161:exon41:c.5359-2A>C)	.	.	0.999989917668626	0.928
18	67698220	G	A	18	70030984	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0285478635015626	0.108
18	67698220	G	C	18	70030984	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999923364902578	0.95
18	67698220	G	T	18	70030984	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.987677120618081	0.856
18	67698221	C	A	18	70030985	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.52860200913063E-4	0.004
18	67698221	C	G	18	70030985	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.27126310329634E-5	0.004
18	67698221	C	T	18	70030985	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.6897314500935E-4	0.002
18	67698222	A	C	18	70030986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.45233408759339	0.526
18	67698222	A	G	18	70030986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.58274543624254E-4	0.088
18	67698222	A	T	18	70030986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999783224430101	0.928
18	67698223	G	A	18	70030987	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.97740401935699E-4	0.002
18	67698223	G	C	18	70030987	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00354787538694288	0.274
18	67698223	G	T	18	70030987	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0138528591244725	0.396
18	67698224	A	C	18	70030988	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.986250619054061	0.886
18	67698224	A	G	18	70030988	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0433624072661253	0.326
18	67698224	A	T	18	70030988	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.987835931290624	0.77
18	67698225	G	A	18	70030989	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.03384684817269E-5	0.004
18	67698225	G	C	18	70030989	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00209826658468628	0.056
18	67698225	G	T	18	70030989	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00282306098535291	0.102
18	67698226	A	C	18	70030990	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.919988553930044	0.688
18	67698226	A	G	18	70030990	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.96141547714992E-4	0.11
18	67698226	A	T	18	70030990	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.977645586209184	0.702
18	67698227	A	C	18	70030991	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999979335828267	0.98
18	67698227	A	G	18	70030991	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.022329765223056	0.166
18	67698227	A	T	18	70030991	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.947091635593717	0.7
18	67698228	T	A	18	70030992	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.68540926809171E-5	0.184
18	67698228	T	C	18	70030992	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.80014261516827E-5	0.102
18	67698228	T	G	18	70030992	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.80014261516827E-5	0.082
18	67698229	A	C	18	70030993	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999959598478272	0.926
18	67698229	A	G	18	70030993	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.61544794451888E-5	0.128
18	67698229	A	T	18	70030993	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.753326630651911	0.392
18	67715199	T	A	18	70047963	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.38731564659595E-5	0.0
18	67715199	T	C	18	70047963	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.96404089075045E-5	0.004
18	67715199	T	G	18	70047963	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.96404089075045E-5	0.004
18	67715200	G	A	18	70047964	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.13863151348338E-5	0.0
18	67715200	G	C	18	70047964	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.13863151348338E-5	0.0
18	67715200	G	T	18	70047964	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.4746191741039E-5	0.0
18	67715201	A	C	18	70047965	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.69503666408862E-5	0.052
18	67715201	A	G	18	70047965	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00163615545304987	0.068
18	67715201	A	T	18	70047965	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.55639782008822E-4	0.058
18	67715202	C	A	18	70047966	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.410098843346781	0.432
18	67715202	C	G	18	70047966	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.527305461873628	0.458
18	67715202	C	T	18	70047966	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.764359104949873	0.456
18	67715203	G	A	18	70047967	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.01778728609985E-5	0.044
18	67715203	G	C	18	70047967	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.51883235330004E-5	0.006
18	67715203	G	T	18	70047967	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.23776965113284E-5	0.038
18	67715204	T	A	18	70047968	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.130112573974923	0.362
18	67715204	T	C	18	70047968	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00193985950930999	0.238
18	67715204	T	G	18	70047968	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.976270952574419	0.576
18	67715205	A	C	18	70047969	y	y	splicing	RTTN(NM_173630:exon41:c.5541+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5541+2T>G;ENST00000583043:exon35:c.4822+2T>G;ENST00000454359:exon40:c.5452+2T>G;ENST00000581161:exon40:c.5358+2T>G)	.	.	0.999988247793601	0.93
18	67715205	A	G	18	70047969	y	y	splicing	RTTN(NM_173630:exon41:c.5541+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5541+2T>C;ENST00000583043:exon35:c.4822+2T>C;ENST00000454359:exon40:c.5452+2T>C;ENST00000581161:exon40:c.5358+2T>C)	.	.	0.988163425542712	0.676
18	67715205	A	T	18	70047969	y	y	splicing	RTTN(NM_173630:exon41:c.5541+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5541+2T>A;ENST00000583043:exon35:c.4822+2T>A;ENST00000454359:exon40:c.5452+2T>A;ENST00000581161:exon40:c.5358+2T>A)	.	.	0.999988247793601	0.93
18	67715206	C	A	18	70047970	y	y	splicing	RTTN(NM_173630:exon41:c.5541+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5541+1G>T;ENST00000583043:exon35:c.4822+1G>T;ENST00000454359:exon40:c.5452+1G>T;ENST00000581161:exon40:c.5358+1G>T)	.	.	0.999990361384395	0.938
18	67715206	C	G	18	70047970	y	y	splicing	RTTN(NM_173630:exon41:c.5541+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5541+1G>C;ENST00000583043:exon35:c.4822+1G>C;ENST00000454359:exon40:c.5452+1G>C;ENST00000581161:exon40:c.5358+1G>C)	.	.	0.999990361384395	0.938
18	67715206	C	T	18	70047970	y	y	splicing	RTTN(NM_173630:exon41:c.5541+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5541+1G>A;ENST00000583043:exon35:c.4822+1G>A;ENST00000454359:exon40:c.5452+1G>A;ENST00000581161:exon40:c.5358+1G>A)	.	.	0.999990361384395	0.938
18	67715207	C	A	18	70047971	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.G5541T:p.Q1847H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.G5541T:p.Q1847H;	0.999971128433622	0.944
18	67715207	C	G	18	70047971	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.G5541C:p.Q1847H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.G5541C:p.Q1847H;	0.999972192347768	0.99
18	67715207	C	T	18	70047971	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon40:c.G5541A:p.Q1847Q;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.G5541A:p.Q1847Q;	0.997245057767681	0.766
18	67715208	T	A	18	70047972	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.A5540T:p.Q1847L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.A5540T:p.Q1847L;	0.994913342424979	0.874
18	67715208	T	C	18	70047972	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.A5540G:p.Q1847R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.A5540G:p.Q1847R;	0.996191215701407	0.94
18	67715208	T	G	18	70047972	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.A5540C:p.Q1847P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.A5540C:p.Q1847P;	0.992647812003294	0.932
18	67715209	G	A	18	70047973	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon40:c.C5539T:p.Q1847X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon40:c.C5539T:p.Q1847X;	0.252671325525134	0.522
18	67715209	G	C	18	70047973	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.C5539G:p.Q1847E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.C5539G:p.Q1847E;	8.23870533625913E-5	0.032
18	67715209	G	T	18	70047973	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.C5539A:p.Q1847K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.C5539A:p.Q1847K;	1.54479035858412E-4	0.026
18	67715423	A	C	18	70048187	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.T5325G:p.D1775E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.T5325G:p.D1775E;	2.65920533792837E-4	0.076
18	67715423	A	G	18	70048187	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon40:c.T5325C:p.D1775D;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.T5325C:p.D1775D;	8.83201053162029E-4	0.046
18	67715423	A	T	18	70048187	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.T5325A:p.D1775E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.T5325A:p.D1775E;	4.71730326579606E-4	0.082
18	67715424	T	A	18	70048188	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.A5324T:p.D1775V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.A5324T:p.D1775V;	0.236084393864788	0.336
18	67715424	T	C	18	70048188	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.A5324G:p.D1775G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.A5324G:p.D1775G;	2.12171142751185E-4	0.006
18	67715424	T	G	18	70048188	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon40:c.A5324C:p.D1775A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon40:c.A5324C:p.D1775A;	0.0595940591256917	0.13
18	67715425	C	A	18	70048189	y	y	splicing	RTTN(NM_173630:exon41:c.5324-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5324-1G>T;ENST00000583043:exon35:c.4605-1G>T;ENST00000454359:exon40:c.5235-1G>T;ENST00000581161:exon40:c.5141-1G>T)	.	.	0.99995545544995	0.944
18	67715425	C	G	18	70048189	y	y	splicing	RTTN(NM_173630:exon41:c.5324-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5324-1G>C;ENST00000583043:exon35:c.4605-1G>C;ENST00000454359:exon40:c.5235-1G>C;ENST00000581161:exon40:c.5141-1G>C)	.	.	0.99995545544995	0.946
18	67715425	C	T	18	70048189	y	y	splicing	RTTN(NM_173630:exon41:c.5324-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5324-1G>A;ENST00000583043:exon35:c.4605-1G>A;ENST00000454359:exon40:c.5235-1G>A;ENST00000581161:exon40:c.5141-1G>A)	.	.	0.99995545544995	0.946
18	67715426	T	A	18	70048190	y	y	splicing	RTTN(NM_173630:exon41:c.5324-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5324-2A>T;ENST00000583043:exon35:c.4605-2A>T;ENST00000454359:exon40:c.5235-2A>T;ENST00000581161:exon40:c.5141-2A>T)	.	.	0.99994568797423	0.95
18	67715426	T	C	18	70048190	y	y	splicing	RTTN(NM_173630:exon41:c.5324-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5324-2A>G;ENST00000583043:exon35:c.4605-2A>G;ENST00000454359:exon40:c.5235-2A>G;ENST00000581161:exon40:c.5141-2A>G)	.	.	0.99994568797423	0.952
18	67715426	T	G	18	70048190	y	y	splicing	RTTN(NM_173630:exon41:c.5324-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon41:c.5324-2A>C;ENST00000583043:exon35:c.4605-2A>C;ENST00000454359:exon40:c.5235-2A>C;ENST00000581161:exon40:c.5141-2A>C)	.	.	0.99994568797423	0.952
18	67715427	A	C	18	70048191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.992133311874712	0.686
18	67715427	A	G	18	70048191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.00538359782295E-5	0.018
18	67715427	A	T	18	70048191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.161366621221415	0.408
18	67715428	A	C	18	70048192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.9600281373232E-4	0.032
18	67715428	A	G	18	70048192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.52906179307036E-4	0.018
18	67715428	A	T	18	70048192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.04339386635573E-4	0.02
18	67715429	A	C	18	70048193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.326503703276729	0.42
18	67715429	A	G	18	70048193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.11145499484032E-5	0.024
18	67715429	A	T	18	70048193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.408684044144648	0.392
18	67715430	G	A	18	70048194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.56280828267886E-5	0.0
18	67715430	G	C	18	70048194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0443296076018957	0.372
18	67715430	G	T	18	70048194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00479255778909335	0.24
18	67715431	G	A	18	70048195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.9419943922711E-5	0.002
18	67715431	G	C	18	70048195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.94721076890421E-4	0.052
18	67715431	G	T	18	70048195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.96874633644161E-4	0.032
18	67715432	A	C	18	70048196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00220392462839396	0.13
18	67715432	A	G	18	70048196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.40940110803307E-4	0.014
18	67715432	A	T	18	70048196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00229249509516008	0.15
18	67715433	A	C	18	70048197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999842028045494	0.932
18	67715433	A	G	18	70048197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.36007025603947E-4	0.054
18	67715433	A	T	18	70048197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00503785473358404	0.296
18	67715434	T	A	18	70048198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.6364861205399E-5	0.0
18	67715434	T	C	18	70048198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.64782646265519E-4	0.018
18	67715434	T	G	18	70048198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.35020097372625E-5	0.0
18	67715435	A	C	18	70048199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.585091541705684	0.372
18	67715435	A	G	18	70048199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.16536011655138E-4	0.044
18	67715435	A	T	18	70048199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.366633213694037	0.416
18	67715436	A	C	18	70048200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999896949270999	0.982
18	67715436	A	G	18	70048200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00429043241397296	0.15
18	67715436	A	T	18	70048200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.150405185795577	0.53
18	67718639	C	A	18	70051403	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.46665879436713E-5	0.0
18	67718639	C	G	18	70051403	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.75289494538373E-5	0.0
18	67718639	C	T	18	70051403	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.66217413225017E-5	0.0
18	67718640	T	A	18	70051404	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00342848437011798	0.02
18	67718640	T	C	18	70051404	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.10897005039359E-4	0.006
18	67718640	T	G	18	70051404	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.0951503128037E-4	0.006
18	67718641	T	A	18	70051405	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.41466236723145E-5	0.012
18	67718641	T	C	18	70051405	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.6155177179202E-5	0.002
18	67718641	T	G	18	70051405	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.46068130260847E-4	0.018
18	67718642	C	A	18	70051406	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999593792195209	0.934
18	67718642	C	G	18	70051406	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999988584794467	0.972
18	67718642	C	T	18	70051406	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999810711537892	0.886
18	67718643	T	A	18	70051407	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.987597752761657	0.822
18	67718643	T	C	18	70051407	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.988743599186218	0.756
18	67718643	T	G	18	70051407	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.944149190764561	0.82
18	67718644	T	A	18	70051408	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999031641665969	0.892
18	67718644	T	C	18	70051408	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0842630238038508	0.342
18	67718644	T	G	18	70051408	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999323072280083	0.9
18	67718645	A	C	18	70051409	y	y	splicing	RTTN(NM_173630:exon40:c.5323+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5323+2T>G;ENST00000583043:exon34:c.4604+2T>G;ENST00000454359:exon39:c.5234+2T>G;ENST00000581161:exon39:c.5140+2T>G)	.	.	0.999986903042585	0.928
18	67718645	A	G	18	70051409	y	y	splicing	RTTN(NM_173630:exon40:c.5323+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5323+2T>C;ENST00000583043:exon34:c.4604+2T>C;ENST00000454359:exon39:c.5234+2T>C;ENST00000581161:exon39:c.5140+2T>C)	.	.	0.999905519991901	0.866
18	67718645	A	T	18	70051409	y	y	splicing	RTTN(NM_173630:exon40:c.5323+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5323+2T>A;ENST00000583043:exon34:c.4604+2T>A;ENST00000454359:exon39:c.5234+2T>A;ENST00000581161:exon39:c.5140+2T>A)	.	.	0.999989917668626	0.928
18	67718646	C	A	18	70051410	y	y	splicing	RTTN(NM_173630:exon40:c.5323+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5323+1G>T;ENST00000583043:exon34:c.4604+1G>T;ENST00000454359:exon39:c.5234+1G>T;ENST00000581161:exon39:c.5140+1G>T)	.	.	0.999967335026411	0.942
18	67718646	C	G	18	70051410	y	y	splicing	RTTN(NM_173630:exon40:c.5323+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5323+1G>C;ENST00000583043:exon34:c.4604+1G>C;ENST00000454359:exon39:c.5234+1G>C;ENST00000581161:exon39:c.5140+1G>C)	.	.	0.999915710762489	0.942
18	67718646	C	T	18	70051410	y	y	splicing	RTTN(NM_173630:exon40:c.5323+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5323+1G>A;ENST00000583043:exon34:c.4604+1G>A;ENST00000454359:exon39:c.5234+1G>A;ENST00000581161:exon39:c.5140+1G>A)	.	.	0.999967335026411	0.944
18	67718647	C	A	18	70051411	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.G5323T:p.D1775Y;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.G5323T:p.D1775Y;	0.999977525584645	0.996
18	67718647	C	G	18	70051411	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.G5323C:p.D1775H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.G5323C:p.D1775H;	0.999992546404465	0.994
18	67718647	C	T	18	70051411	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.G5323A:p.D1775N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.G5323A:p.D1775N;	0.999980584453663	1.0
18	67718648	A	C	18	70051412	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.T5322G:p.I1774M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5322G:p.I1774M;	1.39315158926458E-4	0.07
18	67718648	A	G	18	70051412	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon39:c.T5322C:p.I1774I;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5322C:p.I1774I;	1.69553804282107E-4	0.022
18	67718648	A	T	18	70051412	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon39:c.T5322A:p.I1774I;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5322A:p.I1774I;	2.47658018865227E-4	0.204
18	67718649	A	C	18	70051413	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.T5321G:p.I1774S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5321G:p.I1774S;	3.09138290402789E-4	0.034
18	67718649	A	G	18	70051413	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.T5321C:p.I1774T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5321C:p.I1774T;	6.69523187335458E-5	0.022
18	67718649	A	T	18	70051413	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.T5321A:p.I1774N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5321A:p.I1774N;	7.94738078697099E-5	0.074
18	67718783	A	C	18	70051547	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.T5187G:p.D1729E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5187G:p.D1729E;	0.00364223554781393	0.182
18	67718783	A	G	18	70051547	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon39:c.T5187C:p.D1729D;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5187C:p.D1729D;	4.82934633035938E-4	0.014
18	67718783	A	T	18	70051547	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.T5187A:p.D1729E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.T5187A:p.D1729E;	0.00170328412976325	0.132
18	67718784	T	A	18	70051548	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.A5186T:p.D1729V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.A5186T:p.D1729V;	0.30646469436975	0.402
18	67718784	T	C	18	70051548	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.A5186G:p.D1729G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.A5186G:p.D1729G;	0.523220732019928	0.606
18	67718784	T	G	18	70051548	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon39:c.A5186C:p.D1729A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon39:c.A5186C:p.D1729A;	0.136010180450314	0.46
18	67718785	C	A	18	70051549	y	y	splicing	RTTN(NM_173630:exon40:c.5186-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5186-1G>T;ENST00000583043:exon34:c.4467-1G>T;ENST00000454359:exon39:c.5097-1G>T;ENST00000581161:exon39:c.5003-1G>T)	.	.	0.999985532734767	0.934
18	67718785	C	G	18	70051549	y	y	splicing	RTTN(NM_173630:exon40:c.5186-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5186-1G>C;ENST00000583043:exon34:c.4467-1G>C;ENST00000454359:exon39:c.5097-1G>C;ENST00000581161:exon39:c.5003-1G>C)	.	.	0.999985532734767	0.934
18	67718785	C	T	18	70051549	y	y	splicing	RTTN(NM_173630:exon40:c.5186-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5186-1G>A;ENST00000583043:exon34:c.4467-1G>A;ENST00000454359:exon39:c.5097-1G>A;ENST00000581161:exon39:c.5003-1G>A)	.	.	0.999985532734767	0.934
18	67718786	T	A	18	70051550	y	y	splicing	RTTN(NM_173630:exon40:c.5186-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5186-2A>T;ENST00000583043:exon34:c.4467-2A>T;ENST00000454359:exon39:c.5097-2A>T;ENST00000581161:exon39:c.5003-2A>T)	.	.	0.999988247793601	0.926
18	67718786	T	C	18	70051550	y	y	splicing	RTTN(NM_173630:exon40:c.5186-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5186-2A>G;ENST00000583043:exon34:c.4467-2A>G;ENST00000454359:exon39:c.5097-2A>G;ENST00000581161:exon39:c.5003-2A>G)	.	.	0.999988247793601	0.926
18	67718786	T	G	18	70051550	y	y	splicing	RTTN(NM_173630:exon40:c.5186-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon40:c.5186-2A>C;ENST00000583043:exon34:c.4467-2A>C;ENST00000454359:exon39:c.5097-2A>C;ENST00000581161:exon39:c.5003-2A>C)	.	.	0.999988247793601	0.926
18	67718787	A	C	18	70051551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.991169936808552	0.694
18	67718787	A	G	18	70051551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.23072838403557E-5	0.028
18	67718787	A	T	18	70051551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00475985574497602	0.202
18	67718788	T	A	18	70051552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.8167208232667E-5	0.0
18	67718788	T	C	18	70051552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.10433624303625E-4	0.0
18	67718788	T	G	18	70051552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.47800177194909E-4	0.004
18	67718789	A	C	18	70051553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.983792656667799	0.598
18	67718789	A	G	18	70051553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00247395886053589	0.108
18	67718789	A	T	18	70051553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.829940120570899	0.552
18	67718790	A	C	18	70051554	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.966531566226197	0.678
18	67718790	A	G	18	70051554	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00242762695783099	0.04
18	67718790	A	T	18	70051554	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.988375117170422	0.664
18	67718791	A	C	18	70051555	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0148650870834123	0.208
18	67718791	A	G	18	70051555	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.07332540421938E-5	0.008
18	67718791	A	T	18	70051555	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0266340802252431	0.262
18	67718792	A	C	18	70051556	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999965433429516	0.952
18	67718792	A	G	18	70051556	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.50553078851371E-5	0.008
18	67718792	A	T	18	70051556	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.122855282294387	0.238
18	67718793	T	A	18	70051557	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.29769006853142E-5	0.11
18	67718793	T	C	18	70051557	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999723748584661	0.928
18	67718793	T	G	18	70051557	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.31675797406889E-5	0.046
18	67718794	T	A	18	70051558	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.35331889831012E-4	0.022
18	67718794	T	C	18	70051558	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.02117534761752E-4	0.01
18	67718794	T	G	18	70051558	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.01950432941453E-5	0.012
18	67718795	A	C	18	70051559	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.97049979494396	0.708
18	67718795	A	G	18	70051559	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.037941043564542	0.264
18	67718795	A	T	18	70051559	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.984101871528524	0.714
18	67718796	A	C	18	70051560	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999980122118697	0.958
18	67718796	A	G	18	70051560	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.200966992327165	0.374
18	67718796	A	T	18	70051560	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998480592593211	0.818
18	67721359	A	C	18	70054123	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.22800136258938E-5	0.02
18	67721359	A	G	18	70054123	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.22800136258938E-5	0.02
18	67721359	A	T	18	70054123	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.22800136258938E-5	0.018
18	67721360	A	C	18	70054124	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.69420461982139E-4	0.014
18	67721360	A	G	18	70054124	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.39431345139557E-4	0.008
18	67721360	A	T	18	70054124	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.7125176587391E-4	0.006
18	67721361	G	A	18	70054125	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.40881572132604E-5	0.002
18	67721361	G	C	18	70054125	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.24624135159062E-4	0.026
18	67721361	G	T	18	70054125	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.15215604029174E-4	0.006
18	67721362	C	A	18	70054126	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.796099025528854	0.484
18	67721362	C	G	18	70054126	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.377523568435742	0.388
18	67721362	C	T	18	70054126	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.795895106960363	0.532
18	67721363	T	A	18	70054127	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.667419581370782	0.506
18	67721363	T	C	18	70054127	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.731875208084814	0.438
18	67721363	T	G	18	70054127	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.537998579374629	0.51
18	67721364	T	A	18	70054128	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.995601035619707	0.792
18	67721364	T	C	18	70054128	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00976353470711832	0.146
18	67721364	T	G	18	70054128	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.98491343473907	0.736
18	67721365	A	C	18	70054129	y	y	splicing	RTTN(NM_173630:exon39:c.5185+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5185+2T>G;ENST00000583043:exon33:c.4466+2T>G;ENST00000454359:exon38:c.5096+2T>G;ENST00000581161:exon38:c.5002+2T>G)	.	.	0.999955521744805	0.938
18	67721365	A	G	18	70054129	y	y	splicing	RTTN(NM_173630:exon39:c.5185+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5185+2T>C;ENST00000583043:exon33:c.4466+2T>C;ENST00000454359:exon38:c.5096+2T>C;ENST00000581161:exon38:c.5002+2T>C)	.	.	0.965203182696189	0.576
18	67721365	A	T	18	70054129	y	y	splicing	RTTN(NM_173630:exon39:c.5185+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5185+2T>A;ENST00000583043:exon33:c.4466+2T>A;ENST00000454359:exon38:c.5096+2T>A;ENST00000581161:exon38:c.5002+2T>A)	.	.	0.999955107838025	0.938
18	67721366	C	A	18	70054130	y	y	splicing	RTTN(NM_173630:exon39:c.5185+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5185+1G>T;ENST00000583043:exon33:c.4466+1G>T;ENST00000454359:exon38:c.5096+1G>T;ENST00000581161:exon38:c.5002+1G>T)	.	.	0.999969205341567	0.952
18	67721366	C	G	18	70054130	y	y	splicing	RTTN(NM_173630:exon39:c.5185+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5185+1G>C;ENST00000583043:exon33:c.4466+1G>C;ENST00000454359:exon38:c.5096+1G>C;ENST00000581161:exon38:c.5002+1G>C)	.	.	0.999969489273001	0.94
18	67721366	C	T	18	70054130	y	y	splicing	RTTN(NM_173630:exon39:c.5185+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5185+1G>A;ENST00000583043:exon33:c.4466+1G>A;ENST00000454359:exon38:c.5096+1G>A;ENST00000581161:exon38:c.5002+1G>A)	.	.	0.999969205341567	0.952
18	67721367	C	A	18	70054131	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.G5185T:p.D1729Y;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.G5185T:p.D1729Y;	0.999953588007062	0.998
18	67721367	C	G	18	70054131	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.G5185C:p.D1729H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.G5185C:p.D1729H;	0.999960775370976	0.95
18	67721367	C	T	18	70054131	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.G5185A:p.D1729N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.G5185A:p.D1729N;	0.999975685009496	0.992
18	67721368	T	A	18	70054132	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.A5184T:p.L1728F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.A5184T:p.L1728F;	0.0581158073306148	0.526
18	67721368	T	C	18	70054132	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon38:c.A5184G:p.L1728L;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.A5184G:p.L1728L;	0.0386591902170703	0.404
18	67721368	T	G	18	70054132	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.A5184C:p.L1728F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.A5184C:p.L1728F;	0.0280222090778173	0.462
18	67721369	A	C	18	70054133	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon38:c.T5183G:p.L1728X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon38:c.T5183G:p.L1728X;	7.52358960072631E-5	0.326
18	67721369	A	G	18	70054133	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.T5183C:p.L1728S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.T5183C:p.L1728S;	4.56780165721631E-6	0.022
18	67721369	A	T	18	70054133	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon38:c.T5183A:p.L1728X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon38:c.T5183A:p.L1728X;	5.38096314705838E-5	0.326
18	67721519	A	C	18	70054283	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.T5033G:p.V1678G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.T5033G:p.V1678G;	8.32877285029726E-4	0.2
18	67721519	A	G	18	70054283	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.T5033C:p.V1678A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.T5033C:p.V1678A;	8.46117483818081E-4	0.178
18	67721519	A	T	18	70054283	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.T5033A:p.V1678D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.T5033A:p.V1678D;	6.59734363733747E-5	0.164
18	67721520	C	A	18	70054284	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.G5032T:p.V1678F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.G5032T:p.V1678F;	0.22158031359858	0.598
18	67721520	C	G	18	70054284	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.G5032C:p.V1678L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.G5032C:p.V1678L;	0.00800737967986767	0.374
18	67721520	C	T	18	70054284	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon38:c.G5032A:p.V1678I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon38:c.G5032A:p.V1678I;	0.00353217931902646	0.19
18	67721521	C	A	18	70054285	y	y	splicing	RTTN(NM_173630:exon39:c.5032-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5032-1G>T;ENST00000583043:exon33:c.4313-1G>T;ENST00000454359:exon38:c.4943-1G>T;ENST00000581161:exon38:c.4849-1G>T)	.	.	0.999938422912956	0.928
18	67721521	C	G	18	70054285	y	y	splicing	RTTN(NM_173630:exon39:c.5032-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5032-1G>C;ENST00000583043:exon33:c.4313-1G>C;ENST00000454359:exon38:c.4943-1G>C;ENST00000581161:exon38:c.4849-1G>C)	.	.	0.999938422912956	0.93
18	67721521	C	T	18	70054285	y	y	splicing	RTTN(NM_173630:exon39:c.5032-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5032-1G>A;ENST00000583043:exon33:c.4313-1G>A;ENST00000454359:exon38:c.4943-1G>A;ENST00000581161:exon38:c.4849-1G>A)	.	.	0.999976137096505	0.928
18	67721522	T	A	18	70054286	y	y	splicing	RTTN(NM_173630:exon39:c.5032-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5032-2A>T;ENST00000583043:exon33:c.4313-2A>T;ENST00000454359:exon38:c.4943-2A>T;ENST00000581161:exon38:c.4849-2A>T)	.	.	0.999946188727699	0.944
18	67721522	T	C	18	70054286	y	y	splicing	RTTN(NM_173630:exon39:c.5032-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5032-2A>G;ENST00000583043:exon33:c.4313-2A>G;ENST00000454359:exon38:c.4943-2A>G;ENST00000581161:exon38:c.4849-2A>G)	.	.	0.999946188727699	0.94
18	67721522	T	G	18	70054286	y	y	splicing	RTTN(NM_173630:exon39:c.5032-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon39:c.5032-2A>C;ENST00000583043:exon33:c.4313-2A>C;ENST00000454359:exon38:c.4943-2A>C;ENST00000581161:exon38:c.4849-2A>C)	.	.	0.999946188727699	0.94
18	67721523	G	A	18	70054287	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.24085769169541E-4	0.018
18	67721523	G	C	18	70054287	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996330095609212	0.794
18	67721523	G	T	18	70054287	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.579203405247704	0.508
18	67721524	T	A	18	70054288	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.17145549341748E-5	0.0
18	67721524	T	C	18	70054288	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.84020472779156	0.666
18	67721524	T	G	18	70054288	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.35937373799531E-4	0.06
18	67721525	T	A	18	70054289	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.44181617883646E-5	0.002
18	67721525	T	C	18	70054289	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.364638661431961	0.446
18	67721525	T	G	18	70054289	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.85181669011287E-5	0.042
18	67721526	T	A	18	70054290	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.35176480286442E-5	0.006
18	67721526	T	C	18	70054290	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.57687924259246E-5	0.004
18	67721526	T	G	18	70054290	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.77289449884193E-5	0.002
18	67721527	G	A	18	70054291	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.70371308764846E-5	0.0
18	67721527	G	C	18	70054291	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00510287211526427	0.14
18	67721527	G	T	18	70054291	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0118247579302602	0.122
18	67721528	A	C	18	70054292	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0146741167564239	0.116
18	67721528	A	G	18	70054292	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.08394900548102E-5	0.0
18	67721528	A	T	18	70054292	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.027553143717646	0.088
18	67721529	A	C	18	70054293	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.819306991842369	0.584
18	67721529	A	G	18	70054293	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.03034191455994E-4	0.04
18	67721529	A	T	18	70054293	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.684401322806945	0.54
18	67721530	A	C	18	70054294	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.223358815033289	0.488
18	67721530	A	G	18	70054294	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.37528288519614E-4	0.008
18	67721530	A	T	18	70054294	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.45814269312253	0.45
18	67721531	A	C	18	70054295	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.755815118695613	0.504
18	67721531	A	G	18	70054295	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.62736655874097E-4	0.04
18	67721531	A	T	18	70054295	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.61446953853067	0.534
18	67721532	G	A	18	70054296	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.71693160108125E-5	0.0
18	67721532	G	C	18	70054296	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00160262320430331	0.148
18	67721532	G	T	18	70054296	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00112539983983664	0.122
18	67724970	A	C	18	70057734	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.11713759611921E-5	0.0
18	67724970	A	G	18	70057734	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.11713759611921E-5	0.0
18	67724970	A	T	18	70057734	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.48306501328221E-5	0.0
18	67724971	T	A	18	70057735	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.33141600191487E-5	0.0
18	67724971	T	C	18	70057735	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.27134770067358E-5	0.0
18	67724971	T	G	18	70057735	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.99196838039782E-5	0.0
18	67724972	G	A	18	70057736	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.96674908985408E-5	0.0
18	67724972	G	C	18	70057736	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.70001669499069E-5	0.026
18	67724972	G	T	18	70057736	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.19261097766285E-4	0.024
18	67724973	C	A	18	70057737	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.961255108574418	0.658
18	67724973	C	G	18	70057737	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.656859450607718	0.578
18	67724973	C	T	18	70057737	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.802337459004811	0.678
18	67724974	T	A	18	70057738	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.028605810943792	0.316
18	67724974	T	C	18	70057738	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0234387436433068	0.344
18	67724974	T	G	18	70057738	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0269037725769817	0.324
18	67724975	T	A	18	70057739	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.767132760102233	0.464
18	67724975	T	C	18	70057739	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.52802795303302E-4	0.078
18	67724975	T	G	18	70057739	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.53764524181779	0.486
18	67724976	A	C	18	70057740	y	y	splicing	RTTN(NM_173630:exon38:c.5031+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.5031+2T>G;ENST00000583043:exon32:c.4312+2T>G;ENST00000454359:exon37:c.4942+2T>G;ENST00000581161:exon37:c.4848+2T>G)	.	.	0.999988247793601	0.926
18	67724976	A	G	18	70057740	y	y	splicing	RTTN(NM_173630:exon38:c.5031+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.5031+2T>C;ENST00000583043:exon32:c.4312+2T>C;ENST00000454359:exon37:c.4942+2T>C;ENST00000581161:exon37:c.4848+2T>C)	.	.	0.98918007292081	0.638
18	67724976	A	T	18	70057740	y	y	splicing	RTTN(NM_173630:exon38:c.5031+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.5031+2T>A;ENST00000583043:exon32:c.4312+2T>A;ENST00000454359:exon37:c.4942+2T>A;ENST00000581161:exon37:c.4848+2T>A)	.	.	0.999988247793601	0.914
18	67724977	C	A	18	70057741	y	y	splicing	RTTN(NM_173630:exon38:c.5031+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.5031+1G>T;ENST00000583043:exon32:c.4312+1G>T;ENST00000454359:exon37:c.4942+1G>T;ENST00000581161:exon37:c.4848+1G>T)	.	.	0.999985532734767	0.934
18	67724977	C	G	18	70057741	y	y	splicing	RTTN(NM_173630:exon38:c.5031+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.5031+1G>C;ENST00000583043:exon32:c.4312+1G>C;ENST00000454359:exon37:c.4942+1G>C;ENST00000581161:exon37:c.4848+1G>C)	.	.	0.999985532734767	0.934
18	67724977	C	T	18	70057741	y	y	splicing	RTTN(NM_173630:exon38:c.5031+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.5031+1G>A;ENST00000583043:exon32:c.4312+1G>A;ENST00000454359:exon37:c.4942+1G>A;ENST00000581161:exon37:c.4848+1G>A)	.	.	0.999985532734767	0.934
18	67724978	C	A	18	70057742	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.G5031T:p.Q1677H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.G5031T:p.Q1677H;	0.987719152444273	0.95
18	67724978	C	G	18	70057742	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.G5031C:p.Q1677H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.G5031C:p.Q1677H;	0.995146889933198	0.896
18	67724978	C	T	18	70057742	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon37:c.G5031A:p.Q1677Q;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.G5031A:p.Q1677Q;	0.820834484890782	0.632
18	67724979	T	A	18	70057743	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.A5030T:p.Q1677L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.A5030T:p.Q1677L;	0.986749344083904	0.566
18	67724979	T	C	18	70057743	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.A5030G:p.Q1677R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.A5030G:p.Q1677R;	0.995653270551914	0.926
18	67724979	T	G	18	70057743	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.A5030C:p.Q1677P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.A5030C:p.Q1677P;	0.992028050205222	0.85
18	67724980	G	A	18	70057744	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon37:c.C5029T:p.Q1677X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon37:c.C5029T:p.Q1677X;	0.995950782759727	0.754
18	67724980	G	C	18	70057744	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.C5029G:p.Q1677E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.C5029G:p.Q1677E;	0.883328034654879	0.592
18	67724980	G	T	18	70057744	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.C5029A:p.Q1677K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.C5029A:p.Q1677K;	0.932773493029348	0.794
18	67725067	T	A	18	70057831	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.A4942T:p.I1648F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.A4942T:p.I1648F;	5.2726721620503E-4	0.004
18	67725067	T	C	18	70057831	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.A4942G:p.I1648V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.A4942G:p.I1648V;	1.57742668378169E-4	0.012
18	67725067	T	G	18	70057831	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.A4942C:p.I1648L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.A4942C:p.I1648L;	1.18395792933073E-4	0.024
18	67725068	G	A	18	70057832	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon37:c.C4941T:p.S1647S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.C4941T:p.S1647S;	2.07529097260679E-4	0.076
18	67725068	G	C	18	70057832	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.C4941G:p.S1647R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.C4941G:p.S1647R;	8.3217130168474E-5	0.224
18	67725068	G	T	18	70057832	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon37:c.C4941A:p.S1647R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon37:c.C4941A:p.S1647R;	2.17259769657437E-5	0.066
18	67725069	C	A	18	70057833	y	y	splicing	RTTN(NM_173630:exon38:c.4941-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.4941-1G>T;ENST00000583043:exon32:c.4222-1G>T;ENST00000454359:exon37:c.4852-1G>T;ENST00000581161:exon37:c.4758-1G>T)	.	.	0.999947942014418	0.95
18	67725069	C	G	18	70057833	y	y	splicing	RTTN(NM_173630:exon38:c.4941-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.4941-1G>C;ENST00000583043:exon32:c.4222-1G>C;ENST00000454359:exon37:c.4852-1G>C;ENST00000581161:exon37:c.4758-1G>C)	.	.	0.999947942014418	0.95
18	67725069	C	T	18	70057833	y	y	splicing	RTTN(NM_173630:exon38:c.4941-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.4941-1G>A;ENST00000583043:exon32:c.4222-1G>A;ENST00000454359:exon37:c.4852-1G>A;ENST00000581161:exon37:c.4758-1G>A)	.	.	0.999947942014418	0.952
18	67725070	T	A	18	70057834	y	y	splicing	RTTN(NM_173630:exon38:c.4941-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.4941-2A>T;ENST00000583043:exon32:c.4222-2A>T;ENST00000454359:exon37:c.4852-2A>T;ENST00000581161:exon37:c.4758-2A>T)	.	.	0.999957711392063	0.958
18	67725070	T	C	18	70057834	y	y	splicing	RTTN(NM_173630:exon38:c.4941-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.4941-2A>G;ENST00000583043:exon32:c.4222-2A>G;ENST00000454359:exon37:c.4852-2A>G;ENST00000581161:exon37:c.4758-2A>G)	.	.	0.999957711392063	0.956
18	67725070	T	G	18	70057834	y	y	splicing	RTTN(NM_173630:exon38:c.4941-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon38:c.4941-2A>C;ENST00000583043:exon32:c.4222-2A>C;ENST00000454359:exon37:c.4852-2A>C;ENST00000581161:exon37:c.4758-2A>C)	.	.	0.999957711392063	0.954
18	67725071	G	A	18	70057835	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00209429539119718	0.224
18	67725071	G	C	18	70057835	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999703111529642	0.672
18	67725071	G	T	18	70057835	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.993917320870639	0.864
18	67725072	T	A	18	70057836	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.77191511714313E-4	0.0
18	67725072	T	C	18	70057836	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.68603891864999E-5	0.0
18	67725072	T	G	18	70057836	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.5522627560711E-4	0.06
18	67725073	G	A	18	70057837	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.57224415015791E-5	0.01
18	67725073	G	C	18	70057837	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.24779470967671E-4	0.124
18	67725073	G	T	18	70057837	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.39295778213218E-4	0.13
18	67725074	A	C	18	70057838	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00439660352896572	0.196
18	67725074	A	G	18	70057838	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.63582157631049E-4	0.048
18	67725074	A	T	18	70057838	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00387300575358618	0.194
18	67725075	C	A	18	70057839	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.48044986351306E-5	0.0
18	67725075	C	G	18	70057839	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.31969226614125E-5	0.0
18	67725075	C	T	18	70057839	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.65089210463129E-4	0.03
18	67725076	G	A	18	70057840	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.04364630631664E-5	0.002
18	67725076	G	C	18	70057840	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.65509571076643E-4	0.064
18	67725076	G	T	18	70057840	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996226151765948	0.88
18	67725077	A	C	18	70057841	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999543522438208	0.974
18	67725077	A	G	18	70057841	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.865433414524E-4	0.01
18	67725077	A	T	18	70057841	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0175411184316769	0.214
18	67725078	T	A	18	70057842	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.81216475309008E-5	0.0
18	67725078	T	C	18	70057842	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.23782623616897E-5	0.0
18	67725078	T	G	18	70057842	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.58645906776164E-5	0.0
18	67725079	C	A	18	70057843	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.58800609919459E-5	0.036
18	67725079	C	G	18	70057843	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.58800609919459E-5	0.006
18	67725079	C	T	18	70057843	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.27714423293322E-4	0.006
18	67725080	A	C	18	70057844	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00404023261941949	0.174
18	67725080	A	G	18	70057844	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.98230346095707E-4	0.048
18	67725080	A	T	18	70057844	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997269815671619	0.846
18	67727078	T	A	18	70059842	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.87550293507958E-4	0.008
18	67727078	T	C	18	70059842	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.67679913559519E-4	0.004
18	67727078	T	G	18	70059842	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.77987366268388E-4	0.004
18	67727079	C	A	18	70059843	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00288313374233757	0.05
18	67727079	C	G	18	70059843	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00318349000102271	0.018
18	67727079	C	T	18	70059843	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00420642243939429	0.026
18	67727080	T	A	18	70059844	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.69939351540796E-5	0.0
18	67727080	T	C	18	70059844	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.25378625773309E-5	0.0
18	67727080	T	G	18	70059844	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.26482845327437E-5	0.01
18	67727081	C	A	18	70059845	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.941363843086196	0.736
18	67727081	C	G	18	70059845	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.950910154592283	0.808
18	67727081	C	T	18	70059845	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997684334012394	0.87
18	67727082	T	A	18	70059846	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.583648145688784	0.504
18	67727082	T	C	18	70059846	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.739792137987079	0.454
18	67727082	T	G	18	70059846	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.592485811628188	0.532
18	67727083	T	A	18	70059847	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.98521575615169	0.718
18	67727083	T	C	18	70059847	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0460462035919831	0.208
18	67727083	T	G	18	70059847	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.95319815728511	0.66
18	67727084	A	C	18	70059848	y	y	splicing	RTTN(NM_173630:exon37:c.4940+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4940+2T>G;ENST00000583043:exon31:c.4221+2T>G;ENST00000454359:exon36:c.4851+2T>G;ENST00000581161:exon36:c.4757+2T>G)	.	.	0.999989917668626	0.926
18	67727084	A	G	18	70059848	y	y	splicing	RTTN(NM_173630:exon37:c.4940+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4940+2T>C;ENST00000583043:exon31:c.4221+2T>C;ENST00000454359:exon36:c.4851+2T>C;ENST00000581161:exon36:c.4757+2T>C)	.	.	0.993874972009198	0.644
18	67727084	A	T	18	70059848	y	y	splicing	RTTN(NM_173630:exon37:c.4940+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4940+2T>A;ENST00000583043:exon31:c.4221+2T>A;ENST00000454359:exon36:c.4851+2T>A;ENST00000581161:exon36:c.4757+2T>A)	.	.	0.999989917668626	0.926
18	67727085	C	A	18	70059849	y	y	splicing	RTTN(NM_173630:exon37:c.4940+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4940+1G>T;ENST00000583043:exon31:c.4221+1G>T;ENST00000454359:exon36:c.4851+1G>T;ENST00000581161:exon36:c.4757+1G>T)	.	.	0.999981760802075	0.938
18	67727085	C	G	18	70059849	y	y	splicing	RTTN(NM_173630:exon37:c.4940+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4940+1G>C;ENST00000583043:exon31:c.4221+1G>C;ENST00000454359:exon36:c.4851+1G>C;ENST00000581161:exon36:c.4757+1G>C)	.	.	0.999981760802075	0.938
18	67727085	C	T	18	70059849	y	y	splicing	RTTN(NM_173630:exon37:c.4940+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4940+1G>A;ENST00000583043:exon31:c.4221+1G>A;ENST00000454359:exon36:c.4851+1G>A;ENST00000581161:exon36:c.4757+1G>A)	.	.	0.999981760802075	0.938
18	67727086	C	A	18	70059850	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.G4940T:p.S1647I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.G4940T:p.S1647I;	0.999960720589607	0.998
18	67727086	C	G	18	70059850	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.G4940C:p.S1647T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.G4940C:p.S1647T;	0.999989424191614	0.996
18	67727086	C	T	18	70059850	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.G4940A:p.S1647N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.G4940A:p.S1647N;	0.999888827779681	0.992
18	67727087	T	A	18	70059851	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.A4939T:p.S1647C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.A4939T:p.S1647C;	0.53027898501885	0.554
18	67727087	T	C	18	70059851	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.A4939G:p.S1647G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.A4939G:p.S1647G;	0.228373466348026	0.45
18	67727087	T	G	18	70059851	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.A4939C:p.S1647R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.A4939C:p.S1647R;	0.276096891479288	0.604
18	67727088	A	C	18	70059852	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.T4938G:p.C1646W;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.T4938G:p.C1646W;	0.531157086186121	0.648
18	67727088	A	G	18	70059852	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon36:c.T4938C:p.C1646C;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.T4938C:p.C1646C;	9.9478695372994E-4	0.016
18	67727088	A	T	18	70059852	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon36:c.T4938A:p.C1646X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000255674:exon36:c.T4938A:p.C1646X;	0.548160343172923	0.772
18	67727277	A	C	18	70060041	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon36:c.T4749G:p.G1583G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.T4749G:p.G1583G;	0.0207233551844839	0.116
18	67727277	A	G	18	70060041	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon36:c.T4749C:p.G1583G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.T4749C:p.G1583G;	0.0284398081222951	0.086
18	67727277	A	T	18	70060041	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon36:c.T4749A:p.G1583G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.T4749A:p.G1583G;	0.0741333757915661	0.17
18	67727278	C	A	18	70060042	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.G4748T:p.G1583V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.G4748T:p.G1583V;	0.998787006942902	0.976
18	67727278	C	G	18	70060042	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.G4748C:p.G1583A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.G4748C:p.G1583A;	0.997738067819821	0.94
18	67727278	C	T	18	70060042	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon36:c.G4748A:p.G1583D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000255674:exon36:c.G4748A:p.G1583D;	0.889851258985171	0.706
18	67727279	C	A	18	70060043	y	y	splicing	RTTN(NM_173630:exon37:c.4748-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4748-1G>T;ENST00000583043:exon31:c.4029-1G>T;ENST00000454359:exon36:c.4659-1G>T;ENST00000581161:exon36:c.4565-1G>T)	.	.	0.999985532734767	0.938
18	67727279	C	G	18	70060043	y	y	splicing	RTTN(NM_173630:exon37:c.4748-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4748-1G>C;ENST00000583043:exon31:c.4029-1G>C;ENST00000454359:exon36:c.4659-1G>C;ENST00000581161:exon36:c.4565-1G>C)	.	.	0.999985532734767	0.938
18	67727279	C	T	18	70060043	y	y	splicing	RTTN(NM_173630:exon37:c.4748-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4748-1G>A;ENST00000583043:exon31:c.4029-1G>A;ENST00000454359:exon36:c.4659-1G>A;ENST00000581161:exon36:c.4565-1G>A)	.	.	0.999985532734767	0.938
18	67727280	T	A	18	70060044	y	y	splicing	RTTN(NM_173630:exon37:c.4748-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4748-2A>T;ENST00000583043:exon31:c.4029-2A>T;ENST00000454359:exon36:c.4659-2A>T;ENST00000581161:exon36:c.4565-2A>T)	.	.	0.999986607513753	0.918
18	67727280	T	C	18	70060044	y	y	splicing	RTTN(NM_173630:exon37:c.4748-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4748-2A>G;ENST00000583043:exon31:c.4029-2A>G;ENST00000454359:exon36:c.4659-2A>G;ENST00000581161:exon36:c.4565-2A>G)	.	.	0.999986607513753	0.908
18	67727280	T	G	18	70060044	y	y	splicing	RTTN(NM_173630:exon37:c.4748-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon37:c.4748-2A>C;ENST00000583043:exon31:c.4029-2A>C;ENST00000454359:exon36:c.4659-2A>C;ENST00000581161:exon36:c.4565-2A>C)	.	.	0.999986607513753	0.908
18	67727281	A	C	18	70060045	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.990723551605218	0.682
18	67727281	A	G	18	70060045	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.40494622675758E-4	0.01
18	67727281	A	T	18	70060045	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00640097519417524	0.322
18	67727282	T	A	18	70060046	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.9988596976569E-5	0.012
18	67727282	T	C	18	70060046	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.990070339863524	0.762
18	67727282	T	G	18	70060046	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.02597413795201E-5	0.002
18	67727283	T	A	18	70060047	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.25890481137994E-5	0.03
18	67727283	T	C	18	70060047	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.53200954525579E-5	0.0
18	67727283	T	G	18	70060047	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.69205221001052E-5	0.0
18	67727284	A	C	18	70060048	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999736184269988	0.944
18	67727284	A	G	18	70060048	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00114430266812778	0.016
18	67727284	A	T	18	70060048	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.497671070644067	0.496
18	67727285	T	A	18	70060049	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.95076949036759E-5	0.0
18	67727285	T	C	18	70060049	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.940846073208094	0.924
18	67727285	T	G	18	70060049	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.4025672634296E-5	0.002
18	67727286	T	A	18	70060050	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.18498239749302E-4	0.004
18	67727286	T	C	18	70060050	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.57185777444232E-5	0.004
18	67727286	T	G	18	70060050	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.51983032046199E-5	0.0
18	67727287	G	A	18	70060051	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.72956955874062E-4	0.018
18	67727287	G	C	18	70060051	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0128257600266194	0.134
18	67727287	G	T	18	70060051	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0198057717078361	0.106
18	67727288	A	C	18	70060052	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.761961225151476	0.654
18	67727288	A	G	18	70060052	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.52486998144841E-4	0.022
18	67727288	A	T	18	70060052	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.539221486333769	0.672
18	67727289	A	C	18	70060053	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.816330924627843	0.772
18	67727289	A	G	18	70060053	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0510205206323844	0.334
18	67727289	A	T	18	70060053	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.945904591403664	0.808
18	67727290	A	C	18	70060054	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0448951596103963	0.506
18	67727290	A	G	18	70060054	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.66120047129366E-4	0.034
18	67727290	A	T	18	70060054	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0998362192165373	0.54
18	67728635	C	A	18	70061399	n	y	intronic	RTTN	.	.	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon36:c.G4749T:p.G1583G;	2.34821430519508E-5	0.004
18	67728635	C	G	18	70061399	n	y	intronic	RTTN	.	.	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon36:c.G4749C:p.G1583G;	2.34821430519508E-5	0.004
18	67728635	C	T	18	70061399	n	y	intronic	RTTN	.	.	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon36:c.G4749A:p.G1583G;	2.34821430519508E-5	0.004
18	67728636	C	A	18	70061400	n	y	intronic	RTTN	.	.	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon36:c.G4748T:p.G1583V;	3.31929338280547E-5	0.0
18	67728636	C	G	18	70061400	n	y	intronic	RTTN	.	.	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon36:c.G4748C:p.G1583A;	6.89925739660516E-5	0.004
18	67728636	C	T	18	70061400	n	y	intronic	RTTN	.	.	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon36:c.G4748A:p.G1583E;	8.18429645671592E-5	0.0
18	67728637	C	A	18	70061401	n	y	intronic	RTTN	.	.	splicing	ENSG00000176225(ENST00000437017:exon37:c.4748-1G>T)	.	.	4.99328296935829E-5	0.012
18	67728637	C	G	18	70061401	n	y	intronic	RTTN	.	.	splicing	ENSG00000176225(ENST00000437017:exon37:c.4748-1G>C)	.	.	4.99328296935829E-5	0.014
18	67728637	C	T	18	70061401	n	y	intronic	RTTN	.	.	splicing	ENSG00000176225(ENST00000437017:exon37:c.4748-1G>A)	.	.	4.99328296935829E-5	0.016
18	67728638	T	A	18	70061402	n	y	intronic	RTTN	.	.	splicing	ENSG00000176225(ENST00000437017:exon37:c.4748-2A>T)	.	.	1.69884688945688E-4	0.004
18	67728638	T	C	18	70061402	n	y	intronic	RTTN	.	.	splicing	ENSG00000176225(ENST00000437017:exon37:c.4748-2A>G)	.	.	2.27163650926202E-4	0.018
18	67728638	T	G	18	70061402	n	y	intronic	RTTN	.	.	splicing	ENSG00000176225(ENST00000437017:exon37:c.4748-2A>C)	.	.	2.27163650926202E-4	0.02
18	67728639	A	C	18	70061403	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.19654958573966E-5	0.014
18	67728639	A	G	18	70061403	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.19654958573966E-5	0.014
18	67728639	A	T	18	70061403	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.19654958573966E-5	0.018
18	67728640	A	C	18	70061404	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728640	A	G	18	70061404	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728640	A	T	18	70061404	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728641	A	C	18	70061405	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728641	A	G	18	70061405	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728641	A	T	18	70061405	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728642	G	A	18	70061406	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.45277156108894E-5	0.0
18	67728642	G	C	18	70061406	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.33833472525359E-5	0.002
18	67728642	G	T	18	70061406	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.45277156108894E-5	0.0
18	67728643	T	A	18	70061407	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728643	T	C	18	70061407	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728643	T	G	18	70061407	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99153316237132E-5	0.0
18	67728644	G	A	18	70061408	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.45277156108894E-5	0.0
18	67728644	G	C	18	70061408	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.33833472525359E-5	0.002
18	67728644	G	T	18	70061408	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.45277156108894E-5	0.0
18	67728645	G	A	18	70061409	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.45277156108894E-5	0.0
18	67728645	G	C	18	70061409	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.45277156108894E-5	0.0
18	67728645	G	T	18	70061409	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.45277156108894E-5	0.0
18	67728646	A	C	18	70061410	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.57123356397867E-5	0.008
18	67728646	A	G	18	70061410	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.57123356397867E-5	0.008
18	67728646	A	T	18	70061410	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.57123356397867E-5	0.008
18	67728647	G	A	18	70061411	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.4631346304159E-5	0.004
18	67728647	G	C	18	70061411	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.4631346304159E-5	0.004
18	67728647	G	T	18	70061411	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.4631346304159E-5	0.004
18	67728648	A	C	18	70061412	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.57123356397867E-5	0.008
18	67728648	A	G	18	70061412	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.57123356397867E-5	0.008
18	67728648	A	T	18	70061412	n	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.57123356397867E-5	0.008
18	67733057	A	C	18	70065821	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00417288489973317	0.096
18	67733057	A	G	18	70065821	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00253925352574168	0.018
18	67733057	A	T	18	70065821	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00455504117110008	0.072
18	67733058	A	C	18	70065822	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.33069379260715E-4	0.004
18	67733058	A	G	18	70065822	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.33069379260715E-4	0.004
18	67733058	A	T	18	70065822	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.17847354957943E-4	0.004
18	67733059	G	A	18	70065823	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.27205546912817E-5	0.014
18	67733059	G	C	18	70065823	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.1380052497568E-5	0.028
18	67733059	G	T	18	70065823	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.3398250337717E-5	0.008
18	67733060	G	A	18	70065824	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.15612434261991E-4	0.028
18	67733060	G	C	18	70065824	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.442480498667E-4	0.112
18	67733060	G	T	18	70065824	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.58308775189073E-5	0.018
18	67733061	A	C	18	70065825	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.60748265878448E-5	0.0
18	67733061	A	G	18	70065825	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.32133065292898E-4	0.014
18	67733061	A	T	18	70065825	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.13980508187535E-5	0.066
18	67733062	T	A	18	70065826	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999860232845218	0.974
18	67733062	T	C	18	70065826	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.994108931410457	0.888
18	67733062	T	G	18	70065826	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999860232845218	0.96
18	67733063	A	C	18	70065827	y	y	splicing	RTTN(NM_173630:exon36:c.4747+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4747+2T>G;ENST00000583043:exon30:c.4028+2T>G;ENST00000454359:exon35:c.4658+2T>G;ENST00000581161:exon35:c.4564+2T>G;ENST00000437017:exon36:c.4747+2T>G)	.	.	0.99993872479901	0.952
18	67733063	A	G	18	70065827	y	y	splicing	RTTN(NM_173630:exon36:c.4747+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4747+2T>C;ENST00000583043:exon30:c.4028+2T>C;ENST00000454359:exon35:c.4658+2T>C;ENST00000581161:exon35:c.4564+2T>C;ENST00000437017:exon36:c.4747+2T>C)	.	.	0.964188121154496	0.74
18	67733063	A	T	18	70065827	y	y	splicing	RTTN(NM_173630:exon36:c.4747+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4747+2T>A;ENST00000583043:exon30:c.4028+2T>A;ENST00000454359:exon35:c.4658+2T>A;ENST00000581161:exon35:c.4564+2T>A;ENST00000437017:exon36:c.4747+2T>A)	.	.	0.99993872479901	0.938
18	67733064	C	A	18	70065828	y	y	splicing	RTTN(NM_173630:exon36:c.4747+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4747+1G>T;ENST00000583043:exon30:c.4028+1G>T;ENST00000454359:exon35:c.4658+1G>T;ENST00000581161:exon35:c.4564+1G>T;ENST00000437017:exon36:c.4747+1G>T)	.	.	0.999943021995213	0.936
18	67733064	C	G	18	70065828	y	y	splicing	RTTN(NM_173630:exon36:c.4747+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4747+1G>C;ENST00000583043:exon30:c.4028+1G>C;ENST00000454359:exon35:c.4658+1G>C;ENST00000581161:exon35:c.4564+1G>C;ENST00000437017:exon36:c.4747+1G>C)	.	.	0.999943021995213	0.944
18	67733064	C	T	18	70065828	y	y	splicing	RTTN(NM_173630:exon36:c.4747+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4747+1G>A;ENST00000583043:exon30:c.4028+1G>A;ENST00000454359:exon35:c.4658+1G>A;ENST00000581161:exon35:c.4564+1G>A;ENST00000437017:exon36:c.4747+1G>A)	.	.	0.999943021995213	0.93
18	67733065	C	A	18	70065829	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.G4747T:p.G1583C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.G4747T:p.G1583W;ENSG00000176225:ENST00000255674:exon35:c.G4747T:p.G1583C;	0.999989604013373	0.994
18	67733065	C	G	18	70065829	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.G4747C:p.G1583R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.G4747C:p.G1583R;ENSG00000176225:ENST00000255674:exon35:c.G4747C:p.G1583R;	0.999995196761208	0.996
18	67733065	C	T	18	70065829	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.G4747A:p.G1583S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.G4747A:p.G1583R;ENSG00000176225:ENST00000255674:exon35:c.G4747A:p.G1583S;	0.999994626095114	1.0
18	67733066	T	A	18	70065830	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.A4746T:p.Q1582H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.A4746T:p.Q1582H;ENSG00000176225:ENST00000255674:exon35:c.A4746T:p.Q1582H;	0.999971766272691	0.988
18	67733066	T	C	18	70065830	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon35:c.A4746G:p.Q1582Q;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.A4746G:p.Q1582Q;ENSG00000176225:ENST00000255674:exon35:c.A4746G:p.Q1582Q;	0.995966385036876	0.92
18	67733066	T	G	18	70065830	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.A4746C:p.Q1582H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.A4746C:p.Q1582H;ENSG00000176225:ENST00000255674:exon35:c.A4746C:p.Q1582H;	0.999943281526542	1.0
18	67733067	T	A	18	70065831	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.A4745T:p.Q1582L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.A4745T:p.Q1582L;ENSG00000176225:ENST00000255674:exon35:c.A4745T:p.Q1582L;	0.656989496865949	0.586
18	67733067	T	C	18	70065831	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.A4745G:p.Q1582R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.A4745G:p.Q1582R;ENSG00000176225:ENST00000255674:exon35:c.A4745G:p.Q1582R;	0.00822612702361434	0.172
18	67733067	T	G	18	70065831	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.A4745C:p.Q1582P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.A4745C:p.Q1582P;ENSG00000176225:ENST00000255674:exon35:c.A4745C:p.Q1582P;	5.93261544930437E-4	0.008
18	67733157	A	C	18	70065921	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.T4655G:p.V1552G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.T4655G:p.V1552G;ENSG00000176225:ENST00000255674:exon35:c.T4655G:p.V1552G;	0.800508867874365	0.522
18	67733157	A	G	18	70065921	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.T4655C:p.V1552A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.T4655C:p.V1552A;ENSG00000176225:ENST00000255674:exon35:c.T4655C:p.V1552A;	0.629159877151993	0.608
18	67733157	A	T	18	70065921	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.T4655A:p.V1552E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.T4655A:p.V1552E;ENSG00000176225:ENST00000255674:exon35:c.T4655A:p.V1552E;	0.755828123079108	0.516
18	67733158	C	A	18	70065922	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.G4654T:p.V1552L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.G4654T:p.V1552L;ENSG00000176225:ENST00000255674:exon35:c.G4654T:p.V1552L;	0.99898059863376	0.984
18	67733158	C	G	18	70065922	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.G4654C:p.V1552L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.G4654C:p.V1552L;ENSG00000176225:ENST00000255674:exon35:c.G4654C:p.V1552L;	0.99831212871072	0.916
18	67733158	C	T	18	70065922	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon35:c.G4654A:p.V1552M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon35:c.G4654A:p.V1552M;ENSG00000176225:ENST00000255674:exon35:c.G4654A:p.V1552M;	0.969464083944695	0.824
18	67733159	C	A	18	70065923	y	y	splicing	RTTN(NM_173630:exon36:c.4654-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4654-1G>T;ENST00000583043:exon30:c.3935-1G>T;ENST00000454359:exon35:c.4565-1G>T;ENST00000581161:exon35:c.4471-1G>T;ENST00000437017:exon36:c.4654-1G>T)	.	.	0.999990361384395	0.938
18	67733159	C	G	18	70065923	y	y	splicing	RTTN(NM_173630:exon36:c.4654-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4654-1G>C;ENST00000583043:exon30:c.3935-1G>C;ENST00000454359:exon35:c.4565-1G>C;ENST00000581161:exon35:c.4471-1G>C;ENST00000437017:exon36:c.4654-1G>C)	.	.	0.999982737877662	0.938
18	67733159	C	T	18	70065923	y	y	splicing	RTTN(NM_173630:exon36:c.4654-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4654-1G>A;ENST00000583043:exon30:c.3935-1G>A;ENST00000454359:exon35:c.4565-1G>A;ENST00000581161:exon35:c.4471-1G>A;ENST00000437017:exon36:c.4654-1G>A)	.	.	0.999990361384395	0.938
18	67733160	T	A	18	70065924	y	y	splicing	RTTN(NM_173630:exon36:c.4654-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4654-2A>T;ENST00000583043:exon30:c.3935-2A>T;ENST00000454359:exon35:c.4565-2A>T;ENST00000581161:exon35:c.4471-2A>T;ENST00000437017:exon36:c.4654-2A>T)	.	.	0.999988247793601	0.926
18	67733160	T	C	18	70065924	y	y	splicing	RTTN(NM_173630:exon36:c.4654-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4654-2A>G;ENST00000583043:exon30:c.3935-2A>G;ENST00000454359:exon35:c.4565-2A>G;ENST00000581161:exon35:c.4471-2A>G;ENST00000437017:exon36:c.4654-2A>G)	.	.	0.999978952611685	0.928
18	67733160	T	G	18	70065924	y	y	splicing	RTTN(NM_173630:exon36:c.4654-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon36:c.4654-2A>C;ENST00000583043:exon30:c.3935-2A>C;ENST00000454359:exon35:c.4565-2A>C;ENST00000581161:exon35:c.4471-2A>C;ENST00000437017:exon36:c.4654-2A>C)	.	.	0.999978952611685	0.928
18	67733161	A	C	18	70065925	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.879920447658761	0.698
18	67733161	A	G	18	70065925	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.08000305508517E-5	0.002
18	67733161	A	T	18	70065925	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.50027609887437E-4	0.2
18	67733162	T	A	18	70065926	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.19688683538316E-5	0.0
18	67733162	T	C	18	70065926	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.55661931900611E-4	0.002
18	67733162	T	G	18	70065926	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.64795676138487E-5	0.0
18	67733163	G	A	18	70065927	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.54583938149095E-4	0.034
18	67733163	G	C	18	70065927	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0047940870826188	0.08
18	67733163	G	T	18	70065927	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00621680124928593	0.082
18	67733164	A	C	18	70065928	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.378762585917889	0.356
18	67733164	A	G	18	70065928	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.13285147853314E-5	0.032
18	67733164	A	T	18	70065928	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0835735578776788	0.196
18	67733165	A	C	18	70065929	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999974701216415	0.922
18	67733165	A	G	18	70065929	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.07476494511398E-5	0.0
18	67733165	A	T	18	70065929	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0135297667556427	0.19
18	67733166	T	A	18	70065930	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.61706536718577E-5	0.066
18	67733166	T	C	18	70065930	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.57881668550153E-4	0.002
18	67733166	T	G	18	70065930	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.36214937138556E-5	0.004
18	67733167	C	A	18	70065931	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.0008915802926E-4	0.076
18	67733167	C	G	18	70065931	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.39961878190869E-4	0.028
18	67733167	C	T	18	70065931	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.012535593059495	0.118
18	67733168	A	C	18	70065932	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.994113678234318	0.88
18	67733168	A	G	18	70065932	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.145628900090604	0.298
18	67733168	A	T	18	70065932	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999951002695583	0.97
18	67733169	G	A	18	70065933	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.48658778155895E-4	0.022
18	67733169	G	C	18	70065933	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999921073054148	0.972
18	67733169	G	T	18	70065933	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00721934895132298	0.092
18	67733170	T	A	18	70065934	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.54746126251077E-4	0.022
18	67733170	T	C	18	70065934	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.21636843479762E-4	0.06
18	67733170	T	G	18	70065934	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.00100029973866E-4	0.064
18	67741134	G	A	18	70073898	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.03386880027524E-4	0.006
18	67741134	G	C	18	70073898	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00153002241082652	0.298
18	67741134	G	T	18	70073898	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00289779214642926	0.314
18	67741135	C	A	18	70073899	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.37484283164313E-4	0.04
18	67741135	C	G	18	70073899	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.27958677598835E-4	0.026
18	67741135	C	T	18	70073899	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.91068700768859E-4	0.034
18	67741136	A	C	18	70073900	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.303844640609128	0.386
18	67741136	A	G	18	70073900	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.737258552601631	0.706
18	67741136	A	T	18	70073900	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.707751008778312	0.646
18	67741137	A	C	18	70073901	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.06846280408883E-4	0.072
18	67741137	A	G	18	70073901	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.18723993359285E-4	0.03
18	67741137	A	T	18	70073901	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.42345919612699E-4	0.034
18	67741138	G	A	18	70073902	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.12869754957524E-4	0.142
18	67741138	G	C	18	70073902	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00598038281455073	0.22
18	67741138	G	T	18	70073902	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.31997969280772E-4	0.058
18	67741139	T	A	18	70073903	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999977953535315	0.986
18	67741139	T	C	18	70073903	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998245678205349	0.962
18	67741139	T	G	18	70073903	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999971946230535	0.988
18	67741140	A	C	18	70073904	y	y	splicing	RTTN(NM_173630:exon35:c.4653+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4653+2T>G;ENST00000583043:exon29:c.3934+2T>G;ENST00000454359:exon34:c.4564+2T>G;ENST00000581161:exon34:c.4470+2T>G;ENST00000437017:exon35:c.4653+2T>G)	.	.	0.999988247793601	0.952
18	67741140	A	G	18	70073904	y	y	splicing	RTTN(NM_173630:exon35:c.4653+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4653+2T>C;ENST00000583043:exon29:c.3934+2T>C;ENST00000454359:exon34:c.4564+2T>C;ENST00000581161:exon34:c.4470+2T>C;ENST00000437017:exon35:c.4653+2T>C)	.	.	0.996218475494576	0.698
18	67741140	A	T	18	70073904	y	y	splicing	RTTN(NM_173630:exon35:c.4653+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4653+2T>A;ENST00000583043:exon29:c.3934+2T>A;ENST00000454359:exon34:c.4564+2T>A;ENST00000581161:exon34:c.4470+2T>A;ENST00000437017:exon35:c.4653+2T>A)	.	.	0.999988247793601	0.952
18	67741141	C	A	18	70073905	y	y	splicing	RTTN(NM_173630:exon35:c.4653+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4653+1G>T;ENST00000583043:exon29:c.3934+1G>T;ENST00000454359:exon34:c.4564+1G>T;ENST00000581161:exon34:c.4470+1G>T;ENST00000437017:exon35:c.4653+1G>T)	.	.	0.999989072007339	0.95
18	67741141	C	G	18	70073905	y	y	splicing	RTTN(NM_173630:exon35:c.4653+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4653+1G>C;ENST00000583043:exon29:c.3934+1G>C;ENST00000454359:exon34:c.4564+1G>C;ENST00000581161:exon34:c.4470+1G>C;ENST00000437017:exon35:c.4653+1G>C)	.	.	0.999989072007339	0.95
18	67741141	C	T	18	70073905	y	y	splicing	RTTN(NM_173630:exon35:c.4653+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4653+1G>A;ENST00000583043:exon29:c.3934+1G>A;ENST00000454359:exon34:c.4564+1G>A;ENST00000581161:exon34:c.4470+1G>A;ENST00000437017:exon35:c.4653+1G>A)	.	.	0.999989072007339	0.95
18	67741142	C	A	18	70073906	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon34:c.G4653T:p.T1551T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.G4653T:p.T1551T;ENSG00000176225:ENST00000255674:exon34:c.G4653T:p.T1551T;	0.999991217565342	1.0
18	67741142	C	G	18	70073906	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon34:c.G4653C:p.T1551T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.G4653C:p.T1551T;ENSG00000176225:ENST00000255674:exon34:c.G4653C:p.T1551T;	0.999994295521399	0.98
18	67741142	C	T	18	70073906	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon34:c.G4653A:p.T1551T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.G4653A:p.T1551T;ENSG00000176225:ENST00000255674:exon34:c.G4653A:p.T1551T;	0.999995935751007	1.0
18	67741143	G	A	18	70073907	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.C4652T:p.T1551M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.C4652T:p.T1551M;ENSG00000176225:ENST00000255674:exon34:c.C4652T:p.T1551M;	6.66937585887132E-4	0.156
18	67741143	G	C	18	70073907	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.C4652G:p.T1551R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.C4652G:p.T1551R;ENSG00000176225:ENST00000255674:exon34:c.C4652G:p.T1551R;	0.00204455178468507	0.136
18	67741143	G	T	18	70073907	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.C4652A:p.T1551K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.C4652A:p.T1551K;ENSG00000176225:ENST00000255674:exon34:c.C4652A:p.T1551K;	2.74368804730155E-5	0.15
18	67741144	T	A	18	70073908	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.A4651T:p.T1551S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.A4651T:p.T1551S;ENSG00000176225:ENST00000255674:exon34:c.A4651T:p.T1551S;	0.989464381789793	0.698
18	67741144	T	C	18	70073908	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.A4651G:p.T1551A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.A4651G:p.T1551A;ENSG00000176225:ENST00000255674:exon34:c.A4651G:p.T1551A;	0.572216425739115	0.468
18	67741144	T	G	18	70073908	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.A4651C:p.T1551P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.A4651C:p.T1551P;ENSG00000176225:ENST00000255674:exon34:c.A4651C:p.T1551P;	0.774445896573855	0.44
18	67741229	A	C	18	70073993	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon34:c.T4566G:p.G1522G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.T4566G:p.G1522G;ENSG00000176225:ENST00000255674:exon34:c.T4566G:p.G1522G;	0.00432830245437033	0.206
18	67741229	A	G	18	70073993	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon34:c.T4566C:p.G1522G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.T4566C:p.G1522G;ENSG00000176225:ENST00000255674:exon34:c.T4566C:p.G1522G;	0.00504682887545962	0.22
18	67741229	A	T	18	70073993	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon34:c.T4566A:p.G1522G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.T4566A:p.G1522G;ENSG00000176225:ENST00000255674:exon34:c.T4566A:p.G1522G;	0.00158758007285108	0.18
18	67741230	C	A	18	70073994	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.G4565T:p.G1522V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.G4565T:p.G1522V;ENSG00000176225:ENST00000255674:exon34:c.G4565T:p.G1522V;	0.999895432528109	0.986
18	67741230	C	G	18	70073994	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.G4565C:p.G1522A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.G4565C:p.G1522A;ENSG00000176225:ENST00000255674:exon34:c.G4565C:p.G1522A;	0.999028012848699	0.962
18	67741230	C	T	18	70073994	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon34:c.G4565A:p.G1522D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon34:c.G4565A:p.G1522D;ENSG00000176225:ENST00000255674:exon34:c.G4565A:p.G1522D;	0.0993098628029642	0.558
18	67741231	C	A	18	70073995	y	y	splicing	RTTN(NM_173630:exon35:c.4565-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4565-1G>T;ENST00000583043:exon29:c.3846-1G>T;ENST00000454359:exon34:c.4476-1G>T;ENST00000581161:exon34:c.4382-1G>T;ENST00000437017:exon35:c.4565-1G>T)	.	.	0.999989072007339	0.934
18	67741231	C	G	18	70073995	y	y	splicing	RTTN(NM_173630:exon35:c.4565-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4565-1G>C;ENST00000583043:exon29:c.3846-1G>C;ENST00000454359:exon34:c.4476-1G>C;ENST00000581161:exon34:c.4382-1G>C;ENST00000437017:exon35:c.4565-1G>C)	.	.	0.999989072007339	0.934
18	67741231	C	T	18	70073995	y	y	splicing	RTTN(NM_173630:exon35:c.4565-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4565-1G>A;ENST00000583043:exon29:c.3846-1G>A;ENST00000454359:exon34:c.4476-1G>A;ENST00000581161:exon34:c.4382-1G>A;ENST00000437017:exon35:c.4565-1G>A)	.	.	0.999989072007339	0.934
18	67741232	T	A	18	70073996	y	y	splicing	RTTN(NM_173630:exon35:c.4565-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4565-2A>T;ENST00000583043:exon29:c.3846-2A>T;ENST00000454359:exon34:c.4476-2A>T;ENST00000581161:exon34:c.4382-2A>T;ENST00000437017:exon35:c.4565-2A>T)	.	.	0.999988247793601	0.932
18	67741232	T	C	18	70073996	y	y	splicing	RTTN(NM_173630:exon35:c.4565-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4565-2A>G;ENST00000583043:exon29:c.3846-2A>G;ENST00000454359:exon34:c.4476-2A>G;ENST00000581161:exon34:c.4382-2A>G;ENST00000437017:exon35:c.4565-2A>G)	.	.	0.999988247793601	0.932
18	67741232	T	G	18	70073996	y	y	splicing	RTTN(NM_173630:exon35:c.4565-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon35:c.4565-2A>C;ENST00000583043:exon29:c.3846-2A>C;ENST00000454359:exon34:c.4476-2A>C;ENST00000581161:exon34:c.4382-2A>C;ENST00000437017:exon35:c.4565-2A>C)	.	.	0.999988247793601	0.932
18	67741233	G	A	18	70073997	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00183737389924794	0.064
18	67741233	G	C	18	70073997	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.9995624954894	0.97
18	67741233	G	T	18	70073997	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.492205808895756	0.546
18	67741234	C	A	18	70073998	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.25931047745199E-5	0.0
18	67741234	C	G	18	70073998	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.62440732205085E-5	0.0
18	67741234	C	T	18	70073998	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.58395674474952E-5	0.0
18	67741235	A	C	18	70073999	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.638973658714662	0.542
18	67741235	A	G	18	70073999	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00121653547960992	0.016
18	67741235	A	T	18	70073999	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999797694875876	0.948
18	67741236	A	C	18	70074000	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00974892286748725	0.216
18	67741236	A	G	18	70074000	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.95771584432504E-5	0.038
18	67741236	A	T	18	70074000	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00834168333868799	0.18
18	67741237	C	A	18	70074001	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.74408333216962E-5	0.0
18	67741237	C	G	18	70074001	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.32801915675148E-5	0.002
18	67741237	C	T	18	70074001	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.16330345005414E-4	0.022
18	67741238	A	C	18	70074002	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0259627514407668	0.148
18	67741238	A	G	18	70074002	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.93868342963665E-5	0.006
18	67741238	A	T	18	70074002	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999957372250052	0.948
18	67741239	A	C	18	70074003	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.118733475682168	0.506
18	67741239	A	G	18	70074003	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.22428930215014E-4	0.006
18	67741239	A	T	18	70074003	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.229700738684649	0.524
18	67741240	C	A	18	70074004	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.35176480286442E-5	0.0
18	67741240	C	G	18	70074004	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.88765226211698E-6	0.01
18	67741240	C	T	18	70074004	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.56516360710626E-4	0.0
18	67741241	G	A	18	70074005	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.01716698630002E-5	0.0
18	67741241	G	C	18	70074005	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.74609361760592E-4	0.002
18	67741241	G	T	18	70074005	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997702825220878	0.952
18	67741242	A	C	18	70074006	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0269141632602388	0.278
18	67741242	A	G	18	70074006	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.42198538687273E-4	0.01
18	67741242	A	T	18	70074006	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0141344955573168	0.264
18	67742580	G	A	18	70075344	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.83320898566216E-5	0.0
18	67742580	G	C	18	70075344	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.78992142291779E-5	0.002
18	67742580	G	T	18	70075344	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.87544548170259E-5	0.0
18	67742581	T	A	18	70075345	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.59706358747764E-5	0.0
18	67742581	T	C	18	70075345	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.2886448328189E-5	0.0
18	67742581	T	G	18	70075345	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.97728621093963E-5	0.0
18	67742582	A	C	18	70075346	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.51966768879222E-4	0.09
18	67742582	A	G	18	70075346	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00210820273017349	0.124
18	67742582	A	T	18	70075346	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00114876504744941	0.094
18	67742583	C	A	18	70075347	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.975421204435698	0.688
18	67742583	C	G	18	70075347	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99354180416096	0.762
18	67742583	C	T	18	70075347	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.987108322673711	0.77
18	67742584	T	A	18	70075348	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0520599745643731	0.346
18	67742584	T	C	18	70075348	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0237019210813877	0.352
18	67742584	T	G	18	70075348	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.019961435976587	0.264
18	67742585	T	A	18	70075349	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.798724231726741	0.63
18	67742585	T	C	18	70075349	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0262464640849323	0.188
18	67742585	T	G	18	70075349	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.962032934776014	0.654
18	67742586	A	C	18	70075350	y	y	splicing	RTTN(NM_173630:exon34:c.4564+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4564+2T>G;ENST00000583043:exon28:c.3845+2T>G;ENST00000454359:exon33:c.4475+2T>G;ENST00000581161:exon33:c.4381+2T>G;ENST00000437017:exon34:c.4564+2T>G)	.	.	0.999964896440643	0.934
18	67742586	A	G	18	70075350	y	y	splicing	RTTN(NM_173630:exon34:c.4564+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4564+2T>C;ENST00000583043:exon28:c.3845+2T>C;ENST00000454359:exon33:c.4475+2T>C;ENST00000581161:exon33:c.4381+2T>C;ENST00000437017:exon34:c.4564+2T>C)	.	.	0.974850032471317	0.566
18	67742586	A	T	18	70075350	y	y	splicing	RTTN(NM_173630:exon34:c.4564+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4564+2T>A;ENST00000583043:exon28:c.3845+2T>A;ENST00000454359:exon33:c.4475+2T>A;ENST00000581161:exon33:c.4381+2T>A;ENST00000437017:exon34:c.4564+2T>A)	.	.	0.999946188727699	0.936
18	67742587	C	A	18	70075351	y	y	splicing	RTTN(NM_173630:exon34:c.4564+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4564+1G>T;ENST00000583043:exon28:c.3845+1G>T;ENST00000454359:exon33:c.4475+1G>T;ENST00000581161:exon33:c.4381+1G>T;ENST00000437017:exon34:c.4564+1G>T)	.	.	0.999960200702261	0.928
18	67742587	C	G	18	70075351	y	y	splicing	RTTN(NM_173630:exon34:c.4564+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4564+1G>C;ENST00000583043:exon28:c.3845+1G>C;ENST00000454359:exon33:c.4475+1G>C;ENST00000581161:exon33:c.4381+1G>C;ENST00000437017:exon34:c.4564+1G>C)	.	.	0.999960200702261	0.928
18	67742587	C	T	18	70075351	y	y	splicing	RTTN(NM_173630:exon34:c.4564+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4564+1G>A;ENST00000583043:exon28:c.3845+1G>A;ENST00000454359:exon33:c.4475+1G>A;ENST00000581161:exon33:c.4381+1G>A;ENST00000437017:exon34:c.4564+1G>A)	.	.	0.999938990645747	0.93
18	67742588	C	A	18	70075352	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4564T:p.G1522C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4564T:p.G1522C;ENSG00000176225:ENST00000255674:exon33:c.G4564T:p.G1522C;	0.962063363444996	0.646
18	67742588	C	G	18	70075352	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4564C:p.G1522R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4564C:p.G1522R;ENSG00000176225:ENST00000255674:exon33:c.G4564C:p.G1522R;	0.795552509156892	0.674
18	67742588	C	T	18	70075352	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4564A:p.G1522S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4564A:p.G1522S;ENSG00000176225:ENST00000255674:exon33:c.G4564A:p.G1522S;	0.804185720535782	0.644
18	67742589	A	C	18	70075353	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.T4563G:p.N1521K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.T4563G:p.N1521K;ENSG00000176225:ENST00000255674:exon33:c.T4563G:p.N1521K;	0.00315153325841267	0.078
18	67742589	A	G	18	70075353	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon33:c.T4563C:p.N1521N;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.T4563C:p.N1521N;ENSG00000176225:ENST00000255674:exon33:c.T4563C:p.N1521N;	2.77875951460877E-4	0.01
18	67742589	A	T	18	70075353	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.T4563A:p.N1521K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.T4563A:p.N1521K;ENSG00000176225:ENST00000255674:exon33:c.T4563A:p.N1521K;	6.02165614636787E-4	0.118
18	67742590	T	A	18	70075354	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.A4562T:p.N1521I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.A4562T:p.N1521I;ENSG00000176225:ENST00000255674:exon33:c.A4562T:p.N1521I;	0.180282772786536	0.28
18	67742590	T	C	18	70075354	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.A4562G:p.N1521S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.A4562G:p.N1521S;ENSG00000176225:ENST00000255674:exon33:c.A4562G:p.N1521S;	3.71351288652052E-4	0.054
18	67742590	T	G	18	70075354	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.A4562C:p.N1521T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.A4562C:p.N1521T;ENSG00000176225:ENST00000255674:exon33:c.A4562C:p.N1521T;	5.58387794999475E-4	0.01
18	67742776	C	A	18	70075540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4376T:p.G1459V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4376T:p.G1459V;ENSG00000176225:ENST00000255674:exon33:c.G4376T:p.G1459V;	0.96931343801092	0.808
18	67742776	C	G	18	70075540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4376C:p.G1459A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4376C:p.G1459A;ENSG00000176225:ENST00000255674:exon33:c.G4376C:p.G1459A;	0.969291618602378	0.79
18	67742776	C	T	18	70075540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4376A:p.G1459D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4376A:p.G1459D;ENSG00000176225:ENST00000255674:exon33:c.G4376A:p.G1459D;	0.954065122558782	0.802
18	67742777	C	A	18	70075541	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4375T:p.G1459C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4375T:p.G1459C;ENSG00000176225:ENST00000255674:exon33:c.G4375T:p.G1459C;	0.998375290817078	0.832
18	67742777	C	G	18	70075541	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4375C:p.G1459R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4375C:p.G1459R;ENSG00000176225:ENST00000255674:exon33:c.G4375C:p.G1459R;	0.997869990791437	0.79
18	67742777	C	T	18	70075541	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon33:c.G4375A:p.G1459S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon33:c.G4375A:p.G1459S;ENSG00000176225:ENST00000255674:exon33:c.G4375A:p.G1459S;	0.99705417189085	0.74
18	67742778	C	A	18	70075542	y	y	splicing	RTTN(NM_173630:exon34:c.4375-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4375-1G>T;ENST00000583043:exon28:c.3656-1G>T;ENST00000454359:exon33:c.4286-1G>T;ENST00000581161:exon33:c.4192-1G>T;ENST00000437017:exon34:c.4375-1G>T)	.	.	0.999986675681007	0.926
18	67742778	C	G	18	70075542	y	y	splicing	RTTN(NM_173630:exon34:c.4375-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4375-1G>C;ENST00000583043:exon28:c.3656-1G>C;ENST00000454359:exon33:c.4286-1G>C;ENST00000581161:exon33:c.4192-1G>C;ENST00000437017:exon34:c.4375-1G>C)	.	.	0.999976137096505	0.928
18	67742778	C	T	18	70075542	y	y	splicing	RTTN(NM_173630:exon34:c.4375-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4375-1G>A;ENST00000583043:exon28:c.3656-1G>A;ENST00000454359:exon33:c.4286-1G>A;ENST00000581161:exon33:c.4192-1G>A;ENST00000437017:exon34:c.4375-1G>A)	.	.	0.999986675681007	0.926
18	67742779	T	A	18	70075543	y	y	splicing	RTTN(NM_173630:exon34:c.4375-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4375-2A>T;ENST00000583043:exon28:c.3656-2A>T;ENST00000454359:exon33:c.4286-2A>T;ENST00000581161:exon33:c.4192-2A>T;ENST00000437017:exon34:c.4375-2A>T)	.	.	0.999988247793601	0.924
18	67742779	T	C	18	70075543	y	y	splicing	RTTN(NM_173630:exon34:c.4375-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4375-2A>G;ENST00000583043:exon28:c.3656-2A>G;ENST00000454359:exon33:c.4286-2A>G;ENST00000581161:exon33:c.4192-2A>G;ENST00000437017:exon34:c.4375-2A>G)	.	.	0.999978952611685	0.926
18	67742779	T	G	18	70075543	y	y	splicing	RTTN(NM_173630:exon34:c.4375-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon34:c.4375-2A>C;ENST00000583043:exon28:c.3656-2A>C;ENST00000454359:exon33:c.4286-2A>C;ENST00000581161:exon33:c.4192-2A>C;ENST00000437017:exon34:c.4375-2A>C)	.	.	0.999978952611685	0.926
18	67742780	G	A	18	70075544	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00269482261548752	0.176
18	67742780	G	C	18	70075544	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999680672829825	0.84
18	67742780	G	T	18	70075544	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.156318468011585	0.388
18	67742781	T	A	18	70075545	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.4521994663716E-4	0.002
18	67742781	T	C	18	70075545	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.21631586729891E-5	0.002
18	67742781	T	G	18	70075545	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.54695292256413E-5	0.0
18	67742782	A	C	18	70075546	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.91666292490062E-4	0.128
18	67742782	A	G	18	70075546	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.42283715984104E-4	0.02
18	67742782	A	T	18	70075546	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.49805645303044E-4	0.162
18	67742783	G	A	18	70075547	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.82999590256141E-5	0.022
18	67742783	G	C	18	70075547	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.01703479441199E-4	0.15
18	67742783	G	T	18	70075547	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.43932322188872E-4	0.128
18	67742784	G	A	18	70075548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.06717333212547E-5	0.0
18	67742784	G	C	18	70075548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.52339296226269E-4	0.088
18	67742784	G	T	18	70075548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.90666302224017E-4	0.084
18	67742785	A	C	18	70075549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0031304772432614	0.104
18	67742785	A	G	18	70075549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00167270918401301	0.07
18	67742785	A	T	18	70075549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0031304772432614	0.082
18	67742786	A	C	18	70075550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.12621285457519E-4	0.074
18	67742786	A	G	18	70075550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.9601095907054E-4	0.02
18	67742786	A	T	18	70075550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.58869504560846E-4	0.062
18	67742787	G	A	18	70075551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.55955572115086E-5	0.0
18	67742787	G	C	18	70075551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.10213980422312E-5	0.006
18	67742787	G	T	18	70075551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.67397518476168E-4	0.162
18	67742788	A	C	18	70075552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0013839578831629	0.194
18	67742788	A	G	18	70075552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00251497387086749	0.06
18	67742788	A	T	18	70075552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00148090267484037	0.188
18	67742789	G	A	18	70075553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.53158979321216E-5	0.002
18	67742789	G	C	18	70075553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.39269865654324E-5	0.002
18	67742789	G	T	18	70075553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.94984301973042E-5	0.008
18	67753841	T	A	18	70086605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.04722409702744E-5	0.0
18	67753841	T	C	18	70086605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.51510345126976E-5	0.0
18	67753841	T	G	18	70086605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.69858957237674E-5	0.0
18	67753842	C	A	18	70086606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.87635186673125E-4	0.0
18	67753842	C	G	18	70086606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.54550367847517E-5	0.0
18	67753842	C	T	18	70086606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.65858923052279E-5	0.002
18	67753843	A	C	18	70086607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.820415048043496	0.64
18	67753843	A	G	18	70086607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.896765575311684	0.59
18	67753843	A	T	18	70086607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.958578603201502	0.798
18	67753844	C	A	18	70086608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999638473413067	0.79
18	67753844	C	G	18	70086608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999939540551576	0.986
18	67753844	C	T	18	70086608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998257580191156	0.966
18	67753845	C	A	18	70086609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00402331005631573	0.086
18	67753845	C	G	18	70086609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00138802514776289	0.138
18	67753845	C	T	18	70086609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00113006127874448	0.08
18	67753846	C	A	18	70086610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0263071060011588	0.318
18	67753846	C	G	18	70086610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00579755500909412	0.36
18	67753846	C	T	18	70086610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.9653524663842E-4	0.098
18	67753847	A	C	18	70086611	y	y	splicing	RTTN(NM_173630:exon33:c.4374+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4374+2T>G;ENST00000583043:exon27:c.3655+2T>G;ENST00000454359:exon32:c.4285+2T>G;ENST00000581161:exon32:c.4191+2T>G;ENST00000437017:exon33:c.4374+2T>G)	.	.	0.999989917668626	0.948
18	67753847	A	G	18	70086611	y	y	splicing	RTTN(NM_173630:exon33:c.4374+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4374+2T>C;ENST00000583043:exon27:c.3655+2T>C;ENST00000454359:exon32:c.4285+2T>C;ENST00000581161:exon32:c.4191+2T>C;ENST00000437017:exon33:c.4374+2T>C)	.	.	0.999939711763648	0.884
18	67753847	A	T	18	70086611	y	y	splicing	RTTN(NM_173630:exon33:c.4374+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4374+2T>A;ENST00000583043:exon27:c.3655+2T>A;ENST00000454359:exon32:c.4285+2T>A;ENST00000581161:exon32:c.4191+2T>A;ENST00000437017:exon33:c.4374+2T>A)	.	.	0.999989917668626	0.948
18	67753848	C	A	18	70086612	y	y	splicing	RTTN(NM_173630:exon33:c.4374+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4374+1G>T;ENST00000583043:exon27:c.3655+1G>T;ENST00000454359:exon32:c.4285+1G>T;ENST00000581161:exon32:c.4191+1G>T;ENST00000437017:exon33:c.4374+1G>T)	.	.	0.999981760802075	0.954
18	67753848	C	G	18	70086612	y	y	splicing	RTTN(NM_173630:exon33:c.4374+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4374+1G>C;ENST00000583043:exon27:c.3655+1G>C;ENST00000454359:exon32:c.4285+1G>C;ENST00000581161:exon32:c.4191+1G>C;ENST00000437017:exon33:c.4374+1G>C)	.	.	0.999981760802075	0.954
18	67753848	C	T	18	70086612	y	y	splicing	RTTN(NM_173630:exon33:c.4374+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4374+1G>A;ENST00000583043:exon27:c.3655+1G>A;ENST00000454359:exon32:c.4285+1G>A;ENST00000581161:exon32:c.4191+1G>A;ENST00000437017:exon33:c.4374+1G>A)	.	.	0.999981760802075	0.954
18	67753849	C	A	18	70086613	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.G4374T:p.Q1458H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.G4374T:p.Q1458H;ENSG00000176225:ENST00000255674:exon32:c.G4374T:p.Q1458H;	0.999940275455465	0.996
18	67753849	C	G	18	70086613	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.G4374C:p.Q1458H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.G4374C:p.Q1458H;ENSG00000176225:ENST00000255674:exon32:c.G4374C:p.Q1458H;	0.999978917410261	0.99
18	67753849	C	T	18	70086613	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon32:c.G4374A:p.Q1458Q;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.G4374A:p.Q1458Q;ENSG00000176225:ENST00000255674:exon32:c.G4374A:p.Q1458Q;	0.999845052810529	0.992
18	67753850	T	A	18	70086614	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.A4373T:p.Q1458L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.A4373T:p.Q1458L;ENSG00000176225:ENST00000255674:exon32:c.A4373T:p.Q1458L;	0.999861564883546	0.994
18	67753850	T	C	18	70086614	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.A4373G:p.Q1458R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.A4373G:p.Q1458R;ENSG00000176225:ENST00000255674:exon32:c.A4373G:p.Q1458R;	0.999834112230702	0.988
18	67753850	T	G	18	70086614	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.A4373C:p.Q1458P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.A4373C:p.Q1458P;ENSG00000176225:ENST00000255674:exon32:c.A4373C:p.Q1458P;	0.99943462359673	0.982
18	67753851	G	A	18	70086615	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon32:c.C4372T:p.Q1458X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon32:c.C4372T:p.Q1458X;ENSG00000176225:ENST00000255674:exon32:c.C4372T:p.Q1458X;	0.999317853569891	0.948
18	67753851	G	C	18	70086615	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.C4372G:p.Q1458E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.C4372G:p.Q1458E;ENSG00000176225:ENST00000255674:exon32:c.C4372G:p.Q1458E;	0.85931049905452	0.674
18	67753851	G	T	18	70086615	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.C4372A:p.Q1458K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.C4372A:p.Q1458K;ENSG00000176225:ENST00000255674:exon32:c.C4372A:p.Q1458K;	0.886063056378453	0.792
18	67753919	G	A	18	70086683	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.C4304T:p.A1435V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.C4304T:p.A1435V;ENSG00000176225:ENST00000255674:exon32:c.C4304T:p.A1435V;	0.964988688415973	0.852
18	67753919	G	C	18	70086683	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.C4304G:p.A1435G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.C4304G:p.A1435G;ENSG00000176225:ENST00000255674:exon32:c.C4304G:p.A1435G;	0.964037402610929	0.788
18	67753919	G	T	18	70086683	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.C4304A:p.A1435E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.C4304A:p.A1435E;ENSG00000176225:ENST00000255674:exon32:c.C4304A:p.A1435E;	0.983109028554636	0.842
18	67753920	C	A	18	70086684	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.G4303T:p.A1435S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.G4303T:p.A1435S;ENSG00000176225:ENST00000255674:exon32:c.G4303T:p.A1435S;	0.999326076787834	0.952
18	67753920	C	G	18	70086684	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.G4303C:p.A1435P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.G4303C:p.A1435P;ENSG00000176225:ENST00000255674:exon32:c.G4303C:p.A1435P;	0.99959013944774	0.894
18	67753920	C	T	18	70086684	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon32:c.G4303A:p.A1435T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon32:c.G4303A:p.A1435T;ENSG00000176225:ENST00000255674:exon32:c.G4303A:p.A1435T;	0.996254188815667	0.846
18	67753921	C	A	18	70086685	y	y	splicing	RTTN(NM_173630:exon33:c.4303-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4303-1G>T;ENST00000583043:exon27:c.3584-1G>T;ENST00000454359:exon32:c.4214-1G>T;ENST00000581161:exon32:c.4120-1G>T;ENST00000437017:exon33:c.4303-1G>T)	.	.	0.999981760802075	0.944
18	67753921	C	G	18	70086685	y	y	splicing	RTTN(NM_173630:exon33:c.4303-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4303-1G>C;ENST00000583043:exon27:c.3584-1G>C;ENST00000454359:exon32:c.4214-1G>C;ENST00000581161:exon32:c.4120-1G>C;ENST00000437017:exon33:c.4303-1G>C)	.	.	0.999981760802075	0.944
18	67753921	C	T	18	70086685	y	y	splicing	RTTN(NM_173630:exon33:c.4303-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4303-1G>A;ENST00000583043:exon27:c.3584-1G>A;ENST00000454359:exon32:c.4214-1G>A;ENST00000581161:exon32:c.4120-1G>A;ENST00000437017:exon33:c.4303-1G>A)	.	.	0.999981760802075	0.944
18	67753922	T	A	18	70086686	y	y	splicing	RTTN(NM_173630:exon33:c.4303-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4303-2A>T;ENST00000583043:exon27:c.3584-2A>T;ENST00000454359:exon32:c.4214-2A>T;ENST00000581161:exon32:c.4120-2A>T;ENST00000437017:exon33:c.4303-2A>T)	.	.	0.999989917668626	0.926
18	67753922	T	C	18	70086686	y	y	splicing	RTTN(NM_173630:exon33:c.4303-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4303-2A>G;ENST00000583043:exon27:c.3584-2A>G;ENST00000454359:exon32:c.4214-2A>G;ENST00000581161:exon32:c.4120-2A>G;ENST00000437017:exon33:c.4303-2A>G)	.	.	0.999989917668626	0.926
18	67753922	T	G	18	70086686	y	y	splicing	RTTN(NM_173630:exon33:c.4303-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon33:c.4303-2A>C;ENST00000583043:exon27:c.3584-2A>C;ENST00000454359:exon32:c.4214-2A>C;ENST00000581161:exon32:c.4120-2A>C;ENST00000437017:exon33:c.4303-2A>C)	.	.	0.999989917668626	0.926
18	67753923	G	A	18	70086687	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.13042356347112E-4	0.102
18	67753923	G	C	18	70086687	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.990103533933263	0.88
18	67753923	G	T	18	70086687	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.112644919952603	0.348
18	67753924	A	C	18	70086688	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.19261963962976E-4	0.0
18	67753924	A	G	18	70086688	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.01392621130309E-4	0.0
18	67753924	A	T	18	70086688	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.56990630292222E-4	0.0
18	67753925	A	C	18	70086689	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.225738386228638	0.352
18	67753925	A	G	18	70086689	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.09285513719181E-4	0.002
18	67753925	A	T	18	70086689	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.13958266439174	0.332
18	67753926	A	C	18	70086690	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.593731274936168	0.518
18	67753926	A	G	18	70086690	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.3653541415416E-4	0.036
18	67753926	A	T	18	70086690	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.678672972777147	0.514
18	67753927	A	C	18	70086691	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996283602698322	0.992
18	67753927	A	G	18	70086691	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.22122000180796E-6	0.024
18	67753927	A	T	18	70086691	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00132668607274838	0.26
18	67753928	T	A	18	70086692	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.56019381450717E-5	0.03
18	67753928	T	C	18	70086692	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.2050937513442E-5	0.0
18	67753928	T	G	18	70086692	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.18585894303552E-5	0.0
18	67753929	G	A	18	70086693	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.77782065982879E-5	0.0
18	67753929	G	C	18	70086693	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.752778475137547	0.858
18	67753929	G	T	18	70086693	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.83428206616247E-5	0.01
18	67753930	T	A	18	70086694	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.46235981139284E-6	0.0
18	67753930	T	C	18	70086694	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.37939252189071E-5	0.002
18	67753930	T	G	18	70086694	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.03818953992342E-6	0.0
18	67753931	A	C	18	70086695	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0379272557248958	0.318
18	67753931	A	G	18	70086695	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.04351117721799E-4	0.036
18	67753931	A	T	18	70086695	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0459232626563438	0.35
18	67753932	A	C	18	70086696	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00175352985680261	0.142
18	67753932	A	G	18	70086696	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.79624719953211E-5	0.0
18	67753932	A	T	18	70086696	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00145541689208698	0.138
18	67755217	A	C	18	70087981	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00127093788861725	0.036
18	67755217	A	G	18	70087981	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00333367604745612	0.03
18	67755217	A	T	18	70087981	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00301635877215327	0.04
18	67755218	G	A	18	70087982	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.80456177342276E-5	0.0
18	67755218	G	C	18	70087982	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.17046524523939E-5	0.0
18	67755218	G	T	18	70087982	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.74492434434369E-4	0.0
18	67755219	A	C	18	70087983	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0133154704269501	0.2
18	67755219	A	G	18	70087983	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0594870844013788	0.344
18	67755219	A	T	18	70087983	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0161868018683024	0.262
18	67755220	C	A	18	70087984	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997815329696151	0.664
18	67755220	C	G	18	70087984	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999300971511386	0.906
18	67755220	C	T	18	70087984	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998439494741209	0.628
18	67755221	A	C	18	70087985	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.13385397283524E-4	0.0
18	67755221	A	G	18	70087985	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.95777785715915E-4	0.012
18	67755221	A	T	18	70087985	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.43153157277888E-4	0.05
18	67755222	T	A	18	70087986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998224127931328	0.812
18	67755222	T	C	18	70087986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.979037324125456	0.776
18	67755222	T	G	18	70087986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998068294444254	0.874
18	67755223	A	C	18	70087987	y	y	splicing	RTTN(NM_173630:exon32:c.4302+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4302+2T>G;ENST00000583043:exon26:c.3583+2T>G;ENST00000454359:exon31:c.4213+2T>G;ENST00000581161:exon31:c.4119+2T>G;ENST00000437017:exon32:c.4302+2T>G)	.	.	0.999988307841649	0.92
18	67755223	A	G	18	70087987	y	y	splicing	RTTN(NM_173630:exon32:c.4302+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4302+2T>C;ENST00000583043:exon26:c.3583+2T>C;ENST00000454359:exon31:c.4213+2T>C;ENST00000581161:exon31:c.4119+2T>C;ENST00000437017:exon32:c.4302+2T>C)	.	.	0.992500699874827	0.63
18	67755223	A	T	18	70087987	y	y	splicing	RTTN(NM_173630:exon32:c.4302+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4302+2T>A;ENST00000583043:exon26:c.3583+2T>A;ENST00000454359:exon31:c.4213+2T>A;ENST00000581161:exon31:c.4119+2T>A;ENST00000437017:exon32:c.4302+2T>A)	.	.	0.999988307841649	0.92
18	67755224	C	A	18	70087988	y	y	splicing	RTTN(NM_173630:exon32:c.4302+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4302+1G>T;ENST00000583043:exon26:c.3583+1G>T;ENST00000454359:exon31:c.4213+1G>T;ENST00000581161:exon31:c.4119+1G>T;ENST00000437017:exon32:c.4302+1G>T)	.	.	0.999990361384395	0.928
18	67755224	C	G	18	70087988	y	y	splicing	RTTN(NM_173630:exon32:c.4302+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4302+1G>C;ENST00000583043:exon26:c.3583+1G>C;ENST00000454359:exon31:c.4213+1G>C;ENST00000581161:exon31:c.4119+1G>C;ENST00000437017:exon32:c.4302+1G>C)	.	.	0.999990361384395	0.928
18	67755224	C	T	18	70087988	y	y	splicing	RTTN(NM_173630:exon32:c.4302+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4302+1G>A;ENST00000583043:exon26:c.3583+1G>A;ENST00000454359:exon31:c.4213+1G>A;ENST00000581161:exon31:c.4119+1G>A;ENST00000437017:exon32:c.4302+1G>A)	.	.	0.999990361384395	0.928
18	67755225	C	A	18	70087989	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.G4302T:p.E1434D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.G4302T:p.E1434D;ENSG00000176225:ENST00000255674:exon31:c.G4302T:p.E1434D;	0.999954490692092	0.974
18	67755225	C	G	18	70087989	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.G4302C:p.E1434D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.G4302C:p.E1434D;ENSG00000176225:ENST00000255674:exon31:c.G4302C:p.E1434D;	0.999991240912755	0.97
18	67755225	C	T	18	70087989	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon31:c.G4302A:p.E1434E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.G4302A:p.E1434E;ENSG00000176225:ENST00000255674:exon31:c.G4302A:p.E1434E;	0.999974281380203	0.99
18	67755226	T	A	18	70087990	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.A4301T:p.E1434V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.A4301T:p.E1434V;ENSG00000176225:ENST00000255674:exon31:c.A4301T:p.E1434V;	0.999803482820931	0.992
18	67755226	T	C	18	70087990	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.A4301G:p.E1434G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.A4301G:p.E1434G;ENSG00000176225:ENST00000255674:exon31:c.A4301G:p.E1434G;	0.999819175777974	0.996
18	67755226	T	G	18	70087990	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.A4301C:p.E1434A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.A4301C:p.E1434A;ENSG00000176225:ENST00000255674:exon31:c.A4301C:p.E1434A;	0.998386188264279	0.95
18	67755227	C	A	18	70087991	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon31:c.G4300T:p.E1434X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon31:c.G4300T:p.E1434X;ENSG00000176225:ENST00000255674:exon31:c.G4300T:p.E1434X;	0.972594821682546	0.782
18	67755227	C	G	18	70087991	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.G4300C:p.E1434Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.G4300C:p.E1434Q;ENSG00000176225:ENST00000255674:exon31:c.G4300C:p.E1434Q;	0.93427039217886	0.71
18	67755227	C	T	18	70087991	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.G4300A:p.E1434K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.G4300A:p.E1434K;ENSG00000176225:ENST00000255674:exon31:c.G4300A:p.E1434K;	0.949883214955945	0.746
18	67755382	A	C	18	70088146	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.T4145G:p.V1382G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.T4145G:p.V1382G;ENSG00000176225:ENST00000255674:exon31:c.T4145G:p.V1382G;	0.927036776970481	0.434
18	67755382	A	G	18	70088146	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.T4145C:p.V1382A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.T4145C:p.V1382A;ENSG00000176225:ENST00000255674:exon31:c.T4145C:p.V1382A;	0.936879185524531	0.446
18	67755382	A	T	18	70088146	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.T4145A:p.V1382E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.T4145A:p.V1382E;ENSG00000176225:ENST00000255674:exon31:c.T4145A:p.V1382E;	0.927036776970481	0.448
18	67755383	C	A	18	70088147	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.G4144T:p.V1382L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.G4144T:p.V1382L;ENSG00000176225:ENST00000255674:exon31:c.G4144T:p.V1382L;	0.999910032085424	0.972
18	67755383	C	G	18	70088147	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.G4144C:p.V1382L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.G4144C:p.V1382L;ENSG00000176225:ENST00000255674:exon31:c.G4144C:p.V1382L;	0.99977221111431	0.952
18	67755383	C	T	18	70088147	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon31:c.G4144A:p.V1382M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon31:c.G4144A:p.V1382M;ENSG00000176225:ENST00000255674:exon31:c.G4144A:p.V1382M;	0.999727888615208	0.908
18	67755384	C	A	18	70088148	y	y	splicing	RTTN(NM_173630:exon32:c.4144-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4144-1G>T;ENST00000583043:exon26:c.3425-1G>T;ENST00000454359:exon31:c.4055-1G>T;ENST00000581161:exon31:c.3961-1G>T;ENST00000437017:exon32:c.4144-1G>T)	.	.	0.999990361384395	0.942
18	67755384	C	G	18	70088148	y	y	splicing	RTTN(NM_173630:exon32:c.4144-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4144-1G>C;ENST00000583043:exon26:c.3425-1G>C;ENST00000454359:exon31:c.4055-1G>C;ENST00000581161:exon31:c.3961-1G>C;ENST00000437017:exon32:c.4144-1G>C)	.	.	0.999990361384395	0.942
18	67755384	C	T	18	70088148	y	y	splicing	RTTN(NM_173630:exon32:c.4144-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4144-1G>A;ENST00000583043:exon26:c.3425-1G>A;ENST00000454359:exon31:c.4055-1G>A;ENST00000581161:exon31:c.3961-1G>A;ENST00000437017:exon32:c.4144-1G>A)	.	.	0.999990361384395	0.942
18	67755385	T	A	18	70088149	y	y	splicing	RTTN(NM_173630:exon32:c.4144-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4144-2A>T;ENST00000583043:exon26:c.3425-2A>T;ENST00000454359:exon31:c.4055-2A>T;ENST00000581161:exon31:c.3961-2A>T;ENST00000437017:exon32:c.4144-2A>T)	.	.	0.999992446697775	0.946
18	67755385	T	C	18	70088149	y	y	splicing	RTTN(NM_173630:exon32:c.4144-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4144-2A>G;ENST00000583043:exon26:c.3425-2A>G;ENST00000454359:exon31:c.4055-2A>G;ENST00000581161:exon31:c.3961-2A>G;ENST00000437017:exon32:c.4144-2A>G)	.	.	0.999992446697775	0.946
18	67755385	T	G	18	70088149	y	y	splicing	RTTN(NM_173630:exon32:c.4144-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon32:c.4144-2A>C;ENST00000583043:exon26:c.3425-2A>C;ENST00000454359:exon31:c.4055-2A>C;ENST00000581161:exon31:c.3961-2A>C;ENST00000437017:exon32:c.4144-2A>C)	.	.	0.999992446697775	0.946
18	67755386	G	A	18	70088150	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0806260201702708	0.154
18	67755386	G	C	18	70088150	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999695099086782	0.826
18	67755386	G	T	18	70088150	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.994028419446435	0.862
18	67755387	T	A	18	70088151	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.83409385857939E-4	0.026
18	67755387	T	C	18	70088151	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.994034368866804	0.686
18	67755387	T	G	18	70088151	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.4535048687196E-5	0.016
18	67755388	T	A	18	70088152	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.04885260206988E-5	0.026
18	67755388	T	C	18	70088152	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.32052703624375E-4	0.032
18	67755388	T	G	18	70088152	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.25212222085774E-5	0.004
18	67755389	C	A	18	70088153	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.03268102229582E-4	0.012
18	67755389	C	G	18	70088153	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.60366585991103E-4	0.004
18	67755389	C	T	18	70088153	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.60476623421524E-4	0.0
18	67755390	A	C	18	70088154	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.307144924024473	0.494
18	67755390	A	G	18	70088154	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.64192705741679E-4	0.05
18	67755390	A	T	18	70088154	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999736575984114	0.984
18	67755391	A	C	18	70088155	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00297363129505248	0.176
18	67755391	A	G	18	70088155	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.50287915363396E-5	0.018
18	67755391	A	T	18	70088155	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00602751449978146	0.198
18	67755392	A	C	18	70088156	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999929143436795	0.908
18	67755392	A	G	18	70088156	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.2806629886135E-4	0.118
18	67755392	A	T	18	70088156	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.317088373016218	0.446
18	67755393	T	A	18	70088157	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.50312165754778E-5	0.044
18	67755393	T	C	18	70088157	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998164256239799	0.886
18	67755393	T	G	18	70088157	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.80210581898395E-5	0.016
18	67755394	T	A	18	70088158	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.20928082533388E-5	0.104
18	67755394	T	C	18	70088158	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.75521019528781E-4	0.06
18	67755394	T	G	18	70088158	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.500505844589E-5	0.042
18	67755395	A	C	18	70088159	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.74194966766698	0.49
18	67755395	A	G	18	70088159	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.68742105017284E-5	0.094
18	67755395	A	T	18	70088159	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.983795695764696	0.638
18	67759338	A	C	18	70092102	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.92360839913203E-4	0.0
18	67759338	A	G	18	70092102	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.08500193743385E-4	0.006
18	67759338	A	T	18	70092102	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.57132164593351E-4	0.0
18	67759339	C	A	18	70092103	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.51633620491436E-5	0.004
18	67759339	C	G	18	70092103	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.89745801126006E-5	0.002
18	67759339	C	T	18	70092103	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.49527878859582E-4	0.004
18	67759340	A	C	18	70092104	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.261067956062335	0.364
18	67759340	A	G	18	70092104	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.247492446247318	0.416
18	67759340	A	T	18	70092104	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.766035036745891	0.634
18	67759341	C	A	18	70092105	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.995390751256694	0.878
18	67759341	C	G	18	70092105	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.98805886329608	0.886
18	67759341	C	T	18	70092105	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.98951558017841	0.886
18	67759342	T	A	18	70092106	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.917326862996013	0.49
18	67759342	T	C	18	70092106	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.945815444782526	0.582
18	67759342	T	G	18	70092106	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.615161996428704	0.374
18	67759343	C	A	18	70092107	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0108723117195251	0.176
18	67759343	C	G	18	70092107	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00401761723926645	0.124
18	67759343	C	T	18	70092107	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.65538597462002E-5	0.0
18	67759344	A	C	18	70092108	y	y	splicing	RTTN(NM_173630:exon31:c.4143+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4143+2T>G;ENST00000583043:exon25:c.3424+2T>G;ENST00000454359:exon30:c.4054+2T>G;ENST00000581161:exon30:c.3960+2T>G;ENST00000437017:exon31:c.4143+2T>G)	.	.	0.999993519952936	0.93
18	67759344	A	G	18	70092108	y	y	splicing	RTTN(NM_173630:exon31:c.4143+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4143+2T>C;ENST00000583043:exon25:c.3424+2T>C;ENST00000454359:exon30:c.4054+2T>C;ENST00000581161:exon30:c.3960+2T>C;ENST00000437017:exon31:c.4143+2T>C)	.	.	0.999942994125946	0.854
18	67759344	A	T	18	70092108	y	y	splicing	RTTN(NM_173630:exon31:c.4143+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4143+2T>A;ENST00000583043:exon25:c.3424+2T>A;ENST00000454359:exon30:c.4054+2T>A;ENST00000581161:exon30:c.3960+2T>A;ENST00000437017:exon31:c.4143+2T>A)	.	.	0.999993519952936	0.93
18	67759345	C	A	18	70092109	y	y	splicing	RTTN(NM_173630:exon31:c.4143+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4143+1G>T;ENST00000583043:exon25:c.3424+1G>T;ENST00000454359:exon30:c.4054+1G>T;ENST00000581161:exon30:c.3960+1G>T;ENST00000437017:exon31:c.4143+1G>T)	.	.	0.999988247793601	0.936
18	67759345	C	G	18	70092109	y	y	splicing	RTTN(NM_173630:exon31:c.4143+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4143+1G>C;ENST00000583043:exon25:c.3424+1G>C;ENST00000454359:exon30:c.4054+1G>C;ENST00000581161:exon30:c.3960+1G>C;ENST00000437017:exon31:c.4143+1G>C)	.	.	0.999988247793601	0.936
18	67759345	C	T	18	70092109	y	y	splicing	RTTN(NM_173630:exon31:c.4143+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4143+1G>A;ENST00000583043:exon25:c.3424+1G>A;ENST00000454359:exon30:c.4054+1G>A;ENST00000581161:exon30:c.3960+1G>A;ENST00000437017:exon31:c.4143+1G>A)	.	.	0.999988247793601	0.936
18	67759346	C	A	18	70092110	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.G4143T:p.E1381D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.G4143T:p.E1381D;ENSG00000176225:ENST00000255674:exon30:c.G4143T:p.E1381D;	0.985387094326648	0.934
18	67759346	C	G	18	70092110	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.G4143C:p.E1381D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.G4143C:p.E1381D;ENSG00000176225:ENST00000255674:exon30:c.G4143C:p.E1381D;	0.989148095194124	0.878
18	67759346	C	T	18	70092110	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon30:c.G4143A:p.E1381E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.G4143A:p.E1381E;ENSG00000176225:ENST00000255674:exon30:c.G4143A:p.E1381E;	0.827535300643181	0.64
18	67759347	T	A	18	70092111	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.A4142T:p.E1381V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.A4142T:p.E1381V;ENSG00000176225:ENST00000255674:exon30:c.A4142T:p.E1381V;	0.989841638542222	0.758
18	67759347	T	C	18	70092111	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.A4142G:p.E1381G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.A4142G:p.E1381G;ENSG00000176225:ENST00000255674:exon30:c.A4142G:p.E1381G;	0.992667560364761	0.894
18	67759347	T	G	18	70092111	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.A4142C:p.E1381A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.A4142C:p.E1381A;ENSG00000176225:ENST00000255674:exon30:c.A4142C:p.E1381A;	0.987992602369096	0.81
18	67759348	C	A	18	70092112	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon30:c.G4141T:p.E1381X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon30:c.G4141T:p.E1381X;ENSG00000176225:ENST00000255674:exon30:c.G4141T:p.E1381X;	0.975380214471657	0.854
18	67759348	C	G	18	70092112	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.G4141C:p.E1381Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.G4141C:p.E1381Q;ENSG00000176225:ENST00000255674:exon30:c.G4141C:p.E1381Q;	0.92338872348748	0.738
18	67759348	C	T	18	70092112	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.G4141A:p.E1381K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.G4141A:p.E1381K;ENSG00000176225:ENST00000255674:exon30:c.G4141A:p.E1381K;	0.944509186703109	0.826
18	67759455	T	A	18	70092219	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.A4034T:p.E1345V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.A4034T:p.E1345V;ENSG00000176225:ENST00000255674:exon30:c.A4034T:p.E1345V;	0.0171738839111185	0.144
18	67759455	T	C	18	70092219	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.A4034G:p.E1345G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.A4034G:p.E1345G;ENSG00000176225:ENST00000255674:exon30:c.A4034G:p.E1345G;	0.00120800294040657	0.09
18	67759455	T	G	18	70092219	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.A4034C:p.E1345A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.A4034C:p.E1345A;ENSG00000176225:ENST00000255674:exon30:c.A4034C:p.E1345A;	0.0076793527825553	0.048
18	67759456	C	A	18	70092220	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon30:c.G4033T:p.E1345X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon30:c.G4033T:p.E1345X;ENSG00000176225:ENST00000255674:exon30:c.G4033T:p.E1345X;	0.999236075013262	0.864
18	67759456	C	G	18	70092220	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.G4033C:p.E1345Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.G4033C:p.E1345Q;ENSG00000176225:ENST00000255674:exon30:c.G4033C:p.E1345Q;	0.999297305049778	0.902
18	67759456	C	T	18	70092220	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon30:c.G4033A:p.E1345K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon30:c.G4033A:p.E1345K;ENSG00000176225:ENST00000255674:exon30:c.G4033A:p.E1345K;	0.997560935993557	0.884
18	67759457	C	A	18	70092221	y	y	splicing	RTTN(NM_173630:exon31:c.4033-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4033-1G>T;ENST00000583043:exon25:c.3314-1G>T;ENST00000454359:exon30:c.3944-1G>T;ENST00000581161:exon30:c.3850-1G>T;ENST00000437017:exon31:c.4033-1G>T)	.	.	0.999986675681007	0.932
18	67759457	C	G	18	70092221	y	y	splicing	RTTN(NM_173630:exon31:c.4033-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4033-1G>C;ENST00000583043:exon25:c.3314-1G>C;ENST00000454359:exon30:c.3944-1G>C;ENST00000581161:exon30:c.3850-1G>C;ENST00000437017:exon31:c.4033-1G>C)	.	.	0.999986675681007	0.884
18	67759457	C	T	18	70092221	y	y	splicing	RTTN(NM_173630:exon31:c.4033-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4033-1G>A;ENST00000583043:exon25:c.3314-1G>A;ENST00000454359:exon30:c.3944-1G>A;ENST00000581161:exon30:c.3850-1G>A;ENST00000437017:exon31:c.4033-1G>A)	.	.	0.999986675681007	0.932
18	67759458	T	A	18	70092222	y	y	splicing	RTTN(NM_173630:exon31:c.4033-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4033-2A>T;ENST00000583043:exon25:c.3314-2A>T;ENST00000454359:exon30:c.3944-2A>T;ENST00000581161:exon30:c.3850-2A>T;ENST00000437017:exon31:c.4033-2A>T)	.	.	0.999986903042585	0.928
18	67759458	T	C	18	70092222	y	y	splicing	RTTN(NM_173630:exon31:c.4033-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4033-2A>G;ENST00000583043:exon25:c.3314-2A>G;ENST00000454359:exon30:c.3944-2A>G;ENST00000581161:exon30:c.3850-2A>G;ENST00000437017:exon31:c.4033-2A>G)	.	.	0.999966203349492	0.926
18	67759458	T	G	18	70092222	y	y	splicing	RTTN(NM_173630:exon31:c.4033-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon31:c.4033-2A>C;ENST00000583043:exon25:c.3314-2A>C;ENST00000454359:exon30:c.3944-2A>C;ENST00000581161:exon30:c.3850-2A>C;ENST00000437017:exon31:c.4033-2A>C)	.	.	0.999966203349492	0.926
18	67759459	A	C	18	70092223	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.354809191312702	0.468
18	67759459	A	G	18	70092223	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.22763340816444E-5	0.014
18	67759459	A	T	18	70092223	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00285766681229421	0.114
18	67759460	G	A	18	70092224	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.44466940211198E-5	0.0
18	67759460	G	C	18	70092224	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.17309334439558E-4	0.002
18	67759460	G	T	18	70092224	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.97269406856554E-5	0.002
18	67759461	A	C	18	70092225	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.27061940228481E-5	0.136
18	67759461	A	G	18	70092225	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.18627006742901E-5	0.034
18	67759461	A	T	18	70092225	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.01719967462408E-4	0.128
18	67759462	G	A	18	70092226	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.60966222503036E-5	0.0
18	67759462	G	C	18	70092226	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.81957098891865E-4	0.064
18	67759462	G	T	18	70092226	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.15543426391328E-5	0.01
18	67759463	G	A	18	70092227	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.40747511851349E-5	0.0
18	67759463	G	C	18	70092227	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.24020722473534E-4	0.0
18	67759463	G	T	18	70092227	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.24020722473534E-4	0.02
18	67759464	G	A	18	70092228	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.95343424288457E-5	0.0
18	67759464	G	C	18	70092228	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.60039176346892E-4	0.028
18	67759464	G	T	18	70092228	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.28775773342145E-5	0.02
18	67759465	A	C	18	70092229	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.33871406322745E-4	0.066
18	67759465	A	G	18	70092229	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.12571603811851E-4	0.058
18	67759465	A	T	18	70092229	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.03122153570856E-4	0.106
18	67759466	A	C	18	70092230	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.00912670501835E-4	0.102
18	67759466	A	G	18	70092230	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.87708809748002E-5	0.006
18	67759466	A	T	18	70092230	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.97831511947259E-4	0.078
18	67759467	A	C	18	70092231	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.09169360851973E-4	0.082
18	67759467	A	G	18	70092231	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.28545766262763E-4	0.008
18	67759467	A	T	18	70092231	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.33459327136036E-4	0.114
18	67759468	A	C	18	70092232	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.10228391030461E-5	0.024
18	67759468	A	G	18	70092232	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.60125042270692E-5	0.002
18	67759468	A	T	18	70092232	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.5291858066212E-5	0.05
18	67759904	G	A	18	70092668	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.08631739554919E-4	0.026
18	67759904	G	C	18	70092668	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.81591075024974E-4	0.0
18	67759904	G	T	18	70092668	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.50516590657346E-4	0.008
18	67759905	C	A	18	70092669	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.8611354227551E-4	0.04
18	67759905	C	G	18	70092669	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.20323973937152E-4	0.0
18	67759905	C	T	18	70092669	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.13879224812485E-5	0.0
18	67759906	G	A	18	70092670	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.67944982512943E-5	0.0
18	67759906	G	C	18	70092670	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.5296247883036E-5	0.064
18	67759906	G	T	18	70092670	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.4325552599916E-4	0.01
18	67759907	C	A	18	70092671	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999957731265057	0.952
18	67759907	C	G	18	70092671	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999986221520479	0.94
18	67759907	C	T	18	70092671	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999961566945606	0.958
18	67759908	T	A	18	70092672	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.993686243197402	0.87
18	67759908	T	C	18	70092672	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.956014038306064	0.778
18	67759908	T	G	18	70092672	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.924434262679602	0.756
18	67759909	C	A	18	70092673	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.947909912256747	0.572
18	67759909	C	G	18	70092673	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.797489988598594	0.608
18	67759909	C	T	18	70092673	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.11417324038507E-6	0.0
18	67759910	A	C	18	70092674	y	y	splicing	RTTN(NM_173630:exon30:c.4032+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.4032+2T>G;ENST00000583043:exon24:c.3313+2T>G;ENST00000454359:exon29:c.3943+2T>G;ENST00000581161:exon29:c.3849+2T>G;ENST00000437017:exon30:c.4032+2T>G)	.	.	0.999972155025474	0.84
18	67759910	A	G	18	70092674	y	y	splicing	RTTN(NM_173630:exon30:c.4032+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.4032+2T>C;ENST00000583043:exon24:c.3313+2T>C;ENST00000454359:exon29:c.3943+2T>C;ENST00000581161:exon29:c.3849+2T>C;ENST00000437017:exon30:c.4032+2T>C)	.	.	0.999946207367297	0.856
18	67759910	A	T	18	70092674	y	y	splicing	RTTN(NM_173630:exon30:c.4032+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.4032+2T>A;ENST00000583043:exon24:c.3313+2T>A;ENST00000454359:exon29:c.3943+2T>A;ENST00000581161:exon29:c.3849+2T>A;ENST00000437017:exon30:c.4032+2T>A)	.	.	0.999982151912279	0.888
18	67759911	C	A	18	70092675	y	y	splicing	RTTN(NM_173630:exon30:c.4032+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.4032+1G>T;ENST00000583043:exon24:c.3313+1G>T;ENST00000454359:exon29:c.3943+1G>T;ENST00000581161:exon29:c.3849+1G>T;ENST00000437017:exon30:c.4032+1G>T)	.	.	0.99996748057446	0.91
18	67759911	C	G	18	70092675	y	y	splicing	RTTN(NM_173630:exon30:c.4032+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.4032+1G>C;ENST00000583043:exon24:c.3313+1G>C;ENST00000454359:exon29:c.3943+1G>C;ENST00000581161:exon29:c.3849+1G>C;ENST00000437017:exon30:c.4032+1G>C)	.	.	0.99996748057446	0.908
18	67759911	C	T	18	70092675	y	y	splicing	RTTN(NM_173630:exon30:c.4032+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.4032+1G>A;ENST00000583043:exon24:c.3313+1G>A;ENST00000454359:exon29:c.3943+1G>A;ENST00000581161:exon29:c.3849+1G>A;ENST00000437017:exon30:c.4032+1G>A)	.	.	0.99996748057446	0.91
18	67759912	C	A	18	70092676	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.G4032T:p.L1344F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.G4032T:p.L1344F;ENSG00000176225:ENST00000255674:exon29:c.G4032T:p.L1344F;	0.999930051390697	0.932
18	67759912	C	G	18	70092676	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.G4032C:p.L1344F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.G4032C:p.L1344F;ENSG00000176225:ENST00000255674:exon29:c.G4032C:p.L1344F;	0.999956612821813	0.962
18	67759912	C	T	18	70092676	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon29:c.G4032A:p.L1344L;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.G4032A:p.L1344L;ENSG00000176225:ENST00000255674:exon29:c.G4032A:p.L1344L;	0.999972240076837	0.998
18	67759913	A	C	18	70092677	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.T4031G:p.L1344W;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.T4031G:p.L1344W;ENSG00000176225:ENST00000255674:exon29:c.T4031G:p.L1344W;	0.00193550065729418	0.102
18	67759913	A	G	18	70092677	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.T4031C:p.L1344S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.T4031C:p.L1344S;ENSG00000176225:ENST00000255674:exon29:c.T4031C:p.L1344S;	7.75193913211552E-6	0.006
18	67759913	A	T	18	70092677	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon29:c.T4031A:p.L1344X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon29:c.T4031A:p.L1344X;ENSG00000176225:ENST00000255674:exon29:c.T4031A:p.L1344X;	3.52313180454456E-4	0.362
18	67759914	A	C	18	70092678	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.T4030G:p.L1344V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.T4030G:p.L1344V;ENSG00000176225:ENST00000255674:exon29:c.T4030G:p.L1344V;	0.00147350988343435	0.054
18	67759914	A	G	18	70092678	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon29:c.T4030C:p.L1344L;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.T4030C:p.L1344L;ENSG00000176225:ENST00000255674:exon29:c.T4030C:p.L1344L;	4.58765626947271E-4	0.016
18	67759914	A	T	18	70092678	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.T4030A:p.L1344M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.T4030A:p.L1344M;ENSG00000176225:ENST00000255674:exon29:c.T4030A:p.L1344M;	0.00225158791969988	0.012
18	67760039	A	C	18	70092803	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.T3905G:p.V1302G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.T3905G:p.V1302G;ENSG00000176225:ENST00000255674:exon29:c.T3905G:p.V1302G;	0.0978625081451565	0.356
18	67760039	A	G	18	70092803	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.T3905C:p.V1302A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.T3905C:p.V1302A;ENSG00000176225:ENST00000255674:exon29:c.T3905C:p.V1302A;	0.262398809320018	0.382
18	67760039	A	T	18	70092803	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.T3905A:p.V1302D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.T3905A:p.V1302D;ENSG00000176225:ENST00000255674:exon29:c.T3905A:p.V1302D;	0.139241927916468	0.334
18	67760040	C	A	18	70092804	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.G3904T:p.V1302F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.G3904T:p.V1302F;ENSG00000176225:ENST00000255674:exon29:c.G3904T:p.V1302F;	0.903254004147149	0.688
18	67760040	C	G	18	70092804	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.G3904C:p.V1302L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.G3904C:p.V1302L;ENSG00000176225:ENST00000255674:exon29:c.G3904C:p.V1302L;	0.944707378921095	0.642
18	67760040	C	T	18	70092804	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon29:c.G3904A:p.V1302I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon29:c.G3904A:p.V1302I;ENSG00000176225:ENST00000255674:exon29:c.G3904A:p.V1302I;	0.0293431326447414	0.296
18	67760041	C	A	18	70092805	y	y	splicing	RTTN(NM_173630:exon30:c.3904-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.3904-1G>T;ENST00000583043:exon24:c.3185-1G>T;ENST00000454359:exon29:c.3815-1G>T;ENST00000581161:exon29:c.3721-1G>T;ENST00000437017:exon30:c.3904-1G>T)	.	.	0.999913048446842	0.776
18	67760041	C	G	18	70092805	y	y	splicing	RTTN(NM_173630:exon30:c.3904-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.3904-1G>C;ENST00000583043:exon24:c.3185-1G>C;ENST00000454359:exon29:c.3815-1G>C;ENST00000581161:exon29:c.3721-1G>C;ENST00000437017:exon30:c.3904-1G>C)	.	.	0.999953650796488	0.756
18	67760041	C	T	18	70092805	y	y	splicing	RTTN(NM_173630:exon30:c.3904-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.3904-1G>A;ENST00000583043:exon24:c.3185-1G>A;ENST00000454359:exon29:c.3815-1G>A;ENST00000581161:exon29:c.3721-1G>A;ENST00000437017:exon30:c.3904-1G>A)	.	.	0.999913048446842	0.784
18	67760042	T	A	18	70092806	y	y	splicing	RTTN(NM_173630:exon30:c.3904-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.3904-2A>T;ENST00000583043:exon24:c.3185-2A>T;ENST00000454359:exon29:c.3815-2A>T;ENST00000581161:exon29:c.3721-2A>T;ENST00000437017:exon30:c.3904-2A>T)	.	.	0.999971317418422	0.888
18	67760042	T	C	18	70092806	y	y	splicing	RTTN(NM_173630:exon30:c.3904-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.3904-2A>G;ENST00000583043:exon24:c.3185-2A>G;ENST00000454359:exon29:c.3815-2A>G;ENST00000581161:exon29:c.3721-2A>G;ENST00000437017:exon30:c.3904-2A>G)	.	.	0.999972155025474	0.834
18	67760042	T	G	18	70092806	y	y	splicing	RTTN(NM_173630:exon30:c.3904-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon30:c.3904-2A>C;ENST00000583043:exon24:c.3185-2A>C;ENST00000454359:exon29:c.3815-2A>C;ENST00000581161:exon29:c.3721-2A>C;ENST00000437017:exon30:c.3904-2A>C)	.	.	0.999972871252391	0.86
18	67760043	G	A	18	70092807	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.73295024590029E-4	0.01
18	67760043	G	C	18	70092807	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999313278545925	0.886
18	67760043	G	T	18	70092807	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.460176539863854	0.492
18	67760044	A	C	18	70092808	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.22018688084637E-4	0.008
18	67760044	A	G	18	70092808	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.87547861129932E-5	0.02
18	67760044	A	T	18	70092808	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.45411592428789E-4	0.004
18	67760045	A	C	18	70092809	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.541190630382954	0.502
18	67760045	A	G	18	70092809	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00142588610906378	0.03
18	67760045	A	T	18	70092809	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.596487347271394	0.498
18	67760046	A	C	18	70092810	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0610016389786709	0.246
18	67760046	A	G	18	70092810	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.47284862847165E-5	0.008
18	67760046	A	T	18	70092810	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.036937949304869	0.216
18	67760047	A	C	18	70092811	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.96229059437146E-4	0.156
18	67760047	A	G	18	70092811	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.18977701578787E-5	0.006
18	67760047	A	T	18	70092811	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.49519932526378E-4	0.162
18	67760048	A	C	18	70092812	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.44738792610612E-4	0.178
18	67760048	A	G	18	70092812	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.17289734388309E-5	0.002
18	67760048	A	T	18	70092812	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.11010649903428E-4	0.206
18	67760049	C	A	18	70092813	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.10518216817077E-4	0.0
18	67760049	C	G	18	70092813	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.27594785724625E-4	0.006
18	67760049	C	T	18	70092813	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00136988354882463	0.042
18	67760050	A	C	18	70092814	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0301486435118146	0.23
18	67760050	A	G	18	70092814	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.54098428550621E-4	0.002
18	67760050	A	T	18	70092814	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999793362231668	0.984
18	67760051	A	C	18	70092815	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.513489157142017	0.534
18	67760051	A	G	18	70092815	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0134756463156965	0.136
18	67760051	A	T	18	70092815	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.634471278739488	0.532
18	67760052	A	C	18	70092816	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.931165044374851	0.842
18	67760052	A	G	18	70092816	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.99545968572874E-5	0.0
18	67760052	A	T	18	70092816	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00313451195011874	0.106
18	67776726	T	A	18	70109490	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.96653435898131E-5	0.0
18	67776726	T	C	18	70109490	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.96653435898131E-5	0.0
18	67776726	T	G	18	70109490	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.96653435898131E-5	0.0
18	67776727	T	A	18	70109491	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.69439264402225E-5	0.0
18	67776727	T	C	18	70109491	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.52297880296295E-5	0.0
18	67776727	T	G	18	70109491	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.15941453541388E-5	0.0
18	67776728	A	C	18	70109492	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00720372237127974	0.228
18	67776728	A	G	18	70109492	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0589636631838456	0.32
18	67776728	A	T	18	70109492	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0738653339729034	0.326
18	67776729	C	A	18	70109493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.326504999435644	0.452
18	67776729	C	G	18	70109493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.545914507461892	0.444
18	67776729	C	T	18	70109493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.449324481942468	0.432
18	67776730	T	A	18	70109494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0668309663990817	0.25
18	67776730	T	C	18	70109494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0582517241871018	0.258
18	67776730	T	G	18	70109494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0526252745557325	0.288
18	67776731	T	A	18	70109495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.419798857194629	0.502
18	67776731	T	C	18	70109495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.8478378512151E-4	0.038
18	67776731	T	G	18	70109495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.398812705505713	0.518
18	67776732	A	C	18	70109496	y	y	splicing	RTTN(NM_173630:exon29:c.3903+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3903+2T>G;ENST00000583043:exon23:c.3184+2T>G;ENST00000454359:exon28:c.3814+2T>G;ENST00000581161:exon28:c.3720+2T>G;ENST00000437017:exon29:c.3903+2T>G)	.	.	0.999978156327223	0.936
18	67776732	A	G	18	70109496	y	y	splicing	RTTN(NM_173630:exon29:c.3903+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3903+2T>C;ENST00000583043:exon23:c.3184+2T>C;ENST00000454359:exon28:c.3814+2T>C;ENST00000581161:exon28:c.3720+2T>C;ENST00000437017:exon29:c.3903+2T>C)	.	.	0.976637172817888	0.592
18	67776732	A	T	18	70109496	y	y	splicing	RTTN(NM_173630:exon29:c.3903+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3903+2T>A;ENST00000583043:exon23:c.3184+2T>A;ENST00000454359:exon28:c.3814+2T>A;ENST00000581161:exon28:c.3720+2T>A;ENST00000437017:exon29:c.3903+2T>A)	.	.	0.999966514958823	0.93
18	67776733	C	A	18	70109497	y	y	splicing	RTTN(NM_173630:exon29:c.3903+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3903+1G>T;ENST00000583043:exon23:c.3184+1G>T;ENST00000454359:exon28:c.3814+1G>T;ENST00000581161:exon28:c.3720+1G>T;ENST00000437017:exon29:c.3903+1G>T)	.	.	0.999938990645747	0.944
18	67776733	C	G	18	70109497	y	y	splicing	RTTN(NM_173630:exon29:c.3903+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3903+1G>C;ENST00000583043:exon23:c.3184+1G>C;ENST00000454359:exon28:c.3814+1G>C;ENST00000581161:exon28:c.3720+1G>C;ENST00000437017:exon29:c.3903+1G>C)	.	.	0.999938990645747	0.944
18	67776733	C	T	18	70109497	y	y	splicing	RTTN(NM_173630:exon29:c.3903+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3903+1G>A;ENST00000583043:exon23:c.3184+1G>A;ENST00000454359:exon28:c.3814+1G>A;ENST00000581161:exon28:c.3720+1G>A;ENST00000437017:exon29:c.3903+1G>A)	.	.	0.999938990645747	0.95
18	67776734	C	A	18	70109498	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.G3903T:p.E1301D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.G3903T:p.E1301D;ENSG00000176225:ENST00000255674:exon28:c.G3903T:p.E1301D;	0.829131478167935	0.53
18	67776734	C	G	18	70109498	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.G3903C:p.E1301D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.G3903C:p.E1301D;ENSG00000176225:ENST00000255674:exon28:c.G3903C:p.E1301D;	0.739316120063235	0.594
18	67776734	C	T	18	70109498	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon28:c.G3903A:p.E1301E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.G3903A:p.E1301E;ENSG00000176225:ENST00000255674:exon28:c.G3903A:p.E1301E;	0.196819729041873	0.434
18	67776735	T	A	18	70109499	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.A3902T:p.E1301V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.A3902T:p.E1301V;ENSG00000176225:ENST00000255674:exon28:c.A3902T:p.E1301V;	0.994006635307759	0.608
18	67776735	T	C	18	70109499	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.A3902G:p.E1301G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.A3902G:p.E1301G;ENSG00000176225:ENST00000255674:exon28:c.A3902G:p.E1301G;	0.994360348681401	0.882
18	67776735	T	G	18	70109499	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.A3902C:p.E1301A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.A3902C:p.E1301A;ENSG00000176225:ENST00000255674:exon28:c.A3902C:p.E1301A;	0.988041674843968	0.734
18	67776736	C	A	18	70109500	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon28:c.G3901T:p.E1301X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon28:c.G3901T:p.E1301X;ENSG00000176225:ENST00000255674:exon28:c.G3901T:p.E1301X;	0.93951433068043	0.832
18	67776736	C	G	18	70109500	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.G3901C:p.E1301Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.G3901C:p.E1301Q;ENSG00000176225:ENST00000255674:exon28:c.G3901C:p.E1301Q;	0.455396855347066	0.6
18	67776736	C	T	18	70109500	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.G3901A:p.E1301K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.G3901A:p.E1301K;ENSG00000176225:ENST00000255674:exon28:c.G3901A:p.E1301K;	0.796533257550305	0.784
18	67776952	T	A	18	70109716	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon28:c.A3685T:p.K1229X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon28:c.A3685T:p.K1229X;ENSG00000176225:ENST00000255674:exon28:c.A3685T:p.K1229X;	0.714816658634455	0.768
18	67776952	T	C	18	70109716	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.A3685G:p.K1229E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.A3685G:p.K1229E;ENSG00000176225:ENST00000255674:exon28:c.A3685G:p.K1229E;	0.00518866171571019	0.044
18	67776952	T	G	18	70109716	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.A3685C:p.K1229Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.A3685C:p.K1229Q;ENSG00000176225:ENST00000255674:exon28:c.A3685C:p.K1229Q;	0.215275622795886	0.482
18	67776953	C	A	18	70109717	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.G3684T:p.R1228S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.G3684T:p.R1228S;ENSG00000176225:ENST00000255674:exon28:c.G3684T:p.R1228S;	0.999500652063165	0.892
18	67776953	C	G	18	70109717	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon28:c.G3684C:p.R1228S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.G3684C:p.R1228S;ENSG00000176225:ENST00000255674:exon28:c.G3684C:p.R1228S;	0.974500317415976	0.81
18	67776953	C	T	18	70109717	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon28:c.G3684A:p.R1228R;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon28:c.G3684A:p.R1228R;ENSG00000176225:ENST00000255674:exon28:c.G3684A:p.R1228R;	0.0350109475170388	0.328
18	67776954	C	A	18	70109718	y	y	splicing	RTTN(NM_173630:exon29:c.3684-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3684-1G>T;ENST00000583043:exon23:c.2965-1G>T;ENST00000454359:exon28:c.3595-1G>T;ENST00000581161:exon28:c.3501-1G>T;ENST00000437017:exon29:c.3684-1G>T)	.	.	0.999938422912956	0.942
18	67776954	C	G	18	70109718	y	y	splicing	RTTN(NM_173630:exon29:c.3684-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3684-1G>C;ENST00000583043:exon23:c.2965-1G>C;ENST00000454359:exon28:c.3595-1G>C;ENST00000581161:exon28:c.3501-1G>C;ENST00000437017:exon29:c.3684-1G>C)	.	.	0.999938422912956	0.942
18	67776954	C	T	18	70109718	y	y	splicing	RTTN(NM_173630:exon29:c.3684-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3684-1G>A;ENST00000583043:exon23:c.2965-1G>A;ENST00000454359:exon28:c.3595-1G>A;ENST00000581161:exon28:c.3501-1G>A;ENST00000437017:exon29:c.3684-1G>A)	.	.	0.999938422912956	0.94
18	67776955	T	A	18	70109719	y	y	splicing	RTTN(NM_173630:exon29:c.3684-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3684-2A>T;ENST00000583043:exon23:c.2965-2A>T;ENST00000454359:exon28:c.3595-2A>T;ENST00000581161:exon28:c.3501-2A>T;ENST00000437017:exon29:c.3684-2A>T)	.	.	0.999966514958823	0.958
18	67776955	T	C	18	70109719	y	y	splicing	RTTN(NM_173630:exon29:c.3684-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3684-2A>G;ENST00000583043:exon23:c.2965-2A>G;ENST00000454359:exon28:c.3595-2A>G;ENST00000581161:exon28:c.3501-2A>G;ENST00000437017:exon29:c.3684-2A>G)	.	.	0.999966514958823	0.954
18	67776955	T	G	18	70109719	y	y	splicing	RTTN(NM_173630:exon29:c.3684-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon29:c.3684-2A>C;ENST00000583043:exon23:c.2965-2A>C;ENST00000454359:exon28:c.3595-2A>C;ENST00000581161:exon28:c.3501-2A>C;ENST00000437017:exon29:c.3684-2A>C)	.	.	0.999966514958823	0.954
18	67776956	A	C	18	70109720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.886131963322948	0.648
18	67776956	A	G	18	70109720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.77198140293811E-5	0.052
18	67776956	A	T	18	70109720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00788992798737091	0.252
18	67776957	T	A	18	70109721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.26738755877788E-5	0.018
18	67776957	T	C	18	70109721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.24373206656318E-4	0.056
18	67776957	T	G	18	70109721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.53399015557619E-5	0.01
18	67776958	G	A	18	70109722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.04724408682161E-4	0.0
18	67776958	G	C	18	70109722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999862004933273	0.988
18	67776958	G	T	18	70109722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00116891639225352	0.134
18	67776959	T	A	18	70109723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.15907774097948E-5	0.0
18	67776959	T	C	18	70109723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.4793840787872E-5	0.0
18	67776959	T	G	18	70109723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.44248969813696E-5	0.0
18	67776960	A	C	18	70109724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998817664840529	0.936
18	67776960	A	G	18	70109724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.122928151819E-4	0.12
18	67776960	A	T	18	70109724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0345293911762919	0.196
18	67776961	T	A	18	70109725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.27219349862041E-5	0.0
18	67776961	T	C	18	70109725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.22070297304323E-6	0.002
18	67776961	T	G	18	70109725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.27219349862041E-5	0.0
18	67776962	G	A	18	70109726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.95048459408849E-5	0.008
18	67776962	G	C	18	70109726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.75272572007646E-4	0.04
18	67776962	G	T	18	70109726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.41305085919759E-4	0.01
18	67776963	C	A	18	70109727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.06481237244302E-5	0.0
18	67776963	C	G	18	70109727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.06481237244302E-5	0.0
18	67776963	C	T	18	70109727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.75388619511649E-4	0.024
18	67776964	A	C	18	70109728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.272256525404661	0.516
18	67776964	A	G	18	70109728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00358840542796078	0.154
18	67776964	A	T	18	70109728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999956213652658	0.956
18	67776965	A	C	18	70109729	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00275904417577895	0.186
18	67776965	A	G	18	70109729	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.60032943427627E-4	0.026
18	67776965	A	T	18	70109729	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00309881987430761	0.202
18	67781673	A	C	18	70114437	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.60739322883426E-5	0.0
18	67781673	A	G	18	70114437	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.43864748889191E-5	0.0
18	67781673	A	T	18	70114437	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.43864748889191E-5	0.0
18	67781674	A	C	18	70114438	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.07014835428848E-5	0.004
18	67781674	A	G	18	70114438	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.78958691012223E-5	0.004
18	67781674	A	T	18	70114438	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.11051055797707E-5	0.004
18	67781675	T	A	18	70114439	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.83213722325011E-5	0.026
18	67781675	T	C	18	70114439	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.77575161780391E-5	0.002
18	67781675	T	G	18	70114439	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.65341050190372E-5	0.034
18	67781676	G	A	18	70114440	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.45604980911294E-4	0.012
18	67781676	G	C	18	70114440	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.62264033552436E-4	0.08
18	67781676	G	T	18	70114440	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.26792984124462E-5	0.008
18	67781677	G	A	18	70114441	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00967617044357888	0.118
18	67781677	G	C	18	70114441	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00136365763150254	0.076
18	67781677	G	T	18	70114441	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.00980713289499E-5	0.11
18	67781678	T	A	18	70114442	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999965484974184	0.958
18	67781678	T	C	18	70114442	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99689527247022	0.872
18	67781678	T	G	18	70114442	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999903737939208	0.936
18	67781679	A	C	18	70114443	y	y	splicing	RTTN(NM_173630:exon28:c.3683+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3683+2T>G;ENST00000583043:exon22:c.2964+2T>G;ENST00000454359:exon27:c.3594+2T>G;ENST00000581161:exon27:c.3500+2T>G;ENST00000437017:exon28:c.3683+2T>G)	.	.	0.999988247793601	0.926
18	67781679	A	G	18	70114443	y	y	splicing	RTTN(NM_173630:exon28:c.3683+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3683+2T>C;ENST00000583043:exon22:c.2964+2T>C;ENST00000454359:exon27:c.3594+2T>C;ENST00000581161:exon27:c.3500+2T>C;ENST00000437017:exon28:c.3683+2T>C)	.	.	0.986973409415639	0.602
18	67781679	A	T	18	70114443	y	y	splicing	RTTN(NM_173630:exon28:c.3683+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3683+2T>A;ENST00000583043:exon22:c.2964+2T>A;ENST00000454359:exon27:c.3594+2T>A;ENST00000581161:exon27:c.3500+2T>A;ENST00000437017:exon28:c.3683+2T>A)	.	.	0.999988247793601	0.926
18	67781680	C	A	18	70114444	y	y	splicing	RTTN(NM_173630:exon28:c.3683+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3683+1G>T;ENST00000583043:exon22:c.2964+1G>T;ENST00000454359:exon27:c.3594+1G>T;ENST00000581161:exon27:c.3500+1G>T;ENST00000437017:exon28:c.3683+1G>T)	.	.	0.999986675681007	0.93
18	67781680	C	G	18	70114444	y	y	splicing	RTTN(NM_173630:exon28:c.3683+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3683+1G>C;ENST00000583043:exon22:c.2964+1G>C;ENST00000454359:exon27:c.3594+1G>C;ENST00000581161:exon27:c.3500+1G>C;ENST00000437017:exon28:c.3683+1G>C)	.	.	0.999986675681007	0.93
18	67781680	C	T	18	70114444	y	y	splicing	RTTN(NM_173630:exon28:c.3683+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3683+1G>A;ENST00000583043:exon22:c.2964+1G>A;ENST00000454359:exon27:c.3594+1G>A;ENST00000581161:exon27:c.3500+1G>A;ENST00000437017:exon28:c.3683+1G>A)	.	.	0.999986675681007	0.93
18	67781681	C	A	18	70114445	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.G3683T:p.R1228M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.G3683T:p.R1228M;ENSG00000176225:ENST00000255674:exon27:c.G3683T:p.R1228M;	0.999993456460832	1.0
18	67781681	C	G	18	70114445	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.G3683C:p.R1228T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.G3683C:p.R1228T;ENSG00000176225:ENST00000255674:exon27:c.G3683C:p.R1228T;	0.999997023163208	1.0
18	67781681	C	T	18	70114445	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.G3683A:p.R1228K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.G3683A:p.R1228K;ENSG00000176225:ENST00000255674:exon27:c.G3683A:p.R1228K;	0.999992848648547	1.0
18	67781682	T	A	18	70114446	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.A3682T:p.R1228W;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.A3682T:p.R1228W;ENSG00000176225:ENST00000255674:exon27:c.A3682T:p.R1228W;	0.999954732128491	0.986
18	67781682	T	C	18	70114446	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.A3682G:p.R1228G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.A3682G:p.R1228G;ENSG00000176225:ENST00000255674:exon27:c.A3682G:p.R1228G;	0.999858540566005	0.988
18	67781682	T	G	18	70114446	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon27:c.A3682C:p.R1228R;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.A3682C:p.R1228R;ENSG00000176225:ENST00000255674:exon27:c.A3682C:p.R1228R;	0.993353531199794	0.87
18	67781683	G	A	18	70114447	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon27:c.C3681T:p.D1227D;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.C3681T:p.D1227D;ENSG00000176225:ENST00000255674:exon27:c.C3681T:p.D1227D;	0.973755545431308	0.72
18	67781683	G	C	18	70114447	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.C3681G:p.D1227E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.C3681G:p.D1227E;ENSG00000176225:ENST00000255674:exon27:c.C3681G:p.D1227E;	0.244982262837098	0.402
18	67781683	G	T	18	70114447	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.C3681A:p.D1227E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.C3681A:p.D1227E;ENSG00000176225:ENST00000255674:exon27:c.C3681A:p.D1227E;	0.126517549490038	0.376
18	67781834	C	A	18	70114598	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.G3530T:p.S1177I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.G3530T:p.S1177I;ENSG00000176225:ENST00000255674:exon27:c.G3530T:p.S1177I;	4.35691930090864E-5	0.088
18	67781834	C	G	18	70114598	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.G3530C:p.S1177T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.G3530C:p.S1177T;ENSG00000176225:ENST00000255674:exon27:c.G3530C:p.S1177T;	2.91932843164185E-5	0.0
18	67781834	C	T	18	70114598	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.G3530A:p.S1177N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.G3530A:p.S1177N;ENSG00000176225:ENST00000255674:exon27:c.G3530A:p.S1177N;	1.00178714599213E-5	0.0
18	67781835	T	A	18	70114599	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.A3529T:p.S1177C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.A3529T:p.S1177C;ENSG00000176225:ENST00000255674:exon27:c.A3529T:p.S1177C;	0.00381332203945149	0.134
18	67781835	T	C	18	70114599	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.A3529G:p.S1177G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.A3529G:p.S1177G;ENSG00000176225:ENST00000255674:exon27:c.A3529G:p.S1177G;	8.07429544506716E-5	0.0
18	67781835	T	G	18	70114599	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon27:c.A3529C:p.S1177R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon27:c.A3529C:p.S1177R;ENSG00000176225:ENST00000255674:exon27:c.A3529C:p.S1177R;	0.00158350255058557	0.094
18	67781836	C	A	18	70114600	y	y	splicing	RTTN(NM_173630:exon28:c.3529-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3529-1G>T;ENST00000583043:exon22:c.2810-1G>T;ENST00000454359:exon27:c.3440-1G>T;ENST00000581161:exon27:c.3346-1G>T;ENST00000437017:exon28:c.3529-1G>T)	.	.	0.999984967332678	0.936
18	67781836	C	G	18	70114600	y	y	splicing	RTTN(NM_173630:exon28:c.3529-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3529-1G>C;ENST00000583043:exon22:c.2810-1G>C;ENST00000454359:exon27:c.3440-1G>C;ENST00000581161:exon27:c.3346-1G>C;ENST00000437017:exon28:c.3529-1G>C)	.	.	0.999984967332678	0.936
18	67781836	C	T	18	70114600	y	y	splicing	RTTN(NM_173630:exon28:c.3529-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3529-1G>A;ENST00000583043:exon22:c.2810-1G>A;ENST00000454359:exon27:c.3440-1G>A;ENST00000581161:exon27:c.3346-1G>A;ENST00000437017:exon28:c.3529-1G>A)	.	.	0.999984967332678	0.936
18	67781837	T	A	18	70114601	y	y	splicing	RTTN(NM_173630:exon28:c.3529-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3529-2A>T;ENST00000583043:exon22:c.2810-2A>T;ENST00000454359:exon27:c.3440-2A>T;ENST00000581161:exon27:c.3346-2A>T;ENST00000437017:exon28:c.3529-2A>T)	.	.	0.999986741007567	0.928
18	67781837	T	C	18	70114601	y	y	splicing	RTTN(NM_173630:exon28:c.3529-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3529-2A>G;ENST00000583043:exon22:c.2810-2A>G;ENST00000454359:exon27:c.3440-2A>G;ENST00000581161:exon27:c.3346-2A>G;ENST00000437017:exon28:c.3529-2A>G)	.	.	0.999986741007567	0.928
18	67781837	T	G	18	70114601	y	y	splicing	RTTN(NM_173630:exon28:c.3529-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon28:c.3529-2A>C;ENST00000583043:exon22:c.2810-2A>C;ENST00000454359:exon27:c.3440-2A>C;ENST00000581161:exon27:c.3346-2A>C;ENST00000437017:exon28:c.3529-2A>C)	.	.	0.999986741007567	0.928
18	67781838	A	C	18	70114602	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.983881212886279	0.622
18	67781838	A	G	18	70114602	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.1207853553396E-4	0.022
18	67781838	A	T	18	70114602	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00646762749395126	0.192
18	67781839	A	C	18	70114603	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.02197430858428E-4	0.018
18	67781839	A	G	18	70114603	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.25047503484947E-4	0.018
18	67781839	A	T	18	70114603	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00137058153701048	0.034
18	67781840	A	C	18	70114604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.886336278061404	0.634
18	67781840	A	G	18	70114604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.023772995128613	0.184
18	67781840	A	T	18	70114604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.838793206602111	0.642
18	67781841	A	C	18	70114605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.132319047036179	0.332
18	67781841	A	G	18	70114605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.99437151904848E-4	0.036
18	67781841	A	T	18	70114605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.129837545738184	0.318
18	67781842	A	C	18	70114606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0155039507880106	0.114
18	67781842	A	G	18	70114606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.08061038953272E-4	0.028
18	67781842	A	T	18	70114606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0220374228441341	0.11
18	67781843	A	C	18	70114607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999765944351598	0.994
18	67781843	A	G	18	70114607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.32095151994647E-4	0.08
18	67781843	A	T	18	70114607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0283460226464243	0.174
18	67781844	T	A	18	70114608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.09489955286239E-5	0.004
18	67781844	T	C	18	70114608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.54444570321965E-5	0.006
18	67781844	T	G	18	70114608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.76330291269474E-6	0.006
18	67781845	G	A	18	70114609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.22744512506859E-5	0.028
18	67781845	G	C	18	70114609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00362924530289392	0.048
18	67781845	G	T	18	70114609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00361754706620562	0.036
18	67781846	A	C	18	70114610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.823498310488844	0.506
18	67781846	A	G	18	70114610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00457522526277009	0.176
18	67781846	A	T	18	70114610	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.818994527489238	0.572
18	67781847	A	C	18	70114611	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.203266812106175	0.476
18	67781847	A	G	18	70114611	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00446060109095679	0.11
18	67781847	A	T	18	70114611	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0689217076673814	0.508
18	67788784	C	A	18	70121548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.77381899573897E-5	0.0
18	67788784	C	G	18	70121548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.06554933397701E-5	0.0
18	67788784	C	T	18	70121548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.98737343675279E-5	0.0
18	67788785	C	A	18	70121549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.54185084211015E-4	0.0
18	67788785	C	G	18	70121549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.56017950067266E-5	0.0
18	67788785	C	T	18	70121549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.05477779564876E-4	0.0
18	67788786	A	C	18	70121550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.268999734032468	0.52
18	67788786	A	G	18	70121550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.842910607236296	0.664
18	67788786	A	T	18	70121550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.903636819464292	0.586
18	67788787	C	A	18	70121551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99981138995075	0.922
18	67788787	C	G	18	70121551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999834688693135	0.826
18	67788787	C	T	18	70121551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999903991833813	0.956
18	67788788	T	A	18	70121552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999399353546199	0.902
18	67788788	T	C	18	70121552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999669955682227	0.908
18	67788788	T	G	18	70121552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997979071497541	0.84
18	67788789	T	A	18	70121553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999842725680852	0.882
18	67788789	T	C	18	70121553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0516682026187984	0.312
18	67788789	T	G	18	70121553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999358705606424	0.894
18	67788790	A	C	18	70121554	y	y	splicing	RTTN(NM_173630:exon27:c.3528+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3528+2T>G;ENST00000583043:exon21:c.2809+2T>G;ENST00000454359:exon26:c.3439+2T>G;ENST00000581161:exon26:c.3345+2T>G;ENST00000437017:exon27:c.3528+2T>G)	.	.	0.999988247793601	0.932
18	67788790	A	G	18	70121554	y	y	splicing	RTTN(NM_173630:exon27:c.3528+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3528+2T>C;ENST00000583043:exon21:c.2809+2T>C;ENST00000454359:exon26:c.3439+2T>C;ENST00000581161:exon26:c.3345+2T>C;ENST00000437017:exon27:c.3528+2T>C)	.	.	0.996388929962285	0.726
18	67788790	A	T	18	70121554	y	y	splicing	RTTN(NM_173630:exon27:c.3528+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3528+2T>A;ENST00000583043:exon21:c.2809+2T>A;ENST00000454359:exon26:c.3439+2T>A;ENST00000581161:exon26:c.3345+2T>A;ENST00000437017:exon27:c.3528+2T>A)	.	.	0.999988247793601	0.932
18	67788791	C	A	18	70121555	y	y	splicing	RTTN(NM_173630:exon27:c.3528+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3528+1G>T;ENST00000583043:exon21:c.2809+1G>T;ENST00000454359:exon26:c.3439+1G>T;ENST00000581161:exon26:c.3345+1G>T;ENST00000437017:exon27:c.3528+1G>T)	.	.	0.999990361384395	0.938
18	67788791	C	G	18	70121555	y	y	splicing	RTTN(NM_173630:exon27:c.3528+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3528+1G>C;ENST00000583043:exon21:c.2809+1G>C;ENST00000454359:exon26:c.3439+1G>C;ENST00000581161:exon26:c.3345+1G>C;ENST00000437017:exon27:c.3528+1G>C)	.	.	0.999990361384395	0.938
18	67788791	C	T	18	70121555	y	y	splicing	RTTN(NM_173630:exon27:c.3528+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3528+1G>A;ENST00000583043:exon21:c.2809+1G>A;ENST00000454359:exon26:c.3439+1G>A;ENST00000581161:exon26:c.3345+1G>A;ENST00000437017:exon27:c.3528+1G>A)	.	.	0.999990361384395	0.938
18	67788792	A	C	18	70121556	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.T3528G:p.H1176Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.T3528G:p.H1176Q;ENSG00000176225:ENST00000255674:exon26:c.T3528G:p.H1176Q;	1.5681276765934E-4	0.14
18	67788792	A	G	18	70121556	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon26:c.T3528C:p.H1176H;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.T3528C:p.H1176H;ENSG00000176225:ENST00000255674:exon26:c.T3528C:p.H1176H;	7.26747748753057E-4	0.098
18	67788792	A	T	18	70121556	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.T3528A:p.H1176Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.T3528A:p.H1176Q;ENSG00000176225:ENST00000255674:exon26:c.T3528A:p.H1176Q;	5.2488658989527E-5	0.014
18	67788793	T	A	18	70121557	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.A3527T:p.H1176L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.A3527T:p.H1176L;ENSG00000176225:ENST00000255674:exon26:c.A3527T:p.H1176L;	0.296210897449996	0.554
18	67788793	T	C	18	70121557	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.A3527G:p.H1176R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.A3527G:p.H1176R;ENSG00000176225:ENST00000255674:exon26:c.A3527G:p.H1176R;	0.0393512379535401	0.366
18	67788793	T	G	18	70121557	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.A3527C:p.H1176P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.A3527C:p.H1176P;ENSG00000176225:ENST00000255674:exon26:c.A3527C:p.H1176P;	0.113037514713465	0.506
18	67788794	G	A	18	70121558	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.C3526T:p.H1176Y;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.C3526T:p.H1176Y;ENSG00000176225:ENST00000255674:exon26:c.C3526T:p.H1176Y;	0.999247492936807	0.882
18	67788794	G	C	18	70121558	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.C3526G:p.H1176D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.C3526G:p.H1176D;ENSG00000176225:ENST00000255674:exon26:c.C3526G:p.H1176D;	0.87099223064511	0.556
18	67788794	G	T	18	70121558	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.C3526A:p.H1176N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.C3526A:p.H1176N;ENSG00000176225:ENST00000255674:exon26:c.C3526A:p.H1176N;	0.0400600777581922	0.122
18	67788935	A	C	18	70121699	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.T3385G:p.F1129V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.T3385G:p.F1129V;ENSG00000176225:ENST00000255674:exon26:c.T3385G:p.F1129V;	0.468852092229286	0.652
18	67788935	A	G	18	70121699	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.T3385C:p.F1129L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.T3385C:p.F1129L;ENSG00000176225:ENST00000255674:exon26:c.T3385C:p.F1129L;	0.45604215352336	0.644
18	67788935	A	T	18	70121699	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.T3385A:p.F1129I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.T3385A:p.F1129I;ENSG00000176225:ENST00000255674:exon26:c.T3385A:p.F1129I;	0.454340709917171	0.648
18	67788936	C	A	18	70121700	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.G3384T:p.R1128S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.G3384T:p.R1128S;ENSG00000176225:ENST00000255674:exon26:c.G3384T:p.R1128S;	0.762113054676745	0.512
18	67788936	C	G	18	70121700	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon26:c.G3384C:p.R1128S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.G3384C:p.R1128S;ENSG00000176225:ENST00000255674:exon26:c.G3384C:p.R1128S;	0.0657375362305815	0.296
18	67788936	C	T	18	70121700	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon26:c.G3384A:p.R1128R;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon26:c.G3384A:p.R1128R;ENSG00000176225:ENST00000255674:exon26:c.G3384A:p.R1128R;	4.81273311182007E-4	0.08
18	67788937	C	A	18	70121701	y	y	splicing	RTTN(NM_173630:exon27:c.3384-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3384-1G>T;ENST00000583043:exon21:c.2665-1G>T;ENST00000454359:exon26:c.3295-1G>T;ENST00000581161:exon26:c.3201-1G>T;ENST00000437017:exon27:c.3384-1G>T)	.	.	0.999992367903082	0.926
18	67788937	C	G	18	70121701	y	y	splicing	RTTN(NM_173630:exon27:c.3384-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3384-1G>C;ENST00000583043:exon21:c.2665-1G>C;ENST00000454359:exon26:c.3295-1G>C;ENST00000581161:exon26:c.3201-1G>C;ENST00000437017:exon27:c.3384-1G>C)	.	.	0.999992367903082	0.926
18	67788937	C	T	18	70121701	y	y	splicing	RTTN(NM_173630:exon27:c.3384-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3384-1G>A;ENST00000583043:exon21:c.2665-1G>A;ENST00000454359:exon26:c.3295-1G>A;ENST00000581161:exon26:c.3201-1G>A;ENST00000437017:exon27:c.3384-1G>A)	.	.	0.999992367903082	0.926
18	67788938	T	A	18	70121702	y	y	splicing	RTTN(NM_173630:exon27:c.3384-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3384-2A>T;ENST00000583043:exon21:c.2665-2A>T;ENST00000454359:exon26:c.3295-2A>T;ENST00000581161:exon26:c.3201-2A>T;ENST00000437017:exon27:c.3384-2A>T)	.	.	0.999988247793601	0.93
18	67788938	T	C	18	70121702	y	y	splicing	RTTN(NM_173630:exon27:c.3384-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3384-2A>G;ENST00000583043:exon21:c.2665-2A>G;ENST00000454359:exon26:c.3295-2A>G;ENST00000581161:exon26:c.3201-2A>G;ENST00000437017:exon27:c.3384-2A>G)	.	.	0.999988247793601	0.93
18	67788938	T	G	18	70121702	y	y	splicing	RTTN(NM_173630:exon27:c.3384-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon27:c.3384-2A>C;ENST00000583043:exon21:c.2665-2A>C;ENST00000454359:exon26:c.3295-2A>C;ENST00000581161:exon26:c.3201-2A>C;ENST00000437017:exon27:c.3384-2A>C)	.	.	0.999988247793601	0.93
18	67788939	A	C	18	70121703	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.609126507701068	0.626
18	67788939	A	G	18	70121703	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.98054684962403E-5	0.022
18	67788939	A	T	18	70121703	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00350700671862744	0.206
18	67788940	T	A	18	70121704	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.15059361490713E-5	0.08
18	67788940	T	C	18	70121704	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.08362435668574E-5	0.08
18	67788940	T	G	18	70121704	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.89302806282024E-5	0.094
18	67788941	A	C	18	70121705	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0200901105848217	0.322
18	67788941	A	G	18	70121705	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00625430267165152	0.078
18	67788941	A	T	18	70121705	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0110585207583091	0.322
18	67788942	A	C	18	70121706	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99937888776611	0.94
18	67788942	A	G	18	70121706	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.07121371492062E-5	0.002
18	67788942	A	T	18	70121706	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.47544866238652E-4	0.042
18	67788943	T	A	18	70121707	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.39955458590647E-4	0.016
18	67788943	T	C	18	70121707	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.74950262609662E-4	0.044
18	67788943	T	G	18	70121707	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.66226721784017E-4	0.094
18	67788944	G	A	18	70121708	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.62661236884086E-5	0.034
18	67788944	G	C	18	70121708	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.26263574784411E-4	0.088
18	67788944	G	T	18	70121708	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.10615635654702E-4	0.04
18	67788945	A	C	18	70121709	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0015779136887699	0.088
18	67788945	A	G	18	70121709	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.07522744558152E-4	0.008
18	67788945	A	T	18	70121709	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00145030751198238	0.08
18	67788946	A	C	18	70121710	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00616858161210842	0.1
18	67788946	A	G	18	70121710	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.14829389232167E-4	0.02
18	67788946	A	T	18	70121710	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00816229554504716	0.138
18	67788947	A	C	18	70121711	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00442958073104924	0.198
18	67788947	A	G	18	70121711	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00300095350596557	0.078
18	67788947	A	T	18	70121711	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00671295317681227	0.31
18	67788948	A	C	18	70121712	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00505769231845832	0.09
18	67788948	A	G	18	70121712	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00176933809026889	0.018
18	67788948	A	T	18	70121712	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00171755059992156	0.204
18	67794730	A	C	18	70127494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.09693134415439E-5	0.002
18	67794730	A	G	18	70127494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.20665260186421E-4	0.006
18	67794730	A	T	18	70127494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.53153388482349E-4	0.116
18	67794731	C	A	18	70127495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.87814229485485E-4	0.024
18	67794731	C	G	18	70127495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.63552065436901E-4	0.006
18	67794731	C	T	18	70127495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.4837686486364E-4	0.002
18	67794732	A	C	18	70127496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.678195330961495	0.536
18	67794732	A	G	18	70127496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.783052394417653	0.648
18	67794732	A	T	18	70127496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.72617603799211	0.56
18	67794733	C	A	18	70127497	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996620372619751	0.922
18	67794733	C	G	18	70127497	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.995726260138559	0.836
18	67794733	C	T	18	70127497	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998337396178756	0.954
18	67794734	T	A	18	70127498	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.72382432736534	0.392
18	67794734	T	C	18	70127498	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.376959782157581	0.334
18	67794734	T	G	18	70127498	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.866833642513972	0.368
18	67794735	G	A	18	70127499	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.01640623845005E-4	0.022
18	67794735	G	C	18	70127499	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.9536951029622E-4	0.078
18	67794735	G	T	18	70127499	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.5568245590667E-4	0.132
18	67794736	A	C	18	70127500	y	y	splicing	RTTN(NM_173630:exon26:c.3383+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3383+2T>G;ENST00000583043:exon20:c.2664+2T>G;ENST00000454359:exon25:c.3294+2T>G;ENST00000581161:exon25:c.3200+2T>G;ENST00000437017:exon26:c.3383+2T>G)	.	.	0.999988247793601	0.928
18	67794736	A	G	18	70127500	y	y	splicing	RTTN(NM_173630:exon26:c.3383+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3383+2T>C;ENST00000583043:exon20:c.2664+2T>C;ENST00000454359:exon25:c.3294+2T>C;ENST00000581161:exon25:c.3200+2T>C;ENST00000437017:exon26:c.3383+2T>C)	.	.	0.99340600729494	0.656
18	67794736	A	T	18	70127500	y	y	splicing	RTTN(NM_173630:exon26:c.3383+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3383+2T>A;ENST00000583043:exon20:c.2664+2T>A;ENST00000454359:exon25:c.3294+2T>A;ENST00000581161:exon25:c.3200+2T>A;ENST00000437017:exon26:c.3383+2T>A)	.	.	0.999988247793601	0.928
18	67794737	C	A	18	70127501	y	y	splicing	RTTN(NM_173630:exon26:c.3383+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3383+1G>T;ENST00000583043:exon20:c.2664+1G>T;ENST00000454359:exon25:c.3294+1G>T;ENST00000581161:exon25:c.3200+1G>T;ENST00000437017:exon26:c.3383+1G>T)	.	.	0.999981760802075	0.938
18	67794737	C	G	18	70127501	y	y	splicing	RTTN(NM_173630:exon26:c.3383+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3383+1G>C;ENST00000583043:exon20:c.2664+1G>C;ENST00000454359:exon25:c.3294+1G>C;ENST00000581161:exon25:c.3200+1G>C;ENST00000437017:exon26:c.3383+1G>C)	.	.	0.999981760802075	0.938
18	67794737	C	T	18	70127501	y	y	splicing	RTTN(NM_173630:exon26:c.3383+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3383+1G>A;ENST00000583043:exon20:c.2664+1G>A;ENST00000454359:exon25:c.3294+1G>A;ENST00000581161:exon25:c.3200+1G>A;ENST00000437017:exon26:c.3383+1G>A)	.	.	0.999981760802075	0.938
18	67794738	C	A	18	70127502	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.G3383T:p.R1128M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.G3383T:p.R1128M;ENSG00000176225:ENST00000255674:exon25:c.G3383T:p.R1128M;	0.999975429935958	1.0
18	67794738	C	G	18	70127502	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.G3383C:p.R1128T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.G3383C:p.R1128T;ENSG00000176225:ENST00000255674:exon25:c.G3383C:p.R1128T;	0.999994182471086	1.0
18	67794738	C	T	18	70127502	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.G3383A:p.R1128K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.G3383A:p.R1128K;ENSG00000176225:ENST00000255674:exon25:c.G3383A:p.R1128K;	0.99997316459174	0.998
18	67794739	T	A	18	70127503	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.A3382T:p.R1128W;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3382T:p.R1128W;ENSG00000176225:ENST00000255674:exon25:c.A3382T:p.R1128W;	0.999807571781153	0.986
18	67794739	T	C	18	70127503	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.A3382G:p.R1128G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3382G:p.R1128G;ENSG00000176225:ENST00000255674:exon25:c.A3382G:p.R1128G;	0.99979099447843	0.998
18	67794739	T	G	18	70127503	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon25:c.A3382C:p.R1128R;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3382C:p.R1128R;ENSG00000176225:ENST00000255674:exon25:c.A3382C:p.R1128R;	0.978422103438657	0.726
18	67794740	G	A	18	70127504	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon25:c.C3381T:p.N1127N;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.C3381T:p.N1127N;ENSG00000176225:ENST00000255674:exon25:c.C3381T:p.N1127N;	0.745372740831049	0.662
18	67794740	G	C	18	70127504	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.C3381G:p.N1127K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.C3381G:p.N1127K;ENSG00000176225:ENST00000255674:exon25:c.C3381G:p.N1127K;	0.00923867909615063	0.22
18	67794740	G	T	18	70127504	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.C3381A:p.N1127K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.C3381A:p.N1127K;ENSG00000176225:ENST00000255674:exon25:c.C3381A:p.N1127K;	0.00439598042663884	0.138
18	67794976	T	A	18	70127740	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.A3145T:p.I1049F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3145T:p.I1049F;ENSG00000176225:ENST00000255674:exon25:c.A3145T:p.I1049F;	1.72870973426916E-5	0.02
18	67794976	T	C	18	70127740	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.A3145G:p.I1049V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3145G:p.I1049V;ENSG00000176225:ENST00000255674:exon25:c.A3145G:p.I1049V;	8.14248995675568E-5	0.044
18	67794976	T	G	18	70127740	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.A3145C:p.I1049L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3145C:p.I1049L;ENSG00000176225:ENST00000255674:exon25:c.A3145C:p.I1049L;	4.38988008067946E-4	0.054
18	67794977	T	A	18	70127741	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.A3144T:p.E1048D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3144T:p.E1048D;ENSG00000176225:ENST00000255674:exon25:c.A3144T:p.E1048D;	5.73743273094052E-5	0.04
18	67794977	T	C	18	70127741	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon25:c.A3144G:p.E1048E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3144G:p.E1048E;ENSG00000176225:ENST00000255674:exon25:c.A3144G:p.E1048E;	2.02333563395989E-5	0.0
18	67794977	T	G	18	70127741	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon25:c.A3144C:p.E1048D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon25:c.A3144C:p.E1048D;ENSG00000176225:ENST00000255674:exon25:c.A3144C:p.E1048D;	4.91435609597792E-5	0.068
18	67794978	C	A	18	70127742	y	y	splicing	RTTN(NM_173630:exon26:c.3144-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3144-1G>T;ENST00000583043:exon20:c.2425-1G>T;ENST00000454359:exon25:c.3055-1G>T;ENST00000581161:exon25:c.2961-1G>T;ENST00000437017:exon26:c.3144-1G>T)	.	.	0.999915710762489	0.938
18	67794978	C	G	18	70127742	y	y	splicing	RTTN(NM_173630:exon26:c.3144-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3144-1G>C;ENST00000583043:exon20:c.2425-1G>C;ENST00000454359:exon25:c.3055-1G>C;ENST00000581161:exon25:c.2961-1G>C;ENST00000437017:exon26:c.3144-1G>C)	.	.	0.999915710762489	0.938
18	67794978	C	T	18	70127742	y	y	splicing	RTTN(NM_173630:exon26:c.3144-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3144-1G>A;ENST00000583043:exon20:c.2425-1G>A;ENST00000454359:exon25:c.3055-1G>A;ENST00000581161:exon25:c.2961-1G>A;ENST00000437017:exon26:c.3144-1G>A)	.	.	0.999915710762489	0.936
18	67794979	T	A	18	70127743	y	y	splicing	RTTN(NM_173630:exon26:c.3144-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3144-2A>T;ENST00000583043:exon20:c.2425-2A>T;ENST00000454359:exon25:c.3055-2A>T;ENST00000581161:exon25:c.2961-2A>T;ENST00000437017:exon26:c.3144-2A>T)	.	.	0.999966203349492	0.926
18	67794979	T	C	18	70127743	y	y	splicing	RTTN(NM_173630:exon26:c.3144-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3144-2A>G;ENST00000583043:exon20:c.2425-2A>G;ENST00000454359:exon25:c.3055-2A>G;ENST00000581161:exon25:c.2961-2A>G;ENST00000437017:exon26:c.3144-2A>G)	.	.	0.999966203349492	0.93
18	67794979	T	G	18	70127743	y	y	splicing	RTTN(NM_173630:exon26:c.3144-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon26:c.3144-2A>C;ENST00000583043:exon20:c.2425-2A>C;ENST00000454359:exon25:c.3055-2A>C;ENST00000581161:exon25:c.2961-2A>C;ENST00000437017:exon26:c.3144-2A>C)	.	.	0.999966203349492	0.93
18	67794980	A	C	18	70127744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.789075712709633	0.644
18	67794980	A	G	18	70127744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.86318023313555E-4	0.032
18	67794980	A	T	18	70127744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.159478650128883	0.238
18	67794981	G	A	18	70127745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.04123595584524E-5	0.0
18	67794981	G	C	18	70127745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.04123595584524E-5	0.0
18	67794981	G	T	18	70127745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.28759001588671E-5	0.002
18	67794982	A	C	18	70127746	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0013133065049561	0.206
18	67794982	A	G	18	70127746	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.2323412908075E-5	0.014
18	67794982	A	T	18	70127746	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.4524428599167E-4	0.12
18	67794983	C	A	18	70127747	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.05729623297087E-5	0.002
18	67794983	C	G	18	70127747	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.52740485933595E-5	0.0
18	67794983	C	T	18	70127747	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.20991130903153E-5	0.0
18	67794984	A	C	18	70127748	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.50432680001584E-4	0.088
18	67794984	A	G	18	70127748	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.83467270234437E-4	0.074
18	67794984	A	T	18	70127748	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998817500492082	0.972
18	67794985	A	C	18	70127749	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.56463149648576E-5	0.07
18	67794985	A	G	18	70127749	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.70192786856515E-5	0.006
18	67794985	A	T	18	70127749	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.78771416571847E-4	0.058
18	67794986	A	C	18	70127750	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.29440729242844E-4	0.064
18	67794986	A	G	18	70127750	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.92001189839265E-5	0.012
18	67794986	A	T	18	70127750	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.55401072303471E-4	0.086
18	67794987	A	C	18	70127751	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.77929790033856E-5	0.068
18	67794987	A	G	18	70127751	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.56239810628174E-6	0.028
18	67794987	A	T	18	70127751	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.57644639123513E-5	0.064
18	67794988	A	C	18	70127752	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.91599471228345E-4	0.218
18	67794988	A	G	18	70127752	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00148066276324116	0.15
18	67794988	A	T	18	70127752	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.19230217766028E-4	0.204
18	67794989	G	A	18	70127753	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.14400892560759E-5	0.024
18	67794989	G	C	18	70127753	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.63559494055956E-4	0.054
18	67794989	G	T	18	70127753	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.24373237910104E-4	0.026
18	67795586	G	A	18	70128350	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.40461526262865E-4	0.014
18	67795586	G	C	18	70128350	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.82595857807566E-4	0.0
18	67795586	G	T	18	70128350	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.97117985328624E-4	0.018
18	67795587	A	C	18	70128351	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.55410418771981E-5	0.0
18	67795587	A	G	18	70128351	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.55410418771981E-5	0.0
18	67795587	A	T	18	70128351	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.55410418771981E-5	0.002
18	67795588	G	A	18	70128352	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.18879334397003E-4	0.078
18	67795588	G	C	18	70128352	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.55788246610387E-4	0.124
18	67795588	G	T	18	70128352	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00379241197188183	0.148
18	67795589	C	A	18	70128353	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999992585926481	0.99
18	67795589	C	G	18	70128353	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999995308362077	0.988
18	67795589	C	T	18	70128353	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999977228443914	0.99
18	67795590	T	A	18	70128354	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.950940702995312	0.8
18	67795590	T	C	18	70128354	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.976694963753065	0.86
18	67795590	T	G	18	70128354	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.995863665615993	0.828
18	67795591	T	A	18	70128355	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999717568431147	0.906
18	67795591	T	C	18	70128355	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.37849361012029	0.46
18	67795591	T	G	18	70128355	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999835090039653	0.91
18	67795592	A	C	18	70128356	y	y	splicing	RTTN(NM_173630:exon25:c.3143+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.3143+2T>G;ENST00000583043:exon19:c.2424+2T>G;ENST00000454359:exon24:c.3054+2T>G;ENST00000581161:exon24:c.2960+2T>G;ENST00000437017:exon25:c.3143+2T>G)	.	.	0.999946188727699	0.942
18	67795592	A	G	18	70128356	y	y	splicing	RTTN(NM_173630:exon25:c.3143+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.3143+2T>C;ENST00000583043:exon19:c.2424+2T>C;ENST00000454359:exon24:c.3054+2T>C;ENST00000581161:exon24:c.2960+2T>C;ENST00000437017:exon25:c.3143+2T>C)	.	.	0.999649303062008	0.886
18	67795592	A	T	18	70128356	y	y	splicing	RTTN(NM_173630:exon25:c.3143+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.3143+2T>A;ENST00000583043:exon19:c.2424+2T>A;ENST00000454359:exon24:c.3054+2T>A;ENST00000581161:exon24:c.2960+2T>A;ENST00000437017:exon25:c.3143+2T>A)	.	.	0.99994568797423	0.944
18	67795593	C	A	18	70128357	y	y	splicing	RTTN(NM_173630:exon25:c.3143+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.3143+1G>T;ENST00000583043:exon19:c.2424+1G>T;ENST00000454359:exon24:c.3054+1G>T;ENST00000581161:exon24:c.2960+1G>T;ENST00000437017:exon25:c.3143+1G>T)	.	.	0.99995545544995	0.948
18	67795593	C	G	18	70128357	y	y	splicing	RTTN(NM_173630:exon25:c.3143+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.3143+1G>C;ENST00000583043:exon19:c.2424+1G>C;ENST00000454359:exon24:c.3054+1G>C;ENST00000581161:exon24:c.2960+1G>C;ENST00000437017:exon25:c.3143+1G>C)	.	.	0.99995586615188	0.942
18	67795593	C	T	18	70128357	y	y	splicing	RTTN(NM_173630:exon25:c.3143+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.3143+1G>A;ENST00000583043:exon19:c.2424+1G>A;ENST00000454359:exon24:c.3054+1G>A;ENST00000581161:exon24:c.2960+1G>A;ENST00000437017:exon25:c.3143+1G>A)	.	.	0.99995545544995	0.948
18	67795594	T	A	18	70128358	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.A3143T:p.E1048V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.A3143T:p.E1048V;ENSG00000176225:ENST00000255674:exon24:c.A3143T:p.E1048V;	0.885514844732743	0.586
18	67795594	T	C	18	70128358	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.A3143G:p.E1048G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.A3143G:p.E1048G;ENSG00000176225:ENST00000255674:exon24:c.A3143G:p.E1048G;	0.0701084199972418	0.102
18	67795594	T	G	18	70128358	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.A3143C:p.E1048A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.A3143C:p.E1048A;ENSG00000176225:ENST00000255674:exon24:c.A3143C:p.E1048A;	0.541309125647477	0.69
18	67795595	C	A	18	70128359	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon24:c.G3142T:p.E1048X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon24:c.G3142T:p.E1048X;ENSG00000176225:ENST00000255674:exon24:c.G3142T:p.E1048X;	0.359124013222381	0.516
18	67795595	C	G	18	70128359	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.G3142C:p.E1048Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.G3142C:p.E1048Q;ENSG00000176225:ENST00000255674:exon24:c.G3142C:p.E1048Q;	0.00256943468337452	0.134
18	67795595	C	T	18	70128359	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.G3142A:p.E1048K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.G3142A:p.E1048K;ENSG00000176225:ENST00000255674:exon24:c.G3142A:p.E1048K;	0.00654430277683145	0.122
18	67795596	T	A	18	70128360	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.A3141T:p.Q1047H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.A3141T:p.Q1047H;ENSG00000176225:ENST00000255674:exon24:c.A3141T:p.Q1047H;	0.0217301596100699	0.34
18	67795596	T	C	18	70128360	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon24:c.A3141G:p.Q1047Q;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.A3141G:p.Q1047Q;ENSG00000176225:ENST00000255674:exon24:c.A3141G:p.Q1047Q;	2.7416813464636E-4	0.066
18	67795596	T	G	18	70128360	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.A3141C:p.Q1047H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.A3141C:p.Q1047H;ENSG00000176225:ENST00000255674:exon24:c.A3141C:p.Q1047H;	5.69808924651235E-5	0.004
18	67795781	A	C	18	70128545	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.T2956G:p.Y986D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.T2956G:p.Y986D;ENSG00000176225:ENST00000255674:exon24:c.T2956G:p.Y986D;	0.288536121147674	0.528
18	67795781	A	G	18	70128545	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.T2956C:p.Y986H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.T2956C:p.Y986H;ENSG00000176225:ENST00000255674:exon24:c.T2956C:p.Y986H;	0.37800894276817	0.494
18	67795781	A	T	18	70128545	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.T2956A:p.Y986N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.T2956A:p.Y986N;ENSG00000176225:ENST00000255674:exon24:c.T2956A:p.Y986N;	0.232416644200354	0.512
18	67795782	C	A	18	70128546	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.G2955T:p.R985S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.G2955T:p.R985S;ENSG00000176225:ENST00000255674:exon24:c.G2955T:p.R985S;	0.993416695400922	0.96
18	67795782	C	G	18	70128546	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon24:c.G2955C:p.R985S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.G2955C:p.R985S;ENSG00000176225:ENST00000255674:exon24:c.G2955C:p.R985S;	0.995228796187041	0.91
18	67795782	C	T	18	70128546	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon24:c.G2955A:p.R985R;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon24:c.G2955A:p.R985R;ENSG00000176225:ENST00000255674:exon24:c.G2955A:p.R985R;	0.378850798105907	0.324
18	67795783	C	A	18	70128547	y	y	splicing	RTTN(NM_173630:exon25:c.2955-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.2955-1G>T;ENST00000583043:exon19:c.2236-1G>T;ENST00000454359:exon24:c.2866-1G>T;ENST00000581161:exon24:c.2772-1G>T;ENST00000437017:exon25:c.2955-1G>T)	.	.	0.999985532734767	0.936
18	67795783	C	G	18	70128547	y	y	splicing	RTTN(NM_173630:exon25:c.2955-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.2955-1G>C;ENST00000583043:exon19:c.2236-1G>C;ENST00000454359:exon24:c.2866-1G>C;ENST00000581161:exon24:c.2772-1G>C;ENST00000437017:exon25:c.2955-1G>C)	.	.	0.999985532734767	0.936
18	67795783	C	T	18	70128547	y	y	splicing	RTTN(NM_173630:exon25:c.2955-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.2955-1G>A;ENST00000583043:exon19:c.2236-1G>A;ENST00000454359:exon24:c.2866-1G>A;ENST00000581161:exon24:c.2772-1G>A;ENST00000437017:exon25:c.2955-1G>A)	.	.	0.999985532734767	0.936
18	67795784	T	A	18	70128548	y	y	splicing	RTTN(NM_173630:exon25:c.2955-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.2955-2A>T;ENST00000583043:exon19:c.2236-2A>T;ENST00000454359:exon24:c.2866-2A>T;ENST00000581161:exon24:c.2772-2A>T;ENST00000437017:exon25:c.2955-2A>T)	.	.	0.999988247793601	0.928
18	67795784	T	C	18	70128548	y	y	splicing	RTTN(NM_173630:exon25:c.2955-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.2955-2A>G;ENST00000583043:exon19:c.2236-2A>G;ENST00000454359:exon24:c.2866-2A>G;ENST00000581161:exon24:c.2772-2A>G;ENST00000437017:exon25:c.2955-2A>G)	.	.	0.999988247793601	0.926
18	67795784	T	G	18	70128548	y	y	splicing	RTTN(NM_173630:exon25:c.2955-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon25:c.2955-2A>C;ENST00000583043:exon19:c.2236-2A>C;ENST00000454359:exon24:c.2866-2A>C;ENST00000581161:exon24:c.2772-2A>C;ENST00000437017:exon25:c.2955-2A>C)	.	.	0.999988247793601	0.926
18	67795785	A	C	18	70128549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.993717647849116	0.704
18	67795785	A	G	18	70128549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.92126715046397E-5	0.008
18	67795785	A	T	18	70128549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0103173478991085	0.25
18	67795786	A	C	18	70128550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.03638428194116E-4	0.018
18	67795786	A	G	18	70128550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.88273934023045E-5	0.012
18	67795786	A	T	18	70128550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.39813879087575E-4	0.044
18	67795787	A	C	18	70128551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.940225807958832	0.52
18	67795787	A	G	18	70128551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.08305993080357E-4	0.026
18	67795787	A	T	18	70128551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.709791852223955	0.566
18	67795788	G	A	18	70128552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.7980399283872E-5	0.0
18	67795788	G	C	18	70128552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0110144359780064	0.246
18	67795788	G	T	18	70128552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00653640552630452	0.234
18	67795789	A	C	18	70128553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0067880693032056	0.112
18	67795789	A	G	18	70128553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.37118690303205E-5	0.008
18	67795789	A	T	18	70128553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00893671193765422	0.118
18	67795790	A	C	18	70128554	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0240778395197936	0.286
18	67795790	A	G	18	70128554	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.75195573187946E-4	0.012
18	67795790	A	T	18	70128554	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.151302413017114	0.348
18	67795791	A	C	18	70128555	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.430670836754492	0.542
18	67795791	A	G	18	70128555	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00538235701141762	0.02
18	67795791	A	T	18	70128555	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.523871209059228	0.502
18	67795792	A	C	18	70128556	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999945002402202	0.936
18	67795792	A	G	18	70128556	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00110170201897092	0.044
18	67795792	A	T	18	70128556	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.951159473035953	0.732
18	67795793	T	A	18	70128557	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.62171003232379E-4	0.13
18	67795793	T	C	18	70128557	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.96677909536308E-5	0.01
18	67795793	T	G	18	70128557	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.85017382282325E-5	0.006
18	67795794	G	A	18	70128558	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.90907323729182E-5	0.0
18	67795794	G	C	18	70128558	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998895697186359	0.98
18	67795794	G	T	18	70128558	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.26250796844035E-5	0.002
18	67801701	T	A	18	70134465	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.41374589309262E-4	0.002
18	67801701	T	C	18	70134465	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.24716589611972E-4	0.0
18	67801701	T	G	18	70134465	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.11372067014007E-4	0.068
18	67801702	C	A	18	70134466	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.19165523950807E-5	0.02
18	67801702	C	G	18	70134466	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.23806270427549E-5	0.006
18	67801702	C	T	18	70134466	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.58376800662124E-5	0.006
18	67801703	C	A	18	70134467	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.0759449761358E-5	0.044
18	67801703	C	G	18	70134467	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.07705699197099E-4	0.02
18	67801703	C	T	18	70134467	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.90192624311433E-5	0.026
18	67801704	T	A	18	70134468	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.53589702980042E-4	0.116
18	67801704	T	C	18	70134468	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.24235451098134E-5	0.034
18	67801704	T	G	18	70134468	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.42487936235572E-4	0.054
18	67801705	T	A	18	70134469	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.576746821823691	0.52
18	67801705	T	C	18	70134469	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.796862575097193	0.602
18	67801705	T	G	18	70134469	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.324780804996775	0.398
18	67801706	T	A	18	70134470	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998725528165143	0.952
18	67801706	T	C	18	70134470	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.873643525139877	0.796
18	67801706	T	G	18	70134470	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99993537765368	0.924
18	67801707	A	C	18	70134471	y	y	splicing	RTTN(NM_173630:exon24:c.2954+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2954+2T>G;ENST00000583043:exon18:c.2235+2T>G;ENST00000454359:exon23:c.2865+2T>G;ENST00000581161:exon23:c.2771+2T>G;ENST00000437017:exon24:c.2954+2T>G)	.	.	0.999990764389106	0.942
18	67801707	A	G	18	70134471	y	y	splicing	RTTN(NM_173630:exon24:c.2954+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2954+2T>C;ENST00000583043:exon18:c.2235+2T>C;ENST00000454359:exon23:c.2865+2T>C;ENST00000581161:exon23:c.2771+2T>C;ENST00000437017:exon24:c.2954+2T>C)	.	.	0.995805971503043	0.656
18	67801707	A	T	18	70134471	y	y	splicing	RTTN(NM_173630:exon24:c.2954+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2954+2T>A;ENST00000583043:exon18:c.2235+2T>A;ENST00000454359:exon23:c.2865+2T>A;ENST00000581161:exon23:c.2771+2T>A;ENST00000437017:exon24:c.2954+2T>A)	.	.	0.999990764389106	0.942
18	67801708	C	A	18	70134472	y	y	splicing	RTTN(NM_173630:exon24:c.2954+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2954+1G>T;ENST00000583043:exon18:c.2235+1G>T;ENST00000454359:exon23:c.2865+1G>T;ENST00000581161:exon23:c.2771+1G>T;ENST00000437017:exon24:c.2954+1G>T)	.	.	0.999991412108771	0.938
18	67801708	C	G	18	70134472	y	y	splicing	RTTN(NM_173630:exon24:c.2954+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2954+1G>C;ENST00000583043:exon18:c.2235+1G>C;ENST00000454359:exon23:c.2865+1G>C;ENST00000581161:exon23:c.2771+1G>C;ENST00000437017:exon24:c.2954+1G>C)	.	.	0.999991412108771	0.938
18	67801708	C	T	18	70134472	y	y	splicing	RTTN(NM_173630:exon24:c.2954+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2954+1G>A;ENST00000583043:exon18:c.2235+1G>A;ENST00000454359:exon23:c.2865+1G>A;ENST00000581161:exon23:c.2771+1G>A;ENST00000437017:exon24:c.2954+1G>A)	.	.	0.999991412108771	0.938
18	67801709	C	A	18	70134473	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.G2954T:p.R985M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.G2954T:p.R985M;ENSG00000176225:ENST00000255674:exon23:c.G2954T:p.R985M;	0.999992194453579	1.0
18	67801709	C	G	18	70134473	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.G2954C:p.R985T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.G2954C:p.R985T;ENSG00000176225:ENST00000255674:exon23:c.G2954C:p.R985T;	0.999997871243653	1.0
18	67801709	C	T	18	70134473	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.G2954A:p.R985K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.G2954A:p.R985K;ENSG00000176225:ENST00000255674:exon23:c.G2954A:p.R985K;	0.999994852213605	1.0
18	67801710	T	A	18	70134474	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.A2953T:p.R985W;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.A2953T:p.R985W;ENSG00000176225:ENST00000255674:exon23:c.A2953T:p.R985W;	0.999434282926976	0.928
18	67801710	T	C	18	70134474	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.A2953G:p.R985G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.A2953G:p.R985G;ENSG00000176225:ENST00000255674:exon23:c.A2953G:p.R985G;	0.999606392862259	0.928
18	67801710	T	G	18	70134474	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon23:c.A2953C:p.R985R;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.A2953C:p.R985R;ENSG00000176225:ENST00000255674:exon23:c.A2953C:p.R985R;	0.824782601609324	0.642
18	67801711	T	A	18	70134475	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.A2952T:p.R984S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.A2952T:p.R984S;ENSG00000176225:ENST00000255674:exon23:c.A2952T:p.R984S;	0.87537666603992	0.676
18	67801711	T	C	18	70134475	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon23:c.A2952G:p.R984R;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.A2952G:p.R984R;ENSG00000176225:ENST00000255674:exon23:c.A2952G:p.R984R;	0.00650417010829334	0.17
18	67801711	T	G	18	70134475	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.A2952C:p.R984S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.A2952C:p.R984S;ENSG00000176225:ENST00000255674:exon23:c.A2952C:p.R984S;	0.0636261684840233	0.23
18	67801776	A	C	18	70134540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.T2887G:p.S963A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.T2887G:p.S963A;ENSG00000176225:ENST00000255674:exon23:c.T2887G:p.S963A;	0.0626891781462419	0.118
18	67801776	A	G	18	70134540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.T2887C:p.S963P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.T2887C:p.S963P;ENSG00000176225:ENST00000255674:exon23:c.T2887C:p.S963P;	0.0194074883470313	0.128
18	67801776	A	T	18	70134540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.T2887A:p.S963T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.T2887A:p.S963T;ENSG00000176225:ENST00000255674:exon23:c.T2887A:p.S963T;	0.0127475939200485	0.088
18	67801777	C	A	18	70134541	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.G2886T:p.W962C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.G2886T:p.W962C;ENSG00000176225:ENST00000255674:exon23:c.G2886T:p.W962C;	0.995677765511033	0.716
18	67801777	C	G	18	70134541	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon23:c.G2886C:p.W962C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon23:c.G2886C:p.W962C;ENSG00000176225:ENST00000255674:exon23:c.G2886C:p.W962C;	0.986860496937359	0.65
18	67801777	C	T	18	70134541	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon23:c.G2886A:p.W962X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon23:c.G2886A:p.W962X;ENSG00000176225:ENST00000255674:exon23:c.G2886A:p.W962X;	0.999908990927086	0.968
18	67801778	C	A	18	70134542	y	y	splicing	RTTN(NM_173630:exon24:c.2886-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2886-1G>T;ENST00000583043:exon18:c.2167-1G>T;ENST00000454359:exon23:c.2797-1G>T;ENST00000581161:exon23:c.2703-1G>T;ENST00000437017:exon24:c.2886-1G>T)	.	.	0.999968430223941	0.836
18	67801778	C	G	18	70134542	y	y	splicing	RTTN(NM_173630:exon24:c.2886-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2886-1G>C;ENST00000583043:exon18:c.2167-1G>C;ENST00000454359:exon23:c.2797-1G>C;ENST00000581161:exon23:c.2703-1G>C;ENST00000437017:exon24:c.2886-1G>C)	.	.	0.999968430223941	0.882
18	67801778	C	T	18	70134542	y	y	splicing	RTTN(NM_173630:exon24:c.2886-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2886-1G>A;ENST00000583043:exon18:c.2167-1G>A;ENST00000454359:exon23:c.2797-1G>A;ENST00000581161:exon23:c.2703-1G>A;ENST00000437017:exon24:c.2886-1G>A)	.	.	0.99996748057446	0.9
18	67801779	T	A	18	70134543	y	y	splicing	RTTN(NM_173630:exon24:c.2886-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2886-2A>T;ENST00000583043:exon18:c.2167-2A>T;ENST00000454359:exon23:c.2797-2A>T;ENST00000581161:exon23:c.2703-2A>T;ENST00000437017:exon24:c.2886-2A>T)	.	.	0.999972155025474	0.846
18	67801779	T	C	18	70134543	y	y	splicing	RTTN(NM_173630:exon24:c.2886-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2886-2A>G;ENST00000583043:exon18:c.2167-2A>G;ENST00000454359:exon23:c.2797-2A>G;ENST00000581161:exon23:c.2703-2A>G;ENST00000437017:exon24:c.2886-2A>G)	.	.	0.999969255906173	0.858
18	67801779	T	G	18	70134543	y	y	splicing	RTTN(NM_173630:exon24:c.2886-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon24:c.2886-2A>C;ENST00000583043:exon18:c.2167-2A>C;ENST00000454359:exon23:c.2797-2A>C;ENST00000581161:exon23:c.2703-2A>C;ENST00000437017:exon24:c.2886-2A>C)	.	.	0.999969255906173	0.856
18	67801780	A	C	18	70134544	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.731400663015756	0.686
18	67801780	A	G	18	70134544	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.28641740264701E-5	0.012
18	67801780	A	T	18	70134544	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0261222769716076	0.31
18	67801781	T	A	18	70134545	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.25280514854958E-5	0.008
18	67801781	T	C	18	70134545	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998640757516652	0.952
18	67801781	T	G	18	70134545	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.54243607035996E-5	0.036
18	67801782	T	A	18	70134546	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.99380865208843E-5	0.134
18	67801782	T	C	18	70134546	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998437838865756	0.996
18	67801782	T	G	18	70134546	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.60601955450024E-5	0.0
18	67801783	T	A	18	70134547	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.58645906776164E-5	0.002
18	67801783	T	C	18	70134547	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.32876389328766E-5	0.004
18	67801783	T	G	18	70134547	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.58645906776164E-5	0.008
18	67801784	C	A	18	70134548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.8510172885272E-5	0.008
18	67801784	C	G	18	70134548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.8510172885272E-5	0.0
18	67801784	C	T	18	70134548	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.695450509108E-4	0.004
18	67801785	A	C	18	70134549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999156683962617	0.918
18	67801785	A	G	18	70134549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.19363333766295E-5	0.0
18	67801785	A	T	18	70134549	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999265552623345	0.9
18	67801786	T	A	18	70134550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.33684777350849E-5	0.004
18	67801786	T	C	18	70134550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.52947969244233E-5	0.002
18	67801786	T	G	18	70134550	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.33684777350849E-5	0.0
18	67801787	A	C	18	70134551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0114693049531296	0.316
18	67801787	A	G	18	70134551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00118368958623657	0.118
18	67801787	A	T	18	70134551	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.145032441383072	0.402
18	67801788	A	C	18	70134552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.457020175448163	0.698
18	67801788	A	G	18	70134552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0177283001687313	0.322
18	67801788	A	T	18	70134552	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.800286224857443	0.734
18	67801789	A	C	18	70134553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0240918426487367	0.422
18	67801789	A	G	18	70134553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.75589013701118E-4	0.04
18	67801789	A	T	18	70134553	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.573075812287482	0.648
18	67802412	T	A	18	70135176	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.89661753908941E-5	0.014
18	67802412	T	C	18	70135176	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.91984607335365E-5	0.0
18	67802412	T	G	18	70135176	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.6778747199597E-5	0.002
18	67802413	A	C	18	70135177	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.72009936580556E-4	0.032
18	67802413	A	G	18	70135177	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.15311317963743E-4	0.008
18	67802413	A	T	18	70135177	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.42153444204301E-4	0.01
18	67802414	T	A	18	70135178	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.60342987069694E-5	0.002
18	67802414	T	C	18	70135178	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.42527198644731E-5	0.0
18	67802414	T	G	18	70135178	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.30908734381023E-5	0.012
18	67802415	C	A	18	70135179	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999908664307347	0.952
18	67802415	C	G	18	70135179	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999933168511167	0.966
18	67802415	C	T	18	70135179	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999913285683425	0.956
18	67802416	T	A	18	70135180	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998606596143354	0.864
18	67802416	T	C	18	70135180	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998329258584963	0.884
18	67802416	T	G	18	70135180	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.965229707796105	0.802
18	67802417	C	A	18	70135181	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.905358932956637	0.476
18	67802417	C	G	18	70135181	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.742858320547331	0.5
18	67802417	C	T	18	70135181	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.63548545563855E-5	0.0
18	67802418	A	C	18	70135182	y	y	splicing	RTTN(NM_173630:exon23:c.2885+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2885+2T>G;ENST00000583043:exon17:c.2166+2T>G;ENST00000454359:exon22:c.2796+2T>G;ENST00000581161:exon22:c.2702+2T>G;ENST00000437017:exon23:c.2885+2T>G)	.	.	0.999989917668626	0.93
18	67802418	A	G	18	70135182	y	y	splicing	RTTN(NM_173630:exon23:c.2885+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2885+2T>C;ENST00000583043:exon17:c.2166+2T>C;ENST00000454359:exon22:c.2796+2T>C;ENST00000581161:exon22:c.2702+2T>C;ENST00000437017:exon23:c.2885+2T>C)	.	.	0.999985870680488	0.942
18	67802418	A	T	18	70135182	y	y	splicing	RTTN(NM_173630:exon23:c.2885+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2885+2T>A;ENST00000583043:exon17:c.2166+2T>A;ENST00000454359:exon22:c.2796+2T>A;ENST00000581161:exon22:c.2702+2T>A;ENST00000437017:exon23:c.2885+2T>A)	.	.	0.999989917668626	0.936
18	67802419	C	A	18	70135183	y	y	splicing	RTTN(NM_173630:exon23:c.2885+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2885+1G>T;ENST00000583043:exon17:c.2166+1G>T;ENST00000454359:exon22:c.2796+1G>T;ENST00000581161:exon22:c.2702+1G>T;ENST00000437017:exon23:c.2885+1G>T)	.	.	0.999986675681007	0.938
18	67802419	C	G	18	70135183	y	y	splicing	RTTN(NM_173630:exon23:c.2885+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2885+1G>C;ENST00000583043:exon17:c.2166+1G>C;ENST00000454359:exon22:c.2796+1G>C;ENST00000581161:exon22:c.2702+1G>C;ENST00000437017:exon23:c.2885+1G>C)	.	.	0.999986675681007	0.938
18	67802419	C	T	18	70135183	y	y	splicing	RTTN(NM_173630:exon23:c.2885+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2885+1G>A;ENST00000583043:exon17:c.2166+1G>A;ENST00000454359:exon22:c.2796+1G>A;ENST00000581161:exon22:c.2702+1G>A;ENST00000437017:exon23:c.2885+1G>A)	.	.	0.999986675681007	0.938
18	67802420	C	A	18	70135184	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.G2885T:p.W962L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.G2885T:p.W962L;ENSG00000176225:ENST00000255674:exon22:c.G2885T:p.W962L;	0.999992979528573	0.952
18	67802420	C	G	18	70135184	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.G2885C:p.W962S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.G2885C:p.W962S;ENSG00000176225:ENST00000255674:exon22:c.G2885C:p.W962S;	0.999996870966768	0.998
18	67802420	C	T	18	70135184	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon22:c.G2885A:p.W962X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon22:c.G2885A:p.W962X;ENSG00000176225:ENST00000255674:exon22:c.G2885A:p.W962X;	0.999997769057643	0.978
18	67802421	A	C	18	70135185	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.T2884G:p.W962G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2884G:p.W962G;ENSG00000176225:ENST00000255674:exon22:c.T2884G:p.W962G;	0.490522178792237	0.504
18	67802421	A	G	18	70135185	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.T2884C:p.W962R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2884C:p.W962R;ENSG00000176225:ENST00000255674:exon22:c.T2884C:p.W962R;	0.884634323751902	0.794
18	67802421	A	T	18	70135185	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.T2884A:p.W962R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2884A:p.W962R;ENSG00000176225:ENST00000255674:exon22:c.T2884A:p.W962R;	0.502967630280862	0.548
18	67802422	C	A	18	70135186	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.G2883T:p.M961I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.G2883T:p.M961I;ENSG00000176225:ENST00000255674:exon22:c.G2883T:p.M961I;	1.20978126257372E-4	0.008
18	67802422	C	G	18	70135186	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.G2883C:p.M961I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.G2883C:p.M961I;ENSG00000176225:ENST00000255674:exon22:c.G2883C:p.M961I;	1.04750799185399E-4	0.04
18	67802422	C	T	18	70135186	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.G2883A:p.M961I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.G2883A:p.M961I;ENSG00000176225:ENST00000255674:exon22:c.G2883A:p.M961I;	1.04750799185399E-4	0.0
18	67802515	A	C	18	70135279	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon22:c.T2790G:p.V930V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2790G:p.V930V;ENSG00000176225:ENST00000255674:exon22:c.T2790G:p.V930V;	2.75936560600163E-4	0.006
18	67802515	A	G	18	70135279	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon22:c.T2790C:p.V930V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2790C:p.V930V;ENSG00000176225:ENST00000255674:exon22:c.T2790C:p.V930V;	3.89662372712964E-4	0.012
18	67802515	A	T	18	70135279	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon22:c.T2790A:p.V930V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2790A:p.V930V;ENSG00000176225:ENST00000255674:exon22:c.T2790A:p.V930V;	6.74432471131232E-4	0.028
18	67802516	A	C	18	70135280	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.T2789G:p.V930G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2789G:p.V930G;ENSG00000176225:ENST00000255674:exon22:c.T2789G:p.V930G;	0.00966525693941432	0.106
18	67802516	A	G	18	70135280	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.T2789C:p.V930A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2789C:p.V930A;ENSG00000176225:ENST00000255674:exon22:c.T2789C:p.V930A;	0.00163731004851227	0.022
18	67802516	A	T	18	70135280	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon22:c.T2789A:p.V930D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon22:c.T2789A:p.V930D;ENSG00000176225:ENST00000255674:exon22:c.T2789A:p.V930D;	0.0186540817747666	0.164
18	67802517	C	A	18	70135281	y	y	splicing	RTTN(NM_173630:exon23:c.2789-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2789-1G>T;ENST00000583043:exon17:c.2070-1G>T;ENST00000454359:exon22:c.2700-1G>T;ENST00000581161:exon22:c.2606-1G>T;ENST00000437017:exon23:c.2789-1G>T)	.	.	0.99996748057446	0.89
18	67802517	C	G	18	70135281	y	y	splicing	RTTN(NM_173630:exon23:c.2789-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2789-1G>C;ENST00000583043:exon17:c.2070-1G>C;ENST00000454359:exon22:c.2700-1G>C;ENST00000581161:exon22:c.2606-1G>C;ENST00000437017:exon23:c.2789-1G>C)	.	.	0.99996748057446	0.886
18	67802517	C	T	18	70135281	y	y	splicing	RTTN(NM_173630:exon23:c.2789-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2789-1G>A;ENST00000583043:exon17:c.2070-1G>A;ENST00000454359:exon22:c.2700-1G>A;ENST00000581161:exon22:c.2606-1G>A;ENST00000437017:exon23:c.2789-1G>A)	.	.	0.99996748057446	0.888
18	67802518	T	A	18	70135282	y	y	splicing	RTTN(NM_173630:exon23:c.2789-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2789-2A>T;ENST00000583043:exon17:c.2070-2A>T;ENST00000454359:exon22:c.2700-2A>T;ENST00000581161:exon22:c.2606-2A>T;ENST00000437017:exon23:c.2789-2A>T)	.	.	0.999972871252391	0.876
18	67802518	T	C	18	70135282	y	y	splicing	RTTN(NM_173630:exon23:c.2789-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2789-2A>G;ENST00000583043:exon17:c.2070-2A>G;ENST00000454359:exon22:c.2700-2A>G;ENST00000581161:exon22:c.2606-2A>G;ENST00000437017:exon23:c.2789-2A>G)	.	.	0.999969255906173	0.864
18	67802518	T	G	18	70135282	y	y	splicing	RTTN(NM_173630:exon23:c.2789-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon23:c.2789-2A>C;ENST00000583043:exon17:c.2070-2A>C;ENST00000454359:exon22:c.2700-2A>C;ENST00000581161:exon22:c.2606-2A>C;ENST00000437017:exon23:c.2789-2A>C)	.	.	0.999969255906173	0.868
18	67802519	G	A	18	70135283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.43623264163769E-4	0.004
18	67802519	G	C	18	70135283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99582512696473	0.7
18	67802519	G	T	18	70135283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.134162140206134	0.38
18	67802520	A	C	18	70135284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.22106643232635E-5	0.008
18	67802520	A	G	18	70135284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.2776151431284E-5	0.006
18	67802520	A	T	18	70135284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.14826546088565E-5	0.0
18	67802521	A	C	18	70135285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999590268698429	0.72
18	67802521	A	G	18	70135285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.00202968917324E-5	0.01
18	67802521	A	T	18	70135285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.80518918574952E-4	0.148
18	67802522	T	A	18	70135286	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.19095285164297E-5	0.022
18	67802522	T	C	18	70135286	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.74863738336146E-5	0.004
18	67802522	T	G	18	70135286	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.13077355385631E-5	0.014
18	67802523	A	C	18	70135287	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.69145956276553E-5	0.012
18	67802523	A	G	18	70135287	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.07901792310811E-5	0.004
18	67802523	A	T	18	70135287	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.95213336018185E-4	0.016
18	67802524	A	C	18	70135288	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.74280040869658E-5	0.06
18	67802524	A	G	18	70135288	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.22469057648587E-6	0.0
18	67802524	A	T	18	70135288	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.22083488281977E-4	0.04
18	67802525	A	C	18	70135289	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.96852447324974E-4	0.116
18	67802525	A	G	18	70135289	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.64226641636351E-5	0.018
18	67802525	A	T	18	70135289	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00142816244363728	0.126
18	67802526	A	C	18	70135290	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00639743273555337	0.26
18	67802526	A	G	18	70135290	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.25893955760977E-4	0.044
18	67802526	A	T	18	70135290	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00852924146587033	0.268
18	67802527	A	C	18	70135291	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00152295887721368	0.166
18	67802527	A	G	18	70135291	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.88297888040011E-4	0.044
18	67802527	A	T	18	70135291	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00178040522140464	0.17
18	67802528	G	A	18	70135292	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.28657535384594E-5	0.022
18	67802528	G	C	18	70135292	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.71209064213477E-5	0.014
18	67802528	G	T	18	70135292	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.08596818309924E-4	0.054
18	67806827	T	A	18	70139591	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.5221186588145E-5	0.0
18	67806827	T	C	18	70139591	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.72144858739103E-5	0.002
18	67806827	T	G	18	70139591	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.72144858739103E-5	0.002
18	67806828	T	A	18	70139592	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.61320973081844E-4	0.026
18	67806828	T	C	18	70139592	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.92124190959365E-5	0.006
18	67806828	T	G	18	70139592	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.41021194110853E-5	0.0
18	67806829	A	C	18	70139593	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00247283955606938	0.186
18	67806829	A	G	18	70139593	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0421649751827589	0.28
18	67806829	A	T	18	70139593	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0234322503109256	0.182
18	67806830	T	A	18	70139594	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.23034204450415E-5	0.006
18	67806830	T	C	18	70139594	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.65715473790602E-5	0.024
18	67806830	T	G	18	70139594	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.07030797893664E-5	0.018
18	67806831	T	A	18	70139595	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.142611688526453	0.448
18	67806831	T	C	18	70139595	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.245555524090583	0.482
18	67806831	T	G	18	70139595	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.132795354904157	0.422
18	67806832	T	A	18	70139596	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.985166136125428	0.61
18	67806832	T	C	18	70139596	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.131657455195833	0.438
18	67806832	T	G	18	70139596	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.992491734242749	0.658
18	67806833	A	C	18	70139597	y	y	splicing	RTTN(NM_173630:exon22:c.2788+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2788+2T>G;ENST00000583043:exon16:c.2069+2T>G;ENST00000454359:exon21:c.2699+2T>G;ENST00000581161:exon21:c.2605+2T>G;ENST00000437017:exon22:c.2788+2T>G)	.	.	0.999969255906173	0.836
18	67806833	A	G	18	70139597	y	y	splicing	RTTN(NM_173630:exon22:c.2788+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2788+2T>C;ENST00000583043:exon16:c.2069+2T>C;ENST00000454359:exon21:c.2699+2T>C;ENST00000581161:exon21:c.2605+2T>C;ENST00000437017:exon22:c.2788+2T>C)	.	.	0.930012405872808	0.558
18	67806833	A	T	18	70139597	y	y	splicing	RTTN(NM_173630:exon22:c.2788+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2788+2T>A;ENST00000583043:exon16:c.2069+2T>A;ENST00000454359:exon21:c.2699+2T>A;ENST00000581161:exon21:c.2605+2T>A;ENST00000437017:exon22:c.2788+2T>A)	.	.	0.999972155025474	0.866
18	67806834	C	A	18	70139598	y	y	splicing	RTTN(NM_173630:exon22:c.2788+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2788+1G>T;ENST00000583043:exon16:c.2069+1G>T;ENST00000454359:exon21:c.2699+1G>T;ENST00000581161:exon21:c.2605+1G>T;ENST00000437017:exon22:c.2788+1G>T)	.	.	0.999956785519844	0.884
18	67806834	C	G	18	70139598	y	y	splicing	RTTN(NM_173630:exon22:c.2788+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2788+1G>C;ENST00000583043:exon16:c.2069+1G>C;ENST00000454359:exon21:c.2699+1G>C;ENST00000581161:exon21:c.2605+1G>C;ENST00000437017:exon22:c.2788+1G>C)	.	.	0.999952286258862	0.876
18	67806834	C	T	18	70139598	y	y	splicing	RTTN(NM_173630:exon22:c.2788+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2788+1G>A;ENST00000583043:exon16:c.2069+1G>A;ENST00000454359:exon21:c.2699+1G>A;ENST00000581161:exon21:c.2605+1G>A;ENST00000437017:exon22:c.2788+1G>A)	.	.	0.999956785519844	0.864
18	67806835	C	A	18	70139599	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2788T:p.V930F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2788T:p.V930F;ENSG00000176225:ENST00000255674:exon21:c.G2788T:p.V930F;	0.999648885012926	0.964
18	67806835	C	G	18	70139599	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2788C:p.V930L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2788C:p.V930L;ENSG00000176225:ENST00000255674:exon21:c.G2788C:p.V930L;	0.999990190111931	0.998
18	67806835	C	T	18	70139599	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2788A:p.V930I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2788A:p.V930I;ENSG00000176225:ENST00000255674:exon21:c.G2788A:p.V930I;	0.999226517951002	0.992
18	67806836	T	A	18	70139600	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.A2787T:p.R929S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.A2787T:p.R929S;ENSG00000176225:ENST00000255674:exon21:c.A2787T:p.R929S;	0.998423410671638	0.96
18	67806836	T	C	18	70139600	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon21:c.A2787G:p.R929R;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.A2787G:p.R929R;ENSG00000176225:ENST00000255674:exon21:c.A2787G:p.R929R;	0.943382707773989	0.61
18	67806836	T	G	18	70139600	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.A2787C:p.R929S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.A2787C:p.R929S;ENSG00000176225:ENST00000255674:exon21:c.A2787C:p.R929S;	0.989377723690464	0.856
18	67806837	C	A	18	70139601	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2786T:p.R929I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2786T:p.R929I;ENSG00000176225:ENST00000255674:exon21:c.G2786T:p.R929I;	0.958290061612222	0.668
18	67806837	C	G	18	70139601	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2786C:p.R929T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2786C:p.R929T;ENSG00000176225:ENST00000255674:exon21:c.G2786C:p.R929T;	0.518452776069174	0.462
18	67806837	C	T	18	70139601	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2786A:p.R929K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2786A:p.R929K;ENSG00000176225:ENST00000255674:exon21:c.G2786A:p.R929K;	0.928447841268396	0.722
18	67806951	A	C	18	70139715	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.T2672G:p.V891G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.T2672G:p.V891G;ENSG00000176225:ENST00000255674:exon21:c.T2672G:p.V891G;	0.00303167912197329	0.116
18	67806951	A	G	18	70139715	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.T2672C:p.V891A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.T2672C:p.V891A;ENSG00000176225:ENST00000255674:exon21:c.T2672C:p.V891A;	0.00143282329014014	0.138
18	67806951	A	T	18	70139715	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.T2672A:p.V891D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.T2672A:p.V891D;ENSG00000176225:ENST00000255674:exon21:c.T2672A:p.V891D;	0.00205995606379411	0.07
18	67806952	C	A	18	70139716	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2671T:p.V891F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2671T:p.V891F;ENSG00000176225:ENST00000583043:exon15:c.G1952T:p.G651V;ENSG00000176225:ENST00000255674:exon21:c.G2671T:p.V891F;ENSG00000176225:ENST00000454359:exon20:c.G2582T:p.G861V;	0.210187863155951	0.478
18	67806952	C	G	18	70139716	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2671C:p.V891L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2671C:p.V891L;ENSG00000176225:ENST00000583043:exon15:c.G1952C:p.G651A;ENSG00000176225:ENST00000255674:exon21:c.G2671C:p.V891L;ENSG00000176225:ENST00000454359:exon20:c.G2582C:p.G861A;	0.0708261447196804	0.46
18	67806952	C	T	18	70139716	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon21:c.G2671A:p.V891I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon21:c.G2671A:p.V891I;ENSG00000176225:ENST00000583043:exon15:c.G1952A:p.G651D;ENSG00000176225:ENST00000255674:exon21:c.G2671A:p.V891I;ENSG00000176225:ENST00000454359:exon20:c.G2582A:p.G861D;	0.00571889485150773	0.248
18	67806953	C	A	18	70139717	y	y	splicing	RTTN(NM_173630:exon22:c.2671-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2671-1G>T;ENST00000583043:exon16:c.1952-1G>T;ENST00000454359:exon21:c.2582-1G>T;ENST00000581161:exon21:c.2488-1G>T;ENST00000437017:exon22:c.2671-1G>T)	.	.	0.999954822925581	0.862
18	67806953	C	G	18	70139717	y	y	splicing	RTTN(NM_173630:exon22:c.2671-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2671-1G>C;ENST00000583043:exon16:c.1952-1G>C;ENST00000454359:exon21:c.2582-1G>C;ENST00000581161:exon21:c.2488-1G>C;ENST00000437017:exon22:c.2671-1G>C)	.	.	0.999954822925581	0.828
18	67806953	C	T	18	70139717	y	y	splicing	RTTN(NM_173630:exon22:c.2671-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2671-1G>A;ENST00000583043:exon16:c.1952-1G>A;ENST00000454359:exon21:c.2582-1G>A;ENST00000581161:exon21:c.2488-1G>A;ENST00000437017:exon22:c.2671-1G>A)	.	.	0.999963060725914	0.872
18	67806954	T	A	18	70139718	y	y	splicing	RTTN(NM_173630:exon22:c.2671-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2671-2A>T;ENST00000583043:exon16:c.1952-2A>T;ENST00000454359:exon21:c.2582-2A>T;ENST00000581161:exon21:c.2488-2A>T;ENST00000437017:exon22:c.2671-2A>T)	.	.	0.999970890420065	0.856
18	67806954	T	C	18	70139718	y	y	splicing	RTTN(NM_173630:exon22:c.2671-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2671-2A>G;ENST00000583043:exon16:c.1952-2A>G;ENST00000454359:exon21:c.2582-2A>G;ENST00000581161:exon21:c.2488-2A>G;ENST00000437017:exon22:c.2671-2A>G)	.	.	0.999970890420065	0.814
18	67806954	T	G	18	70139718	y	y	splicing	RTTN(NM_173630:exon22:c.2671-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon22:c.2671-2A>C;ENST00000583043:exon16:c.1952-2A>C;ENST00000454359:exon21:c.2582-2A>C;ENST00000581161:exon21:c.2488-2A>C;ENST00000437017:exon22:c.2671-2A>C)	.	.	0.999970890420065	0.814
18	67806955	G	A	18	70139719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00281320254350087	0.36
18	67806955	G	C	18	70139719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997074585643191	0.826
18	67806955	G	T	18	70139719	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.968263781028696	0.74
18	67806956	G	A	18	70139720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.51965981708353E-5	0.0
18	67806956	G	C	18	70139720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.87161455599928E-5	0.0
18	67806956	G	T	18	70139720	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.51965981708353E-5	0.002
18	67806957	G	A	18	70139721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.41591345499363E-5	0.0
18	67806957	G	C	18	70139721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.09183778642585E-4	0.058
18	67806957	G	T	18	70139721	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.06659391433256E-4	0.024
18	67806958	C	A	18	70139722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.81122185803124E-5	0.0
18	67806958	C	G	18	70139722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.80308135233369E-5	0.0
18	67806958	C	T	18	70139722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.71999640439313E-5	0.002
18	67806959	C	A	18	70139723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.97861061478439E-5	0.004
18	67806959	C	G	18	70139723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.8324874129391E-5	0.004
18	67806959	C	T	18	70139723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998678434668603	1.0
18	67806960	A	C	18	70139724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00114988518971647	0.064
18	67806960	A	G	18	70139724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.46256134041575E-6	0.002
18	67806960	A	T	18	70139724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.991487567773371	0.878
18	67806961	G	A	18	70139725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.6757590232517E-4	0.004
18	67806961	G	C	18	70139725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00171647431784254	0.1
18	67806961	G	T	18	70139725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00171710836576984	0.068
18	67806962	G	A	18	70139726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.21507142678626E-5	0.0
18	67806962	G	C	18	70139726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.94158030888437E-4	0.058
18	67806962	G	T	18	70139726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.15013669822968E-4	0.008
18	67806963	A	C	18	70139727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.177492157751168	0.52
18	67806963	A	G	18	70139727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00195523850977209	0.118
18	67806963	A	T	18	70139727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.639277665468916	0.52
18	67806964	G	A	18	70139728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.08413005694362E-5	0.0
18	67806964	G	C	18	70139728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.42078228532222E-5	0.014
18	67806964	G	T	18	70139728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.27325862861986E-5	0.006
18	67807328	A	C	18	70140092	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.74445165352298E-5	0.0
18	67807328	A	G	18	70140092	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.90028566392549E-5	0.0
18	67807328	A	T	18	70140092	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.74445165352298E-5	0.0
18	67807329	G	A	18	70140093	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.34286128546387E-5	0.002
18	67807329	G	C	18	70140093	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.62613394341377E-5	0.0
18	67807329	G	T	18	70140093	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.28877913676269E-5	0.002
18	67807330	C	A	18	70140094	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.36872976877809E-5	0.0
18	67807330	C	G	18	70140094	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.98163458267061E-5	0.0
18	67807330	C	T	18	70140094	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.77149082397229E-5	0.0
18	67807331	C	A	18	70140095	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.778938981963567	0.54
18	67807331	C	G	18	70140095	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.401655658547306	0.524
18	67807331	C	T	18	70140095	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.844979012193536	0.574
18	67807332	T	A	18	70140096	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.378281666770862	0.54
18	67807332	T	C	18	70140096	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.59203327539107	0.434
18	67807332	T	G	18	70140096	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.162712778852519	0.514
18	67807333	T	A	18	70140097	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.962331175026401	0.516
18	67807333	T	C	18	70140097	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00162049782038401	0.092
18	67807333	T	G	18	70140097	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.983325329028888	0.598
18	67807334	A	C	18	70140098	y	y	splicing	RTTN(NM_173630:exon21:c.2670+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2670+2T>G;ENST00000437017:exon21:c.2670+2T>G)	.	.	0.999989917668626	0.926
18	67807334	A	G	18	70140098	y	y	splicing	RTTN(NM_173630:exon21:c.2670+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2670+2T>C;ENST00000437017:exon21:c.2670+2T>C)	.	.	0.988809971481602	0.614
18	67807334	A	T	18	70140098	y	y	splicing	RTTN(NM_173630:exon21:c.2670+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2670+2T>A;ENST00000437017:exon21:c.2670+2T>A)	.	.	0.999989917668626	0.926
18	67807335	C	A	18	70140099	y	y	splicing	RTTN(NM_173630:exon21:c.2670+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2670+1G>T;ENST00000437017:exon21:c.2670+1G>T)	.	.	0.999981760802075	0.936
18	67807335	C	G	18	70140099	y	y	splicing	RTTN(NM_173630:exon21:c.2670+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2670+1G>C;ENST00000437017:exon21:c.2670+1G>C)	.	.	0.999981760802075	0.936
18	67807335	C	T	18	70140099	y	y	splicing	RTTN(NM_173630:exon21:c.2670+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2670+1G>A;ENST00000437017:exon21:c.2670+1G>A)	.	.	0.999981760802075	0.936
18	67807336	C	A	18	70140100	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.G2670T:p.K890N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.G2670T:p.K890N;ENSG00000176225:ENST00000255674:exon20:c.G2670T:p.K890N;	0.999073030760211	0.902
18	67807336	C	G	18	70140100	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.G2670C:p.K890N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.G2670C:p.K890N;ENSG00000176225:ENST00000255674:exon20:c.G2670C:p.K890N;	0.999514315004696	0.878
18	67807336	C	T	18	70140100	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon20:c.G2670A:p.K890K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.G2670A:p.K890K;ENSG00000176225:ENST00000255674:exon20:c.G2670A:p.K890K;	0.991710262155999	0.934
18	67807337	T	A	18	70140101	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.A2669T:p.K890M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.A2669T:p.K890M;ENSG00000176225:ENST00000255674:exon20:c.A2669T:p.K890M;	0.992027599923251	0.638
18	67807337	T	C	18	70140101	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.A2669G:p.K890R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.A2669G:p.K890R;ENSG00000176225:ENST00000255674:exon20:c.A2669G:p.K890R;	0.977007121716307	0.766
18	67807337	T	G	18	70140101	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.A2669C:p.K890T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.A2669C:p.K890T;ENSG00000176225:ENST00000255674:exon20:c.A2669C:p.K890T;	0.980168458389659	0.886
18	67807338	T	A	18	70140102	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon20:c.A2668T:p.K890X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon20:c.A2668T:p.K890X;ENSG00000176225:ENST00000255674:exon20:c.A2668T:p.K890X;	0.00382120671984808	0.352
18	67807338	T	C	18	70140102	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.A2668G:p.K890E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.A2668G:p.K890E;ENSG00000176225:ENST00000255674:exon20:c.A2668G:p.K890E;	5.39899354198316E-5	0.002
18	67807338	T	G	18	70140102	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.A2668C:p.K890Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.A2668C:p.K890Q;ENSG00000176225:ENST00000255674:exon20:c.A2668C:p.K890Q;	9.42306213420489E-5	0.002
18	67807423	A	C	18	70140187	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.T2583G:p.D861E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.T2583G:p.D861E;ENSG00000176225:ENST00000255674:exon20:c.T2583G:p.D861E;	0.001916076910227	0.068
18	67807423	A	G	18	70140187	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon20:c.T2583C:p.D861D;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.T2583C:p.D861D;ENSG00000176225:ENST00000255674:exon20:c.T2583C:p.D861D;	4.93065098998373E-4	0.038
18	67807423	A	T	18	70140187	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.T2583A:p.D861E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.T2583A:p.D861E;ENSG00000176225:ENST00000255674:exon20:c.T2583A:p.D861E;	0.00323311715162026	0.056
18	67807424	T	A	18	70140188	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.A2582T:p.D861V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.A2582T:p.D861V;ENSG00000176225:ENST00000255674:exon20:c.A2582T:p.D861V;	0.350401909449023	0.544
18	67807424	T	C	18	70140188	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.A2582G:p.D861G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.A2582G:p.D861G;ENSG00000176225:ENST00000255674:exon20:c.A2582G:p.D861G;	0.417109706294363	0.62
18	67807424	T	G	18	70140188	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon20:c.A2582C:p.D861A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon20:c.A2582C:p.D861A;ENSG00000176225:ENST00000255674:exon20:c.A2582C:p.D861A;	0.221482317299476	0.594
18	67807425	C	A	18	70140189	y	y	splicing	RTTN(NM_173630:exon21:c.2582-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2582-1G>T;ENST00000437017:exon21:c.2582-1G>T)	.	.	0.999967335026411	0.93
18	67807425	C	G	18	70140189	y	y	splicing	RTTN(NM_173630:exon21:c.2582-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2582-1G>C;ENST00000437017:exon21:c.2582-1G>C)	.	.	0.999915710762489	0.93
18	67807425	C	T	18	70140189	y	y	splicing	RTTN(NM_173630:exon21:c.2582-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2582-1G>A;ENST00000437017:exon21:c.2582-1G>A)	.	.	0.999967335026411	0.936
18	67807426	T	A	18	70140190	y	y	splicing	RTTN(NM_173630:exon21:c.2582-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2582-2A>T;ENST00000437017:exon21:c.2582-2A>T)	.	.	0.999966203349492	0.93
18	67807426	T	C	18	70140190	y	y	splicing	RTTN(NM_173630:exon21:c.2582-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2582-2A>G;ENST00000437017:exon21:c.2582-2A>G)	.	.	0.999966203349492	0.94
18	67807426	T	G	18	70140190	y	y	splicing	RTTN(NM_173630:exon21:c.2582-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon21:c.2582-2A>C;ENST00000437017:exon21:c.2582-2A>C)	.	.	0.999966203349492	0.94
18	67807427	G	A	18	70140191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00126828011297222	0.02
18	67807427	G	C	18	70140191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999946735654086	0.936
18	67807427	G	T	18	70140191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.958431279112192	0.508
18	67807428	T	A	18	70140192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.3959743919154E-5	0.006
18	67807428	T	C	18	70140192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.46624953772093E-5	0.0
18	67807428	T	G	18	70140192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.84650817110613E-5	0.0
18	67807429	A	C	18	70140193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.01858530804264E-5	0.164
18	67807429	A	G	18	70140193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.37302495822104E-5	0.018
18	67807429	A	T	18	70140193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.86720910360333E-4	0.192
18	67807430	G	A	18	70140194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.94229383066058E-5	0.008
18	67807430	G	C	18	70140194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00106694631197187	0.106
18	67807430	G	T	18	70140194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0012970377692716	0.072
18	67807431	A	C	18	70140195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999697591139316	0.97
18	67807431	A	G	18	70140195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.32292919592847E-5	0.018
18	67807431	A	T	18	70140195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00262073756501985	0.104
18	67807432	T	A	18	70140196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.8917931190308E-6	0.0
18	67807432	T	C	18	70140196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.63006208876046E-5	0.0
18	67807432	T	G	18	70140196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.23714592378343E-6	0.0
18	67807433	A	C	18	70140197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.59245919487468E-4	0.04
18	67807433	A	G	18	70140197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.80589057721042E-5	0.0
18	67807433	A	T	18	70140197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.60736069166613E-4	0.02
18	67807434	A	C	18	70140198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.25649891045683E-4	0.026
18	67807434	A	G	18	70140198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.55673031486908E-5	0.004
18	67807434	A	T	18	70140198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.5613316242391E-4	0.024
18	67807435	A	C	18	70140199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.74806413758833E-4	0.058
18	67807435	A	G	18	70140199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.17167889506743E-5	0.008
18	67807435	A	T	18	70140199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.65302810461811E-4	0.082
18	67807436	A	C	18	70140200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00177973532851487	0.238
18	67807436	A	G	18	70140200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.69178140136994E-4	0.04
18	67807436	A	T	18	70140200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00324651543109226	0.288
18	67809516	G	A	18	70142280	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.51290618449768E-5	0.0
18	67809516	G	C	18	70142280	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.38067689797264E-5	0.0
18	67809516	G	T	18	70142280	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.38067689797264E-5	0.0
18	67809517	A	C	18	70142281	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99769738680469E-5	0.0
18	67809517	A	G	18	70142281	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99769738680469E-5	0.0
18	67809517	A	T	18	70142281	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.99769738680469E-5	0.0
18	67809518	C	A	18	70142282	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.9155086702121E-5	0.0
18	67809518	C	G	18	70142282	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.92004418719101E-5	0.162
18	67809518	C	T	18	70142282	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.77714875001818E-5	0.018
18	67809519	A	C	18	70142283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00137931544793762	0.13
18	67809519	A	G	18	70142283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.14057885902778E-4	0.01
18	67809519	A	T	18	70142283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.32632176057903E-4	0.004
18	67809520	T	A	18	70142284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.164024944863837	0.448
18	67809520	T	C	18	70142284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.894224811593914	0.548
18	67809520	T	G	18	70142284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0470043637995397	0.372
18	67809521	T	A	18	70142285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99975485121198	0.966
18	67809521	T	C	18	70142285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.969057288871927	0.78
18	67809521	T	G	18	70142285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999889754754193	0.972
18	67809522	A	C	18	70142286	y	y	splicing	RTTN(NM_173630:exon20:c.2581+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2581+2T>G;ENST00000583043:exon15:c.1951+2T>G;ENST00000454359:exon20:c.2581+2T>G;ENST00000581161:exon20:c.2487+2T>G;ENST00000437017:exon20:c.2581+2T>G)	.	.	0.999993519952936	0.924
18	67809522	A	G	18	70142286	y	y	splicing	RTTN(NM_173630:exon20:c.2581+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2581+2T>C;ENST00000583043:exon15:c.1951+2T>C;ENST00000454359:exon20:c.2581+2T>C;ENST00000581161:exon20:c.2487+2T>C;ENST00000437017:exon20:c.2581+2T>C)	.	.	0.989490785358834	0.592
18	67809522	A	T	18	70142286	y	y	splicing	RTTN(NM_173630:exon20:c.2581+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2581+2T>A;ENST00000583043:exon15:c.1951+2T>A;ENST00000454359:exon20:c.2581+2T>A;ENST00000581161:exon20:c.2487+2T>A;ENST00000437017:exon20:c.2581+2T>A)	.	.	0.999993519952936	0.924
18	67809523	C	A	18	70142287	y	y	splicing	RTTN(NM_173630:exon20:c.2581+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2581+1G>T;ENST00000583043:exon15:c.1951+1G>T;ENST00000454359:exon20:c.2581+1G>T;ENST00000581161:exon20:c.2487+1G>T;ENST00000437017:exon20:c.2581+1G>T)	.	.	0.999988247793601	0.928
18	67809523	C	G	18	70142287	y	y	splicing	RTTN(NM_173630:exon20:c.2581+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2581+1G>C;ENST00000583043:exon15:c.1951+1G>C;ENST00000454359:exon20:c.2581+1G>C;ENST00000581161:exon20:c.2487+1G>C;ENST00000437017:exon20:c.2581+1G>C)	.	.	0.999988247793601	0.928
18	67809523	C	T	18	70142287	y	y	splicing	RTTN(NM_173630:exon20:c.2581+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2581+1G>A;ENST00000583043:exon15:c.1951+1G>A;ENST00000454359:exon20:c.2581+1G>A;ENST00000581161:exon20:c.2487+1G>A;ENST00000437017:exon20:c.2581+1G>A)	.	.	0.999988247793601	0.928
18	67809524	C	A	18	70142288	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.G2581T:p.D861Y;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.G2581T:p.D861Y;ENSG00000176225:ENST00000583043:exon14:c.G1951T:p.G651C;ENSG00000176225:ENST00000255674:exon19:c.G2581T:p.D861Y;ENSG00000176225:ENST00000454359:exon19:c.G2581T:p.G861C;	0.999991926426842	0.998
18	67809524	C	G	18	70142288	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.G2581C:p.D861H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.G2581C:p.D861H;ENSG00000176225:ENST00000583043:exon14:c.G1951C:p.G651R;ENSG00000176225:ENST00000255674:exon19:c.G2581C:p.D861H;ENSG00000176225:ENST00000454359:exon19:c.G2581C:p.G861R;	0.999996488128707	1.0
18	67809524	C	T	18	70142288	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.G2581A:p.D861N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.G2581A:p.D861N;ENSG00000176225:ENST00000583043:exon14:c.G1951A:p.G651S;ENSG00000176225:ENST00000255674:exon19:c.G2581A:p.D861N;ENSG00000176225:ENST00000454359:exon19:c.G2581A:p.G861S;	0.99999542008046	1.0
18	67809525	T	A	18	70142289	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.A2580T:p.Q860H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.A2580T:p.Q860H;ENSG00000176225:ENST00000583043:exon14:c.A1950T:p.Q650H;ENSG00000176225:ENST00000255674:exon19:c.A2580T:p.Q860H;ENSG00000176225:ENST00000454359:exon19:c.A2580T:p.Q860H;	0.999903290703521	0.996
18	67809525	T	C	18	70142289	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon19:c.A2580G:p.Q860Q;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.A2580G:p.Q860Q;ENSG00000176225:ENST00000583043:exon14:c.A1950G:p.Q650Q;ENSG00000176225:ENST00000255674:exon19:c.A2580G:p.Q860Q;ENSG00000176225:ENST00000454359:exon19:c.A2580G:p.Q860Q;	0.990902471433211	0.768
18	67809525	T	G	18	70142289	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.A2580C:p.Q860H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.A2580C:p.Q860H;ENSG00000176225:ENST00000583043:exon14:c.A1950C:p.Q650H;ENSG00000176225:ENST00000255674:exon19:c.A2580C:p.Q860H;ENSG00000176225:ENST00000454359:exon19:c.A2580C:p.Q860H;	0.998807669713103	0.954
18	67809526	T	A	18	70142290	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.A2579T:p.Q860L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.A2579T:p.Q860L;ENSG00000176225:ENST00000583043:exon14:c.A1949T:p.Q650L;ENSG00000176225:ENST00000255674:exon19:c.A2579T:p.Q860L;ENSG00000176225:ENST00000454359:exon19:c.A2579T:p.Q860L;	0.966852637613333	0.666
18	67809526	T	C	18	70142290	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.A2579G:p.Q860R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.A2579G:p.Q860R;ENSG00000176225:ENST00000583043:exon14:c.A1949G:p.Q650R;ENSG00000176225:ENST00000255674:exon19:c.A2579G:p.Q860R;ENSG00000176225:ENST00000454359:exon19:c.A2579G:p.Q860R;	0.0702783590493631	0.298
18	67809526	T	G	18	70142290	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.A2579C:p.Q860P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.A2579C:p.Q860P;ENSG00000176225:ENST00000583043:exon14:c.A1949C:p.Q650P;ENSG00000176225:ENST00000255674:exon19:c.A2579C:p.Q860P;ENSG00000176225:ENST00000454359:exon19:c.A2579C:p.Q860P;	0.527758439271555	0.712
18	67809622	A	C	18	70142386	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.T2483G:p.L828W;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.T2483G:p.L828W;ENSG00000176225:ENST00000583043:exon14:c.T1853G:p.L618W;ENSG00000176225:ENST00000255674:exon19:c.T2483G:p.L828W;ENSG00000176225:ENST00000454359:exon19:c.T2483G:p.L828W;	2.04770910399727E-4	0.058
18	67809622	A	G	18	70142386	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.T2483C:p.L828S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.T2483C:p.L828S;ENSG00000176225:ENST00000583043:exon14:c.T1853C:p.L618S;ENSG00000176225:ENST00000255674:exon19:c.T2483C:p.L828S;ENSG00000176225:ENST00000454359:exon19:c.T2483C:p.L828S;	5.78606956474869E-5	0.01
18	67809622	A	T	18	70142386	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon19:c.T2483A:p.L828X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon19:c.T2483A:p.L828X;ENSG00000176225:ENST00000583043:exon14:c.T1853A:p.L618X;ENSG00000176225:ENST00000255674:exon19:c.T2483A:p.L828X;ENSG00000176225:ENST00000454359:exon19:c.T2483A:p.L828X;	2.46958155980695E-4	0.336
18	67809623	A	C	18	70142387	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.T2482G:p.L828V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.T2482G:p.L828V;ENSG00000176225:ENST00000583043:exon14:c.T1852G:p.L618V;ENSG00000176225:ENST00000255674:exon19:c.T2482G:p.L828V;ENSG00000176225:ENST00000454359:exon19:c.T2482G:p.L828V;	6.71136020978752E-5	0.132
18	67809623	A	G	18	70142387	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon19:c.T2482C:p.L828L;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.T2482C:p.L828L;ENSG00000176225:ENST00000583043:exon14:c.T1852C:p.L618L;ENSG00000176225:ENST00000255674:exon19:c.T2482C:p.L828L;ENSG00000176225:ENST00000454359:exon19:c.T2482C:p.L828L;	7.07747561310549E-5	0.006
18	67809623	A	T	18	70142387	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon19:c.T2482A:p.L828M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon19:c.T2482A:p.L828M;ENSG00000176225:ENST00000583043:exon14:c.T1852A:p.L618M;ENSG00000176225:ENST00000255674:exon19:c.T2482A:p.L828M;ENSG00000176225:ENST00000454359:exon19:c.T2482A:p.L828M;	1.91162662516079E-4	0.076
18	67809624	C	A	18	70142388	y	y	splicing	RTTN(NM_173630:exon20:c.2482-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2482-1G>T;ENST00000583043:exon15:c.1852-1G>T;ENST00000454359:exon20:c.2482-1G>T;ENST00000581161:exon20:c.2388-1G>T;ENST00000437017:exon20:c.2482-1G>T)	.	.	0.999988247793601	0.928
18	67809624	C	G	18	70142388	y	y	splicing	RTTN(NM_173630:exon20:c.2482-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2482-1G>C;ENST00000583043:exon15:c.1852-1G>C;ENST00000454359:exon20:c.2482-1G>C;ENST00000581161:exon20:c.2388-1G>C;ENST00000437017:exon20:c.2482-1G>C)	.	.	0.999988247793601	0.928
18	67809624	C	T	18	70142388	y	y	splicing	RTTN(NM_173630:exon20:c.2482-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2482-1G>A;ENST00000583043:exon15:c.1852-1G>A;ENST00000454359:exon20:c.2482-1G>A;ENST00000581161:exon20:c.2388-1G>A;ENST00000437017:exon20:c.2482-1G>A)	.	.	0.999988247793601	0.928
18	67809625	T	A	18	70142389	y	y	splicing	RTTN(NM_173630:exon20:c.2482-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2482-2A>T;ENST00000583043:exon15:c.1852-2A>T;ENST00000454359:exon20:c.2482-2A>T;ENST00000581161:exon20:c.2388-2A>T;ENST00000437017:exon20:c.2482-2A>T)	.	.	0.999993519952936	0.924
18	67809625	T	C	18	70142389	y	y	splicing	RTTN(NM_173630:exon20:c.2482-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2482-2A>G;ENST00000583043:exon15:c.1852-2A>G;ENST00000454359:exon20:c.2482-2A>G;ENST00000581161:exon20:c.2388-2A>G;ENST00000437017:exon20:c.2482-2A>G)	.	.	0.999991582404039	0.926
18	67809625	T	G	18	70142389	y	y	splicing	RTTN(NM_173630:exon20:c.2482-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon20:c.2482-2A>C;ENST00000583043:exon15:c.1852-2A>C;ENST00000454359:exon20:c.2482-2A>C;ENST00000581161:exon20:c.2388-2A>C;ENST00000437017:exon20:c.2482-2A>C)	.	.	0.999991582404039	0.926
18	67809626	A	C	18	70142390	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.78875755894817	0.574
18	67809626	A	G	18	70142390	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.40502570615422E-5	0.022
18	67809626	A	T	18	70142390	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00196469758976291	0.146
18	67809627	C	A	18	70142391	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.93338962959172E-4	0.0
18	67809627	C	G	18	70142391	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.188494010324E-5	0.002
18	67809627	C	T	18	70142391	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.31094005556738E-4	0.0
18	67809628	A	C	18	70142392	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.586062963682477	0.65
18	67809628	A	G	18	70142392	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0253794168551694	0.108
18	67809628	A	T	18	70142392	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999741236388396	0.87
18	67809629	A	C	18	70142393	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.129953243956935	0.382
18	67809629	A	G	18	70142393	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.13590131564513E-4	0.022
18	67809629	A	T	18	70142393	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.330026970069892	0.558
18	67809630	A	C	18	70142394	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.026221366777434	0.178
18	67809630	A	G	18	70142394	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.9857825513971E-4	0.016
18	67809630	A	T	18	70142394	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00927506292201105	0.21
18	67809631	C	A	18	70142395	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.77899518636186E-5	0.008
18	67809631	C	G	18	70142395	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.9208494964368E-5	0.002
18	67809631	C	T	18	70142395	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.2709332397549E-4	0.006
18	67809632	C	A	18	70142396	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.02880873087799E-4	0.004
18	67809632	C	G	18	70142396	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.98430075440657E-4	0.012
18	67809632	C	T	18	70142396	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997047486962306	0.932
18	67809633	A	C	18	70142397	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.652421815039236	0.482
18	67809633	A	G	18	70142397	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00412485556357398	0.044
18	67809633	A	T	18	70142397	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999707195442012	0.91
18	67809634	A	C	18	70142398	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.472797498575671	0.45
18	67809634	A	G	18	70142398	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0447051246948416	0.174
18	67809634	A	T	18	70142398	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.877635976593499	0.562
18	67809635	A	C	18	70142399	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0969064488855294	0.258
18	67809635	A	G	18	70142399	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.32250629122841E-5	0.026
18	67809635	A	T	18	70142399	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.124585712609845	0.324
18	67812840	A	C	18	70145604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.37647332377685E-5	0.004
18	67812840	A	G	18	70145604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.31453178370743E-5	0.0
18	67812840	A	T	18	70145604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.46535800631387E-5	0.0
18	67812841	T	A	18	70145605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.40177236372848E-4	0.116
18	67812841	T	C	18	70145605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.42599331726238E-4	0.026
18	67812841	T	G	18	70145605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.89126564017817E-5	0.038
18	67812842	A	C	18	70145606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00997321118200194	0.266
18	67812842	A	G	18	70145606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0947445585738556	0.298
18	67812842	A	T	18	70145606	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.250035923601933	0.482
18	67812843	G	A	18	70145607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.19792766015746E-5	0.0
18	67812843	G	C	18	70145607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.63327320241485E-5	0.012
18	67812843	G	T	18	70145607	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.3875781544181E-5	0.006
18	67812844	T	A	18	70145608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.957765398324793	0.746
18	67812844	T	C	18	70145608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.969637650006142	0.704
18	67812844	T	G	18	70145608	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.346256683880042	0.366
18	67812845	C	A	18	70145609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998640385906305	0.644
18	67812845	C	G	18	70145609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.984584185432664	0.674
18	67812845	C	T	18	70145609	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.84010775971443E-4	0.114
18	67812846	A	C	18	70145610	y	y	splicing	RTTN(NM_173630:exon19:c.2481+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2481+2T>G;ENST00000583043:exon14:c.1851+2T>G;ENST00000454359:exon19:c.2481+2T>G;ENST00000581161:exon19:c.2387+2T>G;ENST00000437017:exon19:c.2481+2T>G)	.	.	0.999990155693597	0.922
18	67812846	A	G	18	70145610	y	y	splicing	RTTN(NM_173630:exon19:c.2481+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2481+2T>C;ENST00000583043:exon14:c.1851+2T>C;ENST00000454359:exon19:c.2481+2T>C;ENST00000581161:exon19:c.2387+2T>C;ENST00000437017:exon19:c.2481+2T>C)	.	.	0.999952471728595	0.856
18	67812846	A	T	18	70145610	y	y	splicing	RTTN(NM_173630:exon19:c.2481+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2481+2T>A;ENST00000583043:exon14:c.1851+2T>A;ENST00000454359:exon19:c.2481+2T>A;ENST00000581161:exon19:c.2387+2T>A;ENST00000437017:exon19:c.2481+2T>A)	.	.	0.999990155693597	0.922
18	67812847	C	A	18	70145611	y	y	splicing	RTTN(NM_173630:exon19:c.2481+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2481+1G>T;ENST00000583043:exon14:c.1851+1G>T;ENST00000454359:exon19:c.2481+1G>T;ENST00000581161:exon19:c.2387+1G>T;ENST00000437017:exon19:c.2481+1G>T)	.	.	0.999986675681007	0.928
18	67812847	C	G	18	70145611	y	y	splicing	RTTN(NM_173630:exon19:c.2481+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2481+1G>C;ENST00000583043:exon14:c.1851+1G>C;ENST00000454359:exon19:c.2481+1G>C;ENST00000581161:exon19:c.2387+1G>C;ENST00000437017:exon19:c.2481+1G>C)	.	.	0.999986675681007	0.932
18	67812847	C	T	18	70145611	y	y	splicing	RTTN(NM_173630:exon19:c.2481+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2481+1G>A;ENST00000583043:exon14:c.1851+1G>A;ENST00000454359:exon19:c.2481+1G>A;ENST00000581161:exon19:c.2387+1G>A;ENST00000437017:exon19:c.2481+1G>A)	.	.	0.999986675681007	0.932
18	67812848	C	A	18	70145612	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.G2481T:p.K827N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2481T:p.K827N;ENSG00000176225:ENST00000583043:exon13:c.G1851T:p.K617N;ENSG00000176225:ENST00000255674:exon18:c.G2481T:p.K827N;ENSG00000176225:ENST00000454359:exon18:c.G2481T:p.K827N;	0.999961583005952	0.994
18	67812848	C	G	18	70145612	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.G2481C:p.K827N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2481C:p.K827N;ENSG00000176225:ENST00000583043:exon13:c.G1851C:p.K617N;ENSG00000176225:ENST00000255674:exon18:c.G2481C:p.K827N;ENSG00000176225:ENST00000454359:exon18:c.G2481C:p.K827N;	0.999990987799936	0.996
18	67812848	C	T	18	70145612	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon18:c.G2481A:p.K827K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2481A:p.K827K;ENSG00000176225:ENST00000583043:exon13:c.G1851A:p.K617K;ENSG00000176225:ENST00000255674:exon18:c.G2481A:p.K827K;ENSG00000176225:ENST00000454359:exon18:c.G2481A:p.K827K;	0.999975630087166	0.992
18	67812849	T	A	18	70145613	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.A2480T:p.K827M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.A2480T:p.K827M;ENSG00000176225:ENST00000583043:exon13:c.A1850T:p.K617M;ENSG00000176225:ENST00000255674:exon18:c.A2480T:p.K827M;ENSG00000176225:ENST00000454359:exon18:c.A2480T:p.K827M;	0.999770459450466	0.942
18	67812849	T	C	18	70145613	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.A2480G:p.K827R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.A2480G:p.K827R;ENSG00000176225:ENST00000583043:exon13:c.A1850G:p.K617R;ENSG00000176225:ENST00000255674:exon18:c.A2480G:p.K827R;ENSG00000176225:ENST00000454359:exon18:c.A2480G:p.K827R;	0.996737672424166	0.906
18	67812849	T	G	18	70145613	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.A2480C:p.K827T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.A2480C:p.K827T;ENSG00000176225:ENST00000583043:exon13:c.A1850C:p.K617T;ENSG00000176225:ENST00000255674:exon18:c.A2480C:p.K827T;ENSG00000176225:ENST00000454359:exon18:c.A2480C:p.K827T;	0.98591717322981	0.68
18	67812850	T	A	18	70145614	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon18:c.A2479T:p.K827X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon18:c.A2479T:p.K827X;ENSG00000176225:ENST00000583043:exon13:c.A1849T:p.K617X;ENSG00000176225:ENST00000255674:exon18:c.A2479T:p.K827X;ENSG00000176225:ENST00000454359:exon18:c.A2479T:p.K827X;	0.994799396240664	0.81
18	67812850	T	C	18	70145614	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.A2479G:p.K827E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.A2479G:p.K827E;ENSG00000176225:ENST00000583043:exon13:c.A1849G:p.K617E;ENSG00000176225:ENST00000255674:exon18:c.A2479G:p.K827E;ENSG00000176225:ENST00000454359:exon18:c.A2479G:p.K827E;	0.0568733513406803	0.37
18	67812850	T	G	18	70145614	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.A2479C:p.K827Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.A2479C:p.K827Q;ENSG00000176225:ENST00000583043:exon13:c.A1849C:p.K617Q;ENSG00000176225:ENST00000255674:exon18:c.A2479C:p.K827Q;ENSG00000176225:ENST00000454359:exon18:c.A2479C:p.K827Q;	0.192698538042518	0.454
18	67813018	C	A	18	70145782	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.G2311T:p.V771F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2311T:p.V771F;ENSG00000176225:ENST00000583043:exon13:c.G1681T:p.V561F;ENSG00000176225:ENST00000255674:exon18:c.G2311T:p.V771F;ENSG00000176225:ENST00000454359:exon18:c.G2311T:p.V771F;	0.0180163021997451	0.142
18	67813018	C	G	18	70145782	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.G2311C:p.V771L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2311C:p.V771L;ENSG00000176225:ENST00000583043:exon13:c.G1681C:p.V561L;ENSG00000176225:ENST00000255674:exon18:c.G2311C:p.V771L;ENSG00000176225:ENST00000454359:exon18:c.G2311C:p.V771L;	8.69541043940708E-4	0.1
18	67813018	C	T	18	70145782	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon18:c.G2311A:p.V771I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2311A:p.V771I;ENSG00000176225:ENST00000583043:exon13:c.G1681A:p.V561I;ENSG00000176225:ENST00000255674:exon18:c.G2311A:p.V771I;ENSG00000176225:ENST00000454359:exon18:c.G2311A:p.V771I;	0.00858850270264081	0.072
18	67813019	C	A	18	70145783	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon18:c.G2310T:p.S770S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2310T:p.S770S;ENSG00000176225:ENST00000583043:exon13:c.G1680T:p.S560S;ENSG00000176225:ENST00000255674:exon18:c.G2310T:p.S770S;ENSG00000176225:ENST00000454359:exon18:c.G2310T:p.S770S;	0.0866175753387934	0.444
18	67813019	C	G	18	70145783	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon18:c.G2310C:p.S770S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2310C:p.S770S;ENSG00000176225:ENST00000583043:exon13:c.G1680C:p.S560S;ENSG00000176225:ENST00000255674:exon18:c.G2310C:p.S770S;ENSG00000176225:ENST00000454359:exon18:c.G2310C:p.S770S;	0.0103907019206684	0.378
18	67813019	C	T	18	70145783	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon18:c.G2310A:p.S770S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon18:c.G2310A:p.S770S;ENSG00000176225:ENST00000583043:exon13:c.G1680A:p.S560S;ENSG00000176225:ENST00000255674:exon18:c.G2310A:p.S770S;ENSG00000176225:ENST00000454359:exon18:c.G2310A:p.S770S;	0.0063495610904724	0.244
18	67813020	C	A	18	70145784	y	y	splicing	RTTN(NM_173630:exon19:c.2310-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2310-1G>T;ENST00000583043:exon14:c.1680-1G>T;ENST00000454359:exon19:c.2310-1G>T;ENST00000581161:exon19:c.2216-1G>T;ENST00000437017:exon19:c.2310-1G>T)	.	.	0.999958003653399	0.842
18	67813020	C	G	18	70145784	y	y	splicing	RTTN(NM_173630:exon19:c.2310-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2310-1G>C;ENST00000583043:exon14:c.1680-1G>C;ENST00000454359:exon19:c.2310-1G>C;ENST00000581161:exon19:c.2216-1G>C;ENST00000437017:exon19:c.2310-1G>C)	.	.	0.999958003653399	0.81
18	67813020	C	T	18	70145784	y	y	splicing	RTTN(NM_173630:exon19:c.2310-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2310-1G>A;ENST00000583043:exon14:c.1680-1G>A;ENST00000454359:exon19:c.2310-1G>A;ENST00000581161:exon19:c.2216-1G>A;ENST00000437017:exon19:c.2310-1G>A)	.	.	0.999965661484771	0.852
18	67813021	T	A	18	70145785	y	y	splicing	RTTN(NM_173630:exon19:c.2310-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2310-2A>T;ENST00000583043:exon14:c.1680-2A>T;ENST00000454359:exon19:c.2310-2A>T;ENST00000581161:exon19:c.2216-2A>T;ENST00000437017:exon19:c.2310-2A>T)	.	.	0.999962958601995	0.834
18	67813021	T	C	18	70145785	y	y	splicing	RTTN(NM_173630:exon19:c.2310-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2310-2A>G;ENST00000583043:exon14:c.1680-2A>G;ENST00000454359:exon19:c.2310-2A>G;ENST00000581161:exon19:c.2216-2A>G;ENST00000437017:exon19:c.2310-2A>G)	.	.	0.999962958601995	0.796
18	67813021	T	G	18	70145785	y	y	splicing	RTTN(NM_173630:exon19:c.2310-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon19:c.2310-2A>C;ENST00000583043:exon14:c.1680-2A>C;ENST00000454359:exon19:c.2310-2A>C;ENST00000581161:exon19:c.2216-2A>C;ENST00000437017:exon19:c.2310-2A>C)	.	.	0.999962958601995	0.796
18	67813022	G	A	18	70145786	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.01227364802879E-4	0.042
18	67813022	G	C	18	70145786	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996984930069896	0.728
18	67813022	G	T	18	70145786	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.192894460428186	0.388
18	67813023	A	C	18	70145787	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.09924242277906E-5	0.032
18	67813023	A	G	18	70145787	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.57363601069653E-5	0.014
18	67813023	A	T	18	70145787	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.72541743968823E-6	0.004
18	67813024	G	A	18	70145788	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.52488275546452E-6	0.0
18	67813024	G	C	18	70145788	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00759130217043853	0.122
18	67813024	G	T	18	70145788	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.34125153088426E-4	0.056
18	67813025	A	C	18	70145789	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00536064141549573	0.312
18	67813025	A	G	18	70145789	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.13748597659411E-5	0.028
18	67813025	A	T	18	70145789	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00655457998495461	0.26
18	67813026	A	C	18	70145790	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.907247374089606	0.47
18	67813026	A	G	18	70145790	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.0437557115345E-4	0.046
18	67813026	A	T	18	70145790	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.95644682156853	0.59
18	67813027	C	A	18	70145791	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.92286363615197E-5	0.0
18	67813027	C	G	18	70145791	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.46155804966309E-5	0.01
18	67813027	C	T	18	70145791	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.6583756611541E-4	0.038
18	67813028	A	C	18	70145792	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.803656225255603	0.546
18	67813028	A	G	18	70145792	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00212412294662792	0.05
18	67813028	A	T	18	70145792	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999962079502802	0.982
18	67813029	C	A	18	70145793	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.4988360059907E-5	0.0
18	67813029	C	G	18	70145793	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.56417394643002E-5	0.0
18	67813029	C	T	18	70145793	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.55146761595892E-4	0.0
18	67813030	A	C	18	70145794	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.864977984177898	0.524
18	67813030	A	G	18	70145794	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.107023527955815	0.19
18	67813030	A	T	18	70145794	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99997289463739	0.978
18	67813031	A	C	18	70145795	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0173130559895441	0.394
18	67813031	A	G	18	70145795	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.04087823930498E-4	0.008
18	67813031	A	T	18	70145795	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0429409095089233	0.382
18	67816129	G	A	18	70148893	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.48149552097141E-5	0.002
18	67816129	G	C	18	70148893	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.51622435782578E-4	0.05
18	67816129	G	T	18	70148893	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.89784233335825E-4	0.052
18	67816130	T	A	18	70148894	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.58320395781908E-4	0.006
18	67816130	T	C	18	70148894	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.0762370891686E-4	0.0
18	67816130	T	G	18	70148894	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.84372016919608E-4	0.0
18	67816131	A	C	18	70148895	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.972289166706905	0.76
18	67816131	A	G	18	70148895	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.978670118915529	0.85
18	67816131	A	T	18	70148895	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.974188408619978	0.704
18	67816132	C	A	18	70148896	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999956557672668	0.992
18	67816132	C	G	18	70148896	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999968833967818	0.986
18	67816132	C	T	18	70148896	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999954027383839	0.99
18	67816133	T	A	18	70148897	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999789739085273	0.934
18	67816133	T	C	18	70148897	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999616697743623	0.928
18	67816133	T	G	18	70148897	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998193371496156	0.886
18	67816134	C	A	18	70148898	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.985550122408859	0.542
18	67816134	C	G	18	70148898	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.869043405950585	0.63
18	67816134	C	T	18	70148898	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.28091721884544E-4	0.01
18	67816135	A	C	18	70148899	y	y	splicing	RTTN(NM_173630:exon18:c.2309+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2309+2T>G;ENST00000583043:exon13:c.1679+2T>G;ENST00000454359:exon18:c.2309+2T>G;ENST00000581161:exon18:c.2215+2T>G;ENST00000437017:exon18:c.2309+2T>G)	.	.	0.999989917668626	0.928
18	67816135	A	G	18	70148899	y	y	splicing	RTTN(NM_173630:exon18:c.2309+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2309+2T>C;ENST00000583043:exon13:c.1679+2T>C;ENST00000454359:exon18:c.2309+2T>C;ENST00000581161:exon18:c.2215+2T>C;ENST00000437017:exon18:c.2309+2T>C)	.	.	0.999927254940125	0.864
18	67816135	A	T	18	70148899	y	y	splicing	RTTN(NM_173630:exon18:c.2309+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2309+2T>A;ENST00000583043:exon13:c.1679+2T>A;ENST00000454359:exon18:c.2309+2T>A;ENST00000581161:exon18:c.2215+2T>A;ENST00000437017:exon18:c.2309+2T>A)	.	.	0.999989917668626	0.928
18	67816136	C	A	18	70148900	y	y	splicing	RTTN(NM_173630:exon18:c.2309+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2309+1G>T;ENST00000583043:exon13:c.1679+1G>T;ENST00000454359:exon18:c.2309+1G>T;ENST00000581161:exon18:c.2215+1G>T;ENST00000437017:exon18:c.2309+1G>T)	.	.	0.999986675681007	0.934
18	67816136	C	G	18	70148900	y	y	splicing	RTTN(NM_173630:exon18:c.2309+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2309+1G>C;ENST00000583043:exon13:c.1679+1G>C;ENST00000454359:exon18:c.2309+1G>C;ENST00000581161:exon18:c.2215+1G>C;ENST00000437017:exon18:c.2309+1G>C)	.	.	0.999986675681007	0.934
18	67816136	C	T	18	70148900	y	y	splicing	RTTN(NM_173630:exon18:c.2309+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2309+1G>A;ENST00000583043:exon13:c.1679+1G>A;ENST00000454359:exon18:c.2309+1G>A;ENST00000581161:exon18:c.2215+1G>A;ENST00000437017:exon18:c.2309+1G>A)	.	.	0.999986675681007	0.934
18	67816137	G	A	18	70148901	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.C2309T:p.S770L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.C2309T:p.S770L;ENSG00000176225:ENST00000583043:exon12:c.C1679T:p.S560L;ENSG00000176225:ENST00000255674:exon17:c.C2309T:p.S770L;ENSG00000176225:ENST00000454359:exon17:c.C2309T:p.S770L;	1.46261527396122E-4	0.08
18	67816137	G	C	18	70148901	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.C2309G:p.S770W;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.C2309G:p.S770W;ENSG00000176225:ENST00000583043:exon12:c.C1679G:p.S560W;ENSG00000176225:ENST00000255674:exon17:c.C2309G:p.S770W;ENSG00000176225:ENST00000454359:exon17:c.C2309G:p.S770W;	5.94120250752982E-6	0.284
18	67816137	G	T	18	70148901	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon17:c.C2309A:p.S770X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon17:c.C2309A:p.S770X;ENSG00000176225:ENST00000583043:exon12:c.C1679A:p.S560X;ENSG00000176225:ENST00000255674:exon17:c.C2309A:p.S770X;ENSG00000176225:ENST00000454359:exon17:c.C2309A:p.S770X;	6.36798569134451E-4	0.438
18	67816138	A	C	18	70148902	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.T2308G:p.S770A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.T2308G:p.S770A;ENSG00000176225:ENST00000583043:exon12:c.T1678G:p.S560A;ENSG00000176225:ENST00000255674:exon17:c.T2308G:p.S770A;ENSG00000176225:ENST00000454359:exon17:c.T2308G:p.S770A;	5.51627025528215E-4	0.16
18	67816138	A	G	18	70148902	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.T2308C:p.S770P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.T2308C:p.S770P;ENSG00000176225:ENST00000583043:exon12:c.T1678C:p.S560P;ENSG00000176225:ENST00000255674:exon17:c.T2308C:p.S770P;ENSG00000176225:ENST00000454359:exon17:c.T2308C:p.S770P;	1.82815413781324E-4	0.036
18	67816138	A	T	18	70148902	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.T2308A:p.S770T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.T2308A:p.S770T;ENSG00000176225:ENST00000583043:exon12:c.T1678A:p.S560T;ENSG00000176225:ENST00000255674:exon17:c.T2308A:p.S770T;ENSG00000176225:ENST00000454359:exon17:c.T2308A:p.S770T;	3.54600607976772E-4	0.192
18	67816139	T	A	18	70148903	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon17:c.A2307T:p.P769P;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.A2307T:p.P769P;ENSG00000176225:ENST00000583043:exon12:c.A1677T:p.P559P;ENSG00000176225:ENST00000255674:exon17:c.A2307T:p.P769P;ENSG00000176225:ENST00000454359:exon17:c.A2307T:p.P769P;	2.45016793355844E-4	0.116
18	67816139	T	C	18	70148903	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon17:c.A2307G:p.P769P;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.A2307G:p.P769P;ENSG00000176225:ENST00000583043:exon12:c.A1677G:p.P559P;ENSG00000176225:ENST00000255674:exon17:c.A2307G:p.P769P;ENSG00000176225:ENST00000454359:exon17:c.A2307G:p.P769P;	2.17530511820293E-4	0.022
18	67816139	T	G	18	70148903	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon17:c.A2307C:p.P769P;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.A2307C:p.P769P;ENSG00000176225:ENST00000583043:exon12:c.A1677C:p.P559P;ENSG00000176225:ENST00000255674:exon17:c.A2307C:p.P769P;ENSG00000176225:ENST00000454359:exon17:c.A2307C:p.P769P;	4.44469282941624E-5	0.004
18	67816272	C	A	18	70149036	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.G2174T:p.G725V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.G2174T:p.G725V;ENSG00000176225:ENST00000583043:exon12:c.G1544T:p.G515V;ENSG00000176225:ENST00000255674:exon17:c.G2174T:p.G725V;ENSG00000176225:ENST00000454359:exon17:c.G2174T:p.G725V;	0.951316110504904	0.838
18	67816272	C	G	18	70149036	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.G2174C:p.G725A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.G2174C:p.G725A;ENSG00000176225:ENST00000583043:exon12:c.G1544C:p.G515A;ENSG00000176225:ENST00000255674:exon17:c.G2174C:p.G725A;ENSG00000176225:ENST00000454359:exon17:c.G2174C:p.G725A;	0.886314239838305	0.56
18	67816272	C	T	18	70149036	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.G2174A:p.G725D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.G2174A:p.G725D;ENSG00000176225:ENST00000583043:exon12:c.G1544A:p.G515D;ENSG00000176225:ENST00000255674:exon17:c.G2174A:p.G725D;ENSG00000176225:ENST00000454359:exon17:c.G2174A:p.G725D;	0.824276125490608	0.666
18	67816273	C	A	18	70149037	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.G2173T:p.G725C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.G2173T:p.G725C;ENSG00000176225:ENST00000583043:exon12:c.G1543T:p.G515C;ENSG00000176225:ENST00000255674:exon17:c.G2173T:p.G725C;ENSG00000176225:ENST00000454359:exon17:c.G2173T:p.G725C;	0.999651177694004	0.926
18	67816273	C	G	18	70149037	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.G2173C:p.G725R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.G2173C:p.G725R;ENSG00000176225:ENST00000583043:exon12:c.G1543C:p.G515R;ENSG00000176225:ENST00000255674:exon17:c.G2173C:p.G725R;ENSG00000176225:ENST00000454359:exon17:c.G2173C:p.G725R;	0.9995505076263	0.87
18	67816273	C	T	18	70149037	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon17:c.G2173A:p.G725S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon17:c.G2173A:p.G725S;ENSG00000176225:ENST00000583043:exon12:c.G1543A:p.G515S;ENSG00000176225:ENST00000255674:exon17:c.G2173A:p.G725S;ENSG00000176225:ENST00000454359:exon17:c.G2173A:p.G725S;	0.998257233799014	0.846
18	67816274	C	A	18	70149038	y	y	splicing	RTTN(NM_173630:exon18:c.2173-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2173-1G>T;ENST00000583043:exon13:c.1543-1G>T;ENST00000454359:exon18:c.2173-1G>T;ENST00000581161:exon18:c.2079-1G>T;ENST00000437017:exon18:c.2173-1G>T)	.	.	0.999634014239005	0.828
18	67816274	C	G	18	70149038	y	y	splicing	RTTN(NM_173630:exon18:c.2173-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2173-1G>C;ENST00000583043:exon13:c.1543-1G>C;ENST00000454359:exon18:c.2173-1G>C;ENST00000581161:exon18:c.2079-1G>C;ENST00000437017:exon18:c.2173-1G>C)	.	.	0.999634014239005	0.834
18	67816274	C	T	18	70149038	y	y	splicing	RTTN(NM_173630:exon18:c.2173-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2173-1G>A;ENST00000583043:exon13:c.1543-1G>A;ENST00000454359:exon18:c.2173-1G>A;ENST00000581161:exon18:c.2079-1G>A;ENST00000437017:exon18:c.2173-1G>A)	.	.	0.999634014239005	0.828
18	67816275	T	A	18	70149039	y	y	splicing	RTTN(NM_173630:exon18:c.2173-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2173-2A>T;ENST00000583043:exon13:c.1543-2A>T;ENST00000454359:exon18:c.2173-2A>T;ENST00000581161:exon18:c.2079-2A>T;ENST00000437017:exon18:c.2173-2A>T)	.	.	0.999942706752354	0.884
18	67816275	T	C	18	70149039	y	y	splicing	RTTN(NM_173630:exon18:c.2173-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2173-2A>G;ENST00000583043:exon13:c.1543-2A>G;ENST00000454359:exon18:c.2173-2A>G;ENST00000581161:exon18:c.2079-2A>G;ENST00000437017:exon18:c.2173-2A>G)	.	.	0.999941931786593	0.882
18	67816275	T	G	18	70149039	y	y	splicing	RTTN(NM_173630:exon18:c.2173-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon18:c.2173-2A>C;ENST00000583043:exon13:c.1543-2A>C;ENST00000454359:exon18:c.2173-2A>C;ENST00000581161:exon18:c.2079-2A>C;ENST00000437017:exon18:c.2173-2A>C)	.	.	0.999941931786593	0.882
18	67816276	A	C	18	70149040	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.812078877562025	0.55
18	67816276	A	G	18	70149040	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.09998960680806E-5	0.032
18	67816276	A	T	18	70149040	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.221194594668685	0.42
18	67816277	A	C	18	70149041	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.990578864554937	0.96
18	67816277	A	G	18	70149041	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.35520786156415E-5	0.03
18	67816277	A	T	18	70149041	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.97418567134712E-5	0.052
18	67816278	T	A	18	70149042	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.22798766835204E-5	0.012
18	67816278	T	C	18	70149042	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.03272320196057E-4	0.038
18	67816278	T	G	18	70149042	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.60283418007628E-5	0.008
18	67816279	A	C	18	70149043	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.792465266749939	0.68
18	67816279	A	G	18	70149043	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.67589455077372E-4	0.026
18	67816279	A	T	18	70149043	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.21367976229615	0.606
18	67816280	G	A	18	70149044	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.36053026486699E-5	0.012
18	67816280	G	C	18	70149044	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.51472122102476E-4	0.098
18	67816280	G	T	18	70149044	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.01564943178646E-5	0.104
18	67816281	A	C	18	70149045	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999371378621522	0.982
18	67816281	A	G	18	70149045	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.63515268826539E-4	0.024
18	67816281	A	T	18	70149045	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.777936781317855	0.624
18	67816282	T	A	18	70149046	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.14265076627086E-4	0.052
18	67816282	T	C	18	70149046	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997738907612929	0.954
18	67816282	T	G	18	70149046	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.10433587732674E-5	0.012
18	67816283	T	A	18	70149047	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.01705569775952E-4	0.042
18	67816283	T	C	18	70149047	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997738907612929	0.954
18	67816283	T	G	18	70149047	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.50416998793832E-5	0.006
18	67816284	T	A	18	70149048	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.22771230960875E-5	0.03
18	67816284	T	C	18	70149048	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.34109234111925E-5	0.056
18	67816284	T	G	18	70149048	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.03272425293411E-5	0.0
18	67816285	G	A	18	70149049	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.34284278289794E-5	0.012
18	67816285	G	C	18	70149049	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.851301623413085	0.858
18	67816285	G	T	18	70149049	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.73142469089508E-5	0.122
18	67817199	C	A	18	70149963	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.86480100307746E-4	0.014
18	67817199	C	G	18	70149963	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.25950523048933E-4	0.014
18	67817199	C	T	18	70149963	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.99213564713498E-4	0.01
18	67817200	A	C	18	70149964	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.97695228024184E-4	0.004
18	67817200	A	G	18	70149964	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.76649508874153E-4	0.004
18	67817200	A	T	18	70149964	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.75043720484957E-4	0.008
18	67817201	G	A	18	70149965	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.26038660907393E-4	0.128
18	67817201	G	C	18	70149965	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.24942145018521E-4	0.024
18	67817201	G	T	18	70149965	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.42673877768669E-4	0.016
18	67817202	A	C	18	70149966	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.76680709312508E-4	0.072
18	67817202	A	G	18	70149966	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.52092704117999E-5	0.016
18	67817202	A	T	18	70149966	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.19511747739923E-4	0.018
18	67817203	A	C	18	70149967	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.85479174707254E-4	0.052
18	67817203	A	G	18	70149967	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.40268051533694E-4	0.074
18	67817203	A	T	18	70149967	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.50613693883173E-4	0.072
18	67817204	T	A	18	70149968	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999430656258188	0.71
18	67817204	T	C	18	70149968	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.969076366586138	0.568
18	67817204	T	G	18	70149968	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999599452220438	0.728
18	67817205	A	C	18	70149969	y	y	splicing	RTTN(NM_173630:exon17:c.2172+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2172+2T>G;ENST00000583043:exon12:c.1542+2T>G;ENST00000454359:exon17:c.2172+2T>G;ENST00000581161:exon17:c.2078+2T>G;ENST00000437017:exon17:c.2172+2T>G)	.	.	0.99994568797423	0.96
18	67817205	A	G	18	70149969	y	y	splicing	RTTN(NM_173630:exon17:c.2172+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2172+2T>C;ENST00000583043:exon12:c.1542+2T>C;ENST00000454359:exon17:c.2172+2T>C;ENST00000581161:exon17:c.2078+2T>C;ENST00000437017:exon17:c.2172+2T>C)	.	.	0.943273932537554	0.658
18	67817205	A	T	18	70149969	y	y	splicing	RTTN(NM_173630:exon17:c.2172+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2172+2T>A;ENST00000583043:exon12:c.1542+2T>A;ENST00000454359:exon17:c.2172+2T>A;ENST00000581161:exon17:c.2078+2T>A;ENST00000437017:exon17:c.2172+2T>A)	.	.	0.99994568797423	0.952
18	67817206	C	A	18	70149970	y	y	splicing	RTTN(NM_173630:exon17:c.2172+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2172+1G>T;ENST00000583043:exon12:c.1542+1G>T;ENST00000454359:exon17:c.2172+1G>T;ENST00000581161:exon17:c.2078+1G>T;ENST00000437017:exon17:c.2172+1G>T)	.	.	0.999938422912956	0.942
18	67817206	C	G	18	70149970	y	y	splicing	RTTN(NM_173630:exon17:c.2172+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2172+1G>C;ENST00000583043:exon12:c.1542+1G>C;ENST00000454359:exon17:c.2172+1G>C;ENST00000581161:exon17:c.2078+1G>C;ENST00000437017:exon17:c.2172+1G>C)	.	.	0.999938422912956	0.954
18	67817206	C	T	18	70149970	y	y	splicing	RTTN(NM_173630:exon17:c.2172+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2172+1G>A;ENST00000583043:exon12:c.1542+1G>A;ENST00000454359:exon17:c.2172+1G>A;ENST00000581161:exon17:c.2078+1G>A;ENST00000437017:exon17:c.2172+1G>A)	.	.	0.999938422912956	0.94
18	67817207	C	A	18	70149971	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.G2172T:p.Q724H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.G2172T:p.Q724H;ENSG00000176225:ENST00000583043:exon11:c.G1542T:p.Q514H;ENSG00000176225:ENST00000255674:exon16:c.G2172T:p.Q724H;ENSG00000176225:ENST00000454359:exon16:c.G2172T:p.Q724H;	0.999997963414395	0.996
18	67817207	C	G	18	70149971	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.G2172C:p.Q724H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.G2172C:p.Q724H;ENSG00000176225:ENST00000583043:exon11:c.G1542C:p.Q514H;ENSG00000176225:ENST00000255674:exon16:c.G2172C:p.Q724H;ENSG00000176225:ENST00000454359:exon16:c.G2172C:p.Q724H;	0.999999060998657	1.0
18	67817207	C	T	18	70149971	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon16:c.G2172A:p.Q724Q;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.G2172A:p.Q724Q;ENSG00000176225:ENST00000583043:exon11:c.G1542A:p.Q514Q;ENSG00000176225:ENST00000255674:exon16:c.G2172A:p.Q724Q;ENSG00000176225:ENST00000454359:exon16:c.G2172A:p.Q724Q;	0.999990097740946	0.994
18	67817208	T	A	18	70149972	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.A2171T:p.Q724L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.A2171T:p.Q724L;ENSG00000176225:ENST00000583043:exon11:c.A1541T:p.Q514L;ENSG00000176225:ENST00000255674:exon16:c.A2171T:p.Q724L;ENSG00000176225:ENST00000454359:exon16:c.A2171T:p.Q724L;	0.999962745570009	1.0
18	67817208	T	C	18	70149972	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.A2171G:p.Q724R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.A2171G:p.Q724R;ENSG00000176225:ENST00000583043:exon11:c.A1541G:p.Q514R;ENSG00000176225:ENST00000255674:exon16:c.A2171G:p.Q724R;ENSG00000176225:ENST00000454359:exon16:c.A2171G:p.Q724R;	0.999926172062365	1.0
18	67817208	T	G	18	70149972	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.A2171C:p.Q724P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.A2171C:p.Q724P;ENSG00000176225:ENST00000583043:exon11:c.A1541C:p.Q514P;ENSG00000176225:ENST00000255674:exon16:c.A2171C:p.Q724P;ENSG00000176225:ENST00000454359:exon16:c.A2171C:p.Q724P;	0.999961544807853	0.998
18	67817209	G	A	18	70149973	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon16:c.C2170T:p.Q724X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon16:c.C2170T:p.Q724X;ENSG00000176225:ENST00000583043:exon11:c.C1540T:p.Q514X;ENSG00000176225:ENST00000255674:exon16:c.C2170T:p.Q724X;ENSG00000176225:ENST00000454359:exon16:c.C2170T:p.Q724X;	0.999838812549831	0.994
18	67817209	G	C	18	70149973	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.C2170G:p.Q724E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.C2170G:p.Q724E;ENSG00000176225:ENST00000583043:exon11:c.C1540G:p.Q514E;ENSG00000176225:ENST00000255674:exon16:c.C2170G:p.Q724E;ENSG00000176225:ENST00000454359:exon16:c.C2170G:p.Q724E;	0.892705717900384	0.648
18	67817209	G	T	18	70149973	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.C2170A:p.Q724K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.C2170A:p.Q724K;ENSG00000176225:ENST00000583043:exon11:c.C1540A:p.Q514K;ENSG00000176225:ENST00000255674:exon16:c.C2170A:p.Q724K;ENSG00000176225:ENST00000454359:exon16:c.C2170A:p.Q724K;	0.923979270297835	0.786
18	67817322	A	C	18	70150086	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.T2057G:p.V686G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.T2057G:p.V686G;ENSG00000176225:ENST00000583043:exon11:c.T1427G:p.V476G;ENSG00000176225:ENST00000255674:exon16:c.T2057G:p.V686G;ENSG00000176225:ENST00000454359:exon16:c.T2057G:p.V686G;	0.909661830862908	.
18	67817322	A	G	18	70150086	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.T2057C:p.V686A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.T2057C:p.V686A;ENSG00000176225:ENST00000583043:exon11:c.T1427C:p.V476A;ENSG00000176225:ENST00000255674:exon16:c.T2057C:p.V686A;ENSG00000176225:ENST00000454359:exon16:c.T2057C:p.V686A;	0.915637362713484	.
18	67817322	A	T	18	70150086	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.T2057A:p.V686E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.T2057A:p.V686E;ENSG00000176225:ENST00000583043:exon11:c.T1427A:p.V476E;ENSG00000176225:ENST00000255674:exon16:c.T2057A:p.V686E;ENSG00000176225:ENST00000454359:exon16:c.T2057A:p.V686E;	0.908132281650911	.
18	67817323	C	A	18	70150087	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.G2056T:p.V686L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.G2056T:p.V686L;ENSG00000176225:ENST00000583043:exon11:c.G1426T:p.V476L;ENSG00000176225:ENST00000255674:exon16:c.G2056T:p.V686L;ENSG00000176225:ENST00000454359:exon16:c.G2056T:p.V686L;	0.999947076974249	.
18	67817323	C	G	18	70150087	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.G2056C:p.V686L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.G2056C:p.V686L;ENSG00000176225:ENST00000583043:exon11:c.G1426C:p.V476L;ENSG00000176225:ENST00000255674:exon16:c.G2056C:p.V686L;ENSG00000176225:ENST00000454359:exon16:c.G2056C:p.V686L;	0.999884460875968	.
18	67817323	C	T	18	70150087	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon16:c.G2056A:p.V686M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon16:c.G2056A:p.V686M;ENSG00000176225:ENST00000583043:exon11:c.G1426A:p.V476M;ENSG00000176225:ENST00000255674:exon16:c.G2056A:p.V686M;ENSG00000176225:ENST00000454359:exon16:c.G2056A:p.V686M;	0.999779292469669	.
18	67817324	C	A	18	70150088	y	y	splicing	RTTN(NM_173630:exon17:c.2056-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2056-1G>T;ENST00000583043:exon12:c.1426-1G>T;ENST00000454359:exon17:c.2056-1G>T;ENST00000581161:exon17:c.1962-1G>T;ENST00000437017:exon17:c.2056-1G>T)	.	.	0.999963247997021	.
18	67817324	C	G	18	70150088	y	y	splicing	RTTN(NM_173630:exon17:c.2056-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2056-1G>C;ENST00000583043:exon12:c.1426-1G>C;ENST00000454359:exon17:c.2056-1G>C;ENST00000581161:exon17:c.1962-1G>C;ENST00000437017:exon17:c.2056-1G>C)	.	.	0.999963247997021	.
18	67817324	C	T	18	70150088	y	y	splicing	RTTN(NM_173630:exon17:c.2056-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2056-1G>A;ENST00000583043:exon12:c.1426-1G>A;ENST00000454359:exon17:c.2056-1G>A;ENST00000581161:exon17:c.1962-1G>A;ENST00000437017:exon17:c.2056-1G>A)	.	.	0.999963247997021	.
18	67817325	T	A	18	70150089	y	y	splicing	RTTN(NM_173630:exon17:c.2056-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2056-2A>T;ENST00000583043:exon12:c.1426-2A>T;ENST00000454359:exon17:c.2056-2A>T;ENST00000581161:exon17:c.1962-2A>T;ENST00000437017:exon17:c.2056-2A>T)	.	.	0.999959578889689	.
18	67817325	T	C	18	70150089	y	y	splicing	RTTN(NM_173630:exon17:c.2056-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2056-2A>G;ENST00000583043:exon12:c.1426-2A>G;ENST00000454359:exon17:c.2056-2A>G;ENST00000581161:exon17:c.1962-2A>G;ENST00000437017:exon17:c.2056-2A>G)	.	.	0.999959578889689	.
18	67817325	T	G	18	70150089	y	y	splicing	RTTN(NM_173630:exon17:c.2056-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon17:c.2056-2A>C;ENST00000583043:exon12:c.1426-2A>C;ENST00000454359:exon17:c.2056-2A>C;ENST00000581161:exon17:c.1962-2A>C;ENST00000437017:exon17:c.2056-2A>C)	.	.	0.999959578889689	.
18	67817326	G	A	18	70150090	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0370980966042494	.
18	67817326	G	C	18	70150090	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999927959034556	.
18	67817326	G	T	18	70150090	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.992368801855572	.
18	67817327	C	A	18	70150091	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.58330758160743E-4	.
18	67817327	C	G	18	70150091	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.63933993763673E-5	.
18	67817327	C	T	18	70150091	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.74756390291324E-4	.
18	67817328	T	A	18	70150092	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.61745353443956E-4	.
18	67817328	T	C	18	70150092	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.68241724673466E-4	.
18	67817328	T	G	18	70150092	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.92730913102305E-4	.
18	67817329	C	A	18	70150093	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00166222503981388	.
18	67817329	C	G	18	70150093	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00164336601215349	.
18	67817329	C	T	18	70150093	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0129898450025472	.
18	67817330	A	C	18	70150094	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.106384694683549	.
18	67817330	A	G	18	70150094	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.53431222663178E-4	.
18	67817330	A	T	18	70150094	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999100751122269	.
18	67817331	A	C	18	70150095	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0118537810347127	.
18	67817331	A	G	18	70150095	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.5497506058161E-4	.
18	67817331	A	T	18	70150095	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.812356457944889	.
18	67817332	C	A	18	70150096	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00493099306751337	.
18	67817332	C	G	18	70150096	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00493099306751337	.
18	67817332	C	T	18	70150096	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.141504355157365	.
18	67817333	A	C	18	70150097	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.286630813776922	.
18	67817333	A	G	18	70150097	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.66338206991343E-5	.
18	67817333	A	T	18	70150097	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998713361133033	.
18	67817334	A	C	18	70150098	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997999936918113	.
18	67817334	A	G	18	70150098	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.982302545708279	.
18	67817334	A	T	18	70150098	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999498802019409	.
18	67817335	C	A	18	70150099	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.76262266913375E-5	.
18	67817335	C	G	18	70150099	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.28418555638893E-5	.
18	67817335	C	T	18	70150099	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00185433213463745	.
18	67817836	T	A	18	70150600	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.83891361670493E-5	0.0
18	67817836	T	C	18	70150600	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.15125035961338E-5	0.0
18	67817836	T	G	18	70150600	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.96323034491673E-5	0.0
18	67817837	G	A	18	70150601	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.86989492110201E-4	0.0
18	67817837	G	C	18	70150601	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.43525575050197E-5	0.0
18	67817837	G	T	18	70150601	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.95416100750369E-5	0.0
18	67817838	T	A	18	70150602	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.6491742146399E-5	0.0
18	67817838	T	C	18	70150602	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.63653923873587E-5	0.0
18	67817838	T	G	18	70150602	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.18251619006416E-5	0.016
18	67817839	C	A	18	70150603	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.561878292857535	0.372
18	67817839	C	G	18	70150603	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.742099020894357	0.426
18	67817839	C	T	18	70150603	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.941930286648839	0.458
18	67817840	A	C	18	70150604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.30467158526848E-4	0.084
18	67817840	A	G	18	70150604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.22374114441051E-4	0.018
18	67817840	A	T	18	70150604	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.36798021424768E-4	0.108
18	67817841	T	A	18	70150605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999502686765766	0.914
18	67817841	T	C	18	70150605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999171247755188	0.848
18	67817841	T	G	18	70150605	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999884416699275	0.938
18	67817842	A	C	18	70150606	y	y	splicing	RTTN(NM_173630:exon16:c.2055+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.2055+2T>G;ENST00000583043:exon11:c.1425+2T>G;ENST00000454359:exon16:c.2055+2T>G;ENST00000581161:exon16:c.1961+2T>G;ENST00000437017:exon16:c.2055+2T>G)	.	.	0.999988247793601	0.926
18	67817842	A	G	18	70150606	y	y	splicing	RTTN(NM_173630:exon16:c.2055+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.2055+2T>C;ENST00000583043:exon11:c.1425+2T>C;ENST00000454359:exon16:c.2055+2T>C;ENST00000581161:exon16:c.1961+2T>C;ENST00000437017:exon16:c.2055+2T>C)	.	.	0.986973409415639	0.61
18	67817842	A	T	18	70150606	y	y	splicing	RTTN(NM_173630:exon16:c.2055+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.2055+2T>A;ENST00000583043:exon11:c.1425+2T>A;ENST00000454359:exon16:c.2055+2T>A;ENST00000581161:exon16:c.1961+2T>A;ENST00000437017:exon16:c.2055+2T>A)	.	.	0.999988247793601	0.926
18	67817843	C	A	18	70150607	y	y	splicing	RTTN(NM_173630:exon16:c.2055+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.2055+1G>T;ENST00000583043:exon11:c.1425+1G>T;ENST00000454359:exon16:c.2055+1G>T;ENST00000581161:exon16:c.1961+1G>T;ENST00000437017:exon16:c.2055+1G>T)	.	.	0.999986675681007	0.93
18	67817843	C	G	18	70150607	y	y	splicing	RTTN(NM_173630:exon16:c.2055+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.2055+1G>C;ENST00000583043:exon11:c.1425+1G>C;ENST00000454359:exon16:c.2055+1G>C;ENST00000581161:exon16:c.1961+1G>C;ENST00000437017:exon16:c.2055+1G>C)	.	.	0.999986675681007	0.93
18	67817843	C	T	18	70150607	y	y	splicing	RTTN(NM_173630:exon16:c.2055+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.2055+1G>A;ENST00000583043:exon11:c.1425+1G>A;ENST00000454359:exon16:c.2055+1G>A;ENST00000581161:exon16:c.1961+1G>A;ENST00000437017:exon16:c.2055+1G>A)	.	.	0.999986675681007	0.93
18	67817844	C	A	18	70150608	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.G2055T:p.E685D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.G2055T:p.E685D;ENSG00000176225:ENST00000583043:exon10:c.G1425T:p.E475D;ENSG00000176225:ENST00000255674:exon15:c.G2055T:p.E685D;ENSG00000176225:ENST00000454359:exon15:c.G2055T:p.E685D;	0.999981084635525	0.996
18	67817844	C	G	18	70150608	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.G2055C:p.E685D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.G2055C:p.E685D;ENSG00000176225:ENST00000583043:exon10:c.G1425C:p.E475D;ENSG00000176225:ENST00000255674:exon15:c.G2055C:p.E685D;ENSG00000176225:ENST00000454359:exon15:c.G2055C:p.E685D;	0.999989084407391	0.954
18	67817844	C	T	18	70150608	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon15:c.G2055A:p.E685E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.G2055A:p.E685E;ENSG00000176225:ENST00000583043:exon10:c.G1425A:p.E475E;ENSG00000176225:ENST00000255674:exon15:c.G2055A:p.E685E;ENSG00000176225:ENST00000454359:exon15:c.G2055A:p.E685E;	0.998964925839996	0.978
18	67817845	T	A	18	70150609	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.A2054T:p.E685V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.A2054T:p.E685V;ENSG00000176225:ENST00000583043:exon10:c.A1424T:p.E475V;ENSG00000176225:ENST00000255674:exon15:c.A2054T:p.E685V;ENSG00000176225:ENST00000454359:exon15:c.A2054T:p.E685V;	0.999918668656723	0.994
18	67817845	T	C	18	70150609	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.A2054G:p.E685G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.A2054G:p.E685G;ENSG00000176225:ENST00000583043:exon10:c.A1424G:p.E475G;ENSG00000176225:ENST00000255674:exon15:c.A2054G:p.E685G;ENSG00000176225:ENST00000454359:exon15:c.A2054G:p.E685G;	0.999936083846172	0.992
18	67817845	T	G	18	70150609	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.A2054C:p.E685A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.A2054C:p.E685A;ENSG00000176225:ENST00000583043:exon10:c.A1424C:p.E475A;ENSG00000176225:ENST00000255674:exon15:c.A2054C:p.E685A;ENSG00000176225:ENST00000454359:exon15:c.A2054C:p.E685A;	0.999750722525626	0.944
18	67817846	C	A	18	70150610	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon15:c.G2053T:p.E685X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon15:c.G2053T:p.E685X;ENSG00000176225:ENST00000583043:exon10:c.G1423T:p.E475X;ENSG00000176225:ENST00000255674:exon15:c.G2053T:p.E685X;ENSG00000176225:ENST00000454359:exon15:c.G2053T:p.E685X;	0.978974772178848	0.88
18	67817846	C	G	18	70150610	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.G2053C:p.E685Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.G2053C:p.E685Q;ENSG00000176225:ENST00000583043:exon10:c.G1423C:p.E475Q;ENSG00000176225:ENST00000255674:exon15:c.G2053C:p.E685Q;ENSG00000176225:ENST00000454359:exon15:c.G2053C:p.E685Q;	0.938763494322255	0.758
18	67817846	C	T	18	70150610	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.G2053A:p.E685K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.G2053A:p.E685K;ENSG00000176225:ENST00000583043:exon10:c.G1423A:p.E475K;ENSG00000176225:ENST00000255674:exon15:c.G2053A:p.E685K;ENSG00000176225:ENST00000454359:exon15:c.G2053A:p.E685K;	0.777387181094641	0.574
18	67817968	T	A	18	70150732	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.A1931T:p.E644V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.A1931T:p.E644V;ENSG00000176225:ENST00000583043:exon10:c.A1301T:p.E434V;ENSG00000176225:ENST00000255674:exon15:c.A1931T:p.E644V;ENSG00000176225:ENST00000454359:exon15:c.A1931T:p.E644V;	0.722156731233581	0.786
18	67817968	T	C	18	70150732	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.A1931G:p.E644G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.A1931G:p.E644G;ENSG00000176225:ENST00000583043:exon10:c.A1301G:p.E434G;ENSG00000176225:ENST00000255674:exon15:c.A1931G:p.E644G;ENSG00000176225:ENST00000454359:exon15:c.A1931G:p.E644G;	0.782613767157973	0.612
18	67817968	T	G	18	70150732	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.A1931C:p.E644A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.A1931C:p.E644A;ENSG00000176225:ENST00000583043:exon10:c.A1301C:p.E434A;ENSG00000176225:ENST00000255674:exon15:c.A1931C:p.E644A;ENSG00000176225:ENST00000454359:exon15:c.A1931C:p.E644A;	0.819295941775272	0.736
18	67817969	C	A	18	70150733	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon15:c.G1930T:p.E644X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon15:c.G1930T:p.E644X;ENSG00000176225:ENST00000583043:exon10:c.G1300T:p.E434X;ENSG00000176225:ENST00000255674:exon15:c.G1930T:p.E644X;ENSG00000176225:ENST00000454359:exon15:c.G1930T:p.E644X;	0.995048841517111	0.878
18	67817969	C	G	18	70150733	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.G1930C:p.E644Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.G1930C:p.E644Q;ENSG00000176225:ENST00000583043:exon10:c.G1300C:p.E434Q;ENSG00000176225:ENST00000255674:exon15:c.G1930C:p.E644Q;ENSG00000176225:ENST00000454359:exon15:c.G1930C:p.E644Q;	0.4712262160493	0.594
18	67817969	C	T	18	70150733	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon15:c.G1930A:p.E644K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon15:c.G1930A:p.E644K;ENSG00000176225:ENST00000583043:exon10:c.G1300A:p.E434K;ENSG00000176225:ENST00000255674:exon15:c.G1930A:p.E644K;ENSG00000176225:ENST00000454359:exon15:c.G1930A:p.E644K;	0.609273811133102	0.4
18	67817970	C	A	18	70150734	y	y	splicing	RTTN(NM_173630:exon16:c.1930-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.1930-1G>T;ENST00000583043:exon11:c.1300-1G>T;ENST00000454359:exon16:c.1930-1G>T;ENST00000581161:exon16:c.1836-1G>T;ENST00000437017:exon16:c.1930-1G>T)	.	.	0.999988247793601	0.926
18	67817970	C	G	18	70150734	y	y	splicing	RTTN(NM_173630:exon16:c.1930-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.1930-1G>C;ENST00000583043:exon11:c.1300-1G>C;ENST00000454359:exon16:c.1930-1G>C;ENST00000581161:exon16:c.1836-1G>C;ENST00000437017:exon16:c.1930-1G>C)	.	.	0.999988247793601	0.926
18	67817970	C	T	18	70150734	y	y	splicing	RTTN(NM_173630:exon16:c.1930-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.1930-1G>A;ENST00000583043:exon11:c.1300-1G>A;ENST00000454359:exon16:c.1930-1G>A;ENST00000581161:exon16:c.1836-1G>A;ENST00000437017:exon16:c.1930-1G>A)	.	.	0.999988247793601	0.926
18	67817971	T	A	18	70150735	y	y	splicing	RTTN(NM_173630:exon16:c.1930-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.1930-2A>T;ENST00000583043:exon11:c.1300-2A>T;ENST00000454359:exon16:c.1930-2A>T;ENST00000581161:exon16:c.1836-2A>T;ENST00000437017:exon16:c.1930-2A>T)	.	.	0.999992446697775	0.928
18	67817971	T	C	18	70150735	y	y	splicing	RTTN(NM_173630:exon16:c.1930-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.1930-2A>G;ENST00000583043:exon11:c.1300-2A>G;ENST00000454359:exon16:c.1930-2A>G;ENST00000581161:exon16:c.1836-2A>G;ENST00000437017:exon16:c.1930-2A>G)	.	.	0.999992446697775	0.928
18	67817971	T	G	18	70150735	y	y	splicing	RTTN(NM_173630:exon16:c.1930-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon16:c.1930-2A>C;ENST00000583043:exon11:c.1300-2A>C;ENST00000454359:exon16:c.1930-2A>C;ENST00000581161:exon16:c.1836-2A>C;ENST00000437017:exon16:c.1930-2A>C)	.	.	0.999992446697775	0.928
18	67817972	G	A	18	70150736	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.37151254436928E-4	0.092
18	67817972	G	C	18	70150736	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999718733420051	0.924
18	67817972	G	T	18	70150736	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.299666233321432	0.368
18	67817973	T	A	18	70150737	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.46132834968411E-5	0.0
18	67817973	T	C	18	70150737	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.585416616557E-5	0.0
18	67817973	T	G	18	70150737	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.64588986117306E-5	0.0
18	67817974	A	C	18	70150738	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.408888079081018	0.428
18	67817974	A	G	18	70150738	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.97766070171754E-4	0.006
18	67817974	A	T	18	70150738	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.488970726342608	0.456
18	67817975	A	C	18	70150739	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.156540406117128	0.384
18	67817975	A	G	18	70150739	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.06540631738336E-4	0.002
18	67817975	A	T	18	70150739	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.10491709088669	0.314
18	67817976	A	C	18	70150740	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00584546793230389	0.182
18	67817976	A	G	18	70150740	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.20580834287114E-4	0.004
18	67817976	A	T	18	70150740	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.018930322398902	0.264
18	67817977	A	C	18	70150741	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998590016404986	0.992
18	67817977	A	G	18	70150741	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.91189066720057E-4	0.01
18	67817977	A	T	18	70150741	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0122923544869859	0.206
18	67817978	T	A	18	70150742	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.20497347563252E-5	0.032
18	67817978	T	C	18	70150742	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.99518412035886E-5	0.0
18	67817978	T	G	18	70150742	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.44857363068995E-5	0.002
18	67817979	A	C	18	70150743	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0346940492317364	0.252
18	67817979	A	G	18	70150743	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.36257939206968E-4	0.048
18	67817979	A	T	18	70150743	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.166349824863121	0.318
18	67817980	A	C	18	70150744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999621473645411	0.93
18	67817980	A	G	18	70150744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00808314109237595	0.158
18	67817980	A	T	18	70150744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.502991931692747	0.494
18	67817981	T	A	18	70150745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.78362758608598E-5	0.014
18	67817981	T	C	18	70150745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.97648464575694E-5	0.016
18	67817981	T	G	18	70150745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.75765118448283E-5	0.008
18	67833290	A	C	18	70166054	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.66613294178128E-4	0.014
18	67833290	A	G	18	70166054	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.34098103883236E-4	0.024
18	67833290	A	T	18	70166054	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.36628357499741E-4	0.006
18	67833291	A	C	18	70166055	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.29405757193836E-5	0.0
18	67833291	A	G	18	70166055	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.27247688406419E-5	0.002
18	67833291	A	T	18	70166055	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.503505236937E-4	0.0
18	67833292	C	A	18	70166056	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.1090815199934E-5	0.0
18	67833292	C	G	18	70166056	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.23758636471344E-5	0.0
18	67833292	C	T	18	70166056	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.98357889695466E-5	0.0
18	67833293	C	A	18	70166057	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.935687258229258	0.61
18	67833293	C	G	18	70166057	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.658204573236166	0.444
18	67833293	C	T	18	70166057	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.712496209586013	0.576
18	67833294	T	A	18	70166058	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.536558805187642	0.37
18	67833294	T	C	18	70166058	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.685477885894749	0.412
18	67833294	T	G	18	70166058	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0664981516687384	0.286
18	67833295	C	A	18	70166059	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.227986870368147	0.37
18	67833295	C	G	18	70166059	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.141042573810604	0.424
18	67833295	C	T	18	70166059	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.21221548690917E-4	0.002
18	67833296	A	C	18	70166060	y	y	splicing	RTTN(NM_173630:exon15:c.1929+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1929+2T>G;ENST00000583043:exon10:c.1299+2T>G;ENST00000454359:exon15:c.1929+2T>G;ENST00000581161:exon15:c.1835+2T>G;ENST00000437017:exon15:c.1929+2T>G)	.	.	0.999966203349492	0.938
18	67833296	A	G	18	70166060	y	y	splicing	RTTN(NM_173630:exon15:c.1929+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1929+2T>C;ENST00000583043:exon10:c.1299+2T>C;ENST00000454359:exon15:c.1929+2T>C;ENST00000581161:exon15:c.1835+2T>C;ENST00000437017:exon15:c.1929+2T>C)	.	.	0.999843436821536	0.932
18	67833296	A	T	18	70166060	y	y	splicing	RTTN(NM_173630:exon15:c.1929+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1929+2T>A;ENST00000583043:exon10:c.1299+2T>A;ENST00000454359:exon15:c.1929+2T>A;ENST00000581161:exon15:c.1835+2T>A;ENST00000437017:exon15:c.1929+2T>A)	.	.	0.999966203349492	0.934
18	67833297	C	A	18	70166061	y	y	splicing	RTTN(NM_173630:exon15:c.1929+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1929+1G>T;ENST00000583043:exon10:c.1299+1G>T;ENST00000454359:exon15:c.1929+1G>T;ENST00000581161:exon15:c.1835+1G>T;ENST00000437017:exon15:c.1929+1G>T)	.	.	0.999938422912956	0.942
18	67833297	C	G	18	70166061	y	y	splicing	RTTN(NM_173630:exon15:c.1929+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1929+1G>C;ENST00000583043:exon10:c.1299+1G>C;ENST00000454359:exon15:c.1929+1G>C;ENST00000581161:exon15:c.1835+1G>C;ENST00000437017:exon15:c.1929+1G>C)	.	.	0.999938422912956	0.942
18	67833297	C	T	18	70166061	y	y	splicing	RTTN(NM_173630:exon15:c.1929+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1929+1G>A;ENST00000583043:exon10:c.1299+1G>A;ENST00000454359:exon15:c.1929+1G>A;ENST00000581161:exon15:c.1835+1G>A;ENST00000437017:exon15:c.1929+1G>A)	.	.	0.999938422912956	0.932
18	67833298	C	A	18	70166062	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.G1929T:p.K643N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.G1929T:p.K643N;ENSG00000176225:ENST00000583043:exon9:c.G1299T:p.K433N;ENSG00000176225:ENST00000255674:exon14:c.G1929T:p.K643N;ENSG00000176225:ENST00000454359:exon14:c.G1929T:p.K643N;	0.999928983014233	0.988
18	67833298	C	G	18	70166062	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.G1929C:p.K643N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.G1929C:p.K643N;ENSG00000176225:ENST00000583043:exon9:c.G1299C:p.K433N;ENSG00000176225:ENST00000255674:exon14:c.G1929C:p.K643N;ENSG00000176225:ENST00000454359:exon14:c.G1929C:p.K643N;	0.999996580229587	1.0
18	67833298	C	T	18	70166062	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon14:c.G1929A:p.K643K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.G1929A:p.K643K;ENSG00000176225:ENST00000583043:exon9:c.G1299A:p.K433K;ENSG00000176225:ENST00000255674:exon14:c.G1929A:p.K643K;ENSG00000176225:ENST00000454359:exon14:c.G1929A:p.K643K;	0.997283796256172	0.918
18	67833299	T	A	18	70166063	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.A1928T:p.K643M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.A1928T:p.K643M;ENSG00000176225:ENST00000583043:exon9:c.A1298T:p.K433M;ENSG00000176225:ENST00000255674:exon14:c.A1928T:p.K643M;ENSG00000176225:ENST00000454359:exon14:c.A1928T:p.K643M;	0.999681772314062	0.988
18	67833299	T	C	18	70166063	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.A1928G:p.K643R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.A1928G:p.K643R;ENSG00000176225:ENST00000583043:exon9:c.A1298G:p.K433R;ENSG00000176225:ENST00000255674:exon14:c.A1928G:p.K643R;ENSG00000176225:ENST00000454359:exon14:c.A1928G:p.K643R;	0.999748869279785	0.998
18	67833299	T	G	18	70166063	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.A1928C:p.K643T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.A1928C:p.K643T;ENSG00000176225:ENST00000583043:exon9:c.A1298C:p.K433T;ENSG00000176225:ENST00000255674:exon14:c.A1928C:p.K643T;ENSG00000176225:ENST00000454359:exon14:c.A1928C:p.K643T;	0.998021328507912	0.978
18	67833300	T	A	18	70166064	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon14:c.A1927T:p.K643X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon14:c.A1927T:p.K643X;ENSG00000176225:ENST00000583043:exon9:c.A1297T:p.K433X;ENSG00000176225:ENST00000255674:exon14:c.A1927T:p.K643X;ENSG00000176225:ENST00000454359:exon14:c.A1927T:p.K643X;	0.977871891644772	0.69
18	67833300	T	C	18	70166064	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.A1927G:p.K643E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.A1927G:p.K643E;ENSG00000176225:ENST00000583043:exon9:c.A1297G:p.K433E;ENSG00000176225:ENST00000255674:exon14:c.A1927G:p.K643E;ENSG00000176225:ENST00000454359:exon14:c.A1927G:p.K643E;	0.0687976402745417	0.308
18	67833300	T	G	18	70166064	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.A1927C:p.K643Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.A1927C:p.K643Q;ENSG00000176225:ENST00000583043:exon9:c.A1297C:p.K433Q;ENSG00000176225:ENST00000255674:exon14:c.A1927C:p.K643Q;ENSG00000176225:ENST00000454359:exon14:c.A1927C:p.K643Q;	0.0698925225252111	0.3
18	67833423	A	C	18	70166187	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.T1804G:p.W602G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.T1804G:p.W602G;ENSG00000176225:ENST00000583043:exon9:c.T1174G:p.W392G;ENSG00000176225:ENST00000255674:exon14:c.T1804G:p.W602G;ENSG00000176225:ENST00000454359:exon14:c.T1804G:p.W602G;	0.0277902750105092	0.18
18	67833423	A	G	18	70166187	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.T1804C:p.W602R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.T1804C:p.W602R;ENSG00000176225:ENST00000583043:exon9:c.T1174C:p.W392R;ENSG00000176225:ENST00000255674:exon14:c.T1804C:p.W602R;ENSG00000176225:ENST00000454359:exon14:c.T1804C:p.W602R;	0.0448513527048557	0.22
18	67833423	A	T	18	70166187	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.T1804A:p.W602R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.T1804A:p.W602R;ENSG00000176225:ENST00000583043:exon9:c.T1174A:p.W392R;ENSG00000176225:ENST00000255674:exon14:c.T1804A:p.W602R;ENSG00000176225:ENST00000454359:exon14:c.T1804A:p.W602R;	0.0496462002524458	0.276
18	67833424	G	A	18	70166188	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon14:c.C1803T:p.I601I;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.C1803T:p.I601I;ENSG00000176225:ENST00000583043:exon9:c.C1173T:p.I391I;ENSG00000176225:ENST00000255674:exon14:c.C1803T:p.I601I;ENSG00000176225:ENST00000454359:exon14:c.C1803T:p.I601I;	5.52899383253853E-4	0.118
18	67833424	G	C	18	70166188	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon14:c.C1803G:p.I601M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.C1803G:p.I601M;ENSG00000176225:ENST00000583043:exon9:c.C1173G:p.I391M;ENSG00000176225:ENST00000255674:exon14:c.C1803G:p.I601M;ENSG00000176225:ENST00000454359:exon14:c.C1803G:p.I601M;	1.64500196929067E-4	0.066
18	67833424	G	T	18	70166188	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon14:c.C1803A:p.I601I;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon14:c.C1803A:p.I601I;ENSG00000176225:ENST00000583043:exon9:c.C1173A:p.I391I;ENSG00000176225:ENST00000255674:exon14:c.C1803A:p.I601I;ENSG00000176225:ENST00000454359:exon14:c.C1803A:p.I601I;	4.66873065674339E-5	0.006
18	67833425	C	A	18	70166189	y	y	splicing	RTTN(NM_173630:exon15:c.1803-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1803-1G>T;ENST00000583043:exon10:c.1173-1G>T;ENST00000454359:exon15:c.1803-1G>T;ENST00000581161:exon15:c.1709-1G>T;ENST00000437017:exon15:c.1803-1G>T)	.	.	0.999986675681007	0.95
18	67833425	C	G	18	70166189	y	y	splicing	RTTN(NM_173630:exon15:c.1803-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1803-1G>C;ENST00000583043:exon10:c.1173-1G>C;ENST00000454359:exon15:c.1803-1G>C;ENST00000581161:exon15:c.1709-1G>C;ENST00000437017:exon15:c.1803-1G>C)	.	.	0.999986675681007	0.95
18	67833425	C	T	18	70166189	y	y	splicing	RTTN(NM_173630:exon15:c.1803-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1803-1G>A;ENST00000583043:exon10:c.1173-1G>A;ENST00000454359:exon15:c.1803-1G>A;ENST00000581161:exon15:c.1709-1G>A;ENST00000437017:exon15:c.1803-1G>A)	.	.	0.999986675681007	0.95
18	67833426	T	A	18	70166190	y	y	splicing	RTTN(NM_173630:exon15:c.1803-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1803-2A>T;ENST00000583043:exon10:c.1173-2A>T;ENST00000454359:exon15:c.1803-2A>T;ENST00000581161:exon15:c.1709-2A>T;ENST00000437017:exon15:c.1803-2A>T)	.	.	0.999989917668626	0.95
18	67833426	T	C	18	70166190	y	y	splicing	RTTN(NM_173630:exon15:c.1803-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1803-2A>G;ENST00000583043:exon10:c.1173-2A>G;ENST00000454359:exon15:c.1803-2A>G;ENST00000581161:exon15:c.1709-2A>G;ENST00000437017:exon15:c.1803-2A>G)	.	.	0.999989917668626	0.95
18	67833426	T	G	18	70166190	y	y	splicing	RTTN(NM_173630:exon15:c.1803-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon15:c.1803-2A>C;ENST00000583043:exon10:c.1173-2A>C;ENST00000454359:exon15:c.1803-2A>C;ENST00000581161:exon15:c.1709-2A>C;ENST00000437017:exon15:c.1803-2A>C)	.	.	0.999989917668626	0.95
18	67833427	G	A	18	70166191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.060318903522601	0.258
18	67833427	G	C	18	70166191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999776719010602	0.958
18	67833427	G	T	18	70166191	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998962938296381	0.902
18	67833428	G	A	18	70166192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.98427890882726E-4	0.018
18	67833428	G	C	18	70166192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.501814147213885	0.494
18	67833428	G	T	18	70166192	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.17480231449043E-4	0.022
18	67833429	T	A	18	70166193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.46658475514184E-5	0.008
18	67833429	T	C	18	70166193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.24552253233786E-5	0.014
18	67833429	T	G	18	70166193	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.9003464198406E-5	0.0
18	67833430	G	A	18	70166194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.20191745158811E-5	0.002
18	67833430	G	C	18	70166194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.14155504014814E-4	0.174
18	67833430	G	T	18	70166194	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.96828245996986E-4	0.188
18	67833431	A	C	18	70166195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0305865650940029	0.092
18	67833431	A	G	18	70166195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.40005574888165E-5	0.026
18	67833431	A	T	18	70166195	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.120262221801966	0.25
18	67833432	A	C	18	70166196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.62781507330807E-4	0.048
18	67833432	A	G	18	70166196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.75611769942134E-6	0.0
18	67833432	A	T	18	70166196	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00432213965316352	0.16
18	67833433	A	C	18	70166197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0285500787770621	0.292
18	67833433	A	G	18	70166197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00405815706808245	0.096
18	67833433	A	T	18	70166197	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0737059922174668	0.358
18	67833434	A	C	18	70166198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0499780948989926	0.416
18	67833434	A	G	18	70166198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.39388600954371E-4	0.014
18	67833434	A	T	18	70166198	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0192844039228065	0.384
18	67833435	G	A	18	70166199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.37549692584271E-5	0.0
18	67833435	G	C	18	70166199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.06371775738529E-4	0.046
18	67833435	G	T	18	70166199	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.56310758519364E-4	0.02
18	67833436	G	A	18	70166200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.50938326361073E-5	0.004
18	67833436	G	C	18	70166200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999740515506203	0.954
18	67833436	G	T	18	70166200	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00104237748373398	0.046
18	67834147	A	C	18	70166911	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.16642784306225E-5	.
18	67834147	A	G	18	70166911	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.7144447414479E-4	.
18	67834147	A	T	18	70166911	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.84730292693979E-4	.
18	67834148	A	C	18	70166912	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.2597140859107E-4	.
18	67834148	A	G	18	70166912	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.22379959060263E-4	.
18	67834148	A	T	18	70166912	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00196979768508958	.
18	67834149	T	A	18	70166913	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.55999341205865E-4	.
18	67834149	T	C	18	70166913	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.26377836688818E-4	.
18	67834149	T	G	18	70166913	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00272359806082332	.
18	67834150	A	C	18	70166914	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00958768570805059	.
18	67834150	A	G	18	70166914	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0685862893822021	.
18	67834150	A	T	18	70166914	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.103615247989251	.
18	67834151	T	A	18	70166915	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999948068168715	.
18	67834151	T	C	18	70166915	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99986284005933	.
18	67834151	T	G	18	70166915	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999915016628917	.
18	67834152	T	A	18	70166916	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999878359569156	.
18	67834152	T	C	18	70166916	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997784395987498	.
18	67834152	T	G	18	70166916	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999895327835795	.
18	67834153	A	C	18	70166917	y	y	splicing	RTTN(NM_173630:exon14:c.1802+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1802+2T>G;ENST00000583043:exon9:c.1172+2T>G;ENST00000454359:exon14:c.1802+2T>G;ENST00000581161:exon14:c.1708+2T>G;ENST00000437017:exon14:c.1802+2T>G)	.	.	0.999926102992308	.
18	67834153	A	G	18	70166917	y	y	splicing	RTTN(NM_173630:exon14:c.1802+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1802+2T>C;ENST00000583043:exon9:c.1172+2T>C;ENST00000454359:exon14:c.1802+2T>C;ENST00000581161:exon14:c.1708+2T>C;ENST00000437017:exon14:c.1802+2T>C)	.	.	0.958337120122117	.
18	67834153	A	T	18	70166917	y	y	splicing	RTTN(NM_173630:exon14:c.1802+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1802+2T>A;ENST00000583043:exon9:c.1172+2T>A;ENST00000454359:exon14:c.1802+2T>A;ENST00000581161:exon14:c.1708+2T>A;ENST00000437017:exon14:c.1802+2T>A)	.	.	0.999926102992308	.
18	67834154	C	A	18	70166918	y	y	splicing	RTTN(NM_173630:exon14:c.1802+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1802+1G>T;ENST00000583043:exon9:c.1172+1G>T;ENST00000454359:exon14:c.1802+1G>T;ENST00000581161:exon14:c.1708+1G>T;ENST00000437017:exon14:c.1802+1G>T)	.	.	0.999977563026637	.
18	67834154	C	G	18	70166918	y	y	splicing	RTTN(NM_173630:exon14:c.1802+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1802+1G>C;ENST00000583043:exon9:c.1172+1G>C;ENST00000454359:exon14:c.1802+1G>C;ENST00000581161:exon14:c.1708+1G>C;ENST00000437017:exon14:c.1802+1G>C)	.	.	0.999977563026637	.
18	67834154	C	T	18	70166918	y	y	splicing	RTTN(NM_173630:exon14:c.1802+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1802+1G>A;ENST00000583043:exon9:c.1172+1G>A;ENST00000454359:exon14:c.1802+1G>A;ENST00000581161:exon14:c.1708+1G>A;ENST00000437017:exon14:c.1802+1G>A)	.	.	0.999977563026637	.
18	67834155	A	C	18	70166919	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.T1802G:p.I601S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.T1802G:p.I601S;ENSG00000176225:ENST00000583043:exon8:c.T1172G:p.I391S;ENSG00000176225:ENST00000255674:exon13:c.T1802G:p.I601S;ENSG00000176225:ENST00000454359:exon13:c.T1802G:p.I601S;	0.414554736931296	.
18	67834155	A	G	18	70166919	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.T1802C:p.I601T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.T1802C:p.I601T;ENSG00000176225:ENST00000583043:exon8:c.T1172C:p.I391T;ENSG00000176225:ENST00000255674:exon13:c.T1802C:p.I601T;ENSG00000176225:ENST00000454359:exon13:c.T1802C:p.I601T;	0.973290579461631	.
18	67834155	A	T	18	70166919	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.T1802A:p.I601N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.T1802A:p.I601N;ENSG00000176225:ENST00000583043:exon8:c.T1172A:p.I391N;ENSG00000176225:ENST00000255674:exon13:c.T1802A:p.I601N;ENSG00000176225:ENST00000454359:exon13:c.T1802A:p.I601N;	0.849839212549229	.
18	67834156	T	A	18	70166920	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.A1801T:p.I601F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.A1801T:p.I601F;ENSG00000176225:ENST00000583043:exon8:c.A1171T:p.I391F;ENSG00000176225:ENST00000255674:exon13:c.A1801T:p.I601F;ENSG00000176225:ENST00000454359:exon13:c.A1801T:p.I601F;	0.999830289241478	.
18	67834156	T	C	18	70166920	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.A1801G:p.I601V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.A1801G:p.I601V;ENSG00000176225:ENST00000583043:exon8:c.A1171G:p.I391V;ENSG00000176225:ENST00000255674:exon13:c.A1801G:p.I601V;ENSG00000176225:ENST00000454359:exon13:c.A1801G:p.I601V;	0.999624729153276	.
18	67834156	T	G	18	70166920	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.A1801C:p.I601L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.A1801C:p.I601L;ENSG00000176225:ENST00000583043:exon8:c.A1171C:p.I391L;ENSG00000176225:ENST00000255674:exon13:c.A1801C:p.I601L;ENSG00000176225:ENST00000454359:exon13:c.A1801C:p.I601L;	0.991726247267995	.
18	67834157	C	A	18	70166921	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.G1800T:p.K600N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.G1800T:p.K600N;ENSG00000176225:ENST00000583043:exon8:c.G1170T:p.K390N;ENSG00000176225:ENST00000255674:exon13:c.G1800T:p.K600N;ENSG00000176225:ENST00000454359:exon13:c.G1800T:p.K600N;	0.00122944198273039	.
18	67834157	C	G	18	70166921	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.G1800C:p.K600N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.G1800C:p.K600N;ENSG00000176225:ENST00000583043:exon8:c.G1170C:p.K390N;ENSG00000176225:ENST00000255674:exon13:c.G1800C:p.K600N;ENSG00000176225:ENST00000454359:exon13:c.G1800C:p.K600N;	5.792609160108E-4	.
18	67834157	C	T	18	70166921	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon13:c.G1800A:p.K600K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.G1800A:p.K600K;ENSG00000176225:ENST00000583043:exon8:c.G1170A:p.K390K;ENSG00000176225:ENST00000255674:exon13:c.G1800A:p.K600K;ENSG00000176225:ENST00000454359:exon13:c.G1800A:p.K600K;	1.26105237339508E-4	.
18	67834266	C	A	18	70167030	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.G1691T:p.G564V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.G1691T:p.G564V;ENSG00000176225:ENST00000583043:exon8:c.G1061T:p.G354V;ENSG00000176225:ENST00000255674:exon13:c.G1691T:p.G564V;ENSG00000176225:ENST00000454359:exon13:c.G1691T:p.G564V;	0.136390107613693	0.478
18	67834266	C	G	18	70167030	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.G1691C:p.G564A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.G1691C:p.G564A;ENSG00000176225:ENST00000583043:exon8:c.G1061C:p.G354A;ENSG00000176225:ENST00000255674:exon13:c.G1691C:p.G564A;ENSG00000176225:ENST00000454359:exon13:c.G1691C:p.G564A;	0.168948407782493	0.478
18	67834266	C	T	18	70167030	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.G1691A:p.G564E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.G1691A:p.G564E;ENSG00000176225:ENST00000583043:exon8:c.G1061A:p.G354E;ENSG00000176225:ENST00000255674:exon13:c.G1691A:p.G564E;ENSG00000176225:ENST00000454359:exon13:c.G1691A:p.G564E;	0.233167629670674	0.356
18	67834267	C	A	18	70167031	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon13:c.G1690T:p.G564X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon13:c.G1690T:p.G564X;ENSG00000176225:ENST00000583043:exon8:c.G1060T:p.G354X;ENSG00000176225:ENST00000255674:exon13:c.G1690T:p.G564X;ENSG00000176225:ENST00000454359:exon13:c.G1690T:p.G564X;	0.999819722195016	0.972
18	67834267	C	G	18	70167031	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.G1690C:p.G564R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.G1690C:p.G564R;ENSG00000176225:ENST00000583043:exon8:c.G1060C:p.G354R;ENSG00000176225:ENST00000255674:exon13:c.G1690C:p.G564R;ENSG00000176225:ENST00000454359:exon13:c.G1690C:p.G564R;	0.999374410526403	0.884
18	67834267	C	T	18	70167031	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon13:c.G1690A:p.G564R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon13:c.G1690A:p.G564R;ENSG00000176225:ENST00000583043:exon8:c.G1060A:p.G354R;ENSG00000176225:ENST00000255674:exon13:c.G1690A:p.G564R;ENSG00000176225:ENST00000454359:exon13:c.G1690A:p.G564R;	0.997583882565499	0.932
18	67834268	C	A	18	70167032	y	y	splicing	RTTN(NM_173630:exon14:c.1690-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1690-1G>T;ENST00000583043:exon9:c.1060-1G>T;ENST00000454359:exon14:c.1690-1G>T;ENST00000581161:exon14:c.1596-1G>T;ENST00000437017:exon14:c.1690-1G>T)	.	.	0.999989072007339	0.934
18	67834268	C	G	18	70167032	y	y	splicing	RTTN(NM_173630:exon14:c.1690-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1690-1G>C;ENST00000583043:exon9:c.1060-1G>C;ENST00000454359:exon14:c.1690-1G>C;ENST00000581161:exon14:c.1596-1G>C;ENST00000437017:exon14:c.1690-1G>C)	.	.	0.999989072007339	0.934
18	67834268	C	T	18	70167032	y	y	splicing	RTTN(NM_173630:exon14:c.1690-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1690-1G>A;ENST00000583043:exon9:c.1060-1G>A;ENST00000454359:exon14:c.1690-1G>A;ENST00000581161:exon14:c.1596-1G>A;ENST00000437017:exon14:c.1690-1G>A)	.	.	0.999989072007339	0.934
18	67834269	T	A	18	70167033	y	y	splicing	RTTN(NM_173630:exon14:c.1690-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1690-2A>T;ENST00000583043:exon9:c.1060-2A>T;ENST00000454359:exon14:c.1690-2A>T;ENST00000581161:exon14:c.1596-2A>T;ENST00000437017:exon14:c.1690-2A>T)	.	.	0.999988247793601	0.93
18	67834269	T	C	18	70167033	y	y	splicing	RTTN(NM_173630:exon14:c.1690-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1690-2A>G;ENST00000583043:exon9:c.1060-2A>G;ENST00000454359:exon14:c.1690-2A>G;ENST00000581161:exon14:c.1596-2A>G;ENST00000437017:exon14:c.1690-2A>G)	.	.	0.999988247793601	0.93
18	67834269	T	G	18	70167033	y	y	splicing	RTTN(NM_173630:exon14:c.1690-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon14:c.1690-2A>C;ENST00000583043:exon9:c.1060-2A>C;ENST00000454359:exon14:c.1690-2A>C;ENST00000581161:exon14:c.1596-2A>C;ENST00000437017:exon14:c.1690-2A>C)	.	.	0.999988247793601	0.93
18	67834270	A	C	18	70167034	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.994521776338465	0.616
18	67834270	A	G	18	70167034	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.68601381470851E-4	0.058
18	67834270	A	T	18	70167034	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00805897192710397	0.176
18	67834271	C	A	18	70167035	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.98681324732375E-5	0.0
18	67834271	C	G	18	70167035	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.31060854348103E-5	0.0
18	67834271	C	T	18	70167035	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.27906698835366E-5	0.0
18	67834272	A	C	18	70167036	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0474814472869003	0.32
18	67834272	A	G	18	70167036	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.50119059900393E-4	0.016
18	67834272	A	T	18	70167036	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999516412780251	0.958
18	67834273	A	C	18	70167037	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00853849212787937	0.138
18	67834273	A	G	18	70167037	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.34060896410193E-4	0.022
18	67834273	A	T	18	70167037	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0150415815377566	0.162
18	67834274	A	C	18	70167038	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.30347506836626E-4	0.048
18	67834274	A	G	18	70167038	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.62879189416631E-5	0.002
18	67834274	A	T	18	70167038	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00314462081373632	0.06
18	67834275	A	C	18	70167039	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00144576462459478	0.088
18	67834275	A	G	18	70167039	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.68997076182375E-4	0.02
18	67834275	A	T	18	70167039	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00197340269067708	0.084
18	67834276	G	A	18	70167040	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.31168180321769E-6	0.054
18	67834276	G	C	18	70167040	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.53746065298263E-5	0.038
18	67834276	G	T	18	70167040	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.13038820707741E-5	0.048
18	67834277	A	C	18	70167041	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00285370585489588	0.188
18	67834277	A	G	18	70167041	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.45957791620446E-4	0.022
18	67834277	A	T	18	70167041	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00226351909315246	0.18
18	67834278	A	C	18	70167042	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00583506087230177	0.192
18	67834278	A	G	18	70167042	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00779337259214764	0.098
18	67834278	A	T	18	70167042	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0104321688028508	0.208
18	67834279	G	A	18	70167043	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.86727932047541E-5	0.0
18	67834279	G	C	18	70167043	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.22194891639048E-4	0.03
18	67834279	G	T	18	70167043	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.64792813872603E-4	0.042
18	67836083	C	A	18	70168847	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.94631805146701E-5	0.0
18	67836083	C	G	18	70168847	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.9971495316755E-5	0.0
18	67836083	C	T	18	70168847	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.9971495316755E-5	0.0
18	67836084	T	A	18	70168848	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.11220724128722E-4	0.0
18	67836084	T	C	18	70168848	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.70727468404504E-4	0.0
18	67836084	T	G	18	70168848	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.33141600191487E-5	0.0
18	67836085	T	A	18	70168849	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.35272372995133E-5	0.012
18	67836085	T	C	18	70168849	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.06593435777205E-5	0.0
18	67836085	T	G	18	70168849	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.89382773915125E-4	0.02
18	67836086	T	A	18	70168850	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.0223198046266E-4	0.026
18	67836086	T	C	18	70168850	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.22894570147767E-4	0.182
18	67836086	T	G	18	70168850	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.01293789526423E-4	0.02
18	67836087	T	A	18	70168851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.413116531566557	0.374
18	67836087	T	C	18	70168851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.847461543725863	0.61
18	67836087	T	G	18	70168851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.421619566199925	0.462
18	67836088	T	A	18	70168852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999812838564613	0.926
18	67836088	T	C	18	70168852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998379954209261	0.73
18	67836088	T	G	18	70168852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999785176841852	0.924
18	67836089	A	C	18	70168853	y	y	splicing	RTTN(NM_173630:exon13:c.1689+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1689+2T>G;ENST00000583043:exon8:c.1059+2T>G;ENST00000454359:exon13:c.1689+2T>G;ENST00000581161:exon13:c.1595+2T>G;ENST00000437017:exon13:c.1689+2T>G)	.	.	0.99994568797423	0.94
18	67836089	A	G	18	70168853	y	y	splicing	RTTN(NM_173630:exon13:c.1689+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1689+2T>C;ENST00000583043:exon8:c.1059+2T>C;ENST00000454359:exon13:c.1689+2T>C;ENST00000581161:exon13:c.1595+2T>C;ENST00000437017:exon13:c.1689+2T>C)	.	.	0.961316586553648	0.68
18	67836089	A	T	18	70168853	y	y	splicing	RTTN(NM_173630:exon13:c.1689+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1689+2T>A;ENST00000583043:exon8:c.1059+2T>A;ENST00000454359:exon13:c.1689+2T>A;ENST00000581161:exon13:c.1595+2T>A;ENST00000437017:exon13:c.1689+2T>A)	.	.	0.99994568797423	0.93
18	67836090	C	A	18	70168854	y	y	splicing	RTTN(NM_173630:exon13:c.1689+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1689+1G>T;ENST00000583043:exon8:c.1059+1G>T;ENST00000454359:exon13:c.1689+1G>T;ENST00000581161:exon13:c.1595+1G>T;ENST00000437017:exon13:c.1689+1G>T)	.	.	0.999938422912956	0.93
18	67836090	C	G	18	70168854	y	y	splicing	RTTN(NM_173630:exon13:c.1689+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1689+1G>C;ENST00000583043:exon8:c.1059+1G>C;ENST00000454359:exon13:c.1689+1G>C;ENST00000581161:exon13:c.1595+1G>C;ENST00000437017:exon13:c.1689+1G>C)	.	.	0.999938422912956	0.93
18	67836090	C	T	18	70168854	y	y	splicing	RTTN(NM_173630:exon13:c.1689+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1689+1G>A;ENST00000583043:exon8:c.1059+1G>A;ENST00000454359:exon13:c.1689+1G>A;ENST00000581161:exon13:c.1595+1G>A;ENST00000437017:exon13:c.1689+1G>A)	.	.	0.999938422912956	0.926
18	67836091	C	A	18	70168855	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.G1689T:p.E563D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.G1689T:p.E563D;ENSG00000176225:ENST00000583043:exon7:c.G1059T:p.E353D;ENSG00000176225:ENST00000255674:exon12:c.G1689T:p.E563D;ENSG00000176225:ENST00000454359:exon12:c.G1689T:p.E563D;	0.999990846406755	1.0
18	67836091	C	G	18	70168855	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.G1689C:p.E563D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.G1689C:p.E563D;ENSG00000176225:ENST00000583043:exon7:c.G1059C:p.E353D;ENSG00000176225:ENST00000255674:exon12:c.G1689C:p.E563D;ENSG00000176225:ENST00000454359:exon12:c.G1689C:p.E563D;	0.999997852716802	1.0
18	67836091	C	T	18	70168855	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon12:c.G1689A:p.E563E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.G1689A:p.E563E;ENSG00000176225:ENST00000583043:exon7:c.G1059A:p.E353E;ENSG00000176225:ENST00000255674:exon12:c.G1689A:p.E563E;ENSG00000176225:ENST00000454359:exon12:c.G1689A:p.E563E;	0.99997647360772	0.976
18	67836092	T	A	18	70168856	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.A1688T:p.E563V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.A1688T:p.E563V;ENSG00000176225:ENST00000583043:exon7:c.A1058T:p.E353V;ENSG00000176225:ENST00000255674:exon12:c.A1688T:p.E563V;ENSG00000176225:ENST00000454359:exon12:c.A1688T:p.E563V;	0.999803963945277	0.948
18	67836092	T	C	18	70168856	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.A1688G:p.E563G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.A1688G:p.E563G;ENSG00000176225:ENST00000583043:exon7:c.A1058G:p.E353G;ENSG00000176225:ENST00000255674:exon12:c.A1688G:p.E563G;ENSG00000176225:ENST00000454359:exon12:c.A1688G:p.E563G;	0.999879647523127	0.942
18	67836092	T	G	18	70168856	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.A1688C:p.E563A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.A1688C:p.E563A;ENSG00000176225:ENST00000583043:exon7:c.A1058C:p.E353A;ENSG00000176225:ENST00000255674:exon12:c.A1688C:p.E563A;ENSG00000176225:ENST00000454359:exon12:c.A1688C:p.E563A;	0.998554952978354	0.84
18	67836093	C	A	18	70168857	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon12:c.G1687T:p.E563X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon12:c.G1687T:p.E563X;ENSG00000176225:ENST00000583043:exon7:c.G1057T:p.E353X;ENSG00000176225:ENST00000255674:exon12:c.G1687T:p.E563X;ENSG00000176225:ENST00000454359:exon12:c.G1687T:p.E563X;	0.990977850462214	0.808
18	67836093	C	G	18	70168857	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.G1687C:p.E563Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.G1687C:p.E563Q;ENSG00000176225:ENST00000583043:exon7:c.G1057C:p.E353Q;ENSG00000176225:ENST00000255674:exon12:c.G1687C:p.E563Q;ENSG00000176225:ENST00000454359:exon12:c.G1687C:p.E563Q;	0.900119436467093	0.63
18	67836093	C	T	18	70168857	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.G1687A:p.E563K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.G1687A:p.E563K;ENSG00000176225:ENST00000583043:exon7:c.G1057A:p.E353K;ENSG00000176225:ENST00000255674:exon12:c.G1687A:p.E563K;ENSG00000176225:ENST00000454359:exon12:c.G1687A:p.E563K;	0.357782335299684	0.478
18	67836302	G	A	18	70169066	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.C1478T:p.A493V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.C1478T:p.A493V;ENSG00000176225:ENST00000583043:exon7:c.C848T:p.A283V;ENSG00000176225:ENST00000255674:exon12:c.C1478T:p.A493V;ENSG00000176225:ENST00000454359:exon12:c.C1478T:p.A493V;	0.613684399090265	0.58
18	67836302	G	C	18	70169066	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.C1478G:p.A493G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.C1478G:p.A493G;ENSG00000176225:ENST00000583043:exon7:c.C848G:p.A283G;ENSG00000176225:ENST00000255674:exon12:c.C1478G:p.A493G;ENSG00000176225:ENST00000454359:exon12:c.C1478G:p.A493G;	0.957206570150667	0.624
18	67836302	G	T	18	70169066	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.C1478A:p.A493E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.C1478A:p.A493E;ENSG00000176225:ENST00000583043:exon7:c.C848A:p.A283E;ENSG00000176225:ENST00000255674:exon12:c.C1478A:p.A493E;ENSG00000176225:ENST00000454359:exon12:c.C1478A:p.A493E;	0.969897821308283	0.648
18	67836303	C	A	18	70169067	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.G1477T:p.A493S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.G1477T:p.A493S;ENSG00000176225:ENST00000583043:exon7:c.G847T:p.A283S;ENSG00000176225:ENST00000255674:exon12:c.G1477T:p.A493S;ENSG00000176225:ENST00000454359:exon12:c.G1477T:p.A493S;	0.999930836765576	0.918
18	67836303	C	G	18	70169067	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.G1477C:p.A493P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.G1477C:p.A493P;ENSG00000176225:ENST00000583043:exon7:c.G847C:p.A283P;ENSG00000176225:ENST00000255674:exon12:c.G1477C:p.A493P;ENSG00000176225:ENST00000454359:exon12:c.G1477C:p.A493P;	0.999924056079859	0.85
18	67836303	C	T	18	70169067	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon12:c.G1477A:p.A493T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon12:c.G1477A:p.A493T;ENSG00000176225:ENST00000583043:exon7:c.G847A:p.A283T;ENSG00000176225:ENST00000255674:exon12:c.G1477A:p.A493T;ENSG00000176225:ENST00000454359:exon12:c.G1477A:p.A493T;	0.999893878593336	0.844
18	67836304	C	A	18	70169068	y	y	splicing	RTTN(NM_173630:exon13:c.1477-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1477-1G>T;ENST00000583043:exon8:c.847-1G>T;ENST00000454359:exon13:c.1477-1G>T;ENST00000437017:exon13:c.1477-1G>T)	.	.	0.999880609660148	0.876
18	67836304	C	G	18	70169068	y	y	splicing	RTTN(NM_173630:exon13:c.1477-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1477-1G>C;ENST00000583043:exon8:c.847-1G>C;ENST00000454359:exon13:c.1477-1G>C;ENST00000437017:exon13:c.1477-1G>C)	.	.	0.999880609660148	0.874
18	67836304	C	T	18	70169068	y	y	splicing	RTTN(NM_173630:exon13:c.1477-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1477-1G>A;ENST00000583043:exon8:c.847-1G>A;ENST00000454359:exon13:c.1477-1G>A;ENST00000437017:exon13:c.1477-1G>A)	.	.	0.99984878940473	0.882
18	67836305	T	A	18	70169069	y	y	splicing	RTTN(NM_173630:exon13:c.1477-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1477-2A>T;ENST00000583043:exon8:c.847-2A>T;ENST00000454359:exon13:c.1477-2A>T;ENST00000437017:exon13:c.1477-2A>T)	.	.	0.999918281598377	0.864
18	67836305	T	C	18	70169069	y	y	splicing	RTTN(NM_173630:exon13:c.1477-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1477-2A>G;ENST00000583043:exon8:c.847-2A>G;ENST00000454359:exon13:c.1477-2A>G;ENST00000437017:exon13:c.1477-2A>G)	.	.	0.999918281598377	0.864
18	67836305	T	G	18	70169069	y	y	splicing	RTTN(NM_173630:exon13:c.1477-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon13:c.1477-2A>C;ENST00000583043:exon8:c.847-2A>C;ENST00000454359:exon13:c.1477-2A>C;ENST00000437017:exon13:c.1477-2A>C)	.	.	0.999918281598377	0.864
18	67836306	T	A	18	70169070	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0011905039911934	0.076
18	67836306	T	C	18	70169070	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0307889092782689	0.278
18	67836306	T	G	18	70169070	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00102654835391955	0.152
18	67836307	G	A	18	70169071	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.09805753833473E-6	0.006
18	67836307	G	C	18	70169071	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.35895221949029E-5	0.058
18	67836307	G	T	18	70169071	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.26271166193056E-5	0.05
18	67836308	G	A	18	70169072	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.1223141969009E-6	0.006
18	67836308	G	C	18	70169072	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.930805999740828	0.822
18	67836308	G	T	18	70169072	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.53905741113441E-5	0.13
18	67836309	T	A	18	70169073	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.87004890174832E-5	0.046
18	67836309	T	C	18	70169073	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.30572149743795E-4	0.05
18	67836309	T	G	18	70169073	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.87004890174832E-5	0.038
18	67836310	G	A	18	70169074	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.37430327608436E-4	0.066
18	67836310	G	C	18	70169074	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00202634944944703	0.234
18	67836310	G	T	18	70169074	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.83234195867418E-4	0.146
18	67836311	A	C	18	70169075	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0100232003933181	0.39
18	67836311	A	G	18	70169075	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.0829226736129E-5	0.026
18	67836311	A	T	18	70169075	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.297022056494723	0.528
18	67836312	A	C	18	70169076	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999636107396481	0.934
18	67836312	A	G	18	70169076	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.89991743108672E-4	0.054
18	67836312	A	T	18	70169076	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.142644211827144	0.596
18	67836313	T	A	18	70169077	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.10244282398267E-4	0.052
18	67836313	T	C	18	70169077	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999183279516293	0.888
18	67836313	T	G	18	70169077	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.87379918565339E-5	0.008
18	67836314	T	A	18	70169078	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.1637492470277E-4	0.148
18	67836314	T	C	18	70169078	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.79908622659141E-5	0.026
18	67836314	T	G	18	70169078	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.16172515819081E-4	0.04
18	67836315	A	C	18	70169079	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.47419874097024E-4	0.208
18	67836315	A	G	18	70169079	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.4891701729461E-5	0.032
18	67836315	A	T	18	70169079	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00410892554455974	0.348
18	67843903	T	A	18	70176667	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.80274866394675E-5	0.0
18	67843903	T	C	18	70176667	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.80274866394675E-5	0.002
18	67843903	T	G	18	70176667	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.80274866394675E-5	0.0
18	67843904	G	A	18	70176668	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.19479803553351E-5	0.0
18	67843904	G	C	18	70176668	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.71270796416981E-5	0.0
18	67843904	G	T	18	70176668	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.15928931281605E-5	0.0
18	67843905	C	A	18	70176669	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.97561113937507E-5	0.002
18	67843905	C	G	18	70176669	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.07436342911094E-4	0.006
18	67843905	C	T	18	70176669	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.86211509971625E-5	0.004
18	67843906	C	A	18	70176670	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.858235859858567	0.598
18	67843906	C	G	18	70176670	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.833057138873256	0.626
18	67843906	C	T	18	70176670	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.966736568104253	0.604
18	67843907	T	A	18	70176671	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.653574248422577	0.552
18	67843907	T	C	18	70176671	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.816897015023879	0.456
18	67843907	T	G	18	70176671	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.565120572868597	0.55
18	67843908	T	A	18	70176672	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.415682559237936	0.43
18	67843908	T	C	18	70176672	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.68466214943712E-4	0.028
18	67843908	T	G	18	70176672	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.644074014449397	0.438
18	67843909	A	C	18	70176673	y	y	splicing	RTTN(NM_173630:exon12:c.1476+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1476+2T>G;ENST00000583043:exon7:c.846+2T>G;ENST00000454359:exon12:c.1476+2T>G;ENST00000581161:exon12:c.1476+2T>G;ENST00000437017:exon12:c.1476+2T>G)	.	.	0.999989917668626	0.924
18	67843909	A	G	18	70176673	y	y	splicing	RTTN(NM_173630:exon12:c.1476+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1476+2T>C;ENST00000583043:exon7:c.846+2T>C;ENST00000454359:exon12:c.1476+2T>C;ENST00000581161:exon12:c.1476+2T>C;ENST00000437017:exon12:c.1476+2T>C)	.	.	0.988042962918841	0.598
18	67843909	A	T	18	70176673	y	y	splicing	RTTN(NM_173630:exon12:c.1476+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1476+2T>A;ENST00000583043:exon7:c.846+2T>A;ENST00000454359:exon12:c.1476+2T>A;ENST00000581161:exon12:c.1476+2T>A;ENST00000437017:exon12:c.1476+2T>A)	.	.	0.999989917668626	0.924
18	67843910	C	A	18	70176674	y	y	splicing	RTTN(NM_173630:exon12:c.1476+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1476+1G>T;ENST00000583043:exon7:c.846+1G>T;ENST00000454359:exon12:c.1476+1G>T;ENST00000581161:exon12:c.1476+1G>T;ENST00000437017:exon12:c.1476+1G>T)	.	.	0.999986675681007	0.934
18	67843910	C	G	18	70176674	y	y	splicing	RTTN(NM_173630:exon12:c.1476+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1476+1G>C;ENST00000583043:exon7:c.846+1G>C;ENST00000454359:exon12:c.1476+1G>C;ENST00000581161:exon12:c.1476+1G>C;ENST00000437017:exon12:c.1476+1G>C)	.	.	0.999986675681007	0.924
18	67843910	C	T	18	70176674	y	y	splicing	RTTN(NM_173630:exon12:c.1476+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1476+1G>A;ENST00000583043:exon7:c.846+1G>A;ENST00000454359:exon12:c.1476+1G>A;ENST00000581161:exon12:c.1476+1G>A;ENST00000437017:exon12:c.1476+1G>A)	.	.	0.999986675681007	0.934
18	67843911	C	A	18	70176675	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.G1476T:p.K492N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.G1476T:p.K492N;ENSG00000176225:ENST00000583043:exon6:c.G846T:p.K282N;ENSG00000176225:ENST00000255674:exon11:c.G1476T:p.K492N;ENSG00000176225:ENST00000581161:exon11:c.G1476T:p.K492N;ENSG00000176225:ENST00000454359:exon11:c.G1476T:p.K492N;	0.997600168025379	0.976
18	67843911	C	G	18	70176675	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.G1476C:p.K492N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.G1476C:p.K492N;ENSG00000176225:ENST00000583043:exon6:c.G846C:p.K282N;ENSG00000176225:ENST00000255674:exon11:c.G1476C:p.K492N;ENSG00000176225:ENST00000581161:exon11:c.G1476C:p.K492N;ENSG00000176225:ENST00000454359:exon11:c.G1476C:p.K492N;	0.999581672494471	0.926
18	67843911	C	T	18	70176675	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon11:c.G1476A:p.K492K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.G1476A:p.K492K;ENSG00000176225:ENST00000583043:exon6:c.G846A:p.K282K;ENSG00000176225:ENST00000255674:exon11:c.G1476A:p.K492K;ENSG00000176225:ENST00000581161:exon11:c.G1476A:p.K492K;ENSG00000176225:ENST00000454359:exon11:c.G1476A:p.K492K;	0.999541145025419	0.986
18	67843912	T	A	18	70176676	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1475T:p.K492M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1475T:p.K492M;ENSG00000176225:ENST00000583043:exon6:c.A845T:p.K282M;ENSG00000176225:ENST00000255674:exon11:c.A1475T:p.K492M;ENSG00000176225:ENST00000581161:exon11:c.A1475T:p.K492M;ENSG00000176225:ENST00000454359:exon11:c.A1475T:p.K492M;	0.862881274183631	0.542
18	67843912	T	C	18	70176676	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1475G:p.K492R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1475G:p.K492R;ENSG00000176225:ENST00000583043:exon6:c.A845G:p.K282R;ENSG00000176225:ENST00000255674:exon11:c.A1475G:p.K492R;ENSG00000176225:ENST00000581161:exon11:c.A1475G:p.K492R;ENSG00000176225:ENST00000454359:exon11:c.A1475G:p.K492R;	0.962782994287642	0.88
18	67843912	T	G	18	70176676	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1475C:p.K492T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1475C:p.K492T;ENSG00000176225:ENST00000583043:exon6:c.A845C:p.K282T;ENSG00000176225:ENST00000255674:exon11:c.A1475C:p.K492T;ENSG00000176225:ENST00000581161:exon11:c.A1475C:p.K492T;ENSG00000176225:ENST00000454359:exon11:c.A1475C:p.K492T;	0.829015199962516	0.714
18	67843913	T	A	18	70176677	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon11:c.A1474T:p.K492X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon11:c.A1474T:p.K492X;ENSG00000176225:ENST00000583043:exon6:c.A844T:p.K282X;ENSG00000176225:ENST00000255674:exon11:c.A1474T:p.K492X;ENSG00000176225:ENST00000581161:exon11:c.A1474T:p.K492X;ENSG00000176225:ENST00000454359:exon11:c.A1474T:p.K492X;	0.89742260642732	0.574
18	67843913	T	C	18	70176677	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1474G:p.K492E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1474G:p.K492E;ENSG00000176225:ENST00000583043:exon6:c.A844G:p.K282E;ENSG00000176225:ENST00000255674:exon11:c.A1474G:p.K492E;ENSG00000176225:ENST00000581161:exon11:c.A1474G:p.K492E;ENSG00000176225:ENST00000454359:exon11:c.A1474G:p.K492E;	0.0208540747196573	0.27
18	67843913	T	G	18	70176677	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1474C:p.K492Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1474C:p.K492Q;ENSG00000176225:ENST00000583043:exon6:c.A844C:p.K282Q;ENSG00000176225:ENST00000255674:exon11:c.A1474C:p.K492Q;ENSG00000176225:ENST00000581161:exon11:c.A1474C:p.K492Q;ENSG00000176225:ENST00000454359:exon11:c.A1474C:p.K492Q;	0.00751195934112954	0.118
18	67844080	T	A	18	70176844	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1307T:p.K436M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1307T:p.K436M;ENSG00000176225:ENST00000583043:exon6:c.A677T:p.K226M;ENSG00000176225:ENST00000255674:exon11:c.A1307T:p.K436M;ENSG00000176225:ENST00000581161:exon11:c.A1307T:p.K436M;ENSG00000176225:ENST00000454359:exon11:c.A1307T:p.K436M;	0.00137643214877	0.066
18	67844080	T	C	18	70176844	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1307G:p.K436R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1307G:p.K436R;ENSG00000176225:ENST00000583043:exon6:c.A677G:p.K226R;ENSG00000176225:ENST00000255674:exon11:c.A1307G:p.K436R;ENSG00000176225:ENST00000581161:exon11:c.A1307G:p.K436R;ENSG00000176225:ENST00000454359:exon11:c.A1307G:p.K436R;	2.97201215671662E-4	0.054
18	67844080	T	G	18	70176844	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1307C:p.K436T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1307C:p.K436T;ENSG00000176225:ENST00000583043:exon6:c.A677C:p.K226T;ENSG00000176225:ENST00000255674:exon11:c.A1307C:p.K436T;ENSG00000176225:ENST00000581161:exon11:c.A1307C:p.K436T;ENSG00000176225:ENST00000454359:exon11:c.A1307C:p.K436T;	5.70265191933998E-4	0.052
18	67844081	T	A	18	70176845	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon11:c.A1306T:p.K436X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon11:c.A1306T:p.K436X;ENSG00000176225:ENST00000583043:exon6:c.A676T:p.K226X;ENSG00000176225:ENST00000255674:exon11:c.A1306T:p.K436X;ENSG00000176225:ENST00000581161:exon11:c.A1306T:p.K436X;ENSG00000176225:ENST00000454359:exon11:c.A1306T:p.K436X;	0.373799785578369	0.466
18	67844081	T	C	18	70176845	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1306G:p.K436E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1306G:p.K436E;ENSG00000176225:ENST00000583043:exon6:c.A676G:p.K226E;ENSG00000176225:ENST00000255674:exon11:c.A1306G:p.K436E;ENSG00000176225:ENST00000581161:exon11:c.A1306G:p.K436E;ENSG00000176225:ENST00000454359:exon11:c.A1306G:p.K436E;	0.00423568253633408	0.1
18	67844081	T	G	18	70176845	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon11:c.A1306C:p.K436Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon11:c.A1306C:p.K436Q;ENSG00000176225:ENST00000583043:exon6:c.A676C:p.K226Q;ENSG00000176225:ENST00000255674:exon11:c.A1306C:p.K436Q;ENSG00000176225:ENST00000581161:exon11:c.A1306C:p.K436Q;ENSG00000176225:ENST00000454359:exon11:c.A1306C:p.K436Q;	0.0305914147763956	0.202
18	67844082	C	A	18	70176846	y	y	splicing	RTTN(NM_173630:exon12:c.1306-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1306-1G>T;ENST00000583043:exon7:c.676-1G>T;ENST00000454359:exon12:c.1306-1G>T;ENST00000581161:exon12:c.1306-1G>T;ENST00000437017:exon12:c.1306-1G>T)	.	.	0.999985605487397	0.906
18	67844082	C	G	18	70176846	y	y	splicing	RTTN(NM_173630:exon12:c.1306-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1306-1G>C;ENST00000583043:exon7:c.676-1G>C;ENST00000454359:exon12:c.1306-1G>C;ENST00000581161:exon12:c.1306-1G>C;ENST00000437017:exon12:c.1306-1G>C)	.	.	0.999985605487397	0.906
18	67844082	C	T	18	70176846	y	y	splicing	RTTN(NM_173630:exon12:c.1306-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1306-1G>A;ENST00000583043:exon7:c.676-1G>A;ENST00000454359:exon12:c.1306-1G>A;ENST00000581161:exon12:c.1306-1G>A;ENST00000437017:exon12:c.1306-1G>A)	.	.	0.999985605487397	0.898
18	67844083	T	A	18	70176847	y	y	splicing	RTTN(NM_173630:exon12:c.1306-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1306-2A>T;ENST00000583043:exon7:c.676-2A>T;ENST00000454359:exon12:c.1306-2A>T;ENST00000581161:exon12:c.1306-2A>T;ENST00000437017:exon12:c.1306-2A>T)	.	.	0.99995932652174	0.9
18	67844083	T	C	18	70176847	y	y	splicing	RTTN(NM_173630:exon12:c.1306-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1306-2A>G;ENST00000583043:exon7:c.676-2A>G;ENST00000454359:exon12:c.1306-2A>G;ENST00000581161:exon12:c.1306-2A>G;ENST00000437017:exon12:c.1306-2A>G)	.	.	0.999958776350729	0.9
18	67844083	T	G	18	70176847	y	y	splicing	RTTN(NM_173630:exon12:c.1306-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon12:c.1306-2A>C;ENST00000583043:exon7:c.676-2A>C;ENST00000454359:exon12:c.1306-2A>C;ENST00000581161:exon12:c.1306-2A>C;ENST00000437017:exon12:c.1306-2A>C)	.	.	0.999958776350729	0.9
18	67844084	G	A	18	70176848	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00223495131062327	0.106
18	67844084	G	C	18	70176848	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99410949115725	0.776
18	67844084	G	T	18	70176848	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.95628996010898	0.776
18	67844085	A	C	18	70176849	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.20443082759152E-4	0.062
18	67844085	A	G	18	70176849	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.93502375011907E-4	0.062
18	67844085	A	T	18	70176849	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.85510400500185E-4	0.012
18	67844086	A	C	18	70176850	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.986769166508299	0.696
18	67844086	A	G	18	70176850	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0364405239968349	0.176
18	67844086	A	T	18	70176850	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.944683492891466	0.664
18	67844087	A	C	18	70176851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.159480618849032	0.55
18	67844087	A	G	18	70176851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.64531564424996E-4	0.038
18	67844087	A	T	18	70176851	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.350922820688654	0.572
18	67844088	A	C	18	70176852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00427059684436572	0.124
18	67844088	A	G	18	70176852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.47216659163637E-5	0.014
18	67844088	A	T	18	70176852	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.022407839044387	0.182
18	67844089	C	A	18	70176853	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.17960648334546E-4	0.024
18	67844089	C	G	18	70176853	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.04842815115868E-4	0.014
18	67844089	C	T	18	70176853	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.4747614032283E-4	0.068
18	67844090	A	C	18	70176854	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999568763407775	0.95
18	67844090	A	G	18	70176854	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00131844339714901	0.104
18	67844090	A	T	18	70176854	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999626101105782	0.944
18	67844091	T	A	18	70176855	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.91429486719938E-4	0.008
18	67844091	T	C	18	70176855	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997931971201848	0.972
18	67844091	T	G	18	70176855	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.09887940467991E-4	0.008
18	67844092	T	A	18	70176856	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.23211630553239E-4	0.108
18	67844092	T	C	18	70176856	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998006509133155	0.954
18	67844092	T	G	18	70176856	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.09887940467991E-4	0.004
18	67844093	T	A	18	70176857	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.78708530400911E-5	0.03
18	67844093	T	C	18	70176857	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.7513503641656E-5	0.022
18	67844093	T	G	18	70176857	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.68898091605841E-5	0.008
18	67855336	A	C	18	70188100	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.0306498048882E-4	0.004
18	67855336	A	G	18	70188100	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.47701886715005E-4	0.004
18	67855336	A	T	18	70188100	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.24271619346451E-4	0.008
18	67855337	T	A	18	70188101	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.62723584935663E-4	0.006
18	67855337	T	C	18	70188101	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.64433963402282E-4	0.006
18	67855337	T	G	18	70188101	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.37660782053663E-4	0.008
18	67855338	T	A	18	70188102	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.24667100082856E-4	0.008
18	67855338	T	C	18	70188102	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.46830624794439E-4	0.012
18	67855338	T	G	18	70188102	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00103109181408539	0.034
18	67855339	C	A	18	70188103	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999254192464367	0.864
18	67855339	C	G	18	70188103	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999746415974775	0.984
18	67855339	C	T	18	70188103	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999723644596212	0.976
18	67855340	T	A	18	70188104	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999446461270952	0.918
18	67855340	T	C	18	70188104	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996518709172073	0.942
18	67855340	T	G	18	70188104	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997844948323606	0.902
18	67855341	T	A	18	70188105	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.972505439039828	0.742
18	67855341	T	C	18	70188105	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0030246065495745	0.224
18	67855341	T	G	18	70188105	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.980345264545017	0.776
18	67855342	A	C	18	70188106	y	y	splicing	RTTN(NM_173630:exon11:c.1305+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1305+2T>G;ENST00000583043:exon6:c.675+2T>G;ENST00000454359:exon11:c.1305+2T>G;ENST00000581161:exon11:c.1305+2T>G;ENST00000437017:exon11:c.1305+2T>G)	.	.	0.999988247793601	0.926
18	67855342	A	G	18	70188106	y	y	splicing	RTTN(NM_173630:exon11:c.1305+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1305+2T>C;ENST00000583043:exon6:c.675+2T>C;ENST00000454359:exon11:c.1305+2T>C;ENST00000581161:exon11:c.1305+2T>C;ENST00000437017:exon11:c.1305+2T>C)	.	.	0.99991522016916	0.884
18	67855342	A	T	18	70188106	y	y	splicing	RTTN(NM_173630:exon11:c.1305+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1305+2T>A;ENST00000583043:exon6:c.675+2T>A;ENST00000454359:exon11:c.1305+2T>A;ENST00000581161:exon11:c.1305+2T>A;ENST00000437017:exon11:c.1305+2T>A)	.	.	0.999988247793601	0.928
18	67855343	C	A	18	70188107	y	y	splicing	RTTN(NM_173630:exon11:c.1305+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1305+1G>T;ENST00000583043:exon6:c.675+1G>T;ENST00000454359:exon11:c.1305+1G>T;ENST00000581161:exon11:c.1305+1G>T;ENST00000437017:exon11:c.1305+1G>T)	.	.	0.999985532734767	0.936
18	67855343	C	G	18	70188107	y	y	splicing	RTTN(NM_173630:exon11:c.1305+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1305+1G>C;ENST00000583043:exon6:c.675+1G>C;ENST00000454359:exon11:c.1305+1G>C;ENST00000581161:exon11:c.1305+1G>C;ENST00000437017:exon11:c.1305+1G>C)	.	.	0.999985532734767	0.936
18	67855343	C	T	18	70188107	y	y	splicing	RTTN(NM_173630:exon11:c.1305+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1305+1G>A;ENST00000583043:exon6:c.675+1G>A;ENST00000454359:exon11:c.1305+1G>A;ENST00000581161:exon11:c.1305+1G>A;ENST00000437017:exon11:c.1305+1G>A)	.	.	0.999985532734767	0.936
18	67855344	C	A	18	70188108	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.G1305T:p.M435I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.G1305T:p.M435I;ENSG00000176225:ENST00000583043:exon5:c.G675T:p.M225I;ENSG00000176225:ENST00000255674:exon10:c.G1305T:p.M435I;ENSG00000176225:ENST00000581161:exon10:c.G1305T:p.M435I;ENSG00000176225:ENST00000454359:exon10:c.G1305T:p.M435I;	0.999863352631399	0.998
18	67855344	C	G	18	70188108	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.G1305C:p.M435I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.G1305C:p.M435I;ENSG00000176225:ENST00000583043:exon5:c.G675C:p.M225I;ENSG00000176225:ENST00000255674:exon10:c.G1305C:p.M435I;ENSG00000176225:ENST00000581161:exon10:c.G1305C:p.M435I;ENSG00000176225:ENST00000454359:exon10:c.G1305C:p.M435I;	0.999863831568335	0.95
18	67855344	C	T	18	70188108	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.G1305A:p.M435I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.G1305A:p.M435I;ENSG00000176225:ENST00000583043:exon5:c.G675A:p.M225I;ENSG00000176225:ENST00000255674:exon10:c.G1305A:p.M435I;ENSG00000176225:ENST00000581161:exon10:c.G1305A:p.M435I;ENSG00000176225:ENST00000454359:exon10:c.G1305A:p.M435I;	0.999544405032082	0.976
18	67855345	A	C	18	70188109	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.T1304G:p.M435R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.T1304G:p.M435R;ENSG00000176225:ENST00000583043:exon5:c.T674G:p.M225R;ENSG00000176225:ENST00000255674:exon10:c.T1304G:p.M435R;ENSG00000176225:ENST00000581161:exon10:c.T1304G:p.M435R;ENSG00000176225:ENST00000454359:exon10:c.T1304G:p.M435R;	0.0193066992457989	0.14
18	67855345	A	G	18	70188109	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.T1304C:p.M435T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.T1304C:p.M435T;ENSG00000176225:ENST00000583043:exon5:c.T674C:p.M225T;ENSG00000176225:ENST00000255674:exon10:c.T1304C:p.M435T;ENSG00000176225:ENST00000581161:exon10:c.T1304C:p.M435T;ENSG00000176225:ENST00000454359:exon10:c.T1304C:p.M435T;	0.0233294100755742	0.138
18	67855345	A	T	18	70188109	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.T1304A:p.M435K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.T1304A:p.M435K;ENSG00000176225:ENST00000583043:exon5:c.T674A:p.M225K;ENSG00000176225:ENST00000255674:exon10:c.T1304A:p.M435K;ENSG00000176225:ENST00000581161:exon10:c.T1304A:p.M435K;ENSG00000176225:ENST00000454359:exon10:c.T1304A:p.M435K;	0.0151833237034043	0.22
18	67855346	T	A	18	70188110	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.A1303T:p.M435L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.A1303T:p.M435L;ENSG00000176225:ENST00000583043:exon5:c.A673T:p.M225L;ENSG00000176225:ENST00000255674:exon10:c.A1303T:p.M435L;ENSG00000176225:ENST00000581161:exon10:c.A1303T:p.M435L;ENSG00000176225:ENST00000454359:exon10:c.A1303T:p.M435L;	0.0095453766786103	0.182
18	67855346	T	C	18	70188110	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.A1303G:p.M435V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.A1303G:p.M435V;ENSG00000176225:ENST00000583043:exon5:c.A673G:p.M225V;ENSG00000176225:ENST00000255674:exon10:c.A1303G:p.M435V;ENSG00000176225:ENST00000581161:exon10:c.A1303G:p.M435V;ENSG00000176225:ENST00000454359:exon10:c.A1303G:p.M435V;	6.64148165001531E-4	0.016
18	67855346	T	G	18	70188110	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.A1303C:p.M435L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.A1303C:p.M435L;ENSG00000176225:ENST00000583043:exon5:c.A673C:p.M225L;ENSG00000176225:ENST00000255674:exon10:c.A1303C:p.M435L;ENSG00000176225:ENST00000581161:exon10:c.A1303C:p.M435L;ENSG00000176225:ENST00000454359:exon10:c.A1303C:p.M435L;	8.30326708962351E-4	0.004
18	67855458	A	C	18	70188222	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon10:c.T1191G:p.G397G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.T1191G:p.G397G;ENSG00000176225:ENST00000583043:exon5:c.T561G:p.G187G;ENSG00000176225:ENST00000255674:exon10:c.T1191G:p.G397G;ENSG00000176225:ENST00000581161:exon10:c.T1191G:p.G397G;ENSG00000176225:ENST00000454359:exon10:c.T1191G:p.G397G;	6.59341254830515E-5	0.0
18	67855458	A	G	18	70188222	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon10:c.T1191C:p.G397G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.T1191C:p.G397G;ENSG00000176225:ENST00000583043:exon5:c.T561C:p.G187G;ENSG00000176225:ENST00000255674:exon10:c.T1191C:p.G397G;ENSG00000176225:ENST00000581161:exon10:c.T1191C:p.G397G;ENSG00000176225:ENST00000454359:exon10:c.T1191C:p.G397G;	4.25941128305617E-5	0.004
18	67855458	A	T	18	70188222	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon10:c.T1191A:p.G397G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.T1191A:p.G397G;ENSG00000176225:ENST00000583043:exon5:c.T561A:p.G187G;ENSG00000176225:ENST00000255674:exon10:c.T1191A:p.G397G;ENSG00000176225:ENST00000581161:exon10:c.T1191A:p.G397G;ENSG00000176225:ENST00000454359:exon10:c.T1191A:p.G397G;	1.36729734925444E-4	0.002
18	67855459	C	A	18	70188223	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.G1190T:p.G397V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.G1190T:p.G397V;ENSG00000176225:ENST00000583043:exon5:c.G560T:p.G187V;ENSG00000176225:ENST00000255674:exon10:c.G1190T:p.G397V;ENSG00000176225:ENST00000581161:exon10:c.G1190T:p.G397V;ENSG00000176225:ENST00000454359:exon10:c.G1190T:p.G397V;	0.77005102103151	0.536
18	67855459	C	G	18	70188223	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.G1190C:p.G397A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.G1190C:p.G397A;ENSG00000176225:ENST00000583043:exon5:c.G560C:p.G187A;ENSG00000176225:ENST00000255674:exon10:c.G1190C:p.G397A;ENSG00000176225:ENST00000581161:exon10:c.G1190C:p.G397A;ENSG00000176225:ENST00000454359:exon10:c.G1190C:p.G397A;	0.741515957692633	0.5
18	67855459	C	T	18	70188223	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon10:c.G1190A:p.G397D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon10:c.G1190A:p.G397D;ENSG00000176225:ENST00000583043:exon5:c.G560A:p.G187D;ENSG00000176225:ENST00000255674:exon10:c.G1190A:p.G397D;ENSG00000176225:ENST00000581161:exon10:c.G1190A:p.G397D;ENSG00000176225:ENST00000454359:exon10:c.G1190A:p.G397D;	0.414314496400239	0.554
18	67855460	C	A	18	70188224	y	y	splicing	RTTN(NM_173630:exon11:c.1190-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1190-1G>T;ENST00000583043:exon6:c.560-1G>T;ENST00000454359:exon11:c.1190-1G>T;ENST00000581161:exon11:c.1190-1G>T;ENST00000437017:exon11:c.1190-1G>T)	.	.	0.999985532734767	0.936
18	67855460	C	G	18	70188224	y	y	splicing	RTTN(NM_173630:exon11:c.1190-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1190-1G>C;ENST00000583043:exon6:c.560-1G>C;ENST00000454359:exon11:c.1190-1G>C;ENST00000581161:exon11:c.1190-1G>C;ENST00000437017:exon11:c.1190-1G>C)	.	.	0.999985532734767	0.936
18	67855460	C	T	18	70188224	y	y	splicing	RTTN(NM_173630:exon11:c.1190-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1190-1G>A;ENST00000583043:exon6:c.560-1G>A;ENST00000454359:exon11:c.1190-1G>A;ENST00000581161:exon11:c.1190-1G>A;ENST00000437017:exon11:c.1190-1G>A)	.	.	0.999985532734767	0.93
18	67855461	T	A	18	70188225	y	y	splicing	RTTN(NM_173630:exon11:c.1190-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1190-2A>T;ENST00000583043:exon6:c.560-2A>T;ENST00000454359:exon11:c.1190-2A>T;ENST00000581161:exon11:c.1190-2A>T;ENST00000437017:exon11:c.1190-2A>T)	.	.	0.999988247793601	0.92
18	67855461	T	C	18	70188225	y	y	splicing	RTTN(NM_173630:exon11:c.1190-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1190-2A>G;ENST00000583043:exon6:c.560-2A>G;ENST00000454359:exon11:c.1190-2A>G;ENST00000581161:exon11:c.1190-2A>G;ENST00000437017:exon11:c.1190-2A>G)	.	.	0.999988247793601	0.926
18	67855461	T	G	18	70188225	y	y	splicing	RTTN(NM_173630:exon11:c.1190-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon11:c.1190-2A>C;ENST00000583043:exon6:c.560-2A>C;ENST00000454359:exon11:c.1190-2A>C;ENST00000581161:exon11:c.1190-2A>C;ENST00000437017:exon11:c.1190-2A>C)	.	.	0.999988247793601	0.926
18	67855462	A	C	18	70188226	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996908710376852	0.672
18	67855462	A	G	18	70188226	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.09751740085495E-5	0.008
18	67855462	A	T	18	70188226	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0104196506979396	0.176
18	67855463	G	A	18	70188227	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.53066360789813E-4	0.012
18	67855463	G	C	18	70188227	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.11100351487922E-4	0.028
18	67855463	G	T	18	70188227	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.53066360789813E-4	0.01
18	67855464	G	A	18	70188228	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.21603763709998E-5	0.0
18	67855464	G	C	18	70188228	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.03956462445989E-5	0.014
18	67855464	G	T	18	70188228	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.46332743353598E-5	0.016
18	67855465	A	C	18	70188229	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0240274459650586	0.36
18	67855465	A	G	18	70188229	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.48210136024025E-5	0.012
18	67855465	A	T	18	70188229	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0419050251928953	0.312
18	67855466	A	C	18	70188230	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99934038070119	0.99
18	67855466	A	G	18	70188230	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.16443929120805E-4	0.004
18	67855466	A	T	18	70188230	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.169360519653278	0.44
18	67855467	T	A	18	70188231	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.07692944159724E-5	0.0
18	67855467	T	C	18	70188231	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.30789640849303E-5	0.008
18	67855467	T	G	18	70188231	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.82279922125217E-5	0.0
18	67855468	A	C	18	70188232	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00803051600562731	0.258
18	67855468	A	G	18	70188232	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.4722029260689E-5	0.0
18	67855468	A	T	18	70188232	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.004830581771654	0.198
18	67855469	C	A	18	70188233	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.461379647455E-5	0.012
18	67855469	C	G	18	70188233	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.461379647455E-5	0.0
18	67855469	C	T	18	70188233	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.93628793272484E-5	0.012
18	67855470	A	C	18	70188234	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.325295252317571	0.44
18	67855470	A	G	18	70188234	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0155000846136262	0.22
18	67855470	A	T	18	70188234	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999855948502447	0.928
18	67855471	A	C	18	70188235	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00174842312015116	0.21
18	67855471	A	G	18	70188235	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.35087218869362E-4	0.004
18	67855471	A	T	18	70188235	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00488365096242005	0.23
18	67857766	C	A	18	70190530	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.85916618002775E-4	0.0
18	67857766	C	G	18	70190530	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.66962537278629E-4	0.002
18	67857766	C	T	18	70190530	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.66962537278629E-4	0.0
18	67857767	A	C	18	70190531	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.18356806853963E-5	0.062
18	67857767	A	G	18	70190531	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.15150273304777E-5	0.062
18	67857767	A	T	18	70190531	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.38903674335216E-5	0.058
18	67857768	A	C	18	70190532	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.487777632335403	0.492
18	67857768	A	G	18	70190532	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.873705250162977	0.66
18	67857768	A	T	18	70190532	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.605702610780939	0.598
18	67857769	C	A	18	70190533	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999826054974994	0.838
18	67857769	C	G	18	70190533	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999971590613279	0.868
18	67857769	C	T	18	70190533	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999879992472181	0.912
18	67857770	T	A	18	70190534	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.717817016734033	0.502
18	67857770	T	C	18	70190534	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.715872055133138	0.526
18	67857770	T	G	18	70190534	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.841387638679026	0.43
18	67857771	A	C	18	70190535	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.88011480695083E-4	0.08
18	67857771	A	G	18	70190535	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.04783146696958E-5	0.094
18	67857771	A	T	18	70190535	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.71814489587988E-4	0.138
18	67857772	A	C	18	70190536	y	y	splicing	RTTN(NM_173630:exon10:c.1189+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1189+2T>G;ENST00000583043:exon5:c.559+2T>G;ENST00000454359:exon10:c.1189+2T>G;ENST00000581161:exon10:c.1189+2T>G;ENST00000437017:exon10:c.1189+2T>G)	.	.	0.999989917668626	0.928
18	67857772	A	G	18	70190536	y	y	splicing	RTTN(NM_173630:exon10:c.1189+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1189+2T>C;ENST00000583043:exon5:c.559+2T>C;ENST00000454359:exon10:c.1189+2T>C;ENST00000581161:exon10:c.1189+2T>C;ENST00000437017:exon10:c.1189+2T>C)	.	.	0.993179459523591	0.658
18	67857772	A	T	18	70190536	y	y	splicing	RTTN(NM_173630:exon10:c.1189+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1189+2T>A;ENST00000583043:exon5:c.559+2T>A;ENST00000454359:exon10:c.1189+2T>A;ENST00000581161:exon10:c.1189+2T>A;ENST00000437017:exon10:c.1189+2T>A)	.	.	0.999989917668626	0.928
18	67857773	C	A	18	70190537	y	y	splicing	RTTN(NM_173630:exon10:c.1189+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1189+1G>T;ENST00000583043:exon5:c.559+1G>T;ENST00000454359:exon10:c.1189+1G>T;ENST00000581161:exon10:c.1189+1G>T;ENST00000437017:exon10:c.1189+1G>T)	.	.	0.999981760802075	0.944
18	67857773	C	G	18	70190537	y	y	splicing	RTTN(NM_173630:exon10:c.1189+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1189+1G>C;ENST00000583043:exon5:c.559+1G>C;ENST00000454359:exon10:c.1189+1G>C;ENST00000581161:exon10:c.1189+1G>C;ENST00000437017:exon10:c.1189+1G>C)	.	.	0.999981760802075	0.944
18	67857773	C	T	18	70190537	y	y	splicing	RTTN(NM_173630:exon10:c.1189+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1189+1G>A;ENST00000583043:exon5:c.559+1G>A;ENST00000454359:exon10:c.1189+1G>A;ENST00000581161:exon10:c.1189+1G>A;ENST00000437017:exon10:c.1189+1G>A)	.	.	0.999981760802075	0.944
18	67857774	C	A	18	70190538	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.G1189T:p.G397C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.G1189T:p.G397C;ENSG00000176225:ENST00000583043:exon4:c.G559T:p.G187C;ENSG00000176225:ENST00000255674:exon9:c.G1189T:p.G397C;ENSG00000176225:ENST00000581161:exon9:c.G1189T:p.G397C;ENSG00000176225:ENST00000454359:exon9:c.G1189T:p.G397C;	0.999901205122543	0.964
18	67857774	C	G	18	70190538	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.G1189C:p.G397R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.G1189C:p.G397R;ENSG00000176225:ENST00000583043:exon4:c.G559C:p.G187R;ENSG00000176225:ENST00000255674:exon9:c.G1189C:p.G397R;ENSG00000176225:ENST00000581161:exon9:c.G1189C:p.G397R;ENSG00000176225:ENST00000454359:exon9:c.G1189C:p.G397R;	0.99998767457077	0.998
18	67857774	C	T	18	70190538	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.G1189A:p.G397S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.G1189A:p.G397S;ENSG00000176225:ENST00000583043:exon4:c.G559A:p.G187S;ENSG00000176225:ENST00000255674:exon9:c.G1189A:p.G397S;ENSG00000176225:ENST00000581161:exon9:c.G1189A:p.G397S;ENSG00000176225:ENST00000454359:exon9:c.G1189A:p.G397S;	0.999827065734274	0.994
18	67857775	T	A	18	70190539	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon9:c.A1188T:p.T396T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.A1188T:p.T396T;ENSG00000176225:ENST00000583043:exon4:c.A558T:p.T186T;ENSG00000176225:ENST00000255674:exon9:c.A1188T:p.T396T;ENSG00000176225:ENST00000581161:exon9:c.A1188T:p.T396T;ENSG00000176225:ENST00000454359:exon9:c.A1188T:p.T396T;	0.990260805179202	0.85
18	67857775	T	C	18	70190539	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon9:c.A1188G:p.T396T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.A1188G:p.T396T;ENSG00000176225:ENST00000583043:exon4:c.A558G:p.T186T;ENSG00000176225:ENST00000255674:exon9:c.A1188G:p.T396T;ENSG00000176225:ENST00000581161:exon9:c.A1188G:p.T396T;ENSG00000176225:ENST00000454359:exon9:c.A1188G:p.T396T;	0.994209424437376	0.88
18	67857775	T	G	18	70190539	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon9:c.A1188C:p.T396T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.A1188C:p.T396T;ENSG00000176225:ENST00000583043:exon4:c.A558C:p.T186T;ENSG00000176225:ENST00000255674:exon9:c.A1188C:p.T396T;ENSG00000176225:ENST00000581161:exon9:c.A1188C:p.T396T;ENSG00000176225:ENST00000454359:exon9:c.A1188C:p.T396T;	0.939489376246732	0.742
18	67857776	G	A	18	70190540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.C1187T:p.T396I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.C1187T:p.T396I;ENSG00000176225:ENST00000583043:exon4:c.C557T:p.T186I;ENSG00000176225:ENST00000255674:exon9:c.C1187T:p.T396I;ENSG00000176225:ENST00000581161:exon9:c.C1187T:p.T396I;ENSG00000176225:ENST00000454359:exon9:c.C1187T:p.T396I;	0.991821264324246	0.792
18	67857776	G	C	18	70190540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.C1187G:p.T396R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.C1187G:p.T396R;ENSG00000176225:ENST00000583043:exon4:c.C557G:p.T186R;ENSG00000176225:ENST00000255674:exon9:c.C1187G:p.T396R;ENSG00000176225:ENST00000581161:exon9:c.C1187G:p.T396R;ENSG00000176225:ENST00000454359:exon9:c.C1187G:p.T396R;	0.980775518544969	0.582
18	67857776	G	T	18	70190540	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.C1187A:p.T396K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.C1187A:p.T396K;ENSG00000176225:ENST00000583043:exon4:c.C557A:p.T186K;ENSG00000176225:ENST00000255674:exon9:c.C1187A:p.T396K;ENSG00000176225:ENST00000581161:exon9:c.C1187A:p.T396K;ENSG00000176225:ENST00000454359:exon9:c.C1187A:p.T396K;	0.911595767210304	0.712
18	67857954	C	A	18	70190718	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon9:c.G1009T:p.G337X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon9:c.G1009T:p.G337X;ENSG00000176225:ENST00000583043:exon4:c.G379T:p.G127X;ENSG00000176225:ENST00000255674:exon9:c.G1009T:p.G337X;ENSG00000176225:ENST00000581161:exon9:c.G1009T:p.G337X;ENSG00000176225:ENST00000454359:exon9:c.G1009T:p.G337X;	0.982953079959955	0.898
18	67857954	C	G	18	70190718	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.G1009C:p.G337R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.G1009C:p.G337R;ENSG00000176225:ENST00000583043:exon4:c.G379C:p.G127R;ENSG00000176225:ENST00000255674:exon9:c.G1009C:p.G337R;ENSG00000176225:ENST00000581161:exon9:c.G1009C:p.G337R;ENSG00000176225:ENST00000454359:exon9:c.G1009C:p.G337R;	0.266415103184918	0.274
18	67857954	C	T	18	70190718	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.G1009A:p.G337R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.G1009A:p.G337R;ENSG00000176225:ENST00000583043:exon4:c.G379A:p.G127R;ENSG00000176225:ENST00000255674:exon9:c.G1009A:p.G337R;ENSG00000176225:ENST00000581161:exon9:c.G1009A:p.G337R;ENSG00000176225:ENST00000454359:exon9:c.G1009A:p.G337R;	0.666926307778403	0.464
18	67857955	A	C	18	70190719	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.T1008G:p.S336R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.T1008G:p.S336R;ENSG00000176225:ENST00000583043:exon4:c.T378G:p.S126R;ENSG00000176225:ENST00000255674:exon9:c.T1008G:p.S336R;ENSG00000176225:ENST00000581161:exon9:c.T1008G:p.S336R;ENSG00000176225:ENST00000454359:exon9:c.T1008G:p.S336R;	9.94326283446387E-5	0.208
18	67857955	A	G	18	70190719	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon9:c.T1008C:p.S336S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.T1008C:p.S336S;ENSG00000176225:ENST00000583043:exon4:c.T378C:p.S126S;ENSG00000176225:ENST00000255674:exon9:c.T1008C:p.S336S;ENSG00000176225:ENST00000581161:exon9:c.T1008C:p.S336S;ENSG00000176225:ENST00000454359:exon9:c.T1008C:p.S336S;	7.15109044621048E-4	0.27
18	67857955	A	T	18	70190719	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon9:c.T1008A:p.S336R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon9:c.T1008A:p.S336R;ENSG00000176225:ENST00000583043:exon4:c.T378A:p.S126R;ENSG00000176225:ENST00000255674:exon9:c.T1008A:p.S336R;ENSG00000176225:ENST00000581161:exon9:c.T1008A:p.S336R;ENSG00000176225:ENST00000454359:exon9:c.T1008A:p.S336R;	2.92892688743207E-5	0.004
18	67857956	C	A	18	70190720	y	y	splicing	RTTN(NM_173630:exon10:c.1008-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1008-1G>T;ENST00000583043:exon5:c.378-1G>T;ENST00000454359:exon10:c.1008-1G>T;ENST00000581161:exon10:c.1008-1G>T;ENST00000437017:exon10:c.1008-1G>T)	.	.	0.999979422316293	0.95
18	67857956	C	G	18	70190720	y	y	splicing	RTTN(NM_173630:exon10:c.1008-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1008-1G>C;ENST00000583043:exon5:c.378-1G>C;ENST00000454359:exon10:c.1008-1G>C;ENST00000581161:exon10:c.1008-1G>C;ENST00000437017:exon10:c.1008-1G>C)	.	.	0.999979422316293	0.95
18	67857956	C	T	18	70190720	y	y	splicing	RTTN(NM_173630:exon10:c.1008-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1008-1G>A;ENST00000583043:exon5:c.378-1G>A;ENST00000454359:exon10:c.1008-1G>A;ENST00000581161:exon10:c.1008-1G>A;ENST00000437017:exon10:c.1008-1G>A)	.	.	0.999979422316293	0.95
18	67857957	T	A	18	70190721	y	y	splicing	RTTN(NM_173630:exon10:c.1008-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1008-2A>T;ENST00000583043:exon5:c.378-2A>T;ENST00000454359:exon10:c.1008-2A>T;ENST00000581161:exon10:c.1008-2A>T;ENST00000437017:exon10:c.1008-2A>T)	.	.	0.999988624979899	0.944
18	67857957	T	C	18	70190721	y	y	splicing	RTTN(NM_173630:exon10:c.1008-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1008-2A>G;ENST00000583043:exon5:c.378-2A>G;ENST00000454359:exon10:c.1008-2A>G;ENST00000581161:exon10:c.1008-2A>G;ENST00000437017:exon10:c.1008-2A>G)	.	.	0.999988624979899	0.944
18	67857957	T	G	18	70190721	y	y	splicing	RTTN(NM_173630:exon10:c.1008-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon10:c.1008-2A>C;ENST00000583043:exon5:c.378-2A>C;ENST00000454359:exon10:c.1008-2A>C;ENST00000581161:exon10:c.1008-2A>C;ENST00000437017:exon10:c.1008-2A>C)	.	.	0.999988624979899	0.944
18	67857958	G	A	18	70190722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0605049331043972	0.416
18	67857958	G	C	18	70190722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999792201200078	0.968
18	67857958	G	T	18	70190722	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.972485580116821	0.728
18	67857959	C	A	18	70190723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.08124463854709E-5	0.028
18	67857959	C	G	18	70190723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.21100713377999E-5	0.008
18	67857959	C	T	18	70190723	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.6489102029401E-5	0.02
18	67857960	A	C	18	70190724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.989058226432582	0.754
18	67857960	A	G	18	70190724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.78990979152857E-4	0.15
18	67857960	A	T	18	70190724	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999878619900334	0.972
18	67857961	A	C	18	70190725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.994522372016136	0.882
18	67857961	A	G	18	70190725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0404028699796686	0.45
18	67857961	A	T	18	70190725	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99665212100719	0.856
18	67857962	G	A	18	70190726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.17053659274806E-5	0.028
18	67857962	G	C	18	70190726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00519408617470786	0.106
18	67857962	G	T	18	70190726	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00481035848244927	0.178
18	67857963	A	C	18	70190727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999905157806989	0.896
18	67857963	A	G	18	70190727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.16009464516202E-4	0.068
18	67857963	A	T	18	70190727	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.011677012588871	0.206
18	67857964	T	A	18	70190728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.18845123544822E-6	0.028
18	67857964	T	C	18	70190728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.14336945622717E-5	0.018
18	67857964	T	G	18	70190728	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.71358849170046E-6	0.034
18	67857965	A	C	18	70190729	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.825708686043628	0.574
18	67857965	A	G	18	70190729	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.7640328722271E-4	0.108
18	67857965	A	T	18	70190729	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.923425150882908	0.604
18	67857966	A	C	18	70190730	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.971889902024637	0.594
18	67857966	A	G	18	70190730	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00188002728530859	0.188
18	67857966	A	T	18	70190730	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.972760327843923	0.602
18	67857967	A	C	18	70190731	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.839936359930801	0.588
18	67857967	A	G	18	70190731	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.0550260211699E-4	0.068
18	67857967	A	T	18	70190731	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.864115901631799	0.586
18	67860516	G	A	18	70193280	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.53929084429736E-6	0.0
18	67860516	G	C	18	70193280	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.89824988648495E-4	0.008
18	67860516	G	T	18	70193280	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.53929084429736E-6	0.0
18	67860517	C	A	18	70193281	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.75614044427728E-4	0.038
18	67860517	C	G	18	70193281	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.20707317516946E-5	0.002
18	67860517	C	T	18	70193281	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.20707317516946E-5	0.0
18	67860518	A	C	18	70193282	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.13616846257655E-4	0.22
18	67860518	A	G	18	70193282	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00498027675439771	0.28
18	67860518	A	T	18	70193282	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.40979507724223	0.532
18	67860519	G	A	18	70193283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.48121661008496E-5	0.002
18	67860519	G	C	18	70193283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.03709695543093E-4	0.084
18	67860519	G	T	18	70193283	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.34400290345001E-5	0.01
18	67860520	T	A	18	70193284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.992586824169103	0.634
18	67860520	T	C	18	70193284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.991051848148627	0.63
18	67860520	T	G	18	70193284	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.931624718642915	0.616
18	67860521	C	A	18	70193285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.7294085739539	0.488
18	67860521	C	G	18	70193285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.814487046087812	0.506
18	67860521	C	T	18	70193285	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.186514236066E-5	0.06
18	67860522	A	C	18	70193286	y	y	splicing	RTTN(NM_173630:exon9:c.1007+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.1007+2T>G;ENST00000583043:exon4:c.377+2T>G;ENST00000454359:exon9:c.1007+2T>G;ENST00000581161:exon9:c.1007+2T>G;ENST00000437017:exon9:c.1007+2T>G)	.	.	0.999973685260467	0.954
18	67860522	A	G	18	70193286	y	y	splicing	RTTN(NM_173630:exon9:c.1007+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.1007+2T>C;ENST00000583043:exon4:c.377+2T>C;ENST00000454359:exon9:c.1007+2T>C;ENST00000581161:exon9:c.1007+2T>C;ENST00000437017:exon9:c.1007+2T>C)	.	.	0.999890574495829	0.926
18	67860522	A	T	18	70193286	y	y	splicing	RTTN(NM_173630:exon9:c.1007+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.1007+2T>A;ENST00000583043:exon4:c.377+2T>A;ENST00000454359:exon9:c.1007+2T>A;ENST00000581161:exon9:c.1007+2T>A;ENST00000437017:exon9:c.1007+2T>A)	.	.	0.999973685260467	0.956
18	67860523	C	A	18	70193287	y	y	splicing	RTTN(NM_173630:exon9:c.1007+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.1007+1G>T;ENST00000583043:exon4:c.377+1G>T;ENST00000454359:exon9:c.1007+1G>T;ENST00000581161:exon9:c.1007+1G>T;ENST00000437017:exon9:c.1007+1G>T)	.	.	0.999951608398927	0.952
18	67860523	C	G	18	70193287	y	y	splicing	RTTN(NM_173630:exon9:c.1007+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.1007+1G>C;ENST00000583043:exon4:c.377+1G>C;ENST00000454359:exon9:c.1007+1G>C;ENST00000581161:exon9:c.1007+1G>C;ENST00000437017:exon9:c.1007+1G>C)	.	.	0.999951608398927	0.956
18	67860523	C	T	18	70193287	y	y	splicing	RTTN(NM_173630:exon9:c.1007+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.1007+1G>A;ENST00000583043:exon4:c.377+1G>A;ENST00000454359:exon9:c.1007+1G>A;ENST00000581161:exon9:c.1007+1G>A;ENST00000437017:exon9:c.1007+1G>A)	.	.	0.999951608398927	0.952
18	67860524	C	A	18	70193288	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.G1007T:p.S336I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.G1007T:p.S336I;ENSG00000176225:ENST00000583043:exon3:c.G377T:p.S126I;ENSG00000176225:ENST00000255674:exon8:c.G1007T:p.S336I;ENSG00000176225:ENST00000581161:exon8:c.G1007T:p.S336I;ENSG00000176225:ENST00000454359:exon8:c.G1007T:p.S336I;	0.999961789013993	0.986
18	67860524	C	G	18	70193288	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.G1007C:p.S336T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.G1007C:p.S336T;ENSG00000176225:ENST00000583043:exon3:c.G377C:p.S126T;ENSG00000176225:ENST00000255674:exon8:c.G1007C:p.S336T;ENSG00000176225:ENST00000581161:exon8:c.G1007C:p.S336T;ENSG00000176225:ENST00000454359:exon8:c.G1007C:p.S336T;	0.99997936339378	0.972
18	67860524	C	T	18	70193288	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.G1007A:p.S336N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.G1007A:p.S336N;ENSG00000176225:ENST00000583043:exon3:c.G377A:p.S126N;ENSG00000176225:ENST00000255674:exon8:c.G1007A:p.S336N;ENSG00000176225:ENST00000581161:exon8:c.G1007A:p.S336N;ENSG00000176225:ENST00000454359:exon8:c.G1007A:p.S336N;	0.999993359424199	0.986
18	67860525	T	A	18	70193289	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.A1006T:p.S336C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.A1006T:p.S336C;ENSG00000176225:ENST00000583043:exon3:c.A376T:p.S126C;ENSG00000176225:ENST00000255674:exon8:c.A1006T:p.S336C;ENSG00000176225:ENST00000581161:exon8:c.A1006T:p.S336C;ENSG00000176225:ENST00000454359:exon8:c.A1006T:p.S336C;	0.999416182344484	0.746
18	67860525	T	C	18	70193289	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.A1006G:p.S336G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.A1006G:p.S336G;ENSG00000176225:ENST00000583043:exon3:c.A376G:p.S126G;ENSG00000176225:ENST00000255674:exon8:c.A1006G:p.S336G;ENSG00000176225:ENST00000581161:exon8:c.A1006G:p.S336G;ENSG00000176225:ENST00000454359:exon8:c.A1006G:p.S336G;	0.999657429483294	0.832
18	67860525	T	G	18	70193289	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.A1006C:p.S336R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.A1006C:p.S336R;ENSG00000176225:ENST00000583043:exon3:c.A376C:p.S126R;ENSG00000176225:ENST00000255674:exon8:c.A1006C:p.S336R;ENSG00000176225:ENST00000581161:exon8:c.A1006C:p.S336R;ENSG00000176225:ENST00000454359:exon8:c.A1006C:p.S336R;	0.842637837607635	0.76
18	67860526	A	C	18	70193290	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon8:c.T1005G:p.S335S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.T1005G:p.S335S;ENSG00000176225:ENST00000583043:exon3:c.T375G:p.S125S;ENSG00000176225:ENST00000255674:exon8:c.T1005G:p.S335S;ENSG00000176225:ENST00000581161:exon8:c.T1005G:p.S335S;ENSG00000176225:ENST00000454359:exon8:c.T1005G:p.S335S;	4.85723158080305E-5	0.04
18	67860526	A	G	18	70193290	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon8:c.T1005C:p.S335S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.T1005C:p.S335S;ENSG00000176225:ENST00000583043:exon3:c.T375C:p.S125S;ENSG00000176225:ENST00000255674:exon8:c.T1005C:p.S335S;ENSG00000176225:ENST00000581161:exon8:c.T1005C:p.S335S;ENSG00000176225:ENST00000454359:exon8:c.T1005C:p.S335S;	2.08944676522205E-5	0.014
18	67860526	A	T	18	70193290	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon8:c.T1005A:p.S335S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.T1005A:p.S335S;ENSG00000176225:ENST00000583043:exon3:c.T375A:p.S125S;ENSG00000176225:ENST00000255674:exon8:c.T1005A:p.S335S;ENSG00000176225:ENST00000581161:exon8:c.T1005A:p.S335S;ENSG00000176225:ENST00000454359:exon8:c.T1005A:p.S335S;	2.12612965211358E-5	0.008
18	67860688	G	A	18	70193452	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon8:c.C843T:p.D281D;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.C843T:p.D281D;ENSG00000176225:ENST00000583043:exon3:c.C213T:p.D71D;ENSG00000176225:ENST00000255674:exon8:c.C843T:p.D281D;ENSG00000176225:ENST00000581161:exon8:c.C843T:p.D281D;ENSG00000176225:ENST00000454359:exon8:c.C843T:p.D281D;	7.40173270250616E-6	0.0
18	67860688	G	C	18	70193452	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.C843G:p.D281E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.C843G:p.D281E;ENSG00000176225:ENST00000583043:exon3:c.C213G:p.D71E;ENSG00000176225:ENST00000255674:exon8:c.C843G:p.D281E;ENSG00000176225:ENST00000581161:exon8:c.C843G:p.D281E;ENSG00000176225:ENST00000454359:exon8:c.C843G:p.D281E;	1.58067932214739E-5	0.0
18	67860688	G	T	18	70193452	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.C843A:p.D281E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.C843A:p.D281E;ENSG00000176225:ENST00000583043:exon3:c.C213A:p.D71E;ENSG00000176225:ENST00000255674:exon8:c.C843A:p.D281E;ENSG00000176225:ENST00000581161:exon8:c.C843A:p.D281E;ENSG00000176225:ENST00000454359:exon8:c.C843A:p.D281E;	4.12306417257468E-5	0.002
18	67860689	T	A	18	70193453	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.A842T:p.D281V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.A842T:p.D281V;ENSG00000176225:ENST00000583043:exon3:c.A212T:p.D71V;ENSG00000176225:ENST00000255674:exon8:c.A842T:p.D281V;ENSG00000176225:ENST00000581161:exon8:c.A842T:p.D281V;ENSG00000176225:ENST00000454359:exon8:c.A842T:p.D281V;	5.84599832839127E-4	0.072
18	67860689	T	C	18	70193453	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.A842G:p.D281G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.A842G:p.D281G;ENSG00000176225:ENST00000583043:exon3:c.A212G:p.D71G;ENSG00000176225:ENST00000255674:exon8:c.A842G:p.D281G;ENSG00000176225:ENST00000581161:exon8:c.A842G:p.D281G;ENSG00000176225:ENST00000454359:exon8:c.A842G:p.D281G;	4.65551271052508E-4	0.016
18	67860689	T	G	18	70193453	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon8:c.A842C:p.D281A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon8:c.A842C:p.D281A;ENSG00000176225:ENST00000583043:exon3:c.A212C:p.D71A;ENSG00000176225:ENST00000255674:exon8:c.A842C:p.D281A;ENSG00000176225:ENST00000581161:exon8:c.A842C:p.D281A;ENSG00000176225:ENST00000454359:exon8:c.A842C:p.D281A;	7.03198634780437E-4	0.11
18	67860690	C	A	18	70193454	y	y	splicing	RTTN(NM_173630:exon9:c.842-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.842-1G>T;ENST00000583043:exon4:c.212-1G>T;ENST00000454359:exon9:c.842-1G>T;ENST00000581161:exon9:c.842-1G>T;ENST00000437017:exon9:c.842-1G>T)	.	.	0.999969242257053	0.896
18	67860690	C	G	18	70193454	y	y	splicing	RTTN(NM_173630:exon9:c.842-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.842-1G>C;ENST00000583043:exon4:c.212-1G>C;ENST00000454359:exon9:c.842-1G>C;ENST00000581161:exon9:c.842-1G>C;ENST00000437017:exon9:c.842-1G>C)	.	.	0.999968430223941	0.87
18	67860690	C	T	18	70193454	y	y	splicing	RTTN(NM_173630:exon9:c.842-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.842-1G>A;ENST00000583043:exon4:c.212-1G>A;ENST00000454359:exon9:c.842-1G>A;ENST00000581161:exon9:c.842-1G>A;ENST00000437017:exon9:c.842-1G>A)	.	.	0.99996748057446	0.908
18	67860691	T	A	18	70193455	y	y	splicing	RTTN(NM_173630:exon9:c.842-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.842-2A>T;ENST00000583043:exon4:c.212-2A>T;ENST00000454359:exon9:c.842-2A>T;ENST00000581161:exon9:c.842-2A>T;ENST00000437017:exon9:c.842-2A>T)	.	.	0.999969255906173	0.848
18	67860691	T	C	18	70193455	y	y	splicing	RTTN(NM_173630:exon9:c.842-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.842-2A>G;ENST00000583043:exon4:c.212-2A>G;ENST00000454359:exon9:c.842-2A>G;ENST00000581161:exon9:c.842-2A>G;ENST00000437017:exon9:c.842-2A>G)	.	.	0.999969255906173	0.842
18	67860691	T	G	18	70193455	y	y	splicing	RTTN(NM_173630:exon9:c.842-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon9:c.842-2A>C;ENST00000583043:exon4:c.212-2A>C;ENST00000454359:exon9:c.842-2A>C;ENST00000581161:exon9:c.842-2A>C;ENST00000437017:exon9:c.842-2A>C)	.	.	0.999969255906173	0.842
18	67860692	G	A	18	70193456	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.10650103959418E-4	0.076
18	67860692	G	C	18	70193456	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999498507140503	0.914
18	67860692	G	T	18	70193456	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.565276780078969	0.546
18	67860693	G	A	18	70193457	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.17331722546353E-5	0.002
18	67860693	G	C	18	70193457	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.98163458267061E-5	0.0
18	67860693	G	T	18	70193457	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.90982069362148E-5	0.0
18	67860694	G	A	18	70193458	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.2249232936004E-5	0.004
18	67860694	G	C	18	70193458	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.08403977502872E-4	0.096
18	67860694	G	T	18	70193458	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.07434830602323E-5	0.006
18	67860695	G	A	18	70193459	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.61682033399377E-5	0.0
18	67860695	G	C	18	70193459	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00127986007095646	0.076
18	67860695	G	T	18	70193459	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00134908320389436	0.05
18	67860696	A	C	18	70193460	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.24647586259337E-4	0.062
18	67860696	A	G	18	70193460	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.52966357315238E-5	0.002
18	67860696	A	T	18	70193460	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.82347761554418E-4	0.048
18	67860697	A	C	18	70193461	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.09398764222347E-5	0.038
18	67860697	A	G	18	70193461	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.92867234081305E-5	0.0
18	67860697	A	T	18	70193461	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.04461741245912E-5	0.022
18	67860698	A	C	18	70193462	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.49840183298047E-4	0.07
18	67860698	A	G	18	70193462	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.58276610711213E-4	0.002
18	67860698	A	T	18	70193462	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.54689107037988E-4	0.1
18	67860699	C	A	18	70193463	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.61179478252125E-5	0.0
18	67860699	C	G	18	70193463	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.49181161642187E-5	0.078
18	67860699	C	T	18	70193463	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.35166034017395E-4	0.098
18	67860700	A	C	18	70193464	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.44934801654067E-4	0.108
18	67860700	A	G	18	70193464	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.41461963864083E-5	0.052
18	67860700	A	T	18	70193464	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999867696184158	0.92
18	67860701	A	C	18	70193465	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.48833534946396E-5	0.072
18	67860701	A	G	18	70193465	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.8701536537737E-5	0.008
18	67860701	A	T	18	70193465	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.36467594476642E-4	0.052
18	67863729	A	C	18	70196493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00163817896145619	0.23
18	67863729	A	G	18	70196493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.28774322439936E-4	0.008
18	67863729	A	T	18	70196493	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.11502849558313E-4	0.198
18	67863730	T	A	18	70196494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.64126100096413E-4	0.068
18	67863730	T	C	18	70196494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.23113328195016E-4	0.066
18	67863730	T	G	18	70196494	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.26473499995288E-4	0.024
18	67863731	A	C	18	70196495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00746409282253426	0.32
18	67863731	A	G	18	70196495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.812394323221439	0.636
18	67863731	A	T	18	70196495	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0714217525238549	0.526
18	67863732	A	C	18	70196496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00322564037360324	0.178
18	67863732	A	G	18	70196496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00258911255979756	0.05
18	67863732	A	T	18	70196496	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00510065485367598	0.114
18	67863733	A	C	18	70196497	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.1193872539232E-4	0.084
18	67863733	A	G	18	70196497	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.13349511061276E-4	0.264
18	67863733	A	T	18	70196497	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.24032637974314E-4	0.084
18	67863734	T	A	18	70196498	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99992406846781	0.902
18	67863734	T	C	18	70196498	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998835692434898	0.87
18	67863734	T	G	18	70196498	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999942800269617	0.902
18	67863735	A	C	18	70196499	y	y	splicing	RTTN(NM_173630:exon8:c.841+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.841+2T>G;ENST00000583043:exon3:c.211+2T>G;ENST00000454359:exon8:c.841+2T>G;ENST00000581161:exon8:c.841+2T>G;ENST00000437017:exon8:c.841+2T>G)	.	.	0.999988624979899	0.944
18	67863735	A	G	18	70196499	y	y	splicing	RTTN(NM_173630:exon8:c.841+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.841+2T>C;ENST00000583043:exon3:c.211+2T>C;ENST00000454359:exon8:c.841+2T>C;ENST00000581161:exon8:c.841+2T>C;ENST00000437017:exon8:c.841+2T>C)	.	.	0.990276209003943	0.628
18	67863735	A	T	18	70196499	y	y	splicing	RTTN(NM_173630:exon8:c.841+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.841+2T>A;ENST00000583043:exon3:c.211+2T>A;ENST00000454359:exon8:c.841+2T>A;ENST00000581161:exon8:c.841+2T>A;ENST00000437017:exon8:c.841+2T>A)	.	.	0.999988624979899	0.944
18	67863736	C	A	18	70196500	y	y	splicing	RTTN(NM_173630:exon8:c.841+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.841+1G>T;ENST00000583043:exon3:c.211+1G>T;ENST00000454359:exon8:c.841+1G>T;ENST00000581161:exon8:c.841+1G>T;ENST00000437017:exon8:c.841+1G>T)	.	.	0.999979422316293	0.952
18	67863736	C	G	18	70196500	y	y	splicing	RTTN(NM_173630:exon8:c.841+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.841+1G>C;ENST00000583043:exon3:c.211+1G>C;ENST00000454359:exon8:c.841+1G>C;ENST00000581161:exon8:c.841+1G>C;ENST00000437017:exon8:c.841+1G>C)	.	.	0.999979422316293	0.944
18	67863736	C	T	18	70196500	y	y	splicing	RTTN(NM_173630:exon8:c.841+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.841+1G>A;ENST00000583043:exon3:c.211+1G>A;ENST00000454359:exon8:c.841+1G>A;ENST00000581161:exon8:c.841+1G>A;ENST00000437017:exon8:c.841+1G>A)	.	.	0.999979422316293	0.952
18	67863737	C	A	18	70196501	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.G841T:p.D281Y;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.G841T:p.D281Y;ENSG00000176225:ENST00000583043:exon2:c.G211T:p.D71Y;ENSG00000176225:ENST00000255674:exon7:c.G841T:p.D281Y;ENSG00000176225:ENST00000581161:exon7:c.G841T:p.D281Y;ENSG00000176225:ENST00000454359:exon7:c.G841T:p.D281Y;	0.999967173228023	0.994
18	67863737	C	G	18	70196501	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.G841C:p.D281H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.G841C:p.D281H;ENSG00000176225:ENST00000583043:exon2:c.G211C:p.D71H;ENSG00000176225:ENST00000255674:exon7:c.G841C:p.D281H;ENSG00000176225:ENST00000581161:exon7:c.G841C:p.D281H;ENSG00000176225:ENST00000454359:exon7:c.G841C:p.D281H;	0.999972501604279	0.988
18	67863737	C	T	18	70196501	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.G841A:p.D281N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.G841A:p.D281N;ENSG00000176225:ENST00000583043:exon2:c.G211A:p.D71N;ENSG00000176225:ENST00000255674:exon7:c.G841A:p.D281N;ENSG00000176225:ENST00000581161:exon7:c.G841A:p.D281N;ENSG00000176225:ENST00000454359:exon7:c.G841A:p.D281N;	0.999993471636674	0.998
18	67863738	G	A	18	70196502	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon7:c.C840T:p.H280H;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.C840T:p.H280H;ENSG00000176225:ENST00000583043:exon2:c.C210T:p.H70H;ENSG00000176225:ENST00000255674:exon7:c.C840T:p.H280H;ENSG00000176225:ENST00000581161:exon7:c.C840T:p.H280H;ENSG00000176225:ENST00000454359:exon7:c.C840T:p.H280H;	0.00369412252848281	0.074
18	67863738	G	C	18	70196502	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.C840G:p.H280Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.C840G:p.H280Q;ENSG00000176225:ENST00000583043:exon2:c.C210G:p.H70Q;ENSG00000176225:ENST00000255674:exon7:c.C840G:p.H280Q;ENSG00000176225:ENST00000581161:exon7:c.C840G:p.H280Q;ENSG00000176225:ENST00000454359:exon7:c.C840G:p.H280Q;	0.0013008022346717	0.062
18	67863738	G	T	18	70196502	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.C840A:p.H280Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.C840A:p.H280Q;ENSG00000176225:ENST00000583043:exon2:c.C210A:p.H70Q;ENSG00000176225:ENST00000255674:exon7:c.C840A:p.H280Q;ENSG00000176225:ENST00000581161:exon7:c.C840A:p.H280Q;ENSG00000176225:ENST00000454359:exon7:c.C840A:p.H280Q;	6.38084557162897E-4	0.124
18	67863739	T	A	18	70196503	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.A839T:p.H280L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.A839T:p.H280L;ENSG00000176225:ENST00000583043:exon2:c.A209T:p.H70L;ENSG00000176225:ENST00000255674:exon7:c.A839T:p.H280L;ENSG00000176225:ENST00000581161:exon7:c.A839T:p.H280L;ENSG00000176225:ENST00000454359:exon7:c.A839T:p.H280L;	0.964735550121002	0.642
18	67863739	T	C	18	70196503	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.A839G:p.H280R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.A839G:p.H280R;ENSG00000176225:ENST00000583043:exon2:c.A209G:p.H70R;ENSG00000176225:ENST00000255674:exon7:c.A839G:p.H280R;ENSG00000176225:ENST00000581161:exon7:c.A839G:p.H280R;ENSG00000176225:ENST00000454359:exon7:c.A839G:p.H280R;	0.0646311505373355	0.182
18	67863739	T	G	18	70196503	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.A839C:p.H280P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.A839C:p.H280P;ENSG00000176225:ENST00000583043:exon2:c.A209C:p.H70P;ENSG00000176225:ENST00000255674:exon7:c.A839C:p.H280P;ENSG00000176225:ENST00000581161:exon7:c.A839C:p.H280P;ENSG00000176225:ENST00000454359:exon7:c.A839C:p.H280P;	0.00160357595579158	0.096
18	67863883	C	A	18	70196647	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.G695T:p.S232I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.G695T:p.S232I;ENSG00000176225:ENST00000583043:exon2:c.G65T:p.S22I;ENSG00000176225:ENST00000255674:exon7:c.G695T:p.S232I;ENSG00000176225:ENST00000581161:exon7:c.G695T:p.S232I;ENSG00000176225:ENST00000454359:exon7:c.G695T:p.S232I;	1.38606210344696E-4	0.004
18	67863883	C	G	18	70196647	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.G695C:p.S232T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.G695C:p.S232T;ENSG00000176225:ENST00000583043:exon2:c.G65C:p.S22T;ENSG00000176225:ENST00000255674:exon7:c.G695C:p.S232T;ENSG00000176225:ENST00000581161:exon7:c.G695C:p.S232T;ENSG00000176225:ENST00000454359:exon7:c.G695C:p.S232T;	1.34647090763731E-4	0.018
18	67863883	C	T	18	70196647	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.G695A:p.S232N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.G695A:p.S232N;ENSG00000176225:ENST00000583043:exon2:c.G65A:p.S22N;ENSG00000176225:ENST00000255674:exon7:c.G695A:p.S232N;ENSG00000176225:ENST00000581161:exon7:c.G695A:p.S232N;ENSG00000176225:ENST00000454359:exon7:c.G695A:p.S232N;	9.29867894875885E-5	0.02
18	67863884	T	A	18	70196648	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.A694T:p.S232C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.A694T:p.S232C;ENSG00000176225:ENST00000583043:exon2:c.A64T:p.S22C;ENSG00000176225:ENST00000255674:exon7:c.A694T:p.S232C;ENSG00000176225:ENST00000581161:exon7:c.A694T:p.S232C;ENSG00000176225:ENST00000454359:exon7:c.A694T:p.S232C;	0.0140908434027534	0.12
18	67863884	T	C	18	70196648	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.A694G:p.S232G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.A694G:p.S232G;ENSG00000176225:ENST00000583043:exon2:c.A64G:p.S22G;ENSG00000176225:ENST00000255674:exon7:c.A694G:p.S232G;ENSG00000176225:ENST00000581161:exon7:c.A694G:p.S232G;ENSG00000176225:ENST00000454359:exon7:c.A694G:p.S232G;	1.32485349505863E-4	0.004
18	67863884	T	G	18	70196648	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon7:c.A694C:p.S232R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon7:c.A694C:p.S232R;ENSG00000176225:ENST00000583043:exon2:c.A64C:p.S22R;ENSG00000176225:ENST00000255674:exon7:c.A694C:p.S232R;ENSG00000176225:ENST00000581161:exon7:c.A694C:p.S232R;ENSG00000176225:ENST00000454359:exon7:c.A694C:p.S232R;	0.00544717392718449	0.09
18	67863885	C	A	18	70196649	y	y	splicing	RTTN(NM_173630:exon8:c.694-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.694-1G>T;ENST00000583043:exon3:c.64-1G>T;ENST00000454359:exon8:c.694-1G>T;ENST00000581161:exon8:c.694-1G>T;ENST00000437017:exon8:c.694-1G>T)	.	.	0.999981760802075	0.95
18	67863885	C	G	18	70196649	y	y	splicing	RTTN(NM_173630:exon8:c.694-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.694-1G>C;ENST00000583043:exon3:c.64-1G>C;ENST00000454359:exon8:c.694-1G>C;ENST00000581161:exon8:c.694-1G>C;ENST00000437017:exon8:c.694-1G>C)	.	.	0.999981760802075	0.95
18	67863885	C	T	18	70196649	y	y	splicing	RTTN(NM_173630:exon8:c.694-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.694-1G>A;ENST00000583043:exon3:c.64-1G>A;ENST00000454359:exon8:c.694-1G>A;ENST00000581161:exon8:c.694-1G>A;ENST00000437017:exon8:c.694-1G>A)	.	.	0.999981760802075	0.95
18	67863886	T	A	18	70196650	y	y	splicing	RTTN(NM_173630:exon8:c.694-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.694-2A>T;ENST00000583043:exon3:c.64-2A>T;ENST00000454359:exon8:c.694-2A>T;ENST00000581161:exon8:c.694-2A>T;ENST00000437017:exon8:c.694-2A>T)	.	.	0.999989917668626	0.936
18	67863886	T	C	18	70196650	y	y	splicing	RTTN(NM_173630:exon8:c.694-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.694-2A>G;ENST00000583043:exon3:c.64-2A>G;ENST00000454359:exon8:c.694-2A>G;ENST00000581161:exon8:c.694-2A>G;ENST00000437017:exon8:c.694-2A>G)	.	.	0.999989917668626	0.934
18	67863886	T	G	18	70196650	y	y	splicing	RTTN(NM_173630:exon8:c.694-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon8:c.694-2A>C;ENST00000583043:exon3:c.64-2A>C;ENST00000454359:exon8:c.694-2A>C;ENST00000581161:exon8:c.694-2A>C;ENST00000437017:exon8:c.694-2A>C)	.	.	0.999989917668626	0.934
18	67863887	G	A	18	70196651	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0421536640532342	0.156
18	67863887	G	C	18	70196651	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999910359017825	0.98
18	67863887	G	T	18	70196651	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996860441507721	0.918
18	67863888	A	C	18	70196652	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0012747057503181	0.172
18	67863888	A	G	18	70196652	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.21502633613358E-4	0.026
18	67863888	A	T	18	70196652	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00136367070539663	0.044
18	67863889	A	C	18	70196653	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.971158493735326	0.586
18	67863889	A	G	18	70196653	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.80152874439333E-4	0.028
18	67863889	A	T	18	70196653	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.946982917749033	0.542
18	67863890	A	C	18	70196654	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999977203473876	0.982
18	67863890	A	G	18	70196654	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.48461794653611E-4	0.12
18	67863890	A	T	18	70196654	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.108826248926557	0.448
18	67863891	T	A	18	70196655	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.60535432194514E-5	0.004
18	67863891	T	C	18	70196655	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.84758038040438E-5	0.002
18	67863891	T	G	18	70196655	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.58915040796344E-5	0.01
18	67863892	C	A	18	70196656	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.58008188215659E-5	0.0
18	67863892	C	G	18	70196656	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.57298021479049E-5	0.0
18	67863892	C	T	18	70196656	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.46893662694057E-4	0.002
18	67863893	A	C	18	70196657	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00644623248022879	0.124
18	67863893	A	G	18	70196657	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.32259867932231E-4	0.012
18	67863893	A	T	18	70196657	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999636955971308	0.982
18	67863894	A	C	18	70196658	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00713306831767484	0.35
18	67863894	A	G	18	70196658	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.26362005908379E-4	0.056
18	67863894	A	T	18	70196658	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0139908095873865	0.294
18	67863895	G	A	18	70196659	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.56227402875007E-5	0.002
18	67863895	G	C	18	70196659	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.94952842691468E-4	0.012
18	67863895	G	T	18	70196659	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.66046424713517E-4	0.06
18	67863896	A	C	18	70196660	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0265301772687325	0.294
18	67863896	A	G	18	70196660	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.12228926978093E-5	0.016
18	67863896	A	T	18	70196660	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.041286493200826	0.286
18	67864852	G	A	18	70197616	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.81081214415982E-4	0.006
18	67864852	G	C	18	70197616	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.75423416385921E-4	0.086
18	67864852	G	T	18	70197616	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.81081214415982E-4	0.002
18	67864853	C	A	18	70197617	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.77150479054831E-4	0.002
18	67864853	C	G	18	70197617	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.46535800631387E-5	0.0
18	67864853	C	T	18	70197617	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.55410418771981E-5	0.0
18	67864854	A	C	18	70197618	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0189362869412339	0.222
18	67864854	A	G	18	70197618	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.121834602370002	0.278
18	67864854	A	T	18	70197618	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0739116022638916	0.214
18	67864855	C	A	18	70197619	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.997353182485231	0.834
18	67864855	C	G	18	70197619	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.988393425666382	0.708
18	67864855	C	T	18	70197619	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.996501135857646	0.88
18	67864856	T	A	18	70197620	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.187380414174142	0.364
18	67864856	T	C	18	70197620	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0435394156866926	0.284
18	67864856	T	G	18	70197620	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.407696093074182	0.416
18	67864857	G	A	18	70197621	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.1904692386984E-4	0.002
18	67864857	G	C	18	70197621	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.12016817478372E-4	0.04
18	67864857	G	T	18	70197621	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.44247763655807E-4	0.034
18	67864858	A	C	18	70197622	y	y	splicing	RTTN(NM_173630:exon7:c.693+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.693+2T>G;ENST00000583043:exon2:c.63+2T>G;ENST00000454359:exon7:c.693+2T>G;ENST00000581161:exon7:c.693+2T>G;ENST00000437017:exon7:c.693+2T>G)	.	.	0.999982151912279	0.892
18	67864858	A	G	18	70197622	y	y	splicing	RTTN(NM_173630:exon7:c.693+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.693+2T>C;ENST00000583043:exon2:c.63+2T>C;ENST00000454359:exon7:c.693+2T>C;ENST00000581161:exon7:c.693+2T>C;ENST00000437017:exon7:c.693+2T>C)	.	.	0.97563265876445	0.544
18	67864858	A	T	18	70197622	y	y	splicing	RTTN(NM_173630:exon7:c.693+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.693+2T>A;ENST00000583043:exon2:c.63+2T>A;ENST00000454359:exon7:c.693+2T>A;ENST00000581161:exon7:c.693+2T>A;ENST00000437017:exon7:c.693+2T>A)	.	.	0.999983751017103	0.912
18	67864859	C	A	18	70197623	y	y	splicing	RTTN(NM_173630:exon7:c.693+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.693+1G>T;ENST00000583043:exon2:c.63+1G>T;ENST00000454359:exon7:c.693+1G>T;ENST00000581161:exon7:c.693+1G>T;ENST00000437017:exon7:c.693+1G>T)	.	.	0.999915710762489	0.948
18	67864859	C	G	18	70197623	y	y	splicing	RTTN(NM_173630:exon7:c.693+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.693+1G>C;ENST00000583043:exon2:c.63+1G>C;ENST00000454359:exon7:c.693+1G>C;ENST00000581161:exon7:c.693+1G>C;ENST00000437017:exon7:c.693+1G>C)	.	.	0.999915710762489	0.952
18	67864859	C	T	18	70197623	y	y	splicing	RTTN(NM_173630:exon7:c.693+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.693+1G>A;ENST00000583043:exon2:c.63+1G>A;ENST00000454359:exon7:c.693+1G>A;ENST00000581161:exon7:c.693+1G>A;ENST00000437017:exon7:c.693+1G>A)	.	.	0.999915710762489	0.948
18	67864860	C	A	18	70197624	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.G693T:p.Q231H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.G693T:p.Q231H;ENSG00000176225:ENST00000583043:exon1:c.G63T:p.Q21H;ENSG00000176225:ENST00000255674:exon6:c.G693T:p.Q231H;ENSG00000176225:ENST00000581161:exon6:c.G693T:p.Q231H;ENSG00000176225:ENST00000454359:exon6:c.G693T:p.Q231H;	0.999527969732471	0.9
18	67864860	C	G	18	70197624	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.G693C:p.Q231H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.G693C:p.Q231H;ENSG00000176225:ENST00000583043:exon1:c.G63C:p.Q21H;ENSG00000176225:ENST00000255674:exon6:c.G693C:p.Q231H;ENSG00000176225:ENST00000581161:exon6:c.G693C:p.Q231H;ENSG00000176225:ENST00000454359:exon6:c.G693C:p.Q231H;	0.998477459995492	0.854
18	67864860	C	T	18	70197624	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon6:c.G693A:p.Q231Q;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.G693A:p.Q231Q;ENSG00000176225:ENST00000583043:exon1:c.G63A:p.Q21Q;ENSG00000176225:ENST00000255674:exon6:c.G693A:p.Q231Q;ENSG00000176225:ENST00000581161:exon6:c.G693A:p.Q231Q;ENSG00000176225:ENST00000454359:exon6:c.G693A:p.Q231Q;	0.9967914165848	0.942
18	67864861	T	A	18	70197625	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.A692T:p.Q231L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.A692T:p.Q231L;ENSG00000176225:ENST00000583043:exon1:c.A62T:p.Q21L;ENSG00000176225:ENST00000255674:exon6:c.A692T:p.Q231L;ENSG00000176225:ENST00000581161:exon6:c.A692T:p.Q231L;ENSG00000176225:ENST00000454359:exon6:c.A692T:p.Q231L;	0.950122669803677	0.842
18	67864861	T	C	18	70197625	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.A692G:p.Q231R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.A692G:p.Q231R;ENSG00000176225:ENST00000583043:exon1:c.A62G:p.Q21R;ENSG00000176225:ENST00000255674:exon6:c.A692G:p.Q231R;ENSG00000176225:ENST00000581161:exon6:c.A692G:p.Q231R;ENSG00000176225:ENST00000454359:exon6:c.A692G:p.Q231R;	0.977922914762632	0.76
18	67864861	T	G	18	70197625	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.A692C:p.Q231P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.A692C:p.Q231P;ENSG00000176225:ENST00000583043:exon1:c.A62C:p.Q21P;ENSG00000176225:ENST00000255674:exon6:c.A692C:p.Q231P;ENSG00000176225:ENST00000581161:exon6:c.A692C:p.Q231P;ENSG00000176225:ENST00000454359:exon6:c.A692C:p.Q231P;	0.815414852348835	0.656
18	67864862	G	A	18	70197626	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon6:c.C691T:p.Q231X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon6:c.C691T:p.Q231X;ENSG00000176225:ENST00000583043:exon1:c.C61T:p.Q21X;ENSG00000176225:ENST00000255674:exon6:c.C691T:p.Q231X;ENSG00000176225:ENST00000581161:exon6:c.C691T:p.Q231X;ENSG00000176225:ENST00000454359:exon6:c.C691T:p.Q231X;	0.365160915797982	0.556
18	67864862	G	C	18	70197626	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.C691G:p.Q231E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.C691G:p.Q231E;ENSG00000176225:ENST00000583043:exon1:c.C61G:p.Q21E;ENSG00000176225:ENST00000255674:exon6:c.C691G:p.Q231E;ENSG00000176225:ENST00000581161:exon6:c.C691G:p.Q231E;ENSG00000176225:ENST00000454359:exon6:c.C691G:p.Q231E;	6.49446265179445E-5	0.02
18	67864862	G	T	18	70197626	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.C691A:p.Q231K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.C691A:p.Q231K;ENSG00000176225:ENST00000583043:exon1:c.C61A:p.Q21K;ENSG00000176225:ENST00000255674:exon6:c.C691A:p.Q231K;ENSG00000176225:ENST00000581161:exon6:c.C691A:p.Q231K;ENSG00000176225:ENST00000454359:exon6:c.C691A:p.Q231K;	6.72690643938375E-5	0.034
18	67864973	A	C	18	70197737	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.T580G:p.S194A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.T580G:p.S194A;ENSG00000176225:ENST00000255674:exon6:c.T580G:p.S194A;ENSG00000176225:ENST00000581161:exon6:c.T580G:p.S194A;ENSG00000176225:ENST00000454359:exon6:c.T580G:p.S194A;	0.0261853252954683	0.168
18	67864973	A	G	18	70197737	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.T580C:p.S194P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.T580C:p.S194P;ENSG00000176225:ENST00000255674:exon6:c.T580C:p.S194P;ENSG00000176225:ENST00000581161:exon6:c.T580C:p.S194P;ENSG00000176225:ENST00000454359:exon6:c.T580C:p.S194P;	0.0425232832559369	0.142
18	67864973	A	T	18	70197737	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.T580A:p.S194T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.T580A:p.S194T;ENSG00000176225:ENST00000255674:exon6:c.T580A:p.S194T;ENSG00000176225:ENST00000581161:exon6:c.T580A:p.S194T;ENSG00000176225:ENST00000454359:exon6:c.T580A:p.S194T;	0.127155537633069	0.308
18	67864974	G	A	18	70197738	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon6:c.C579T:p.S193S;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.C579T:p.S193S;ENSG00000176225:ENST00000255674:exon6:c.C579T:p.S193S;ENSG00000176225:ENST00000581161:exon6:c.C579T:p.S193S;ENSG00000176225:ENST00000454359:exon6:c.C579T:p.S193S;	0.0054967750496374	0.148
18	67864974	G	C	18	70197738	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.C579G:p.S193R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.C579G:p.S193R;ENSG00000176225:ENST00000255674:exon6:c.C579G:p.S193R;ENSG00000176225:ENST00000581161:exon6:c.C579G:p.S193R;ENSG00000176225:ENST00000454359:exon6:c.C579G:p.S193R;	6.32028694741478E-4	0.108
18	67864974	G	T	18	70197738	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon6:c.C579A:p.S193R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon6:c.C579A:p.S193R;ENSG00000176225:ENST00000255674:exon6:c.C579A:p.S193R;ENSG00000176225:ENST00000581161:exon6:c.C579A:p.S193R;ENSG00000176225:ENST00000454359:exon6:c.C579A:p.S193R;	6.52042376902305E-5	0.004
18	67864975	C	A	18	70197739	y	y	splicing	RTTN(NM_173630:exon7:c.579-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.579-1G>T;ENST00000454359:exon7:c.579-1G>T;ENST00000581161:exon7:c.579-1G>T;ENST00000437017:exon7:c.579-1G>T)	.	.	0.999979422316293	0.952
18	67864975	C	G	18	70197739	y	y	splicing	RTTN(NM_173630:exon7:c.579-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.579-1G>C;ENST00000454359:exon7:c.579-1G>C;ENST00000581161:exon7:c.579-1G>C;ENST00000437017:exon7:c.579-1G>C)	.	.	0.999979422316293	0.952
18	67864975	C	T	18	70197739	y	y	splicing	RTTN(NM_173630:exon7:c.579-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.579-1G>A;ENST00000454359:exon7:c.579-1G>A;ENST00000581161:exon7:c.579-1G>A;ENST00000437017:exon7:c.579-1G>A)	.	.	0.999979422316293	0.952
18	67864976	T	A	18	70197740	y	y	splicing	RTTN(NM_173630:exon7:c.579-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.579-2A>T;ENST00000454359:exon7:c.579-2A>T;ENST00000581161:exon7:c.579-2A>T;ENST00000437017:exon7:c.579-2A>T)	.	.	0.999991823630654	0.944
18	67864976	T	C	18	70197740	y	y	splicing	RTTN(NM_173630:exon7:c.579-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.579-2A>G;ENST00000454359:exon7:c.579-2A>G;ENST00000581161:exon7:c.579-2A>G;ENST00000437017:exon7:c.579-2A>G)	.	.	0.999991823630654	0.944
18	67864976	T	G	18	70197740	y	y	splicing	RTTN(NM_173630:exon7:c.579-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon7:c.579-2A>C;ENST00000454359:exon7:c.579-2A>C;ENST00000581161:exon7:c.579-2A>C;ENST00000437017:exon7:c.579-2A>C)	.	.	0.999991823630654	0.944
18	67864977	A	C	18	70197741	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.980648273250724	0.632
18	67864977	A	G	18	70197741	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.27386060169862E-5	0.052
18	67864977	A	T	18	70197741	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00369638231826376	0.236
18	67864978	C	A	18	70197742	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00103231048322572	0.026
18	67864978	C	G	18	70197742	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.22490957859407E-4	0.012
18	67864978	C	T	18	70197742	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00103231048322572	0.03
18	67864979	A	C	18	70197743	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.995807889773732	0.742
18	67864979	A	G	18	70197743	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0933236642523654	0.232
18	67864979	A	T	18	70197743	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999951753334131	0.98
18	67864980	A	C	18	70197744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.778411299276965	0.556
18	67864980	A	G	18	70197744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.90423932278088E-4	0.036
18	67864980	A	T	18	70197744	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.886660966742402	0.608
18	67864981	A	C	18	70197745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00991814767704852	0.206
18	67864981	A	G	18	70197745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.2874108930527E-5	0.026
18	67864981	A	T	18	70197745	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00809484191584121	0.212
18	67864982	A	C	18	70197746	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.575633277574315	0.568
18	67864982	A	G	18	70197746	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.34848402548213E-4	0.018
18	67864982	A	T	18	70197746	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.750630322616727	0.506
18	67864983	C	A	18	70197747	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.15531010529173E-5	0.0
18	67864983	C	G	18	70197747	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.68483497987356E-5	0.006
18	67864983	C	T	18	70197747	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.35926409136664E-5	0.002
18	67864984	A	C	18	70197748	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999932590666925	0.922
18	67864984	A	G	18	70197748	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.90744113041309E-4	0.106
18	67864984	A	T	18	70197748	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999910176762851	0.904
18	67864985	T	A	18	70197749	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.72574789847114E-5	0.02
18	67864985	T	C	18	70197749	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.99221607988244E-6	0.004
18	67864985	T	G	18	70197749	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.72574789847114E-5	0.002
18	67864986	A	C	18	70197750	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0403332351263761	0.358
18	67864986	A	G	18	70197750	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.60467760600539E-4	0.078
18	67864986	A	T	18	70197750	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00809694698106297	0.44
18	67866642	C	A	18	70199406	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.36427992166171E-5	0.0
18	67866642	C	G	18	70199406	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.06904314222228E-4	0.0
18	67866642	C	T	18	70199406	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.36427992166171E-5	0.0
18	67866643	A	C	18	70199407	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.94140677471429E-5	0.036
18	67866643	A	G	18	70199407	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.77172683591546E-5	0.036
18	67866643	A	T	18	70199407	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.77172683591546E-5	0.036
18	67866644	C	A	18	70199408	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.55785978486885E-5	0.0
18	67866644	C	G	18	70199408	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.43256558885174E-5	0.0
18	67866644	C	T	18	70199408	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.22259538179216E-5	0.0
18	67866645	C	A	18	70199409	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.239900266057795	0.344
18	67866645	C	G	18	70199409	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.197858290227522	0.46
18	67866645	C	T	18	70199409	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.192298804871061	0.358
18	67866646	G	A	18	70199410	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.26409328813174E-4	0.0
18	67866646	G	C	18	70199410	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.42382080444139E-5	0.004
18	67866646	G	T	18	70199410	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.56898340782089E-5	0.016
18	67866647	T	A	18	70199411	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.981142154100146	0.758
18	67866647	T	C	18	70199411	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.390343794260862	0.566
18	67866647	T	G	18	70199411	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.987189331949365	0.698
18	67866648	A	C	18	70199412	y	y	splicing	RTTN(NM_173630:exon6:c.578+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.578+2T>G;ENST00000454359:exon6:c.578+2T>G;ENST00000581161:exon6:c.578+2T>G;ENST00000437017:exon6:c.578+2T>G)	.	.	0.999988247793601	0.928
18	67866648	A	G	18	70199412	y	y	splicing	RTTN(NM_173630:exon6:c.578+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.578+2T>C;ENST00000454359:exon6:c.578+2T>C;ENST00000581161:exon6:c.578+2T>C;ENST00000437017:exon6:c.578+2T>C)	.	.	0.992054276455321	0.622
18	67866648	A	T	18	70199412	y	y	splicing	RTTN(NM_173630:exon6:c.578+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.578+2T>A;ENST00000454359:exon6:c.578+2T>A;ENST00000581161:exon6:c.578+2T>A;ENST00000437017:exon6:c.578+2T>A)	.	.	0.999988247793601	0.928
18	67866649	C	A	18	70199413	y	y	splicing	RTTN(NM_173630:exon6:c.578+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.578+1G>T;ENST00000454359:exon6:c.578+1G>T;ENST00000581161:exon6:c.578+1G>T;ENST00000437017:exon6:c.578+1G>T)	.	.	0.999986675681007	0.934
18	67866649	C	G	18	70199413	y	y	splicing	RTTN(NM_173630:exon6:c.578+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.578+1G>C;ENST00000454359:exon6:c.578+1G>C;ENST00000581161:exon6:c.578+1G>C;ENST00000437017:exon6:c.578+1G>C)	.	.	0.999986675681007	0.934
18	67866649	C	T	18	70199413	y	y	splicing	RTTN(NM_173630:exon6:c.578+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.578+1G>A;ENST00000454359:exon6:c.578+1G>A;ENST00000581161:exon6:c.578+1G>A;ENST00000437017:exon6:c.578+1G>A)	.	.	0.999986675681007	0.934
18	67866650	C	A	18	70199414	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.G578T:p.S193I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.G578T:p.S193I;ENSG00000176225:ENST00000255674:exon5:c.G578T:p.S193I;ENSG00000176225:ENST00000581161:exon5:c.G578T:p.S193I;ENSG00000176225:ENST00000454359:exon5:c.G578T:p.S193I;	0.999884718065966	0.994
18	67866650	C	G	18	70199414	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.G578C:p.S193T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.G578C:p.S193T;ENSG00000176225:ENST00000255674:exon5:c.G578C:p.S193T;ENSG00000176225:ENST00000581161:exon5:c.G578C:p.S193T;ENSG00000176225:ENST00000454359:exon5:c.G578C:p.S193T;	0.999972941837173	0.99
18	67866650	C	T	18	70199414	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.G578A:p.S193N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.G578A:p.S193N;ENSG00000176225:ENST00000255674:exon5:c.G578A:p.S193N;ENSG00000176225:ENST00000581161:exon5:c.G578A:p.S193N;ENSG00000176225:ENST00000454359:exon5:c.G578A:p.S193N;	0.999966447551899	0.972
18	67866651	T	A	18	70199415	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.A577T:p.S193C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A577T:p.S193C;ENSG00000176225:ENST00000255674:exon5:c.A577T:p.S193C;ENSG00000176225:ENST00000581161:exon5:c.A577T:p.S193C;ENSG00000176225:ENST00000454359:exon5:c.A577T:p.S193C;	0.998522851064884	0.96
18	67866651	T	C	18	70199415	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.A577G:p.S193G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A577G:p.S193G;ENSG00000176225:ENST00000255674:exon5:c.A577G:p.S193G;ENSG00000176225:ENST00000581161:exon5:c.A577G:p.S193G;ENSG00000176225:ENST00000454359:exon5:c.A577G:p.S193G;	0.998711509464241	0.972
18	67866651	T	G	18	70199415	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.A577C:p.S193R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A577C:p.S193R;ENSG00000176225:ENST00000255674:exon5:c.A577C:p.S193R;ENSG00000176225:ENST00000581161:exon5:c.A577C:p.S193R;ENSG00000176225:ENST00000454359:exon5:c.A577C:p.S193R;	0.984276371572578	0.906
18	67866652	T	A	18	70199416	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.A576T:p.E192D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A576T:p.E192D;ENSG00000176225:ENST00000255674:exon5:c.A576T:p.E192D;ENSG00000176225:ENST00000581161:exon5:c.A576T:p.E192D;ENSG00000176225:ENST00000454359:exon5:c.A576T:p.E192D;	0.384546617953314	0.512
18	67866652	T	C	18	70199416	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon5:c.A576G:p.E192E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A576G:p.E192E;ENSG00000176225:ENST00000255674:exon5:c.A576G:p.E192E;ENSG00000176225:ENST00000581161:exon5:c.A576G:p.E192E;ENSG00000176225:ENST00000454359:exon5:c.A576G:p.E192E;	0.00174422640532329	0.026
18	67866652	T	G	18	70199416	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.A576C:p.E192D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A576C:p.E192D;ENSG00000176225:ENST00000255674:exon5:c.A576C:p.E192D;ENSG00000176225:ENST00000581161:exon5:c.A576C:p.E192D;ENSG00000176225:ENST00000454359:exon5:c.A576C:p.E192D;	1.50681456322261E-4	0.004
18	67866739	T	A	18	70199503	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon5:c.A489T:p.V163V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A489T:p.V163V;ENSG00000176225:ENST00000255674:exon5:c.A489T:p.V163V;ENSG00000176225:ENST00000581161:exon5:c.A489T:p.V163V;ENSG00000176225:ENST00000454359:exon5:c.A489T:p.V163V;	4.22412037950224E-4	0.086
18	67866739	T	C	18	70199503	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon5:c.A489G:p.V163V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A489G:p.V163V;ENSG00000176225:ENST00000255674:exon5:c.A489G:p.V163V;ENSG00000176225:ENST00000581161:exon5:c.A489G:p.V163V;ENSG00000176225:ENST00000454359:exon5:c.A489G:p.V163V;	2.07426883201109E-4	0.024
18	67866739	T	G	18	70199503	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon5:c.A489C:p.V163V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.A489C:p.V163V;ENSG00000176225:ENST00000255674:exon5:c.A489C:p.V163V;ENSG00000176225:ENST00000581161:exon5:c.A489C:p.V163V;ENSG00000176225:ENST00000454359:exon5:c.A489C:p.V163V;	3.47932695652639E-4	0.036
18	67866740	A	C	18	70199504	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.T488G:p.V163G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.T488G:p.V163G;ENSG00000176225:ENST00000255674:exon5:c.T488G:p.V163G;ENSG00000176225:ENST00000581161:exon5:c.T488G:p.V163G;ENSG00000176225:ENST00000454359:exon5:c.T488G:p.V163G;	6.46918451479571E-4	0.156
18	67866740	A	G	18	70199504	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.T488C:p.V163A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.T488C:p.V163A;ENSG00000176225:ENST00000255674:exon5:c.T488C:p.V163A;ENSG00000176225:ENST00000581161:exon5:c.T488C:p.V163A;ENSG00000176225:ENST00000454359:exon5:c.T488C:p.V163A;	4.97418293083357E-5	0.02
18	67866740	A	T	18	70199504	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon5:c.T488A:p.V163E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon5:c.T488A:p.V163E;ENSG00000176225:ENST00000255674:exon5:c.T488A:p.V163E;ENSG00000176225:ENST00000581161:exon5:c.T488A:p.V163E;ENSG00000176225:ENST00000454359:exon5:c.T488A:p.V163E;	7.70444671406754E-5	0.05
18	67866741	C	A	18	70199505	y	y	splicing	RTTN(NM_173630:exon6:c.488-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.488-1G>T;ENST00000454359:exon6:c.488-1G>T;ENST00000581161:exon6:c.488-1G>T;ENST00000437017:exon6:c.488-1G>T)	.	.	0.999976638640456	0.908
18	67866741	C	G	18	70199505	y	y	splicing	RTTN(NM_173630:exon6:c.488-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.488-1G>C;ENST00000454359:exon6:c.488-1G>C;ENST00000581161:exon6:c.488-1G>C;ENST00000437017:exon6:c.488-1G>C)	.	.	0.999976638640456	0.908
18	67866741	C	T	18	70199505	y	y	splicing	RTTN(NM_173630:exon6:c.488-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.488-1G>A;ENST00000454359:exon6:c.488-1G>A;ENST00000581161:exon6:c.488-1G>A;ENST00000437017:exon6:c.488-1G>A)	.	.	0.999976638640456	0.908
18	67866742	T	A	18	70199506	y	y	splicing	RTTN(NM_173630:exon6:c.488-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.488-2A>T;ENST00000454359:exon6:c.488-2A>T;ENST00000581161:exon6:c.488-2A>T;ENST00000437017:exon6:c.488-2A>T)	.	.	0.999982322733069	0.902
18	67866742	T	C	18	70199506	y	y	splicing	RTTN(NM_173630:exon6:c.488-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.488-2A>G;ENST00000454359:exon6:c.488-2A>G;ENST00000581161:exon6:c.488-2A>G;ENST00000437017:exon6:c.488-2A>G)	.	.	0.999974876897234	0.896
18	67866742	T	G	18	70199506	y	y	splicing	RTTN(NM_173630:exon6:c.488-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon6:c.488-2A>C;ENST00000454359:exon6:c.488-2A>C;ENST00000581161:exon6:c.488-2A>C;ENST00000437017:exon6:c.488-2A>C)	.	.	0.999974876897234	0.896
18	67866743	G	A	18	70199507	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.121419054588561	0.132
18	67866743	G	C	18	70199507	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999750674616473	0.894
18	67866743	G	T	18	70199507	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99688178686129	0.834
18	67866744	T	A	18	70199508	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.59946545377163E-4	0.058
18	67866744	T	C	18	70199508	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.06484712481988E-4	0.09
18	67866744	T	G	18	70199508	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.53834160464224E-4	0.04
18	67866745	C	A	18	70199509	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.45612225627207E-5	0.0
18	67866745	C	G	18	70199509	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.05741418868308E-5	0.0
18	67866745	C	T	18	70199509	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.48415133724762E-5	0.014
18	67866746	A	C	18	70199510	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0575412853445974	0.322
18	67866746	A	G	18	70199510	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.08548860905157E-5	0.01
18	67866746	A	T	18	70199510	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999789924992139	0.982
18	67866747	G	A	18	70199511	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.64335876662927E-5	0.002
18	67866747	G	C	18	70199511	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998767705636298	0.98
18	67866747	G	T	18	70199511	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00232213759842888	0.066
18	67866748	T	A	18	70199512	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.56528728603807E-5	0.006
18	67866748	T	C	18	70199512	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.75542414415935E-5	0.02
18	67866748	T	G	18	70199512	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.86074017232186E-5	0.022
18	67866749	G	A	18	70199513	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.31791029825237E-4	0.028
18	67866749	G	C	18	70199513	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00574231697650619	0.048
18	67866749	G	T	18	70199513	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0100208794925552	0.09
18	67866750	A	C	18	70199514	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00983228640136164	0.21
18	67866750	A	G	18	70199514	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.66543253642498E-5	0.024
18	67866750	A	T	18	70199514	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00376230019572972	0.228
18	67866751	A	C	18	70199515	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.256523813710571	0.578
18	67866751	A	G	18	70199515	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00238460250247035	0.208
18	67866751	A	T	18	70199515	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.823699313069481	0.756
18	67866752	A	C	18	70199516	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99134820830213	0.792
18	67866752	A	G	18	70199516	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0318639165901646	0.226
18	67866752	A	T	18	70199516	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.984601832603905	0.83
18	67869122	A	C	18	70201886	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.9129047323238E-5	0.002
18	67869122	A	G	18	70201886	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.63978668211223E-5	0.022
18	67869122	A	T	18	70201886	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.68837067166931E-5	0.002
18	67869123	T	A	18	70201887	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00106931416738148	0.072
18	67869123	T	C	18	70201887	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.85413826506381E-4	0.022
18	67869123	T	G	18	70201887	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.20941428436788E-4	0.026
18	67869124	A	C	18	70201888	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.968670070199319	0.766
18	67869124	A	G	18	70201888	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.873526745047073	0.734
18	67869124	A	T	18	70201888	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99569883802302	0.73
18	67869125	C	A	18	70201889	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999976932155203	0.954
18	67869125	C	G	18	70201889	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99998345095445	0.95
18	67869125	C	T	18	70201889	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999960768429752	0.958
18	67869126	A	C	18	70201890	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.04607122111784E-5	0.026
18	67869126	A	G	18	70201890	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.84761626331322E-5	0.056
18	67869126	A	T	18	70201890	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.07819494472666E-4	0.012
18	67869127	C	A	18	70201891	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.828464824652524	0.404
18	67869127	C	G	18	70201891	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.659140678200317	0.448
18	67869127	C	T	18	70201891	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.44568719505747E-4	0.062
18	67869128	A	C	18	70201892	y	y	splicing	RTTN(NM_173630:exon5:c.487+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.487+2T>G;ENST00000454359:exon5:c.487+2T>G;ENST00000581161:exon5:c.487+2T>G;ENST00000437017:exon5:c.487+2T>G)	.	.	0.99995820954749	0.818
18	67869128	A	G	18	70201892	y	y	splicing	RTTN(NM_173630:exon5:c.487+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.487+2T>C;ENST00000454359:exon5:c.487+2T>C;ENST00000581161:exon5:c.487+2T>C;ENST00000437017:exon5:c.487+2T>C)	.	.	0.999680696732865	0.76
18	67869128	A	T	18	70201892	y	y	splicing	RTTN(NM_173630:exon5:c.487+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.487+2T>A;ENST00000454359:exon5:c.487+2T>A;ENST00000581161:exon5:c.487+2T>A;ENST00000437017:exon5:c.487+2T>A)	.	.	0.99995820954749	0.846
18	67869129	C	A	18	70201893	y	y	splicing	RTTN(NM_173630:exon5:c.487+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.487+1G>T;ENST00000454359:exon5:c.487+1G>T;ENST00000581161:exon5:c.487+1G>T;ENST00000437017:exon5:c.487+1G>T)	.	.	0.999948555246183	0.83
18	67869129	C	G	18	70201893	y	y	splicing	RTTN(NM_173630:exon5:c.487+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.487+1G>C;ENST00000454359:exon5:c.487+1G>C;ENST00000581161:exon5:c.487+1G>C;ENST00000437017:exon5:c.487+1G>C)	.	.	0.999948555246183	0.828
18	67869129	C	T	18	70201893	y	y	splicing	RTTN(NM_173630:exon5:c.487+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.487+1G>A;ENST00000454359:exon5:c.487+1G>A;ENST00000581161:exon5:c.487+1G>A;ENST00000437017:exon5:c.487+1G>A)	.	.	0.999948555246183	0.874
18	67869130	C	A	18	70201894	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.G487T:p.V163L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.G487T:p.V163L;ENSG00000176225:ENST00000255674:exon4:c.G487T:p.V163L;ENSG00000176225:ENST00000581161:exon4:c.G487T:p.V163L;ENSG00000176225:ENST00000454359:exon4:c.G487T:p.V163L;	0.999980108507738	0.98
18	67869130	C	G	18	70201894	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.G487C:p.V163L;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.G487C:p.V163L;ENSG00000176225:ENST00000255674:exon4:c.G487C:p.V163L;ENSG00000176225:ENST00000581161:exon4:c.G487C:p.V163L;ENSG00000176225:ENST00000454359:exon4:c.G487C:p.V163L;	0.999994144620204	0.966
18	67869130	C	T	18	70201894	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.G487A:p.V163I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.G487A:p.V163I;ENSG00000176225:ENST00000255674:exon4:c.G487A:p.V163I;ENSG00000176225:ENST00000581161:exon4:c.G487A:p.V163I;ENSG00000176225:ENST00000454359:exon4:c.G487A:p.V163I;	0.999983001855662	0.98
18	67869131	C	A	18	70201895	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon4:c.G486T:p.V162V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.G486T:p.V162V;ENSG00000176225:ENST00000255674:exon4:c.G486T:p.V162V;ENSG00000176225:ENST00000581161:exon4:c.G486T:p.V162V;ENSG00000176225:ENST00000454359:exon4:c.G486T:p.V162V;	3.466887034019E-5	0.006
18	67869131	C	G	18	70201895	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon4:c.G486C:p.V162V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.G486C:p.V162V;ENSG00000176225:ENST00000255674:exon4:c.G486C:p.V162V;ENSG00000176225:ENST00000581161:exon4:c.G486C:p.V162V;ENSG00000176225:ENST00000454359:exon4:c.G486C:p.V162V;	2.23340196174346E-5	0.014
18	67869131	C	T	18	70201895	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon4:c.G486A:p.V162V;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.G486A:p.V162V;ENSG00000176225:ENST00000255674:exon4:c.G486A:p.V162V;ENSG00000176225:ENST00000581161:exon4:c.G486A:p.V162V;ENSG00000176225:ENST00000454359:exon4:c.G486A:p.V162V;	7.23915017044477E-5	0.018
18	67869132	A	C	18	70201896	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.T485G:p.V162G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.T485G:p.V162G;ENSG00000176225:ENST00000255674:exon4:c.T485G:p.V162G;ENSG00000176225:ENST00000581161:exon4:c.T485G:p.V162G;ENSG00000176225:ENST00000454359:exon4:c.T485G:p.V162G;	3.62579766786598E-4	0.078
18	67869132	A	G	18	70201896	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.T485C:p.V162A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.T485C:p.V162A;ENSG00000176225:ENST00000255674:exon4:c.T485C:p.V162A;ENSG00000176225:ENST00000581161:exon4:c.T485C:p.V162A;ENSG00000176225:ENST00000454359:exon4:c.T485C:p.V162A;	1.87272843730002E-4	0.056
18	67869132	A	T	18	70201896	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.T485A:p.V162E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.T485A:p.V162E;ENSG00000176225:ENST00000255674:exon4:c.T485A:p.V162E;ENSG00000176225:ENST00000581161:exon4:c.T485A:p.V162E;ENSG00000176225:ENST00000454359:exon4:c.T485A:p.V162E;	1.87272843730002E-4	0.046
18	67869218	T	A	18	70201982	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.A399T:p.E133D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.A399T:p.E133D;ENSG00000176225:ENST00000255674:exon4:c.A399T:p.E133D;ENSG00000176225:ENST00000581161:exon4:c.A399T:p.E133D;ENSG00000176225:ENST00000454359:exon4:c.A399T:p.E133D;	6.62749081501174E-5	0.002
18	67869218	T	C	18	70201982	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon4:c.A399G:p.E133E;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.A399G:p.E133E;ENSG00000176225:ENST00000255674:exon4:c.A399G:p.E133E;ENSG00000176225:ENST00000581161:exon4:c.A399G:p.E133E;ENSG00000176225:ENST00000454359:exon4:c.A399G:p.E133E;	6.05023690077262E-4	0.12
18	67869218	T	G	18	70201982	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.A399C:p.E133D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.A399C:p.E133D;ENSG00000176225:ENST00000255674:exon4:c.A399C:p.E133D;ENSG00000176225:ENST00000581161:exon4:c.A399C:p.E133D;ENSG00000176225:ENST00000454359:exon4:c.A399C:p.E133D;	5.06348931309895E-4	0.022
18	67869219	T	A	18	70201983	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.A398T:p.E133V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.A398T:p.E133V;ENSG00000176225:ENST00000255674:exon4:c.A398T:p.E133V;ENSG00000176225:ENST00000581161:exon4:c.A398T:p.E133V;ENSG00000176225:ENST00000454359:exon4:c.A398T:p.E133V;	0.00103651887742823	0.026
18	67869219	T	C	18	70201983	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.A398G:p.E133G;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.A398G:p.E133G;ENSG00000176225:ENST00000255674:exon4:c.A398G:p.E133G;ENSG00000176225:ENST00000581161:exon4:c.A398G:p.E133G;ENSG00000176225:ENST00000454359:exon4:c.A398G:p.E133G;	1.94118904230247E-4	0.004
18	67869219	T	G	18	70201983	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon4:c.A398C:p.E133A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon4:c.A398C:p.E133A;ENSG00000176225:ENST00000255674:exon4:c.A398C:p.E133A;ENSG00000176225:ENST00000581161:exon4:c.A398C:p.E133A;ENSG00000176225:ENST00000454359:exon4:c.A398C:p.E133A;	0.00114291362040241	0.024
18	67869220	C	A	18	70201984	y	y	splicing	RTTN(NM_173630:exon5:c.398-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.398-1G>T;ENST00000454359:exon5:c.398-1G>T;ENST00000581161:exon5:c.398-1G>T;ENST00000437017:exon5:c.398-1G>T)	.	.	0.999985532734767	0.934
18	67869220	C	G	18	70201984	y	y	splicing	RTTN(NM_173630:exon5:c.398-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.398-1G>C;ENST00000454359:exon5:c.398-1G>C;ENST00000581161:exon5:c.398-1G>C;ENST00000437017:exon5:c.398-1G>C)	.	.	0.999985532734767	0.934
18	67869220	C	T	18	70201984	y	y	splicing	RTTN(NM_173630:exon5:c.398-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.398-1G>A;ENST00000454359:exon5:c.398-1G>A;ENST00000581161:exon5:c.398-1G>A;ENST00000437017:exon5:c.398-1G>A)	.	.	0.999985532734767	0.934
18	67869221	T	A	18	70201985	y	y	splicing	RTTN(NM_173630:exon5:c.398-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.398-2A>T;ENST00000454359:exon5:c.398-2A>T;ENST00000581161:exon5:c.398-2A>T;ENST00000437017:exon5:c.398-2A>T)	.	.	0.999988247793601	0.926
18	67869221	T	C	18	70201985	y	y	splicing	RTTN(NM_173630:exon5:c.398-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.398-2A>G;ENST00000454359:exon5:c.398-2A>G;ENST00000581161:exon5:c.398-2A>G;ENST00000437017:exon5:c.398-2A>G)	.	.	0.999988247793601	0.926
18	67869221	T	G	18	70201985	y	y	splicing	RTTN(NM_173630:exon5:c.398-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon5:c.398-2A>C;ENST00000454359:exon5:c.398-2A>C;ENST00000581161:exon5:c.398-2A>C;ENST00000437017:exon5:c.398-2A>C)	.	.	0.999988247793601	0.926
18	67869222	G	A	18	70201986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00742068457978121	0.058
18	67869222	G	C	18	70201986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.986719236862992	0.898
18	67869222	G	T	18	70201986	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.471758127972151	0.548
18	67869223	A	C	18	70201987	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00628525148685285	0.02
18	67869223	A	G	18	70201987	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00174574061509516	0.034
18	67869223	A	T	18	70201987	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0122751677511461	0.028
18	67869224	A	C	18	70201988	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0623755528029114	0.256
18	67869224	A	G	18	70201988	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00228188371557412	0.138
18	67869224	A	T	18	70201988	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00829464858043479	0.212
18	67869225	A	C	18	70201989	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0276553044691322	0.13
18	67869225	A	G	18	70201989	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.43238753643186E-4	0.004
18	67869225	A	T	18	70201989	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0229719038522301	0.096
18	67869226	A	C	18	70201990	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0635209379034581	0.186
18	67869226	A	G	18	70201990	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00329473455072883	0.082
18	67869226	A	T	18	70201990	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0826896462853005	0.242
18	67869227	G	A	18	70201991	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.63407286156125E-5	0.01
18	67869227	G	C	18	70201991	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.68362764052346E-4	0.058
18	67869227	G	T	18	70201991	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.38931103920623E-4	0.11
18	67869228	G	A	18	70201992	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.02923015869201E-4	0.122
18	67869228	G	C	18	70201992	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.61187139464579E-5	0.062
18	67869228	G	T	18	70201992	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.99912517169333E-5	0.062
18	67869229	A	C	18	70201993	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.19819138586633E-5	0.116
18	67869229	A	G	18	70201993	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.84119396718563E-5	0.028
18	67869229	A	T	18	70201993	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.39632283718708E-4	0.194
18	67869230	A	C	18	70201994	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.88307183828375E-4	0.138
18	67869230	A	G	18	70201994	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.03493594913733E-4	0.074
18	67869230	A	T	18	70201994	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.43311066777811E-4	0.164
18	67869231	A	C	18	70201995	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999112549579998	0.92
18	67869231	A	G	18	70201995	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.1641877314661E-5	0.098
18	67869231	A	T	18	70201995	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.23935231122572E-4	0.152
18	67871314	A	C	18	70204078	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.95253762181096E-4	0.07
18	67871314	A	G	18	70204078	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.16680427783628E-5	0.0
18	67871314	A	T	18	70204078	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.26122478530561E-4	0.0
18	67871315	G	A	18	70204079	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.26372010616593E-4	0.008
18	67871315	G	C	18	70204079	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.41782020028168E-4	0.012
18	67871315	G	T	18	70204079	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.68065306060225E-5	0.0
18	67871316	A	C	18	70204080	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.5179739768402E-4	0.236
18	67871316	A	G	18	70204080	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00758056312709486	0.27
18	67871316	A	T	18	70204080	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00259823346192835	0.236
18	67871317	G	A	18	70204081	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.47735288148808E-5	0.0
18	67871317	G	C	18	70204081	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.92273368019288E-4	0.034
18	67871317	G	T	18	70204081	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	7.06394360440842E-5	0.006
18	67871318	T	A	18	70204082	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.973698278991753	0.778
18	67871318	T	C	18	70204082	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.988794477499766	0.806
18	67871318	T	G	18	70204082	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.682597430559004	0.448
18	67871319	T	A	18	70204083	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999893369475109	0.948
18	67871319	T	C	18	70204083	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.998079194631825	0.778
18	67871319	T	G	18	70204083	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999877608446644	0.94
18	67871320	A	C	18	70204084	y	y	splicing	RTTN(NM_173630:exon4:c.397+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.397+2T>G;ENST00000454359:exon4:c.397+2T>G;ENST00000581161:exon4:c.397+2T>G;ENST00000437017:exon4:c.397+2T>G)	.	.	0.999980255680118	0.786
18	67871320	A	G	18	70204084	y	y	splicing	RTTN(NM_173630:exon4:c.397+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.397+2T>C;ENST00000454359:exon4:c.397+2T>C;ENST00000581161:exon4:c.397+2T>C;ENST00000437017:exon4:c.397+2T>C)	.	.	0.884702652050915	0.528
18	67871320	A	T	18	70204084	y	y	splicing	RTTN(NM_173630:exon4:c.397+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.397+2T>A;ENST00000454359:exon4:c.397+2T>A;ENST00000581161:exon4:c.397+2T>A;ENST00000437017:exon4:c.397+2T>A)	.	.	0.999962958601995	0.798
18	67871321	C	A	18	70204085	y	y	splicing	RTTN(NM_173630:exon4:c.397+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.397+1G>T;ENST00000454359:exon4:c.397+1G>T;ENST00000581161:exon4:c.397+1G>T;ENST00000437017:exon4:c.397+1G>T)	.	.	0.999966603939759	0.896
18	67871321	C	G	18	70204085	y	y	splicing	RTTN(NM_173630:exon4:c.397+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.397+1G>C;ENST00000454359:exon4:c.397+1G>C;ENST00000581161:exon4:c.397+1G>C;ENST00000437017:exon4:c.397+1G>C)	.	.	0.999965722254998	0.88
18	67871321	C	T	18	70204085	y	y	splicing	RTTN(NM_173630:exon4:c.397+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.397+1G>A;ENST00000454359:exon4:c.397+1G>A;ENST00000581161:exon4:c.397+1G>A;ENST00000437017:exon4:c.397+1G>A)	.	.	0.99996469115006	0.908
18	67871322	C	A	18	70204086	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon3:c.G397T:p.E133X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon3:c.G397T:p.E133X;ENSG00000176225:ENST00000255674:exon3:c.G397T:p.E133X;ENSG00000176225:ENST00000581161:exon3:c.G397T:p.E133X;ENSG00000176225:ENST00000454359:exon3:c.G397T:p.E133X;	0.999978471702035	1.0
18	67871322	C	G	18	70204086	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.G397C:p.E133Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.G397C:p.E133Q;ENSG00000176225:ENST00000255674:exon3:c.G397C:p.E133Q;ENSG00000176225:ENST00000581161:exon3:c.G397C:p.E133Q;ENSG00000176225:ENST00000454359:exon3:c.G397C:p.E133Q;	0.99994590152907	0.872
18	67871322	C	T	18	70204086	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.G397A:p.E133K;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.G397A:p.E133K;ENSG00000176225:ENST00000255674:exon3:c.G397A:p.E133K;ENSG00000176225:ENST00000581161:exon3:c.G397A:p.E133K;ENSG00000176225:ENST00000454359:exon3:c.G397A:p.E133K;	0.999982047977073	0.986
18	67871323	A	C	18	70204087	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon3:c.T396G:p.T132T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.T396G:p.T132T;ENSG00000176225:ENST00000255674:exon3:c.T396G:p.T132T;ENSG00000176225:ENST00000581161:exon3:c.T396G:p.T132T;ENSG00000176225:ENST00000454359:exon3:c.T396G:p.T132T;	7.15212393478765E-5	0.0
18	67871323	A	G	18	70204087	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon3:c.T396C:p.T132T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.T396C:p.T132T;ENSG00000176225:ENST00000255674:exon3:c.T396C:p.T132T;ENSG00000176225:ENST00000581161:exon3:c.T396C:p.T132T;ENSG00000176225:ENST00000454359:exon3:c.T396C:p.T132T;	4.02289078680354E-5	0.0
18	67871323	A	T	18	70204087	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon3:c.T396A:p.T132T;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.T396A:p.T132T;ENSG00000176225:ENST00000255674:exon3:c.T396A:p.T132T;ENSG00000176225:ENST00000581161:exon3:c.T396A:p.T132T;ENSG00000176225:ENST00000454359:exon3:c.T396A:p.T132T;	1.14591404206742E-4	0.118
18	67871324	G	A	18	70204088	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.C395T:p.T132I;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.C395T:p.T132I;ENSG00000176225:ENST00000255674:exon3:c.C395T:p.T132I;ENSG00000176225:ENST00000581161:exon3:c.C395T:p.T132I;ENSG00000176225:ENST00000454359:exon3:c.C395T:p.T132I;	0.00720952971171986	0.124
18	67871324	G	C	18	70204088	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.C395G:p.T132S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.C395G:p.T132S;ENSG00000176225:ENST00000255674:exon3:c.C395G:p.T132S;ENSG00000176225:ENST00000581161:exon3:c.C395G:p.T132S;ENSG00000176225:ENST00000454359:exon3:c.C395G:p.T132S;	6.56000851118234E-5	0.006
18	67871324	G	T	18	70204088	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.C395A:p.T132N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.C395A:p.T132N;ENSG00000176225:ENST00000255674:exon3:c.C395A:p.T132N;ENSG00000176225:ENST00000581161:exon3:c.C395A:p.T132N;ENSG00000176225:ENST00000454359:exon3:c.C395A:p.T132N;	8.71959437711952E-5	0.014
18	67871498	T	A	18	70204262	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.A221T:p.Y74F;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.A221T:p.Y74F;ENSG00000176225:ENST00000255674:exon3:c.A221T:p.Y74F;ENSG00000176225:ENST00000581161:exon3:c.A221T:p.Y74F;ENSG00000176225:ENST00000454359:exon3:c.A221T:p.Y74F;	0.00164639578123973	0.108
18	67871498	T	C	18	70204262	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.A221G:p.Y74C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.A221G:p.Y74C;ENSG00000176225:ENST00000255674:exon3:c.A221G:p.Y74C;ENSG00000176225:ENST00000581161:exon3:c.A221G:p.Y74C;ENSG00000176225:ENST00000454359:exon3:c.A221G:p.Y74C;	5.54075032507881E-4	0.008
18	67871498	T	G	18	70204262	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.A221C:p.Y74S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.A221C:p.Y74S;ENSG00000176225:ENST00000255674:exon3:c.A221C:p.Y74S;ENSG00000176225:ENST00000581161:exon3:c.A221C:p.Y74S;ENSG00000176225:ENST00000454359:exon3:c.A221C:p.Y74S;	0.00207027399033818	0.018
18	67871499	A	C	18	70204263	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.T220G:p.Y74D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.T220G:p.Y74D;ENSG00000176225:ENST00000255674:exon3:c.T220G:p.Y74D;ENSG00000176225:ENST00000581161:exon3:c.T220G:p.Y74D;ENSG00000176225:ENST00000454359:exon3:c.T220G:p.Y74D;	3.19230524151092E-4	0.09
18	67871499	A	G	18	70204263	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.T220C:p.Y74H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.T220C:p.Y74H;ENSG00000176225:ENST00000255674:exon3:c.T220C:p.Y74H;ENSG00000176225:ENST00000581161:exon3:c.T220C:p.Y74H;ENSG00000176225:ENST00000454359:exon3:c.T220C:p.Y74H;	5.25615110777568E-5	0.008
18	67871499	A	T	18	70204263	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon3:c.T220A:p.Y74N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon3:c.T220A:p.Y74N;ENSG00000176225:ENST00000255674:exon3:c.T220A:p.Y74N;ENSG00000176225:ENST00000581161:exon3:c.T220A:p.Y74N;ENSG00000176225:ENST00000454359:exon3:c.T220A:p.Y74N;	7.98242527422602E-5	0.006
18	67871500	C	A	18	70204264	y	y	splicing	RTTN(NM_173630:exon4:c.220-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.220-1G>T;ENST00000454359:exon4:c.220-1G>T;ENST00000581161:exon4:c.220-1G>T;ENST00000437017:exon4:c.220-1G>T)	.	.	0.999985532734767	0.936
18	67871500	C	G	18	70204264	y	y	splicing	RTTN(NM_173630:exon4:c.220-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.220-1G>C;ENST00000454359:exon4:c.220-1G>C;ENST00000581161:exon4:c.220-1G>C;ENST00000437017:exon4:c.220-1G>C)	.	.	0.999985532734767	0.936
18	67871500	C	T	18	70204264	y	y	splicing	RTTN(NM_173630:exon4:c.220-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.220-1G>A;ENST00000454359:exon4:c.220-1G>A;ENST00000581161:exon4:c.220-1G>A;ENST00000437017:exon4:c.220-1G>A)	.	.	0.999985532734767	0.936
18	67871501	T	A	18	70204265	y	y	splicing	RTTN(NM_173630:exon4:c.220-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.220-2A>T;ENST00000454359:exon4:c.220-2A>T;ENST00000581161:exon4:c.220-2A>T;ENST00000437017:exon4:c.220-2A>T)	.	.	0.999988247793601	0.928
18	67871501	T	C	18	70204265	y	y	splicing	RTTN(NM_173630:exon4:c.220-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.220-2A>G;ENST00000454359:exon4:c.220-2A>G;ENST00000581161:exon4:c.220-2A>G;ENST00000437017:exon4:c.220-2A>G)	.	.	0.999988247793601	0.928
18	67871501	T	G	18	70204265	y	y	splicing	RTTN(NM_173630:exon4:c.220-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon4:c.220-2A>C;ENST00000454359:exon4:c.220-2A>C;ENST00000581161:exon4:c.220-2A>C;ENST00000437017:exon4:c.220-2A>C)	.	.	0.999988247793601	0.928
18	67871502	A	C	18	70204266	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.988110935430543	0.734
18	67871502	A	G	18	70204266	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.1284903068091E-4	0.01
18	67871502	A	T	18	70204266	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.028103879820606	0.346
18	67871503	A	C	18	70204267	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.85108344038008E-4	0.068
18	67871503	A	G	18	70204267	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.26159020341858E-5	0.01
18	67871503	A	T	18	70204267	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.03257788204781E-4	0.022
18	67871504	A	C	18	70204268	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.613994156680633	0.516
18	67871504	A	G	18	70204268	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.118023236628321	0.2
18	67871504	A	T	18	70204268	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.469040616291989	0.504
18	67871505	A	C	18	70204269	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999882717253091	0.962
18	67871505	A	G	18	70204269	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00365166258755886	0.06
18	67871505	A	T	18	70204269	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.192462693768143	0.236
18	67871506	T	A	18	70204270	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.57011339687173E-5	0.012
18	67871506	T	C	18	70204270	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.7179915229599E-4	0.03
18	67871506	T	G	18	70204270	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.24904944037638E-4	0.02
18	67871507	A	C	18	70204271	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00140159733211817	0.144
18	67871507	A	G	18	70204271	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.58079162770698E-4	0.006
18	67871507	A	T	18	70204271	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00171743068198477	0.194
18	67871508	A	C	18	70204272	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.5124792659403E-4	0.088
18	67871508	A	G	18	70204272	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.4535169902825E-5	0.02
18	67871508	A	T	18	70204272	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.60182076239261E-4	0.096
18	67871509	G	A	18	70204273	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.510719238989E-5	0.002
18	67871509	G	C	18	70204273	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.219678110472E-4	0.036
18	67871509	G	T	18	70204273	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.37053826208164E-4	0.056
18	67871510	A	C	18	70204274	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0721441769225035	0.32
18	67871510	A	G	18	70204274	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00304532630229024	0.144
18	67871510	A	T	18	70204274	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0824188239981717	0.43
18	67871511	A	C	18	70204275	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.112745942682872	0.336
18	67871511	A	G	18	70204275	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00214640665051805	0.062
18	67871511	A	T	18	70204275	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.164545491749672	0.36
18	67872356	G	A	18	70205120	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00188819840981397	0.03
18	67872356	G	C	18	70205120	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	6.90319608723039E-4	0.0
18	67872356	G	T	18	70205120	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00124557890183464	0.052
18	67872357	A	C	18	70205121	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.17079707812878E-4	0.004
18	67872357	A	G	18	70205121	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	8.17079707812878E-4	0.004
18	67872357	A	T	18	70205121	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.15504719457602E-4	0.004
18	67872358	C	A	18	70205122	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.39852865731509E-5	0.004
18	67872358	C	G	18	70205122	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.18519725648678E-5	0.008
18	67872358	C	T	18	70205122	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.92287700572324E-5	0.004
18	67872359	C	A	18	70205123	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.970952840415414	0.658
18	67872359	C	G	18	70205123	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.408080730763798	0.424
18	67872359	C	T	18	70205123	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.679031870805208	0.478
18	67872360	C	A	18	70205124	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.70390223864162E-4	0.06
18	67872360	C	G	18	70205124	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.21595182562528E-4	0.128
18	67872360	C	T	18	70205124	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.42095519372544E-4	0.044
18	67872361	T	A	18	70205125	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.979236206012485	0.666
18	67872361	T	C	18	70205125	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.250766238286862	0.49
18	67872361	T	G	18	70205125	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.87020810223842	0.684
18	67872362	A	C	18	70205126	y	y	splicing	RTTN(NM_173630:exon3:c.219+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.219+2T>G;ENST00000454359:exon3:c.219+2T>G;ENST00000581161:exon3:c.219+2T>G;ENST00000437017:exon3:c.219+2T>G)	.	.	0.999988247793601	0.928
18	67872362	A	G	18	70205126	y	y	splicing	RTTN(NM_173630:exon3:c.219+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.219+2T>C;ENST00000454359:exon3:c.219+2T>C;ENST00000581161:exon3:c.219+2T>C;ENST00000437017:exon3:c.219+2T>C)	.	.	0.99340600729494	0.658
18	67872362	A	T	18	70205126	y	y	splicing	RTTN(NM_173630:exon3:c.219+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.219+2T>A;ENST00000454359:exon3:c.219+2T>A;ENST00000581161:exon3:c.219+2T>A;ENST00000437017:exon3:c.219+2T>A)	.	.	0.999988247793601	0.928
18	67872363	C	A	18	70205127	y	y	splicing	RTTN(NM_173630:exon3:c.219+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.219+1G>T;ENST00000454359:exon3:c.219+1G>T;ENST00000581161:exon3:c.219+1G>T;ENST00000437017:exon3:c.219+1G>T)	.	.	0.999985532734767	0.938
18	67872363	C	G	18	70205127	y	y	splicing	RTTN(NM_173630:exon3:c.219+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.219+1G>C;ENST00000454359:exon3:c.219+1G>C;ENST00000581161:exon3:c.219+1G>C;ENST00000437017:exon3:c.219+1G>C)	.	.	0.999985532734767	0.938
18	67872363	C	T	18	70205127	y	y	splicing	RTTN(NM_173630:exon3:c.219+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.219+1G>A;ENST00000454359:exon3:c.219+1G>A;ENST00000581161:exon3:c.219+1G>A;ENST00000437017:exon3:c.219+1G>A)	.	.	0.999985532734767	0.938
18	67872364	C	A	18	70205128	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.G219T:p.K73N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.G219T:p.K73N;ENSG00000176225:ENST00000255674:exon2:c.G219T:p.K73N;ENSG00000176225:ENST00000581161:exon2:c.G219T:p.K73N;ENSG00000176225:ENST00000454359:exon2:c.G219T:p.K73N;	0.999976652700208	0.968
18	67872364	C	G	18	70205128	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.G219C:p.K73N;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.G219C:p.K73N;ENSG00000176225:ENST00000255674:exon2:c.G219C:p.K73N;ENSG00000176225:ENST00000581161:exon2:c.G219C:p.K73N;ENSG00000176225:ENST00000454359:exon2:c.G219C:p.K73N;	0.999991194324862	1.0
18	67872364	C	T	18	70205128	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon2:c.G219A:p.K73K;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.G219A:p.K73K;ENSG00000176225:ENST00000255674:exon2:c.G219A:p.K73K;ENSG00000176225:ENST00000581161:exon2:c.G219A:p.K73K;ENSG00000176225:ENST00000454359:exon2:c.G219A:p.K73K;	0.99997809977311	0.998
18	67872365	T	A	18	70205129	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.A218T:p.K73M;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.A218T:p.K73M;ENSG00000176225:ENST00000255674:exon2:c.A218T:p.K73M;ENSG00000176225:ENST00000581161:exon2:c.A218T:p.K73M;ENSG00000176225:ENST00000454359:exon2:c.A218T:p.K73M;	0.999842344085004	0.996
18	67872365	T	C	18	70205129	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.A218G:p.K73R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.A218G:p.K73R;ENSG00000176225:ENST00000255674:exon2:c.A218G:p.K73R;ENSG00000176225:ENST00000581161:exon2:c.A218G:p.K73R;ENSG00000176225:ENST00000454359:exon2:c.A218G:p.K73R;	0.99992258357653	0.992
18	67872365	T	G	18	70205129	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.A218C:p.K73T;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.A218C:p.K73T;ENSG00000176225:ENST00000255674:exon2:c.A218C:p.K73T;ENSG00000176225:ENST00000581161:exon2:c.A218C:p.K73T;ENSG00000176225:ENST00000454359:exon2:c.A218C:p.K73T;	0.999387934800464	0.958
18	67872366	T	A	18	70205130	y	y	exonic	RTTN	stopgain SNV	RTTN:NM_173630:exon2:c.A217T:p.K73X;	exonic	ENSG00000176225	stopgain SNV	ENSG00000176225:ENST00000437017:exon2:c.A217T:p.K73X;ENSG00000176225:ENST00000255674:exon2:c.A217T:p.K73X;ENSG00000176225:ENST00000581161:exon2:c.A217T:p.K73X;ENSG00000176225:ENST00000454359:exon2:c.A217T:p.K73X;	0.149944430233846	0.616
18	67872366	T	C	18	70205130	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.A217G:p.K73E;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.A217G:p.K73E;ENSG00000176225:ENST00000255674:exon2:c.A217G:p.K73E;ENSG00000176225:ENST00000581161:exon2:c.A217G:p.K73E;ENSG00000176225:ENST00000454359:exon2:c.A217G:p.K73E;	0.00364580508337141	0.088
18	67872366	T	G	18	70205130	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.A217C:p.K73Q;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.A217C:p.K73Q;ENSG00000176225:ENST00000255674:exon2:c.A217C:p.K73Q;ENSG00000176225:ENST00000581161:exon2:c.A217C:p.K73Q;ENSG00000176225:ENST00000454359:exon2:c.A217C:p.K73Q;	1.5301487618982E-4	0.002
18	67872550	A	C	18	70205314	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon2:c.T33G:p.G11G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.T33G:p.G11G;ENSG00000176225:ENST00000255674:exon2:c.T33G:p.G11G;ENSG00000176225:ENST00000581161:exon2:c.T33G:p.G11G;ENSG00000176225:ENST00000454359:exon2:c.T33G:p.G11G;	0.001083828932925	0.258
18	67872550	A	G	18	70205314	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon2:c.T33C:p.G11G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.T33C:p.G11G;ENSG00000176225:ENST00000255674:exon2:c.T33C:p.G11G;ENSG00000176225:ENST00000581161:exon2:c.T33C:p.G11G;ENSG00000176225:ENST00000454359:exon2:c.T33C:p.G11G;	9.06155686411328E-4	0.226
18	67872550	A	T	18	70205314	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon2:c.T33A:p.G11G;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.T33A:p.G11G;ENSG00000176225:ENST00000255674:exon2:c.T33A:p.G11G;ENSG00000176225:ENST00000581161:exon2:c.T33A:p.G11G;ENSG00000176225:ENST00000454359:exon2:c.T33A:p.G11G;	9.49527286621948E-5	0.162
18	67872551	C	A	18	70205315	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.G32T:p.G11V;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.G32T:p.G11V;ENSG00000176225:ENST00000255674:exon2:c.G32T:p.G11V;ENSG00000176225:ENST00000581161:exon2:c.G32T:p.G11V;ENSG00000176225:ENST00000454359:exon2:c.G32T:p.G11V;	0.999668258776089	0.98
18	67872551	C	G	18	70205315	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.G32C:p.G11A;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.G32C:p.G11A;ENSG00000176225:ENST00000255674:exon2:c.G32C:p.G11A;ENSG00000176225:ENST00000581161:exon2:c.G32C:p.G11A;ENSG00000176225:ENST00000454359:exon2:c.G32C:p.G11A;	0.999598970623519	0.984
18	67872551	C	T	18	70205315	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon2:c.G32A:p.G11D;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon2:c.G32A:p.G11D;ENSG00000176225:ENST00000255674:exon2:c.G32A:p.G11D;ENSG00000176225:ENST00000581161:exon2:c.G32A:p.G11D;ENSG00000176225:ENST00000454359:exon2:c.G32A:p.G11D;	0.999382169537438	0.86
18	67872552	C	A	18	70205316	y	y	splicing	RTTN(NM_173630:exon3:c.32-1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.32-1G>T;ENST00000454359:exon3:c.32-1G>T;ENST00000581161:exon3:c.32-1G>T;ENST00000437017:exon3:c.32-1G>T)	.	.	0.999986675681007	0.94
18	67872552	C	G	18	70205316	y	y	splicing	RTTN(NM_173630:exon3:c.32-1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.32-1G>C;ENST00000454359:exon3:c.32-1G>C;ENST00000581161:exon3:c.32-1G>C;ENST00000437017:exon3:c.32-1G>C)	.	.	0.999986675681007	0.94
18	67872552	C	T	18	70205316	y	y	splicing	RTTN(NM_173630:exon3:c.32-1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.32-1G>A;ENST00000454359:exon3:c.32-1G>A;ENST00000581161:exon3:c.32-1G>A;ENST00000437017:exon3:c.32-1G>A)	.	.	0.999986675681007	0.94
18	67872553	T	A	18	70205317	y	y	splicing	RTTN(NM_173630:exon3:c.32-2A>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.32-2A>T;ENST00000454359:exon3:c.32-2A>T;ENST00000581161:exon3:c.32-2A>T;ENST00000437017:exon3:c.32-2A>T)	.	.	0.999989917668626	0.928
18	67872553	T	C	18	70205317	y	y	splicing	RTTN(NM_173630:exon3:c.32-2A>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.32-2A>G;ENST00000454359:exon3:c.32-2A>G;ENST00000581161:exon3:c.32-2A>G;ENST00000437017:exon3:c.32-2A>G)	.	.	0.999989917668626	0.928
18	67872553	T	G	18	70205317	y	y	splicing	RTTN(NM_173630:exon3:c.32-2A>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon3:c.32-2A>C;ENST00000454359:exon3:c.32-2A>C;ENST00000581161:exon3:c.32-2A>C;ENST00000437017:exon3:c.32-2A>C)	.	.	0.999989917668626	0.928
18	67872554	G	A	18	70205318	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.980421890884072	0.406
18	67872554	G	C	18	70205318	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999940142404272	0.982
18	67872554	G	T	18	70205318	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999237588560966	0.97
18	67872555	T	A	18	70205319	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.67499446258805E-5	0.008
18	67872555	T	C	18	70205319	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.68257246426838E-4	0.168
18	67872555	T	G	18	70205319	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.11434450695569E-4	0.016
18	67872556	C	A	18	70205320	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.64187075035716E-4	0.006
18	67872556	C	G	18	70205320	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.68151188702428E-4	0.0
18	67872556	C	T	18	70205320	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.55786357791842E-4	0.0
18	67872557	A	C	18	70205321	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0674287267785072	0.29
18	67872557	A	G	18	70205321	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.06514748295638E-5	0.004
18	67872557	A	T	18	70205321	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999548402412221	0.978
18	67872558	A	C	18	70205322	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0126575193443736	0.07
18	67872558	A	G	18	70205322	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.8794167008798E-5	0.012
18	67872558	A	T	18	70205322	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0305737311146797	0.12
18	67872559	C	A	18	70205323	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.95076949036759E-5	0.0
18	67872559	C	G	18	70205323	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.95076949036759E-5	0.0
18	67872559	C	T	18	70205323	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.85614225545852E-4	0.012
18	67872560	G	A	18	70205324	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.67394928358733E-5	0.0
18	67872560	G	C	18	70205324	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.79573043457221E-4	0.026
18	67872560	G	T	18	70205324	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999868177098649	0.916
18	67872561	A	C	18	70205325	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00256147552937584	0.132
18	67872561	A	G	18	70205325	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.87625884861368E-4	0.004
18	67872561	A	T	18	70205325	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00157737922283508	0.074
18	67872562	A	C	18	70205326	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.571929270077482	0.548
18	67872562	A	G	18	70205326	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0145272542907597	0.158
18	67872562	A	T	18	70205326	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.91134818083854	0.658
18	67872563	C	A	18	70205327	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.46350695851948E-4	0.004
18	67872563	C	G	18	70205327	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.82360172596367E-4	0.006
18	67872563	C	T	18	70205327	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.28575917139174E-4	0.018
18	67872856	A	C	18	70205620	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	5.30282416034687E-5	0.02
18	67872856	A	G	18	70205620	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.61265014465301E-5	0.0
18	67872856	A	T	18	70205620	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.1365987394554E-4	0.0
18	67872857	C	A	18	70205621	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	9.02973200540611E-5	0.0
18	67872857	C	G	18	70205621	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.90038093763222E-5	0.0
18	67872857	C	T	18	70205621	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	4.53846404189559E-5	0.0
18	67872858	A	C	18	70205622	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.00324441326170653	0.132
18	67872858	A	G	18	70205622	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0022083652324576	0.192
18	67872858	A	T	18	70205622	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.0013918569538764	0.044
18	67872859	G	A	18	70205623	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	3.19305985461527E-5	0.0
18	67872859	G	C	18	70205623	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	1.37583633351385E-4	0.082
18	67872859	G	T	18	70205623	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	2.33522816298886E-5	0.006
18	67872860	T	A	18	70205624	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.97485020465596	0.804
18	67872860	T	C	18	70205624	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99742565461043	0.922
18	67872860	T	G	18	70205624	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.969555490266633	0.732
18	67872861	T	A	18	70205625	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999947212169643	0.946
18	67872861	T	C	18	70205625	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.99958668505924	0.874
18	67872861	T	G	18	70205625	y	y	intronic	RTTN	.	.	intronic	ENSG00000176225	.	.	0.999919764978121	0.936
18	67872862	A	C	18	70205626	y	y	splicing	RTTN(NM_173630:exon2:c.31+2T>G)	.	.	splicing	ENSG00000176225(ENST00000255674:exon2:c.31+2T>G;ENST00000454359:exon2:c.31+2T>G;ENST00000581161:exon2:c.31+2T>G;ENST00000437017:exon2:c.31+2T>G)	.	.	0.999972871252391	0.878
18	67872862	A	G	18	70205626	y	y	splicing	RTTN(NM_173630:exon2:c.31+2T>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon2:c.31+2T>C;ENST00000454359:exon2:c.31+2T>C;ENST00000581161:exon2:c.31+2T>C;ENST00000437017:exon2:c.31+2T>C)	.	.	0.974536055855046	0.57
18	67872862	A	T	18	70205626	y	y	splicing	RTTN(NM_173630:exon2:c.31+2T>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon2:c.31+2T>A;ENST00000454359:exon2:c.31+2T>A;ENST00000581161:exon2:c.31+2T>A;ENST00000437017:exon2:c.31+2T>A)	.	.	0.999982151912279	0.89
18	67872863	C	A	18	70205627	y	y	splicing	RTTN(NM_173630:exon2:c.31+1G>T)	.	.	splicing	ENSG00000176225(ENST00000255674:exon2:c.31+1G>T;ENST00000454359:exon2:c.31+1G>T;ENST00000581161:exon2:c.31+1G>T;ENST00000437017:exon2:c.31+1G>T)	.	.	0.99996748057446	0.908
18	67872863	C	G	18	70205627	y	y	splicing	RTTN(NM_173630:exon2:c.31+1G>C)	.	.	splicing	ENSG00000176225(ENST00000255674:exon2:c.31+1G>C;ENST00000454359:exon2:c.31+1G>C;ENST00000581161:exon2:c.31+1G>C;ENST00000437017:exon2:c.31+1G>C)	.	.	0.99996748057446	0.906
18	67872863	C	T	18	70205627	y	y	splicing	RTTN(NM_173630:exon2:c.31+1G>A)	.	.	splicing	ENSG00000176225(ENST00000255674:exon2:c.31+1G>A;ENST00000454359:exon2:c.31+1G>A;ENST00000581161:exon2:c.31+1G>A;ENST00000437017:exon2:c.31+1G>A)	.	.	0.99996748057446	0.908
18	67872864	C	A	18	70205628	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon1:c.G31T:p.G11C;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.G31T:p.G11C;ENSG00000176225:ENST00000255674:exon1:c.G31T:p.G11C;ENSG00000176225:ENST00000581161:exon1:c.G31T:p.G11C;ENSG00000176225:ENST00000454359:exon1:c.G31T:p.G11C;	0.999936447968586	0.93
18	67872864	C	G	18	70205628	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon1:c.G31C:p.G11R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.G31C:p.G11R;ENSG00000176225:ENST00000255674:exon1:c.G31C:p.G11R;ENSG00000176225:ENST00000581161:exon1:c.G31C:p.G11R;ENSG00000176225:ENST00000454359:exon1:c.G31C:p.G11R;	0.999977843407066	0.97
18	67872864	C	T	18	70205628	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon1:c.G31A:p.G11S;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.G31A:p.G11S;ENSG00000176225:ENST00000255674:exon1:c.G31A:p.G11S;ENSG00000176225:ENST00000581161:exon1:c.G31A:p.G11S;ENSG00000176225:ENST00000454359:exon1:c.G31A:p.G11S;	0.999980800811615	1.0
18	67872865	G	A	18	70205629	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon1:c.C30T:p.L10L;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.C30T:p.L10L;ENSG00000176225:ENST00000255674:exon1:c.C30T:p.L10L;ENSG00000176225:ENST00000581161:exon1:c.C30T:p.L10L;ENSG00000176225:ENST00000454359:exon1:c.C30T:p.L10L;	0.00906236889357402	0.122
18	67872865	G	C	18	70205629	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon1:c.C30G:p.L10L;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.C30G:p.L10L;ENSG00000176225:ENST00000255674:exon1:c.C30G:p.L10L;ENSG00000176225:ENST00000581161:exon1:c.C30G:p.L10L;ENSG00000176225:ENST00000454359:exon1:c.C30G:p.L10L;	0.00837912599582324	0.04
18	67872865	G	T	18	70205629	y	y	exonic	RTTN	synonymous SNV	RTTN:NM_173630:exon1:c.C30A:p.L10L;	exonic	ENSG00000176225	synonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.C30A:p.L10L;ENSG00000176225:ENST00000255674:exon1:c.C30A:p.L10L;ENSG00000176225:ENST00000581161:exon1:c.C30A:p.L10L;ENSG00000176225:ENST00000454359:exon1:c.C30A:p.L10L;	7.51907498722048E-5	0.11
18	67872866	A	C	18	70205630	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon1:c.T29G:p.L10R;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.T29G:p.L10R;ENSG00000176225:ENST00000255674:exon1:c.T29G:p.L10R;ENSG00000176225:ENST00000581161:exon1:c.T29G:p.L10R;ENSG00000176225:ENST00000454359:exon1:c.T29G:p.L10R;	0.00116451303760763	0.02
18	67872866	A	G	18	70205630	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon1:c.T29C:p.L10P;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.T29C:p.L10P;ENSG00000176225:ENST00000255674:exon1:c.T29C:p.L10P;ENSG00000176225:ENST00000581161:exon1:c.T29C:p.L10P;ENSG00000176225:ENST00000454359:exon1:c.T29C:p.L10P;	6.72470842979381E-4	0.006
18	67872866	A	T	18	70205630	y	y	exonic	RTTN	nonsynonymous SNV	RTTN:NM_173630:exon1:c.T29A:p.L10H;	exonic	ENSG00000176225	nonsynonymous SNV	ENSG00000176225:ENST00000437017:exon1:c.T29A:p.L10H;ENSG00000176225:ENST00000255674:exon1:c.T29A:p.L10H;ENSG00000176225:ENST00000581161:exon1:c.T29A:p.L10H;ENSG00000176225:ENST00000454359:exon1:c.T29A:p.L10H;	7.91727924379126E-4	0.014
18	67956324	C	A	18	70289088	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	3.49779056584257E-4	0.02
18	67956324	C	G	18	70289088	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	2.40989464615133E-4	0.022
18	67956324	C	T	18	70289088	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.0030614556529071	0.124
18	67956325	G	A	18	70289089	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.00111148833276203	0.102
18	67956325	G	C	18	70289089	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.00492189407646755	0.01
18	67956325	G	T	18	70289089	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.00305945377891728	0.026
18	67956326	G	A	18	70289090	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.987785353855211	0.71
18	67956326	G	C	18	70289090	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.999852066344013	0.744
18	67956326	G	T	18	70289090	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.999787786779375	0.852
18	67956327	G	A	18	70289091	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999949833242292	0.896
18	67956327	G	C	18	70289091	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999958018318385	0.874
18	67956327	G	T	18	70289091	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999948083378397	0.892
18	67956328	T	A	18	70289092	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999949833242292	0.906
18	67956328	T	C	18	70289092	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999373173731396	0.86
18	67956328	T	G	18	70289092	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999948083378397	0.886
18	67956329	A	C	18	70289093	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.543977307863631	0.466
18	67956329	A	G	18	70289093	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.00158233588523095	0.036
18	67956329	A	T	18	70289093	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.971378043719421	0.508
18	67956330	A	C	18	70289094	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.527449003496581	0.328
18	67956330	A	G	18	70289094	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.779404030495862	0.388
18	67956330	A	T	18	70289094	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.834729647681627	0.382
18	67956331	G	A	18	70289095	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.996691093004445	0.838
18	67956331	G	C	18	70289095	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.998910790808481	0.84
18	67956331	G	T	18	70289095	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.996891604137193	0.8
18	67956332	C	A	18	70289096	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	6.53966656641704E-4	0.052
18	67956332	C	G	18	70289096	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.00127377363469647	0.03
18	67956332	C	T	18	70289096	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	4.3230711112535E-4	0.012
18	67956333	G	A	18	70289097	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.00177052814641206	0.01
18	67956333	G	C	18	70289097	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.00160334531622698	0.042
18	67956333	G	T	18	70289097	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	7.3881566575264E-4	0.006
18	67956334	T	A	18	70289098	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.021334356929E-4	0.0
18	67956334	T	C	18	70289098	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	6.23841440294259E-5	0.004
18	67956334	T	G	18	70289098	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	7.83721727701805E-5	0.004
18	67963917	G	A	18	70296681	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	2.82827935381688E-5	0.004
18	67963917	G	C	18	70296681	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	3.78205327723092E-5	0.006
18	67963917	G	T	18	70296681	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	3.78205327723092E-5	0.02
18	67963918	T	A	18	70296682	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	4.95905533305893E-5	0.0
18	67963918	T	C	18	70296682	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	4.78674951653264E-5	0.0
18	67963918	T	G	18	70296682	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	4.78674951653264E-5	0.0
18	67963919	T	A	18	70296683	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	4.95905533305893E-5	0.0
18	67963919	T	C	18	70296683	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	4.78674951653264E-5	0.0
18	67963919	T	G	18	70296683	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	4.78674951653264E-5	0.0
18	67963920	G	A	18	70296684	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	6.14850402615726E-5	0.006
18	67963920	G	C	18	70296684	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	6.14850402615726E-5	0.006
18	67963920	G	T	18	70296684	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	6.14850402615726E-5	0.006
18	67963921	T	A	18	70296685	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	3.52173701430229E-5	0.014
18	67963921	T	C	18	70296685	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	3.52173701430229E-5	0.006
18	67963921	T	G	18	70296685	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	3.52173701430229E-5	0.006
18	67963922	A	C	18	70296686	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.11203329754734E-5	0.002
18	67963922	A	G	18	70296686	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.11203329754734E-5	0.002
18	67963922	A	T	18	70296686	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	9.14505838604605E-5	0.006
18	67963923	A	C	18	70296687	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.01578748569253E-5	0.024
18	67963923	A	G	18	70296687	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.01578748569253E-5	0.0
18	67963923	A	T	18	70296687	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.01578748569253E-5	0.0
18	67963924	G	A	18	70296688	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.0180149904064E-5	0.008
18	67963924	G	C	18	70296688	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.0180149904064E-5	0.006
18	67963924	G	T	18	70296688	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.0180149904064E-5	0.006
18	67963925	C	A	18	70296689	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.31929338280547E-5	0.004
18	67963925	C	G	18	70296689	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.31929338280547E-5	0.0
18	67963925	C	T	18	70296689	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	6.89925739660516E-5	0.004
18	67963926	C	A	18	70296690	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.63709697066248E-5	0.0
18	67963926	C	G	18	70296690	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.63709697066248E-5	0.0
18	67963926	C	T	18	70296690	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.63709697066248E-5	0.0
18	67963927	A	C	18	70296691	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.78864525412067E-5	0.0
18	67963927	A	G	18	70296691	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.78864525412067E-5	0.0
18	67963927	A	T	18	70296691	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.78864525412067E-5	0.0
18	67981474	A	C	18	70314238	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	2.83935518155002E-5	0.0
18	67981474	A	G	18	70314238	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	2.83935518155002E-5	0.0
18	67981474	A	T	18	70314238	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	6.7395485643605E-5	0.008
18	67981475	G	A	18	70314239	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	1.67406935090243E-5	0.0
18	67981475	G	C	18	70314239	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	1.67406935090243E-5	0.0
18	67981475	G	T	18	70314239	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	1.67406935090243E-5	0.0
18	67981476	A	C	18	70314240	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	2.83935518155002E-5	0.0
18	67981476	A	G	18	70314240	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	2.83935518155002E-5	0.0
18	67981476	A	T	18	70314240	n	y	intronic	SOCS6	.	.	UTR5	ENSG00000170677	.	.	6.7395485643605E-5	0.008
18	67981477	G	A	18	70314241	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	1.08378557604853E-5	0.002
18	67981477	G	C	18	70314241	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	1.08378557604853E-5	0.0
18	67981477	G	T	18	70314241	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	1.08378557604853E-5	0.0
18	67981478	T	A	18	70314242	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	2.45277156108894E-5	0.0
18	67981478	T	C	18	70314242	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	2.45277156108894E-5	0.0
18	67981478	T	G	18	70314242	n	y	intronic	SOCS6	.	.	splicing	ENSG00000170677	.	.	2.45277156108894E-5	0.0
18	67981479	G	A	18	70314243	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.08378557604853E-5	0.002
18	67981479	G	C	18	70314243	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.08378557604853E-5	0.0
18	67981479	G	T	18	70314243	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.08378557604853E-5	0.0
18	67981480	A	C	18	70314244	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.63141535133926E-5	0.0
18	67981480	A	G	18	70314244	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.63141535133926E-5	0.0
18	67981480	A	T	18	70314244	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.63141535133926E-5	0.0
18	67981481	G	A	18	70314245	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.45277156108894E-5	0.0
18	67981481	G	C	18	70314245	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.45277156108894E-5	0.0
18	67981481	G	T	18	70314245	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.45277156108894E-5	0.0
18	67981482	A	C	18	70314246	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.63141535133926E-5	0.0
18	67981482	A	G	18	70314246	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.63141535133926E-5	0.0
18	67981482	A	T	18	70314246	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.63141535133926E-5	0.0
18	67981483	C	A	18	70314247	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.08378557604853E-5	0.0
18	67981483	C	G	18	70314247	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.08378557604853E-5	0.0
18	67981483	C	T	18	70314247	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.67406935090243E-5	0.0
18	67981484	C	A	18	70314248	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.67406935090243E-5	0.02
18	67981484	C	G	18	70314248	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.08378557604853E-5	0.0
18	67981484	C	T	18	70314248	n	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.67406935090243E-5	0.0
18	67991767	T	A	18	70324531	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	4.6501946658479E-5	0.092
18	67991767	T	C	18	70324531	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.9795594238374E-5	0.008
18	67991767	T	G	18	70324531	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	7.78464066697407E-5	0.066
18	67991768	T	A	18	70324532	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.0025624439196569	0.136
18	67991768	T	C	18	70324532	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.66496930028E-4	0.02
18	67991768	T	G	18	70324532	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	4.84182089663044E-4	0.094
18	67991769	T	A	18	70324533	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	3.30692017436481E-4	0.086
18	67991769	T	C	18	70324533	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.05287776774773E-4	0.002
18	67991769	T	G	18	70324533	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	4.88239367113667E-4	0.086
18	67991770	A	C	18	70324534	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	6.79363271859128E-6	0.0
18	67991770	A	G	18	70324534	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	8.04625052208948E-5	0.018
18	67991770	A	T	18	70324534	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.42021970005488E-5	0.004
18	67991771	T	A	18	70324535	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	4.54142729752215E-4	0.02
18	67991771	T	C	18	70324535	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.15808444684618E-5	0.0
18	67991771	T	G	18	70324535	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.990134592402974	0.956
18	67991772	T	A	18	70324536	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	2.36935713090055E-4	0.032
18	67991772	T	C	18	70324536	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	5.80313195221093E-5	0.004
18	67991772	T	G	18	70324536	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	9.6666112719068E-5	0.066
18	67991773	T	A	18	70324537	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.00538693005389871	0.112
18	67991773	T	C	18	70324537	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	9.06749683581614E-5	0.016
18	67991773	T	G	18	70324537	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.00555982610826103	0.14
18	67991774	T	A	18	70324538	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	4.58694985574263E-4	0.13
18	67991774	T	C	18	70324538	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	1.19915513767871E-4	0.004
18	67991774	T	G	18	70324538	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.0100428482742105	0.2
18	67991775	T	A	18	70324539	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	5.49598332077601E-5	0.0
18	67991775	T	C	18	70324539	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	4.46613955282317E-5	0.0
18	67991775	T	G	18	70324539	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	6.00120409751443E-5	0.01
18	67991776	T	A	18	70324540	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.00242340697285501	0.08
18	67991776	T	C	18	70324540	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	6.81229975096671E-5	0.02
18	67991776	T	G	18	70324540	y	y	intronic	SOCS6	.	.	intronic	ENSG00000170677	.	.	0.856522448975578	0.602
18	67991777	A	C	18	70324541	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999978278263889	0.938
18	67991777	A	G	18	70324541	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999978278263889	0.938
18	67991777	A	T	18	70324541	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.999978278263889	0.93
18	67991778	G	A	18	70324542	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.99994568797423	0.932
18	67991778	G	C	18	70324542	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.99994568797423	0.934
18	67991778	G	T	18	70324542	y	y	splicing	SOCS6	.	.	splicing	ENSG00000170677	.	.	0.99994568797423	0.932
18	67991779	A	C	18	70324543	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.00135995965553926	0.02
18	67991779	A	G	18	70324543	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.00121316754713041	0.006
18	67991779	A	T	18	70324543	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	0.00191939408080474	0.026
18	67991780	A	C	18	70324544	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	1.80029485686824E-4	0.008
18	67991780	A	G	18	70324544	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	1.765952461651E-4	0.004
18	67991780	A	T	18	70324544	y	y	UTR5	SOCS6	.	.	UTR5	ENSG00000170677	.	.	4.09690512566479E-5	0.016
18	68297924	T	A	18	70630688	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon3:c.A283T:p.I95F;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon3:c.A283T:p.I95F;ENSG00000263417:ENST00000594039:exon4:c.A283T:p.I95F;	3.34576408793391E-5	0.0
18	68297924	T	C	18	70630688	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon3:c.A283G:p.I95V;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon3:c.A283G:p.I95V;ENSG00000263417:ENST00000594039:exon4:c.A283G:p.I95V;	1.28940658875355E-4	0.008
18	68297924	T	G	18	70630688	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon3:c.A283C:p.I95L;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon3:c.A283C:p.I95L;ENSG00000263417:ENST00000594039:exon4:c.A283C:p.I95L;	3.40839541162668E-4	0.022
18	68297925	C	A	18	70630689	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon3:c.G282T:p.R94S;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon3:c.G282T:p.R94S;ENSG00000263417:ENST00000594039:exon4:c.G282T:p.R94S;	0.0454843930466278	0.356
18	68297925	C	G	18	70630689	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon3:c.G282C:p.R94S;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon3:c.G282C:p.R94S;ENSG00000263417:ENST00000594039:exon4:c.G282C:p.R94S;	0.0025731300619543	0.22
18	68297925	C	T	18	70630689	y	y	exonic	GTSCR1	synonymous SNV	GTSCR1:NM_001278515:exon3:c.G282A:p.R94R;	exonic	ENSG00000263417	synonymous SNV	ENSG00000263417:ENST00000582578:exon3:c.G282A:p.R94R;ENSG00000263417:ENST00000594039:exon4:c.G282A:p.R94R;	2.43200969057148E-4	0.092
18	68297926	C	A	18	70630690	y	y	splicing	GTSCR1(NM_001278515:exon4:c.282-1G>T)	.	.	splicing	ENSG00000263417(ENST00000582578:exon4:c.282-1G>T;ENST00000594039:exon5:c.282-1G>T)	.	.	0.999940351765486	0.762
18	68297926	C	G	18	70630690	y	y	splicing	GTSCR1(NM_001278515:exon4:c.282-1G>C)	.	.	splicing	ENSG00000263417(ENST00000582578:exon4:c.282-1G>C;ENST00000594039:exon5:c.282-1G>C)	.	.	0.999940351765486	0.76
18	68297926	C	T	18	70630690	y	y	splicing	GTSCR1(NM_001278515:exon4:c.282-1G>A)	.	.	splicing	ENSG00000263417(ENST00000582578:exon4:c.282-1G>A;ENST00000594039:exon5:c.282-1G>A)	.	.	0.999940351765486	0.764
18	68297927	T	A	18	70630691	y	y	splicing	GTSCR1(NM_001278515:exon4:c.282-2A>T)	.	.	splicing	ENSG00000263417(ENST00000582578:exon4:c.282-2A>T;ENST00000594039:exon5:c.282-2A>T)	.	.	0.999189292038172	0.63
18	68297927	T	C	18	70630691	y	y	splicing	GTSCR1(NM_001278515:exon4:c.282-2A>G)	.	.	splicing	ENSG00000263417(ENST00000582578:exon4:c.282-2A>G;ENST00000594039:exon5:c.282-2A>G)	.	.	0.999189292038172	0.632
18	68297927	T	G	18	70630691	y	y	splicing	GTSCR1(NM_001278515:exon4:c.282-2A>C)	.	.	splicing	ENSG00000263417(ENST00000582578:exon4:c.282-2A>C;ENST00000594039:exon5:c.282-2A>C)	.	.	0.999189292038172	0.626
18	68297928	G	A	18	70630692	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00238602283935163	0.18
18	68297928	G	C	18	70630692	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.975712884393831	0.726
18	68297928	G	T	18	70630692	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.228410942660665	0.41
18	68297929	A	C	18	70630693	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00156757442068814	0.014
18	68297929	A	G	18	70630693	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00357706339579256	0.012
18	68297929	A	T	18	70630693	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00155512358065282	0.048
18	68297930	A	C	18	70630694	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.765979146084991	0.326
18	68297930	A	G	18	70630694	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	9.14190223410048E-4	0.13
18	68297930	A	T	18	70630694	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.776694892311313	0.344
18	68297931	A	C	18	70630695	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.999776210070991	0.928
18	68297931	A	G	18	70630695	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.5381451168673E-5	0.042
18	68297931	A	T	18	70630695	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.118574115514536	0.364
18	68297932	T	A	18	70630696	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.08036723949862E-4	0.008
18	68297932	T	C	18	70630696	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	7.06311139218476E-4	0.012
18	68297932	T	G	18	70630696	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.71829569170628E-4	0.006
18	68297933	A	C	18	70630697	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00643720647738886	0.23
18	68297933	A	G	18	70630697	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	7.29795537844848E-5	0.022
18	68297933	A	T	18	70630697	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.0105121934635893	0.224
18	68297934	C	A	18	70630698	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.11384937843606E-5	0.016
18	68297934	C	G	18	70630698	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.61473040370615E-5	0.016
18	68297934	C	T	18	70630698	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.30088789688932E-5	0.006
18	68297935	A	C	18	70630699	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00876247062162553	0.19
18	68297935	A	G	18	70630699	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	7.0570597404929E-5	0.0
18	68297935	A	T	18	70630699	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.996434358032954	0.95
18	68297936	G	A	18	70630700	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.1435495876938E-4	0.0
18	68297936	G	C	18	70630700	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	9.09488561795702E-4	0.054
18	68297936	G	T	18	70630700	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.0015507181816554	0.064
18	68297937	A	C	18	70630701	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.109841633344438	0.354
18	68297937	A	G	18	70630701	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00333325683074922	0.09
18	68297937	A	T	18	70630701	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.0424076989110069	0.33
18	68309773	A	C	18	70642537	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.11250391840953E-5	0.002
18	68309773	A	G	18	70642537	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.58915390719906E-5	0.0
18	68309773	A	T	18	70642537	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.80109675654916E-5	0.04
18	68309774	T	A	18	70642538	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	9.80433921072437E-6	0.002
18	68309774	T	C	18	70642538	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	6.34727314296833E-6	0.004
18	68309774	T	G	18	70642538	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.17751248491294E-6	0.01
18	68309775	A	C	18	70642539	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.66141391658072E-4	0.064
18	68309775	A	G	18	70642539	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00112392732689792	0.098
18	68309775	A	T	18	70642539	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00122452120869916	0.046
18	68309776	C	A	18	70642540	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.353465251017582	0.38
18	68309776	C	G	18	70642540	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.578047480144914	0.48
18	68309776	C	T	18	70642540	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.479678647845481	0.43
18	68309777	A	C	18	70642541	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.2369772568528E-5	0.0
18	68309777	A	G	18	70642541	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.81474896170976E-5	0.0
18	68309777	A	T	18	70642541	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.75967670853808E-5	0.018
18	68309778	T	A	18	70642542	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.591964108079931	0.466
18	68309778	T	C	18	70642542	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.0403807930988339	0.414
18	68309778	T	G	18	70642542	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.677786056519464	0.458
18	68309779	A	C	18	70642543	y	y	splicing	GTSCR1(NM_001278515:exon3:c.281+2T>G)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.281+2T>G;ENST00000594039:exon4:c.281+2T>G)	.	.	0.99974481512155	0.532
18	68309779	A	G	18	70642543	y	y	splicing	GTSCR1(NM_001278515:exon3:c.281+2T>C)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.281+2T>C;ENST00000594039:exon4:c.281+2T>C)	.	.	0.287624176242593	0.528
18	68309779	A	T	18	70642543	y	y	splicing	GTSCR1(NM_001278515:exon3:c.281+2T>A)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.281+2T>A;ENST00000594039:exon4:c.281+2T>A)	.	.	0.999884712965868	0.52
18	68309780	C	A	18	70642544	y	y	splicing	GTSCR1(NM_001278515:exon3:c.281+1G>T)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.281+1G>T;ENST00000594039:exon4:c.281+1G>T)	.	.	0.99985360958597	0.616
18	68309780	C	G	18	70642544	y	y	splicing	GTSCR1(NM_001278515:exon3:c.281+1G>C)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.281+1G>C;ENST00000594039:exon4:c.281+1G>C)	.	.	0.99985360958597	0.6
18	68309780	C	T	18	70642544	y	y	splicing	GTSCR1(NM_001278515:exon3:c.281+1G>A)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.281+1G>A;ENST00000594039:exon4:c.281+1G>A)	.	.	0.99985360958597	0.624
18	68309781	C	A	18	70642545	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.G281T:p.R94M;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.G281T:p.R94M;ENSG00000263417:ENST00000594039:exon3:c.G281T:p.R94M;	0.880140764776639	0.746
18	68309781	C	G	18	70642545	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.G281C:p.R94T;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.G281C:p.R94T;ENSG00000263417:ENST00000594039:exon3:c.G281C:p.R94T;	0.859934547392315	0.576
18	68309781	C	T	18	70642545	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.G281A:p.R94K;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.G281A:p.R94K;ENSG00000263417:ENST00000594039:exon3:c.G281A:p.R94K;	0.793911393434427	0.584
18	68309782	T	A	18	70642546	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.A280T:p.R94W;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.A280T:p.R94W;ENSG00000263417:ENST00000594039:exon3:c.A280T:p.R94W;	0.0980767805454	0.502
18	68309782	T	C	18	70642546	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.A280G:p.R94G;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.A280G:p.R94G;ENSG00000263417:ENST00000594039:exon3:c.A280G:p.R94G;	0.0520128178174755	0.394
18	68309782	T	G	18	70642546	y	y	exonic	GTSCR1	synonymous SNV	GTSCR1:NM_001278515:exon2:c.A280C:p.R94R;	exonic	ENSG00000263417	synonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.A280C:p.R94R;ENSG00000263417:ENST00000594039:exon3:c.A280C:p.R94R;	0.0224954665860694	0.458
18	68309783	G	A	18	70642547	y	y	exonic	GTSCR1	synonymous SNV	GTSCR1:NM_001278515:exon2:c.C279T:p.C93C;	exonic	ENSG00000263417	synonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.C279T:p.C93C;ENSG00000263417:ENST00000594039:exon3:c.C279T:p.C93C;	0.0010432212950173	0.308
18	68309783	G	C	18	70642547	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.C279G:p.C93W;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.C279G:p.C93W;ENSG00000263417:ENST00000594039:exon3:c.C279G:p.C93W;	2.51420108601231E-5	0.01
18	68309783	G	T	18	70642547	y	y	exonic	GTSCR1	stopgain SNV	GTSCR1:NM_001278515:exon2:c.C279A:p.C93X;	exonic	ENSG00000263417	stopgain SNV	ENSG00000263417:ENST00000582578:exon2:c.C279A:p.C93X;ENSG00000263417:ENST00000594039:exon3:c.C279A:p.C93X;	3.67167735397047E-4	0.018
18	68309958	A	C	18	70642722	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.T104G:p.I35S;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.T104G:p.I35S;ENSG00000263417:ENST00000594039:exon3:c.T104G:p.I35S;	0.00260665389251336	0.104
18	68309958	A	G	18	70642722	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.T104C:p.I35T;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.T104C:p.I35T;ENSG00000263417:ENST00000594039:exon3:c.T104C:p.I35T;	0.00142234447622426	0.07
18	68309958	A	T	18	70642722	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.T104A:p.I35N;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.T104A:p.I35N;ENSG00000263417:ENST00000594039:exon3:c.T104A:p.I35N;	0.00353989966388331	0.096
18	68309959	T	A	18	70642723	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.A103T:p.I35F;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.A103T:p.I35F;ENSG00000263417:ENST00000594039:exon3:c.A103T:p.I35F;	3.20486007877862E-4	0.046
18	68309959	T	C	18	70642723	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.A103G:p.I35V;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.A103G:p.I35V;ENSG00000263417:ENST00000594039:exon3:c.A103G:p.I35V;	1.95792866086172E-5	0.0
18	68309959	T	G	18	70642723	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon2:c.A103C:p.I35L;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon2:c.A103C:p.I35L;ENSG00000263417:ENST00000594039:exon3:c.A103C:p.I35L;	0.0010811045993464	0.034
18	68309960	C	A	18	70642724	y	y	splicing	GTSCR1(NM_001278515:exon3:c.103-1G>T)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.103-1G>T;ENST00000594039:exon4:c.103-1G>T)	.	.	0.999635025844865	0.52
18	68309960	C	G	18	70642724	y	y	splicing	GTSCR1(NM_001278515:exon3:c.103-1G>C)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.103-1G>C;ENST00000594039:exon4:c.103-1G>C)	.	.	0.999635025844865	0.496
18	68309960	C	T	18	70642724	y	y	splicing	GTSCR1(NM_001278515:exon3:c.103-1G>A)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.103-1G>A;ENST00000594039:exon4:c.103-1G>A)	.	.	0.999635025844865	0.526
18	68309961	T	A	18	70642725	y	y	splicing	GTSCR1(NM_001278515:exon3:c.103-2A>T)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.103-2A>T;ENST00000594039:exon4:c.103-2A>T)	.	.	0.994818629483213	0.304
18	68309961	T	C	18	70642725	y	y	splicing	GTSCR1(NM_001278515:exon3:c.103-2A>G)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.103-2A>G;ENST00000594039:exon4:c.103-2A>G)	.	.	0.994818629483213	0.304
18	68309961	T	G	18	70642725	y	y	splicing	GTSCR1(NM_001278515:exon3:c.103-2A>C)	.	.	splicing	ENSG00000263417(ENST00000582578:exon3:c.103-2A>C;ENST00000594039:exon4:c.103-2A>C)	.	.	0.994818629483213	0.304
18	68309962	G	A	18	70642726	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00101582249419087	0.178
18	68309962	G	C	18	70642726	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.999167328582509	0.9
18	68309962	G	T	18	70642726	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.878944039637194	0.68
18	68309963	A	C	18	70642727	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.81114181157774E-5	0.018
18	68309963	A	G	18	70642727	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	5.30524527901984E-5	0.006
18	68309963	A	T	18	70642727	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	5.59710645012335E-5	0.002
18	68309964	C	A	18	70642728	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.40347652697844E-5	0.008
18	68309964	C	G	18	70642728	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	9.63065284904611E-6	0.002
18	68309964	C	T	18	70642728	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.79348985872704E-5	0.0
18	68309965	A	C	18	70642729	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00114590793919571	0.164
18	68309965	A	G	18	70642729	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.28955039350723E-5	0.02
18	68309965	A	T	18	70642729	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.963962879956181	0.768
18	68309966	A	C	18	70642730	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00776253554630315	0.112
18	68309966	A	G	18	70642730	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.35611699221842E-5	0.002
18	68309966	A	T	18	70642730	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.0179887146404019	0.108
18	68309967	A	C	18	70642731	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00118045274735791	0.038
18	68309967	A	G	18	70642731	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.76445881051385E-5	0.006
18	68309967	A	T	18	70642731	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00333880228253782	0.038
18	68309968	G	A	18	70642732	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.2666612820531E-5	0.006
18	68309968	G	C	18	70642732	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.997322197496414	0.976
18	68309968	G	T	18	70642732	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.73717720207738E-4	0.05
18	68309969	T	A	18	70642733	y	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.102+2A>T)	.	.	1.78089872013049E-5	0.0
18	68309969	T	C	18	70642733	y	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.102+2A>G)	.	.	2.19921624993831E-5	0.0
18	68309969	T	G	18	70642733	y	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.102+2A>C)	.	.	9.63065284904611E-6	0.0
18	68309970	A	C	18	70642734	y	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.102+1T>G)	.	.	0.0634253283485244	0.47
18	68309970	A	G	18	70642734	y	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.102+1T>C)	.	.	1.67731290427141E-4	0.176
18	68309970	A	T	18	70642734	y	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.102+1T>A)	.	.	0.0169290565081222	0.42
18	68309971	A	C	18	70642735	y	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.T102G:p.F34L;	0.0420587587440934	0.4
18	68309971	A	G	18	70642735	y	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	synonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.T102C:p.F34F;	2.28647396645486E-4	0.006
18	68309971	A	T	18	70642735	y	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.T102A:p.F34L;	0.497186017264034	0.394
18	68310006	T	A	18	70642770	n	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.A67T:p.T23S;	6.36340088948343E-5	0.0
18	68310006	T	C	18	70642770	n	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.A67G:p.T23A;	6.36340088948343E-5	0.004
18	68310006	T	G	18	70642770	n	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.A67C:p.T23P;	6.36340088948343E-5	0.002
18	68310007	T	A	18	70642771	n	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	synonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.A66T:p.S22S;	3.02642503822698E-5	0.008
18	68310007	T	C	18	70642771	n	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	synonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.A66G:p.S22S;	4.04701645548368E-5	0.01
18	68310007	T	G	18	70642771	n	y	intronic	GTSCR1	.	.	exonic	ENSG00000263417	synonymous SNV	ENSG00000263417:ENST00000594039:exon2:c.A66C:p.S22S;	4.04701645548368E-5	0.01
18	68310008	C	A	18	70642772	n	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.66-1G>T)	.	.	3.07620641825897E-5	0.0
18	68310008	C	G	18	70642772	n	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.66-1G>C)	.	.	3.07620641825897E-5	0.0
18	68310008	C	T	18	70642772	n	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.66-1G>A)	.	.	3.07620641825897E-5	0.0
18	68310009	T	A	18	70642773	n	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.66-2A>T)	.	.	1.67738868662274E-5	0.0
18	68310009	T	C	18	70642773	n	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.66-2A>G)	.	.	1.67738868662274E-5	0.0
18	68310009	T	G	18	70642773	n	y	intronic	GTSCR1	.	.	splicing	ENSG00000263417(ENST00000594039:exon3:c.66-2A>C)	.	.	1.67738868662274E-5	0.0
18	68310010	A	C	18	70642774	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	7.84397551808994E-5	0.006
18	68310010	A	G	18	70642774	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	7.84397551808994E-5	0.006
18	68310010	A	T	18	70642774	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	7.84397551808994E-5	0.008
18	68310011	A	C	18	70642775	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.59660858139777E-5	0.004
18	68310011	A	G	18	70642775	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.59660858139777E-5	0.004
18	68310011	A	T	18	70642775	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.59660858139777E-5	0.004
18	68310012	T	A	18	70642776	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.95241758590049E-5	0.0
18	68310012	T	C	18	70642776	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.95241758590049E-5	0.0
18	68310012	T	G	18	70642776	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.95241758590049E-5	0.0
18	68310013	T	A	18	70642777	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.30338091304305E-5	0.0
18	68310013	T	C	18	70642777	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.30338091304305E-5	0.0
18	68310013	T	G	18	70642777	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.30338091304305E-5	0.0
18	68310014	G	A	18	70642778	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.19415310822882E-5	0.006
18	68310014	G	C	18	70642778	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.80332477406426E-5	0.0
18	68310014	G	T	18	70642778	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.80332477406426E-5	0.002
18	68310015	A	C	18	70642779	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.6857887130806E-5	0.004
18	68310015	A	G	18	70642779	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.6857887130806E-5	0.004
18	68310015	A	T	18	70642779	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.6857887130806E-5	0.004
18	68310016	A	C	18	70642780	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.4403840789577E-4	0.006
18	68310016	A	G	18	70642780	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	6.16979026867853E-4	0.006
18	68310016	A	T	18	70642780	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	6.38118228050303E-4	0.006
18	68310017	A	C	18	70642781	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.55183766894313E-5	0.008
18	68310017	A	G	18	70642781	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.55183766894313E-5	0.008
18	68310017	A	T	18	70642781	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	7.38258961194127E-5	0.008
18	68310018	G	A	18	70642782	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.45277156108894E-5	0.0
18	68310018	G	C	18	70642782	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.45277156108894E-5	0.0
18	68310018	G	T	18	70642782	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	2.45277156108894E-5	0.0
18	68310019	T	A	18	70642783	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.6857887130806E-5	0.004
18	68310019	T	C	18	70642783	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.6857887130806E-5	0.004
18	68310019	T	G	18	70642783	n	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.6857887130806E-5	0.004
18	68317838	T	A	18	70650602	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	9.4741443100831E-6	0.0
18	68317838	T	C	18	70650602	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	6.13350613825342E-6	0.004
18	68317838	T	G	18	70650602	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	6.13350613825342E-6	0.004
18	68317839	T	A	18	70650603	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	4.45443544245311E-5	0.002
18	68317839	T	C	18	70650603	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.02870601646014E-5	0.0
18	68317839	T	G	18	70650603	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.27145488438373E-5	0.0
18	68317840	G	A	18	70650604	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	1.37163326501772E-5	0.0
18	68317840	G	C	18	70650604	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.43772779594463E-5	0.03
18	68317840	G	T	18	70650604	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	8.61865159348987E-5	0.002
18	68317841	C	A	18	70650605	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.135803086064852	0.226
18	68317841	C	G	18	70650605	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.0619527117911043	0.352
18	68317841	C	T	18	70650605	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.266698015908074	0.212
18	68317842	T	A	18	70650606	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00932597862534787	0.232
18	68317842	T	C	18	70650606	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.0107355690395917	0.18
18	68317842	T	G	18	70650606	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.00692711211287789	0.222
18	68317843	T	A	18	70650607	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.818820819477722	0.506
18	68317843	T	C	18	70650607	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	3.55735712561046E-4	0.148
18	68317843	T	G	18	70650607	y	y	intronic	GTSCR1	.	.	intronic	ENSG00000263417	.	.	0.900064612885681	0.53
18	68317844	A	C	18	70650608	y	y	splicing	GTSCR1(NM_001278515:exon2:c.102+2T>G)	.	.	splicing	ENSG00000263417(ENST00000582578:exon2:c.102+2T>G)	.	.	0.995276313536447	0.358
18	68317844	A	G	18	70650608	y	y	splicing	GTSCR1(NM_001278515:exon2:c.102+2T>C)	.	.	splicing	ENSG00000263417(ENST00000582578:exon2:c.102+2T>C)	.	.	0.339834582744027	0.426
18	68317844	A	T	18	70650608	y	y	splicing	GTSCR1(NM_001278515:exon2:c.102+2T>A)	.	.	splicing	ENSG00000263417(ENST00000582578:exon2:c.102+2T>A)	.	.	0.995276313536447	0.37
18	68317845	C	A	18	70650609	y	y	splicing	GTSCR1(NM_001278515:exon2:c.102+1G>T)	.	.	splicing	ENSG00000263417(ENST00000582578:exon2:c.102+1G>T)	.	.	0.999786866081937	0.58
18	68317845	C	G	18	70650609	y	y	splicing	GTSCR1(NM_001278515:exon2:c.102+1G>C)	.	.	splicing	ENSG00000263417(ENST00000582578:exon2:c.102+1G>C)	.	.	0.999786866081937	0.578
18	68317845	C	T	18	70650609	y	y	splicing	GTSCR1(NM_001278515:exon2:c.102+1G>A)	.	.	splicing	ENSG00000263417(ENST00000582578:exon2:c.102+1G>A)	.	.	0.999786866081937	0.572
18	68317846	C	A	18	70650610	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon1:c.G102T:p.E34D;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon1:c.G102T:p.E34D;	0.661139969407748	0.672
18	68317846	C	G	18	70650610	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon1:c.G102C:p.E34D;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon1:c.G102C:p.E34D;	0.887263421407302	0.666
18	68317846	C	T	18	70650610	y	y	exonic	GTSCR1	synonymous SNV	GTSCR1:NM_001278515:exon1:c.G102A:p.E34E;	exonic	ENSG00000263417	synonymous SNV	ENSG00000263417:ENST00000582578:exon1:c.G102A:p.E34E;	0.547782764514121	0.57
18	68317847	T	A	18	70650611	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon1:c.A101T:p.E34V;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon1:c.A101T:p.E34V;	0.11472598768492	0.41
18	68317847	T	C	18	70650611	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon1:c.A101G:p.E34G;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon1:c.A101G:p.E34G;	0.204197733002774	0.364
18	68317847	T	G	18	70650611	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon1:c.A101C:p.E34A;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon1:c.A101C:p.E34A;	0.190014532831582	0.396
18	68317848	C	A	18	70650612	y	y	exonic	GTSCR1	stopgain SNV	GTSCR1:NM_001278515:exon1:c.G100T:p.E34X;	exonic	ENSG00000263417	stopgain SNV	ENSG00000263417:ENST00000582578:exon1:c.G100T:p.E34X;	4.29525020293866E-4	0.068
18	68317848	C	G	18	70650612	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon1:c.G100C:p.E34Q;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon1:c.G100C:p.E34Q;	1.21946853154343E-5	0.002
18	68317848	C	T	18	70650612	y	y	exonic	GTSCR1	nonsynonymous SNV	GTSCR1:NM_001278515:exon1:c.G100A:p.E34K;	exonic	ENSG00000263417	nonsynonymous SNV	ENSG00000263417:ENST00000582578:exon1:c.G100A:p.E34K;	2.18754770055449E-5	0.0
18	70205607	A	C	18	72538372	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon5:c.T479G:p.V160G;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon5:c.T479G:p.V160G;ENSG00000141668:ENST00000581073:exon3:c.T137G:p.V46G;ENSG00000141668:ENST00000584764:exon3:c.T131G:p.V44G;ENSG00000141668:ENST00000585159:exon4:c.T479G:p.V160G;	0.684598640018022	0.302
18	70205607	A	G	18	72538372	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon5:c.T479C:p.V160A;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon5:c.T479C:p.V160A;ENSG00000141668:ENST00000581073:exon3:c.T137C:p.V46A;ENSG00000141668:ENST00000584764:exon3:c.T131C:p.V44A;ENSG00000141668:ENST00000585159:exon4:c.T479C:p.V160A;	0.874631187184779	0.446
18	70205607	A	T	18	72538372	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon5:c.T479A:p.V160D;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon5:c.T479A:p.V160D;ENSG00000141668:ENST00000581073:exon3:c.T137A:p.V46D;ENSG00000141668:ENST00000584764:exon3:c.T131A:p.V44D;ENSG00000141668:ENST00000585159:exon4:c.T479A:p.V160D;	0.845144823762605	0.4
18	70205608	C	A	18	72538373	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon5:c.G478T:p.V160F;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon5:c.G478T:p.V160F;ENSG00000141668:ENST00000581073:exon3:c.G136T:p.V46F;ENSG00000141668:ENST00000584764:exon3:c.G130T:p.V44F;ENSG00000141668:ENST00000585159:exon4:c.G478T:p.V160F;	0.999802036047756	0.974
18	70205608	C	G	18	72538373	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon5:c.G478C:p.V160L;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon5:c.G478C:p.V160L;ENSG00000141668:ENST00000581073:exon3:c.G136C:p.V46L;ENSG00000141668:ENST00000584764:exon3:c.G130C:p.V44L;ENSG00000141668:ENST00000585159:exon4:c.G478C:p.V160L;	0.999828976936512	0.956
18	70205608	C	T	18	72538373	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon5:c.G478A:p.V160I;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon5:c.G478A:p.V160I;ENSG00000141668:ENST00000581073:exon3:c.G136A:p.V46I;ENSG00000141668:ENST00000584764:exon3:c.G130A:p.V44I;ENSG00000141668:ENST00000585159:exon4:c.G478A:p.V160I;	0.999736312699237	0.796
18	70205609	C	A	18	72538374	y	y	splicing	CBLN2(NM_182511:exon6:c.478-1G>T)	.	.	splicing	ENSG00000141668(ENST00000269503:exon6:c.478-1G>T;ENST00000585159:exon5:c.478-1G>T;ENST00000584764:exon4:c.130-1G>T;ENST00000581073:exon4:c.136-1G>T)	.	.	0.999990361384395	0.938
18	70205609	C	G	18	72538374	y	y	splicing	CBLN2(NM_182511:exon6:c.478-1G>C)	.	.	splicing	ENSG00000141668(ENST00000269503:exon6:c.478-1G>C;ENST00000585159:exon5:c.478-1G>C;ENST00000584764:exon4:c.130-1G>C;ENST00000581073:exon4:c.136-1G>C)	.	.	0.999990361384395	0.938
18	70205609	C	T	18	72538374	y	y	splicing	CBLN2(NM_182511:exon6:c.478-1G>A)	.	.	splicing	ENSG00000141668(ENST00000269503:exon6:c.478-1G>A;ENST00000585159:exon5:c.478-1G>A;ENST00000584764:exon4:c.130-1G>A;ENST00000581073:exon4:c.136-1G>A)	.	.	0.999990361384395	0.938
18	70205610	T	A	18	72538375	y	y	splicing	CBLN2(NM_182511:exon6:c.478-2A>T)	.	.	splicing	ENSG00000141668(ENST00000269503:exon6:c.478-2A>T;ENST00000585159:exon5:c.478-2A>T;ENST00000584764:exon4:c.130-2A>T;ENST00000581073:exon4:c.136-2A>T)	.	.	0.999988247793601	0.93
18	70205610	T	C	18	72538375	y	y	splicing	CBLN2(NM_182511:exon6:c.478-2A>G)	.	.	splicing	ENSG00000141668(ENST00000269503:exon6:c.478-2A>G;ENST00000585159:exon5:c.478-2A>G;ENST00000584764:exon4:c.130-2A>G;ENST00000581073:exon4:c.136-2A>G)	.	.	0.999988247793601	0.93
18	70205610	T	G	18	72538375	y	y	splicing	CBLN2(NM_182511:exon6:c.478-2A>C)	.	.	splicing	ENSG00000141668(ENST00000269503:exon6:c.478-2A>C;ENST00000585159:exon5:c.478-2A>C;ENST00000584764:exon4:c.130-2A>C;ENST00000581073:exon4:c.136-2A>C)	.	.	0.999988247793601	0.93
18	70205611	A	C	18	72538376	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.917285079385475	0.652
18	70205611	A	G	18	72538376	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.88968400700724E-5	0.014
18	70205611	A	T	18	72538376	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00142928248520272	0.222
18	70205612	A	C	18	72538377	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.31255483134307E-4	0.018
18	70205612	A	G	18	72538377	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	6.36892323158341E-5	0.01
18	70205612	A	T	18	72538377	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.54897084937941E-4	0.028
18	70205613	A	C	18	72538378	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.930400228957483	0.648
18	70205613	A	G	18	72538378	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.9345625136527E-4	0.14
18	70205613	A	T	18	72538378	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.992092395599799	0.63
18	70205614	A	C	18	72538379	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999919358609482	0.954
18	70205614	A	G	18	72538379	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.021463857845884	0.126
18	70205614	A	T	18	72538379	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.986125885572171	0.766
18	70205615	T	A	18	72538380	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	5.79107847929922E-5	0.006
18	70205615	T	C	18	72538380	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.17033150829488E-4	0.0
18	70205615	T	G	18	72538380	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	5.73952850085144E-5	0.004
18	70205616	G	A	18	72538381	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	8.76819348777382E-4	0.086
18	70205616	G	C	18	72538381	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00883549108262257	0.178
18	70205616	G	T	18	72538381	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0307325723897389	0.128
18	70205617	C	A	18	72538382	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.31470279060816E-5	0.04
18	70205617	C	G	18	72538382	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.12753659965361E-5	0.03
18	70205617	C	T	18	72538382	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.66959831058338E-4	0.054
18	70205618	A	C	18	72538383	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.998198346600785	0.902
18	70205618	A	G	18	72538383	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.507444037454309	0.508
18	70205618	A	T	18	72538383	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999976367947654	0.968
18	70205619	G	A	18	72538384	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.957317523682655	0.712
18	70205619	G	C	18	72538384	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.913321456325297	0.68
18	70205619	G	T	18	72538384	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.98024528591334	0.732
18	70205620	A	C	18	72538385	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.998947882633914	0.888
18	70205620	A	G	18	72538385	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.463297453974879	0.522
18	70205620	A	T	18	72538385	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999477248870816	0.886
18	70205880	C	A	18	72538645	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	5.77238830199915E-4	0.008
18	70205880	C	G	18	72538645	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0010573886566516	0.028
18	70205880	C	T	18	72538645	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	5.77238830199915E-4	0.032
18	70205881	T	A	18	72538646	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00141725913160811	0.146
18	70205881	T	C	18	72538646	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	7.67957403642846E-4	0.174
18	70205881	T	G	18	72538646	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	8.21085938773263E-5	0.004
18	70205882	A	C	18	72538647	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.648051600481657	0.432
18	70205882	A	G	18	72538647	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.465525628221655	0.338
18	70205882	A	T	18	72538647	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.933536463595511	0.554
18	70205883	C	A	18	72538648	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.997759526748057	0.8
18	70205883	C	G	18	72538648	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999482408317318	0.95
18	70205883	C	T	18	72538648	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.998800603402239	0.966
18	70205884	C	A	18	72538649	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00161990972346799	0.106
18	70205884	C	G	18	72538649	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.5541486410838E-4	0.102
18	70205884	C	T	18	72538649	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	7.57257881855579E-4	0.08
18	70205885	C	A	18	72538650	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.732468914117626	0.664
18	70205885	C	G	18	72538650	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.778139472688365	0.72
18	70205885	C	T	18	72538650	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00116025624468833	0.058
18	70205886	A	C	18	72538651	y	y	splicing	CBLN2(NM_182511:exon5:c.477+2T>G)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.477+2T>G;ENST00000585159:exon4:c.477+2T>G;ENST00000584764:exon3:c.129+2T>G;ENST00000581073:exon3:c.135+2T>G)	.	.	0.999988247793601	0.932
18	70205886	A	G	18	72538651	y	y	splicing	CBLN2(NM_182511:exon5:c.477+2T>C)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.477+2T>C;ENST00000585159:exon4:c.477+2T>C;ENST00000584764:exon3:c.129+2T>C;ENST00000581073:exon3:c.135+2T>C)	.	.	0.999943260809542	0.872
18	70205886	A	T	18	72538651	y	y	splicing	CBLN2(NM_182511:exon5:c.477+2T>A)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.477+2T>A;ENST00000585159:exon4:c.477+2T>A;ENST00000584764:exon3:c.129+2T>A;ENST00000581073:exon3:c.135+2T>A)	.	.	0.999988247793601	0.932
18	70205887	C	A	18	72538652	y	y	splicing	CBLN2(NM_182511:exon5:c.477+1G>T)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.477+1G>T;ENST00000585159:exon4:c.477+1G>T;ENST00000584764:exon3:c.129+1G>T;ENST00000581073:exon3:c.135+1G>T)	.	.	0.999989072007339	0.934
18	70205887	C	G	18	72538652	y	y	splicing	CBLN2(NM_182511:exon5:c.477+1G>C)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.477+1G>C;ENST00000585159:exon4:c.477+1G>C;ENST00000584764:exon3:c.129+1G>C;ENST00000581073:exon3:c.135+1G>C)	.	.	0.999989072007339	0.934
18	70205887	C	T	18	72538652	y	y	splicing	CBLN2(NM_182511:exon5:c.477+1G>A)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.477+1G>A;ENST00000585159:exon4:c.477+1G>A;ENST00000584764:exon3:c.129+1G>A;ENST00000581073:exon3:c.135+1G>A)	.	.	0.999989072007339	0.934
18	70205888	C	A	18	72538653	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.G477T:p.Q159H;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.G477T:p.Q159H;ENSG00000141668:ENST00000581073:exon2:c.G135T:p.Q45H;ENSG00000141668:ENST00000584764:exon2:c.G129T:p.Q43H;ENSG00000141668:ENST00000585159:exon3:c.G477T:p.Q159H;	0.999961919607863	0.998
18	70205888	C	G	18	72538653	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.G477C:p.Q159H;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.G477C:p.Q159H;ENSG00000141668:ENST00000581073:exon2:c.G135C:p.Q45H;ENSG00000141668:ENST00000584764:exon2:c.G129C:p.Q43H;ENSG00000141668:ENST00000585159:exon3:c.G477C:p.Q159H;	0.999987121680149	0.994
18	70205888	C	T	18	72538653	y	y	exonic	CBLN2	synonymous SNV	CBLN2:NM_182511:exon4:c.G477A:p.Q159Q;	exonic	ENSG00000141668	synonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.G477A:p.Q159Q;ENSG00000141668:ENST00000581073:exon2:c.G135A:p.Q45Q;ENSG00000141668:ENST00000584764:exon2:c.G129A:p.Q43Q;ENSG00000141668:ENST00000585159:exon3:c.G477A:p.Q159Q;	0.999947019780195	0.994
18	70205889	T	A	18	72538654	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.A476T:p.Q159L;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.A476T:p.Q159L;ENSG00000141668:ENST00000581073:exon2:c.A134T:p.Q45L;ENSG00000141668:ENST00000584764:exon2:c.A128T:p.Q43L;ENSG00000141668:ENST00000585159:exon3:c.A476T:p.Q159L;	0.999756353580046	0.994
18	70205889	T	C	18	72538654	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.A476G:p.Q159R;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.A476G:p.Q159R;ENSG00000141668:ENST00000581073:exon2:c.A134G:p.Q45R;ENSG00000141668:ENST00000584764:exon2:c.A128G:p.Q43R;ENSG00000141668:ENST00000585159:exon3:c.A476G:p.Q159R;	0.99924610084825	0.996
18	70205889	T	G	18	72538654	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.A476C:p.Q159P;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.A476C:p.Q159P;ENSG00000141668:ENST00000581073:exon2:c.A134C:p.Q45P;ENSG00000141668:ENST00000584764:exon2:c.A128C:p.Q43P;ENSG00000141668:ENST00000585159:exon3:c.A476C:p.Q159P;	0.998314933826526	0.952
18	70205890	G	A	18	72538655	y	y	exonic	CBLN2	stopgain SNV	CBLN2:NM_182511:exon4:c.C475T:p.Q159X;	exonic	ENSG00000141668	stopgain SNV	ENSG00000141668:ENST00000269503:exon4:c.C475T:p.Q159X;ENSG00000141668:ENST00000581073:exon2:c.C133T:p.Q45X;ENSG00000141668:ENST00000584764:exon2:c.C127T:p.Q43X;ENSG00000141668:ENST00000585159:exon3:c.C475T:p.Q159X;	0.996963758375135	0.844
18	70205890	G	C	18	72538655	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.C475G:p.Q159E;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.C475G:p.Q159E;ENSG00000141668:ENST00000581073:exon2:c.C133G:p.Q45E;ENSG00000141668:ENST00000584764:exon2:c.C127G:p.Q43E;ENSG00000141668:ENST00000585159:exon3:c.C475G:p.Q159E;	0.969555865783957	0.63
18	70205890	G	T	18	72538655	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.C475A:p.Q159K;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.C475A:p.Q159K;ENSG00000141668:ENST00000581073:exon2:c.C133A:p.Q45K;ENSG00000141668:ENST00000584764:exon2:c.C127A:p.Q43K;ENSG00000141668:ENST00000585159:exon3:c.C475A:p.Q159K;	0.891932443942234	0.726
18	70206006	A	C	18	72538771	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.T359G:p.V120G;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.T359G:p.V120G;ENSG00000141668:ENST00000581073:exon2:c.T17G:p.V6G;ENSG00000141668:ENST00000584764:exon2:c.T11G:p.V4G;ENSG00000141668:ENST00000585159:exon3:c.T359G:p.V120G;	0.208553724565303	0.266
18	70206006	A	G	18	72538771	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.T359C:p.V120A;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.T359C:p.V120A;ENSG00000141668:ENST00000581073:exon2:c.T17C:p.V6A;ENSG00000141668:ENST00000584764:exon2:c.T11C:p.V4A;ENSG00000141668:ENST00000585159:exon3:c.T359C:p.V120A;	0.563516669380359	0.38
18	70206006	A	T	18	72538771	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.T359A:p.V120E;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.T359A:p.V120E;ENSG00000141668:ENST00000581073:exon2:c.T17A:p.V6E;ENSG00000141668:ENST00000584764:exon2:c.T11A:p.V4E;ENSG00000141668:ENST00000585159:exon3:c.T359A:p.V120E;	0.387344581206975	0.36
18	70206007	C	A	18	72538772	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.G358T:p.V120L;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.G358T:p.V120L;ENSG00000141668:ENST00000581073:exon2:c.G16T:p.V6L;ENSG00000141668:ENST00000584764:exon2:c.G10T:p.V4L;ENSG00000141668:ENST00000585159:exon3:c.G358T:p.V120L;	0.99923918406192	0.766
18	70206007	C	G	18	72538772	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.G358C:p.V120L;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.G358C:p.V120L;ENSG00000141668:ENST00000581073:exon2:c.G16C:p.V6L;ENSG00000141668:ENST00000584764:exon2:c.G10C:p.V4L;ENSG00000141668:ENST00000585159:exon3:c.G358C:p.V120L;	0.999468398702148	0.818
18	70206007	C	T	18	72538772	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon4:c.G358A:p.V120I;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon4:c.G358A:p.V120I;ENSG00000141668:ENST00000581073:exon2:c.G16A:p.V6I;ENSG00000141668:ENST00000584764:exon2:c.G10A:p.V4I;ENSG00000141668:ENST00000585159:exon3:c.G358A:p.V120I;	0.998100583569511	0.66
18	70206008	C	A	18	72538773	y	y	splicing	CBLN2(NM_182511:exon5:c.358-1G>T)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.358-1G>T;ENST00000585159:exon4:c.358-1G>T;ENST00000584764:exon3:c.10-1G>T;ENST00000581073:exon3:c.16-1G>T)	.	.	0.999989072007339	0.934
18	70206008	C	G	18	72538773	y	y	splicing	CBLN2(NM_182511:exon5:c.358-1G>C)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.358-1G>C;ENST00000585159:exon4:c.358-1G>C;ENST00000584764:exon3:c.10-1G>C;ENST00000581073:exon3:c.16-1G>C)	.	.	0.999989072007339	0.934
18	70206008	C	T	18	72538773	y	y	splicing	CBLN2(NM_182511:exon5:c.358-1G>A)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.358-1G>A;ENST00000585159:exon4:c.358-1G>A;ENST00000584764:exon3:c.10-1G>A;ENST00000581073:exon3:c.16-1G>A)	.	.	0.999989072007339	0.934
18	70206009	T	A	18	72538774	y	y	splicing	CBLN2(NM_182511:exon5:c.358-2A>T)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.358-2A>T;ENST00000585159:exon4:c.358-2A>T;ENST00000584764:exon3:c.10-2A>T;ENST00000581073:exon3:c.16-2A>T)	.	.	0.999988247793601	0.932
18	70206009	T	C	18	72538774	y	y	splicing	CBLN2(NM_182511:exon5:c.358-2A>G)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.358-2A>G;ENST00000585159:exon4:c.358-2A>G;ENST00000584764:exon3:c.10-2A>G;ENST00000581073:exon3:c.16-2A>G)	.	.	0.999988247793601	0.932
18	70206009	T	G	18	72538774	y	y	splicing	CBLN2(NM_182511:exon5:c.358-2A>C)	.	.	splicing	ENSG00000141668(ENST00000269503:exon5:c.358-2A>C;ENST00000585159:exon4:c.358-2A>C;ENST00000584764:exon3:c.10-2A>C;ENST00000581073:exon3:c.16-2A>C)	.	.	0.999988247793601	0.932
18	70206010	G	A	18	72538775	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.991442551485478	0.466
18	70206010	G	C	18	72538775	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999859180674416	0.918
18	70206010	G	T	18	72538775	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999090126280099	0.838
18	70206011	A	C	18	72538776	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.5335080166577E-4	0.026
18	70206011	A	G	18	72538776	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.70492143832204E-4	0.004
18	70206011	A	T	18	72538776	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.41002813543007E-4	0.012
18	70206012	A	C	18	72538777	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00184370681876869	0.28
18	70206012	A	G	18	72538777	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00152812101110407	0.034
18	70206012	A	T	18	72538777	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00214605007901479	0.198
18	70206013	A	C	18	72538778	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.305924255472917	0.514
18	70206013	A	G	18	72538778	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.124952713127909	0.402
18	70206013	A	T	18	72538778	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.394329853687748	0.52
18	70206014	A	C	18	72538779	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	4.84662015722744E-4	0.052
18	70206014	A	G	18	72538779	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	8.62879189416631E-5	0.004
18	70206014	A	T	18	72538779	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	4.96264240663413E-4	0.038
18	70206015	A	C	18	72538780	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	7.34609916518029E-4	0.052
18	70206015	A	G	18	72538780	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	5.68997076182375E-4	0.018
18	70206015	A	T	18	72538780	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	6.35970810719796E-4	0.046
18	70206016	G	A	18	72538781	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.26897450221296E-4	0.022
18	70206016	G	C	18	72538781	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.01293797371057E-4	0.026
18	70206016	G	T	18	72538781	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.93712672656831E-4	0.04
18	70206017	A	C	18	72538782	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00703688663408653	0.202
18	70206017	A	G	18	72538782	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00271887161634555	0.102
18	70206017	A	T	18	72538782	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00913409541828907	0.234
18	70206018	A	C	18	72538783	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0203492140652779	0.25
18	70206018	A	G	18	72538783	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0279308547839755	0.16
18	70206018	A	T	18	72538783	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0205081957829538	0.308
18	70206019	G	A	18	72538784	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.18707423987912E-6	0.01
18	70206019	G	C	18	72538784	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.07265717130935E-4	0.024
18	70206019	G	T	18	72538784	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.33323697319687E-5	0.02
18	70209031	C	A	18	72541796	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.20292628143381E-4	0.022
18	70209031	C	G	18	72541796	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.08683331073131E-4	0.012
18	70209031	C	T	18	72541796	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.20292628143381E-4	0.01
18	70209032	G	A	18	72541797	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.89967944175706E-4	0.082
18	70209032	G	C	18	72541797	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.95009950773928E-4	0.014
18	70209032	G	T	18	72541797	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.27752111723067E-4	0.012
18	70209033	G	A	18	72541798	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00176414354428481	0.016
18	70209033	G	C	18	72541798	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0150070433907719	0.06
18	70209033	G	T	18	72541798	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00814396203654825	0.108
18	70209034	C	A	18	72541799	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999741571216652	0.908
18	70209034	C	G	18	72541799	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.998541009867715	0.986
18	70209034	C	T	18	72541799	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999501541010613	0.962
18	70209035	T	A	18	72541800	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.990291317944018	0.814
18	70209035	T	C	18	72541800	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.879372153118098	0.618
18	70209035	T	G	18	72541800	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.992073975974014	0.838
18	70209036	G	A	18	72541801	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00574403503102445	0.086
18	70209036	G	C	18	72541801	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	5.51734601542006E-4	0.08
18	70209036	G	T	18	72541801	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	6.1265854190835E-4	0.092
18	70209037	A	C	18	72541802	y	y	splicing	CBLN2(NM_182511:exon4:c.357+2T>G)	.	.	splicing	ENSG00000141668(ENST00000269503:exon4:c.357+2T>G;ENST00000585159:exon3:c.357+2T>G)	.	.	0.999981808176352	0.92
18	70209037	A	G	18	72541802	y	y	splicing	CBLN2(NM_182511:exon4:c.357+2T>C)	.	.	splicing	ENSG00000141668(ENST00000269503:exon4:c.357+2T>C;ENST00000585159:exon3:c.357+2T>C)	.	.	0.999794212139678	0.884
18	70209037	A	T	18	72541802	y	y	splicing	CBLN2(NM_182511:exon4:c.357+2T>A)	.	.	splicing	ENSG00000141668(ENST00000269503:exon4:c.357+2T>A;ENST00000585159:exon3:c.357+2T>A)	.	.	0.999981808176352	0.91
18	70209038	C	A	18	72541803	y	y	splicing	CBLN2(NM_182511:exon4:c.357+1G>T)	.	.	splicing	ENSG00000141668(ENST00000269503:exon4:c.357+1G>T;ENST00000585159:exon3:c.357+1G>T)	.	.	0.999986675681007	0.934
18	70209038	C	G	18	72541803	y	y	splicing	CBLN2(NM_182511:exon4:c.357+1G>C)	.	.	splicing	ENSG00000141668(ENST00000269503:exon4:c.357+1G>C;ENST00000585159:exon3:c.357+1G>C)	.	.	0.999986675681007	0.934
18	70209038	C	T	18	72541803	y	y	splicing	CBLN2(NM_182511:exon4:c.357+1G>A)	.	.	splicing	ENSG00000141668(ENST00000269503:exon4:c.357+1G>A;ENST00000585159:exon3:c.357+1G>A)	.	.	0.999986675681007	0.934
18	70209039	C	A	18	72541804	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon3:c.G357T:p.Q119H;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon3:c.G357T:p.Q119H;ENSG00000141668:ENST00000585159:exon2:c.G357T:p.Q119H;	0.999991970887738	0.998
18	70209039	C	G	18	72541804	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon3:c.G357C:p.Q119H;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon3:c.G357C:p.Q119H;ENSG00000141668:ENST00000585159:exon2:c.G357C:p.Q119H;	0.999998132351199	0.998
18	70209039	C	T	18	72541804	y	y	exonic	CBLN2	synonymous SNV	CBLN2:NM_182511:exon3:c.G357A:p.Q119Q;	exonic	ENSG00000141668	synonymous SNV	ENSG00000141668:ENST00000269503:exon3:c.G357A:p.Q119Q;ENSG00000141668:ENST00000585159:exon2:c.G357A:p.Q119Q;	0.999979751051097	0.998
18	70209040	T	A	18	72541805	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon3:c.A356T:p.Q119L;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon3:c.A356T:p.Q119L;ENSG00000141668:ENST00000585159:exon2:c.A356T:p.Q119L;	0.999858246894287	0.992
18	70209040	T	C	18	72541805	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon3:c.A356G:p.Q119R;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon3:c.A356G:p.Q119R;ENSG00000141668:ENST00000585159:exon2:c.A356G:p.Q119R;	0.99987646426949	0.994
18	70209040	T	G	18	72541805	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon3:c.A356C:p.Q119P;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon3:c.A356C:p.Q119P;ENSG00000141668:ENST00000585159:exon2:c.A356C:p.Q119P;	0.99983279887299	0.984
18	70209041	G	A	18	72541806	y	y	exonic	CBLN2	stopgain SNV	CBLN2:NM_182511:exon3:c.C355T:p.Q119X;	exonic	ENSG00000141668	stopgain SNV	ENSG00000141668:ENST00000269503:exon3:c.C355T:p.Q119X;ENSG00000141668:ENST00000585159:exon2:c.C355T:p.Q119X;	0.996429292683482	0.85
18	70209041	G	C	18	72541806	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon3:c.C355G:p.Q119E;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon3:c.C355G:p.Q119E;ENSG00000141668:ENST00000585159:exon2:c.C355G:p.Q119E;	0.691141405680734	0.518
18	70209041	G	T	18	72541806	y	y	exonic	CBLN2	nonsynonymous SNV	CBLN2:NM_182511:exon3:c.C355A:p.Q119K;	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000269503:exon3:c.C355A:p.Q119K;ENSG00000141668:ENST00000585159:exon2:c.C355A:p.Q119K;	0.448978776489578	0.676
18	70209560	A	C	18	72542325	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.00119993597187238	0.176
18	70209560	A	G	18	72542325	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.00131458639656764	0.204
18	70209560	A	T	18	72542325	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.00219269033275385	0.158
18	70209561	C	A	18	72542326	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.619186096968744	0.774
18	70209561	C	G	18	72542326	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.246196658107902	0.652
18	70209561	C	T	18	72542326	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.159198645766156	0.36
18	70209562	C	A	18	72542327	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999938422912956	0.944
18	70209562	C	G	18	72542327	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999938422912956	0.944
18	70209562	C	T	18	72542327	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999938422912956	0.934
18	70209563	T	A	18	72542328	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999967001206676	0.928
18	70209563	T	C	18	72542328	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999967001206676	0.938
18	70209563	T	G	18	72542328	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999967001206676	0.938
18	70209564	G	A	18	72542329	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0144273265933526	0.064
18	70209564	G	C	18	72542329	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999893906961098	0.952
18	70209564	G	T	18	72542329	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.928373612748247	0.712
18	70209565	T	A	18	72542330	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00769373786263521	0.226
18	70209565	T	C	18	72542330	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.011652759482031	0.124
18	70209565	T	G	18	72542330	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00741875109600492	0.114
18	70209566	C	A	18	72542331	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00415819630760314	0.026
18	70209566	C	G	18	72542331	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0019268844949167	0.016
18	70209566	C	T	18	72542331	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0159514357529996	0.078
18	70209567	A	C	18	72542332	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00410981414538677	0.164
18	70209567	A	G	18	72542332	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.04131135094436E-4	0.018
18	70209567	A	T	18	72542332	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.996215619241424	0.882
18	70209568	G	A	18	72542333	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.72382150676297E-4	0.004
18	70209568	G	C	18	72542333	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0762311797830166	0.202
18	70209568	G	T	18	72542333	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0665877456376645	0.22
18	70209569	G	A	18	72542334	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	8.31326055088575E-4	0.002
18	70209569	G	C	18	72542334	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0849929665676177	0.142
18	70209569	G	T	18	72542334	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0123148014370616	0.144
18	70209570	G	A	18	72542335	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0018029367740757	0.016
18	70209570	G	C	18	72542335	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0370838505609824	0.144
18	70209570	G	T	18	72542335	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.093414942021587	0.244
18	70209571	C	A	18	72542336	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00195428431064692	0.012
18	70209571	C	G	18	72542336	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00180639922353029	0.016
18	70209571	C	T	18	72542336	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0134762298606995	0.152
18	70209572	A	C	18	72542337	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.957658968628648	0.826
18	70209572	A	G	18	72542337	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.0283060942318725	0.28
18	70209572	A	T	18	72542337	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999903443980561	0.966
18	70209573	C	A	18	72542338	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.08369889113964E-5	0.002
18	70209573	C	G	18	72542338	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.99426561977595E-5	0.096
18	70209573	C	T	18	72542338	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.4247799122463E-4	0.032
18	70210713	G	A	18	72543478	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.32865407515543E-5	0.0
18	70210713	G	C	18	72543478	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	5.46926408153306E-5	0.0
18	70210713	G	T	18	72543478	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.32865407515543E-5	0.0
18	70210714	T	A	18	72543479	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	7.76188404951894E-4	0.118
18	70210714	T	C	18	72543479	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.82369813337221E-4	0.004
18	70210714	T	G	18	72543479	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	6.66055746852304E-5	0.0
18	70210715	G	A	18	72543480	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.03063301328672E-4	0.004
18	70210715	G	C	18	72543480	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	8.39657201105373E-5	0.038
18	70210715	G	T	18	72543480	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	8.31487952393404E-5	0.004
18	70210716	G	A	18	72543481	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.00117256802249252	0.072
18	70210716	G	C	18	72543481	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.32461293582475E-4	0.054
18	70210716	G	T	18	72543481	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	4.15804485571214E-4	0.056
18	70210717	T	A	18	72543482	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.92278998816957	0.668
18	70210717	T	C	18	72543482	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.917896321813907	0.608
18	70210717	T	G	18	72543482	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.477995774557408	0.614
18	70210718	T	A	18	72543483	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999941164607944	0.942
18	70210718	T	C	18	72543483	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.986632786685563	0.866
18	70210718	T	G	18	72543483	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999967388894965	0.952
18	70210719	A	C	18	72543484	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668(ENST00000584764:exon2:c.9+2T>G)	.	.	0.999972482390482	0.926
18	70210719	A	G	18	72543484	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668(ENST00000584764:exon2:c.9+2T>C)	.	.	0.971929612730846	0.588
18	70210719	A	T	18	72543484	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668(ENST00000584764:exon2:c.9+2T>A)	.	.	0.999972482390482	0.924
18	70210720	C	A	18	72543485	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668(ENST00000584764:exon2:c.9+1G>T)	.	.	0.999972457103498	0.934
18	70210720	C	G	18	72543485	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668(ENST00000584764:exon2:c.9+1G>C)	.	.	0.999972457103498	0.944
18	70210720	C	T	18	72543485	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668(ENST00000584764:exon2:c.9+1G>A)	.	.	0.999972457103498	0.934
18	70210721	C	A	18	72543486	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000584764:exon1:c.G9T:p.Q3H;	0.998566292674536	0.786
18	70210721	C	G	18	72543486	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000584764:exon1:c.G9C:p.Q3H;	0.999950063876461	0.91
18	70210721	C	T	18	72543486	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	synonymous SNV	ENSG00000141668:ENST00000584764:exon1:c.G9A:p.Q3Q;	0.999958139363936	0.986
18	70210722	T	A	18	72543487	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000584764:exon1:c.A8T:p.Q3L;	0.981182594045896	0.77
18	70210722	T	C	18	72543487	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000584764:exon1:c.A8G:p.Q3R;	0.975086911870018	0.72
18	70210722	T	G	18	72543487	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000584764:exon1:c.A8C:p.Q3P;	0.953048124230275	0.646
18	70210723	G	A	18	72543488	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	stopgain SNV	ENSG00000141668:ENST00000584764:exon1:c.C7T:p.Q3X;	0.993086808330248	0.926
18	70210723	G	C	18	72543488	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000584764:exon1:c.C7G:p.Q3E;	0.00210936515893245	0.036
18	70210723	G	T	18	72543488	y	y	UTR5	CBLN2	.	.	exonic	ENSG00000141668	nonsynonymous SNV	ENSG00000141668:ENST00000584764:exon1:c.C7A:p.Q3K;	0.0089245777495042	0.126
18	70210764	C	A	18	72543529	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	2.89755020337632E-5	.
18	70210764	C	G	18	72543529	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	1.25312092813916E-4	.
18	70210764	C	T	18	72543529	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	1.74194327498209E-4	.
18	70210765	T	A	18	72543530	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.0156569886230324	.
18	70210765	T	C	18	72543530	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	5.97285759338888E-4	.
18	70210765	T	G	18	72543530	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.0372274684679852	.
18	70210766	C	A	18	72543531	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999907070429957	.
18	70210766	C	G	18	72543531	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999907070429957	.
18	70210766	C	T	18	72543531	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999907070429957	.
18	70210767	T	A	18	72543532	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999949471631157	.
18	70210767	T	C	18	72543532	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999949471631157	.
18	70210767	T	G	18	72543532	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999949471631157	.
18	70210768	G	A	18	72543533	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.944659948452743	.
18	70210768	G	C	18	72543533	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.999984188822572	.
18	70210768	G	T	18	72543533	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.99965475098914	.
18	70210769	C	A	18	72543534	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.0151740853845179	.
18	70210769	C	G	18	72543534	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.00492386841731861	.
18	70210769	C	T	18	72543534	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.0689885927249109	.
18	70210770	T	A	18	72543535	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.00518572616486324	.
18	70210770	T	C	18	72543535	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.113617013648091	.
18	70210770	T	G	18	72543535	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.00281744102518764	.
18	70210771	T	A	18	72543536	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	1.90898104997899E-5	.
18	70210771	T	C	18	72543536	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	2.19762222048888E-4	.
18	70210771	T	G	18	72543536	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	2.65617977180823E-5	.
18	70210772	A	C	18	72543537	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.504235511623926	.
18	70210772	A	G	18	72543537	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	1.36245379687517E-4	.
18	70210772	A	T	18	72543537	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.588467923801964	.
18	70210773	G	A	18	72543538	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.124792948631653	.
18	70210773	G	C	18	72543538	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.970220716572068	.
18	70210773	G	T	18	72543538	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.962193818910901	.
18	70210774	A	C	18	72543539	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.987715403525887	.
18	70210774	A	G	18	72543539	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.0163077611821721	.
18	70210774	A	T	18	72543539	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.986138130587751	.
18	70210775	G	A	18	72543540	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.00347258219325781	.
18	70210775	G	C	18	72543540	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.808302847346913	.
18	70210775	G	T	18	72543540	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.79047765221639	.
18	70210776	A	C	18	72543541	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.587761626419605	.
18	70210776	A	G	18	72543541	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.048335885997959	.
18	70210776	A	T	18	72543541	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.91778068227493	.
18	70210777	A	C	18	72543542	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.0147144571451924	.
18	70210777	A	G	18	72543542	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	2.88784106539025E-4	.
18	70210777	A	T	18	72543542	y	y	intronic	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.0926210894121273	.
18	70211204	C	A	18	72543969	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	4.87808676328718E-5	0.026
18	70211204	C	G	18	72543969	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.77457243820827E-5	0.0
18	70211204	C	T	18	72543969	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.3092164664071E-5	0.006
18	70211205	T	A	18	72543970	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.17265819154456E-4	0.068
18	70211205	T	C	18	72543970	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.66909432932495E-4	0.028
18	70211205	T	G	18	72543970	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	1.66909432932495E-4	0.04
18	70211206	G	A	18	72543971	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.01675456292884E-5	0.006
18	70211206	G	C	18	72543971	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	2.53460870112846E-4	0.138
18	70211206	G	T	18	72543971	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.18545543979898E-4	0.226
18	70211207	C	A	18	72543972	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999961570357669	0.942
18	70211207	C	G	18	72543972	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999970303012401	0.968
18	70211207	C	T	18	72543972	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.999912897699634	0.954
18	70211208	T	A	18	72543973	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.998880350502265	0.812
18	70211208	T	C	18	72543973	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.995237344321462	0.796
18	70211208	T	G	18	72543973	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.994582962829404	0.678
18	70211209	C	A	18	72543974	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.998494483600537	0.752
18	70211209	C	G	18	72543974	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	0.991463968167663	0.748
18	70211209	C	T	18	72543974	y	y	intronic	CBLN2	.	.	intronic	ENSG00000141668	.	.	3.9185871836798E-4	0.024
18	70211210	A	C	18	72543975	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999994413342239	0.762
18	70211210	A	G	18	72543975	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.9999892071274	0.776
18	70211210	A	T	18	72543975	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999994413342239	0.762
18	70211211	C	A	18	72543976	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999941977319723	0.772
18	70211211	C	G	18	72543976	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999941977319723	0.764
18	70211211	C	T	18	72543976	y	y	splicing	CBLN2	.	.	splicing	ENSG00000141668	.	.	0.999941977319723	0.774
18	70211212	C	A	18	72543977	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.993147016771411	0.872
18	70211212	C	G	18	72543977	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.998423919150462	0.836
18	70211212	C	T	18	72543977	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	0.998618295963788	0.9
18	70211213	C	A	18	72543978	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	1.96415362520914E-4	0.004
18	70211213	C	G	18	72543978	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	1.40902652297968E-4	0.006
18	70211213	C	T	18	72543978	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	5.68058803750999E-4	0.132
18	70211214	A	C	18	72543979	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	2.38823249869969E-4	0.064
18	70211214	A	G	18	72543979	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	2.30056397571305E-5	0.0
18	70211214	A	T	18	72543979	y	y	UTR5	CBLN2	.	.	UTR5	ENSG00000141668	.	.	3.2476524642255E-5	0.008
18	70410004	A	C	18	72742769	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.95241758590049E-5	0.002
18	70410004	A	G	18	72742769	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.95241758590049E-5	0.002
18	70410004	A	T	18	72742769	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	3.01578748569253E-5	0.004
18	70410005	T	A	18	72742770	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.06407420733308E-4	0.002
18	70410005	T	C	18	72742770	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.06407420733308E-4	0.002
18	70410005	T	G	18	72742770	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.06407420733308E-4	0.002
18	70410006	C	A	18	72742771	y	y	splicing	NETO1(NM_001201465:exon12:c.1617-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon12:c.1617-1G>T)	.	.	1.8057869992506E-5	0.004
18	70410006	C	G	18	72742771	y	y	splicing	NETO1(NM_001201465:exon12:c.1617-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon12:c.1617-1G>C)	.	.	1.8057869992506E-5	0.004
18	70410006	C	T	18	72742771	y	y	splicing	NETO1(NM_001201465:exon12:c.1617-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon12:c.1617-1G>A)	.	.	1.8057869992506E-5	0.004
18	70410007	T	A	18	72742772	y	y	splicing	NETO1(NM_001201465:exon12:c.1617-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon12:c.1617-2A>T)	.	.	4.11713759611921E-5	0.0
18	70410007	T	C	18	72742772	y	y	splicing	NETO1(NM_001201465:exon12:c.1617-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon12:c.1617-2A>G)	.	.	5.50552619103442E-5	0.008
18	70410007	T	G	18	72742772	y	y	splicing	NETO1(NM_001201465:exon12:c.1617-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon12:c.1617-2A>C)	.	.	5.50552619103442E-5	0.008
18	70410008	G	A	18	72742773	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.08523521497565E-5	0.0
18	70410008	G	C	18	72742773	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.14237653763673E-5	0.0
18	70410008	G	T	18	72742773	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.08523521497565E-5	0.002
18	70410009	T	A	18	72742774	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.89925739660516E-5	0.006
18	70410009	T	C	18	72742774	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.72863585454216E-5	0.008
18	70410009	T	G	18	72742774	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.89925739660516E-5	0.008
18	70410010	A	C	18	72742775	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.79361714119416E-4	0.002
18	70410010	A	G	18	72742775	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.79361714119416E-4	0.002
18	70410010	A	T	18	72742775	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.79361714119416E-4	0.002
18	70410011	C	A	18	72742776	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.270921211638E-5	0.026
18	70410011	C	G	18	72742776	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.270921211638E-5	0.008
18	70410011	C	T	18	72742776	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.68952365742707E-5	0.006
18	70410012	A	C	18	72742777	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.21415737811371E-5	0.008
18	70410012	A	G	18	72742777	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.21415737811371E-5	0.008
18	70410012	A	T	18	72742777	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.40359436175598E-5	0.0
18	70410013	A	C	18	72742778	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.31929338280547E-5	0.0
18	70410013	A	G	18	72742778	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.31929338280547E-5	0.0
18	70410013	A	T	18	72742778	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.89925739660516E-5	0.004
18	70410014	T	A	18	72742779	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.65778582306901E-5	0.0
18	70410014	T	C	18	72742779	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.35697579118787E-5	0.0
18	70410014	T	G	18	72742779	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.35697579118787E-5	0.0
18	70410015	A	C	18	72742780	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.78864525412067E-5	0.0
18	70410015	A	G	18	72742780	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.78864525412067E-5	0.0
18	70410015	A	T	18	72742780	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.78864525412067E-5	0.0
18	70410016	A	C	18	72742781	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.11713759611921E-5	0.0
18	70410016	A	G	18	72742781	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.11713759611921E-5	0.0
18	70410016	A	T	18	72742781	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.11713759611921E-5	0.004
18	70410017	A	C	18	72742782	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.01209109375653E-5	0.002
18	70410017	A	G	18	72742782	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.01209109375653E-5	0.002
18	70410017	A	T	18	72742782	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.01209109375653E-5	0.002
18	70414979	G	A	18	72747744	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.0612717078759064	0.142
18	70414979	G	C	18	72747744	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.0457496815389775	0.09
18	70414979	G	T	18	72747744	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.0612717078759064	0.096
18	70414980	T	A	18	72747745	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.271065706950552	0.474
18	70414980	T	C	18	72747745	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.167746804231311	0.404
18	70414980	T	G	18	72747745	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.167746804231311	0.382
18	70414981	C	A	18	72747746	n	y	UTR3	NETO1	.	.	splicing	ENSG00000166342(ENST00000582281:exon3:c.26-1G>T)	.	.	0.884733698979326	0.636
18	70414981	C	G	18	72747746	n	y	UTR3	NETO1	.	.	splicing	ENSG00000166342(ENST00000582281:exon3:c.26-1G>C)	.	.	0.791726996073182	0.616
18	70414981	C	T	18	72747746	n	y	UTR3	NETO1	.	.	splicing	ENSG00000166342(ENST00000582281:exon3:c.26-1G>A)	.	.	0.897183814914005	0.696
18	70414982	T	A	18	72747747	n	y	UTR3	NETO1	.	.	splicing	ENSG00000166342(ENST00000582281:exon3:c.26-2A>T)	.	.	0.00650039435158757	0.064
18	70414982	T	C	18	72747747	n	y	UTR3	NETO1	.	.	splicing	ENSG00000166342(ENST00000582281:exon3:c.26-2A>G)	.	.	0.00386570099128344	0.08
18	70414982	T	G	18	72747747	n	y	UTR3	NETO1	.	.	splicing	ENSG00000166342(ENST00000582281:exon3:c.26-2A>C)	.	.	0.00386570099128344	0.086
18	70414983	A	C	18	72747748	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00850229560848459	0.028
18	70414983	A	G	18	72747748	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00850229560848459	0.028
18	70414983	A	T	18	72747748	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.0125991389492199	0.028
18	70414984	T	A	18	72747749	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.03510451072954E-4	0.0
18	70414984	T	C	18	72747749	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.51355887585099E-4	0.002
18	70414984	T	G	18	72747749	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.51355887585099E-4	0.002
18	70414985	A	C	18	72747750	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	3.3410990456425E-4	0.02
18	70414985	A	G	18	72747750	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.81964096271328E-4	0.012
18	70414985	A	T	18	72747750	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	1.79493847172168E-4	0.004
18	70414986	T	A	18	72747751	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00220855911415929	0.002
18	70414986	T	C	18	72747751	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00223172515695393	0.002
18	70414986	T	G	18	72747751	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00223172515695393	0.002
18	70414987	A	C	18	72747752	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00223172515695393	0.016
18	70414987	A	G	18	72747752	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00223172515695393	0.016
18	70414987	A	T	18	72747752	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00220855911415929	0.002
18	70414988	A	C	18	72747753	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00278424957825301	0.01
18	70414988	A	G	18	72747753	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00278424957825301	0.008
18	70414988	A	T	18	72747753	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00218780663269419	0.0
18	70414989	T	A	18	72747754	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.929924154901218	0.786
18	70414989	T	C	18	72747754	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.929924154901218	0.774
18	70414989	T	G	18	72747754	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.929924154901218	0.774
18	70414990	G	A	18	72747755	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.432783678351741	0.534
18	70414990	G	C	18	72747755	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.432783678351741	0.532
18	70414990	G	T	18	72747755	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.432783678351741	0.534
18	70414991	A	C	18	72747756	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.0457226638429855	0.25
18	70414991	A	G	18	72747756	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.0457226638429855	0.248
18	70414991	A	T	18	72747756	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.0457226638429855	0.252
18	70414992	A	C	18	72747757	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.929924154901218	0.774
18	70414992	A	G	18	72747757	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.929924154901218	0.774
18	70414992	A	T	18	72747757	n	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.929924154901218	0.786
18	70415398	C	A	18	72748163	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	3.68926243490321E-4	0.03
18	70415398	C	G	18	72748163	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	4.63918767886271E-4	0.012
18	70415398	C	T	18	72748163	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	2.76130315840118E-4	0.02
18	70415399	T	A	18	72748164	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.0587090597474862	0.168
18	70415399	T	C	18	72748164	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00138981481726037	0.016
18	70415399	T	G	18	72748164	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.026542324125525	0.146
18	70415400	C	A	18	72748165	y	y	splicing	NETO1(NM_138966:exon12:c.1617-1G>T)	.	.	splicing	ENSG00000166342(ENST00000327305:exon12:c.1617-1G>T;ENST00000299430:exon12:c.1614-1G>T)	.	.	0.999949496871441	0.932
18	70415400	C	G	18	72748165	y	y	splicing	NETO1(NM_138966:exon12:c.1617-1G>C)	.	.	splicing	ENSG00000166342(ENST00000327305:exon12:c.1617-1G>C;ENST00000299430:exon12:c.1614-1G>C)	.	.	0.999949496871441	0.942
18	70415400	C	T	18	72748165	y	y	splicing	NETO1(NM_138966:exon12:c.1617-1G>A)	.	.	splicing	ENSG00000166342(ENST00000327305:exon12:c.1617-1G>A;ENST00000299430:exon12:c.1614-1G>A)	.	.	0.999949496871441	0.924
18	70415401	T	A	18	72748166	y	y	splicing	NETO1(NM_138966:exon12:c.1617-2A>T)	.	.	splicing	ENSG00000166342(ENST00000327305:exon12:c.1617-2A>T;ENST00000299430:exon12:c.1614-2A>T)	.	.	0.999988247793601	0.928
18	70415401	T	C	18	72748166	y	y	splicing	NETO1(NM_138966:exon12:c.1617-2A>G)	.	.	splicing	ENSG00000166342(ENST00000327305:exon12:c.1617-2A>G;ENST00000299430:exon12:c.1614-2A>G)	.	.	0.999978952611685	0.93
18	70415401	T	G	18	72748166	y	y	splicing	NETO1(NM_138966:exon12:c.1617-2A>C)	.	.	splicing	ENSG00000166342(ENST00000327305:exon12:c.1617-2A>C;ENST00000299430:exon12:c.1614-2A>C)	.	.	0.999978952611685	0.93
18	70415402	G	A	18	72748167	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0994661275254973	0.158
18	70415402	G	C	18	72748167	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999863584884423	0.942
18	70415402	G	T	18	72748167	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996674359959636	0.798
18	70415403	A	C	18	72748168	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0166591622603462	0.05
18	70415403	A	G	18	72748168	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.015456684859076	0.084
18	70415403	A	T	18	72748168	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0245096984892289	0.102
18	70415404	A	C	18	72748169	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.683315059773096	0.494
18	70415404	A	G	18	72748169	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.044300319514356	0.224
18	70415404	A	T	18	72748169	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.555784476172744	0.464
18	70415405	A	C	18	72748170	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.598603643520103	0.408
18	70415405	A	G	18	72748170	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00397707116467627	0.112
18	70415405	A	T	18	72748170	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.362126086018582	0.4
18	70415406	A	C	18	72748171	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999735433623443	0.962
18	70415406	A	G	18	72748171	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.12677810189127E-4	0.0
18	70415406	A	T	18	72748171	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0312516626988548	0.208
18	70415407	T	A	18	72748172	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0075816159319133	0.028
18	70415407	T	C	18	72748172	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0131975153781287	0.024
18	70415407	T	G	18	72748172	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00739288450213714	0.024
18	70415408	A	C	18	72748173	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0882893768802703	0.258
18	70415408	A	G	18	72748173	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00684052917043914	0.206
18	70415408	A	T	18	72748173	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.132672457230423	0.252
18	70415409	A	C	18	72748174	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.926310875196731	0.66
18	70415409	A	G	18	72748174	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.480323046939284	0.606
18	70415409	A	T	18	72748174	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.982161727793719	0.61
18	70415410	A	C	18	72748175	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.94713974480494	0.66
18	70415410	A	G	18	72748175	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.481048858261356	0.62
18	70415410	A	T	18	72748175	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.961904062987626	0.724
18	70415411	A	C	18	72748176	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.78768000323835E-4	0.158
18	70415411	A	G	18	72748176	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.35547217415665E-5	0.08
18	70415411	A	T	18	72748176	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.35375317416794E-4	0.174
18	70416241	C	A	18	72749006	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.55497844378835E-4	0.026
18	70416241	C	G	18	72749006	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.58056463206887E-4	0.03
18	70416241	C	T	18	72749006	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.36318271022369E-4	0.036
18	70416242	T	A	18	72749007	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.68579012212287E-5	0.028
18	70416242	T	C	18	72749007	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.17475544332205E-5	0.0
18	70416242	T	G	18	72749007	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.18429645671592E-5	0.0
18	70416243	G	A	18	72749008	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.46157782118524E-4	0.002
18	70416243	G	C	18	72749008	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00116711171456614	0.042
18	70416243	G	T	18	72749008	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.78727037125853E-4	0.05
18	70416244	C	A	18	72749009	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.988828500363532	0.702
18	70416244	C	G	18	72749009	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.901555910450193	0.702
18	70416244	C	T	18	72749009	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.947081340010969	0.636
18	70416245	T	A	18	72749010	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.963686837981584	0.692
18	70416245	T	C	18	72749010	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.918154787337304	0.586
18	70416245	T	G	18	72749010	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.915986861264732	0.618
18	70416246	T	A	18	72749011	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.992305685524037	0.868
18	70416246	T	C	18	72749011	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.251693908365431	0.276
18	70416246	T	G	18	72749011	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.989787691827175	0.798
18	70416247	A	C	18	72749012	y	y	splicing	NETO1(NM_001201465:exon11:c.1616+2T>G;NM_138966:exon11:c.1616+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1616+2T>G;ENST00000582281:exon2:c.25+2T>G;ENST00000327305:exon11:c.1616+2T>G;ENST00000299430:exon11:c.1613+2T>G)	.	.	0.999988247793601	0.926
18	70416247	A	G	18	72749012	y	y	splicing	NETO1(NM_001201465:exon11:c.1616+2T>C;NM_138966:exon11:c.1616+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1616+2T>C;ENST00000582281:exon2:c.25+2T>C;ENST00000327305:exon11:c.1616+2T>C;ENST00000299430:exon11:c.1613+2T>C)	.	.	0.991245725732999	0.64
18	70416247	A	T	18	72749012	y	y	splicing	NETO1(NM_001201465:exon11:c.1616+2T>A;NM_138966:exon11:c.1616+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1616+2T>A;ENST00000582281:exon2:c.25+2T>A;ENST00000327305:exon11:c.1616+2T>A;ENST00000299430:exon11:c.1613+2T>A)	.	.	0.999988247793601	0.926
18	70416248	C	A	18	72749013	y	y	splicing	NETO1(NM_001201465:exon11:c.1616+1G>T;NM_138966:exon11:c.1616+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1616+1G>T;ENST00000582281:exon2:c.25+1G>T;ENST00000327305:exon11:c.1616+1G>T;ENST00000299430:exon11:c.1613+1G>T)	.	.	0.999986675681007	0.932
18	70416248	C	G	18	72749013	y	y	splicing	NETO1(NM_001201465:exon11:c.1616+1G>C;NM_138966:exon11:c.1616+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1616+1G>C;ENST00000582281:exon2:c.25+1G>C;ENST00000327305:exon11:c.1616+1G>C;ENST00000299430:exon11:c.1613+1G>C)	.	.	0.999986675681007	0.932
18	70416248	C	T	18	72749013	y	y	splicing	NETO1(NM_001201465:exon11:c.1616+1G>A;NM_138966:exon11:c.1616+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1616+1G>A;ENST00000582281:exon2:c.25+1G>A;ENST00000327305:exon11:c.1616+1G>A;ENST00000299430:exon11:c.1613+1G>A)	.	.	0.999986675681007	0.926
18	70416249	C	A	18	72749014	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.997301880778873	0.972
18	70416249	C	G	18	72749014	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.997807073836043	0.852
18	70416249	C	T	18	72749014	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.997535355285308	0.846
18	70416250	T	A	18	72749015	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.977299852565022	0.63
18	70416250	T	C	18	72749015	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.908620757637352	0.702
18	70416250	T	G	18	72749015	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.887445057805084	0.748
18	70416251	T	A	18	72749016	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.030063437744216	0.194
18	70416251	T	C	18	72749016	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	0.00116610113070712	0.006
18	70416251	T	G	18	72749016	y	y	UTR3	NETO1	.	.	UTR3	ENSG00000166342	.	.	6.80566620865212E-4	0.006
18	70416322	A	C	18	72749087	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon10:c.T1543G:p.F515V;NETO1:NM_001201465:exon10:c.T1543G:p.F515V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon10:c.T1540G:p.F514V;ENSG00000166342:ENST00000583169:exon10:c.T1543G:p.F515V;ENSG00000166342:ENST00000327305:exon10:c.T1543G:p.F515V;	0.369478308365126	0.372
18	70416322	A	G	18	72749087	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon10:c.T1543C:p.F515L;NETO1:NM_001201465:exon10:c.T1543C:p.F515L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon10:c.T1540C:p.F514L;ENSG00000166342:ENST00000583169:exon10:c.T1543C:p.F515L;ENSG00000166342:ENST00000327305:exon10:c.T1543C:p.F515L;	0.592113104631304	0.486
18	70416322	A	T	18	72749087	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon10:c.T1543A:p.F515I;NETO1:NM_001201465:exon10:c.T1543A:p.F515I;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon10:c.T1540A:p.F514I;ENSG00000166342:ENST00000583169:exon10:c.T1543A:p.F515I;ENSG00000166342:ENST00000327305:exon10:c.T1543A:p.F515I;	0.298834872875747	0.416
18	70416323	C	A	18	72749088	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon10:c.G1542T:p.R514R;NETO1:NM_001201465:exon10:c.G1542T:p.R514R;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon10:c.G1539T:p.R513R;ENSG00000166342:ENST00000583169:exon10:c.G1542T:p.R514R;ENSG00000166342:ENST00000327305:exon10:c.G1542T:p.R514R;	0.99677995695472	0.754
18	70416323	C	G	18	72749088	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon10:c.G1542C:p.R514R;NETO1:NM_001201465:exon10:c.G1542C:p.R514R;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon10:c.G1539C:p.R513R;ENSG00000166342:ENST00000583169:exon10:c.G1542C:p.R514R;ENSG00000166342:ENST00000327305:exon10:c.G1542C:p.R514R;	0.992708354410218	0.588
18	70416323	C	T	18	72749088	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon10:c.G1542A:p.R514R;NETO1:NM_001201465:exon10:c.G1542A:p.R514R;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon10:c.G1539A:p.R513R;ENSG00000166342:ENST00000583169:exon10:c.G1542A:p.R514R;ENSG00000166342:ENST00000327305:exon10:c.G1542A:p.R514R;	0.987362615835079	0.602
18	70416324	C	A	18	72749089	y	y	splicing	NETO1(NM_001201465:exon11:c.1542-1G>T;NM_138966:exon11:c.1542-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1542-1G>T;ENST00000327305:exon11:c.1542-1G>T;ENST00000299430:exon11:c.1539-1G>T)	.	.	0.999985605487397	0.886
18	70416324	C	G	18	72749089	y	y	splicing	NETO1(NM_001201465:exon11:c.1542-1G>C;NM_138966:exon11:c.1542-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1542-1G>C;ENST00000327305:exon11:c.1542-1G>C;ENST00000299430:exon11:c.1539-1G>C)	.	.	0.999985605487397	0.884
18	70416324	C	T	18	72749089	y	y	splicing	NETO1(NM_001201465:exon11:c.1542-1G>A;NM_138966:exon11:c.1542-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1542-1G>A;ENST00000327305:exon11:c.1542-1G>A;ENST00000299430:exon11:c.1539-1G>A)	.	.	0.999985605487397	0.888
18	70416325	T	A	18	72749090	y	y	splicing	NETO1(NM_001201465:exon11:c.1542-2A>T;NM_138966:exon11:c.1542-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1542-2A>T;ENST00000327305:exon11:c.1542-2A>T;ENST00000299430:exon11:c.1539-2A>T)	.	.	0.999952590261929	0.89
18	70416325	T	C	18	72749090	y	y	splicing	NETO1(NM_001201465:exon11:c.1542-2A>G;NM_138966:exon11:c.1542-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1542-2A>G;ENST00000327305:exon11:c.1542-2A>G;ENST00000299430:exon11:c.1539-2A>G)	.	.	0.999905850918486	0.88
18	70416325	T	G	18	72749090	y	y	splicing	NETO1(NM_001201465:exon11:c.1542-2A>C;NM_138966:exon11:c.1542-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon11:c.1542-2A>C;ENST00000327305:exon11:c.1542-2A>C;ENST00000299430:exon11:c.1539-2A>C)	.	.	0.999926799606793	0.884
18	70416326	G	A	18	72749091	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0643488125542444	0.322
18	70416326	G	C	18	72749091	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998510214460075	0.888
18	70416326	G	T	18	72749091	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999066403342668	0.89
18	70416327	G	A	18	72749092	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00320570727725823	0.164
18	70416327	G	C	18	72749092	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00401955079764695	0.152
18	70416327	G	T	18	72749092	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0030593153225665	0.106
18	70416328	A	C	18	72749093	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.995082855269389	0.844
18	70416328	A	G	18	72749093	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.274752804751839	0.318
18	70416328	A	T	18	72749093	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.997643961433066	0.844
18	70416329	A	C	18	72749094	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999420303165503	0.934
18	70416329	A	G	18	72749094	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0583170002435857	0.21
18	70416329	A	T	18	72749094	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.991224555940101	0.752
18	70416330	T	A	18	72749095	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00182117768712137	0.028
18	70416330	T	C	18	72749095	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0111168209537401	0.09
18	70416330	T	G	18	72749095	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00182117768712137	0.04
18	70416331	G	A	18	72749096	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00172967374489228	0.12
18	70416331	G	C	18	72749096	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999753950698569	0.936
18	70416331	G	T	18	72749096	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.372274053735628	0.44
18	70416332	T	A	18	72749097	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.647051631538428	0.628
18	70416332	T	C	18	72749097	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999811104157441	0.928
18	70416332	T	G	18	72749097	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.663100978688462	0.668
18	70416333	T	A	18	72749098	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.647051631538428	0.63
18	70416333	T	C	18	72749098	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.891941515413113	0.67
18	70416333	T	G	18	72749098	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.647051631538428	0.67
18	70416334	A	C	18	72749099	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999894454852053	0.95
18	70416334	A	G	18	72749099	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996113798972149	0.796
18	70416334	A	T	18	72749099	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999250730151529	0.928
18	70416335	T	A	18	72749100	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.04360279668179E-5	0.238
18	70416335	T	C	18	72749100	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.33040435304246E-5	0.068
18	70416335	T	G	18	72749100	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.97383836407454E-5	0.194
18	70417289	A	C	18	72750054	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00402412419053924	0.086
18	70417289	A	G	18	72750054	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00353202141046649	0.002
18	70417289	A	T	18	72750054	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00783340751001743	0.028
18	70417290	T	A	18	72750055	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.887592177076799	0.44
18	70417290	T	C	18	72750055	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.747846750931167	0.292
18	70417290	T	G	18	72750055	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.2961528695873	0.314
18	70417291	A	C	18	72750056	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996930869702508	0.818
18	70417291	A	G	18	72750056	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.997250652677135	0.852
18	70417291	A	T	18	72750056	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999061332372689	0.768
18	70417292	C	A	18	72750057	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999972800830724	0.934
18	70417292	C	G	18	72750057	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999930460458742	0.976
18	70417292	C	T	18	72750057	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999930460458742	0.986
18	70417293	T	A	18	72750058	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.99962302706155	0.838
18	70417293	T	C	18	72750058	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998552534634479	0.868
18	70417293	T	G	18	72750058	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998915108183679	0.89
18	70417294	G	A	18	72750059	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.512829267137605	0.488
18	70417294	G	C	18	72750059	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.132348766417949	0.152
18	70417294	G	T	18	72750059	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.132348766417949	0.202
18	70417295	A	C	18	72750060	y	y	splicing	NETO1(NM_001201465:exon10:c.1541+2T>G;NM_138966:exon10:c.1541+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.1541+2T>G;ENST00000327305:exon10:c.1541+2T>G;ENST00000299430:exon10:c.1538+2T>G)	.	.	0.999992446697775	0.932
18	70417295	A	G	18	72750060	y	y	splicing	NETO1(NM_001201465:exon10:c.1541+2T>C;NM_138966:exon10:c.1541+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.1541+2T>C;ENST00000327305:exon10:c.1541+2T>C;ENST00000299430:exon10:c.1538+2T>C)	.	.	0.999924967059161	0.892
18	70417295	A	T	18	72750060	y	y	splicing	NETO1(NM_001201465:exon10:c.1541+2T>A;NM_138966:exon10:c.1541+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.1541+2T>A;ENST00000327305:exon10:c.1541+2T>A;ENST00000299430:exon10:c.1538+2T>A)	.	.	0.999992446697775	0.932
18	70417296	C	A	18	72750061	y	y	splicing	NETO1(NM_001201465:exon10:c.1541+1G>T;NM_138966:exon10:c.1541+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.1541+1G>T;ENST00000327305:exon10:c.1541+1G>T;ENST00000299430:exon10:c.1538+1G>T)	.	.	0.999990361384395	0.926
18	70417296	C	G	18	72750061	y	y	splicing	NETO1(NM_001201465:exon10:c.1541+1G>C;NM_138966:exon10:c.1541+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.1541+1G>C;ENST00000327305:exon10:c.1541+1G>C;ENST00000299430:exon10:c.1538+1G>C)	.	.	0.999990361384395	0.926
18	70417296	C	T	18	72750061	y	y	splicing	NETO1(NM_001201465:exon10:c.1541+1G>A;NM_138966:exon10:c.1541+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.1541+1G>A;ENST00000327305:exon10:c.1541+1G>A;ENST00000299430:exon10:c.1538+1G>A)	.	.	0.999990361384395	0.926
18	70417297	C	A	18	72750062	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.G1541T:p.R514L;NETO1:NM_001201465:exon9:c.G1541T:p.R514L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G1538T:p.R513L;ENSG00000166342:ENST00000583169:exon9:c.G1541T:p.R514L;ENSG00000166342:ENST00000327305:exon9:c.G1541T:p.R514L;	0.999992085169995	0.998
18	70417297	C	G	18	72750062	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.G1541C:p.R514P;NETO1:NM_001201465:exon9:c.G1541C:p.R514P;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G1538C:p.R513P;ENSG00000166342:ENST00000583169:exon9:c.G1541C:p.R514P;ENSG00000166342:ENST00000327305:exon9:c.G1541C:p.R514P;	0.999995434522405	0.94
18	70417297	C	T	18	72750062	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.G1541A:p.R514Q;NETO1:NM_001201465:exon9:c.G1541A:p.R514Q;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G1538A:p.R513Q;ENSG00000166342:ENST00000583169:exon9:c.G1541A:p.R514Q;ENSG00000166342:ENST00000327305:exon9:c.G1541A:p.R514Q;	0.999995421068603	1.0
18	70417298	G	A	18	72750063	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.C1540T:p.R514W;NETO1:NM_001201465:exon9:c.C1540T:p.R514W;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.C1537T:p.R513W;ENSG00000166342:ENST00000583169:exon9:c.C1540T:p.R514W;ENSG00000166342:ENST00000327305:exon9:c.C1540T:p.R514W;	0.99172108017661	0.714
18	70417298	G	C	18	72750063	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.C1540G:p.R514G;NETO1:NM_001201465:exon9:c.C1540G:p.R514G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.C1537G:p.R513G;ENSG00000166342:ENST00000583169:exon9:c.C1540G:p.R514G;ENSG00000166342:ENST00000327305:exon9:c.C1540G:p.R514G;	0.972710443778645	0.646
18	70417298	G	T	18	72750063	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon9:c.C1540A:p.R514R;NETO1:NM_001201465:exon9:c.C1540A:p.R514R;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.C1537A:p.R513R;ENSG00000166342:ENST00000583169:exon9:c.C1540A:p.R514R;ENSG00000166342:ENST00000327305:exon9:c.C1540A:p.R514R;	0.277454643795438	0.356
18	70417299	C	A	18	72750064	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.G1539T:p.Q513H;NETO1:NM_001201465:exon9:c.G1539T:p.Q513H;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G1536T:p.Q512H;ENSG00000166342:ENST00000583169:exon9:c.G1539T:p.Q513H;ENSG00000166342:ENST00000327305:exon9:c.G1539T:p.Q513H;	0.975296524593535	0.794
18	70417299	C	G	18	72750064	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.G1539C:p.Q513H;NETO1:NM_001201465:exon9:c.G1539C:p.Q513H;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G1536C:p.Q512H;ENSG00000166342:ENST00000583169:exon9:c.G1539C:p.Q513H;ENSG00000166342:ENST00000327305:exon9:c.G1539C:p.Q513H;	0.912873339630039	0.688
18	70417299	C	T	18	72750064	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon9:c.G1539A:p.Q513Q;NETO1:NM_001201465:exon9:c.G1539A:p.Q513Q;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G1536A:p.Q512Q;ENSG00000166342:ENST00000583169:exon9:c.G1539A:p.Q513Q;ENSG00000166342:ENST00000327305:exon9:c.G1539A:p.Q513Q;	0.00765625443675474	0.122
18	70417854	C	A	18	72750619	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.G984T:p.E328D;NETO1:NM_001201465:exon9:c.G984T:p.E328D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G981T:p.E327D;ENSG00000166342:ENST00000583169:exon9:c.G984T:p.E328D;ENSG00000166342:ENST00000327305:exon9:c.G984T:p.E328D;	1.43008114782042E-5	0.092
18	70417854	C	G	18	72750619	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.G984C:p.E328D;NETO1:NM_001201465:exon9:c.G984C:p.E328D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G981C:p.E327D;ENSG00000166342:ENST00000583169:exon9:c.G984C:p.E328D;ENSG00000166342:ENST00000327305:exon9:c.G984C:p.E328D;	5.06755415016659E-5	0.064
18	70417854	C	T	18	72750619	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon9:c.G984A:p.E328E;NETO1:NM_001201465:exon9:c.G984A:p.E328E;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.G981A:p.E327E;ENSG00000166342:ENST00000583169:exon9:c.G984A:p.E328E;ENSG00000166342:ENST00000327305:exon9:c.G984A:p.E328E;	1.87161455599928E-5	0.0
18	70417855	T	A	18	72750620	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.A983T:p.E328V;NETO1:NM_001201465:exon9:c.A983T:p.E328V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.A980T:p.E327V;ENSG00000166342:ENST00000583169:exon9:c.A983T:p.E328V;ENSG00000166342:ENST00000327305:exon9:c.A983T:p.E328V;	0.645213992993283	0.452
18	70417855	T	C	18	72750620	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.A983G:p.E328G;NETO1:NM_001201465:exon9:c.A983G:p.E328G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.A980G:p.E327G;ENSG00000166342:ENST00000583169:exon9:c.A983G:p.E328G;ENSG00000166342:ENST00000327305:exon9:c.A983G:p.E328G;	0.0281976783696492	0.268
18	70417855	T	G	18	72750620	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon9:c.A983C:p.E328A;NETO1:NM_001201465:exon9:c.A983C:p.E328A;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon9:c.A980C:p.E327A;ENSG00000166342:ENST00000583169:exon9:c.A983C:p.E328A;ENSG00000166342:ENST00000327305:exon9:c.A983C:p.E328A;	0.687207510669226	0.472
18	70417856	C	A	18	72750621	y	y	splicing	NETO1(NM_001201465:exon10:c.983-1G>T;NM_138966:exon10:c.983-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.983-1G>T;ENST00000327305:exon10:c.983-1G>T;ENST00000299430:exon10:c.980-1G>T)	.	.	0.99993872479901	0.932
18	70417856	C	G	18	72750621	y	y	splicing	NETO1(NM_001201465:exon10:c.983-1G>C;NM_138966:exon10:c.983-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.983-1G>C;ENST00000327305:exon10:c.983-1G>C;ENST00000299430:exon10:c.980-1G>C)	.	.	0.99993872479901	0.932
18	70417856	C	T	18	72750621	y	y	splicing	NETO1(NM_001201465:exon10:c.983-1G>A;NM_138966:exon10:c.983-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.983-1G>A;ENST00000327305:exon10:c.983-1G>A;ENST00000299430:exon10:c.980-1G>A)	.	.	0.99993872479901	0.924
18	70417857	T	A	18	72750622	y	y	splicing	NETO1(NM_001201465:exon10:c.983-2A>T;NM_138966:exon10:c.983-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.983-2A>T;ENST00000327305:exon10:c.983-2A>T;ENST00000299430:exon10:c.980-2A>T)	.	.	0.999960980016628	0.954
18	70417857	T	C	18	72750622	y	y	splicing	NETO1(NM_001201465:exon10:c.983-2A>G;NM_138966:exon10:c.983-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.983-2A>G;ENST00000327305:exon10:c.983-2A>G;ENST00000299430:exon10:c.980-2A>G)	.	.	0.999979168129443	0.952
18	70417857	T	G	18	72750622	y	y	splicing	NETO1(NM_001201465:exon10:c.983-2A>C;NM_138966:exon10:c.983-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon10:c.983-2A>C;ENST00000327305:exon10:c.983-2A>C;ENST00000299430:exon10:c.980-2A>C)	.	.	0.999979168129443	0.952
18	70417858	A	C	18	72750623	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.483849342711995	0.576
18	70417858	A	G	18	72750623	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.72229538433831E-5	0.008
18	70417858	A	T	18	72750623	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.002831097893669	0.24
18	70417859	T	A	18	72750624	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.19511532158842E-5	0.004
18	70417859	T	C	18	72750624	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.03906742967845E-4	0.072
18	70417859	T	G	18	72750624	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.01956913353601E-4	0.112
18	70417860	A	C	18	72750625	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.142541848099005	0.294
18	70417860	A	G	18	72750625	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.48788935921412E-4	0.098
18	70417860	A	T	18	72750625	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0254999789832782	0.308
18	70417861	G	A	18	72750626	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.39484346181821E-6	0.016
18	70417861	G	C	18	72750626	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0342824378715576	0.368
18	70417861	G	T	18	72750626	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00683299126553787	0.316
18	70417862	G	A	18	72750627	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.70286766694993E-5	0.01
18	70417862	G	C	18	72750627	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999918651865542	0.764
18	70417862	G	T	18	72750627	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00348994172299809	0.26
18	70417863	T	A	18	72750628	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.90811620020825E-5	0.01
18	70417863	T	C	18	72750628	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.997946678584482	0.862
18	70417863	T	G	18	72750628	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.84044725606337E-5	0.018
18	70417864	T	A	18	72750629	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.32186368474212E-5	0.002
18	70417864	T	C	18	72750629	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.35733806956552E-5	0.038
18	70417864	T	G	18	72750629	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.810179806791E-5	0.024
18	70417865	G	A	18	72750630	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.04678724020776E-4	0.0
18	70417865	G	C	18	72750630	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00409300311581876	0.052
18	70417865	G	T	18	72750630	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.62330715265449E-4	0.06
18	70417866	G	A	18	72750631	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.51715955169506E-5	0.0
18	70417866	G	C	18	72750631	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00159628758217841	0.032
18	70417866	G	T	18	72750631	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00556019315596681	0.062
18	70417867	A	C	18	72750632	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.823588598345039	0.68
18	70417867	A	G	18	72750632	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.22556034454328E-4	0.116
18	70417867	A	T	18	72750632	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.505638101585578	0.622
18	70423261	A	C	18	72756026	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.19756607859203E-4	0.006
18	70423261	A	G	18	72756026	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.76017572445493E-4	0.004
18	70423261	A	T	18	72756026	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.57491786523094E-4	0.032
18	70423262	T	A	18	72756027	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00232036419186587	0.178
18	70423262	T	C	18	72756027	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.0769244897353E-4	0.114
18	70423262	T	G	18	72756027	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.37931067318726E-4	0.004
18	70423263	C	A	18	72756028	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.65436793095398E-5	0.004
18	70423263	C	G	18	72756028	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00324755101498272	0.146
18	70423263	C	T	18	72756028	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.56867352067899E-4	0.022
18	70423264	A	C	18	72756029	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.11605762926574E-4	0.034
18	70423264	A	G	18	72756029	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.64117530654525E-4	0.016
18	70423264	A	T	18	72756029	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.07363795176939E-4	0.008
18	70423265	T	A	18	72756030	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.997088881426112	0.87
18	70423265	T	C	18	72756030	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996142722492515	0.944
18	70423265	T	G	18	72756030	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.983909266174567	0.824
18	70423266	T	A	18	72756031	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999946166830722	0.98
18	70423266	T	C	18	72756031	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999183230611949	0.96
18	70423266	T	G	18	72756031	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999950198623349	0.968
18	70423267	A	C	18	72756032	y	y	splicing	NETO1(NM_001201465:exon9:c.982+2T>G;NM_138966:exon9:c.982+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.982+2T>G;ENST00000327305:exon9:c.982+2T>G;ENST00000299430:exon9:c.979+2T>G)	.	.	0.999988247793601	0.928
18	70423267	A	G	18	72756032	y	y	splicing	NETO1(NM_001201465:exon9:c.982+2T>C;NM_138966:exon9:c.982+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.982+2T>C;ENST00000327305:exon9:c.982+2T>C;ENST00000299430:exon9:c.979+2T>C)	.	.	0.99340600729494	0.666
18	70423267	A	T	18	72756032	y	y	splicing	NETO1(NM_001201465:exon9:c.982+2T>A;NM_138966:exon9:c.982+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.982+2T>A;ENST00000327305:exon9:c.982+2T>A;ENST00000299430:exon9:c.979+2T>A)	.	.	0.999988247793601	0.928
18	70423268	C	A	18	72756033	y	y	splicing	NETO1(NM_001201465:exon9:c.982+1G>T;NM_138966:exon9:c.982+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.982+1G>T;ENST00000327305:exon9:c.982+1G>T;ENST00000299430:exon9:c.979+1G>T)	.	.	0.999990361384395	0.938
18	70423268	C	G	18	72756033	y	y	splicing	NETO1(NM_001201465:exon9:c.982+1G>C;NM_138966:exon9:c.982+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.982+1G>C;ENST00000327305:exon9:c.982+1G>C;ENST00000299430:exon9:c.979+1G>C)	.	.	0.999990361384395	0.938
18	70423268	C	T	18	72756033	y	y	splicing	NETO1(NM_001201465:exon9:c.982+1G>A;NM_138966:exon9:c.982+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.982+1G>A;ENST00000327305:exon9:c.982+1G>A;ENST00000299430:exon9:c.979+1G>A)	.	.	0.999990361384395	0.938
18	70423269	C	A	18	72756034	y	y	exonic	NETO1	stopgain SNV	NETO1:NM_138966:exon8:c.G982T:p.E328X;NETO1:NM_001201465:exon8:c.G982T:p.E328X;	exonic	ENSG00000166342	stopgain SNV	ENSG00000166342:ENST00000299430:exon8:c.G979T:p.E327X;ENSG00000166342:ENST00000583169:exon8:c.G982T:p.E328X;ENSG00000166342:ENST00000327305:exon8:c.G982T:p.E328X;	0.999989815109463	0.978
18	70423269	C	G	18	72756034	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.G982C:p.E328Q;NETO1:NM_001201465:exon8:c.G982C:p.E328Q;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.G979C:p.E327Q;ENSG00000166342:ENST00000583169:exon8:c.G982C:p.E328Q;ENSG00000166342:ENST00000327305:exon8:c.G982C:p.E328Q;	0.999997467131986	0.998
18	70423269	C	T	18	72756034	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.G982A:p.E328K;NETO1:NM_001201465:exon8:c.G982A:p.E328K;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.G979A:p.E327K;ENSG00000166342:ENST00000583169:exon8:c.G982A:p.E328K;ENSG00000166342:ENST00000327305:exon8:c.G982A:p.E328K;	0.999994222381975	1.0
18	70423270	T	A	18	72756035	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.A981T:p.K327N;NETO1:NM_001201465:exon8:c.A981T:p.K327N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.A978T:p.K326N;ENSG00000166342:ENST00000583169:exon8:c.A981T:p.K327N;ENSG00000166342:ENST00000327305:exon8:c.A981T:p.K327N;	0.999866653058441	0.996
18	70423270	T	C	18	72756035	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon8:c.A981G:p.K327K;NETO1:NM_001201465:exon8:c.A981G:p.K327K;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.A978G:p.K326K;ENSG00000166342:ENST00000583169:exon8:c.A981G:p.K327K;ENSG00000166342:ENST00000327305:exon8:c.A981G:p.K327K;	0.999107676155499	0.99
18	70423270	T	G	18	72756035	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.A981C:p.K327N;NETO1:NM_001201465:exon8:c.A981C:p.K327N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.A978C:p.K326N;ENSG00000166342:ENST00000583169:exon8:c.A981C:p.K327N;ENSG00000166342:ENST00000327305:exon8:c.A981C:p.K327N;	0.998500641879589	0.968
18	70423271	T	A	18	72756036	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.A980T:p.K327I;NETO1:NM_001201465:exon8:c.A980T:p.K327I;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.A977T:p.K326I;ENSG00000166342:ENST00000583169:exon8:c.A980T:p.K327I;ENSG00000166342:ENST00000327305:exon8:c.A980T:p.K327I;	0.996196531436926	0.752
18	70423271	T	C	18	72756036	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.A980G:p.K327R;NETO1:NM_001201465:exon8:c.A980G:p.K327R;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.A977G:p.K326R;ENSG00000166342:ENST00000583169:exon8:c.A980G:p.K327R;ENSG00000166342:ENST00000327305:exon8:c.A980G:p.K327R;	0.513809209511945	0.418
18	70423271	T	G	18	72756036	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.A980C:p.K327T;NETO1:NM_001201465:exon8:c.A980C:p.K327T;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.A977C:p.K326T;ENSG00000166342:ENST00000583169:exon8:c.A980C:p.K327T;ENSG00000166342:ENST00000327305:exon8:c.A980C:p.K327T;	0.821653520564379	0.798
18	70423381	A	C	18	72756146	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon8:c.T870G:p.P290P;NETO1:NM_001201465:exon8:c.T870G:p.P290P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.T867G:p.P289P;ENSG00000166342:ENST00000583169:exon8:c.T870G:p.P290P;ENSG00000166342:ENST00000327305:exon8:c.T870G:p.P290P;	0.0101867497194649	0.144
18	70423381	A	G	18	72756146	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon8:c.T870C:p.P290P;NETO1:NM_001201465:exon8:c.T870C:p.P290P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.T867C:p.P289P;ENSG00000166342:ENST00000583169:exon8:c.T870C:p.P290P;ENSG00000166342:ENST00000327305:exon8:c.T870C:p.P290P;	0.0119715046461179	0.178
18	70423381	A	T	18	72756146	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon8:c.T870A:p.P290P;NETO1:NM_001201465:exon8:c.T870A:p.P290P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.T867A:p.P289P;ENSG00000166342:ENST00000583169:exon8:c.T870A:p.P290P;ENSG00000166342:ENST00000327305:exon8:c.T870A:p.P290P;	0.0286709341121372	0.188
18	70423382	G	A	18	72756147	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.C869T:p.P290L;NETO1:NM_001201465:exon8:c.C869T:p.P290L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.C866T:p.P289L;ENSG00000166342:ENST00000583169:exon8:c.C869T:p.P290L;ENSG00000166342:ENST00000327305:exon8:c.C869T:p.P290L;	0.987219822180396	0.906
18	70423382	G	C	18	72756147	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.C869G:p.P290R;NETO1:NM_001201465:exon8:c.C869G:p.P290R;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.C866G:p.P289R;ENSG00000166342:ENST00000583169:exon8:c.C869G:p.P290R;ENSG00000166342:ENST00000327305:exon8:c.C869G:p.P290R;	0.962601000731202	0.762
18	70423382	G	T	18	72756147	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon8:c.C869A:p.P290H;NETO1:NM_001201465:exon8:c.C869A:p.P290H;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon8:c.C866A:p.P289H;ENSG00000166342:ENST00000583169:exon8:c.C869A:p.P290H;ENSG00000166342:ENST00000327305:exon8:c.C869A:p.P290H;	0.960510926826162	0.81
18	70423383	C	A	18	72756148	y	y	splicing	NETO1(NM_001201465:exon9:c.869-1G>T;NM_138966:exon9:c.869-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.869-1G>T;ENST00000327305:exon9:c.869-1G>T;ENST00000299430:exon9:c.866-1G>T)	.	.	0.999990361384395	0.938
18	70423383	C	G	18	72756148	y	y	splicing	NETO1(NM_001201465:exon9:c.869-1G>C;NM_138966:exon9:c.869-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.869-1G>C;ENST00000327305:exon9:c.869-1G>C;ENST00000299430:exon9:c.866-1G>C)	.	.	0.999990361384395	0.938
18	70423383	C	T	18	72756148	y	y	splicing	NETO1(NM_001201465:exon9:c.869-1G>A;NM_138966:exon9:c.869-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.869-1G>A;ENST00000327305:exon9:c.869-1G>A;ENST00000299430:exon9:c.866-1G>A)	.	.	0.999990361384395	0.938
18	70423384	T	A	18	72756149	y	y	splicing	NETO1(NM_001201465:exon9:c.869-2A>T;NM_138966:exon9:c.869-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.869-2A>T;ENST00000327305:exon9:c.869-2A>T;ENST00000299430:exon9:c.866-2A>T)	.	.	0.999988247793601	0.93
18	70423384	T	C	18	72756149	y	y	splicing	NETO1(NM_001201465:exon9:c.869-2A>G;NM_138966:exon9:c.869-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.869-2A>G;ENST00000327305:exon9:c.869-2A>G;ENST00000299430:exon9:c.866-2A>G)	.	.	0.999988247793601	0.93
18	70423384	T	G	18	72756149	y	y	splicing	NETO1(NM_001201465:exon9:c.869-2A>C;NM_138966:exon9:c.869-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon9:c.869-2A>C;ENST00000327305:exon9:c.869-2A>C;ENST00000299430:exon9:c.866-2A>C)	.	.	0.999988247793601	0.93
18	70423385	A	C	18	72756150	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.982203686437114	0.658
18	70423385	A	G	18	72756150	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.35164371322186E-5	0.006
18	70423385	A	T	18	72756150	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00457980301157533	0.204
18	70423386	A	C	18	72756151	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.26364807408376E-5	0.006
18	70423386	A	G	18	72756151	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.08982189175497E-5	0.002
18	70423386	A	T	18	72756151	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.52177815767491E-5	0.004
18	70423387	A	C	18	72756152	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0210892528625773	0.458
18	70423387	A	G	18	72756152	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0200508775964886	0.176
18	70423387	A	T	18	72756152	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0241160259746393	0.482
18	70423388	A	C	18	72756153	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.00072108906902E-4	0.066
18	70423388	A	G	18	72756153	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.71678292945859E-5	0.002
18	70423388	A	T	18	72756153	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.58602898694401E-4	0.006
18	70423389	A	C	18	72756154	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.95774236622341E-5	0.036
18	70423389	A	G	18	72756154	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.39649119337395E-5	0.0
18	70423389	A	T	18	72756154	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.21183727615883E-4	0.03
18	70423390	G	A	18	72756155	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.12032862855348E-5	0.024
18	70423390	G	C	18	72756155	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.70021072969223E-5	0.018
18	70423390	G	T	18	72756155	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.69954739498168E-4	0.032
18	70423391	A	C	18	72756156	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.29475252855683E-4	0.04
18	70423391	A	G	18	72756156	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.3126228362802E-5	0.0
18	70423391	A	T	18	72756156	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.43056087116446E-4	0.07
18	70423392	A	C	18	72756157	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.37584189644123E-4	0.17
18	70423392	A	G	18	72756157	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.6378568359518E-4	0.008
18	70423392	A	T	18	72756157	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.41817470171146E-4	0.13
18	70423393	G	A	18	72756158	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	9.17569391535794E-5	0.002
18	70423393	G	C	18	72756158	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.66965314296122E-5	0.008
18	70423393	G	T	18	72756158	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.68374165312726E-4	0.026
18	70423394	A	C	18	72756159	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.06518874647185E-4	0.118
18	70423394	A	G	18	72756159	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.02685428201972E-5	0.022
18	70423394	A	T	18	72756159	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.76410255674745E-4	0.074
18	70450905	A	C	18	72783670	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.101261745456815	0.386
18	70450905	A	G	18	72783670	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.536306070500704	0.606
18	70450905	A	T	18	72783670	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.257011185242098	0.482
18	70450906	A	C	18	72783671	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.7844483234078E-5	0.0
18	70450906	A	G	18	72783671	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.93865994369125E-5	0.0
18	70450906	A	T	18	72783671	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.10922935610543E-5	0.0
18	70450907	T	A	18	72783672	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.14579328835037E-4	0.062
18	70450907	T	C	18	72783672	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.15758103037175E-4	0.036
18	70450907	T	G	18	72783672	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.86890493087659E-4	0.102
18	70450908	C	A	18	72783673	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999984987372077	0.966
18	70450908	C	G	18	72783673	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999973567543635	0.988
18	70450908	C	T	18	72783673	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999989815583847	0.992
18	70450909	T	A	18	72783674	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999729461216918	0.948
18	70450909	T	C	18	72783674	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.99968036428583	0.916
18	70450909	T	G	18	72783674	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999562918207685	0.886
18	70450910	T	A	18	72783675	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.99994110663719	0.976
18	70450910	T	C	18	72783675	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.920298022024205	0.644
18	70450910	T	G	18	72783675	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999725152932028	0.968
18	70450911	A	C	18	72783676	y	y	splicing	NETO1(NM_001201465:exon8:c.868+2T>G;NM_138966:exon8:c.868+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.868+2T>G;ENST00000327305:exon8:c.868+2T>G;ENST00000299430:exon8:c.865+2T>G)	.	.	0.999988247793601	0.924
18	70450911	A	G	18	72783676	y	y	splicing	NETO1(NM_001201465:exon8:c.868+2T>C;NM_138966:exon8:c.868+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.868+2T>C;ENST00000327305:exon8:c.868+2T>C;ENST00000299430:exon8:c.865+2T>C)	.	.	0.99340600729494	0.694
18	70450911	A	T	18	72783676	y	y	splicing	NETO1(NM_001201465:exon8:c.868+2T>A;NM_138966:exon8:c.868+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.868+2T>A;ENST00000327305:exon8:c.868+2T>A;ENST00000299430:exon8:c.865+2T>A)	.	.	0.999988247793601	0.924
18	70450912	C	A	18	72783677	y	y	splicing	NETO1(NM_001201465:exon8:c.868+1G>T;NM_138966:exon8:c.868+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.868+1G>T;ENST00000327305:exon8:c.868+1G>T;ENST00000299430:exon8:c.865+1G>T)	.	.	0.999990361384395	0.932
18	70450912	C	G	18	72783677	y	y	splicing	NETO1(NM_001201465:exon8:c.868+1G>C;NM_138966:exon8:c.868+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.868+1G>C;ENST00000327305:exon8:c.868+1G>C;ENST00000299430:exon8:c.865+1G>C)	.	.	0.999990361384395	0.932
18	70450912	C	T	18	72783677	y	y	splicing	NETO1(NM_001201465:exon8:c.868+1G>A;NM_138966:exon8:c.868+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.868+1G>A;ENST00000327305:exon8:c.868+1G>A;ENST00000299430:exon8:c.865+1G>A)	.	.	0.999990361384395	0.932
18	70450913	G	A	18	72783678	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.C868T:p.P290S;NETO1:NM_001201465:exon7:c.C868T:p.P290S;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.C865T:p.P289S;ENSG00000166342:ENST00000583169:exon7:c.C868T:p.P290S;ENSG00000166342:ENST00000327305:exon7:c.C868T:p.P290S;	0.998317653916263	0.774
18	70450913	G	C	18	72783678	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.C868G:p.P290A;NETO1:NM_001201465:exon7:c.C868G:p.P290A;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.C865G:p.P289A;ENSG00000166342:ENST00000583169:exon7:c.C868G:p.P290A;ENSG00000166342:ENST00000327305:exon7:c.C868G:p.P290A;	0.88230776215591	0.384
18	70450913	G	T	18	72783678	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.C868A:p.P290T;NETO1:NM_001201465:exon7:c.C868A:p.P290T;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.C865A:p.P289T;ENSG00000166342:ENST00000583169:exon7:c.C868A:p.P290T;ENSG00000166342:ENST00000327305:exon7:c.C868A:p.P290T;	0.981131928881049	0.802
18	70450914	T	A	18	72783679	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.A867T:p.E289D;NETO1:NM_001201465:exon7:c.A867T:p.E289D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A864T:p.E288D;ENSG00000166342:ENST00000583169:exon7:c.A867T:p.E289D;ENSG00000166342:ENST00000327305:exon7:c.A867T:p.E289D;	0.870729118318039	0.72
18	70450914	T	C	18	72783679	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon7:c.A867G:p.E289E;NETO1:NM_001201465:exon7:c.A867G:p.E289E;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A864G:p.E288E;ENSG00000166342:ENST00000583169:exon7:c.A867G:p.E289E;ENSG00000166342:ENST00000327305:exon7:c.A867G:p.E289E;	0.99019454154356	0.764
18	70450914	T	G	18	72783679	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.A867C:p.E289D;NETO1:NM_001201465:exon7:c.A867C:p.E289D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A864C:p.E288D;ENSG00000166342:ENST00000583169:exon7:c.A867C:p.E289D;ENSG00000166342:ENST00000327305:exon7:c.A867C:p.E289D;	0.868699400919949	0.714
18	70450915	T	A	18	72783680	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.A866T:p.E289V;NETO1:NM_001201465:exon7:c.A866T:p.E289V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A863T:p.E288V;ENSG00000166342:ENST00000583169:exon7:c.A866T:p.E289V;ENSG00000166342:ENST00000327305:exon7:c.A866T:p.E289V;	0.99705944896232	0.77
18	70450915	T	C	18	72783680	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.A866G:p.E289G;NETO1:NM_001201465:exon7:c.A866G:p.E289G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A863G:p.E288G;ENSG00000166342:ENST00000583169:exon7:c.A866G:p.E289G;ENSG00000166342:ENST00000327305:exon7:c.A866G:p.E289G;	0.685275500559293	0.474
18	70450915	T	G	18	72783680	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.A866C:p.E289A;NETO1:NM_001201465:exon7:c.A866C:p.E289A;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A863C:p.E288A;ENSG00000166342:ENST00000583169:exon7:c.A866C:p.E289A;ENSG00000166342:ENST00000327305:exon7:c.A866C:p.E289A;	0.810107245284113	0.674
18	70451140	A	C	18	72783905	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.T641G:p.I214S;NETO1:NM_001201465:exon7:c.T641G:p.I214S;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.T638G:p.I213S;ENSG00000166342:ENST00000583169:exon7:c.T641G:p.I214S;ENSG00000166342:ENST00000327305:exon7:c.T641G:p.I214S;	0.336724338087694	0.61
18	70451140	A	G	18	72783905	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.T641C:p.I214T;NETO1:NM_001201465:exon7:c.T641C:p.I214T;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.T638C:p.I213T;ENSG00000166342:ENST00000583169:exon7:c.T641C:p.I214T;ENSG00000166342:ENST00000327305:exon7:c.T641C:p.I214T;	0.394013657248426	0.612
18	70451140	A	T	18	72783905	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.T641A:p.I214N;NETO1:NM_001201465:exon7:c.T641A:p.I214N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.T638A:p.I213N;ENSG00000166342:ENST00000583169:exon7:c.T641A:p.I214N;ENSG00000166342:ENST00000327305:exon7:c.T641A:p.I214N;	0.299745287127456	0.594
18	70451141	T	A	18	72783906	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.A640T:p.I214F;NETO1:NM_001201465:exon7:c.A640T:p.I214F;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A637T:p.I213F;ENSG00000166342:ENST00000583169:exon7:c.A640T:p.I214F;ENSG00000166342:ENST00000327305:exon7:c.A640T:p.I214F;	0.472716721315033	0.582
18	70451141	T	C	18	72783906	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.A640G:p.I214V;NETO1:NM_001201465:exon7:c.A640G:p.I214V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A637G:p.I213V;ENSG00000166342:ENST00000583169:exon7:c.A640G:p.I214V;ENSG00000166342:ENST00000327305:exon7:c.A640G:p.I214V;	0.710497955459217	0.736
18	70451141	T	G	18	72783906	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon7:c.A640C:p.I214L;NETO1:NM_001201465:exon7:c.A640C:p.I214L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon7:c.A637C:p.I213L;ENSG00000166342:ENST00000583169:exon7:c.A640C:p.I214L;ENSG00000166342:ENST00000327305:exon7:c.A640C:p.I214L;	0.406056588500929	0.636
18	70451142	C	A	18	72783907	y	y	splicing	NETO1(NM_001201465:exon8:c.640-1G>T;NM_138966:exon8:c.640-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.640-1G>T;ENST00000327305:exon8:c.640-1G>T;ENST00000299430:exon8:c.637-1G>T)	.	.	0.999990361384395	0.936
18	70451142	C	G	18	72783907	y	y	splicing	NETO1(NM_001201465:exon8:c.640-1G>C;NM_138966:exon8:c.640-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.640-1G>C;ENST00000327305:exon8:c.640-1G>C;ENST00000299430:exon8:c.637-1G>C)	.	.	0.999990361384395	0.936
18	70451142	C	T	18	72783907	y	y	splicing	NETO1(NM_001201465:exon8:c.640-1G>A;NM_138966:exon8:c.640-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.640-1G>A;ENST00000327305:exon8:c.640-1G>A;ENST00000299430:exon8:c.637-1G>A)	.	.	0.999990361384395	0.936
18	70451143	T	A	18	72783908	y	y	splicing	NETO1(NM_001201465:exon8:c.640-2A>T;NM_138966:exon8:c.640-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.640-2A>T;ENST00000327305:exon8:c.640-2A>T;ENST00000299430:exon8:c.637-2A>T)	.	.	0.999988247793601	0.93
18	70451143	T	C	18	72783908	y	y	splicing	NETO1(NM_001201465:exon8:c.640-2A>G;NM_138966:exon8:c.640-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.640-2A>G;ENST00000327305:exon8:c.640-2A>G;ENST00000299430:exon8:c.637-2A>G)	.	.	0.999988247793601	0.93
18	70451143	T	G	18	72783908	y	y	splicing	NETO1(NM_001201465:exon8:c.640-2A>C;NM_138966:exon8:c.640-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon8:c.640-2A>C;ENST00000327305:exon8:c.640-2A>C;ENST00000299430:exon8:c.637-2A>C)	.	.	0.999988247793601	0.93
18	70451144	A	C	18	72783909	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.989004964129886	0.706
18	70451144	A	G	18	72783909	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.30717920990908E-4	0.026
18	70451144	A	T	18	72783909	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0292199361137535	0.214
18	70451145	T	A	18	72783910	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.92802950697674E-5	0.002
18	70451145	T	C	18	72783910	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.35713912652815E-5	0.0
18	70451145	T	G	18	72783910	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.6973470084526E-5	0.0
18	70451146	A	C	18	72783911	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0012898618373368	0.128
18	70451146	A	G	18	72783911	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.8827271105392E-4	0.014
18	70451146	A	T	18	72783911	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.001303925958804	0.136
18	70451147	A	C	18	72783912	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0119553105001608	0.174
18	70451147	A	G	18	72783912	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.58906223185808E-4	0.02
18	70451147	A	T	18	72783912	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0252543415854101	0.172
18	70451148	A	C	18	72783913	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.54035559941388E-4	0.028
18	70451148	A	G	18	72783913	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.40873675455218E-5	0.006
18	70451148	A	T	18	72783913	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.86769108093448E-4	0.022
18	70451149	A	C	18	72783914	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.44359342988354E-4	0.06
18	70451149	A	G	18	72783914	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.9523886884101E-5	0.0
18	70451149	A	T	18	72783914	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.48458273953529E-4	0.078
18	70451150	C	A	18	72783915	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.48656789287144E-4	0.01
18	70451150	C	G	18	72783915	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	9.1335900898476E-5	0.004
18	70451150	C	T	18	72783915	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.60443713152675E-4	0.052
18	70451151	A	C	18	72783916	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.583902349316019	0.566
18	70451151	A	G	18	72783916	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.215446106124929	0.482
18	70451151	A	T	18	72783916	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999940648673808	0.918
18	70451152	A	C	18	72783917	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.71522278643854E-4	0.19
18	70451152	A	G	18	72783917	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00113058702651169	0.058
18	70451152	A	T	18	72783917	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00114371273815097	0.232
18	70451153	A	C	18	72783918	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.86603997512671E-4	0.09
18	70451153	A	G	18	72783918	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.5319622707957E-4	0.024
18	70451153	A	T	18	72783918	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.17712232012526E-4	0.064
18	70461344	A	C	18	72794109	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.01606253311083E-5	0.0
18	70461344	A	G	18	72794109	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.10778896013591E-5	0.0
18	70461344	A	T	18	72794109	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.46552627156223E-5	0.0
18	70461345	G	A	18	72794110	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.38283839835352E-4	0.03
18	70461345	G	C	18	72794110	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.94812295432136E-5	0.0
18	70461345	G	T	18	72794110	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.8643549666191E-5	0.002
18	70461346	A	C	18	72794111	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.990945519893195	0.822
18	70461346	A	G	18	72794111	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.975549349818783	0.742
18	70461346	A	T	18	72794111	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.989892269223152	0.784
18	70461347	C	A	18	72794112	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998484894930441	0.952
18	70461347	C	G	18	72794112	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.995218598104577	0.778
18	70461347	C	T	18	72794112	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.997453326200196	0.99
18	70461348	T	A	18	72794113	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.99653767342413	0.874
18	70461348	T	C	18	72794113	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.993891391327076	0.824
18	70461348	T	G	18	72794113	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996389305509227	0.912
18	70461349	G	A	18	72794114	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.61582746338393E-4	0.012
18	70461349	G	C	18	72794114	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.96151764636062E-4	0.024
18	70461349	G	T	18	72794114	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.45521431867015E-4	0.022
18	70461350	A	C	18	72794115	y	y	splicing	NETO1(NM_001201465:exon7:c.639+2T>G;NM_138966:exon7:c.639+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.639+2T>G;ENST00000327305:exon7:c.639+2T>G;ENST00000299430:exon7:c.636+2T>G)	.	.	0.999989917668626	0.928
18	70461350	A	G	18	72794115	y	y	splicing	NETO1(NM_001201465:exon7:c.639+2T>C;NM_138966:exon7:c.639+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.639+2T>C;ENST00000327305:exon7:c.639+2T>C;ENST00000299430:exon7:c.636+2T>C)	.	.	0.993179459523591	0.658
18	70461350	A	T	18	72794115	y	y	splicing	NETO1(NM_001201465:exon7:c.639+2T>A;NM_138966:exon7:c.639+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.639+2T>A;ENST00000327305:exon7:c.639+2T>A;ENST00000299430:exon7:c.636+2T>A)	.	.	0.999989917668626	0.928
18	70461351	C	A	18	72794116	y	y	splicing	NETO1(NM_001201465:exon7:c.639+1G>T;NM_138966:exon7:c.639+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.639+1G>T;ENST00000327305:exon7:c.639+1G>T;ENST00000299430:exon7:c.636+1G>T)	.	.	0.999981760802075	0.944
18	70461351	C	G	18	72794116	y	y	splicing	NETO1(NM_001201465:exon7:c.639+1G>C;NM_138966:exon7:c.639+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.639+1G>C;ENST00000327305:exon7:c.639+1G>C;ENST00000299430:exon7:c.636+1G>C)	.	.	0.999981760802075	0.944
18	70461351	C	T	18	72794116	y	y	splicing	NETO1(NM_001201465:exon7:c.639+1G>A;NM_138966:exon7:c.639+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.639+1G>A;ENST00000327305:exon7:c.639+1G>A;ENST00000299430:exon7:c.636+1G>A)	.	.	0.999981760802075	0.944
18	70461352	C	A	18	72794117	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.G639T:p.K213N;NETO1:NM_001201465:exon6:c.G639T:p.K213N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.G636T:p.K212N;ENSG00000166342:ENST00000583169:exon6:c.G639T:p.K213N;ENSG00000166342:ENST00000327305:exon6:c.G639T:p.K213N;	0.999978536161159	0.998
18	70461352	C	G	18	72794117	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.G639C:p.K213N;NETO1:NM_001201465:exon6:c.G639C:p.K213N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.G636C:p.K212N;ENSG00000166342:ENST00000583169:exon6:c.G639C:p.K213N;ENSG00000166342:ENST00000327305:exon6:c.G639C:p.K213N;	0.999994688662931	0.998
18	70461352	C	T	18	72794117	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon6:c.G639A:p.K213K;NETO1:NM_001201465:exon6:c.G639A:p.K213K;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.G636A:p.K212K;ENSG00000166342:ENST00000583169:exon6:c.G639A:p.K213K;ENSG00000166342:ENST00000327305:exon6:c.G639A:p.K213K;	0.999968876613095	0.996
18	70461353	T	A	18	72794118	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.A638T:p.K213M;NETO1:NM_001201465:exon6:c.A638T:p.K213M;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.A635T:p.K212M;ENSG00000166342:ENST00000583169:exon6:c.A638T:p.K213M;ENSG00000166342:ENST00000327305:exon6:c.A638T:p.K213M;	0.999708610820521	0.98
18	70461353	T	C	18	72794118	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.A638G:p.K213R;NETO1:NM_001201465:exon6:c.A638G:p.K213R;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.A635G:p.K212R;ENSG00000166342:ENST00000583169:exon6:c.A638G:p.K213R;ENSG00000166342:ENST00000327305:exon6:c.A638G:p.K213R;	0.998715853185013	0.966
18	70461353	T	G	18	72794118	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.A638C:p.K213T;NETO1:NM_001201465:exon6:c.A638C:p.K213T;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.A635C:p.K212T;ENSG00000166342:ENST00000583169:exon6:c.A638C:p.K213T;ENSG00000166342:ENST00000327305:exon6:c.A638C:p.K213T;	0.994469941887082	0.954
18	70461354	T	A	18	72794119	y	y	exonic	NETO1	stopgain SNV	NETO1:NM_138966:exon6:c.A637T:p.K213X;NETO1:NM_001201465:exon6:c.A637T:p.K213X;	exonic	ENSG00000166342	stopgain SNV	ENSG00000166342:ENST00000299430:exon6:c.A634T:p.K212X;ENSG00000166342:ENST00000583169:exon6:c.A637T:p.K213X;ENSG00000166342:ENST00000327305:exon6:c.A637T:p.K213X;	0.951071360385025	0.684
18	70461354	T	C	18	72794119	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.A637G:p.K213E;NETO1:NM_001201465:exon6:c.A637G:p.K213E;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.A634G:p.K212E;ENSG00000166342:ENST00000583169:exon6:c.A637G:p.K213E;ENSG00000166342:ENST00000327305:exon6:c.A637G:p.K213E;	0.165292953315991	0.474
18	70461354	T	G	18	72794119	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.A637C:p.K213Q;NETO1:NM_001201465:exon6:c.A637C:p.K213Q;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.A634C:p.K212Q;ENSG00000166342:ENST00000583169:exon6:c.A637C:p.K213Q;ENSG00000166342:ENST00000327305:exon6:c.A637C:p.K213Q;	0.572432348835104	0.67
18	70461478	C	A	18	72794243	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon6:c.G513T:p.A171A;NETO1:NM_001201465:exon6:c.G513T:p.A171A;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.G510T:p.A170A;ENSG00000166342:ENST00000583169:exon6:c.G513T:p.A171A;ENSG00000166342:ENST00000327305:exon6:c.G513T:p.A171A;	1.09677414286196E-4	0.02
18	70461478	C	G	18	72794243	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon6:c.G513C:p.A171A;NETO1:NM_001201465:exon6:c.G513C:p.A171A;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.G510C:p.A170A;ENSG00000166342:ENST00000583169:exon6:c.G513C:p.A171A;ENSG00000166342:ENST00000327305:exon6:c.G513C:p.A171A;	6.56014579858717E-4	0.04
18	70461478	C	T	18	72794243	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon6:c.G513A:p.A171A;NETO1:NM_001201465:exon6:c.G513A:p.A171A;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.G510A:p.A170A;ENSG00000166342:ENST00000583169:exon6:c.G513A:p.A171A;ENSG00000166342:ENST00000327305:exon6:c.G513A:p.A171A;	3.44249578755689E-4	0.052
18	70461479	G	A	18	72794244	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.C512T:p.A171V;NETO1:NM_001201465:exon6:c.C512T:p.A171V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.C509T:p.A170V;ENSG00000166342:ENST00000583169:exon6:c.C512T:p.A171V;ENSG00000166342:ENST00000327305:exon6:c.C512T:p.A171V;	2.08086357432744E-4	0.154
18	70461479	G	C	18	72794244	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.C512G:p.A171G;NETO1:NM_001201465:exon6:c.C512G:p.A171G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.C509G:p.A170G;ENSG00000166342:ENST00000583169:exon6:c.C512G:p.A171G;ENSG00000166342:ENST00000327305:exon6:c.C512G:p.A171G;	5.8334636350132E-5	0.096
18	70461479	G	T	18	72794244	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon6:c.C512A:p.A171E;NETO1:NM_001201465:exon6:c.C512A:p.A171E;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon6:c.C509A:p.A170E;ENSG00000166342:ENST00000583169:exon6:c.C512A:p.A171E;ENSG00000166342:ENST00000327305:exon6:c.C512A:p.A171E;	1.58645906776164E-5	0.0
18	70461480	C	A	18	72794245	y	y	splicing	NETO1(NM_001201465:exon7:c.512-1G>T;NM_138966:exon7:c.512-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.512-1G>T;ENST00000327305:exon7:c.512-1G>T;ENST00000299430:exon7:c.509-1G>T)	.	.	0.999988630721284	0.94
18	70461480	C	G	18	72794245	y	y	splicing	NETO1(NM_001201465:exon7:c.512-1G>C;NM_138966:exon7:c.512-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.512-1G>C;ENST00000327305:exon7:c.512-1G>C;ENST00000299430:exon7:c.509-1G>C)	.	.	0.999988630721284	0.94
18	70461480	C	T	18	72794245	y	y	splicing	NETO1(NM_001201465:exon7:c.512-1G>A;NM_138966:exon7:c.512-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.512-1G>A;ENST00000327305:exon7:c.512-1G>A;ENST00000299430:exon7:c.509-1G>A)	.	.	0.999988630721284	0.94
18	70461481	T	A	18	72794246	y	y	splicing	NETO1(NM_001201465:exon7:c.512-2A>T;NM_138966:exon7:c.512-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.512-2A>T;ENST00000327305:exon7:c.512-2A>T;ENST00000299430:exon7:c.509-2A>T)	.	.	0.999989475352021	0.93
18	70461481	T	C	18	72794246	y	y	splicing	NETO1(NM_001201465:exon7:c.512-2A>G;NM_138966:exon7:c.512-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.512-2A>G;ENST00000327305:exon7:c.512-2A>G;ENST00000299430:exon7:c.509-2A>G)	.	.	0.999989475352021	0.93
18	70461481	T	G	18	72794246	y	y	splicing	NETO1(NM_001201465:exon7:c.512-2A>C;NM_138966:exon7:c.512-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon7:c.512-2A>C;ENST00000327305:exon7:c.512-2A>C;ENST00000299430:exon7:c.509-2A>C)	.	.	0.999989475352021	0.93
18	70461482	A	C	18	72794247	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.979299571082099	0.67
18	70461482	A	G	18	72794247	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.0356980204306E-4	0.032
18	70461482	A	T	18	72794247	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0163361927416752	0.352
18	70461483	A	C	18	72794248	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00242243845184548	0.072
18	70461483	A	G	18	72794248	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.63546918438708E-4	0.082
18	70461483	A	T	18	72794248	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.004024771093488	0.03
18	70461484	A	C	18	72794249	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999957517198447	0.972
18	70461484	A	G	18	72794249	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00507129621926893	0.206
18	70461484	A	T	18	72794249	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.692571489288993	0.53
18	70461485	T	A	18	72794250	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.6801818471415E-5	0.022
18	70461485	T	C	18	72794250	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.28706743178974E-4	0.012
18	70461485	T	G	18	72794250	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.09538900399108E-5	0.002
18	70461486	A	C	18	72794251	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00308129591548417	0.194
18	70461486	A	G	18	72794251	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.2523212100952E-4	0.036
18	70461486	A	T	18	72794251	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0205779755736264	0.21
18	70461487	A	C	18	72794252	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.333957384252277	0.518
18	70461487	A	G	18	72794252	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00135523602001639	0.018
18	70461487	A	T	18	72794252	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.872397185281995	0.558
18	70461488	C	A	18	72794253	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.8321699467487E-4	0.05
18	70461488	C	G	18	72794253	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00112860001724936	0.058
18	70461488	C	T	18	72794253	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00847412614309946	0.08
18	70461489	A	C	18	72794254	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.870192178264521	0.532
18	70461489	A	G	18	72794254	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00241252387688185	0.16
18	70461489	A	T	18	72794254	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999992354478103	0.936
18	70461490	A	C	18	72794255	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.584539980626445	0.676
18	70461490	A	G	18	72794255	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00337822566727096	0.134
18	70461490	A	T	18	72794255	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.909294979188204	0.71
18	70461491	A	C	18	72794256	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0147333928091037	0.458
18	70461491	A	G	18	72794256	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00131078545009073	0.128
18	70461491	A	T	18	72794256	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0179441004851974	0.46
18	70461590	T	A	18	72794355	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.98436799062556E-4	0.006
18	70461590	T	C	18	72794355	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.68325245061816E-4	0.084
18	70461590	T	G	18	72794355	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.44742421391673E-4	0.008
18	70461591	T	A	18	72794356	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00243483211121124	0.008
18	70461591	T	C	18	72794356	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00209065413126638	0.002
18	70461591	T	G	18	72794356	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00213041263917906	0.01
18	70461592	A	C	18	72794357	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996701738335331	0.914
18	70461592	A	G	18	72794357	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.980810286224391	0.848
18	70461592	A	T	18	72794357	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996913741844897	0.79
18	70461593	C	A	18	72794358	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999939518547984	0.968
18	70461593	C	G	18	72794358	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999901484746711	0.998
18	70461593	C	T	18	72794358	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999754125159866	1.0
18	70461594	C	A	18	72794359	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.56829419396316E-4	0.08
18	70461594	C	G	18	72794359	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.82245572875971E-4	0.16
18	70461594	C	T	18	72794359	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.32469967914551E-4	0.058
18	70461595	A	C	18	72794360	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.93914335824354E-4	0.242
18	70461595	A	G	18	72794360	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0129421115630367	0.136
18	70461595	A	T	18	72794360	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	9.97779749235211E-4	0.09
18	70461596	A	C	18	72794361	y	y	splicing	NETO1(NM_001201465:exon6:c.511+2T>G;NM_138966:exon6:c.511+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.511+2T>G;ENST00000327305:exon6:c.511+2T>G;ENST00000299430:exon6:c.508+2T>G)	.	.	0.999990764389106	0.944
18	70461596	A	G	18	72794361	y	y	splicing	NETO1(NM_001201465:exon6:c.511+2T>C;NM_138966:exon6:c.511+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.511+2T>C;ENST00000327305:exon6:c.511+2T>C;ENST00000299430:exon6:c.508+2T>C)	.	.	0.994010752020144	0.686
18	70461596	A	T	18	72794361	y	y	splicing	NETO1(NM_001201465:exon6:c.511+2T>A;NM_138966:exon6:c.511+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.511+2T>A;ENST00000327305:exon6:c.511+2T>A;ENST00000299430:exon6:c.508+2T>A)	.	.	0.999990764389106	0.944
18	70461597	C	A	18	72794362	y	y	splicing	NETO1(NM_001201465:exon6:c.511+1G>T;NM_138966:exon6:c.511+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.511+1G>T;ENST00000327305:exon6:c.511+1G>T;ENST00000299430:exon6:c.508+1G>T)	.	.	0.999988630721284	0.942
18	70461597	C	G	18	72794362	y	y	splicing	NETO1(NM_001201465:exon6:c.511+1G>C;NM_138966:exon6:c.511+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.511+1G>C;ENST00000327305:exon6:c.511+1G>C;ENST00000299430:exon6:c.508+1G>C)	.	.	0.999988630721284	0.942
18	70461597	C	T	18	72794362	y	y	splicing	NETO1(NM_001201465:exon6:c.511+1G>A;NM_138966:exon6:c.511+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.511+1G>A;ENST00000327305:exon6:c.511+1G>A;ENST00000299430:exon6:c.508+1G>A)	.	.	0.999988630721284	0.942
18	70461598	C	A	18	72794363	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.G511T:p.A171S;NETO1:NM_001201465:exon5:c.G511T:p.A171S;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.G508T:p.A170S;ENSG00000166342:ENST00000583169:exon5:c.G511T:p.A171S;ENSG00000166342:ENST00000327305:exon5:c.G511T:p.A171S;	0.99998135420567	0.998
18	70461598	C	G	18	72794363	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.G511C:p.A171P;NETO1:NM_001201465:exon5:c.G511C:p.A171P;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.G508C:p.A170P;ENSG00000166342:ENST00000583169:exon5:c.G511C:p.A171P;ENSG00000166342:ENST00000327305:exon5:c.G511C:p.A171P;	0.999992410377179	0.978
18	70461598	C	T	18	72794363	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.G511A:p.A171T;NETO1:NM_001201465:exon5:c.G511A:p.A171T;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.G508A:p.A170T;ENSG00000166342:ENST00000583169:exon5:c.G511A:p.A171T;ENSG00000166342:ENST00000327305:exon5:c.G511A:p.A171T;	0.999968027837309	0.99
18	70461599	T	A	18	72794364	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon5:c.A510T:p.P170P;NETO1:NM_001201465:exon5:c.A510T:p.P170P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.A507T:p.P169P;ENSG00000166342:ENST00000583169:exon5:c.A510T:p.P170P;ENSG00000166342:ENST00000327305:exon5:c.A510T:p.P170P;	0.999610065513501	1.0
18	70461599	T	C	18	72794364	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon5:c.A510G:p.P170P;NETO1:NM_001201465:exon5:c.A510G:p.P170P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.A507G:p.P169P;ENSG00000166342:ENST00000583169:exon5:c.A510G:p.P170P;ENSG00000166342:ENST00000327305:exon5:c.A510G:p.P170P;	0.999328151434708	0.992
18	70461599	T	G	18	72794364	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon5:c.A510C:p.P170P;NETO1:NM_001201465:exon5:c.A510C:p.P170P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.A507C:p.P169P;ENSG00000166342:ENST00000583169:exon5:c.A510C:p.P170P;ENSG00000166342:ENST00000327305:exon5:c.A510C:p.P170P;	0.999485040288642	0.994
18	70461600	G	A	18	72794365	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.C509T:p.P170L;NETO1:NM_001201465:exon5:c.C509T:p.P170L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.C506T:p.P169L;ENSG00000166342:ENST00000583169:exon5:c.C509T:p.P170L;ENSG00000166342:ENST00000327305:exon5:c.C509T:p.P170L;	0.99205198116501	0.83
18	70461600	G	C	18	72794365	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.C509G:p.P170R;NETO1:NM_001201465:exon5:c.C509G:p.P170R;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.C506G:p.P169R;ENSG00000166342:ENST00000583169:exon5:c.C509G:p.P170R;ENSG00000166342:ENST00000327305:exon5:c.C509G:p.P170R;	0.392642502417871	0.374
18	70461600	G	T	18	72794365	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.C509A:p.P170Q;NETO1:NM_001201465:exon5:c.C509A:p.P170Q;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.C506A:p.P169Q;ENSG00000166342:ENST00000583169:exon5:c.C509A:p.P170Q;ENSG00000166342:ENST00000327305:exon5:c.C509A:p.P170Q;	0.1648319755437	0.506
18	70461638	A	C	18	72794403	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.T471G:p.D157E;NETO1:NM_001201465:exon5:c.T471G:p.D157E;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.T468G:p.D156E;ENSG00000166342:ENST00000583169:exon5:c.T471G:p.D157E;ENSG00000166342:ENST00000327305:exon5:c.T471G:p.D157E;	0.0969579466352127	0.218
18	70461638	A	G	18	72794403	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon5:c.T471C:p.D157D;NETO1:NM_001201465:exon5:c.T471C:p.D157D;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.T468C:p.D156D;ENSG00000166342:ENST00000583169:exon5:c.T471C:p.D157D;ENSG00000166342:ENST00000327305:exon5:c.T471C:p.D157D;	0.0273782858180919	0.13
18	70461638	A	T	18	72794403	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.T471A:p.D157E;NETO1:NM_001201465:exon5:c.T471A:p.D157E;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.T468A:p.D156E;ENSG00000166342:ENST00000583169:exon5:c.T471A:p.D157E;ENSG00000166342:ENST00000327305:exon5:c.T471A:p.D157E;	0.0998431427425921	0.236
18	70461639	T	A	18	72794404	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.A470T:p.D157V;NETO1:NM_001201465:exon5:c.A470T:p.D157V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.A467T:p.D156V;ENSG00000166342:ENST00000583169:exon5:c.A470T:p.D157V;ENSG00000166342:ENST00000327305:exon5:c.A470T:p.D157V;	0.866026520057711	0.524
18	70461639	T	C	18	72794404	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.A470G:p.D157G;NETO1:NM_001201465:exon5:c.A470G:p.D157G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.A467G:p.D156G;ENSG00000166342:ENST00000583169:exon5:c.A470G:p.D157G;ENSG00000166342:ENST00000327305:exon5:c.A470G:p.D157G;	0.553331742707648	0.618
18	70461639	T	G	18	72794404	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon5:c.A470C:p.D157A;NETO1:NM_001201465:exon5:c.A470C:p.D157A;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000299430:exon5:c.A467C:p.D156A;ENSG00000166342:ENST00000583169:exon5:c.A470C:p.D157A;ENSG00000166342:ENST00000327305:exon5:c.A470C:p.D157A;	0.879918569875674	0.566
18	70461640	C	A	18	72794405	y	y	splicing	NETO1(NM_001201465:exon6:c.470-1G>T;NM_138966:exon6:c.470-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.470-1G>T;ENST00000327305:exon6:c.470-1G>T;ENST00000299430:exon6:c.467-1G>T)	.	.	0.999983677848485	0.942
18	70461640	C	G	18	72794405	y	y	splicing	NETO1(NM_001201465:exon6:c.470-1G>C;NM_138966:exon6:c.470-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.470-1G>C;ENST00000327305:exon6:c.470-1G>C;ENST00000299430:exon6:c.467-1G>C)	.	.	0.999983677848485	0.942
18	70461640	C	T	18	72794405	y	y	splicing	NETO1(NM_001201465:exon6:c.470-1G>A;NM_138966:exon6:c.470-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.470-1G>A;ENST00000327305:exon6:c.470-1G>A;ENST00000299430:exon6:c.467-1G>A)	.	.	0.999983677848485	0.942
18	70461641	T	A	18	72794406	y	y	splicing	NETO1(NM_001201465:exon6:c.470-2A>T;NM_138966:exon6:c.470-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.470-2A>T;ENST00000327305:exon6:c.470-2A>T;ENST00000299430:exon6:c.467-2A>T)	.	.	0.999986741007567	0.944
18	70461641	T	C	18	72794406	y	y	splicing	NETO1(NM_001201465:exon6:c.470-2A>G;NM_138966:exon6:c.470-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.470-2A>G;ENST00000327305:exon6:c.470-2A>G;ENST00000299430:exon6:c.467-2A>G)	.	.	0.999986741007567	0.944
18	70461641	T	G	18	72794406	y	y	splicing	NETO1(NM_001201465:exon6:c.470-2A>C;NM_138966:exon6:c.470-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon6:c.470-2A>C;ENST00000327305:exon6:c.470-2A>C;ENST00000299430:exon6:c.467-2A>C)	.	.	0.999986741007567	0.944
18	70461642	T	A	18	72794407	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.50691273047106E-4	0.022
18	70461642	T	C	18	72794407	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.80890376702497	0.338
18	70461642	T	G	18	72794407	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.87148319608639E-4	0.032
18	70461643	A	C	18	72794408	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.54773222058533E-4	0.046
18	70461643	A	G	18	72794408	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.89710556303439E-4	0.022
18	70461643	A	T	18	72794408	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00118081248294904	0.028
18	70461644	A	C	18	72794409	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999386447410431	0.954
18	70461644	A	G	18	72794409	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.301683926519428	0.422
18	70461644	A	T	18	72794409	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999230294957124	0.966
18	70461645	A	C	18	72794410	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.997499045831939	0.848
18	70461645	A	G	18	72794410	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00489206520554033	0.144
18	70461645	A	T	18	72794410	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998158297150078	0.852
18	70461646	A	C	18	72794411	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.784623215892678	0.606
18	70461646	A	G	18	72794411	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00713260970108853	0.106
18	70461646	A	T	18	72794411	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.815091100881262	0.674
18	70461647	A	C	18	72794412	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999916173372767	0.994
18	70461647	A	G	18	72794412	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.9753314322947E-4	0.014
18	70461647	A	T	18	72794412	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0418455061123518	0.392
18	70461648	T	A	18	72794413	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.58115765722639E-5	0.204
18	70461648	T	C	18	72794413	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998922595362129	0.938
18	70461648	T	G	18	72794413	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.79670265389705E-5	0.122
18	70461649	T	A	18	72794414	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.71262859030824E-4	0.438
18	70461649	T	C	18	72794414	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.55155397017331E-4	0.176
18	70461649	T	G	18	72794414	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.39093704670658E-4	0.318
18	70461650	G	A	18	72794415	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0122767647589598	0.292
18	70461650	G	C	18	72794415	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0739431837143916	0.17
18	70461650	G	T	18	72794415	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0279040595771757	0.184
18	70461651	A	C	18	72794416	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.983732769747437	0.844
18	70461651	A	G	18	72794416	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0242895799080797	0.168
18	70461651	A	T	18	72794416	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.956178544411977	0.796
18	70502553	T	A	18	72835318	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon5:c.A468T:p.E156D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon5:c.A468T:p.E156D;	2.61707993540616E-5	0.0
18	70502553	T	C	18	72835318	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138999:exon5:c.A468G:p.E156E;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000397929:exon5:c.A468G:p.E156E;	9.06619588578661E-5	0.006
18	70502553	T	G	18	72835318	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon5:c.A468C:p.E156D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon5:c.A468C:p.E156D;	2.61707993540616E-5	0.0
18	70502554	T	A	18	72835319	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon5:c.A467T:p.E156V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon5:c.A467T:p.E156V;	2.33698758487849E-4	0.042
18	70502554	T	C	18	72835319	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon5:c.A467G:p.E156G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon5:c.A467G:p.E156G;	1.5982790009972E-4	0.004
18	70502554	T	G	18	72835319	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon5:c.A467C:p.E156A;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon5:c.A467C:p.E156A;	2.33698758487849E-4	0.022
18	70502555	C	A	18	72835320	y	y	splicing	NETO1(NM_138999:exon6:c.467-1G>T)	.	.	splicing	ENSG00000166342(ENST00000397929:exon6:c.467-1G>T)	.	.	9.18892942406909E-5	0.018
18	70502555	C	G	18	72835320	y	y	splicing	NETO1(NM_138999:exon6:c.467-1G>C)	.	.	splicing	ENSG00000166342(ENST00000397929:exon6:c.467-1G>C)	.	.	9.18892942406909E-5	0.018
18	70502555	C	T	18	72835320	y	y	splicing	NETO1(NM_138999:exon6:c.467-1G>A)	.	.	splicing	ENSG00000166342(ENST00000397929:exon6:c.467-1G>A)	.	.	9.18892942406909E-5	0.016
18	70502556	T	A	18	72835321	y	y	splicing	NETO1(NM_138999:exon6:c.467-2A>T)	.	.	splicing	ENSG00000166342(ENST00000397929:exon6:c.467-2A>T)	.	.	3.79263055397885E-5	0.008
18	70502556	T	C	18	72835321	y	y	splicing	NETO1(NM_138999:exon6:c.467-2A>G)	.	.	splicing	ENSG00000166342(ENST00000397929:exon6:c.467-2A>G)	.	.	3.79263055397885E-5	0.008
18	70502556	T	G	18	72835321	y	y	splicing	NETO1(NM_138999:exon6:c.467-2A>C)	.	.	splicing	ENSG00000166342(ENST00000397929:exon6:c.467-2A>C)	.	.	3.79263055397885E-5	0.008
18	70502557	G	A	18	72835322	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.687767965882E-5	0.054
18	70502557	G	C	18	72835322	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.74714960904026E-5	0.05
18	70502557	G	T	18	72835322	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.687767965882E-5	0.056
18	70502558	G	A	18	72835323	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.71811775086873E-5	0.024
18	70502558	G	C	18	72835323	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.71811775086873E-5	0.008
18	70502558	G	T	18	72835323	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.71811775086873E-5	0.014
18	70502559	A	C	18	72835324	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.96404089075045E-5	0.006
18	70502559	A	G	18	72835324	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.96404089075045E-5	0.006
18	70502559	A	T	18	72835324	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.38731564659595E-5	0.01
18	70502560	G	A	18	72835325	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.59802355779309E-5	0.0
18	70502560	G	C	18	72835325	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.59802355779309E-5	0.0
18	70502560	G	T	18	72835325	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.59802355779309E-5	0.0
18	70502561	G	A	18	72835326	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.00286289604843E-5	0.0
18	70502561	G	C	18	72835326	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.00286289604843E-5	0.0
18	70502561	G	T	18	72835326	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.00286289604843E-5	0.0
18	70502562	C	A	18	72835327	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.86431456331734E-5	0.004
18	70502562	C	G	18	72835327	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.86431456331734E-5	0.004
18	70502562	C	T	18	72835327	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.01163773767764E-5	0.004
18	70502563	A	C	18	72835328	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.84729574776877E-5	0.0
18	70502563	A	G	18	72835328	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.84729574776877E-5	0.0
18	70502563	A	T	18	72835328	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.99263190704948E-5	0.0
18	70502564	A	C	18	72835329	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.38731564659595E-5	0.006
18	70502564	A	G	18	72835329	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.38731564659595E-5	0.006
18	70502564	A	T	18	72835329	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.38731564659595E-5	0.006
18	70502565	A	C	18	72835330	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.29994972594758E-5	0.006
18	70502565	A	G	18	72835330	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.29994972594758E-5	0.006
18	70502565	A	T	18	72835330	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.29994972594758E-5	0.01
18	70502566	G	A	18	72835331	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.74480241737554E-4	0.004
18	70502566	G	C	18	72835331	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.74480241737554E-4	0.002
18	70502566	G	T	18	72835331	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.74480241737554E-4	0.002
18	70526053	T	A	18	72858818	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.85831708122469E-4	0.004
18	70526053	T	C	18	72858818	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.65106901546758E-5	0.008
18	70526053	T	G	18	72858818	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.08048276557464E-4	0.012
18	70526054	T	A	18	72858819	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.08219094650856E-4	0.006
18	70526054	T	C	18	72858819	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.2872901672339E-4	0.014
18	70526054	T	G	18	72858819	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.17956410444024E-4	0.008
18	70526055	A	C	18	72858820	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00616856922052542	0.204
18	70526055	A	G	18	72858820	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.054113911749996	0.346
18	70526055	A	T	18	72858820	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0369041854191998	0.304
18	70526056	C	A	18	72858821	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998442623276762	0.928
18	70526056	C	G	18	72858821	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996484026086399	0.874
18	70526056	C	T	18	72858821	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998997519376214	0.904
18	70526057	T	A	18	72858822	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.964207311051325	0.694
18	70526057	T	C	18	72858822	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.974950184666029	0.696
18	70526057	T	G	18	72858822	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.924330694101293	0.64
18	70526058	T	A	18	72858823	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.976741308294596	0.69
18	70526058	T	C	18	72858823	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00373915838619517	0.158
18	70526058	T	G	18	72858823	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.991411233775027	0.756
18	70526059	A	C	18	72858824	y	y	splicing	NETO1(NM_001201465:exon5:c.469+2T>G;NM_138966:exon5:c.469+2T>G;NM_138999:exon5:c.466+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.469+2T>G;ENST00000327305:exon5:c.469+2T>G;ENST00000299430:exon5:c.466+2T>G;ENST00000397929:exon5:c.466+2T>G)	.	.	0.999989917668626	0.928
18	70526059	A	G	18	72858824	y	y	splicing	NETO1(NM_001201465:exon5:c.469+2T>C;NM_138966:exon5:c.469+2T>C;NM_138999:exon5:c.466+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.469+2T>C;ENST00000327305:exon5:c.469+2T>C;ENST00000299430:exon5:c.466+2T>C;ENST00000397929:exon5:c.466+2T>C)	.	.	0.993179459523591	0.63
18	70526059	A	T	18	72858824	y	y	splicing	NETO1(NM_001201465:exon5:c.469+2T>A;NM_138966:exon5:c.469+2T>A;NM_138999:exon5:c.466+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.469+2T>A;ENST00000327305:exon5:c.469+2T>A;ENST00000299430:exon5:c.466+2T>A;ENST00000397929:exon5:c.466+2T>A)	.	.	0.999989917668626	0.928
18	70526060	C	A	18	72858825	y	y	splicing	NETO1(NM_001201465:exon5:c.469+1G>T;NM_138966:exon5:c.469+1G>T;NM_138999:exon5:c.466+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.469+1G>T;ENST00000327305:exon5:c.469+1G>T;ENST00000299430:exon5:c.466+1G>T;ENST00000397929:exon5:c.466+1G>T)	.	.	0.999981760802075	0.94
18	70526060	C	G	18	72858825	y	y	splicing	NETO1(NM_001201465:exon5:c.469+1G>C;NM_138966:exon5:c.469+1G>C;NM_138999:exon5:c.466+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.469+1G>C;ENST00000327305:exon5:c.469+1G>C;ENST00000299430:exon5:c.466+1G>C;ENST00000397929:exon5:c.466+1G>C)	.	.	0.999981760802075	0.94
18	70526060	C	T	18	72858825	y	y	splicing	NETO1(NM_001201465:exon5:c.469+1G>A;NM_138966:exon5:c.469+1G>A;NM_138999:exon5:c.466+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.469+1G>A;ENST00000327305:exon5:c.469+1G>A;ENST00000299430:exon5:c.466+1G>A;ENST00000397929:exon5:c.466+1G>A)	.	.	0.999981760802075	0.94
18	70526061	C	A	18	72858826	y	y	exonic	NETO1	stopgain SNV	NETO1:NM_138999:exon4:c.G466T:p.E156X;	exonic	ENSG00000166342	stopgain SNV	ENSG00000166342:ENST00000397929:exon4:c.G466T:p.E156X;	0.999644972526701	0.954
18	70526061	C	G	18	72858826	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon4:c.G469C:p.D157H;NETO1:NM_138999:exon4:c.G466C:p.E156Q;NETO1:NM_001201465:exon4:c.G469C:p.D157H;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon4:c.G466C:p.E156Q;ENSG00000166342:ENST00000299430:exon4:c.G466C:p.D156H;ENSG00000166342:ENST00000583169:exon4:c.G469C:p.D157H;ENSG00000166342:ENST00000327305:exon4:c.G469C:p.D157H;	0.999868252859521	0.952
18	70526061	C	T	18	72858826	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon4:c.G469A:p.D157N;NETO1:NM_138999:exon4:c.G466A:p.E156K;NETO1:NM_001201465:exon4:c.G469A:p.D157N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon4:c.G466A:p.E156K;ENSG00000166342:ENST00000299430:exon4:c.G466A:p.D156N;ENSG00000166342:ENST00000583169:exon4:c.G469A:p.D157N;ENSG00000166342:ENST00000327305:exon4:c.G469A:p.D157N;	0.999582017030814	0.974
18	70526062	A	C	18	72858827	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon4:c.T468G:p.P156P;NETO1:NM_138999:exon4:c.T465G:p.P155P;NETO1:NM_001201465:exon4:c.T468G:p.P156P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000397929:exon4:c.T465G:p.P155P;ENSG00000166342:ENST00000299430:exon4:c.T465G:p.P155P;ENSG00000166342:ENST00000583169:exon4:c.T468G:p.P156P;ENSG00000166342:ENST00000327305:exon4:c.T468G:p.P156P;	0.114899604606028	0.338
18	70526062	A	G	18	72858827	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon4:c.T468C:p.P156P;NETO1:NM_138999:exon4:c.T465C:p.P155P;NETO1:NM_001201465:exon4:c.T468C:p.P156P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000397929:exon4:c.T465C:p.P155P;ENSG00000166342:ENST00000299430:exon4:c.T465C:p.P155P;ENSG00000166342:ENST00000583169:exon4:c.T468C:p.P156P;ENSG00000166342:ENST00000327305:exon4:c.T468C:p.P156P;	0.0993535936944117	0.27
18	70526062	A	T	18	72858827	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon4:c.T468A:p.P156P;NETO1:NM_138999:exon4:c.T465A:p.P155P;NETO1:NM_001201465:exon4:c.T468A:p.P156P;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000397929:exon4:c.T465A:p.P155P;ENSG00000166342:ENST00000299430:exon4:c.T465A:p.P155P;ENSG00000166342:ENST00000583169:exon4:c.T468A:p.P156P;ENSG00000166342:ENST00000327305:exon4:c.T468A:p.P156P;	0.0223513176119368	0.282
18	70526063	G	A	18	72858828	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon4:c.C467T:p.P156L;NETO1:NM_138999:exon4:c.C464T:p.P155L;NETO1:NM_001201465:exon4:c.C467T:p.P156L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon4:c.C464T:p.P155L;ENSG00000166342:ENST00000299430:exon4:c.C464T:p.P155L;ENSG00000166342:ENST00000583169:exon4:c.C467T:p.P156L;ENSG00000166342:ENST00000327305:exon4:c.C467T:p.P156L;	0.991457525645	0.524
18	70526063	G	C	18	72858828	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon4:c.C467G:p.P156R;NETO1:NM_138999:exon4:c.C464G:p.P155R;NETO1:NM_001201465:exon4:c.C467G:p.P156R;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon4:c.C464G:p.P155R;ENSG00000166342:ENST00000299430:exon4:c.C464G:p.P155R;ENSG00000166342:ENST00000583169:exon4:c.C467G:p.P156R;ENSG00000166342:ENST00000327305:exon4:c.C467G:p.P156R;	0.746666959028867	0.51
18	70526063	G	T	18	72858828	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon4:c.C467A:p.P156H;NETO1:NM_138999:exon4:c.C464A:p.P155H;NETO1:NM_001201465:exon4:c.C467A:p.P156H;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon4:c.C464A:p.P155H;ENSG00000166342:ENST00000299430:exon4:c.C464A:p.P155H;ENSG00000166342:ENST00000583169:exon4:c.C467A:p.P156H;ENSG00000166342:ENST00000327305:exon4:c.C467A:p.P156H;	0.925369897184469	0.772
18	70526308	G	A	18	72859073	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon4:c.C222T:p.A74A;NETO1:NM_138999:exon4:c.C219T:p.A73A;NETO1:NM_001201465:exon4:c.C222T:p.A74A;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon4:c.C210T:p.A70A;ENSG00000166342:ENST00000397929:exon4:c.C219T:p.A73A;ENSG00000166342:ENST00000299430:exon4:c.C219T:p.A73A;ENSG00000166342:ENST00000583169:exon4:c.C222T:p.A74A;ENSG00000166342:ENST00000327305:exon4:c.C222T:p.A74A;	2.08324077007651E-5	0.0
18	70526308	G	C	18	72859073	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon4:c.C222G:p.A74A;NETO1:NM_138999:exon4:c.C219G:p.A73A;NETO1:NM_001201465:exon4:c.C222G:p.A74A;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon4:c.C210G:p.A70A;ENSG00000166342:ENST00000397929:exon4:c.C219G:p.A73A;ENSG00000166342:ENST00000299430:exon4:c.C219G:p.A73A;ENSG00000166342:ENST00000583169:exon4:c.C222G:p.A74A;ENSG00000166342:ENST00000327305:exon4:c.C222G:p.A74A;	4.38479899751973E-5	0.018
18	70526308	G	T	18	72859073	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon4:c.C222A:p.A74A;NETO1:NM_138999:exon4:c.C219A:p.A73A;NETO1:NM_001201465:exon4:c.C222A:p.A74A;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon4:c.C210A:p.A70A;ENSG00000166342:ENST00000397929:exon4:c.C219A:p.A73A;ENSG00000166342:ENST00000299430:exon4:c.C219A:p.A73A;ENSG00000166342:ENST00000583169:exon4:c.C222A:p.A74A;ENSG00000166342:ENST00000327305:exon4:c.C222A:p.A74A;	1.19505850613692E-4	0.014
18	70526309	G	A	18	72859074	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon4:c.C221T:p.A74V;NETO1:NM_138999:exon4:c.C218T:p.A73V;NETO1:NM_001201465:exon4:c.C221T:p.A74V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon4:c.C209T:p.A70V;ENSG00000166342:ENST00000397929:exon4:c.C218T:p.A73V;ENSG00000166342:ENST00000299430:exon4:c.C218T:p.A73V;ENSG00000166342:ENST00000583169:exon4:c.C221T:p.A74V;ENSG00000166342:ENST00000327305:exon4:c.C221T:p.A74V;	0.983478036981955	0.888
18	70526309	G	C	18	72859074	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon4:c.C221G:p.A74G;NETO1:NM_138999:exon4:c.C218G:p.A73G;NETO1:NM_001201465:exon4:c.C221G:p.A74G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon4:c.C209G:p.A70G;ENSG00000166342:ENST00000397929:exon4:c.C218G:p.A73G;ENSG00000166342:ENST00000299430:exon4:c.C218G:p.A73G;ENSG00000166342:ENST00000583169:exon4:c.C221G:p.A74G;ENSG00000166342:ENST00000327305:exon4:c.C221G:p.A74G;	0.950482793858615	0.73
18	70526309	G	T	18	72859074	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon4:c.C221A:p.A74D;NETO1:NM_138999:exon4:c.C218A:p.A73D;NETO1:NM_001201465:exon4:c.C221A:p.A74D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon4:c.C209A:p.A70D;ENSG00000166342:ENST00000397929:exon4:c.C218A:p.A73D;ENSG00000166342:ENST00000299430:exon4:c.C218A:p.A73D;ENSG00000166342:ENST00000583169:exon4:c.C221A:p.A74D;ENSG00000166342:ENST00000327305:exon4:c.C221A:p.A74D;	0.953373326959903	0.808
18	70526310	C	A	18	72859075	y	y	splicing	NETO1(NM_001201465:exon5:c.221-1G>T;NM_138966:exon5:c.221-1G>T;NM_138999:exon5:c.218-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.221-1G>T;ENST00000327305:exon5:c.221-1G>T;ENST00000299430:exon5:c.218-1G>T;ENST00000397929:exon5:c.218-1G>T;ENST00000579169:exon5:c.209-1G>T)	.	.	0.999986675681007	0.938
18	70526310	C	G	18	72859075	y	y	splicing	NETO1(NM_001201465:exon5:c.221-1G>C;NM_138966:exon5:c.221-1G>C;NM_138999:exon5:c.218-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.221-1G>C;ENST00000327305:exon5:c.221-1G>C;ENST00000299430:exon5:c.218-1G>C;ENST00000397929:exon5:c.218-1G>C;ENST00000579169:exon5:c.209-1G>C)	.	.	0.999986675681007	0.938
18	70526310	C	T	18	72859075	y	y	splicing	NETO1(NM_001201465:exon5:c.221-1G>A;NM_138966:exon5:c.221-1G>A;NM_138999:exon5:c.218-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.221-1G>A;ENST00000327305:exon5:c.221-1G>A;ENST00000299430:exon5:c.218-1G>A;ENST00000397929:exon5:c.218-1G>A;ENST00000579169:exon5:c.209-1G>A)	.	.	0.999986675681007	0.938
18	70526311	T	A	18	72859076	y	y	splicing	NETO1(NM_001201465:exon5:c.221-2A>T;NM_138966:exon5:c.221-2A>T;NM_138999:exon5:c.218-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.221-2A>T;ENST00000327305:exon5:c.221-2A>T;ENST00000299430:exon5:c.218-2A>T;ENST00000397929:exon5:c.218-2A>T;ENST00000579169:exon5:c.209-2A>T)	.	.	0.999989917668626	0.928
18	70526311	T	C	18	72859076	y	y	splicing	NETO1(NM_001201465:exon5:c.221-2A>G;NM_138966:exon5:c.221-2A>G;NM_138999:exon5:c.218-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.221-2A>G;ENST00000327305:exon5:c.221-2A>G;ENST00000299430:exon5:c.218-2A>G;ENST00000397929:exon5:c.218-2A>G;ENST00000579169:exon5:c.209-2A>G)	.	.	0.999989917668626	0.926
18	70526311	T	G	18	72859076	y	y	splicing	NETO1(NM_001201465:exon5:c.221-2A>C;NM_138966:exon5:c.221-2A>C;NM_138999:exon5:c.218-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon5:c.221-2A>C;ENST00000327305:exon5:c.221-2A>C;ENST00000299430:exon5:c.218-2A>C;ENST00000397929:exon5:c.218-2A>C;ENST00000579169:exon5:c.209-2A>C)	.	.	0.999989917668626	0.926
18	70526312	G	A	18	72859077	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.22321591105344	0.276
18	70526312	G	C	18	72859077	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999900740268725	0.95
18	70526312	G	T	18	72859077	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.983363013363279	0.67
18	70526313	T	A	18	72859078	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.30693976615041E-4	0.024
18	70526313	T	C	18	72859078	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.25244524353669E-5	0.008
18	70526313	T	G	18	72859078	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.20540222503835E-4	0.008
18	70526314	A	C	18	72859079	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00124097534308731	0.154
18	70526314	A	G	18	72859079	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.77408415791859E-4	0.014
18	70526314	A	T	18	72859079	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.6875465014924E-4	0.092
18	70526315	A	C	18	72859080	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00742009779044315	0.138
18	70526315	A	G	18	72859080	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.26241956351461E-4	0.004
18	70526315	A	T	18	72859080	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00359903764642403	0.162
18	70526316	A	C	18	72859081	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.06785856639617E-4	0.052
18	70526316	A	G	18	72859081	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.49436230794014E-5	0.0
18	70526316	A	T	18	72859081	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.39971731317689E-4	0.074
18	70526317	G	A	18	72859082	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.40285123409603E-4	0.01
18	70526317	G	C	18	72859082	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.95414557375793E-4	0.104
18	70526317	G	T	18	72859082	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00106049695544898	0.112
18	70526318	A	C	18	72859083	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.73995467975932E-5	0.078
18	70526318	A	G	18	72859083	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.43591591892286E-5	0.048
18	70526318	A	T	18	72859083	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.44501135177305E-5	0.15
18	70526319	A	C	18	72859084	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.42241848583951E-4	0.096
18	70526319	A	G	18	72859084	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.2683355272459E-5	0.004
18	70526319	A	T	18	72859084	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.14216259231709E-4	0.082
18	70526320	G	A	18	72859085	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.35603753804671E-5	0.0
18	70526320	G	C	18	72859085	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.07459592653673E-4	0.02
18	70526320	G	T	18	72859085	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.91991340744226E-4	0.03
18	70526321	A	C	18	72859086	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.9617699565686E-4	0.086
18	70526321	A	G	18	72859086	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.16448887345191E-4	0.018
18	70526321	A	T	18	72859086	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.54622776307077E-4	0.178
18	70532035	C	A	18	72864800	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.79335178565954E-4	0.014
18	70532035	C	G	18	72864800	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.35983907814219E-4	0.006
18	70532035	C	T	18	72864800	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.20088885083275E-4	0.026
18	70532036	C	A	18	72864801	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.51450907087873E-4	0.0
18	70532036	C	G	18	72864801	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.90470479693395E-5	0.0
18	70532036	C	T	18	72864801	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.6206377250688E-5	0.0
18	70532037	C	A	18	72864802	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.43065629716272E-5	0.0
18	70532037	C	G	18	72864802	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.72472328331557E-5	0.006
18	70532037	C	T	18	72864802	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.32069840411865E-5	0.008
18	70532038	C	A	18	72864803	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.964794478120866	0.496
18	70532038	C	G	18	72864803	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.853562271110428	0.52
18	70532038	C	T	18	72864803	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.960196468045989	0.534
18	70532039	T	A	18	72864804	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.117747682972447	0.216
18	70532039	T	C	18	72864804	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.657729446873199	0.356
18	70532039	T	G	18	72864804	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.163650487199976	0.256
18	70532040	T	A	18	72864805	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.962781313436757	0.43
18	70532040	T	C	18	72864805	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00271342238071183	0.128
18	70532040	T	G	18	72864805	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.979705495409489	0.524
18	70532041	A	C	18	72864806	y	y	splicing	NETO1(NM_001201465:exon4:c.220+2T>G;NM_138966:exon4:c.220+2T>G;NM_138999:exon4:c.217+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.220+2T>G;ENST00000327305:exon4:c.220+2T>G;ENST00000299430:exon4:c.217+2T>G;ENST00000397929:exon4:c.217+2T>G;ENST00000579169:exon4:c.208+2T>G)	.	.	0.999988247793601	0.93
18	70532041	A	G	18	72864806	y	y	splicing	NETO1(NM_001201465:exon4:c.220+2T>C;NM_138966:exon4:c.220+2T>C;NM_138999:exon4:c.217+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.220+2T>C;ENST00000327305:exon4:c.220+2T>C;ENST00000299430:exon4:c.217+2T>C;ENST00000397929:exon4:c.217+2T>C;ENST00000579169:exon4:c.208+2T>C)	.	.	0.995320650369382	0.69
18	70532041	A	T	18	72864806	y	y	splicing	NETO1(NM_001201465:exon4:c.220+2T>A;NM_138966:exon4:c.220+2T>A;NM_138999:exon4:c.217+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.220+2T>A;ENST00000327305:exon4:c.220+2T>A;ENST00000299430:exon4:c.217+2T>A;ENST00000397929:exon4:c.217+2T>A;ENST00000579169:exon4:c.208+2T>A)	.	.	0.999988247793601	0.93
18	70532042	C	A	18	72864807	y	y	splicing	NETO1(NM_001201465:exon4:c.220+1G>T;NM_138966:exon4:c.220+1G>T;NM_138999:exon4:c.217+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.220+1G>T;ENST00000327305:exon4:c.220+1G>T;ENST00000299430:exon4:c.217+1G>T;ENST00000397929:exon4:c.217+1G>T;ENST00000579169:exon4:c.208+1G>T)	.	.	0.999990361384395	0.938
18	70532042	C	G	18	72864807	y	y	splicing	NETO1(NM_001201465:exon4:c.220+1G>C;NM_138966:exon4:c.220+1G>C;NM_138999:exon4:c.217+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.220+1G>C;ENST00000327305:exon4:c.220+1G>C;ENST00000299430:exon4:c.217+1G>C;ENST00000397929:exon4:c.217+1G>C;ENST00000579169:exon4:c.208+1G>C)	.	.	0.999990361384395	0.938
18	70532042	C	T	18	72864807	y	y	splicing	NETO1(NM_001201465:exon4:c.220+1G>A;NM_138966:exon4:c.220+1G>A;NM_138999:exon4:c.217+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.220+1G>A;ENST00000327305:exon4:c.220+1G>A;ENST00000299430:exon4:c.217+1G>A;ENST00000397929:exon4:c.217+1G>A;ENST00000579169:exon4:c.208+1G>A)	.	.	0.999990361384395	0.938
18	70532043	C	A	18	72864808	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.G220T:p.A74S;NETO1:NM_138999:exon3:c.G217T:p.A73S;NETO1:NM_001201465:exon3:c.G220T:p.A74S;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.G208T:p.A70S;ENSG00000166342:ENST00000397929:exon3:c.G217T:p.A73S;ENSG00000166342:ENST00000299430:exon3:c.G217T:p.A73S;ENSG00000166342:ENST00000583169:exon3:c.G220T:p.A74S;ENSG00000166342:ENST00000327305:exon3:c.G220T:p.A74S;	0.999965940487197	0.952
18	70532043	C	G	18	72864808	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.G220C:p.A74P;NETO1:NM_138999:exon3:c.G217C:p.A73P;NETO1:NM_001201465:exon3:c.G220C:p.A74P;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.G208C:p.A70P;ENSG00000166342:ENST00000397929:exon3:c.G217C:p.A73P;ENSG00000166342:ENST00000299430:exon3:c.G217C:p.A73P;ENSG00000166342:ENST00000583169:exon3:c.G220C:p.A74P;ENSG00000166342:ENST00000327305:exon3:c.G220C:p.A74P;	0.99996531878379	0.95
18	70532043	C	T	18	72864808	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.G220A:p.A74T;NETO1:NM_138999:exon3:c.G217A:p.A73T;NETO1:NM_001201465:exon3:c.G220A:p.A74T;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.G208A:p.A70T;ENSG00000166342:ENST00000397929:exon3:c.G217A:p.A73T;ENSG00000166342:ENST00000299430:exon3:c.G217A:p.A73T;ENSG00000166342:ENST00000583169:exon3:c.G220A:p.A74T;ENSG00000166342:ENST00000327305:exon3:c.G220A:p.A74T;	0.999956325863009	0.998
18	70532044	T	A	18	72864809	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A219T:p.E73D;NETO1:NM_138999:exon3:c.A216T:p.E72D;NETO1:NM_001201465:exon3:c.A219T:p.E73D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A207T:p.E69D;ENSG00000166342:ENST00000397929:exon3:c.A216T:p.E72D;ENSG00000166342:ENST00000299430:exon3:c.A216T:p.E72D;ENSG00000166342:ENST00000583169:exon3:c.A219T:p.E73D;ENSG00000166342:ENST00000327305:exon3:c.A219T:p.E73D;	0.990961174092537	0.542
18	70532044	T	C	18	72864809	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon3:c.A219G:p.E73E;NETO1:NM_138999:exon3:c.A216G:p.E72E;NETO1:NM_001201465:exon3:c.A219G:p.E73E;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A207G:p.E69E;ENSG00000166342:ENST00000397929:exon3:c.A216G:p.E72E;ENSG00000166342:ENST00000299430:exon3:c.A216G:p.E72E;ENSG00000166342:ENST00000583169:exon3:c.A219G:p.E73E;ENSG00000166342:ENST00000327305:exon3:c.A219G:p.E73E;	0.992433396553538	0.932
18	70532044	T	G	18	72864809	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A219C:p.E73D;NETO1:NM_138999:exon3:c.A216C:p.E72D;NETO1:NM_001201465:exon3:c.A219C:p.E73D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A207C:p.E69D;ENSG00000166342:ENST00000397929:exon3:c.A216C:p.E72D;ENSG00000166342:ENST00000299430:exon3:c.A216C:p.E72D;ENSG00000166342:ENST00000583169:exon3:c.A219C:p.E73D;ENSG00000166342:ENST00000327305:exon3:c.A219C:p.E73D;	0.993302204852665	0.808
18	70532045	T	A	18	72864810	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A218T:p.E73V;NETO1:NM_138999:exon3:c.A215T:p.E72V;NETO1:NM_001201465:exon3:c.A218T:p.E73V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A206T:p.E69V;ENSG00000166342:ENST00000397929:exon3:c.A215T:p.E72V;ENSG00000166342:ENST00000299430:exon3:c.A215T:p.E72V;ENSG00000166342:ENST00000583169:exon3:c.A218T:p.E73V;ENSG00000166342:ENST00000327305:exon3:c.A218T:p.E73V;	0.968015368985883	0.684
18	70532045	T	C	18	72864810	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A218G:p.E73G;NETO1:NM_138999:exon3:c.A215G:p.E72G;NETO1:NM_001201465:exon3:c.A218G:p.E73G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A206G:p.E69G;ENSG00000166342:ENST00000397929:exon3:c.A215G:p.E72G;ENSG00000166342:ENST00000299430:exon3:c.A215G:p.E72G;ENSG00000166342:ENST00000583169:exon3:c.A218G:p.E73G;ENSG00000166342:ENST00000327305:exon3:c.A218G:p.E73G;	0.470691279968	0.494
18	70532045	T	G	18	72864810	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A218C:p.E73A;NETO1:NM_138999:exon3:c.A215C:p.E72A;NETO1:NM_001201465:exon3:c.A218C:p.E73A;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A206C:p.E69A;ENSG00000166342:ENST00000397929:exon3:c.A215C:p.E72A;ENSG00000166342:ENST00000299430:exon3:c.A215C:p.E72A;ENSG00000166342:ENST00000583169:exon3:c.A218C:p.E73A;ENSG00000166342:ENST00000327305:exon3:c.A218C:p.E73A;	0.827037196448626	0.706
18	70532179	T	A	18	72864944	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A84T:p.E28D;NETO1:NM_138999:exon3:c.A81T:p.E27D;NETO1:NM_001201465:exon3:c.A84T:p.E28D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A72T:p.E24D;ENSG00000166342:ENST00000397929:exon3:c.A81T:p.E27D;ENSG00000166342:ENST00000299430:exon3:c.A81T:p.E27D;ENSG00000166342:ENST00000583169:exon3:c.A84T:p.E28D;ENSG00000166342:ENST00000327305:exon3:c.A84T:p.E28D;	9.09050335685551E-5	0.018
18	70532179	T	C	18	72864944	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon3:c.A84G:p.E28E;NETO1:NM_138999:exon3:c.A81G:p.E27E;NETO1:NM_001201465:exon3:c.A84G:p.E28E;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A72G:p.E24E;ENSG00000166342:ENST00000397929:exon3:c.A81G:p.E27E;ENSG00000166342:ENST00000299430:exon3:c.A81G:p.E27E;ENSG00000166342:ENST00000583169:exon3:c.A84G:p.E28E;ENSG00000166342:ENST00000327305:exon3:c.A84G:p.E28E;	2.86342596150751E-4	0.016
18	70532179	T	G	18	72864944	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A84C:p.E28D;NETO1:NM_138999:exon3:c.A81C:p.E27D;NETO1:NM_001201465:exon3:c.A84C:p.E28D;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A72C:p.E24D;ENSG00000166342:ENST00000397929:exon3:c.A81C:p.E27D;ENSG00000166342:ENST00000299430:exon3:c.A81C:p.E27D;ENSG00000166342:ENST00000583169:exon3:c.A84C:p.E28D;ENSG00000166342:ENST00000327305:exon3:c.A84C:p.E28D;	6.87149946386532E-4	0.016
18	70532180	T	A	18	72864945	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A83T:p.E28V;NETO1:NM_138999:exon3:c.A80T:p.E27V;NETO1:NM_001201465:exon3:c.A83T:p.E28V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A71T:p.E24V;ENSG00000166342:ENST00000397929:exon3:c.A80T:p.E27V;ENSG00000166342:ENST00000299430:exon3:c.A80T:p.E27V;ENSG00000166342:ENST00000583169:exon3:c.A83T:p.E28V;ENSG00000166342:ENST00000327305:exon3:c.A83T:p.E28V;	0.366723474992184	0.582
18	70532180	T	C	18	72864945	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A83G:p.E28G;NETO1:NM_138999:exon3:c.A80G:p.E27G;NETO1:NM_001201465:exon3:c.A83G:p.E28G;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A71G:p.E24G;ENSG00000166342:ENST00000397929:exon3:c.A80G:p.E27G;ENSG00000166342:ENST00000299430:exon3:c.A80G:p.E27G;ENSG00000166342:ENST00000583169:exon3:c.A83G:p.E28G;ENSG00000166342:ENST00000327305:exon3:c.A83G:p.E28G;	0.0115340584044332	0.15
18	70532180	T	G	18	72864945	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon3:c.A83C:p.E28A;NETO1:NM_138999:exon3:c.A80C:p.E27A;NETO1:NM_001201465:exon3:c.A83C:p.E28A;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon3:c.A71C:p.E24A;ENSG00000166342:ENST00000397929:exon3:c.A80C:p.E27A;ENSG00000166342:ENST00000299430:exon3:c.A80C:p.E27A;ENSG00000166342:ENST00000583169:exon3:c.A83C:p.E28A;ENSG00000166342:ENST00000327305:exon3:c.A83C:p.E28A;	0.00949892071219536	0.158
18	70532181	C	A	18	72864946	y	y	splicing	NETO1(NM_001201465:exon4:c.83-1G>T;NM_138966:exon4:c.83-1G>T;NM_138999:exon4:c.80-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.83-1G>T;ENST00000327305:exon4:c.83-1G>T;ENST00000299430:exon4:c.80-1G>T;ENST00000397929:exon4:c.80-1G>T;ENST00000579169:exon4:c.71-1G>T)	.	.	0.999990361384395	0.89
18	70532181	C	G	18	72864946	y	y	splicing	NETO1(NM_001201465:exon4:c.83-1G>C;NM_138966:exon4:c.83-1G>C;NM_138999:exon4:c.80-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.83-1G>C;ENST00000327305:exon4:c.83-1G>C;ENST00000299430:exon4:c.80-1G>C;ENST00000397929:exon4:c.80-1G>C;ENST00000579169:exon4:c.71-1G>C)	.	.	0.999990361384395	0.938
18	70532181	C	T	18	72864946	y	y	splicing	NETO1(NM_001201465:exon4:c.83-1G>A;NM_138966:exon4:c.83-1G>A;NM_138999:exon4:c.80-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.83-1G>A;ENST00000327305:exon4:c.83-1G>A;ENST00000299430:exon4:c.80-1G>A;ENST00000397929:exon4:c.80-1G>A;ENST00000579169:exon4:c.71-1G>A)	.	.	0.999990361384395	0.936
18	70532182	T	A	18	72864947	y	y	splicing	NETO1(NM_001201465:exon4:c.83-2A>T;NM_138966:exon4:c.83-2A>T;NM_138999:exon4:c.80-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.83-2A>T;ENST00000327305:exon4:c.83-2A>T;ENST00000299430:exon4:c.80-2A>T;ENST00000397929:exon4:c.80-2A>T;ENST00000579169:exon4:c.71-2A>T)	.	.	0.999988247793601	0.928
18	70532182	T	C	18	72864947	y	y	splicing	NETO1(NM_001201465:exon4:c.83-2A>G;NM_138966:exon4:c.83-2A>G;NM_138999:exon4:c.80-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.83-2A>G;ENST00000327305:exon4:c.83-2A>G;ENST00000299430:exon4:c.80-2A>G;ENST00000397929:exon4:c.80-2A>G;ENST00000579169:exon4:c.71-2A>G)	.	.	0.999988247793601	0.928
18	70532182	T	G	18	72864947	y	y	splicing	NETO1(NM_001201465:exon4:c.83-2A>C;NM_138966:exon4:c.83-2A>C;NM_138999:exon4:c.80-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon4:c.83-2A>C;ENST00000327305:exon4:c.83-2A>C;ENST00000299430:exon4:c.80-2A>C;ENST00000397929:exon4:c.80-2A>C;ENST00000579169:exon4:c.71-2A>C)	.	.	0.999988247793601	0.928
18	70532183	G	A	18	72864948	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0806476656912588	0.184
18	70532183	G	C	18	72864948	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999800059182755	0.95
18	70532183	G	T	18	72864948	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.992475118944049	0.704
18	70532184	T	A	18	72864949	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.3946369491043E-4	0.004
18	70532184	T	C	18	72864949	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.40666443014754	0.584
18	70532184	T	G	18	72864949	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.77649709750954E-5	0.004
18	70532185	T	A	18	72864950	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.65828107153413E-5	0.0
18	70532185	T	C	18	72864950	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.81306252405722E-5	0.012
18	70532185	T	G	18	72864950	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	9.71989704579224E-6	0.0
18	70532186	A	C	18	72864951	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.78381365541573E-4	0.098
18	70532186	A	G	18	72864951	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	9.17942041308364E-5	0.136
18	70532186	A	T	18	72864951	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.71676208240588E-4	0.086
18	70532187	A	C	18	72864952	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.87210098262818E-4	0.016
18	70532187	A	G	18	72864952	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.26864324435865E-5	0.102
18	70532187	A	T	18	72864952	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.86465546290894E-4	0.278
18	70532188	A	C	18	72864953	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	9.03383533337761E-5	0.016
18	70532188	A	G	18	72864953	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.02563006296783E-5	0.002
18	70532188	A	T	18	72864953	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.10613418091883E-4	0.014
18	70532189	A	C	18	72864954	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.28457698091856E-4	0.03
18	70532189	A	G	18	72864954	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.24992947643054E-5	0.002
18	70532189	A	T	18	72864954	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	9.96918907060929E-5	0.054
18	70532190	A	C	18	72864955	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.9817057842224E-5	0.034
18	70532190	A	G	18	72864955	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	2.8447214922828E-5	0.0
18	70532190	A	T	18	72864955	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.29329557805612E-4	0.042
18	70532191	A	C	18	72864956	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.17403208392958E-5	0.062
18	70532191	A	G	18	72864956	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.65616627752171E-5	0.0
18	70532191	A	T	18	72864956	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.00125657474582E-4	0.036
18	70532192	A	C	18	72864957	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.47372941753359E-5	0.102
18	70532192	A	G	18	72864957	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.34459398022419E-5	0.004
18	70532192	A	T	18	72864957	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.00435552600243E-5	0.074
18	70532415	A	C	18	72865180	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00189611182769408	0.038
18	70532415	A	G	18	72865180	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00261998262681094	0.03
18	70532415	A	T	18	72865180	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.27554107245598E-4	0.022
18	70532416	A	C	18	72865181	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.62203047383427E-4	0.004
18	70532416	A	G	18	72865181	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.63186743028912E-4	0.004
18	70532416	A	T	18	72865181	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.63186743028912E-4	0.002
18	70532417	A	C	18	72865182	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.980755299452723	0.688
18	70532417	A	G	18	72865182	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.979615225260902	0.73
18	70532417	A	T	18	72865182	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.998404889324386	0.9
18	70532418	C	A	18	72865183	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999672365084047	0.87
18	70532418	C	G	18	72865183	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999660339201649	0.984
18	70532418	C	T	18	72865183	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999713810096025	0.962
18	70532419	A	C	18	72865184	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00484478411015199	0.152
18	70532419	A	G	18	72865184	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.130696992926175	0.346
18	70532419	A	T	18	72865184	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00161812438565547	0.078
18	70532420	C	A	18	72865185	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00261098125038168	0.294
18	70532420	C	G	18	72865185	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.129108103733272	0.292
18	70532420	C	T	18	72865185	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.3880339042449E-4	0.054
18	70532421	A	C	18	72865186	y	y	splicing	NETO1(NM_001201465:exon3:c.82+2T>G;NM_138966:exon3:c.82+2T>G;NM_138999:exon3:c.79+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.82+2T>G;ENST00000327305:exon3:c.82+2T>G;ENST00000299430:exon3:c.79+2T>G;ENST00000397929:exon3:c.79+2T>G;ENST00000579169:exon3:c.70+2T>G)	.	.	0.999988247793601	0.928
18	70532421	A	G	18	72865186	y	y	splicing	NETO1(NM_001201465:exon3:c.82+2T>C;NM_138966:exon3:c.82+2T>C;NM_138999:exon3:c.79+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.82+2T>C;ENST00000327305:exon3:c.82+2T>C;ENST00000299430:exon3:c.79+2T>C;ENST00000397929:exon3:c.79+2T>C;ENST00000579169:exon3:c.70+2T>C)	.	.	0.999945827492243	0.87
18	70532421	A	T	18	72865186	y	y	splicing	NETO1(NM_001201465:exon3:c.82+2T>A;NM_138966:exon3:c.82+2T>A;NM_138999:exon3:c.79+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.82+2T>A;ENST00000327305:exon3:c.82+2T>A;ENST00000299430:exon3:c.79+2T>A;ENST00000397929:exon3:c.79+2T>A;ENST00000579169:exon3:c.70+2T>A)	.	.	0.999988247793601	0.93
18	70532422	C	A	18	72865187	y	y	splicing	NETO1(NM_001201465:exon3:c.82+1G>T;NM_138966:exon3:c.82+1G>T;NM_138999:exon3:c.79+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.82+1G>T;ENST00000327305:exon3:c.82+1G>T;ENST00000299430:exon3:c.79+1G>T;ENST00000397929:exon3:c.79+1G>T;ENST00000579169:exon3:c.70+1G>T)	.	.	0.999990361384395	0.938
18	70532422	C	G	18	72865187	y	y	splicing	NETO1(NM_001201465:exon3:c.82+1G>C;NM_138966:exon3:c.82+1G>C;NM_138999:exon3:c.79+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.82+1G>C;ENST00000327305:exon3:c.82+1G>C;ENST00000299430:exon3:c.79+1G>C;ENST00000397929:exon3:c.79+1G>C;ENST00000579169:exon3:c.70+1G>C)	.	.	0.999990361384395	0.938
18	70532422	C	T	18	72865187	y	y	splicing	NETO1(NM_001201465:exon3:c.82+1G>A;NM_138966:exon3:c.82+1G>A;NM_138999:exon3:c.79+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.82+1G>A;ENST00000327305:exon3:c.82+1G>A;ENST00000299430:exon3:c.79+1G>A;ENST00000397929:exon3:c.79+1G>A;ENST00000579169:exon3:c.70+1G>A)	.	.	0.999990361384395	0.938
18	70532423	C	A	18	72865188	y	y	exonic	NETO1	stopgain SNV	NETO1:NM_138966:exon2:c.G82T:p.E28X;NETO1:NM_138999:exon2:c.G79T:p.E27X;NETO1:NM_001201465:exon2:c.G82T:p.E28X;	exonic	ENSG00000166342	stopgain SNV	ENSG00000166342:ENST00000579169:exon2:c.G70T:p.E24X;ENSG00000166342:ENST00000397929:exon2:c.G79T:p.E27X;ENSG00000166342:ENST00000299430:exon2:c.G79T:p.E27X;ENSG00000166342:ENST00000583169:exon2:c.G82T:p.E28X;ENSG00000166342:ENST00000327305:exon2:c.G82T:p.E28X;	0.999988921125405	0.99
18	70532423	C	G	18	72865188	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.G82C:p.E28Q;NETO1:NM_138999:exon2:c.G79C:p.E27Q;NETO1:NM_001201465:exon2:c.G82C:p.E28Q;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.G70C:p.E24Q;ENSG00000166342:ENST00000397929:exon2:c.G79C:p.E27Q;ENSG00000166342:ENST00000299430:exon2:c.G79C:p.E27Q;ENSG00000166342:ENST00000583169:exon2:c.G82C:p.E28Q;ENSG00000166342:ENST00000327305:exon2:c.G82C:p.E28Q;	0.999998174063421	0.986
18	70532423	C	T	18	72865188	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.G82A:p.E28K;NETO1:NM_138999:exon2:c.G79A:p.E27K;NETO1:NM_001201465:exon2:c.G82A:p.E28K;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.G70A:p.E24K;ENSG00000166342:ENST00000397929:exon2:c.G79A:p.E27K;ENSG00000166342:ENST00000299430:exon2:c.G79A:p.E27K;ENSG00000166342:ENST00000583169:exon2:c.G82A:p.E28K;ENSG00000166342:ENST00000327305:exon2:c.G82A:p.E28K;	0.999987351996037	0.986
18	70532424	T	A	18	72865189	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon2:c.A81T:p.T27T;NETO1:NM_138999:exon2:c.A78T:p.T26T;NETO1:NM_001201465:exon2:c.A81T:p.T27T;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.A69T:p.T23T;ENSG00000166342:ENST00000397929:exon2:c.A78T:p.T26T;ENSG00000166342:ENST00000299430:exon2:c.A78T:p.T26T;ENSG00000166342:ENST00000583169:exon2:c.A81T:p.T27T;ENSG00000166342:ENST00000327305:exon2:c.A81T:p.T27T;	0.999807808660679	0.996
18	70532424	T	C	18	72865189	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon2:c.A81G:p.T27T;NETO1:NM_138999:exon2:c.A78G:p.T26T;NETO1:NM_001201465:exon2:c.A81G:p.T27T;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.A69G:p.T23T;ENSG00000166342:ENST00000397929:exon2:c.A78G:p.T26T;ENSG00000166342:ENST00000299430:exon2:c.A78G:p.T26T;ENSG00000166342:ENST00000583169:exon2:c.A81G:p.T27T;ENSG00000166342:ENST00000327305:exon2:c.A81G:p.T27T;	0.999813546352996	0.996
18	70532424	T	G	18	72865189	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon2:c.A81C:p.T27T;NETO1:NM_138999:exon2:c.A78C:p.T26T;NETO1:NM_001201465:exon2:c.A81C:p.T27T;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.A69C:p.T23T;ENSG00000166342:ENST00000397929:exon2:c.A78C:p.T26T;ENSG00000166342:ENST00000299430:exon2:c.A78C:p.T26T;ENSG00000166342:ENST00000583169:exon2:c.A81C:p.T27T;ENSG00000166342:ENST00000327305:exon2:c.A81C:p.T27T;	0.999567064831696	0.978
18	70532425	G	A	18	72865190	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.C80T:p.T27I;NETO1:NM_138999:exon2:c.C77T:p.T26I;NETO1:NM_001201465:exon2:c.C80T:p.T27I;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.C68T:p.T23I;ENSG00000166342:ENST00000397929:exon2:c.C77T:p.T26I;ENSG00000166342:ENST00000299430:exon2:c.C77T:p.T26I;ENSG00000166342:ENST00000583169:exon2:c.C80T:p.T27I;ENSG00000166342:ENST00000327305:exon2:c.C80T:p.T27I;	0.9979050727756	0.726
18	70532425	G	C	18	72865190	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.C80G:p.T27R;NETO1:NM_138999:exon2:c.C77G:p.T26R;NETO1:NM_001201465:exon2:c.C80G:p.T27R;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.C68G:p.T23R;ENSG00000166342:ENST00000397929:exon2:c.C77G:p.T26R;ENSG00000166342:ENST00000299430:exon2:c.C77G:p.T26R;ENSG00000166342:ENST00000583169:exon2:c.C80G:p.T27R;ENSG00000166342:ENST00000327305:exon2:c.C80G:p.T27R;	0.0267697851944087	0.208
18	70532425	G	T	18	72865190	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.C80A:p.T27K;NETO1:NM_138999:exon2:c.C77A:p.T26K;NETO1:NM_001201465:exon2:c.C80A:p.T27K;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.C68A:p.T23K;ENSG00000166342:ENST00000397929:exon2:c.C77A:p.T26K;ENSG00000166342:ENST00000299430:exon2:c.C77A:p.T26K;ENSG00000166342:ENST00000583169:exon2:c.C80A:p.T27K;ENSG00000166342:ENST00000327305:exon2:c.C80A:p.T27K;	0.00145078716888053	0.15
18	70532475	A	C	18	72865240	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.T30G:p.I10M;NETO1:NM_001201465:exon2:c.T30G:p.I10M;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.T18G:p.F6L;ENSG00000166342:ENST00000583169:exon2:c.T30G:p.I10M;ENSG00000166342:ENST00000327305:exon2:c.T30G:p.I10M;	0.32010911274477	0.398
18	70532475	A	G	18	72865240	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon2:c.T30C:p.I10I;NETO1:NM_138999:exon2:c.T27C:p.V9V;NETO1:NM_001201465:exon2:c.T30C:p.I10I;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.T18C:p.F6F;ENSG00000166342:ENST00000397929:exon2:c.T27C:p.V9V;ENSG00000166342:ENST00000299430:exon2:c.T27C:p.V9V;ENSG00000166342:ENST00000583169:exon2:c.T30C:p.I10I;ENSG00000166342:ENST00000327305:exon2:c.T30C:p.I10I;	0.679781597997258	0.478
18	70532475	A	T	18	72865240	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon2:c.T30A:p.I10I;NETO1:NM_138999:exon2:c.T27A:p.V9V;NETO1:NM_001201465:exon2:c.T30A:p.I10I;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.T18A:p.F6L;	0.247528569775949	0.416
18	70532476	A	C	18	72865241	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.T29G:p.I10S;NETO1:NM_138999:exon2:c.T26G:p.V9G;NETO1:NM_001201465:exon2:c.T29G:p.I10S;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.T17G:p.F6C;ENSG00000166342:ENST00000397929:exon2:c.T26G:p.V9G;ENSG00000166342:ENST00000299430:exon2:c.T26G:p.V9G;ENSG00000166342:ENST00000583169:exon2:c.T29G:p.I10S;ENSG00000166342:ENST00000327305:exon2:c.T29G:p.I10S;	0.767931738310799	0.654
18	70532476	A	G	18	72865241	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.T29C:p.I10T;NETO1:NM_138999:exon2:c.T26C:p.V9A;NETO1:NM_001201465:exon2:c.T29C:p.I10T;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.T17C:p.F6S;ENSG00000166342:ENST00000397929:exon2:c.T26C:p.V9A;ENSG00000166342:ENST00000299430:exon2:c.T26C:p.V9A;ENSG00000166342:ENST00000583169:exon2:c.T29C:p.I10T;ENSG00000166342:ENST00000327305:exon2:c.T29C:p.I10T;	0.924045802048319	0.632
18	70532476	A	T	18	72865241	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon2:c.T29A:p.I10N;NETO1:NM_138999:exon2:c.T26A:p.V9D;NETO1:NM_001201465:exon2:c.T29A:p.I10N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon2:c.T17A:p.F6Y;ENSG00000166342:ENST00000397929:exon2:c.T26A:p.V9D;ENSG00000166342:ENST00000299430:exon2:c.T26A:p.V9D;ENSG00000166342:ENST00000583169:exon2:c.T29A:p.I10N;ENSG00000166342:ENST00000327305:exon2:c.T29A:p.I10N;	0.701500988212742	0.694
18	70532477	C	A	18	72865242	y	y	splicing	NETO1(NM_001201465:exon3:c.29-1G>T;NM_138966:exon3:c.29-1G>T;NM_138999:exon3:c.26-1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.29-1G>T;ENST00000327305:exon3:c.29-1G>T;ENST00000299430:exon3:c.26-1G>T;ENST00000397929:exon3:c.26-1G>T;ENST00000579169:exon3:c.17-1G>T)	.	.	0.999990361384395	0.938
18	70532477	C	G	18	72865242	y	y	splicing	NETO1(NM_001201465:exon3:c.29-1G>C;NM_138966:exon3:c.29-1G>C;NM_138999:exon3:c.26-1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.29-1G>C;ENST00000327305:exon3:c.29-1G>C;ENST00000299430:exon3:c.26-1G>C;ENST00000397929:exon3:c.26-1G>C;ENST00000579169:exon3:c.17-1G>C)	.	.	0.999990361384395	0.938
18	70532477	C	T	18	72865242	y	y	splicing	NETO1(NM_001201465:exon3:c.29-1G>A;NM_138966:exon3:c.29-1G>A;NM_138999:exon3:c.26-1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.29-1G>A;ENST00000327305:exon3:c.29-1G>A;ENST00000299430:exon3:c.26-1G>A;ENST00000397929:exon3:c.26-1G>A;ENST00000579169:exon3:c.17-1G>A)	.	.	0.999990361384395	0.938
18	70532478	T	A	18	72865243	y	y	splicing	NETO1(NM_001201465:exon3:c.29-2A>T;NM_138966:exon3:c.29-2A>T;NM_138999:exon3:c.26-2A>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.29-2A>T;ENST00000327305:exon3:c.29-2A>T;ENST00000299430:exon3:c.26-2A>T;ENST00000397929:exon3:c.26-2A>T;ENST00000579169:exon3:c.17-2A>T)	.	.	0.999988247793601	0.928
18	70532478	T	C	18	72865243	y	y	splicing	NETO1(NM_001201465:exon3:c.29-2A>G;NM_138966:exon3:c.29-2A>G;NM_138999:exon3:c.26-2A>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.29-2A>G;ENST00000327305:exon3:c.29-2A>G;ENST00000299430:exon3:c.26-2A>G;ENST00000397929:exon3:c.26-2A>G;ENST00000579169:exon3:c.17-2A>G)	.	.	0.999988247793601	0.928
18	70532478	T	G	18	72865243	y	y	splicing	NETO1(NM_001201465:exon3:c.29-2A>C;NM_138966:exon3:c.29-2A>C;NM_138999:exon3:c.26-2A>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon3:c.29-2A>C;ENST00000327305:exon3:c.29-2A>C;ENST00000299430:exon3:c.26-2A>C;ENST00000397929:exon3:c.26-2A>C;ENST00000579169:exon3:c.17-2A>C)	.	.	0.999988247793601	0.928
18	70532479	G	A	18	72865244	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.995428716371668	0.424
18	70532479	G	C	18	72865244	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999946677324354	0.976
18	70532479	G	T	18	72865244	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999828053244878	0.952
18	70532480	A	C	18	72865245	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.74374245400769E-4	0.012
18	70532480	A	G	18	72865245	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.10093131843164E-4	0.002
18	70532480	A	T	18	72865245	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.23203677062503E-4	0.008
18	70532481	A	C	18	72865246	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.978684939486965	0.756
18	70532481	A	G	18	72865246	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.627029438326105	0.608
18	70532481	A	T	18	72865246	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.989500687930951	0.732
18	70532482	A	C	18	72865247	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0540398434277541	0.222
18	70532482	A	G	18	72865247	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00344889121301094	0.156
18	70532482	A	T	18	72865247	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.205270850954006	0.276
18	70532483	C	A	18	72865248	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.49305182251644E-5	0.0
18	70532483	C	G	18	72865248	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.38080128907106E-4	0.002
18	70532483	C	T	18	72865248	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.55686442278269E-4	0.028
18	70532484	A	C	18	72865249	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.181724887688571	0.376
18	70532484	A	G	18	72865249	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0115398680163721	0.23
18	70532484	A	T	18	72865249	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999758758437487	0.946
18	70532485	G	A	18	72865250	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.95639561358934	0.786
18	70532485	G	C	18	72865250	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.965144698551831	0.76
18	70532485	G	T	18	72865250	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.973410673340974	0.732
18	70532486	A	C	18	72865251	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0479847976593612	0.266
18	70532486	A	G	18	72865251	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00348885535567783	0.082
18	70532486	A	T	18	72865251	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0979011199745125	0.376
18	70532487	A	C	18	72865252	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.968063340727657	0.7
18	70532487	A	G	18	72865252	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.827048563820023	0.566
18	70532487	A	T	18	72865252	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.987314310695854	0.808
18	70532488	A	C	18	72865253	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00787398220213797	0.146
18	70532488	A	G	18	72865253	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00352896140772487	0.084
18	70532488	A	T	18	72865253	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0171753642225909	0.146
18	70532800	T	A	18	72865565	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.01315188657279E-5	0.002
18	70532800	T	C	18	72865565	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.35428655471156E-5	0.002
18	70532800	T	G	18	72865565	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.35428655471156E-5	0.002
18	70532801	A	C	18	72865566	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.35428655471156E-5	0.002
18	70532801	A	G	18	72865566	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.35428655471156E-5	0.002
18	70532801	A	T	18	72865566	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.35428655471156E-5	0.002
18	70532802	A	C	18	72865567	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.12581597765867E-4	0.0
18	70532802	A	G	18	72865567	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.12581597765867E-4	0.002
18	70532802	A	T	18	72865567	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.12581597765867E-4	0.0
18	70532803	A	C	18	72865568	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.06444635118673E-4	0.002
18	70532803	A	G	18	72865568	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.06444635118673E-4	0.0
18	70532803	A	T	18	72865568	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.06444635118673E-4	0.0
18	70532804	C	A	18	72865569	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.24453633365032E-5	0.0
18	70532804	C	G	18	72865569	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.24453633365032E-5	0.0
18	70532804	C	T	18	72865569	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.05918261028706E-4	0.0
18	70532805	T	A	18	72865570	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.01212398005583E-5	0.002
18	70532805	T	C	18	72865570	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.86764315709017E-5	0.0
18	70532805	T	G	18	72865570	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.86764315709017E-5	0.0
18	70532806	A	C	18	72865571	y	y	splicing	NETO1(NM_138999:exon2:c.25+2T>G)	.	.	splicing	ENSG00000166342(ENST00000299430:exon2:c.25+2T>G;ENST00000397929:exon2:c.25+2T>G)	.	.	1.35379928190213E-5	0.002
18	70532806	A	G	18	72865571	y	y	splicing	NETO1(NM_138999:exon2:c.25+2T>C)	.	.	splicing	ENSG00000166342(ENST00000299430:exon2:c.25+2T>C;ENST00000397929:exon2:c.25+2T>C)	.	.	1.35379928190213E-5	0.002
18	70532806	A	T	18	72865571	y	y	splicing	NETO1(NM_138999:exon2:c.25+2T>A)	.	.	splicing	ENSG00000166342(ENST00000299430:exon2:c.25+2T>A;ENST00000397929:exon2:c.25+2T>A)	.	.	1.35379928190213E-5	0.002
18	70532807	C	A	18	72865572	y	y	splicing	NETO1(NM_138999:exon2:c.25+1G>T)	.	.	splicing	ENSG00000166342(ENST00000299430:exon2:c.25+1G>T;ENST00000397929:exon2:c.25+1G>T)	.	.	1.00675832680685E-4	0.0
18	70532807	C	G	18	72865572	y	y	splicing	NETO1(NM_138999:exon2:c.25+1G>C)	.	.	splicing	ENSG00000166342(ENST00000299430:exon2:c.25+1G>C;ENST00000397929:exon2:c.25+1G>C)	.	.	1.00675832680685E-4	0.002
18	70532807	C	T	18	72865572	y	y	splicing	NETO1(NM_138999:exon2:c.25+1G>A)	.	.	splicing	ENSG00000166342(ENST00000299430:exon2:c.25+1G>A;ENST00000397929:exon2:c.25+1G>A)	.	.	1.00675832680685E-4	0.002
18	70532808	C	A	18	72865573	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon1:c.G25T:p.V9F;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.G25T:p.V9F;ENSG00000166342:ENST00000299430:exon1:c.G25T:p.V9F;	1.68064744519395E-4	0.008
18	70532808	C	G	18	72865573	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon1:c.G25C:p.V9L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.G25C:p.V9L;ENSG00000166342:ENST00000299430:exon1:c.G25C:p.V9L;	2.44595403009894E-4	0.022
18	70532808	C	T	18	72865573	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon1:c.G25A:p.V9I;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.G25A:p.V9I;ENSG00000166342:ENST00000299430:exon1:c.G25A:p.V9I;	1.24425137694629E-4	0.0
18	70532809	C	A	18	72865574	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon1:c.G24T:p.K8N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.G24T:p.K8N;ENSG00000166342:ENST00000299430:exon1:c.G24T:p.K8N;	1.48774368876284E-4	0.012
18	70532809	C	G	18	72865574	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon1:c.G24C:p.K8N;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.G24C:p.K8N;ENSG00000166342:ENST00000299430:exon1:c.G24C:p.K8N;	1.35607693323837E-4	0.014
18	70532809	C	T	18	72865574	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138999:exon1:c.G24A:p.K8K;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.G24A:p.K8K;ENSG00000166342:ENST00000299430:exon1:c.G24A:p.K8K;	1.41423800792766E-4	0.006
18	70532810	T	A	18	72865575	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon1:c.A23T:p.K8M;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.A23T:p.K8M;ENSG00000166342:ENST00000299430:exon1:c.A23T:p.K8M;	1.45770038015022E-4	0.0
18	70532810	T	C	18	72865575	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon1:c.A23G:p.K8R;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.A23G:p.K8R;ENSG00000166342:ENST00000299430:exon1:c.A23G:p.K8R;	6.99263190704948E-5	0.0
18	70532810	T	G	18	72865575	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138999:exon1:c.A23C:p.K8T;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000397929:exon1:c.A23C:p.K8T;ENSG00000166342:ENST00000299430:exon1:c.A23C:p.K8T;	1.35462544897784E-4	0.012
18	70533971	T	A	18	72866736	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	8.50861351865397E-5	0.0
18	70533971	T	C	18	72866736	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.68140984436469E-5	0.0
18	70533971	T	G	18	72866736	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.68140984436469E-5	0.0
18	70533972	A	C	18	72866737	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.01315188657279E-5	0.002
18	70533972	A	G	18	72866737	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.01315188657279E-5	0.002
18	70533972	A	T	18	72866737	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.01315188657279E-5	0.002
18	70533973	C	A	18	72866738	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.22800136258938E-5	0.038
18	70533973	C	G	18	72866738	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.22800136258938E-5	0.038
18	70533973	C	T	18	72866738	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.22800136258938E-5	0.036
18	70533974	C	A	18	72866739	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00202078155222512	0.012
18	70533974	C	G	18	72866739	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00153444947484302	0.012
18	70533974	C	T	18	72866739	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.0026340651284935	0.014
18	70533975	A	C	18	72866740	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.19523722086209E-5	0.0
18	70533975	A	G	18	72866740	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	4.19523722086209E-5	0.0
18	70533975	A	T	18	72866740	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.12581597765867E-4	0.0
18	70533976	C	A	18	72866741	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.5908222467397E-5	0.004
18	70533976	C	G	18	72866741	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	3.88563338073588E-5	0.002
18	70533976	C	T	18	72866741	n	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.5908222467397E-5	0.002
18	70533977	A	C	18	72866742	n	y	intronic	NETO1	.	.	splicing	ENSG00000166342(ENST00000579169:exon2:c.16+2T>G)	.	.	8.07028132666917E-5	0.004
18	70533977	A	G	18	72866742	n	y	intronic	NETO1	.	.	splicing	ENSG00000166342(ENST00000579169:exon2:c.16+2T>C)	.	.	8.07028132666917E-5	0.004
18	70533977	A	T	18	72866742	n	y	intronic	NETO1	.	.	splicing	ENSG00000166342(ENST00000579169:exon2:c.16+2T>A)	.	.	8.07028132666917E-5	0.006
18	70533978	C	A	18	72866743	n	y	intronic	NETO1	.	.	splicing	ENSG00000166342(ENST00000579169:exon2:c.16+1G>T)	.	.	1.71203364201335E-4	0.11
18	70533978	C	G	18	72866743	n	y	intronic	NETO1	.	.	splicing	ENSG00000166342(ENST00000579169:exon2:c.16+1G>C)	.	.	2.13916361261122E-4	0.11
18	70533978	C	T	18	72866743	n	y	intronic	NETO1	.	.	splicing	ENSG00000166342(ENST00000579169:exon2:c.16+1G>A)	.	.	1.71203364201335E-4	0.11
18	70533979	A	C	18	72866744	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.T16G:p.F6V;	7.75684941161229E-5	0.002
18	70533979	A	G	18	72866744	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.T16C:p.F6L;	4.35480018914068E-5	0.0
18	70533979	A	T	18	72866744	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.T16A:p.F6I;	5.63534827835342E-5	0.0
18	70533980	C	A	18	72866745	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.G15T:p.G5G;	1.10853470952722E-4	0.03
18	70533980	C	G	18	72866745	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.G15C:p.G5G;	6.39826558468951E-5	0.01
18	70533980	C	T	18	72866745	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.G15A:p.G5G;	1.10853470952722E-4	0.01
18	70533981	C	A	18	72866746	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.G14T:p.G5V;	1.40940918270023E-4	0.0
18	70533981	C	G	18	72866746	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.G14C:p.G5A;	1.63995423123284E-4	0.008
18	70533981	C	T	18	72866746	n	y	intronic	NETO1	.	.	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000579169:exon1:c.G14A:p.G5E;	1.61228075999277E-4	0.002
18	70534491	G	A	18	72867256	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00573537534991967	0.01
18	70534491	G	C	18	72867256	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	7.90927074828958E-4	0.0
18	70534491	G	T	18	72867256	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	5.54250962230854E-4	0.022
18	70534492	T	A	18	72867257	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	1.71851009208362E-4	0.01
18	70534492	T	C	18	72867257	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.3082617319075E-4	0.008
18	70534492	T	G	18	72867257	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	6.3082617319075E-4	0.008
18	70534493	A	C	18	72867258	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.99252482304677	0.836
18	70534493	A	G	18	72867258	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.996198466490475	0.918
18	70534493	A	T	18	72867258	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.990637709066638	0.79
18	70534494	C	A	18	72867259	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999961683219096	0.994
18	70534494	C	G	18	72867259	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999979670514954	0.978
18	70534494	C	T	18	72867259	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999972511134408	0.972
18	70534495	T	A	18	72867260	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999711163074919	0.94
18	70534495	T	C	18	72867260	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999417674176391	0.982
18	70534495	T	G	18	72867260	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999046283305285	0.888
18	70534496	C	A	18	72867261	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.99308792509172	0.762
18	70534496	C	G	18	72867261	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.999313014761191	0.77
18	70534496	C	T	18	72867261	y	y	intronic	NETO1	.	.	intronic	ENSG00000166342	.	.	0.00125918639762421	0.012
18	70534497	A	C	18	72867262	y	y	splicing	NETO1(NM_001201465:exon2:c.28+2T>G;NM_138966:exon2:c.28+2T>G)	.	.	splicing	ENSG00000166342(ENST00000583169:exon2:c.28+2T>G;ENST00000327305:exon2:c.28+2T>G)	.	.	0.999949366401994	0.89
18	70534497	A	G	18	72867262	y	y	splicing	NETO1(NM_001201465:exon2:c.28+2T>C;NM_138966:exon2:c.28+2T>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon2:c.28+2T>C;ENST00000327305:exon2:c.28+2T>C)	.	.	0.999839917605961	0.868
18	70534497	A	T	18	72867262	y	y	splicing	NETO1(NM_001201465:exon2:c.28+2T>A;NM_138966:exon2:c.28+2T>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon2:c.28+2T>A;ENST00000327305:exon2:c.28+2T>A)	.	.	0.999949366401994	0.89
18	70534498	C	A	18	72867263	y	y	splicing	NETO1(NM_001201465:exon2:c.28+1G>T;NM_138966:exon2:c.28+1G>T)	.	.	splicing	ENSG00000166342(ENST00000583169:exon2:c.28+1G>T;ENST00000327305:exon2:c.28+1G>T)	.	.	0.999988247793601	0.922
18	70534498	C	G	18	72867263	y	y	splicing	NETO1(NM_001201465:exon2:c.28+1G>C;NM_138966:exon2:c.28+1G>C)	.	.	splicing	ENSG00000166342(ENST00000583169:exon2:c.28+1G>C;ENST00000327305:exon2:c.28+1G>C)	.	.	0.999978952611685	0.924
18	70534498	C	T	18	72867263	y	y	splicing	NETO1(NM_001201465:exon2:c.28+1G>A;NM_138966:exon2:c.28+1G>A)	.	.	splicing	ENSG00000166342(ENST00000583169:exon2:c.28+1G>A;ENST00000327305:exon2:c.28+1G>A)	.	.	0.999988247793601	0.922
18	70534499	T	A	18	72867264	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon1:c.A28T:p.I10F;NETO1:NM_001201465:exon1:c.A28T:p.I10F;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.A28T:p.I10F;ENSG00000166342:ENST00000327305:exon1:c.A28T:p.I10F;	0.311669110035201	0.376
18	70534499	T	C	18	72867264	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon1:c.A28G:p.I10V;NETO1:NM_001201465:exon1:c.A28G:p.I10V;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.A28G:p.I10V;ENSG00000166342:ENST00000327305:exon1:c.A28G:p.I10V;	0.00177376475198593	0.216
18	70534499	T	G	18	72867264	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon1:c.A28C:p.I10L;NETO1:NM_001201465:exon1:c.A28C:p.I10L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.A28C:p.I10L;ENSG00000166342:ENST00000327305:exon1:c.A28C:p.I10L;	0.00916405375622903	0.202
18	70534500	G	A	18	72867265	y	y	exonic	NETO1	synonymous SNV	NETO1:NM_138966:exon1:c.C27T:p.H9H;NETO1:NM_001201465:exon1:c.C27T:p.H9H;	exonic	ENSG00000166342	synonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.C27T:p.H9H;ENSG00000166342:ENST00000327305:exon1:c.C27T:p.H9H;	0.172005930074678	0.4
18	70534500	G	C	18	72867265	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon1:c.C27G:p.H9Q;NETO1:NM_001201465:exon1:c.C27G:p.H9Q;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.C27G:p.H9Q;ENSG00000166342:ENST00000327305:exon1:c.C27G:p.H9Q;	0.191973961327884	0.372
18	70534500	G	T	18	72867265	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon1:c.C27A:p.H9Q;NETO1:NM_001201465:exon1:c.C27A:p.H9Q;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.C27A:p.H9Q;ENSG00000166342:ENST00000327305:exon1:c.C27A:p.H9Q;	0.0376529807983843	0.236
18	70534501	T	A	18	72867266	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon1:c.A26T:p.H9L;NETO1:NM_001201465:exon1:c.A26T:p.H9L;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.A26T:p.H9L;ENSG00000166342:ENST00000327305:exon1:c.A26T:p.H9L;	0.00113242302834881	0.124
18	70534501	T	C	18	72867266	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon1:c.A26G:p.H9R;NETO1:NM_001201465:exon1:c.A26G:p.H9R;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.A26G:p.H9R;ENSG00000166342:ENST00000327305:exon1:c.A26G:p.H9R;	3.05629831074939E-4	0.024
18	70534501	T	G	18	72867266	y	y	exonic	NETO1	nonsynonymous SNV	NETO1:NM_138966:exon1:c.A26C:p.H9P;NETO1:NM_001201465:exon1:c.A26C:p.H9P;	exonic	ENSG00000166342	nonsynonymous SNV	ENSG00000166342:ENST00000583169:exon1:c.A26C:p.H9P;ENSG00000166342:ENST00000327305:exon1:c.A26C:p.H9P;	1.99998954663697E-4	0.008
18	71740964	C	A	18	74073729	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon10:c.G1037T:p.S346I;FBXO15:NM_001142958:exon10:c.G1265T:p.S422I;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon10:c.G1265T:p.S422I;ENSG00000141665:ENST00000269500:exon10:c.G1037T:p.S346I;	0.00232833431761025	0.068
18	71740964	C	G	18	74073729	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon10:c.G1037C:p.S346T;FBXO15:NM_001142958:exon10:c.G1265C:p.S422T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon10:c.G1265C:p.S422T;ENSG00000141665:ENST00000269500:exon10:c.G1037C:p.S346T;	1.64970530809875E-4	0.0
18	71740964	C	T	18	74073729	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon10:c.G1037A:p.S346N;FBXO15:NM_001142958:exon10:c.G1265A:p.S422N;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon10:c.G1265A:p.S422N;ENSG00000141665:ENST00000269500:exon10:c.G1037A:p.S346N;	2.77675204822846E-5	0.034
18	71740965	T	A	18	74073730	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon10:c.A1036T:p.S346C;FBXO15:NM_001142958:exon10:c.A1264T:p.S422C;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon10:c.A1264T:p.S422C;ENSG00000141665:ENST00000269500:exon10:c.A1036T:p.S346C;	0.0477518218658725	0.118
18	71740965	T	C	18	74073730	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon10:c.A1036G:p.S346G;FBXO15:NM_001142958:exon10:c.A1264G:p.S422G;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon10:c.A1264G:p.S422G;ENSG00000141665:ENST00000269500:exon10:c.A1036G:p.S346G;	2.20873462606069E-4	0.0
18	71740965	T	G	18	74073730	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon10:c.A1036C:p.S346R;FBXO15:NM_001142958:exon10:c.A1264C:p.S422R;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon10:c.A1264C:p.S422R;ENSG00000141665:ENST00000269500:exon10:c.A1036C:p.S346R;	0.00126408891886843	0.07
18	71740966	C	A	18	74073731	y	y	splicing	FBXO15(NM_001142958:exon11:c.1264-1G>T;NM_152676:exon11:c.1036-1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon11:c.1036-1G>T;ENST00000583443:exon11:c.1393-1G>T;ENST00000419743:exon11:c.1264-1G>T;ENST00000581214:exon11:c.1228-1G>T;ENST00000578399:exon7:c.550-1G>T)	.	.	0.99995586615188	0.946
18	71740966	C	G	18	74073731	y	y	splicing	FBXO15(NM_001142958:exon11:c.1264-1G>C;NM_152676:exon11:c.1036-1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon11:c.1036-1G>C;ENST00000583443:exon11:c.1393-1G>C;ENST00000419743:exon11:c.1264-1G>C;ENST00000581214:exon11:c.1228-1G>C;ENST00000578399:exon7:c.550-1G>C)	.	.	0.99995586615188	0.932
18	71740966	C	T	18	74073731	y	y	splicing	FBXO15(NM_001142958:exon11:c.1264-1G>A;NM_152676:exon11:c.1036-1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon11:c.1036-1G>A;ENST00000583443:exon11:c.1393-1G>A;ENST00000419743:exon11:c.1264-1G>A;ENST00000581214:exon11:c.1228-1G>A;ENST00000578399:exon7:c.550-1G>A)	.	.	0.99995586615188	0.948
18	71740967	T	A	18	74073732	y	y	splicing	FBXO15(NM_001142958:exon11:c.1264-2A>T;NM_152676:exon11:c.1036-2A>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon11:c.1036-2A>T;ENST00000583443:exon11:c.1393-2A>T;ENST00000419743:exon11:c.1264-2A>T;ENST00000581214:exon11:c.1228-2A>T;ENST00000578399:exon7:c.550-2A>T)	.	.	0.999946188727699	0.946
18	71740967	T	C	18	74073732	y	y	splicing	FBXO15(NM_001142958:exon11:c.1264-2A>G;NM_152676:exon11:c.1036-2A>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon11:c.1036-2A>G;ENST00000583443:exon11:c.1393-2A>G;ENST00000419743:exon11:c.1264-2A>G;ENST00000581214:exon11:c.1228-2A>G;ENST00000578399:exon7:c.550-2A>G)	.	.	0.999964896440643	0.938
18	71740967	T	G	18	74073732	y	y	splicing	FBXO15(NM_001142958:exon11:c.1264-2A>C;NM_152676:exon11:c.1036-2A>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon11:c.1036-2A>C;ENST00000583443:exon11:c.1393-2A>C;ENST00000419743:exon11:c.1264-2A>C;ENST00000581214:exon11:c.1228-2A>C;ENST00000578399:exon7:c.550-2A>C)	.	.	0.999964896440643	0.938
18	71740968	G	A	18	74073733	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.880006980823E-4	0.014
18	71740968	G	C	18	74073733	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.998523292694461	0.852
18	71740968	G	T	18	74073733	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.702308977262598	0.53
18	71740969	C	A	18	74073734	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.16136467092454E-5	0.002
18	71740969	C	G	18	74073734	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.78958630425553E-5	0.028
18	71740969	C	T	18	74073734	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.16316534475524E-5	0.016
18	71740970	A	C	18	74073735	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.874157196175386	0.42
18	71740970	A	G	18	74073735	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.90170593161226E-5	0.006
18	71740970	A	T	18	74073735	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999826536120631	0.946
18	71740971	A	C	18	74073736	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0181913637311303	0.326
18	71740971	A	G	18	74073736	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.72087694035537E-5	0.02
18	71740971	A	T	18	74073736	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0645907132210808	0.354
18	71740972	A	C	18	74073737	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00127422158163995	0.052
18	71740972	A	G	18	74073737	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.95539832591321E-5	0.014
18	71740972	A	T	18	74073737	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.95962104206253E-4	0.05
18	71740973	A	C	18	74073738	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999707578336405	0.984
18	71740973	A	G	18	74073738	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.60797038531368E-5	0.004
18	71740973	A	T	18	74073738	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0475275731033333	0.236
18	71740974	T	A	18	74073739	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.76268895404754E-5	0.004
18	71740974	T	C	18	74073739	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.1583907502259E-5	0.006
18	71740974	T	G	18	74073739	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.63065284904611E-6	0.0
18	71740975	A	C	18	74073740	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.202186749647496	0.502
18	71740975	A	G	18	74073740	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00205164629998318	0.088
18	71740975	A	T	18	74073740	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0884371806898229	0.474
18	71740976	A	C	18	74073741	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.162008286017697	0.464
18	71740976	A	G	18	74073741	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00592300146981107	0.112
18	71740976	A	T	18	74073741	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.628835318596361	0.462
18	71740977	A	C	18	74073742	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0107404347113811	0.376
18	71740977	A	G	18	74073742	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.28385763066492E-5	0.006
18	71740977	A	T	18	74073742	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00713561863364661	0.332
18	71749154	G	A	18	74081919	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.44008543591098E-5	0.004
18	71749154	G	C	18	74081919	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.82264575732229E-5	0.002
18	71749154	G	T	18	74081919	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.82264575732229E-5	0.002
18	71749155	T	A	18	74081920	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.38112956861348E-4	0.058
18	71749155	T	C	18	74081920	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.16281015864311E-4	0.018
18	71749155	T	G	18	74081920	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.35221447716412E-4	0.012
18	71749156	T	A	18	74081921	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.70485298469962E-5	0.028
18	71749156	T	C	18	74081921	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.12884915138823E-4	0.002
18	71749156	T	G	18	74081921	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.34771178596299E-4	0.082
18	71749157	T	A	18	74081922	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.51994497135475E-4	0.158
18	71749157	T	C	18	74081922	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.56079924169351E-4	0.022
18	71749157	T	G	18	74081922	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.66128548286597E-4	0.036
18	71749158	T	A	18	74081923	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.310590051501627	0.332
18	71749158	T	C	18	74081923	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.373251716192994	0.37
18	71749158	T	G	18	74081923	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0801134627557919	0.286
18	71749159	T	A	18	74081924	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999881232296742	0.93
18	71749159	T	C	18	74081924	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999530055877481	0.898
18	71749159	T	G	18	74081924	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999967412305753	0.994
18	71749160	A	C	18	74081925	y	y	splicing	FBXO15(NM_001142958:exon10:c.1263+2T>G;NM_152676:exon10:c.1035+2T>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.1035+2T>G;ENST00000583443:exon10:c.1392+2T>G;ENST00000419743:exon10:c.1263+2T>G;ENST00000581214:exon10:c.1227+2T>G;ENST00000580088:exon3:c.268+2T>G;ENST00000578399:exon6:c.549+2T>G)	.	.	0.999989917668626	0.914
18	71749160	A	G	18	74081925	y	y	splicing	FBXO15(NM_001142958:exon10:c.1263+2T>C;NM_152676:exon10:c.1035+2T>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.1035+2T>C;ENST00000583443:exon10:c.1392+2T>C;ENST00000419743:exon10:c.1263+2T>C;ENST00000581214:exon10:c.1227+2T>C;ENST00000580088:exon3:c.268+2T>C;ENST00000578399:exon6:c.549+2T>C)	.	.	0.992323021482646	0.642
18	71749160	A	T	18	74081925	y	y	splicing	FBXO15(NM_001142958:exon10:c.1263+2T>A;NM_152676:exon10:c.1035+2T>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.1035+2T>A;ENST00000583443:exon10:c.1392+2T>A;ENST00000419743:exon10:c.1263+2T>A;ENST00000581214:exon10:c.1227+2T>A;ENST00000580088:exon3:c.268+2T>A;ENST00000578399:exon6:c.549+2T>A)	.	.	0.999989917668626	0.914
18	71749161	C	A	18	74081926	y	y	splicing	FBXO15(NM_001142958:exon10:c.1263+1G>T;NM_152676:exon10:c.1035+1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.1035+1G>T;ENST00000583443:exon10:c.1392+1G>T;ENST00000419743:exon10:c.1263+1G>T;ENST00000581214:exon10:c.1227+1G>T;ENST00000580088:exon3:c.268+1G>T;ENST00000578399:exon6:c.549+1G>T)	.	.	0.999981760802075	0.922
18	71749161	C	G	18	74081926	y	y	splicing	FBXO15(NM_001142958:exon10:c.1263+1G>C;NM_152676:exon10:c.1035+1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.1035+1G>C;ENST00000583443:exon10:c.1392+1G>C;ENST00000419743:exon10:c.1263+1G>C;ENST00000581214:exon10:c.1227+1G>C;ENST00000580088:exon3:c.268+1G>C;ENST00000578399:exon6:c.549+1G>C)	.	.	0.999981760802075	0.922
18	71749161	C	T	18	74081926	y	y	splicing	FBXO15(NM_001142958:exon10:c.1263+1G>A;NM_152676:exon10:c.1035+1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.1035+1G>A;ENST00000583443:exon10:c.1392+1G>A;ENST00000419743:exon10:c.1263+1G>A;ENST00000581214:exon10:c.1227+1G>A;ENST00000580088:exon3:c.268+1G>A;ENST00000578399:exon6:c.549+1G>A)	.	.	0.999981760802075	0.92
18	71749162	C	A	18	74081927	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.G1035T:p.K345N;FBXO15:NM_001142958:exon9:c.G1263T:p.K421N;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.G1263T:p.K421N;ENSG00000141665:ENST00000269500:exon9:c.G1035T:p.K345N;	0.999982238692041	0.986
18	71749162	C	G	18	74081927	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.G1035C:p.K345N;FBXO15:NM_001142958:exon9:c.G1263C:p.K421N;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.G1263C:p.K421N;ENSG00000141665:ENST00000269500:exon9:c.G1035C:p.K345N;	0.999996725680658	0.986
18	71749162	C	T	18	74081927	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon9:c.G1035A:p.K345K;FBXO15:NM_001142958:exon9:c.G1263A:p.K421K;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.G1263A:p.K421K;ENSG00000141665:ENST00000269500:exon9:c.G1035A:p.K345K;	0.999974898423068	0.994
18	71749163	T	A	18	74081928	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.A1034T:p.K345M;FBXO15:NM_001142958:exon9:c.A1262T:p.K421M;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.A1262T:p.K421M;ENSG00000141665:ENST00000269500:exon9:c.A1034T:p.K345M;	0.9971084329991	0.878
18	71749163	T	C	18	74081928	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.A1034G:p.K345R;FBXO15:NM_001142958:exon9:c.A1262G:p.K421R;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.A1262G:p.K421R;ENSG00000141665:ENST00000269500:exon9:c.A1034G:p.K345R;	0.99673943699723	0.842
18	71749163	T	G	18	74081928	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.A1034C:p.K345T;FBXO15:NM_001142958:exon9:c.A1262C:p.K421T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.A1262C:p.K421T;ENSG00000141665:ENST00000269500:exon9:c.A1034C:p.K345T;	0.99482557166254	0.794
18	71749164	T	A	18	74081929	y	y	exonic	FBXO15	stopgain SNV	FBXO15:NM_152676:exon9:c.A1033T:p.K345X;FBXO15:NM_001142958:exon9:c.A1261T:p.K421X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000419743:exon9:c.A1261T:p.K421X;ENSG00000141665:ENST00000269500:exon9:c.A1033T:p.K345X;	0.369032426275392	0.572
18	71749164	T	C	18	74081929	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.A1033G:p.K345E;FBXO15:NM_001142958:exon9:c.A1261G:p.K421E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.A1261G:p.K421E;ENSG00000141665:ENST00000269500:exon9:c.A1033G:p.K345E;	3.49278977356006E-4	0.054
18	71749164	T	G	18	74081929	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.A1033C:p.K345Q;FBXO15:NM_001142958:exon9:c.A1261C:p.K421Q;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.A1261C:p.K421Q;ENSG00000141665:ENST00000269500:exon9:c.A1033C:p.K345Q;	9.31233897310739E-5	0.0
18	71749285	T	A	18	74082050	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon9:c.A912T:p.G304G;FBXO15:NM_001142958:exon9:c.A1140T:p.G380G;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.A1140T:p.G380G;ENSG00000141665:ENST00000269500:exon9:c.A912T:p.G304G;	9.42914652021189E-5	0.0
18	71749285	T	C	18	74082050	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon9:c.A912G:p.G304G;FBXO15:NM_001142958:exon9:c.A1140G:p.G380G;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.A1140G:p.G380G;ENSG00000141665:ENST00000269500:exon9:c.A912G:p.G304G;	1.40755412037424E-4	0.024
18	71749285	T	G	18	74082050	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon9:c.A912C:p.G304G;FBXO15:NM_001142958:exon9:c.A1140C:p.G380G;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.A1140C:p.G380G;ENSG00000141665:ENST00000269500:exon9:c.A912C:p.G304G;	2.26194668875486E-4	0.026
18	71749286	C	A	18	74082051	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.G911T:p.G304V;FBXO15:NM_001142958:exon9:c.G1139T:p.G380V;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.G1139T:p.G380V;ENSG00000141665:ENST00000269500:exon9:c.G911T:p.G304V;	0.122228546674478	0.364
18	71749286	C	G	18	74082051	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.G911C:p.G304A;FBXO15:NM_001142958:exon9:c.G1139C:p.G380A;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.G1139C:p.G380A;ENSG00000141665:ENST00000269500:exon9:c.G911C:p.G304A;	9.71907347789699E-4	0.328
18	71749286	C	T	18	74082051	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon9:c.G911A:p.G304E;FBXO15:NM_001142958:exon9:c.G1139A:p.G380E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon9:c.G1139A:p.G380E;ENSG00000141665:ENST00000269500:exon9:c.G911A:p.G304E;	8.92750093630789E-4	0.252
18	71749287	C	A	18	74082052	y	y	splicing	FBXO15(NM_001142958:exon10:c.1139-1G>T;NM_152676:exon10:c.911-1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.911-1G>T;ENST00000583443:exon10:c.1268-1G>T;ENST00000419743:exon10:c.1139-1G>T;ENST00000581214:exon10:c.1103-1G>T;ENST00000580088:exon3:c.144-1G>T;ENST00000578399:exon6:c.425-1G>T)	.	.	0.999952286258862	0.852
18	71749287	C	G	18	74082052	y	y	splicing	FBXO15(NM_001142958:exon10:c.1139-1G>C;NM_152676:exon10:c.911-1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.911-1G>C;ENST00000583443:exon10:c.1268-1G>C;ENST00000419743:exon10:c.1139-1G>C;ENST00000581214:exon10:c.1103-1G>C;ENST00000580088:exon3:c.144-1G>C;ENST00000578399:exon6:c.425-1G>C)	.	.	0.99995299556238	0.854
18	71749287	C	T	18	74082052	y	y	splicing	FBXO15(NM_001142958:exon10:c.1139-1G>A;NM_152676:exon10:c.911-1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.911-1G>A;ENST00000583443:exon10:c.1268-1G>A;ENST00000419743:exon10:c.1139-1G>A;ENST00000581214:exon10:c.1103-1G>A;ENST00000580088:exon3:c.144-1G>A;ENST00000578399:exon6:c.425-1G>A)	.	.	0.999952286258862	0.866
18	71749288	T	A	18	74082053	y	y	splicing	FBXO15(NM_001142958:exon10:c.1139-2A>T;NM_152676:exon10:c.911-2A>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.911-2A>T;ENST00000583443:exon10:c.1268-2A>T;ENST00000419743:exon10:c.1139-2A>T;ENST00000581214:exon10:c.1103-2A>T;ENST00000580088:exon3:c.144-2A>T;ENST00000578399:exon6:c.425-2A>T)	.	.	0.999969255906173	0.858
18	71749288	T	C	18	74082053	y	y	splicing	FBXO15(NM_001142958:exon10:c.1139-2A>G;NM_152676:exon10:c.911-2A>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.911-2A>G;ENST00000583443:exon10:c.1268-2A>G;ENST00000419743:exon10:c.1139-2A>G;ENST00000581214:exon10:c.1103-2A>G;ENST00000580088:exon3:c.144-2A>G;ENST00000578399:exon6:c.425-2A>G)	.	.	0.999962958601995	0.838
18	71749288	T	G	18	74082053	y	y	splicing	FBXO15(NM_001142958:exon10:c.1139-2A>C;NM_152676:exon10:c.911-2A>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon10:c.911-2A>C;ENST00000583443:exon10:c.1268-2A>C;ENST00000419743:exon10:c.1139-2A>C;ENST00000581214:exon10:c.1103-2A>C;ENST00000580088:exon3:c.144-2A>C;ENST00000578399:exon6:c.425-2A>C)	.	.	0.999962958601995	0.838
18	71749289	G	A	18	74082054	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00574638155928906	0.2
18	71749289	G	C	18	74082054	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.997981823537771	0.89
18	71749289	G	T	18	74082054	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.501490701560575	0.43
18	71749290	A	C	18	74082055	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.6831821570966E-4	0.022
18	71749290	A	G	18	74082055	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.10104281860218E-4	0.012
18	71749290	A	T	18	74082055	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.79722650898198E-4	0.0
18	71749291	A	C	18	74082056	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.835677402998772	0.482
18	71749291	A	G	18	74082056	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0266543703438747	0.162
18	71749291	A	T	18	74082056	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.278700675356503	0.398
18	71749292	A	C	18	74082057	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0387738819888961	0.392
18	71749292	A	G	18	74082057	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.40882777018436E-4	0.004
18	71749292	A	T	18	74082057	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0350344837532111	0.342
18	71749293	A	C	18	74082058	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.95149587648194E-4	0.036
18	71749293	A	G	18	74082058	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.9785241523191E-6	0.01
18	71749293	A	T	18	74082058	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.19587878505941E-4	0.044
18	71749294	G	A	18	74082059	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.65694475541421E-5	0.008
18	71749294	G	C	18	74082059	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.41892407125497E-4	0.012
18	71749294	G	T	18	74082059	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.2936707971788E-4	0.014
18	71749295	A	C	18	74082060	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.99953614359035	0.93
18	71749295	A	G	18	74082060	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.07810151911708E-4	0.044
18	71749295	A	T	18	74082060	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.190643125169051	0.496
18	71749296	T	A	18	74082061	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.83595606021194E-5	0.0
18	71749296	T	C	18	74082061	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.5897588627995E-5	0.0
18	71749296	T	G	18	74082061	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.13409144383853E-5	0.0
18	71749297	A	C	18	74082062	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.957741009840903	0.788
18	71749297	A	G	18	74082062	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.17823688684271E-4	0.076
18	71749297	A	T	18	74082062	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0119941860387221	0.302
18	71749298	T	A	18	74082063	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.1090815199934E-5	0.0
18	71749298	T	C	18	74082063	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.31303929162602E-5	0.004
18	71749298	T	G	18	74082063	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.04327916805655E-5	0.0
18	71790595	A	C	18	74123360	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	1.95682285596327E-5	0.038
18	71790595	A	G	18	74123360	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	2.14630219234565E-5	0.018
18	71790595	A	T	18	74123360	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	2.17315186652322E-5	0.018
18	71790596	A	C	18	74123361	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	1.65946499532029E-5	0.036
18	71790596	A	G	18	74123361	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	1.07433072130467E-5	0.042
18	71790596	A	T	18	74123361	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	1.65946499532029E-5	0.032
18	71790597	T	A	18	74123362	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	1.29025094193889E-4	0.072
18	71790597	T	C	18	74123362	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	5.81777995523754E-5	0.082
18	71790597	T	G	18	74123362	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	3.12975209026799E-4	0.086
18	71790598	T	A	18	74123363	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	7.22128671620674E-5	0.018
18	71790598	T	C	18	74123363	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	4.89901391783687E-5	0.002
18	71790598	T	G	18	74123363	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	4.15620093229155E-5	0.016
18	71790599	T	A	18	74123364	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	0.997071877010823	0.83
18	71790599	T	C	18	74123364	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	0.996930192842362	0.86
18	71790599	T	G	18	74123364	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	0.99932354865285	0.78
18	71790600	C	A	18	74123365	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	0.987498365565021	0.642
18	71790600	C	G	18	74123365	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	0.966222943776224	0.594
18	71790600	C	T	18	74123365	y	n	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	5.77375320134554E-5	0.068
18	71790601	A	C	18	74123366	y	n	splicing	FBXO15(NM_001142958:exon9:c.1138+2T>G;NM_152676:exon9:c.910+2T>G)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000269500:exon9:c.910+2T>G;ENST00000583443:exon9:c.1267+2T>G;ENST00000419743:exon9:c.1138+2T>G;ENST00000581214:exon9:c.1102+2T>G;ENST00000580088:exon2:c.143+2T>G;ENST00000578399:exon5:c.424+2T>G)	unknown	UNKNOWN	0.999972732167028	0.784
18	71790601	A	G	18	74123366	y	n	splicing	FBXO15(NM_001142958:exon9:c.1138+2T>C;NM_152676:exon9:c.910+2T>C)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000269500:exon9:c.910+2T>C;ENST00000583443:exon9:c.1267+2T>C;ENST00000419743:exon9:c.1138+2T>C;ENST00000581214:exon9:c.1102+2T>C;ENST00000580088:exon2:c.143+2T>C;ENST00000578399:exon5:c.424+2T>C)	unknown	UNKNOWN	0.997336489698602	0.672
18	71790601	A	T	18	74123366	y	n	splicing	FBXO15(NM_001142958:exon9:c.1138+2T>A;NM_152676:exon9:c.910+2T>A)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000269500:exon9:c.910+2T>A;ENST00000583443:exon9:c.1267+2T>A;ENST00000419743:exon9:c.1138+2T>A;ENST00000581214:exon9:c.1102+2T>A;ENST00000580088:exon2:c.143+2T>A;ENST00000578399:exon5:c.424+2T>A)	unknown	UNKNOWN	0.999972732167028	0.802
18	71790602	C	A	18	74123367	y	n	splicing	FBXO15(NM_001142958:exon9:c.1138+1G>T;NM_152676:exon9:c.910+1G>T)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000269500:exon9:c.910+1G>T;ENST00000583443:exon9:c.1267+1G>T;ENST00000419743:exon9:c.1138+1G>T;ENST00000581214:exon9:c.1102+1G>T;ENST00000580088:exon2:c.143+1G>T;ENST00000578399:exon5:c.424+1G>T)	unknown	UNKNOWN	0.999882137618262	0.792
18	71790602	C	G	18	74123367	y	n	splicing	FBXO15(NM_001142958:exon9:c.1138+1G>C;NM_152676:exon9:c.910+1G>C)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000269500:exon9:c.910+1G>C;ENST00000583443:exon9:c.1267+1G>C;ENST00000419743:exon9:c.1138+1G>C;ENST00000581214:exon9:c.1102+1G>C;ENST00000580088:exon2:c.143+1G>C;ENST00000578399:exon5:c.424+1G>C)	unknown	UNKNOWN	0.999882137618262	0.792
18	71790602	C	T	18	74123367	y	n	splicing	FBXO15(NM_001142958:exon9:c.1138+1G>A;NM_152676:exon9:c.910+1G>A)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000269500:exon9:c.910+1G>A;ENST00000583443:exon9:c.1267+1G>A;ENST00000419743:exon9:c.1138+1G>A;ENST00000581214:exon9:c.1102+1G>A;ENST00000580088:exon2:c.143+1G>A;ENST00000578399:exon5:c.424+1G>A)	unknown	UNKNOWN	0.999882137618262	0.792
18	71790603	C	A	18	74123368	y	n	exonic	FBXO15	stopgain SNV	FBXO15:NM_152676:exon8:c.G910T:p.G304X;FBXO15:NM_001142958:exon8:c.G1138T:p.G380X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000419743:exon8:c.G1138T:p.G380X;ENSG00000141665:ENST00000269500:exon8:c.G910T:p.G304X;	0.999956502856837	0.99
18	71790603	C	G	18	74123368	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.G910C:p.G304R;FBXO15:NM_001142958:exon8:c.G1138C:p.G380R;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.G1138C:p.G380R;ENSG00000141665:ENST00000269500:exon8:c.G910C:p.G304R;	0.999988018338746	0.994
18	71790603	C	T	18	74123368	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.G910A:p.G304R;FBXO15:NM_001142958:exon8:c.G1138A:p.G380R;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.G1138A:p.G380R;ENSG00000141665:ENST00000269500:exon8:c.G910A:p.G304R;	0.999981428890508	0.99
18	71790604	T	A	18	74123369	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.A909T:p.R303S;FBXO15:NM_001142958:exon8:c.A1137T:p.R379S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.A1137T:p.R379S;ENSG00000141665:ENST00000269500:exon8:c.A909T:p.R303S;	0.997741706739093	0.922
18	71790604	T	C	18	74123369	y	n	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon8:c.A909G:p.R303R;FBXO15:NM_001142958:exon8:c.A1137G:p.R379R;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.A1137G:p.R379R;ENSG00000141665:ENST00000269500:exon8:c.A909G:p.R303R;	0.996798705262911	0.904
18	71790604	T	G	18	74123369	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.A909C:p.R303S;FBXO15:NM_001142958:exon8:c.A1137C:p.R379S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.A1137C:p.R379S;ENSG00000141665:ENST00000269500:exon8:c.A909C:p.R303S;	0.993166572029521	0.92
18	71790605	C	A	18	74123370	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.G908T:p.R303I;FBXO15:NM_001142958:exon8:c.G1136T:p.R379I;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.G1136T:p.R379I;ENSG00000141665:ENST00000269500:exon8:c.G908T:p.R303I;	0.009531740370424	0.124
18	71790605	C	G	18	74123370	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.G908C:p.R303T;FBXO15:NM_001142958:exon8:c.G1136C:p.R379T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.G1136C:p.R379T;ENSG00000141665:ENST00000269500:exon8:c.G908C:p.R303T;	2.80769666264572E-5	0.0
18	71790605	C	T	18	74123370	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.G908A:p.R303K;FBXO15:NM_001142958:exon8:c.G1136A:p.R379K;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.G1136A:p.R379K;ENSG00000141665:ENST00000269500:exon8:c.G908A:p.R303K;	2.63756184029401E-5	0.006
18	71790744	G	A	18	74123509	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.C769T:p.P257S;FBXO15:NM_001142958:exon8:c.C997T:p.P333S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.C997T:p.P333S;ENSG00000141665:ENST00000269500:exon8:c.C769T:p.P257S;	0.00179233590137114	0.034
18	71790744	G	C	18	74123509	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.C769G:p.P257A;FBXO15:NM_001142958:exon8:c.C997G:p.P333A;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.C997G:p.P333A;ENSG00000141665:ENST00000269500:exon8:c.C769G:p.P257A;	6.51051673577393E-4	0.066
18	71790744	G	T	18	74123509	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.C769A:p.P257T;FBXO15:NM_001142958:exon8:c.C997A:p.P333T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.C997A:p.P333T;ENSG00000141665:ENST00000269500:exon8:c.C769A:p.P257T;	9.27054583872531E-4	0.032
18	71790745	G	A	18	74123510	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon8:c.C768T:p.I256I;FBXO15:NM_001142958:exon8:c.C996T:p.I332I;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.C996T:p.I332I;ENSG00000141665:ENST00000269500:exon8:c.C768T:p.I256I;	3.27229550670689E-5	0.0
18	71790745	G	C	18	74123510	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon8:c.C768G:p.I256M;FBXO15:NM_001142958:exon8:c.C996G:p.I332M;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.C996G:p.I332M;ENSG00000141665:ENST00000269500:exon8:c.C768G:p.I256M;	3.77948443598862E-5	0.126
18	71790745	G	T	18	74123510	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon8:c.C768A:p.I256I;FBXO15:NM_001142958:exon8:c.C996A:p.I332I;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon8:c.C996A:p.I332I;ENSG00000141665:ENST00000269500:exon8:c.C768A:p.I256I;	1.64305550328267E-5	0.002
18	71790746	C	A	18	74123511	y	y	splicing	FBXO15(NM_001142958:exon9:c.996-1G>T;NM_152676:exon9:c.768-1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon9:c.768-1G>T;ENST00000583443:exon9:c.1125-1G>T;ENST00000419743:exon9:c.996-1G>T;ENST00000581214:exon9:c.960-1G>T;ENST00000578399:exon5:c.282-1G>T;ENST00000579517:exon5:c.214-1G>T)	.	.	0.999983516200275	0.76
18	71790746	C	G	18	74123511	y	y	splicing	FBXO15(NM_001142958:exon9:c.996-1G>C;NM_152676:exon9:c.768-1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon9:c.768-1G>C;ENST00000583443:exon9:c.1125-1G>C;ENST00000419743:exon9:c.996-1G>C;ENST00000581214:exon9:c.960-1G>C;ENST00000578399:exon5:c.282-1G>C;ENST00000579517:exon5:c.214-1G>C)	.	.	0.999983516200275	0.756
18	71790746	C	T	18	74123511	y	y	splicing	FBXO15(NM_001142958:exon9:c.996-1G>A;NM_152676:exon9:c.768-1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon9:c.768-1G>A;ENST00000583443:exon9:c.1125-1G>A;ENST00000419743:exon9:c.996-1G>A;ENST00000581214:exon9:c.960-1G>A;ENST00000578399:exon5:c.282-1G>A;ENST00000579517:exon5:c.214-1G>A)	.	.	0.999983516200275	0.776
18	71790747	T	A	18	74123512	y	y	splicing	FBXO15(NM_001142958:exon9:c.996-2A>T;NM_152676:exon9:c.768-2A>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon9:c.768-2A>T;ENST00000583443:exon9:c.1125-2A>T;ENST00000419743:exon9:c.996-2A>T;ENST00000581214:exon9:c.960-2A>T;ENST00000578399:exon5:c.282-2A>T;ENST00000579517:exon5:c.214-2A>T)	.	.	0.999941977319723	0.748
18	71790747	T	C	18	74123512	y	y	splicing	FBXO15(NM_001142958:exon9:c.996-2A>G;NM_152676:exon9:c.768-2A>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon9:c.768-2A>G;ENST00000583443:exon9:c.1125-2A>G;ENST00000419743:exon9:c.996-2A>G;ENST00000581214:exon9:c.960-2A>G;ENST00000578399:exon5:c.282-2A>G;ENST00000579517:exon5:c.214-2A>G)	.	.	0.999941977319723	0.724
18	71790747	T	G	18	74123512	y	y	splicing	FBXO15(NM_001142958:exon9:c.996-2A>C;NM_152676:exon9:c.768-2A>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon9:c.768-2A>C;ENST00000583443:exon9:c.1125-2A>C;ENST00000419743:exon9:c.996-2A>C;ENST00000581214:exon9:c.960-2A>C;ENST00000578399:exon5:c.282-2A>C;ENST00000579517:exon5:c.214-2A>C)	.	.	0.999941977319723	0.726
18	71790748	G	A	18	74123513	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.94871339072021E-4	0.114
18	71790748	G	C	18	74123513	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.997917196129593	0.872
18	71790748	G	T	18	74123513	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0204902238955008	0.398
18	71790749	A	C	18	74123514	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.80783018859399E-5	0.018
18	71790749	A	G	18	74123514	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.50887893794351E-5	0.0
18	71790749	A	T	18	74123514	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.89670348588261E-5	0.002
18	71790750	A	C	18	74123515	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.115562065166532	0.394
18	71790750	A	G	18	74123515	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.4766012054989E-4	0.096
18	71790750	A	T	18	74123515	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.133137702941773	0.4
18	71790751	A	C	18	74123516	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.148934668843892	0.434
18	71790751	A	G	18	74123516	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.79033013531956E-5	0.03
18	71790751	A	T	18	74123516	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.248606998567618	0.424
18	71790752	A	C	18	74123517	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00455736289695647	0.072
18	71790752	A	G	18	74123517	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.58878094797581E-5	0.002
18	71790752	A	T	18	74123517	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00723327406141477	0.09
18	71790753	G	A	18	74123518	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.54878320533323E-5	0.008
18	71790753	G	C	18	74123518	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.115775950485E-4	0.098
18	71790753	G	T	18	74123518	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.15885700082334E-4	0.11
18	71790754	C	A	18	74123519	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.42459840573998E-5	0.002
18	71790754	C	G	18	74123519	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.78963313885222E-5	0.0
18	71790754	C	T	18	74123519	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.92317593341148E-5	0.0
18	71790755	A	C	18	74123520	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.199251861532786	0.416
18	71790755	A	G	18	74123520	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.41700373397749E-4	0.044
18	71790755	A	T	18	74123520	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999868155778325	0.98
18	71790756	A	C	18	74123521	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0640333850501568	0.358
18	71790756	A	G	18	74123521	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00898134686206495	0.104
18	71790756	A	T	18	74123521	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.36177743744806	0.496
18	71790757	A	C	18	74123522	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.110804781705248	0.448
18	71790757	A	G	18	74123522	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.03619912692582E-4	0.06
18	71790757	A	T	18	74123522	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.248017694785548	0.512
18	71791716	A	C	18	74124481	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00127995905085427	0.006
18	71791716	A	G	18	74124481	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.05247240339691E-4	0.0
18	71791716	A	T	18	74124481	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00118872806913122	0.0
18	71791717	T	A	18	74124482	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0135087100001459	0.19
18	71791717	T	C	18	74124482	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00339695514153739	0.054
18	71791717	T	G	18	74124482	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00103295411784212	0.01
18	71791718	A	C	18	74124483	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.998496870795645	0.896
18	71791718	A	G	18	74124483	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.998672121271074	0.944
18	71791718	A	T	18	74124483	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.99952671452098	0.798
18	71791719	C	A	18	74124484	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999950291575004	0.994
18	71791719	C	G	18	74124484	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999950291575004	1.0
18	71791719	C	T	18	74124484	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999950291575004	1.0
18	71791720	A	C	18	74124485	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00286328681657294	0.136
18	71791720	A	G	18	74124485	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.84766800500061E-4	0.134
18	71791720	A	T	18	74124485	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.62143555650015E-4	0.058
18	71791721	T	A	18	74124486	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999912015102903	0.956
18	71791721	T	C	18	74124486	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999884338657802	0.96
18	71791721	T	G	18	74124486	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999872433915849	0.952
18	71791722	A	C	18	74124487	y	y	splicing	FBXO15(NM_001142958:exon8:c.995+2T>G;NM_152676:exon8:c.767+2T>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.767+2T>G;ENST00000583443:exon8:c.1124+2T>G;ENST00000419743:exon8:c.995+2T>G;ENST00000581214:exon8:c.959+2T>G;ENST00000578399:exon4:c.281+2T>G;ENST00000579517:exon4:c.213+2T>G)	.	.	0.999989917668626	0.946
18	71791722	A	G	18	74124487	y	y	splicing	FBXO15(NM_001142958:exon8:c.995+2T>C;NM_152676:exon8:c.767+2T>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.767+2T>C;ENST00000583443:exon8:c.1124+2T>C;ENST00000419743:exon8:c.995+2T>C;ENST00000581214:exon8:c.959+2T>C;ENST00000578399:exon4:c.281+2T>C;ENST00000579517:exon4:c.213+2T>C)	.	.	0.986528855787127	0.624
18	71791722	A	T	18	74124487	y	y	splicing	FBXO15(NM_001142958:exon8:c.995+2T>A;NM_152676:exon8:c.767+2T>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.767+2T>A;ENST00000583443:exon8:c.1124+2T>A;ENST00000419743:exon8:c.995+2T>A;ENST00000581214:exon8:c.959+2T>A;ENST00000578399:exon4:c.281+2T>A;ENST00000579517:exon4:c.213+2T>A)	.	.	0.999989917668626	0.946
18	71791723	C	A	18	74124488	y	y	splicing	FBXO15(NM_001142958:exon8:c.995+1G>T;NM_152676:exon8:c.767+1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.767+1G>T;ENST00000583443:exon8:c.1124+1G>T;ENST00000419743:exon8:c.995+1G>T;ENST00000581214:exon8:c.959+1G>T;ENST00000578399:exon4:c.281+1G>T;ENST00000579517:exon4:c.213+1G>T)	.	.	0.999986675681007	0.956
18	71791723	C	G	18	74124488	y	y	splicing	FBXO15(NM_001142958:exon8:c.995+1G>C;NM_152676:exon8:c.767+1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.767+1G>C;ENST00000583443:exon8:c.1124+1G>C;ENST00000419743:exon8:c.995+1G>C;ENST00000581214:exon8:c.959+1G>C;ENST00000578399:exon4:c.281+1G>C;ENST00000579517:exon4:c.213+1G>C)	.	.	0.999986675681007	0.956
18	71791723	C	T	18	74124488	y	y	splicing	FBXO15(NM_001142958:exon8:c.995+1G>A;NM_152676:exon8:c.767+1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.767+1G>A;ENST00000583443:exon8:c.1124+1G>A;ENST00000419743:exon8:c.995+1G>A;ENST00000581214:exon8:c.959+1G>A;ENST00000578399:exon4:c.281+1G>A;ENST00000579517:exon4:c.213+1G>A)	.	.	0.999986675681007	0.956
18	71791724	A	C	18	74124489	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.T767G:p.I256S;FBXO15:NM_001142958:exon7:c.T995G:p.I332S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.T995G:p.I332S;ENSG00000141665:ENST00000269500:exon7:c.T767G:p.I256S;	7.5926398666049E-5	0.018
18	71791724	A	G	18	74124489	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.T767C:p.I256T;FBXO15:NM_001142958:exon7:c.T995C:p.I332T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.T995C:p.I332T;ENSG00000141665:ENST00000269500:exon7:c.T767C:p.I256T;	3.81609343037104E-5	0.194
18	71791724	A	T	18	74124489	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.T767A:p.I256N;FBXO15:NM_001142958:exon7:c.T995A:p.I332N;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.T995A:p.I332N;ENSG00000141665:ENST00000269500:exon7:c.T767A:p.I256N;	2.29187562713279E-5	0.014
18	71791725	T	A	18	74124490	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.A766T:p.I256F;FBXO15:NM_001142958:exon7:c.A994T:p.I332F;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.A994T:p.I332F;ENSG00000141665:ENST00000269500:exon7:c.A766T:p.I256F;	0.29763976005168	0.602
18	71791725	T	C	18	74124490	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.A766G:p.I256V;FBXO15:NM_001142958:exon7:c.A994G:p.I332V;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.A994G:p.I332V;ENSG00000141665:ENST00000269500:exon7:c.A766G:p.I256V;	0.0929708930639664	0.536
18	71791725	T	G	18	74124490	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.A766C:p.I256L;FBXO15:NM_001142958:exon7:c.A994C:p.I332L;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.A994C:p.I332L;ENSG00000141665:ENST00000269500:exon7:c.A766C:p.I256L;	0.212580683672949	0.618
18	71791726	A	C	18	74124491	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon7:c.T765G:p.T255T;FBXO15:NM_001142958:exon7:c.T993G:p.T331T;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.T993G:p.T331T;ENSG00000141665:ENST00000269500:exon7:c.T765G:p.T255T;	3.65324800780003E-4	0.07
18	71791726	A	G	18	74124491	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon7:c.T765C:p.T255T;FBXO15:NM_001142958:exon7:c.T993C:p.T331T;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.T993C:p.T331T;ENSG00000141665:ENST00000269500:exon7:c.T765C:p.T255T;	2.75812463511018E-4	0.046
18	71791726	A	T	18	74124491	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon7:c.T765A:p.T255T;FBXO15:NM_001142958:exon7:c.T993A:p.T331T;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.T993A:p.T331T;ENSG00000141665:ENST00000269500:exon7:c.T765A:p.T255T;	3.74566183869135E-4	0.072
18	71791805	T	A	18	74124570	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.A686T:p.K229M;FBXO15:NM_001142958:exon7:c.A914T:p.K305M;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.A914T:p.K305M;ENSG00000141665:ENST00000269500:exon7:c.A686T:p.K229M;	4.65610494256107E-4	0.058
18	71791805	T	C	18	74124570	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.A686G:p.K229R;FBXO15:NM_001142958:exon7:c.A914G:p.K305R;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.A914G:p.K305R;ENSG00000141665:ENST00000269500:exon7:c.A686G:p.K229R;	1.5259288276443E-4	0.01
18	71791805	T	G	18	74124570	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.A686C:p.K229T;FBXO15:NM_001142958:exon7:c.A914C:p.K305T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.A914C:p.K305T;ENSG00000141665:ENST00000269500:exon7:c.A686C:p.K229T;	1.75002770627509E-4	0.026
18	71791806	T	A	18	74124571	y	y	exonic	FBXO15	stopgain SNV	FBXO15:NM_152676:exon7:c.A685T:p.K229X;FBXO15:NM_001142958:exon7:c.A913T:p.K305X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000419743:exon7:c.A913T:p.K305X;ENSG00000141665:ENST00000269500:exon7:c.A685T:p.K229X;	9.25612603176165E-4	0.314
18	71791806	T	C	18	74124571	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.A685G:p.K229E;FBXO15:NM_001142958:exon7:c.A913G:p.K305E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.A913G:p.K305E;ENSG00000141665:ENST00000269500:exon7:c.A685G:p.K229E;	1.00234177973406E-4	0.014
18	71791806	T	G	18	74124571	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon7:c.A685C:p.K229Q;FBXO15:NM_001142958:exon7:c.A913C:p.K305Q;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon7:c.A913C:p.K305Q;ENSG00000141665:ENST00000269500:exon7:c.A685C:p.K229Q;	0.00506105707556258	0.152
18	71791807	C	A	18	74124572	y	y	splicing	FBXO15(NM_001142958:exon8:c.913-1G>T;NM_152676:exon8:c.685-1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.685-1G>T;ENST00000583443:exon8:c.1042-1G>T;ENST00000419743:exon8:c.913-1G>T;ENST00000581214:exon8:c.877-1G>T;ENST00000578399:exon4:c.199-1G>T;ENST00000579517:exon4:c.131-1G>T)	.	.	0.999984967332678	0.946
18	71791807	C	G	18	74124572	y	y	splicing	FBXO15(NM_001142958:exon8:c.913-1G>C;NM_152676:exon8:c.685-1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.685-1G>C;ENST00000583443:exon8:c.1042-1G>C;ENST00000419743:exon8:c.913-1G>C;ENST00000581214:exon8:c.877-1G>C;ENST00000578399:exon4:c.199-1G>C;ENST00000579517:exon4:c.131-1G>C)	.	.	0.999984967332678	0.946
18	71791807	C	T	18	74124572	y	y	splicing	FBXO15(NM_001142958:exon8:c.913-1G>A;NM_152676:exon8:c.685-1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.685-1G>A;ENST00000583443:exon8:c.1042-1G>A;ENST00000419743:exon8:c.913-1G>A;ENST00000581214:exon8:c.877-1G>A;ENST00000578399:exon4:c.199-1G>A;ENST00000579517:exon4:c.131-1G>A)	.	.	0.999984967332678	0.946
18	71791808	T	A	18	74124573	y	y	splicing	FBXO15(NM_001142958:exon8:c.913-2A>T;NM_152676:exon8:c.685-2A>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.685-2A>T;ENST00000583443:exon8:c.1042-2A>T;ENST00000419743:exon8:c.913-2A>T;ENST00000581214:exon8:c.877-2A>T;ENST00000578399:exon4:c.199-2A>T;ENST00000579517:exon4:c.131-2A>T)	.	.	0.999988624979899	0.938
18	71791808	T	C	18	74124573	y	y	splicing	FBXO15(NM_001142958:exon8:c.913-2A>G;NM_152676:exon8:c.685-2A>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.685-2A>G;ENST00000583443:exon8:c.1042-2A>G;ENST00000419743:exon8:c.913-2A>G;ENST00000581214:exon8:c.877-2A>G;ENST00000578399:exon4:c.199-2A>G;ENST00000579517:exon4:c.131-2A>G)	.	.	0.999988624979899	0.938
18	71791808	T	G	18	74124573	y	y	splicing	FBXO15(NM_001142958:exon8:c.913-2A>C;NM_152676:exon8:c.685-2A>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon8:c.685-2A>C;ENST00000583443:exon8:c.1042-2A>C;ENST00000419743:exon8:c.913-2A>C;ENST00000581214:exon8:c.877-2A>C;ENST00000578399:exon4:c.199-2A>C;ENST00000579517:exon4:c.131-2A>C)	.	.	0.999988624979899	0.938
18	71791809	G	A	18	74124574	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.629638161700212	0.208
18	71791809	G	C	18	74124574	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999934427320642	0.99
18	71791809	G	T	18	74124574	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999607597405412	0.924
18	71791810	A	C	18	74124575	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.39477682447917E-4	0.154
18	71791810	A	G	18	74124575	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.57262889250633E-4	0.16
18	71791810	A	T	18	74124575	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.71892894611218E-4	0.066
18	71791811	A	C	18	74124576	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.996584985717521	0.884
18	71791811	A	G	18	74124576	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.126508358516894	0.322
18	71791811	A	T	18	74124576	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.9961841206527	0.926
18	71791812	A	C	18	74124577	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.98255220806493	0.858
18	71791812	A	G	18	74124577	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00619139763746959	0.16
18	71791812	A	T	18	74124577	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.986903461979782	0.866
18	71791813	A	C	18	74124578	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0645165410247929	0.296
18	71791813	A	G	18	74124578	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.58674946563722E-4	0.074
18	71791813	A	T	18	74124578	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.029506096339997	0.338
18	71791814	G	A	18	74124579	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.82995467070694E-5	0.008
18	71791814	G	C	18	74124579	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999519690720479	0.976
18	71791814	G	T	18	74124579	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00167316703886793	0.15
18	71791815	T	A	18	74124580	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.30333741941093E-4	0.238
18	71791815	T	C	18	74124580	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.99950520428423	0.954
18	71791815	T	G	18	74124580	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.96107185994054E-4	0.178
18	71791816	T	A	18	74124581	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.84687492401222E-5	0.222
18	71791816	T	C	18	74124581	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.71544459663163E-6	0.036
18	71791816	T	G	18	74124581	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.86752163432641E-6	0.128
18	71791817	A	C	18	74124582	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999751908636246	0.94
18	71791817	A	G	18	74124582	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.983062957487732	0.726
18	71791817	A	T	18	74124582	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999775544834696	0.966
18	71791818	A	C	18	74124583	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999990660487436	0.966
18	71791818	A	G	18	74124583	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.119166265662393	0.318
18	71791818	A	T	18	74124583	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.997664670716531	0.85
18	71793202	A	C	18	74125967	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.56864328490633E-5	0.0
18	71793202	A	G	18	74125967	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.87680416612575E-5	0.0
18	71793202	A	T	18	74125967	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.93008933363103E-5	0.0
18	71793203	G	A	18	74125968	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.64788441563758E-5	0.0
18	71793203	G	C	18	74125968	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.49349333464341E-5	0.0
18	71793203	G	T	18	74125968	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.3519283322177E-6	0.0
18	71793204	T	A	18	74125969	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.23079100050796E-5	0.04
18	71793204	T	C	18	74125969	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.3016885825476E-5	0.016
18	71793204	T	G	18	74125969	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.69835070808629E-5	0.022
18	71793205	C	A	18	74125970	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.713996275144796	0.506
18	71793205	C	G	18	74125970	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.741616299422875	0.49
18	71793205	C	T	18	74125970	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.819704180109243	0.552
18	71793206	T	A	18	74125971	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.228975666802011	0.42
18	71793206	T	C	18	74125971	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.586196851664559	0.504
18	71793206	T	G	18	74125971	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.246562962629121	0.426
18	71793207	T	A	18	74125972	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.767824595615152	0.49
18	71793207	T	C	18	74125972	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00210407523772528	0.06
18	71793207	T	G	18	74125972	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.848581751800985	0.522
18	71793208	A	C	18	74125973	y	y	splicing	FBXO15(NM_001142958:exon7:c.912+2T>G;NM_152676:exon7:c.684+2T>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.684+2T>G;ENST00000583443:exon7:c.1041+2T>G;ENST00000419743:exon7:c.912+2T>G;ENST00000581214:exon7:c.876+2T>G;ENST00000579517:exon3:c.130+2T>G)	.	.	0.999895169887144	0.848
18	71793208	A	G	18	74125973	y	y	splicing	FBXO15(NM_001142958:exon7:c.912+2T>C;NM_152676:exon7:c.684+2T>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.684+2T>C;ENST00000583443:exon7:c.1041+2T>C;ENST00000419743:exon7:c.912+2T>C;ENST00000581214:exon7:c.876+2T>C;ENST00000579517:exon3:c.130+2T>C)	.	.	0.923608036048653	0.518
18	71793208	A	T	18	74125973	y	y	splicing	FBXO15(NM_001142958:exon7:c.912+2T>A;NM_152676:exon7:c.684+2T>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.684+2T>A;ENST00000583443:exon7:c.1041+2T>A;ENST00000419743:exon7:c.912+2T>A;ENST00000581214:exon7:c.876+2T>A;ENST00000579517:exon3:c.130+2T>A)	.	.	0.999893588078984	0.87
18	71793209	C	A	18	74125974	y	y	splicing	FBXO15(NM_001142958:exon7:c.912+1G>T;NM_152676:exon7:c.684+1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.684+1G>T;ENST00000583443:exon7:c.1041+1G>T;ENST00000419743:exon7:c.912+1G>T;ENST00000581214:exon7:c.876+1G>T;ENST00000579517:exon3:c.130+1G>T)	.	.	0.999958812450268	0.936
18	71793209	C	G	18	74125974	y	y	splicing	FBXO15(NM_001142958:exon7:c.912+1G>C;NM_152676:exon7:c.684+1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.684+1G>C;ENST00000583443:exon7:c.1041+1G>C;ENST00000419743:exon7:c.912+1G>C;ENST00000581214:exon7:c.876+1G>C;ENST00000579517:exon3:c.130+1G>C)	.	.	0.999945530492988	0.894
18	71793209	C	T	18	74125974	y	y	splicing	FBXO15(NM_001142958:exon7:c.912+1G>A;NM_152676:exon7:c.684+1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.684+1G>A;ENST00000583443:exon7:c.1041+1G>A;ENST00000419743:exon7:c.912+1G>A;ENST00000581214:exon7:c.876+1G>A;ENST00000579517:exon3:c.130+1G>A)	.	.	0.999960200702261	0.938
18	71793210	C	A	18	74125975	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.G684T:p.K228N;FBXO15:NM_001142958:exon6:c.G912T:p.K304N;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.G912T:p.K304N;ENSG00000141665:ENST00000269500:exon6:c.G684T:p.K228N;	0.999737914947275	0.92
18	71793210	C	G	18	74125975	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.G684C:p.K228N;FBXO15:NM_001142958:exon6:c.G912C:p.K304N;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.G912C:p.K304N;ENSG00000141665:ENST00000269500:exon6:c.G684C:p.K228N;	0.99474105564652	0.65
18	71793210	C	T	18	74125975	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon6:c.G684A:p.K228K;FBXO15:NM_001142958:exon6:c.G912A:p.K304K;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.G912A:p.K304K;ENSG00000141665:ENST00000269500:exon6:c.G684A:p.K228K;	0.99063842659984	0.924
18	71793211	T	A	18	74125976	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.A683T:p.K228M;FBXO15:NM_001142958:exon6:c.A911T:p.K304M;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.A911T:p.K304M;ENSG00000141665:ENST00000269500:exon6:c.A683T:p.K228M;	0.554200123811509	0.528
18	71793211	T	C	18	74125976	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.A683G:p.K228R;FBXO15:NM_001142958:exon6:c.A911G:p.K304R;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.A911G:p.K304R;ENSG00000141665:ENST00000269500:exon6:c.A683G:p.K228R;	0.879296958079665	0.618
18	71793211	T	G	18	74125976	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.A683C:p.K228T;FBXO15:NM_001142958:exon6:c.A911C:p.K304T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.A911C:p.K304T;ENSG00000141665:ENST00000269500:exon6:c.A683C:p.K228T;	0.189030541975719	0.518
18	71793212	T	A	18	74125977	y	y	exonic	FBXO15	stopgain SNV	FBXO15:NM_152676:exon6:c.A682T:p.K228X;FBXO15:NM_001142958:exon6:c.A910T:p.K304X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000419743:exon6:c.A910T:p.K304X;ENSG00000141665:ENST00000269500:exon6:c.A682T:p.K228X;	0.00654362226008508	0.248
18	71793212	T	C	18	74125977	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.A682G:p.K228E;FBXO15:NM_001142958:exon6:c.A910G:p.K304E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.A910G:p.K304E;ENSG00000141665:ENST00000269500:exon6:c.A682G:p.K228E;	2.86048088941687E-4	0.056
18	71793212	T	G	18	74125977	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.A682C:p.K228Q;FBXO15:NM_001142958:exon6:c.A910C:p.K304Q;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.A910C:p.K304Q;ENSG00000141665:ENST00000269500:exon6:c.A682C:p.K228Q;	9.60760227866526E-5	0.0
18	71793335	G	A	18	74126100	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.C559T:p.L187F;FBXO15:NM_001142958:exon6:c.C787T:p.L263F;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.C787T:p.L263F;ENSG00000141665:ENST00000269500:exon6:c.C559T:p.L187F;	0.0036010952990353	0.104
18	71793335	G	C	18	74126100	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.C559G:p.L187V;FBXO15:NM_001142958:exon6:c.C787G:p.L263V;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.C787G:p.L263V;ENSG00000141665:ENST00000269500:exon6:c.C559G:p.L187V;	0.00224258221584426	0.05
18	71793335	G	T	18	74126100	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.C559A:p.L187I;FBXO15:NM_001142958:exon6:c.C787A:p.L263I;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.C787A:p.L263I;ENSG00000141665:ENST00000269500:exon6:c.C559A:p.L187I;	0.00610722261366576	0.122
18	71793336	T	A	18	74126101	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.A558T:p.R186S;FBXO15:NM_001142958:exon6:c.A786T:p.R262S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.A786T:p.R262S;ENSG00000141665:ENST00000269500:exon6:c.A558T:p.R186S;	3.56765353159794E-4	0.06
18	71793336	T	C	18	74126101	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon6:c.A558G:p.R186R;FBXO15:NM_001142958:exon6:c.A786G:p.R262R;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.A786G:p.R262R;ENSG00000141665:ENST00000269500:exon6:c.A558G:p.R186R;	3.49718518883122E-5	0.064
18	71793336	T	G	18	74126101	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon6:c.A558C:p.R186S;FBXO15:NM_001142958:exon6:c.A786C:p.R262S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon6:c.A786C:p.R262S;ENSG00000141665:ENST00000269500:exon6:c.A558C:p.R186S;	1.22115093986003E-4	0.244
18	71793337	C	A	18	74126102	y	y	splicing	FBXO15(NM_001142958:exon7:c.786-1G>T;NM_152676:exon7:c.558-1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.558-1G>T;ENST00000583443:exon7:c.915-1G>T;ENST00000419743:exon7:c.786-1G>T;ENST00000581214:exon7:c.750-1G>T;ENST00000579517:exon3:c.4-1G>T)	.	.	0.999908871148168	0.828
18	71793337	C	G	18	74126102	y	y	splicing	FBXO15(NM_001142958:exon7:c.786-1G>C;NM_152676:exon7:c.558-1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.558-1G>C;ENST00000583443:exon7:c.915-1G>C;ENST00000419743:exon7:c.786-1G>C;ENST00000581214:exon7:c.750-1G>C;ENST00000579517:exon3:c.4-1G>C)	.	.	0.999833094168102	0.828
18	71793337	C	T	18	74126102	y	y	splicing	FBXO15(NM_001142958:exon7:c.786-1G>A;NM_152676:exon7:c.558-1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.558-1G>A;ENST00000583443:exon7:c.915-1G>A;ENST00000419743:exon7:c.786-1G>A;ENST00000581214:exon7:c.750-1G>A;ENST00000579517:exon3:c.4-1G>A)	.	.	0.999911215014999	0.846
18	71793338	T	A	18	74126103	y	y	splicing	FBXO15(NM_001142958:exon7:c.786-2A>T;NM_152676:exon7:c.558-2A>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.558-2A>T;ENST00000583443:exon7:c.915-2A>T;ENST00000419743:exon7:c.786-2A>T;ENST00000581214:exon7:c.750-2A>T;ENST00000579517:exon3:c.4-2A>T)	.	.	0.999891915057543	0.824
18	71793338	T	C	18	74126103	y	y	splicing	FBXO15(NM_001142958:exon7:c.786-2A>G;NM_152676:exon7:c.558-2A>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.558-2A>G;ENST00000583443:exon7:c.915-2A>G;ENST00000419743:exon7:c.786-2A>G;ENST00000581214:exon7:c.750-2A>G;ENST00000579517:exon3:c.4-2A>G)	.	.	0.999802041258096	0.82
18	71793338	T	G	18	74126103	y	y	splicing	FBXO15(NM_001142958:exon7:c.786-2A>C;NM_152676:exon7:c.558-2A>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon7:c.558-2A>C;ENST00000583443:exon7:c.915-2A>C;ENST00000419743:exon7:c.786-2A>C;ENST00000581214:exon7:c.750-2A>C;ENST00000579517:exon3:c.4-2A>C)	.	.	0.999802041258096	0.82
18	71793339	T	A	18	74126104	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.2512286366518E-5	0.02
18	71793339	T	C	18	74126104	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00476013619602448	0.176
18	71793339	T	G	18	74126104	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.13279685445086E-4	0.05
18	71793340	T	A	18	74126105	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.84552120202587E-4	0.05
18	71793340	T	C	18	74126105	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.8254291921827E-4	0.14
18	71793340	T	G	18	74126105	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0221077896461178	0.124
18	71793341	G	A	18	74126106	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00197684673337314	0.13
18	71793341	G	C	18	74126106	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.43832348921162	0.31
18	71793341	G	T	18	74126106	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.461758395619444	0.304
18	71793342	A	C	18	74126107	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.589094100892241	0.626
18	71793342	A	G	18	74126107	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.81918724802341E-5	0.04
18	71793342	A	T	18	74126107	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.535040610536081	0.638
18	71793343	A	C	18	74126108	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0491322193952583	0.528
18	71793343	A	G	18	74126108	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.96761623544068E-4	0.07
18	71793343	A	T	18	74126108	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0632574032777575	0.522
18	71793344	C	A	18	74126109	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.2362622635128E-4	0.042
18	71793344	C	G	18	74126109	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.2362622635128E-4	0.026
18	71793344	C	T	18	74126109	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00762372604932013	0.112
18	71793345	G	A	18	74126110	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.34106740471146E-5	0.024
18	71793345	G	C	18	74126110	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.970947066070052	0.67
18	71793345	G	T	18	74126110	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.970947066070052	0.668
18	71793346	T	A	18	74126111	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.61642535959979E-5	0.062
18	71793346	T	C	18	74126111	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.994903958644863	0.804
18	71793346	T	G	18	74126111	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.61642535959979E-5	0.05
18	71793347	T	A	18	74126112	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.66910171725583E-5	0.062
18	71793347	T	C	18	74126112	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.19966824145742E-5	0.05
18	71793347	T	G	18	74126112	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.89560133342457E-5	0.028
18	71793348	A	C	18	74126113	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.989745686501603	0.936
18	71793348	A	G	18	74126113	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0175671087071538	0.152
18	71793348	A	T	18	74126113	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.567295842089791	0.624
18	71796632	G	A	18	74129397	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.5364181533214E-5	0.0
18	71796632	G	C	18	74129397	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.27456659313109E-5	0.0
18	71796632	G	T	18	74129397	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.5364181533214E-5	0.0
18	71796633	T	A	18	74129398	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.15267776820636E-5	0.0
18	71796633	T	C	18	74129398	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.91564032431422E-5	0.002
18	71796633	T	G	18	74129398	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.91564032431422E-5	0.0
18	71796634	A	C	18	74129399	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0110179747103083	0.15
18	71796634	A	G	18	74129399	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0925633610879404	0.224
18	71796634	A	T	18	74129399	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0187436313266395	0.232
18	71796635	C	A	18	74129400	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.869073998619522	0.632
18	71796635	C	G	18	74129400	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.907648573201104	0.834
18	71796635	C	T	18	74129400	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.965698861626893	0.802
18	71796636	T	A	18	74129401	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.210869048929099	0.26
18	71796636	T	C	18	74129401	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0840607691288996	0.276
18	71796636	T	G	18	74129401	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0982772628169575	0.272
18	71796637	T	A	18	74129402	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.853745481430532	0.564
18	71796637	T	C	18	74129402	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00132208915220849	0.032
18	71796637	T	G	18	74129402	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.8332623827649	0.568
18	71796638	A	C	18	74129403	y	y	splicing	FBXO15(NM_001142958:exon6:c.785+2T>G;NM_152676:exon6:c.557+2T>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.557+2T>G;ENST00000583443:exon6:c.914+2T>G;ENST00000419743:exon6:c.785+2T>G;ENST00000581214:exon6:c.749+2T>G;ENST00000579517:exon2:c.3+2T>G)	.	.	0.999946188727699	0.944
18	71796638	A	G	18	74129403	y	y	splicing	FBXO15(NM_001142958:exon6:c.785+2T>C;NM_152676:exon6:c.557+2T>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.557+2T>C;ENST00000583443:exon6:c.914+2T>C;ENST00000419743:exon6:c.785+2T>C;ENST00000581214:exon6:c.749+2T>C;ENST00000579517:exon2:c.3+2T>C)	.	.	0.961956094029623	0.626
18	71796638	A	T	18	74129403	y	y	splicing	FBXO15(NM_001142958:exon6:c.785+2T>A;NM_152676:exon6:c.557+2T>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.557+2T>A;ENST00000583443:exon6:c.914+2T>A;ENST00000419743:exon6:c.785+2T>A;ENST00000581214:exon6:c.749+2T>A;ENST00000579517:exon2:c.3+2T>A)	.	.	0.999946188727699	0.948
18	71796639	C	A	18	74129404	y	y	splicing	FBXO15(NM_001142958:exon6:c.785+1G>T;NM_152676:exon6:c.557+1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.557+1G>T;ENST00000583443:exon6:c.914+1G>T;ENST00000419743:exon6:c.785+1G>T;ENST00000581214:exon6:c.749+1G>T;ENST00000579517:exon2:c.3+1G>T)	.	.	0.999938990645747	0.934
18	71796639	C	G	18	74129404	y	y	splicing	FBXO15(NM_001142958:exon6:c.785+1G>C;NM_152676:exon6:c.557+1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.557+1G>C;ENST00000583443:exon6:c.914+1G>C;ENST00000419743:exon6:c.785+1G>C;ENST00000581214:exon6:c.749+1G>C;ENST00000579517:exon2:c.3+1G>C)	.	.	0.999938990645747	0.92
18	71796639	C	T	18	74129404	y	y	splicing	FBXO15(NM_001142958:exon6:c.785+1G>A;NM_152676:exon6:c.557+1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.557+1G>A;ENST00000583443:exon6:c.914+1G>A;ENST00000419743:exon6:c.785+1G>A;ENST00000581214:exon6:c.749+1G>A;ENST00000579517:exon2:c.3+1G>A)	.	.	0.999938990645747	0.938
18	71796640	C	A	18	74129405	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.G557T:p.R186I;FBXO15:NM_001142958:exon5:c.G785T:p.R262I;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.G785T:p.R262I;ENSG00000141665:ENST00000269500:exon5:c.G557T:p.R186I;	0.994426090901928	0.884
18	71796640	C	G	18	74129405	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.G557C:p.R186T;FBXO15:NM_001142958:exon5:c.G785C:p.R262T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.G785C:p.R262T;ENSG00000141665:ENST00000269500:exon5:c.G557C:p.R186T;	0.899401483776137	0.568
18	71796640	C	T	18	74129405	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.G557A:p.R186K;FBXO15:NM_001142958:exon5:c.G785A:p.R262K;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.G785A:p.R262K;ENSG00000141665:ENST00000269500:exon5:c.G557A:p.R186K;	0.999791489647495	0.852
18	71796641	T	A	18	74129406	y	y	exonic	FBXO15	stopgain SNV	FBXO15:NM_152676:exon5:c.A556T:p.R186X;FBXO15:NM_001142958:exon5:c.A784T:p.R262X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000419743:exon5:c.A784T:p.R262X;ENSG00000141665:ENST00000269500:exon5:c.A556T:p.R186X;	0.353595951751692	0.522
18	71796641	T	C	18	74129406	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.A556G:p.R186G;FBXO15:NM_001142958:exon5:c.A784G:p.R262G;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.A784G:p.R262G;ENSG00000141665:ENST00000269500:exon5:c.A556G:p.R186G;	0.0292041252380615	0.292
18	71796641	T	G	18	74129406	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon5:c.A556C:p.R186R;FBXO15:NM_001142958:exon5:c.A784C:p.R262R;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.A784C:p.R262R;ENSG00000141665:ENST00000269500:exon5:c.A556C:p.R186R;	0.0203795914145275	0.48
18	71796642	A	C	18	74129407	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.T555G:p.H185Q;FBXO15:NM_001142958:exon5:c.T783G:p.H261Q;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.T783G:p.H261Q;ENSG00000141665:ENST00000269500:exon5:c.T555G:p.H185Q;	3.84819920891601E-5	0.008
18	71796642	A	G	18	74129407	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon5:c.T555C:p.H185H;FBXO15:NM_001142958:exon5:c.T783C:p.H261H;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.T783C:p.H261H;ENSG00000141665:ENST00000269500:exon5:c.T555C:p.H185H;	2.20270172797564E-5	0.0
18	71796642	A	T	18	74129407	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.T555A:p.H185Q;FBXO15:NM_001142958:exon5:c.T783A:p.H261Q;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.T783A:p.H261Q;ENSG00000141665:ENST00000269500:exon5:c.T555A:p.H185Q;	2.20270172797564E-5	0.0
18	71796848	T	A	18	74129613	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.A349T:p.I117L;FBXO15:NM_001142958:exon5:c.A577T:p.I193L;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.A577T:p.I193L;ENSG00000141665:ENST00000269500:exon5:c.A349T:p.I117L;	8.17589429824239E-6	0.006
18	71796848	T	C	18	74129613	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.A349G:p.I117V;FBXO15:NM_001142958:exon5:c.A577G:p.I193V;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.A577G:p.I193V;ENSG00000141665:ENST00000269500:exon5:c.A349G:p.I117V;	4.23936553570915E-5	0.15
18	71796848	T	G	18	74129613	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.A349C:p.I117L;FBXO15:NM_001142958:exon5:c.A577C:p.I193L;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.A577C:p.I193L;ENSG00000141665:ENST00000269500:exon5:c.A349C:p.I117L;	1.58773634871997E-5	0.012
18	71796849	T	A	18	74129614	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.A348T:p.R116S;FBXO15:NM_001142958:exon5:c.A576T:p.R192S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.A576T:p.R192S;ENSG00000141665:ENST00000269500:exon5:c.A348T:p.R116S;	8.76285625141776E-4	0.016
18	71796849	T	C	18	74129614	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon5:c.A348G:p.R116R;FBXO15:NM_001142958:exon5:c.A576G:p.R192R;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.A576G:p.R192R;ENSG00000141665:ENST00000269500:exon5:c.A348G:p.R116R;	1.40028861715831E-5	0.0
18	71796849	T	G	18	74129614	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon5:c.A348C:p.R116S;FBXO15:NM_001142958:exon5:c.A576C:p.R192S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon5:c.A576C:p.R192S;ENSG00000141665:ENST00000269500:exon5:c.A348C:p.R116S;	4.47377560996101E-4	0.022
18	71796850	C	A	18	74129615	y	y	splicing	FBXO15(NM_001142958:exon6:c.576-1G>T;NM_152676:exon6:c.348-1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.348-1G>T;ENST00000583443:exon6:c.705-1G>T;ENST00000419743:exon6:c.576-1G>T;ENST00000581214:exon6:c.540-1G>T;ENST00000585174:exon7:c.721-1G>T)	.	.	0.999978326551903	0.748
18	71796850	C	G	18	74129615	y	y	splicing	FBXO15(NM_001142958:exon6:c.576-1G>C;NM_152676:exon6:c.348-1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.348-1G>C;ENST00000583443:exon6:c.705-1G>C;ENST00000419743:exon6:c.576-1G>C;ENST00000581214:exon6:c.540-1G>C;ENST00000585174:exon7:c.721-1G>C)	.	.	0.999978326551903	0.748
18	71796850	C	T	18	74129615	y	y	splicing	FBXO15(NM_001142958:exon6:c.576-1G>A;NM_152676:exon6:c.348-1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.348-1G>A;ENST00000583443:exon6:c.705-1G>A;ENST00000419743:exon6:c.576-1G>A;ENST00000581214:exon6:c.540-1G>A;ENST00000585174:exon7:c.721-1G>A)	.	.	0.999978326551903	0.75
18	71796851	T	A	18	74129616	y	y	splicing	FBXO15(NM_001142958:exon6:c.576-2A>T;NM_152676:exon6:c.348-2A>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.348-2A>T;ENST00000583443:exon6:c.705-2A>T;ENST00000419743:exon6:c.576-2A>T;ENST00000581214:exon6:c.540-2A>T;ENST00000585174:exon7:c.721-2A>T)	.	.	0.999989378869813	0.758
18	71796851	T	C	18	74129616	y	y	splicing	FBXO15(NM_001142958:exon6:c.576-2A>G;NM_152676:exon6:c.348-2A>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.348-2A>G;ENST00000583443:exon6:c.705-2A>G;ENST00000419743:exon6:c.576-2A>G;ENST00000581214:exon6:c.540-2A>G;ENST00000585174:exon7:c.721-2A>G)	.	.	0.999989378869813	0.76
18	71796851	T	G	18	74129616	y	y	splicing	FBXO15(NM_001142958:exon6:c.576-2A>C;NM_152676:exon6:c.348-2A>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon6:c.348-2A>C;ENST00000583443:exon6:c.705-2A>C;ENST00000419743:exon6:c.576-2A>C;ENST00000581214:exon6:c.540-2A>C;ENST00000585174:exon7:c.721-2A>C)	.	.	0.999989378869813	0.76
18	71796852	G	A	18	74129617	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.37079332359755E-4	0.082
18	71796852	G	C	18	74129617	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.988639685433555	0.866
18	71796852	G	T	18	74129617	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.669472482468086	0.498
18	71796853	G	A	18	74129618	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.30534701762462E-5	0.002
18	71796853	G	C	18	74129618	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.7455550544366E-5	0.014
18	71796853	G	T	18	74129618	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.27537449694753E-5	0.03
18	71796854	A	C	18	74129619	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.64009441972374E-4	0.092
18	71796854	A	G	18	74129619	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.91157627042569E-5	0.004
18	71796854	A	T	18	74129619	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.97006693330659E-4	0.036
18	71796855	G	A	18	74129620	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.07750467725036E-5	0.016
18	71796855	G	C	18	74129620	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.60605824878972E-4	0.106
18	71796855	G	T	18	74129620	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.60243354266198E-4	0.092
18	71796856	A	C	18	74129621	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.28574822276657E-4	0.082
18	71796856	A	G	18	74129621	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.18634773147927E-5	0.006
18	71796856	A	T	18	74129621	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00148039225286334	0.104
18	71796857	A	C	18	74129622	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.67485675182506E-4	0.038
18	71796857	A	G	18	74129622	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.30081568572069E-5	0.002
18	71796857	A	T	18	74129622	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.33107176921222E-4	0.05
18	71796858	A	C	18	74129623	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.68430926135175E-4	0.072
18	71796858	A	G	18	74129623	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.01776043508767E-5	0.002
18	71796858	A	T	18	74129623	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.05779138820651E-4	0.066
18	71796859	G	A	18	74129624	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.70094159336762E-5	0.006
18	71796859	G	C	18	74129624	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.6218649014442E-5	0.006
18	71796859	G	T	18	74129624	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.73196471940037E-5	0.01
18	71796860	A	C	18	74129625	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.71735098075367E-4	0.032
18	71796860	A	G	18	74129625	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.27580068903678E-5	0.0
18	71796860	A	T	18	74129625	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.95990543248776E-4	0.11
18	71796861	A	C	18	74129626	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.3242379239602E-4	0.12
18	71796861	A	G	18	74129626	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.03149857296492E-4	0.006
18	71796861	A	T	18	74129626	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.68843602677727E-4	0.11
18	71797643	C	A	18	74130408	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.63884426020773E-4	0.006
18	71797643	C	G	18	74130408	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.21734256022364E-4	0.012
18	71797643	C	T	18	74130408	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.65436964348971E-4	0.058
18	71797644	T	A	18	74130409	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.12961071540971E-4	0.048
18	71797644	T	C	18	74130409	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.28152793315417E-4	0.006
18	71797644	T	G	18	74130409	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.30809609056381E-4	0.012
18	71797645	G	A	18	74130410	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.47809872342546E-5	0.068
18	71797645	G	C	18	74130410	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.78692763066642E-5	0.018
18	71797645	G	T	18	74130410	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.43488690596601E-4	0.02
18	71797646	C	A	18	74130411	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.986411466310251	0.596
18	71797646	C	G	18	74130411	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.988357295230633	0.494
18	71797646	C	T	18	74130411	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.984373143756216	0.51
18	71797647	G	A	18	74130412	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.16269434711594E-4	0.01
18	71797647	G	C	18	74130412	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.59006890412652E-5	0.004
18	71797647	G	T	18	74130412	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.85033745313473E-5	0.006
18	71797648	T	A	18	74130413	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.980966510143687	0.732
18	71797648	T	C	18	74130413	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00809575438892743	0.318
18	71797648	T	G	18	74130413	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.957250929457258	0.726
18	71797649	A	C	18	74130414	y	y	splicing	FBXO15(NM_001142958:exon5:c.575+2T>G;NM_152676:exon5:c.347+2T>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.347+2T>G;ENST00000583443:exon5:c.704+2T>G;ENST00000419743:exon5:c.575+2T>G;ENST00000581214:exon5:c.539+2T>G;ENST00000585174:exon6:c.720+2T>G)	.	.	0.999988247793601	0.932
18	71797649	A	G	18	74130414	y	y	splicing	FBXO15(NM_001142958:exon5:c.575+2T>C;NM_152676:exon5:c.347+2T>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.347+2T>C;ENST00000583443:exon5:c.704+2T>C;ENST00000419743:exon5:c.575+2T>C;ENST00000581214:exon5:c.539+2T>C;ENST00000585174:exon6:c.720+2T>C)	.	.	0.99340600729494	0.704
18	71797649	A	T	18	74130414	y	y	splicing	FBXO15(NM_001142958:exon5:c.575+2T>A;NM_152676:exon5:c.347+2T>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.347+2T>A;ENST00000583443:exon5:c.704+2T>A;ENST00000419743:exon5:c.575+2T>A;ENST00000581214:exon5:c.539+2T>A;ENST00000585174:exon6:c.720+2T>A)	.	.	0.999988247793601	0.932
18	71797650	C	A	18	74130415	y	y	splicing	FBXO15(NM_001142958:exon5:c.575+1G>T;NM_152676:exon5:c.347+1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.347+1G>T;ENST00000583443:exon5:c.704+1G>T;ENST00000419743:exon5:c.575+1G>T;ENST00000581214:exon5:c.539+1G>T;ENST00000585174:exon6:c.720+1G>T)	.	.	0.999989263107695	0.936
18	71797650	C	G	18	74130415	y	y	splicing	FBXO15(NM_001142958:exon5:c.575+1G>C;NM_152676:exon5:c.347+1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.347+1G>C;ENST00000583443:exon5:c.704+1G>C;ENST00000419743:exon5:c.575+1G>C;ENST00000581214:exon5:c.539+1G>C;ENST00000585174:exon6:c.720+1G>C)	.	.	0.999989263107695	0.936
18	71797650	C	T	18	74130415	y	y	splicing	FBXO15(NM_001142958:exon5:c.575+1G>A;NM_152676:exon5:c.347+1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.347+1G>A;ENST00000583443:exon5:c.704+1G>A;ENST00000419743:exon5:c.575+1G>A;ENST00000581214:exon5:c.539+1G>A;ENST00000585174:exon6:c.720+1G>A)	.	.	0.999989263107695	0.938
18	71797651	C	A	18	74130416	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.G347T:p.R116I;FBXO15:NM_001142958:exon4:c.G575T:p.R192I;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon4:c.G575T:p.R192I;ENSG00000141665:ENST00000269500:exon4:c.G347T:p.R116I;	0.999987241526422	0.992
18	71797651	C	G	18	74130416	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.G347C:p.R116T;FBXO15:NM_001142958:exon4:c.G575C:p.R192T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon4:c.G575C:p.R192T;ENSG00000141665:ENST00000269500:exon4:c.G347C:p.R116T;	0.999993057351309	1.0
18	71797651	C	T	18	74130416	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.G347A:p.R116K;FBXO15:NM_001142958:exon4:c.G575A:p.R192K;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon4:c.G575A:p.R192K;ENSG00000141665:ENST00000269500:exon4:c.G347A:p.R116K;	0.999853128338125	0.994
18	71797652	T	A	18	74130417	y	y	exonic	FBXO15	stopgain SNV	FBXO15:NM_152676:exon4:c.A346T:p.R116X;FBXO15:NM_001142958:exon4:c.A574T:p.R192X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000419743:exon4:c.A574T:p.R192X;ENSG00000141665:ENST00000269500:exon4:c.A346T:p.R116X;	0.999689119675459	0.988
18	71797652	T	C	18	74130417	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.A346G:p.R116G;FBXO15:NM_001142958:exon4:c.A574G:p.R192G;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon4:c.A574G:p.R192G;ENSG00000141665:ENST00000269500:exon4:c.A346G:p.R116G;	0.998333136462305	0.982
18	71797652	T	G	18	74130417	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon4:c.A346C:p.R116R;FBXO15:NM_001142958:exon4:c.A574C:p.R192R;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon4:c.A574C:p.R192R;ENSG00000141665:ENST00000269500:exon4:c.A346C:p.R116R;	0.998629338428544	0.962
18	71797653	G	A	18	74130418	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon4:c.C345T:p.L115L;FBXO15:NM_001142958:exon4:c.C573T:p.L191L;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon4:c.C573T:p.L191L;ENSG00000141665:ENST00000269500:exon4:c.C345T:p.L115L;	0.195155724592115	0.674
18	71797653	G	C	18	74130418	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon4:c.C345G:p.L115L;FBXO15:NM_001142958:exon4:c.C573G:p.L191L;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon4:c.C573G:p.L191L;ENSG00000141665:ENST00000269500:exon4:c.C345G:p.L115L;	0.00168967139305185	0.072
18	71797653	G	T	18	74130418	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon4:c.C345A:p.L115L;FBXO15:NM_001142958:exon4:c.C573A:p.L191L;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon4:c.C573A:p.L191L;ENSG00000141665:ENST00000269500:exon4:c.C345A:p.L115L;	0.00173808645156347	0.076
18	71797892	A	C	18	74130657	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.T106G:p.F36V;FBXO15:NM_001142958:exon4:c.T334G:p.F112V;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon3:c.T223G:p.F75V;ENSG00000141665:ENST00000419743:exon4:c.T334G:p.F112V;ENSG00000141665:ENST00000269500:exon4:c.T106G:p.F36V;	2.17772599120227E-4	0.004
18	71797892	A	G	18	74130657	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.T106C:p.F36L;FBXO15:NM_001142958:exon4:c.T334C:p.F112L;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon3:c.T223C:p.F75L;ENSG00000141665:ENST00000419743:exon4:c.T334C:p.F112L;ENSG00000141665:ENST00000269500:exon4:c.T106C:p.F36L;	3.49014263261784E-4	0.046
18	71797892	A	T	18	74130657	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.T106A:p.F36I;FBXO15:NM_001142958:exon4:c.T334A:p.F112I;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon3:c.T223A:p.F75I;ENSG00000141665:ENST00000419743:exon4:c.T334A:p.F112I;ENSG00000141665:ENST00000269500:exon4:c.T106A:p.F36I;	3.52362961192815E-4	0.034
18	71797893	A	C	18	74130658	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.T105G:p.N35K;FBXO15:NM_001142958:exon4:c.T333G:p.N111K;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon3:c.T222G:p.N74K;ENSG00000141665:ENST00000419743:exon4:c.T333G:p.N111K;ENSG00000141665:ENST00000269500:exon4:c.T105G:p.N35K;	2.34624157810221E-4	0.118
18	71797893	A	G	18	74130658	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon4:c.T105C:p.N35N;FBXO15:NM_001142958:exon4:c.T333C:p.N111N;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000582526:exon3:c.T222C:p.N74N;ENSG00000141665:ENST00000419743:exon4:c.T333C:p.N111N;ENSG00000141665:ENST00000269500:exon4:c.T105C:p.N35N;	2.89394789230503E-4	0.014
18	71797893	A	T	18	74130658	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon4:c.T105A:p.N35K;FBXO15:NM_001142958:exon4:c.T333A:p.N111K;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon3:c.T222A:p.N74K;ENSG00000141665:ENST00000419743:exon4:c.T333A:p.N111K;ENSG00000141665:ENST00000269500:exon4:c.T105A:p.N35K;	1.27424916196722E-4	0.002
18	71797894	C	A	18	74130659	y	y	splicing	FBXO15(NM_001142958:exon5:c.333-1G>T;NM_152676:exon5:c.105-1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.105-1G>T;ENST00000583443:exon5:c.462-1G>T;ENST00000419743:exon5:c.333-1G>T;ENST00000581214:exon5:c.297-1G>T;ENST00000585174:exon6:c.478-1G>T;ENST00000582526:exon4:c.222-1G>T;ENST00000580552:exon7:c.468-1G>T)	.	.	0.999981760802075	0.94
18	71797894	C	G	18	74130659	y	y	splicing	FBXO15(NM_001142958:exon5:c.333-1G>C;NM_152676:exon5:c.105-1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.105-1G>C;ENST00000583443:exon5:c.462-1G>C;ENST00000419743:exon5:c.333-1G>C;ENST00000581214:exon5:c.297-1G>C;ENST00000585174:exon6:c.478-1G>C;ENST00000582526:exon4:c.222-1G>C;ENST00000580552:exon7:c.468-1G>C)	.	.	0.999981760802075	0.944
18	71797894	C	T	18	74130659	y	y	splicing	FBXO15(NM_001142958:exon5:c.333-1G>A;NM_152676:exon5:c.105-1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.105-1G>A;ENST00000583443:exon5:c.462-1G>A;ENST00000419743:exon5:c.333-1G>A;ENST00000581214:exon5:c.297-1G>A;ENST00000585174:exon6:c.478-1G>A;ENST00000582526:exon4:c.222-1G>A;ENST00000580552:exon7:c.468-1G>A)	.	.	0.999981760802075	0.942
18	71797895	T	A	18	74130660	y	y	splicing	FBXO15(NM_001142958:exon5:c.333-2A>T;NM_152676:exon5:c.105-2A>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.105-2A>T;ENST00000583443:exon5:c.462-2A>T;ENST00000419743:exon5:c.333-2A>T;ENST00000581214:exon5:c.297-2A>T;ENST00000585174:exon6:c.478-2A>T;ENST00000582526:exon4:c.222-2A>T;ENST00000580552:exon7:c.468-2A>T)	.	.	0.999989917668626	0.926
18	71797895	T	C	18	74130660	y	y	splicing	FBXO15(NM_001142958:exon5:c.333-2A>G;NM_152676:exon5:c.105-2A>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.105-2A>G;ENST00000583443:exon5:c.462-2A>G;ENST00000419743:exon5:c.333-2A>G;ENST00000581214:exon5:c.297-2A>G;ENST00000585174:exon6:c.478-2A>G;ENST00000582526:exon4:c.222-2A>G;ENST00000580552:exon7:c.468-2A>G)	.	.	0.999989917668626	0.926
18	71797895	T	G	18	74130660	y	y	splicing	FBXO15(NM_001142958:exon5:c.333-2A>C;NM_152676:exon5:c.105-2A>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon5:c.105-2A>C;ENST00000583443:exon5:c.462-2A>C;ENST00000419743:exon5:c.333-2A>C;ENST00000581214:exon5:c.297-2A>C;ENST00000585174:exon6:c.478-2A>C;ENST00000582526:exon4:c.222-2A>C;ENST00000580552:exon7:c.468-2A>C)	.	.	0.999989917668626	0.926
18	71797896	G	A	18	74130661	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00177736419225684	0.152
18	71797896	G	C	18	74130661	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999331197224971	0.844
18	71797896	G	T	18	74130661	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.232319820375393	0.366
18	71797897	G	A	18	74130662	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.58035292727843E-5	0.002
18	71797897	G	C	18	74130662	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.09971788070124E-5	0.0
18	71797897	G	T	18	74130662	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.58035292727843E-5	0.002
18	71797898	A	C	18	74130663	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.50058359007599E-4	0.03
18	71797898	A	G	18	74130663	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.30548976568567E-5	0.006
18	71797898	A	T	18	74130663	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.36549446559728E-4	0.02
18	71797899	G	A	18	74130664	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.62030124028256E-5	0.038
18	71797899	G	C	18	74130664	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.36836187908311E-4	0.122
18	71797899	G	T	18	74130664	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.41745470670447E-4	0.13
18	71797900	G	A	18	74130665	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.31192090187763E-5	0.034
18	71797900	G	C	18	74130665	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.01527096100967E-4	0.116
18	71797900	G	T	18	74130665	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.00308367041808E-4	0.13
18	71797901	G	A	18	74130666	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.6602694648934E-5	0.024
18	71797901	G	C	18	74130666	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.20261916310498E-4	0.002
18	71797901	G	T	18	74130666	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.16230988712162E-4	0.004
18	71797902	A	C	18	74130667	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.0521827829244E-5	0.016
18	71797902	A	G	18	74130667	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.73721873873049E-5	0.0
18	71797902	A	T	18	74130667	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.0521827829244E-5	0.01
18	71797903	A	C	18	74130668	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.09774308194121E-5	0.048
18	71797903	A	G	18	74130668	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.70519839959704E-5	0.0
18	71797903	A	T	18	74130668	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.9034879669066E-5	0.026
18	71797904	A	C	18	74130669	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.34602052279045E-5	0.082
18	71797904	A	G	18	74130669	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.09704914785648E-5	0.008
18	71797904	A	T	18	74130669	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.23221486390308E-4	0.098
18	71797905	A	C	18	74130670	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.66245918862483E-5	0.012
18	71797905	A	G	18	74130670	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.28288638234112E-5	0.0
18	71797905	A	T	18	74130670	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.23840289728513E-4	0.058
18	71797934	T	A	18	74130699	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.86590924201456E-5	0.014
18	71797934	T	C	18	74130699	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.84397551808994E-5	0.01
18	71797934	T	G	18	74130699	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.84397551808994E-5	0.012
18	71797935	C	A	18	74130700	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.84449517638164E-5	0.012
18	71797935	C	G	18	74130700	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.84449517638164E-5	0.012
18	71797935	C	T	18	74130700	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.84449517638164E-5	0.02
18	71797936	A	C	18	74130701	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.16979026867853E-4	0.014
18	71797936	A	G	18	74130701	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.16979026867853E-4	0.014
18	71797936	A	T	18	74130701	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.16979026867853E-4	0.01
18	71797937	C	A	18	74130702	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.2358802390823E-5	0.0
18	71797937	C	G	18	74130702	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.2358802390823E-5	0.0
18	71797937	C	T	18	74130702	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.41256482875619E-5	0.0
18	71797938	C	A	18	74130703	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.99153316237132E-5	0.0
18	71797938	C	G	18	74130703	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.99153316237132E-5	0.0
18	71797938	C	T	18	74130703	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.99153316237132E-5	0.0
18	71797939	T	A	18	74130704	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.36340088948343E-5	0.002
18	71797939	T	C	18	74130704	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.36340088948343E-5	0.0
18	71797939	T	G	18	74130704	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.36340088948343E-5	0.0
18	71797940	A	C	18	74130705	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.198+2T>G)	.	.	4.6857887130806E-5	0.0
18	71797940	A	G	18	74130705	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.198+2T>C)	.	.	4.6857887130806E-5	0.0
18	71797940	A	T	18	74130705	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.198+2T>A)	.	.	4.6857887130806E-5	0.0
18	71797941	C	A	18	74130706	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.198+1G>T)	.	.	8.71037690926497E-5	0.002
18	71797941	C	G	18	74130706	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.198+1G>C)	.	.	8.71037690926497E-5	0.0
18	71797941	C	T	18	74130706	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.198+1G>A)	.	.	6.51383879749987E-5	0.006
18	71797942	C	A	18	74130707	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	1.74480241737554E-4	0.002
18	71797942	C	G	18	74130707	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	1.74480241737554E-4	0.002
18	71797942	C	T	18	74130707	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	1.74480241737554E-4	0.002
18	71797943	T	A	18	74130708	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	6.99263190704948E-5	0.0
18	71797943	T	C	18	74130708	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	6.99263190704948E-5	0.0
18	71797943	T	G	18	74130708	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	6.99263190704948E-5	0.0
18	71797944	T	A	18	74130709	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	4.02466957729168E-5	0.032
18	71797944	T	C	18	74130709	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	3.72992662986781E-5	0.032
18	71797944	T	G	18	74130709	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	3.72992662986781E-5	0.032
18	71798033	A	C	18	74130798	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	6.89925739660516E-5	0.008
18	71798033	A	G	18	74130798	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	6.89925739660516E-5	0.006
18	71798033	A	T	18	74130798	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	6.89925739660516E-5	0.042
18	71798034	T	A	18	74130799	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	1.28787216154889E-4	0.008
18	71798034	T	C	18	74130799	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	5.08291490468438E-5	0.006
18	71798034	T	G	18	74130799	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	unknown	UNKNOWN	1.12581597765867E-4	0.0
18	71798035	C	A	18	74130800	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.106-1G>T)	.	.	4.6857887130806E-5	0.004
18	71798035	C	G	18	74130800	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.106-1G>C)	.	.	4.6857887130806E-5	0.004
18	71798035	C	T	18	74130800	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.106-1G>A)	.	.	4.6857887130806E-5	0.004
18	71798036	T	A	18	74130801	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.106-2A>T)	.	.	1.86764315709017E-5	0.0
18	71798036	T	C	18	74130801	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.106-2A>G)	.	.	1.86764315709017E-5	0.0
18	71798036	T	G	18	74130801	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000578399:exon3:c.106-2A>C)	.	.	1.86764315709017E-5	0.0
18	71798037	G	A	18	74130802	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.68952365742707E-5	0.002
18	71798037	G	C	18	74130802	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.68952365742707E-5	0.002
18	71798037	G	T	18	74130802	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.68952365742707E-5	0.002
18	71798038	T	A	18	74130803	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.65602961808381E-4	0.028
18	71798038	T	C	18	74130803	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.0691902098385E-4	0.03
18	71798038	T	G	18	74130803	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.65602961808381E-4	0.028
18	71798039	T	A	18	74130804	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.86075475573093E-5	0.004
18	71798039	T	C	18	74130804	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.83708300348738E-5	0.008
18	71798039	T	G	18	74130804	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.83708300348738E-5	0.008
18	71798040	A	C	18	74130805	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.36389531769141E-5	0.0
18	71798040	A	G	18	74130805	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.36389531769141E-5	0.0
18	71798040	A	T	18	74130805	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.10673763910407E-5	0.0
18	71798041	A	C	18	74130806	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.65778582306901E-5	0.0
18	71798041	A	G	18	74130806	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.65778582306901E-5	0.002
18	71798041	A	T	18	74130806	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.9469183429777E-5	0.0
18	71798042	A	C	18	74130807	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7586829694842E-5	0.0
18	71798042	A	G	18	74130807	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7586829694842E-5	0.0
18	71798042	A	T	18	74130807	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7586829694842E-5	0.0
18	71798043	G	A	18	74130808	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.30945796578933E-5	0.0
18	71798043	G	C	18	74130808	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.30945796578933E-5	0.0
18	71798043	G	T	18	74130808	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.30945796578933E-5	0.0
18	71798044	T	A	18	74130809	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00131227968434435	0.012
18	71798044	T	C	18	74130809	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.81984393052081E-4	0.012
18	71798044	T	G	18	74130809	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.81984393052081E-4	0.012
18	71798045	G	A	18	74130810	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.45204556660269E-4	0.024
18	71798045	G	C	18	74130810	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.45204556660269E-4	0.024
18	71798045	G	T	18	74130810	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.45204556660269E-4	0.024
18	71798046	A	C	18	74130811	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.39529611572298E-5	0.008
18	71798046	A	G	18	74130811	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.39529611572298E-5	0.01
18	71798046	A	T	18	74130811	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.39529611572298E-5	0.008
18	71802989	C	A	18	74135754	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.23306769113685E-4	0.004
18	71802989	C	G	18	74135754	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.80300969600903E-4	0.006
18	71802989	C	T	18	74135754	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.75551200084958E-5	0.01
18	71802990	T	A	18	74135755	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.77744070040329E-4	0.06
18	71802990	T	C	18	74135755	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.34194625852274E-5	0.008
18	71802990	T	G	18	74135755	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.05425346636526E-4	0.024
18	71802991	G	A	18	74135756	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.17609544430558E-5	0.0
18	71802991	G	C	18	74135756	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.63204059573398E-5	0.012
18	71802991	G	T	18	74135756	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.17142791643453E-4	0.002
18	71802992	C	A	18	74135757	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999972169847784	0.998
18	71802992	C	G	18	74135757	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999706036602693	0.906
18	71802992	C	T	18	74135757	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999981972933344	0.998
18	71802993	T	A	18	74135758	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.997919295936099	0.934
18	71802993	T	C	18	74135758	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.993325996765719	0.896
18	71802993	T	G	18	74135758	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.958269167864994	0.752
18	71802994	T	A	18	74135759	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999851460663615	0.984
18	71802994	T	C	18	74135759	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.948355814016366	0.55
18	71802994	T	G	18	74135759	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999851460663615	0.948
18	71802995	A	C	18	74135760	y	y	splicing	FBXO15(NM_001142958:exon4:c.332+2T>G;NM_152676:exon4:c.104+2T>G)	.	.	splicing	ENSG00000141665(ENST00000269500:exon4:c.104+2T>G;ENST00000583443:exon4:c.461+2T>G;ENST00000419743:exon4:c.332+2T>G;ENST00000581214:exon4:c.296+2T>G;ENST00000578399:exon2:c.105+2T>G;ENST00000585174:exon5:c.477+2T>G;ENST00000582526:exon3:c.221+2T>G;ENST00000580552:exon6:c.467+2T>G)	.	.	0.999989917668626	0.926
18	71802995	A	G	18	74135760	y	y	splicing	FBXO15(NM_001142958:exon4:c.332+2T>C;NM_152676:exon4:c.104+2T>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon4:c.104+2T>C;ENST00000583443:exon4:c.461+2T>C;ENST00000419743:exon4:c.332+2T>C;ENST00000581214:exon4:c.296+2T>C;ENST00000578399:exon2:c.105+2T>C;ENST00000585174:exon5:c.477+2T>C;ENST00000582526:exon3:c.221+2T>C;ENST00000580552:exon6:c.467+2T>C)	.	.	0.988809971481602	0.634
18	71802995	A	T	18	74135760	y	y	splicing	FBXO15(NM_001142958:exon4:c.332+2T>A;NM_152676:exon4:c.104+2T>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon4:c.104+2T>A;ENST00000583443:exon4:c.461+2T>A;ENST00000419743:exon4:c.332+2T>A;ENST00000581214:exon4:c.296+2T>A;ENST00000578399:exon2:c.105+2T>A;ENST00000585174:exon5:c.477+2T>A;ENST00000582526:exon3:c.221+2T>A;ENST00000580552:exon6:c.467+2T>A)	.	.	0.999989917668626	0.876
18	71802996	C	A	18	74135761	y	y	splicing	FBXO15(NM_001142958:exon4:c.332+1G>T;NM_152676:exon4:c.104+1G>T)	.	.	splicing	ENSG00000141665(ENST00000269500:exon4:c.104+1G>T;ENST00000583443:exon4:c.461+1G>T;ENST00000419743:exon4:c.332+1G>T;ENST00000581214:exon4:c.296+1G>T;ENST00000578399:exon2:c.105+1G>T;ENST00000585174:exon5:c.477+1G>T;ENST00000582526:exon3:c.221+1G>T;ENST00000580552:exon6:c.467+1G>T)	.	.	0.999981760802075	0.942
18	71802996	C	G	18	74135761	y	y	splicing	FBXO15(NM_001142958:exon4:c.332+1G>C;NM_152676:exon4:c.104+1G>C)	.	.	splicing	ENSG00000141665(ENST00000269500:exon4:c.104+1G>C;ENST00000583443:exon4:c.461+1G>C;ENST00000419743:exon4:c.332+1G>C;ENST00000581214:exon4:c.296+1G>C;ENST00000578399:exon2:c.105+1G>C;ENST00000585174:exon5:c.477+1G>C;ENST00000582526:exon3:c.221+1G>C;ENST00000580552:exon6:c.467+1G>C)	.	.	0.999981760802075	0.944
18	71802996	C	T	18	74135761	y	y	splicing	FBXO15(NM_001142958:exon4:c.332+1G>A;NM_152676:exon4:c.104+1G>A)	.	.	splicing	ENSG00000141665(ENST00000269500:exon4:c.104+1G>A;ENST00000583443:exon4:c.461+1G>A;ENST00000419743:exon4:c.332+1G>A;ENST00000581214:exon4:c.296+1G>A;ENST00000578399:exon2:c.105+1G>A;ENST00000585174:exon5:c.477+1G>A;ENST00000582526:exon3:c.221+1G>A;ENST00000580552:exon6:c.467+1G>A)	.	.	0.999981760802075	0.942
18	71802997	T	A	18	74135762	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A104T:p.N35I;FBXO15:NM_001142958:exon3:c.A332T:p.N111I;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A221T:p.N74I;ENSG00000141665:ENST00000419743:exon3:c.A332T:p.N111I;ENSG00000141665:ENST00000269500:exon3:c.A104T:p.N35I;	0.0422189888354683	0.156
18	71802997	T	C	18	74135762	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A104G:p.N35S;FBXO15:NM_001142958:exon3:c.A332G:p.N111S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A221G:p.N74S;ENSG00000141665:ENST00000419743:exon3:c.A332G:p.N111S;ENSG00000141665:ENST00000269500:exon3:c.A104G:p.N35S;	3.50940333550084E-4	0.062
18	71802997	T	G	18	74135762	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A104C:p.N35T;FBXO15:NM_001142958:exon3:c.A332C:p.N111T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A221C:p.N74T;ENSG00000141665:ENST00000419743:exon3:c.A332C:p.N111T;ENSG00000141665:ENST00000269500:exon3:c.A104C:p.N35T;	0.0158836966036623	0.204
18	71802998	T	A	18	74135763	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A103T:p.N35Y;FBXO15:NM_001142958:exon3:c.A331T:p.N111Y;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A220T:p.N74Y;ENSG00000141665:ENST00000419743:exon3:c.A331T:p.N111Y;ENSG00000141665:ENST00000269500:exon3:c.A103T:p.N35Y;	0.999677355108078	0.996
18	71802998	T	C	18	74135763	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A103G:p.N35D;FBXO15:NM_001142958:exon3:c.A331G:p.N111D;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A220G:p.N74D;ENSG00000141665:ENST00000419743:exon3:c.A331G:p.N111D;ENSG00000141665:ENST00000269500:exon3:c.A103G:p.N35D;	0.958692254118592	0.69
18	71802998	T	G	18	74135763	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A103C:p.N35H;FBXO15:NM_001142958:exon3:c.A331C:p.N111H;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A220C:p.N74H;ENSG00000141665:ENST00000419743:exon3:c.A331C:p.N111H;ENSG00000141665:ENST00000269500:exon3:c.A103C:p.N35H;	0.853834625096019	0.696
18	71802999	G	A	18	74135764	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_152676:exon3:c.C102T:p.D34D;FBXO15:NM_001142958:exon3:c.C330T:p.D110D;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.C219T:p.D73D;ENSG00000141665:ENST00000419743:exon3:c.C330T:p.D110D;ENSG00000141665:ENST00000269500:exon3:c.C102T:p.D34D;	0.992115683232809	0.876
18	71802999	G	C	18	74135764	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.C102G:p.D34E;FBXO15:NM_001142958:exon3:c.C330G:p.D110E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.C219G:p.D73E;ENSG00000141665:ENST00000419743:exon3:c.C330G:p.D110E;ENSG00000141665:ENST00000269500:exon3:c.C102G:p.D34E;	0.0231893124795111	0.174
18	71802999	G	T	18	74135764	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.C102A:p.D34E;FBXO15:NM_001142958:exon3:c.C330A:p.D110E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.C219A:p.D73E;ENSG00000141665:ENST00000419743:exon3:c.C330A:p.D110E;ENSG00000141665:ENST00000269500:exon3:c.C102A:p.D34E;	0.0143868121196462	0.09
18	71803100	T	A	18	74135865	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A1T:p.M1L;FBXO15:NM_001142958:exon3:c.A229T:p.M77L;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A118T:p.M40L;ENSG00000141665:ENST00000419743:exon3:c.A229T:p.M77L;ENSG00000141665:ENST00000269500:exon3:c.A1T:p.M1L;	1.38627231298634E-4	0.012
18	71803100	T	C	18	74135865	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A1G:p.M1V;FBXO15:NM_001142958:exon3:c.A229G:p.M77V;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A118G:p.M40V;ENSG00000141665:ENST00000419743:exon3:c.A229G:p.M77V;ENSG00000141665:ENST00000269500:exon3:c.A1G:p.M1V;	2.23129908178906E-4	0.014
18	71803100	T	G	18	74135865	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_152676:exon3:c.A1C:p.M1L;FBXO15:NM_001142958:exon3:c.A229C:p.M77L;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A118C:p.M40L;ENSG00000141665:ENST00000419743:exon3:c.A229C:p.M77L;ENSG00000141665:ENST00000269500:exon3:c.A1C:p.M1L;	4.18693652448887E-4	0.018
18	71803101	T	A	18	74135866	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_001142958:exon3:c.A228T:p.G76G;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A117T:p.R39S;	4.77553684910039E-4	0.106
18	71803101	T	C	18	74135866	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_001142958:exon3:c.A228G:p.G76G;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A117G:p.R39R;ENSG00000141665:ENST00000419743:exon3:c.A228G:p.G76G;	7.6524537734939E-5	0.008
18	71803101	T	G	18	74135866	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_001142958:exon3:c.A228C:p.G76G;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000582526:exon2:c.A117C:p.R39S;	1.22375107409394E-4	0.044
18	71803102	C	A	18	74135867	y	y	splicing	FBXO15(NM_001142958:exon4:c.228-1G>T)	.	.	splicing	ENSG00000141665(ENST00000583443:exon4:c.357-1G>T;ENST00000419743:exon4:c.228-1G>T;ENST00000581214:exon4:c.192-1G>T;ENST00000585174:exon5:c.373-1G>T;ENST00000582526:exon3:c.117-1G>T;ENST00000580552:exon6:c.363-1G>T)	.	.	0.999974090184857	0.938
18	71803102	C	G	18	74135867	y	y	splicing	FBXO15(NM_001142958:exon4:c.228-1G>C)	.	.	splicing	ENSG00000141665(ENST00000583443:exon4:c.357-1G>C;ENST00000419743:exon4:c.228-1G>C;ENST00000581214:exon4:c.192-1G>C;ENST00000585174:exon5:c.373-1G>C;ENST00000582526:exon3:c.117-1G>C;ENST00000580552:exon6:c.363-1G>C)	.	.	0.999974090184857	0.938
18	71803102	C	T	18	74135867	y	y	splicing	FBXO15(NM_001142958:exon4:c.228-1G>A)	.	.	splicing	ENSG00000141665(ENST00000583443:exon4:c.357-1G>A;ENST00000419743:exon4:c.228-1G>A;ENST00000581214:exon4:c.192-1G>A;ENST00000585174:exon5:c.373-1G>A;ENST00000582526:exon3:c.117-1G>A;ENST00000580552:exon6:c.363-1G>A)	.	.	0.999985532734767	0.938
18	71803103	T	A	18	74135868	y	y	splicing	FBXO15(NM_001142958:exon4:c.228-2A>T)	.	.	splicing	ENSG00000141665(ENST00000583443:exon4:c.357-2A>T;ENST00000419743:exon4:c.228-2A>T;ENST00000581214:exon4:c.192-2A>T;ENST00000585174:exon5:c.373-2A>T;ENST00000582526:exon3:c.117-2A>T;ENST00000580552:exon6:c.363-2A>T)	.	.	0.999978952611685	0.928
18	71803103	T	C	18	74135868	y	y	splicing	FBXO15(NM_001142958:exon4:c.228-2A>G)	.	.	splicing	ENSG00000141665(ENST00000583443:exon4:c.357-2A>G;ENST00000419743:exon4:c.228-2A>G;ENST00000581214:exon4:c.192-2A>G;ENST00000585174:exon5:c.373-2A>G;ENST00000582526:exon3:c.117-2A>G;ENST00000580552:exon6:c.363-2A>G)	.	.	0.999970661931818	0.926
18	71803103	T	G	18	74135868	y	y	splicing	FBXO15(NM_001142958:exon4:c.228-2A>C)	.	.	splicing	ENSG00000141665(ENST00000583443:exon4:c.357-2A>C;ENST00000419743:exon4:c.228-2A>C;ENST00000581214:exon4:c.192-2A>C;ENST00000585174:exon5:c.373-2A>C;ENST00000582526:exon3:c.117-2A>C;ENST00000580552:exon6:c.363-2A>C)	.	.	0.999970661931818	0.926
18	71803104	G	A	18	74135869	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00275380794711584	0.082
18	71803104	G	C	18	74135869	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.99918987035345	0.842
18	71803104	G	T	18	74135869	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.377864515691744	0.464
18	71803105	C	A	18	74135870	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.52963454865561E-5	0.008
18	71803105	C	G	18	74135870	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.46340136238651E-5	0.008
18	71803105	C	T	18	74135870	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.71941749350206E-5	0.012
18	71803106	A	C	18	74135871	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00143545497275617	0.14
18	71803106	A	G	18	74135871	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.23411937490673E-5	0.006
18	71803106	A	T	18	74135871	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.997561298062009	0.78
18	71803107	A	C	18	74135872	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.32513370248049E-4	0.06
18	71803107	A	G	18	74135872	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.66524958848345E-5	0.006
18	71803107	A	T	18	74135872	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00102809069376054	0.036
18	71803108	A	C	18	74135873	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.25995848153608E-4	0.008
18	71803108	A	G	18	74135873	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.66524958848345E-5	0.006
18	71803108	A	T	18	74135873	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.67020144251216E-4	0.044
18	71803109	A	C	18	74135874	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.04285262861789E-5	0.038
18	71803109	A	G	18	74135874	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.13445021801971E-5	0.008
18	71803109	A	T	18	74135874	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.49926680854747E-4	0.014
18	71803110	A	C	18	74135875	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.87268995448983E-4	0.062
18	71803110	A	G	18	74135875	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.96704807824209E-5	0.006
18	71803110	A	T	18	74135875	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.20387852612732E-4	0.072
18	71803111	C	A	18	74135876	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.48355598285393E-5	0.004
18	71803111	C	G	18	74135876	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.11599788285826E-6	0.0
18	71803111	C	T	18	74135876	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.73885425120001E-5	0.002
18	71803112	A	C	18	74135877	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.77528356028392E-4	0.156
18	71803112	A	G	18	74135877	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.19136727162234E-5	0.076
18	71803112	A	T	18	74135877	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.998949660215514	0.918
18	71803113	G	A	18	74135878	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.12602080628492E-5	0.006
18	71803113	G	C	18	74135878	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.04065344900872E-5	0.008
18	71803113	G	T	18	74135878	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.02726067819128E-4	0.034
18	71807429	C	A	18	74140194	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.04349982970396E-5	0.002
18	71807429	C	G	18	74140194	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.08692400722682E-5	0.004
18	71807429	C	T	18	74140194	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.04349982970396E-5	0.002
18	71807430	T	A	18	74140195	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.19838496773655E-5	0.0
18	71807430	T	C	18	74140195	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.19838496773655E-5	0.0
18	71807430	T	G	18	74140195	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.67553546471641E-5	0.0
18	71807431	A	C	18	74140196	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.45031408515597E-4	0.04
18	71807431	A	G	18	74140196	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00197822918747898	0.044
18	71807431	A	T	18	74140196	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0016723625543349	0.04
18	71807432	C	A	18	74140197	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.970007464740411	0.744
18	71807432	C	G	18	74140197	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.997625274103042	0.83
18	71807432	C	T	18	74140197	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.993383595449129	0.892
18	71807433	T	A	18	74140198	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.92708440339558	0.606
18	71807433	T	C	18	74140198	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.849205797403781	0.66
18	71807433	T	G	18	74140198	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.673783728927683	0.52
18	71807434	T	A	18	74140199	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.652046718840801	0.454
18	71807434	T	C	18	74140199	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.36116778128757E-4	0.018
18	71807434	T	G	18	74140199	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.672116129965089	0.488
18	71807435	A	C	18	74140200	y	y	splicing	FBXO15(NM_001142958:exon3:c.227+2T>G)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.356+2T>G;ENST00000419743:exon3:c.227+2T>G;ENST00000581214:exon3:c.191+2T>G;ENST00000585174:exon4:c.372+2T>G;ENST00000580552:exon5:c.362+2T>G)	.	.	0.999966203349492	0.944
18	71807435	A	G	18	74140200	y	y	splicing	FBXO15(NM_001142958:exon3:c.227+2T>C)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.356+2T>C;ENST00000419743:exon3:c.227+2T>C;ENST00000581214:exon3:c.191+2T>C;ENST00000585174:exon4:c.372+2T>C;ENST00000580552:exon5:c.362+2T>C)	.	.	0.964269326764053	0.638
18	71807435	A	T	18	74140200	y	y	splicing	FBXO15(NM_001142958:exon3:c.227+2T>A)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.356+2T>A;ENST00000419743:exon3:c.227+2T>A;ENST00000581214:exon3:c.191+2T>A;ENST00000585174:exon4:c.372+2T>A;ENST00000580552:exon5:c.362+2T>A)	.	.	0.999966203349492	0.944
18	71807436	C	A	18	74140201	y	y	splicing	FBXO15(NM_001142958:exon3:c.227+1G>T)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.356+1G>T;ENST00000419743:exon3:c.227+1G>T;ENST00000581214:exon3:c.191+1G>T;ENST00000585174:exon4:c.372+1G>T;ENST00000580552:exon5:c.362+1G>T)	.	.	0.999945520654368	0.942
18	71807436	C	G	18	74140201	y	y	splicing	FBXO15(NM_001142958:exon3:c.227+1G>C)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.356+1G>C;ENST00000419743:exon3:c.227+1G>C;ENST00000581214:exon3:c.191+1G>C;ENST00000585174:exon4:c.372+1G>C;ENST00000580552:exon5:c.362+1G>C)	.	.	0.999925439713521	0.892
18	71807436	C	T	18	74140201	y	y	splicing	FBXO15(NM_001142958:exon3:c.227+1G>A)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.356+1G>A;ENST00000419743:exon3:c.227+1G>A;ENST00000581214:exon3:c.191+1G>A;ENST00000585174:exon4:c.372+1G>A;ENST00000580552:exon5:c.362+1G>A)	.	.	0.999945520654368	0.944
18	71807437	C	A	18	74140202	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.G227T:p.G76V;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.G227T:p.G76V;	0.713047678341236	0.582
18	71807437	C	G	18	74140202	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.G227C:p.G76A;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.G227C:p.G76A;	0.831172111765837	0.498
18	71807437	C	T	18	74140202	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.G227A:p.G76E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.G227A:p.G76E;	0.720109660635062	0.61
18	71807438	C	A	18	74140203	y	y	exonic	FBXO15	stopgain SNV	FBXO15:NM_001142958:exon2:c.G226T:p.G76X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000419743:exon2:c.G226T:p.G76X;	7.67142772430664E-5	0.046
18	71807438	C	G	18	74140203	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.G226C:p.G76R;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.G226C:p.G76R;	2.04863569944355E-5	0.002
18	71807438	C	T	18	74140203	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.G226A:p.G76R;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.G226A:p.G76R;	3.17780325714917E-5	0.004
18	71807439	A	C	18	74140204	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.T225G:p.D75E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.T225G:p.D75E;	6.25173278410307E-5	0.032
18	71807439	A	G	18	74140204	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_001142958:exon2:c.T225C:p.D75D;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.T225C:p.D75D;	1.37061559161336E-5	0.0
18	71807439	A	T	18	74140204	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.T225A:p.D75E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.T225A:p.D75E;	2.43400519663891E-5	0.0
18	71807546	T	A	18	74140311	y	y	exonic	FBXO15	stopgain SNV	FBXO15:NM_001142958:exon2:c.A118T:p.K40X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000419743:exon2:c.A118T:p.K40X;	3.23608263837673E-5	0.088
18	71807546	T	C	18	74140311	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.A118G:p.K40E;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.A118G:p.K40E;	2.35702094519545E-5	0.028
18	71807546	T	G	18	74140311	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.A118C:p.K40Q;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.A118C:p.K40Q;	5.2312447390301E-5	0.044
18	71807547	T	A	18	74140312	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.A117T:p.R39S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.A117T:p.R39S;	0.0167201431206633	0.174
18	71807547	T	C	18	74140312	y	y	exonic	FBXO15	synonymous SNV	FBXO15:NM_001142958:exon2:c.A117G:p.R39R;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.A117G:p.R39R;	9.63084219764534E-5	0.0
18	71807547	T	G	18	74140312	y	y	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon2:c.A117C:p.R39S;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000419743:exon2:c.A117C:p.R39S;	0.00589233803840791	0.134
18	71807548	C	A	18	74140313	y	y	splicing	FBXO15(NM_001142958:exon3:c.117-1G>T)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.246-1G>T;ENST00000419743:exon3:c.117-1G>T;ENST00000581214:exon3:c.81-1G>T;ENST00000585174:exon4:c.262-1G>T;ENST00000580552:exon5:c.252-1G>T)	.	.	0.999916487880886	0.942
18	71807548	C	G	18	74140313	y	y	splicing	FBXO15(NM_001142958:exon3:c.117-1G>C)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.246-1G>C;ENST00000419743:exon3:c.117-1G>C;ENST00000581214:exon3:c.81-1G>C;ENST00000585174:exon4:c.262-1G>C;ENST00000580552:exon5:c.252-1G>C)	.	.	0.999916487880886	0.95
18	71807548	C	T	18	74140313	y	y	splicing	FBXO15(NM_001142958:exon3:c.117-1G>A)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.246-1G>A;ENST00000419743:exon3:c.117-1G>A;ENST00000581214:exon3:c.81-1G>A;ENST00000585174:exon4:c.262-1G>A;ENST00000580552:exon5:c.252-1G>A)	.	.	0.999916487880886	0.956
18	71807549	T	A	18	74140314	y	y	splicing	FBXO15(NM_001142958:exon3:c.117-2A>T)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.246-2A>T;ENST00000419743:exon3:c.117-2A>T;ENST00000581214:exon3:c.81-2A>T;ENST00000585174:exon4:c.262-2A>T;ENST00000580552:exon5:c.252-2A>T)	.	.	0.999966514958823	0.944
18	71807549	T	C	18	74140314	y	y	splicing	FBXO15(NM_001142958:exon3:c.117-2A>G)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.246-2A>G;ENST00000419743:exon3:c.117-2A>G;ENST00000581214:exon3:c.81-2A>G;ENST00000585174:exon4:c.262-2A>G;ENST00000580552:exon5:c.252-2A>G)	.	.	0.999966514958823	0.914
18	71807549	T	G	18	74140314	y	y	splicing	FBXO15(NM_001142958:exon3:c.117-2A>C)	.	.	splicing	ENSG00000141665(ENST00000583443:exon3:c.246-2A>C;ENST00000419743:exon3:c.117-2A>C;ENST00000581214:exon3:c.81-2A>C;ENST00000585174:exon4:c.262-2A>C;ENST00000580552:exon5:c.252-2A>C)	.	.	0.999966514958823	0.924
18	71807550	G	A	18	74140315	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00215926722565839	0.064
18	71807550	G	C	18	74140315	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999428727565015	0.924
18	71807550	G	T	18	74140315	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.97130752700662	0.71
18	71807551	A	C	18	74140316	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.42787219915906E-5	0.004
18	71807551	A	G	18	74140316	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.31953566883424E-4	0.002
18	71807551	A	T	18	74140316	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.80227893559169E-4	0.008
18	71807552	A	C	18	74140317	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.980243379434517	0.64
18	71807552	A	G	18	74140317	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0429691065983914	0.294
18	71807552	A	T	18	74140317	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.885045747234196	0.6
18	71807553	A	C	18	74140318	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.985674667215823	0.618
18	71807553	A	G	18	74140318	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0010881066208244	0.024
18	71807553	A	T	18	74140318	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.898340131008814	0.586
18	71807554	G	A	18	74140319	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.04311182464242E-5	0.0
18	71807554	G	C	18	74140319	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.996451472625871	0.892
18	71807554	G	T	18	74140319	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.71073922849103E-4	0.034
18	71807555	T	A	18	74140320	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.51983032046199E-5	0.034
18	71807555	T	C	18	74140320	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.29405757193836E-5	0.0
18	71807555	T	G	18	74140320	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.51983032046199E-5	0.0
18	71807556	A	C	18	74140321	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0112753720862493	0.246
18	71807556	A	G	18	74140321	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.22910077135552E-4	0.07
18	71807556	A	T	18	74140321	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.00719218125819338	0.22
18	71807557	A	C	18	74140322	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0474128139250285	0.386
18	71807557	A	G	18	74140322	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.50000443703736E-4	0.018
18	71807557	A	T	18	74140322	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.017473494309999	0.302
18	71807558	A	C	18	74140323	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.999915598860199	0.96
18	71807558	A	G	18	74140323	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.0167970056028214	0.232
18	71807558	A	T	18	74140323	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	0.508850212209389	0.532
18	71807559	T	A	18	74140324	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.65047354028333E-5	0.0
18	71807559	T	C	18	74140324	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.49861508403115E-5	0.012
18	71807559	T	G	18	74140324	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.65047354028333E-5	0.0
18	71807951	G	A	18	74140716	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.55948984093289E-5	0.004
18	71807951	G	C	18	74140716	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.55948984093289E-5	0.004
18	71807951	G	T	18	74140716	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.55948984093289E-5	0.006
18	71807952	T	A	18	74140717	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.21557472225283E-5	0.0
18	71807952	T	C	18	74140717	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.21557472225283E-5	0.0
18	71807952	T	G	18	74140717	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.21557472225283E-5	0.0
18	71807953	A	C	18	74140718	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.59839159160091E-5	0.0
18	71807953	A	G	18	74140718	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.59839159160091E-5	0.0
18	71807953	A	T	18	74140718	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	9.59839159160091E-5	0.0
18	71807954	C	A	18	74140719	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.08692400722682E-5	0.006
18	71807954	C	G	18	74140719	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.13951347297017E-5	0.002
18	71807954	C	T	18	74140719	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.08692400722682E-5	0.0
18	71807955	T	A	18	74140720	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.38731564659595E-5	0.002
18	71807955	T	C	18	74140720	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.38731564659595E-5	0.002
18	71807955	T	G	18	74140720	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.38731564659595E-5	0.002
18	71807956	T	A	18	74140721	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.1020973109669E-5	0.0
18	71807956	T	C	18	74140721	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.256915070725E-5	0.0
18	71807956	T	G	18	74140721	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.256915070725E-5	0.0
18	71807957	A	C	18	74140722	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.261+2T>G;ENST00000580552:exon4:c.251+2T>G)	.	.	2.455930068921E-5	0.002
18	71807957	A	G	18	74140722	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.261+2T>C;ENST00000580552:exon4:c.251+2T>C)	.	.	2.455930068921E-5	0.002
18	71807957	A	T	18	74140722	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.261+2T>A;ENST00000580552:exon4:c.251+2T>A)	.	.	2.455930068921E-5	0.002
18	71807958	C	A	18	74140723	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.261+1G>T;ENST00000580552:exon4:c.251+1G>T)	.	.	6.08692400722682E-5	0.0
18	71807958	C	G	18	74140723	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.261+1G>C;ENST00000580552:exon4:c.251+1G>C)	.	.	6.08692400722682E-5	0.0
18	71807958	C	T	18	74140723	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.261+1G>A;ENST00000580552:exon4:c.251+1G>A)	.	.	5.04349982970396E-5	0.0
18	71807959	T	A	18	74140724	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	4.17119222840784E-5	0.004
18	71807959	T	C	18	74140724	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	4.17119222840784E-5	0.004
18	71807959	T	G	18	74140724	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	4.17119222840784E-5	0.004
18	71807960	C	A	18	74140725	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	9.69273391006921E-5	0.018
18	71807960	C	G	18	74140725	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	9.69273391006921E-5	0.018
18	71807960	C	T	18	74140725	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	9.69273391006921E-5	0.018
18	71807961	T	A	18	74140726	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	5.15941453541388E-5	0.002
18	71807961	T	C	18	74140726	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	5.15941453541388E-5	0.002
18	71807961	T	G	18	74140726	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	5.15941453541388E-5	0.002
18	71808007	G	A	18	74140772	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000585174:exon2:c.C213T:p.A71A;	3.78864525412067E-5	0.0
18	71808007	G	C	18	74140772	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000585174:exon2:c.C213G:p.A71A;	3.78864525412067E-5	0.0
18	71808007	G	T	18	74140772	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000585174:exon2:c.C213A:p.A71A;	3.78864525412067E-5	0.0
18	71808008	G	A	18	74140773	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon2:c.C212T:p.A71V;	7.17029124203775E-5	0.002
18	71808008	G	C	18	74140773	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon2:c.C212G:p.A71G;	3.94504578802962E-5	0.0
18	71808008	G	T	18	74140773	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon2:c.C212A:p.A71D;	3.94504578802962E-5	0.0
18	71808009	C	A	18	74140774	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.212-1G>T;ENST00000580552:exon4:c.202-1G>T)	.	.	4.68952365742707E-5	0.046
18	71808009	C	G	18	74140774	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.212-1G>C;ENST00000580552:exon4:c.202-1G>C)	.	.	4.68952365742707E-5	0.048
18	71808009	C	T	18	74140774	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.212-1G>A;ENST00000580552:exon4:c.202-1G>A)	.	.	4.68952365742707E-5	0.044
18	71808010	T	A	18	74140775	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.212-2A>T;ENST00000580552:exon4:c.202-2A>T)	.	.	1.80994074047231E-5	0.0
18	71808010	T	C	18	74140775	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.212-2A>G;ENST00000580552:exon4:c.202-2A>G)	.	.	1.67738868662274E-5	0.0
18	71808010	T	G	18	74140775	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000585174:exon3:c.212-2A>C;ENST00000580552:exon4:c.202-2A>C)	.	.	1.67738868662274E-5	0.0
18	71808011	T	A	18	74140776	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.97864243205666E-5	0.0
18	71808011	T	C	18	74140776	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.97864243205666E-5	0.0
18	71808011	T	G	18	74140776	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.97864243205666E-5	0.0
18	71808012	T	A	18	74140777	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.97864243205666E-5	0.0
18	71808012	T	C	18	74140777	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.97864243205666E-5	0.002
18	71808012	T	G	18	74140777	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.97864243205666E-5	0.002
18	71808013	C	A	18	74140778	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.33308296055063E-4	0.148
18	71808013	C	G	18	74140778	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.33308296055063E-4	0.078
18	71808013	C	T	18	74140778	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.74480241737554E-4	0.0
18	71808014	A	C	18	74140779	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.01330567930374E-5	0.002
18	71808014	A	G	18	74140779	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.01330567930374E-5	0.002
18	71808014	A	T	18	74140779	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.01330567930374E-5	0.0
18	71808015	A	C	18	74140780	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.04243866858565E-5	0.0
18	71808015	A	G	18	74140780	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.04243866858565E-5	0.0
18	71808015	A	T	18	74140780	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.36187558740154E-5	0.002
18	71808016	C	A	18	74140781	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.09182217261609E-5	0.0
18	71808016	C	G	18	74140781	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.09182217261609E-5	0.002
18	71808016	C	T	18	74140781	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.09182217261609E-5	0.0
18	71808017	A	C	18	74140782	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.36340088948343E-5	0.002
18	71808017	A	G	18	74140782	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.36340088948343E-5	0.0
18	71808017	A	T	18	74140782	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.36340088948343E-5	0.008
18	71808018	T	A	18	74140783	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.83708300348738E-5	0.004
18	71808018	T	C	18	74140783	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.80994074047231E-5	0.0
18	71808018	T	G	18	74140783	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.80994074047231E-5	0.0
18	71808019	G	A	18	74140784	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.552751562108E-5	0.044
18	71808019	G	C	18	74140784	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.26423815498506E-5	0.04
18	71808019	G	T	18	74140784	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.26423815498506E-5	0.04
18	71808020	T	A	18	74140785	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.05606112543448E-5	0.008
18	71808020	T	C	18	74140785	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.6857887130806E-5	0.008
18	71808020	T	G	18	74140785	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.6857887130806E-5	0.008
18	71814262	T	A	18	74147027	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.05089878083976E-4	0.018
18	71814262	T	C	18	74147027	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.6857887130806E-5	0.006
18	71814262	T	G	18	74147027	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.05606112543448E-5	0.006
18	71814263	A	C	18	74147028	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.38258961194127E-5	0.018
18	71814263	A	G	18	74147028	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.38258961194127E-5	0.018
18	71814263	A	T	18	74147028	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.52086759380612E-5	0.012
18	71814264	A	C	18	74147029	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.50552619103442E-5	0.004
18	71814264	A	G	18	74147029	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.50552619103442E-5	0.004
18	71814264	A	T	18	74147029	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.11713759611921E-5	0.0
18	71814265	G	A	18	74147030	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7749166663215E-5	0.006
18	71814265	G	C	18	74147030	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7749166663215E-5	0.0
18	71814265	G	T	18	74147030	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7749166663215E-5	0.0
18	71814266	G	A	18	74147031	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7749166663215E-5	0.006
18	71814266	G	C	18	74147031	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7749166663215E-5	0.0
18	71814266	G	T	18	74147031	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	4.7749166663215E-5	0.0
18	71814267	T	A	18	74147032	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.53292460361593E-5	0.024
18	71814267	T	C	18	74147032	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.53292460361593E-5	0.008
18	71814267	T	G	18	74147032	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.53292460361593E-5	0.008
18	71814268	A	C	18	74147033	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000581214:exon2:c.80+2T>G;ENST00000580552:exon3:c.201+2T>G)	.	.	2.64873789107489E-5	0.002
18	71814268	A	G	18	74147033	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000581214:exon2:c.80+2T>C;ENST00000580552:exon3:c.201+2T>C)	.	.	1.27145488438373E-5	0.0
18	71814268	A	T	18	74147033	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000581214:exon2:c.80+2T>A;ENST00000580552:exon3:c.201+2T>A)	.	.	3.0180149904064E-5	0.0
18	71814269	C	A	18	74147034	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000581214:exon2:c.80+1G>T;ENST00000580552:exon3:c.201+1G>T)	.	.	9.21619245134896E-5	0.002
18	71814269	C	G	18	74147034	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000581214:exon2:c.80+1G>C;ENST00000580552:exon3:c.201+1G>C)	.	.	9.21619245134896E-5	0.004
18	71814269	C	T	18	74147034	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000581214:exon2:c.80+1G>A;ENST00000580552:exon3:c.201+1G>A)	.	.	9.21619245134896E-5	0.004
18	71814270	C	A	18	74147035	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	2.38863475275964E-5	0.002
18	71814270	C	G	18	74147035	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	3.19415310822882E-5	0.01
18	71814270	C	T	18	74147035	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	2.38863475275964E-5	0.0
18	71814271	A	C	18	74147036	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	5.52086759380612E-5	0.008
18	71814271	A	G	18	74147036	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	5.52086759380612E-5	0.008
18	71814271	A	T	18	74147036	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	5.52086759380612E-5	0.006
18	71814272	T	A	18	74147037	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	5.05606112543448E-5	0.01
18	71814272	T	C	18	74147037	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	4.6857887130806E-5	0.01
18	71814272	T	G	18	74147037	n	y	intronic	FBXO15	.	.	UTR3	ENSG00000141665	.	.	4.6857887130806E-5	0.01
18	71814353	A	C	18	74147118	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon2:c.T118G:p.S40A;	6.89925739660516E-5	0.006
18	71814353	A	G	18	74147118	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon2:c.T118C:p.S40P;	6.89925739660516E-5	0.006
18	71814353	A	T	18	74147118	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon2:c.T118A:p.S40T;	5.15941453541388E-5	0.002
18	71814354	C	A	18	74147119	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon2:c.G117T:p.R39S;	2.52873415590811E-5	0.0
18	71814354	C	G	18	74147119	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon2:c.G117C:p.R39S;	2.52873415590811E-5	0.0
18	71814354	C	T	18	74147119	n	y	intronic	FBXO15	.	.	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000580552:exon2:c.G117A:p.R39R;	1.63709697066248E-5	0.0
18	71814355	C	A	18	74147120	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000580552:exon3:c.117-1G>T)	.	.	2.45277156108894E-5	0.0
18	71814355	C	G	18	74147120	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000580552:exon3:c.117-1G>C)	.	.	2.45277156108894E-5	0.0
18	71814355	C	T	18	74147120	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000580552:exon3:c.117-1G>A)	.	.	2.45277156108894E-5	0.0
18	71814356	T	A	18	74147121	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000580552:exon3:c.117-2A>T)	.	.	1.37501361942679E-5	0.0
18	71814356	T	C	18	74147121	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000580552:exon3:c.117-2A>G)	.	.	1.37501361942679E-5	0.0
18	71814356	T	G	18	74147121	n	y	intronic	FBXO15	.	.	splicing	ENSG00000141665(ENST00000580552:exon3:c.117-2A>C)	.	.	1.37501361942679E-5	0.0
18	71814357	G	A	18	74147122	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.14850402615726E-5	0.006
18	71814357	G	C	18	74147122	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.59034071532942E-5	0.004
18	71814357	G	T	18	74147122	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.14850402615726E-5	0.006
18	71814358	G	A	18	74147123	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.03359245426808E-5	0.008
18	71814358	G	C	18	74147123	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.03359245426808E-5	0.008
18	71814358	G	T	18	74147123	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.03359245426808E-5	0.008
18	71814359	C	A	18	74147124	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.88014054966508E-5	0.0
18	71814359	C	G	18	74147124	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.88014054966508E-5	0.0
18	71814359	C	T	18	74147124	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.88014054966508E-5	0.0
18	71814360	A	C	18	74147125	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.48519371611462E-5	0.0
18	71814360	A	G	18	74147125	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.48519371611462E-5	0.0
18	71814360	A	T	18	74147125	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.29409940438522E-5	0.004
18	71814361	A	C	18	74147126	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.10275622159801E-5	0.002
18	71814361	A	G	18	74147126	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.10275622159801E-5	0.002
18	71814361	A	T	18	74147126	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.10275622159801E-5	0.002
18	71814362	T	A	18	74147127	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.42544334184685E-5	0.008
18	71814362	T	C	18	74147127	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.42544334184685E-5	0.008
18	71814362	T	G	18	74147127	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.42544334184685E-5	0.008
18	71814363	G	A	18	74147128	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.72856012916778E-5	0.0
18	71814363	G	C	18	74147128	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.52873415590811E-5	0.0
18	71814363	G	T	18	74147128	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.52873415590811E-5	0.0
18	71814364	T	A	18	74147129	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.90066968634554E-5	0.0
18	71814364	T	C	18	74147129	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.66107858676095E-5	0.0
18	71814364	T	G	18	74147129	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	2.66107858676095E-5	0.0
18	71814365	A	C	18	74147130	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.12869275217467E-5	0.0
18	71814365	A	G	18	74147130	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.12869275217467E-5	0.0
18	71814365	A	T	18	74147130	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.12869275217467E-5	0.0
18	71814366	G	A	18	74147131	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.09395893123295E-5	0.002
18	71814366	G	C	18	74147131	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.78684081159298E-5	0.002
18	71814366	G	T	18	74147131	n	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.09395893123295E-5	0.002
18	71814768	T	A	18	74147533	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.15267776820636E-5	0.0
18	71814768	T	C	18	74147533	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.15267776820636E-5	0.0
18	71814768	T	G	18	74147533	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.15267776820636E-5	0.0
18	71814769	T	A	18	74147534	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	3.62965044666173E-5	0.0
18	71814769	T	C	18	74147534	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.59706358747764E-5	0.0
18	71814769	T	G	18	74147534	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	6.59706358747764E-5	0.0
18	71814770	C	A	18	74147535	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.49702646665041E-5	0.006
18	71814770	C	G	18	74147535	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.49702646665041E-5	0.006
18	71814770	C	T	18	74147535	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.49702646665041E-5	0.008
18	71814771	C	A	18	74147536	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.52881759733747E-5	0.0
18	71814771	C	G	18	74147536	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.00675832680685E-4	0.05
18	71814771	C	T	18	74147536	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	7.52881759733747E-5	0.0
18	71814772	A	C	18	74147537	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.15941453541388E-5	0.004
18	71814772	A	G	18	74147537	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.15941453541388E-5	0.004
18	71814772	A	T	18	74147537	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	5.69439264402225E-5	0.002
18	71814773	T	A	18	74147538	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	8.3500733371869E-5	0.0
18	71814773	T	C	18	74147538	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.11657407965104E-4	0.024
18	71814773	T	G	18	74147538	y	y	intronic	FBXO15	.	.	intronic	ENSG00000141665	.	.	1.11657407965104E-4	0.038
18	71814774	A	C	18	74147539	y	y	splicing	FBXO15	.	.	splicing	ENSG00000141665(ENST00000583443:exon2:c.245+2T>G;ENST00000585174:exon2:c.211+2T>G)	.	.	2.05567792764038E-5	0.002
18	71814774	A	G	18	74147539	y	y	splicing	FBXO15	.	.	splicing	ENSG00000141665(ENST00000583443:exon2:c.245+2T>C;ENST00000585174:exon2:c.211+2T>C)	.	.	2.05567792764038E-5	0.002
18	71814774	A	T	18	74147539	y	y	splicing	FBXO15	.	.	splicing	ENSG00000141665(ENST00000583443:exon2:c.245+2T>A;ENST00000585174:exon2:c.211+2T>A)	.	.	2.12967705479703E-5	0.0
18	71814775	C	A	18	74147540	y	y	splicing	FBXO15	.	.	splicing	ENSG00000141665(ENST00000583443:exon2:c.245+1G>T;ENST00000585174:exon2:c.211+1G>T)	.	.	7.5364181533214E-5	0.0
18	71814775	C	G	18	74147540	y	y	splicing	FBXO15	.	.	splicing	ENSG00000141665(ENST00000583443:exon2:c.245+1G>C;ENST00000585174:exon2:c.211+1G>C)	.	.	7.5364181533214E-5	0.0
18	71814775	C	T	18	74147540	y	y	splicing	FBXO15	.	.	splicing	ENSG00000141665(ENST00000583443:exon2:c.245+1G>A;ENST00000585174:exon2:c.211+1G>A)	.	.	7.5364181533214E-5	0.0
18	71814776	C	A	18	74147541	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G211T:p.A71S;	6.84650287766538E-5	0.018
18	71814776	C	G	18	74147541	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G211C:p.A71P;	6.84650287766538E-5	0.018
18	71814776	C	T	18	74147541	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G211A:p.A71T;	1.19901284842986E-4	0.02
18	71814777	C	A	18	74147542	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G210T:p.K70N;	6.61083990065331E-5	0.0
18	71814777	C	G	18	74147542	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G210C:p.K70N;	5.04349982970396E-5	0.0
18	71814777	C	T	18	74147542	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G210A:p.K70K;	8.55472960422104E-5	0.0
18	71814778	T	A	18	74147543	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.A209T:p.K70M;	2.93008933363103E-5	0.002
18	71814778	T	C	18	74147543	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.A209G:p.K70R;	4.90028914359353E-5	0.006
18	71814778	T	G	18	74147543	y	y	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.A209C:p.K70T;	2.93008933363103E-5	0.002
18	71814897	A	C	18	74147662	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.T90G:p.C30W;	3.22892699882985E-4	0.03
18	71814897	A	G	18	74147662	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.T90C:p.C30C;	4.56339462951702E-4	0.13
18	71814897	A	T	18	74147662	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000585174:exon1:c.T90A:p.C30X;	1.11329667944553E-4	0.218
18	71814898	C	A	18	74147663	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G89T:p.C30F;	1.96352649027713E-4	0.014
18	71814898	C	G	18	74147663	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G89C:p.C30S;	2.175271902372E-4	0.008
18	71814898	C	T	18	74147663	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G89A:p.C30Y;	1.63995423123284E-4	0.0
18	71814899	A	C	18	74147664	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.T88G:p.C30G;	6.89608410071208E-4	0.222
18	71814899	A	G	18	74147664	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.T88C:p.C30R;	0.00623824802203266	0.166
18	71814899	A	T	18	74147664	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.T88A:p.C30S;	0.00992978581293057	0.226
18	71814900	G	A	18	74147665	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.C87T:p.D29D;	1.92019746686437E-4	0.006
18	71814900	G	C	18	74147665	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.C87G:p.D29E;	1.81724548972544E-4	0.06
18	71814900	G	T	18	74147665	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.C87A:p.D29E;	1.05356074481699E-4	0.042
18	71814901	T	A	18	74147666	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	stoploss SNV	ENSG00000141665:ENST00000583443:exon1:c.A120T:p.X40C;	0.956940393628603	0.814
18	71814901	T	C	18	74147666	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	stoploss SNV	ENSG00000141665:ENST00000583443:exon1:c.A120G:p.X40W;	0.923043571322903	0.77
18	71814901	T	G	18	74147666	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	stoploss SNV	ENSG00000141665:ENST00000583443:exon1:c.A120C:p.X40C;	0.398892798049295	0.464
18	71814902	C	A	18	74147667	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	stoploss SNV	ENSG00000141665:ENST00000583443:exon1:c.G119T:p.X40L;	0.999267385668041	0.698
18	71814902	C	G	18	74147667	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	stoploss SNV	ENSG00000141665:ENST00000583443:exon1:c.G119C:p.X40S;	0.993896877851954	0.696
18	71814902	C	T	18	74147667	y	n	UTR5	FBXO15	.	.	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G85A:p.D29N;	0.94562536848708	0.822
18	71814903	A	C	18	74147668	y	n	splicing	FBXO15(NM_001142958:exon2:c.116+2T>G)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000419743:exon2:c.116+2T>G;ENST00000582526:exon2:c.116+2T>G;ENST00000580552:exon2:c.116+2T>G)	stoploss SNV	ENSG00000141665:ENST00000583443:exon1:c.T118G:p.X40G;	0.999952078385378	0.926
18	71814903	A	G	18	74147668	y	n	splicing	FBXO15(NM_001142958:exon2:c.116+2T>C)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000419743:exon2:c.116+2T>C;ENST00000582526:exon2:c.116+2T>C;ENST00000580552:exon2:c.116+2T>C)	stoploss SNV	ENSG00000141665:ENST00000583443:exon1:c.T118C:p.X40R;	0.999725788756709	0.888
18	71814903	A	T	18	74147668	y	n	splicing	FBXO15(NM_001142958:exon2:c.116+2T>A)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000419743:exon2:c.116+2T>A;ENST00000582526:exon2:c.116+2T>A;ENST00000580552:exon2:c.116+2T>A)	stoploss SNV	ENSG00000141665:ENST00000583443:exon1:c.T118A:p.X40R;	0.999952078385378	0.922
18	71814904	C	A	18	74147669	y	n	splicing	FBXO15(NM_001142958:exon2:c.116+1G>T)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000419743:exon2:c.116+1G>T;ENST00000582526:exon2:c.116+1G>T;ENST00000580552:exon2:c.116+1G>T)	nonsynonymous SNV	ENSG00000141665:ENST00000583443:exon1:c.G117T:p.R39S;ENSG00000141665:ENST00000585174:exon1:c.G83T:p.G28V;	0.999960001466859	0.944
18	71814904	C	G	18	74147669	y	n	splicing	FBXO15(NM_001142958:exon2:c.116+1G>C)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000419743:exon2:c.116+1G>C;ENST00000582526:exon2:c.116+1G>C;ENST00000580552:exon2:c.116+1G>C)	nonsynonymous SNV	ENSG00000141665:ENST00000583443:exon1:c.G117C:p.R39S;ENSG00000141665:ENST00000585174:exon1:c.G83C:p.G28A;	0.999960370256055	0.946
18	71814904	C	T	18	74147669	y	n	splicing	FBXO15(NM_001142958:exon2:c.116+1G>A)	.	.	exonic;splicing	ENSG00000141665;ENSG00000141665(ENST00000419743:exon2:c.116+1G>A;ENST00000582526:exon2:c.116+1G>A;ENST00000580552:exon2:c.116+1G>A)	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.G83A:p.G28D;	0.999960001466859	0.944
18	71814905	C	A	18	74147670	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon1:c.G116T:p.R39I;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon1:c.G116T:p.R39M;ENSG00000141665:ENST00000583443:exon1:c.G116T:p.R39M;ENSG00000141665:ENST00000582526:exon1:c.G116T:p.R39I;ENSG00000141665:ENST00000585174:exon1:c.G82T:p.G28C;ENSG00000141665:ENST00000419743:exon1:c.G116T:p.R39I;	0.999006526101726	0.994
18	71814905	C	G	18	74147670	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon1:c.G116C:p.R39T;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon1:c.G116C:p.R39T;ENSG00000141665:ENST00000583443:exon1:c.G116C:p.R39T;ENSG00000141665:ENST00000582526:exon1:c.G116C:p.R39T;ENSG00000141665:ENST00000585174:exon1:c.G82C:p.G28R;ENSG00000141665:ENST00000419743:exon1:c.G116C:p.R39T;	0.999853668060182	0.992
18	71814905	C	T	18	74147670	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon1:c.G116A:p.R39K;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon1:c.G116A:p.R39K;ENSG00000141665:ENST00000583443:exon1:c.G116A:p.R39K;ENSG00000141665:ENST00000582526:exon1:c.G116A:p.R39K;ENSG00000141665:ENST00000585174:exon1:c.G82A:p.G28S;ENSG00000141665:ENST00000419743:exon1:c.G116A:p.R39K;	0.999985594436987	1.0
18	71814906	T	A	18	74147671	y	n	exonic	FBXO15	stopgain SNV	FBXO15:NM_001142958:exon1:c.A115T:p.R39X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000582526:exon1:c.A115T:p.R39X;ENSG00000141665:ENST00000419743:exon1:c.A115T:p.R39X;	0.999923446528	0.976
18	71814906	T	C	18	74147671	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon1:c.A115G:p.R39G;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon1:c.A115G:p.R39G;ENSG00000141665:ENST00000583443:exon1:c.A115G:p.R39G;ENSG00000141665:ENST00000582526:exon1:c.A115G:p.R39G;ENSG00000141665:ENST00000419743:exon1:c.A115G:p.R39G;	0.999024773464793	0.976
18	71814906	T	G	18	74147671	y	n	exonic	FBXO15	synonymous SNV	FBXO15:NM_001142958:exon1:c.A115C:p.R39R;	exonic	ENSG00000141665	synonymous SNV	ENSG00000141665:ENST00000580552:exon1:c.A115C:p.R39R;ENSG00000141665:ENST00000583443:exon1:c.A115C:p.R39R;ENSG00000141665:ENST00000582526:exon1:c.A115C:p.R39R;ENSG00000141665:ENST00000585174:exon1:c.A81C:p.A27A;ENSG00000141665:ENST00000419743:exon1:c.A115C:p.R39R;	0.999275550332841	0.996
18	71814907	G	A	18	74147672	y	n	exonic	FBXO15	synonymous SNV	FBXO15:NM_001142958:exon1:c.C114T:p.C38C;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000585174:exon1:c.C80T:p.A27V;	0.924495715083247	0.756
18	71814907	G	C	18	74147672	y	n	exonic	FBXO15	nonsynonymous SNV	FBXO15:NM_001142958:exon1:c.C114G:p.C38W;	exonic	ENSG00000141665	nonsynonymous SNV	ENSG00000141665:ENST00000580552:exon1:c.C114G:p.C38W;ENSG00000141665:ENST00000583443:exon1:c.C114G:p.C38W;ENSG00000141665:ENST00000582526:exon1:c.C114G:p.C38W;ENSG00000141665:ENST00000585174:exon1:c.C80G:p.A27G;ENSG00000141665:ENST00000419743:exon1:c.C114G:p.C38W;	0.00358261036128375	0.074
18	71814907	G	T	18	74147672	y	n	exonic	FBXO15	stopgain SNV	FBXO15:NM_001142958:exon1:c.C114A:p.C38X;	exonic	ENSG00000141665	stopgain SNV	ENSG00000141665:ENST00000580552:exon1:c.C114A:p.C38X;ENSG00000141665:ENST00000583443:exon1:c.C114A:p.C38X;ENSG00000141665:ENST00000582526:exon1:c.C114A:p.C38X;ENSG00000141665:ENST00000419743:exon1:c.C114A:p.C38X;	0.0171226607211323	0.264
18	71816342	A	C	18	74149107	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon1:c.A299C:p.K100T;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.A299C:p.K100T;ENSG00000075336:ENST00000169551:exon1:c.A299C:p.K100T;	0.00516892664058551	0.056
18	71816342	A	G	18	74149107	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon1:c.A299G:p.K100R;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.A299G:p.K100R;ENSG00000075336:ENST00000169551:exon1:c.A299G:p.K100R;	0.00748004072450585	0.126
18	71816342	A	T	18	74149107	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon1:c.A299T:p.K100I;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.A299T:p.K100I;ENSG00000075336:ENST00000169551:exon1:c.A299T:p.K100I;	0.983696461637152	0.756
18	71816343	A	C	18	74149108	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon1:c.A300C:p.K100N;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.A300C:p.K100N;ENSG00000075336:ENST00000169551:exon1:c.A300C:p.K100N;	0.995231778093438	0.852
18	71816343	A	G	18	74149108	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon1:c.A300G:p.K100K;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.A300G:p.K100K;ENSG00000075336:ENST00000169551:exon1:c.A300G:p.K100K;	0.970377335505243	0.722
18	71816343	A	T	18	74149108	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon1:c.A300T:p.K100N;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.A300T:p.K100N;ENSG00000075336:ENST00000169551:exon1:c.A300T:p.K100N;	0.999766722516323	0.998
18	71816344	G	A	18	74149109	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon1:c.G301A:p.V101M;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.G301A:p.V101M;ENSG00000075336:ENST00000169551:exon1:c.G301A:p.V101M;	0.999990794728237	0.99
18	71816344	G	C	18	74149109	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon1:c.G301C:p.V101L;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.G301C:p.V101L;ENSG00000075336:ENST00000169551:exon1:c.G301C:p.V101L;	0.99999706064642	0.982
18	71816344	G	T	18	74149109	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon1:c.G301T:p.V101L;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon1:c.G301T:p.V101L;ENSG00000075336:ENST00000169551:exon1:c.G301T:p.V101L;	0.999987469944553	0.976
18	71816345	G	A	18	74149110	y	y	splicing	TIMM21(NM_014177:exon1:c.301+1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon1:c.301+1G>A;ENST00000580087:exon1:c.301+1G>A)	.	.	0.999915710762489	0.948
18	71816345	G	C	18	74149110	y	y	splicing	TIMM21(NM_014177:exon1:c.301+1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon1:c.301+1G>C;ENST00000580087:exon1:c.301+1G>C)	.	.	0.999916487880886	0.948
18	71816345	G	T	18	74149110	y	y	splicing	TIMM21(NM_014177:exon1:c.301+1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon1:c.301+1G>T;ENST00000580087:exon1:c.301+1G>T)	.	.	0.999915710762489	0.948
18	71816346	T	A	18	74149111	y	y	splicing	TIMM21(NM_014177:exon1:c.301+2T>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon1:c.301+2T>A;ENST00000580087:exon1:c.301+2T>A)	.	.	0.999966203349492	0.944
18	71816346	T	C	18	74149111	y	y	splicing	TIMM21(NM_014177:exon1:c.301+2T>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon1:c.301+2T>C;ENST00000580087:exon1:c.301+2T>C)	.	.	0.976701896215444	0.634
18	71816346	T	G	18	74149111	y	y	splicing	TIMM21(NM_014177:exon1:c.301+2T>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon1:c.301+2T>G;ENST00000580087:exon1:c.301+2T>G)	.	.	0.999966514958823	0.944
18	71816347	A	C	18	74149112	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999906835200569	0.972
18	71816347	A	G	18	74149112	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.998871172151504	0.778
18	71816347	A	T	18	74149112	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999743374069966	0.952
18	71816348	A	C	18	74149113	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.750304524294831	0.59
18	71816348	A	G	18	74149113	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.771715680825359	0.574
18	71816348	A	T	18	74149113	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.86936697732805	0.616
18	71816349	A	C	18	74149114	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	8.29559784397415E-5	0.024
18	71816349	A	G	18	74149114	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	9.65893046443966E-5	0.026
18	71816349	A	T	18	74149114	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.26327300855643E-4	0.022
18	71816350	A	C	18	74149115	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00184217642708404	0.144
18	71816350	A	G	18	74149115	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.79344297576126E-4	0.036
18	71816350	A	T	18	74149115	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.68373010367714E-4	0.016
18	71816351	A	C	18	74149116	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.46844991217429E-5	0.006
18	71816351	A	G	18	74149116	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	9.00254316587307E-5	0.004
18	71816351	A	T	18	74149116	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.01227028835544E-4	0.004
18	71816352	G	A	18	74149117	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.22509695417391E-5	0.002
18	71816352	G	C	18	74149117	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.80722015971514E-5	0.002
18	71816352	G	T	18	74149117	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.80722015971514E-5	0.002
18	71822368	T	A	18	74155133	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00198058340052102	0.166
18	71822368	T	C	18	74155133	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.70052685626588E-4	0.004
18	71822368	T	G	18	74155133	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00167028738825913	0.166
18	71822369	T	A	18	74155134	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.611450406031883	0.568
18	71822369	T	C	18	74155134	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.187322235176913	0.3
18	71822369	T	G	18	74155134	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.671774361739466	0.56
18	71822370	C	A	18	74155135	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.288602675777508	0.334
18	71822370	C	G	18	74155135	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.10370643706095	0.204
18	71822370	C	T	18	74155135	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00434164399910126	0.084
18	71822371	T	A	18	74155136	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.218154461804302	0.352
18	71822371	T	C	18	74155136	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0093766406659413	0.048
18	71822371	T	G	18	74155136	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0885230376616998	0.29
18	71822372	C	A	18	74155137	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00380433327611835	0.122
18	71822372	C	G	18	74155137	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00195716359287227	0.062
18	71822372	C	T	18	74155137	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.73056584532212E-5	0.0
18	71822373	T	A	18	74155138	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.7518468451116E-4	0.036
18	71822373	T	C	18	74155138	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.41436920250631E-5	0.0
18	71822373	T	G	18	74155138	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00102719174404227	0.074
18	71822374	T	A	18	74155139	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00202915312408906	0.06
18	71822374	T	C	18	74155139	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.3460941624107E-5	0.006
18	71822374	T	G	18	74155139	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	9.88033200784937E-4	0.09
18	71822375	C	A	18	74155140	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.24476597703621E-4	0.014
18	71822375	C	G	18	74155140	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.36136816535261E-4	0.02
18	71822375	C	T	18	74155140	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.58331619741799E-5	0.0
18	71822376	A	C	18	74155141	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.72923110761382E-5	0.0
18	71822376	A	G	18	74155141	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.55826038199403E-4	0.002
18	71822376	A	T	18	74155141	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.59613981636527E-4	0.002
18	71822377	C	A	18	74155142	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.997855161433568	0.896
18	71822377	C	G	18	74155142	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.99991676035098	0.968
18	71822377	C	T	18	74155142	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.862649850176825	0.294
18	71822378	A	C	18	74155143	y	y	splicing	TIMM21(NM_014177:exon2:c.302-2A>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.302-2A>C;ENST00000580087:exon2:c.302-2A>C)	.	.	0.999989917668626	0.926
18	71822378	A	G	18	74155143	y	y	splicing	TIMM21(NM_014177:exon2:c.302-2A>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.302-2A>G;ENST00000580087:exon2:c.302-2A>G)	.	.	0.999989917668626	0.926
18	71822378	A	T	18	74155143	y	y	splicing	TIMM21(NM_014177:exon2:c.302-2A>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.302-2A>T;ENST00000580087:exon2:c.302-2A>T)	.	.	0.999989917668626	0.926
18	71822379	G	A	18	74155144	y	y	splicing	TIMM21(NM_014177:exon2:c.302-1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.302-1G>A;ENST00000580087:exon2:c.302-1G>A)	.	.	0.999981760802075	0.936
18	71822379	G	C	18	74155144	y	y	splicing	TIMM21(NM_014177:exon2:c.302-1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.302-1G>C;ENST00000580087:exon2:c.302-1G>C)	.	.	0.999981760802075	0.936
18	71822379	G	T	18	74155144	y	y	splicing	TIMM21(NM_014177:exon2:c.302-1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.302-1G>T;ENST00000580087:exon2:c.302-1G>T)	.	.	0.999981760802075	0.936
18	71822380	T	A	18	74155145	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.T302A:p.V101E;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.T302A:p.V101E;ENSG00000075336:ENST00000169551:exon2:c.T302A:p.V101E;	0.491062370760264	0.74
18	71822380	T	C	18	74155145	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.T302C:p.V101A;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.T302C:p.V101A;ENSG00000075336:ENST00000169551:exon2:c.T302C:p.V101A;	0.75994040880537	0.72
18	71822380	T	G	18	74155145	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.T302G:p.V101G;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.T302G:p.V101G;ENSG00000075336:ENST00000169551:exon2:c.T302G:p.V101G;	0.594860103755324	0.66
18	71822381	G	A	18	74155146	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon2:c.G303A:p.V101V;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.G303A:p.V101V;ENSG00000075336:ENST00000169551:exon2:c.G303A:p.V101V;	0.001316807953219	0.018
18	71822381	G	C	18	74155146	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon2:c.G303C:p.V101V;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.G303C:p.V101V;ENSG00000075336:ENST00000169551:exon2:c.G303C:p.V101V;	4.57533892249854E-4	0.002
18	71822381	G	T	18	74155146	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon2:c.G303T:p.V101V;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.G303T:p.V101V;ENSG00000075336:ENST00000169551:exon2:c.G303T:p.V101V;	1.10635727645104E-4	0.0
18	71822440	C	A	18	74155205	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.C362A:p.T121K;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.C362A:p.T121K;ENSG00000075336:ENST00000169551:exon2:c.C362A:p.T121K;	0.901567556427983	.
18	71822440	C	G	18	74155205	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.C362G:p.T121R;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.C362G:p.T121R;ENSG00000075336:ENST00000169551:exon2:c.C362G:p.T121R;	0.935848576952569	.
18	71822440	C	T	18	74155205	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.C362T:p.T121I;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.C362T:p.T121I;ENSG00000075336:ENST00000169551:exon2:c.C362T:p.T121I;	0.996576902212869	.
18	71822441	A	C	18	74155206	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon2:c.A363C:p.T121T;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.A363C:p.T121T;ENSG00000075336:ENST00000169551:exon2:c.A363C:p.T121T;	0.999756311989542	.
18	71822441	A	G	18	74155206	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon2:c.A363G:p.T121T;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.A363G:p.T121T;ENSG00000075336:ENST00000169551:exon2:c.A363G:p.T121T;	0.999737510068951	.
18	71822441	A	T	18	74155206	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon2:c.A363T:p.T121T;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.A363T:p.T121T;ENSG00000075336:ENST00000169551:exon2:c.A363T:p.T121T;	0.999554250959098	.
18	71822442	G	A	18	74155207	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.G364A:p.G122S;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.G364A:p.G122S;ENSG00000075336:ENST00000169551:exon2:c.G364A:p.G122S;	0.99998133975913	.
18	71822442	G	C	18	74155207	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.G364C:p.G122R;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.G364C:p.G122R;ENSG00000075336:ENST00000169551:exon2:c.G364C:p.G122R;	0.999966727641139	.
18	71822442	G	T	18	74155207	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon2:c.G364T:p.G122C;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon2:c.G364T:p.G122C;ENSG00000075336:ENST00000169551:exon2:c.G364T:p.G122C;	0.999937040414201	.
18	71822443	G	A	18	74155208	y	y	splicing	TIMM21(NM_014177:exon2:c.364+1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.364+1G>A;ENST00000580087:exon2:c.364+1G>A;ENST00000579071:exon1:c.33+1G>A)	.	.	0.999977204999765	.
18	71822443	G	C	18	74155208	y	y	splicing	TIMM21(NM_014177:exon2:c.364+1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.364+1G>C;ENST00000580087:exon2:c.364+1G>C;ENST00000579071:exon1:c.33+1G>C)	.	.	0.999977204999765	.
18	71822443	G	T	18	74155208	y	y	splicing	TIMM21(NM_014177:exon2:c.364+1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.364+1G>T;ENST00000580087:exon2:c.364+1G>T;ENST00000579071:exon1:c.33+1G>T)	.	.	0.999977204999765	.
18	71822444	T	A	18	74155209	y	y	splicing	TIMM21(NM_014177:exon2:c.364+2T>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.364+2T>A;ENST00000580087:exon2:c.364+2T>A;ENST00000579071:exon1:c.33+2T>A)	.	.	0.999941321529225	.
18	71822444	T	C	18	74155209	y	y	splicing	TIMM21(NM_014177:exon2:c.364+2T>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.364+2T>C;ENST00000580087:exon2:c.364+2T>C;ENST00000579071:exon1:c.33+2T>C)	.	.	0.999352436488337	.
18	71822444	T	G	18	74155209	y	y	splicing	TIMM21(NM_014177:exon2:c.364+2T>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon2:c.364+2T>G;ENST00000580087:exon2:c.364+2T>G;ENST00000579071:exon1:c.33+2T>G)	.	.	0.999941321529225	.
18	71822445	T	A	18	74155210	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.07459036343906E-4	.
18	71822445	T	C	18	74155210	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.82081205381938E-4	.
18	71822445	T	G	18	74155210	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.28906660192426E-4	.
18	71822446	G	A	18	74155211	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.70156294676267E-4	.
18	71822446	G	C	18	74155211	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.57928753153004E-4	.
18	71822446	G	T	18	74155211	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.62973435201425E-4	.
18	71822447	C	A	18	74155212	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.18007658541459E-5	.
18	71822447	C	G	18	74155212	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.73651099927553E-4	.
18	71822447	C	T	18	74155212	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.83190213279879E-4	.
18	71822448	A	C	18	74155213	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.62895552040341E-4	.
18	71822448	A	G	18	74155213	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.76806905722215E-4	.
18	71822448	A	T	18	74155213	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.22444164831863E-4	.
18	71822449	A	C	18	74155214	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00691682936000767	.
18	71822449	A	G	18	74155214	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00559689238552207	.
18	71822449	A	T	18	74155214	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00554696515909237	.
18	71822450	A	C	18	74155215	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.94095854092164E-4	.
18	71822450	A	G	18	74155215	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.94095854092164E-4	.
18	71822450	A	T	18	74155215	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	9.48406161515069E-4	.
18	71822529	C	A	18	74155294	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.21418091917996E-4	0.062
18	71822529	C	G	18	74155294	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.56457637589486E-4	0.03
18	71822529	C	T	18	74155294	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.45446978984196E-5	0.0
18	71822530	T	A	18	74155295	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999939863584293	0.948
18	71822530	T	C	18	74155295	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.20719880087285	0.228
18	71822530	T	G	18	74155295	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.943130163217413	0.67
18	71822531	G	A	18	74155296	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.71478989551796E-4	0.02
18	71822531	G	C	18	74155296	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.59148195341209E-4	0.024
18	71822531	G	T	18	74155296	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.77626474722527E-4	0.044
18	71822532	T	A	18	74155297	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999392604604278	0.964
18	71822532	T	C	18	74155297	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.67595646509948E-4	0.008
18	71822532	T	G	18	74155297	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0677375646583228	0.32
18	71822533	G	A	18	74155298	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.00319698616158E-4	0.012
18	71822533	G	C	18	74155298	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.59643545139174E-5	0.018
18	71822533	G	T	18	74155298	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.28108539287913E-5	0.006
18	71822534	A	C	18	74155299	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.6928875437424E-5	0.01
18	71822534	A	G	18	74155299	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.49885298997187E-5	0.002
18	71822534	A	T	18	74155299	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.6928875437424E-5	0.01
18	71822535	T	A	18	74155300	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.990001377056099	0.808
18	71822535	T	C	18	74155300	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0215307555065283	0.284
18	71822535	T	G	18	74155300	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999928825763363	0.956
18	71822536	T	A	18	74155301	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.853203444950244	0.698
18	71822536	T	C	18	74155301	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0116819627923844	0.138
18	71822536	T	G	18	74155301	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.768763680002715	0.634
18	71822537	T	A	18	74155302	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.07204168500847E-4	0.016
18	71822537	T	C	18	74155302	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.18040532419798E-5	0.012
18	71822537	T	G	18	74155302	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	8.96265422346594E-5	0.012
18	71822538	C	A	18	74155303	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.989237480559963	0.806
18	71822538	C	G	18	74155303	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.998535655611029	0.98
18	71822538	C	T	18	74155303	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.400607336141152	0.174
18	71822539	A	C	18	74155304	y	y	splicing	TIMM21(NM_014177:exon3:c.365-2A>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.365-2A>C;ENST00000580087:exon3:c.365-2A>C;ENST00000579071:exon2:c.34-2A>C)	.	.	0.999989917668626	0.926
18	71822539	A	G	18	74155304	y	y	splicing	TIMM21(NM_014177:exon3:c.365-2A>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.365-2A>G;ENST00000580087:exon3:c.365-2A>G;ENST00000579071:exon2:c.34-2A>G)	.	.	0.999989917668626	0.926
18	71822539	A	T	18	74155304	y	y	splicing	TIMM21(NM_014177:exon3:c.365-2A>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.365-2A>T;ENST00000580087:exon3:c.365-2A>T;ENST00000579071:exon2:c.34-2A>T)	.	.	0.999989917668626	0.928
18	71822540	G	A	18	74155305	y	y	splicing	TIMM21(NM_014177:exon3:c.365-1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.365-1G>A;ENST00000580087:exon3:c.365-1G>A;ENST00000579071:exon2:c.34-1G>A)	.	.	0.999981760802075	0.938
18	71822540	G	C	18	74155305	y	y	splicing	TIMM21(NM_014177:exon3:c.365-1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.365-1G>C;ENST00000580087:exon3:c.365-1G>C;ENST00000579071:exon2:c.34-1G>C)	.	.	0.999981760802075	0.938
18	71822540	G	T	18	74155305	y	y	splicing	TIMM21(NM_014177:exon3:c.365-1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.365-1G>T;ENST00000580087:exon3:c.365-1G>T;ENST00000579071:exon2:c.34-1G>T)	.	.	0.999981760802075	0.938
18	71822541	G	A	18	74155306	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.G365A:p.G122D;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.G365A:p.G122D;ENSG00000075336:ENST00000169551:exon3:c.G365A:p.G122D;	0.997031456993509	0.836
18	71822541	G	C	18	74155306	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.G365C:p.G122A;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.G365C:p.G122A;ENSG00000075336:ENST00000169551:exon3:c.G365C:p.G122A;	0.999241839680219	0.866
18	71822541	G	T	18	74155306	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.G365T:p.G122V;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.G365T:p.G122V;ENSG00000075336:ENST00000169551:exon3:c.G365T:p.G122V;	0.998908510139111	0.966
18	71822542	T	A	18	74155307	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon3:c.T366A:p.G122G;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.T366A:p.G122G;ENSG00000075336:ENST00000169551:exon3:c.T366A:p.G122G;	0.0150004785109117	0.076
18	71822542	T	C	18	74155307	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon3:c.T366C:p.G122G;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.T366C:p.G122G;ENSG00000075336:ENST00000169551:exon3:c.T366C:p.G122G;	0.0328536134103222	0.108
18	71822542	T	G	18	74155307	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon3:c.T366G:p.G122G;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.T366G:p.G122G;ENSG00000075336:ENST00000169551:exon3:c.T366G:p.G122G;	0.0118380677650088	0.024
18	71822636	G	A	18	74155401	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.G460A:p.E154K;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.G460A:p.E154K;ENSG00000075336:ENST00000169551:exon3:c.G460A:p.E154K;	0.891439769708891	0.638
18	71822636	G	C	18	74155401	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.G460C:p.E154Q;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.G460C:p.E154Q;ENSG00000075336:ENST00000169551:exon3:c.G460C:p.E154Q;	0.134469887009875	0.278
18	71822636	G	T	18	74155401	y	y	exonic	TIMM21	stopgain SNV	TIMM21:NM_014177:exon3:c.G460T:p.E154X;	exonic	ENSG00000075336	stopgain SNV	ENSG00000075336:ENST00000580087:exon3:c.G460T:p.E154X;ENSG00000075336:ENST00000169551:exon3:c.G460T:p.E154X;	0.947272692019225	0.788
18	71822637	A	C	18	74155402	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.A461C:p.E154A;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.A461C:p.E154A;ENSG00000075336:ENST00000169551:exon3:c.A461C:p.E154A;	0.991207738417358	0.902
18	71822637	A	G	18	74155402	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.A461G:p.E154G;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.A461G:p.E154G;ENSG00000075336:ENST00000169551:exon3:c.A461G:p.E154G;	0.999103144581384	0.982
18	71822637	A	T	18	74155402	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.A461T:p.E154V;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.A461T:p.E154V;ENSG00000075336:ENST00000169551:exon3:c.A461T:p.E154V;	0.99841646518775	0.968
18	71822638	G	A	18	74155403	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon3:c.G462A:p.E154E;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.G462A:p.E154E;ENSG00000075336:ENST00000169551:exon3:c.G462A:p.E154E;	0.999654214560364	0.996
18	71822638	G	C	18	74155403	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.G462C:p.E154D;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.G462C:p.E154D;ENSG00000075336:ENST00000169551:exon3:c.G462C:p.E154D;	0.999988440940599	0.984
18	71822638	G	T	18	74155403	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon3:c.G462T:p.E154D;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon3:c.G462T:p.E154D;ENSG00000075336:ENST00000169551:exon3:c.G462T:p.E154D;	0.999940105308427	0.954
18	71822639	G	A	18	74155404	y	y	splicing	TIMM21(NM_014177:exon3:c.462+1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.462+1G>A;ENST00000580087:exon3:c.462+1G>A;ENST00000579071:exon2:c.131+1G>A)	.	.	0.999981760802075	0.936
18	71822639	G	C	18	74155404	y	y	splicing	TIMM21(NM_014177:exon3:c.462+1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.462+1G>C;ENST00000580087:exon3:c.462+1G>C;ENST00000579071:exon2:c.131+1G>C)	.	.	0.999981760802075	0.934
18	71822639	G	T	18	74155404	y	y	splicing	TIMM21(NM_014177:exon3:c.462+1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.462+1G>T;ENST00000580087:exon3:c.462+1G>T;ENST00000579071:exon2:c.131+1G>T)	.	.	0.999981760802075	0.936
18	71822640	T	A	18	74155405	y	y	splicing	TIMM21(NM_014177:exon3:c.462+2T>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.462+2T>A;ENST00000580087:exon3:c.462+2T>A;ENST00000579071:exon2:c.131+2T>A)	.	.	0.999989917668626	0.926
18	71822640	T	C	18	74155405	y	y	splicing	TIMM21(NM_014177:exon3:c.462+2T>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.462+2T>C;ENST00000580087:exon3:c.462+2T>C;ENST00000579071:exon2:c.131+2T>C)	.	.	0.988809971481602	0.636
18	71822640	T	G	18	74155405	y	y	splicing	TIMM21(NM_014177:exon3:c.462+2T>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon3:c.462+2T>G;ENST00000580087:exon3:c.462+2T>G;ENST00000579071:exon2:c.131+2T>G)	.	.	0.999989917668626	0.926
18	71822641	T	A	18	74155406	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.76899278079001E-5	0.064
18	71822641	T	C	18	74155406	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.05227566401045E-4	0.022
18	71822641	T	G	18	74155406	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.4384708151343E-5	0.032
18	71822642	A	C	18	74155407	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.703391397103496	0.478
18	71822642	A	G	18	74155407	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.268110068816707	0.364
18	71822642	A	T	18	74155407	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.201898541256898	0.352
18	71822643	G	A	18	74155408	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999072405718895	0.976
18	71822643	G	C	18	74155408	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999924748315517	0.926
18	71822643	G	T	18	74155408	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999206571402388	0.878
18	71822644	T	A	18	74155409	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.994692465165684	0.812
18	71822644	T	C	18	74155409	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.987612087954416	0.778
18	71822644	T	G	18	74155409	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.97480944733929	0.73
18	71822645	T	A	18	74155410	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.48225238174322E-4	0.094
18	71822645	T	C	18	74155410	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.4045715014914E-4	0.012
18	71822645	T	G	18	74155410	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.48225238174322E-4	0.014
18	71822646	C	A	18	74155411	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.65768874025377E-5	0.002
18	71822646	C	G	18	74155411	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.51983737362282E-4	0.052
18	71822646	C	T	18	74155411	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.65768874025377E-5	0.0
18	71823460	C	A	18	74156225	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.19415310822882E-5	0.086
18	71823460	C	G	18	74156225	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.19415310822882E-5	0.008
18	71823460	C	T	18	74156225	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.38863475275964E-5	0.002
18	71823461	A	C	18	74156226	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.91761563972371E-5	0.0
18	71823461	A	G	18	74156226	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.91761563972371E-5	0.0
18	71823461	A	T	18	74156226	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.91761563972371E-5	0.0
18	71823462	T	A	18	74156227	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.37205498882069E-5	0.0
18	71823462	T	C	18	74156227	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.97864243205666E-5	0.0
18	71823462	T	G	18	74156227	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.97864243205666E-5	0.0
18	71823463	A	C	18	74156228	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	8.44656497212392E-5	0.002
18	71823463	A	G	18	74156228	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	8.44656497212392E-5	0.002
18	71823463	A	T	18	74156228	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	8.44656497212392E-5	0.0
18	71823464	A	C	18	74156229	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.07620641825897E-5	0.0
18	71823464	A	G	18	74156229	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.07620641825897E-5	0.0
18	71823464	A	T	18	74156229	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.31929338280547E-5	0.004
18	71823465	A	C	18	74156230	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.36195737818257E-5	0.0
18	71823465	A	G	18	74156230	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.36195737818257E-5	0.0
18	71823465	A	T	18	74156230	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.36195737818257E-5	0.0
18	71823466	T	A	18	74156231	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.67738868662274E-5	0.008
18	71823466	T	C	18	74156231	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.08593451297961E-5	0.006
18	71823466	T	G	18	74156231	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.08593451297961E-5	0.006
18	71823467	A	C	18	74156232	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.82524543888414E-5	0.0
18	71823467	A	G	18	74156232	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.82524543888414E-5	0.0
18	71823467	A	T	18	74156232	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.82524543888414E-5	0.064
18	71823468	T	A	18	74156233	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.22319008290309E-5	0.0
18	71823468	T	C	18	74156233	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.22319008290309E-5	0.0
18	71823468	T	G	18	74156233	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.22319008290309E-5	0.0
18	71823469	T	A	18	74156234	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.97864243205666E-5	0.0
18	71823469	T	C	18	74156234	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.22319008290309E-5	0.0
18	71823469	T	G	18	74156234	n	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.22319008290309E-5	0.0
18	71823470	A	C	18	74156235	n	y	intronic	TIMM21	.	.	splicing	ENSG00000075336(ENST00000580087:exon4:c.463-2A>C)	.	.	1.36195737818257E-5	0.0
18	71823470	A	G	18	74156235	n	y	intronic	TIMM21	.	.	splicing	ENSG00000075336(ENST00000580087:exon4:c.463-2A>G)	.	.	1.36195737818257E-5	0.0
18	71823470	A	T	18	74156235	n	y	intronic	TIMM21	.	.	splicing	ENSG00000075336(ENST00000580087:exon4:c.463-2A>T)	.	.	1.36195737818257E-5	0.0
18	71823471	G	A	18	74156236	n	y	intronic	TIMM21	.	.	splicing	ENSG00000075336(ENST00000580087:exon4:c.463-1G>A)	.	.	2.45277156108894E-5	0.0
18	71823471	G	C	18	74156236	n	y	intronic	TIMM21	.	.	splicing	ENSG00000075336(ENST00000580087:exon4:c.463-1G>C)	.	.	2.45277156108894E-5	0.0
18	71823471	G	T	18	74156236	n	y	intronic	TIMM21	.	.	splicing	ENSG00000075336(ENST00000580087:exon4:c.463-1G>T)	.	.	2.45277156108894E-5	0.0
18	71823472	G	A	18	74156237	n	y	intronic	TIMM21	.	.	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon4:c.G463A:p.G155S;	7.33510361847212E-4	0.02
18	71823472	G	C	18	74156237	n	y	intronic	TIMM21	.	.	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon4:c.G463C:p.G155R;	7.09213309395859E-4	0.02
18	71823472	G	T	18	74156237	n	y	intronic	TIMM21	.	.	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon4:c.G463T:p.G155C;	7.09213309395859E-4	0.02
18	71823473	G	A	18	74156238	n	y	intronic	TIMM21	.	.	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon4:c.G464A:p.G155D;	7.09213309395859E-4	0.02
18	71823473	G	C	18	74156238	n	y	intronic	TIMM21	.	.	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon4:c.G464C:p.G155A;	7.09213309395859E-4	0.022
18	71823473	G	T	18	74156238	n	y	intronic	TIMM21	.	.	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000580087:exon4:c.G464T:p.G155V;	7.09213309395859E-4	0.038
18	71825237	C	A	18	74158002	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	2.98940158391697E-4	0.032
18	71825237	C	G	18	74158002	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	2.46594761968226E-4	0.006
18	71825237	C	T	18	74158002	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.65965658795311E-5	0.0
18	71825238	T	A	18	74158003	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.00216606748776836	0.12
18	71825238	T	C	18	74158003	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.69830561418392E-4	0.042
18	71825238	T	G	18	74158003	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.001192124243497	0.17
18	71825239	T	A	18	74158004	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.999889486438912	0.906
18	71825239	T	C	18	74158004	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.83437371689873E-4	0.012
18	71825239	T	G	18	74158004	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.00176640460931539	0.096
18	71825240	G	A	18	74158005	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	3.49858314460169E-5	0.0
18	71825240	G	C	18	74158005	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.27607698609187E-5	0.0
18	71825240	G	T	18	74158005	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.27945872322564E-5	0.0
18	71825241	T	A	18	74158006	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	9.85557513234931E-4	0.042
18	71825241	T	C	18	74158006	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.22439752540112E-5	0.0
18	71825241	T	G	18	74158006	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	3.89888124794426E-4	0.08
18	71825242	T	A	18	74158007	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	3.37063662138901E-4	0.064
18	71825242	T	C	18	74158007	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.36308355477111E-5	0.0
18	71825242	T	G	18	74158007	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	2.43260556125386E-4	0.064
18	71825243	C	A	18	74158008	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	9.25575562161145E-4	0.048
18	71825243	C	G	18	74158008	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	4.91989861034299E-4	0.034
18	71825243	C	T	18	74158008	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	2.88693659905691E-5	0.0
18	71825244	T	A	18	74158009	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.996608814895986	0.786
18	71825244	T	C	18	74158009	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	5.36821051752627E-5	0.042
18	71825244	T	G	18	74158009	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.00137652956716572	0.144
18	71825245	G	A	18	74158010	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.45105475095057E-4	0.002
18	71825245	G	C	18	74158010	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.23964873441934E-4	0.0
18	71825245	G	T	18	74158010	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.2375341171639E-4	0.0
18	71825246	C	A	18	74158011	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.689240640649645	0.526
18	71825246	C	G	18	74158011	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.999555150095265	0.924
18	71825246	C	T	18	74158011	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.00752300744221273	0.182
18	71825247	A	C	18	74158012	y	y	splicing	TIMM21(NM_014177:exon4:c.463-2A>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.463-2A>C;ENST00000579071:exon3:c.132-2A>C)	.	.	0.999976526166493	0.89
18	71825247	A	G	18	74158012	y	y	splicing	TIMM21(NM_014177:exon4:c.463-2A>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.463-2A>G;ENST00000579071:exon3:c.132-2A>G)	.	.	0.999976526166493	0.89
18	71825247	A	T	18	74158012	y	y	splicing	TIMM21(NM_014177:exon4:c.463-2A>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.463-2A>T;ENST00000579071:exon3:c.132-2A>T)	.	.	0.999976526166493	0.892
18	71825248	G	A	18	74158013	y	y	splicing	TIMM21(NM_014177:exon4:c.463-1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.463-1G>A;ENST00000579071:exon3:c.132-1G>A)	.	.	0.999960200702261	0.93
18	71825248	G	C	18	74158013	y	y	splicing	TIMM21(NM_014177:exon4:c.463-1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.463-1G>C;ENST00000579071:exon3:c.132-1G>C)	.	.	0.99996748057446	0.898
18	71825248	G	T	18	74158013	y	y	splicing	TIMM21(NM_014177:exon4:c.463-1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.463-1G>T;ENST00000579071:exon3:c.132-1G>T)	.	.	0.999945530492988	0.886
18	71825249	G	A	18	74158014	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.G463A:p.V155M;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.G463A:p.V155M;	0.155694103459041	0.538
18	71825249	G	C	18	74158014	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.G463C:p.V155L;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.G463C:p.V155L;	0.864319367389446	0.672
18	71825249	G	T	18	74158014	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.G463T:p.V155L;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.G463T:p.V155L;	0.971185630809502	0.66
18	71825250	T	A	18	74158015	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.T464A:p.V155E;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.T464A:p.V155E;	0.0243846453611445	0.166
18	71825250	T	C	18	74158015	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.T464C:p.V155A;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.T464C:p.V155A;	0.0106151937535228	0.126
18	71825250	T	G	18	74158015	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.T464G:p.V155G;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.T464G:p.V155G;	0.011626014792137	0.15
18	71825320	C	A	18	74158085	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon4:c.C534A:p.V178V;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.C534A:p.V178V;	3.60791734018909E-4	0.012
18	71825320	C	G	18	74158085	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon4:c.C534G:p.V178V;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.C534G:p.V178V;	0.00360946459483102	0.132
18	71825320	C	T	18	74158085	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon4:c.C534T:p.V178V;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.C534T:p.V178V;	0.748686402538503	0.55
18	71825321	A	C	18	74158086	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon4:c.A535C:p.R179R;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.A535C:p.R179R;	0.97068953630909	0.862
18	71825321	A	G	18	74158086	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.A535G:p.R179G;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.A535G:p.R179G;	0.987176010539082	0.866
18	71825321	A	T	18	74158086	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.A535T:p.R179W;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.A535T:p.R179W;	0.995538821265338	0.902
18	71825322	G	A	18	74158087	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.G536A:p.R179K;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.G536A:p.R179K;	0.999976289587731	1.0
18	71825322	G	C	18	74158087	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.G536C:p.R179T;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.G536C:p.R179T;	0.999994787772858	0.992
18	71825322	G	T	18	74158087	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon4:c.G536T:p.R179M;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon4:c.G536T:p.R179M;	0.999987010995458	0.988
18	71825323	G	A	18	74158088	y	y	splicing	TIMM21(NM_014177:exon4:c.536+1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.536+1G>A;ENST00000579071:exon3:c.205+1G>A)	.	.	0.999938422912956	0.946
18	71825323	G	C	18	74158088	y	y	splicing	TIMM21(NM_014177:exon4:c.536+1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.536+1G>C;ENST00000579071:exon3:c.205+1G>C)	.	.	0.999938990645747	0.944
18	71825323	G	T	18	74158088	y	y	splicing	TIMM21(NM_014177:exon4:c.536+1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.536+1G>T;ENST00000579071:exon3:c.205+1G>T)	.	.	0.999938990645747	0.946
18	71825324	T	A	18	74158089	y	y	splicing	TIMM21(NM_014177:exon4:c.536+2T>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.536+2T>A;ENST00000579071:exon3:c.205+2T>A)	.	.	0.999946188727699	0.952
18	71825324	T	C	18	74158089	y	y	splicing	TIMM21(NM_014177:exon4:c.536+2T>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.536+2T>C;ENST00000579071:exon3:c.205+2T>C)	.	.	0.961956094029623	0.594
18	71825324	T	G	18	74158089	y	y	splicing	TIMM21(NM_014177:exon4:c.536+2T>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon4:c.536+2T>G;ENST00000579071:exon3:c.205+2T>G)	.	.	0.999946188727699	0.95
18	71825325	A	C	18	74158090	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999917710869518	0.938
18	71825325	A	G	18	74158090	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.945784488132167	0.788
18	71825325	A	T	18	74158090	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999918266189133	0.92
18	71825326	C	A	18	74158091	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.458959580385E-4	0.092
18	71825326	C	G	18	74158091	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.02317457606664E-4	0.09
18	71825326	C	T	18	74158091	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.07866947089214E-4	0.028
18	71825327	T	A	18	74158092	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.55459661695013E-5	0.016
18	71825327	T	C	18	74158092	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.64303547675103E-5	0.002
18	71825327	T	G	18	74158092	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.48845879011676E-5	0.008
18	71825328	G	A	18	74158093	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.35419624246427E-4	0.004
18	71825328	G	C	18	74158093	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00212454412510332	0.018
18	71825328	G	T	18	74158093	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.97716923002144E-4	0.056
18	71825329	T	A	18	74158094	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.81918306900755E-4	0.0
18	71825329	T	C	18	74158094	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.95416100750369E-5	0.002
18	71825329	T	G	18	74158094	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.31391463977975E-5	0.006
18	71825330	G	A	18	74158095	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.38754606676552E-6	0.0
18	71825330	G	C	18	74158095	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.04900693216345E-6	0.0
18	71825330	G	T	18	74158095	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	8.6815803950322E-6	0.0
18	71825394	T	A	18	74158159	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0122832081104428	0.208
18	71825394	T	C	18	74158159	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.36894390658498E-4	0.008
18	71825394	T	G	18	74158159	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0126795550934497	0.18
18	71825395	T	A	18	74158160	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.12682680075686	0.374
18	71825395	T	C	18	74158160	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00145495116405308	0.09
18	71825395	T	G	18	74158160	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.08740798556394	0.406
18	71825396	T	A	18	74158161	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0110134721071929	0.2
18	71825396	T	C	18	74158161	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.94585404947784E-5	0.004
18	71825396	T	G	18	74158161	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00500279481503874	0.188
18	71825397	T	A	18	74158162	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.321236262796152	0.468
18	71825397	T	C	18	74158162	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	3.83469752840616E-4	0.004
18	71825397	T	G	18	74158162	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0435567151390778	0.294
18	71825398	C	A	18	74158163	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00258528869942727	0.082
18	71825398	C	G	18	74158163	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	7.24576475177244E-4	0.044
18	71825398	C	T	18	74158163	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.96818012129428E-4	0.004
18	71825399	T	A	18	74158164	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0217263997525817	0.092
18	71825399	T	C	18	74158164	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	4.35606693582185E-5	0.0
18	71825399	T	G	18	74158164	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.00772036900523722	0.086
18	71825400	C	A	18	74158165	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.793113903781139	0.754
18	71825400	C	G	18	74158165	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	6.59098766506891E-5	0.032
18	71825400	C	T	18	74158165	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	2.85375656538541E-5	0.0
18	71825401	G	A	18	74158166	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.92780622847185E-5	0.0
18	71825401	G	C	18	74158166	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.24763252493117E-5	0.0
18	71825401	G	T	18	74158166	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.97552680741509E-5	0.01
18	71825402	A	C	18	74158167	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	5.09596620177425E-5	0.002
18	71825402	A	G	18	74158167	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	9.16817989234327E-5	0.014
18	71825402	A	T	18	74158167	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	1.75652276329933E-4	0.01
18	71825403	C	A	18	74158168	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.523976325682291	0.35
18	71825403	C	G	18	74158168	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.999740262936133	0.892
18	71825403	C	T	18	74158168	y	y	intronic	TIMM21	.	.	intronic	ENSG00000075336	.	.	0.0364943609367487	0.216
18	71825404	A	C	18	74158169	y	y	splicing	TIMM21(NM_014177:exon5:c.537-2A>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon5:c.537-2A>C;ENST00000579071:exon4:c.206-2A>C)	.	.	0.999974839014821	0.846
18	71825404	A	G	18	74158169	y	y	splicing	TIMM21(NM_014177:exon5:c.537-2A>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon5:c.537-2A>G;ENST00000579071:exon4:c.206-2A>G)	.	.	0.999974839014821	0.846
18	71825404	A	T	18	74158169	y	y	splicing	TIMM21(NM_014177:exon5:c.537-2A>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon5:c.537-2A>T;ENST00000579071:exon4:c.206-2A>T)	.	.	0.999974839014821	0.852
18	71825405	G	A	18	74158170	y	y	splicing	TIMM21(NM_014177:exon5:c.537-1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon5:c.537-1G>A;ENST00000579071:exon4:c.206-1G>A)	.	.	0.999965143305126	0.872
18	71825405	G	C	18	74158170	y	y	splicing	TIMM21(NM_014177:exon5:c.537-1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon5:c.537-1G>C;ENST00000579071:exon4:c.206-1G>C)	.	.	0.999965143305126	0.854
18	71825405	G	T	18	74158170	y	y	splicing	TIMM21(NM_014177:exon5:c.537-1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon5:c.537-1G>T;ENST00000579071:exon4:c.206-1G>T)	.	.	0.999965143305126	0.854
18	71825406	G	A	18	74158171	y	y	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon5:c.G537A:p.R179R;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.G537A:p.R179R;	1.16930173190042E-4	0.058
18	71825406	G	C	18	74158171	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.G537C:p.R179S;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.G537C:p.R179S;	0.00320450181978483	0.092
18	71825406	G	T	18	74158171	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.G537T:p.R179S;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.G537T:p.R179S;	0.0279479468351959	0.25
18	71825407	T	A	18	74158172	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.T538A:p.F180I;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.T538A:p.F180I;	0.00270110059009967	0.04
18	71825407	T	C	18	74158172	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.T538C:p.F180L;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.T538C:p.F180L;	0.00317477271157569	0.092
18	71825407	T	G	18	74158172	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.T538G:p.F180V;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.T538G:p.F180V;	0.00147288613940564	0.056
18	71825509	G	A	18	74158274	y	n	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.G640A:p.E214K;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.G640A:p.E214K;	0.00384534066435364	0.104
18	71825509	G	C	18	74158274	y	n	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.G640C:p.E214Q;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.G640C:p.E214Q;	0.00224070126565495	0.028
18	71825509	G	T	18	74158274	y	n	exonic	TIMM21	stopgain SNV	TIMM21:NM_014177:exon5:c.G640T:p.E214X;	exonic	ENSG00000075336	stopgain SNV	ENSG00000075336:ENST00000169551:exon5:c.G640T:p.E214X;	0.92210567961154	0.654
18	71825510	A	C	18	74158275	y	n	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.A641C:p.E214A;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.A641C:p.E214A;	0.89863296304066	0.74
18	71825510	A	G	18	74158275	y	n	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.A641G:p.E214G;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.A641G:p.E214G;	0.999722923566487	0.886
18	71825510	A	T	18	74158275	y	n	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.A641T:p.E214V;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.A641T:p.E214V;	0.999346007818305	0.808
18	71825511	G	A	18	74158276	y	n	exonic	TIMM21	synonymous SNV	TIMM21:NM_014177:exon5:c.G642A:p.E214E;	exonic	ENSG00000075336	synonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.G642A:p.E214E;	0.999977080099296	0.988
18	71825511	G	C	18	74158276	y	n	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.G642C:p.E214D;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.G642C:p.E214D;	0.999994714500712	1.0
18	71825511	G	T	18	74158276	y	n	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon5:c.G642T:p.E214D;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon5:c.G642T:p.E214D;	0.99996301644905	1.0
18	71825512	G	A	18	74158277	y	n	splicing	TIMM21(NM_014177:exon5:c.642+1G>A)	.	.	exonic;splicing	ENSG00000075336;ENSG00000075336(ENST00000169551:exon5:c.642+1G>A)	unknown	UNKNOWN	0.999930528371628	0.946
18	71825512	G	C	18	74158277	y	n	splicing	TIMM21(NM_014177:exon5:c.642+1G>C)	.	.	exonic;splicing	ENSG00000075336;ENSG00000075336(ENST00000169551:exon5:c.642+1G>C)	unknown	UNKNOWN	0.999931168886061	0.95
18	71825512	G	T	18	74158277	y	n	splicing	TIMM21(NM_014177:exon5:c.642+1G>T)	.	.	exonic;splicing	ENSG00000075336;ENSG00000075336(ENST00000169551:exon5:c.642+1G>T)	unknown	UNKNOWN	0.999931168886061	0.952
18	71825513	T	A	18	74158278	y	n	splicing	TIMM21(NM_014177:exon5:c.642+2T>A)	.	.	exonic;splicing	ENSG00000075336;ENSG00000075336(ENST00000169551:exon5:c.642+2T>A)	unknown	UNKNOWN	0.99993928974862	0.958
18	71825513	T	C	18	74158278	y	n	splicing	TIMM21(NM_014177:exon5:c.642+2T>C)	.	.	exonic;splicing	ENSG00000075336;ENSG00000075336(ENST00000169551:exon5:c.642+2T>C)	unknown	UNKNOWN	0.999526252925348	0.942
18	71825513	T	G	18	74158278	y	n	splicing	TIMM21(NM_014177:exon5:c.642+2T>G)	.	.	exonic;splicing	ENSG00000075336;ENSG00000075336(ENST00000169551:exon5:c.642+2T>G)	unknown	UNKNOWN	0.99993928974862	0.956
18	71825514	G	A	18	74158279	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	3.39515028193543E-4	0.106
18	71825514	G	C	18	74158279	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	0.771166057775966	0.534
18	71825514	G	T	18	74158279	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	0.00639017772859153	0.236
18	71825515	T	A	18	74158280	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	3.52390670161728E-5	0.01
18	71825515	T	C	18	74158280	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	3.97646871968117E-5	0.072
18	71825515	T	G	18	74158280	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	6.52126068165696E-5	0.04
18	71825516	G	A	18	74158281	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	0.999992931964707	0.976
18	71825516	G	C	18	74158281	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	0.998776683667997	0.924
18	71825516	G	T	18	74158281	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	0.999954335945449	0.964
18	71825517	G	A	18	74158282	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	1.08650678573368E-4	0.032
18	71825517	G	C	18	74158282	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	3.24111680889084E-5	0.046
18	71825517	G	T	18	74158282	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	2.0723429389293E-5	0.0
18	71825518	G	A	18	74158283	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	0.00316804431897276	0.028
18	71825518	G	C	18	74158283	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	5.33186092532428E-4	0.002
18	71825518	G	T	18	74158283	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	0.00101956089699629	0.028
18	71825519	A	C	18	74158284	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	7.62673906209323E-5	0.01
18	71825519	A	G	18	74158284	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	1.28173684718235E-4	0.066
18	71825519	A	T	18	74158284	y	n	intronic	TIMM21	.	.	exonic	ENSG00000075336	unknown	UNKNOWN	2.98702628355569E-4	0.042
18	71825599	C	A	18	74158364	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.00234031212318867	0.034
18	71825599	C	G	18	74158364	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.999907192583887	0.972
18	71825599	C	T	18	74158364	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.28347679924705E-4	0.0
18	71825600	A	C	18	74158365	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	5.50042539448159E-5	0.028
18	71825600	A	G	18	74158365	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	3.00028614330193E-5	0.036
18	71825600	A	T	18	74158365	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	7.22352855375531E-5	0.078
18	71825601	T	A	18	74158366	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.964276215392401	0.706
18	71825601	T	C	18	74158366	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.0109977859617913	0.134
18	71825601	T	G	18	74158366	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.999949367699058	0.964
18	71825602	T	A	18	74158367	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.321290658950891	0.382
18	71825602	T	C	18	74158367	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	8.25554927713997E-4	0.132
18	71825602	T	G	18	74158367	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.147114786606029	0.438
18	71825603	T	A	18	74158368	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.156066846545612	0.264
18	71825603	T	C	18	74158368	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.00346343336948584	0.082
18	71825603	T	G	18	74158368	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.00871168635861531	0.184
18	71825604	T	A	18	74158369	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.018522194508576	0.072
18	71825604	T	C	18	74158369	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	8.84451173594519E-5	0.0
18	71825604	T	G	18	74158369	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.0126674930661284	0.062
18	71825605	T	A	18	74158370	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.992820446182086	0.884
18	71825605	T	C	18	74158370	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.0053834454796057	0.124
18	71825605	T	G	18	74158370	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.992820446182086	0.916
18	71825606	T	A	18	74158371	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.957735104883318	0.636
18	71825606	T	C	18	74158371	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.121149777388144	0.256
18	71825606	T	G	18	74158371	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.99452212965642	0.688
18	71825607	T	A	18	74158372	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.26474818732728E-4	0.006
18	71825607	T	C	18	74158372	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	1.82653188964315E-4	0.01
18	71825607	T	G	18	74158372	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	3.91048424469311E-4	0.008
18	71825608	C	A	18	74158373	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.985240413575483	0.85
18	71825608	C	G	18	74158373	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.999677513040553	0.974
18	71825608	C	T	18	74158373	y	y	intronic	TIMM21	.	.	UTR3	ENSG00000075336	.	.	0.0285265090438478	0.106
18	71825609	A	C	18	74158374	y	y	splicing	TIMM21(NM_014177:exon6:c.643-2A>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon6:c.643-2A>C)	.	.	0.999988247793601	0.936
18	71825609	A	G	18	74158374	y	y	splicing	TIMM21(NM_014177:exon6:c.643-2A>G)	.	.	splicing	ENSG00000075336(ENST00000169551:exon6:c.643-2A>G)	.	.	0.999988247793601	0.936
18	71825609	A	T	18	74158374	y	y	splicing	TIMM21(NM_014177:exon6:c.643-2A>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon6:c.643-2A>T)	.	.	0.999988247793601	0.936
18	71825610	G	A	18	74158375	y	y	splicing	TIMM21(NM_014177:exon6:c.643-1G>A)	.	.	splicing	ENSG00000075336(ENST00000169551:exon6:c.643-1G>A)	.	.	0.999989072007339	0.944
18	71825610	G	C	18	74158375	y	y	splicing	TIMM21(NM_014177:exon6:c.643-1G>C)	.	.	splicing	ENSG00000075336(ENST00000169551:exon6:c.643-1G>C)	.	.	0.999989072007339	0.944
18	71825610	G	T	18	74158375	y	y	splicing	TIMM21(NM_014177:exon6:c.643-1G>T)	.	.	splicing	ENSG00000075336(ENST00000169551:exon6:c.643-1G>T)	.	.	0.999989072007339	0.944
18	71825611	A	C	18	74158376	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon6:c.A643C:p.N215H;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon6:c.A643C:p.N215H;	0.735426044570947	0.578
18	71825611	A	G	18	74158376	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon6:c.A643G:p.N215D;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon6:c.A643G:p.N215D;	0.374242893983682	0.432
18	71825611	A	T	18	74158376	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon6:c.A643T:p.N215Y;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon6:c.A643T:p.N215Y;	0.794500120317923	0.522
18	71825612	A	C	18	74158377	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon6:c.A644C:p.N215T;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon6:c.A644C:p.N215T;	0.754445307446271	0.654
18	71825612	A	G	18	74158377	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon6:c.A644G:p.N215S;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon6:c.A644G:p.N215S;	0.815873229270186	0.638
18	71825612	A	T	18	74158377	y	y	exonic	TIMM21	nonsynonymous SNV	TIMM21:NM_014177:exon6:c.A644T:p.N215I;	exonic	ENSG00000075336	nonsynonymous SNV	ENSG00000075336:ENST00000169551:exon6:c.A644T:p.N215I;	0.612736681794089	0.568
18	71920899	A	C	18	74253664	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon5:c.T325G:p.W109G;CYB5A:NM_001190807:exon4:c.T295G:p.W99G;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon5:c.T325G:p.W109G;ENSG00000166347:ENST00000299438:exon5:c.T103G:p.W35G;ENSG00000166347:ENST00000397914:exon4:c.T295G:p.W99G;	0.00869704985360612	0.082
18	71920899	A	G	18	74253664	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon5:c.T325C:p.W109R;CYB5A:NM_001190807:exon4:c.T295C:p.W99R;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon5:c.T325C:p.W109R;ENSG00000166347:ENST00000299438:exon5:c.T103C:p.W35R;ENSG00000166347:ENST00000397914:exon4:c.T295C:p.W99R;	0.138546291139046	0.294
18	71920899	A	T	18	74253664	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon5:c.T325A:p.W109R;CYB5A:NM_001190807:exon4:c.T295A:p.W99R;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon5:c.T325A:p.W109R;ENSG00000166347:ENST00000299438:exon5:c.T103A:p.W35R;ENSG00000166347:ENST00000397914:exon4:c.T295A:p.W99R;	0.228366314588514	0.418
18	71920900	A	C	18	74253665	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon5:c.T324G:p.S108R;CYB5A:NM_001190807:exon4:c.T294G:p.S98R;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon5:c.T324G:p.S108R;ENSG00000166347:ENST00000299438:exon5:c.T102G:p.S34R;ENSG00000166347:ENST00000397914:exon4:c.T294G:p.S98R;	1.37470981647542E-4	0.262
18	71920900	A	G	18	74253665	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_148923:exon5:c.T324C:p.S108S;CYB5A:NM_001190807:exon4:c.T294C:p.S98S;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon5:c.T324C:p.S108S;ENSG00000166347:ENST00000299438:exon5:c.T102C:p.S34S;ENSG00000166347:ENST00000397914:exon4:c.T294C:p.S98S;	4.94020464565186E-5	0.012
18	71920900	A	T	18	74253665	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon5:c.T324A:p.S108R;CYB5A:NM_001190807:exon4:c.T294A:p.S98R;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon5:c.T324A:p.S108R;ENSG00000166347:ENST00000299438:exon5:c.T102A:p.S34R;ENSG00000166347:ENST00000397914:exon4:c.T294A:p.S98R;	3.09389207171101E-5	0.162
18	71920901	C	A	18	74253666	y	y	splicing	CYB5A(NM_001190807:exon5:c.294-1G>T;NM_001914:exon7:c.348-1G>T;NM_148923:exon6:c.324-1G>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon6:c.324-1G>T;ENST00000299438:exon6:c.102-1G>T;ENST00000494131:exon7:c.348-1G>T;ENST00000397914:exon5:c.294-1G>T)	.	.	0.999990361384395	0.938
18	71920901	C	G	18	74253666	y	y	splicing	CYB5A(NM_001190807:exon5:c.294-1G>C;NM_001914:exon7:c.348-1G>C;NM_148923:exon6:c.324-1G>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon6:c.324-1G>C;ENST00000299438:exon6:c.102-1G>C;ENST00000494131:exon7:c.348-1G>C;ENST00000397914:exon5:c.294-1G>C)	.	.	0.999990361384395	0.938
18	71920901	C	T	18	74253666	y	y	splicing	CYB5A(NM_001190807:exon5:c.294-1G>A;NM_001914:exon7:c.348-1G>A;NM_148923:exon6:c.324-1G>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon6:c.324-1G>A;ENST00000299438:exon6:c.102-1G>A;ENST00000494131:exon7:c.348-1G>A;ENST00000397914:exon5:c.294-1G>A)	.	.	0.999990361384395	0.938
18	71920902	T	A	18	74253667	y	y	splicing	CYB5A(NM_001190807:exon5:c.294-2A>T;NM_001914:exon7:c.348-2A>T;NM_148923:exon6:c.324-2A>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon6:c.324-2A>T;ENST00000299438:exon6:c.102-2A>T;ENST00000494131:exon7:c.348-2A>T;ENST00000397914:exon5:c.294-2A>T)	.	.	0.999988247793601	0.93
18	71920902	T	C	18	74253667	y	y	splicing	CYB5A(NM_001190807:exon5:c.294-2A>G;NM_001914:exon7:c.348-2A>G;NM_148923:exon6:c.324-2A>G)	.	.	splicing	ENSG00000166347(ENST00000340533:exon6:c.324-2A>G;ENST00000299438:exon6:c.102-2A>G;ENST00000494131:exon7:c.348-2A>G;ENST00000397914:exon5:c.294-2A>G)	.	.	0.999988247793601	0.928
18	71920902	T	G	18	74253667	y	y	splicing	CYB5A(NM_001190807:exon5:c.294-2A>C;NM_001914:exon7:c.348-2A>C;NM_148923:exon6:c.324-2A>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon6:c.324-2A>C;ENST00000299438:exon6:c.102-2A>C;ENST00000494131:exon7:c.348-2A>C;ENST00000397914:exon5:c.294-2A>C)	.	.	0.999988247793601	0.928
18	71920903	A	C	18	74253668	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.978179316480671	0.678
18	71920903	A	G	18	74253668	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.86022177554222E-5	0.014
18	71920903	A	T	18	74253668	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00586652789137744	0.194
18	71920904	G	A	18	74253669	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.49626784531154E-5	0.0
18	71920904	G	C	18	74253669	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.07004165494954E-5	0.0
18	71920904	G	T	18	74253669	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.06181198461135E-5	0.002
18	71920905	A	C	18	74253670	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.217765838793623	0.492
18	71920905	A	G	18	74253670	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00117510666373383	0.036
18	71920905	A	T	18	74253670	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.199464316909043	0.512
18	71920906	A	C	18	74253671	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.229219083805709	0.478
18	71920906	A	G	18	74253671	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.20350120634905E-4	0.006
18	71920906	A	T	18	74253671	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.247784524491256	0.48
18	71920907	A	C	18	74253672	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0271633160100553	0.298
18	71920907	A	G	18	74253672	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.65088852760246E-4	0.004
18	71920907	A	T	18	74253672	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.213196763066022	0.374
18	71920908	G	A	18	74253673	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.74306733359911E-5	0.004
18	71920908	G	C	18	74253673	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.93137565501994E-4	0.038
18	71920908	G	T	18	74253673	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00166532125419372	0.068
18	71920909	A	C	18	74253674	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00729799027414017	0.204
18	71920909	A	G	18	74253674	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.04857929750379E-4	0.006
18	71920909	A	T	18	74253674	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0176979142013717	0.236
18	71920910	C	A	18	74253675	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.88204822945631E-4	0.002
18	71920910	C	G	18	74253675	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.56701687194915E-4	0.004
18	71920910	C	T	18	74253675	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.65990979195102E-4	0.036
18	71920911	A	C	18	74253676	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.283734964795146	0.576
18	71920911	A	G	18	74253676	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00777772346248774	0.194
18	71920911	A	T	18	74253676	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999546812858678	0.956
18	71920912	C	A	18	74253677	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.55570268569359E-5	0.004
18	71920912	C	G	18	74253677	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.07479908640066E-5	0.008
18	71920912	C	T	18	74253677	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.07882431448018E-4	0.008
18	71922968	C	A	18	74255733	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00615505527348974	0.062
18	71922968	C	G	18	74255733	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00621935892348874	0.064
18	71922968	C	T	18	74255733	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00687757744861719	0.066
18	71922969	C	A	18	74255734	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.34112999675197E-4	0.018
18	71922969	C	G	18	74255734	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	8.01024411879794E-4	0.006
18	71922969	C	T	18	74255734	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.92697715634273E-4	0.002
18	71922970	A	C	18	74255735	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	9.20838532700801E-4	0.148
18	71922970	A	G	18	74255735	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00786662206917534	0.23
18	71922970	A	T	18	74255735	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0103483874662851	0.242
18	71922971	C	A	18	74255736	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.987801641586418	0.726
18	71922971	C	G	18	74255736	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.993332849681921	0.71
18	71922971	C	T	18	74255736	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.986899408937479	0.676
18	71922972	A	C	18	74255737	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	8.59877417112052E-5	0.002
18	71922972	A	G	18	74255737	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	5.07557228642881E-5	0.004
18	71922972	A	T	18	74255737	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.58779717153292E-5	0.018
18	71922973	T	A	18	74255738	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.978636901760846	0.724
18	71922973	T	C	18	74255738	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.661336575748398	0.75
18	71922973	T	G	18	74255738	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.993759676382115	0.716
18	71922974	A	C	18	74255739	y	y	splicing	CYB5A(NM_001190807:exon4:c.293+2T>G;NM_001914:exon6:c.347+2T>G;NM_148923:exon5:c.323+2T>G)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.323+2T>G;ENST00000299438:exon5:c.101+2T>G;ENST00000494131:exon6:c.347+2T>G;ENST00000397914:exon4:c.293+2T>G)	.	.	0.999988247793601	0.928
18	71922974	A	G	18	74255739	y	y	splicing	CYB5A(NM_001190807:exon4:c.293+2T>C;NM_001914:exon6:c.347+2T>C;NM_148923:exon5:c.323+2T>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.323+2T>C;ENST00000299438:exon5:c.101+2T>C;ENST00000494131:exon6:c.347+2T>C;ENST00000397914:exon4:c.293+2T>C)	.	.	0.991587422673147	0.69
18	71922974	A	T	18	74255739	y	y	splicing	CYB5A(NM_001190807:exon4:c.293+2T>A;NM_001914:exon6:c.347+2T>A;NM_148923:exon5:c.323+2T>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.323+2T>A;ENST00000299438:exon5:c.101+2T>A;ENST00000494131:exon6:c.347+2T>A;ENST00000397914:exon4:c.293+2T>A)	.	.	0.999988247793601	0.928
18	71922975	C	A	18	74255740	y	y	splicing	CYB5A(NM_001190807:exon4:c.293+1G>T;NM_001914:exon6:c.347+1G>T;NM_148923:exon5:c.323+1G>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.323+1G>T;ENST00000299438:exon5:c.101+1G>T;ENST00000494131:exon6:c.347+1G>T;ENST00000397914:exon4:c.293+1G>T)	.	.	0.999990361384395	0.938
18	71922975	C	G	18	74255740	y	y	splicing	CYB5A(NM_001190807:exon4:c.293+1G>C;NM_001914:exon6:c.347+1G>C;NM_148923:exon5:c.323+1G>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.323+1G>C;ENST00000299438:exon5:c.101+1G>C;ENST00000494131:exon6:c.347+1G>C;ENST00000397914:exon4:c.293+1G>C)	.	.	0.999990361384395	0.938
18	71922975	C	T	18	74255740	y	y	splicing	CYB5A(NM_001190807:exon4:c.293+1G>A;NM_001914:exon6:c.347+1G>A;NM_148923:exon5:c.323+1G>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.323+1G>A;ENST00000299438:exon5:c.101+1G>A;ENST00000494131:exon6:c.347+1G>A;ENST00000397914:exon4:c.293+1G>A)	.	.	0.999990361384395	0.938
18	71922976	C	A	18	74255741	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.G323T:p.S108I;CYB5A:NM_001190807:exon3:c.G293T:p.S98I;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.G323T:p.S108I;ENSG00000166347:ENST00000299438:exon4:c.G101T:p.S34I;ENSG00000166347:ENST00000397914:exon3:c.G293T:p.S98I;	0.999987936048158	0.996
18	71922976	C	G	18	74255741	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.G323C:p.S108T;CYB5A:NM_001190807:exon3:c.G293C:p.S98T;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.G323C:p.S108T;ENSG00000166347:ENST00000299438:exon4:c.G101C:p.S34T;ENSG00000166347:ENST00000397914:exon3:c.G293C:p.S98T;	0.999977133757321	0.984
18	71922976	C	T	18	74255741	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.G323A:p.S108N;CYB5A:NM_001190807:exon3:c.G293A:p.S98N;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.G323A:p.S108N;ENSG00000166347:ENST00000299438:exon4:c.G101A:p.S34N;ENSG00000166347:ENST00000397914:exon3:c.G293A:p.S98N;	0.999962064156398	0.996
18	71922977	T	A	18	74255742	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.A322T:p.S108C;CYB5A:NM_001190807:exon3:c.A292T:p.S98C;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.A322T:p.S108C;ENSG00000166347:ENST00000299438:exon4:c.A100T:p.S34C;ENSG00000166347:ENST00000397914:exon3:c.A292T:p.S98C;	0.999621014317694	0.99
18	71922977	T	C	18	74255742	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.A322G:p.S108G;CYB5A:NM_001190807:exon3:c.A292G:p.S98G;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.A322G:p.S108G;ENSG00000166347:ENST00000299438:exon4:c.A100G:p.S34G;ENSG00000166347:ENST00000397914:exon3:c.A292G:p.S98G;	0.998122960293937	0.952
18	71922977	T	G	18	74255742	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.A322C:p.S108R;CYB5A:NM_001190807:exon3:c.A292C:p.S98R;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.A322C:p.S108R;ENSG00000166347:ENST00000299438:exon4:c.A100C:p.S34R;ENSG00000166347:ENST00000397914:exon3:c.A292C:p.S98R;	0.998327236540091	0.974
18	71922978	G	A	18	74255743	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_148923:exon4:c.C321T:p.S107S;CYB5A:NM_001190807:exon3:c.C291T:p.S97S;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.C321T:p.S107S;ENSG00000166347:ENST00000299438:exon4:c.C99T:p.S33S;ENSG00000166347:ENST00000397914:exon3:c.C291T:p.S97S;	0.346350633753008	0.404
18	71922978	G	C	18	74255743	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_148923:exon4:c.C321G:p.S107S;CYB5A:NM_001190807:exon3:c.C291G:p.S97S;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.C321G:p.S107S;ENSG00000166347:ENST00000299438:exon4:c.C99G:p.S33S;ENSG00000166347:ENST00000397914:exon3:c.C291G:p.S97S;	0.00382834288241381	0.106
18	71922978	G	T	18	74255743	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_148923:exon4:c.C321A:p.S107S;CYB5A:NM_001190807:exon3:c.C291A:p.S97S;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.C321A:p.S107S;ENSG00000166347:ENST00000299438:exon4:c.C99A:p.S33S;ENSG00000166347:ENST00000397914:exon3:c.C291A:p.S97S;	0.00767842355996787	0.136
18	71923009	T	A	18	74255774	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.A290T:p.E97V;CYB5A:NM_001190807:exon3:c.A260T:p.E87V;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.A290T:p.E97V;ENSG00000166347:ENST00000299438:exon4:c.A68T:p.E23V;ENSG00000166347:ENST00000397914:exon3:c.A260T:p.E87V;	0.530347269012043	0.64
18	71923009	T	C	18	74255774	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.A290G:p.E97G;CYB5A:NM_001190807:exon3:c.A260G:p.E87G;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.A290G:p.E97G;ENSG00000166347:ENST00000299438:exon4:c.A68G:p.E23G;ENSG00000166347:ENST00000397914:exon3:c.A260G:p.E87G;	0.573344631158414	0.442
18	71923009	T	G	18	74255774	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.A290C:p.E97A;CYB5A:NM_001190807:exon3:c.A260C:p.E87A;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.A290C:p.E97A;ENSG00000166347:ENST00000299438:exon4:c.A68C:p.E23A;ENSG00000166347:ENST00000397914:exon3:c.A260C:p.E87A;	0.743221450984359	0.654
18	71923010	C	A	18	74255775	y	y	exonic	CYB5A	stopgain SNV	CYB5A:NM_148923:exon4:c.G289T:p.E97X;CYB5A:NM_001190807:exon3:c.G259T:p.E87X;	exonic	ENSG00000166347	stopgain SNV	ENSG00000166347:ENST00000340533:exon4:c.G289T:p.E97X;ENSG00000166347:ENST00000299438:exon4:c.G67T:p.E23X;ENSG00000166347:ENST00000397914:exon3:c.G259T:p.E87X;	0.999780728822099	0.986
18	71923010	C	G	18	74255775	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.G289C:p.E97Q;CYB5A:NM_001190807:exon3:c.G259C:p.E87Q;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.G289C:p.E97Q;ENSG00000166347:ENST00000299438:exon4:c.G67C:p.E23Q;ENSG00000166347:ENST00000397914:exon3:c.G259C:p.E87Q;	0.9993022842888	0.954
18	71923010	C	T	18	74255775	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_148923:exon4:c.G289A:p.E97K;CYB5A:NM_001190807:exon3:c.G259A:p.E87K;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon4:c.G289A:p.E97K;ENSG00000166347:ENST00000299438:exon4:c.G67A:p.E23K;ENSG00000166347:ENST00000397914:exon3:c.G259A:p.E87K;	0.998905363367788	0.854
18	71923011	C	A	18	74255776	y	y	splicing	CYB5A(NM_001190807:exon4:c.259-1G>T;NM_001914:exon6:c.313-1G>T;NM_148923:exon5:c.289-1G>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.289-1G>T;ENST00000299438:exon5:c.67-1G>T;ENST00000494131:exon6:c.313-1G>T;ENST00000397914:exon4:c.259-1G>T)	.	.	0.999990361384395	0.938
18	71923011	C	G	18	74255776	y	y	splicing	CYB5A(NM_001190807:exon4:c.259-1G>C;NM_001914:exon6:c.313-1G>C;NM_148923:exon5:c.289-1G>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.289-1G>C;ENST00000299438:exon5:c.67-1G>C;ENST00000494131:exon6:c.313-1G>C;ENST00000397914:exon4:c.259-1G>C)	.	.	0.999990361384395	0.936
18	71923011	C	T	18	74255776	y	y	splicing	CYB5A(NM_001190807:exon4:c.259-1G>A;NM_001914:exon6:c.313-1G>A;NM_148923:exon5:c.289-1G>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.289-1G>A;ENST00000299438:exon5:c.67-1G>A;ENST00000494131:exon6:c.313-1G>A;ENST00000397914:exon4:c.259-1G>A)	.	.	0.999990361384395	0.938
18	71923012	T	A	18	74255777	y	y	splicing	CYB5A(NM_001190807:exon4:c.259-2A>T;NM_001914:exon6:c.313-2A>T;NM_148923:exon5:c.289-2A>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.289-2A>T;ENST00000299438:exon5:c.67-2A>T;ENST00000494131:exon6:c.313-2A>T;ENST00000397914:exon4:c.259-2A>T)	.	.	0.999988247793601	0.93
18	71923012	T	C	18	74255777	y	y	splicing	CYB5A(NM_001190807:exon4:c.259-2A>G;NM_001914:exon6:c.313-2A>G;NM_148923:exon5:c.289-2A>G)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.289-2A>G;ENST00000299438:exon5:c.67-2A>G;ENST00000494131:exon6:c.313-2A>G;ENST00000397914:exon4:c.259-2A>G)	.	.	0.999988247793601	0.928
18	71923012	T	G	18	74255777	y	y	splicing	CYB5A(NM_001190807:exon4:c.259-2A>C;NM_001914:exon6:c.313-2A>C;NM_148923:exon5:c.289-2A>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon5:c.289-2A>C;ENST00000299438:exon5:c.67-2A>C;ENST00000494131:exon6:c.313-2A>C;ENST00000397914:exon4:c.259-2A>C)	.	.	0.999988247793601	0.928
18	71923013	G	A	18	74255778	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.328441714688182	0.206
18	71923013	G	C	18	74255778	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.998632876733897	0.958
18	71923013	G	T	18	74255778	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.971499378751172	0.758
18	71923014	A	C	18	74255779	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	9.52517328441123E-5	0.006
18	71923014	A	G	18	74255779	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.33395925340573E-5	0.002
18	71923014	A	T	18	74255779	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.20483783901568E-4	0.006
18	71923015	A	C	18	74255780	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.994771728071626	0.924
18	71923015	A	G	18	74255780	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.816738151638512	0.526
18	71923015	A	T	18	74255780	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.997110776137487	0.908
18	71923016	A	C	18	74255781	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.992504960373544	0.878
18	71923016	A	G	18	74255781	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.207715658100309	0.532
18	71923016	A	T	18	74255781	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.995675042257739	0.816
18	71923017	C	A	18	74255782	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.49019991361851E-4	0.012
18	71923017	C	G	18	74255782	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.7224206572752E-4	0.006
18	71923017	C	T	18	74255782	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.21806100833322E-4	0.026
18	71923018	A	C	18	74255783	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0318435920227155	0.266
18	71923018	A	G	18	74255783	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.80760983865298E-4	0.004
18	71923018	A	T	18	74255783	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999749931375154	0.962
18	71923019	C	A	18	74255784	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.16430600028972E-6	0.006
18	71923019	C	G	18	74255784	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.17513323264289E-5	0.01
18	71923019	C	T	18	74255784	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.62268391420967E-5	0.018
18	71923020	G	A	18	74255785	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.91653930422667E-6	0.038
18	71923020	G	C	18	74255785	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.8699377686115E-4	0.066
18	71923020	G	T	18	74255785	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.997894594993724	0.9
18	71923021	A	C	18	74255786	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.910936102367694	0.572
18	71923021	A	G	18	74255786	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00218324435556208	0.148
18	71923021	A	T	18	74255786	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.966129617010624	0.674
18	71923022	G	A	18	74255787	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.11925183174564E-4	0.104
18	71923022	G	C	18	74255787	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.09657364494397E-5	0.028
18	71923022	G	T	18	74255787	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.41807308844079E-5	0.038
18	71924057	C	A	18	74256822	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.35433880088737E-4	0.0
18	71924057	C	G	18	74256822	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.96832152072846E-4	0.0
18	71924057	C	T	18	74256822	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.35433880088737E-4	0.0
18	71924058	C	A	18	74256823	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00829322666034312	0.102
18	71924058	C	G	18	74256823	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00445273769687348	0.094
18	71924058	C	T	18	74256823	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0224085503700386	0.154
18	71924059	A	C	18	74256824	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.247557781323333	0.538
18	71924059	A	G	18	74256824	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.247557781323333	0.536
18	71924059	A	T	18	74256824	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.430275035116703	0.644
18	71924060	C	A	18	74256825	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.850322085406827	0.704
18	71924060	C	G	18	74256825	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.754854074308594	0.566
18	71924060	C	T	18	74256825	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.906682760875244	0.66
18	71924061	C	A	18	74256826	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0162811297729071	0.138
18	71924061	C	G	18	74256826	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00445273769687348	0.1
18	71924061	C	T	18	74256826	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0224085503700386	0.164
18	71924062	A	C	18	74256827	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.247557781323333	0.536
18	71924062	A	G	18	74256827	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.247557781323333	0.534
18	71924062	A	T	18	74256827	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.430275035116703	0.64
18	71924063	A	C	18	74256828	y	y	splicing	CYB5A(NM_001914:exon5:c.312+2T>G)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.312+2T>G)	.	.	0.828045442883565	0.75
18	71924063	A	G	18	74256828	y	y	splicing	CYB5A(NM_001914:exon5:c.312+2T>C)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.312+2T>C)	.	.	0.828045442883565	0.748
18	71924063	A	T	18	74256828	y	y	splicing	CYB5A(NM_001914:exon5:c.312+2T>A)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.312+2T>A)	.	.	0.827619941387628	0.746
18	71924064	C	A	18	74256829	y	y	splicing	CYB5A(NM_001914:exon5:c.312+1G>T)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.312+1G>T)	.	.	0.992210540431992	0.852
18	71924064	C	G	18	74256829	y	y	splicing	CYB5A(NM_001914:exon5:c.312+1G>C)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.312+1G>C)	.	.	0.992210540431992	0.856
18	71924064	C	T	18	74256829	y	y	splicing	CYB5A(NM_001914:exon5:c.312+1G>A)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.312+1G>A)	.	.	0.99157712679808	0.852
18	71924065	C	A	18	74256830	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	0.906682760875244	0.664
18	71924065	C	G	18	74256830	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	0.754854074308594	0.678
18	71924065	C	T	18	74256830	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	0.906682760875244	0.67
18	71924066	T	A	18	74256831	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	0.247557781323333	0.498
18	71924066	T	C	18	74256831	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	0.0944221853156123	0.484
18	71924066	T	G	18	74256831	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	0.0944221853156123	0.51
18	71924067	T	A	18	74256832	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	1.91285012458584E-4	0.078
18	71924067	T	C	18	74256832	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	1.91285012458584E-4	0.008
18	71924067	T	G	18	74256832	y	y	UTR3	CYB5A	.	.	UTR3	ENSG00000166347	.	.	1.91285012458584E-4	0.008
18	71924087	T	A	18	74256852	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon4:c.A290T:p.E97V;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000494131:exon4:c.A290T:p.E97V;	0.828045442883565	0.772
18	71924087	T	C	18	74256852	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon4:c.A290G:p.E97G;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000494131:exon4:c.A290G:p.E97G;	0.247557781323333	0.494
18	71924087	T	G	18	74256852	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon4:c.A290C:p.E97A;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000494131:exon4:c.A290C:p.E97A;	0.0166553619860984	0.084
18	71924088	C	A	18	74256853	y	y	exonic	CYB5A	stopgain SNV	CYB5A:NM_001914:exon4:c.G289T:p.E97X;	exonic	ENSG00000166347	stopgain SNV	ENSG00000166347:ENST00000494131:exon4:c.G289T:p.E97X;	0.452573906408016	0.57
18	71924088	C	G	18	74256853	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon4:c.G289C:p.E97Q;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000494131:exon4:c.G289C:p.E97Q;	0.00159610464863394	0.026
18	71924088	C	T	18	74256853	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon4:c.G289A:p.E97K;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000494131:exon4:c.G289A:p.E97K;	0.00445273769687348	0.086
18	71924089	C	A	18	74256854	y	y	splicing	CYB5A(NM_001914:exon5:c.289-1G>T)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.289-1G>T)	.	.	0.992210540431992	0.874
18	71924089	C	G	18	74256854	y	y	splicing	CYB5A(NM_001914:exon5:c.289-1G>C)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.289-1G>C)	.	.	0.992210540431992	0.872
18	71924089	C	T	18	74256854	y	y	splicing	CYB5A(NM_001914:exon5:c.289-1G>A)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.289-1G>A)	.	.	0.992210540431992	0.874
18	71924090	T	A	18	74256855	y	y	splicing	CYB5A(NM_001914:exon5:c.289-2A>T)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.289-2A>T)	.	.	0.828045442883565	0.772
18	71924090	T	C	18	74256855	y	y	splicing	CYB5A(NM_001914:exon5:c.289-2A>G)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.289-2A>G)	.	.	0.828045442883565	0.758
18	71924090	T	G	18	74256855	y	y	splicing	CYB5A(NM_001914:exon5:c.289-2A>C)	.	.	splicing	ENSG00000166347(ENST00000494131:exon5:c.289-2A>C)	.	.	0.828045442883565	0.758
18	71924091	G	A	18	74256856	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00352144084188001	0.042
18	71924091	G	C	18	74256856	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00261102217652179	0.08
18	71924091	G	T	18	74256856	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00406579574933411	0.046
18	71924092	A	C	18	74256857	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0166553619860984	0.038
18	71924092	A	G	18	74256857	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0122880875428738	0.038
18	71924092	A	T	18	74256857	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0166553619860984	0.096
18	71924093	C	A	18	74256858	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.99904535276046E-4	0.008
18	71924093	C	G	18	74256858	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.03056377962419E-4	0.022
18	71924093	C	T	18	74256858	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.35341279017553E-4	0.008
18	71924094	A	C	18	74256859	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00726657051909387	0.024
18	71924094	A	G	18	74256859	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0042401975290627	0.024
18	71924094	A	T	18	74256859	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00629638455133952	0.026
18	71924095	C	A	18	74256860	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.24453633365032E-5	0.0
18	71924095	C	G	18	74256860	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.24453633365032E-5	0.0
18	71924095	C	T	18	74256860	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.24453633365032E-5	0.0
18	71924096	A	C	18	74256861	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.83797748812033E-5	0.0
18	71924096	A	G	18	74256861	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.83797748812033E-5	0.0
18	71924096	A	T	18	74256861	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.82035599739421E-5	0.0
18	71924097	G	A	18	74256862	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.906682760875244	0.664
18	71924097	G	C	18	74256862	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.754854074308594	0.564
18	71924097	G	T	18	74256862	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.754854074308594	0.678
18	71924098	T	A	18	74256863	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	9.0488118260647E-5	0.008
18	71924098	T	C	18	74256863	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.58623548102354E-5	0.008
18	71924098	T	G	18	74256863	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.58623548102354E-5	0.008
18	71924099	A	C	18	74256864	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.40940918270023E-4	0.0
18	71924099	A	G	18	74256864	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.40940918270023E-4	0.0
18	71924099	A	T	18	74256864	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.40940918270023E-4	0.0
18	71924100	G	A	18	74256865	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.74371319567002E-4	0.002
18	71924100	G	C	18	74256865	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.25659817580048E-4	0.0
18	71924100	G	T	18	74256865	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.27018162912834E-4	0.002
18	71928142	A	C	18	74260907	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.32132555130511E-4	0.012
18	71928142	A	G	18	74260907	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.04180666832345E-4	0.028
18	71928142	A	T	18	74260907	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.32132555130511E-4	0.018
18	71928143	C	A	18	74260908	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	5.79545962655506E-5	0.002
18	71928143	C	G	18	74260908	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	5.79545962655506E-5	0.0
18	71928143	C	T	18	74260908	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	5.79545962655506E-5	0.002
18	71928144	A	C	18	74260909	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0238360057850766	0.278
18	71928144	A	G	18	74260909	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.323294806904112	0.454
18	71928144	A	T	18	74260909	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.142805246260252	0.35
18	71928145	C	A	18	74260910	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999879958510723	0.916
18	71928145	C	G	18	74260910	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999675059880251	0.892
18	71928145	C	T	18	74260910	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.998052576099425	0.9
18	71928146	T	A	18	74260911	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.221987243383019	0.334
18	71928146	T	C	18	74260911	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.1977185486081	0.36
18	71928146	T	G	18	74260911	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0353823941555656	0.252
18	71928147	T	A	18	74260912	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.107916755040483	0.27
18	71928147	T	C	18	74260912	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.73481048336746E-4	0.014
18	71928147	T	G	18	74260912	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.283068395504748	0.298
18	71928148	A	C	18	74260913	y	y	splicing	CYB5A(NM_001914:exon4:c.288+2T>G;NM_148923:exon4:c.288+2T>G)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.288+2T>G;ENST00000299438:exon4:c.66+2T>G;ENST00000494131:exon4:c.288+2T>G)	.	.	0.999871793741964	0.846
18	71928148	A	G	18	74260913	y	y	splicing	CYB5A(NM_001914:exon4:c.288+2T>C;NM_148923:exon4:c.288+2T>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.288+2T>C;ENST00000299438:exon4:c.66+2T>C;ENST00000494131:exon4:c.288+2T>C)	.	.	0.909353195160147	0.544
18	71928148	A	T	18	74260913	y	y	splicing	CYB5A(NM_001914:exon4:c.288+2T>A;NM_148923:exon4:c.288+2T>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.288+2T>A;ENST00000299438:exon4:c.66+2T>A;ENST00000494131:exon4:c.288+2T>A)	.	.	0.999893588078984	0.852
18	71928149	C	A	18	74260914	y	y	splicing	CYB5A(NM_001914:exon4:c.288+1G>T;NM_148923:exon4:c.288+1G>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.288+1G>T;ENST00000299438:exon4:c.66+1G>T;ENST00000494131:exon4:c.288+1G>T)	.	.	0.999976475802857	0.906
18	71928149	C	G	18	74260914	y	y	splicing	CYB5A(NM_001914:exon4:c.288+1G>C;NM_148923:exon4:c.288+1G>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.288+1G>C;ENST00000299438:exon4:c.66+1G>C;ENST00000494131:exon4:c.288+1G>C)	.	.	0.999976475802857	0.908
18	71928149	C	T	18	74260914	y	y	splicing	CYB5A(NM_001914:exon4:c.288+1G>A;NM_148923:exon4:c.288+1G>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.288+1G>A;ENST00000299438:exon4:c.66+1G>A;ENST00000494131:exon4:c.288+1G>A)	.	.	0.999970205305079	0.918
18	71928150	C	A	18	74260915	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_001914:exon3:c.G288T:p.P96P;CYB5A:NM_148923:exon3:c.G288T:p.P96P;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.G288T:p.P96P;ENSG00000166347:ENST00000299438:exon3:c.G66T:p.P22P;ENSG00000166347:ENST00000494131:exon3:c.G288T:p.P96P;	0.95013693305988	0.778
18	71928150	C	G	18	74260915	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_001914:exon3:c.G288C:p.P96P;CYB5A:NM_148923:exon3:c.G288C:p.P96P;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.G288C:p.P96P;ENSG00000166347:ENST00000299438:exon3:c.G66C:p.P22P;ENSG00000166347:ENST00000494131:exon3:c.G288C:p.P96P;	0.923038901533847	0.682
18	71928150	C	T	18	74260915	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_001914:exon3:c.G288A:p.P96P;CYB5A:NM_148923:exon3:c.G288A:p.P96P;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.G288A:p.P96P;ENSG00000166347:ENST00000299438:exon3:c.G66A:p.P22P;ENSG00000166347:ENST00000494131:exon3:c.G288A:p.P96P;	0.258403657157108	0.486
18	71928151	G	A	18	74260916	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.C287T:p.P96L;CYB5A:NM_148923:exon3:c.C287T:p.P96L;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.C287T:p.P96L;ENSG00000166347:ENST00000299438:exon3:c.C65T:p.P22L;ENSG00000166347:ENST00000494131:exon3:c.C287T:p.P96L;	4.09535732740302E-4	0.01
18	71928151	G	C	18	74260916	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.C287G:p.P96R;CYB5A:NM_148923:exon3:c.C287G:p.P96R;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.C287G:p.P96R;ENSG00000166347:ENST00000299438:exon3:c.C65G:p.P22R;ENSG00000166347:ENST00000494131:exon3:c.C287G:p.P96R;	2.4021206367272E-4	0.072
18	71928151	G	T	18	74260916	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.C287A:p.P96Q;CYB5A:NM_148923:exon3:c.C287A:p.P96Q;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.C287A:p.P96Q;ENSG00000166347:ENST00000299438:exon3:c.C65A:p.P22Q;ENSG00000166347:ENST00000494131:exon3:c.C287A:p.P96Q;	1.61563091359611E-4	0.124
18	71928152	G	A	18	74260917	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.C286T:p.P96S;CYB5A:NM_148923:exon3:c.C286T:p.P96S;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.C286T:p.P96S;ENSG00000166347:ENST00000299438:exon3:c.C64T:p.P22S;ENSG00000166347:ENST00000494131:exon3:c.C286T:p.P96S;	1.0154684439522E-4	0.02
18	71928152	G	C	18	74260917	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.C286G:p.P96A;CYB5A:NM_148923:exon3:c.C286G:p.P96A;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.C286G:p.P96A;ENSG00000166347:ENST00000299438:exon3:c.C64G:p.P22A;ENSG00000166347:ENST00000494131:exon3:c.C286G:p.P96A;	2.80774809374254E-5	0.004
18	71928152	G	T	18	74260917	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.C286A:p.P96T;CYB5A:NM_148923:exon3:c.C286A:p.P96T;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.C286A:p.P96T;ENSG00000166347:ENST00000299438:exon3:c.C64A:p.P22T;ENSG00000166347:ENST00000494131:exon3:c.C286A:p.P96T;	4.54173572513744E-5	0.014
18	71928178	T	A	18	74260943	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.A260T:p.D87V;CYB5A:NM_148923:exon3:c.A260T:p.D87V;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.A260T:p.D87V;ENSG00000166347:ENST00000299438:exon3:c.A38T:p.D13V;ENSG00000166347:ENST00000494131:exon3:c.A260T:p.D87V;	9.75970596458718E-5	0.006
18	71928178	T	C	18	74260943	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.A260G:p.D87G;CYB5A:NM_148923:exon3:c.A260G:p.D87G;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.A260G:p.D87G;ENSG00000166347:ENST00000299438:exon3:c.A38G:p.D13G;ENSG00000166347:ENST00000494131:exon3:c.A260G:p.D87G;	1.92218207068001E-4	0.034
18	71928178	T	G	18	74260943	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.A260C:p.D87A;CYB5A:NM_148923:exon3:c.A260C:p.D87A;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.A260C:p.D87A;ENSG00000166347:ENST00000299438:exon3:c.A38C:p.D13A;ENSG00000166347:ENST00000494131:exon3:c.A260C:p.D87A;	2.98140048987804E-4	0.02
18	71928179	C	A	18	74260944	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.G259T:p.D87Y;CYB5A:NM_148923:exon3:c.G259T:p.D87Y;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.G259T:p.D87Y;ENSG00000166347:ENST00000299438:exon3:c.G37T:p.D13Y;ENSG00000166347:ENST00000494131:exon3:c.G259T:p.D87Y;	0.989861782260747	0.928
18	71928179	C	G	18	74260944	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.G259C:p.D87H;CYB5A:NM_148923:exon3:c.G259C:p.D87H;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.G259C:p.D87H;ENSG00000166347:ENST00000299438:exon3:c.G37C:p.D13H;ENSG00000166347:ENST00000494131:exon3:c.G259C:p.D87H;	0.662878105052668	0.576
18	71928179	C	T	18	74260944	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon3:c.G259A:p.D87N;CYB5A:NM_148923:exon3:c.G259A:p.D87N;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon3:c.G259A:p.D87N;ENSG00000166347:ENST00000299438:exon3:c.G37A:p.D13N;ENSG00000166347:ENST00000494131:exon3:c.G259A:p.D87N;	0.0630363048674316	0.288
18	71928180	C	A	18	74260945	y	y	splicing	CYB5A(NM_001914:exon4:c.259-1G>T;NM_148923:exon4:c.259-1G>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.259-1G>T;ENST00000299438:exon4:c.37-1G>T;ENST00000494131:exon4:c.259-1G>T)	.	.	0.999979679580461	0.94
18	71928180	C	G	18	74260945	y	y	splicing	CYB5A(NM_001914:exon4:c.259-1G>C;NM_148923:exon4:c.259-1G>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.259-1G>C;ENST00000299438:exon4:c.37-1G>C;ENST00000494131:exon4:c.259-1G>C)	.	.	0.999961309694426	0.896
18	71928180	C	T	18	74260945	y	y	splicing	CYB5A(NM_001914:exon4:c.259-1G>A;NM_148923:exon4:c.259-1G>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.259-1G>A;ENST00000299438:exon4:c.37-1G>A;ENST00000494131:exon4:c.259-1G>A)	.	.	0.999979679580461	0.94
18	71928181	T	A	18	74260946	y	y	splicing	CYB5A(NM_001914:exon4:c.259-2A>T;NM_148923:exon4:c.259-2A>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.259-2A>T;ENST00000299438:exon4:c.37-2A>T;ENST00000494131:exon4:c.259-2A>T)	.	.	0.999943756768875	0.914
18	71928181	T	C	18	74260946	y	y	splicing	CYB5A(NM_001914:exon4:c.259-2A>G;NM_148923:exon4:c.259-2A>G)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.259-2A>G;ENST00000299438:exon4:c.37-2A>G;ENST00000494131:exon4:c.259-2A>G)	.	.	0.999938221968836	0.898
18	71928181	T	G	18	74260946	y	y	splicing	CYB5A(NM_001914:exon4:c.259-2A>C;NM_148923:exon4:c.259-2A>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon4:c.259-2A>C;ENST00000299438:exon4:c.37-2A>C;ENST00000494131:exon4:c.259-2A>C)	.	.	0.999938221968836	0.898
18	71928182	G	A	18	74260947	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.108158564685144	0.142
18	71928182	G	C	18	74260947	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.998133543391086	0.862
18	71928182	G	T	18	74260947	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.977004484592758	0.718
18	71928183	C	A	18	74260948	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.07942637465614E-5	0.0
18	71928183	C	G	18	74260948	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.43736939727509E-5	0.002
18	71928183	C	T	18	74260948	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.45724985229711E-5	0.008
18	71928184	A	C	18	74260949	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0139946246596138	0.224
18	71928184	A	G	18	74260949	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.0961159069855E-4	0.018
18	71928184	A	T	18	74260949	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.998316771812243	0.832
18	71928185	A	C	18	74260950	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999176508405263	0.976
18	71928185	A	G	18	74260950	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	8.31811372144765E-5	0.0
18	71928185	A	T	18	74260950	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00424968917806101	0.07
18	71928186	T	A	18	74260951	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.53288172011172E-5	0.0
18	71928186	T	C	18	74260951	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.54968908019066E-5	0.0
18	71928186	T	G	18	74260951	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.13106523844686E-6	0.0
18	71928187	G	A	18	74260952	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.77536844425458E-5	0.004
18	71928187	G	C	18	74260952	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.66851697583973E-4	0.064
18	71928187	G	T	18	74260952	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.47626076389088E-4	0.016
18	71928188	A	C	18	74260953	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	9.05551113891105E-4	0.108
18	71928188	A	G	18	74260953	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.86069758734116E-5	0.006
18	71928188	A	T	18	74260953	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00196838501428746	0.106
18	71928189	A	C	18	74260954	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0138887843688231	0.17
18	71928189	A	G	18	74260954	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.86304437976042E-4	0.008
18	71928189	A	T	18	74260954	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0173577089081523	0.178
18	71928190	A	C	18	74260955	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00223563488166045	0.182
18	71928190	A	G	18	74260955	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.14849877562582E-4	0.05
18	71928190	A	T	18	74260955	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0046297351069306	0.162
18	71928191	A	C	18	74260956	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0359409243357643	0.172
18	71928191	A	G	18	74260956	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	5.62666259377904E-4	0.032
18	71928191	A	T	18	74260956	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0111374652058677	0.252
18	71930576	G	A	18	74263341	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.24453633365032E-5	0.0
18	71930576	G	C	18	74263341	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.00504297320579E-4	0.0
18	71930576	G	T	18	74263341	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.00504297320579E-4	0.0
18	71930577	T	A	18	74263342	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.4691922971916E-4	0.0
18	71930577	T	C	18	74263342	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	9.14056011222508E-5	0.0
18	71930577	T	G	18	74263342	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.06358195301676E-4	0.002
18	71930578	A	C	18	74263343	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.286067167115587	0.426
18	71930578	A	G	18	74263343	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.436983552674601	0.494
18	71930578	A	T	18	74263343	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.226104237520436	0.356
18	71930579	C	A	18	74263344	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.99996634017867	0.974
18	71930579	C	G	18	74263344	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999986555777255	0.982
18	71930579	C	T	18	74263344	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.99993214914856	0.956
18	71930580	T	A	18	74263345	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.855803184669841	0.548
18	71930580	T	C	18	74263345	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.967543766813424	0.606
18	71930580	T	G	18	74263345	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.174086160380003	0.452
18	71930581	T	A	18	74263346	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.992784663542876	0.732
18	71930581	T	C	18	74263346	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.00408265477741E-4	0.02
18	71930581	T	G	18	74263346	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.997936731569097	0.778
18	71930582	A	C	18	74263347	y	y	splicing	CYB5A(NM_001190807:exon3:c.258+2T>G;NM_001914:exon3:c.258+2T>G;NM_148923:exon3:c.258+2T>G)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.258+2T>G;ENST00000299438:exon3:c.36+2T>G;ENST00000494131:exon3:c.258+2T>G;ENST00000397914:exon3:c.258+2T>G)	.	.	0.999966514958823	0.944
18	71930582	A	G	18	74263347	y	y	splicing	CYB5A(NM_001190807:exon3:c.258+2T>C;NM_001914:exon3:c.258+2T>C;NM_148923:exon3:c.258+2T>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.258+2T>C;ENST00000299438:exon3:c.36+2T>C;ENST00000494131:exon3:c.258+2T>C;ENST00000397914:exon3:c.258+2T>C)	.	.	0.977619849305878	0.616
18	71930582	A	T	18	74263347	y	y	splicing	CYB5A(NM_001190807:exon3:c.258+2T>A;NM_001914:exon3:c.258+2T>A;NM_148923:exon3:c.258+2T>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.258+2T>A;ENST00000299438:exon3:c.36+2T>A;ENST00000494131:exon3:c.258+2T>A;ENST00000397914:exon3:c.258+2T>A)	.	.	0.999966514958823	0.946
18	71930583	C	A	18	74263348	y	y	splicing	CYB5A(NM_001190807:exon3:c.258+1G>T;NM_001914:exon3:c.258+1G>T;NM_148923:exon3:c.258+1G>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.258+1G>T;ENST00000299438:exon3:c.36+1G>T;ENST00000494131:exon3:c.258+1G>T;ENST00000397914:exon3:c.258+1G>T)	.	.	0.999976137096505	0.934
18	71930583	C	G	18	74263348	y	y	splicing	CYB5A(NM_001190807:exon3:c.258+1G>C;NM_001914:exon3:c.258+1G>C;NM_148923:exon3:c.258+1G>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.258+1G>C;ENST00000299438:exon3:c.36+1G>C;ENST00000494131:exon3:c.258+1G>C;ENST00000397914:exon3:c.258+1G>C)	.	.	0.999976137096505	0.932
18	71930583	C	T	18	74263348	y	y	splicing	CYB5A(NM_001190807:exon3:c.258+1G>A;NM_001914:exon3:c.258+1G>A;NM_148923:exon3:c.258+1G>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.258+1G>A;ENST00000299438:exon3:c.36+1G>A;ENST00000494131:exon3:c.258+1G>A;ENST00000397914:exon3:c.258+1G>A)	.	.	0.999986675681007	0.932
18	71930584	T	A	18	74263349	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_001914:exon2:c.A258T:p.P86P;CYB5A:NM_148923:exon2:c.A258T:p.P86P;CYB5A:NM_001190807:exon2:c.A258T:p.P86P;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.A258T:p.P86P;ENSG00000166347:ENST00000299438:exon2:c.A36T:p.P12P;ENSG00000166347:ENST00000397914:exon2:c.A258T:p.P86P;ENSG00000166347:ENST00000494131:exon2:c.A258T:p.P86P;	1.95949381348343E-4	0.22
18	71930584	T	C	18	74263349	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_001914:exon2:c.A258G:p.P86P;CYB5A:NM_148923:exon2:c.A258G:p.P86P;CYB5A:NM_001190807:exon2:c.A258G:p.P86P;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.A258G:p.P86P;ENSG00000166347:ENST00000299438:exon2:c.A36G:p.P12P;ENSG00000166347:ENST00000397914:exon2:c.A258G:p.P86P;ENSG00000166347:ENST00000494131:exon2:c.A258G:p.P86P;	5.25990291163196E-5	0.04
18	71930584	T	G	18	74263349	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_001914:exon2:c.A258C:p.P86P;CYB5A:NM_148923:exon2:c.A258C:p.P86P;CYB5A:NM_001190807:exon2:c.A258C:p.P86P;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.A258C:p.P86P;ENSG00000166347:ENST00000299438:exon2:c.A36C:p.P12P;ENSG00000166347:ENST00000397914:exon2:c.A258C:p.P86P;ENSG00000166347:ENST00000494131:exon2:c.A258C:p.P86P;	4.38624644696912E-5	0.0
18	71930585	G	A	18	74263350	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C257T:p.P86L;CYB5A:NM_148923:exon2:c.C257T:p.P86L;CYB5A:NM_001190807:exon2:c.C257T:p.P86L;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C257T:p.P86L;ENSG00000166347:ENST00000299438:exon2:c.C35T:p.P12L;ENSG00000166347:ENST00000397914:exon2:c.C257T:p.P86L;ENSG00000166347:ENST00000494131:exon2:c.C257T:p.P86L;	0.897520785190121	0.65
18	71930585	G	C	18	74263350	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C257G:p.P86R;CYB5A:NM_148923:exon2:c.C257G:p.P86R;CYB5A:NM_001190807:exon2:c.C257G:p.P86R;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C257G:p.P86R;ENSG00000166347:ENST00000299438:exon2:c.C35G:p.P12R;ENSG00000166347:ENST00000397914:exon2:c.C257G:p.P86R;ENSG00000166347:ENST00000494131:exon2:c.C257G:p.P86R;	0.982172467986983	0.826
18	71930585	G	T	18	74263350	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C257A:p.P86Q;CYB5A:NM_148923:exon2:c.C257A:p.P86Q;CYB5A:NM_001190807:exon2:c.C257A:p.P86Q;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C257A:p.P86Q;ENSG00000166347:ENST00000299438:exon2:c.C35A:p.P12Q;ENSG00000166347:ENST00000397914:exon2:c.C257A:p.P86Q;ENSG00000166347:ENST00000494131:exon2:c.C257A:p.P86Q;	0.944746595421941	0.65
18	71930586	G	A	18	74263351	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C256T:p.P86S;CYB5A:NM_148923:exon2:c.C256T:p.P86S;CYB5A:NM_001190807:exon2:c.C256T:p.P86S;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C256T:p.P86S;ENSG00000166347:ENST00000299438:exon2:c.C34T:p.P12S;ENSG00000166347:ENST00000397914:exon2:c.C256T:p.P86S;ENSG00000166347:ENST00000494131:exon2:c.C256T:p.P86S;	0.998078348300056	0.684
18	71930586	G	C	18	74263351	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C256G:p.P86A;CYB5A:NM_148923:exon2:c.C256G:p.P86A;CYB5A:NM_001190807:exon2:c.C256G:p.P86A;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C256G:p.P86A;ENSG00000166347:ENST00000299438:exon2:c.C34G:p.P12A;ENSG00000166347:ENST00000397914:exon2:c.C256G:p.P86A;ENSG00000166347:ENST00000494131:exon2:c.C256G:p.P86A;	0.00910957146068007	0.122
18	71930586	G	T	18	74263351	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C256A:p.P86T;CYB5A:NM_148923:exon2:c.C256A:p.P86T;CYB5A:NM_001190807:exon2:c.C256A:p.P86T;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C256A:p.P86T;ENSG00000166347:ENST00000299438:exon2:c.C34A:p.P12T;ENSG00000166347:ENST00000397914:exon2:c.C256A:p.P86T;ENSG00000166347:ENST00000494131:exon2:c.C256A:p.P86T;	0.914760910662649	0.688
18	71930711	T	A	18	74263476	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.A131T:p.H44L;CYB5A:NM_148923:exon2:c.A131T:p.H44L;CYB5A:NM_001190807:exon2:c.A131T:p.H44L;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.A131T:p.H44L;ENSG00000166347:ENST00000397914:exon2:c.A131T:p.H44L;ENSG00000166347:ENST00000494131:exon2:c.A131T:p.H44L;	0.811998519031444	0.766
18	71930711	T	C	18	74263476	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.A131G:p.H44R;CYB5A:NM_148923:exon2:c.A131G:p.H44R;CYB5A:NM_001190807:exon2:c.A131G:p.H44R;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.A131G:p.H44R;ENSG00000166347:ENST00000397914:exon2:c.A131G:p.H44R;ENSG00000166347:ENST00000494131:exon2:c.A131G:p.H44R;	0.871155575777992	0.802
18	71930711	T	G	18	74263476	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.A131C:p.H44P;CYB5A:NM_148923:exon2:c.A131C:p.H44P;CYB5A:NM_001190807:exon2:c.A131C:p.H44P;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.A131C:p.H44P;ENSG00000166347:ENST00000397914:exon2:c.A131C:p.H44P;ENSG00000166347:ENST00000494131:exon2:c.A131C:p.H44P;	0.87827268859221	0.89
18	71930712	G	A	18	74263477	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C130T:p.H44Y;CYB5A:NM_148923:exon2:c.C130T:p.H44Y;CYB5A:NM_001190807:exon2:c.C130T:p.H44Y;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C130T:p.H44Y;ENSG00000166347:ENST00000397914:exon2:c.C130T:p.H44Y;ENSG00000166347:ENST00000494131:exon2:c.C130T:p.H44Y;	0.994506541122037	0.874
18	71930712	G	C	18	74263477	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C130G:p.H44D;CYB5A:NM_148923:exon2:c.C130G:p.H44D;CYB5A:NM_001190807:exon2:c.C130G:p.H44D;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C130G:p.H44D;ENSG00000166347:ENST00000397914:exon2:c.C130G:p.H44D;ENSG00000166347:ENST00000494131:exon2:c.C130G:p.H44D;	0.962083431209401	0.732
18	71930712	G	T	18	74263477	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon2:c.C130A:p.H44N;CYB5A:NM_148923:exon2:c.C130A:p.H44N;CYB5A:NM_001190807:exon2:c.C130A:p.H44N;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon2:c.C130A:p.H44N;ENSG00000166347:ENST00000397914:exon2:c.C130A:p.H44N;ENSG00000166347:ENST00000494131:exon2:c.C130A:p.H44N;	0.959965635481026	0.798
18	71930713	C	A	18	74263478	y	y	splicing	CYB5A(NM_001190807:exon3:c.130-1G>T;NM_001914:exon3:c.130-1G>T;NM_148923:exon3:c.130-1G>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.130-1G>T;ENST00000494131:exon3:c.130-1G>T;ENST00000397914:exon3:c.130-1G>T)	.	.	0.999989125585301	0.944
18	71930713	C	G	18	74263478	y	y	splicing	CYB5A(NM_001190807:exon3:c.130-1G>C;NM_001914:exon3:c.130-1G>C;NM_148923:exon3:c.130-1G>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.130-1G>C;ENST00000494131:exon3:c.130-1G>C;ENST00000397914:exon3:c.130-1G>C)	.	.	0.999989125585301	0.944
18	71930713	C	T	18	74263478	y	y	splicing	CYB5A(NM_001190807:exon3:c.130-1G>A;NM_001914:exon3:c.130-1G>A;NM_148923:exon3:c.130-1G>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.130-1G>A;ENST00000494131:exon3:c.130-1G>A;ENST00000397914:exon3:c.130-1G>A)	.	.	0.999989125585301	0.944
18	71930714	T	A	18	74263479	y	y	splicing	CYB5A(NM_001190807:exon3:c.130-2A>T;NM_001914:exon3:c.130-2A>T;NM_148923:exon3:c.130-2A>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.130-2A>T;ENST00000494131:exon3:c.130-2A>T;ENST00000397914:exon3:c.130-2A>T)	.	.	0.999986741007567	0.946
18	71930714	T	C	18	74263479	y	y	splicing	CYB5A(NM_001190807:exon3:c.130-2A>G;NM_001914:exon3:c.130-2A>G;NM_148923:exon3:c.130-2A>G)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.130-2A>G;ENST00000494131:exon3:c.130-2A>G;ENST00000397914:exon3:c.130-2A>G)	.	.	0.999986741007567	0.946
18	71930714	T	G	18	74263479	y	y	splicing	CYB5A(NM_001190807:exon3:c.130-2A>C;NM_001914:exon3:c.130-2A>C;NM_148923:exon3:c.130-2A>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon3:c.130-2A>C;ENST00000494131:exon3:c.130-2A>C;ENST00000397914:exon3:c.130-2A>C)	.	.	0.999986741007567	0.946
18	71930715	G	A	18	74263480	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00680838618878006	0.16
18	71930715	G	C	18	74263480	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999877020685742	0.792
18	71930715	G	T	18	74263480	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.958521382009986	0.772
18	71930716	T	A	18	74263481	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	5.6348180918012E-4	0.016
18	71930716	T	C	18	74263481	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.950887160135711	0.71
18	71930716	T	G	18	74263481	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.94465049457351E-4	0.058
18	71930717	T	A	18	74263482	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.84240862445721E-4	0.03
18	71930717	T	C	18	74263482	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00140061898195302	0.048
18	71930717	T	G	18	74263482	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.17926662691149E-4	0.036
18	71930718	C	A	18	74263483	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.72327422658891E-5	0.052
18	71930718	C	G	18	74263483	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.38874287992368E-5	0.048
18	71930718	C	T	18	74263483	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	1.99505794795459E-4	0.016
18	71930719	A	C	18	74263484	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0104242376762298	0.324
18	71930719	A	G	18	74263484	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.61792302692674E-4	0.088
18	71930719	A	T	18	74263484	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999947624893875	0.96
18	71930720	A	C	18	74263485	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00452632641660205	0.248
18	71930720	A	G	18	74263485	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.8567255833342E-4	0.05
18	71930720	A	T	18	74263485	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0302354753997085	0.26
18	71930721	A	C	18	74263486	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.338289233232825	0.706
18	71930721	A	G	18	74263486	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.95813278787803E-4	0.05
18	71930721	A	T	18	74263486	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.135218539072036	0.702
18	71930722	G	A	18	74263487	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.3910858111697E-5	0.0
18	71930722	G	C	18	74263487	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.96664642379145E-4	0.018
18	71930722	G	T	18	74263487	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	5.55669002216208E-4	0.046
18	71930723	G	A	18	74263488	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.35082844333272E-5	0.0
18	71930723	G	C	18	74263488	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.95167954806698E-4	0.024
18	71930723	G	T	18	74263488	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00233717495450083	0.048
18	71930724	A	C	18	74263489	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0268383384567949	0.358
18	71930724	A	G	18	74263489	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00161292798141468	0.076
18	71930724	A	T	18	74263489	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.431965064901528	0.496
18	71958115	T	A	18	74290880	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.39529611572298E-5	0.002
18	71958115	T	C	18	74290880	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.44782069694124E-5	0.002
18	71958115	T	G	18	74290880	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.44782069694124E-5	0.002
18	71958116	A	C	18	74290881	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.3994564522384E-5	0.014
18	71958116	A	G	18	74290881	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	2.3994564522384E-5	0.014
18	71958116	A	T	18	74290881	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.45170072801036E-5	0.014
18	71958117	T	A	18	74290882	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.91564032431422E-5	0.0
18	71958117	T	C	18	74290882	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.67535614375061E-5	0.0
18	71958117	T	G	18	74290882	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.67535614375061E-5	0.0
18	71958118	T	A	18	74290883	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.39529611572298E-5	0.004
18	71958118	T	C	18	74290883	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.39529611572298E-5	0.004
18	71958118	T	G	18	74290883	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.39529611572298E-5	0.004
18	71958119	A	C	18	74290884	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.39529611572298E-5	0.004
18	71958119	A	G	18	74290884	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.39529611572298E-5	0.004
18	71958119	A	T	18	74290884	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	3.39529611572298E-5	0.004
18	71958120	C	A	18	74290885	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.59435642788644E-4	0.014
18	71958120	C	G	18	74290885	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	4.09469023002838E-4	0.014
18	71958120	C	T	18	74290885	n	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	7.59435642788644E-4	0.014
18	71958121	A	C	18	74290886	n	y	intronic	CYB5A	.	.	splicing	ENSG00000166347	.	.	8.81984393052081E-4	0.02
18	71958121	A	G	18	74290886	n	y	intronic	CYB5A	.	.	splicing	ENSG00000166347	.	.	8.81984393052081E-4	0.02
18	71958121	A	T	18	74290886	n	y	intronic	CYB5A	.	.	splicing	ENSG00000166347	.	.	0.00131227968434435	0.02
18	71958122	C	A	18	74290887	n	y	intronic	CYB5A	.	.	splicing	ENSG00000166347	.	.	3.24923113285181E-5	0.0
18	71958122	C	G	18	74290887	n	y	intronic	CYB5A	.	.	splicing	ENSG00000166347	.	.	3.01127499129458E-5	0.0
18	71958122	C	T	18	74290887	n	y	intronic	CYB5A	.	.	splicing	ENSG00000166347	.	.	3.24923113285181E-5	0.002
18	71958123	C	A	18	74290888	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	3.57076726553018E-5	0.0
18	71958123	C	G	18	74290888	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	3.57076726553018E-5	0.0
18	71958123	C	T	18	74290888	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	3.57076726553018E-5	0.0
18	71958124	T	A	18	74290889	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	3.15267776820636E-5	0.0
18	71958124	T	C	18	74290889	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	6.91564032431422E-5	0.002
18	71958124	T	G	18	74290889	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	6.91564032431422E-5	0.004
18	71958125	T	A	18	74290890	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	8.50861351865397E-5	0.0
18	71958125	T	C	18	74290890	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	4.68140984436469E-5	0.0
18	71958125	T	G	18	74290890	n	y	intronic	CYB5A	.	.	UTR5	ENSG00000166347	.	.	4.68140984436469E-5	0.0
18	71958974	C	A	18	74291739	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00238959477844965	0.004
18	71958974	C	G	18	74291739	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00263444413060726	0.0
18	71958974	C	T	18	74291739	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.00211240838695719	0.008
18	71958975	A	C	18	74291740	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.73026686462995E-5	0.048
18	71958975	A	G	18	74291740	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	6.73026686462995E-5	0.058
18	71958975	A	T	18	74291740	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	9.82136148210141E-5	0.09
18	71958976	A	C	18	74291741	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0163389734352005	0.248
18	71958976	A	G	18	74291741	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0216620916844432	0.218
18	71958976	A	T	18	74291741	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.0458786662080841	0.32
18	71958977	C	A	18	74291742	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.998766919143662	0.902
18	71958977	C	G	18	74291742	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999241957935905	0.924
18	71958977	C	T	18	74291742	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.999185765025572	0.952
18	71958978	T	A	18	74291743	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.959426972679003	0.642
18	71958978	T	C	18	74291743	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.974822797919931	0.704
18	71958978	T	G	18	74291743	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.870649912681313	0.402
18	71958979	C	A	18	74291744	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.564292299200897	0.686
18	71958979	C	G	18	74291744	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	0.848167536564381	0.756
18	71958979	C	T	18	74291744	y	y	intronic	CYB5A	.	.	intronic	ENSG00000166347	.	.	5.57317264614802E-4	0.07
18	71958980	A	C	18	74291745	y	y	splicing	CYB5A(NM_001190807:exon2:c.129+2T>G;NM_001914:exon2:c.129+2T>G;NM_148923:exon2:c.129+2T>G)	.	.	splicing	ENSG00000166347(ENST00000340533:exon2:c.129+2T>G;ENST00000494131:exon2:c.129+2T>G;ENST00000397914:exon2:c.129+2T>G)	.	.	0.999992752818502	0.926
18	71958980	A	G	18	74291745	y	y	splicing	CYB5A(NM_001190807:exon2:c.129+2T>C;NM_001914:exon2:c.129+2T>C;NM_148923:exon2:c.129+2T>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon2:c.129+2T>C;ENST00000494131:exon2:c.129+2T>C;ENST00000397914:exon2:c.129+2T>C)	.	.	0.999929375071544	0.85
18	71958980	A	T	18	74291745	y	y	splicing	CYB5A(NM_001190807:exon2:c.129+2T>A;NM_001914:exon2:c.129+2T>A;NM_148923:exon2:c.129+2T>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon2:c.129+2T>A;ENST00000494131:exon2:c.129+2T>A;ENST00000397914:exon2:c.129+2T>A)	.	.	0.999992752818502	0.926
18	71958981	C	A	18	74291746	y	y	splicing	CYB5A(NM_001190807:exon2:c.129+1G>T;NM_001914:exon2:c.129+1G>T;NM_148923:exon2:c.129+1G>T)	.	.	splicing	ENSG00000166347(ENST00000340533:exon2:c.129+1G>T;ENST00000494131:exon2:c.129+1G>T;ENST00000397914:exon2:c.129+1G>T)	.	.	0.999981760802075	0.888
18	71958981	C	G	18	74291746	y	y	splicing	CYB5A(NM_001190807:exon2:c.129+1G>C;NM_001914:exon2:c.129+1G>C;NM_148923:exon2:c.129+1G>C)	.	.	splicing	ENSG00000166347(ENST00000340533:exon2:c.129+1G>C;ENST00000494131:exon2:c.129+1G>C;ENST00000397914:exon2:c.129+1G>C)	.	.	0.999981760802075	0.936
18	71958981	C	T	18	74291746	y	y	splicing	CYB5A(NM_001190807:exon2:c.129+1G>A;NM_001914:exon2:c.129+1G>A;NM_148923:exon2:c.129+1G>A)	.	.	splicing	ENSG00000166347(ENST00000340533:exon2:c.129+1G>A;ENST00000494131:exon2:c.129+1G>A;ENST00000397914:exon2:c.129+1G>A)	.	.	0.999981760802075	0.936
18	71958982	C	A	18	74291747	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon1:c.G129T:p.E43D;CYB5A:NM_148923:exon1:c.G129T:p.E43D;CYB5A:NM_001190807:exon1:c.G129T:p.E43D;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon1:c.G129T:p.E43D;ENSG00000166347:ENST00000397914:exon1:c.G129T:p.E43D;ENSG00000166347:ENST00000494131:exon1:c.G129T:p.E43D;	0.997527282076976	0.954
18	71958982	C	G	18	74291747	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon1:c.G129C:p.E43D;CYB5A:NM_148923:exon1:c.G129C:p.E43D;CYB5A:NM_001190807:exon1:c.G129C:p.E43D;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon1:c.G129C:p.E43D;ENSG00000166347:ENST00000397914:exon1:c.G129C:p.E43D;ENSG00000166347:ENST00000494131:exon1:c.G129C:p.E43D;	0.999371273076768	0.954
18	71958982	C	T	18	74291747	y	y	exonic	CYB5A	synonymous SNV	CYB5A:NM_001914:exon1:c.G129A:p.E43E;CYB5A:NM_148923:exon1:c.G129A:p.E43E;CYB5A:NM_001190807:exon1:c.G129A:p.E43E;	exonic	ENSG00000166347	synonymous SNV	ENSG00000166347:ENST00000340533:exon1:c.G129A:p.E43E;ENSG00000166347:ENST00000397914:exon1:c.G129A:p.E43E;ENSG00000166347:ENST00000494131:exon1:c.G129A:p.E43E;	0.999731607211906	0.974
18	71958983	T	A	18	74291748	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon1:c.A128T:p.E43V;CYB5A:NM_148923:exon1:c.A128T:p.E43V;CYB5A:NM_001190807:exon1:c.A128T:p.E43V;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon1:c.A128T:p.E43V;ENSG00000166347:ENST00000397914:exon1:c.A128T:p.E43V;ENSG00000166347:ENST00000494131:exon1:c.A128T:p.E43V;	0.687862807363441	0.626
18	71958983	T	C	18	74291748	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon1:c.A128G:p.E43G;CYB5A:NM_148923:exon1:c.A128G:p.E43G;CYB5A:NM_001190807:exon1:c.A128G:p.E43G;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon1:c.A128G:p.E43G;ENSG00000166347:ENST00000397914:exon1:c.A128G:p.E43G;ENSG00000166347:ENST00000494131:exon1:c.A128G:p.E43G;	0.960592068665595	0.65
18	71958983	T	G	18	74291748	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon1:c.A128C:p.E43A;CYB5A:NM_148923:exon1:c.A128C:p.E43A;CYB5A:NM_001190807:exon1:c.A128C:p.E43A;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon1:c.A128C:p.E43A;ENSG00000166347:ENST00000397914:exon1:c.A128C:p.E43A;ENSG00000166347:ENST00000494131:exon1:c.A128C:p.E43A;	0.443132185777848	0.606
18	71958984	C	A	18	74291749	y	y	exonic	CYB5A	stopgain SNV	CYB5A:NM_001914:exon1:c.G127T:p.E43X;CYB5A:NM_148923:exon1:c.G127T:p.E43X;CYB5A:NM_001190807:exon1:c.G127T:p.E43X;	exonic	ENSG00000166347	stopgain SNV	ENSG00000166347:ENST00000340533:exon1:c.G127T:p.E43X;ENSG00000166347:ENST00000397914:exon1:c.G127T:p.E43X;ENSG00000166347:ENST00000494131:exon1:c.G127T:p.E43X;	0.988860362048439	0.89
18	71958984	C	G	18	74291749	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon1:c.G127C:p.E43Q;CYB5A:NM_148923:exon1:c.G127C:p.E43Q;CYB5A:NM_001190807:exon1:c.G127C:p.E43Q;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon1:c.G127C:p.E43Q;ENSG00000166347:ENST00000397914:exon1:c.G127C:p.E43Q;ENSG00000166347:ENST00000494131:exon1:c.G127C:p.E43Q;	0.96016315069113	0.78
18	71958984	C	T	18	74291749	y	y	exonic	CYB5A	nonsynonymous SNV	CYB5A:NM_001914:exon1:c.G127A:p.E43K;CYB5A:NM_148923:exon1:c.G127A:p.E43K;CYB5A:NM_001190807:exon1:c.G127A:p.E43K;	exonic	ENSG00000166347	nonsynonymous SNV	ENSG00000166347:ENST00000340533:exon1:c.G127A:p.E43K;ENSG00000166347:ENST00000397914:exon1:c.G127A:p.E43K;ENSG00000166347:ENST00000494131:exon1:c.G127A:p.E43K;	0.957909675724262	0.822
18	71983342	T	A	18	74316107	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	1.6294088569579E-4	0.02
18	71983342	T	C	18	74316107	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	8.96526537946547E-5	0.012
18	71983342	T	G	18	74316107	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	3.45734967399076E-5	0.004
18	71983343	T	A	18	74316108	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	3.32821524734147E-4	0.138
18	71983343	T	C	18	74316108	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	1.37635327001996E-4	0.012
18	71983343	T	G	18	74316108	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	1.05863543083929E-4	0.044
18	71983344	T	A	18	74316109	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	6.40505704813656E-5	0.004
18	71983344	T	C	18	74316109	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	1.96911145645137E-4	0.232
18	71983344	T	G	18	74316109	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	4.83824105736954E-4	0.102
18	71983345	G	A	18	74316110	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999586493254941	0.436
18	71983345	G	C	18	74316110	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999586493254941	0.458
18	71983345	G	T	18	74316110	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999586493254941	0.444
18	71983346	T	A	18	74316111	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999471958183488	0.446
18	71983346	T	C	18	74316111	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.979808025085699	0.438
18	71983346	T	G	18	74316111	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999471958183488	0.408
18	71983347	A	C	18	74316112	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998435420642172	0.836
18	71983347	A	G	18	74316112	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.752940790123857	0.496
18	71983347	A	T	18	74316112	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998435420642172	0.836
18	71983348	A	C	18	74316113	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999776740290889	0.82
18	71983348	A	G	18	74316113	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998899363126591	0.792
18	71983348	A	T	18	74316113	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999621713957279	0.8
18	71983349	G	A	18	74316114	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997665161492089	0.536
18	71983349	G	C	18	74316114	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998921666227905	0.582
18	71983349	G	T	18	74316114	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998921666227905	0.514
18	71983350	A	C	18	74316115	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.1636658935859E-4	0.036
18	71983350	A	G	18	74316115	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.72494103167174E-5	0.006
18	71983350	A	T	18	74316115	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.13037446789279E-4	0.042
18	71983351	C	A	18	74316116	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.0735486450042E-5	0.004
18	71983351	C	G	18	74316116	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.98704844669218E-6	0.024
18	71983351	C	T	18	74316116	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.20072397506913E-5	0.036
18	71983352	C	A	18	74316117	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.10956582934506E-4	0.046
18	71983352	C	G	18	74316117	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.44278106868289E-4	0.07
18	71983352	C	T	18	74316117	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.51693264769649E-4	0.042
18	71985057	T	A	18	74317822	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0294776150329036	0.524
18	71985057	T	C	18	74317822	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.53413175065415E-5	0.042
18	71985057	T	G	18	74317822	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0396134773126331	0.466
18	71985058	T	A	18	74317823	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0896850099877355	0.402
18	71985058	T	C	18	74317823	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.012793344385089	0.196
18	71985058	T	G	18	74317823	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.221185670559442	0.514
18	71985059	A	C	18	74317824	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.10016011080147E-5	0.008
18	71985059	A	G	18	74317824	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.16560330391099E-4	0.014
18	71985059	A	T	18	74317824	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.5496099865743E-5	0.018
18	71985060	T	A	18	74317825	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00484797549722708	0.086
18	71985060	T	C	18	74317825	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.34605821897435E-5	0.062
18	71985060	T	G	18	74317825	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997101174042547	0.914
18	71985061	T	A	18	74317826	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00420247880603528	0.2
18	71985061	T	C	18	74317826	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.91666284712607E-5	0.0
18	71985061	T	G	18	74317826	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.71091255713543E-4	0.18
18	71985062	T	A	18	74317827	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.452948094546316	0.516
18	71985062	T	C	18	74317827	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00528016200999553	0.082
18	71985062	T	G	18	74317827	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.150262990043801	0.468
18	71985063	T	A	18	74317828	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.822448029	0.498
18	71985063	T	C	18	74317828	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00143373192765756	0.096
18	71985063	T	G	18	74317828	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.924024890659712	0.638
18	71985064	T	A	18	74317829	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00626949987488922	0.324
18	71985064	T	C	18	74317829	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00188050542368847	0.05
18	71985064	T	G	18	74317829	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.464166307351898	0.41
18	71985065	A	C	18	74317830	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.71769704867781E-4	0.03
18	71985065	A	G	18	74317830	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.76235008059727E-4	0.126
18	71985065	A	T	18	74317830	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.18906058384825E-5	0.01
18	71985066	A	C	18	74317831	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.30676975656623E-4	0.068
18	71985066	A	G	18	74317831	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.785176805160963	0.552
18	71985066	A	T	18	74317831	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.21567524191721E-4	0.024
18	71985067	A	C	18	74317832	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999946188727699	0.932
18	71985067	A	G	18	74317832	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999946188727699	0.932
18	71985067	A	T	18	74317832	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.99994568797423	0.932
18	71985068	G	A	18	74317833	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999956786857988	0.928
18	71985068	G	C	18	74317833	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999940858364002	0.884
18	71985068	G	T	18	74317833	y	y	splicing	C18orf63	.	.	splicing	ENSG00000206043	.	.	0.999956786857988	0.928
18	71985069	G	A	18	74317834	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	0.744088459114132	0.578
18	71985069	G	C	18	74317834	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	0.57021402076061	0.594
18	71985069	G	T	18	74317834	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	0.929528237143391	0.502
18	71985070	C	A	18	74317835	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	3.44205399887183E-5	0.0
18	71985070	C	G	18	74317835	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	5.5293598673822E-5	0.002
18	71985070	C	T	18	74317835	y	y	UTR5	C18orf63	.	.	UTR5	ENSG00000206043	.	.	9.24872114955664E-5	0.004
18	71985232	C	A	18	74317997	y	y	exonic	C18orf63	stopgain SNV	C18orf63:NM_001174123:exon2:c.C132A:p.C44X;	exonic	ENSG00000206043	stopgain SNV	ENSG00000206043:ENST00000579455:exon2:c.C132A:p.C44X;	0.0446053918514208	0.48
18	71985232	C	G	18	74317997	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon2:c.C132G:p.C44W;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon2:c.C132G:p.C44W;	0.00206239957265137	0.102
18	71985232	C	T	18	74317997	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon2:c.C132T:p.C44C;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon2:c.C132T:p.C44C;	0.97536374096469	0.822
18	71985233	A	C	18	74317998	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon2:c.A133C:p.R45R;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon2:c.A133C:p.R45R;	0.986657607067874	0.806
18	71985233	A	G	18	74317998	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon2:c.A133G:p.R45G;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon2:c.A133G:p.R45G;	0.991233236541968	0.74
18	71985233	A	T	18	74317998	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon2:c.A133T:p.R45W;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon2:c.A133T:p.R45W;	0.994807228420242	0.926
18	71985234	G	A	18	74317999	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon2:c.G134A:p.R45K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon2:c.G134A:p.R45K;	0.999984014637692	1.0
18	71985234	G	C	18	74317999	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon2:c.G134C:p.R45T;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon2:c.G134C:p.R45T;	0.999997244539751	0.994
18	71985234	G	T	18	74317999	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon2:c.G134T:p.R45M;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon2:c.G134T:p.R45M;	0.999985631184005	0.95
18	71985235	G	A	18	74318000	y	y	splicing	C18orf63(NM_001174123:exon2:c.134+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon2:c.134+1G>A)	.	.	0.999984815981472	0.924
18	71985235	G	C	18	74318000	y	y	splicing	C18orf63(NM_001174123:exon2:c.134+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon2:c.134+1G>C)	.	.	0.999980275976526	0.926
18	71985235	G	T	18	74318000	y	y	splicing	C18orf63(NM_001174123:exon2:c.134+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon2:c.134+1G>T)	.	.	0.999984815981472	0.924
18	71985236	T	A	18	74318001	y	y	splicing	C18orf63(NM_001174123:exon2:c.134+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon2:c.134+2T>A)	.	.	0.999981808176352	0.884
18	71985236	T	C	18	74318001	y	y	splicing	C18orf63(NM_001174123:exon2:c.134+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon2:c.134+2T>C)	.	.	0.993631843796328	0.572
18	71985236	T	G	18	74318001	y	y	splicing	C18orf63(NM_001174123:exon2:c.134+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon2:c.134+2T>G)	.	.	0.999981808176352	0.92
18	71985237	A	C	18	74318002	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997779041593252	0.74
18	71985237	A	G	18	74318002	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.745734269836706	0.47
18	71985237	A	T	18	74318002	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997190732410419	0.734
18	71985238	A	C	18	74318003	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.480126749484344	0.358
18	71985238	A	G	18	74318003	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.846577145198951	0.528
18	71985238	A	T	18	74318003	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.794446094231131	0.504
18	71985239	A	C	18	74318004	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.107318680476762	0.272
18	71985239	A	G	18	74318004	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.002031406500417	0.044
18	71985239	A	T	18	74318004	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0480992639673479	0.23
18	71985240	A	C	18	74318005	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0127535152677591	0.04
18	71985240	A	G	18	74318005	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.78858620775018E-4	0.002
18	71985240	A	T	18	74318005	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.97305442281208E-4	0.006
18	71985241	A	C	18	74318006	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.60377858674406E-4	0.002
18	71985241	A	G	18	74318006	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.45138283050024E-4	0.0
18	71985241	A	T	18	74318006	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.15882239753458E-4	0.072
18	71985242	A	C	18	74318007	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.66248126055411E-4	0.02
18	71985242	A	G	18	74318007	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.08658076644086E-4	0.002
18	71985242	A	T	18	74318007	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.60927991965988E-4	0.0
18	71987736	T	A	18	74320501	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.984004562104914	0.658
18	71987736	T	C	18	74320501	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.375214191583961	0.398
18	71987736	T	G	18	74320501	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.986134801615094	0.656
18	71987737	C	A	18	74320502	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00100122135926974	0.128
18	71987737	C	G	18	74320502	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00214980587650762	0.086
18	71987737	C	T	18	74320502	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.36860998758478E-5	0.016
18	71987738	A	C	18	74320503	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.97117293391542E-5	0.004
18	71987738	A	G	18	74320503	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.6971804887463E-5	0.006
18	71987738	A	T	18	74320503	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.60786892125992E-5	0.02
18	71987739	T	A	18	74320504	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.293590887967257	0.352
18	71987739	T	C	18	74320504	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0133335362377643	0.116
18	71987739	T	G	18	74320504	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999970462737131	0.968
18	71987740	C	A	18	74320505	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00336675283140128	0.124
18	71987740	C	G	18	74320505	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00575546722345192	0.098
18	71987740	C	T	18	74320505	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.5646306312102E-4	0.034
18	71987741	T	A	18	74320506	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0749930348381403	0.178
18	71987741	T	C	18	74320506	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.80782929153872E-4	0.004
18	71987741	T	G	18	74320506	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0725520845690382	0.15
18	71987742	C	A	18	74320507	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0119610366148588	0.112
18	71987742	C	G	18	74320507	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00804946640295307	0.156
18	71987742	C	T	18	74320507	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.31448482318259E-5	0.04
18	71987743	C	A	18	74320508	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00561930581508721	0.036
18	71987743	C	G	18	74320508	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0214623957958055	0.11
18	71987743	C	T	18	74320508	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.63976160664682E-4	0.018
18	71987744	A	C	18	74320509	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.58516381810781E-4	0.028
18	71987744	A	G	18	74320509	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.10152144546104E-4	0.014
18	71987744	A	T	18	74320509	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00174053142921448	0.094
18	71987745	C	A	18	74320510	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.813230327894143	0.67
18	71987745	C	G	18	74320510	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999890253058114	0.948
18	71987745	C	T	18	74320510	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00569868296446022	0.044
18	71987746	A	C	18	74320511	y	y	splicing	C18orf63(NM_001174123:exon3:c.135-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.135-2A>C)	.	.	0.999988247793601	0.93
18	71987746	A	G	18	74320511	y	y	splicing	C18orf63(NM_001174123:exon3:c.135-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.135-2A>G)	.	.	0.999988247793601	0.93
18	71987746	A	T	18	74320511	y	y	splicing	C18orf63(NM_001174123:exon3:c.135-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.135-2A>T)	.	.	0.999988247793601	0.932
18	71987747	G	A	18	74320512	y	y	splicing	C18orf63(NM_001174123:exon3:c.135-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.135-1G>A)	.	.	0.999990361384395	0.938
18	71987747	G	C	18	74320512	y	y	splicing	C18orf63(NM_001174123:exon3:c.135-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.135-1G>C)	.	.	0.999990361384395	0.938
18	71987747	G	T	18	74320512	y	y	splicing	C18orf63(NM_001174123:exon3:c.135-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.135-1G>T)	.	.	0.999990361384395	0.938
18	71987748	G	A	18	74320513	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon3:c.G135A:p.R45R;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G135A:p.R45R;	0.750492279112581	0.412
18	71987748	G	C	18	74320513	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.G135C:p.R45S;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G135C:p.R45S;	0.460351741094726	0.752
18	71987748	G	T	18	74320513	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.G135T:p.R45S;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G135T:p.R45S;	0.845709490900691	0.806
18	71987749	C	A	18	74320514	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.C136A:p.Q46K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.C136A:p.Q46K;	0.792215367131502	0.508
18	71987749	C	G	18	74320514	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.C136G:p.Q46E;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.C136G:p.Q46E;	0.0315693721522547	0.186
18	71987749	C	T	18	74320514	y	y	exonic	C18orf63	stopgain SNV	C18orf63:NM_001174123:exon3:c.C136T:p.Q46X;	exonic	ENSG00000206043	stopgain SNV	ENSG00000206043:ENST00000579455:exon3:c.C136T:p.Q46X;	0.986475172586073	0.89
18	71987824	G	A	18	74320589	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.G211A:p.A71T;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G211A:p.A71T;	2.03139011900082E-4	0.016
18	71987824	G	C	18	74320589	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.G211C:p.A71P;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G211C:p.A71P;	9.1824226244657E-5	0.004
18	71987824	G	T	18	74320589	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.G211T:p.A71S;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G211T:p.A71S;	3.29157173277684E-4	0.03
18	71987825	C	A	18	74320590	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.C212A:p.A71E;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.C212A:p.A71E;	0.430202098029007	0.416
18	71987825	C	G	18	74320590	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.C212G:p.A71G;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.C212G:p.A71G;	0.891279723170405	0.644
18	71987825	C	T	18	74320590	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon3:c.C212T:p.A71V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.C212T:p.A71V;	0.982038893334671	0.706
18	71987826	G	A	18	74320591	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon3:c.G213A:p.A71A;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G213A:p.A71A;	0.999990214786694	0.992
18	71987826	G	C	18	74320591	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon3:c.G213C:p.A71A;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G213C:p.A71A;	0.999987501912285	0.988
18	71987826	G	T	18	74320591	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon3:c.G213T:p.A71A;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon3:c.G213T:p.A71A;	0.999970961049249	0.982
18	71987827	G	A	18	74320592	y	y	splicing	C18orf63(NM_001174123:exon3:c.213+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.213+1G>A)	.	.	0.999990361384395	0.938
18	71987827	G	C	18	74320592	y	y	splicing	C18orf63(NM_001174123:exon3:c.213+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.213+1G>C)	.	.	0.999990361384395	0.938
18	71987827	G	T	18	74320592	y	y	splicing	C18orf63(NM_001174123:exon3:c.213+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.213+1G>T)	.	.	0.999990361384395	0.938
18	71987828	T	A	18	74320593	y	y	splicing	C18orf63(NM_001174123:exon3:c.213+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.213+2T>A)	.	.	0.999988247793601	0.932
18	71987828	T	C	18	74320593	y	y	splicing	C18orf63(NM_001174123:exon3:c.213+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.213+2T>C)	.	.	0.99991522016916	0.91
18	71987828	T	G	18	74320593	y	y	splicing	C18orf63(NM_001174123:exon3:c.213+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon3:c.213+2T>G)	.	.	0.999988247793601	0.932
18	71987829	T	A	18	74320594	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.58178266414792E-4	0.07
18	71987829	T	C	18	74320594	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.32038431528702E-5	0.036
18	71987829	T	G	18	74320594	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.66009270885843E-4	0.09
18	71987830	A	C	18	74320595	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998174482293104	0.916
18	71987830	A	G	18	74320595	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998543903423144	0.926
18	71987830	A	T	18	74320595	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997724630759044	0.92
18	71987831	G	A	18	74320596	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999930460458742	0.998
18	71987831	G	C	18	74320596	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999930460458742	0.976
18	71987831	G	T	18	74320596	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999972800830724	0.972
18	71987832	T	A	18	74320597	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998814170983905	0.842
18	71987832	T	C	18	74320597	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999273414725723	0.962
18	71987832	T	G	18	74320597	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998773321660025	0.94
18	71987833	A	C	18	74320598	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.52910137101209E-4	0.018
18	71987833	A	G	18	74320598	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.68508757001814E-4	0.03
18	71987833	A	T	18	74320598	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.92125407520721E-4	0.05
18	71987834	T	A	18	74320599	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00713401059174665	0.04
18	71987834	T	C	18	74320599	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00663605292352502	0.034
18	71987834	T	G	18	74320599	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00663605292352502	0.038
18	71989921	T	A	18	74322686	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.82305665502191	0.646
18	71989921	T	C	18	74322686	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0043806327467723	0.022
18	71989921	T	G	18	74322686	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.99986185140108	0.934
18	71989922	T	A	18	74322687	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999119855707497	0.942
18	71989922	T	C	18	74322687	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.797299898326477	0.41
18	71989922	T	G	18	74322687	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998219195005425	0.89
18	71989923	T	A	18	74322688	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999360423354995	0.898
18	71989923	T	C	18	74322688	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.817177949911949	0.5
18	71989923	T	G	18	74322688	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999317261545858	0.92
18	71989924	T	A	18	74322689	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.800330023138269	0.462
18	71989924	T	C	18	74322689	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.80996260480289E-5	0.04
18	71989924	T	G	18	74322689	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.70425178616578	0.448
18	71989925	T	A	18	74322690	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999892786645317	0.976
18	71989925	T	C	18	74322690	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0218875096819403	0.274
18	71989925	T	G	18	74322690	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.986401805107014	0.868
18	71989926	G	A	18	74322691	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.44462869614056E-4	0.036
18	71989926	G	C	18	74322691	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.42374129747224E-4	0.004
18	71989926	G	T	18	74322691	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.33050785222048E-4	0.006
18	71989927	T	A	18	74322692	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.996046059474831	0.906
18	71989927	T	C	18	74322692	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.227916123102732	0.362
18	71989927	T	G	18	74322692	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.996811464314274	0.908
18	71989928	T	A	18	74322693	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.555931715701399	0.678
18	71989928	T	C	18	74322693	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0128952807237915	0.068
18	71989928	T	G	18	74322693	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.385672494659302	0.662
18	71989929	A	C	18	74322694	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.37413117944493E-4	0.0
18	71989929	A	G	18	74322694	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.66902473754228E-4	0.036
18	71989929	A	T	18	74322694	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.35383934732607E-4	0.014
18	71989930	C	A	18	74322695	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.722195086196541	0.358
18	71989930	C	G	18	74322695	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997247932516858	0.83
18	71989930	C	T	18	74322695	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.27061021030571E-4	0.042
18	71989931	A	C	18	74322696	y	y	splicing	C18orf63(NM_001174123:exon4:c.214-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.214-2A>C)	.	.	0.999988247793601	0.928
18	71989931	A	G	18	74322696	y	y	splicing	C18orf63(NM_001174123:exon4:c.214-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.214-2A>G)	.	.	0.999988247793601	0.928
18	71989931	A	T	18	74322696	y	y	splicing	C18orf63(NM_001174123:exon4:c.214-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.214-2A>T)	.	.	0.999988247793601	0.928
18	71989932	G	A	18	74322697	y	y	splicing	C18orf63(NM_001174123:exon4:c.214-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.214-1G>A)	.	.	0.999990361384395	0.936
18	71989932	G	C	18	74322697	y	y	splicing	C18orf63(NM_001174123:exon4:c.214-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.214-1G>C)	.	.	0.999990361384395	0.936
18	71989932	G	T	18	74322697	y	y	splicing	C18orf63(NM_001174123:exon4:c.214-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.214-1G>T)	.	.	0.999990361384395	0.936
18	71989933	A	C	18	74322698	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.A214C:p.I72L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.A214C:p.I72L;	0.783947825263155	0.424
18	71989933	A	G	18	74322698	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.A214G:p.I72V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.A214G:p.I72V;	0.00115973518783866	0.018
18	71989933	A	T	18	74322698	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.A214T:p.I72L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.A214T:p.I72L;	0.604419526287582	0.528
18	71989934	T	A	18	74322699	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.T215A:p.I72K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.T215A:p.I72K;	0.04486919808994	0.248
18	71989934	T	C	18	74322699	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.T215C:p.I72T;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.T215C:p.I72T;	0.0298870533136942	0.268
18	71989934	T	G	18	74322699	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.T215G:p.I72R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.T215G:p.I72R;	0.0834337745030931	0.252
18	71989987	A	C	18	74322752	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.A268C:p.K90Q;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.A268C:p.K90Q;	0.0021367566626122	0.014
18	71989987	A	G	18	74322752	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.A268G:p.K90E;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.A268G:p.K90E;	0.00423453275969893	0.05
18	71989987	A	T	18	74322752	y	y	exonic	C18orf63	stopgain SNV	C18orf63:NM_001174123:exon4:c.A268T:p.K90X;	exonic	ENSG00000206043	stopgain SNV	ENSG00000206043:ENST00000579455:exon4:c.A268T:p.K90X;	0.963056842744267	0.642
18	71989988	A	C	18	74322753	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.A269C:p.K90T;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.A269C:p.K90T;	0.126089353536235	0.418
18	71989988	A	G	18	74322753	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.A269G:p.K90R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.A269G:p.K90R;	0.199166151665353	0.312
18	71989988	A	T	18	74322753	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.A269T:p.K90M;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.A269T:p.K90M;	0.102633591320155	0.38
18	71989989	G	A	18	74322754	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon4:c.G270A:p.K90K;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.G270A:p.K90K;	0.335634821887197	0.328
18	71989989	G	C	18	74322754	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.G270C:p.K90N;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.G270C:p.K90N;	0.569315932960412	0.474
18	71989989	G	T	18	74322754	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon4:c.G270T:p.K90N;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon4:c.G270T:p.K90N;	0.659692339713056	0.492
18	71989990	G	A	18	74322755	y	y	splicing	C18orf63(NM_001174123:exon4:c.270+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.270+1G>A)	.	.	0.99995545544995	0.948
18	71989990	G	C	18	74322755	y	y	splicing	C18orf63(NM_001174123:exon4:c.270+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.270+1G>C)	.	.	0.99995586615188	0.948
18	71989990	G	T	18	74322755	y	y	splicing	C18orf63(NM_001174123:exon4:c.270+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.270+1G>T)	.	.	0.99995586615188	0.948
18	71989991	T	A	18	74322756	y	y	splicing	C18orf63(NM_001174123:exon4:c.270+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.270+2T>A)	.	.	0.999778082668778	0.85
18	71989991	T	C	18	74322756	y	y	splicing	C18orf63(NM_001174123:exon4:c.270+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.270+2T>C)	.	.	0.823694935068781	0.562
18	71989991	T	G	18	74322756	y	y	splicing	C18orf63(NM_001174123:exon4:c.270+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon4:c.270+2T>G)	.	.	0.999700492436753	0.838
18	71989992	A	C	18	74322757	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.30954996284705	0.548
18	71989992	A	G	18	74322757	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.32135547996658E-4	0.004
18	71989992	A	T	18	74322757	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.117831792748593	0.488
18	71989993	A	C	18	74322758	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0181627223705611	0.258
18	71989993	A	G	18	74322758	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0254368749002048	0.35
18	71989993	A	T	18	74322758	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0280764635767402	0.254
18	71989994	G	A	18	74322759	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.227908034967391	0.54
18	71989994	G	C	18	74322759	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.18242999155692	0.514
18	71989994	G	T	18	74322759	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.35129200496966	0.578
18	71989995	T	A	18	74322760	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0498660441821615	0.37
18	71989995	T	C	18	74322760	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.163402403066001	0.372
18	71989995	T	G	18	74322760	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0164556789711302	0.276
18	71989996	G	A	18	74322761	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.3004317960578E-5	0.0
18	71989996	G	C	18	74322761	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.48929332251792E-5	0.0
18	71989996	G	T	18	74322761	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.48929332251792E-5	0.0
18	71989997	T	A	18	74322762	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.77978745885032E-4	0.002
18	71989997	T	C	18	74322762	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.74359842730815E-4	0.002
18	71989997	T	G	18	74322762	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.74359842730815E-4	0.002
18	71995170	T	A	18	74327935	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.13953196916364	0.496
18	71995170	T	C	18	74327935	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.14828744100368E-5	0.006
18	71995170	T	G	18	74327935	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0061583748355326	0.23
18	71995171	A	C	18	74327936	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.50255234772729E-5	0.01
18	71995171	A	G	18	74327936	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.83226128217098E-5	0.0
18	71995171	A	T	18	74327936	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.85418599898305E-4	0.096
18	71995172	A	C	18	74327937	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00106463397426037	0.012
18	71995172	A	G	18	74327937	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999157092535171	0.912
18	71995172	A	T	18	74327937	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.84004353377477E-4	0.046
18	71995173	T	A	18	74327938	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.653289989770163	0.69
18	71995173	T	C	18	74327938	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0109204461873751	0.102
18	71995173	T	G	18	74327938	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999964606872087	0.98
18	71995174	A	C	18	74327939	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.67826141294583E-5	0.016
18	71995174	A	G	18	74327939	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.03692619611451E-5	0.0
18	71995174	A	T	18	74327939	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.51983032046199E-5	0.002
18	71995175	T	A	18	74327940	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0661338740649998	0.302
18	71995175	T	C	18	74327940	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.23260183966368E-4	0.036
18	71995175	T	G	18	74327940	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999970825156658	0.988
18	71995176	T	A	18	74327941	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00268295670538884	0.104
18	71995176	T	C	18	74327941	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.16697785731902E-5	0.008
18	71995176	T	G	18	74327941	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0107513169319195	0.132
18	71995177	T	A	18	74327942	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.992379096798436	0.672
18	71995177	T	C	18	74327942	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0212754980212553	0.172
18	71995177	T	G	18	74327942	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.991495832622519	0.676
18	71995178	T	A	18	74327943	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00423677549211406	0.1
18	71995178	T	C	18	74327943	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.85664535498799E-4	0.022
18	71995178	T	G	18	74327943	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00708800710237233	0.06
18	71995179	T	A	18	74327944	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0129446240831179	0.364
18	71995179	T	C	18	74327944	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.71009072361772E-5	0.022
18	71995179	T	G	18	74327944	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998517283416073	0.724
18	71995180	A	C	18	74327945	y	y	splicing	C18orf63(NM_001174123:exon5:c.271-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.271-2A>C)	.	.	0.999975930788337	0.936
18	71995180	A	G	18	74327945	y	y	splicing	C18orf63(NM_001174123:exon5:c.271-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.271-2A>G)	.	.	0.999975930788337	0.936
18	71995180	A	T	18	74327945	y	y	splicing	C18orf63(NM_001174123:exon5:c.271-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.271-2A>T)	.	.	0.999975930788337	0.942
18	71995181	G	A	18	74327946	y	y	splicing	C18orf63(NM_001174123:exon5:c.271-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.271-1G>A)	.	.	0.999916487880886	0.952
18	71995181	G	C	18	74327946	y	y	splicing	C18orf63(NM_001174123:exon5:c.271-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.271-1G>C)	.	.	0.999916487880886	0.946
18	71995181	G	T	18	74327946	y	y	splicing	C18orf63(NM_001174123:exon5:c.271-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.271-1G>T)	.	.	0.999916487880886	0.924
18	71995182	A	C	18	74327947	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.A271C:p.M91L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A271C:p.M91L;	0.0011507051061191	0.1
18	71995182	A	G	18	74327947	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.A271G:p.M91V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A271G:p.M91V;	7.36214937138556E-5	0.0
18	71995182	A	T	18	74327947	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.A271T:p.M91L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A271T:p.M91L;	0.00337614438636131	0.14
18	71995183	T	A	18	74327948	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.T272A:p.M91K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.T272A:p.M91K;	0.00256413710681094	0.102
18	71995183	T	C	18	74327948	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.T272C:p.M91T;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.T272C:p.M91T;	0.00506100176455914	0.098
18	71995183	T	G	18	74327948	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.T272G:p.M91R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.T272G:p.M91R;	0.00477657567889888	0.1
18	71995291	A	C	18	74328056	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.A380C:p.Q127P;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A380C:p.Q127P;	0.00193711341660824	0.032
18	71995291	A	G	18	74328056	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.A380G:p.Q127R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A380G:p.Q127R;	0.00158533837917216	0.064
18	71995291	A	T	18	74328056	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.A380T:p.Q127L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A380T:p.Q127L;	0.740801344078466	0.466
18	71995292	A	C	18	74328057	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.A381C:p.Q127H;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A381C:p.Q127H;	0.868298806480955	0.706
18	71995292	A	G	18	74328057	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon5:c.A381G:p.Q127Q;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A381G:p.Q127Q;	0.996950926080166	0.94
18	71995292	A	T	18	74328057	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.A381T:p.Q127H;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.A381T:p.Q127H;	0.986242083011918	0.82
18	71995293	G	A	18	74328058	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.G382A:p.G128R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.G382A:p.G128R;	0.999151550423797	0.956
18	71995293	G	C	18	74328058	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon5:c.G382C:p.G128R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon5:c.G382C:p.G128R;	0.996519240419756	0.804
18	71995293	G	T	18	74328058	y	y	exonic	C18orf63	stopgain SNV	C18orf63:NM_001174123:exon5:c.G382T:p.G128X;	exonic	ENSG00000206043	stopgain SNV	ENSG00000206043:ENST00000579455:exon5:c.G382T:p.G128X;	0.999862177850292	0.952
18	71995294	G	A	18	74328059	y	y	splicing	C18orf63(NM_001174123:exon5:c.382+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.382+1G>A)	.	.	0.999981760802075	0.936
18	71995294	G	C	18	74328059	y	y	splicing	C18orf63(NM_001174123:exon5:c.382+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.382+1G>C)	.	.	0.999981760802075	0.936
18	71995294	G	T	18	74328059	y	y	splicing	C18orf63(NM_001174123:exon5:c.382+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.382+1G>T)	.	.	0.999981760802075	0.936
18	71995295	T	A	18	74328060	y	y	splicing	C18orf63(NM_001174123:exon5:c.382+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.382+2T>A)	.	.	0.999992752818502	0.926
18	71995295	T	C	18	74328060	y	y	splicing	C18orf63(NM_001174123:exon5:c.382+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.382+2T>C)	.	.	0.985690088091059	0.612
18	71995295	T	G	18	74328060	y	y	splicing	C18orf63(NM_001174123:exon5:c.382+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon5:c.382+2T>G)	.	.	0.999992752818502	0.926
18	71995296	A	C	18	74328061	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.981924493092182	0.75
18	71995296	A	G	18	74328061	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0366558488076378	0.504
18	71995296	A	T	18	74328061	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998535680498506	0.796
18	71995297	A	C	18	74328062	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.475562874246225	0.384
18	71995297	A	G	18	74328062	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.580309934390162	0.518
18	71995297	A	T	18	74328062	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.294373470787149	0.412
18	71995298	C	A	18	74328063	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00231433777280107	0.076
18	71995298	C	G	18	74328063	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.60238791852102E-4	0.05
18	71995298	C	T	18	74328063	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00186343393167242	0.04
18	71995299	T	A	18	74328064	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00478817916845681	0.164
18	71995299	T	C	18	74328064	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00250977456353054	0.214
18	71995299	T	G	18	74328064	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.84296598811487E-4	0.168
18	71995300	T	A	18	74328065	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00534546826762661	0.018
18	71995300	T	C	18	74328065	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00543296053774612	0.014
18	71995300	T	G	18	74328065	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00387257489931565	0.016
18	71995301	T	A	18	74328066	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.05425346636526E-4	0.002
18	71995301	T	C	18	74328066	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.43949593129782E-5	0.0
18	71995301	T	G	18	74328066	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.00039005654946E-4	0.0
18	71996218	G	A	18	74328983	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.59905947900728E-5	0.014
18	71996218	G	C	18	74328983	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.96290206236693E-5	0.0
18	71996218	G	T	18	74328983	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.26394791658306E-5	0.002
18	71996219	A	C	18	74328984	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.65193024696223E-5	0.004
18	71996219	A	G	18	74328984	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.52371737513039E-5	0.006
18	71996219	A	T	18	74328984	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.99207632517805E-4	0.122
18	71996220	A	C	18	74328985	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.32415791378828E-4	0.012
18	71996220	A	G	18	74328985	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999167453152757	0.946
18	71996220	A	T	18	74328985	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.19018138630046E-4	0.042
18	71996221	T	A	18	74328986	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.422511974936518	0.66
18	71996221	T	C	18	74328986	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00889003478619541	0.056
18	71996221	T	G	18	74328986	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999890686899753	0.952
18	71996222	T	A	18	74328987	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.965254552822026	0.8
18	71996222	T	C	18	74328987	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00726486630856141	0.176
18	71996222	T	G	18	74328987	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.726436380060791	0.682
18	71996223	T	A	18	74328988	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.986222911388346	0.762
18	71996223	T	C	18	74328988	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.134383467528237	0.454
18	71996223	T	G	18	74328988	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.985508497735252	0.774
18	71996224	T	A	18	74328989	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.978952638866507	0.84
18	71996224	T	C	18	74328989	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.105563337993898	0.484
18	71996224	T	G	18	74328989	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.987272732367658	0.874
18	71996225	T	A	18	74328990	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.995633755851457	0.918
18	71996225	T	C	18	74328990	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.610824178488845	0.632
18	71996225	T	G	18	74328990	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.99951519917672	0.95
18	71996226	T	A	18	74328991	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0027400679123131	0.128
18	71996226	T	C	18	74328991	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.56103330180617E-4	0.06
18	71996226	T	G	18	74328991	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00912958431189206	0.136
18	71996227	A	C	18	74328992	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00210332998848068	0.114
18	71996227	A	G	18	74328992	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.671652048198661	0.502
18	71996227	A	T	18	74328992	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00939023926311306	0.188
18	71996228	A	C	18	74328993	y	y	splicing	C18orf63(NM_001174123:exon6:c.383-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.383-2A>C)	.	.	0.999968104623211	0.886
18	71996228	A	G	18	74328993	y	y	splicing	C18orf63(NM_001174123:exon6:c.383-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.383-2A>G)	.	.	0.999968104623211	0.886
18	71996228	A	T	18	74328993	y	y	splicing	C18orf63(NM_001174123:exon6:c.383-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.383-2A>T)	.	.	0.999968104623211	0.888
18	71996229	G	A	18	74328994	y	y	splicing	C18orf63(NM_001174123:exon6:c.383-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.383-1G>A)	.	.	0.999980303772886	0.904
18	71996229	G	C	18	74328994	y	y	splicing	C18orf63(NM_001174123:exon6:c.383-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.383-1G>C)	.	.	0.999980303772886	0.904
18	71996229	G	T	18	74328994	y	y	splicing	C18orf63(NM_001174123:exon6:c.383-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.383-1G>T)	.	.	0.999980303772886	0.904
18	71996230	G	A	18	74328995	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.G383A:p.G128E;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.G383A:p.G128E;	0.999323896633675	0.852
18	71996230	G	C	18	74328995	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.G383C:p.G128A;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.G383C:p.G128A;	0.999432775456913	0.892
18	71996230	G	T	18	74328995	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.G383T:p.G128V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.G383T:p.G128V;	0.999545191179296	0.944
18	71996231	A	C	18	74328996	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon6:c.A384C:p.G128G;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.A384C:p.G128G;	0.0160893347280884	0.2
18	71996231	A	G	18	74328996	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon6:c.A384G:p.G128G;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.A384G:p.G128G;	0.0026452521037166	0.2
18	71996231	A	T	18	74328996	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon6:c.A384T:p.G128G;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.A384T:p.G128G;	0.0027540396503777	0.156
18	71996269	T	A	18	74329034	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.T422A:p.V141D;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.T422A:p.V141D;	0.00112347293686259	0.014
18	71996269	T	C	18	74329034	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.T422C:p.V141A;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.T422C:p.V141A;	0.00174185187842092	0.018
18	71996269	T	G	18	74329034	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.T422G:p.V141G;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.T422G:p.V141G;	0.00825451920819605	0.032
18	71996270	T	A	18	74329035	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon6:c.T423A:p.V141V;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.T423A:p.V141V;	1.19874705131069E-4	0.09
18	71996270	T	C	18	74329035	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon6:c.T423C:p.V141V;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.T423C:p.V141V;	6.1065014881798E-5	0.098
18	71996270	T	G	18	74329035	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon6:c.T423G:p.V141V;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.T423G:p.V141V;	1.64176828623783E-4	0.116
18	71996271	G	A	18	74329036	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.G424A:p.V142I;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.G424A:p.V142I;	0.999456058760776	0.896
18	71996271	G	C	18	74329036	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.G424C:p.V142L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.G424C:p.V142L;	0.999686246989427	0.866
18	71996271	G	T	18	74329036	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon6:c.G424T:p.V142L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon6:c.G424T:p.V142L;	0.99953832793126	0.862
18	71996272	G	A	18	74329037	y	y	splicing	C18orf63(NM_001174123:exon6:c.424+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.424+1G>A)	.	.	0.999949496871441	0.932
18	71996272	G	C	18	74329037	y	y	splicing	C18orf63(NM_001174123:exon6:c.424+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.424+1G>C)	.	.	0.999949496871441	0.938
18	71996272	G	T	18	74329037	y	y	splicing	C18orf63(NM_001174123:exon6:c.424+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.424+1G>T)	.	.	0.999949496871441	0.932
18	71996273	T	A	18	74329038	y	y	splicing	C18orf63(NM_001174123:exon6:c.424+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.424+2T>A)	.	.	0.999939020951004	0.922
18	71996273	T	C	18	74329038	y	y	splicing	C18orf63(NM_001174123:exon6:c.424+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.424+2T>C)	.	.	0.939796453199135	0.616
18	71996273	T	G	18	74329038	y	y	splicing	C18orf63(NM_001174123:exon6:c.424+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon6:c.424+2T>G)	.	.	0.999939020951004	0.932
18	71996274	A	C	18	74329039	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.961403735636891	0.708
18	71996274	A	G	18	74329039	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00583093774659056	0.116
18	71996274	A	T	18	74329039	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.933786298517586	0.638
18	71996275	A	C	18	74329040	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.913557043166439	0.562
18	71996275	A	G	18	74329040	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.939316529609419	0.7
18	71996275	A	T	18	74329040	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.95043510378182	0.662
18	71996276	G	A	18	74329041	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999397426890129	0.924
18	71996276	G	C	18	74329041	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999167713211711	0.842
18	71996276	G	T	18	74329041	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999882169320224	0.882
18	71996277	T	A	18	74329042	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.631097110694646	0.532
18	71996277	T	C	18	74329042	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.716036866887453	0.452
18	71996277	T	G	18	74329042	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.176559584066408	0.43
18	71996278	A	C	18	74329043	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.39036558682923E-4	0.036
18	71996278	A	G	18	74329043	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.21887122461587E-4	0.034
18	71996278	A	T	18	74329043	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.81534318865373E-4	0.028
18	71996279	A	C	18	74329044	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.51290618449768E-5	0.0
18	71996279	A	G	18	74329044	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.76887829887856E-5	0.0
18	71996279	A	T	18	74329044	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.64839492542337E-5	0.0
18	71998089	T	A	18	74330854	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.643543755464295	0.708
18	71998089	T	C	18	74330854	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0266587520787647	0.186
18	71998089	T	G	18	74330854	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999925734616241	0.98
18	71998090	T	A	18	74330855	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998864314541254	0.894
18	71998090	T	C	18	74330855	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.567065610740544	0.272
18	71998090	T	G	18	74330855	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.995138732012598	0.826
18	71998091	T	A	18	74330856	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.974098617252598	0.696
18	71998091	T	C	18	74330856	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.76047265266286E-4	0.092
18	71998091	T	G	18	74330856	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.871229751953249	0.63
18	71998092	T	A	18	74330857	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.967061044667539	0.634
18	71998092	T	C	18	74330857	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0340513880216192	0.168
18	71998092	T	G	18	74330857	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.937533180971995	0.76
18	71998093	A	C	18	74330858	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.22412037950224E-4	0.096
18	71998093	A	G	18	74330858	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.14512992566116E-4	0.028
18	71998093	A	T	18	74330858	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.02866898793732E-4	0.052
18	71998094	T	A	18	74330859	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.61703451122245	0.628
18	71998094	T	C	18	74330859	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.70594346956E-4	0.07
18	71998094	T	G	18	74330859	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999900378080805	0.958
18	71998095	T	A	18	74330860	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.994089448178585	0.886
18	71998095	T	C	18	74330860	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00916724444245074	0.238
18	71998095	T	G	18	74330860	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.990735724727316	0.932
18	71998096	T	A	18	74330861	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997583896363332	0.898
18	71998096	T	C	18	74330861	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.663680909650947	0.466
18	71998096	T	G	18	74330861	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997377340225798	0.902
18	71998097	T	A	18	74330862	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00368150281555985	0.042
18	71998097	T	C	18	74330862	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.06835155369508E-4	0.048
18	71998097	T	G	18	74330862	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00202761607987962	0.044
18	71998098	C	A	18	74330863	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.941939150106076	0.68
18	71998098	C	G	18	74330863	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999841705128477	0.9
18	71998098	C	T	18	74330863	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00622468929078527	0.16
18	71998099	A	C	18	74330864	y	y	splicing	C18orf63(NM_001174123:exon7:c.425-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.425-2A>C)	.	.	0.999986741007567	0.934
18	71998099	A	G	18	74330864	y	y	splicing	C18orf63(NM_001174123:exon7:c.425-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.425-2A>G)	.	.	0.999986741007567	0.934
18	71998099	A	T	18	74330864	y	y	splicing	C18orf63(NM_001174123:exon7:c.425-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.425-2A>T)	.	.	0.999986741007567	0.934
18	71998100	G	A	18	74330865	y	y	splicing	C18orf63(NM_001174123:exon7:c.425-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.425-1G>A)	.	.	0.999984967332678	0.938
18	71998100	G	C	18	74330865	y	y	splicing	C18orf63(NM_001174123:exon7:c.425-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.425-1G>C)	.	.	0.999984967332678	0.938
18	71998100	G	T	18	74330865	y	y	splicing	C18orf63(NM_001174123:exon7:c.425-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.425-1G>T)	.	.	0.999984967332678	0.938
18	71998101	T	A	18	74330866	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.T425A:p.V142E;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.T425A:p.V142E;	7.76523686054959E-5	0.008
18	71998101	T	C	18	74330866	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.T425C:p.V142A;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.T425C:p.V142A;	2.7092022400114E-4	0.308
18	71998101	T	G	18	74330866	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.T425G:p.V142G;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.T425G:p.V142G;	2.58146689109454E-4	0.128
18	71998102	A	C	18	74330867	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon7:c.A426C:p.V142V;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.A426C:p.V142V;	0.00106627924267166	0.064
18	71998102	A	G	18	74330867	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon7:c.A426G:p.V142V;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.A426G:p.V142V;	2.21385424142803E-4	0.122
18	71998102	A	T	18	74330867	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon7:c.A426T:p.V142V;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.A426T:p.V142V;	9.74021585047869E-5	0.104
18	71998175	G	A	18	74330940	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.G499A:p.E167K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.G499A:p.E167K;	6.85807897878431E-5	0.016
18	71998175	G	C	18	74330940	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.G499C:p.E167Q;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.G499C:p.E167Q;	1.28953615667576E-4	0.006
18	71998175	G	T	18	74330940	y	y	exonic	C18orf63	stopgain SNV	C18orf63:NM_001174123:exon7:c.G499T:p.E167X;	exonic	ENSG00000206043	stopgain SNV	ENSG00000206043:ENST00000579455:exon7:c.G499T:p.E167X;	0.0236872485316159	0.472
18	71998176	A	C	18	74330941	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.A500C:p.E167A;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.A500C:p.E167A;	0.998315525234251	0.964
18	71998176	A	G	18	74330941	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.A500G:p.E167G;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.A500G:p.E167G;	0.999876440723719	0.992
18	71998176	A	T	18	74330941	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.A500T:p.E167V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.A500T:p.E167V;	0.999823487382374	0.976
18	71998177	G	A	18	74330942	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon7:c.G501A:p.E167E;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.G501A:p.E167E;	0.999991322154908	0.996
18	71998177	G	C	18	74330942	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.G501C:p.E167D;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.G501C:p.E167D;	0.999988925765151	0.996
18	71998177	G	T	18	74330942	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon7:c.G501T:p.E167D;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon7:c.G501T:p.E167D;	0.99998067110019	0.996
18	71998178	G	A	18	74330943	y	y	splicing	C18orf63(NM_001174123:exon7:c.501+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.501+1G>A)	.	.	0.999989528922238	0.938
18	71998178	G	C	18	74330943	y	y	splicing	C18orf63(NM_001174123:exon7:c.501+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.501+1G>C)	.	.	0.999989528922238	0.938
18	71998178	G	T	18	74330943	y	y	splicing	C18orf63(NM_001174123:exon7:c.501+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.501+1G>T)	.	.	0.999989528922238	0.938
18	71998179	T	A	18	74330944	y	y	splicing	C18orf63(NM_001174123:exon7:c.501+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.501+2T>A)	.	.	0.999990764389106	0.932
18	71998179	T	C	18	74330944	y	y	splicing	C18orf63(NM_001174123:exon7:c.501+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.501+2T>C)	.	.	0.992782089656752	0.612
18	71998179	T	G	18	74330944	y	y	splicing	C18orf63(NM_001174123:exon7:c.501+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon7:c.501+2T>G)	.	.	0.999990764389106	0.932
18	71998180	A	C	18	74330945	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999947927104062	0.978
18	71998180	A	G	18	74330945	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999822627255906	0.976
18	71998180	A	T	18	74330945	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999966194550125	0.99
18	71998181	C	A	18	74330946	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.09805746046482E-4	0.042
18	71998181	C	G	18	74330946	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00208084246665982	0.126
18	71998181	C	T	18	74330946	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00139068826400104	0.092
18	71998182	C	A	18	74330947	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.21299545823802E-4	0.072
18	71998182	C	G	18	74330947	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.96983360075311E-4	0.046
18	71998182	C	T	18	74330947	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.2462294366465E-4	0.014
18	71998183	A	C	18	74330948	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00383425030018876	0.134
18	71998183	A	G	18	74330948	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.05215940985165E-4	0.18
18	71998183	A	T	18	74330948	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.62229382359138E-4	0.026
18	71998184	T	A	18	74330949	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.7175952262885E-4	0.03
18	71998184	T	C	18	74330949	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.97978074350724E-4	0.0
18	71998184	T	G	18	74330949	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.97274993118489E-5	0.0
18	71998185	A	C	18	74330950	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.72009936580556E-4	0.014
18	71998185	A	G	18	74330950	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00105182778430425	0.014
18	71998185	A	T	18	74330950	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00116157009481997	0.006
18	72005938	T	A	18	74338703	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0730349325388485	0.478
18	72005938	T	C	18	74338703	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00141239446072318	0.108
18	72005938	T	G	18	74338703	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0403321141367138	0.488
18	72005939	T	A	18	74338704	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.907391592531093	0.688
18	72005939	T	C	18	74338704	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00693414584485265	0.298
18	72005939	T	G	18	74338704	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.633545170052089	0.606
18	72005940	C	A	18	74338705	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0359801768494507	0.344
18	72005940	C	G	18	74338705	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0290839451830065	0.304
18	72005940	C	T	18	74338705	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.23945393279505E-4	0.04
18	72005941	T	A	18	74338706	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.42379042647295E-4	0.168
18	72005941	T	C	18	74338706	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.33271522836108E-5	0.024
18	72005941	T	G	18	74338706	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0016613645269565	0.228
18	72005942	A	C	18	74338707	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.1807953701324E-5	0.02
18	72005942	A	G	18	74338707	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.94896670170869E-5	0.026
18	72005942	A	T	18	74338707	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.79315286763218E-5	0.016
18	72005943	T	A	18	74338708	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.940981666182042	0.58
18	72005943	T	C	18	74338708	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.39936669411183E-4	0.056
18	72005943	T	G	18	74338708	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999207363171836	0.964
18	72005944	T	A	18	74338709	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00309919146495725	0.348
18	72005944	T	C	18	74338709	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.0673491540839E-5	0.042
18	72005944	T	G	18	74338709	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0569971506158814	0.538
18	72005945	A	C	18	74338710	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.03405291699959E-5	0.004
18	72005945	A	G	18	74338710	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.30036759935883E-5	0.028
18	72005945	A	T	18	74338710	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.53226465038104E-5	0.034
18	72005946	A	C	18	74338711	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.22559673555235E-4	0.064
18	72005946	A	G	18	74338711	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999028015365893	0.954
18	72005946	A	T	18	74338711	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00134876846911274	0.078
18	72005947	A	C	18	74338712	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.05890146731993E-4	0.136
18	72005947	A	G	18	74338712	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0314088224312672	0.292
18	72005947	A	T	18	74338712	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.97659006774466E-4	0.046
18	72005948	A	C	18	74338713	y	y	splicing	C18orf63(NM_001174123:exon8:c.502-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.502-2A>C)	.	.	0.99991612426918	0.848
18	72005948	A	G	18	74338713	y	y	splicing	C18orf63(NM_001174123:exon8:c.502-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.502-2A>G)	.	.	0.99991612426918	0.846
18	72005948	A	T	18	74338713	y	y	splicing	C18orf63(NM_001174123:exon8:c.502-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.502-2A>T)	.	.	0.999918281598377	0.862
18	72005949	G	A	18	74338714	y	y	splicing	C18orf63(NM_001174123:exon8:c.502-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.502-1G>A)	.	.	0.999880609660148	0.878
18	72005949	G	C	18	74338714	y	y	splicing	C18orf63(NM_001174123:exon8:c.502-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.502-1G>C)	.	.	0.999877457930538	0.862
18	72005949	G	T	18	74338714	y	y	splicing	C18orf63(NM_001174123:exon8:c.502-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.502-1G>T)	.	.	0.999880609660148	0.876
18	72005950	C	A	18	74338715	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.C502A:p.L168I;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.C502A:p.L168I;	2.0501680790099E-4	0.016
18	72005950	C	G	18	74338715	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.C502G:p.L168V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.C502G:p.L168V;	5.05125757472886E-4	0.214
18	72005950	C	T	18	74338715	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon8:c.C502T:p.L168L;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.C502T:p.L168L;	0.00133408730364809	0.19
18	72005951	T	A	18	74338716	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.T503A:p.L168Q;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.T503A:p.L168Q;	0.00217281665307351	0.114
18	72005951	T	C	18	74338716	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.T503C:p.L168P;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.T503C:p.L168P;	0.00261989148950437	0.094
18	72005951	T	G	18	74338716	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.T503G:p.L168R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.T503G:p.L168R;	0.00126259297947862	0.084
18	72006057	A	C	18	74338822	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon8:c.A609C:p.P203P;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.A609C:p.P203P;	8.25569287542085E-5	0.0
18	72006057	A	G	18	74338822	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon8:c.A609G:p.P203P;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.A609G:p.P203P;	0.00476037409257449	0.05
18	72006057	A	T	18	74338822	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon8:c.A609T:p.P203P;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.A609T:p.P203P;	0.0958800685417108	0.424
18	72006058	A	C	18	74338823	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.A610C:p.S204R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.A610C:p.S204R;	0.895894780392624	0.78
18	72006058	A	G	18	74338823	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.A610G:p.S204G;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.A610G:p.S204G;	0.991108659468455	0.914
18	72006058	A	T	18	74338823	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.A610T:p.S204C;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.A610T:p.S204C;	0.989411548468785	0.896
18	72006059	G	A	18	74338824	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.G611A:p.S204N;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.G611A:p.S204N;	0.999640393016712	0.994
18	72006059	G	C	18	74338824	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.G611C:p.S204T;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.G611C:p.S204T;	0.999983280383852	0.994
18	72006059	G	T	18	74338824	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon8:c.G611T:p.S204I;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon8:c.G611T:p.S204I;	0.999139535903142	0.984
18	72006060	G	A	18	74338825	y	y	splicing	C18orf63(NM_001174123:exon8:c.611+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.611+1G>A)	.	.	0.999986675681007	0.934
18	72006060	G	C	18	74338825	y	y	splicing	C18orf63(NM_001174123:exon8:c.611+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.611+1G>C)	.	.	0.999986675681007	0.934
18	72006060	G	T	18	74338825	y	y	splicing	C18orf63(NM_001174123:exon8:c.611+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.611+1G>T)	.	.	0.999986675681007	0.934
18	72006061	T	A	18	74338826	y	y	splicing	C18orf63(NM_001174123:exon8:c.611+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.611+2T>A)	.	.	0.999988247793601	0.928
18	72006061	T	C	18	74338826	y	y	splicing	C18orf63(NM_001174123:exon8:c.611+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.611+2T>C)	.	.	0.99991520749976	0.858
18	72006061	T	G	18	74338826	y	y	splicing	C18orf63(NM_001174123:exon8:c.611+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon8:c.611+2T>G)	.	.	0.999988247793601	0.928
18	72006062	G	A	18	74338827	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.15545765282773E-4	0.018
18	72006062	G	C	18	74338827	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.249138972422427	0.472
18	72006062	G	T	18	74338827	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.187063510510962	0.42
18	72006063	A	C	18	74338828	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.541594475037302	0.358
18	72006063	A	G	18	74338828	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.90231123264215	0.626
18	72006063	A	T	18	74338828	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.96857808615173	0.638
18	72006064	G	A	18	74338829	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.991058431399425	0.926
18	72006064	G	C	18	74338829	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.995270244535794	0.816
18	72006064	G	T	18	74338829	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.990354929989893	0.94
18	72006065	A	C	18	74338830	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00127124772658118	0.068
18	72006065	A	G	18	74338830	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.88610439521404E-4	0.002
18	72006065	A	T	18	74338830	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.79158120058026E-4	0.028
18	72006066	T	A	18	74338831	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.87838433744219E-4	0.058
18	72006066	T	C	18	74338831	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.35982085345677E-4	0.004
18	72006066	T	G	18	74338831	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.42010059943368E-4	0.002
18	72006067	T	A	18	74338832	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00352488156323383	0.016
18	72006067	T	C	18	74338832	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00361850470713122	0.002
18	72006067	T	G	18	74338832	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00106472840520139	0.002
18	72009255	C	A	18	74342020	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00119147016305459	0.11
18	72009255	C	G	18	74342020	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.49771619022143E-4	0.02
18	72009255	C	T	18	74342020	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.4985259695886E-5	0.042
18	72009256	A	C	18	74342021	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.71792154409306E-5	0.002
18	72009256	A	G	18	74342021	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.86149775768393E-5	0.0
18	72009256	A	T	18	74342021	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.859705270917E-4	0.132
18	72009257	T	A	18	74342022	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00393690966639504	0.17
18	72009257	T	C	18	74342022	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.5442333677924E-4	0.036
18	72009257	T	G	18	74342022	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999389353917288	0.956
18	72009258	T	A	18	74342023	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0128150705956129	0.178
18	72009258	T	C	18	74342023	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.74388082588162E-4	0.02
18	72009258	T	G	18	74342023	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0114653610283108	0.15
18	72009259	T	A	18	74342024	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00968182322256136	0.14
18	72009259	T	C	18	74342024	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.7913838593536E-4	0.0
18	72009259	T	G	18	74342024	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00437046328390682	0.18
18	72009260	T	A	18	74342025	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0056740757637942	0.054
18	72009260	T	C	18	74342025	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.119621170728E-4	0.002
18	72009260	T	G	18	74342025	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00510693406783743	0.074
18	72009261	T	A	18	74342026	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00188842509300678	0.114
18	72009261	T	C	18	74342026	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.68191135270968E-4	0.008
18	72009261	T	G	18	74342026	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00100362038213475	0.1
18	72009262	C	A	18	74342027	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00698727671750448	0.134
18	72009262	C	G	18	74342027	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00242853825315468	0.106
18	72009262	C	T	18	74342027	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.01641672873004E-5	0.0
18	72009263	A	C	18	74342028	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.74600096976828E-5	0.004
18	72009263	A	G	18	74342028	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.53701399657844E-4	0.046
18	72009263	A	T	18	74342028	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.07910308200002E-5	0.012
18	72009264	T	A	18	74342029	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0209015159845847	0.272
18	72009264	T	C	18	74342029	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.63578829457076E-5	0.004
18	72009264	T	G	18	74342029	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998784558673781	0.772
18	72009265	A	C	18	74342030	y	y	splicing	C18orf63(NM_001174123:exon9:c.612-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.612-2A>C)	.	.	0.999988247793601	0.928
18	72009265	A	G	18	74342030	y	y	splicing	C18orf63(NM_001174123:exon9:c.612-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.612-2A>G)	.	.	0.999988247793601	0.926
18	72009265	A	T	18	74342030	y	y	splicing	C18orf63(NM_001174123:exon9:c.612-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.612-2A>T)	.	.	0.999988247793601	0.928
18	72009266	G	A	18	74342031	y	y	splicing	C18orf63(NM_001174123:exon9:c.612-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.612-1G>A)	.	.	0.999985532734767	0.938
18	72009266	G	C	18	74342031	y	y	splicing	C18orf63(NM_001174123:exon9:c.612-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.612-1G>C)	.	.	0.999985532734767	0.938
18	72009266	G	T	18	74342031	y	y	splicing	C18orf63(NM_001174123:exon9:c.612-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.612-1G>T)	.	.	0.999985532734767	0.938
18	72009267	T	A	18	74342032	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.T612A:p.S204R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.T612A:p.S204R;	2.09848529850042E-5	0.0
18	72009267	T	C	18	74342032	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon9:c.T612C:p.S204S;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.T612C:p.S204S;	3.37971469264101E-5	0.004
18	72009267	T	G	18	74342032	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.T612G:p.S204R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.T612G:p.S204R;	2.51974678136985E-4	0.042
18	72009268	A	C	18	74342033	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.A613C:p.M205L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.A613C:p.M205L;	0.0908232123629181	0.328
18	72009268	A	G	18	74342033	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.A613G:p.M205V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.A613G:p.M205V;	0.00601571443310993	0.032
18	72009268	A	T	18	74342033	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.A613T:p.M205L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.A613T:p.M205L;	0.0496840000066042	0.356
18	72009361	C	A	18	74342126	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.C706A:p.L236M;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.C706A:p.L236M;	4.04589249791416E-5	0.01
18	72009361	C	G	18	74342126	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.C706G:p.L236V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.C706G:p.L236V;	4.8842707314935E-5	0.004
18	72009361	C	T	18	74342126	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon9:c.C706T:p.L236L;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.C706T:p.L236L;	1.32040168619528E-4	0.01
18	72009362	T	A	18	74342127	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.T707A:p.L236Q;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.T707A:p.L236Q;	0.00231928988613642	0.072
18	72009362	T	C	18	74342127	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.T707C:p.L236P;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.T707C:p.L236P;	0.00303340871028763	0.104
18	72009362	T	G	18	74342127	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon9:c.T707G:p.L236R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.T707G:p.L236R;	0.00590369340922548	0.144
18	72009363	G	A	18	74342128	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon9:c.G708A:p.L236L;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.G708A:p.L236L;	0.999832638275904	0.99
18	72009363	G	C	18	74342128	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon9:c.G708C:p.L236L;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.G708C:p.L236L;	0.999929516465298	0.934
18	72009363	G	T	18	74342128	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon9:c.G708T:p.L236L;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon9:c.G708T:p.L236L;	0.999879986861741	0.972
18	72009364	G	A	18	74342129	y	y	splicing	C18orf63(NM_001174123:exon9:c.708+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.708+1G>A)	.	.	0.999986675681007	0.932
18	72009364	G	C	18	74342129	y	y	splicing	C18orf63(NM_001174123:exon9:c.708+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.708+1G>C)	.	.	0.999986675681007	0.932
18	72009364	G	T	18	74342129	y	y	splicing	C18orf63(NM_001174123:exon9:c.708+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.708+1G>T)	.	.	0.999986675681007	0.932
18	72009365	T	A	18	74342130	y	y	splicing	C18orf63(NM_001174123:exon9:c.708+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.708+2T>A)	.	.	0.999988247793601	0.926
18	72009365	T	C	18	74342130	y	y	splicing	C18orf63(NM_001174123:exon9:c.708+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.708+2T>C)	.	.	0.999897703382408	0.888
18	72009365	T	G	18	74342130	y	y	splicing	C18orf63(NM_001174123:exon9:c.708+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon9:c.708+2T>G)	.	.	0.999988247793601	0.926
18	72009366	A	C	18	74342131	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.992915578876208	0.764
18	72009366	A	G	18	74342131	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00999113107865598	0.17
18	72009366	A	T	18	74342131	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.995628317756934	0.734
18	72009367	A	C	18	74342132	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.533157322292125	0.39
18	72009367	A	G	18	74342132	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.891591398851236	0.642
18	72009367	A	T	18	74342132	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.706487488674095	0.542
18	72009368	G	A	18	74342133	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999898214222152	0.964
18	72009368	G	C	18	74342133	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.99990575060385	0.944
18	72009368	G	T	18	74342133	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999485004834923	0.924
18	72009369	G	A	18	74342134	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.02949840921439E-4	0.002
18	72009369	G	C	18	74342134	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.5357582494754E-5	0.008
18	72009369	G	T	18	74342134	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.73688778528699E-5	0.0
18	72009370	A	C	18	74342135	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.91017441597401E-4	0.004
18	72009370	A	G	18	74342135	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.6565969168813E-5	0.002
18	72009370	A	T	18	74342135	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.44992225970152E-4	0.002
18	72009371	A	C	18	74342136	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00742911828737636	0.042
18	72009371	A	G	18	74342136	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00318320130771389	0.036
18	72009371	A	T	18	74342136	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00775010521676768	0.08
18	72009464	C	A	18	74342229	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0643611492222375	0.228
18	72009464	C	G	18	74342229	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.087239456658946	0.216
18	72009464	C	T	18	74342229	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00158757921282888	0.096
18	72009465	T	A	18	74342230	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.992394810910533	0.79
18	72009465	T	C	18	74342230	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.091508380871603	0.338
18	72009465	T	G	18	74342230	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.800666405875821	0.766
18	72009466	T	A	18	74342231	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999764528581043	0.874
18	72009466	T	C	18	74342231	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.754285182651222	0.376
18	72009466	T	G	18	74342231	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999627353600289	0.892
18	72009467	A	C	18	74342232	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.47404323303257E-5	0.002
18	72009467	A	G	18	74342232	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.90279897743315E-4	0.008
18	72009467	A	T	18	74342232	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.47404323303257E-5	0.008
18	72009468	A	C	18	74342233	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.18550055073762E-5	0.008
18	72009468	A	G	18	74342233	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998586172846651	0.962
18	72009468	A	T	18	74342233	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.99627747647677E-4	0.008
18	72009469	T	A	18	74342234	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00343503002751467	0.164
18	72009469	T	C	18	74342234	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.5937525333721E-5	0.06
18	72009469	T	G	18	74342234	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999976843512722	0.988
18	72009470	T	A	18	74342235	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.983894141436007	0.602
18	72009470	T	C	18	74342235	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00932406567375629	0.196
18	72009470	T	G	18	74342235	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.979486079842725	0.574
18	72009471	T	A	18	74342236	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997815316467632	0.766
18	72009471	T	C	18	74342236	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.149014572397958	0.316
18	72009471	T	G	18	74342236	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997913894473797	0.746
18	72009472	T	A	18	74342237	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00358547377515372	0.062
18	72009472	T	C	18	74342237	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00277490486984025	0.174
18	72009472	T	G	18	74342237	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0235175744191179	0.174
18	72009473	T	A	18	74342238	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00781246238415287	0.246
18	72009473	T	C	18	74342238	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.75006414791057E-5	0.052
18	72009473	T	G	18	74342238	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.975097733730062	0.614
18	72009474	A	C	18	74342239	y	y	splicing	C18orf63(NM_001174123:exon10:c.709-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon10:c.709-2A>C)	.	.	0.999994064153128	0.932
18	72009474	A	G	18	74342239	y	y	splicing	C18orf63(NM_001174123:exon10:c.709-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon10:c.709-2A>G)	.	.	0.999994064153128	0.932
18	72009474	A	T	18	74342239	y	y	splicing	C18orf63(NM_001174123:exon10:c.709-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon10:c.709-2A>T)	.	.	0.999994064153128	0.932
18	72009475	G	A	18	74342240	y	y	splicing	C18orf63(NM_001174123:exon10:c.709-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon10:c.709-1G>A)	.	.	0.999993681177991	0.926
18	72009475	G	C	18	74342240	y	y	splicing	C18orf63(NM_001174123:exon10:c.709-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon10:c.709-1G>C)	.	.	0.999993681177991	0.926
18	72009475	G	T	18	74342240	y	y	splicing	C18orf63(NM_001174123:exon10:c.709-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon10:c.709-1G>T)	.	.	0.999993681177991	0.926
18	72009476	T	A	18	74342241	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon10:c.T709A:p.Y237N;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon10:c.T709A:p.Y237N;	0.00131319705132603	0.008
18	72009476	T	C	18	74342241	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon10:c.T709C:p.Y237H;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon10:c.T709C:p.Y237H;	0.00150570097757968	0.11
18	72009476	T	G	18	74342241	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon10:c.T709G:p.Y237D;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon10:c.T709G:p.Y237D;	0.00574440448466333	0.134
18	72009477	A	C	18	74342242	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon10:c.A710C:p.Y237S;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon10:c.A710C:p.Y237S;	0.00700067366666661	0.064
18	72009477	A	G	18	74342242	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon10:c.A710G:p.Y237C;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon10:c.A710G:p.Y237C;	0.0145994791398034	0.036
18	72009477	A	T	18	74342242	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon10:c.A710T:p.Y237F;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon10:c.A710T:p.Y237F;	0.00528769040900843	0.092
18	72010742	A	C	18	74343507	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.554132508503616	0.556
18	72010742	A	G	18	74343507	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.774871661015854	0.728
18	72010742	A	T	18	74343507	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.52558588377265	0.5
18	72010743	A	C	18	74343508	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.554428500683431	0.552
18	72010743	A	G	18	74343508	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999703191696155	0.936
18	72010743	A	T	18	74343508	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.636358974139526	0.496
18	72010744	C	A	18	74343509	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.982590498298835	0.65
18	72010744	C	G	18	74343509	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999959824973993	0.932
18	72010744	C	T	18	74343509	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.748024254023561	0.594
18	72010745	A	C	18	74343510	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.97577281569907E-5	0.006
18	72010745	A	G	18	74343510	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.72406465269023E-5	0.004
18	72010745	A	T	18	74343510	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.01046005241823E-5	0.008
18	72010746	T	A	18	74343511	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0135928953945086	0.264
18	72010746	T	C	18	74343511	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.74989829073731E-4	0.01
18	72010746	T	G	18	74343511	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999684193444853	0.934
18	72010747	T	A	18	74343512	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999909741225193	0.99
18	72010747	T	C	18	74343512	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00187814083384288	0.064
18	72010747	T	G	18	74343512	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.873150135364321	0.756
18	72010748	G	A	18	74343513	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0113087604787395	0.092
18	72010748	G	C	18	74343513	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00158335029795249	0.034
18	72010748	G	T	18	74343513	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00179626264857384	0.038
18	72010749	T	A	18	74343514	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.917280580059892	0.594
18	72010749	T	C	18	74343514	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00379466296236581	0.222
18	72010749	T	G	18	74343514	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.989215844392194	0.63
18	72010750	T	A	18	74343515	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.33184449713667E-4	0.004
18	72010750	T	C	18	74343515	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00109977892203832	0.02
18	72010750	T	G	18	74343515	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.07962568694354E-4	0.16
18	72010751	C	A	18	74343516	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.995971671806124	0.87
18	72010751	C	G	18	74343516	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999965311973746	0.926
18	72010751	C	T	18	74343516	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0149533517816579	0.1
18	72010752	A	C	18	74343517	y	y	splicing	C18orf63(NM_001174123:exon11:c.795-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.795-2A>C)	.	.	0.999986607513753	0.922
18	72010752	A	G	18	74343517	y	y	splicing	C18orf63(NM_001174123:exon11:c.795-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.795-2A>G)	.	.	0.999986607513753	0.922
18	72010752	A	T	18	74343517	y	y	splicing	C18orf63(NM_001174123:exon11:c.795-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.795-2A>T)	.	.	0.999986607513753	0.922
18	72010753	G	A	18	74343518	y	y	splicing	C18orf63(NM_001174123:exon11:c.795-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.795-1G>A)	.	.	0.999969168480281	0.844
18	72010753	G	C	18	74343518	y	y	splicing	C18orf63(NM_001174123:exon11:c.795-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.795-1G>C)	.	.	0.999956783468477	0.816
18	72010753	G	T	18	74343518	y	y	splicing	C18orf63(NM_001174123:exon11:c.795-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.795-1G>T)	.	.	0.99996809302623	0.838
18	72010754	A	C	18	74343519	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon11:c.A795C:p.T265T;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.A795C:p.T265T;	0.00704335340338316	0.182
18	72010754	A	G	18	74343519	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon11:c.A795G:p.T265T;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.A795G:p.T265T;	1.23948134391815E-4	0.0
18	72010754	A	T	18	74343519	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon11:c.A795T:p.T265T;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.A795T:p.T265T;	0.00937218369636866	0.232
18	72010755	T	A	18	74343520	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.T796A:p.Y266N;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.T796A:p.Y266N;	0.0473084786534757	0.19
18	72010755	T	C	18	74343520	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.T796C:p.Y266H;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.T796C:p.Y266H;	0.124872348503554	0.158
18	72010755	T	G	18	74343520	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.T796G:p.Y266D;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.T796G:p.Y266D;	0.0564627966621597	0.18
18	72010935	C	A	18	74343700	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.C976A:p.Q326K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.C976A:p.Q326K;	0.0113249409166443	0.112
18	72010935	C	G	18	74343700	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.C976G:p.Q326E;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.C976G:p.Q326E;	0.00824843440909682	0.102
18	72010935	C	T	18	74343700	y	y	exonic	C18orf63	stopgain SNV	C18orf63:NM_001174123:exon11:c.C976T:p.Q326X;	exonic	ENSG00000206043	stopgain SNV	ENSG00000206043:ENST00000579455:exon11:c.C976T:p.Q326X;	0.998606299416793	0.836
18	72010936	A	C	18	74343701	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.A977C:p.Q326P;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.A977C:p.Q326P;	0.0813024954460271	0.42
18	72010936	A	G	18	74343701	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.A977G:p.Q326R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.A977G:p.Q326R;	0.0668955978613338	0.254
18	72010936	A	T	18	74343701	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.A977T:p.Q326L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.A977T:p.Q326L;	0.0970679192748926	0.36
18	72010937	G	A	18	74343702	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon11:c.G978A:p.Q326Q;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.G978A:p.Q326Q;	0.990696095050001	0.768
18	72010937	G	C	18	74343702	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.G978C:p.Q326H;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.G978C:p.Q326H;	0.998675028599355	0.79
18	72010937	G	T	18	74343702	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon11:c.G978T:p.Q326H;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon11:c.G978T:p.Q326H;	0.999883672640796	0.9
18	72010938	G	A	18	74343703	y	y	splicing	C18orf63(NM_001174123:exon11:c.978+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.978+1G>A)	.	.	0.99995545544995	0.936
18	72010938	G	C	18	74343703	y	y	splicing	C18orf63(NM_001174123:exon11:c.978+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.978+1G>C)	.	.	0.99995545544995	0.944
18	72010938	G	T	18	74343703	y	y	splicing	C18orf63(NM_001174123:exon11:c.978+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.978+1G>T)	.	.	0.99995545544995	0.944
18	72010939	T	A	18	74343704	y	y	splicing	C18orf63(NM_001174123:exon11:c.978+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.978+2T>A)	.	.	0.99994568797423	0.942
18	72010939	T	C	18	74343704	y	y	splicing	C18orf63(NM_001174123:exon11:c.978+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.978+2T>C)	.	.	0.952527091078767	0.702
18	72010939	T	G	18	74343704	y	y	splicing	C18orf63(NM_001174123:exon11:c.978+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon11:c.978+2T>G)	.	.	0.99994568797423	0.946
18	72010940	A	C	18	74343705	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.924061010556768	0.626
18	72010940	A	G	18	74343705	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.025515568638308	0.228
18	72010940	A	T	18	74343705	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.987130619101003	0.682
18	72010941	A	C	18	74343706	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.375866856312692	0.55
18	72010941	A	G	18	74343706	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.680929487044989	0.438
18	72010941	A	T	18	74343706	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.724872419262079	0.622
18	72010942	G	A	18	74343707	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.790205222246319	0.494
18	72010942	G	C	18	74343707	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.571278174759888	0.396
18	72010942	G	T	18	74343707	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.731083613161197	0.51
18	72010943	A	C	18	74343708	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.08921404271585E-5	0.014
18	72010943	A	G	18	74343708	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.93135099039269E-5	0.0
18	72010943	A	T	18	74343708	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.3327140429283E-5	0.0
18	72010944	G	A	18	74343709	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.21810797065948E-5	0.0
18	72010944	G	C	18	74343709	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.8859679585066E-6	0.002
18	72010944	G	T	18	74343709	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.34530292931217E-5	0.018
18	72010945	A	C	18	74343710	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.01360650998576E-5	0.004
18	72010945	A	G	18	74343710	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.10172243913214E-4	0.002
18	72010945	A	T	18	74343710	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.25211152755068E-5	0.0
18	72020469	T	A	18	74353234	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00528783896689871	0.302
18	72020469	T	C	18	74353234	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.88993432647479E-4	0.05
18	72020469	T	G	18	74353234	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00485567354995708	0.288
18	72020470	A	C	18	74353235	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.74834987226467E-6	0.0
18	72020470	A	G	18	74353235	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.74834987226467E-6	0.004
18	72020470	A	T	18	74353235	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.70675545115546E-5	0.05
18	72020471	T	A	18	74353236	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00265564979111227	0.128
18	72020471	T	C	18	74353236	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.92862470390762E-5	0.0
18	72020471	T	G	18	74353236	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999407065221973	0.98
18	72020472	C	A	18	74353237	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.93231656758082E-4	0.03
18	72020472	C	G	18	74353237	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.44041270921282E-4	0.044
18	72020472	C	T	18	74353237	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.07994972835155E-5	0.0
18	72020473	C	A	18	74353238	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.83782251227466E-4	0.078
18	72020473	C	G	18	74353238	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.41294274903617E-5	0.046
18	72020473	C	T	18	74353238	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.01262112461475E-5	0.002
18	72020474	T	A	18	74353239	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.81777620876082E-5	0.004
18	72020474	T	C	18	74353239	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.95581093435513E-5	0.0
18	72020474	T	G	18	74353239	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.18593841095039E-5	0.01
18	72020475	T	A	18	74353240	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0323396284148563	0.274
18	72020475	T	C	18	74353240	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00706190024726835	0.076
18	72020475	T	G	18	74353240	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0339370886621668	0.252
18	72020476	T	A	18	74353241	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.443768292462522	0.542
18	72020476	T	C	18	74353241	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0695433205686636	0.234
18	72020476	T	G	18	74353241	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.518306428240313	0.528
18	72020477	T	A	18	74353242	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.77732930494904E-4	0.008
18	72020477	T	C	18	74353242	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.12666746101848E-4	0.0
18	72020477	T	G	18	74353242	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.01332232684202E-4	0.002
18	72020478	C	A	18	74353243	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.624669725561603	0.442
18	72020478	C	G	18	74353243	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.99794225488696	0.912
18	72020478	C	T	18	74353243	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00164513398889932	0.022
18	72020479	A	C	18	74353244	y	y	splicing	C18orf63(NM_001174123:exon12:c.979-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.979-2A>C)	.	.	0.999988247793601	0.93
18	72020479	A	G	18	74353244	y	y	splicing	C18orf63(NM_001174123:exon12:c.979-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.979-2A>G)	.	.	0.999988247793601	0.93
18	72020479	A	T	18	74353244	y	y	splicing	C18orf63(NM_001174123:exon12:c.979-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.979-2A>T)	.	.	0.999988247793601	0.93
18	72020480	G	A	18	74353245	y	y	splicing	C18orf63(NM_001174123:exon12:c.979-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.979-1G>A)	.	.	0.999990361384395	0.936
18	72020480	G	C	18	74353245	y	y	splicing	C18orf63(NM_001174123:exon12:c.979-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.979-1G>C)	.	.	0.999990361384395	0.936
18	72020480	G	T	18	74353245	y	y	splicing	C18orf63(NM_001174123:exon12:c.979-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.979-1G>T)	.	.	0.999990361384395	0.936
18	72020481	G	A	18	74353246	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.G979A:p.E327K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.G979A:p.E327K;	0.155860039489148	0.344
18	72020481	G	C	18	74353246	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.G979C:p.E327Q;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.G979C:p.E327Q;	0.826010486607179	0.614
18	72020481	G	T	18	74353246	y	y	exonic	C18orf63	stopgain SNV	C18orf63:NM_001174123:exon12:c.G979T:p.E327X;	exonic	ENSG00000206043	stopgain SNV	ENSG00000206043:ENST00000579455:exon12:c.G979T:p.E327X;	0.990900054756631	0.896
18	72020482	A	C	18	74353247	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.A980C:p.E327A;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.A980C:p.E327A;	5.74591609375131E-4	0.038
18	72020482	A	G	18	74353247	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.A980G:p.E327G;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.A980G:p.E327G;	2.17364363560225E-4	0.036
18	72020482	A	T	18	74353247	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.A980T:p.E327V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.A980T:p.E327V;	1.01729034349547E-4	0.006
18	72021501	C	A	18	74354266	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.C1999A:p.Q667K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.C1999A:p.Q667K;	0.0010249342307325	0.046
18	72021501	C	G	18	74354266	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.C1999G:p.Q667E;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.C1999G:p.Q667E;	0.00760258322297768	0.118
18	72021501	C	T	18	74354266	y	y	exonic	C18orf63	stopgain SNV	C18orf63:NM_001174123:exon12:c.C1999T:p.Q667X;	exonic	ENSG00000206043	stopgain SNV	ENSG00000206043:ENST00000579455:exon12:c.C1999T:p.Q667X;	0.995489481524498	0.894
18	72021502	A	C	18	74354267	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.A2000C:p.Q667P;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.A2000C:p.Q667P;	0.926357343711193	0.652
18	72021502	A	G	18	74354267	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.A2000G:p.Q667R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.A2000G:p.Q667R;	0.997009337156689	0.72
18	72021502	A	T	18	74354267	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.A2000T:p.Q667L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.A2000T:p.Q667L;	0.994733845700446	0.724
18	72021503	G	A	18	74354268	y	y	exonic	C18orf63	synonymous SNV	C18orf63:NM_001174123:exon12:c.G2001A:p.Q667Q;	exonic	ENSG00000206043	synonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.G2001A:p.Q667Q;	0.999975492185983	0.992
18	72021503	G	C	18	74354268	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.G2001C:p.Q667H;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.G2001C:p.Q667H;	0.999995932759715	0.994
18	72021503	G	T	18	74354268	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.G2001T:p.Q667H;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon12:c.G2001T:p.Q667H;	0.999974722571615	0.956
18	72021504	G	A	18	74354269	y	y	splicing	C18orf63(NM_001174123:exon12:c.2001+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.2001+1G>A)	.	.	0.999972300204905	0.908
18	72021504	G	C	18	74354269	y	y	splicing	C18orf63(NM_001174123:exon12:c.2001+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.2001+1G>C)	.	.	0.999972300204905	0.9
18	72021504	G	T	18	74354269	y	y	splicing	C18orf63(NM_001174123:exon12:c.2001+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.2001+1G>T)	.	.	0.999972300204905	0.906
18	72021505	T	A	18	74354270	y	y	splicing	C18orf63(NM_001174123:exon12:c.2001+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.2001+2T>A)	.	.	0.999946188727699	0.944
18	72021505	T	C	18	74354270	y	y	splicing	C18orf63(NM_001174123:exon12:c.2001+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.2001+2T>C)	.	.	0.988447838215662	0.702
18	72021505	T	G	18	74354270	y	y	splicing	C18orf63(NM_001174123:exon12:c.2001+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon12:c.2001+2T>G)	.	.	0.999946188727699	0.938
18	72021506	A	C	18	74354271	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999791357700363	0.946
18	72021506	A	G	18	74354271	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.982521396905152	0.57
18	72021506	A	T	18	74354271	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999730535434029	0.92
18	72021507	A	C	18	74354272	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.452421307760076	0.422
18	72021507	A	G	18	74354272	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.519804231006033	0.562
18	72021507	A	T	18	74354272	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.535558022533617	0.442
18	72021508	A	C	18	74354273	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.47374267692385E-5	0.018
18	72021508	A	G	18	74354273	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.99101902053302E-4	0.124
18	72021508	A	T	18	74354273	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.35434835046101E-4	0.014
18	72021509	A	C	18	74354274	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	8.22877011736445E-5	0.046
18	72021509	A	G	18	74354274	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.51851003018306E-5	0.008
18	72021509	A	T	18	74354274	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.96593420907639E-5	0.014
18	72021510	A	C	18	74354275	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.25058133352807E-5	0.036
18	72021510	A	G	18	74354275	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.82262225414274E-5	0.042
18	72021510	A	T	18	74354275	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.07331831906466E-4	0.03
18	72021511	A	C	18	74354276	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.73929386292562E-5	0.0
18	72021511	A	G	18	74354276	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.35200038490713E-4	0.002
18	72021511	A	T	18	74354276	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.98187936635727E-5	0.0
18	72021680	A	C	18	74354445	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00156673272673068	0.024
18	72021680	A	G	18	74354445	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00213055232852508	0.022
18	72021680	A	T	18	74354445	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00180264213205663	0.02
18	72021681	A	C	18	74354446	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.35391715627267E-5	0.006
18	72021681	A	G	18	74354446	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999616872276474	0.988
18	72021681	A	T	18	74354446	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.9366798909214E-4	0.142
18	72021682	T	A	18	74354447	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.949524919907085	0.748
18	72021682	T	C	18	74354447	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00933956919674766	0.128
18	72021682	T	G	18	74354447	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.9999683809745	0.972
18	72021683	C	A	18	74354448	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0167704662157485	0.11
18	72021683	C	G	18	74354448	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0209144170293585	0.13
18	72021683	C	T	18	74354448	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.52078314422542E-4	0.04
18	72021684	T	A	18	74354449	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0423443182208472	0.246
18	72021684	T	C	18	74354449	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.38793320103413E-4	0.026
18	72021684	T	G	18	74354449	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.354970865364794	0.52
18	72021685	A	C	18	74354450	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.42777938211792E-5	0.0
18	72021685	A	G	18	74354450	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.75411952125632E-5	0.0
18	72021685	A	T	18	74354450	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.42777938211792E-5	0.004
18	72021686	A	C	18	74354451	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.07641463769078E-5	0.018
18	72021686	A	G	18	74354451	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.998056224444199	0.988
18	72021686	A	T	18	74354451	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.94026952356761E-5	0.044
18	72021687	T	A	18	74354452	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.539330900469233	0.546
18	72021687	T	C	18	74354452	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00881474057191104	0.106
18	72021687	T	G	18	74354452	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999905058143645	0.964
18	72021688	A	C	18	74354453	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	4.08271889484909E-4	0.056
18	72021688	A	G	18	74354453	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00104106122148031	0.066
18	72021688	A	T	18	74354453	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.84566201485433E-4	0.062
18	72021689	C	A	18	74354454	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.997841582540779	0.894
18	72021689	C	G	18	74354454	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.99968960443944	0.854
18	72021689	C	T	18	74354454	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00719112547817522	0.294
18	72021690	A	C	18	74354455	y	y	splicing	C18orf63(NM_001174123:exon13:c.2002-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2002-2A>C)	.	.	0.99998175524478	0.87
18	72021690	A	G	18	74354455	y	y	splicing	C18orf63(NM_001174123:exon13:c.2002-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2002-2A>G)	.	.	0.99998175524478	0.884
18	72021690	A	T	18	74354455	y	y	splicing	C18orf63(NM_001174123:exon13:c.2002-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2002-2A>T)	.	.	0.999983475715746	0.854
18	72021691	G	A	18	74354456	y	y	splicing	C18orf63(NM_001174123:exon13:c.2002-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2002-1G>A)	.	.	0.999965314197099	0.866
18	72021691	G	C	18	74354456	y	y	splicing	C18orf63(NM_001174123:exon13:c.2002-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2002-1G>C)	.	.	0.99995820954749	0.87
18	72021691	G	T	18	74354456	y	y	splicing	C18orf63(NM_001174123:exon13:c.2002-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2002-1G>T)	.	.	0.999965314197099	0.874
18	72021692	A	C	18	74354457	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon13:c.A2002C:p.I668L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon13:c.A2002C:p.I668L;	8.42107180198717E-4	0.068
18	72021692	A	G	18	74354457	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon13:c.A2002G:p.I668V;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon13:c.A2002G:p.I668V;	7.05522752311097E-5	0.01
18	72021692	A	T	18	74354457	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon13:c.A2002T:p.I668L;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon13:c.A2002T:p.I668L;	0.00326291570573887	0.1
18	72021693	T	A	18	74354458	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon13:c.T2003A:p.I668K;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon13:c.T2003A:p.I668K;	9.61852755641503E-4	0.126
18	72021693	T	C	18	74354458	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon13:c.T2003C:p.I668T;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon13:c.T2003C:p.I668T;	4.24552652622675E-4	0.1
18	72021693	T	G	18	74354458	y	y	exonic	C18orf63	nonsynonymous SNV	C18orf63:NM_001174123:exon13:c.T2003G:p.I668R;	exonic	ENSG00000206043	nonsynonymous SNV	ENSG00000206043:ENST00000579455:exon13:c.T2003G:p.I668R;	7.11613896022467E-4	0.114
18	72021779	C	A	18	74354544	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	1.64306811778286E-5	0.058
18	72021779	C	G	18	74354544	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	2.27459120360847E-5	0.042
18	72021779	C	T	18	74354544	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	0.0137005622070004	0.286
18	72021780	A	C	18	74354545	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	0.637258779885729	0.55
18	72021780	A	G	18	74354545	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	0.937373986763323	0.58
18	72021780	A	T	18	74354545	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	0.968743920768377	0.702
18	72021781	G	A	18	74354546	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	0.999375219579991	0.9
18	72021781	G	C	18	74354546	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	0.997890834666744	0.77
18	72021781	G	T	18	74354546	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	0.981467472923238	0.796
18	72021782	G	A	18	74354547	y	y	splicing	C18orf63(NM_001174123:exon13:c.2091+1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2091+1G>A)	.	.	0.99996887213458	0.756
18	72021782	G	C	18	74354547	y	y	splicing	C18orf63(NM_001174123:exon13:c.2091+1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2091+1G>C)	.	.	0.99996887213458	0.76
18	72021782	G	T	18	74354547	y	y	splicing	C18orf63(NM_001174123:exon13:c.2091+1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2091+1G>T)	.	.	0.99996887213458	0.758
18	72021783	T	A	18	74354548	y	y	splicing	C18orf63(NM_001174123:exon13:c.2091+2T>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2091+2T>A)	.	.	0.999945590422375	0.768
18	72021783	T	C	18	74354548	y	y	splicing	C18orf63(NM_001174123:exon13:c.2091+2T>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2091+2T>C)	.	.	0.949761911477058	0.498
18	72021783	T	G	18	74354548	y	y	splicing	C18orf63(NM_001174123:exon13:c.2091+2T>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon13:c.2091+2T>G)	.	.	0.999962956133083	0.77
18	72021784	A	C	18	74354549	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999654936362723	0.832
18	72021784	A	G	18	74354549	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.236569561300735	0.524
18	72021784	A	T	18	74354549	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999947075509515	0.846
18	72021785	A	C	18	74354550	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.809675029069053	0.466
18	72021785	A	G	18	74354550	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.78512468041102	0.568
18	72021785	A	T	18	74354550	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.42458300643492	0.38
18	72021786	C	A	18	74354551	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.63487631195558E-4	0.032
18	72021786	C	G	18	74354551	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.97799126831853E-4	0.122
18	72021786	C	T	18	74354551	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.48233102612522E-5	0.02
18	72021787	T	A	18	74354552	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00153285457932559	0.182
18	72021787	T	C	18	74354552	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00744600864115953	0.264
18	72021787	T	G	18	74354552	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00116999293359773	0.19
18	72021788	G	A	18	74354553	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.56422291881526E-5	0.002
18	72021788	G	C	18	74354553	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.56422291881526E-5	0.004
18	72021788	G	T	18	74354553	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.02850222842232E-4	0.002
18	72021789	A	C	18	74354554	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.2815891410576E-5	0.002
18	72021789	A	G	18	74354554	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.45925106563967E-4	0.002
18	72021789	A	T	18	74354554	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.30551964575005E-5	0.002
18	72023704	T	A	18	74356469	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	5.59195436572036E-4	0.082
18	72023704	T	C	18	74356469	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.31235451290257E-4	0.006
18	72023704	T	G	18	74356469	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.16382260928625E-4	0.092
18	72023705	T	A	18	74356470	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00155564771433597	0.196
18	72023705	T	C	18	74356470	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.87132425345985E-4	0.026
18	72023705	T	G	18	74356470	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00117714257666119	0.124
18	72023706	C	A	18	74356471	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.90969154086998E-5	0.01
18	72023706	C	G	18	74356471	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	9.91317844929542E-5	0.012
18	72023706	C	T	18	74356471	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.42047178334462E-5	0.004
18	72023707	T	A	18	74356472	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00286234148837763	0.084
18	72023707	T	C	18	74356472	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.06307590242253E-4	0.03
18	72023707	T	G	18	74356472	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00440235965614554	0.084
18	72023708	C	A	18	74356473	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00409640750869179	0.094
18	72023708	C	G	18	74356473	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00370959553579214	0.11
18	72023708	C	T	18	74356473	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	3.97521966155025E-5	0.004
18	72023709	T	A	18	74356474	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0215173354203767	0.152
18	72023709	T	C	18	74356474	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	6.19086240891785E-4	0.01
18	72023709	T	G	18	74356474	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0233720822090856	0.124
18	72023710	T	A	18	74356475	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00659662514481089	0.128
18	72023710	T	C	18	74356475	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.39401276367341E-4	0.012
18	72023710	T	G	18	74356475	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.0131823182307804	0.188
18	72023711	T	A	18	74356476	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.99896105819926	0.862
18	72023711	T	C	18	74356476	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.97267263636953E-4	0.018
18	72023711	T	G	18	74356476	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.00790716582547267	0.194
18	72023712	G	A	18	74356477	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	2.36026644427365E-5	0.0
18	72023712	G	C	18	74356477	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.01883306774969E-5	0.0
18	72023712	G	T	18	74356477	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	1.87919739168893E-5	0.0
18	72023713	C	A	18	74356478	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.865630140363852	0.512
18	72023713	C	G	18	74356478	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	0.999381279080687	0.88
18	72023713	C	T	18	74356478	y	y	intronic	C18orf63	.	.	intronic	ENSG00000206043	.	.	7.96928025114946E-4	0.078
18	72023714	A	C	18	74356479	y	y	splicing	C18orf63(NM_001174123:exon14:c.2092-2A>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon14:c.2092-2A>C)	.	.	0.999891894399488	0.848
18	72023714	A	G	18	74356479	y	y	splicing	C18orf63(NM_001174123:exon14:c.2092-2A>G)	.	.	splicing	ENSG00000206043(ENST00000579455:exon14:c.2092-2A>G)	.	.	0.999891894399488	0.844
18	72023714	A	T	18	74356479	y	y	splicing	C18orf63(NM_001174123:exon14:c.2092-2A>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon14:c.2092-2A>T)	.	.	0.99990208787191	0.846
18	72023715	G	A	18	74356480	y	y	splicing	C18orf63(NM_001174123:exon14:c.2092-1G>A)	.	.	splicing	ENSG00000206043(ENST00000579455:exon14:c.2092-1G>A)	.	.	0.999943620371814	0.916
18	72023715	G	C	18	74356480	y	y	splicing	C18orf63(NM_001174123:exon14:c.2092-1G>C)	.	.	splicing	ENSG00000206043(ENST00000579455:exon14:c.2092-1G>C)	.	.	0.999955485601963	0.896
18	72023715	G	T	18	74356480	y	y	splicing	C18orf63(NM_001174123:exon14:c.2092-1G>T)	.	.	splicing	ENSG00000206043(ENST00000579455:exon14:c.2092-1G>T)	.	.	0.999955485601963	0.898
18	72023716	A	C	18	74356481	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	4.86069758734116E-5	0.01
18	72023716	A	G	18	74356481	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	7.38018093086682E-5	0.0
18	72023716	A	T	18	74356481	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	2.70457223581663E-4	0.01
18	72023717	G	A	18	74356482	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	1.60527798456757E-5	0.0
18	72023717	G	C	18	74356482	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	1.60527798456757E-5	0.0
18	72023717	G	T	18	74356482	y	y	UTR3	C18orf63	.	.	UTR3	ENSG00000206043	.	.	1.06301869081793E-5	0.0
18	72103953	A	C	18	74436718	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon4:c.T1043G:p.V348G;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon3:c.T146G:p.V49G;ENSG00000187773:ENST00000343998:exon4:c.T1043G:p.V348G;	0.225739808613945	0.492
18	72103953	A	G	18	74436718	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon4:c.T1043C:p.V348A;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon3:c.T146C:p.V49A;ENSG00000187773:ENST00000343998:exon4:c.T1043C:p.V348A;	0.251975871428372	0.516
18	72103953	A	T	18	74436718	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon4:c.T1043A:p.V348D;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon3:c.T146A:p.V49D;ENSG00000187773:ENST00000343998:exon4:c.T1043A:p.V348D;	0.181511386766857	0.478
18	72103954	C	A	18	74436719	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon4:c.G1042T:p.V348F;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon3:c.G145T:p.V49F;ENSG00000187773:ENST00000343998:exon4:c.G1042T:p.V348F;	0.997841273915343	0.814
18	72103954	C	G	18	74436719	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon4:c.G1042C:p.V348L;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon3:c.G145C:p.V49L;ENSG00000187773:ENST00000343998:exon4:c.G1042C:p.V348L;	0.997789117754844	0.882
18	72103954	C	T	18	74436719	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon4:c.G1042A:p.V348I;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon3:c.G145A:p.V49I;ENSG00000187773:ENST00000343998:exon4:c.G1042A:p.V348I;	0.996502433378748	0.73
18	72103955	C	A	18	74436720	y	y	splicing	FAM69C(NM_001044369:exon5:c.1042-1G>T)	.	.	splicing	ENSG00000187773(ENST00000400291:exon4:c.145-1G>T;ENST00000343998:exon5:c.1042-1G>T)	.	.	0.999986675681007	0.934
18	72103955	C	G	18	74436720	y	y	splicing	FAM69C(NM_001044369:exon5:c.1042-1G>C)	.	.	splicing	ENSG00000187773(ENST00000400291:exon4:c.145-1G>C;ENST00000343998:exon5:c.1042-1G>C)	.	.	0.999986675681007	0.934
18	72103955	C	T	18	74436720	y	y	splicing	FAM69C(NM_001044369:exon5:c.1042-1G>A)	.	.	splicing	ENSG00000187773(ENST00000400291:exon4:c.145-1G>A;ENST00000343998:exon5:c.1042-1G>A)	.	.	0.999986675681007	0.934
18	72103956	T	A	18	74436721	y	y	splicing	FAM69C(NM_001044369:exon5:c.1042-2A>T)	.	.	splicing	ENSG00000187773(ENST00000400291:exon4:c.145-2A>T;ENST00000343998:exon5:c.1042-2A>T)	.	.	0.999981808176352	0.92
18	72103956	T	C	18	74436721	y	y	splicing	FAM69C(NM_001044369:exon5:c.1042-2A>G)	.	.	splicing	ENSG00000187773(ENST00000400291:exon4:c.145-2A>G;ENST00000343998:exon5:c.1042-2A>G)	.	.	0.999981808176352	0.92
18	72103956	T	G	18	74436721	y	y	splicing	FAM69C(NM_001044369:exon5:c.1042-2A>C)	.	.	splicing	ENSG00000187773(ENST00000400291:exon4:c.145-2A>C;ENST00000343998:exon5:c.1042-2A>C)	.	.	0.999981808176352	0.92
18	72103957	G	A	18	74436722	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.0019060897251354	0.138
18	72103957	G	C	18	74436722	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999701050849332	0.822
18	72103957	G	T	18	74436722	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.125529246779748	0.444
18	72103958	A	C	18	74436723	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.41495740201996E-5	0.018
18	72103958	A	G	18	74436723	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.81424221320509E-5	0.02
18	72103958	A	T	18	74436723	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.98601831656899E-5	0.026
18	72103959	G	A	18	74436724	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.93715029744645E-5	0.002
18	72103959	G	C	18	74436724	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00102664744176285	0.258
18	72103959	G	T	18	74436724	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	8.95365458768791E-4	0.086
18	72103960	G	A	18	74436725	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00166215673438969	0.052
18	72103960	G	C	18	74436725	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00920837882206197	0.236
18	72103960	G	T	18	74436725	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.0153639522900957	0.242
18	72103961	G	A	18	74436726	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.14560675152844E-4	0.01
18	72103961	G	C	18	74436726	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00128898381148345	0.218
18	72103961	G	T	18	74436726	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00264943409751171	0.188
18	72103962	A	C	18	74436727	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.28259231877377E-4	0.046
18	72103962	A	G	18	74436727	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.88683373944477E-4	0.02
18	72103962	A	T	18	74436727	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.17681983267243E-4	0.052
18	72103963	A	C	18	74436728	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.410502318115E-4	0.056
18	72103963	A	G	18	74436728	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.59568667848434E-5	0.006
18	72103963	A	T	18	74436728	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.00473557063912E-4	0.064
18	72103964	A	C	18	74436729	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.79123387768806E-4	0.078
18	72103964	A	G	18	74436729	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.38924437704121E-4	0.01
18	72103964	A	T	18	74436729	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.87874604557794E-4	0.068
18	72103965	G	A	18	74436730	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.16297086441893E-4	0.008
18	72103965	G	C	18	74436730	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.36806049186274E-4	0.014
18	72103965	G	T	18	74436730	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.05753932332516E-4	0.054
18	72103966	A	C	18	74436731	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.2593986399965E-5	0.018
18	72103966	A	G	18	74436731	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	4.80379242672906E-5	0.0
18	72103966	A	T	18	74436731	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.02640640032109E-4	0.036
18	72109179	T	A	18	74441944	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	9.09579474250486E-6	0.0
18	72109179	T	C	18	74441944	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	9.09579474250486E-6	0.0
18	72109179	T	G	18	74441944	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	9.09579474250486E-6	0.0
18	72109180	C	A	18	74441945	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.1090379947797E-5	0.004
18	72109180	C	G	18	74441945	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.64179267191333E-5	0.0
18	72109180	C	T	18	74441945	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.1090379947797E-5	0.0
18	72109181	T	A	18	74441946	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	8.70235217200168E-5	0.014
18	72109181	T	C	18	74441946	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.59936798096664E-5	0.0
18	72109181	T	G	18	74441946	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.21297353107161E-4	0.024
18	72109182	C	A	18	74441947	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.747094596325611	0.53
18	72109182	C	G	18	74441947	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.853802864636251	0.548
18	72109182	C	T	18	74441947	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.667813252288566	0.556
18	72109183	A	C	18	74441948	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.95255511817023E-5	0.0
18	72109183	A	G	18	74441948	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.35718083887537E-5	0.014
18	72109183	A	T	18	74441948	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.0825705193807E-5	0.018
18	72109184	T	A	18	74441949	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.552990982444625	0.344
18	72109184	T	C	18	74441949	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.0444427095609808	0.404
18	72109184	T	G	18	74441949	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.548745088426437	0.306
18	72109185	A	C	18	74441950	y	y	splicing	FAM69C(NM_001044369:exon4:c.1041+2T>G)	.	.	splicing	ENSG00000187773(ENST00000400291:exon3:c.144+2T>G;ENST00000343998:exon4:c.1041+2T>G)	.	.	0.999966203349492	0.944
18	72109185	A	G	18	74441950	y	y	splicing	FAM69C(NM_001044369:exon4:c.1041+2T>C)	.	.	splicing	ENSG00000187773(ENST00000400291:exon3:c.144+2T>C;ENST00000343998:exon4:c.1041+2T>C)	.	.	0.963948796191809	0.652
18	72109185	A	T	18	74441950	y	y	splicing	FAM69C(NM_001044369:exon4:c.1041+2T>A)	.	.	splicing	ENSG00000187773(ENST00000400291:exon3:c.144+2T>A;ENST00000343998:exon4:c.1041+2T>A)	.	.	0.999966203349492	0.94
18	72109186	C	A	18	74441951	y	y	splicing	FAM69C(NM_001044369:exon4:c.1041+1G>T)	.	.	splicing	ENSG00000187773(ENST00000400291:exon3:c.144+1G>T;ENST00000343998:exon4:c.1041+1G>T)	.	.	0.999915710762489	0.938
18	72109186	C	G	18	74441951	y	y	splicing	FAM69C(NM_001044369:exon4:c.1041+1G>C)	.	.	splicing	ENSG00000187773(ENST00000400291:exon3:c.144+1G>C;ENST00000343998:exon4:c.1041+1G>C)	.	.	0.999915710762489	0.938
18	72109186	C	T	18	74441951	y	y	splicing	FAM69C(NM_001044369:exon4:c.1041+1G>A)	.	.	splicing	ENSG00000187773(ENST00000400291:exon3:c.144+1G>A;ENST00000343998:exon4:c.1041+1G>A)	.	.	0.999915710762489	0.936
18	72109187	C	A	18	74441952	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.G1041T:p.Q347H;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon2:c.G144T:p.Q48H;ENSG00000187773:ENST00000343998:exon3:c.G1041T:p.Q347H;	0.999642121533508	0.946
18	72109187	C	G	18	74441952	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.G1041C:p.Q347H;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon2:c.G144C:p.Q48H;ENSG00000187773:ENST00000343998:exon3:c.G1041C:p.Q347H;	0.999919852383001	0.928
18	72109187	C	T	18	74441952	y	y	exonic	FAM69C	synonymous SNV	FAM69C:NM_001044369:exon3:c.G1041A:p.Q347Q;	exonic	ENSG00000187773	synonymous SNV	ENSG00000187773:ENST00000400291:exon2:c.G144A:p.Q48Q;ENSG00000187773:ENST00000343998:exon3:c.G1041A:p.Q347Q;	0.998647582224422	0.918
18	72109188	T	A	18	74441953	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.A1040T:p.Q347L;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon2:c.A143T:p.Q48L;ENSG00000187773:ENST00000343998:exon3:c.A1040T:p.Q347L;	0.999783587032188	0.998
18	72109188	T	C	18	74441953	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.A1040G:p.Q347R;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon2:c.A143G:p.Q48R;ENSG00000187773:ENST00000343998:exon3:c.A1040G:p.Q347R;	0.999783533032107	1.0
18	72109188	T	G	18	74441953	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.A1040C:p.Q347P;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon2:c.A143C:p.Q48P;ENSG00000187773:ENST00000343998:exon3:c.A1040C:p.Q347P;	0.999705558164571	0.992
18	72109189	G	A	18	74441954	y	y	exonic	FAM69C	stopgain SNV	FAM69C:NM_001044369:exon3:c.C1039T:p.Q347X;	exonic	ENSG00000187773	stopgain SNV	ENSG00000187773:ENST00000400291:exon2:c.C142T:p.Q48X;ENSG00000187773:ENST00000343998:exon3:c.C1039T:p.Q347X;	0.997663746615848	0.944
18	72109189	G	C	18	74441954	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.C1039G:p.Q347E;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon2:c.C142G:p.Q48E;ENSG00000187773:ENST00000343998:exon3:c.C1039G:p.Q347E;	0.911966741660726	0.652
18	72109189	G	T	18	74441954	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.C1039A:p.Q347K;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000400291:exon2:c.C142A:p.Q48K;ENSG00000187773:ENST00000343998:exon3:c.C1039A:p.Q347K;	0.945847796814906	0.778
18	72109350	A	C	18	74442115	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.T878G:p.V293G;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon3:c.T878G:p.V293G;	0.378282342104977	0.614
18	72109350	A	G	18	74442115	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.T878C:p.V293A;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon3:c.T878C:p.V293A;	0.378282342104977	0.608
18	72109350	A	T	18	74442115	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.T878A:p.V293E;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon3:c.T878A:p.V293E;	0.679695973934538	0.592
18	72109351	C	A	18	74442116	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.G877T:p.V293L;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon3:c.G877T:p.V293L;	0.999519249973219	0.986
18	72109351	C	G	18	74442116	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.G877C:p.V293L;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon3:c.G877C:p.V293L;	0.999232579260799	0.964
18	72109351	C	T	18	74442116	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon3:c.G877A:p.V293M;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon3:c.G877A:p.V293M;	0.998899107196844	0.908
18	72109352	C	A	18	74442117	y	y	splicing	FAM69C(NM_001044369:exon4:c.877-1G>T)	.	.	splicing	ENSG00000187773(ENST00000343998:exon4:c.877-1G>T)	.	.	0.999989263107695	0.934
18	72109352	C	G	18	74442117	y	y	splicing	FAM69C(NM_001044369:exon4:c.877-1G>C)	.	.	splicing	ENSG00000187773(ENST00000343998:exon4:c.877-1G>C)	.	.	0.999989263107695	0.934
18	72109352	C	T	18	74442117	y	y	splicing	FAM69C(NM_001044369:exon4:c.877-1G>A)	.	.	splicing	ENSG00000187773(ENST00000343998:exon4:c.877-1G>A)	.	.	0.999989263107695	0.934
18	72109353	T	A	18	74442118	y	y	splicing	FAM69C(NM_001044369:exon4:c.877-2A>T)	.	.	splicing	ENSG00000187773(ENST00000343998:exon4:c.877-2A>T)	.	.	0.999988247793601	0.928
18	72109353	T	C	18	74442118	y	y	splicing	FAM69C(NM_001044369:exon4:c.877-2A>G)	.	.	splicing	ENSG00000187773(ENST00000343998:exon4:c.877-2A>G)	.	.	0.999988247793601	0.928
18	72109353	T	G	18	74442118	y	y	splicing	FAM69C(NM_001044369:exon4:c.877-2A>C)	.	.	splicing	ENSG00000187773(ENST00000343998:exon4:c.877-2A>C)	.	.	0.999988247793601	0.928
18	72109354	G	A	18	74442119	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00462506399613642	0.052
18	72109354	G	C	18	74442119	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999810154446671	0.934
18	72109354	G	T	18	74442119	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.968556559127277	0.678
18	72109355	T	A	18	74442120	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.70364945698447E-5	0.0
18	72109355	T	C	18	74442120	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	4.88597605422245E-5	0.002
18	72109355	T	G	18	74442120	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	4.43153972484189E-5	0.002
18	72109356	A	C	18	74442121	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.695048221664969	0.606
18	72109356	A	G	18	74442121	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.44186167597223E-4	0.038
18	72109356	A	T	18	74442121	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.540413927508954	0.606
18	72109357	A	C	18	74442122	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999792777323159	0.936
18	72109357	A	G	18	74442122	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.77234011632803E-4	0.006
18	72109357	A	T	18	74442122	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.572596900403533	0.578
18	72109358	T	A	18	74442123	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	9.73532983953794E-5	0.01
18	72109358	T	C	18	74442123	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	9.73531026393566E-5	0.002
18	72109358	T	G	18	74442123	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.21546427996092E-5	0.012
18	72109359	C	A	18	74442124	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.44650677974201E-4	0.022
18	72109359	C	G	18	74442124	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.44650677974201E-4	0.014
18	72109359	C	T	18	74442124	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.04884802151309E-4	0.018
18	72109360	A	C	18	74442125	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.0223474477758066	0.27
18	72109360	A	G	18	74442125	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	4.61382211489977E-4	0.028
18	72109360	A	T	18	74442125	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999554875144394	0.904
18	72109361	A	C	18	74442126	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.172002268905986	0.57
18	72109361	A	G	18	74442126	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.86876208029024E-4	0.008
18	72109361	A	T	18	74442126	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.183801629757399	0.564
18	72109362	A	C	18	74442127	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.109445313189401	0.452
18	72109362	A	G	18	74442127	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00125010120594169	0.05
18	72109362	A	T	18	74442127	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.147691745132411	0.44
18	72109363	A	C	18	74442128	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00716478681510858	0.11
18	72109363	A	G	18	74442128	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.10343008980936E-4	0.004
18	72109363	A	T	18	74442128	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.0064299064945356	0.106
18	72113833	C	A	18	74446598	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.10100967376927E-4	0.0
18	72113833	C	G	18	74446598	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.10100967376927E-4	0.0
18	72113833	C	T	18	74446598	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.30674446082616E-5	0.0
18	72113834	C	A	18	74446599	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.63101417752693E-5	0.004
18	72113834	C	G	18	74446599	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.64833034090122E-5	0.002
18	72113834	C	T	18	74446599	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.05968704905275E-4	0.0
18	72113835	A	C	18	74446600	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.222067887091554	0.476
18	72113835	A	G	18	74446600	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.19247038709119	0.432
18	72113835	A	T	18	74446600	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.102236764488606	0.372
18	72113836	C	A	18	74446601	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999982067917131	1.0
18	72113836	C	G	18	74446601	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999982067917131	0.984
18	72113836	C	T	18	74446601	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999972511134408	1.0
18	72113837	T	A	18	74446602	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.982041526027181	0.722
18	72113837	T	C	18	74446602	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.991663437876588	0.838
18	72113837	T	G	18	74446602	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.935312596252179	0.544
18	72113838	T	A	18	74446603	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999667802558778	0.914
18	72113838	T	C	18	74446603	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00141871469425431	0.124
18	72113838	T	G	18	74446603	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999667037521708	0.888
18	72113839	A	C	18	74446604	y	y	splicing	FAM69C(NM_001044369:exon3:c.876+2T>G)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.876+2T>G)	.	.	0.999993519952936	0.926
18	72113839	A	G	18	74446604	y	y	splicing	FAM69C(NM_001044369:exon3:c.876+2T>C)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.876+2T>C)	.	.	0.992791655592201	0.594
18	72113839	A	T	18	74446604	y	y	splicing	FAM69C(NM_001044369:exon3:c.876+2T>A)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.876+2T>A)	.	.	0.999993519952936	0.928
18	72113840	C	A	18	74446605	y	y	splicing	FAM69C(NM_001044369:exon3:c.876+1G>T)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.876+1G>T)	.	.	0.999988247793601	0.93
18	72113840	C	G	18	74446605	y	y	splicing	FAM69C(NM_001044369:exon3:c.876+1G>C)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.876+1G>C)	.	.	0.999988247793601	0.93
18	72113840	C	T	18	74446605	y	y	splicing	FAM69C(NM_001044369:exon3:c.876+1G>A)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.876+1G>A)	.	.	0.999988247793601	0.93
18	72113841	T	A	18	74446606	y	y	exonic	FAM69C	synonymous SNV	FAM69C:NM_001044369:exon2:c.A876T:p.T292T;	exonic	ENSG00000187773	synonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.A876T:p.T292T;	7.83196036064684E-4	0.07
18	72113841	T	C	18	74446606	y	y	exonic	FAM69C	synonymous SNV	FAM69C:NM_001044369:exon2:c.A876G:p.T292T;	exonic	ENSG00000187773	synonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.A876G:p.T292T;	9.13294850100994E-4	0.058
18	72113841	T	G	18	74446606	y	y	exonic	FAM69C	synonymous SNV	FAM69C:NM_001044369:exon2:c.A876C:p.T292T;	exonic	ENSG00000187773	synonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.A876C:p.T292T;	2.03040752739187E-4	0.006
18	72113842	G	A	18	74446607	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.C875T:p.T292I;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.C875T:p.T292I;	0.922770421889193	0.794
18	72113842	G	C	18	74446607	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.C875G:p.T292R;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.C875G:p.T292R;	0.941068651572908	0.834
18	72113842	G	T	18	74446607	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.C875A:p.T292K;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.C875A:p.T292K;	0.849858521473159	0.662
18	72113843	T	A	18	74446608	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.A874T:p.T292S;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.A874T:p.T292S;	0.809822798241953	0.52
18	72113843	T	C	18	74446608	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.A874G:p.T292A;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.A874G:p.T292A;	0.281824363792584	0.464
18	72113843	T	G	18	74446608	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.A874C:p.T292P;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.A874C:p.T292P;	0.586901926276912	0.706
18	72114517	C	A	18	74447282	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.G200T:p.C67F;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.G200T:p.C67F;	0.0407607652021886	0.422
18	72114517	C	G	18	74447282	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.G200C:p.C67S;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.G200C:p.C67S;	0.250968184262207	0.472
18	72114517	C	T	18	74447282	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.G200A:p.C67Y;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.G200A:p.C67Y;	0.20209551838431	0.284
18	72114518	A	C	18	74447283	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.T199G:p.C67G;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.T199G:p.C67G;	0.0339151712847638	0.254
18	72114518	A	G	18	74447283	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.T199C:p.C67R;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.T199C:p.C67R;	0.0188215688549585	0.148
18	72114518	A	T	18	74447283	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon2:c.T199A:p.C67S;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon2:c.T199A:p.C67S;	0.0790953238804084	0.454
18	72114519	C	A	18	74447284	y	y	splicing	FAM69C(NM_001044369:exon3:c.199-1G>T)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.199-1G>T)	.	.	0.99998382861657	0.846
18	72114519	C	G	18	74447284	y	y	splicing	FAM69C(NM_001044369:exon3:c.199-1G>C)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.199-1G>C)	.	.	0.99998406902479	0.846
18	72114519	C	T	18	74447284	y	y	splicing	FAM69C(NM_001044369:exon3:c.199-1G>A)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.199-1G>A)	.	.	0.99998382861657	0.864
18	72114520	T	A	18	74447285	y	y	splicing	FAM69C(NM_001044369:exon3:c.199-2A>T)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.199-2A>T)	.	.	0.99998382861657	0.848
18	72114520	T	C	18	74447285	y	y	splicing	FAM69C(NM_001044369:exon3:c.199-2A>G)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.199-2A>G)	.	.	0.999980516178445	0.834
18	72114520	T	G	18	74447285	y	y	splicing	FAM69C(NM_001044369:exon3:c.199-2A>C)	.	.	splicing	ENSG00000187773(ENST00000343998:exon3:c.199-2A>C)	.	.	0.999980516178445	0.838
18	72114521	G	A	18	74447286	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00704381680500765	0.054
18	72114521	G	C	18	74447286	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999954377279566	0.962
18	72114521	G	T	18	74447286	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.961910816395808	0.658
18	72114522	G	A	18	74447287	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.87293635339681E-5	0.002
18	72114522	G	C	18	74447287	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.99220054193457E-5	0.0
18	72114522	G	T	18	74447287	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.86942283682311E-5	0.0
18	72114523	A	C	18	74447288	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00109601962374193	0.192
18	72114523	A	G	18	74447288	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.62749518515598E-5	0.018
18	72114523	A	T	18	74447288	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	9.29923543037494E-4	0.196
18	72114524	A	C	18	74447289	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00808058909546522	0.19
18	72114524	A	G	18	74447289	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.37134187331952E-4	0.03
18	72114524	A	T	18	74447289	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00855803054091519	0.164
18	72114525	G	A	18	74447290	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.94982377361724E-5	0.008
18	72114525	G	C	18	74447290	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	8.49206300941689E-5	0.028
18	72114525	G	T	18	74447290	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.09407875681059E-4	0.132
18	72114526	G	A	18	74447291	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.8744798007973E-5	0.002
18	72114526	G	C	18	74447291	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.39492834236719E-5	0.054
18	72114526	G	T	18	74447291	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.83353694202895E-4	0.066
18	72114527	A	C	18	74447292	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	9.54618001019101E-4	0.098
18	72114527	A	G	18	74447292	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.94383002554457E-4	0.036
18	72114527	A	T	18	74447292	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.82793040555763E-4	0.114
18	72114528	A	C	18	74447293	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.0053130885968008	0.252
18	72114528	A	G	18	74447293	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.4157201816365E-4	0.04
18	72114528	A	T	18	74447293	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.0371143304249082	0.224
18	72114529	G	A	18	74447294	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	1.50328556227995E-5	0.002
18	72114529	G	C	18	74447294	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.49430547271581E-5	0.074
18	72114529	G	T	18	74447294	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.51435614126973E-5	0.01
18	72114530	G	A	18	74447295	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.54697993738612E-5	0.006
18	72114530	G	C	18	74447295	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.69438751543163E-4	0.11
18	72114530	G	T	18	74447295	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	4.40525446552743E-4	0.1
18	72124289	G	A	18	74457054	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.82273205759028E-4	0.0
18	72124289	G	C	18	74457054	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	4.26249555353193E-4	0.056
18	72124289	G	T	18	74457054	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	4.68985448666646E-4	0.088
18	72124290	G	A	18	74457055	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.00155733812070958	0.11
18	72124290	G	C	18	74457055	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.83951822003886E-4	0.096
18	72124290	G	T	18	74457055	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.02333709782171E-4	0.0
18	72124291	A	C	18	74457056	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.0612382968982876	0.336
18	72124291	A	G	18	74457056	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.224505152749018	0.338
18	72124291	A	T	18	74457056	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.372890097667631	0.366
18	72124292	C	A	18	74457057	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.99999119355067	0.95
18	72124292	C	G	18	74457057	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999977211960136	0.988
18	72124292	C	T	18	74457057	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.999973001197498	0.982
18	72124293	C	A	18	74457058	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.75662509701736E-5	0.006
18	72124293	C	G	18	74457058	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.22846070303978E-5	0.014
18	72124293	C	T	18	74457058	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.1335128119832E-5	0.05
18	72124294	T	A	18	74457059	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.977714969988241	0.72
18	72124294	T	C	18	74457059	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.159148904949093	0.602
18	72124294	T	G	18	74457059	y	y	intronic	FAM69C	.	.	intronic	ENSG00000187773	.	.	0.990281891452221	0.792
18	72124295	A	C	18	74457060	y	y	splicing	FAM69C(NM_001044369:exon2:c.198+2T>G)	.	.	splicing	ENSG00000187773(ENST00000343998:exon2:c.198+2T>G)	.	.	0.999949833242292	0.906
18	72124295	A	G	18	74457060	y	y	splicing	FAM69C(NM_001044369:exon2:c.198+2T>C)	.	.	splicing	ENSG00000187773(ENST00000343998:exon2:c.198+2T>C)	.	.	0.939141769882204	0.576
18	72124295	A	T	18	74457060	y	y	splicing	FAM69C(NM_001044369:exon2:c.198+2T>A)	.	.	splicing	ENSG00000187773(ENST00000343998:exon2:c.198+2T>A)	.	.	0.999949833242292	0.904
18	72124296	C	A	18	74457061	y	y	splicing	FAM69C(NM_001044369:exon2:c.198+1G>T)	.	.	splicing	ENSG00000187773(ENST00000343998:exon2:c.198+1G>T)	.	.	0.999967001206676	0.924
18	72124296	C	G	18	74457061	y	y	splicing	FAM69C(NM_001044369:exon2:c.198+1G>C)	.	.	splicing	ENSG00000187773(ENST00000343998:exon2:c.198+1G>C)	.	.	0.999967001206676	0.924
18	72124296	C	T	18	74457061	y	y	splicing	FAM69C(NM_001044369:exon2:c.198+1G>A)	.	.	splicing	ENSG00000187773(ENST00000343998:exon2:c.198+1G>A)	.	.	0.999987212236324	0.924
18	72124297	C	A	18	74457062	y	y	exonic	FAM69C	synonymous SNV	FAM69C:NM_001044369:exon1:c.G198T:p.L66L;	exonic	ENSG00000187773	synonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.G198T:p.L66L;	0.999695771515451	0.974
18	72124297	C	G	18	74457062	y	y	exonic	FAM69C	synonymous SNV	FAM69C:NM_001044369:exon1:c.G198C:p.L66L;	exonic	ENSG00000187773	synonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.G198C:p.L66L;	0.999842991394854	0.934
18	72124297	C	T	18	74457062	y	y	exonic	FAM69C	synonymous SNV	FAM69C:NM_001044369:exon1:c.G198A:p.L66L;	exonic	ENSG00000187773	synonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.G198A:p.L66L;	0.999187563991265	0.968
18	72124298	A	C	18	74457063	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon1:c.T197G:p.L66R;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.T197G:p.L66R;	0.00499599371396876	0.188
18	72124298	A	G	18	74457063	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon1:c.T197C:p.L66P;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.T197C:p.L66P;	0.00437130724964696	0.262
18	72124298	A	T	18	74457063	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon1:c.T197A:p.L66Q;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.T197A:p.L66Q;	0.00799723231238006	0.216
18	72124299	G	A	18	74457064	y	y	exonic	FAM69C	synonymous SNV	FAM69C:NM_001044369:exon1:c.C196T:p.L66L;	exonic	ENSG00000187773	synonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.C196T:p.L66L;	0.855613413885464	0.622
18	72124299	G	C	18	74457064	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon1:c.C196G:p.L66V;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.C196G:p.L66V;	0.00865626437248009	0.108
18	72124299	G	T	18	74457064	y	y	exonic	FAM69C	nonsynonymous SNV	FAM69C:NM_001044369:exon1:c.C196A:p.L66M;	exonic	ENSG00000187773	nonsynonymous SNV	ENSG00000187773:ENST00000343998:exon1:c.C196A:p.L66M;	0.0458313267545114	0.358
18	72125000	A	C	18	74457765	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.16694999061511E-5	0.012
18	72125000	A	G	18	74457765	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.16694999061511E-5	0.012
18	72125000	A	T	18	74457765	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	6.16694999061511E-5	0.0
18	72125001	G	A	18	74457766	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.50378308532496E-5	0.0
18	72125001	G	C	18	74457766	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.3820400020461E-5	0.0
18	72125001	G	T	18	74457766	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.3820400020461E-5	0.0
18	72125002	T	A	18	74457767	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.02060739327312E-4	0.006
18	72125002	T	C	18	74457767	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.42185201671229E-4	0.006
18	72125002	T	G	18	74457767	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	2.42185201671229E-4	0.006
18	72125003	C	A	18	74457768	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.88900058043251E-5	0.0
18	72125003	C	G	18	74457768	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.88900058043251E-5	0.0
18	72125003	C	T	18	74457768	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	8.06498087086131E-5	0.0
18	72125004	T	A	18	74457769	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.22705502918077E-5	0.0
18	72125004	T	C	18	74457769	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.86534643336602E-5	0.0
18	72125004	T	G	18	74457769	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	5.86534643336602E-5	0.0
18	72125005	C	A	18	74457770	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.92337711406789E-5	0.002
18	72125005	C	G	18	74457770	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	3.92337711406789E-5	0.0
18	72125005	C	T	18	74457770	n	y	upstream	FAM69C	.	.	intronic	ENSG00000187773	.	.	7.1309087537924E-5	0.0
18	72125006	A	C	18	74457771	n	y	upstream	FAM69C	.	.	splicing	ENSG00000187773	.	.	1.29398457523132E-5	0.0
18	72125006	A	G	18	74457771	n	y	upstream	FAM69C	.	.	splicing	ENSG00000187773	.	.	1.29398457523132E-5	0.0
18	72125006	A	T	18	74457771	n	y	upstream	FAM69C	.	.	splicing	ENSG00000187773	.	.	1.29398457523132E-5	0.0
18	72125007	C	A	18	74457772	n	y	upstream	FAM69C	.	.	splicing	ENSG00000187773	.	.	8.23336203135875E-4	0.028
18	72125007	C	G	18	74457772	n	y	upstream	FAM69C	.	.	splicing	ENSG00000187773	.	.	6.94545935591282E-4	0.006
18	72125007	C	T	18	74457772	n	y	upstream	FAM69C	.	.	splicing	ENSG00000187773	.	.	8.23336203135875E-4	0.008
18	72125008	C	A	18	74457773	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	3.88900058043251E-5	0.0
18	72125008	C	G	18	74457773	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	3.88900058043251E-5	0.0
18	72125008	C	T	18	74457773	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	8.06498087086131E-5	0.0
18	72125009	C	A	18	74457774	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	1.92772598195944E-5	0.0
18	72125009	C	G	18	74457774	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	1.92772598195944E-5	0.0
18	72125009	C	T	18	74457774	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	1.92772598195944E-5	0.0
18	72125010	C	A	18	74457775	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	6.8092833925622E-5	0.004
18	72125010	C	G	18	74457775	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	6.8092833925622E-5	0.002
18	72125010	C	T	18	74457775	n	y	upstream	FAM69C	.	.	UTR5	ENSG00000187773	.	.	3.74641562475641E-5	0.002
18	72163664	C	A	18	74496429	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000580672:exon1:c.C148A:p.Q50K;	6.27465203215888E-4	0.022
18	72163664	C	G	18	74496429	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000580672:exon1:c.C148G:p.Q50E;	6.58261312195785E-4	0.068
18	72163664	C	T	18	74496429	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000580672:exon1:c.C148T:p.Q50X;	0.745910299286801	0.644
18	72163665	A	C	18	74496430	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000580672:exon1:c.A149C:p.Q50P;	0.0343025775541318	0.43
18	72163665	A	G	18	74496430	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000580672:exon1:c.A149G:p.Q50R;	0.424331766614751	0.422
18	72163665	A	T	18	74496430	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000580672:exon1:c.A149T:p.Q50L;	0.332932320783184	0.43
18	72163666	G	A	18	74496431	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000580672:exon1:c.G150A:p.Q50Q;	0.999127041492852	0.918
18	72163666	G	C	18	74496431	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000580672:exon1:c.G150C:p.Q50H;	0.999948854702843	0.912
18	72163666	G	T	18	74496431	y	y	UTR5	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000580672:exon1:c.G150T:p.Q50H;	0.99990315466678	0.96
18	72163667	G	A	18	74496432	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313(ENST00000580672:exon1:c.150+1G>A)	.	.	0.998506164081432	0.398
18	72163667	G	C	18	74496432	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313(ENST00000580672:exon1:c.150+1G>C)	.	.	0.996698955433648	0.41
18	72163667	G	T	18	74496432	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313(ENST00000580672:exon1:c.150+1G>T)	.	.	0.996698955433648	0.4
18	72163668	T	A	18	74496433	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313(ENST00000580672:exon1:c.150+2T>A)	.	.	0.99986575855458	0.544
18	72163668	T	C	18	74496433	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313(ENST00000580672:exon1:c.150+2T>C)	.	.	0.99783939855835	0.546
18	72163668	T	G	18	74496433	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313(ENST00000580672:exon1:c.150+2T>G)	.	.	0.99986575855458	0.536
18	72163669	G	A	18	74496434	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.15220585055816E-5	0.044
18	72163669	G	C	18	74496434	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00129598630949896	0.116
18	72163669	G	T	18	74496434	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.33125562639375E-4	0.08
18	72163670	G	A	18	74496435	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00129711580673336	0.104
18	72163670	G	C	18	74496435	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.38605771438652E-4	0.032
18	72163670	G	T	18	74496435	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00247404650311843	0.044
18	72163671	G	A	18	74496436	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.978306427528594	0.542
18	72163671	G	C	18	74496436	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.97406136838333	0.61
18	72163671	G	T	18	74496436	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.950220800748387	0.526
18	72163672	T	A	18	74496437	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00470955732372997	0.058
18	72163672	T	C	18	74496437	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.002929362392028	0.062
18	72163672	T	G	18	74496437	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00154042024015924	0.05
18	72163673	C	A	18	74496438	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.23818099585394E-4	0.01
18	72163673	C	G	18	74496438	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.71023843551899E-4	0.008
18	72163673	C	T	18	74496438	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.4055783911311E-4	0.026
18	72163674	T	A	18	74496439	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00102726428335625	0.008
18	72163674	T	C	18	74496439	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00147999417578013	0.012
18	72163674	T	G	18	74496439	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.0240492946545E-4	0.01
18	72164732	C	A	18	74497497	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.41863113010999E-4	0.004
18	72164732	C	G	18	74497497	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.41863113010999E-4	0.004
18	72164732	C	T	18	74497497	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.15936132158374E-4	0.006
18	72164733	T	A	18	74497498	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.09960321947569E-4	0.002
18	72164733	T	C	18	74497498	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.6209997567341E-5	0.002
18	72164733	T	G	18	74497498	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.6209997567341E-5	0.002
18	72164734	C	A	18	74497499	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.72841159385093E-5	0.0
18	72164734	C	G	18	74497499	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.72841159385093E-5	0.0
18	72164734	C	T	18	74497499	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.72841159385093E-5	0.0
18	72164735	C	A	18	74497500	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.30079300202998E-4	0.024
18	72164735	C	G	18	74497500	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.30079300202998E-4	0.024
18	72164735	C	T	18	74497500	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.84302057246981E-4	0.024
18	72164736	C	A	18	74497501	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.23796314652912E-4	0.024
18	72164736	C	G	18	74497501	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.23796314652912E-4	0.026
18	72164736	C	T	18	74497501	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.23796314652912E-4	0.024
18	72164737	T	A	18	74497502	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.33930376896499E-5	0.004
18	72164737	T	C	18	74497502	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.33930376896499E-5	0.004
18	72164737	T	G	18	74497502	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.33930376896499E-5	0.004
18	72164738	T	A	18	74497503	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.33930376896499E-5	0.004
18	72164738	T	C	18	74497503	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.33930376896499E-5	0.004
18	72164738	T	G	18	74497503	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.33930376896499E-5	0.004
18	72164739	G	A	18	74497504	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.69884688945688E-4	0.012
18	72164739	G	C	18	74497504	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164739	G	T	18	74497504	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164740	C	A	18	74497505	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164740	C	G	18	74497505	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164740	C	T	18	74497505	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.69884688945688E-4	0.012
18	72164741	C	A	18	74497506	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164741	C	G	18	74497506	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.27163650926202E-4	0.036
18	72164741	C	T	18	74497506	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164742	A	C	18	74497507	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	9.33930376896499E-5	0.004
18	72164742	A	G	18	74497507	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	9.33930376896499E-5	0.004
18	72164742	A	T	18	74497507	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	4.25762508039554E-5	0.004
18	72164743	G	A	18	74497508	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.08739841361144E-4	0.008
18	72164743	G	C	18	74497508	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.08739841361144E-4	0.01
18	72164743	G	T	18	74497508	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.08739841361144E-4	0.01
18	72164744	G	A	18	74497509	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.08739841361144E-4	0.012
18	72164744	G	C	18	74497509	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164744	G	T	18	74497509	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.012
18	72164745	C	A	18	74497510	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164745	C	G	18	74497510	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.27163650926202E-4	0.076
18	72164745	C	T	18	74497510	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72164828	T	A	18	74497593	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.006
18	72164828	T	C	18	74497593	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.006
18	72164828	T	G	18	74497593	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.006
18	72164829	G	A	18	74497594	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.47959532904733E-5	0.014
18	72164829	G	C	18	74497594	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.012
18	72164829	G	T	18	74497594	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.47959532904733E-5	0.016
18	72164830	A	C	18	74497595	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.31929338280547E-5	0.0
18	72164830	A	G	18	74497595	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.31929338280547E-5	0.0
18	72164830	A	T	18	74497595	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.89925739660516E-5	0.004
18	72164831	G	A	18	74497596	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	5.47959532904733E-5	0.014
18	72164831	G	C	18	74497596	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	2.30852315876377E-5	0.01
18	72164831	G	T	18	74497596	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	5.47959532904733E-5	0.014
18	72164832	T	A	18	74497597	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.07620641825897E-5	0.0
18	72164832	T	C	18	74497597	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.07620641825897E-5	0.0
18	72164832	T	G	18	74497597	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.07620641825897E-5	0.0
18	72164833	A	C	18	74497598	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.57123356397867E-5	0.01
18	72164833	A	G	18	74497598	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.57123356397867E-5	0.01
18	72164833	A	T	18	74497598	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.27163650926202E-4	0.014
18	72164834	A	C	18	74497599	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.57123356397867E-5	0.01
18	72164834	A	G	18	74497599	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.57123356397867E-5	0.01
18	72164834	A	T	18	74497599	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.27163650926202E-4	0.016
18	72164835	C	A	18	74497600	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.99153316237132E-5	0.002
18	72164835	C	G	18	74497600	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.99153316237132E-5	0.002
18	72164835	C	T	18	74497600	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.99153316237132E-5	0.002
18	72164836	A	C	18	74497601	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.57123356397867E-5	0.01
18	72164836	A	G	18	74497601	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.57123356397867E-5	0.01
18	72164836	A	T	18	74497601	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.57123356397867E-5	0.012
18	72164837	C	A	18	74497602	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.59660858139777E-5	0.0
18	72164837	C	G	18	74497602	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.59660858139777E-5	0.0
18	72164837	C	T	18	74497602	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.59660858139777E-5	0.0
18	72164838	G	A	18	74497603	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164838	G	C	18	74497603	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.024
18	72164838	G	T	18	74497603	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164959	G	A	18	74497724	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164959	G	C	18	74497724	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.01
18	72164959	G	T	18	74497724	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164960	C	A	18	74497725	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164960	C	G	18	74497725	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.01
18	72164960	C	T	18	74497725	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164961	A	C	18	74497726	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.07620641825897E-5	0.0
18	72164961	A	G	18	74497726	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.07620641825897E-5	0.0
18	72164961	A	T	18	74497726	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.07620641825897E-5	0.0
18	72164962	G	A	18	74497727	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164962	G	C	18	74497727	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164962	G	T	18	74497727	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	2.30852315876377E-5	0.008
18	72164963	T	A	18	74497728	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	2.27163650926202E-4	0.016
18	72164963	T	C	18	74497728	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	9.57123356397867E-5	0.01
18	72164963	T	G	18	74497728	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	9.57123356397867E-5	0.008
18	72164964	G	A	18	74497729	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.30852315876377E-5	0.01
18	72164964	G	C	18	74497729	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.49453169148861E-5	0.02
18	72164964	G	T	18	74497729	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.49453169148861E-5	0.01
18	72164965	A	C	18	74497730	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.68284073685752E-5	0.004
18	72164965	A	G	18	74497730	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.68284073685752E-5	0.004
18	72164965	A	T	18	74497730	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.68284073685752E-5	0.004
18	72164966	G	A	18	74497731	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.49453169148861E-5	0.01
18	72164966	G	C	18	74497731	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.49453169148861E-5	0.018
18	72164966	G	T	18	74497731	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.49453169148861E-5	0.02
18	72164967	C	A	18	74497732	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.99153316237132E-5	0.0
18	72164967	C	G	18	74497732	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.99153316237132E-5	0.0
18	72164967	C	T	18	74497732	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.99153316237132E-5	0.0
18	72164968	C	A	18	74497733	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.99153316237132E-5	0.002
18	72164968	C	G	18	74497733	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.99153316237132E-5	0.002
18	72164968	C	T	18	74497733	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.99153316237132E-5	0.002
18	72164969	A	C	18	74497734	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.99153316237132E-5	0.0
18	72164969	A	G	18	74497734	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.99153316237132E-5	0.0
18	72164969	A	T	18	74497734	n	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.07620641825897E-5	0.004
18	72166608	C	A	18	74499373	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.29409940438522E-5	0.0
18	72166608	C	G	18	74499373	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.29409940438522E-5	0.0
18	72166608	C	T	18	74499373	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.29409940438522E-5	0.0
18	72166609	A	C	18	74499374	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.59706358747764E-5	0.004
18	72166609	A	G	18	74499374	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.59706358747764E-5	0.004
18	72166609	A	T	18	74499374	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.59706358747764E-5	0.006
18	72166610	G	A	18	74499375	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.80650664972837E-4	0.0
18	72166610	G	C	18	74499375	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.80650664972837E-4	0.0
18	72166610	G	T	18	74499375	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.80650664972837E-4	0.0
18	72166611	G	A	18	74499376	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	1.80650664972837E-4	0.0
18	72166611	G	C	18	74499376	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	1.80650664972837E-4	0.028
18	72166611	G	T	18	74499376	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	1.80650664972837E-4	0.0
18	72166612	T	A	18	74499377	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.01405895405358E-5	0.006
18	72166612	T	C	18	74499377	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	9.41215694109E-6	0.0
18	72166612	T	G	18	74499377	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	1.01559384236425E-5	0.0
18	72166613	G	A	18	74499378	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.89925739660516E-5	0.006
18	72166613	G	C	18	74499378	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.31929338280547E-5	0.006
18	72166613	G	T	18	74499378	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.89925739660516E-5	0.006
18	72166614	C	A	18	74499379	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.72760553213487E-5	0.028
18	72166614	C	G	18	74499379	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.72760553213487E-5	0.002
18	72166614	C	T	18	74499379	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.27456659313109E-5	0.0
18	72166615	T	A	18	74499380	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.80109675654916E-5	0.0
18	72166615	T	C	18	74499380	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.80109675654916E-5	0.0
18	72166615	T	G	18	74499380	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.80109675654916E-5	0.0
18	72166616	T	A	18	74499381	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.5529151830241E-5	0.004
18	72166616	T	C	18	74499381	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.42544334184685E-5	0.008
18	72166616	T	G	18	74499381	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.42544334184685E-5	0.01
18	72166617	G	A	18	74499382	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.57607375837078E-5	0.01
18	72166617	G	C	18	74499382	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.57607375837078E-5	0.006
18	72166617	G	T	18	74499382	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.57607375837078E-5	0.006
18	72166618	T	A	18	74499383	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.29174331464365E-5	0.072
18	72166618	T	C	18	74499383	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.29174331464365E-5	0.008
18	72166618	T	G	18	74499383	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.29174331464365E-5	0.008
18	72166715	T	A	18	74499480	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.35428655471156E-5	0.002
18	72166715	T	C	18	74499480	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.35428655471156E-5	0.002
18	72166715	T	G	18	74499480	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.35428655471156E-5	0.002
18	72166716	G	A	18	74499481	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.88563338073588E-5	0.006
18	72166716	G	C	18	74499481	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.68952365742707E-5	0.006
18	72166716	G	T	18	74499481	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.88563338073588E-5	0.006
18	72166717	G	A	18	74499482	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.77993525610891E-5	0.0
18	72166717	G	C	18	74499482	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.06619588578661E-5	0.078
18	72166717	G	T	18	74499482	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.77993525610891E-5	0.002
18	72166718	G	A	18	74499483	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	2.45277156108894E-5	0.0
18	72166718	G	C	18	74499483	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	2.45277156108894E-5	0.0
18	72166718	G	T	18	74499483	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	2.45277156108894E-5	0.0
18	72166719	T	A	18	74499484	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.78864525412067E-5	0.0
18	72166719	T	C	18	74499484	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.78864525412067E-5	0.0
18	72166719	T	G	18	74499484	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.78864525412067E-5	0.01
18	72166720	T	A	18	74499485	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.39529611572298E-5	0.002
18	72166720	T	C	18	74499485	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.44782069694124E-5	0.002
18	72166720	T	G	18	74499485	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.44782069694124E-5	0.002
18	72166721	T	A	18	74499486	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.45427510716187E-4	0.004
18	72166721	T	C	18	74499486	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.45427510716187E-4	0.004
18	72166721	T	G	18	74499486	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.45427510716187E-4	0.004
18	72166722	G	A	18	74499487	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.08739841361144E-4	0.006
18	72166722	G	C	18	74499487	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.006
18	72166722	G	T	18	74499487	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.69884688945688E-4	0.01
18	72166723	T	A	18	74499488	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.39457982047225E-5	0.0
18	72166723	T	C	18	74499488	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.27663100932972E-5	0.0
18	72166723	T	G	18	74499488	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.27663100932972E-5	0.0
18	72166724	G	A	18	74499489	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.36106780005268E-5	0.004
18	72166724	G	C	18	74499489	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.36106780005268E-5	0.004
18	72166724	G	T	18	74499489	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.36106780005268E-5	0.004
18	72166725	G	A	18	74499490	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.27456659313109E-5	0.0
18	72166725	G	C	18	74499490	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.27456659313109E-5	0.0
18	72166725	G	T	18	74499490	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.27456659313109E-5	0.0
18	72166939	T	A	18	74499704	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.62965044666173E-5	0.004
18	72166939	T	C	18	74499704	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.59706358747764E-5	0.004
18	72166939	T	G	18	74499704	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.62965044666173E-5	0.004
18	72166940	G	A	18	74499705	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.02642503822698E-5	0.004
18	72166940	G	C	18	74499705	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.02642503822698E-5	0.006
18	72166940	G	T	18	74499705	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.02642503822698E-5	0.006
18	72166941	T	A	18	74499706	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.26007143607885E-5	0.008
18	72166941	T	C	18	74499706	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.26007143607885E-5	0.006
18	72166941	T	G	18	74499706	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.26007143607885E-5	0.006
18	72166942	G	A	18	74499707	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	7.687767965882E-5	0.116
18	72166942	G	C	18	74499707	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	7.687767965882E-5	0.06
18	72166942	G	T	18	74499707	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	7.687767965882E-5	0.064
18	72166943	T	A	18	74499708	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	4.39765988491657E-5	0.006
18	72166943	T	C	18	74499708	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	4.39765988491657E-5	0.008
18	72166943	T	G	18	74499708	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	1.01559384236425E-5	0.004
18	72166944	A	C	18	74499709	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.06651702251777E-5	0.0
18	72166944	A	G	18	74499709	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.06651702251777E-5	0.0
18	72166944	A	T	18	74499709	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.15079680499746E-5	0.0
18	72166945	A	C	18	74499710	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.25524929795369E-5	0.002
18	72166945	A	G	18	74499710	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.25524929795369E-5	0.002
18	72166945	A	T	18	74499710	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.25524929795369E-5	0.002
18	72166946	T	A	18	74499711	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.98377523420214E-5	0.0
18	72166946	T	C	18	74499711	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.98377523420214E-5	0.0
18	72166946	T	G	18	74499711	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.98377523420214E-5	0.0
18	72166947	T	A	18	74499712	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.62500938860321E-5	0.002
18	72166947	T	C	18	74499712	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.62500938860321E-5	0.0
18	72166947	T	G	18	74499712	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.62500938860321E-5	0.0
18	72166948	T	A	18	74499713	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.86764315709017E-5	0.0
18	72166948	T	C	18	74499713	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.86764315709017E-5	0.0
18	72166948	T	G	18	74499713	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.86764315709017E-5	0.0
18	72166949	T	A	18	74499714	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.12431205599309E-4	0.036
18	72166949	T	C	18	74499714	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.60350652795169E-4	0.032
18	72166949	T	G	18	74499714	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.17242429476466E-4	0.04
18	72167105	C	A	18	74499870	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.0233430626274142	0.13
18	72167105	C	G	18	74499870	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.0134687024797442	0.138
18	72167105	C	T	18	74499870	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.01258110681548E-5	0.002
18	72167106	T	A	18	74499871	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.855687069809548	0.754
18	72167106	T	C	18	74499871	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.0113758048509036	0.138
18	72167106	T	G	18	74499871	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.697145076789587	0.632
18	72167107	T	A	18	74499872	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.513084916393796	0.432
18	72167107	T	C	18	74499872	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.13571568307271E-4	0.114
18	72167107	T	G	18	74499872	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.0277926515707145	0.36
18	72167108	T	A	18	74499873	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00631138655971764	0.096
18	72167108	T	C	18	74499873	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.85595873120019E-4	0.03
18	72167108	T	G	18	74499873	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00176938963831187	0.066
18	72167109	C	A	18	74499874	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00233449130236734	0.058
18	72167109	C	G	18	74499874	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.47309050915663E-4	0.006
18	72167109	C	T	18	74499874	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.55662276566741E-4	0.036
18	72167110	T	A	18	74499875	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.99887516995928	0.902
18	72167110	T	C	18	74499875	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.12978745382159E-5	0.004
18	72167110	T	G	18	74499875	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00183103957999859	0.108
18	72167111	G	A	18	74499876	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.984217358874317	0.866
18	72167111	G	C	18	74499876	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.13245572938135E-5	0.01
18	72167111	G	T	18	74499876	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.79129871716731E-6	0.014
18	72167112	G	A	18	74499877	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.844175663177044	0.656
18	72167112	G	C	18	74499877	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.30488998160672E-5	0.0
18	72167112	G	T	18	74499877	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.84338296765512E-5	0.02
18	72167113	G	A	18	74499878	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.17492170430927E-5	0.0
18	72167113	G	C	18	74499878	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.40802167193795E-5	0.002
18	72167113	G	T	18	74499878	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.35869656350159E-5	0.0
18	72167114	C	A	18	74499879	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.714625258880472	0.468
18	72167114	C	G	18	74499879	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.998211970920391	0.872
18	72167114	C	T	18	74499879	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.6068351427448E-4	0.018
18	72167115	A	C	18	74499880	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313	.	.	0.999976402271662	0.692
18	72167115	A	G	18	74499880	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313	.	.	0.999976402271662	0.692
18	72167115	A	T	18	74499880	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313	.	.	0.999976402271662	0.706
18	72167116	G	A	18	74499881	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313	.	.	0.99986575855458	0.452
18	72167116	G	C	18	74499881	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313	.	.	0.99986575855458	0.442
18	72167116	G	T	18	74499881	y	y	splicing	CNDP2	.	.	splicing	ENSG00000133313	.	.	0.99986575855458	0.442
18	72167117	G	A	18	74499882	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00618663488353433	0.132
18	72167117	G	C	18	74499882	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00854661354606271	0.342
18	72167117	G	T	18	74499882	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.234251271675719	0.512
18	72167118	T	A	18	74499883	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.31501993376425E-4	0.03
18	72167118	T	C	18	74499883	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.78495235768116E-5	0.042
18	72167118	T	G	18	74499883	y	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.8491154223108E-4	0.046
18	72167160	C	A	18	74499925	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.1664329175526E-4	0.006
18	72167160	C	G	18	74499925	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.02941432165824E-4	0.004
18	72167160	C	T	18	74499925	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.0012338591716885	0.006
18	72167161	T	A	18	74499926	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00738506323474107	0.04
18	72167161	T	C	18	74499926	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00430955476585136	0.042
18	72167161	T	G	18	74499926	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00430955476585136	0.042
18	72167162	T	A	18	74499927	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.00145598400866353	0.004
18	72167162	T	C	18	74499927	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.0011546168173277	0.004
18	72167162	T	G	18	74499927	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	0.0011546168173277	0.004
18	72167163	C	A	18	74499928	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.49520886589696E-4	0.006
18	72167163	C	G	18	74499928	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.65083225420418E-4	0.0
18	72167163	C	T	18	74499928	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.49520886589696E-4	0.004
18	72167164	C	A	18	74499929	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.09069125317345E-4	0.01
18	72167164	C	G	18	74499929	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.07902708129146E-4	0.008
18	72167164	C	T	18	74499929	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.44101454748109E-4	0.008
18	72167165	T	A	18	74499930	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.64431530690134E-4	0.024
18	72167165	T	C	18	74499930	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.64431530690134E-4	0.028
18	72167165	T	G	18	74499930	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.64431530690134E-4	0.064
18	72167166	T	A	18	74499931	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.31237407387707E-4	0.008
18	72167166	T	C	18	74499931	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.74046797087874E-5	0.0
18	72167166	T	G	18	74499931	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	9.74046797087874E-5	0.0
18	72167167	C	A	18	74499932	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.40839623268995E-5	0.0
18	72167167	C	G	18	74499932	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.40839623268995E-5	0.0
18	72167167	C	T	18	74499932	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.40839623268995E-5	0.0
18	72167168	C	A	18	74499933	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.69930370103191E-5	0.0
18	72167168	C	G	18	74499933	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.69930370103191E-5	0.0
18	72167168	C	T	18	74499933	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.69930370103191E-5	0.0
18	72167169	A	C	18	74499934	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.86764315709017E-5	0.0
18	72167169	A	G	18	74499934	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.86764315709017E-5	0.0
18	72167169	A	T	18	74499934	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.87318874819795E-5	0.0
18	72167170	A	C	18	74499935	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	5.16330829822682E-6	0.0
18	72167170	A	G	18	74499935	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	5.16330829822682E-6	0.0
18	72167170	A	T	18	74499935	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	5.16330829822682E-6	0.0
18	72167171	G	A	18	74499936	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	4.81587919352141E-4	0.0
18	72167171	G	C	18	74499936	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.35115461238441E-4	0.0
18	72167171	G	T	18	74499936	n	y	UTR5	CNDP2	.	.	splicing	ENSG00000133313	.	.	3.35115461238441E-4	0.0
18	72167172	A	C	18	74499937	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.29494655146643E-4	0.016
18	72167172	A	G	18	74499937	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.29494655146643E-4	0.018
18	72167172	A	T	18	74499937	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	1.29494655146643E-4	0.014
18	72167173	A	C	18	74499938	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.01315188657279E-5	0.002
18	72167173	A	G	18	74499938	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.01315188657279E-5	0.002
18	72167173	A	T	18	74499938	n	y	UTR5	CNDP2	.	.	UTR5	ENSG00000133313	.	.	7.01315188657279E-5	0.002
18	72167266	A	C	18	74500031	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon2:c.A58C:p.K20Q;CNDP2:NM_001168499:exon1:c.A58C:p.K20Q;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon3:c.A58C:p.K20Q;ENSG00000133313:ENST00000581272:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000583203:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000579847:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000583785:exon1:c.A58C:p.K20Q;ENSG00000133313:ENST00000581912:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000577600:exon3:c.A58C:p.K20Q;ENSG00000133313:ENST00000582260:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000583216:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000579583:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000324262:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000582589:exon2:c.A58C:p.K20Q;ENSG00000133313:ENST00000584613:exon3:c.A58C:p.K20Q;ENSG00000133313:ENST00000324301:exon1:c.A58C:p.K20Q;	1.10076741458912E-4	0.002
18	72167266	A	G	18	74500031	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon2:c.A58G:p.K20E;CNDP2:NM_001168499:exon1:c.A58G:p.K20E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon3:c.A58G:p.K20E;ENSG00000133313:ENST00000581272:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000583203:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000579847:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000583785:exon1:c.A58G:p.K20E;ENSG00000133313:ENST00000581912:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000577600:exon3:c.A58G:p.K20E;ENSG00000133313:ENST00000582260:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000583216:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000579583:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000324262:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000582589:exon2:c.A58G:p.K20E;ENSG00000133313:ENST00000584613:exon3:c.A58G:p.K20E;ENSG00000133313:ENST00000324301:exon1:c.A58G:p.K20E;	4.19918549452199E-4	0.004
18	72167266	A	T	18	74500031	y	y	exonic	CNDP2	stopgain SNV	CNDP2:NM_018235:exon2:c.A58T:p.K20X;CNDP2:NM_001168499:exon1:c.A58T:p.K20X;	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000581513:exon3:c.A58T:p.K20X;ENSG00000133313:ENST00000581272:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000583203:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000579847:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000583785:exon1:c.A58T:p.K20X;ENSG00000133313:ENST00000581912:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000577600:exon3:c.A58T:p.K20X;ENSG00000133313:ENST00000582260:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000583216:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000579583:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000324262:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000582589:exon2:c.A58T:p.K20X;ENSG00000133313:ENST00000584613:exon3:c.A58T:p.K20X;ENSG00000133313:ENST00000324301:exon1:c.A58T:p.K20X;	0.00580756042237713	0.352
18	72167267	A	C	18	74500032	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon2:c.A59C:p.K20T;CNDP2:NM_001168499:exon1:c.A59C:p.K20T;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon3:c.A59C:p.K20T;ENSG00000133313:ENST00000581272:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000583203:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000579847:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000583785:exon1:c.A59C:p.K20T;ENSG00000133313:ENST00000581912:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000577600:exon3:c.A59C:p.K20T;ENSG00000133313:ENST00000582260:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000583216:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000579583:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000324262:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000582589:exon2:c.A59C:p.K20T;ENSG00000133313:ENST00000584613:exon3:c.A59C:p.K20T;ENSG00000133313:ENST00000324301:exon1:c.A59C:p.K20T;	0.964189662091817	0.798
18	72167267	A	G	18	74500032	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon2:c.A59G:p.K20R;CNDP2:NM_001168499:exon1:c.A59G:p.K20R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon3:c.A59G:p.K20R;ENSG00000133313:ENST00000581272:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000583203:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000579847:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000583785:exon1:c.A59G:p.K20R;ENSG00000133313:ENST00000581912:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000577600:exon3:c.A59G:p.K20R;ENSG00000133313:ENST00000582260:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000583216:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000579583:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000324262:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000582589:exon2:c.A59G:p.K20R;ENSG00000133313:ENST00000584613:exon3:c.A59G:p.K20R;ENSG00000133313:ENST00000324301:exon1:c.A59G:p.K20R;	0.98184064874067	0.912
18	72167267	A	T	18	74500032	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon2:c.A59T:p.K20M;CNDP2:NM_001168499:exon1:c.A59T:p.K20M;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon3:c.A59T:p.K20M;ENSG00000133313:ENST00000581272:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000583203:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000579847:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000583785:exon1:c.A59T:p.K20M;ENSG00000133313:ENST00000581912:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000577600:exon3:c.A59T:p.K20M;ENSG00000133313:ENST00000582260:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000583216:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000579583:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000324262:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000582589:exon2:c.A59T:p.K20M;ENSG00000133313:ENST00000584613:exon3:c.A59T:p.K20M;ENSG00000133313:ENST00000324301:exon1:c.A59T:p.K20M;	0.966038547298292	0.576
18	72167268	G	A	18	74500033	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon2:c.G60A:p.K20K;CNDP2:NM_001168499:exon1:c.G60A:p.K20K;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000581513:exon3:c.G60A:p.K20K;ENSG00000133313:ENST00000581272:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000583203:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000579847:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000583785:exon1:c.G60A:p.K20K;ENSG00000133313:ENST00000581912:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000577600:exon3:c.G60A:p.K20K;ENSG00000133313:ENST00000582260:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000583216:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000579583:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000324262:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000582589:exon2:c.G60A:p.K20K;ENSG00000133313:ENST00000584613:exon3:c.G60A:p.K20K;ENSG00000133313:ENST00000324301:exon1:c.G60A:p.K20K;	0.999821556642603	0.974
18	72167268	G	C	18	74500033	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon2:c.G60C:p.K20N;CNDP2:NM_001168499:exon1:c.G60C:p.K20N;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon3:c.G60C:p.K20N;ENSG00000133313:ENST00000581272:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000583203:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000579847:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000583785:exon1:c.G60C:p.K20N;ENSG00000133313:ENST00000581912:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000577600:exon3:c.G60C:p.K20N;ENSG00000133313:ENST00000582260:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000583216:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000579583:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000324262:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000582589:exon2:c.G60C:p.K20N;ENSG00000133313:ENST00000584613:exon3:c.G60C:p.K20N;ENSG00000133313:ENST00000324301:exon1:c.G60C:p.K20N;	0.999634437363482	0.934
18	72167268	G	T	18	74500033	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon2:c.G60T:p.K20N;CNDP2:NM_001168499:exon1:c.G60T:p.K20N;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon3:c.G60T:p.K20N;ENSG00000133313:ENST00000581272:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000583203:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000579847:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000583785:exon1:c.G60T:p.K20N;ENSG00000133313:ENST00000581912:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000577600:exon3:c.G60T:p.K20N;ENSG00000133313:ENST00000582260:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000583216:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000579583:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000324262:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000582589:exon2:c.G60T:p.K20N;ENSG00000133313:ENST00000584613:exon3:c.G60T:p.K20N;ENSG00000133313:ENST00000324301:exon1:c.G60T:p.K20N;	0.998908906966887	0.946
18	72167269	G	A	18	74500034	y	y	splicing	CNDP2(NM_018235:exon2:c.60+1G>A;NM_001168499:exon1:c.60+1G>A)	.	.	splicing	ENSG00000133313(ENST00000581272:exon2:c.60+1G>A;ENST00000324262:exon2:c.60+1G>A;ENST00000579847:exon2:c.60+1G>A;ENST00000583203:exon2:c.60+1G>A;ENST00000582260:exon2:c.60+1G>A;ENST00000581513:exon3:c.60+1G>A;ENST00000577600:exon3:c.60+1G>A;ENST00000579583:exon2:c.60+1G>A;ENST00000584613:exon3:c.60+1G>A;ENST00000583216:exon2:c.60+1G>A;ENST00000581912:exon2:c.60+1G>A;ENST00000582589:exon2:c.60+1G>A;ENST00000583785:exon1:c.60+1G>A;ENST00000324301:exon1:c.60+1G>A)	.	.	0.999986675681007	0.934
18	72167269	G	C	18	74500034	y	y	splicing	CNDP2(NM_018235:exon2:c.60+1G>C;NM_001168499:exon1:c.60+1G>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon2:c.60+1G>C;ENST00000324262:exon2:c.60+1G>C;ENST00000579847:exon2:c.60+1G>C;ENST00000583203:exon2:c.60+1G>C;ENST00000582260:exon2:c.60+1G>C;ENST00000581513:exon3:c.60+1G>C;ENST00000577600:exon3:c.60+1G>C;ENST00000579583:exon2:c.60+1G>C;ENST00000584613:exon3:c.60+1G>C;ENST00000583216:exon2:c.60+1G>C;ENST00000581912:exon2:c.60+1G>C;ENST00000582589:exon2:c.60+1G>C;ENST00000583785:exon1:c.60+1G>C;ENST00000324301:exon1:c.60+1G>C)	.	.	0.999986675681007	0.934
18	72167269	G	T	18	74500034	y	y	splicing	CNDP2(NM_018235:exon2:c.60+1G>T;NM_001168499:exon1:c.60+1G>T)	.	.	splicing	ENSG00000133313(ENST00000581272:exon2:c.60+1G>T;ENST00000324262:exon2:c.60+1G>T;ENST00000579847:exon2:c.60+1G>T;ENST00000583203:exon2:c.60+1G>T;ENST00000582260:exon2:c.60+1G>T;ENST00000581513:exon3:c.60+1G>T;ENST00000577600:exon3:c.60+1G>T;ENST00000579583:exon2:c.60+1G>T;ENST00000584613:exon3:c.60+1G>T;ENST00000583216:exon2:c.60+1G>T;ENST00000581912:exon2:c.60+1G>T;ENST00000582589:exon2:c.60+1G>T;ENST00000583785:exon1:c.60+1G>T;ENST00000324301:exon1:c.60+1G>T)	.	.	0.999986675681007	0.934
18	72167270	T	A	18	74500035	y	y	splicing	CNDP2(NM_018235:exon2:c.60+2T>A;NM_001168499:exon1:c.60+2T>A)	.	.	splicing	ENSG00000133313(ENST00000581272:exon2:c.60+2T>A;ENST00000324262:exon2:c.60+2T>A;ENST00000579847:exon2:c.60+2T>A;ENST00000583203:exon2:c.60+2T>A;ENST00000582260:exon2:c.60+2T>A;ENST00000581513:exon3:c.60+2T>A;ENST00000577600:exon3:c.60+2T>A;ENST00000579583:exon2:c.60+2T>A;ENST00000584613:exon3:c.60+2T>A;ENST00000583216:exon2:c.60+2T>A;ENST00000581912:exon2:c.60+2T>A;ENST00000582589:exon2:c.60+2T>A;ENST00000583785:exon1:c.60+2T>A;ENST00000324301:exon1:c.60+2T>A)	.	.	0.999989917668626	0.926
18	72167270	T	C	18	74500035	y	y	splicing	CNDP2(NM_018235:exon2:c.60+2T>C;NM_001168499:exon1:c.60+2T>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon2:c.60+2T>C;ENST00000324262:exon2:c.60+2T>C;ENST00000579847:exon2:c.60+2T>C;ENST00000583203:exon2:c.60+2T>C;ENST00000582260:exon2:c.60+2T>C;ENST00000581513:exon3:c.60+2T>C;ENST00000577600:exon3:c.60+2T>C;ENST00000579583:exon2:c.60+2T>C;ENST00000584613:exon3:c.60+2T>C;ENST00000583216:exon2:c.60+2T>C;ENST00000581912:exon2:c.60+2T>C;ENST00000582589:exon2:c.60+2T>C;ENST00000583785:exon1:c.60+2T>C;ENST00000324301:exon1:c.60+2T>C)	.	.	0.986528855787127	0.614
18	72167270	T	G	18	74500035	y	y	splicing	CNDP2(NM_018235:exon2:c.60+2T>G;NM_001168499:exon1:c.60+2T>G)	.	.	splicing	ENSG00000133313(ENST00000581272:exon2:c.60+2T>G;ENST00000324262:exon2:c.60+2T>G;ENST00000579847:exon2:c.60+2T>G;ENST00000583203:exon2:c.60+2T>G;ENST00000582260:exon2:c.60+2T>G;ENST00000581513:exon3:c.60+2T>G;ENST00000577600:exon3:c.60+2T>G;ENST00000579583:exon2:c.60+2T>G;ENST00000584613:exon3:c.60+2T>G;ENST00000583216:exon2:c.60+2T>G;ENST00000581912:exon2:c.60+2T>G;ENST00000582589:exon2:c.60+2T>G;ENST00000583785:exon1:c.60+2T>G;ENST00000324301:exon1:c.60+2T>G)	.	.	0.999989917668626	0.926
18	72167271	A	C	18	74500036	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.847116857341673	0.616
18	72167271	A	G	18	74500036	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.08049697872173E-4	0.06
18	72167271	A	T	18	74500036	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.703466061743328	0.562
18	72167272	A	C	18	74500037	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0543276717641406	0.268
18	72167272	A	G	18	74500037	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.235050000781441	0.29
18	72167272	A	T	18	74500037	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0192735152857439	0.204
18	72167273	G	A	18	74500038	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.951854012624483	0.69
18	72167273	G	C	18	74500038	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.809780789537233	0.694
18	72167273	G	T	18	74500038	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.854057435184115	0.642
18	72167274	G	A	18	74500039	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.67014839738605E-5	0.006
18	72167274	G	C	18	74500039	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.71474734618858E-4	0.034
18	72167274	G	T	18	74500039	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.73228224322068E-5	0.002
18	72167275	G	A	18	74500040	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.16653715651226E-4	0.012
18	72167275	G	C	18	74500040	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.30492617351639E-4	0.006
18	72167275	G	T	18	74500040	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.32022946453205E-4	0.0
18	72167276	A	C	18	74500041	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.37752450809321E-4	0.018
18	72167276	A	G	18	74500041	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.91219527972473E-5	0.0
18	72167276	A	T	18	74500041	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.96592936074085E-5	0.006
18	72168325	G	A	18	74501090	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.18905158676629E-5	0.02
18	72168325	G	C	18	74501090	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.60742385600787E-5	0.016
18	72168325	G	T	18	74501090	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.18905158676629E-5	0.02
18	72168326	T	A	18	74501091	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.20279124519223E-5	0.012
18	72168326	T	C	18	74501091	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	8.29444940048665E-5	0.006
18	72168326	T	G	18	74501091	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	8.29444940048665E-5	0.006
18	72168327	T	A	18	74501092	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.03640525457558E-5	0.002
18	72168327	T	C	18	74501092	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.73477007530828E-5	0.006
18	72168327	T	G	18	74501092	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.73477007530828E-5	0.008
18	72168328	T	A	18	74501093	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.77981388804492E-5	0.004
18	72168328	T	C	18	74501093	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.77981388804492E-5	0.006
18	72168328	T	G	18	74501093	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.77981388804492E-5	0.006
18	72168329	T	A	18	74501094	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	6.73477007530828E-5	0.006
18	72168329	T	C	18	74501094	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.24015432087519E-5	0.0
18	72168329	T	G	18	74501094	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.24015432087519E-5	0.002
18	72168330	T	A	18	74501095	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.77981388804492E-5	0.006
18	72168330	T	C	18	74501095	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.05445532117032E-5	0.018
18	72168330	T	G	18	74501095	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.05445532117032E-5	0.02
18	72168331	A	C	18	74501096	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.05445532117032E-5	0.02
18	72168331	A	G	18	74501096	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	5.05445532117032E-5	0.02
18	72168331	A	T	18	74501096	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	3.77981388804492E-5	0.006
18	72168332	A	C	18	74501097	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.76699047081367E-5	0.006
18	72168332	A	G	18	74501097	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.76699047081367E-5	0.008
18	72168332	A	T	18	74501097	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.76699047081367E-5	0.006
18	72168333	A	C	18	74501098	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.76699047081367E-5	0.008
18	72168333	A	G	18	74501098	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.76699047081367E-5	0.008
18	72168333	A	T	18	74501098	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	4.76699047081367E-5	0.008
18	72168334	C	A	18	74501099	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.27903246756269E-5	0.0
18	72168334	C	G	18	74501099	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.27903246756269E-5	0.0
18	72168334	C	T	18	74501099	n	y	intronic	CNDP2	.	.	UTR5	ENSG00000133313	.	.	2.45912696540297E-5	0.0
18	72168335	A	C	18	74501100	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313(ENST00000582260:exon3:c.61-2A>C)	.	.	3.87733132348539E-5	0.0
18	72168335	A	G	18	74501100	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313(ENST00000582260:exon3:c.61-2A>G)	.	.	3.87733132348539E-5	0.0
18	72168335	A	T	18	74501100	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313(ENST00000582260:exon3:c.61-2A>T)	.	.	3.87733132348539E-5	0.0
18	72168336	G	A	18	74501101	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313(ENST00000582260:exon3:c.61-1G>A)	.	.	2.27903246756269E-5	0.0
18	72168336	G	C	18	74501101	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313(ENST00000582260:exon3:c.61-1G>C)	.	.	2.27903246756269E-5	0.0
18	72168336	G	T	18	74501101	n	y	intronic	CNDP2	.	.	splicing	ENSG00000133313(ENST00000582260:exon3:c.61-1G>T)	.	.	2.27903246756269E-5	0.0
18	72168337	G	A	18	74501102	n	y	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582260:exon3:c.G61A:p.V21I;	6.18905158676629E-5	0.052
18	72168337	G	C	18	74501102	n	y	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582260:exon3:c.G61C:p.V21L;	6.18905158676629E-5	0.02
18	72168337	G	T	18	74501102	n	y	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582260:exon3:c.G61T:p.V21L;	6.18905158676629E-5	0.03
18	72168338	T	A	18	74501103	n	y	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582260:exon3:c.T62A:p.V21E;	5.05445532117032E-5	0.018
18	72168338	T	C	18	74501103	n	y	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582260:exon3:c.T62C:p.V21A;	5.05445532117032E-5	0.016
18	72168338	T	G	18	74501103	n	y	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582260:exon3:c.T62G:p.V21G;	4.43601530502877E-5	0.008
18	72168552	G	A	18	74501317	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.G166A:p.V56I;	1.00260073909507E-4	0.036
18	72168552	G	C	18	74501317	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.G166C:p.V56L;	2.15618257314977E-5	0.064
18	72168552	G	T	18	74501317	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.G166T:p.V56F;	2.28949672429385E-5	0.026
18	72168553	T	A	18	74501318	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.T167A:p.V56D;	0.788598884010232	0.596
18	72168553	T	C	18	74501318	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.T167C:p.V56A;	9.64972154106811E-4	0.118
18	72168553	T	G	18	74501318	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.T167G:p.V56G;	0.792443037967827	0.576
18	72168554	C	A	18	74501319	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C168A:p.V56V;	0.00523983700554274	0.326
18	72168554	C	G	18	74501319	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C168G:p.V56V;	0.00192575067420217	0.254
18	72168554	C	T	18	74501319	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C168T:p.V56V;	1.01512332320267E-4	0.014
18	72168555	C	A	18	74501320	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C169A:p.H57N;	0.00176890660265798	0.116
18	72168555	C	G	18	74501320	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C169G:p.H57D;	0.0029383417606421	0.07
18	72168555	C	T	18	74501320	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C169T:p.H57Y;	6.54643395101636E-5	0.012
18	72168556	A	C	18	74501321	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A170C:p.H57P;	1.94722258347689E-4	0.004
18	72168556	A	G	18	74501321	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A170G:p.H57R;	7.24803654094094E-5	0.008
18	72168556	A	T	18	74501321	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A170T:p.H57L;	1.12834722219284E-4	0.02
18	72168557	C	A	18	74501322	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C171A:p.H57Q;	0.00261904903933549	0.21
18	72168557	C	G	18	74501322	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C171G:p.H57Q;	0.999009894416125	0.99
18	72168557	C	T	18	74501322	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C171T:p.H57H;	4.92972448355151E-5	0.004
18	72168558	A	C	18	74501323	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A172C:p.K58Q;	2.06481237244302E-5	0.0
18	72168558	A	G	18	74501323	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A172G:p.K58E;	2.98201415638193E-5	0.0
18	72168558	A	T	18	74501323	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000583203:exon3:c.A172T:p.K58X;	2.03780931783211E-5	0.292
18	72168559	A	C	18	74501324	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A173C:p.K58T;	1.68879409084043E-5	0.0
18	72168559	A	G	18	74501324	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A173G:p.K58R;	0.981643456020504	0.91
18	72168559	A	T	18	74501324	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A173T:p.K58I;	2.08349509246915E-5	0.0
18	72168560	A	C	18	74501325	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A174C:p.K58N;	0.00623905352107116	0.094
18	72168560	A	G	18	74501325	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A174G:p.K58K;	0.98242902541054	0.768
18	72168560	A	T	18	74501325	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A174T:p.K58N;	0.0359243310462261	0.152
18	72168561	C	A	18	74501326	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C175A:p.Q59K;	0.985058973095364	0.91
18	72168561	C	G	18	74501326	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.C175G:p.Q59E;	0.999565207434083	0.842
18	72168561	C	T	18	74501326	y	n	intronic	CNDP2	.	.	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000583203:exon3:c.C175T:p.Q59X;	0.967444782361415	0.7
18	72168562	A	C	18	74501327	y	n	splicing	CNDP2(NM_018235:exon3:c.61-2A>C;NM_001168499:exon2:c.61-2A>C)	.	.	exonic;splicing	ENSG00000133313;ENSG00000133313(ENST00000581272:exon3:c.61-2A>C;ENST00000324262:exon3:c.61-2A>C;ENST00000579847:exon3:c.61-2A>C;ENST00000582260:exon4:c.198-2A>C;ENST00000581513:exon4:c.61-2A>C;ENST00000577600:exon4:c.61-2A>C;ENST00000579583:exon3:c.61-2A>C;ENST00000584613:exon4:c.61-2A>C;ENST00000583216:exon3:c.61-2A>C;ENST00000581912:exon3:c.61-2A>C;ENST00000582589:exon3:c.61-2A>C;ENST00000583785:exon2:c.61-2A>C;ENST00000324301:exon2:c.61-2A>C)	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A176C:p.Q59P;	0.999952590261929	0.9
18	72168562	A	G	18	74501327	y	n	splicing	CNDP2(NM_018235:exon3:c.61-2A>G;NM_001168499:exon2:c.61-2A>G)	.	.	exonic;splicing	ENSG00000133313;ENSG00000133313(ENST00000581272:exon3:c.61-2A>G;ENST00000324262:exon3:c.61-2A>G;ENST00000579847:exon3:c.61-2A>G;ENST00000582260:exon4:c.198-2A>G;ENST00000581513:exon4:c.61-2A>G;ENST00000577600:exon4:c.61-2A>G;ENST00000579583:exon3:c.61-2A>G;ENST00000584613:exon4:c.61-2A>G;ENST00000583216:exon3:c.61-2A>G;ENST00000581912:exon3:c.61-2A>G;ENST00000582589:exon3:c.61-2A>G;ENST00000583785:exon2:c.61-2A>G;ENST00000324301:exon2:c.61-2A>G)	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A176G:p.Q59R;	0.999952590261929	0.898
18	72168562	A	T	18	74501327	y	n	splicing	CNDP2(NM_018235:exon3:c.61-2A>T;NM_001168499:exon2:c.61-2A>T)	.	.	exonic;splicing	ENSG00000133313;ENSG00000133313(ENST00000581272:exon3:c.61-2A>T;ENST00000324262:exon3:c.61-2A>T;ENST00000579847:exon3:c.61-2A>T;ENST00000582260:exon4:c.198-2A>T;ENST00000581513:exon4:c.61-2A>T;ENST00000577600:exon4:c.61-2A>T;ENST00000579583:exon3:c.61-2A>T;ENST00000584613:exon4:c.61-2A>T;ENST00000583216:exon3:c.61-2A>T;ENST00000581912:exon3:c.61-2A>T;ENST00000582589:exon3:c.61-2A>T;ENST00000583785:exon2:c.61-2A>T;ENST00000324301:exon2:c.61-2A>T)	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.A176T:p.Q59L;	0.999952590261929	0.902
18	72168563	G	A	18	74501328	y	n	splicing	CNDP2(NM_018235:exon3:c.61-1G>A;NM_001168499:exon2:c.61-1G>A)	.	.	exonic;splicing	ENSG00000133313;ENSG00000133313(ENST00000581272:exon3:c.61-1G>A;ENST00000324262:exon3:c.61-1G>A;ENST00000579847:exon3:c.61-1G>A;ENST00000582260:exon4:c.198-1G>A;ENST00000581513:exon4:c.61-1G>A;ENST00000577600:exon4:c.61-1G>A;ENST00000579583:exon3:c.61-1G>A;ENST00000584613:exon4:c.61-1G>A;ENST00000583216:exon3:c.61-1G>A;ENST00000581912:exon3:c.61-1G>A;ENST00000582589:exon3:c.61-1G>A;ENST00000583785:exon2:c.61-1G>A;ENST00000324301:exon2:c.61-1G>A)	synonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.G177A:p.Q59Q;	0.999985605487397	0.904
18	72168563	G	C	18	74501328	y	n	splicing	CNDP2(NM_018235:exon3:c.61-1G>C;NM_001168499:exon2:c.61-1G>C)	.	.	exonic;splicing	ENSG00000133313;ENSG00000133313(ENST00000581272:exon3:c.61-1G>C;ENST00000324262:exon3:c.61-1G>C;ENST00000579847:exon3:c.61-1G>C;ENST00000582260:exon4:c.198-1G>C;ENST00000581513:exon4:c.61-1G>C;ENST00000577600:exon4:c.61-1G>C;ENST00000579583:exon3:c.61-1G>C;ENST00000584613:exon4:c.61-1G>C;ENST00000583216:exon3:c.61-1G>C;ENST00000581912:exon3:c.61-1G>C;ENST00000582589:exon3:c.61-1G>C;ENST00000583785:exon2:c.61-1G>C;ENST00000324301:exon2:c.61-1G>C)	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.G177C:p.Q59H;	0.999985605487397	0.902
18	72168563	G	T	18	74501328	y	n	splicing	CNDP2(NM_018235:exon3:c.61-1G>T;NM_001168499:exon2:c.61-1G>T)	.	.	exonic;splicing	ENSG00000133313;ENSG00000133313(ENST00000581272:exon3:c.61-1G>T;ENST00000324262:exon3:c.61-1G>T;ENST00000579847:exon3:c.61-1G>T;ENST00000582260:exon4:c.198-1G>T;ENST00000581513:exon4:c.61-1G>T;ENST00000577600:exon4:c.61-1G>T;ENST00000579583:exon3:c.61-1G>T;ENST00000584613:exon4:c.61-1G>T;ENST00000583216:exon3:c.61-1G>T;ENST00000581912:exon3:c.61-1G>T;ENST00000582589:exon3:c.61-1G>T;ENST00000583785:exon2:c.61-1G>T;ENST00000324301:exon2:c.61-1G>T)	nonsynonymous SNV	ENSG00000133313:ENST00000583203:exon3:c.G177T:p.Q59H;	0.999985605487397	0.902
18	72168564	A	C	18	74501329	y	n	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A61C:p.K21Q;CNDP2:NM_001168499:exon2:c.A61C:p.K21Q;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon4:c.A61C:p.K21Q;ENSG00000133313:ENST00000581272:exon3:c.A61C:p.K21Q;ENSG00000133313:ENST00000583203:exon3:c.A178C:p.K60Q;ENSG00000133313:ENST00000579847:exon3:c.A61C:p.K21Q;ENSG00000133313:ENST00000583785:exon2:c.A61C:p.K21Q;ENSG00000133313:ENST00000581912:exon3:c.A61C:p.K21Q;ENSG00000133313:ENST00000577600:exon4:c.A61C:p.K21Q;ENSG00000133313:ENST00000583216:exon3:c.A61C:p.K21Q;ENSG00000133313:ENST00000579583:exon3:c.A61C:p.K21Q;ENSG00000133313:ENST00000324262:exon3:c.A61C:p.K21Q;ENSG00000133313:ENST00000582589:exon3:c.A61C:p.K21Q;ENSG00000133313:ENST00000584613:exon4:c.A61C:p.K21Q;ENSG00000133313:ENST00000324301:exon2:c.A61C:p.K21Q;	0.0238731807488893	0.162
18	72168564	A	G	18	74501329	y	n	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A61G:p.K21E;CNDP2:NM_001168499:exon2:c.A61G:p.K21E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon4:c.A61G:p.K21E;ENSG00000133313:ENST00000581272:exon3:c.A61G:p.K21E;ENSG00000133313:ENST00000583203:exon3:c.A178G:p.K60E;ENSG00000133313:ENST00000579847:exon3:c.A61G:p.K21E;ENSG00000133313:ENST00000583785:exon2:c.A61G:p.K21E;ENSG00000133313:ENST00000581912:exon3:c.A61G:p.K21E;ENSG00000133313:ENST00000577600:exon4:c.A61G:p.K21E;ENSG00000133313:ENST00000583216:exon3:c.A61G:p.K21E;ENSG00000133313:ENST00000579583:exon3:c.A61G:p.K21E;ENSG00000133313:ENST00000324262:exon3:c.A61G:p.K21E;ENSG00000133313:ENST00000582589:exon3:c.A61G:p.K21E;ENSG00000133313:ENST00000584613:exon4:c.A61G:p.K21E;ENSG00000133313:ENST00000324301:exon2:c.A61G:p.K21E;	0.00115934114670764	0.028
18	72168564	A	T	18	74501329	y	n	exonic	CNDP2	stopgain SNV	CNDP2:NM_018235:exon3:c.A61T:p.K21X;CNDP2:NM_001168499:exon2:c.A61T:p.K21X;	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000581513:exon4:c.A61T:p.K21X;ENSG00000133313:ENST00000581272:exon3:c.A61T:p.K21X;ENSG00000133313:ENST00000583203:exon3:c.A178T:p.K60X;ENSG00000133313:ENST00000579847:exon3:c.A61T:p.K21X;ENSG00000133313:ENST00000583785:exon2:c.A61T:p.K21X;ENSG00000133313:ENST00000581912:exon3:c.A61T:p.K21X;ENSG00000133313:ENST00000577600:exon4:c.A61T:p.K21X;ENSG00000133313:ENST00000583216:exon3:c.A61T:p.K21X;ENSG00000133313:ENST00000579583:exon3:c.A61T:p.K21X;ENSG00000133313:ENST00000324262:exon3:c.A61T:p.K21X;ENSG00000133313:ENST00000582589:exon3:c.A61T:p.K21X;ENSG00000133313:ENST00000584613:exon4:c.A61T:p.K21X;ENSG00000133313:ENST00000324301:exon2:c.A61T:p.K21X;	0.463107617169365	0.524
18	72168565	A	C	18	74501330	y	n	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A62C:p.K21T;CNDP2:NM_001168499:exon2:c.A62C:p.K21T;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon4:c.A62C:p.K21T;ENSG00000133313:ENST00000581272:exon3:c.A62C:p.K21T;ENSG00000133313:ENST00000583203:exon3:c.A179C:p.K60T;ENSG00000133313:ENST00000579847:exon3:c.A62C:p.K21T;ENSG00000133313:ENST00000583785:exon2:c.A62C:p.K21T;ENSG00000133313:ENST00000581912:exon3:c.A62C:p.K21T;ENSG00000133313:ENST00000577600:exon4:c.A62C:p.K21T;ENSG00000133313:ENST00000582260:exon4:c.A199C:p.N67H;ENSG00000133313:ENST00000583216:exon3:c.A62C:p.K21T;ENSG00000133313:ENST00000579583:exon3:c.A62C:p.K21T;ENSG00000133313:ENST00000324262:exon3:c.A62C:p.K21T;ENSG00000133313:ENST00000582589:exon3:c.A62C:p.K21T;ENSG00000133313:ENST00000584613:exon4:c.A62C:p.K21T;ENSG00000133313:ENST00000324301:exon2:c.A62C:p.K21T;	0.01051764204389	0.178
18	72168565	A	G	18	74501330	y	n	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A62G:p.K21R;CNDP2:NM_001168499:exon2:c.A62G:p.K21R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon4:c.A62G:p.K21R;ENSG00000133313:ENST00000581272:exon3:c.A62G:p.K21R;ENSG00000133313:ENST00000583203:exon3:c.A179G:p.K60R;ENSG00000133313:ENST00000579847:exon3:c.A62G:p.K21R;ENSG00000133313:ENST00000583785:exon2:c.A62G:p.K21R;ENSG00000133313:ENST00000581912:exon3:c.A62G:p.K21R;ENSG00000133313:ENST00000577600:exon4:c.A62G:p.K21R;ENSG00000133313:ENST00000582260:exon4:c.A199G:p.N67D;ENSG00000133313:ENST00000583216:exon3:c.A62G:p.K21R;ENSG00000133313:ENST00000579583:exon3:c.A62G:p.K21R;ENSG00000133313:ENST00000324262:exon3:c.A62G:p.K21R;ENSG00000133313:ENST00000582589:exon3:c.A62G:p.K21R;ENSG00000133313:ENST00000584613:exon4:c.A62G:p.K21R;ENSG00000133313:ENST00000324301:exon2:c.A62G:p.K21R;	0.0445393432485857	0.348
18	72168565	A	T	18	74501330	y	n	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A62T:p.K21I;CNDP2:NM_001168499:exon2:c.A62T:p.K21I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000581513:exon4:c.A62T:p.K21I;ENSG00000133313:ENST00000581272:exon3:c.A62T:p.K21I;ENSG00000133313:ENST00000583203:exon3:c.A179T:p.K60I;ENSG00000133313:ENST00000579847:exon3:c.A62T:p.K21I;ENSG00000133313:ENST00000583785:exon2:c.A62T:p.K21I;ENSG00000133313:ENST00000581912:exon3:c.A62T:p.K21I;ENSG00000133313:ENST00000577600:exon4:c.A62T:p.K21I;ENSG00000133313:ENST00000582260:exon4:c.A199T:p.N67Y;ENSG00000133313:ENST00000583216:exon3:c.A62T:p.K21I;ENSG00000133313:ENST00000579583:exon3:c.A62T:p.K21I;ENSG00000133313:ENST00000324262:exon3:c.A62T:p.K21I;ENSG00000133313:ENST00000582589:exon3:c.A62T:p.K21I;ENSG00000133313:ENST00000584613:exon4:c.A62T:p.K21I;ENSG00000133313:ENST00000324301:exon2:c.A62T:p.K21I;	0.0191817886385701	0.306
18	72168705	A	C	18	74501470	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A202C:p.K68Q;CNDP2:NM_001168499:exon2:c.A202C:p.K68Q;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon1:c.A73C:p.K25Q;ENSG00000133313:ENST00000581513:exon4:c.A202C:p.K68Q;ENSG00000133313:ENST00000581272:exon3:c.A202C:p.K68Q;ENSG00000133313:ENST00000583203:exon3:c.A319C:p.K107Q;ENSG00000133313:ENST00000579847:exon3:c.A202C:p.K68Q;ENSG00000133313:ENST00000583785:exon2:c.A202C:p.K68Q;ENSG00000133313:ENST00000577600:exon4:c.A202C:p.K68Q;ENSG00000133313:ENST00000583216:exon3:c.A202C:p.K68Q;ENSG00000133313:ENST00000579583:exon3:c.A202C:p.K68Q;ENSG00000133313:ENST00000324262:exon3:c.A202C:p.K68Q;ENSG00000133313:ENST00000582589:exon3:c.A202C:p.K68Q;ENSG00000133313:ENST00000584613:exon4:c.A202C:p.K68Q;ENSG00000133313:ENST00000324301:exon2:c.A202C:p.K68Q;	0.00139873055972719	0.012
18	72168705	A	G	18	74501470	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A202G:p.K68E;CNDP2:NM_001168499:exon2:c.A202G:p.K68E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon1:c.A73G:p.K25E;ENSG00000133313:ENST00000581513:exon4:c.A202G:p.K68E;ENSG00000133313:ENST00000581272:exon3:c.A202G:p.K68E;ENSG00000133313:ENST00000583203:exon3:c.A319G:p.K107E;ENSG00000133313:ENST00000579847:exon3:c.A202G:p.K68E;ENSG00000133313:ENST00000583785:exon2:c.A202G:p.K68E;ENSG00000133313:ENST00000577600:exon4:c.A202G:p.K68E;ENSG00000133313:ENST00000583216:exon3:c.A202G:p.K68E;ENSG00000133313:ENST00000579583:exon3:c.A202G:p.K68E;ENSG00000133313:ENST00000324262:exon3:c.A202G:p.K68E;ENSG00000133313:ENST00000582589:exon3:c.A202G:p.K68E;ENSG00000133313:ENST00000584613:exon4:c.A202G:p.K68E;ENSG00000133313:ENST00000324301:exon2:c.A202G:p.K68E;	0.00416860863383219	0.11
18	72168705	A	T	18	74501470	y	y	exonic	CNDP2	stopgain SNV	CNDP2:NM_018235:exon3:c.A202T:p.K68X;CNDP2:NM_001168499:exon2:c.A202T:p.K68X;	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000582666:exon1:c.A73T:p.K25X;ENSG00000133313:ENST00000581513:exon4:c.A202T:p.K68X;ENSG00000133313:ENST00000581272:exon3:c.A202T:p.K68X;ENSG00000133313:ENST00000583203:exon3:c.A319T:p.K107X;ENSG00000133313:ENST00000579847:exon3:c.A202T:p.K68X;ENSG00000133313:ENST00000583785:exon2:c.A202T:p.K68X;ENSG00000133313:ENST00000577600:exon4:c.A202T:p.K68X;ENSG00000133313:ENST00000583216:exon3:c.A202T:p.K68X;ENSG00000133313:ENST00000579583:exon3:c.A202T:p.K68X;ENSG00000133313:ENST00000324262:exon3:c.A202T:p.K68X;ENSG00000133313:ENST00000582589:exon3:c.A202T:p.K68X;ENSG00000133313:ENST00000584613:exon4:c.A202T:p.K68X;ENSG00000133313:ENST00000324301:exon2:c.A202T:p.K68X;	0.965696061151502	0.748
18	72168706	A	C	18	74501471	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A203C:p.K68T;CNDP2:NM_001168499:exon2:c.A203C:p.K68T;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon1:c.A74C:p.K25T;ENSG00000133313:ENST00000581513:exon4:c.A203C:p.K68T;ENSG00000133313:ENST00000581272:exon3:c.A203C:p.K68T;ENSG00000133313:ENST00000583203:exon3:c.A320C:p.K107T;ENSG00000133313:ENST00000579847:exon3:c.A203C:p.K68T;ENSG00000133313:ENST00000583785:exon2:c.A203C:p.K68T;ENSG00000133313:ENST00000577600:exon4:c.A203C:p.K68T;ENSG00000133313:ENST00000583216:exon3:c.A203C:p.K68T;ENSG00000133313:ENST00000579583:exon3:c.A203C:p.K68T;ENSG00000133313:ENST00000324262:exon3:c.A203C:p.K68T;ENSG00000133313:ENST00000582589:exon3:c.A203C:p.K68T;ENSG00000133313:ENST00000584613:exon4:c.A203C:p.K68T;ENSG00000133313:ENST00000324301:exon2:c.A203C:p.K68T;	0.256867809112373	0.61
18	72168706	A	G	18	74501471	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A203G:p.K68R;CNDP2:NM_001168499:exon2:c.A203G:p.K68R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon1:c.A74G:p.K25R;ENSG00000133313:ENST00000581513:exon4:c.A203G:p.K68R;ENSG00000133313:ENST00000581272:exon3:c.A203G:p.K68R;ENSG00000133313:ENST00000583203:exon3:c.A320G:p.K107R;ENSG00000133313:ENST00000579847:exon3:c.A203G:p.K68R;ENSG00000133313:ENST00000583785:exon2:c.A203G:p.K68R;ENSG00000133313:ENST00000577600:exon4:c.A203G:p.K68R;ENSG00000133313:ENST00000583216:exon3:c.A203G:p.K68R;ENSG00000133313:ENST00000579583:exon3:c.A203G:p.K68R;ENSG00000133313:ENST00000324262:exon3:c.A203G:p.K68R;ENSG00000133313:ENST00000582589:exon3:c.A203G:p.K68R;ENSG00000133313:ENST00000584613:exon4:c.A203G:p.K68R;ENSG00000133313:ENST00000324301:exon2:c.A203G:p.K68R;	0.570407081068489	0.494
18	72168706	A	T	18	74501471	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.A203T:p.K68M;CNDP2:NM_001168499:exon2:c.A203T:p.K68M;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon1:c.A74T:p.K25M;ENSG00000133313:ENST00000581513:exon4:c.A203T:p.K68M;ENSG00000133313:ENST00000581272:exon3:c.A203T:p.K68M;ENSG00000133313:ENST00000583203:exon3:c.A320T:p.K107M;ENSG00000133313:ENST00000579847:exon3:c.A203T:p.K68M;ENSG00000133313:ENST00000583785:exon2:c.A203T:p.K68M;ENSG00000133313:ENST00000577600:exon4:c.A203T:p.K68M;ENSG00000133313:ENST00000583216:exon3:c.A203T:p.K68M;ENSG00000133313:ENST00000579583:exon3:c.A203T:p.K68M;ENSG00000133313:ENST00000324262:exon3:c.A203T:p.K68M;ENSG00000133313:ENST00000582589:exon3:c.A203T:p.K68M;ENSG00000133313:ENST00000584613:exon4:c.A203T:p.K68M;ENSG00000133313:ENST00000324301:exon2:c.A203T:p.K68M;	0.774001525349791	0.614
18	72168707	G	A	18	74501472	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon3:c.G204A:p.K68K;CNDP2:NM_001168499:exon2:c.G204A:p.K68K;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000582666:exon1:c.G75A:p.K25K;ENSG00000133313:ENST00000581513:exon4:c.G204A:p.K68K;ENSG00000133313:ENST00000581272:exon3:c.G204A:p.K68K;ENSG00000133313:ENST00000583203:exon3:c.G321A:p.K107K;ENSG00000133313:ENST00000579847:exon3:c.G204A:p.K68K;ENSG00000133313:ENST00000583785:exon2:c.G204A:p.K68K;ENSG00000133313:ENST00000577600:exon4:c.G204A:p.K68K;ENSG00000133313:ENST00000583216:exon3:c.G204A:p.K68K;ENSG00000133313:ENST00000579583:exon3:c.G204A:p.K68K;ENSG00000133313:ENST00000324262:exon3:c.G204A:p.K68K;ENSG00000133313:ENST00000582589:exon3:c.G204A:p.K68K;ENSG00000133313:ENST00000584613:exon4:c.G204A:p.K68K;ENSG00000133313:ENST00000324301:exon2:c.G204A:p.K68K;	0.999469697896792	0.954
18	72168707	G	C	18	74501472	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.G204C:p.K68N;CNDP2:NM_001168499:exon2:c.G204C:p.K68N;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon1:c.G75C:p.K25N;ENSG00000133313:ENST00000581513:exon4:c.G204C:p.K68N;ENSG00000133313:ENST00000581272:exon3:c.G204C:p.K68N;ENSG00000133313:ENST00000583203:exon3:c.G321C:p.K107N;ENSG00000133313:ENST00000579847:exon3:c.G204C:p.K68N;ENSG00000133313:ENST00000583785:exon2:c.G204C:p.K68N;ENSG00000133313:ENST00000577600:exon4:c.G204C:p.K68N;ENSG00000133313:ENST00000583216:exon3:c.G204C:p.K68N;ENSG00000133313:ENST00000579583:exon3:c.G204C:p.K68N;ENSG00000133313:ENST00000324262:exon3:c.G204C:p.K68N;ENSG00000133313:ENST00000582589:exon3:c.G204C:p.K68N;ENSG00000133313:ENST00000584613:exon4:c.G204C:p.K68N;ENSG00000133313:ENST00000324301:exon2:c.G204C:p.K68N;	0.999985550856562	0.976
18	72168707	G	T	18	74501472	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon3:c.G204T:p.K68N;CNDP2:NM_001168499:exon2:c.G204T:p.K68N;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon1:c.G75T:p.K25N;ENSG00000133313:ENST00000581513:exon4:c.G204T:p.K68N;ENSG00000133313:ENST00000581272:exon3:c.G204T:p.K68N;ENSG00000133313:ENST00000583203:exon3:c.G321T:p.K107N;ENSG00000133313:ENST00000579847:exon3:c.G204T:p.K68N;ENSG00000133313:ENST00000583785:exon2:c.G204T:p.K68N;ENSG00000133313:ENST00000577600:exon4:c.G204T:p.K68N;ENSG00000133313:ENST00000583216:exon3:c.G204T:p.K68N;ENSG00000133313:ENST00000579583:exon3:c.G204T:p.K68N;ENSG00000133313:ENST00000324262:exon3:c.G204T:p.K68N;ENSG00000133313:ENST00000582589:exon3:c.G204T:p.K68N;ENSG00000133313:ENST00000584613:exon4:c.G204T:p.K68N;ENSG00000133313:ENST00000324301:exon2:c.G204T:p.K68N;	0.99994874670446	0.982
18	72168708	G	A	18	74501473	y	y	splicing	CNDP2(NM_018235:exon3:c.204+1G>A;NM_001168499:exon2:c.204+1G>A)	.	.	splicing	ENSG00000133313(ENST00000581272:exon3:c.204+1G>A;ENST00000324262:exon3:c.204+1G>A;ENST00000579847:exon3:c.204+1G>A;ENST00000583203:exon3:c.321+1G>A;ENST00000582260:exon4:c.341+1G>A;ENST00000581513:exon4:c.204+1G>A;ENST00000577600:exon4:c.204+1G>A;ENST00000579583:exon3:c.204+1G>A;ENST00000584613:exon4:c.204+1G>A;ENST00000583216:exon3:c.204+1G>A;ENST00000582589:exon3:c.204+1G>A;ENST00000583785:exon2:c.204+1G>A;ENST00000324301:exon2:c.204+1G>A;ENST00000582666:exon1:c.75+1G>A)	.	.	0.999958812450268	0.92
18	72168708	G	C	18	74501473	y	y	splicing	CNDP2(NM_018235:exon3:c.204+1G>C;NM_001168499:exon2:c.204+1G>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon3:c.204+1G>C;ENST00000324262:exon3:c.204+1G>C;ENST00000579847:exon3:c.204+1G>C;ENST00000583203:exon3:c.321+1G>C;ENST00000582260:exon4:c.341+1G>C;ENST00000581513:exon4:c.204+1G>C;ENST00000577600:exon4:c.204+1G>C;ENST00000579583:exon3:c.204+1G>C;ENST00000584613:exon4:c.204+1G>C;ENST00000583216:exon3:c.204+1G>C;ENST00000582589:exon3:c.204+1G>C;ENST00000583785:exon2:c.204+1G>C;ENST00000324301:exon2:c.204+1G>C;ENST00000582666:exon1:c.75+1G>C)	.	.	0.99996748057446	0.906
18	72168708	G	T	18	74501473	y	y	splicing	CNDP2(NM_018235:exon3:c.204+1G>T;NM_001168499:exon2:c.204+1G>T)	.	.	splicing	ENSG00000133313(ENST00000581272:exon3:c.204+1G>T;ENST00000324262:exon3:c.204+1G>T;ENST00000579847:exon3:c.204+1G>T;ENST00000583203:exon3:c.321+1G>T;ENST00000582260:exon4:c.341+1G>T;ENST00000581513:exon4:c.204+1G>T;ENST00000577600:exon4:c.204+1G>T;ENST00000579583:exon3:c.204+1G>T;ENST00000584613:exon4:c.204+1G>T;ENST00000583216:exon3:c.204+1G>T;ENST00000582589:exon3:c.204+1G>T;ENST00000583785:exon2:c.204+1G>T;ENST00000324301:exon2:c.204+1G>T;ENST00000582666:exon1:c.75+1G>T)	.	.	0.999945530492988	0.908
18	72168709	T	A	18	74501474	y	y	splicing	CNDP2(NM_018235:exon3:c.204+2T>A;NM_001168499:exon2:c.204+2T>A)	.	.	splicing	ENSG00000133313(ENST00000581272:exon3:c.204+2T>A;ENST00000324262:exon3:c.204+2T>A;ENST00000579847:exon3:c.204+2T>A;ENST00000583203:exon3:c.321+2T>A;ENST00000582260:exon4:c.341+2T>A;ENST00000581513:exon4:c.204+2T>A;ENST00000577600:exon4:c.204+2T>A;ENST00000579583:exon3:c.204+2T>A;ENST00000584613:exon4:c.204+2T>A;ENST00000583216:exon3:c.204+2T>A;ENST00000582589:exon3:c.204+2T>A;ENST00000583785:exon2:c.204+2T>A;ENST00000324301:exon2:c.204+2T>A;ENST00000582666:exon1:c.75+2T>A)	.	.	0.999971317418422	0.89
18	72168709	T	C	18	74501474	y	y	splicing	CNDP2(NM_018235:exon3:c.204+2T>C;NM_001168499:exon2:c.204+2T>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon3:c.204+2T>C;ENST00000324262:exon3:c.204+2T>C;ENST00000579847:exon3:c.204+2T>C;ENST00000583203:exon3:c.321+2T>C;ENST00000582260:exon4:c.341+2T>C;ENST00000581513:exon4:c.204+2T>C;ENST00000577600:exon4:c.204+2T>C;ENST00000579583:exon3:c.204+2T>C;ENST00000584613:exon4:c.204+2T>C;ENST00000583216:exon3:c.204+2T>C;ENST00000582589:exon3:c.204+2T>C;ENST00000583785:exon2:c.204+2T>C;ENST00000324301:exon2:c.204+2T>C;ENST00000582666:exon1:c.75+2T>C)	.	.	0.968493904004466	0.562
18	72168709	T	G	18	74501474	y	y	splicing	CNDP2(NM_018235:exon3:c.204+2T>G;NM_001168499:exon2:c.204+2T>G)	.	.	splicing	ENSG00000133313(ENST00000581272:exon3:c.204+2T>G;ENST00000324262:exon3:c.204+2T>G;ENST00000579847:exon3:c.204+2T>G;ENST00000583203:exon3:c.321+2T>G;ENST00000582260:exon4:c.341+2T>G;ENST00000581513:exon4:c.204+2T>G;ENST00000577600:exon4:c.204+2T>G;ENST00000579583:exon3:c.204+2T>G;ENST00000584613:exon4:c.204+2T>G;ENST00000583216:exon3:c.204+2T>G;ENST00000582589:exon3:c.204+2T>G;ENST00000583785:exon2:c.204+2T>G;ENST00000324301:exon2:c.204+2T>G;ENST00000582666:exon1:c.75+2T>G)	.	.	0.999972155025474	0.816
18	72168710	A	C	18	74501475	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.226955456677932	0.222
18	72168710	A	G	18	74501475	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0168279023387918	0.182
18	72168710	A	T	18	74501475	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.27322126656433	0.302
18	72168711	G	A	18	74501476	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.49628644249104E-5	0.026
18	72168711	G	C	18	74501476	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.4136145302401E-5	0.0
18	72168711	G	T	18	74501476	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.4136145302401E-5	0.0
18	72168712	G	A	18	74501477	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.902531241042142	0.646
18	72168712	G	C	18	74501477	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.941058356803361	0.754
18	72168712	G	T	18	74501477	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.99946121717341	0.784
18	72168713	A	C	18	74501478	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.50527737589402E-5	0.02
18	72168713	A	G	18	74501478	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.64874478015466E-6	0.0
18	72168713	A	T	18	74501478	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.56948621761695E-5	0.0
18	72168714	G	A	18	74501479	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.78662238186337E-5	0.0
18	72168714	G	C	18	74501479	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.78662238186337E-5	0.0
18	72168714	G	T	18	74501479	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.78662238186337E-5	0.0
18	72168715	G	A	18	74501480	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.85128587679104E-5	0.004
18	72168715	G	C	18	74501480	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.14943646972724E-5	0.004
18	72168715	G	T	18	74501480	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.44454674516076E-5	0.006
18	72173072	C	A	18	74505837	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00134884430953731	0.034
18	72173072	C	G	18	74505837	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00252053470101104	0.028
18	72173072	C	T	18	74505837	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.99824499455016E-5	0.002
18	72173073	T	A	18	74505838	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.979050944151037	0.554
18	72173073	T	C	18	74505838	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00146314284844075	0.062
18	72173073	T	G	18	74505838	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.908246425378527	0.542
18	72173074	C	A	18	74505839	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00200313199841457	0.016
18	72173074	C	G	18	74505839	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00344386814820083	0.02
18	72173074	C	T	18	74505839	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.08167994730402E-5	0.0
18	72173075	C	A	18	74505840	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0011349145472024	0.05
18	72173075	C	G	18	74505840	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00229996967773142	0.088
18	72173075	C	T	18	74505840	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.94136778363519E-5	0.002
18	72173076	A	C	18	74505841	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.438330269964E-5	0.006
18	72173076	A	G	18	74505841	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.08013551391836E-6	0.002
18	72173076	A	T	18	74505841	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.27219349862041E-5	0.0
18	72173077	T	A	18	74505842	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.998228656324733	0.928
18	72173077	T	C	18	74505842	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.61076108888233E-4	0.008
18	72173077	T	G	18	74505842	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999148091751829	0.94
18	72173078	G	A	18	74505843	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.24082267196729E-5	0.006
18	72173078	G	C	18	74505843	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.45613874333799E-5	0.032
18	72173078	G	T	18	74505843	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.89117182631473E-5	0.018
18	72173079	C	A	18	74505844	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00322432270319736	0.054
18	72173079	C	G	18	74505844	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00102447114600453	0.04
18	72173079	C	T	18	74505844	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.3434416968896E-4	0.002
18	72173080	T	A	18	74505845	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.28308266763892E-5	0.0
18	72173080	T	C	18	74505845	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.1210036504555E-4	0.04
18	72173080	T	G	18	74505845	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.50281752765786E-4	0.09
18	72173081	C	A	18	74505846	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.882603834154138	0.544
18	72173081	C	G	18	74505846	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999830562156188	0.858
18	72173081	C	T	18	74505846	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00158861663532602	0.09
18	72173082	A	C	18	74505847	y	y	splicing	CNDP2(NM_018235:exon4:c.205-2A>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.205-2A>C;ENST00000324262:exon4:c.205-2A>C;ENST00000580672:exon2:c.151-2A>C;ENST00000579847:exon4:c.205-2A>C;ENST00000583203:exon4:c.322-2A>C;ENST00000582260:exon5:c.342-2A>C;ENST00000581513:exon5:c.205-2A>C;ENST00000577600:exon5:c.205-2A>C;ENST00000584613:exon5:c.205-2A>C;ENST00000583216:exon4:c.205-2A>C;ENST00000582589:exon4:c.205-2A>C;ENST00000583785:exon3:c.205-2A>C;ENST00000582666:exon2:c.76-2A>C)	.	.	0.999982929679403	0.952
18	72173082	A	G	18	74505847	y	y	splicing	CNDP2(NM_018235:exon4:c.205-2A>G)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.205-2A>G;ENST00000324262:exon4:c.205-2A>G;ENST00000580672:exon2:c.151-2A>G;ENST00000579847:exon4:c.205-2A>G;ENST00000583203:exon4:c.322-2A>G;ENST00000582260:exon5:c.342-2A>G;ENST00000581513:exon5:c.205-2A>G;ENST00000577600:exon5:c.205-2A>G;ENST00000584613:exon5:c.205-2A>G;ENST00000583216:exon4:c.205-2A>G;ENST00000582589:exon4:c.205-2A>G;ENST00000583785:exon3:c.205-2A>G;ENST00000582666:exon2:c.76-2A>G)	.	.	0.999982929679403	0.952
18	72173082	A	T	18	74505847	y	y	splicing	CNDP2(NM_018235:exon4:c.205-2A>T)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.205-2A>T;ENST00000324262:exon4:c.205-2A>T;ENST00000580672:exon2:c.151-2A>T;ENST00000579847:exon4:c.205-2A>T;ENST00000583203:exon4:c.322-2A>T;ENST00000582260:exon5:c.342-2A>T;ENST00000581513:exon5:c.205-2A>T;ENST00000577600:exon5:c.205-2A>T;ENST00000584613:exon5:c.205-2A>T;ENST00000583216:exon4:c.205-2A>T;ENST00000582589:exon4:c.205-2A>T;ENST00000583785:exon3:c.205-2A>T;ENST00000582666:exon2:c.76-2A>T)	.	.	0.999982929679403	0.944
18	72173083	G	A	18	74505848	y	y	splicing	CNDP2(NM_018235:exon4:c.205-1G>A)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.205-1G>A;ENST00000324262:exon4:c.205-1G>A;ENST00000580672:exon2:c.151-1G>A;ENST00000579847:exon4:c.205-1G>A;ENST00000583203:exon4:c.322-1G>A;ENST00000582260:exon5:c.342-1G>A;ENST00000581513:exon5:c.205-1G>A;ENST00000577600:exon5:c.205-1G>A;ENST00000584613:exon5:c.205-1G>A;ENST00000583216:exon4:c.205-1G>A;ENST00000582589:exon4:c.205-1G>A;ENST00000583785:exon3:c.205-1G>A;ENST00000582666:exon2:c.76-1G>A)	.	.	0.999983459627143	0.924
18	72173083	G	C	18	74505848	y	y	splicing	CNDP2(NM_018235:exon4:c.205-1G>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.205-1G>C;ENST00000324262:exon4:c.205-1G>C;ENST00000580672:exon2:c.151-1G>C;ENST00000579847:exon4:c.205-1G>C;ENST00000583203:exon4:c.322-1G>C;ENST00000582260:exon5:c.342-1G>C;ENST00000581513:exon5:c.205-1G>C;ENST00000577600:exon5:c.205-1G>C;ENST00000584613:exon5:c.205-1G>C;ENST00000583216:exon4:c.205-1G>C;ENST00000582589:exon4:c.205-1G>C;ENST00000583785:exon3:c.205-1G>C;ENST00000582666:exon2:c.76-1G>C)	.	.	0.999957317860884	0.924
18	72173083	G	T	18	74505848	y	y	splicing	CNDP2(NM_018235:exon4:c.205-1G>T)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.205-1G>T;ENST00000324262:exon4:c.205-1G>T;ENST00000580672:exon2:c.151-1G>T;ENST00000579847:exon4:c.205-1G>T;ENST00000583203:exon4:c.322-1G>T;ENST00000582260:exon5:c.342-1G>T;ENST00000581513:exon5:c.205-1G>T;ENST00000577600:exon5:c.205-1G>T;ENST00000584613:exon5:c.205-1G>T;ENST00000583216:exon4:c.205-1G>T;ENST00000582589:exon4:c.205-1G>T;ENST00000583785:exon3:c.205-1G>T;ENST00000582666:exon2:c.76-1G>T)	.	.	0.999957317860884	0.924
18	72173084	C	A	18	74505849	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.C205A:p.L69I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.C76A:p.L26I;ENSG00000133313:ENST00000581513:exon5:c.C205A:p.L69I;ENSG00000133313:ENST00000581272:exon4:c.C205A:p.L69I;ENSG00000133313:ENST00000583203:exon4:c.C322A:p.L108I;ENSG00000133313:ENST00000579847:exon4:c.C205A:p.L69I;ENSG00000133313:ENST00000583785:exon3:c.C205A:p.L69I;ENSG00000133313:ENST00000577600:exon5:c.C205A:p.L69I;ENSG00000133313:ENST00000580672:exon2:c.C151A:p.L51I;ENSG00000133313:ENST00000583216:exon4:c.C205A:p.L69I;ENSG00000133313:ENST00000324262:exon4:c.C205A:p.L69I;ENSG00000133313:ENST00000582589:exon4:c.C205A:p.L69I;ENSG00000133313:ENST00000584613:exon5:c.C205A:p.L69I;	6.79583121683619E-4	0.042
18	72173084	C	G	18	74505849	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.C205G:p.L69V;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.C76G:p.L26V;ENSG00000133313:ENST00000581513:exon5:c.C205G:p.L69V;ENSG00000133313:ENST00000581272:exon4:c.C205G:p.L69V;ENSG00000133313:ENST00000583203:exon4:c.C322G:p.L108V;ENSG00000133313:ENST00000579847:exon4:c.C205G:p.L69V;ENSG00000133313:ENST00000583785:exon3:c.C205G:p.L69V;ENSG00000133313:ENST00000577600:exon5:c.C205G:p.L69V;ENSG00000133313:ENST00000580672:exon2:c.C151G:p.L51V;ENSG00000133313:ENST00000583216:exon4:c.C205G:p.L69V;ENSG00000133313:ENST00000324262:exon4:c.C205G:p.L69V;ENSG00000133313:ENST00000582589:exon4:c.C205G:p.L69V;ENSG00000133313:ENST00000584613:exon5:c.C205G:p.L69V;	4.26005408243683E-4	0.15
18	72173084	C	T	18	74505849	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.C205T:p.L69F;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.C76T:p.L26F;ENSG00000133313:ENST00000581513:exon5:c.C205T:p.L69F;ENSG00000133313:ENST00000581272:exon4:c.C205T:p.L69F;ENSG00000133313:ENST00000583203:exon4:c.C322T:p.L108F;ENSG00000133313:ENST00000579847:exon4:c.C205T:p.L69F;ENSG00000133313:ENST00000583785:exon3:c.C205T:p.L69F;ENSG00000133313:ENST00000577600:exon5:c.C205T:p.L69F;ENSG00000133313:ENST00000580672:exon2:c.C151T:p.L51F;ENSG00000133313:ENST00000583216:exon4:c.C205T:p.L69F;ENSG00000133313:ENST00000324262:exon4:c.C205T:p.L69F;ENSG00000133313:ENST00000582589:exon4:c.C205T:p.L69F;ENSG00000133313:ENST00000584613:exon5:c.C205T:p.L69F;	0.0132488531681621	0.326
18	72173085	T	A	18	74505850	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.T206A:p.L69H;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.T77A:p.L26H;ENSG00000133313:ENST00000581513:exon5:c.T206A:p.L69H;ENSG00000133313:ENST00000581272:exon4:c.T206A:p.L69H;ENSG00000133313:ENST00000583203:exon4:c.T323A:p.L108H;ENSG00000133313:ENST00000579847:exon4:c.T206A:p.L69H;ENSG00000133313:ENST00000583785:exon3:c.T206A:p.L69H;ENSG00000133313:ENST00000577600:exon5:c.T206A:p.L69H;ENSG00000133313:ENST00000580672:exon2:c.T152A:p.L51H;ENSG00000133313:ENST00000583216:exon4:c.T206A:p.L69H;ENSG00000133313:ENST00000324262:exon4:c.T206A:p.L69H;ENSG00000133313:ENST00000582589:exon4:c.T206A:p.L69H;ENSG00000133313:ENST00000584613:exon5:c.T206A:p.L69H;	0.0828002489729118	0.17
18	72173085	T	C	18	74505850	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.T206C:p.L69P;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.T77C:p.L26P;ENSG00000133313:ENST00000581513:exon5:c.T206C:p.L69P;ENSG00000133313:ENST00000581272:exon4:c.T206C:p.L69P;ENSG00000133313:ENST00000583203:exon4:c.T323C:p.L108P;ENSG00000133313:ENST00000579847:exon4:c.T206C:p.L69P;ENSG00000133313:ENST00000583785:exon3:c.T206C:p.L69P;ENSG00000133313:ENST00000577600:exon5:c.T206C:p.L69P;ENSG00000133313:ENST00000580672:exon2:c.T152C:p.L51P;ENSG00000133313:ENST00000583216:exon4:c.T206C:p.L69P;ENSG00000133313:ENST00000324262:exon4:c.T206C:p.L69P;ENSG00000133313:ENST00000582589:exon4:c.T206C:p.L69P;ENSG00000133313:ENST00000584613:exon5:c.T206C:p.L69P;	0.0648160459818844	0.19
18	72173085	T	G	18	74505850	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.T206G:p.L69R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.T77G:p.L26R;ENSG00000133313:ENST00000581513:exon5:c.T206G:p.L69R;ENSG00000133313:ENST00000581272:exon4:c.T206G:p.L69R;ENSG00000133313:ENST00000583203:exon4:c.T323G:p.L108R;ENSG00000133313:ENST00000579847:exon4:c.T206G:p.L69R;ENSG00000133313:ENST00000583785:exon3:c.T206G:p.L69R;ENSG00000133313:ENST00000577600:exon5:c.T206G:p.L69R;ENSG00000133313:ENST00000580672:exon2:c.T152G:p.L51R;ENSG00000133313:ENST00000583216:exon4:c.T206G:p.L69R;ENSG00000133313:ENST00000324262:exon4:c.T206G:p.L69R;ENSG00000133313:ENST00000582589:exon4:c.T206G:p.L69R;ENSG00000133313:ENST00000584613:exon5:c.T206G:p.L69R;	0.0117136734310979	0.134
18	72173244	A	C	18	74506009	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.A365C:p.D122A;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.A236C:p.D79A;ENSG00000133313:ENST00000581513:exon5:c.A365C:p.D122A;ENSG00000133313:ENST00000581272:exon4:c.A365C:p.D122A;ENSG00000133313:ENST00000579847:exon4:c.A365C:p.D122A;ENSG00000133313:ENST00000583785:exon3:c.A365C:p.D122A;ENSG00000133313:ENST00000580672:exon2:c.A311C:p.D104A;ENSG00000133313:ENST00000583216:exon4:c.A365C:p.D122A;ENSG00000133313:ENST00000324262:exon4:c.A365C:p.D122A;ENSG00000133313:ENST00000582589:exon4:c.A365C:p.D122A;ENSG00000133313:ENST00000584613:exon5:c.A365C:p.D122A;	0.00715888932339706	0.124
18	72173244	A	G	18	74506009	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.A365G:p.D122G;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.A236G:p.D79G;ENSG00000133313:ENST00000581513:exon5:c.A365G:p.D122G;ENSG00000133313:ENST00000581272:exon4:c.A365G:p.D122G;ENSG00000133313:ENST00000579847:exon4:c.A365G:p.D122G;ENSG00000133313:ENST00000583785:exon3:c.A365G:p.D122G;ENSG00000133313:ENST00000580672:exon2:c.A311G:p.D104G;ENSG00000133313:ENST00000583216:exon4:c.A365G:p.D122G;ENSG00000133313:ENST00000324262:exon4:c.A365G:p.D122G;ENSG00000133313:ENST00000582589:exon4:c.A365G:p.D122G;ENSG00000133313:ENST00000584613:exon5:c.A365G:p.D122G;	0.0401723803645189	0.282
18	72173244	A	T	18	74506009	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.A365T:p.D122V;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.A236T:p.D79V;ENSG00000133313:ENST00000581513:exon5:c.A365T:p.D122V;ENSG00000133313:ENST00000581272:exon4:c.A365T:p.D122V;ENSG00000133313:ENST00000579847:exon4:c.A365T:p.D122V;ENSG00000133313:ENST00000583785:exon3:c.A365T:p.D122V;ENSG00000133313:ENST00000580672:exon2:c.A311T:p.D104V;ENSG00000133313:ENST00000583216:exon4:c.A365T:p.D122V;ENSG00000133313:ENST00000324262:exon4:c.A365T:p.D122V;ENSG00000133313:ENST00000582589:exon4:c.A365T:p.D122V;ENSG00000133313:ENST00000584613:exon5:c.A365T:p.D122V;	0.835061545003298	0.436
18	72173245	C	A	18	74506010	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.C366A:p.D122E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.C237A:p.D79E;ENSG00000133313:ENST00000581513:exon5:c.C366A:p.D122E;ENSG00000133313:ENST00000581272:exon4:c.C366A:p.D122E;ENSG00000133313:ENST00000579847:exon4:c.C366A:p.D122E;ENSG00000133313:ENST00000583785:exon3:c.C366A:p.D122E;ENSG00000133313:ENST00000580672:exon2:c.C312A:p.D104E;ENSG00000133313:ENST00000583216:exon4:c.C366A:p.D122E;ENSG00000133313:ENST00000324262:exon4:c.C366A:p.D122E;ENSG00000133313:ENST00000582589:exon4:c.C366A:p.D122E;ENSG00000133313:ENST00000584613:exon5:c.C366A:p.D122E;	7.80639155434703E-5	0.164
18	72173245	C	G	18	74506010	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.C366G:p.D122E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.C237G:p.D79E;ENSG00000133313:ENST00000581513:exon5:c.C366G:p.D122E;ENSG00000133313:ENST00000581272:exon4:c.C366G:p.D122E;ENSG00000133313:ENST00000579847:exon4:c.C366G:p.D122E;ENSG00000133313:ENST00000583785:exon3:c.C366G:p.D122E;ENSG00000133313:ENST00000580672:exon2:c.C312G:p.D104E;ENSG00000133313:ENST00000583216:exon4:c.C366G:p.D122E;ENSG00000133313:ENST00000324262:exon4:c.C366G:p.D122E;ENSG00000133313:ENST00000582589:exon4:c.C366G:p.D122E;ENSG00000133313:ENST00000584613:exon5:c.C366G:p.D122E;	6.89031604593848E-4	0.208
18	72173245	C	T	18	74506010	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon4:c.C366T:p.D122D;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.C237T:p.D79D;ENSG00000133313:ENST00000581513:exon5:c.C366T:p.D122D;ENSG00000133313:ENST00000581272:exon4:c.C366T:p.D122D;ENSG00000133313:ENST00000579847:exon4:c.C366T:p.D122D;ENSG00000133313:ENST00000583785:exon3:c.C366T:p.D122D;ENSG00000133313:ENST00000580672:exon2:c.C312T:p.D104D;ENSG00000133313:ENST00000583216:exon4:c.C366T:p.D122D;ENSG00000133313:ENST00000324262:exon4:c.C366T:p.D122D;ENSG00000133313:ENST00000582589:exon4:c.C366T:p.D122D;ENSG00000133313:ENST00000584613:exon5:c.C366T:p.D122D;	0.00103659815549189	0.022
18	72173246	G	A	18	74506011	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.G367A:p.G123S;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.G238A:p.G80S;ENSG00000133313:ENST00000581513:exon5:c.G367A:p.G123S;ENSG00000133313:ENST00000581272:exon4:c.G367A:p.G123S;ENSG00000133313:ENST00000579847:exon4:c.G367A:p.G123S;ENSG00000133313:ENST00000583785:exon3:c.G367A:p.G123S;ENSG00000133313:ENST00000580672:exon2:c.G313A:p.G105S;ENSG00000133313:ENST00000583216:exon4:c.G367A:p.G123S;ENSG00000133313:ENST00000324262:exon4:c.G367A:p.G123S;ENSG00000133313:ENST00000582589:exon4:c.G367A:p.G123S;	0.999917169354898	0.992
18	72173246	G	C	18	74506011	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.G367C:p.G123R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.G238C:p.G80R;ENSG00000133313:ENST00000581513:exon5:c.G367C:p.G123R;ENSG00000133313:ENST00000581272:exon4:c.G367C:p.G123R;ENSG00000133313:ENST00000579847:exon4:c.G367C:p.G123R;ENSG00000133313:ENST00000583785:exon3:c.G367C:p.G123R;ENSG00000133313:ENST00000580672:exon2:c.G313C:p.G105R;ENSG00000133313:ENST00000583216:exon4:c.G367C:p.G123R;ENSG00000133313:ENST00000324262:exon4:c.G367C:p.G123R;ENSG00000133313:ENST00000582589:exon4:c.G367C:p.G123R;	0.999972806827946	0.984
18	72173246	G	T	18	74506011	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon4:c.G367T:p.G123C;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon2:c.G238T:p.G80C;ENSG00000133313:ENST00000581513:exon5:c.G367T:p.G123C;ENSG00000133313:ENST00000581272:exon4:c.G367T:p.G123C;ENSG00000133313:ENST00000579847:exon4:c.G367T:p.G123C;ENSG00000133313:ENST00000583785:exon3:c.G367T:p.G123C;ENSG00000133313:ENST00000580672:exon2:c.G313T:p.G105C;ENSG00000133313:ENST00000583216:exon4:c.G367T:p.G123C;ENSG00000133313:ENST00000324262:exon4:c.G367T:p.G123C;ENSG00000133313:ENST00000582589:exon4:c.G367T:p.G123C;	0.999221181079564	0.946
18	72173247	G	A	18	74506012	y	y	splicing	CNDP2(NM_018235:exon4:c.367+1G>A)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.367+1G>A;ENST00000324262:exon4:c.367+1G>A;ENST00000580672:exon2:c.313+1G>A;ENST00000579847:exon4:c.367+1G>A;ENST00000582260:exon5:c.504+1G>A;ENST00000581513:exon5:c.367+1G>A;ENST00000583216:exon4:c.367+1G>A;ENST00000582589:exon4:c.367+1G>A;ENST00000583785:exon3:c.367+1G>A;ENST00000582666:exon2:c.238+1G>A)	.	.	0.999804640506577	0.78
18	72173247	G	C	18	74506012	y	y	splicing	CNDP2(NM_018235:exon4:c.367+1G>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.367+1G>C;ENST00000324262:exon4:c.367+1G>C;ENST00000580672:exon2:c.313+1G>C;ENST00000579847:exon4:c.367+1G>C;ENST00000582260:exon5:c.504+1G>C;ENST00000581513:exon5:c.367+1G>C;ENST00000583216:exon4:c.367+1G>C;ENST00000582589:exon4:c.367+1G>C;ENST00000583785:exon3:c.367+1G>C;ENST00000582666:exon2:c.238+1G>C)	.	.	0.999756112212427	0.776
18	72173247	G	T	18	74506012	y	y	splicing	CNDP2(NM_018235:exon4:c.367+1G>T)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.367+1G>T;ENST00000324262:exon4:c.367+1G>T;ENST00000580672:exon2:c.313+1G>T;ENST00000579847:exon4:c.367+1G>T;ENST00000582260:exon5:c.504+1G>T;ENST00000581513:exon5:c.367+1G>T;ENST00000583216:exon4:c.367+1G>T;ENST00000582589:exon4:c.367+1G>T;ENST00000583785:exon3:c.367+1G>T;ENST00000582666:exon2:c.238+1G>T)	.	.	0.999804640506577	0.776
18	72173248	T	A	18	74506013	y	y	splicing	CNDP2(NM_018235:exon4:c.367+2T>A)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.367+2T>A;ENST00000324262:exon4:c.367+2T>A;ENST00000580672:exon2:c.313+2T>A;ENST00000579847:exon4:c.367+2T>A;ENST00000582260:exon5:c.504+2T>A;ENST00000581513:exon5:c.367+2T>A;ENST00000583216:exon4:c.367+2T>A;ENST00000582589:exon4:c.367+2T>A;ENST00000583785:exon3:c.367+2T>A;ENST00000582666:exon2:c.238+2T>A)	.	.	0.999961168610083	0.932
18	72173248	T	C	18	74506013	y	y	splicing	CNDP2(NM_018235:exon4:c.367+2T>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.367+2T>C;ENST00000324262:exon4:c.367+2T>C;ENST00000580672:exon2:c.313+2T>C;ENST00000579847:exon4:c.367+2T>C;ENST00000582260:exon5:c.504+2T>C;ENST00000581513:exon5:c.367+2T>C;ENST00000583216:exon4:c.367+2T>C;ENST00000582589:exon4:c.367+2T>C;ENST00000583785:exon3:c.367+2T>C;ENST00000582666:exon2:c.238+2T>C)	.	.	0.999978463210872	0.958
18	72173248	T	G	18	74506013	y	y	splicing	CNDP2(NM_018235:exon4:c.367+2T>G)	.	.	splicing	ENSG00000133313(ENST00000581272:exon4:c.367+2T>G;ENST00000324262:exon4:c.367+2T>G;ENST00000580672:exon2:c.313+2T>G;ENST00000579847:exon4:c.367+2T>G;ENST00000582260:exon5:c.504+2T>G;ENST00000581513:exon5:c.367+2T>G;ENST00000583216:exon4:c.367+2T>G;ENST00000582589:exon4:c.367+2T>G;ENST00000583785:exon3:c.367+2T>G;ENST00000582666:exon2:c.238+2T>G)	.	.	0.999961168610083	0.932
18	72173249	G	A	18	74506014	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.26139324262717E-5	0.0
18	72173249	G	C	18	74506014	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.61229500576451	0.564
18	72173249	G	T	18	74506014	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.788307547299208	0.448
18	72173250	A	C	18	74506015	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.544122509306014	0.396
18	72173250	A	G	18	74506015	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.968154356574517	0.608
18	72173250	A	T	18	74506015	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.99180569042086	0.664
18	72173251	G	A	18	74506016	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999882430626729	0.934
18	72173251	G	C	18	74506016	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999907193464904	0.926
18	72173251	G	T	18	74506016	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999981306969244	0.992
18	72173252	C	A	18	74506017	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.02074901554607E-4	0.024
18	72173252	C	G	18	74506017	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.75476215579921E-4	0.032
18	72173252	C	T	18	74506017	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.5122284531638E-5	0.024
18	72173253	G	A	18	74506018	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.36411379079871E-5	0.0
18	72173253	G	C	18	74506018	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.3679303484631E-5	0.0
18	72173253	G	T	18	74506018	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.4980355002324E-5	0.0
18	72173254	C	A	18	74506019	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.03497362719706E-4	0.006
18	72173254	C	G	18	74506019	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.49556189541268E-4	0.004
18	72173254	C	T	18	74506019	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.72613902135066E-4	0.036
18	72176063	T	A	18	74508828	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0274885236314942	0.396
18	72176063	T	C	18	74508828	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00243453953787159	0.12
18	72176063	T	G	18	74508828	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999900441118549	0.978
18	72176064	T	A	18	74508829	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.998507803414112	0.904
18	72176064	T	C	18	74508829	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.64406872295629E-4	0.09
18	72176064	T	G	18	74508829	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.706887567570387	0.462
18	72176065	G	A	18	74508830	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.66795484470195E-4	0.05
18	72176065	G	C	18	74508830	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.82756918626462E-5	0.002
18	72176065	G	T	18	74508830	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.20091045968885E-5	0.012
18	72176066	C	A	18	74508831	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00145694002206264	0.06
18	72176066	C	G	18	74508831	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00175582035131483	0.084
18	72176066	C	T	18	74508831	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.77586182607296E-5	0.002
18	72176067	T	A	18	74508832	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.99975573689199	0.936
18	72176067	T	C	18	74508832	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.31182362399611E-4	0.022
18	72176067	T	G	18	74508832	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00215203823050723	0.144
18	72176068	G	A	18	74508833	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.98093655946516E-4	0.068
18	72176068	G	C	18	74508833	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.38832368786551E-5	0.002
18	72176068	G	T	18	74508833	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.38832368786551E-5	0.01
18	72176069	T	A	18	74508834	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.972717382623848	0.82
18	72176069	T	C	18	74508834	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00301009271237772	0.176
18	72176069	T	G	18	74508834	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.965278417000634	0.778
18	72176070	T	A	18	74508835	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.962557983460465	0.654
18	72176070	T	C	18	74508835	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0180744260429207	0.156
18	72176070	T	G	18	74508835	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.962686144898502	0.632
18	72176071	C	A	18	74508836	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.08125531581794E-4	0.058
18	72176071	C	G	18	74508836	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.86719950435454E-4	0.01
18	72176071	C	T	18	74508836	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.16891648634793E-5	0.018
18	72176072	T	A	18	74508837	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0518374193856982	0.414
18	72176072	T	C	18	74508837	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.17496989043822E-4	0.022
18	72176072	T	G	18	74508837	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.985357769292823	0.62
18	72176073	A	C	18	74508838	y	y	splicing	CNDP2(NM_018235:exon5:c.368-2A>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon5:c.368-2A>C;ENST00000324262:exon5:c.368-2A>C;ENST00000580672:exon3:c.314-2A>C;ENST00000579847:exon5:c.368-2A>C;ENST00000582260:exon6:c.505-2A>C;ENST00000581513:exon6:c.368-2A>C;ENST00000583216:exon5:c.368-2A>C;ENST00000582589:exon5:c.368-2A>C;ENST00000583785:exon4:c.368-2A>C;ENST00000582666:exon3:c.239-2A>C)	.	.	0.999966203349492	0.942
18	72176073	A	G	18	74508838	y	y	splicing	CNDP2(NM_018235:exon5:c.368-2A>G)	.	.	splicing	ENSG00000133313(ENST00000581272:exon5:c.368-2A>G;ENST00000324262:exon5:c.368-2A>G;ENST00000580672:exon3:c.314-2A>G;ENST00000579847:exon5:c.368-2A>G;ENST00000582260:exon6:c.505-2A>G;ENST00000581513:exon6:c.368-2A>G;ENST00000583216:exon5:c.368-2A>G;ENST00000582589:exon5:c.368-2A>G;ENST00000583785:exon4:c.368-2A>G;ENST00000582666:exon3:c.239-2A>G)	.	.	0.999966203349492	0.942
18	72176073	A	T	18	74508838	y	y	splicing	CNDP2(NM_018235:exon5:c.368-2A>T)	.	.	splicing	ENSG00000133313(ENST00000581272:exon5:c.368-2A>T;ENST00000324262:exon5:c.368-2A>T;ENST00000580672:exon3:c.314-2A>T;ENST00000579847:exon5:c.368-2A>T;ENST00000582260:exon6:c.505-2A>T;ENST00000581513:exon6:c.368-2A>T;ENST00000583216:exon5:c.368-2A>T;ENST00000582589:exon5:c.368-2A>T;ENST00000583785:exon4:c.368-2A>T;ENST00000582666:exon3:c.239-2A>T)	.	.	0.999966203349492	0.93
18	72176074	G	A	18	74508839	y	y	splicing	CNDP2(NM_018235:exon5:c.368-1G>A)	.	.	splicing	ENSG00000133313(ENST00000581272:exon5:c.368-1G>A;ENST00000324262:exon5:c.368-1G>A;ENST00000580672:exon3:c.314-1G>A;ENST00000579847:exon5:c.368-1G>A;ENST00000582260:exon6:c.505-1G>A;ENST00000581513:exon6:c.368-1G>A;ENST00000583216:exon5:c.368-1G>A;ENST00000582589:exon5:c.368-1G>A;ENST00000583785:exon4:c.368-1G>A;ENST00000582666:exon3:c.239-1G>A)	.	.	0.999985532734767	0.938
18	72176074	G	C	18	74508839	y	y	splicing	CNDP2(NM_018235:exon5:c.368-1G>C)	.	.	splicing	ENSG00000133313(ENST00000581272:exon5:c.368-1G>C;ENST00000324262:exon5:c.368-1G>C;ENST00000580672:exon3:c.314-1G>C;ENST00000579847:exon5:c.368-1G>C;ENST00000582260:exon6:c.505-1G>C;ENST00000581513:exon6:c.368-1G>C;ENST00000583216:exon5:c.368-1G>C;ENST00000582589:exon5:c.368-1G>C;ENST00000583785:exon4:c.368-1G>C;ENST00000582666:exon3:c.239-1G>C)	.	.	0.999974090184857	0.938
18	72176074	G	T	18	74508839	y	y	splicing	CNDP2(NM_018235:exon5:c.368-1G>T)	.	.	splicing	ENSG00000133313(ENST00000581272:exon5:c.368-1G>T;ENST00000324262:exon5:c.368-1G>T;ENST00000580672:exon3:c.314-1G>T;ENST00000579847:exon5:c.368-1G>T;ENST00000582260:exon6:c.505-1G>T;ENST00000581513:exon6:c.368-1G>T;ENST00000583216:exon5:c.368-1G>T;ENST00000582589:exon5:c.368-1G>T;ENST00000583785:exon4:c.368-1G>T;ENST00000582666:exon3:c.239-1G>T)	.	.	0.999985532734767	0.938
18	72176075	G	A	18	74508840	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.G368A:p.G123D;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon3:c.G239A:p.G80D;ENSG00000133313:ENST00000581513:exon6:c.G368A:p.G123D;ENSG00000133313:ENST00000581272:exon5:c.G368A:p.G123D;ENSG00000133313:ENST00000579847:exon5:c.G368A:p.G123D;ENSG00000133313:ENST00000583785:exon4:c.G368A:p.G123D;ENSG00000133313:ENST00000580672:exon3:c.G314A:p.G105D;ENSG00000133313:ENST00000583216:exon5:c.G368A:p.G123D;ENSG00000133313:ENST00000324262:exon5:c.G368A:p.G123D;ENSG00000133313:ENST00000582589:exon5:c.G368A:p.G123D;	0.999084473484124	0.894
18	72176075	G	C	18	74508840	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.G368C:p.G123A;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon3:c.G239C:p.G80A;ENSG00000133313:ENST00000581513:exon6:c.G368C:p.G123A;ENSG00000133313:ENST00000581272:exon5:c.G368C:p.G123A;ENSG00000133313:ENST00000579847:exon5:c.G368C:p.G123A;ENSG00000133313:ENST00000583785:exon4:c.G368C:p.G123A;ENSG00000133313:ENST00000580672:exon3:c.G314C:p.G105A;ENSG00000133313:ENST00000583216:exon5:c.G368C:p.G123A;ENSG00000133313:ENST00000324262:exon5:c.G368C:p.G123A;ENSG00000133313:ENST00000582589:exon5:c.G368C:p.G123A;	0.998837080397077	0.958
18	72176075	G	T	18	74508840	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.G368T:p.G123V;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000582666:exon3:c.G239T:p.G80V;ENSG00000133313:ENST00000581513:exon6:c.G368T:p.G123V;ENSG00000133313:ENST00000581272:exon5:c.G368T:p.G123V;ENSG00000133313:ENST00000579847:exon5:c.G368T:p.G123V;ENSG00000133313:ENST00000583785:exon4:c.G368T:p.G123V;ENSG00000133313:ENST00000580672:exon3:c.G314T:p.G105V;ENSG00000133313:ENST00000583216:exon5:c.G368T:p.G123V;ENSG00000133313:ENST00000324262:exon5:c.G368T:p.G123V;ENSG00000133313:ENST00000582589:exon5:c.G368T:p.G123V;	0.999410725432277	0.982
18	72176076	C	A	18	74508841	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon5:c.C369A:p.G123G;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000582666:exon3:c.C240A:p.G80G;ENSG00000133313:ENST00000581513:exon6:c.C369A:p.G123G;ENSG00000133313:ENST00000581272:exon5:c.C369A:p.G123G;ENSG00000133313:ENST00000579847:exon5:c.C369A:p.G123G;ENSG00000133313:ENST00000583785:exon4:c.C369A:p.G123G;ENSG00000133313:ENST00000580672:exon3:c.C315A:p.G105G;ENSG00000133313:ENST00000583216:exon5:c.C369A:p.G123G;ENSG00000133313:ENST00000324262:exon5:c.C369A:p.G123G;ENSG00000133313:ENST00000582589:exon5:c.C369A:p.G123G;	0.00165287245210482	0.048
18	72176076	C	G	18	74508841	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon5:c.C369G:p.G123G;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000582666:exon3:c.C240G:p.G80G;ENSG00000133313:ENST00000581513:exon6:c.C369G:p.G123G;ENSG00000133313:ENST00000581272:exon5:c.C369G:p.G123G;ENSG00000133313:ENST00000579847:exon5:c.C369G:p.G123G;ENSG00000133313:ENST00000583785:exon4:c.C369G:p.G123G;ENSG00000133313:ENST00000580672:exon3:c.C315G:p.G105G;ENSG00000133313:ENST00000583216:exon5:c.C369G:p.G123G;ENSG00000133313:ENST00000324262:exon5:c.C369G:p.G123G;ENSG00000133313:ENST00000582589:exon5:c.C369G:p.G123G;	8.78652826889401E-4	0.04
18	72176076	C	T	18	74508841	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon5:c.C369T:p.G123G;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000582666:exon3:c.C240T:p.G80G;ENSG00000133313:ENST00000581513:exon6:c.C369T:p.G123G;ENSG00000133313:ENST00000581272:exon5:c.C369T:p.G123G;ENSG00000133313:ENST00000579847:exon5:c.C369T:p.G123G;ENSG00000133313:ENST00000583785:exon4:c.C369T:p.G123G;ENSG00000133313:ENST00000580672:exon3:c.C315T:p.G105G;ENSG00000133313:ENST00000583216:exon5:c.C369T:p.G123G;ENSG00000133313:ENST00000324262:exon5:c.C369T:p.G123G;ENSG00000133313:ENST00000582589:exon5:c.C369T:p.G123G;	0.0015650828220867	0.036
18	72176161	C	A	18	74508926	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.C454A:p.Q152K;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon5:c.C454A:p.Q152K;ENSG00000133313:ENST00000583785:exon4:c.C454A:p.Q152K;ENSG00000133313:ENST00000580672:exon3:c.C400A:p.Q134K;ENSG00000133313:ENST00000324262:exon5:c.C454A:p.Q152K;	0.00635446248576936	0.1
18	72176161	C	G	18	74508926	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.C454G:p.Q152E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon5:c.C454G:p.Q152E;ENSG00000133313:ENST00000583785:exon4:c.C454G:p.Q152E;ENSG00000133313:ENST00000580672:exon3:c.C400G:p.Q134E;ENSG00000133313:ENST00000324262:exon5:c.C454G:p.Q152E;	0.00219674242518667	0.112
18	72176161	C	T	18	74508926	y	y	exonic	CNDP2	stopgain SNV	CNDP2:NM_018235:exon5:c.C454T:p.Q152X;	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000579847:exon5:c.C454T:p.Q152X;ENSG00000133313:ENST00000583785:exon4:c.C454T:p.Q152X;ENSG00000133313:ENST00000580672:exon3:c.C400T:p.Q134X;ENSG00000133313:ENST00000324262:exon5:c.C454T:p.Q152X;	0.99696596020753	0.93
18	72176162	A	C	18	74508927	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.A455C:p.Q152P;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon5:c.A455C:p.Q152P;ENSG00000133313:ENST00000583785:exon4:c.A455C:p.Q152P;ENSG00000133313:ENST00000580672:exon3:c.A401C:p.Q134P;ENSG00000133313:ENST00000324262:exon5:c.A455C:p.Q152P;	0.842188197268413	0.636
18	72176162	A	G	18	74508927	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.A455G:p.Q152R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon5:c.A455G:p.Q152R;ENSG00000133313:ENST00000583785:exon4:c.A455G:p.Q152R;ENSG00000133313:ENST00000580672:exon3:c.A401G:p.Q134R;ENSG00000133313:ENST00000324262:exon5:c.A455G:p.Q152R;	0.907692633599365	0.744
18	72176162	A	T	18	74508927	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.A455T:p.Q152L;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon5:c.A455T:p.Q152L;ENSG00000133313:ENST00000583785:exon4:c.A455T:p.Q152L;ENSG00000133313:ENST00000580672:exon3:c.A401T:p.Q134L;ENSG00000133313:ENST00000324262:exon5:c.A455T:p.Q152L;	0.985149754808682	0.866
18	72176163	G	A	18	74508928	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon5:c.G456A:p.Q152Q;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon5:c.G456A:p.Q152Q;ENSG00000133313:ENST00000583785:exon4:c.G456A:p.Q152Q;ENSG00000133313:ENST00000580672:exon3:c.G402A:p.Q134Q;ENSG00000133313:ENST00000324262:exon5:c.G456A:p.Q152Q;	0.999790829238922	0.946
18	72176163	G	C	18	74508928	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.G456C:p.Q152H;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon5:c.G456C:p.Q152H;ENSG00000133313:ENST00000583785:exon4:c.G456C:p.Q152H;ENSG00000133313:ENST00000580672:exon3:c.G402C:p.Q134H;ENSG00000133313:ENST00000324262:exon5:c.G456C:p.Q152H;	0.999979139484014	0.926
18	72176163	G	T	18	74508928	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon5:c.G456T:p.Q152H;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon5:c.G456T:p.Q152H;ENSG00000133313:ENST00000583785:exon4:c.G456T:p.Q152H;ENSG00000133313:ENST00000580672:exon3:c.G402T:p.Q134H;ENSG00000133313:ENST00000324262:exon5:c.G456T:p.Q152H;	0.999692308962126	0.906
18	72176164	G	A	18	74508929	y	y	splicing	CNDP2(NM_018235:exon5:c.456+1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon5:c.456+1G>A;ENST00000580672:exon3:c.402+1G>A;ENST00000579847:exon5:c.456+1G>A;ENST00000583785:exon4:c.456+1G>A)	.	.	0.999938990645747	0.946
18	72176164	G	C	18	74508929	y	y	splicing	CNDP2(NM_018235:exon5:c.456+1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon5:c.456+1G>C;ENST00000580672:exon3:c.402+1G>C;ENST00000579847:exon5:c.456+1G>C;ENST00000583785:exon4:c.456+1G>C)	.	.	0.999960200702261	0.938
18	72176164	G	T	18	74508929	y	y	splicing	CNDP2(NM_018235:exon5:c.456+1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon5:c.456+1G>T;ENST00000580672:exon3:c.402+1G>T;ENST00000579847:exon5:c.456+1G>T;ENST00000583785:exon4:c.456+1G>T)	.	.	0.999938990645747	0.94
18	72176165	T	A	18	74508930	y	y	splicing	CNDP2(NM_018235:exon5:c.456+2T>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon5:c.456+2T>A;ENST00000580672:exon3:c.402+2T>A;ENST00000579847:exon5:c.456+2T>A;ENST00000583785:exon4:c.456+2T>A)	.	.	0.999978156327223	0.934
18	72176165	T	C	18	74508930	y	y	splicing	CNDP2(NM_018235:exon5:c.456+2T>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon5:c.456+2T>C;ENST00000580672:exon3:c.402+2T>C;ENST00000579847:exon5:c.456+2T>C;ENST00000583785:exon4:c.456+2T>C)	.	.	0.977893172302958	0.576
18	72176165	T	G	18	74508930	y	y	splicing	CNDP2(NM_018235:exon5:c.456+2T>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon5:c.456+2T>G;ENST00000580672:exon3:c.402+2T>G;ENST00000579847:exon5:c.456+2T>G;ENST00000583785:exon4:c.456+2T>G)	.	.	0.99997739437695	0.928
18	72176166	A	C	18	74508931	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.998205085350947	0.788
18	72176166	A	G	18	74508931	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.459524323172225	0.52
18	72176166	A	T	18	74508931	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.998046193344368	0.766
18	72176167	T	A	18	74508932	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.08118348905238E-5	0.016
18	72176167	T	C	18	74508932	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.44705269443353E-5	0.0
18	72176167	T	G	18	74508932	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.35317025364523E-5	0.004
18	72176168	G	A	18	74508933	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.486470864038164	0.488
18	72176168	G	C	18	74508933	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.707013656850667	0.514
18	72176168	G	T	18	74508933	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.948959641410919	0.594
18	72176169	C	A	18	74508934	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.32669174041343E-4	0.0
18	72176169	C	G	18	74508934	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.61327061510515E-5	0.012
18	72176169	C	T	18	74508934	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.80248286061925E-5	0.002
18	72176170	C	A	18	74508935	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.79310572903282E-5	0.0
18	72176170	C	G	18	74508935	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.3200200820218E-5	0.0
18	72176170	C	T	18	74508935	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.14691560037148E-4	0.0
18	72176171	C	A	18	74508936	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.2127747562199E-5	0.0
18	72176171	C	G	18	74508936	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.64074187744006E-5	0.0
18	72176171	C	T	18	74508936	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.2127747562199E-5	0.0
18	72178036	C	A	18	74510801	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.5556303057549E-4	0.024
18	72178036	C	G	18	74510801	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.14926651612987E-4	0.034
18	72178036	C	T	18	74510801	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.7745325466541E-5	0.0
18	72178037	C	A	18	74510802	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.74162104632183E-4	0.066
18	72178037	C	G	18	74510802	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.29253684495163E-4	0.096
18	72178037	C	T	18	74510802	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.97450618922008E-5	0.008
18	72178038	C	A	18	74510803	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.11941667023223E-4	0.012
18	72178038	C	G	18	74510803	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.18857614585617E-4	0.006
18	72178038	C	T	18	74510803	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.07191032495808E-5	0.0
18	72178039	T	A	18	74510804	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00440526392628128	0.074
18	72178039	T	C	18	74510804	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.90918428776332E-4	0.004
18	72178039	T	G	18	74510804	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00264993058212235	0.086
18	72178040	T	A	18	74510805	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.44183716855254E-4	0.048
18	72178040	T	C	18	74510805	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.23208404235647E-5	0.0
18	72178040	T	G	18	74510805	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.85096411157629E-4	0.062
18	72178041	C	A	18	74510806	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00236102234857411	0.094
18	72178041	C	G	18	74510806	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00169849400430843	0.132
18	72178041	C	T	18	74510806	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.00105191809507E-5	0.0
18	72178042	T	A	18	74510807	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.84554456722479E-4	0.028
18	72178042	T	C	18	74510807	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.43830620074846E-5	0.0
18	72178042	T	G	18	74510807	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.73532821926371E-4	0.034
18	72178043	C	A	18	74510808	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.13217019897828E-4	0.078
18	72178043	C	G	18	74510808	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0013549683547788	0.096
18	72178043	C	T	18	74510808	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.72776893692371E-5	0.0
18	72178044	A	C	18	74510809	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.45839677110608E-5	0.006
18	72178044	A	G	18	74510809	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.05709447462961E-5	0.004
18	72178044	A	T	18	74510809	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.92866174788747E-5	0.008
18	72178045	C	A	18	74510810	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.524203659802747	0.552
18	72178045	C	G	18	74510810	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.998743402315987	0.918
18	72178045	C	T	18	74510810	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00166199093502969	0.036
18	72178046	A	C	18	74510811	y	y	splicing	CNDP2(NM_018235:exon6:c.457-2A>C;NM_001168499:exon3:c.205-2A>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.457-2A>C;ENST00000580672:exon4:c.403-2A>C;ENST00000579847:exon6:c.457-2A>C;ENST00000579583:exon4:c.205-2A>C;ENST00000583785:exon5:c.457-2A>C;ENST00000324301:exon3:c.205-2A>C)	.	.	0.999893588078984	0.866
18	72178046	A	G	18	74510811	y	y	splicing	CNDP2(NM_018235:exon6:c.457-2A>G;NM_001168499:exon3:c.205-2A>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.457-2A>G;ENST00000580672:exon4:c.403-2A>G;ENST00000579847:exon6:c.457-2A>G;ENST00000579583:exon4:c.205-2A>G;ENST00000583785:exon5:c.457-2A>G;ENST00000324301:exon3:c.205-2A>G)	.	.	0.999893588078984	0.866
18	72178046	A	T	18	74510811	y	y	splicing	CNDP2(NM_018235:exon6:c.457-2A>T;NM_001168499:exon3:c.205-2A>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.457-2A>T;ENST00000580672:exon4:c.403-2A>T;ENST00000579847:exon6:c.457-2A>T;ENST00000579583:exon4:c.205-2A>T;ENST00000583785:exon5:c.457-2A>T;ENST00000324301:exon3:c.205-2A>T)	.	.	0.999903621866699	0.858
18	72178047	G	A	18	74510812	y	y	splicing	CNDP2(NM_018235:exon6:c.457-1G>A;NM_001168499:exon3:c.205-1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.457-1G>A;ENST00000580672:exon4:c.403-1G>A;ENST00000579847:exon6:c.457-1G>A;ENST00000579583:exon4:c.205-1G>A;ENST00000583785:exon5:c.457-1G>A;ENST00000324301:exon3:c.205-1G>A)	.	.	0.999972300204905	0.904
18	72178047	G	C	18	74510812	y	y	splicing	CNDP2(NM_018235:exon6:c.457-1G>C;NM_001168499:exon3:c.205-1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.457-1G>C;ENST00000580672:exon4:c.403-1G>C;ENST00000579847:exon6:c.457-1G>C;ENST00000579583:exon4:c.205-1G>C;ENST00000583785:exon5:c.457-1G>C;ENST00000324301:exon3:c.205-1G>C)	.	.	0.999957897063701	0.89
18	72178047	G	T	18	74510812	y	y	splicing	CNDP2(NM_018235:exon6:c.457-1G>T;NM_001168499:exon3:c.205-1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.457-1G>T;ENST00000580672:exon4:c.403-1G>T;ENST00000579847:exon6:c.457-1G>T;ENST00000579583:exon4:c.205-1G>T;ENST00000583785:exon5:c.457-1G>T;ENST00000324301:exon3:c.205-1G>T)	.	.	0.999972300204905	0.902
18	72178048	G	A	18	74510813	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.G457A:p.E153K;CNDP2:NM_001168499:exon3:c.G205A:p.E69K;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.G457A:p.E153K;ENSG00000133313:ENST00000583785:exon5:c.G457A:p.E153K;ENSG00000133313:ENST00000580672:exon4:c.G403A:p.E135K;ENSG00000133313:ENST00000579583:exon4:c.G205A:p.E69K;ENSG00000133313:ENST00000324262:exon6:c.G457A:p.E153K;ENSG00000133313:ENST00000324301:exon3:c.G205A:p.E69K;	0.10911217197692	0.372
18	72178048	G	C	18	74510813	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.G457C:p.E153Q;CNDP2:NM_001168499:exon3:c.G205C:p.E69Q;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.G457C:p.E153Q;ENSG00000133313:ENST00000583785:exon5:c.G457C:p.E153Q;ENSG00000133313:ENST00000580672:exon4:c.G403C:p.E135Q;ENSG00000133313:ENST00000579583:exon4:c.G205C:p.E69Q;ENSG00000133313:ENST00000324262:exon6:c.G457C:p.E153Q;ENSG00000133313:ENST00000324301:exon3:c.G205C:p.E69Q;	0.812711171464592	0.708
18	72178048	G	T	18	74510813	y	y	exonic	CNDP2	stopgain SNV	CNDP2:NM_018235:exon6:c.G457T:p.E153X;CNDP2:NM_001168499:exon3:c.G205T:p.E69X;	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000579847:exon6:c.G457T:p.E153X;ENSG00000133313:ENST00000583785:exon5:c.G457T:p.E153X;ENSG00000133313:ENST00000580672:exon4:c.G403T:p.E135X;ENSG00000133313:ENST00000579583:exon4:c.G205T:p.E69X;ENSG00000133313:ENST00000324262:exon6:c.G457T:p.E153X;ENSG00000133313:ENST00000324301:exon3:c.G205T:p.E69X;	0.998575021155702	0.976
18	72178049	A	C	18	74510814	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.A458C:p.E153A;CNDP2:NM_001168499:exon3:c.A206C:p.E69A;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.A458C:p.E153A;ENSG00000133313:ENST00000583785:exon5:c.A458C:p.E153A;ENSG00000133313:ENST00000580672:exon4:c.A404C:p.E135A;ENSG00000133313:ENST00000579583:exon4:c.A206C:p.E69A;ENSG00000133313:ENST00000324262:exon6:c.A458C:p.E153A;ENSG00000133313:ENST00000324301:exon3:c.A206C:p.E69A;	0.00602941445785126	0.03
18	72178049	A	G	18	74510814	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.A458G:p.E153G;CNDP2:NM_001168499:exon3:c.A206G:p.E69G;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.A458G:p.E153G;ENSG00000133313:ENST00000583785:exon5:c.A458G:p.E153G;ENSG00000133313:ENST00000580672:exon4:c.A404G:p.E135G;ENSG00000133313:ENST00000579583:exon4:c.A206G:p.E69G;ENSG00000133313:ENST00000324262:exon6:c.A458G:p.E153G;ENSG00000133313:ENST00000324301:exon3:c.A206G:p.E69G;	0.00868199580859148	0.032
18	72178049	A	T	18	74510814	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.A458T:p.E153V;CNDP2:NM_001168499:exon3:c.A206T:p.E69V;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.A458T:p.E153V;ENSG00000133313:ENST00000583785:exon5:c.A458T:p.E153V;ENSG00000133313:ENST00000580672:exon4:c.A404T:p.E135V;ENSG00000133313:ENST00000579583:exon4:c.A206T:p.E69V;ENSG00000133313:ENST00000324262:exon6:c.A458T:p.E153V;ENSG00000133313:ENST00000324301:exon3:c.A206T:p.E69V;	0.00331333545606868	0.018
18	72178246	G	A	18	74511011	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.G655A:p.E219K;CNDP2:NM_001168499:exon3:c.G403A:p.E135K;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.G655A:p.E219K;ENSG00000133313:ENST00000583785:exon5:c.G655A:p.E219K;ENSG00000133313:ENST00000580672:exon4:c.G601A:p.E201K;ENSG00000133313:ENST00000579624:exon1:c.G136A:p.E46K;ENSG00000133313:ENST00000579583:exon4:c.G403A:p.E135K;ENSG00000133313:ENST00000324262:exon6:c.G655A:p.E219K;ENSG00000133313:ENST00000324301:exon3:c.G403A:p.E135K;	0.949114543337164	0.754
18	72178246	G	C	18	74511011	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.G655C:p.E219Q;CNDP2:NM_001168499:exon3:c.G403C:p.E135Q;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.G655C:p.E219Q;ENSG00000133313:ENST00000583785:exon5:c.G655C:p.E219Q;ENSG00000133313:ENST00000580672:exon4:c.G601C:p.E201Q;ENSG00000133313:ENST00000579624:exon1:c.G136C:p.E46Q;ENSG00000133313:ENST00000579583:exon4:c.G403C:p.E135Q;ENSG00000133313:ENST00000324262:exon6:c.G655C:p.E219Q;ENSG00000133313:ENST00000324301:exon3:c.G403C:p.E135Q;	0.954883045493796	0.692
18	72178246	G	T	18	74511011	y	y	exonic	CNDP2	stopgain SNV	CNDP2:NM_018235:exon6:c.G655T:p.E219X;CNDP2:NM_001168499:exon3:c.G403T:p.E135X;	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000579847:exon6:c.G655T:p.E219X;ENSG00000133313:ENST00000583785:exon5:c.G655T:p.E219X;ENSG00000133313:ENST00000580672:exon4:c.G601T:p.E201X;ENSG00000133313:ENST00000579624:exon1:c.G136T:p.E46X;ENSG00000133313:ENST00000579583:exon4:c.G403T:p.E135X;ENSG00000133313:ENST00000324262:exon6:c.G655T:p.E219X;ENSG00000133313:ENST00000324301:exon3:c.G403T:p.E135X;	0.992346168657665	0.812
18	72178247	A	C	18	74511012	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.A656C:p.E219A;CNDP2:NM_001168499:exon3:c.A404C:p.E135A;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.A656C:p.E219A;ENSG00000133313:ENST00000583785:exon5:c.A656C:p.E219A;ENSG00000133313:ENST00000580672:exon4:c.A602C:p.E201A;ENSG00000133313:ENST00000579624:exon1:c.A137C:p.E46A;ENSG00000133313:ENST00000579583:exon4:c.A404C:p.E135A;ENSG00000133313:ENST00000324262:exon6:c.A656C:p.E219A;ENSG00000133313:ENST00000324301:exon3:c.A404C:p.E135A;	0.999674114682387	0.996
18	72178247	A	G	18	74511012	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.A656G:p.E219G;CNDP2:NM_001168499:exon3:c.A404G:p.E135G;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.A656G:p.E219G;ENSG00000133313:ENST00000583785:exon5:c.A656G:p.E219G;ENSG00000133313:ENST00000580672:exon4:c.A602G:p.E201G;ENSG00000133313:ENST00000579624:exon1:c.A137G:p.E46G;ENSG00000133313:ENST00000579583:exon4:c.A404G:p.E135G;ENSG00000133313:ENST00000324262:exon6:c.A656G:p.E219G;ENSG00000133313:ENST00000324301:exon3:c.A404G:p.E135G;	0.999897274009108	0.998
18	72178247	A	T	18	74511012	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.A656T:p.E219V;CNDP2:NM_001168499:exon3:c.A404T:p.E135V;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.A656T:p.E219V;ENSG00000133313:ENST00000583785:exon5:c.A656T:p.E219V;ENSG00000133313:ENST00000580672:exon4:c.A602T:p.E201V;ENSG00000133313:ENST00000579624:exon1:c.A137T:p.E46V;ENSG00000133313:ENST00000579583:exon4:c.A404T:p.E135V;ENSG00000133313:ENST00000324262:exon6:c.A656T:p.E219V;ENSG00000133313:ENST00000324301:exon3:c.A404T:p.E135V;	0.999921034953513	0.998
18	72178248	G	A	18	74511013	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon6:c.G657A:p.E219E;CNDP2:NM_001168499:exon3:c.G405A:p.E135E;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.G657A:p.E219E;ENSG00000133313:ENST00000583785:exon5:c.G657A:p.E219E;ENSG00000133313:ENST00000580672:exon4:c.G603A:p.E201E;ENSG00000133313:ENST00000579624:exon1:c.G138A:p.E46E;ENSG00000133313:ENST00000579583:exon4:c.G405A:p.E135E;ENSG00000133313:ENST00000324262:exon6:c.G657A:p.E219E;ENSG00000133313:ENST00000324301:exon3:c.G405A:p.E135E;	0.999993220319338	1.0
18	72178248	G	C	18	74511013	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.G657C:p.E219D;CNDP2:NM_001168499:exon3:c.G405C:p.E135D;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.G657C:p.E219D;ENSG00000133313:ENST00000583785:exon5:c.G657C:p.E219D;ENSG00000133313:ENST00000580672:exon4:c.G603C:p.E201D;ENSG00000133313:ENST00000579624:exon1:c.G138C:p.E46D;ENSG00000133313:ENST00000579583:exon4:c.G405C:p.E135D;ENSG00000133313:ENST00000324262:exon6:c.G657C:p.E219D;ENSG00000133313:ENST00000324301:exon3:c.G405C:p.E135D;	0.999994977036924	1.0
18	72178248	G	T	18	74511013	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon6:c.G657T:p.E219D;CNDP2:NM_001168499:exon3:c.G405T:p.E135D;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon6:c.G657T:p.E219D;ENSG00000133313:ENST00000583785:exon5:c.G657T:p.E219D;ENSG00000133313:ENST00000580672:exon4:c.G603T:p.E201D;ENSG00000133313:ENST00000579624:exon1:c.G138T:p.E46D;ENSG00000133313:ENST00000579583:exon4:c.G405T:p.E135D;ENSG00000133313:ENST00000324262:exon6:c.G657T:p.E219D;ENSG00000133313:ENST00000324301:exon3:c.G405T:p.E135D;	0.999988998768196	0.988
18	72178249	G	A	18	74511014	y	y	splicing	CNDP2(NM_018235:exon6:c.657+1G>A;NM_001168499:exon3:c.405+1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.657+1G>A;ENST00000580672:exon4:c.603+1G>A;ENST00000579847:exon6:c.657+1G>A;ENST00000579583:exon4:c.405+1G>A;ENST00000583785:exon5:c.657+1G>A;ENST00000324301:exon3:c.405+1G>A;ENST00000579624:exon1:c.138+1G>A)	.	.	0.999993148181228	0.93
18	72178249	G	C	18	74511014	y	y	splicing	CNDP2(NM_018235:exon6:c.657+1G>C;NM_001168499:exon3:c.405+1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.657+1G>C;ENST00000580672:exon4:c.603+1G>C;ENST00000579847:exon6:c.657+1G>C;ENST00000579583:exon4:c.405+1G>C;ENST00000583785:exon5:c.657+1G>C;ENST00000324301:exon3:c.405+1G>C;ENST00000579624:exon1:c.138+1G>C)	.	.	0.999993148181228	0.918
18	72178249	G	T	18	74511014	y	y	splicing	CNDP2(NM_018235:exon6:c.657+1G>T;NM_001168499:exon3:c.405+1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.657+1G>T;ENST00000580672:exon4:c.603+1G>T;ENST00000579847:exon6:c.657+1G>T;ENST00000579583:exon4:c.405+1G>T;ENST00000583785:exon5:c.657+1G>T;ENST00000324301:exon3:c.405+1G>T;ENST00000579624:exon1:c.138+1G>T)	.	.	0.999993148181228	0.93
18	72178250	T	A	18	74511015	y	y	splicing	CNDP2(NM_018235:exon6:c.657+2T>A;NM_001168499:exon3:c.405+2T>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.657+2T>A;ENST00000580672:exon4:c.603+2T>A;ENST00000579847:exon6:c.657+2T>A;ENST00000579583:exon4:c.405+2T>A;ENST00000583785:exon5:c.657+2T>A;ENST00000324301:exon3:c.405+2T>A;ENST00000579624:exon1:c.138+2T>A)	.	.	0.999988247793601	0.928
18	72178250	T	C	18	74511015	y	y	splicing	CNDP2(NM_018235:exon6:c.657+2T>C;NM_001168499:exon3:c.405+2T>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.657+2T>C;ENST00000580672:exon4:c.603+2T>C;ENST00000579847:exon6:c.657+2T>C;ENST00000579583:exon4:c.405+2T>C;ENST00000583785:exon5:c.657+2T>C;ENST00000324301:exon3:c.405+2T>C;ENST00000579624:exon1:c.138+2T>C)	.	.	0.991245725732999	0.654
18	72178250	T	G	18	74511015	y	y	splicing	CNDP2(NM_018235:exon6:c.657+2T>G;NM_001168499:exon3:c.405+2T>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon6:c.657+2T>G;ENST00000580672:exon4:c.603+2T>G;ENST00000579847:exon6:c.657+2T>G;ENST00000579583:exon4:c.405+2T>G;ENST00000583785:exon5:c.657+2T>G;ENST00000324301:exon3:c.405+2T>G;ENST00000579624:exon1:c.138+2T>G)	.	.	0.999988247793601	0.928
18	72178251	A	C	18	74511016	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999523461563212	0.736
18	72178251	A	G	18	74511016	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.806985243620003	0.518
18	72178251	A	T	18	74511016	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999523461563212	0.76
18	72178252	C	A	18	74511017	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.91271234414624E-5	0.042
18	72178252	C	G	18	74511017	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.22571297554519E-4	0.124
18	72178252	C	T	18	74511017	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.97953774233671E-5	0.088
18	72178253	A	C	18	74511018	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.81659143900541E-5	0.012
18	72178253	A	G	18	74511018	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.41219503641414E-5	0.024
18	72178253	A	T	18	74511018	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.19361543554909E-4	0.004
18	72178254	G	A	18	74511019	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.78783623203035E-4	0.01
18	72178254	G	C	18	74511019	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.47558754155794E-4	0.008
18	72178254	G	T	18	74511019	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.24099963622724E-4	0.028
18	72178255	T	A	18	74511020	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.09452580200702E-4	0.01
18	72178255	T	C	18	74511020	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.79287789866486E-5	0.002
18	72178255	T	G	18	74511020	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.53397514882839E-5	0.0
18	72178256	G	A	18	74511021	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.00039005654946E-4	0.0
18	72178256	G	C	18	74511021	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.89790364695092E-5	0.0
18	72178256	G	T	18	74511021	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.89790364695092E-5	0.0
18	72179671	G	A	18	74512436	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.27722917960485E-4	0.016
18	72179671	G	C	18	74512436	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.71987752148259E-5	0.002
18	72179671	G	T	18	74512436	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.82870328924501E-5	0.0
18	72179672	T	A	18	74512437	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.656493738798568	0.5
18	72179672	T	C	18	74512437	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0248175250453148	0.128
18	72179672	T	G	18	74512437	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.69750953448482	0.514
18	72179673	T	A	18	74512438	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0171413808410572	0.324
18	72179673	T	C	18	74512438	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.09158861061082E-5	0.002
18	72179673	T	G	18	74512438	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0038175307919183	0.256
18	72179674	T	A	18	74512439	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00225035805219554	0.08
18	72179674	T	C	18	74512439	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.91757030532589E-5	0.002
18	72179674	T	G	18	74512439	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00234281563304976	0.066
18	72179675	C	A	18	74512440	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.7590690810124E-4	0.038
18	72179675	C	G	18	74512440	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.52609042873717E-4	0.008
18	72179675	C	T	18	74512440	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.50347316655438E-5	0.0
18	72179676	C	A	18	74512441	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.99811566701187	0.96
18	72179676	C	G	18	74512441	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.57100952167673E-4	0.024
18	72179676	C	T	18	74512441	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.90906195379427E-5	0.0
18	72179677	G	A	18	74512442	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.57966391631852E-5	0.004
18	72179677	G	C	18	74512442	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.66602122352025E-6	0.002
18	72179677	G	T	18	74512442	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.31378247454735E-5	0.0
18	72179678	T	A	18	74512443	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.981069752881018	0.706
18	72179678	T	C	18	74512443	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.22102642207299E-4	0.002
18	72179678	T	G	18	74512443	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.127834974900143	0.352
18	72179679	G	A	18	74512444	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.46826730383416E-5	0.0
18	72179679	G	C	18	74512444	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.90888224414354E-5	0.01
18	72179679	G	T	18	74512444	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.18562064557903E-5	0.0
18	72179680	C	A	18	74512445	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.986321194720245	0.736
18	72179680	C	G	18	74512445	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999316228410803	0.952
18	72179680	C	T	18	74512445	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0244378985575473	0.166
18	72179681	A	C	18	74512446	y	y	splicing	CNDP2(NM_018235:exon7:c.658-2A>C;NM_001168499:exon4:c.406-2A>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.658-2A>C;ENST00000580672:exon5:c.604-2A>C;ENST00000579847:exon7:c.658-2A>C;ENST00000579583:exon5:c.406-2A>C;ENST00000583785:exon6:c.658-2A>C;ENST00000324301:exon4:c.406-2A>C;ENST00000579624:exon2:c.139-2A>C)	.	.	0.999989917668626	0.926
18	72179681	A	G	18	74512446	y	y	splicing	CNDP2(NM_018235:exon7:c.658-2A>G;NM_001168499:exon4:c.406-2A>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.658-2A>G;ENST00000580672:exon5:c.604-2A>G;ENST00000579847:exon7:c.658-2A>G;ENST00000579583:exon5:c.406-2A>G;ENST00000583785:exon6:c.658-2A>G;ENST00000324301:exon4:c.406-2A>G;ENST00000579624:exon2:c.139-2A>G)	.	.	0.999989917668626	0.926
18	72179681	A	T	18	74512446	y	y	splicing	CNDP2(NM_018235:exon7:c.658-2A>T;NM_001168499:exon4:c.406-2A>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.658-2A>T;ENST00000580672:exon5:c.604-2A>T;ENST00000579847:exon7:c.658-2A>T;ENST00000579583:exon5:c.406-2A>T;ENST00000583785:exon6:c.658-2A>T;ENST00000324301:exon4:c.406-2A>T;ENST00000579624:exon2:c.139-2A>T)	.	.	0.999989917668626	0.926
18	72179682	G	A	18	74512447	y	y	splicing	CNDP2(NM_018235:exon7:c.658-1G>A;NM_001168499:exon4:c.406-1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.658-1G>A;ENST00000580672:exon5:c.604-1G>A;ENST00000579847:exon7:c.658-1G>A;ENST00000579583:exon5:c.406-1G>A;ENST00000583785:exon6:c.658-1G>A;ENST00000324301:exon4:c.406-1G>A;ENST00000579624:exon2:c.139-1G>A)	.	.	0.999981760802075	0.938
18	72179682	G	C	18	74512447	y	y	splicing	CNDP2(NM_018235:exon7:c.658-1G>C;NM_001168499:exon4:c.406-1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.658-1G>C;ENST00000580672:exon5:c.604-1G>C;ENST00000579847:exon7:c.658-1G>C;ENST00000579583:exon5:c.406-1G>C;ENST00000583785:exon6:c.658-1G>C;ENST00000324301:exon4:c.406-1G>C;ENST00000579624:exon2:c.139-1G>C)	.	.	0.999981760802075	0.938
18	72179682	G	T	18	74512447	y	y	splicing	CNDP2(NM_018235:exon7:c.658-1G>T;NM_001168499:exon4:c.406-1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.658-1G>T;ENST00000580672:exon5:c.604-1G>T;ENST00000579847:exon7:c.658-1G>T;ENST00000579583:exon5:c.406-1G>T;ENST00000583785:exon6:c.658-1G>T;ENST00000324301:exon4:c.406-1G>T;ENST00000579624:exon2:c.139-1G>T)	.	.	0.999981760802075	0.938
18	72179683	G	A	18	74512448	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G658A:p.V220M;CNDP2:NM_001168499:exon4:c.G406A:p.V136M;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G658A:p.V220M;ENSG00000133313:ENST00000583785:exon6:c.G658A:p.V220M;ENSG00000133313:ENST00000580672:exon5:c.G604A:p.V202M;ENSG00000133313:ENST00000579624:exon2:c.G139A:p.V47M;ENSG00000133313:ENST00000579583:exon5:c.G406A:p.V136M;ENSG00000133313:ENST00000324262:exon7:c.G658A:p.V220M;ENSG00000133313:ENST00000324301:exon4:c.G406A:p.V136M;	0.557337449831964	0.504
18	72179683	G	C	18	74512448	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G658C:p.V220L;CNDP2:NM_001168499:exon4:c.G406C:p.V136L;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G658C:p.V220L;ENSG00000133313:ENST00000583785:exon6:c.G658C:p.V220L;ENSG00000133313:ENST00000580672:exon5:c.G604C:p.V202L;ENSG00000133313:ENST00000579624:exon2:c.G139C:p.V47L;ENSG00000133313:ENST00000579583:exon5:c.G406C:p.V136L;ENSG00000133313:ENST00000324262:exon7:c.G658C:p.V220L;ENSG00000133313:ENST00000324301:exon4:c.G406C:p.V136L;	0.995989251184288	0.812
18	72179683	G	T	18	74512448	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G658T:p.V220L;CNDP2:NM_001168499:exon4:c.G406T:p.V136L;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G658T:p.V220L;ENSG00000133313:ENST00000583785:exon6:c.G658T:p.V220L;ENSG00000133313:ENST00000580672:exon5:c.G604T:p.V202L;ENSG00000133313:ENST00000579624:exon2:c.G139T:p.V47L;ENSG00000133313:ENST00000579583:exon5:c.G406T:p.V136L;ENSG00000133313:ENST00000324262:exon7:c.G658T:p.V220L;ENSG00000133313:ENST00000324301:exon4:c.G406T:p.V136L;	0.99878860834744	0.944
18	72179684	T	A	18	74512449	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.T659A:p.V220E;CNDP2:NM_001168499:exon4:c.T407A:p.V136E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.T659A:p.V220E;ENSG00000133313:ENST00000583785:exon6:c.T659A:p.V220E;ENSG00000133313:ENST00000580672:exon5:c.T605A:p.V202E;ENSG00000133313:ENST00000579624:exon2:c.T140A:p.V47E;ENSG00000133313:ENST00000579583:exon5:c.T407A:p.V136E;ENSG00000133313:ENST00000324262:exon7:c.T659A:p.V220E;ENSG00000133313:ENST00000324301:exon4:c.T407A:p.V136E;	0.040792740563999	0.262
18	72179684	T	C	18	74512449	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.T659C:p.V220A;CNDP2:NM_001168499:exon4:c.T407C:p.V136A;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.T659C:p.V220A;ENSG00000133313:ENST00000583785:exon6:c.T659C:p.V220A;ENSG00000133313:ENST00000580672:exon5:c.T605C:p.V202A;ENSG00000133313:ENST00000579624:exon2:c.T140C:p.V47A;ENSG00000133313:ENST00000579583:exon5:c.T407C:p.V136A;ENSG00000133313:ENST00000324262:exon7:c.T659C:p.V220A;ENSG00000133313:ENST00000324301:exon4:c.T407C:p.V136A;	0.0583883304810244	0.338
18	72179684	T	G	18	74512449	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.T659G:p.V220G;CNDP2:NM_001168499:exon4:c.T407G:p.V136G;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.T659G:p.V220G;ENSG00000133313:ENST00000583785:exon6:c.T659G:p.V220G;ENSG00000133313:ENST00000580672:exon5:c.T605G:p.V202G;ENSG00000133313:ENST00000579624:exon2:c.T140G:p.V47G;ENSG00000133313:ENST00000579583:exon5:c.T407G:p.V136G;ENSG00000133313:ENST00000324262:exon7:c.T659G:p.V220G;ENSG00000133313:ENST00000324301:exon4:c.T407G:p.V136G;	0.00822981995690659	0.19
18	72179765	T	A	18	74512530	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.T740A:p.M247K;CNDP2:NM_001168499:exon4:c.T488A:p.M163K;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.T740A:p.M247K;ENSG00000133313:ENST00000583785:exon6:c.T740A:p.M247K;ENSG00000133313:ENST00000579624:exon2:c.T221A:p.M74K;ENSG00000133313:ENST00000324262:exon7:c.T740A:p.M247K;ENSG00000133313:ENST00000324301:exon4:c.T488A:p.M163K;	0.00111383626610103	0.016
18	72179765	T	C	18	74512530	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.T740C:p.M247T;CNDP2:NM_001168499:exon4:c.T488C:p.M163T;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.T740C:p.M247T;ENSG00000133313:ENST00000583785:exon6:c.T740C:p.M247T;ENSG00000133313:ENST00000579624:exon2:c.T221C:p.M74T;ENSG00000133313:ENST00000324262:exon7:c.T740C:p.M247T;ENSG00000133313:ENST00000324301:exon4:c.T488C:p.M163T;	6.63508370581391E-4	0.024
18	72179765	T	G	18	74512530	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.T740G:p.M247R;CNDP2:NM_001168499:exon4:c.T488G:p.M163R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.T740G:p.M247R;ENSG00000133313:ENST00000583785:exon6:c.T740G:p.M247R;ENSG00000133313:ENST00000579624:exon2:c.T221G:p.M74R;ENSG00000133313:ENST00000324262:exon7:c.T740G:p.M247R;ENSG00000133313:ENST00000324301:exon4:c.T488G:p.M163R;	0.00359452544110822	0.036
18	72179766	G	A	18	74512531	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G741A:p.M247I;CNDP2:NM_001168499:exon4:c.G489A:p.M163I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G741A:p.M247I;ENSG00000133313:ENST00000583785:exon6:c.G741A:p.M247I;ENSG00000133313:ENST00000579624:exon2:c.G222A:p.M74I;ENSG00000133313:ENST00000324262:exon7:c.G741A:p.M247I;ENSG00000133313:ENST00000324301:exon4:c.G489A:p.M163I;	0.00498316523264757	0.058
18	72179766	G	C	18	74512531	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G741C:p.M247I;CNDP2:NM_001168499:exon4:c.G489C:p.M163I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G741C:p.M247I;ENSG00000133313:ENST00000583785:exon6:c.G741C:p.M247I;ENSG00000133313:ENST00000579624:exon2:c.G222C:p.M74I;ENSG00000133313:ENST00000324262:exon7:c.G741C:p.M247I;ENSG00000133313:ENST00000324301:exon4:c.G489C:p.M163I;	0.0102028857011658	0.032
18	72179766	G	T	18	74512531	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G741T:p.M247I;CNDP2:NM_001168499:exon4:c.G489T:p.M163I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G741T:p.M247I;ENSG00000133313:ENST00000583785:exon6:c.G741T:p.M247I;ENSG00000133313:ENST00000579624:exon2:c.G222T:p.M74I;ENSG00000133313:ENST00000324262:exon7:c.G741T:p.M247I;ENSG00000133313:ENST00000324301:exon4:c.G489T:p.M163I;	0.0152001459883487	0.036
18	72179767	G	A	18	74512532	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G742A:p.G248S;CNDP2:NM_001168499:exon4:c.G490A:p.G164S;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G742A:p.G248S;ENSG00000133313:ENST00000583785:exon6:c.G742A:p.G248S;ENSG00000133313:ENST00000579624:exon2:c.G223A:p.G75S;ENSG00000133313:ENST00000324262:exon7:c.G742A:p.G248S;ENSG00000133313:ENST00000324301:exon4:c.G490A:p.G164S;	0.997464536177398	0.922
18	72179767	G	C	18	74512532	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G742C:p.G248R;CNDP2:NM_001168499:exon4:c.G490C:p.G164R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G742C:p.G248R;ENSG00000133313:ENST00000583785:exon6:c.G742C:p.G248R;ENSG00000133313:ENST00000579624:exon2:c.G223C:p.G75R;ENSG00000133313:ENST00000324262:exon7:c.G742C:p.G248R;ENSG00000133313:ENST00000324301:exon4:c.G490C:p.G164R;	0.965249898461075	0.646
18	72179767	G	T	18	74512532	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon7:c.G742T:p.G248C;CNDP2:NM_001168499:exon4:c.G490T:p.G164C;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon7:c.G742T:p.G248C;ENSG00000133313:ENST00000583785:exon6:c.G742T:p.G248C;ENSG00000133313:ENST00000579624:exon2:c.G223T:p.G75C;ENSG00000133313:ENST00000324262:exon7:c.G742T:p.G248C;ENSG00000133313:ENST00000324301:exon4:c.G490T:p.G164C;	0.737730165708632	0.706
18	72179768	G	A	18	74512533	y	y	splicing	CNDP2(NM_018235:exon7:c.742+1G>A;NM_001168499:exon4:c.490+1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.742+1G>A;ENST00000579847:exon7:c.742+1G>A;ENST00000583785:exon6:c.742+1G>A;ENST00000324301:exon4:c.490+1G>A;ENST00000579624:exon2:c.223+1G>A)	.	.	0.999915710762489	0.94
18	72179768	G	C	18	74512533	y	y	splicing	CNDP2(NM_018235:exon7:c.742+1G>C;NM_001168499:exon4:c.490+1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.742+1G>C;ENST00000579847:exon7:c.742+1G>C;ENST00000583785:exon6:c.742+1G>C;ENST00000324301:exon4:c.490+1G>C;ENST00000579624:exon2:c.223+1G>C)	.	.	0.999915710762489	0.95
18	72179768	G	T	18	74512533	y	y	splicing	CNDP2(NM_018235:exon7:c.742+1G>T;NM_001168499:exon4:c.490+1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.742+1G>T;ENST00000579847:exon7:c.742+1G>T;ENST00000583785:exon6:c.742+1G>T;ENST00000324301:exon4:c.490+1G>T;ENST00000579624:exon2:c.223+1G>T)	.	.	0.999915710762489	0.94
18	72179769	T	A	18	74512534	y	y	splicing	CNDP2(NM_018235:exon7:c.742+2T>A;NM_001168499:exon4:c.490+2T>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.742+2T>A;ENST00000579847:exon7:c.742+2T>A;ENST00000583785:exon6:c.742+2T>A;ENST00000324301:exon4:c.490+2T>A;ENST00000579624:exon2:c.223+2T>A)	.	.	0.99997739437695	0.93
18	72179769	T	C	18	74512534	y	y	splicing	CNDP2(NM_018235:exon7:c.742+2T>C;NM_001168499:exon4:c.490+2T>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.742+2T>C;ENST00000579847:exon7:c.742+2T>C;ENST00000583785:exon6:c.742+2T>C;ENST00000324301:exon4:c.490+2T>C;ENST00000579624:exon2:c.223+2T>C)	.	.	0.97563265876445	0.56
18	72179769	T	G	18	74512534	y	y	splicing	CNDP2(NM_018235:exon7:c.742+2T>G;NM_001168499:exon4:c.490+2T>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon7:c.742+2T>G;ENST00000579847:exon7:c.742+2T>G;ENST00000583785:exon6:c.742+2T>G;ENST00000324301:exon4:c.490+2T>G;ENST00000579624:exon2:c.223+2T>G)	.	.	0.999982151912279	0.894
18	72179770	A	C	18	74512535	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.687607601307704	0.504
18	72179770	A	G	18	74512535	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.91723156201272E-4	0.014
18	72179770	A	T	18	74512535	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.661120454233024	0.462
18	72179771	A	C	18	74512536	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.450030262521086	0.5
18	72179771	A	G	18	74512536	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.704457624094879	0.63
18	72179771	A	T	18	74512536	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.724844987491892	0.582
18	72179772	G	A	18	74512537	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.994969880580407	0.88
18	72179772	G	C	18	74512537	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999246204587464	0.938
18	72179772	G	T	18	74512537	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.995569248209236	0.834
18	72179773	T	A	18	74512538	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.91050493556265E-4	0.038
18	72179773	T	C	18	74512538	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.61045691477542E-4	0.024
18	72179773	T	G	18	74512538	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.84784836665852E-4	0.028
18	72179774	G	A	18	74512539	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.10673763910407E-5	0.016
18	72179774	G	C	18	74512539	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.10673763910407E-5	0.02
18	72179774	G	T	18	74512539	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.84685563381308E-5	0.018
18	72179775	C	A	18	74512540	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.05714549836922E-5	0.0
18	72179775	C	G	18	74512540	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.05714549836922E-5	0.004
18	72179775	C	T	18	74512540	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.05714549836922E-5	0.0
18	72180782	G	A	18	74513547	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.704805575173581	0.712
18	72180782	G	C	18	74513547	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.89171835944506E-6	0.0
18	72180782	G	T	18	74513547	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.27219349862041E-5	0.0
18	72180783	G	A	18	74513548	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.50864418641036E-5	0.006
18	72180783	G	C	18	74513548	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.44706012644692E-5	0.004
18	72180783	G	T	18	74513548	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.11023657407191E-5	0.004
18	72180784	C	A	18	74513549	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00142863183232331	0.05
18	72180784	C	G	18	74513549	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00224978678896762	0.032
18	72180784	C	T	18	74513549	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	9.47212849113229E-5	0.01
18	72180785	T	A	18	74513550	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0184231037237492	0.25
18	72180785	T	C	18	74513550	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.10692479467003E-4	0.002
18	72180785	T	G	18	74513550	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00677219907772102	0.278
18	72180786	T	A	18	74513551	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00114443552734001	0.084
18	72180786	T	C	18	74513551	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.28076011991017E-5	0.004
18	72180786	T	G	18	74513551	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.02474274314655E-4	0.038
18	72180787	C	A	18	74513552	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0016239393378126	0.07
18	72180787	C	G	18	74513552	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.82337057988283E-4	0.08
18	72180787	C	T	18	74513552	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.33352105056774E-5	0.0
18	72180788	C	A	18	74513553	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00351245896271977	0.41
18	72180788	C	G	18	74513553	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0431644012312316	0.414
18	72180788	C	T	18	74513553	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.7489593130557E-4	0.092
18	72180789	C	A	18	74513554	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.93737531508537E-4	0.074
18	72180789	C	G	18	74513554	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00156141322733703	0.086
18	72180789	C	T	18	74513554	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.11800677675806E-4	0.014
18	72180790	T	A	18	74513555	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.28332510086544E-5	0.004
18	72180790	T	C	18	74513555	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.6262849731022E-5	0.0
18	72180790	T	G	18	74513555	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.60986433476962E-5	0.006
18	72180791	C	A	18	74513556	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.80345326268081	0.782
18	72180791	C	G	18	74513556	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999515422619824	0.95
18	72180791	C	T	18	74513556	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00310139542639718	0.206
18	72180792	A	C	18	74513557	y	y	splicing	CNDP2(NM_018235:exon8:c.743-2A>C;NM_001168499:exon5:c.491-2A>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.743-2A>C;ENST00000579847:exon8:c.743-2A>C;ENST00000583785:exon7:c.743-2A>C;ENST00000324301:exon5:c.491-2A>C)	.	.	0.999989707597594	0.936
18	72180792	A	G	18	74513557	y	y	splicing	CNDP2(NM_018235:exon8:c.743-2A>G;NM_001168499:exon5:c.491-2A>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.743-2A>G;ENST00000579847:exon8:c.743-2A>G;ENST00000583785:exon7:c.743-2A>G;ENST00000324301:exon5:c.491-2A>G)	.	.	0.999989707597594	0.936
18	72180792	A	T	18	74513557	y	y	splicing	CNDP2(NM_018235:exon8:c.743-2A>T;NM_001168499:exon5:c.491-2A>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.743-2A>T;ENST00000579847:exon8:c.743-2A>T;ENST00000583785:exon7:c.743-2A>T;ENST00000324301:exon5:c.491-2A>T)	.	.	0.999992076683048	0.936
18	72180793	G	A	18	74513558	y	y	splicing	CNDP2(NM_018235:exon8:c.743-1G>A;NM_001168499:exon5:c.491-1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.743-1G>A;ENST00000579847:exon8:c.743-1G>A;ENST00000583785:exon7:c.743-1G>A;ENST00000324301:exon5:c.491-1G>A)	.	.	0.999985666489905	0.94
18	72180793	G	C	18	74513558	y	y	splicing	CNDP2(NM_018235:exon8:c.743-1G>C;NM_001168499:exon5:c.491-1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.743-1G>C;ENST00000579847:exon8:c.743-1G>C;ENST00000583785:exon7:c.743-1G>C;ENST00000324301:exon5:c.491-1G>C)	.	.	0.999985666489905	0.938
18	72180793	G	T	18	74513558	y	y	splicing	CNDP2(NM_018235:exon8:c.743-1G>T;NM_001168499:exon5:c.491-1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.743-1G>T;ENST00000579847:exon8:c.743-1G>T;ENST00000583785:exon7:c.743-1G>T;ENST00000324301:exon5:c.491-1G>T)	.	.	0.999985666489905	0.916
18	72180794	G	A	18	74513559	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.G743A:p.G248D;CNDP2:NM_001168499:exon5:c.G491A:p.G164D;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.G743A:p.G248D;ENSG00000133313:ENST00000583785:exon7:c.G743A:p.G248D;ENSG00000133313:ENST00000324262:exon8:c.G743A:p.G248D;ENSG00000133313:ENST00000324301:exon5:c.G491A:p.G164D;	0.2039907730244	0.354
18	72180794	G	C	18	74513559	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.G743C:p.G248A;CNDP2:NM_001168499:exon5:c.G491C:p.G164A;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.G743C:p.G248A;ENSG00000133313:ENST00000583785:exon7:c.G743C:p.G248A;ENSG00000133313:ENST00000324262:exon8:c.G743C:p.G248A;ENSG00000133313:ENST00000324301:exon5:c.G491C:p.G164A;	0.384717551962961	0.696
18	72180794	G	T	18	74513559	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.G743T:p.G248V;CNDP2:NM_001168499:exon5:c.G491T:p.G164V;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.G743T:p.G248V;ENSG00000133313:ENST00000583785:exon7:c.G743T:p.G248V;ENSG00000133313:ENST00000324262:exon8:c.G743T:p.G248V;ENSG00000133313:ENST00000324301:exon5:c.G491T:p.G164V;	0.425274613079761	0.662
18	72180795	C	A	18	74513560	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon8:c.C744A:p.G248G;CNDP2:NM_001168499:exon5:c.C492A:p.G164G;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.C744A:p.G248G;ENSG00000133313:ENST00000583785:exon7:c.C744A:p.G248G;ENSG00000133313:ENST00000324262:exon8:c.C744A:p.G248G;ENSG00000133313:ENST00000324301:exon5:c.C492A:p.G164G;	6.61186124388946E-5	0.016
18	72180795	C	G	18	74513560	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon8:c.C744G:p.G248G;CNDP2:NM_001168499:exon5:c.C492G:p.G164G;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.C744G:p.G248G;ENSG00000133313:ENST00000583785:exon7:c.C744G:p.G248G;ENSG00000133313:ENST00000324262:exon8:c.C744G:p.G248G;ENSG00000133313:ENST00000324301:exon5:c.C492G:p.G164G;	6.82169594007163E-5	0.008
18	72180795	C	T	18	74513560	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon8:c.C744T:p.G248G;CNDP2:NM_001168499:exon5:c.C492T:p.G164G;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.C744T:p.G248G;ENSG00000133313:ENST00000583785:exon7:c.C744T:p.G248G;ENSG00000133313:ENST00000324262:exon8:c.C744T:p.G248G;ENSG00000133313:ENST00000324301:exon5:c.C492T:p.G164G;	1.09779940476685E-4	0.002
18	72180952	A	C	18	74513717	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.A901C:p.K301Q;CNDP2:NM_001168499:exon5:c.A649C:p.K217Q;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.A901C:p.K301Q;ENSG00000133313:ENST00000324262:exon8:c.A901C:p.K301Q;ENSG00000133313:ENST00000324301:exon5:c.A649C:p.K217Q;	0.0111245053649596	0.098
18	72180952	A	G	18	74513717	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.A901G:p.K301E;CNDP2:NM_001168499:exon5:c.A649G:p.K217E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.A901G:p.K301E;ENSG00000133313:ENST00000324262:exon8:c.A901G:p.K301E;ENSG00000133313:ENST00000324301:exon5:c.A649G:p.K217E;	0.249857386128816	0.296
18	72180952	A	T	18	74513717	y	y	exonic	CNDP2	stopgain SNV	CNDP2:NM_018235:exon8:c.A901T:p.K301X;CNDP2:NM_001168499:exon5:c.A649T:p.K217X;	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000579847:exon8:c.A901T:p.K301X;ENSG00000133313:ENST00000324262:exon8:c.A901T:p.K301X;ENSG00000133313:ENST00000324301:exon5:c.A649T:p.K217X;	0.995732311000265	0.838
18	72180953	A	C	18	74513718	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.A902C:p.K301T;CNDP2:NM_001168499:exon5:c.A650C:p.K217T;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.A902C:p.K301T;ENSG00000133313:ENST00000324262:exon8:c.A902C:p.K301T;ENSG00000133313:ENST00000324301:exon5:c.A650C:p.K217T;	0.999649105185181	0.954
18	72180953	A	G	18	74513718	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.A902G:p.K301R;CNDP2:NM_001168499:exon5:c.A650G:p.K217R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.A902G:p.K301R;ENSG00000133313:ENST00000324262:exon8:c.A902G:p.K301R;ENSG00000133313:ENST00000324301:exon5:c.A650G:p.K217R;	0.999972092552301	0.986
18	72180953	A	T	18	74513718	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.A902T:p.K301M;CNDP2:NM_001168499:exon5:c.A650T:p.K217M;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.A902T:p.K301M;ENSG00000133313:ENST00000324262:exon8:c.A902T:p.K301M;ENSG00000133313:ENST00000324301:exon5:c.A650T:p.K217M;	0.999954851409348	0.98
18	72180954	G	A	18	74513719	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon8:c.G903A:p.K301K;CNDP2:NM_001168499:exon5:c.G651A:p.K217K;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.G903A:p.K301K;ENSG00000133313:ENST00000324262:exon8:c.G903A:p.K301K;ENSG00000133313:ENST00000324301:exon5:c.G651A:p.K217K;	0.999981507443806	0.992
18	72180954	G	C	18	74513719	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.G903C:p.K301N;CNDP2:NM_001168499:exon5:c.G651C:p.K217N;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.G903C:p.K301N;ENSG00000133313:ENST00000324262:exon8:c.G903C:p.K301N;ENSG00000133313:ENST00000324301:exon5:c.G651C:p.K217N;	0.999995772895214	1.0
18	72180954	G	T	18	74513719	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon8:c.G903T:p.K301N;CNDP2:NM_001168499:exon5:c.G651T:p.K217N;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon8:c.G903T:p.K301N;ENSG00000133313:ENST00000324262:exon8:c.G903T:p.K301N;ENSG00000133313:ENST00000324301:exon5:c.G651T:p.K217N;	0.999981980515999	1.0
18	72180955	G	A	18	74513720	y	y	splicing	CNDP2(NM_018235:exon8:c.903+1G>A;NM_001168499:exon5:c.651+1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.903+1G>A;ENST00000579847:exon8:c.903+1G>A;ENST00000324301:exon5:c.651+1G>A)	.	.	0.999925264980459	0.93
18	72180955	G	C	18	74513720	y	y	splicing	CNDP2(NM_018235:exon8:c.903+1G>C;NM_001168499:exon5:c.651+1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.903+1G>C;ENST00000579847:exon8:c.903+1G>C;ENST00000324301:exon5:c.651+1G>C)	.	.	0.999951246566617	0.95
18	72180955	G	T	18	74513720	y	y	splicing	CNDP2(NM_018235:exon8:c.903+1G>T;NM_001168499:exon5:c.651+1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.903+1G>T;ENST00000579847:exon8:c.903+1G>T;ENST00000324301:exon5:c.651+1G>T)	.	.	0.999925264980459	0.952
18	72180956	T	A	18	74513721	y	y	splicing	CNDP2(NM_018235:exon8:c.903+2T>A;NM_001168499:exon5:c.651+2T>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.903+2T>A;ENST00000579847:exon8:c.903+2T>A;ENST00000324301:exon5:c.651+2T>A)	.	.	0.999922897140544	0.776
18	72180956	T	C	18	74513721	y	y	splicing	CNDP2(NM_018235:exon8:c.903+2T>C;NM_001168499:exon5:c.651+2T>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.903+2T>C;ENST00000579847:exon8:c.903+2T>C;ENST00000324301:exon5:c.651+2T>C)	.	.	0.998312049115806	0.734
18	72180956	T	G	18	74513721	y	y	splicing	CNDP2(NM_018235:exon8:c.903+2T>G;NM_001168499:exon5:c.651+2T>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon8:c.903+2T>G;ENST00000579847:exon8:c.903+2T>G;ENST00000324301:exon5:c.651+2T>G)	.	.	0.999939078766844	0.78
18	72180957	C	A	18	74513722	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.40931858849604E-4	0.136
18	72180957	C	G	18	74513722	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.1065470086589E-4	0.068
18	72180957	C	T	18	74513722	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.46002047135385E-4	0.03
18	72180958	T	A	18	74513723	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.36958827578012E-4	0.034
18	72180958	T	C	18	74513723	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.05737551699209E-5	0.014
18	72180958	T	G	18	74513723	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.61014379944032E-4	0.014
18	72180959	G	A	18	74513724	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999854057948513	0.904
18	72180959	G	C	18	74513724	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999912855998584	0.908
18	72180959	G	T	18	74513724	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999912855998584	0.9
18	72180960	G	A	18	74513725	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.07092827453534E-5	0.006
18	72180960	G	C	18	74513725	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.75313102397031E-5	0.066
18	72180960	G	T	18	74513725	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.12045736040035E-5	0.002
18	72180961	T	A	18	74513726	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.90677823895044E-5	0.024
18	72180961	T	C	18	74513726	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.66590507456816E-5	0.002
18	72180961	T	G	18	74513726	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.470116607971E-5	0.0
18	72180962	T	A	18	74513727	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.21214330836029E-4	0.056
18	72180962	T	C	18	74513727	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.3140276372696E-5	0.002
18	72180962	T	G	18	74513727	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.97748854266927E-4	0.032
18	72183451	A	C	18	74516216	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.62851621392297E-5	0.0
18	72183451	A	G	18	74516216	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.07764221375804E-4	0.004
18	72183451	A	T	18	74516216	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.12297178028486E-4	0.004
18	72183452	T	A	18	74516217	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.862716435272518	0.5
18	72183452	T	C	18	74516217	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.012305387660278	0.164
18	72183452	T	G	18	74516217	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999550584256473	0.93
18	72183453	T	A	18	74516218	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0207793033473338	0.246
18	72183453	T	C	18	74516218	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.14707385103491E-5	0.0
18	72183453	T	G	18	74516218	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0195972624418035	0.266
18	72183454	T	A	18	74516219	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.082758955295836	0.294
18	72183454	T	C	18	74516219	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.22127520732159E-4	0.01
18	72183454	T	G	18	74516219	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.036756442996115	0.314
18	72183455	T	A	18	74516220	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00655758136495471	0.022
18	72183455	T	C	18	74516220	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.43179738997655E-5	0.012
18	72183455	T	G	18	74516220	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.82275013173278E-4	0.042
18	72183456	T	A	18	74516221	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00807960422628351	0.1
18	72183456	T	C	18	74516221	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.77815020910205E-5	0.002
18	72183456	T	G	18	74516221	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00585327207628386	0.042
18	72183457	C	A	18	74516222	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00856725212488786	0.172
18	72183457	C	G	18	74516222	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0213153244279127	0.134
18	72183457	C	T	18	74516222	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.55006135810072E-4	0.004
18	72183458	T	A	18	74516223	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999650516415464	0.776
18	72183458	T	C	18	74516223	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.2804716855842E-4	0.006
18	72183458	T	G	18	74516223	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.695420365300274	0.472
18	72183459	G	A	18	74516224	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.59468073645094E-4	0.004
18	72183459	G	C	18	74516224	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.5807544026954E-5	0.0
18	72183459	G	T	18	74516224	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.13479145195739E-4	0.006
18	72183460	C	A	18	74516225	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.998353914458938	0.796
18	72183460	C	G	18	74516225	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999524254243214	0.94
18	72183460	C	T	18	74516225	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0439415389090585	0.212
18	72183461	A	C	18	74516226	y	y	splicing	CNDP2(NM_018235:exon9:c.904-2A>C;NM_001168499:exon6:c.652-2A>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon9:c.904-2A>C;ENST00000579847:exon9:c.904-2A>C;ENST00000324301:exon6:c.652-2A>C)	.	.	0.999993519952936	0.924
18	72183461	A	G	18	74516226	y	y	splicing	CNDP2(NM_018235:exon9:c.904-2A>G;NM_001168499:exon6:c.652-2A>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon9:c.904-2A>G;ENST00000579847:exon9:c.904-2A>G;ENST00000324301:exon6:c.652-2A>G)	.	.	0.999993519952936	0.924
18	72183461	A	T	18	74516226	y	y	splicing	CNDP2(NM_018235:exon9:c.904-2A>T;NM_001168499:exon6:c.652-2A>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon9:c.904-2A>T;ENST00000579847:exon9:c.904-2A>T;ENST00000324301:exon6:c.652-2A>T)	.	.	0.999993519952936	0.924
18	72183462	G	A	18	74516227	y	y	splicing	CNDP2(NM_018235:exon9:c.904-1G>A;NM_001168499:exon6:c.652-1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon9:c.904-1G>A;ENST00000579847:exon9:c.904-1G>A;ENST00000324301:exon6:c.652-1G>A)	.	.	0.999988247793601	0.934
18	72183462	G	C	18	74516227	y	y	splicing	CNDP2(NM_018235:exon9:c.904-1G>C;NM_001168499:exon6:c.652-1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon9:c.904-1G>C;ENST00000579847:exon9:c.904-1G>C;ENST00000324301:exon6:c.652-1G>C)	.	.	0.999988247793601	0.934
18	72183462	G	T	18	74516227	y	y	splicing	CNDP2(NM_018235:exon9:c.904-1G>T;NM_001168499:exon6:c.652-1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon9:c.904-1G>T;ENST00000579847:exon9:c.904-1G>T;ENST00000324301:exon6:c.652-1G>T)	.	.	0.999988247793601	0.934
18	72183463	A	C	18	74516228	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon9:c.A904C:p.K302Q;CNDP2:NM_001168499:exon6:c.A652C:p.K218Q;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon9:c.A904C:p.K302Q;ENSG00000133313:ENST00000324262:exon9:c.A904C:p.K302Q;ENSG00000133313:ENST00000324301:exon6:c.A652C:p.K218Q;	0.0663678942785423	0.294
18	72183463	A	G	18	74516228	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon9:c.A904G:p.K302E;CNDP2:NM_001168499:exon6:c.A652G:p.K218E;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon9:c.A904G:p.K302E;ENSG00000133313:ENST00000324262:exon9:c.A904G:p.K302E;ENSG00000133313:ENST00000324301:exon6:c.A652G:p.K218E;	7.32833407278881E-4	0.028
18	72183463	A	T	18	74516228	y	y	exonic	CNDP2	stopgain SNV	CNDP2:NM_018235:exon9:c.A904T:p.K302X;CNDP2:NM_001168499:exon6:c.A652T:p.K218X;	exonic	ENSG00000133313	stopgain SNV	ENSG00000133313:ENST00000579847:exon9:c.A904T:p.K302X;ENSG00000133313:ENST00000324262:exon9:c.A904T:p.K302X;ENSG00000133313:ENST00000324301:exon6:c.A652T:p.K218X;	0.442865407810661	0.546
18	72183464	A	C	18	74516229	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon9:c.A905C:p.K302T;CNDP2:NM_001168499:exon6:c.A653C:p.K218T;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon9:c.A905C:p.K302T;ENSG00000133313:ENST00000324262:exon9:c.A905C:p.K302T;ENSG00000133313:ENST00000324301:exon6:c.A653C:p.K218T;	0.0043430639813177	0.016
18	72183464	A	G	18	74516229	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon9:c.A905G:p.K302R;CNDP2:NM_001168499:exon6:c.A653G:p.K218R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon9:c.A905G:p.K302R;ENSG00000133313:ENST00000324262:exon9:c.A905G:p.K302R;ENSG00000133313:ENST00000324301:exon6:c.A653G:p.K218R;	0.00323606409704211	0.134
18	72183464	A	T	18	74516229	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon9:c.A905T:p.K302I;CNDP2:NM_001168499:exon6:c.A653T:p.K218I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon9:c.A905T:p.K302I;ENSG00000133313:ENST00000324262:exon9:c.A905T:p.K302I;ENSG00000133313:ENST00000324301:exon6:c.A653T:p.K218I;	0.00440359160876207	0.076
18	72185722	T	A	18	74518487	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0326555594942109	0.394
18	72185722	T	C	18	74518487	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.50430493093849E-4	0.014
18	72185722	T	G	18	74518487	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999743674412883	0.952
18	72185723	T	A	18	74518488	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.036126709849516	0.364
18	72185723	T	C	18	74518488	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.6088196896897E-4	0.032
18	72185723	T	G	18	74518488	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0478861990883296	0.398
18	72185724	T	A	18	74518489	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999937352060409	0.984
18	72185724	T	C	18	74518489	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.07926250295128E-4	0.02
18	72185724	T	G	18	74518489	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0577055394595055	0.386
18	72185725	G	A	18	74518490	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.10114597430278E-4	0.02
18	72185725	G	C	18	74518490	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.10936725172765E-4	0.002
18	72185725	G	T	18	74518490	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.54602382030408E-4	0.014
18	72185726	T	A	18	74518491	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999777761171597	0.99
18	72185726	T	C	18	74518491	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.55273813579156E-5	0.0
18	72185726	T	G	18	74518491	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00168556187232482	0.134
18	72185727	G	A	18	74518492	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999309499993106	0.888
18	72185727	G	C	18	74518492	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.28895516701024E-4	0.022
18	72185727	G	T	18	74518492	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.77730751754046E-4	0.014
18	72185728	G	A	18	74518493	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.38849887694091E-5	0.002
18	72185728	G	C	18	74518493	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.06987937135219E-5	0.002
18	72185728	G	T	18	74518493	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.34650660864832E-4	0.004
18	72185729	T	A	18	74518494	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.704211141300184	0.508
18	72185729	T	C	18	74518494	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00768589926869447	0.112
18	72185729	T	G	18	74518494	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.155526578220299	0.48
18	72185730	T	A	18	74518495	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.82524039249171E-4	0.0
18	72185730	T	C	18	74518495	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.30020979247127E-5	0.0
18	72185730	T	G	18	74518495	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.79093092062142E-4	0.0
18	72185731	T	A	18	74518496	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.340558703132602	0.352
18	72185731	T	C	18	74518496	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.9171063032244E-4	0.022
18	72185731	T	G	18	74518496	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.995460435446013	0.744
18	72185732	A	C	18	74518497	y	y	splicing	CNDP2(NM_018235:exon10:c.1069-2A>C;NM_001168499:exon7:c.817-2A>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1069-2A>C;ENST00000579847:exon10:c.1069-2A>C;ENST00000324301:exon7:c.817-2A>C)	.	.	0.999978952611685	0.928
18	72185732	A	G	18	74518497	y	y	splicing	CNDP2(NM_018235:exon10:c.1069-2A>G;NM_001168499:exon7:c.817-2A>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1069-2A>G;ENST00000579847:exon10:c.1069-2A>G;ENST00000324301:exon7:c.817-2A>G)	.	.	0.999978952611685	0.926
18	72185732	A	T	18	74518497	y	y	splicing	CNDP2(NM_018235:exon10:c.1069-2A>T;NM_001168499:exon7:c.817-2A>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1069-2A>T;ENST00000579847:exon10:c.1069-2A>T;ENST00000324301:exon7:c.817-2A>T)	.	.	0.999988247793601	0.926
18	72185733	G	A	18	74518498	y	y	splicing	CNDP2(NM_018235:exon10:c.1069-1G>A;NM_001168499:exon7:c.817-1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1069-1G>A;ENST00000579847:exon10:c.1069-1G>A;ENST00000324301:exon7:c.817-1G>A)	.	.	0.999985532734767	0.936
18	72185733	G	C	18	74518498	y	y	splicing	CNDP2(NM_018235:exon10:c.1069-1G>C;NM_001168499:exon7:c.817-1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1069-1G>C;ENST00000579847:exon10:c.1069-1G>C;ENST00000324301:exon7:c.817-1G>C)	.	.	0.999985532734767	0.936
18	72185733	G	T	18	74518498	y	y	splicing	CNDP2(NM_018235:exon10:c.1069-1G>T;NM_001168499:exon7:c.817-1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1069-1G>T;ENST00000579847:exon10:c.1069-1G>T;ENST00000324301:exon7:c.817-1G>T)	.	.	0.999985532734767	0.936
18	72185734	G	A	18	74518499	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.G1069A:p.V357I;CNDP2:NM_001168499:exon7:c.G817A:p.V273I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.G1069A:p.V357I;ENSG00000133313:ENST00000324262:exon10:c.G1069A:p.V357I;ENSG00000133313:ENST00000324301:exon7:c.G817A:p.V273I;	0.99962127648042	0.974
18	72185734	G	C	18	74518499	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.G1069C:p.V357L;CNDP2:NM_001168499:exon7:c.G817C:p.V273L;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.G1069C:p.V357L;ENSG00000133313:ENST00000324262:exon10:c.G1069C:p.V357L;ENSG00000133313:ENST00000324301:exon7:c.G817C:p.V273L;	0.999861434044456	0.96
18	72185734	G	T	18	74518499	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.G1069T:p.V357F;CNDP2:NM_001168499:exon7:c.G817T:p.V273F;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.G1069T:p.V357F;ENSG00000133313:ENST00000324262:exon10:c.G1069T:p.V357F;ENSG00000133313:ENST00000324301:exon7:c.G817T:p.V273F;	0.999922546073818	0.998
18	72185735	T	A	18	74518500	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.T1070A:p.V357D;CNDP2:NM_001168499:exon7:c.T818A:p.V273D;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.T1070A:p.V357D;ENSG00000133313:ENST00000324262:exon10:c.T1070A:p.V357D;ENSG00000133313:ENST00000324301:exon7:c.T818A:p.V273D;	0.246803758581888	0.448
18	72185735	T	C	18	74518500	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.T1070C:p.V357A;CNDP2:NM_001168499:exon7:c.T818C:p.V273A;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.T1070C:p.V357A;ENSG00000133313:ENST00000324262:exon10:c.T1070C:p.V357A;ENSG00000133313:ENST00000324301:exon7:c.T818C:p.V273A;	0.363243665374369	0.518
18	72185735	T	G	18	74518500	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.T1070G:p.V357G;CNDP2:NM_001168499:exon7:c.T818G:p.V273G;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.T1070G:p.V357G;ENSG00000133313:ENST00000324262:exon10:c.T1070G:p.V357G;ENSG00000133313:ENST00000324301:exon7:c.T818G:p.V273G;	0.368264491611252	0.434
18	72185873	C	A	18	74518638	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.C1208A:p.T403K;CNDP2:NM_001168499:exon7:c.C956A:p.T319K;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.C1208A:p.T403K;ENSG00000133313:ENST00000324262:exon10:c.C1208A:p.T403K;ENSG00000133313:ENST00000324301:exon7:c.C956A:p.T319K;	3.20254698195543E-5	0.04
18	72185873	C	G	18	74518638	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.C1208G:p.T403R;CNDP2:NM_001168499:exon7:c.C956G:p.T319R;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.C1208G:p.T403R;ENSG00000133313:ENST00000324262:exon10:c.C1208G:p.T403R;ENSG00000133313:ENST00000324301:exon7:c.C956G:p.T319R;	0.0398630567976911	0.172
18	72185873	C	T	18	74518638	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.C1208T:p.T403I;CNDP2:NM_001168499:exon7:c.C956T:p.T319I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.C1208T:p.T403I;ENSG00000133313:ENST00000324262:exon10:c.C1208T:p.T403I;ENSG00000133313:ENST00000324301:exon7:c.C956T:p.T319I;	0.971490740079031	0.706
18	72185874	A	C	18	74518639	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon10:c.A1209C:p.T403T;CNDP2:NM_001168499:exon7:c.A957C:p.T319T;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.A1209C:p.T403T;ENSG00000133313:ENST00000324262:exon10:c.A1209C:p.T403T;ENSG00000133313:ENST00000324301:exon7:c.A957C:p.T319T;	0.995273099406396	0.906
18	72185874	A	G	18	74518639	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon10:c.A1209G:p.T403T;CNDP2:NM_001168499:exon7:c.A957G:p.T319T;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.A1209G:p.T403T;ENSG00000133313:ENST00000324262:exon10:c.A1209G:p.T403T;ENSG00000133313:ENST00000324301:exon7:c.A957G:p.T319T;	0.99916100763206	0.934
18	72185874	A	T	18	74518639	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon10:c.A1209T:p.T403T;CNDP2:NM_001168499:exon7:c.A957T:p.T319T;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.A1209T:p.T403T;ENSG00000133313:ENST00000324262:exon10:c.A1209T:p.T403T;ENSG00000133313:ENST00000324301:exon7:c.A957T:p.T319T;	0.99889981713429	0.904
18	72185875	G	A	18	74518640	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.G1210A:p.V404I;CNDP2:NM_001168499:exon7:c.G958A:p.V320I;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.G1210A:p.V404I;ENSG00000133313:ENST00000324262:exon10:c.G1210A:p.V404I;ENSG00000133313:ENST00000324301:exon7:c.G958A:p.V320I;	0.999991683382137	1.0
18	72185875	G	C	18	74518640	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.G1210C:p.V404L;CNDP2:NM_001168499:exon7:c.G958C:p.V320L;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.G1210C:p.V404L;ENSG00000133313:ENST00000324262:exon10:c.G1210C:p.V404L;ENSG00000133313:ENST00000324301:exon7:c.G958C:p.V320L;	0.99999706064642	1.0
18	72185875	G	T	18	74518640	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon10:c.G1210T:p.V404F;CNDP2:NM_001168499:exon7:c.G958T:p.V320F;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon10:c.G1210T:p.V404F;ENSG00000133313:ENST00000324262:exon10:c.G1210T:p.V404F;ENSG00000133313:ENST00000324301:exon7:c.G958T:p.V320F;	0.999985794747845	1.0
18	72185876	G	A	18	74518641	y	y	splicing	CNDP2(NM_018235:exon10:c.1210+1G>A;NM_001168499:exon7:c.958+1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1210+1G>A;ENST00000579847:exon10:c.1210+1G>A;ENST00000324301:exon7:c.958+1G>A)	.	.	0.999954468325363	0.946
18	72185876	G	C	18	74518641	y	y	splicing	CNDP2(NM_018235:exon10:c.1210+1G>C;NM_001168499:exon7:c.958+1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1210+1G>C;ENST00000579847:exon10:c.1210+1G>C;ENST00000324301:exon7:c.958+1G>C)	.	.	0.999915710762489	0.938
18	72185876	G	T	18	74518641	y	y	splicing	CNDP2(NM_018235:exon10:c.1210+1G>T;NM_001168499:exon7:c.958+1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1210+1G>T;ENST00000579847:exon10:c.1210+1G>T;ENST00000324301:exon7:c.958+1G>T)	.	.	0.999915710762489	0.946
18	72185877	T	A	18	74518642	y	y	splicing	CNDP2(NM_018235:exon10:c.1210+2T>A;NM_001168499:exon7:c.958+2T>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1210+2T>A;ENST00000579847:exon10:c.1210+2T>A;ENST00000324301:exon7:c.958+2T>A)	.	.	0.999966203349492	0.95
18	72185877	T	C	18	74518642	y	y	splicing	CNDP2(NM_018235:exon10:c.1210+2T>C;NM_001168499:exon7:c.958+2T>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1210+2T>C;ENST00000579847:exon10:c.1210+2T>C;ENST00000324301:exon7:c.958+2T>C)	.	.	0.999766074474203	0.952
18	72185877	T	G	18	74518642	y	y	splicing	CNDP2(NM_018235:exon10:c.1210+2T>G;NM_001168499:exon7:c.958+2T>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon10:c.1210+2T>G;ENST00000579847:exon10:c.1210+2T>G;ENST00000324301:exon7:c.958+2T>G)	.	.	0.999966203349492	0.958
18	72185878	T	A	18	74518643	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.32851705077211E-4	0.142
18	72185878	T	C	18	74518643	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.01148202340142E-4	0.072
18	72185878	T	G	18	74518643	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.64317954613706E-4	0.306
18	72185879	G	A	18	74518644	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.47502431092413E-4	0.076
18	72185879	G	C	18	74518644	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.05484688215965E-4	0.094
18	72185879	G	T	18	74518644	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.20212741022474E-4	0.046
18	72185880	G	A	18	74518645	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.99994782133585	1.0
18	72185880	G	C	18	74518645	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999972169847784	1.0
18	72185880	G	T	18	74518645	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999972169847784	0.99
18	72185881	A	C	18	74518646	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.58270284513195E-4	0.042
18	72185881	A	G	18	74518646	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.20253991127144E-4	0.074
18	72185881	A	T	18	74518646	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.55812204035659E-4	0.072
18	72185882	C	A	18	74518647	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.58883058706257E-4	0.084
18	72185882	C	G	18	74518647	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.20037514397175E-4	0.006
18	72185882	C	T	18	74518647	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.37684358814743E-4	0.004
18	72185883	G	A	18	74518648	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.47475565192655E-5	0.008
18	72185883	G	C	18	74518648	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.09105271056891E-5	0.0
18	72185883	G	T	18	74518648	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.50004349881047E-5	0.018
18	72186172	A	C	18	74518937	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.79609676095203E-5	0.052
18	72186172	A	G	18	74518937	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.55877402156087E-4	0.03
18	72186172	A	T	18	74518937	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.95237085710035E-5	0.008
18	72186173	T	A	18	74518938	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00122190146771987	0.172
18	72186173	T	C	18	74518938	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.3236049982192E-4	0.064
18	72186173	T	G	18	74518938	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.99877088931166	0.908
18	72186174	T	A	18	74518939	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00280552807677472	0.14
18	72186174	T	C	18	74518939	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.70470081643408E-5	0.016
18	72186174	T	G	18	74518939	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.48920458183501E-4	0.152
18	72186175	T	A	18	74518940	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00325443170534537	0.162
18	72186175	T	C	18	74518940	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.09010531953904E-5	0.024
18	72186175	T	G	18	74518940	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00219797001477904	0.152
18	72186176	C	A	18	74518941	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.21676070945533E-4	0.008
18	72186176	C	G	18	74518941	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.44216025399801E-4	0.026
18	72186176	C	T	18	74518941	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.39334733126002E-5	0.004
18	72186177	C	A	18	74518942	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00267184834007246	0.118
18	72186177	C	G	18	74518942	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00806796537688209	0.106
18	72186177	C	T	18	74518942	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.5715175205864E-5	0.012
18	72186178	C	A	18	74518943	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0046686060878277	0.12
18	72186178	C	G	18	74518943	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.01174697874447	0.148
18	72186178	C	T	18	74518943	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.71319199501219E-5	0.006
18	72186179	C	A	18	74518944	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00116678652699636	0.04
18	72186179	C	G	18	74518944	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.36910433977233E-4	0.078
18	72186179	C	T	18	74518944	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.66734386780173E-5	0.0
18	72186180	C	A	18	74518945	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.46420897921409E-5	0.006
18	72186180	C	G	18	74518945	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.74129974239385E-5	0.004
18	72186180	C	T	18	74518945	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.54645204378153E-4	0.008
18	72186181	C	A	18	74518946	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.997105569161969	0.804
18	72186181	C	G	18	74518946	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999859450393418	0.952
18	72186181	C	T	18	74518946	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0800623262184397	0.06
18	72186182	A	C	18	74518947	y	y	splicing	CNDP2(NM_018235:exon11:c.1211-2A>C;NM_001168499:exon8:c.959-2A>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1211-2A>C;ENST00000579847:exon11:c.1211-2A>C;ENST00000324301:exon8:c.959-2A>C)	.	.	0.999989917668626	0.928
18	72186182	A	G	18	74518947	y	y	splicing	CNDP2(NM_018235:exon11:c.1211-2A>G;NM_001168499:exon8:c.959-2A>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1211-2A>G;ENST00000579847:exon11:c.1211-2A>G;ENST00000324301:exon8:c.959-2A>G)	.	.	0.999989917668626	0.928
18	72186182	A	T	18	74518947	y	y	splicing	CNDP2(NM_018235:exon11:c.1211-2A>T;NM_001168499:exon8:c.959-2A>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1211-2A>T;ENST00000579847:exon11:c.1211-2A>T;ENST00000324301:exon8:c.959-2A>T)	.	.	0.999989917668626	0.928
18	72186183	G	A	18	74518948	y	y	splicing	CNDP2(NM_018235:exon11:c.1211-1G>A;NM_001168499:exon8:c.959-1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1211-1G>A;ENST00000579847:exon11:c.1211-1G>A;ENST00000324301:exon8:c.959-1G>A)	.	.	0.999981760802075	0.944
18	72186183	G	C	18	74518948	y	y	splicing	CNDP2(NM_018235:exon11:c.1211-1G>C;NM_001168499:exon8:c.959-1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1211-1G>C;ENST00000579847:exon11:c.1211-1G>C;ENST00000324301:exon8:c.959-1G>C)	.	.	0.999981760802075	0.944
18	72186183	G	T	18	74518948	y	y	splicing	CNDP2(NM_018235:exon11:c.1211-1G>T;NM_001168499:exon8:c.959-1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1211-1G>T;ENST00000579847:exon11:c.1211-1G>T;ENST00000324301:exon8:c.959-1G>T)	.	.	0.999981760802075	0.944
18	72186184	T	A	18	74518949	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.T1211A:p.V404D;CNDP2:NM_001168499:exon8:c.T959A:p.V320D;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.T1211A:p.V404D;ENSG00000133313:ENST00000324262:exon11:c.T1211A:p.V404D;ENSG00000133313:ENST00000324301:exon8:c.T959A:p.V320D;	0.462097490466056	0.738
18	72186184	T	C	18	74518949	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.T1211C:p.V404A;CNDP2:NM_001168499:exon8:c.T959C:p.V320A;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.T1211C:p.V404A;ENSG00000133313:ENST00000324262:exon11:c.T1211C:p.V404A;ENSG00000133313:ENST00000324301:exon8:c.T959C:p.V320A;	0.778186534674878	0.708
18	72186184	T	G	18	74518949	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.T1211G:p.V404G;CNDP2:NM_001168499:exon8:c.T959G:p.V320G;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.T1211G:p.V404G;ENSG00000133313:ENST00000324262:exon11:c.T1211G:p.V404G;ENSG00000133313:ENST00000324301:exon8:c.T959G:p.V320G;	0.547434955270728	0.682
18	72186185	T	A	18	74518950	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon11:c.T1212A:p.V404V;CNDP2:NM_001168499:exon8:c.T960A:p.V320V;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.T1212A:p.V404V;ENSG00000133313:ENST00000324262:exon11:c.T1212A:p.V404V;ENSG00000133313:ENST00000324301:exon8:c.T960A:p.V320V;	7.88773633044142E-5	0.0
18	72186185	T	C	18	74518950	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon11:c.T1212C:p.V404V;CNDP2:NM_001168499:exon8:c.T960C:p.V320V;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.T1212C:p.V404V;ENSG00000133313:ENST00000324262:exon11:c.T1212C:p.V404V;ENSG00000133313:ENST00000324301:exon8:c.T960C:p.V320V;	1.6310304636158E-4	0.012
18	72186185	T	G	18	74518950	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon11:c.T1212G:p.V404V;CNDP2:NM_001168499:exon8:c.T960G:p.V320V;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.T1212G:p.V404V;ENSG00000133313:ENST00000324262:exon11:c.T1212G:p.V404V;ENSG00000133313:ENST00000324301:exon8:c.T960G:p.V320V;	1.1412534415987E-4	0.002
18	72186329	C	A	18	74519094	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.C1356A:p.N452K;CNDP2:NM_001168499:exon8:c.C1104A:p.N368K;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.C1356A:p.N452K;ENSG00000133313:ENST00000324262:exon11:c.C1356A:p.N452K;ENSG00000133313:ENST00000324301:exon8:c.C1104A:p.N368K;	0.936050405014326	0.8
18	72186329	C	G	18	74519094	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.C1356G:p.N452K;CNDP2:NM_001168499:exon8:c.C1104G:p.N368K;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.C1356G:p.N452K;ENSG00000133313:ENST00000324262:exon11:c.C1356G:p.N452K;ENSG00000133313:ENST00000324301:exon8:c.C1104G:p.N368K;	0.79932970431984	0.646
18	72186329	C	T	18	74519094	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon11:c.C1356T:p.N452N;CNDP2:NM_001168499:exon8:c.C1104T:p.N368N;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.C1356T:p.N452N;ENSG00000133313:ENST00000324262:exon11:c.C1356T:p.N452N;ENSG00000133313:ENST00000324301:exon8:c.C1104T:p.N368N;	0.998372872174351	0.808
18	72186330	A	C	18	74519095	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon11:c.A1357C:p.R453R;CNDP2:NM_001168499:exon8:c.A1105C:p.R369R;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.A1357C:p.R453R;ENSG00000133313:ENST00000324262:exon11:c.A1357C:p.R453R;ENSG00000133313:ENST00000324301:exon8:c.A1105C:p.R369R;	0.673156303889365	0.626
18	72186330	A	G	18	74519095	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.A1357G:p.R453G;CNDP2:NM_001168499:exon8:c.A1105G:p.R369G;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.A1357G:p.R453G;ENSG00000133313:ENST00000324262:exon11:c.A1357G:p.R453G;ENSG00000133313:ENST00000324301:exon8:c.A1105G:p.R369G;	0.989093433215029	0.7
18	72186330	A	T	18	74519095	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.A1357T:p.R453W;CNDP2:NM_001168499:exon8:c.A1105T:p.R369W;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.A1357T:p.R453W;ENSG00000133313:ENST00000324262:exon11:c.A1357T:p.R453W;ENSG00000133313:ENST00000324301:exon8:c.A1105T:p.R369W;	0.966671701129516	0.674
18	72186331	G	A	18	74519096	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.G1358A:p.R453K;CNDP2:NM_001168499:exon8:c.G1106A:p.R369K;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.G1358A:p.R453K;ENSG00000133313:ENST00000324262:exon11:c.G1358A:p.R453K;ENSG00000133313:ENST00000324301:exon8:c.G1106A:p.R369K;	0.999964681053963	0.994
18	72186331	G	C	18	74519096	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.G1358C:p.R453T;CNDP2:NM_001168499:exon8:c.G1106C:p.R369T;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.G1358C:p.R453T;ENSG00000133313:ENST00000324262:exon11:c.G1358C:p.R453T;ENSG00000133313:ENST00000324301:exon8:c.G1106C:p.R369T;	0.999995934504344	0.982
18	72186331	G	T	18	74519096	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon11:c.G1358T:p.R453M;CNDP2:NM_001168499:exon8:c.G1106T:p.R369M;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon11:c.G1358T:p.R453M;ENSG00000133313:ENST00000324262:exon11:c.G1358T:p.R453M;ENSG00000133313:ENST00000324301:exon8:c.G1106T:p.R369M;	0.999972758806489	0.996
18	72186332	G	A	18	74519097	y	y	splicing	CNDP2(NM_018235:exon11:c.1358+1G>A;NM_001168499:exon8:c.1106+1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1358+1G>A;ENST00000579847:exon11:c.1358+1G>A;ENST00000324301:exon8:c.1106+1G>A)	.	.	0.999981760802075	0.944
18	72186332	G	C	18	74519097	y	y	splicing	CNDP2(NM_018235:exon11:c.1358+1G>C;NM_001168499:exon8:c.1106+1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1358+1G>C;ENST00000579847:exon11:c.1358+1G>C;ENST00000324301:exon8:c.1106+1G>C)	.	.	0.999981760802075	0.944
18	72186332	G	T	18	74519097	y	y	splicing	CNDP2(NM_018235:exon11:c.1358+1G>T;NM_001168499:exon8:c.1106+1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1358+1G>T;ENST00000579847:exon11:c.1358+1G>T;ENST00000324301:exon8:c.1106+1G>T)	.	.	0.999981760802075	0.944
18	72186333	T	A	18	74519098	y	y	splicing	CNDP2(NM_018235:exon11:c.1358+2T>A;NM_001168499:exon8:c.1106+2T>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1358+2T>A;ENST00000579847:exon11:c.1358+2T>A;ENST00000324301:exon8:c.1106+2T>A)	.	.	0.999989917668626	0.928
18	72186333	T	C	18	74519098	y	y	splicing	CNDP2(NM_018235:exon11:c.1358+2T>C;NM_001168499:exon8:c.1106+2T>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1358+2T>C;ENST00000579847:exon11:c.1358+2T>C;ENST00000324301:exon8:c.1106+2T>C)	.	.	0.999939711763648	0.856
18	72186333	T	G	18	74519098	y	y	splicing	CNDP2(NM_018235:exon11:c.1358+2T>G;NM_001168499:exon8:c.1106+2T>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon11:c.1358+2T>G;ENST00000579847:exon11:c.1358+2T>G;ENST00000324301:exon8:c.1106+2T>G)	.	.	0.999989917668626	0.928
18	72186334	G	A	18	74519099	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.10596941042612E-4	0.0
18	72186334	G	C	18	74519099	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0917317938388531	0.506
18	72186334	G	T	18	74519099	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.380711541121467	0.53
18	72186335	A	C	18	74519100	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.590297468774755	0.268
18	72186335	A	G	18	74519100	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.787107575621849	0.42
18	72186335	A	T	18	74519100	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.9531442129931	0.542
18	72186336	G	A	18	74519101	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999124121782513	0.978
18	72186336	G	C	18	74519101	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.998876276721701	0.932
18	72186336	G	T	18	74519101	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.999075841520869	0.9
18	72186337	A	C	18	74519102	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.14583424023821E-4	0.044
18	72186337	A	G	18	74519102	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.25167636958984E-5	0.004
18	72186337	A	T	18	74519102	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.01752229504817E-4	0.052
18	72186338	G	A	18	74519103	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.24906088715566E-5	0.0
18	72186338	G	C	18	74519103	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.37049018326117E-5	0.0
18	72186338	G	T	18	74519103	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.24666527402899E-4	0.0
18	72186339	T	A	18	74519104	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.13879224812485E-5	0.0
18	72186339	T	C	18	74519104	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.15125035961338E-5	0.0
18	72186339	T	G	18	74519104	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.44847827846911E-5	0.0
18	72187222	C	A	18	74519987	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00223143262428367	0.058
18	72187222	C	G	18	74519987	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.44391528582444E-4	0.016
18	72187222	C	T	18	74519987	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	4.05059111188853E-5	0.0
18	72187223	C	A	18	74519988	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.6067832950859E-4	0.154
18	72187223	C	G	18	74519988	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.14553186570541E-4	0.008
18	72187223	C	T	18	74519988	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.26953856559439E-5	0.0
18	72187224	T	A	18	74519989	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0164675323832506	0.204
18	72187224	T	C	18	74519989	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.51401014930997E-4	0.004
18	72187224	T	G	18	74519989	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00630392755007514	0.176
18	72187225	C	A	18	74519990	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	7.44477368292385E-4	0.04
18	72187225	C	G	18	74519990	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.97196638408843E-4	0.088
18	72187225	C	T	18	74519990	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.50598535497243E-5	0.002
18	72187226	T	A	18	74519991	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0012135622435138	0.086
18	72187226	T	C	18	74519991	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	5.42232584871711E-5	0.0
18	72187226	T	G	18	74519991	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00132909540378184	0.056
18	72187227	C	A	18	74519992	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.61677596312456E-4	0.01
18	72187227	C	G	18	74519992	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	2.035590145431E-4	0.006
18	72187227	C	T	18	74519992	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.19404206227756E-5	0.002
18	72187228	T	A	18	74519993	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	6.76486792995609E-4	0.038
18	72187228	T	C	18	74519993	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.44859591517958E-5	0.0
18	72187228	T	G	18	74519993	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.00118503498198317	0.09
18	72187229	A	C	18	74519994	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.86404132559273E-5	0.0
18	72187229	A	G	18	74519994	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.79918778360639E-6	0.0
18	72187229	A	T	18	74519994	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.73855808712535E-5	0.02
18	72187230	C	A	18	74519995	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	3.07685551443514E-5	0.0
18	72187230	C	G	18	74519995	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.317915183877709	0.522
18	72187230	C	T	18	74519995	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	8.95083165597512E-5	0.0
18	72187231	C	A	18	74519996	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.0858983270304373	0.262
18	72187231	C	G	18	74519996	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	0.980234949776713	0.636
18	72187231	C	T	18	74519996	y	y	intronic	CNDP2	.	.	intronic	ENSG00000133313	.	.	1.07374739412917E-4	0.002
18	72187232	A	C	18	74519997	y	y	splicing	CNDP2(NM_018235:exon12:c.1359-2A>C;NM_001168499:exon9:c.1107-2A>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon12:c.1359-2A>C;ENST00000579847:exon12:c.1359-2A>C;ENST00000324301:exon9:c.1107-2A>C)	.	.	0.999986903042585	0.926
18	72187232	A	G	18	74519997	y	y	splicing	CNDP2(NM_018235:exon12:c.1359-2A>G;NM_001168499:exon9:c.1107-2A>G)	.	.	splicing	ENSG00000133313(ENST00000324262:exon12:c.1359-2A>G;ENST00000579847:exon12:c.1359-2A>G;ENST00000324301:exon9:c.1107-2A>G)	.	.	0.999986903042585	0.926
18	72187232	A	T	18	74519997	y	y	splicing	CNDP2(NM_018235:exon12:c.1359-2A>T;NM_001168499:exon9:c.1107-2A>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon12:c.1359-2A>T;ENST00000579847:exon12:c.1359-2A>T;ENST00000324301:exon9:c.1107-2A>T)	.	.	0.999986903042585	0.928
18	72187233	G	A	18	74519998	y	y	splicing	CNDP2(NM_018235:exon12:c.1359-1G>A;NM_001168499:exon9:c.1107-1G>A)	.	.	splicing	ENSG00000133313(ENST00000324262:exon12:c.1359-1G>A;ENST00000579847:exon12:c.1359-1G>A;ENST00000324301:exon9:c.1107-1G>A)	.	.	0.999981760802075	0.944
18	72187233	G	C	18	74519998	y	y	splicing	CNDP2(NM_018235:exon12:c.1359-1G>C;NM_001168499:exon9:c.1107-1G>C)	.	.	splicing	ENSG00000133313(ENST00000324262:exon12:c.1359-1G>C;ENST00000579847:exon12:c.1359-1G>C;ENST00000324301:exon9:c.1107-1G>C)	.	.	0.999974603510111	0.942
18	72187233	G	T	18	74519998	y	y	splicing	CNDP2(NM_018235:exon12:c.1359-1G>T;NM_001168499:exon9:c.1107-1G>T)	.	.	splicing	ENSG00000133313(ENST00000324262:exon12:c.1359-1G>T;ENST00000579847:exon12:c.1359-1G>T;ENST00000324301:exon9:c.1107-1G>T)	.	.	0.999981760802075	0.944
18	72187234	G	A	18	74519999	y	y	exonic	CNDP2	synonymous SNV	CNDP2:NM_018235:exon12:c.G1359A:p.R453R;CNDP2:NM_001168499:exon9:c.G1107A:p.R369R;	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579847:exon12:c.G1359A:p.R453R;ENSG00000133313:ENST00000324262:exon12:c.G1359A:p.R453R;ENSG00000133313:ENST00000324301:exon9:c.G1107A:p.R369R;	0.00707207040214875	0.114
18	72187234	G	C	18	74519999	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon12:c.G1359C:p.R453S;CNDP2:NM_001168499:exon9:c.G1107C:p.R369S;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon12:c.G1359C:p.R453S;ENSG00000133313:ENST00000324262:exon12:c.G1359C:p.R453S;ENSG00000133313:ENST00000324301:exon9:c.G1107C:p.R369S;	0.730700511164542	0.618
18	72187234	G	T	18	74519999	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon12:c.G1359T:p.R453S;CNDP2:NM_001168499:exon9:c.G1107T:p.R369S;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon12:c.G1359T:p.R453S;ENSG00000133313:ENST00000324262:exon12:c.G1359T:p.R453S;ENSG00000133313:ENST00000324301:exon9:c.G1107T:p.R369S;	0.91851605238241	0.654
18	72187235	T	A	18	74520000	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon12:c.T1360A:p.Y454N;CNDP2:NM_001168499:exon9:c.T1108A:p.Y370N;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon12:c.T1360A:p.Y454N;ENSG00000133313:ENST00000324262:exon12:c.T1360A:p.Y454N;ENSG00000133313:ENST00000324301:exon9:c.T1108A:p.Y370N;	6.11548604367067E-4	0.014
18	72187235	T	C	18	74520000	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon12:c.T1360C:p.Y454H;CNDP2:NM_001168499:exon9:c.T1108C:p.Y370H;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon12:c.T1360C:p.Y454H;ENSG00000133313:ENST00000324262:exon12:c.T1360C:p.Y454H;ENSG00000133313:ENST00000324301:exon9:c.T1108C:p.Y370H;	6.99135620971203E-4	0.01
18	72187235	T	G	18	74520000	y	y	exonic	CNDP2	nonsynonymous SNV	CNDP2:NM_018235:exon12:c.T1360G:p.Y454D;CNDP2:NM_001168499:exon9:c.T1108G:p.Y370D;	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579847:exon12:c.T1360G:p.Y454D;ENSG00000133313:ENST00000324262:exon12:c.T1360G:p.Y454D;ENSG00000133313:ENST00000324301:exon9:c.T1108G:p.Y370D;	2.83211379711431E-4	0.004
18	72187375	A	C	18	74520140	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.10641051587949E-5	0.0
18	72187375	A	G	18	74520140	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.10641051587949E-5	0.0
18	72187375	A	T	18	74520140	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.10641051587949E-5	0.0
18	72187376	G	A	18	74520141	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	6.24453633365032E-5	0.0
18	72187376	G	C	18	74520141	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	6.24453633365032E-5	0.0
18	72187376	G	T	18	74520141	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	6.24453633365032E-5	0.0
18	72187377	G	A	18	74520142	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	4.39331619859259E-4	0.0
18	72187377	G	C	18	74520142	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.23670744562471E-4	0.0
18	72187377	G	T	18	74520142	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	5.48902380108014E-4	0.0
18	72187378	G	A	18	74520143	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	5.18728774971945E-5	0.038
18	72187378	G	C	18	74520143	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	6.26045762052969E-5	0.038
18	72187378	G	T	18	74520143	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	5.18728774971945E-5	0.038
18	72187379	A	C	18	74520144	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	4.08802802279601E-5	0.0
18	72187379	A	G	18	74520144	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	4.08802802279601E-5	0.0
18	72187379	A	T	18	74520144	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	8.49702646665041E-5	0.006
18	72187380	A	C	18	74520145	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.02642503822698E-5	0.006
18	72187380	A	G	18	74520145	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.02642503822698E-5	0.006
18	72187380	A	T	18	74520145	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.02642503822698E-5	0.006
18	72187381	G	A	18	74520146	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	7.94771332132184E-4	0.018
18	72187381	G	C	18	74520146	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	4.28528141007382E-4	0.018
18	72187381	G	T	18	74520146	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	7.94771332132184E-4	0.018
18	72187382	T	A	18	74520147	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	9.06619588578661E-5	0.01
18	72187382	T	C	18	74520147	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	9.06619588578661E-5	0.006
18	72187382	T	G	18	74520147	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	9.06619588578661E-5	0.006
18	72187383	G	A	18	74520148	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.78205327723092E-5	0.004
18	72187383	G	C	18	74520148	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.31929338280547E-5	0.004
18	72187383	G	T	18	74520148	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	3.78205327723092E-5	0.004
18	72187384	G	A	18	74520149	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	6.89210916601576E-5	0.0
18	72187384	G	C	18	74520149	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	6.89210916601576E-5	0.0
18	72187384	G	T	18	74520149	n	y	UTR3	CNDP2	.	.	UTR3	ENSG00000133313	.	.	6.89210916601576E-5	0.0
18	72187385	A	C	18	74520150	n	y	UTR3	CNDP2	.	.	splicing	ENSG00000133313(ENST00000579624:exon3:c.224-2A>C)	.	.	5.15941453541388E-5	0.004
18	72187385	A	G	18	74520150	n	y	UTR3	CNDP2	.	.	splicing	ENSG00000133313(ENST00000579624:exon3:c.224-2A>G)	.	.	5.15941453541388E-5	0.004
18	72187385	A	T	18	74520150	n	y	UTR3	CNDP2	.	.	splicing	ENSG00000133313(ENST00000579624:exon3:c.224-2A>T)	.	.	5.15941453541388E-5	0.002
18	72187386	G	A	18	74520151	n	y	UTR3	CNDP2	.	.	splicing	ENSG00000133313(ENST00000579624:exon3:c.224-1G>A)	.	.	3.78205327723092E-5	0.006
18	72187386	G	C	18	74520151	n	y	UTR3	CNDP2	.	.	splicing	ENSG00000133313(ENST00000579624:exon3:c.224-1G>C)	.	.	3.07620641825897E-5	0.0
18	72187386	G	T	18	74520151	n	y	UTR3	CNDP2	.	.	splicing	ENSG00000133313(ENST00000579624:exon3:c.224-1G>T)	.	.	3.31929338280547E-5	0.0
18	72187387	G	A	18	74520152	n	y	UTR3	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579624:exon3:c.G224A:p.G75D;	0.00113359844054187	0.02
18	72187387	G	C	18	74520152	n	y	UTR3	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579624:exon3:c.G224C:p.G75A;	8.22860045406435E-4	0.02
18	72187387	G	T	18	74520152	n	y	UTR3	CNDP2	.	.	exonic	ENSG00000133313	nonsynonymous SNV	ENSG00000133313:ENST00000579624:exon3:c.G224T:p.G75V;	8.22860045406435E-4	0.02
18	72187388	T	A	18	74520153	n	y	UTR3	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579624:exon3:c.T225A:p.G75G;	3.53615724193562E-5	0.002
18	72187388	T	C	18	74520153	n	y	UTR3	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579624:exon3:c.T225C:p.G75G;	3.53615724193562E-5	0.002
18	72187388	T	G	18	74520153	n	y	UTR3	CNDP2	.	.	exonic	ENSG00000133313	synonymous SNV	ENSG00000133313:ENST00000579624:exon3:c.T225G:p.G75G;	3.53615724193562E-5	0.002
18	72201924	A	C	18	74534689	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.A22C:p.M8L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.A22C:p.M8L;ENSG00000150656:ENST00000358821:exon1:c.A22C:p.M8L;	3.16645270992639E-5	0.004
18	72201924	A	G	18	74534689	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.A22G:p.M8V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.A22G:p.M8V;ENSG00000150656:ENST00000358821:exon1:c.A22G:p.M8V;	1.05724694480485E-4	0.018
18	72201924	A	T	18	74534689	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.A22T:p.M8L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.A22T:p.M8L;ENSG00000150656:ENST00000358821:exon1:c.A22T:p.M8L;	1.22669706582312E-4	0.06
18	72201925	T	A	18	74534690	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.T23A:p.M8K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.T23A:p.M8K;ENSG00000150656:ENST00000358821:exon1:c.T23A:p.M8K;	5.63324549335402E-5	0.138
18	72201925	T	C	18	74534690	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.T23C:p.M8T;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.T23C:p.M8T;ENSG00000150656:ENST00000358821:exon1:c.T23C:p.M8T;	2.96643954729294E-5	0.012
18	72201925	T	G	18	74534690	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.T23G:p.M8R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.T23G:p.M8R;ENSG00000150656:ENST00000358821:exon1:c.T23G:p.M8R;	2.20788265850296E-4	0.024
18	72201926	G	A	18	74534691	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.G24A:p.M8I;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.G24A:p.M8I;ENSG00000150656:ENST00000358821:exon1:c.G24A:p.M8I;	0.882483869152644	0.55
18	72201926	G	C	18	74534691	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.G24C:p.M8I;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.G24C:p.M8I;ENSG00000150656:ENST00000358821:exon1:c.G24C:p.M8I;	0.963057042146497	0.538
18	72201926	G	T	18	74534691	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon1:c.G24T:p.M8I;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon1:c.G24T:p.M8I;ENSG00000150656:ENST00000358821:exon1:c.G24T:p.M8I;	0.868198187390724	0.506
18	72201927	G	A	18	74534692	y	y	splicing	CNDP1(NM_032649:exon1:c.24+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon1:c.24+1G>A;ENST00000582365:exon1:c.24+1G>A)	.	.	0.999983516200275	0.77
18	72201927	G	C	18	74534692	y	y	splicing	CNDP1(NM_032649:exon1:c.24+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon1:c.24+1G>C;ENST00000582365:exon1:c.24+1G>C)	.	.	0.999983516200275	0.762
18	72201927	G	T	18	74534692	y	y	splicing	CNDP1(NM_032649:exon1:c.24+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon1:c.24+1G>T;ENST00000582365:exon1:c.24+1G>T)	.	.	0.999983516200275	0.774
18	72201928	T	A	18	74534693	y	y	splicing	CNDP1(NM_032649:exon1:c.24+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon1:c.24+2T>A;ENST00000582365:exon1:c.24+2T>A)	.	.	0.999922922441859	0.736
18	72201928	T	C	18	74534693	y	y	splicing	CNDP1(NM_032649:exon1:c.24+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon1:c.24+2T>C;ENST00000582365:exon1:c.24+2T>C)	.	.	0.999562965193286	0.73
18	72201928	T	G	18	74534693	y	y	splicing	CNDP1(NM_032649:exon1:c.24+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon1:c.24+2T>G;ENST00000582365:exon1:c.24+2T>G)	.	.	0.999922922441859	0.73
18	72201929	G	A	18	74534694	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.555694882413E-5	0.0
18	72201929	G	C	18	74534694	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.183006634102348	0.342
18	72201929	G	T	18	74534694	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0238047357218939	0.198
18	72201930	A	C	18	74534695	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.445941987094399	0.406
18	72201930	A	G	18	74534695	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.98326648242573	0.722
18	72201930	A	T	18	74534695	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.982162870238875	0.704
18	72201931	G	A	18	74534696	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.997896311153966	0.794
18	72201931	G	C	18	74534696	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999819725023394	0.866
18	72201931	G	T	18	74534696	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999399352342223	0.804
18	72201932	T	A	18	74534697	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.166383279215063	0.346
18	72201932	T	C	18	74534697	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0147220488327168	0.304
18	72201932	T	G	18	74534697	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00947207491207263	0.302
18	72201933	A	C	18	74534698	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.33815804894828E-5	0.0
18	72201933	A	G	18	74534698	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.69858957237674E-5	0.0
18	72201933	A	T	18	74534698	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.25729171259597E-5	0.0
18	72201934	G	A	18	74534699	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.00584447653403E-5	0.016
18	72201934	G	C	18	74534699	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.00584447653403E-5	0.0
18	72201934	G	T	18	74534699	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.00584447653403E-5	0.0
18	72223561	A	C	18	74556326	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.37201205666951E-5	0.0
18	72223561	A	G	18	74556326	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.68409037689457E-4	0.052
18	72223561	A	T	18	74556326	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.37201205666951E-5	0.0
18	72223562	A	C	18	74556327	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.81216475309008E-5	0.0
18	72223562	A	G	18	74556327	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.800213604040692	0.812
18	72223562	A	T	18	74556327	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.37259882075786E-5	0.058
18	72223563	A	C	18	74556328	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.76726488535292E-5	0.002
18	72223563	A	G	18	74556328	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.998805150900348	0.996
18	72223563	A	T	18	74556328	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.92400117974001E-5	0.006
18	72223564	C	A	18	74556329	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.12628642392269E-5	0.07
18	72223564	C	G	18	74556329	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999313843406609	0.924
18	72223564	C	T	18	74556329	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.39607463466741E-5	0.002
18	72223565	C	A	18	74556330	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.13951414145961E-5	0.084
18	72223565	C	G	18	74556330	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.79025738635446E-5	0.074
18	72223565	C	T	18	74556330	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.86185883291656E-5	0.002
18	72223566	C	A	18	74556331	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.001441421857072	0.082
18	72223566	C	G	18	74556331	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.66882072174758E-4	0.094
18	72223566	C	T	18	74556331	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.50356182905954E-5	0.0
18	72223567	T	A	18	74556332	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.114874152955385	0.29
18	72223567	T	C	18	74556332	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.48014153085789E-4	0.01
18	72223567	T	G	18	74556332	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.207887779037448	0.368
18	72223568	T	A	18	74556333	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.452561158144919	0.26
18	72223568	T	C	18	74556333	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.80181053262831E-4	0.03
18	72223568	T	G	18	74556333	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.462345993170691	0.286
18	72223569	C	A	18	74556334	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.54633952643309E-5	0.002
18	72223569	C	G	18	74556334	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.21158953335389E-4	0.032
18	72223569	C	T	18	74556334	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.38854727612662E-5	0.002
18	72223570	C	A	18	74556335	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.971394364232872	0.74
18	72223570	C	G	18	74556335	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999140528904951	0.768
18	72223570	C	T	18	74556335	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00135161416939982	0.054
18	72223571	A	C	18	74556336	y	y	splicing	CNDP1(NM_032649:exon2:c.25-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.25-2A>C)	.	.	0.999965314197099	0.872
18	72223571	A	G	18	74556336	y	y	splicing	CNDP1(NM_032649:exon2:c.25-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.25-2A>G)	.	.	0.999965314197099	0.872
18	72223571	A	T	18	74556336	y	y	splicing	CNDP1(NM_032649:exon2:c.25-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.25-2A>T)	.	.	0.999965314197099	0.872
18	72223572	G	A	18	74556337	y	y	splicing	CNDP1(NM_032649:exon2:c.25-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.25-1G>A)	.	.	0.999945915708917	0.822
18	72223572	G	C	18	74556337	y	y	splicing	CNDP1(NM_032649:exon2:c.25-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.25-1G>C)	.	.	0.999971171011352	0.774
18	72223572	G	T	18	74556337	y	y	splicing	CNDP1(NM_032649:exon2:c.25-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.25-1G>T)	.	.	0.999971171011352	0.812
18	72223573	G	A	18	74556338	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.G25A:p.A9T;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.G25A:p.A9T;	0.780240804255477	0.578
18	72223573	G	C	18	74556338	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.G25C:p.A9P;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.G25C:p.A9P;	0.771362114676915	0.568
18	72223573	G	T	18	74556338	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.G25T:p.A9S;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.G25T:p.A9S;	0.794712130795311	0.47
18	72223574	C	A	18	74556339	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.C26A:p.A9D;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.C26A:p.A9D;	4.89125218716594E-5	0.004
18	72223574	C	G	18	74556339	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.C26G:p.A9G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.C26G:p.A9G;	7.2741507019561E-5	0.06
18	72223574	C	T	18	74556339	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.C26T:p.A9V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.C26T:p.A9V;	1.99732695626502E-4	0.036
18	72223699	C	A	18	74556464	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.C151A:p.Q51K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.C151A:p.Q51K;	5.15021561045717E-4	0.048
18	72223699	C	G	18	74556464	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.C151G:p.Q51E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.C151G:p.Q51E;	6.15212126323459E-4	0.13
18	72223699	C	T	18	74556464	y	y	exonic	CNDP1	stopgain SNV	CNDP1:NM_032649:exon2:c.C151T:p.Q51X;	exonic	ENSG00000150656	stopgain SNV	ENSG00000150656:ENST00000358821:exon2:c.C151T:p.Q51X;	0.992458097835024	0.85
18	72223700	A	C	18	74556465	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.A152C:p.Q51P;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.A152C:p.Q51P;	0.996751464630228	0.87
18	72223700	A	G	18	74556465	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.A152G:p.Q51R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.A152G:p.Q51R;	0.961094770787053	0.85
18	72223700	A	T	18	74556465	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.A152T:p.Q51L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.A152T:p.Q51L;	0.997014823514477	0.906
18	72223701	G	A	18	74556466	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon2:c.G153A:p.Q51Q;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.G153A:p.Q51Q;	0.999842014260146	0.974
18	72223701	G	C	18	74556466	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.G153C:p.Q51H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.G153C:p.Q51H;	0.999997897796025	0.994
18	72223701	G	T	18	74556466	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon2:c.G153T:p.Q51H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000358821:exon2:c.G153T:p.Q51H;	0.999987300503718	1.0
18	72223702	G	A	18	74556467	y	y	splicing	CNDP1(NM_032649:exon2:c.153+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.153+1G>A)	.	.	0.99995545544995	0.932
18	72223702	G	C	18	74556467	y	y	splicing	CNDP1(NM_032649:exon2:c.153+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.153+1G>C)	.	.	0.99995545544995	0.934
18	72223702	G	T	18	74556467	y	y	splicing	CNDP1(NM_032649:exon2:c.153+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.153+1G>T)	.	.	0.99995545544995	0.932
18	72223703	T	A	18	74556468	y	y	splicing	CNDP1(NM_032649:exon2:c.153+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.153+2T>A)	.	.	0.99994568797423	0.93
18	72223703	T	C	18	74556468	y	y	splicing	CNDP1(NM_032649:exon2:c.153+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.153+2T>C)	.	.	0.985124993549982	0.726
18	72223703	T	G	18	74556468	y	y	splicing	CNDP1(NM_032649:exon2:c.153+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon2:c.153+2T>G)	.	.	0.99994568797423	0.934
18	72223704	A	C	18	74556469	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.97975997961109	0.688
18	72223704	A	G	18	74556469	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.13997615462662	0.29
18	72223704	A	T	18	74556469	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.993645892686698	0.712
18	72223705	G	A	18	74556470	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.83638330587402E-4	0.058
18	72223705	G	C	18	74556470	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00153652452090707	0.132
18	72223705	G	T	18	74556470	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.60714927180199E-4	0.044
18	72223706	G	A	18	74556471	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.988429170451269	0.746
18	72223706	G	C	18	74556471	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999835272463764	0.874
18	72223706	G	T	18	74556471	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999945101850781	0.892
18	72223707	A	C	18	74556472	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.15968635618695E-4	0.026
18	72223707	A	G	18	74556472	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.45894921032983E-4	0.014
18	72223707	A	T	18	74556472	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.92868983583322E-5	0.016
18	72223708	G	A	18	74556473	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.69098420405439E-5	0.0
18	72223708	G	C	18	74556473	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.45043628155959E-5	0.008
18	72223708	G	T	18	74556473	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.6291964291088E-5	0.0
18	72223709	A	C	18	74556474	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.81474896170976E-5	0.0
18	72223709	A	G	18	74556474	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.81474896170976E-5	0.0
18	72223709	A	T	18	74556474	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95815540499835E-5	0.0
18	72226546	T	A	18	74559311	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00647869200996555	0.214
18	72226546	T	C	18	74559311	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.76967332796685E-4	0.026
18	72226546	T	G	18	74559311	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00315393401928993	0.158
18	72226547	C	A	18	74559312	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00140347861974924	0.04
18	72226547	C	G	18	74559312	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.91183267596496E-4	0.004
18	72226547	C	T	18	74559312	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.73644614627944E-5	0.0
18	72226548	T	A	18	74559313	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00307157727842393	0.162
18	72226548	T	C	18	74559313	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.80070197264473E-4	0.026
18	72226548	T	G	18	74559313	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00386250625249794	0.206
18	72226549	T	A	18	74559314	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0130560171331426	0.244
18	72226549	T	C	18	74559314	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.11269728510575E-4	0.002
18	72226549	T	G	18	74559314	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00661830094473437	0.258
18	72226550	C	A	18	74559315	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.22598044443113E-4	0.044
18	72226550	C	G	18	74559315	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.22358169309305E-4	0.014
18	72226550	C	T	18	74559315	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.63872781130778E-5	0.0
18	72226551	C	A	18	74559316	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.58999304992466E-4	0.052
18	72226551	C	G	18	74559316	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.76448908907308E-4	0.026
18	72226551	C	T	18	74559316	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.15549849717176E-5	0.0
18	72226552	T	A	18	74559317	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00697254401434825	0.088
18	72226552	T	C	18	74559317	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.76105806898604E-5	0.016
18	72226552	T	G	18	74559317	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0180962456010189	0.172
18	72226553	C	A	18	74559318	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00178180617677364	0.05
18	72226553	C	G	18	74559318	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00439889560101988	0.048
18	72226553	C	T	18	74559318	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.06023995388384E-5	0.0
18	72226554	C	A	18	74559319	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.67357023262996E-5	0.01
18	72226554	C	G	18	74559319	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.15373008390145E-5	0.006
18	72226554	C	T	18	74559319	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.13852835404639E-5	0.01
18	72226555	T	A	18	74559320	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0479594039794789	0.314
18	72226555	T	C	18	74559320	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.08233719672298E-5	0.0
18	72226555	T	G	18	74559320	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.580668621983477	0.62
18	72226556	A	C	18	74559321	y	y	splicing	CNDP1(NM_032649:exon3:c.154-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.154-2A>C;ENST00000582365:exon2:c.25-2A>C)	.	.	0.999986903042585	0.924
18	72226556	A	G	18	74559321	y	y	splicing	CNDP1(NM_032649:exon3:c.154-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.154-2A>G;ENST00000582365:exon2:c.25-2A>G)	.	.	0.999986903042585	0.924
18	72226556	A	T	18	74559321	y	y	splicing	CNDP1(NM_032649:exon3:c.154-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.154-2A>T;ENST00000582365:exon2:c.25-2A>T)	.	.	0.999989917668626	0.926
18	72226557	G	A	18	74559322	y	y	splicing	CNDP1(NM_032649:exon3:c.154-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.154-1G>A;ENST00000582365:exon2:c.25-1G>A)	.	.	0.999981760802075	0.938
18	72226557	G	C	18	74559322	y	y	splicing	CNDP1(NM_032649:exon3:c.154-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.154-1G>C;ENST00000582365:exon2:c.25-1G>C)	.	.	0.999981760802075	0.938
18	72226557	G	T	18	74559322	y	y	splicing	CNDP1(NM_032649:exon3:c.154-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.154-1G>T;ENST00000582365:exon2:c.25-1G>T)	.	.	0.999981760802075	0.938
18	72226558	A	C	18	74559323	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.A154C:p.T52P;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.A25C:p.T9P;ENSG00000150656:ENST00000358821:exon3:c.A154C:p.T52P;	0.00142240070832489	0.034
18	72226558	A	G	18	74559323	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.A154G:p.T52A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.A25G:p.T9A;ENSG00000150656:ENST00000358821:exon3:c.A154G:p.T52A;	7.91220577059246E-5	0.0
18	72226558	A	T	18	74559323	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.A154T:p.T52S;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.A25T:p.T9S;ENSG00000150656:ENST00000358821:exon3:c.A154T:p.T52S;	9.54612742446403E-4	0.012
18	72226559	C	A	18	74559324	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.C155A:p.T52K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.C26A:p.T9K;ENSG00000150656:ENST00000358821:exon3:c.C155A:p.T52K;	7.0644319125964E-5	0.004
18	72226559	C	G	18	74559324	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.C155G:p.T52R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.C26G:p.T9R;ENSG00000150656:ENST00000358821:exon3:c.C155G:p.T52R;	1.37692992248644E-5	0.0
18	72226559	C	T	18	74559324	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.C155T:p.T52M;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.C26T:p.T9M;ENSG00000150656:ENST00000358821:exon3:c.C155T:p.T52M;	2.00573705121924E-5	0.01
18	72226705	C	A	18	74559470	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.C301A:p.Q101K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.C172A:p.Q58K;ENSG00000150656:ENST00000358821:exon3:c.C301A:p.Q101K;	3.37402535592915E-4	0.106
18	72226705	C	G	18	74559470	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.C301G:p.Q101E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.C172G:p.Q58E;ENSG00000150656:ENST00000358821:exon3:c.C301G:p.Q101E;	0.0620565038703708	0.256
18	72226705	C	T	18	74559470	y	y	exonic	CNDP1	stopgain SNV	CNDP1:NM_032649:exon3:c.C301T:p.Q101X;	exonic	ENSG00000150656	stopgain SNV	ENSG00000150656:ENST00000582365:exon2:c.C172T:p.Q58X;ENSG00000150656:ENST00000358821:exon3:c.C301T:p.Q101X;	0.994917488156076	0.806
18	72226706	A	C	18	74559471	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.A302C:p.Q101P;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.A173C:p.Q58P;ENSG00000150656:ENST00000358821:exon3:c.A302C:p.Q101P;	0.997930153788042	0.88
18	72226706	A	G	18	74559471	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.A302G:p.Q101R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.A173G:p.Q58R;ENSG00000150656:ENST00000358821:exon3:c.A302G:p.Q101R;	0.999779284560906	0.99
18	72226706	A	T	18	74559471	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.A302T:p.Q101L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.A173T:p.Q58L;ENSG00000150656:ENST00000358821:exon3:c.A302T:p.Q101L;	0.999857804914954	0.986
18	72226707	G	A	18	74559472	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon3:c.G303A:p.Q101Q;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.G174A:p.Q58Q;ENSG00000150656:ENST00000358821:exon3:c.G303A:p.Q101Q;	0.99995925780451	0.988
18	72226707	G	C	18	74559472	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.G303C:p.Q101H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.G174C:p.Q58H;ENSG00000150656:ENST00000358821:exon3:c.G303C:p.Q101H;	0.999988215030043	0.994
18	72226707	G	T	18	74559472	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon3:c.G303T:p.Q101H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon2:c.G174T:p.Q58H;ENSG00000150656:ENST00000358821:exon3:c.G303T:p.Q101H;	0.99997723273018	0.998
18	72226708	G	A	18	74559473	y	y	splicing	CNDP1(NM_032649:exon3:c.303+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.303+1G>A;ENST00000582365:exon2:c.174+1G>A)	.	.	0.999930475976527	0.934
18	72226708	G	C	18	74559473	y	y	splicing	CNDP1(NM_032649:exon3:c.303+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.303+1G>C;ENST00000582365:exon2:c.174+1G>C)	.	.	0.999930475976527	0.942
18	72226708	G	T	18	74559473	y	y	splicing	CNDP1(NM_032649:exon3:c.303+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.303+1G>T;ENST00000582365:exon2:c.174+1G>T)	.	.	0.999930475976527	0.944
18	72226709	T	A	18	74559474	y	y	splicing	CNDP1(NM_032649:exon3:c.303+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.303+2T>A;ENST00000582365:exon2:c.174+2T>A)	.	.	0.999972123862924	0.932
18	72226709	T	C	18	74559474	y	y	splicing	CNDP1(NM_032649:exon3:c.303+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.303+2T>C;ENST00000582365:exon2:c.174+2T>C)	.	.	0.999970564045184	0.958
18	72226709	T	G	18	74559474	y	y	splicing	CNDP1(NM_032649:exon3:c.303+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon3:c.303+2T>G;ENST00000582365:exon2:c.174+2T>G)	.	.	0.999981815282056	0.942
18	72226710	G	A	18	74559475	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.64564927991302E-5	0.062
18	72226710	G	C	18	74559475	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.760099334659407	0.646
18	72226710	G	T	18	74559475	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.613887211364666	0.618
18	72226711	C	A	18	74559476	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.22712062580472E-4	0.024
18	72226711	C	G	18	74559476	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00153575727935635	0.114
18	72226711	C	T	18	74559476	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.18623129457974E-4	0.086
18	72226712	T	A	18	74559477	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.85011945316774E-5	0.012
18	72226712	T	C	18	74559477	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.87037646857285E-6	0.002
18	72226712	T	G	18	74559477	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.18760020374166E-5	0.002
18	72226713	G	A	18	74559478	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.51158687680492E-4	0.08
18	72226713	G	C	18	74559478	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.4682055370047E-4	0.056
18	72226713	G	T	18	74559478	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.92875883115276E-5	0.068
18	72226714	T	A	18	74559479	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.13680143020941E-5	0.004
18	72226714	T	C	18	74559479	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.35930682267536E-5	0.0
18	72226714	T	G	18	74559479	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.35930682267536E-5	0.0
18	72226715	A	C	18	74559480	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.26501254653793E-5	0.0
18	72226715	A	G	18	74559480	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.83277102901073E-5	0.0
18	72226715	A	T	18	74559480	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.13428498492612E-5	0.0
18	72228079	A	C	18	74560844	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.74501170150126E-5	0.0
18	72228079	A	G	18	74560844	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.16921383122819E-5	0.01
18	72228079	A	T	18	74560844	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.06328864269884E-5	0.004
18	72228080	T	A	18	74560845	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.874228022783522	0.61
18	72228080	T	C	18	74560845	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.20780863215007	0.412
18	72228080	T	G	18	74560845	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999969445544493	0.954
18	72228081	C	A	18	74560846	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.86806079123388E-4	0.04
18	72228081	C	G	18	74560846	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00194543421170107	0.092
18	72228081	C	T	18	74560846	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.35082844333272E-5	0.0
18	72228082	A	C	18	74560847	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95076949036759E-5	0.0
18	72228082	A	G	18	74560847	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.57853609074175E-5	0.0
18	72228082	A	T	18	74560847	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.18681539435057E-5	0.002
18	72228083	T	A	18	74560848	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00648922403810107	0.132
18	72228083	T	C	18	74560848	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.94403144967453E-5	0.004
18	72228083	T	G	18	74560848	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999953562534861	0.984
18	72228084	T	A	18	74560849	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0898252058437447	0.276
18	72228084	T	C	18	74560849	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.78692320274594E-5	0.022
18	72228084	T	G	18	74560849	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.253918373868226	0.31
18	72228085	C	A	18	74560850	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00142051313696445	0.14
18	72228085	C	G	18	74560850	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00107599102148902	0.064
18	72228085	C	T	18	74560850	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.77233071577168E-5	0.0
18	72228086	T	A	18	74560851	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999963528032306	0.962
18	72228086	T	C	18	74560851	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.39821033653058E-4	0.038
18	72228086	T	G	18	74560851	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.97328260184456	0.532
18	72228087	G	A	18	74560852	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.77925464681556E-4	0.006
18	72228087	G	C	18	74560852	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.73308027376195E-5	0.028
18	72228087	G	T	18	74560852	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.76214127355375E-4	0.048
18	72228088	C	A	18	74560853	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.985847656661562	0.86
18	72228088	C	G	18	74560853	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999740138149043	0.948
18	72228088	C	T	18	74560853	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0702046980268397	0.414
18	72228089	A	C	18	74560854	y	y	splicing	CNDP1(NM_032649:exon4:c.304-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.304-2A>C;ENST00000582365:exon3:c.175-2A>C)	.	.	0.999982151912279	0.892
18	72228089	A	G	18	74560854	y	y	splicing	CNDP1(NM_032649:exon4:c.304-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.304-2A>G;ENST00000582365:exon3:c.175-2A>G)	.	.	0.999982151912279	0.892
18	72228089	A	T	18	74560854	y	y	splicing	CNDP1(NM_032649:exon4:c.304-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.304-2A>T;ENST00000582365:exon3:c.175-2A>T)	.	.	0.999970104448312	0.868
18	72228090	G	A	18	74560855	y	y	splicing	CNDP1(NM_032649:exon4:c.304-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.304-1G>A;ENST00000582365:exon3:c.175-1G>A)	.	.	0.999945520654368	0.944
18	72228090	G	C	18	74560855	y	y	splicing	CNDP1(NM_032649:exon4:c.304-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.304-1G>C;ENST00000582365:exon3:c.175-1G>C)	.	.	0.999925439713521	0.9
18	72228090	G	T	18	74560855	y	y	splicing	CNDP1(NM_032649:exon4:c.304-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.304-1G>T;ENST00000582365:exon3:c.175-1G>T)	.	.	0.999943620371814	0.942
18	72228091	C	A	18	74560856	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.C304A:p.L102M;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.C175A:p.L59M;ENSG00000150656:ENST00000358821:exon4:c.C304A:p.L102M;	1.43911755284158E-4	0.002
18	72228091	C	G	18	74560856	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.C304G:p.L102V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.C175G:p.L59V;ENSG00000150656:ENST00000358821:exon4:c.C304G:p.L102V;	7.00865799849963E-4	0.19
18	72228091	C	T	18	74560856	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon4:c.C304T:p.L102L;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.C175T:p.L59L;ENSG00000150656:ENST00000358821:exon4:c.C304T:p.L102L;	7.84942430603618E-4	0.09
18	72228092	T	A	18	74560857	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.T305A:p.L102Q;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.T176A:p.L59Q;ENSG00000150656:ENST00000358821:exon4:c.T305A:p.L102Q;	0.182125377344278	0.368
18	72228092	T	C	18	74560857	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.T305C:p.L102P;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.T176C:p.L59P;ENSG00000150656:ENST00000358821:exon4:c.T305C:p.L102P;	0.143070101953076	0.406
18	72228092	T	G	18	74560857	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.T305G:p.L102R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.T176G:p.L59R;ENSG00000150656:ENST00000358821:exon4:c.T305G:p.L102R;	0.096090412943977	0.236
18	72228251	A	C	18	74561016	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.A464C:p.D155A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.A335C:p.D112A;ENSG00000150656:ENST00000358821:exon4:c.A464C:p.D155A;	0.319203899659299	0.49
18	72228251	A	G	18	74561016	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.A464G:p.D155G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.A335G:p.D112G;ENSG00000150656:ENST00000358821:exon4:c.A464G:p.D155G;	0.414498358363399	0.47
18	72228251	A	T	18	74561016	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.A464T:p.D155V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.A335T:p.D112V;ENSG00000150656:ENST00000358821:exon4:c.A464T:p.D155V;	0.982947955257942	0.646
18	72228252	C	A	18	74561017	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.C465A:p.D155E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.C336A:p.D112E;ENSG00000150656:ENST00000358821:exon4:c.C465A:p.D155E;	1.98043947502433E-5	0.198
18	72228252	C	G	18	74561017	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.C465G:p.D155E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.C336G:p.D112E;ENSG00000150656:ENST00000358821:exon4:c.C465G:p.D155E;	0.00353861838500926	0.254
18	72228252	C	T	18	74561017	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon4:c.C465T:p.D155D;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.C336T:p.D112D;ENSG00000150656:ENST00000358821:exon4:c.C465T:p.D155D;	2.64959355323532E-4	0.152
18	72228253	G	A	18	74561018	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.G466A:p.G156R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.G337A:p.G113R;ENSG00000150656:ENST00000358821:exon4:c.G466A:p.G156R;	0.99999172918146	0.972
18	72228253	G	C	18	74561018	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.G466C:p.G156R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.G337C:p.G113R;ENSG00000150656:ENST00000358821:exon4:c.G466C:p.G156R;	0.999987663492426	0.984
18	72228253	G	T	18	74561018	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon4:c.G466T:p.G156W;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon3:c.G337T:p.G113W;ENSG00000150656:ENST00000358821:exon4:c.G466T:p.G156W;	0.999970810719418	0.98
18	72228254	G	A	18	74561019	y	y	splicing	CNDP1(NM_032649:exon4:c.466+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.466+1G>A;ENST00000582365:exon3:c.337+1G>A)	.	.	0.999955485601963	0.912
18	72228254	G	C	18	74561019	y	y	splicing	CNDP1(NM_032649:exon4:c.466+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.466+1G>C;ENST00000582365:exon3:c.337+1G>C)	.	.	0.999956785519844	0.886
18	72228254	G	T	18	74561019	y	y	splicing	CNDP1(NM_032649:exon4:c.466+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.466+1G>T;ENST00000582365:exon3:c.337+1G>T)	.	.	0.999956785519844	0.864
18	72228255	T	A	18	74561020	y	y	splicing	CNDP1(NM_032649:exon4:c.466+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.466+2T>A;ENST00000582365:exon3:c.337+2T>A)	.	.	0.999972871252391	0.894
18	72228255	T	C	18	74561020	y	y	splicing	CNDP1(NM_032649:exon4:c.466+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.466+2T>C;ENST00000582365:exon3:c.337+2T>C)	.	.	0.999698662342374	0.874
18	72228255	T	G	18	74561020	y	y	splicing	CNDP1(NM_032649:exon4:c.466+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon4:c.466+2T>G;ENST00000582365:exon3:c.337+2T>G)	.	.	0.999972155025474	0.876
18	72228256	C	A	18	74561021	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.54055619989176E-4	0.2
18	72228256	C	G	18	74561021	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.51340808663968E-4	0.212
18	72228256	C	T	18	74561021	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.91138059311149E-5	0.008
18	72228257	A	C	18	74561022	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.96018129762769	0.686
18	72228257	A	G	18	74561022	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.809549941830853	0.662
18	72228257	A	T	18	74561022	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.9507170053783	0.726
18	72228258	G	A	18	74561023	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999915017377457	0.962
18	72228258	G	C	18	74561023	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999981139120646	0.992
18	72228258	G	T	18	74561023	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999964150848756	0.978
18	72228259	T	A	18	74561024	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.861881148509942	0.566
18	72228259	T	C	18	74561024	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.957381079669715	0.762
18	72228259	T	G	18	74561024	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.984909461587768	0.75
18	72228260	G	A	18	74561025	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.69472462972064E-4	0.0
18	72228260	G	C	18	74561025	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.69472462972064E-4	0.002
18	72228260	G	T	18	74561025	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.70942249212797E-4	0.076
18	72228261	A	C	18	74561026	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.50357335416816E-5	0.0
18	72228261	A	G	18	74561026	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.06202552741931E-4	0.026
18	72228261	A	T	18	74561026	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.80014916385417E-5	0.0
18	72229270	C	A	18	74562035	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	4.28613040423283E-4	0.112
18	72229270	C	G	18	74562035	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	1.63907678626654E-4	0.066
18	72229270	C	T	18	74562035	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	7.0943221348139E-5	0.002
18	72229271	C	A	18	74562036	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	2.59444014196145E-4	0.052
18	72229271	C	G	18	74562036	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	3.98086378304207E-5	0.032
18	72229271	C	T	18	74562036	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	9.99586486770397E-6	0.002
18	72229272	C	A	18	74562037	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	5.6955589216215E-5	0.006
18	72229272	C	G	18	74562037	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	3.82572681117521E-5	0.006
18	72229272	C	T	18	74562037	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	1.98217107938215E-5	0.0
18	72229273	T	A	18	74562038	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	7.63997837383647E-4	0.1
18	72229273	T	C	18	74562038	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	6.03559091365169E-5	0.002
18	72229273	T	G	18	74562038	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	4.2721911348622E-4	0.096
18	72229274	T	A	18	74562039	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	7.07484628613661E-4	0.096
18	72229274	T	C	18	74562039	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	5.54615816160019E-5	0.0
18	72229274	T	G	18	74562039	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	4.76996541078125E-4	0.06
18	72229275	T	A	18	74562040	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.00504987590668487	0.092
18	72229275	T	C	18	74562040	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	1.93175148586394E-4	0.01
18	72229275	T	G	18	74562040	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.00278464346417293	0.1
18	72229276	T	A	18	74562041	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	1.70903004182711E-4	0.076
18	72229276	T	C	18	74562041	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	1.0152294557219E-5	0.0
18	72229276	T	G	18	74562041	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	2.63466823125546E-4	0.082
18	72229277	T	A	18	74562042	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.0243039612460353	0.188
18	72229277	T	C	18	74562042	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	2.81208257543076E-4	0.016
18	72229277	T	G	18	74562042	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.165800568405833	0.302
18	72229278	A	C	18	74562043	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	5.56352923565978E-5	0.0
18	72229278	A	G	18	74562043	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	1.00996487162016E-4	0.0
18	72229278	A	T	18	74562043	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	9.48948986842526E-5	0.004
18	72229279	A	C	18	74562044	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	6.77552315744622E-4	0.094
18	72229279	A	G	18	74562044	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.59014879450353	0.33
18	72229279	A	T	18	74562044	y	n	intronic	CNDP1	.	.	ncRNA_exonic	ENSG00000264340	.	.	5.83908941351321E-5	0.0
18	72229280	A	C	18	74562045	y	n	splicing	CNDP1(NM_032649:exon5:c.467-2A>C)	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.999990611969007	0.894
18	72229280	A	G	18	74562045	y	n	splicing	CNDP1(NM_032649:exon5:c.467-2A>G)	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.999990611969007	0.894
18	72229280	A	T	18	74562045	y	n	splicing	CNDP1(NM_032649:exon5:c.467-2A>T)	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.999990611969007	0.896
18	72229281	G	A	18	74562046	y	n	splicing	CNDP1(NM_032649:exon5:c.467-1G>A)	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.999964896440643	0.93
18	72229281	G	C	18	74562046	y	n	splicing	CNDP1(NM_032649:exon5:c.467-1G>C)	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.999971317418422	0.892
18	72229281	G	T	18	74562046	y	n	splicing	CNDP1(NM_032649:exon5:c.467-1G>T)	.	.	ncRNA_exonic	ENSG00000264340	.	.	0.999951957019574	0.87
18	72229282	G	A	18	74562047	y	n	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.G467A:p.G156E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.G338A:p.G113E;ENSG00000150656:ENST00000358821:exon5:c.G467A:p.G156E;	0.547518841530549	0.538
18	72229282	G	C	18	74562047	y	n	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.G467C:p.G156A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.G338C:p.G113A;ENSG00000150656:ENST00000358821:exon5:c.G467C:p.G156A;	0.822835154783431	0.598
18	72229282	G	T	18	74562047	y	n	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.G467T:p.G156V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.G338T:p.G113V;ENSG00000150656:ENST00000358821:exon5:c.G467T:p.G156V;	0.99963561162769	0.978
18	72229283	G	A	18	74562048	y	n	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon5:c.G468A:p.G156G;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.G339A:p.G113G;ENSG00000150656:ENST00000358821:exon5:c.G468A:p.G156G;	7.86612767811035E-5	0.0
18	72229283	G	C	18	74562048	y	n	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon5:c.G468C:p.G156G;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.G339C:p.G113G;ENSG00000150656:ENST00000358821:exon5:c.G468C:p.G156G;	9.86258818309929E-5	0.0
18	72229283	G	T	18	74562048	y	n	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon5:c.G468T:p.G156G;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.G339T:p.G113G;ENSG00000150656:ENST00000358821:exon5:c.G468T:p.G156G;	2.12683587959745E-5	0.0
18	72229368	C	A	18	74562133	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.C553A:p.Q185K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.C424A:p.Q142K;ENSG00000150656:ENST00000358821:exon5:c.C553A:p.Q185K;	5.21602796946429E-5	0.06
18	72229368	C	G	18	74562133	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.C553G:p.Q185E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.C424G:p.Q142E;ENSG00000150656:ENST00000358821:exon5:c.C553G:p.Q185E;	0.00161435731937172	0.074
18	72229368	C	T	18	74562133	y	y	exonic	CNDP1	stopgain SNV	CNDP1:NM_032649:exon5:c.C553T:p.Q185X;	exonic	ENSG00000150656	stopgain SNV	ENSG00000150656:ENST00000582365:exon4:c.C424T:p.Q142X;ENSG00000150656:ENST00000358821:exon5:c.C553T:p.Q185X;	0.994651054105486	0.898
18	72229369	A	C	18	74562134	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.A554C:p.Q185P;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.A425C:p.Q142P;ENSG00000150656:ENST00000358821:exon5:c.A554C:p.Q185P;	0.949424427738242	0.762
18	72229369	A	G	18	74562134	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.A554G:p.Q185R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.A425G:p.Q142R;ENSG00000150656:ENST00000358821:exon5:c.A554G:p.Q185R;	0.483948381010856	0.55
18	72229369	A	T	18	74562134	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.A554T:p.Q185L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.A425T:p.Q142L;ENSG00000150656:ENST00000358821:exon5:c.A554T:p.Q185L;	0.969223090512641	0.75
18	72229370	A	C	18	74562135	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.A555C:p.Q185H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.A426C:p.Q142H;ENSG00000150656:ENST00000358821:exon5:c.A555C:p.Q185H;	1.06272869313863E-4	0.05
18	72229370	A	G	18	74562135	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon5:c.A555G:p.Q185Q;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.A426G:p.Q142Q;ENSG00000150656:ENST00000358821:exon5:c.A555G:p.Q185Q;	5.85302185593182E-4	0.162
18	72229370	A	T	18	74562135	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon5:c.A555T:p.Q185H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon4:c.A426T:p.Q142H;ENSG00000150656:ENST00000358821:exon5:c.A555T:p.Q185H;	0.00124116575971967	0.092
18	72229371	G	A	18	74562136	y	y	splicing	CNDP1(NM_032649:exon5:c.555+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon5:c.555+1G>A;ENST00000582365:exon4:c.426+1G>A;ENST00000584316:exon2:c.138+1G>A)	.	.	0.999970890420065	0.81
18	72229371	G	C	18	74562136	y	y	splicing	CNDP1(NM_032649:exon5:c.555+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon5:c.555+1G>C;ENST00000582365:exon4:c.426+1G>C;ENST00000584316:exon2:c.138+1G>C)	.	.	0.999984483665306	0.79
18	72229371	G	T	18	74562136	y	y	splicing	CNDP1(NM_032649:exon5:c.555+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon5:c.555+1G>T;ENST00000582365:exon4:c.426+1G>T;ENST00000584316:exon2:c.138+1G>T)	.	.	0.999984483665306	0.808
18	72229372	T	A	18	74562137	y	y	splicing	CNDP1(NM_032649:exon5:c.555+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon5:c.555+2T>A;ENST00000582365:exon4:c.426+2T>A;ENST00000584316:exon2:c.138+2T>A)	.	.	0.999984688382212	0.81
18	72229372	T	C	18	74562137	y	y	splicing	CNDP1(NM_032649:exon5:c.555+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon5:c.555+2T>C;ENST00000582365:exon4:c.426+2T>C;ENST00000584316:exon2:c.138+2T>C)	.	.	0.928169749072169	0.54
18	72229372	T	G	18	74562137	y	y	splicing	CNDP1(NM_032649:exon5:c.555+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon5:c.555+2T>G;ENST00000582365:exon4:c.426+2T>G;ENST00000584316:exon2:c.138+2T>G)	.	.	0.99999183847187	0.794
18	72229373	A	C	18	74562138	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999676766544976	0.892
18	72229373	A	G	18	74562138	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.480680480011797	0.506
18	72229373	A	T	18	74562138	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.995968676646177	0.852
18	72229374	G	A	18	74562139	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.23995301858158E-4	0.22
18	72229374	G	C	18	74562139	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.93242814547598E-4	0.08
18	72229374	G	T	18	74562139	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.36976759540442E-4	0.036
18	72229375	G	A	18	74562140	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999964009303986	0.982
18	72229375	G	C	18	74562140	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999982543512607	0.996
18	72229375	G	T	18	74562140	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999958617277501	0.99
18	72229376	T	A	18	74562141	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.366702213073346	0.456
18	72229376	T	C	18	74562141	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.156189798695562	0.298
18	72229376	T	G	18	74562141	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.359722404647824	0.564
18	72229377	G	A	18	74562142	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.68873799223163E-4	0.05
18	72229377	G	C	18	74562142	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.38420069100712E-5	0.0
18	72229377	G	T	18	74562142	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.54782190019833E-5	0.0
18	72229378	G	A	18	74562143	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.3820512176818E-4	0.04
18	72229378	G	C	18	74562143	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.99769738680469E-5	0.0
18	72229378	G	T	18	74562143	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.96323034491673E-5	0.0
18	72234456	G	A	18	74567221	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.26560921906934E-4	0.004
18	72234456	G	C	18	74567221	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.43673631668907E-5	0.002
18	72234456	G	T	18	74567221	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.43673631668907E-5	0.008
18	72234457	T	A	18	74567222	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.25473300898228	0.52
18	72234457	T	C	18	74567222	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00361657891090243	0.264
18	72234457	T	G	18	74567222	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.321006716732961	0.578
18	72234458	T	A	18	74567223	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999871770372619	0.972
18	72234458	T	C	18	74567223	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.66172607873509E-4	0.036
18	72234458	T	G	18	74567223	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.267410522955413	0.58
18	72234459	G	A	18	74567224	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00463445066120061	0.032
18	72234459	G	C	18	74567224	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.28780030901304E-4	0.0
18	72234459	G	T	18	74567224	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.28780030901304E-4	0.014
18	72234460	T	A	18	74567225	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.919810241365588	0.624
18	72234460	T	C	18	74567225	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0102417341885861	0.098
18	72234460	T	G	18	74567225	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.451593289037722	0.438
18	72234461	T	A	18	74567226	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0583044480994751	0.154
18	72234461	T	C	18	74567226	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.31564007355321E-4	0.008
18	72234461	T	G	18	74567226	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0111285761004545	0.144
18	72234462	A	C	18	74567227	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.49423136177275E-4	0.004
18	72234462	A	G	18	74567227	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.60386089812709E-5	0.01
18	72234462	A	T	18	74567227	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.22344692759331E-4	0.03
18	72234463	C	A	18	74567228	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.61243081813094E-4	0.038
18	72234463	C	G	18	74567228	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.997353935289621	0.88
18	72234463	C	T	18	74567228	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.57624952346136E-5	0.026
18	72234464	T	A	18	74567229	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.40546685239968E-4	0.03
18	72234464	T	C	18	74567229	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.36466957573791E-4	0.018
18	72234464	T	G	18	74567229	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.10967481445078E-4	0.02
18	72234465	T	A	18	74567230	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.013914048838457	0.334
18	72234465	T	C	18	74567230	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.64833016650666E-5	0.024
18	72234465	T	G	18	74567230	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.996252194178487	0.744
18	72234466	A	C	18	74567231	y	y	splicing	CNDP1(NM_032649:exon6:c.556-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.556-2A>C;ENST00000582365:exon5:c.427-2A>C;ENST00000584316:exon3:c.139-2A>C)	.	.	0.999989917668626	0.924
18	72234466	A	G	18	74567231	y	y	splicing	CNDP1(NM_032649:exon6:c.556-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.556-2A>G;ENST00000582365:exon5:c.427-2A>G;ENST00000584316:exon3:c.139-2A>G)	.	.	0.999989917668626	0.924
18	72234466	A	T	18	74567231	y	y	splicing	CNDP1(NM_032649:exon6:c.556-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.556-2A>T;ENST00000582365:exon5:c.427-2A>T;ENST00000584316:exon3:c.139-2A>T)	.	.	0.999989917668626	0.924
18	72234467	G	A	18	74567232	y	y	splicing	CNDP1(NM_032649:exon6:c.556-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.556-1G>A;ENST00000582365:exon5:c.427-1G>A;ENST00000584316:exon3:c.139-1G>A)	.	.	0.999986675681007	0.94
18	72234467	G	C	18	74567232	y	y	splicing	CNDP1(NM_032649:exon6:c.556-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.556-1G>C;ENST00000582365:exon5:c.427-1G>C;ENST00000584316:exon3:c.139-1G>C)	.	.	0.999986675681007	0.938
18	72234467	G	T	18	74567232	y	y	splicing	CNDP1(NM_032649:exon6:c.556-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.556-1G>T;ENST00000582365:exon5:c.427-1G>T;ENST00000584316:exon3:c.139-1G>T)	.	.	0.999986675681007	0.94
18	72234468	G	A	18	74567233	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.G556A:p.D186N;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.G427A:p.D143N;ENSG00000150656:ENST00000358821:exon6:c.G556A:p.D186N;	0.999488749335497	0.95
18	72234468	G	C	18	74567233	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.G556C:p.D186H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.G427C:p.D143H;ENSG00000150656:ENST00000358821:exon6:c.G556C:p.D186H;	0.999908164986243	0.984
18	72234468	G	T	18	74567233	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.G556T:p.D186Y;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.G427T:p.D143Y;ENSG00000150656:ENST00000358821:exon6:c.G556T:p.D186Y;	0.999932913544148	0.984
18	72234469	A	C	18	74567234	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.A557C:p.D186A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.A428C:p.D143A;ENSG00000150656:ENST00000358821:exon6:c.A557C:p.D186A;	0.0196910780543789	0.138
18	72234469	A	G	18	74567234	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.A557G:p.D186G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.A428G:p.D143G;ENSG00000150656:ENST00000358821:exon6:c.A557G:p.D186G;	0.027347917103383	0.08
18	72234469	A	T	18	74567234	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.A557T:p.D186V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.A428T:p.D143V;ENSG00000150656:ENST00000358821:exon6:c.A557T:p.D186V;	0.284421460546263	0.504
18	72234666	G	A	18	74567431	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.G754A:p.E252K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.G625A:p.E209K;ENSG00000150656:ENST00000358821:exon6:c.G754A:p.E252K;	0.555704507292295	0.536
18	72234666	G	C	18	74567431	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.G754C:p.E252Q;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.G625C:p.E209Q;ENSG00000150656:ENST00000358821:exon6:c.G754C:p.E252Q;	0.00416562727876871	0.074
18	72234666	G	T	18	74567431	y	y	exonic	CNDP1	stopgain SNV	CNDP1:NM_032649:exon6:c.G754T:p.E252X;	exonic	ENSG00000150656	stopgain SNV	ENSG00000150656:ENST00000582365:exon5:c.G625T:p.E209X;ENSG00000150656:ENST00000358821:exon6:c.G754T:p.E252X;	0.985050145102609	0.718
18	72234667	A	C	18	74567432	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.A755C:p.E252A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.A626C:p.E209A;ENSG00000150656:ENST00000358821:exon6:c.A755C:p.E252A;	0.999715269692219	0.986
18	72234667	A	G	18	74567432	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.A755G:p.E252G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.A626G:p.E209G;ENSG00000150656:ENST00000358821:exon6:c.A755G:p.E252G;	0.999938260458756	0.994
18	72234667	A	T	18	74567432	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.A755T:p.E252V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.A626T:p.E209V;ENSG00000150656:ENST00000358821:exon6:c.A755T:p.E252V;	0.999948296984957	0.996
18	72234668	G	A	18	74567433	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon6:c.G756A:p.E252E;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.G627A:p.E209E;ENSG00000150656:ENST00000358821:exon6:c.G756A:p.E252E;	0.999993859440128	0.994
18	72234668	G	C	18	74567433	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.G756C:p.E252D;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.G627C:p.E209D;ENSG00000150656:ENST00000358821:exon6:c.G756C:p.E252D;	0.999995675051985	0.998
18	72234668	G	T	18	74567433	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon6:c.G756T:p.E252D;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon5:c.G627T:p.E209D;ENSG00000150656:ENST00000358821:exon6:c.G756T:p.E252D;	0.99998910517431	0.994
18	72234669	G	A	18	74567434	y	y	splicing	CNDP1(NM_032649:exon6:c.756+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.756+1G>A;ENST00000582365:exon5:c.627+1G>A;ENST00000584316:exon3:c.339+1G>A)	.	.	0.99994920976939	0.944
18	72234669	G	C	18	74567434	y	y	splicing	CNDP1(NM_032649:exon6:c.756+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.756+1G>C;ENST00000582365:exon5:c.627+1G>C;ENST00000584316:exon3:c.339+1G>C)	.	.	0.999966867239407	0.942
18	72234669	G	T	18	74567434	y	y	splicing	CNDP1(NM_032649:exon6:c.756+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.756+1G>T;ENST00000582365:exon5:c.627+1G>T;ENST00000584316:exon3:c.339+1G>T)	.	.	0.99994920976939	0.944
18	72234670	T	A	18	74567435	y	y	splicing	CNDP1(NM_032649:exon6:c.756+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.756+2T>A;ENST00000582365:exon5:c.627+2T>A;ENST00000584316:exon3:c.339+2T>A)	.	.	0.999981815282056	0.94
18	72234670	T	C	18	74567435	y	y	splicing	CNDP1(NM_032649:exon6:c.756+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.756+2T>C;ENST00000582365:exon5:c.627+2T>C;ENST00000584316:exon3:c.339+2T>C)	.	.	0.948242301341484	0.508
18	72234670	T	G	18	74567435	y	y	splicing	CNDP1(NM_032649:exon6:c.756+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon6:c.756+2T>G;ENST00000582365:exon5:c.627+2T>G;ENST00000584316:exon3:c.339+2T>G)	.	.	0.999981815282056	0.94
18	72234671	A	C	18	74567436	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999226134494493	0.842
18	72234671	A	G	18	74567436	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.990822742211749	0.756
18	72234671	A	T	18	74567436	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999226134494493	0.866
18	72234672	T	A	18	74567437	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.83712728866211E-4	0.112
18	72234672	T	C	18	74567437	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.69017866513375E-5	0.026
18	72234672	T	G	18	74567437	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.11652342695453E-4	0.086
18	72234673	C	A	18	74567438	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.07800054642717E-5	0.024
18	72234673	C	G	18	74567438	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.2819584967772E-5	0.012
18	72234673	C	T	18	74567438	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.6707379746942E-5	0.126
18	72234674	C	A	18	74567439	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.85084538808564E-5	0.096
18	72234674	C	G	18	74567439	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.5542182969334E-5	0.006
18	72234674	C	T	18	74567439	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.47525895344079E-5	0.0
18	72234675	A	C	18	74567440	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.65701126353795E-5	0.0
18	72234675	A	G	18	74567440	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.5904666539344E-5	0.002
18	72234675	A	T	18	74567440	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.19879425060046E-4	0.036
18	72234676	C	A	18	74567441	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.13772601388991E-4	0.0
18	72234676	C	G	18	74567441	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.49193787931913E-4	0.004
18	72234676	C	T	18	74567441	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.56571970194104E-4	0.004
18	72238409	T	A	18	74571174	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00181152744652207	0.07
18	72238409	T	C	18	74571174	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.86644507513557E-5	0.0
18	72238409	T	G	18	74571174	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.998007381863319	0.962
18	72238410	C	A	18	74571175	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.34457844996392E-4	0.076
18	72238410	C	G	18	74571175	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.85547148616273E-4	0.046
18	72238410	C	T	18	74571175	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.71514840225709E-4	0.002
18	72238411	T	A	18	74571176	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0353750405758254	0.26
18	72238411	T	C	18	74571176	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.94208776702971E-4	0.004
18	72238411	T	G	18	74571176	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0164906810479407	0.262
18	72238412	A	C	18	74571177	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.86982349901635E-5	0.01
18	72238412	A	G	18	74571177	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.76565105996551E-5	0.008
18	72238412	A	T	18	74571177	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.65384719650273E-5	0.0
18	72238413	C	A	18	74571178	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.73221329147271E-4	0.124
18	72238413	C	G	18	74571178	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.998050780792396	0.948
18	72238413	C	T	18	74571178	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.00073074206852E-5	0.0
18	72238414	T	A	18	74571179	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00694106618893882	0.104
18	72238414	T	C	18	74571179	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.15201032720151E-4	0.006
18	72238414	T	G	18	74571179	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0120922620597002	0.096
18	72238415	C	A	18	74571180	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.27202368968653E-4	0.082
18	72238415	C	G	18	74571180	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.85532981434171E-4	0.07
18	72238415	C	T	18	74571180	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.85375656538541E-5	0.0
18	72238416	T	A	18	74571181	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.989147690320208	0.796
18	72238416	T	C	18	74571181	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.42553072838214E-5	0.002
18	72238416	T	G	18	74571181	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0402650835555248	0.252
18	72238417	G	A	18	74571182	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.40140234543441E-5	0.006
18	72238417	G	C	18	74571182	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.93278070681562E-5	0.014
18	72238417	G	T	18	74571182	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.18750392961534E-5	0.014
18	72238418	C	A	18	74571183	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.595659767924576	0.472
18	72238418	C	G	18	74571183	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.997903899243139	0.918
18	72238418	C	T	18	74571183	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00108066254616358	0.052
18	72238419	A	C	18	74571184	y	y	splicing	CNDP1(NM_032649:exon7:c.757-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.757-2A>C;ENST00000582365:exon6:c.628-2A>C;ENST00000584316:exon4:c.340-2A>C)	.	.	0.999988247793601	0.93
18	72238419	A	G	18	74571184	y	y	splicing	CNDP1(NM_032649:exon7:c.757-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.757-2A>G;ENST00000582365:exon6:c.628-2A>G;ENST00000584316:exon4:c.340-2A>G)	.	.	0.999988247793601	0.93
18	72238419	A	T	18	74571184	y	y	splicing	CNDP1(NM_032649:exon7:c.757-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.757-2A>T;ENST00000582365:exon6:c.628-2A>T;ENST00000584316:exon4:c.340-2A>T)	.	.	0.999988247793601	0.932
18	72238420	G	A	18	74571185	y	y	splicing	CNDP1(NM_032649:exon7:c.757-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.757-1G>A;ENST00000582365:exon6:c.628-1G>A;ENST00000584316:exon4:c.340-1G>A)	.	.	0.999989072007339	0.934
18	72238420	G	C	18	74571185	y	y	splicing	CNDP1(NM_032649:exon7:c.757-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.757-1G>C;ENST00000582365:exon6:c.628-1G>C;ENST00000584316:exon4:c.340-1G>C)	.	.	0.999989072007339	0.934
18	72238420	G	T	18	74571185	y	y	splicing	CNDP1(NM_032649:exon7:c.757-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.757-1G>T;ENST00000582365:exon6:c.628-1G>T;ENST00000584316:exon4:c.340-1G>T)	.	.	0.999989072007339	0.934
18	72238421	G	A	18	74571186	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.G757A:p.V253M;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.G628A:p.V210M;ENSG00000150656:ENST00000358821:exon7:c.G757A:p.V253M;	0.998030931979013	0.834
18	72238421	G	C	18	74571186	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.G757C:p.V253L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.G628C:p.V210L;ENSG00000150656:ENST00000358821:exon7:c.G757C:p.V253L;	0.99967397002853	0.94
18	72238421	G	T	18	74571186	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.G757T:p.V253L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.G628T:p.V210L;ENSG00000150656:ENST00000358821:exon7:c.G757T:p.V253L;	0.999745432346556	0.978
18	72238422	T	A	18	74571187	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.T758A:p.V253E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.T629A:p.V210E;ENSG00000150656:ENST00000358821:exon7:c.T758A:p.V253E;	0.361806939528907	0.544
18	72238422	T	C	18	74571187	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.T758C:p.V253A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.T629C:p.V210A;ENSG00000150656:ENST00000358821:exon7:c.T758C:p.V253A;	0.350983266965389	0.522
18	72238422	T	G	18	74571187	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.T758G:p.V253G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.T629G:p.V210G;ENSG00000150656:ENST00000358821:exon7:c.T758G:p.V253G;	0.350983266965389	0.556
18	72238503	T	A	18	74571268	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.T839A:p.L280H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.T710A:p.L237H;ENSG00000150656:ENST00000358821:exon7:c.T839A:p.L280H;	0.7144071345873	0.626
18	72238503	T	C	18	74571268	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.T839C:p.L280P;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.T710C:p.L237P;ENSG00000150656:ENST00000358821:exon7:c.T839C:p.L280P;	0.766627947075861	0.562
18	72238503	T	G	18	74571268	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.T839G:p.L280R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.T710G:p.L237R;ENSG00000150656:ENST00000358821:exon7:c.T839G:p.L280R;	0.837047419791952	0.666
18	72238504	C	A	18	74571269	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon7:c.C840A:p.L280L;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.C711A:p.L237L;ENSG00000150656:ENST00000358821:exon7:c.C840A:p.L280L;	4.21317702732751E-5	0.078
18	72238504	C	G	18	74571269	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon7:c.C840G:p.L280L;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.C711G:p.L237L;ENSG00000150656:ENST00000358821:exon7:c.C840G:p.L280L;	1.2690593767564E-4	0.016
18	72238504	C	T	18	74571269	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon7:c.C840T:p.L280L;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.C711T:p.L237L;ENSG00000150656:ENST00000358821:exon7:c.C840T:p.L280L;	2.31954692256552E-4	0.104
18	72238505	G	A	18	74571270	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.G841A:p.G281S;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.G712A:p.G238S;ENSG00000150656:ENST00000358821:exon7:c.G841A:p.G281S;	0.999982088111483	1.0
18	72238505	G	C	18	74571270	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.G841C:p.G281R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.G712C:p.G238R;ENSG00000150656:ENST00000358821:exon7:c.G841C:p.G281R;	0.999996607216964	1.0
18	72238505	G	T	18	74571270	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon7:c.G841T:p.G281C;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon6:c.G712T:p.G238C;ENSG00000150656:ENST00000358821:exon7:c.G841T:p.G281C;	0.999983598682597	1.0
18	72238506	G	A	18	74571271	y	y	splicing	CNDP1(NM_032649:exon7:c.841+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.841+1G>A;ENST00000582365:exon6:c.712+1G>A;ENST00000584316:exon4:c.424+1G>A)	.	.	0.999993148181228	0.952
18	72238506	G	C	18	74571271	y	y	splicing	CNDP1(NM_032649:exon7:c.841+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.841+1G>C;ENST00000582365:exon6:c.712+1G>C;ENST00000584316:exon4:c.424+1G>C)	.	.	0.999991099472728	0.952
18	72238506	G	T	18	74571271	y	y	splicing	CNDP1(NM_032649:exon7:c.841+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.841+1G>T;ENST00000582365:exon6:c.712+1G>T;ENST00000584316:exon4:c.424+1G>T)	.	.	0.999993148181228	0.952
18	72238507	T	A	18	74571272	y	y	splicing	CNDP1(NM_032649:exon7:c.841+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.841+2T>A;ENST00000582365:exon6:c.712+2T>A;ENST00000584316:exon4:c.424+2T>A)	.	.	0.999939020951004	0.942
18	72238507	T	C	18	74571272	y	y	splicing	CNDP1(NM_032649:exon7:c.841+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.841+2T>C;ENST00000582365:exon6:c.712+2T>C;ENST00000584316:exon4:c.424+2T>C)	.	.	0.999838867502516	0.918
18	72238507	T	G	18	74571272	y	y	splicing	CNDP1(NM_032649:exon7:c.841+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon7:c.841+2T>G;ENST00000582365:exon6:c.712+2T>G;ENST00000584316:exon4:c.424+2T>G)	.	.	0.999939020951004	0.954
18	72238508	A	C	18	74571273	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999971212936973	0.966
18	72238508	A	G	18	74571273	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999066584329268	0.94
18	72238508	A	T	18	74571273	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999963539645919	0.988
18	72238509	A	C	18	74571274	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.998709248921908	0.78
18	72238509	A	G	18	74571274	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999803619982247	0.92
18	72238509	A	T	18	74571274	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.998587327264143	0.882
18	72238510	T	A	18	74571275	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.96599860745973E-5	0.026
18	72238510	T	C	18	74571275	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.90320038073531E-6	0.002
18	72238510	T	G	18	74571275	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.28583983253854E-5	0.022
18	72238511	G	A	18	74571276	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00111153667800721	0.032
18	72238511	G	C	18	74571276	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.05843908955973E-4	0.06
18	72238511	G	T	18	74571276	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.4548301270717E-4	0.046
18	72238512	C	A	18	74571277	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.09076764716332E-4	0.006
18	72238512	C	G	18	74571277	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.17053084446666E-4	0.036
18	72238512	C	T	18	74571277	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.51614320903064E-4	0.018
18	72238513	C	A	18	74571278	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95741081518996E-4	0.018
18	72238513	C	G	18	74571278	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.34097550599923E-5	0.0
18	72238513	C	T	18	74571278	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.1306052791624E-4	0.018
18	72243832	C	A	18	74576597	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.36389531769141E-5	0.032
18	72243832	C	G	18	74576597	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.36389531769141E-5	0.032
18	72243832	C	T	18	74576597	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.36389531769141E-5	0.032
18	72243833	A	C	18	74576598	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.80274866394675E-5	0.0
18	72243833	A	G	18	74576598	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.80274866394675E-5	0.0
18	72243833	A	T	18	74576598	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.27663100932972E-5	0.0
18	72243834	T	A	18	74576599	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.46619449921589E-5	0.002
18	72243834	T	C	18	74576599	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.59660858139777E-5	0.0
18	72243834	T	G	18	74576599	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.59660858139777E-5	0.0
18	72243835	T	A	18	74576600	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.78864525412067E-5	0.0
18	72243835	T	C	18	74576600	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.78864525412067E-5	0.0
18	72243835	T	G	18	74576600	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.78864525412067E-5	0.0
18	72243836	T	A	18	74576601	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.20590404879984E-5	0.004
18	72243836	T	C	18	74576601	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.20590404879984E-5	0.004
18	72243836	T	G	18	74576601	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.20590404879984E-5	0.004
18	72243837	G	A	18	74576602	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95241758590049E-5	0.002
18	72243837	G	C	18	74576602	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95241758590049E-5	0.002
18	72243837	G	T	18	74576602	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95241758590049E-5	0.002
18	72243838	T	A	18	74576603	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.78864525412067E-5	0.0
18	72243838	T	C	18	74576603	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.78864525412067E-5	0.0
18	72243838	T	G	18	74576603	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.78864525412067E-5	0.0
18	72243839	T	A	18	74576604	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.89925739660516E-5	0.004
18	72243839	T	C	18	74576604	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.31929338280547E-5	0.0
18	72243839	T	G	18	74576604	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.31929338280547E-5	0.0
18	72243840	G	A	18	74576605	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.49403053016175E-5	0.02
18	72243840	G	C	18	74576605	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.49403053016175E-5	0.006
18	72243840	G	T	18	74576605	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.49403053016175E-5	0.006
18	72243841	C	A	18	74576606	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.78864525412067E-5	0.0
18	72243841	C	G	18	74576606	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.78864525412067E-5	0.0
18	72243841	C	T	18	74576606	n	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.08802802279601E-5	0.0
18	72243842	A	C	18	74576607	n	y	intronic	CNDP1	.	.	splicing	ENSG00000150656(ENST00000584316:exon5:c.425-2A>C)	.	.	3.15849948155271E-5	0.0
18	72243842	A	G	18	74576607	n	y	intronic	CNDP1	.	.	splicing	ENSG00000150656(ENST00000584316:exon5:c.425-2A>G)	.	.	3.15849948155271E-5	0.0
18	72243842	A	T	18	74576607	n	y	intronic	CNDP1	.	.	splicing	ENSG00000150656(ENST00000584316:exon5:c.425-2A>T)	.	.	3.15849948155271E-5	0.0
18	72243843	G	A	18	74576608	n	y	intronic	CNDP1	.	.	splicing	ENSG00000150656(ENST00000584316:exon5:c.425-1G>A)	.	.	8.0410720894706E-5	0.006
18	72243843	G	C	18	74576608	n	y	intronic	CNDP1	.	.	splicing	ENSG00000150656(ENST00000584316:exon5:c.425-1G>C)	.	.	7.05722910735706E-5	0.0
18	72243843	G	T	18	74576608	n	y	intronic	CNDP1	.	.	splicing	ENSG00000150656(ENST00000584316:exon5:c.425-1G>T)	.	.	7.05722910735706E-5	0.004
18	72243844	G	A	18	74576609	n	y	intronic	CNDP1	.	.	UTR3	ENSG00000150656	.	.	1.46004206284423E-5	0.0
18	72243844	G	C	18	74576609	n	y	intronic	CNDP1	.	.	UTR3	ENSG00000150656	.	.	1.46004206284423E-5	0.0
18	72243844	G	T	18	74576609	n	y	intronic	CNDP1	.	.	UTR3	ENSG00000150656	.	.	1.46004206284423E-5	0.0
18	72243845	C	A	18	74576610	n	y	intronic	CNDP1	.	.	UTR3	ENSG00000150656	.	.	1.00675832680685E-4	0.0
18	72243845	C	G	18	74576610	n	y	intronic	CNDP1	.	.	UTR3	ENSG00000150656	.	.	1.00675832680685E-4	0.0
18	72243845	C	T	18	74576610	n	y	intronic	CNDP1	.	.	UTR3	ENSG00000150656	.	.	1.00675832680685E-4	0.002
18	72244092	T	A	18	74576857	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.998991934819923	0.926
18	72244092	T	C	18	74576857	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.08926723846349E-5	0.002
18	72244092	T	G	18	74576857	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00308654642604576	0.234
18	72244093	G	A	18	74576858	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.37087000980345E-5	0.014
18	72244093	G	C	18	74576858	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.13352776033764E-5	0.0
18	72244093	G	T	18	74576858	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.21916394850598E-5	0.0
18	72244094	T	A	18	74576859	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999508400596319	0.94
18	72244094	T	C	18	74576859	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.87540939781686E-5	0.008
18	72244094	T	G	18	74576859	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00507971104495836	0.236
18	72244095	G	A	18	74576860	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.50811933390481E-5	0.01
18	72244095	G	C	18	74576860	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.20880454054673E-5	0.0
18	72244095	G	T	18	74576860	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.92674958788106E-5	0.0
18	72244096	T	A	18	74576861	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0953941563949177	0.19
18	72244096	T	C	18	74576861	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.81885274272781E-4	0.008
18	72244096	T	G	18	74576861	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00469382159221916	0.202
18	72244097	T	A	18	74576862	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00154793501549344	0.07
18	72244097	T	C	18	74576862	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.15243709355329E-5	0.0
18	72244097	T	G	18	74576862	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00108602423344711	0.08
18	72244098	T	A	18	74576863	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00588932534077255	0.062
18	72244098	T	C	18	74576863	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.52307789185469E-5	0.0
18	72244098	T	G	18	74576863	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0042161050565913	0.076
18	72244099	T	A	18	74576864	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.960329888926795	0.818
18	72244099	T	C	18	74576864	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.6344173722607E-5	0.0
18	72244099	T	G	18	74576864	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0239755236378742	0.256
18	72244100	G	A	18	74576865	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.94716658651354E-5	0.0
18	72244100	G	C	18	74576865	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.14387701593437E-5	0.0
18	72244100	G	T	18	74576865	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.05048247033E-5	0.0
18	72244101	T	A	18	74576866	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.43446276385778E-4	0.014
18	72244101	T	C	18	74576866	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.19863487914305E-5	0.0
18	72244101	T	G	18	74576866	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.697828717724783	0.574
18	72244102	A	C	18	74576867	y	y	splicing	CNDP1(NM_032649:exon8:c.842-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.842-2A>C;ENST00000582365:exon7:c.713-2A>C)	.	.	0.999980255680118	0.772
18	72244102	A	G	18	74576867	y	y	splicing	CNDP1(NM_032649:exon8:c.842-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.842-2A>G;ENST00000582365:exon7:c.713-2A>G)	.	.	0.999980255680118	0.762
18	72244102	A	T	18	74576867	y	y	splicing	CNDP1(NM_032649:exon8:c.842-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.842-2A>T;ENST00000582365:exon7:c.713-2A>T)	.	.	0.999962958601995	0.792
18	72244103	G	A	18	74576868	y	y	splicing	CNDP1(NM_032649:exon8:c.842-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.842-1G>A;ENST00000582365:exon7:c.713-1G>A)	.	.	0.999965143305126	0.87
18	72244103	G	C	18	74576868	y	y	splicing	CNDP1(NM_032649:exon8:c.842-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.842-1G>C;ENST00000582365:exon7:c.713-1G>C)	.	.	0.999965143305126	0.854
18	72244103	G	T	18	74576868	y	y	splicing	CNDP1(NM_032649:exon8:c.842-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.842-1G>T;ENST00000582365:exon7:c.713-1G>T)	.	.	0.999965143305126	0.854
18	72244104	G	A	18	74576869	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.G842A:p.G281D;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.G713A:p.G238D;ENSG00000150656:ENST00000358821:exon8:c.G842A:p.G281D;	0.0454939914251643	0.468
18	72244104	G	C	18	74576869	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.G842C:p.G281A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.G713C:p.G238A;ENSG00000150656:ENST00000358821:exon8:c.G842C:p.G281A;	0.201403428350522	0.44
18	72244104	G	T	18	74576869	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.G842T:p.G281V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.G713T:p.G238V;ENSG00000150656:ENST00000358821:exon8:c.G842T:p.G281V;	0.968036618896365	0.806
18	72244105	T	A	18	74576870	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon8:c.T843A:p.G281G;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.T714A:p.G238G;ENSG00000150656:ENST00000358821:exon8:c.T843A:p.G281G;	1.33002506212623E-5	0.002
18	72244105	T	C	18	74576870	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon8:c.T843C:p.G281G;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.T714C:p.G238G;ENSG00000150656:ENST00000358821:exon8:c.T843C:p.G281G;	9.22558348830934E-6	0.018
18	72244105	T	G	18	74576870	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon8:c.T843G:p.G281G;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.T714G:p.G238G;ENSG00000150656:ENST00000358821:exon8:c.T843G:p.G281G;	9.22558348830934E-6	0.038
18	72244262	A	C	18	74577027	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.A1000C:p.K334Q;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.A871C:p.K291Q;ENSG00000150656:ENST00000358821:exon8:c.A1000C:p.K334Q;	6.87884116484079E-4	0.036
18	72244262	A	G	18	74577027	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.A1000G:p.K334E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.A871G:p.K291E;ENSG00000150656:ENST00000358821:exon8:c.A1000G:p.K334E;	0.00344175652995603	0.018
18	72244262	A	T	18	74577027	y	y	exonic	CNDP1	stopgain SNV	CNDP1:NM_032649:exon8:c.A1000T:p.K334X;	exonic	ENSG00000150656	stopgain SNV	ENSG00000150656:ENST00000582365:exon7:c.A871T:p.K291X;ENSG00000150656:ENST00000358821:exon8:c.A1000T:p.K334X;	0.246211647790751	0.518
18	72244263	A	C	18	74577028	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.A1001C:p.K334T;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.A872C:p.K291T;ENSG00000150656:ENST00000358821:exon8:c.A1001C:p.K334T;	0.993881011407926	0.92
18	72244263	A	G	18	74577028	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.A1001G:p.K334R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.A872G:p.K291R;ENSG00000150656:ENST00000358821:exon8:c.A1001G:p.K334R;	0.999149733445812	0.99
18	72244263	A	T	18	74577028	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.A1001T:p.K334M;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.A872T:p.K291M;ENSG00000150656:ENST00000358821:exon8:c.A1001T:p.K334M;	0.997315081841759	0.948
18	72244264	G	A	18	74577029	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon8:c.G1002A:p.K334K;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.G873A:p.K291K;ENSG00000150656:ENST00000358821:exon8:c.G1002A:p.K334K;	0.998300565543325	0.962
18	72244264	G	C	18	74577029	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.G1002C:p.K334N;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.G873C:p.K291N;ENSG00000150656:ENST00000358821:exon8:c.G1002C:p.K334N;	0.999992546404465	0.996
18	72244264	G	T	18	74577029	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon8:c.G1002T:p.K334N;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon7:c.G873T:p.K291N;ENSG00000150656:ENST00000358821:exon8:c.G1002T:p.K334N;	0.999949904658439	0.994
18	72244265	G	A	18	74577030	y	y	splicing	CNDP1(NM_032649:exon8:c.1002+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.1002+1G>A;ENST00000582365:exon7:c.873+1G>A)	.	.	0.999952286258862	0.868
18	72244265	G	C	18	74577030	y	y	splicing	CNDP1(NM_032649:exon8:c.1002+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.1002+1G>C;ENST00000582365:exon7:c.873+1G>C)	.	.	0.999952286258862	0.864
18	72244265	G	T	18	74577030	y	y	splicing	CNDP1(NM_032649:exon8:c.1002+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.1002+1G>T;ENST00000582365:exon7:c.873+1G>T)	.	.	0.999952286258862	0.874
18	72244266	T	A	18	74577031	y	y	splicing	CNDP1(NM_032649:exon8:c.1002+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.1002+2T>A;ENST00000582365:exon7:c.873+2T>A)	.	.	0.999980255680118	0.738
18	72244266	T	C	18	74577031	y	y	splicing	CNDP1(NM_032649:exon8:c.1002+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.1002+2T>C;ENST00000582365:exon7:c.873+2T>C)	.	.	0.860612599690811	0.48
18	72244266	T	G	18	74577031	y	y	splicing	CNDP1(NM_032649:exon8:c.1002+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon8:c.1002+2T>G;ENST00000582365:exon7:c.873+2T>G)	.	.	0.999984399620937	0.75
18	72244267	A	C	18	74577032	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.997755146608549	0.856
18	72244267	A	G	18	74577032	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.983327758306472	0.642
18	72244267	A	T	18	74577032	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.998979807246634	0.86
18	72244268	T	A	18	74577033	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.77355637958683E-5	0.016
18	72244268	T	C	18	74577033	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.52921939787684E-5	0.0
18	72244268	T	G	18	74577033	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.35668574813456E-5	0.01
18	72244269	G	A	18	74577034	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.143359889005491	0.436
18	72244269	G	C	18	74577034	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.38791446273602	0.47
18	72244269	G	T	18	74577034	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.624311336436336	0.434
18	72244270	G	A	18	74577035	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.4985088573463E-5	0.0
18	72244270	G	C	18	74577035	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.5915176942089E-5	0.0
18	72244270	G	T	18	74577035	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.35031423102131E-5	0.0
18	72244271	C	A	18	74577036	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.66672549778408E-5	0.0
18	72244271	C	G	18	74577036	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.33140141376577E-5	0.0
18	72244271	C	T	18	74577036	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.69642728282262E-5	0.0
18	72244272	C	A	18	74577037	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.1458693897638E-5	0.0
18	72244272	C	G	18	74577037	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.46538567538826E-5	0.0
18	72244272	C	T	18	74577037	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.1458693897638E-5	0.0
18	72245386	A	C	18	74578151	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.230898211058E-5	0.0
18	72245386	A	G	18	74578151	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.91658101549041E-5	0.022
18	72245386	A	T	18	74578151	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.32816777852467E-5	0.01
18	72245387	T	A	18	74578152	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.291577597957065	0.45
18	72245387	T	C	18	74578152	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00185483191025499	0.05
18	72245387	T	G	18	74578152	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999706119915647	0.956
18	72245388	T	A	18	74578153	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.107339983765871	0.362
18	72245388	T	C	18	74578153	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.69893714989324E-4	0.08
18	72245388	T	G	18	74578153	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0385202060525544	0.336
18	72245389	T	A	18	74578154	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0100253021826615	0.326
18	72245389	T	C	18	74578154	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.79735254142363E-4	0.068
18	72245389	T	G	18	74578154	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00687785817468908	0.242
18	72245390	T	A	18	74578155	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00570233489838228	0.294
18	72245390	T	C	18	74578155	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.37175352226325E-5	0.0
18	72245390	T	G	18	74578155	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00601235715728328	0.332
18	72245391	A	C	18	74578156	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.83713331839759E-4	0.016
18	72245391	A	G	18	74578156	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.49040691300461E-4	0.0
18	72245391	A	T	18	74578156	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.49313249052561E-4	0.0
18	72245392	A	C	18	74578157	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.80713675533745E-5	0.004
18	72245392	A	G	18	74578157	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.99958359509905	0.974
18	72245392	A	T	18	74578157	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.80713675533745E-5	0.02
18	72245393	T	A	18	74578158	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.111130836216043	0.444
18	72245393	T	C	18	74578158	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.5474376340999E-4	0.0
18	72245393	T	G	18	74578158	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999866018952462	0.954
18	72245394	A	C	18	74578159	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95642494945163E-4	0.11
18	72245394	A	G	18	74578159	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00117239095812956	0.044
18	72245394	A	T	18	74578159	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.06159852907238E-4	0.006
18	72245395	T	A	18	74578160	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0116431510920219	0.252
18	72245395	T	C	18	74578160	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.89601542414846E-5	0.006
18	72245395	T	G	18	74578160	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.885751234310164	0.584
18	72245396	A	C	18	74578161	y	y	splicing	CNDP1(NM_032649:exon9:c.1003-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1003-2A>C;ENST00000582365:exon8:c.874-2A>C)	.	.	0.99994568797423	0.962
18	72245396	A	G	18	74578161	y	y	splicing	CNDP1(NM_032649:exon9:c.1003-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1003-2A>G;ENST00000582365:exon8:c.874-2A>G)	.	.	0.99994568797423	0.964
18	72245396	A	T	18	74578161	y	y	splicing	CNDP1(NM_032649:exon9:c.1003-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1003-2A>T;ENST00000582365:exon8:c.874-2A>T)	.	.	0.99994568797423	0.956
18	72245397	G	A	18	74578162	y	y	splicing	CNDP1(NM_032649:exon9:c.1003-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1003-1G>A;ENST00000582365:exon8:c.874-1G>A)	.	.	0.99993097185176	0.948
18	72245397	G	C	18	74578162	y	y	splicing	CNDP1(NM_032649:exon9:c.1003-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1003-1G>C;ENST00000582365:exon8:c.874-1G>C)	.	.	0.999915655639342	0.946
18	72245397	G	T	18	74578162	y	y	splicing	CNDP1(NM_032649:exon9:c.1003-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1003-1G>T;ENST00000582365:exon8:c.874-1G>T)	.	.	0.999915655639342	0.948
18	72245398	G	A	18	74578163	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.G1003A:p.E335K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.G874A:p.E292K;ENSG00000150656:ENST00000358821:exon9:c.G1003A:p.E335K;	0.99978966757432	0.836
18	72245398	G	C	18	74578163	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.G1003C:p.E335Q;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.G874C:p.E292Q;ENSG00000150656:ENST00000358821:exon9:c.G1003C:p.E335Q;	0.999879726323261	0.978
18	72245398	G	T	18	74578163	y	y	exonic	CNDP1	stopgain SNV	CNDP1:NM_032649:exon9:c.G1003T:p.E335X;	exonic	ENSG00000150656	stopgain SNV	ENSG00000150656:ENST00000582365:exon8:c.G874T:p.E292X;ENSG00000150656:ENST00000358821:exon9:c.G1003T:p.E335X;	0.99995301087178	0.974
18	72245399	A	C	18	74578164	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.A1004C:p.E335A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.A875C:p.E292A;ENSG00000150656:ENST00000358821:exon9:c.A1004C:p.E335A;	0.0901373280056917	0.538
18	72245399	A	G	18	74578164	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.A1004G:p.E335G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.A875G:p.E292G;ENSG00000150656:ENST00000358821:exon9:c.A1004G:p.E335G;	0.661303298311809	0.594
18	72245399	A	T	18	74578164	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.A1004T:p.E335V;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.A875T:p.E292V;ENSG00000150656:ENST00000358821:exon9:c.A1004T:p.E335V;	0.0822304707623516	0.434
18	72245560	C	A	18	74578325	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.C1165A:p.Q389K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.C1036A:p.Q346K;ENSG00000150656:ENST00000358821:exon9:c.C1165A:p.Q389K;	0.952546236905288	0.728
18	72245560	C	G	18	74578325	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.C1165G:p.Q389E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.C1036G:p.Q346E;ENSG00000150656:ENST00000358821:exon9:c.C1165G:p.Q389E;	0.87207773433134	0.626
18	72245560	C	T	18	74578325	y	y	exonic	CNDP1	stopgain SNV	CNDP1:NM_032649:exon9:c.C1165T:p.Q389X;	exonic	ENSG00000150656	stopgain SNV	ENSG00000150656:ENST00000582365:exon8:c.C1036T:p.Q346X;ENSG00000150656:ENST00000358821:exon9:c.C1165T:p.Q389X;	0.99965509753515	0.952
18	72245561	A	C	18	74578326	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.A1166C:p.Q389P;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.A1037C:p.Q346P;ENSG00000150656:ENST00000358821:exon9:c.A1166C:p.Q389P;	0.998423414456686	0.944
18	72245561	A	G	18	74578326	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.A1166G:p.Q389R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.A1037G:p.Q346R;ENSG00000150656:ENST00000358821:exon9:c.A1166G:p.Q389R;	0.996112085027373	0.95
18	72245561	A	T	18	74578326	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.A1166T:p.Q389L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.A1037T:p.Q346L;ENSG00000150656:ENST00000358821:exon9:c.A1166T:p.Q389L;	0.992983249527148	0.732
18	72245562	G	A	18	74578327	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon9:c.G1167A:p.Q389Q;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.G1038A:p.Q346Q;ENSG00000150656:ENST00000358821:exon9:c.G1167A:p.Q389Q;	0.999968491644146	0.998
18	72245562	G	C	18	74578327	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.G1167C:p.Q389H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.G1038C:p.Q346H;ENSG00000150656:ENST00000358821:exon9:c.G1167C:p.Q389H;	0.99997526738954	1.0
18	72245562	G	T	18	74578327	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon9:c.G1167T:p.Q389H;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon8:c.G1038T:p.Q346H;ENSG00000150656:ENST00000358821:exon9:c.G1167T:p.Q389H;	0.99991277370092	0.986
18	72245563	G	A	18	74578328	y	y	splicing	CNDP1(NM_032649:exon9:c.1167+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1167+1G>A;ENST00000582365:exon8:c.1038+1G>A)	.	.	0.999985532734767	0.934
18	72245563	G	C	18	74578328	y	y	splicing	CNDP1(NM_032649:exon9:c.1167+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1167+1G>C;ENST00000582365:exon8:c.1038+1G>C)	.	.	0.999985532734767	0.934
18	72245563	G	T	18	74578328	y	y	splicing	CNDP1(NM_032649:exon9:c.1167+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1167+1G>T;ENST00000582365:exon8:c.1038+1G>T)	.	.	0.999985532734767	0.934
18	72245564	T	A	18	74578329	y	y	splicing	CNDP1(NM_032649:exon9:c.1167+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1167+2T>A;ENST00000582365:exon8:c.1038+2T>A)	.	.	0.999978952611685	0.928
18	72245564	T	C	18	74578329	y	y	splicing	CNDP1(NM_032649:exon9:c.1167+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1167+2T>C;ENST00000582365:exon8:c.1038+2T>C)	.	.	0.995550480548773	0.656
18	72245564	T	G	18	74578329	y	y	splicing	CNDP1(NM_032649:exon9:c.1167+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon9:c.1167+2T>G;ENST00000582365:exon8:c.1038+2T>G)	.	.	0.999978952611685	0.926
18	72245565	A	C	18	74578330	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999638191134551	0.946
18	72245565	A	G	18	74578330	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.992790144667002	0.824
18	72245565	A	T	18	74578330	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999793737646073	0.924
18	72245566	A	C	18	74578331	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.410087288144865	0.552
18	72245566	A	G	18	74578331	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.659069028133143	0.51
18	72245566	A	T	18	74578331	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.495667068064963	0.528
18	72245567	C	A	18	74578332	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.72756346992573E-5	0.014
18	72245567	C	G	18	74578332	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.6153573873076E-4	0.08
18	72245567	C	T	18	74578332	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.02929291422531E-4	0.0
18	72245568	A	C	18	74578333	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00273613220362584	0.044
18	72245568	A	G	18	74578333	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.23660661359342E-4	0.0
18	72245568	A	T	18	74578333	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.60805714676718E-4	0.012
18	72245569	A	C	18	74578334	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.4397131142504E-5	0.0
18	72245569	A	G	18	74578334	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.63126174707135E-5	0.0
18	72245569	A	T	18	74578334	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.78890319855431E-5	0.0
18	72245570	A	C	18	74578335	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.0339478167547E-5	0.0
18	72245570	A	G	18	74578335	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.85892088628007E-5	0.0
18	72245570	A	T	18	74578335	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.55591704267905E-5	0.0
18	72247354	G	A	18	74580118	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.45355211848325E-5	0.0
18	72247354	G	C	18	74580118	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.58645906776164E-5	0.0
18	72247354	G	T	18	74580118	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.67944982512943E-5	0.002
18	72247355	T	A	18	74580119	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.947265522329201	0.618
18	72247355	T	C	18	74580119	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00803257049303264	0.3
18	72247355	T	G	18	74580119	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.981967453586542	0.62
18	72247356	C	A	18	74580120	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95443978259259E-4	0.024
18	72247356	C	G	18	74580120	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.29420975488343E-4	0.018
18	72247356	C	T	18	74580120	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.66925944631665E-5	0.0
18	72247357	A	C	18	74580121	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.16533649699763E-5	0.0
18	72247357	A	G	18	74580121	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.93780032589337E-5	0.0
18	72247357	A	T	18	74580121	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.16533649699763E-5	0.032
18	72247358	C	A	18	74580122	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.67172739545042E-4	0.082
18	72247358	C	G	18	74580122	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999339680204762	0.976
18	72247358	C	T	18	74580122	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.49055944089396E-5	0.0
18	72247359	C	A	18	74580123	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.93100261333857E-4	0.052
18	72247359	C	G	18	74580123	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.93100261333857E-4	0.058
18	72247359	C	T	18	74580123	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.0939512333929E-5	0.0
18	72247360	T	A	18	74580124	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.0663103834303721	0.376
18	72247360	T	C	18	74580124	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.37028907881826E-4	0.04
18	72247360	T	G	18	74580124	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.105787776584247	0.436
18	72247361	T	A	18	74580125	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.945723763925628	0.584
18	72247361	T	C	18	74580125	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00691243782664472	0.16
18	72247361	T	G	18	74580125	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.941443946016316	0.58
18	72247362	T	A	18	74580126	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.30734891998775E-5	0.002
18	72247362	T	C	18	74580126	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.45288328480825E-5	0.044
18	72247362	T	G	18	74580126	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.92913388418946E-5	0.05
18	72247363	T	A	18	74580127	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00347006728621311	0.292
18	72247363	T	C	18	74580127	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.55945937154486E-5	0.05
18	72247363	T	G	18	74580127	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.965829283050772	0.656
18	72247364	A	C	18	74580128	y	y	splicing	CNDP1(NM_032649:exon10:c.1168-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1168-2A>C;ENST00000582365:exon9:c.1039-2A>C)	.	.	0.999972155025474	0.882
18	72247364	A	G	18	74580128	y	y	splicing	CNDP1(NM_032649:exon10:c.1168-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1168-2A>G;ENST00000582365:exon9:c.1039-2A>G)	.	.	0.999972155025474	0.884
18	72247364	A	T	18	74580128	y	y	splicing	CNDP1(NM_032649:exon10:c.1168-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1168-2A>T;ENST00000582365:exon9:c.1039-2A>T)	.	.	0.999982151912279	0.904
18	72247365	G	A	18	74580129	y	y	splicing	CNDP1(NM_032649:exon10:c.1168-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1168-1G>A;ENST00000582365:exon9:c.1039-1G>A)	.	.	0.99996748057446	0.92
18	72247365	G	C	18	74580129	y	y	splicing	CNDP1(NM_032649:exon10:c.1168-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1168-1G>C;ENST00000582365:exon9:c.1039-1G>C)	.	.	0.999969242257053	0.916
18	72247365	G	T	18	74580129	y	y	splicing	CNDP1(NM_032649:exon10:c.1168-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1168-1G>T;ENST00000582365:exon9:c.1039-1G>T)	.	.	0.99996748057446	0.92
18	72247366	G	A	18	74580130	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.G1168A:p.V390M;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.G1039A:p.V347M;ENSG00000150656:ENST00000358821:exon10:c.G1168A:p.V390M;	0.999612067134484	0.942
18	72247366	G	C	18	74580130	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.G1168C:p.V390L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.G1039C:p.V347L;ENSG00000150656:ENST00000358821:exon10:c.G1168C:p.V390L;	0.999758250477496	0.992
18	72247366	G	T	18	74580130	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.G1168T:p.V390L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.G1039T:p.V347L;ENSG00000150656:ENST00000358821:exon10:c.G1168T:p.V390L;	0.999887751668727	0.996
18	72247367	T	A	18	74580131	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.T1169A:p.V390E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.T1040A:p.V347E;ENSG00000150656:ENST00000358821:exon10:c.T1169A:p.V390E;	0.181410150566705	0.418
18	72247367	T	C	18	74580131	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.T1169C:p.V390A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.T1040C:p.V347A;ENSG00000150656:ENST00000358821:exon10:c.T1169C:p.V390A;	0.460534522010405	0.406
18	72247367	T	G	18	74580131	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.T1169G:p.V390G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.T1040G:p.V347G;ENSG00000150656:ENST00000358821:exon10:c.T1169G:p.V390G;	0.216944440129907	0.416
18	72247505	C	A	18	74580269	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.C1307A:p.T436K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.C1178A:p.T393K;ENSG00000150656:ENST00000358821:exon10:c.C1307A:p.T436K;	1.10264425173504E-4	0.026
18	72247505	C	G	18	74580269	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.C1307G:p.T436R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.C1178G:p.T393R;ENSG00000150656:ENST00000358821:exon10:c.C1307G:p.T436R;	0.0377981863404591	0.168
18	72247505	C	T	18	74580269	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.C1307T:p.T436I;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.C1178T:p.T393I;ENSG00000150656:ENST00000358821:exon10:c.C1307T:p.T436I;	0.755315546461627	0.61
18	72247506	A	C	18	74580270	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon10:c.A1308C:p.T436T;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.A1179C:p.T393T;ENSG00000150656:ENST00000358821:exon10:c.A1308C:p.T436T;	0.495314018599647	0.596
18	72247506	A	G	18	74580270	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon10:c.A1308G:p.T436T;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.A1179G:p.T393T;ENSG00000150656:ENST00000358821:exon10:c.A1308G:p.T436T;	0.98002105036306	0.746
18	72247506	A	T	18	74580270	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon10:c.A1308T:p.T436T;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.A1179T:p.T393T;ENSG00000150656:ENST00000358821:exon10:c.A1308T:p.T436T;	0.984741439097002	0.792
18	72247507	G	A	18	74580271	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.G1309A:p.V437M;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.G1180A:p.V394M;ENSG00000150656:ENST00000358821:exon10:c.G1309A:p.V437M;	0.999994836007358	1.0
18	72247507	G	C	18	74580271	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.G1309C:p.V437L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.G1180C:p.V394L;ENSG00000150656:ENST00000358821:exon10:c.G1309C:p.V437L;	0.999996807669914	1.0
18	72247507	G	T	18	74580271	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon10:c.G1309T:p.V437L;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon9:c.G1180T:p.V394L;ENSG00000150656:ENST00000358821:exon10:c.G1309T:p.V437L;	0.999982683430533	0.97
18	72247508	G	A	18	74580272	y	y	splicing	CNDP1(NM_032649:exon10:c.1309+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1309+1G>A;ENST00000582365:exon9:c.1180+1G>A)	.	.	0.999938422912956	0.944
18	72247508	G	C	18	74580272	y	y	splicing	CNDP1(NM_032649:exon10:c.1309+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1309+1G>C;ENST00000582365:exon9:c.1180+1G>C)	.	.	0.999938422912956	0.948
18	72247508	G	T	18	74580272	y	y	splicing	CNDP1(NM_032649:exon10:c.1309+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1309+1G>T;ENST00000582365:exon9:c.1180+1G>T)	.	.	0.999938422912956	0.948
18	72247509	T	A	18	74580273	y	y	splicing	CNDP1(NM_032649:exon10:c.1309+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1309+2T>A;ENST00000582365:exon9:c.1180+2T>A)	.	.	0.999938221968836	0.894
18	72247509	T	C	18	74580273	y	y	splicing	CNDP1(NM_032649:exon10:c.1309+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1309+2T>C;ENST00000582365:exon9:c.1180+2T>C)	.	.	0.999761001282739	0.882
18	72247509	T	G	18	74580273	y	y	splicing	CNDP1(NM_032649:exon10:c.1309+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon10:c.1309+2T>G;ENST00000582365:exon9:c.1180+2T>G)	.	.	0.999938221968836	0.894
18	72247510	G	A	18	74580274	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.71252776776333E-5	0.12
18	72247510	G	C	18	74580274	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00290155286452071	0.354
18	72247510	G	T	18	74580274	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00219645875673125	0.344
18	72247511	G	A	18	74580275	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.49804724633215E-4	0.218
18	72247511	G	C	18	74580275	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.31272203412844E-5	0.04
18	72247511	G	T	18	74580275	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.17183631393575E-4	0.028
18	72247512	G	A	18	74580276	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999540925361685	0.856
18	72247512	G	C	18	74580276	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999916006836381	0.936
18	72247512	G	T	18	74580276	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.99994575143734	0.91
18	72247513	A	C	18	74580277	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.37180671357845E-5	0.012
18	72247513	A	G	18	74580277	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.22415409534569E-4	0.008
18	72247513	A	T	18	74580277	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.18321695057002E-4	0.01
18	72247514	C	A	18	74580278	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.85029306216292E-5	0.026
18	72247514	C	G	18	74580278	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.03013503075072E-5	0.026
18	72247514	C	T	18	74580278	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.0288991037256E-4	0.026
18	72247515	C	A	18	74580279	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.06492065691335E-5	0.028
18	72247515	C	G	18	74580279	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.76516704256555E-6	0.002
18	72247515	C	T	18	74580279	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.85628940072504E-5	0.026
18	72250785	T	A	18	74583549	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.23514825330529E-4	0.05
18	72250785	T	C	18	74583549	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.19498041965296E-4	0.012
18	72250785	T	G	18	74583549	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.02262807082706E-4	0.056
18	72250786	T	A	18	74583550	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.43784110307064E-4	0.116
18	72250786	T	C	18	74583550	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.09973832968449E-4	0.01
18	72250786	T	G	18	74583550	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.1932483325972E-4	0.056
18	72250787	C	A	18	74583551	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.7932034773063E-4	0.032
18	72250787	C	G	18	74583551	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.32182887345129E-4	0.036
18	72250787	C	T	18	74583551	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.30992517823425E-5	0.002
18	72250788	C	A	18	74583552	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00115450150889035	0.048
18	72250788	C	G	18	74583552	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.8055221823781E-4	0.032
18	72250788	C	T	18	74583552	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.18682569994364E-4	0.058
18	72250789	T	A	18	74583553	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999401688181143	0.958
18	72250789	T	C	18	74583553	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.19795742446707E-4	0.028
18	72250789	T	G	18	74583553	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.14609726489709E-4	0.048
18	72250790	G	A	18	74583554	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.2539542725169E-4	0.006
18	72250790	G	C	18	74583554	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.15929911108294E-4	0.002
18	72250790	G	T	18	74583554	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.04025597227352E-4	0.008
18	72250791	T	A	18	74583555	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00396432090238805	0.112
18	72250791	T	C	18	74583555	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.53760942695455E-4	0.018
18	72250791	T	G	18	74583555	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00470823271581023	0.126
18	72250792	C	A	18	74583556	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.36477092935556E-4	0.03
18	72250792	C	G	18	74583556	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.74810058353464E-4	0.022
18	72250792	C	T	18	74583556	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.90479179026868E-5	0.0
18	72250793	T	A	18	74583557	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.90986050116002E-4	0.008
18	72250793	T	C	18	74583557	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.06153794947523E-5	0.0
18	72250793	T	G	18	74583557	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.56158328585338E-4	0.002
18	72250794	C	A	18	74583558	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.663125029459149	0.546
18	72250794	C	G	18	74583558	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999949272175073	0.916
18	72250794	C	T	18	74583558	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00400691453695979	0.048
18	72250795	A	C	18	74583559	y	y	splicing	CNDP1(NM_032649:exon11:c.1310-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1310-2A>C;ENST00000582365:exon10:c.1181-2A>C)	.	.	0.999988247793601	0.928
18	72250795	A	G	18	74583559	y	y	splicing	CNDP1(NM_032649:exon11:c.1310-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1310-2A>G;ENST00000582365:exon10:c.1181-2A>G)	.	.	0.999988247793601	0.928
18	72250795	A	T	18	74583559	y	y	splicing	CNDP1(NM_032649:exon11:c.1310-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1310-2A>T;ENST00000582365:exon10:c.1181-2A>T)	.	.	0.999988247793601	0.928
18	72250796	G	A	18	74583560	y	y	splicing	CNDP1(NM_032649:exon11:c.1310-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1310-1G>A;ENST00000582365:exon10:c.1181-1G>A)	.	.	0.999985532734767	0.936
18	72250796	G	C	18	74583560	y	y	splicing	CNDP1(NM_032649:exon11:c.1310-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1310-1G>C;ENST00000582365:exon10:c.1181-1G>C)	.	.	0.999985532734767	0.936
18	72250796	G	T	18	74583560	y	y	splicing	CNDP1(NM_032649:exon11:c.1310-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1310-1G>T;ENST00000582365:exon10:c.1181-1G>T)	.	.	0.999985532734767	0.936
18	72250797	T	A	18	74583561	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.T1310A:p.V437E;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.T1181A:p.V394E;ENSG00000150656:ENST00000358821:exon11:c.T1310A:p.V437E;	0.597445031102668	0.754
18	72250797	T	C	18	74583561	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.T1310C:p.V437A;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.T1181C:p.V394A;ENSG00000150656:ENST00000358821:exon11:c.T1310C:p.V437A;	0.798975235499066	0.84
18	72250797	T	G	18	74583561	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.T1310G:p.V437G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.T1181G:p.V394G;ENSG00000150656:ENST00000358821:exon11:c.T1310G:p.V437G;	0.65042255337121	0.688
18	72250798	G	A	18	74583562	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon11:c.G1311A:p.V437V;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.G1182A:p.V394V;ENSG00000150656:ENST00000358821:exon11:c.G1311A:p.V437V;	0.00307015820350621	0.048
18	72250798	G	C	18	74583562	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon11:c.G1311C:p.V437V;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.G1182C:p.V394V;ENSG00000150656:ENST00000358821:exon11:c.G1311C:p.V437V;	0.00101229782050995	0.02
18	72250798	G	T	18	74583562	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon11:c.G1311T:p.V437V;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.G1182T:p.V394V;ENSG00000150656:ENST00000358821:exon11:c.G1311T:p.V437V;	4.40957557654541E-4	0.022
18	72250942	C	A	18	74583706	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.C1455A:p.N485K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.C1326A:p.N442K;ENSG00000150656:ENST00000358821:exon11:c.C1455A:p.N485K;	0.013923417310229	0.176
18	72250942	C	G	18	74583706	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.C1455G:p.N485K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.C1326G:p.N442K;ENSG00000150656:ENST00000358821:exon11:c.C1455G:p.N485K;	0.0354247187146146	0.258
18	72250942	C	T	18	74583706	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon11:c.C1455T:p.N485N;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.C1326T:p.N442N;ENSG00000150656:ENST00000358821:exon11:c.C1455T:p.N485N;	0.488467430306735	0.578
18	72250943	A	C	18	74583707	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon11:c.A1456C:p.R486R;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.A1327C:p.R443R;ENSG00000150656:ENST00000358821:exon11:c.A1456C:p.R486R;	0.999117719266166	0.958
18	72250943	A	G	18	74583707	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.A1456G:p.R486G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.A1327G:p.R443G;ENSG00000150656:ENST00000358821:exon11:c.A1456G:p.R486G;	0.99984366633733	0.998
18	72250943	A	T	18	74583707	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.A1456T:p.R486W;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.A1327T:p.R443W;ENSG00000150656:ENST00000358821:exon11:c.A1456T:p.R486W;	0.99995243503548	0.992
18	72250944	G	A	18	74583708	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.G1457A:p.R486K;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.G1328A:p.R443K;ENSG00000150656:ENST00000358821:exon11:c.G1457A:p.R486K;	0.999965559944639	0.998
18	72250944	G	C	18	74583708	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.G1457C:p.R486T;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.G1328C:p.R443T;ENSG00000150656:ENST00000358821:exon11:c.G1457C:p.R486T;	0.999997700871535	1.0
18	72250944	G	T	18	74583708	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon11:c.G1457T:p.R486M;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon10:c.G1328T:p.R443M;ENSG00000150656:ENST00000358821:exon11:c.G1457T:p.R486M;	0.99999011594992	1.0
18	72250945	G	A	18	74583709	y	y	splicing	CNDP1(NM_032649:exon11:c.1457+1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1457+1G>A;ENST00000582365:exon10:c.1328+1G>A)	.	.	0.999985532734767	0.914
18	72250945	G	C	18	74583709	y	y	splicing	CNDP1(NM_032649:exon11:c.1457+1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1457+1G>C;ENST00000582365:exon10:c.1328+1G>C)	.	.	0.999985532734767	0.926
18	72250945	G	T	18	74583709	y	y	splicing	CNDP1(NM_032649:exon11:c.1457+1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1457+1G>T;ENST00000582365:exon10:c.1328+1G>T)	.	.	0.999985532734767	0.926
18	72250946	T	A	18	74583710	y	y	splicing	CNDP1(NM_032649:exon11:c.1457+2T>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1457+2T>A;ENST00000582365:exon10:c.1328+2T>A)	.	.	0.999983636037506	0.914
18	72250946	T	C	18	74583710	y	y	splicing	CNDP1(NM_032649:exon11:c.1457+2T>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1457+2T>C;ENST00000582365:exon10:c.1328+2T>C)	.	.	0.999848173959947	0.898
18	72250946	T	G	18	74583710	y	y	splicing	CNDP1(NM_032649:exon11:c.1457+2T>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon11:c.1457+2T>G;ENST00000582365:exon10:c.1328+2T>G)	.	.	0.999978952611685	0.914
18	72250947	C	A	18	74583711	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.44568076846107E-5	0.036
18	72250947	C	G	18	74583711	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.80662520931226E-5	0.052
18	72250947	C	T	18	74583711	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.60155519374404E-5	0.096
18	72250948	A	C	18	74583712	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.719026059428041	0.55
18	72250948	A	G	18	74583712	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.133719643878391	0.356
18	72250948	A	T	18	74583712	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.257047785234679	0.44
18	72250949	G	A	18	74583713	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.998583515926806	0.912
18	72250949	G	C	18	74583713	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.997546019811527	0.852
18	72250949	G	T	18	74583713	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.999261390963623	0.908
18	72250950	C	A	18	74583714	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.89512940833353E-4	0.006
18	72250950	C	G	18	74583714	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.03614552618369E-5	0.026
18	72250950	C	T	18	74583714	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.74905218600112E-5	0.01
18	72250951	T	A	18	74583715	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.08882707724309E-5	0.0
18	72250951	T	C	18	74583715	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.04900693216345E-6	0.0
18	72250951	T	G	18	74583715	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	7.06341561599038E-6	0.0
18	72250952	G	A	18	74583716	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.9987801423134E-5	0.002
18	72250952	G	C	18	74583716	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.9987801423134E-5	0.0
18	72250952	G	T	18	74583716	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.45667536247747E-5	0.0
18	72251720	T	A	18	74584484	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.05674378261408E-4	0.238
18	72251720	T	C	18	74584484	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.42766284051539E-4	0.04
18	72251720	T	G	18	74584484	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.13896536238794E-4	0.25
18	72251721	C	A	18	74584485	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95678670424769E-4	0.026
18	72251721	C	G	18	74584485	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.58731234202957E-5	0.006
18	72251721	C	T	18	74584485	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.21946853154343E-5	0.002
18	72251722	C	A	18	74584486	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.44880681821232E-4	0.104
18	72251722	C	G	18	74584486	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	8.21234078054284E-4	0.078
18	72251722	C	T	18	74584486	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.44276994427501E-4	0.004
18	72251723	T	A	18	74584487	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.95255772071966E-4	0.042
18	72251723	T	C	18	74584487	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.63997214801863E-5	0.0
18	72251723	T	G	18	74584487	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.75503483620932E-5	0.05
18	72251724	C	A	18	74584488	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.67537447107347E-5	0.004
18	72251724	C	G	18	74584488	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.22675235156089E-5	0.02
18	72251724	C	T	18	74584488	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.5705941591264E-5	0.0
18	72251725	T	A	18	74584489	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	2.88351950022035E-4	0.034
18	72251725	T	C	18	74584489	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	4.13436787211908E-5	0.014
18	72251725	T	G	18	74584489	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.00279072599793E-4	0.036
18	72251726	T	A	18	74584490	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.37743949730141E-5	0.034
18	72251726	T	C	18	74584490	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.04265126375585E-5	0.0
18	72251726	T	G	18	74584490	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.66736585848297E-5	0.052
18	72251727	C	A	18	74584491	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.35470224834279E-5	0.018
18	72251727	C	G	18	74584491	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	9.84973808906793E-5	0.048
18	72251727	C	T	18	74584491	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	1.57507665795428E-5	0.006
18	72251728	T	A	18	74584492	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.50312366030491E-5	0.0
18	72251728	T	C	18	74584492	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	6.53293140391E-5	0.0
18	72251728	T	G	18	74584492	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	5.32231126852053E-5	0.0
18	72251729	T	A	18	74584493	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.00105934056785758	0.048
18	72251729	T	C	18	74584493	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	3.37281434040947E-4	0.006
18	72251729	T	G	18	74584493	y	y	intronic	CNDP1	.	.	intronic	ENSG00000150656	.	.	0.894559927410531	0.502
18	72251730	A	C	18	74584494	y	y	splicing	CNDP1(NM_032649:exon12:c.1458-2A>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon12:c.1458-2A>C;ENST00000582365:exon11:c.1329-2A>C)	.	.	0.999990155693597	0.924
18	72251730	A	G	18	74584494	y	y	splicing	CNDP1(NM_032649:exon12:c.1458-2A>G)	.	.	splicing	ENSG00000150656(ENST00000358821:exon12:c.1458-2A>G;ENST00000582365:exon11:c.1329-2A>G)	.	.	0.999990155693597	0.924
18	72251730	A	T	18	74584494	y	y	splicing	CNDP1(NM_032649:exon12:c.1458-2A>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon12:c.1458-2A>T;ENST00000582365:exon11:c.1329-2A>T)	.	.	0.999990155693597	0.924
18	72251731	G	A	18	74584495	y	y	splicing	CNDP1(NM_032649:exon12:c.1458-1G>A)	.	.	splicing	ENSG00000150656(ENST00000358821:exon12:c.1458-1G>A;ENST00000582365:exon11:c.1329-1G>A)	.	.	0.999986675681007	0.926
18	72251731	G	C	18	74584495	y	y	splicing	CNDP1(NM_032649:exon12:c.1458-1G>C)	.	.	splicing	ENSG00000150656(ENST00000358821:exon12:c.1458-1G>C;ENST00000582365:exon11:c.1329-1G>C)	.	.	0.999986675681007	0.926
18	72251731	G	T	18	74584495	y	y	splicing	CNDP1(NM_032649:exon12:c.1458-1G>T)	.	.	splicing	ENSG00000150656(ENST00000358821:exon12:c.1458-1G>T;ENST00000582365:exon11:c.1329-1G>T)	.	.	0.999986675681007	0.926
18	72251732	G	A	18	74584496	y	y	exonic	CNDP1	synonymous SNV	CNDP1:NM_032649:exon12:c.G1458A:p.R486R;	exonic	ENSG00000150656	synonymous SNV	ENSG00000150656:ENST00000582365:exon11:c.G1329A:p.R443R;ENSG00000150656:ENST00000358821:exon12:c.G1458A:p.R486R;	0.28191281049014	0.432
18	72251732	G	C	18	74584496	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon12:c.G1458C:p.R486S;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon11:c.G1329C:p.R443S;ENSG00000150656:ENST00000358821:exon12:c.G1458C:p.R486S;	0.993295211361098	0.718
18	72251732	G	T	18	74584496	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon12:c.G1458T:p.R486S;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon11:c.G1329T:p.R443S;ENSG00000150656:ENST00000358821:exon12:c.G1458T:p.R486S;	0.993587098420591	0.758
18	72251733	T	A	18	74584497	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon12:c.T1459A:p.W487R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon11:c.T1330A:p.W444R;ENSG00000150656:ENST00000358821:exon12:c.T1459A:p.W487R;	0.00163341416470458	0.084
18	72251733	T	C	18	74584497	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon12:c.T1459C:p.W487R;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon11:c.T1330C:p.W444R;ENSG00000150656:ENST00000358821:exon12:c.T1459C:p.W487R;	0.00121445926032342	0.08
18	72251733	T	G	18	74584497	y	y	exonic	CNDP1	nonsynonymous SNV	CNDP1:NM_032649:exon12:c.T1459G:p.W487G;	exonic	ENSG00000150656	nonsynonymous SNV	ENSG00000150656:ENST00000582365:exon11:c.T1330G:p.W444G;ENSG00000150656:ENST00000358821:exon12:c.T1459G:p.W487G;	0.00130184287883319	0.044
18	72342911	T	A	18	74630955	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.67206724315587E-4	0.006
18	72342911	T	C	18	74630955	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.09410722883356E-4	0.006
18	72342911	T	G	18	74630955	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.09410722883356E-4	0.004
18	72342912	T	A	18	74630956	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00689508868792027	0.024
18	72342912	T	C	18	74630956	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00464429886053217	0.042
18	72342912	T	G	18	74630956	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00464429886053217	0.044
18	72342913	T	A	18	74630957	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.64857229448119E-4	0.002
18	72342913	T	C	18	74630957	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.82254846753964E-4	0.002
18	72342913	T	G	18	74630957	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.82254846753964E-4	0.002
18	72342914	A	C	18	74630958	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.80151784508298E-4	0.014
18	72342914	A	G	18	74630958	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.80151784508298E-4	0.014
18	72342914	A	T	18	74630958	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.05923468377003E-4	0.014
18	72342915	C	A	18	74630959	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	7.55427294637899E-5	0.018
18	72342915	C	G	18	74630959	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.15631710620113E-5	0.022
18	72342915	C	T	18	74630959	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	7.55427294637899E-5	0.016
18	72342916	T	A	18	74630960	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.51591174045998E-4	0.006
18	72342916	T	C	18	74630960	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.00961143325455E-4	0.006
18	72342916	T	G	18	74630960	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.00961143325455E-4	0.006
18	72342917	T	A	18	74630961	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.32738884006124E-5	0.0
18	72342917	T	C	18	74630961	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.40189184171185E-5	0.0
18	72342917	T	G	18	74630961	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.40189184171185E-5	0.0
18	72342918	C	A	18	74630962	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.47413882681639E-5	0.0
18	72342918	C	G	18	74630962	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.47413882681639E-5	0.0
18	72342918	C	T	18	74630962	n	y	upstream	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.47413882681639E-5	0.0
18	72342919	A	C	18	74630963	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	4.39331619859259E-4	0.0
18	72342919	A	G	18	74630963	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	4.39331619859259E-4	0.0
18	72342919	A	T	18	74630963	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	7.91836965572762E-4	0.008
18	72342920	C	A	18	74630964	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	0.00455550459124179	0.02
18	72342920	C	G	18	74630964	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	0.00455550459124179	0.012
18	72342920	C	T	18	74630964	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	0.00455550459124179	0.016
18	72342921	A	C	18	74630965	n	y	UTR5	ZNF407	.	.	splicing	ENSG00000215421	.	.	0.93173526686674	0.776
18	72342921	A	G	18	74630965	n	y	UTR5	ZNF407	.	.	splicing	ENSG00000215421	.	.	0.93173526686674	0.774
18	72342921	A	T	18	74630965	n	y	UTR5	ZNF407	.	.	splicing	ENSG00000215421	.	.	0.96462550940396	0.822
18	72342922	G	A	18	74630966	n	y	UTR5	ZNF407	.	.	splicing	ENSG00000215421	.	.	0.00200550157527051	0.042
18	72342922	G	C	18	74630966	n	y	UTR5	ZNF407	.	.	splicing	ENSG00000215421	.	.	0.00117359198492298	0.088
18	72342922	G	T	18	74630966	n	y	UTR5	ZNF407	.	.	splicing	ENSG00000215421	.	.	0.00200550157527051	0.042
18	72342923	G	A	18	74630967	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	2.44958268314859E-4	0.008
18	72342923	G	C	18	74630967	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	2.44958268314859E-4	0.008
18	72342923	G	T	18	74630967	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	2.44958268314859E-4	0.008
18	72342924	T	A	18	74630968	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	3.95882241832219E-4	0.004
18	72342924	T	C	18	74630968	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	1.77945247904412E-4	0.002
18	72342924	T	G	18	74630968	n	y	UTR5	ZNF407	.	.	UTR5	ENSG00000215421	.	.	1.77945247904412E-4	0.002
18	72347660	C	A	18	74635704	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon1:c.C4685A:p.T1562K;ZNF407:NM_017757:exon1:c.C4685A:p.T1562K;ZNF407:NM_001146189:exon1:c.C4685A:p.T1562K;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon1:c.C4685A:p.T1562K;ENSG00000215421:ENST00000299687:exon1:c.C4685A:p.T1562K;ENSG00000215421:ENST00000309902:exon1:c.C4685A:p.T1562K;ENSG00000215421:ENST00000582337:exon2:c.C4685A:p.T1562K;	0.351468468549104	0.666
18	72347660	C	G	18	74635704	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon1:c.C4685G:p.T1562R;ZNF407:NM_017757:exon1:c.C4685G:p.T1562R;ZNF407:NM_001146189:exon1:c.C4685G:p.T1562R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon1:c.C4685G:p.T1562R;ENSG00000215421:ENST00000299687:exon1:c.C4685G:p.T1562R;ENSG00000215421:ENST00000309902:exon1:c.C4685G:p.T1562R;ENSG00000215421:ENST00000582337:exon2:c.C4685G:p.T1562R;	0.292323025171291	0.484
18	72347660	C	T	18	74635704	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon1:c.C4685T:p.T1562I;ZNF407:NM_017757:exon1:c.C4685T:p.T1562I;ZNF407:NM_001146189:exon1:c.C4685T:p.T1562I;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon1:c.C4685T:p.T1562I;ENSG00000215421:ENST00000299687:exon1:c.C4685T:p.T1562I;ENSG00000215421:ENST00000309902:exon1:c.C4685T:p.T1562I;ENSG00000215421:ENST00000582337:exon2:c.C4685T:p.T1562I;	0.974238464528668	0.594
18	72347661	A	C	18	74635705	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon1:c.A4686C:p.T1562T;ZNF407:NM_017757:exon1:c.A4686C:p.T1562T;ZNF407:NM_001146189:exon1:c.A4686C:p.T1562T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon1:c.A4686C:p.T1562T;ENSG00000215421:ENST00000299687:exon1:c.A4686C:p.T1562T;ENSG00000215421:ENST00000309902:exon1:c.A4686C:p.T1562T;ENSG00000215421:ENST00000582337:exon2:c.A4686C:p.T1562T;	0.230691690483023	0.464
18	72347661	A	G	18	74635705	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon1:c.A4686G:p.T1562T;ZNF407:NM_017757:exon1:c.A4686G:p.T1562T;ZNF407:NM_001146189:exon1:c.A4686G:p.T1562T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon1:c.A4686G:p.T1562T;ENSG00000215421:ENST00000299687:exon1:c.A4686G:p.T1562T;ENSG00000215421:ENST00000309902:exon1:c.A4686G:p.T1562T;ENSG00000215421:ENST00000582337:exon2:c.A4686G:p.T1562T;	0.367086564405851	0.366
18	72347661	A	T	18	74635705	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon1:c.A4686T:p.T1562T;ZNF407:NM_017757:exon1:c.A4686T:p.T1562T;ZNF407:NM_001146189:exon1:c.A4686T:p.T1562T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon1:c.A4686T:p.T1562T;ENSG00000215421:ENST00000299687:exon1:c.A4686T:p.T1562T;ENSG00000215421:ENST00000309902:exon1:c.A4686T:p.T1562T;ENSG00000215421:ENST00000582337:exon2:c.A4686T:p.T1562T;	0.850865897712581	0.514
18	72347662	G	A	18	74635706	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon1:c.G4687A:p.G1563R;ZNF407:NM_017757:exon1:c.G4687A:p.G1563R;ZNF407:NM_001146189:exon1:c.G4687A:p.G1563R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon1:c.G4687A:p.G1563R;ENSG00000215421:ENST00000299687:exon1:c.G4687A:p.G1563R;ENSG00000215421:ENST00000309902:exon1:c.G4687A:p.G1563R;ENSG00000215421:ENST00000582337:exon2:c.G4687A:p.G1563R;	0.999940825651264	0.998
18	72347662	G	C	18	74635706	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon1:c.G4687C:p.G1563R;ZNF407:NM_017757:exon1:c.G4687C:p.G1563R;ZNF407:NM_001146189:exon1:c.G4687C:p.G1563R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon1:c.G4687C:p.G1563R;ENSG00000215421:ENST00000299687:exon1:c.G4687C:p.G1563R;ENSG00000215421:ENST00000309902:exon1:c.G4687C:p.G1563R;ENSG00000215421:ENST00000582337:exon2:c.G4687C:p.G1563R;	0.99998871860032	0.996
18	72347662	G	T	18	74635706	y	y	exonic	ZNF407	stopgain SNV	ZNF407:NM_001146190:exon1:c.G4687T:p.G1563X;ZNF407:NM_017757:exon1:c.G4687T:p.G1563X;ZNF407:NM_001146189:exon1:c.G4687T:p.G1563X;	exonic	ENSG00000215421	stopgain SNV	ENSG00000215421:ENST00000577538:exon1:c.G4687T:p.G1563X;ENSG00000215421:ENST00000299687:exon1:c.G4687T:p.G1563X;ENSG00000215421:ENST00000309902:exon1:c.G4687T:p.G1563X;ENSG00000215421:ENST00000582337:exon2:c.G4687T:p.G1563X;	0.999975268858396	0.996
18	72347663	G	A	18	74635707	y	y	splicing	ZNF407(NM_017757:exon1:c.4687+1G>A;NM_001146189:exon1:c.4687+1G>A;NM_001146190:exon1:c.4687+1G>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon2:c.4687+1G>A;ENST00000309902:exon1:c.4687+1G>A;ENST00000299687:exon1:c.4687+1G>A;ENST00000577538:exon1:c.4687+1G>A)	.	.	0.999966514958823	0.944
18	72347663	G	C	18	74635707	y	y	splicing	ZNF407(NM_017757:exon1:c.4687+1G>C;NM_001146189:exon1:c.4687+1G>C;NM_001146190:exon1:c.4687+1G>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon2:c.4687+1G>C;ENST00000309902:exon1:c.4687+1G>C;ENST00000299687:exon1:c.4687+1G>C;ENST00000577538:exon1:c.4687+1G>C)	.	.	0.999966514958823	0.942
18	72347663	G	T	18	74635707	y	y	splicing	ZNF407(NM_017757:exon1:c.4687+1G>T;NM_001146189:exon1:c.4687+1G>T;NM_001146190:exon1:c.4687+1G>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon2:c.4687+1G>T;ENST00000309902:exon1:c.4687+1G>T;ENST00000299687:exon1:c.4687+1G>T;ENST00000577538:exon1:c.4687+1G>T)	.	.	0.999966514958823	0.944
18	72347664	T	A	18	74635708	y	y	splicing	ZNF407(NM_017757:exon1:c.4687+2T>A;NM_001146189:exon1:c.4687+2T>A;NM_001146190:exon1:c.4687+2T>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon2:c.4687+2T>A;ENST00000309902:exon1:c.4687+2T>A;ENST00000299687:exon1:c.4687+2T>A;ENST00000577538:exon1:c.4687+2T>A)	.	.	0.999982151912279	0.89
18	72347664	T	C	18	74635708	y	y	splicing	ZNF407(NM_017757:exon1:c.4687+2T>C;NM_001146189:exon1:c.4687+2T>C;NM_001146190:exon1:c.4687+2T>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon2:c.4687+2T>C;ENST00000309902:exon1:c.4687+2T>C;ENST00000299687:exon1:c.4687+2T>C;ENST00000577538:exon1:c.4687+2T>C)	.	.	0.966695040432933	0.576
18	72347664	T	G	18	74635708	y	y	splicing	ZNF407(NM_017757:exon1:c.4687+2T>G;NM_001146189:exon1:c.4687+2T>G;NM_001146190:exon1:c.4687+2T>G)	.	.	splicing	ENSG00000215421(ENST00000582337:exon2:c.4687+2T>G;ENST00000309902:exon1:c.4687+2T>G;ENST00000299687:exon1:c.4687+2T>G;ENST00000577538:exon1:c.4687+2T>G)	.	.	0.999972155025474	0.852
18	72347665	A	C	18	74635709	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.165387468884863	0.328
18	72347665	A	G	18	74635709	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00580279628200603	0.292
18	72347665	A	T	18	74635709	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0840966123146904	0.358
18	72347666	T	A	18	74635710	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.22090118034368E-5	0.082
18	72347666	T	C	18	74635710	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00143372049032223	0.1
18	72347666	T	G	18	74635710	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.77725245523247E-4	0.042
18	72347667	G	A	18	74635711	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.99390331422441	0.61
18	72347667	G	C	18	74635711	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.924739806110569	0.704
18	72347667	G	T	18	74635711	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.984485540575943	0.774
18	72347668	T	A	18	74635712	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00184228637622999	0.142
18	72347668	T	C	18	74635712	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00227262551102061	0.108
18	72347668	T	G	18	74635712	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00166341862011874	0.078
18	72347669	A	C	18	74635713	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.14720235371151E-5	0.002
18	72347669	A	G	18	74635713	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.26549688790914E-5	0.002
18	72347669	A	T	18	74635713	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.210499652053E-5	0.002
18	72347670	G	A	18	74635714	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.75538498902536E-5	0.0
18	72347670	G	C	18	74635714	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.02203293062935E-5	0.0
18	72347670	G	T	18	74635714	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.75538498902536E-5	0.002
18	72352952	A	C	18	74640996	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00416639104067553	0.19
18	72352952	A	G	18	74640996	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0246727768270547	0.13
18	72352952	A	T	18	74640996	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0221881677230548	0.198
18	72352953	A	C	18	74640997	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.55561921073449E-4	0.152
18	72352953	A	G	18	74640997	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998108706928337	0.96
18	72352953	A	T	18	74640997	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00189548777185142	0.3
18	72352954	A	C	18	74640998	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00203680805221353	0.16
18	72352954	A	G	18	74640998	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999630034282906	0.93
18	72352954	A	T	18	74640998	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00593418989328249	0.198
18	72352955	T	A	18	74640999	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.786125317133521	0.772
18	72352955	T	C	18	74640999	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0162934464936259	0.082
18	72352955	T	G	18	74640999	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999950227007976	0.972
18	72352956	T	A	18	74641000	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.810364239812585	0.586
18	72352956	T	C	18	74641000	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00169356928372027	0.048
18	72352956	T	G	18	74641000	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0607938087083132	0.372
18	72352957	T	A	18	74641001	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.21381020221158	0.454
18	72352957	T	C	18	74641001	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.43259951120587E-4	0.05
18	72352957	T	G	18	74641001	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.130381718581313	0.388
18	72352958	A	C	18	74641002	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.52339344933898E-4	0.05
18	72352958	A	G	18	74641002	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00105806754451391	0.056
18	72352958	A	T	18	74641002	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.72217873061987E-4	0.058
18	72352959	C	A	18	74641003	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.57133729382586E-4	0.12
18	72352959	C	G	18	74641003	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999889882598168	0.968
18	72352959	C	T	18	74641003	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.56711122725035E-4	0.038
18	72352960	T	A	18	74641004	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.41808412336245E-5	0.0
18	72352960	T	C	18	74641004	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.06772309871455E-4	0.022
18	72352960	T	G	18	74641004	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.39104552992266E-4	0.09
18	72352961	C	A	18	74641005	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.969697997399632	0.802
18	72352961	C	G	18	74641005	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998294047542047	0.658
18	72352961	C	T	18	74641005	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00387495285345734	0.256
18	72352962	A	C	18	74641006	y	y	splicing	ZNF407(NM_017757:exon2:c.4688-2A>C;NM_001146189:exon2:c.4688-2A>C;NM_001146190:exon2:c.4688-2A>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4688-2A>C;ENST00000309902:exon2:c.4688-2A>C;ENST00000299687:exon2:c.4688-2A>C;ENST00000577538:exon2:c.4688-2A>C)	.	.	0.999988991791854	0.916
18	72352962	A	G	18	74641006	y	y	splicing	ZNF407(NM_017757:exon2:c.4688-2A>G;NM_001146189:exon2:c.4688-2A>G;NM_001146190:exon2:c.4688-2A>G)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4688-2A>G;ENST00000309902:exon2:c.4688-2A>G;ENST00000299687:exon2:c.4688-2A>G;ENST00000577538:exon2:c.4688-2A>G)	.	.	0.999988991791854	0.916
18	72352962	A	T	18	74641006	y	y	splicing	ZNF407(NM_017757:exon2:c.4688-2A>T;NM_001146189:exon2:c.4688-2A>T;NM_001146190:exon2:c.4688-2A>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4688-2A>T;ENST00000309902:exon2:c.4688-2A>T;ENST00000299687:exon2:c.4688-2A>T;ENST00000577538:exon2:c.4688-2A>T)	.	.	0.999988991791854	0.916
18	72352963	G	A	18	74641007	y	y	splicing	ZNF407(NM_017757:exon2:c.4688-1G>A;NM_001146189:exon2:c.4688-1G>A;NM_001146190:exon2:c.4688-1G>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4688-1G>A;ENST00000309902:exon2:c.4688-1G>A;ENST00000299687:exon2:c.4688-1G>A;ENST00000577538:exon2:c.4688-1G>A)	.	.	0.999988991791854	0.916
18	72352963	G	C	18	74641007	y	y	splicing	ZNF407(NM_017757:exon2:c.4688-1G>C;NM_001146189:exon2:c.4688-1G>C;NM_001146190:exon2:c.4688-1G>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4688-1G>C;ENST00000309902:exon2:c.4688-1G>C;ENST00000299687:exon2:c.4688-1G>C;ENST00000577538:exon2:c.4688-1G>C)	.	.	0.999988991791854	0.916
18	72352963	G	T	18	74641007	y	y	splicing	ZNF407(NM_017757:exon2:c.4688-1G>T;NM_001146189:exon2:c.4688-1G>T;NM_001146190:exon2:c.4688-1G>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4688-1G>T;ENST00000309902:exon2:c.4688-1G>T;ENST00000299687:exon2:c.4688-1G>T;ENST00000577538:exon2:c.4688-1G>T)	.	.	0.999988991791854	0.916
18	72352964	G	A	18	74641008	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4688A:p.G1563E;ZNF407:NM_017757:exon2:c.G4688A:p.G1563E;ZNF407:NM_001146189:exon2:c.G4688A:p.G1563E;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4688A:p.G1563E;ENSG00000215421:ENST00000299687:exon2:c.G4688A:p.G1563E;ENSG00000215421:ENST00000309902:exon2:c.G4688A:p.G1563E;ENSG00000215421:ENST00000582337:exon3:c.G4688A:p.G1563E;	0.193502685851564	0.54
18	72352964	G	C	18	74641008	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4688C:p.G1563A;ZNF407:NM_017757:exon2:c.G4688C:p.G1563A;ZNF407:NM_001146189:exon2:c.G4688C:p.G1563A;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4688C:p.G1563A;ENSG00000215421:ENST00000299687:exon2:c.G4688C:p.G1563A;ENSG00000215421:ENST00000309902:exon2:c.G4688C:p.G1563A;ENSG00000215421:ENST00000582337:exon3:c.G4688C:p.G1563A;	0.959689113050407	0.772
18	72352964	G	T	18	74641008	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4688T:p.G1563V;ZNF407:NM_017757:exon2:c.G4688T:p.G1563V;ZNF407:NM_001146189:exon2:c.G4688T:p.G1563V;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4688T:p.G1563V;ENSG00000215421:ENST00000299687:exon2:c.G4688T:p.G1563V;ENSG00000215421:ENST00000309902:exon2:c.G4688T:p.G1563V;ENSG00000215421:ENST00000582337:exon3:c.G4688T:p.G1563V;	0.995531556937547	0.89
18	72352965	A	C	18	74641009	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon2:c.A4689C:p.G1563G;ZNF407:NM_017757:exon2:c.A4689C:p.G1563G;ZNF407:NM_001146189:exon2:c.A4689C:p.G1563G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.A4689C:p.G1563G;ENSG00000215421:ENST00000299687:exon2:c.A4689C:p.G1563G;ENSG00000215421:ENST00000309902:exon2:c.A4689C:p.G1563G;ENSG00000215421:ENST00000582337:exon3:c.A4689C:p.G1563G;	0.00105982664896825	0.156
18	72352965	A	G	18	74641009	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon2:c.A4689G:p.G1563G;ZNF407:NM_017757:exon2:c.A4689G:p.G1563G;ZNF407:NM_001146189:exon2:c.A4689G:p.G1563G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.A4689G:p.G1563G;ENSG00000215421:ENST00000299687:exon2:c.A4689G:p.G1563G;ENSG00000215421:ENST00000309902:exon2:c.A4689G:p.G1563G;ENSG00000215421:ENST00000582337:exon3:c.A4689G:p.G1563G;	0.00138309603068737	0.024
18	72352965	A	T	18	74641009	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon2:c.A4689T:p.G1563G;ZNF407:NM_017757:exon2:c.A4689T:p.G1563G;ZNF407:NM_001146189:exon2:c.A4689T:p.G1563G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.A4689T:p.G1563G;ENSG00000215421:ENST00000299687:exon2:c.A4689T:p.G1563G;ENSG00000215421:ENST00000309902:exon2:c.A4689T:p.G1563G;ENSG00000215421:ENST00000582337:exon3:c.A4689T:p.G1563G;	0.00118419921973672	0.046
18	72353076	T	A	18	74641120	y	y	exonic	ZNF407	stopgain SNV	ZNF407:NM_001146190:exon2:c.T4800A:p.C1600X;ZNF407:NM_017757:exon2:c.T4800A:p.C1600X;ZNF407:NM_001146189:exon2:c.T4800A:p.C1600X;	exonic	ENSG00000215421	stopgain SNV	ENSG00000215421:ENST00000577538:exon2:c.T4800A:p.C1600X;ENSG00000215421:ENST00000299687:exon2:c.T4800A:p.C1600X;ENSG00000215421:ENST00000309902:exon2:c.T4800A:p.C1600X;ENSG00000215421:ENST00000582337:exon3:c.T4800A:p.C1600X;	0.939477738037073	0.8
18	72353076	T	C	18	74641120	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon2:c.T4800C:p.C1600C;ZNF407:NM_017757:exon2:c.T4800C:p.C1600C;ZNF407:NM_001146189:exon2:c.T4800C:p.C1600C;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.T4800C:p.C1600C;ENSG00000215421:ENST00000299687:exon2:c.T4800C:p.C1600C;ENSG00000215421:ENST00000309902:exon2:c.T4800C:p.C1600C;ENSG00000215421:ENST00000582337:exon3:c.T4800C:p.C1600C;	0.00111294240833261	0.004
18	72353076	T	G	18	74641120	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.T4800G:p.C1600W;ZNF407:NM_017757:exon2:c.T4800G:p.C1600W;ZNF407:NM_001146189:exon2:c.T4800G:p.C1600W;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.T4800G:p.C1600W;ENSG00000215421:ENST00000299687:exon2:c.T4800G:p.C1600W;ENSG00000215421:ENST00000309902:exon2:c.T4800G:p.C1600W;ENSG00000215421:ENST00000582337:exon3:c.T4800G:p.C1600W;	0.717611726366777	0.436
18	72353077	G	A	18	74641121	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4801A:p.G1601R;ZNF407:NM_017757:exon2:c.G4801A:p.G1601R;ZNF407:NM_001146189:exon2:c.G4801A:p.G1601R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4801A:p.G1601R;ENSG00000215421:ENST00000299687:exon2:c.G4801A:p.G1601R;ENSG00000215421:ENST00000309902:exon2:c.G4801A:p.G1601R;ENSG00000215421:ENST00000582337:exon3:c.G4801A:p.G1601R;	0.945281276917763	0.692
18	72353077	G	C	18	74641121	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4801C:p.G1601R;ZNF407:NM_017757:exon2:c.G4801C:p.G1601R;ZNF407:NM_001146189:exon2:c.G4801C:p.G1601R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4801C:p.G1601R;ENSG00000215421:ENST00000299687:exon2:c.G4801C:p.G1601R;ENSG00000215421:ENST00000309902:exon2:c.G4801C:p.G1601R;ENSG00000215421:ENST00000582337:exon3:c.G4801C:p.G1601R;	0.985756187059733	0.888
18	72353077	G	T	18	74641121	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4801T:p.G1601W;ZNF407:NM_017757:exon2:c.G4801T:p.G1601W;ZNF407:NM_001146189:exon2:c.G4801T:p.G1601W;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4801T:p.G1601W;ENSG00000215421:ENST00000299687:exon2:c.G4801T:p.G1601W;ENSG00000215421:ENST00000309902:exon2:c.G4801T:p.G1601W;ENSG00000215421:ENST00000582337:exon3:c.G4801T:p.G1601W;	0.993155989352997	0.834
18	72353078	G	A	18	74641122	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4802A:p.G1601E;ZNF407:NM_017757:exon2:c.G4802A:p.G1601E;ZNF407:NM_001146189:exon2:c.G4802A:p.G1601E;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4802A:p.G1601E;ENSG00000215421:ENST00000299687:exon2:c.G4802A:p.G1601E;ENSG00000215421:ENST00000309902:exon2:c.G4802A:p.G1601E;ENSG00000215421:ENST00000582337:exon3:c.G4802A:p.G1601E;	0.999965335491305	0.976
18	72353078	G	C	18	74641122	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4802C:p.G1601A;ZNF407:NM_017757:exon2:c.G4802C:p.G1601A;ZNF407:NM_001146189:exon2:c.G4802C:p.G1601A;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4802C:p.G1601A;ENSG00000215421:ENST00000299687:exon2:c.G4802C:p.G1601A;ENSG00000215421:ENST00000309902:exon2:c.G4802C:p.G1601A;ENSG00000215421:ENST00000582337:exon3:c.G4802C:p.G1601A;	0.999985176398765	0.956
18	72353078	G	T	18	74641122	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon2:c.G4802T:p.G1601V;ZNF407:NM_017757:exon2:c.G4802T:p.G1601V;ZNF407:NM_001146189:exon2:c.G4802T:p.G1601V;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon2:c.G4802T:p.G1601V;ENSG00000215421:ENST00000299687:exon2:c.G4802T:p.G1601V;ENSG00000215421:ENST00000309902:exon2:c.G4802T:p.G1601V;ENSG00000215421:ENST00000582337:exon3:c.G4802T:p.G1601V;	0.999977073753059	0.986
18	72353079	G	A	18	74641123	y	y	splicing	ZNF407(NM_017757:exon2:c.4802+1G>A;NM_001146189:exon2:c.4802+1G>A;NM_001146190:exon2:c.4802+1G>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4802+1G>A;ENST00000309902:exon2:c.4802+1G>A;ENST00000299687:exon2:c.4802+1G>A;ENST00000577538:exon2:c.4802+1G>A)	.	.	0.999989917668626	0.928
18	72353079	G	C	18	74641123	y	y	splicing	ZNF407(NM_017757:exon2:c.4802+1G>C;NM_001146189:exon2:c.4802+1G>C;NM_001146190:exon2:c.4802+1G>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4802+1G>C;ENST00000309902:exon2:c.4802+1G>C;ENST00000299687:exon2:c.4802+1G>C;ENST00000577538:exon2:c.4802+1G>C)	.	.	0.999989917668626	0.928
18	72353079	G	T	18	74641123	y	y	splicing	ZNF407(NM_017757:exon2:c.4802+1G>T;NM_001146189:exon2:c.4802+1G>T;NM_001146190:exon2:c.4802+1G>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4802+1G>T;ENST00000309902:exon2:c.4802+1G>T;ENST00000299687:exon2:c.4802+1G>T;ENST00000577538:exon2:c.4802+1G>T)	.	.	0.999989917668626	0.928
18	72353080	T	A	18	74641124	y	y	splicing	ZNF407(NM_017757:exon2:c.4802+2T>A;NM_001146189:exon2:c.4802+2T>A;NM_001146190:exon2:c.4802+2T>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4802+2T>A;ENST00000309902:exon2:c.4802+2T>A;ENST00000299687:exon2:c.4802+2T>A;ENST00000577538:exon2:c.4802+2T>A)	.	.	0.999981760802075	0.938
18	72353080	T	C	18	74641124	y	y	splicing	ZNF407(NM_017757:exon2:c.4802+2T>C;NM_001146189:exon2:c.4802+2T>C;NM_001146190:exon2:c.4802+2T>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4802+2T>C;ENST00000309902:exon2:c.4802+2T>C;ENST00000299687:exon2:c.4802+2T>C;ENST00000577538:exon2:c.4802+2T>C)	.	.	0.999912090682442	0.848
18	72353080	T	G	18	74641124	y	y	splicing	ZNF407(NM_017757:exon2:c.4802+2T>G;NM_001146189:exon2:c.4802+2T>G;NM_001146190:exon2:c.4802+2T>G)	.	.	splicing	ENSG00000215421(ENST00000582337:exon3:c.4802+2T>G;ENST00000309902:exon2:c.4802+2T>G;ENST00000299687:exon2:c.4802+2T>G;ENST00000577538:exon2:c.4802+2T>G)	.	.	0.999981760802075	0.936
18	72353081	G	A	18	74641125	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.7569924220414E-4	0.016
18	72353081	G	C	18	74641125	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.98602223507132	0.726
18	72353081	G	T	18	74641125	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.989693926707485	0.63
18	72353082	A	C	18	74641126	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998605810142046	0.878
18	72353082	A	G	18	74641126	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.995444543330364	0.77
18	72353082	A	T	18	74641126	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998708644099982	0.944
18	72353083	G	A	18	74641127	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999984377283708	0.998
18	72353083	G	C	18	74641127	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999981986397375	0.966
18	72353083	G	T	18	74641127	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999970509114469	0.952
18	72353084	T	A	18	74641128	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.860883044263349	0.708
18	72353084	T	C	18	74641128	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.156675553609826	0.472
18	72353084	T	G	18	74641128	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.11671804045198	0.53
18	72353085	A	C	18	74641129	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.86886502332554E-5	0.022
18	72353085	A	G	18	74641129	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.86886502332554E-5	0.02
18	72353085	A	T	18	74641129	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.05433935629247E-4	0.018
18	72353086	A	C	18	74641130	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.17982546343499E-5	0.0
18	72353086	A	G	18	74641130	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.17982546343499E-5	0.0
18	72353086	A	T	18	74641130	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.51956734742498E-5	0.0
18	72493372	T	A	18	74781416	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00563908986708296	0.41
18	72493372	T	C	18	74781416	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.45475694373072E-5	0.012
18	72493372	T	G	18	74781416	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0043981197215846	0.404
18	72493373	T	A	18	74781417	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0362188059098697	0.416
18	72493373	T	C	18	74781417	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.33941986283204E-4	0.1
18	72493373	T	G	18	74781417	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0554419557660064	0.414
18	72493374	T	A	18	74781418	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.46483578821554E-4	0.07
18	72493374	T	C	18	74781418	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.84530858182888E-5	0.0
18	72493374	T	G	18	74781418	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.86992934554307E-4	0.098
18	72493375	A	C	18	74781419	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.88499599064179E-5	0.144
18	72493375	A	G	18	74781419	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.97645374511987E-5	0.12
18	72493375	A	T	18	74781419	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.27424593850602E-5	0.164
18	72493376	T	A	18	74781420	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0120662070523311	0.208
18	72493376	T	C	18	74781420	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.67437115565435E-5	0.004
18	72493376	T	G	18	74781420	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998070821499789	0.968
18	72493377	T	A	18	74781421	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00380197788165374	0.144
18	72493377	T	C	18	74781421	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.59442334503652E-5	0.0
18	72493377	T	G	18	74781421	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	7.41760273819733E-4	0.146
18	72493378	T	A	18	74781422	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0557591819416546	0.302
18	72493378	T	C	18	74781422	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.72430074967196E-4	0.002
18	72493378	T	G	18	74781422	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0593645665550635	0.32
18	72493379	T	A	18	74781423	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.555725757684825	0.476
18	72493379	T	C	18	74781423	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00425436148359066	0.022
18	72493379	T	G	18	74781423	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.905250568560497	0.532
18	72493380	T	A	18	74781424	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.86936649925017E-4	0.028
18	72493380	T	C	18	74781424	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.01861353744674E-4	0.0
18	72493380	T	G	18	74781424	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.01673146990868E-4	0.088
18	72493381	T	A	18	74781425	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0801245009355446	0.208
18	72493381	T	C	18	74781425	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.74836275144947E-4	0.02
18	72493381	T	G	18	74781425	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.997028302437173	0.668
18	72493382	A	C	18	74781426	y	y	splicing	ZNF407(NM_017757:exon3:c.4803-2A>C;NM_001146189:exon3:c.4803-2A>C;NM_001146190:exon3:c.4803-2A>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4803-2A>C;ENST00000309902:exon3:c.4803-2A>C;ENST00000299687:exon3:c.4803-2A>C;ENST00000577538:exon3:c.4803-2A>C)	.	.	0.999985532734767	0.936
18	72493382	A	G	18	74781426	y	y	splicing	ZNF407(NM_017757:exon3:c.4803-2A>G;NM_001146189:exon3:c.4803-2A>G;NM_001146190:exon3:c.4803-2A>G)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4803-2A>G;ENST00000309902:exon3:c.4803-2A>G;ENST00000299687:exon3:c.4803-2A>G;ENST00000577538:exon3:c.4803-2A>G)	.	.	0.999985532734767	0.936
18	72493382	A	T	18	74781426	y	y	splicing	ZNF407(NM_017757:exon3:c.4803-2A>T;NM_001146189:exon3:c.4803-2A>T;NM_001146190:exon3:c.4803-2A>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4803-2A>T;ENST00000309902:exon3:c.4803-2A>T;ENST00000299687:exon3:c.4803-2A>T;ENST00000577538:exon3:c.4803-2A>T)	.	.	0.999985532734767	0.936
18	72493383	G	A	18	74781427	y	y	splicing	ZNF407(NM_017757:exon3:c.4803-1G>A;NM_001146189:exon3:c.4803-1G>A;NM_001146190:exon3:c.4803-1G>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4803-1G>A;ENST00000309902:exon3:c.4803-1G>A;ENST00000299687:exon3:c.4803-1G>A;ENST00000577538:exon3:c.4803-1G>A)	.	.	0.999989263107695	0.936
18	72493383	G	C	18	74781427	y	y	splicing	ZNF407(NM_017757:exon3:c.4803-1G>C;NM_001146189:exon3:c.4803-1G>C;NM_001146190:exon3:c.4803-1G>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4803-1G>C;ENST00000309902:exon3:c.4803-1G>C;ENST00000299687:exon3:c.4803-1G>C;ENST00000577538:exon3:c.4803-1G>C)	.	.	0.999989263107695	0.936
18	72493383	G	T	18	74781427	y	y	splicing	ZNF407(NM_017757:exon3:c.4803-1G>T;NM_001146189:exon3:c.4803-1G>T;NM_001146190:exon3:c.4803-1G>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4803-1G>T;ENST00000309902:exon3:c.4803-1G>T;ENST00000299687:exon3:c.4803-1G>T;ENST00000577538:exon3:c.4803-1G>T)	.	.	0.999989263107695	0.936
18	72493384	G	A	18	74781428	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon3:c.G4803A:p.G1601G;ZNF407:NM_017757:exon3:c.G4803A:p.G1601G;ZNF407:NM_001146189:exon3:c.G4803A:p.G1601G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4803A:p.G1601G;ENSG00000215421:ENST00000299687:exon3:c.G4803A:p.G1601G;ENSG00000215421:ENST00000309902:exon3:c.G4803A:p.G1601G;ENSG00000215421:ENST00000582337:exon4:c.G4803A:p.G1601G;	0.463140024976648	0.596
18	72493384	G	C	18	74781428	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon3:c.G4803C:p.G1601G;ZNF407:NM_017757:exon3:c.G4803C:p.G1601G;ZNF407:NM_001146189:exon3:c.G4803C:p.G1601G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4803C:p.G1601G;ENSG00000215421:ENST00000299687:exon3:c.G4803C:p.G1601G;ENSG00000215421:ENST00000309902:exon3:c.G4803C:p.G1601G;ENSG00000215421:ENST00000582337:exon4:c.G4803C:p.G1601G;	0.712243139155493	0.53
18	72493384	G	T	18	74781428	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon3:c.G4803T:p.G1601G;ZNF407:NM_017757:exon3:c.G4803T:p.G1601G;ZNF407:NM_001146189:exon3:c.G4803T:p.G1601G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4803T:p.G1601G;ENSG00000215421:ENST00000299687:exon3:c.G4803T:p.G1601G;ENSG00000215421:ENST00000309902:exon3:c.G4803T:p.G1601G;ENSG00000215421:ENST00000582337:exon4:c.G4803T:p.G1601G;	0.936172067768046	0.604
18	72493385	G	A	18	74781429	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.G4804A:p.V1602I;ZNF407:NM_017757:exon3:c.G4804A:p.V1602I;ZNF407:NM_001146189:exon3:c.G4804A:p.V1602I;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4804A:p.V1602I;ENSG00000215421:ENST00000299687:exon3:c.G4804A:p.V1602I;ENSG00000215421:ENST00000309902:exon3:c.G4804A:p.V1602I;ENSG00000215421:ENST00000582337:exon4:c.G4804A:p.V1602I;	0.0122609772766066	0.192
18	72493385	G	C	18	74781429	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.G4804C:p.V1602L;ZNF407:NM_017757:exon3:c.G4804C:p.V1602L;ZNF407:NM_001146189:exon3:c.G4804C:p.V1602L;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4804C:p.V1602L;ENSG00000215421:ENST00000299687:exon3:c.G4804C:p.V1602L;ENSG00000215421:ENST00000309902:exon3:c.G4804C:p.V1602L;ENSG00000215421:ENST00000582337:exon4:c.G4804C:p.V1602L;	0.0102689333699042	0.122
18	72493385	G	T	18	74781429	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.G4804T:p.V1602F;ZNF407:NM_017757:exon3:c.G4804T:p.V1602F;ZNF407:NM_001146189:exon3:c.G4804T:p.V1602F;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4804T:p.V1602F;ENSG00000215421:ENST00000299687:exon3:c.G4804T:p.V1602F;ENSG00000215421:ENST00000309902:exon3:c.G4804T:p.V1602F;ENSG00000215421:ENST00000582337:exon4:c.G4804T:p.V1602F;	0.00178752914657154	0.018
18	72493456	A	C	18	74781500	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.A4875C:p.E1625D;ZNF407:NM_017757:exon3:c.A4875C:p.E1625D;ZNF407:NM_001146189:exon3:c.A4875C:p.E1625D;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.A4875C:p.E1625D;ENSG00000215421:ENST00000299687:exon3:c.A4875C:p.E1625D;ENSG00000215421:ENST00000309902:exon3:c.A4875C:p.E1625D;ENSG00000215421:ENST00000582337:exon4:c.A4875C:p.E1625D;	0.118463742970371	0.444
18	72493456	A	G	18	74781500	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon3:c.A4875G:p.E1625E;ZNF407:NM_017757:exon3:c.A4875G:p.E1625E;ZNF407:NM_001146189:exon3:c.A4875G:p.E1625E;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.A4875G:p.E1625E;ENSG00000215421:ENST00000299687:exon3:c.A4875G:p.E1625E;ENSG00000215421:ENST00000309902:exon3:c.A4875G:p.E1625E;ENSG00000215421:ENST00000582337:exon4:c.A4875G:p.E1625E;	0.00256338730572407	0.042
18	72493456	A	T	18	74781500	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.A4875T:p.E1625D;ZNF407:NM_017757:exon3:c.A4875T:p.E1625D;ZNF407:NM_001146189:exon3:c.A4875T:p.E1625D;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.A4875T:p.E1625D;ENSG00000215421:ENST00000299687:exon3:c.A4875T:p.E1625D;ENSG00000215421:ENST00000309902:exon3:c.A4875T:p.E1625D;ENSG00000215421:ENST00000582337:exon4:c.A4875T:p.E1625D;	0.9929817725523	0.682
18	72493457	A	C	18	74781501	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon3:c.A4876C:p.R1626R;ZNF407:NM_017757:exon3:c.A4876C:p.R1626R;ZNF407:NM_001146189:exon3:c.A4876C:p.R1626R;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.A4876C:p.R1626R;ENSG00000215421:ENST00000299687:exon3:c.A4876C:p.R1626R;ENSG00000215421:ENST00000309902:exon3:c.A4876C:p.R1626R;ENSG00000215421:ENST00000582337:exon4:c.A4876C:p.R1626R;	0.906118023542333	0.628
18	72493457	A	G	18	74781501	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.A4876G:p.R1626G;ZNF407:NM_017757:exon3:c.A4876G:p.R1626G;ZNF407:NM_001146189:exon3:c.A4876G:p.R1626G;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.A4876G:p.R1626G;ENSG00000215421:ENST00000299687:exon3:c.A4876G:p.R1626G;ENSG00000215421:ENST00000309902:exon3:c.A4876G:p.R1626G;ENSG00000215421:ENST00000582337:exon4:c.A4876G:p.R1626G;	0.999833728159988	0.982
18	72493457	A	T	18	74781501	y	y	exonic	ZNF407	stopgain SNV	ZNF407:NM_001146190:exon3:c.A4876T:p.R1626X;	exonic	ENSG00000215421	stopgain SNV	ENSG00000215421:ENST00000309902:exon3:c.A4876T:p.R1626X;ENSG00000215421:ENST00000582337:exon4:c.A4876T:p.R1626X;	0.99993861473047	0.992
18	72493458	G	A	18	74781502	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.G4877A:p.R1626K;ZNF407:NM_017757:exon3:c.G4877A:p.R1626K;ZNF407:NM_001146189:exon3:c.G4877A:p.R1626K;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4877A:p.R1626K;ENSG00000215421:ENST00000299687:exon3:c.G4877A:p.R1626K;ENSG00000215421:ENST00000309902:exon3:c.G4877A:p.R1626K;ENSG00000215421:ENST00000582337:exon4:c.G4877A:p.R1626K;	0.999970059439172	0.998
18	72493458	G	C	18	74781502	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.G4877C:p.R1626T;ZNF407:NM_017757:exon3:c.G4877C:p.R1626T;ZNF407:NM_001146189:exon3:c.G4877C:p.R1626T;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4877C:p.R1626T;ENSG00000215421:ENST00000299687:exon3:c.G4877C:p.R1626T;ENSG00000215421:ENST00000309902:exon3:c.G4877C:p.R1626T;ENSG00000215421:ENST00000582337:exon4:c.G4877C:p.R1626T;	0.999996579472455	1.0
18	72493458	G	T	18	74781502	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon3:c.G4877T:p.R1626I;ZNF407:NM_017757:exon3:c.G4877T:p.R1626M;ZNF407:NM_001146189:exon3:c.G4877T:p.R1626M;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon3:c.G4877T:p.R1626M;ENSG00000215421:ENST00000299687:exon3:c.G4877T:p.R1626M;ENSG00000215421:ENST00000309902:exon3:c.G4877T:p.R1626I;ENSG00000215421:ENST00000582337:exon4:c.G4877T:p.R1626I;	0.999975183529518	0.978
18	72493459	G	A	18	74781503	y	y	splicing	ZNF407(NM_017757:exon3:c.4877+1G>A;NM_001146189:exon3:c.4877+1G>A;NM_001146190:exon3:c.4877+1G>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4877+1G>A;ENST00000309902:exon3:c.4877+1G>A;ENST00000299687:exon3:c.4877+1G>A;ENST00000577538:exon3:c.4877+1G>A)	.	.	0.999989917668626	0.928
18	72493459	G	C	18	74781503	y	y	splicing	ZNF407(NM_017757:exon3:c.4877+1G>C;NM_001146189:exon3:c.4877+1G>C;NM_001146190:exon3:c.4877+1G>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4877+1G>C;ENST00000309902:exon3:c.4877+1G>C;ENST00000299687:exon3:c.4877+1G>C;ENST00000577538:exon3:c.4877+1G>C)	.	.	0.999989917668626	0.928
18	72493459	G	T	18	74781503	y	y	splicing	ZNF407(NM_017757:exon3:c.4877+1G>T;NM_001146189:exon3:c.4877+1G>T;NM_001146190:exon3:c.4877+1G>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4877+1G>T;ENST00000309902:exon3:c.4877+1G>T;ENST00000299687:exon3:c.4877+1G>T;ENST00000577538:exon3:c.4877+1G>T)	.	.	0.999989917668626	0.928
18	72493460	T	A	18	74781504	y	y	splicing	ZNF407(NM_017757:exon3:c.4877+2T>A;NM_001146189:exon3:c.4877+2T>A;NM_001146190:exon3:c.4877+2T>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4877+2T>A;ENST00000309902:exon3:c.4877+2T>A;ENST00000299687:exon3:c.4877+2T>A;ENST00000577538:exon3:c.4877+2T>A)	.	.	0.999989917668626	0.928
18	72493460	T	C	18	74781504	y	y	splicing	ZNF407(NM_017757:exon3:c.4877+2T>C;NM_001146189:exon3:c.4877+2T>C;NM_001146190:exon3:c.4877+2T>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4877+2T>C;ENST00000309902:exon3:c.4877+2T>C;ENST00000299687:exon3:c.4877+2T>C;ENST00000577538:exon3:c.4877+2T>C)	.	.	0.993179459523591	0.636
18	72493460	T	G	18	74781504	y	y	splicing	ZNF407(NM_017757:exon3:c.4877+2T>G;NM_001146189:exon3:c.4877+2T>G;NM_001146190:exon3:c.4877+2T>G)	.	.	splicing	ENSG00000215421(ENST00000582337:exon4:c.4877+2T>G;ENST00000309902:exon3:c.4877+2T>G;ENST00000299687:exon3:c.4877+2T>G;ENST00000577538:exon3:c.4877+2T>G)	.	.	0.999989917668626	0.928
18	72493461	A	C	18	74781505	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998765062386817	0.924
18	72493461	A	G	18	74781505	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.946380379004509	0.82
18	72493461	A	T	18	74781505	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998594528402967	0.932
18	72493462	A	C	18	74781506	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.273856301065881	0.33
18	72493462	A	G	18	74781506	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.67642774054604	0.428
18	72493462	A	T	18	74781506	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.701264543120011	0.408
18	72493463	T	A	18	74781507	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00152030900050413	0.016
18	72493463	T	C	18	74781507	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00101084219734004	0.038
18	72493463	T	G	18	74781507	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.022929435875E-4	0.058
18	72493464	T	A	18	74781508	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0117703755499431	0.18
18	72493464	T	C	18	74781508	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0498801271430575	0.298
18	72493464	T	G	18	74781508	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.68913900107952E-4	0.2
18	72493465	T	A	18	74781509	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.9024285243483E-5	0.014
18	72493465	T	C	18	74781509	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.87902836474545E-5	0.022
18	72493465	T	G	18	74781509	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.52596147882214E-5	0.002
18	72493466	T	A	18	74781510	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.20901237142119E-5	0.0
18	72493466	T	C	18	74781510	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.48598448464148E-5	0.0
18	72493466	T	G	18	74781510	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.30184187786073E-5	0.0
18	72515908	C	A	18	74803952	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.471596802426841	0.542
18	72515908	C	G	18	74803952	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.471596802426841	0.542
18	72515908	C	T	18	74803952	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.595261185288402	0.544
18	72515909	C	A	18	74803953	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0394358151388932	0.206
18	72515909	C	G	18	74803953	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0394358151388932	0.19
18	72515909	C	T	18	74803953	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0394358151388932	0.204
18	72515910	T	A	18	74803954	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0529518552706372	0.206
18	72515910	T	C	18	74803954	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.039322880240544	0.194
18	72515910	T	G	18	74803954	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.039322880240544	0.196
18	72515911	T	A	18	74803955	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.994029703713196	0.896
18	72515911	T	C	18	74803955	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.995046026859171	0.868
18	72515911	T	G	18	74803955	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.995046026859171	0.868
18	72515912	G	A	18	74803956	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00374641124920048	0.048
18	72515912	G	C	18	74803956	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00364554359801952	0.048
18	72515912	G	T	18	74803956	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00374641124920048	0.048
18	72515913	G	A	18	74803957	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00420900165087253	0.062
18	72515913	G	C	18	74803957	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00270312695873101	0.074
18	72515913	G	T	18	74803957	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00270312695873101	0.09
18	72515914	C	A	18	74803958	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.84209062630086E-4	0.006
18	72515914	C	G	18	74803958	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.84209062630086E-4	0.002
18	72515914	C	T	18	74803958	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.67117520130901E-4	0.002
18	72515915	T	A	18	74803959	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00183412754106237	0.03
18	72515915	T	C	18	74803959	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00181784132166176	0.032
18	72515915	T	G	18	74803959	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00181784132166176	0.034
18	72515916	T	A	18	74803960	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.34737869110726E-4	0.0
18	72515916	T	C	18	74803960	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.42663207171797E-5	0.0
18	72515916	T	G	18	74803960	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.42663207171797E-5	0.0
18	72515917	C	A	18	74803961	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.86075475573093E-5	0.0
18	72515917	C	G	18	74803961	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	7.83708300348738E-5	0.062
18	72515917	C	T	18	74803961	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.86075475573093E-5	0.0
18	72515918	A	C	18	74803962	y	y	splicing	ZNF407(NM_001146190:exon4:c.4878-2A>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon5:c.4878-2A>C;ENST00000309902:exon4:c.4878-2A>C)	.	.	0.00649020451620154	0.05
18	72515918	A	G	18	74803962	y	y	splicing	ZNF407(NM_001146190:exon4:c.4878-2A>G)	.	.	splicing	ENSG00000215421(ENST00000582337:exon5:c.4878-2A>G;ENST00000309902:exon4:c.4878-2A>G)	.	.	0.00649020451620154	0.048
18	72515918	A	T	18	74803962	y	y	splicing	ZNF407(NM_001146190:exon4:c.4878-2A>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon5:c.4878-2A>T;ENST00000309902:exon4:c.4878-2A>T)	.	.	0.00856653316777073	0.048
18	72515919	G	A	18	74803963	y	y	splicing	ZNF407(NM_001146190:exon4:c.4878-1G>A)	.	.	splicing	ENSG00000215421(ENST00000582337:exon5:c.4878-1G>A;ENST00000309902:exon4:c.4878-1G>A)	.	.	0.0351788593346591	0.16
18	72515919	G	C	18	74803963	y	y	splicing	ZNF407(NM_001146190:exon4:c.4878-1G>C)	.	.	splicing	ENSG00000215421(ENST00000582337:exon5:c.4878-1G>C;ENST00000309902:exon4:c.4878-1G>C)	.	.	0.0270527422625587	0.15
18	72515919	G	T	18	74803963	y	y	splicing	ZNF407(NM_001146190:exon4:c.4878-1G>T)	.	.	splicing	ENSG00000215421(ENST00000582337:exon5:c.4878-1G>T;ENST00000309902:exon4:c.4878-1G>T)	.	.	0.0301078311996355	0.162
18	72515920	A	C	18	74803964	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon4:c.A4878C:p.R1626S;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000309902:exon4:c.A4878C:p.R1626S;ENSG00000215421:ENST00000582337:exon5:c.A4878C:p.R1626S;	0.985954147223988	0.856
18	72515920	A	G	18	74803964	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_001146190:exon4:c.A4878G:p.R1626R;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000309902:exon4:c.A4878G:p.R1626R;ENSG00000215421:ENST00000582337:exon5:c.A4878G:p.R1626R;	0.0097837775082716	0.028
18	72515920	A	T	18	74803964	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon4:c.A4878T:p.R1626S;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000309902:exon4:c.A4878T:p.R1626S;ENSG00000215421:ENST00000582337:exon5:c.A4878T:p.R1626S;	0.985954147223988	0.846
18	72515921	G	A	18	74803965	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon4:c.G4879A:p.V1627I;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000309902:exon4:c.G4879A:p.V1627I;ENSG00000215421:ENST00000582337:exon5:c.G4879A:p.V1627I;	3.9469183429777E-5	0.0
18	72515921	G	C	18	74803965	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon4:c.G4879C:p.V1627L;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000309902:exon4:c.G4879C:p.V1627L;ENSG00000215421:ENST00000582337:exon5:c.G4879C:p.V1627L;	4.59797615271383E-5	0.0
18	72515921	G	T	18	74803965	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_001146190:exon4:c.G4879T:p.V1627L;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000309902:exon4:c.G4879T:p.V1627L;ENSG00000215421:ENST00000582337:exon5:c.G4879T:p.V1627L;	4.59797615271383E-5	0.0
18	72589141	T	A	18	74877185	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0847740488398707	0.32
18	72589141	T	C	18	74877185	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0151636188727306	0.19
18	72589141	T	G	18	74877185	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.165142828257662	0.32
18	72589142	C	A	18	74877186	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.54589869370334E-4	0.302
18	72589142	C	G	18	74877186	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.44305935398954E-4	0.242
18	72589142	C	T	18	74877186	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.31272018812922E-4	0.23
18	72589143	C	A	18	74877187	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.42294548735244E-4	0.13
18	72589143	C	G	18	74877187	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.24274092836269E-4	0.122
18	72589143	C	T	18	74877187	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.95374025051494E-5	0.092
18	72589144	T	A	18	74877188	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.00455489226783E-4	0.116
18	72589144	T	C	18	74877188	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.57748974491781E-6	0.084
18	72589144	T	G	18	74877188	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.47410820197674E-4	0.12
18	72589145	T	A	18	74877189	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0321150092931848	0.16
18	72589145	T	C	18	74877189	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00207956927202769	0.114
18	72589145	T	G	18	74877189	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0219373233577457	0.11
18	72589146	C	A	18	74877190	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	7.33776548442999E-4	0.12
18	72589146	C	G	18	74877190	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0023501854193489	0.088
18	72589146	C	T	18	74877190	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.04018952524853E-5	0.028
18	72589147	A	C	18	74877191	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.44998842023191E-5	0.008
18	72589147	A	G	18	74877191	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.19773395046439E-4	0.002
18	72589147	A	T	18	74877191	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.64929975152511E-5	0.0
18	72589148	T	A	18	74877192	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.99854221829887	0.824
18	72589148	T	C	18	74877192	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0023839336687621	0.084
18	72589148	T	G	18	74877192	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999803455082825	0.958
18	72589149	G	A	18	74877193	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0134233294426612	0.078
18	72589149	G	C	18	74877193	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00514881935989056	0.062
18	72589149	G	T	18	74877193	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0134860090057185	0.076
18	72589150	C	A	18	74877194	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999688705457617	0.944
18	72589150	C	G	18	74877194	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999923979573163	0.982
18	72589150	C	T	18	74877194	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.940079999109037	0.388
18	72589151	A	C	18	74877195	y	y	splicing	ZNF407(NM_017757:exon4:c.4878-2A>C;NM_001146189:exon4:c.4878-2A>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.4878-2A>C;ENST00000577538:exon4:c.4878-2A>C)	.	.	0.999989072007339	0.95
18	72589151	A	G	18	74877195	y	y	splicing	ZNF407(NM_017757:exon4:c.4878-2A>G;NM_001146189:exon4:c.4878-2A>G)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.4878-2A>G;ENST00000577538:exon4:c.4878-2A>G)	.	.	0.999989072007339	0.948
18	72589151	A	T	18	74877195	y	y	splicing	ZNF407(NM_017757:exon4:c.4878-2A>T;NM_001146189:exon4:c.4878-2A>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.4878-2A>T;ENST00000577538:exon4:c.4878-2A>T)	.	.	0.999989072007339	0.95
18	72589152	G	A	18	74877196	y	y	splicing	ZNF407(NM_017757:exon4:c.4878-1G>A;NM_001146189:exon4:c.4878-1G>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.4878-1G>A;ENST00000577538:exon4:c.4878-1G>A)	.	.	0.999991783345782	0.956
18	72589152	G	C	18	74877196	y	y	splicing	ZNF407(NM_017757:exon4:c.4878-1G>C;NM_001146189:exon4:c.4878-1G>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.4878-1G>C;ENST00000577538:exon4:c.4878-1G>C)	.	.	0.999991783345782	0.956
18	72589152	G	T	18	74877196	y	y	splicing	ZNF407(NM_017757:exon4:c.4878-1G>T;NM_001146189:exon4:c.4878-1G>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.4878-1G>T;ENST00000577538:exon4:c.4878-1G>T)	.	.	0.999991783345782	0.956
18	72589153	G	A	18	74877197	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon4:c.G4878A:p.R1626R;ZNF407:NM_001146189:exon4:c.G4878A:p.R1626R;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.G4878A:p.R1626R;ENSG00000215421:ENST00000299687:exon4:c.G4878A:p.R1626R;	0.998420384908061	0.84
18	72589153	G	C	18	74877197	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.G4878C:p.R1626S;ZNF407:NM_001146189:exon4:c.G4878C:p.R1626S;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.G4878C:p.R1626S;ENSG00000215421:ENST00000299687:exon4:c.G4878C:p.R1626S;	0.999660341551962	0.956
18	72589153	G	T	18	74877197	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.G4878T:p.R1626S;ZNF407:NM_001146189:exon4:c.G4878T:p.R1626S;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.G4878T:p.R1626S;ENSG00000215421:ENST00000299687:exon4:c.G4878T:p.R1626S;	0.999586659566042	0.972
18	72589154	A	C	18	74877198	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.A4879C:p.K1627Q;ZNF407:NM_001146189:exon4:c.A4879C:p.K1627Q;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.A4879C:p.K1627Q;ENSG00000215421:ENST00000299687:exon4:c.A4879C:p.K1627Q;	0.0318450244995888	0.22
18	72589154	A	G	18	74877198	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.A4879G:p.K1627E;ZNF407:NM_001146189:exon4:c.A4879G:p.K1627E;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.A4879G:p.K1627E;ENSG00000215421:ENST00000299687:exon4:c.A4879G:p.K1627E;	0.0138584450199082	0.204
18	72589154	A	T	18	74877198	y	y	exonic	ZNF407	stopgain SNV	ZNF407:NM_017757:exon4:c.A4879T:p.K1627X;ZNF407:NM_001146189:exon4:c.A4879T:p.K1627X;	exonic	ENSG00000215421	stopgain SNV	ENSG00000215421:ENST00000577538:exon4:c.A4879T:p.K1627X;ENSG00000215421:ENST00000299687:exon4:c.A4879T:p.K1627X;	0.0434750971513883	0.426
18	72589317	C	A	18	74877361	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.C5042A:p.T1681K;ZNF407:NM_001146189:exon4:c.C5042A:p.T1681K;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.C5042A:p.T1681K;ENSG00000215421:ENST00000299687:exon4:c.C5042A:p.T1681K;	0.841217433671109	0.79
18	72589317	C	G	18	74877361	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.C5042G:p.T1681R;ZNF407:NM_001146189:exon4:c.C5042G:p.T1681R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.C5042G:p.T1681R;ENSG00000215421:ENST00000299687:exon4:c.C5042G:p.T1681R;	0.642239834535947	0.608
18	72589317	C	T	18	74877361	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.C5042T:p.T1681I;ZNF407:NM_001146189:exon4:c.C5042T:p.T1681I;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.C5042T:p.T1681I;ENSG00000215421:ENST00000299687:exon4:c.C5042T:p.T1681I;	0.999607640664517	0.93
18	72589318	A	C	18	74877362	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon4:c.A5043C:p.T1681T;ZNF407:NM_001146189:exon4:c.A5043C:p.T1681T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.A5043C:p.T1681T;ENSG00000215421:ENST00000299687:exon4:c.A5043C:p.T1681T;	0.999937741762062	0.992
18	72589318	A	G	18	74877362	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon4:c.A5043G:p.T1681T;ZNF407:NM_001146189:exon4:c.A5043G:p.T1681T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.A5043G:p.T1681T;ENSG00000215421:ENST00000299687:exon4:c.A5043G:p.T1681T;	0.999958347271277	0.984
18	72589318	A	T	18	74877362	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon4:c.A5043T:p.T1681T;ZNF407:NM_001146189:exon4:c.A5043T:p.T1681T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.A5043T:p.T1681T;ENSG00000215421:ENST00000299687:exon4:c.A5043T:p.T1681T;	0.999969127811681	0.996
18	72589319	G	A	18	74877363	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.G5044A:p.G1682S;ZNF407:NM_001146189:exon4:c.G5044A:p.G1682S;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.G5044A:p.G1682S;ENSG00000215421:ENST00000299687:exon4:c.G5044A:p.G1682S;	0.999996651377889	1.0
18	72589319	G	C	18	74877363	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.G5044C:p.G1682R;ZNF407:NM_001146189:exon4:c.G5044C:p.G1682R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.G5044C:p.G1682R;ENSG00000215421:ENST00000299687:exon4:c.G5044C:p.G1682R;	0.999997643939171	1.0
18	72589319	G	T	18	74877363	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon4:c.G5044T:p.G1682C;ZNF407:NM_001146189:exon4:c.G5044T:p.G1682C;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon4:c.G5044T:p.G1682C;ENSG00000215421:ENST00000299687:exon4:c.G5044T:p.G1682C;	0.999993018555097	1.0
18	72589320	G	A	18	74877364	y	y	splicing	ZNF407(NM_017757:exon4:c.5044+1G>A;NM_001146189:exon4:c.5044+1G>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.5044+1G>A;ENST00000577538:exon4:c.5044+1G>A)	.	.	0.999988247793601	0.932
18	72589320	G	C	18	74877364	y	y	splicing	ZNF407(NM_017757:exon4:c.5044+1G>C;NM_001146189:exon4:c.5044+1G>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.5044+1G>C;ENST00000577538:exon4:c.5044+1G>C)	.	.	0.999988247793601	0.932
18	72589320	G	T	18	74877364	y	y	splicing	ZNF407(NM_017757:exon4:c.5044+1G>T;NM_001146189:exon4:c.5044+1G>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.5044+1G>T;ENST00000577538:exon4:c.5044+1G>T)	.	.	0.999988247793601	0.932
18	72589321	T	A	18	74877365	y	y	splicing	ZNF407(NM_017757:exon4:c.5044+2T>A;NM_001146189:exon4:c.5044+2T>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.5044+2T>A;ENST00000577538:exon4:c.5044+2T>A)	.	.	0.999976206550861	0.922
18	72589321	T	C	18	74877365	y	y	splicing	ZNF407(NM_017757:exon4:c.5044+2T>C;NM_001146189:exon4:c.5044+2T>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.5044+2T>C;ENST00000577538:exon4:c.5044+2T>C)	.	.	0.99992743322738	0.896
18	72589321	T	G	18	74877365	y	y	splicing	ZNF407(NM_017757:exon4:c.5044+2T>G;NM_001146189:exon4:c.5044+2T>G)	.	.	splicing	ENSG00000215421(ENST00000299687:exon4:c.5044+2T>G;ENST00000577538:exon4:c.5044+2T>G)	.	.	0.999976206550861	0.922
18	72589322	G	A	18	74877366	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.02439134348361E-5	0.128
18	72589322	G	C	18	74877366	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00585963061655499	0.214
18	72589322	G	T	18	74877366	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00291481285750914	0.21
18	72589323	T	A	18	74877367	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.44221675863556E-4	0.102
18	72589323	T	C	18	74877367	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0045271203964999	0.156
18	72589323	T	G	18	74877367	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.85847333114396E-4	0.012
18	72589324	G	A	18	74877368	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.995945577140045	0.744
18	72589324	G	C	18	74877368	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.996284291890702	0.686
18	72589324	G	T	18	74877368	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999685647885584	0.738
18	72589325	C	A	18	74877369	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.72674155212786E-4	0.032
18	72589325	C	G	18	74877369	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.42431490100278E-4	0.016
18	72589325	C	T	18	74877369	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.68148602687627E-5	0.004
18	72589326	C	A	18	74877370	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.31885195595737E-5	0.002
18	72589326	C	G	18	74877370	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.30813186183833E-4	0.012
18	72589326	C	T	18	74877370	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.01784985406706E-4	0.002
18	72589327	G	A	18	74877371	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.3004317960578E-5	0.0
18	72589327	G	C	18	74877371	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.81104709051921E-5	0.0
18	72589327	G	T	18	74877371	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.47348756796826E-5	0.0
18	72592980	T	A	18	74881024	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.983510129936072	0.79
18	72592980	T	C	18	74881024	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00889323565475326	0.14
18	72592980	T	G	18	74881024	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.971388489124105	0.694
18	72592981	T	A	18	74881025	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999985953826936	0.982
18	72592981	T	C	18	74881025	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.919501723834697	0.462
18	72592981	T	G	18	74881025	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998080005430914	0.848
18	72592982	G	A	18	74881026	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.976826747776211	0.528
18	72592982	G	C	18	74881026	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.507847675217406	0.502
18	72592982	G	T	18	74881026	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.507847675217406	0.462
18	72592983	T	A	18	74881027	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998791050176552	0.898
18	72592983	T	C	18	74881027	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0798192786003064	0.19
18	72592983	T	G	18	74881027	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.990607993844621	0.884
18	72592984	T	A	18	74881028	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999914461358429	0.962
18	72592984	T	C	18	74881028	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00490954549166831	0.118
18	72592984	T	G	18	74881028	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.910840104922541	0.654
18	72592985	G	A	18	74881029	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0917237777737376	0.248
18	72592985	G	C	18	74881029	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00160669310773055	0.05
18	72592985	G	T	18	74881029	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00179626264857384	0.04
18	72592986	C	A	18	74881030	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.75870078066379	0.63
18	72592986	C	G	18	74881030	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.718767248777392	0.61
18	72592986	C	T	18	74881030	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.07618160559318E-4	0.038
18	72592987	A	C	18	74881031	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.77859097225423E-4	0.0
18	72592987	A	G	18	74881031	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00402912729240895	0.046
18	72592987	A	T	18	74881031	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.74075413227037E-4	0.016
18	72592988	A	C	18	74881032	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0272035476321465	0.158
18	72592988	A	G	18	74881032	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999084697891494	0.832
18	72592988	A	T	18	74881032	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0627921480476636	0.256
18	72592989	C	A	18	74881033	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.990546140042333	0.858
18	72592989	C	G	18	74881033	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999736923633846	0.88
18	72592989	C	T	18	74881033	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0670475631570441	0.26
18	72592990	A	C	18	74881034	y	y	splicing	ZNF407(NM_017757:exon5:c.5045-2A>C;NM_001146189:exon5:c.5045-2A>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5045-2A>C;ENST00000577538:exon5:c.5045-2A>C)	.	.	0.999988630721284	0.938
18	72592990	A	G	18	74881034	y	y	splicing	ZNF407(NM_017757:exon5:c.5045-2A>G;NM_001146189:exon5:c.5045-2A>G)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5045-2A>G;ENST00000577538:exon5:c.5045-2A>G)	.	.	0.999988630721284	0.938
18	72592990	A	T	18	74881034	y	y	splicing	ZNF407(NM_017757:exon5:c.5045-2A>T;NM_001146189:exon5:c.5045-2A>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5045-2A>T;ENST00000577538:exon5:c.5045-2A>T)	.	.	0.999988630721284	0.94
18	72592991	G	A	18	74881035	y	y	splicing	ZNF407(NM_017757:exon5:c.5045-1G>A;NM_001146189:exon5:c.5045-1G>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5045-1G>A;ENST00000577538:exon5:c.5045-1G>A)	.	.	0.999988630721284	0.94
18	72592991	G	C	18	74881035	y	y	splicing	ZNF407(NM_017757:exon5:c.5045-1G>C;NM_001146189:exon5:c.5045-1G>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5045-1G>C;ENST00000577538:exon5:c.5045-1G>C)	.	.	0.999988630721284	0.94
18	72592991	G	T	18	74881035	y	y	splicing	ZNF407(NM_017757:exon5:c.5045-1G>T;NM_001146189:exon5:c.5045-1G>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5045-1G>T;ENST00000577538:exon5:c.5045-1G>T)	.	.	0.999988630721284	0.94
18	72592992	G	A	18	74881036	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon5:c.G5045A:p.G1682D;ZNF407:NM_001146189:exon5:c.G5045A:p.G1682D;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.G5045A:p.G1682D;ENSG00000215421:ENST00000299687:exon5:c.G5045A:p.G1682D;	0.999792591612095	0.928
18	72592992	G	C	18	74881036	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon5:c.G5045C:p.G1682A;ZNF407:NM_001146189:exon5:c.G5045C:p.G1682A;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.G5045C:p.G1682A;ENSG00000215421:ENST00000299687:exon5:c.G5045C:p.G1682A;	0.999837734417131	0.972
18	72592992	G	T	18	74881036	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon5:c.G5045T:p.G1682V;ZNF407:NM_001146189:exon5:c.G5045T:p.G1682V;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.G5045T:p.G1682V;ENSG00000215421:ENST00000299687:exon5:c.G5045T:p.G1682V;	0.999895957343262	0.992
18	72592993	C	A	18	74881037	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon5:c.C5046A:p.G1682G;ZNF407:NM_001146189:exon5:c.C5046A:p.G1682G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.C5046A:p.G1682G;ENSG00000215421:ENST00000299687:exon5:c.C5046A:p.G1682G;	0.179436710154241	0.176
18	72592993	C	G	18	74881037	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon5:c.C5046G:p.G1682G;ZNF407:NM_001146189:exon5:c.C5046G:p.G1682G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.C5046G:p.G1682G;ENSG00000215421:ENST00000299687:exon5:c.C5046G:p.G1682G;	0.0100150535327999	0.092
18	72592993	C	T	18	74881037	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon5:c.C5046T:p.G1682G;ZNF407:NM_001146189:exon5:c.C5046T:p.G1682G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.C5046T:p.G1682G;ENSG00000215421:ENST00000299687:exon5:c.C5046T:p.G1682G;	0.0036151773067557	0.072
18	72593073	C	A	18	74881117	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon5:c.C5126A:p.T1709K;ZNF407:NM_001146189:exon5:c.C5126A:p.T1709K;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.C5126A:p.T1709K;ENSG00000215421:ENST00000299687:exon5:c.C5126A:p.T1709K;	0.484654797196439	0.752
18	72593073	C	G	18	74881117	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon5:c.C5126G:p.T1709R;ZNF407:NM_001146189:exon5:c.C5126G:p.T1709R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.C5126G:p.T1709R;ENSG00000215421:ENST00000299687:exon5:c.C5126G:p.T1709R;	0.273223170258469	0.486
18	72593073	C	T	18	74881117	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon5:c.C5126T:p.T1709I;ZNF407:NM_001146189:exon5:c.C5126T:p.T1709I;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.C5126T:p.T1709I;ENSG00000215421:ENST00000299687:exon5:c.C5126T:p.T1709I;	0.99371169848727	0.78
18	72593074	A	C	18	74881118	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon5:c.A5127C:p.T1709T;ZNF407:NM_001146189:exon5:c.A5127C:p.T1709T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.A5127C:p.T1709T;ENSG00000215421:ENST00000299687:exon5:c.A5127C:p.T1709T;	0.975406507037551	0.828
18	72593074	A	G	18	74881118	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon5:c.A5127G:p.T1709T;ZNF407:NM_001146189:exon5:c.A5127G:p.T1709T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.A5127G:p.T1709T;ENSG00000215421:ENST00000299687:exon5:c.A5127G:p.T1709T;	0.993435931034142	0.918
18	72593074	A	T	18	74881118	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon5:c.A5127T:p.T1709T;ZNF407:NM_001146189:exon5:c.A5127T:p.T1709T;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.A5127T:p.T1709T;ENSG00000215421:ENST00000299687:exon5:c.A5127T:p.T1709T;	0.996737483565575	0.93
18	72593075	G	A	18	74881119	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon5:c.G5128A:p.G1710R;ZNF407:NM_001146189:exon5:c.G5128A:p.G1710R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.G5128A:p.G1710R;ENSG00000215421:ENST00000299687:exon5:c.G5128A:p.G1710R;	0.999979085230064	0.998
18	72593075	G	C	18	74881119	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon5:c.G5128C:p.G1710R;ZNF407:NM_001146189:exon5:c.G5128C:p.G1710R;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon5:c.G5128C:p.G1710R;ENSG00000215421:ENST00000299687:exon5:c.G5128C:p.G1710R;	0.99999538556915	1.0
18	72593075	G	T	18	74881119	y	y	exonic	ZNF407	stopgain SNV	ZNF407:NM_017757:exon5:c.G5128T:p.G1710X;ZNF407:NM_001146189:exon5:c.G5128T:p.G1710X;	exonic	ENSG00000215421	stopgain SNV	ENSG00000215421:ENST00000577538:exon5:c.G5128T:p.G1710X;ENSG00000215421:ENST00000299687:exon5:c.G5128T:p.G1710X;	0.99998051108935	0.998
18	72593076	G	A	18	74881120	y	y	splicing	ZNF407(NM_017757:exon5:c.5128+1G>A;NM_001146189:exon5:c.5128+1G>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5128+1G>A;ENST00000577538:exon5:c.5128+1G>A)	.	.	0.999988247793601	0.926
18	72593076	G	C	18	74881120	y	y	splicing	ZNF407(NM_017757:exon5:c.5128+1G>C;NM_001146189:exon5:c.5128+1G>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5128+1G>C;ENST00000577538:exon5:c.5128+1G>C)	.	.	0.999988247793601	0.926
18	72593076	G	T	18	74881120	y	y	splicing	ZNF407(NM_017757:exon5:c.5128+1G>T;NM_001146189:exon5:c.5128+1G>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5128+1G>T;ENST00000577538:exon5:c.5128+1G>T)	.	.	0.999988247793601	0.926
18	72593077	T	A	18	74881121	y	y	splicing	ZNF407(NM_017757:exon5:c.5128+2T>A;NM_001146189:exon5:c.5128+2T>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5128+2T>A;ENST00000577538:exon5:c.5128+2T>A)	.	.	0.999980930175561	0.858
18	72593077	T	C	18	74881121	y	y	splicing	ZNF407(NM_017757:exon5:c.5128+2T>C;NM_001146189:exon5:c.5128+2T>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5128+2T>C;ENST00000577538:exon5:c.5128+2T>C)	.	.	0.543611174471498	0.582
18	72593077	T	G	18	74881121	y	y	splicing	ZNF407(NM_017757:exon5:c.5128+2T>G;NM_001146189:exon5:c.5128+2T>G)	.	.	splicing	ENSG00000215421(ENST00000299687:exon5:c.5128+2T>G;ENST00000577538:exon5:c.5128+2T>G)	.	.	0.999980930175561	0.862
18	72593078	C	A	18	74881122	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.48742688863611E-4	0.114
18	72593078	C	G	18	74881122	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.92242193403524E-4	0.1
18	72593078	C	T	18	74881122	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00136746966741573	0.09
18	72593079	A	C	18	74881123	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.980923081222372	0.666
18	72593079	A	G	18	74881123	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.976136116072898	0.65
18	72593079	A	T	18	74881123	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.992956020113684	0.73
18	72593080	G	A	18	74881124	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.992299281082496	0.944
18	72593080	G	C	18	74881124	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.964192903891467	0.814
18	72593080	G	T	18	74881124	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.984981908450167	0.94
18	72593081	T	A	18	74881125	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00120047354404978	0.068
18	72593081	T	C	18	74881125	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00226959196258988	0.084
18	72593081	T	G	18	74881125	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00143257121553383	0.078
18	72593082	T	A	18	74881126	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.65907449709523E-5	0.006
18	72593082	T	C	18	74881126	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.65907449709523E-5	0.004
18	72593082	T	G	18	74881126	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.11096256620444E-5	0.002
18	72593083	C	A	18	74881127	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.46912207696308E-4	0.0
18	72593083	C	G	18	74881127	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.59978797919358E-4	0.002
18	72593083	C	T	18	74881127	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.06028840805858E-4	0.0
18	72601862	G	A	18	74889906	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.07218467078972E-4	0.028
18	72601862	G	C	18	74889906	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.78778313796105E-5	0.0
18	72601862	G	T	18	74889906	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.78778313796105E-5	0.018
18	72601863	A	C	18	74889907	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.63677121954813E-5	0.002
18	72601863	A	G	18	74889907	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.0535646073823E-5	0.03
18	72601863	A	T	18	74889907	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.7463160676016E-4	0.18
18	72601864	T	A	18	74889908	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00515158897046916	0.132
18	72601864	T	C	18	74889908	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.44890433422257E-4	0.08
18	72601864	T	G	18	74889908	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.9995316208846	0.828
18	72601865	A	C	18	74889909	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.94680186181628E-5	0.012
18	72601865	A	G	18	74889909	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.25031824071853E-5	0.02
18	72601865	A	T	18	74889909	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.27053487253526E-5	0.036
18	72601866	T	A	18	74889910	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00334314816250037	0.176
18	72601866	T	C	18	74889910	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.4506374454762E-5	0.016
18	72601866	T	G	18	74889910	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.997636150949135	0.816
18	72601867	A	C	18	74889911	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.76400282021761E-5	0.032
18	72601867	A	G	18	74889911	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.42959357231827E-4	0.036
18	72601867	A	T	18	74889911	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.17687605313274E-4	0.032
18	72601868	T	A	18	74889912	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.210094214583992	0.51
18	72601868	T	C	18	74889912	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.93751652314052E-4	0.044
18	72601868	T	G	18	74889912	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999959988913015	0.958
18	72601869	T	A	18	74889913	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0871001745817059	0.268
18	72601869	T	C	18	74889913	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.28446159212888E-4	0.208
18	72601869	T	G	18	74889913	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.162673116092417	0.256
18	72601870	A	C	18	74889914	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.8700252889555E-4	0.192
18	72601870	A	G	18	74889914	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00212618684464834	0.174
18	72601870	A	T	18	74889914	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00243430759460767	0.148
18	72601871	C	A	18	74889915	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.994287038783526	0.886
18	72601871	C	G	18	74889915	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999080871760415	0.794
18	72601871	C	T	18	74889915	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0332433128390954	0.284
18	72601872	A	C	18	74889916	y	y	splicing	ZNF407(NM_017757:exon6:c.5129-2A>C;NM_001146189:exon6:c.5129-2A>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5129-2A>C;ENST00000577538:exon6:c.5129-2A>C)	.	.	0.999989125585301	0.944
18	72601872	A	G	18	74889916	y	y	splicing	ZNF407(NM_017757:exon6:c.5129-2A>G;NM_001146189:exon6:c.5129-2A>G)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5129-2A>G;ENST00000577538:exon6:c.5129-2A>G)	.	.	0.999989125585301	0.944
18	72601872	A	T	18	74889916	y	y	splicing	ZNF407(NM_017757:exon6:c.5129-2A>T;NM_001146189:exon6:c.5129-2A>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5129-2A>T;ENST00000577538:exon6:c.5129-2A>T)	.	.	0.999989125585301	0.944
18	72601873	G	A	18	74889917	y	y	splicing	ZNF407(NM_017757:exon6:c.5129-1G>A;NM_001146189:exon6:c.5129-1G>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5129-1G>A;ENST00000577538:exon6:c.5129-1G>A)	.	.	0.999989125585301	0.944
18	72601873	G	C	18	74889917	y	y	splicing	ZNF407(NM_017757:exon6:c.5129-1G>C;NM_001146189:exon6:c.5129-1G>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5129-1G>C;ENST00000577538:exon6:c.5129-1G>C)	.	.	0.999989125585301	0.944
18	72601873	G	T	18	74889917	y	y	splicing	ZNF407(NM_017757:exon6:c.5129-1G>T;NM_001146189:exon6:c.5129-1G>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5129-1G>T;ENST00000577538:exon6:c.5129-1G>T)	.	.	0.999989125585301	0.944
18	72601874	G	A	18	74889918	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon6:c.G5129A:p.G1710E;ZNF407:NM_001146189:exon6:c.G5129A:p.G1710E;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.G5129A:p.G1710E;ENSG00000215421:ENST00000299687:exon6:c.G5129A:p.G1710E;	0.0738286500062041	0.354
18	72601874	G	C	18	74889918	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon6:c.G5129C:p.G1710A;ZNF407:NM_001146189:exon6:c.G5129C:p.G1710A;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.G5129C:p.G1710A;ENSG00000215421:ENST00000299687:exon6:c.G5129C:p.G1710A;	0.891771671929486	0.618
18	72601874	G	T	18	74889918	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon6:c.G5129T:p.G1710V;ZNF407:NM_001146189:exon6:c.G5129T:p.G1710V;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.G5129T:p.G1710V;ENSG00000215421:ENST00000299687:exon6:c.G5129T:p.G1710V;	0.995307021768571	0.742
18	72601875	A	C	18	74889919	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon6:c.A5130C:p.G1710G;ZNF407:NM_001146189:exon6:c.A5130C:p.G1710G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.A5130C:p.G1710G;ENSG00000215421:ENST00000299687:exon6:c.A5130C:p.G1710G;	0.00987882515649375	0.112
18	72601875	A	G	18	74889919	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon6:c.A5130G:p.G1710G;ZNF407:NM_001146189:exon6:c.A5130G:p.G1710G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.A5130G:p.G1710G;ENSG00000215421:ENST00000299687:exon6:c.A5130G:p.G1710G;	0.0119344606966317	0.08
18	72601875	A	T	18	74889919	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon6:c.A5130T:p.G1710G;ZNF407:NM_001146189:exon6:c.A5130T:p.G1710G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.A5130T:p.G1710G;ENSG00000215421:ENST00000299687:exon6:c.A5130T:p.G1710G;	0.0044370066342325	0.11
18	72601992	C	A	18	74890036	y	y	exonic	ZNF407	stopgain SNV	ZNF407:NM_017757:exon6:c.C5247A:p.Y1749X;ZNF407:NM_001146189:exon6:c.C5247A:p.Y1749X;	exonic	ENSG00000215421	stopgain SNV	ENSG00000215421:ENST00000577538:exon6:c.C5247A:p.Y1749X;ENSG00000215421:ENST00000299687:exon6:c.C5247A:p.Y1749X;	0.708406457068183	0.784
18	72601992	C	G	18	74890036	y	y	exonic	ZNF407	stopgain SNV	ZNF407:NM_017757:exon6:c.C5247G:p.Y1749X;ZNF407:NM_001146189:exon6:c.C5247G:p.Y1749X;	exonic	ENSG00000215421	stopgain SNV	ENSG00000215421:ENST00000577538:exon6:c.C5247G:p.Y1749X;ENSG00000215421:ENST00000299687:exon6:c.C5247G:p.Y1749X;	0.552060335430159	0.582
18	72601992	C	T	18	74890036	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon6:c.C5247T:p.Y1749Y;ZNF407:NM_001146189:exon6:c.C5247T:p.Y1749Y;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.C5247T:p.Y1749Y;ENSG00000215421:ENST00000299687:exon6:c.C5247T:p.Y1749Y;	0.998580647088641	0.838
18	72601993	A	C	18	74890037	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon6:c.A5248C:p.R1750R;ZNF407:NM_001146189:exon6:c.A5248C:p.R1750R;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.A5248C:p.R1750R;ENSG00000215421:ENST00000299687:exon6:c.A5248C:p.R1750R;	0.999640043122177	0.918
18	72601993	A	G	18	74890037	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon6:c.A5248G:p.R1750G;ZNF407:NM_001146189:exon6:c.A5248G:p.R1750G;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.A5248G:p.R1750G;ENSG00000215421:ENST00000299687:exon6:c.A5248G:p.R1750G;	0.999971435046514	0.974
18	72601993	A	T	18	74890037	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon6:c.A5248T:p.R1750W;ZNF407:NM_001146189:exon6:c.A5248T:p.R1750W;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.A5248T:p.R1750W;ENSG00000215421:ENST00000299687:exon6:c.A5248T:p.R1750W;	0.999861617438187	0.996
18	72601994	G	A	18	74890038	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon6:c.G5249A:p.R1750K;ZNF407:NM_001146189:exon6:c.G5249A:p.R1750K;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.G5249A:p.R1750K;ENSG00000215421:ENST00000299687:exon6:c.G5249A:p.R1750K;	0.999994222381975	1.0
18	72601994	G	C	18	74890038	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon6:c.G5249C:p.R1750T;ZNF407:NM_001146189:exon6:c.G5249C:p.R1750T;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.G5249C:p.R1750T;ENSG00000215421:ENST00000299687:exon6:c.G5249C:p.R1750T;	0.999998009519537	0.988
18	72601994	G	T	18	74890038	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon6:c.G5249T:p.R1750M;ZNF407:NM_001146189:exon6:c.G5249T:p.R1750M;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon6:c.G5249T:p.R1750M;ENSG00000215421:ENST00000299687:exon6:c.G5249T:p.R1750M;	0.999993018555097	0.992
18	72601995	G	A	18	74890039	y	y	splicing	ZNF407(NM_017757:exon6:c.5249+1G>A;NM_001146189:exon6:c.5249+1G>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5249+1G>A;ENST00000577538:exon6:c.5249+1G>A)	.	.	0.999988247793601	0.932
18	72601995	G	C	18	74890039	y	y	splicing	ZNF407(NM_017757:exon6:c.5249+1G>C;NM_001146189:exon6:c.5249+1G>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5249+1G>C;ENST00000577538:exon6:c.5249+1G>C)	.	.	0.999988247793601	0.932
18	72601995	G	T	18	74890039	y	y	splicing	ZNF407(NM_017757:exon6:c.5249+1G>T;NM_001146189:exon6:c.5249+1G>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5249+1G>T;ENST00000577538:exon6:c.5249+1G>T)	.	.	0.999988247793601	0.932
18	72601996	T	A	18	74890040	y	y	splicing	ZNF407(NM_017757:exon6:c.5249+2T>A;NM_001146189:exon6:c.5249+2T>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5249+2T>A;ENST00000577538:exon6:c.5249+2T>A)	.	.	0.999953283077291	0.862
18	72601996	T	C	18	74890040	y	y	splicing	ZNF407(NM_017757:exon6:c.5249+2T>C;NM_001146189:exon6:c.5249+2T>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5249+2T>C;ENST00000577538:exon6:c.5249+2T>C)	.	.	0.95599568945079	0.564
18	72601996	T	G	18	74890040	y	y	splicing	ZNF407(NM_017757:exon6:c.5249+2T>G;NM_001146189:exon6:c.5249+2T>G)	.	.	splicing	ENSG00000215421(ENST00000299687:exon6:c.5249+2T>G;ENST00000577538:exon6:c.5249+2T>G)	.	.	0.999953283077291	0.862
18	72601997	A	C	18	74890041	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999803546600311	0.986
18	72601997	A	G	18	74890041	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999397231641826	0.874
18	72601997	A	T	18	74890041	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999852021597897	0.914
18	72601998	A	C	18	74890042	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.225817325395509	0.36
18	72601998	A	G	18	74890042	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.347362588142527	0.308
18	72601998	A	T	18	74890042	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.433445277895406	0.32
18	72601999	T	A	18	74890043	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.74480148507599E-5	0.006
18	72601999	T	C	18	74890043	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	6.16620491838847E-5	0.008
18	72601999	T	G	18	74890043	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.19569713474617E-4	0.07
18	72602000	G	A	18	74890044	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.83098873921473E-4	0.072
18	72602000	G	C	18	74890044	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.1611567438169E-4	0.084
18	72602000	G	T	18	74890044	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.50527046461606E-5	0.026
18	72602001	A	C	18	74890045	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.14559567731368E-5	0.0
18	72602001	A	G	18	74890045	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.82300982845093E-4	0.0
18	72602001	A	T	18	74890045	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	9.09610893129969E-4	0.034
18	72602002	C	A	18	74890046	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.1997810346593E-4	0.0
18	72602002	C	G	18	74890046	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.9794145372796E-4	0.0
18	72602002	C	T	18	74890046	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.0030960233099E-4	0.0
18	72632458	C	A	18	74920502	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00415868846520793	0.064
18	72632458	C	G	18	74920502	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.74008351351364E-4	0.044
18	72632458	C	T	18	74920502	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	7.05041504283029E-5	0.0
18	72632459	T	A	18	74920503	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.124108910520946	0.49
18	72632459	T	C	18	74920503	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.23731180832709E-4	0.164
18	72632459	T	G	18	74920503	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0988108388313549	0.494
18	72632460	T	A	18	74920504	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00312629088896904	0.29
18	72632460	T	C	18	74920504	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.48810953688984E-4	0.022
18	72632460	T	G	18	74920504	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00253550955799594	0.288
18	72632461	A	C	18	74920505	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.25876667093115E-6	0.0
18	72632461	A	G	18	74920505	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.82778644520797E-5	0.0
18	72632461	A	T	18	74920505	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.25876667093115E-6	0.0
18	72632462	C	A	18	74920506	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.15971238579299E-4	0.024
18	72632462	C	G	18	74920506	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.996968300888216	0.948
18	72632462	C	T	18	74920506	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.22088054214381E-5	0.0
18	72632463	T	A	18	74920507	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0013122140929752	0.058
18	72632463	T	C	18	74920507	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.45743725007239E-5	0.0
18	72632463	T	G	18	74920507	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00105188178086462	0.064
18	72632464	T	A	18	74920508	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999509137397744	0.948
18	72632464	T	C	18	74920508	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.45374219031218E-5	0.01
18	72632464	T	G	18	74920508	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0121596406478081	0.284
18	72632465	G	A	18	74920509	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.7363055973064	0.57
18	72632465	G	C	18	74920509	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.66401231053052E-5	0.0
18	72632465	G	T	18	74920509	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.98852263072105E-5	0.008
18	72632466	G	A	18	74920510	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.92813422166689E-5	0.0
18	72632466	G	C	18	74920510	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.67710519139467E-5	0.002
18	72632466	G	T	18	74920510	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.79310572903282E-5	0.0
18	72632467	T	A	18	74920511	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.193542390838447	0.372
18	72632467	T	C	18	74920511	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.05860150989261E-4	0.018
18	72632467	T	G	18	74920511	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.997101792006342	0.694
18	72632468	A	C	18	74920512	y	y	splicing	ZNF407(NM_017757:exon7:c.5250-2A>C;NM_001146189:exon7:c.5250-2A>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon7:c.5250-2A>C;ENST00000577538:exon7:c.5250-2A>C)	.	.	0.999989263107695	0.926
18	72632468	A	G	18	74920512	y	y	splicing	ZNF407(NM_017757:exon7:c.5250-2A>G;NM_001146189:exon7:c.5250-2A>G)	.	.	splicing	ENSG00000215421(ENST00000299687:exon7:c.5250-2A>G;ENST00000577538:exon7:c.5250-2A>G)	.	.	0.999989263107695	0.926
18	72632468	A	T	18	74920512	y	y	splicing	ZNF407(NM_017757:exon7:c.5250-2A>T;NM_001146189:exon7:c.5250-2A>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon7:c.5250-2A>T;ENST00000577538:exon7:c.5250-2A>T)	.	.	0.999989263107695	0.936
18	72632469	G	A	18	74920513	y	y	splicing	ZNF407(NM_017757:exon7:c.5250-1G>A;NM_001146189:exon7:c.5250-1G>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon7:c.5250-1G>A;ENST00000577538:exon7:c.5250-1G>A)	.	.	0.999985896210868	0.924
18	72632469	G	C	18	74920513	y	y	splicing	ZNF407(NM_017757:exon7:c.5250-1G>C;NM_001146189:exon7:c.5250-1G>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon7:c.5250-1G>C;ENST00000577538:exon7:c.5250-1G>C)	.	.	0.999985896210868	0.928
18	72632469	G	T	18	74920513	y	y	splicing	ZNF407(NM_017757:exon7:c.5250-1G>T;NM_001146189:exon7:c.5250-1G>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon7:c.5250-1G>T;ENST00000577538:exon7:c.5250-1G>T)	.	.	0.999985896210868	0.928
18	72632470	G	A	18	74920514	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon7:c.G5250A:p.R1750R;ZNF407:NM_001146189:exon7:c.G5250A:p.R1750R;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000577538:exon7:c.G5250A:p.R1750R;ENSG00000215421:ENST00000299687:exon7:c.G5250A:p.R1750R;	0.0132833978834293	0.224
18	72632470	G	C	18	74920514	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon7:c.G5250C:p.R1750S;ZNF407:NM_001146189:exon7:c.G5250C:p.R1750S;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon7:c.G5250C:p.R1750S;ENSG00000215421:ENST00000299687:exon7:c.G5250C:p.R1750S;	0.0983917573257062	0.36
18	72632470	G	T	18	74920514	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon7:c.G5250T:p.R1750S;ZNF407:NM_001146189:exon7:c.G5250T:p.R1750S;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon7:c.G5250T:p.R1750S;ENSG00000215421:ENST00000299687:exon7:c.G5250T:p.R1750S;	0.64209087963863	0.658
18	72632471	T	A	18	74920515	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon7:c.T5251A:p.S1751T;ZNF407:NM_001146189:exon7:c.T5251A:p.S1751T;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon7:c.T5251A:p.S1751T;ENSG00000215421:ENST00000299687:exon7:c.T5251A:p.S1751T;	0.910546394903807	0.622
18	72632471	T	C	18	74920515	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon7:c.T5251C:p.S1751P;ZNF407:NM_001146189:exon7:c.T5251C:p.S1751P;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon7:c.T5251C:p.S1751P;ENSG00000215421:ENST00000299687:exon7:c.T5251C:p.S1751P;	0.958357433651798	0.714
18	72632471	T	G	18	74920515	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon7:c.T5251G:p.S1751A;ZNF407:NM_001146189:exon7:c.T5251G:p.S1751A;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000577538:exon7:c.T5251G:p.S1751A;ENSG00000215421:ENST00000299687:exon7:c.T5251G:p.S1751A;	0.790129993409411	0.506
18	72775094	T	A	18	75063138	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.999882271310165	0.924
18	72775094	T	C	18	75063138	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.594101289595988	0.504
18	72775094	T	G	18	75063138	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.992255615634443	0.674
18	72775095	G	A	18	75063139	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00511968041032092	0.112
18	72775095	G	C	18	75063139	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00250442717934007	0.032
18	72775095	G	T	18	75063139	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00102938830350219	0.016
18	72775096	T	A	18	75063140	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.347795923285307	0.428
18	72775096	T	C	18	75063140	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00396128906421882	0.106
18	72775096	T	G	18	75063140	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.101622828736421	0.356
18	72775097	C	A	18	75063141	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.156709449592271	0.254
18	72775097	C	G	18	75063141	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0575816605895444	0.248
18	72775097	C	T	18	75063141	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00910783977589011	0.146
18	72775098	T	A	18	75063142	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0119323150853263	0.07
18	72775098	T	C	18	75063142	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	8.94164810641651E-4	0.062
18	72775098	T	G	18	75063142	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00431843080247235	0.154
18	72775099	C	A	18	75063143	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0210274461994535	0.246
18	72775099	C	G	18	75063143	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.0210274461994535	0.234
18	72775099	C	T	18	75063143	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	5.04756076825319E-4	0.044
18	72775100	C	A	18	75063144	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00167510070214865	0.13
18	72775100	C	G	18	75063144	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.00475498794019229	0.178
18	72775100	C	T	18	75063144	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.80654075882365E-5	0.04
18	72775101	C	A	18	75063145	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	7.91183868106528E-4	0.11
18	72775101	C	G	18	75063145	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	7.51409171574797E-4	0.146
18	72775101	C	T	18	75063145	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	1.45769126195332E-5	0.046
18	72775102	T	A	18	75063146	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.5252306674707E-5	0.0
18	72775102	T	C	18	75063146	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	2.27330276585698E-5	0.0
18	72775102	T	G	18	75063146	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	4.30871500512943E-5	0.002
18	72775103	T	A	18	75063147	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.379368739044715	0.468
18	72775103	T	C	18	75063147	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	3.54206360347561E-4	0.038
18	72775103	T	G	18	75063147	y	y	intronic	ZNF407	.	.	intronic	ENSG00000215421	.	.	0.998177789055971	0.686
18	72775104	A	C	18	75063148	y	y	splicing	ZNF407(NM_017757:exon8:c.5429-2A>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon8:c.5429-2A>C)	.	.	0.999981760802075	0.936
18	72775104	A	G	18	75063148	y	y	splicing	ZNF407(NM_017757:exon8:c.5429-2A>G)	.	.	splicing	ENSG00000215421(ENST00000299687:exon8:c.5429-2A>G)	.	.	0.999981760802075	0.936
18	72775104	A	T	18	75063148	y	y	splicing	ZNF407(NM_017757:exon8:c.5429-2A>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon8:c.5429-2A>T)	.	.	0.999981760802075	0.936
18	72775105	G	A	18	75063149	y	y	splicing	ZNF407(NM_017757:exon8:c.5429-1G>A)	.	.	splicing	ENSG00000215421(ENST00000299687:exon8:c.5429-1G>A)	.	.	0.999981760802075	0.936
18	72775105	G	C	18	75063149	y	y	splicing	ZNF407(NM_017757:exon8:c.5429-1G>C)	.	.	splicing	ENSG00000215421(ENST00000299687:exon8:c.5429-1G>C)	.	.	0.999981760802075	0.936
18	72775105	G	T	18	75063149	y	y	splicing	ZNF407(NM_017757:exon8:c.5429-1G>T)	.	.	splicing	ENSG00000215421(ENST00000299687:exon8:c.5429-1G>T)	.	.	0.999981760802075	0.936
18	72775106	G	A	18	75063150	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon8:c.G5429A:p.G1810D;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000299687:exon8:c.G5429A:p.G1810D;	0.994836168688921	0.812
18	72775106	G	C	18	75063150	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon8:c.G5429C:p.G1810A;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000299687:exon8:c.G5429C:p.G1810A;	0.999563080878627	0.976
18	72775106	G	T	18	75063150	y	y	exonic	ZNF407	nonsynonymous SNV	ZNF407:NM_017757:exon8:c.G5429T:p.G1810V;	exonic	ENSG00000215421	nonsynonymous SNV	ENSG00000215421:ENST00000299687:exon8:c.G5429T:p.G1810V;	0.999647076430731	0.992
18	72775107	C	A	18	75063151	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon8:c.C5430A:p.G1810G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000299687:exon8:c.C5430A:p.G1810G;	0.00548961310392402	0.036
18	72775107	C	G	18	75063151	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon8:c.C5430G:p.G1810G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000299687:exon8:c.C5430G:p.G1810G;	0.00215259373047004	0.022
18	72775107	C	T	18	75063151	y	y	exonic	ZNF407	synonymous SNV	ZNF407:NM_017757:exon8:c.C5430T:p.G1810G;	exonic	ENSG00000215421	synonymous SNV	ENSG00000215421:ENST00000299687:exon8:c.C5430T:p.G1810G;	0.00383927449877547	0.022
18	72914294	A	C	18	75202339	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon2:c.T211G:p.F71V;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon2:c.T211G:p.F71V;	0.00620137319159344	0.136
18	72914294	A	G	18	75202339	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon2:c.T211C:p.F71L;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon2:c.T211C:p.F71L;	0.00923013602782095	0.14
18	72914294	A	T	18	75202339	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon2:c.T211A:p.F71I;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon2:c.T211A:p.F71I;	0.00575147074772869	0.142
18	72914295	T	A	18	75202340	y	y	exonic	ZADH2	synonymous SNV	ZADH2:NM_175907:exon2:c.A210T:p.R70R;	exonic	ENSG00000180011	synonymous SNV	ENSG00000180011:ENST00000322342:exon2:c.A210T:p.R70R;	0.0485190882810873	0.22
18	72914295	T	C	18	75202340	y	y	exonic	ZADH2	synonymous SNV	ZADH2:NM_175907:exon2:c.A210G:p.R70R;	exonic	ENSG00000180011	synonymous SNV	ENSG00000180011:ENST00000322342:exon2:c.A210G:p.R70R;	0.00223694363059949	0.036
18	72914295	T	G	18	75202340	y	y	exonic	ZADH2	synonymous SNV	ZADH2:NM_175907:exon2:c.A210C:p.R70R;	exonic	ENSG00000180011	synonymous SNV	ENSG00000180011:ENST00000322342:exon2:c.A210C:p.R70R;	0.0466447462393371	0.222
18	72914296	C	A	18	75202341	y	y	splicing	ZADH2(NM_175907:exon3:c.210-1G>T)	.	.	splicing	ENSG00000180011(ENST00000322342:exon3:c.210-1G>T)	.	.	0.999988247793601	0.926
18	72914296	C	G	18	75202341	y	y	splicing	ZADH2(NM_175907:exon3:c.210-1G>C)	.	.	splicing	ENSG00000180011(ENST00000322342:exon3:c.210-1G>C)	.	.	0.999988247793601	0.926
18	72914296	C	T	18	75202341	y	y	splicing	ZADH2(NM_175907:exon3:c.210-1G>A)	.	.	splicing	ENSG00000180011(ENST00000322342:exon3:c.210-1G>A)	.	.	0.999988247793601	0.926
18	72914297	T	A	18	75202342	y	y	splicing	ZADH2(NM_175907:exon3:c.210-2A>T)	.	.	splicing	ENSG00000180011(ENST00000322342:exon3:c.210-2A>T)	.	.	0.999986607513753	0.922
18	72914297	T	C	18	75202342	y	y	splicing	ZADH2(NM_175907:exon3:c.210-2A>G)	.	.	splicing	ENSG00000180011(ENST00000322342:exon3:c.210-2A>G)	.	.	0.999986607513753	0.922
18	72914297	T	G	18	75202342	y	y	splicing	ZADH2(NM_175907:exon3:c.210-2A>C)	.	.	splicing	ENSG00000180011(ENST00000322342:exon3:c.210-2A>C)	.	.	0.999986607513753	0.922
18	72914298	A	C	18	75202343	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.818972306901865	0.578
18	72914298	A	G	18	75202343	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	6.66431736094852E-5	0.004
18	72914298	A	T	18	75202343	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00978053060804739	0.178
18	72914299	A	C	18	75202344	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.77576192354455E-4	0.03
18	72914299	A	G	18	75202344	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.9639599142977E-4	0.012
18	72914299	A	T	18	75202344	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	2.96158093960296E-4	0.034
18	72914300	A	C	18	75202345	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.0031481838859242	0.216
18	72914300	A	G	18	75202345	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	6.84924911182647E-4	0.02
18	72914300	A	T	18	75202345	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00177181715109758	0.17
18	72914301	A	C	18	75202346	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00743252204170415	0.18
18	72914301	A	G	18	75202346	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	2.92014191821217E-4	0.008
18	72914301	A	T	18	75202346	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00537289197619225	0.14
18	72914302	G	A	18	75202347	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	6.78526528221916E-5	0.016
18	72914302	G	C	18	75202347	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	9.1796998293331E-5	0.028
18	72914302	G	T	18	75202347	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	9.96265726012205E-5	0.022
18	72914303	A	C	18	75202348	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00254962516646772	0.114
18	72914303	A	G	18	75202348	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.73924031071596E-4	0.03
18	72914303	A	T	18	75202348	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00231258170413288	0.144
18	72914304	A	C	18	75202349	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00189521803331059	0.272
18	72914304	A	G	18	75202349	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00156315728021925	0.032
18	72914304	A	T	18	75202349	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00242588051625222	0.248
18	72914305	A	C	18	75202350	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.8001520197674E-4	0.162
18	72914305	A	G	18	75202350	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.96304420421094E-4	0.0
18	72914305	A	T	18	75202350	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	2.72371197655986E-4	0.148
18	72914306	A	C	18	75202351	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.71934233360682E-4	0.11
18	72914306	A	G	18	75202351	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.96796898866102E-4	0.018
18	72914306	A	T	18	75202351	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	2.28003446775982E-4	0.106
18	72914307	C	A	18	75202352	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	5.90364825262774E-4	0.022
18	72914307	C	G	18	75202352	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	2.05754676905862E-4	0.012
18	72914307	C	T	18	75202352	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	6.30316115121403E-4	0.048
18	72917140	G	A	18	75205185	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	8.46054017672216E-5	0.0
18	72917140	G	C	18	75205185	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.15267776820636E-5	0.0
18	72917140	G	T	18	75205185	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.15267776820636E-5	0.0
18	72917141	T	A	18	75205186	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	2.52559106735794E-4	0.002
18	72917141	T	C	18	75205186	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.97104693658708E-4	0.002
18	72917141	T	G	18	75205186	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.97104693658708E-4	0.002
18	72917142	C	A	18	75205187	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.0016992655106263	0.02
18	72917142	C	G	18	75205187	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00168112165961349	0.016
18	72917142	C	T	18	75205187	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00199248877438448	0.016
18	72917143	C	A	18	75205188	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00591674320844755	0.032
18	72917143	C	G	18	75205188	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00682883368519733	0.034
18	72917143	C	T	18	75205188	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.0070691735397151	0.03
18	72917144	T	A	18	75205189	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.8547691718422E-4	0.008
18	72917144	T	C	18	75205189	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.8547691718422E-4	0.014
18	72917144	T	G	18	75205189	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.8547691718422E-4	0.014
18	72917145	T	A	18	75205190	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.53582951719438E-4	0.016
18	72917145	T	C	18	75205190	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.31202159182199E-4	0.016
18	72917145	T	G	18	75205190	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.31202159182199E-4	0.016
18	72917146	A	C	18	75205191	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.00116065968722173	0.0
18	72917146	A	G	18	75205191	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.00116065968722173	0.0
18	72917146	A	T	18	75205191	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.00100487064843151	0.0
18	72917147	C	A	18	75205192	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	1.71355608273615E-4	0.032
18	72917147	C	G	18	75205192	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	1.73156701739785E-4	0.016
18	72917147	C	T	18	75205192	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	1.71355608273615E-4	0.016
18	72917148	C	A	18	75205193	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	8.86406056402893E-5	0.106
18	72917148	C	G	18	75205193	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	8.86406056402893E-5	0.104
18	72917148	C	T	18	75205193	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	8.06912696286989E-5	0.1
18	72917149	T	A	18	75205194	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	4.54864143880111E-4	0.0
18	72917149	T	C	18	75205194	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	5.68306564525381E-4	0.0
18	72917149	T	G	18	75205194	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	5.68306564525381E-4	0.002
18	72917150	C	A	18	75205195	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.464526461443E-4	0.004
18	72917150	C	G	18	75205195	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.2314908554227E-4	0.002
18	72917150	C	T	18	75205195	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.464526461443E-4	0.002
18	72920308	C	A	18	75208353	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	9.41215694109E-6	0.0
18	72920308	C	G	18	75208353	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	9.41215694109E-6	0.0
18	72920308	C	T	18	75208353	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	1.01559384236425E-5	0.0
18	72920309	T	A	18	75208354	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	5.90357500923351E-4	0.032
18	72920309	T	C	18	75208354	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	5.90357500923351E-4	0.032
18	72920309	T	G	18	75208354	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	5.90357500923351E-4	0.032
18	72920310	G	A	18	75208355	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.31929338280547E-5	0.0
18	72920310	G	C	18	75208355	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.07620641825897E-5	0.0
18	72920310	G	T	18	75208355	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.07620641825897E-5	0.0
18	72920311	C	A	18	75208356	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	2.25107246889225E-4	0.044
18	72920311	C	G	18	75208356	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	2.25107246889225E-4	0.032
18	72920311	C	T	18	75208356	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.47671326462734E-4	0.024
18	72920312	C	A	18	75208357	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.03736096199351E-5	0.0
18	72920312	C	G	18	75208357	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.03736096199351E-5	0.0
18	72920312	C	T	18	75208357	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.27737839436969E-5	0.0
18	72920313	A	C	18	75208358	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.82272324727892E-4	0.03
18	72920313	A	G	18	75208358	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.82272324727892E-4	0.03
18	72920313	A	T	18	75208358	n	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	3.82272324727892E-4	0.03
18	72920314	A	C	18	75208359	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	5.7106675465155E-5	0.0
18	72920314	A	G	18	75208359	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	5.7106675465155E-5	0.0
18	72920314	A	T	18	75208359	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	9.68632724264029E-5	0.0
18	72920315	C	A	18	75208360	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	6.08692400722682E-5	0.0
18	72920315	C	G	18	75208360	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	6.08692400722682E-5	0.0
18	72920315	C	T	18	75208360	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	6.08692400722682E-5	0.0
18	72920316	C	A	18	75208361	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	3.15267776820636E-5	0.0
18	72920316	C	G	18	75208361	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	3.15267776820636E-5	0.0
18	72920316	C	T	18	75208361	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	3.15267776820636E-5	0.0
18	72920317	T	A	18	75208362	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	1.65602961808381E-4	0.052
18	72920317	T	C	18	75208362	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	1.75335301482887E-4	0.054
18	72920317	T	G	18	75208362	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	1.59905258682134E-4	0.052
18	72920318	G	A	18	75208363	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.02947833830437E-4	0.006
18	72920318	G	C	18	75208363	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	1.4625450712438E-4	0.006
18	72920318	G	T	18	75208363	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	1.47835442023102E-4	0.008
18	72920367	A	C	18	75208412	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.71315760967871E-4	0.056
18	72920367	A	G	18	75208412	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.71315760967871E-4	0.056
18	72920367	A	T	18	75208412	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.71315760967871E-4	0.056
18	72920368	C	A	18	75208413	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.00234954535167801	0.032
18	72920368	C	G	18	75208413	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.00234954535167801	0.024
18	72920368	C	T	18	75208413	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.00234954535167801	0.052
18	72920369	G	A	18	75208414	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.00156303703815206	0.002
18	72920369	G	C	18	75208414	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0013070461347978	0.002
18	72920369	G	T	18	75208414	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.00156303703815206	0.002
18	72920370	T	A	18	75208415	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0070691735397151	0.032
18	72920370	T	C	18	75208415	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0070691735397151	0.034
18	72920370	T	G	18	75208415	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0070691735397151	0.034
18	72920371	T	A	18	75208416	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0604767327262834	0.388
18	72920371	T	C	18	75208416	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0671098024063822	0.344
18	72920371	T	G	18	75208416	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0604767327262834	0.346
18	72920372	T	A	18	75208417	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	1.63757443433106E-5	0.036
18	72920372	T	C	18	75208417	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	1.63757443433106E-5	0.032
18	72920372	T	G	18	75208417	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	1.63757443433106E-5	0.032
18	72920373	A	C	18	75208418	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.0173493336427258	0.036
18	72920373	A	G	18	75208418	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.0173493336427258	0.034
18	72920373	A	T	18	75208418	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.0207672217962215	0.136
18	72920374	C	A	18	75208419	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.542582390122206	0.74
18	72920374	C	G	18	75208419	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.502624535581599	0.664
18	72920374	C	T	18	75208419	n	y	intronic	ZADH2	.	.	splicing	ENSG00000180011	.	.	0.668762154854872	0.732
18	72920375	C	A	18	75208420	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.20622476649175E-4	0.072
18	72920375	C	G	18	75208420	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.20622476649175E-4	0.006
18	72920375	C	T	18	75208420	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	2.20622476649175E-4	0.064
18	72920376	T	A	18	75208421	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.038656176863734	0.354
18	72920376	T	C	18	75208421	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0232939111196247	0.282
18	72920376	T	G	18	75208421	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	0.0232939111196247	0.288
18	72920377	A	C	18	75208422	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	4.70971368683888E-4	0.056
18	72920377	A	G	18	75208422	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	4.70971368683888E-4	0.058
18	72920377	A	T	18	75208422	n	y	intronic	ZADH2	.	.	UTR5	ENSG00000180011	.	.	6.88834173439289E-4	0.038
18	72920797	G	A	18	75208842	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	6.5000187784121E-4	0.02
18	72920797	G	C	18	75208842	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	6.5000187784121E-4	0.02
18	72920797	G	T	18	75208842	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	6.5000187784121E-4	0.02
18	72920798	G	A	18	75208843	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00754914125084351	0.05
18	72920798	G	C	18	75208843	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.013758472924451	0.056
18	72920798	G	T	18	75208843	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.0108377355071339	0.05
18	72920799	G	A	18	75208844	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00869109162926711	0.104
18	72920799	G	C	18	75208844	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00639857417333657	0.054
18	72920799	G	T	18	75208844	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.00869109162926711	0.1
18	72920800	C	A	18	75208845	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.999983352069252	0.982
18	72920800	C	G	18	75208845	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.999911915518103	0.934
18	72920800	C	T	18	75208845	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.999976072286033	0.986
18	72920801	T	A	18	75208846	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.999030930081239	0.904
18	72920801	T	C	18	75208846	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.998006943774684	0.964
18	72920801	T	G	18	75208846	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.996841932223553	0.856
18	72920802	C	A	18	75208847	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.998844961128112	0.79
18	72920802	C	G	18	75208847	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.99620672402424	0.892
18	72920802	C	T	18	75208847	y	y	intronic	ZADH2	.	.	intronic	ENSG00000180011	.	.	0.0246302455040449	0.256
18	72920803	A	C	18	75208848	y	y	splicing	ZADH2(NM_175907:exon2:c.209+2T>G)	.	.	splicing	ENSG00000180011(ENST00000322342:exon2:c.209+2T>G)	.	.	0.999990155693597	0.928
18	72920803	A	G	18	75208848	y	y	splicing	ZADH2(NM_175907:exon2:c.209+2T>C)	.	.	splicing	ENSG00000180011(ENST00000322342:exon2:c.209+2T>C)	.	.	0.999980981844993	0.944
18	72920803	A	T	18	75208848	y	y	splicing	ZADH2(NM_175907:exon2:c.209+2T>A)	.	.	splicing	ENSG00000180011(ENST00000322342:exon2:c.209+2T>A)	.	.	0.999990155693597	0.928
18	72920804	C	A	18	75208849	y	y	splicing	ZADH2(NM_175907:exon2:c.209+1G>T)	.	.	splicing	ENSG00000180011(ENST00000322342:exon2:c.209+1G>T)	.	.	0.999990155693597	0.928
18	72920804	C	G	18	75208849	y	y	splicing	ZADH2(NM_175907:exon2:c.209+1G>C)	.	.	splicing	ENSG00000180011(ENST00000322342:exon2:c.209+1G>C)	.	.	0.999990155693597	0.928
18	72920804	C	T	18	75208849	y	y	splicing	ZADH2(NM_175907:exon2:c.209+1G>A)	.	.	splicing	ENSG00000180011(ENST00000322342:exon2:c.209+1G>A)	.	.	0.999990155693597	0.928
18	72920805	C	A	18	75208850	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon1:c.G209T:p.R70L;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon1:c.G209T:p.R70L;	0.999985870803006	0.992
18	72920805	C	G	18	75208850	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon1:c.G209C:p.R70P;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon1:c.G209C:p.R70P;	0.999994258937717	0.982
18	72920805	C	T	18	75208850	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon1:c.G209A:p.R70Q;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon1:c.G209A:p.R70Q;	0.999974045152377	1.0
18	72920806	G	A	18	75208851	y	y	exonic	ZADH2	stopgain SNV	ZADH2:NM_175907:exon1:c.C208T:p.R70X;	exonic	ENSG00000180011	stopgain SNV	ENSG00000180011:ENST00000322342:exon1:c.C208T:p.R70X;	0.585303275180914	0.81
18	72920806	G	C	18	75208851	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon1:c.C208G:p.R70G;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon1:c.C208G:p.R70G;	0.438455591420921	0.684
18	72920806	G	T	18	75208851	y	y	exonic	ZADH2	synonymous SNV	ZADH2:NM_175907:exon1:c.C208A:p.R70R;	exonic	ENSG00000180011	synonymous SNV	ENSG00000180011:ENST00000322342:exon1:c.C208A:p.R70R;	0.0604767327262834	0.46
18	72920807	G	A	18	75208852	y	y	exonic	ZADH2	synonymous SNV	ZADH2:NM_175907:exon1:c.C207T:p.N69N;	exonic	ENSG00000180011	synonymous SNV	ENSG00000180011:ENST00000322342:exon1:c.C207T:p.N69N;	0.766798226116174	0.382
18	72920807	G	C	18	75208852	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon1:c.C207G:p.N69K;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon1:c.C207G:p.N69K;	0.446915087823977	0.536
18	72920807	G	T	18	75208852	y	y	exonic	ZADH2	nonsynonymous SNV	ZADH2:NM_175907:exon1:c.C207A:p.N69K;	exonic	ENSG00000180011	nonsynonymous SNV	ENSG00000180011:ENST00000322342:exon1:c.C207A:p.N69K;	0.446915087823977	0.534
18	72923196	C	A	18	75211241	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	3.09450785315509E-4	0.048
18	72923196	C	G	18	75211241	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	5.69417669076721E-4	0.07
18	72923196	C	T	18	75211241	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.773389385078287	0.706
18	72923197	A	C	18	75211242	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.898252523727053	0.732
18	72923197	A	G	18	75211242	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.580490135613247	0.57
18	72923197	A	T	18	75211242	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.991261640298359	0.862
18	72923198	T	A	18	75211243	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0134895746373409	0.152
18	72923198	T	C	18	75211243	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0818163909594439	0.422
18	72923198	T	G	18	75211243	y	y	UTR5	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0134895746373409	0.092
18	72923199	G	A	18	75211244	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.999993672935256	0.936
18	72923199	G	C	18	75211244	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.999993672935256	0.936
18	72923199	G	T	18	75211244	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.999993672935256	0.936
18	72923200	T	A	18	75211245	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.999984894634896	0.904
18	72923200	T	C	18	75211245	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.974255663726101	0.582
18	72923200	T	G	18	75211245	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.999984894634896	0.904
18	72923201	A	C	18	75211246	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.999924237894639	0.942
18	72923201	A	G	18	75211246	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.982339701625367	0.878
18	72923201	A	T	18	75211246	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.99996251241427	0.954
18	72923202	T	A	18	75211247	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00994402048422533	0.064
18	72923202	T	C	18	75211247	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0406571695719633	0.202
18	72923202	T	G	18	75211247	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00643253372314542	0.11
18	72923203	G	A	18	75211248	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.99998684734984	1.0
18	72923203	G	C	18	75211248	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.999898436081108	0.976
18	72923203	G	T	18	75211248	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.99998590963286	0.996
18	72923204	T	A	18	75211249	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.995489913147159	0.808
18	72923204	T	C	18	75211249	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.996281976467368	0.886
18	72923204	T	G	18	75211249	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.991709216034885	0.834
18	72923205	A	C	18	75211250	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	8.51994918241475E-4	0.012
18	72923205	A	G	18	75211250	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00122382781000455	0.008
18	72923205	A	T	18	75211250	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00108318715692426	0.05
18	72923206	C	A	18	75211251	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00748100540388325	0.176
18	72923206	C	G	18	75211251	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00989335564906908	0.274
18	72923206	C	T	18	75211251	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00776220155841415	0.146
18	72923869	C	A	18	75211914	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.C38A:p.A13E;	0.00145598400866353	0.018
18	72923869	C	G	18	75211914	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.C38G:p.A13G;	0.00145598400866353	0.02
18	72923869	C	T	18	75211914	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.C38T:p.A13V;	0.0013678098747638	0.016
18	72923870	A	C	18	75211915	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	synonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.A39C:p.A13A;	1.35206718030972E-4	0.0
18	72923870	A	G	18	75211915	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	synonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.A39G:p.A13A;	1.35206718030972E-4	0.0
18	72923870	A	T	18	75211915	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	synonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.A39T:p.A13A;	1.22299654635988E-4	0.0
18	72923871	G	A	18	75211916	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.G40A:p.A14T;	9.32084706474801E-5	0.002
18	72923871	G	C	18	75211916	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.G40C:p.A14P;	1.49718806113016E-4	0.018
18	72923871	G	T	18	75211916	n	y	intronic	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon1:c.G40T:p.A14S;	1.02390817965254E-4	0.0
18	72923872	G	A	18	75211917	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon1:c.40+1G>A)	.	.	0.00123738203438252	0.014
18	72923872	G	C	18	75211917	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon1:c.40+1G>C)	.	.	0.00123738203438252	0.014
18	72923872	G	T	18	75211917	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon1:c.40+1G>T)	.	.	0.00123738203438252	0.014
18	72923873	T	A	18	75211918	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon1:c.40+2T>A)	.	.	0.00544018778535048	0.068
18	72923873	T	C	18	75211918	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon1:c.40+2T>C)	.	.	0.00544018778535048	0.064
18	72923873	T	G	18	75211918	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon1:c.40+2T>G)	.	.	0.00544018778535048	0.062
18	72923874	A	C	18	75211919	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00116674076377048	0.032
18	72923874	A	G	18	75211919	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00116674076377048	0.022
18	72923874	A	T	18	75211919	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00116674076377048	0.018
18	72923875	A	C	18	75211920	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00110797651291257	0.002
18	72923875	A	G	18	75211920	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00110797651291257	0.002
18	72923875	A	T	18	75211920	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00199590941298324	0.004
18	72923876	C	A	18	75211921	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.25165081315677E-5	0.042
18	72923876	C	G	18	75211921	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.25165081315677E-5	0.042
18	72923876	C	T	18	75211921	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.25165081315677E-5	0.042
18	72923877	G	A	18	75211922	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.69884688945688E-4	0.01
18	72923877	G	C	18	75211922	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	2.27163650926202E-4	0.052
18	72923877	G	T	18	75211922	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.69884688945688E-4	0.014
18	72923878	G	A	18	75211923	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.4076558401562E-4	0.008
18	72923878	G	C	18	75211923	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.4076558401562E-4	0.008
18	72923878	G	T	18	75211923	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.4076558401562E-4	0.008
18	72923879	G	A	18	75211924	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.4076558401562E-4	0.008
18	72923879	G	C	18	75211924	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.4076558401562E-4	0.008
18	72923879	G	T	18	75211924	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.4076558401562E-4	0.008
18	72933107	A	C	18	75221152	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0238273648531443	0.048
18	72933107	A	G	18	75221152	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0238273648531443	0.048
18	72933107	A	T	18	75221152	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0284844574534807	0.142
18	72933108	A	C	18	75221153	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.00207652329253757	0.036
18	72933108	A	G	18	75221153	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.00187102223435439	0.03
18	72933108	A	T	18	75221153	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.00287364156278235	0.106
18	72933109	G	A	18	75221154	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0167004328132565	0.036
18	72933109	G	C	18	75221154	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0097837775082716	0.034
18	72933109	G	T	18	75221154	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0097837775082716	0.04
18	72933110	G	A	18	75221155	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.17713428452202	0.43
18	72933110	G	C	18	75221155	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.073866101532437	0.38
18	72933110	G	T	18	75221155	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.118532956776981	0.452
18	72933111	T	A	18	75221156	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.985954147223988	0.858
18	72933111	T	C	18	75221156	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.983542515509249	0.846
18	72933111	T	G	18	75221156	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.983542515509249	0.846
18	72933112	G	A	18	75221157	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0176131729356612	0.03
18	72933112	G	C	18	75221157	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0114247642213476	0.028
18	72933112	G	T	18	75221157	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0114247642213476	0.026
18	72933113	T	A	18	75221158	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00287364156278235	0.118
18	72933113	T	C	18	75221158	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00174534639763159	0.026
18	72933113	T	G	18	75221158	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00187102223435439	0.034
18	72933114	G	A	18	75221159	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	9.27230948637555E-5	0.004
18	72933114	G	C	18	75221159	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	9.27230948637555E-5	0.016
18	72933114	G	T	18	75221159	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	9.27230948637555E-5	0.0
18	72933115	T	A	18	75221160	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.43903814675916E-4	0.0
18	72933115	T	C	18	75221160	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.58079577932931E-4	0.0
18	72933115	T	G	18	75221160	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.58079577932931E-4	0.0
18	72933116	T	A	18	75221161	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	7.89561575852949E-4	0.018
18	72933116	T	C	18	75221161	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00112660670329902	0.022
18	72933116	T	G	18	75221161	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00112660670329902	0.008
18	72933117	C	A	18	75221162	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00131770435580994	0.004
18	72933117	C	G	18	75221162	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00131770435580994	0.004
18	72933117	C	T	18	75221162	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00156186683719117	0.002
18	72956575	A	C	18	75244620	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	4.7586829694842E-5	0.0
18	72956575	A	G	18	75244620	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	4.7586829694842E-5	0.0
18	72956575	A	T	18	75244620	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	4.7586829694842E-5	0.0
18	72956576	T	A	18	75244621	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	1.05918261028706E-4	0.0
18	72956576	T	C	18	75244621	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	6.24453633365032E-5	0.0
18	72956576	T	G	18	75244621	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	6.24453633365032E-5	0.0
18	72956577	G	A	18	75244622	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	7.75002676380762E-5	0.002
18	72956577	G	C	18	75244622	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	1.13324429737708E-4	0.012
18	72956577	G	T	18	75244622	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	7.75002676380762E-5	0.004
18	72956578	G	A	18	75244623	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	2.89358768570465E-4	0.014
18	72956578	G	C	18	75244623	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	1.88711186747635E-4	0.002
18	72956578	G	T	18	75244623	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	2.58261443677931E-4	0.012
18	72956579	T	A	18	75244624	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	1.60346605627585E-4	0.006
18	72956579	T	C	18	75244624	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	1.32453395119965E-4	0.0
18	72956579	T	G	18	75244624	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	1.32453395119965E-4	0.0
18	72956580	G	A	18	75244625	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.40940918270023E-4	0.002
18	72956580	G	C	18	75244625	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	5.25211152755068E-5	0.0
18	72956580	G	T	18	75244625	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	5.25211152755068E-5	0.0
18	72956581	A	C	18	75244626	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.09069125317345E-4	0.008
18	72956581	A	G	18	75244626	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.09069125317345E-4	0.008
18	72956581	A	T	18	75244626	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	7.74088084155096E-5	0.004
18	72956582	G	A	18	75244627	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.5982790009972E-4	0.006
18	72956582	G	C	18	75244627	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	2.33698758487849E-4	0.016
18	72956582	G	T	18	75244627	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	2.33698758487849E-4	0.016
18	72956583	C	A	18	75244628	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	2.33950268484782E-4	0.04
18	72956583	C	G	18	75244628	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.73401366462724E-4	0.002
18	72956583	C	T	18	75244628	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	2.33950268484782E-4	0.002
18	72956584	C	A	18	75244629	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.13324429737708E-4	0.01
18	72956584	C	G	18	75244629	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	9.71088654042677E-5	0.0
18	72956584	C	T	18	75244629	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.13324429737708E-4	0.002
18	72956585	T	A	18	75244630	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.34668166097593E-4	0.004
18	72956585	T	C	18	75244630	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.47934273155616E-4	0.01
18	72956585	T	G	18	75244630	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.47934273155616E-4	0.01
18	72957171	T	A	18	75245216	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	5.07817993701184E-5	0.1
18	72957171	T	C	18	75245216	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	5.07817993701184E-5	0.074
18	72957171	T	G	18	75245216	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	5.07817993701184E-5	0.074
18	72957172	T	A	18	75245217	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.784522596134489	0.756
18	72957172	T	C	18	75245217	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.784522596134489	0.752
18	72957172	T	G	18	75245217	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.784522596134489	0.752
18	72957173	T	A	18	75245218	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0185505806805284	0.228
18	72957173	T	C	18	75245218	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.018848562993765	0.204
18	72957173	T	G	18	75245218	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.018848562993765	0.202
18	72957174	T	A	18	75245219	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0582551925319956	0.34
18	72957174	T	C	18	75245219	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0694432913328012	0.324
18	72957174	T	G	18	75245219	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0694432913328012	0.324
18	72957175	G	A	18	75245220	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0161391101266291	0.038
18	72957175	G	C	18	75245220	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00945269749865717	0.04
18	72957175	G	T	18	75245220	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00945269749865717	0.054
18	72957176	C	A	18	75245221	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.016809246825924	0.038
18	72957176	C	G	18	75245221	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0140010265662432	0.036
18	72957176	C	T	18	75245221	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.016809246825924	0.04
18	72957177	C	A	18	75245222	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00829003674465697	0.024
18	72957177	C	G	18	75245222	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00689508868792027	0.024
18	72957177	C	T	18	75245222	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00829003674465697	0.026
18	72957178	T	A	18	75245223	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0207672217962215	0.136
18	72957178	T	C	18	75245223	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0173493336427258	0.034
18	72957178	T	G	18	75245223	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0173493336427258	0.034
18	72957179	T	A	18	75245224	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.09333326667097E-4	0.058
18	72957179	T	C	18	75245224	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.09333326667097E-4	0.058
18	72957179	T	G	18	75245224	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.09333326667097E-4	0.058
18	72957180	C	A	18	75245225	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.46226529156369E-4	0.004
18	72957180	C	G	18	75245225	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.15928322694241E-4	0.004
18	72957180	C	T	18	75245225	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.46226529156369E-4	0.004
18	72957181	A	C	18	75245226	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.0638310437887336	0.21
18	72957181	A	G	18	75245226	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.0638310437887336	0.21
18	72957181	A	T	18	75245226	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.594810479771519	0.48
18	72957182	G	A	18	75245227	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.0332034636429039	0.248
18	72957182	G	C	18	75245227	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.0249681078020574	0.246
18	72957182	G	T	18	75245227	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	0.0298439215599565	0.242
18	72957183	G	A	18	75245228	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.0128024590054188	0.032
18	72957183	G	C	18	75245228	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.00829003674465697	0.024
18	72957183	G	T	18	75245228	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	0.00829003674465697	0.026
18	72957184	T	A	18	75245229	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	1.20497298200597E-4	0.09
18	72957184	T	C	18	75245229	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	7.3106464855541E-5	0.0
18	72957184	T	G	18	75245229	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	7.3106464855541E-5	0.0
18	72957353	A	C	18	75245398	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	1.16130803851036E-4	0.008
18	72957353	A	G	18	75245398	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	1.16130803851036E-4	0.0
18	72957353	A	T	18	75245398	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	1.63392923722222E-4	0.01
18	72957354	G	A	18	75245399	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	6.22509695417391E-5	0.008
18	72957354	G	C	18	75245399	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	4.31435328279799E-5	0.008
18	72957354	G	T	18	75245399	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	6.22509695417391E-5	0.008
18	72957355	G	A	18	75245400	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	1.41066847823695E-4	0.014
18	72957355	G	C	18	75245400	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	1.50843366713395E-4	0.016
18	72957355	G	T	18	75245400	n	y	intronic	TSHZ1	.	.	UTR5	ENSG00000179981	.	.	2.01340723066347E-4	0.008
18	72957356	G	A	18	75245401	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	1.17564447662592E-4	0.0
18	72957356	G	C	18	75245401	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	1.17564447662592E-4	0.0
18	72957356	G	T	18	75245401	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	1.17564447662592E-4	0.0
18	72957357	T	A	18	75245402	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	5.25211152755068E-5	0.0
18	72957357	T	C	18	75245402	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	9.54583771157E-5	0.002
18	72957357	T	G	18	75245402	n	y	intronic	TSHZ1	.	.	splicing	ENSG00000179981	.	.	9.54583771157E-5	0.0
18	72957358	A	C	18	75245403	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.40940918270023E-4	0.0
18	72957358	A	G	18	75245403	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.40940918270023E-4	0.0
18	72957358	A	T	18	75245403	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.61228075999277E-4	0.002
18	72957359	T	A	18	75245404	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	4.91918072700513E-5	0.004
18	72957359	T	C	18	75245404	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.75289494538373E-5	0.004
18	72957359	T	G	18	75245404	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.75289494538373E-5	0.004
18	72957360	G	A	18	75245405	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	2.61209141265443E-4	0.002
18	72957360	G	C	18	75245405	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.86326884228225E-4	0.004
18	72957360	G	T	18	75245405	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.86326884228225E-4	0.002
18	72957361	T	A	18	75245406	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	6.36567682305367E-5	0.002
18	72957361	T	C	18	75245406	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.75289494538373E-5	0.002
18	72957361	T	G	18	75245406	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.75289494538373E-5	0.002
18	72957362	C	A	18	75245407	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.96837608660434E-4	0.02
18	72957362	C	G	18	75245407	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	2.87809060625718E-4	0.028
18	72957362	C	T	18	75245407	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.96837608660434E-4	0.012
18	72957363	A	C	18	75245408	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.52077729400054E-4	0.006
18	72957363	A	G	18	75245408	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.52077729400054E-4	0.006
18	72957363	A	T	18	75245408	n	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.06549778628959E-4	0.014
18	72997391	T	A	18	75285436	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	2.38367519587474E-4	0.152
18	72997391	T	C	18	75285436	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.24915635358046E-5	0.016
18	72997391	T	G	18	75285436	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	4.62466843848762E-5	0.144
18	72997392	T	A	18	75285437	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0107588718485671	0.24
18	72997392	T	C	18	75285437	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	4.80136514617122E-4	0.05
18	72997392	T	G	18	75285437	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00565209808149508	0.176
18	72997393	T	A	18	75285438	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0188829124944905	0.266
18	72997393	T	C	18	75285438	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	8.35041369732402E-4	0.056
18	72997393	T	G	18	75285438	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00743980866765124	0.184
18	72997394	C	A	18	75285439	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00499179964142169	0.074
18	72997394	C	G	18	75285439	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00135577823058645	0.072
18	72997394	C	T	18	75285439	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00184775561703216	0.114
18	72997395	T	A	18	75285440	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0104404652671595	0.142
18	72997395	T	C	18	75285440	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.82942656577317E-4	0.016
18	72997395	T	G	18	75285440	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	7.45386641945252E-4	0.066
18	72997396	C	A	18	75285441	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	5.7149236801236E-4	0.044
18	72997396	C	G	18	75285441	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.30362383775879E-4	0.044
18	72997396	C	T	18	75285441	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	8.79498605967591E-5	0.0
18	72997397	T	A	18	75285442	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00825773539097115	0.126
18	72997397	T	C	18	75285442	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	1.85606283590812E-4	0.016
18	72997397	T	G	18	75285442	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00937323406053317	0.136
18	72997398	C	A	18	75285443	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00687025866089598	0.054
18	72997398	C	G	18	75285443	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.00104820210233295	0.04
18	72997398	C	T	18	75285443	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	7.81991503913068E-5	0.006
18	72997399	C	A	18	75285444	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	8.790099962261E-5	0.11
18	72997399	C	G	18	75285444	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	7.84525989777334E-5	0.064
18	72997399	C	T	18	75285444	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	8.790099962261E-5	0.1
18	72997400	T	A	18	75285445	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.0759605056009013	0.376
18	72997400	T	C	18	75285445	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	3.01100015453164E-4	0.016
18	72997400	T	G	18	75285445	y	y	intronic	TSHZ1	.	.	intronic	ENSG00000179981	.	.	0.996590935505184	0.662
18	72997401	A	C	18	75285446	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon2:c.41-2A>C)	.	.	0.999985532734767	0.936
18	72997401	A	G	18	75285446	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon2:c.41-2A>G)	.	.	0.999985532734767	0.936
18	72997401	A	T	18	75285446	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon2:c.41-2A>T)	.	.	0.999985532734767	0.936
18	72997402	G	A	18	75285447	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon2:c.41-1G>A)	.	.	0.999985532734767	0.936
18	72997402	G	C	18	75285447	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon2:c.41-1G>C)	.	.	0.999985532734767	0.936
18	72997402	G	T	18	75285447	y	y	splicing	TSHZ1	.	.	splicing	ENSG00000179981(ENST00000580243:exon2:c.41-1G>T)	.	.	0.999985532734767	0.936
18	72997403	C	A	18	75285448	y	y	UTR5	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon2:c.C41A:p.A14D;	0.622772489245541	0.676
18	72997403	C	G	18	75285448	y	y	UTR5	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon2:c.C41G:p.A14G;	0.654834819805236	0.576
18	72997403	C	T	18	75285448	y	y	UTR5	TSHZ1	.	.	exonic	ENSG00000179981	nonsynonymous SNV	ENSG00000179981:ENST00000580243:exon2:c.C41T:p.A14V;	0.769663771749628	0.756
18	72997404	T	A	18	75285449	y	y	UTR5	TSHZ1	.	.	exonic	ENSG00000179981	synonymous SNV	ENSG00000179981:ENST00000580243:exon2:c.T42A:p.A14A;	0.262444899810913	0.416
18	72997404	T	C	18	75285449	y	y	UTR5	TSHZ1	.	.	exonic	ENSG00000179981	synonymous SNV	ENSG00000179981:ENST00000580243:exon2:c.T42C:p.A14A;	0.174078841128079	0.35
18	72997404	T	G	18	75285449	y	y	UTR5	TSHZ1	.	.	exonic	ENSG00000179981	synonymous SNV	ENSG00000179981:ENST00000580243:exon2:c.T42G:p.A14A;	0.222117260288515	0.362
18	73119848	A	C	18	75407893	n	y	intergenic	TSHZ1(dist=117943);SMIM21(dist=1979)	.	.	intronic	ENSG00000264116	.	.	6.89210916601576E-5	0.0
18	73119848	A	G	18	75407893	n	y	intergenic	TSHZ1(dist=117943);SMIM21(dist=1979)	.	.	intronic	ENSG00000264116	.	.	6.89210916601576E-5	0.0
18	73119848	A	T	18	75407893	n	y	intergenic	TSHZ1(dist=117943);SMIM21(dist=1979)	.	.	intronic	ENSG00000264116	.	.	5.7106675465155E-5	0.0
18	73119849	C	A	18	75407894	n	y	intergenic	TSHZ1(dist=117944);SMIM21(dist=1978)	.	.	intronic	ENSG00000264116	.	.	7.68433810549259E-5	0.0
18	73119849	C	G	18	75407894	n	y	intergenic	TSHZ1(dist=117944);SMIM21(dist=1978)	.	.	intronic	ENSG00000264116	.	.	7.68433810549259E-5	0.0
18	73119849	C	T	18	75407894	n	y	intergenic	TSHZ1(dist=117944);SMIM21(dist=1978)	.	.	intronic	ENSG00000264116	.	.	7.68433810549259E-5	0.0
18	73119850	A	C	18	75407895	n	y	intergenic	TSHZ1(dist=117945);SMIM21(dist=1977)	.	.	intronic	ENSG00000264116	.	.	8.81984393052081E-4	0.008
18	73119850	A	G	18	75407895	n	y	intergenic	TSHZ1(dist=117945);SMIM21(dist=1977)	.	.	intronic	ENSG00000264116	.	.	8.81984393052081E-4	0.008
18	73119850	A	T	18	75407895	n	y	intergenic	TSHZ1(dist=117945);SMIM21(dist=1977)	.	.	intronic	ENSG00000264116	.	.	8.81984393052081E-4	0.008
18	73119851	T	A	18	75407896	n	y	intergenic	TSHZ1(dist=117946);SMIM21(dist=1976)	.	.	intronic	ENSG00000264116	.	.	1.44005667185368E-4	0.0
18	73119851	T	C	18	75407896	n	y	intergenic	TSHZ1(dist=117946);SMIM21(dist=1976)	.	.	intronic	ENSG00000264116	.	.	2.05534958721258E-4	0.0
18	73119851	T	G	18	75407896	n	y	intergenic	TSHZ1(dist=117946);SMIM21(dist=1976)	.	.	intronic	ENSG00000264116	.	.	2.05534958721258E-4	0.0
18	73119852	T	A	18	75407897	n	y	intergenic	TSHZ1(dist=117947);SMIM21(dist=1975)	.	.	intronic	ENSG00000264116	.	.	4.45868578116511E-4	0.0
18	73119852	T	C	18	75407897	n	y	intergenic	TSHZ1(dist=117947);SMIM21(dist=1975)	.	.	intronic	ENSG00000264116	.	.	3.35115461238441E-4	0.0
18	73119852	T	G	18	75407897	n	y	intergenic	TSHZ1(dist=117947);SMIM21(dist=1975)	.	.	intronic	ENSG00000264116	.	.	3.35115461238441E-4	0.0
18	73119853	C	A	18	75407898	n	y	intergenic	TSHZ1(dist=117948);SMIM21(dist=1974)	.	.	intronic	ENSG00000264116	.	.	5.80793394726513E-5	0.002
18	73119853	C	G	18	75407898	n	y	intergenic	TSHZ1(dist=117948);SMIM21(dist=1974)	.	.	intronic	ENSG00000264116	.	.	4.04096031973704E-5	0.002
18	73119853	C	T	18	75407898	n	y	intergenic	TSHZ1(dist=117948);SMIM21(dist=1974)	.	.	intronic	ENSG00000264116	.	.	5.80793394726513E-5	0.002
18	73119854	C	A	18	75407899	n	y	intergenic	TSHZ1(dist=117949);SMIM21(dist=1973)	.	.	intronic	ENSG00000264116	.	.	3.39529611572298E-5	0.008
18	73119854	C	G	18	75407899	n	y	intergenic	TSHZ1(dist=117949);SMIM21(dist=1973)	.	.	intronic	ENSG00000264116	.	.	3.39529611572298E-5	0.008
18	73119854	C	T	18	75407899	n	y	intergenic	TSHZ1(dist=117949);SMIM21(dist=1973)	.	.	intronic	ENSG00000264116	.	.	3.39529611572298E-5	0.008
18	73119855	T	A	18	75407900	n	y	intergenic	TSHZ1(dist=117950);SMIM21(dist=1972)	.	.	intronic	ENSG00000264116	.	.	1.45235216632395E-4	0.022
18	73119855	T	C	18	75407900	n	y	intergenic	TSHZ1(dist=117950);SMIM21(dist=1972)	.	.	intronic	ENSG00000264116	.	.	1.45235216632395E-4	0.022
18	73119855	T	G	18	75407900	n	y	intergenic	TSHZ1(dist=117950);SMIM21(dist=1972)	.	.	intronic	ENSG00000264116	.	.	1.45235216632395E-4	0.022
18	73119856	G	A	18	75407901	n	y	intergenic	TSHZ1(dist=117951);SMIM21(dist=1971)	.	.	intronic	ENSG00000264116	.	.	0.00105417959080473	0.016
18	73119856	G	C	18	75407901	n	y	intergenic	TSHZ1(dist=117951);SMIM21(dist=1971)	.	.	intronic	ENSG00000264116	.	.	7.65194560665861E-4	0.018
18	73119856	G	T	18	75407901	n	y	intergenic	TSHZ1(dist=117951);SMIM21(dist=1971)	.	.	intronic	ENSG00000264116	.	.	0.00101794081974911	0.018
18	73119857	C	A	18	75407902	n	y	intergenic	TSHZ1(dist=117952);SMIM21(dist=1970)	.	.	intronic	ENSG00000264116	.	.	1.40702949384805E-4	0.016
18	73119857	C	G	18	75407902	n	y	intergenic	TSHZ1(dist=117952);SMIM21(dist=1970)	.	.	intronic	ENSG00000264116	.	.	6.9767469365404E-5	0.016
18	73119857	C	T	18	75407902	n	y	intergenic	TSHZ1(dist=117952);SMIM21(dist=1970)	.	.	intronic	ENSG00000264116	.	.	1.40702949384805E-4	0.016
18	73119858	A	C	18	75407903	n	y	intergenic	TSHZ1(dist=117953);SMIM21(dist=1969)	.	.	splicing	ENSG00000264116	.	.	0.00199248877438448	0.014
18	73119858	A	G	18	75407903	n	y	intergenic	TSHZ1(dist=117953);SMIM21(dist=1969)	.	.	splicing	ENSG00000264116	.	.	0.00199248877438448	0.014
18	73119858	A	T	18	75407903	n	y	intergenic	TSHZ1(dist=117953);SMIM21(dist=1969)	.	.	splicing	ENSG00000264116	.	.	0.00288554162833209	0.016
18	73119859	G	A	18	75407904	n	y	intergenic	TSHZ1(dist=117954);SMIM21(dist=1968)	.	.	splicing	ENSG00000264116	.	.	1.05242181345162E-4	0.098
18	73119859	G	C	18	75407904	n	y	intergenic	TSHZ1(dist=117954);SMIM21(dist=1968)	.	.	splicing	ENSG00000264116	.	.	1.05242181345162E-4	0.134
18	73119859	G	T	18	75407904	n	y	intergenic	TSHZ1(dist=117954);SMIM21(dist=1968)	.	.	splicing	ENSG00000264116	.	.	1.05242181345162E-4	0.1
18	73119860	A	C	18	75407905	n	y	intergenic	TSHZ1(dist=117955);SMIM21(dist=1967)	.	.	UTR5	ENSG00000264116	.	.	5.16682635439002E-5	0.0
18	73119860	A	G	18	75407905	n	y	intergenic	TSHZ1(dist=117955);SMIM21(dist=1967)	.	.	UTR5	ENSG00000264116	.	.	5.16682635439002E-5	0.0
18	73119860	A	T	18	75407905	n	y	intergenic	TSHZ1(dist=117955);SMIM21(dist=1967)	.	.	UTR5	ENSG00000264116	.	.	5.16682635439002E-5	0.0
18	73119861	A	C	18	75407906	n	y	intergenic	TSHZ1(dist=117956);SMIM21(dist=1966)	.	.	UTR5	ENSG00000264116	.	.	3.39529611572298E-5	0.008
18	73119861	A	G	18	75407906	n	y	intergenic	TSHZ1(dist=117956);SMIM21(dist=1966)	.	.	UTR5	ENSG00000264116	.	.	3.39529611572298E-5	0.008
18	73119861	A	T	18	75407906	n	y	intergenic	TSHZ1(dist=117956);SMIM21(dist=1966)	.	.	UTR5	ENSG00000264116	.	.	3.39529611572298E-5	0.008
18	73120026	C	A	18	75408071	n	y	intergenic	TSHZ1(dist=118121);SMIM21(dist=1801)	.	.	exonic	ENSG00000264116	synonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.C75A:p.L25L;	6.35428655471156E-5	0.012
18	73120026	C	G	18	75408071	n	y	intergenic	TSHZ1(dist=118121);SMIM21(dist=1801)	.	.	exonic	ENSG00000264116	synonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.C75G:p.L25L;	8.49702646665041E-5	0.002
18	73120026	C	T	18	75408071	n	y	intergenic	TSHZ1(dist=118121);SMIM21(dist=1801)	.	.	exonic	ENSG00000264116	synonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.C75T:p.L25L;	6.35428655471156E-5	0.002
18	73120027	A	C	18	75408072	n	y	intergenic	TSHZ1(dist=118122);SMIM21(dist=1800)	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.A76C:p.S26R;	1.26872967149703E-4	0.04
18	73120027	A	G	18	75408072	n	y	intergenic	TSHZ1(dist=118122);SMIM21(dist=1800)	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.A76G:p.S26G;	1.26872967149703E-4	0.04
18	73120027	A	T	18	75408072	n	y	intergenic	TSHZ1(dist=118122);SMIM21(dist=1800)	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.A76T:p.S26C;	1.26872967149703E-4	0.04
18	73120028	G	A	18	75408073	n	y	intergenic	TSHZ1(dist=118123);SMIM21(dist=1799)	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.G77A:p.S26N;	7.3525528897954E-5	0.002
18	73120028	G	C	18	75408073	n	y	intergenic	TSHZ1(dist=118123);SMIM21(dist=1799)	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.G77C:p.S26T;	7.3525528897954E-5	0.004
18	73120028	G	T	18	75408073	n	y	intergenic	TSHZ1(dist=118123);SMIM21(dist=1799)	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon2:c.G77T:p.S26I;	7.3525528897954E-5	0.002
18	73120029	G	A	18	75408074	n	y	intergenic	TSHZ1(dist=118124);SMIM21(dist=1798)	.	.	splicing	ENSG00000264116(ENST00000578340:exon2:c.77+1G>A)	.	.	5.15941453541388E-5	0.0
18	73120029	G	C	18	75408074	n	y	intergenic	TSHZ1(dist=118124);SMIM21(dist=1798)	.	.	splicing	ENSG00000264116(ENST00000578340:exon2:c.77+1G>C)	.	.	5.15941453541388E-5	0.002
18	73120029	G	T	18	75408074	n	y	intergenic	TSHZ1(dist=118124);SMIM21(dist=1798)	.	.	splicing	ENSG00000264116(ENST00000578340:exon2:c.77+1G>T)	.	.	5.15941453541388E-5	0.002
18	73120030	T	A	18	75408075	n	y	intergenic	TSHZ1(dist=118125);SMIM21(dist=1797)	.	.	splicing	ENSG00000264116(ENST00000578340:exon2:c.77+2T>A)	.	.	3.07620641825897E-5	0.002
18	73120030	T	C	18	75408075	n	y	intergenic	TSHZ1(dist=118125);SMIM21(dist=1797)	.	.	splicing	ENSG00000264116(ENST00000578340:exon2:c.77+2T>C)	.	.	3.07620641825897E-5	0.002
18	73120030	T	G	18	75408075	n	y	intergenic	TSHZ1(dist=118125);SMIM21(dist=1797)	.	.	splicing	ENSG00000264116(ENST00000578340:exon2:c.77+2T>G)	.	.	3.07620641825897E-5	0.002
18	73120031	T	A	18	75408076	n	y	intergenic	TSHZ1(dist=118126);SMIM21(dist=1796)	.	.	intronic	ENSG00000264116	.	.	7.62500938860321E-5	0.0
18	73120031	T	C	18	75408076	n	y	intergenic	TSHZ1(dist=118126);SMIM21(dist=1796)	.	.	intronic	ENSG00000264116	.	.	6.90866578596279E-5	0.0
18	73120031	T	G	18	75408076	n	y	intergenic	TSHZ1(dist=118126);SMIM21(dist=1796)	.	.	intronic	ENSG00000264116	.	.	6.90866578596279E-5	0.0
18	73120032	A	C	18	75408077	n	y	intergenic	TSHZ1(dist=118127);SMIM21(dist=1795)	.	.	intronic	ENSG00000264116	.	.	6.01330567930374E-5	0.0
18	73120032	A	G	18	75408077	n	y	intergenic	TSHZ1(dist=118127);SMIM21(dist=1795)	.	.	intronic	ENSG00000264116	.	.	6.01330567930374E-5	0.0
18	73120032	A	T	18	75408077	n	y	intergenic	TSHZ1(dist=118127);SMIM21(dist=1795)	.	.	intronic	ENSG00000264116	.	.	6.01330567930374E-5	0.0
18	73120033	G	A	18	75408078	n	y	intergenic	TSHZ1(dist=118128);SMIM21(dist=1794)	.	.	intronic	ENSG00000264116	.	.	3.49521429640616E-5	0.0
18	73120033	G	C	18	75408078	n	y	intergenic	TSHZ1(dist=118128);SMIM21(dist=1794)	.	.	intronic	ENSG00000264116	.	.	7.66698910595065E-5	0.0
18	73120033	G	T	18	75408078	n	y	intergenic	TSHZ1(dist=118128);SMIM21(dist=1794)	.	.	intronic	ENSG00000264116	.	.	7.66698910595065E-5	0.004
18	73120034	T	A	18	75408079	n	y	intergenic	TSHZ1(dist=118129);SMIM21(dist=1793)	.	.	intronic	ENSG00000264116	.	.	4.63906183251032E-4	0.002
18	73120034	T	C	18	75408079	n	y	intergenic	TSHZ1(dist=118129);SMIM21(dist=1793)	.	.	intronic	ENSG00000264116	.	.	2.50092720580949E-4	0.002
18	73120034	T	G	18	75408079	n	y	intergenic	TSHZ1(dist=118129);SMIM21(dist=1793)	.	.	intronic	ENSG00000264116	.	.	2.50092720580949E-4	0.006
18	73120035	G	A	18	75408080	n	y	intergenic	TSHZ1(dist=118130);SMIM21(dist=1792)	.	.	intronic	ENSG00000264116	.	.	1.86764315709017E-5	0.0
18	73120035	G	C	18	75408080	n	y	intergenic	TSHZ1(dist=118130);SMIM21(dist=1792)	.	.	intronic	ENSG00000264116	.	.	3.39457982047225E-5	0.0
18	73120035	G	T	18	75408080	n	y	intergenic	TSHZ1(dist=118130);SMIM21(dist=1792)	.	.	intronic	ENSG00000264116	.	.	3.39457982047225E-5	0.0
18	73120036	A	C	18	75408081	n	y	intergenic	TSHZ1(dist=118131);SMIM21(dist=1791)	.	.	intronic	ENSG00000264116	.	.	6.09218706544067E-5	0.004
18	73120036	A	G	18	75408081	n	y	intergenic	TSHZ1(dist=118131);SMIM21(dist=1791)	.	.	intronic	ENSG00000264116	.	.	6.09218706544067E-5	0.004
18	73120036	A	T	18	75408081	n	y	intergenic	TSHZ1(dist=118131);SMIM21(dist=1791)	.	.	intronic	ENSG00000264116	.	.	6.09218706544067E-5	0.004
18	73122863	A	C	18	75410908	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon3:c.T262G:p.F88V;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon2:c.T131G:p.L44R;ENSG00000206026:ENST00000579022:exon3:c.T262G:p.F88V;	1.80494153224869E-4	0.096
18	73122863	A	G	18	75410908	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon3:c.T262C:p.F88L;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon2:c.T131C:p.L44P;ENSG00000206026:ENST00000579022:exon3:c.T262C:p.F88L;	8.49296202794754E-4	0.174
18	73122863	A	T	18	75410908	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon3:c.T262A:p.F88I;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon2:c.T131A:p.L44H;ENSG00000206026:ENST00000579022:exon3:c.T262A:p.F88I;	2.24583427978285E-4	0.054
18	73122864	G	A	18	75410909	y	y	exonic	SMIM21	synonymous SNV	SMIM21:NM_001037331:exon3:c.C261T:p.N87N;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon2:c.C130T:p.L44F;	4.43202376873042E-4	0.032
18	73122864	G	C	18	75410909	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon3:c.C261G:p.N87K;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon2:c.C130G:p.L44V;ENSG00000206026:ENST00000579022:exon3:c.C261G:p.N87K;	0.00149386990972252	0.23
18	73122864	G	T	18	75410909	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon3:c.C261A:p.N87K;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon2:c.C130A:p.L44I;ENSG00000206026:ENST00000579022:exon3:c.C261A:p.N87K;	1.3428248073966E-4	0.002
18	73122865	C	A	18	75410910	y	y	splicing	SMIM21(NM_001037331:exon4:c.261-1G>T)	.	.	splicing	ENSG00000206026(ENST00000579022:exon4:c.261-1G>T;ENST00000382638:exon3:c.130-1G>T)	.	.	0.99668761409669	0.466
18	73122865	C	G	18	75410910	y	y	splicing	SMIM21(NM_001037331:exon4:c.261-1G>C)	.	.	splicing	ENSG00000206026(ENST00000579022:exon4:c.261-1G>C;ENST00000382638:exon3:c.130-1G>C)	.	.	0.99668761409669	0.46
18	73122865	C	T	18	75410910	y	y	splicing	SMIM21(NM_001037331:exon4:c.261-1G>A)	.	.	splicing	ENSG00000206026(ENST00000579022:exon4:c.261-1G>A;ENST00000382638:exon3:c.130-1G>A)	.	.	0.99668761409669	0.47
18	73122866	T	A	18	75410911	y	y	splicing	SMIM21(NM_001037331:exon4:c.261-2A>T)	.	.	splicing	ENSG00000206026(ENST00000579022:exon4:c.261-2A>T;ENST00000382638:exon3:c.130-2A>T)	.	.	0.997684429452707	0.384
18	73122866	T	C	18	75410911	y	y	splicing	SMIM21(NM_001037331:exon4:c.261-2A>G)	.	.	splicing	ENSG00000206026(ENST00000579022:exon4:c.261-2A>G;ENST00000382638:exon3:c.130-2A>G)	.	.	0.997684429452707	0.39
18	73122866	T	G	18	75410911	y	y	splicing	SMIM21(NM_001037331:exon4:c.261-2A>C)	.	.	splicing	ENSG00000206026(ENST00000579022:exon4:c.261-2A>C;ENST00000382638:exon3:c.130-2A>C)	.	.	0.997684429452707	0.39
18	73122867	G	A	18	75410912	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.65518136188556E-4	0.142
18	73122867	G	C	18	75410912	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.98845635198507	0.81
18	73122867	G	T	18	75410912	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.0547898587091629	0.416
18	73122868	C	A	18	75410913	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.65786398410327E-5	0.004
18	73122868	C	G	18	75410913	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.32748537759194E-5	0.014
18	73122868	C	T	18	75410913	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.65786398410327E-5	0.004
18	73122869	A	C	18	75410914	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.00287020628185601	0.09
18	73122869	A	G	18	75410914	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.18340796191232E-5	0.002
18	73122869	A	T	18	75410914	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.991998879699355	0.856
18	73122870	A	C	18	75410915	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.42958565222224E-4	0.074
18	73122870	A	G	18	75410915	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.45003535938104E-4	0.024
18	73122870	A	T	18	75410915	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.27973889350861E-4	0.078
18	73122871	G	A	18	75410916	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	9.44671114011623E-5	0.014
18	73122871	G	C	18	75410916	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	8.53521850070249E-4	0.126
18	73122871	G	T	18	75410916	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	5.71007464579383E-4	0.13
18	73122872	A	C	18	75410917	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.00606717504316752	0.074
18	73122872	A	G	18	75410917	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.86545648299084E-4	0.008
18	73122872	A	T	18	75410917	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.00106110532196147	0.062
18	73122873	G	A	18	75410918	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.40751993985338E-4	0.016
18	73122873	G	C	18	75410918	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.45216027339461E-4	0.056
18	73122873	G	T	18	75410918	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.00287760307327035	0.074
18	73122874	A	C	18	75410919	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.00187528476468677	0.088
18	73122874	A	G	18	75410919	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.00139125100752541	0.056
18	73122874	A	T	18	75410919	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.00562046118258407	0.102
18	73122875	C	A	18	75410920	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	2.98363479083329E-5	0.004
18	73122875	C	G	18	75410920	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.25435875150487E-5	0.0
18	73122875	C	T	18	75410920	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.71684632672276E-4	0.032
18	73122876	A	C	18	75410921	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.0060974215822974	0.208
18	73122876	A	G	18	75410921	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	2.78004203578279E-4	0.018
18	73122876	A	T	18	75410921	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.999678728714782	0.886
18	73129950	T	A	18	75417995	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	6.40950822019664E-5	0.008
18	73129950	T	C	18	75417995	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.09069146030101E-5	0.008
18	73129950	T	G	18	75417995	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.09069146030101E-5	0.008
18	73129951	G	A	18	75417996	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	8.67378569920084E-5	0.012
18	73129951	G	C	18	75417996	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	8.67378569920084E-5	0.012
18	73129951	G	T	18	75417996	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	8.67378569920084E-5	0.012
18	73129952	C	A	18	75417997	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	7.04278140930798E-5	0.004
18	73129952	C	G	18	75417997	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	6.38113264713725E-5	0.004
18	73129952	C	T	18	75417997	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	7.04278140930798E-5	0.004
18	73129953	T	A	18	75417998	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	1.03334260509943E-4	0.0
18	73129953	T	C	18	75417998	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.85062238621114E-5	0.0
18	73129953	T	G	18	75417998	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	5.53437235694015E-5	0.0
18	73129954	T	A	18	75417999	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.23670744562471E-4	0.002
18	73129954	T	C	18	75417999	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	1.74480241737554E-4	0.002
18	73129954	T	G	18	75417999	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	1.74480241737554E-4	0.004
18	73129955	G	A	18	75418000	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	7.91761563972371E-5	0.0
18	73129955	G	C	18	75418000	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	7.91761563972371E-5	0.0
18	73129955	G	T	18	75418000	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	7.91761563972371E-5	0.0
18	73129956	T	A	18	75418001	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.1877777554816E-5	0.0
18	73129956	T	C	18	75418001	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	6.99263190704948E-5	0.0
18	73129956	T	G	18	75418001	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	6.99263190704948E-5	0.0
18	73129957	T	A	18	75418002	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	5.66057879071805E-5	0.004
18	73129957	T	C	18	75418002	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	5.66057879071805E-5	0.004
18	73129957	T	G	18	75418002	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	5.66057879071805E-5	0.004
18	73129958	T	A	18	75418003	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	6.51383879749987E-5	0.0
18	73129958	T	C	18	75418003	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	6.51383879749987E-5	0.0
18	73129958	T	G	18	75418003	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	6.51383879749987E-5	0.0
18	73129959	C	A	18	75418004	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	8.3653407208516E-5	0.008
18	73129959	C	G	18	75418004	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	4.02466957729168E-5	0.006
18	73129959	C	T	18	75418004	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	8.3653407208516E-5	0.008
18	73129960	A	C	18	75418005	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.78-2A>C)	.	.	1.39502748842236E-5	0.016
18	73129960	A	G	18	75418005	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.78-2A>G)	.	.	1.39502748842236E-5	0.016
18	73129960	A	T	18	75418005	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.78-2A>T)	.	.	2.1548255067557E-5	0.002
18	73129961	G	A	18	75418006	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.78-1G>A)	.	.	2.81602517199445E-5	0.03
18	73129961	G	C	18	75418006	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.78-1G>C)	.	.	2.81602517199445E-5	0.03
18	73129961	G	T	18	75418006	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.78-1G>T)	.	.	2.81602517199445E-5	0.03
18	73129962	T	A	18	75418007	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T78A:p.S26R;	6.99263190704948E-5	0.0
18	73129962	T	C	18	75418007	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	synonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T78C:p.S26S;	6.99263190704948E-5	0.004
18	73129962	T	G	18	75418007	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T78G:p.S26R;	6.99263190704948E-5	0.0
18	73129963	T	A	18	75418008	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T79A:p.F27I;	1.05918261028706E-4	0.002
18	73129963	T	C	18	75418008	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T79C:p.F27L;	1.05918261028706E-4	0.0
18	73129963	T	G	18	75418008	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T79G:p.F27V;	8.65778582306901E-5	0.0
18	73130046	C	A	18	75418091	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	synonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.C162A:p.L54L;	5.86075475573093E-5	0.004
18	73130046	C	G	18	75418091	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	synonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.C162G:p.L54L;	5.86075475573093E-5	0.0
18	73130046	C	T	18	75418091	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	synonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.C162T:p.L54L;	5.86075475573093E-5	0.0
18	73130047	A	C	18	75418092	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.A163C:p.I55L;	6.46844991217429E-5	0.0
18	73130047	A	G	18	75418092	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.A163G:p.I55V;	5.86075475573093E-5	0.0
18	73130047	A	T	18	75418092	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.A163T:p.I55F;	1.17564447662592E-4	0.0
18	73130048	T	A	18	75418093	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T164A:p.I55N;	7.27456659313109E-5	0.0
18	73130048	T	C	18	75418093	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T164C:p.I55T;	7.27456659313109E-5	0.006
18	73130048	T	G	18	75418093	n	y	intronic	SMIM21	.	.	exonic	ENSG00000264116	nonsynonymous SNV	ENSG00000264116:ENST00000578340:exon3:c.T164G:p.I55S;	7.27456659313109E-5	0.0
18	73130049	G	A	18	75418094	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.164+1G>A)	.	.	5.12877727083204E-5	0.002
18	73130049	G	C	18	75418094	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.164+1G>C)	.	.	2.82179268262311E-5	0.002
18	73130049	G	T	18	75418094	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.164+1G>T)	.	.	2.82179268262311E-5	0.002
18	73130050	T	A	18	75418095	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.164+2T>A)	.	.	9.15380256934019E-5	0.0
18	73130050	T	C	18	75418095	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.164+2T>C)	.	.	5.03640525457558E-5	0.0
18	73130050	T	G	18	75418095	n	y	intronic	SMIM21	.	.	splicing	ENSG00000264116(ENST00000578340:exon3:c.164+2T>G)	.	.	5.03640525457558E-5	0.0
18	73130051	G	A	18	75418096	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.07620641825897E-5	0.0
18	73130051	G	C	18	75418096	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.07620641825897E-5	0.0
18	73130051	G	T	18	75418096	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.07620641825897E-5	0.0
18	73130052	A	C	18	75418097	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.31929338280547E-5	0.0
18	73130052	A	G	18	75418097	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.31929338280547E-5	0.0
18	73130052	A	T	18	75418097	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	6.89925739660516E-5	0.004
18	73130053	G	A	18	75418098	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.07620641825897E-5	0.002
18	73130053	G	C	18	75418098	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.07620641825897E-5	0.002
18	73130053	G	T	18	75418098	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	3.07620641825897E-5	0.002
18	73130054	T	A	18	75418099	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	7.98747107899964E-5	0.088
18	73130054	T	C	18	75418099	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	7.98747107899964E-5	0.088
18	73130054	T	G	18	75418099	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	7.98747107899964E-5	0.088
18	73130055	G	A	18	75418100	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	4.17825650598919E-5	0.0
18	73130055	G	C	18	75418100	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	4.17825650598919E-5	0.014
18	73130055	G	T	18	75418100	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	4.17825650598919E-5	0.0
18	73130056	G	A	18	75418101	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	9.72760553213487E-5	0.0
18	73130056	G	C	18	75418101	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	9.72760553213487E-5	0.004
18	73130056	G	T	18	75418101	n	y	intronic	SMIM21	.	.	UTR3	ENSG00000206026	.	.	9.72760553213487E-5	0.0
18	73130146	A	C	18	75418191	n	y	intronic	SMIM21	.	.	exonic	ENSG00000206026	stoploss SNV	ENSG00000206026:ENST00000584508:exon3:c.T262G:p.X88E;	7.52881759733747E-5	0.0
18	73130146	A	G	18	75418191	n	y	intronic	SMIM21	.	.	exonic	ENSG00000206026	stoploss SNV	ENSG00000206026:ENST00000584508:exon3:c.T262C:p.X88Q;	7.52881759733747E-5	0.0
18	73130146	A	T	18	75418191	n	y	intronic	SMIM21	.	.	exonic	ENSG00000206026	stoploss SNV	ENSG00000206026:ENST00000584508:exon3:c.T262A:p.X88K;	8.30945796578933E-5	0.0
18	73130147	C	A	18	75418192	n	y	intronic	SMIM21	.	.	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon3:c.G261T:p.K87N;	5.79545962655506E-5	0.014
18	73130147	C	G	18	75418192	n	y	intronic	SMIM21	.	.	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon3:c.G261C:p.K87N;	5.79545962655506E-5	0.014
18	73130147	C	T	18	75418192	n	y	intronic	SMIM21	.	.	exonic	ENSG00000206026	synonymous SNV	ENSG00000206026:ENST00000584508:exon3:c.G261A:p.K87K;	9.35302975084616E-5	0.04
18	73130148	C	A	18	75418193	n	y	intronic	SMIM21	.	.	splicing	ENSG00000206026(ENST00000584508:exon4:c.261-1G>T)	.	.	1.65602961808381E-4	0.016
18	73130148	C	G	18	75418193	n	y	intronic	SMIM21	.	.	splicing	ENSG00000206026(ENST00000584508:exon4:c.261-1G>C)	.	.	2.0691902098385E-4	0.016
18	73130148	C	T	18	75418193	n	y	intronic	SMIM21	.	.	splicing	ENSG00000206026(ENST00000584508:exon4:c.261-1G>A)	.	.	1.65602961808381E-4	0.016
18	73130149	T	A	18	75418194	n	y	intronic	SMIM21	.	.	splicing	ENSG00000206026(ENST00000584508:exon4:c.261-2A>T)	.	.	1.52546990698598E-4	0.008
18	73130149	T	C	18	75418194	n	y	intronic	SMIM21	.	.	splicing	ENSG00000206026(ENST00000584508:exon4:c.261-2A>G)	.	.	1.5091567865525E-4	0.02
18	73130149	T	G	18	75418194	n	y	intronic	SMIM21	.	.	splicing	ENSG00000206026(ENST00000584508:exon4:c.261-2A>C)	.	.	1.5091567865525E-4	0.004
18	73130150	G	A	18	75418195	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.29172098833992E-5	0.006
18	73130150	G	C	18	75418195	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.29172098833992E-5	0.006
18	73130150	G	T	18	75418195	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.29172098833992E-5	0.006
18	73130151	T	A	18	75418196	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.34150215537742E-5	0.0
18	73130151	T	C	18	75418196	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	2.38863475275964E-5	0.0
18	73130151	T	G	18	75418196	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	2.38863475275964E-5	0.0
18	73130152	T	A	18	75418197	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.46447096632079E-5	0.002
18	73130152	T	C	18	75418197	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.46447096632079E-5	0.002
18	73130152	T	G	18	75418197	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.46447096632079E-5	0.002
18	73130153	G	A	18	75418198	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	8.44319604211537E-4	0.048
18	73130153	G	C	18	75418198	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	8.44319604211537E-4	0.034
18	73130153	G	T	18	75418198	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	8.44319604211537E-4	0.038
18	73130154	A	C	18	75418199	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.54404724015672E-5	0.0
18	73130154	A	G	18	75418199	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.54404724015672E-5	0.0
18	73130154	A	T	18	75418199	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.54404724015672E-5	0.0
18	73130155	A	C	18	75418200	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	6.552751562108E-5	0.006
18	73130155	A	G	18	75418200	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	6.552751562108E-5	0.006
18	73130155	A	T	18	75418200	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.90028566392549E-5	0.002
18	73130156	G	A	18	75418201	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.10529984002121E-5	0.006
18	73130156	G	C	18	75418201	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.80465223468383E-5	0.002
18	73130156	G	T	18	75418201	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.10529984002121E-5	0.002
18	73130157	G	A	18	75418202	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	5.14469246767614E-5	0.002
18	73130157	G	C	18	75418202	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	2.16742623748823E-5	0.0
18	73130157	G	T	18	75418202	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	2.16742623748823E-5	0.0
18	73130158	A	C	18	75418203	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.21211619968639E-5	0.0
18	73130158	A	G	18	75418203	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.21211619968639E-5	0.0
18	73130158	A	T	18	75418203	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.21211619968639E-5	0.0
18	73130159	A	C	18	75418204	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.7099992604428E-4	0.004
18	73130159	A	G	18	75418204	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.69171314780076E-4	0.002
18	73130159	A	T	18	75418204	n	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.21364670957993E-4	0.002
18	73130733	T	A	18	75418778	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	3.81905827746698E-5	0.002
18	73130733	T	C	18	75418778	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	8.82624613168803E-5	0.0
18	73130733	T	G	18	75418778	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	7.79851642141777E-5	0.002
18	73130734	T	A	18	75418779	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.77552809199458E-4	0.042
18	73130734	T	C	18	75418779	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	7.16519864486066E-5	0.002
18	73130734	T	G	18	75418779	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.81742443210933E-5	0.004
18	73130735	A	C	18	75418780	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.52031536928654	0.63
18	73130735	A	G	18	75418780	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.0215514816370425	0.36
18	73130735	A	T	18	75418780	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.284607301400142	0.538
18	73130736	C	A	18	75418781	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.999721679837935	0.658
18	73130736	C	G	18	75418781	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.999721679837935	0.68
18	73130736	C	T	18	75418781	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.999471674930607	0.666
18	73130737	C	A	18	75418782	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	2.38854727612662E-5	0.006
18	73130737	C	G	18	75418782	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	1.54633952643309E-5	0.022
18	73130737	C	T	18	75418782	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	4.89901391783687E-5	0.016
18	73130738	T	A	18	75418783	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.650968833512322	0.43
18	73130738	T	C	18	75418783	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.00797322177830236	0.31
18	73130738	T	G	18	75418783	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026;ENSG00000264116	.	.	0.966620090583537	0.51
18	73130739	A	C	18	75418784	y	y	splicing	SMIM21(NM_001037331:exon3:c.260+2T>G)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.260+2T>G;ENST00000584508:exon3:c.260+2T>G)	.	.	0.998618743670968	0.532
18	73130739	A	G	18	75418784	y	y	splicing	SMIM21(NM_001037331:exon3:c.260+2T>C)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.260+2T>C;ENST00000584508:exon3:c.260+2T>C)	.	.	0.290256624095991	0.444
18	73130739	A	T	18	75418784	y	y	splicing	SMIM21(NM_001037331:exon3:c.260+2T>A)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.260+2T>A;ENST00000584508:exon3:c.260+2T>A)	.	.	0.998618743670968	0.526
18	73130740	C	A	18	75418785	y	y	splicing	SMIM21(NM_001037331:exon3:c.260+1G>T)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.260+1G>T;ENST00000584508:exon3:c.260+1G>T)	.	.	0.996570600165179	0.422
18	73130740	C	G	18	75418785	y	y	splicing	SMIM21(NM_001037331:exon3:c.260+1G>C)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.260+1G>C;ENST00000584508:exon3:c.260+1G>C)	.	.	0.996570600165179	0.412
18	73130740	C	T	18	75418785	y	y	splicing	SMIM21(NM_001037331:exon3:c.260+1G>A)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.260+1G>A;ENST00000584508:exon3:c.260+1G>A)	.	.	0.996570600165179	0.428
18	73130741	T	A	18	75418786	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.A260T:p.N87I;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.A260T:p.K87M;ENSG00000206026:ENST00000579022:exon2:c.A260T:p.N87I;	0.00100881482552206	0.114
18	73130741	T	C	18	75418786	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.A260G:p.N87S;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.A260G:p.K87R;ENSG00000206026:ENST00000579022:exon2:c.A260G:p.N87S;	0.00169216033836683	0.238
18	73130741	T	G	18	75418786	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.A260C:p.N87T;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.A260C:p.K87T;ENSG00000206026:ENST00000579022:exon2:c.A260C:p.N87T;	5.28589784523545E-4	0.12
18	73130742	T	A	18	75418787	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.A259T:p.N87Y;	exonic	ENSG00000206026	stopgain SNV	ENSG00000206026:ENST00000584508:exon2:c.A259T:p.K87X;	0.940454811015574	0.746
18	73130742	T	C	18	75418787	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.A259G:p.N87D;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.A259G:p.K87E;ENSG00000206026:ENST00000579022:exon2:c.A259G:p.N87D;	0.947281614482673	0.718
18	73130742	T	G	18	75418787	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.A259C:p.N87H;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.A259C:p.K87Q;ENSG00000206026:ENST00000579022:exon2:c.A259C:p.N87H;	0.630725775460702	0.654
18	73130743	T	A	18	75418788	y	y	exonic	SMIM21	synonymous SNV	SMIM21:NM_001037331:exon2:c.A258T:p.R86R;	exonic	ENSG00000206026	synonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.A258T:p.R86R;ENSG00000206026:ENST00000579022:exon2:c.A258T:p.R86R;	0.0620748438168817	0.374
18	73130743	T	C	18	75418788	y	y	exonic	SMIM21	synonymous SNV	SMIM21:NM_001037331:exon2:c.A258G:p.R86R;	exonic	ENSG00000206026	synonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.A258G:p.R86R;ENSG00000206026:ENST00000579022:exon2:c.A258G:p.R86R;	4.09045799113769E-4	0.014
18	73130743	T	G	18	75418788	y	y	exonic	SMIM21	synonymous SNV	SMIM21:NM_001037331:exon2:c.A258C:p.R86R;	exonic	ENSG00000206026	synonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.A258C:p.R86R;ENSG00000206026:ENST00000579022:exon2:c.A258C:p.R86R;	6.77478309589229E-5	0.006
18	73130870	A	C	18	75418915	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.T131G:p.F44C;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.T131G:p.F44C;ENSG00000206026:ENST00000579022:exon2:c.T131G:p.F44C;	5.71446316506625E-5	0.0
18	73130870	A	G	18	75418915	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.T131C:p.F44S;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.T131C:p.F44S;ENSG00000206026:ENST00000579022:exon2:c.T131C:p.F44S;	5.92220270803879E-5	0.008
18	73130870	A	T	18	75418915	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.T131A:p.F44Y;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.T131A:p.F44Y;ENSG00000206026:ENST00000579022:exon2:c.T131A:p.F44Y;	5.16074075649225E-5	0.0
18	73130871	A	C	18	75418916	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.T130G:p.F44V;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.T130G:p.F44V;ENSG00000206026:ENST00000579022:exon2:c.T130G:p.F44V;	2.96571759614599E-5	0.1
18	73130871	A	G	18	75418916	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.T130C:p.F44L;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.T130C:p.F44L;ENSG00000206026:ENST00000579022:exon2:c.T130C:p.F44L;	1.95733117468244E-4	0.02
18	73130871	A	T	18	75418916	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon2:c.T130A:p.F44I;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000584508:exon2:c.T130A:p.F44I;ENSG00000206026:ENST00000579022:exon2:c.T130A:p.F44I;	4.5961538732233E-5	0.004
18	73130872	C	A	18	75418917	y	y	splicing	SMIM21(NM_001037331:exon3:c.130-1G>T)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.130-1G>T;ENST00000584508:exon3:c.130-1G>T)	.	.	0.99991808331306	0.598
18	73130872	C	G	18	75418917	y	y	splicing	SMIM21(NM_001037331:exon3:c.130-1G>C)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.130-1G>C;ENST00000584508:exon3:c.130-1G>C)	.	.	0.99991808331306	0.598
18	73130872	C	T	18	75418917	y	y	splicing	SMIM21(NM_001037331:exon3:c.130-1G>A)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.130-1G>A;ENST00000584508:exon3:c.130-1G>A)	.	.	0.99991808331306	0.606
18	73130873	T	A	18	75418918	y	y	splicing	SMIM21(NM_001037331:exon3:c.130-2A>T)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.130-2A>T;ENST00000584508:exon3:c.130-2A>T)	.	.	0.999835102606831	0.63
18	73130873	T	C	18	75418918	y	y	splicing	SMIM21(NM_001037331:exon3:c.130-2A>G)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.130-2A>G;ENST00000584508:exon3:c.130-2A>G)	.	.	0.999835102606831	0.624
18	73130873	T	G	18	75418918	y	y	splicing	SMIM21(NM_001037331:exon3:c.130-2A>C)	.	.	splicing	ENSG00000206026(ENST00000579022:exon3:c.130-2A>C;ENST00000584508:exon3:c.130-2A>C)	.	.	0.999835102606831	0.628
18	73130874	G	A	18	75418919	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.41783617054928E-4	0.034
18	73130874	G	C	18	75418919	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	0.974311688967791	0.648
18	73130874	G	T	18	75418919	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	0.0364928463210408	0.258
18	73130875	A	C	18	75418920	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	3.03263756772218E-5	0.004
18	73130875	A	G	18	75418920	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	3.03826956156156E-5	0.002
18	73130875	A	T	18	75418920	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	5.6042269017947E-5	0.006
18	73130876	A	C	18	75418921	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	0.0303575205314221	0.362
18	73130876	A	G	18	75418921	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	0.00929553381610525	0.144
18	73130876	A	T	18	75418921	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	0.0172475607308237	0.362
18	73130877	A	C	18	75418922	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	0.0136416662618494	0.104
18	73130877	A	G	18	75418922	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	4.27670838650105E-4	0.038
18	73130877	A	T	18	75418922	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	0.0118514885515508	0.084
18	73130878	A	C	18	75418923	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.1874479013919E-4	0.002
18	73130878	A	G	18	75418923	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.92133899576826E-5	0.0
18	73130878	A	T	18	75418923	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.33973206463886E-4	0.0
18	73130879	A	C	18	75418924	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.52231136179433E-4	0.044
18	73130879	A	G	18	75418924	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	3.73669318163212E-5	0.004
18	73130879	A	T	18	75418924	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.81723740007582E-4	0.044
18	73130880	G	A	18	75418925	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	5.29128704933276E-5	0.006
18	73130880	G	C	18	75418925	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.56114362550075E-4	0.014
18	73130880	G	T	18	75418925	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.82454893589681E-4	0.03
18	73130881	G	A	18	75418926	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	7.07097102535827E-6	0.0
18	73130881	G	C	18	75418926	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	4.23020749635616E-5	0.004
18	73130881	G	T	18	75418926	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	4.3434666801935E-5	0.014
18	73130882	A	C	18	75418927	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	8.91309929953888E-5	0.056
18	73130882	A	G	18	75418927	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	4.01127533659765E-5	0.02
18	73130882	A	T	18	75418927	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	0.00124576955188959	0.16
18	73130883	A	C	18	75418928	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	2.10900834225466E-4	0.064
18	73130883	A	G	18	75418928	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.17089019782085E-4	0.0
18	73130883	A	T	18	75418928	y	y	intronic	SMIM21	.	.	UTR3	ENSG00000264116	.	.	1.02016939928506E-4	0.068
18	73139382	A	C	18	75427427	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	2.03090879340716E-5	0.004
18	73139382	A	G	18	75427427	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	2.03090879340716E-5	0.002
18	73139382	A	T	18	75427427	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	8.79381479839371E-5	0.004
18	73139383	A	C	18	75427428	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	7.60258478151427E-5	0.006
18	73139383	A	G	18	75427428	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	7.60258478151427E-5	0.006
18	73139383	A	T	18	75427428	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	1.28424823442459E-4	0.006
18	73139384	A	C	18	75427429	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.872587329244563	0.758
18	73139384	A	G	18	75427429	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.929668564204551	0.766
18	73139384	A	T	18	75427429	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.858693204180891	0.66
18	73139385	C	A	18	75427430	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.999876780998635	0.616
18	73139385	C	G	18	75427430	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.999898881256086	0.646
18	73139385	C	T	18	75427430	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.999832163438349	0.71
18	73139386	T	A	18	75427431	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.993591048526692	0.692
18	73139386	T	C	18	75427431	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.980093962883859	0.694
18	73139386	T	G	18	75427431	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.810988629028313	0.578
18	73139387	C	A	18	75427432	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.309111589929764	0.384
18	73139387	C	G	18	75427432	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	0.911238565196335	0.516
18	73139387	C	T	18	75427432	y	y	intronic	SMIM21	.	.	intronic	ENSG00000206026	.	.	1.65047354028333E-5	0.0
18	73139388	A	C	18	75427433	y	y	splicing	SMIM21(NM_001037331:exon2:c.129+2T>G)	.	.	splicing	ENSG00000206026(ENST00000579022:exon2:c.129+2T>G;ENST00000382638:exon2:c.129+2T>G;ENST00000584508:exon2:c.129+2T>G)	.	.	0.996698955433648	0.404
18	73139388	A	G	18	75427433	y	y	splicing	SMIM21(NM_001037331:exon2:c.129+2T>C)	.	.	splicing	ENSG00000206026(ENST00000579022:exon2:c.129+2T>C;ENST00000382638:exon2:c.129+2T>C;ENST00000584508:exon2:c.129+2T>C)	.	.	0.986363365798931	0.464
18	73139388	A	T	18	75427433	y	y	splicing	SMIM21(NM_001037331:exon2:c.129+2T>A)	.	.	splicing	ENSG00000206026(ENST00000579022:exon2:c.129+2T>A;ENST00000382638:exon2:c.129+2T>A;ENST00000584508:exon2:c.129+2T>A)	.	.	0.996698955433648	0.41
18	73139389	C	A	18	75427434	y	y	splicing	SMIM21(NM_001037331:exon2:c.129+1G>T)	.	.	splicing	ENSG00000206026(ENST00000579022:exon2:c.129+1G>T;ENST00000382638:exon2:c.129+1G>T;ENST00000584508:exon2:c.129+1G>T)	.	.	0.989566926051745	0.336
18	73139389	C	G	18	75427434	y	y	splicing	SMIM21(NM_001037331:exon2:c.129+1G>C)	.	.	splicing	ENSG00000206026(ENST00000579022:exon2:c.129+1G>C;ENST00000382638:exon2:c.129+1G>C;ENST00000584508:exon2:c.129+1G>C)	.	.	0.989566926051745	0.296
18	73139389	C	T	18	75427434	y	y	splicing	SMIM21(NM_001037331:exon2:c.129+1G>A)	.	.	splicing	ENSG00000206026(ENST00000579022:exon2:c.129+1G>A;ENST00000382638:exon2:c.129+1G>A;ENST00000584508:exon2:c.129+1G>A)	.	.	0.989566926051745	0.344
18	73139390	T	A	18	75427435	y	y	exonic	SMIM21	synonymous SNV	SMIM21:NM_001037331:exon1:c.A129T:p.T43T;	exonic	ENSG00000206026	synonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.A129T:p.T43T;ENSG00000206026:ENST00000584508:exon1:c.A129T:p.T43T;ENSG00000206026:ENST00000579022:exon1:c.A129T:p.T43T;	8.25749995394332E-5	0.074
18	73139390	T	C	18	75427435	y	y	exonic	SMIM21	synonymous SNV	SMIM21:NM_001037331:exon1:c.A129G:p.T43T;	exonic	ENSG00000206026	synonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.A129G:p.T43T;ENSG00000206026:ENST00000584508:exon1:c.A129G:p.T43T;ENSG00000206026:ENST00000579022:exon1:c.A129G:p.T43T;	0.00111198233229039	0.304
18	73139390	T	G	18	75427435	y	y	exonic	SMIM21	synonymous SNV	SMIM21:NM_001037331:exon1:c.A129C:p.T43T;	exonic	ENSG00000206026	synonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.A129C:p.T43T;ENSG00000206026:ENST00000584508:exon1:c.A129C:p.T43T;ENSG00000206026:ENST00000579022:exon1:c.A129C:p.T43T;	5.75336573500188E-5	0.04
18	73139391	G	A	18	75427436	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon1:c.C128T:p.T43I;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.C128T:p.T43I;ENSG00000206026:ENST00000584508:exon1:c.C128T:p.T43I;ENSG00000206026:ENST00000579022:exon1:c.C128T:p.T43I;	0.00116812139362737	0.168
18	73139391	G	C	18	75427436	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon1:c.C128G:p.T43R;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.C128G:p.T43R;ENSG00000206026:ENST00000584508:exon1:c.C128G:p.T43R;ENSG00000206026:ENST00000579022:exon1:c.C128G:p.T43R;	4.05552874019471E-5	0.018
18	73139391	G	T	18	75427436	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon1:c.C128A:p.T43K;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.C128A:p.T43K;ENSG00000206026:ENST00000584508:exon1:c.C128A:p.T43K;ENSG00000206026:ENST00000579022:exon1:c.C128A:p.T43K;	2.26651393118284E-4	0.174
18	73139392	T	A	18	75427437	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon1:c.A127T:p.T43S;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.A127T:p.T43S;ENSG00000206026:ENST00000584508:exon1:c.A127T:p.T43S;ENSG00000206026:ENST00000579022:exon1:c.A127T:p.T43S;	0.0031526202521833	0.144
18	73139392	T	C	18	75427437	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon1:c.A127G:p.T43A;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.A127G:p.T43A;ENSG00000206026:ENST00000584508:exon1:c.A127G:p.T43A;ENSG00000206026:ENST00000579022:exon1:c.A127G:p.T43A;	3.64425786152064E-4	0.048
18	73139392	T	G	18	75427437	y	y	exonic	SMIM21	nonsynonymous SNV	SMIM21:NM_001037331:exon1:c.A127C:p.T43P;	exonic	ENSG00000206026	nonsynonymous SNV	ENSG00000206026:ENST00000382638:exon1:c.A127C:p.T43P;ENSG00000206026:ENST00000584508:exon1:c.A127C:p.T43P;ENSG00000206026:ENST00000579022:exon1:c.A127C:p.T43P;	3.18748467455423E-5	0.0
18	74534616	C	A	18	76822660	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.C53A:p.S18Y;	2.9188670368541E-4	0.004
18	74534616	C	G	18	76822660	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.C53G:p.S18C;	2.9188670368541E-4	0.006
18	74534616	C	T	18	76822660	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.C53T:p.S18F;	2.9188670368541E-4	0.004
18	74534617	C	A	18	76822661	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.C54A:p.S18S;	9.13516392517987E-4	0.008
18	74534617	C	G	18	76822661	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.C54G:p.S18S;	9.13516392517987E-4	0.008
18	74534617	C	T	18	76822661	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.C54T:p.S18S;	0.00115202640557102	0.008
18	74534618	G	A	18	76822662	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.G55A:p.D19N;	9.23111026084495E-4	0.008
18	74534618	G	C	18	76822662	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.G55C:p.D19H;	2.9188670368541E-4	0.004
18	74534618	G	T	18	76822662	n	y	upstream	LOC100131655	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000320610:exon1:c.G55T:p.D19Y;	1.4076558401562E-4	0.004
18	74534619	G	A	18	76822663	n	y	upstream	LOC100131655	.	.	splicing	ENSG00000130856(ENST00000320610:exon1:c.55+1G>A)	.	.	9.13516392517987E-4	0.012
18	74534619	G	C	18	76822663	n	y	upstream	LOC100131655	.	.	splicing	ENSG00000130856(ENST00000320610:exon1:c.55+1G>C)	.	.	9.23111026084495E-4	0.008
18	74534619	G	T	18	76822663	n	y	upstream	LOC100131655	.	.	splicing	ENSG00000130856(ENST00000320610:exon1:c.55+1G>T)	.	.	9.23111026084495E-4	0.008
18	74534620	T	A	18	76822664	n	y	upstream	LOC100131655	.	.	splicing	ENSG00000130856(ENST00000320610:exon1:c.55+2T>A)	.	.	1.64523997918532E-4	0.016
18	74534620	T	C	18	76822664	n	y	upstream	LOC100131655	.	.	splicing	ENSG00000130856(ENST00000320610:exon1:c.55+2T>C)	.	.	2.34818096303484E-4	0.026
18	74534620	T	G	18	76822664	n	y	upstream	LOC100131655	.	.	splicing	ENSG00000130856(ENST00000320610:exon1:c.55+2T>G)	.	.	2.34818096303484E-4	0.01
18	74534621	A	C	18	76822665	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	3.05146145879425E-4	0.002
18	74534621	A	G	18	76822665	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	3.05146145879425E-4	0.002
18	74534621	A	T	18	76822665	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	2.9259886523543E-4	0.008
18	74534622	A	C	18	76822666	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	8.97988704700614E-5	0.0
18	74534622	A	G	18	76822666	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	8.97988704700614E-5	0.0
18	74534622	A	T	18	76822666	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	1.0448865492497E-4	0.0
18	74534623	G	A	18	76822667	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	6.12869275217467E-5	0.0
18	74534623	G	C	18	76822667	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	6.12869275217467E-5	0.0
18	74534623	G	T	18	76822667	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	6.12869275217467E-5	0.0
18	74534624	G	A	18	76822668	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	2.94615721382208E-5	0.002
18	74534624	G	C	18	76822668	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	2.94615721382208E-5	0.008
18	74534624	G	T	18	76822668	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	2.94615721382208E-5	0.01
18	74534625	C	A	18	76822669	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	9.23111026084495E-4	0.056
18	74534625	C	G	18	76822669	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	9.23111026084495E-4	0.008
18	74534625	C	T	18	76822669	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	9.23111026084495E-4	0.008
18	74534626	C	A	18	76822670	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	9.23111026084495E-4	0.03
18	74534626	C	G	18	76822670	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	9.23111026084495E-4	0.008
18	74534626	C	T	18	76822670	n	y	upstream	LOC100131655	.	.	intronic	ENSG00000130856	.	.	9.23111026084495E-4	0.008
18	74536360	C	A	18	76824404	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon1:c.C47A:p.P16Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.C47A:p.P16Q;ENSG00000130856:ENST00000543926:exon1:c.C47A:p.P16Q;	1.19983389464889E-4	0.012
18	74536360	C	G	18	76824404	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon1:c.C47G:p.P16R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.C47G:p.P16R;ENSG00000130856:ENST00000543926:exon1:c.C47G:p.P16R;	3.27111185528119E-5	0.006
18	74536360	C	T	18	76824404	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon1:c.C47T:p.P16L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.C47T:p.P16L;ENSG00000130856:ENST00000543926:exon1:c.C47T:p.P16L;	0.00241458151583092	0.33
18	74536361	A	C	18	76824405	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon1:c.A48C:p.P16P;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.A48C:p.P16P;ENSG00000130856:ENST00000543926:exon1:c.A48C:p.P16P;	0.0187787128575484	0.322
18	74536361	A	G	18	76824405	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon1:c.A48G:p.P16P;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.A48G:p.P16P;ENSG00000130856:ENST00000543926:exon1:c.A48G:p.P16P;	0.0114385714066089	0.256
18	74536361	A	T	18	76824405	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon1:c.A48T:p.P16P;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.A48T:p.P16P;ENSG00000130856:ENST00000543926:exon1:c.A48T:p.P16P;	0.0835139908138678	0.268
18	74536362	G	A	18	76824406	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon1:c.G49A:p.D17N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.G49A:p.D17N;ENSG00000130856:ENST00000543926:exon1:c.G49A:p.D17N;	0.99957635607091	0.91
18	74536362	G	C	18	76824406	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon1:c.G49C:p.D17H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.G49C:p.D17H;ENSG00000130856:ENST00000543926:exon1:c.G49C:p.D17H;	0.999955404785668	0.95
18	74536362	G	T	18	76824406	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon1:c.G49T:p.D17Y;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon1:c.G49T:p.D17Y;ENSG00000130856:ENST00000543926:exon1:c.G49T:p.D17Y;	0.999032639083396	0.908
18	74536363	G	A	18	76824407	y	y	splicing	ZNF236(NM_007345:exon1:c.49+1G>A)	.	.	splicing	ENSG00000130856(ENST00000253159:exon1:c.49+1G>A;ENST00000543926:exon1:c.49+1G>A)	.	.	0.999927182694724	0.75
18	74536363	G	C	18	76824407	y	y	splicing	ZNF236(NM_007345:exon1:c.49+1G>C)	.	.	splicing	ENSG00000130856(ENST00000253159:exon1:c.49+1G>C;ENST00000543926:exon1:c.49+1G>C)	.	.	0.999927182694724	0.736
18	74536363	G	T	18	76824407	y	y	splicing	ZNF236(NM_007345:exon1:c.49+1G>T)	.	.	splicing	ENSG00000130856(ENST00000253159:exon1:c.49+1G>T;ENST00000543926:exon1:c.49+1G>T)	.	.	0.999927182694724	0.75
18	74536364	T	A	18	76824408	y	y	splicing	ZNF236(NM_007345:exon1:c.49+2T>A)	.	.	splicing	ENSG00000130856(ENST00000253159:exon1:c.49+2T>A;ENST00000543926:exon1:c.49+2T>A)	.	.	0.999940625091759	0.642
18	74536364	T	C	18	76824408	y	y	splicing	ZNF236(NM_007345:exon1:c.49+2T>C)	.	.	splicing	ENSG00000130856(ENST00000253159:exon1:c.49+2T>C;ENST00000543926:exon1:c.49+2T>C)	.	.	0.372137717305137	0.518
18	74536364	T	G	18	76824408	y	y	splicing	ZNF236(NM_007345:exon1:c.49+2T>G)	.	.	splicing	ENSG00000130856(ENST00000253159:exon1:c.49+2T>G;ENST00000543926:exon1:c.49+2T>G)	.	.	0.999940625091759	0.626
18	74536365	A	C	18	76824409	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.608163431192665	0.392
18	74536365	A	G	18	76824409	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00950716718405639	0.268
18	74536365	A	T	18	76824409	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.519573755439728	0.418
18	74536366	T	A	18	76824410	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.19350622137011E-5	0.054
18	74536366	T	C	18	76824410	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.76464367608613E-5	0.0
18	74536366	T	G	18	76824410	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.3001780754605E-5	0.0
18	74536367	G	A	18	76824411	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.266745377520532	0.432
18	74536367	G	C	18	76824411	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.279930213576829	0.458
18	74536367	G	T	18	76824411	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.941848290426317	0.578
18	74536368	C	A	18	76824412	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.05350840801119E-5	0.002
18	74536368	C	G	18	76824412	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.92916155490048E-5	0.014
18	74536368	C	T	18	76824412	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.29568602019923E-5	0.002
18	74536369	A	C	18	76824413	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.87544548170259E-5	0.0
18	74536369	A	G	18	76824413	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.68493855661294E-5	0.0
18	74536369	A	T	18	76824413	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.09961376185257E-5	0.0
18	74536370	G	A	18	76824414	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.45067364484839E-5	0.0
18	74536370	G	C	18	76824414	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.45067364484839E-5	0.0
18	74536370	G	T	18	76824414	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.45067364484839E-5	0.0
18	74561470	G	A	18	76849514	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G38A:p.C13Y;	0.00259989563074488	0.074
18	74561470	G	C	18	76849514	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G38C:p.C13S;	7.62097820573442E-4	0.014
18	74561470	G	T	18	76849514	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G38T:p.C13F;	6.11766585870462E-4	0.02
18	74561471	C	A	18	76849515	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000579322:exon1:c.C39A:p.C13X;	0.229584976918587	0.364
18	74561471	C	G	18	76849515	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.C39G:p.C13W;	0.00370641017989825	0.056
18	74561471	C	T	18	76849515	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.C39T:p.C13C;	9.70929565701675E-5	0.012
18	74561472	A	C	18	76849516	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A40C:p.N14H;	6.7581595182543E-5	0.0
18	74561472	A	G	18	76849516	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A40G:p.N14D;	1.20079388296387E-4	0.016
18	74561472	A	T	18	76849516	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A40T:p.N14Y;	1.32355811380069E-4	0.022
18	74561473	A	C	18	76849517	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A41C:p.N14T;	1.68851152950749E-4	0.018
18	74561473	A	G	18	76849517	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A41G:p.N14S;	0.999644197946938	0.988
18	74561473	A	T	18	76849517	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A41T:p.N14I;	1.68851152950749E-4	0.018
18	74561474	T	A	18	76849518	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T42A:p.N14K;	0.96020112731606	0.762
18	74561474	T	C	18	76849518	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T42C:p.N14N;	0.00187847559171796	0.23
18	74561474	T	G	18	76849518	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T42G:p.N14K;	0.999964825036307	0.968
18	74561475	T	A	18	76849519	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T43A:p.F15I;	0.432613345134712	0.436
18	74561475	T	C	18	76849519	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T43C:p.F15L;	9.08220746294449E-5	0.028
18	74561475	T	G	18	76849519	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T43G:p.F15V;	0.0862577162781599	0.35
18	74561476	T	A	18	76849520	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T44A:p.F15Y;	0.997856046656133	0.942
18	74561476	T	C	18	76849520	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T44C:p.F15S;	0.0043038508058681	0.144
18	74561476	T	G	18	76849520	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T44G:p.F15C;	0.98056758449623	0.87
18	74561477	T	A	18	76849521	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T45A:p.F15L;	0.997816223550905	0.906
18	74561477	T	C	18	76849521	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T45C:p.F15F;	0.0552638127507905	0.214
18	74561477	T	G	18	76849521	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T45G:p.F15L;	0.996307107302307	0.902
18	74561478	A	C	18	76849522	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A46C:p.I16L;	2.19141238748024E-5	0.046
18	74561478	A	G	18	76849522	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A46G:p.I16V;	0.00279808958095971	0.22
18	74561478	A	T	18	76849522	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A46T:p.I16L;	1.81370303709272E-4	0.014
18	74561479	T	A	18	76849523	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T47A:p.I16K;	0.159460499792845	0.484
18	74561479	T	C	18	76849523	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T47C:p.I16T;	3.57196042649348E-4	0.014
18	74561479	T	G	18	76849523	y	n	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T47G:p.I16R;	0.994488924921769	0.724
18	74561480	A	C	18	76849524	y	n	splicing	ZNF236(NM_007345:exon2:c.50-2A>C)	.	.	exonic;splicing	ENSG00000130856;ENSG00000130856(ENST00000320610:exon2:c.56-2A>C;ENST00000253159:exon2:c.50-2A>C;ENST00000543926:exon2:c.50-2A>C)	synonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A48C:p.I16I;	0.999989917668626	0.94
18	74561480	A	G	18	76849524	y	n	splicing	ZNF236(NM_007345:exon2:c.50-2A>G)	.	.	exonic;splicing	ENSG00000130856;ENSG00000130856(ENST00000320610:exon2:c.56-2A>G;ENST00000253159:exon2:c.50-2A>G;ENST00000543926:exon2:c.50-2A>G)	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A48G:p.I16M;	0.999989917668626	0.94
18	74561480	A	T	18	76849524	y	n	splicing	ZNF236(NM_007345:exon2:c.50-2A>T)	.	.	exonic;splicing	ENSG00000130856;ENSG00000130856(ENST00000320610:exon2:c.56-2A>T;ENST00000253159:exon2:c.50-2A>T;ENST00000543926:exon2:c.50-2A>T)	synonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A48T:p.I16I;	0.999989917668626	0.94
18	74561481	G	A	18	76849525	y	n	splicing	ZNF236(NM_007345:exon2:c.50-1G>A)	.	.	exonic;splicing	ENSG00000130856;ENSG00000130856(ENST00000320610:exon2:c.56-1G>A;ENST00000253159:exon2:c.50-1G>A;ENST00000543926:exon2:c.50-1G>A)	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G49A:p.D17N;	0.999986675681007	0.946
18	74561481	G	C	18	76849525	y	n	splicing	ZNF236(NM_007345:exon2:c.50-1G>C)	.	.	exonic;splicing	ENSG00000130856;ENSG00000130856(ENST00000320610:exon2:c.56-1G>C;ENST00000253159:exon2:c.50-1G>C;ENST00000543926:exon2:c.50-1G>C)	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G49C:p.D17H;	0.999986675681007	0.946
18	74561481	G	T	18	76849525	y	n	splicing	ZNF236(NM_007345:exon2:c.50-1G>T)	.	.	exonic;splicing	ENSG00000130856;ENSG00000130856(ENST00000320610:exon2:c.56-1G>T;ENST00000253159:exon2:c.50-1G>T;ENST00000543926:exon2:c.50-1G>T)	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G49T:p.D17Y;	0.999986675681007	0.946
18	74561482	A	C	18	76849526	y	n	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.A50C:p.D17A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A50C:p.D17A;ENSG00000130856:ENST00000253159:exon2:c.A50C:p.D17A;ENSG00000130856:ENST00000543926:exon2:c.A50C:p.D17A;ENSG00000130856:ENST00000320610:exon2:c.A56C:p.D19A;	0.339762052968473	0.462
18	74561482	A	G	18	76849526	y	n	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.A50G:p.D17G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A50G:p.D17G;ENSG00000130856:ENST00000253159:exon2:c.A50G:p.D17G;ENSG00000130856:ENST00000543926:exon2:c.A50G:p.D17G;ENSG00000130856:ENST00000320610:exon2:c.A56G:p.D19G;	0.349003186798973	0.438
18	74561482	A	T	18	76849526	y	n	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.A50T:p.D17V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A50T:p.D17V;ENSG00000130856:ENST00000253159:exon2:c.A50T:p.D17V;ENSG00000130856:ENST00000543926:exon2:c.A50T:p.D17V;ENSG00000130856:ENST00000320610:exon2:c.A56T:p.D19V;	0.339609788571908	0.402
18	74561483	T	A	18	76849527	y	n	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.T51A:p.D17E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T51A:p.D17E;ENSG00000130856:ENST00000253159:exon2:c.T51A:p.D17E;ENSG00000130856:ENST00000543926:exon2:c.T51A:p.D17E;ENSG00000130856:ENST00000320610:exon2:c.T57A:p.D19E;	7.57243317260773E-4	0.306
18	74561483	T	C	18	76849527	y	n	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon2:c.T51C:p.D17D;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T51C:p.D17D;ENSG00000130856:ENST00000253159:exon2:c.T51C:p.D17D;ENSG00000130856:ENST00000543926:exon2:c.T51C:p.D17D;ENSG00000130856:ENST00000320610:exon2:c.T57C:p.D19D;	0.0165439586383159	0.234
18	74561483	T	G	18	76849527	y	n	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.T51G:p.D17E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.T51G:p.D17E;ENSG00000130856:ENST00000253159:exon2:c.T51G:p.D17E;ENSG00000130856:ENST00000543926:exon2:c.T51G:p.D17E;ENSG00000130856:ENST00000320610:exon2:c.T57G:p.D19E;	0.00259643921466805	0.318
18	74561622	A	C	18	76849666	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.A190C:p.K64Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A190C:p.K64Q;ENSG00000130856:ENST00000253159:exon2:c.A190C:p.K64Q;ENSG00000130856:ENST00000543926:exon2:c.A190C:p.K64Q;ENSG00000130856:ENST00000320610:exon2:c.A196C:p.K66Q;	0.693479740202507	0.658
18	74561622	A	G	18	76849666	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.A190G:p.K64E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A190G:p.K64E;ENSG00000130856:ENST00000253159:exon2:c.A190G:p.K64E;ENSG00000130856:ENST00000543926:exon2:c.A190G:p.K64E;ENSG00000130856:ENST00000320610:exon2:c.A196G:p.K66E;	0.324902045218958	0.422
18	74561622	A	T	18	76849666	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon2:c.A190T:p.K64X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000579322:exon1:c.A190T:p.K64X;ENSG00000130856:ENST00000253159:exon2:c.A190T:p.K64X;ENSG00000130856:ENST00000543926:exon2:c.A190T:p.K64X;ENSG00000130856:ENST00000320610:exon2:c.A196T:p.K66X;	0.952624237486695	0.664
18	74561623	A	C	18	76849667	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.A191C:p.K64T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A191C:p.K64T;ENSG00000130856:ENST00000253159:exon2:c.A191C:p.K64T;ENSG00000130856:ENST00000543926:exon2:c.A191C:p.K64T;ENSG00000130856:ENST00000320610:exon2:c.A197C:p.K66T;	0.985713730926238	0.894
18	74561623	A	G	18	76849667	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.A191G:p.K64R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A191G:p.K64R;ENSG00000130856:ENST00000253159:exon2:c.A191G:p.K64R;ENSG00000130856:ENST00000543926:exon2:c.A191G:p.K64R;ENSG00000130856:ENST00000320610:exon2:c.A197G:p.K66R;	0.991364032044308	0.892
18	74561623	A	T	18	76849667	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.A191T:p.K64M;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.A191T:p.K64M;ENSG00000130856:ENST00000253159:exon2:c.A191T:p.K64M;ENSG00000130856:ENST00000543926:exon2:c.A191T:p.K64M;ENSG00000130856:ENST00000320610:exon2:c.A197T:p.K66M;	0.989230932927549	0.852
18	74561624	G	A	18	76849668	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon2:c.G192A:p.K64K;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G192A:p.K64K;ENSG00000130856:ENST00000253159:exon2:c.G192A:p.K64K;ENSG00000130856:ENST00000543926:exon2:c.G192A:p.K64K;ENSG00000130856:ENST00000320610:exon2:c.G198A:p.K66K;	0.999280333916295	0.946
18	74561624	G	C	18	76849668	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.G192C:p.K64N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G192C:p.K64N;ENSG00000130856:ENST00000253159:exon2:c.G192C:p.K64N;ENSG00000130856:ENST00000543926:exon2:c.G192C:p.K64N;ENSG00000130856:ENST00000320610:exon2:c.G198C:p.K66N;	0.999933309387562	0.994
18	74561624	G	T	18	76849668	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon2:c.G192T:p.K64N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon1:c.G192T:p.K64N;ENSG00000130856:ENST00000253159:exon2:c.G192T:p.K64N;ENSG00000130856:ENST00000543926:exon2:c.G192T:p.K64N;ENSG00000130856:ENST00000320610:exon2:c.G198T:p.K66N;	0.999832904172145	0.984
18	74561625	G	A	18	76849669	y	y	splicing	ZNF236(NM_007345:exon2:c.192+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon2:c.198+1G>A;ENST00000253159:exon2:c.192+1G>A;ENST00000543926:exon2:c.192+1G>A;ENST00000579322:exon1:c.192+1G>A)	.	.	0.999986675681007	0.932
18	74561625	G	C	18	76849669	y	y	splicing	ZNF236(NM_007345:exon2:c.192+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon2:c.198+1G>C;ENST00000253159:exon2:c.192+1G>C;ENST00000543926:exon2:c.192+1G>C;ENST00000579322:exon1:c.192+1G>C)	.	.	0.999986675681007	0.93
18	74561625	G	T	18	76849669	y	y	splicing	ZNF236(NM_007345:exon2:c.192+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon2:c.198+1G>T;ENST00000253159:exon2:c.192+1G>T;ENST00000543926:exon2:c.192+1G>T;ENST00000579322:exon1:c.192+1G>T)	.	.	0.999986675681007	0.93
18	74561626	T	A	18	76849670	y	y	splicing	ZNF236(NM_007345:exon2:c.192+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon2:c.198+2T>A;ENST00000253159:exon2:c.192+2T>A;ENST00000543926:exon2:c.192+2T>A;ENST00000579322:exon1:c.192+2T>A)	.	.	0.999988247793601	0.926
18	74561626	T	C	18	76849670	y	y	splicing	ZNF236(NM_007345:exon2:c.192+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon2:c.198+2T>C;ENST00000253159:exon2:c.192+2T>C;ENST00000543926:exon2:c.192+2T>C;ENST00000579322:exon1:c.192+2T>C)	.	.	0.985752408902503	0.59
18	74561626	T	G	18	76849670	y	y	splicing	ZNF236(NM_007345:exon2:c.192+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon2:c.198+2T>G;ENST00000253159:exon2:c.192+2T>G;ENST00000543926:exon2:c.192+2T>G;ENST00000579322:exon1:c.192+2T>G)	.	.	0.999988247793601	0.926
18	74561627	A	C	18	76849671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.988396695383096	0.798
18	74561627	A	G	18	76849671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.437676249762112	0.644
18	74561627	A	T	18	76849671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.932636563882961	0.56
18	74561628	T	A	18	76849672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.15494977811592E-5	0.032
18	74561628	T	C	18	76849672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.00404517755411E-4	0.022
18	74561628	T	G	18	76849672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.96551706973911E-5	0.002
18	74561629	G	A	18	76849673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.945763603646198	0.588
18	74561629	G	C	18	76849673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.967085658751189	0.672
18	74561629	G	T	18	76849673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.935327248601241	0.654
18	74561630	T	A	18	76849674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0129500923459852	0.17
18	74561630	T	C	18	76849674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0141172651566948	0.22
18	74561630	T	G	18	76849674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00479883173939178	0.118
18	74561631	A	C	18	76849675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00116374254486973	0.004
18	74561631	A	G	18	76849675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00116374254486973	0.016
18	74561631	A	T	18	76849675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.05406042111167E-4	0.0
18	74561632	T	A	18	76849676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.90275258901072E-5	0.006
18	74561632	T	C	18	76849676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.93055432666195E-5	0.006
18	74561632	T	G	18	76849676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.90275258901072E-5	0.006
18	74563719	C	A	18	76851763	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0311664379968035	0.152
18	74563719	C	G	18	76851763	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0197724180592594	0.102
18	74563719	C	T	18	76851763	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0210049571895781	0.212
18	74563720	T	A	18	76851764	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999748741565921	0.974
18	74563720	T	C	18	76851764	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.985821659432601	0.556
18	74563720	T	G	18	76851764	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999642799431726	0.946
18	74563721	C	A	18	76851765	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.913714135353142	0.568
18	74563721	C	G	18	76851765	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.838283341453964	0.48
18	74563721	C	T	18	76851765	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.562422098061633	0.53
18	74563722	T	A	18	76851766	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999469620672183	0.936
18	74563722	T	C	18	76851766	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0519213489199718	0.348
18	74563722	T	G	18	76851766	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998839461095837	0.888
18	74563723	C	A	18	76851767	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0918640786500389	0.286
18	74563723	C	G	18	76851767	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.104786646180746	0.222
18	74563723	C	T	18	76851767	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00139343026751917	0.018
18	74563724	C	A	18	76851768	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.473323023451399	0.508
18	74563724	C	G	18	76851768	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.583724506310856	0.61
18	74563724	C	T	18	76851768	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00272457648366261	0.034
18	74563725	A	C	18	76851769	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00125782963012231	0.008
18	74563725	A	G	18	76851769	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00214648741085079	0.028
18	74563725	A	T	18	76851769	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.27719953755949E-4	0.008
18	74563726	A	C	18	76851770	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.21888730395107E-4	0.024
18	74563726	A	G	18	76851770	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999346322957712	0.95
18	74563726	A	T	18	76851770	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.09123250767295E-4	0.092
18	74563727	A	C	18	76851771	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00207435752443086	0.106
18	74563727	A	G	18	76851771	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.995691027970785	0.788
18	74563727	A	T	18	76851771	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0237874302635729	0.056
18	74563728	T	A	18	76851772	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0247706471641805	0.346
18	74563728	T	C	18	76851772	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.22177527862409E-4	0.112
18	74563728	T	G	18	76851772	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.993944602709362	0.728
18	74563729	A	C	18	76851773	y	y	splicing	ZNF236(NM_007345:exon3:c.193-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.199-2A>C;ENST00000253159:exon3:c.193-2A>C;ENST00000543926:exon3:c.193-2A>C;ENST00000579322:exon2:c.193-2A>C)	.	.	0.999988247793601	0.942
18	74563729	A	G	18	76851773	y	y	splicing	ZNF236(NM_007345:exon3:c.193-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.199-2A>G;ENST00000253159:exon3:c.193-2A>G;ENST00000543926:exon3:c.193-2A>G;ENST00000579322:exon2:c.193-2A>G)	.	.	0.999988247793601	0.942
18	74563729	A	T	18	76851773	y	y	splicing	ZNF236(NM_007345:exon3:c.193-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.199-2A>T;ENST00000253159:exon3:c.193-2A>T;ENST00000543926:exon3:c.193-2A>T;ENST00000579322:exon2:c.193-2A>T)	.	.	0.999988247793601	0.942
18	74563730	G	A	18	76851774	y	y	splicing	ZNF236(NM_007345:exon3:c.193-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.199-1G>A;ENST00000253159:exon3:c.193-1G>A;ENST00000543926:exon3:c.193-1G>A;ENST00000579322:exon2:c.193-1G>A)	.	.	0.999986675681007	0.938
18	74563730	G	C	18	76851774	y	y	splicing	ZNF236(NM_007345:exon3:c.193-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.199-1G>C;ENST00000253159:exon3:c.193-1G>C;ENST00000543926:exon3:c.193-1G>C;ENST00000579322:exon2:c.193-1G>C)	.	.	0.999986675681007	0.94
18	74563730	G	T	18	76851774	y	y	splicing	ZNF236(NM_007345:exon3:c.193-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.199-1G>T;ENST00000253159:exon3:c.193-1G>T;ENST00000543926:exon3:c.193-1G>T;ENST00000579322:exon2:c.193-1G>T)	.	.	0.999986675681007	0.94
18	74563731	C	A	18	76851775	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.C193A:p.P65T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.C193A:p.P65T;ENSG00000130856:ENST00000253159:exon3:c.C193A:p.P65T;ENSG00000130856:ENST00000543926:exon3:c.C193A:p.P65T;ENSG00000130856:ENST00000320610:exon3:c.C199A:p.P67T;	0.0100197572695584	0.352
18	74563731	C	G	18	76851775	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.C193G:p.P65A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.C193G:p.P65A;ENSG00000130856:ENST00000253159:exon3:c.C193G:p.P65A;ENSG00000130856:ENST00000543926:exon3:c.C193G:p.P65A;ENSG00000130856:ENST00000320610:exon3:c.C199G:p.P67A;	0.00128695328643769	0.138
18	74563731	C	T	18	76851775	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.C193T:p.P65S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.C193T:p.P65S;ENSG00000130856:ENST00000253159:exon3:c.C193T:p.P65S;ENSG00000130856:ENST00000543926:exon3:c.C193T:p.P65S;ENSG00000130856:ENST00000320610:exon3:c.C199T:p.P67S;	0.0480878866284858	0.35
18	74563732	C	A	18	76851776	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.C194A:p.P65Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.C194A:p.P65Q;ENSG00000130856:ENST00000253159:exon3:c.C194A:p.P65Q;ENSG00000130856:ENST00000543926:exon3:c.C194A:p.P65Q;ENSG00000130856:ENST00000320610:exon3:c.C200A:p.P67Q;	0.988358012734696	0.882
18	74563732	C	G	18	76851776	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.C194G:p.P65R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.C194G:p.P65R;ENSG00000130856:ENST00000253159:exon3:c.C194G:p.P65R;ENSG00000130856:ENST00000543926:exon3:c.C194G:p.P65R;ENSG00000130856:ENST00000320610:exon3:c.C200G:p.P67R;	0.992606898853583	0.83
18	74563732	C	T	18	76851776	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.C194T:p.P65L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.C194T:p.P65L;ENSG00000130856:ENST00000253159:exon3:c.C194T:p.P65L;ENSG00000130856:ENST00000543926:exon3:c.C194T:p.P65L;ENSG00000130856:ENST00000320610:exon3:c.C200T:p.P67L;	0.985522435797868	0.842
18	74563893	G	A	18	76851937	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.G355A:p.E119K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.G355A:p.E119K;ENSG00000130856:ENST00000253159:exon3:c.G355A:p.E119K;ENSG00000130856:ENST00000543926:exon3:c.G355A:p.E119K;ENSG00000130856:ENST00000320610:exon3:c.G361A:p.E121K;	0.869594861824113	0.63
18	74563893	G	C	18	76851937	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.G355C:p.E119Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.G355C:p.E119Q;ENSG00000130856:ENST00000253159:exon3:c.G355C:p.E119Q;ENSG00000130856:ENST00000543926:exon3:c.G355C:p.E119Q;ENSG00000130856:ENST00000320610:exon3:c.G361C:p.E121Q;	0.869594861824113	0.62
18	74563893	G	T	18	76851937	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon3:c.G355T:p.E119X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000579322:exon2:c.G355T:p.E119X;ENSG00000130856:ENST00000253159:exon3:c.G355T:p.E119X;ENSG00000130856:ENST00000543926:exon3:c.G355T:p.E119X;ENSG00000130856:ENST00000320610:exon3:c.G361T:p.E121X;	0.988907584863679	0.666
18	74563894	A	C	18	76851938	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.A356C:p.E119A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.A356C:p.E119A;ENSG00000130856:ENST00000253159:exon3:c.A356C:p.E119A;ENSG00000130856:ENST00000543926:exon3:c.A356C:p.E119A;ENSG00000130856:ENST00000320610:exon3:c.A362C:p.E121A;	0.999862554996604	0.996
18	74563894	A	G	18	76851938	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.A356G:p.E119G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.A356G:p.E119G;ENSG00000130856:ENST00000253159:exon3:c.A356G:p.E119G;ENSG00000130856:ENST00000543926:exon3:c.A356G:p.E119G;ENSG00000130856:ENST00000320610:exon3:c.A362G:p.E121G;	0.999820186408053	0.988
18	74563894	A	T	18	76851938	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.A356T:p.E119V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.A356T:p.E119V;ENSG00000130856:ENST00000253159:exon3:c.A356T:p.E119V;ENSG00000130856:ENST00000543926:exon3:c.A356T:p.E119V;ENSG00000130856:ENST00000320610:exon3:c.A362T:p.E121V;	0.999890471906938	0.982
18	74563895	G	A	18	76851939	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon3:c.G357A:p.E119E;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.G357A:p.E119E;ENSG00000130856:ENST00000253159:exon3:c.G357A:p.E119E;ENSG00000130856:ENST00000543926:exon3:c.G357A:p.E119E;ENSG00000130856:ENST00000320610:exon3:c.G363A:p.E121E;	0.99999217219535	0.976
18	74563895	G	C	18	76851939	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.G357C:p.E119D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.G357C:p.E119D;ENSG00000130856:ENST00000253159:exon3:c.G357C:p.E119D;ENSG00000130856:ENST00000543926:exon3:c.G357C:p.E119D;ENSG00000130856:ENST00000320610:exon3:c.G363C:p.E121D;	0.999997623434064	0.994
18	74563895	G	T	18	76851939	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon3:c.G357T:p.E119D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon2:c.G357T:p.E119D;ENSG00000130856:ENST00000253159:exon3:c.G357T:p.E119D;ENSG00000130856:ENST00000543926:exon3:c.G357T:p.E119D;ENSG00000130856:ENST00000320610:exon3:c.G363T:p.E121D;	0.999990847030859	0.974
18	74563896	G	A	18	76851940	y	y	splicing	ZNF236(NM_007345:exon3:c.357+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.363+1G>A;ENST00000253159:exon3:c.357+1G>A;ENST00000543926:exon3:c.357+1G>A;ENST00000579322:exon2:c.357+1G>A)	.	.	0.999988247793601	0.936
18	74563896	G	C	18	76851940	y	y	splicing	ZNF236(NM_007345:exon3:c.357+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.363+1G>C;ENST00000253159:exon3:c.357+1G>C;ENST00000543926:exon3:c.357+1G>C;ENST00000579322:exon2:c.357+1G>C)	.	.	0.999988247793601	0.936
18	74563896	G	T	18	76851940	y	y	splicing	ZNF236(NM_007345:exon3:c.357+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.363+1G>T;ENST00000253159:exon3:c.357+1G>T;ENST00000543926:exon3:c.357+1G>T;ENST00000579322:exon2:c.357+1G>T)	.	.	0.999988247793601	0.936
18	74563897	T	A	18	76851941	y	y	splicing	ZNF236(NM_007345:exon3:c.357+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.363+2T>A;ENST00000253159:exon3:c.357+2T>A;ENST00000543926:exon3:c.357+2T>A;ENST00000579322:exon2:c.357+2T>A)	.	.	0.999993519952936	0.93
18	74563897	T	C	18	76851941	y	y	splicing	ZNF236(NM_007345:exon3:c.357+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.363+2T>C;ENST00000253159:exon3:c.357+2T>C;ENST00000543926:exon3:c.357+2T>C;ENST00000579322:exon2:c.357+2T>C)	.	.	0.993596150545159	0.606
18	74563897	T	G	18	76851941	y	y	splicing	ZNF236(NM_007345:exon3:c.357+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon3:c.363+2T>G;ENST00000253159:exon3:c.357+2T>G;ENST00000543926:exon3:c.357+2T>G;ENST00000579322:exon2:c.357+2T>G)	.	.	0.999993519952936	0.928
18	74563898	A	C	18	76851942	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999965670619368	0.966
18	74563898	A	G	18	76851942	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999545467405986	0.934
18	74563898	A	T	18	76851942	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999969718942055	0.974
18	74563899	A	C	18	76851943	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.655785337361273	0.42
18	74563899	A	G	18	76851943	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.903309623425444	0.722
18	74563899	A	T	18	76851943	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.818444116591549	0.406
18	74563900	T	A	18	76851944	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.47294553584495E-5	0.006
18	74563900	T	C	18	76851944	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.43600922660543E-5	0.016
18	74563900	T	G	18	76851944	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.20801728756239E-4	0.164
18	74563901	C	A	18	76851945	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.48235855920047E-5	0.01
18	74563901	C	G	18	76851945	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.04697039698574E-4	0.098
18	74563901	C	T	18	76851945	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.18965490386847E-5	0.008
18	74563902	A	C	18	76851946	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.56225116512476E-4	0.0
18	74563902	A	G	18	76851946	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.08056450164776E-4	0.0
18	74563902	A	T	18	76851946	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.3825077492138E-4	0.064
18	74563903	T	A	18	76851947	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.00588407815499E-4	0.0
18	74563903	T	C	18	76851947	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.40635437594781E-4	0.0
18	74563903	T	G	18	76851947	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.40635437594781E-4	0.0
18	74580629	T	A	18	76868673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.19300550392553E-4	0.066
18	74580629	T	C	18	76868673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.72239690405817E-5	0.0
18	74580629	T	G	18	76868673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.09965560856603E-4	0.032
18	74580630	T	A	18	76868674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00240642110784395	0.118
18	74580630	T	C	18	76868674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.21211073423837E-4	0.072
18	74580630	T	G	18	76868674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0018992963854425	0.082
18	74580631	T	A	18	76868675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.22279466519309E-4	0.118
18	74580631	T	C	18	76868675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.90197578869067E-5	0.004
18	74580631	T	G	18	76868675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.90275102941261E-4	0.11
18	74580632	C	A	18	76868676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.88053263641194E-4	0.002
18	74580632	C	G	18	76868676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.10543258121472E-4	0.006
18	74580632	C	T	18	76868676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.45947969460274E-5	0.0
18	74580633	T	A	18	76868677	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.41890023819953E-4	0.018
18	74580633	T	C	18	76868677	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.86557382866142E-5	0.002
18	74580633	T	G	18	76868677	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.45410391266305E-4	0.05
18	74580634	C	A	18	76868678	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.61704366479956E-5	0.044
18	74580634	C	G	18	76868678	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.44926437503225E-5	0.016
18	74580634	C	T	18	76868678	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.90538602491928E-5	0.004
18	74580635	T	A	18	76868679	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00167656500569844	0.098
18	74580635	T	C	18	76868679	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.94857845209048E-5	0.0
18	74580635	T	G	18	76868679	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00215945255483058	0.104
18	74580636	T	A	18	76868680	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0235022966828855	0.204
18	74580636	T	C	18	76868680	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00120816344731324	0.024
18	74580636	T	G	18	76868680	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0358118050171868	0.226
18	74580637	C	A	18	76868681	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.38673771518887E-5	0.0
18	74580637	C	G	18	76868681	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.30241906025537E-5	0.0
18	74580637	C	T	18	76868681	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.70442415539818E-5	0.0
18	74580638	C	A	18	76868682	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.969107088001374	0.696
18	74580638	C	G	18	76868682	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.935051634748735	0.892
18	74580638	C	T	18	76868682	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00416483817619235	0.11
18	74580639	A	C	18	76868683	y	y	splicing	ZNF236(NM_007345:exon4:c.358-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.364-2A>C;ENST00000253159:exon4:c.358-2A>C;ENST00000543926:exon4:c.358-2A>C;ENST00000579322:exon3:c.358-2A>C)	.	.	0.999988247793601	0.926
18	74580639	A	G	18	76868683	y	y	splicing	ZNF236(NM_007345:exon4:c.358-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.364-2A>G;ENST00000253159:exon4:c.358-2A>G;ENST00000543926:exon4:c.358-2A>G;ENST00000579322:exon3:c.358-2A>G)	.	.	0.999988247793601	0.926
18	74580639	A	T	18	76868683	y	y	splicing	ZNF236(NM_007345:exon4:c.358-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.364-2A>T;ENST00000253159:exon4:c.358-2A>T;ENST00000543926:exon4:c.358-2A>T;ENST00000579322:exon3:c.358-2A>T)	.	.	0.999988247793601	0.926
18	74580640	G	A	18	76868684	y	y	splicing	ZNF236(NM_007345:exon4:c.358-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.364-1G>A;ENST00000253159:exon4:c.358-1G>A;ENST00000543926:exon4:c.358-1G>A;ENST00000579322:exon3:c.358-1G>A)	.	.	0.999985532734767	0.936
18	74580640	G	C	18	76868684	y	y	splicing	ZNF236(NM_007345:exon4:c.358-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.364-1G>C;ENST00000253159:exon4:c.358-1G>C;ENST00000543926:exon4:c.358-1G>C;ENST00000579322:exon3:c.358-1G>C)	.	.	0.999985532734767	0.936
18	74580640	G	T	18	76868684	y	y	splicing	ZNF236(NM_007345:exon4:c.358-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.364-1G>T;ENST00000253159:exon4:c.358-1G>T;ENST00000543926:exon4:c.358-1G>T;ENST00000579322:exon3:c.358-1G>T)	.	.	0.999985532734767	0.936
18	74580641	A	C	18	76868685	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.A358C:p.N120H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A358C:p.N120H;ENSG00000130856:ENST00000253159:exon4:c.A358C:p.N120H;ENSG00000130856:ENST00000543926:exon4:c.A358C:p.N120H;ENSG00000130856:ENST00000320610:exon4:c.A364C:p.N122H;	0.667761768672911	0.632
18	74580641	A	G	18	76868685	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.A358G:p.N120D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A358G:p.N120D;ENSG00000130856:ENST00000253159:exon4:c.A358G:p.N120D;ENSG00000130856:ENST00000543926:exon4:c.A358G:p.N120D;ENSG00000130856:ENST00000320610:exon4:c.A364G:p.N122D;	0.533035036890762	0.73
18	74580641	A	T	18	76868685	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.A358T:p.N120Y;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A358T:p.N120Y;ENSG00000130856:ENST00000253159:exon4:c.A358T:p.N120Y;ENSG00000130856:ENST00000543926:exon4:c.A358T:p.N120Y;ENSG00000130856:ENST00000320610:exon4:c.A364T:p.N122Y;	0.516373264812879	0.52
18	74580642	A	C	18	76868686	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.A359C:p.N120T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A359C:p.N120T;ENSG00000130856:ENST00000253159:exon4:c.A359C:p.N120T;ENSG00000130856:ENST00000543926:exon4:c.A359C:p.N120T;ENSG00000130856:ENST00000320610:exon4:c.A365C:p.N122T;	0.00269362926188378	0.066
18	74580642	A	G	18	76868686	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.A359G:p.N120S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A359G:p.N120S;ENSG00000130856:ENST00000253159:exon4:c.A359G:p.N120S;ENSG00000130856:ENST00000543926:exon4:c.A359G:p.N120S;ENSG00000130856:ENST00000320610:exon4:c.A365G:p.N122S;	0.122842077560792	0.24
18	74580642	A	T	18	76868686	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.A359T:p.N120I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A359T:p.N120I;ENSG00000130856:ENST00000253159:exon4:c.A359T:p.N120I;ENSG00000130856:ENST00000543926:exon4:c.A359T:p.N120I;ENSG00000130856:ENST00000320610:exon4:c.A365T:p.N122I;	0.816207940823912	0.804
18	74580817	T	A	18	76868861	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon4:c.T534A:p.I178I;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.T534A:p.I178I;ENSG00000130856:ENST00000253159:exon4:c.T534A:p.I178I;ENSG00000130856:ENST00000543926:exon4:c.T534A:p.I178I;ENSG00000130856:ENST00000320610:exon4:c.T540A:p.I180I;	1.36800844072997E-4	0.012
18	74580817	T	C	18	76868861	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon4:c.T534C:p.I178I;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.T534C:p.I178I;ENSG00000130856:ENST00000253159:exon4:c.T534C:p.I178I;ENSG00000130856:ENST00000543926:exon4:c.T534C:p.I178I;ENSG00000130856:ENST00000320610:exon4:c.T540C:p.I180I;	1.60517554535575E-4	0.074
18	74580817	T	G	18	76868861	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.T534G:p.I178M;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.T534G:p.I178M;ENSG00000130856:ENST00000253159:exon4:c.T534G:p.I178M;ENSG00000130856:ENST00000543926:exon4:c.T534G:p.I178M;ENSG00000130856:ENST00000320610:exon4:c.T540G:p.I180M;	1.71653340596421E-4	0.032
18	74580818	A	C	18	76868862	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon4:c.A535C:p.R179R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A535C:p.R179R;ENSG00000130856:ENST00000253159:exon4:c.A535C:p.R179R;ENSG00000130856:ENST00000543926:exon4:c.A535C:p.R179R;ENSG00000130856:ENST00000320610:exon4:c.A541C:p.R181R;	0.999277163932095	0.944
18	74580818	A	G	18	76868862	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.A535G:p.R179G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A535G:p.R179G;ENSG00000130856:ENST00000253159:exon4:c.A535G:p.R179G;ENSG00000130856:ENST00000543926:exon4:c.A535G:p.R179G;ENSG00000130856:ENST00000320610:exon4:c.A541G:p.R181G;	0.99965180765109	0.956
18	74580818	A	T	18	76868862	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.A535T:p.R179W;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.A535T:p.R179W;ENSG00000130856:ENST00000253159:exon4:c.A535T:p.R179W;ENSG00000130856:ENST00000543926:exon4:c.A535T:p.R179W;ENSG00000130856:ENST00000320610:exon4:c.A541T:p.R181W;	0.999726101497369	0.988
18	74580819	G	A	18	76868863	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.G536A:p.R179K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.G536A:p.R179K;ENSG00000130856:ENST00000253159:exon4:c.G536A:p.R179K;ENSG00000130856:ENST00000543926:exon4:c.G536A:p.R179K;ENSG00000130856:ENST00000320610:exon4:c.G542A:p.R181K;	0.999997614539535	1.0
18	74580819	G	C	18	76868863	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.G536C:p.R179T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.G536C:p.R179T;ENSG00000130856:ENST00000253159:exon4:c.G536C:p.R179T;ENSG00000130856:ENST00000543926:exon4:c.G536C:p.R179T;ENSG00000130856:ENST00000320610:exon4:c.G542C:p.R181T;	0.999997766532969	0.996
18	74580819	G	T	18	76868863	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon4:c.G536T:p.R179M;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon3:c.G536T:p.R179M;ENSG00000130856:ENST00000253159:exon4:c.G536T:p.R179M;ENSG00000130856:ENST00000543926:exon4:c.G536T:p.R179M;ENSG00000130856:ENST00000320610:exon4:c.G542T:p.R181M;	0.999994987668789	0.99
18	74580820	G	A	18	76868864	y	y	splicing	ZNF236(NM_007345:exon4:c.536+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.542+1G>A;ENST00000253159:exon4:c.536+1G>A;ENST00000543926:exon4:c.536+1G>A;ENST00000579322:exon3:c.536+1G>A)	.	.	0.999986675681007	0.94
18	74580820	G	C	18	76868864	y	y	splicing	ZNF236(NM_007345:exon4:c.536+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.542+1G>C;ENST00000253159:exon4:c.536+1G>C;ENST00000543926:exon4:c.536+1G>C;ENST00000579322:exon3:c.536+1G>C)	.	.	0.999986675681007	0.94
18	74580820	G	T	18	76868864	y	y	splicing	ZNF236(NM_007345:exon4:c.536+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.542+1G>T;ENST00000253159:exon4:c.536+1G>T;ENST00000543926:exon4:c.536+1G>T;ENST00000579322:exon3:c.536+1G>T)	.	.	0.999986675681007	0.94
18	74580821	T	A	18	76868865	y	y	splicing	ZNF236(NM_007345:exon4:c.536+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.542+2T>A;ENST00000253159:exon4:c.536+2T>A;ENST00000543926:exon4:c.536+2T>A;ENST00000579322:exon3:c.536+2T>A)	.	.	0.999989917668626	0.928
18	74580821	T	C	18	76868865	y	y	splicing	ZNF236(NM_007345:exon4:c.536+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.542+2T>C;ENST00000253159:exon4:c.536+2T>C;ENST00000543926:exon4:c.536+2T>C;ENST00000579322:exon3:c.536+2T>C)	.	.	0.994942110059878	0.612
18	74580821	T	G	18	76868865	y	y	splicing	ZNF236(NM_007345:exon4:c.536+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon4:c.542+2T>G;ENST00000253159:exon4:c.536+2T>G;ENST00000543926:exon4:c.536+2T>G;ENST00000579322:exon3:c.536+2T>G)	.	.	0.999989917668626	0.928
18	74580822	A	C	18	76868866	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999805850527872	0.858
18	74580822	A	G	18	76868866	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.986332226466529	0.608
18	74580822	A	T	18	76868866	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999861487270858	0.858
18	74580823	T	A	18	76868867	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.32874253052443E-5	0.03
18	74580823	T	C	18	76868867	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.42513842174336E-5	0.004
18	74580823	T	G	18	76868867	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.18785997236375E-4	0.002
18	74580824	G	A	18	76868868	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99974955732714	0.992
18	74580824	G	C	18	76868868	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999594220335781	0.996
18	74580824	G	T	18	76868868	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999545924480168	0.878
18	74580825	A	C	18	76868869	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.83259901205125E-4	0.064
18	74580825	A	G	18	76868869	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.44150683481639E-5	0.0
18	74580825	A	T	18	76868869	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.31344866601287E-5	0.01
18	74580826	G	A	18	76868870	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.64565939418366E-4	0.004
18	74580826	G	C	18	76868870	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.12949697115641E-4	0.004
18	74580826	G	T	18	76868870	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.05001673299118E-5	0.0
18	74580827	T	A	18	76868871	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.10556476333779E-4	0.018
18	74580827	T	C	18	76868871	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.43885136653866E-5	0.0
18	74580827	T	G	18	76868871	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.28653501000055E-4	0.0
18	74583645	T	A	18	76871689	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0129762761377837	0.336
18	74583645	T	C	18	76871689	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.07984732710598E-4	0.064
18	74583645	T	G	18	76871689	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0011332408052463	0.192
18	74583646	T	A	18	76871690	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.245688691339718	0.474
18	74583646	T	C	18	76871690	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00221440437974772	0.132
18	74583646	T	G	18	76871690	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.112828130721749	0.508
18	74583647	A	C	18	76871691	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.79970913285914E-5	0.008
18	74583647	A	G	18	76871691	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.089728164441E-6	0.022
18	74583647	A	T	18	76871691	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.09295572047515E-5	0.026
18	74583648	T	A	18	76871692	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0108587713416085	0.224
18	74583648	T	C	18	76871692	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00121405769180781	0.092
18	74583648	T	G	18	76871692	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999860665289085	0.936
18	74583649	T	A	18	76871693	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00147719978814527	0.14
18	74583649	T	C	18	76871693	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.28880233043109E-6	0.0
18	74583649	T	G	18	76871693	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.94678566536599E-4	0.158
18	74583650	A	C	18	76871694	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.33684777350849E-5	0.0
18	74583650	A	G	18	76871694	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.33285134764126E-6	0.0
18	74583650	A	T	18	76871694	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.33684777350849E-5	0.0
18	74583651	C	A	18	76871695	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00219184688545494	0.174
18	74583651	C	G	18	76871695	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.956856535474928	0.73
18	74583651	C	T	18	76871695	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.60433886793066E-5	0.002
18	74583652	A	C	18	76871696	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.26795031334297E-5	0.004
18	74583652	A	G	18	76871696	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.77109231380472E-5	0.01
18	74583652	A	T	18	76871696	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.26795031334297E-5	0.02
18	74583653	C	A	18	76871697	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.04820798937598E-4	0.016
18	74583653	C	G	18	76871697	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998831516405426	0.91
18	74583653	C	T	18	76871697	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.26107182031379E-4	0.03
18	74583654	T	A	18	76871698	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0852898338250176	0.45
18	74583654	T	C	18	76871698	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.52707025492078E-4	0.034
18	74583654	T	G	18	76871698	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.986958746310532	0.654
18	74583655	A	C	18	76871699	y	y	splicing	ZNF236(NM_007345:exon5:c.537-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.543-2A>C;ENST00000253159:exon5:c.537-2A>C;ENST00000543926:exon5:c.537-2A>C;ENST00000579322:exon4:c.537-2A>C)	.	.	0.999985223844491	0.93
18	74583655	A	G	18	76871699	y	y	splicing	ZNF236(NM_007345:exon5:c.537-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.543-2A>G;ENST00000253159:exon5:c.537-2A>G;ENST00000543926:exon5:c.537-2A>G;ENST00000579322:exon4:c.537-2A>G)	.	.	0.999985223844491	0.93
18	74583655	A	T	18	76871699	y	y	splicing	ZNF236(NM_007345:exon5:c.537-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.543-2A>T;ENST00000253159:exon5:c.537-2A>T;ENST00000543926:exon5:c.537-2A>T;ENST00000579322:exon4:c.537-2A>T)	.	.	0.999988624979899	0.932
18	74583656	G	A	18	76871700	y	y	splicing	ZNF236(NM_007345:exon5:c.537-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.543-1G>A;ENST00000253159:exon5:c.537-1G>A;ENST00000543926:exon5:c.537-1G>A;ENST00000579322:exon4:c.537-1G>A)	.	.	0.999930528371628	0.96
18	74583656	G	C	18	76871700	y	y	splicing	ZNF236(NM_007345:exon5:c.537-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.543-1G>C;ENST00000253159:exon5:c.537-1G>C;ENST00000543926:exon5:c.537-1G>C;ENST00000579322:exon4:c.537-1G>C)	.	.	0.999931168886061	0.964
18	74583656	G	T	18	76871700	y	y	splicing	ZNF236(NM_007345:exon5:c.537-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.543-1G>T;ENST00000253159:exon5:c.537-1G>T;ENST00000543926:exon5:c.537-1G>T;ENST00000579322:exon4:c.537-1G>T)	.	.	0.999931168886061	0.964
18	74583657	G	A	18	76871701	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon5:c.G537A:p.R179R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G537A:p.R179R;ENSG00000130856:ENST00000253159:exon5:c.G537A:p.R179R;ENSG00000130856:ENST00000543926:exon5:c.G537A:p.R179R;ENSG00000130856:ENST00000320610:exon5:c.G543A:p.R181R;	0.964948127026589	0.61
18	74583657	G	C	18	76871701	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.G537C:p.R179S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G537C:p.R179S;ENSG00000130856:ENST00000253159:exon5:c.G537C:p.R179S;ENSG00000130856:ENST00000543926:exon5:c.G537C:p.R179S;ENSG00000130856:ENST00000320610:exon5:c.G543C:p.R181S;	0.999685332402337	0.99
18	74583657	G	T	18	76871701	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.G537T:p.R179S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G537T:p.R179S;ENSG00000130856:ENST00000253159:exon5:c.G537T:p.R179S;ENSG00000130856:ENST00000543926:exon5:c.G537T:p.R179S;ENSG00000130856:ENST00000320610:exon5:c.G543T:p.R181S;	0.999842299487973	0.992
18	74583658	G	A	18	76871702	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.G538A:p.V180I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G538A:p.V180I;ENSG00000130856:ENST00000253159:exon5:c.G538A:p.V180I;ENSG00000130856:ENST00000543926:exon5:c.G538A:p.V180I;ENSG00000130856:ENST00000320610:exon5:c.G544A:p.V182I;	7.78075375134045E-4	0.114
18	74583658	G	C	18	76871702	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.G538C:p.V180L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G538C:p.V180L;ENSG00000130856:ENST00000253159:exon5:c.G538C:p.V180L;ENSG00000130856:ENST00000543926:exon5:c.G538C:p.V180L;ENSG00000130856:ENST00000320610:exon5:c.G544C:p.V182L;	2.75487292860467E-4	0.016
18	74583658	G	T	18	76871702	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.G538T:p.V180L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G538T:p.V180L;ENSG00000130856:ENST00000253159:exon5:c.G538T:p.V180L;ENSG00000130856:ENST00000543926:exon5:c.G538T:p.V180L;ENSG00000130856:ENST00000320610:exon5:c.G544T:p.V182L;	4.80736895332452E-4	0.006
18	74583779	C	A	18	76871823	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.C659A:p.T220K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.C659A:p.T220K;ENSG00000130856:ENST00000253159:exon5:c.C659A:p.T220K;ENSG00000130856:ENST00000543926:exon5:c.C659A:p.T220K;ENSG00000130856:ENST00000320610:exon5:c.C665A:p.T222K;	0.899764213083942	0.81
18	74583779	C	G	18	76871823	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.C659G:p.T220R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.C659G:p.T220R;ENSG00000130856:ENST00000253159:exon5:c.C659G:p.T220R;ENSG00000130856:ENST00000543926:exon5:c.C659G:p.T220R;ENSG00000130856:ENST00000320610:exon5:c.C665G:p.T222R;	0.955727905417945	0.658
18	74583779	C	T	18	76871823	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.C659T:p.T220I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.C659T:p.T220I;ENSG00000130856:ENST00000253159:exon5:c.C659T:p.T220I;ENSG00000130856:ENST00000543926:exon5:c.C659T:p.T220I;ENSG00000130856:ENST00000320610:exon5:c.C665T:p.T222I;	0.9989508535655	0.936
18	74583780	A	C	18	76871824	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon5:c.A660C:p.T220T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.A660C:p.T220T;ENSG00000130856:ENST00000253159:exon5:c.A660C:p.T220T;ENSG00000130856:ENST00000543926:exon5:c.A660C:p.T220T;ENSG00000130856:ENST00000320610:exon5:c.A666C:p.T222T;	0.986613491473289	0.906
18	74583780	A	G	18	76871824	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon5:c.A660G:p.T220T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.A660G:p.T220T;ENSG00000130856:ENST00000253159:exon5:c.A660G:p.T220T;ENSG00000130856:ENST00000543926:exon5:c.A660G:p.T220T;ENSG00000130856:ENST00000320610:exon5:c.A666G:p.T222T;	0.994808043626398	0.826
18	74583780	A	T	18	76871824	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon5:c.A660T:p.T220T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.A660T:p.T220T;ENSG00000130856:ENST00000253159:exon5:c.A660T:p.T220T;ENSG00000130856:ENST00000543926:exon5:c.A660T:p.T220T;ENSG00000130856:ENST00000320610:exon5:c.A666T:p.T222T;	0.995594525990442	0.928
18	74583781	G	A	18	76871825	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.G661A:p.G221S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G661A:p.G221S;ENSG00000130856:ENST00000253159:exon5:c.G661A:p.G221S;ENSG00000130856:ENST00000543926:exon5:c.G661A:p.G221S;ENSG00000130856:ENST00000320610:exon5:c.G667A:p.G223S;	0.999987151820817	1.0
18	74583781	G	C	18	76871825	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.G661C:p.G221R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G661C:p.G221R;ENSG00000130856:ENST00000253159:exon5:c.G661C:p.G221R;ENSG00000130856:ENST00000543926:exon5:c.G661C:p.G221R;ENSG00000130856:ENST00000320610:exon5:c.G667C:p.G223R;	0.999996494771449	1.0
18	74583781	G	T	18	76871825	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon5:c.G661T:p.G221C;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon4:c.G661T:p.G221C;ENSG00000130856:ENST00000253159:exon5:c.G661T:p.G221C;ENSG00000130856:ENST00000543926:exon5:c.G661T:p.G221C;ENSG00000130856:ENST00000320610:exon5:c.G667T:p.G223C;	0.999979923700263	0.998
18	74583782	G	A	18	76871826	y	y	splicing	ZNF236(NM_007345:exon5:c.661+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.667+1G>A;ENST00000253159:exon5:c.661+1G>A;ENST00000543926:exon5:c.661+1G>A;ENST00000579322:exon4:c.661+1G>A)	.	.	0.999990361384395	0.938
18	74583782	G	C	18	76871826	y	y	splicing	ZNF236(NM_007345:exon5:c.661+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.667+1G>C;ENST00000253159:exon5:c.661+1G>C;ENST00000543926:exon5:c.661+1G>C;ENST00000579322:exon4:c.661+1G>C)	.	.	0.999990361384395	0.936
18	74583782	G	T	18	76871826	y	y	splicing	ZNF236(NM_007345:exon5:c.661+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.667+1G>T;ENST00000253159:exon5:c.661+1G>T;ENST00000543926:exon5:c.661+1G>T;ENST00000579322:exon4:c.661+1G>T)	.	.	0.999990361384395	0.938
18	74583783	T	A	18	76871827	y	y	splicing	ZNF236(NM_007345:exon5:c.661+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.667+2T>A;ENST00000253159:exon5:c.661+2T>A;ENST00000543926:exon5:c.661+2T>A;ENST00000579322:exon4:c.661+2T>A)	.	.	0.999988247793601	0.928
18	74583783	T	C	18	76871827	y	y	splicing	ZNF236(NM_007345:exon5:c.661+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.667+2T>C;ENST00000253159:exon5:c.661+2T>C;ENST00000543926:exon5:c.661+2T>C;ENST00000579322:exon4:c.661+2T>C)	.	.	0.98918007292081	0.634
18	74583783	T	G	18	76871827	y	y	splicing	ZNF236(NM_007345:exon5:c.661+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon5:c.667+2T>G;ENST00000253159:exon5:c.661+2T>G;ENST00000543926:exon5:c.661+2T>G;ENST00000579322:exon4:c.661+2T>G)	.	.	0.999988247793601	0.928
18	74583784	A	C	18	76871828	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997424036191982	0.686
18	74583784	A	G	18	76871828	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.9249415928066	0.59
18	74583784	A	T	18	76871828	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997503055835803	0.694
18	74583785	T	A	18	76871829	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.37562464251298E-4	0.086
18	74583785	T	C	18	76871829	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.01650659566072E-4	0.004
18	74583785	T	G	18	76871829	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.37206594884548E-5	0.0
18	74583786	G	A	18	76871830	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.41615969161443	0.544
18	74583786	G	C	18	76871830	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.509429243614178	0.564
18	74583786	G	T	18	76871830	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.334897919321554	0.49
18	74583787	A	C	18	76871831	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.49861508403115E-5	0.018
18	74583787	A	G	18	76871831	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.40173270250616E-6	0.0
18	74583787	A	T	18	76871831	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.6822908548668E-5	0.0
18	74583788	A	C	18	76871832	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.49782718160587E-5	0.0
18	74583788	A	G	18	76871832	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.60610257070665E-5	0.0
18	74583788	A	T	18	76871832	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.0680089989629E-5	0.0
18	74583789	A	C	18	76871833	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.25499309975313E-5	0.002
18	74583789	A	G	18	76871833	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40648534287151E-5	0.0
18	74583789	A	T	18	76871833	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.25499309975313E-5	0.002
18	74587436	C	A	18	76875480	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.09731047273484E-4	0.02
18	74587436	C	G	18	76875480	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.48303853530156E-4	0.016
18	74587436	C	T	18	76875480	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.99968516845839E-5	0.002
18	74587437	T	A	18	76875481	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00410429919792941	0.228
18	74587437	T	C	18	76875481	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0054061635767545	0.064
18	74587437	T	G	18	76875481	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00507456064766855	0.194
18	74587438	C	A	18	76875482	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.36004193021723E-4	0.04
18	74587438	C	G	18	76875482	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00110272983389463	0.122
18	74587438	C	T	18	76875482	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.20189338959448E-4	0.0
18	74587439	C	A	18	76875483	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.38428956311048E-4	0.018
18	74587439	C	G	18	76875483	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.3481965038535E-4	0.022
18	74587439	C	T	18	76875483	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.66388039514265E-5	0.0
18	74587440	C	A	18	76875484	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.82809837320383E-4	0.03
18	74587440	C	G	18	76875484	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.57332936827793E-4	0.028
18	74587440	C	T	18	76875484	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.69581472925765E-4	0.0
18	74587441	A	C	18	76875485	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.57051514085054E-5	0.004
18	74587441	A	G	18	76875485	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.78992142291779E-5	0.002
18	74587441	A	T	18	76875485	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.65384719650273E-5	0.002
18	74587442	C	A	18	76875486	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.78515668537122E-4	0.186
18	74587442	C	G	18	76875486	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999246279783512	0.902
18	74587442	C	T	18	76875486	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.35459100479808E-4	0.0
18	74587443	T	A	18	76875487	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00102293817296565	0.132
18	74587443	T	C	18	76875487	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.32503586741971E-4	0.014
18	74587443	T	G	18	76875487	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.99385468931624E-4	0.088
18	74587444	C	A	18	76875488	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.33165141707236E-6	0.01
18	74587444	C	G	18	76875488	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.38197773239288E-6	0.004
18	74587444	C	T	18	76875488	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.06423874428127E-5	0.018
18	74587445	T	A	18	76875489	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00445241483133282	0.158
18	74587445	T	C	18	76875489	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.34798802853887E-5	0.024
18	74587445	T	G	18	76875489	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.147352420065469	0.584
18	74587446	A	C	18	76875490	y	y	splicing	ZNF236(NM_007345:exon6:c.662-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.668-2A>C;ENST00000253159:exon6:c.662-2A>C;ENST00000543926:exon6:c.662-2A>C;ENST00000579322:exon5:c.662-2A>C)	.	.	0.999969255906173	0.846
18	74587446	A	G	18	76875490	y	y	splicing	ZNF236(NM_007345:exon6:c.662-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.668-2A>G;ENST00000253159:exon6:c.662-2A>G;ENST00000543926:exon6:c.662-2A>G;ENST00000579322:exon5:c.662-2A>G)	.	.	0.999969255906173	0.848
18	74587446	A	T	18	76875490	y	y	splicing	ZNF236(NM_007345:exon6:c.662-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.668-2A>T;ENST00000253159:exon6:c.662-2A>T;ENST00000543926:exon6:c.662-2A>T;ENST00000579322:exon5:c.662-2A>T)	.	.	0.999972155025474	0.874
18	74587447	G	A	18	76875491	y	y	splicing	ZNF236(NM_007345:exon6:c.662-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.668-1G>A;ENST00000253159:exon6:c.662-1G>A;ENST00000543926:exon6:c.662-1G>A;ENST00000579322:exon5:c.662-1G>A)	.	.	0.999949962508874	0.944
18	74587447	G	C	18	76875491	y	y	splicing	ZNF236(NM_007345:exon6:c.662-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.668-1G>C;ENST00000253159:exon6:c.662-1G>C;ENST00000543926:exon6:c.662-1G>C;ENST00000579322:exon5:c.662-1G>C)	.	.	0.999949962508874	0.938
18	74587447	G	T	18	76875491	y	y	splicing	ZNF236(NM_007345:exon6:c.662-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.668-1G>T;ENST00000253159:exon6:c.662-1G>T;ENST00000543926:exon6:c.662-1G>T;ENST00000579322:exon5:c.662-1G>T)	.	.	0.999949962508874	0.908
18	74587448	G	A	18	76875492	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.G662A:p.G221D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.G662A:p.G221D;ENSG00000130856:ENST00000253159:exon6:c.G662A:p.G221D;ENSG00000130856:ENST00000543926:exon6:c.G662A:p.G221D;ENSG00000130856:ENST00000320610:exon6:c.G668A:p.G223D;	0.998675952921581	0.876
18	74587448	G	C	18	76875492	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.G662C:p.G221A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.G662C:p.G221A;ENSG00000130856:ENST00000253159:exon6:c.G662C:p.G221A;ENSG00000130856:ENST00000543926:exon6:c.G662C:p.G221A;ENSG00000130856:ENST00000320610:exon6:c.G668C:p.G223A;	0.999341401681826	0.892
18	74587448	G	T	18	76875492	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.G662T:p.G221V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.G662T:p.G221V;ENSG00000130856:ENST00000253159:exon6:c.G662T:p.G221V;ENSG00000130856:ENST00000543926:exon6:c.G662T:p.G221V;ENSG00000130856:ENST00000320610:exon6:c.G668T:p.G223V;	0.999141207373276	0.924
18	74587449	T	A	18	76875493	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon6:c.T663A:p.G221G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.T663A:p.G221G;ENSG00000130856:ENST00000253159:exon6:c.T663A:p.G221G;ENSG00000130856:ENST00000543926:exon6:c.T663A:p.G221G;ENSG00000130856:ENST00000320610:exon6:c.T669A:p.G223G;	3.69888066813397E-5	0.01
18	74587449	T	C	18	76875493	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon6:c.T663C:p.G221G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.T663C:p.G221G;ENSG00000130856:ENST00000253159:exon6:c.T663C:p.G221G;ENSG00000130856:ENST00000543926:exon6:c.T663C:p.G221G;ENSG00000130856:ENST00000320610:exon6:c.T669C:p.G223G;	3.69888066813397E-5	0.016
18	74587449	T	G	18	76875493	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon6:c.T663G:p.G221G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.T663G:p.G221G;ENSG00000130856:ENST00000253159:exon6:c.T663G:p.G221G;ENSG00000130856:ENST00000543926:exon6:c.T663G:p.G221G;ENSG00000130856:ENST00000320610:exon6:c.T669G:p.G223G;	3.69888066813397E-5	0.01
18	74587618	G	A	18	76875662	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.G832A:p.E278K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.G832A:p.E278K;ENSG00000130856:ENST00000253159:exon6:c.G832A:p.E278K;ENSG00000130856:ENST00000543926:exon6:c.G832A:p.E278K;ENSG00000130856:ENST00000320610:exon6:c.G838A:p.E280K;	0.951786881544117	0.704
18	74587618	G	C	18	76875662	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.G832C:p.E278Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.G832C:p.E278Q;ENSG00000130856:ENST00000253159:exon6:c.G832C:p.E278Q;ENSG00000130856:ENST00000543926:exon6:c.G832C:p.E278Q;ENSG00000130856:ENST00000320610:exon6:c.G838C:p.E280Q;	0.949114543337164	0.682
18	74587618	G	T	18	76875662	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon6:c.G832T:p.E278X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000579322:exon5:c.G832T:p.E278X;ENSG00000130856:ENST00000253159:exon6:c.G832T:p.E278X;ENSG00000130856:ENST00000543926:exon6:c.G832T:p.E278X;ENSG00000130856:ENST00000320610:exon6:c.G838T:p.E280X;	0.995402606873892	0.74
18	74587619	A	C	18	76875663	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.A833C:p.E278A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.A833C:p.E278A;ENSG00000130856:ENST00000253159:exon6:c.A833C:p.E278A;ENSG00000130856:ENST00000543926:exon6:c.A833C:p.E278A;ENSG00000130856:ENST00000320610:exon6:c.A839C:p.E280A;	0.901328184818577	0.632
18	74587619	A	G	18	76875663	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.A833G:p.E278G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.A833G:p.E278G;ENSG00000130856:ENST00000253159:exon6:c.A833G:p.E278G;ENSG00000130856:ENST00000543926:exon6:c.A833G:p.E278G;ENSG00000130856:ENST00000320610:exon6:c.A839G:p.E280G;	0.994902435003114	0.89
18	74587619	A	T	18	76875663	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.A833T:p.E278V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.A833T:p.E278V;ENSG00000130856:ENST00000253159:exon6:c.A833T:p.E278V;ENSG00000130856:ENST00000543926:exon6:c.A833T:p.E278V;ENSG00000130856:ENST00000320610:exon6:c.A839T:p.E280V;	0.999807258339153	0.988
18	74587620	G	A	18	76875664	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon6:c.G834A:p.E278E;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.G834A:p.E278E;ENSG00000130856:ENST00000253159:exon6:c.G834A:p.E278E;ENSG00000130856:ENST00000543926:exon6:c.G834A:p.E278E;ENSG00000130856:ENST00000320610:exon6:c.G840A:p.E280E;	0.999963378089387	0.988
18	74587620	G	C	18	76875664	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.G834C:p.E278D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.G834C:p.E278D;ENSG00000130856:ENST00000253159:exon6:c.G834C:p.E278D;ENSG00000130856:ENST00000543926:exon6:c.G834C:p.E278D;ENSG00000130856:ENST00000320610:exon6:c.G840C:p.E280D;	0.999987314978193	0.998
18	74587620	G	T	18	76875664	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon6:c.G834T:p.E278D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon5:c.G834T:p.E278D;ENSG00000130856:ENST00000253159:exon6:c.G834T:p.E278D;ENSG00000130856:ENST00000543926:exon6:c.G834T:p.E278D;ENSG00000130856:ENST00000320610:exon6:c.G840T:p.E280D;	0.99997079117855	0.992
18	74587621	G	A	18	76875665	y	y	splicing	ZNF236(NM_007345:exon6:c.834+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.840+1G>A;ENST00000253159:exon6:c.834+1G>A;ENST00000543926:exon6:c.834+1G>A;ENST00000579322:exon5:c.834+1G>A)	.	.	0.999949496871441	0.932
18	74587621	G	C	18	76875665	y	y	splicing	ZNF236(NM_007345:exon6:c.834+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.840+1G>C;ENST00000253159:exon6:c.834+1G>C;ENST00000543926:exon6:c.834+1G>C;ENST00000579322:exon5:c.834+1G>C)	.	.	0.999949496871441	0.942
18	74587621	G	T	18	76875665	y	y	splicing	ZNF236(NM_007345:exon6:c.834+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.840+1G>T;ENST00000253159:exon6:c.834+1G>T;ENST00000543926:exon6:c.834+1G>T;ENST00000579322:exon5:c.834+1G>T)	.	.	0.999949496871441	0.938
18	74587622	T	A	18	76875666	y	y	splicing	ZNF236(NM_007345:exon6:c.834+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.840+2T>A;ENST00000253159:exon6:c.834+2T>A;ENST00000543926:exon6:c.834+2T>A;ENST00000579322:exon5:c.834+2T>A)	.	.	0.998522913550795	0.706
18	74587622	T	C	18	76875666	y	y	splicing	ZNF236(NM_007345:exon6:c.834+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.840+2T>C;ENST00000253159:exon6:c.834+2T>C;ENST00000543926:exon6:c.834+2T>C;ENST00000579322:exon5:c.834+2T>C)	.	.	0.714482041643201	0.51
18	74587622	T	G	18	76875666	y	y	splicing	ZNF236(NM_007345:exon6:c.834+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon6:c.840+2T>G;ENST00000253159:exon6:c.834+2T>G;ENST00000543926:exon6:c.834+2T>G;ENST00000579322:exon5:c.834+2T>G)	.	.	0.998522913550795	0.678
18	74587623	A	C	18	76875667	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997431207446028	0.624
18	74587623	A	G	18	76875667	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.595949062254408	0.48
18	74587623	A	T	18	76875667	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997431207446028	0.594
18	74587624	A	C	18	76875668	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.103638484745842	0.444
18	74587624	A	G	18	76875668	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.503228327442797	0.552
18	74587624	A	T	18	76875668	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.308261564963475	0.412
18	74587625	A	C	18	76875669	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.88062862685993E-4	0.008
18	74587625	A	G	18	76875669	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.72281545156777E-4	0.116
18	74587625	A	T	18	76875669	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.8343234655253E-5	0.044
18	74587626	C	A	18	76875670	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40891649321207E-4	0.02
18	74587626	C	G	18	76875670	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.82237221223447E-5	0.02
18	74587626	C	T	18	76875670	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.55575659717572E-5	0.002
18	74587627	A	C	18	76875671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.83646149815302E-4	0.01
18	74587627	A	G	18	76875671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.87044801412701E-4	0.052
18	74587627	A	T	18	76875671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.16998833514963E-4	0.032
18	74587628	C	A	18	76875672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.72410482137535E-6	0.0
18	74587628	C	G	18	76875672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.04900693216345E-6	0.0
18	74587628	C	T	18	76875672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.55312683788388E-6	0.0
18	74589953	T	A	18	76877997	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0134593919403275	0.076
18	74589953	T	C	18	76877997	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.90353806487973E-4	0.018
18	74589953	T	G	18	76877997	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00600873778761963	0.068
18	74589954	T	A	18	76877998	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00105075978852007	0.126
18	74589954	T	C	18	76877998	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.20057410115796E-4	0.02
18	74589954	T	G	18	76877998	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.33652207331771E-4	0.1
18	74589955	A	C	18	76877999	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.07689180757577E-5	0.024
18	74589955	A	G	18	76877999	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.10722561620789E-4	0.044
18	74589955	A	T	18	76877999	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.11452242468468E-5	0.022
18	74589956	T	A	18	76878000	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.52105761618027E-4	0.136
18	74589956	T	C	18	76878000	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.81181543767536E-5	0.044
18	74589956	T	G	18	76878000	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99987153047531	0.926
18	74589957	T	A	18	76878001	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00109146758163995	0.152
18	74589957	T	C	18	76878001	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.02559173740173E-4	0.008
18	74589957	T	G	18	76878001	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00143622177594667	0.076
18	74589958	C	A	18	76878002	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.79346307890336E-5	0.018
18	74589958	C	G	18	76878002	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.59497477075817E-5	0.01
18	74589958	C	T	18	76878002	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.36511014597597E-5	0.0
18	74589959	T	A	18	76878003	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00571866962317002	0.106
18	74589959	T	C	18	76878003	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.50548307582426E-4	0.01
18	74589959	T	G	18	76878003	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00211128408489999	0.162
18	74589960	T	A	18	76878004	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0010979406227191	0.096
18	74589960	T	C	18	76878004	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.9408063935904E-4	0.032
18	74589960	T	G	18	76878004	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.87563854447796E-4	0.14
18	74589961	T	A	18	76878005	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.07128252950751E-4	0.014
18	74589961	T	C	18	76878005	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.02663427479864E-5	0.002
18	74589961	T	G	18	76878005	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.24761133424868E-4	0.006
18	74589962	A	C	18	76878006	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00177396188329895	0.074
18	74589962	A	G	18	76878006	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.403748051465434	0.306
18	74589962	A	T	18	76878006	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.38542516956032E-4	0.01
18	74589963	A	C	18	76878007	y	y	splicing	ZNF236(NM_007345:exon7:c.835-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.841-2A>C;ENST00000253159:exon7:c.835-2A>C;ENST00000543926:exon7:c.835-2A>C;ENST00000579322:exon6:c.835-2A>C)	.	.	0.999993519952936	0.93
18	74589963	A	G	18	76878007	y	y	splicing	ZNF236(NM_007345:exon7:c.835-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.841-2A>G;ENST00000253159:exon7:c.835-2A>G;ENST00000543926:exon7:c.835-2A>G;ENST00000579322:exon6:c.835-2A>G)	.	.	0.999993519952936	0.93
18	74589963	A	T	18	76878007	y	y	splicing	ZNF236(NM_007345:exon7:c.835-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.841-2A>T;ENST00000253159:exon7:c.835-2A>T;ENST00000543926:exon7:c.835-2A>T;ENST00000579322:exon6:c.835-2A>T)	.	.	0.999993519952936	0.93
18	74589964	G	A	18	76878008	y	y	splicing	ZNF236(NM_007345:exon7:c.835-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.841-1G>A;ENST00000253159:exon7:c.835-1G>A;ENST00000543926:exon7:c.835-1G>A;ENST00000579322:exon6:c.835-1G>A)	.	.	0.999988247793601	0.932
18	74589964	G	C	18	76878008	y	y	splicing	ZNF236(NM_007345:exon7:c.835-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.841-1G>C;ENST00000253159:exon7:c.835-1G>C;ENST00000543926:exon7:c.835-1G>C;ENST00000579322:exon6:c.835-1G>C)	.	.	0.999988247793601	0.932
18	74589964	G	T	18	76878008	y	y	splicing	ZNF236(NM_007345:exon7:c.835-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.841-1G>T;ENST00000253159:exon7:c.835-1G>T;ENST00000543926:exon7:c.835-1G>T;ENST00000579322:exon6:c.835-1G>T)	.	.	0.999988247793601	0.932
18	74589965	G	A	18	76878009	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.G835A:p.V279I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.G835A:p.V279I;ENSG00000130856:ENST00000253159:exon7:c.G835A:p.V279I;ENSG00000130856:ENST00000543926:exon7:c.G835A:p.V279I;ENSG00000130856:ENST00000320610:exon7:c.G841A:p.V281I;	0.998201221075407	0.796
18	74589965	G	C	18	76878009	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.G835C:p.V279L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.G835C:p.V279L;ENSG00000130856:ENST00000253159:exon7:c.G835C:p.V279L;ENSG00000130856:ENST00000543926:exon7:c.G835C:p.V279L;ENSG00000130856:ENST00000320610:exon7:c.G841C:p.V281L;	0.994969290025996	0.876
18	74589965	G	T	18	76878009	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.G835T:p.V279F;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.G835T:p.V279F;ENSG00000130856:ENST00000253159:exon7:c.G835T:p.V279F;ENSG00000130856:ENST00000543926:exon7:c.G835T:p.V279F;ENSG00000130856:ENST00000320610:exon7:c.G841T:p.V281F;	0.999153327499935	0.97
18	74589966	T	A	18	76878010	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.T836A:p.V279D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.T836A:p.V279D;ENSG00000130856:ENST00000253159:exon7:c.T836A:p.V279D;ENSG00000130856:ENST00000543926:exon7:c.T836A:p.V279D;ENSG00000130856:ENST00000320610:exon7:c.T842A:p.V281D;	0.00211827722210469	0.03
18	74589966	T	C	18	76878010	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.T836C:p.V279A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.T836C:p.V279A;ENSG00000130856:ENST00000253159:exon7:c.T836C:p.V279A;ENSG00000130856:ENST00000543926:exon7:c.T836C:p.V279A;ENSG00000130856:ENST00000320610:exon7:c.T842C:p.V281A;	0.00950943422813387	0.106
18	74589966	T	G	18	76878010	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.T836G:p.V279G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.T836G:p.V279G;ENSG00000130856:ENST00000253159:exon7:c.T836G:p.V279G;ENSG00000130856:ENST00000543926:exon7:c.T836G:p.V279G;ENSG00000130856:ENST00000320610:exon7:c.T842G:p.V281G;	0.00785115044701129	0.074
18	74590106	A	C	18	76878150	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.A976C:p.T326P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.A976C:p.T326P;ENSG00000130856:ENST00000253159:exon7:c.A976C:p.T326P;ENSG00000130856:ENST00000543926:exon7:c.A976C:p.T326P;ENSG00000130856:ENST00000320610:exon7:c.A982C:p.T328P;	0.0225967171524558	0.258
18	74590106	A	G	18	76878150	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.A976G:p.T326A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.A976G:p.T326A;ENSG00000130856:ENST00000253159:exon7:c.A976G:p.T326A;ENSG00000130856:ENST00000543926:exon7:c.A976G:p.T326A;ENSG00000130856:ENST00000320610:exon7:c.A982G:p.T328A;	0.00239209927185004	0.072
18	74590106	A	T	18	76878150	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.A976T:p.T326S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.A976T:p.T326S;ENSG00000130856:ENST00000253159:exon7:c.A976T:p.T326S;ENSG00000130856:ENST00000543926:exon7:c.A976T:p.T326S;ENSG00000130856:ENST00000320610:exon7:c.A982T:p.T328S;	0.104477752343173	0.186
18	74590107	C	A	18	76878151	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.C977A:p.T326K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.C977A:p.T326K;ENSG00000130856:ENST00000253159:exon7:c.C977A:p.T326K;ENSG00000130856:ENST00000543926:exon7:c.C977A:p.T326K;ENSG00000130856:ENST00000320610:exon7:c.C983A:p.T328K;	0.00570345325859605	0.08
18	74590107	C	G	18	76878151	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.C977G:p.T326R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.C977G:p.T326R;ENSG00000130856:ENST00000253159:exon7:c.C977G:p.T326R;ENSG00000130856:ENST00000543926:exon7:c.C977G:p.T326R;ENSG00000130856:ENST00000320610:exon7:c.C983G:p.T328R;	0.0557013632659152	0.246
18	74590107	C	T	18	76878151	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon7:c.C977T:p.T326M;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.C977T:p.T326M;ENSG00000130856:ENST00000253159:exon7:c.C977T:p.T326M;ENSG00000130856:ENST00000543926:exon7:c.C977T:p.T326M;ENSG00000130856:ENST00000320610:exon7:c.C983T:p.T328M;	0.452473032567196	0.37
18	74590108	G	A	18	76878152	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon7:c.G978A:p.T326T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.G978A:p.T326T;ENSG00000130856:ENST00000253159:exon7:c.G978A:p.T326T;ENSG00000130856:ENST00000543926:exon7:c.G978A:p.T326T;ENSG00000130856:ENST00000320610:exon7:c.G984A:p.T328T;	0.840600936592239	0.484
18	74590108	G	C	18	76878152	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon7:c.G978C:p.T326T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.G978C:p.T326T;ENSG00000130856:ENST00000253159:exon7:c.G978C:p.T326T;ENSG00000130856:ENST00000543926:exon7:c.G978C:p.T326T;ENSG00000130856:ENST00000320610:exon7:c.G984C:p.T328T;	0.692637701497079	0.656
18	74590108	G	T	18	76878152	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon7:c.G978T:p.T326T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon6:c.G978T:p.T326T;ENSG00000130856:ENST00000253159:exon7:c.G978T:p.T326T;ENSG00000130856:ENST00000543926:exon7:c.G978T:p.T326T;ENSG00000130856:ENST00000320610:exon7:c.G984T:p.T328T;	0.920254703169839	0.636
18	74590109	G	A	18	76878153	y	y	splicing	ZNF236(NM_007345:exon7:c.978+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.984+1G>A;ENST00000253159:exon7:c.978+1G>A;ENST00000543926:exon7:c.978+1G>A;ENST00000579322:exon6:c.978+1G>A)	.	.	0.999988247793601	0.924
18	74590109	G	C	18	76878153	y	y	splicing	ZNF236(NM_007345:exon7:c.978+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.984+1G>C;ENST00000253159:exon7:c.978+1G>C;ENST00000543926:exon7:c.978+1G>C;ENST00000579322:exon6:c.978+1G>C)	.	.	0.999988247793601	0.924
18	74590109	G	T	18	76878153	y	y	splicing	ZNF236(NM_007345:exon7:c.978+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.984+1G>T;ENST00000253159:exon7:c.978+1G>T;ENST00000543926:exon7:c.978+1G>T;ENST00000579322:exon6:c.978+1G>T)	.	.	0.999988247793601	0.924
18	74590110	T	A	18	76878154	y	y	splicing	ZNF236(NM_007345:exon7:c.978+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.984+2T>A;ENST00000253159:exon7:c.978+2T>A;ENST00000543926:exon7:c.978+2T>A;ENST00000579322:exon6:c.978+2T>A)	.	.	0.999993519952936	0.928
18	74590110	T	C	18	76878154	y	y	splicing	ZNF236(NM_007345:exon7:c.978+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.984+2T>C;ENST00000253159:exon7:c.978+2T>C;ENST00000543926:exon7:c.978+2T>C;ENST00000579322:exon6:c.978+2T>C)	.	.	0.989490785358834	0.592
18	74590110	T	G	18	76878154	y	y	splicing	ZNF236(NM_007345:exon7:c.978+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon7:c.984+2T>G;ENST00000253159:exon7:c.978+2T>G;ENST00000543926:exon7:c.978+2T>G;ENST00000579322:exon6:c.978+2T>G)	.	.	0.999993519952936	0.928
18	74590111	A	C	18	76878155	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.757918316024911	0.508
18	74590111	A	G	18	76878155	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.42156889976322E-4	0.048
18	74590111	A	T	18	76878155	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.59708488523189	0.478
18	74590112	A	C	18	76878156	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.200475337769399	0.298
18	74590112	A	G	18	76878156	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.343811364974108	0.412
18	74590112	A	T	18	76878156	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.331969408983562	0.29
18	74590113	G	A	18	76878157	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.974617326576976	0.814
18	74590113	G	C	18	76878157	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.992986773931705	0.84
18	74590113	G	T	18	76878157	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994890182791032	0.826
18	74590114	T	A	18	76878158	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00905099268499363	0.112
18	74590114	T	C	18	76878158	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0222890350044313	0.15
18	74590114	T	G	18	76878158	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0018053952153349	0.102
18	74590115	T	A	18	76878159	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.21649339220785E-5	0.0
18	74590115	T	C	18	76878159	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.21649339220785E-5	0.004
18	74590115	T	G	18	76878159	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.69636669461696E-5	0.0
18	74590116	T	A	18	76878160	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40583297660189E-4	0.024
18	74590116	T	C	18	76878160	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40583297660189E-4	0.012
18	74590116	T	G	18	76878160	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40583297660189E-4	0.012
18	74592057	T	A	18	76880101	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00877196077230175	0.11
18	74592057	T	C	18	76880101	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.91757030532589E-5	0.0
18	74592057	T	G	18	76880101	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00419623237763335	0.12
18	74592058	C	A	18	76880102	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0106688261024625	0.07
18	74592058	C	G	18	76880102	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00132429684883586	0.012
18	74592058	C	T	18	76880102	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.05386857383127E-5	0.0
18	74592059	T	A	18	76880103	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99972852301679	0.97
18	74592059	T	C	18	76880103	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00763329582925575	0.09
18	74592059	T	G	18	76880103	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.751208135738768	0.55
18	74592060	G	A	18	76880104	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.52368226790758E-4	0.076
18	74592060	G	C	18	76880104	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.98896584025212E-4	0.018
18	74592060	G	T	18	76880104	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.40083539142397E-4	0.066
18	74592061	T	A	18	76880105	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999874275865846	0.976
18	74592061	T	C	18	76880105	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.99837702302372E-4	0.01
18	74592061	T	G	18	76880105	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.066173326391417	0.37
18	74592062	G	A	18	76880106	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00638937393973433	0.054
18	74592062	G	C	18	76880106	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00146238262115856	0.008
18	74592062	G	T	18	76880106	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00101572651822346	0.008
18	74592063	T	A	18	76880107	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.98034102505698	0.726
18	74592063	T	C	18	76880107	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0165700960394808	0.106
18	74592063	T	G	18	76880107	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.983874493211461	0.702
18	74592064	T	A	18	76880108	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.953546098527494	0.768
18	74592064	T	C	18	76880108	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0686577672361403	0.22
18	74592064	T	G	18	76880108	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.987992424404072	0.768
18	74592065	T	A	18	76880109	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.64175780862694E-4	0.02
18	74592065	T	C	18	76880109	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.97607702083247E-4	0.002
18	74592065	T	G	18	76880109	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.49254850407729E-4	0.014
18	74592066	C	A	18	76880110	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994498288429645	0.878
18	74592066	C	G	18	76880110	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999886158066491	0.946
18	74592066	C	T	18	76880110	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.266804266342005	0.188
18	74592067	A	C	18	76880111	y	y	splicing	ZNF236(NM_007345:exon8:c.979-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.985-2A>C;ENST00000253159:exon8:c.979-2A>C;ENST00000543926:exon8:c.979-2A>C;ENST00000579322:exon7:c.979-2A>C)	.	.	0.999989917668626	0.924
18	74592067	A	G	18	76880111	y	y	splicing	ZNF236(NM_007345:exon8:c.979-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.985-2A>G;ENST00000253159:exon8:c.979-2A>G;ENST00000543926:exon8:c.979-2A>G;ENST00000579322:exon7:c.979-2A>G)	.	.	0.999989917668626	0.924
18	74592067	A	T	18	76880111	y	y	splicing	ZNF236(NM_007345:exon8:c.979-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.985-2A>T;ENST00000253159:exon8:c.979-2A>T;ENST00000543926:exon8:c.979-2A>T;ENST00000579322:exon7:c.979-2A>T)	.	.	0.999989917668626	0.918
18	74592068	G	A	18	76880112	y	y	splicing	ZNF236(NM_007345:exon8:c.979-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.985-1G>A;ENST00000253159:exon8:c.979-1G>A;ENST00000543926:exon8:c.979-1G>A;ENST00000579322:exon7:c.979-1G>A)	.	.	0.999976137096505	0.932
18	74592068	G	C	18	76880112	y	y	splicing	ZNF236(NM_007345:exon8:c.979-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.985-1G>C;ENST00000253159:exon8:c.979-1G>C;ENST00000543926:exon8:c.979-1G>C;ENST00000579322:exon7:c.979-1G>C)	.	.	0.999938422912956	0.93
18	74592068	G	T	18	76880112	y	y	splicing	ZNF236(NM_007345:exon8:c.979-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.985-1G>T;ENST00000253159:exon8:c.979-1G>T;ENST00000543926:exon8:c.979-1G>T;ENST00000579322:exon7:c.979-1G>T)	.	.	0.999976137096505	0.93
18	74592069	G	A	18	76880113	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.G979A:p.A327T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.G979A:p.A327T;ENSG00000130856:ENST00000253159:exon8:c.G979A:p.A327T;ENSG00000130856:ENST00000543926:exon8:c.G979A:p.A327T;ENSG00000130856:ENST00000320610:exon8:c.G985A:p.A329T;	0.997730287361455	0.794
18	74592069	G	C	18	76880113	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.G979C:p.A327P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.G979C:p.A327P;ENSG00000130856:ENST00000253159:exon8:c.G979C:p.A327P;ENSG00000130856:ENST00000543926:exon8:c.G979C:p.A327P;ENSG00000130856:ENST00000320610:exon8:c.G985C:p.A329P;	0.998260978887422	0.974
18	74592069	G	T	18	76880113	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.G979T:p.A327S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.G979T:p.A327S;ENSG00000130856:ENST00000253159:exon8:c.G979T:p.A327S;ENSG00000130856:ENST00000543926:exon8:c.G979T:p.A327S;ENSG00000130856:ENST00000320610:exon8:c.G985T:p.A329S;	0.998024711560675	0.962
18	74592070	C	A	18	76880114	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.C980A:p.A327D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.C980A:p.A327D;ENSG00000130856:ENST00000253159:exon8:c.C980A:p.A327D;ENSG00000130856:ENST00000543926:exon8:c.C980A:p.A327D;ENSG00000130856:ENST00000320610:exon8:c.C986A:p.A329D;	0.536410770877758	0.51
18	74592070	C	G	18	76880114	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.C980G:p.A327G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.C980G:p.A327G;ENSG00000130856:ENST00000253159:exon8:c.C980G:p.A327G;ENSG00000130856:ENST00000543926:exon8:c.C980G:p.A327G;ENSG00000130856:ENST00000320610:exon8:c.C986G:p.A329G;	0.163917217892739	0.48
18	74592070	C	T	18	76880114	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.C980T:p.A327V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.C980T:p.A327V;ENSG00000130856:ENST00000253159:exon8:c.C980T:p.A327V;ENSG00000130856:ENST00000543926:exon8:c.C980T:p.A327V;ENSG00000130856:ENST00000320610:exon8:c.C986T:p.A329V;	0.0169388661075273	0.088
18	74592270	C	A	18	76880314	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.C1180A:p.Q394K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.C1180A:p.Q394K;ENSG00000130856:ENST00000253159:exon8:c.C1180A:p.Q394K;ENSG00000130856:ENST00000543926:exon8:c.C1180A:p.Q394K;ENSG00000130856:ENST00000320610:exon8:c.C1186A:p.Q396K;	0.808693627941584	0.634
18	74592270	C	G	18	76880314	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.C1180G:p.Q394E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.C1180G:p.Q394E;ENSG00000130856:ENST00000253159:exon8:c.C1180G:p.Q394E;ENSG00000130856:ENST00000543926:exon8:c.C1180G:p.Q394E;ENSG00000130856:ENST00000320610:exon8:c.C1186G:p.Q396E;	0.864201578216459	0.544
18	74592270	C	T	18	76880314	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon8:c.C1180T:p.Q394X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000579322:exon7:c.C1180T:p.Q394X;ENSG00000130856:ENST00000253159:exon8:c.C1180T:p.Q394X;ENSG00000130856:ENST00000543926:exon8:c.C1180T:p.Q394X;ENSG00000130856:ENST00000320610:exon8:c.C1186T:p.Q396X;	0.999516348812897	0.958
18	74592271	A	C	18	76880315	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.A1181C:p.Q394P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.A1181C:p.Q394P;ENSG00000130856:ENST00000253159:exon8:c.A1181C:p.Q394P;ENSG00000130856:ENST00000543926:exon8:c.A1181C:p.Q394P;ENSG00000130856:ENST00000320610:exon8:c.A1187C:p.Q396P;	0.999793363146704	0.984
18	74592271	A	G	18	76880315	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.A1181G:p.Q394R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.A1181G:p.Q394R;ENSG00000130856:ENST00000253159:exon8:c.A1181G:p.Q394R;ENSG00000130856:ENST00000543926:exon8:c.A1181G:p.Q394R;ENSG00000130856:ENST00000320610:exon8:c.A1187G:p.Q396R;	0.999965487996281	1.0
18	74592271	A	T	18	76880315	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.A1181T:p.Q394L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.A1181T:p.Q394L;ENSG00000130856:ENST00000253159:exon8:c.A1181T:p.Q394L;ENSG00000130856:ENST00000543926:exon8:c.A1181T:p.Q394L;ENSG00000130856:ENST00000320610:exon8:c.A1187T:p.Q396L;	0.999966724762657	0.994
18	74592272	G	A	18	76880316	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon8:c.G1182A:p.Q394Q;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.G1182A:p.Q394Q;ENSG00000130856:ENST00000253159:exon8:c.G1182A:p.Q394Q;ENSG00000130856:ENST00000543926:exon8:c.G1182A:p.Q394Q;ENSG00000130856:ENST00000320610:exon8:c.G1188A:p.Q396Q;	0.999996047024273	0.998
18	74592272	G	C	18	76880316	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.G1182C:p.Q394H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.G1182C:p.Q394H;ENSG00000130856:ENST00000253159:exon8:c.G1182C:p.Q394H;ENSG00000130856:ENST00000543926:exon8:c.G1182C:p.Q394H;ENSG00000130856:ENST00000320610:exon8:c.G1188C:p.Q396H;	0.999998511638449	1.0
18	74592272	G	T	18	76880316	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon8:c.G1182T:p.Q394H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon7:c.G1182T:p.Q394H;ENSG00000130856:ENST00000253159:exon8:c.G1182T:p.Q394H;ENSG00000130856:ENST00000543926:exon8:c.G1182T:p.Q394H;ENSG00000130856:ENST00000320610:exon8:c.G1188T:p.Q396H;	0.999993655291701	1.0
18	74592273	G	A	18	76880317	y	y	splicing	ZNF236(NM_007345:exon8:c.1182+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.1188+1G>A;ENST00000253159:exon8:c.1182+1G>A;ENST00000543926:exon8:c.1182+1G>A;ENST00000579322:exon7:c.1182+1G>A)	.	.	0.999986741007567	0.932
18	74592273	G	C	18	76880317	y	y	splicing	ZNF236(NM_007345:exon8:c.1182+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.1188+1G>C;ENST00000253159:exon8:c.1182+1G>C;ENST00000543926:exon8:c.1182+1G>C;ENST00000579322:exon7:c.1182+1G>C)	.	.	0.999986741007567	0.932
18	74592273	G	T	18	76880317	y	y	splicing	ZNF236(NM_007345:exon8:c.1182+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.1188+1G>T;ENST00000253159:exon8:c.1182+1G>T;ENST00000543926:exon8:c.1182+1G>T;ENST00000579322:exon7:c.1182+1G>T)	.	.	0.999986741007567	0.932
18	74592274	T	A	18	76880318	y	y	splicing	ZNF236(NM_007345:exon8:c.1182+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.1188+2T>A;ENST00000253159:exon8:c.1182+2T>A;ENST00000543926:exon8:c.1182+2T>A;ENST00000579322:exon7:c.1182+2T>A)	.	.	0.999992689121502	0.938
18	74592274	T	C	18	76880318	y	y	splicing	ZNF236(NM_007345:exon8:c.1182+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.1188+2T>C;ENST00000253159:exon8:c.1182+2T>C;ENST00000543926:exon8:c.1182+2T>C;ENST00000579322:exon7:c.1182+2T>C)	.	.	0.999966829575985	0.862
18	74592274	T	G	18	76880318	y	y	splicing	ZNF236(NM_007345:exon8:c.1182+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon8:c.1188+2T>G;ENST00000253159:exon8:c.1182+2T>G;ENST00000543926:exon8:c.1182+2T>G;ENST00000579322:exon7:c.1182+2T>G)	.	.	0.999992689121502	0.938
18	74592275	G	A	18	76880319	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.93134604883769E-4	0.078
18	74592275	G	C	18	76880319	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.972088168217149	0.76
18	74592275	G	T	18	76880319	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.979710678959223	0.758
18	74592276	A	C	18	76880320	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.834940692686688	0.456
18	74592276	A	G	18	76880320	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997280349127659	0.85
18	74592276	A	T	18	76880320	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.993577994501986	0.824
18	74592277	A	C	18	76880321	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.60713019648574E-4	0.028
18	74592277	A	G	18	76880321	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00134056161329699	0.1
18	74592277	A	T	18	76880321	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00491441900114605	0.052
18	74592278	G	A	18	76880322	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.05882096444403E-4	0.018
18	74592278	G	C	18	76880322	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.38846204349151E-4	0.144
18	74592278	G	T	18	76880322	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.1419288956466E-5	0.018
18	74592279	C	A	18	76880323	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.50956067572625E-5	0.0
18	74592279	C	G	18	76880323	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.12574110171428E-4	0.032
18	74592279	C	T	18	76880323	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.50543016066629E-5	0.008
18	74592280	A	C	18	76880324	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.31792626285363E-5	0.006
18	74592280	A	G	18	76880324	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.31792626285363E-5	0.006
18	74592280	A	T	18	76880324	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.12461896315825E-5	0.006
18	74593228	G	A	18	76881272	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0393259244298036	0.168
18	74593228	G	C	18	76881272	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0473043998214172	0.242
18	74593228	G	T	18	76881272	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0251216025178393	0.314
18	74593229	T	A	18	76881273	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999805342035521	0.98
18	74593229	T	C	18	76881273	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.959782817206759	0.598
18	74593229	T	G	18	76881273	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99948290024476	0.906
18	74593230	T	A	18	76881274	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999645026727962	0.89
18	74593230	T	C	18	76881274	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0481761067735446	0.462
18	74593230	T	G	18	76881274	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999406926848302	0.892
18	74593231	C	A	18	76881275	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.830011231728501	0.566
18	74593231	C	G	18	76881275	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.820945280077397	0.478
18	74593231	C	T	18	76881275	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.664532988736421	0.676
18	74593232	T	A	18	76881276	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999940933624007	0.992
18	74593232	T	C	18	76881276	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00394582207756251	0.108
18	74593232	T	G	18	76881276	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.899808212219285	0.58
18	74593233	G	A	18	76881277	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0167100321519224	0.098
18	74593233	G	C	18	76881277	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0079552756359908	0.022
18	74593233	G	T	18	76881277	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00183498720021875	0.016
18	74593234	T	A	18	76881278	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994434693950013	0.818
18	74593234	T	C	18	76881278	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00183803992514981	0.16
18	74593234	T	G	18	76881278	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994485990837482	0.83
18	74593235	C	A	18	76881279	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.202309866448215	0.404
18	74593235	C	G	18	76881279	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.161430369586205	0.402
18	74593235	C	T	18	76881279	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.001493967488803	0.046
18	74593236	T	A	18	76881280	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.48060451892617E-4	0.008
18	74593236	T	C	18	76881280	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.11015750860896E-4	0.018
18	74593236	T	G	18	76881280	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.39134649883432E-4	0.016
18	74593237	T	A	18	76881281	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.107887745227587	0.424
18	74593237	T	C	18	76881281	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.38436212993423E-4	0.018
18	74593237	T	G	18	76881281	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.985057320062211	0.732
18	74593238	A	C	18	76881282	y	y	splicing	ZNF236(NM_007345:exon9:c.1183-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1189-2A>C;ENST00000253159:exon9:c.1183-2A>C;ENST00000543926:exon9:c.1183-2A>C;ENST00000579322:exon8:c.1183-2A>C)	.	.	0.999993519952936	0.928
18	74593238	A	G	18	76881282	y	y	splicing	ZNF236(NM_007345:exon9:c.1183-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1189-2A>G;ENST00000253159:exon9:c.1183-2A>G;ENST00000543926:exon9:c.1183-2A>G;ENST00000579322:exon8:c.1183-2A>G)	.	.	0.999993519952936	0.928
18	74593238	A	T	18	76881282	y	y	splicing	ZNF236(NM_007345:exon9:c.1183-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1189-2A>T;ENST00000253159:exon9:c.1183-2A>T;ENST00000543926:exon9:c.1183-2A>T;ENST00000579322:exon8:c.1183-2A>T)	.	.	0.999993519952936	0.928
18	74593239	G	A	18	76881283	y	y	splicing	ZNF236(NM_007345:exon9:c.1183-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1189-1G>A;ENST00000253159:exon9:c.1183-1G>A;ENST00000543926:exon9:c.1183-1G>A;ENST00000579322:exon8:c.1183-1G>A)	.	.	0.999988247793601	0.93
18	74593239	G	C	18	76881283	y	y	splicing	ZNF236(NM_007345:exon9:c.1183-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1189-1G>C;ENST00000253159:exon9:c.1183-1G>C;ENST00000543926:exon9:c.1183-1G>C;ENST00000579322:exon8:c.1183-1G>C)	.	.	0.999988247793601	0.93
18	74593239	G	T	18	76881283	y	y	splicing	ZNF236(NM_007345:exon9:c.1183-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1189-1G>T;ENST00000253159:exon9:c.1183-1G>T;ENST00000543926:exon9:c.1183-1G>T;ENST00000579322:exon8:c.1183-1G>T)	.	.	0.999988247793601	0.93
18	74593240	C	A	18	76881284	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.C1183A:p.Q395K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon8:c.C1183A:p.Q395K;ENSG00000130856:ENST00000253159:exon9:c.C1183A:p.Q395K;ENSG00000130856:ENST00000543926:exon9:c.C1183A:p.Q395K;ENSG00000130856:ENST00000320610:exon9:c.C1189A:p.Q397K;	0.772813297755937	0.716
18	74593240	C	G	18	76881284	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.C1183G:p.Q395E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon8:c.C1183G:p.Q395E;ENSG00000130856:ENST00000253159:exon9:c.C1183G:p.Q395E;ENSG00000130856:ENST00000543926:exon9:c.C1183G:p.Q395E;ENSG00000130856:ENST00000320610:exon9:c.C1189G:p.Q397E;	0.806562074945949	0.576
18	74593240	C	T	18	76881284	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon9:c.C1183T:p.Q395X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000579322:exon8:c.C1183T:p.Q395X;ENSG00000130856:ENST00000253159:exon9:c.C1183T:p.Q395X;ENSG00000130856:ENST00000543926:exon9:c.C1183T:p.Q395X;ENSG00000130856:ENST00000320610:exon9:c.C1189T:p.Q397X;	0.893496004917	0.752
18	74593241	A	C	18	76881285	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.A1184C:p.Q395P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon8:c.A1184C:p.Q395P;ENSG00000130856:ENST00000253159:exon9:c.A1184C:p.Q395P;ENSG00000130856:ENST00000543926:exon9:c.A1184C:p.Q395P;ENSG00000130856:ENST00000320610:exon9:c.A1190C:p.Q397P;	0.830430533990321	0.802
18	74593241	A	G	18	76881285	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.A1184G:p.Q395R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon8:c.A1184G:p.Q395R;ENSG00000130856:ENST00000253159:exon9:c.A1184G:p.Q395R;ENSG00000130856:ENST00000543926:exon9:c.A1184G:p.Q395R;ENSG00000130856:ENST00000320610:exon9:c.A1190G:p.Q397R;	0.733137943489036	0.762
18	74593241	A	T	18	76881285	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.A1184T:p.Q395L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000579322:exon8:c.A1184T:p.Q395L;ENSG00000130856:ENST00000253159:exon9:c.A1184T:p.Q395L;ENSG00000130856:ENST00000543926:exon9:c.A1184T:p.Q395L;ENSG00000130856:ENST00000320610:exon9:c.A1190T:p.Q397L;	0.669844282551559	0.738
18	74593466	C	A	18	76881510	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.C1409A:p.P470H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.C1409A:p.P470H;ENSG00000130856:ENST00000543926:exon9:c.C1409A:p.P470H;ENSG00000130856:ENST00000320610:exon9:c.C1415A:p.P472H;	0.815411452856866	0.746
18	74593466	C	G	18	76881510	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.C1409G:p.P470R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.C1409G:p.P470R;ENSG00000130856:ENST00000543926:exon9:c.C1409G:p.P470R;ENSG00000130856:ENST00000320610:exon9:c.C1415G:p.P472R;	0.762660798179987	0.602
18	74593466	C	T	18	76881510	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.C1409T:p.P470L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.C1409T:p.P470L;ENSG00000130856:ENST00000543926:exon9:c.C1409T:p.P470L;ENSG00000130856:ENST00000320610:exon9:c.C1415T:p.P472L;	0.945773810574756	0.636
18	74593467	T	A	18	76881511	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon9:c.T1410A:p.P470P;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.T1410A:p.P470P;ENSG00000130856:ENST00000543926:exon9:c.T1410A:p.P470P;ENSG00000130856:ENST00000320610:exon9:c.T1416A:p.P472P;	2.15368732055148E-4	0.124
18	74593467	T	C	18	76881511	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon9:c.T1410C:p.P470P;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.T1410C:p.P470P;ENSG00000130856:ENST00000543926:exon9:c.T1410C:p.P470P;ENSG00000130856:ENST00000320610:exon9:c.T1416C:p.P472P;	3.10281565263102E-5	0.028
18	74593467	T	G	18	76881511	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon9:c.T1410G:p.P470P;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.T1410G:p.P470P;ENSG00000130856:ENST00000543926:exon9:c.T1410G:p.P470P;ENSG00000130856:ENST00000320610:exon9:c.T1416G:p.P472P;	5.01953628718058E-5	0.054
18	74593468	G	A	18	76881512	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.G1411A:p.G471S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.G1411A:p.G471S;ENSG00000130856:ENST00000543926:exon9:c.G1411A:p.G471S;ENSG00000130856:ENST00000320610:exon9:c.G1417A:p.G473S;	0.999996748057127	1.0
18	74593468	G	C	18	76881512	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.G1411C:p.G471R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.G1411C:p.G471R;ENSG00000130856:ENST00000543926:exon9:c.G1411C:p.G471R;ENSG00000130856:ENST00000320610:exon9:c.G1417C:p.G473R;	0.99999102471288	0.988
18	74593468	G	T	18	76881512	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon9:c.G1411T:p.G471C;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon9:c.G1411T:p.G471C;ENSG00000130856:ENST00000543926:exon9:c.G1411T:p.G471C;ENSG00000130856:ENST00000320610:exon9:c.G1417T:p.G473C;	0.999990846406755	1.0
18	74593469	G	A	18	76881513	y	y	splicing	ZNF236(NM_007345:exon9:c.1411+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1417+1G>A;ENST00000253159:exon9:c.1411+1G>A;ENST00000543926:exon9:c.1411+1G>A)	.	.	0.999986675681007	0.956
18	74593469	G	C	18	76881513	y	y	splicing	ZNF236(NM_007345:exon9:c.1411+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1417+1G>C;ENST00000253159:exon9:c.1411+1G>C;ENST00000543926:exon9:c.1411+1G>C)	.	.	0.999986675681007	0.956
18	74593469	G	T	18	76881513	y	y	splicing	ZNF236(NM_007345:exon9:c.1411+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1417+1G>T;ENST00000253159:exon9:c.1411+1G>T;ENST00000543926:exon9:c.1411+1G>T)	.	.	0.999986675681007	0.956
18	74593470	T	A	18	76881514	y	y	splicing	ZNF236(NM_007345:exon9:c.1411+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1417+2T>A;ENST00000253159:exon9:c.1411+2T>A;ENST00000543926:exon9:c.1411+2T>A)	.	.	0.999989917668626	0.94
18	74593470	T	C	18	76881514	y	y	splicing	ZNF236(NM_007345:exon9:c.1411+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1417+2T>C;ENST00000253159:exon9:c.1411+2T>C;ENST00000543926:exon9:c.1411+2T>C)	.	.	0.986528855787127	0.61
18	74593470	T	G	18	76881514	y	y	splicing	ZNF236(NM_007345:exon9:c.1411+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon9:c.1417+2T>G;ENST00000253159:exon9:c.1411+2T>G;ENST00000543926:exon9:c.1411+2T>G)	.	.	0.999989917668626	0.94
18	74593471	A	C	18	76881515	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999930763323349	0.97
18	74593471	A	G	18	76881515	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.970694035287623	0.902
18	74593471	A	T	18	76881515	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999914753716926	0.93
18	74593472	A	C	18	76881516	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.468981207945642	0.49
18	74593472	A	G	18	76881516	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.995446263820602	0.89
18	74593472	A	T	18	76881516	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.958582655036545	0.716
18	74593473	T	A	18	76881517	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00741610082019083	0.056
18	74593473	T	C	18	76881517	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0175845647872612	0.132
18	74593473	T	G	18	76881517	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00107289423529558	0.07
18	74593474	T	A	18	76881518	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00455760380294435	0.176
18	74593474	T	C	18	76881518	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.43751038730543	0.508
18	74593474	T	G	18	76881518	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.15339993430542E-4	0.128
18	74593475	T	A	18	76881519	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.12650773005937E-5	0.0
18	74593475	T	C	18	76881519	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.12650773005937E-5	0.0
18	74593475	T	G	18	76881519	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.12650773005937E-5	0.006
18	74593476	T	A	18	76881520	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.31124665244732E-5	0.04
18	74593476	T	C	18	76881520	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.39383739421479E-5	0.002
18	74593476	T	G	18	76881520	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.03861854577499E-5	0.052
18	74606957	C	A	18	76895001	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.46825932443878E-5	0.004
18	74606957	C	G	18	76895001	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.55691368372989E-5	0.002
18	74606957	C	T	18	76895001	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.27023735968538E-5	0.0
18	74606958	T	A	18	76895002	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00107716613566941	0.148
18	74606958	T	C	18	76895002	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.01321762941724E-4	0.046
18	74606958	T	G	18	76895002	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.81039277016928E-4	0.12
18	74606959	C	A	18	76895003	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.76966858558788E-4	0.174
18	74606959	C	G	18	76895003	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.37324126019322E-5	0.02
18	74606959	C	T	18	76895003	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.80030750870831E-5	0.004
18	74606960	C	A	18	76895004	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.35894291709107E-4	0.036
18	74606960	C	G	18	76895004	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.3612065128584E-4	0.012
18	74606960	C	T	18	76895004	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.90998303420855E-5	0.0
18	74606961	C	A	18	76895005	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.62693241868405E-4	0.02
18	74606961	C	G	18	76895005	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.22392929184903E-4	0.014
18	74606961	C	T	18	76895005	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.95988366694445E-5	0.014
18	74606962	T	A	18	76895006	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.32705405222467E-4	0.08
18	74606962	T	C	18	76895006	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.88923595234722E-5	0.048
18	74606962	T	G	18	76895006	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.12227225728523E-4	0.07
18	74606963	T	A	18	76895007	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.93365212396238E-5	0.036
18	74606963	T	C	18	76895007	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.63903747106286E-6	0.0
18	74606963	T	G	18	76895007	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.00793856604494E-4	0.046
18	74606964	C	A	18	76895008	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.51330618541239E-4	0.022
18	74606964	C	G	18	76895008	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.88643906825316E-4	0.026
18	74606964	C	T	18	76895008	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.70846223368108E-5	0.0
18	74606965	A	C	18	76895009	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.03944032936138E-6	0.004
18	74606965	A	G	18	76895009	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.00720376625508E-5	0.0
18	74606965	A	T	18	76895009	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.63260299319537E-5	0.004
18	74606966	C	A	18	76895010	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.330349596425075	0.34
18	74606966	C	G	18	76895010	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998374128389404	0.932
18	74606966	C	T	18	76895010	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0063402493630483	0.11
18	74606967	A	C	18	76895011	y	y	splicing	ZNF236(NM_007345:exon10:c.1412-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1418-2A>C;ENST00000253159:exon10:c.1412-2A>C;ENST00000543926:exon10:c.1412-2A>C)	.	.	0.999989917668626	0.926
18	74606967	A	G	18	76895011	y	y	splicing	ZNF236(NM_007345:exon10:c.1412-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1418-2A>G;ENST00000253159:exon10:c.1412-2A>G;ENST00000543926:exon10:c.1412-2A>G)	.	.	0.999989917668626	0.926
18	74606967	A	T	18	76895011	y	y	splicing	ZNF236(NM_007345:exon10:c.1412-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1418-2A>T;ENST00000253159:exon10:c.1412-2A>T;ENST00000543926:exon10:c.1412-2A>T)	.	.	0.999989917668626	0.926
18	74606968	G	A	18	76895012	y	y	splicing	ZNF236(NM_007345:exon10:c.1412-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1418-1G>A;ENST00000253159:exon10:c.1412-1G>A;ENST00000543926:exon10:c.1412-1G>A)	.	.	0.999986675681007	0.938
18	74606968	G	C	18	76895012	y	y	splicing	ZNF236(NM_007345:exon10:c.1412-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1418-1G>C;ENST00000253159:exon10:c.1412-1G>C;ENST00000543926:exon10:c.1412-1G>C)	.	.	0.999986675681007	0.938
18	74606968	G	T	18	76895012	y	y	splicing	ZNF236(NM_007345:exon10:c.1412-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1418-1G>T;ENST00000253159:exon10:c.1412-1G>T;ENST00000543926:exon10:c.1412-1G>T)	.	.	0.999986675681007	0.938
18	74606969	G	A	18	76895013	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon10:c.G1412A:p.G471D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.G1412A:p.G471D;ENSG00000130856:ENST00000543926:exon10:c.G1412A:p.G471D;ENSG00000130856:ENST00000320610:exon10:c.G1418A:p.G473D;	0.996694229647193	0.812
18	74606969	G	C	18	76895013	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon10:c.G1412C:p.G471A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.G1412C:p.G471A;ENSG00000130856:ENST00000543926:exon10:c.G1412C:p.G471A;ENSG00000130856:ENST00000320610:exon10:c.G1418C:p.G473A;	0.999523312325863	0.9
18	74606969	G	T	18	76895013	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon10:c.G1412T:p.G471V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.G1412T:p.G471V;ENSG00000130856:ENST00000543926:exon10:c.G1412T:p.G471V;ENSG00000130856:ENST00000320610:exon10:c.G1418T:p.G473V;	0.999109506394173	0.93
18	74606970	C	A	18	76895014	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon10:c.C1413A:p.G471G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.C1413A:p.G471G;ENSG00000130856:ENST00000543926:exon10:c.C1413A:p.G471G;ENSG00000130856:ENST00000320610:exon10:c.C1419A:p.G473G;	3.12320208627052E-5	0.0
18	74606970	C	G	18	76895014	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon10:c.C1413G:p.G471G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.C1413G:p.G471G;ENSG00000130856:ENST00000543926:exon10:c.C1413G:p.G471G;ENSG00000130856:ENST00000320610:exon10:c.C1419G:p.G473G;	4.07495006635893E-5	0.014
18	74606970	C	T	18	76895014	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon10:c.C1413T:p.G471G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.C1413T:p.G471G;ENSG00000130856:ENST00000543926:exon10:c.C1413T:p.G471G;ENSG00000130856:ENST00000320610:exon10:c.C1419T:p.G473G;	1.69659980986143E-5	0.006
18	74607239	C	A	18	76895283	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon10:c.C1682A:p.T561K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.C1682A:p.T561K;ENSG00000130856:ENST00000543926:exon10:c.C1682A:p.T561K;ENSG00000130856:ENST00000320610:exon10:c.C1688A:p.T563K;	0.956085562912029	0.824
18	74607239	C	G	18	76895283	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon10:c.C1682G:p.T561R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.C1682G:p.T561R;ENSG00000130856:ENST00000543926:exon10:c.C1682G:p.T561R;ENSG00000130856:ENST00000320610:exon10:c.C1688G:p.T563R;	0.851738682618874	0.588
18	74607239	C	T	18	76895283	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon10:c.C1682T:p.T561I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.C1682T:p.T561I;ENSG00000130856:ENST00000543926:exon10:c.C1682T:p.T561I;ENSG00000130856:ENST00000320610:exon10:c.C1688T:p.T563I;	0.996729502683308	0.938
18	74607240	A	C	18	76895284	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon10:c.A1683C:p.T561T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.A1683C:p.T561T;ENSG00000130856:ENST00000543926:exon10:c.A1683C:p.T561T;ENSG00000130856:ENST00000320610:exon10:c.A1689C:p.T563T;	0.150979433612135	0.494
18	74607240	A	G	18	76895284	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon10:c.A1683G:p.T561T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.A1683G:p.T561T;ENSG00000130856:ENST00000543926:exon10:c.A1683G:p.T561T;ENSG00000130856:ENST00000320610:exon10:c.A1689G:p.T563T;	0.495072499440461	0.438
18	74607240	A	T	18	76895284	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon10:c.A1683T:p.T561T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.A1683T:p.T561T;ENSG00000130856:ENST00000543926:exon10:c.A1683T:p.T561T;ENSG00000130856:ENST00000320610:exon10:c.A1689T:p.T563T;	0.840816596907159	0.654
18	74607241	G	A	18	76895285	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon10:c.G1684A:p.G562R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.G1684A:p.G562R;ENSG00000130856:ENST00000543926:exon10:c.G1684A:p.G562R;ENSG00000130856:ENST00000320610:exon10:c.G1690A:p.G564R;	0.999988452793138	1.0
18	74607241	G	C	18	76895285	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon10:c.G1684C:p.G562R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon10:c.G1684C:p.G562R;ENSG00000130856:ENST00000543926:exon10:c.G1684C:p.G562R;ENSG00000130856:ENST00000320610:exon10:c.G1690C:p.G564R;	0.999996849704514	0.998
18	74607241	G	T	18	76895285	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon10:c.G1684T:p.G562X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon10:c.G1684T:p.G562X;ENSG00000130856:ENST00000543926:exon10:c.G1684T:p.G562X;ENSG00000130856:ENST00000320610:exon10:c.G1690T:p.G564X;	0.999981883442092	0.98
18	74607242	G	A	18	76895286	y	y	splicing	ZNF236(NM_007345:exon10:c.1684+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1690+1G>A;ENST00000253159:exon10:c.1684+1G>A;ENST00000543926:exon10:c.1684+1G>A)	.	.	0.999986675681007	0.934
18	74607242	G	C	18	76895286	y	y	splicing	ZNF236(NM_007345:exon10:c.1684+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1690+1G>C;ENST00000253159:exon10:c.1684+1G>C;ENST00000543926:exon10:c.1684+1G>C)	.	.	0.999986675681007	0.934
18	74607242	G	T	18	76895286	y	y	splicing	ZNF236(NM_007345:exon10:c.1684+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1690+1G>T;ENST00000253159:exon10:c.1684+1G>T;ENST00000543926:exon10:c.1684+1G>T)	.	.	0.999986675681007	0.934
18	74607243	T	A	18	76895287	y	y	splicing	ZNF236(NM_007345:exon10:c.1684+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1690+2T>A;ENST00000253159:exon10:c.1684+2T>A;ENST00000543926:exon10:c.1684+2T>A)	.	.	0.999989917668626	0.928
18	74607243	T	C	18	76895287	y	y	splicing	ZNF236(NM_007345:exon10:c.1684+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1690+2T>C;ENST00000253159:exon10:c.1684+2T>C;ENST00000543926:exon10:c.1684+2T>C)	.	.	0.991781671885672	0.606
18	74607243	T	G	18	76895287	y	y	splicing	ZNF236(NM_007345:exon10:c.1684+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon10:c.1690+2T>G;ENST00000253159:exon10:c.1684+2T>G;ENST00000543926:exon10:c.1684+2T>G)	.	.	0.999989917668626	0.926
18	74607244	A	C	18	76895288	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.848202258365373	0.482
18	74607244	A	G	18	76895288	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.357478776846056	0.44
18	74607244	A	T	18	76895288	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.875781606474393	0.46
18	74607245	T	A	18	76895289	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.81404965042615E-5	0.008
18	74607245	T	C	18	76895289	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.54446213581622E-4	0.004
18	74607245	T	G	18	76895289	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.11018382421262E-4	0.0
18	74607246	G	A	18	76895290	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.416216877148427	0.514
18	74607246	G	C	18	76895290	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.7078321405893	0.61
18	74607246	G	T	18	76895290	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.720177934068877	0.538
18	74607247	G	A	18	76895291	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.70582608182765E-5	0.002
18	74607247	G	C	18	76895291	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.29082710314338E-5	0.0
18	74607247	G	T	18	76895291	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.99527500433381E-5	0.0
18	74607248	C	A	18	76895292	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.0680089989629E-5	0.05
18	74607248	C	G	18	76895292	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.4965649877051E-5	0.002
18	74607248	C	T	18	76895292	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.70826976434769E-5	0.0
18	74607249	C	A	18	76895293	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.54622002123026E-4	0.0
18	74607249	C	G	18	76895293	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40096824434969E-4	0.0
18	74607249	C	T	18	76895293	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.12456512548265E-4	0.0
18	74610963	C	A	18	76899007	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.76505665801406E-4	0.092
18	74610963	C	G	18	76899007	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.63371615797212E-4	0.066
18	74610963	C	T	18	76899007	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.01630313826092E-5	0.024
18	74610964	A	C	18	76899008	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.63352250329722E-5	0.028
18	74610964	A	G	18	76899008	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.64094947010662E-5	0.038
18	74610964	A	T	18	76899008	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.17903770906599E-5	0.046
18	74610965	T	A	18	76899009	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.936523159026862	0.79
18	74610965	T	C	18	76899009	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0312912336829768	0.158
18	74610965	T	G	18	76899009	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999957794165396	0.96
18	74610966	T	A	18	76899010	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.947768389952825	0.616
18	74610966	T	C	18	76899010	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00158659474416599	0.09
18	74610966	T	G	18	76899010	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.657123162784465	0.604
18	74610967	T	A	18	76899011	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0760465329661697	0.248
18	74610967	T	C	18	76899011	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.43676946666724E-5	0.0
18	74610967	T	G	18	76899011	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00529336679444792	0.192
18	74610968	T	A	18	76899012	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0802795675199215	0.212
18	74610968	T	C	18	76899012	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.7089278984439E-4	0.11
18	74610968	T	G	18	76899012	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0845618033029672	0.174
18	74610969	T	A	18	76899013	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0299028707103917	0.342
18	74610969	T	C	18	76899013	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.92845028594149E-5	0.002
18	74610969	T	G	18	76899013	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00742120950623574	0.32
18	74610970	A	C	18	76899014	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.57226574301123E-5	0.002
18	74610970	A	G	18	76899014	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.04328067495599E-4	0.03
18	74610970	A	T	18	76899014	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.14645273293215E-5	0.016
18	74610971	T	A	18	76899015	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0120910953456369	0.05
18	74610971	T	C	18	76899015	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00317778508315214	0.016
18	74610971	T	G	18	76899015	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998919185867118	0.86
18	74610972	T	A	18	76899016	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0126340770701559	0.25
18	74610972	T	C	18	76899016	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.271655899765E-5	0.024
18	74610972	T	G	18	76899016	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.986584635067481	0.686
18	74610973	A	C	18	76899017	y	y	splicing	ZNF236(NM_007345:exon11:c.1685-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1691-2A>C;ENST00000253159:exon11:c.1685-2A>C;ENST00000543926:exon11:c.1685-2A>C)	.	.	0.999989917668626	0.926
18	74610973	A	G	18	76899017	y	y	splicing	ZNF236(NM_007345:exon11:c.1685-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1691-2A>G;ENST00000253159:exon11:c.1685-2A>G;ENST00000543926:exon11:c.1685-2A>G)	.	.	0.999989917668626	0.926
18	74610973	A	T	18	76899017	y	y	splicing	ZNF236(NM_007345:exon11:c.1685-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1691-2A>T;ENST00000253159:exon11:c.1685-2A>T;ENST00000543926:exon11:c.1685-2A>T)	.	.	0.999989917668626	0.926
18	74610974	G	A	18	76899018	y	y	splicing	ZNF236(NM_007345:exon11:c.1685-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1691-1G>A;ENST00000253159:exon11:c.1685-1G>A;ENST00000543926:exon11:c.1685-1G>A)	.	.	0.999986675681007	0.936
18	74610974	G	C	18	76899018	y	y	splicing	ZNF236(NM_007345:exon11:c.1685-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1691-1G>C;ENST00000253159:exon11:c.1685-1G>C;ENST00000543926:exon11:c.1685-1G>C)	.	.	0.999986675681007	0.936
18	74610974	G	T	18	76899018	y	y	splicing	ZNF236(NM_007345:exon11:c.1685-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1691-1G>T;ENST00000253159:exon11:c.1685-1G>T;ENST00000543926:exon11:c.1685-1G>T)	.	.	0.999986675681007	0.936
18	74610975	G	A	18	76899019	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.G1685A:p.G562E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.G1685A:p.G562E;ENSG00000130856:ENST00000543926:exon11:c.G1685A:p.G562E;ENSG00000130856:ENST00000320610:exon11:c.G1691A:p.G564E;	0.999671280804902	0.884
18	74610975	G	C	18	76899019	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.G1685C:p.G562A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.G1685C:p.G562A;ENSG00000130856:ENST00000543926:exon11:c.G1685C:p.G562A;ENSG00000130856:ENST00000320610:exon11:c.G1691C:p.G564A;	0.999926651348946	0.978
18	74610975	G	T	18	76899019	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.G1685T:p.G562V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.G1685T:p.G562V;ENSG00000130856:ENST00000543926:exon11:c.G1685T:p.G562V;ENSG00000130856:ENST00000320610:exon11:c.G1691T:p.G564V;	0.999968074507448	0.986
18	74610976	A	C	18	76899020	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon11:c.A1686C:p.G562G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.A1686C:p.G562G;ENSG00000130856:ENST00000543926:exon11:c.A1686C:p.G562G;ENSG00000130856:ENST00000320610:exon11:c.A1692C:p.G564G;	1.62197818173385E-4	0.008
18	74610976	A	G	18	76899020	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon11:c.A1686G:p.G562G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.A1686G:p.G562G;ENSG00000130856:ENST00000543926:exon11:c.A1686G:p.G562G;ENSG00000130856:ENST00000320610:exon11:c.A1692G:p.G564G;	1.32442650102689E-4	0.014
18	74610976	A	T	18	76899020	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon11:c.A1686T:p.G562G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.A1686T:p.G562G;ENSG00000130856:ENST00000543926:exon11:c.A1686T:p.G562G;ENSG00000130856:ENST00000320610:exon11:c.A1692T:p.G564G;	6.98831453899643E-5	0.0
18	74611176	T	A	18	76899220	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon11:c.T1886A:p.L629X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon11:c.T1886A:p.L629X;ENSG00000130856:ENST00000543926:exon11:c.T1886A:p.L629X;ENSG00000130856:ENST00000320610:exon11:c.T1892A:p.L631X;	0.548160343172923	0.756
18	74611176	T	C	18	76899220	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.T1886C:p.L629S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.T1886C:p.L629S;ENSG00000130856:ENST00000543926:exon11:c.T1886C:p.L629S;ENSG00000130856:ENST00000320610:exon11:c.T1892C:p.L631S;	7.90825180271785E-4	0.032
18	74611176	T	G	18	76899220	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon11:c.T1886G:p.L629X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon11:c.T1886G:p.L629X;ENSG00000130856:ENST00000543926:exon11:c.T1886G:p.L629X;ENSG00000130856:ENST00000320610:exon11:c.T1892G:p.L631X;	0.657614190092309	0.81
18	74611177	A	C	18	76899221	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.A1887C:p.L629F;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.A1887C:p.L629F;ENSG00000130856:ENST00000543926:exon11:c.A1887C:p.L629F;ENSG00000130856:ENST00000320610:exon11:c.A1893C:p.L631F;	0.0374335491457982	0.424
18	74611177	A	G	18	76899221	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon11:c.A1887G:p.L629L;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.A1887G:p.L629L;ENSG00000130856:ENST00000543926:exon11:c.A1887G:p.L629L;ENSG00000130856:ENST00000320610:exon11:c.A1893G:p.L631L;	0.0721896997205355	0.396
18	74611177	A	T	18	76899221	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.A1887T:p.L629F;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.A1887T:p.L629F;ENSG00000130856:ENST00000543926:exon11:c.A1887T:p.L629F;ENSG00000130856:ENST00000320610:exon11:c.A1893T:p.L631F;	0.0531047235388485	0.486
18	74611178	G	A	18	76899222	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.G1888A:p.G630S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.G1888A:p.G630S;ENSG00000130856:ENST00000543926:exon11:c.G1888A:p.G630S;ENSG00000130856:ENST00000320610:exon11:c.G1894A:p.G632S;	0.999976405970778	0.996
18	74611178	G	C	18	76899222	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.G1888C:p.G630R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.G1888C:p.G630R;ENSG00000130856:ENST00000543926:exon11:c.G1888C:p.G630R;ENSG00000130856:ENST00000320610:exon11:c.G1894C:p.G632R;	0.999991132438066	0.988
18	74611178	G	T	18	76899222	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon11:c.G1888T:p.G630C;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon11:c.G1888T:p.G630C;ENSG00000130856:ENST00000543926:exon11:c.G1888T:p.G630C;ENSG00000130856:ENST00000320610:exon11:c.G1894T:p.G632C;	0.999985167772898	0.996
18	74611179	G	A	18	76899223	y	y	splicing	ZNF236(NM_007345:exon11:c.1888+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1894+1G>A;ENST00000253159:exon11:c.1888+1G>A;ENST00000543926:exon11:c.1888+1G>A)	.	.	0.999986675681007	0.94
18	74611179	G	C	18	76899223	y	y	splicing	ZNF236(NM_007345:exon11:c.1888+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1894+1G>C;ENST00000253159:exon11:c.1888+1G>C;ENST00000543926:exon11:c.1888+1G>C)	.	.	0.999986675681007	0.94
18	74611179	G	T	18	76899223	y	y	splicing	ZNF236(NM_007345:exon11:c.1888+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1894+1G>T;ENST00000253159:exon11:c.1888+1G>T;ENST00000543926:exon11:c.1888+1G>T)	.	.	0.999986675681007	0.94
18	74611180	T	A	18	76899224	y	y	splicing	ZNF236(NM_007345:exon11:c.1888+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1894+2T>A;ENST00000253159:exon11:c.1888+2T>A;ENST00000543926:exon11:c.1888+2T>A)	.	.	0.999986903042585	0.924
18	74611180	T	C	18	76899224	y	y	splicing	ZNF236(NM_007345:exon11:c.1888+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1894+2T>C;ENST00000253159:exon11:c.1888+2T>C;ENST00000543926:exon11:c.1888+2T>C)	.	.	0.998527501145632	0.656
18	74611180	T	G	18	76899224	y	y	splicing	ZNF236(NM_007345:exon11:c.1888+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon11:c.1894+2T>G;ENST00000253159:exon11:c.1888+2T>G;ENST00000543926:exon11:c.1888+2T>G)	.	.	0.999986903042585	0.926
18	74611181	A	C	18	76899225	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.969739109659745	0.588
18	74611181	A	G	18	76899225	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0156281899543522	0.198
18	74611181	A	T	18	76899225	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.986495314529448	0.65
18	74611182	A	C	18	76899226	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.364271158483035	0.488
18	74611182	A	G	18	76899226	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.513735367162528	0.45
18	74611182	A	T	18	76899226	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.269824851406177	0.436
18	74611183	G	A	18	76899227	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.990041315400961	0.896
18	74611183	G	C	18	76899227	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.942424526229674	0.82
18	74611183	G	T	18	76899227	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.934783454658907	0.676
18	74611184	A	C	18	76899228	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.72840374967608E-4	0.014
18	74611184	A	G	18	76899228	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.21208143129147E-5	0.0
18	74611184	A	T	18	76899228	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.4758482555451E-5	0.026
18	74611185	T	A	18	76899229	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.19310584675344E-5	0.0
18	74611185	T	C	18	76899229	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.19310584675344E-5	0.0
18	74611185	T	G	18	76899229	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.19310584675344E-5	0.0
18	74611186	G	A	18	76899230	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.34855971581928E-5	0.002
18	74611186	G	C	18	76899230	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.5732183902016E-5	0.0
18	74611186	G	T	18	76899230	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.5732183902016E-5	0.002
18	74616324	T	A	18	76904368	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.26229232143279E-4	0.154
18	74616324	T	C	18	76904368	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.62654224456041E-4	0.018
18	74616324	T	G	18	76904368	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.4474214862033E-4	0.2
18	74616325	T	A	18	76904369	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00266716589462772	0.248
18	74616325	T	C	18	76904369	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00136011205933219	0.06
18	74616325	T	G	18	76904369	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.7631523944466E-4	0.164
18	74616326	T	A	18	76904370	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997866853562987	0.89
18	74616326	T	C	18	76904370	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.57285533122645E-5	0.014
18	74616326	T	G	18	76904370	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.84779696094439E-4	0.098
18	74616327	G	A	18	76904371	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.30640007526225E-4	0.048
18	74616327	G	C	18	76904371	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.00903536249511E-5	0.002
18	74616327	G	T	18	76904371	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.24016678807687E-5	0.01
18	74616328	C	A	18	76904372	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.53115698967653E-5	0.002
18	74616328	C	G	18	76904372	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.75955930968638E-5	0.008
18	74616328	C	T	18	76904372	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.70222000705901E-5	0.002
18	74616329	T	A	18	76904373	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.51392106168671E-4	0.03
18	74616329	T	C	18	76904373	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.07124156652522E-5	0.004
18	74616329	T	G	18	76904373	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.62488987543254E-4	0.026
18	74616330	T	A	18	76904374	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00221424708901188	0.158
18	74616330	T	C	18	76904374	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.6626028070923E-4	0.006
18	74616330	T	G	18	76904374	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00149481378788086	0.198
18	74616331	T	A	18	76904375	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998210992079146	0.876
18	74616331	T	C	18	76904375	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.75252389357096E-4	0.01
18	74616331	T	G	18	76904375	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.77509283208309E-4	0.134
18	74616332	G	A	18	76904376	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.09218706544067E-5	0.0
18	74616332	G	C	18	76904376	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.14832471064693E-5	0.0
18	74616332	G	T	18	76904376	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.05571402128096E-5	0.0
18	74616333	T	A	18	76904377	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0168432480538579	0.09
18	74616333	T	C	18	76904377	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.28540386202061E-4	0.008
18	74616333	T	G	18	76904377	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999619900105655	0.688
18	74616334	A	C	18	76904378	y	y	splicing	ZNF236(NM_007345:exon12:c.1889-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.1895-2A>C;ENST00000253159:exon12:c.1889-2A>C;ENST00000543926:exon12:c.1889-2A>C)	.	.	0.999988247793601	0.928
18	74616334	A	G	18	76904378	y	y	splicing	ZNF236(NM_007345:exon12:c.1889-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.1895-2A>G;ENST00000253159:exon12:c.1889-2A>G;ENST00000543926:exon12:c.1889-2A>G)	.	.	0.999988247793601	0.928
18	74616334	A	T	18	76904378	y	y	splicing	ZNF236(NM_007345:exon12:c.1889-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.1895-2A>T;ENST00000253159:exon12:c.1889-2A>T;ENST00000543926:exon12:c.1889-2A>T)	.	.	0.999988247793601	0.928
18	74616335	G	A	18	76904379	y	y	splicing	ZNF236(NM_007345:exon12:c.1889-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.1895-1G>A;ENST00000253159:exon12:c.1889-1G>A;ENST00000543926:exon12:c.1889-1G>A)	.	.	0.999986675681007	0.932
18	74616335	G	C	18	76904379	y	y	splicing	ZNF236(NM_007345:exon12:c.1889-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.1895-1G>C;ENST00000253159:exon12:c.1889-1G>C;ENST00000543926:exon12:c.1889-1G>C)	.	.	0.999986675681007	0.932
18	74616335	G	T	18	76904379	y	y	splicing	ZNF236(NM_007345:exon12:c.1889-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.1895-1G>T;ENST00000253159:exon12:c.1889-1G>T;ENST00000543926:exon12:c.1889-1G>T)	.	.	0.999986675681007	0.932
18	74616336	G	A	18	76904380	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon12:c.G1889A:p.G630D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.G1889A:p.G630D;ENSG00000130856:ENST00000543926:exon12:c.G1889A:p.G630D;ENSG00000130856:ENST00000320610:exon12:c.G1895A:p.G632D;	0.994906482202145	0.744
18	74616336	G	C	18	76904380	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon12:c.G1889C:p.G630A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.G1889C:p.G630A;ENSG00000130856:ENST00000543926:exon12:c.G1889C:p.G630A;ENSG00000130856:ENST00000320610:exon12:c.G1895C:p.G632A;	0.998091323769624	0.806
18	74616336	G	T	18	76904380	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon12:c.G1889T:p.G630V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.G1889T:p.G630V;ENSG00000130856:ENST00000543926:exon12:c.G1889T:p.G630V;ENSG00000130856:ENST00000320610:exon12:c.G1895T:p.G632V;	0.998342062667888	0.82
18	74616337	T	A	18	76904381	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon12:c.T1890A:p.G630G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.T1890A:p.G630G;ENSG00000130856:ENST00000543926:exon12:c.T1890A:p.G630G;ENSG00000130856:ENST00000320610:exon12:c.T1896A:p.G632G;	8.47598096958643E-4	0.002
18	74616337	T	C	18	76904381	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon12:c.T1890C:p.G630G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.T1890C:p.G630G;ENSG00000130856:ENST00000543926:exon12:c.T1890C:p.G630G;ENSG00000130856:ENST00000320610:exon12:c.T1896C:p.G632G;	0.00142256051048629	0.044
18	74616337	T	G	18	76904381	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon12:c.T1890G:p.G630G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.T1890G:p.G630G;ENSG00000130856:ENST00000543926:exon12:c.T1890G:p.G630G;ENSG00000130856:ENST00000320610:exon12:c.T1896G:p.G632G;	0.00142256051048629	0.012
18	74616475	C	A	18	76904519	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon12:c.C2028A:p.I676I;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.C2028A:p.I676I;ENSG00000130856:ENST00000543926:exon12:c.C2028A:p.I676I;ENSG00000130856:ENST00000320610:exon12:c.C2034A:p.I678I;	0.00104237120044434	0.206
18	74616475	C	G	18	76904519	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon12:c.C2028G:p.I676M;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.C2028G:p.I676M;ENSG00000130856:ENST00000543926:exon12:c.C2028G:p.I676M;ENSG00000130856:ENST00000320610:exon12:c.C2034G:p.I678M;	0.00341778575401269	0.23
18	74616475	C	T	18	76904519	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon12:c.C2028T:p.I676I;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.C2028T:p.I676I;ENSG00000130856:ENST00000543926:exon12:c.C2028T:p.I676I;ENSG00000130856:ENST00000320610:exon12:c.C2034T:p.I678I;	0.0273026779954824	0.232
18	74616476	A	C	18	76904520	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon12:c.A2029C:p.R677R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.A2029C:p.R677R;ENSG00000130856:ENST00000543926:exon12:c.A2029C:p.R677R;ENSG00000130856:ENST00000320610:exon12:c.A2035C:p.R679R;	0.971534118687693	0.756
18	74616476	A	G	18	76904520	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon12:c.A2029G:p.R677G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.A2029G:p.R677G;ENSG00000130856:ENST00000543926:exon12:c.A2029G:p.R677G;ENSG00000130856:ENST00000320610:exon12:c.A2035G:p.R679G;	0.995318041668481	0.904
18	74616476	A	T	18	76904520	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon12:c.A2029T:p.R677X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon12:c.A2029T:p.R677X;ENSG00000130856:ENST00000543926:exon12:c.A2029T:p.R677X;ENSG00000130856:ENST00000320610:exon12:c.A2035T:p.R679X;	0.989103300177256	0.438
18	74616477	G	A	18	76904521	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon12:c.G2030A:p.R677K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.G2030A:p.R677K;ENSG00000130856:ENST00000543926:exon12:c.G2030A:p.R677K;ENSG00000130856:ENST00000320610:exon12:c.G2036A:p.R679K;	0.999925327609198	0.982
18	74616477	G	C	18	76904521	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon12:c.G2030C:p.R677T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.G2030C:p.R677T;ENSG00000130856:ENST00000543926:exon12:c.G2030C:p.R677T;ENSG00000130856:ENST00000320610:exon12:c.G2036C:p.R679T;	0.999970363694936	0.97
18	74616477	G	T	18	76904521	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon12:c.G2030T:p.R677I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon12:c.G2030T:p.R677I;ENSG00000130856:ENST00000543926:exon12:c.G2030T:p.R677I;ENSG00000130856:ENST00000320610:exon12:c.G2036T:p.R679I;	0.999888894749535	0.978
18	74616478	G	A	18	76904522	y	y	splicing	ZNF236(NM_007345:exon12:c.2030+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.2036+1G>A;ENST00000253159:exon12:c.2030+1G>A;ENST00000543926:exon12:c.2030+1G>A)	.	.	0.999989072007339	0.934
18	74616478	G	C	18	76904522	y	y	splicing	ZNF236(NM_007345:exon12:c.2030+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.2036+1G>C;ENST00000253159:exon12:c.2030+1G>C;ENST00000543926:exon12:c.2030+1G>C)	.	.	0.999989072007339	0.934
18	74616478	G	T	18	76904522	y	y	splicing	ZNF236(NM_007345:exon12:c.2030+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.2036+1G>T;ENST00000253159:exon12:c.2030+1G>T;ENST00000543926:exon12:c.2030+1G>T)	.	.	0.999989072007339	0.934
18	74616479	T	A	18	76904523	y	y	splicing	ZNF236(NM_007345:exon12:c.2030+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.2036+2T>A;ENST00000253159:exon12:c.2030+2T>A;ENST00000543926:exon12:c.2030+2T>A)	.	.	0.999988247793601	0.93
18	74616479	T	C	18	76904523	y	y	splicing	ZNF236(NM_007345:exon12:c.2030+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.2036+2T>C;ENST00000253159:exon12:c.2030+2T>C;ENST00000543926:exon12:c.2030+2T>C)	.	.	0.992054276455321	0.636
18	74616479	T	G	18	76904523	y	y	splicing	ZNF236(NM_007345:exon12:c.2030+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon12:c.2036+2T>G;ENST00000253159:exon12:c.2030+2T>G;ENST00000543926:exon12:c.2030+2T>G)	.	.	0.999988247793601	0.93
18	74616480	A	C	18	76904524	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997767127002456	0.942
18	74616480	A	G	18	76904524	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.311372276892087	0.316
18	74616480	A	T	18	76904524	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997640591032964	0.954
18	74616481	A	C	18	76904525	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.805903037587553	0.602
18	74616481	A	G	18	76904525	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.923046447387664	0.638
18	74616481	A	T	18	76904525	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.925847457325108	0.674
18	74616482	G	A	18	76904526	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.977884570364463	0.68
18	74616482	G	C	18	76904526	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.858352885510421	0.518
18	74616482	G	T	18	76904526	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.969976025464369	0.62
18	74616483	G	A	18	76904527	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.57723313700857E-5	0.026
18	74616483	G	C	18	76904527	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.02084640128573E-4	0.016
18	74616483	G	T	18	76904527	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40466882551175E-5	0.0
18	74616484	T	A	18	76904528	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.59706358747764E-5	0.0
18	74616484	T	C	18	76904528	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.59706358747764E-5	0.0
18	74616484	T	G	18	76904528	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.59706358747764E-5	0.0
18	74616485	A	C	18	76904529	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.20590404879984E-5	0.002
18	74616485	A	G	18	76904529	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.05714549836922E-5	0.0
18	74616485	A	T	18	76904529	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.05714549836922E-5	0.0
18	74617099	T	A	18	76905143	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00470655354759943	0.04
18	74617099	T	C	18	76905143	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.52025963628797E-4	0.0
18	74617099	T	G	18	76905143	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999773509993126	0.978
18	74617100	T	A	18	76905144	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00144163822801765	0.136
18	74617100	T	C	18	76905144	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.25186348073646E-5	0.022
18	74617100	T	G	18	76905144	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00201868955734975	0.12
18	74617101	T	A	18	76905145	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.43738984435653E-4	0.098
18	74617101	T	C	18	76905145	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.20695813881703E-4	0.014
18	74617101	T	G	18	76905145	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.9169637567145E-4	0.09
18	74617102	T	A	18	76905146	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.85303039124782E-4	0.052
18	74617102	T	C	18	76905146	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.83329568418515E-5	0.022
18	74617102	T	G	18	76905146	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.15720409125823E-4	0.068
18	74617103	T	A	18	76905147	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.76007492639425E-4	0.038
18	74617103	T	C	18	76905147	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.294943230597E-5	0.0
18	74617103	T	G	18	76905147	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.10345631089742E-4	0.034
18	74617104	T	A	18	76905148	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.53835634019838E-4	0.08
18	74617104	T	C	18	76905148	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.06589806987525E-5	0.008
18	74617104	T	G	18	76905148	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.02657908405119E-4	0.064
18	74617105	T	A	18	76905149	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0127793769996625	0.214
18	74617105	T	C	18	76905149	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.36943647183072E-4	0.04
18	74617105	T	G	18	76905149	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0116005590127532	0.338
18	74617106	T	A	18	76905150	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00306711553525078	0.23
18	74617106	T	C	18	76905150	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.67906504025431E-4	0.066
18	74617106	T	G	18	76905150	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00433392859786543	0.284
18	74617107	T	A	18	76905151	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.08513158261255E-4	0.008
18	74617107	T	C	18	76905151	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.73860164384865E-4	0.002
18	74617107	T	G	18	76905151	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00104307986631681	0.112
18	74617108	A	C	18	76905152	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.85600285445237E-5	0.028
18	74617108	A	G	18	76905152	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0603089390853113	0.45
18	74617108	A	T	18	76905152	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.65047354028333E-5	0.002
18	74617109	A	C	18	76905153	y	y	splicing	ZNF236(NM_007345:exon13:c.2031-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2037-2A>C;ENST00000253159:exon13:c.2031-2A>C;ENST00000543926:exon13:c.2031-2A>C)	.	.	0.999778405747524	0.762
18	74617109	A	G	18	76905153	y	y	splicing	ZNF236(NM_007345:exon13:c.2031-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2037-2A>G;ENST00000253159:exon13:c.2031-2A>G;ENST00000543926:exon13:c.2031-2A>G)	.	.	0.999778405747524	0.77
18	74617109	A	T	18	76905153	y	y	splicing	ZNF236(NM_007345:exon13:c.2031-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2037-2A>T;ENST00000253159:exon13:c.2031-2A>T;ENST00000543926:exon13:c.2031-2A>T)	.	.	0.999778405747524	0.788
18	74617110	G	A	18	76905154	y	y	splicing	ZNF236(NM_007345:exon13:c.2031-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2037-1G>A;ENST00000253159:exon13:c.2031-1G>A;ENST00000543926:exon13:c.2031-1G>A)	.	.	0.999936343976534	0.916
18	74617110	G	C	18	76905154	y	y	splicing	ZNF236(NM_007345:exon13:c.2031-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2037-1G>C;ENST00000253159:exon13:c.2031-1G>C;ENST00000543926:exon13:c.2031-1G>C)	.	.	0.999936343976534	0.922
18	74617110	G	T	18	76905154	y	y	splicing	ZNF236(NM_007345:exon13:c.2031-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2037-1G>T;ENST00000253159:exon13:c.2031-1G>T;ENST00000543926:exon13:c.2031-1G>T)	.	.	0.999936343976534	0.922
18	74617111	A	C	18	76905155	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.A2031C:p.R677S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.A2031C:p.R677S;ENSG00000130856:ENST00000543926:exon13:c.A2031C:p.R677S;ENSG00000130856:ENST00000320610:exon13:c.A2037C:p.R679S;	1.26587249202434E-4	0.148
18	74617111	A	G	18	76905155	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon13:c.A2031G:p.R677R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.A2031G:p.R677R;ENSG00000130856:ENST00000543926:exon13:c.A2031G:p.R677R;ENSG00000130856:ENST00000320610:exon13:c.A2037G:p.R679R;	1.250243698046E-5	0.0
18	74617111	A	T	18	76905155	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.A2031T:p.R677S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.A2031T:p.R677S;ENSG00000130856:ENST00000543926:exon13:c.A2031T:p.R677S;ENSG00000130856:ENST00000320610:exon13:c.A2037T:p.R679S;	6.22870919686098E-5	0.138
18	74617112	T	A	18	76905156	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.T2032A:p.S678T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.T2032A:p.S678T;ENSG00000130856:ENST00000543926:exon13:c.T2032A:p.S678T;ENSG00000130856:ENST00000320610:exon13:c.T2038A:p.S680T;	0.525114122767961	0.354
18	74617112	T	C	18	76905156	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.T2032C:p.S678P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.T2032C:p.S678P;ENSG00000130856:ENST00000543926:exon13:c.T2032C:p.S678P;ENSG00000130856:ENST00000320610:exon13:c.T2038C:p.S680P;	0.639067362225931	0.512
18	74617112	T	G	18	76905156	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.T2032G:p.S678A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.T2032G:p.S678A;ENSG00000130856:ENST00000543926:exon13:c.T2032G:p.S678A;ENSG00000130856:ENST00000320610:exon13:c.T2038G:p.S680A;	0.604166450355845	0.484
18	74617369	C	A	18	76905413	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.C2289A:p.H763Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.C2289A:p.H763Q;ENSG00000130856:ENST00000543926:exon13:c.C2289A:p.H763Q;ENSG00000130856:ENST00000320610:exon13:c.C2295A:p.H765Q;	8.36122986987336E-6	0.114
18	74617369	C	G	18	76905413	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.C2289G:p.H763Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.C2289G:p.H763Q;ENSG00000130856:ENST00000543926:exon13:c.C2289G:p.H763Q;ENSG00000130856:ENST00000320610:exon13:c.C2295G:p.H765Q;	2.28011316571109E-5	0.144
18	74617369	C	T	18	76905413	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon13:c.C2289T:p.H763H;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.C2289T:p.H763H;ENSG00000130856:ENST00000543926:exon13:c.C2289T:p.H763H;ENSG00000130856:ENST00000320610:exon13:c.C2295T:p.H765H;	0.0233149896102533	0.256
18	74617370	A	C	18	76905414	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon13:c.A2290C:p.R764R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.A2290C:p.R764R;ENSG00000130856:ENST00000543926:exon13:c.A2290C:p.R764R;ENSG00000130856:ENST00000320610:exon13:c.A2296C:p.R766R;	0.892860950061637	0.832
18	74617370	A	G	18	76905414	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.A2290G:p.R764G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.A2290G:p.R764G;ENSG00000130856:ENST00000543926:exon13:c.A2290G:p.R764G;ENSG00000130856:ENST00000320610:exon13:c.A2296G:p.R766G;	0.999179802423265	0.954
18	74617370	A	T	18	76905414	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon13:c.A2290T:p.R764X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon13:c.A2290T:p.R764X;ENSG00000130856:ENST00000543926:exon13:c.A2290T:p.R764X;ENSG00000130856:ENST00000320610:exon13:c.A2296T:p.R766X;	0.999359754949671	0.938
18	74617371	G	A	18	76905415	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.G2291A:p.R764K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.G2291A:p.R764K;ENSG00000130856:ENST00000543926:exon13:c.G2291A:p.R764K;ENSG00000130856:ENST00000320610:exon13:c.G2297A:p.R766K;	0.99996173072519	0.99
18	74617371	G	C	18	76905415	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.G2291C:p.R764T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.G2291C:p.R764T;ENSG00000130856:ENST00000543926:exon13:c.G2291C:p.R764T;ENSG00000130856:ENST00000320610:exon13:c.G2297C:p.R766T;	0.999996089225011	0.994
18	74617371	G	T	18	76905415	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon13:c.G2291T:p.R764I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon13:c.G2291T:p.R764I;ENSG00000130856:ENST00000543926:exon13:c.G2291T:p.R764I;ENSG00000130856:ENST00000320610:exon13:c.G2297T:p.R766I;	0.999992263943878	0.988
18	74617372	G	A	18	76905416	y	y	splicing	ZNF236(NM_007345:exon13:c.2291+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2297+1G>A;ENST00000253159:exon13:c.2291+1G>A;ENST00000543926:exon13:c.2291+1G>A)	.	.	0.999988247793601	0.924
18	74617372	G	C	18	76905416	y	y	splicing	ZNF236(NM_007345:exon13:c.2291+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2297+1G>C;ENST00000253159:exon13:c.2291+1G>C;ENST00000543926:exon13:c.2291+1G>C)	.	.	0.999988247793601	0.924
18	74617372	G	T	18	76905416	y	y	splicing	ZNF236(NM_007345:exon13:c.2291+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2297+1G>T;ENST00000253159:exon13:c.2291+1G>T;ENST00000543926:exon13:c.2291+1G>T)	.	.	0.999988247793601	0.924
18	74617373	T	A	18	76905417	y	y	splicing	ZNF236(NM_007345:exon13:c.2291+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2297+2T>A;ENST00000253159:exon13:c.2291+2T>A;ENST00000543926:exon13:c.2291+2T>A)	.	.	0.999992446697775	0.928
18	74617373	T	C	18	76905417	y	y	splicing	ZNF236(NM_007345:exon13:c.2291+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2297+2T>C;ENST00000253159:exon13:c.2291+2T>C;ENST00000543926:exon13:c.2291+2T>C)	.	.	0.999951700573546	0.87
18	74617373	T	G	18	76905417	y	y	splicing	ZNF236(NM_007345:exon13:c.2291+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon13:c.2297+2T>G;ENST00000253159:exon13:c.2291+2T>G;ENST00000543926:exon13:c.2291+2T>G)	.	.	0.999992446697775	0.928
18	74617374	G	A	18	76905418	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.20543378537447E-5	0.048
18	74617374	G	C	18	76905418	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00131077839511477	0.168
18	74617374	G	T	18	76905418	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00180709428033394	0.108
18	74617375	G	A	18	76905419	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.01601849455576E-4	0.098
18	74617375	G	C	18	76905419	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.82874438205045E-5	0.016
18	74617375	G	T	18	76905419	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.80411349331842E-5	0.034
18	74617376	G	A	18	76905420	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994942560684884	0.772
18	74617376	G	C	18	76905420	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99983411979706	0.894
18	74617376	G	T	18	76905420	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997180212045162	0.72
18	74617377	T	A	18	76905421	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00537873582562127	0.144
18	74617377	T	C	18	76905421	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00217150286644547	0.178
18	74617377	T	G	18	76905421	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00208681255462836	0.112
18	74617378	G	A	18	76905422	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.04900693216345E-6	0.0
18	74617378	G	C	18	76905422	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.04900693216345E-6	0.0
18	74617378	G	T	18	76905422	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.55312683788388E-6	0.002
18	74617379	T	A	18	76905423	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.48440237594102E-5	0.0
18	74617379	T	C	18	76905423	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.05307942251884E-5	0.0
18	74617379	T	G	18	76905423	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.19812560260063E-4	0.038
18	74620264	A	C	18	76908308	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.18246523818749E-6	0.0
18	74620264	A	G	18	76908308	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.495478438363403	0.412
18	74620264	A	T	18	76908308	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.67063169148275E-5	0.0
18	74620265	T	A	18	76908309	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.315092259459216	0.444
18	74620265	T	C	18	76908309	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00151251848668186	0.04
18	74620265	T	G	18	76908309	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999453372381067	0.962
18	74620266	T	A	18	76908310	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00560127069879654	0.194
18	74620266	T	C	18	76908310	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.05902507810587E-4	0.028
18	74620266	T	G	18	76908310	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00712598446884787	0.138
18	74620267	T	A	18	76908311	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0426760014577645	0.342
18	74620267	T	C	18	76908311	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00169967664275168	0.08
18	74620267	T	G	18	76908311	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0166054238744075	0.328
18	74620268	T	A	18	76908312	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.129852347419005	0.3
18	74620268	T	C	18	76908312	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.43664043254201E-5	0.01
18	74620268	T	G	18	76908312	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0133961454524901	0.252
18	74620269	T	A	18	76908313	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.143051294998084	0.424
18	74620269	T	C	18	76908313	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.60345294479627E-4	0.042
18	74620269	T	G	18	76908313	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.146453143885504	0.358
18	74620270	C	A	18	76908314	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00852347366683841	0.33
18	74620270	C	G	18	76908314	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00592190528174914	0.302
18	74620270	C	T	18	76908314	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.71940229187533E-5	0.002
18	74620271	T	A	18	76908315	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998660335380873	0.898
18	74620271	T	C	18	76908315	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.73365981148193E-4	0.06
18	74620271	T	G	18	76908315	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.764983753825241	0.382
18	74620272	G	A	18	76908316	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.22381466456295E-5	0.004
18	74620272	G	C	18	76908316	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.03179091207764E-5	0.034
18	74620272	G	T	18	76908316	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.12532658459441E-5	0.002
18	74620273	A	C	18	76908317	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.42251636545408E-4	0.122
18	74620273	A	G	18	76908317	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.367339907730326	0.57
18	74620273	A	T	18	76908317	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.4380233892152E-5	0.032
18	74620274	A	C	18	76908318	y	y	splicing	ZNF236(NM_007345:exon14:c.2292-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2298-2A>C;ENST00000253159:exon14:c.2292-2A>C;ENST00000543926:exon14:c.2292-2A>C)	.	.	0.999962958601995	0.836
18	74620274	A	G	18	76908318	y	y	splicing	ZNF236(NM_007345:exon14:c.2292-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2298-2A>G;ENST00000253159:exon14:c.2292-2A>G;ENST00000543926:exon14:c.2292-2A>G)	.	.	0.999962958601995	0.836
18	74620274	A	T	18	76908318	y	y	splicing	ZNF236(NM_007345:exon14:c.2292-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2298-2A>T;ENST00000253159:exon14:c.2292-2A>T;ENST00000543926:exon14:c.2292-2A>T)	.	.	0.999969255906173	0.84
18	74620275	G	A	18	76908319	y	y	splicing	ZNF236(NM_007345:exon14:c.2292-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2298-1G>A;ENST00000253159:exon14:c.2292-1G>A;ENST00000543926:exon14:c.2292-1G>A)	.	.	0.999965143305126	0.876
18	74620275	G	C	18	76908319	y	y	splicing	ZNF236(NM_007345:exon14:c.2292-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2298-1G>C;ENST00000253159:exon14:c.2292-1G>C;ENST00000543926:exon14:c.2292-1G>C)	.	.	0.999965143305126	0.864
18	74620275	G	T	18	76908319	y	y	splicing	ZNF236(NM_007345:exon14:c.2292-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2298-1G>T;ENST00000253159:exon14:c.2292-1G>T;ENST00000543926:exon14:c.2292-1G>T)	.	.	0.999965143305126	0.874
18	74620276	A	C	18	76908320	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.A2292C:p.R764S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2292C:p.R764S;ENSG00000130856:ENST00000543926:exon14:c.A2292C:p.R764S;ENSG00000130856:ENST00000320610:exon14:c.A2298C:p.R766S;	0.00280151634222628	0.148
18	74620276	A	G	18	76908320	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon14:c.A2292G:p.R764R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2292G:p.R764R;ENSG00000130856:ENST00000543926:exon14:c.A2292G:p.R764R;ENSG00000130856:ENST00000320610:exon14:c.A2298G:p.R766R;	2.02330996021224E-5	0.004
18	74620276	A	T	18	76908320	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.A2292T:p.R764S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2292T:p.R764S;ENSG00000130856:ENST00000543926:exon14:c.A2292T:p.R764S;ENSG00000130856:ENST00000320610:exon14:c.A2298T:p.R766S;	0.00568267955212776	0.202
18	74620277	T	A	18	76908321	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.T2293A:p.Y765N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.T2293A:p.Y765N;ENSG00000130856:ENST00000543926:exon14:c.T2293A:p.Y765N;ENSG00000130856:ENST00000320610:exon14:c.T2299A:p.Y767N;	0.0219226171570683	0.162
18	74620277	T	C	18	76908321	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.T2293C:p.Y765H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.T2293C:p.Y765H;ENSG00000130856:ENST00000543926:exon14:c.T2293C:p.Y765H;ENSG00000130856:ENST00000320610:exon14:c.T2299C:p.Y767H;	0.0430888703663676	0.12
18	74620277	T	G	18	76908321	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.T2293G:p.Y765D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.T2293G:p.Y765D;ENSG00000130856:ENST00000543926:exon14:c.T2293G:p.Y765D;ENSG00000130856:ENST00000320610:exon14:c.T2299G:p.Y767D;	0.129388249077974	0.156
18	74620527	A	C	18	76908571	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.A2543C:p.E848A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2543C:p.E848A;ENSG00000130856:ENST00000543926:exon14:c.A2543C:p.E848A;ENSG00000130856:ENST00000320610:exon14:c.A2549C:p.E850A;	0.392143484611317	0.492
18	74620527	A	G	18	76908571	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.A2543G:p.E848G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2543G:p.E848G;ENSG00000130856:ENST00000543926:exon14:c.A2543G:p.E848G;ENSG00000130856:ENST00000320610:exon14:c.A2549G:p.E850G;	0.0224036339096937	0.31
18	74620527	A	T	18	76908571	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.A2543T:p.E848V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2543T:p.E848V;ENSG00000130856:ENST00000543926:exon14:c.A2543T:p.E848V;ENSG00000130856:ENST00000320610:exon14:c.A2549T:p.E850V;	0.956129098125817	0.59
18	74620528	A	C	18	76908572	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.A2544C:p.E848D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2544C:p.E848D;ENSG00000130856:ENST00000543926:exon14:c.A2544C:p.E848D;ENSG00000130856:ENST00000320610:exon14:c.A2550C:p.E850D;	0.995126513785943	0.826
18	74620528	A	G	18	76908572	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon14:c.A2544G:p.E848E;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2544G:p.E848E;ENSG00000130856:ENST00000543926:exon14:c.A2544G:p.E848E;ENSG00000130856:ENST00000320610:exon14:c.A2550G:p.E850E;	0.865753785054015	0.61
18	74620528	A	T	18	76908572	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.A2544T:p.E848D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.A2544T:p.E848D;ENSG00000130856:ENST00000543926:exon14:c.A2544T:p.E848D;ENSG00000130856:ENST00000320610:exon14:c.A2550T:p.E850D;	0.999703806376736	0.978
18	74620529	G	A	18	76908573	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.G2545A:p.D849N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.G2545A:p.D849N;ENSG00000130856:ENST00000543926:exon14:c.G2545A:p.D849N;ENSG00000130856:ENST00000320610:exon14:c.G2551A:p.D851N;	0.99973070942276	0.964
18	74620529	G	C	18	76908573	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.G2545C:p.D849H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.G2545C:p.D849H;ENSG00000130856:ENST00000543926:exon14:c.G2545C:p.D849H;ENSG00000130856:ENST00000320610:exon14:c.G2551C:p.D851H;	0.999997890243197	1.0
18	74620529	G	T	18	76908573	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon14:c.G2545T:p.D849Y;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon14:c.G2545T:p.D849Y;ENSG00000130856:ENST00000543926:exon14:c.G2545T:p.D849Y;ENSG00000130856:ENST00000320610:exon14:c.G2551T:p.D851Y;	0.999943036476098	0.984
18	74620530	G	A	18	76908574	y	y	splicing	ZNF236(NM_007345:exon14:c.2545+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2551+1G>A;ENST00000253159:exon14:c.2545+1G>A;ENST00000543926:exon14:c.2545+1G>A)	.	.	0.999946188727699	0.946
18	74620530	G	C	18	76908574	y	y	splicing	ZNF236(NM_007345:exon14:c.2545+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2551+1G>C;ENST00000253159:exon14:c.2545+1G>C;ENST00000543926:exon14:c.2545+1G>C)	.	.	0.999946188727699	0.93
18	74620530	G	T	18	76908574	y	y	splicing	ZNF236(NM_007345:exon14:c.2545+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2551+1G>T;ENST00000253159:exon14:c.2545+1G>T;ENST00000543926:exon14:c.2545+1G>T)	.	.	0.999946188727699	0.944
18	74620531	T	A	18	76908575	y	y	splicing	ZNF236(NM_007345:exon14:c.2545+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2551+2T>A;ENST00000253159:exon14:c.2545+2T>A;ENST00000543926:exon14:c.2545+2T>A)	.	.	0.999950607537888	0.878
18	74620531	T	C	18	76908575	y	y	splicing	ZNF236(NM_007345:exon14:c.2545+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2551+2T>C;ENST00000253159:exon14:c.2545+2T>C;ENST00000543926:exon14:c.2545+2T>C)	.	.	0.947069346573988	0.58
18	74620531	T	G	18	76908575	y	y	splicing	ZNF236(NM_007345:exon14:c.2545+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon14:c.2551+2T>G;ENST00000253159:exon14:c.2545+2T>G;ENST00000543926:exon14:c.2545+2T>G)	.	.	0.999944025356209	0.86
18	74620532	A	C	18	76908576	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998603972173307	0.642
18	74620532	A	G	18	76908576	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.183483479653634	0.408
18	74620532	A	T	18	76908576	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998137720557876	0.56
18	74620533	A	C	18	76908577	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.158877481626047	0.324
18	74620533	A	G	18	76908577	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.061553153568397	0.236
18	74620533	A	T	18	76908577	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0568782958545896	0.262
18	74620534	A	C	18	76908578	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.71359093450898E-5	0.026
18	74620534	A	G	18	76908578	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.06657661513151E-5	0.12
18	74620534	A	T	18	76908578	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.13088024738974E-4	0.008
18	74620535	T	A	18	76908579	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00176513647646119	0.046
18	74620535	T	C	18	76908579	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00160474006528464	0.082
18	74620535	T	G	18	76908579	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00119135724925884	0.048
18	74620536	G	A	18	76908580	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.02901318723123E-5	0.004
18	74620536	G	C	18	76908580	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.88275000086081E-5	0.0
18	74620536	G	T	18	76908580	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.03427297978625E-5	0.016
18	74620537	T	A	18	76908581	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.43384207339999E-5	0.002
18	74620537	T	C	18	76908581	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.30790773083982E-5	0.002
18	74620537	T	G	18	76908581	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.14505838604605E-5	0.004
18	74622012	T	A	18	76910056	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0214060802194211	0.296
18	74622012	T	C	18	76910056	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.01613740306896E-4	0.064
18	74622012	T	G	18	76910056	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999744867370647	0.896
18	74622013	C	A	18	76910057	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00513199576951082	0.07
18	74622013	C	G	18	76910057	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00137730933081664	0.048
18	74622013	C	T	18	76910057	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.32269054637541E-5	0.0
18	74622014	T	A	18	76910058	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0143452098382915	0.116
18	74622014	T	C	18	76910058	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.74151006623424E-5	0.014
18	74622014	T	G	18	76910058	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00538714782874128	0.178
18	74622015	C	A	18	76910059	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00102922311503182	0.138
18	74622015	C	G	18	76910059	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00182102487555715	0.098
18	74622015	C	T	18	76910059	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.04140950943459E-5	0.0
18	74622016	A	C	18	76910060	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.57932873863051E-5	0.0
18	74622016	A	G	18	76910060	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.9172018874452E-5	0.002
18	74622016	A	T	18	76910060	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.58645906776164E-5	0.002
18	74622017	T	A	18	76910061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0225212847088433	0.078
18	74622017	T	C	18	76910061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.59607785803234E-5	0.008
18	74622017	T	G	18	76910061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999899106136578	0.988
18	74622018	C	A	18	76910062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0101348825504612	0.274
18	74622018	C	G	18	76910062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0106671709135688	0.294
18	74622018	C	T	18	76910062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.72494867274076E-5	0.002
18	74622019	C	A	18	76910063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00430397232249674	0.044
18	74622019	C	G	18	76910063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00499187279908705	0.064
18	74622019	C	T	18	76910063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.95792866086172E-5	0.0
18	74622020	T	A	18	76910064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.68834164948037E-4	0.004
18	74622020	T	C	18	76910064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.89949021185702E-4	0.004
18	74622020	T	G	18	76910064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.80519592151094E-4	0.002
18	74622021	C	A	18	76910065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.614697099348942	0.43
18	74622021	C	G	18	76910065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.993134255514454	0.79
18	74622021	C	T	18	76910065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.97894930620668E-4	0.048
18	74622022	A	C	18	76910066	y	y	splicing	ZNF236(NM_007345:exon15:c.2546-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2552-2A>C;ENST00000253159:exon15:c.2546-2A>C;ENST00000543926:exon15:c.2546-2A>C)	.	.	0.999988247793601	0.924
18	74622022	A	G	18	76910066	y	y	splicing	ZNF236(NM_007345:exon15:c.2546-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2552-2A>G;ENST00000253159:exon15:c.2546-2A>G;ENST00000543926:exon15:c.2546-2A>G)	.	.	0.999988247793601	0.924
18	74622022	A	T	18	76910066	y	y	splicing	ZNF236(NM_007345:exon15:c.2546-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2552-2A>T;ENST00000253159:exon15:c.2546-2A>T;ENST00000543926:exon15:c.2546-2A>T)	.	.	0.999988247793601	0.924
18	74622023	G	A	18	76910067	y	y	splicing	ZNF236(NM_007345:exon15:c.2546-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2552-1G>A;ENST00000253159:exon15:c.2546-1G>A;ENST00000543926:exon15:c.2546-1G>A)	.	.	0.999986675681007	0.932
18	74622023	G	C	18	76910067	y	y	splicing	ZNF236(NM_007345:exon15:c.2546-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2552-1G>C;ENST00000253159:exon15:c.2546-1G>C;ENST00000543926:exon15:c.2546-1G>C)	.	.	0.999986675681007	0.932
18	74622023	G	T	18	76910067	y	y	splicing	ZNF236(NM_007345:exon15:c.2546-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2552-1G>T;ENST00000253159:exon15:c.2546-1G>T;ENST00000543926:exon15:c.2546-1G>T)	.	.	0.999986675681007	0.932
18	74622024	A	C	18	76910068	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.A2546C:p.D849A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2546C:p.D849A;ENSG00000130856:ENST00000543926:exon15:c.A2546C:p.D849A;ENSG00000130856:ENST00000320610:exon15:c.A2552C:p.D851A;	0.497103929318836	0.51
18	74622024	A	G	18	76910068	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.A2546G:p.D849G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2546G:p.D849G;ENSG00000130856:ENST00000543926:exon15:c.A2546G:p.D849G;ENSG00000130856:ENST00000320610:exon15:c.A2552G:p.D851G;	0.567850880911871	0.442
18	74622024	A	T	18	76910068	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.A2546T:p.D849V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2546T:p.D849V;ENSG00000130856:ENST00000543926:exon15:c.A2546T:p.D849V;ENSG00000130856:ENST00000320610:exon15:c.A2552T:p.D851V;	0.480502882323726	0.5
18	74622025	T	A	18	76910069	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.T2547A:p.D849E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.T2547A:p.D849E;ENSG00000130856:ENST00000543926:exon15:c.T2547A:p.D849E;ENSG00000130856:ENST00000320610:exon15:c.T2553A:p.D851E;	3.72329455017354E-4	0.214
18	74622025	T	C	18	76910069	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon15:c.T2547C:p.D849D;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.T2547C:p.D849D;ENSG00000130856:ENST00000543926:exon15:c.T2547C:p.D849D;ENSG00000130856:ENST00000320610:exon15:c.T2553C:p.D851D;	4.39872736650962E-4	0.136
18	74622025	T	G	18	76910069	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.T2547G:p.D849E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.T2547G:p.D849E;ENSG00000130856:ENST00000543926:exon15:c.T2547G:p.D849E;ENSG00000130856:ENST00000320610:exon15:c.T2553G:p.D851E;	4.27529969694218E-5	0.2
18	74622123	A	C	18	76910167	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.A2645C:p.Q882P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2645C:p.Q882P;ENSG00000130856:ENST00000543926:exon15:c.A2645C:p.Q882P;ENSG00000130856:ENST00000320610:exon15:c.A2651C:p.Q884P;	0.748461403474013	0.512
18	74622123	A	G	18	76910167	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.A2645G:p.Q882R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2645G:p.Q882R;ENSG00000130856:ENST00000543926:exon15:c.A2645G:p.Q882R;ENSG00000130856:ENST00000320610:exon15:c.A2651G:p.Q884R;	0.247346341089574	0.358
18	74622123	A	T	18	76910167	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.A2645T:p.Q882L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2645T:p.Q882L;ENSG00000130856:ENST00000543926:exon15:c.A2645T:p.Q882L;ENSG00000130856:ENST00000320610:exon15:c.A2651T:p.Q884L;	0.906462922263028	0.614
18	74622124	A	C	18	76910168	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.A2646C:p.Q882H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2646C:p.Q882H;ENSG00000130856:ENST00000543926:exon15:c.A2646C:p.Q882H;ENSG00000130856:ENST00000320610:exon15:c.A2652C:p.Q884H;	0.993821631088968	0.86
18	74622124	A	G	18	76910168	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon15:c.A2646G:p.Q882Q;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2646G:p.Q882Q;ENSG00000130856:ENST00000543926:exon15:c.A2646G:p.Q882Q;ENSG00000130856:ENST00000320610:exon15:c.A2652G:p.Q884Q;	0.965730746298832	0.758
18	74622124	A	T	18	76910168	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.A2646T:p.Q882H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.A2646T:p.Q882H;ENSG00000130856:ENST00000543926:exon15:c.A2646T:p.Q882H;ENSG00000130856:ENST00000320610:exon15:c.A2652T:p.Q884H;	0.999019286769247	0.936
18	74622125	G	A	18	76910169	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.G2647A:p.G883S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.G2647A:p.G883S;ENSG00000130856:ENST00000543926:exon15:c.G2647A:p.G883S;ENSG00000130856:ENST00000320610:exon15:c.G2653A:p.G885S;	0.999944143078872	0.996
18	74622125	G	C	18	76910169	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.G2647C:p.G883R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.G2647C:p.G883R;ENSG00000130856:ENST00000543926:exon15:c.G2647C:p.G883R;ENSG00000130856:ENST00000320610:exon15:c.G2653C:p.G885R;	0.999983292354306	0.996
18	74622125	G	T	18	76910169	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon15:c.G2647T:p.G883C;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon15:c.G2647T:p.G883C;ENSG00000130856:ENST00000543926:exon15:c.G2647T:p.G883C;ENSG00000130856:ENST00000320610:exon15:c.G2653T:p.G885C;	0.999984319963783	0.998
18	74622126	G	A	18	76910170	y	y	splicing	ZNF236(NM_007345:exon15:c.2647+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2653+1G>A;ENST00000253159:exon15:c.2647+1G>A;ENST00000543926:exon15:c.2647+1G>A)	.	.	0.999986675681007	0.932
18	74622126	G	C	18	76910170	y	y	splicing	ZNF236(NM_007345:exon15:c.2647+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2653+1G>C;ENST00000253159:exon15:c.2647+1G>C;ENST00000543926:exon15:c.2647+1G>C)	.	.	0.999986675681007	0.932
18	74622126	G	T	18	76910170	y	y	splicing	ZNF236(NM_007345:exon15:c.2647+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2653+1G>T;ENST00000253159:exon15:c.2647+1G>T;ENST00000543926:exon15:c.2647+1G>T)	.	.	0.999986675681007	0.932
18	74622127	T	A	18	76910171	y	y	splicing	ZNF236(NM_007345:exon15:c.2647+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2653+2T>A;ENST00000253159:exon15:c.2647+2T>A;ENST00000543926:exon15:c.2647+2T>A)	.	.	0.999988247793601	0.928
18	74622127	T	C	18	76910171	y	y	splicing	ZNF236(NM_007345:exon15:c.2647+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2653+2T>C;ENST00000253159:exon15:c.2647+2T>C;ENST00000543926:exon15:c.2647+2T>C)	.	.	0.992054276455321	0.63
18	74622127	T	G	18	76910171	y	y	splicing	ZNF236(NM_007345:exon15:c.2647+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon15:c.2653+2T>G;ENST00000253159:exon15:c.2647+2T>G;ENST00000543926:exon15:c.2647+2T>G)	.	.	0.999988247793601	0.928
18	74622128	C	A	18	76910172	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00164304411997735	0.078
18	74622128	C	G	18	76910172	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00119351973695628	0.086
18	74622128	C	T	18	76910172	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00208556565424155	0.074
18	74622129	A	C	18	76910173	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.938759744048095	0.69
18	74622129	A	G	18	76910173	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.591847070909114	0.426
18	74622129	A	T	18	76910173	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.877498945227666	0.622
18	74622130	G	A	18	76910174	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994278848692171	0.982
18	74622130	G	C	18	76910174	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.992546346217798	0.708
18	74622130	G	T	18	76910174	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.996921530931131	0.918
18	74622131	T	A	18	76910175	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.090131017425048	0.17
18	74622131	T	C	18	76910175	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0330688284806644	0.162
18	74622131	T	G	18	76910175	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0343416315544485	0.252
18	74622132	G	A	18	76910176	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.3221647264856E-4	0.01
18	74622132	G	C	18	76910176	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.3221647264856E-4	0.01
18	74622132	G	T	18	76910176	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.94473799358567E-4	0.028
18	74622133	G	A	18	76910177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.22576277536103E-4	0.0
18	74622133	G	C	18	76910177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.22576277536103E-4	0.0
18	74622133	G	T	18	76910177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.22576277536103E-4	0.0
18	74622604	A	C	18	76910648	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.27695044518907E-5	0.0
18	74622604	A	G	18	76910648	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.03783015776387E-5	0.026
18	74622604	A	T	18	76910648	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.31913398332761E-5	0.0
18	74622605	A	C	18	76910649	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.92075021401332E-5	0.0
18	74622605	A	G	18	76910649	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.477305502732063	0.766
18	74622605	A	T	18	76910649	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.52181094566434E-5	0.032
18	74622606	T	A	18	76910650	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.271060762380242	0.464
18	74622606	T	C	18	76910650	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.02531290156062E-4	0.018
18	74622606	T	G	18	76910650	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99970839319652	0.914
18	74622607	T	A	18	76910651	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0102310788118455	0.254
18	74622607	T	C	18	76910651	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.88369495773821E-5	0.006
18	74622607	T	G	18	76910651	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00776604148845857	0.252
18	74622608	T	A	18	76910652	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00453327089434382	0.114
18	74622608	T	C	18	76910652	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.63047519820662E-5	0.0
18	74622608	T	G	18	76910652	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.57234371552733E-4	0.104
18	74622609	A	C	18	76910653	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.06740255182875E-5	0.002
18	74622609	A	G	18	76910653	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.50181873463198E-5	0.004
18	74622609	A	T	18	76910653	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.06740255182875E-5	0.002
18	74622610	T	A	18	76910654	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0412396426610934	0.328
18	74622610	T	C	18	76910654	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40542018651682E-4	0.01
18	74622610	T	G	18	76910654	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999734303124336	0.976
18	74622611	T	A	18	76910655	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.880889088113487	0.686
18	74622611	T	C	18	76910655	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00441583962294583	0.12
18	74622611	T	G	18	76910655	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.890633589191117	0.658
18	74622612	T	A	18	76910656	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.67046458293638E-4	0.016
18	74622612	T	C	18	76910656	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.51543406605881E-5	0.004
18	74622612	T	G	18	76910656	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.7225733219384E-4	0.006
18	74622613	T	A	18	76910657	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00935794603053027	0.184
18	74622613	T	C	18	76910657	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.24652474410574E-5	0.0
18	74622613	T	G	18	76910657	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.261950348195695	0.586
18	74622614	A	C	18	76910658	y	y	splicing	ZNF236(NM_007345:exon16:c.2648-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2654-2A>C;ENST00000253159:exon16:c.2648-2A>C;ENST00000543926:exon16:c.2648-2A>C)	.	.	0.999993519952936	0.928
18	74622614	A	G	18	76910658	y	y	splicing	ZNF236(NM_007345:exon16:c.2648-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2654-2A>G;ENST00000253159:exon16:c.2648-2A>G;ENST00000543926:exon16:c.2648-2A>G)	.	.	0.999993519952936	0.928
18	74622614	A	T	18	76910658	y	y	splicing	ZNF236(NM_007345:exon16:c.2648-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2654-2A>T;ENST00000253159:exon16:c.2648-2A>T;ENST00000543926:exon16:c.2648-2A>T)	.	.	0.999993519952936	0.928
18	74622615	G	A	18	76910659	y	y	splicing	ZNF236(NM_007345:exon16:c.2648-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2654-1G>A;ENST00000253159:exon16:c.2648-1G>A;ENST00000543926:exon16:c.2648-1G>A)	.	.	0.999988247793601	0.926
18	74622615	G	C	18	76910659	y	y	splicing	ZNF236(NM_007345:exon16:c.2648-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2654-1G>C;ENST00000253159:exon16:c.2648-1G>C;ENST00000543926:exon16:c.2648-1G>C)	.	.	0.999988247793601	0.924
18	74622615	G	T	18	76910659	y	y	splicing	ZNF236(NM_007345:exon16:c.2648-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2654-1G>T;ENST00000253159:exon16:c.2648-1G>T;ENST00000543926:exon16:c.2648-1G>T)	.	.	0.999988247793601	0.924
18	74622616	G	A	18	76910660	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.G2648A:p.G883D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.G2648A:p.G883D;ENSG00000130856:ENST00000543926:exon16:c.G2648A:p.G883D;ENSG00000130856:ENST00000320610:exon16:c.G2654A:p.G885D;	0.0151433272212876	0.27
18	74622616	G	C	18	76910660	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.G2648C:p.G883A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.G2648C:p.G883A;ENSG00000130856:ENST00000543926:exon16:c.G2648C:p.G883A;ENSG00000130856:ENST00000320610:exon16:c.G2654C:p.G885A;	0.318431368389093	0.47
18	74622616	G	T	18	76910660	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.G2648T:p.G883V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.G2648T:p.G883V;ENSG00000130856:ENST00000543926:exon16:c.G2648T:p.G883V;ENSG00000130856:ENST00000320610:exon16:c.G2654T:p.G885V;	0.957374970684683	0.808
18	74622617	T	A	18	76910661	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon16:c.T2649A:p.G883G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.T2649A:p.G883G;ENSG00000130856:ENST00000543926:exon16:c.T2649A:p.G883G;ENSG00000130856:ENST00000320610:exon16:c.T2655A:p.G885G;	1.80393441984065E-4	0.01
18	74622617	T	C	18	76910661	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon16:c.T2649C:p.G883G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.T2649C:p.G883G;ENSG00000130856:ENST00000543926:exon16:c.T2649C:p.G883G;ENSG00000130856:ENST00000320610:exon16:c.T2655C:p.G885G;	2.5299045220717E-4	0.004
18	74622617	T	G	18	76910661	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon16:c.T2649G:p.G883G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.T2649G:p.G883G;ENSG00000130856:ENST00000543926:exon16:c.T2649G:p.G883G;ENSG00000130856:ENST00000320610:exon16:c.T2655G:p.G885G;	1.80393441984065E-4	0.0
18	74622765	G	A	18	76910809	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.G2797A:p.V933I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.G2797A:p.V933I;ENSG00000130856:ENST00000543926:exon16:c.G2797A:p.V933I;ENSG00000130856:ENST00000320610:exon16:c.G2803A:p.V935I;	0.777100650748286	0.474
18	74622765	G	C	18	76910809	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.G2797C:p.V933L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.G2797C:p.V933L;ENSG00000130856:ENST00000543926:exon16:c.G2797C:p.V933L;ENSG00000130856:ENST00000320610:exon16:c.G2803C:p.V935L;	0.580279266116791	0.42
18	74622765	G	T	18	76910809	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.G2797T:p.V933L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.G2797T:p.V933L;ENSG00000130856:ENST00000543926:exon16:c.G2797T:p.V933L;ENSG00000130856:ENST00000320610:exon16:c.G2803T:p.V935L;	0.872857714216488	0.598
18	74622766	T	A	18	76910810	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.T2798A:p.V933E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.T2798A:p.V933E;ENSG00000130856:ENST00000543926:exon16:c.T2798A:p.V933E;ENSG00000130856:ENST00000320610:exon16:c.T2804A:p.V935E;	0.00513436262098437	0.232
18	74622766	T	C	18	76910810	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.T2798C:p.V933A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.T2798C:p.V933A;ENSG00000130856:ENST00000543926:exon16:c.T2798C:p.V933A;ENSG00000130856:ENST00000320610:exon16:c.T2804C:p.V935A;	0.0138027911848879	0.116
18	74622766	T	G	18	76910810	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon16:c.T2798G:p.V933G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.T2798G:p.V933G;ENSG00000130856:ENST00000543926:exon16:c.T2798G:p.V933G;ENSG00000130856:ENST00000320610:exon16:c.T2804G:p.V935G;	0.0110007979642232	0.2
18	74622767	A	C	18	76910811	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon16:c.A2799C:p.V933V;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.A2799C:p.V933V;ENSG00000130856:ENST00000543926:exon16:c.A2799C:p.V933V;ENSG00000130856:ENST00000320610:exon16:c.A2805C:p.V935V;	1.24263490107048E-4	0.172
18	74622767	A	G	18	76910811	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon16:c.A2799G:p.V933V;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.A2799G:p.V933V;ENSG00000130856:ENST00000543926:exon16:c.A2799G:p.V933V;ENSG00000130856:ENST00000320610:exon16:c.A2805G:p.V935V;	3.58830124896057E-4	0.132
18	74622767	A	T	18	76910811	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon16:c.A2799T:p.V933V;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon16:c.A2799T:p.V933V;ENSG00000130856:ENST00000543926:exon16:c.A2799T:p.V933V;ENSG00000130856:ENST00000320610:exon16:c.A2805T:p.V935V;	3.14140066774346E-4	0.128
18	74622768	G	A	18	76910812	y	y	splicing	ZNF236(NM_007345:exon16:c.2799+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2805+1G>A;ENST00000253159:exon16:c.2799+1G>A;ENST00000543926:exon16:c.2799+1G>A)	.	.	0.999963671976247	0.934
18	74622768	G	C	18	76910812	y	y	splicing	ZNF236(NM_007345:exon16:c.2799+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2805+1G>C;ENST00000253159:exon16:c.2799+1G>C;ENST00000543926:exon16:c.2799+1G>C)	.	.	0.999971317418422	0.922
18	74622768	G	T	18	76910812	y	y	splicing	ZNF236(NM_007345:exon16:c.2799+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2805+1G>T;ENST00000253159:exon16:c.2799+1G>T;ENST00000543926:exon16:c.2799+1G>T)	.	.	0.999971317418422	0.924
18	74622769	T	A	18	76910813	y	y	splicing	ZNF236(NM_007345:exon16:c.2799+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2805+2T>A;ENST00000253159:exon16:c.2799+2T>A;ENST00000543926:exon16:c.2799+2T>A)	.	.	0.999978278263889	0.95
18	74622769	T	C	18	76910813	y	y	splicing	ZNF236(NM_007345:exon16:c.2799+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2805+2T>C;ENST00000253159:exon16:c.2799+2T>C;ENST00000543926:exon16:c.2799+2T>C)	.	.	0.999900140354323	0.946
18	74622769	T	G	18	76910813	y	y	splicing	ZNF236(NM_007345:exon16:c.2799+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon16:c.2805+2T>G;ENST00000253159:exon16:c.2799+2T>G;ENST00000543926:exon16:c.2799+2T>G)	.	.	0.999978278263889	0.954
18	74622770	G	A	18	76910814	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.0224338505492E-4	0.04
18	74622770	G	C	18	76910814	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99951801724062	0.812
18	74622770	G	T	18	76910814	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999559508647782	0.77
18	74622771	A	C	18	76910815	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999559317647283	0.824
18	74622771	A	G	18	76910815	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999873465673387	0.836
18	74622771	A	T	18	76910815	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999856731007254	0.794
18	74622772	G	A	18	76910816	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999978490439528	0.988
18	74622772	G	C	18	76910816	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999993849060142	0.958
18	74622772	G	T	18	76910816	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999979674332535	0.952
18	74622773	T	A	18	76910817	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997555362499393	0.73
18	74622773	T	C	18	76910817	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.995642911210747	0.838
18	74622773	T	G	18	76910817	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.995370310348913	0.786
18	74622774	A	C	18	76910818	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.33141600191487E-5	0.0
18	74622774	A	G	18	76910818	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.58986279437936E-5	0.0
18	74622774	A	T	18	76910818	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.39239823910297E-4	0.044
18	74622775	T	A	18	76910819	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.26583428139779E-4	0.006
18	74622775	T	C	18	76910819	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.8900845888198E-5	0.002
18	74622775	T	G	18	76910819	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.05351149399879E-5	0.0
18	74624188	C	A	18	76912232	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.366902467754E-4	0.06
18	74624188	C	G	18	76912232	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.38614353779857E-4	0.03
18	74624188	C	T	18	76912232	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.73410633419924E-5	0.004
18	74624189	T	A	18	76912233	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.853450993070988	0.704
18	74624189	T	C	18	76912233	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0246329239432406	0.374
18	74624189	T	G	18	76912233	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.559904436636685	0.686
18	74624190	T	A	18	76912234	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.960891748091983	0.67
18	74624190	T	C	18	76912234	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.42404289073852E-4	0.16
18	74624190	T	G	18	76912234	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.985186088467826	0.692
18	74624191	A	C	18	76912235	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.28566322912498E-5	0.064
18	74624191	A	G	18	76912235	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.50652278078061E-4	0.14
18	74624191	A	T	18	76912235	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.04291764722749E-4	0.164
18	74624192	A	C	18	76912236	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.09412311622555E-5	0.022
18	74624192	A	G	18	76912236	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998991730578358	0.906
18	74624192	A	T	18	76912236	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.80009748532559E-5	0.014
18	74624193	A	C	18	76912237	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.77794257543471E-5	0.006
18	74624193	A	G	18	76912237	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99083252117579	0.938
18	74624193	A	T	18	76912237	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.66531909293764E-5	0.008
18	74624194	T	A	18	76912238	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.92959581461016	0.756
18	74624194	T	C	18	76912238	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.07460684346623E-4	0.082
18	74624194	T	G	18	76912238	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999964531617673	0.98
18	74624195	T	A	18	76912239	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99955673983497	0.968
18	74624195	T	C	18	76912239	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.462345827781421	0.344
18	74624195	T	G	18	76912239	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998296630587157	0.934
18	74624196	T	A	18	76912240	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.64627662860707E-4	0.038
18	74624196	T	C	18	76912240	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.41596579973047E-4	0.008
18	74624196	T	G	18	76912240	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.51069825861769E-4	0.012
18	74624197	T	A	18	76912241	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.272291065541086	0.432
18	74624197	T	C	18	76912241	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.83057477714426E-5	0.01
18	74624197	T	G	18	76912241	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.992117009528139	0.71
18	74624198	A	C	18	76912242	y	y	splicing	ZNF236(NM_007345:exon17:c.2800-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2806-2A>C;ENST00000253159:exon17:c.2800-2A>C;ENST00000543926:exon17:c.2800-2A>C)	.	.	0.999988247793601	0.926
18	74624198	A	G	18	76912242	y	y	splicing	ZNF236(NM_007345:exon17:c.2800-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2806-2A>G;ENST00000253159:exon17:c.2800-2A>G;ENST00000543926:exon17:c.2800-2A>G)	.	.	0.999988247793601	0.926
18	74624198	A	T	18	76912242	y	y	splicing	ZNF236(NM_007345:exon17:c.2800-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2806-2A>T;ENST00000253159:exon17:c.2800-2A>T;ENST00000543926:exon17:c.2800-2A>T)	.	.	0.999988247793601	0.926
18	74624199	G	A	18	76912243	y	y	splicing	ZNF236(NM_007345:exon17:c.2800-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2806-1G>A;ENST00000253159:exon17:c.2800-1G>A;ENST00000543926:exon17:c.2800-1G>A)	.	.	0.999985532734767	0.936
18	74624199	G	C	18	76912243	y	y	splicing	ZNF236(NM_007345:exon17:c.2800-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2806-1G>C;ENST00000253159:exon17:c.2800-1G>C;ENST00000543926:exon17:c.2800-1G>C)	.	.	0.999985532734767	0.934
18	74624199	G	T	18	76912243	y	y	splicing	ZNF236(NM_007345:exon17:c.2800-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2806-1G>T;ENST00000253159:exon17:c.2800-1G>T;ENST00000543926:exon17:c.2800-1G>T)	.	.	0.999985532734767	0.936
18	74624200	A	C	18	76912244	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.A2800C:p.T934P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.A2800C:p.T934P;ENSG00000130856:ENST00000543926:exon17:c.A2800C:p.T934P;ENSG00000130856:ENST00000320610:exon17:c.A2806C:p.T936P;	0.00456800250682568	0.092
18	74624200	A	G	18	76912244	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.A2800G:p.T934A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.A2800G:p.T934A;ENSG00000130856:ENST00000543926:exon17:c.A2800G:p.T934A;ENSG00000130856:ENST00000320610:exon17:c.A2806G:p.T936A;	2.59244618777754E-4	0.004
18	74624200	A	T	18	76912244	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.A2800T:p.T934S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.A2800T:p.T934S;ENSG00000130856:ENST00000543926:exon17:c.A2800T:p.T934S;ENSG00000130856:ENST00000320610:exon17:c.A2806T:p.T936S;	0.00494178914668351	0.114
18	74624201	C	A	18	76912245	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.C2801A:p.T934K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.C2801A:p.T934K;ENSG00000130856:ENST00000543926:exon17:c.C2801A:p.T934K;ENSG00000130856:ENST00000320610:exon17:c.C2807A:p.T936K;	0.984746037999957	0.752
18	74624201	C	G	18	76912245	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.C2801G:p.T934R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.C2801G:p.T934R;ENSG00000130856:ENST00000543926:exon17:c.C2801G:p.T934R;ENSG00000130856:ENST00000320610:exon17:c.C2807G:p.T936R;	0.965705653068261	0.81
18	74624201	C	T	18	76912245	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.C2801T:p.T934I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.C2801T:p.T934I;ENSG00000130856:ENST00000543926:exon17:c.C2801T:p.T934I;ENSG00000130856:ENST00000320610:exon17:c.C2807T:p.T936I;	0.977707793359428	0.768
18	74624301	C	A	18	76912345	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon17:c.C2901A:p.Y967X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon17:c.C2901A:p.Y967X;ENSG00000130856:ENST00000543926:exon17:c.C2901A:p.Y967X;ENSG00000130856:ENST00000320610:exon17:c.C2907A:p.Y969X;	0.945076336542721	0.824
18	74624301	C	G	18	76912345	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon17:c.C2901G:p.Y967X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon17:c.C2901G:p.Y967X;ENSG00000130856:ENST00000543926:exon17:c.C2901G:p.Y967X;ENSG00000130856:ENST00000320610:exon17:c.C2907G:p.Y969X;	0.928308345594207	0.72
18	74624301	C	T	18	76912345	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon17:c.C2901T:p.Y967Y;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.C2901T:p.Y967Y;ENSG00000130856:ENST00000543926:exon17:c.C2901T:p.Y967Y;ENSG00000130856:ENST00000320610:exon17:c.C2907T:p.Y969Y;	0.99927962692558	0.976
18	74624302	A	C	18	76912346	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon17:c.A2902C:p.R968R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.A2902C:p.R968R;ENSG00000130856:ENST00000543926:exon17:c.A2902C:p.R968R;ENSG00000130856:ENST00000320610:exon17:c.A2908C:p.R970R;	0.999302880091106	0.994
18	74624302	A	G	18	76912346	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.A2902G:p.R968G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.A2902G:p.R968G;ENSG00000130856:ENST00000543926:exon17:c.A2902G:p.R968G;ENSG00000130856:ENST00000320610:exon17:c.A2908G:p.R970G;	0.999921033142681	0.976
18	74624302	A	T	18	76912346	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.A2902T:p.R968W;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.A2902T:p.R968W;ENSG00000130856:ENST00000543926:exon17:c.A2902T:p.R968W;ENSG00000130856:ENST00000320610:exon17:c.A2908T:p.R970W;	0.999975793902551	0.99
18	74624303	G	A	18	76912347	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.G2903A:p.R968K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.G2903A:p.R968K;ENSG00000130856:ENST00000543926:exon17:c.G2903A:p.R968K;ENSG00000130856:ENST00000320610:exon17:c.G2909A:p.R970K;	0.999986401312627	1.0
18	74624303	G	C	18	76912347	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.G2903C:p.R968T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.G2903C:p.R968T;ENSG00000130856:ENST00000543926:exon17:c.G2903C:p.R968T;ENSG00000130856:ENST00000320610:exon17:c.G2909C:p.R970T;	0.999995970766287	1.0
18	74624303	G	T	18	76912347	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon17:c.G2903T:p.R968M;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon17:c.G2903T:p.R968M;ENSG00000130856:ENST00000543926:exon17:c.G2903T:p.R968M;ENSG00000130856:ENST00000320610:exon17:c.G2909T:p.R970M;	0.999981834634186	0.998
18	74624304	G	A	18	76912348	y	y	splicing	ZNF236(NM_007345:exon17:c.2903+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2909+1G>A;ENST00000253159:exon17:c.2903+1G>A;ENST00000543926:exon17:c.2903+1G>A)	.	.	0.999985532734767	0.926
18	74624304	G	C	18	76912348	y	y	splicing	ZNF236(NM_007345:exon17:c.2903+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2909+1G>C;ENST00000253159:exon17:c.2903+1G>C;ENST00000543926:exon17:c.2903+1G>C)	.	.	0.999985532734767	0.926
18	74624304	G	T	18	76912348	y	y	splicing	ZNF236(NM_007345:exon17:c.2903+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2909+1G>T;ENST00000253159:exon17:c.2903+1G>T;ENST00000543926:exon17:c.2903+1G>T)	.	.	0.999985532734767	0.926
18	74624305	T	A	18	76912349	y	y	splicing	ZNF236(NM_007345:exon17:c.2903+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2909+2T>A;ENST00000253159:exon17:c.2903+2T>A;ENST00000543926:exon17:c.2903+2T>A)	.	.	0.999970661931818	0.914
18	74624305	T	C	18	76912349	y	y	splicing	ZNF236(NM_007345:exon17:c.2903+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2909+2T>C;ENST00000253159:exon17:c.2903+2T>C;ENST00000543926:exon17:c.2903+2T>C)	.	.	0.983733593864557	0.658
18	74624305	T	G	18	76912349	y	y	splicing	ZNF236(NM_007345:exon17:c.2903+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon17:c.2909+2T>G;ENST00000253159:exon17:c.2903+2T>G;ENST00000543926:exon17:c.2903+2T>G)	.	.	0.99994568797423	0.908
18	74624306	A	C	18	76912350	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999422701355499	0.792
18	74624306	A	G	18	76912350	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.682732105470186	0.534
18	74624306	A	T	18	76912350	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99440366344067	0.864
18	74624307	G	A	18	76912351	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.36958827578012E-4	0.022
18	74624307	G	C	18	76912351	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.25813437503637E-5	0.024
18	74624307	G	T	18	76912351	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.55968088771437E-4	0.002
18	74624308	T	A	18	76912352	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.74425412607533E-5	0.014
18	74624308	T	C	18	76912352	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.16245280116326E-5	0.002
18	74624308	T	G	18	76912352	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.64738035234831E-5	0.008
18	74624309	T	A	18	76912353	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.18179016352116E-4	0.09
18	74624309	T	C	18	76912353	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.06783220565348E-4	0.158
18	74624309	T	G	18	76912353	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.08757322511854E-5	0.084
18	74624310	G	A	18	76912354	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.81004638170862E-5	0.002
18	74624310	G	C	18	76912354	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.59204599821652E-5	0.0
18	74624310	G	T	18	76912354	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.210499652053E-5	0.0
18	74624311	T	A	18	76912355	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.34046385192884E-4	0.058
18	74624311	T	C	18	76912355	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.47268551179353E-5	0.014
18	74624311	T	G	18	76912355	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.31539907093576E-4	0.054
18	74625691	T	A	18	76913735	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00990675653666756	0.144
18	74625691	T	C	18	76913735	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.15926654457145E-5	0.004
18	74625691	T	G	18	76913735	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00426986186465755	0.162
18	74625692	T	A	18	76913736	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.470228859643556	0.46
18	74625692	T	C	18	76913736	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00898307399189083	0.054
18	74625692	T	G	18	76913736	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.267661544482392	0.406
18	74625693	T	A	18	76913737	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999697761081058	0.956
18	74625693	T	C	18	76913737	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.251848076711E-4	0.022
18	74625693	T	G	18	76913737	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.048621275911714	0.34
18	74625694	G	A	18	76913738	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.00189072658912E-4	0.016
18	74625694	G	C	18	76913738	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.32487429098944E-5	0.0
18	74625694	G	T	18	76913738	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.24305878741291E-5	0.002
18	74625695	C	A	18	76913739	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.97085735918385E-4	0.048
18	74625695	C	G	18	76913739	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.05601693763865E-4	0.028
18	74625695	C	T	18	76913739	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.10485307956752E-5	0.0
18	74625696	T	A	18	76913740	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00347573016475052	0.074
18	74625696	T	C	18	76913740	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.86870848271967E-5	0.002
18	74625696	T	G	18	76913740	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00412693116957281	0.064
18	74625697	T	A	18	76913741	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0641469744956575	0.176
18	74625697	T	C	18	76913741	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.61397026562885E-5	0.002
18	74625697	T	G	18	76913741	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0576483591007673	0.21
18	74625698	T	A	18	76913742	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999711823406461	0.88
18	74625698	T	C	18	76913742	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.48147619753836E-5	0.0
18	74625698	T	G	18	76913742	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0770333801004637	0.386
18	74625699	G	A	18	76913743	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.72704030937755E-6	0.0
18	74625699	G	C	18	76913743	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.06296326423454E-5	0.0
18	74625699	G	T	18	76913743	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.56198371906747E-6	0.0
18	74625700	T	A	18	76913744	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.36723347612112E-4	0.07
18	74625700	T	C	18	76913744	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.76412256354765E-5	0.002
18	74625700	T	G	18	76913744	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.793341043691225	0.568
18	74625701	A	C	18	76913745	y	y	splicing	ZNF236(NM_007345:exon18:c.2904-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.2910-2A>C;ENST00000253159:exon18:c.2904-2A>C;ENST00000543926:exon18:c.2904-2A>C)	.	.	0.999988510283643	0.932
18	74625701	A	G	18	76913745	y	y	splicing	ZNF236(NM_007345:exon18:c.2904-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.2910-2A>G;ENST00000253159:exon18:c.2904-2A>G;ENST00000543926:exon18:c.2904-2A>G)	.	.	0.999988510283643	0.932
18	74625701	A	T	18	76913745	y	y	splicing	ZNF236(NM_007345:exon18:c.2904-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.2910-2A>T;ENST00000253159:exon18:c.2904-2A>T;ENST00000543926:exon18:c.2904-2A>T)	.	.	0.999988510283643	0.936
18	74625702	G	A	18	76913746	y	y	splicing	ZNF236(NM_007345:exon18:c.2904-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.2910-1G>A;ENST00000253159:exon18:c.2904-1G>A;ENST00000543926:exon18:c.2904-1G>A)	.	.	0.999965414246739	0.95
18	74625702	G	C	18	76913746	y	y	splicing	ZNF236(NM_007345:exon18:c.2904-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.2910-1G>C;ENST00000253159:exon18:c.2904-1G>C;ENST00000543926:exon18:c.2904-1G>C)	.	.	0.999965414246739	0.942
18	74625702	G	T	18	76913746	y	y	splicing	ZNF236(NM_007345:exon18:c.2904-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.2910-1G>T;ENST00000253159:exon18:c.2904-1G>T;ENST00000543926:exon18:c.2904-1G>T)	.	.	0.999965414246739	0.948
18	74625703	G	A	18	76913747	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon18:c.G2904A:p.R968R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.G2904A:p.R968R;ENSG00000130856:ENST00000543926:exon18:c.G2904A:p.R968R;ENSG00000130856:ENST00000320610:exon18:c.G2910A:p.R970R;	3.55168386756893E-4	0.098
18	74625703	G	C	18	76913747	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.G2904C:p.R968S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.G2904C:p.R968S;ENSG00000130856:ENST00000543926:exon18:c.G2904C:p.R968S;ENSG00000130856:ENST00000320610:exon18:c.G2910C:p.R970S;	0.0476938970160816	0.426
18	74625703	G	T	18	76913747	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.G2904T:p.R968S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.G2904T:p.R968S;ENSG00000130856:ENST00000543926:exon18:c.G2904T:p.R968S;ENSG00000130856:ENST00000320610:exon18:c.G2910T:p.R970S;	0.803995211695925	0.594
18	74625704	T	A	18	76913748	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.T2905A:p.C969S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.T2905A:p.C969S;ENSG00000130856:ENST00000543926:exon18:c.T2905A:p.C969S;ENSG00000130856:ENST00000320610:exon18:c.T2911A:p.C971S;	0.203977674138069	0.412
18	74625704	T	C	18	76913748	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.T2905C:p.C969R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.T2905C:p.C969R;ENSG00000130856:ENST00000543926:exon18:c.T2905C:p.C969R;ENSG00000130856:ENST00000320610:exon18:c.T2911C:p.C971R;	0.113361844789093	0.374
18	74625704	T	G	18	76913748	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.T2905G:p.C969G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.T2905G:p.C969G;ENSG00000130856:ENST00000543926:exon18:c.T2905G:p.C969G;ENSG00000130856:ENST00000320610:exon18:c.T2911G:p.C971G;	0.130363125097172	0.378
18	74625852	C	A	18	76913896	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.C3053A:p.T1018K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.C3053A:p.T1018K;ENSG00000130856:ENST00000543926:exon18:c.C3053A:p.T1018K;ENSG00000130856:ENST00000320610:exon18:c.C3059A:p.T1020K;	0.747365792566654	0.558
18	74625852	C	G	18	76913896	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.C3053G:p.T1018R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.C3053G:p.T1018R;ENSG00000130856:ENST00000543926:exon18:c.C3053G:p.T1018R;ENSG00000130856:ENST00000320610:exon18:c.C3059G:p.T1020R;	0.677288477701849	0.534
18	74625852	C	T	18	76913896	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.C3053T:p.T1018I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.C3053T:p.T1018I;ENSG00000130856:ENST00000543926:exon18:c.C3053T:p.T1018I;ENSG00000130856:ENST00000320610:exon18:c.C3059T:p.T1020I;	0.999520940314286	0.944
18	74625853	A	C	18	76913897	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon18:c.A3054C:p.T1018T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.A3054C:p.T1018T;ENSG00000130856:ENST00000543926:exon18:c.A3054C:p.T1018T;ENSG00000130856:ENST00000320610:exon18:c.A3060C:p.T1020T;	0.999748995020542	0.928
18	74625853	A	G	18	76913897	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon18:c.A3054G:p.T1018T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.A3054G:p.T1018T;ENSG00000130856:ENST00000543926:exon18:c.A3054G:p.T1018T;ENSG00000130856:ENST00000320610:exon18:c.A3060G:p.T1020T;	0.999749855872647	0.93
18	74625853	A	T	18	76913897	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon18:c.A3054T:p.T1018T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.A3054T:p.T1018T;ENSG00000130856:ENST00000543926:exon18:c.A3054T:p.T1018T;ENSG00000130856:ENST00000320610:exon18:c.A3060T:p.T1020T;	0.999788358954235	0.888
18	74625854	G	A	18	76913898	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.G3055A:p.G1019R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.G3055A:p.G1019R;ENSG00000130856:ENST00000543926:exon18:c.G3055A:p.G1019R;ENSG00000130856:ENST00000320610:exon18:c.G3061A:p.G1021R;	0.999997910457725	0.998
18	74625854	G	C	18	76913898	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon18:c.G3055C:p.G1019R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon18:c.G3055C:p.G1019R;ENSG00000130856:ENST00000543926:exon18:c.G3055C:p.G1019R;ENSG00000130856:ENST00000320610:exon18:c.G3061C:p.G1021R;	0.999997863244633	0.998
18	74625854	G	T	18	76913898	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon18:c.G3055T:p.G1019X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon18:c.G3055T:p.G1019X;ENSG00000130856:ENST00000543926:exon18:c.G3055T:p.G1019X;ENSG00000130856:ENST00000320610:exon18:c.G3061T:p.G1021X;	0.999990891285239	0.97
18	74625855	G	A	18	76913899	y	y	splicing	ZNF236(NM_007345:exon18:c.3055+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.3061+1G>A;ENST00000253159:exon18:c.3055+1G>A;ENST00000543926:exon18:c.3055+1G>A)	.	.	0.999986741007567	0.936
18	74625855	G	C	18	76913899	y	y	splicing	ZNF236(NM_007345:exon18:c.3055+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.3061+1G>C;ENST00000253159:exon18:c.3055+1G>C;ENST00000543926:exon18:c.3055+1G>C)	.	.	0.999986741007567	0.922
18	74625855	G	T	18	76913899	y	y	splicing	ZNF236(NM_007345:exon18:c.3055+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.3061+1G>T;ENST00000253159:exon18:c.3055+1G>T;ENST00000543926:exon18:c.3055+1G>T)	.	.	0.999986741007567	0.936
18	74625856	T	A	18	76913900	y	y	splicing	ZNF236(NM_007345:exon18:c.3055+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.3061+2T>A;ENST00000253159:exon18:c.3055+2T>A;ENST00000543926:exon18:c.3055+2T>A)	.	.	0.999975493285532	0.928
18	74625856	T	C	18	76913900	y	y	splicing	ZNF236(NM_007345:exon18:c.3055+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.3061+2T>C;ENST00000253159:exon18:c.3055+2T>C;ENST00000543926:exon18:c.3055+2T>C)	.	.	0.991559200761825	0.606
18	74625856	T	G	18	76913900	y	y	splicing	ZNF236(NM_007345:exon18:c.3055+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon18:c.3061+2T>G;ENST00000253159:exon18:c.3055+2T>G;ENST00000543926:exon18:c.3055+2T>G)	.	.	0.999975493285532	0.932
18	74625857	C	A	18	76913901	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.74236437715326E-4	0.078
18	74625857	C	G	18	76913901	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.32785757641085E-4	0.042
18	74625857	C	T	18	76913901	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00493883137234792	0.08
18	74625858	A	C	18	76913902	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999243982278592	0.646
18	74625858	A	G	18	76913902	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999666101589575	0.736
18	74625858	A	T	18	76913902	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.996762243923037	0.692
18	74625859	C	A	18	76913903	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.63533963021741E-5	0.008
18	74625859	C	G	18	76913903	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.28583983253854E-5	0.016
18	74625859	C	T	18	76913903	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.94598906036384E-5	0.006
18	74625860	T	A	18	76913904	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.529750416324942	0.446
18	74625860	T	C	18	76913904	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.273166531411988	0.35
18	74625860	T	G	18	76913904	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00223812393542262	0.232
18	74625861	G	A	18	76913905	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.39689060760647E-4	0.014
18	74625861	G	C	18	76913905	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.21185569261595E-4	0.018
18	74625861	G	T	18	76913905	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.44517633659508E-4	0.044
18	74625862	T	A	18	76913906	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00198742893790775	0.184
18	74625862	T	C	18	76913906	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00104895293995952	0.088
18	74625862	T	G	18	76913906	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00138030829990442	0.104
18	74627591	C	A	18	76915635	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.21142582940784E-4	0.06
18	74627591	C	G	18	76915635	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.47531077120712E-4	0.038
18	74627591	C	T	18	76915635	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.91320489499667E-5	0.0
18	74627592	T	A	18	76915636	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999963794946792	0.956
18	74627592	T	C	18	76915636	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.69242778916514E-4	0.022
18	74627592	T	G	18	76915636	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.241499006711381	0.4
18	74627593	G	A	18	76915637	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.82679148096788E-5	0.012
18	74627593	G	C	18	76915637	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.75757683017681E-5	0.0
18	74627593	G	T	18	76915637	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.73461788895181E-5	0.0
18	74627594	T	A	18	76915638	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.993478322207272	0.834
18	74627594	T	C	18	76915638	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.02495650314308E-5	0.0
18	74627594	T	G	18	76915638	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00375988379688036	0.1
18	74627595	G	A	18	76915639	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.10043293885384E-5	0.0
18	74627595	G	C	18	76915639	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.48535030300648E-5	0.004
18	74627595	G	T	18	76915639	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.31378247454735E-5	0.0
18	74627596	C	A	18	76915640	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00170757183843235	0.064
18	74627596	C	G	18	76915640	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00198866765560654	0.052
18	74627596	C	T	18	76915640	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.8688616161069E-5	0.012
18	74627597	T	A	18	76915641	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00195426533411047	0.242
18	74627597	T	C	18	76915641	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.16193765278487E-5	0.05
18	74627597	T	G	18	76915641	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00116243216714649	0.288
18	74627598	T	A	18	76915642	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99923514117508	0.94
18	74627598	T	C	18	76915642	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.43705569674504E-5	0.002
18	74627598	T	G	18	76915642	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.452168098034714	0.29
18	74627599	G	A	18	76915643	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.68037980228329E-5	0.0
18	74627599	G	C	18	76915643	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.48064695835003E-6	0.002
18	74627599	G	T	18	76915643	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.6815803950322E-6	0.002
18	74627600	C	A	18	76915644	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.193414685019557	0.194
18	74627600	C	G	18	76915644	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.976933945064586	0.618
18	74627600	C	T	18	76915644	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.25846599194803E-5	0.032
18	74627601	A	C	18	76915645	y	y	splicing	ZNF236(NM_007345:exon19:c.3056-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3062-2A>C;ENST00000253159:exon19:c.3056-2A>C;ENST00000543926:exon19:c.3056-2A>C)	.	.	0.999986903042585	0.926
18	74627601	A	G	18	76915645	y	y	splicing	ZNF236(NM_007345:exon19:c.3056-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3062-2A>G;ENST00000253159:exon19:c.3056-2A>G;ENST00000543926:exon19:c.3056-2A>G)	.	.	0.999986903042585	0.926
18	74627601	A	T	18	76915645	y	y	splicing	ZNF236(NM_007345:exon19:c.3056-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3062-2A>T;ENST00000253159:exon19:c.3056-2A>T;ENST00000543926:exon19:c.3056-2A>T)	.	.	0.999989917668626	0.924
18	74627602	G	A	18	76915646	y	y	splicing	ZNF236(NM_007345:exon19:c.3056-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3062-1G>A;ENST00000253159:exon19:c.3056-1G>A;ENST00000543926:exon19:c.3056-1G>A)	.	.	0.999986675681007	0.94
18	74627602	G	C	18	76915646	y	y	splicing	ZNF236(NM_007345:exon19:c.3056-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3062-1G>C;ENST00000253159:exon19:c.3056-1G>C;ENST00000543926:exon19:c.3056-1G>C)	.	.	0.999986675681007	0.94
18	74627602	G	T	18	76915646	y	y	splicing	ZNF236(NM_007345:exon19:c.3056-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3062-1G>T;ENST00000253159:exon19:c.3056-1G>T;ENST00000543926:exon19:c.3056-1G>T)	.	.	0.999986675681007	0.94
18	74627603	G	A	18	76915647	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3056A:p.G1019E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3056A:p.G1019E;ENSG00000130856:ENST00000543926:exon19:c.G3056A:p.G1019E;ENSG00000130856:ENST00000320610:exon19:c.G3062A:p.G1021E;	0.998485217931482	0.932
18	74627603	G	C	18	76915647	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3056C:p.G1019A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3056C:p.G1019A;ENSG00000130856:ENST00000543926:exon19:c.G3056C:p.G1019A;ENSG00000130856:ENST00000320610:exon19:c.G3062C:p.G1021A;	0.999821712962379	0.95
18	74627603	G	T	18	76915647	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3056T:p.G1019V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3056T:p.G1019V;ENSG00000130856:ENST00000543926:exon19:c.G3056T:p.G1019V;ENSG00000130856:ENST00000320610:exon19:c.G3062T:p.G1021V;	0.999886939973394	0.996
18	74627604	A	C	18	76915648	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon19:c.A3057C:p.G1019G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.A3057C:p.G1019G;ENSG00000130856:ENST00000543926:exon19:c.A3057C:p.G1019G;ENSG00000130856:ENST00000320610:exon19:c.A3063C:p.G1021G;	4.6604202334393E-5	0.004
18	74627604	A	G	18	76915648	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon19:c.A3057G:p.G1019G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.A3057G:p.G1019G;ENSG00000130856:ENST00000543926:exon19:c.A3057G:p.G1019G;ENSG00000130856:ENST00000320610:exon19:c.A3063G:p.G1021G;	8.9931971991196E-5	0.028
18	74627604	A	T	18	76915648	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon19:c.A3057T:p.G1019G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.A3057T:p.G1019G;ENSG00000130856:ENST00000543926:exon19:c.A3057T:p.G1019G;ENSG00000130856:ENST00000320610:exon19:c.A3063T:p.G1021G;	1.0187595826178E-5	0.0
18	74627813	G	A	18	76915857	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3266A:p.G1089E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3266A:p.G1089E;ENSG00000130856:ENST00000543926:exon19:c.G3266A:p.G1089E;ENSG00000130856:ENST00000320610:exon19:c.G3272A:p.G1091E;	3.48926505595698E-5	0.0
18	74627813	G	C	18	76915857	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3266C:p.G1089A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3266C:p.G1089A;ENSG00000130856:ENST00000543926:exon19:c.G3266C:p.G1089A;ENSG00000130856:ENST00000320610:exon19:c.G3272C:p.G1091A;	2.1964927222888E-5	0.002
18	74627813	G	T	18	76915857	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3266T:p.G1089V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3266T:p.G1089V;ENSG00000130856:ENST00000543926:exon19:c.G3266T:p.G1089V;ENSG00000130856:ENST00000320610:exon19:c.G3272T:p.G1091V;	0.00215484896778848	0.086
18	74627814	A	C	18	76915858	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon19:c.A3267C:p.G1089G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.A3267C:p.G1089G;ENSG00000130856:ENST00000543926:exon19:c.A3267C:p.G1089G;ENSG00000130856:ENST00000320610:exon19:c.A3273C:p.G1091G;	0.966334632333293	0.854
18	74627814	A	G	18	76915858	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon19:c.A3267G:p.G1089G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.A3267G:p.G1089G;ENSG00000130856:ENST00000543926:exon19:c.A3267G:p.G1089G;ENSG00000130856:ENST00000320610:exon19:c.A3273G:p.G1091G;	0.984998274518085	0.882
18	74627814	A	T	18	76915858	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon19:c.A3267T:p.G1089G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.A3267T:p.G1089G;ENSG00000130856:ENST00000543926:exon19:c.A3267T:p.G1089G;ENSG00000130856:ENST00000320610:exon19:c.A3273T:p.G1091G;	0.978618090900916	0.9
18	74627815	G	A	18	76915859	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3268A:p.D1090N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3268A:p.D1090N;ENSG00000130856:ENST00000543926:exon19:c.G3268A:p.D1090N;ENSG00000130856:ENST00000320610:exon19:c.G3274A:p.D1092N;	0.999973737033486	0.994
18	74627815	G	C	18	76915859	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3268C:p.D1090H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3268C:p.D1090H;ENSG00000130856:ENST00000543926:exon19:c.G3268C:p.D1090H;ENSG00000130856:ENST00000320610:exon19:c.G3274C:p.D1092H;	0.999986715567121	0.992
18	74627815	G	T	18	76915859	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon19:c.G3268T:p.D1090Y;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon19:c.G3268T:p.D1090Y;ENSG00000130856:ENST00000543926:exon19:c.G3268T:p.D1090Y;ENSG00000130856:ENST00000320610:exon19:c.G3274T:p.D1092Y;	0.999984103177999	0.998
18	74627816	G	A	18	76915860	y	y	splicing	ZNF236(NM_007345:exon19:c.3268+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3274+1G>A;ENST00000253159:exon19:c.3268+1G>A;ENST00000543926:exon19:c.3268+1G>A)	.	.	0.999938990645747	0.96
18	74627816	G	C	18	76915860	y	y	splicing	ZNF236(NM_007345:exon19:c.3268+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3274+1G>C;ENST00000253159:exon19:c.3268+1G>C;ENST00000543926:exon19:c.3268+1G>C)	.	.	0.999960200702261	0.958
18	74627816	G	T	18	76915860	y	y	splicing	ZNF236(NM_007345:exon19:c.3268+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3274+1G>T;ENST00000253159:exon19:c.3268+1G>T;ENST00000543926:exon19:c.3268+1G>T)	.	.	0.999938990645747	0.96
18	74627817	T	A	18	76915861	y	y	splicing	ZNF236(NM_007345:exon19:c.3268+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3274+2T>A;ENST00000253159:exon19:c.3268+2T>A;ENST00000543926:exon19:c.3268+2T>A)	.	.	0.999969255906173	0.862
18	74627817	T	C	18	76915861	y	y	splicing	ZNF236(NM_007345:exon19:c.3268+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3274+2T>C;ENST00000253159:exon19:c.3268+2T>C;ENST00000543926:exon19:c.3268+2T>C)	.	.	0.879409023765162	0.574
18	74627817	T	G	18	76915861	y	y	splicing	ZNF236(NM_007345:exon19:c.3268+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon19:c.3274+2T>G;ENST00000253159:exon19:c.3268+2T>G;ENST00000543926:exon19:c.3268+2T>G)	.	.	0.999962958601995	0.85
18	74627818	A	C	18	76915862	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999860303485085	0.854
18	74627818	A	G	18	76915862	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998884478573206	0.76
18	74627818	A	T	18	76915862	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999548914666025	0.91
18	74627819	T	A	18	76915863	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.56923445988471E-5	0.096
18	74627819	T	C	18	76915863	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.24559335053912E-5	0.008
18	74627819	T	G	18	76915863	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.57123859189722E-5	0.044
18	74627820	T	A	18	76915864	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00158921697290255	0.018
18	74627820	T	C	18	76915864	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.03977960103551E-4	0.01
18	74627820	T	G	18	76915864	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.60249783508228E-4	0.062
18	74627821	T	A	18	76915865	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00179815660239178	0.094
18	74627821	T	C	18	76915865	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00621832793047056	0.198
18	74627821	T	G	18	76915865	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00220836865510634	0.152
18	74627822	T	A	18	76915866	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.49670331258397E-6	0.0
18	74627822	T	C	18	76915866	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.49670331258397E-6	0.0
18	74627822	T	G	18	76915866	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.33285134764126E-6	0.0
18	74627823	C	A	18	76915867	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.43907114342426E-4	0.002
18	74627823	C	G	18	76915867	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.10426212606079E-4	0.0
18	74627823	C	T	18	76915867	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.70702828172092E-4	0.002
18	74631720	G	A	18	76919764	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.98163458267061E-5	0.002
18	74631720	G	C	18	76919764	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.34284278289794E-5	0.0
18	74631720	G	T	18	76919764	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.26848964498332E-5	0.0
18	74631721	A	C	18	76919765	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.39296316501815E-5	0.0
18	74631721	A	G	18	76919765	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.29716173956742E-5	0.0
18	74631721	A	T	18	76919765	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.02323623449859E-5	0.026
18	74631722	T	A	18	76919766	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.313534545393543	0.52
18	74631722	T	C	18	76919766	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.55404947702358E-4	0.022
18	74631722	T	G	18	76919766	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999871592027178	0.91
18	74631723	T	A	18	76919767	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.94067674309909E-4	0.076
18	74631723	T	C	18	76919767	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.60957483301336E-5	0.0
18	74631723	T	G	18	76919767	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.61090095375221E-4	0.06
18	74631724	T	A	18	76919768	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0172032802380442	0.088
18	74631724	T	C	18	76919768	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.60348216628233E-5	0.002
18	74631724	T	G	18	76919768	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.55853636307734E-4	0.06
18	74631725	T	A	18	76919769	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99973219563452	0.94
18	74631725	T	C	18	76919769	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.91441733224196E-5	0.002
18	74631725	T	G	18	76919769	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.013033380839924	0.226
18	74631726	G	A	18	76919770	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.43523465875028E-4	0.0
18	74631726	G	C	18	76919770	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.21511959951345E-5	0.11
18	74631726	G	T	18	76919770	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.40976789402753E-5	0.01
18	74631727	T	A	18	76919771	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999837231987025	0.862
18	74631727	T	C	18	76919771	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.9363624999702E-5	0.02
18	74631727	T	G	18	76919771	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.545361750796337	0.496
18	74631728	G	A	18	76919772	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.27808302901212E-5	0.008
18	74631728	G	C	18	76919772	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.23632501317834E-5	0.002
18	74631728	G	T	18	76919772	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.6777144765674E-5	0.0
18	74631729	T	A	18	76919773	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.605517000897706	0.454
18	74631729	T	C	18	76919773	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.68855550154598E-5	0.0
18	74631729	T	G	18	76919773	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999339900140651	0.798
18	74631730	A	C	18	76919774	y	y	splicing	ZNF236(NM_007345:exon20:c.3269-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3275-2A>C;ENST00000253159:exon20:c.3269-2A>C;ENST00000543926:exon20:c.3269-2A>C)	.	.	0.999988247793601	0.93
18	74631730	A	G	18	76919774	y	y	splicing	ZNF236(NM_007345:exon20:c.3269-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3275-2A>G;ENST00000253159:exon20:c.3269-2A>G;ENST00000543926:exon20:c.3269-2A>G)	.	.	0.999988247793601	0.93
18	74631730	A	T	18	76919774	y	y	splicing	ZNF236(NM_007345:exon20:c.3269-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3275-2A>T;ENST00000253159:exon20:c.3269-2A>T;ENST00000543926:exon20:c.3269-2A>T)	.	.	0.999988247793601	0.93
18	74631731	G	A	18	76919775	y	y	splicing	ZNF236(NM_007345:exon20:c.3269-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3275-1G>A;ENST00000253159:exon20:c.3269-1G>A;ENST00000543926:exon20:c.3269-1G>A)	.	.	0.999989072007339	0.934
18	74631731	G	C	18	76919775	y	y	splicing	ZNF236(NM_007345:exon20:c.3269-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3275-1G>C;ENST00000253159:exon20:c.3269-1G>C;ENST00000543926:exon20:c.3269-1G>C)	.	.	0.999989072007339	0.934
18	74631731	G	T	18	76919775	y	y	splicing	ZNF236(NM_007345:exon20:c.3269-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3275-1G>T;ENST00000253159:exon20:c.3269-1G>T;ENST00000543926:exon20:c.3269-1G>T)	.	.	0.999989072007339	0.934
18	74631732	A	C	18	76919776	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.A3269C:p.D1090A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.A3269C:p.D1090A;ENSG00000130856:ENST00000543926:exon20:c.A3269C:p.D1090A;ENSG00000130856:ENST00000320610:exon20:c.A3275C:p.D1092A;	0.00773422330798746	0.056
18	74631732	A	G	18	76919776	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.A3269G:p.D1090G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.A3269G:p.D1090G;ENSG00000130856:ENST00000543926:exon20:c.A3269G:p.D1090G;ENSG00000130856:ENST00000320610:exon20:c.A3275G:p.D1092G;	0.00387451447864445	0.132
18	74631732	A	T	18	76919776	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.A3269T:p.D1090V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.A3269T:p.D1090V;ENSG00000130856:ENST00000543926:exon20:c.A3269T:p.D1090V;ENSG00000130856:ENST00000320610:exon20:c.A3275T:p.D1092V;	0.0116610681150934	0.062
18	74631733	C	A	18	76919777	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.C3270A:p.D1090E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.C3270A:p.D1090E;ENSG00000130856:ENST00000543926:exon20:c.C3270A:p.D1090E;ENSG00000130856:ENST00000320610:exon20:c.C3276A:p.D1092E;	9.44694782747899E-5	0.0
18	74631733	C	G	18	76919777	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.C3270G:p.D1090E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.C3270G:p.D1090E;ENSG00000130856:ENST00000543926:exon20:c.C3270G:p.D1090E;ENSG00000130856:ENST00000320610:exon20:c.C3276G:p.D1092E;	8.32953756363984E-5	0.01
18	74631733	C	T	18	76919777	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon20:c.C3270T:p.D1090D;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.C3270T:p.D1090D;ENSG00000130856:ENST00000543926:exon20:c.C3270T:p.D1090D;ENSG00000130856:ENST00000320610:exon20:c.C3276T:p.D1092D;	6.53819140737224E-5	0.0
18	74632012	G	A	18	76920056	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon20:c.G3549A:p.V1183V;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.G3549A:p.V1183V;ENSG00000130856:ENST00000543926:exon20:c.G3549A:p.V1183V;ENSG00000130856:ENST00000320610:exon20:c.G3555A:p.V1185V;	1.45391076118186E-5	0.002
18	74632012	G	C	18	76920056	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon20:c.G3549C:p.V1183V;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.G3549C:p.V1183V;ENSG00000130856:ENST00000543926:exon20:c.G3549C:p.V1183V;ENSG00000130856:ENST00000320610:exon20:c.G3555C:p.V1185V;	1.91098066427257E-5	0.002
18	74632012	G	T	18	76920056	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon20:c.G3549T:p.V1183V;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.G3549T:p.V1183V;ENSG00000130856:ENST00000543926:exon20:c.G3549T:p.V1183V;ENSG00000130856:ENST00000320610:exon20:c.G3555T:p.V1185V;	6.95240120916148E-4	0.024
18	74632013	A	C	18	76920057	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon20:c.A3550C:p.R1184R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.A3550C:p.R1184R;ENSG00000130856:ENST00000543926:exon20:c.A3550C:p.R1184R;ENSG00000130856:ENST00000320610:exon20:c.A3556C:p.R1186R;	0.999666737190305	0.968
18	74632013	A	G	18	76920057	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.A3550G:p.R1184G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.A3550G:p.R1184G;ENSG00000130856:ENST00000543926:exon20:c.A3550G:p.R1184G;ENSG00000130856:ENST00000320610:exon20:c.A3556G:p.R1186G;	0.999960403431258	1.0
18	74632013	A	T	18	76920057	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.A3550T:p.R1184W;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.A3550T:p.R1184W;ENSG00000130856:ENST00000543926:exon20:c.A3550T:p.R1184W;ENSG00000130856:ENST00000320610:exon20:c.A3556T:p.R1186W;	0.999856129400505	1.0
18	74632014	G	A	18	76920058	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.G3551A:p.R1184K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.G3551A:p.R1184K;ENSG00000130856:ENST00000543926:exon20:c.G3551A:p.R1184K;ENSG00000130856:ENST00000320610:exon20:c.G3557A:p.R1186K;	0.999940914176803	0.992
18	74632014	G	C	18	76920058	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.G3551C:p.R1184T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.G3551C:p.R1184T;ENSG00000130856:ENST00000543926:exon20:c.G3551C:p.R1184T;ENSG00000130856:ENST00000320610:exon20:c.G3557C:p.R1186T;	0.999990216344646	1.0
18	74632014	G	T	18	76920058	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon20:c.G3551T:p.R1184M;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon20:c.G3551T:p.R1184M;ENSG00000130856:ENST00000543926:exon20:c.G3551T:p.R1184M;ENSG00000130856:ENST00000320610:exon20:c.G3557T:p.R1186M;	0.999875931459167	0.986
18	74632015	G	A	18	76920059	y	y	splicing	ZNF236(NM_007345:exon20:c.3551+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3557+1G>A;ENST00000253159:exon20:c.3551+1G>A;ENST00000543926:exon20:c.3551+1G>A)	.	.	0.999989072007339	0.934
18	74632015	G	C	18	76920059	y	y	splicing	ZNF236(NM_007345:exon20:c.3551+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3557+1G>C;ENST00000253159:exon20:c.3551+1G>C;ENST00000543926:exon20:c.3551+1G>C)	.	.	0.999989072007339	0.934
18	74632015	G	T	18	76920059	y	y	splicing	ZNF236(NM_007345:exon20:c.3551+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3557+1G>T;ENST00000253159:exon20:c.3551+1G>T;ENST00000543926:exon20:c.3551+1G>T)	.	.	0.999989072007339	0.934
18	74632016	T	A	18	76920060	y	y	splicing	ZNF236(NM_007345:exon20:c.3551+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3557+2T>A;ENST00000253159:exon20:c.3551+2T>A;ENST00000543926:exon20:c.3551+2T>A)	.	.	0.999988247793601	0.93
18	74632016	T	C	18	76920060	y	y	splicing	ZNF236(NM_007345:exon20:c.3551+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3557+2T>C;ENST00000253159:exon20:c.3551+2T>C;ENST00000543926:exon20:c.3551+2T>C)	.	.	0.999943260809542	0.87
18	74632016	T	G	18	76920060	y	y	splicing	ZNF236(NM_007345:exon20:c.3551+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon20:c.3557+2T>G;ENST00000253159:exon20:c.3551+2T>G;ENST00000543926:exon20:c.3551+2T>G)	.	.	0.999988247793601	0.93
18	74632017	G	A	18	76920061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.18385809363824E-5	0.008
18	74632017	G	C	18	76920061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.314577033637166	0.564
18	74632017	G	T	18	76920061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.31202236235156	0.528
18	74632018	A	C	18	76920062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.828261542856373	0.414
18	74632018	A	G	18	76920062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.988883530364276	0.736
18	74632018	A	T	18	76920062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.984994548090848	0.71
18	74632019	G	A	18	76920063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998572893430191	0.894
18	74632019	G	C	18	76920063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994258421487945	0.788
18	74632019	G	T	18	76920063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999068588263662	0.882
18	74632020	G	A	18	76920064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.1096961731271E-4	0.052
18	74632020	G	C	18	76920064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.05249032894119E-4	0.112
18	74632020	G	T	18	76920064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.52290110210561E-4	0.088
18	74632021	G	A	18	76920065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.77547636659262E-5	0.0
18	74632021	G	C	18	76920065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.3519283322177E-6	0.0
18	74632021	G	T	18	76920065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.92244252924808E-5	0.004
18	74632022	C	A	18	76920066	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.55606710742578E-5	0.0
18	74632022	C	G	18	76920066	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.09961376185257E-5	0.004
18	74632022	C	T	18	76920066	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.59290212382545E-5	0.052
18	74635015	C	A	18	76923059	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.57134037417579E-4	0.102
18	74635015	C	G	18	76923059	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00103727542054203	0.092
18	74635015	C	T	18	76923059	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.59999792526794E-5	0.006
18	74635016	T	A	18	76923060	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.181871829187878	0.584
18	74635016	T	C	18	76923060	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0212941937566756	0.348
18	74635016	T	G	18	76923060	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.190552371383148	0.488
18	74635017	T	A	18	76923061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.855883446856221	0.646
18	74635017	T	C	18	76923061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.48290021139796E-4	0.068
18	74635017	T	G	18	76923061	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.219183444640586	0.642
18	74635018	T	A	18	76923062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.189469224206069	0.434
18	74635018	T	C	18	76923062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.07801279860562E-4	0.016
18	74635018	T	G	18	76923062	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00678226732254794	0.228
18	74635019	T	A	18	76923063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0028439715644141	0.136
18	74635019	T	C	18	76923063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.95817527215626E-5	0.06
18	74635019	T	G	18	76923063	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.03789535473779E-4	0.146
18	74635020	T	A	18	76923064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999838775369362	0.962
18	74635020	T	C	18	76923064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.07485376572502E-4	0.008
18	74635020	T	G	18	76923064	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0018269426126557	0.096
18	74635021	G	A	18	76923065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999584377276454	0.992
18	74635021	G	C	18	76923065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.87338870517264E-5	0.002
18	74635021	G	T	18	76923065	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.39081334020205E-5	0.012
18	74635022	G	A	18	76923066	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.83327471219498E-5	0.008
18	74635022	G	C	18	76923066	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.18908251607468E-4	0.026
18	74635022	G	T	18	76923066	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.31344472231115E-4	0.076
18	74635023	A	C	18	76923067	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.16003306661637E-4	0.018
18	74635023	A	G	18	76923067	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.2241818098139E-4	0.058
18	74635023	A	T	18	76923067	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.82006686768263E-4	0.108
18	74635024	T	A	18	76923068	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0230208566951771	0.276
18	74635024	T	C	18	76923068	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.61395254893638E-5	0.026
18	74635024	T	G	18	76923068	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.760885908163902	0.586
18	74635025	A	C	18	76923069	y	y	splicing	ZNF236(NM_007345:exon21:c.3552-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3558-2A>C;ENST00000253159:exon21:c.3552-2A>C;ENST00000543926:exon21:c.3552-2A>C)	.	.	0.999988624979899	0.944
18	74635025	A	G	18	76923069	y	y	splicing	ZNF236(NM_007345:exon21:c.3552-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3558-2A>G;ENST00000253159:exon21:c.3552-2A>G;ENST00000543926:exon21:c.3552-2A>G)	.	.	0.999988624979899	0.944
18	74635025	A	T	18	76923069	y	y	splicing	ZNF236(NM_007345:exon21:c.3552-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3558-2A>T;ENST00000253159:exon21:c.3552-2A>T;ENST00000543926:exon21:c.3552-2A>T)	.	.	0.999988624979899	0.944
18	74635026	G	A	18	76923070	y	y	splicing	ZNF236(NM_007345:exon21:c.3552-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3558-1G>A;ENST00000253159:exon21:c.3552-1G>A;ENST00000543926:exon21:c.3552-1G>A)	.	.	0.999979422316293	0.95
18	74635026	G	C	18	76923070	y	y	splicing	ZNF236(NM_007345:exon21:c.3552-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3558-1G>C;ENST00000253159:exon21:c.3552-1G>C;ENST00000543926:exon21:c.3552-1G>C)	.	.	0.999979422316293	0.95
18	74635026	G	T	18	76923070	y	y	splicing	ZNF236(NM_007345:exon21:c.3552-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3558-1G>T;ENST00000253159:exon21:c.3552-1G>T;ENST00000543926:exon21:c.3552-1G>T)	.	.	0.999979422316293	0.95
18	74635027	G	A	18	76923071	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon21:c.G3552A:p.R1184R;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.G3552A:p.R1184R;ENSG00000130856:ENST00000543926:exon21:c.G3552A:p.R1184R;ENSG00000130856:ENST00000320610:exon21:c.G3558A:p.R1186R;	0.675153927598836	0.488
18	74635027	G	C	18	76923071	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.G3552C:p.R1184S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.G3552C:p.R1184S;ENSG00000130856:ENST00000543926:exon21:c.G3552C:p.R1184S;ENSG00000130856:ENST00000320610:exon21:c.G3558C:p.R1186S;	0.986926799099198	0.816
18	74635027	G	T	18	76923071	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.G3552T:p.R1184S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.G3552T:p.R1184S;ENSG00000130856:ENST00000543926:exon21:c.G3552T:p.R1184S;ENSG00000130856:ENST00000320610:exon21:c.G3558T:p.R1186S;	0.99711773043394	0.894
18	74635028	C	A	18	76923072	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.C3553A:p.H1185N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.C3553A:p.H1185N;ENSG00000130856:ENST00000543926:exon21:c.C3553A:p.H1185N;ENSG00000130856:ENST00000320610:exon21:c.C3559A:p.H1187N;	0.976841905333615	0.728
18	74635028	C	G	18	76923072	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.C3553G:p.H1185D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.C3553G:p.H1185D;ENSG00000130856:ENST00000543926:exon21:c.C3553G:p.H1185D;ENSG00000130856:ENST00000320610:exon21:c.C3559G:p.H1187D;	0.966129670288985	0.802
18	74635028	C	T	18	76923072	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.C3553T:p.H1185Y;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.C3553T:p.H1185Y;ENSG00000130856:ENST00000543926:exon21:c.C3553T:p.H1185Y;ENSG00000130856:ENST00000320610:exon21:c.C3559T:p.H1187Y;	0.980442525233565	0.818
18	74635128	C	A	18	76923172	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.C3653A:p.T1218K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.C3653A:p.T1218K;ENSG00000130856:ENST00000543926:exon21:c.C3653A:p.T1218K;ENSG00000130856:ENST00000320610:exon21:c.C3659A:p.T1220K;	0.92009557705468	0.754
18	74635128	C	G	18	76923172	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.C3653G:p.T1218R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.C3653G:p.T1218R;ENSG00000130856:ENST00000543926:exon21:c.C3653G:p.T1218R;ENSG00000130856:ENST00000320610:exon21:c.C3659G:p.T1220R;	0.860197943030157	0.626
18	74635128	C	T	18	76923172	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.C3653T:p.T1218I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.C3653T:p.T1218I;ENSG00000130856:ENST00000543926:exon21:c.C3653T:p.T1218I;ENSG00000130856:ENST00000320610:exon21:c.C3659T:p.T1220I;	0.997358169588534	0.65
18	74635129	A	C	18	76923173	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon21:c.A3654C:p.T1218T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.A3654C:p.T1218T;ENSG00000130856:ENST00000543926:exon21:c.A3654C:p.T1218T;ENSG00000130856:ENST00000320610:exon21:c.A3660C:p.T1220T;	0.311756959096844	0.42
18	74635129	A	G	18	76923173	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon21:c.A3654G:p.T1218T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.A3654G:p.T1218T;ENSG00000130856:ENST00000543926:exon21:c.A3654G:p.T1218T;ENSG00000130856:ENST00000320610:exon21:c.A3660G:p.T1220T;	0.319725535169126	0.356
18	74635129	A	T	18	76923173	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon21:c.A3654T:p.T1218T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.A3654T:p.T1218T;ENSG00000130856:ENST00000543926:exon21:c.A3654T:p.T1218T;ENSG00000130856:ENST00000320610:exon21:c.A3660T:p.T1220T;	0.543188215488194	0.416
18	74635130	G	A	18	76923174	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.G3655A:p.G1219S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.G3655A:p.G1219S;ENSG00000130856:ENST00000543926:exon21:c.G3655A:p.G1219S;ENSG00000130856:ENST00000320610:exon21:c.G3661A:p.G1221S;	0.999781943023223	0.998
18	74635130	G	C	18	76923174	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.G3655C:p.G1219R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.G3655C:p.G1219R;ENSG00000130856:ENST00000543926:exon21:c.G3655C:p.G1219R;ENSG00000130856:ENST00000320610:exon21:c.G3661C:p.G1221R;	0.999962458038571	0.976
18	74635130	G	T	18	76923174	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon21:c.G3655T:p.G1219C;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon21:c.G3655T:p.G1219C;ENSG00000130856:ENST00000543926:exon21:c.G3655T:p.G1219C;ENSG00000130856:ENST00000320610:exon21:c.G3661T:p.G1221C;	0.999711936920001	0.984
18	74635131	G	A	18	76923175	y	y	splicing	ZNF236(NM_007345:exon21:c.3655+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3661+1G>A;ENST00000253159:exon21:c.3655+1G>A;ENST00000543926:exon21:c.3655+1G>A)	.	.	0.999981760802075	0.942
18	74635131	G	C	18	76923175	y	y	splicing	ZNF236(NM_007345:exon21:c.3655+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3661+1G>C;ENST00000253159:exon21:c.3655+1G>C;ENST00000543926:exon21:c.3655+1G>C)	.	.	0.999981760802075	0.896
18	74635131	G	T	18	76923175	y	y	splicing	ZNF236(NM_007345:exon21:c.3655+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3661+1G>T;ENST00000253159:exon21:c.3655+1G>T;ENST00000543926:exon21:c.3655+1G>T)	.	.	0.999981760802075	0.942
18	74635132	T	A	18	76923176	y	y	splicing	ZNF236(NM_007345:exon21:c.3655+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3661+2T>A;ENST00000253159:exon21:c.3655+2T>A;ENST00000543926:exon21:c.3655+2T>A)	.	.	0.999989917668626	0.926
18	74635132	T	C	18	76923176	y	y	splicing	ZNF236(NM_007345:exon21:c.3655+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3661+2T>C;ENST00000253159:exon21:c.3655+2T>C;ENST00000543926:exon21:c.3655+2T>C)	.	.	0.988809971481602	0.63
18	74635132	T	G	18	76923176	y	y	splicing	ZNF236(NM_007345:exon21:c.3655+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon21:c.3661+2T>G;ENST00000253159:exon21:c.3655+2T>G;ENST00000543926:exon21:c.3655+2T>G)	.	.	0.999989917668626	0.926
18	74635133	A	C	18	76923177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.419345734237607	0.414
18	74635133	A	G	18	76923177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.59744826325229E-4	0.006
18	74635133	A	T	18	76923177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.286167519410003	0.36
18	74635134	A	C	18	76923178	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0368150443588228	0.298
18	74635134	A	G	18	76923178	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.102583559257733	0.342
18	74635134	A	T	18	76923178	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0415713902938358	0.278
18	74635135	G	A	18	76923179	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.949729283038269	0.628
18	74635135	G	C	18	76923179	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.566699869314259	0.484
18	74635135	G	T	18	76923179	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.75180481490602	0.528
18	74635136	G	A	18	76923180	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.73555883493924E-5	0.008
18	74635136	G	C	18	76923180	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.99754361310053E-5	0.004
18	74635136	G	T	18	76923180	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.35926719620348E-5	0.0
18	74635137	A	C	18	76923181	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.52297880296295E-5	0.002
18	74635137	A	G	18	76923181	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.73659410988803E-5	0.0
18	74635137	A	T	18	76923181	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.73659410988803E-5	0.0
18	74635138	A	C	18	76923182	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.5130317145273E-6	0.002
18	74635138	A	G	18	76923182	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.30198285153548E-5	0.0
18	74635138	A	T	18	76923182	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.48519371611462E-5	0.0
18	74637133	G	A	18	76925177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997249908018295	0.942
18	74637133	G	C	18	76925177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.16309834925792E-5	0.028
18	74637133	G	T	18	76925177	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.91804778859999E-5	0.05
18	74637134	G	A	18	76925178	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.73204046054358E-5	0.008
18	74637134	G	C	18	76925178	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.6858594992653E-5	0.0
18	74637134	G	T	18	76925178	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.14443255838104E-5	0.0
18	74637135	C	A	18	76925179	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.60297279051944E-4	0.026
18	74637135	C	G	18	76925179	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00248431053263204	0.048
18	74637135	C	T	18	76925179	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.86936725642124E-4	0.0
18	74637136	T	A	18	76925180	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00687711623262945	0.234
18	74637136	T	C	18	76925180	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.22834635008132E-4	0.03
18	74637136	T	G	18	76925180	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0150281871670751	0.27
18	74637137	T	A	18	76925181	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00453297482730946	0.13
18	74637137	T	C	18	76925181	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.81008045776827E-5	0.0
18	74637137	T	G	18	76925181	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00107413225202002	0.022
18	74637138	T	A	18	76925182	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.153670333583824	0.302
18	74637138	T	C	18	76925182	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.25502705556526E-4	0.06
18	74637138	T	G	18	76925182	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0147601807255767	0.2
18	74637139	T	A	18	76925183	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00558163180915085	0.13
18	74637139	T	C	18	76925183	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.61116367427499E-5	0.006
18	74637139	T	G	18	76925183	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00939339498738057	0.174
18	74637140	C	A	18	76925184	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.05512058976721E-4	0.044
18	74637140	C	G	18	76925184	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.86619759566524E-4	0.038
18	74637140	C	T	18	76925184	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.38345356858058E-5	0.0
18	74637141	A	C	18	76925185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.29492448970376E-5	0.026
18	74637141	A	G	18	76925185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.55070419144293E-5	0.02
18	74637141	A	T	18	76925185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.5388742383164E-5	0.0
18	74637142	C	A	18	76925186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.508649172555773	0.632
18	74637142	C	G	18	76925186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999741881910654	0.924
18	74637142	C	T	18	76925186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00434240074439422	0.072
18	74637143	A	C	18	76925187	y	y	splicing	ZNF236(NM_007345:exon22:c.3656-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.3662-2A>C;ENST00000253159:exon22:c.3656-2A>C;ENST00000543926:exon22:c.3656-2A>C)	.	.	0.999955107838025	0.922
18	74637143	A	G	18	76925187	y	y	splicing	ZNF236(NM_007345:exon22:c.3656-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.3662-2A>G;ENST00000253159:exon22:c.3656-2A>G;ENST00000543926:exon22:c.3656-2A>G)	.	.	0.999955107838025	0.92
18	74637143	A	T	18	76925187	y	y	splicing	ZNF236(NM_007345:exon22:c.3656-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.3662-2A>T;ENST00000253159:exon22:c.3656-2A>T;ENST00000543926:exon22:c.3656-2A>T)	.	.	0.999975750423868	0.92
18	74637144	G	A	18	76925188	y	y	splicing	ZNF236(NM_007345:exon22:c.3656-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.3662-1G>A;ENST00000253159:exon22:c.3656-1G>A;ENST00000543926:exon22:c.3656-1G>A)	.	.	0.999981760802075	0.944
18	74637144	G	C	18	76925188	y	y	splicing	ZNF236(NM_007345:exon22:c.3656-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.3662-1G>C;ENST00000253159:exon22:c.3656-1G>C;ENST00000543926:exon22:c.3656-1G>C)	.	.	0.999981760802075	0.944
18	74637144	G	T	18	76925188	y	y	splicing	ZNF236(NM_007345:exon22:c.3656-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.3662-1G>T;ENST00000253159:exon22:c.3656-1G>T;ENST00000543926:exon22:c.3656-1G>T)	.	.	0.999981760802075	0.944
18	74637145	G	A	18	76925189	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon22:c.G3656A:p.G1219D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.G3656A:p.G1219D;ENSG00000130856:ENST00000543926:exon22:c.G3656A:p.G1219D;ENSG00000130856:ENST00000320610:exon22:c.G3662A:p.G1221D;	0.999539617043849	0.842
18	74637145	G	C	18	76925189	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon22:c.G3656C:p.G1219A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.G3656C:p.G1219A;ENSG00000130856:ENST00000543926:exon22:c.G3656C:p.G1219A;ENSG00000130856:ENST00000320610:exon22:c.G3662C:p.G1221A;	0.99979686147508	0.978
18	74637145	G	T	18	76925189	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon22:c.G3656T:p.G1219V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.G3656T:p.G1219V;ENSG00000130856:ENST00000543926:exon22:c.G3656T:p.G1219V;ENSG00000130856:ENST00000320610:exon22:c.G3662T:p.G1221V;	0.999864111341839	0.996
18	74637146	T	A	18	76925190	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon22:c.T3657A:p.G1219G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.T3657A:p.G1219G;ENSG00000130856:ENST00000543926:exon22:c.T3657A:p.G1219G;ENSG00000130856:ENST00000320610:exon22:c.T3663A:p.G1221G;	3.41783938521134E-4	0.012
18	74637146	T	C	18	76925190	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon22:c.T3657C:p.G1219G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.T3657C:p.G1219G;ENSG00000130856:ENST00000543926:exon22:c.T3657C:p.G1219G;ENSG00000130856:ENST00000320610:exon22:c.T3663C:p.G1221G;	2.33430700979975E-4	0.03
18	74637146	T	G	18	76925190	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon22:c.T3657G:p.G1219G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.T3657G:p.G1219G;ENSG00000130856:ENST00000543926:exon22:c.T3657G:p.G1219G;ENSG00000130856:ENST00000320610:exon22:c.T3663G:p.G1221G;	7.06871630960058E-4	0.026
18	74637508	C	A	18	76925552	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon22:c.C4019A:p.S1340X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon22:c.C4019A:p.S1340X;ENSG00000130856:ENST00000543926:exon22:c.C4019A:p.S1340X;ENSG00000130856:ENST00000320610:exon22:c.C4025A:p.S1342X;	0.822962592969945	0.844
18	74637508	C	G	18	76925552	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon22:c.C4019G:p.S1340X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon22:c.C4019G:p.S1340X;ENSG00000130856:ENST00000543926:exon22:c.C4019G:p.S1340X;ENSG00000130856:ENST00000320610:exon22:c.C4025G:p.S1342X;	0.91832109984913	0.642
18	74637508	C	T	18	76925552	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon22:c.C4019T:p.S1340L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.C4019T:p.S1340L;ENSG00000130856:ENST00000543926:exon22:c.C4019T:p.S1340L;ENSG00000130856:ENST00000320610:exon22:c.C4025T:p.S1342L;	0.99938437639033	0.96
18	74637509	A	C	18	76925553	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon22:c.A4020C:p.S1340S;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.A4020C:p.S1340S;ENSG00000130856:ENST00000543926:exon22:c.A4020C:p.S1340S;ENSG00000130856:ENST00000320610:exon22:c.A4026C:p.S1342S;	0.746986482575195	0.638
18	74637509	A	G	18	76925553	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon22:c.A4020G:p.S1340S;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.A4020G:p.S1340S;ENSG00000130856:ENST00000543926:exon22:c.A4020G:p.S1340S;ENSG00000130856:ENST00000320610:exon22:c.A4026G:p.S1342S;	0.971928421758397	0.748
18	74637509	A	T	18	76925553	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon22:c.A4020T:p.S1340S;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.A4020T:p.S1340S;ENSG00000130856:ENST00000543926:exon22:c.A4020T:p.S1340S;ENSG00000130856:ENST00000320610:exon22:c.A4026T:p.S1342S;	0.970241006088704	0.758
18	74637510	G	A	18	76925554	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon22:c.G4021A:p.A1341T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.G4021A:p.A1341T;ENSG00000130856:ENST00000543926:exon22:c.G4021A:p.A1341T;ENSG00000130856:ENST00000320610:exon22:c.G4027A:p.A1343T;	0.999991981217087	1.0
18	74637510	G	C	18	76925554	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon22:c.G4021C:p.A1341P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.G4021C:p.A1341P;ENSG00000130856:ENST00000543926:exon22:c.G4021C:p.A1341P;ENSG00000130856:ENST00000320610:exon22:c.G4027C:p.A1343P;	0.999998312535482	1.0
18	74637510	G	T	18	76925554	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon22:c.G4021T:p.A1341S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon22:c.G4021T:p.A1341S;ENSG00000130856:ENST00000543926:exon22:c.G4021T:p.A1341S;ENSG00000130856:ENST00000320610:exon22:c.G4027T:p.A1343S;	0.999990846406755	0.988
18	74637511	G	A	18	76925555	y	y	splicing	ZNF236(NM_007345:exon22:c.4021+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.4027+1G>A;ENST00000253159:exon22:c.4021+1G>A;ENST00000543926:exon22:c.4021+1G>A)	.	.	0.999938990645747	0.948
18	74637511	G	C	18	76925555	y	y	splicing	ZNF236(NM_007345:exon22:c.4021+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.4027+1G>C;ENST00000253159:exon22:c.4021+1G>C;ENST00000543926:exon22:c.4021+1G>C)	.	.	0.999960200702261	0.94
18	74637511	G	T	18	76925555	y	y	splicing	ZNF236(NM_007345:exon22:c.4021+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.4027+1G>T;ENST00000253159:exon22:c.4021+1G>T;ENST00000543926:exon22:c.4021+1G>T)	.	.	0.999938990645747	0.942
18	74637512	T	A	18	76925556	y	y	splicing	ZNF236(NM_007345:exon22:c.4021+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.4027+2T>A;ENST00000253159:exon22:c.4021+2T>A;ENST00000543926:exon22:c.4021+2T>A)	.	.	0.999978672009528	0.934
18	74637512	T	C	18	76925556	y	y	splicing	ZNF236(NM_007345:exon22:c.4021+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.4027+2T>C;ENST00000253159:exon22:c.4021+2T>C;ENST00000543926:exon22:c.4021+2T>C)	.	.	0.964891800487746	0.556
18	74637512	T	G	18	76925556	y	y	splicing	ZNF236(NM_007345:exon22:c.4021+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon22:c.4027+2T>G;ENST00000253159:exon22:c.4021+2T>G;ENST00000543926:exon22:c.4021+2T>G)	.	.	0.999977928046871	0.914
18	74637513	A	C	18	76925557	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.976151161406371	0.524
18	74637513	A	G	18	76925557	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0557042367178685	0.372
18	74637513	A	T	18	76925557	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994866661241088	0.532
18	74637514	A	C	18	76925558	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0686259741463	0.392
18	74637514	A	G	18	76925558	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0827066708692251	0.344
18	74637514	A	T	18	76925558	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.204799464431642	0.412
18	74637515	A	C	18	76925559	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.47381220114661E-4	0.01
18	74637515	A	G	18	76925559	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.90373283875075E-5	0.002
18	74637515	A	T	18	76925559	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.80070095975298E-4	0.008
18	74637516	C	A	18	76925560	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.48070078074821E-5	0.004
18	74637516	C	G	18	76925560	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.68146865912832E-5	0.016
18	74637516	C	T	18	76925560	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.64180754726827E-5	0.002
18	74637517	G	A	18	76925561	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.33285134764126E-6	0.0
18	74637517	G	C	18	76925561	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.14943646972724E-5	0.0
18	74637517	G	T	18	76925561	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.89090274872088E-5	0.0
18	74637518	C	A	18	76925562	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.63370024098776E-5	0.0
18	74637518	C	G	18	76925562	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.82257985559896E-5	0.0
18	74637518	C	T	18	76925562	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.58872469374901E-5	0.002
18	74638981	T	A	18	76927025	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.837752570208436	0.614
18	74638981	T	C	18	76927025	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.56170783254945E-4	0.08
18	74638981	T	G	18	76927025	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.240778339156386	0.376
18	74638982	T	A	18	76927026	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.970199479660979	0.718
18	74638982	T	C	18	76927026	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00362341980100456	0.266
18	74638982	T	G	18	76927026	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.917513477175474	0.672
18	74638983	C	A	18	76927027	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0618738052461026	0.152
18	74638983	C	G	18	76927027	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00940665506507259	0.058
18	74638983	C	T	18	76927027	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00198367879385892	0.066
18	74638984	T	A	18	76927028	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.780208364275368	0.508
18	74638984	T	C	18	76927028	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.57990160242408E-5	0.046
18	74638984	T	G	18	76927028	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.342259764915847	0.428
18	74638985	C	A	18	76927029	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.3095181190323E-4	0.06
18	74638985	C	G	18	76927029	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.11705965371283E-4	0.06
18	74638985	C	T	18	76927029	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.88929341596187E-5	0.004
18	74638986	T	A	18	76927030	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999759076543855	0.974
18	74638986	T	C	18	76927030	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.35612320016261E-4	0.086
18	74638986	T	G	18	76927030	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.080872490393714	0.392
18	74638987	G	A	18	76927031	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999191511492449	0.872
18	74638987	G	C	18	76927031	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.05893517616868E-4	0.032
18	74638987	G	T	18	76927031	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.37557097394249E-4	0.022
18	74638988	G	A	18	76927032	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.70068805011095E-5	0.002
18	74638988	G	C	18	76927032	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.65483660211669E-5	0.002
18	74638988	G	T	18	76927032	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.98501777021816E-5	0.0
18	74638989	C	A	18	76927033	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.14071481977706E-4	0.002
18	74638989	C	G	18	76927033	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.96894789163698E-4	0.008
18	74638989	C	T	18	76927033	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.4031350855558E-4	0.002
18	74638990	C	A	18	76927034	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.899080421611555	0.68
18	74638990	C	G	18	76927034	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.993012659071774	0.858
18	74638990	C	T	18	76927034	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.75520404854505E-4	0.02
18	74638991	A	C	18	76927035	y	y	splicing	ZNF236(NM_007345:exon23:c.4022-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4028-2A>C;ENST00000253159:exon23:c.4022-2A>C;ENST00000543926:exon23:c.4022-2A>C)	.	.	0.999981808176352	0.912
18	74638991	A	G	18	76927035	y	y	splicing	ZNF236(NM_007345:exon23:c.4022-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4028-2A>G;ENST00000253159:exon23:c.4022-2A>G;ENST00000543926:exon23:c.4022-2A>G)	.	.	0.999981808176352	0.914
18	74638991	A	T	18	76927035	y	y	splicing	ZNF236(NM_007345:exon23:c.4022-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4028-2A>T;ENST00000253159:exon23:c.4022-2A>T;ENST00000543926:exon23:c.4022-2A>T)	.	.	0.999981808176352	0.918
18	74638992	G	A	18	76927036	y	y	splicing	ZNF236(NM_007345:exon23:c.4022-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4028-1G>A;ENST00000253159:exon23:c.4022-1G>A;ENST00000543926:exon23:c.4022-1G>A)	.	.	0.999986675681007	0.926
18	74638992	G	C	18	76927036	y	y	splicing	ZNF236(NM_007345:exon23:c.4022-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4028-1G>C;ENST00000253159:exon23:c.4022-1G>C;ENST00000543926:exon23:c.4022-1G>C)	.	.	0.999986675681007	0.926
18	74638992	G	T	18	76927036	y	y	splicing	ZNF236(NM_007345:exon23:c.4022-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4028-1G>T;ENST00000253159:exon23:c.4022-1G>T;ENST00000543926:exon23:c.4022-1G>T)	.	.	0.999986675681007	0.926
18	74638993	C	A	18	76927037	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.C4022A:p.A1341D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.C4022A:p.A1341D;ENSG00000130856:ENST00000543926:exon23:c.C4022A:p.A1341D;ENSG00000130856:ENST00000320610:exon23:c.C4028A:p.A1343D;	0.0301777398528223	0.39
18	74638993	C	G	18	76927037	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.C4022G:p.A1341G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.C4022G:p.A1341G;ENSG00000130856:ENST00000543926:exon23:c.C4022G:p.A1341G;ENSG00000130856:ENST00000320610:exon23:c.C4028G:p.A1343G;	0.00130353734615354	0.168
18	74638993	C	T	18	76927037	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.C4022T:p.A1341V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.C4022T:p.A1341V;ENSG00000130856:ENST00000543926:exon23:c.C4022T:p.A1341V;ENSG00000130856:ENST00000320610:exon23:c.C4028T:p.A1343V;	0.131181832195229	0.354
18	74638994	T	A	18	76927038	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon23:c.T4023A:p.A1341A;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.T4023A:p.A1341A;ENSG00000130856:ENST00000543926:exon23:c.T4023A:p.A1341A;ENSG00000130856:ENST00000320610:exon23:c.T4029A:p.A1343A;	0.0031909454280275	0.08
18	74638994	T	C	18	76927038	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon23:c.T4023C:p.A1341A;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.T4023C:p.A1341A;ENSG00000130856:ENST00000543926:exon23:c.T4023C:p.A1341A;ENSG00000130856:ENST00000320610:exon23:c.T4029C:p.A1343A;	3.42206826509111E-4	0.106
18	74638994	T	G	18	76927038	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon23:c.T4023G:p.A1341A;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.T4023G:p.A1341A;ENSG00000130856:ENST00000543926:exon23:c.T4023G:p.A1341A;ENSG00000130856:ENST00000320610:exon23:c.T4029G:p.A1343A;	4.49274555334788E-4	0.078
18	74639136	C	A	18	76927180	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.C4165A:p.Q1389K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.C4165A:p.Q1389K;ENSG00000130856:ENST00000543926:exon23:c.C4165A:p.Q1389K;ENSG00000130856:ENST00000320610:exon23:c.C4171A:p.Q1391K;	0.92997082653539	0.794
18	74639136	C	G	18	76927180	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.C4165G:p.Q1389E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.C4165G:p.Q1389E;ENSG00000130856:ENST00000543926:exon23:c.C4165G:p.Q1389E;ENSG00000130856:ENST00000320610:exon23:c.C4171G:p.Q1391E;	0.94525081698727	0.68
18	74639136	C	T	18	76927180	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon23:c.C4165T:p.Q1389X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon23:c.C4165T:p.Q1389X;ENSG00000130856:ENST00000543926:exon23:c.C4165T:p.Q1389X;ENSG00000130856:ENST00000320610:exon23:c.C4171T:p.Q1391X;	0.999650764361844	0.966
18	74639137	A	C	18	76927181	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.A4166C:p.Q1389P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.A4166C:p.Q1389P;ENSG00000130856:ENST00000543926:exon23:c.A4166C:p.Q1389P;ENSG00000130856:ENST00000320610:exon23:c.A4172C:p.Q1391P;	0.999663061428786	0.972
18	74639137	A	G	18	76927181	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.A4166G:p.Q1389R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.A4166G:p.Q1389R;ENSG00000130856:ENST00000543926:exon23:c.A4166G:p.Q1389R;ENSG00000130856:ENST00000320610:exon23:c.A4172G:p.Q1391R;	0.999750306427749	0.988
18	74639137	A	T	18	76927181	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.A4166T:p.Q1389L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.A4166T:p.Q1389L;ENSG00000130856:ENST00000543926:exon23:c.A4166T:p.Q1389L;ENSG00000130856:ENST00000320610:exon23:c.A4172T:p.Q1391L;	0.999809061439551	0.99
18	74639138	G	A	18	76927182	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon23:c.G4167A:p.Q1389Q;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.G4167A:p.Q1389Q;ENSG00000130856:ENST00000543926:exon23:c.G4167A:p.Q1389Q;ENSG00000130856:ENST00000320610:exon23:c.G4173A:p.Q1391Q;	0.999409246661433	0.94
18	74639138	G	C	18	76927182	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.G4167C:p.Q1389H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.G4167C:p.Q1389H;ENSG00000130856:ENST00000543926:exon23:c.G4167C:p.Q1389H;ENSG00000130856:ENST00000320610:exon23:c.G4173C:p.Q1391H;	0.999992127327534	0.998
18	74639138	G	T	18	76927182	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon23:c.G4167T:p.Q1389H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon23:c.G4167T:p.Q1389H;ENSG00000130856:ENST00000543926:exon23:c.G4167T:p.Q1389H;ENSG00000130856:ENST00000320610:exon23:c.G4173T:p.Q1391H;	0.999973321145269	0.99
18	74639139	G	A	18	76927183	y	y	splicing	ZNF236(NM_007345:exon23:c.4167+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4173+1G>A;ENST00000253159:exon23:c.4167+1G>A;ENST00000543926:exon23:c.4167+1G>A)	.	.	0.999978952611685	0.922
18	74639139	G	C	18	76927183	y	y	splicing	ZNF236(NM_007345:exon23:c.4167+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4173+1G>C;ENST00000253159:exon23:c.4167+1G>C;ENST00000543926:exon23:c.4167+1G>C)	.	.	0.999970661931818	0.916
18	74639139	G	T	18	76927183	y	y	splicing	ZNF236(NM_007345:exon23:c.4167+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4173+1G>T;ENST00000253159:exon23:c.4167+1G>T;ENST00000543926:exon23:c.4167+1G>T)	.	.	0.999978952611685	0.916
18	74639140	T	A	18	76927184	y	y	splicing	ZNF236(NM_007345:exon23:c.4167+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4173+2T>A;ENST00000253159:exon23:c.4167+2T>A;ENST00000543926:exon23:c.4167+2T>A)	.	.	0.99996509239462	0.936
18	74639140	T	C	18	76927184	y	y	splicing	ZNF236(NM_007345:exon23:c.4167+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4173+2T>C;ENST00000253159:exon23:c.4167+2T>C;ENST00000543926:exon23:c.4167+2T>C)	.	.	0.955315639458846	0.628
18	74639140	T	G	18	76927184	y	y	splicing	ZNF236(NM_007345:exon23:c.4167+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon23:c.4173+2T>G;ENST00000253159:exon23:c.4167+2T>G;ENST00000543926:exon23:c.4167+2T>G)	.	.	0.99996509239462	0.938
18	74639141	A	C	18	76927185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.995321434803069	0.642
18	74639141	A	G	18	76927185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.883428920309807	0.524
18	74639141	A	T	18	76927185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.992719051546923	0.6
18	74639142	T	A	18	76927186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.40812264239045E-5	0.106
18	74639142	T	C	18	76927186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.31859780403457E-5	0.016
18	74639142	T	G	18	76927186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.93124992151213E-6	0.006
18	74639143	G	A	18	76927187	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.716479431005752	0.598
18	74639143	G	C	18	76927187	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.977229511849788	0.708
18	74639143	G	T	18	76927187	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.950509738266096	0.69
18	74639144	A	C	18	76927188	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.94894931014357E-5	0.024
18	74639144	A	G	18	76927188	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.92808995239302E-6	0.002
18	74639144	A	T	18	76927188	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.18101770628721E-5	0.0
18	74639145	C	A	18	76927189	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.49349333464341E-5	0.0
18	74639145	C	G	18	76927189	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.49349333464341E-5	0.0
18	74639145	C	T	18	76927189	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.46596526554591E-5	0.0
18	74639146	A	C	18	76927190	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.28882565731292E-5	0.0
18	74639146	A	G	18	76927190	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.04860152160254E-5	0.0
18	74639146	A	T	18	76927190	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.61972261286381E-5	0.0
18	74639221	G	A	18	76927265	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.46878425642444E-4	0.006
18	74639221	G	C	18	76927265	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.42560260896997E-4	0.006
18	74639221	G	T	18	76927265	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.42560260896997E-4	0.026
18	74639222	C	A	18	76927266	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.87182556153075E-4	0.016
18	74639222	C	G	18	76927266	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.47768083044481E-4	0.002
18	74639222	C	T	18	76927266	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.0291873933743E-5	0.002
18	74639223	T	A	18	76927267	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999979340040936	0.974
18	74639223	T	C	18	76927267	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.63271034516559E-5	0.036
18	74639223	T	G	18	76927267	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0149402628325806	0.27
18	74639224	G	A	18	76927268	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.66634231185525E-4	0.02
18	74639224	G	C	18	76927268	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.31488969230776E-4	0.0
18	74639224	G	T	18	76927268	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.64888869389144E-4	0.01
18	74639225	C	A	18	76927269	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.25347692065152E-4	0.016
18	74639225	C	G	18	76927269	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.63688581609049E-4	0.032
18	74639225	C	T	18	76927269	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.73684796290578E-5	0.0
18	74639226	T	A	18	76927270	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00372282832403592	0.022
18	74639226	T	C	18	76927270	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.10955287957335E-4	0.01
18	74639226	T	G	18	76927270	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.006393648440186	0.014
18	74639227	T	A	18	76927271	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.539895409827302	0.472
18	74639227	T	C	18	76927271	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.19601170123578E-4	0.008
18	74639227	T	G	18	76927271	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.820244917799847	0.542
18	74639228	T	A	18	76927272	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.584911838962811	0.378
18	74639228	T	C	18	76927272	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0021579612208348	0.136
18	74639228	T	G	18	76927272	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.292693918589175	0.372
18	74639229	T	A	18	76927273	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.10097300737028E-5	0.0
18	74639229	T	C	18	76927273	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.76759476890216E-5	0.054
18	74639229	T	G	18	76927273	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.38754606676552E-6	0.002
18	74639230	C	A	18	76927274	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.650391846106288	0.626
18	74639230	C	G	18	76927274	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998811549662881	0.926
18	74639230	C	T	18	76927274	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00343839913827287	0.122
18	74639231	A	C	18	76927275	y	y	splicing	ZNF236(NM_007345:exon24:c.4168-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4174-2A>C;ENST00000253159:exon24:c.4168-2A>C;ENST00000543926:exon24:c.4168-2A>C)	.	.	0.999971317418422	0.892
18	74639231	A	G	18	76927275	y	y	splicing	ZNF236(NM_007345:exon24:c.4168-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4174-2A>G;ENST00000253159:exon24:c.4168-2A>G;ENST00000543926:exon24:c.4168-2A>G)	.	.	0.999971317418422	0.892
18	74639231	A	T	18	76927275	y	y	splicing	ZNF236(NM_007345:exon24:c.4168-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4174-2A>T;ENST00000253159:exon24:c.4168-2A>T;ENST00000543926:exon24:c.4168-2A>T)	.	.	0.999971317418422	0.894
18	74639232	G	A	18	76927276	y	y	splicing	ZNF236(NM_007345:exon24:c.4168-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4174-1G>A;ENST00000253159:exon24:c.4168-1G>A;ENST00000543926:exon24:c.4168-1G>A)	.	.	0.999949496871441	0.94
18	74639232	G	C	18	76927276	y	y	splicing	ZNF236(NM_007345:exon24:c.4168-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4174-1G>C;ENST00000253159:exon24:c.4168-1G>C;ENST00000543926:exon24:c.4168-1G>C)	.	.	0.999949962508874	0.94
18	74639232	G	T	18	76927276	y	y	splicing	ZNF236(NM_007345:exon24:c.4168-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4174-1G>T;ENST00000253159:exon24:c.4168-1G>T;ENST00000543926:exon24:c.4168-1G>T)	.	.	0.999949496871441	0.94
18	74639233	A	C	18	76927277	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.A4168C:p.I1390L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.A4168C:p.I1390L;ENSG00000130856:ENST00000543926:exon24:c.A4168C:p.I1390L;ENSG00000130856:ENST00000320610:exon24:c.A4174C:p.I1392L;	0.555285131458605	0.516
18	74639233	A	G	18	76927277	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.A4168G:p.I1390V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.A4168G:p.I1390V;ENSG00000130856:ENST00000543926:exon24:c.A4168G:p.I1390V;ENSG00000130856:ENST00000320610:exon24:c.A4174G:p.I1392V;	0.0988496927765825	0.27
18	74639233	A	T	18	76927277	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.A4168T:p.I1390F;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.A4168T:p.I1390F;ENSG00000130856:ENST00000543926:exon24:c.A4168T:p.I1390F;ENSG00000130856:ENST00000320610:exon24:c.A4174T:p.I1392F;	0.555285131458605	0.472
18	74639234	T	A	18	76927278	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.T4169A:p.I1390N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.T4169A:p.I1390N;ENSG00000130856:ENST00000543926:exon24:c.T4169A:p.I1390N;ENSG00000130856:ENST00000320610:exon24:c.T4175A:p.I1392N;	0.68587685302623	0.266
18	74639234	T	C	18	76927278	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.T4169C:p.I1390T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.T4169C:p.I1390T;ENSG00000130856:ENST00000543926:exon24:c.T4169C:p.I1390T;ENSG00000130856:ENST00000320610:exon24:c.T4175C:p.I1392T;	0.482116871808391	0.354
18	74639234	T	G	18	76927278	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.T4169G:p.I1390S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.T4169G:p.I1390S;ENSG00000130856:ENST00000543926:exon24:c.T4169G:p.I1390S;ENSG00000130856:ENST00000320610:exon24:c.T4175G:p.I1392S;	0.493576833494575	0.336
18	74639471	G	A	18	76927515	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.G4406A:p.S1469N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.G4406A:p.S1469N;ENSG00000130856:ENST00000543926:exon24:c.G4406A:p.S1469N;ENSG00000130856:ENST00000320610:exon24:c.G4412A:p.S1471N;	8.92905480237892E-5	0.002
18	74639471	G	C	18	76927515	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.G4406C:p.S1469T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.G4406C:p.S1469T;ENSG00000130856:ENST00000543926:exon24:c.G4406C:p.S1469T;ENSG00000130856:ENST00000320610:exon24:c.G4412C:p.S1471T;	6.12906265674226E-5	0.034
18	74639471	G	T	18	76927515	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.G4406T:p.S1469I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.G4406T:p.S1469I;ENSG00000130856:ENST00000543926:exon24:c.G4406T:p.S1469I;ENSG00000130856:ENST00000320610:exon24:c.G4412T:p.S1471I;	2.1602060507002E-4	0.036
18	74639472	T	A	18	76927516	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.T4407A:p.S1469R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.T4407A:p.S1469R;ENSG00000130856:ENST00000543926:exon24:c.T4407A:p.S1469R;ENSG00000130856:ENST00000320610:exon24:c.T4413A:p.S1471R;	3.15478144245519E-5	0.108
18	74639472	T	C	18	76927516	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon24:c.T4407C:p.S1469S;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.T4407C:p.S1469S;ENSG00000130856:ENST00000543926:exon24:c.T4407C:p.S1469S;ENSG00000130856:ENST00000320610:exon24:c.T4413C:p.S1471S;	1.16732144431191E-5	0.002
18	74639472	T	G	18	76927516	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.T4407G:p.S1469R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.T4407G:p.S1469R;ENSG00000130856:ENST00000543926:exon24:c.T4407G:p.S1469R;ENSG00000130856:ENST00000320610:exon24:c.T4413G:p.S1471R;	2.71431316330938E-4	0.04
18	74639473	G	A	18	76927517	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.G4408A:p.G1470R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.G4408A:p.G1470R;ENSG00000130856:ENST00000543926:exon24:c.G4408A:p.G1470R;ENSG00000130856:ENST00000320610:exon24:c.G4414A:p.G1472R;	0.999956476977516	0.998
18	74639473	G	C	18	76927517	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.G4408C:p.G1470R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.G4408C:p.G1470R;ENSG00000130856:ENST00000543926:exon24:c.G4408C:p.G1470R;ENSG00000130856:ENST00000320610:exon24:c.G4414C:p.G1472R;	0.999991186006083	0.97
18	74639473	G	T	18	76927517	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon24:c.G4408T:p.G1470W;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon24:c.G4408T:p.G1470W;ENSG00000130856:ENST00000543926:exon24:c.G4408T:p.G1470W;ENSG00000130856:ENST00000320610:exon24:c.G4414T:p.G1472W;	0.999976347235549	0.988
18	74639474	G	A	18	76927518	y	y	splicing	ZNF236(NM_007345:exon24:c.4408+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4414+1G>A;ENST00000253159:exon24:c.4408+1G>A;ENST00000543926:exon24:c.4408+1G>A)	.	.	0.99995545544995	0.946
18	74639474	G	C	18	76927518	y	y	splicing	ZNF236(NM_007345:exon24:c.4408+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4414+1G>C;ENST00000253159:exon24:c.4408+1G>C;ENST00000543926:exon24:c.4408+1G>C)	.	.	0.99995545544995	0.948
18	74639474	G	T	18	76927518	y	y	splicing	ZNF236(NM_007345:exon24:c.4408+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4414+1G>T;ENST00000253159:exon24:c.4408+1G>T;ENST00000543926:exon24:c.4408+1G>T)	.	.	0.99995545544995	0.948
18	74639475	T	A	18	76927519	y	y	splicing	ZNF236(NM_007345:exon24:c.4408+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4414+2T>A;ENST00000253159:exon24:c.4408+2T>A;ENST00000543926:exon24:c.4408+2T>A)	.	.	0.999951957019574	0.884
18	74639475	T	C	18	76927519	y	y	splicing	ZNF236(NM_007345:exon24:c.4408+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4414+2T>C;ENST00000253159:exon24:c.4408+2T>C;ENST00000543926:exon24:c.4408+2T>C)	.	.	0.999777348398491	0.83
18	74639475	T	G	18	76927519	y	y	splicing	ZNF236(NM_007345:exon24:c.4408+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon24:c.4414+2T>G;ENST00000253159:exon24:c.4408+2T>G;ENST00000543926:exon24:c.4408+2T>G)	.	.	0.999971317418422	0.898
18	74639476	A	C	18	76927520	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.979910744134917	0.682
18	74639476	A	G	18	76927520	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00928645306430786	0.16
18	74639476	A	T	18	76927520	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.977859337812433	0.674
18	74639477	A	C	18	76927521	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.430449680908225	0.442
18	74639477	A	G	18	76927521	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.981341076850744	0.566
18	74639477	A	T	18	76927521	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.774705803562966	0.512
18	74639478	G	A	18	76927522	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999435634708677	0.946
18	74639478	G	C	18	76927522	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999761627500334	0.926
18	74639478	G	T	18	76927522	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999633553091103	0.94
18	74639479	A	C	18	76927523	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.25813020661144E-4	0.01
18	74639479	A	G	18	76927523	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.71536460722168E-5	0.0
18	74639479	A	T	18	76927523	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.92026021583808E-5	0.008
18	74639480	G	A	18	76927524	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.58992702814738E-5	0.0
18	74639480	G	C	18	76927524	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.47348756796826E-5	0.0
18	74639480	G	T	18	76927524	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.39534083117357E-5	0.0
18	74639481	C	A	18	76927525	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.69810168643908E-5	0.0
18	74639481	C	G	18	76927525	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.43398154420572E-4	0.0
18	74639481	C	T	18	76927525	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.85814241745654E-5	0.0
18	74639871	A	C	18	76927915	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.42505690852383E-5	0.082
18	74639871	A	G	18	76927915	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.16888733243966E-4	0.08
18	74639871	A	T	18	76927915	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.15979900516524E-5	0.1
18	74639872	A	C	18	76927916	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.40908099670996E-5	0.078
18	74639872	A	G	18	76927916	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.995471365303959	0.88
18	74639872	A	T	18	76927916	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.58995812764573E-4	0.142
18	74639873	T	A	18	76927917	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998945559088739	0.86
18	74639873	T	C	18	76927917	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00254944607193823	0.28
18	74639873	T	G	18	76927917	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999142857891367	0.872
18	74639874	G	A	18	76927918	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.94489887358309E-4	0.058
18	74639874	G	C	18	76927918	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.65928867041809E-5	0.156
18	74639874	G	T	18	76927918	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.09114866365117E-4	0.198
18	74639875	A	C	18	76927919	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.7046487473956E-4	0.046
18	74639875	A	G	18	76927919	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.35222905159968E-4	0.136
18	74639875	A	T	18	76927919	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.44648996854495E-4	0.056
18	74639876	C	A	18	76927920	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00153369288055692	0.14
18	74639876	C	G	18	76927920	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997735898848101	0.934
18	74639876	C	T	18	76927920	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.35974942640353E-5	0.098
18	74639877	A	C	18	76927921	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.03795570512309E-5	0.014
18	74639877	A	G	18	76927921	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.31681495420668E-4	0.066
18	74639877	A	T	18	76927921	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.08697142106392E-5	0.014
18	74639878	A	C	18	76927922	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.3242631400113E-5	0.066
18	74639878	A	G	18	76927922	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998627416808556	0.968
18	74639878	A	T	18	76927922	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.54601161053099E-4	0.108
18	74639879	T	A	18	76927923	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.63809100237607E-4	0.09
18	74639879	T	C	18	76927923	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.60514629490758E-4	0.036
18	74639879	T	G	18	76927923	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99744387089806	0.902
18	74639880	C	A	18	76927924	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999894987059173	0.884
18	74639880	C	G	18	76927924	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999924570935545	0.894
18	74639880	C	T	18	76927924	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.127587755143579	0.232
18	74639881	A	C	18	76927925	y	y	splicing	ZNF236(NM_007345:exon25:c.4409-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4415-2A>C;ENST00000253159:exon25:c.4409-2A>C;ENST00000543926:exon25:c.4409-2A>C)	.	.	0.999908539125455	0.874
18	74639881	A	G	18	76927925	y	y	splicing	ZNF236(NM_007345:exon25:c.4409-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4415-2A>G;ENST00000253159:exon25:c.4409-2A>G;ENST00000543926:exon25:c.4409-2A>G)	.	.	0.999908539125455	0.874
18	74639881	A	T	18	76927925	y	y	splicing	ZNF236(NM_007345:exon25:c.4409-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4415-2A>T;ENST00000253159:exon25:c.4409-2A>T;ENST00000543926:exon25:c.4409-2A>T)	.	.	0.999908539125455	0.876
18	74639882	G	A	18	76927926	y	y	splicing	ZNF236(NM_007345:exon25:c.4409-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4415-1G>A;ENST00000253159:exon25:c.4409-1G>A;ENST00000543926:exon25:c.4409-1G>A)	.	.	0.999974043497117	0.876
18	74639882	G	C	18	76927926	y	y	splicing	ZNF236(NM_007345:exon25:c.4409-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4415-1G>C;ENST00000253159:exon25:c.4409-1G>C;ENST00000543926:exon25:c.4409-1G>C)	.	.	0.999974043497117	0.874
18	74639882	G	T	18	76927926	y	y	splicing	ZNF236(NM_007345:exon25:c.4409-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4415-1G>T;ENST00000253159:exon25:c.4409-1G>T;ENST00000543926:exon25:c.4409-1G>T)	.	.	0.999974043497117	0.876
18	74639883	G	A	18	76927927	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon25:c.G4409A:p.G1470E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.G4409A:p.G1470E;ENSG00000130856:ENST00000543926:exon25:c.G4409A:p.G1470E;ENSG00000130856:ENST00000320610:exon25:c.G4415A:p.G1472E;	0.999669748982533	0.838
18	74639883	G	C	18	76927927	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon25:c.G4409C:p.G1470A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.G4409C:p.G1470A;ENSG00000130856:ENST00000543926:exon25:c.G4409C:p.G1470A;ENSG00000130856:ENST00000320610:exon25:c.G4415C:p.G1472A;	0.99895974662039	0.81
18	74639883	G	T	18	76927927	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon25:c.G4409T:p.G1470V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.G4409T:p.G1470V;ENSG00000130856:ENST00000543926:exon25:c.G4409T:p.G1470V;ENSG00000130856:ENST00000320610:exon25:c.G4415T:p.G1472V;	0.999777602565516	0.91
18	74639884	G	A	18	76927928	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon25:c.G4410A:p.G1470G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.G4410A:p.G1470G;ENSG00000130856:ENST00000543926:exon25:c.G4410A:p.G1470G;ENSG00000130856:ENST00000320610:exon25:c.G4416A:p.G1472G;	4.92243637825456E-5	0.048
18	74639884	G	C	18	76927928	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon25:c.G4410C:p.G1470G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.G4410C:p.G1470G;ENSG00000130856:ENST00000543926:exon25:c.G4410C:p.G1470G;ENSG00000130856:ENST00000320610:exon25:c.G4416C:p.G1472G;	1.77800618367731E-4	0.028
18	74639884	G	T	18	76927928	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon25:c.G4410T:p.G1470G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.G4410T:p.G1470G;ENSG00000130856:ENST00000543926:exon25:c.G4410T:p.G1470G;ENSG00000130856:ENST00000320610:exon25:c.G4416T:p.G1472G;	5.83216438020283E-5	0.05
18	74640060	C	A	18	76928104	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon25:c.C4586A:p.S1529Y;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.C4586A:p.S1529Y;ENSG00000130856:ENST00000543926:exon25:c.C4586A:p.S1529Y;ENSG00000130856:ENST00000320610:exon25:c.C4592A:p.S1531Y;	0.9337919457598	0.806
18	74640060	C	G	18	76928104	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon25:c.C4586G:p.S1529C;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.C4586G:p.S1529C;ENSG00000130856:ENST00000543926:exon25:c.C4586G:p.S1529C;ENSG00000130856:ENST00000320610:exon25:c.C4592G:p.S1531C;	0.807570187661751	0.646
18	74640060	C	T	18	76928104	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon25:c.C4586T:p.S1529F;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.C4586T:p.S1529F;ENSG00000130856:ENST00000543926:exon25:c.C4586T:p.S1529F;ENSG00000130856:ENST00000320610:exon25:c.C4592T:p.S1531F;	0.99587999231111	0.74
18	74640061	C	A	18	76928105	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon25:c.C4587A:p.S1529S;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.C4587A:p.S1529S;ENSG00000130856:ENST00000543926:exon25:c.C4587A:p.S1529S;ENSG00000130856:ENST00000320610:exon25:c.C4593A:p.S1531S;	8.81081558256725E-5	0.112
18	74640061	C	G	18	76928105	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon25:c.C4587G:p.S1529S;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.C4587G:p.S1529S;ENSG00000130856:ENST00000543926:exon25:c.C4587G:p.S1529S;ENSG00000130856:ENST00000320610:exon25:c.C4593G:p.S1531S;	4.55905154025085E-5	0.048
18	74640061	C	T	18	76928105	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon25:c.C4587T:p.S1529S;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.C4587T:p.S1529S;ENSG00000130856:ENST00000543926:exon25:c.C4587T:p.S1529S;ENSG00000130856:ENST00000320610:exon25:c.C4593T:p.S1531S;	7.64196846222914E-4	0.108
18	74640062	G	A	18	76928106	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon25:c.G4588A:p.E1530K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.G4588A:p.E1530K;ENSG00000130856:ENST00000543926:exon25:c.G4588A:p.G1530S;ENSG00000130856:ENST00000320610:exon25:c.G4594A:p.E1532K;	0.999989732570991	0.992
18	74640062	G	C	18	76928106	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon25:c.G4588C:p.E1530Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon25:c.G4588C:p.E1530Q;ENSG00000130856:ENST00000543926:exon25:c.G4588C:p.G1530R;ENSG00000130856:ENST00000320610:exon25:c.G4594C:p.E1532Q;	0.999997608014363	0.994
18	74640062	G	T	18	76928106	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon25:c.G4588T:p.E1530X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon25:c.G4588T:p.E1530X;ENSG00000130856:ENST00000320610:exon25:c.G4594T:p.E1532X;	0.999993720315048	0.992
18	74640063	G	A	18	76928107	y	y	splicing	ZNF236(NM_007345:exon25:c.4588+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4594+1G>A;ENST00000253159:exon25:c.4588+1G>A;ENST00000543926:exon25:c.4588+1G>A)	.	.	0.999986675681007	0.934
18	74640063	G	C	18	76928107	y	y	splicing	ZNF236(NM_007345:exon25:c.4588+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4594+1G>C;ENST00000253159:exon25:c.4588+1G>C;ENST00000543926:exon25:c.4588+1G>C)	.	.	0.999986675681007	0.934
18	74640063	G	T	18	76928107	y	y	splicing	ZNF236(NM_007345:exon25:c.4588+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4594+1G>T;ENST00000253159:exon25:c.4588+1G>T;ENST00000543926:exon25:c.4588+1G>T)	.	.	0.999986675681007	0.934
18	74640064	T	A	18	76928108	y	y	splicing	ZNF236(NM_007345:exon25:c.4588+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4594+2T>A;ENST00000253159:exon25:c.4588+2T>A;ENST00000543926:exon25:c.4588+2T>A)	.	.	0.999989917668626	0.926
18	74640064	T	C	18	76928108	y	y	splicing	ZNF236(NM_007345:exon25:c.4588+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4594+2T>C;ENST00000253159:exon25:c.4588+2T>C;ENST00000543926:exon25:c.4588+2T>C)	.	.	0.999941273443095	0.9
18	74640064	T	G	18	76928108	y	y	splicing	ZNF236(NM_007345:exon25:c.4588+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon25:c.4594+2T>G;ENST00000253159:exon25:c.4588+2T>G;ENST00000543926:exon25:c.4588+2T>G)	.	.	0.999989917668626	0.912
18	74640065	T	A	18	76928109	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.08713558128723E-4	0.166
18	74640065	T	C	18	76928109	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.78689340042169E-4	0.05
18	74640065	T	G	18	76928109	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.04977368187869E-4	0.19
18	74640066	A	C	18	76928110	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.859937149858446	0.614
18	74640066	A	G	18	76928110	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.7392315459398	0.578
18	74640066	A	T	18	76928110	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.809050891731692	0.594
18	74640067	G	A	18	76928111	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999975428396565	0.986
18	74640067	G	C	18	76928111	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999964820065823	0.946
18	74640067	G	T	18	76928111	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999949562151561	0.97
18	74640068	T	A	18	76928112	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.992728949402554	0.71
18	74640068	T	C	18	76928112	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.989016925246235	0.712
18	74640068	T	G	18	76928112	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.993571767976879	0.714
18	74640069	A	C	18	76928113	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.33102295388726E-4	0.002
18	74640069	A	G	18	76928113	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.49916649288886E-4	0.002
18	74640069	A	T	18	76928113	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.81753143415542E-4	0.05
18	74640070	A	C	18	76928114	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.90672527604495E-4	0.004
18	74640070	A	G	18	76928114	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.36337233063278E-4	0.028
18	74640070	A	T	18	76928114	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.20416069722807E-4	0.004
18	74647924	C	A	18	76935968	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.18892942406909E-5	0.024
18	74647924	C	G	18	76935968	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.05573278400724E-5	0.02
18	74647924	C	T	18	76935968	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.18892942406909E-5	0.018
18	74647925	T	A	18	76935969	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00166922796589821	0.014
18	74647925	T	C	18	76935969	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00140830567855165	0.01
18	74647925	T	G	18	76935969	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00140830567855165	0.01
18	74647926	G	A	18	76935970	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.91836965572762E-4	0.006
18	74647926	G	C	18	76935970	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.6289699032139E-4	0.0
18	74647926	G	T	18	76935970	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.91836965572762E-4	0.006
18	74647927	C	A	18	76935971	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.32694389759872E-4	0.014
18	74647927	C	G	18	76935971	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.80631153661865E-4	0.016
18	74647927	C	T	18	76935971	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.78733273105464E-4	0.014
18	74647928	T	A	18	76935972	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00131227968434435	0.012
18	74647928	T	C	18	76935972	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00126717964757063	0.012
18	74647928	T	G	18	76935972	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00126717964757063	0.012
18	74647929	T	A	18	76935973	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.11159464097565E-5	0.008
18	74647929	T	C	18	76935973	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.87995666562217E-5	0.008
18	74647929	T	G	18	76935973	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.87995666562217E-5	0.008
18	74647930	T	A	18	76935974	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.3797186435366E-5	0.0
18	74647930	T	C	18	76935974	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.49521429640616E-5	0.0
18	74647930	T	G	18	76935974	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.49521429640616E-5	0.0
18	74647931	T	A	18	76935975	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.4916954340738E-4	0.01
18	74647931	T	C	18	76935975	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.06021162418853E-4	0.008
18	74647931	T	G	18	76935975	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.06021162418853E-4	0.008
18	74647932	G	A	18	76935976	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00141607633915174	0.022
18	74647932	G	C	18	76935976	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.22860045406435E-4	0.02
18	74647932	G	T	18	76935976	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.22860045406435E-4	0.02
18	74647933	A	C	18	76935977	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00161685595845287	0.018
18	74647933	A	G	18	76935977	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00161685595845287	0.02
18	74647933	A	T	18	76935977	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00217586145985526	0.014
18	74647934	A	C	18	76935978	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4589-2A>C)	.	.	3.49918104310355E-4	0.006
18	74647934	A	G	18	76935978	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4589-2A>G)	.	.	3.49918104310355E-4	0.006
18	74647934	A	T	18	76935978	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4589-2A>T)	.	.	3.49918104310355E-4	0.006
18	74647935	G	A	18	76935979	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4589-1G>A)	.	.	1.8440565094543E-4	0.0
18	74647935	G	C	18	76935979	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4589-1G>C)	.	.	1.34224261768216E-4	0.0
18	74647935	G	T	18	76935979	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4589-1G>T)	.	.	1.8440565094543E-4	0.0
18	74647936	G	A	18	76935980	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.G4589A:p.G1530D;	7.59435642788644E-4	0.022
18	74647936	G	C	18	76935980	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.G4589C:p.G1530A;	9.81666394918856E-4	0.04
18	74647936	G	T	18	76935980	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.G4589T:p.G1530V;	0.00575643231138012	0.06
18	74647937	T	A	18	76935981	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.T4590A:p.G1530G;	6.53805172076537E-5	0.0
18	74647937	T	C	18	76935981	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.T4590C:p.G1530G;	3.15267776820636E-5	0.0
18	74647937	T	G	18	76935981	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.T4590G:p.G1530G;	3.15267776820636E-5	0.0
18	74648015	C	A	18	76936059	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.C4668A:p.D1556E;	8.81098042670248E-5	0.1
18	74648015	C	G	18	76936059	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.C4668G:p.D1556E;	8.81098042670248E-5	0.082
18	74648015	C	T	18	76936059	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.C4668T:p.D1556D;	8.81098042670248E-5	0.058
18	74648016	A	C	18	76936060	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.A4669C:p.K1557Q;	4.76357584838511E-5	0.022
18	74648016	A	G	18	76936060	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.A4669G:p.K1557E;	6.84650287766538E-5	0.022
18	74648016	A	T	18	76936060	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000543926:exon26:c.A4669T:p.K1557X;	0.0111841522573645	0.304
18	74648017	A	C	18	76936061	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.A4670C:p.K1557T;	3.1877777554816E-5	0.0
18	74648017	A	G	18	76936061	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.A4670G:p.K1557R;	8.55472960422104E-5	0.0
18	74648017	A	T	18	76936061	n	y	intronic	ZNF236	.	.	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon26:c.A4670T:p.K1557I;	8.55472960422104E-5	0.0
18	74648018	G	A	18	76936062	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4670+1G>A)	.	.	7.55948984093289E-5	0.014
18	74648018	G	C	18	76936062	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4670+1G>C)	.	.	7.55948984093289E-5	0.018
18	74648018	G	T	18	76936062	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4670+1G>T)	.	.	7.55948984093289E-5	0.018
18	74648019	T	A	18	76936063	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4670+2T>A)	.	.	3.55183766894313E-5	0.008
18	74648019	T	C	18	76936063	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4670+2T>C)	.	.	3.29172098833992E-5	0.004
18	74648019	T	G	18	76936063	n	y	intronic	ZNF236	.	.	splicing	ENSG00000130856(ENST00000543926:exon26:c.4670+2T>G)	.	.	3.29172098833992E-5	0.004
18	74648020	A	C	18	76936064	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.13105871323179E-5	0.004
18	74648020	A	G	18	76936064	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.13105871323179E-5	0.004
18	74648020	A	T	18	76936064	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.13105871323179E-5	0.004
18	74648021	A	C	18	76936065	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.74714960904026E-5	0.036
18	74648021	A	G	18	76936065	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.74714960904026E-5	0.038
18	74648021	A	T	18	76936065	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.74714960904026E-5	0.036
18	74648022	G	A	18	76936066	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.31823409584798E-5	0.078
18	74648022	G	C	18	76936066	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.31823409584798E-5	0.078
18	74648022	G	T	18	76936066	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.31823409584798E-5	0.078
18	74648023	T	A	18	76936067	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.37920769650778E-5	0.0
18	74648023	T	C	18	76936067	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.37920769650778E-5	0.0
18	74648023	T	G	18	76936067	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.37920769650778E-5	0.0
18	74648024	A	C	18	76936068	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.30042175902775E-5	0.02
18	74648024	A	G	18	76936068	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.30042175902775E-5	0.016
18	74648024	A	T	18	76936068	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.0086940530158E-5	0.0
18	74648025	A	C	18	76936069	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.0728096026951E-5	0.006
18	74648025	A	G	18	76936069	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.0728096026951E-5	0.006
18	74648025	A	T	18	76936069	n	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.0728096026951E-5	0.01
18	74649100	C	A	18	76937144	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.51697978579362E-4	0.078
18	74649100	C	G	18	76937144	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.48706293533907E-5	0.066
18	74649100	C	T	18	76937144	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.7103933724776E-5	0.002
18	74649101	C	A	18	76937145	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00377402703995373	0.04
18	74649101	C	G	18	76937145	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.1609795615418E-5	0.034
18	74649101	C	T	18	76937145	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.29458929826949E-4	0.008
18	74649102	T	A	18	76937146	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00327279861928345	0.164
18	74649102	T	C	18	76937146	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.03509072473968E-4	0.004
18	74649102	T	G	18	76937146	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0144432879466187	0.168
18	74649103	C	A	18	76937147	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00202745480267692	0.082
18	74649103	C	G	18	76937147	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.8471006368213E-4	0.062
18	74649103	C	T	18	76937147	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.98279354156514E-5	0.014
18	74649104	T	A	18	76937148	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0194658362374974	0.078
18	74649104	T	C	18	76937148	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.17077416783272E-4	0.0
18	74649104	T	G	18	76937148	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00347142759488623	0.188
18	74649105	T	A	18	76937149	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.8084593776703E-4	0.068
18	74649105	T	C	18	76937149	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.91639353474893E-5	0.0
18	74649105	T	G	18	76937149	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.60800848346534E-4	0.072
18	74649106	T	A	18	76937150	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0345205661677602	0.176
18	74649106	T	C	18	76937150	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.48880390339553E-5	0.016
18	74649106	T	G	18	76937150	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0143400083746145	0.21
18	74649107	T	A	18	76937151	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997643220664628	0.91
18	74649107	T	C	18	76937151	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.22068023246462E-4	0.016
18	74649107	T	G	18	76937151	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0453143380717971	0.274
18	74649108	G	A	18	76937152	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.53386421520996E-4	0.0
18	74649108	G	C	18	76937152	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.97771077685306E-5	0.0
18	74649108	G	T	18	76937152	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.91667314788128E-5	0.0
18	74649109	T	A	18	76937153	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00721321241758524	0.112
18	74649109	T	C	18	76937153	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.02987235260163E-5	0.002
18	74649109	T	G	18	76937153	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.914671850083385	0.658
18	74649110	A	C	18	76937154	y	y	splicing	ZNF236(NM_007345:exon26:c.4589-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon26:c.4595-2A>C;ENST00000253159:exon26:c.4589-2A>C;ENST00000543926:exon27:c.4671-2A>C)	.	.	0.99996509239462	0.93
18	74649110	A	G	18	76937154	y	y	splicing	ZNF236(NM_007345:exon26:c.4589-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon26:c.4595-2A>G;ENST00000253159:exon26:c.4589-2A>G;ENST00000543926:exon27:c.4671-2A>G)	.	.	0.99996509239462	0.93
18	74649110	A	T	18	76937154	y	y	splicing	ZNF236(NM_007345:exon26:c.4589-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon26:c.4595-2A>T;ENST00000253159:exon26:c.4589-2A>T;ENST00000543926:exon27:c.4671-2A>T)	.	.	0.999986472513537	0.928
18	74649111	G	A	18	76937155	y	y	splicing	ZNF236(NM_007345:exon26:c.4589-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon26:c.4595-1G>A;ENST00000253159:exon26:c.4589-1G>A;ENST00000543926:exon27:c.4671-1G>A)	.	.	0.999978952611685	0.922
18	74649111	G	C	18	76937155	y	y	splicing	ZNF236(NM_007345:exon26:c.4589-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon26:c.4595-1G>C;ENST00000253159:exon26:c.4589-1G>C;ENST00000543926:exon27:c.4671-1G>C)	.	.	0.999978952611685	0.918
18	74649111	G	T	18	76937155	y	y	splicing	ZNF236(NM_007345:exon26:c.4589-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon26:c.4595-1G>T;ENST00000253159:exon26:c.4589-1G>T;ENST00000543926:exon27:c.4671-1G>T)	.	.	0.999978952611685	0.924
18	74649112	A	C	18	76937156	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon26:c.A4589C:p.E1530A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon26:c.A4589C:p.E1530A;ENSG00000130856:ENST00000543926:exon27:c.A4671C:p.K1557N;ENSG00000130856:ENST00000320610:exon26:c.A4595C:p.E1532A;	7.12060255790211E-4	0.058
18	74649112	A	G	18	76937156	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon26:c.A4589G:p.E1530G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon26:c.A4589G:p.E1530G;ENSG00000130856:ENST00000320610:exon26:c.A4595G:p.E1532G;	4.40442659903037E-5	0.016
18	74649112	A	T	18	76937156	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon26:c.A4589T:p.E1530V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon26:c.A4589T:p.E1530V;ENSG00000130856:ENST00000543926:exon27:c.A4671T:p.K1557N;ENSG00000130856:ENST00000320610:exon26:c.A4595T:p.E1532V;	0.00172129319755665	0.194
18	74649113	A	C	18	76937157	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon26:c.A4590C:p.E1530D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon26:c.A4590C:p.E1530D;ENSG00000130856:ENST00000543926:exon27:c.A4672C:p.T1558P;ENSG00000130856:ENST00000320610:exon26:c.A4596C:p.E1532D;	1.32712562337376E-4	0.006
18	74649113	A	G	18	76937157	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon26:c.A4590G:p.E1530E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000543926:exon27:c.A4672G:p.T1558A;	1.71494066432434E-4	0.032
18	74649113	A	T	18	76937157	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon26:c.A4590T:p.E1530D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon26:c.A4590T:p.E1530D;ENSG00000130856:ENST00000543926:exon27:c.A4672T:p.T1558S;ENSG00000130856:ENST00000320610:exon26:c.A4596T:p.E1532D;	5.18590731120163E-6	0.048
18	74659465	A	C	18	76947509	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.26282657477284E-5	0.0
18	74659465	A	G	18	76947509	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.935023150400967	0.812
18	74659465	A	T	18	76947509	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.94676664783226E-5	0.002
18	74659466	T	A	18	76947510	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.928250055146763	0.49
18	74659466	T	C	18	76947510	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0114252194410665	0.252
18	74659466	T	G	18	76947510	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999954583973425	0.958
18	74659467	C	A	18	76947511	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.108041775835	0.162
18	74659467	C	G	18	76947511	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00322482616575852	0.064
18	74659467	C	T	18	76947511	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.65367650047762E-4	0.008
18	74659468	T	A	18	76947512	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.931009813431075	0.646
18	74659468	T	C	18	76947512	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00328064352026523	0.1
18	74659468	T	G	18	76947512	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0219193403610497	0.294
18	74659469	T	A	18	76947513	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0755377509836057	0.344
18	74659469	T	C	18	76947513	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.10910544505646E-4	0.04
18	74659469	T	G	18	76947513	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00206921497236496	0.138
18	74659470	T	A	18	76947514	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.223356890447844	0.508
18	74659470	T	C	18	76947514	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.45065283221464E-5	0.012
18	74659470	T	G	18	76947514	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00472150645103205	0.048
18	74659471	T	A	18	76947515	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998329836208112	0.916
18	74659471	T	C	18	76947515	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.75703760967916E-4	0.03
18	74659471	T	G	18	76947515	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.15350566179281	0.438
18	74659472	G	A	18	76947516	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.89729721908071E-5	0.0
18	74659472	G	C	18	76947516	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.87998016647132E-5	0.008
18	74659472	G	T	18	76947516	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.87998016647132E-5	0.018
18	74659473	C	A	18	76947517	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.88142588639546E-5	0.004
18	74659473	C	G	18	76947517	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.28163069541319E-5	0.048
18	74659473	C	T	18	76947517	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.87217297172074E-5	0.0
18	74659474	C	A	18	76947518	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999758300436325	0.794
18	74659474	C	G	18	76947518	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999926721548222	0.908
18	74659474	C	T	18	76947518	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00100680043368769	0.03
18	74659475	A	C	18	76947519	y	y	splicing	ZNF236(NM_007345:exon27:c.4777-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4783-2A>C;ENST00000253159:exon27:c.4777-2A>C;ENST00000543926:exon28:c.4859-2A>C)	.	.	0.99994568797423	0.964
18	74659475	A	G	18	76947519	y	y	splicing	ZNF236(NM_007345:exon27:c.4777-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4783-2A>G;ENST00000253159:exon27:c.4777-2A>G;ENST00000543926:exon28:c.4859-2A>G)	.	.	0.99994568797423	0.964
18	74659475	A	T	18	76947519	y	y	splicing	ZNF236(NM_007345:exon27:c.4777-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4783-2A>T;ENST00000253159:exon27:c.4777-2A>T;ENST00000543926:exon28:c.4859-2A>T)	.	.	0.99994568797423	0.96
18	74659476	G	A	18	76947520	y	y	splicing	ZNF236(NM_007345:exon27:c.4777-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4783-1G>A;ENST00000253159:exon27:c.4777-1G>A;ENST00000543926:exon28:c.4859-1G>A)	.	.	0.999982737877662	0.942
18	74659476	G	C	18	76947520	y	y	splicing	ZNF236(NM_007345:exon27:c.4777-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4783-1G>C;ENST00000253159:exon27:c.4777-1G>C;ENST00000543926:exon28:c.4859-1G>C)	.	.	0.99995545544995	0.94
18	74659476	G	T	18	76947520	y	y	splicing	ZNF236(NM_007345:exon27:c.4777-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4783-1G>T;ENST00000253159:exon27:c.4777-1G>T;ENST00000543926:exon28:c.4859-1G>T)	.	.	0.99995545544995	0.942
18	74659477	G	A	18	76947521	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.G4777A:p.G1593S;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4777A:p.G1593S;ENSG00000130856:ENST00000320610:exon27:c.G4783A:p.G1595S;	0.980028738238965	0.652
18	74659477	G	C	18	76947521	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.G4777C:p.G1593R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4777C:p.G1593R;ENSG00000130856:ENST00000320610:exon27:c.G4783C:p.G1595R;	0.997553161333111	0.708
18	74659477	G	T	18	76947521	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.G4777T:p.G1593C;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4777T:p.G1593C;ENSG00000130856:ENST00000320610:exon27:c.G4783T:p.G1595C;	0.921961509458142	0.504
18	74659478	G	A	18	76947522	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.G4778A:p.G1593D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4778A:p.G1593D;ENSG00000130856:ENST00000320610:exon27:c.G4784A:p.G1595D;	0.00343348579180741	0.118
18	74659478	G	C	18	76947522	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.G4778C:p.G1593A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4778C:p.G1593A;ENSG00000130856:ENST00000320610:exon27:c.G4784C:p.G1595A;	0.00106832094977002	0.108
18	74659478	G	T	18	76947522	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.G4778T:p.G1593V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4778T:p.G1593V;ENSG00000130856:ENST00000320610:exon27:c.G4784T:p.G1595V;	0.00212400487513841	0.096
18	74659606	C	A	18	76947650	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.C4906A:p.Q1636K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.C4906A:p.Q1636K;ENSG00000130856:ENST00000320610:exon27:c.C4912A:p.Q1638K;	0.084356707826338	0.292
18	74659606	C	G	18	76947650	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.C4906G:p.Q1636E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.C4906G:p.Q1636E;ENSG00000130856:ENST00000320610:exon27:c.C4912G:p.Q1638E;	0.260406848098954	0.418
18	74659606	C	T	18	76947650	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon27:c.C4906T:p.Q1636X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon27:c.C4906T:p.Q1636X;ENSG00000130856:ENST00000320610:exon27:c.C4912T:p.Q1638X;	0.999815445703958	0.97
18	74659607	A	C	18	76947651	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.A4907C:p.Q1636P;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.A4907C:p.Q1636P;ENSG00000130856:ENST00000320610:exon27:c.A4913C:p.Q1638P;	0.998454080320487	0.88
18	74659607	A	G	18	76947651	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.A4907G:p.Q1636R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.A4907G:p.Q1636R;ENSG00000130856:ENST00000320610:exon27:c.A4913G:p.Q1638R;	0.998471394519436	0.976
18	74659607	A	T	18	76947651	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.A4907T:p.Q1636L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.A4907T:p.Q1636L;ENSG00000130856:ENST00000320610:exon27:c.A4913T:p.Q1638L;	0.998565221548407	0.95
18	74659608	G	A	18	76947652	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon27:c.G4908A:p.Q1636Q;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4908A:p.Q1636Q;ENSG00000130856:ENST00000320610:exon27:c.G4914A:p.Q1638Q;	0.999983360858877	1.0
18	74659608	G	C	18	76947652	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.G4908C:p.Q1636H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4908C:p.Q1636H;ENSG00000130856:ENST00000320610:exon27:c.G4914C:p.Q1638H;	0.999994287779611	0.994
18	74659608	G	T	18	76947652	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon27:c.G4908T:p.Q1636H;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon27:c.G4908T:p.Q1636H;ENSG00000130856:ENST00000320610:exon27:c.G4914T:p.Q1638H;	0.999984775051235	0.992
18	74659609	G	A	18	76947653	y	y	splicing	ZNF236(NM_007345:exon27:c.4908+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4914+1G>A;ENST00000253159:exon27:c.4908+1G>A;ENST00000543926:exon28:c.4990+1G>A)	.	.	0.999985532734767	0.934
18	74659609	G	C	18	76947653	y	y	splicing	ZNF236(NM_007345:exon27:c.4908+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4914+1G>C;ENST00000253159:exon27:c.4908+1G>C;ENST00000543926:exon28:c.4990+1G>C)	.	.	0.999985532734767	0.934
18	74659609	G	T	18	76947653	y	y	splicing	ZNF236(NM_007345:exon27:c.4908+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4914+1G>T;ENST00000253159:exon27:c.4908+1G>T;ENST00000543926:exon28:c.4990+1G>T)	.	.	0.999985532734767	0.934
18	74659610	T	A	18	76947654	y	y	splicing	ZNF236(NM_007345:exon27:c.4908+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4914+2T>A;ENST00000253159:exon27:c.4908+2T>A;ENST00000543926:exon28:c.4990+2T>A)	.	.	0.999988247793601	0.926
18	74659610	T	C	18	76947654	y	y	splicing	ZNF236(NM_007345:exon27:c.4908+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4914+2T>C;ENST00000253159:exon27:c.4908+2T>C;ENST00000543926:exon28:c.4990+2T>C)	.	.	0.992577803696025	0.644
18	74659610	T	G	18	76947654	y	y	splicing	ZNF236(NM_007345:exon27:c.4908+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon27:c.4914+2T>G;ENST00000253159:exon27:c.4908+2T>G;ENST00000543926:exon28:c.4990+2T>G)	.	.	0.999988247793601	0.926
18	74659611	A	C	18	76947655	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99990786717926	0.802
18	74659611	A	G	18	76947655	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.924044285188828	0.602
18	74659611	A	T	18	76947655	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999691915854492	0.784
18	74659612	C	A	18	76947656	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.25990291163196E-5	0.02
18	74659612	C	G	18	76947656	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.47313353347759E-4	0.068
18	74659612	C	T	18	76947656	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.33727451132258E-4	0.004
18	74659613	A	C	18	76947657	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.97394574995789E-4	0.008
18	74659613	A	G	18	76947657	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.70779430981568E-5	0.004
18	74659613	A	T	18	76947657	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.23943401225381E-5	0.018
18	74659614	G	A	18	76947658	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.5519896423512E-4	0.052
18	74659614	G	C	18	76947658	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.29183459293989E-4	0.022
18	74659614	G	T	18	76947658	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.43828864954372E-5	0.032
18	74659615	G	A	18	76947659	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.21067915152549E-5	0.02
18	74659615	G	C	18	76947659	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.21318734895995E-5	0.004
18	74659615	G	T	18	76947659	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.87394847400842E-5	0.002
18	74659616	A	C	18	76947660	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.6815803950322E-6	0.0
18	74659616	A	G	18	76947660	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.5130317145273E-6	0.002
18	74659616	A	T	18	76947660	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.6815803950322E-6	0.0
18	74667929	G	A	18	76955973	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997663228256989	0.978
18	74667929	G	C	18	76955973	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.87957143645105E-5	0.0
18	74667929	G	T	18	76955973	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.91266145916482E-5	0.0
18	74667930	G	A	18	76955974	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.60258385394264E-5	0.004
18	74667930	G	C	18	76955974	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.65913338551754E-5	0.004
18	74667930	G	T	18	76955974	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.72805293368669E-5	0.004
18	74667931	C	A	18	76955975	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00102490276012955	0.072
18	74667931	C	G	18	76955975	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.36553992272313E-4	0.008
18	74667931	C	T	18	76955975	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.09626207783189E-5	0.0
18	74667932	T	A	18	76955976	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0210948911791616	0.306
18	74667932	T	C	18	76955976	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.43113946526144E-4	0.016
18	74667932	T	G	18	76955976	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00971861651567646	0.24
18	74667933	C	A	18	76955977	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.60913459215781E-4	0.1
18	74667933	C	G	18	76955977	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.01061138244078E-4	0.05
18	74667933	C	T	18	76955977	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.87953176094321E-5	0.002
18	74667934	T	A	18	76955978	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.11385695546338E-5	0.076
18	74667934	T	C	18	76955978	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.85432120026415E-6	0.0
18	74667934	T	G	18	76955978	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.15337768210749E-5	0.054
18	74667935	T	A	18	76955979	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00865461112912598	0.054
18	74667935	T	C	18	76955979	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.46369917825824E-5	0.0
18	74667935	T	G	18	76955979	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0173251143084147	0.11
18	74667936	T	A	18	76955980	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0490381011209021	0.358
18	74667936	T	C	18	76955980	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.56087266848333E-4	0.01
18	74667936	T	G	18	76955980	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0431831981632087	0.342
18	74667937	C	A	18	76955981	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.39683978843159E-5	0.006
18	74667937	C	G	18	76955981	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.53837717637936E-5	0.006
18	74667937	C	T	18	76955981	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.68922002181297E-5	0.008
18	74667938	C	A	18	76955982	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.384225606265615	0.53
18	74667938	C	G	18	76955982	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999522130912793	0.918
18	74667938	C	T	18	76955982	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.70679482851514E-4	0.034
18	74667939	A	C	18	76955983	y	y	splicing	ZNF236(NM_007345:exon28:c.4909-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.4915-2A>C;ENST00000253159:exon28:c.4909-2A>C;ENST00000543926:exon29:c.4991-2A>C)	.	.	0.999893588078984	0.852
18	74667939	A	G	18	76955983	y	y	splicing	ZNF236(NM_007345:exon28:c.4909-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.4915-2A>G;ENST00000253159:exon28:c.4909-2A>G;ENST00000543926:exon29:c.4991-2A>G)	.	.	0.999893588078984	0.852
18	74667939	A	T	18	76955983	y	y	splicing	ZNF236(NM_007345:exon28:c.4909-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.4915-2A>T;ENST00000253159:exon28:c.4909-2A>T;ENST00000543926:exon29:c.4991-2A>T)	.	.	0.999893588078984	0.87
18	74667940	G	A	18	76955984	y	y	splicing	ZNF236(NM_007345:exon28:c.4909-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.4915-1G>A;ENST00000253159:exon28:c.4909-1G>A;ENST00000543926:exon29:c.4991-1G>A)	.	.	0.999974447166625	0.788
18	74667940	G	C	18	76955984	y	y	splicing	ZNF236(NM_007345:exon28:c.4909-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.4915-1G>C;ENST00000253159:exon28:c.4909-1G>C;ENST00000543926:exon29:c.4991-1G>C)	.	.	0.999974447166625	0.762
18	74667940	G	T	18	76955984	y	y	splicing	ZNF236(NM_007345:exon28:c.4909-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.4915-1G>T;ENST00000253159:exon28:c.4909-1G>T;ENST00000543926:exon29:c.4991-1G>T)	.	.	0.999974447166625	0.754
18	74667941	G	A	18	76955985	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.G4909A:p.V1637I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.G4909A:p.V1637I;ENSG00000130856:ENST00000320610:exon28:c.G4915A:p.V1639I;	0.163700616485592	0.512
18	74667941	G	C	18	76955985	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.G4909C:p.V1637L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.G4909C:p.V1637L;ENSG00000130856:ENST00000320610:exon28:c.G4915C:p.V1639L;	0.421236625656031	0.504
18	74667941	G	T	18	76955985	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.G4909T:p.V1637L;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.G4909T:p.V1637L;ENSG00000130856:ENST00000320610:exon28:c.G4915T:p.V1639L;	0.577954166329075	0.492
18	74667942	T	A	18	76955986	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.T4910A:p.V1637E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.T4910A:p.V1637E;ENSG00000130856:ENST00000320610:exon28:c.T4916A:p.V1639E;	2.48011011705655E-4	0.002
18	74667942	T	C	18	76955986	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.T4910C:p.V1637A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.T4910C:p.V1637A;ENSG00000130856:ENST00000320610:exon28:c.T4916C:p.V1639A;	1.79319795154261E-4	0.008
18	74667942	T	G	18	76955986	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.T4910G:p.V1637G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.T4910G:p.V1637G;ENSG00000130856:ENST00000320610:exon28:c.T4916G:p.V1639G;	1.93722998036344E-4	0.004
18	74668136	A	C	18	76956180	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.A5104C:p.K1702Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.A5104C:p.K1702Q;ENSG00000130856:ENST00000320610:exon28:c.A5110C:p.K1704Q;	0.0606500100251218	0.372
18	74668136	A	G	18	76956180	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.A5104G:p.K1702E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.A5104G:p.K1702E;ENSG00000130856:ENST00000320610:exon28:c.A5110G:p.K1704E;	0.138898109537588	0.41
18	74668136	A	T	18	76956180	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon28:c.A5104T:p.K1702X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon28:c.A5104T:p.K1702X;ENSG00000130856:ENST00000320610:exon28:c.A5110T:p.K1704X;	0.940350607148689	0.734
18	74668137	A	C	18	76956181	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.A5105C:p.K1702T;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.A5105C:p.K1702T;ENSG00000130856:ENST00000320610:exon28:c.A5111C:p.K1704T;	0.987880049868377	0.906
18	74668137	A	G	18	76956181	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.A5105G:p.K1702R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.A5105G:p.K1702R;ENSG00000130856:ENST00000320610:exon28:c.A5111G:p.K1704R;	0.997976819432295	0.95
18	74668137	A	T	18	76956181	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.A5105T:p.K1702M;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.A5105T:p.K1702M;ENSG00000130856:ENST00000320610:exon28:c.A5111T:p.K1704M;	0.995646797872712	0.986
18	74668138	G	A	18	76956182	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon28:c.G5106A:p.K1702K;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.G5106A:p.K1702K;ENSG00000130856:ENST00000320610:exon28:c.G5112A:p.K1704K;	0.999781762126617	0.988
18	74668138	G	C	18	76956182	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.G5106C:p.K1702N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.G5106C:p.K1702N;ENSG00000130856:ENST00000320610:exon28:c.G5112C:p.K1704N;	0.999987147244756	0.96
18	74668138	G	T	18	76956182	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon28:c.G5106T:p.K1702N;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon28:c.G5106T:p.K1702N;ENSG00000130856:ENST00000320610:exon28:c.G5112T:p.K1704N;	0.999960851413268	0.998
18	74668139	G	A	18	76956183	y	y	splicing	ZNF236(NM_007345:exon28:c.5106+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.5112+1G>A;ENST00000253159:exon28:c.5106+1G>A;ENST00000543926:exon29:c.5188+1G>A)	.	.	0.999981760802075	0.944
18	74668139	G	C	18	76956183	y	y	splicing	ZNF236(NM_007345:exon28:c.5106+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.5112+1G>C;ENST00000253159:exon28:c.5106+1G>C;ENST00000543926:exon29:c.5188+1G>C)	.	.	0.999981760802075	0.944
18	74668139	G	T	18	76956183	y	y	splicing	ZNF236(NM_007345:exon28:c.5106+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.5112+1G>T;ENST00000253159:exon28:c.5106+1G>T;ENST00000543926:exon29:c.5188+1G>T)	.	.	0.999981760802075	0.944
18	74668140	T	A	18	76956184	y	y	splicing	ZNF236(NM_007345:exon28:c.5106+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.5112+2T>A;ENST00000253159:exon28:c.5106+2T>A;ENST00000543926:exon29:c.5188+2T>A)	.	.	0.999989917668626	0.928
18	74668140	T	C	18	76956184	y	y	splicing	ZNF236(NM_007345:exon28:c.5106+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.5112+2T>C;ENST00000253159:exon28:c.5106+2T>C;ENST00000543926:exon29:c.5188+2T>C)	.	.	0.993179459523591	0.646
18	74668140	T	G	18	76956184	y	y	splicing	ZNF236(NM_007345:exon28:c.5106+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon28:c.5112+2T>G;ENST00000253159:exon28:c.5106+2T>G;ENST00000543926:exon29:c.5188+2T>G)	.	.	0.999989917668626	0.928
18	74668141	A	C	18	76956185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.84570161056963	0.674
18	74668141	A	G	18	76956185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0240161172112271	0.38
18	74668141	A	T	18	76956185	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.981502147513763	0.74
18	74668142	G	A	18	76956186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.56270946583491E-5	0.05
18	74668142	G	C	18	76956186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.19631108770315E-4	0.004
18	74668142	G	T	18	76956186	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.51429025024727E-4	0.01
18	74668143	G	A	18	76956187	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.552267609188901	0.494
18	74668143	G	C	18	76956187	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.806959820268278	0.47
18	74668143	G	T	18	76956187	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.996790887732208	0.606
18	74668144	C	A	18	76956188	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.52013515361895E-4	0.01
18	74668144	C	G	18	76956188	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.67907316219729E-4	0.034
18	74668144	C	T	18	76956188	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.95714078353152E-5	0.03
18	74668145	C	A	18	76956189	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.66319213704038E-5	0.002
18	74668145	C	G	18	76956189	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.07016094304005E-4	0.002
18	74668145	C	T	18	76956189	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.26821493750831E-4	0.002
18	74668146	C	A	18	76956190	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.28565290852079E-5	0.0
18	74668146	C	G	18	76956190	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.68347066247314E-5	0.0
18	74668146	C	T	18	76956190	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.28565290852079E-5	0.004
18	74671631	G	A	18	76959675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.82463990696774E-5	0.012
18	74671631	G	C	18	76959675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.04737572979891E-5	0.0
18	74671631	G	T	18	76959675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.08332002171532E-5	0.004
18	74671632	T	A	18	76959676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.042599385166658	0.23
18	74671632	T	C	18	76959676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00158572860928649	0.042
18	74671632	T	G	18	76959676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0211446371398046	0.222
18	74671633	T	A	18	76959677	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.996425757996465	0.898
18	74671633	T	C	18	76959677	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.04008784145353E-5	0.0
18	74671633	T	G	18	76959677	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00168201669571225	0.156
18	74671634	G	A	18	76959678	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.40864536080877E-4	0.014
18	74671634	G	C	18	76959678	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.0680164469817E-5	0.0
18	74671634	G	T	18	76959678	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.26329965109052E-5	0.0
18	74671635	T	A	18	76959679	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0201619733157335	0.166
18	74671635	T	C	18	76959679	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.12780829022705E-5	0.004
18	74671635	T	G	18	76959679	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0125667323508367	0.134
18	74671636	C	A	18	76959680	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0031467686472953	0.106
18	74671636	C	G	18	76959680	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00113575900689813	0.054
18	74671636	C	T	18	76959680	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.10834641511967E-4	0.002
18	74671637	T	A	18	76959681	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0128224251688149	0.092
18	74671637	T	C	18	76959681	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.29106769139693E-5	0.0
18	74671637	T	G	18	76959681	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0436569728792854	0.154
18	74671638	C	A	18	76959682	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.49561488858642E-4	0.048
18	74671638	C	G	18	76959682	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.21419477111254E-4	0.042
18	74671638	C	T	18	76959682	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.47772077419509E-5	0.0
18	74671639	C	A	18	76959683	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.76674610139128E-5	0.004
18	74671639	C	G	18	76959683	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.47841720830246E-5	0.0
18	74671639	C	T	18	76959683	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.04919651922607E-4	0.004
18	74671640	C	A	18	76959684	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.975945386506321	0.772
18	74671640	C	G	18	76959684	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.989195237353052	0.876
18	74671640	C	T	18	76959684	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0145194492242074	0.052
18	74671641	A	C	18	76959685	y	y	splicing	ZNF236(NM_007345:exon29:c.5107-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5113-2A>C;ENST00000253159:exon29:c.5107-2A>C;ENST00000543926:exon30:c.5189-2A>C)	.	.	0.999988247793601	0.92
18	74671641	A	G	18	76959685	y	y	splicing	ZNF236(NM_007345:exon29:c.5107-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5113-2A>G;ENST00000253159:exon29:c.5107-2A>G;ENST00000543926:exon30:c.5189-2A>G)	.	.	0.999988247793601	0.92
18	74671641	A	T	18	76959685	y	y	splicing	ZNF236(NM_007345:exon29:c.5107-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5113-2A>T;ENST00000253159:exon29:c.5107-2A>T;ENST00000543926:exon30:c.5189-2A>T)	.	.	0.999988247793601	0.92
18	74671642	G	A	18	76959686	y	y	splicing	ZNF236(NM_007345:exon29:c.5107-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5113-1G>A;ENST00000253159:exon29:c.5107-1G>A;ENST00000543926:exon30:c.5189-1G>A)	.	.	0.999986675681007	0.924
18	74671642	G	C	18	76959686	y	y	splicing	ZNF236(NM_007345:exon29:c.5107-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5113-1G>C;ENST00000253159:exon29:c.5107-1G>C;ENST00000543926:exon30:c.5189-1G>C)	.	.	0.999986675681007	0.924
18	74671642	G	T	18	76959686	y	y	splicing	ZNF236(NM_007345:exon29:c.5107-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5113-1G>T;ENST00000253159:exon29:c.5107-1G>T;ENST00000543926:exon30:c.5189-1G>T)	.	.	0.999986675681007	0.924
18	74671643	G	A	18	76959687	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.G5107A:p.E1703K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.G5107A:p.E1703K;ENSG00000130856:ENST00000320610:exon29:c.G5113A:p.E1705K;	0.99888428610499	0.964
18	74671643	G	C	18	76959687	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.G5107C:p.E1703Q;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.G5107C:p.E1703Q;ENSG00000130856:ENST00000320610:exon29:c.G5113C:p.E1705Q;	0.999587883833171	0.966
18	74671643	G	T	18	76959687	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon29:c.G5107T:p.E1703X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon29:c.G5107T:p.E1703X;ENSG00000130856:ENST00000320610:exon29:c.G5113T:p.E1705X;	0.999832636789452	0.99
18	74671644	A	C	18	76959688	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.A5108C:p.E1703A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.A5108C:p.E1703A;ENSG00000130856:ENST00000320610:exon29:c.A5114C:p.E1705A;	0.318167598420935	0.528
18	74671644	A	G	18	76959688	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.A5108G:p.E1703G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.A5108G:p.E1703G;ENSG00000130856:ENST00000320610:exon29:c.A5114G:p.E1705G;	0.474405075453667	0.534
18	74671644	A	T	18	76959688	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.A5108T:p.E1703V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.A5108T:p.E1703V;ENSG00000130856:ENST00000320610:exon29:c.A5114T:p.E1705V;	0.127271261276212	0.436
18	74671770	C	A	18	76959814	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.C5234A:p.T1745K;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.C5234A:p.T1745K;ENSG00000130856:ENST00000320610:exon29:c.C5240A:p.T1747K;	0.181648839326808	0.284
18	74671770	C	G	18	76959814	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.C5234G:p.T1745R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.C5234G:p.T1745R;ENSG00000130856:ENST00000320610:exon29:c.C5240G:p.T1747R;	0.0218312727084891	0.118
18	74671770	C	T	18	76959814	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.C5234T:p.T1745I;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.C5234T:p.T1745I;ENSG00000130856:ENST00000320610:exon29:c.C5240T:p.T1747I;	0.981379186398012	0.896
18	74671771	A	C	18	76959815	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon29:c.A5235C:p.T1745T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.A5235C:p.T1745T;ENSG00000130856:ENST00000320610:exon29:c.A5241C:p.T1747T;	0.824635130382065	0.66
18	74671771	A	G	18	76959815	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon29:c.A5235G:p.T1745T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.A5235G:p.T1745T;ENSG00000130856:ENST00000320610:exon29:c.A5241G:p.T1747T;	0.901430828541876	0.61
18	74671771	A	T	18	76959815	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon29:c.A5235T:p.T1745T;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.A5235T:p.T1745T;ENSG00000130856:ENST00000320610:exon29:c.A5241T:p.T1747T;	0.993263639964847	0.786
18	74671772	G	A	18	76959816	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.G5236A:p.G1746R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.G5236A:p.G1746R;ENSG00000130856:ENST00000320610:exon29:c.G5242A:p.G1748R;	0.999957853247325	1.0
18	74671772	G	C	18	76959816	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.G5236C:p.G1746R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.G5236C:p.G1746R;ENSG00000130856:ENST00000320610:exon29:c.G5242C:p.G1748R;	0.999957168200715	0.996
18	74671772	G	T	18	76959816	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon29:c.G5236T:p.G1746W;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon29:c.G5236T:p.G1746W;ENSG00000130856:ENST00000320610:exon29:c.G5242T:p.G1748W;	0.998683005614406	0.968
18	74671773	G	A	18	76959817	y	y	splicing	ZNF236(NM_007345:exon29:c.5236+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5242+1G>A;ENST00000253159:exon29:c.5236+1G>A;ENST00000543926:exon30:c.5318+1G>A)	.	.	0.999986675681007	0.934
18	74671773	G	C	18	76959817	y	y	splicing	ZNF236(NM_007345:exon29:c.5236+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5242+1G>C;ENST00000253159:exon29:c.5236+1G>C;ENST00000543926:exon30:c.5318+1G>C)	.	.	0.999986675681007	0.934
18	74671773	G	T	18	76959817	y	y	splicing	ZNF236(NM_007345:exon29:c.5236+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5242+1G>T;ENST00000253159:exon29:c.5236+1G>T;ENST00000543926:exon30:c.5318+1G>T)	.	.	0.999986675681007	0.934
18	74671774	T	A	18	76959818	y	y	splicing	ZNF236(NM_007345:exon29:c.5236+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5242+2T>A;ENST00000253159:exon29:c.5236+2T>A;ENST00000543926:exon30:c.5318+2T>A)	.	.	0.999990155693597	0.92
18	74671774	T	C	18	76959818	y	y	splicing	ZNF236(NM_007345:exon29:c.5236+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5242+2T>C;ENST00000253159:exon29:c.5236+2T>C;ENST00000543926:exon30:c.5318+2T>C)	.	.	0.978494574298029	0.594
18	74671774	T	G	18	76959818	y	y	splicing	ZNF236(NM_007345:exon29:c.5236+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon29:c.5242+2T>G;ENST00000253159:exon29:c.5236+2T>G;ENST00000543926:exon30:c.5318+2T>G)	.	.	0.999990155693597	0.924
18	74671775	A	C	18	76959819	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999392272982804	0.746
18	74671775	A	G	18	76959819	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.302574165962216	0.49
18	74671775	A	T	18	76959819	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999594748015831	0.738
18	74671776	A	C	18	76959820	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0273010779533852	0.318
18	74671776	A	G	18	76959820	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.346586024247746	0.478
18	74671776	A	T	18	76959820	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0791497084915086	0.414
18	74671777	C	A	18	76959821	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.7402615466441E-5	0.026
18	74671777	C	G	18	76959821	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.81287414070763E-5	0.008
18	74671777	C	T	18	76959821	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.49315620009889E-5	0.054
18	74671778	G	A	18	76959822	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.14463578599797E-4	0.012
18	74671778	G	C	18	76959822	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.28426907078927E-4	0.038
18	74671778	G	T	18	76959822	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.1704221418052E-5	0.05
18	74671779	G	A	18	76959823	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.76053998909407E-4	0.076
18	74671779	G	C	18	76959823	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.76053998909407E-4	0.008
18	74671779	G	T	18	76959823	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.62034798586913E-4	0.006
18	74671780	G	A	18	76959824	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.87544548170259E-5	0.0
18	74671780	G	C	18	76959824	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.09961376185257E-5	0.0
18	74671780	G	T	18	76959824	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.87544548170259E-5	0.0
18	74672623	T	A	18	76960667	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0142886034739008	0.296
18	74672623	T	C	18	76960667	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	5.00681489084118E-5	0.0
18	74672623	T	G	18	76960667	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99961660691161	0.964
18	74672624	T	A	18	76960668	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.46294672834864	0.36
18	74672624	T	C	18	76960668	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.014031599976707	0.138
18	74672624	T	G	18	76960668	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.114780566011229	0.354
18	74672625	T	A	18	76960669	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0700331085111068	0.498
18	74672625	T	C	18	76960669	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.76551281831302E-4	0.024
18	74672625	T	G	18	76960669	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0720789686120342	0.466
18	74672626	T	A	18	76960670	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00565965732303251	0.248
18	74672626	T	C	18	76960670	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.43129153396261E-4	0.03
18	74672626	T	G	18	76960670	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00773507436685726	0.256
18	74672627	C	A	18	76960671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.81225839107039E-5	0.062
18	74672627	C	G	18	76960671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.36935685978731E-4	0.014
18	74672627	C	T	18	76960671	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.04170614998863E-4	0.014
18	74672628	T	A	18	76960672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.9996541135504	0.924
18	74672628	T	C	18	76960672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.82519450551179E-5	0.052
18	74672628	T	G	18	76960672	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00123096580890231	0.24
18	74672629	G	A	18	76960673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.07452864422574E-5	0.006
18	74672629	G	C	18	76960673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.10038046739249E-5	0.022
18	74672629	G	T	18	76960673	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.1279211206016E-5	0.004
18	74672630	T	A	18	76960674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0632784829712971	0.24
18	74672630	T	C	18	76960674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.05237384673612E-4	0.028
18	74672630	T	G	18	76960674	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0263809917555991	0.204
18	74672631	A	C	18	76960675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.42447487575273E-5	0.002
18	74672631	A	G	18	76960675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	6.85242444427002E-5	0.0
18	74672631	A	T	18	76960675	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.48981300354735E-5	0.0
18	74672632	C	A	18	76960676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.994044392663643	0.658
18	74672632	C	G	18	76960676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999610684116869	0.86
18	74672632	C	T	18	76960676	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00635167222097235	0.156
18	74672633	A	C	18	76960677	y	y	splicing	ZNF236(NM_007345:exon30:c.5237-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5243-2A>C;ENST00000253159:exon30:c.5237-2A>C;ENST00000543926:exon31:c.5319-2A>C)	.	.	0.999955521744805	0.936
18	74672633	A	G	18	76960677	y	y	splicing	ZNF236(NM_007345:exon30:c.5237-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5243-2A>G;ENST00000253159:exon30:c.5237-2A>G;ENST00000543926:exon31:c.5319-2A>G)	.	.	0.999955521744805	0.936
18	74672633	A	T	18	76960677	y	y	splicing	ZNF236(NM_007345:exon30:c.5237-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5243-2A>T;ENST00000253159:exon30:c.5237-2A>T;ENST00000543926:exon31:c.5319-2A>T)	.	.	0.999955521744805	0.936
18	74672634	G	A	18	76960678	y	y	splicing	ZNF236(NM_007345:exon30:c.5237-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5243-1G>A;ENST00000253159:exon30:c.5237-1G>A;ENST00000543926:exon31:c.5319-1G>A)	.	.	0.999981760802075	0.944
18	74672634	G	C	18	76960678	y	y	splicing	ZNF236(NM_007345:exon30:c.5237-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5243-1G>C;ENST00000253159:exon30:c.5237-1G>C;ENST00000543926:exon31:c.5319-1G>C)	.	.	0.999981760802075	0.944
18	74672634	G	T	18	76960678	y	y	splicing	ZNF236(NM_007345:exon30:c.5237-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5243-1G>T;ENST00000253159:exon30:c.5237-1G>T;ENST00000543926:exon31:c.5319-1G>T)	.	.	0.999981760802075	0.944
18	74672635	G	A	18	76960679	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon30:c.G5237A:p.G1746E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.G5237A:p.G1746E;ENSG00000130856:ENST00000320610:exon30:c.G5243A:p.G1748E;	0.945601748632857	0.654
18	74672635	G	C	18	76960679	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon30:c.G5237C:p.G1746A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.G5237C:p.G1746A;ENSG00000130856:ENST00000320610:exon30:c.G5243C:p.G1748A;	0.911976904564044	0.79
18	74672635	G	T	18	76960679	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon30:c.G5237T:p.G1746V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.G5237T:p.G1746V;ENSG00000130856:ENST00000320610:exon30:c.G5243T:p.G1748V;	0.909900604699848	0.744
18	74672636	G	A	18	76960680	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon30:c.G5238A:p.G1746G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.G5238A:p.G1746G;ENSG00000130856:ENST00000320610:exon30:c.G5244A:p.G1748G;	8.00306595853502E-5	0.002
18	74672636	G	C	18	76960680	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon30:c.G5238C:p.G1746G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.G5238C:p.G1746G;ENSG00000130856:ENST00000320610:exon30:c.G5244C:p.G1748G;	2.09126859929499E-5	0.002
18	74672636	G	T	18	76960680	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon30:c.G5238T:p.G1746G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.G5238T:p.G1746G;ENSG00000130856:ENST00000320610:exon30:c.G5244T:p.G1748G;	5.72986393042127E-5	0.008
18	74672809	C	A	18	76960853	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon30:c.C5411A:p.A1804D;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.C5411A:p.A1804D;ENSG00000130856:ENST00000320610:exon30:c.C5417A:p.A1806D;	1.98660450274802E-4	0.056
18	74672809	C	G	18	76960853	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon30:c.C5411G:p.A1804G;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.C5411G:p.A1804G;ENSG00000130856:ENST00000320610:exon30:c.C5417G:p.A1806G;	0.0294409898347833	0.158
18	74672809	C	T	18	76960853	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon30:c.C5411T:p.A1804V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.C5411T:p.A1804V;ENSG00000130856:ENST00000320610:exon30:c.C5417T:p.A1806V;	0.0363583003115711	0.226
18	74672810	T	A	18	76960854	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon30:c.T5412A:p.A1804A;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.T5412A:p.A1804A;ENSG00000130856:ENST00000320610:exon30:c.T5418A:p.A1806A;	2.03330737614102E-5	0.078
18	74672810	T	C	18	76960854	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon30:c.T5412C:p.A1804A;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.T5412C:p.A1804A;ENSG00000130856:ENST00000320610:exon30:c.T5418C:p.A1806A;	7.46219036941285E-6	0.0
18	74672810	T	G	18	76960854	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon30:c.T5412G:p.A1804A;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.T5412G:p.A1804A;ENSG00000130856:ENST00000320610:exon30:c.T5418G:p.A1806A;	3.16528753508258E-5	0.0
18	74672811	G	A	18	76960855	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon30:c.G5413A:p.G1805R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.G5413A:p.G1805R;ENSG00000130856:ENST00000320610:exon30:c.G5419A:p.G1807R;	0.999904177027395	0.992
18	74672811	G	C	18	76960855	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon30:c.G5413C:p.G1805R;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon30:c.G5413C:p.G1805R;ENSG00000130856:ENST00000320610:exon30:c.G5419C:p.G1807R;	0.999845944359525	0.966
18	74672811	G	T	18	76960855	y	y	exonic	ZNF236	stopgain SNV	ZNF236:NM_007345:exon30:c.G5413T:p.G1805X;	exonic	ENSG00000130856	stopgain SNV	ENSG00000130856:ENST00000253159:exon30:c.G5413T:p.G1805X;ENSG00000130856:ENST00000320610:exon30:c.G5419T:p.G1807X;	0.999988322670157	0.946
18	74672812	G	A	18	76960856	y	y	splicing	ZNF236(NM_007345:exon30:c.5413+1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5419+1G>A;ENST00000253159:exon30:c.5413+1G>A;ENST00000543926:exon31:c.5495+1G>A)	.	.	0.99993314117114	0.948
18	74672812	G	C	18	76960856	y	y	splicing	ZNF236(NM_007345:exon30:c.5413+1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5419+1G>C;ENST00000253159:exon30:c.5413+1G>C;ENST00000543926:exon31:c.5495+1G>C)	.	.	0.999933757597683	0.948
18	74672812	G	T	18	76960856	y	y	splicing	ZNF236(NM_007345:exon30:c.5413+1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5419+1G>T;ENST00000253159:exon30:c.5413+1G>T;ENST00000543926:exon31:c.5495+1G>T)	.	.	0.999933757597683	0.948
18	74672813	T	A	18	76960857	y	y	splicing	ZNF236(NM_007345:exon30:c.5413+2T>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5419+2T>A;ENST00000253159:exon30:c.5413+2T>A;ENST00000543926:exon31:c.5495+2T>A)	.	.	0.999938221968836	0.896
18	74672813	T	C	18	76960857	y	y	splicing	ZNF236(NM_007345:exon30:c.5413+2T>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5419+2T>C;ENST00000253159:exon30:c.5413+2T>C;ENST00000543926:exon31:c.5495+2T>C)	.	.	0.999934948233454	0.902
18	74672813	T	G	18	76960857	y	y	splicing	ZNF236(NM_007345:exon30:c.5413+2T>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon30:c.5419+2T>G;ENST00000253159:exon30:c.5413+2T>G;ENST00000543926:exon31:c.5495+2T>G)	.	.	0.999938221968836	0.892
18	74672814	G	A	18	76960858	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.86527631685197E-5	0.004
18	74672814	G	C	18	76960858	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.899281330269461	0.606
18	74672814	G	T	18	76960858	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.837064499270324	0.55
18	74672815	A	C	18	76960859	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.844220047038218	0.642
18	74672815	A	G	18	76960859	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.990390089543141	0.792
18	74672815	A	T	18	76960859	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.998731513595352	0.868
18	74672816	G	A	18	76960860	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.99997448028654	0.96
18	74672816	G	C	18	76960860	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999983363336936	0.954
18	74672816	G	T	18	76960860	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999989235109643	0.98
18	74672817	A	C	18	76960861	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.69606104807992E-5	0.002
18	74672817	A	G	18	76960861	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.04129417830287E-5	0.0
18	74672817	A	T	18	76960861	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.00684534904205E-5	0.0
18	74672818	A	C	18	76960862	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.4421882184938E-5	0.056
18	74672818	A	G	18	76960862	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.87902752106412E-5	0.056
18	74672818	A	T	18	76960862	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.69573946694763E-4	0.026
18	74672819	T	A	18	76960863	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.30081017321732E-6	0.0
18	74672819	T	C	18	76960863	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.30081017321732E-6	0.0
18	74672819	T	G	18	76960863	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.30081017321732E-6	0.0
18	74680159	T	A	18	76968203	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00630459211096221	0.21
18	74680159	T	C	18	76968203	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.97115143286135E-4	0.016
18	74680159	T	G	18	76968203	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00309541826935636	0.148
18	74680160	C	A	18	76968204	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	9.13016279430005E-4	0.054
18	74680160	C	G	18	76968204	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.49009026383737E-4	0.084
18	74680160	C	T	18	76968204	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.6729367058015E-5	0.0
18	74680161	T	A	18	76968205	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.997502011898466	0.836
18	74680161	T	C	18	76968205	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.48233356335121E-4	0.012
18	74680161	T	G	18	76968205	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0580079073174959	0.138
18	74680162	G	A	18	76968206	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.13031655229112E-4	0.03
18	74680162	G	C	18	76968206	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	3.63889524197218E-5	0.0
18	74680162	G	T	18	76968206	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.34316403109995E-5	0.006
18	74680163	C	A	18	76968207	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	4.61992579934356E-4	0.126
18	74680163	C	G	18	76968207	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0057169010154227	0.076
18	74680163	C	T	18	76968207	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.45661172798213E-5	0.0
18	74680164	A	C	18	76968208	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.27219349862041E-5	0.0
18	74680164	A	G	18	76968208	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.88444744937529E-5	0.0
18	74680164	A	T	18	76968208	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.27219349862041E-5	0.0
18	74680165	T	A	18	76968209	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.00265831478716625	0.146
18	74680165	T	C	18	76968209	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	8.60618560819232E-5	0.0
18	74680165	T	G	18	76968209	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999071333087937	0.962
18	74680166	A	C	18	76968210	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.9155086702121E-5	0.0
18	74680166	A	G	18	76968210	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	7.06341561599038E-6	0.0
18	74680166	A	T	18	76968210	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	1.27219349862041E-5	0.0
18	74680167	A	C	18	76968211	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.62618993033964E-5	0.094
18	74680167	A	G	18	76968211	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.922453666680679	0.768
18	74680167	A	T	18	76968211	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	2.48505268449273E-4	0.018
18	74680168	C	A	18	76968212	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.996740163798629	0.808
18	74680168	C	G	18	76968212	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.999864789934517	0.838
18	74680168	C	T	18	76968212	y	y	intronic	ZNF236	.	.	intronic	ENSG00000130856	.	.	0.0243745780031696	0.242
18	74680169	A	C	18	76968213	y	y	splicing	ZNF236(NM_007345:exon31:c.5414-2A>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon31:c.5420-2A>C;ENST00000253159:exon31:c.5414-2A>C;ENST00000543926:exon32:c.5496-2A>C)	.	.	0.999972155025474	0.888
18	74680169	A	G	18	76968213	y	y	splicing	ZNF236(NM_007345:exon31:c.5414-2A>G)	.	.	splicing	ENSG00000130856(ENST00000320610:exon31:c.5420-2A>G;ENST00000253159:exon31:c.5414-2A>G;ENST00000543926:exon32:c.5496-2A>G)	.	.	0.999972155025474	0.888
18	74680169	A	T	18	76968213	y	y	splicing	ZNF236(NM_007345:exon31:c.5414-2A>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon31:c.5420-2A>T;ENST00000253159:exon31:c.5414-2A>T;ENST00000543926:exon32:c.5496-2A>T)	.	.	0.999982151912279	0.914
18	74680170	G	A	18	76968214	y	y	splicing	ZNF236(NM_007345:exon31:c.5414-1G>A)	.	.	splicing	ENSG00000130856(ENST00000320610:exon31:c.5420-1G>A;ENST00000253159:exon31:c.5414-1G>A;ENST00000543926:exon32:c.5496-1G>A)	.	.	0.99996748057446	0.924
18	74680170	G	C	18	76968214	y	y	splicing	ZNF236(NM_007345:exon31:c.5414-1G>C)	.	.	splicing	ENSG00000130856(ENST00000320610:exon31:c.5420-1G>C;ENST00000253159:exon31:c.5414-1G>C;ENST00000543926:exon32:c.5496-1G>C)	.	.	0.999968430223941	0.862
18	74680170	G	T	18	76968214	y	y	splicing	ZNF236(NM_007345:exon31:c.5414-1G>T)	.	.	splicing	ENSG00000130856(ENST00000320610:exon31:c.5420-1G>T;ENST00000253159:exon31:c.5414-1G>T;ENST00000543926:exon32:c.5496-1G>T)	.	.	0.99996748057446	0.924
18	74680171	G	A	18	76968215	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon31:c.G5414A:p.G1805E;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon31:c.G5414A:p.G1805E;ENSG00000130856:ENST00000320610:exon31:c.G5420A:p.G1807E;	0.633307962318361	0.528
18	74680171	G	C	18	76968215	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon31:c.G5414C:p.G1805A;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon31:c.G5414C:p.G1805A;ENSG00000130856:ENST00000320610:exon31:c.G5420C:p.G1807A;	0.742344983196339	0.566
18	74680171	G	T	18	76968215	y	y	exonic	ZNF236	nonsynonymous SNV	ZNF236:NM_007345:exon31:c.G5414T:p.G1805V;	exonic	ENSG00000130856	nonsynonymous SNV	ENSG00000130856:ENST00000253159:exon31:c.G5414T:p.G1805V;ENSG00000130856:ENST00000320610:exon31:c.G5420T:p.G1807V;	0.993608945949836	0.71
18	74680172	A	C	18	76968216	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon31:c.A5415C:p.G1805G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon31:c.A5415C:p.G1805G;ENSG00000130856:ENST00000320610:exon31:c.A5421C:p.G1807G;	1.07721825310954E-5	0.0
18	74680172	A	G	18	76968216	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon31:c.A5415G:p.G1805G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon31:c.A5415G:p.G1805G;ENSG00000130856:ENST00000320610:exon31:c.A5421G:p.G1807G;	2.39440799068212E-5	0.024
18	74680172	A	T	18	76968216	y	y	exonic	ZNF236	synonymous SNV	ZNF236:NM_007345:exon31:c.A5415T:p.G1805G;	exonic	ENSG00000130856	synonymous SNV	ENSG00000130856:ENST00000253159:exon31:c.A5415T:p.G1805G;ENSG00000130856:ENST00000320610:exon31:c.A5421T:p.G1807G;	5.89171835944506E-6	0.0
18	74691993	G	A	18	76980037	n	y	UTR3	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000527041:exon3:c.C229T:p.H77Y;	1.45933605625061E-4	0.088
18	74691993	G	C	18	76980037	n	y	UTR3	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000527041:exon3:c.C229G:p.H77D;	1.82343278661922E-4	0.088
18	74691993	G	T	18	76980037	n	y	UTR3	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000527041:exon3:c.C229A:p.H77N;	1.26872967149703E-4	0.09
18	74691994	C	A	18	76980038	n	y	UTR3	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000527041:exon3:c.G228T:p.K76N;	8.14749515976023E-5	0.108
18	74691994	C	G	18	76980038	n	y	UTR3	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000527041:exon3:c.G228C:p.K76N;	8.14749515976023E-5	0.122
18	74691994	C	T	18	76980038	n	y	UTR3	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000527041:exon3:c.G228A:p.K76K;	2.86359644168464E-5	0.0
18	74691995	C	A	18	76980039	n	y	UTR3	MBP	.	.	splicing	ENSG00000197971(ENST00000527041:exon4:c.228-1G>T)	.	.	3.02642503822698E-5	0.012
18	74691995	C	G	18	76980039	n	y	UTR3	MBP	.	.	splicing	ENSG00000197971(ENST00000527041:exon4:c.228-1G>C)	.	.	3.02642503822698E-5	0.012
18	74691995	C	T	18	76980039	n	y	UTR3	MBP	.	.	splicing	ENSG00000197971(ENST00000527041:exon4:c.228-1G>A)	.	.	3.02642503822698E-5	0.012
18	74691996	T	A	18	76980040	n	y	UTR3	MBP	.	.	splicing	ENSG00000197971(ENST00000527041:exon4:c.228-2A>T)	.	.	7.62500938860321E-5	0.0
18	74691996	T	C	18	76980040	n	y	UTR3	MBP	.	.	splicing	ENSG00000197971(ENST00000527041:exon4:c.228-2A>G)	.	.	7.62500938860321E-5	0.0
18	74691996	T	G	18	76980040	n	y	UTR3	MBP	.	.	splicing	ENSG00000197971(ENST00000527041:exon4:c.228-2A>C)	.	.	7.62500938860321E-5	0.0
18	74691997	C	A	18	76980041	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	7.18924664478357E-5	0.0
18	74691997	C	G	18	76980041	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.51383879749987E-5	0.0
18	74691997	C	T	18	76980041	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	7.18924664478357E-5	0.0
18	74691998	C	A	18	76980042	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.23990001900786E-4	0.002
18	74691998	C	G	18	76980042	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.23990001900786E-4	0.0
18	74691998	C	T	18	76980042	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.23990001900786E-4	0.01
18	74691999	A	C	18	76980043	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.62965044666173E-5	0.0
18	74691999	A	G	18	76980043	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.59706358747764E-5	0.0
18	74691999	A	T	18	76980043	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.62965044666173E-5	0.0
18	74692000	T	A	18	76980044	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	7.62500938860321E-5	0.002
18	74692000	T	C	18	76980044	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	7.62500938860321E-5	0.0
18	74692000	T	G	18	76980044	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	7.62500938860321E-5	0.0
18	74692001	G	A	18	76980045	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	4.90028566392549E-5	0.002
18	74692001	G	C	18	76980045	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	4.90028566392549E-5	0.002
18	74692001	G	T	18	76980045	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	4.90028566392549E-5	0.002
18	74692002	G	A	18	76980046	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.00523490668566399	0.02
18	74692002	G	C	18	76980046	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.00354350835859427	0.044
18	74692002	G	T	18	76980046	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.00523490668566399	0.012
18	74692003	C	A	18	76980047	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0104323750583643	0.03
18	74692003	C	G	18	76980047	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0104323750583643	0.03
18	74692003	C	T	18	76980047	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0160919902133591	0.036
18	74692004	A	C	18	76980048	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0070858361840929	0.114
18	74692004	A	G	18	76980048	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0070858361840929	0.114
18	74692004	A	T	18	76980048	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0138230731375874	0.178
18	74692005	G	A	18	76980049	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0255259907198915	0.048
18	74692005	G	C	18	76980049	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0122503184426585	0.026
18	74692005	G	T	18	76980049	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0188773629436582	0.036
18	74692006	T	A	18	76980050	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	8.98117770450933E-5	0.0
18	74692006	T	C	18	76980050	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.27668735052053E-4	0.0
18	74692006	T	G	18	76980050	n	y	UTR3	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.27668735052053E-4	0.002
18	74692426	C	A	18	76980470	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon6:c.G518T:p.G173V;MBP:NM_001025090:exon6:c.G473T:p.G158V;MBP:NM_001025081:exon7:c.G551T:p.G184V;MBP:NM_001025101:exon9:c.G872T:p.G291V;MBP:NM_001025092:exon5:c.G440T:p.G147V;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000528160:exon3:c.G124T:p.E42X;	0.934761171378022	0.8
18	74692426	C	G	18	76980470	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon6:c.G518C:p.G173A;MBP:NM_001025090:exon6:c.G473C:p.G158A;MBP:NM_001025081:exon7:c.G551C:p.G184A;MBP:NM_001025101:exon9:c.G872C:p.G291A;MBP:NM_001025092:exon5:c.G440C:p.G147A;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon7:c.G551C:p.G184A;ENSG00000197971:ENST00000528160:exon3:c.G124C:p.E42Q;ENSG00000197971:ENST00000397869:exon6:c.G668C:p.G223A;ENSG00000197971:ENST00000397866:exon6:c.G473C:p.G158A;ENSG00000197971:ENST00000397875:exon6:c.G503C:p.G168A;ENSG00000197971:ENST00000359645:exon6:c.G518C:p.G173A;ENSG00000197971:ENST00000355994:exon9:c.G872C:p.G291A;ENSG00000197971:ENST00000354542:exon2:c.G179C:p.G60A;ENSG00000197971:ENST00000397865:exon5:c.G440C:p.G147A;ENSG00000197971:ENST00000579129:exon7:c.G719C:p.G240A;ENSG00000197971:ENST00000580402:exon8:c.G872C:p.G291A;ENSG00000197971:ENST00000526111:exon7:c.G407C:p.G136A;	0.914177145841964	0.776
18	74692426	C	T	18	76980470	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon6:c.G518A:p.G173E;MBP:NM_001025090:exon6:c.G473A:p.G158E;MBP:NM_001025081:exon7:c.G551A:p.G184E;MBP:NM_001025101:exon9:c.G872A:p.G291E;MBP:NM_001025092:exon5:c.G440A:p.G147E;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon7:c.G551A:p.G184E;ENSG00000197971:ENST00000528160:exon3:c.G124A:p.E42K;ENSG00000197971:ENST00000397869:exon6:c.G668A:p.G223E;ENSG00000197971:ENST00000397866:exon6:c.G473A:p.G158E;ENSG00000197971:ENST00000397875:exon6:c.G503A:p.G168E;ENSG00000197971:ENST00000359645:exon6:c.G518A:p.G173E;ENSG00000197971:ENST00000355994:exon9:c.G872A:p.G291E;ENSG00000197971:ENST00000354542:exon2:c.G179A:p.G60E;ENSG00000197971:ENST00000397865:exon5:c.G440A:p.G147E;ENSG00000197971:ENST00000579129:exon7:c.G719A:p.G240E;ENSG00000197971:ENST00000580402:exon8:c.G872A:p.G291E;ENSG00000197971:ENST00000526111:exon7:c.G407A:p.G136E;	0.926703071265441	0.85
18	74692427	C	A	18	76980471	y	y	exonic	MBP	stopgain SNV	MBP:NM_002385:exon6:c.G517T:p.G173X;MBP:NM_001025090:exon6:c.G472T:p.G158X;MBP:NM_001025081:exon7:c.G550T:p.G184X;MBP:NM_001025101:exon9:c.G871T:p.G291X;MBP:NM_001025092:exon5:c.G439T:p.G147X;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000382582:exon7:c.G550T:p.G184X;ENSG00000197971:ENST00000397869:exon6:c.G667T:p.G223X;ENSG00000197971:ENST00000397866:exon6:c.G472T:p.G158X;ENSG00000197971:ENST00000397875:exon6:c.G502T:p.G168X;ENSG00000197971:ENST00000359645:exon6:c.G517T:p.G173X;ENSG00000197971:ENST00000355994:exon9:c.G871T:p.G291X;ENSG00000197971:ENST00000354542:exon2:c.G178T:p.G60X;ENSG00000197971:ENST00000397865:exon5:c.G439T:p.G147X;ENSG00000197971:ENST00000579129:exon7:c.G718T:p.G240X;ENSG00000197971:ENST00000580402:exon8:c.G871T:p.G291X;ENSG00000197971:ENST00000526111:exon7:c.G406T:p.G136X;	0.989782115388768	0.724
18	74692427	C	G	18	76980471	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon6:c.G517C:p.G173R;MBP:NM_001025090:exon6:c.G472C:p.G158R;MBP:NM_001025081:exon7:c.G550C:p.G184R;MBP:NM_001025101:exon9:c.G871C:p.G291R;MBP:NM_001025092:exon5:c.G439C:p.G147R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon7:c.G550C:p.G184R;ENSG00000197971:ENST00000528160:exon3:c.G123C:p.W41C;ENSG00000197971:ENST00000397869:exon6:c.G667C:p.G223R;ENSG00000197971:ENST00000397866:exon6:c.G472C:p.G158R;ENSG00000197971:ENST00000397875:exon6:c.G502C:p.G168R;ENSG00000197971:ENST00000359645:exon6:c.G517C:p.G173R;ENSG00000197971:ENST00000355994:exon9:c.G871C:p.G291R;ENSG00000197971:ENST00000354542:exon2:c.G178C:p.G60R;ENSG00000197971:ENST00000397865:exon5:c.G439C:p.G147R;ENSG00000197971:ENST00000579129:exon7:c.G718C:p.G240R;ENSG00000197971:ENST00000580402:exon8:c.G871C:p.G291R;ENSG00000197971:ENST00000526111:exon7:c.G406C:p.G136R;	0.992692214153521	0.74
18	74692427	C	T	18	76980471	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon6:c.G517A:p.G173R;MBP:NM_001025090:exon6:c.G472A:p.G158R;MBP:NM_001025081:exon7:c.G550A:p.G184R;MBP:NM_001025101:exon9:c.G871A:p.G291R;MBP:NM_001025092:exon5:c.G439A:p.G147R;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000528160:exon3:c.G123A:p.W41X;	0.993290981933196	0.694
18	74692428	C	A	18	76980472	y	y	splicing	MBP(NM_002385:exon7:c.517-1G>T;NM_001025090:exon7:c.472-1G>T;NM_001025092:exon6:c.439-1G>T;NM_001025081:exon8:c.550-1G>T;NM_001025101:exon10:c.871-1G>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon8:c.550-1G>T;ENST00000355994:exon10:c.871-1G>T;ENST00000397866:exon7:c.472-1G>T;ENST00000397875:exon7:c.502-1G>T;ENST00000397865:exon6:c.439-1G>T;ENST00000359645:exon7:c.517-1G>T;ENST00000528160:exon4:c.123-1G>T;ENST00000577755:exon5:c.316-1G>T;ENST00000527975:exon7:c.320-1G>T;ENST00000397869:exon7:c.667-1G>T;ENST00000354542:exon3:c.178-1G>T;ENST00000531144:exon7:c.390-1G>T;ENST00000583474:exon8:c.397-1G>T;ENST00000533278:exon8:c.405-1G>T;ENST00000526111:exon8:c.406-1G>T;ENST00000579129:exon8:c.718-1G>T;ENST00000580402:exon9:c.871-1G>T;ENST00000578193:exon8:c.515-1G>T)	.	.	0.999938422912956	0.93
18	74692428	C	G	18	76980472	y	y	splicing	MBP(NM_002385:exon7:c.517-1G>C;NM_001025090:exon7:c.472-1G>C;NM_001025092:exon6:c.439-1G>C;NM_001025081:exon8:c.550-1G>C;NM_001025101:exon10:c.871-1G>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon8:c.550-1G>C;ENST00000355994:exon10:c.871-1G>C;ENST00000397866:exon7:c.472-1G>C;ENST00000397875:exon7:c.502-1G>C;ENST00000397865:exon6:c.439-1G>C;ENST00000359645:exon7:c.517-1G>C;ENST00000528160:exon4:c.123-1G>C;ENST00000577755:exon5:c.316-1G>C;ENST00000527975:exon7:c.320-1G>C;ENST00000397869:exon7:c.667-1G>C;ENST00000354542:exon3:c.178-1G>C;ENST00000531144:exon7:c.390-1G>C;ENST00000583474:exon8:c.397-1G>C;ENST00000533278:exon8:c.405-1G>C;ENST00000526111:exon8:c.406-1G>C;ENST00000579129:exon8:c.718-1G>C;ENST00000580402:exon9:c.871-1G>C;ENST00000578193:exon8:c.515-1G>C)	.	.	0.999938422912956	0.932
18	74692428	C	T	18	76980472	y	y	splicing	MBP(NM_002385:exon7:c.517-1G>A;NM_001025090:exon7:c.472-1G>A;NM_001025092:exon6:c.439-1G>A;NM_001025081:exon8:c.550-1G>A;NM_001025101:exon10:c.871-1G>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon8:c.550-1G>A;ENST00000355994:exon10:c.871-1G>A;ENST00000397866:exon7:c.472-1G>A;ENST00000397875:exon7:c.502-1G>A;ENST00000397865:exon6:c.439-1G>A;ENST00000359645:exon7:c.517-1G>A;ENST00000528160:exon4:c.123-1G>A;ENST00000577755:exon5:c.316-1G>A;ENST00000527975:exon7:c.320-1G>A;ENST00000397869:exon7:c.667-1G>A;ENST00000354542:exon3:c.178-1G>A;ENST00000531144:exon7:c.390-1G>A;ENST00000583474:exon8:c.397-1G>A;ENST00000533278:exon8:c.405-1G>A;ENST00000526111:exon8:c.406-1G>A;ENST00000579129:exon8:c.718-1G>A;ENST00000580402:exon9:c.871-1G>A;ENST00000578193:exon8:c.515-1G>A)	.	.	0.999976137096505	0.93
18	74692429	T	A	18	76980473	y	y	splicing	MBP(NM_002385:exon7:c.517-2A>T;NM_001025090:exon7:c.472-2A>T;NM_001025092:exon6:c.439-2A>T;NM_001025081:exon8:c.550-2A>T;NM_001025101:exon10:c.871-2A>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon8:c.550-2A>T;ENST00000355994:exon10:c.871-2A>T;ENST00000397866:exon7:c.472-2A>T;ENST00000397875:exon7:c.502-2A>T;ENST00000397865:exon6:c.439-2A>T;ENST00000359645:exon7:c.517-2A>T;ENST00000528160:exon4:c.123-2A>T;ENST00000577755:exon5:c.316-2A>T;ENST00000527975:exon7:c.320-2A>T;ENST00000397869:exon7:c.667-2A>T;ENST00000354542:exon3:c.178-2A>T;ENST00000531144:exon7:c.390-2A>T;ENST00000583474:exon8:c.397-2A>T;ENST00000533278:exon8:c.405-2A>T;ENST00000526111:exon8:c.406-2A>T;ENST00000579129:exon8:c.718-2A>T;ENST00000580402:exon9:c.871-2A>T;ENST00000578193:exon8:c.515-2A>T)	.	.	0.999966203349492	0.934
18	74692429	T	C	18	76980473	y	y	splicing	MBP(NM_002385:exon7:c.517-2A>G;NM_001025090:exon7:c.472-2A>G;NM_001025092:exon6:c.439-2A>G;NM_001025081:exon8:c.550-2A>G;NM_001025101:exon10:c.871-2A>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon8:c.550-2A>G;ENST00000355994:exon10:c.871-2A>G;ENST00000397866:exon7:c.472-2A>G;ENST00000397875:exon7:c.502-2A>G;ENST00000397865:exon6:c.439-2A>G;ENST00000359645:exon7:c.517-2A>G;ENST00000528160:exon4:c.123-2A>G;ENST00000577755:exon5:c.316-2A>G;ENST00000527975:exon7:c.320-2A>G;ENST00000397869:exon7:c.667-2A>G;ENST00000354542:exon3:c.178-2A>G;ENST00000531144:exon7:c.390-2A>G;ENST00000583474:exon8:c.397-2A>G;ENST00000533278:exon8:c.405-2A>G;ENST00000526111:exon8:c.406-2A>G;ENST00000579129:exon8:c.718-2A>G;ENST00000580402:exon9:c.871-2A>G;ENST00000578193:exon8:c.515-2A>G)	.	.	0.999966203349492	0.944
18	74692429	T	G	18	76980473	y	y	splicing	MBP(NM_002385:exon7:c.517-2A>C;NM_001025090:exon7:c.472-2A>C;NM_001025092:exon6:c.439-2A>C;NM_001025081:exon8:c.550-2A>C;NM_001025101:exon10:c.871-2A>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon8:c.550-2A>C;ENST00000355994:exon10:c.871-2A>C;ENST00000397866:exon7:c.472-2A>C;ENST00000397875:exon7:c.502-2A>C;ENST00000397865:exon6:c.439-2A>C;ENST00000359645:exon7:c.517-2A>C;ENST00000528160:exon4:c.123-2A>C;ENST00000577755:exon5:c.316-2A>C;ENST00000527975:exon7:c.320-2A>C;ENST00000397869:exon7:c.667-2A>C;ENST00000354542:exon3:c.178-2A>C;ENST00000531144:exon7:c.390-2A>C;ENST00000583474:exon8:c.397-2A>C;ENST00000533278:exon8:c.405-2A>C;ENST00000526111:exon8:c.406-2A>C;ENST00000579129:exon8:c.718-2A>C;ENST00000580402:exon9:c.871-2A>C;ENST00000578193:exon8:c.515-2A>C)	.	.	0.999966203349492	0.938
18	74692430	G	A	18	76980474	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.29101806311743E-4	0.12
18	74692430	G	C	18	76980474	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.986524871815839	0.742
18	74692430	G	T	18	76980474	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.0413285630275795	0.328
18	74692431	A	C	18	76980475	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	5.04606162069568E-5	0.0
18	74692431	A	G	18	76980475	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.19091363320384E-5	0.002
18	74692431	A	T	18	76980475	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	5.2270998378535E-5	0.0
18	74692432	A	C	18	76980476	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.00859066912102541	0.398
18	74692432	A	G	18	76980476	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.00268535702628057	0.108
18	74692432	A	T	18	76980476	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	0.00627018127701074	0.356
18	74692433	A	C	18	76980477	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	9.93252582647565E-5	0.044
18	74692433	A	G	18	76980477	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.93535844924659E-5	0.004
18	74692433	A	T	18	76980477	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.62053652897234E-4	0.032
18	74692434	A	C	18	76980478	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	4.45320892164908E-4	0.12
18	74692434	A	G	18	76980478	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.07356205908275E-4	0.044
18	74692434	A	T	18	76980478	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.55817304995417E-4	0.108
18	74692435	G	A	18	76980479	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	8.04635750390213E-5	0.002
18	74692435	G	C	18	76980479	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.2976357317545E-4	0.034
18	74692435	G	T	18	76980479	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.11741717227471E-4	0.038
18	74692436	G	A	18	76980480	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.40466882551175E-5	0.0
18	74692436	G	C	18	76980480	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.04724122034883E-4	0.01
18	74692436	G	T	18	76980480	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.03730609356335E-4	0.01
18	74692437	A	C	18	76980481	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	5.39551345195062E-5	0.052
18	74692437	A	G	18	76980481	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.0725792216237E-5	0.0
18	74692437	A	T	18	76980481	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.33770026710964E-4	0.044
18	74692438	A	C	18	76980482	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.22008092507682E-4	0.178
18	74692438	A	G	18	76980482	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.52816505674053E-4	0.062
18	74692438	A	T	18	76980482	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.37020164411E-4	0.156
18	74692439	G	A	18	76980483	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.68189510853043E-5	0.0
18	74692439	G	C	18	76980483	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.98747913263235E-5	0.008
18	74692439	G	T	18	76980483	y	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.02603138234564E-5	0.04
18	74694529	G	A	18	76982573	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.71486889510802E-5	0.0
18	74694529	G	C	18	76982573	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74694529	G	T	18	76982573	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74694530	T	A	18	76982574	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	7.42544334184685E-5	0.01
18	74694530	T	C	18	76982574	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	7.42544334184685E-5	0.01
18	74694530	T	G	18	76982574	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	7.42544334184685E-5	0.01
18	74694531	T	A	18	76982575	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.54291542054858E-4	0.008
18	74694531	T	C	18	76982575	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.54291542054858E-4	0.014
18	74694531	T	G	18	76982575	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.54291542054858E-4	0.014
18	74694532	C	A	18	76982576	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.26718658278921E-5	0.004
18	74694532	C	G	18	76982576	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.26718658278921E-5	0.002
18	74694532	C	T	18	76982576	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.26718658278921E-5	0.002
18	74694533	C	A	18	76982577	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.27163650926202E-4	0.016
18	74694533	C	G	18	76982577	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	9.57123356397867E-5	0.014
18	74694533	C	T	18	76982577	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.27163650926202E-4	0.016
18	74694534	T	A	18	76982578	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.78864525412067E-5	0.0
18	74694534	T	C	18	76982578	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.45277156108894E-5	0.0
18	74694534	T	G	18	76982578	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.45277156108894E-5	0.0
18	74694535	A	C	18	76982579	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.514+2T>G)	.	.	2.17380870795729E-5	0.0
18	74694535	A	G	18	76982579	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.514+2T>C)	.	.	2.17380870795729E-5	0.0
18	74694535	A	T	18	76982579	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.514+2T>A)	.	.	2.17380870795729E-5	0.0
18	74694536	C	A	18	76982580	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.514+1G>T)	.	.	6.06850435703539E-5	0.006
18	74694536	C	G	18	76982580	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.514+1G>C)	.	.	5.32599655124467E-5	0.006
18	74694536	C	T	18	76982580	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.514+1G>A)	.	.	6.06850435703539E-5	0.006
18	74694537	C	A	18	76982581	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.48367148474546E-5	0.002
18	74694537	C	G	18	76982581	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.37501361942679E-5	0.002
18	74694537	C	T	18	76982581	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.48367148474546E-5	0.004
18	74694538	G	A	18	76982582	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.10275622159801E-5	0.0
18	74694538	G	C	18	76982582	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.10275622159801E-5	0.0
18	74694538	G	T	18	76982582	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.10275622159801E-5	0.0
18	74694539	A	C	18	76982583	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74694539	A	G	18	76982583	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74694539	A	T	18	76982583	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.71486889510802E-5	0.006
18	74694578	T	A	18	76982622	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	stoploss SNV	ENSG00000197971:ENST00000578193:exon6:c.A473T:p.X158L;	1.58927937202005E-5	0.002
18	74694578	T	C	18	76982622	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	stoploss SNV	ENSG00000197971:ENST00000578193:exon6:c.A473G:p.X158W;	1.0288925866825E-5	0.002
18	74694578	T	G	18	76982622	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	stoploss SNV	ENSG00000197971:ENST00000578193:exon6:c.A473C:p.X158S;	1.0288925866825E-5	0.002
18	74694579	A	C	18	76982623	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	stoploss SNV	ENSG00000197971:ENST00000578193:exon6:c.T472G:p.X158E;	1.37501361942679E-5	0.02
18	74694579	A	G	18	76982623	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	stoploss SNV	ENSG00000197971:ENST00000578193:exon6:c.T472C:p.X158Q;	1.37501361942679E-5	0.004
18	74694579	A	T	18	76982623	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	stoploss SNV	ENSG00000197971:ENST00000578193:exon6:c.T472A:p.X158K;	1.48367148474546E-5	0.004
18	74694580	C	A	18	76982624	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.472-1G>T)	.	.	0.00236544145345248	0.006
18	74694580	C	G	18	76982624	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.472-1G>C)	.	.	0.00199590941298324	0.006
18	74694580	C	T	18	76982624	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.472-1G>A)	.	.	0.00127198210562724	0.006
18	74694581	T	A	18	76982625	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.472-2A>T)	.	.	1.2709332397549E-4	0.004
18	74694581	T	C	18	76982625	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.472-2A>G)	.	.	6.12869275217467E-5	0.002
18	74694581	T	G	18	76982625	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000578193:exon7:c.472-2A>C)	.	.	6.12869275217467E-5	0.002
18	74694582	G	A	18	76982626	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	4.25762508039554E-5	0.002
18	74694582	G	C	18	76982626	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	9.33930376896499E-5	0.002
18	74694582	G	T	18	76982626	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	9.33930376896499E-5	0.004
18	74694583	A	C	18	76982627	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	9.63734018024452E-5	0.004
18	74694583	A	G	18	76982627	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	9.63734018024452E-5	0.002
18	74694583	A	T	18	76982627	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	5.30245828806351E-5	0.002
18	74694584	T	A	18	76982628	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.9057330508269E-5	0.002
18	74694584	T	C	18	76982628	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.9057330508269E-5	0.002
18	74694584	T	G	18	76982628	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	2.9057330508269E-5	0.002
18	74694585	T	A	18	76982629	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.76020749564062E-5	0.002
18	74694585	T	C	18	76982629	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.76020749564062E-5	0.002
18	74694585	T	G	18	76982629	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.76020749564062E-5	0.002
18	74694586	T	A	18	76982630	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.25666866588399E-5	0.002
18	74694586	T	C	18	76982630	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.25666866588399E-5	0.002
18	74694586	T	G	18	76982630	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.25666866588399E-5	0.002
18	74694587	C	A	18	76982631	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.83891202920338E-5	0.008
18	74694587	C	G	18	76982631	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	9.14505838604605E-5	0.008
18	74694587	C	T	18	76982631	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	6.83891202920338E-5	0.0
18	74694588	C	A	18	76982632	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.51355887585099E-4	0.008
18	74694588	C	G	18	76982632	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.29699117342802E-4	0.0
18	74694588	C	T	18	76982632	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.51355887585099E-4	0.004
18	74694589	A	C	18	76982633	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.56524208923312E-4	0.006
18	74694589	A	G	18	76982633	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.56524208923312E-4	0.004
18	74694589	A	T	18	76982633	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.7905403730535E-4	0.016
18	74694590	A	C	18	76982634	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.17284917348813E-4	0.012
18	74694590	A	G	18	76982634	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.17284917348813E-4	0.004
18	74694590	A	T	18	76982634	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.22023718257519E-4	0.004
18	74694591	C	A	18	76982635	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.3410990456425E-4	0.02
18	74694591	C	G	18	76982635	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	1.80018259252686E-4	0.006
18	74694591	C	T	18	76982635	n	y	intronic	MBP	.	.	ncRNA_UTR3	ENSG00000197971	.	.	3.3410990456425E-4	0.0
18	74696723	T	A	18	76984767	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.87259030807253E-5	0.0
18	74696723	T	C	18	76984767	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.05134409949439E-5	0.0
18	74696723	T	G	18	76984767	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.13953993063452E-5	0.002
18	74696724	A	C	18	76984768	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.59468197358882E-5	0.0
18	74696724	A	G	18	76984768	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.64583599607755E-5	0.0
18	74696724	A	T	18	76984768	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.56072768233602E-5	0.0
18	74696725	C	A	18	76984769	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.36094762652819E-5	0.002
18	74696725	C	G	18	76984769	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.64433512375816E-5	0.028
18	74696725	C	T	18	76984769	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.93707778379157E-5	0.014
18	74696726	C	A	18	76984770	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.465408755617155	0.422
18	74696726	C	G	18	76984770	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.672111168920871	0.516
18	74696726	C	T	18	76984770	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.68330064538901	0.456
18	74696727	T	A	18	76984771	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.947733249959691	0.662
18	74696727	T	C	18	76984771	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.958125929931371	0.608
18	74696727	T	G	18	76984771	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.94649823864	0.454
18	74696728	T	A	18	76984772	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.994164925549817	0.86
18	74696728	T	C	18	76984772	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.059516965158414	0.25
18	74696728	T	G	18	76984772	y	n	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.993398037861343	0.882
18	74696729	A	C	18	76984773	y	n	splicing	MBP(NM_002385:exon6:c.516+2T>G;NM_001025090:exon6:c.471+2T>G;NM_001025092:exon5:c.438+2T>G;NM_001025081:exon7:c.549+2T>G;NM_001025101:exon9:c.870+2T>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.549+2T>G;ENST00000355994:exon9:c.870+2T>G;ENST00000397866:exon6:c.471+2T>G;ENST00000397875:exon6:c.501+2T>G;ENST00000397865:exon5:c.438+2T>G;ENST00000359645:exon6:c.516+2T>G;ENST00000528160:exon3:c.122+2T>G;ENST00000577755:exon4:c.315+2T>G;ENST00000527975:exon6:c.319+2T>G;ENST00000397869:exon6:c.666+2T>G;ENST00000531144:exon6:c.389+2T>G;ENST00000583474:exon7:c.396+2T>G;ENST00000533278:exon7:c.404+2T>G;ENST00000526111:exon7:c.405+2T>G;ENST00000580402:exon8:c.870+2T>G;ENST00000578193:exon6:c.471+2T>G)	.	.	0.999989614548265	0.778
18	74696729	A	G	18	76984773	y	n	splicing	MBP(NM_002385:exon6:c.516+2T>C;NM_001025090:exon6:c.471+2T>C;NM_001025092:exon5:c.438+2T>C;NM_001025081:exon7:c.549+2T>C;NM_001025101:exon9:c.870+2T>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.549+2T>C;ENST00000355994:exon9:c.870+2T>C;ENST00000397866:exon6:c.471+2T>C;ENST00000397875:exon6:c.501+2T>C;ENST00000397865:exon5:c.438+2T>C;ENST00000359645:exon6:c.516+2T>C;ENST00000528160:exon3:c.122+2T>C;ENST00000577755:exon4:c.315+2T>C;ENST00000527975:exon6:c.319+2T>C;ENST00000397869:exon6:c.666+2T>C;ENST00000531144:exon6:c.389+2T>C;ENST00000583474:exon7:c.396+2T>C;ENST00000533278:exon7:c.404+2T>C;ENST00000526111:exon7:c.405+2T>C;ENST00000580402:exon8:c.870+2T>C;ENST00000578193:exon6:c.471+2T>C)	.	.	0.999414723119437	0.776
18	74696729	A	T	18	76984773	y	n	splicing	MBP(NM_002385:exon6:c.516+2T>A;NM_001025090:exon6:c.471+2T>A;NM_001025092:exon5:c.438+2T>A;NM_001025081:exon7:c.549+2T>A;NM_001025101:exon9:c.870+2T>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.549+2T>A;ENST00000355994:exon9:c.870+2T>A;ENST00000397866:exon6:c.471+2T>A;ENST00000397875:exon6:c.501+2T>A;ENST00000397865:exon5:c.438+2T>A;ENST00000359645:exon6:c.516+2T>A;ENST00000528160:exon3:c.122+2T>A;ENST00000577755:exon4:c.315+2T>A;ENST00000527975:exon6:c.319+2T>A;ENST00000397869:exon6:c.666+2T>A;ENST00000531144:exon6:c.389+2T>A;ENST00000583474:exon7:c.396+2T>A;ENST00000533278:exon7:c.404+2T>A;ENST00000526111:exon7:c.405+2T>A;ENST00000580402:exon8:c.870+2T>A;ENST00000578193:exon6:c.471+2T>A)	.	.	0.999980516178445	0.796
18	74696730	C	A	18	76984774	y	n	splicing	MBP(NM_002385:exon6:c.516+1G>T;NM_001025090:exon6:c.471+1G>T;NM_001025092:exon5:c.438+1G>T;NM_001025081:exon7:c.549+1G>T;NM_001025101:exon9:c.870+1G>T)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon7:c.549+1G>T;ENST00000355994:exon9:c.870+1G>T;ENST00000397866:exon6:c.471+1G>T;ENST00000397875:exon6:c.501+1G>T;ENST00000397865:exon5:c.438+1G>T;ENST00000359645:exon6:c.516+1G>T;ENST00000528160:exon3:c.122+1G>T;ENST00000577755:exon4:c.315+1G>T;ENST00000527975:exon6:c.319+1G>T;ENST00000397869:exon6:c.666+1G>T;ENST00000531144:exon6:c.389+1G>T;ENST00000583474:exon7:c.396+1G>T;ENST00000533278:exon7:c.404+1G>T;ENST00000526111:exon7:c.405+1G>T;ENST00000580402:exon8:c.870+1G>T;ENST00000578193:exon6:c.471+1G>T)	unknown	UNKNOWN	0.999980255680118	0.79
18	74696730	C	G	18	76984774	y	n	splicing	MBP(NM_002385:exon6:c.516+1G>C;NM_001025090:exon6:c.471+1G>C;NM_001025092:exon5:c.438+1G>C;NM_001025081:exon7:c.549+1G>C;NM_001025101:exon9:c.870+1G>C)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon7:c.549+1G>C;ENST00000355994:exon9:c.870+1G>C;ENST00000397866:exon6:c.471+1G>C;ENST00000397875:exon6:c.501+1G>C;ENST00000397865:exon5:c.438+1G>C;ENST00000359645:exon6:c.516+1G>C;ENST00000528160:exon3:c.122+1G>C;ENST00000577755:exon4:c.315+1G>C;ENST00000527975:exon6:c.319+1G>C;ENST00000397869:exon6:c.666+1G>C;ENST00000531144:exon6:c.389+1G>C;ENST00000583474:exon7:c.396+1G>C;ENST00000533278:exon7:c.404+1G>C;ENST00000526111:exon7:c.405+1G>C;ENST00000580402:exon8:c.870+1G>C;ENST00000578193:exon6:c.471+1G>C)	unknown	UNKNOWN	0.999980255680118	0.774
18	74696730	C	T	18	76984774	y	n	splicing	MBP(NM_002385:exon6:c.516+1G>A;NM_001025090:exon6:c.471+1G>A;NM_001025092:exon5:c.438+1G>A;NM_001025081:exon7:c.549+1G>A;NM_001025101:exon9:c.870+1G>A)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon7:c.549+1G>A;ENST00000355994:exon9:c.870+1G>A;ENST00000397866:exon6:c.471+1G>A;ENST00000397875:exon6:c.501+1G>A;ENST00000397865:exon5:c.438+1G>A;ENST00000359645:exon6:c.516+1G>A;ENST00000528160:exon3:c.122+1G>A;ENST00000577755:exon4:c.315+1G>A;ENST00000527975:exon6:c.319+1G>A;ENST00000397869:exon6:c.666+1G>A;ENST00000531144:exon6:c.389+1G>A;ENST00000583474:exon7:c.396+1G>A;ENST00000533278:exon7:c.404+1G>A;ENST00000526111:exon7:c.405+1G>A;ENST00000580402:exon8:c.870+1G>A;ENST00000578193:exon6:c.471+1G>A)	unknown	UNKNOWN	0.999962958601995	0.794
18	74696731	C	A	18	76984775	y	n	exonic	MBP	synonymous SNV	MBP:NM_002385:exon5:c.G516T:p.L172L;MBP:NM_001025090:exon5:c.G471T:p.L157L;MBP:NM_001025081:exon6:c.G549T:p.L183L;MBP:NM_001025101:exon8:c.G870T:p.L290L;MBP:NM_001025092:exon4:c.G438T:p.L146L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000528160:exon2:c.G122T:p.W41L;	0.998877490621647	0.93
18	74696731	C	G	18	76984775	y	n	exonic	MBP	synonymous SNV	MBP:NM_002385:exon5:c.G516C:p.L172L;MBP:NM_001025090:exon5:c.G471C:p.L157L;MBP:NM_001025081:exon6:c.G549C:p.L183L;MBP:NM_001025101:exon8:c.G870C:p.L290L;MBP:NM_001025092:exon4:c.G438C:p.L146L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000528160:exon2:c.G122C:p.W41S;	0.999942371968876	0.912
18	74696731	C	T	18	76984775	y	n	exonic	MBP	synonymous SNV	MBP:NM_002385:exon5:c.G516A:p.L172L;MBP:NM_001025090:exon5:c.G471A:p.L157L;MBP:NM_001025081:exon6:c.G549A:p.L183L;MBP:NM_001025101:exon8:c.G870A:p.L290L;MBP:NM_001025092:exon4:c.G438A:p.L146L;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000528160:exon2:c.G122A:p.W41X;	0.994194302724994	0.938
18	74696732	A	C	18	76984776	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.T515G:p.L172R;MBP:NM_001025090:exon5:c.T470G:p.L157R;MBP:NM_001025081:exon6:c.T548G:p.L183R;MBP:NM_001025101:exon8:c.T869G:p.L290R;MBP:NM_001025092:exon4:c.T437G:p.L146R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.T548G:p.L183R;ENSG00000197971:ENST00000528160:exon2:c.T121G:p.W41G;ENSG00000197971:ENST00000397869:exon5:c.T665G:p.L222R;ENSG00000197971:ENST00000397866:exon5:c.T470G:p.L157R;ENSG00000197971:ENST00000397875:exon5:c.T500G:p.L167R;ENSG00000197971:ENST00000359645:exon5:c.T515G:p.L172R;ENSG00000197971:ENST00000355994:exon8:c.T869G:p.L290R;ENSG00000197971:ENST00000397865:exon4:c.T437G:p.L146R;ENSG00000197971:ENST00000447114:exon5:c.T302G:p.L101R;ENSG00000197971:ENST00000580402:exon7:c.T869G:p.L290R;ENSG00000197971:ENST00000526111:exon6:c.T404G:p.L135R;ENSG00000197971:ENST00000578193:exon5:c.T470G:p.L157R;	0.0640869197769598	0.36
18	74696732	A	G	18	76984776	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.T515C:p.L172P;MBP:NM_001025090:exon5:c.T470C:p.L157P;MBP:NM_001025081:exon6:c.T548C:p.L183P;MBP:NM_001025101:exon8:c.T869C:p.L290P;MBP:NM_001025092:exon4:c.T437C:p.L146P;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.T548C:p.L183P;ENSG00000197971:ENST00000528160:exon2:c.T121C:p.W41R;ENSG00000197971:ENST00000397869:exon5:c.T665C:p.L222P;ENSG00000197971:ENST00000397866:exon5:c.T470C:p.L157P;ENSG00000197971:ENST00000397875:exon5:c.T500C:p.L167P;ENSG00000197971:ENST00000359645:exon5:c.T515C:p.L172P;ENSG00000197971:ENST00000355994:exon8:c.T869C:p.L290P;ENSG00000197971:ENST00000397865:exon4:c.T437C:p.L146P;ENSG00000197971:ENST00000447114:exon5:c.T302C:p.L101P;ENSG00000197971:ENST00000580402:exon7:c.T869C:p.L290P;ENSG00000197971:ENST00000526111:exon6:c.T404C:p.L135P;ENSG00000197971:ENST00000578193:exon5:c.T470C:p.L157P;	0.352777682542081	0.518
18	74696732	A	T	18	76984776	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.T515A:p.L172Q;MBP:NM_001025090:exon5:c.T470A:p.L157Q;MBP:NM_001025081:exon6:c.T548A:p.L183Q;MBP:NM_001025101:exon8:c.T869A:p.L290Q;MBP:NM_001025092:exon4:c.T437A:p.L146Q;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.T548A:p.L183Q;ENSG00000197971:ENST00000528160:exon2:c.T121A:p.W41R;ENSG00000197971:ENST00000397869:exon5:c.T665A:p.L222Q;ENSG00000197971:ENST00000397866:exon5:c.T470A:p.L157Q;ENSG00000197971:ENST00000397875:exon5:c.T500A:p.L167Q;ENSG00000197971:ENST00000359645:exon5:c.T515A:p.L172Q;ENSG00000197971:ENST00000355994:exon8:c.T869A:p.L290Q;ENSG00000197971:ENST00000397865:exon4:c.T437A:p.L146Q;ENSG00000197971:ENST00000447114:exon5:c.T302A:p.L101Q;ENSG00000197971:ENST00000580402:exon7:c.T869A:p.L290Q;ENSG00000197971:ENST00000526111:exon6:c.T404A:p.L135Q;ENSG00000197971:ENST00000578193:exon5:c.T470A:p.L157Q;	0.176146291946721	0.336
18	74696733	G	A	18	76984777	y	n	exonic	MBP	synonymous SNV	MBP:NM_002385:exon5:c.C514T:p.L172L;MBP:NM_001025090:exon5:c.C469T:p.L157L;MBP:NM_001025081:exon6:c.C547T:p.L183L;MBP:NM_001025101:exon8:c.C868T:p.L290L;MBP:NM_001025092:exon4:c.C436T:p.L146L;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.C547T:p.L183L;ENSG00000197971:ENST00000528160:exon2:c.C120T:p.S40S;ENSG00000197971:ENST00000397869:exon5:c.C664T:p.L222L;ENSG00000197971:ENST00000397866:exon5:c.C469T:p.L157L;ENSG00000197971:ENST00000397875:exon5:c.C499T:p.L167L;ENSG00000197971:ENST00000359645:exon5:c.C514T:p.L172L;ENSG00000197971:ENST00000355994:exon8:c.C868T:p.L290L;ENSG00000197971:ENST00000397865:exon4:c.C436T:p.L146L;ENSG00000197971:ENST00000447114:exon5:c.C301T:p.L101L;ENSG00000197971:ENST00000580402:exon7:c.C868T:p.L290L;ENSG00000197971:ENST00000526111:exon6:c.C403T:p.L135L;ENSG00000197971:ENST00000578193:exon5:c.C469T:p.L157L;	0.0446268961842839	0.248
18	74696733	G	C	18	76984777	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.C514G:p.L172V;MBP:NM_001025090:exon5:c.C469G:p.L157V;MBP:NM_001025081:exon6:c.C547G:p.L183V;MBP:NM_001025101:exon8:c.C868G:p.L290V;MBP:NM_001025092:exon4:c.C436G:p.L146V;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.C547G:p.L183V;ENSG00000197971:ENST00000528160:exon2:c.C120G:p.S40R;ENSG00000197971:ENST00000397869:exon5:c.C664G:p.L222V;ENSG00000197971:ENST00000397866:exon5:c.C469G:p.L157V;ENSG00000197971:ENST00000397875:exon5:c.C499G:p.L167V;ENSG00000197971:ENST00000359645:exon5:c.C514G:p.L172V;ENSG00000197971:ENST00000355994:exon8:c.C868G:p.L290V;ENSG00000197971:ENST00000397865:exon4:c.C436G:p.L146V;ENSG00000197971:ENST00000447114:exon5:c.C301G:p.L101V;ENSG00000197971:ENST00000580402:exon7:c.C868G:p.L290V;ENSG00000197971:ENST00000526111:exon6:c.C403G:p.L135V;ENSG00000197971:ENST00000578193:exon5:c.C469G:p.L157V;	0.148041936920418	0.322
18	74696733	G	T	18	76984777	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.C514A:p.L172M;MBP:NM_001025090:exon5:c.C469A:p.L157M;MBP:NM_001025081:exon6:c.C547A:p.L183M;MBP:NM_001025101:exon8:c.C868A:p.L290M;MBP:NM_001025092:exon4:c.C436A:p.L146M;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.C547A:p.L183M;ENSG00000197971:ENST00000528160:exon2:c.C120A:p.S40R;ENSG00000197971:ENST00000397869:exon5:c.C664A:p.L222M;ENSG00000197971:ENST00000397866:exon5:c.C469A:p.L157M;ENSG00000197971:ENST00000397875:exon5:c.C499A:p.L167M;ENSG00000197971:ENST00000359645:exon5:c.C514A:p.L172M;ENSG00000197971:ENST00000355994:exon8:c.C868A:p.L290M;ENSG00000197971:ENST00000397865:exon4:c.C436A:p.L146M;ENSG00000197971:ENST00000447114:exon5:c.C301A:p.L101M;ENSG00000197971:ENST00000580402:exon7:c.C868A:p.L290M;ENSG00000197971:ENST00000526111:exon6:c.C403A:p.L135M;ENSG00000197971:ENST00000578193:exon5:c.C469A:p.L157M;	0.003911235165781	0.132
18	74696849	C	A	18	76984893	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.G398T:p.G133V;MBP:NM_001025090:exon5:c.G353T:p.G118V;MBP:NM_001025081:exon6:c.G431T:p.G144V;MBP:NM_001025101:exon8:c.G752T:p.G251V;MBP:NM_001025092:exon4:c.G320T:p.G107V;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.G431T:p.G144V;ENSG00000197971:ENST00000397869:exon5:c.G548T:p.G183V;ENSG00000197971:ENST00000397866:exon5:c.G353T:p.G118V;ENSG00000197971:ENST00000397875:exon5:c.G383T:p.G128V;ENSG00000197971:ENST00000359645:exon5:c.G398T:p.G133V;ENSG00000197971:ENST00000355994:exon8:c.G752T:p.G251V;ENSG00000197971:ENST00000397865:exon4:c.G320T:p.G107V;ENSG00000197971:ENST00000447114:exon5:c.G185T:p.G62V;ENSG00000197971:ENST00000580402:exon7:c.G752T:p.G251V;ENSG00000197971:ENST00000526111:exon6:c.G287T:p.G96V;ENSG00000197971:ENST00000578193:exon5:c.G353T:p.G118V;	0.695555186195998	0.726
18	74696849	C	G	18	76984893	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.G398C:p.G133A;MBP:NM_001025090:exon5:c.G353C:p.G118A;MBP:NM_001025081:exon6:c.G431C:p.G144A;MBP:NM_001025101:exon8:c.G752C:p.G251A;MBP:NM_001025092:exon4:c.G320C:p.G107A;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.G431C:p.G144A;ENSG00000197971:ENST00000397869:exon5:c.G548C:p.G183A;ENSG00000197971:ENST00000397866:exon5:c.G353C:p.G118A;ENSG00000197971:ENST00000397875:exon5:c.G383C:p.G128A;ENSG00000197971:ENST00000359645:exon5:c.G398C:p.G133A;ENSG00000197971:ENST00000355994:exon8:c.G752C:p.G251A;ENSG00000197971:ENST00000397865:exon4:c.G320C:p.G107A;ENSG00000197971:ENST00000447114:exon5:c.G185C:p.G62A;ENSG00000197971:ENST00000580402:exon7:c.G752C:p.G251A;ENSG00000197971:ENST00000526111:exon6:c.G287C:p.G96A;ENSG00000197971:ENST00000578193:exon5:c.G353C:p.G118A;	0.737525818971925	0.724
18	74696849	C	T	18	76984893	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.G398A:p.G133E;MBP:NM_001025090:exon5:c.G353A:p.G118E;MBP:NM_001025081:exon6:c.G431A:p.G144E;MBP:NM_001025101:exon8:c.G752A:p.G251E;MBP:NM_001025092:exon4:c.G320A:p.G107E;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.G431A:p.G144E;ENSG00000197971:ENST00000397869:exon5:c.G548A:p.G183E;ENSG00000197971:ENST00000397866:exon5:c.G353A:p.G118E;ENSG00000197971:ENST00000397875:exon5:c.G383A:p.G128E;ENSG00000197971:ENST00000359645:exon5:c.G398A:p.G133E;ENSG00000197971:ENST00000355994:exon8:c.G752A:p.G251E;ENSG00000197971:ENST00000397865:exon4:c.G320A:p.G107E;ENSG00000197971:ENST00000447114:exon5:c.G185A:p.G62E;ENSG00000197971:ENST00000580402:exon7:c.G752A:p.G251E;ENSG00000197971:ENST00000526111:exon6:c.G287A:p.G96E;ENSG00000197971:ENST00000578193:exon5:c.G353A:p.G118E;	0.710103321484215	0.718
18	74696850	C	A	18	76984894	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.G397T:p.G133W;MBP:NM_001025090:exon5:c.G352T:p.G118W;MBP:NM_001025081:exon6:c.G430T:p.G144W;MBP:NM_001025101:exon8:c.G751T:p.G251W;MBP:NM_001025092:exon4:c.G319T:p.G107W;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.G430T:p.G144W;ENSG00000197971:ENST00000397869:exon5:c.G547T:p.G183W;ENSG00000197971:ENST00000397866:exon5:c.G352T:p.G118W;ENSG00000197971:ENST00000397875:exon5:c.G382T:p.G128W;ENSG00000197971:ENST00000359645:exon5:c.G397T:p.G133W;ENSG00000197971:ENST00000355994:exon8:c.G751T:p.G251W;ENSG00000197971:ENST00000397865:exon4:c.G319T:p.G107W;ENSG00000197971:ENST00000447114:exon5:c.G184T:p.G62W;ENSG00000197971:ENST00000580402:exon7:c.G751T:p.G251W;ENSG00000197971:ENST00000526111:exon6:c.G286T:p.G96W;ENSG00000197971:ENST00000578193:exon5:c.G352T:p.G118W;	0.997591875337623	0.814
18	74696850	C	G	18	76984894	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.G397C:p.G133R;MBP:NM_001025090:exon5:c.G352C:p.G118R;MBP:NM_001025081:exon6:c.G430C:p.G144R;MBP:NM_001025101:exon8:c.G751C:p.G251R;MBP:NM_001025092:exon4:c.G319C:p.G107R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.G430C:p.G144R;ENSG00000197971:ENST00000397869:exon5:c.G547C:p.G183R;ENSG00000197971:ENST00000397866:exon5:c.G352C:p.G118R;ENSG00000197971:ENST00000397875:exon5:c.G382C:p.G128R;ENSG00000197971:ENST00000359645:exon5:c.G397C:p.G133R;ENSG00000197971:ENST00000355994:exon8:c.G751C:p.G251R;ENSG00000197971:ENST00000397865:exon4:c.G319C:p.G107R;ENSG00000197971:ENST00000447114:exon5:c.G184C:p.G62R;ENSG00000197971:ENST00000580402:exon7:c.G751C:p.G251R;ENSG00000197971:ENST00000526111:exon6:c.G286C:p.G96R;ENSG00000197971:ENST00000578193:exon5:c.G352C:p.G118R;	0.988861160552277	0.686
18	74696850	C	T	18	76984894	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon5:c.G397A:p.G133R;MBP:NM_001025090:exon5:c.G352A:p.G118R;MBP:NM_001025081:exon6:c.G430A:p.G144R;MBP:NM_001025101:exon8:c.G751A:p.G251R;MBP:NM_001025092:exon4:c.G319A:p.G107R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon6:c.G430A:p.G144R;ENSG00000197971:ENST00000397869:exon5:c.G547A:p.G183R;ENSG00000197971:ENST00000397866:exon5:c.G352A:p.G118R;ENSG00000197971:ENST00000397875:exon5:c.G382A:p.G128R;ENSG00000197971:ENST00000359645:exon5:c.G397A:p.G133R;ENSG00000197971:ENST00000355994:exon8:c.G751A:p.G251R;ENSG00000197971:ENST00000397865:exon4:c.G319A:p.G107R;ENSG00000197971:ENST00000447114:exon5:c.G184A:p.G62R;ENSG00000197971:ENST00000580402:exon7:c.G751A:p.G251R;ENSG00000197971:ENST00000526111:exon6:c.G286A:p.G96R;ENSG00000197971:ENST00000578193:exon5:c.G352A:p.G118R;	0.94670627755802	0.61
18	74696851	C	A	18	76984895	y	y	splicing	MBP(NM_002385:exon6:c.397-1G>T;NM_001025090:exon6:c.352-1G>T;NM_001025092:exon5:c.319-1G>T;NM_001025081:exon7:c.430-1G>T;NM_001025101:exon9:c.751-1G>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.430-1G>T;ENST00000355994:exon9:c.751-1G>T;ENST00000397866:exon6:c.352-1G>T;ENST00000397875:exon6:c.382-1G>T;ENST00000397865:exon5:c.319-1G>T;ENST00000359645:exon6:c.397-1G>T;ENST00000577755:exon4:c.196-1G>T;ENST00000527975:exon6:c.200-1G>T;ENST00000397869:exon6:c.547-1G>T;ENST00000531144:exon6:c.270-1G>T;ENST00000583474:exon7:c.277-1G>T;ENST00000533278:exon7:c.285-1G>T;ENST00000526111:exon7:c.286-1G>T;ENST00000580402:exon8:c.751-1G>T;ENST00000578193:exon6:c.352-1G>T;ENST00000447114:exon6:c.184-1G>T;ENST00000473302:exon6:c.425-1G>T;ENST00000483025:exon7:c.440-1G>T;ENST00000493623:exon6:c.493-1G>T)	.	.	0.999988247793601	0.924
18	74696851	C	G	18	76984895	y	y	splicing	MBP(NM_002385:exon6:c.397-1G>C;NM_001025090:exon6:c.352-1G>C;NM_001025092:exon5:c.319-1G>C;NM_001025081:exon7:c.430-1G>C;NM_001025101:exon9:c.751-1G>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.430-1G>C;ENST00000355994:exon9:c.751-1G>C;ENST00000397866:exon6:c.352-1G>C;ENST00000397875:exon6:c.382-1G>C;ENST00000397865:exon5:c.319-1G>C;ENST00000359645:exon6:c.397-1G>C;ENST00000577755:exon4:c.196-1G>C;ENST00000527975:exon6:c.200-1G>C;ENST00000397869:exon6:c.547-1G>C;ENST00000531144:exon6:c.270-1G>C;ENST00000583474:exon7:c.277-1G>C;ENST00000533278:exon7:c.285-1G>C;ENST00000526111:exon7:c.286-1G>C;ENST00000580402:exon8:c.751-1G>C;ENST00000578193:exon6:c.352-1G>C;ENST00000447114:exon6:c.184-1G>C;ENST00000473302:exon6:c.425-1G>C;ENST00000483025:exon7:c.440-1G>C;ENST00000493623:exon6:c.493-1G>C)	.	.	0.999978952611685	0.924
18	74696851	C	T	18	76984895	y	y	splicing	MBP(NM_002385:exon6:c.397-1G>A;NM_001025090:exon6:c.352-1G>A;NM_001025092:exon5:c.319-1G>A;NM_001025081:exon7:c.430-1G>A;NM_001025101:exon9:c.751-1G>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.430-1G>A;ENST00000355994:exon9:c.751-1G>A;ENST00000397866:exon6:c.352-1G>A;ENST00000397875:exon6:c.382-1G>A;ENST00000397865:exon5:c.319-1G>A;ENST00000359645:exon6:c.397-1G>A;ENST00000577755:exon4:c.196-1G>A;ENST00000527975:exon6:c.200-1G>A;ENST00000397869:exon6:c.547-1G>A;ENST00000531144:exon6:c.270-1G>A;ENST00000583474:exon7:c.277-1G>A;ENST00000533278:exon7:c.285-1G>A;ENST00000526111:exon7:c.286-1G>A;ENST00000580402:exon8:c.751-1G>A;ENST00000578193:exon6:c.352-1G>A;ENST00000447114:exon6:c.184-1G>A;ENST00000473302:exon6:c.425-1G>A;ENST00000483025:exon7:c.440-1G>A;ENST00000493623:exon6:c.493-1G>A)	.	.	0.999988247793601	0.924
18	74696852	T	A	18	76984896	y	y	splicing	MBP(NM_002385:exon6:c.397-2A>T;NM_001025090:exon6:c.352-2A>T;NM_001025092:exon5:c.319-2A>T;NM_001025081:exon7:c.430-2A>T;NM_001025101:exon9:c.751-2A>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.430-2A>T;ENST00000355994:exon9:c.751-2A>T;ENST00000397866:exon6:c.352-2A>T;ENST00000397875:exon6:c.382-2A>T;ENST00000397865:exon5:c.319-2A>T;ENST00000359645:exon6:c.397-2A>T;ENST00000577755:exon4:c.196-2A>T;ENST00000527975:exon6:c.200-2A>T;ENST00000397869:exon6:c.547-2A>T;ENST00000531144:exon6:c.270-2A>T;ENST00000583474:exon7:c.277-2A>T;ENST00000533278:exon7:c.285-2A>T;ENST00000526111:exon7:c.286-2A>T;ENST00000580402:exon8:c.751-2A>T;ENST00000578193:exon6:c.352-2A>T;ENST00000447114:exon6:c.184-2A>T;ENST00000473302:exon6:c.425-2A>T;ENST00000483025:exon7:c.440-2A>T;ENST00000493623:exon6:c.493-2A>T)	.	.	0.999993672935256	0.926
18	74696852	T	C	18	76984896	y	y	splicing	MBP(NM_002385:exon6:c.397-2A>G;NM_001025090:exon6:c.352-2A>G;NM_001025092:exon5:c.319-2A>G;NM_001025081:exon7:c.430-2A>G;NM_001025101:exon9:c.751-2A>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.430-2A>G;ENST00000355994:exon9:c.751-2A>G;ENST00000397866:exon6:c.352-2A>G;ENST00000397875:exon6:c.382-2A>G;ENST00000397865:exon5:c.319-2A>G;ENST00000359645:exon6:c.397-2A>G;ENST00000577755:exon4:c.196-2A>G;ENST00000527975:exon6:c.200-2A>G;ENST00000397869:exon6:c.547-2A>G;ENST00000531144:exon6:c.270-2A>G;ENST00000583474:exon7:c.277-2A>G;ENST00000533278:exon7:c.285-2A>G;ENST00000526111:exon7:c.286-2A>G;ENST00000580402:exon8:c.751-2A>G;ENST00000578193:exon6:c.352-2A>G;ENST00000447114:exon6:c.184-2A>G;ENST00000473302:exon6:c.425-2A>G;ENST00000483025:exon7:c.440-2A>G;ENST00000493623:exon6:c.493-2A>G)	.	.	0.999991781128047	0.928
18	74696852	T	G	18	76984896	y	y	splicing	MBP(NM_002385:exon6:c.397-2A>C;NM_001025090:exon6:c.352-2A>C;NM_001025092:exon5:c.319-2A>C;NM_001025081:exon7:c.430-2A>C;NM_001025101:exon9:c.751-2A>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon7:c.430-2A>C;ENST00000355994:exon9:c.751-2A>C;ENST00000397866:exon6:c.352-2A>C;ENST00000397875:exon6:c.382-2A>C;ENST00000397865:exon5:c.319-2A>C;ENST00000359645:exon6:c.397-2A>C;ENST00000577755:exon4:c.196-2A>C;ENST00000527975:exon6:c.200-2A>C;ENST00000397869:exon6:c.547-2A>C;ENST00000531144:exon6:c.270-2A>C;ENST00000583474:exon7:c.277-2A>C;ENST00000533278:exon7:c.285-2A>C;ENST00000526111:exon7:c.286-2A>C;ENST00000580402:exon8:c.751-2A>C;ENST00000578193:exon6:c.352-2A>C;ENST00000447114:exon6:c.184-2A>C;ENST00000473302:exon6:c.425-2A>C;ENST00000483025:exon7:c.440-2A>C;ENST00000493623:exon6:c.493-2A>C)	.	.	0.999991781128047	0.928
18	74696853	G	A	18	76984897	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.234926992416012	0.254
18	74696853	G	C	18	76984897	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.99986014456021	0.918
18	74696853	G	T	18	76984897	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.979346969010709	0.81
18	74696854	C	A	18	76984898	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.42082419660662E-4	0.0
18	74696854	C	G	18	76984898	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.98242316651566E-4	0.024
18	74696854	C	T	18	76984898	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.00117677599369021	0.016
18	74696855	A	C	18	76984899	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.00502138664082306	0.254
18	74696855	A	G	18	76984899	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	9.01014991917629E-4	0.026
18	74696855	A	T	18	76984899	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.998327871271457	0.82
18	74696856	A	C	18	76984900	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.0113835118557078	0.176
18	74696856	A	G	18	76984900	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.00157790830688036	0.028
18	74696856	A	T	18	76984900	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.0114928260801679	0.172
18	74696857	G	A	18	76984901	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.01087842476598E-4	0.044
18	74696857	G	C	18	76984901	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.70978445509891E-4	0.084
18	74696857	G	T	18	76984901	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.28468617439728E-4	0.16
18	74696858	A	C	18	76984902	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.98760909584943E-4	0.02
18	74696858	A	G	18	76984902	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.88996767952681E-5	0.002
18	74696858	A	T	18	76984902	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.28784243792483E-4	0.018
18	74696859	G	A	18	76984903	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.97478386629618E-5	0.002
18	74696859	G	C	18	76984903	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	9.66322546212723E-5	0.018
18	74696859	G	T	18	76984903	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.33090242194589E-5	0.018
18	74696860	A	C	18	76984904	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.0665718319046165	0.154
18	74696860	A	G	18	76984904	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.00811738934925958	0.032
18	74696860	A	T	18	76984904	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	0.0331954059040161	0.198
18	74696861	A	C	18	76984905	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.85421366436902E-5	0.13
18	74696861	A	G	18	76984905	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.58642565453423E-5	0.054
18	74696861	A	T	18	76984905	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.43638215043862E-4	0.206
18	74696862	G	A	18	76984906	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.46191039028368E-5	0.098
18	74696862	G	C	18	76984906	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.91206475051269E-5	0.03
18	74696862	G	T	18	76984906	y	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.18134483596174E-5	0.044
18	74697152	T	A	18	76985196	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.78864525412067E-5	0.0
18	74697152	T	C	18	76985196	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.78864525412067E-5	0.0
18	74697152	T	G	18	76985196	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.78864525412067E-5	0.0
18	74697153	T	A	18	76985197	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.14301101535901E-5	0.002
18	74697153	T	C	18	76985197	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.68219155180855E-5	0.002
18	74697153	T	G	18	76985197	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.68219155180855E-5	0.002
18	74697154	G	A	18	76985198	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.15849948155271E-5	0.006
18	74697154	G	C	18	76985198	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.15849948155271E-5	0.004
18	74697154	G	T	18	76985198	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.15849948155271E-5	0.004
18	74697155	C	A	18	76985199	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.41558647023099E-4	0.07
18	74697155	C	G	18	76985199	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.41558647023099E-4	0.056
18	74697155	C	T	18	76985199	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.80650664972837E-4	0.0
18	74697156	T	A	18	76985200	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.08291490468438E-5	0.028
18	74697156	T	C	18	76985200	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.08291490468438E-5	0.006
18	74697156	T	G	18	76985200	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.08291490468438E-5	0.006
18	74697157	T	A	18	76985201	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.26007143607885E-5	0.012
18	74697157	T	C	18	76985201	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.44571914076258E-5	0.006
18	74697157	T	G	18	76985201	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.44571914076258E-5	0.006
18	74697158	A	C	18	76985202	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.276+2T>G)	.	.	5.08291490468438E-5	0.006
18	74697158	A	G	18	76985202	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.276+2T>C)	.	.	5.08291490468438E-5	0.006
18	74697158	A	T	18	76985202	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.276+2T>A)	.	.	5.08291490468438E-5	0.008
18	74697159	C	A	18	76985203	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.276+1G>T)	.	.	1.80650664972837E-4	0.0
18	74697159	C	G	18	76985203	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.276+1G>C)	.	.	1.80650664972837E-4	0.0
18	74697159	C	T	18	76985203	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.276+1G>A)	.	.	1.80650664972837E-4	0.002
18	74697160	C	A	18	76985204	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.51383879749987E-5	0.004
18	74697160	C	G	18	76985204	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.71037690926497E-5	0.004
18	74697160	C	T	18	76985204	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.51383879749987E-5	0.0
18	74697161	T	A	18	76985205	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.80109675654916E-5	0.0
18	74697161	T	C	18	76985205	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.80109675654916E-5	0.0
18	74697161	T	G	18	76985205	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.80109675654916E-5	0.0
18	74697162	T	A	18	76985206	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.26007143607885E-5	0.008
18	74697162	T	C	18	76985206	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.26007143607885E-5	0.004
18	74697162	T	G	18	76985206	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.26007143607885E-5	0.004
18	74697165	C	A	18	76985209	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.11657407965104E-4	0.008
18	74697165	C	G	18	76985209	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.37205498882069E-5	0.002
18	74697165	C	T	18	76985209	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.11657407965104E-4	0.006
18	74697166	G	A	18	76985210	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.35520562038957E-5	0.0
18	74697166	G	C	18	76985210	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.35520562038957E-5	0.0
18	74697166	G	T	18	76985210	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.35520562038957E-5	0.0
18	74697167	C	A	18	76985211	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.270-1G>T)	.	.	7.52881759733747E-5	0.0
18	74697167	C	G	18	76985211	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.270-1G>C)	.	.	7.52881759733747E-5	0.0
18	74697167	C	T	18	76985211	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.270-1G>A)	.	.	8.30945796578933E-5	0.0
18	74697168	T	A	18	76985212	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.270-2A>T)	.	.	4.19523722086209E-5	0.0
18	74697168	T	C	18	76985212	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.270-2A>G)	.	.	7.62500938860321E-5	0.0
18	74697168	T	G	18	76985212	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000583474:exon6:c.270-2A>C)	.	.	7.62500938860321E-5	0.0
18	74697169	G	A	18	76985213	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.18924664478357E-5	0.0
18	74697169	G	C	18	76985213	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.51383879749987E-5	0.0
18	74697169	G	T	18	76985213	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.51383879749987E-5	0.0
18	74697170	T	A	18	76985214	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.01315188657279E-5	0.002
18	74697170	T	C	18	76985214	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.35428655471156E-5	0.004
18	74697170	T	G	18	76985214	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.35428655471156E-5	0.004
18	74697171	G	A	18	76985215	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.30945796578933E-5	0.0
18	74697171	G	C	18	76985215	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.30945796578933E-5	0.0
18	74697171	G	T	18	76985215	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.30945796578933E-5	0.0
18	74697172	G	A	18	76985216	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.30945796578933E-5	0.0
18	74697172	G	C	18	76985216	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.52881759733747E-5	0.0
18	74697172	G	T	18	76985216	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.30945796578933E-5	0.0
18	74697173	G	A	18	76985217	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.54864143880111E-4	0.014
18	74697173	G	C	18	76985217	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.35115461238441E-4	0.014
18	74697173	G	T	18	76985217	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.39218549020993E-4	0.014
18	74697174	G	A	18	76985218	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.92297816354753E-5	0.0
18	74697174	G	C	18	76985218	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.92297816354753E-5	0.0
18	74697174	G	T	18	76985218	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.92297816354753E-5	0.0
18	74697175	T	A	18	76985219	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.08540935467557E-5	0.0
18	74697175	T	C	18	76985219	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.08540935467557E-5	0.0
18	74697175	T	G	18	76985219	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.08540935467557E-5	0.0
18	74697176	G	A	18	76985220	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.05356074481699E-4	0.0
18	74697176	G	C	18	76985220	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.79186847495121E-4	0.0
18	74697176	G	T	18	76985220	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.38473198292947E-4	0.0
18	74697177	T	A	18	76985221	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.70539849446188E-5	0.02
18	74697177	T	C	18	76985221	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.70539849446188E-5	0.024
18	74697177	T	G	18	76985221	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	8.70539849446188E-5	0.024
18	74697178	T	A	18	76985222	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.99199617690849E-4	0.0
18	74697178	T	C	18	76985222	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.66537868021261E-4	0.0
18	74697178	T	G	18	76985222	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.66537868021261E-4	0.0
18	74700443	T	A	18	76988487	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.A359T:p.D120V;ENSG00000197971:ENST00000578873:exon5:c.A437T:p.D146V;	7.3798087716061E-5	0.002
18	74700443	T	C	18	76988487	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.A359G:p.D120G;ENSG00000197971:ENST00000578873:exon5:c.A437G:p.D146G;	8.89116834673016E-5	0.03
18	74700443	T	G	18	76988487	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.A359C:p.D120A;ENSG00000197971:ENST00000578873:exon5:c.A437C:p.D146A;	2.5237446002726E-4	0.0
18	74700444	C	A	18	76988488	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G358T:p.D120Y;ENSG00000197971:ENST00000578873:exon5:c.G436T:p.D146Y;	0.00505758990575665	0.078
18	74700444	C	G	18	76988488	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G358C:p.D120H;ENSG00000197971:ENST00000578873:exon5:c.G436C:p.D146H;	0.00720757122303219	0.024
18	74700444	C	T	18	76988488	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G358A:p.D120N;ENSG00000197971:ENST00000578873:exon5:c.G436A:p.D146N;	0.0119388943428857	0.04
18	74700445	A	C	18	76988489	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.T357G:p.G119G;ENSG00000197971:ENST00000578873:exon5:c.T435G:p.G145G;	0.988099389138518	0.81
18	74700445	A	G	18	76988489	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.T357C:p.G119G;ENSG00000197971:ENST00000578873:exon5:c.T435C:p.G145G;	0.876441180844376	0.698
18	74700445	A	T	18	76988489	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.T357A:p.G119G;ENSG00000197971:ENST00000578873:exon5:c.T435A:p.G145G;	0.977172160643955	0.72
18	74700446	C	A	18	76988490	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G356T:p.G119V;ENSG00000197971:ENST00000578873:exon5:c.G434T:p.G145V;	0.999985775897748	0.95
18	74700446	C	G	18	76988490	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G356C:p.G119A;ENSG00000197971:ENST00000578873:exon5:c.G434C:p.G145A;	0.999985348015312	0.972
18	74700446	C	T	18	76988490	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G356A:p.G119D;ENSG00000197971:ENST00000578873:exon5:c.G434A:p.G145D;	0.999981442408276	0.988
18	74700447	C	A	18	76988491	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G355T:p.G119C;ENSG00000197971:ENST00000578873:exon5:c.G433T:p.G145C;	0.00641451184630362	0.104
18	74700447	C	G	18	76988491	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G355C:p.G119R;ENSG00000197971:ENST00000578873:exon5:c.G433C:p.G145R;	0.0141355238123823	0.23
18	74700447	C	T	18	76988491	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G355A:p.G119S;ENSG00000197971:ENST00000578873:exon5:c.G433A:p.G145S;	0.0221594417837751	0.146
18	74700448	T	A	18	76988492	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.A354T:p.V118V;ENSG00000197971:ENST00000578873:exon5:c.A432T:p.V144V;	0.999859845650183	0.954
18	74700448	T	C	18	76988492	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.A354G:p.V118V;ENSG00000197971:ENST00000578873:exon5:c.A432G:p.V144V;	0.995871524909432	0.952
18	74700448	T	G	18	76988492	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.A354C:p.V118V;ENSG00000197971:ENST00000578873:exon5:c.A432C:p.V144V;	0.99985634663855	0.95
18	74700449	A	C	18	76988493	y	n	splicing	MBP(NM_001025090:exon5:c.351+2T>G;NM_001025081:exon6:c.429+2T>G;NM_001025101:exon8:c.750+2T>G)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon6:c.429+2T>G;ENST00000355994:exon8:c.750+2T>G;ENST00000397866:exon5:c.351+2T>G;ENST00000397875:exon5:c.381+2T>G;ENST00000577755:exon3:c.195+2T>G;ENST00000527975:exon5:c.199+2T>G;ENST00000531144:exon5:c.269+2T>G;ENST00000583474:exon5:c.269+2T>G;ENST00000533278:exon6:c.284+2T>G;ENST00000526111:exon6:c.285+2T>G;ENST00000580402:exon7:c.750+2T>G;ENST00000578193:exon5:c.351+2T>G;ENST00000447114:exon5:c.183+2T>G;ENST00000473302:exon5:c.424+2T>G;ENST00000483025:exon6:c.439+2T>G;ENST00000493623:exon5:c.492+2T>G)	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.T353G:p.V118G;ENSG00000197971:ENST00000578873:exon5:c.T431G:p.V144G;	0.999993519952936	0.92
18	74700449	A	G	18	76988493	y	n	splicing	MBP(NM_001025090:exon5:c.351+2T>C;NM_001025081:exon6:c.429+2T>C;NM_001025101:exon8:c.750+2T>C)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon6:c.429+2T>C;ENST00000355994:exon8:c.750+2T>C;ENST00000397866:exon5:c.351+2T>C;ENST00000397875:exon5:c.381+2T>C;ENST00000577755:exon3:c.195+2T>C;ENST00000527975:exon5:c.199+2T>C;ENST00000531144:exon5:c.269+2T>C;ENST00000583474:exon5:c.269+2T>C;ENST00000533278:exon6:c.284+2T>C;ENST00000526111:exon6:c.285+2T>C;ENST00000580402:exon7:c.750+2T>C;ENST00000578193:exon5:c.351+2T>C;ENST00000447114:exon5:c.183+2T>C;ENST00000473302:exon5:c.424+2T>C;ENST00000483025:exon6:c.439+2T>C;ENST00000493623:exon5:c.492+2T>C)	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.T353C:p.V118A;ENSG00000197971:ENST00000578873:exon5:c.T431C:p.V144A;	0.989490785358834	0.592
18	74700449	A	T	18	76988493	y	n	splicing	MBP(NM_001025090:exon5:c.351+2T>A;NM_001025081:exon6:c.429+2T>A;NM_001025101:exon8:c.750+2T>A)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon6:c.429+2T>A;ENST00000355994:exon8:c.750+2T>A;ENST00000397866:exon5:c.351+2T>A;ENST00000397875:exon5:c.381+2T>A;ENST00000577755:exon3:c.195+2T>A;ENST00000527975:exon5:c.199+2T>A;ENST00000531144:exon5:c.269+2T>A;ENST00000583474:exon5:c.269+2T>A;ENST00000533278:exon6:c.284+2T>A;ENST00000526111:exon6:c.285+2T>A;ENST00000580402:exon7:c.750+2T>A;ENST00000578193:exon5:c.351+2T>A;ENST00000447114:exon5:c.183+2T>A;ENST00000473302:exon5:c.424+2T>A;ENST00000483025:exon6:c.439+2T>A;ENST00000493623:exon5:c.492+2T>A)	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.T353A:p.V118E;ENSG00000197971:ENST00000578873:exon5:c.T431A:p.V144E;	0.999993519952936	0.928
18	74700450	C	A	18	76988494	y	n	splicing	MBP(NM_001025090:exon5:c.351+1G>T;NM_001025081:exon6:c.429+1G>T;NM_001025101:exon8:c.750+1G>T)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon6:c.429+1G>T;ENST00000355994:exon8:c.750+1G>T;ENST00000397866:exon5:c.351+1G>T;ENST00000397875:exon5:c.381+1G>T;ENST00000577755:exon3:c.195+1G>T;ENST00000527975:exon5:c.199+1G>T;ENST00000531144:exon5:c.269+1G>T;ENST00000583474:exon5:c.269+1G>T;ENST00000533278:exon6:c.284+1G>T;ENST00000526111:exon6:c.285+1G>T;ENST00000580402:exon7:c.750+1G>T;ENST00000578193:exon5:c.351+1G>T;ENST00000447114:exon5:c.183+1G>T;ENST00000473302:exon5:c.424+1G>T;ENST00000483025:exon6:c.439+1G>T;ENST00000493623:exon5:c.492+1G>T)	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G352T:p.V118L;ENSG00000197971:ENST00000578873:exon5:c.G430T:p.V144L;	0.999988247793601	0.928
18	74700450	C	G	18	76988494	y	n	splicing	MBP(NM_001025090:exon5:c.351+1G>C;NM_001025081:exon6:c.429+1G>C;NM_001025101:exon8:c.750+1G>C)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon6:c.429+1G>C;ENST00000355994:exon8:c.750+1G>C;ENST00000397866:exon5:c.351+1G>C;ENST00000397875:exon5:c.381+1G>C;ENST00000577755:exon3:c.195+1G>C;ENST00000527975:exon5:c.199+1G>C;ENST00000531144:exon5:c.269+1G>C;ENST00000583474:exon5:c.269+1G>C;ENST00000533278:exon6:c.284+1G>C;ENST00000526111:exon6:c.285+1G>C;ENST00000580402:exon7:c.750+1G>C;ENST00000578193:exon5:c.351+1G>C;ENST00000447114:exon5:c.183+1G>C;ENST00000473302:exon5:c.424+1G>C;ENST00000483025:exon6:c.439+1G>C;ENST00000493623:exon5:c.492+1G>C)	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G352C:p.V118L;ENSG00000197971:ENST00000578873:exon5:c.G430C:p.V144L;	0.999988247793601	0.916
18	74700450	C	T	18	76988494	y	n	splicing	MBP(NM_001025090:exon5:c.351+1G>A;NM_001025081:exon6:c.429+1G>A;NM_001025101:exon8:c.750+1G>A)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon6:c.429+1G>A;ENST00000355994:exon8:c.750+1G>A;ENST00000397866:exon5:c.351+1G>A;ENST00000397875:exon5:c.381+1G>A;ENST00000577755:exon3:c.195+1G>A;ENST00000527975:exon5:c.199+1G>A;ENST00000531144:exon5:c.269+1G>A;ENST00000583474:exon5:c.269+1G>A;ENST00000533278:exon6:c.284+1G>A;ENST00000526111:exon6:c.285+1G>A;ENST00000580402:exon7:c.750+1G>A;ENST00000578193:exon5:c.351+1G>A;ENST00000447114:exon5:c.183+1G>A;ENST00000473302:exon5:c.424+1G>A;ENST00000483025:exon6:c.439+1G>A;ENST00000493623:exon5:c.492+1G>A)	nonsynonymous SNV	ENSG00000197971:ENST00000397869:exon4:c.G352A:p.V118I;ENSG00000197971:ENST00000578873:exon5:c.G430A:p.V144I;	0.999988247793601	0.928
18	74700451	C	A	18	76988495	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G351T:p.W117C;MBP:NM_001025081:exon5:c.G429T:p.W143C;MBP:NM_001025101:exon7:c.G750T:p.W250C;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G429T:p.W143C;ENSG00000197971:ENST00000397869:exon4:c.G351T:p.W117C;ENSG00000197971:ENST00000397866:exon4:c.G351T:p.W117C;ENSG00000197971:ENST00000397875:exon4:c.G381T:p.W127C;ENSG00000197971:ENST00000355994:exon7:c.G750T:p.W250C;ENSG00000197971:ENST00000447114:exon4:c.G183T:p.W61C;ENSG00000197971:ENST00000580402:exon6:c.G750T:p.W250C;ENSG00000197971:ENST00000526111:exon5:c.G285T:p.W95C;ENSG00000197971:ENST00000578873:exon5:c.G429T:p.W143C;ENSG00000197971:ENST00000578193:exon4:c.G351T:p.W117C;	0.99998986901139	0.984
18	74700451	C	G	18	76988495	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G351C:p.W117C;MBP:NM_001025081:exon5:c.G429C:p.W143C;MBP:NM_001025101:exon7:c.G750C:p.W250C;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G429C:p.W143C;ENSG00000197971:ENST00000397869:exon4:c.G351C:p.W117C;ENSG00000197971:ENST00000397866:exon4:c.G351C:p.W117C;ENSG00000197971:ENST00000397875:exon4:c.G381C:p.W127C;ENSG00000197971:ENST00000355994:exon7:c.G750C:p.W250C;ENSG00000197971:ENST00000447114:exon4:c.G183C:p.W61C;ENSG00000197971:ENST00000580402:exon6:c.G750C:p.W250C;ENSG00000197971:ENST00000526111:exon5:c.G285C:p.W95C;ENSG00000197971:ENST00000578873:exon5:c.G429C:p.W143C;ENSG00000197971:ENST00000578193:exon4:c.G351C:p.W117C;	0.999986096621043	1.0
18	74700451	C	T	18	76988495	y	n	exonic	MBP	stopgain SNV	MBP:NM_001025090:exon4:c.G351A:p.W117X;MBP:NM_001025081:exon5:c.G429A:p.W143X;MBP:NM_001025101:exon7:c.G750A:p.W250X;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000382582:exon5:c.G429A:p.W143X;ENSG00000197971:ENST00000397869:exon4:c.G351A:p.W117X;ENSG00000197971:ENST00000397866:exon4:c.G351A:p.W117X;ENSG00000197971:ENST00000397875:exon4:c.G381A:p.W127X;ENSG00000197971:ENST00000355994:exon7:c.G750A:p.W250X;ENSG00000197971:ENST00000447114:exon4:c.G183A:p.W61X;ENSG00000197971:ENST00000580402:exon6:c.G750A:p.W250X;ENSG00000197971:ENST00000526111:exon5:c.G285A:p.W95X;ENSG00000197971:ENST00000578873:exon5:c.G429A:p.W143X;ENSG00000197971:ENST00000578193:exon4:c.G351A:p.W117X;	0.999982464073566	1.0
18	74700452	C	A	18	76988496	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G350T:p.W117L;MBP:NM_001025081:exon5:c.G428T:p.W143L;MBP:NM_001025101:exon7:c.G749T:p.W250L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G428T:p.W143L;ENSG00000197971:ENST00000397869:exon4:c.G350T:p.W117L;ENSG00000197971:ENST00000397866:exon4:c.G350T:p.W117L;ENSG00000197971:ENST00000397875:exon4:c.G380T:p.W127L;ENSG00000197971:ENST00000355994:exon7:c.G749T:p.W250L;ENSG00000197971:ENST00000447114:exon4:c.G182T:p.W61L;ENSG00000197971:ENST00000580402:exon6:c.G749T:p.W250L;ENSG00000197971:ENST00000526111:exon5:c.G284T:p.W95L;ENSG00000197971:ENST00000578873:exon5:c.G428T:p.W143L;ENSG00000197971:ENST00000578193:exon4:c.G350T:p.W117L;	0.934753670494055	0.728
18	74700452	C	G	18	76988496	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G350C:p.W117S;MBP:NM_001025081:exon5:c.G428C:p.W143S;MBP:NM_001025101:exon7:c.G749C:p.W250S;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G428C:p.W143S;ENSG00000197971:ENST00000397869:exon4:c.G350C:p.W117S;ENSG00000197971:ENST00000397866:exon4:c.G350C:p.W117S;ENSG00000197971:ENST00000397875:exon4:c.G380C:p.W127S;ENSG00000197971:ENST00000355994:exon7:c.G749C:p.W250S;ENSG00000197971:ENST00000447114:exon4:c.G182C:p.W61S;ENSG00000197971:ENST00000580402:exon6:c.G749C:p.W250S;ENSG00000197971:ENST00000526111:exon5:c.G284C:p.W95S;ENSG00000197971:ENST00000578873:exon5:c.G428C:p.W143S;ENSG00000197971:ENST00000578193:exon4:c.G350C:p.W117S;	0.95625599376242	0.728
18	74700452	C	T	18	76988496	y	n	exonic	MBP	stopgain SNV	MBP:NM_001025090:exon4:c.G350A:p.W117X;MBP:NM_001025081:exon5:c.G428A:p.W143X;MBP:NM_001025101:exon7:c.G749A:p.W250X;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000382582:exon5:c.G428A:p.W143X;ENSG00000197971:ENST00000397869:exon4:c.G350A:p.W117X;ENSG00000197971:ENST00000397866:exon4:c.G350A:p.W117X;ENSG00000197971:ENST00000397875:exon4:c.G380A:p.W127X;ENSG00000197971:ENST00000355994:exon7:c.G749A:p.W250X;ENSG00000197971:ENST00000447114:exon4:c.G182A:p.W61X;ENSG00000197971:ENST00000580402:exon6:c.G749A:p.W250X;ENSG00000197971:ENST00000526111:exon5:c.G284A:p.W95X;ENSG00000197971:ENST00000578873:exon5:c.G428A:p.W143X;ENSG00000197971:ENST00000578193:exon4:c.G350A:p.W117X;	0.802767690083139	0.518
18	74700453	A	C	18	76988497	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.T349G:p.W117G;MBP:NM_001025081:exon5:c.T427G:p.W143G;MBP:NM_001025101:exon7:c.T748G:p.W250G;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.T427G:p.W143G;ENSG00000197971:ENST00000397869:exon4:c.T349G:p.W117G;ENSG00000197971:ENST00000397866:exon4:c.T349G:p.W117G;ENSG00000197971:ENST00000397875:exon4:c.T379G:p.W127G;ENSG00000197971:ENST00000355994:exon7:c.T748G:p.W250G;ENSG00000197971:ENST00000447114:exon4:c.T181G:p.W61G;ENSG00000197971:ENST00000580402:exon6:c.T748G:p.W250G;ENSG00000197971:ENST00000526111:exon5:c.T283G:p.W95G;ENSG00000197971:ENST00000578873:exon5:c.T427G:p.W143G;ENSG00000197971:ENST00000578193:exon4:c.T349G:p.W117G;	0.432473615429423	0.486
18	74700453	A	G	18	76988497	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.T349C:p.W117R;MBP:NM_001025081:exon5:c.T427C:p.W143R;MBP:NM_001025101:exon7:c.T748C:p.W250R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.T427C:p.W143R;ENSG00000197971:ENST00000397869:exon4:c.T349C:p.W117R;ENSG00000197971:ENST00000397866:exon4:c.T349C:p.W117R;ENSG00000197971:ENST00000397875:exon4:c.T379C:p.W127R;ENSG00000197971:ENST00000355994:exon7:c.T748C:p.W250R;ENSG00000197971:ENST00000447114:exon4:c.T181C:p.W61R;ENSG00000197971:ENST00000580402:exon6:c.T748C:p.W250R;ENSG00000197971:ENST00000526111:exon5:c.T283C:p.W95R;ENSG00000197971:ENST00000578873:exon5:c.T427C:p.W143R;ENSG00000197971:ENST00000578193:exon4:c.T349C:p.W117R;	0.369237858866662	0.538
18	74700453	A	T	18	76988497	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.T349A:p.W117R;MBP:NM_001025081:exon5:c.T427A:p.W143R;MBP:NM_001025101:exon7:c.T748A:p.W250R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.T427A:p.W143R;ENSG00000197971:ENST00000397869:exon4:c.T349A:p.W117R;ENSG00000197971:ENST00000397866:exon4:c.T349A:p.W117R;ENSG00000197971:ENST00000397875:exon4:c.T379A:p.W127R;ENSG00000197971:ENST00000355994:exon7:c.T748A:p.W250R;ENSG00000197971:ENST00000447114:exon4:c.T181A:p.W61R;ENSG00000197971:ENST00000580402:exon6:c.T748A:p.W250R;ENSG00000197971:ENST00000526111:exon5:c.T283A:p.W95R;ENSG00000197971:ENST00000578873:exon5:c.T427A:p.W143R;ENSG00000197971:ENST00000578193:exon4:c.T349A:p.W117R;	0.580002405696775	0.66
18	74700482	C	A	18	76988526	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G320T:p.G107V;MBP:NM_001025081:exon5:c.G398T:p.G133V;MBP:NM_001025101:exon7:c.G719T:p.G240V;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G398T:p.G133V;ENSG00000197971:ENST00000397869:exon4:c.G320T:p.G107V;ENSG00000197971:ENST00000397866:exon4:c.G320T:p.G107V;ENSG00000197971:ENST00000397875:exon4:c.G350T:p.G117V;ENSG00000197971:ENST00000355994:exon7:c.G719T:p.G240V;ENSG00000197971:ENST00000447114:exon4:c.G152T:p.G51V;ENSG00000197971:ENST00000580402:exon6:c.G719T:p.G240V;ENSG00000197971:ENST00000526111:exon5:c.G254T:p.G85V;ENSG00000197971:ENST00000578873:exon5:c.G398T:p.G133V;ENSG00000197971:ENST00000578193:exon4:c.G320T:p.G107V;	0.859501499533836	0.688
18	74700482	C	G	18	76988526	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G320C:p.G107A;MBP:NM_001025081:exon5:c.G398C:p.G133A;MBP:NM_001025101:exon7:c.G719C:p.G240A;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G398C:p.G133A;ENSG00000197971:ENST00000397869:exon4:c.G320C:p.G107A;ENSG00000197971:ENST00000397866:exon4:c.G320C:p.G107A;ENSG00000197971:ENST00000397875:exon4:c.G350C:p.G117A;ENSG00000197971:ENST00000355994:exon7:c.G719C:p.G240A;ENSG00000197971:ENST00000447114:exon4:c.G152C:p.G51A;ENSG00000197971:ENST00000580402:exon6:c.G719C:p.G240A;ENSG00000197971:ENST00000526111:exon5:c.G254C:p.G85A;ENSG00000197971:ENST00000578873:exon5:c.G398C:p.G133A;ENSG00000197971:ENST00000578193:exon4:c.G320C:p.G107A;	0.817120791206642	0.708
18	74700482	C	T	18	76988526	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G320A:p.G107E;MBP:NM_001025081:exon5:c.G398A:p.G133E;MBP:NM_001025101:exon7:c.G719A:p.G240E;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G398A:p.G133E;ENSG00000197971:ENST00000397869:exon4:c.G320A:p.G107E;ENSG00000197971:ENST00000397866:exon4:c.G320A:p.G107E;ENSG00000197971:ENST00000397875:exon4:c.G350A:p.G117E;ENSG00000197971:ENST00000355994:exon7:c.G719A:p.G240E;ENSG00000197971:ENST00000447114:exon4:c.G152A:p.G51E;ENSG00000197971:ENST00000580402:exon6:c.G719A:p.G240E;ENSG00000197971:ENST00000526111:exon5:c.G254A:p.G85E;ENSG00000197971:ENST00000578873:exon5:c.G398A:p.G133E;ENSG00000197971:ENST00000578193:exon4:c.G320A:p.G107E;	0.910064641170536	0.722
18	74700483	C	A	18	76988527	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G319T:p.G107W;MBP:NM_001025081:exon5:c.G397T:p.G133W;MBP:NM_001025101:exon7:c.G718T:p.G240W;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G397T:p.G133W;ENSG00000197971:ENST00000397869:exon4:c.G319T:p.G107W;ENSG00000197971:ENST00000397866:exon4:c.G319T:p.G107W;ENSG00000197971:ENST00000397875:exon4:c.G349T:p.G117W;ENSG00000197971:ENST00000355994:exon7:c.G718T:p.G240W;ENSG00000197971:ENST00000447114:exon4:c.G151T:p.G51W;ENSG00000197971:ENST00000580402:exon6:c.G718T:p.G240W;ENSG00000197971:ENST00000526111:exon5:c.G253T:p.G85W;ENSG00000197971:ENST00000578873:exon5:c.G397T:p.G133W;ENSG00000197971:ENST00000578193:exon4:c.G319T:p.G107W;	0.999634364908316	0.954
18	74700483	C	G	18	76988527	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G319C:p.G107R;MBP:NM_001025081:exon5:c.G397C:p.G133R;MBP:NM_001025101:exon7:c.G718C:p.G240R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G397C:p.G133R;ENSG00000197971:ENST00000397869:exon4:c.G319C:p.G107R;ENSG00000197971:ENST00000397866:exon4:c.G319C:p.G107R;ENSG00000197971:ENST00000397875:exon4:c.G349C:p.G117R;ENSG00000197971:ENST00000355994:exon7:c.G718C:p.G240R;ENSG00000197971:ENST00000447114:exon4:c.G151C:p.G51R;ENSG00000197971:ENST00000580402:exon6:c.G718C:p.G240R;ENSG00000197971:ENST00000526111:exon5:c.G253C:p.G85R;ENSG00000197971:ENST00000578873:exon5:c.G397C:p.G133R;ENSG00000197971:ENST00000578193:exon4:c.G319C:p.G107R;	0.99938525997057	0.888
18	74700483	C	T	18	76988527	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025090:exon4:c.G319A:p.G107R;MBP:NM_001025081:exon5:c.G397A:p.G133R;MBP:NM_001025101:exon7:c.G718A:p.G240R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon5:c.G397A:p.G133R;ENSG00000197971:ENST00000397869:exon4:c.G319A:p.G107R;ENSG00000197971:ENST00000397866:exon4:c.G319A:p.G107R;ENSG00000197971:ENST00000397875:exon4:c.G349A:p.G117R;ENSG00000197971:ENST00000355994:exon7:c.G718A:p.G240R;ENSG00000197971:ENST00000447114:exon4:c.G151A:p.G51R;ENSG00000197971:ENST00000580402:exon6:c.G718A:p.G240R;ENSG00000197971:ENST00000526111:exon5:c.G253A:p.G85R;ENSG00000197971:ENST00000578873:exon5:c.G397A:p.G133R;ENSG00000197971:ENST00000578193:exon4:c.G319A:p.G107R;	0.999077536279057	0.836
18	74700484	C	A	18	76988528	y	y	splicing	MBP(NM_001025090:exon5:c.319-1G>T;NM_001025081:exon6:c.397-1G>T;NM_001025101:exon8:c.718-1G>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon6:c.397-1G>T;ENST00000355994:exon8:c.718-1G>T;ENST00000585201:exon4:c.105-1G>T;ENST00000397866:exon5:c.319-1G>T;ENST00000397875:exon5:c.349-1G>T;ENST00000527975:exon5:c.167-1G>T;ENST00000397869:exon5:c.319-1G>T;ENST00000531144:exon5:c.237-1G>T;ENST00000583474:exon5:c.237-1G>T;ENST00000533278:exon6:c.252-1G>T;ENST00000526111:exon6:c.253-1G>T;ENST00000580402:exon7:c.718-1G>T;ENST00000578193:exon5:c.319-1G>T;ENST00000447114:exon5:c.151-1G>T;ENST00000473302:exon5:c.392-1G>T;ENST00000483025:exon6:c.407-1G>T;ENST00000493623:exon5:c.460-1G>T;ENST00000578873:exon6:c.397-1G>T;ENST00000459948:exon5:c.483-1G>T)	.	.	0.999990764389106	0.932
18	74700484	C	G	18	76988528	y	y	splicing	MBP(NM_001025090:exon5:c.319-1G>C;NM_001025081:exon6:c.397-1G>C;NM_001025101:exon8:c.718-1G>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon6:c.397-1G>C;ENST00000355994:exon8:c.718-1G>C;ENST00000585201:exon4:c.105-1G>C;ENST00000397866:exon5:c.319-1G>C;ENST00000397875:exon5:c.349-1G>C;ENST00000527975:exon5:c.167-1G>C;ENST00000397869:exon5:c.319-1G>C;ENST00000531144:exon5:c.237-1G>C;ENST00000583474:exon5:c.237-1G>C;ENST00000533278:exon6:c.252-1G>C;ENST00000526111:exon6:c.253-1G>C;ENST00000580402:exon7:c.718-1G>C;ENST00000578193:exon5:c.319-1G>C;ENST00000447114:exon5:c.151-1G>C;ENST00000473302:exon5:c.392-1G>C;ENST00000483025:exon6:c.407-1G>C;ENST00000493623:exon5:c.460-1G>C;ENST00000578873:exon6:c.397-1G>C;ENST00000459948:exon5:c.483-1G>C)	.	.	0.999990764389106	0.932
18	74700484	C	T	18	76988528	y	y	splicing	MBP(NM_001025090:exon5:c.319-1G>A;NM_001025081:exon6:c.397-1G>A;NM_001025101:exon8:c.718-1G>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon6:c.397-1G>A;ENST00000355994:exon8:c.718-1G>A;ENST00000585201:exon4:c.105-1G>A;ENST00000397866:exon5:c.319-1G>A;ENST00000397875:exon5:c.349-1G>A;ENST00000527975:exon5:c.167-1G>A;ENST00000397869:exon5:c.319-1G>A;ENST00000531144:exon5:c.237-1G>A;ENST00000583474:exon5:c.237-1G>A;ENST00000533278:exon6:c.252-1G>A;ENST00000526111:exon6:c.253-1G>A;ENST00000580402:exon7:c.718-1G>A;ENST00000578193:exon5:c.319-1G>A;ENST00000447114:exon5:c.151-1G>A;ENST00000473302:exon5:c.392-1G>A;ENST00000483025:exon6:c.407-1G>A;ENST00000493623:exon5:c.460-1G>A;ENST00000578873:exon6:c.397-1G>A;ENST00000459948:exon5:c.483-1G>A)	.	.	0.999990764389106	0.938
18	74700485	T	A	18	76988529	y	y	splicing	MBP(NM_001025090:exon5:c.319-2A>T;NM_001025081:exon6:c.397-2A>T;NM_001025101:exon8:c.718-2A>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon6:c.397-2A>T;ENST00000355994:exon8:c.718-2A>T;ENST00000585201:exon4:c.105-2A>T;ENST00000397866:exon5:c.319-2A>T;ENST00000397875:exon5:c.349-2A>T;ENST00000527975:exon5:c.167-2A>T;ENST00000397869:exon5:c.319-2A>T;ENST00000531144:exon5:c.237-2A>T;ENST00000583474:exon5:c.237-2A>T;ENST00000533278:exon6:c.252-2A>T;ENST00000526111:exon6:c.253-2A>T;ENST00000580402:exon7:c.718-2A>T;ENST00000578193:exon5:c.319-2A>T;ENST00000447114:exon5:c.151-2A>T;ENST00000473302:exon5:c.392-2A>T;ENST00000483025:exon6:c.407-2A>T;ENST00000493623:exon5:c.460-2A>T;ENST00000578873:exon6:c.397-2A>T;ENST00000459948:exon5:c.483-2A>T)	.	.	0.999995027806847	0.928
18	74700485	T	C	18	76988529	y	y	splicing	MBP(NM_001025090:exon5:c.319-2A>G;NM_001025081:exon6:c.397-2A>G;NM_001025101:exon8:c.718-2A>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon6:c.397-2A>G;ENST00000355994:exon8:c.718-2A>G;ENST00000585201:exon4:c.105-2A>G;ENST00000397866:exon5:c.319-2A>G;ENST00000397875:exon5:c.349-2A>G;ENST00000527975:exon5:c.167-2A>G;ENST00000397869:exon5:c.319-2A>G;ENST00000531144:exon5:c.237-2A>G;ENST00000583474:exon5:c.237-2A>G;ENST00000533278:exon6:c.252-2A>G;ENST00000526111:exon6:c.253-2A>G;ENST00000580402:exon7:c.718-2A>G;ENST00000578193:exon5:c.319-2A>G;ENST00000447114:exon5:c.151-2A>G;ENST00000473302:exon5:c.392-2A>G;ENST00000483025:exon6:c.407-2A>G;ENST00000493623:exon5:c.460-2A>G;ENST00000578873:exon6:c.397-2A>G;ENST00000459948:exon5:c.483-2A>G)	.	.	0.999995027806847	0.928
18	74700485	T	G	18	76988529	y	y	splicing	MBP(NM_001025090:exon5:c.319-2A>C;NM_001025081:exon6:c.397-2A>C;NM_001025101:exon8:c.718-2A>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon6:c.397-2A>C;ENST00000355994:exon8:c.718-2A>C;ENST00000585201:exon4:c.105-2A>C;ENST00000397866:exon5:c.319-2A>C;ENST00000397875:exon5:c.349-2A>C;ENST00000527975:exon5:c.167-2A>C;ENST00000397869:exon5:c.319-2A>C;ENST00000531144:exon5:c.237-2A>C;ENST00000583474:exon5:c.237-2A>C;ENST00000533278:exon6:c.252-2A>C;ENST00000526111:exon6:c.253-2A>C;ENST00000580402:exon7:c.718-2A>C;ENST00000578193:exon5:c.319-2A>C;ENST00000447114:exon5:c.151-2A>C;ENST00000473302:exon5:c.392-2A>C;ENST00000483025:exon6:c.407-2A>C;ENST00000493623:exon5:c.460-2A>C;ENST00000578873:exon6:c.397-2A>C;ENST00000459948:exon5:c.483-2A>C)	.	.	0.999995027806847	0.928
18	74700486	G	A	18	76988530	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.126479822797577	0.18
18	74700486	G	C	18	76988530	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999913822238906	0.956
18	74700486	G	T	18	76988530	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.993743313226986	0.762
18	74700487	C	A	18	76988531	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.23306658812244E-5	0.0
18	74700487	C	G	18	76988531	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.95908496337909E-5	0.002
18	74700487	C	T	18	76988531	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.35904259254496E-5	0.0
18	74700488	A	C	18	76988532	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.994364112432813	0.828
18	74700488	A	G	18	76988532	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.49769603075468E-4	0.006
18	74700488	A	T	18	76988532	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.993377066522795	0.632
18	74700489	T	A	18	76988533	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00292563723471669	0.064
18	74700489	T	C	18	76988533	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00780244683045611	0.062
18	74700489	T	G	18	76988533	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00211986979957124	0.066
18	74700490	G	A	18	76988534	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.48826954094843E-4	0.026
18	74700490	G	C	18	76988534	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00248196944621417	0.066
18	74700490	G	T	18	76988534	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00460274559286017	0.072
18	74700491	A	C	18	76988535	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.80234910651329E-4	0.128
18	74700491	A	G	18	76988535	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.63294216415943E-5	0.002
18	74700491	A	T	18	76988535	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00211846745143155	0.194
18	74700492	G	A	18	76988536	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.482828305222539	0.55
18	74700492	G	C	18	76988536	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.865750714799778	0.508
18	74700492	G	T	18	76988536	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.844152223735747	0.52
18	74700493	G	A	18	76988537	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.38514479900039E-4	0.15
18	74700493	G	C	18	76988537	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.37261455320694E-4	0.138
18	74700493	G	T	18	76988537	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.17683307722098E-4	0.142
18	74700494	A	C	18	76988538	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.854511516154196	0.638
18	74700494	A	G	18	76988538	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.264074776518624	0.512
18	74700494	A	T	18	76988538	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.89572969361361	0.698
18	74700495	A	C	18	76988539	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.681230442866336	0.534
18	74700495	A	G	18	76988539	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0634064802868604	0.322
18	74700495	A	T	18	76988539	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.867151166559102	0.522
18	74700825	G	A	18	76988869	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.92297816354753E-5	0.0
18	74700825	G	C	18	76988869	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.92297816354753E-5	0.004
18	74700825	G	T	18	76988869	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.92297816354753E-5	0.0
18	74700826	G	A	18	76988870	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.10710114931588E-4	0.002
18	74700826	G	C	18	76988870	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.93579658256913E-5	0.004
18	74700826	G	T	18	76988870	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	8.67378569920084E-5	0.008
18	74700827	T	A	18	76988871	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.21855690505177E-5	0.01
18	74700827	T	C	18	76988871	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.99423003264586E-5	0.008
18	74700827	T	G	18	76988871	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.11301987222104E-4	0.014
18	74700828	C	A	18	76988872	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.777562723195966	0.522
18	74700828	C	G	18	76988872	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.740488589880397	0.564
18	74700828	C	T	18	76988872	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.857711299131801	0.558
18	74700829	T	A	18	76988873	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.371538192496061	0.49
18	74700829	T	C	18	76988873	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.645738990271996	0.394
18	74700829	T	G	18	76988873	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.418268609435006	0.506
18	74700830	T	A	18	76988874	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.972505166245457	0.57
18	74700830	T	C	18	76988874	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00218154198909731	0.096
18	74700830	T	G	18	76988874	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.901905942228797	0.62
18	74700831	A	C	18	76988875	y	y	splicing	MBP(NM_002385:exon5:c.396+2T>G;NM_001025090:exon4:c.318+2T>G;NM_001025092:exon4:c.318+2T>G;NM_001025081:exon5:c.396+2T>G;NM_001025101:exon7:c.717+2T>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon5:c.396+2T>G;ENST00000355994:exon7:c.717+2T>G;ENST00000585201:exon3:c.104+2T>G;ENST00000397866:exon4:c.318+2T>G;ENST00000397875:exon4:c.348+2T>G;ENST00000397865:exon4:c.318+2T>G;ENST00000359645:exon5:c.396+2T>G;ENST00000527975:exon4:c.166+2T>G;ENST00000397869:exon4:c.318+2T>G;ENST00000531144:exon4:c.236+2T>G;ENST00000583474:exon4:c.236+2T>G;ENST00000533278:exon5:c.251+2T>G;ENST00000526111:exon5:c.252+2T>G;ENST00000579129:exon7:c.717+2T>G;ENST00000580402:exon6:c.717+2T>G;ENST00000578193:exon4:c.318+2T>G;ENST00000447114:exon4:c.150+2T>G;ENST00000473302:exon4:c.391+2T>G;ENST00000483025:exon5:c.406+2T>G;ENST00000493623:exon4:c.459+2T>G;ENST00000578873:exon5:c.396+2T>G;ENST00000459948:exon4:c.482+2T>G)	.	.	0.999982151912279	0.896
18	74700831	A	G	18	76988875	y	y	splicing	MBP(NM_002385:exon5:c.396+2T>C;NM_001025090:exon4:c.318+2T>C;NM_001025092:exon4:c.318+2T>C;NM_001025081:exon5:c.396+2T>C;NM_001025101:exon7:c.717+2T>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon5:c.396+2T>C;ENST00000355994:exon7:c.717+2T>C;ENST00000585201:exon3:c.104+2T>C;ENST00000397866:exon4:c.318+2T>C;ENST00000397875:exon4:c.348+2T>C;ENST00000397865:exon4:c.318+2T>C;ENST00000359645:exon5:c.396+2T>C;ENST00000527975:exon4:c.166+2T>C;ENST00000397869:exon4:c.318+2T>C;ENST00000531144:exon4:c.236+2T>C;ENST00000583474:exon4:c.236+2T>C;ENST00000533278:exon5:c.251+2T>C;ENST00000526111:exon5:c.252+2T>C;ENST00000579129:exon7:c.717+2T>C;ENST00000580402:exon6:c.717+2T>C;ENST00000578193:exon4:c.318+2T>C;ENST00000447114:exon4:c.150+2T>C;ENST00000473302:exon4:c.391+2T>C;ENST00000483025:exon5:c.406+2T>C;ENST00000493623:exon4:c.459+2T>C;ENST00000578873:exon5:c.396+2T>C;ENST00000459948:exon4:c.482+2T>C)	.	.	0.980232990253458	0.552
18	74700831	A	T	18	76988875	y	y	splicing	MBP(NM_002385:exon5:c.396+2T>A;NM_001025090:exon4:c.318+2T>A;NM_001025092:exon4:c.318+2T>A;NM_001025081:exon5:c.396+2T>A;NM_001025101:exon7:c.717+2T>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon5:c.396+2T>A;ENST00000355994:exon7:c.717+2T>A;ENST00000585201:exon3:c.104+2T>A;ENST00000397866:exon4:c.318+2T>A;ENST00000397875:exon4:c.348+2T>A;ENST00000397865:exon4:c.318+2T>A;ENST00000359645:exon5:c.396+2T>A;ENST00000527975:exon4:c.166+2T>A;ENST00000397869:exon4:c.318+2T>A;ENST00000531144:exon4:c.236+2T>A;ENST00000583474:exon4:c.236+2T>A;ENST00000533278:exon5:c.251+2T>A;ENST00000526111:exon5:c.252+2T>A;ENST00000579129:exon7:c.717+2T>A;ENST00000580402:exon6:c.717+2T>A;ENST00000578193:exon4:c.318+2T>A;ENST00000447114:exon4:c.150+2T>A;ENST00000473302:exon4:c.391+2T>A;ENST00000483025:exon5:c.406+2T>A;ENST00000493623:exon4:c.459+2T>A;ENST00000578873:exon5:c.396+2T>A;ENST00000459948:exon4:c.482+2T>A)	.	.	0.999977928046871	0.91
18	74700832	C	A	18	76988876	y	y	splicing	MBP(NM_002385:exon5:c.396+1G>T;NM_001025090:exon4:c.318+1G>T;NM_001025092:exon4:c.318+1G>T;NM_001025081:exon5:c.396+1G>T;NM_001025101:exon7:c.717+1G>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon5:c.396+1G>T;ENST00000355994:exon7:c.717+1G>T;ENST00000585201:exon3:c.104+1G>T;ENST00000397866:exon4:c.318+1G>T;ENST00000397875:exon4:c.348+1G>T;ENST00000397865:exon4:c.318+1G>T;ENST00000359645:exon5:c.396+1G>T;ENST00000527975:exon4:c.166+1G>T;ENST00000397869:exon4:c.318+1G>T;ENST00000531144:exon4:c.236+1G>T;ENST00000583474:exon4:c.236+1G>T;ENST00000533278:exon5:c.251+1G>T;ENST00000526111:exon5:c.252+1G>T;ENST00000579129:exon7:c.717+1G>T;ENST00000580402:exon6:c.717+1G>T;ENST00000578193:exon4:c.318+1G>T;ENST00000447114:exon4:c.150+1G>T;ENST00000473302:exon4:c.391+1G>T;ENST00000483025:exon5:c.406+1G>T;ENST00000493623:exon4:c.459+1G>T;ENST00000578873:exon5:c.396+1G>T;ENST00000459948:exon4:c.482+1G>T)	.	.	0.99996748057446	0.9
18	74700832	C	G	18	76988876	y	y	splicing	MBP(NM_002385:exon5:c.396+1G>C;NM_001025090:exon4:c.318+1G>C;NM_001025092:exon4:c.318+1G>C;NM_001025081:exon5:c.396+1G>C;NM_001025101:exon7:c.717+1G>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon5:c.396+1G>C;ENST00000355994:exon7:c.717+1G>C;ENST00000585201:exon3:c.104+1G>C;ENST00000397866:exon4:c.318+1G>C;ENST00000397875:exon4:c.348+1G>C;ENST00000397865:exon4:c.318+1G>C;ENST00000359645:exon5:c.396+1G>C;ENST00000527975:exon4:c.166+1G>C;ENST00000397869:exon4:c.318+1G>C;ENST00000531144:exon4:c.236+1G>C;ENST00000583474:exon4:c.236+1G>C;ENST00000533278:exon5:c.251+1G>C;ENST00000526111:exon5:c.252+1G>C;ENST00000579129:exon7:c.717+1G>C;ENST00000580402:exon6:c.717+1G>C;ENST00000578193:exon4:c.318+1G>C;ENST00000447114:exon4:c.150+1G>C;ENST00000473302:exon4:c.391+1G>C;ENST00000483025:exon5:c.406+1G>C;ENST00000493623:exon4:c.459+1G>C;ENST00000578873:exon5:c.396+1G>C;ENST00000459948:exon4:c.482+1G>C)	.	.	0.99996748057446	0.898
18	74700832	C	T	18	76988876	y	y	splicing	MBP(NM_002385:exon5:c.396+1G>A;NM_001025090:exon4:c.318+1G>A;NM_001025092:exon4:c.318+1G>A;NM_001025081:exon5:c.396+1G>A;NM_001025101:exon7:c.717+1G>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon5:c.396+1G>A;ENST00000355994:exon7:c.717+1G>A;ENST00000585201:exon3:c.104+1G>A;ENST00000397866:exon4:c.318+1G>A;ENST00000397875:exon4:c.348+1G>A;ENST00000397865:exon4:c.318+1G>A;ENST00000359645:exon5:c.396+1G>A;ENST00000527975:exon4:c.166+1G>A;ENST00000397869:exon4:c.318+1G>A;ENST00000531144:exon4:c.236+1G>A;ENST00000583474:exon4:c.236+1G>A;ENST00000533278:exon5:c.251+1G>A;ENST00000526111:exon5:c.252+1G>A;ENST00000579129:exon7:c.717+1G>A;ENST00000580402:exon6:c.717+1G>A;ENST00000578193:exon4:c.318+1G>A;ENST00000447114:exon4:c.150+1G>A;ENST00000473302:exon4:c.391+1G>A;ENST00000483025:exon5:c.406+1G>A;ENST00000493623:exon4:c.459+1G>A;ENST00000578873:exon5:c.396+1G>A;ENST00000459948:exon4:c.482+1G>A)	.	.	0.999945530492988	0.902
18	74700833	C	A	18	76988877	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.G396T:p.K132N;MBP:NM_001025090:exon3:c.G318T:p.K106N;MBP:NM_001025081:exon4:c.G396T:p.K132N;MBP:NM_001025101:exon6:c.G717T:p.K239N;MBP:NM_001025092:exon3:c.G318T:p.K106N;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.G396T:p.K132N;ENSG00000197971:ENST00000397869:exon3:c.G318T:p.K106N;ENSG00000197971:ENST00000397866:exon3:c.G318T:p.K106N;ENSG00000197971:ENST00000397875:exon3:c.G348T:p.K116N;ENSG00000197971:ENST00000359645:exon4:c.G396T:p.K132N;ENSG00000197971:ENST00000355994:exon6:c.G717T:p.K239N;ENSG00000197971:ENST00000397865:exon3:c.G318T:p.K106N;ENSG00000197971:ENST00000579129:exon6:c.G717T:p.K239N;ENSG00000197971:ENST00000447114:exon3:c.G150T:p.K50N;ENSG00000197971:ENST00000580402:exon5:c.G717T:p.K239N;ENSG00000197971:ENST00000526111:exon4:c.G252T:p.K84N;ENSG00000197971:ENST00000578873:exon4:c.G396T:p.K132N;ENSG00000197971:ENST00000578193:exon3:c.G318T:p.K106N;	0.999316900767859	0.974
18	74700833	C	G	18	76988877	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.G396C:p.K132N;MBP:NM_001025090:exon3:c.G318C:p.K106N;MBP:NM_001025081:exon4:c.G396C:p.K132N;MBP:NM_001025101:exon6:c.G717C:p.K239N;MBP:NM_001025092:exon3:c.G318C:p.K106N;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.G396C:p.K132N;ENSG00000197971:ENST00000397869:exon3:c.G318C:p.K106N;ENSG00000197971:ENST00000397866:exon3:c.G318C:p.K106N;ENSG00000197971:ENST00000397875:exon3:c.G348C:p.K116N;ENSG00000197971:ENST00000359645:exon4:c.G396C:p.K132N;ENSG00000197971:ENST00000355994:exon6:c.G717C:p.K239N;ENSG00000197971:ENST00000397865:exon3:c.G318C:p.K106N;ENSG00000197971:ENST00000579129:exon6:c.G717C:p.K239N;ENSG00000197971:ENST00000447114:exon3:c.G150C:p.K50N;ENSG00000197971:ENST00000580402:exon5:c.G717C:p.K239N;ENSG00000197971:ENST00000526111:exon4:c.G252C:p.K84N;ENSG00000197971:ENST00000578873:exon4:c.G396C:p.K132N;ENSG00000197971:ENST00000578193:exon3:c.G318C:p.K106N;	0.999736913722098	0.944
18	74700833	C	T	18	76988877	y	y	exonic	MBP	synonymous SNV	MBP:NM_002385:exon4:c.G396A:p.K132K;MBP:NM_001025090:exon3:c.G318A:p.K106K;MBP:NM_001025081:exon4:c.G396A:p.K132K;MBP:NM_001025101:exon6:c.G717A:p.K239K;MBP:NM_001025092:exon3:c.G318A:p.K106K;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.G396A:p.K132K;ENSG00000197971:ENST00000397869:exon3:c.G318A:p.K106K;ENSG00000197971:ENST00000397866:exon3:c.G318A:p.K106K;ENSG00000197971:ENST00000397875:exon3:c.G348A:p.K116K;ENSG00000197971:ENST00000359645:exon4:c.G396A:p.K132K;ENSG00000197971:ENST00000355994:exon6:c.G717A:p.K239K;ENSG00000197971:ENST00000397865:exon3:c.G318A:p.K106K;ENSG00000197971:ENST00000579129:exon6:c.G717A:p.K239K;ENSG00000197971:ENST00000447114:exon3:c.G150A:p.K50K;ENSG00000197971:ENST00000580402:exon5:c.G717A:p.K239K;ENSG00000197971:ENST00000526111:exon4:c.G252A:p.K84K;ENSG00000197971:ENST00000578873:exon4:c.G396A:p.K132K;ENSG00000197971:ENST00000578193:exon3:c.G318A:p.K106K;	0.851145178772691	0.868
18	74700834	T	A	18	76988878	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.A395T:p.K132M;MBP:NM_001025090:exon3:c.A317T:p.K106M;MBP:NM_001025081:exon4:c.A395T:p.K132M;MBP:NM_001025101:exon6:c.A716T:p.K239M;MBP:NM_001025092:exon3:c.A317T:p.K106M;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.A395T:p.K132M;ENSG00000197971:ENST00000397869:exon3:c.A317T:p.K106M;ENSG00000197971:ENST00000397866:exon3:c.A317T:p.K106M;ENSG00000197971:ENST00000397875:exon3:c.A347T:p.K116M;ENSG00000197971:ENST00000359645:exon4:c.A395T:p.K132M;ENSG00000197971:ENST00000355994:exon6:c.A716T:p.K239M;ENSG00000197971:ENST00000397865:exon3:c.A317T:p.K106M;ENSG00000197971:ENST00000579129:exon6:c.A716T:p.K239M;ENSG00000197971:ENST00000447114:exon3:c.A149T:p.K50M;ENSG00000197971:ENST00000580402:exon5:c.A716T:p.K239M;ENSG00000197971:ENST00000526111:exon4:c.A251T:p.K84M;ENSG00000197971:ENST00000578873:exon4:c.A395T:p.K132M;ENSG00000197971:ENST00000578193:exon3:c.A317T:p.K106M;	0.974430670258171	0.684
18	74700834	T	C	18	76988878	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.A395G:p.K132R;MBP:NM_001025090:exon3:c.A317G:p.K106R;MBP:NM_001025081:exon4:c.A395G:p.K132R;MBP:NM_001025101:exon6:c.A716G:p.K239R;MBP:NM_001025092:exon3:c.A317G:p.K106R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.A395G:p.K132R;ENSG00000197971:ENST00000397869:exon3:c.A317G:p.K106R;ENSG00000197971:ENST00000397866:exon3:c.A317G:p.K106R;ENSG00000197971:ENST00000397875:exon3:c.A347G:p.K116R;ENSG00000197971:ENST00000359645:exon4:c.A395G:p.K132R;ENSG00000197971:ENST00000355994:exon6:c.A716G:p.K239R;ENSG00000197971:ENST00000397865:exon3:c.A317G:p.K106R;ENSG00000197971:ENST00000579129:exon6:c.A716G:p.K239R;ENSG00000197971:ENST00000447114:exon3:c.A149G:p.K50R;ENSG00000197971:ENST00000580402:exon5:c.A716G:p.K239R;ENSG00000197971:ENST00000526111:exon4:c.A251G:p.K84R;ENSG00000197971:ENST00000578873:exon4:c.A395G:p.K132R;ENSG00000197971:ENST00000578193:exon3:c.A317G:p.K106R;	0.978062490532555	0.9
18	74700834	T	G	18	76988878	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.A395C:p.K132T;MBP:NM_001025090:exon3:c.A317C:p.K106T;MBP:NM_001025081:exon4:c.A395C:p.K132T;MBP:NM_001025101:exon6:c.A716C:p.K239T;MBP:NM_001025092:exon3:c.A317C:p.K106T;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.A395C:p.K132T;ENSG00000197971:ENST00000397869:exon3:c.A317C:p.K106T;ENSG00000197971:ENST00000397866:exon3:c.A317C:p.K106T;ENSG00000197971:ENST00000397875:exon3:c.A347C:p.K116T;ENSG00000197971:ENST00000359645:exon4:c.A395C:p.K132T;ENSG00000197971:ENST00000355994:exon6:c.A716C:p.K239T;ENSG00000197971:ENST00000397865:exon3:c.A317C:p.K106T;ENSG00000197971:ENST00000579129:exon6:c.A716C:p.K239T;ENSG00000197971:ENST00000447114:exon3:c.A149C:p.K50T;ENSG00000197971:ENST00000580402:exon5:c.A716C:p.K239T;ENSG00000197971:ENST00000526111:exon4:c.A251C:p.K84T;ENSG00000197971:ENST00000578873:exon4:c.A395C:p.K132T;ENSG00000197971:ENST00000578193:exon3:c.A317C:p.K106T;	0.969918724528401	0.936
18	74700835	T	A	18	76988879	y	y	exonic	MBP	stopgain SNV	MBP:NM_002385:exon4:c.A394T:p.K132X;MBP:NM_001025090:exon3:c.A316T:p.K106X;MBP:NM_001025081:exon4:c.A394T:p.K132X;MBP:NM_001025101:exon6:c.A715T:p.K239X;MBP:NM_001025092:exon3:c.A316T:p.K106X;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000382582:exon4:c.A394T:p.K132X;ENSG00000197971:ENST00000397869:exon3:c.A316T:p.K106X;ENSG00000197971:ENST00000397866:exon3:c.A316T:p.K106X;ENSG00000197971:ENST00000397875:exon3:c.A346T:p.K116X;ENSG00000197971:ENST00000359645:exon4:c.A394T:p.K132X;ENSG00000197971:ENST00000355994:exon6:c.A715T:p.K239X;ENSG00000197971:ENST00000397865:exon3:c.A316T:p.K106X;ENSG00000197971:ENST00000579129:exon6:c.A715T:p.K239X;ENSG00000197971:ENST00000447114:exon3:c.A148T:p.K50X;ENSG00000197971:ENST00000580402:exon5:c.A715T:p.K239X;ENSG00000197971:ENST00000526111:exon4:c.A250T:p.K84X;ENSG00000197971:ENST00000578873:exon4:c.A394T:p.K132X;ENSG00000197971:ENST00000578193:exon3:c.A316T:p.K106X;	0.863904805645692	0.566
18	74700835	T	C	18	76988879	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.A394G:p.K132E;MBP:NM_001025090:exon3:c.A316G:p.K106E;MBP:NM_001025081:exon4:c.A394G:p.K132E;MBP:NM_001025101:exon6:c.A715G:p.K239E;MBP:NM_001025092:exon3:c.A316G:p.K106E;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.A394G:p.K132E;ENSG00000197971:ENST00000397869:exon3:c.A316G:p.K106E;ENSG00000197971:ENST00000397866:exon3:c.A316G:p.K106E;ENSG00000197971:ENST00000397875:exon3:c.A346G:p.K116E;ENSG00000197971:ENST00000359645:exon4:c.A394G:p.K132E;ENSG00000197971:ENST00000355994:exon6:c.A715G:p.K239E;ENSG00000197971:ENST00000397865:exon3:c.A316G:p.K106E;ENSG00000197971:ENST00000579129:exon6:c.A715G:p.K239E;ENSG00000197971:ENST00000447114:exon3:c.A148G:p.K50E;ENSG00000197971:ENST00000580402:exon5:c.A715G:p.K239E;ENSG00000197971:ENST00000526111:exon4:c.A250G:p.K84E;ENSG00000197971:ENST00000578873:exon4:c.A394G:p.K132E;ENSG00000197971:ENST00000578193:exon3:c.A316G:p.K106E;	0.0438150306583848	0.312
18	74700835	T	G	18	76988879	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.A394C:p.K132Q;MBP:NM_001025090:exon3:c.A316C:p.K106Q;MBP:NM_001025081:exon4:c.A394C:p.K132Q;MBP:NM_001025101:exon6:c.A715C:p.K239Q;MBP:NM_001025092:exon3:c.A316C:p.K106Q;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.A394C:p.K132Q;ENSG00000197971:ENST00000397869:exon3:c.A316C:p.K106Q;ENSG00000197971:ENST00000397866:exon3:c.A316C:p.K106Q;ENSG00000197971:ENST00000397875:exon3:c.A346C:p.K116Q;ENSG00000197971:ENST00000359645:exon4:c.A394C:p.K132Q;ENSG00000197971:ENST00000355994:exon6:c.A715C:p.K239Q;ENSG00000197971:ENST00000397865:exon3:c.A316C:p.K106Q;ENSG00000197971:ENST00000579129:exon6:c.A715C:p.K239Q;ENSG00000197971:ENST00000447114:exon3:c.A148C:p.K50Q;ENSG00000197971:ENST00000580402:exon5:c.A715C:p.K239Q;ENSG00000197971:ENST00000526111:exon4:c.A250C:p.K84Q;ENSG00000197971:ENST00000578873:exon4:c.A394C:p.K132Q;ENSG00000197971:ENST00000578193:exon3:c.A316C:p.K106Q;	0.292622204202548	0.47
18	74700867	A	C	18	76988911	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.T362G:p.V121G;MBP:NM_001025090:exon3:c.T284G:p.V95G;MBP:NM_001025081:exon4:c.T362G:p.V121G;MBP:NM_001025101:exon6:c.T683G:p.V228G;MBP:NM_001025092:exon3:c.T284G:p.V95G;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.T362G:p.V121G;ENSG00000197971:ENST00000397869:exon3:c.T284G:p.V95G;ENSG00000197971:ENST00000397866:exon3:c.T284G:p.V95G;ENSG00000197971:ENST00000397875:exon3:c.T314G:p.V105G;ENSG00000197971:ENST00000359645:exon4:c.T362G:p.V121G;ENSG00000197971:ENST00000355994:exon6:c.T683G:p.V228G;ENSG00000197971:ENST00000397865:exon3:c.T284G:p.V95G;ENSG00000197971:ENST00000579129:exon6:c.T683G:p.V228G;ENSG00000197971:ENST00000447114:exon3:c.T116G:p.V39G;ENSG00000197971:ENST00000580402:exon5:c.T683G:p.V228G;ENSG00000197971:ENST00000526111:exon4:c.T218G:p.V73G;ENSG00000197971:ENST00000578873:exon4:c.T362G:p.V121G;ENSG00000197971:ENST00000578193:exon3:c.T284G:p.V95G;	0.148563980297077	0.452
18	74700867	A	G	18	76988911	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.T362C:p.V121A;MBP:NM_001025090:exon3:c.T284C:p.V95A;MBP:NM_001025081:exon4:c.T362C:p.V121A;MBP:NM_001025101:exon6:c.T683C:p.V228A;MBP:NM_001025092:exon3:c.T284C:p.V95A;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.T362C:p.V121A;ENSG00000197971:ENST00000397869:exon3:c.T284C:p.V95A;ENSG00000197971:ENST00000397866:exon3:c.T284C:p.V95A;ENSG00000197971:ENST00000397875:exon3:c.T314C:p.V105A;ENSG00000197971:ENST00000359645:exon4:c.T362C:p.V121A;ENSG00000197971:ENST00000355994:exon6:c.T683C:p.V228A;ENSG00000197971:ENST00000397865:exon3:c.T284C:p.V95A;ENSG00000197971:ENST00000579129:exon6:c.T683C:p.V228A;ENSG00000197971:ENST00000447114:exon3:c.T116C:p.V39A;ENSG00000197971:ENST00000580402:exon5:c.T683C:p.V228A;ENSG00000197971:ENST00000526111:exon4:c.T218C:p.V73A;ENSG00000197971:ENST00000578873:exon4:c.T362C:p.V121A;ENSG00000197971:ENST00000578193:exon3:c.T284C:p.V95A;	0.117786620888481	0.484
18	74700867	A	T	18	76988911	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.T362A:p.V121E;MBP:NM_001025090:exon3:c.T284A:p.V95E;MBP:NM_001025081:exon4:c.T362A:p.V121E;MBP:NM_001025101:exon6:c.T683A:p.V228E;MBP:NM_001025092:exon3:c.T284A:p.V95E;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.T362A:p.V121E;ENSG00000197971:ENST00000397869:exon3:c.T284A:p.V95E;ENSG00000197971:ENST00000397866:exon3:c.T284A:p.V95E;ENSG00000197971:ENST00000397875:exon3:c.T314A:p.V105E;ENSG00000197971:ENST00000359645:exon4:c.T362A:p.V121E;ENSG00000197971:ENST00000355994:exon6:c.T683A:p.V228E;ENSG00000197971:ENST00000397865:exon3:c.T284A:p.V95E;ENSG00000197971:ENST00000579129:exon6:c.T683A:p.V228E;ENSG00000197971:ENST00000447114:exon3:c.T116A:p.V39E;ENSG00000197971:ENST00000580402:exon5:c.T683A:p.V228E;ENSG00000197971:ENST00000526111:exon4:c.T218A:p.V73E;ENSG00000197971:ENST00000578873:exon4:c.T362A:p.V121E;ENSG00000197971:ENST00000578193:exon3:c.T284A:p.V95E;	0.0980046916632677	0.466
18	74700868	C	A	18	76988912	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.G361T:p.V121L;MBP:NM_001025090:exon3:c.G283T:p.V95L;MBP:NM_001025081:exon4:c.G361T:p.V121L;MBP:NM_001025101:exon6:c.G682T:p.V228L;MBP:NM_001025092:exon3:c.G283T:p.V95L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.G361T:p.V121L;ENSG00000197971:ENST00000397869:exon3:c.G283T:p.V95L;ENSG00000197971:ENST00000397866:exon3:c.G283T:p.V95L;ENSG00000197971:ENST00000397875:exon3:c.G313T:p.V105L;ENSG00000197971:ENST00000359645:exon4:c.G361T:p.V121L;ENSG00000197971:ENST00000355994:exon6:c.G682T:p.V228L;ENSG00000197971:ENST00000397865:exon3:c.G283T:p.V95L;ENSG00000197971:ENST00000579129:exon6:c.G682T:p.V228L;ENSG00000197971:ENST00000447114:exon3:c.G115T:p.V39L;ENSG00000197971:ENST00000580402:exon5:c.G682T:p.V228L;ENSG00000197971:ENST00000526111:exon4:c.G217T:p.V73L;ENSG00000197971:ENST00000578873:exon4:c.G361T:p.V121L;ENSG00000197971:ENST00000578193:exon3:c.G283T:p.V95L;	0.998628935944052	0.956
18	74700868	C	G	18	76988912	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.G361C:p.V121L;MBP:NM_001025090:exon3:c.G283C:p.V95L;MBP:NM_001025081:exon4:c.G361C:p.V121L;MBP:NM_001025101:exon6:c.G682C:p.V228L;MBP:NM_001025092:exon3:c.G283C:p.V95L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.G361C:p.V121L;ENSG00000197971:ENST00000397869:exon3:c.G283C:p.V95L;ENSG00000197971:ENST00000397866:exon3:c.G283C:p.V95L;ENSG00000197971:ENST00000397875:exon3:c.G313C:p.V105L;ENSG00000197971:ENST00000359645:exon4:c.G361C:p.V121L;ENSG00000197971:ENST00000355994:exon6:c.G682C:p.V228L;ENSG00000197971:ENST00000397865:exon3:c.G283C:p.V95L;ENSG00000197971:ENST00000579129:exon6:c.G682C:p.V228L;ENSG00000197971:ENST00000447114:exon3:c.G115C:p.V39L;ENSG00000197971:ENST00000580402:exon5:c.G682C:p.V228L;ENSG00000197971:ENST00000526111:exon4:c.G217C:p.V73L;ENSG00000197971:ENST00000578873:exon4:c.G361C:p.V121L;ENSG00000197971:ENST00000578193:exon3:c.G283C:p.V95L;	0.997905484959984	0.92
18	74700868	C	T	18	76988912	y	n	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon4:c.G361A:p.V121M;MBP:NM_001025090:exon3:c.G283A:p.V95M;MBP:NM_001025081:exon4:c.G361A:p.V121M;MBP:NM_001025101:exon6:c.G682A:p.V228M;MBP:NM_001025092:exon3:c.G283A:p.V95M;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon4:c.G361A:p.V121M;ENSG00000197971:ENST00000397869:exon3:c.G283A:p.V95M;ENSG00000197971:ENST00000397866:exon3:c.G283A:p.V95M;ENSG00000197971:ENST00000397875:exon3:c.G313A:p.V105M;ENSG00000197971:ENST00000359645:exon4:c.G361A:p.V121M;ENSG00000197971:ENST00000355994:exon6:c.G682A:p.V228M;ENSG00000197971:ENST00000397865:exon3:c.G283A:p.V95M;ENSG00000197971:ENST00000579129:exon6:c.G682A:p.V228M;ENSG00000197971:ENST00000447114:exon3:c.G115A:p.V39M;ENSG00000197971:ENST00000580402:exon5:c.G682A:p.V228M;ENSG00000197971:ENST00000526111:exon4:c.G217A:p.V73M;ENSG00000197971:ENST00000578873:exon4:c.G361A:p.V121M;ENSG00000197971:ENST00000578193:exon3:c.G283A:p.V95M;	0.990983763234793	0.786
18	74700869	C	A	18	76988913	y	n	splicing	MBP(NM_002385:exon5:c.361-1G>T;NM_001025090:exon4:c.283-1G>T;NM_001025092:exon4:c.283-1G>T;NM_001025081:exon5:c.361-1G>T;NM_001025101:exon7:c.682-1G>T)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon5:c.361-1G>T;ENST00000355994:exon7:c.682-1G>T;ENST00000585201:exon3:c.69-1G>T;ENST00000397866:exon4:c.283-1G>T;ENST00000397865:exon4:c.283-1G>T;ENST00000359645:exon5:c.361-1G>T;ENST00000527975:exon4:c.131-1G>T;ENST00000397869:exon4:c.283-1G>T;ENST00000531144:exon4:c.201-1G>T;ENST00000583474:exon4:c.201-1G>T;ENST00000533278:exon5:c.216-1G>T;ENST00000526111:exon5:c.217-1G>T;ENST00000579129:exon7:c.682-1G>T;ENST00000580402:exon6:c.682-1G>T;ENST00000578193:exon4:c.283-1G>T;ENST00000447114:exon4:c.115-1G>T;ENST00000483025:exon5:c.371-1G>T;ENST00000578873:exon5:c.361-1G>T)	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G312T:p.Q104H;	0.999986675681007	0.934
18	74700869	C	G	18	76988913	y	n	splicing	MBP(NM_002385:exon5:c.361-1G>C;NM_001025090:exon4:c.283-1G>C;NM_001025092:exon4:c.283-1G>C;NM_001025081:exon5:c.361-1G>C;NM_001025101:exon7:c.682-1G>C)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon5:c.361-1G>C;ENST00000355994:exon7:c.682-1G>C;ENST00000585201:exon3:c.69-1G>C;ENST00000397866:exon4:c.283-1G>C;ENST00000397865:exon4:c.283-1G>C;ENST00000359645:exon5:c.361-1G>C;ENST00000527975:exon4:c.131-1G>C;ENST00000397869:exon4:c.283-1G>C;ENST00000531144:exon4:c.201-1G>C;ENST00000583474:exon4:c.201-1G>C;ENST00000533278:exon5:c.216-1G>C;ENST00000526111:exon5:c.217-1G>C;ENST00000579129:exon7:c.682-1G>C;ENST00000580402:exon6:c.682-1G>C;ENST00000578193:exon4:c.283-1G>C;ENST00000447114:exon4:c.115-1G>C;ENST00000483025:exon5:c.371-1G>C;ENST00000578873:exon5:c.361-1G>C)	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G312C:p.Q104H;	0.999986675681007	0.934
18	74700869	C	T	18	76988913	y	n	splicing	MBP(NM_002385:exon5:c.361-1G>A;NM_001025090:exon4:c.283-1G>A;NM_001025092:exon4:c.283-1G>A;NM_001025081:exon5:c.361-1G>A;NM_001025101:exon7:c.682-1G>A)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon5:c.361-1G>A;ENST00000355994:exon7:c.682-1G>A;ENST00000585201:exon3:c.69-1G>A;ENST00000397866:exon4:c.283-1G>A;ENST00000397865:exon4:c.283-1G>A;ENST00000359645:exon5:c.361-1G>A;ENST00000527975:exon4:c.131-1G>A;ENST00000397869:exon4:c.283-1G>A;ENST00000531144:exon4:c.201-1G>A;ENST00000583474:exon4:c.201-1G>A;ENST00000533278:exon5:c.216-1G>A;ENST00000526111:exon5:c.217-1G>A;ENST00000579129:exon7:c.682-1G>A;ENST00000580402:exon6:c.682-1G>A;ENST00000578193:exon4:c.283-1G>A;ENST00000447114:exon4:c.115-1G>A;ENST00000483025:exon5:c.371-1G>A;ENST00000578873:exon5:c.361-1G>A)	synonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G312A:p.Q104Q;	0.999986675681007	0.934
18	74700870	T	A	18	76988914	y	n	splicing	MBP(NM_002385:exon5:c.361-2A>T;NM_001025090:exon4:c.283-2A>T;NM_001025092:exon4:c.283-2A>T;NM_001025081:exon5:c.361-2A>T;NM_001025101:exon7:c.682-2A>T)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon5:c.361-2A>T;ENST00000355994:exon7:c.682-2A>T;ENST00000585201:exon3:c.69-2A>T;ENST00000397866:exon4:c.283-2A>T;ENST00000397865:exon4:c.283-2A>T;ENST00000359645:exon5:c.361-2A>T;ENST00000527975:exon4:c.131-2A>T;ENST00000397869:exon4:c.283-2A>T;ENST00000531144:exon4:c.201-2A>T;ENST00000583474:exon4:c.201-2A>T;ENST00000533278:exon5:c.216-2A>T;ENST00000526111:exon5:c.217-2A>T;ENST00000579129:exon7:c.682-2A>T;ENST00000580402:exon6:c.682-2A>T;ENST00000578193:exon4:c.283-2A>T;ENST00000447114:exon4:c.115-2A>T;ENST00000483025:exon5:c.371-2A>T;ENST00000578873:exon5:c.361-2A>T)	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.A311T:p.Q104L;	0.999990155693597	0.926
18	74700870	T	C	18	76988914	y	n	splicing	MBP(NM_002385:exon5:c.361-2A>G;NM_001025090:exon4:c.283-2A>G;NM_001025092:exon4:c.283-2A>G;NM_001025081:exon5:c.361-2A>G;NM_001025101:exon7:c.682-2A>G)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon5:c.361-2A>G;ENST00000355994:exon7:c.682-2A>G;ENST00000585201:exon3:c.69-2A>G;ENST00000397866:exon4:c.283-2A>G;ENST00000397865:exon4:c.283-2A>G;ENST00000359645:exon5:c.361-2A>G;ENST00000527975:exon4:c.131-2A>G;ENST00000397869:exon4:c.283-2A>G;ENST00000531144:exon4:c.201-2A>G;ENST00000583474:exon4:c.201-2A>G;ENST00000533278:exon5:c.216-2A>G;ENST00000526111:exon5:c.217-2A>G;ENST00000579129:exon7:c.682-2A>G;ENST00000580402:exon6:c.682-2A>G;ENST00000578193:exon4:c.283-2A>G;ENST00000447114:exon4:c.115-2A>G;ENST00000483025:exon5:c.371-2A>G;ENST00000578873:exon5:c.361-2A>G)	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.A311G:p.Q104R;	0.999990155693597	0.926
18	74700870	T	G	18	76988914	y	n	splicing	MBP(NM_002385:exon5:c.361-2A>C;NM_001025090:exon4:c.283-2A>C;NM_001025092:exon4:c.283-2A>C;NM_001025081:exon5:c.361-2A>C;NM_001025101:exon7:c.682-2A>C)	.	.	exonic;splicing	ENSG00000197971;ENSG00000197971(ENST00000382582:exon5:c.361-2A>C;ENST00000355994:exon7:c.682-2A>C;ENST00000585201:exon3:c.69-2A>C;ENST00000397866:exon4:c.283-2A>C;ENST00000397865:exon4:c.283-2A>C;ENST00000359645:exon5:c.361-2A>C;ENST00000527975:exon4:c.131-2A>C;ENST00000397869:exon4:c.283-2A>C;ENST00000531144:exon4:c.201-2A>C;ENST00000583474:exon4:c.201-2A>C;ENST00000533278:exon5:c.216-2A>C;ENST00000526111:exon5:c.217-2A>C;ENST00000579129:exon7:c.682-2A>C;ENST00000580402:exon6:c.682-2A>C;ENST00000578193:exon4:c.283-2A>C;ENST00000447114:exon4:c.115-2A>C;ENST00000483025:exon5:c.371-2A>C;ENST00000578873:exon5:c.361-2A>C)	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.A311C:p.Q104P;	0.999990155693597	0.926
18	74700871	G	A	18	76988915	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000397875:exon3:c.C310T:p.Q104X;	0.10885958627773	0.29
18	74700871	G	C	18	76988915	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.C310G:p.Q104E;	0.993633804182866	0.844
18	74700871	G	T	18	76988915	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.C310A:p.Q104K;	0.195962886589288	0.438
18	74700872	G	A	18	76988916	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.C309T:p.F103F;	1.64633558735314E-4	0.002
18	74700872	G	C	18	76988916	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.C309G:p.F103L;	6.17315593320265E-4	0.012
18	74700872	G	T	18	76988916	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.C309A:p.F103L;	0.00101712792567584	0.042
18	74700873	A	C	18	76988917	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T308G:p.F103C;	0.534229504775936	0.528
18	74700873	A	G	18	76988917	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T308C:p.F103S;	0.01304267306782	0.052
18	74700873	A	T	18	76988917	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T308A:p.F103Y;	0.960729641310071	0.588
18	74700874	A	C	18	76988918	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T307G:p.F103V;	0.985612176278372	0.74
18	74700874	A	G	18	76988918	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T307C:p.F103L;	0.261852542468811	0.478
18	74700874	A	T	18	76988918	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T307A:p.F103I;	0.962711876581393	0.664
18	74700875	A	C	18	76988919	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T306G:p.S102S;	0.0615599623705969	0.286
18	74700875	A	G	18	76988919	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T306C:p.S102S;	1.30977636777235E-4	0.006
18	74700875	A	T	18	76988919	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T306A:p.S102S;	0.408193550810292	0.566
18	74700876	G	A	18	76988920	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.C305T:p.S102F;	5.2328747612553E-4	0.034
18	74700876	G	C	18	76988920	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.C305G:p.S102C;	0.022789987251984	0.278
18	74700876	G	T	18	76988920	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.C305A:p.S102Y;	0.00660710923693084	0.16
18	74700877	A	C	18	76988921	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T304G:p.S102A;	0.00227177547472139	0.128
18	74700877	A	G	18	76988921	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T304C:p.S102P;	4.77558574708864E-4	0.014
18	74700877	A	T	18	76988921	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T304A:p.S102T;	0.00895608943398752	0.11
18	74700878	C	A	18	76988922	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G303T:p.V101V;	1.59906191292158E-4	0.0
18	74700878	C	G	18	76988922	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G303C:p.V101V;	1.41253860248884E-4	0.0
18	74700878	C	T	18	76988922	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G303A:p.V101V;	0.00118328157188483	0.022
18	74700879	A	C	18	76988923	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T302G:p.V101G;	0.719471630637352	0.546
18	74700879	A	G	18	76988923	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T302C:p.V101A;	0.2027832638081	0.204
18	74700879	A	T	18	76988923	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T302A:p.V101E;	0.999817794555023	0.928
18	74700880	C	A	18	76988924	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G301T:p.V101L;	1.36339057147124E-4	0.0
18	74700880	C	G	18	76988924	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G301C:p.V101L;	7.77956766704271E-5	0.0
18	74700880	C	T	18	76988924	y	n	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G301A:p.V101M;	4.82096328594955E-4	0.04
18	74700897	C	A	18	76988941	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G284T:p.C95F;	1.3598437825176E-4	0.072
18	74700897	C	G	18	76988941	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G284C:p.C95S;	9.29976107982117E-5	0.034
18	74700897	C	T	18	76988941	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.G284A:p.C95Y;	9.29976107982117E-5	0.038
18	74700898	A	C	18	76988942	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T283G:p.C95G;	1.14902156710097E-4	0.004
18	74700898	A	G	18	76988942	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T283C:p.C95R;	1.26221367910918E-4	0.004
18	74700898	A	T	18	76988942	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397875:exon3:c.T283A:p.C95S;	1.06018817306734E-4	0.004
18	74700899	C	A	18	76988943	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000397875:exon4:c.283-1G>T)	.	.	8.44167692826415E-5	0.006
18	74700899	C	G	18	76988943	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000397875:exon4:c.283-1G>C)	.	.	5.87347500193166E-5	0.006
18	74700899	C	T	18	76988943	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000397875:exon4:c.283-1G>A)	.	.	8.44167692826415E-5	0.006
18	74700900	T	A	18	76988944	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000397875:exon4:c.283-2A>T)	.	.	2.11441602355052E-5	0.008
18	74700900	T	C	18	76988944	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000397875:exon4:c.283-2A>G)	.	.	3.83488359282596E-5	0.082
18	74700900	T	G	18	76988944	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000397875:exon4:c.283-2A>C)	.	.	3.83488359282596E-5	0.082
18	74700901	G	A	18	76988945	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.5364181533214E-5	0.0
18	74700901	G	C	18	76988945	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.5364181533214E-5	0.0
18	74700901	G	T	18	76988945	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.5364181533214E-5	0.0
18	74700902	G	A	18	76988946	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.01163773767764E-5	0.004
18	74700902	G	C	18	76988946	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.86431456331734E-5	0.004
18	74700902	G	T	18	76988946	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.86431456331734E-5	0.004
18	74700903	G	A	18	76988947	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.52881759733747E-5	0.0
18	74700903	G	C	18	76988947	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.52881759733747E-5	0.004
18	74700903	G	T	18	76988947	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.52881759733747E-5	0.0
18	74700904	A	C	18	76988948	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.70337218186484E-5	0.002
18	74700904	A	G	18	76988948	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.70337218186484E-5	0.002
18	74700904	A	T	18	76988948	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.70337218186484E-5	0.002
18	74700905	G	A	18	76988949	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.23990001900786E-4	0.0
18	74700905	G	C	18	76988949	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.86359644168464E-5	0.0
18	74700905	G	T	18	76988949	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.23990001900786E-4	0.002
18	74700906	C	A	18	76988950	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.97864243205666E-5	0.0
18	74700906	C	G	18	76988950	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.97864243205666E-5	0.0
18	74700906	C	T	18	76988950	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.37205498882069E-5	0.0
18	74700907	C	A	18	76988951	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.5364181533214E-5	0.0
18	74700907	C	G	18	76988951	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.5364181533214E-5	0.0
18	74700907	C	T	18	76988951	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	7.5364181533214E-5	0.002
18	74700908	C	A	18	76988952	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.88563338073588E-5	0.002
18	74700908	C	G	18	76988952	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.68952365742707E-5	0.002
18	74700908	C	T	18	76988952	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.88563338073588E-5	0.002
18	74700909	T	A	18	76988953	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.90066968634554E-5	0.048
18	74700909	T	C	18	76988953	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.21606438854009E-5	0.046
18	74700909	T	G	18	76988953	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.21606438854009E-5	0.046
18	74700910	G	A	18	76988954	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.1275425710174E-5	0.0
18	74700910	G	C	18	76988954	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.1275425710174E-5	0.0
18	74700910	G	T	18	76988954	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.1275425710174E-5	0.0
18	74700940	G	A	18	76988984	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000473302:exon3:c.C284T:p.A95V;	1.40940918270023E-4	0.0
18	74700940	G	C	18	76988984	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000473302:exon3:c.C284G:p.A95G;	8.30945796578933E-5	0.0
18	74700940	G	T	18	76988984	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000473302:exon3:c.C284A:p.A95E;	8.30945796578933E-5	0.0
18	74700941	C	A	18	76988985	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000473302:exon3:c.G283T:p.A95S;	5.54086838358931E-5	0.0
18	74700941	C	G	18	76988985	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000473302:exon3:c.G283C:p.A95P;	5.02031288334007E-5	0.0
18	74700941	C	T	18	76988985	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000473302:exon3:c.G283A:p.A95T;	5.54086838358931E-5	0.0
18	74700942	C	A	18	76988986	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000473302:exon4:c.283-1G>T)	.	.	2.15131662635767E-5	0.002
18	74700942	C	G	18	76988986	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000473302:exon4:c.283-1G>C)	.	.	2.05094422354251E-5	0.004
18	74700942	C	T	18	76988986	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000473302:exon4:c.283-1G>A)	.	.	2.15131662635767E-5	0.0
18	74700943	T	A	18	76988987	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000473302:exon4:c.283-2A>T)	.	.	2.13503796622452E-5	0.0
18	74700943	T	C	18	76988987	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000473302:exon4:c.283-2A>G)	.	.	2.13503796622452E-5	0.0
18	74700943	T	G	18	76988987	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000473302:exon4:c.283-2A>C)	.	.	2.13503796622452E-5	0.0
18	74700944	G	A	18	76988988	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.95241758590049E-5	0.002
18	74700944	G	C	18	76988988	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.95241758590049E-5	0.002
18	74700944	G	T	18	76988988	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.95241758590049E-5	0.002
18	74700945	C	A	18	76988989	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.68952365742707E-5	0.006
18	74700945	C	G	18	76988989	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.68952365742707E-5	0.01
18	74700945	C	T	18	76988989	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.68952365742707E-5	0.006
18	74700946	T	A	18	76988990	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.552751562108E-5	0.006
18	74700946	T	C	18	76988990	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.552751562108E-5	0.004
18	74700946	T	G	18	76988990	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	6.552751562108E-5	0.004
18	74700947	G	A	18	76988991	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.77382407657072E-5	0.0
18	74700947	G	C	18	76988991	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.49745092444763E-5	0.0
18	74700947	G	T	18	76988991	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.49745092444763E-5	0.0
18	74700948	A	C	18	76988992	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.80465223468383E-5	0.004
18	74700948	A	G	18	76988992	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.80465223468383E-5	0.004
18	74700948	A	T	18	76988992	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.10529984002121E-5	0.004
18	74700949	G	A	18	76988993	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.05089878083976E-4	0.006
18	74700949	G	C	18	76988993	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.05606112543448E-5	0.0
18	74700949	G	T	18	76988993	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.05606112543448E-5	0.004
18	74700950	G	A	18	76988994	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.11657407965104E-4	0.004
18	74700950	G	C	18	76988994	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.37205498882069E-5	0.0
18	74700950	G	T	18	76988994	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.11657407965104E-4	0.004
18	74700951	G	A	18	76988995	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.88563338073588E-5	0.002
18	74700951	G	C	18	76988995	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.88563338073588E-5	0.002
18	74700951	G	T	18	76988995	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	3.88563338073588E-5	0.002
18	74700952	T	A	18	76988996	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.20590404879984E-5	0.0
18	74700952	T	C	18	76988996	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.20590404879984E-5	0.0
18	74700952	T	G	18	76988996	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.20590404879984E-5	0.0
18	74700953	G	A	18	76988997	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.82827935381688E-5	0.002
18	74700953	G	C	18	76988997	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.82827935381688E-5	0.002
18	74700953	G	T	18	76988997	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.82827935381688E-5	0.002
18	74701031	A	C	18	76989075	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon3:c.T284G:p.V95G;	6.25580661932895E-5	0.004
18	74701031	A	G	18	76989075	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon3:c.T284C:p.V95A;	6.25580661932895E-5	0.006
18	74701031	A	T	18	76989075	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon3:c.T284A:p.V95D;	6.25580661932895E-5	0.008
18	74701032	C	A	18	76989076	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon3:c.G283T:p.V95F;	9.27237026149931E-5	0.0
18	74701032	C	G	18	76989076	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon3:c.G283C:p.V95L;	1.02337758398172E-4	0.0
18	74701032	C	T	18	76989076	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon3:c.G283A:p.V95I;	1.02337758398172E-4	0.0
18	74701033	C	A	18	76989077	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000459948:exon4:c.283-1G>T)	.	.	7.24182447672544E-5	0.012
18	74701033	C	G	18	76989077	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000459948:exon4:c.283-1G>C)	.	.	7.24182447672544E-5	0.01
18	74701033	C	T	18	76989077	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000459948:exon4:c.283-1G>A)	.	.	7.24182447672544E-5	0.008
18	74701034	T	A	18	76989078	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000459948:exon4:c.283-2A>T)	.	.	4.02784891650442E-5	0.02
18	74701034	T	C	18	76989078	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000459948:exon4:c.283-2A>G)	.	.	4.02784891650442E-5	0.006
18	74701034	T	G	18	76989078	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000459948:exon4:c.283-2A>C)	.	.	4.02784891650442E-5	0.006
18	74701035	G	A	18	76989079	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	8.13951347297017E-5	0.034
18	74701035	G	C	18	76989079	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	8.13951347297017E-5	0.0
18	74701035	G	T	18	76989079	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	8.13951347297017E-5	0.002
18	74701036	A	C	18	76989080	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.78684081159298E-5	0.006
18	74701036	A	G	18	76989080	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.78684081159298E-5	0.006
18	74701036	A	T	18	76989080	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.78684081159298E-5	0.002
18	74701037	G	A	18	76989081	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74701037	G	C	18	76989081	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74701037	G	T	18	76989081	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74701038	A	C	18	76989082	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.45277156108894E-5	0.0
18	74701038	A	G	18	76989082	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.45277156108894E-5	0.0
18	74701038	A	T	18	76989082	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.78864525412067E-5	0.0
18	74701039	T	A	18	76989083	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.97864243205666E-5	0.004
18	74701039	T	C	18	76989083	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.22319008290309E-5	0.0
18	74701039	T	G	18	76989083	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.22319008290309E-5	0.0
18	74701040	T	A	18	76989084	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.78684081159298E-5	0.004
18	74701040	T	C	18	76989084	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.73406751144135E-5	0.002
18	74701040	T	G	18	76989084	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.73406751144135E-5	0.002
18	74701041	G	A	18	76989085	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.13798544938766E-5	0.04
18	74701041	G	C	18	76989085	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.13798544938766E-5	0.042
18	74701041	G	T	18	76989085	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.13798544938766E-5	0.04
18	74701042	A	C	18	76989086	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.42005417025298E-5	0.002
18	74701042	A	G	18	76989086	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.42005417025298E-5	0.002
18	74701042	A	T	18	76989086	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.42005417025298E-5	0.002
18	74701043	A	C	18	76989087	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.47039489069415E-5	0.0
18	74701043	A	G	18	76989087	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.14301101535901E-5	0.0
18	74701043	A	T	18	76989087	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.491141643164E-5	0.006
18	74701044	A	C	18	76989088	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.78684081159298E-5	0.002
18	74701044	A	G	18	76989088	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.78684081159298E-5	0.002
18	74701044	A	T	18	76989088	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.78684081159298E-5	0.002
18	74701904	T	A	18	76989948	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.06135990822758E-5	0.0
18	74701904	T	C	18	76989948	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.70968804012754E-5	0.0
18	74701904	T	G	18	76989948	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.06135990822758E-5	0.0
18	74701905	C	A	18	76989949	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.29581952502623E-4	0.022
18	74701905	C	G	18	76989949	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.4720228130805E-5	0.034
18	74701905	C	T	18	76989949	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.38716589764513E-4	0.016
18	74701906	A	C	18	76989950	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.99104473607813	0.946
18	74701906	A	G	18	76989950	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.990612134623108	0.826
18	74701906	A	T	18	76989950	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.992209656249961	0.786
18	74701907	C	A	18	76989951	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999981442408276	0.998
18	74701907	C	G	18	76989951	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999981607686862	0.934
18	74701907	C	T	18	76989951	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999981023438699	1.0
18	74701908	T	A	18	76989952	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.997929123782759	0.934
18	74701908	T	C	18	76989952	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.998616605406273	0.934
18	74701908	T	G	18	76989952	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.998649649527881	0.884
18	74701909	T	A	18	76989953	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999527869991173	0.794
18	74701909	T	C	18	76989953	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00127487214216065	0.2
18	74701909	T	G	18	76989953	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999464781798204	0.774
18	74701910	A	C	18	76989954	y	y	splicing	MBP(NM_002385:exon4:c.360+2T>G;NM_001025090:exon3:c.282+2T>G;NM_001025092:exon3:c.282+2T>G;NM_001025081:exon4:c.360+2T>G;NM_001025101:exon6:c.681+2T>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.360+2T>G;ENST00000355994:exon6:c.681+2T>G;ENST00000585201:exon2:c.68+2T>G;ENST00000397866:exon3:c.282+2T>G;ENST00000397875:exon3:c.282+2T>G;ENST00000397865:exon3:c.282+2T>G;ENST00000359645:exon4:c.360+2T>G;ENST00000527975:exon3:c.130+2T>G;ENST00000397869:exon3:c.282+2T>G;ENST00000531144:exon3:c.200+2T>G;ENST00000583474:exon3:c.200+2T>G;ENST00000533278:exon4:c.215+2T>G;ENST00000526111:exon4:c.216+2T>G;ENST00000579129:exon6:c.681+2T>G;ENST00000580402:exon5:c.681+2T>G;ENST00000578193:exon3:c.282+2T>G;ENST00000447114:exon3:c.114+2T>G;ENST00000473302:exon3:c.282+2T>G;ENST00000483025:exon4:c.370+2T>G;ENST00000493623:exon3:c.282+2T>G;ENST00000578873:exon4:c.360+2T>G;ENST00000459948:exon3:c.282+2T>G)	.	.	0.999978791067592	0.92
18	74701910	A	G	18	76989954	y	y	splicing	MBP(NM_002385:exon4:c.360+2T>C;NM_001025090:exon3:c.282+2T>C;NM_001025092:exon3:c.282+2T>C;NM_001025081:exon4:c.360+2T>C;NM_001025101:exon6:c.681+2T>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.360+2T>C;ENST00000355994:exon6:c.681+2T>C;ENST00000585201:exon2:c.68+2T>C;ENST00000397866:exon3:c.282+2T>C;ENST00000397875:exon3:c.282+2T>C;ENST00000397865:exon3:c.282+2T>C;ENST00000359645:exon4:c.360+2T>C;ENST00000527975:exon3:c.130+2T>C;ENST00000397869:exon3:c.282+2T>C;ENST00000531144:exon3:c.200+2T>C;ENST00000583474:exon3:c.200+2T>C;ENST00000533278:exon4:c.215+2T>C;ENST00000526111:exon4:c.216+2T>C;ENST00000579129:exon6:c.681+2T>C;ENST00000580402:exon5:c.681+2T>C;ENST00000578193:exon3:c.282+2T>C;ENST00000447114:exon3:c.114+2T>C;ENST00000473302:exon3:c.282+2T>C;ENST00000483025:exon4:c.370+2T>C;ENST00000493623:exon3:c.282+2T>C;ENST00000578873:exon4:c.360+2T>C;ENST00000459948:exon3:c.282+2T>C)	.	.	0.98317218275015	0.614
18	74701910	A	T	18	76989954	y	y	splicing	MBP(NM_002385:exon4:c.360+2T>A;NM_001025090:exon3:c.282+2T>A;NM_001025092:exon3:c.282+2T>A;NM_001025081:exon4:c.360+2T>A;NM_001025101:exon6:c.681+2T>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.360+2T>A;ENST00000355994:exon6:c.681+2T>A;ENST00000585201:exon2:c.68+2T>A;ENST00000397866:exon3:c.282+2T>A;ENST00000397875:exon3:c.282+2T>A;ENST00000397865:exon3:c.282+2T>A;ENST00000359645:exon4:c.360+2T>A;ENST00000527975:exon3:c.130+2T>A;ENST00000397869:exon3:c.282+2T>A;ENST00000531144:exon3:c.200+2T>A;ENST00000583474:exon3:c.200+2T>A;ENST00000533278:exon4:c.215+2T>A;ENST00000526111:exon4:c.216+2T>A;ENST00000579129:exon6:c.681+2T>A;ENST00000580402:exon5:c.681+2T>A;ENST00000578193:exon3:c.282+2T>A;ENST00000447114:exon3:c.114+2T>A;ENST00000473302:exon3:c.282+2T>A;ENST00000483025:exon4:c.370+2T>A;ENST00000493623:exon3:c.282+2T>A;ENST00000578873:exon4:c.360+2T>A;ENST00000459948:exon3:c.282+2T>A)	.	.	0.999988543612127	0.926
18	74701911	C	A	18	76989955	y	y	splicing	MBP(NM_002385:exon4:c.360+1G>T;NM_001025090:exon3:c.282+1G>T;NM_001025092:exon3:c.282+1G>T;NM_001025081:exon4:c.360+1G>T;NM_001025101:exon6:c.681+1G>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.360+1G>T;ENST00000355994:exon6:c.681+1G>T;ENST00000585201:exon2:c.68+1G>T;ENST00000397866:exon3:c.282+1G>T;ENST00000397875:exon3:c.282+1G>T;ENST00000397865:exon3:c.282+1G>T;ENST00000359645:exon4:c.360+1G>T;ENST00000527975:exon3:c.130+1G>T;ENST00000397869:exon3:c.282+1G>T;ENST00000531144:exon3:c.200+1G>T;ENST00000583474:exon3:c.200+1G>T;ENST00000533278:exon4:c.215+1G>T;ENST00000526111:exon4:c.216+1G>T;ENST00000579129:exon6:c.681+1G>T;ENST00000580402:exon5:c.681+1G>T;ENST00000578193:exon3:c.282+1G>T;ENST00000447114:exon3:c.114+1G>T;ENST00000473302:exon3:c.282+1G>T;ENST00000483025:exon4:c.370+1G>T;ENST00000493623:exon3:c.282+1G>T;ENST00000578873:exon4:c.360+1G>T;ENST00000459948:exon3:c.282+1G>T)	.	.	0.99994568797423	0.926
18	74701911	C	G	18	76989955	y	y	splicing	MBP(NM_002385:exon4:c.360+1G>C;NM_001025090:exon3:c.282+1G>C;NM_001025092:exon3:c.282+1G>C;NM_001025081:exon4:c.360+1G>C;NM_001025101:exon6:c.681+1G>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.360+1G>C;ENST00000355994:exon6:c.681+1G>C;ENST00000585201:exon2:c.68+1G>C;ENST00000397866:exon3:c.282+1G>C;ENST00000397875:exon3:c.282+1G>C;ENST00000397865:exon3:c.282+1G>C;ENST00000359645:exon4:c.360+1G>C;ENST00000527975:exon3:c.130+1G>C;ENST00000397869:exon3:c.282+1G>C;ENST00000531144:exon3:c.200+1G>C;ENST00000583474:exon3:c.200+1G>C;ENST00000533278:exon4:c.215+1G>C;ENST00000526111:exon4:c.216+1G>C;ENST00000579129:exon6:c.681+1G>C;ENST00000580402:exon5:c.681+1G>C;ENST00000578193:exon3:c.282+1G>C;ENST00000447114:exon3:c.114+1G>C;ENST00000473302:exon3:c.282+1G>C;ENST00000483025:exon4:c.370+1G>C;ENST00000493623:exon3:c.282+1G>C;ENST00000578873:exon4:c.360+1G>C;ENST00000459948:exon3:c.282+1G>C)	.	.	0.99994568797423	0.93
18	74701911	C	T	18	76989955	y	y	splicing	MBP(NM_002385:exon4:c.360+1G>A;NM_001025090:exon3:c.282+1G>A;NM_001025092:exon3:c.282+1G>A;NM_001025081:exon4:c.360+1G>A;NM_001025101:exon6:c.681+1G>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.360+1G>A;ENST00000355994:exon6:c.681+1G>A;ENST00000585201:exon2:c.68+1G>A;ENST00000397866:exon3:c.282+1G>A;ENST00000397875:exon3:c.282+1G>A;ENST00000397865:exon3:c.282+1G>A;ENST00000359645:exon4:c.360+1G>A;ENST00000527975:exon3:c.130+1G>A;ENST00000397869:exon3:c.282+1G>A;ENST00000531144:exon3:c.200+1G>A;ENST00000583474:exon3:c.200+1G>A;ENST00000533278:exon4:c.215+1G>A;ENST00000526111:exon4:c.216+1G>A;ENST00000579129:exon6:c.681+1G>A;ENST00000580402:exon5:c.681+1G>A;ENST00000578193:exon3:c.282+1G>A;ENST00000447114:exon3:c.114+1G>A;ENST00000473302:exon3:c.282+1G>A;ENST00000483025:exon4:c.370+1G>A;ENST00000493623:exon3:c.282+1G>A;ENST00000578873:exon4:c.360+1G>A;ENST00000459948:exon3:c.282+1G>A)	.	.	0.999970661931818	0.926
18	74701912	A	C	18	76989956	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.T360G:p.I120M;MBP:NM_001025090:exon2:c.T282G:p.I94M;MBP:NM_001025081:exon3:c.T360G:p.I120M;MBP:NM_001025101:exon5:c.T681G:p.I227M;MBP:NM_001025092:exon2:c.T282G:p.I94M;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.T282G:p.I94M;ENSG00000197971:ENST00000382582:exon3:c.T360G:p.I120M;ENSG00000197971:ENST00000397869:exon2:c.T282G:p.I94M;ENSG00000197971:ENST00000397866:exon2:c.T282G:p.I94M;ENSG00000197971:ENST00000397875:exon2:c.T282G:p.I94M;ENSG00000197971:ENST00000473302:exon2:c.T282G:p.I94M;ENSG00000197971:ENST00000359645:exon3:c.T360G:p.I120M;ENSG00000197971:ENST00000355994:exon5:c.T681G:p.I227M;ENSG00000197971:ENST00000397865:exon2:c.T282G:p.I94M;ENSG00000197971:ENST00000579129:exon5:c.T681G:p.I227M;ENSG00000197971:ENST00000447114:exon2:c.T114G:p.I38M;ENSG00000197971:ENST00000580402:exon4:c.T681G:p.I227M;ENSG00000197971:ENST00000526111:exon3:c.T216G:p.I72M;ENSG00000197971:ENST00000578873:exon3:c.T360G:p.I120M;ENSG00000197971:ENST00000578193:exon2:c.T282G:p.I94M;ENSG00000197971:ENST00000493623:exon2:c.T282G:p.I94M;	5.05384336466366E-6	0.114
18	74701912	A	G	18	76989956	y	y	exonic	MBP	synonymous SNV	MBP:NM_002385:exon3:c.T360C:p.I120I;MBP:NM_001025090:exon2:c.T282C:p.I94I;MBP:NM_001025081:exon3:c.T360C:p.I120I;MBP:NM_001025101:exon5:c.T681C:p.I227I;MBP:NM_001025092:exon2:c.T282C:p.I94I;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.T282C:p.I94I;ENSG00000197971:ENST00000382582:exon3:c.T360C:p.I120I;ENSG00000197971:ENST00000397869:exon2:c.T282C:p.I94I;ENSG00000197971:ENST00000397866:exon2:c.T282C:p.I94I;ENSG00000197971:ENST00000397875:exon2:c.T282C:p.I94I;ENSG00000197971:ENST00000473302:exon2:c.T282C:p.I94I;ENSG00000197971:ENST00000359645:exon3:c.T360C:p.I120I;ENSG00000197971:ENST00000355994:exon5:c.T681C:p.I227I;ENSG00000197971:ENST00000397865:exon2:c.T282C:p.I94I;ENSG00000197971:ENST00000579129:exon5:c.T681C:p.I227I;ENSG00000197971:ENST00000447114:exon2:c.T114C:p.I38I;ENSG00000197971:ENST00000580402:exon4:c.T681C:p.I227I;ENSG00000197971:ENST00000526111:exon3:c.T216C:p.I72I;ENSG00000197971:ENST00000578873:exon3:c.T360C:p.I120I;ENSG00000197971:ENST00000578193:exon2:c.T282C:p.I94I;ENSG00000197971:ENST00000493623:exon2:c.T282C:p.I94I;	3.98556539464487E-5	0.038
18	74701912	A	T	18	76989956	y	y	exonic	MBP	synonymous SNV	MBP:NM_002385:exon3:c.T360A:p.I120I;MBP:NM_001025090:exon2:c.T282A:p.I94I;MBP:NM_001025081:exon3:c.T360A:p.I120I;MBP:NM_001025101:exon5:c.T681A:p.I227I;MBP:NM_001025092:exon2:c.T282A:p.I94I;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.T282A:p.I94I;ENSG00000197971:ENST00000382582:exon3:c.T360A:p.I120I;ENSG00000197971:ENST00000397869:exon2:c.T282A:p.I94I;ENSG00000197971:ENST00000397866:exon2:c.T282A:p.I94I;ENSG00000197971:ENST00000397875:exon2:c.T282A:p.I94I;ENSG00000197971:ENST00000473302:exon2:c.T282A:p.I94I;ENSG00000197971:ENST00000359645:exon3:c.T360A:p.I120I;ENSG00000197971:ENST00000355994:exon5:c.T681A:p.I227I;ENSG00000197971:ENST00000397865:exon2:c.T282A:p.I94I;ENSG00000197971:ENST00000579129:exon5:c.T681A:p.I227I;ENSG00000197971:ENST00000447114:exon2:c.T114A:p.I38I;ENSG00000197971:ENST00000580402:exon4:c.T681A:p.I227I;ENSG00000197971:ENST00000526111:exon3:c.T216A:p.I72I;ENSG00000197971:ENST00000578873:exon3:c.T360A:p.I120I;ENSG00000197971:ENST00000578193:exon2:c.T282A:p.I94I;ENSG00000197971:ENST00000493623:exon2:c.T282A:p.I94I;	1.56703576020728E-5	0.014
18	74701913	A	C	18	76989957	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.T359G:p.I120S;MBP:NM_001025090:exon2:c.T281G:p.I94S;MBP:NM_001025081:exon3:c.T359G:p.I120S;MBP:NM_001025101:exon5:c.T680G:p.I227S;MBP:NM_001025092:exon2:c.T281G:p.I94S;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.T281G:p.I94S;ENSG00000197971:ENST00000382582:exon3:c.T359G:p.I120S;ENSG00000197971:ENST00000397869:exon2:c.T281G:p.I94S;ENSG00000197971:ENST00000397866:exon2:c.T281G:p.I94S;ENSG00000197971:ENST00000397875:exon2:c.T281G:p.I94S;ENSG00000197971:ENST00000473302:exon2:c.T281G:p.I94S;ENSG00000197971:ENST00000359645:exon3:c.T359G:p.I120S;ENSG00000197971:ENST00000355994:exon5:c.T680G:p.I227S;ENSG00000197971:ENST00000397865:exon2:c.T281G:p.I94S;ENSG00000197971:ENST00000579129:exon5:c.T680G:p.I227S;ENSG00000197971:ENST00000447114:exon2:c.T113G:p.I38S;ENSG00000197971:ENST00000580402:exon4:c.T680G:p.I227S;ENSG00000197971:ENST00000526111:exon3:c.T215G:p.I72S;ENSG00000197971:ENST00000578873:exon3:c.T359G:p.I120S;ENSG00000197971:ENST00000578193:exon2:c.T281G:p.I94S;ENSG00000197971:ENST00000493623:exon2:c.T281G:p.I94S;	0.914840665492988	0.81
18	74701913	A	G	18	76989957	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.T359C:p.I120T;MBP:NM_001025090:exon2:c.T281C:p.I94T;MBP:NM_001025081:exon3:c.T359C:p.I120T;MBP:NM_001025101:exon5:c.T680C:p.I227T;MBP:NM_001025092:exon2:c.T281C:p.I94T;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.T281C:p.I94T;ENSG00000197971:ENST00000382582:exon3:c.T359C:p.I120T;ENSG00000197971:ENST00000397869:exon2:c.T281C:p.I94T;ENSG00000197971:ENST00000397866:exon2:c.T281C:p.I94T;ENSG00000197971:ENST00000397875:exon2:c.T281C:p.I94T;ENSG00000197971:ENST00000473302:exon2:c.T281C:p.I94T;ENSG00000197971:ENST00000359645:exon3:c.T359C:p.I120T;ENSG00000197971:ENST00000355994:exon5:c.T680C:p.I227T;ENSG00000197971:ENST00000397865:exon2:c.T281C:p.I94T;ENSG00000197971:ENST00000579129:exon5:c.T680C:p.I227T;ENSG00000197971:ENST00000447114:exon2:c.T113C:p.I38T;ENSG00000197971:ENST00000580402:exon4:c.T680C:p.I227T;ENSG00000197971:ENST00000526111:exon3:c.T215C:p.I72T;ENSG00000197971:ENST00000578873:exon3:c.T359C:p.I120T;ENSG00000197971:ENST00000578193:exon2:c.T281C:p.I94T;ENSG00000197971:ENST00000493623:exon2:c.T281C:p.I94T;	0.313402164254291	0.562
18	74701913	A	T	18	76989957	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.T359A:p.I120N;MBP:NM_001025090:exon2:c.T281A:p.I94N;MBP:NM_001025081:exon3:c.T359A:p.I120N;MBP:NM_001025101:exon5:c.T680A:p.I227N;MBP:NM_001025092:exon2:c.T281A:p.I94N;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.T281A:p.I94N;ENSG00000197971:ENST00000382582:exon3:c.T359A:p.I120N;ENSG00000197971:ENST00000397869:exon2:c.T281A:p.I94N;ENSG00000197971:ENST00000397866:exon2:c.T281A:p.I94N;ENSG00000197971:ENST00000397875:exon2:c.T281A:p.I94N;ENSG00000197971:ENST00000473302:exon2:c.T281A:p.I94N;ENSG00000197971:ENST00000359645:exon3:c.T359A:p.I120N;ENSG00000197971:ENST00000355994:exon5:c.T680A:p.I227N;ENSG00000197971:ENST00000397865:exon2:c.T281A:p.I94N;ENSG00000197971:ENST00000579129:exon5:c.T680A:p.I227N;ENSG00000197971:ENST00000447114:exon2:c.T113A:p.I38N;ENSG00000197971:ENST00000580402:exon4:c.T680A:p.I227N;ENSG00000197971:ENST00000526111:exon3:c.T215A:p.I72N;ENSG00000197971:ENST00000578873:exon3:c.T359A:p.I120N;ENSG00000197971:ENST00000578193:exon2:c.T281A:p.I94N;ENSG00000197971:ENST00000493623:exon2:c.T281A:p.I94N;	0.0672813314515714	0.334
18	74701914	T	A	18	76989958	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.A358T:p.I120F;MBP:NM_001025090:exon2:c.A280T:p.I94F;MBP:NM_001025081:exon3:c.A358T:p.I120F;MBP:NM_001025101:exon5:c.A679T:p.I227F;MBP:NM_001025092:exon2:c.A280T:p.I94F;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.A280T:p.I94F;ENSG00000197971:ENST00000382582:exon3:c.A358T:p.I120F;ENSG00000197971:ENST00000397869:exon2:c.A280T:p.I94F;ENSG00000197971:ENST00000397866:exon2:c.A280T:p.I94F;ENSG00000197971:ENST00000397875:exon2:c.A280T:p.I94F;ENSG00000197971:ENST00000473302:exon2:c.A280T:p.I94F;ENSG00000197971:ENST00000359645:exon3:c.A358T:p.I120F;ENSG00000197971:ENST00000355994:exon5:c.A679T:p.I227F;ENSG00000197971:ENST00000397865:exon2:c.A280T:p.I94F;ENSG00000197971:ENST00000579129:exon5:c.A679T:p.I227F;ENSG00000197971:ENST00000447114:exon2:c.A112T:p.I38F;ENSG00000197971:ENST00000580402:exon4:c.A679T:p.I227F;ENSG00000197971:ENST00000526111:exon3:c.A214T:p.I72F;ENSG00000197971:ENST00000578873:exon3:c.A358T:p.I120F;ENSG00000197971:ENST00000578193:exon2:c.A280T:p.I94F;ENSG00000197971:ENST00000493623:exon2:c.A280T:p.I94F;	0.0473971399674392	0.346
18	74701914	T	C	18	76989958	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.A358G:p.I120V;MBP:NM_001025090:exon2:c.A280G:p.I94V;MBP:NM_001025081:exon3:c.A358G:p.I120V;MBP:NM_001025101:exon5:c.A679G:p.I227V;MBP:NM_001025092:exon2:c.A280G:p.I94V;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.A280G:p.I94V;ENSG00000197971:ENST00000382582:exon3:c.A358G:p.I120V;ENSG00000197971:ENST00000397869:exon2:c.A280G:p.I94V;ENSG00000197971:ENST00000397866:exon2:c.A280G:p.I94V;ENSG00000197971:ENST00000397875:exon2:c.A280G:p.I94V;ENSG00000197971:ENST00000473302:exon2:c.A280G:p.I94V;ENSG00000197971:ENST00000359645:exon3:c.A358G:p.I120V;ENSG00000197971:ENST00000355994:exon5:c.A679G:p.I227V;ENSG00000197971:ENST00000397865:exon2:c.A280G:p.I94V;ENSG00000197971:ENST00000579129:exon5:c.A679G:p.I227V;ENSG00000197971:ENST00000447114:exon2:c.A112G:p.I38V;ENSG00000197971:ENST00000580402:exon4:c.A679G:p.I227V;ENSG00000197971:ENST00000526111:exon3:c.A214G:p.I72V;ENSG00000197971:ENST00000578873:exon3:c.A358G:p.I120V;ENSG00000197971:ENST00000578193:exon2:c.A280G:p.I94V;ENSG00000197971:ENST00000493623:exon2:c.A280G:p.I94V;	0.00140304968830662	0.026
18	74701914	T	G	18	76989958	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.A358C:p.I120L;MBP:NM_001025090:exon2:c.A280C:p.I94L;MBP:NM_001025081:exon3:c.A358C:p.I120L;MBP:NM_001025101:exon5:c.A679C:p.I227L;MBP:NM_001025092:exon2:c.A280C:p.I94L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.A280C:p.I94L;ENSG00000197971:ENST00000382582:exon3:c.A358C:p.I120L;ENSG00000197971:ENST00000397869:exon2:c.A280C:p.I94L;ENSG00000197971:ENST00000397866:exon2:c.A280C:p.I94L;ENSG00000197971:ENST00000397875:exon2:c.A280C:p.I94L;ENSG00000197971:ENST00000473302:exon2:c.A280C:p.I94L;ENSG00000197971:ENST00000359645:exon3:c.A358C:p.I120L;ENSG00000197971:ENST00000355994:exon5:c.A679C:p.I227L;ENSG00000197971:ENST00000397865:exon2:c.A280C:p.I94L;ENSG00000197971:ENST00000579129:exon5:c.A679C:p.I227L;ENSG00000197971:ENST00000447114:exon2:c.A112C:p.I38L;ENSG00000197971:ENST00000580402:exon4:c.A679C:p.I227L;ENSG00000197971:ENST00000526111:exon3:c.A214C:p.I72L;ENSG00000197971:ENST00000578873:exon3:c.A358C:p.I120L;ENSG00000197971:ENST00000578193:exon2:c.A280C:p.I94L;ENSG00000197971:ENST00000493623:exon2:c.A280C:p.I94L;	0.00482501912835024	0.084
18	74702015	T	A	18	76990059	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.A257T:p.D86V;MBP:NM_001025090:exon2:c.A179T:p.D60V;MBP:NM_001025081:exon3:c.A257T:p.D86V;MBP:NM_001025101:exon5:c.A578T:p.D193V;MBP:NM_001025092:exon2:c.A179T:p.D60V;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.A179T:p.D60V;ENSG00000197971:ENST00000382582:exon3:c.A257T:p.D86V;ENSG00000197971:ENST00000397869:exon2:c.A179T:p.D60V;ENSG00000197971:ENST00000527041:exon2:c.A179T:p.D60V;ENSG00000197971:ENST00000397866:exon2:c.A179T:p.D60V;ENSG00000197971:ENST00000397875:exon2:c.A179T:p.D60V;ENSG00000197971:ENST00000473302:exon2:c.A179T:p.D60V;ENSG00000197971:ENST00000531144:exon2:c.A97T:p.T33S;ENSG00000197971:ENST00000359645:exon3:c.A257T:p.D86V;ENSG00000197971:ENST00000355994:exon5:c.A578T:p.D193V;ENSG00000197971:ENST00000397865:exon2:c.A179T:p.D60V;ENSG00000197971:ENST00000498683:exon3:c.A179T:p.D60V;ENSG00000197971:ENST00000579129:exon5:c.A578T:p.D193V;ENSG00000197971:ENST00000447114:exon2:c.A11T:p.D4V;ENSG00000197971:ENST00000533278:exon3:c.A112T:p.T38S;ENSG00000197971:ENST00000580402:exon4:c.A578T:p.D193V;ENSG00000197971:ENST00000583474:exon2:c.A97T:p.T33S;ENSG00000197971:ENST00000526111:exon3:c.A113T:p.D38V;ENSG00000197971:ENST00000578873:exon3:c.A257T:p.D86V;ENSG00000197971:ENST00000578193:exon2:c.A179T:p.D60V;ENSG00000197971:ENST00000493623:exon2:c.A179T:p.D60V;	0.715417690301201	0.718
18	74702015	T	C	18	76990059	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.A257G:p.D86G;MBP:NM_001025090:exon2:c.A179G:p.D60G;MBP:NM_001025081:exon3:c.A257G:p.D86G;MBP:NM_001025101:exon5:c.A578G:p.D193G;MBP:NM_001025092:exon2:c.A179G:p.D60G;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.A179G:p.D60G;ENSG00000197971:ENST00000382582:exon3:c.A257G:p.D86G;ENSG00000197971:ENST00000397869:exon2:c.A179G:p.D60G;ENSG00000197971:ENST00000527041:exon2:c.A179G:p.D60G;ENSG00000197971:ENST00000397866:exon2:c.A179G:p.D60G;ENSG00000197971:ENST00000397875:exon2:c.A179G:p.D60G;ENSG00000197971:ENST00000473302:exon2:c.A179G:p.D60G;ENSG00000197971:ENST00000531144:exon2:c.A97G:p.T33A;ENSG00000197971:ENST00000359645:exon3:c.A257G:p.D86G;ENSG00000197971:ENST00000355994:exon5:c.A578G:p.D193G;ENSG00000197971:ENST00000397865:exon2:c.A179G:p.D60G;ENSG00000197971:ENST00000498683:exon3:c.A179G:p.D60G;ENSG00000197971:ENST00000579129:exon5:c.A578G:p.D193G;ENSG00000197971:ENST00000447114:exon2:c.A11G:p.D4G;ENSG00000197971:ENST00000533278:exon3:c.A112G:p.T38A;ENSG00000197971:ENST00000580402:exon4:c.A578G:p.D193G;ENSG00000197971:ENST00000583474:exon2:c.A97G:p.T33A;ENSG00000197971:ENST00000526111:exon3:c.A113G:p.D38G;ENSG00000197971:ENST00000578873:exon3:c.A257G:p.D86G;ENSG00000197971:ENST00000578193:exon2:c.A179G:p.D60G;ENSG00000197971:ENST00000493623:exon2:c.A179G:p.D60G;	0.653198110985698	0.526
18	74702015	T	G	18	76990059	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.A257C:p.D86A;MBP:NM_001025090:exon2:c.A179C:p.D60A;MBP:NM_001025081:exon3:c.A257C:p.D86A;MBP:NM_001025101:exon5:c.A578C:p.D193A;MBP:NM_001025092:exon2:c.A179C:p.D60A;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.A179C:p.D60A;ENSG00000197971:ENST00000382582:exon3:c.A257C:p.D86A;ENSG00000197971:ENST00000397869:exon2:c.A179C:p.D60A;ENSG00000197971:ENST00000527041:exon2:c.A179C:p.D60A;ENSG00000197971:ENST00000397866:exon2:c.A179C:p.D60A;ENSG00000197971:ENST00000397875:exon2:c.A179C:p.D60A;ENSG00000197971:ENST00000473302:exon2:c.A179C:p.D60A;ENSG00000197971:ENST00000531144:exon2:c.A97C:p.T33P;ENSG00000197971:ENST00000359645:exon3:c.A257C:p.D86A;ENSG00000197971:ENST00000355994:exon5:c.A578C:p.D193A;ENSG00000197971:ENST00000397865:exon2:c.A179C:p.D60A;ENSG00000197971:ENST00000498683:exon3:c.A179C:p.D60A;ENSG00000197971:ENST00000579129:exon5:c.A578C:p.D193A;ENSG00000197971:ENST00000447114:exon2:c.A11C:p.D4A;ENSG00000197971:ENST00000533278:exon3:c.A112C:p.T38P;ENSG00000197971:ENST00000580402:exon4:c.A578C:p.D193A;ENSG00000197971:ENST00000583474:exon2:c.A97C:p.T33P;ENSG00000197971:ENST00000526111:exon3:c.A113C:p.D38A;ENSG00000197971:ENST00000578873:exon3:c.A257C:p.D86A;ENSG00000197971:ENST00000578193:exon2:c.A179C:p.D60A;ENSG00000197971:ENST00000493623:exon2:c.A179C:p.D60A;	0.416820485715166	0.566
18	74702016	C	A	18	76990060	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.G256T:p.D86Y;MBP:NM_001025090:exon2:c.G178T:p.D60Y;MBP:NM_001025081:exon3:c.G256T:p.D86Y;MBP:NM_001025101:exon5:c.G577T:p.D193Y;MBP:NM_001025092:exon2:c.G178T:p.D60Y;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.G178T:p.D60Y;ENSG00000197971:ENST00000382582:exon3:c.G256T:p.D86Y;ENSG00000197971:ENST00000397869:exon2:c.G178T:p.D60Y;ENSG00000197971:ENST00000527041:exon2:c.G178T:p.D60Y;ENSG00000197971:ENST00000397866:exon2:c.G178T:p.D60Y;ENSG00000197971:ENST00000397875:exon2:c.G178T:p.D60Y;ENSG00000197971:ENST00000473302:exon2:c.G178T:p.D60Y;ENSG00000197971:ENST00000531144:exon2:c.G96T:p.R32S;ENSG00000197971:ENST00000359645:exon3:c.G256T:p.D86Y;ENSG00000197971:ENST00000355994:exon5:c.G577T:p.D193Y;ENSG00000197971:ENST00000397865:exon2:c.G178T:p.D60Y;ENSG00000197971:ENST00000498683:exon3:c.G178T:p.D60Y;ENSG00000197971:ENST00000579129:exon5:c.G577T:p.D193Y;ENSG00000197971:ENST00000447114:exon2:c.G10T:p.D4Y;ENSG00000197971:ENST00000533278:exon3:c.G111T:p.R37S;ENSG00000197971:ENST00000580402:exon4:c.G577T:p.D193Y;ENSG00000197971:ENST00000583474:exon2:c.G96T:p.R32S;ENSG00000197971:ENST00000526111:exon3:c.G112T:p.D38Y;ENSG00000197971:ENST00000578873:exon3:c.G256T:p.D86Y;ENSG00000197971:ENST00000578193:exon2:c.G178T:p.D60Y;ENSG00000197971:ENST00000493623:exon2:c.G178T:p.D60Y;	0.999667835229758	0.998
18	74702016	C	G	18	76990060	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.G256C:p.D86H;MBP:NM_001025090:exon2:c.G178C:p.D60H;MBP:NM_001025081:exon3:c.G256C:p.D86H;MBP:NM_001025101:exon5:c.G577C:p.D193H;MBP:NM_001025092:exon2:c.G178C:p.D60H;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.G178C:p.D60H;ENSG00000197971:ENST00000382582:exon3:c.G256C:p.D86H;ENSG00000197971:ENST00000397869:exon2:c.G178C:p.D60H;ENSG00000197971:ENST00000527041:exon2:c.G178C:p.D60H;ENSG00000197971:ENST00000397866:exon2:c.G178C:p.D60H;ENSG00000197971:ENST00000397875:exon2:c.G178C:p.D60H;ENSG00000197971:ENST00000473302:exon2:c.G178C:p.D60H;ENSG00000197971:ENST00000531144:exon2:c.G96C:p.R32S;ENSG00000197971:ENST00000359645:exon3:c.G256C:p.D86H;ENSG00000197971:ENST00000355994:exon5:c.G577C:p.D193H;ENSG00000197971:ENST00000397865:exon2:c.G178C:p.D60H;ENSG00000197971:ENST00000498683:exon3:c.G178C:p.D60H;ENSG00000197971:ENST00000579129:exon5:c.G577C:p.D193H;ENSG00000197971:ENST00000447114:exon2:c.G10C:p.D4H;ENSG00000197971:ENST00000533278:exon3:c.G111C:p.R37S;ENSG00000197971:ENST00000580402:exon4:c.G577C:p.D193H;ENSG00000197971:ENST00000583474:exon2:c.G96C:p.R32S;ENSG00000197971:ENST00000526111:exon3:c.G112C:p.D38H;ENSG00000197971:ENST00000578873:exon3:c.G256C:p.D86H;ENSG00000197971:ENST00000578193:exon2:c.G178C:p.D60H;ENSG00000197971:ENST00000493623:exon2:c.G178C:p.D60H;	0.999604968825393	0.984
18	74702016	C	T	18	76990060	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon3:c.G256A:p.D86N;MBP:NM_001025090:exon2:c.G178A:p.D60N;MBP:NM_001025081:exon3:c.G256A:p.D86N;MBP:NM_001025101:exon5:c.G577A:p.D193N;MBP:NM_001025092:exon2:c.G178A:p.D60N;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000459948:exon2:c.G178A:p.D60N;ENSG00000197971:ENST00000382582:exon3:c.G256A:p.D86N;ENSG00000197971:ENST00000397869:exon2:c.G178A:p.D60N;ENSG00000197971:ENST00000527041:exon2:c.G178A:p.D60N;ENSG00000197971:ENST00000397866:exon2:c.G178A:p.D60N;ENSG00000197971:ENST00000397875:exon2:c.G178A:p.D60N;ENSG00000197971:ENST00000473302:exon2:c.G178A:p.D60N;ENSG00000197971:ENST00000359645:exon3:c.G256A:p.D86N;ENSG00000197971:ENST00000355994:exon5:c.G577A:p.D193N;ENSG00000197971:ENST00000397865:exon2:c.G178A:p.D60N;ENSG00000197971:ENST00000498683:exon3:c.G178A:p.D60N;ENSG00000197971:ENST00000579129:exon5:c.G577A:p.D193N;ENSG00000197971:ENST00000447114:exon2:c.G10A:p.D4N;ENSG00000197971:ENST00000580402:exon4:c.G577A:p.D193N;ENSG00000197971:ENST00000526111:exon3:c.G112A:p.D38N;ENSG00000197971:ENST00000578873:exon3:c.G256A:p.D86N;ENSG00000197971:ENST00000578193:exon2:c.G178A:p.D60N;ENSG00000197971:ENST00000493623:exon2:c.G178A:p.D60N;	0.998485217931482	0.92
18	74702017	C	A	18	76990061	y	y	splicing	MBP(NM_002385:exon4:c.256-1G>T;NM_001025090:exon3:c.178-1G>T;NM_001025092:exon3:c.178-1G>T;NM_001025081:exon4:c.256-1G>T;NM_001025101:exon6:c.577-1G>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.256-1G>T;ENST00000355994:exon6:c.577-1G>T;ENST00000397866:exon3:c.178-1G>T;ENST00000397875:exon3:c.178-1G>T;ENST00000397865:exon3:c.178-1G>T;ENST00000527041:exon3:c.178-1G>T;ENST00000359645:exon4:c.256-1G>T;ENST00000397869:exon3:c.178-1G>T;ENST00000531144:exon3:c.96-1G>T;ENST00000583474:exon3:c.96-1G>T;ENST00000533278:exon4:c.111-1G>T;ENST00000526111:exon4:c.112-1G>T;ENST00000579129:exon6:c.577-1G>T;ENST00000580402:exon5:c.577-1G>T;ENST00000578193:exon3:c.178-1G>T;ENST00000447114:exon3:c.10-1G>T;ENST00000473302:exon3:c.178-1G>T;ENST00000483025:exon4:c.266-1G>T;ENST00000493623:exon3:c.178-1G>T;ENST00000578873:exon4:c.256-1G>T;ENST00000459948:exon3:c.178-1G>T;ENST00000498683:exon4:c.178-1G>T)	.	.	0.999976137096505	0.938
18	74702017	C	G	18	76990061	y	y	splicing	MBP(NM_002385:exon4:c.256-1G>C;NM_001025090:exon3:c.178-1G>C;NM_001025092:exon3:c.178-1G>C;NM_001025081:exon4:c.256-1G>C;NM_001025101:exon6:c.577-1G>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.256-1G>C;ENST00000355994:exon6:c.577-1G>C;ENST00000397866:exon3:c.178-1G>C;ENST00000397875:exon3:c.178-1G>C;ENST00000397865:exon3:c.178-1G>C;ENST00000527041:exon3:c.178-1G>C;ENST00000359645:exon4:c.256-1G>C;ENST00000397869:exon3:c.178-1G>C;ENST00000531144:exon3:c.96-1G>C;ENST00000583474:exon3:c.96-1G>C;ENST00000533278:exon4:c.111-1G>C;ENST00000526111:exon4:c.112-1G>C;ENST00000579129:exon6:c.577-1G>C;ENST00000580402:exon5:c.577-1G>C;ENST00000578193:exon3:c.178-1G>C;ENST00000447114:exon3:c.10-1G>C;ENST00000473302:exon3:c.178-1G>C;ENST00000483025:exon4:c.266-1G>C;ENST00000493623:exon3:c.178-1G>C;ENST00000578873:exon4:c.256-1G>C;ENST00000459948:exon3:c.178-1G>C;ENST00000498683:exon4:c.178-1G>C)	.	.	0.999976137096505	0.936
18	74702017	C	T	18	76990061	y	y	splicing	MBP(NM_002385:exon4:c.256-1G>A;NM_001025090:exon3:c.178-1G>A;NM_001025092:exon3:c.178-1G>A;NM_001025081:exon4:c.256-1G>A;NM_001025101:exon6:c.577-1G>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.256-1G>A;ENST00000355994:exon6:c.577-1G>A;ENST00000397866:exon3:c.178-1G>A;ENST00000397875:exon3:c.178-1G>A;ENST00000397865:exon3:c.178-1G>A;ENST00000527041:exon3:c.178-1G>A;ENST00000359645:exon4:c.256-1G>A;ENST00000397869:exon3:c.178-1G>A;ENST00000531144:exon3:c.96-1G>A;ENST00000583474:exon3:c.96-1G>A;ENST00000533278:exon4:c.111-1G>A;ENST00000526111:exon4:c.112-1G>A;ENST00000579129:exon6:c.577-1G>A;ENST00000580402:exon5:c.577-1G>A;ENST00000578193:exon3:c.178-1G>A;ENST00000447114:exon3:c.10-1G>A;ENST00000473302:exon3:c.178-1G>A;ENST00000483025:exon4:c.266-1G>A;ENST00000493623:exon3:c.178-1G>A;ENST00000578873:exon4:c.256-1G>A;ENST00000459948:exon3:c.178-1G>A;ENST00000498683:exon4:c.178-1G>A)	.	.	0.999976137096505	0.938
18	74702018	T	A	18	76990062	y	y	splicing	MBP(NM_002385:exon4:c.256-2A>T;NM_001025090:exon3:c.178-2A>T;NM_001025092:exon3:c.178-2A>T;NM_001025081:exon4:c.256-2A>T;NM_001025101:exon6:c.577-2A>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.256-2A>T;ENST00000355994:exon6:c.577-2A>T;ENST00000397866:exon3:c.178-2A>T;ENST00000397875:exon3:c.178-2A>T;ENST00000397865:exon3:c.178-2A>T;ENST00000527041:exon3:c.178-2A>T;ENST00000359645:exon4:c.256-2A>T;ENST00000397869:exon3:c.178-2A>T;ENST00000531144:exon3:c.96-2A>T;ENST00000583474:exon3:c.96-2A>T;ENST00000533278:exon4:c.111-2A>T;ENST00000526111:exon4:c.112-2A>T;ENST00000579129:exon6:c.577-2A>T;ENST00000580402:exon5:c.577-2A>T;ENST00000578193:exon3:c.178-2A>T;ENST00000447114:exon3:c.10-2A>T;ENST00000473302:exon3:c.178-2A>T;ENST00000483025:exon4:c.266-2A>T;ENST00000493623:exon3:c.178-2A>T;ENST00000578873:exon4:c.256-2A>T;ENST00000459948:exon3:c.178-2A>T;ENST00000498683:exon4:c.178-2A>T)	.	.	0.999986903042585	0.926
18	74702018	T	C	18	76990062	y	y	splicing	MBP(NM_002385:exon4:c.256-2A>G;NM_001025090:exon3:c.178-2A>G;NM_001025092:exon3:c.178-2A>G;NM_001025081:exon4:c.256-2A>G;NM_001025101:exon6:c.577-2A>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.256-2A>G;ENST00000355994:exon6:c.577-2A>G;ENST00000397866:exon3:c.178-2A>G;ENST00000397875:exon3:c.178-2A>G;ENST00000397865:exon3:c.178-2A>G;ENST00000527041:exon3:c.178-2A>G;ENST00000359645:exon4:c.256-2A>G;ENST00000397869:exon3:c.178-2A>G;ENST00000531144:exon3:c.96-2A>G;ENST00000583474:exon3:c.96-2A>G;ENST00000533278:exon4:c.111-2A>G;ENST00000526111:exon4:c.112-2A>G;ENST00000579129:exon6:c.577-2A>G;ENST00000580402:exon5:c.577-2A>G;ENST00000578193:exon3:c.178-2A>G;ENST00000447114:exon3:c.10-2A>G;ENST00000473302:exon3:c.178-2A>G;ENST00000483025:exon4:c.266-2A>G;ENST00000493623:exon3:c.178-2A>G;ENST00000578873:exon4:c.256-2A>G;ENST00000459948:exon3:c.178-2A>G;ENST00000498683:exon4:c.178-2A>G)	.	.	0.999986903042585	0.924
18	74702018	T	G	18	76990062	y	y	splicing	MBP(NM_002385:exon4:c.256-2A>C;NM_001025090:exon3:c.178-2A>C;NM_001025092:exon3:c.178-2A>C;NM_001025081:exon4:c.256-2A>C;NM_001025101:exon6:c.577-2A>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon4:c.256-2A>C;ENST00000355994:exon6:c.577-2A>C;ENST00000397866:exon3:c.178-2A>C;ENST00000397875:exon3:c.178-2A>C;ENST00000397865:exon3:c.178-2A>C;ENST00000527041:exon3:c.178-2A>C;ENST00000359645:exon4:c.256-2A>C;ENST00000397869:exon3:c.178-2A>C;ENST00000531144:exon3:c.96-2A>C;ENST00000583474:exon3:c.96-2A>C;ENST00000533278:exon4:c.111-2A>C;ENST00000526111:exon4:c.112-2A>C;ENST00000579129:exon6:c.577-2A>C;ENST00000580402:exon5:c.577-2A>C;ENST00000578193:exon3:c.178-2A>C;ENST00000447114:exon3:c.10-2A>C;ENST00000473302:exon3:c.178-2A>C;ENST00000483025:exon4:c.266-2A>C;ENST00000493623:exon3:c.178-2A>C;ENST00000578873:exon4:c.256-2A>C;ENST00000459948:exon3:c.178-2A>C;ENST00000498683:exon4:c.178-2A>C)	.	.	0.999986903042585	0.924
18	74702019	G	A	18	76990063	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.304154612261522	0.198
18	74702019	G	C	18	76990063	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999734473813818	0.938
18	74702019	G	T	18	76990063	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.995254541533758	0.814
18	74702020	A	C	18	76990064	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.42357247645823E-4	0.012
18	74702020	A	G	18	76990064	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.79294234228195E-4	0.004
18	74702020	A	T	18	76990064	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.02031381144273E-5	0.034
18	74702021	A	C	18	76990065	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.969366546541184	0.772
18	74702021	A	G	18	76990065	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0123752412582038	0.128
18	74702021	A	T	18	76990065	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.961763360814892	0.766
18	74702022	A	C	18	76990066	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.987977494105526	0.856
18	74702022	A	G	18	76990066	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00227421319558313	0.178
18	74702022	A	T	18	76990066	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.973465515274058	0.852
18	74702023	C	A	18	76990067	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.59015469737643E-5	0.002
18	74702023	C	G	18	76990067	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.3847716268344E-5	0.002
18	74702023	C	T	18	76990067	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.68155086306263E-4	0.01
18	74702024	A	C	18	76990068	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0736669970906001	0.374
18	74702024	A	G	18	76990068	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00127855853848647	0.03
18	74702024	A	T	18	76990068	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.99967309084628	0.97
18	74702025	C	A	18	76990069	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00178100447476855	0.038
18	74702025	C	G	18	76990069	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0025651420276074	0.046
18	74702025	C	T	18	76990069	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00380604785626449	0.066
18	74702026	A	C	18	76990070	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.994064154289644	0.856
18	74702026	A	G	18	76990070	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0511688580096949	0.324
18	74702026	A	T	18	76990070	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999979197293292	0.956
18	74702027	G	A	18	76990071	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.80492279362009E-4	0.098
18	74702027	G	C	18	76990071	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0122527194972301	0.132
18	74702027	G	T	18	76990071	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0813244559882919	0.202
18	74702028	A	C	18	76990072	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.11970566049241	0.466
18	74702028	A	G	18	76990072	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.86582767090558E-4	0.006
18	74702028	A	T	18	76990072	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.17569078835363	0.496
18	74702775	A	C	18	76990819	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.46619449921589E-5	0.0
18	74702775	A	G	18	76990819	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.46619449921589E-5	0.0
18	74702775	A	T	18	76990819	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.46619449921589E-5	0.0
18	74702776	G	A	18	76990820	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.77346097862455E-4	0.108
18	74702776	G	C	18	76990820	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.77346097862455E-4	0.054
18	74702776	G	T	18	76990820	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.77346097862455E-4	0.07
18	74702777	A	C	18	76990821	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.14301101535901E-5	0.002
18	74702777	A	G	18	76990821	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.14301101535901E-5	0.002
18	74702777	A	T	18	76990821	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.14301101535901E-5	0.0
18	74702778	C	A	18	76990822	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.38183787611534E-5	0.002
18	74702778	C	G	18	76990822	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.38183787611534E-5	0.0
18	74702778	C	T	18	76990822	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.65361214020652E-5	0.006
18	74702779	A	C	18	76990823	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.57607375837078E-5	0.008
18	74702779	A	G	18	76990823	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.57607375837078E-5	0.008
18	74702779	A	T	18	76990823	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.42206730061288E-5	0.0
18	74702780	C	A	18	76990824	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.41215694109E-6	0.0
18	74702780	C	G	18	76990824	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.41215694109E-6	0.0
18	74702780	C	T	18	76990824	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.01559384236425E-5	0.0
18	74702781	A	C	18	76990825	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.265+2T>G)	.	.	1.0086839819578E-5	0.022
18	74702781	A	G	18	76990825	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.265+2T>C)	.	.	1.0086839819578E-5	0.014
18	74702781	A	T	18	76990825	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.265+2T>A)	.	.	1.55806431362126E-5	0.002
18	74702782	C	A	18	76990826	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.265+1G>T)	.	.	1.54486999777991E-5	0.036
18	74702782	C	G	18	76990826	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.265+1G>C)	.	.	1.54486999777991E-5	0.006
18	74702782	C	T	18	76990826	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.265+1G>A)	.	.	1.35379928190213E-5	0.0
18	74702783	C	A	18	76990827	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.14301101535901E-5	0.0
18	74702783	C	G	18	76990827	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.14301101535901E-5	0.0
18	74702783	C	T	18	76990827	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	4.14301101535901E-5	0.0
18	74702784	T	A	18	76990828	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	2.19348260541807E-5	0.04
18	74702784	T	C	18	76990828	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.42005417025298E-5	0.0
18	74702784	T	G	18	76990828	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	1.42005417025298E-5	0.0
18	74702785	G	A	18	76990829	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.65361214020652E-5	0.006
18	74702785	G	C	18	76990829	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.65361214020652E-5	0.008
18	74702785	G	T	18	76990829	n	y	intronic	MBP	.	.	UTR3	ENSG00000197971	.	.	5.65361214020652E-5	0.006
18	74702869	T	A	18	76990913	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000483025:exon2:c.A179T:p.E60V;	4.95905533305893E-5	0.0
18	74702869	T	C	18	76990913	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000483025:exon2:c.A179G:p.E60G;	5.65823046292135E-5	0.0
18	74702869	T	G	18	76990913	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000483025:exon2:c.A179C:p.E60A;	2.72841159385093E-5	0.0
18	74702870	C	A	18	76990914	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000483025:exon2:c.G178T:p.E60X;	9.05214370486973E-5	0.07
18	74702870	C	G	18	76990914	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000483025:exon2:c.G178C:p.E60Q;	1.86764315709017E-5	0.0
18	74702870	C	T	18	76990914	n	y	intronic	MBP	.	.	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000483025:exon2:c.G178A:p.E60K;	1.10714322530515E-4	0.002
18	74702871	C	A	18	76990915	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.178-1G>T)	.	.	3.15849948155271E-5	0.0
18	74702871	C	G	18	76990915	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.178-1G>C)	.	.	3.15849948155271E-5	0.0
18	74702871	C	T	18	76990915	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.178-1G>A)	.	.	3.15849948155271E-5	0.0
18	74702872	T	A	18	76990916	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.178-2A>T)	.	.	1.26718658278921E-5	0.006
18	74702872	T	C	18	76990916	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.178-2A>G)	.	.	1.26718658278921E-5	0.002
18	74702872	T	G	18	76990916	n	y	intronic	MBP	.	.	splicing	ENSG00000197971(ENST00000483025:exon3:c.178-2A>C)	.	.	1.26718658278921E-5	0.002
18	74702873	G	A	18	76990917	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.00238715200698E-5	0.0
18	74702873	G	C	18	76990917	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.00238715200698E-5	0.0
18	74702873	G	T	18	76990917	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.00238715200698E-5	0.0
18	74702874	A	C	18	76990918	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.48367148474546E-5	0.0
18	74702874	A	G	18	76990918	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.48367148474546E-5	0.0
18	74702874	A	T	18	76990918	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.52173701430229E-5	0.006
18	74702875	A	C	18	76990919	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74702875	A	G	18	76990919	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74702875	A	T	18	76990919	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74702876	G	A	18	76990920	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.81602517199445E-5	0.02
18	74702876	G	C	18	76990920	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.81602517199445E-5	0.02
18	74702876	G	T	18	76990920	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.81602517199445E-5	0.02
18	74702877	G	A	18	76990921	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.46004206284423E-5	0.0
18	74702877	G	C	18	76990921	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.46004206284423E-5	0.0
18	74702877	G	T	18	76990921	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.46004206284423E-5	0.0
18	74702878	T	A	18	76990922	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74702878	T	C	18	76990922	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74702878	T	G	18	76990922	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74702879	G	A	18	76990923	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.45277156108894E-5	0.002
18	74702879	G	C	18	76990923	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.45277156108894E-5	0.002
18	74702879	G	T	18	76990923	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.45277156108894E-5	0.002
18	74702880	A	C	18	76990924	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.10813846295192E-5	0.002
18	74702880	A	G	18	76990924	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.10813846295192E-5	0.002
18	74702880	A	T	18	76990924	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.10813846295192E-5	0.002
18	74702881	A	C	18	76990925	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.79022420352036E-5	0.004
18	74702881	A	G	18	76990925	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.79022420352036E-5	0.004
18	74702881	A	T	18	76990925	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.79022420352036E-5	0.004
18	74702882	C	A	18	76990926	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.20590404879984E-5	0.004
18	74702882	C	G	18	76990926	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.20590404879984E-5	0.004
18	74702882	C	T	18	76990926	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.20590404879984E-5	0.004
18	74721797	C	A	18	77009841	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.5982790009972E-4	0.0
18	74721797	C	G	18	77009841	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.33698758487849E-4	0.018
18	74721797	C	T	18	77009841	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.5982790009972E-4	0.006
18	74721798	G	A	18	77009842	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.19727987918671E-5	0.086
18	74721798	G	C	18	77009842	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.05242181345162E-4	0.094
18	74721798	G	T	18	77009842	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.19727987918671E-5	0.084
18	74721799	T	A	18	77009843	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.38982563459195E-4	0.014
18	74721799	T	C	18	77009843	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.38982563459195E-4	0.014
18	74721799	T	G	18	77009843	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.38982563459195E-4	0.014
18	74721800	C	A	18	77009844	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0188727900506883	0.024
18	74721800	C	G	18	77009844	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0188727900506883	0.026
18	74721800	C	T	18	77009844	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0289772872915353	0.036
18	74721801	T	A	18	77009845	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0426775421310891	0.274
18	74721801	T	C	18	77009845	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0134895746373409	0.148
18	74721801	T	G	18	77009845	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0134895746373409	0.148
18	74721802	T	A	18	77009846	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0426775421310891	0.392
18	74721802	T	C	18	77009846	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0160036312480292	0.172
18	74721802	T	G	18	77009846	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0160036312480292	0.19
18	74721803	A	C	18	77009847	y	y	splicing	MBP(NM_002385:exon3:c.255+2T>G;NM_001025081:exon3:c.255+2T>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.255+2T>G;ENST00000359645:exon3:c.255+2T>G;ENST00000447114:exon2:c.9+2T>G;ENST00000578873:exon3:c.255+2T>G)	.	.	0.409991694085349	0.72
18	74721803	A	G	18	77009847	y	y	splicing	MBP(NM_002385:exon3:c.255+2T>C;NM_001025081:exon3:c.255+2T>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.255+2T>C;ENST00000359645:exon3:c.255+2T>C;ENST00000447114:exon2:c.9+2T>C;ENST00000578873:exon3:c.255+2T>C)	.	.	0.409991694085349	0.72
18	74721803	A	T	18	77009847	y	y	splicing	MBP(NM_002385:exon3:c.255+2T>A;NM_001025081:exon3:c.255+2T>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.255+2T>A;ENST00000359645:exon3:c.255+2T>A;ENST00000447114:exon2:c.9+2T>A;ENST00000578873:exon3:c.255+2T>A)	.	.	0.516175766966948	0.728
18	74721804	C	A	18	77009848	y	y	splicing	MBP(NM_002385:exon3:c.255+1G>T;NM_001025081:exon3:c.255+1G>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.255+1G>T;ENST00000359645:exon3:c.255+1G>T;ENST00000447114:exon2:c.9+1G>T;ENST00000578873:exon3:c.255+1G>T)	.	.	0.891492434636599	0.808
18	74721804	C	G	18	77009848	y	y	splicing	MBP(NM_002385:exon3:c.255+1G>C;NM_001025081:exon3:c.255+1G>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.255+1G>C;ENST00000359645:exon3:c.255+1G>C;ENST00000447114:exon2:c.9+1G>C;ENST00000578873:exon3:c.255+1G>C)	.	.	0.828385568779249	0.808
18	74721804	C	T	18	77009848	y	y	splicing	MBP(NM_002385:exon3:c.255+1G>A;NM_001025081:exon3:c.255+1G>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.255+1G>A;ENST00000359645:exon3:c.255+1G>A;ENST00000447114:exon2:c.9+1G>A;ENST00000578873:exon3:c.255+1G>A)	.	.	0.939676099333624	0.808
18	74721805	C	A	18	77009849	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.G255T:p.K85N;MBP:NM_001025081:exon2:c.G255T:p.K85N;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.G255T:p.K85N;ENSG00000197971:ENST00000359645:exon2:c.G255T:p.K85N;ENSG00000197971:ENST00000447114:exon1:c.G9T:p.K3N;ENSG00000197971:ENST00000578873:exon2:c.G255T:p.K85N;	0.0106228908163107	0.024
18	74721805	C	G	18	77009849	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.G255C:p.K85N;MBP:NM_001025081:exon2:c.G255C:p.K85N;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.G255C:p.K85N;ENSG00000197971:ENST00000359645:exon2:c.G255C:p.K85N;ENSG00000197971:ENST00000447114:exon1:c.G9C:p.K3N;ENSG00000197971:ENST00000578873:exon2:c.G255C:p.K85N;	0.0106228908163107	0.026
18	74721805	C	T	18	77009849	y	y	exonic	MBP	synonymous SNV	MBP:NM_002385:exon2:c.G255A:p.K85K;MBP:NM_001025081:exon2:c.G255A:p.K85K;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.G255A:p.K85K;ENSG00000197971:ENST00000359645:exon2:c.G255A:p.K85K;ENSG00000197971:ENST00000447114:exon1:c.G9A:p.K3K;ENSG00000197971:ENST00000578873:exon2:c.G255A:p.K85K;	0.0836150479072055	0.218
18	74721806	T	A	18	77009850	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.A254T:p.K85M;MBP:NM_001025081:exon2:c.A254T:p.K85M;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.A254T:p.K85M;ENSG00000197971:ENST00000359645:exon2:c.A254T:p.K85M;ENSG00000197971:ENST00000447114:exon1:c.A8T:p.K3M;ENSG00000197971:ENST00000578873:exon2:c.A254T:p.K85M;	0.00360071037408262	0.034
18	74721806	T	C	18	77009850	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.A254G:p.K85R;MBP:NM_001025081:exon2:c.A254G:p.K85R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.A254G:p.K85R;ENSG00000197971:ENST00000359645:exon2:c.A254G:p.K85R;ENSG00000197971:ENST00000447114:exon1:c.A8G:p.K3R;ENSG00000197971:ENST00000578873:exon2:c.A254G:p.K85R;	0.00643253372314542	0.04
18	74721806	T	G	18	77009850	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.A254C:p.K85T;MBP:NM_001025081:exon2:c.A254C:p.K85T;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.A254C:p.K85T;ENSG00000197971:ENST00000359645:exon2:c.A254C:p.K85T;ENSG00000197971:ENST00000447114:exon1:c.A8C:p.K3T;ENSG00000197971:ENST00000578873:exon2:c.A254C:p.K85T;	0.00360071037408262	0.032
18	74721807	T	A	18	77009851	y	y	exonic	MBP	stopgain SNV	MBP:NM_002385:exon2:c.A253T:p.K85X;MBP:NM_001025081:exon2:c.A253T:p.K85X;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000382582:exon2:c.A253T:p.K85X;ENSG00000197971:ENST00000359645:exon2:c.A253T:p.K85X;ENSG00000197971:ENST00000447114:exon1:c.A7T:p.K3X;ENSG00000197971:ENST00000578873:exon2:c.A253T:p.K85X;	0.00116915959411498	0.318
18	74721807	T	C	18	77009851	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.A253G:p.K85E;MBP:NM_001025081:exon2:c.A253G:p.K85E;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.A253G:p.K85E;ENSG00000197971:ENST00000359645:exon2:c.A253G:p.K85E;ENSG00000197971:ENST00000447114:exon1:c.A7G:p.K3E;ENSG00000197971:ENST00000578873:exon2:c.A253G:p.K85E;	2.03983385959079E-4	0.0
18	74721807	T	G	18	77009851	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.A253C:p.K85Q;MBP:NM_001025081:exon2:c.A253C:p.K85Q;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.A253C:p.K85Q;ENSG00000197971:ENST00000359645:exon2:c.A253C:p.K85Q;ENSG00000197971:ENST00000447114:exon1:c.A7C:p.K3Q;ENSG00000197971:ENST00000578873:exon2:c.A253C:p.K85Q;	2.06127354470351E-4	0.0
18	74721881	A	C	18	77009925	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.T179G:p.V60G;MBP:NM_001025081:exon2:c.T179G:p.V60G;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.T179G:p.V60G;ENSG00000197971:ENST00000359645:exon2:c.T179G:p.V60G;ENSG00000197971:ENST00000578873:exon2:c.T179G:p.V60G;	0.00220702260956754	0.014
18	74721881	A	G	18	77009925	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.T179C:p.V60A;MBP:NM_001025081:exon2:c.T179C:p.V60A;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.T179C:p.V60A;ENSG00000197971:ENST00000359645:exon2:c.T179C:p.V60A;ENSG00000197971:ENST00000578873:exon2:c.T179C:p.V60A;	0.00225014457990107	0.03
18	74721881	A	T	18	77009925	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.T179A:p.V60E;MBP:NM_001025081:exon2:c.T179A:p.V60E;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.T179A:p.V60E;ENSG00000197971:ENST00000359645:exon2:c.T179A:p.V60E;ENSG00000197971:ENST00000578873:exon2:c.T179A:p.V60E;	0.00225014457990107	0.024
18	74721882	C	A	18	77009926	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.G178T:p.V60L;MBP:NM_001025081:exon2:c.G178T:p.V60L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.G178T:p.V60L;ENSG00000197971:ENST00000359645:exon2:c.G178T:p.V60L;ENSG00000197971:ENST00000578873:exon2:c.G178T:p.V60L;	0.0182398060985266	0.032
18	74721882	C	G	18	77009926	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.G178C:p.V60L;MBP:NM_001025081:exon2:c.G178C:p.V60L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.G178C:p.V60L;ENSG00000197971:ENST00000359645:exon2:c.G178C:p.V60L;ENSG00000197971:ENST00000578873:exon2:c.G178C:p.V60L;	0.0151962847912807	0.028
18	74721882	C	T	18	77009926	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_002385:exon2:c.G178A:p.V60I;MBP:NM_001025081:exon2:c.G178A:p.V60I;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000382582:exon2:c.G178A:p.V60I;ENSG00000197971:ENST00000359645:exon2:c.G178A:p.V60I;ENSG00000197971:ENST00000578873:exon2:c.G178A:p.V60I;	0.0182398060985266	0.03
18	74721883	C	A	18	77009927	y	y	splicing	MBP(NM_002385:exon3:c.178-1G>T;NM_001025081:exon3:c.178-1G>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.178-1G>T;ENST00000359645:exon3:c.178-1G>T;ENST00000578873:exon3:c.178-1G>T)	.	.	3.32870915864465E-4	0.018
18	74721883	C	G	18	77009927	y	y	splicing	MBP(NM_002385:exon3:c.178-1G>C;NM_001025081:exon3:c.178-1G>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.178-1G>C;ENST00000359645:exon3:c.178-1G>C;ENST00000578873:exon3:c.178-1G>C)	.	.	3.67992730005182E-4	0.016
18	74721883	C	T	18	77009927	y	y	splicing	MBP(NM_002385:exon3:c.178-1G>A;NM_001025081:exon3:c.178-1G>A)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.178-1G>A;ENST00000359645:exon3:c.178-1G>A;ENST00000578873:exon3:c.178-1G>A)	.	.	3.32870915864465E-4	0.016
18	74721884	T	A	18	77009928	y	y	splicing	MBP(NM_002385:exon3:c.178-2A>T;NM_001025081:exon3:c.178-2A>T)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.178-2A>T;ENST00000359645:exon3:c.178-2A>T;ENST00000578873:exon3:c.178-2A>T)	.	.	0.121264826040194	0.54
18	74721884	T	C	18	77009928	y	y	splicing	MBP(NM_002385:exon3:c.178-2A>G;NM_001025081:exon3:c.178-2A>G)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.178-2A>G;ENST00000359645:exon3:c.178-2A>G;ENST00000578873:exon3:c.178-2A>G)	.	.	0.0686729261200846	0.512
18	74721884	T	G	18	77009928	y	y	splicing	MBP(NM_002385:exon3:c.178-2A>C;NM_001025081:exon3:c.178-2A>C)	.	.	splicing	ENSG00000197971(ENST00000382582:exon3:c.178-2A>C;ENST00000359645:exon3:c.178-2A>C;ENST00000578873:exon3:c.178-2A>C)	.	.	0.11654248282348	0.51
18	74721885	G	A	18	77009929	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	0.0182398060985266	0.03
18	74721885	G	C	18	77009929	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	0.0151962847912807	0.028
18	74721885	G	T	18	77009929	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	0.0182398060985266	0.032
18	74721886	C	A	18	77009930	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	0.0151962847912807	0.028
18	74721886	C	G	18	77009930	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	0.0175136530047368	0.032
18	74721886	C	T	18	77009930	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	0.0182398060985266	0.032
18	74721887	C	A	18	77009931	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.46413180592529E-4	0.024
18	74721887	C	G	18	77009931	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.46413180592529E-4	0.008
18	74721887	C	T	18	77009931	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.46413180592529E-4	0.006
18	74721888	G	A	18	77009932	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	5.55862927766097E-5	0.0
18	74721888	G	C	18	77009932	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.01029157003238E-4	0.0
18	74721888	G	T	18	77009932	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.01029157003238E-4	0.002
18	74721889	G	A	18	77009933	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	6.96737020304725E-5	0.0
18	74721889	G	C	18	77009933	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	4.84767321715395E-5	0.0
18	74721889	G	T	18	77009933	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	6.96737020304725E-5	0.002
18	74721890	G	A	18	77009934	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.05343430742187E-4	0.018
18	74721890	G	C	18	77009934	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.04216853070732E-4	0.012
18	74721890	G	T	18	77009934	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.04216853070732E-4	0.012
18	74721891	G	A	18	77009935	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	0.00123558539255655	0.016
18	74721891	G	C	18	77009935	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	8.76314105744779E-4	0.006
18	74721891	G	T	18	77009935	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	0.00123558539255655	0.014
18	74721892	G	A	18	77009936	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.48774368876284E-4	0.01
18	74721892	G	C	18	77009936	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.35607693323837E-4	0.01
18	74721892	G	T	18	77009936	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.48774368876284E-4	0.008
18	74721893	A	C	18	77009937	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	7.5480235718294E-5	0.0
18	74721893	A	G	18	77009937	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	7.5480235718294E-5	0.0
18	74721893	A	T	18	77009937	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.08483495460727E-4	0.0
18	74721894	C	A	18	77009938	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.75275693303219E-4	0.012
18	74721894	C	G	18	77009938	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.73401366462724E-4	0.002
18	74721894	C	T	18	77009938	y	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	2.33950268484782E-4	0.002
18	74729223	T	A	18	77017267	y	y	exonic	MBP	synonymous SNV	MBP:NM_001025100:exon4:c.A141T:p.G47G;MBP:NM_001025101:exon4:c.A141T:p.G47G;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397863:exon4:c.A141T:p.G47G;ENSG00000197971:ENST00000397860:exon4:c.A141T:p.G47G;ENSG00000197971:ENST00000355994:exon4:c.A141T:p.G47G;ENSG00000197971:ENST00000579129:exon4:c.A141T:p.G47G;ENSG00000197971:ENST00000580402:exon3:c.A141T:p.G47G;ENSG00000197971:ENST00000581878:exon4:c.A141T:p.G47G;	1.11908592135134E-4	0.018
18	74729223	T	C	18	77017267	y	y	exonic	MBP	synonymous SNV	MBP:NM_001025100:exon4:c.A141G:p.G47G;MBP:NM_001025101:exon4:c.A141G:p.G47G;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397863:exon4:c.A141G:p.G47G;ENSG00000197971:ENST00000397860:exon4:c.A141G:p.G47G;ENSG00000197971:ENST00000355994:exon4:c.A141G:p.G47G;ENSG00000197971:ENST00000579129:exon4:c.A141G:p.G47G;ENSG00000197971:ENST00000580402:exon3:c.A141G:p.G47G;ENSG00000197971:ENST00000581878:exon4:c.A141G:p.G47G;	1.22777053730663E-4	0.012
18	74729223	T	G	18	77017267	y	y	exonic	MBP	synonymous SNV	MBP:NM_001025100:exon4:c.A141C:p.G47G;MBP:NM_001025101:exon4:c.A141C:p.G47G;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397863:exon4:c.A141C:p.G47G;ENSG00000197971:ENST00000397860:exon4:c.A141C:p.G47G;ENSG00000197971:ENST00000355994:exon4:c.A141C:p.G47G;ENSG00000197971:ENST00000579129:exon4:c.A141C:p.G47G;ENSG00000197971:ENST00000580402:exon3:c.A141C:p.G47G;ENSG00000197971:ENST00000581878:exon4:c.A141C:p.G47G;	2.10016418148259E-4	0.02
18	74729224	C	A	18	77017268	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon4:c.G140T:p.G47V;MBP:NM_001025101:exon4:c.G140T:p.G47V;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon4:c.G140T:p.G47V;ENSG00000197971:ENST00000397860:exon4:c.G140T:p.G47V;ENSG00000197971:ENST00000355994:exon4:c.G140T:p.G47V;ENSG00000197971:ENST00000579129:exon4:c.G140T:p.G47V;ENSG00000197971:ENST00000580402:exon3:c.G140T:p.G47V;ENSG00000197971:ENST00000581878:exon4:c.G140T:p.G47V;	0.999887579445848	0.998
18	74729224	C	G	18	77017268	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon4:c.G140C:p.G47A;MBP:NM_001025101:exon4:c.G140C:p.G47A;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon4:c.G140C:p.G47A;ENSG00000197971:ENST00000397860:exon4:c.G140C:p.G47A;ENSG00000197971:ENST00000355994:exon4:c.G140C:p.G47A;ENSG00000197971:ENST00000579129:exon4:c.G140C:p.G47A;ENSG00000197971:ENST00000580402:exon3:c.G140C:p.G47A;ENSG00000197971:ENST00000581878:exon4:c.G140C:p.G47A;	0.999745325316484	0.982
18	74729224	C	T	18	77017268	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon4:c.G140A:p.G47E;MBP:NM_001025101:exon4:c.G140A:p.G47E;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon4:c.G140A:p.G47E;ENSG00000197971:ENST00000397860:exon4:c.G140A:p.G47E;ENSG00000197971:ENST00000355994:exon4:c.G140A:p.G47E;ENSG00000197971:ENST00000579129:exon4:c.G140A:p.G47E;ENSG00000197971:ENST00000580402:exon3:c.G140A:p.G47E;ENSG00000197971:ENST00000581878:exon4:c.G140A:p.G47E;	0.99832990690885	0.934
18	74729225	C	A	18	77017269	y	y	splicing	MBP(NM_001025101:exon5:c.140-1G>T;NM_001025100:exon5:c.140-1G>T)	.	.	splicing	ENSG00000197971(ENST00000355994:exon5:c.140-1G>T;ENST00000579129:exon5:c.140-1G>T;ENST00000580402:exon4:c.140-1G>T;ENST00000397860:exon5:c.140-1G>T;ENST00000397863:exon5:c.140-1G>T;ENST00000581878:exon5:c.140-1G>T)	.	.	0.999981760802075	0.942
18	74729225	C	G	18	77017269	y	y	splicing	MBP(NM_001025101:exon5:c.140-1G>C;NM_001025100:exon5:c.140-1G>C)	.	.	splicing	ENSG00000197971(ENST00000355994:exon5:c.140-1G>C;ENST00000579129:exon5:c.140-1G>C;ENST00000580402:exon4:c.140-1G>C;ENST00000397860:exon5:c.140-1G>C;ENST00000397863:exon5:c.140-1G>C;ENST00000581878:exon5:c.140-1G>C)	.	.	0.999981760802075	0.942
18	74729225	C	T	18	77017269	y	y	splicing	MBP(NM_001025101:exon5:c.140-1G>A;NM_001025100:exon5:c.140-1G>A)	.	.	splicing	ENSG00000197971(ENST00000355994:exon5:c.140-1G>A;ENST00000579129:exon5:c.140-1G>A;ENST00000580402:exon4:c.140-1G>A;ENST00000397860:exon5:c.140-1G>A;ENST00000397863:exon5:c.140-1G>A;ENST00000581878:exon5:c.140-1G>A)	.	.	0.999981760802075	0.944
18	74729226	T	A	18	77017270	y	y	splicing	MBP(NM_001025101:exon5:c.140-2A>T;NM_001025100:exon5:c.140-2A>T)	.	.	splicing	ENSG00000197971(ENST00000355994:exon5:c.140-2A>T;ENST00000579129:exon5:c.140-2A>T;ENST00000580402:exon4:c.140-2A>T;ENST00000397860:exon5:c.140-2A>T;ENST00000397863:exon5:c.140-2A>T;ENST00000581878:exon5:c.140-2A>T)	.	.	0.999989917668626	0.926
18	74729226	T	C	18	77017270	y	y	splicing	MBP(NM_001025101:exon5:c.140-2A>G;NM_001025100:exon5:c.140-2A>G)	.	.	splicing	ENSG00000197971(ENST00000355994:exon5:c.140-2A>G;ENST00000579129:exon5:c.140-2A>G;ENST00000580402:exon4:c.140-2A>G;ENST00000397860:exon5:c.140-2A>G;ENST00000397863:exon5:c.140-2A>G;ENST00000581878:exon5:c.140-2A>G)	.	.	0.999989917668626	0.926
18	74729226	T	G	18	77017270	y	y	splicing	MBP(NM_001025101:exon5:c.140-2A>C;NM_001025100:exon5:c.140-2A>C)	.	.	splicing	ENSG00000197971(ENST00000355994:exon5:c.140-2A>C;ENST00000579129:exon5:c.140-2A>C;ENST00000580402:exon4:c.140-2A>C;ENST00000397860:exon5:c.140-2A>C;ENST00000397863:exon5:c.140-2A>C;ENST00000581878:exon5:c.140-2A>C)	.	.	0.999989917668626	0.926
18	74729227	G	A	18	77017271	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.990947963710465	0.466
18	74729227	G	C	18	77017271	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.99989309703991	0.958
18	74729227	G	T	18	77017271	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999823182537851	0.956
18	74729228	C	A	18	77017272	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.947863275556248	0.73
18	74729228	C	G	18	77017272	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.796887175235012	0.66
18	74729228	C	T	18	77017272	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.979548893098391	0.784
18	74729229	A	C	18	77017273	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.998670368395172	0.916
18	74729229	A	G	18	77017273	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0246400716865672	0.234
18	74729229	A	T	18	77017273	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999890680889425	0.96
18	74729230	A	C	18	77017274	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.980897434449734	0.784
18	74729230	A	G	18	77017274	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0442452922671798	0.402
18	74729230	A	T	18	77017274	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.992895685857473	0.828
18	74729231	A	C	18	77017275	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.994824317089603	0.828
18	74729231	A	G	18	77017275	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.162630473050888	0.506
18	74729231	A	T	18	77017275	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.998080727297538	0.854
18	74729232	C	A	18	77017276	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.211839033566505	0.352
18	74729232	C	G	18	77017276	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.137496130285583	0.306
18	74729232	C	T	18	77017276	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.796169141479777	0.452
18	74729233	A	C	18	77017277	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.986817828942235	0.862
18	74729233	A	G	18	77017277	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.107541900312613	0.444
18	74729233	A	T	18	77017277	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999974769256659	0.968
18	74729234	A	C	18	77017278	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.998474373018936	0.922
18	74729234	A	G	18	77017278	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0923911381630624	0.454
18	74729234	A	T	18	77017278	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999101975202555	0.922
18	74729235	C	A	18	77017279	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0245671092782776	0.324
18	74729235	C	G	18	77017279	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0394012448867565	0.356
18	74729235	C	T	18	77017279	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.114886069690713	0.3
18	74729236	A	C	18	77017280	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.931457965629956	0.708
18	74729236	A	G	18	77017280	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00499790981996168	0.082
18	74729236	A	T	18	77017280	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999917298291418	0.96
18	74729371	G	A	18	77017415	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.25524929795369E-5	0.0
18	74729371	G	C	18	77017415	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.25524929795369E-5	0.0
18	74729371	G	T	18	77017415	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.25524929795369E-5	0.0
18	74729372	A	C	18	77017416	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.38113264713725E-5	0.012
18	74729372	A	G	18	77017416	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.38113264713725E-5	0.012
18	74729372	A	T	18	77017416	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.04278140930798E-5	0.012
18	74729373	G	A	18	77017417	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.07646358301871E-5	0.002
18	74729373	G	C	18	77017417	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.07646358301871E-5	0.002
18	74729373	G	T	18	77017417	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.07646358301871E-5	0.002
18	74729374	C	A	18	77017418	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.92139461485032E-4	0.022
18	74729374	C	G	18	77017418	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.34994613623542E-4	0.022
18	74729374	C	T	18	77017418	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.92139461485032E-4	0.022
18	74729375	T	A	18	77017419	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.87872098031522E-5	0.0
18	74729375	T	C	18	77017419	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.87872098031522E-5	0.0
18	74729375	T	G	18	77017419	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.87872098031522E-5	0.0
18	74729376	A	C	18	77017420	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74729376	A	G	18	77017420	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74729376	A	T	18	77017420	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.31929338280547E-5	0.004
18	74729377	A	C	18	77017421	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	3.29172098833992E-5	0.006
18	74729377	A	G	18	77017421	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	3.29172098833992E-5	0.006
18	74729377	A	T	18	77017421	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	3.55183766894313E-5	0.01
18	74729378	C	A	18	77017422	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	4.88752881934496E-5	0.008
18	74729378	C	G	18	77017422	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	4.88752881934496E-5	0.006
18	74729378	C	T	18	77017422	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	4.88752881934496E-5	0.026
18	74729379	C	A	18	77017423	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.10453728637061E-4	0.016
18	74729379	C	G	18	77017423	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.08207686324468E-4	0.018
18	74729379	C	T	18	77017423	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.10453728637061E-4	0.016
18	74729380	T	A	18	77017424	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	5.15941453541388E-5	0.002
18	74729380	T	C	18	77017424	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	6.89925739660516E-5	0.02
18	74729380	T	G	18	77017424	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	6.89925739660516E-5	0.04
18	74729381	G	A	18	77017425	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	9.37966511774992E-5	0.018
18	74729381	G	C	18	77017425	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	9.37966511774992E-5	0.018
18	74729381	G	T	18	77017425	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	9.37966511774992E-5	0.018
18	74778246	T	A	18	77066290	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.94472963965377E-5	0.0
18	74778246	T	C	18	77066290	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.55951683147344E-5	0.002
18	74778246	T	G	18	77066290	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.78968192679613E-5	0.0
18	74778247	C	A	18	77066291	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.6755021929872E-4	0.068
18	74778247	C	G	18	77066291	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.00675832680685E-4	0.0
18	74778247	C	T	18	77066291	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.01004895637571E-4	0.0
18	74778248	A	C	18	77066292	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.24481177271191	0.538
18	74778248	A	G	18	77066292	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.173128337167347	0.506
18	74778248	A	T	18	77066292	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.223280767147923	0.392
18	74778249	C	A	18	77066293	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999992988306823	0.974
18	74778249	C	G	18	77066293	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999993789318878	0.984
18	74778249	C	T	18	77066293	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999950329541955	0.964
18	74778250	C	A	18	77066294	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.17283355918006E-4	0.022
18	74778250	C	G	18	77066294	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.04392127925185E-4	0.036
18	74778250	C	T	18	77066294	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.37994258981383E-4	0.084
18	74778251	T	A	18	77066295	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.980982800980314	0.864
18	74778251	T	C	18	77066295	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.756995129968021	0.666
18	74778251	T	G	18	77066295	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.990502805700655	0.862
18	74778252	A	C	18	77066296	y	y	splicing	MBP(NM_001025101:exon4:c.139+2T>G;NM_001025100:exon4:c.139+2T>G)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.139+2T>G;ENST00000579129:exon4:c.139+2T>G;ENST00000580402:exon3:c.139+2T>G;ENST00000397860:exon4:c.139+2T>G;ENST00000397863:exon4:c.139+2T>G;ENST00000581878:exon4:c.139+2T>G)	.	.	0.999975930788337	0.936
18	74778252	A	G	18	77066296	y	y	splicing	MBP(NM_001025101:exon4:c.139+2T>C;NM_001025100:exon4:c.139+2T>C)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.139+2T>C;ENST00000579129:exon4:c.139+2T>C;ENST00000580402:exon3:c.139+2T>C;ENST00000397860:exon4:c.139+2T>C;ENST00000397863:exon4:c.139+2T>C;ENST00000581878:exon4:c.139+2T>C)	.	.	0.962497628385768	0.578
18	74778252	A	T	18	77066296	y	y	splicing	MBP(NM_001025101:exon4:c.139+2T>A;NM_001025100:exon4:c.139+2T>A)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.139+2T>A;ENST00000579129:exon4:c.139+2T>A;ENST00000580402:exon3:c.139+2T>A;ENST00000397860:exon4:c.139+2T>A;ENST00000397863:exon4:c.139+2T>A;ENST00000581878:exon4:c.139+2T>A)	.	.	0.999975930788337	0.944
18	74778253	C	A	18	77066297	y	y	splicing	MBP(NM_001025101:exon4:c.139+1G>T;NM_001025100:exon4:c.139+1G>T)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.139+1G>T;ENST00000579129:exon4:c.139+1G>T;ENST00000580402:exon3:c.139+1G>T;ENST00000397860:exon4:c.139+1G>T;ENST00000397863:exon4:c.139+1G>T;ENST00000581878:exon4:c.139+1G>T)	.	.	0.999916487880886	0.942
18	74778253	C	G	18	77066297	y	y	splicing	MBP(NM_001025101:exon4:c.139+1G>C;NM_001025100:exon4:c.139+1G>C)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.139+1G>C;ENST00000579129:exon4:c.139+1G>C;ENST00000580402:exon3:c.139+1G>C;ENST00000397860:exon4:c.139+1G>C;ENST00000397863:exon4:c.139+1G>C;ENST00000581878:exon4:c.139+1G>C)	.	.	0.999945520654368	0.94
18	74778253	C	T	18	77066297	y	y	splicing	MBP(NM_001025101:exon4:c.139+1G>A;NM_001025100:exon4:c.139+1G>A)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.139+1G>A;ENST00000579129:exon4:c.139+1G>A;ENST00000580402:exon3:c.139+1G>A;ENST00000397860:exon4:c.139+1G>A;ENST00000397863:exon4:c.139+1G>A;ENST00000581878:exon4:c.139+1G>A)	.	.	0.999916487880886	0.928
18	74778254	C	A	18	77066298	y	y	exonic	MBP	stopgain SNV	MBP:NM_001025100:exon3:c.G139T:p.G47X;MBP:NM_001025101:exon3:c.G139T:p.G47X;	exonic	ENSG00000197971	stopgain SNV	ENSG00000197971:ENST00000397863:exon3:c.G139T:p.G47X;ENSG00000197971:ENST00000397860:exon3:c.G139T:p.G47X;ENSG00000197971:ENST00000355994:exon3:c.G139T:p.G47X;ENSG00000197971:ENST00000579129:exon3:c.G139T:p.G47X;ENSG00000197971:ENST00000580402:exon2:c.G139T:p.G47X;ENSG00000197971:ENST00000581878:exon3:c.G139T:p.G47X;	0.999890033981694	0.948
18	74778254	C	G	18	77066298	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.G139C:p.G47R;MBP:NM_001025101:exon3:c.G139C:p.G47R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon3:c.G139C:p.G47R;ENSG00000197971:ENST00000397860:exon3:c.G139C:p.G47R;ENSG00000197971:ENST00000355994:exon3:c.G139C:p.G47R;ENSG00000197971:ENST00000579129:exon3:c.G139C:p.G47R;ENSG00000197971:ENST00000580402:exon2:c.G139C:p.G47R;ENSG00000197971:ENST00000581878:exon3:c.G139C:p.G47R;	0.999935619103797	0.81
18	74778254	C	T	18	77066298	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.G139A:p.G47R;MBP:NM_001025101:exon3:c.G139A:p.G47R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon3:c.G139A:p.G47R;ENSG00000197971:ENST00000397860:exon3:c.G139A:p.G47R;ENSG00000197971:ENST00000355994:exon3:c.G139A:p.G47R;ENSG00000197971:ENST00000579129:exon3:c.G139A:p.G47R;ENSG00000197971:ENST00000580402:exon2:c.G139A:p.G47R;ENSG00000197971:ENST00000581878:exon3:c.G139A:p.G47R;	0.999261321661775	0.922
18	74778255	G	A	18	77066299	y	y	exonic	MBP	synonymous SNV	MBP:NM_001025100:exon3:c.C138T:p.F46F;MBP:NM_001025101:exon3:c.C138T:p.F46F;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000397863:exon3:c.C138T:p.F46F;ENSG00000197971:ENST00000397860:exon3:c.C138T:p.F46F;ENSG00000197971:ENST00000355994:exon3:c.C138T:p.F46F;ENSG00000197971:ENST00000579129:exon3:c.C138T:p.F46F;ENSG00000197971:ENST00000580402:exon2:c.C138T:p.F46F;ENSG00000197971:ENST00000581878:exon3:c.C138T:p.F46F;	0.00459240942291995	0.048
18	74778255	G	C	18	77066299	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.C138G:p.F46L;MBP:NM_001025101:exon3:c.C138G:p.F46L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon3:c.C138G:p.F46L;ENSG00000197971:ENST00000397860:exon3:c.C138G:p.F46L;ENSG00000197971:ENST00000355994:exon3:c.C138G:p.F46L;ENSG00000197971:ENST00000579129:exon3:c.C138G:p.F46L;ENSG00000197971:ENST00000580402:exon2:c.C138G:p.F46L;ENSG00000197971:ENST00000581878:exon3:c.C138G:p.F46L;	0.00858088016115063	0.17
18	74778255	G	T	18	77066299	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.C138A:p.F46L;MBP:NM_001025101:exon3:c.C138A:p.F46L;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon3:c.C138A:p.F46L;ENSG00000197971:ENST00000397860:exon3:c.C138A:p.F46L;ENSG00000197971:ENST00000355994:exon3:c.C138A:p.F46L;ENSG00000197971:ENST00000579129:exon3:c.C138A:p.F46L;ENSG00000197971:ENST00000580402:exon2:c.C138A:p.F46L;ENSG00000197971:ENST00000581878:exon3:c.C138A:p.F46L;	1.36473900071232E-4	0.16
18	74778256	A	C	18	77066300	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.T137G:p.F46C;MBP:NM_001025101:exon3:c.T137G:p.F46C;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon3:c.T137G:p.F46C;ENSG00000197971:ENST00000397860:exon3:c.T137G:p.F46C;ENSG00000197971:ENST00000355994:exon3:c.T137G:p.F46C;ENSG00000197971:ENST00000579129:exon3:c.T137G:p.F46C;ENSG00000197971:ENST00000580402:exon2:c.T137G:p.F46C;ENSG00000197971:ENST00000581878:exon3:c.T137G:p.F46C;	0.00139070333973706	0.05
18	74778256	A	G	18	77066300	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.T137C:p.F46S;MBP:NM_001025101:exon3:c.T137C:p.F46S;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon3:c.T137C:p.F46S;ENSG00000197971:ENST00000397860:exon3:c.T137C:p.F46S;ENSG00000197971:ENST00000355994:exon3:c.T137C:p.F46S;ENSG00000197971:ENST00000579129:exon3:c.T137C:p.F46S;ENSG00000197971:ENST00000580402:exon2:c.T137C:p.F46S;ENSG00000197971:ENST00000581878:exon3:c.T137C:p.F46S;	0.00103575331653734	0.008
18	74778256	A	T	18	77066300	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.T137A:p.F46Y;MBP:NM_001025101:exon3:c.T137A:p.F46Y;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000397863:exon3:c.T137A:p.F46Y;ENSG00000197971:ENST00000397860:exon3:c.T137A:p.F46Y;ENSG00000197971:ENST00000355994:exon3:c.T137A:p.F46Y;ENSG00000197971:ENST00000579129:exon3:c.T137A:p.F46Y;ENSG00000197971:ENST00000580402:exon2:c.T137A:p.F46Y;ENSG00000197971:ENST00000581878:exon3:c.T137A:p.F46Y;	0.0014685213739439	0.01
18	74778340	T	A	18	77066384	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.A53T:p.N18I;MBP:NM_001025101:exon3:c.A53T:p.N18I;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon3:c.A53T:p.N18I;ENSG00000197971:ENST00000397863:exon3:c.A53T:p.N18I;ENSG00000197971:ENST00000397860:exon3:c.A53T:p.N18I;ENSG00000197971:ENST00000355994:exon3:c.A53T:p.N18I;ENSG00000197971:ENST00000579129:exon3:c.A53T:p.N18I;ENSG00000197971:ENST00000580402:exon2:c.A53T:p.N18I;ENSG00000197971:ENST00000581878:exon3:c.A53T:p.N18I;	1.43859650929711E-5	0.046
18	74778340	T	C	18	77066384	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.A53G:p.N18S;MBP:NM_001025101:exon3:c.A53G:p.N18S;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon3:c.A53G:p.N18S;ENSG00000197971:ENST00000397863:exon3:c.A53G:p.N18S;ENSG00000197971:ENST00000397860:exon3:c.A53G:p.N18S;ENSG00000197971:ENST00000355994:exon3:c.A53G:p.N18S;ENSG00000197971:ENST00000579129:exon3:c.A53G:p.N18S;ENSG00000197971:ENST00000580402:exon2:c.A53G:p.N18S;ENSG00000197971:ENST00000581878:exon3:c.A53G:p.N18S;	1.13419018448213E-4	0.04
18	74778340	T	G	18	77066384	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.A53C:p.N18T;MBP:NM_001025101:exon3:c.A53C:p.N18T;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon3:c.A53C:p.N18T;ENSG00000197971:ENST00000397863:exon3:c.A53C:p.N18T;ENSG00000197971:ENST00000397860:exon3:c.A53C:p.N18T;ENSG00000197971:ENST00000355994:exon3:c.A53C:p.N18T;ENSG00000197971:ENST00000579129:exon3:c.A53C:p.N18T;ENSG00000197971:ENST00000580402:exon2:c.A53C:p.N18T;ENSG00000197971:ENST00000581878:exon3:c.A53C:p.N18T;	4.82679148096788E-5	0.01
18	74778341	T	A	18	77066385	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.A52T:p.N18Y;MBP:NM_001025101:exon3:c.A52T:p.N18Y;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon3:c.A52T:p.N18Y;ENSG00000197971:ENST00000397863:exon3:c.A52T:p.N18Y;ENSG00000197971:ENST00000397860:exon3:c.A52T:p.N18Y;ENSG00000197971:ENST00000355994:exon3:c.A52T:p.N18Y;ENSG00000197971:ENST00000579129:exon3:c.A52T:p.N18Y;ENSG00000197971:ENST00000580402:exon2:c.A52T:p.N18Y;ENSG00000197971:ENST00000581878:exon3:c.A52T:p.N18Y;	6.88737646861173E-5	0.004
18	74778341	T	C	18	77066385	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.A52G:p.N18D;MBP:NM_001025101:exon3:c.A52G:p.N18D;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon3:c.A52G:p.N18D;ENSG00000197971:ENST00000397863:exon3:c.A52G:p.N18D;ENSG00000197971:ENST00000397860:exon3:c.A52G:p.N18D;ENSG00000197971:ENST00000355994:exon3:c.A52G:p.N18D;ENSG00000197971:ENST00000579129:exon3:c.A52G:p.N18D;ENSG00000197971:ENST00000580402:exon2:c.A52G:p.N18D;ENSG00000197971:ENST00000581878:exon3:c.A52G:p.N18D;	9.88458608545409E-6	0.0
18	74778341	T	G	18	77066385	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon3:c.A52C:p.N18H;MBP:NM_001025101:exon3:c.A52C:p.N18H;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon3:c.A52C:p.N18H;ENSG00000197971:ENST00000397863:exon3:c.A52C:p.N18H;ENSG00000197971:ENST00000397860:exon3:c.A52C:p.N18H;ENSG00000197971:ENST00000355994:exon3:c.A52C:p.N18H;ENSG00000197971:ENST00000579129:exon3:c.A52C:p.N18H;ENSG00000197971:ENST00000580402:exon2:c.A52C:p.N18H;ENSG00000197971:ENST00000581878:exon3:c.A52C:p.N18H;	7.59509478356733E-5	0.012
18	74778342	C	A	18	77066386	y	y	splicing	MBP(NM_001025101:exon4:c.52-1G>T;NM_001025100:exon4:c.52-1G>T)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.52-1G>T;ENST00000579129:exon4:c.52-1G>T;ENST00000580402:exon3:c.52-1G>T;ENST00000397860:exon4:c.52-1G>T;ENST00000397863:exon4:c.52-1G>T;ENST00000581878:exon4:c.52-1G>T;ENST00000583798:exon4:c.52-1G>T)	.	.	0.999975788563665	0.762
18	74778342	C	G	18	77066386	y	y	splicing	MBP(NM_001025101:exon4:c.52-1G>C;NM_001025100:exon4:c.52-1G>C)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.52-1G>C;ENST00000579129:exon4:c.52-1G>C;ENST00000580402:exon3:c.52-1G>C;ENST00000397860:exon4:c.52-1G>C;ENST00000397863:exon4:c.52-1G>C;ENST00000581878:exon4:c.52-1G>C;ENST00000583798:exon4:c.52-1G>C)	.	.	0.999983516200275	0.764
18	74778342	C	T	18	77066386	y	y	splicing	MBP(NM_001025101:exon4:c.52-1G>A;NM_001025100:exon4:c.52-1G>A)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.52-1G>A;ENST00000579129:exon4:c.52-1G>A;ENST00000580402:exon3:c.52-1G>A;ENST00000397860:exon4:c.52-1G>A;ENST00000397863:exon4:c.52-1G>A;ENST00000581878:exon4:c.52-1G>A;ENST00000583798:exon4:c.52-1G>A)	.	.	0.999975788563665	0.748
18	74778343	T	A	18	77066387	y	y	splicing	MBP(NM_001025101:exon4:c.52-2A>T;NM_001025100:exon4:c.52-2A>T)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.52-2A>T;ENST00000579129:exon4:c.52-2A>T;ENST00000580402:exon3:c.52-2A>T;ENST00000397860:exon4:c.52-2A>T;ENST00000397863:exon4:c.52-2A>T;ENST00000581878:exon4:c.52-2A>T;ENST00000583798:exon4:c.52-2A>T)	.	.	0.999980255680118	0.75
18	74778343	T	C	18	77066387	y	y	splicing	MBP(NM_001025101:exon4:c.52-2A>G;NM_001025100:exon4:c.52-2A>G)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.52-2A>G;ENST00000579129:exon4:c.52-2A>G;ENST00000580402:exon3:c.52-2A>G;ENST00000397860:exon4:c.52-2A>G;ENST00000397863:exon4:c.52-2A>G;ENST00000581878:exon4:c.52-2A>G;ENST00000583798:exon4:c.52-2A>G)	.	.	0.999984399620937	0.754
18	74778343	T	G	18	77066387	y	y	splicing	MBP(NM_001025101:exon4:c.52-2A>C;NM_001025100:exon4:c.52-2A>C)	.	.	splicing	ENSG00000197971(ENST00000355994:exon4:c.52-2A>C;ENST00000579129:exon4:c.52-2A>C;ENST00000580402:exon3:c.52-2A>C;ENST00000397860:exon4:c.52-2A>C;ENST00000397863:exon4:c.52-2A>C;ENST00000581878:exon4:c.52-2A>C;ENST00000583798:exon4:c.52-2A>C)	.	.	0.999984399620937	0.754
18	74778344	G	A	18	77066388	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0055724918107241	0.118
18	74778344	G	C	18	77066388	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.997251713559603	0.844
18	74778344	G	T	18	77066388	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.628666410251642	0.546
18	74778345	G	A	18	77066389	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.55424635384038E-5	0.002
18	74778345	G	C	18	77066389	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.65361366065127E-5	0.004
18	74778345	G	T	18	77066389	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.91009997176506E-5	0.002
18	74778346	A	C	18	77066390	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.7440362176357E-4	0.05
18	74778346	A	G	18	77066390	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.35282541085105E-5	0.002
18	74778346	A	T	18	77066390	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.65326090430272E-4	0.008
18	74778347	A	C	18	77066391	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.1694772496189E-4	0.05
18	74778347	A	G	18	77066391	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.23635134707542E-5	0.0
18	74778347	A	T	18	77066391	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.05859284570865E-4	0.032
18	74778348	A	C	18	77066392	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.33515668970152E-5	0.042
18	74778348	A	G	18	77066392	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	8.7455792842162E-6	0.0
18	74778348	A	T	18	77066392	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.29327321449959E-4	0.064
18	74778349	A	C	18	77066393	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.49218375546945E-5	0.014
18	74778349	A	G	18	77066393	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.25715470778123E-5	0.004
18	74778349	A	T	18	77066393	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.24484945133507E-5	0.012
18	74778350	A	C	18	77066394	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.89078242307516E-5	0.016
18	74778350	A	G	18	77066394	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.80413470741493E-5	0.002
18	74778350	A	T	18	77066394	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.89078242307516E-5	0.024
18	74778351	G	A	18	77066395	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.85522874952899E-5	0.012
18	74778351	G	C	18	77066395	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.34276296679886E-4	0.006
18	74778351	G	T	18	77066395	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	8.99400834508488E-5	0.012
18	74778352	A	C	18	77066396	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.05265320554625E-4	0.132
18	74778352	A	G	18	77066396	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.37188535695137E-5	0.012
18	74778352	A	T	18	77066396	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.43981667130853E-4	0.136
18	74778353	A	C	18	77066397	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.27274813407998E-4	0.064
18	74778353	A	G	18	77066397	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.31943843684938E-5	0.002
18	74778353	A	T	18	77066397	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.48836377720997E-4	0.096
18	74817159	C	A	18	77105203	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.36197223307862E-5	0.0
18	74817159	C	G	18	77105203	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.51290618449768E-5	0.0
18	74817159	C	T	18	77105203	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.76887829887856E-5	0.0
18	74817160	G	A	18	77105204	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.18168700964336E-5	0.002
18	74817160	G	C	18	77105204	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.87544548170259E-5	0.002
18	74817160	G	T	18	77105204	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.78992142291779E-5	0.004
18	74817161	T	A	18	77105205	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.0333351452307E-5	0.004
18	74817161	T	C	18	77105205	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.42320830991243E-5	0.002
18	74817161	T	G	18	77105205	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.05615269299077E-5	0.014
18	74817162	C	A	18	77105206	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.99910283088341	0.796
18	74817162	C	G	18	77105206	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999356625099515	0.894
18	74817162	C	T	18	77105206	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.991993442970954	0.786
18	74817163	T	A	18	77105207	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.392399106944071	0.32
18	74817163	T	C	18	77105207	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.166581201943707	0.268
18	74817163	T	G	18	77105207	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.230423061350855	0.366
18	74817164	T	A	18	77105208	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.986947705045759	0.714
18	74817164	T	C	18	77105208	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00123722090274596	0.118
18	74817164	T	G	18	77105208	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.975059121951323	0.75
18	74817165	A	C	18	77105209	y	y	splicing	MBP(NM_001025101:exon3:c.51+2T>G;NM_001025100:exon3:c.51+2T>G)	.	.	splicing	ENSG00000197971(ENST00000355994:exon3:c.51+2T>G;ENST00000579129:exon3:c.51+2T>G;ENST00000580402:exon2:c.51+2T>G;ENST00000397860:exon3:c.51+2T>G;ENST00000397863:exon3:c.51+2T>G;ENST00000581878:exon3:c.51+2T>G;ENST00000583798:exon3:c.51+2T>G)	.	.	0.999962958601995	0.804
18	74817165	A	G	18	77105209	y	y	splicing	MBP(NM_001025101:exon3:c.51+2T>C;NM_001025100:exon3:c.51+2T>C)	.	.	splicing	ENSG00000197971(ENST00000355994:exon3:c.51+2T>C;ENST00000579129:exon3:c.51+2T>C;ENST00000580402:exon2:c.51+2T>C;ENST00000397860:exon3:c.51+2T>C;ENST00000397863:exon3:c.51+2T>C;ENST00000581878:exon3:c.51+2T>C;ENST00000583798:exon3:c.51+2T>C)	.	.	0.999036964395684	0.804
18	74817165	A	T	18	77105209	y	y	splicing	MBP(NM_001025101:exon3:c.51+2T>A;NM_001025100:exon3:c.51+2T>A)	.	.	splicing	ENSG00000197971(ENST00000355994:exon3:c.51+2T>A;ENST00000579129:exon3:c.51+2T>A;ENST00000580402:exon2:c.51+2T>A;ENST00000397860:exon3:c.51+2T>A;ENST00000397863:exon3:c.51+2T>A;ENST00000581878:exon3:c.51+2T>A;ENST00000583798:exon3:c.51+2T>A)	.	.	0.999962958601995	0.844
18	74817166	C	A	18	77105210	y	y	splicing	MBP(NM_001025101:exon3:c.51+1G>T;NM_001025100:exon3:c.51+1G>T)	.	.	splicing	ENSG00000197971(ENST00000355994:exon3:c.51+1G>T;ENST00000579129:exon3:c.51+1G>T;ENST00000580402:exon2:c.51+1G>T;ENST00000397860:exon3:c.51+1G>T;ENST00000397863:exon3:c.51+1G>T;ENST00000581878:exon3:c.51+1G>T;ENST00000583798:exon3:c.51+1G>T)	.	.	0.999958003653399	0.806
18	74817166	C	G	18	77105210	y	y	splicing	MBP(NM_001025101:exon3:c.51+1G>C;NM_001025100:exon3:c.51+1G>C)	.	.	splicing	ENSG00000197971(ENST00000355994:exon3:c.51+1G>C;ENST00000579129:exon3:c.51+1G>C;ENST00000580402:exon2:c.51+1G>C;ENST00000397860:exon3:c.51+1G>C;ENST00000397863:exon3:c.51+1G>C;ENST00000581878:exon3:c.51+1G>C;ENST00000583798:exon3:c.51+1G>C)	.	.	0.999958003653399	0.798
18	74817166	C	T	18	77105210	y	y	splicing	MBP(NM_001025101:exon3:c.51+1G>A;NM_001025100:exon3:c.51+1G>A)	.	.	splicing	ENSG00000197971(ENST00000355994:exon3:c.51+1G>A;ENST00000579129:exon3:c.51+1G>A;ENST00000580402:exon2:c.51+1G>A;ENST00000397860:exon3:c.51+1G>A;ENST00000397863:exon3:c.51+1G>A;ENST00000581878:exon3:c.51+1G>A;ENST00000583798:exon3:c.51+1G>A)	.	.	0.999958003653399	0.81
18	74817167	C	A	18	77105211	y	y	exonic	MBP	synonymous SNV	MBP:NM_001025100:exon2:c.G51T:p.T17T;MBP:NM_001025101:exon2:c.G51T:p.T17T;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.G51T:p.T17T;ENSG00000197971:ENST00000397863:exon2:c.G51T:p.T17T;ENSG00000197971:ENST00000397860:exon2:c.G51T:p.T17T;ENSG00000197971:ENST00000355994:exon2:c.G51T:p.T17T;ENSG00000197971:ENST00000579129:exon2:c.G51T:p.T17T;ENSG00000197971:ENST00000580402:exon1:c.G51T:p.T17T;ENSG00000197971:ENST00000581878:exon2:c.G51T:p.T17T;	0.999653366484669	0.958
18	74817167	C	G	18	77105211	y	y	exonic	MBP	synonymous SNV	MBP:NM_001025100:exon2:c.G51C:p.T17T;MBP:NM_001025101:exon2:c.G51C:p.T17T;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.G51C:p.T17T;ENSG00000197971:ENST00000397863:exon2:c.G51C:p.T17T;ENSG00000197971:ENST00000397860:exon2:c.G51C:p.T17T;ENSG00000197971:ENST00000355994:exon2:c.G51C:p.T17T;ENSG00000197971:ENST00000579129:exon2:c.G51C:p.T17T;ENSG00000197971:ENST00000580402:exon1:c.G51C:p.T17T;ENSG00000197971:ENST00000581878:exon2:c.G51C:p.T17T;	0.999933724435752	0.864
18	74817167	C	T	18	77105211	y	y	exonic	MBP	synonymous SNV	MBP:NM_001025100:exon2:c.G51A:p.T17T;MBP:NM_001025101:exon2:c.G51A:p.T17T;	exonic	ENSG00000197971	synonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.G51A:p.T17T;ENSG00000197971:ENST00000397863:exon2:c.G51A:p.T17T;ENSG00000197971:ENST00000397860:exon2:c.G51A:p.T17T;ENSG00000197971:ENST00000355994:exon2:c.G51A:p.T17T;ENSG00000197971:ENST00000579129:exon2:c.G51A:p.T17T;ENSG00000197971:ENST00000580402:exon1:c.G51A:p.T17T;ENSG00000197971:ENST00000581878:exon2:c.G51A:p.T17T;	0.998443370933501	0.896
18	74817168	G	A	18	77105212	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon2:c.C50T:p.T17M;MBP:NM_001025101:exon2:c.C50T:p.T17M;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.C50T:p.T17M;ENSG00000197971:ENST00000397863:exon2:c.C50T:p.T17M;ENSG00000197971:ENST00000397860:exon2:c.C50T:p.T17M;ENSG00000197971:ENST00000355994:exon2:c.C50T:p.T17M;ENSG00000197971:ENST00000579129:exon2:c.C50T:p.T17M;ENSG00000197971:ENST00000580402:exon1:c.C50T:p.T17M;ENSG00000197971:ENST00000581878:exon2:c.C50T:p.T17M;	1.90148902155098E-4	0.03
18	74817168	G	C	18	77105212	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon2:c.C50G:p.T17R;MBP:NM_001025101:exon2:c.C50G:p.T17R;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.C50G:p.T17R;ENSG00000197971:ENST00000397863:exon2:c.C50G:p.T17R;ENSG00000197971:ENST00000397860:exon2:c.C50G:p.T17R;ENSG00000197971:ENST00000355994:exon2:c.C50G:p.T17R;ENSG00000197971:ENST00000579129:exon2:c.C50G:p.T17R;ENSG00000197971:ENST00000580402:exon1:c.C50G:p.T17R;ENSG00000197971:ENST00000581878:exon2:c.C50G:p.T17R;	1.97061852225082E-4	0.0
18	74817168	G	T	18	77105212	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon2:c.C50A:p.T17K;MBP:NM_001025101:exon2:c.C50A:p.T17K;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.C50A:p.T17K;ENSG00000197971:ENST00000397863:exon2:c.C50A:p.T17K;ENSG00000197971:ENST00000397860:exon2:c.C50A:p.T17K;ENSG00000197971:ENST00000355994:exon2:c.C50A:p.T17K;ENSG00000197971:ENST00000579129:exon2:c.C50A:p.T17K;ENSG00000197971:ENST00000580402:exon1:c.C50A:p.T17K;ENSG00000197971:ENST00000581878:exon2:c.C50A:p.T17K;	3.79932908284378E-5	0.06
18	74817169	T	A	18	77105213	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon2:c.A49T:p.T17S;MBP:NM_001025101:exon2:c.A49T:p.T17S;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.A49T:p.T17S;ENSG00000197971:ENST00000397863:exon2:c.A49T:p.T17S;ENSG00000197971:ENST00000397860:exon2:c.A49T:p.T17S;ENSG00000197971:ENST00000355994:exon2:c.A49T:p.T17S;ENSG00000197971:ENST00000579129:exon2:c.A49T:p.T17S;ENSG00000197971:ENST00000580402:exon1:c.A49T:p.T17S;ENSG00000197971:ENST00000581878:exon2:c.A49T:p.T17S;	1.55078456380161E-4	0.072
18	74817169	T	C	18	77105213	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon2:c.A49G:p.T17A;MBP:NM_001025101:exon2:c.A49G:p.T17A;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.A49G:p.T17A;ENSG00000197971:ENST00000397863:exon2:c.A49G:p.T17A;ENSG00000197971:ENST00000397860:exon2:c.A49G:p.T17A;ENSG00000197971:ENST00000355994:exon2:c.A49G:p.T17A;ENSG00000197971:ENST00000579129:exon2:c.A49G:p.T17A;ENSG00000197971:ENST00000580402:exon1:c.A49G:p.T17A;ENSG00000197971:ENST00000581878:exon2:c.A49G:p.T17A;	6.40736200890642E-5	0.004
18	74817169	T	G	18	77105213	y	y	exonic	MBP	nonsynonymous SNV	MBP:NM_001025100:exon2:c.A49C:p.T17P;MBP:NM_001025101:exon2:c.A49C:p.T17P;	exonic	ENSG00000197971	nonsynonymous SNV	ENSG00000197971:ENST00000583798:exon2:c.A49C:p.T17P;ENSG00000197971:ENST00000397863:exon2:c.A49C:p.T17P;ENSG00000197971:ENST00000397860:exon2:c.A49C:p.T17P;ENSG00000197971:ENST00000355994:exon2:c.A49C:p.T17P;ENSG00000197971:ENST00000579129:exon2:c.A49C:p.T17P;ENSG00000197971:ENST00000580402:exon1:c.A49C:p.T17P;ENSG00000197971:ENST00000581878:exon2:c.A49C:p.T17P;	1.74318993422124E-5	0.004
18	74817241	G	A	18	77105285	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	1.17855111212E-5	0.0
18	74817241	G	C	18	77105285	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	2.93112968166426E-5	0.006
18	74817241	G	T	18	77105285	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	3.29981119647485E-5	0.004
18	74817242	G	A	18	77105286	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.00559056752049653	0.132
18	74817242	G	C	18	77105286	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	7.13159331672368E-4	0.08
18	74817242	G	T	18	77105286	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	4.79029600978584E-4	0.01
18	74817243	C	A	18	77105287	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999987958061382	0.764
18	74817243	C	G	18	77105287	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999987958061382	0.764
18	74817243	C	T	18	77105287	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999987958061382	0.76
18	74817244	T	A	18	77105288	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999989378869813	0.762
18	74817244	T	C	18	77105288	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999989378869813	0.766
18	74817244	T	G	18	77105288	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999989378869813	0.766
18	74817245	A	C	18	77105289	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.747047475111391	0.586
18	74817245	A	G	18	77105289	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.31120155993624E-4	0.01
18	74817245	A	T	18	77105289	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00138655247016913	0.154
18	74817246	A	C	18	77105290	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.6642687980852E-5	0.0
18	74817246	A	G	18	77105290	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.84710014342972E-5	0.002
18	74817246	A	T	18	77105290	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.36513401686003E-5	0.008
18	74817247	A	C	18	77105291	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0421161388844224	0.39
18	74817247	A	G	18	77105291	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0114585380717029	0.194
18	74817247	A	T	18	77105291	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0335444850483129	0.364
18	74817248	A	C	18	77105292	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0086372049402567	0.166
18	74817248	A	G	18	77105292	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.85721425770438E-4	0.046
18	74817248	A	T	18	77105292	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0108272704393763	0.148
18	74817249	G	A	18	77105293	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.10384643941283E-4	0.018
18	74817249	G	C	18	77105293	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00139216370159302	0.126
18	74817249	G	T	18	77105293	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00107081012575683	0.122
18	74817250	A	C	18	77105294	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.89491474512494E-4	0.016
18	74817250	A	G	18	77105294	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.65190043431029E-5	0.0
18	74817250	A	T	18	77105294	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.18369526939002E-4	0.004
18	74817251	G	A	18	77105295	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.85067506468787E-5	0.002
18	74817251	G	C	18	77105295	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.50027619225905E-4	0.012
18	74817251	G	T	18	77105295	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.01092809435349E-4	0.006
18	74817252	A	C	18	77105296	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.94753219072328E-4	0.128
18	74817252	A	G	18	77105296	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.25999488977959E-4	0.0
18	74817252	A	T	18	77105296	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00134620192086746	0.078
18	74817253	A	C	18	77105297	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00674416635036328	0.324
18	74817253	A	G	18	77105297	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00132633398648563	0.092
18	74817253	A	T	18	77105297	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0129860312050442	0.348
18	74817254	A	C	18	77105298	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.29307400565076E-4	0.066
18	74817254	A	G	18	77105298	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.55833475047708E-5	0.008
18	74817254	A	T	18	77105298	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.28109187910013E-4	0.056
18	74839238	A	C	18	77127282	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.51087052086014E-4	0.03
18	74839238	A	G	18	77127282	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.51087052086014E-4	0.03
18	74839238	A	T	18	77127282	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.37953350836995E-4	0.03
18	74839239	G	A	18	77127283	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.31929338280547E-5	0.004
18	74839239	G	C	18	77127283	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.07620641825897E-5	0.0
18	74839239	G	T	18	77127283	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.31929338280547E-5	0.0
18	74839240	G	A	18	77127284	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.52173701430229E-5	0.006
18	74839240	G	C	18	77127284	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.48367148474546E-5	0.002
18	74839240	G	T	18	77127284	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.48367148474546E-5	0.002
18	74839241	A	C	18	77127285	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.4243997895107E-5	0.008
18	74839241	A	G	18	77127285	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.4243997895107E-5	0.008
18	74839241	A	T	18	77127285	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.4243997895107E-5	0.02
18	74839242	T	A	18	77127286	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.63360899965148E-5	0.004
18	74839242	T	C	18	77127286	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.52173701430229E-5	0.008
18	74839242	T	G	18	77127286	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.52173701430229E-5	0.01
18	74839243	C	A	18	77127287	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.18514214212084E-4	0.092
18	74839243	C	G	18	77127287	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.18514214212084E-4	0.08
18	74839243	C	T	18	77127287	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.18514214212084E-4	0.138
18	74839244	A	C	18	77127288	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	6.37953350836995E-4	0.03
18	74839244	A	G	18	77127288	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	6.37953350836995E-4	0.03
18	74839244	A	T	18	77127288	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	6.37953350836995E-4	0.028
18	74839245	C	A	18	77127289	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	2.45277156108894E-5	0.0
18	74839245	C	G	18	77127289	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	2.45277156108894E-5	0.0
18	74839245	C	T	18	77127289	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	3.78864525412067E-5	0.022
18	74839246	C	A	18	77127290	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	3.52173701430229E-5	0.006
18	74839246	C	G	18	77127290	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	3.52173701430229E-5	0.008
18	74839246	C	T	18	77127290	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	3.52173701430229E-5	0.008
18	74839247	T	A	18	77127291	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	2.63360899965148E-5	0.002
18	74839247	T	C	18	77127291	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	2.63360899965148E-5	0.004
18	74839247	T	G	18	77127291	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	2.63360899965148E-5	0.004
18	74839248	T	A	18	77127292	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	6.37953350836995E-4	0.028
18	74839248	T	C	18	77127292	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	6.37953350836995E-4	0.03
18	74839248	T	G	18	77127292	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	6.37953350836995E-4	0.028
18	74839834	G	A	18	77127878	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.81456590373184E-4	0.064
18	74839834	G	C	18	77127878	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.81456590373184E-4	0.04
18	74839834	G	T	18	77127878	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	4.81456590373184E-4	0.044
18	74839835	G	A	18	77127879	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.26718658278921E-5	0.004
18	74839835	G	C	18	77127879	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.26718658278921E-5	0.002
18	74839835	G	T	18	77127879	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.26718658278921E-5	0.002
18	74839836	C	A	18	77127880	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.37501361942679E-5	0.002
18	74839836	C	G	18	77127880	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.37501361942679E-5	0.002
18	74839836	C	T	18	77127880	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.48367148474546E-5	0.0
18	74839837	A	C	18	77127881	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.71486889510802E-5	0.002
18	74839837	A	G	18	77127881	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.71486889510802E-5	0.002
18	74839837	A	T	18	77127881	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.42544334184685E-5	0.008
18	74839838	A	C	18	77127882	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.95735775412773E-5	0.002
18	74839838	A	G	18	77127882	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.95735775412773E-5	0.002
18	74839838	A	T	18	77127882	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.95735775412773E-5	0.002
18	74839839	T	A	18	77127883	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.4243997895107E-5	0.008
18	74839839	T	C	18	77127883	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.4243997895107E-5	0.01
18	74839839	T	G	18	77127883	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.4243997895107E-5	0.01
18	74839840	A	C	18	77127884	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74839840	A	G	18	77127884	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74839840	A	T	18	77127884	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	1.58927937202005E-5	0.002
18	74839841	C	A	18	77127885	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	1.99153316237132E-5	0.0
18	74839841	C	G	18	77127885	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	1.99153316237132E-5	0.0
18	74839841	C	T	18	77127885	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	1.99153316237132E-5	0.0
18	74839842	C	A	18	77127886	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	3.78205327723092E-5	0.004
18	74839842	C	G	18	77127886	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	3.78205327723092E-5	0.004
18	74839842	C	T	18	77127886	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	3.78205327723092E-5	0.006
18	74839843	A	C	18	77127887	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	8.24824353344448E-5	0.002
18	74839843	A	G	18	77127887	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	8.24824353344448E-5	0.002
18	74839843	A	T	18	77127887	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	8.24824353344448E-5	0.002
18	74839844	A	C	18	77127888	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	7.14374346167069E-5	0.002
18	74839844	A	G	18	77127888	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	7.14374346167069E-5	0.002
18	74839844	A	T	18	77127888	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	7.14374346167069E-5	0.002
18	74843487	A	C	18	77131531	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.54583771157E-5	0.002
18	74843487	A	G	18	77131531	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	8.64905445396362E-5	0.0
18	74843487	A	T	18	77131531	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.54583771157E-5	0.0
18	74843488	T	A	18	77131532	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.05808194911997E-5	0.006
18	74843488	T	C	18	77131532	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.76375603973572E-5	0.002
18	74843488	T	G	18	77131532	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.76375603973572E-5	0.004
18	74843489	T	A	18	77131533	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.69439264402225E-5	0.002
18	74843489	T	C	18	77131533	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.69439264402225E-5	0.002
18	74843489	T	G	18	77131533	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	5.69439264402225E-5	0.002
18	74843490	C	A	18	77131534	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.47413882681639E-5	0.0
18	74843490	C	G	18	77131534	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.47413882681639E-5	0.0
18	74843490	C	T	18	77131534	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	6.47413882681639E-5	0.0
18	74843491	T	A	18	77131535	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	3.36057955275112E-5	0.0
18	74843491	T	C	18	77131535	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.33815804894828E-5	0.0
18	74843491	T	G	18	77131535	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.33815804894828E-5	0.0
18	74843492	C	A	18	77131536	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.62994498559915E-5	0.002
18	74843492	C	G	18	77131536	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.62994498559915E-5	0.002
18	74843492	C	T	18	77131536	n	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	7.62994498559915E-5	0.002
18	74843493	A	C	18	77131537	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	2.82827935381688E-5	0.002
18	74843493	A	G	18	77131537	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	2.82827935381688E-5	0.002
18	74843493	A	T	18	77131537	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	2.82827935381688E-5	0.0
18	74843494	C	A	18	77131538	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	9.76745563467278E-5	0.008
18	74843494	C	G	18	77131538	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	9.76745563467278E-5	0.006
18	74843494	C	T	18	77131538	n	y	intronic	MBP	.	.	splicing	ENSG00000197971	.	.	9.76745563467278E-5	0.086
18	74843495	G	A	18	77131539	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	8.3500733371869E-5	0.0
18	74843495	G	C	18	77131539	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.11657407965104E-4	0.008
18	74843495	G	T	18	77131539	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	8.3500733371869E-5	0.012
18	74843496	T	A	18	77131540	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	5.69439264402225E-5	0.0
18	74843496	T	C	18	77131540	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	5.69439264402225E-5	0.0
18	74843496	T	G	18	77131540	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	5.69439264402225E-5	0.0
18	74843497	T	A	18	77131541	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.2718742888798E-4	0.004
18	74843497	T	C	18	77131541	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.81532097565074E-4	0.002
18	74843497	T	G	18	77131541	n	y	intronic	MBP	.	.	UTR5	ENSG00000197971	.	.	1.81532097565074E-4	0.002
18	74844528	T	A	18	77132572	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00207908110082764	0.01
18	74844528	T	C	18	77132572	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00431672346632518	0.062
18	74844528	T	G	18	77132572	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00211550556190425	0.026
18	74844529	C	A	18	77132573	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	9.27292611804425E-4	0.054
18	74844529	C	G	18	77132573	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.0041339803303572	0.036
18	74844529	C	T	18	77132573	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00368121833253515	0.02
18	74844530	A	C	18	77132574	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.118302977895518	0.398
18	74844530	A	G	18	77132574	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.183544683958348	0.31
18	74844530	A	T	18	77132574	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.371717506831741	0.404
18	74844531	C	A	18	77132575	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999973396665559	0.956
18	74844531	C	G	18	77132575	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999984117435872	0.988
18	74844531	C	T	18	77132575	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.999980358715201	0.99
18	74844532	C	A	18	77132576	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	2.29241625781686E-4	0.152
18	74844532	C	G	18	77132576	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.4230602488536E-4	0.228
18	74844532	C	T	18	77132576	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	1.00896048831489E-4	0.028
18	74844533	C	A	18	77132577	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.585331710164369	0.61
18	74844533	C	G	18	77132577	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.632298260350021	0.628
18	74844533	C	T	18	77132577	y	y	intronic	MBP	.	.	intronic	ENSG00000197971	.	.	0.00109177077029076	0.138
18	74844534	A	C	18	77132578	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999955782384167	0.936
18	74844534	A	G	18	77132578	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999901814687724	0.94
18	74844534	A	T	18	77132578	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999955782384167	0.926
18	74844535	C	A	18	77132579	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999955782384167	0.936
18	74844535	C	G	18	77132579	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999955782384167	0.936
18	74844535	C	T	18	77132579	y	y	splicing	MBP	.	.	splicing	ENSG00000197971	.	.	0.999955782384167	0.924
18	74844536	C	A	18	77132580	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.999963184497964	0.928
18	74844536	C	G	18	77132580	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.999976671470224	0.918
18	74844536	C	T	18	77132580	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.99994760555162	0.906
18	74844537	G	A	18	77132581	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.014220190282556	0.102
18	74844537	G	C	18	77132581	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.00842393845634126	0.106
18	74844537	G	T	18	77132581	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	5.53558309356697E-4	0.184
18	74844538	G	A	18	77132582	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.482367224818365	0.516
18	74844538	G	C	18	77132582	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.00968779752797001	0.124
18	74844538	G	T	18	77132582	y	y	UTR5	MBP	.	.	UTR5	ENSG00000197971	.	.	0.0027735231867231	0.132
18	74963168	A	C	18	77251212	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon1:c.A664C:p.K222Q;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon1:c.A664C:p.K222Q;	0.196479809945259	0.446
18	74963168	A	G	18	77251212	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon1:c.A664G:p.K222E;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon1:c.A664G:p.K222E;	0.514328583928461	0.434
18	74963168	A	T	18	77251212	y	y	exonic	GALR1	stopgain SNV	GALR1:NM_001480:exon1:c.A664T:p.K222X;	exonic	ENSG00000166573	stopgain SNV	ENSG00000166573:ENST00000299727:exon1:c.A664T:p.K222X;	0.997743350172142	0.828
18	74963169	A	C	18	77251213	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon1:c.A665C:p.K222T;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon1:c.A665C:p.K222T;	0.999232891855367	0.968
18	74963169	A	G	18	77251213	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon1:c.A665G:p.K222R;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon1:c.A665G:p.K222R;	0.994545853044624	0.89
18	74963169	A	T	18	77251213	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon1:c.A665T:p.K222M;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon1:c.A665T:p.K222M;	0.999851191028104	0.994
18	74963170	G	A	18	77251214	y	y	exonic	GALR1	synonymous SNV	GALR1:NM_001480:exon1:c.G666A:p.K222K;	exonic	ENSG00000166573	synonymous SNV	ENSG00000166573:ENST00000299727:exon1:c.G666A:p.K222K;	0.999981434332543	0.992
18	74963170	G	C	18	77251214	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon1:c.G666C:p.K222N;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon1:c.G666C:p.K222N;	0.99999350491048	0.956
18	74963170	G	T	18	77251214	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon1:c.G666T:p.K222N;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon1:c.G666T:p.K222N;	0.99998777489758	0.994
18	74963171	G	A	18	77251215	y	y	splicing	GALR1(NM_001480:exon1:c.666+1G>A)	.	.	splicing	ENSG00000166573(ENST00000299727:exon1:c.666+1G>A)	.	.	0.999975355715557	0.954
18	74963171	G	C	18	77251215	y	y	splicing	GALR1(NM_001480:exon1:c.666+1G>C)	.	.	splicing	ENSG00000166573(ENST00000299727:exon1:c.666+1G>C)	.	.	0.999974496076932	0.944
18	74963171	G	T	18	77251215	y	y	splicing	GALR1(NM_001480:exon1:c.666+1G>T)	.	.	splicing	ENSG00000166573(ENST00000299727:exon1:c.666+1G>T)	.	.	0.999975355715557	0.956
18	74963172	T	A	18	77251216	y	y	splicing	GALR1(NM_001480:exon1:c.666+2T>A)	.	.	splicing	ENSG00000166573(ENST00000299727:exon1:c.666+2T>A)	.	.	0.9999822588092	0.9
18	74963172	T	C	18	77251216	y	y	splicing	GALR1(NM_001480:exon1:c.666+2T>C)	.	.	splicing	ENSG00000166573(ENST00000299727:exon1:c.666+2T>C)	.	.	0.999967779294911	0.886
18	74963172	T	G	18	77251216	y	y	splicing	GALR1(NM_001480:exon1:c.666+2T>G)	.	.	splicing	ENSG00000166573(ENST00000299727:exon1:c.666+2T>G)	.	.	0.999989408297863	0.91
18	74963173	G	A	18	77251217	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	4.58184604593128E-4	0.148
18	74963173	G	C	18	77251217	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.996138346461035	0.754
18	74963173	G	T	18	77251217	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.952062717820732	0.744
18	74963174	C	A	18	77251218	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	4.14366701451955E-5	0.058
18	74963174	C	G	18	77251218	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.41911575069652E-4	0.072
18	74963174	C	T	18	77251218	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.00251216555624711	0.11
18	74963175	A	C	18	77251219	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	7.86359013307097E-4	0.044
18	74963175	A	G	18	77251219	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.57677636584827E-4	0.004
18	74963175	A	T	18	77251219	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.47587894251657E-4	0.014
18	74963176	C	A	18	77251220	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	6.05784262246802E-4	0.116
18	74963176	C	G	18	77251220	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.13691232975579E-5	0.002
18	74963176	C	T	18	77251220	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.27219349862041E-5	0.002
18	74963177	G	A	18	77251221	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.01763221548259E-4	0.002
18	74963177	G	C	18	77251221	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.20952489285461E-4	0.002
18	74963177	G	T	18	77251221	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.76955626029872E-4	0.014
18	74963178	C	A	18	77251222	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.57966391631852E-5	0.0
18	74963178	C	G	18	77251222	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.44160003140102E-5	0.0
18	74963178	C	T	18	77251222	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.72204626140492E-5	0.0
18	74968102	T	A	18	77256146	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.999875917781264	0.978
18	74968102	T	C	18	77256146	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.10959593925938E-4	0.008
18	74968102	T	G	18	77256146	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.253134878132764	0.414
18	74968103	G	A	18	77256147	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	9.58167724158327E-5	0.054
18	74968103	G	C	18	77256147	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.49349783702919E-5	0.0
18	74968103	G	T	18	77256147	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.67884181909475E-5	0.0
18	74968104	T	A	18	77256148	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.999961989032027	0.962
18	74968104	T	C	18	77256148	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.00115101785234125	0.09
18	74968104	T	G	18	77256148	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.719699605908946	0.498
18	74968105	G	A	18	77256149	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.41858250436493E-4	0.044
18	74968105	G	C	18	77256149	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.10329433318209E-4	0.004
18	74968105	G	T	18	77256149	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.00956759274151E-4	0.012
18	74968106	T	A	18	77256150	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.35174030849072	0.372
18	74968106	T	C	18	77256150	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	4.85242243900456E-4	0.032
18	74968106	T	G	18	77256150	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.0359799003336937	0.328
18	74968107	C	A	18	77256151	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.26873607044929E-4	0.01
18	74968107	C	G	18	77256151	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.35794264312965E-4	0.018
18	74968107	C	T	18	77256151	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.28183691496918E-5	0.0
18	74968108	T	A	18	77256152	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.963724522254662	0.69
18	74968108	T	C	18	77256152	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.00275316828199045	0.072
18	74968108	T	G	18	77256152	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.976049991576768	0.718
18	74968109	T	A	18	77256153	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.899574402309472	0.468
18	74968109	T	C	18	77256153	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.00101272184007179	0.084
18	74968109	T	G	18	77256153	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.869775527463074	0.438
18	74968110	T	A	18	77256154	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.70592315308761E-5	0.004
18	74968110	T	C	18	77256154	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.48167105487574E-5	0.0
18	74968110	T	G	18	77256154	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	4.36006850440844E-5	0.0
18	74968111	C	A	18	77256155	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.87676074928144	0.62
18	74968111	C	G	18	77256155	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.999383915240027	0.944
18	74968111	C	T	18	77256155	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.00882694655830096	0.254
18	74968112	A	C	18	77256156	y	y	splicing	GALR1(NM_001480:exon2:c.667-2A>C)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.667-2A>C)	.	.	0.999990611969007	0.898
18	74968112	A	G	18	77256156	y	y	splicing	GALR1(NM_001480:exon2:c.667-2A>G)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.667-2A>G)	.	.	0.999990611969007	0.898
18	74968112	A	T	18	77256156	y	y	splicing	GALR1(NM_001480:exon2:c.667-2A>T)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.667-2A>T)	.	.	0.999988390207502	0.906
18	74968113	G	A	18	77256157	y	y	splicing	GALR1(NM_001480:exon2:c.667-1G>A)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.667-1G>A)	.	.	0.999964896440643	0.938
18	74968113	G	C	18	77256157	y	y	splicing	GALR1(NM_001480:exon2:c.667-1G>C)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.667-1G>C)	.	.	0.999951957019574	0.88
18	74968113	G	T	18	77256157	y	y	splicing	GALR1(NM_001480:exon2:c.667-1G>T)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.667-1G>T)	.	.	0.999964896440643	0.936
18	74968114	G	A	18	77256158	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.G667A:p.V223I;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.G667A:p.V223I;	0.463579168142562	0.494
18	74968114	G	C	18	77256158	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.G667C:p.V223L;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.G667C:p.V223L;	0.985948097070583	0.92
18	74968114	G	T	18	77256158	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.G667T:p.V223F;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.G667T:p.V223F;	0.999535723057592	0.966
18	74968115	T	A	18	77256159	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.T668A:p.V223D;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.T668A:p.V223D;	0.0867048360118235	0.328
18	74968115	T	C	18	77256159	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.T668C:p.V223A;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.T668C:p.V223A;	0.0144116005099575	0.15
18	74968115	T	G	18	77256159	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.T668G:p.V223G;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.T668G:p.V223G;	0.0107713432810904	0.094
18	74968177	A	C	18	77256221	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.A730C:p.K244Q;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.A730C:p.K244Q;	0.488741743735977	0.604
18	74968177	A	G	18	77256221	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.A730G:p.K244E;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.A730G:p.K244E;	0.0594315283187981	0.34
18	74968177	A	T	18	77256221	y	y	exonic	GALR1	stopgain SNV	GALR1:NM_001480:exon2:c.A730T:p.K244X;	exonic	ENSG00000166573	stopgain SNV	ENSG00000166573:ENST00000299727:exon2:c.A730T:p.K244X;	0.956052842865158	0.672
18	74968178	A	C	18	77256222	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.A731C:p.K244T;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.A731C:p.K244T;	0.999623040952356	0.99
18	74968178	A	G	18	77256222	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.A731G:p.K244R;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.A731G:p.K244R;	0.999793887768407	0.994
18	74968178	A	T	18	77256222	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.A731T:p.K244M;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.A731T:p.K244M;	0.999824605292203	0.96
18	74968179	G	A	18	77256223	y	y	exonic	GALR1	synonymous SNV	GALR1:NM_001480:exon2:c.G732A:p.K244K;	exonic	ENSG00000166573	synonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.G732A:p.K244K;	0.999979733551425	1.0
18	74968179	G	C	18	77256223	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.G732C:p.K244N;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.G732C:p.K244N;	0.999996018335335	0.984
18	74968179	G	T	18	77256223	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon2:c.G732T:p.K244N;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon2:c.G732T:p.K244N;	0.999989622619037	0.954
18	74968180	G	A	18	77256224	y	y	splicing	GALR1(NM_001480:exon2:c.732+1G>A)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.732+1G>A)	.	.	0.999986675681007	0.934
18	74968180	G	C	18	77256224	y	y	splicing	GALR1(NM_001480:exon2:c.732+1G>C)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.732+1G>C)	.	.	0.999986675681007	0.934
18	74968180	G	T	18	77256224	y	y	splicing	GALR1(NM_001480:exon2:c.732+1G>T)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.732+1G>T)	.	.	0.999986675681007	0.934
18	74968181	T	A	18	77256225	y	y	splicing	GALR1(NM_001480:exon2:c.732+2T>A)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.732+2T>A)	.	.	0.999990155693597	0.926
18	74968181	T	C	18	77256225	y	y	splicing	GALR1(NM_001480:exon2:c.732+2T>C)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.732+2T>C)	.	.	0.978494574298029	0.596
18	74968181	T	G	18	77256225	y	y	splicing	GALR1(NM_001480:exon2:c.732+2T>G)	.	.	splicing	ENSG00000166573(ENST00000299727:exon2:c.732+2T>G)	.	.	0.999990155693597	0.926
18	74968182	A	C	18	77256226	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.999956734886901	0.944
18	74968182	A	G	18	77256226	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.997127059665771	0.808
18	74968182	A	T	18	77256226	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.999953169199181	0.87
18	74968183	A	C	18	77256227	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.789631653294601	0.434
18	74968183	A	G	18	77256227	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.97110515594471	0.614
18	74968183	A	T	18	77256227	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.622967851871419	0.412
18	74968184	T	A	18	77256228	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	7.22305542444944E-5	0.008
18	74968184	T	C	18	77256228	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.95815908076113E-5	0.002
18	74968184	T	G	18	77256228	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	9.61816807784951E-5	0.12
18	74968185	G	A	18	77256229	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	7.60794938763101E-5	0.01
18	74968185	G	C	18	77256229	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.19006562540623E-5	0.066
18	74968185	G	T	18	77256229	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.97812769381855E-5	0.0
18	74968186	A	C	18	77256230	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.35216358785191E-5	0.0
18	74968186	A	G	18	77256230	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.56028652310044E-5	0.002
18	74968186	A	T	18	77256230	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.50004349881047E-5	0.026
18	74968187	T	A	18	77256231	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.30477579161392E-5	0.0
18	74968187	T	C	18	77256231	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.26501254653793E-5	0.0
18	74968187	T	G	18	77256231	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.30477579161392E-5	0.0
18	74980529	C	A	18	77268573	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	9.41221498245691E-5	0.004
18	74980529	C	G	18	77268573	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	9.41221498245691E-5	0.01
18	74980529	C	T	18	77268573	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.58859685870378E-5	0.01
18	74980530	T	A	18	77268574	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	7.02534435793954E-5	0.068
18	74980530	T	C	18	77268574	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.55105694264194E-5	0.0
18	74980530	T	G	18	77268574	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	6.33166837248005E-5	0.062
18	74980531	T	A	18	77268575	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	7.07199314679094E-5	0.018
18	74980531	T	C	18	77268575	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.59130925874913E-5	0.0
18	74980531	T	G	18	77268575	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.6844306205654E-5	0.038
18	74980532	C	A	18	77268576	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.46825932443878E-5	0.0
18	74980532	C	G	18	77268576	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.46825932443878E-5	0.01
18	74980532	C	T	18	77268576	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.74219733247844E-5	0.02
18	74980533	T	A	18	77268577	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.248207835706E-5	0.008
18	74980533	T	C	18	77268577	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	8.18123103824664E-6	0.002
18	74980533	T	G	18	77268577	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.64002010031233E-5	0.014
18	74980534	T	A	18	77268578	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.11014015211658E-5	0.004
18	74980534	T	C	18	77268578	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	7.33637624416357E-6	0.0
18	74980534	T	G	18	77268578	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.11014015211658E-5	0.012
18	74980535	T	A	18	77268579	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	1.9873679989402E-4	0.08
18	74980535	T	C	18	77268579	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.93217972943228E-5	0.004
18	74980535	T	G	18	77268579	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.75114931170516E-4	0.088
18	74980536	T	A	18	77268580	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.63051294610541E-4	0.118
18	74980536	T	C	18	77268580	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.75882820021462E-5	0.01
18	74980536	T	G	18	77268580	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	3.13033460764788E-4	0.12
18	74980537	C	A	18	77268581	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	4.12295967953254E-5	0.0
18	74980537	C	G	18	77268581	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.64274376477733E-5	0.002
18	74980537	C	T	18	77268581	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.08501896066148E-5	0.0
18	74980538	T	A	18	77268582	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	2.34263753417292E-4	0.062
18	74980538	T	C	18	77268582	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	5.51501636295322E-5	0.008
18	74980538	T	G	18	77268582	y	y	intronic	GALR1	.	.	intronic	ENSG00000166573	.	.	0.0132251686333617	0.298
18	74980539	A	C	18	77268583	y	y	splicing	GALR1(NM_001480:exon3:c.733-2A>C)	.	.	splicing	ENSG00000166573(ENST00000299727:exon3:c.733-2A>C)	.	.	0.999982151912279	0.892
18	74980539	A	G	18	77268583	y	y	splicing	GALR1(NM_001480:exon3:c.733-2A>G)	.	.	splicing	ENSG00000166573(ENST00000299727:exon3:c.733-2A>G)	.	.	0.999982151912279	0.89
18	74980539	A	T	18	77268583	y	y	splicing	GALR1(NM_001480:exon3:c.733-2A>T)	.	.	splicing	ENSG00000166573(ENST00000299727:exon3:c.733-2A>T)	.	.	0.999982151912279	0.898
18	74980540	G	A	18	77268584	y	y	splicing	GALR1(NM_001480:exon3:c.733-1G>A)	.	.	splicing	ENSG00000166573(ENST00000299727:exon3:c.733-1G>A)	.	.	0.999958812450268	0.936
18	74980540	G	C	18	77268584	y	y	splicing	GALR1(NM_001480:exon3:c.733-1G>C)	.	.	splicing	ENSG00000166573(ENST00000299727:exon3:c.733-1G>C)	.	.	0.99996748057446	0.898
18	74980540	G	T	18	77268584	y	y	splicing	GALR1(NM_001480:exon3:c.733-1G>T)	.	.	splicing	ENSG00000166573(ENST00000299727:exon3:c.733-1G>T)	.	.	0.999945530492988	0.9
18	74980541	A	C	18	77268585	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon3:c.A733C:p.T245P;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon3:c.A733C:p.T245P;	0.134435959286432	0.412
18	74980541	A	G	18	77268585	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon3:c.A733G:p.T245A;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon3:c.A733G:p.T245A;	7.20061176412766E-4	0.018
18	74980541	A	T	18	77268585	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon3:c.A733T:p.T245S;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon3:c.A733T:p.T245S;	0.0285311191874597	0.272
18	74980542	C	A	18	77268586	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon3:c.C734A:p.T245N;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon3:c.C734A:p.T245N;	0.863770060609866	0.616
18	74980542	C	G	18	77268586	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon3:c.C734G:p.T245S;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon3:c.C734G:p.T245S;	0.0446433437205073	0.286
18	74980542	C	T	18	77268586	y	y	exonic	GALR1	nonsynonymous SNV	GALR1:NM_001480:exon3:c.C734T:p.T245I;	exonic	ENSG00000166573	nonsynonymous SNV	ENSG00000166573:ENST00000299727:exon3:c.C734T:p.T245I;	0.00658327445953612	0.03
18	76740354	A	C	18	78980354	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon1:c.A80C:p.H27P;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.A80C:p.H27P;ENSG00000256463:ENST00000537592:exon1:c.A80C:p.H27P;	1.85654811131346E-4	0.056
18	76740354	A	G	18	78980354	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon1:c.A80G:p.H27R;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.A80G:p.H27R;ENSG00000256463:ENST00000537592:exon1:c.A80G:p.H27R;	4.66053343657037E-4	0.102
18	76740354	A	T	18	78980354	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon1:c.A80T:p.H27L;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.A80T:p.H27L;ENSG00000256463:ENST00000537592:exon1:c.A80T:p.H27L;	0.00455943400419865	0.18
18	76740355	C	A	18	78980355	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon1:c.C81A:p.H27Q;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.C81A:p.H27Q;ENSG00000256463:ENST00000537592:exon1:c.C81A:p.H27Q;	2.20591088528493E-4	0.116
18	76740355	C	G	18	78980355	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon1:c.C81G:p.H27Q;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.C81G:p.H27Q;ENSG00000256463:ENST00000537592:exon1:c.C81G:p.H27Q;	0.00126458377312563	0.01
18	76740355	C	T	18	78980355	y	y	exonic	SALL3	synonymous SNV	SALL3:NM_171999:exon1:c.C81T:p.H27H;	exonic	ENSG00000256463	synonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.C81T:p.H27H;ENSG00000256463:ENST00000537592:exon1:c.C81T:p.H27H;	0.00147217731002681	0.1
18	76740356	G	A	18	78980356	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon1:c.G82A:p.A28T;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.G82A:p.A28T;ENSG00000256463:ENST00000537592:exon1:c.G82A:p.A28T;	0.999968680039297	0.996
18	76740356	G	C	18	78980356	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon1:c.G82C:p.A28P;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.G82C:p.A28P;ENSG00000256463:ENST00000537592:exon1:c.G82C:p.A28P;	0.999982553026505	0.986
18	76740356	G	T	18	78980356	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon1:c.G82T:p.A28S;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon1:c.G82T:p.A28S;ENSG00000256463:ENST00000537592:exon1:c.G82T:p.A28S;	0.999600892415243	0.92
18	76740357	G	A	18	78980357	y	y	splicing	SALL3(NM_171999:exon1:c.82+1G>A)	.	.	splicing	ENSG00000256463(ENST00000575389:exon1:c.82+1G>A;ENST00000537592:exon1:c.82+1G>A)	.	.	0.999974440340924	0.844
18	76740357	G	C	18	78980357	y	y	splicing	SALL3(NM_171999:exon1:c.82+1G>C)	.	.	splicing	ENSG00000256463(ENST00000575389:exon1:c.82+1G>C;ENST00000537592:exon1:c.82+1G>C)	.	.	0.999964172958015	0.822
18	76740357	G	T	18	78980357	y	y	splicing	SALL3(NM_171999:exon1:c.82+1G>T)	.	.	splicing	ENSG00000256463(ENST00000575389:exon1:c.82+1G>T;ENST00000537592:exon1:c.82+1G>T)	.	.	0.999973548773168	0.826
18	76740358	T	A	18	78980358	y	y	splicing	SALL3(NM_171999:exon1:c.82+2T>A)	.	.	splicing	ENSG00000256463(ENST00000575389:exon1:c.82+2T>A;ENST00000537592:exon1:c.82+2T>A)	.	.	0.999960807249974	0.936
18	76740358	T	C	18	78980358	y	y	splicing	SALL3(NM_171999:exon1:c.82+2T>C)	.	.	splicing	ENSG00000256463(ENST00000575389:exon1:c.82+2T>C;ENST00000537592:exon1:c.82+2T>C)	.	.	0.999948700965582	0.948
18	76740358	T	G	18	78980358	y	y	splicing	SALL3(NM_171999:exon1:c.82+2T>G)	.	.	splicing	ENSG00000256463(ENST00000575389:exon1:c.82+2T>G;ENST00000537592:exon1:c.82+2T>G)	.	.	0.999961168610083	0.936
18	76740359	G	A	18	78980359	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	1.38642256466366E-4	0.004
18	76740359	G	C	18	78980359	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.928314819815992	0.676
18	76740359	G	T	18	78980359	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.957110499131939	0.624
18	76740360	A	C	18	78980360	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.808442020991156	0.482
18	76740360	A	G	18	78980360	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.994143544321356	0.684
18	76740360	A	T	18	78980360	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.993177068513725	0.744
18	76740361	G	A	18	78980361	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.999347314448448	0.912
18	76740361	G	C	18	78980361	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.999580573716455	0.846
18	76740361	G	T	18	78980361	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.999916161515825	0.948
18	76740362	G	A	18	78980362	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	7.95264886136447E-4	0.01
18	76740362	G	C	18	78980362	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	9.67500382223435E-4	0.028
18	76740362	G	T	18	78980362	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	2.91455056134442E-4	0.006
18	76740363	G	A	18	78980363	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	4.63211972065805E-4	0.0
18	76740363	G	C	18	78980363	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	5.66159320369539E-4	0.024
18	76740363	G	T	18	78980363	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	3.55183353697786E-4	0.0
18	76740364	C	A	18	78980364	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	2.67481699012491E-4	0.002
18	76740364	C	G	18	78980364	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	2.10680505896474E-4	0.008
18	76740364	C	T	18	78980364	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	2.40075485514483E-4	0.002
18	76752062	T	A	18	78992062	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.43354106029341	0.53
18	76752062	T	C	18	78992062	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	9.97908225387871E-4	0.104
18	76752062	T	G	18	78992062	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.395524459841021	0.5
18	76752063	T	A	18	78992063	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.988083531857888	0.798
18	76752063	T	C	18	78992063	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	2.84939786040088E-4	0.014
18	76752063	T	G	18	78992063	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.0523711176790843	0.246
18	76752064	G	A	18	78992064	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.998089076847985	0.868
18	76752064	G	C	18	78992064	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	5.29173063642901E-4	0.028
18	76752064	G	T	18	78992064	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	3.42669885500931E-4	0.02
18	76752065	G	A	18	78992065	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	2.91730167702532E-4	0.026
18	76752065	G	C	18	78992065	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	9.63065284904611E-6	0.0
18	76752065	G	T	18	78992065	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	1.67944982512943E-5	0.0
18	76752066	T	A	18	78992066	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.265267966971791	0.358
18	76752066	T	C	18	78992066	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	3.04669806438593E-4	0.028
18	76752066	T	G	18	78992066	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.0733817909970589	0.334
18	76752067	C	A	18	78992067	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.00141954772734901	0.036
18	76752067	C	G	18	78992067	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	1.06273569890914E-4	0.006
18	76752067	C	T	18	78992067	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	3.28183691496918E-5	0.0
18	76752068	T	A	18	78992068	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.246985073095676	0.47
18	76752068	T	C	18	78992068	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	8.61263109320504E-5	0.052
18	76752068	T	G	18	78992068	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.0467326352616303	0.414
18	76752069	T	A	18	78992069	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.998346744477676	0.904
18	76752069	T	C	18	78992069	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	1.2071934507482E-4	0.024
18	76752069	T	G	18	78992069	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.208824923756098	0.352
18	76752070	G	A	18	78992070	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	1.96489585450979E-5	0.014
18	76752070	G	C	18	78992070	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	2.43558268014122E-5	0.114
18	76752070	G	T	18	78992070	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	2.74511052342066E-5	0.05
18	76752071	C	A	18	78992071	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.956595095272117	0.608
18	76752071	C	G	18	78992071	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	0.999437914788292	0.9
18	76752071	C	T	18	78992071	y	y	intronic	SALL3	.	.	UTR5	ENSG00000256463	.	.	3.75316626576129E-4	0.07
18	76752072	A	C	18	78992072	y	y	splicing	SALL3(NM_171999:exon2:c.83-2A>C)	.	.	splicing	ENSG00000256463(ENST00000575389:exon2:c.83-2A>C;ENST00000537592:exon2:c.83-2A>C)	.	.	0.999969255906173	0.864
18	76752072	A	G	18	78992072	y	y	splicing	SALL3(NM_171999:exon2:c.83-2A>G)	.	.	splicing	ENSG00000256463(ENST00000575389:exon2:c.83-2A>G;ENST00000537592:exon2:c.83-2A>G)	.	.	0.999969255906173	0.856
18	76752072	A	T	18	78992072	y	y	splicing	SALL3(NM_171999:exon2:c.83-2A>T)	.	.	splicing	ENSG00000256463(ENST00000575389:exon2:c.83-2A>T;ENST00000537592:exon2:c.83-2A>T)	.	.	0.999972155025474	0.872
18	76752073	G	A	18	78992073	y	y	splicing	SALL3(NM_171999:exon2:c.83-1G>A)	.	.	splicing	ENSG00000256463(ENST00000575389:exon2:c.83-1G>A;ENST00000537592:exon2:c.83-1G>A)	.	.	0.99996748057446	0.904
18	76752073	G	C	18	78992073	y	y	splicing	SALL3(NM_171999:exon2:c.83-1G>C)	.	.	splicing	ENSG00000256463(ENST00000575389:exon2:c.83-1G>C;ENST00000537592:exon2:c.83-1G>C)	.	.	0.99996748057446	0.902
18	76752073	G	T	18	78992073	y	y	splicing	SALL3(NM_171999:exon2:c.83-1G>T)	.	.	splicing	ENSG00000256463(ENST00000575389:exon2:c.83-1G>T;ENST00000537592:exon2:c.83-1G>T)	.	.	0.99996748057446	0.902
18	76752074	C	A	18	78992074	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.C83A:p.A28D;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon2:c.C83A:p.A28D;ENSG00000256463:ENST00000537592:exon2:c.C83A:p.A28D;	3.70379627935615E-5	0.0
18	76752074	C	G	18	78992074	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.C83G:p.A28G;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon2:c.C83G:p.A28G;ENSG00000256463:ENST00000537592:exon2:c.C83G:p.A28G;	1.03516030425727E-4	0.104
18	76752074	C	T	18	78992074	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.C83T:p.A28V;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon2:c.C83T:p.A28V;ENSG00000256463:ENST00000537592:exon2:c.C83T:p.A28V;	4.81064716238988E-4	0.102
18	76752075	C	A	18	78992075	y	y	exonic	SALL3	synonymous SNV	SALL3:NM_171999:exon2:c.C84A:p.A28A;	exonic	ENSG00000256463	synonymous SNV	ENSG00000256463:ENST00000575389:exon2:c.C84A:p.A28A;ENSG00000256463:ENST00000537592:exon2:c.C84A:p.A28A;	1.50553338859432E-4	0.014
18	76752075	C	G	18	78992075	y	y	exonic	SALL3	synonymous SNV	SALL3:NM_171999:exon2:c.C84G:p.A28A;	exonic	ENSG00000256463	synonymous SNV	ENSG00000256463:ENST00000575389:exon2:c.C84G:p.A28A;ENSG00000256463:ENST00000537592:exon2:c.C84G:p.A28A;	7.20358021155847E-5	0.012
18	76752075	C	T	18	78992075	y	y	exonic	SALL3	synonymous SNV	SALL3:NM_171999:exon2:c.C84T:p.A28A;	exonic	ENSG00000256463	synonymous SNV	ENSG00000256463:ENST00000575389:exon2:c.C84T:p.A28A;ENSG00000256463:ENST00000537592:exon2:c.C84T:p.A28A;	2.49391329351199E-4	0.006
18	76755460	A	C	18	78995460	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.A3469C:p.K1157Q;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon3:c.A3253C:p.K1085Q;ENSG00000256463:ENST00000537592:exon2:c.A3469C:p.K1157Q;ENSG00000256463:ENST00000536229:exon2:c.A2854C:p.K952Q;	0.595284049429694	0.644
18	76755460	A	G	18	78995460	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.A3469G:p.K1157E;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon3:c.A3253G:p.K1085E;ENSG00000256463:ENST00000537592:exon2:c.A3469G:p.K1157E;ENSG00000256463:ENST00000536229:exon2:c.A2854G:p.K952E;	0.163581067439064	0.442
18	76755460	A	T	18	78995460	y	y	exonic	SALL3	stopgain SNV	SALL3:NM_171999:exon2:c.A3469T:p.K1157X;	exonic	ENSG00000256463	stopgain SNV	ENSG00000256463:ENST00000575389:exon3:c.A3253T:p.K1085X;ENSG00000256463:ENST00000537592:exon2:c.A3469T:p.K1157X;ENSG00000256463:ENST00000536229:exon2:c.A2854T:p.K952X;	0.920732339479029	0.608
18	76755461	A	C	18	78995461	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.A3470C:p.K1157T;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon3:c.A3254C:p.K1085T;ENSG00000256463:ENST00000537592:exon2:c.A3470C:p.K1157T;ENSG00000256463:ENST00000536229:exon2:c.A2855C:p.K952T;	0.565398628099233	0.662
18	76755461	A	G	18	78995461	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.A3470G:p.K1157R;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon3:c.A3254G:p.K1085R;ENSG00000256463:ENST00000537592:exon2:c.A3470G:p.K1157R;ENSG00000256463:ENST00000536229:exon2:c.A2855G:p.K952R;	0.857114871217778	0.622
18	76755461	A	T	18	78995461	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.A3470T:p.K1157M;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon3:c.A3254T:p.K1085M;ENSG00000256463:ENST00000537592:exon2:c.A3470T:p.K1157M;ENSG00000256463:ENST00000536229:exon2:c.A2855T:p.K952M;	0.567029166358448	0.524
18	76755462	G	A	18	78995462	y	y	exonic	SALL3	synonymous SNV	SALL3:NM_171999:exon2:c.G3471A:p.K1157K;	exonic	ENSG00000256463	synonymous SNV	ENSG00000256463:ENST00000575389:exon3:c.G3255A:p.K1085K;ENSG00000256463:ENST00000537592:exon2:c.G3471A:p.K1157K;ENSG00000256463:ENST00000536229:exon2:c.G2856A:p.K952K;	0.90889081682776	0.884
18	76755462	G	C	18	78995462	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G3471C:p.K1157N;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon3:c.G3255C:p.K1085N;ENSG00000256463:ENST00000537592:exon2:c.G3471C:p.K1157N;ENSG00000256463:ENST00000536229:exon2:c.G2856C:p.K952N;	0.996597313518431	0.87
18	76755462	G	T	18	78995462	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G3471T:p.K1157N;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon3:c.G3255T:p.K1085N;ENSG00000256463:ENST00000537592:exon2:c.G3471T:p.K1157N;ENSG00000256463:ENST00000536229:exon2:c.G2856T:p.K952N;	0.997752715829983	0.912
18	76755463	G	A	18	78995463	y	y	splicing	SALL3(NM_171999:exon2:c.3471+1G>A)	.	.	splicing	ENSG00000256463(ENST00000575389:exon3:c.3255+1G>A;ENST00000537592:exon2:c.3471+1G>A;ENST00000536229:exon2:c.2856+1G>A;ENST00000573324:exon2:c.449+1G>A)	.	.	0.999981760802075	0.944
18	76755463	G	C	18	78995463	y	y	splicing	SALL3(NM_171999:exon2:c.3471+1G>C)	.	.	splicing	ENSG00000256463(ENST00000575389:exon3:c.3255+1G>C;ENST00000537592:exon2:c.3471+1G>C;ENST00000536229:exon2:c.2856+1G>C;ENST00000573324:exon2:c.449+1G>C)	.	.	0.999981760802075	0.944
18	76755463	G	T	18	78995463	y	y	splicing	SALL3(NM_171999:exon2:c.3471+1G>T)	.	.	splicing	ENSG00000256463(ENST00000575389:exon3:c.3255+1G>T;ENST00000537592:exon2:c.3471+1G>T;ENST00000536229:exon2:c.2856+1G>T;ENST00000573324:exon2:c.449+1G>T)	.	.	0.999981760802075	0.944
18	76755464	T	A	18	78995464	y	y	splicing	SALL3(NM_171999:exon2:c.3471+2T>A)	.	.	splicing	ENSG00000256463(ENST00000575389:exon3:c.3255+2T>A;ENST00000537592:exon2:c.3471+2T>A;ENST00000536229:exon2:c.2856+2T>A;ENST00000573324:exon2:c.449+2T>A)	.	.	0.999986607513753	0.922
18	76755464	T	C	18	78995464	y	y	splicing	SALL3(NM_171999:exon2:c.3471+2T>C)	.	.	splicing	ENSG00000256463(ENST00000575389:exon3:c.3255+2T>C;ENST00000537592:exon2:c.3471+2T>C;ENST00000536229:exon2:c.2856+2T>C;ENST00000573324:exon2:c.449+2T>C)	.	.	0.984943611886664	0.568
18	76755464	T	G	18	78995464	y	y	splicing	SALL3(NM_171999:exon2:c.3471+2T>G)	.	.	splicing	ENSG00000256463(ENST00000575389:exon3:c.3255+2T>G;ENST00000537592:exon2:c.3471+2T>G;ENST00000536229:exon2:c.2856+2T>G;ENST00000573324:exon2:c.449+2T>G)	.	.	0.999986607513753	0.922
18	76755465	A	C	18	78995465	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.274965801895108	0.376
18	76755465	A	G	18	78995465	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.00229899037843815	0.08
18	76755465	A	T	18	78995465	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.509383488678705	0.374
18	76755466	A	C	18	78995466	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.904181208720009	0.58
18	76755466	A	G	18	78995466	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.865868373188832	0.59
18	76755466	A	T	18	78995466	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.820055457103875	0.576
18	76755467	G	A	18	78995467	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.759734092453177	0.566
18	76755467	G	C	18	78995467	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.471748111512522	0.586
18	76755467	G	T	18	78995467	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.779317697388432	0.572
18	76755468	A	C	18	78995468	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	1.01622319297358E-4	0.012
18	76755468	A	G	18	78995468	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	3.70022646083779E-5	0.0
18	76755468	A	T	18	78995468	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	3.93113422539003E-5	0.0
18	76755469	G	A	18	78995469	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.0099959948720223	0.018
18	76755469	G	C	18	78995469	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.00677676858715473	0.022
18	76755469	G	T	18	78995469	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.0099959948720223	0.014
18	76755470	C	A	18	78995470	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	8.30945796578933E-5	0.0
18	76755470	C	G	18	78995470	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	8.30945796578933E-5	0.004
18	76755470	C	T	18	78995470	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	8.30945796578933E-5	0.0
18	76756879	T	A	18	78996879	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.999974403624486	0.962
18	76756879	T	C	18	78996879	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.0808766092749784	0.38
18	76756879	T	G	18	78996879	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.998402528058102	0.908
18	76756880	G	A	18	78996880	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.00108811976612583	0.032
18	76756880	G	C	18	78996880	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	2.65103424701164E-4	0.0
18	76756880	G	T	18	78996880	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	1.19372998409109E-4	0.022
18	76756881	T	A	18	78996881	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.944162606693492	0.68
18	76756881	T	C	18	78996881	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.0097851792329894	0.04
18	76756881	T	G	18	78996881	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.909907380620981	0.626
18	76756882	C	A	18	78996882	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.0403022223020688	0.138
18	76756882	C	G	18	78996882	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.0189429254315686	0.09
18	76756882	C	T	18	78996882	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	6.8135606396762E-4	0.078
18	76756883	T	A	18	78996883	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.00615676609853463	0.172
18	76756883	T	C	18	78996883	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	1.07344289552966E-5	0.0
18	76756883	T	G	18	78996883	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	6.08601556614852E-4	0.174
18	76756884	C	A	18	78996884	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.99972265019902	0.958
18	76756884	C	G	18	78996884	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.00329121196566947	0.104
18	76756884	C	T	18	78996884	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	1.24106737114401E-4	0.002
18	76756885	G	A	18	78996885	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	4.63298203647174E-4	0.014
18	76756885	G	C	18	78996885	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	1.67944982512943E-5	0.002
18	76756885	G	T	18	78996885	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	1.81216475309008E-5	0.01
18	76756886	C	A	18	78996886	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.973620632341132	0.612
18	76756886	C	G	18	78996886	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.00371159616692952	0.048
18	76756886	C	T	18	78996886	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	1.65349204624827E-4	0.01
18	76756887	G	A	18	78996887	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	8.56316795528121E-5	0.0
18	76756887	G	C	18	78996887	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	4.22262477651992E-5	0.002
18	76756887	G	T	18	78996887	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	8.55687346682272E-5	0.002
18	76756888	C	A	18	78996888	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.997661662188947	0.794
18	76756888	C	G	18	78996888	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.999897066203519	0.948
18	76756888	C	T	18	78996888	y	y	intronic	SALL3	.	.	intronic	ENSG00000256463	.	.	0.226367691947362	0.088
18	76756889	A	C	18	78996889	y	y	splicing	SALL3(NM_171999:exon3:c.3472-2A>C)	.	.	splicing	ENSG00000256463(ENST00000575389:exon4:c.3256-2A>C;ENST00000537592:exon3:c.3472-2A>C;ENST00000536229:exon3:c.2857-2A>C)	.	.	0.999989917668626	0.904
18	76756889	A	G	18	78996889	y	y	splicing	SALL3(NM_171999:exon3:c.3472-2A>G)	.	.	splicing	ENSG00000256463(ENST00000575389:exon4:c.3256-2A>G;ENST00000537592:exon3:c.3472-2A>G;ENST00000536229:exon3:c.2857-2A>G)	.	.	0.999989917668626	0.904
18	76756889	A	T	18	78996889	y	y	splicing	SALL3(NM_171999:exon3:c.3472-2A>T)	.	.	splicing	ENSG00000256463(ENST00000575389:exon4:c.3256-2A>T;ENST00000537592:exon3:c.3472-2A>T;ENST00000536229:exon3:c.2857-2A>T)	.	.	0.999989917668626	0.904
18	76756890	G	A	18	78996890	y	y	splicing	SALL3(NM_171999:exon3:c.3472-1G>A)	.	.	splicing	ENSG00000256463(ENST00000575389:exon4:c.3256-1G>A;ENST00000537592:exon3:c.3472-1G>A;ENST00000536229:exon3:c.2857-1G>A)	.	.	0.999986675681007	0.904
18	76756890	G	C	18	78996890	y	y	splicing	SALL3(NM_171999:exon3:c.3472-1G>C)	.	.	splicing	ENSG00000256463(ENST00000575389:exon4:c.3256-1G>C;ENST00000537592:exon3:c.3472-1G>C;ENST00000536229:exon3:c.2857-1G>C)	.	.	0.999986675681007	0.902
18	76756890	G	T	18	78996890	y	y	splicing	SALL3(NM_171999:exon3:c.3472-1G>T)	.	.	splicing	ENSG00000256463(ENST00000575389:exon4:c.3256-1G>T;ENST00000537592:exon3:c.3472-1G>T;ENST00000536229:exon3:c.2857-1G>T)	.	.	0.999986675681007	0.902
18	76756891	G	A	18	78996891	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon3:c.G3472A:p.V1158M;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon4:c.G3256A:p.V1086M;ENSG00000256463:ENST00000537592:exon3:c.G3472A:p.V1158M;ENSG00000256463:ENST00000536229:exon3:c.G2857A:p.V953M;	0.996220215643357	0.79
18	76756891	G	C	18	78996891	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon3:c.G3472C:p.V1158L;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon4:c.G3256C:p.V1086L;ENSG00000256463:ENST00000537592:exon3:c.G3472C:p.V1158L;ENSG00000256463:ENST00000536229:exon3:c.G2857C:p.V953L;	0.998835650877919	0.944
18	76756891	G	T	18	78996891	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon3:c.G3472T:p.V1158L;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon4:c.G3256T:p.V1086L;ENSG00000256463:ENST00000537592:exon3:c.G3472T:p.V1158L;ENSG00000256463:ENST00000536229:exon3:c.G2857T:p.V953L;	0.999500480721781	0.966
18	76756892	T	A	18	78996892	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon3:c.T3473A:p.V1158E;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon4:c.T3257A:p.V1086E;ENSG00000256463:ENST00000537592:exon3:c.T3473A:p.V1158E;ENSG00000256463:ENST00000536229:exon3:c.T2858A:p.V953E;	0.0708985319434347	0.324
18	76756892	T	C	18	78996892	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon3:c.T3473C:p.V1158A;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon4:c.T3257C:p.V1086A;ENSG00000256463:ENST00000537592:exon3:c.T3473C:p.V1158A;ENSG00000256463:ENST00000536229:exon3:c.T2858C:p.V953A;	0.0643247949594631	0.282
18	76756892	T	G	18	78996892	y	y	exonic	SALL3	nonsynonymous SNV	SALL3:NM_171999:exon3:c.T3473G:p.V1158G;	exonic	ENSG00000256463	nonsynonymous SNV	ENSG00000256463:ENST00000575389:exon4:c.T3257G:p.V1086G;ENSG00000256463:ENST00000537592:exon3:c.T3473G:p.V1158G;ENSG00000256463:ENST00000536229:exon3:c.T2858G:p.V953G;	0.0317890307520322	0.186
18	76829527	C	A	18	79069527	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon1:c.C117A:p.S39R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon1:c.C117A:p.S39R;ENSG00000166377:ENST00000586722:exon1:c.C117A:p.S39R;ENSG00000166377:ENST00000426216:exon1:c.C117A:p.S39R;ENSG00000166377:ENST00000586366:exon1:c.C117A:p.S39R;ENSG00000166377:ENST00000588600:exon1:c.C117A:p.S39R;ENSG00000166377:ENST00000586672:exon1:c.C117A:p.S39R;	4.94869731168105E-4	0.02
18	76829527	C	G	18	79069527	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon1:c.C117G:p.S39R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon1:c.C117G:p.S39R;ENSG00000166377:ENST00000586722:exon1:c.C117G:p.S39R;ENSG00000166377:ENST00000426216:exon1:c.C117G:p.S39R;ENSG00000166377:ENST00000586366:exon1:c.C117G:p.S39R;ENSG00000166377:ENST00000588600:exon1:c.C117G:p.S39R;ENSG00000166377:ENST00000586672:exon1:c.C117G:p.S39R;	4.67191884072533E-4	0.012
18	76829527	C	T	18	79069527	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon1:c.C117T:p.S39S;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon1:c.C117T:p.S39S;ENSG00000166377:ENST00000586722:exon1:c.C117T:p.S39S;ENSG00000166377:ENST00000426216:exon1:c.C117T:p.S39S;ENSG00000166377:ENST00000586366:exon1:c.C117T:p.S39S;ENSG00000166377:ENST00000588600:exon1:c.C117T:p.S39S;ENSG00000166377:ENST00000586672:exon1:c.C117T:p.S39S;	0.294756678916643	0.406
18	76829528	A	C	18	79069528	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon1:c.A118C:p.R40R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000586672:exon1:c.A118C:p.S40R;	0.997291690946018	0.756
18	76829528	A	G	18	79069528	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon1:c.A118G:p.R40G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon1:c.A118G:p.R40G;ENSG00000166377:ENST00000586722:exon1:c.A118G:p.R40G;ENSG00000166377:ENST00000426216:exon1:c.A118G:p.R40G;ENSG00000166377:ENST00000586366:exon1:c.A118G:p.R40G;ENSG00000166377:ENST00000588600:exon1:c.A118G:p.R40G;ENSG00000166377:ENST00000586672:exon1:c.A118G:p.S40G;	0.998697545281085	0.856
18	76829528	A	T	18	79069528	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon1:c.A118T:p.R40W;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon1:c.A118T:p.R40W;ENSG00000166377:ENST00000586722:exon1:c.A118T:p.R40W;ENSG00000166377:ENST00000426216:exon1:c.A118T:p.R40W;ENSG00000166377:ENST00000586366:exon1:c.A118T:p.R40W;ENSG00000166377:ENST00000588600:exon1:c.A118T:p.R40W;ENSG00000166377:ENST00000586672:exon1:c.A118T:p.S40C;	0.999896254135782	0.968
18	76829529	G	A	18	79069529	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon1:c.G119A:p.R40K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon1:c.G119A:p.R40K;ENSG00000166377:ENST00000586722:exon1:c.G119A:p.R40K;ENSG00000166377:ENST00000426216:exon1:c.G119A:p.R40K;ENSG00000166377:ENST00000586366:exon1:c.G119A:p.R40K;ENSG00000166377:ENST00000588600:exon1:c.G119A:p.R40K;ENSG00000166377:ENST00000586672:exon1:c.G119A:p.S40N;	0.999938397875633	0.992
18	76829529	G	C	18	79069529	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon1:c.G119C:p.R40T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon1:c.G119C:p.R40T;ENSG00000166377:ENST00000586722:exon1:c.G119C:p.R40T;ENSG00000166377:ENST00000426216:exon1:c.G119C:p.R40T;ENSG00000166377:ENST00000586366:exon1:c.G119C:p.R40T;ENSG00000166377:ENST00000588600:exon1:c.G119C:p.R40T;ENSG00000166377:ENST00000586672:exon1:c.G119C:p.S40T;	0.999966343292153	0.92
18	76829529	G	T	18	79069529	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon1:c.G119T:p.R40M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon1:c.G119T:p.R40M;ENSG00000166377:ENST00000586722:exon1:c.G119T:p.R40M;ENSG00000166377:ENST00000426216:exon1:c.G119T:p.R40M;ENSG00000166377:ENST00000586366:exon1:c.G119T:p.R40M;ENSG00000166377:ENST00000588600:exon1:c.G119T:p.R40M;ENSG00000166377:ENST00000586672:exon1:c.G119T:p.S40I;	0.999670192728668	0.998
18	76829530	G	A	18	79069530	y	y	splicing	ATP9B(NM_198531:exon1:c.119+1G>A)	.	.	splicing	ENSG00000166377(ENST00000588600:exon1:c.119+1G>A;ENST00000586366:exon1:c.119+1G>A;ENST00000426216:exon1:c.119+1G>A;ENST00000307671:exon1:c.119+1G>A;ENST00000586672:exon1:c.119+1G>A;ENST00000586722:exon1:c.119+1G>A)	.	.	0.999969111252016	0.804
18	76829530	G	C	18	79069530	y	y	splicing	ATP9B(NM_198531:exon1:c.119+1G>C)	.	.	splicing	ENSG00000166377(ENST00000588600:exon1:c.119+1G>C;ENST00000586366:exon1:c.119+1G>C;ENST00000426216:exon1:c.119+1G>C;ENST00000307671:exon1:c.119+1G>C;ENST00000586672:exon1:c.119+1G>C;ENST00000586722:exon1:c.119+1G>C)	.	.	0.999969111252016	0.798
18	76829530	G	T	18	79069530	y	y	splicing	ATP9B(NM_198531:exon1:c.119+1G>T)	.	.	splicing	ENSG00000166377(ENST00000588600:exon1:c.119+1G>T;ENST00000586366:exon1:c.119+1G>T;ENST00000426216:exon1:c.119+1G>T;ENST00000307671:exon1:c.119+1G>T;ENST00000586672:exon1:c.119+1G>T;ENST00000586722:exon1:c.119+1G>T)	.	.	0.999969111252016	0.804
18	76829531	T	A	18	79069531	y	y	splicing	ATP9B(NM_198531:exon1:c.119+2T>A)	.	.	splicing	ENSG00000166377(ENST00000588600:exon1:c.119+2T>A;ENST00000586366:exon1:c.119+2T>A;ENST00000426216:exon1:c.119+2T>A;ENST00000307671:exon1:c.119+2T>A;ENST00000586672:exon1:c.119+2T>A;ENST00000586722:exon1:c.119+2T>A)	.	.	0.999940545755154	0.852
18	76829531	T	C	18	79069531	y	y	splicing	ATP9B(NM_198531:exon1:c.119+2T>C)	.	.	splicing	ENSG00000166377(ENST00000588600:exon1:c.119+2T>C;ENST00000586366:exon1:c.119+2T>C;ENST00000426216:exon1:c.119+2T>C;ENST00000307671:exon1:c.119+2T>C;ENST00000586672:exon1:c.119+2T>C;ENST00000586722:exon1:c.119+2T>C)	.	.	0.943924700137652	0.516
18	76829531	T	G	18	79069531	y	y	splicing	ATP9B(NM_198531:exon1:c.119+2T>G)	.	.	splicing	ENSG00000166377(ENST00000588600:exon1:c.119+2T>G;ENST00000586366:exon1:c.119+2T>G;ENST00000426216:exon1:c.119+2T>G;ENST00000307671:exon1:c.119+2T>G;ENST00000586672:exon1:c.119+2T>G;ENST00000586722:exon1:c.119+2T>G)	.	.	0.999940545755154	0.812
18	76829532	A	C	18	79069532	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999856923742102	0.898
18	76829532	A	G	18	79069532	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.840930487964133	0.658
18	76829532	A	T	18	79069532	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999900437477401	0.934
18	76829533	A	C	18	79069533	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.28037810223188	0.51
18	76829533	A	G	18	79069533	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.909537588274679	0.474
18	76829533	A	T	18	79069533	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.919962340865371	0.5
18	76829534	C	A	18	79069534	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.02524644951085E-5	0.012
18	76829534	C	G	18	79069534	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.20285836660606E-4	0.068
18	76829534	C	T	18	79069534	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.41661109618063E-4	0.042
18	76829535	C	A	18	79069535	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.24290671321107E-4	0.0
18	76829535	C	G	18	79069535	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.15106956388025E-5	0.012
18	76829535	C	T	18	79069535	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.04799102519692E-5	0.0
18	76829536	G	A	18	79069536	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.78389654127837E-5	0.0
18	76829536	G	C	18	79069536	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.95416100750369E-5	0.0
18	76829536	G	T	18	79069536	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.05731866030037E-5	0.0
18	76829537	A	C	18	79069537	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.28782214463755E-4	0.002
18	76829537	A	G	18	79069537	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.80413358228535E-4	0.004
18	76829537	A	T	18	79069537	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.28782214463755E-4	0.006
18	76837970	A	C	18	79077970	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837970	A	G	18	79077970	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837970	A	T	18	79077970	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837971	A	C	18	79077971	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837971	A	G	18	79077971	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837971	A	T	18	79077971	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837972	A	C	18	79077972	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837972	A	G	18	79077972	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837972	A	T	18	79077972	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837973	C	A	18	79077973	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.20639154229398E-5	0.0
18	76837973	C	G	18	79077973	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.20639154229398E-5	0.012
18	76837973	C	T	18	79077973	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.20639154229398E-5	0.0
18	76837974	T	A	18	79077974	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837974	T	C	18	79077974	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837974	T	G	18	79077974	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837975	T	A	18	79077975	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837975	T	C	18	79077975	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	76837975	T	G	18	79077975	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	76837976	T	A	18	79077976	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	76837976	T	C	18	79077976	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	76837976	T	G	18	79077976	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	76837977	A	C	18	79077977	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	76837977	A	G	18	79077977	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	76837977	A	T	18	79077977	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	76837978	A	C	18	79077978	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.012
18	76837978	A	G	18	79077978	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.012
18	76837978	A	T	18	79077978	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	76837979	C	A	18	79077979	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.80635910608335E-5	0.004
18	76837979	C	G	18	79077979	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.80635910608335E-5	0.0
18	76837979	C	T	18	79077979	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.28766987286446E-5	0.006
18	76837980	A	C	18	79077980	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.120-2A>C)	.	.	6.7395485643605E-5	0.006
18	76837980	A	G	18	79077980	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.120-2A>G)	.	.	6.7395485643605E-5	0.006
18	76837980	A	T	18	79077980	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.120-2A>T)	.	.	6.7395485643605E-5	0.122
18	76837981	G	A	18	79077981	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.120-1G>A)	.	.	1.67406935090243E-5	0.0
18	76837981	G	C	18	79077981	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.120-1G>C)	.	.	1.67406935090243E-5	0.0
18	76837981	G	T	18	79077981	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.120-1G>T)	.	.	1.67406935090243E-5	0.0
18	76837982	G	A	18	79077982	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.G120A:p.R40R;	1.67406935090243E-5	0.0
18	76837982	G	C	18	79077982	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.G120C:p.R40S;	1.67406935090243E-5	0.0
18	76837982	G	T	18	79077982	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.G120T:p.R40S;	1.67406935090243E-5	0.0
18	76837983	A	C	18	79077983	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.A121C:p.N41H;	5.10250552304391E-5	0.006
18	76837983	A	G	18	79077983	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.A121G:p.N41D;	5.10250552304391E-5	0.026
18	76837983	A	T	18	79077983	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.A121T:p.N41Y;	5.10250552304391E-5	0.002
18	76838155	T	A	18	79078155	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.T293A:p.V98E;	2.83935518155002E-5	0.004
18	76838155	T	C	18	79078155	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.T293C:p.V98A;	2.63141535133926E-5	0.0
18	76838155	T	G	18	79078155	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.T293G:p.V98G;	2.63141535133926E-5	0.0
18	76838156	A	C	18	79078156	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.A294C:p.V98V;	3.78864525412067E-5	0.0
18	76838156	A	G	18	79078156	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.A294G:p.V98V;	3.78864525412067E-5	0.0
18	76838156	A	T	18	79078156	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.A294T:p.V98V;	3.78864525412067E-5	0.0
18	76838157	G	A	18	79078157	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.G295A:p.G99S;	1.67406935090243E-5	0.0
18	76838157	G	C	18	79078157	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.G295C:p.G99R;	1.67406935090243E-5	0.0
18	76838157	G	T	18	79078157	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon2:c.G295T:p.G99C;	1.67406935090243E-5	0.0
18	76838158	G	A	18	79078158	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.295+1G>A)	.	.	1.67406935090243E-5	0.0
18	76838158	G	C	18	79078158	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.295+1G>C)	.	.	1.67406935090243E-5	0.002
18	76838158	G	T	18	79078158	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.295+1G>T)	.	.	1.67406935090243E-5	0.0
18	76838159	T	A	18	79078159	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.295+2T>A)	.	.	6.7395485643605E-5	0.006
18	76838159	T	C	18	79078159	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.295+2T>C)	.	.	2.83935518155002E-5	0.0
18	76838159	T	G	18	79078159	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588600:exon2:c.295+2T>G)	.	.	2.83935518155002E-5	0.0
18	76838160	G	A	18	79078160	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838160	G	C	18	79078160	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838160	G	T	18	79078160	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838161	A	C	18	79078161	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.83935518155002E-5	0.002
18	76838161	A	G	18	79078161	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.83935518155002E-5	0.002
18	76838161	A	T	18	79078161	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.7395485643605E-5	0.006
18	76838162	G	A	18	79078162	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838162	G	C	18	79078162	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838162	G	T	18	79078162	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838163	G	A	18	79078163	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838163	G	C	18	79078163	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838163	G	T	18	79078163	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838164	C	A	18	79078164	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838164	C	G	18	79078164	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838164	C	T	18	79078164	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.67406935090243E-5	0.0
18	76838165	T	A	18	79078165	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.7395485643605E-5	0.006
18	76838165	T	C	18	79078165	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.83935518155002E-5	0.004
18	76838165	T	G	18	79078165	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.83935518155002E-5	0.004
18	76856464	T	A	18	79096464	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.101885786351962	0.476
18	76856464	T	C	18	79096464	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.04107471196359E-4	0.002
18	76856464	T	G	18	79096464	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00545374875845323	0.292
18	76856465	A	C	18	79096465	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.92581267454968E-5	0.01
18	76856465	A	G	18	79096465	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.1190662558001E-6	0.008
18	76856465	A	T	18	79096465	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.17316926627923E-5	0.116
18	76856466	C	A	18	79096466	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00177291819948589	0.068
18	76856466	C	G	18	79096466	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999952575747467	0.992
18	76856466	C	T	18	79096466	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.48499498734568E-5	0.0
18	76856467	C	A	18	79096467	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00167282252147419	0.07
18	76856467	C	G	18	79096467	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00157904776078502	0.064
18	76856467	C	T	18	79096467	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.09207475325355E-5	0.0
18	76856468	C	A	18	79096468	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.22141973602936E-4	0.122
18	76856468	C	G	18	79096468	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.62479422444611E-4	0.02
18	76856468	C	T	18	79096468	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.04508281957731E-5	0.0
18	76856469	T	A	18	79096469	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0532174684021545	0.17
18	76856469	T	C	18	79096469	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.30348513504411E-4	0.004
18	76856469	T	G	18	79096469	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.224194868137272	0.316
18	76856470	A	C	18	79096470	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.91009109248734E-5	0.0
18	76856470	A	G	18	79096470	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.22678844390476E-5	0.0
18	76856470	A	T	18	79096470	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.55090100199576E-5	0.0
18	76856471	A	C	18	79096471	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.99517113040136E-5	0.0
18	76856471	A	G	18	79096471	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997853279611529	0.984
18	76856471	A	T	18	79096471	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.14160259399143E-5	0.088
18	76856472	C	A	18	79096472	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.38085723169812E-5	0.008
18	76856472	C	G	18	79096472	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999114045315762	0.872
18	76856472	C	T	18	79096472	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.5089967444158E-4	0.02
18	76856473	T	A	18	79096473	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0362175580351727	0.304
18	76856473	T	C	18	79096473	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.91215364738306E-5	0.0
18	76856473	T	G	18	79096473	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.982177061075604	0.708
18	76856474	A	C	18	79096474	y	y	splicing	ATP9B(NM_198531:exon2:c.120-2A>C)	.	.	splicing	ENSG00000166377(ENST00000588600:exon3:c.296-2A>C;ENST00000586366:exon2:c.120-2A>C;ENST00000426216:exon2:c.120-2A>C;ENST00000307671:exon2:c.120-2A>C;ENST00000586722:exon2:c.120-2A>C)	.	.	0.999989917668626	0.924
18	76856474	A	G	18	79096474	y	y	splicing	ATP9B(NM_198531:exon2:c.120-2A>G)	.	.	splicing	ENSG00000166377(ENST00000588600:exon3:c.296-2A>G;ENST00000586366:exon2:c.120-2A>G;ENST00000426216:exon2:c.120-2A>G;ENST00000307671:exon2:c.120-2A>G;ENST00000586722:exon2:c.120-2A>G)	.	.	0.999989917668626	0.924
18	76856474	A	T	18	79096474	y	y	splicing	ATP9B(NM_198531:exon2:c.120-2A>T)	.	.	splicing	ENSG00000166377(ENST00000588600:exon3:c.296-2A>T;ENST00000586366:exon2:c.120-2A>T;ENST00000426216:exon2:c.120-2A>T;ENST00000307671:exon2:c.120-2A>T;ENST00000586722:exon2:c.120-2A>T)	.	.	0.999989917668626	0.924
18	76856475	G	A	18	79096475	y	y	splicing	ATP9B(NM_198531:exon2:c.120-1G>A)	.	.	splicing	ENSG00000166377(ENST00000588600:exon3:c.296-1G>A;ENST00000586366:exon2:c.120-1G>A;ENST00000426216:exon2:c.120-1G>A;ENST00000307671:exon2:c.120-1G>A;ENST00000586722:exon2:c.120-1G>A)	.	.	0.999986675681007	0.932
18	76856475	G	C	18	79096475	y	y	splicing	ATP9B(NM_198531:exon2:c.120-1G>C)	.	.	splicing	ENSG00000166377(ENST00000588600:exon3:c.296-1G>C;ENST00000586366:exon2:c.120-1G>C;ENST00000426216:exon2:c.120-1G>C;ENST00000307671:exon2:c.120-1G>C;ENST00000586722:exon2:c.120-1G>C)	.	.	0.999986675681007	0.932
18	76856475	G	T	18	79096475	y	y	splicing	ATP9B(NM_198531:exon2:c.120-1G>T)	.	.	splicing	ENSG00000166377(ENST00000588600:exon3:c.296-1G>T;ENST00000586366:exon2:c.120-1G>T;ENST00000426216:exon2:c.120-1G>T;ENST00000307671:exon2:c.120-1G>T;ENST00000586722:exon2:c.120-1G>T)	.	.	0.999986675681007	0.932
18	76856476	G	A	18	79096476	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon2:c.G120A:p.R40R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000588600:exon3:c.G296A:p.G99D;	0.430688595531891	0.468
18	76856476	G	C	18	79096476	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.G120C:p.R40S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon2:c.G120C:p.R40S;ENSG00000166377:ENST00000586722:exon2:c.G120C:p.R40S;ENSG00000166377:ENST00000426216:exon2:c.G120C:p.R40S;ENSG00000166377:ENST00000586366:exon2:c.G120C:p.R40S;ENSG00000166377:ENST00000588600:exon3:c.G296C:p.G99A;	0.996520043690116	0.894
18	76856476	G	T	18	79096476	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.G120T:p.R40S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon2:c.G120T:p.R40S;ENSG00000166377:ENST00000586722:exon2:c.G120T:p.R40S;ENSG00000166377:ENST00000426216:exon2:c.G120T:p.R40S;ENSG00000166377:ENST00000586366:exon2:c.G120T:p.R40S;ENSG00000166377:ENST00000588600:exon3:c.G296T:p.G99V;	0.99842488104284	0.896
18	76856477	T	A	18	79096477	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.T121A:p.Y41N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon2:c.T121A:p.Y41N;ENSG00000166377:ENST00000586722:exon2:c.T121A:p.Y41N;ENSG00000166377:ENST00000426216:exon2:c.T121A:p.Y41N;ENSG00000166377:ENST00000586366:exon2:c.T121A:p.Y41N;	0.130929623636834	0.362
18	76856477	T	C	18	79096477	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.T121C:p.Y41H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon2:c.T121C:p.Y41H;ENSG00000166377:ENST00000586722:exon2:c.T121C:p.Y41H;ENSG00000166377:ENST00000426216:exon2:c.T121C:p.Y41H;ENSG00000166377:ENST00000586366:exon2:c.T121C:p.Y41H;	0.113489701858357	0.466
18	76856477	T	G	18	79096477	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.T121G:p.Y41D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon2:c.T121G:p.Y41D;ENSG00000166377:ENST00000586722:exon2:c.T121G:p.Y41D;ENSG00000166377:ENST00000426216:exon2:c.T121G:p.Y41D;ENSG00000166377:ENST00000586366:exon2:c.T121G:p.Y41D;	0.0700405418098791	0.326
18	76856647	C	A	18	79096647	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon2:c.C291A:p.T97T;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.C135A:p.T45T;ENSG00000166377:ENST00000307671:exon2:c.C291A:p.T97T;ENSG00000166377:ENST00000586722:exon2:c.C291A:p.T97T;ENSG00000166377:ENST00000426216:exon2:c.C291A:p.T97T;ENSG00000166377:ENST00000586366:exon2:c.C291A:p.T97T;	4.49171322579306E-5	0.044
18	76856647	C	G	18	79096647	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon2:c.C291G:p.T97T;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.C135G:p.T45T;ENSG00000166377:ENST00000307671:exon2:c.C291G:p.T97T;ENSG00000166377:ENST00000586722:exon2:c.C291G:p.T97T;ENSG00000166377:ENST00000426216:exon2:c.C291G:p.T97T;ENSG00000166377:ENST00000586366:exon2:c.C291G:p.T97T;	3.39474246258044E-4	0.016
18	76856647	C	T	18	79096647	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon2:c.C291T:p.T97T;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.C135T:p.T45T;ENSG00000166377:ENST00000307671:exon2:c.C291T:p.T97T;ENSG00000166377:ENST00000586722:exon2:c.C291T:p.T97T;ENSG00000166377:ENST00000426216:exon2:c.C291T:p.T97T;ENSG00000166377:ENST00000586366:exon2:c.C291T:p.T97T;	0.320076901056685	0.48
18	76856648	A	C	18	79096648	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.A292C:p.S98R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.A136C:p.S46R;ENSG00000166377:ENST00000307671:exon2:c.A292C:p.S98R;ENSG00000166377:ENST00000586722:exon2:c.A292C:p.S98R;ENSG00000166377:ENST00000426216:exon2:c.A292C:p.S98R;ENSG00000166377:ENST00000586366:exon2:c.A292C:p.S98R;	0.954882726425027	0.682
18	76856648	A	G	18	79096648	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.A292G:p.S98G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.A136G:p.S46G;ENSG00000166377:ENST00000307671:exon2:c.A292G:p.S98G;ENSG00000166377:ENST00000586722:exon2:c.A292G:p.S98G;ENSG00000166377:ENST00000426216:exon2:c.A292G:p.S98G;ENSG00000166377:ENST00000586366:exon2:c.A292G:p.S98G;	0.987698859643326	0.654
18	76856648	A	T	18	79096648	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.A292T:p.S98C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.A136T:p.S46C;ENSG00000166377:ENST00000307671:exon2:c.A292T:p.S98C;ENSG00000166377:ENST00000586722:exon2:c.A292T:p.S98C;ENSG00000166377:ENST00000426216:exon2:c.A292T:p.S98C;ENSG00000166377:ENST00000586366:exon2:c.A292T:p.S98C;	0.998415355774409	0.964
18	76856649	G	A	18	79096649	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.G293A:p.S98N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.G137A:p.S46N;ENSG00000166377:ENST00000307671:exon2:c.G293A:p.S98N;ENSG00000166377:ENST00000586722:exon2:c.G293A:p.S98N;ENSG00000166377:ENST00000426216:exon2:c.G293A:p.S98N;ENSG00000166377:ENST00000586366:exon2:c.G293A:p.S98N;	0.999989437425488	0.998
18	76856649	G	C	18	79096649	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.G293C:p.S98T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.G137C:p.S46T;ENSG00000166377:ENST00000307671:exon2:c.G293C:p.S98T;ENSG00000166377:ENST00000586722:exon2:c.G293C:p.S98T;ENSG00000166377:ENST00000426216:exon2:c.G293C:p.S98T;ENSG00000166377:ENST00000586366:exon2:c.G293C:p.S98T;	0.9999896913353	0.992
18	76856649	G	T	18	79096649	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon2:c.G293T:p.S98I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon2:c.G137T:p.S46I;ENSG00000166377:ENST00000307671:exon2:c.G293T:p.S98I;ENSG00000166377:ENST00000586722:exon2:c.G293T:p.S98I;ENSG00000166377:ENST00000426216:exon2:c.G293T:p.S98I;ENSG00000166377:ENST00000586366:exon2:c.G293T:p.S98I;	0.999985626969665	0.992
18	76856650	G	A	18	79096650	y	y	splicing	ATP9B(NM_198531:exon2:c.293+1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon2:c.293+1G>A;ENST00000426216:exon2:c.293+1G>A;ENST00000307671:exon2:c.293+1G>A;ENST00000586722:exon2:c.293+1G>A;ENST00000458297:exon2:c.137+1G>A)	.	.	0.999973077603061	0.936
18	76856650	G	C	18	79096650	y	y	splicing	ATP9B(NM_198531:exon2:c.293+1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon2:c.293+1G>C;ENST00000426216:exon2:c.293+1G>C;ENST00000307671:exon2:c.293+1G>C;ENST00000586722:exon2:c.293+1G>C;ENST00000458297:exon2:c.137+1G>C)	.	.	0.999962472812432	0.934
18	76856650	G	T	18	79096650	y	y	splicing	ATP9B(NM_198531:exon2:c.293+1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon2:c.293+1G>T;ENST00000426216:exon2:c.293+1G>T;ENST00000307671:exon2:c.293+1G>T;ENST00000586722:exon2:c.293+1G>T;ENST00000458297:exon2:c.137+1G>T)	.	.	0.999973077603061	0.934
18	76856651	T	A	18	79096651	y	y	splicing	ATP9B(NM_198531:exon2:c.293+2T>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon2:c.293+2T>A;ENST00000426216:exon2:c.293+2T>A;ENST00000307671:exon2:c.293+2T>A;ENST00000586722:exon2:c.293+2T>A;ENST00000458297:exon2:c.137+2T>A)	.	.	0.999985223844491	0.926
18	76856651	T	C	18	79096651	y	y	splicing	ATP9B(NM_198531:exon2:c.293+2T>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon2:c.293+2T>C;ENST00000426216:exon2:c.293+2T>C;ENST00000307671:exon2:c.293+2T>C;ENST00000586722:exon2:c.293+2T>C;ENST00000458297:exon2:c.137+2T>C)	.	.	0.982494450770095	0.662
18	76856651	T	G	18	79096651	y	y	splicing	ATP9B(NM_198531:exon2:c.293+2T>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon2:c.293+2T>G;ENST00000426216:exon2:c.293+2T>G;ENST00000307671:exon2:c.293+2T>G;ENST00000586722:exon2:c.293+2T>G;ENST00000458297:exon2:c.137+2T>G)	.	.	0.999961870286175	0.926
18	76856652	T	A	18	79096652	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.88125868704355E-4	0.096
18	76856652	T	C	18	79096652	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.74379353793218E-4	0.098
18	76856652	T	G	18	79096652	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.06304225814771E-5	0.086
18	76856653	T	A	18	79096653	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.59138392740744E-4	0.104
18	76856653	T	C	18	79096653	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.03357763971782E-5	0.006
18	76856653	T	G	18	79096653	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.44051433402409E-5	0.004
18	76856654	G	A	18	79096654	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999700004817272	0.944
18	76856654	G	C	18	79096654	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999986555777255	0.994
18	76856654	G	T	18	79096654	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999090666916235	0.938
18	76856655	T	A	18	79096655	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.366231524132466	0.354
18	76856655	T	C	18	79096655	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.612541530797427	0.454
18	76856655	T	G	18	79096655	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0323963139705439	0.286
18	76856656	T	A	18	79096656	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.51122456179948E-5	0.0
18	76856656	T	C	18	79096656	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.51122456179948E-5	0.0
18	76856656	T	G	18	79096656	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19074357744291E-5	0.0
18	76856657	A	C	18	79096657	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.1727629288968E-6	0.0
18	76856657	A	G	18	79096657	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.24955672542335E-5	0.002
18	76856657	A	T	18	79096657	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.1727629288968E-6	0.0
18	76870343	T	A	18	79110343	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999913068573439	0.964
18	76870343	T	C	18	79110343	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.84944495046609E-5	0.01
18	76870343	T	G	18	79110343	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0207621274165531	0.382
18	76870344	G	A	18	79110344	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.12457686231154E-4	0.032
18	76870344	G	C	18	79110344	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.5857116143048E-4	0.0
18	76870344	G	T	18	79110344	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.22604222277621E-4	0.0
18	76870345	T	A	18	79110345	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.915416220389709	0.754
18	76870345	T	C	18	79110345	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00245166557998589	0.096
18	76870345	T	G	18	79110345	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.816446501293325	0.682
18	76870346	T	A	18	79110346	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.935987196827079	0.774
18	76870346	T	C	18	79110346	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0047918679845486	0.072
18	76870346	T	G	18	79110346	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.899708931078527	0.742
18	76870347	T	A	18	79110347	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.103819311933261	0.088
18	76870347	T	C	18	79110347	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.76993405372089E-5	0.0
18	76870347	T	G	18	79110347	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00577186256991218	0.066
18	76870348	C	A	18	79110348	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00747779433581843	0.06
18	76870348	C	G	18	79110348	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00242730525716994	0.052
18	76870348	C	T	18	79110348	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.21505756413985E-5	0.0
18	76870349	A	C	18	79110349	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.66833446434395E-4	0.004
18	76870349	A	G	18	79110349	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.87570035875169E-5	0.01
18	76870349	A	T	18	79110349	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.26151120005391E-4	0.004
18	76870350	T	A	18	79110350	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0920618351528677	0.284
18	76870350	T	C	18	79110350	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.92050100217807E-4	0.004
18	76870350	T	G	18	79110350	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.983858581027291	0.896
18	76870351	A	C	18	79110351	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.98643849758326E-5	0.0
18	76870351	A	G	18	79110351	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.82096258143494E-5	0.0
18	76870351	A	T	18	79110351	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.4396291759671E-5	0.0
18	76870352	C	A	18	79110352	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.91119454049443	0.514
18	76870352	C	G	18	79110352	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999339424297076	0.94
18	76870352	C	T	18	79110352	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00118125783194208	0.018
18	76870353	A	C	18	79110353	y	y	splicing	ATP9B(NM_198531:exon3:c.294-2A>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.294-2A>C;ENST00000426216:exon3:c.294-2A>C;ENST00000307671:exon3:c.294-2A>C;ENST00000586672:exon2:c.120-2A>C;ENST00000586722:exon3:c.294-2A>C;ENST00000458297:exon3:c.138-2A>C)	.	.	0.999989917668626	0.926
18	76870353	A	G	18	79110353	y	y	splicing	ATP9B(NM_198531:exon3:c.294-2A>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.294-2A>G;ENST00000426216:exon3:c.294-2A>G;ENST00000307671:exon3:c.294-2A>G;ENST00000586672:exon2:c.120-2A>G;ENST00000586722:exon3:c.294-2A>G;ENST00000458297:exon3:c.138-2A>G)	.	.	0.999989917668626	0.926
18	76870353	A	T	18	79110353	y	y	splicing	ATP9B(NM_198531:exon3:c.294-2A>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.294-2A>T;ENST00000426216:exon3:c.294-2A>T;ENST00000307671:exon3:c.294-2A>T;ENST00000586672:exon2:c.120-2A>T;ENST00000586722:exon3:c.294-2A>T;ENST00000458297:exon3:c.138-2A>T)	.	.	0.999989917668626	0.926
18	76870354	G	A	18	79110354	y	y	splicing	ATP9B(NM_198531:exon3:c.294-1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.294-1G>A;ENST00000426216:exon3:c.294-1G>A;ENST00000307671:exon3:c.294-1G>A;ENST00000586672:exon2:c.120-1G>A;ENST00000586722:exon3:c.294-1G>A;ENST00000458297:exon3:c.138-1G>A)	.	.	0.999986675681007	0.94
18	76870354	G	C	18	79110354	y	y	splicing	ATP9B(NM_198531:exon3:c.294-1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.294-1G>C;ENST00000426216:exon3:c.294-1G>C;ENST00000307671:exon3:c.294-1G>C;ENST00000586672:exon2:c.120-1G>C;ENST00000586722:exon3:c.294-1G>C;ENST00000458297:exon3:c.138-1G>C)	.	.	0.999986675681007	0.938
18	76870354	G	T	18	79110354	y	y	splicing	ATP9B(NM_198531:exon3:c.294-1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.294-1G>T;ENST00000426216:exon3:c.294-1G>T;ENST00000307671:exon3:c.294-1G>T;ENST00000586672:exon2:c.120-1G>T;ENST00000586722:exon3:c.294-1G>T;ENST00000458297:exon3:c.138-1G>T)	.	.	0.999986675681007	0.94
18	76870355	T	A	18	79110355	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.T294A:p.S98R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.T138A:p.S46R;ENSG00000166377:ENST00000307671:exon3:c.T294A:p.S98R;ENSG00000166377:ENST00000586722:exon3:c.T294A:p.S98R;ENSG00000166377:ENST00000426216:exon3:c.T294A:p.S98R;ENSG00000166377:ENST00000586366:exon3:c.T294A:p.S98R;ENSG00000166377:ENST00000586672:exon2:c.T120A:p.S40R;	1.34605767524392E-4	0.004
18	76870355	T	C	18	79110355	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon3:c.T294C:p.S98S;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.T138C:p.S46S;ENSG00000166377:ENST00000307671:exon3:c.T294C:p.S98S;ENSG00000166377:ENST00000586722:exon3:c.T294C:p.S98S;ENSG00000166377:ENST00000426216:exon3:c.T294C:p.S98S;ENSG00000166377:ENST00000586366:exon3:c.T294C:p.S98S;ENSG00000166377:ENST00000586672:exon2:c.T120C:p.S40S;	1.51111916669018E-4	0.022
18	76870355	T	G	18	79110355	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.T294G:p.S98R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.T138G:p.S46R;ENSG00000166377:ENST00000307671:exon3:c.T294G:p.S98R;ENSG00000166377:ENST00000586722:exon3:c.T294G:p.S98R;ENSG00000166377:ENST00000426216:exon3:c.T294G:p.S98R;ENSG00000166377:ENST00000586366:exon3:c.T294G:p.S98R;ENSG00000166377:ENST00000586672:exon2:c.T120G:p.S40R;	6.43549273053452E-4	0.144
18	76870356	T	A	18	79110356	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.T295A:p.C99S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.T139A:p.C47S;ENSG00000166377:ENST00000307671:exon3:c.T295A:p.C99S;ENSG00000166377:ENST00000586722:exon3:c.T295A:p.C99S;ENSG00000166377:ENST00000426216:exon3:c.T295A:p.C99S;ENSG00000166377:ENST00000586366:exon3:c.T295A:p.C99S;ENSG00000166377:ENST00000586672:exon2:c.T121A:p.C41S;	0.10992238331955	0.352
18	76870356	T	C	18	79110356	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.T295C:p.C99R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.T139C:p.C47R;ENSG00000166377:ENST00000307671:exon3:c.T295C:p.C99R;ENSG00000166377:ENST00000586722:exon3:c.T295C:p.C99R;ENSG00000166377:ENST00000426216:exon3:c.T295C:p.C99R;ENSG00000166377:ENST00000586366:exon3:c.T295C:p.C99R;ENSG00000166377:ENST00000586672:exon2:c.T121C:p.C41R;	0.167519691189634	0.334
18	76870356	T	G	18	79110356	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.T295G:p.C99G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.T139G:p.C47G;ENSG00000166377:ENST00000307671:exon3:c.T295G:p.C99G;ENSG00000166377:ENST00000586722:exon3:c.T295G:p.C99G;ENSG00000166377:ENST00000426216:exon3:c.T295G:p.C99G;ENSG00000166377:ENST00000586366:exon3:c.T295G:p.C99G;ENSG00000166377:ENST00000586672:exon2:c.T121G:p.C41G;	0.105166584355604	0.406
18	76870503	G	A	18	79110503	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.G442A:p.G148R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G286A:p.G96R;ENSG00000166377:ENST00000307671:exon3:c.G442A:p.G148R;ENSG00000166377:ENST00000586722:exon3:c.G442A:p.G148R;ENSG00000166377:ENST00000426216:exon3:c.G442A:p.G148R;ENSG00000166377:ENST00000586366:exon3:c.G442A:p.G148R;ENSG00000166377:ENST00000586672:exon2:c.G268A:p.G90R;	0.561179063141448	0.552
18	76870503	G	C	18	79110503	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.G442C:p.G148R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G286C:p.G96R;ENSG00000166377:ENST00000307671:exon3:c.G442C:p.G148R;ENSG00000166377:ENST00000586722:exon3:c.G442C:p.G148R;ENSG00000166377:ENST00000426216:exon3:c.G442C:p.G148R;ENSG00000166377:ENST00000586366:exon3:c.G442C:p.G148R;ENSG00000166377:ENST00000586672:exon2:c.G268C:p.G90R;	0.309599214088824	0.438
18	76870503	G	T	18	79110503	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.G442T:p.G148W;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G286T:p.G96W;ENSG00000166377:ENST00000307671:exon3:c.G442T:p.G148W;ENSG00000166377:ENST00000586722:exon3:c.G442T:p.G148W;ENSG00000166377:ENST00000426216:exon3:c.G442T:p.G148W;ENSG00000166377:ENST00000586366:exon3:c.G442T:p.G148W;ENSG00000166377:ENST00000586672:exon2:c.G268T:p.G90W;	0.975376615184937	0.848
18	76870504	G	A	18	79110504	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.G443A:p.G148E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G287A:p.G96E;ENSG00000166377:ENST00000307671:exon3:c.G443A:p.G148E;ENSG00000166377:ENST00000586722:exon3:c.G443A:p.G148E;ENSG00000166377:ENST00000426216:exon3:c.G443A:p.G148E;ENSG00000166377:ENST00000586366:exon3:c.G443A:p.G148E;ENSG00000166377:ENST00000586672:exon2:c.G269A:p.G90E;	0.94229821250789	0.48
18	76870504	G	C	18	79110504	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.G443C:p.G148A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G287C:p.G96A;ENSG00000166377:ENST00000307671:exon3:c.G443C:p.G148A;ENSG00000166377:ENST00000586722:exon3:c.G443C:p.G148A;ENSG00000166377:ENST00000426216:exon3:c.G443C:p.G148A;ENSG00000166377:ENST00000586366:exon3:c.G443C:p.G148A;ENSG00000166377:ENST00000586672:exon2:c.G269C:p.G90A;	0.016700020119944	0.08
18	76870504	G	T	18	79110504	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon3:c.G443T:p.G148V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G287T:p.G96V;ENSG00000166377:ENST00000307671:exon3:c.G443T:p.G148V;ENSG00000166377:ENST00000586722:exon3:c.G443T:p.G148V;ENSG00000166377:ENST00000426216:exon3:c.G443T:p.G148V;ENSG00000166377:ENST00000586366:exon3:c.G443T:p.G148V;ENSG00000166377:ENST00000586672:exon2:c.G269T:p.G90V;	0.0172941982793194	0.056
18	76870505	G	A	18	79110505	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon3:c.G444A:p.G148G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G288A:p.G96G;ENSG00000166377:ENST00000307671:exon3:c.G444A:p.G148G;ENSG00000166377:ENST00000586722:exon3:c.G444A:p.G148G;ENSG00000166377:ENST00000426216:exon3:c.G444A:p.G148G;ENSG00000166377:ENST00000586366:exon3:c.G444A:p.G148G;ENSG00000166377:ENST00000586672:exon2:c.G270A:p.G90G;	0.999919195303656	0.998
18	76870505	G	C	18	79110505	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon3:c.G444C:p.G148G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G288C:p.G96G;ENSG00000166377:ENST00000307671:exon3:c.G444C:p.G148G;ENSG00000166377:ENST00000586722:exon3:c.G444C:p.G148G;ENSG00000166377:ENST00000426216:exon3:c.G444C:p.G148G;ENSG00000166377:ENST00000586366:exon3:c.G444C:p.G148G;ENSG00000166377:ENST00000586672:exon2:c.G270C:p.G90G;	0.999972941837173	0.968
18	76870505	G	T	18	79110505	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon3:c.G444T:p.G148G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon3:c.G288T:p.G96G;ENSG00000166377:ENST00000307671:exon3:c.G444T:p.G148G;ENSG00000166377:ENST00000586722:exon3:c.G444T:p.G148G;ENSG00000166377:ENST00000426216:exon3:c.G444T:p.G148G;ENSG00000166377:ENST00000586366:exon3:c.G444T:p.G148G;ENSG00000166377:ENST00000586672:exon2:c.G270T:p.G90G;	0.999896591885427	0.996
18	76870506	G	A	18	79110506	y	y	splicing	ATP9B(NM_198531:exon3:c.444+1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.444+1G>A;ENST00000426216:exon3:c.444+1G>A;ENST00000307671:exon3:c.444+1G>A;ENST00000586672:exon2:c.270+1G>A;ENST00000586722:exon3:c.444+1G>A;ENST00000458297:exon3:c.288+1G>A)	.	.	0.999986675681007	0.932
18	76870506	G	C	18	79110506	y	y	splicing	ATP9B(NM_198531:exon3:c.444+1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.444+1G>C;ENST00000426216:exon3:c.444+1G>C;ENST00000307671:exon3:c.444+1G>C;ENST00000586672:exon2:c.270+1G>C;ENST00000586722:exon3:c.444+1G>C;ENST00000458297:exon3:c.288+1G>C)	.	.	0.999986675681007	0.932
18	76870506	G	T	18	79110506	y	y	splicing	ATP9B(NM_198531:exon3:c.444+1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.444+1G>T;ENST00000426216:exon3:c.444+1G>T;ENST00000307671:exon3:c.444+1G>T;ENST00000586672:exon2:c.270+1G>T;ENST00000586722:exon3:c.444+1G>T;ENST00000458297:exon3:c.288+1G>T)	.	.	0.999986675681007	0.932
18	76870507	T	A	18	79110507	y	y	splicing	ATP9B(NM_198531:exon3:c.444+2T>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.444+2T>A;ENST00000426216:exon3:c.444+2T>A;ENST00000307671:exon3:c.444+2T>A;ENST00000586672:exon2:c.270+2T>A;ENST00000586722:exon3:c.444+2T>A;ENST00000458297:exon3:c.288+2T>A)	.	.	0.999988247793601	0.928
18	76870507	T	C	18	79110507	y	y	splicing	ATP9B(NM_198531:exon3:c.444+2T>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.444+2T>C;ENST00000426216:exon3:c.444+2T>C;ENST00000307671:exon3:c.444+2T>C;ENST00000586672:exon2:c.270+2T>C;ENST00000586722:exon3:c.444+2T>C;ENST00000458297:exon3:c.288+2T>C)	.	.	0.999897703382408	0.884
18	76870507	T	G	18	79110507	y	y	splicing	ATP9B(NM_198531:exon3:c.444+2T>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon3:c.444+2T>G;ENST00000426216:exon3:c.444+2T>G;ENST00000307671:exon3:c.444+2T>G;ENST00000586672:exon2:c.270+2T>G;ENST00000586722:exon3:c.444+2T>G;ENST00000458297:exon3:c.288+2T>G)	.	.	0.999988247793601	0.928
18	76870508	A	C	18	79110508	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999744295269898	0.938
18	76870508	A	G	18	79110508	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.991856051486926	0.726
18	76870508	A	T	18	79110508	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999712002652405	0.964
18	76870509	A	C	18	79110509	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.99849449973136	0.948
18	76870509	A	G	18	79110509	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997741420987038	0.964
18	76870509	A	T	18	79110509	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997306865943784	0.942
18	76870510	G	A	18	79110510	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999766832918698	0.992
18	76870510	G	C	18	79110510	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999051183833966	0.972
18	76870510	G	T	18	79110510	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999650296604172	0.946
18	76870511	A	C	18	79110511	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00152476291228367	0.028
18	76870511	A	G	18	79110511	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.24790478564891E-4	0.002
18	76870511	A	T	18	79110511	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.26443490355965E-4	0.018
18	76870512	C	A	18	79110512	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.02418137621806E-5	0.004
18	76870512	C	G	18	79110512	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.18924664478357E-5	0.0
18	76870512	C	T	18	79110512	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.23227786770975E-4	0.0
18	76870513	T	A	18	79110513	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.3883854658592E-4	0.004
18	76870513	T	C	18	79110513	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.39366949689957E-4	0.012
18	76870513	T	G	18	79110513	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.39366949689957E-4	0.012
18	76873229	T	A	18	79113229	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00358261598676919	0.124
18	76873229	T	C	18	79113229	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.38991974484945E-4	0.062
18	76873229	T	G	18	79113229	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00253492970175026	0.1
18	76873230	T	A	18	79113230	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.909984196498663	0.662
18	76873230	T	C	18	79113230	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.848868208423079	0.474
18	76873230	T	G	18	79113230	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.851748053516266	0.586
18	76873231	T	A	18	79113231	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.627796784859559	0.608
18	76873231	T	C	18	79113231	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.531204177331158	0.494
18	76873231	T	G	18	79113231	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.653308114810184	0.62
18	76873232	C	A	18	79113232	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.04833595603161E-4	0.044
18	76873232	C	G	18	79113232	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.12771601941019E-4	0.054
18	76873232	C	T	18	79113232	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.84046122800355E-5	0.006
18	76873233	C	A	18	79113233	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.43545015266342E-4	0.012
18	76873233	C	G	18	79113233	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.43545015266342E-4	0.02
18	76873233	C	T	18	79113233	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.73576632637893E-5	0.004
18	76873234	T	A	18	79113234	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00110207801288649	0.074
18	76873234	T	C	18	79113234	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.67137201371351E-4	0.002
18	76873234	T	G	18	79113234	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00140618696627314	0.076
18	76873235	T	A	18	79113235	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.238764749374006	0.434
18	76873235	T	C	18	79113235	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0147451494335049	0.196
18	76873235	T	G	18	79113235	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0561493099148908	0.408
18	76873236	T	A	18	79113236	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.689276299184217	0.694
18	76873236	T	C	18	79113236	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.589127983385567	0.486
18	76873236	T	G	18	79113236	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.519958296004159	0.692
18	76873237	T	A	18	79113237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.430385527248734	0.422
18	76873237	T	C	18	79113237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0642930063073617	0.276
18	76873237	T	G	18	79113237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.352639566787573	0.352
18	76873238	T	A	18	79113238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00392370379066787	0.07
18	76873238	T	C	18	79113238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.12814851298405E-4	0.01
18	76873238	T	G	18	79113238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.919792435812679	0.674
18	76873239	A	C	18	79113239	y	y	splicing	ATP9B(NM_198531:exon4:c.445-2A>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.445-2A>C;ENST00000426216:exon4:c.445-2A>C;ENST00000307671:exon4:c.445-2A>C;ENST00000586672:exon3:c.271-2A>C;ENST00000586722:exon4:c.445-2A>C;ENST00000458297:exon4:c.289-2A>C)	.	.	0.999988247793601	0.93
18	76873239	A	G	18	79113239	y	y	splicing	ATP9B(NM_198531:exon4:c.445-2A>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.445-2A>G;ENST00000426216:exon4:c.445-2A>G;ENST00000307671:exon4:c.445-2A>G;ENST00000586672:exon3:c.271-2A>G;ENST00000586722:exon4:c.445-2A>G;ENST00000458297:exon4:c.289-2A>G)	.	.	0.999988247793601	0.93
18	76873239	A	T	18	79113239	y	y	splicing	ATP9B(NM_198531:exon4:c.445-2A>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.445-2A>T;ENST00000426216:exon4:c.445-2A>T;ENST00000307671:exon4:c.445-2A>T;ENST00000586672:exon3:c.271-2A>T;ENST00000586722:exon4:c.445-2A>T;ENST00000458297:exon4:c.289-2A>T)	.	.	0.999988247793601	0.93
18	76873240	G	A	18	79113240	y	y	splicing	ATP9B(NM_198531:exon4:c.445-1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.445-1G>A;ENST00000426216:exon4:c.445-1G>A;ENST00000307671:exon4:c.445-1G>A;ENST00000586672:exon3:c.271-1G>A;ENST00000586722:exon4:c.445-1G>A;ENST00000458297:exon4:c.289-1G>A)	.	.	0.999990361384395	0.938
18	76873240	G	C	18	79113240	y	y	splicing	ATP9B(NM_198531:exon4:c.445-1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.445-1G>C;ENST00000426216:exon4:c.445-1G>C;ENST00000307671:exon4:c.445-1G>C;ENST00000586672:exon3:c.271-1G>C;ENST00000586722:exon4:c.445-1G>C;ENST00000458297:exon4:c.289-1G>C)	.	.	0.999990361384395	0.938
18	76873240	G	T	18	79113240	y	y	splicing	ATP9B(NM_198531:exon4:c.445-1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.445-1G>T;ENST00000426216:exon4:c.445-1G>T;ENST00000307671:exon4:c.445-1G>T;ENST00000586672:exon3:c.271-1G>T;ENST00000586722:exon4:c.445-1G>T;ENST00000458297:exon4:c.289-1G>T)	.	.	0.999990361384395	0.938
18	76873241	G	A	18	79113241	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.G445A:p.V149I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.G289A:p.V97I;ENSG00000166377:ENST00000307671:exon4:c.G445A:p.V149I;ENSG00000166377:ENST00000586722:exon4:c.G445A:p.V149I;ENSG00000166377:ENST00000426216:exon4:c.G445A:p.V149I;ENSG00000166377:ENST00000586366:exon4:c.G445A:p.V149I;ENSG00000166377:ENST00000586672:exon3:c.G271A:p.V91I;	0.997922414111114	0.792
18	76873241	G	C	18	79113241	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.G445C:p.V149L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.G289C:p.V97L;ENSG00000166377:ENST00000307671:exon4:c.G445C:p.V149L;ENSG00000166377:ENST00000586722:exon4:c.G445C:p.V149L;ENSG00000166377:ENST00000426216:exon4:c.G445C:p.V149L;ENSG00000166377:ENST00000586366:exon4:c.G445C:p.V149L;ENSG00000166377:ENST00000586672:exon3:c.G271C:p.V91L;	0.998045744004068	0.816
18	76873241	G	T	18	79113241	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.G445T:p.V149F;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.G289T:p.V97F;ENSG00000166377:ENST00000307671:exon4:c.G445T:p.V149F;ENSG00000166377:ENST00000586722:exon4:c.G445T:p.V149F;ENSG00000166377:ENST00000426216:exon4:c.G445T:p.V149F;ENSG00000166377:ENST00000586366:exon4:c.G445T:p.V149F;ENSG00000166377:ENST00000586672:exon3:c.G271T:p.V91F;	0.998752502402048	0.75
18	76873242	T	A	18	79113242	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.T446A:p.V149D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.T290A:p.V97D;ENSG00000166377:ENST00000307671:exon4:c.T446A:p.V149D;ENSG00000166377:ENST00000586722:exon4:c.T446A:p.V149D;ENSG00000166377:ENST00000426216:exon4:c.T446A:p.V149D;ENSG00000166377:ENST00000586366:exon4:c.T446A:p.V149D;ENSG00000166377:ENST00000586672:exon3:c.T272A:p.V91D;	0.454340709917171	0.604
18	76873242	T	C	18	79113242	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.T446C:p.V149A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.T290C:p.V97A;ENSG00000166377:ENST00000307671:exon4:c.T446C:p.V149A;ENSG00000166377:ENST00000586722:exon4:c.T446C:p.V149A;ENSG00000166377:ENST00000426216:exon4:c.T446C:p.V149A;ENSG00000166377:ENST00000586366:exon4:c.T446C:p.V149A;ENSG00000166377:ENST00000586672:exon3:c.T272C:p.V91A;	0.517784416805913	0.618
18	76873242	T	G	18	79113242	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.T446G:p.V149G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.T290G:p.V97G;ENSG00000166377:ENST00000307671:exon4:c.T446G:p.V149G;ENSG00000166377:ENST00000586722:exon4:c.T446G:p.V149G;ENSG00000166377:ENST00000426216:exon4:c.T446G:p.V149G;ENSG00000166377:ENST00000586366:exon4:c.T446G:p.V149G;ENSG00000166377:ENST00000586672:exon3:c.T272G:p.V91G;	0.454340709917171	0.612
18	76873352	C	A	18	79113352	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.C556A:p.L186M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.C400A:p.L134M;ENSG00000166377:ENST00000307671:exon4:c.C556A:p.L186M;ENSG00000166377:ENST00000586722:exon4:c.C556A:p.L186M;ENSG00000166377:ENST00000426216:exon4:c.C556A:p.L186M;ENSG00000166377:ENST00000586366:exon4:c.C556A:p.L186M;ENSG00000166377:ENST00000586672:exon3:c.C382A:p.L128M;	0.963945605348832	0.79
18	76873352	C	G	18	79113352	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.C556G:p.L186V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.C400G:p.L134V;ENSG00000166377:ENST00000307671:exon4:c.C556G:p.L186V;ENSG00000166377:ENST00000586722:exon4:c.C556G:p.L186V;ENSG00000166377:ENST00000426216:exon4:c.C556G:p.L186V;ENSG00000166377:ENST00000586366:exon4:c.C556G:p.L186V;ENSG00000166377:ENST00000586672:exon3:c.C382G:p.L128V;	0.955566529898179	0.644
18	76873352	C	T	18	79113352	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon4:c.C556T:p.L186L;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.C400T:p.L134L;ENSG00000166377:ENST00000307671:exon4:c.C556T:p.L186L;ENSG00000166377:ENST00000586722:exon4:c.C556T:p.L186L;ENSG00000166377:ENST00000426216:exon4:c.C556T:p.L186L;ENSG00000166377:ENST00000586366:exon4:c.C556T:p.L186L;ENSG00000166377:ENST00000586672:exon3:c.C382T:p.L128L;	0.989156933536989	0.618
18	76873353	T	A	18	79113353	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.T557A:p.L186Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.T401A:p.L134Q;ENSG00000166377:ENST00000307671:exon4:c.T557A:p.L186Q;ENSG00000166377:ENST00000586722:exon4:c.T557A:p.L186Q;ENSG00000166377:ENST00000426216:exon4:c.T557A:p.L186Q;ENSG00000166377:ENST00000586366:exon4:c.T557A:p.L186Q;ENSG00000166377:ENST00000586672:exon3:c.T383A:p.L128Q;	0.755862015627366	0.6
18	76873353	T	C	18	79113353	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.T557C:p.L186P;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.T401C:p.L134P;ENSG00000166377:ENST00000307671:exon4:c.T557C:p.L186P;ENSG00000166377:ENST00000586722:exon4:c.T557C:p.L186P;ENSG00000166377:ENST00000426216:exon4:c.T557C:p.L186P;ENSG00000166377:ENST00000586366:exon4:c.T557C:p.L186P;ENSG00000166377:ENST00000586672:exon3:c.T383C:p.L128P;	0.958826579791331	0.804
18	76873353	T	G	18	79113353	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon4:c.T557G:p.L186R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.T401G:p.L134R;ENSG00000166377:ENST00000307671:exon4:c.T557G:p.L186R;ENSG00000166377:ENST00000586722:exon4:c.T557G:p.L186R;ENSG00000166377:ENST00000426216:exon4:c.T557G:p.L186R;ENSG00000166377:ENST00000586366:exon4:c.T557G:p.L186R;ENSG00000166377:ENST00000586672:exon3:c.T383G:p.L128R;	0.886667638025484	0.802
18	76873354	G	A	18	79113354	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon4:c.G558A:p.L186L;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.G402A:p.L134L;ENSG00000166377:ENST00000307671:exon4:c.G558A:p.L186L;ENSG00000166377:ENST00000586722:exon4:c.G558A:p.L186L;ENSG00000166377:ENST00000426216:exon4:c.G558A:p.L186L;ENSG00000166377:ENST00000586366:exon4:c.G558A:p.L186L;ENSG00000166377:ENST00000586672:exon3:c.G384A:p.L128L;	0.9999804815784	0.99
18	76873354	G	C	18	79113354	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon4:c.G558C:p.L186L;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.G402C:p.L134L;ENSG00000166377:ENST00000307671:exon4:c.G558C:p.L186L;ENSG00000166377:ENST00000586722:exon4:c.G558C:p.L186L;ENSG00000166377:ENST00000426216:exon4:c.G558C:p.L186L;ENSG00000166377:ENST00000586366:exon4:c.G558C:p.L186L;ENSG00000166377:ENST00000586672:exon3:c.G384C:p.L128L;	0.999993787225227	0.966
18	76873354	G	T	18	79113354	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon4:c.G558T:p.L186L;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000458297:exon4:c.G402T:p.L134L;ENSG00000166377:ENST00000307671:exon4:c.G558T:p.L186L;ENSG00000166377:ENST00000586722:exon4:c.G558T:p.L186L;ENSG00000166377:ENST00000426216:exon4:c.G558T:p.L186L;ENSG00000166377:ENST00000586366:exon4:c.G558T:p.L186L;ENSG00000166377:ENST00000586672:exon3:c.G384T:p.L128L;	0.999982065960726	0.986
18	76873355	G	A	18	79113355	y	y	splicing	ATP9B(NM_198531:exon4:c.558+1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.558+1G>A;ENST00000426216:exon4:c.558+1G>A;ENST00000307671:exon4:c.558+1G>A;ENST00000586672:exon3:c.384+1G>A;ENST00000586722:exon4:c.558+1G>A;ENST00000458297:exon4:c.402+1G>A)	.	.	0.999989072007339	0.934
18	76873355	G	C	18	79113355	y	y	splicing	ATP9B(NM_198531:exon4:c.558+1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.558+1G>C;ENST00000426216:exon4:c.558+1G>C;ENST00000307671:exon4:c.558+1G>C;ENST00000586672:exon3:c.384+1G>C;ENST00000586722:exon4:c.558+1G>C;ENST00000458297:exon4:c.402+1G>C)	.	.	0.999989072007339	0.934
18	76873355	G	T	18	79113355	y	y	splicing	ATP9B(NM_198531:exon4:c.558+1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.558+1G>T;ENST00000426216:exon4:c.558+1G>T;ENST00000307671:exon4:c.558+1G>T;ENST00000586672:exon3:c.384+1G>T;ENST00000586722:exon4:c.558+1G>T;ENST00000458297:exon4:c.402+1G>T)	.	.	0.999989072007339	0.934
18	76873356	T	A	18	79113356	y	y	splicing	ATP9B(NM_198531:exon4:c.558+2T>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.558+2T>A;ENST00000426216:exon4:c.558+2T>A;ENST00000307671:exon4:c.558+2T>A;ENST00000586672:exon3:c.384+2T>A;ENST00000586722:exon4:c.558+2T>A;ENST00000458297:exon4:c.402+2T>A)	.	.	0.999988247793601	0.932
18	76873356	T	C	18	79113356	y	y	splicing	ATP9B(NM_198531:exon4:c.558+2T>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.558+2T>C;ENST00000426216:exon4:c.558+2T>C;ENST00000307671:exon4:c.558+2T>C;ENST00000586672:exon3:c.384+2T>C;ENST00000586722:exon4:c.558+2T>C;ENST00000458297:exon4:c.402+2T>C)	.	.	0.999931547473318	0.884
18	76873356	T	G	18	79113356	y	y	splicing	ATP9B(NM_198531:exon4:c.558+2T>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon4:c.558+2T>G;ENST00000426216:exon4:c.558+2T>G;ENST00000307671:exon4:c.558+2T>G;ENST00000586672:exon3:c.384+2T>G;ENST00000586722:exon4:c.558+2T>G;ENST00000458297:exon4:c.402+2T>G)	.	.	0.999988247793601	0.932
18	76873357	A	C	18	79113357	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.989036091900292	0.822
18	76873357	A	G	18	79113357	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00948611737739057	0.234
18	76873357	A	T	18	79113357	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.995848312471326	0.816
18	76873358	A	C	18	79113358	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.797120730962599	0.44
18	76873358	A	G	18	79113358	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.801583007210906	0.614
18	76873358	A	T	18	79113358	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.886243494170774	0.584
18	76873359	G	A	18	79113359	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.988890734545621	0.858
18	76873359	G	C	18	79113359	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.991696799010059	0.81
18	76873359	G	T	18	79113359	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.956262444190852	0.716
18	76873360	A	C	18	79113360	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0337272112666079	0.208
18	76873360	A	G	18	79113360	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0112421349910209	0.06
18	76873360	A	T	18	79113360	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00551833747023002	0.058
18	76873361	A	C	18	79113361	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00133414964176908	0.002
18	76873361	A	G	18	79113361	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.2339034785163E-4	0.004
18	76873361	A	T	18	79113361	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.2339034785163E-4	0.008
18	76873362	A	C	18	79113362	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00352159123232237	0.002
18	76873362	A	G	18	79113362	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00133414964176908	0.004
18	76873362	A	T	18	79113362	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00451608080234341	0.028
18	76874982	C	A	18	79114982	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.00286289604843E-5	0.0
18	76874982	C	G	18	79114982	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.94405013182015E-5	0.0
18	76874982	C	T	18	79114982	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.00286289604843E-5	0.0
18	76874983	C	A	18	79114983	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.00286289604843E-5	0.0
18	76874983	C	G	18	79114983	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.94405013182015E-5	0.0
18	76874983	C	T	18	79114983	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.00286289604843E-5	0.0
18	76874984	C	A	18	79114984	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.69831625241199E-5	0.0
18	76874984	C	G	18	79114984	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.39429174022201E-5	0.002
18	76874984	C	T	18	79114984	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.69831625241199E-5	0.0
18	76874985	T	A	18	79114985	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.25174383013797E-5	0.004
18	76874985	T	C	18	79114985	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.25174383013797E-5	0.004
18	76874985	T	G	18	79114985	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.25174383013797E-5	0.004
18	76874986	G	A	18	79114986	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.75258639471037E-5	0.01
18	76874986	G	C	18	79114986	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.75258639471037E-5	0.01
18	76874986	G	T	18	79114986	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.75258639471037E-5	0.01
18	76874987	T	A	18	79114987	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.94405013182015E-5	0.0
18	76874987	T	C	18	79114987	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.94405013182015E-5	0.0
18	76874987	T	G	18	79114987	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.94405013182015E-5	0.0
18	76874988	T	A	18	79114988	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874988	T	C	18	79114988	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874988	T	G	18	79114988	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874989	T	A	18	79114989	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874989	T	C	18	79114989	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874989	T	G	18	79114989	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874990	G	A	18	79114990	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874990	G	C	18	79114990	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874990	G	T	18	79114990	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874991	C	A	18	79114991	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874991	C	G	18	79114991	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874991	C	T	18	79114991	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62951115444098E-5	.
18	76874992	A	C	18	79114992	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000586722:exon5:c.559-2A>C;ENST00000458297:exon5:c.403-2A>C)	.	.	8.04741149915011E-5	.
18	76874992	A	G	18	79114992	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000586722:exon5:c.559-2A>G;ENST00000458297:exon5:c.403-2A>G)	.	.	8.04741149915011E-5	.
18	76874992	A	T	18	79114992	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000586722:exon5:c.559-2A>T;ENST00000458297:exon5:c.403-2A>T)	.	.	1.36879195627169E-4	.
18	76874993	G	A	18	79114993	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000586722:exon5:c.559-1G>A;ENST00000458297:exon5:c.403-1G>A)	.	.	5.50570520811733E-5	.
18	76874993	G	C	18	79114993	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000586722:exon5:c.559-1G>C;ENST00000458297:exon5:c.403-1G>C)	.	.	5.10250552304391E-5	.
18	76874993	G	T	18	79114993	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000586722:exon5:c.559-1G>T;ENST00000458297:exon5:c.403-1G>T)	.	.	5.10250552304391E-5	.
18	76874994	A	C	18	79114994	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon5:c.A403C:p.M135L;ENSG00000166377:ENST00000586722:exon5:c.A559C:p.M187L;	6.46478915842669E-5	.
18	76874994	A	G	18	79114994	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon5:c.A403G:p.M135V;ENSG00000166377:ENST00000586722:exon5:c.A559G:p.M187V;	4.83450445288968E-5	.
18	76874994	A	T	18	79114994	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon5:c.A403T:p.M135L;ENSG00000166377:ENST00000586722:exon5:c.A559T:p.M187L;	3.5644928306688E-5	.
18	76874995	T	A	18	79114995	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon5:c.T404A:p.M135K;ENSG00000166377:ENST00000586722:exon5:c.T560A:p.M187K;	9.89422454780677E-5	.
18	76874995	T	C	18	79114995	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon5:c.T404C:p.M135T;ENSG00000166377:ENST00000586722:exon5:c.T560C:p.M187T;	5.10250552304391E-5	.
18	76874995	T	G	18	79114995	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000458297:exon5:c.T404G:p.M135R;ENSG00000166377:ENST00000586722:exon5:c.T560G:p.M187R;	8.04741149915011E-5	.
18	76886255	T	A	18	79126255	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.22790983841113E-4	0.088
18	76886255	T	C	18	79126255	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.75843265062566E-5	0.0
18	76886255	T	G	18	79126255	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.41545996877466E-4	0.098
18	76886256	T	A	18	79126256	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.221561931424644	0.44
18	76886256	T	C	18	79126256	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.91450884361305E-4	0.042
18	76886256	T	G	18	79126256	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.045018283418413	0.374
18	76886257	T	A	18	79126257	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999866242173485	0.976
18	76886257	T	C	18	79126257	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.72011649856247E-4	0.028
18	76886257	T	G	18	79126257	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.107144693749914	0.42
18	76886258	G	A	18	79126258	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.40381957350717E-5	0.004
18	76886258	G	C	18	79126258	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.63354716910922E-6	0.004
18	76886258	G	T	18	79126258	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.76321869437532E-5	0.008
18	76886259	T	A	18	79126259	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.373078460269345	0.366
18	76886259	T	C	18	79126259	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.14463554128918E-4	0.008
18	76886259	T	G	18	79126259	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0301873342263851	0.334
18	76886260	T	A	18	79126260	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0211411475087484	0.128
18	76886260	T	C	18	79126260	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.74410805883236E-5	0.0
18	76886260	T	G	18	79126260	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00223355375822281	0.094
18	76886261	T	A	18	79126261	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.711141140334689	0.488
18	76886261	T	C	18	79126261	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.46627628912366E-4	0.024
18	76886261	T	G	18	79126261	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.850014680502732	0.534
18	76886262	T	A	18	79126262	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.165743155970819	0.364
18	76886262	T	C	18	79126262	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.25840551217437E-4	0.002
18	76886262	T	G	18	79126262	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.167045912146388	0.318
18	76886263	A	C	18	79126263	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.98989747728123E-5	0.0
18	76886263	A	G	18	79126263	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.20418551176059E-4	0.006
18	76886263	A	T	18	79126263	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.94498638090032E-5	0.01
18	76886264	T	A	18	79126264	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0211939570588609	0.306
18	76886264	T	C	18	79126264	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.47762221282149E-5	0.01
18	76886264	T	G	18	79126264	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.990966569178206	0.652
18	76886265	A	C	18	79126265	y	y	splicing	ATP9B(NM_198531:exon5:c.559-2A>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.559-2A>C;ENST00000426216:exon5:c.559-2A>C;ENST00000307671:exon5:c.559-2A>C;ENST00000586672:exon4:c.385-2A>C)	.	.	0.999988247793601	0.93
18	76886265	A	G	18	79126265	y	y	splicing	ATP9B(NM_198531:exon5:c.559-2A>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.559-2A>G;ENST00000426216:exon5:c.559-2A>G;ENST00000307671:exon5:c.559-2A>G;ENST00000586672:exon4:c.385-2A>G)	.	.	0.999988247793601	0.93
18	76886265	A	T	18	79126265	y	y	splicing	ATP9B(NM_198531:exon5:c.559-2A>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.559-2A>T;ENST00000426216:exon5:c.559-2A>T;ENST00000307671:exon5:c.559-2A>T;ENST00000586672:exon4:c.385-2A>T)	.	.	0.999988247793601	0.93
18	76886266	G	A	18	79126266	y	y	splicing	ATP9B(NM_198531:exon5:c.559-1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.559-1G>A;ENST00000426216:exon5:c.559-1G>A;ENST00000307671:exon5:c.559-1G>A;ENST00000586672:exon4:c.385-1G>A)	.	.	0.999989072007339	0.934
18	76886266	G	C	18	79126266	y	y	splicing	ATP9B(NM_198531:exon5:c.559-1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.559-1G>C;ENST00000426216:exon5:c.559-1G>C;ENST00000307671:exon5:c.559-1G>C;ENST00000586672:exon4:c.385-1G>C)	.	.	0.999989072007339	0.934
18	76886266	G	T	18	79126266	y	y	splicing	ATP9B(NM_198531:exon5:c.559-1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.559-1G>T;ENST00000426216:exon5:c.559-1G>T;ENST00000307671:exon5:c.559-1G>T;ENST00000586672:exon4:c.385-1G>T)	.	.	0.999989072007339	0.934
18	76886267	G	A	18	79126267	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G559A:p.G187R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G559A:p.G187R;ENSG00000166377:ENST00000426216:exon5:c.G559A:p.G187R;ENSG00000166377:ENST00000586366:exon5:c.G559A:p.G187R;ENSG00000166377:ENST00000586672:exon4:c.G385A:p.G129R;	0.996431478721649	0.932
18	76886267	G	C	18	79126267	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G559C:p.G187R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G559C:p.G187R;ENSG00000166377:ENST00000426216:exon5:c.G559C:p.G187R;ENSG00000166377:ENST00000586366:exon5:c.G559C:p.G187R;ENSG00000166377:ENST00000586672:exon4:c.G385C:p.G129R;	0.999768378864449	0.926
18	76886267	G	T	18	79126267	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon5:c.G559T:p.G187X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon5:c.G559T:p.G187X;ENSG00000166377:ENST00000426216:exon5:c.G559T:p.G187X;ENSG00000166377:ENST00000586366:exon5:c.G559T:p.G187X;ENSG00000166377:ENST00000586672:exon4:c.G385T:p.G129X;	0.999875262372235	0.954
18	76886268	G	A	18	79126268	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G560A:p.G187E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G560A:p.G187E;ENSG00000166377:ENST00000426216:exon5:c.G560A:p.G187E;ENSG00000166377:ENST00000586366:exon5:c.G560A:p.G187E;ENSG00000166377:ENST00000586672:exon4:c.G386A:p.G129E;	0.977727741316216	0.896
18	76886268	G	C	18	79126268	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G560C:p.G187A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G560C:p.G187A;ENSG00000166377:ENST00000426216:exon5:c.G560C:p.G187A;ENSG00000166377:ENST00000586366:exon5:c.G560C:p.G187A;ENSG00000166377:ENST00000586672:exon4:c.G386C:p.G129A;	0.0016448873984715	0.056
18	76886268	G	T	18	79126268	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G560T:p.G187V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G560T:p.G187V;ENSG00000166377:ENST00000426216:exon5:c.G560T:p.G187V;ENSG00000166377:ENST00000586366:exon5:c.G560T:p.G187V;ENSG00000166377:ENST00000586672:exon4:c.G386T:p.G129V;	0.851240122393337	0.744
18	76886373	G	A	18	79126373	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G665A:p.R222K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G665A:p.R222K;ENSG00000166377:ENST00000426216:exon5:c.G665A:p.R222K;ENSG00000166377:ENST00000586366:exon5:c.G665A:p.R222K;ENSG00000166377:ENST00000586672:exon4:c.G491A:p.R164K;	1.58870745816839E-4	0.054
18	76886373	G	C	18	79126373	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G665C:p.R222T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G665C:p.R222T;ENSG00000166377:ENST00000426216:exon5:c.G665C:p.R222T;ENSG00000166377:ENST00000586366:exon5:c.G665C:p.R222T;ENSG00000166377:ENST00000586672:exon4:c.G491C:p.R164T;	1.58870745816839E-4	0.062
18	76886373	G	T	18	79126373	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G665T:p.R222I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G665T:p.R222I;ENSG00000166377:ENST00000426216:exon5:c.G665T:p.R222I;ENSG00000166377:ENST00000586366:exon5:c.G665T:p.R222I;ENSG00000166377:ENST00000586672:exon4:c.G491T:p.R164I;	0.0102027498466184	0.186
18	76886374	A	C	18	79126374	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.A666C:p.R222S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.A666C:p.R222S;ENSG00000166377:ENST00000426216:exon5:c.A666C:p.R222S;ENSG00000166377:ENST00000586366:exon5:c.A666C:p.R222S;ENSG00000166377:ENST00000586672:exon4:c.A492C:p.R164S;	0.989367778475137	0.754
18	76886374	A	G	18	79126374	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon5:c.A666G:p.R222R;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.A666G:p.R222R;ENSG00000166377:ENST00000426216:exon5:c.A666G:p.R222R;ENSG00000166377:ENST00000586366:exon5:c.A666G:p.R222R;ENSG00000166377:ENST00000586672:exon4:c.A492G:p.R164R;	0.999678493764261	0.782
18	76886374	A	T	18	79126374	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.A666T:p.R222S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.A666T:p.R222S;ENSG00000166377:ENST00000426216:exon5:c.A666T:p.R222S;ENSG00000166377:ENST00000586366:exon5:c.A666T:p.R222S;ENSG00000166377:ENST00000586672:exon4:c.A492T:p.R164S;	0.999670921904969	0.852
18	76886375	G	A	18	79126375	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G667A:p.G223S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G667A:p.G223S;ENSG00000166377:ENST00000426216:exon5:c.G667A:p.G223S;ENSG00000166377:ENST00000586366:exon5:c.G667A:p.G223S;ENSG00000166377:ENST00000586672:exon4:c.G493A:p.G165S;	0.999991727062462	0.978
18	76886375	G	C	18	79126375	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G667C:p.G223R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G667C:p.G223R;ENSG00000166377:ENST00000426216:exon5:c.G667C:p.G223R;ENSG00000166377:ENST00000586366:exon5:c.G667C:p.G223R;ENSG00000166377:ENST00000586672:exon4:c.G493C:p.G165R;	0.999994190353472	0.936
18	76886375	G	T	18	79126375	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon5:c.G667T:p.G223C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon5:c.G667T:p.G223C;ENSG00000166377:ENST00000426216:exon5:c.G667T:p.G223C;ENSG00000166377:ENST00000586366:exon5:c.G667T:p.G223C;ENSG00000166377:ENST00000586672:exon4:c.G493T:p.G165C;	0.999991018996566	0.96
18	76886376	G	A	18	79126376	y	y	splicing	ATP9B(NM_198531:exon5:c.667+1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.667+1G>A;ENST00000426216:exon5:c.667+1G>A;ENST00000307671:exon5:c.667+1G>A;ENST00000586672:exon4:c.493+1G>A)	.	.	0.999989072007339	0.95
18	76886376	G	C	18	79126376	y	y	splicing	ATP9B(NM_198531:exon5:c.667+1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.667+1G>C;ENST00000426216:exon5:c.667+1G>C;ENST00000307671:exon5:c.667+1G>C;ENST00000586672:exon4:c.493+1G>C)	.	.	0.999980428708689	0.95
18	76886376	G	T	18	79126376	y	y	splicing	ATP9B(NM_198531:exon5:c.667+1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.667+1G>T;ENST00000426216:exon5:c.667+1G>T;ENST00000307671:exon5:c.667+1G>T;ENST00000586672:exon4:c.493+1G>T)	.	.	0.999989072007339	0.95
18	76886377	T	A	18	79126377	y	y	splicing	ATP9B(NM_198531:exon5:c.667+2T>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.667+2T>A;ENST00000426216:exon5:c.667+2T>A;ENST00000307671:exon5:c.667+2T>A;ENST00000586672:exon4:c.493+2T>A)	.	.	0.999970661931818	0.948
18	76886377	T	C	18	79126377	y	y	splicing	ATP9B(NM_198531:exon5:c.667+2T>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.667+2T>C;ENST00000426216:exon5:c.667+2T>C;ENST00000307671:exon5:c.667+2T>C;ENST00000586672:exon4:c.493+2T>C)	.	.	0.999604035398332	0.898
18	76886377	T	G	18	79126377	y	y	splicing	ATP9B(NM_198531:exon5:c.667+2T>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon5:c.667+2T>G;ENST00000426216:exon5:c.667+2T>G;ENST00000307671:exon5:c.667+2T>G;ENST00000586672:exon4:c.493+2T>G)	.	.	0.99994568797423	0.94
18	76886378	C	A	18	79126378	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.41881517563207E-5	0.026
18	76886378	C	G	18	79126378	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.04292403524834E-5	0.044
18	76886378	C	T	18	79126378	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.05208870976934E-4	0.018
18	76886379	A	C	18	79126379	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.914408414578803	0.702
18	76886379	A	G	18	79126379	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.840632490825218	0.622
18	76886379	A	T	18	79126379	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.719056253630307	0.652
18	76886380	G	A	18	79126380	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999971784536592	0.982
18	76886380	G	C	18	79126380	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999982618340904	0.994
18	76886380	G	T	18	79126380	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999968807820064	0.99
18	76886381	C	A	18	79126381	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00159320493022537	0.096
18	76886381	C	G	18	79126381	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00140261316374089	0.056
18	76886381	C	T	18	79126381	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.79475409560703E-4	0.032
18	76886382	A	C	18	79126382	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.46197596752079E-4	0.01
18	76886382	A	G	18	79126382	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.59927353340182E-4	0.058
18	76886382	A	T	18	79126382	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00157251181072008	0.008
18	76886383	A	C	18	79126383	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.65533763961861E-4	0.0
18	76886383	A	G	18	79126383	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.65533763961861E-4	0.0
18	76886383	A	T	18	79126383	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.65907420805349E-4	0.01
18	76903790	T	A	18	79143790	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.44787367950478E-4	0.128
18	76903790	T	C	18	79143790	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.71242760877603E-5	0.03
18	76903790	T	G	18	79143790	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.7282630466547E-4	0.08
18	76903791	C	A	18	79143791	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.75739562681532E-4	0.038
18	76903791	C	G	18	79143791	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.52981122055317E-4	0.024
18	76903791	C	T	18	79143791	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.69731567468307E-5	0.022
18	76903792	T	A	18	79143792	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0137378429915571	0.21
18	76903792	T	C	18	79143792	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.63396929991278E-4	0.054
18	76903792	T	G	18	79143792	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00331517419355775	0.14
18	76903793	T	A	18	79143793	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.933695738844E-5	0.112
18	76903793	T	C	18	79143793	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.10152377514103E-6	0.036
18	76903793	T	G	18	79143793	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.55636558906166E-5	0.098
18	76903794	T	A	18	79143794	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0130704132706143	0.164
18	76903794	T	C	18	79143794	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.55846873983953E-4	0.02
18	76903794	T	G	18	79143794	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.27311934719268E-4	0.062
18	76903795	T	A	18	79143795	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00837706283545097	0.124
18	76903795	T	C	18	79143795	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.25014522911809E-4	0.01
18	76903795	T	G	18	79143795	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00604966545484159	0.062
18	76903796	T	A	18	79143796	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.166071782618792	0.26
18	76903796	T	C	18	79143796	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00207669618680628	0.142
18	76903796	T	G	18	79143796	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.063122047712542	0.244
18	76903797	T	A	18	79143797	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0483355146248702	0.338
18	76903797	T	C	18	79143797	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0070904163715341	0.116
18	76903797	T	G	18	79143797	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.603996566870273	0.4
18	76903798	T	A	18	79143798	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.28005917843632E-4	0.022
18	76903798	T	C	18	79143798	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.46479136748147E-4	0.01
18	76903798	T	G	18	79143798	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.14830437035382E-4	0.018
18	76903799	A	C	18	79143799	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.90333803851423E-5	0.022
18	76903799	A	G	18	79143799	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.288902798034733	0.32
18	76903799	A	T	18	79143799	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.5336503446922E-5	0.01
18	76903800	A	C	18	79143800	y	y	splicing	ATP9B(NM_198531:exon6:c.668-2A>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.668-2A>C;ENST00000426216:exon6:c.668-2A>C;ENST00000307671:exon6:c.668-2A>C;ENST00000586672:exon5:c.494-2A>C)	.	.	0.999989917668626	0.926
18	76903800	A	G	18	79143800	y	y	splicing	ATP9B(NM_198531:exon6:c.668-2A>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.668-2A>G;ENST00000426216:exon6:c.668-2A>G;ENST00000307671:exon6:c.668-2A>G;ENST00000586672:exon5:c.494-2A>G)	.	.	0.999989917668626	0.926
18	76903800	A	T	18	79143800	y	y	splicing	ATP9B(NM_198531:exon6:c.668-2A>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.668-2A>T;ENST00000426216:exon6:c.668-2A>T;ENST00000307671:exon6:c.668-2A>T;ENST00000586672:exon5:c.494-2A>T)	.	.	0.999989917668626	0.926
18	76903801	G	A	18	79143801	y	y	splicing	ATP9B(NM_198531:exon6:c.668-1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.668-1G>A;ENST00000426216:exon6:c.668-1G>A;ENST00000307671:exon6:c.668-1G>A;ENST00000586672:exon5:c.494-1G>A)	.	.	0.999981760802075	0.94
18	76903801	G	C	18	79143801	y	y	splicing	ATP9B(NM_198531:exon6:c.668-1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.668-1G>C;ENST00000426216:exon6:c.668-1G>C;ENST00000307671:exon6:c.668-1G>C;ENST00000586672:exon5:c.494-1G>C)	.	.	0.999981760802075	0.938
18	76903801	G	T	18	79143801	y	y	splicing	ATP9B(NM_198531:exon6:c.668-1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.668-1G>T;ENST00000426216:exon6:c.668-1G>T;ENST00000307671:exon6:c.668-1G>T;ENST00000586672:exon5:c.494-1G>T)	.	.	0.999981760802075	0.94
18	76903802	G	A	18	79143802	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.G668A:p.G223D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.G668A:p.G223D;ENSG00000166377:ENST00000426216:exon6:c.G668A:p.G223D;ENSG00000166377:ENST00000586366:exon6:c.G668A:p.G223D;ENSG00000166377:ENST00000586672:exon5:c.G494A:p.G165D;	0.997604568601407	0.914
18	76903802	G	C	18	79143802	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.G668C:p.G223A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.G668C:p.G223A;ENSG00000166377:ENST00000426216:exon6:c.G668C:p.G223A;ENSG00000166377:ENST00000586366:exon6:c.G668C:p.G223A;ENSG00000166377:ENST00000586672:exon5:c.G494C:p.G165A;	0.999376798175325	0.96
18	76903802	G	T	18	79143802	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.G668T:p.G223V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.G668T:p.G223V;ENSG00000166377:ENST00000426216:exon6:c.G668T:p.G223V;ENSG00000166377:ENST00000586366:exon6:c.G668T:p.G223V;ENSG00000166377:ENST00000586672:exon5:c.G494T:p.G165V;	0.999816722252459	0.998
18	76903803	T	A	18	79143803	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon6:c.T669A:p.G223G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.T669A:p.G223G;ENSG00000166377:ENST00000426216:exon6:c.T669A:p.G223G;ENSG00000166377:ENST00000586366:exon6:c.T669A:p.G223G;ENSG00000166377:ENST00000586672:exon5:c.T495A:p.G165G;	0.00723624798178145	0.064
18	76903803	T	C	18	79143803	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon6:c.T669C:p.G223G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.T669C:p.G223G;ENSG00000166377:ENST00000426216:exon6:c.T669C:p.G223G;ENSG00000166377:ENST00000586366:exon6:c.T669C:p.G223G;ENSG00000166377:ENST00000586672:exon5:c.T495C:p.G165G;	0.00362624882652931	0.06
18	76903803	T	G	18	79143803	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon6:c.T669G:p.G223G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.T669G:p.G223G;ENSG00000166377:ENST00000426216:exon6:c.T669G:p.G223G;ENSG00000166377:ENST00000586366:exon6:c.T669G:p.G223G;ENSG00000166377:ENST00000586672:exon5:c.T495G:p.G165G;	8.0673740712832E-4	0.014
18	76903858	A	C	18	79143858	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.A724C:p.K242Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.A724C:p.K242Q;ENSG00000166377:ENST00000426216:exon6:c.A724C:p.K242Q;ENSG00000166377:ENST00000586366:exon6:c.A724C:p.K242Q;ENSG00000166377:ENST00000586672:exon5:c.A550C:p.K184Q;	0.754177798690973	0.74
18	76903858	A	G	18	79143858	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.A724G:p.K242E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.A724G:p.K242E;ENSG00000166377:ENST00000426216:exon6:c.A724G:p.K242E;ENSG00000166377:ENST00000586366:exon6:c.A724G:p.K242E;ENSG00000166377:ENST00000586672:exon5:c.A550G:p.K184E;	0.658647596894542	0.442
18	76903858	A	T	18	79143858	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon6:c.A724T:p.K242X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon6:c.A724T:p.K242X;ENSG00000166377:ENST00000426216:exon6:c.A724T:p.K242X;ENSG00000166377:ENST00000586366:exon6:c.A724T:p.K242X;ENSG00000166377:ENST00000586672:exon5:c.A550T:p.K184X;	0.998518487326787	0.824
18	76903859	A	C	18	79143859	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.A725C:p.K242T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.A725C:p.K242T;ENSG00000166377:ENST00000426216:exon6:c.A725C:p.K242T;ENSG00000166377:ENST00000586366:exon6:c.A725C:p.K242T;ENSG00000166377:ENST00000586672:exon5:c.A551C:p.K184T;	0.999861471585151	0.99
18	76903859	A	G	18	79143859	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.A725G:p.K242R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.A725G:p.K242R;ENSG00000166377:ENST00000426216:exon6:c.A725G:p.K242R;ENSG00000166377:ENST00000586366:exon6:c.A725G:p.K242R;ENSG00000166377:ENST00000586672:exon5:c.A551G:p.K184R;	0.999902921739943	0.99
18	76903859	A	T	18	79143859	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.A725T:p.K242M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.A725T:p.K242M;ENSG00000166377:ENST00000426216:exon6:c.A725T:p.K242M;ENSG00000166377:ENST00000586366:exon6:c.A725T:p.K242M;ENSG00000166377:ENST00000586672:exon5:c.A551T:p.K184M;	0.999819375946938	0.992
18	76903860	G	A	18	79143860	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon6:c.G726A:p.K242K;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.G726A:p.K242K;ENSG00000166377:ENST00000426216:exon6:c.G726A:p.K242K;ENSG00000166377:ENST00000586366:exon6:c.G726A:p.K242K;ENSG00000166377:ENST00000586672:exon5:c.G552A:p.K184K;	0.999957926871497	0.994
18	76903860	G	C	18	79143860	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.G726C:p.K242N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.G726C:p.K242N;ENSG00000166377:ENST00000426216:exon6:c.G726C:p.K242N;ENSG00000166377:ENST00000586366:exon6:c.G726C:p.K242N;ENSG00000166377:ENST00000586672:exon5:c.G552C:p.K184N;	0.999979012619707	0.996
18	76903860	G	T	18	79143860	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon6:c.G726T:p.K242N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon6:c.G726T:p.K242N;ENSG00000166377:ENST00000426216:exon6:c.G726T:p.K242N;ENSG00000166377:ENST00000586366:exon6:c.G726T:p.K242N;ENSG00000166377:ENST00000586672:exon5:c.G552T:p.K184N;	0.999959455030092	0.994
18	76903861	G	A	18	79143861	y	y	splicing	ATP9B(NM_198531:exon6:c.726+1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.726+1G>A;ENST00000426216:exon6:c.726+1G>A;ENST00000307671:exon6:c.726+1G>A;ENST00000586672:exon5:c.552+1G>A)	.	.	0.999968021563937	0.916
18	76903861	G	C	18	79143861	y	y	splicing	ATP9B(NM_198531:exon6:c.726+1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.726+1G>C;ENST00000426216:exon6:c.726+1G>C;ENST00000307671:exon6:c.726+1G>C;ENST00000586672:exon5:c.552+1G>C)	.	.	0.999968021563937	0.916
18	76903861	G	T	18	79143861	y	y	splicing	ATP9B(NM_198531:exon6:c.726+1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.726+1G>T;ENST00000426216:exon6:c.726+1G>T;ENST00000307671:exon6:c.726+1G>T;ENST00000586672:exon5:c.552+1G>T)	.	.	0.999968021563937	0.916
18	76903862	T	A	18	79143862	y	y	splicing	ATP9B(NM_198531:exon6:c.726+2T>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.726+2T>A;ENST00000426216:exon6:c.726+2T>A;ENST00000307671:exon6:c.726+2T>A;ENST00000586672:exon5:c.552+2T>A)	.	.	0.999987293550401	0.914
18	76903862	T	C	18	79143862	y	y	splicing	ATP9B(NM_198531:exon6:c.726+2T>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.726+2T>C;ENST00000426216:exon6:c.726+2T>C;ENST00000307671:exon6:c.726+2T>C;ENST00000586672:exon5:c.552+2T>C)	.	.	0.942327373561258	0.556
18	76903862	T	G	18	79143862	y	y	splicing	ATP9B(NM_198531:exon6:c.726+2T>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon6:c.726+2T>G;ENST00000426216:exon6:c.726+2T>G;ENST00000307671:exon6:c.726+2T>G;ENST00000586672:exon5:c.552+2T>G)	.	.	0.999987293550401	0.914
18	76903863	T	A	18	79143863	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.88217409262632E-4	0.034
18	76903863	T	C	18	79143863	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0642720249825773	0.186
18	76903863	T	G	18	79143863	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.86690846070316E-4	0.086
18	76903864	G	A	18	79143864	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.3281290926375E-4	0.054
18	76903864	G	C	18	79143864	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00338875767499896	0.266
18	76903864	G	T	18	79143864	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.16670358919027E-4	0.03
18	76903865	A	C	18	79143865	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0411844592145926	0.146
18	76903865	A	G	18	79143865	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.81581112951018E-4	0.07
18	76903865	A	T	18	79143865	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00633397530217062	0.114
18	76903866	T	A	18	79143866	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.857464294436177	0.66
18	76903866	T	C	18	79143866	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.800225545682698	0.662
18	76903866	T	G	18	79143866	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.819015392999124	0.602
18	76903867	G	A	18	79143867	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.86835087706958E-4	0.022
18	76903867	G	C	18	79143867	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00130876662458466	0.034
18	76903867	G	T	18	79143867	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.36049155333801E-4	0.026
18	76903868	A	C	18	79143868	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.81104709051921E-5	0.0
18	76903868	A	G	18	79143868	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.17246496461593E-5	0.0
18	76903868	A	T	18	79143868	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.81104709051921E-5	0.0
18	76914492	T	A	18	79154492	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999817960714876	0.99
18	76914492	T	C	18	79154492	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0015618145164443	0.056
18	76914492	T	G	18	79154492	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999734851285432	0.974
18	76914493	G	A	18	79154493	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.97418861063202E-4	0.006
18	76914493	G	C	18	79154493	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.0291873933743E-5	0.0
18	76914493	G	T	18	79154493	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.0291873933743E-5	0.0
18	76914494	C	A	18	79154494	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.51873007404297E-4	0.022
18	76914494	C	G	18	79154494	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.85228029455377E-4	0.032
18	76914494	C	T	18	79154494	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.6583288365276E-5	0.0
18	76914495	T	A	18	79154495	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.113598539740382	0.638
18	76914495	T	C	18	79154495	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0016626402959124	0.03
18	76914495	T	G	18	79154495	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.199079613045829	0.582
18	76914496	C	A	18	79154496	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.89843423352813E-4	0.138
18	76914496	C	G	18	79154496	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.35341462155812E-4	0.088
18	76914496	C	T	18	79154496	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.01406249425324E-4	0.008
18	76914497	T	A	18	79154497	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.415658034049891	0.404
18	76914497	T	C	18	79154497	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00107962102178967	0.078
18	76914497	T	G	18	79154497	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.395374176264243	0.43
18	76914498	T	A	18	79154498	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0261624703997132	0.38
18	76914498	T	C	18	79154498	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.29706471838963E-4	0.034
18	76914498	T	G	18	79154498	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0356909784962807	0.388
18	76914499	T	A	18	79154499	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999906786248521	0.936
18	76914499	T	C	18	79154499	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0299145949889124	0.122
18	76914499	T	G	18	79154499	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.871095393142659	0.614
18	76914500	G	A	18	79154500	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.42975256714105E-5	0.0
18	76914500	G	C	18	79154500	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.80772202976407E-5	0.0
18	76914500	G	T	18	79154500	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.39451689705959E-5	0.0
18	76914501	C	A	18	79154501	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998915528048714	0.918
18	76914501	C	G	18	79154501	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999822863334481	0.96
18	76914501	C	T	18	79154501	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0673065095999629	0.072
18	76914502	A	C	18	79154502	y	y	splicing	ATP9B(NM_198531:exon7:c.727-2A>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.727-2A>C;ENST00000426216:exon7:c.727-2A>C;ENST00000307671:exon7:c.727-2A>C;ENST00000586672:exon6:c.553-2A>C)	.	.	0.999989917668626	0.926
18	76914502	A	G	18	79154502	y	y	splicing	ATP9B(NM_198531:exon7:c.727-2A>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.727-2A>G;ENST00000426216:exon7:c.727-2A>G;ENST00000307671:exon7:c.727-2A>G;ENST00000586672:exon6:c.553-2A>G)	.	.	0.999989917668626	0.926
18	76914502	A	T	18	79154502	y	y	splicing	ATP9B(NM_198531:exon7:c.727-2A>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.727-2A>T;ENST00000426216:exon7:c.727-2A>T;ENST00000307671:exon7:c.727-2A>T;ENST00000586672:exon6:c.553-2A>T)	.	.	0.999989917668626	0.928
18	76914503	G	A	18	79154503	y	y	splicing	ATP9B(NM_198531:exon7:c.727-1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.727-1G>A;ENST00000426216:exon7:c.727-1G>A;ENST00000307671:exon7:c.727-1G>A;ENST00000586672:exon6:c.553-1G>A)	.	.	0.999981760802075	0.938
18	76914503	G	C	18	79154503	y	y	splicing	ATP9B(NM_198531:exon7:c.727-1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.727-1G>C;ENST00000426216:exon7:c.727-1G>C;ENST00000307671:exon7:c.727-1G>C;ENST00000586672:exon6:c.553-1G>C)	.	.	0.999981760802075	0.938
18	76914503	G	T	18	79154503	y	y	splicing	ATP9B(NM_198531:exon7:c.727-1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.727-1G>T;ENST00000426216:exon7:c.727-1G>T;ENST00000307671:exon7:c.727-1G>T;ENST00000586672:exon6:c.553-1G>T)	.	.	0.999981760802075	0.938
18	76914504	A	C	18	79154504	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.A727C:p.N243H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A727C:p.N243H;ENSG00000166377:ENST00000426216:exon7:c.A727C:p.N243H;ENSG00000166377:ENST00000586366:exon7:c.A727C:p.N243H;ENSG00000166377:ENST00000586672:exon6:c.A553C:p.N185H;	0.345569149054907	0.522
18	76914504	A	G	18	79154504	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.A727G:p.N243D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A727G:p.N243D;ENSG00000166377:ENST00000426216:exon7:c.A727G:p.N243D;ENSG00000166377:ENST00000586366:exon7:c.A727G:p.N243D;ENSG00000166377:ENST00000586672:exon6:c.A553G:p.N185D;	0.00152152431038883	0.018
18	76914504	A	T	18	79154504	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.A727T:p.N243Y;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A727T:p.N243Y;ENSG00000166377:ENST00000426216:exon7:c.A727T:p.N243Y;ENSG00000166377:ENST00000586366:exon7:c.A727T:p.N243Y;ENSG00000166377:ENST00000586672:exon6:c.A553T:p.N185Y;	0.49934233539762	0.52
18	76914505	A	C	18	79154505	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.A728C:p.N243T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A728C:p.N243T;ENSG00000166377:ENST00000426216:exon7:c.A728C:p.N243T;ENSG00000166377:ENST00000586366:exon7:c.A728C:p.N243T;ENSG00000166377:ENST00000586672:exon6:c.A554C:p.N185T;	0.748523975087897	0.746
18	76914505	A	G	18	79154505	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.A728G:p.N243S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A728G:p.N243S;ENSG00000166377:ENST00000426216:exon7:c.A728G:p.N243S;ENSG00000166377:ENST00000586366:exon7:c.A728G:p.N243S;ENSG00000166377:ENST00000586672:exon6:c.A554G:p.N185S;	0.317315109332253	0.4
18	76914505	A	T	18	79154505	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.A728T:p.N243I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A728T:p.N243I;ENSG00000166377:ENST00000426216:exon7:c.A728T:p.N243I;ENSG00000166377:ENST00000586366:exon7:c.A728T:p.N243I;ENSG00000166377:ENST00000586672:exon6:c.A554T:p.N185I;	0.803277989161467	0.76
18	76914553	C	A	18	79154553	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.C776A:p.A259E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.C776A:p.A259E;ENSG00000166377:ENST00000426216:exon7:c.C776A:p.A259E;ENSG00000166377:ENST00000586366:exon7:c.C776A:p.A259E;	0.815985218147765	0.64
18	76914553	C	G	18	79154553	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.C776G:p.A259G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.C776G:p.A259G;ENSG00000166377:ENST00000426216:exon7:c.C776G:p.A259G;ENSG00000166377:ENST00000586366:exon7:c.C776G:p.A259G;	0.886537722300812	0.58
18	76914553	C	T	18	79154553	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.C776T:p.A259V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.C776T:p.A259V;ENSG00000166377:ENST00000426216:exon7:c.C776T:p.A259V;ENSG00000166377:ENST00000586366:exon7:c.C776T:p.A259V;	0.999558458022294	0.974
18	76914554	A	C	18	79154554	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon7:c.A777C:p.A259A;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A777C:p.A259A;ENSG00000166377:ENST00000426216:exon7:c.A777C:p.A259A;ENSG00000166377:ENST00000586366:exon7:c.A777C:p.A259A;	0.999738045030487	0.992
18	76914554	A	G	18	79154554	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon7:c.A777G:p.A259A;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A777G:p.A259A;ENSG00000166377:ENST00000426216:exon7:c.A777G:p.A259A;ENSG00000166377:ENST00000586366:exon7:c.A777G:p.A259A;	0.999613203635761	0.992
18	76914554	A	T	18	79154554	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon7:c.A777T:p.A259A;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.A777T:p.A259A;ENSG00000166377:ENST00000426216:exon7:c.A777T:p.A259A;ENSG00000166377:ENST00000586366:exon7:c.A777T:p.A259A;	0.999656239105893	0.98
18	76914555	G	A	18	79154555	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.G778A:p.G260S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.G778A:p.G260S;ENSG00000166377:ENST00000426216:exon7:c.G778A:p.G260S;ENSG00000166377:ENST00000586366:exon7:c.G778A:p.G260R;	0.999990794728237	1.0
18	76914555	G	C	18	79154555	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.G778C:p.G260R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon7:c.G778C:p.G260R;ENSG00000166377:ENST00000426216:exon7:c.G778C:p.G260R;ENSG00000166377:ENST00000586366:exon7:c.G778C:p.G260R;	0.999995925095857	1.0
18	76914555	G	T	18	79154555	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon7:c.G778T:p.G260C;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000586366:exon7:c.G778T:p.G260X;	0.999977098547814	0.996
18	76914556	G	A	18	79154556	y	y	splicing	ATP9B(NM_198531:exon7:c.778+1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.778+1G>A;ENST00000426216:exon7:c.778+1G>A;ENST00000307671:exon7:c.778+1G>A)	.	.	0.999981760802075	0.938
18	76914556	G	C	18	79154556	y	y	splicing	ATP9B(NM_198531:exon7:c.778+1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.778+1G>C;ENST00000426216:exon7:c.778+1G>C;ENST00000307671:exon7:c.778+1G>C)	.	.	0.999981760802075	0.938
18	76914556	G	T	18	79154556	y	y	splicing	ATP9B(NM_198531:exon7:c.778+1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.778+1G>T;ENST00000426216:exon7:c.778+1G>T;ENST00000307671:exon7:c.778+1G>T)	.	.	0.999981760802075	0.938
18	76914557	T	A	18	79154557	y	y	splicing	ATP9B(NM_198531:exon7:c.778+2T>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.778+2T>A;ENST00000426216:exon7:c.778+2T>A;ENST00000307671:exon7:c.778+2T>A)	.	.	0.999957916644774	0.898
18	76914557	T	C	18	79154557	y	y	splicing	ATP9B(NM_198531:exon7:c.778+2T>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.778+2T>C;ENST00000426216:exon7:c.778+2T>C;ENST00000307671:exon7:c.778+2T>C)	.	.	0.959424683053009	0.558
18	76914557	T	G	18	79154557	y	y	splicing	ATP9B(NM_198531:exon7:c.778+2T>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon7:c.778+2T>G;ENST00000426216:exon7:c.778+2T>G;ENST00000307671:exon7:c.778+2T>G)	.	.	0.999957916644774	0.902
18	76914558	A	C	18	79154558	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999963850898405	0.916
18	76914558	A	G	18	79154558	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999839543956856	0.942
18	76914558	A	T	18	79154558	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999754279780639	0.962
18	76914559	T	A	18	79154559	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.66803825627414E-4	0.03
18	76914559	T	C	18	79154559	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.62390718155803E-4	0.028
18	76914559	T	G	18	79154559	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.23004379596317E-4	0.01
18	76914560	T	A	18	79154560	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.77410488193091E-5	0.01
18	76914560	T	C	18	79154560	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.18967390820853E-5	0.002
18	76914560	T	G	18	79154560	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.05556356391737E-4	0.046
18	76914561	T	A	18	79154561	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00953528853557201	0.188
18	76914561	T	C	18	79154561	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0307312027401145	0.306
18	76914561	T	G	18	79154561	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.4149276261514E-4	0.258
18	76914562	T	A	18	79154562	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.71366398668126E-4	0.002
18	76914562	T	C	18	79154562	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.21880731754929E-4	0.0
18	76914562	T	G	18	79154562	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.02980048775978E-4	0.0
18	76914563	T	A	18	79154563	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00274916405357482	0.004
18	76914563	T	C	18	79154563	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00143179821789506	0.012
18	76914563	T	G	18	79154563	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00604524380331369	0.056
18	76936801	T	A	18	79176801	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.704770959685102	0.584
18	76936801	T	C	18	79176801	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00821157446902401	0.12
18	76936801	T	G	18	79176801	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.640134188349205	0.55
18	76936802	C	A	18	79176802	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0016675369081954	0.13
18	76936802	C	G	18	79176802	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.43496998120237E-4	0.148
18	76936802	C	T	18	79176802	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.74158136545453E-4	0.002
18	76936803	T	A	18	79176803	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0305968575333852	0.454
18	76936803	T	C	18	79176803	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00234237968376208	0.16
18	76936803	T	G	18	79176803	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0108817558633761	0.312
18	76936804	A	C	18	79176804	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.41151825618994E-6	0.008
18	76936804	A	G	18	79176804	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.33504268593851E-5	0.008
18	76936804	A	T	18	79176804	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.61650103411439E-5	0.01
18	76936805	C	A	18	79176805	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.09283219807222E-4	0.122
18	76936805	C	G	18	79176805	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999245232435306	0.922
18	76936805	C	T	18	79176805	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.78893605057815E-5	0.018
18	76936806	T	A	18	79176806	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0118164631535107	0.074
18	76936806	T	C	18	79176806	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.94077941802409E-4	0.074
18	76936806	T	G	18	79176806	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00484755702811393	0.066
18	76936807	T	A	18	79176807	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00175642915610533	0.16
18	76936807	T	C	18	79176807	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.56258460963013E-5	0.01
18	76936807	T	G	18	79176807	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00407349173419367	0.198
18	76936808	C	A	18	79176808	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.96994062770243E-4	0.066
18	76936808	C	G	18	79176808	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.55163868253657E-4	0.098
18	76936808	C	T	18	79176808	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.70641651697487E-5	0.0
18	76936809	C	A	18	79176809	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.42974842022653E-5	0.002
18	76936809	C	G	18	79176809	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.13764404888936E-5	0.0
18	76936809	C	T	18	79176809	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.06344573645111E-5	0.0
18	76936810	A	C	18	79176810	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.07219873349187E-4	0.09
18	76936810	A	G	18	79176810	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0447323370028227	0.424
18	76936810	A	T	18	79176810	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.72581147449565E-4	0.012
18	76936811	A	C	18	79176811	y	y	splicing	ATP9B(NM_198531:exon8:c.779-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.779-2A>C;ENST00000307671:exon8:c.779-2A>C)	.	.	0.999989917668626	0.94
18	76936811	A	G	18	79176811	y	y	splicing	ATP9B(NM_198531:exon8:c.779-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.779-2A>G;ENST00000307671:exon8:c.779-2A>G)	.	.	0.999989917668626	0.94
18	76936811	A	T	18	79176811	y	y	splicing	ATP9B(NM_198531:exon8:c.779-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.779-2A>T;ENST00000307671:exon8:c.779-2A>T)	.	.	0.999989917668626	0.94
18	76936812	G	A	18	79176812	y	y	splicing	ATP9B(NM_198531:exon8:c.779-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.779-1G>A;ENST00000307671:exon8:c.779-1G>A)	.	.	0.999979023971766	0.948
18	76936812	G	C	18	79176812	y	y	splicing	ATP9B(NM_198531:exon8:c.779-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.779-1G>C;ENST00000307671:exon8:c.779-1G>C)	.	.	0.999979023971766	0.948
18	76936812	G	T	18	79176812	y	y	splicing	ATP9B(NM_198531:exon8:c.779-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.779-1G>T;ENST00000307671:exon8:c.779-1G>T)	.	.	0.999979023971766	0.948
18	76936813	G	A	18	79176813	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G779A:p.G260D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G779A:p.G260D;ENSG00000166377:ENST00000426216:exon8:c.G779A:p.G260D;	0.999768585620446	0.95
18	76936813	G	C	18	79176813	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G779C:p.G260A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G779C:p.G260A;ENSG00000166377:ENST00000426216:exon8:c.G779C:p.G260A;	0.999869547175412	0.982
18	76936813	G	T	18	79176813	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G779T:p.G260V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G779T:p.G260V;ENSG00000166377:ENST00000426216:exon8:c.G779T:p.G260V;	0.999913797589549	0.99
18	76936814	T	A	18	79176814	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon8:c.T780A:p.G260G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.T780A:p.G260G;ENSG00000166377:ENST00000426216:exon8:c.T780A:p.G260G;	0.00101730298812976	0.112
18	76936814	T	C	18	79176814	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon8:c.T780C:p.G260G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.T780C:p.G260G;ENSG00000166377:ENST00000426216:exon8:c.T780C:p.G260G;	0.00123134369100669	0.112
18	76936814	T	G	18	79176814	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon8:c.T780G:p.G260G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.T780G:p.G260G;ENSG00000166377:ENST00000426216:exon8:c.T780G:p.G260G;	6.29171038365422E-4	0.078
18	76936905	G	A	18	79176905	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G871A:p.G291R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G871A:p.G291R;ENSG00000166377:ENST00000426216:exon8:c.G871A:p.G291R;	0.928420786376721	0.622
18	76936905	G	C	18	79176905	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G871C:p.G291R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G871C:p.G291R;ENSG00000166377:ENST00000426216:exon8:c.G871C:p.G291R;	0.917828918329111	0.546
18	76936905	G	T	18	79176905	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G871T:p.G291W;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G871T:p.G291W;ENSG00000166377:ENST00000426216:exon8:c.G871T:p.G291W;	0.968336550733838	0.866
18	76936906	G	A	18	79176906	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G872A:p.G291E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G872A:p.G291E;ENSG00000166377:ENST00000426216:exon8:c.G872A:p.G291E;	0.00262350982993925	0.102
18	76936906	G	C	18	79176906	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G872C:p.G291A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G872C:p.G291A;ENSG00000166377:ENST00000426216:exon8:c.G872C:p.G291A;	0.00435077932485506	0.096
18	76936906	G	T	18	79176906	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon8:c.G872T:p.G291V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G872T:p.G291V;ENSG00000166377:ENST00000426216:exon8:c.G872T:p.G291V;	0.990934548835441	0.82
18	76936907	G	A	18	79176907	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon8:c.G873A:p.G291G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G873A:p.G291G;ENSG00000166377:ENST00000426216:exon8:c.G873A:p.G291G;	0.999951095331244	0.994
18	76936907	G	C	18	79176907	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon8:c.G873C:p.G291G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G873C:p.G291G;ENSG00000166377:ENST00000426216:exon8:c.G873C:p.G291G;	0.999968417285597	1.0
18	76936907	G	T	18	79176907	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon8:c.G873T:p.G291G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon8:c.G873T:p.G291G;ENSG00000166377:ENST00000426216:exon8:c.G873T:p.G291G;	0.999841978528982	0.994
18	76936908	G	A	18	79176908	y	y	splicing	ATP9B(NM_198531:exon8:c.873+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.873+1G>A;ENST00000307671:exon8:c.873+1G>A)	.	.	0.999985532734767	0.946
18	76936908	G	C	18	79176908	y	y	splicing	ATP9B(NM_198531:exon8:c.873+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.873+1G>C;ENST00000307671:exon8:c.873+1G>C)	.	.	0.999985532734767	0.946
18	76936908	G	T	18	79176908	y	y	splicing	ATP9B(NM_198531:exon8:c.873+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.873+1G>T;ENST00000307671:exon8:c.873+1G>T)	.	.	0.999985532734767	0.946
18	76936909	T	A	18	79176909	y	y	splicing	ATP9B(NM_198531:exon8:c.873+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.873+2T>A;ENST00000307671:exon8:c.873+2T>A)	.	.	0.999989917668626	0.948
18	76936909	T	C	18	79176909	y	y	splicing	ATP9B(NM_198531:exon8:c.873+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.873+2T>C;ENST00000307671:exon8:c.873+2T>C)	.	.	0.999985870680488	0.95
18	76936909	T	G	18	79176909	y	y	splicing	ATP9B(NM_198531:exon8:c.873+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon8:c.873+2T>G;ENST00000307671:exon8:c.873+2T>G)	.	.	0.999989917668626	0.948
18	76936910	G	A	18	79176910	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.72593068724532E-4	0.004
18	76936910	G	C	18	79176910	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998717982015539	0.708
18	76936910	G	T	18	79176910	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998710412804595	0.686
18	76936911	A	C	18	79176911	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998872379504052	0.92
18	76936911	A	G	18	79176911	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999527557154032	0.96
18	76936911	A	T	18	79176911	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999549275655799	0.968
18	76936912	G	A	18	79176912	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999914474241689	1.0
18	76936912	G	C	18	79176912	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999903556605812	0.998
18	76936912	G	T	18	79176912	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999875199045488	0.988
18	76936913	C	A	18	79176913	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00724134323062826	0.17
18	76936913	C	G	18	79176913	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.13467831528797E-4	0.14
18	76936913	C	T	18	79176913	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.36000655311996E-4	0.034
18	76936914	A	C	18	79176914	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.28653539913661E-4	0.068
18	76936914	A	G	18	79176914	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.10158545765967E-4	0.09
18	76936914	A	T	18	79176914	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.7338527365483E-4	0.096
18	76936915	G	A	18	79176915	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.424277081993E-4	0.006
18	76936915	G	C	18	79176915	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.47039458636734E-4	0.0
18	76936915	G	T	18	79176915	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.78191204438995E-4	0.018
18	76953171	T	A	18	79193171	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.905970015084553	0.848
18	76953171	T	C	18	79193171	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0168194346516852	0.132
18	76953171	T	G	18	79193171	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.966549214024243	0.814
18	76953172	C	A	18	79193172	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0246633090019992	0.234
18	76953172	C	G	18	79193172	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00650425357214436	0.106
18	76953172	C	T	18	79193172	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.81634713076543E-4	0.002
18	76953173	T	A	18	79193173	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999946212559765	0.986
18	76953173	T	C	18	79193173	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00255718487518395	0.082
18	76953173	T	G	18	79193173	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.987167902525988	0.872
18	76953174	G	A	18	79193174	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.80500806993381E-5	0.0
18	76953174	G	C	18	79193174	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.79460626224071E-5	0.0
18	76953174	G	T	18	79193174	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.72500162375589E-5	0.0
18	76953175	T	A	18	79193175	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.684347928025538	0.396
18	76953175	T	C	18	79193175	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00511920073126557	0.096
18	76953175	T	G	18	79193175	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.479564014031096	0.472
18	76953176	A	C	18	79193176	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.27219349862041E-5	0.002
18	76953176	A	G	18	79193176	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.04900693216345E-6	0.0
18	76953176	A	T	18	79193176	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.20175216104126E-5	0.0
18	76953177	T	A	18	79193177	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.845263564360684	0.49
18	76953177	T	C	18	79193177	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.75205296797331E-4	0.062
18	76953177	T	G	18	79193177	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999964570879821	0.97
18	76953178	T	A	18	79193178	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.494825877330957	0.436
18	76953178	T	C	18	79193178	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0539025282800052	0.174
18	76953178	T	G	18	79193178	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.658139148134323	0.458
18	76953179	C	A	18	79193179	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.45232332236475E-5	0.0
18	76953179	C	G	18	79193179	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.21673747652601E-4	0.002
18	76953179	C	T	18	79193179	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.78516235200206E-5	0.0
18	76953180	C	A	18	79193180	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.925394890337271	0.608
18	76953180	C	G	18	79193180	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.996832318682878	0.918
18	76953180	C	T	18	79193180	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.021236270401475	0.256
18	76953181	A	C	18	79193181	y	y	splicing	ATP9B(NM_198531:exon9:c.874-2A>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.779-2A>C;ENST00000426216:exon9:c.874-2A>C;ENST00000307671:exon9:c.874-2A>C)	.	.	0.999989917668626	0.924
18	76953181	A	G	18	79193181	y	y	splicing	ATP9B(NM_198531:exon9:c.874-2A>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.779-2A>G;ENST00000426216:exon9:c.874-2A>G;ENST00000307671:exon9:c.874-2A>G)	.	.	0.999989917668626	0.924
18	76953181	A	T	18	79193181	y	y	splicing	ATP9B(NM_198531:exon9:c.874-2A>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.779-2A>T;ENST00000426216:exon9:c.874-2A>T;ENST00000307671:exon9:c.874-2A>T)	.	.	0.999989917668626	0.88
18	76953182	G	A	18	79193182	y	y	splicing	ATP9B(NM_198531:exon9:c.874-1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.779-1G>A;ENST00000426216:exon9:c.874-1G>A;ENST00000307671:exon9:c.874-1G>A)	.	.	0.999986675681007	0.936
18	76953182	G	C	18	79193182	y	y	splicing	ATP9B(NM_198531:exon9:c.874-1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.779-1G>C;ENST00000426216:exon9:c.874-1G>C;ENST00000307671:exon9:c.874-1G>C)	.	.	0.999986675681007	0.934
18	76953182	G	T	18	79193182	y	y	splicing	ATP9B(NM_198531:exon9:c.874-1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.779-1G>T;ENST00000426216:exon9:c.874-1G>T;ENST00000307671:exon9:c.874-1G>T)	.	.	0.999986675681007	0.934
18	76953183	G	A	18	79193183	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.G874A:p.D292N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.G874A:p.D292N;ENSG00000166377:ENST00000426216:exon9:c.G874A:p.D292N;ENSG00000166377:ENST00000586366:exon8:c.G779A:p.G260E;	0.998360079294742	0.954
18	76953183	G	C	18	79193183	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.G874C:p.D292H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.G874C:p.D292H;ENSG00000166377:ENST00000426216:exon9:c.G874C:p.D292H;ENSG00000166377:ENST00000586366:exon8:c.G779C:p.G260A;	0.998872191205264	0.952
18	76953183	G	T	18	79193183	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.G874T:p.D292Y;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.G874T:p.D292Y;ENSG00000166377:ENST00000426216:exon9:c.G874T:p.D292Y;ENSG00000166377:ENST00000586366:exon8:c.G779T:p.G260V;	0.999904314501573	0.982
18	76953184	A	C	18	79193184	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.A875C:p.D292A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.A875C:p.D292A;ENSG00000166377:ENST00000426216:exon9:c.A875C:p.D292A;	0.565610476263434	0.628
18	76953184	A	G	18	79193184	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.A875G:p.D292G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.A875G:p.D292G;ENSG00000166377:ENST00000426216:exon9:c.A875G:p.D292G;	0.788552359630696	0.632
18	76953184	A	T	18	79193184	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.A875T:p.D292V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.A875T:p.D292V;ENSG00000166377:ENST00000426216:exon9:c.A875T:p.D292V;	0.727421249765851	0.634
18	76953261	A	C	18	79193261	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon9:c.A952C:p.R318R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000586366:exon8:c.A857C:p.Q286P;	1.7147840660216E-4	0.002
18	76953261	A	G	18	79193261	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.A952G:p.R318G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.A952G:p.R318G;ENSG00000166377:ENST00000426216:exon9:c.A952G:p.R318G;ENSG00000166377:ENST00000586366:exon8:c.A857G:p.Q286R;	0.00346757854009942	0.056
18	76953261	A	T	18	79193261	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.A952T:p.R318W;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.A952T:p.R318W;ENSG00000166377:ENST00000426216:exon9:c.A952T:p.R318W;ENSG00000166377:ENST00000586366:exon8:c.A857T:p.Q286L;	0.0536720937008986	0.154
18	76953262	G	A	18	79193262	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.G953A:p.R318K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.G953A:p.R318K;ENSG00000166377:ENST00000426216:exon9:c.G953A:p.R318K;	0.67285358538559	0.374
18	76953262	G	C	18	79193262	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.G953C:p.R318T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.G953C:p.R318T;ENSG00000166377:ENST00000426216:exon9:c.G953C:p.R318T;ENSG00000166377:ENST00000586366:exon8:c.G858C:p.Q286H;	0.0358313603754857	0.094
18	76953262	G	T	18	79193262	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.G953T:p.R318M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.G953T:p.R318M;ENSG00000166377:ENST00000426216:exon9:c.G953T:p.R318M;ENSG00000166377:ENST00000586366:exon8:c.G858T:p.Q286H;	0.877122147761954	0.496
18	76953263	G	A	18	79193263	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon9:c.G954A:p.R318R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000586366:exon8:c.G859A:p.G287R;	0.999040966716606	0.854
18	76953263	G	C	18	79193263	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.G954C:p.R318S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon9:c.G954C:p.R318S;ENSG00000166377:ENST00000426216:exon9:c.G954C:p.R318S;ENSG00000166377:ENST00000586366:exon8:c.G859C:p.G287R;	0.998943708024673	0.884
18	76953263	G	T	18	79193263	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon9:c.G954T:p.R318S;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000586366:exon8:c.G859T:p.G287X;	0.999735698313894	0.968
18	76953264	G	A	18	79193264	y	y	splicing	ATP9B(NM_198531:exon9:c.954+1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.859+1G>A;ENST00000426216:exon9:c.954+1G>A;ENST00000307671:exon9:c.954+1G>A)	.	.	0.999986675681007	0.934
18	76953264	G	C	18	79193264	y	y	splicing	ATP9B(NM_198531:exon9:c.954+1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.859+1G>C;ENST00000426216:exon9:c.954+1G>C;ENST00000307671:exon9:c.954+1G>C)	.	.	0.999986675681007	0.934
18	76953264	G	T	18	79193264	y	y	splicing	ATP9B(NM_198531:exon9:c.954+1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.859+1G>T;ENST00000426216:exon9:c.954+1G>T;ENST00000307671:exon9:c.954+1G>T)	.	.	0.999986675681007	0.934
18	76953265	T	A	18	79193265	y	y	splicing	ATP9B(NM_198531:exon9:c.954+2T>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.859+2T>A;ENST00000426216:exon9:c.954+2T>A;ENST00000307671:exon9:c.954+2T>A)	.	.	0.999989917668626	0.928
18	76953265	T	C	18	79193265	y	y	splicing	ATP9B(NM_198531:exon9:c.954+2T>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.859+2T>C;ENST00000426216:exon9:c.954+2T>C;ENST00000307671:exon9:c.954+2T>C)	.	.	0.994485838132979	0.624
18	76953265	T	G	18	79193265	y	y	splicing	ATP9B(NM_198531:exon9:c.954+2T>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon8:c.859+2T>G;ENST00000426216:exon9:c.954+2T>G;ENST00000307671:exon9:c.954+2T>G)	.	.	0.999989917668626	0.928
18	76953266	A	C	18	79193266	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.989256924105079	0.544
18	76953266	A	G	18	79193266	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00197843204816083	0.088
18	76953266	A	T	18	79193266	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.980423769909276	0.522
18	76953267	A	C	18	79193267	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.889514369168446	0.61
18	76953267	A	G	18	79193267	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.984197700085437	0.712
18	76953267	A	T	18	79193267	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.980380086505219	0.618
18	76953268	G	A	18	79193268	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999190965027618	0.926
18	76953268	G	C	18	79193268	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999235483509193	0.858
18	76953268	G	T	18	79193268	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998603454315251	0.85
18	76953269	T	A	18	79193269	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.141242975408261	0.302
18	76953269	T	C	18	79193269	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0653076742487043	0.28
18	76953269	T	G	18	79193269	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0197798072108807	0.218
18	76953270	T	A	18	79193270	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.98561944552076E-4	0.022
18	76953270	T	C	18	79193270	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.7357792130175E-4	0.0
18	76953270	T	G	18	79193270	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.7357792130175E-4	0.0
18	76953271	A	C	18	79193271	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.18429645671592E-5	0.0
18	76953271	A	G	18	79193271	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.03471502021935E-4	0.0
18	76953271	A	T	18	79193271	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.18429645671592E-5	0.0
18	76966925	C	A	18	79206925	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.68470673530583E-5	0.02
18	76966925	C	G	18	79206925	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.91757030532589E-5	0.004
18	76966925	C	T	18	79206925	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.97018975761258E-5	0.0
18	76966926	T	A	18	79206926	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.265407156262451	0.51
18	76966926	T	C	18	79206926	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00667055134074657	0.104
18	76966926	T	G	18	79206926	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0157444913607288	0.344
18	76966927	C	A	18	79206927	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00594624771597114	0.136
18	76966927	C	G	18	79206927	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00397783295227175	0.16
18	76966927	C	T	18	79206927	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.45368909317422E-4	0.014
18	76966928	C	A	18	79206928	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.42284184581145E-4	0.06
18	76966928	C	G	18	79206928	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.32353102819432E-4	0.162
18	76966928	C	T	18	79206928	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.68739797944776E-5	0.006
18	76966929	C	A	18	79206929	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.74916711899349E-4	0.068
18	76966929	C	G	18	79206929	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.20846640427754E-4	0.016
18	76966929	C	T	18	79206929	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.11992893342484E-5	0.002
18	76966930	T	A	18	79206930	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999749291136579	0.984
18	76966930	T	C	18	79206930	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.26288232293012E-5	0.012
18	76966930	T	G	18	79206930	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0331265893216495	0.164
18	76966931	G	A	18	79206931	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.55375456867866E-5	0.0
18	76966931	G	C	18	79206931	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.07931769824889E-5	0.018
18	76966931	G	T	18	79206931	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.87441357747706E-5	0.0
18	76966932	C	A	18	79206932	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.69221883797383E-4	0.036
18	76966932	C	G	18	79206932	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.9256531188811E-4	0.008
18	76966932	C	T	18	79206932	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.23079100050796E-5	0.0
18	76966933	A	C	18	79206933	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.85113390264808E-4	0.006
18	76966933	A	G	18	79206933	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.16737748915979E-4	0.016
18	76966933	A	T	18	79206933	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00171494116853277	0.026
18	76966934	C	A	18	79206934	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.388153998593301	0.522
18	76966934	C	G	18	79206934	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999496392221121	0.914
18	76966934	C	T	18	79206934	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.25185423975229E-4	0.006
18	76966935	A	C	18	79206935	y	y	splicing	ATP9B(NM_198531:exon10:c.955-2A>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.860-2A>C;ENST00000426216:exon10:c.955-2A>C;ENST00000307671:exon10:c.955-2A>C)	.	.	0.999993519952936	0.926
18	76966935	A	G	18	79206935	y	y	splicing	ATP9B(NM_198531:exon10:c.955-2A>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.860-2A>G;ENST00000426216:exon10:c.955-2A>G;ENST00000307671:exon10:c.955-2A>G)	.	.	0.999993519952936	0.926
18	76966935	A	T	18	79206935	y	y	splicing	ATP9B(NM_198531:exon10:c.955-2A>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.860-2A>T;ENST00000426216:exon10:c.955-2A>T;ENST00000307671:exon10:c.955-2A>T)	.	.	0.999993519952936	0.928
18	76966936	G	A	18	79206936	y	y	splicing	ATP9B(NM_198531:exon10:c.955-1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.860-1G>A;ENST00000426216:exon10:c.955-1G>A;ENST00000307671:exon10:c.955-1G>A)	.	.	0.999988247793601	0.924
18	76966936	G	C	18	79206936	y	y	splicing	ATP9B(NM_198531:exon10:c.955-1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.860-1G>C;ENST00000426216:exon10:c.955-1G>C;ENST00000307671:exon10:c.955-1G>C)	.	.	0.999988247793601	0.924
18	76966936	G	T	18	79206936	y	y	splicing	ATP9B(NM_198531:exon10:c.955-1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.860-1G>T;ENST00000426216:exon10:c.955-1G>T;ENST00000307671:exon10:c.955-1G>T)	.	.	0.999988247793601	0.924
18	76966937	G	A	18	79206937	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.G955A:p.E319K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon10:c.G955A:p.E319K;ENSG00000166377:ENST00000426216:exon10:c.G955A:p.E319K;ENSG00000166377:ENST00000586366:exon9:c.G860A:p.G287E;	0.98976813492045	0.704
18	76966937	G	C	18	79206937	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.G955C:p.E319Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon10:c.G955C:p.E319Q;ENSG00000166377:ENST00000426216:exon10:c.G955C:p.E319Q;ENSG00000166377:ENST00000586366:exon9:c.G860C:p.G287A;	0.957688207720602	0.818
18	76966937	G	T	18	79206937	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon10:c.G955T:p.E319X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon10:c.G955T:p.E319X;ENSG00000166377:ENST00000426216:exon10:c.G955T:p.E319X;	0.999446483789126	0.952
18	76966938	A	C	18	79206938	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.A956C:p.E319A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon10:c.A956C:p.E319A;ENSG00000166377:ENST00000426216:exon10:c.A956C:p.E319A;	0.010821846113644	0.05
18	76966938	A	G	18	79206938	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.A956G:p.E319G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon10:c.A956G:p.E319G;ENSG00000166377:ENST00000426216:exon10:c.A956G:p.E319G;	0.0634491193214309	0.3
18	76966938	A	T	18	79206938	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.A956T:p.E319V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon10:c.A956T:p.E319V;ENSG00000166377:ENST00000426216:exon10:c.A956T:p.E319V;	0.0269598424432941	0.364
18	76967010	C	A	18	79207010	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon10:c.C1028A:p.S343X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon10:c.C1028A:p.S343X;ENSG00000166377:ENST00000426216:exon10:c.C1028A:p.S343X;	0.823000513551862	0.664
18	76967010	C	G	18	79207010	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon10:c.C1028G:p.S343X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon10:c.C1028G:p.S343X;ENSG00000166377:ENST00000426216:exon10:c.C1028G:p.S343X;	0.747672186025169	0.494
18	76967010	C	T	18	79207010	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.C1028T:p.S343L;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000587878:exon1:c.C34T:p.Q12X;	0.994983716033746	0.648
18	76967011	A	C	18	79207011	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon10:c.A1029C:p.S343S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000587878:exon1:c.A35C:p.Q12P;	0.0043430360690369	0.308
18	76967011	A	G	18	79207011	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon10:c.A1029G:p.S343S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000587878:exon1:c.A35G:p.Q12R;	0.0102428888918437	0.254
18	76967011	A	T	18	79207011	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon10:c.A1029T:p.S343S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000587878:exon1:c.A35T:p.Q12L;	0.00530892495457407	0.286
18	76967012	G	A	18	79207012	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.G1030A:p.G344S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon10:c.G1030A:p.G344S;ENSG00000166377:ENST00000426216:exon10:c.G1030A:p.G344S;	0.999856504367611	0.96
18	76967012	G	C	18	79207012	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.G1030C:p.G344R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon10:c.G1030C:p.G344R;ENSG00000166377:ENST00000426216:exon10:c.G1030C:p.G344R;ENSG00000166377:ENST00000587878:exon1:c.G36C:p.Q12H;	0.999940194205754	0.964
18	76967012	G	T	18	79207012	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon10:c.G1030T:p.G344C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon10:c.G1030T:p.G344C;ENSG00000166377:ENST00000426216:exon10:c.G1030T:p.G344C;ENSG00000166377:ENST00000587878:exon1:c.G36T:p.Q12H;	0.998945739931796	0.972
18	76967013	G	A	18	79207013	y	y	splicing	ATP9B(NM_198531:exon10:c.1030+1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.935+1G>A;ENST00000426216:exon10:c.1030+1G>A;ENST00000307671:exon10:c.1030+1G>A;ENST00000587878:exon1:c.36+1G>A)	.	.	0.99994568797423	0.934
18	76967013	G	C	18	79207013	y	y	splicing	ATP9B(NM_198531:exon10:c.1030+1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.935+1G>C;ENST00000426216:exon10:c.1030+1G>C;ENST00000307671:exon10:c.1030+1G>C;ENST00000587878:exon1:c.36+1G>C)	.	.	0.99994568797423	0.94
18	76967013	G	T	18	79207013	y	y	splicing	ATP9B(NM_198531:exon10:c.1030+1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.935+1G>T;ENST00000426216:exon10:c.1030+1G>T;ENST00000307671:exon10:c.1030+1G>T;ENST00000587878:exon1:c.36+1G>T)	.	.	0.99994568797423	0.934
18	76967014	T	A	18	79207014	y	y	splicing	ATP9B(NM_198531:exon10:c.1030+2T>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.935+2T>A;ENST00000426216:exon10:c.1030+2T>A;ENST00000307671:exon10:c.1030+2T>A;ENST00000587878:exon1:c.36+2T>A)	.	.	0.999978278263889	0.938
18	76967014	T	C	18	79207014	y	y	splicing	ATP9B(NM_198531:exon10:c.1030+2T>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.935+2T>C;ENST00000426216:exon10:c.1030+2T>C;ENST00000307671:exon10:c.1030+2T>C;ENST00000587878:exon1:c.36+2T>C)	.	.	0.966090320230724	0.618
18	76967014	T	G	18	79207014	y	y	splicing	ATP9B(NM_198531:exon10:c.1030+2T>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon9:c.935+2T>G;ENST00000426216:exon10:c.1030+2T>G;ENST00000307671:exon10:c.1030+2T>G;ENST00000587878:exon1:c.36+2T>G)	.	.	0.999978278263889	0.944
18	76967015	A	C	18	79207015	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.853590717647435	0.506
18	76967015	A	G	18	79207015	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.00731711551556E-4	0.038
18	76967015	A	T	18	79207015	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.725294959129311	0.454
18	76967016	A	C	18	79207016	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.252537863847033	0.362
18	76967016	A	G	18	79207016	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.807306027857534	0.482
18	76967016	A	T	18	79207016	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.400193363465649	0.328
18	76967017	G	A	18	79207017	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.911030152511491	0.664
18	76967017	G	C	18	79207017	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.735947108726806	0.64
18	76967017	G	T	18	79207017	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.759920715130172	0.654
18	76967018	G	A	18	79207018	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.81378715521166E-5	0.002
18	76967018	G	C	18	79207018	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.49447890522081E-5	0.016
18	76967018	G	T	18	79207018	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.3842066082654E-5	0.002
18	76967019	A	C	18	79207019	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.33444558426018E-4	0.014
18	76967019	A	G	18	79207019	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.33444558426018E-4	0.012
18	76967019	A	T	18	79207019	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00122743260020061	0.026
18	76967020	A	C	18	79207020	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.84631977257237E-5	0.004
18	76967020	A	G	18	79207020	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.84631977257237E-5	0.004
18	76967020	A	T	18	79207020	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.84631977257237E-5	0.004
18	76973950	A	C	18	79213950	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.09652065076952E-5	0.012
18	76973950	A	G	18	79213950	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.5750826474419E-5	0.024
18	76973950	A	T	18	79213950	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.87918371151799E-5	0.014
18	76973951	T	A	18	79213951	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999870206715287	0.944
18	76973951	T	C	18	79213951	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.955930991241511	0.53
18	76973951	T	G	18	79213951	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999836394816681	0.932
18	76973952	G	A	18	79213952	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00419530065292651	0.12
18	76973952	G	C	18	79213952	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00421380984962776	0.044
18	76973952	G	T	18	79213952	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0012891037826092	0.022
18	76973953	T	A	18	79213953	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999636132875278	0.84
18	76973953	T	C	18	79213953	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.405948232076364	0.342
18	76973953	T	G	18	79213953	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998662502061244	0.89
18	76973954	T	A	18	79213954	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00287759628156267	0.06
18	76973954	T	C	18	79213954	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62913043548366E-5	0.002
18	76973954	T	G	18	79213954	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00146341992666383	0.06
18	76973955	T	A	18	79213955	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.938544941746458	0.73
18	76973955	T	C	18	79213955	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00339158381756309	0.076
18	76973955	T	G	18	79213955	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.916528927430584	0.598
18	76973956	T	A	18	79213956	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.153849181418223	0.556
18	76973956	T	C	18	79213956	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.98442152274239E-4	0.01
18	76973956	T	G	18	79213956	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.216698546211951	0.574
18	76973957	T	A	18	79213957	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.99784411144777	0.834
18	76973957	T	C	18	79213957	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00102560326341551	0.034
18	76973957	T	G	18	79213957	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.555961323033247	0.45
18	76973958	G	A	18	79213958	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.93983291830271E-5	0.002
18	76973958	G	C	18	79213958	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.40511424906084E-4	0.0
18	76973958	G	T	18	79213958	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.1139628091584E-4	0.004
18	76973959	C	A	18	79213959	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997668818144299	0.708
18	76973959	C	G	18	79213959	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999922650806568	0.934
18	76973959	C	T	18	79213959	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.154844410882645	0.142
18	76973960	A	C	18	79213960	y	y	splicing	ATP9B(NM_198531:exon11:c.1031-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1031-2A>C;ENST00000307671:exon11:c.1031-2A>C)	.	.	0.999988247793601	0.932
18	76973960	A	G	18	79213960	y	y	splicing	ATP9B(NM_198531:exon11:c.1031-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1031-2A>G;ENST00000307671:exon11:c.1031-2A>G)	.	.	0.999988247793601	0.932
18	76973960	A	T	18	79213960	y	y	splicing	ATP9B(NM_198531:exon11:c.1031-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1031-2A>T;ENST00000307671:exon11:c.1031-2A>T)	.	.	0.999988247793601	0.932
18	76973961	G	A	18	79213961	y	y	splicing	ATP9B(NM_198531:exon11:c.1031-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1031-1G>A;ENST00000307671:exon11:c.1031-1G>A)	.	.	0.999990361384395	0.938
18	76973961	G	C	18	79213961	y	y	splicing	ATP9B(NM_198531:exon11:c.1031-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1031-1G>C;ENST00000307671:exon11:c.1031-1G>C)	.	.	0.999990361384395	0.938
18	76973961	G	T	18	79213961	y	y	splicing	ATP9B(NM_198531:exon11:c.1031-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1031-1G>T;ENST00000307671:exon11:c.1031-1G>T)	.	.	0.999990361384395	0.938
18	76973962	G	A	18	79213962	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.G1031A:p.G344D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.G1031A:p.G344D;ENSG00000166377:ENST00000426216:exon11:c.G1031A:p.G344D;	0.999117017322887	0.85
18	76973962	G	C	18	79213962	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.G1031C:p.G344A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.G1031C:p.G344A;ENSG00000166377:ENST00000426216:exon11:c.G1031C:p.G344A;	0.999872818499401	0.988
18	76973962	G	T	18	79213962	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.G1031T:p.G344V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.G1031T:p.G344V;ENSG00000166377:ENST00000426216:exon11:c.G1031T:p.G344V;	0.99989353169558	0.992
18	76973963	T	A	18	79213963	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon11:c.T1032A:p.G344G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.T1032A:p.G344G;ENSG00000166377:ENST00000426216:exon11:c.T1032A:p.G344G;	0.648158289293431	0.332
18	76973963	T	C	18	79213963	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon11:c.T1032C:p.G344G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.T1032C:p.G344G;ENSG00000166377:ENST00000426216:exon11:c.T1032C:p.G344G;	0.0746339642270259	0.198
18	76973963	T	G	18	79213963	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon11:c.T1032G:p.G344G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.T1032G:p.G344G;ENSG00000166377:ENST00000426216:exon11:c.T1032G:p.G344G;	0.0759525030219764	0.248
18	76974036	A	C	18	79214036	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.A1105C:p.K369Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.A1105C:p.K369Q;ENSG00000166377:ENST00000426216:exon11:c.A1105C:p.K369Q;	0.827037196448626	0.658
18	76974036	A	G	18	79214036	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.A1105G:p.K369E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.A1105G:p.K369E;ENSG00000166377:ENST00000426216:exon11:c.A1105G:p.K369E;	0.528523755258084	0.504
18	76974036	A	T	18	79214036	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon11:c.A1105T:p.K369X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon11:c.A1105T:p.K369X;ENSG00000166377:ENST00000426216:exon11:c.A1105T:p.K369X;	0.995249034025058	0.8
18	76974037	A	C	18	79214037	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.A1106C:p.K369T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.A1106C:p.K369T;ENSG00000166377:ENST00000426216:exon11:c.A1106C:p.K369T;	0.999430169381331	0.936
18	76974037	A	G	18	79214037	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.A1106G:p.K369R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.A1106G:p.K369R;ENSG00000166377:ENST00000426216:exon11:c.A1106G:p.K369R;	0.999962894113512	1.0
18	76974037	A	T	18	79214037	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.A1106T:p.K369M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.A1106T:p.K369M;ENSG00000166377:ENST00000426216:exon11:c.A1106T:p.K369M;	0.999904218141812	0.998
18	76974038	G	A	18	79214038	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon11:c.G1107A:p.K369K;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.G1107A:p.K369K;ENSG00000166377:ENST00000426216:exon11:c.G1107A:p.K369K;	0.999927277108635	0.978
18	76974038	G	C	18	79214038	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.G1107C:p.K369N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.G1107C:p.K369N;ENSG00000166377:ENST00000426216:exon11:c.G1107C:p.K369N;	0.999996841290077	1.0
18	76974038	G	T	18	79214038	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon11:c.G1107T:p.K369N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon11:c.G1107T:p.K369N;ENSG00000166377:ENST00000426216:exon11:c.G1107T:p.K369N;	0.999985932008759	1.0
18	76974039	G	A	18	79214039	y	y	splicing	ATP9B(NM_198531:exon11:c.1107+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1107+1G>A;ENST00000307671:exon11:c.1107+1G>A)	.	.	0.999989072007339	0.934
18	76974039	G	C	18	79214039	y	y	splicing	ATP9B(NM_198531:exon11:c.1107+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1107+1G>C;ENST00000307671:exon11:c.1107+1G>C)	.	.	0.999989072007339	0.934
18	76974039	G	T	18	79214039	y	y	splicing	ATP9B(NM_198531:exon11:c.1107+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1107+1G>T;ENST00000307671:exon11:c.1107+1G>T)	.	.	0.999989072007339	0.934
18	76974040	T	A	18	79214040	y	y	splicing	ATP9B(NM_198531:exon11:c.1107+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1107+2T>A;ENST00000307671:exon11:c.1107+2T>A)	.	.	0.999988247793601	0.93
18	76974040	T	C	18	79214040	y	y	splicing	ATP9B(NM_198531:exon11:c.1107+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1107+2T>C;ENST00000307671:exon11:c.1107+2T>C)	.	.	0.997082385503644	0.712
18	76974040	T	G	18	79214040	y	y	splicing	ATP9B(NM_198531:exon11:c.1107+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon11:c.1107+2T>G;ENST00000307671:exon11:c.1107+2T>G)	.	.	0.999988247793601	0.93
18	76974041	A	C	18	79214041	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998820217823052	0.97
18	76974041	A	G	18	79214041	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998454261480185	0.922
18	76974041	A	T	18	79214041	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999485812490726	0.962
18	76974042	G	A	18	79214042	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00682733471156573	0.102
18	76974042	G	C	18	79214042	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0809475378395962	0.256
18	76974042	G	T	18	79214042	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0292878563227908	0.198
18	76974043	G	A	18	79214043	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998346163565678	0.674
18	76974043	G	C	18	79214043	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997276387849222	0.74
18	76974043	G	T	18	79214043	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999969848224193	0.858
18	76974044	C	A	18	79214044	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.44938586410971E-4	0.05
18	76974044	C	G	18	79214044	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.36515151719096E-4	0.05
18	76974044	C	T	18	79214044	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.99416932415197E-5	0.006
18	76974045	T	A	18	79214045	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.35281833407758E-4	0.0
18	76974045	T	C	18	79214045	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.96705030053674E-4	0.0
18	76974045	T	G	18	79214045	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.61989690279115E-4	0.0
18	76974046	A	C	18	79214046	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.06437866304308E-4	0.002
18	76974046	A	G	18	79214046	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.66300665747548E-4	0.0
18	76974046	A	T	18	79214046	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.24183419195015E-4	0.0
18	77013369	T	A	18	79253369	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.14612539548152E-4	0.08
18	77013369	T	C	18	79253369	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.8397289630487E-4	0.01
18	77013369	T	G	18	79253369	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.50124573762453E-4	0.064
18	77013370	T	A	18	79253370	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00236300459370705	0.18
18	77013370	T	C	18	79253370	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.18627970887694E-4	0.066
18	77013370	T	G	18	79253370	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00132953090232908	0.148
18	77013371	T	A	18	79253371	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0160690489188426	0.296
18	77013371	T	C	18	79253371	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0035966219035091	0.058
18	77013371	T	G	18	79253371	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00632472769825001	0.224
18	77013372	T	A	18	79253372	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.38131428334479E-4	0.032
18	77013372	T	C	18	79253372	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.81854767663951E-5	0.004
18	77013372	T	G	18	79253372	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.02087273618245E-4	0.068
18	77013373	T	A	18	79253373	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.27662263255557E-4	0.104
18	77013373	T	C	18	79253373	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.03328815539669E-4	0.042
18	77013373	T	G	18	79253373	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.27662263255557E-4	0.088
18	77013374	C	A	18	79253374	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.49298911590595E-5	0.02
18	77013374	C	G	18	79253374	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.74308160462046E-5	0.006
18	77013374	C	T	18	79253374	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.17058502146592E-5	0.0
18	77013375	T	A	18	79253375	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00171045216303024	0.072
18	77013375	T	C	18	79253375	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.34104139322896E-4	0.0
18	77013375	T	G	18	79253375	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00412554500064709	0.058
18	77013376	T	A	18	79253376	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.41224532346987E-4	0.11
18	77013376	T	C	18	79253376	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.85541745932018E-5	0.014
18	77013376	T	G	18	79253376	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.01649931095189E-4	0.126
18	77013377	T	A	18	79253377	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.00044169594179E-4	0.0
18	77013377	T	C	18	79253377	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.41183038599119E-5	0.0
18	77013377	T	G	18	79253377	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.80953075399185E-5	0.014
18	77013378	C	A	18	79253378	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.156620828766865	0.462
18	77013378	C	G	18	79253378	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.995442295755464	0.784
18	77013378	C	T	18	79253378	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00155570309431936	0.112
18	77013379	A	C	18	79253379	y	y	splicing	ATP9B(NM_198531:exon12:c.1108-2A>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon10:c.936-2A>C;ENST00000426216:exon12:c.1108-2A>C;ENST00000307671:exon12:c.1108-2A>C;ENST00000587878:exon2:c.37-2A>C)	.	.	0.999982603165682	0.918
18	77013379	A	G	18	79253379	y	y	splicing	ATP9B(NM_198531:exon12:c.1108-2A>G)	.	.	splicing	ENSG00000166377(ENST00000586366:exon10:c.936-2A>G;ENST00000426216:exon12:c.1108-2A>G;ENST00000307671:exon12:c.1108-2A>G;ENST00000587878:exon2:c.37-2A>G)	.	.	0.999982603165682	0.918
18	77013379	A	T	18	79253379	y	y	splicing	ATP9B(NM_198531:exon12:c.1108-2A>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon10:c.936-2A>T;ENST00000426216:exon12:c.1108-2A>T;ENST00000307671:exon12:c.1108-2A>T;ENST00000587878:exon2:c.37-2A>T)	.	.	0.999986607513753	0.916
18	77013380	G	A	18	79253380	y	y	splicing	ATP9B(NM_198531:exon12:c.1108-1G>A)	.	.	splicing	ENSG00000166377(ENST00000586366:exon10:c.936-1G>A;ENST00000426216:exon12:c.1108-1G>A;ENST00000307671:exon12:c.1108-1G>A;ENST00000587878:exon2:c.37-1G>A)	.	.	0.999987124402133	0.928
18	77013380	G	C	18	79253380	y	y	splicing	ATP9B(NM_198531:exon12:c.1108-1G>C)	.	.	splicing	ENSG00000166377(ENST00000586366:exon10:c.936-1G>C;ENST00000426216:exon12:c.1108-1G>C;ENST00000307671:exon12:c.1108-1G>C;ENST00000587878:exon2:c.37-1G>C)	.	.	0.999987124402133	0.936
18	77013380	G	T	18	79253380	y	y	splicing	ATP9B(NM_198531:exon12:c.1108-1G>T)	.	.	splicing	ENSG00000166377(ENST00000586366:exon10:c.936-1G>T;ENST00000426216:exon12:c.1108-1G>T;ENST00000307671:exon12:c.1108-1G>T;ENST00000587878:exon2:c.37-1G>T)	.	.	0.999987124402133	0.936
18	77013381	G	A	18	79253381	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.G1108A:p.V370I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.G1108A:p.V370I;ENSG00000166377:ENST00000426216:exon12:c.G1108A:p.V370I;ENSG00000166377:ENST00000587878:exon2:c.G37A:p.V13I;	0.0755260805904921	0.308
18	77013381	G	C	18	79253381	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.G1108C:p.V370L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.G1108C:p.V370L;ENSG00000166377:ENST00000426216:exon12:c.G1108C:p.V370L;ENSG00000166377:ENST00000587878:exon2:c.G37C:p.V13L;	0.825196726260343	0.68
18	77013381	G	T	18	79253381	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.G1108T:p.V370F;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.G1108T:p.V370F;ENSG00000166377:ENST00000426216:exon12:c.G1108T:p.V370F;ENSG00000166377:ENST00000587878:exon2:c.G37T:p.V13F;	0.74187154906741	0.668
18	77013382	T	A	18	79253382	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.T1109A:p.V370D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.T1109A:p.V370D;ENSG00000166377:ENST00000426216:exon12:c.T1109A:p.V370D;ENSG00000166377:ENST00000587878:exon2:c.T38A:p.V13D;	0.00374688822961116	0.058
18	77013382	T	C	18	79253382	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.T1109C:p.V370A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.T1109C:p.V370A;ENSG00000166377:ENST00000426216:exon12:c.T1109C:p.V370A;ENSG00000166377:ENST00000587878:exon2:c.T38C:p.V13A;	0.00722578170816614	0.08
18	77013382	T	G	18	79253382	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.T1109G:p.V370G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.T1109G:p.V370G;ENSG00000166377:ENST00000426216:exon12:c.T1109G:p.V370G;ENSG00000166377:ENST00000587878:exon2:c.T38G:p.V13G;	0.00318282002613562	0.094
18	77013539	A	C	18	79253539	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon12:c.A1266C:p.I422I;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.A1266C:p.I422I;ENSG00000166377:ENST00000426216:exon12:c.A1266C:p.I422I;	1.40130962965424E-4	0.002
18	77013539	A	G	18	79253539	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.A1266G:p.I422M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.A1266G:p.I422M;ENSG00000166377:ENST00000426216:exon12:c.A1266G:p.I422M;	1.05536206566994E-5	0.034
18	77013539	A	T	18	79253539	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon12:c.A1266T:p.I422I;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.A1266T:p.I422I;ENSG00000166377:ENST00000426216:exon12:c.A1266T:p.I422I;	5.19445647776492E-4	0.144
18	77013540	A	C	18	79253540	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.A1267C:p.S423R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.A1267C:p.S423R;ENSG00000166377:ENST00000426216:exon12:c.A1267C:p.S423R;	0.990567479551335	0.66
18	77013540	A	G	18	79253540	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.A1267G:p.S423G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.A1267G:p.S423G;ENSG00000166377:ENST00000426216:exon12:c.A1267G:p.S423G;	0.990603779278439	0.716
18	77013540	A	T	18	79253540	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.A1267T:p.S423C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.A1267T:p.S423C;ENSG00000166377:ENST00000426216:exon12:c.A1267T:p.S423C;	0.986457469967986	0.572
18	77013541	G	A	18	79253541	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.G1268A:p.S423N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.G1268A:p.S423N;ENSG00000166377:ENST00000426216:exon12:c.G1268A:p.S423N;	0.999770353394432	0.872
18	77013541	G	C	18	79253541	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.G1268C:p.S423T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.G1268C:p.S423T;ENSG00000166377:ENST00000426216:exon12:c.G1268C:p.S423T;	0.999611918666435	0.916
18	77013541	G	T	18	79253541	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon12:c.G1268T:p.S423I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon12:c.G1268T:p.S423I;ENSG00000166377:ENST00000426216:exon12:c.G1268T:p.S423I;	0.999614039585173	0.836
18	77013542	G	A	18	79253542	y	y	splicing	ATP9B(NM_198531:exon12:c.1268+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon12:c.1268+1G>A;ENST00000307671:exon12:c.1268+1G>A;ENST00000587878:exon2:c.197+1G>A)	.	.	0.999990361384395	0.938
18	77013542	G	C	18	79253542	y	y	splicing	ATP9B(NM_198531:exon12:c.1268+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon12:c.1268+1G>C;ENST00000307671:exon12:c.1268+1G>C;ENST00000587878:exon2:c.197+1G>C)	.	.	0.999990361384395	0.938
18	77013542	G	T	18	79253542	y	y	splicing	ATP9B(NM_198531:exon12:c.1268+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon12:c.1268+1G>T;ENST00000307671:exon12:c.1268+1G>T;ENST00000587878:exon2:c.197+1G>T)	.	.	0.999990361384395	0.938
18	77013543	T	A	18	79253543	y	y	splicing	ATP9B(NM_198531:exon12:c.1268+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon12:c.1268+2T>A;ENST00000307671:exon12:c.1268+2T>A;ENST00000587878:exon2:c.197+2T>A)	.	.	0.999988247793601	0.93
18	77013543	T	C	18	79253543	y	y	splicing	ATP9B(NM_198531:exon12:c.1268+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon12:c.1268+2T>C;ENST00000307671:exon12:c.1268+2T>C;ENST00000587878:exon2:c.197+2T>C)	.	.	0.994877988051647	0.716
18	77013543	T	G	18	79253543	y	y	splicing	ATP9B(NM_198531:exon12:c.1268+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon12:c.1268+2T>G;ENST00000307671:exon12:c.1268+2T>G;ENST00000587878:exon2:c.197+2T>G)	.	.	0.999988247793601	0.93
18	77013544	A	C	18	79253544	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.437944713100886	0.444
18	77013544	A	G	18	79253544	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	7.59833704640834E-4	0.054
18	77013544	A	T	18	79253544	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.135070247959749	0.384
18	77013545	A	C	18	79253545	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.00821633168716662	0.272
18	77013545	A	G	18	79253545	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.0127502939089791	0.294
18	77013545	A	T	18	79253545	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.00834184515825813	0.208
18	77013546	G	A	18	79253546	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.945722036967958	0.564
18	77013546	G	C	18	79253546	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.947086910477764	0.586
18	77013546	G	T	18	79253546	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.976568008698162	0.59
18	77013547	T	A	18	79253547	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.0265175169543079	0.3
18	77013547	T	C	18	79253547	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.0347392250546761	0.25
18	77013547	T	G	18	79253547	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.00869528146058033	0.19
18	77013548	T	A	18	79253548	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	6.5908222467397E-5	0.002
18	77013548	T	C	18	79253548	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.52984868830034E-5	0.0
18	77013548	T	G	18	79253548	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.52984868830034E-5	0.0
18	77013549	T	A	18	79253549	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.53477837838108E-4	0.002
18	77013549	T	C	18	79253549	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.29052254582776E-4	0.0
18	77013549	T	G	18	79253549	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.29052254582776E-4	0.0
18	77037042	T	A	18	79277042	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.659184661468217	0.604
18	77037042	T	C	18	79277042	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00180921463933704	0.138
18	77037042	T	G	18	79277042	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.138596595097899	0.504
18	77037043	T	A	18	79277043	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.991036967431186	0.91
18	77037043	T	C	18	79277043	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.31917384850207	0.494
18	77037043	T	G	18	79277043	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.98253759000526	0.844
18	77037044	T	A	18	79277044	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.712252206757648	0.63
18	77037044	T	C	18	79277044	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00196674663940451	0.128
18	77037044	T	G	18	79277044	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.522590210109506	0.582
18	77037045	A	C	18	79277045	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.324086945678E-4	0.062
18	77037045	A	G	18	79277045	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.39079650408523E-4	0.084
18	77037045	A	T	18	79277045	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.00461721514251E-5	0.042
18	77037046	T	A	18	79277046	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00109713163670625	0.114
18	77037046	T	C	18	79277046	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.63124702368758E-5	0.0
18	77037046	T	G	18	79277046	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999836539723474	0.968
18	77037047	T	A	18	79277047	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00660989007402664	0.206
18	77037047	T	C	18	79277047	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.46448328622303E-5	0.038
18	77037047	T	G	18	79277047	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0135162784476522	0.236
18	77037048	T	A	18	79277048	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999929998823182	0.968
18	77037048	T	C	18	79277048	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.30732475325777E-4	0.084
18	77037048	T	G	18	79277048	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0475784538596942	0.498
18	77037049	G	A	18	79277049	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999585070710952	0.896
18	77037049	G	C	18	79277049	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00141638462621415	0.042
18	77037049	G	T	18	79277049	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00141638462621415	0.034
18	77037050	G	A	18	79277050	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0120911347209226	0.076
18	77037050	G	C	18	79277050	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00600263067640726	0.118
18	77037050	G	T	18	79277050	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.011411100130425	0.068
18	77037051	C	A	18	79277051	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998322084997504	0.896
18	77037051	C	G	18	79277051	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999909337866017	0.808
18	77037051	C	T	18	79277051	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.231449255907512	0.4
18	77037052	A	C	18	79277052	y	y	splicing	ATP9B(NM_198531:exon13:c.1269-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1269-2A>C;ENST00000307671:exon13:c.1269-2A>C;ENST00000587878:exon3:c.198-2A>C)	.	.	0.999986741007567	0.946
18	77037052	A	G	18	79277052	y	y	splicing	ATP9B(NM_198531:exon13:c.1269-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1269-2A>G;ENST00000307671:exon13:c.1269-2A>G;ENST00000587878:exon3:c.198-2A>G)	.	.	0.999986741007567	0.946
18	77037052	A	T	18	79277052	y	y	splicing	ATP9B(NM_198531:exon13:c.1269-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1269-2A>T;ENST00000307671:exon13:c.1269-2A>T;ENST00000587878:exon3:c.198-2A>T)	.	.	0.999986741007567	0.946
18	77037053	G	A	18	79277053	y	y	splicing	ATP9B(NM_198531:exon13:c.1269-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1269-1G>A;ENST00000307671:exon13:c.1269-1G>A;ENST00000587878:exon3:c.198-1G>A)	.	.	0.999983677848485	0.944
18	77037053	G	C	18	79277053	y	y	splicing	ATP9B(NM_198531:exon13:c.1269-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1269-1G>C;ENST00000307671:exon13:c.1269-1G>C;ENST00000587878:exon3:c.198-1G>C)	.	.	0.999983677848485	0.944
18	77037053	G	T	18	79277053	y	y	splicing	ATP9B(NM_198531:exon13:c.1269-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1269-1G>T;ENST00000307671:exon13:c.1269-1G>T;ENST00000587878:exon3:c.198-1G>T)	.	.	0.999983677848485	0.944
18	77037054	T	A	18	79277054	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.T1269A:p.S423R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.T1269A:p.S423R;ENSG00000166377:ENST00000426216:exon13:c.T1269A:p.S423R;	0.00347088274129909	0.386
18	77037054	T	C	18	79277054	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon13:c.T1269C:p.S423S;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.T1269C:p.S423S;ENSG00000166377:ENST00000426216:exon13:c.T1269C:p.S423S;	9.95816462574216E-5	0.08
18	77037054	T	G	18	79277054	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.T1269G:p.S423R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.T1269G:p.S423R;ENSG00000166377:ENST00000426216:exon13:c.T1269G:p.S423R;	0.00984619143373172	0.55
18	77037055	T	A	18	79277055	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.T1270A:p.L424M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.T1270A:p.L424M;ENSG00000166377:ENST00000426216:exon13:c.T1270A:p.L424M;	5.10445777191076E-4	0.296
18	77037055	T	C	18	79277055	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon13:c.T1270C:p.L424L;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.T1270C:p.L424L;ENSG00000166377:ENST00000426216:exon13:c.T1270C:p.L424L;	3.38415678839503E-4	0.128
18	77037055	T	G	18	79277055	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.T1270G:p.L424V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.T1270G:p.L424V;ENSG00000166377:ENST00000426216:exon13:c.T1270G:p.L424V;	1.50140447852136E-4	0.148
18	77037194	C	A	18	79277194	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.C1409A:p.T470K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.C1409A:p.T470K;ENSG00000166377:ENST00000426216:exon13:c.C1409A:p.T470K;	0.941856436459436	0.778
18	77037194	C	G	18	79277194	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.C1409G:p.T470R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.C1409G:p.T470R;ENSG00000166377:ENST00000426216:exon13:c.C1409G:p.T470R;	0.950841708734619	0.718
18	77037194	C	T	18	79277194	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.C1409T:p.T470I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.C1409T:p.T470I;ENSG00000166377:ENST00000426216:exon13:c.C1409T:p.T470I;	0.999891265967818	0.978
18	77037195	A	C	18	79277195	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon13:c.A1410C:p.T470T;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.A1410C:p.T470T;ENSG00000166377:ENST00000426216:exon13:c.A1410C:p.T470T;	0.998871265538898	0.972
18	77037195	A	G	18	79277195	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon13:c.A1410G:p.T470T;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.A1410G:p.T470T;ENSG00000166377:ENST00000426216:exon13:c.A1410G:p.T470T;	0.999058725616484	0.966
18	77037195	A	T	18	79277195	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon13:c.A1410T:p.T470T;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.A1410T:p.T470T;ENSG00000166377:ENST00000426216:exon13:c.A1410T:p.T470T;	0.997950815581425	0.964
18	77037196	G	A	18	79277196	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.G1411A:p.G471R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.G1411A:p.G471R;ENSG00000166377:ENST00000426216:exon13:c.G1411A:p.G471R;	0.999992235208938	1.0
18	77037196	G	C	18	79277196	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon13:c.G1411C:p.G471R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon13:c.G1411C:p.G471R;ENSG00000166377:ENST00000426216:exon13:c.G1411C:p.G471R;	0.999996767810372	0.998
18	77037196	G	T	18	79277196	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon13:c.G1411T:p.G471X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon13:c.G1411T:p.G471X;ENSG00000166377:ENST00000426216:exon13:c.G1411T:p.G471X;	0.999992895158708	0.892
18	77037197	G	A	18	79277197	y	y	splicing	ATP9B(NM_198531:exon13:c.1411+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1411+1G>A;ENST00000307671:exon13:c.1411+1G>A)	.	.	0.999989263107695	0.934
18	77037197	G	C	18	79277197	y	y	splicing	ATP9B(NM_198531:exon13:c.1411+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1411+1G>C;ENST00000307671:exon13:c.1411+1G>C)	.	.	0.999989263107695	0.934
18	77037197	G	T	18	79277197	y	y	splicing	ATP9B(NM_198531:exon13:c.1411+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1411+1G>T;ENST00000307671:exon13:c.1411+1G>T)	.	.	0.999989263107695	0.934
18	77037198	T	A	18	79277198	y	y	splicing	ATP9B(NM_198531:exon13:c.1411+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1411+2T>A;ENST00000307671:exon13:c.1411+2T>A)	.	.	0.999988247793601	0.928
18	77037198	T	C	18	79277198	y	y	splicing	ATP9B(NM_198531:exon13:c.1411+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1411+2T>C;ENST00000307671:exon13:c.1411+2T>C)	.	.	0.98918007292081	0.636
18	77037198	T	G	18	79277198	y	y	splicing	ATP9B(NM_198531:exon13:c.1411+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon13:c.1411+2T>G;ENST00000307671:exon13:c.1411+2T>G)	.	.	0.999988247793601	0.928
18	77037199	A	C	18	79277199	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.999843715021307	0.938
18	77037199	A	G	18	79277199	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.982772551775432	0.762
18	77037199	A	T	18	79277199	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	0.999396689684702	0.96
18	77037200	C	A	18	79277200	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	1.31579056251402E-4	0.026
18	77037200	C	G	18	79277200	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	1.51477585386605E-4	0.07
18	77037200	C	T	18	79277200	y	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	1.32697821274733E-4	0.006
18	77037201	T	A	18	79277201	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.39930225223447E-5	0.018
18	77037201	T	C	18	79277201	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.80190019730557E-6	0.002
18	77037201	T	G	18	79277201	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.84414776544679E-5	0.036
18	77037202	G	A	18	79277202	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.43443256925794E-5	0.0
18	77037202	G	C	18	79277202	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.57943696776327E-4	0.04
18	77037202	G	T	18	79277202	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.47252128431173E-5	0.016
18	77037203	T	A	18	79277203	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.01891953694831E-4	0.0
18	77037203	T	C	18	79277203	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.78812062597761E-5	0.002
18	77037203	T	G	18	79277203	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.0680089989629E-5	0.0
18	77037204	T	A	18	79277204	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.5090022062029E-5	0.0
18	77037204	T	C	18	79277204	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.67368707643346E-5	0.0
18	77037204	T	G	18	79277204	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.83259870804626E-5	0.0
18	77063592	C	A	18	79303592	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.42081376438384E-5	0.016
18	77063592	C	G	18	79303592	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.79403696747188E-5	0.012
18	77063592	C	T	18	79303592	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.19551684620324E-5	0.0
18	77063593	C	A	18	79303593	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.10848474421238E-5	0.0
18	77063593	C	G	18	79303593	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.95357629480868E-5	0.006
18	77063593	C	T	18	79303593	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.92017314592258E-5	0.0
18	77063594	T	A	18	79303594	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.98674582927202E-4	0.06
18	77063594	T	C	18	79303594	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.35172141091169E-5	0.006
18	77063594	T	G	18	79303594	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.69522987796098E-4	0.06
18	77063595	T	A	18	79303595	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.37958332696546E-4	0.082
18	77063595	T	C	18	79303595	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.19898644029323E-5	0.0
18	77063595	T	G	18	79303595	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.52190774762892E-4	0.07
18	77063596	T	A	18	79303596	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0043694937414895	0.072
18	77063596	T	C	18	79303596	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.22218799481296E-5	0.0
18	77063596	T	G	18	79303596	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00264455712720871	0.064
18	77063597	A	C	18	79303597	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.17582813061898E-5	0.04
18	77063597	A	G	18	79303597	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.350317655481E-5	0.038
18	77063597	A	T	18	79303597	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.06463301795309E-5	0.036
18	77063598	T	A	18	79303598	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00107084686486701	0.052
18	77063598	T	C	18	79303598	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.40301495624152E-5	0.0
18	77063598	T	G	18	79303598	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.996706701563775	0.97
18	77063599	C	A	18	79303599	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.37414380409325E-4	0.024
18	77063599	C	G	18	79303599	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.04595843994207E-4	0.038
18	77063599	C	T	18	79303599	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.39296316501815E-5	0.0
18	77063600	C	A	18	79303600	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.32100889681219E-5	0.006
18	77063600	C	G	18	79303600	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.84544623930901E-5	0.002
18	77063600	C	T	18	79303600	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.10331806062991E-5	0.004
18	77063601	T	A	18	79303601	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.012394798637305	0.252
18	77063601	T	C	18	79303601	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.07106367247189E-4	0.002
18	77063601	T	G	18	79303601	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.224496311202409	0.592
18	77063602	A	C	18	79303602	y	y	splicing	ATP9B(NM_198531:exon14:c.1412-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1412-2A>C;ENST00000307671:exon14:c.1412-2A>C)	.	.	0.999969255906173	0.85
18	77063602	A	G	18	79303602	y	y	splicing	ATP9B(NM_198531:exon14:c.1412-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1412-2A>G;ENST00000307671:exon14:c.1412-2A>G)	.	.	0.999969255906173	0.84
18	77063602	A	T	18	79303602	y	y	splicing	ATP9B(NM_198531:exon14:c.1412-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1412-2A>T;ENST00000307671:exon14:c.1412-2A>T)	.	.	0.999969255906173	0.866
18	77063603	G	A	18	79303603	y	y	splicing	ATP9B(NM_198531:exon14:c.1412-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1412-1G>A;ENST00000307671:exon14:c.1412-1G>A)	.	.	0.99991547640501	0.908
18	77063603	G	C	18	79303603	y	y	splicing	ATP9B(NM_198531:exon14:c.1412-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1412-1G>C;ENST00000307671:exon14:c.1412-1G>C)	.	.	0.99991547640501	0.908
18	77063603	G	T	18	79303603	y	y	splicing	ATP9B(NM_198531:exon14:c.1412-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1412-1G>T;ENST00000307671:exon14:c.1412-1G>T)	.	.	0.99991547640501	0.908
18	77063604	G	A	18	79303604	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.G1412A:p.G471E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.G1412A:p.G471E;ENSG00000166377:ENST00000426216:exon14:c.G1412A:p.G471E;	0.999684742037582	0.904
18	77063604	G	C	18	79303604	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.G1412C:p.G471A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.G1412C:p.G471A;ENSG00000166377:ENST00000426216:exon14:c.G1412C:p.G471A;	0.999776424743192	0.972
18	77063604	G	T	18	79303604	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.G1412T:p.G471V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.G1412T:p.G471V;ENSG00000166377:ENST00000426216:exon14:c.G1412T:p.G471V;	0.999615045210682	0.972
18	77063605	A	C	18	79303605	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon14:c.A1413C:p.G471G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.A1413C:p.G471G;ENSG00000166377:ENST00000426216:exon14:c.A1413C:p.G471G;	5.98433939827666E-5	0.004
18	77063605	A	G	18	79303605	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon14:c.A1413G:p.G471G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.A1413G:p.G471G;ENSG00000166377:ENST00000426216:exon14:c.A1413G:p.G471G;	3.28212963034225E-5	0.012
18	77063605	A	T	18	79303605	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon14:c.A1413T:p.G471G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.A1413T:p.G471G;ENSG00000166377:ENST00000426216:exon14:c.A1413T:p.G471G;	1.46878921251595E-5	0.0
18	77063714	C	A	18	79303714	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.C1522A:p.Q508K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.C1522A:p.Q508K;ENSG00000166377:ENST00000426216:exon14:c.C1522A:p.Q508K;	8.66412067632868E-4	0.088
18	77063714	C	G	18	79303714	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.C1522G:p.Q508E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.C1522G:p.Q508E;ENSG00000166377:ENST00000426216:exon14:c.C1522G:p.Q508E;	0.00119799574706866	0.086
18	77063714	C	T	18	79303714	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon14:c.C1522T:p.Q508X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon14:c.C1522T:p.Q508X;ENSG00000166377:ENST00000426216:exon14:c.C1522T:p.Q508X;	0.983449818504086	0.7
18	77063715	A	C	18	79303715	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.A1523C:p.Q508P;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.A1523C:p.Q508P;ENSG00000166377:ENST00000426216:exon14:c.A1523C:p.Q508P;	0.438461602930651	0.432
18	77063715	A	G	18	79303715	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.A1523G:p.Q508R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.A1523G:p.Q508R;ENSG00000166377:ENST00000426216:exon14:c.A1523G:p.Q508R;	0.148734659239023	0.27
18	77063715	A	T	18	79303715	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.A1523T:p.Q508L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.A1523T:p.Q508L;ENSG00000166377:ENST00000426216:exon14:c.A1523T:p.Q508L;	0.422828979848425	0.454
18	77063716	G	A	18	79303716	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon14:c.G1524A:p.Q508Q;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.G1524A:p.Q508Q;ENSG00000166377:ENST00000426216:exon14:c.G1524A:p.Q508Q;	0.381789099374337	0.476
18	77063716	G	C	18	79303716	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.G1524C:p.Q508H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.G1524C:p.Q508H;ENSG00000166377:ENST00000426216:exon14:c.G1524C:p.Q508H;	0.942797597568302	0.612
18	77063716	G	T	18	79303716	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon14:c.G1524T:p.Q508H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon14:c.G1524T:p.Q508H;ENSG00000166377:ENST00000426216:exon14:c.G1524T:p.Q508H;	0.970563281366587	0.79
18	77063717	G	A	18	79303717	y	y	splicing	ATP9B(NM_198531:exon14:c.1524+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1524+1G>A;ENST00000307671:exon14:c.1524+1G>A)	.	.	0.999915710762489	0.932
18	77063717	G	C	18	79303717	y	y	splicing	ATP9B(NM_198531:exon14:c.1524+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1524+1G>C;ENST00000307671:exon14:c.1524+1G>C)	.	.	0.999915710762489	0.938
18	77063717	G	T	18	79303717	y	y	splicing	ATP9B(NM_198531:exon14:c.1524+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1524+1G>T;ENST00000307671:exon14:c.1524+1G>T)	.	.	0.999915710762489	0.934
18	77063718	T	A	18	79303718	y	y	splicing	ATP9B(NM_198531:exon14:c.1524+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1524+2T>A;ENST00000307671:exon14:c.1524+2T>A)	.	.	0.999957445332864	0.842
18	77063718	T	C	18	79303718	y	y	splicing	ATP9B(NM_198531:exon14:c.1524+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1524+2T>C;ENST00000307671:exon14:c.1524+2T>C)	.	.	0.834113259504832	0.582
18	77063718	T	G	18	79303718	y	y	splicing	ATP9B(NM_198531:exon14:c.1524+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon14:c.1524+2T>G;ENST00000307671:exon14:c.1524+2T>G)	.	.	0.999948728996279	0.836
18	77063719	A	C	18	79303719	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.317016350025617	0.444
18	77063719	A	G	18	79303719	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.09420052051652E-4	0.06
18	77063719	A	T	18	79303719	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.254350451208199	0.448
18	77063720	A	C	18	79303720	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.023707775545863	0.278
18	77063720	A	G	18	79303720	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0970824287456522	0.34
18	77063720	A	T	18	79303720	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0373781371162781	0.282
18	77063721	G	A	18	79303721	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.492847958744191	0.466
18	77063721	G	C	18	79303721	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.354126980427965	0.39
18	77063721	G	T	18	79303721	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.720908877799875	0.428
18	77063722	T	A	18	79303722	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00205612932946279	0.216
18	77063722	T	C	18	79303722	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00420180519003299	0.21
18	77063722	T	G	18	79303722	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.84155933145044E-4	0.114
18	77063723	G	A	18	79303723	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.25524929795369E-5	0.0
18	77063723	G	C	18	79303723	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.44454674516076E-5	0.0
18	77063723	G	T	18	79303723	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.97704761966359E-5	0.0
18	77063724	G	A	18	79303724	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.14143782234113E-5	0.004
18	77063724	G	C	18	79303724	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.98460887035943E-5	0.006
18	77063724	G	T	18	79303724	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.14143782234113E-5	0.004
18	77066974	C	A	18	79306974	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.1565335896667E-4	0.038
18	77066974	C	G	18	79306974	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.23450440064614E-4	0.03
18	77066974	C	T	18	79306974	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.71641570339139E-5	0.002
18	77066975	A	C	18	79306975	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.3419282073429E-5	0.0
18	77066975	A	G	18	79306975	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.39607586651613E-5	0.002
18	77066975	A	T	18	79306975	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.9004296542022E-5	0.04
18	77066976	T	A	18	79306976	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00680554231366582	0.23
18	77066976	T	C	18	79306976	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00112707533967493	0.052
18	77066976	T	G	18	79306976	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998604896730718	0.934
18	77066977	A	C	18	79306977	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.15019547439286E-5	0.016
18	77066977	A	G	18	79306977	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.21041365931586E-5	0.008
18	77066977	A	T	18	79306977	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.01903598953791E-5	0.018
18	77066978	T	A	18	79306978	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0151066138365357	0.32
18	77066978	T	C	18	79306978	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.86032689215887E-4	0.004
18	77066978	T	G	18	79306978	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999795246378594	0.988
18	77066979	T	A	18	79306979	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.735262581808759	0.548
18	77066979	T	C	18	79306979	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.47377038181357E-4	0.04
18	77066979	T	G	18	79306979	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.597829058944119	0.548
18	77066980	C	A	18	79306980	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0034522759627727	0.224
18	77066980	C	G	18	79306980	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00339580183245153	0.238
18	77066980	C	T	18	79306980	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.81252456701842E-5	0.002
18	77066981	T	A	18	79306981	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.841618917192278	0.63
18	77066981	T	C	18	79306981	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00154631598664319	0.184
18	77066981	T	G	18	79306981	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.990343768488501	0.696
18	77066982	A	C	18	79306982	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.25632805039277E-5	0.044
18	77066982	A	G	18	79306982	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.00233414961756E-4	0.058
18	77066982	A	T	18	79306982	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.95454688636304E-4	0.072
18	77066983	A	C	18	79306983	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.09254500066367E-4	0.042
18	77066983	A	G	18	79306983	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.76669711016347	0.372
18	77066983	A	T	18	79306983	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.10752742004957E-4	0.034
18	77066984	A	C	18	79306984	y	y	splicing	ATP9B(NM_198531:exon15:c.1525-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1525-2A>C;ENST00000307671:exon15:c.1525-2A>C)	.	.	0.999993143195943	0.936
18	77066984	A	G	18	79306984	y	y	splicing	ATP9B(NM_198531:exon15:c.1525-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1525-2A>G;ENST00000307671:exon15:c.1525-2A>G)	.	.	0.999993143195943	0.936
18	77066984	A	T	18	79306984	y	y	splicing	ATP9B(NM_198531:exon15:c.1525-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1525-2A>T;ENST00000307671:exon15:c.1525-2A>T)	.	.	0.999993143195943	0.936
18	77066985	G	A	18	79306985	y	y	splicing	ATP9B(NM_198531:exon15:c.1525-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1525-1G>A;ENST00000307671:exon15:c.1525-1G>A)	.	.	0.999987595831951	0.944
18	77066985	G	C	18	79306985	y	y	splicing	ATP9B(NM_198531:exon15:c.1525-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1525-1G>C;ENST00000307671:exon15:c.1525-1G>C)	.	.	0.999987595831951	0.944
18	77066985	G	T	18	79306985	y	y	splicing	ATP9B(NM_198531:exon15:c.1525-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1525-1G>T;ENST00000307671:exon15:c.1525-1G>T)	.	.	0.999987595831951	0.944
18	77066986	A	C	18	79306986	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.A1525C:p.M509L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon15:c.A1525C:p.M509L;ENSG00000166377:ENST00000426216:exon15:c.A1525C:p.M509L;	7.444240126591E-5	0.116
18	77066986	A	G	18	79306986	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.A1525G:p.M509V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon15:c.A1525G:p.M509V;ENSG00000166377:ENST00000426216:exon15:c.A1525G:p.M509V;	2.64610158021465E-5	0.0
18	77066986	A	T	18	79306986	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.A1525T:p.M509L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon15:c.A1525T:p.M509L;ENSG00000166377:ENST00000426216:exon15:c.A1525T:p.M509L;	1.74798638219546E-4	0.1
18	77066987	T	A	18	79306987	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.T1526A:p.M509K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon15:c.T1526A:p.M509K;ENSG00000166377:ENST00000426216:exon15:c.T1526A:p.M509K;	0.0106132955146125	0.192
18	77066987	T	C	18	79306987	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.T1526C:p.M509T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon15:c.T1526C:p.M509T;ENSG00000166377:ENST00000426216:exon15:c.T1526C:p.M509T;	0.00508402290082382	0.142
18	77066987	T	G	18	79306987	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.T1526G:p.M509R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon15:c.T1526G:p.M509R;ENSG00000166377:ENST00000426216:exon15:c.T1526G:p.M509R;	0.0143454103800976	0.154
18	77067232	G	A	18	79307232	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.G1771A:p.E591K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon1:c.G121A:p.E41K;ENSG00000166377:ENST00000307671:exon15:c.G1771A:p.E591K;ENSG00000166377:ENST00000426216:exon15:c.G1771A:p.E591K;ENSG00000166377:ENST00000589732:exon1:c.G43A:p.E15K;	0.838919876463784	0.798
18	77067232	G	C	18	79307232	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.G1771C:p.E591Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon1:c.G121C:p.E41Q;ENSG00000166377:ENST00000307671:exon15:c.G1771C:p.E591Q;ENSG00000166377:ENST00000426216:exon15:c.G1771C:p.E591Q;ENSG00000166377:ENST00000589732:exon1:c.G43C:p.E15Q;	0.786687251874722	0.752
18	77067232	G	T	18	79307232	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon15:c.G1771T:p.E591X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000589326:exon1:c.G121T:p.E41X;ENSG00000166377:ENST00000307671:exon15:c.G1771T:p.E591X;ENSG00000166377:ENST00000426216:exon15:c.G1771T:p.E591X;ENSG00000166377:ENST00000589732:exon1:c.G43T:p.E15X;	0.903353945120008	0.834
18	77067233	A	C	18	79307233	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.A1772C:p.E591A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon1:c.A122C:p.E41A;ENSG00000166377:ENST00000307671:exon15:c.A1772C:p.E591A;ENSG00000166377:ENST00000426216:exon15:c.A1772C:p.E591A;ENSG00000166377:ENST00000589732:exon1:c.A44C:p.E15A;	0.999606807879992	0.958
18	77067233	A	G	18	79307233	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.A1772G:p.E591G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon1:c.A122G:p.E41G;ENSG00000166377:ENST00000307671:exon15:c.A1772G:p.E591G;ENSG00000166377:ENST00000426216:exon15:c.A1772G:p.E591G;ENSG00000166377:ENST00000589732:exon1:c.A44G:p.E15G;	0.999909697418158	0.994
18	77067233	A	T	18	79307233	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.A1772T:p.E591V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon1:c.A122T:p.E41V;ENSG00000166377:ENST00000307671:exon15:c.A1772T:p.E591V;ENSG00000166377:ENST00000426216:exon15:c.A1772T:p.E591V;ENSG00000166377:ENST00000589732:exon1:c.A44T:p.E15V;	0.999893032547519	0.972
18	77067234	G	A	18	79307234	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon15:c.G1773A:p.E591E;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000589326:exon1:c.G123A:p.E41E;ENSG00000166377:ENST00000307671:exon15:c.G1773A:p.E591E;ENSG00000166377:ENST00000426216:exon15:c.G1773A:p.E591E;ENSG00000166377:ENST00000589732:exon1:c.G45A:p.E15E;	0.999944679859553	0.998
18	77067234	G	C	18	79307234	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.G1773C:p.E591D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon1:c.G123C:p.E41D;ENSG00000166377:ENST00000307671:exon15:c.G1773C:p.E591D;ENSG00000166377:ENST00000426216:exon15:c.G1773C:p.E591D;ENSG00000166377:ENST00000589732:exon1:c.G45C:p.E15D;	0.999988757426326	0.992
18	77067234	G	T	18	79307234	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon15:c.G1773T:p.E591D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon1:c.G123T:p.E41D;ENSG00000166377:ENST00000307671:exon15:c.G1773T:p.E591D;ENSG00000166377:ENST00000426216:exon15:c.G1773T:p.E591D;ENSG00000166377:ENST00000589732:exon1:c.G45T:p.E15D;	0.999974669090112	0.966
18	77067235	G	A	18	79307235	y	y	splicing	ATP9B(NM_198531:exon15:c.1773+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1773+1G>A;ENST00000307671:exon15:c.1773+1G>A;ENST00000589326:exon1:c.123+1G>A;ENST00000589732:exon1:c.45+1G>A)	.	.	0.999986675681007	0.936
18	77067235	G	C	18	79307235	y	y	splicing	ATP9B(NM_198531:exon15:c.1773+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1773+1G>C;ENST00000307671:exon15:c.1773+1G>C;ENST00000589326:exon1:c.123+1G>C;ENST00000589732:exon1:c.45+1G>C)	.	.	0.999986675681007	0.936
18	77067235	G	T	18	79307235	y	y	splicing	ATP9B(NM_198531:exon15:c.1773+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1773+1G>T;ENST00000307671:exon15:c.1773+1G>T;ENST00000589326:exon1:c.123+1G>T;ENST00000589732:exon1:c.45+1G>T)	.	.	0.999986675681007	0.936
18	77067236	T	A	18	79307236	y	y	splicing	ATP9B(NM_198531:exon15:c.1773+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1773+2T>A;ENST00000307671:exon15:c.1773+2T>A;ENST00000589326:exon1:c.123+2T>A;ENST00000589732:exon1:c.45+2T>A)	.	.	0.999989917668626	0.928
18	77067236	T	C	18	79307236	y	y	splicing	ATP9B(NM_198531:exon15:c.1773+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1773+2T>C;ENST00000307671:exon15:c.1773+2T>C;ENST00000589326:exon1:c.123+2T>C;ENST00000589732:exon1:c.45+2T>C)	.	.	0.991781671885672	0.632
18	77067236	T	G	18	79307236	y	y	splicing	ATP9B(NM_198531:exon15:c.1773+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon15:c.1773+2T>G;ENST00000307671:exon15:c.1773+2T>G;ENST00000589326:exon1:c.123+2T>G;ENST00000589732:exon1:c.45+2T>G)	.	.	0.999989917668626	0.928
18	77067237	C	A	18	79307237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.20330369716211E-4	0.162
18	77067237	C	G	18	79307237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.18957619313639E-4	0.082
18	77067237	C	T	18	79307237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.47412216822398E-4	0.012
18	77067238	A	C	18	79307238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.962381007759762	0.73
18	77067238	A	G	18	79307238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.889635376607012	0.586
18	77067238	A	T	18	79307238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.974656526289153	0.76
18	77067239	G	A	18	79307239	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.99991317551485	0.936
18	77067239	G	C	18	79307239	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999918846995242	0.876
18	77067239	G	T	18	79307239	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997975930193253	0.868
18	77067240	T	A	18	79307240	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.377263766388259	0.4
18	77067240	T	C	18	79307240	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.183330086917316	0.454
18	77067240	T	G	18	79307240	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.205181027852214	0.494
18	77067241	C	A	18	79307241	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.19413821089626E-4	0.0
18	77067241	C	G	18	79307241	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.292380426364E-4	0.0
18	77067241	C	T	18	79307241	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.93545865149626E-4	0.044
18	77067242	A	C	18	79307242	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.78389654127837E-5	0.0
18	77067242	A	G	18	79307242	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.14767442097854E-5	0.0
18	77067242	A	T	18	79307242	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.567602991935E-5	0.0
18	77089129	G	A	18	79329129	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997132238790539	0.956
18	77089129	G	C	18	79329129	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.69539822321131E-5	0.002
18	77089129	G	T	18	79329129	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.37700862381713E-5	0.0
18	77089130	G	A	18	79329130	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.18769017641991E-4	0.006
18	77089130	G	C	18	79329130	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.49420901020352E-5	0.0
18	77089130	G	T	18	79329130	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.13499899717869E-4	0.02
18	77089131	T	A	18	79329131	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.902581983493329	0.594
18	77089131	T	C	18	79329131	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00418948027479847	0.066
18	77089131	T	G	18	79329131	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.169798603124618	0.456
18	77089132	C	A	18	79329132	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.41379153491168E-4	0.038
18	77089132	C	G	18	79329132	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.18773406603102E-4	0.032
18	77089132	C	T	18	79329132	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.3516994661465E-5	0.0
18	77089133	T	A	18	79329133	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0958980658600386	0.264
18	77089133	T	C	18	79329133	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.19726079568188E-4	0.032
18	77089133	T	G	18	79329133	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0177780503575394	0.266
18	77089134	C	A	18	79329134	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00209357980692951	0.102
18	77089134	C	G	18	79329134	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00197170687350708	0.134
18	77089134	C	T	18	79329134	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.67101059198433E-5	0.002
18	77089135	C	A	18	79329135	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0122618195776531	0.27
18	77089135	C	G	18	79329135	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00441180642628906	0.24
18	77089135	C	T	18	79329135	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.79390793166653E-5	0.018
18	77089136	C	A	18	79329136	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997927302251755	0.876
18	77089136	C	G	18	79329136	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00207756134135013	0.134
18	77089136	C	T	18	79329136	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.23682289571704E-5	0.002
18	77089137	G	A	18	79329137	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.49642403821113E-5	0.0
18	77089137	G	C	18	79329137	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.77946199541631E-6	0.0
18	77089137	G	T	18	79329137	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.96419714679588E-5	0.0
18	77089138	T	A	18	79329138	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00264945666003044	0.09
18	77089138	T	C	18	79329138	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.62684387763744E-5	0.002
18	77089138	T	G	18	79329138	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.863163336454392	0.646
18	77089139	A	C	18	79329139	y	y	splicing	ATP9B(NM_198531:exon16:c.1774-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1774-2A>C;ENST00000307671:exon16:c.1774-2A>C;ENST00000589326:exon2:c.124-2A>C;ENST00000589732:exon2:c.46-2A>C)	.	.	0.999966203349492	0.944
18	77089139	A	G	18	79329139	y	y	splicing	ATP9B(NM_198531:exon16:c.1774-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1774-2A>G;ENST00000307671:exon16:c.1774-2A>G;ENST00000589326:exon2:c.124-2A>G;ENST00000589732:exon2:c.46-2A>G)	.	.	0.999966203349492	0.944
18	77089139	A	T	18	79329139	y	y	splicing	ATP9B(NM_198531:exon16:c.1774-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1774-2A>T;ENST00000307671:exon16:c.1774-2A>T;ENST00000589326:exon2:c.124-2A>T;ENST00000589732:exon2:c.46-2A>T)	.	.	0.999966203349492	0.94
18	77089140	G	A	18	79329140	y	y	splicing	ATP9B(NM_198531:exon16:c.1774-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1774-1G>A;ENST00000307671:exon16:c.1774-1G>A;ENST00000589326:exon2:c.124-1G>A;ENST00000589732:exon2:c.46-1G>A)	.	.	0.999981760802075	0.932
18	77089140	G	C	18	79329140	y	y	splicing	ATP9B(NM_198531:exon16:c.1774-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1774-1G>C;ENST00000307671:exon16:c.1774-1G>C;ENST00000589326:exon2:c.124-1G>C;ENST00000589732:exon2:c.46-1G>C)	.	.	0.999967335026411	0.932
18	77089140	G	T	18	79329140	y	y	splicing	ATP9B(NM_198531:exon16:c.1774-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1774-1G>T;ENST00000307671:exon16:c.1774-1G>T;ENST00000589326:exon2:c.124-1G>T;ENST00000589732:exon2:c.46-1G>T)	.	.	0.999981760802075	0.932
18	77089141	G	A	18	79329141	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.G1774A:p.V592I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G124A:p.V42I;ENSG00000166377:ENST00000307671:exon16:c.G1774A:p.V592I;ENSG00000166377:ENST00000426216:exon16:c.G1774A:p.V592I;ENSG00000166377:ENST00000589732:exon2:c.G46A:p.V16I;	0.500900079145182	0.528
18	77089141	G	C	18	79329141	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.G1774C:p.V592L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G124C:p.V42L;ENSG00000166377:ENST00000307671:exon16:c.G1774C:p.V592L;ENSG00000166377:ENST00000426216:exon16:c.G1774C:p.V592L;ENSG00000166377:ENST00000589732:exon2:c.G46C:p.V16L;	0.999813852534008	0.98
18	77089141	G	T	18	79329141	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.G1774T:p.V592F;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G124T:p.V42F;ENSG00000166377:ENST00000307671:exon16:c.G1774T:p.V592F;ENSG00000166377:ENST00000426216:exon16:c.G1774T:p.V592F;ENSG00000166377:ENST00000589732:exon2:c.G46T:p.V16F;	0.999831584109979	0.982
18	77089142	T	A	18	79329142	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.T1775A:p.V592D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.T125A:p.V42D;ENSG00000166377:ENST00000307671:exon16:c.T1775A:p.V592D;ENSG00000166377:ENST00000426216:exon16:c.T1775A:p.V592D;ENSG00000166377:ENST00000589732:exon2:c.T47A:p.V16D;	0.0531178195621988	0.492
18	77089142	T	C	18	79329142	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.T1775C:p.V592A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.T125C:p.V42A;ENSG00000166377:ENST00000307671:exon16:c.T1775C:p.V592A;ENSG00000166377:ENST00000426216:exon16:c.T1775C:p.V592A;ENSG00000166377:ENST00000589732:exon2:c.T47C:p.V16A;	0.0531178195621988	0.504
18	77089142	T	G	18	79329142	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.T1775G:p.V592G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.T125G:p.V42G;ENSG00000166377:ENST00000307671:exon16:c.T1775G:p.V592G;ENSG00000166377:ENST00000426216:exon16:c.T1775G:p.V592G;ENSG00000166377:ENST00000589732:exon2:c.T47G:p.V16G;	0.0975829645264943	0.43
18	77089300	A	C	18	79329300	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon16:c.A1933C:p.R645R;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.A283C:p.R95R;ENSG00000166377:ENST00000307671:exon16:c.A1933C:p.R645R;ENSG00000166377:ENST00000426216:exon16:c.A1933C:p.R645R;ENSG00000166377:ENST00000589732:exon2:c.A205C:p.R69R;	7.47078445090896E-5	0.004
18	77089300	A	G	18	79329300	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.A1933G:p.R645G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.A283G:p.R95G;ENSG00000166377:ENST00000307671:exon16:c.A1933G:p.R645G;ENSG00000166377:ENST00000426216:exon16:c.A1933G:p.R645G;ENSG00000166377:ENST00000589732:exon2:c.A205G:p.R69G;	0.00252647599347404	0.188
18	77089300	A	T	18	79329300	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.A1933T:p.R645W;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.A283T:p.R95W;ENSG00000166377:ENST00000307671:exon16:c.A1933T:p.R645W;ENSG00000166377:ENST00000426216:exon16:c.A1933T:p.R645W;ENSG00000166377:ENST00000589732:exon2:c.A205T:p.R69W;	0.00637945797979463	0.234
18	77089301	G	A	18	79329301	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.G1934A:p.R645K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G284A:p.R95K;ENSG00000166377:ENST00000307671:exon16:c.G1934A:p.R645K;ENSG00000166377:ENST00000426216:exon16:c.G1934A:p.R645K;ENSG00000166377:ENST00000589732:exon2:c.G206A:p.R69K;	8.47050348366949E-4	0.136
18	77089301	G	C	18	79329301	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.G1934C:p.R645T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G284C:p.R95T;ENSG00000166377:ENST00000307671:exon16:c.G1934C:p.R645T;ENSG00000166377:ENST00000426216:exon16:c.G1934C:p.R645T;ENSG00000166377:ENST00000589732:exon2:c.G206C:p.R69T;	0.00285776155616107	0.052
18	77089301	G	T	18	79329301	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.G1934T:p.R645M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G284T:p.R95M;ENSG00000166377:ENST00000307671:exon16:c.G1934T:p.R645M;ENSG00000166377:ENST00000426216:exon16:c.G1934T:p.R645M;ENSG00000166377:ENST00000589732:exon2:c.G206T:p.R69M;	0.00888532628309048	0.104
18	77089302	G	A	18	79329302	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon16:c.G1935A:p.R645R;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G285A:p.R95R;ENSG00000166377:ENST00000307671:exon16:c.G1935A:p.R645R;ENSG00000166377:ENST00000426216:exon16:c.G1935A:p.R645R;ENSG00000166377:ENST00000589732:exon2:c.G207A:p.R69R;	0.998819447874003	0.946
18	77089302	G	C	18	79329302	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.G1935C:p.R645S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G285C:p.R95S;ENSG00000166377:ENST00000307671:exon16:c.G1935C:p.R645S;ENSG00000166377:ENST00000426216:exon16:c.G1935C:p.R645S;ENSG00000166377:ENST00000589732:exon2:c.G207C:p.R69S;	0.999934653299337	0.982
18	77089302	G	T	18	79329302	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon16:c.G1935T:p.R645S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon2:c.G285T:p.R95S;ENSG00000166377:ENST00000307671:exon16:c.G1935T:p.R645S;ENSG00000166377:ENST00000426216:exon16:c.G1935T:p.R645S;ENSG00000166377:ENST00000589732:exon2:c.G207T:p.R69S;	0.99953222260738	0.988
18	77089303	G	A	18	79329303	y	y	splicing	ATP9B(NM_198531:exon16:c.1935+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1935+1G>A;ENST00000307671:exon16:c.1935+1G>A;ENST00000589326:exon2:c.285+1G>A;ENST00000589732:exon2:c.207+1G>A)	.	.	0.999955485601963	0.906
18	77089303	G	C	18	79329303	y	y	splicing	ATP9B(NM_198531:exon16:c.1935+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1935+1G>C;ENST00000307671:exon16:c.1935+1G>C;ENST00000589326:exon2:c.285+1G>C;ENST00000589732:exon2:c.207+1G>C)	.	.	0.999955485601963	0.9
18	77089303	G	T	18	79329303	y	y	splicing	ATP9B(NM_198531:exon16:c.1935+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1935+1G>T;ENST00000307671:exon16:c.1935+1G>T;ENST00000589326:exon2:c.285+1G>T;ENST00000589732:exon2:c.207+1G>T)	.	.	0.999955485601963	0.906
18	77089304	T	A	18	79329304	y	y	splicing	ATP9B(NM_198531:exon16:c.1935+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1935+2T>A;ENST00000307671:exon16:c.1935+2T>A;ENST00000589326:exon2:c.285+2T>A;ENST00000589732:exon2:c.207+2T>A)	.	.	0.999871793741964	0.798
18	77089304	T	C	18	79329304	y	y	splicing	ATP9B(NM_198531:exon16:c.1935+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1935+2T>C;ENST00000307671:exon16:c.1935+2T>C;ENST00000589326:exon2:c.285+2T>C;ENST00000589732:exon2:c.207+2T>C)	.	.	0.999840421478864	0.764
18	77089304	T	G	18	79329304	y	y	splicing	ATP9B(NM_198531:exon16:c.1935+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon16:c.1935+2T>G;ENST00000307671:exon16:c.1935+2T>G;ENST00000589326:exon2:c.285+2T>G;ENST00000589732:exon2:c.207+2T>G)	.	.	0.999931658812138	0.768
18	77089305	G	A	18	79329305	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.83517317024082E-5	0.004
18	77089305	G	C	18	79329305	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.596770986852292	0.538
18	77089305	G	T	18	79329305	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.713058321499996	0.476
18	77089306	A	C	18	79329306	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.751902777281669	0.522
18	77089306	A	G	18	79329306	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.94800380123256	0.618
18	77089306	A	T	18	79329306	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.963985291016793	0.638
18	77089307	G	A	18	79329307	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997728287500463	0.652
18	77089307	G	C	18	79329307	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.99188315901926	0.65
18	77089307	G	T	18	79329307	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.996296108679979	0.61
18	77089308	G	A	18	79329308	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.71605771494927E-5	0.006
18	77089308	G	C	18	79329308	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.57939587783839E-5	0.026
18	77089308	G	T	18	79329308	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.24194202143816E-5	0.0
18	77089309	C	A	18	79329309	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.6815803950322E-6	0.002
18	77089309	C	G	18	79329309	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.06341561599038E-6	0.0
18	77089309	C	T	18	79329309	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.04993150462405E-5	0.006
18	77089310	T	A	18	79329310	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.54782190019833E-5	0.0
18	77089310	T	C	18	79329310	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.29405757193836E-5	0.0
18	77089310	T	G	18	79329310	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.29405757193836E-5	0.0
18	77090000	G	A	18	79330000	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.7912827419673E-5	0.004
18	77090000	G	C	18	79330000	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.22493652236982E-6	0.008
18	77090000	G	T	18	79330000	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.31456134712277E-6	0.006
18	77090001	T	A	18	79330001	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0641104336151743	0.412
18	77090001	T	C	18	79330001	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.85755433836922E-4	0.11
18	77090001	T	G	18	79330001	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.069832611868649	0.41
18	77090002	T	A	18	79330002	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00498720425830742	0.286
18	77090002	T	C	18	79330002	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.43734511750311E-5	0.002
18	77090002	T	G	18	79330002	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00264106221819277	0.354
18	77090003	C	A	18	79330003	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.12915484741276E-5	0.036
18	77090003	C	G	18	79330003	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.52886566631365E-5	0.034
18	77090003	C	T	18	79330003	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.10169847388725E-5	0.0
18	77090004	T	A	18	79330004	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00227933183778007	0.042
18	77090004	T	C	18	79330004	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.2947517048861E-5	0.002
18	77090004	T	G	18	79330004	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.45381631846E-4	0.064
18	77090005	T	A	18	79330005	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.04491963421761E-4	0.046
18	77090005	T	C	18	79330005	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.23113603531369E-5	0.04
18	77090005	T	G	18	79330005	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.91892603398762E-4	0.058
18	77090006	T	A	18	79330006	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.991019180770416	0.91
18	77090006	T	C	18	79330006	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.95951430658247E-5	0.006
18	77090006	T	G	18	79330006	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00238954523411686	0.1
18	77090007	G	A	18	79330007	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.65875333422197E-5	0.002
18	77090007	G	C	18	79330007	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.04129417830287E-5	0.0
18	77090007	G	T	18	79330007	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.51272147665474E-5	0.014
18	77090008	A	C	18	79330008	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.96961119247445E-6	0.004
18	77090008	A	G	18	79330008	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.6518768341753E-5	0.0
18	77090008	A	T	18	79330008	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.03771193183643E-5	0.0
18	77090009	T	A	18	79330009	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00487683282907986	0.208
18	77090009	T	C	18	79330009	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.85496674085766E-5	0.012
18	77090009	T	G	18	79330009	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.681425385758284	0.608
18	77090010	A	C	18	79330010	y	y	splicing	ATP9B(NM_198531:exon17:c.1936-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.1936-2A>C;ENST00000307671:exon17:c.1936-2A>C;ENST00000589326:exon3:c.286-2A>C;ENST00000589732:exon3:c.208-2A>C)	.	.	0.999978156327223	0.93
18	77090010	A	G	18	79330010	y	y	splicing	ATP9B(NM_198531:exon17:c.1936-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.1936-2A>G;ENST00000307671:exon17:c.1936-2A>G;ENST00000589326:exon3:c.286-2A>G;ENST00000589732:exon3:c.208-2A>G)	.	.	0.999978156327223	0.93
18	77090010	A	T	18	79330010	y	y	splicing	ATP9B(NM_198531:exon17:c.1936-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.1936-2A>T;ENST00000307671:exon17:c.1936-2A>T;ENST00000589326:exon3:c.286-2A>T;ENST00000589732:exon3:c.208-2A>T)	.	.	0.999966514958823	0.934
18	77090011	G	A	18	79330011	y	y	splicing	ATP9B(NM_198531:exon17:c.1936-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.1936-1G>A;ENST00000307671:exon17:c.1936-1G>A;ENST00000589326:exon3:c.286-1G>A;ENST00000589732:exon3:c.208-1G>A)	.	.	0.999915710762489	0.95
18	77090011	G	C	18	79330011	y	y	splicing	ATP9B(NM_198531:exon17:c.1936-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.1936-1G>C;ENST00000307671:exon17:c.1936-1G>C;ENST00000589326:exon3:c.286-1G>C;ENST00000589732:exon3:c.208-1G>C)	.	.	0.999915710762489	0.954
18	77090011	G	T	18	79330011	y	y	splicing	ATP9B(NM_198531:exon17:c.1936-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.1936-1G>T;ENST00000307671:exon17:c.1936-1G>T;ENST00000589326:exon3:c.286-1G>T;ENST00000589732:exon3:c.208-1G>T)	.	.	0.999915710762489	0.954
18	77090012	G	A	18	79330012	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.G1936A:p.D646N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.G286A:p.D96N;ENSG00000166377:ENST00000307671:exon17:c.G1936A:p.D646N;ENSG00000166377:ENST00000426216:exon17:c.G1936A:p.D646N;ENSG00000166377:ENST00000589732:exon3:c.G208A:p.D70N;	0.998848964323927	0.9
18	77090012	G	C	18	79330012	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.G1936C:p.D646H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.G286C:p.D96H;ENSG00000166377:ENST00000307671:exon17:c.G1936C:p.D646H;ENSG00000166377:ENST00000426216:exon17:c.G1936C:p.D646H;ENSG00000166377:ENST00000589732:exon3:c.G208C:p.D70H;	0.99974640987556	0.934
18	77090012	G	T	18	79330012	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.G1936T:p.D646Y;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.G286T:p.D96Y;ENSG00000166377:ENST00000307671:exon17:c.G1936T:p.D646Y;ENSG00000166377:ENST00000426216:exon17:c.G1936T:p.D646Y;ENSG00000166377:ENST00000589732:exon3:c.G208T:p.D70Y;	0.999807842283199	0.958
18	77090013	A	C	18	79330013	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.A1937C:p.D646A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.A287C:p.D96A;ENSG00000166377:ENST00000307671:exon17:c.A1937C:p.D646A;ENSG00000166377:ENST00000426216:exon17:c.A1937C:p.D646A;ENSG00000166377:ENST00000589732:exon3:c.A209C:p.D70A;	0.831847753840005	0.844
18	77090013	A	G	18	79330013	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.A1937G:p.D646G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.A287G:p.D96G;ENSG00000166377:ENST00000307671:exon17:c.A1937G:p.D646G;ENSG00000166377:ENST00000426216:exon17:c.A1937G:p.D646G;ENSG00000166377:ENST00000589732:exon3:c.A209G:p.D70G;	0.671820420064725	0.712
18	77090013	A	T	18	79330013	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.A1937T:p.D646V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.A287T:p.D96V;ENSG00000166377:ENST00000307671:exon17:c.A1937T:p.D646V;ENSG00000166377:ENST00000426216:exon17:c.A1937T:p.D646V;ENSG00000166377:ENST00000589732:exon3:c.A209T:p.D70V;	0.589939711704325	0.692
18	77090102	G	A	18	79330102	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.G2026A:p.E676K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.G376A:p.E126K;ENSG00000166377:ENST00000307671:exon17:c.G2026A:p.E676K;ENSG00000166377:ENST00000426216:exon17:c.G2026A:p.E676K;ENSG00000166377:ENST00000589732:exon3:c.G298A:p.E100K;	0.939477738037073	0.816
18	77090102	G	C	18	79330102	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.G2026C:p.E676Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.G376C:p.E126Q;ENSG00000166377:ENST00000307671:exon17:c.G2026C:p.E676Q;ENSG00000166377:ENST00000426216:exon17:c.G2026C:p.E676Q;ENSG00000166377:ENST00000589732:exon3:c.G298C:p.E100Q;	0.920893271831255	0.708
18	77090102	G	T	18	79330102	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon17:c.G2026T:p.E676X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000589326:exon3:c.G376T:p.E126X;ENSG00000166377:ENST00000307671:exon17:c.G2026T:p.E676X;ENSG00000166377:ENST00000426216:exon17:c.G2026T:p.E676X;ENSG00000166377:ENST00000589732:exon3:c.G298T:p.E100X;	0.962079142275774	0.844
18	77090103	A	C	18	79330103	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.A2027C:p.E676A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.A377C:p.E126A;ENSG00000166377:ENST00000307671:exon17:c.A2027C:p.E676A;ENSG00000166377:ENST00000426216:exon17:c.A2027C:p.E676A;ENSG00000166377:ENST00000589732:exon3:c.A299C:p.E100A;	0.990692055244797	0.964
18	77090103	A	G	18	79330103	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.A2027G:p.E676G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.A377G:p.E126G;ENSG00000166377:ENST00000307671:exon17:c.A2027G:p.E676G;ENSG00000166377:ENST00000426216:exon17:c.A2027G:p.E676G;ENSG00000166377:ENST00000589732:exon3:c.A299G:p.E100G;	0.999827432190434	0.998
18	77090103	A	T	18	79330103	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.A2027T:p.E676V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.A377T:p.E126V;ENSG00000166377:ENST00000307671:exon17:c.A2027T:p.E676V;ENSG00000166377:ENST00000426216:exon17:c.A2027T:p.E676V;ENSG00000166377:ENST00000589732:exon3:c.A299T:p.E100V;	0.999787846448963	0.994
18	77090104	G	A	18	79330104	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon17:c.G2028A:p.E676E;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.G378A:p.E126E;ENSG00000166377:ENST00000307671:exon17:c.G2028A:p.E676E;ENSG00000166377:ENST00000426216:exon17:c.G2028A:p.E676E;ENSG00000166377:ENST00000589732:exon3:c.G300A:p.E100E;	0.999098216364893	0.946
18	77090104	G	C	18	79330104	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.G2028C:p.E676D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.G378C:p.E126D;ENSG00000166377:ENST00000307671:exon17:c.G2028C:p.E676D;ENSG00000166377:ENST00000426216:exon17:c.G2028C:p.E676D;ENSG00000166377:ENST00000589732:exon3:c.G300C:p.E100D;	0.999986225120451	0.964
18	77090104	G	T	18	79330104	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon17:c.G2028T:p.E676D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon3:c.G378T:p.E126D;ENSG00000166377:ENST00000307671:exon17:c.G2028T:p.E676D;ENSG00000166377:ENST00000426216:exon17:c.G2028T:p.E676D;ENSG00000166377:ENST00000589732:exon3:c.G300T:p.E100D;	0.999944012209925	0.974
18	77090105	G	A	18	79330105	y	y	splicing	ATP9B(NM_198531:exon17:c.2028+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.2028+1G>A;ENST00000307671:exon17:c.2028+1G>A;ENST00000589326:exon3:c.378+1G>A;ENST00000589732:exon3:c.300+1G>A)	.	.	0.999978952611685	0.928
18	77090105	G	C	18	79330105	y	y	splicing	ATP9B(NM_198531:exon17:c.2028+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.2028+1G>C;ENST00000307671:exon17:c.2028+1G>C;ENST00000589326:exon3:c.378+1G>C;ENST00000589732:exon3:c.300+1G>C)	.	.	0.99994568797423	0.928
18	77090105	G	T	18	79330105	y	y	splicing	ATP9B(NM_198531:exon17:c.2028+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.2028+1G>T;ENST00000307671:exon17:c.2028+1G>T;ENST00000589326:exon3:c.378+1G>T;ENST00000589732:exon3:c.300+1G>T)	.	.	0.99994568797423	0.928
18	77090106	T	A	18	79330106	y	y	splicing	ATP9B(NM_198531:exon17:c.2028+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.2028+2T>A;ENST00000307671:exon17:c.2028+2T>A;ENST00000589326:exon3:c.378+2T>A;ENST00000589732:exon3:c.300+2T>A)	.	.	0.999978278263889	0.944
18	77090106	T	C	18	79330106	y	y	splicing	ATP9B(NM_198531:exon17:c.2028+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.2028+2T>C;ENST00000307671:exon17:c.2028+2T>C;ENST00000589326:exon3:c.378+2T>C;ENST00000589732:exon3:c.300+2T>C)	.	.	0.963314098197945	0.592
18	77090106	T	G	18	79330106	y	y	splicing	ATP9B(NM_198531:exon17:c.2028+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon17:c.2028+2T>G;ENST00000307671:exon17:c.2028+2T>G;ENST00000589326:exon3:c.378+2T>G;ENST00000589732:exon3:c.300+2T>G)	.	.	0.9999784785434	0.946
18	77090107	A	C	18	79330107	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.952031706560197	0.52
18	77090107	A	G	18	79330107	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.141939315568708	0.46
18	77090107	A	T	18	79330107	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.897876981568083	0.534
18	77090108	T	A	18	79330108	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.27999306375016E-4	0.016
18	77090108	T	C	18	79330108	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.30850212348595E-5	0.0
18	77090108	T	G	18	79330108	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.45195144957241E-4	0.002
18	77090109	G	A	18	79330109	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.618759569007343	0.492
18	77090109	G	C	18	79330109	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.942696127369961	0.564
18	77090109	G	T	18	79330109	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.638627994670336	0.454
18	77090110	T	A	18	79330110	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00950935496210545	0.058
18	77090110	T	C	18	79330110	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0134757742811326	0.112
18	77090110	T	G	18	79330110	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0030012086149101	0.05
18	77090111	G	A	18	79330111	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.59047376669133E-5	0.0
18	77090111	G	C	18	79330111	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.91364354494448E-5	0.008
18	77090111	G	T	18	79330111	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.43134211345449E-5	0.0
18	77090112	A	C	18	79330112	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.20770969939085E-5	0.0
18	77090112	A	G	18	79330112	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.71329837638912E-5	0.0
18	77090112	A	T	18	79330112	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.97222665022883E-5	0.0
18	77092816	A	C	18	79332816	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.99153316237132E-5	0.0
18	77092816	A	G	18	79332816	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.99153316237132E-5	0.0
18	77092816	A	T	18	79332816	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.07620641825897E-5	0.0
18	77092817	T	A	18	79332817	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.7317653019178E-5	0.02
18	77092817	T	C	18	79332817	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.83607598453576E-5	0.014
18	77092817	T	G	18	79332817	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.83607598453576E-5	0.014
18	77092818	G	A	18	79332818	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.03359245426808E-5	0.004
18	77092818	G	C	18	79332818	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.03359245426808E-5	0.004
18	77092818	G	T	18	79332818	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.03359245426808E-5	0.004
18	77092819	A	C	18	79332819	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.45277156108894E-5	0.002
18	77092819	A	G	18	79332819	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.45277156108894E-5	0.002
18	77092819	A	T	18	79332819	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.78864525412067E-5	0.002
18	77092820	C	A	18	79332820	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092820	C	G	18	79332820	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092820	C	T	18	79332820	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092821	C	A	18	79332821	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092821	C	G	18	79332821	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092821	C	T	18	79332821	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092822	C	A	18	79332822	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092822	C	G	18	79332822	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092822	C	T	18	79332822	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.19594690008314E-5	0.038
18	77092823	T	A	18	79332823	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.08788427788342E-5	0.0
18	77092823	T	C	18	79332823	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.08788427788342E-5	0.0
18	77092823	T	G	18	79332823	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.08788427788342E-5	0.0
18	77092824	A	C	18	79332824	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.99153316237132E-5	0.002
18	77092824	A	G	18	79332824	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.99153316237132E-5	0.002
18	77092824	A	T	18	79332824	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.07620641825897E-5	0.002
18	77092825	T	A	18	79332825	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.07620641825897E-5	0.0
18	77092825	T	C	18	79332825	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.99153316237132E-5	0.0
18	77092825	T	G	18	79332825	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.99153316237132E-5	0.0
18	77092826	A	C	18	79332826	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000589326:exon4:c.379-2A>C)	.	.	2.45277156108894E-5	0.002
18	77092826	A	G	18	79332826	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000589326:exon4:c.379-2A>G)	.	.	2.45277156108894E-5	0.002
18	77092826	A	T	18	79332826	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000589326:exon4:c.379-2A>T)	.	.	2.45277156108894E-5	0.002
18	77092827	G	A	18	79332827	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000589326:exon4:c.379-1G>A)	.	.	1.99153316237132E-5	0.002
18	77092827	G	C	18	79332827	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000589326:exon4:c.379-1G>C)	.	.	1.99153316237132E-5	0.002
18	77092827	G	T	18	79332827	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000589326:exon4:c.379-1G>T)	.	.	1.99153316237132E-5	0.002
18	77092828	A	C	18	79332828	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000589326:exon4:c.A379C:p.R127R;	2.83607598453576E-5	0.014
18	77092828	A	G	18	79332828	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon4:c.A379G:p.R127G;	2.83607598453576E-5	0.014
18	77092828	A	T	18	79332828	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon4:c.A379T:p.R127W;	6.7317653019178E-5	0.022
18	77092829	G	A	18	79332829	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon4:c.G380A:p.R127K;	1.86431456331734E-5	0.0
18	77092829	G	C	18	79332829	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon4:c.G380C:p.R127T;	1.20695034961553E-5	0.008
18	77092829	G	T	18	79332829	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000589326:exon4:c.G380T:p.R127M;	1.20695034961553E-5	0.0
18	77096616	C	A	18	79336616	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.73691051332238E-5	0.006
18	77096616	C	G	18	79336616	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.66065903805649E-5	0.002
18	77096616	C	T	18	79336616	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.65604548525412E-5	0.0
18	77096617	T	A	18	79336617	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0171227861059646	0.28
18	77096617	T	C	18	79336617	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.92881973890745E-4	0.054
18	77096617	T	G	18	79336617	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0154999445990262	0.198
18	77096618	C	A	18	79336618	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00204958416456581	0.048
18	77096618	C	G	18	79336618	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00162648392357291	0.044
18	77096618	C	T	18	79336618	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.03542613368608E-5	0.0
18	77096619	C	A	18	79336619	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00226718702841347	0.192
18	77096619	C	G	18	79336619	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00120926409059894	0.074
18	77096619	C	T	18	79336619	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.82661980424804E-5	0.006
18	77096620	T	A	18	79336620	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.15759628526041E-4	0.096
18	77096620	T	C	18	79336620	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.36125009803787E-5	0.0
18	77096620	T	G	18	79336620	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.658036042696E-4	0.104
18	77096621	T	A	18	79336621	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0068937019100388	0.136
18	77096621	T	C	18	79336621	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.49436830956372E-4	0.002
18	77096621	T	G	18	79336621	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00538643784906674	0.1
18	77096622	T	A	18	79336622	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0323284738030266	0.096
18	77096622	T	C	18	79336622	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.9709635776558E-4	0.022
18	77096622	T	G	18	79336622	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.013305713196955	0.128
18	77096623	T	A	18	79336623	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0302000591596936	0.238
18	77096623	T	C	18	79336623	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00156743000850441	0.05
18	77096623	T	G	18	79336623	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0644721139356157	0.322
18	77096624	C	A	18	79336624	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.78526528221916E-5	0.0
18	77096624	C	G	18	79336624	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.16197475301067E-4	0.0
18	77096624	C	T	18	79336624	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.18090455865065E-5	0.0
18	77096625	C	A	18	79336625	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.316600518591824	0.538
18	77096625	C	G	18	79336625	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999764465994796	0.978
18	77096625	C	T	18	79336625	y	n	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00110812343128296	0.022
18	77096626	A	C	18	79336626	y	n	splicing	ATP9B(NM_198531:exon18:c.2029-2A>C)	.	.	exonic;splicing	ENSG00000166377;ENSG00000166377(ENST00000426216:exon18:c.2029-2A>C;ENST00000307671:exon18:c.2029-2A>C)	unknown	UNKNOWN	0.999992752818502	0.926
18	77096626	A	G	18	79336626	y	n	splicing	ATP9B(NM_198531:exon18:c.2029-2A>G)	.	.	exonic;splicing	ENSG00000166377;ENSG00000166377(ENST00000426216:exon18:c.2029-2A>G;ENST00000307671:exon18:c.2029-2A>G)	unknown	UNKNOWN	0.999992752818502	0.926
18	77096626	A	T	18	79336626	y	n	splicing	ATP9B(NM_198531:exon18:c.2029-2A>T)	.	.	exonic;splicing	ENSG00000166377;ENSG00000166377(ENST00000426216:exon18:c.2029-2A>T;ENST00000307671:exon18:c.2029-2A>T)	unknown	UNKNOWN	0.999992752818502	0.926
18	77096627	G	A	18	79336627	y	n	splicing	ATP9B(NM_198531:exon18:c.2029-1G>A)	.	.	exonic;splicing	ENSG00000166377;ENSG00000166377(ENST00000426216:exon18:c.2029-1G>A;ENST00000307671:exon18:c.2029-1G>A)	unknown	UNKNOWN	0.999981760802075	0.938
18	77096627	G	C	18	79336627	y	n	splicing	ATP9B(NM_198531:exon18:c.2029-1G>C)	.	.	exonic;splicing	ENSG00000166377;ENSG00000166377(ENST00000426216:exon18:c.2029-1G>C;ENST00000307671:exon18:c.2029-1G>C)	unknown	UNKNOWN	0.999981760802075	0.938
18	77096627	G	T	18	79336627	y	n	splicing	ATP9B(NM_198531:exon18:c.2029-1G>T)	.	.	exonic;splicing	ENSG00000166377;ENSG00000166377(ENST00000426216:exon18:c.2029-1G>T;ENST00000307671:exon18:c.2029-1G>T)	unknown	UNKNOWN	0.999981760802075	0.938
18	77096628	T	A	18	79336628	y	n	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.T2029A:p.C677S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.T2029A:p.C677S;ENSG00000166377:ENST00000426216:exon18:c.T2029A:p.C677S;	0.220586105379895	0.558
18	77096628	T	C	18	79336628	y	n	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.T2029C:p.C677R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.T2029C:p.C677R;ENSG00000166377:ENST00000426216:exon18:c.T2029C:p.C677R;	0.389642367135911	0.566
18	77096628	T	G	18	79336628	y	n	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.T2029G:p.C677G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.T2029G:p.C677G;ENSG00000166377:ENST00000426216:exon18:c.T2029G:p.C677G;	0.58614325072444	0.606
18	77096629	G	A	18	79336629	y	n	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.G2030A:p.C677Y;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.G2030A:p.C677Y;ENSG00000166377:ENST00000426216:exon18:c.G2030A:p.C677Y;	0.850696756839264	0.716
18	77096629	G	C	18	79336629	y	n	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.G2030C:p.C677S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.G2030C:p.C677S;ENSG00000166377:ENST00000426216:exon18:c.G2030C:p.C677S;	0.625502937118564	0.694
18	77096629	G	T	18	79336629	y	n	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.G2030T:p.C677F;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.G2030T:p.C677F;ENSG00000166377:ENST00000426216:exon18:c.G2030T:p.C677F;	0.910209795219805	0.768
18	77096709	G	A	18	79336709	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.G2110A:p.E704K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.G2110A:p.E704K;ENSG00000166377:ENST00000426216:exon18:c.G2110A:p.E704K;ENSG00000166377:ENST00000543761:exon2:c.G73A:p.E25K;	0.7496697939131	0.794
18	77096709	G	C	18	79336709	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.G2110C:p.E704Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.G2110C:p.E704Q;ENSG00000166377:ENST00000426216:exon18:c.G2110C:p.E704Q;ENSG00000166377:ENST00000543761:exon2:c.G73C:p.E25Q;	0.779734403925277	0.75
18	77096709	G	T	18	79336709	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon18:c.G2110T:p.E704X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon18:c.G2110T:p.E704X;ENSG00000166377:ENST00000426216:exon18:c.G2110T:p.E704X;ENSG00000166377:ENST00000543761:exon2:c.G73T:p.E25X;	0.843678271667373	0.848
18	77096710	A	C	18	79336710	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.A2111C:p.E704A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.A2111C:p.E704A;ENSG00000166377:ENST00000426216:exon18:c.A2111C:p.E704A;ENSG00000166377:ENST00000543761:exon2:c.A74C:p.E25A;	0.987027612166612	0.92
18	77096710	A	G	18	79336710	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.A2111G:p.E704G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.A2111G:p.E704G;ENSG00000166377:ENST00000426216:exon18:c.A2111G:p.E704G;ENSG00000166377:ENST00000543761:exon2:c.A74G:p.E25G;	0.999264605765528	0.97
18	77096710	A	T	18	79336710	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.A2111T:p.E704V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.A2111T:p.E704V;ENSG00000166377:ENST00000426216:exon18:c.A2111T:p.E704V;ENSG00000166377:ENST00000543761:exon2:c.A74T:p.E25V;	0.997027329152961	0.96
18	77096711	G	A	18	79336711	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon18:c.G2112A:p.E704E;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.G2112A:p.E704E;ENSG00000166377:ENST00000426216:exon18:c.G2112A:p.E704E;ENSG00000166377:ENST00000543761:exon2:c.G75A:p.E25E;	0.999696197465017	0.996
18	77096711	G	C	18	79336711	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.G2112C:p.E704D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.G2112C:p.E704D;ENSG00000166377:ENST00000426216:exon18:c.G2112C:p.E704D;ENSG00000166377:ENST00000543761:exon2:c.G75C:p.E25D;	0.999983774155342	0.948
18	77096711	G	T	18	79336711	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon18:c.G2112T:p.E704D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon18:c.G2112T:p.E704D;ENSG00000166377:ENST00000426216:exon18:c.G2112T:p.E704D;ENSG00000166377:ENST00000543761:exon2:c.G75T:p.E25D;	0.99989214231001	0.986
18	77096712	G	A	18	79336712	y	y	splicing	ATP9B(NM_198531:exon18:c.2112+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon18:c.2112+1G>A;ENST00000307671:exon18:c.2112+1G>A;ENST00000543761:exon2:c.75+1G>A;ENST00000588895:exon1:c.86+1G>A)	.	.	0.999981760802075	0.94
18	77096712	G	C	18	79336712	y	y	splicing	ATP9B(NM_198531:exon18:c.2112+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon18:c.2112+1G>C;ENST00000307671:exon18:c.2112+1G>C;ENST00000543761:exon2:c.75+1G>C;ENST00000588895:exon1:c.86+1G>C)	.	.	0.999981760802075	0.94
18	77096712	G	T	18	79336712	y	y	splicing	ATP9B(NM_198531:exon18:c.2112+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon18:c.2112+1G>T;ENST00000307671:exon18:c.2112+1G>T;ENST00000543761:exon2:c.75+1G>T;ENST00000588895:exon1:c.86+1G>T)	.	.	0.999981760802075	0.94
18	77096713	T	A	18	79336713	y	y	splicing	ATP9B(NM_198531:exon18:c.2112+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon18:c.2112+2T>A;ENST00000307671:exon18:c.2112+2T>A;ENST00000543761:exon2:c.75+2T>A;ENST00000588895:exon1:c.86+2T>A)	.	.	0.999992752818502	0.928
18	77096713	T	C	18	79336713	y	y	splicing	ATP9B(NM_198531:exon18:c.2112+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon18:c.2112+2T>C;ENST00000307671:exon18:c.2112+2T>C;ENST00000543761:exon2:c.75+2T>C;ENST00000588895:exon1:c.86+2T>C)	.	.	0.999929375071544	0.864
18	77096713	T	G	18	79336713	y	y	splicing	ATP9B(NM_198531:exon18:c.2112+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon18:c.2112+2T>G;ENST00000307671:exon18:c.2112+2T>G;ENST00000543761:exon2:c.75+2T>G;ENST00000588895:exon1:c.86+2T>G)	.	.	0.999992752818502	0.928
18	77096714	G	A	18	79336714	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.02493924206076E-5	0.002
18	77096714	G	C	18	79336714	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.587705245029263	0.486
18	77096714	G	T	18	79336714	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.436648056888904	0.436
18	77096715	A	C	18	79336715	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.866373584400292	0.608
18	77096715	A	G	18	79336715	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.949636311829536	0.73
18	77096715	A	T	18	79336715	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.985804989336544	0.716
18	77096716	G	A	18	79336716	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998024184049911	0.904
18	77096716	G	C	18	79336716	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998138728173238	0.782
18	77096716	G	T	18	79336716	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997926094646015	0.884
18	77096717	C	A	18	79336717	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.95711007820222E-4	0.106
18	77096717	C	G	18	79336717	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00153604394721582	0.04
18	77096717	C	T	18	79336717	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.76177391082534E-4	0.02
18	77096718	C	A	18	79336718	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.06341561599038E-6	0.0
18	77096718	C	G	18	79336718	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.82152694110954E-6	0.0
18	77096718	C	T	18	79336718	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.93718364281858E-5	0.0
18	77096719	G	A	18	79336719	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.08692400722682E-5	0.0
18	77096719	G	C	18	79336719	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.08692400722682E-5	0.0
18	77096719	G	T	18	79336719	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.08692400722682E-5	0.0
18	77097267	C	A	18	79337267	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00105709746270811	0.022
18	77097267	C	G	18	79337267	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.42844686791443E-4	0.006
18	77097267	C	T	18	79337267	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.96512012158279E-5	0.0
18	77097268	T	A	18	79337268	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0230449846841752	0.33
18	77097268	T	C	18	79337268	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00119180273184007	0.064
18	77097268	T	G	18	79337268	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0037579167917965	0.164
18	77097269	C	A	18	79337269	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00220151875230293	0.138
18	77097269	C	G	18	79337269	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.35698076909222E-4	0.082
18	77097269	C	T	18	79337269	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.54053606381237E-5	0.002
18	77097270	T	A	18	79337270	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999784379142478	0.986
18	77097270	T	C	18	79337270	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.06446579739253E-4	0.006
18	77097270	T	G	18	79337270	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0161433609757392	0.164
18	77097271	G	A	18	79337271	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.79648286157686E-4	0.028
18	77097271	G	C	18	79337271	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.06310460955552E-5	0.004
18	77097271	G	T	18	79337271	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.8515694099229E-5	0.002
18	77097272	T	A	18	79337272	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00582276134500798	0.118
18	77097272	T	C	18	79337272	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.59479456327496E-5	0.002
18	77097272	T	G	18	79337272	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00505126591384091	0.156
18	77097273	C	A	18	79337273	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00899800943704844	0.138
18	77097273	C	G	18	79337273	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00722634246214748	0.13
18	77097273	C	T	18	79337273	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.64161600326989E-5	0.006
18	77097274	C	A	18	79337274	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00730687495019384	0.118
18	77097274	C	G	18	79337274	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00635868822784962	0.136
18	77097274	C	T	18	79337274	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.1259732521338E-4	0.044
18	77097275	C	A	18	79337275	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.34704790691242E-5	0.0
18	77097275	C	G	18	79337275	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.56997687169241E-5	0.006
18	77097275	C	T	18	79337275	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.26374943046133E-4	0.006
18	77097276	C	A	18	79337276	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.95705639248879	0.7
18	77097276	C	G	18	79337276	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999930446628995	0.964
18	77097276	C	T	18	79337276	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00184806059184234	0.072
18	77097277	A	C	18	79337277	y	y	splicing	ATP9B(NM_198531:exon19:c.2113-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2113-2A>C;ENST00000307671:exon19:c.2113-2A>C;ENST00000543761:exon3:c.76-2A>C)	.	.	0.999966203349492	0.94
18	77097277	A	G	18	79337277	y	y	splicing	ATP9B(NM_198531:exon19:c.2113-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2113-2A>G;ENST00000307671:exon19:c.2113-2A>G;ENST00000543761:exon3:c.76-2A>G)	.	.	0.999966203349492	0.94
18	77097277	A	T	18	79337277	y	y	splicing	ATP9B(NM_198531:exon19:c.2113-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2113-2A>T;ENST00000307671:exon19:c.2113-2A>T;ENST00000543761:exon3:c.76-2A>T)	.	.	0.999966203349492	0.93
18	77097278	G	A	18	79337278	y	y	splicing	ATP9B(NM_198531:exon19:c.2113-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2113-1G>A;ENST00000307671:exon19:c.2113-1G>A;ENST00000543761:exon3:c.76-1G>A)	.	.	0.999915710762489	0.938
18	77097278	G	C	18	79337278	y	y	splicing	ATP9B(NM_198531:exon19:c.2113-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2113-1G>C;ENST00000307671:exon19:c.2113-1G>C;ENST00000543761:exon3:c.76-1G>C)	.	.	0.999915710762489	0.94
18	77097278	G	T	18	79337278	y	y	splicing	ATP9B(NM_198531:exon19:c.2113-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2113-1G>T;ENST00000307671:exon19:c.2113-1G>T;ENST00000543761:exon3:c.76-1G>T)	.	.	0.999915710762489	0.94
18	77097279	A	C	18	79337279	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.A2113C:p.S705R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.A2113C:p.S705R;ENSG00000166377:ENST00000426216:exon19:c.A2113C:p.S705R;ENSG00000166377:ENST00000543761:exon3:c.A76C:p.S26R;	0.0042152889871377	0.144
18	77097279	A	G	18	79337279	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.A2113G:p.S705G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.A2113G:p.S705G;ENSG00000166377:ENST00000426216:exon19:c.A2113G:p.S705G;ENSG00000166377:ENST00000543761:exon3:c.A76G:p.S26G;	0.00148269364178904	0.022
18	77097279	A	T	18	79337279	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.A2113T:p.S705C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.A2113T:p.S705C;ENSG00000166377:ENST00000426216:exon19:c.A2113T:p.S705C;ENSG00000166377:ENST00000543761:exon3:c.A76T:p.S26C;	0.123898664062232	0.378
18	77097280	G	A	18	79337280	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.G2114A:p.S705N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.G2114A:p.S705N;ENSG00000166377:ENST00000426216:exon19:c.G2114A:p.S705N;ENSG00000166377:ENST00000543761:exon3:c.G77A:p.S26N;	5.13360709163887E-4	0.048
18	77097280	G	C	18	79337280	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.G2114C:p.S705T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.G2114C:p.S705T;ENSG00000166377:ENST00000426216:exon19:c.G2114C:p.S705T;ENSG00000166377:ENST00000543761:exon3:c.G77C:p.S26T;	9.4212110107796E-4	0.038
18	77097280	G	T	18	79337280	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.G2114T:p.S705I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.G2114T:p.S705I;ENSG00000166377:ENST00000426216:exon19:c.G2114T:p.S705I;ENSG00000166377:ENST00000543761:exon3:c.G77T:p.S26I;	0.00428520181758075	0.03
18	77097447	A	C	18	79337447	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.A2281C:p.K761Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.A2281C:p.K761Q;ENSG00000166377:ENST00000426216:exon19:c.A2281C:p.K761Q;ENSG00000166377:ENST00000543761:exon3:c.A244C:p.K82Q;	0.803277989161467	0.706
18	77097447	A	G	18	79337447	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.A2281G:p.K761E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.A2281G:p.K761E;ENSG00000166377:ENST00000426216:exon19:c.A2281G:p.K761E;ENSG00000166377:ENST00000543761:exon3:c.A244G:p.K82E;	0.422863957803453	0.396
18	77097447	A	T	18	79337447	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon19:c.A2281T:p.K761X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon19:c.A2281T:p.K761X;ENSG00000166377:ENST00000426216:exon19:c.A2281T:p.K761X;ENSG00000166377:ENST00000543761:exon3:c.A244T:p.K82X;	0.996103444589827	0.892
18	77097448	A	C	18	79337448	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.A2282C:p.K761T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.A2282C:p.K761T;ENSG00000166377:ENST00000426216:exon19:c.A2282C:p.K761T;ENSG00000166377:ENST00000543761:exon3:c.A245C:p.K82T;	0.999909518211745	0.998
18	77097448	A	G	18	79337448	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.A2282G:p.K761R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.A2282G:p.K761R;ENSG00000166377:ENST00000426216:exon19:c.A2282G:p.K761R;ENSG00000166377:ENST00000543761:exon3:c.A245G:p.K82R;	0.999901539970799	1.0
18	77097448	A	T	18	79337448	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.A2282T:p.K761M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.A2282T:p.K761M;ENSG00000166377:ENST00000426216:exon19:c.A2282T:p.K761M;ENSG00000166377:ENST00000543761:exon3:c.A245T:p.K82M;	0.999908047824715	1.0
18	77097449	G	A	18	79337449	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon19:c.G2283A:p.K761K;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.G2283A:p.K761K;ENSG00000166377:ENST00000426216:exon19:c.G2283A:p.K761K;ENSG00000166377:ENST00000543761:exon3:c.G246A:p.K82K;	0.999983912380914	0.998
18	77097449	G	C	18	79337449	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.G2283C:p.K761N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.G2283C:p.K761N;ENSG00000166377:ENST00000426216:exon19:c.G2283C:p.K761N;ENSG00000166377:ENST00000543761:exon3:c.G246C:p.K82N;	0.999995925095857	1.0
18	77097449	G	T	18	79337449	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon19:c.G2283T:p.K761N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon19:c.G2283T:p.K761N;ENSG00000166377:ENST00000426216:exon19:c.G2283T:p.K761N;ENSG00000166377:ENST00000543761:exon3:c.G246T:p.K82N;	0.999989845216487	1.0
18	77097450	G	A	18	79337450	y	y	splicing	ATP9B(NM_198531:exon19:c.2283+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2283+1G>A;ENST00000307671:exon19:c.2283+1G>A;ENST00000543761:exon3:c.246+1G>A;ENST00000588895:exon2:c.219+1G>A)	.	.	0.999981760802075	0.948
18	77097450	G	C	18	79337450	y	y	splicing	ATP9B(NM_198531:exon19:c.2283+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2283+1G>C;ENST00000307671:exon19:c.2283+1G>C;ENST00000543761:exon3:c.246+1G>C;ENST00000588895:exon2:c.219+1G>C)	.	.	0.999981760802075	0.948
18	77097450	G	T	18	79337450	y	y	splicing	ATP9B(NM_198531:exon19:c.2283+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2283+1G>T;ENST00000307671:exon19:c.2283+1G>T;ENST00000543761:exon3:c.246+1G>T;ENST00000588895:exon2:c.219+1G>T)	.	.	0.999981760802075	0.948
18	77097451	T	A	18	79337451	y	y	splicing	ATP9B(NM_198531:exon19:c.2283+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2283+2T>A;ENST00000307671:exon19:c.2283+2T>A;ENST00000543761:exon3:c.246+2T>A;ENST00000588895:exon2:c.219+2T>A)	.	.	0.999989917668626	0.944
18	77097451	T	C	18	79337451	y	y	splicing	ATP9B(NM_198531:exon19:c.2283+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2283+2T>C;ENST00000307671:exon19:c.2283+2T>C;ENST00000543761:exon3:c.246+2T>C;ENST00000588895:exon2:c.219+2T>C)	.	.	0.990406353703364	0.63
18	77097451	T	G	18	79337451	y	y	splicing	ATP9B(NM_198531:exon19:c.2283+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon19:c.2283+2T>G;ENST00000307671:exon19:c.2283+2T>G;ENST00000543761:exon3:c.246+2T>G;ENST00000588895:exon2:c.219+2T>G)	.	.	0.999986903042585	0.944
18	77097452	A	C	18	79337452	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999864057268592	0.9
18	77097452	A	G	18	79337452	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.716208749496437	0.742
18	77097452	A	T	18	79337452	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999490674888315	0.902
18	77097453	C	A	18	79337453	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.62048113985401E-4	0.13
18	77097453	C	G	18	79337453	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00205214316418908	0.054
18	77097453	C	T	18	79337453	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00110977267035302	0.058
18	77097454	T	A	18	79337454	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.72476084748854E-5	0.016
18	77097454	T	C	18	79337454	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.79006486786601E-6	0.002
18	77097454	T	G	18	79337454	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.34985645325442E-5	0.018
18	77097455	G	A	18	79337455	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.28950145826485E-5	0.004
18	77097455	G	C	18	79337455	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.28950145826485E-5	0.01
18	77097455	G	T	18	79337455	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.74887103192061E-5	0.022
18	77097456	C	A	18	79337456	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.71042828002895E-5	0.032
18	77097456	C	G	18	79337456	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.44401018837748E-5	0.0
18	77097456	C	T	18	79337456	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.23048590914808E-5	0.0
18	77097457	A	C	18	79337457	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.4465432868367E-6	0.002
18	77097457	A	G	18	79337457	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.30081017321732E-6	0.0
18	77097457	A	T	18	79337457	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.28218638517427E-5	0.004
18	77102256	A	C	18	79342256	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	1.62353046608951E-5	0.0
18	77102256	A	G	18	79342256	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.975293327030584	0.976
18	77102256	A	T	18	79342256	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	1.62353046608951E-5	0.0
18	77102257	T	A	18	79342257	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.225065590585391	0.486
18	77102257	T	C	18	79342257	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.00148504362073705	0.166
18	77102257	T	G	18	79342257	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.99985801089953	0.972
18	77102258	T	A	18	79342258	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.999975185440981	0.964
18	77102258	T	C	18	79342258	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	7.76820566662318E-4	0.132
18	77102258	T	G	18	79342258	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.0198927236993279	0.398
18	77102259	G	A	18	79342259	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	5.07547978151187E-5	0.0
18	77102259	G	C	18	79342259	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	1.58645906776164E-5	0.0
18	77102259	G	T	18	79342259	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	1.67944982512943E-5	0.02
18	77102260	T	A	18	79342260	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.00298683113215147	0.156
18	77102260	T	C	18	79342260	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	5.63111215237327E-6	0.046
18	77102260	T	G	18	79342260	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.00179417998093349	0.08
18	77102261	T	A	18	79342261	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.0136429028128938	0.28
18	77102261	T	C	18	79342261	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	4.71176289259447E-5	0.028
18	77102261	T	G	18	79342261	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.00285547828199579	0.168
18	77102262	C	A	18	79342262	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.00857233300207937	0.32
18	77102262	C	G	18	79342262	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.00764520504316206	0.34
18	77102262	C	T	18	79342262	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	2.53871182223631E-5	0.0
18	77102263	C	A	18	79342263	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.119058027921555	0.164
18	77102263	C	G	18	79342263	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.00960347855881178	0.152
18	77102263	C	T	18	79342263	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	5.75077999002126E-5	0.008
18	77102264	C	A	18	79342264	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	1.35161435440719E-5	0.0
18	77102264	C	G	18	79342264	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	3.616733004609E-5	0.0
18	77102264	C	T	18	79342264	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	1.72063710433228E-5	0.008
18	77102265	T	A	18	79342265	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.0344758904887262	0.314
18	77102265	T	C	18	79342265	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	6.91474963810728E-5	0.026
18	77102265	T	G	18	79342265	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.862980754998726	0.652
18	77102266	A	C	18	79342266	y	y	splicing	ATP9B(NM_198531:exon20:c.2284-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2284-2A>C;ENST00000307671:exon20:c.2284-2A>C;ENST00000543761:exon4:c.247-2A>C;ENST00000588895:exon3:c.220-2A>C)	.	.	0.999971451041086	0.952
18	77102266	A	G	18	79342266	y	y	splicing	ATP9B(NM_198531:exon20:c.2284-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2284-2A>G;ENST00000307671:exon20:c.2284-2A>G;ENST00000543761:exon4:c.247-2A>G;ENST00000588895:exon3:c.220-2A>G)	.	.	0.999971451041086	0.944
18	77102266	A	T	18	79342266	y	y	splicing	ATP9B(NM_198531:exon20:c.2284-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2284-2A>T;ENST00000307671:exon20:c.2284-2A>T;ENST00000543761:exon4:c.247-2A>T;ENST00000588895:exon3:c.220-2A>T)	.	.	0.999972413313263	0.954
18	77102267	G	A	18	79342267	y	y	splicing	ATP9B(NM_198531:exon20:c.2284-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2284-1G>A;ENST00000307671:exon20:c.2284-1G>A;ENST00000543761:exon4:c.247-1G>A;ENST00000588895:exon3:c.220-1G>A)	.	.	0.999947942014418	0.954
18	77102267	G	C	18	79342267	y	y	splicing	ATP9B(NM_198531:exon20:c.2284-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2284-1G>C;ENST00000307671:exon20:c.2284-1G>C;ENST00000543761:exon4:c.247-1G>C;ENST00000588895:exon3:c.220-1G>C)	.	.	0.999947942014418	0.952
18	77102267	G	T	18	79342267	y	y	splicing	ATP9B(NM_198531:exon20:c.2284-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2284-1G>T;ENST00000307671:exon20:c.2284-1G>T;ENST00000543761:exon4:c.247-1G>T;ENST00000588895:exon3:c.220-1G>T)	.	.	0.999947942014418	0.952
18	77102268	A	C	18	79342268	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.A2284C:p.I762L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.A2284C:p.I762L;ENSG00000166377:ENST00000426216:exon20:c.A2284C:p.I762L;ENSG00000166377:ENST00000543761:exon4:c.A247C:p.I83L;	0.0119741347482114	0.31
18	77102268	A	G	18	79342268	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.A2284G:p.I762V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.A2284G:p.I762V;ENSG00000166377:ENST00000426216:exon20:c.A2284G:p.I762V;ENSG00000166377:ENST00000543761:exon4:c.A247G:p.I83V;	1.31969226614125E-5	0.0
18	77102268	A	T	18	79342268	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.A2284T:p.I762L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.A2284T:p.I762L;ENSG00000166377:ENST00000426216:exon20:c.A2284T:p.I762L;ENSG00000166377:ENST00000543761:exon4:c.A247T:p.I83L;	9.88320628419466E-4	0.27
18	77102269	T	A	18	79342269	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.T2285A:p.I762K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.T2285A:p.I762K;ENSG00000166377:ENST00000426216:exon20:c.T2285A:p.I762K;ENSG00000166377:ENST00000543761:exon4:c.T248A:p.I83K;	0.572008382012039	0.41
18	77102269	T	C	18	79342269	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.T2285C:p.I762T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.T2285C:p.I762T;ENSG00000166377:ENST00000426216:exon20:c.T2285C:p.I762T;ENSG00000166377:ENST00000543761:exon4:c.T248C:p.I83T;	0.0657366883984481	0.172
18	77102269	T	G	18	79342269	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.T2285G:p.I762R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.T2285G:p.I762R;ENSG00000166377:ENST00000426216:exon20:c.T2285G:p.I762R;ENSG00000166377:ENST00000543761:exon4:c.T248G:p.I83R;	0.607477046001416	0.436
18	77102364	C	A	18	79342364	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.C2380A:p.Q794K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.C2380A:p.Q794K;ENSG00000166377:ENST00000426216:exon20:c.C2380A:p.Q794K;ENSG00000166377:ENST00000543761:exon4:c.C343A:p.Q115K;	4.67420227851399E-4	0.096
18	77102364	C	G	18	79342364	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.C2380G:p.Q794E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.C2380G:p.Q794E;ENSG00000166377:ENST00000426216:exon20:c.C2380G:p.Q794E;ENSG00000166377:ENST00000543761:exon4:c.C343G:p.Q115E;	0.00174307913116886	0.106
18	77102364	C	T	18	79342364	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon20:c.C2380T:p.Q794X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon20:c.C2380T:p.Q794X;ENSG00000166377:ENST00000426216:exon20:c.C2380T:p.Q794X;ENSG00000166377:ENST00000543761:exon4:c.C343T:p.Q115X;	0.995759856753515	0.728
18	77102365	A	C	18	79342365	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.A2381C:p.Q794P;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.A2381C:p.Q794P;ENSG00000166377:ENST00000426216:exon20:c.A2381C:p.Q794P;ENSG00000166377:ENST00000543761:exon4:c.A344C:p.Q115P;	0.00848725586877254	0.292
18	77102365	A	G	18	79342365	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.A2381G:p.Q794R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.A2381G:p.Q794R;ENSG00000166377:ENST00000426216:exon20:c.A2381G:p.Q794R;ENSG00000166377:ENST00000543761:exon4:c.A344G:p.Q115R;	0.00598790153763975	0.166
18	77102365	A	T	18	79342365	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.A2381T:p.Q794L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.A2381T:p.Q794L;ENSG00000166377:ENST00000426216:exon20:c.A2381T:p.Q794L;ENSG00000166377:ENST00000543761:exon4:c.A344T:p.Q115L;	0.00511717255890642	0.276
18	77102366	G	A	18	79342366	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon20:c.G2382A:p.Q794Q;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.G2382A:p.Q794Q;ENSG00000166377:ENST00000426216:exon20:c.G2382A:p.Q794Q;ENSG00000166377:ENST00000543761:exon4:c.G345A:p.Q115Q;	0.0114306772984147	0.334
18	77102366	G	C	18	79342366	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.G2382C:p.Q794H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.G2382C:p.Q794H;ENSG00000166377:ENST00000426216:exon20:c.G2382C:p.Q794H;ENSG00000166377:ENST00000543761:exon4:c.G345C:p.Q115H;	0.0406769282965081	0.368
18	77102366	G	T	18	79342366	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon20:c.G2382T:p.Q794H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon20:c.G2382T:p.Q794H;ENSG00000166377:ENST00000426216:exon20:c.G2382T:p.Q794H;ENSG00000166377:ENST00000543761:exon4:c.G345T:p.Q115H;	0.190329989250502	0.374
18	77102367	G	A	18	79342367	y	y	splicing	ATP9B(NM_198531:exon20:c.2382+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2382+1G>A;ENST00000307671:exon20:c.2382+1G>A;ENST00000543761:exon4:c.345+1G>A;ENST00000588895:exon3:c.318+1G>A)	.	.	0.99996469115006	0.91
18	77102367	G	C	18	79342367	y	y	splicing	ATP9B(NM_198531:exon20:c.2382+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2382+1G>C;ENST00000307671:exon20:c.2382+1G>C;ENST00000543761:exon4:c.345+1G>C;ENST00000588895:exon3:c.318+1G>C)	.	.	0.99996469115006	0.904
18	77102367	G	T	18	79342367	y	y	splicing	ATP9B(NM_198531:exon20:c.2382+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2382+1G>T;ENST00000307671:exon20:c.2382+1G>T;ENST00000543761:exon4:c.345+1G>T;ENST00000588895:exon3:c.318+1G>T)	.	.	0.99996469115006	0.908
18	77102368	T	A	18	79342368	y	y	splicing	ATP9B(NM_198531:exon20:c.2382+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2382+2T>A;ENST00000307671:exon20:c.2382+2T>A;ENST00000543761:exon4:c.345+2T>A;ENST00000588895:exon3:c.318+2T>A)	.	.	0.999971317418422	0.884
18	77102368	T	C	18	79342368	y	y	splicing	ATP9B(NM_198531:exon20:c.2382+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2382+2T>C;ENST00000307671:exon20:c.2382+2T>C;ENST00000543761:exon4:c.345+2T>C;ENST00000588895:exon3:c.318+2T>C)	.	.	0.965825688230852	0.566
18	77102368	T	G	18	79342368	y	y	splicing	ATP9B(NM_198531:exon20:c.2382+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon20:c.2382+2T>G;ENST00000307671:exon20:c.2382+2T>G;ENST00000543761:exon4:c.345+2T>G;ENST00000588895:exon3:c.318+2T>G)	.	.	0.999972155025474	0.866
18	77102369	A	C	18	79342369	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.02024981707144	0.266
18	77102369	A	G	18	79342369	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	7.46335042943009E-5	0.002
18	77102369	A	T	18	79342369	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.0177743689129626	0.28
18	77102370	A	C	18	79342370	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.0382086037221413	0.26
18	77102370	A	G	18	79342370	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.0905472841439068	0.37
18	77102370	A	T	18	79342370	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.0559699815621329	0.274
18	77102371	G	A	18	79342371	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.301305929309761	0.47
18	77102371	G	C	18	79342371	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.613641933017343	0.446
18	77102371	G	T	18	79342371	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.785436833871085	0.532
18	77102372	T	A	18	79342372	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.0428406279257917	0.296
18	77102372	T	C	18	79342372	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.100610918632051	0.336
18	77102372	T	G	18	79342372	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	0.00721697755357336	0.204
18	77102373	A	C	18	79342373	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	1.10275622159801E-5	0.0
18	77102373	A	G	18	79342373	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	9.66721712464991E-6	0.008
18	77102373	A	T	18	79342373	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	1.49324761033339E-5	0.002
18	77102374	T	A	18	79342374	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	4.54404724015672E-5	0.0
18	77102374	T	C	18	79342374	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	4.54404724015672E-5	0.0
18	77102374	T	G	18	79342374	y	y	intronic	ATP9B	.	.	ncRNA_intronic	ENSG00000267015	.	.	4.54404724015672E-5	0.0
18	77104253	C	A	18	79344253	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00621549225474899	.
18	77104253	C	G	18	79344253	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0025329787157952	.
18	77104253	C	T	18	79344253	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.64796845375362E-4	.
18	77104254	C	A	18	79344254	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00275487422279161	.
18	77104254	C	G	18	79344254	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00152128642559913	.
18	77104254	C	T	18	79344254	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.84342842895749E-5	.
18	77104255	C	A	18	79344255	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00204980514806624	.
18	77104255	C	G	18	79344255	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.92100515100199E-4	.
18	77104255	C	T	18	79344255	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.99178243899928E-5	.
18	77104256	T	A	18	79344256	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0740245601607705	.
18	77104256	T	C	18	79344256	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.54096358716657E-4	.
18	77104256	T	G	18	79344256	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0526844944549626	.
18	77104257	T	A	18	79344257	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0146278954855481	.
18	77104257	T	C	18	79344257	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.88521936825801E-6	.
18	77104257	T	G	18	79344257	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00737275721079283	.
18	77104258	A	C	18	79344258	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.33083930565462E-5	.
18	77104258	A	G	18	79344258	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.83212169624681E-5	.
18	77104258	A	T	18	79344258	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.43512578723118E-5	.
18	77104259	A	C	18	79344259	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.29110075810168E-5	.
18	77104259	A	G	18	79344259	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00463918531370355	.
18	77104259	A	T	18	79344259	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.87413798334748E-5	.
18	77104260	T	A	18	79344260	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999902122712757	.
18	77104260	T	C	18	79344260	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00250383316492602	.
18	77104260	T	G	18	79344260	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999923526579001	.
18	77104261	G	A	18	79344261	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.06124362236269E-4	.
18	77104261	G	C	18	79344261	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.11860533265462E-4	.
18	77104261	G	T	18	79344261	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.07449158504534E-4	.
18	77104262	G	A	18	79344262	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.6728063352031E-5	.
18	77104262	G	C	18	79344262	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.27066503311331E-4	.
18	77104262	G	T	18	79344262	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.88504984218271E-5	.
18	77104263	A	C	18	79344263	y	y	splicing	ATP9B(NM_198531:exon21:c.2383-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2383-2A>C;ENST00000307671:exon21:c.2383-2A>C;ENST00000543761:exon5:c.346-2A>C;ENST00000588895:exon4:c.319-2A>C)	.	.	0.999981028856146	.
18	77104263	A	G	18	79344263	y	y	splicing	ATP9B(NM_198531:exon21:c.2383-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2383-2A>G;ENST00000307671:exon21:c.2383-2A>G;ENST00000543761:exon5:c.346-2A>G;ENST00000588895:exon4:c.319-2A>G)	.	.	0.999981028856146	.
18	77104263	A	T	18	79344263	y	y	splicing	ATP9B(NM_198531:exon21:c.2383-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2383-2A>T;ENST00000307671:exon21:c.2383-2A>T;ENST00000543761:exon5:c.346-2A>T;ENST00000588895:exon4:c.319-2A>T)	.	.	0.999987839904087	.
18	77104264	G	A	18	79344264	y	y	splicing	ATP9B(NM_198531:exon21:c.2383-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2383-1G>A;ENST00000307671:exon21:c.2383-1G>A;ENST00000543761:exon5:c.346-1G>A;ENST00000588895:exon4:c.319-1G>A)	.	.	0.999971938266532	.
18	77104264	G	C	18	79344264	y	y	splicing	ATP9B(NM_198531:exon21:c.2383-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2383-1G>C;ENST00000307671:exon21:c.2383-1G>C;ENST00000543761:exon5:c.346-1G>C;ENST00000588895:exon4:c.319-1G>C)	.	.	0.999977844058774	.
18	77104264	G	T	18	79344264	y	y	splicing	ATP9B(NM_198531:exon21:c.2383-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2383-1G>T;ENST00000307671:exon21:c.2383-1G>T;ENST00000543761:exon5:c.346-1G>T;ENST00000588895:exon4:c.319-1G>T)	.	.	0.999977844058774	.
18	77104265	G	A	18	79344265	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.G2383A:p.V795I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.G2383A:p.V795I;ENSG00000166377:ENST00000426216:exon21:c.G2383A:p.V795I;ENSG00000166377:ENST00000543761:exon5:c.G346A:p.V116I;	0.457785377177816	.
18	77104265	G	C	18	79344265	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.G2383C:p.V795L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.G2383C:p.V795L;ENSG00000166377:ENST00000426216:exon21:c.G2383C:p.V795L;ENSG00000166377:ENST00000543761:exon5:c.G346C:p.V116L;	0.993435242357343	.
18	77104265	G	T	18	79344265	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.G2383T:p.V795L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.G2383T:p.V795L;ENSG00000166377:ENST00000426216:exon21:c.G2383T:p.V795L;ENSG00000166377:ENST00000543761:exon5:c.G346T:p.V116L;	0.978762046576305	.
18	77104266	T	A	18	79344266	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.T2384A:p.V795E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.T2384A:p.V795E;ENSG00000166377:ENST00000426216:exon21:c.T2384A:p.V795E;ENSG00000166377:ENST00000543761:exon5:c.T347A:p.V116E;	0.0877256473273793	.
18	77104266	T	C	18	79344266	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.T2384C:p.V795A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.T2384C:p.V795A;ENSG00000166377:ENST00000426216:exon21:c.T2384C:p.V795A;ENSG00000166377:ENST00000543761:exon5:c.T347C:p.V116A;	0.134126186889974	.
18	77104266	T	G	18	79344266	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.T2384G:p.V795G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.T2384G:p.V795G;ENSG00000166377:ENST00000426216:exon21:c.T2384G:p.V795G;ENSG00000166377:ENST00000543761:exon5:c.T347G:p.V116G;	0.0596279215570311	.
18	77104352	G	A	18	79344352	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.G2470A:p.E824K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.G2470A:p.E824K;ENSG00000166377:ENST00000426216:exon21:c.G2470A:p.E824K;ENSG00000166377:ENST00000590477:exon1:c.G25A:p.E9K;ENSG00000166377:ENST00000543761:exon5:c.G433A:p.E145K;	0.642733321881716	0.714
18	77104352	G	C	18	79344352	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.G2470C:p.E824Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.G2470C:p.E824Q;ENSG00000166377:ENST00000426216:exon21:c.G2470C:p.E824Q;ENSG00000166377:ENST00000590477:exon1:c.G25C:p.E9Q;ENSG00000166377:ENST00000543761:exon5:c.G433C:p.E145Q;	0.0726084262417574	0.35
18	77104352	G	T	18	79344352	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon21:c.G2470T:p.E824X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon21:c.G2470T:p.E824X;ENSG00000166377:ENST00000426216:exon21:c.G2470T:p.E824X;ENSG00000166377:ENST00000590477:exon1:c.G25T:p.E9X;ENSG00000166377:ENST00000543761:exon5:c.G433T:p.E145X;	0.811609790275679	0.842
18	77104353	A	C	18	79344353	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.A2471C:p.E824A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.A2471C:p.E824A;ENSG00000166377:ENST00000426216:exon21:c.A2471C:p.E824A;ENSG00000166377:ENST00000590477:exon1:c.A26C:p.E9A;ENSG00000166377:ENST00000543761:exon5:c.A434C:p.E145A;	0.926455893729154	0.846
18	77104353	A	G	18	79344353	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.A2471G:p.E824G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.A2471G:p.E824G;ENSG00000166377:ENST00000426216:exon21:c.A2471G:p.E824G;ENSG00000166377:ENST00000590477:exon1:c.A26G:p.E9G;ENSG00000166377:ENST00000543761:exon5:c.A434G:p.E145G;	0.997287718511445	0.966
18	77104353	A	T	18	79344353	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.A2471T:p.E824V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.A2471T:p.E824V;ENSG00000166377:ENST00000426216:exon21:c.A2471T:p.E824V;ENSG00000166377:ENST00000590477:exon1:c.A26T:p.E9V;ENSG00000166377:ENST00000543761:exon5:c.A434T:p.E145V;	0.994061762947622	0.912
18	77104354	G	A	18	79344354	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon21:c.G2472A:p.E824E;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.G2472A:p.E824E;ENSG00000166377:ENST00000426216:exon21:c.G2472A:p.E824E;ENSG00000166377:ENST00000590477:exon1:c.G27A:p.E9E;ENSG00000166377:ENST00000543761:exon5:c.G435A:p.E145E;	0.986328446388204	0.928
18	77104354	G	C	18	79344354	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.G2472C:p.E824D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.G2472C:p.E824D;ENSG00000166377:ENST00000426216:exon21:c.G2472C:p.E824D;ENSG00000166377:ENST00000590477:exon1:c.G27C:p.E9D;ENSG00000166377:ENST00000543761:exon5:c.G435C:p.E145D;	0.999820480200025	0.934
18	77104354	G	T	18	79344354	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon21:c.G2472T:p.E824D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon21:c.G2472T:p.E824D;ENSG00000166377:ENST00000426216:exon21:c.G2472T:p.E824D;ENSG00000166377:ENST00000590477:exon1:c.G27T:p.E9D;ENSG00000166377:ENST00000543761:exon5:c.G435T:p.E145D;	0.99963426869356	0.992
18	77104355	G	A	18	79344355	y	y	splicing	ATP9B(NM_198531:exon21:c.2472+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2472+1G>A;ENST00000307671:exon21:c.2472+1G>A;ENST00000543761:exon5:c.435+1G>A;ENST00000588895:exon4:c.408+1G>A;ENST00000590477:exon1:c.27+1G>A)	.	.	0.999938422912956	0.932
18	77104355	G	C	18	79344355	y	y	splicing	ATP9B(NM_198531:exon21:c.2472+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2472+1G>C;ENST00000307671:exon21:c.2472+1G>C;ENST00000543761:exon5:c.435+1G>C;ENST00000588895:exon4:c.408+1G>C;ENST00000590477:exon1:c.27+1G>C)	.	.	0.999938422912956	0.936
18	77104355	G	T	18	79344355	y	y	splicing	ATP9B(NM_198531:exon21:c.2472+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2472+1G>T;ENST00000307671:exon21:c.2472+1G>T;ENST00000543761:exon5:c.435+1G>T;ENST00000588895:exon4:c.408+1G>T;ENST00000590477:exon1:c.27+1G>T)	.	.	0.999938422912956	0.934
18	77104356	T	A	18	79344356	y	y	splicing	ATP9B(NM_198531:exon21:c.2472+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2472+2T>A;ENST00000307671:exon21:c.2472+2T>A;ENST00000543761:exon5:c.435+2T>A;ENST00000588895:exon4:c.408+2T>A;ENST00000590477:exon1:c.27+2T>A)	.	.	0.999967001206676	0.928
18	77104356	T	C	18	79344356	y	y	splicing	ATP9B(NM_198531:exon21:c.2472+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2472+2T>C;ENST00000307671:exon21:c.2472+2T>C;ENST00000543761:exon5:c.435+2T>C;ENST00000588895:exon4:c.408+2T>C;ENST00000590477:exon1:c.27+2T>C)	.	.	0.932284871256883	0.636
18	77104356	T	G	18	79344356	y	y	splicing	ATP9B(NM_198531:exon21:c.2472+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon21:c.2472+2T>G;ENST00000307671:exon21:c.2472+2T>G;ENST00000543761:exon5:c.435+2T>G;ENST00000588895:exon4:c.408+2T>G;ENST00000590477:exon1:c.27+2T>G)	.	.	0.999967001206676	0.938
18	77104357	A	C	18	79344357	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.87389654835538	0.438
18	77104357	A	G	18	79344357	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0021517163579027	0.04
18	77104357	A	T	18	79344357	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.684633963596497	0.398
18	77104358	A	C	18	79344358	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.192363393580365	0.376
18	77104358	A	G	18	79344358	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.775497017187911	0.522
18	77104358	A	T	18	79344358	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.334641007835631	0.402
18	77104359	G	A	18	79344359	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.678748790424211	0.53
18	77104359	G	C	18	79344359	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.502926320454118	0.5
18	77104359	G	T	18	79344359	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.801993076490709	0.534
18	77104360	G	A	18	79344360	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.07034042734991E-5	0.0
18	77104360	G	C	18	79344360	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.24481240174649E-4	0.0
18	77104360	G	T	18	79344360	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.31383827191691E-5	0.034
18	77104361	C	A	18	79344361	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.05374587848121E-4	0.016
18	77104361	C	G	18	79344361	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.140068357925E-4	0.02
18	77104361	C	T	18	79344361	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.140068357925E-4	0.012
18	77104362	T	A	18	79344362	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.12967705479703E-5	0.0
18	77104362	T	C	18	79344362	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.31671506638536E-5	0.0
18	77104362	T	G	18	79344362	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.05567792764038E-5	0.0
18	77105416	T	A	18	79345416	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00332306097147822	0.132
18	77105416	T	C	18	79345416	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.09919128695112E-5	0.0
18	77105416	T	G	18	79345416	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00305572318910065	0.132
18	77105417	T	A	18	79345417	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0207461239412091	0.294
18	77105417	T	C	18	79345417	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.01689422027398E-4	0.058
18	77105417	T	G	18	79345417	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00178593198642238	0.154
18	77105418	T	A	18	79345418	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999912345234258	0.99
18	77105418	T	C	18	79345418	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.1551566048894E-4	0.044
18	77105418	T	G	18	79345418	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.208521142861633	0.332
18	77105419	G	A	18	79345419	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.69021912406712E-5	0.0
18	77105419	G	C	18	79345419	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.40029959298658E-5	0.0
18	77105419	G	T	18	79345419	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.4988360059907E-5	0.0
18	77105420	T	A	18	79345420	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0228593186661904	0.124
18	77105420	T	C	18	79345420	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.97276135165191E-5	0.0
18	77105420	T	G	18	79345420	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0109690481198389	0.08
18	77105421	T	A	18	79345421	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.02828753972949E-4	0.048
18	77105421	T	C	18	79345421	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.35400976800765E-5	0.0
18	77105421	T	G	18	79345421	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00155924040819672	0.066
18	77105422	T	A	18	79345422	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0169225895549734	0.362
18	77105422	T	C	18	79345422	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.10596583040834E-5	0.036
18	77105422	T	G	18	79345422	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0123975775944631	0.394
18	77105423	T	A	18	79345423	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.109870784234291	0.248
18	77105423	T	C	18	79345423	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00224889253722343	0.066
18	77105423	T	G	18	79345423	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.106170690304565	0.248
18	77105424	C	A	18	79345424	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.89097695127381E-5	0.0
18	77105424	C	G	18	79345424	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.89097695127381E-5	0.0
18	77105424	C	T	18	79345424	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.89097695127381E-5	0.0
18	77105425	C	A	18	79345425	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0261800191673786	0.45
18	77105425	C	G	18	79345425	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.991464162039218	0.896
18	77105425	C	T	18	79345425	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.52467622981479E-4	0.126
18	77105426	A	C	18	79345426	y	y	splicing	ATP9B(NM_198531:exon22:c.2473-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2473-2A>C;ENST00000307671:exon22:c.2473-2A>C;ENST00000543761:exon6:c.436-2A>C;ENST00000588895:exon5:c.409-2A>C;ENST00000590477:exon2:c.28-2A>C)	.	.	0.999966203349492	0.928
18	77105426	A	G	18	79345426	y	y	splicing	ATP9B(NM_198531:exon22:c.2473-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2473-2A>G;ENST00000307671:exon22:c.2473-2A>G;ENST00000543761:exon6:c.436-2A>G;ENST00000588895:exon5:c.409-2A>G;ENST00000590477:exon2:c.28-2A>G)	.	.	0.999966203349492	0.92
18	77105426	A	T	18	79345426	y	y	splicing	ATP9B(NM_198531:exon22:c.2473-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2473-2A>T;ENST00000307671:exon22:c.2473-2A>T;ENST00000543761:exon6:c.436-2A>T;ENST00000588895:exon5:c.409-2A>T;ENST00000590477:exon2:c.28-2A>T)	.	.	0.999966203349492	0.926
18	77105427	G	A	18	79345427	y	y	splicing	ATP9B(NM_198531:exon22:c.2473-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2473-1G>A;ENST00000307671:exon22:c.2473-1G>A;ENST00000543761:exon6:c.436-1G>A;ENST00000588895:exon5:c.409-1G>A;ENST00000590477:exon2:c.28-1G>A)	.	.	0.999930329503934	0.938
18	77105427	G	C	18	79345427	y	y	splicing	ATP9B(NM_198531:exon22:c.2473-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2473-1G>C;ENST00000307671:exon22:c.2473-1G>C;ENST00000543761:exon6:c.436-1G>C;ENST00000588895:exon5:c.409-1G>C;ENST00000590477:exon2:c.28-1G>C)	.	.	0.999930329503934	0.94
18	77105427	G	T	18	79345427	y	y	splicing	ATP9B(NM_198531:exon22:c.2473-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2473-1G>T;ENST00000307671:exon22:c.2473-1G>T;ENST00000543761:exon6:c.436-1G>T;ENST00000588895:exon5:c.409-1G>T;ENST00000590477:exon2:c.28-1G>T)	.	.	0.999930329503934	0.94
18	77105428	G	A	18	79345428	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.G2473A:p.V825I;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.G2473A:p.V825I;ENSG00000166377:ENST00000426216:exon22:c.G2473A:p.V825I;ENSG00000166377:ENST00000590477:exon2:c.G28A:p.V10I;ENSG00000166377:ENST00000543761:exon6:c.G436A:p.V146I;	0.997253764453627	0.8
18	77105428	G	C	18	79345428	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.G2473C:p.V825L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.G2473C:p.V825L;ENSG00000166377:ENST00000426216:exon22:c.G2473C:p.V825L;ENSG00000166377:ENST00000590477:exon2:c.G28C:p.V10L;ENSG00000166377:ENST00000543761:exon6:c.G436C:p.V146L;	0.880699219112974	0.582
18	77105428	G	T	18	79345428	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.G2473T:p.V825F;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.G2473T:p.V825F;ENSG00000166377:ENST00000426216:exon22:c.G2473T:p.V825F;ENSG00000166377:ENST00000590477:exon2:c.G28T:p.V10F;ENSG00000166377:ENST00000543761:exon6:c.G436T:p.V146F;	0.999794952392364	0.996
18	77105429	T	A	18	79345429	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.T2474A:p.V825D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.T2474A:p.V825D;ENSG00000166377:ENST00000426216:exon22:c.T2474A:p.V825D;ENSG00000166377:ENST00000590477:exon2:c.T29A:p.V10D;ENSG00000166377:ENST00000543761:exon6:c.T437A:p.V146D;	0.121594419031862	0.336
18	77105429	T	C	18	79345429	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.T2474C:p.V825A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.T2474C:p.V825A;ENSG00000166377:ENST00000426216:exon22:c.T2474C:p.V825A;ENSG00000166377:ENST00000590477:exon2:c.T29C:p.V10A;ENSG00000166377:ENST00000543761:exon6:c.T437C:p.V146A;	0.234200490509468	0.442
18	77105429	T	G	18	79345429	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.T2474G:p.V825G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.T2474G:p.V825G;ENSG00000166377:ENST00000426216:exon22:c.T2474G:p.V825G;ENSG00000166377:ENST00000590477:exon2:c.T29G:p.V10G;ENSG00000166377:ENST00000543761:exon6:c.T437G:p.V146G;	0.105292256281009	0.356
18	77105570	T	A	18	79345570	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.T2615A:p.I872N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.T2615A:p.I872N;ENSG00000166377:ENST00000426216:exon22:c.T2615A:p.I872N;ENSG00000166377:ENST00000590477:exon2:c.T170A:p.I57N;ENSG00000166377:ENST00000543761:exon6:c.T578A:p.I193N;	0.453811007449025	0.638
18	77105570	T	C	18	79345570	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.T2615C:p.I872T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.T2615C:p.I872T;ENSG00000166377:ENST00000426216:exon22:c.T2615C:p.I872T;ENSG00000166377:ENST00000590477:exon2:c.T170C:p.I57T;ENSG00000166377:ENST00000543761:exon6:c.T578C:p.I193T;	0.409016523949432	0.51
18	77105570	T	G	18	79345570	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.T2615G:p.I872S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.T2615G:p.I872S;ENSG00000166377:ENST00000426216:exon22:c.T2615G:p.I872S;ENSG00000166377:ENST00000590477:exon2:c.T170G:p.I57S;ENSG00000166377:ENST00000543761:exon6:c.T578G:p.I193S;	0.564665504966716	0.67
18	77105571	C	A	18	79345571	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon22:c.C2616A:p.I872I;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.C2616A:p.I872I;ENSG00000166377:ENST00000426216:exon22:c.C2616A:p.I872I;ENSG00000166377:ENST00000590477:exon2:c.C171A:p.I57I;ENSG00000166377:ENST00000543761:exon6:c.C579A:p.I193I;	5.38229161910529E-4	0.094
18	77105571	C	G	18	79345571	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.C2616G:p.I872M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.C2616G:p.I872M;ENSG00000166377:ENST00000426216:exon22:c.C2616G:p.I872M;ENSG00000166377:ENST00000590477:exon2:c.C171G:p.I57M;ENSG00000166377:ENST00000543761:exon6:c.C579G:p.I193M;	0.00202393987660906	0.234
18	77105571	C	T	18	79345571	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon22:c.C2616T:p.I872I;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.C2616T:p.I872I;ENSG00000166377:ENST00000426216:exon22:c.C2616T:p.I872I;ENSG00000166377:ENST00000590477:exon2:c.C171T:p.I57I;ENSG00000166377:ENST00000543761:exon6:c.C579T:p.I193I;	0.00492825574046493	0.056
18	77105572	G	A	18	79345572	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.G2617A:p.G873S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.G2617A:p.G873S;ENSG00000166377:ENST00000426216:exon22:c.G2617A:p.G873S;ENSG00000166377:ENST00000590477:exon2:c.G172A:p.G58S;ENSG00000166377:ENST00000543761:exon6:c.G580A:p.G194S;	0.999990388543211	0.994
18	77105572	G	C	18	79345572	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.G2617C:p.G873R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.G2617C:p.G873R;ENSG00000166377:ENST00000426216:exon22:c.G2617C:p.G873R;ENSG00000166377:ENST00000590477:exon2:c.G172C:p.G58R;ENSG00000166377:ENST00000543761:exon6:c.G580C:p.G194R;	0.999989383725594	1.0
18	77105572	G	T	18	79345572	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon22:c.G2617T:p.G873C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon22:c.G2617T:p.G873C;ENSG00000166377:ENST00000426216:exon22:c.G2617T:p.G873C;ENSG00000166377:ENST00000590477:exon2:c.G172T:p.G58C;ENSG00000166377:ENST00000543761:exon6:c.G580T:p.G194C;	0.999974599500407	0.984
18	77105573	G	A	18	79345573	y	y	splicing	ATP9B(NM_198531:exon22:c.2617+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2617+1G>A;ENST00000307671:exon22:c.2617+1G>A;ENST00000543761:exon6:c.580+1G>A;ENST00000590477:exon2:c.172+1G>A)	.	.	0.999981760802075	0.938
18	77105573	G	C	18	79345573	y	y	splicing	ATP9B(NM_198531:exon22:c.2617+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2617+1G>C;ENST00000307671:exon22:c.2617+1G>C;ENST00000543761:exon6:c.580+1G>C;ENST00000590477:exon2:c.172+1G>C)	.	.	0.999981760802075	0.938
18	77105573	G	T	18	79345573	y	y	splicing	ATP9B(NM_198531:exon22:c.2617+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2617+1G>T;ENST00000307671:exon22:c.2617+1G>T;ENST00000543761:exon6:c.580+1G>T;ENST00000590477:exon2:c.172+1G>T)	.	.	0.999981760802075	0.938
18	77105574	T	A	18	79345574	y	y	splicing	ATP9B(NM_198531:exon22:c.2617+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2617+2T>A;ENST00000307671:exon22:c.2617+2T>A;ENST00000543761:exon6:c.580+2T>A;ENST00000590477:exon2:c.172+2T>A)	.	.	0.999989917668626	0.926
18	77105574	T	C	18	79345574	y	y	splicing	ATP9B(NM_198531:exon22:c.2617+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2617+2T>C;ENST00000307671:exon22:c.2617+2T>C;ENST00000543761:exon6:c.580+2T>C;ENST00000590477:exon2:c.172+2T>C)	.	.	0.99999293839604	0.932
18	77105574	T	G	18	79345574	y	y	splicing	ATP9B(NM_198531:exon22:c.2617+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon22:c.2617+2T>G;ENST00000307671:exon22:c.2617+2T>G;ENST00000543761:exon6:c.580+2T>G;ENST00000590477:exon2:c.172+2T>G)	.	.	0.999989917668626	0.926
18	77105575	G	A	18	79345575	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.26103705194619E-4	0.006
18	77105575	G	C	18	79345575	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.986935069414536	0.762
18	77105575	G	T	18	79345575	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.996846404789828	0.712
18	77105576	A	C	18	79345576	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999009861335041	0.92
18	77105576	A	G	18	79345576	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.993355892026621	0.908
18	77105576	A	T	18	79345576	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999472914563999	0.938
18	77105577	G	A	18	79345577	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999944679224232	0.99
18	77105577	G	C	18	79345577	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999981139120646	0.978
18	77105577	G	T	18	79345577	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999975592839009	0.986
18	77105578	A	C	18	79345578	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.39047095572864E-5	0.012
18	77105578	A	G	18	79345578	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.7783946589441E-5	0.002
18	77105578	A	T	18	79345578	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.15752302574888E-5	0.042
18	77105579	G	A	18	79345579	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.21598370837371E-5	0.004
18	77105579	G	C	18	79345579	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.54889233350155E-6	0.002
18	77105579	G	T	18	79345579	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.80962407495189E-6	0.006
18	77105580	C	A	18	79345580	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.60690255509411E-4	0.038
18	77105580	C	G	18	79345580	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.210499652053E-5	0.004
18	77105580	C	T	18	79345580	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.58854973768093E-4	0.018
18	77105763	C	A	18	79345763	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.7103302627538E-5	0.042
18	77105763	C	G	18	79345763	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.17580291096437E-5	0.012
18	77105763	C	T	18	79345763	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.94777979037645E-5	0.026
18	77105764	T	A	18	79345764	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.85297208164687E-4	0.046
18	77105764	T	C	18	79345764	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.69676114362919E-5	0.022
18	77105764	T	G	18	79345764	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.87901584538574E-4	0.084
18	77105765	T	A	18	79345765	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999731950513349	0.984
18	77105765	T	C	18	79345765	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.434464526197E-4	0.002
18	77105765	T	G	18	79345765	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00347131551857859	0.14
18	77105766	G	A	18	79345766	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.04511093030145E-5	0.002
18	77105766	G	C	18	79345766	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.89722541887827E-5	0.0
18	77105766	G	T	18	79345766	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.96932434907821E-5	0.0
18	77105767	C	A	18	79345767	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.61576904054332E-4	0.07
18	77105767	C	G	18	79345767	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.05249804754276E-4	0.064
18	77105767	C	T	18	79345767	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.52020905942243E-5	0.008
18	77105768	T	A	18	79345768	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.33249319065741E-4	0.1
18	77105768	T	C	18	79345768	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.98294599034599E-5	0.0
18	77105768	T	G	18	79345768	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00110026079153433	0.068
18	77105769	T	A	18	79345769	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00120047006843616	0.098
18	77105769	T	C	18	79345769	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.99742344202675E-5	0.002
18	77105769	T	G	18	79345769	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.85578442623566E-4	0.122
18	77105770	C	A	18	79345770	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.925318016368954	0.714
18	77105770	C	G	18	79345770	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.52195518107844E-4	0.012
18	77105770	C	T	18	79345770	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.55955572115086E-5	0.0
18	77105771	G	A	18	79345771	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.13563868516938E-5	0.0
18	77105771	G	C	18	79345771	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.58297803320311E-5	0.004
18	77105771	G	T	18	79345771	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.69629681427475E-5	0.004
18	77105772	C	A	18	79345772	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.150641857211972	0.348
18	77105772	C	G	18	79345772	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999817526533224	0.926
18	77105772	C	T	18	79345772	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0036373856068245	0.174
18	77105773	A	C	18	79345773	y	y	splicing	ATP9B(NM_198531:exon23:c.2618-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2618-2A>C;ENST00000307671:exon23:c.2618-2A>C;ENST00000543761:exon7:c.581-2A>C;ENST00000590477:exon3:c.173-2A>C)	.	.	0.999966203349492	0.94
18	77105773	A	G	18	79345773	y	y	splicing	ATP9B(NM_198531:exon23:c.2618-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2618-2A>G;ENST00000307671:exon23:c.2618-2A>G;ENST00000543761:exon7:c.581-2A>G;ENST00000590477:exon3:c.173-2A>G)	.	.	0.999966203349492	0.94
18	77105773	A	T	18	79345773	y	y	splicing	ATP9B(NM_198531:exon23:c.2618-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2618-2A>T;ENST00000307671:exon23:c.2618-2A>T;ENST00000543761:exon7:c.581-2A>T;ENST00000590477:exon3:c.173-2A>T)	.	.	0.999966203349492	0.936
18	77105774	G	A	18	79345774	y	y	splicing	ATP9B(NM_198531:exon23:c.2618-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2618-1G>A;ENST00000307671:exon23:c.2618-1G>A;ENST00000543761:exon7:c.581-1G>A;ENST00000590477:exon3:c.173-1G>A)	.	.	0.999967335026411	0.936
18	77105774	G	C	18	79345774	y	y	splicing	ATP9B(NM_198531:exon23:c.2618-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2618-1G>C;ENST00000307671:exon23:c.2618-1G>C;ENST00000543761:exon7:c.581-1G>C;ENST00000590477:exon3:c.173-1G>C)	.	.	0.999915710762489	0.938
18	77105774	G	T	18	79345774	y	y	splicing	ATP9B(NM_198531:exon23:c.2618-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2618-1G>T;ENST00000307671:exon23:c.2618-1G>T;ENST00000543761:exon7:c.581-1G>T;ENST00000590477:exon3:c.173-1G>T)	.	.	0.999915710762489	0.936
18	77105775	G	A	18	79345775	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.G2618A:p.G873D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.G2618A:p.G873D;ENSG00000166377:ENST00000426216:exon23:c.G2618A:p.G873D;ENSG00000166377:ENST00000590477:exon3:c.G173A:p.G58D;ENSG00000166377:ENST00000543761:exon7:c.G581A:p.G194D;	0.992191809407825	0.812
18	77105775	G	C	18	79345775	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.G2618C:p.G873A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.G2618C:p.G873A;ENSG00000166377:ENST00000426216:exon23:c.G2618C:p.G873A;ENSG00000166377:ENST00000590477:exon3:c.G173C:p.G58A;ENSG00000166377:ENST00000543761:exon7:c.G581C:p.G194A;	0.998895394973387	0.924
18	77105775	G	T	18	79345775	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.G2618T:p.G873V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.G2618T:p.G873V;ENSG00000166377:ENST00000426216:exon23:c.G2618T:p.G873V;ENSG00000166377:ENST00000590477:exon3:c.G173T:p.G58V;ENSG00000166377:ENST00000543761:exon7:c.G581T:p.G194V;	0.999494115883716	0.978
18	77105776	T	A	18	79345776	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon23:c.T2619A:p.G873G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.T2619A:p.G873G;ENSG00000166377:ENST00000426216:exon23:c.T2619A:p.G873G;ENSG00000166377:ENST00000590477:exon3:c.T174A:p.G58G;ENSG00000166377:ENST00000543761:exon7:c.T582A:p.G194G;	3.3836692019739E-4	0.002
18	77105776	T	C	18	79345776	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon23:c.T2619C:p.G873G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.T2619C:p.G873G;ENSG00000166377:ENST00000426216:exon23:c.T2619C:p.G873G;ENSG00000166377:ENST00000590477:exon3:c.T174C:p.G58G;ENSG00000166377:ENST00000543761:exon7:c.T582C:p.G194G;	9.28106394811229E-5	0.006
18	77105776	T	G	18	79345776	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon23:c.T2619G:p.G873G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.T2619G:p.G873G;ENSG00000166377:ENST00000426216:exon23:c.T2619G:p.G873G;ENSG00000166377:ENST00000590477:exon3:c.T174G:p.G58G;ENSG00000166377:ENST00000543761:exon7:c.T582G:p.G194G;	2.57038825082242E-4	0.0
18	77105837	A	C	18	79345837	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.A2680C:p.K894Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.A2680C:p.K894Q;ENSG00000166377:ENST00000426216:exon23:c.A2680C:p.K894Q;ENSG00000166377:ENST00000590477:exon3:c.A235C:p.K79Q;ENSG00000166377:ENST00000543761:exon7:c.A643C:p.K215Q;	0.437034675649644	0.606
18	77105837	A	G	18	79345837	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.A2680G:p.K894E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.A2680G:p.K894E;ENSG00000166377:ENST00000426216:exon23:c.A2680G:p.K894E;ENSG00000166377:ENST00000590477:exon3:c.A235G:p.K79E;ENSG00000166377:ENST00000543761:exon7:c.A643G:p.K215E;	0.0349854141704807	0.394
18	77105837	A	T	18	79345837	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon23:c.A2680T:p.K894X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon23:c.A2680T:p.K894X;ENSG00000166377:ENST00000426216:exon23:c.A2680T:p.K894X;ENSG00000166377:ENST00000590477:exon3:c.A235T:p.K79X;ENSG00000166377:ENST00000543761:exon7:c.A643T:p.K215X;	0.946224839772197	0.674
18	77105838	A	C	18	79345838	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.A2681C:p.K894T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.A2681C:p.K894T;ENSG00000166377:ENST00000426216:exon23:c.A2681C:p.K894T;ENSG00000166377:ENST00000590477:exon3:c.A236C:p.K79T;ENSG00000166377:ENST00000543761:exon7:c.A644C:p.K215T;	0.984022584588618	0.946
18	77105838	A	G	18	79345838	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.A2681G:p.K894R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.A2681G:p.K894R;ENSG00000166377:ENST00000426216:exon23:c.A2681G:p.K894R;ENSG00000166377:ENST00000590477:exon3:c.A236G:p.K79R;ENSG00000166377:ENST00000543761:exon7:c.A644G:p.K215R;	0.998226657598317	0.966
18	77105838	A	T	18	79345838	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.A2681T:p.K894M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.A2681T:p.K894M;ENSG00000166377:ENST00000426216:exon23:c.A2681T:p.K894M;ENSG00000166377:ENST00000590477:exon3:c.A236T:p.K79M;ENSG00000166377:ENST00000543761:exon7:c.A644T:p.K215M;	0.999161826638079	0.97
18	77105839	G	A	18	79345839	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon23:c.G2682A:p.K894K;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.G2682A:p.K894K;ENSG00000166377:ENST00000426216:exon23:c.G2682A:p.K894K;ENSG00000166377:ENST00000590477:exon3:c.G237A:p.K79K;ENSG00000166377:ENST00000543761:exon7:c.G645A:p.K215K;	0.9957967439066	0.968
18	77105839	G	C	18	79345839	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.G2682C:p.K894N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.G2682C:p.K894N;ENSG00000166377:ENST00000426216:exon23:c.G2682C:p.K894N;ENSG00000166377:ENST00000590477:exon3:c.G237C:p.K79N;ENSG00000166377:ENST00000543761:exon7:c.G645C:p.K215N;	0.999798132755574	0.974
18	77105839	G	T	18	79345839	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon23:c.G2682T:p.K894N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon23:c.G2682T:p.K894N;ENSG00000166377:ENST00000426216:exon23:c.G2682T:p.K894N;ENSG00000166377:ENST00000590477:exon3:c.G237T:p.K79N;ENSG00000166377:ENST00000543761:exon7:c.G645T:p.K215N;	0.999787418299813	0.99
18	77105840	G	A	18	79345840	y	y	splicing	ATP9B(NM_198531:exon23:c.2682+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2682+1G>A;ENST00000307671:exon23:c.2682+1G>A;ENST00000543761:exon7:c.645+1G>A;ENST00000590477:exon3:c.237+1G>A)	.	.	0.999981760802075	0.938
18	77105840	G	C	18	79345840	y	y	splicing	ATP9B(NM_198531:exon23:c.2682+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2682+1G>C;ENST00000307671:exon23:c.2682+1G>C;ENST00000543761:exon7:c.645+1G>C;ENST00000590477:exon3:c.237+1G>C)	.	.	0.999981760802075	0.938
18	77105840	G	T	18	79345840	y	y	splicing	ATP9B(NM_198531:exon23:c.2682+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2682+1G>T;ENST00000307671:exon23:c.2682+1G>T;ENST00000543761:exon7:c.645+1G>T;ENST00000590477:exon3:c.237+1G>T)	.	.	0.999981760802075	0.938
18	77105841	T	A	18	79345841	y	y	splicing	ATP9B(NM_198531:exon23:c.2682+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2682+2T>A;ENST00000307671:exon23:c.2682+2T>A;ENST00000543761:exon7:c.645+2T>A;ENST00000590477:exon3:c.237+2T>A)	.	.	0.999992752818502	0.926
18	77105841	T	C	18	79345841	y	y	splicing	ATP9B(NM_198531:exon23:c.2682+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2682+2T>C;ENST00000307671:exon23:c.2682+2T>C;ENST00000543761:exon7:c.645+2T>C;ENST00000590477:exon3:c.237+2T>C)	.	.	0.985690088091059	0.624
18	77105841	T	G	18	79345841	y	y	splicing	ATP9B(NM_198531:exon23:c.2682+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon23:c.2682+2T>G;ENST00000307671:exon23:c.2682+2T>G;ENST00000543761:exon7:c.645+2T>G;ENST00000590477:exon3:c.237+2T>G)	.	.	0.999992752818502	0.926
18	77105842	A	C	18	79345842	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.524059112092388	0.438
18	77105842	A	G	18	79345842	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0199061281177282	0.194
18	77105842	A	T	18	79345842	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.174652211422049	0.408
18	77105843	G	A	18	79345843	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.01328121518371E-4	0.026
18	77105843	G	C	18	79345843	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.98641416251062E-5	0.008
18	77105843	G	T	18	79345843	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.5144691947326E-5	0.008
18	77105844	G	A	18	79345844	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.396724264004062	0.4
18	77105844	G	C	18	79345844	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.925536699985647	0.61
18	77105844	G	T	18	79345844	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.954517316397149	0.626
18	77105845	T	A	18	79345845	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00663468080095587	0.234
18	77105845	T	C	18	79345845	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0157291268343022	0.284
18	77105845	T	G	18	79345845	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00347751622025525	0.25
18	77105846	T	A	18	79345846	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.65855797425768E-5	0.0
18	77105846	T	C	18	79345846	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.07374351621511E-5	0.0
18	77105846	T	G	18	79345846	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.4435932074031E-5	0.012
18	77105847	C	A	18	79345847	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.65838372334217E-5	0.0
18	77105847	C	G	18	79345847	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.20700447125729E-5	0.0
18	77105847	C	T	18	79345847	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.65838372334217E-5	0.0
18	77107758	C	A	18	79347758	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.84906073859422E-5	0.022
18	77107758	C	G	18	79347758	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.75355771784482E-5	0.02
18	77107758	C	T	18	79347758	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.13769771353931E-5	0.0
18	77107759	T	A	18	79347759	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.9540634810475E-4	0.172
18	77107759	T	C	18	79347759	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.7737631239653E-4	0.072
18	77107759	T	G	18	79347759	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.86426539100629E-4	0.202
18	77107760	T	A	18	79347760	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.19870038103276E-4	0.042
18	77107760	T	C	18	79347760	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.50948072113993E-5	0.006
18	77107760	T	G	18	79347760	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.27180479517283E-4	0.026
18	77107761	T	A	18	79347761	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.58261987474566E-5	0.016
18	77107761	T	C	18	79347761	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.15122831006212E-5	0.0
18	77107761	T	G	18	79347761	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.06428407992767E-5	0.036
18	77107762	T	A	18	79347762	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.36639054658337E-5	0.014
18	77107762	T	C	18	79347762	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.38971766943587E-5	0.0
18	77107762	T	G	18	79347762	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.37715081804514E-5	0.016
18	77107763	C	A	18	79347763	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.62294103562357E-5	0.156
18	77107763	C	G	18	79347763	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.0085312221249E-5	0.028
18	77107763	C	T	18	79347763	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.02440580722778E-5	0.014
18	77107764	T	A	18	79347764	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.67717260240846E-4	0.074
18	77107764	T	C	18	79347764	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.96425198539992E-5	0.0
18	77107764	T	G	18	79347764	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.73311147460771E-4	0.086
18	77107765	C	A	18	79347765	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.30987305243015E-4	0.014
18	77107765	C	G	18	79347765	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.30469413108037E-4	0.008
18	77107765	C	T	18	79347765	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.37394425662901E-5	0.0
18	77107766	T	A	18	79347766	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.55828174658314E-5	0.01
18	77107766	T	C	18	79347766	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.85686867835615E-6	0.004
18	77107766	T	G	18	79347766	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.19822330078184E-5	0.008
18	77107767	C	A	18	79347767	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.720441668928752	0.49
18	77107767	C	G	18	79347767	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999834238658042	0.932
18	77107767	C	T	18	79347767	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.84358986552219E-4	0.02
18	77107768	A	C	18	79347768	y	y	splicing	ATP9B(NM_198531:exon24:c.2683-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2683-2A>C;ENST00000307671:exon24:c.2683-2A>C;ENST00000543761:exon8:c.646-2A>C;ENST00000590477:exon4:c.238-2A>C)	.	.	0.99997739437695	0.912
18	77107768	A	G	18	79347768	y	y	splicing	ATP9B(NM_198531:exon24:c.2683-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2683-2A>G;ENST00000307671:exon24:c.2683-2A>G;ENST00000543761:exon8:c.646-2A>G;ENST00000590477:exon4:c.238-2A>G)	.	.	0.999970104448312	0.91
18	77107768	A	T	18	79347768	y	y	splicing	ATP9B(NM_198531:exon24:c.2683-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2683-2A>T;ENST00000307671:exon24:c.2683-2A>T;ENST00000543761:exon8:c.646-2A>T;ENST00000590477:exon4:c.238-2A>T)	.	.	0.999978156327223	0.932
18	77107769	G	A	18	79347769	y	y	splicing	ATP9B(NM_198531:exon24:c.2683-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2683-1G>A;ENST00000307671:exon24:c.2683-1G>A;ENST00000543761:exon8:c.646-1G>A;ENST00000590477:exon4:c.238-1G>A)	.	.	0.999916487880886	0.952
18	77107769	G	C	18	79347769	y	y	splicing	ATP9B(NM_198531:exon24:c.2683-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2683-1G>C;ENST00000307671:exon24:c.2683-1G>C;ENST00000543761:exon8:c.646-1G>C;ENST00000590477:exon4:c.238-1G>C)	.	.	0.999945520654368	0.944
18	77107769	G	T	18	79347769	y	y	splicing	ATP9B(NM_198531:exon24:c.2683-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2683-1G>T;ENST00000307671:exon24:c.2683-1G>T;ENST00000543761:exon8:c.646-1G>T;ENST00000590477:exon4:c.238-1G>T)	.	.	0.999916487880886	0.946
18	77107770	G	A	18	79347770	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.G2683A:p.E895K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.G2683A:p.E895K;ENSG00000166377:ENST00000426216:exon24:c.G2683A:p.E895K;ENSG00000166377:ENST00000590477:exon4:c.G238A:p.E80K;ENSG00000166377:ENST00000543761:exon8:c.G646A:p.E216K;	0.9909582812808	0.886
18	77107770	G	C	18	79347770	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.G2683C:p.E895Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.G2683C:p.E895Q;ENSG00000166377:ENST00000426216:exon24:c.G2683C:p.E895Q;ENSG00000166377:ENST00000590477:exon4:c.G238C:p.E80Q;ENSG00000166377:ENST00000543761:exon8:c.G646C:p.E216Q;	0.999317008276056	0.952
18	77107770	G	T	18	79347770	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon24:c.G2683T:p.E895X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon24:c.G2683T:p.E895X;ENSG00000166377:ENST00000426216:exon24:c.G2683T:p.E895X;ENSG00000166377:ENST00000590477:exon4:c.G238T:p.E80X;ENSG00000166377:ENST00000543761:exon8:c.G646T:p.E216X;	0.998751909596004	0.952
18	77107771	A	C	18	79347771	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.A2684C:p.E895A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.A2684C:p.E895A;ENSG00000166377:ENST00000426216:exon24:c.A2684C:p.E895A;ENSG00000166377:ENST00000590477:exon4:c.A239C:p.E80A;ENSG00000166377:ENST00000543761:exon8:c.A647C:p.E216A;	0.801618124198096	0.776
18	77107771	A	G	18	79347771	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.A2684G:p.E895G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.A2684G:p.E895G;ENSG00000166377:ENST00000426216:exon24:c.A2684G:p.E895G;ENSG00000166377:ENST00000590477:exon4:c.A239G:p.E80G;ENSG00000166377:ENST00000543761:exon8:c.A647G:p.E216G;	0.517769674693633	0.552
18	77107771	A	T	18	79347771	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.A2684T:p.E895V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.A2684T:p.E895V;ENSG00000166377:ENST00000426216:exon24:c.A2684T:p.E895V;ENSG00000166377:ENST00000590477:exon4:c.A239T:p.E80V;ENSG00000166377:ENST00000543761:exon8:c.A647T:p.E216V;	0.546056991485936	0.746
18	77107923	C	A	18	79347923	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.C2836A:p.Q946K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.C2836A:p.Q946K;ENSG00000166377:ENST00000426216:exon24:c.C2836A:p.Q946K;ENSG00000166377:ENST00000590477:exon4:c.C391A:p.Q131K;ENSG00000166377:ENST00000543761:exon8:c.C799A:p.Q267K;	0.65197479943126	0.752
18	77107923	C	G	18	79347923	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.C2836G:p.Q946E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.C2836G:p.Q946E;ENSG00000166377:ENST00000426216:exon24:c.C2836G:p.Q946E;ENSG00000166377:ENST00000590477:exon4:c.C391G:p.Q131E;ENSG00000166377:ENST00000543761:exon8:c.C799G:p.Q267E;	0.85027448375273	0.676
18	77107923	C	T	18	79347923	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon24:c.C2836T:p.Q946X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon24:c.C2836T:p.Q946X;ENSG00000166377:ENST00000426216:exon24:c.C2836T:p.Q946X;ENSG00000166377:ENST00000590477:exon4:c.C391T:p.Q131X;ENSG00000166377:ENST00000543761:exon8:c.C799T:p.Q267X;	0.999808449557592	0.97
18	77107924	A	C	18	79347924	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.A2837C:p.Q946P;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.A2837C:p.Q946P;ENSG00000166377:ENST00000426216:exon24:c.A2837C:p.Q946P;ENSG00000166377:ENST00000590477:exon4:c.A392C:p.Q131P;ENSG00000166377:ENST00000543761:exon8:c.A800C:p.Q267P;	0.999904844423613	1.0
18	77107924	A	G	18	79347924	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.A2837G:p.Q946R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.A2837G:p.Q946R;ENSG00000166377:ENST00000426216:exon24:c.A2837G:p.Q946R;ENSG00000166377:ENST00000590477:exon4:c.A392G:p.Q131R;ENSG00000166377:ENST00000543761:exon8:c.A800G:p.Q267R;	0.999905208944014	0.994
18	77107924	A	T	18	79347924	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.A2837T:p.Q946L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.A2837T:p.Q946L;ENSG00000166377:ENST00000426216:exon24:c.A2837T:p.Q946L;ENSG00000166377:ENST00000590477:exon4:c.A392T:p.Q131L;ENSG00000166377:ENST00000543761:exon8:c.A800T:p.Q267L;	0.999959449895903	0.992
18	77107925	G	A	18	79347925	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon24:c.G2838A:p.Q946Q;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.G2838A:p.Q946Q;ENSG00000166377:ENST00000426216:exon24:c.G2838A:p.Q946Q;ENSG00000166377:ENST00000590477:exon4:c.G393A:p.Q131Q;ENSG00000166377:ENST00000543761:exon8:c.G801A:p.Q267Q;	0.999976289587731	0.996
18	77107925	G	C	18	79347925	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.G2838C:p.Q946H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.G2838C:p.Q946H;ENSG00000166377:ENST00000426216:exon24:c.G2838C:p.Q946H;ENSG00000166377:ENST00000590477:exon4:c.G393C:p.Q131H;ENSG00000166377:ENST00000543761:exon8:c.G801C:p.Q267H;	0.999997627706868	1.0
18	77107925	G	T	18	79347925	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon24:c.G2838T:p.Q946H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon24:c.G2838T:p.Q946H;ENSG00000166377:ENST00000426216:exon24:c.G2838T:p.Q946H;ENSG00000166377:ENST00000590477:exon4:c.G393T:p.Q131H;ENSG00000166377:ENST00000543761:exon8:c.G801T:p.Q267H;	0.999993456460832	0.988
18	77107926	G	A	18	79347926	y	y	splicing	ATP9B(NM_198531:exon24:c.2838+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2838+1G>A;ENST00000307671:exon24:c.2838+1G>A;ENST00000543761:exon8:c.801+1G>A;ENST00000590477:exon4:c.393+1G>A;ENST00000588921:exon1:c.19+1G>A)	.	.	0.999981760802075	0.94
18	77107926	G	C	18	79347926	y	y	splicing	ATP9B(NM_198531:exon24:c.2838+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2838+1G>C;ENST00000307671:exon24:c.2838+1G>C;ENST00000543761:exon8:c.801+1G>C;ENST00000590477:exon4:c.393+1G>C;ENST00000588921:exon1:c.19+1G>C)	.	.	0.999981760802075	0.94
18	77107926	G	T	18	79347926	y	y	splicing	ATP9B(NM_198531:exon24:c.2838+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2838+1G>T;ENST00000307671:exon24:c.2838+1G>T;ENST00000543761:exon8:c.801+1G>T;ENST00000590477:exon4:c.393+1G>T;ENST00000588921:exon1:c.19+1G>T)	.	.	0.999981760802075	0.94
18	77107927	T	A	18	79347927	y	y	splicing	ATP9B(NM_198531:exon24:c.2838+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2838+2T>A;ENST00000307671:exon24:c.2838+2T>A;ENST00000543761:exon8:c.801+2T>A;ENST00000590477:exon4:c.393+2T>A;ENST00000588921:exon1:c.19+2T>A)	.	.	0.999989917668626	0.928
18	77107927	T	C	18	79347927	y	y	splicing	ATP9B(NM_198531:exon24:c.2838+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2838+2T>C;ENST00000307671:exon24:c.2838+2T>C;ENST00000543761:exon8:c.801+2T>C;ENST00000590477:exon4:c.393+2T>C;ENST00000588921:exon1:c.19+2T>C)	.	.	0.992323021482646	0.64
18	77107927	T	G	18	79347927	y	y	splicing	ATP9B(NM_198531:exon24:c.2838+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon24:c.2838+2T>G;ENST00000307671:exon24:c.2838+2T>G;ENST00000543761:exon8:c.801+2T>G;ENST00000590477:exon4:c.393+2T>G;ENST00000588921:exon1:c.19+2T>G)	.	.	0.999989917668626	0.928
18	77107928	A	C	18	79347928	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998534820560758	0.678
18	77107928	A	G	18	79347928	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.340785801185541	0.432
18	77107928	A	T	18	79347928	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997862303066025	0.61
18	77107929	C	A	18	79347929	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.05667375452624E-4	0.112
18	77107929	C	G	18	79347929	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.12340138197776E-4	0.048
18	77107929	C	T	18	79347929	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00103464804264841	0.058
18	77107930	T	A	18	79347930	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.41280102156286E-5	0.018
18	77107930	T	C	18	79347930	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.91871877432321E-6	0.002
18	77107930	T	G	18	79347930	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.41219503641414E-5	0.01
18	77107931	A	C	18	79347931	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.826095487212E-5	0.044
18	77107931	A	G	18	79347931	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.45141637154884E-6	0.004
18	77107931	A	T	18	79347931	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.38262058787561E-5	0.02
18	77107932	A	C	18	79347932	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.06405920169652E-5	0.0
18	77107932	A	G	18	79347932	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.06405920169652E-5	0.0
18	77107932	A	T	18	79347932	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.06405920169652E-5	0.0
18	77107933	G	A	18	79347933	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.31340513507375E-5	0.0
18	77107933	G	C	18	79347933	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.53929084429736E-6	0.0
18	77107933	G	T	18	79347933	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.81104709051921E-5	0.02
18	77108120	C	A	18	79348120	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.32018441863281E-4	0.066
18	77108120	C	G	18	79348120	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.51817551199132E-4	0.02
18	77108120	C	T	18	79348120	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.84596801838551E-5	0.0
18	77108121	T	A	18	79348121	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0434726171366823	0.152
18	77108121	T	C	18	79348121	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.24658542945669E-4	0.02
18	77108121	T	G	18	79348121	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0148986320412363	0.162
18	77108122	C	A	18	79348122	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0018794831556741	0.04
18	77108122	C	G	18	79348122	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.25621573209122E-4	0.028
18	77108122	C	T	18	79348122	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.08423594823225E-5	0.004
18	77108123	T	A	18	79348123	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.162808974353734	0.458
18	77108123	T	C	18	79348123	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00732827952227472	0.13
18	77108123	T	G	18	79348123	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0261757459145577	0.29
18	77108124	C	A	18	79348124	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00172253836549993	0.052
18	77108124	C	G	18	79348124	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00191218450358891	0.056
18	77108124	C	T	18	79348124	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.55135306620746E-4	0.018
18	77108125	T	A	18	79348125	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0270598387627373	0.254
18	77108125	T	C	18	79348125	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.37054759680664E-4	0.034
18	77108125	T	G	18	79348125	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0388521531680055	0.208
18	77108126	C	A	18	79348126	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.51980163917747E-4	0.11
18	77108126	C	G	18	79348126	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.9939080973282E-4	0.13
18	77108126	C	T	18	79348126	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.89863495678212E-4	0.004
18	77108127	T	A	18	79348127	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0115727025393799	0.308
18	77108127	T	C	18	79348127	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.15154765161152E-5	0.028
18	77108127	T	G	18	79348127	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00701589366001571	0.306
18	77108128	C	A	18	79348128	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.09126859929499E-5	0.0
18	77108128	C	G	18	79348128	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.2903660347448E-5	0.012
18	77108128	C	T	18	79348128	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.64719669459041E-5	0.0
18	77108129	C	A	18	79348129	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.818082191108547	0.506
18	77108129	C	G	18	79348129	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.993355363571567	0.78
18	77108129	C	T	18	79348129	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00203972822309099	0.146
18	77108130	A	C	18	79348130	y	y	splicing	ATP9B(NM_198531:exon25:c.2839-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2839-2A>C;ENST00000307671:exon25:c.2839-2A>C;ENST00000543761:exon9:c.802-2A>C;ENST00000588921:exon2:c.20-2A>C)	.	.	0.999945652454398	0.924
18	77108130	A	G	18	79348130	y	y	splicing	ATP9B(NM_198531:exon25:c.2839-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2839-2A>G;ENST00000307671:exon25:c.2839-2A>G;ENST00000543761:exon9:c.802-2A>G;ENST00000588921:exon2:c.20-2A>G)	.	.	0.999945652454398	0.924
18	77108130	A	T	18	79348130	y	y	splicing	ATP9B(NM_198531:exon25:c.2839-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2839-2A>T;ENST00000307671:exon25:c.2839-2A>T;ENST00000543761:exon9:c.802-2A>T;ENST00000588921:exon2:c.20-2A>T)	.	.	0.999955521744805	0.924
18	77108131	G	A	18	79348131	y	y	splicing	ATP9B(NM_198531:exon25:c.2839-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2839-1G>A;ENST00000307671:exon25:c.2839-1G>A;ENST00000543761:exon9:c.802-1G>A;ENST00000588921:exon2:c.20-1G>A)	.	.	0.999967335026411	0.93
18	77108131	G	C	18	79348131	y	y	splicing	ATP9B(NM_198531:exon25:c.2839-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2839-1G>C;ENST00000307671:exon25:c.2839-1G>C;ENST00000543761:exon9:c.802-1G>C;ENST00000588921:exon2:c.20-1G>C)	.	.	0.999967335026411	0.928
18	77108131	G	T	18	79348131	y	y	splicing	ATP9B(NM_198531:exon25:c.2839-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2839-1G>T;ENST00000307671:exon25:c.2839-1G>T;ENST00000543761:exon9:c.802-1G>T;ENST00000588921:exon2:c.20-1G>T)	.	.	0.999967335026411	0.93
18	77108132	G	A	18	79348132	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2839A:p.A947T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2839A:p.A947T;ENSG00000166377:ENST00000426216:exon25:c.G2839A:p.A947T;ENSG00000166377:ENST00000543761:exon9:c.G802A:p.A268T;	0.669332410603581	0.396
18	77108132	G	C	18	79348132	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2839C:p.A947P;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2839C:p.A947P;ENSG00000166377:ENST00000426216:exon25:c.G2839C:p.A947P;ENSG00000166377:ENST00000543761:exon9:c.G802C:p.A268P;	0.978591261870386	0.85
18	77108132	G	T	18	79348132	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2839T:p.A947S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2839T:p.A947S;ENSG00000166377:ENST00000426216:exon25:c.G2839T:p.A947S;ENSG00000166377:ENST00000543761:exon9:c.G802T:p.A268S;	0.994764722192251	0.874
18	77108133	C	A	18	79348133	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.C2840A:p.A947D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.C2840A:p.A947D;ENSG00000166377:ENST00000426216:exon25:c.C2840A:p.A947D;ENSG00000166377:ENST00000543761:exon9:c.C803A:p.A268D;	0.968253038137019	0.898
18	77108133	C	G	18	79348133	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.C2840G:p.A947G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.C2840G:p.A947G;ENSG00000166377:ENST00000426216:exon25:c.C2840G:p.A947G;ENSG00000166377:ENST00000543761:exon9:c.C803G:p.A268G;	0.895314419721439	0.734
18	77108133	C	T	18	79348133	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.C2840T:p.A947V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.C2840T:p.A947V;ENSG00000166377:ENST00000426216:exon25:c.C2840T:p.A947V;ENSG00000166377:ENST00000543761:exon9:c.C803T:p.A268V;	0.936977293193615	0.798
18	77108194	G	A	18	79348194	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon25:c.G2901A:p.V967V;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2901A:p.V967V;ENSG00000166377:ENST00000426216:exon25:c.G2901A:p.V967V;ENSG00000166377:ENST00000543761:exon9:c.G864A:p.V288V;	4.913727410457E-5	0.006
18	77108194	G	C	18	79348194	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon25:c.G2901C:p.V967V;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2901C:p.V967V;ENSG00000166377:ENST00000426216:exon25:c.G2901C:p.V967V;ENSG00000166377:ENST00000543761:exon9:c.G864C:p.V288V;	9.17720767176842E-5	0.006
18	77108194	G	T	18	79348194	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon25:c.G2901T:p.V967V;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2901T:p.V967V;ENSG00000166377:ENST00000426216:exon25:c.G2901T:p.V967V;ENSG00000166377:ENST00000543761:exon9:c.G864T:p.V288V;	9.00113382166776E-5	0.016
18	77108195	G	A	18	79348195	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2902A:p.G968R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2902A:p.G968R;ENSG00000166377:ENST00000426216:exon25:c.G2902A:p.G968R;ENSG00000166377:ENST00000543761:exon9:c.G865A:p.G289R;	0.800401508108273	0.644
18	77108195	G	C	18	79348195	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2902C:p.G968R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2902C:p.G968R;ENSG00000166377:ENST00000426216:exon25:c.G2902C:p.G968R;ENSG00000166377:ENST00000543761:exon9:c.G865C:p.G289R;	0.945694987642074	0.878
18	77108195	G	T	18	79348195	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2902T:p.G968W;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2902T:p.G968W;ENSG00000166377:ENST00000426216:exon25:c.G2902T:p.G968W;ENSG00000166377:ENST00000543761:exon9:c.G865T:p.G289W;	0.967528145991515	0.832
18	77108196	G	A	18	79348196	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2903A:p.G968E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2903A:p.G968E;ENSG00000166377:ENST00000426216:exon25:c.G2903A:p.G968E;ENSG00000166377:ENST00000543761:exon9:c.G866A:p.G289E;	0.999689314479728	0.98
18	77108196	G	C	18	79348196	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2903C:p.G968A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2903C:p.G968A;ENSG00000166377:ENST00000426216:exon25:c.G2903C:p.G968A;ENSG00000166377:ENST00000543761:exon9:c.G866C:p.G289A;	0.999478175124066	0.964
18	77108196	G	T	18	79348196	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon25:c.G2903T:p.G968V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon25:c.G2903T:p.G968V;ENSG00000166377:ENST00000426216:exon25:c.G2903T:p.G968V;ENSG00000166377:ENST00000543761:exon9:c.G866T:p.G289V;	0.999590519393625	0.954
18	77108197	G	A	18	79348197	y	y	splicing	ATP9B(NM_198531:exon25:c.2903+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2903+1G>A;ENST00000307671:exon25:c.2903+1G>A;ENST00000543761:exon9:c.866+1G>A;ENST00000588921:exon2:c.84+1G>A)	.	.	0.999981760802075	0.94
18	77108197	G	C	18	79348197	y	y	splicing	ATP9B(NM_198531:exon25:c.2903+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2903+1G>C;ENST00000307671:exon25:c.2903+1G>C;ENST00000543761:exon9:c.866+1G>C;ENST00000588921:exon2:c.84+1G>C)	.	.	0.999981760802075	0.94
18	77108197	G	T	18	79348197	y	y	splicing	ATP9B(NM_198531:exon25:c.2903+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2903+1G>T;ENST00000307671:exon25:c.2903+1G>T;ENST00000543761:exon9:c.866+1G>T;ENST00000588921:exon2:c.84+1G>T)	.	.	0.999981760802075	0.94
18	77108198	T	A	18	79348198	y	y	splicing	ATP9B(NM_198531:exon25:c.2903+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2903+2T>A;ENST00000307671:exon25:c.2903+2T>A;ENST00000543761:exon9:c.866+2T>A;ENST00000588921:exon2:c.84+2T>A)	.	.	0.999986607513753	0.922
18	77108198	T	C	18	79348198	y	y	splicing	ATP9B(NM_198531:exon25:c.2903+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2903+2T>C;ENST00000307671:exon25:c.2903+2T>C;ENST00000543761:exon9:c.866+2T>C;ENST00000588921:exon2:c.84+2T>C)	.	.	0.984943611886664	0.576
18	77108198	T	G	18	79348198	y	y	splicing	ATP9B(NM_198531:exon25:c.2903+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon25:c.2903+2T>G;ENST00000307671:exon25:c.2903+2T>G;ENST00000543761:exon9:c.866+2T>G;ENST00000588921:exon2:c.84+2T>G)	.	.	0.999986607513753	0.924
18	77108199	A	C	18	79348199	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.822322294183969	0.568
18	77108199	A	G	18	79348199	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0165218981834415	0.144
18	77108199	A	T	18	79348199	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.943040670941794	0.586
18	77108200	A	C	18	79348200	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.532051694287308	0.368
18	77108200	A	G	18	79348200	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.815136969525232	0.61
18	77108200	A	T	18	79348200	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.439997685339432	0.452
18	77108201	G	A	18	79348201	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997604604841263	0.996
18	77108201	G	C	18	79348201	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.995008495174447	0.924
18	77108201	G	T	18	79348201	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999599014834204	0.928
18	77108202	T	A	18	79348202	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.974229481606407	0.694
18	77108202	T	C	18	79348202	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.804107283286112	0.648
18	77108202	T	G	18	79348202	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.958300918465464	0.596
18	77108203	T	A	18	79348203	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.07014835428848E-5	0.0
18	77108203	T	C	18	79348203	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.95815540499835E-5	0.0
18	77108203	T	G	18	79348203	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.95815540499835E-5	0.0
18	77108204	A	C	18	79348204	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.3427982531725E-5	0.002
18	77108204	A	G	18	79348204	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.07857265182219E-5	0.004
18	77108204	A	T	18	79348204	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.94788035754117E-5	0.006
18	77119342	T	A	18	79359342	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0507991501661311	0.318
18	77119342	T	C	18	79359342	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.14774132381591E-4	0.012
18	77119342	T	G	18	79359342	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0828956786023347	0.336
18	77119343	T	A	18	79359343	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.962165980541538	0.672
18	77119343	T	C	18	79359343	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.68738873036247E-4	0.036
18	77119343	T	G	18	79359343	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.011775340028995	0.22
18	77119344	G	A	18	79359344	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997826606948933	0.96
18	77119344	G	C	18	79359344	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.89938308996435E-4	0.054
18	77119344	G	T	18	79359344	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.23503492604438E-4	0.006
18	77119345	G	A	18	79359345	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.58778230336715E-5	0.002
18	77119345	G	C	18	79359345	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.2726283130427E-5	0.0
18	77119345	G	T	18	79359345	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.4988360059907E-5	0.01
18	77119346	T	A	18	79359346	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0308636596667203	0.118
18	77119346	T	C	18	79359346	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.93343284337317E-5	0.002
18	77119346	T	G	18	79359346	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0106167183075913	0.198
18	77119347	C	A	18	79359347	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.5108939413308E-4	0.028
18	77119347	C	G	18	79359347	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.15995523556474E-5	0.01
18	77119347	C	T	18	79359347	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.59263380380195E-5	0.0
18	77119348	T	A	18	79359348	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00662792267335517	0.096
18	77119348	T	C	18	79359348	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.07833760079113E-5	0.0
18	77119348	T	G	18	79359348	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0105177593731746	0.156
18	77119349	T	A	18	79359349	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.975383276458233	0.736
18	77119349	T	C	18	79359349	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.38355618526206E-5	0.0
18	77119349	T	G	18	79359349	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0668298736664009	0.222
18	77119350	G	A	18	79359350	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.57736679823038E-6	0.002
18	77119350	G	C	18	79359350	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.71491275653921E-5	0.004
18	77119350	G	T	18	79359350	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.06341561599038E-6	0.0
18	77119351	C	A	18	79359351	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.204866437233048	0.348
18	77119351	C	G	18	79359351	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.9900641589468	0.626
18	77119351	C	T	18	79359351	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.84373707903395E-4	0.01
18	77119352	A	C	18	79359352	y	y	splicing	ATP9B(NM_198531:exon26:c.2904-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.2904-2A>C;ENST00000307671:exon26:c.2904-2A>C;ENST00000543761:exon10:c.867-2A>C;ENST00000590477:exon5:c.394-2A>C;ENST00000588921:exon3:c.85-2A>C)	.	.	0.999970104448312	0.892
18	77119352	A	G	18	79359352	y	y	splicing	ATP9B(NM_198531:exon26:c.2904-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.2904-2A>G;ENST00000307671:exon26:c.2904-2A>G;ENST00000543761:exon10:c.867-2A>G;ENST00000590477:exon5:c.394-2A>G;ENST00000588921:exon3:c.85-2A>G)	.	.	0.999970104448312	0.892
18	77119352	A	T	18	79359352	y	y	splicing	ATP9B(NM_198531:exon26:c.2904-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.2904-2A>T;ENST00000307671:exon26:c.2904-2A>T;ENST00000543761:exon10:c.867-2A>T;ENST00000590477:exon5:c.394-2A>T;ENST00000588921:exon3:c.85-2A>T)	.	.	0.999978156327223	0.93
18	77119353	G	A	18	79359353	y	y	splicing	ATP9B(NM_198531:exon26:c.2904-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.2904-1G>A;ENST00000307671:exon26:c.2904-1G>A;ENST00000543761:exon10:c.867-1G>A;ENST00000590477:exon5:c.394-1G>A;ENST00000588921:exon3:c.85-1G>A)	.	.	0.999938990645747	0.95
18	77119353	G	C	18	79359353	y	y	splicing	ATP9B(NM_198531:exon26:c.2904-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.2904-1G>C;ENST00000307671:exon26:c.2904-1G>C;ENST00000543761:exon10:c.867-1G>C;ENST00000590477:exon5:c.394-1G>C;ENST00000588921:exon3:c.85-1G>C)	.	.	0.999938990645747	0.944
18	77119353	G	T	18	79359353	y	y	splicing	ATP9B(NM_198531:exon26:c.2904-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.2904-1G>T;ENST00000307671:exon26:c.2904-1G>T;ENST00000543761:exon10:c.867-1G>T;ENST00000590477:exon5:c.394-1G>T;ENST00000588921:exon3:c.85-1G>T)	.	.	0.999938990645747	0.936
18	77119354	G	A	18	79359354	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon26:c.G2904A:p.G968G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000590477:exon5:c.G394A:p.V132I;	0.00392035581164954	0.3
18	77119354	G	C	18	79359354	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon26:c.G2904C:p.G968G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000590477:exon5:c.G394C:p.V132L;	0.0442095880569585	0.474
18	77119354	G	T	18	79359354	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon26:c.G2904T:p.G968G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000590477:exon5:c.G394T:p.V132L;	0.623703378106489	0.518
18	77119355	T	A	18	79359355	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.T2905A:p.Y969N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.T2905A:p.Y969N;ENSG00000166377:ENST00000426216:exon26:c.T2905A:p.Y969N;ENSG00000166377:ENST00000590477:exon5:c.T395A:p.V132E;ENSG00000166377:ENST00000543761:exon10:c.T868A:p.Y290N;	0.109190921579075	0.36
18	77119355	T	C	18	79359355	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.T2905C:p.Y969H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.T2905C:p.Y969H;ENSG00000166377:ENST00000426216:exon26:c.T2905C:p.Y969H;ENSG00000166377:ENST00000590477:exon5:c.T395C:p.V132A;ENSG00000166377:ENST00000543761:exon10:c.T868C:p.Y290H;	0.114092726585404	0.344
18	77119355	T	G	18	79359355	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.T2905G:p.Y969D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.T2905G:p.Y969D;ENSG00000166377:ENST00000426216:exon26:c.T2905G:p.Y969D;ENSG00000166377:ENST00000590477:exon5:c.T395G:p.V132G;ENSG00000166377:ENST00000543761:exon10:c.T868G:p.Y290D;	0.0974113992532764	0.35
18	77119460	A	C	18	79359460	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.A3010C:p.K1004Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.A3010C:p.K1004Q;ENSG00000166377:ENST00000426216:exon26:c.A3010C:p.K1004Q;ENSG00000166377:ENST00000590477:exon5:c.A500C:p.Q167P;ENSG00000166377:ENST00000543761:exon10:c.A973C:p.K325Q;ENSG00000166377:ENST00000587919:exon1:c.A65C:p.Q22P;	0.583001962345015	0.63
18	77119460	A	G	18	79359460	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.A3010G:p.K1004E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.A3010G:p.K1004E;ENSG00000166377:ENST00000426216:exon26:c.A3010G:p.K1004E;ENSG00000166377:ENST00000590477:exon5:c.A500G:p.Q167R;ENSG00000166377:ENST00000543761:exon10:c.A973G:p.K325E;ENSG00000166377:ENST00000587919:exon1:c.A65G:p.Q22R;	0.106563963267734	0.43
18	77119460	A	T	18	79359460	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon26:c.A3010T:p.K1004X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon26:c.A3010T:p.K1004X;ENSG00000166377:ENST00000426216:exon26:c.A3010T:p.K1004X;ENSG00000166377:ENST00000543761:exon10:c.A973T:p.K325X;	0.93859400052402	0.734
18	77119461	A	C	18	79359461	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.A3011C:p.K1004T;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.A3011C:p.K1004T;ENSG00000166377:ENST00000426216:exon26:c.A3011C:p.K1004T;ENSG00000166377:ENST00000590477:exon5:c.A501C:p.Q167H;ENSG00000166377:ENST00000543761:exon10:c.A974C:p.K325T;ENSG00000166377:ENST00000587919:exon1:c.A66C:p.Q22H;	0.990628576726996	0.908
18	77119461	A	G	18	79359461	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.A3011G:p.K1004R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.A3011G:p.K1004R;ENSG00000166377:ENST00000426216:exon26:c.A3011G:p.K1004R;ENSG00000166377:ENST00000543761:exon10:c.A974G:p.K325R;	0.99728419968251	0.892
18	77119461	A	T	18	79359461	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.A3011T:p.K1004M;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.A3011T:p.K1004M;ENSG00000166377:ENST00000426216:exon26:c.A3011T:p.K1004M;ENSG00000166377:ENST00000590477:exon5:c.A501T:p.Q167H;ENSG00000166377:ENST00000543761:exon10:c.A974T:p.K325M;ENSG00000166377:ENST00000587919:exon1:c.A66T:p.Q22H;	0.997740436583375	0.922
18	77119462	G	A	18	79359462	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon26:c.G3012A:p.K1004K;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000590477:exon5:c.G502A:p.G168R;ENSG00000166377:ENST00000587919:exon1:c.G67A:p.V23I;	0.999874612615736	0.99
18	77119462	G	C	18	79359462	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.G3012C:p.K1004N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.G3012C:p.K1004N;ENSG00000166377:ENST00000426216:exon26:c.G3012C:p.K1004N;ENSG00000166377:ENST00000590477:exon5:c.G502C:p.G168R;ENSG00000166377:ENST00000543761:exon10:c.G975C:p.K325N;ENSG00000166377:ENST00000587919:exon1:c.G67C:p.V23L;	0.999996849704514	0.998
18	77119462	G	T	18	79359462	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon26:c.G3012T:p.K1004N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon26:c.G3012T:p.K1004N;ENSG00000166377:ENST00000426216:exon26:c.G3012T:p.K1004N;ENSG00000166377:ENST00000590477:exon5:c.G502T:p.G168W;ENSG00000166377:ENST00000543761:exon10:c.G975T:p.K325N;ENSG00000166377:ENST00000587919:exon1:c.G67T:p.V23F;	0.999974432081734	1.0
18	77119463	G	A	18	79359463	y	y	splicing	ATP9B(NM_198531:exon26:c.3012+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.3012+1G>A;ENST00000307671:exon26:c.3012+1G>A;ENST00000543761:exon10:c.975+1G>A;ENST00000590477:exon5:c.502+1G>A;ENST00000588921:exon3:c.193+1G>A;ENST00000587919:exon1:c.67+1G>A)	.	.	0.999986675681007	0.936
18	77119463	G	C	18	79359463	y	y	splicing	ATP9B(NM_198531:exon26:c.3012+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.3012+1G>C;ENST00000307671:exon26:c.3012+1G>C;ENST00000543761:exon10:c.975+1G>C;ENST00000590477:exon5:c.502+1G>C;ENST00000588921:exon3:c.193+1G>C;ENST00000587919:exon1:c.67+1G>C)	.	.	0.999986675681007	0.936
18	77119463	G	T	18	79359463	y	y	splicing	ATP9B(NM_198531:exon26:c.3012+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.3012+1G>T;ENST00000307671:exon26:c.3012+1G>T;ENST00000543761:exon10:c.975+1G>T;ENST00000590477:exon5:c.502+1G>T;ENST00000588921:exon3:c.193+1G>T;ENST00000587919:exon1:c.67+1G>T)	.	.	0.999986675681007	0.936
18	77119464	T	A	18	79359464	y	y	splicing	ATP9B(NM_198531:exon26:c.3012+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.3012+2T>A;ENST00000307671:exon26:c.3012+2T>A;ENST00000543761:exon10:c.975+2T>A;ENST00000590477:exon5:c.502+2T>A;ENST00000588921:exon3:c.193+2T>A;ENST00000587919:exon1:c.67+2T>A)	.	.	0.999989917668626	0.926
18	77119464	T	C	18	79359464	y	y	splicing	ATP9B(NM_198531:exon26:c.3012+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.3012+2T>C;ENST00000307671:exon26:c.3012+2T>C;ENST00000543761:exon10:c.975+2T>C;ENST00000590477:exon5:c.502+2T>C;ENST00000588921:exon3:c.193+2T>C;ENST00000587919:exon1:c.67+2T>C)	.	.	0.990945634311904	0.628
18	77119464	T	G	18	79359464	y	y	splicing	ATP9B(NM_198531:exon26:c.3012+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon26:c.3012+2T>G;ENST00000307671:exon26:c.3012+2T>G;ENST00000543761:exon10:c.975+2T>G;ENST00000590477:exon5:c.502+2T>G;ENST00000588921:exon3:c.193+2T>G;ENST00000587919:exon1:c.67+2T>G)	.	.	0.999989917668626	0.926
18	77119465	A	C	18	79359465	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.99381170036776	0.718
18	77119465	A	G	18	79359465	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0852674036751757	0.204
18	77119465	A	T	18	79359465	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.978546956662261	0.574
18	77119466	C	A	18	79359466	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.54160773213021E-5	0.018
18	77119466	C	G	18	79359466	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.71365150360596E-5	0.09
18	77119466	C	T	18	79359466	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.03529638502641E-5	0.104
18	77119467	G	A	18	79359467	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.671874196368201	0.57
18	77119467	G	C	18	79359467	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.841400698595465	0.616
18	77119467	G	T	18	79359467	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.80367585319263	0.606
18	77119468	G	A	18	79359468	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.02163956534691E-5	0.004
18	77119468	G	C	18	79359468	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.57663653304061E-5	0.002
18	77119468	G	T	18	79359468	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.46983891969364E-5	0.0
18	77119469	G	A	18	79359469	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.75538498902536E-5	0.004
18	77119469	G	C	18	79359469	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.75538498902536E-5	0.028
18	77119469	G	T	18	79359469	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.07016094304005E-4	0.0
18	77119470	C	A	18	79359470	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.05589214171578E-4	0.0
18	77119470	C	G	18	79359470	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.46043404931942E-4	0.0
18	77119470	C	T	18	79359470	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.14279843311403E-4	0.002
18	77121727	C	A	18	79361727	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.20590404879984E-5	0.0
18	77121727	C	G	18	79361727	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.20590404879984E-5	0.0
18	77121727	C	T	18	79361727	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.20590404879984E-5	0.0
18	77121728	C	A	18	79361728	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.05618998272211E-4	0.066
18	77121728	C	G	18	79361728	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.05618998272211E-4	0.046
18	77121728	C	T	18	79361728	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.05618998272211E-4	0.118
18	77121729	T	A	18	79361729	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.24824353344448E-5	0.0
18	77121729	T	C	18	79361729	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.53814986019981E-5	0.0
18	77121729	T	G	18	79361729	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.53814986019981E-5	0.0
18	77121730	T	A	18	79361730	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.24824353344448E-5	0.0
18	77121730	T	C	18	79361730	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.53814986019981E-5	0.0
18	77121730	T	G	18	79361730	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.53814986019981E-5	0.0
18	77121731	C	A	18	79361731	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.5377165147034E-4	0.012
18	77121731	C	G	18	79361731	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.5377165147034E-4	0.006
18	77121731	C	T	18	79361731	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.79460503124389E-4	0.006
18	77121732	T	A	18	79361732	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.49702646665041E-5	0.004
18	77121732	T	C	18	79361732	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.49702646665041E-5	0.004
18	77121732	T	G	18	79361732	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.49702646665041E-5	0.004
18	77121733	G	A	18	79361733	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.26007143607885E-5	0.008
18	77121733	G	C	18	79361733	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.44571914076258E-5	0.002
18	77121733	G	T	18	79361733	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.29053983792868E-5	0.006
18	77121734	A	C	18	79361734	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.53814986019981E-5	0.0
18	77121734	A	G	18	79361734	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.53814986019981E-5	0.0
18	77121734	A	T	18	79361734	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.53814986019981E-5	0.0
18	77121735	A	C	18	79361735	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.14505838604605E-5	0.006
18	77121735	A	G	18	79361735	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.14505838604605E-5	0.008
18	77121735	A	T	18	79361735	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.14505838604605E-5	0.006
18	77121736	C	A	18	79361736	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.59124223434785E-5	0.014
18	77121736	C	G	18	79361736	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.59124223434785E-5	0.014
18	77121736	C	T	18	79361736	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.59124223434785E-5	0.028
18	77121737	A	C	18	79361737	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.68-2A>C)	.	.	2.11203329754734E-5	0.002
18	77121737	A	G	18	79361737	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.68-2A>G)	.	.	2.11203329754734E-5	0.002
18	77121737	A	T	18	79361737	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.68-2A>T)	.	.	9.14505838604605E-5	0.006
18	77121738	G	A	18	79361738	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.68-1G>A)	.	.	3.07620641825897E-5	0.0
18	77121738	G	C	18	79361738	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.68-1G>C)	.	.	3.07620641825897E-5	0.0
18	77121738	G	T	18	79361738	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.68-1G>T)	.	.	3.07620641825897E-5	0.0
18	77121739	T	A	18	79361739	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000587919:exon2:c.T68A:p.V23D;	4.53814986019981E-5	0.0
18	77121739	T	C	18	79361739	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000587919:exon2:c.T68C:p.V23A;	6.06850435703539E-5	0.01
18	77121739	T	G	18	79361739	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000587919:exon2:c.T68G:p.V23G;	6.06850435703539E-5	0.014
18	77121740	T	A	18	79361740	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000587919:exon2:c.T69A:p.V23V;	3.23318671281552E-5	0.084
18	77121740	T	C	18	79361740	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000587919:exon2:c.T69C:p.V23V;	3.23318671281552E-5	0.008
18	77121740	T	G	18	79361740	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000587919:exon2:c.T69G:p.V23V;	3.23318671281552E-5	0.008
18	77121990	A	C	18	79361990	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121990	A	G	18	79361990	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121990	A	T	18	79361990	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	2.66426746904339E-5	0.0
18	77121991	G	A	18	79361991	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	6.47927064678143E-5	0.0
18	77121991	G	C	18	79361991	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.56483984486642E-5	0.0
18	77121991	G	T	18	79361991	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	6.47927064678143E-5	0.0
18	77121992	T	A	18	79361992	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	2.66426746904339E-5	0.0
18	77121992	T	C	18	79361992	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121992	T	G	18	79361992	n	y	intronic	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121993	G	A	18	79361993	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.321+1G>A)	.	.	6.47927064678143E-5	0.0
18	77121993	G	C	18	79361993	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.321+1G>C)	.	.	3.56483984486642E-5	0.0
18	77121993	G	T	18	79361993	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.321+1G>T)	.	.	6.47927064678143E-5	0.0
18	77121994	T	A	18	79361994	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.321+2T>A)	.	.	4.84247199350714E-5	0.0
18	77121994	T	C	18	79361994	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.321+2T>C)	.	.	5.84430896923724E-5	0.0
18	77121994	T	G	18	79361994	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000587919:exon2:c.321+2T>G)	.	.	5.84430896923724E-5	0.0
18	77121995	G	A	18	79361995	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.47927064678143E-5	0.0
18	77121995	G	C	18	79361995	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.56483984486642E-5	0.0
18	77121995	G	T	18	79361995	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.56483984486642E-5	0.0
18	77121996	A	C	18	79361996	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121996	A	G	18	79361996	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121996	A	T	18	79361996	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121997	G	A	18	79361997	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.47927064678143E-5	0.0
18	77121997	G	C	18	79361997	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.56483984486642E-5	0.0
18	77121997	G	T	18	79361997	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.56483984486642E-5	0.0
18	77121998	T	A	18	79361998	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121998	T	C	18	79361998	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.64124613648393E-5	0.0
18	77121998	T	G	18	79361998	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77121999	A	C	18	79361999	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.64124613648393E-5	0.0
18	77121999	A	G	18	79361999	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.64124613648393E-5	0.0
18	77121999	A	T	18	79361999	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77122000	A	C	18	79362000	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.64124613648393E-5	0.0
18	77122000	A	G	18	79362000	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.64124613648393E-5	0.0
18	77122000	A	T	18	79362000	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.84430896923724E-5	0.0
18	77132547	C	A	18	79372547	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.09213309395859E-4	0.018
18	77132547	C	G	18	79372547	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.09213309395859E-4	0.016
18	77132547	C	T	18	79372547	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.95486020593059E-4	0.018
18	77132548	T	A	18	79372548	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.93248123866459E-5	0.002
18	77132548	T	C	18	79372548	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.93248123866459E-5	0.002
18	77132548	T	G	18	79372548	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.93248123866459E-5	0.002
18	77132549	G	A	18	79372549	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.7749166663215E-5	0.088
18	77132549	G	C	18	79372549	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.7749166663215E-5	0.0
18	77132549	G	T	18	79372549	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.7749166663215E-5	0.002
18	77132550	G	A	18	79372550	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.19415310822882E-5	0.006
18	77132550	G	C	18	79372550	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.80332477406426E-5	0.004
18	77132550	G	T	18	79372550	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.19415310822882E-5	0.006
18	77132551	C	A	18	79372551	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.19415310822882E-5	0.008
18	77132551	C	G	18	79372551	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.80332477406426E-5	0.004
18	77132551	C	T	18	79372551	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.19415310822882E-5	0.006
18	77132552	T	A	18	79372552	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.53292460361593E-5	0.028
18	77132552	T	C	18	79372552	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.53292460361593E-5	0.014
18	77132552	T	G	18	79372552	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.53292460361593E-5	0.014
18	77132553	T	A	18	79372553	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.01578748569253E-5	0.0
18	77132553	T	C	18	79372553	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.95241758590049E-5	0.0
18	77132553	T	G	18	79372553	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.95241758590049E-5	0.0
18	77132554	A	C	18	79372554	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.6857887130806E-5	0.004
18	77132554	A	G	18	79372554	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.6857887130806E-5	0.004
18	77132554	A	T	18	79372554	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.05606112543448E-5	0.008
18	77132555	G	A	18	79372555	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.67183461620713E-5	0.094
18	77132555	G	C	18	79372555	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.59209916280968E-5	0.02
18	77132555	G	T	18	79372555	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.91793985515066E-5	0.004
18	77132556	T	A	18	79372556	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.21557472225283E-5	0.0
18	77132556	T	C	18	79372556	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.29994972594758E-5	0.104
18	77132556	T	G	18	79372556	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.29994972594758E-5	0.02
18	77132557	A	C	18	79372557	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.194-2A>C)	.	.	4.04701645548368E-5	0.012
18	77132557	A	G	18	79372557	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.194-2A>G)	.	.	4.04701645548368E-5	0.012
18	77132557	A	T	18	79372557	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.194-2A>T)	.	.	3.02642503822698E-5	0.002
18	77132558	G	A	18	79372558	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.194-1G>A)	.	.	3.28877913676269E-5	0.006
18	77132558	G	C	18	79372558	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.194-1G>C)	.	.	2.88637294006008E-5	0.004
18	77132558	G	T	18	79372558	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.194-1G>T)	.	.	3.28877913676269E-5	0.006
18	77132559	A	C	18	79372559	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	3.52173701430229E-5	0.022
18	77132559	A	G	18	79372559	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	3.52173701430229E-5	0.096
18	77132559	A	T	18	79372559	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	2.63360899965148E-5	0.0
18	77132560	G	A	18	79372560	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	3.15849948155271E-5	0.0
18	77132560	G	C	18	79372560	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	3.15849948155271E-5	0.0
18	77132560	G	T	18	79372560	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	3.15849948155271E-5	0.0
18	77132683	C	A	18	79372683	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	3.37582853480714E-5	0.0
18	77132683	C	G	18	79372683	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	3.37582853480714E-5	0.0
18	77132683	C	T	18	79372683	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	3.37582853480714E-5	0.0
18	77132684	T	A	18	79372684	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	1.86269840649936E-5	0.034
18	77132684	T	C	18	79372684	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	1.20590404879984E-5	0.0
18	77132684	T	G	18	79372684	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	1.20590404879984E-5	0.0
18	77132685	G	A	18	79372685	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	2.6749898621544E-5	0.0
18	77132685	G	C	18	79372685	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	2.6749898621544E-5	0.0
18	77132685	G	T	18	79372685	n	y	intronic	ATP9B	.	.	exonic	ENSG00000166377	unknown	UNKNOWN	2.6749898621544E-5	0.0
18	77132686	G	A	18	79372686	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.320+1G>A)	.	.	4.25881015839679E-5	0.058
18	77132686	G	C	18	79372686	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.320+1G>C)	.	.	4.25881015839679E-5	0.058
18	77132686	G	T	18	79372686	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.320+1G>T)	.	.	4.25881015839679E-5	0.058
18	77132687	T	A	18	79372687	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.320+2T>A)	.	.	2.25524929795369E-5	0.0
18	77132687	T	C	18	79372687	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.320+2T>C)	.	.	1.46004206284423E-5	0.0
18	77132687	T	G	18	79372687	n	y	intronic	ATP9B	.	.	splicing	ENSG00000166377(ENST00000588921:exon4:c.320+2T>G)	.	.	1.46004206284423E-5	0.0
18	77132688	A	C	18	79372688	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.42005417025298E-5	0.046
18	77132688	A	G	18	79372688	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.42005417025298E-5	0.046
18	77132688	A	T	18	79372688	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.42005417025298E-5	0.046
18	77132689	G	A	18	79372689	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.86431456331734E-5	0.0
18	77132689	G	C	18	79372689	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.86431456331734E-5	0.002
18	77132689	G	T	18	79372689	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.86431456331734E-5	0.002
18	77132690	A	C	18	79372690	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.25524929795369E-5	0.0
18	77132690	A	G	18	79372690	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.25524929795369E-5	0.0
18	77132690	A	T	18	79372690	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.25524929795369E-5	0.0
18	77132691	C	A	18	79372691	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.21619245134896E-5	0.002
18	77132691	C	G	18	79372691	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.21619245134896E-5	0.004
18	77132691	C	T	18	79372691	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.21619245134896E-5	0.006
18	77132692	C	A	18	79372692	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.29172098833992E-5	0.008
18	77132692	C	G	18	79372692	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.29172098833992E-5	0.008
18	77132692	C	T	18	79372692	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.29172098833992E-5	0.008
18	77132693	A	C	18	79372693	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.78864525412067E-5	0.0
18	77132693	A	G	18	79372693	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.78864525412067E-5	0.0
18	77132693	A	T	18	79372693	n	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.78864525412067E-5	0.0
18	77132813	C	A	18	79372813	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.39340291112551E-4	0.082
18	77132813	C	G	18	79372813	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.977743716358095	0.734
18	77132813	C	T	18	79372813	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.93437174335958E-5	0.0
18	77132814	T	A	18	79372814	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999613982201564	0.918
18	77132814	T	C	18	79372814	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.19839245321517E-4	0.056
18	77132814	T	G	18	79372814	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.287745610227811	0.472
18	77132815	G	A	18	79372815	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.46716032378393E-4	0.006
18	77132815	G	C	18	79372815	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.98406331689851E-5	0.002
18	77132815	G	T	18	79372815	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.39936692580335E-5	0.002
18	77132816	T	A	18	79372816	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.028596135437513	0.45
18	77132816	T	C	18	79372816	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.001649079766975	0.074
18	77132816	T	G	18	79372816	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0440013945550006	0.452
18	77132817	T	A	18	79372817	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.93618746776512E-4	0.06
18	77132817	T	C	18	79372817	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.61323391510118E-6	0.0
18	77132817	T	G	18	79372817	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.98546736100798E-4	0.082
18	77132818	T	A	18	79372818	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0447070480715822	0.144
18	77132818	T	C	18	79372818	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.19932073464739E-5	0.0
18	77132818	T	G	18	79372818	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00164341430239727	0.028
18	77132819	C	A	18	79372819	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.01795855735873	0.322
18	77132819	C	G	18	79372819	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0429000854123112	0.366
18	77132819	C	T	18	79372819	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.95238160825309E-4	0.136
18	77132820	C	A	18	79372820	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.372454305117546	0.506
18	77132820	C	G	18	79372820	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.433280138103007	0.522
18	77132820	C	T	18	79372820	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0509757569740735	0.302
18	77132821	C	A	18	79372821	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0213185788216435	0.204
18	77132821	C	G	18	79372821	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.020785760322634	0.192
18	77132821	C	T	18	79372821	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.124482795845529	0.3
18	77132822	T	A	18	79372822	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0270170573263359	0.276
18	77132822	T	C	18	79372822	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.38501968681003E-5	0.004
18	77132822	T	G	18	79372822	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.90406220208359	0.702
18	77132823	A	C	18	79372823	y	y	splicing	ATP9B(NM_198531:exon27:c.3013-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3013-2A>C;ENST00000307671:exon27:c.3013-2A>C;ENST00000543761:exon11:c.976-2A>C;ENST00000590477:exon6:c.503-2A>C;ENST00000588921:exon5:c.321-2A>C;ENST00000587919:exon3:c.322-2A>C)	.	.	0.999989917668626	0.928
18	77132823	A	G	18	79372823	y	y	splicing	ATP9B(NM_198531:exon27:c.3013-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3013-2A>G;ENST00000307671:exon27:c.3013-2A>G;ENST00000543761:exon11:c.976-2A>G;ENST00000590477:exon6:c.503-2A>G;ENST00000588921:exon5:c.321-2A>G;ENST00000587919:exon3:c.322-2A>G)	.	.	0.999989917668626	0.928
18	77132823	A	T	18	79372823	y	y	splicing	ATP9B(NM_198531:exon27:c.3013-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3013-2A>T;ENST00000307671:exon27:c.3013-2A>T;ENST00000543761:exon11:c.976-2A>T;ENST00000590477:exon6:c.503-2A>T;ENST00000588921:exon5:c.321-2A>T;ENST00000587919:exon3:c.322-2A>T)	.	.	0.999989917668626	0.928
18	77132824	G	A	18	79372824	y	y	splicing	ATP9B(NM_198531:exon27:c.3013-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3013-1G>A;ENST00000307671:exon27:c.3013-1G>A;ENST00000543761:exon11:c.976-1G>A;ENST00000590477:exon6:c.503-1G>A;ENST00000588921:exon5:c.321-1G>A;ENST00000587919:exon3:c.322-1G>A)	.	.	0.999981760802075	0.94
18	77132824	G	C	18	79372824	y	y	splicing	ATP9B(NM_198531:exon27:c.3013-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3013-1G>C;ENST00000307671:exon27:c.3013-1G>C;ENST00000543761:exon11:c.976-1G>C;ENST00000590477:exon6:c.503-1G>C;ENST00000588921:exon5:c.321-1G>C;ENST00000587919:exon3:c.322-1G>C)	.	.	0.999981760802075	0.94
18	77132824	G	T	18	79372824	y	y	splicing	ATP9B(NM_198531:exon27:c.3013-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3013-1G>T;ENST00000307671:exon27:c.3013-1G>T;ENST00000543761:exon11:c.976-1G>T;ENST00000590477:exon6:c.503-1G>T;ENST00000588921:exon5:c.321-1G>T;ENST00000587919:exon3:c.322-1G>T)	.	.	0.999981760802075	0.94
18	77132825	G	A	18	79372825	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.G3013A:p.G1005R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.G3013A:p.G1005R;ENSG00000166377:ENST00000426216:exon27:c.G3013A:p.G1005R;ENSG00000166377:ENST00000590477:exon6:c.G503A:p.G168E;ENSG00000166377:ENST00000543761:exon11:c.G976A:p.G326R;	0.999212519955661	0.974
18	77132825	G	C	18	79372825	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.G3013C:p.G1005R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.G3013C:p.G1005R;ENSG00000166377:ENST00000426216:exon27:c.G3013C:p.G1005R;ENSG00000166377:ENST00000590477:exon6:c.G503C:p.G168A;ENSG00000166377:ENST00000543761:exon11:c.G976C:p.G326R;	0.999798195491425	0.99
18	77132825	G	T	18	79372825	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon27:c.G3013T:p.G1005X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000307671:exon27:c.G3013T:p.G1005X;ENSG00000166377:ENST00000426216:exon27:c.G3013T:p.G1005X;ENSG00000166377:ENST00000543761:exon11:c.G976T:p.G326X;	0.99990256023938	0.99
18	77132826	G	A	18	79372826	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.G3014A:p.G1005E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.G3014A:p.G1005E;ENSG00000166377:ENST00000426216:exon27:c.G3014A:p.G1005E;ENSG00000166377:ENST00000543761:exon11:c.G977A:p.G326E;	0.899522831816686	0.814
18	77132826	G	C	18	79372826	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.G3014C:p.G1005A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.G3014C:p.G1005A;ENSG00000166377:ENST00000426216:exon27:c.G3014C:p.G1005A;ENSG00000166377:ENST00000543761:exon11:c.G977C:p.G326A;	0.868304890076236	0.852
18	77132826	G	T	18	79372826	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.G3014T:p.G1005V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.G3014T:p.G1005V;ENSG00000166377:ENST00000426216:exon27:c.G3014T:p.G1005V;ENSG00000166377:ENST00000543761:exon11:c.G977T:p.G326V;	0.937345652664374	0.84
18	77132880	A	C	18	79372880	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.A3068C:p.Q1023P;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.A3068C:p.Q1023P;ENSG00000166377:ENST00000426216:exon27:c.A3068C:p.Q1023P;ENSG00000166377:ENST00000543761:exon11:c.A1031C:p.Q344P;	0.635367022452705	0.598
18	77132880	A	G	18	79372880	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.A3068G:p.Q1023R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.A3068G:p.Q1023R;ENSG00000166377:ENST00000426216:exon27:c.A3068G:p.Q1023R;ENSG00000166377:ENST00000543761:exon11:c.A1031G:p.Q344R;	0.0846549749874574	0.368
18	77132880	A	T	18	79372880	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.A3068T:p.Q1023L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.A3068T:p.Q1023L;ENSG00000166377:ENST00000426216:exon27:c.A3068T:p.Q1023L;ENSG00000166377:ENST00000543761:exon11:c.A1031T:p.Q344L;	0.927598048277081	0.504
18	77132881	A	C	18	79372881	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.A3069C:p.Q1023H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.A3069C:p.Q1023H;ENSG00000166377:ENST00000426216:exon27:c.A3069C:p.Q1023H;ENSG00000166377:ENST00000543761:exon11:c.A1032C:p.Q344H;	0.990096653924978	0.906
18	77132881	A	G	18	79372881	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon27:c.A3069G:p.Q1023Q;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000590477:exon6:c.A559G:p.R187G;	0.749146213715704	0.49
18	77132881	A	T	18	79372881	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.A3069T:p.Q1023H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.A3069T:p.Q1023H;ENSG00000166377:ENST00000426216:exon27:c.A3069T:p.Q1023H;ENSG00000166377:ENST00000590477:exon6:c.A559T:p.R187W;ENSG00000166377:ENST00000543761:exon11:c.A1032T:p.Q344H;	0.990764521336062	0.732
18	77132882	G	A	18	79372882	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.G3070A:p.G1024S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.G3070A:p.G1024S;ENSG00000166377:ENST00000426216:exon27:c.G3070A:p.G1024S;ENSG00000166377:ENST00000590477:exon6:c.G560A:p.R187K;ENSG00000166377:ENST00000543761:exon11:c.G1033A:p.G345S;	0.999237139653086	0.994
18	77132882	G	C	18	79372882	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.G3070C:p.G1024R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.G3070C:p.G1024R;ENSG00000166377:ENST00000426216:exon27:c.G3070C:p.G1024R;ENSG00000166377:ENST00000590477:exon6:c.G560C:p.R187T;ENSG00000166377:ENST00000543761:exon11:c.G1033C:p.G345R;	0.99977097374763	0.982
18	77132882	G	T	18	79372882	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon27:c.G3070T:p.G1024C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon27:c.G3070T:p.G1024C;ENSG00000166377:ENST00000426216:exon27:c.G3070T:p.G1024C;ENSG00000166377:ENST00000590477:exon6:c.G560T:p.R187M;ENSG00000166377:ENST00000543761:exon11:c.G1033T:p.G345C;	0.999741079542746	0.988
18	77132883	G	A	18	79372883	y	y	splicing	ATP9B(NM_198531:exon27:c.3070+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3070+1G>A;ENST00000307671:exon27:c.3070+1G>A;ENST00000543761:exon11:c.1033+1G>A;ENST00000590477:exon6:c.560+1G>A;ENST00000588921:exon5:c.378+1G>A;ENST00000587919:exon3:c.379+1G>A)	.	.	0.999981760802075	0.94
18	77132883	G	C	18	79372883	y	y	splicing	ATP9B(NM_198531:exon27:c.3070+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3070+1G>C;ENST00000307671:exon27:c.3070+1G>C;ENST00000543761:exon11:c.1033+1G>C;ENST00000590477:exon6:c.560+1G>C;ENST00000588921:exon5:c.378+1G>C;ENST00000587919:exon3:c.379+1G>C)	.	.	0.999981760802075	0.94
18	77132883	G	T	18	79372883	y	y	splicing	ATP9B(NM_198531:exon27:c.3070+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3070+1G>T;ENST00000307671:exon27:c.3070+1G>T;ENST00000543761:exon11:c.1033+1G>T;ENST00000590477:exon6:c.560+1G>T;ENST00000588921:exon5:c.378+1G>T;ENST00000587919:exon3:c.379+1G>T)	.	.	0.999981760802075	0.94
18	77132884	T	A	18	79372884	y	y	splicing	ATP9B(NM_198531:exon27:c.3070+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3070+2T>A;ENST00000307671:exon27:c.3070+2T>A;ENST00000543761:exon11:c.1033+2T>A;ENST00000590477:exon6:c.560+2T>A;ENST00000588921:exon5:c.378+2T>A;ENST00000587919:exon3:c.379+2T>A)	.	.	0.999989917668626	0.928
18	77132884	T	C	18	79372884	y	y	splicing	ATP9B(NM_198531:exon27:c.3070+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3070+2T>C;ENST00000307671:exon27:c.3070+2T>C;ENST00000543761:exon11:c.1033+2T>C;ENST00000590477:exon6:c.560+2T>C;ENST00000588921:exon5:c.378+2T>C;ENST00000587919:exon3:c.379+2T>C)	.	.	0.988809971481602	0.62
18	77132884	T	G	18	79372884	y	y	splicing	ATP9B(NM_198531:exon27:c.3070+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon27:c.3070+2T>G;ENST00000307671:exon27:c.3070+2T>G;ENST00000543761:exon11:c.1033+2T>G;ENST00000590477:exon6:c.560+2T>G;ENST00000588921:exon5:c.378+2T>G;ENST00000587919:exon3:c.379+2T>G)	.	.	0.999989917668626	0.926
18	77132885	A	C	18	79372885	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.963157709197304	0.64
18	77132885	A	G	18	79372885	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0042030093570449	0.138
18	77132885	A	T	18	79372885	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.964037098783526	0.614
18	77132886	A	C	18	79372886	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0531114823081296	0.364
18	77132886	A	G	18	79372886	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.23341958659752	0.39
18	77132886	A	T	18	79372886	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0979610024466466	0.378
18	77132887	G	A	18	79372887	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.959150675379565	0.616
18	77132887	G	C	18	79372887	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.812640031369019	0.542
18	77132887	G	T	18	79372887	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.856613663379918	0.532
18	77132888	A	C	18	79372888	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.02680139558292E-5	0.016
18	77132888	A	G	18	79372888	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.1984050547515E-6	0.004
18	77132888	A	T	18	79372888	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.00972122570847E-5	0.004
18	77132889	C	A	18	79372889	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.57076726553018E-5	0.002
18	77132889	C	G	18	79372889	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.51095847753604E-5	0.004
18	77132889	C	T	18	79372889	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.12120002013752E-5	0.0
18	77132890	G	A	18	79372890	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.3004317960578E-5	0.0
18	77132890	G	C	18	79372890	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.3004317960578E-5	0.0
18	77132890	G	T	18	79372890	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.3004317960578E-5	0.0
18	77133886	G	A	18	79373886	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.65929482414803E-5	0.0
18	77133886	G	C	18	79373886	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.24155170016694E-6	0.0
18	77133886	G	T	18	79373886	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.31378247454735E-5	0.0
18	77133887	C	A	18	79373887	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00138638267924944	0.1
18	77133887	C	G	18	79373887	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.11081691827818E-4	0.04
18	77133887	C	T	18	79373887	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.64423360093605E-4	0.042
18	77133888	T	A	18	79373888	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999954956585783	0.988
18	77133888	T	C	18	79373888	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.29545554215605E-4	0.002
18	77133888	T	G	18	79373888	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0275121520084618	0.382
18	77133889	G	A	18	79373889	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	9.43761662011063E-5	0.024
18	77133889	G	C	18	79373889	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	8.01218136732461E-5	0.002
18	77133889	G	T	18	79373889	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	6.43134158953909E-5	0.0
18	77133890	T	A	18	79373890	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.355245119781785	0.44
18	77133890	T	C	18	79373890	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.69873014586477E-4	0.01
18	77133890	T	G	18	79373890	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.022339458019485	0.35
18	77133891	T	A	18	79373891	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00216818644985388	0.042
18	77133891	T	C	18	79373891	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.8327001553688E-5	0.0
18	77133891	T	G	18	79373891	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.93099079133184E-4	0.038
18	77133892	T	A	18	79373892	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.972629146960502	0.626
18	77133892	T	C	18	79373892	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0011880359501681	0.044
18	77133892	T	G	18	79373892	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.906800733287289	0.604
18	77133893	T	A	18	79373893	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.77782086526419	0.286
18	77133893	T	C	18	79373893	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00128013793740726	0.04
18	77133893	T	G	18	79373893	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.914683190658656	0.328
18	77133894	T	A	18	79373894	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.97589621534894E-5	0.002
18	77133894	T	C	18	79373894	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.27488405167129E-5	0.002
18	77133894	T	G	18	79373894	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.39372110751275E-5	0.0
18	77133895	C	A	18	79373895	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.740847405862386	0.628
18	77133895	C	G	18	79373895	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999772314706554	0.966
18	77133895	C	T	18	79373895	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00369868532034473	0.136
18	77133896	A	C	18	79373896	y	y	splicing	ATP9B(NM_198531:exon28:c.3071-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3071-2A>C;ENST00000307671:exon28:c.3071-2A>C;ENST00000543761:exon12:c.1034-2A>C;ENST00000590477:exon7:c.561-2A>C;ENST00000588921:exon6:c.379-2A>C;ENST00000587919:exon4:c.380-2A>C)	.	.	0.999986903042585	0.928
18	77133896	A	G	18	79373896	y	y	splicing	ATP9B(NM_198531:exon28:c.3071-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3071-2A>G;ENST00000307671:exon28:c.3071-2A>G;ENST00000543761:exon12:c.1034-2A>G;ENST00000590477:exon7:c.561-2A>G;ENST00000588921:exon6:c.379-2A>G;ENST00000587919:exon4:c.380-2A>G)	.	.	0.999986903042585	0.928
18	77133896	A	T	18	79373896	y	y	splicing	ATP9B(NM_198531:exon28:c.3071-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3071-2A>T;ENST00000307671:exon28:c.3071-2A>T;ENST00000543761:exon12:c.1034-2A>T;ENST00000590477:exon7:c.561-2A>T;ENST00000588921:exon6:c.379-2A>T;ENST00000587919:exon4:c.380-2A>T)	.	.	0.999989917668626	0.926
18	77133897	G	A	18	79373897	y	y	splicing	ATP9B(NM_198531:exon28:c.3071-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3071-1G>A;ENST00000307671:exon28:c.3071-1G>A;ENST00000543761:exon12:c.1034-1G>A;ENST00000590477:exon7:c.561-1G>A;ENST00000588921:exon6:c.379-1G>A;ENST00000587919:exon4:c.380-1G>A)	.	.	0.999981760802075	0.94
18	77133897	G	C	18	79373897	y	y	splicing	ATP9B(NM_198531:exon28:c.3071-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3071-1G>C;ENST00000307671:exon28:c.3071-1G>C;ENST00000543761:exon12:c.1034-1G>C;ENST00000590477:exon7:c.561-1G>C;ENST00000588921:exon6:c.379-1G>C;ENST00000587919:exon4:c.380-1G>C)	.	.	0.999981760802075	0.94
18	77133897	G	T	18	79373897	y	y	splicing	ATP9B(NM_198531:exon28:c.3071-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3071-1G>T;ENST00000307671:exon28:c.3071-1G>T;ENST00000543761:exon12:c.1034-1G>T;ENST00000590477:exon7:c.561-1G>T;ENST00000588921:exon6:c.379-1G>T;ENST00000587919:exon4:c.380-1G>T)	.	.	0.999981760802075	0.94
18	77133898	G	A	18	79373898	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.G3071A:p.G1024D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.G3071A:p.G1024D;ENSG00000166377:ENST00000426216:exon28:c.G3071A:p.G1024D;ENSG00000166377:ENST00000543761:exon12:c.G1034A:p.G345D;	0.998613586917414	0.874
18	77133898	G	C	18	79373898	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.G3071C:p.G1024A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.G3071C:p.G1024A;ENSG00000166377:ENST00000426216:exon28:c.G3071C:p.G1024A;ENSG00000166377:ENST00000590477:exon7:c.G561C:p.R187S;ENSG00000166377:ENST00000543761:exon12:c.G1034C:p.G345A;	0.999383260810715	0.982
18	77133898	G	T	18	79373898	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.G3071T:p.G1024V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.G3071T:p.G1024V;ENSG00000166377:ENST00000426216:exon28:c.G3071T:p.G1024V;ENSG00000166377:ENST00000590477:exon7:c.G561T:p.R187S;ENSG00000166377:ENST00000543761:exon12:c.G1034T:p.G345V;	0.999672321916548	0.976
18	77133899	C	A	18	79373899	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon28:c.C3072A:p.G1024G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.C3072A:p.G1024G;ENSG00000166377:ENST00000426216:exon28:c.C3072A:p.G1024G;ENSG00000166377:ENST00000590477:exon7:c.C562A:p.R188R;ENSG00000166377:ENST00000543761:exon12:c.C1035A:p.G345G;	3.85881869945385E-5	0.006
18	77133899	C	G	18	79373899	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon28:c.C3072G:p.G1024G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000590477:exon7:c.C562G:p.R188G;	2.16731105974285E-5	0.028
18	77133899	C	T	18	79373899	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon28:c.C3072T:p.G1024G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000590477:exon7:c.C562T:p.R188W;	5.28860440672072E-6	0.016
18	77134099	T	A	18	79374099	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.T3272A:p.F1091Y;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.T3272A:p.F1091Y;ENSG00000166377:ENST00000426216:exon28:c.T3272A:p.F1091Y;ENSG00000166377:ENST00000543761:exon12:c.T1235A:p.F412Y;	0.52140393169209	0.742
18	77134099	T	C	18	79374099	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.T3272C:p.F1091S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.T3272C:p.F1091S;ENSG00000166377:ENST00000426216:exon28:c.T3272C:p.F1091S;ENSG00000166377:ENST00000543761:exon12:c.T1235C:p.F412S;	0.449646628507292	0.574
18	77134099	T	G	18	79374099	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.T3272G:p.F1091C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.T3272G:p.F1091C;ENSG00000166377:ENST00000426216:exon28:c.T3272G:p.F1091C;ENSG00000166377:ENST00000543761:exon12:c.T1235G:p.F412C;	0.527719204827481	0.62
18	77134100	T	A	18	79374100	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.T3273A:p.F1091L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.T3273A:p.F1091L;ENSG00000166377:ENST00000426216:exon28:c.T3273A:p.F1091L;ENSG00000166377:ENST00000543761:exon12:c.T1236A:p.F412L;	6.85087667834686E-5	0.194
18	77134100	T	C	18	79374100	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon28:c.T3273C:p.F1091F;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.T3273C:p.F1091F;ENSG00000166377:ENST00000426216:exon28:c.T3273C:p.F1091F;ENSG00000166377:ENST00000543761:exon12:c.T1236C:p.F412F;	2.60777455411872E-4	0.008
18	77134100	T	G	18	79374100	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.T3273G:p.F1091L;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.T3273G:p.F1091L;ENSG00000166377:ENST00000426216:exon28:c.T3273G:p.F1091L;ENSG00000166377:ENST00000543761:exon12:c.T1236G:p.F412L;	1.1005417534759E-4	0.058
18	77134101	G	A	18	79374101	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.G3274A:p.G1092S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.G3274A:p.D1092N;ENSG00000166377:ENST00000426216:exon28:c.G3274A:p.G1092S;ENSG00000166377:ENST00000543761:exon12:c.G1237A:p.D413N;	0.999509129909389	0.99
18	77134101	G	C	18	79374101	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.G3274C:p.G1092R;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.G3274C:p.D1092H;ENSG00000166377:ENST00000426216:exon28:c.G3274C:p.G1092R;ENSG00000166377:ENST00000543761:exon12:c.G1237C:p.D413H;	0.999770551704147	0.982
18	77134101	G	T	18	79374101	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon28:c.G3274T:p.G1092C;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon28:c.G3274T:p.D1092Y;ENSG00000166377:ENST00000426216:exon28:c.G3274T:p.G1092C;ENSG00000166377:ENST00000543761:exon12:c.G1237T:p.D413Y;	0.999468998795399	0.908
18	77134102	G	A	18	79374102	y	y	splicing	ATP9B(NM_198531:exon28:c.3274+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3274+1G>A;ENST00000307671:exon28:c.3274+1G>A;ENST00000543761:exon12:c.1237+1G>A;ENST00000590477:exon7:c.764+1G>A;ENST00000588921:exon6:c.582+1G>A)	.	.	0.999981760802075	0.938
18	77134102	G	C	18	79374102	y	y	splicing	ATP9B(NM_198531:exon28:c.3274+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3274+1G>C;ENST00000307671:exon28:c.3274+1G>C;ENST00000543761:exon12:c.1237+1G>C;ENST00000590477:exon7:c.764+1G>C;ENST00000588921:exon6:c.582+1G>C)	.	.	0.999981760802075	0.938
18	77134102	G	T	18	79374102	y	y	splicing	ATP9B(NM_198531:exon28:c.3274+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3274+1G>T;ENST00000307671:exon28:c.3274+1G>T;ENST00000543761:exon12:c.1237+1G>T;ENST00000590477:exon7:c.764+1G>T;ENST00000588921:exon6:c.582+1G>T)	.	.	0.999981760802075	0.938
18	77134103	T	A	18	79374103	y	y	splicing	ATP9B(NM_198531:exon28:c.3274+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3274+2T>A;ENST00000307671:exon28:c.3274+2T>A;ENST00000543761:exon12:c.1237+2T>A;ENST00000590477:exon7:c.764+2T>A;ENST00000588921:exon6:c.582+2T>A)	.	.	0.999989917668626	0.928
18	77134103	T	C	18	79374103	y	y	splicing	ATP9B(NM_198531:exon28:c.3274+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3274+2T>C;ENST00000307671:exon28:c.3274+2T>C;ENST00000543761:exon12:c.1237+2T>C;ENST00000590477:exon7:c.764+2T>C;ENST00000588921:exon6:c.582+2T>C)	.	.	0.994485838132979	0.64
18	77134103	T	G	18	79374103	y	y	splicing	ATP9B(NM_198531:exon28:c.3274+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon28:c.3274+2T>G;ENST00000307671:exon28:c.3274+2T>G;ENST00000543761:exon12:c.1237+2T>G;ENST00000590477:exon7:c.764+2T>G;ENST00000588921:exon6:c.582+2T>G)	.	.	0.999989917668626	0.928
18	77134104	A	C	18	79374104	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.986107439524378	0.838
18	77134104	A	G	18	79374104	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00113399384399384	0.13
18	77134104	A	T	18	79374104	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.971894501504276	0.658
18	77134105	A	C	18	79374105	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997176628383852	0.872
18	77134105	A	G	18	79374105	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.99806768423455	0.91
18	77134105	A	T	18	79374105	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997687411818917	0.876
18	77134106	G	A	18	79374106	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999702997087873	0.904
18	77134106	G	C	18	79374106	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997118759162316	0.902
18	77134106	G	T	18	79374106	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998733570302707	0.804
18	77134107	T	A	18	79374107	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.977183057523066	0.664
18	77134107	T	C	18	79374107	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.966920329602283	0.648
18	77134107	T	G	18	79374107	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.918659557342158	0.576
18	77134108	T	A	18	79374108	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.46109672000966E-4	0.002
18	77134108	T	C	18	79374108	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.16477361302473E-4	0.002
18	77134108	T	G	18	79374108	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.29258104354909E-4	0.006
18	77134109	G	A	18	79374109	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00251134185722836	0.1
18	77134109	G	C	18	79374109	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00152508103295668	0.03
18	77134109	G	T	18	79374109	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00251134185722836	0.046
18	77135382	G	A	18	79375382	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.388902258243179	0.454
18	77135382	G	C	18	79375382	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0946784269636721	0.322
18	77135382	G	T	18	79375382	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.126168080798325	0.288
18	77135383	T	A	18	79375383	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998392756398231	0.876
18	77135383	T	C	18	79375383	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.283402565702802	0.378
18	77135383	T	G	18	79375383	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.99602762261664	0.79
18	77135384	T	A	18	79375384	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.987889114275607	0.558
18	77135384	T	C	18	79375384	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.94132838770987E-5	0.118
18	77135384	T	G	18	79375384	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.701670421781612	0.426
18	77135385	T	A	18	79375385	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.951911085052156	0.632
18	77135385	T	C	18	79375385	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00150533458561003	0.126
18	77135385	T	G	18	79375385	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.890344590409307	0.604
18	77135386	T	A	18	79375386	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999957188831529	0.992
18	77135386	T	C	18	79375386	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.22985765921118E-4	0.02
18	77135386	T	G	18	79375386	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.152762835638017	0.44
18	77135387	G	A	18	79375387	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.997698836543379	0.948
18	77135387	G	C	18	79375387	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.5926161149351E-4	0.0
18	77135387	G	T	18	79375387	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.66307626853509E-4	0.012
18	77135388	G	A	18	79375388	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.51431338768116E-5	0.0
18	77135388	G	C	18	79375388	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.76296466258162E-4	0.0
18	77135388	G	T	18	79375388	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.31884883680941E-4	0.016
18	77135389	A	C	18	79375389	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.20025412692874E-5	0.008
18	77135389	A	G	18	79375389	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.49489094278178E-4	0.016
18	77135389	A	T	18	79375389	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.85086900443195E-5	0.028
18	77135390	A	C	18	79375390	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00121599435809947	0.07
18	77135390	A	G	18	79375390	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.994963452107865	0.714
18	77135390	A	T	18	79375390	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.92466967127661E-4	0.024
18	77135391	C	A	18	79375391	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.998249418622292	0.956
18	77135391	C	G	18	79375391	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999884493695131	0.986
18	77135391	C	T	18	79375391	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0921357960686731	0.104
18	77135392	A	C	18	79375392	y	y	splicing	ATP9B(NM_198531:exon29:c.3275-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3275-2A>C;ENST00000588921:exon7:c.583-2A>C)	.	.	0.999991790889593	0.946
18	77135392	A	G	18	79375392	y	y	splicing	ATP9B(NM_198531:exon29:c.3275-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3275-2A>G;ENST00000588921:exon7:c.583-2A>G)	.	.	0.999991790889593	0.946
18	77135392	A	T	18	79375392	y	y	splicing	ATP9B(NM_198531:exon29:c.3275-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3275-2A>T;ENST00000588921:exon7:c.583-2A>T)	.	.	0.999991790889593	0.946
18	77135393	G	A	18	79375393	y	y	splicing	ATP9B(NM_198531:exon29:c.3275-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3275-1G>A;ENST00000588921:exon7:c.583-1G>A)	.	.	0.999991783345782	0.95
18	77135393	G	C	18	79375393	y	y	splicing	ATP9B(NM_198531:exon29:c.3275-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3275-1G>C;ENST00000588921:exon7:c.583-1G>C)	.	.	0.999991783345782	0.95
18	77135393	G	T	18	79375393	y	y	splicing	ATP9B(NM_198531:exon29:c.3275-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3275-1G>T;ENST00000588921:exon7:c.583-1G>T)	.	.	0.999991783345782	0.95
18	77135394	G	A	18	79375394	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.G3275A:p.G1092D;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.G3275A:p.G1092D;	0.00739585121897677	0.226
18	77135394	G	C	18	79375394	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.G3275C:p.G1092A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.G3275C:p.G1092A;	0.0339402930794316	0.432
18	77135394	G	T	18	79375394	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.G3275T:p.G1092V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.G3275T:p.G1092V;	0.471457978511215	0.476
18	77135395	T	A	18	79375395	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon29:c.T3276A:p.G1092G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.T3276A:p.G1092G;	0.00145814452566103	0.14
18	77135395	T	C	18	79375395	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon29:c.T3276C:p.G1092G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.T3276C:p.G1092G;	0.00163616768579795	0.126
18	77135395	T	G	18	79375395	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon29:c.T3276G:p.G1092G;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.T3276G:p.G1092G;	7.06644952145795E-4	0.12
18	77135424	T	A	18	79375424	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon29:c.T3305A:p.L1102X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000426216:exon29:c.T3305A:p.L1102X;	1.02113299928496E-4	0.348
18	77135424	T	C	18	79375424	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.T3305C:p.L1102S;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.T3305C:p.L1102S;	5.18099224788385E-5	0.012
18	77135424	T	G	18	79375424	y	y	exonic	ATP9B	stopgain SNV	ATP9B:NM_198531:exon29:c.T3305G:p.L1102X;	exonic	ENSG00000166377	stopgain SNV	ENSG00000166377:ENST00000426216:exon29:c.T3305G:p.L1102X;	1.0175950194124E-4	0.332
18	77135425	A	C	18	79375425	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.A3306C:p.L1102F;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.A3306C:p.L1102F;	0.08195293438988	0.592
18	77135425	A	G	18	79375425	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon29:c.A3306G:p.L1102L;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.A3306G:p.L1102L;	0.123381496824376	0.436
18	77135425	A	T	18	79375425	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.A3306T:p.L1102F;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.A3306T:p.L1102F;	0.476807392354121	0.612
18	77135426	G	A	18	79375426	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.G3307A:p.D1103N;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.G3307A:p.D1103N;	0.999732984181048	0.994
18	77135426	G	C	18	79375426	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.G3307C:p.D1103H;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.G3307C:p.D1103H;	0.999988016311971	0.978
18	77135426	G	T	18	79375426	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon29:c.G3307T:p.D1103Y;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000426216:exon29:c.G3307T:p.D1103Y;	0.999982068444067	1.0
18	77135427	G	A	18	79375427	y	y	splicing	ATP9B(NM_198531:exon29:c.3307+1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3307+1G>A;ENST00000588921:exon7:c.615+1G>A)	.	.	0.999962297682439	0.938
18	77135427	G	C	18	79375427	y	y	splicing	ATP9B(NM_198531:exon29:c.3307+1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3307+1G>C;ENST00000588921:exon7:c.615+1G>C)	.	.	0.999962297682439	0.948
18	77135427	G	T	18	79375427	y	y	splicing	ATP9B(NM_198531:exon29:c.3307+1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3307+1G>T;ENST00000588921:exon7:c.615+1G>T)	.	.	0.999962297682439	0.938
18	77135428	T	A	18	79375428	y	y	splicing	ATP9B(NM_198531:exon29:c.3307+2T>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3307+2T>A;ENST00000588921:exon7:c.615+2T>A)	.	.	0.999766743830213	0.886
18	77135428	T	C	18	79375428	y	y	splicing	ATP9B(NM_198531:exon29:c.3307+2T>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3307+2T>C;ENST00000588921:exon7:c.615+2T>C)	.	.	0.818235182157982	0.57
18	77135428	T	G	18	79375428	y	y	splicing	ATP9B(NM_198531:exon29:c.3307+2T>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon29:c.3307+2T>G;ENST00000588921:exon7:c.615+2T>G)	.	.	0.999811373972375	0.868
18	77135429	A	C	18	79375429	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.967133580008952	0.72
18	77135429	A	G	18	79375429	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.12457462218218	0.286
18	77135429	A	T	18	79375429	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.987332575624519	0.626
18	77135430	G	A	18	79375430	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.78549352745828E-4	0.054
18	77135430	G	C	18	79375430	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00244665997901194	0.132
18	77135430	G	T	18	79375430	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00215813508338369	0.076
18	77135431	G	A	18	79375431	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.962505054414191	0.758
18	77135431	G	C	18	79375431	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.994412681125662	0.774
18	77135431	G	T	18	79375431	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.974794669393571	0.602
18	77135432	T	A	18	79375432	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.435343542683363	0.384
18	77135432	T	C	18	79375432	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0986099322950643	0.422
18	77135432	T	G	18	79375432	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.387396402175537	0.392
18	77135433	A	C	18	79375433	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.90489519311827E-5	0.0
18	77135433	A	G	18	79375433	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.33396541987028E-4	0.0
18	77135433	A	T	18	79375433	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.39928074619149E-4	0.004
18	77135434	A	C	18	79375434	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.89598363400388E-5	0.002
18	77135434	A	G	18	79375434	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	3.20687394133202E-5	0.002
18	77135434	A	T	18	79375434	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.89598363400388E-5	0.0
18	77137235	T	A	18	79377235	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0213873013865903	0.292
18	77137235	T	C	18	79377235	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.20657978561796E-4	0.028
18	77137235	T	G	18	79377235	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0260264406023747	0.264
18	77137236	C	A	18	79377236	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0021390785612526	0.044
18	77137236	C	G	18	79377236	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00225721590910066	0.046
18	77137236	C	T	18	79377236	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.7745325466541E-5	0.002
18	77137237	C	A	18	79377237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.33575449973229E-4	0.014
18	77137237	C	G	18	79377237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.61261638362477E-4	0.02
18	77137237	C	T	18	79377237	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.52515013039301E-5	0.0
18	77137238	T	A	18	79377238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999470168395909	0.956
18	77137238	T	C	18	79377238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	5.42537563530824E-4	0.046
18	77137238	T	G	18	79377238	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0048393103933648	0.104
18	77137239	G	A	18	79377239	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.61405688572716E-4	0.006
18	77137239	G	C	18	79377239	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.33083930565462E-5	0.0
18	77137239	G	T	18	79377239	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	1.33684777350849E-5	0.0
18	77137240	C	A	18	79377240	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.304093922085933	0.3
18	77137240	C	G	18	79377240	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0687725749374224	0.3
18	77137240	C	T	18	79377240	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00111393408737843	0.034
18	77137241	C	A	18	79377241	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0040036196386536	0.274
18	77137241	C	G	18	79377241	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00417787358638693	0.238
18	77137241	C	T	18	79377241	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.66965260232035E-5	0.006
18	77137242	A	C	18	79377242	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.29098224090443E-4	0.114
18	77137242	A	G	18	79377242	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	4.8011660597269E-4	0.094
18	77137242	A	T	18	79377242	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	7.02051472336761E-5	0.046
18	77137243	A	C	18	79377243	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.00128324409844037	0.316
18	77137243	A	G	18	79377243	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.978655186986	0.592
18	77137243	A	T	18	79377243	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	2.46416907143997E-4	0.012
18	77137244	C	A	18	79377244	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.996457620651177	0.894
18	77137244	C	G	18	79377244	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.999847474110649	0.948
18	77137244	C	T	18	79377244	y	y	intronic	ATP9B	.	.	intronic	ENSG00000166377	.	.	0.0499706479668109	0.12
18	77137245	A	C	18	79377245	y	y	splicing	ATP9B(NM_198531:exon30:c.3308-2A>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon30:c.3308-2A>C;ENST00000307671:exon29:c.3275-2A>C;ENST00000543761:exon13:c.1238-2A>C;ENST00000590477:exon8:c.765-2A>C;ENST00000588921:exon8:c.616-2A>C)	.	.	0.999990155693597	0.946
18	77137245	A	G	18	79377245	y	y	splicing	ATP9B(NM_198531:exon30:c.3308-2A>G)	.	.	splicing	ENSG00000166377(ENST00000426216:exon30:c.3308-2A>G;ENST00000307671:exon29:c.3275-2A>G;ENST00000543761:exon13:c.1238-2A>G;ENST00000590477:exon8:c.765-2A>G;ENST00000588921:exon8:c.616-2A>G)	.	.	0.999990155693597	0.946
18	77137245	A	T	18	79377245	y	y	splicing	ATP9B(NM_198531:exon30:c.3308-2A>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon30:c.3308-2A>T;ENST00000307671:exon29:c.3275-2A>T;ENST00000543761:exon13:c.1238-2A>T;ENST00000590477:exon8:c.765-2A>T;ENST00000588921:exon8:c.616-2A>T)	.	.	0.999990155693597	0.946
18	77137246	G	A	18	79377246	y	y	splicing	ATP9B(NM_198531:exon30:c.3308-1G>A)	.	.	splicing	ENSG00000166377(ENST00000426216:exon30:c.3308-1G>A;ENST00000307671:exon29:c.3275-1G>A;ENST00000543761:exon13:c.1238-1G>A;ENST00000590477:exon8:c.765-1G>A;ENST00000588921:exon8:c.616-1G>A)	.	.	0.999988568935494	0.952
18	77137246	G	C	18	79377246	y	y	splicing	ATP9B(NM_198531:exon30:c.3308-1G>C)	.	.	splicing	ENSG00000166377(ENST00000426216:exon30:c.3308-1G>C;ENST00000307671:exon29:c.3275-1G>C;ENST00000543761:exon13:c.1238-1G>C;ENST00000590477:exon8:c.765-1G>C;ENST00000588921:exon8:c.616-1G>C)	.	.	0.999988568935494	0.952
18	77137246	G	T	18	79377246	y	y	splicing	ATP9B(NM_198531:exon30:c.3308-1G>T)	.	.	splicing	ENSG00000166377(ENST00000426216:exon30:c.3308-1G>T;ENST00000307671:exon29:c.3275-1G>T;ENST00000543761:exon13:c.1238-1G>T;ENST00000590477:exon8:c.765-1G>T;ENST00000588921:exon8:c.616-1G>T)	.	.	0.999988568935494	0.952
18	77137247	A	C	18	79377247	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon30:c.A3308C:p.D1103A;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon29:c.A3275C:p.D1092A;ENSG00000166377:ENST00000426216:exon30:c.A3308C:p.D1103A;ENSG00000166377:ENST00000543761:exon13:c.A1238C:p.D413A;	0.320687262206944	0.464
18	77137247	A	G	18	79377247	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon30:c.A3308G:p.D1103G;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon29:c.A3275G:p.D1092G;ENSG00000166377:ENST00000426216:exon30:c.A3308G:p.D1103G;ENSG00000166377:ENST00000543761:exon13:c.A1238G:p.D413G;	0.293602133920421	0.426
18	77137247	A	T	18	79377247	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon30:c.A3308T:p.D1103V;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon29:c.A3275T:p.D1092V;ENSG00000166377:ENST00000426216:exon30:c.A3308T:p.D1103V;ENSG00000166377:ENST00000543761:exon13:c.A1238T:p.D413V;	0.317105218527352	0.38
18	77137248	T	A	18	79377248	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon30:c.T3309A:p.D1103E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon29:c.T3276A:p.D1092E;ENSG00000166377:ENST00000426216:exon30:c.T3309A:p.D1103E;ENSG00000166377:ENST00000543761:exon13:c.T1239A:p.D413E;	6.32771092462057E-5	0.12
18	77137248	T	C	18	79377248	y	y	exonic	ATP9B	synonymous SNV	ATP9B:NM_198531:exon30:c.T3309C:p.D1103D;	exonic	ENSG00000166377	synonymous SNV	ENSG00000166377:ENST00000307671:exon29:c.T3276C:p.D1092D;ENSG00000166377:ENST00000426216:exon30:c.T3309C:p.D1103D;ENSG00000166377:ENST00000543761:exon13:c.T1239C:p.D413D;	0.00101624422247622	0.142
18	77137248	T	G	18	79377248	y	y	exonic	ATP9B	nonsynonymous SNV	ATP9B:NM_198531:exon30:c.T3309G:p.D1103E;	exonic	ENSG00000166377	nonsynonymous SNV	ENSG00000166377:ENST00000307671:exon29:c.T3276G:p.D1092E;ENSG00000166377:ENST00000426216:exon30:c.T3309G:p.D1103E;ENSG00000166377:ENST00000543761:exon13:c.T1239G:p.D413E;	3.16951371853494E-4	0.14
18	77137748	T	A	18	79377748	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	77137748	T	C	18	79377748	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	77137748	T	G	18	79377748	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	77137749	C	A	18	79377749	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	77137749	C	G	18	79377749	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	77137749	C	T	18	79377749	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.17601508165304E-5	0.0
18	77137750	T	A	18	79377750	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.17601508165304E-5	0.0
18	77137750	T	C	18	79377750	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.17601508165304E-5	0.0
18	77137750	T	G	18	79377750	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.17601508165304E-5	0.0
18	77137751	C	A	18	79377751	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.16029726566022E-5	0.002
18	77137751	C	G	18	79377751	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	77137751	C	T	18	79377751	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.17601508165304E-5	0.0
18	77137752	A	C	18	79377752	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	77137752	A	G	18	79377752	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.03997877173435E-5	0.0
18	77137752	A	T	18	79377752	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	9.16029726566022E-5	0.0
18	77137753	G	A	18	79377753	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.56483984486642E-5	0.012
18	77137753	G	C	18	79377753	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.76699047081367E-5	0.006
18	77137753	G	T	18	79377753	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.76699047081367E-5	0.008
18	77137754	T	A	18	79377754	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.64124613648393E-5	0.0
18	77137754	T	C	18	79377754	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.10375415512646E-5	0.0
18	77137754	T	G	18	79377754	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.10375415512646E-5	0.0
18	77137755	G	A	18	79377755	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.76699047081367E-5	0.006
18	77137755	G	C	18	79377755	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.18372186627074E-5	0.004
18	77137755	G	T	18	79377755	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.76699047081367E-5	0.008
18	77137756	T	A	18	79377756	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	5.64124613648393E-5	0.0
18	77137756	T	C	18	79377756	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.10375415512646E-5	0.0
18	77137756	T	G	18	79377756	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.10375415512646E-5	0.0
18	77137757	G	A	18	79377757	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.76699047081367E-5	0.006
18	77137757	G	C	18	79377757	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.18372186627074E-5	0.004
18	77137757	G	T	18	79377757	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.76699047081367E-5	0.008
18	77137758	A	C	18	79377758	n	y	UTR3	ATP9B	.	.	splicing	ENSG00000166377(ENST00000543761:exon14:c.1620-2A>C)	.	.	2.66426746904339E-5	0.0
18	77137758	A	G	18	79377758	n	y	UTR3	ATP9B	.	.	splicing	ENSG00000166377(ENST00000543761:exon14:c.1620-2A>G)	.	.	2.66426746904339E-5	0.0
18	77137758	A	T	18	79377758	n	y	UTR3	ATP9B	.	.	splicing	ENSG00000166377(ENST00000543761:exon14:c.1620-2A>T)	.	.	2.66426746904339E-5	0.0
18	77137759	G	A	18	79377759	n	y	UTR3	ATP9B	.	.	splicing	ENSG00000166377(ENST00000543761:exon14:c.1620-1G>A)	.	.	2.9537400818045E-5	0.0
18	77137759	G	C	18	79377759	n	y	UTR3	ATP9B	.	.	splicing	ENSG00000166377(ENST00000543761:exon14:c.1620-1G>C)	.	.	2.9537400818045E-5	0.0
18	77137759	G	T	18	79377759	n	y	UTR3	ATP9B	.	.	splicing	ENSG00000166377(ENST00000543761:exon14:c.1620-1G>T)	.	.	2.9537400818045E-5	0.0
18	77137760	G	A	18	79377760	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.56483984486642E-5	0.0
18	77137760	G	C	18	79377760	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.76699047081367E-5	0.028
18	77137760	G	T	18	79377760	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.56483984486642E-5	0.002
18	77137761	C	A	18	79377761	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.56483984486642E-5	0.002
18	77137761	C	G	18	79377761	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	4.76699047081367E-5	0.036
18	77137761	C	T	18	79377761	n	y	UTR3	ATP9B	.	.	UTR3	ENSG00000166377	.	.	3.56483984486642E-5	0.0
18	77156349	A	C	18	79396349	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon1:c.A125C:p.E42A;NFATC1:NM_006162:exon1:c.A125C:p.E42A;NFATC1:NM_172390:exon1:c.A125C:p.E42A;NFATC1:NM_001278670:exon1:c.A125C:p.E42A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon1:c.A125C:p.E42A;ENSG00000131196:ENST00000427363:exon1:c.A125C:p.E42A;ENSG00000131196:ENST00000542384:exon1:c.A125C:p.E42A;ENSG00000131196:ENST00000591814:exon1:c.A125C:p.E42A;ENSG00000131196:ENST00000587635:exon1:c.A125C:p.E42A;	0.00261584664080144	0.008
18	77156349	A	G	18	79396349	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon1:c.A125G:p.E42G;NFATC1:NM_006162:exon1:c.A125G:p.E42G;NFATC1:NM_172390:exon1:c.A125G:p.E42G;NFATC1:NM_001278670:exon1:c.A125G:p.E42G;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon1:c.A125G:p.E42G;ENSG00000131196:ENST00000427363:exon1:c.A125G:p.E42G;ENSG00000131196:ENST00000542384:exon1:c.A125G:p.E42G;ENSG00000131196:ENST00000591814:exon1:c.A125G:p.E42G;ENSG00000131196:ENST00000587635:exon1:c.A125G:p.E42G;	0.00386570099128344	0.112
18	77156349	A	T	18	79396349	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon1:c.A125T:p.E42V;NFATC1:NM_006162:exon1:c.A125T:p.E42V;NFATC1:NM_172390:exon1:c.A125T:p.E42V;NFATC1:NM_001278670:exon1:c.A125T:p.E42V;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon1:c.A125T:p.E42V;ENSG00000131196:ENST00000427363:exon1:c.A125T:p.E42V;ENSG00000131196:ENST00000542384:exon1:c.A125T:p.E42V;ENSG00000131196:ENST00000591814:exon1:c.A125T:p.E42V;ENSG00000131196:ENST00000587635:exon1:c.A125T:p.E42V;	0.00386570099128344	0.094
18	77156350	A	C	18	79396350	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon1:c.A126C:p.E42D;NFATC1:NM_006162:exon1:c.A126C:p.E42D;NFATC1:NM_172390:exon1:c.A126C:p.E42D;NFATC1:NM_001278670:exon1:c.A126C:p.E42D;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon1:c.A126C:p.E42D;ENSG00000131196:ENST00000427363:exon1:c.A126C:p.E42D;ENSG00000131196:ENST00000542384:exon1:c.A126C:p.E42D;ENSG00000131196:ENST00000591814:exon1:c.A126C:p.E42D;ENSG00000131196:ENST00000587635:exon1:c.A126C:p.E42D;	0.00110797651291257	0.006
18	77156350	A	G	18	79396350	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon1:c.A126G:p.E42E;NFATC1:NM_006162:exon1:c.A126G:p.E42E;NFATC1:NM_172390:exon1:c.A126G:p.E42E;NFATC1:NM_001278670:exon1:c.A126G:p.E42E;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon1:c.A126G:p.E42E;ENSG00000131196:ENST00000427363:exon1:c.A126G:p.E42E;ENSG00000131196:ENST00000542384:exon1:c.A126G:p.E42E;ENSG00000131196:ENST00000591814:exon1:c.A126G:p.E42E;ENSG00000131196:ENST00000587635:exon1:c.A126G:p.E42E;	0.00236669399226255	0.008
18	77156350	A	T	18	79396350	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon1:c.A126T:p.E42D;NFATC1:NM_006162:exon1:c.A126T:p.E42D;NFATC1:NM_172390:exon1:c.A126T:p.E42D;NFATC1:NM_001278670:exon1:c.A126T:p.E42D;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon1:c.A126T:p.E42D;ENSG00000131196:ENST00000427363:exon1:c.A126T:p.E42D;ENSG00000131196:ENST00000542384:exon1:c.A126T:p.E42D;ENSG00000131196:ENST00000591814:exon1:c.A126T:p.E42D;ENSG00000131196:ENST00000587635:exon1:c.A126T:p.E42D;	0.00110797651291257	0.006
18	77156351	G	A	18	79396351	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon1:c.G127A:p.E43K;NFATC1:NM_006162:exon1:c.G127A:p.E43K;NFATC1:NM_172390:exon1:c.G127A:p.E43K;NFATC1:NM_001278670:exon1:c.G127A:p.E43K;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon1:c.G127A:p.E43K;ENSG00000131196:ENST00000427363:exon1:c.G127A:p.E43K;ENSG00000131196:ENST00000542384:exon1:c.G127A:p.E43K;ENSG00000131196:ENST00000591814:exon1:c.G127A:p.E43K;ENSG00000131196:ENST00000587635:exon1:c.G127A:p.E43K;	0.0069051106940438	0.078
18	77156351	G	C	18	79396351	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon1:c.G127C:p.E43Q;NFATC1:NM_006162:exon1:c.G127C:p.E43Q;NFATC1:NM_172390:exon1:c.G127C:p.E43Q;NFATC1:NM_001278670:exon1:c.G127C:p.E43Q;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon1:c.G127C:p.E43Q;ENSG00000131196:ENST00000427363:exon1:c.G127C:p.E43Q;ENSG00000131196:ENST00000542384:exon1:c.G127C:p.E43Q;ENSG00000131196:ENST00000591814:exon1:c.G127C:p.E43Q;ENSG00000131196:ENST00000587635:exon1:c.G127C:p.E43Q;	0.00432471015775193	0.08
18	77156351	G	T	18	79396351	y	y	exonic	NFATC1	stopgain SNV	NFATC1:NM_001278669:exon1:c.G127T:p.E43X;NFATC1:NM_006162:exon1:c.G127T:p.E43X;NFATC1:NM_172390:exon1:c.G127T:p.E43X;NFATC1:NM_001278670:exon1:c.G127T:p.E43X;	exonic	ENSG00000131196	stopgain SNV	ENSG00000131196:ENST00000253506:exon1:c.G127T:p.E43X;ENSG00000131196:ENST00000427363:exon1:c.G127T:p.E43X;ENSG00000131196:ENST00000542384:exon1:c.G127T:p.E43X;ENSG00000131196:ENST00000591814:exon1:c.G127T:p.E43X;ENSG00000131196:ENST00000587635:exon1:c.G127T:p.E43X;	0.082089660389123	0.374
18	77156352	G	A	18	79396352	y	y	splicing	NFATC1(NM_001278670:exon1:c.127+1G>A;NM_006162:exon1:c.127+1G>A;NM_001278669:exon1:c.127+1G>A;NM_172390:exon1:c.127+1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon1:c.127+1G>A;ENST00000591814:exon1:c.127+1G>A;ENST00000587635:exon1:c.127+1G>A;ENST00000427363:exon1:c.127+1G>A;ENST00000542384:exon1:c.127+1G>A)	.	.	0.0069051106940438	0.068
18	77156352	G	C	18	79396352	y	y	splicing	NFATC1(NM_001278670:exon1:c.127+1G>C;NM_006162:exon1:c.127+1G>C;NM_001278669:exon1:c.127+1G>C;NM_172390:exon1:c.127+1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon1:c.127+1G>C;ENST00000591814:exon1:c.127+1G>C;ENST00000587635:exon1:c.127+1G>C;ENST00000427363:exon1:c.127+1G>C;ENST00000542384:exon1:c.127+1G>C)	.	.	0.00473048587252205	0.106
18	77156352	G	T	18	79396352	y	y	splicing	NFATC1(NM_001278670:exon1:c.127+1G>T;NM_006162:exon1:c.127+1G>T;NM_001278669:exon1:c.127+1G>T;NM_172390:exon1:c.127+1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon1:c.127+1G>T;ENST00000591814:exon1:c.127+1G>T;ENST00000587635:exon1:c.127+1G>T;ENST00000427363:exon1:c.127+1G>T;ENST00000542384:exon1:c.127+1G>T)	.	.	0.0069051106940438	0.07
18	77156353	T	A	18	79396353	y	y	splicing	NFATC1(NM_001278670:exon1:c.127+2T>A;NM_006162:exon1:c.127+2T>A;NM_001278669:exon1:c.127+2T>A;NM_172390:exon1:c.127+2T>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon1:c.127+2T>A;ENST00000591814:exon1:c.127+2T>A;ENST00000587635:exon1:c.127+2T>A;ENST00000427363:exon1:c.127+2T>A;ENST00000542384:exon1:c.127+2T>A)	.	.	0.0103654337966686	0.068
18	77156353	T	C	18	79396353	y	y	splicing	NFATC1(NM_001278670:exon1:c.127+2T>C;NM_006162:exon1:c.127+2T>C;NM_001278669:exon1:c.127+2T>C;NM_172390:exon1:c.127+2T>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon1:c.127+2T>C;ENST00000591814:exon1:c.127+2T>C;ENST00000587635:exon1:c.127+2T>C;ENST00000427363:exon1:c.127+2T>C;ENST00000542384:exon1:c.127+2T>C)	.	.	0.0115699956676365	0.066
18	77156353	T	G	18	79396353	y	y	splicing	NFATC1(NM_001278670:exon1:c.127+2T>G;NM_006162:exon1:c.127+2T>G;NM_001278669:exon1:c.127+2T>G;NM_172390:exon1:c.127+2T>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon1:c.127+2T>G;ENST00000591814:exon1:c.127+2T>G;ENST00000587635:exon1:c.127+2T>G;ENST00000427363:exon1:c.127+2T>G;ENST00000542384:exon1:c.127+2T>G)	.	.	0.0115699956676365	0.06
18	77156354	A	C	18	79396354	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00261584664080144	0.008
18	77156354	A	G	18	79396354	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00261584664080144	0.008
18	77156354	A	T	18	79396354	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00236669399226255	0.008
18	77156355	A	C	18	79396355	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00278424957825301	0.01
18	77156355	A	G	18	79396355	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00278424957825301	0.01
18	77156355	A	T	18	79396355	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00252652705881934	0.008
18	77156356	G	A	18	79396356	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00145419909006234	0.006
18	77156356	G	C	18	79396356	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00147809542693229	0.012
18	77156356	G	T	18	79396356	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00145419909006234	0.008
18	77156357	C	A	18	79396357	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.69853889855856E-4	0.036
18	77156357	C	G	18	79396357	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.60558419766807E-4	0.028
18	77156357	C	T	18	79396357	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00111496977242559	0.026
18	77156358	C	A	18	79396358	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.21677783640596E-4	0.0
18	77156358	C	G	18	79396358	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.96861213612409E-4	0.0
18	77156358	C	T	18	79396358	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.21677783640596E-4	0.0
18	77156359	C	A	18	79396359	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.21677783640596E-4	0.0
18	77156359	C	G	18	79396359	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.01603094693095E-4	0.0
18	77156359	C	T	18	79396359	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.21677783640596E-4	0.0
18	77160477	C	A	18	79400477	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278672:exon1:c.C86A:p.P29Q;NFATC1:NM_172387:exon1:c.C86A:p.P29Q;NFATC1:NM_001278675:exon1:c.C86A:p.P29Q;NFATC1:NM_172389:exon1:c.C86A:p.P29Q;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000318065:exon1:c.C86A:p.P29Q;ENSG00000131196:ENST00000329101:exon1:c.C86A:p.P29Q;ENSG00000131196:ENST00000586434:exon1:c.C86A:p.P29Q;ENSG00000131196:ENST00000592223:exon1:c.C86A:p.P29Q;ENSG00000131196:ENST00000590313:exon1:c.C86A:p.P29Q;	1.33905671048802E-4	0.032
18	77160477	C	G	18	79400477	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278672:exon1:c.C86G:p.P29R;NFATC1:NM_172387:exon1:c.C86G:p.P29R;NFATC1:NM_001278675:exon1:c.C86G:p.P29R;NFATC1:NM_172389:exon1:c.C86G:p.P29R;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000318065:exon1:c.C86G:p.P29R;ENSG00000131196:ENST00000329101:exon1:c.C86G:p.P29R;ENSG00000131196:ENST00000586434:exon1:c.C86G:p.P29R;ENSG00000131196:ENST00000592223:exon1:c.C86G:p.P29R;ENSG00000131196:ENST00000590313:exon1:c.C86G:p.P29R;	2.89868183967945E-4	0.076
18	77160477	C	T	18	79400477	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278672:exon1:c.C86T:p.P29L;NFATC1:NM_172387:exon1:c.C86T:p.P29L;NFATC1:NM_001278675:exon1:c.C86T:p.P29L;NFATC1:NM_172389:exon1:c.C86T:p.P29L;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000318065:exon1:c.C86T:p.P29L;ENSG00000131196:ENST00000329101:exon1:c.C86T:p.P29L;ENSG00000131196:ENST00000586434:exon1:c.C86T:p.P29L;ENSG00000131196:ENST00000592223:exon1:c.C86T:p.P29L;ENSG00000131196:ENST00000590313:exon1:c.C86T:p.P29L;	0.050488585439761	0.302
18	77160478	A	C	18	79400478	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278672:exon1:c.A87C:p.P29P;NFATC1:NM_172387:exon1:c.A87C:p.P29P;NFATC1:NM_001278675:exon1:c.A87C:p.P29P;NFATC1:NM_172389:exon1:c.A87C:p.P29P;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000318065:exon1:c.A87C:p.P29P;ENSG00000131196:ENST00000329101:exon1:c.A87C:p.P29P;ENSG00000131196:ENST00000586434:exon1:c.A87C:p.P29P;ENSG00000131196:ENST00000592223:exon1:c.A87C:p.P29P;ENSG00000131196:ENST00000590313:exon1:c.A87C:p.P29P;	0.958654562834252	0.732
18	77160478	A	G	18	79400478	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278672:exon1:c.A87G:p.P29P;NFATC1:NM_172387:exon1:c.A87G:p.P29P;NFATC1:NM_001278675:exon1:c.A87G:p.P29P;NFATC1:NM_172389:exon1:c.A87G:p.P29P;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000318065:exon1:c.A87G:p.P29P;ENSG00000131196:ENST00000329101:exon1:c.A87G:p.P29P;ENSG00000131196:ENST00000586434:exon1:c.A87G:p.P29P;ENSG00000131196:ENST00000592223:exon1:c.A87G:p.P29P;ENSG00000131196:ENST00000590313:exon1:c.A87G:p.P29P;	0.985739039014823	0.726
18	77160478	A	T	18	79400478	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278672:exon1:c.A87T:p.P29P;NFATC1:NM_172387:exon1:c.A87T:p.P29P;NFATC1:NM_001278675:exon1:c.A87T:p.P29P;NFATC1:NM_172389:exon1:c.A87T:p.P29P;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000318065:exon1:c.A87T:p.P29P;ENSG00000131196:ENST00000329101:exon1:c.A87T:p.P29P;ENSG00000131196:ENST00000586434:exon1:c.A87T:p.P29P;ENSG00000131196:ENST00000592223:exon1:c.A87T:p.P29P;ENSG00000131196:ENST00000590313:exon1:c.A87T:p.P29P;	0.994053643083294	0.912
18	77160479	G	A	18	79400479	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278672:exon1:c.G88A:p.E30K;NFATC1:NM_172387:exon1:c.G88A:p.E30K;NFATC1:NM_001278675:exon1:c.G88A:p.E30K;NFATC1:NM_172389:exon1:c.G88A:p.E30K;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000318065:exon1:c.G88A:p.E30K;ENSG00000131196:ENST00000329101:exon1:c.G88A:p.E30K;ENSG00000131196:ENST00000586434:exon1:c.G88A:p.E30K;ENSG00000131196:ENST00000592223:exon1:c.G88A:p.E30K;ENSG00000131196:ENST00000590313:exon1:c.G88A:p.A30T;	0.999727479925986	0.994
18	77160479	G	C	18	79400479	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278672:exon1:c.G88C:p.E30Q;NFATC1:NM_172387:exon1:c.G88C:p.E30Q;NFATC1:NM_001278675:exon1:c.G88C:p.E30Q;NFATC1:NM_172389:exon1:c.G88C:p.E30Q;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000318065:exon1:c.G88C:p.E30Q;ENSG00000131196:ENST00000329101:exon1:c.G88C:p.E30Q;ENSG00000131196:ENST00000586434:exon1:c.G88C:p.E30Q;ENSG00000131196:ENST00000592223:exon1:c.G88C:p.E30Q;ENSG00000131196:ENST00000590313:exon1:c.G88C:p.A30P;	0.999962560754901	0.994
18	77160479	G	T	18	79400479	y	y	exonic	NFATC1	stopgain SNV	NFATC1:NM_001278672:exon1:c.G88T:p.E30X;NFATC1:NM_172387:exon1:c.G88T:p.E30X;NFATC1:NM_001278675:exon1:c.G88T:p.E30X;NFATC1:NM_172389:exon1:c.G88T:p.E30X;	exonic	ENSG00000131196	stopgain SNV	ENSG00000131196:ENST00000318065:exon1:c.G88T:p.E30X;ENSG00000131196:ENST00000329101:exon1:c.G88T:p.E30X;ENSG00000131196:ENST00000586434:exon1:c.G88T:p.E30X;ENSG00000131196:ENST00000592223:exon1:c.G88T:p.E30X;	0.999976751962586	0.988
18	77160480	G	A	18	79400480	y	y	splicing	NFATC1(NM_172387:exon1:c.88+1G>A;NM_001278675:exon1:c.88+1G>A;NM_001278672:exon1:c.88+1G>A;NM_172389:exon1:c.88+1G>A)	.	.	splicing	ENSG00000131196(ENST00000318065:exon1:c.88+1G>A;ENST00000590313:exon1:c.88+1G>A;ENST00000592223:exon1:c.88+1G>A;ENST00000329101:exon1:c.88+1G>A;ENST00000586434:exon1:c.88+1G>A)	.	.	0.999978986619032	0.946
18	77160480	G	C	18	79400480	y	y	splicing	NFATC1(NM_172387:exon1:c.88+1G>C;NM_001278675:exon1:c.88+1G>C;NM_001278672:exon1:c.88+1G>C;NM_172389:exon1:c.88+1G>C)	.	.	splicing	ENSG00000131196(ENST00000318065:exon1:c.88+1G>C;ENST00000590313:exon1:c.88+1G>C;ENST00000592223:exon1:c.88+1G>C;ENST00000329101:exon1:c.88+1G>C;ENST00000586434:exon1:c.88+1G>C)	.	.	0.999978986619032	0.944
18	77160480	G	T	18	79400480	y	y	splicing	NFATC1(NM_172387:exon1:c.88+1G>T;NM_001278675:exon1:c.88+1G>T;NM_001278672:exon1:c.88+1G>T;NM_172389:exon1:c.88+1G>T)	.	.	splicing	ENSG00000131196(ENST00000318065:exon1:c.88+1G>T;ENST00000590313:exon1:c.88+1G>T;ENST00000592223:exon1:c.88+1G>T;ENST00000329101:exon1:c.88+1G>T;ENST00000586434:exon1:c.88+1G>T)	.	.	0.999978986619032	0.946
18	77160481	T	A	18	79400481	y	y	splicing	NFATC1(NM_172387:exon1:c.88+2T>A;NM_001278675:exon1:c.88+2T>A;NM_001278672:exon1:c.88+2T>A;NM_172389:exon1:c.88+2T>A)	.	.	splicing	ENSG00000131196(ENST00000318065:exon1:c.88+2T>A;ENST00000590313:exon1:c.88+2T>A;ENST00000592223:exon1:c.88+2T>A;ENST00000329101:exon1:c.88+2T>A;ENST00000586434:exon1:c.88+2T>A)	.	.	0.99998283665428	0.936
18	77160481	T	C	18	79400481	y	y	splicing	NFATC1(NM_172387:exon1:c.88+2T>C;NM_001278675:exon1:c.88+2T>C;NM_001278672:exon1:c.88+2T>C;NM_172389:exon1:c.88+2T>C)	.	.	splicing	ENSG00000131196(ENST00000318065:exon1:c.88+2T>C;ENST00000590313:exon1:c.88+2T>C;ENST00000592223:exon1:c.88+2T>C;ENST00000329101:exon1:c.88+2T>C;ENST00000586434:exon1:c.88+2T>C)	.	.	0.999929976787095	0.854
18	77160481	T	G	18	79400481	y	y	splicing	NFATC1(NM_172387:exon1:c.88+2T>G;NM_001278675:exon1:c.88+2T>G;NM_001278672:exon1:c.88+2T>G;NM_172389:exon1:c.88+2T>G)	.	.	splicing	ENSG00000131196(ENST00000318065:exon1:c.88+2T>G;ENST00000590313:exon1:c.88+2T>G;ENST00000592223:exon1:c.88+2T>G;ENST00000329101:exon1:c.88+2T>G;ENST00000586434:exon1:c.88+2T>G)	.	.	0.999982237960121	0.918
18	77160482	G	A	18	79400482	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00596034774239801	0.062
18	77160482	G	C	18	79400482	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.720459841191325	0.672
18	77160482	G	T	18	79400482	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.649280931243066	0.638
18	77160483	G	A	18	79400483	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0142223407893256	0.084
18	77160483	G	C	18	79400483	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0134492716877434	0.242
18	77160483	G	T	18	79400483	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0200599295637064	0.148
18	77160484	G	A	18	79400484	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.997242742337793	0.884
18	77160484	G	C	18	79400484	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.99971451768144	0.898
18	77160484	G	T	18	79400484	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.998361223617946	0.822
18	77160485	T	A	18	79400485	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0175606848407727	0.098
18	77160485	T	C	18	79400485	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.028518855581317	0.144
18	77160485	T	G	18	79400485	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00278109441841965	0.088
18	77160486	C	A	18	79400486	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.12514119798651E-4	0.002
18	77160486	C	G	18	79400486	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0012115657532853	0.044
18	77160486	C	T	18	79400486	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0019238397613664	0.02
18	77160487	A	C	18	79400487	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.96323034491673E-5	0.0
18	77160487	A	G	18	79400487	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.09492195491577E-4	0.054
18	77160487	A	T	18	79400487	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.15125035961338E-5	0.0
18	77170391	T	A	18	79410391	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.10427326075909E-4	0.018
18	77170391	T	C	18	79410391	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.86176152028869E-5	0.0
18	77170391	T	G	18	79410391	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.18160242910551E-4	0.07
18	77170392	T	A	18	79410392	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.10638997150381E-4	0.116
18	77170392	T	C	18	79410392	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.62940306061733E-5	0.012
18	77170392	T	G	18	79410392	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.1920563088516E-5	0.068
18	77170393	T	A	18	79410393	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.83241803979083E-4	0.044
18	77170393	T	C	18	79410393	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.22418591841079E-5	0.0
18	77170393	T	G	18	79410393	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.32953335687736E-4	0.07
18	77170394	T	A	18	79410394	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.94593076009776E-4	0.178
18	77170394	T	C	18	79410394	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.78415134856617E-5	0.004
18	77170394	T	G	18	79410394	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.14549304281253E-4	0.078
18	77170395	C	A	18	79410395	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.00353604063656E-4	0.018
18	77170395	C	G	18	79410395	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.23644706199143E-4	0.02
18	77170395	C	T	18	79410395	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.98146840611867E-5	0.002
18	77170396	T	A	18	79410396	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.41762346389462E-4	0.006
18	77170396	T	C	18	79410396	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.86950731704803E-5	0.0
18	77170396	T	G	18	79410396	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.54057608374199E-4	0.004
18	77170397	C	A	18	79410397	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.57901249178667E-4	0.012
18	77170397	C	G	18	79410397	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.4477776060336E-4	0.092
18	77170397	C	T	18	79410397	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.0613651520362E-5	0.0
18	77170398	T	A	18	79410398	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.05780875863334E-4	0.05
18	77170398	T	C	18	79410398	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.5209857134521E-5	0.004
18	77170398	T	G	18	79410398	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.873860333383E-4	0.1
18	77170399	C	A	18	79410399	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.58625519512621E-5	0.006
18	77170399	C	G	18	79410399	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.78772802616525E-5	0.002
18	77170399	C	T	18	79410399	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.55230174667031E-5	0.0
18	77170400	T	A	18	79410400	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.003202089672039	0.088
18	77170400	T	C	18	79410400	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.79213174474967E-5	0.0
18	77170400	T	G	18	79410400	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.411168551683224	0.476
18	77170401	A	C	18	79410401	y	y	splicing	NFATC1(NM_001278670:exon2:c.128-2A>C;NM_006162:exon2:c.128-2A>C;NM_001278669:exon2:c.128-2A>C;NM_172390:exon2:c.128-2A>C;NM_172387:exon2:c.89-2A>C;NM_001278675:exon2:c.89-2A>C;NM_001278672:exon2:c.89-2A>C;NM_172389:exon2:c.89-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.128-2A>C;ENST00000591814:exon2:c.128-2A>C;ENST00000587635:exon2:c.128-2A>C;ENST00000427363:exon2:c.128-2A>C;ENST00000542384:exon2:c.128-2A>C;ENST00000318065:exon2:c.89-2A>C;ENST00000592223:exon2:c.89-2A>C;ENST00000329101:exon2:c.89-2A>C;ENST00000586434:exon2:c.89-2A>C)	.	.	0.999969255906173	0.848
18	77170401	A	G	18	79410401	y	y	splicing	NFATC1(NM_001278670:exon2:c.128-2A>G;NM_006162:exon2:c.128-2A>G;NM_001278669:exon2:c.128-2A>G;NM_172390:exon2:c.128-2A>G;NM_172387:exon2:c.89-2A>G;NM_001278675:exon2:c.89-2A>G;NM_001278672:exon2:c.89-2A>G;NM_172389:exon2:c.89-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.128-2A>G;ENST00000591814:exon2:c.128-2A>G;ENST00000587635:exon2:c.128-2A>G;ENST00000427363:exon2:c.128-2A>G;ENST00000542384:exon2:c.128-2A>G;ENST00000318065:exon2:c.89-2A>G;ENST00000592223:exon2:c.89-2A>G;ENST00000329101:exon2:c.89-2A>G;ENST00000586434:exon2:c.89-2A>G)	.	.	0.999969255906173	0.848
18	77170401	A	T	18	79410401	y	y	splicing	NFATC1(NM_001278670:exon2:c.128-2A>T;NM_006162:exon2:c.128-2A>T;NM_001278669:exon2:c.128-2A>T;NM_172390:exon2:c.128-2A>T;NM_172387:exon2:c.89-2A>T;NM_001278675:exon2:c.89-2A>T;NM_001278672:exon2:c.89-2A>T;NM_172389:exon2:c.89-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.128-2A>T;ENST00000591814:exon2:c.128-2A>T;ENST00000587635:exon2:c.128-2A>T;ENST00000427363:exon2:c.128-2A>T;ENST00000542384:exon2:c.128-2A>T;ENST00000318065:exon2:c.89-2A>T;ENST00000592223:exon2:c.89-2A>T;ENST00000329101:exon2:c.89-2A>T;ENST00000586434:exon2:c.89-2A>T)	.	.	0.999969255906173	0.854
18	77170402	G	A	18	79410402	y	y	splicing	NFATC1(NM_001278670:exon2:c.128-1G>A;NM_006162:exon2:c.128-1G>A;NM_001278669:exon2:c.128-1G>A;NM_172390:exon2:c.128-1G>A;NM_172387:exon2:c.89-1G>A;NM_001278675:exon2:c.89-1G>A;NM_001278672:exon2:c.89-1G>A;NM_172389:exon2:c.89-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.128-1G>A;ENST00000591814:exon2:c.128-1G>A;ENST00000587635:exon2:c.128-1G>A;ENST00000427363:exon2:c.128-1G>A;ENST00000542384:exon2:c.128-1G>A;ENST00000318065:exon2:c.89-1G>A;ENST00000592223:exon2:c.89-1G>A;ENST00000329101:exon2:c.89-1G>A;ENST00000586434:exon2:c.89-1G>A)	.	.	0.999969242257053	0.884
18	77170402	G	C	18	79410402	y	y	splicing	NFATC1(NM_001278670:exon2:c.128-1G>C;NM_006162:exon2:c.128-1G>C;NM_001278669:exon2:c.128-1G>C;NM_172390:exon2:c.128-1G>C;NM_172387:exon2:c.89-1G>C;NM_001278675:exon2:c.89-1G>C;NM_001278672:exon2:c.89-1G>C;NM_172389:exon2:c.89-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.128-1G>C;ENST00000591814:exon2:c.128-1G>C;ENST00000587635:exon2:c.128-1G>C;ENST00000427363:exon2:c.128-1G>C;ENST00000542384:exon2:c.128-1G>C;ENST00000318065:exon2:c.89-1G>C;ENST00000592223:exon2:c.89-1G>C;ENST00000329101:exon2:c.89-1G>C;ENST00000586434:exon2:c.89-1G>C)	.	.	0.999965143305126	0.862
18	77170402	G	T	18	79410402	y	y	splicing	NFATC1(NM_001278670:exon2:c.128-1G>T;NM_006162:exon2:c.128-1G>T;NM_001278669:exon2:c.128-1G>T;NM_172390:exon2:c.128-1G>T;NM_172387:exon2:c.89-1G>T;NM_001278675:exon2:c.89-1G>T;NM_001278672:exon2:c.89-1G>T;NM_172389:exon2:c.89-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.128-1G>T;ENST00000591814:exon2:c.128-1G>T;ENST00000587635:exon2:c.128-1G>T;ENST00000427363:exon2:c.128-1G>T;ENST00000542384:exon2:c.128-1G>T;ENST00000318065:exon2:c.89-1G>T;ENST00000592223:exon2:c.89-1G>T;ENST00000329101:exon2:c.89-1G>T;ENST00000586434:exon2:c.89-1G>T)	.	.	0.999968430223941	0.874
18	77170403	A	C	18	79410403	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.A128C:p.E43A;NFATC1:NM_001278672:exon2:c.A89C:p.E30A;NFATC1:NM_172387:exon2:c.A89C:p.E30A;NFATC1:NM_006162:exon2:c.A128C:p.E43A;NFATC1:NM_001278675:exon2:c.A89C:p.E30A;NFATC1:NM_172390:exon2:c.A128C:p.E43A;NFATC1:NM_001278670:exon2:c.A128C:p.E43A;NFATC1:NM_172389:exon2:c.A89C:p.E30A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A128C:p.E43A;ENSG00000131196:ENST00000318065:exon2:c.A89C:p.E30A;ENSG00000131196:ENST00000329101:exon2:c.A89C:p.E30A;ENSG00000131196:ENST00000427363:exon2:c.A128C:p.E43A;ENSG00000131196:ENST00000542384:exon2:c.A128C:p.E43A;ENSG00000131196:ENST00000586434:exon2:c.A89C:p.E30A;ENSG00000131196:ENST00000591814:exon2:c.A128C:p.E43A;ENSG00000131196:ENST00000592223:exon2:c.A89C:p.E30A;ENSG00000131196:ENST00000587635:exon2:c.A128C:p.E43A;	0.0117554088427975	0.12
18	77170403	A	G	18	79410403	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.A128G:p.E43G;NFATC1:NM_001278672:exon2:c.A89G:p.E30G;NFATC1:NM_172387:exon2:c.A89G:p.E30G;NFATC1:NM_006162:exon2:c.A128G:p.E43G;NFATC1:NM_001278675:exon2:c.A89G:p.E30G;NFATC1:NM_172390:exon2:c.A128G:p.E43G;NFATC1:NM_001278670:exon2:c.A128G:p.E43G;NFATC1:NM_172389:exon2:c.A89G:p.E30G;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A128G:p.E43G;ENSG00000131196:ENST00000318065:exon2:c.A89G:p.E30G;ENSG00000131196:ENST00000329101:exon2:c.A89G:p.E30G;ENSG00000131196:ENST00000427363:exon2:c.A128G:p.E43G;ENSG00000131196:ENST00000542384:exon2:c.A128G:p.E43G;ENSG00000131196:ENST00000586434:exon2:c.A89G:p.E30G;ENSG00000131196:ENST00000591814:exon2:c.A128G:p.E43G;ENSG00000131196:ENST00000592223:exon2:c.A89G:p.E30G;ENSG00000131196:ENST00000587635:exon2:c.A128G:p.E43G;	9.3005854629752E-4	0.032
18	77170403	A	T	18	79410403	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.A128T:p.E43V;NFATC1:NM_001278672:exon2:c.A89T:p.E30V;NFATC1:NM_172387:exon2:c.A89T:p.E30V;NFATC1:NM_006162:exon2:c.A128T:p.E43V;NFATC1:NM_001278675:exon2:c.A89T:p.E30V;NFATC1:NM_172390:exon2:c.A128T:p.E43V;NFATC1:NM_001278670:exon2:c.A128T:p.E43V;NFATC1:NM_172389:exon2:c.A89T:p.E30V;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A128T:p.E43V;ENSG00000131196:ENST00000318065:exon2:c.A89T:p.E30V;ENSG00000131196:ENST00000329101:exon2:c.A89T:p.E30V;ENSG00000131196:ENST00000427363:exon2:c.A128T:p.E43V;ENSG00000131196:ENST00000542384:exon2:c.A128T:p.E43V;ENSG00000131196:ENST00000586434:exon2:c.A89T:p.E30V;ENSG00000131196:ENST00000591814:exon2:c.A128T:p.E43V;ENSG00000131196:ENST00000592223:exon2:c.A89T:p.E30V;ENSG00000131196:ENST00000587635:exon2:c.A128T:p.E43V;	0.0888516814429294	0.448
18	77170404	A	C	18	79410404	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.A129C:p.E43D;NFATC1:NM_001278672:exon2:c.A90C:p.E30D;NFATC1:NM_172387:exon2:c.A90C:p.E30D;NFATC1:NM_006162:exon2:c.A129C:p.E43D;NFATC1:NM_001278675:exon2:c.A90C:p.E30D;NFATC1:NM_172390:exon2:c.A129C:p.E43D;NFATC1:NM_001278670:exon2:c.A129C:p.E43D;NFATC1:NM_172389:exon2:c.A90C:p.E30D;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A129C:p.E43D;ENSG00000131196:ENST00000318065:exon2:c.A90C:p.E30D;ENSG00000131196:ENST00000329101:exon2:c.A90C:p.E30D;ENSG00000131196:ENST00000427363:exon2:c.A129C:p.E43D;ENSG00000131196:ENST00000542384:exon2:c.A129C:p.E43D;ENSG00000131196:ENST00000586434:exon2:c.A90C:p.E30D;ENSG00000131196:ENST00000591814:exon2:c.A129C:p.E43D;ENSG00000131196:ENST00000592223:exon2:c.A90C:p.E30D;ENSG00000131196:ENST00000587635:exon2:c.A129C:p.E43D;	9.37547950562301E-5	0.0
18	77170404	A	G	18	79410404	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon2:c.A129G:p.E43E;NFATC1:NM_001278672:exon2:c.A90G:p.E30E;NFATC1:NM_172387:exon2:c.A90G:p.E30E;NFATC1:NM_006162:exon2:c.A129G:p.E43E;NFATC1:NM_001278675:exon2:c.A90G:p.E30E;NFATC1:NM_172390:exon2:c.A129G:p.E43E;NFATC1:NM_001278670:exon2:c.A129G:p.E43E;NFATC1:NM_172389:exon2:c.A90G:p.E30E;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A129G:p.E43E;ENSG00000131196:ENST00000318065:exon2:c.A90G:p.E30E;ENSG00000131196:ENST00000329101:exon2:c.A90G:p.E30E;ENSG00000131196:ENST00000427363:exon2:c.A129G:p.E43E;ENSG00000131196:ENST00000542384:exon2:c.A129G:p.E43E;ENSG00000131196:ENST00000586434:exon2:c.A90G:p.E30E;ENSG00000131196:ENST00000591814:exon2:c.A129G:p.E43E;ENSG00000131196:ENST00000592223:exon2:c.A90G:p.E30E;ENSG00000131196:ENST00000587635:exon2:c.A129G:p.E43E;	5.34672493888369E-5	0.016
18	77170404	A	T	18	79410404	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.A129T:p.E43D;NFATC1:NM_001278672:exon2:c.A90T:p.E30D;NFATC1:NM_172387:exon2:c.A90T:p.E30D;NFATC1:NM_006162:exon2:c.A129T:p.E43D;NFATC1:NM_001278675:exon2:c.A90T:p.E30D;NFATC1:NM_172390:exon2:c.A129T:p.E43D;NFATC1:NM_001278670:exon2:c.A129T:p.E43D;NFATC1:NM_172389:exon2:c.A90T:p.E30D;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A129T:p.E43D;ENSG00000131196:ENST00000318065:exon2:c.A90T:p.E30D;ENSG00000131196:ENST00000329101:exon2:c.A90T:p.E30D;ENSG00000131196:ENST00000427363:exon2:c.A129T:p.E43D;ENSG00000131196:ENST00000542384:exon2:c.A129T:p.E43D;ENSG00000131196:ENST00000586434:exon2:c.A90T:p.E30D;ENSG00000131196:ENST00000591814:exon2:c.A129T:p.E43D;ENSG00000131196:ENST00000592223:exon2:c.A90T:p.E30D;ENSG00000131196:ENST00000587635:exon2:c.A129T:p.E43D;	1.80484863338614E-5	0.002
18	77171499	G	A	18	79411499	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G1224A:p.M408I;NFATC1:NM_001278672:exon2:c.G1185A:p.M395I;NFATC1:NM_172387:exon2:c.G1185A:p.M395I;NFATC1:NM_006162:exon2:c.G1224A:p.M408I;NFATC1:NM_001278675:exon2:c.G1185A:p.M395I;NFATC1:NM_172390:exon2:c.G1224A:p.M408I;NFATC1:NM_001278670:exon2:c.G1224A:p.M408I;NFATC1:NM_172389:exon2:c.G1185A:p.M395I;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.G1224A:p.M408I;ENSG00000131196:ENST00000318065:exon2:c.G1185A:p.M395I;ENSG00000131196:ENST00000329101:exon2:c.G1185A:p.M395I;ENSG00000131196:ENST00000427363:exon2:c.G1224A:p.M408I;ENSG00000131196:ENST00000542384:exon2:c.G1224A:p.M408I;ENSG00000131196:ENST00000586434:exon2:c.G1185A:p.M395I;ENSG00000131196:ENST00000591814:exon2:c.G1224A:p.M408I;ENSG00000131196:ENST00000592223:exon2:c.G1185A:p.M395I;ENSG00000131196:ENST00000587635:exon2:c.G1224A:p.M408I;	1.20618960835452E-4	0.0
18	77171499	G	C	18	79411499	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G1224C:p.M408I;NFATC1:NM_001278672:exon2:c.G1185C:p.M395I;NFATC1:NM_172387:exon2:c.G1185C:p.M395I;NFATC1:NM_006162:exon2:c.G1224C:p.M408I;NFATC1:NM_001278675:exon2:c.G1185C:p.M395I;NFATC1:NM_172390:exon2:c.G1224C:p.M408I;NFATC1:NM_001278670:exon2:c.G1224C:p.M408I;NFATC1:NM_172389:exon2:c.G1185C:p.M395I;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.G1224C:p.M408I;ENSG00000131196:ENST00000318065:exon2:c.G1185C:p.M395I;ENSG00000131196:ENST00000329101:exon2:c.G1185C:p.M395I;ENSG00000131196:ENST00000427363:exon2:c.G1224C:p.M408I;ENSG00000131196:ENST00000542384:exon2:c.G1224C:p.M408I;ENSG00000131196:ENST00000586434:exon2:c.G1185C:p.M395I;ENSG00000131196:ENST00000591814:exon2:c.G1224C:p.M408I;ENSG00000131196:ENST00000592223:exon2:c.G1185C:p.M395I;ENSG00000131196:ENST00000587635:exon2:c.G1224C:p.M408I;	6.50156234889817E-5	0.002
18	77171499	G	T	18	79411499	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G1224T:p.M408I;NFATC1:NM_001278672:exon2:c.G1185T:p.M395I;NFATC1:NM_172387:exon2:c.G1185T:p.M395I;NFATC1:NM_006162:exon2:c.G1224T:p.M408I;NFATC1:NM_001278675:exon2:c.G1185T:p.M395I;NFATC1:NM_172390:exon2:c.G1224T:p.M408I;NFATC1:NM_001278670:exon2:c.G1224T:p.M408I;NFATC1:NM_172389:exon2:c.G1185T:p.M395I;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.G1224T:p.M408I;ENSG00000131196:ENST00000318065:exon2:c.G1185T:p.M395I;ENSG00000131196:ENST00000329101:exon2:c.G1185T:p.M395I;ENSG00000131196:ENST00000427363:exon2:c.G1224T:p.M408I;ENSG00000131196:ENST00000542384:exon2:c.G1224T:p.M408I;ENSG00000131196:ENST00000586434:exon2:c.G1185T:p.M395I;ENSG00000131196:ENST00000591814:exon2:c.G1224T:p.M408I;ENSG00000131196:ENST00000592223:exon2:c.G1185T:p.M395I;ENSG00000131196:ENST00000587635:exon2:c.G1224T:p.M408I;	2.01822315083798E-4	0.038
18	77171500	A	C	18	79411500	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.A1225C:p.S409R;NFATC1:NM_001278672:exon2:c.A1186C:p.S396R;NFATC1:NM_172387:exon2:c.A1186C:p.S396R;NFATC1:NM_006162:exon2:c.A1225C:p.S409R;NFATC1:NM_001278675:exon2:c.A1186C:p.S396R;NFATC1:NM_172390:exon2:c.A1225C:p.S409R;NFATC1:NM_001278670:exon2:c.A1225C:p.S409R;NFATC1:NM_172389:exon2:c.A1186C:p.S396R;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A1225C:p.S409R;ENSG00000131196:ENST00000318065:exon2:c.A1186C:p.S396R;ENSG00000131196:ENST00000329101:exon2:c.A1186C:p.S396R;ENSG00000131196:ENST00000427363:exon2:c.A1225C:p.S409R;ENSG00000131196:ENST00000542384:exon2:c.A1225C:p.S409R;ENSG00000131196:ENST00000586434:exon2:c.A1186C:p.S396R;ENSG00000131196:ENST00000591814:exon2:c.A1225C:p.S409R;ENSG00000131196:ENST00000592223:exon2:c.A1186C:p.S396R;ENSG00000131196:ENST00000587635:exon2:c.A1225C:p.S409R;	0.825958243136989	0.652
18	77171500	A	G	18	79411500	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.A1225G:p.S409G;NFATC1:NM_001278672:exon2:c.A1186G:p.S396G;NFATC1:NM_172387:exon2:c.A1186G:p.S396G;NFATC1:NM_006162:exon2:c.A1225G:p.S409G;NFATC1:NM_001278675:exon2:c.A1186G:p.S396G;NFATC1:NM_172390:exon2:c.A1225G:p.S409G;NFATC1:NM_001278670:exon2:c.A1225G:p.S409G;NFATC1:NM_172389:exon2:c.A1186G:p.S396G;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A1225G:p.S409G;ENSG00000131196:ENST00000318065:exon2:c.A1186G:p.S396G;ENSG00000131196:ENST00000329101:exon2:c.A1186G:p.S396G;ENSG00000131196:ENST00000427363:exon2:c.A1225G:p.S409G;ENSG00000131196:ENST00000542384:exon2:c.A1225G:p.S409G;ENSG00000131196:ENST00000586434:exon2:c.A1186G:p.S396G;ENSG00000131196:ENST00000591814:exon2:c.A1225G:p.S409G;ENSG00000131196:ENST00000592223:exon2:c.A1186G:p.S396G;ENSG00000131196:ENST00000587635:exon2:c.A1225G:p.S409G;	0.998993132281301	0.97
18	77171500	A	T	18	79411500	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.A1225T:p.S409C;NFATC1:NM_001278672:exon2:c.A1186T:p.S396C;NFATC1:NM_172387:exon2:c.A1186T:p.S396C;NFATC1:NM_006162:exon2:c.A1225T:p.S409C;NFATC1:NM_001278675:exon2:c.A1186T:p.S396C;NFATC1:NM_172390:exon2:c.A1225T:p.S409C;NFATC1:NM_001278670:exon2:c.A1225T:p.S409C;NFATC1:NM_172389:exon2:c.A1186T:p.S396C;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.A1225T:p.S409C;ENSG00000131196:ENST00000318065:exon2:c.A1186T:p.S396C;ENSG00000131196:ENST00000329101:exon2:c.A1186T:p.S396C;ENSG00000131196:ENST00000427363:exon2:c.A1225T:p.S409C;ENSG00000131196:ENST00000542384:exon2:c.A1225T:p.S409C;ENSG00000131196:ENST00000586434:exon2:c.A1186T:p.S396C;ENSG00000131196:ENST00000591814:exon2:c.A1225T:p.S409C;ENSG00000131196:ENST00000592223:exon2:c.A1186T:p.S396C;ENSG00000131196:ENST00000587635:exon2:c.A1225T:p.S409C;	0.999603842814486	0.994
18	77171501	G	A	18	79411501	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G1226A:p.S409N;NFATC1:NM_001278672:exon2:c.G1187A:p.S396N;NFATC1:NM_172387:exon2:c.G1187A:p.S396N;NFATC1:NM_006162:exon2:c.G1226A:p.S409N;NFATC1:NM_001278675:exon2:c.G1187A:p.S396N;NFATC1:NM_172390:exon2:c.G1226A:p.S409N;NFATC1:NM_001278670:exon2:c.G1226A:p.S409N;NFATC1:NM_172389:exon2:c.G1187A:p.S396N;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.G1226A:p.S409N;ENSG00000131196:ENST00000318065:exon2:c.G1187A:p.S396N;ENSG00000131196:ENST00000329101:exon2:c.G1187A:p.S396N;ENSG00000131196:ENST00000427363:exon2:c.G1226A:p.S409N;ENSG00000131196:ENST00000542384:exon2:c.G1226A:p.S409N;ENSG00000131196:ENST00000586434:exon2:c.G1187A:p.S396N;ENSG00000131196:ENST00000591814:exon2:c.G1226A:p.S409N;ENSG00000131196:ENST00000592223:exon2:c.G1187A:p.S396N;ENSG00000131196:ENST00000587635:exon2:c.G1226A:p.S409N;	0.999857088923725	0.978
18	77171501	G	C	18	79411501	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G1226C:p.S409T;NFATC1:NM_001278672:exon2:c.G1187C:p.S396T;NFATC1:NM_172387:exon2:c.G1187C:p.S396T;NFATC1:NM_006162:exon2:c.G1226C:p.S409T;NFATC1:NM_001278675:exon2:c.G1187C:p.S396T;NFATC1:NM_172390:exon2:c.G1226C:p.S409T;NFATC1:NM_001278670:exon2:c.G1226C:p.S409T;NFATC1:NM_172389:exon2:c.G1187C:p.S396T;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.G1226C:p.S409T;ENSG00000131196:ENST00000318065:exon2:c.G1187C:p.S396T;ENSG00000131196:ENST00000329101:exon2:c.G1187C:p.S396T;ENSG00000131196:ENST00000427363:exon2:c.G1226C:p.S409T;ENSG00000131196:ENST00000542384:exon2:c.G1226C:p.S409T;ENSG00000131196:ENST00000586434:exon2:c.G1187C:p.S396T;ENSG00000131196:ENST00000591814:exon2:c.G1226C:p.S409T;ENSG00000131196:ENST00000592223:exon2:c.G1187C:p.S396T;ENSG00000131196:ENST00000587635:exon2:c.G1226C:p.S409T;	0.999858360267841	0.73
18	77171501	G	T	18	79411501	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G1226T:p.S409I;NFATC1:NM_001278672:exon2:c.G1187T:p.S396I;NFATC1:NM_172387:exon2:c.G1187T:p.S396I;NFATC1:NM_006162:exon2:c.G1226T:p.S409I;NFATC1:NM_001278675:exon2:c.G1187T:p.S396I;NFATC1:NM_172390:exon2:c.G1226T:p.S409I;NFATC1:NM_001278670:exon2:c.G1226T:p.S409I;NFATC1:NM_172389:exon2:c.G1187T:p.S396I;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon2:c.G1226T:p.S409I;ENSG00000131196:ENST00000318065:exon2:c.G1187T:p.S396I;ENSG00000131196:ENST00000329101:exon2:c.G1187T:p.S396I;ENSG00000131196:ENST00000427363:exon2:c.G1226T:p.S409I;ENSG00000131196:ENST00000542384:exon2:c.G1226T:p.S409I;ENSG00000131196:ENST00000586434:exon2:c.G1187T:p.S396I;ENSG00000131196:ENST00000591814:exon2:c.G1226T:p.S409I;ENSG00000131196:ENST00000592223:exon2:c.G1187T:p.S396I;ENSG00000131196:ENST00000587635:exon2:c.G1226T:p.S409I;	0.999934402011223	0.98
18	77171502	G	A	18	79411502	y	y	splicing	NFATC1(NM_001278670:exon2:c.1226+1G>A;NM_006162:exon2:c.1226+1G>A;NM_001278669:exon2:c.1226+1G>A;NM_172390:exon2:c.1226+1G>A;NM_172387:exon2:c.1187+1G>A;NM_001278675:exon2:c.1187+1G>A;NM_001278672:exon2:c.1187+1G>A;NM_172389:exon2:c.1187+1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.1226+1G>A;ENST00000591814:exon2:c.1226+1G>A;ENST00000587635:exon2:c.1226+1G>A;ENST00000427363:exon2:c.1226+1G>A;ENST00000542384:exon2:c.1226+1G>A;ENST00000318065:exon2:c.1187+1G>A;ENST00000592223:exon2:c.1187+1G>A;ENST00000329101:exon2:c.1187+1G>A;ENST00000586434:exon2:c.1187+1G>A)	.	.	0.999938422912956	0.936
18	77171502	G	C	18	79411502	y	y	splicing	NFATC1(NM_001278670:exon2:c.1226+1G>C;NM_006162:exon2:c.1226+1G>C;NM_001278669:exon2:c.1226+1G>C;NM_172390:exon2:c.1226+1G>C;NM_172387:exon2:c.1187+1G>C;NM_001278675:exon2:c.1187+1G>C;NM_001278672:exon2:c.1187+1G>C;NM_172389:exon2:c.1187+1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.1226+1G>C;ENST00000591814:exon2:c.1226+1G>C;ENST00000587635:exon2:c.1226+1G>C;ENST00000427363:exon2:c.1226+1G>C;ENST00000542384:exon2:c.1226+1G>C;ENST00000318065:exon2:c.1187+1G>C;ENST00000592223:exon2:c.1187+1G>C;ENST00000329101:exon2:c.1187+1G>C;ENST00000586434:exon2:c.1187+1G>C)	.	.	0.999938422912956	0.938
18	77171502	G	T	18	79411502	y	y	splicing	NFATC1(NM_001278670:exon2:c.1226+1G>T;NM_006162:exon2:c.1226+1G>T;NM_001278669:exon2:c.1226+1G>T;NM_172390:exon2:c.1226+1G>T;NM_172387:exon2:c.1187+1G>T;NM_001278675:exon2:c.1187+1G>T;NM_001278672:exon2:c.1187+1G>T;NM_172389:exon2:c.1187+1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.1226+1G>T;ENST00000591814:exon2:c.1226+1G>T;ENST00000587635:exon2:c.1226+1G>T;ENST00000427363:exon2:c.1226+1G>T;ENST00000542384:exon2:c.1226+1G>T;ENST00000318065:exon2:c.1187+1G>T;ENST00000592223:exon2:c.1187+1G>T;ENST00000329101:exon2:c.1187+1G>T;ENST00000586434:exon2:c.1187+1G>T)	.	.	0.999938422912956	0.938
18	77171503	T	A	18	79411503	y	y	splicing	NFATC1(NM_001278670:exon2:c.1226+2T>A;NM_006162:exon2:c.1226+2T>A;NM_001278669:exon2:c.1226+2T>A;NM_172390:exon2:c.1226+2T>A;NM_172387:exon2:c.1187+2T>A;NM_001278675:exon2:c.1187+2T>A;NM_001278672:exon2:c.1187+2T>A;NM_172389:exon2:c.1187+2T>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.1226+2T>A;ENST00000591814:exon2:c.1226+2T>A;ENST00000587635:exon2:c.1226+2T>A;ENST00000427363:exon2:c.1226+2T>A;ENST00000542384:exon2:c.1226+2T>A;ENST00000318065:exon2:c.1187+2T>A;ENST00000592223:exon2:c.1187+2T>A;ENST00000329101:exon2:c.1187+2T>A;ENST00000586434:exon2:c.1187+2T>A)	.	.	0.999966514958823	0.914
18	77171503	T	C	18	79411503	y	y	splicing	NFATC1(NM_001278670:exon2:c.1226+2T>C;NM_006162:exon2:c.1226+2T>C;NM_001278669:exon2:c.1226+2T>C;NM_172390:exon2:c.1226+2T>C;NM_172387:exon2:c.1187+2T>C;NM_001278675:exon2:c.1187+2T>C;NM_001278672:exon2:c.1187+2T>C;NM_172389:exon2:c.1187+2T>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.1226+2T>C;ENST00000591814:exon2:c.1226+2T>C;ENST00000587635:exon2:c.1226+2T>C;ENST00000427363:exon2:c.1226+2T>C;ENST00000542384:exon2:c.1226+2T>C;ENST00000318065:exon2:c.1187+2T>C;ENST00000592223:exon2:c.1187+2T>C;ENST00000329101:exon2:c.1187+2T>C;ENST00000586434:exon2:c.1187+2T>C)	.	.	0.999909165406784	0.9
18	77171503	T	G	18	79411503	y	y	splicing	NFATC1(NM_001278670:exon2:c.1226+2T>G;NM_006162:exon2:c.1226+2T>G;NM_001278669:exon2:c.1226+2T>G;NM_172390:exon2:c.1226+2T>G;NM_172387:exon2:c.1187+2T>G;NM_001278675:exon2:c.1187+2T>G;NM_001278672:exon2:c.1187+2T>G;NM_172389:exon2:c.1187+2T>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon2:c.1226+2T>G;ENST00000591814:exon2:c.1226+2T>G;ENST00000587635:exon2:c.1226+2T>G;ENST00000427363:exon2:c.1226+2T>G;ENST00000542384:exon2:c.1226+2T>G;ENST00000318065:exon2:c.1187+2T>G;ENST00000592223:exon2:c.1187+2T>G;ENST00000329101:exon2:c.1187+2T>G;ENST00000586434:exon2:c.1187+2T>G)	.	.	0.999978156327223	0.934
18	77171504	G	A	18	79411504	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.46011108690579E-5	0.0
18	77171504	G	C	18	79411504	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0682773955992967	0.338
18	77171504	G	T	18	79411504	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.094440205858077	0.27
18	77171505	A	C	18	79411505	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.665455479863437	0.444
18	77171505	A	G	18	79411505	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.824343383167025	0.608
18	77171505	A	T	18	79411505	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.962660836477832	0.694
18	77171506	G	A	18	79411506	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.998369510528944	0.882
18	77171506	G	C	18	79411506	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.998974740855041	0.846
18	77171506	G	T	18	79411506	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.99846744077932	0.906
18	77171507	C	A	18	79411507	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.38907868860959E-4	0.014
18	77171507	C	G	18	79411507	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.29019223108262E-4	0.024
18	77171507	C	T	18	79411507	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.73688778528699E-5	0.006
18	77171508	C	A	18	79411508	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.34303792003554E-5	0.002
18	77171508	C	G	18	79411508	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.23792963964061E-5	0.002
18	77171508	C	T	18	79411508	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.57281371371786E-5	0.002
18	77171509	G	A	18	79411509	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00137943398927361	0.06
18	77171509	G	C	18	79411509	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00103608117995986	0.048
18	77171509	G	T	18	79411509	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00137943398927361	0.05
18	77193567	G	A	18	79433567	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.2488107820261E-4	0.07
18	77193567	G	C	18	79433567	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.07042567709262E-4	0.0
18	77193567	G	T	18	79433567	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.26994570931644E-4	0.002
18	77193568	T	A	18	79433568	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00824499309876792	0.23
18	77193568	T	C	18	79433568	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00246831730671819	0.05
18	77193568	T	G	18	79433568	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00373006891512614	0.152
18	77193569	T	A	18	79433569	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00480218207924288	0.116
18	77193569	T	C	18	79433569	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.07223805433433E-4	0.004
18	77193569	T	G	18	79433569	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.07401358137609E-4	0.056
18	77193570	C	A	18	79433570	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.74782744792488E-4	0.024
18	77193570	C	G	18	79433570	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.26078885897721E-4	0.008
18	77193570	C	T	18	79433570	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.06698643269816E-5	0.0
18	77193571	C	A	18	79433571	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00185093811840669	0.038
18	77193571	C	G	18	79433571	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.91546145492772E-4	0.02
18	77193571	C	T	18	79433571	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.16718317192922E-5	0.0
18	77193572	C	A	18	79433572	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.10496802145972E-5	0.034
18	77193572	C	G	18	79433572	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.10496802145972E-5	0.02
18	77193572	C	T	18	79433572	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.40747511851349E-5	0.01
18	77193573	T	A	18	79433573	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00949368408421659	0.148
18	77193573	T	C	18	79433573	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.06543166408558E-5	0.018
18	77193573	T	G	18	79433573	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00734955744280976	0.196
18	77193574	T	A	18	79433574	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0104693128056639	0.308
18	77193574	T	C	18	79433574	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.8242330110249E-4	0.016
18	77193574	T	G	18	79433574	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00456403905926716	0.264
18	77193575	C	A	18	79433575	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.15013127162789E-5	0.0
18	77193575	C	G	18	79433575	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.79560615636569E-5	0.0
18	77193575	C	T	18	79433575	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.15013127162789E-5	0.0
18	77193576	C	A	18	79433576	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.716126158934607	0.526
18	77193576	C	G	18	79433576	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.997498389955718	0.912
18	77193576	C	T	18	79433576	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00662167862157447	0.142
18	77193577	A	C	18	79433577	y	y	splicing	NFATC1(NM_001278670:exon3:c.1227-2A>C;NM_006162:exon3:c.1227-2A>C;NM_001278669:exon3:c.1227-2A>C;NM_172390:exon3:c.1227-2A>C;NM_172387:exon3:c.1188-2A>C;NM_001278675:exon3:c.1188-2A>C;NM_001278672:exon3:c.1188-2A>C;NM_172389:exon3:c.1188-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1227-2A>C;ENST00000591814:exon3:c.1227-2A>C;ENST00000587635:exon3:c.1227-2A>C;ENST00000427363:exon3:c.1227-2A>C;ENST00000542384:exon3:c.1227-2A>C;ENST00000318065:exon3:c.1188-2A>C;ENST00000590313:exon2:c.89-2A>C;ENST00000592223:exon3:c.1188-2A>C;ENST00000329101:exon3:c.1188-2A>C;ENST00000586434:exon3:c.1188-2A>C)	.	.	0.999978672009528	0.934
18	77193577	A	G	18	79433577	y	y	splicing	NFATC1(NM_001278670:exon3:c.1227-2A>G;NM_006162:exon3:c.1227-2A>G;NM_001278669:exon3:c.1227-2A>G;NM_172390:exon3:c.1227-2A>G;NM_172387:exon3:c.1188-2A>G;NM_001278675:exon3:c.1188-2A>G;NM_001278672:exon3:c.1188-2A>G;NM_172389:exon3:c.1188-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1227-2A>G;ENST00000591814:exon3:c.1227-2A>G;ENST00000587635:exon3:c.1227-2A>G;ENST00000427363:exon3:c.1227-2A>G;ENST00000542384:exon3:c.1227-2A>G;ENST00000318065:exon3:c.1188-2A>G;ENST00000590313:exon2:c.89-2A>G;ENST00000592223:exon3:c.1188-2A>G;ENST00000329101:exon3:c.1188-2A>G;ENST00000586434:exon3:c.1188-2A>G)	.	.	0.999978672009528	0.934
18	77193577	A	T	18	79433577	y	y	splicing	NFATC1(NM_001278670:exon3:c.1227-2A>T;NM_006162:exon3:c.1227-2A>T;NM_001278669:exon3:c.1227-2A>T;NM_172390:exon3:c.1227-2A>T;NM_172387:exon3:c.1188-2A>T;NM_001278675:exon3:c.1188-2A>T;NM_001278672:exon3:c.1188-2A>T;NM_172389:exon3:c.1188-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1227-2A>T;ENST00000591814:exon3:c.1227-2A>T;ENST00000587635:exon3:c.1227-2A>T;ENST00000427363:exon3:c.1227-2A>T;ENST00000542384:exon3:c.1227-2A>T;ENST00000318065:exon3:c.1188-2A>T;ENST00000590313:exon2:c.89-2A>T;ENST00000592223:exon3:c.1188-2A>T;ENST00000329101:exon3:c.1188-2A>T;ENST00000586434:exon3:c.1188-2A>T)	.	.	0.999967305459904	0.938
18	77193578	G	A	18	79433578	y	y	splicing	NFATC1(NM_001278670:exon3:c.1227-1G>A;NM_006162:exon3:c.1227-1G>A;NM_001278669:exon3:c.1227-1G>A;NM_172390:exon3:c.1227-1G>A;NM_172387:exon3:c.1188-1G>A;NM_001278675:exon3:c.1188-1G>A;NM_001278672:exon3:c.1188-1G>A;NM_172389:exon3:c.1188-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1227-1G>A;ENST00000591814:exon3:c.1227-1G>A;ENST00000587635:exon3:c.1227-1G>A;ENST00000427363:exon3:c.1227-1G>A;ENST00000542384:exon3:c.1227-1G>A;ENST00000318065:exon3:c.1188-1G>A;ENST00000590313:exon2:c.89-1G>A;ENST00000592223:exon3:c.1188-1G>A;ENST00000329101:exon3:c.1188-1G>A;ENST00000586434:exon3:c.1188-1G>A)	.	.	0.999938990645747	0.944
18	77193578	G	C	18	79433578	y	y	splicing	NFATC1(NM_001278670:exon3:c.1227-1G>C;NM_006162:exon3:c.1227-1G>C;NM_001278669:exon3:c.1227-1G>C;NM_172390:exon3:c.1227-1G>C;NM_172387:exon3:c.1188-1G>C;NM_001278675:exon3:c.1188-1G>C;NM_001278672:exon3:c.1188-1G>C;NM_172389:exon3:c.1188-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1227-1G>C;ENST00000591814:exon3:c.1227-1G>C;ENST00000587635:exon3:c.1227-1G>C;ENST00000427363:exon3:c.1227-1G>C;ENST00000542384:exon3:c.1227-1G>C;ENST00000318065:exon3:c.1188-1G>C;ENST00000590313:exon2:c.89-1G>C;ENST00000592223:exon3:c.1188-1G>C;ENST00000329101:exon3:c.1188-1G>C;ENST00000586434:exon3:c.1188-1G>C)	.	.	0.999960200702261	0.936
18	77193578	G	T	18	79433578	y	y	splicing	NFATC1(NM_001278670:exon3:c.1227-1G>T;NM_006162:exon3:c.1227-1G>T;NM_001278669:exon3:c.1227-1G>T;NM_172390:exon3:c.1227-1G>T;NM_172387:exon3:c.1188-1G>T;NM_001278675:exon3:c.1188-1G>T;NM_001278672:exon3:c.1188-1G>T;NM_172389:exon3:c.1188-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1227-1G>T;ENST00000591814:exon3:c.1227-1G>T;ENST00000587635:exon3:c.1227-1G>T;ENST00000427363:exon3:c.1227-1G>T;ENST00000542384:exon3:c.1227-1G>T;ENST00000318065:exon3:c.1188-1G>T;ENST00000590313:exon2:c.89-1G>T;ENST00000592223:exon3:c.1188-1G>T;ENST00000329101:exon3:c.1188-1G>T;ENST00000586434:exon3:c.1188-1G>T)	.	.	0.999938990645747	0.938
18	77193579	C	A	18	79433579	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.C1227A:p.S409R;NFATC1:NM_001278672:exon3:c.C1188A:p.S396R;NFATC1:NM_172387:exon3:c.C1188A:p.S396R;NFATC1:NM_006162:exon3:c.C1227A:p.S409R;NFATC1:NM_001278675:exon3:c.C1188A:p.S396R;NFATC1:NM_172390:exon3:c.C1227A:p.S409R;NFATC1:NM_001278670:exon3:c.C1227A:p.S409R;NFATC1:NM_172389:exon3:c.C1188A:p.S396R;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.C1227A:p.S409R;ENSG00000131196:ENST00000318065:exon3:c.C1188A:p.S396R;ENSG00000131196:ENST00000329101:exon3:c.C1188A:p.S396R;ENSG00000131196:ENST00000427363:exon3:c.C1227A:p.S409R;ENSG00000131196:ENST00000542384:exon3:c.C1227A:p.S409R;ENSG00000131196:ENST00000586434:exon3:c.C1188A:p.S396R;ENSG00000131196:ENST00000591814:exon3:c.C1227A:p.S409R;ENSG00000131196:ENST00000592223:exon3:c.C1188A:p.S396R;ENSG00000131196:ENST00000587635:exon3:c.C1227A:p.S409R;ENSG00000131196:ENST00000590313:exon2:c.C89A:p.A30D;	4.82505773176022E-4	0.006
18	77193579	C	G	18	79433579	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.C1227G:p.S409R;NFATC1:NM_001278672:exon3:c.C1188G:p.S396R;NFATC1:NM_172387:exon3:c.C1188G:p.S396R;NFATC1:NM_006162:exon3:c.C1227G:p.S409R;NFATC1:NM_001278675:exon3:c.C1188G:p.S396R;NFATC1:NM_172390:exon3:c.C1227G:p.S409R;NFATC1:NM_001278670:exon3:c.C1227G:p.S409R;NFATC1:NM_172389:exon3:c.C1188G:p.S396R;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.C1227G:p.S409R;ENSG00000131196:ENST00000318065:exon3:c.C1188G:p.S396R;ENSG00000131196:ENST00000329101:exon3:c.C1188G:p.S396R;ENSG00000131196:ENST00000427363:exon3:c.C1227G:p.S409R;ENSG00000131196:ENST00000542384:exon3:c.C1227G:p.S409R;ENSG00000131196:ENST00000586434:exon3:c.C1188G:p.S396R;ENSG00000131196:ENST00000591814:exon3:c.C1227G:p.S409R;ENSG00000131196:ENST00000592223:exon3:c.C1188G:p.S396R;ENSG00000131196:ENST00000587635:exon3:c.C1227G:p.S409R;ENSG00000131196:ENST00000590313:exon2:c.C89G:p.A30G;	5.3993688850208E-4	0.106
18	77193579	C	T	18	79433579	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon3:c.C1227T:p.S409S;NFATC1:NM_001278672:exon3:c.C1188T:p.S396S;NFATC1:NM_172387:exon3:c.C1188T:p.S396S;NFATC1:NM_006162:exon3:c.C1227T:p.S409S;NFATC1:NM_001278675:exon3:c.C1188T:p.S396S;NFATC1:NM_172390:exon3:c.C1227T:p.S409S;NFATC1:NM_001278670:exon3:c.C1227T:p.S409S;NFATC1:NM_172389:exon3:c.C1188T:p.S396S;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000590313:exon2:c.C89T:p.A30V;	9.408107643483E-4	0.114
18	77193580	C	A	18	79433580	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.C1228A:p.P410T;NFATC1:NM_001278672:exon3:c.C1189A:p.P397T;NFATC1:NM_172387:exon3:c.C1189A:p.P397T;NFATC1:NM_006162:exon3:c.C1228A:p.P410T;NFATC1:NM_001278675:exon3:c.C1189A:p.P397T;NFATC1:NM_172390:exon3:c.C1228A:p.P410T;NFATC1:NM_001278670:exon3:c.C1228A:p.P410T;NFATC1:NM_172389:exon3:c.C1189A:p.P397T;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.C1228A:p.P410T;ENSG00000131196:ENST00000318065:exon3:c.C1189A:p.P397T;ENSG00000131196:ENST00000329101:exon3:c.C1189A:p.P397T;ENSG00000131196:ENST00000427363:exon3:c.C1228A:p.P410T;ENSG00000131196:ENST00000542384:exon3:c.C1228A:p.P410T;ENSG00000131196:ENST00000586434:exon3:c.C1189A:p.P397T;ENSG00000131196:ENST00000591814:exon3:c.C1228A:p.P410T;ENSG00000131196:ENST00000592223:exon3:c.C1189A:p.P397T;ENSG00000131196:ENST00000587635:exon3:c.C1228A:p.P410T;	0.0026340651284935	0.036
18	77193580	C	G	18	79433580	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.C1228G:p.P410A;NFATC1:NM_001278672:exon3:c.C1189G:p.P397A;NFATC1:NM_172387:exon3:c.C1189G:p.P397A;NFATC1:NM_006162:exon3:c.C1228G:p.P410A;NFATC1:NM_001278675:exon3:c.C1189G:p.P397A;NFATC1:NM_172390:exon3:c.C1228G:p.P410A;NFATC1:NM_001278670:exon3:c.C1228G:p.P410A;NFATC1:NM_172389:exon3:c.C1189G:p.P397A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.C1228G:p.P410A;ENSG00000131196:ENST00000318065:exon3:c.C1189G:p.P397A;ENSG00000131196:ENST00000329101:exon3:c.C1189G:p.P397A;ENSG00000131196:ENST00000427363:exon3:c.C1228G:p.P410A;ENSG00000131196:ENST00000542384:exon3:c.C1228G:p.P410A;ENSG00000131196:ENST00000586434:exon3:c.C1189G:p.P397A;ENSG00000131196:ENST00000591814:exon3:c.C1228G:p.P410A;ENSG00000131196:ENST00000592223:exon3:c.C1189G:p.P397A;ENSG00000131196:ENST00000587635:exon3:c.C1228G:p.P410A;	5.0121644133958E-4	0.024
18	77193580	C	T	18	79433580	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.C1228T:p.P410S;NFATC1:NM_001278672:exon3:c.C1189T:p.P397S;NFATC1:NM_172387:exon3:c.C1189T:p.P397S;NFATC1:NM_006162:exon3:c.C1228T:p.P410S;NFATC1:NM_001278675:exon3:c.C1189T:p.P397S;NFATC1:NM_172390:exon3:c.C1228T:p.P410S;NFATC1:NM_001278670:exon3:c.C1228T:p.P410S;NFATC1:NM_172389:exon3:c.C1189T:p.P397S;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.C1228T:p.P410S;ENSG00000131196:ENST00000318065:exon3:c.C1189T:p.P397S;ENSG00000131196:ENST00000329101:exon3:c.C1189T:p.P397S;ENSG00000131196:ENST00000427363:exon3:c.C1228T:p.P410S;ENSG00000131196:ENST00000542384:exon3:c.C1228T:p.P410S;ENSG00000131196:ENST00000586434:exon3:c.C1189T:p.P397S;ENSG00000131196:ENST00000591814:exon3:c.C1228T:p.P410S;ENSG00000131196:ENST00000592223:exon3:c.C1189T:p.P397S;ENSG00000131196:ENST00000587635:exon3:c.C1228T:p.P410S;	2.0765091444629E-4	0.014
18	77193736	C	A	18	79433736	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.C1384A:p.Q462K;NFATC1:NM_001278672:exon3:c.C1345A:p.Q449K;NFATC1:NM_172387:exon3:c.C1345A:p.Q449K;NFATC1:NM_006162:exon3:c.C1384A:p.Q462K;NFATC1:NM_001278675:exon3:c.C1345A:p.Q449K;NFATC1:NM_172390:exon3:c.C1384A:p.Q462K;NFATC1:NM_001278670:exon3:c.C1384A:p.Q462K;NFATC1:NM_172389:exon3:c.C1345A:p.Q449K;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.C1384A:p.Q462K;ENSG00000131196:ENST00000318065:exon3:c.C1345A:p.Q449K;ENSG00000131196:ENST00000329101:exon3:c.C1345A:p.Q449K;ENSG00000131196:ENST00000427363:exon3:c.C1384A:p.Q462K;ENSG00000131196:ENST00000542384:exon3:c.C1384A:p.Q462K;ENSG00000131196:ENST00000586434:exon3:c.C1345A:p.Q449K;ENSG00000131196:ENST00000591814:exon3:c.C1384A:p.Q462K;ENSG00000131196:ENST00000592223:exon3:c.C1345A:p.Q449K;ENSG00000131196:ENST00000587635:exon3:c.C1384A:p.Q462K;	0.00239184359892258	0.092
18	77193736	C	G	18	79433736	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.C1384G:p.Q462E;NFATC1:NM_001278672:exon3:c.C1345G:p.Q449E;NFATC1:NM_172387:exon3:c.C1345G:p.Q449E;NFATC1:NM_006162:exon3:c.C1384G:p.Q462E;NFATC1:NM_001278675:exon3:c.C1345G:p.Q449E;NFATC1:NM_172390:exon3:c.C1384G:p.Q462E;NFATC1:NM_001278670:exon3:c.C1384G:p.Q462E;NFATC1:NM_172389:exon3:c.C1345G:p.Q449E;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.C1384G:p.Q462E;ENSG00000131196:ENST00000318065:exon3:c.C1345G:p.Q449E;ENSG00000131196:ENST00000329101:exon3:c.C1345G:p.Q449E;ENSG00000131196:ENST00000427363:exon3:c.C1384G:p.Q462E;ENSG00000131196:ENST00000542384:exon3:c.C1384G:p.Q462E;ENSG00000131196:ENST00000586434:exon3:c.C1345G:p.Q449E;ENSG00000131196:ENST00000591814:exon3:c.C1384G:p.Q462E;ENSG00000131196:ENST00000592223:exon3:c.C1345G:p.Q449E;ENSG00000131196:ENST00000587635:exon3:c.C1384G:p.Q462E;	0.174391595469517	0.338
18	77193736	C	T	18	79433736	y	y	exonic	NFATC1	stopgain SNV	NFATC1:NM_001278669:exon3:c.C1384T:p.Q462X;NFATC1:NM_001278672:exon3:c.C1345T:p.Q449X;NFATC1:NM_172387:exon3:c.C1345T:p.Q449X;NFATC1:NM_006162:exon3:c.C1384T:p.Q462X;NFATC1:NM_001278675:exon3:c.C1345T:p.Q449X;NFATC1:NM_172390:exon3:c.C1384T:p.Q462X;NFATC1:NM_001278670:exon3:c.C1384T:p.Q462X;NFATC1:NM_172389:exon3:c.C1345T:p.Q449X;	exonic	ENSG00000131196	stopgain SNV	ENSG00000131196:ENST00000253506:exon3:c.C1384T:p.Q462X;ENSG00000131196:ENST00000318065:exon3:c.C1345T:p.Q449X;ENSG00000131196:ENST00000329101:exon3:c.C1345T:p.Q449X;ENSG00000131196:ENST00000427363:exon3:c.C1384T:p.Q462X;ENSG00000131196:ENST00000542384:exon3:c.C1384T:p.Q462X;ENSG00000131196:ENST00000586434:exon3:c.C1345T:p.Q449X;ENSG00000131196:ENST00000591814:exon3:c.C1384T:p.Q462X;ENSG00000131196:ENST00000592223:exon3:c.C1345T:p.Q449X;ENSG00000131196:ENST00000587635:exon3:c.C1384T:p.Q462X;	0.99051293915326	0.904
18	77193737	A	C	18	79433737	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.A1385C:p.Q462P;NFATC1:NM_001278672:exon3:c.A1346C:p.Q449P;NFATC1:NM_172387:exon3:c.A1346C:p.Q449P;NFATC1:NM_006162:exon3:c.A1385C:p.Q462P;NFATC1:NM_001278675:exon3:c.A1346C:p.Q449P;NFATC1:NM_172390:exon3:c.A1385C:p.Q462P;NFATC1:NM_001278670:exon3:c.A1385C:p.Q462P;NFATC1:NM_172389:exon3:c.A1346C:p.Q449P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.A1385C:p.Q462P;ENSG00000131196:ENST00000318065:exon3:c.A1346C:p.Q449P;ENSG00000131196:ENST00000329101:exon3:c.A1346C:p.Q449P;ENSG00000131196:ENST00000427363:exon3:c.A1385C:p.Q462P;ENSG00000131196:ENST00000542384:exon3:c.A1385C:p.Q462P;ENSG00000131196:ENST00000586434:exon3:c.A1346C:p.Q449P;ENSG00000131196:ENST00000591814:exon3:c.A1385C:p.Q462P;ENSG00000131196:ENST00000592223:exon3:c.A1346C:p.Q449P;ENSG00000131196:ENST00000587635:exon3:c.A1385C:p.Q462P;	0.999566845598027	0.972
18	77193737	A	G	18	79433737	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.A1385G:p.Q462R;NFATC1:NM_001278672:exon3:c.A1346G:p.Q449R;NFATC1:NM_172387:exon3:c.A1346G:p.Q449R;NFATC1:NM_006162:exon3:c.A1385G:p.Q462R;NFATC1:NM_001278675:exon3:c.A1346G:p.Q449R;NFATC1:NM_172390:exon3:c.A1385G:p.Q462R;NFATC1:NM_001278670:exon3:c.A1385G:p.Q462R;NFATC1:NM_172389:exon3:c.A1346G:p.Q449R;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.A1385G:p.Q462R;ENSG00000131196:ENST00000318065:exon3:c.A1346G:p.Q449R;ENSG00000131196:ENST00000329101:exon3:c.A1346G:p.Q449R;ENSG00000131196:ENST00000427363:exon3:c.A1385G:p.Q462R;ENSG00000131196:ENST00000542384:exon3:c.A1385G:p.Q462R;ENSG00000131196:ENST00000586434:exon3:c.A1346G:p.Q449R;ENSG00000131196:ENST00000591814:exon3:c.A1385G:p.Q462R;ENSG00000131196:ENST00000592223:exon3:c.A1346G:p.Q449R;ENSG00000131196:ENST00000587635:exon3:c.A1385G:p.Q462R;	0.999588965961068	0.988
18	77193737	A	T	18	79433737	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.A1385T:p.Q462L;NFATC1:NM_001278672:exon3:c.A1346T:p.Q449L;NFATC1:NM_172387:exon3:c.A1346T:p.Q449L;NFATC1:NM_006162:exon3:c.A1385T:p.Q462L;NFATC1:NM_001278675:exon3:c.A1346T:p.Q449L;NFATC1:NM_172390:exon3:c.A1385T:p.Q462L;NFATC1:NM_001278670:exon3:c.A1385T:p.Q462L;NFATC1:NM_172389:exon3:c.A1346T:p.Q449L;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.A1385T:p.Q462L;ENSG00000131196:ENST00000318065:exon3:c.A1346T:p.Q449L;ENSG00000131196:ENST00000329101:exon3:c.A1346T:p.Q449L;ENSG00000131196:ENST00000427363:exon3:c.A1385T:p.Q462L;ENSG00000131196:ENST00000542384:exon3:c.A1385T:p.Q462L;ENSG00000131196:ENST00000586434:exon3:c.A1346T:p.Q449L;ENSG00000131196:ENST00000591814:exon3:c.A1385T:p.Q462L;ENSG00000131196:ENST00000592223:exon3:c.A1346T:p.Q449L;ENSG00000131196:ENST00000587635:exon3:c.A1385T:p.Q462L;	0.998884147445403	0.99
18	77193738	G	A	18	79433738	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon3:c.G1386A:p.Q462Q;NFATC1:NM_001278672:exon3:c.G1347A:p.Q449Q;NFATC1:NM_172387:exon3:c.G1347A:p.Q449Q;NFATC1:NM_006162:exon3:c.G1386A:p.Q462Q;NFATC1:NM_001278675:exon3:c.G1347A:p.Q449Q;NFATC1:NM_172390:exon3:c.G1386A:p.Q462Q;NFATC1:NM_001278670:exon3:c.G1386A:p.Q462Q;NFATC1:NM_172389:exon3:c.G1347A:p.Q449Q;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.G1386A:p.Q462Q;ENSG00000131196:ENST00000318065:exon3:c.G1347A:p.Q449Q;ENSG00000131196:ENST00000329101:exon3:c.G1347A:p.Q449Q;ENSG00000131196:ENST00000427363:exon3:c.G1386A:p.Q462Q;ENSG00000131196:ENST00000542384:exon3:c.G1386A:p.Q462Q;ENSG00000131196:ENST00000586434:exon3:c.G1347A:p.Q449Q;ENSG00000131196:ENST00000591814:exon3:c.G1386A:p.Q462Q;ENSG00000131196:ENST00000592223:exon3:c.G1347A:p.Q449Q;ENSG00000131196:ENST00000587635:exon3:c.G1386A:p.Q462Q;	0.999745196591178	0.944
18	77193738	G	C	18	79433738	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.G1386C:p.Q462H;NFATC1:NM_001278672:exon3:c.G1347C:p.Q449H;NFATC1:NM_172387:exon3:c.G1347C:p.Q449H;NFATC1:NM_006162:exon3:c.G1386C:p.Q462H;NFATC1:NM_001278675:exon3:c.G1347C:p.Q449H;NFATC1:NM_172390:exon3:c.G1386C:p.Q462H;NFATC1:NM_001278670:exon3:c.G1386C:p.Q462H;NFATC1:NM_172389:exon3:c.G1347C:p.Q449H;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.G1386C:p.Q462H;ENSG00000131196:ENST00000318065:exon3:c.G1347C:p.Q449H;ENSG00000131196:ENST00000329101:exon3:c.G1347C:p.Q449H;ENSG00000131196:ENST00000427363:exon3:c.G1386C:p.Q462H;ENSG00000131196:ENST00000542384:exon3:c.G1386C:p.Q462H;ENSG00000131196:ENST00000586434:exon3:c.G1347C:p.Q449H;ENSG00000131196:ENST00000591814:exon3:c.G1386C:p.Q462H;ENSG00000131196:ENST00000592223:exon3:c.G1347C:p.Q449H;ENSG00000131196:ENST00000587635:exon3:c.G1386C:p.Q462H;	0.999993254024719	0.936
18	77193738	G	T	18	79433738	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon3:c.G1386T:p.Q462H;NFATC1:NM_001278672:exon3:c.G1347T:p.Q449H;NFATC1:NM_172387:exon3:c.G1347T:p.Q449H;NFATC1:NM_006162:exon3:c.G1386T:p.Q462H;NFATC1:NM_001278675:exon3:c.G1347T:p.Q449H;NFATC1:NM_172390:exon3:c.G1386T:p.Q462H;NFATC1:NM_001278670:exon3:c.G1386T:p.Q462H;NFATC1:NM_172389:exon3:c.G1347T:p.Q449H;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon3:c.G1386T:p.Q462H;ENSG00000131196:ENST00000318065:exon3:c.G1347T:p.Q449H;ENSG00000131196:ENST00000329101:exon3:c.G1347T:p.Q449H;ENSG00000131196:ENST00000427363:exon3:c.G1386T:p.Q462H;ENSG00000131196:ENST00000542384:exon3:c.G1386T:p.Q462H;ENSG00000131196:ENST00000586434:exon3:c.G1347T:p.Q449H;ENSG00000131196:ENST00000591814:exon3:c.G1386T:p.Q462H;ENSG00000131196:ENST00000592223:exon3:c.G1347T:p.Q449H;ENSG00000131196:ENST00000587635:exon3:c.G1386T:p.Q462H;	0.999976489203972	0.996
18	77193739	G	A	18	79433739	y	y	splicing	NFATC1(NM_001278670:exon3:c.1386+1G>A;NM_006162:exon3:c.1386+1G>A;NM_001278669:exon3:c.1386+1G>A;NM_172390:exon3:c.1386+1G>A;NM_172387:exon3:c.1347+1G>A;NM_001278675:exon3:c.1347+1G>A;NM_001278672:exon3:c.1347+1G>A;NM_172389:exon3:c.1347+1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1386+1G>A;ENST00000591814:exon3:c.1386+1G>A;ENST00000587635:exon3:c.1386+1G>A;ENST00000427363:exon3:c.1386+1G>A;ENST00000542384:exon3:c.1386+1G>A;ENST00000318065:exon3:c.1347+1G>A;ENST00000590313:exon2:c.248+1G>A;ENST00000592223:exon3:c.1347+1G>A;ENST00000329101:exon3:c.1347+1G>A;ENST00000586434:exon3:c.1347+1G>A)	.	.	0.999961682427198	0.948
18	77193739	G	C	18	79433739	y	y	splicing	NFATC1(NM_001278670:exon3:c.1386+1G>C;NM_006162:exon3:c.1386+1G>C;NM_001278669:exon3:c.1386+1G>C;NM_172390:exon3:c.1386+1G>C;NM_172387:exon3:c.1347+1G>C;NM_001278675:exon3:c.1347+1G>C;NM_001278672:exon3:c.1347+1G>C;NM_172389:exon3:c.1347+1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1386+1G>C;ENST00000591814:exon3:c.1386+1G>C;ENST00000587635:exon3:c.1386+1G>C;ENST00000427363:exon3:c.1386+1G>C;ENST00000542384:exon3:c.1386+1G>C;ENST00000318065:exon3:c.1347+1G>C;ENST00000590313:exon2:c.248+1G>C;ENST00000592223:exon3:c.1347+1G>C;ENST00000329101:exon3:c.1347+1G>C;ENST00000586434:exon3:c.1347+1G>C)	.	.	0.999962035718413	0.948
18	77193739	G	T	18	79433739	y	y	splicing	NFATC1(NM_001278670:exon3:c.1386+1G>T;NM_006162:exon3:c.1386+1G>T;NM_001278669:exon3:c.1386+1G>T;NM_172390:exon3:c.1386+1G>T;NM_172387:exon3:c.1347+1G>T;NM_001278675:exon3:c.1347+1G>T;NM_001278672:exon3:c.1347+1G>T;NM_172389:exon3:c.1347+1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1386+1G>T;ENST00000591814:exon3:c.1386+1G>T;ENST00000587635:exon3:c.1386+1G>T;ENST00000427363:exon3:c.1386+1G>T;ENST00000542384:exon3:c.1386+1G>T;ENST00000318065:exon3:c.1347+1G>T;ENST00000590313:exon2:c.248+1G>T;ENST00000592223:exon3:c.1347+1G>T;ENST00000329101:exon3:c.1347+1G>T;ENST00000586434:exon3:c.1347+1G>T)	.	.	0.999961682427198	0.948
18	77193740	T	A	18	79433740	y	y	splicing	NFATC1(NM_001278670:exon3:c.1386+2T>A;NM_006162:exon3:c.1386+2T>A;NM_001278669:exon3:c.1386+2T>A;NM_172390:exon3:c.1386+2T>A;NM_172387:exon3:c.1347+2T>A;NM_001278675:exon3:c.1347+2T>A;NM_001278672:exon3:c.1347+2T>A;NM_172389:exon3:c.1347+2T>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1386+2T>A;ENST00000591814:exon3:c.1386+2T>A;ENST00000587635:exon3:c.1386+2T>A;ENST00000427363:exon3:c.1386+2T>A;ENST00000542384:exon3:c.1386+2T>A;ENST00000318065:exon3:c.1347+2T>A;ENST00000590313:exon2:c.248+2T>A;ENST00000592223:exon3:c.1347+2T>A;ENST00000329101:exon3:c.1347+2T>A;ENST00000586434:exon3:c.1347+2T>A)	.	.	0.999967305459904	0.944
18	77193740	T	C	18	79433740	y	y	splicing	NFATC1(NM_001278670:exon3:c.1386+2T>C;NM_006162:exon3:c.1386+2T>C;NM_001278669:exon3:c.1386+2T>C;NM_172390:exon3:c.1386+2T>C;NM_172387:exon3:c.1347+2T>C;NM_001278675:exon3:c.1347+2T>C;NM_001278672:exon3:c.1347+2T>C;NM_172389:exon3:c.1347+2T>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1386+2T>C;ENST00000591814:exon3:c.1386+2T>C;ENST00000587635:exon3:c.1386+2T>C;ENST00000427363:exon3:c.1386+2T>C;ENST00000542384:exon3:c.1386+2T>C;ENST00000318065:exon3:c.1347+2T>C;ENST00000590313:exon2:c.248+2T>C;ENST00000592223:exon3:c.1347+2T>C;ENST00000329101:exon3:c.1347+2T>C;ENST00000586434:exon3:c.1347+2T>C)	.	.	0.948858833725253	0.57
18	77193740	T	G	18	79433740	y	y	splicing	NFATC1(NM_001278670:exon3:c.1386+2T>G;NM_006162:exon3:c.1386+2T>G;NM_001278669:exon3:c.1386+2T>G;NM_172390:exon3:c.1386+2T>G;NM_172387:exon3:c.1347+2T>G;NM_001278675:exon3:c.1347+2T>G;NM_001278672:exon3:c.1347+2T>G;NM_172389:exon3:c.1347+2T>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon3:c.1386+2T>G;ENST00000591814:exon3:c.1386+2T>G;ENST00000587635:exon3:c.1386+2T>G;ENST00000427363:exon3:c.1386+2T>G;ENST00000542384:exon3:c.1386+2T>G;ENST00000318065:exon3:c.1347+2T>G;ENST00000590313:exon2:c.248+2T>G;ENST00000592223:exon3:c.1347+2T>G;ENST00000329101:exon3:c.1347+2T>G;ENST00000586434:exon3:c.1347+2T>G)	.	.	0.999967305459904	0.938
18	77193741	A	C	18	79433741	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.84345372224393	0.704
18	77193741	A	G	18	79433741	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00675257069398962	0.138
18	77193741	A	T	18	79433741	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.930615032413807	0.702
18	77193742	G	A	18	79433742	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.81034263846471E-4	0.082
18	77193742	G	C	18	79433742	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.76999261531025E-5	0.018
18	77193742	G	T	18	79433742	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.77215956675333E-5	0.014
18	77193743	G	A	18	79433743	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.259768551249263	0.302
18	77193743	G	C	18	79433743	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.668097694475659	0.354
18	77193743	G	T	18	79433743	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.840519142598101	0.386
18	77193744	C	A	18	79433744	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.51232114457867E-5	0.0
18	77193744	C	G	18	79433744	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.2395016500376E-5	0.022
18	77193744	C	T	18	79433744	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.08968436393553E-5	0.016
18	77193745	A	C	18	79433745	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.87544548170259E-5	0.0
18	77193745	A	G	18	79433745	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.07465301650683E-5	0.004
18	77193745	A	T	18	79433745	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.17116429407774E-4	0.0
18	77193746	C	A	18	79433746	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.64665666709041E-5	0.0
18	77193746	C	G	18	79433746	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.02739665967895E-5	0.002
18	77193746	C	T	18	79433746	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.23341000440089E-4	0.0
18	77208770	T	A	18	79448770	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0223389985311413	0.23
18	77208770	T	C	18	79448770	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.03837790647339E-4	0.026
18	77208770	T	G	18	79448770	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0419285936554599	0.218
18	77208771	T	A	18	79448771	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.451938524163904	0.518
18	77208771	T	C	18	79448771	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0574605642626052	0.22
18	77208771	T	G	18	79448771	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.341463751278944	0.442
18	77208772	C	A	18	79448772	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.23732653350367E-4	0.026
18	77208772	C	G	18	79448772	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.33196620435953E-4	0.018
18	77208772	C	T	18	79448772	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.16082603961528E-5	0.0
18	77208773	T	A	18	79448773	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.492633755543764	0.446
18	77208773	T	C	18	79448773	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.08100382076723E-4	0.072
18	77208773	T	G	18	79448773	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.149702785977176	0.302
18	77208774	C	A	18	79448774	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.64946008673307E-4	0.07
18	77208774	C	G	18	79448774	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.43849868609909E-4	0.054
18	77208774	C	T	18	79448774	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.07825541733219E-5	0.006
18	77208775	T	A	18	79448775	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00282905287939533	0.198
18	77208775	T	C	18	79448775	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.72547517890754E-5	0.008
18	77208775	T	G	18	79448775	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00177651675189055	0.204
18	77208776	C	A	18	79448776	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.987967383441442	0.812
18	77208776	C	G	18	79448776	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.08949794114172E-4	0.042
18	77208776	C	T	18	79448776	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.9635797136504E-5	0.0
18	77208777	G	A	18	79448777	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.41037687723409E-5	0.006
18	77208777	G	C	18	79448777	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.21050492325583E-5	0.0
18	77208777	G	T	18	79448777	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.37163326501772E-5	0.0
18	77208778	C	A	18	79448778	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.09969706521283E-5	0.0
18	77208778	C	G	18	79448778	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.30746835405838E-5	0.0
18	77208778	C	T	18	79448778	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.45146818738906E-5	0.01
18	77208779	C	A	18	79448779	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.977447400272099	0.764
18	77208779	C	G	18	79448779	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.989549134714816	0.952
18	77208779	C	T	18	79448779	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00736402322795335	0.152
18	77208780	A	C	18	79448780	y	y	splicing	NFATC1(NM_001278670:exon4:c.1387-2A>C;NM_006162:exon4:c.1387-2A>C;NM_001278669:exon4:c.1387-2A>C;NM_172390:exon4:c.1387-2A>C;NM_172387:exon4:c.1348-2A>C;NM_001278675:exon4:c.1348-2A>C;NM_001278672:exon4:c.1348-2A>C;NM_172389:exon4:c.1348-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1387-2A>C;ENST00000591814:exon4:c.1387-2A>C;ENST00000587635:exon4:c.1387-2A>C;ENST00000427363:exon4:c.1387-2A>C;ENST00000542384:exon4:c.1387-2A>C;ENST00000318065:exon4:c.1348-2A>C;ENST00000590313:exon3:c.249-2A>C;ENST00000592223:exon4:c.1348-2A>C;ENST00000329101:exon4:c.1348-2A>C;ENST00000586434:exon4:c.1348-2A>C)	.	.	0.999982151912279	0.896
18	77208780	A	G	18	79448780	y	y	splicing	NFATC1(NM_001278670:exon4:c.1387-2A>G;NM_006162:exon4:c.1387-2A>G;NM_001278669:exon4:c.1387-2A>G;NM_172390:exon4:c.1387-2A>G;NM_172387:exon4:c.1348-2A>G;NM_001278675:exon4:c.1348-2A>G;NM_001278672:exon4:c.1348-2A>G;NM_172389:exon4:c.1348-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1387-2A>G;ENST00000591814:exon4:c.1387-2A>G;ENST00000587635:exon4:c.1387-2A>G;ENST00000427363:exon4:c.1387-2A>G;ENST00000542384:exon4:c.1387-2A>G;ENST00000318065:exon4:c.1348-2A>G;ENST00000590313:exon3:c.249-2A>G;ENST00000592223:exon4:c.1348-2A>G;ENST00000329101:exon4:c.1348-2A>G;ENST00000586434:exon4:c.1348-2A>G)	.	.	0.999982151912279	0.896
18	77208780	A	T	18	79448780	y	y	splicing	NFATC1(NM_001278670:exon4:c.1387-2A>T;NM_006162:exon4:c.1387-2A>T;NM_001278669:exon4:c.1387-2A>T;NM_172390:exon4:c.1387-2A>T;NM_172387:exon4:c.1348-2A>T;NM_001278675:exon4:c.1348-2A>T;NM_001278672:exon4:c.1348-2A>T;NM_172389:exon4:c.1348-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1387-2A>T;ENST00000591814:exon4:c.1387-2A>T;ENST00000587635:exon4:c.1387-2A>T;ENST00000427363:exon4:c.1387-2A>T;ENST00000542384:exon4:c.1387-2A>T;ENST00000318065:exon4:c.1348-2A>T;ENST00000590313:exon3:c.249-2A>T;ENST00000592223:exon4:c.1348-2A>T;ENST00000329101:exon4:c.1348-2A>T;ENST00000586434:exon4:c.1348-2A>T)	.	.	0.999978672009528	0.932
18	77208781	G	A	18	79448781	y	y	splicing	NFATC1(NM_001278670:exon4:c.1387-1G>A;NM_006162:exon4:c.1387-1G>A;NM_001278669:exon4:c.1387-1G>A;NM_172390:exon4:c.1387-1G>A;NM_172387:exon4:c.1348-1G>A;NM_001278675:exon4:c.1348-1G>A;NM_001278672:exon4:c.1348-1G>A;NM_172389:exon4:c.1348-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1387-1G>A;ENST00000591814:exon4:c.1387-1G>A;ENST00000587635:exon4:c.1387-1G>A;ENST00000427363:exon4:c.1387-1G>A;ENST00000542384:exon4:c.1387-1G>A;ENST00000318065:exon4:c.1348-1G>A;ENST00000590313:exon3:c.249-1G>A;ENST00000592223:exon4:c.1348-1G>A;ENST00000329101:exon4:c.1348-1G>A;ENST00000586434:exon4:c.1348-1G>A)	.	.	0.999960200702261	0.942
18	77208781	G	C	18	79448781	y	y	splicing	NFATC1(NM_001278670:exon4:c.1387-1G>C;NM_006162:exon4:c.1387-1G>C;NM_001278669:exon4:c.1387-1G>C;NM_172390:exon4:c.1387-1G>C;NM_172387:exon4:c.1348-1G>C;NM_001278675:exon4:c.1348-1G>C;NM_001278672:exon4:c.1348-1G>C;NM_172389:exon4:c.1348-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1387-1G>C;ENST00000591814:exon4:c.1387-1G>C;ENST00000587635:exon4:c.1387-1G>C;ENST00000427363:exon4:c.1387-1G>C;ENST00000542384:exon4:c.1387-1G>C;ENST00000318065:exon4:c.1348-1G>C;ENST00000590313:exon3:c.249-1G>C;ENST00000592223:exon4:c.1348-1G>C;ENST00000329101:exon4:c.1348-1G>C;ENST00000586434:exon4:c.1348-1G>C)	.	.	0.999958812450268	0.94
18	77208781	G	T	18	79448781	y	y	splicing	NFATC1(NM_001278670:exon4:c.1387-1G>T;NM_006162:exon4:c.1387-1G>T;NM_001278669:exon4:c.1387-1G>T;NM_172390:exon4:c.1387-1G>T;NM_172387:exon4:c.1348-1G>T;NM_001278675:exon4:c.1348-1G>T;NM_001278672:exon4:c.1348-1G>T;NM_172389:exon4:c.1348-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1387-1G>T;ENST00000591814:exon4:c.1387-1G>T;ENST00000587635:exon4:c.1387-1G>T;ENST00000427363:exon4:c.1387-1G>T;ENST00000542384:exon4:c.1387-1G>T;ENST00000318065:exon4:c.1348-1G>T;ENST00000590313:exon3:c.249-1G>T;ENST00000592223:exon4:c.1348-1G>T;ENST00000329101:exon4:c.1348-1G>T;ENST00000586434:exon4:c.1348-1G>T)	.	.	0.999960200702261	0.942
18	77208782	C	A	18	79448782	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.C1387A:p.L463M;NFATC1:NM_001278672:exon4:c.C1348A:p.L450M;NFATC1:NM_172387:exon4:c.C1348A:p.L450M;NFATC1:NM_006162:exon4:c.C1387A:p.L463M;NFATC1:NM_001278675:exon4:c.C1348A:p.L450M;NFATC1:NM_172390:exon4:c.C1387A:p.L463M;NFATC1:NM_001278670:exon4:c.C1387A:p.L463M;NFATC1:NM_172389:exon4:c.C1348A:p.L450M;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.C1387A:p.L463M;ENSG00000131196:ENST00000318065:exon4:c.C1348A:p.L450M;ENSG00000131196:ENST00000329101:exon4:c.C1348A:p.L450M;ENSG00000131196:ENST00000427363:exon4:c.C1387A:p.L463M;ENSG00000131196:ENST00000542384:exon4:c.C1387A:p.L463M;ENSG00000131196:ENST00000586434:exon4:c.C1348A:p.L450M;ENSG00000131196:ENST00000591814:exon4:c.C1387A:p.L463M;ENSG00000131196:ENST00000592223:exon4:c.C1348A:p.L450M;ENSG00000131196:ENST00000587635:exon4:c.C1387A:p.L463M;	0.0801970930614607	0.39
18	77208782	C	G	18	79448782	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.C1387G:p.L463V;NFATC1:NM_001278672:exon4:c.C1348G:p.L450V;NFATC1:NM_172387:exon4:c.C1348G:p.L450V;NFATC1:NM_006162:exon4:c.C1387G:p.L463V;NFATC1:NM_001278675:exon4:c.C1348G:p.L450V;NFATC1:NM_172390:exon4:c.C1387G:p.L463V;NFATC1:NM_001278670:exon4:c.C1387G:p.L463V;NFATC1:NM_172389:exon4:c.C1348G:p.L450V;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.C1387G:p.L463V;ENSG00000131196:ENST00000318065:exon4:c.C1348G:p.L450V;ENSG00000131196:ENST00000329101:exon4:c.C1348G:p.L450V;ENSG00000131196:ENST00000427363:exon4:c.C1387G:p.L463V;ENSG00000131196:ENST00000542384:exon4:c.C1387G:p.L463V;ENSG00000131196:ENST00000586434:exon4:c.C1348G:p.L450V;ENSG00000131196:ENST00000591814:exon4:c.C1387G:p.L463V;ENSG00000131196:ENST00000592223:exon4:c.C1348G:p.L450V;ENSG00000131196:ENST00000587635:exon4:c.C1387G:p.L463V;	0.00263600453562917	0.062
18	77208782	C	T	18	79448782	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon4:c.C1387T:p.L463L;NFATC1:NM_001278672:exon4:c.C1348T:p.L450L;NFATC1:NM_172387:exon4:c.C1348T:p.L450L;NFATC1:NM_006162:exon4:c.C1387T:p.L463L;NFATC1:NM_001278675:exon4:c.C1348T:p.L450L;NFATC1:NM_172390:exon4:c.C1387T:p.L463L;NFATC1:NM_001278670:exon4:c.C1387T:p.L463L;NFATC1:NM_172389:exon4:c.C1348T:p.L450L;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.C1387T:p.L463L;ENSG00000131196:ENST00000318065:exon4:c.C1348T:p.L450L;ENSG00000131196:ENST00000329101:exon4:c.C1348T:p.L450L;ENSG00000131196:ENST00000427363:exon4:c.C1387T:p.L463L;ENSG00000131196:ENST00000542384:exon4:c.C1387T:p.L463L;ENSG00000131196:ENST00000586434:exon4:c.C1348T:p.L450L;ENSG00000131196:ENST00000591814:exon4:c.C1387T:p.L463L;ENSG00000131196:ENST00000592223:exon4:c.C1348T:p.L450L;ENSG00000131196:ENST00000587635:exon4:c.C1387T:p.L463L;	7.92075880416899E-4	0.11
18	77208783	T	A	18	79448783	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.T1388A:p.L463Q;NFATC1:NM_001278672:exon4:c.T1349A:p.L450Q;NFATC1:NM_172387:exon4:c.T1349A:p.L450Q;NFATC1:NM_006162:exon4:c.T1388A:p.L463Q;NFATC1:NM_001278675:exon4:c.T1349A:p.L450Q;NFATC1:NM_172390:exon4:c.T1388A:p.L463Q;NFATC1:NM_001278670:exon4:c.T1388A:p.L463Q;NFATC1:NM_172389:exon4:c.T1349A:p.L450Q;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.T1388A:p.L463Q;ENSG00000131196:ENST00000318065:exon4:c.T1349A:p.L450Q;ENSG00000131196:ENST00000329101:exon4:c.T1349A:p.L450Q;ENSG00000131196:ENST00000427363:exon4:c.T1388A:p.L463Q;ENSG00000131196:ENST00000542384:exon4:c.T1388A:p.L463Q;ENSG00000131196:ENST00000586434:exon4:c.T1349A:p.L450Q;ENSG00000131196:ENST00000591814:exon4:c.T1388A:p.L463Q;ENSG00000131196:ENST00000592223:exon4:c.T1349A:p.L450Q;ENSG00000131196:ENST00000587635:exon4:c.T1388A:p.L463Q;	0.344650891155005	0.37
18	77208783	T	C	18	79448783	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.T1388C:p.L463P;NFATC1:NM_001278672:exon4:c.T1349C:p.L450P;NFATC1:NM_172387:exon4:c.T1349C:p.L450P;NFATC1:NM_006162:exon4:c.T1388C:p.L463P;NFATC1:NM_001278675:exon4:c.T1349C:p.L450P;NFATC1:NM_172390:exon4:c.T1388C:p.L463P;NFATC1:NM_001278670:exon4:c.T1388C:p.L463P;NFATC1:NM_172389:exon4:c.T1349C:p.L450P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.T1388C:p.L463P;ENSG00000131196:ENST00000318065:exon4:c.T1349C:p.L450P;ENSG00000131196:ENST00000329101:exon4:c.T1349C:p.L450P;ENSG00000131196:ENST00000427363:exon4:c.T1388C:p.L463P;ENSG00000131196:ENST00000542384:exon4:c.T1388C:p.L463P;ENSG00000131196:ENST00000586434:exon4:c.T1349C:p.L450P;ENSG00000131196:ENST00000591814:exon4:c.T1388C:p.L463P;ENSG00000131196:ENST00000592223:exon4:c.T1349C:p.L450P;ENSG00000131196:ENST00000587635:exon4:c.T1388C:p.L463P;	0.0735100186216239	0.318
18	77208783	T	G	18	79448783	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.T1388G:p.L463R;NFATC1:NM_001278672:exon4:c.T1349G:p.L450R;NFATC1:NM_172387:exon4:c.T1349G:p.L450R;NFATC1:NM_006162:exon4:c.T1388G:p.L463R;NFATC1:NM_001278675:exon4:c.T1349G:p.L450R;NFATC1:NM_172390:exon4:c.T1388G:p.L463R;NFATC1:NM_001278670:exon4:c.T1388G:p.L463R;NFATC1:NM_172389:exon4:c.T1349G:p.L450R;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.T1388G:p.L463R;ENSG00000131196:ENST00000318065:exon4:c.T1349G:p.L450R;ENSG00000131196:ENST00000329101:exon4:c.T1349G:p.L450R;ENSG00000131196:ENST00000427363:exon4:c.T1388G:p.L463R;ENSG00000131196:ENST00000542384:exon4:c.T1388G:p.L463R;ENSG00000131196:ENST00000586434:exon4:c.T1349G:p.L450R;ENSG00000131196:ENST00000591814:exon4:c.T1388G:p.L463R;ENSG00000131196:ENST00000592223:exon4:c.T1349G:p.L450R;ENSG00000131196:ENST00000587635:exon4:c.T1388G:p.L463R;	0.036556890893784	0.308
18	77208982	C	A	18	79448982	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon4:c.C1587A:p.A529A;NFATC1:NM_001278672:exon4:c.C1548A:p.A516A;NFATC1:NM_172387:exon4:c.C1548A:p.A516A;NFATC1:NM_001278673:exon3:c.C171A:p.A57A;NFATC1:NM_006162:exon4:c.C1587A:p.A529A;NFATC1:NM_001278675:exon4:c.C1548A:p.A516A;NFATC1:NM_172388:exon3:c.C171A:p.A57A;NFATC1:NM_172390:exon4:c.C1587A:p.A529A;NFATC1:NM_001278670:exon4:c.C1587A:p.A529A;NFATC1:NM_172389:exon4:c.C1548A:p.A516A;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.C1587A:p.A529A;ENSG00000131196:ENST00000318065:exon4:c.C1548A:p.A516A;ENSG00000131196:ENST00000329101:exon4:c.C1548A:p.A516A;ENSG00000131196:ENST00000427363:exon4:c.C1587A:p.A529A;ENSG00000131196:ENST00000542384:exon4:c.C1587A:p.A529A;ENSG00000131196:ENST00000586434:exon4:c.C1548A:p.A516A;ENSG00000131196:ENST00000591814:exon4:c.C1587A:p.A529A;ENSG00000131196:ENST00000397790:exon3:c.C171A:p.A57A;ENSG00000131196:ENST00000545796:exon3:c.C171A:p.A57A;ENSG00000131196:ENST00000592223:exon4:c.C1548A:p.A516A;ENSG00000131196:ENST00000587635:exon4:c.C1587A:p.A529A;	1.24012681985212E-4	0.01
18	77208982	C	G	18	79448982	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon4:c.C1587G:p.A529A;NFATC1:NM_001278672:exon4:c.C1548G:p.A516A;NFATC1:NM_172387:exon4:c.C1548G:p.A516A;NFATC1:NM_001278673:exon3:c.C171G:p.A57A;NFATC1:NM_006162:exon4:c.C1587G:p.A529A;NFATC1:NM_001278675:exon4:c.C1548G:p.A516A;NFATC1:NM_172388:exon3:c.C171G:p.A57A;NFATC1:NM_172390:exon4:c.C1587G:p.A529A;NFATC1:NM_001278670:exon4:c.C1587G:p.A529A;NFATC1:NM_172389:exon4:c.C1548G:p.A516A;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.C1587G:p.A529A;ENSG00000131196:ENST00000318065:exon4:c.C1548G:p.A516A;ENSG00000131196:ENST00000329101:exon4:c.C1548G:p.A516A;ENSG00000131196:ENST00000427363:exon4:c.C1587G:p.A529A;ENSG00000131196:ENST00000542384:exon4:c.C1587G:p.A529A;ENSG00000131196:ENST00000586434:exon4:c.C1548G:p.A516A;ENSG00000131196:ENST00000591814:exon4:c.C1587G:p.A529A;ENSG00000131196:ENST00000397790:exon3:c.C171G:p.A57A;ENSG00000131196:ENST00000545796:exon3:c.C171G:p.A57A;ENSG00000131196:ENST00000592223:exon4:c.C1548G:p.A516A;ENSG00000131196:ENST00000587635:exon4:c.C1587G:p.A529A;	7.56890926780642E-4	0.124
18	77208982	C	T	18	79448982	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon4:c.C1587T:p.A529A;NFATC1:NM_001278672:exon4:c.C1548T:p.A516A;NFATC1:NM_172387:exon4:c.C1548T:p.A516A;NFATC1:NM_001278673:exon3:c.C171T:p.A57A;NFATC1:NM_006162:exon4:c.C1587T:p.A529A;NFATC1:NM_001278675:exon4:c.C1548T:p.A516A;NFATC1:NM_172388:exon3:c.C171T:p.A57A;NFATC1:NM_172390:exon4:c.C1587T:p.A529A;NFATC1:NM_001278670:exon4:c.C1587T:p.A529A;NFATC1:NM_172389:exon4:c.C1548T:p.A516A;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.C1587T:p.A529A;ENSG00000131196:ENST00000318065:exon4:c.C1548T:p.A516A;ENSG00000131196:ENST00000329101:exon4:c.C1548T:p.A516A;ENSG00000131196:ENST00000427363:exon4:c.C1587T:p.A529A;ENSG00000131196:ENST00000542384:exon4:c.C1587T:p.A529A;ENSG00000131196:ENST00000586434:exon4:c.C1548T:p.A516A;ENSG00000131196:ENST00000591814:exon4:c.C1587T:p.A529A;ENSG00000131196:ENST00000397790:exon3:c.C171T:p.A57A;ENSG00000131196:ENST00000545796:exon3:c.C171T:p.A57A;ENSG00000131196:ENST00000592223:exon4:c.C1548T:p.A516A;ENSG00000131196:ENST00000587635:exon4:c.C1587T:p.A529A;	0.00485302186748192	0.282
18	77208983	G	A	18	79448983	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.G1588A:p.V530I;NFATC1:NM_001278672:exon4:c.G1549A:p.V517I;NFATC1:NM_172387:exon4:c.G1549A:p.V517I;NFATC1:NM_001278673:exon3:c.G172A:p.V58I;NFATC1:NM_006162:exon4:c.G1588A:p.V530I;NFATC1:NM_001278675:exon4:c.G1549A:p.V517I;NFATC1:NM_172388:exon3:c.G172A:p.V58I;NFATC1:NM_172390:exon4:c.G1588A:p.V530I;NFATC1:NM_001278670:exon4:c.G1588A:p.V530I;NFATC1:NM_172389:exon4:c.G1549A:p.V517I;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.G1588A:p.V530I;ENSG00000131196:ENST00000318065:exon4:c.G1549A:p.V517I;ENSG00000131196:ENST00000329101:exon4:c.G1549A:p.V517I;ENSG00000131196:ENST00000427363:exon4:c.G1588A:p.V530I;ENSG00000131196:ENST00000542384:exon4:c.G1588A:p.V530I;ENSG00000131196:ENST00000586434:exon4:c.G1549A:p.V517I;ENSG00000131196:ENST00000591814:exon4:c.G1588A:p.V530I;ENSG00000131196:ENST00000397790:exon3:c.G172A:p.V58I;ENSG00000131196:ENST00000545796:exon3:c.G172A:p.V58I;ENSG00000131196:ENST00000592223:exon4:c.G1549A:p.V517I;ENSG00000131196:ENST00000587635:exon4:c.G1588A:p.V530I;	1.84076330854848E-4	0.026
18	77208983	G	C	18	79448983	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.G1588C:p.V530L;NFATC1:NM_001278672:exon4:c.G1549C:p.V517L;NFATC1:NM_172387:exon4:c.G1549C:p.V517L;NFATC1:NM_001278673:exon3:c.G172C:p.V58L;NFATC1:NM_006162:exon4:c.G1588C:p.V530L;NFATC1:NM_001278675:exon4:c.G1549C:p.V517L;NFATC1:NM_172388:exon3:c.G172C:p.V58L;NFATC1:NM_172390:exon4:c.G1588C:p.V530L;NFATC1:NM_001278670:exon4:c.G1588C:p.V530L;NFATC1:NM_172389:exon4:c.G1549C:p.V517L;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.G1588C:p.V530L;ENSG00000131196:ENST00000318065:exon4:c.G1549C:p.V517L;ENSG00000131196:ENST00000329101:exon4:c.G1549C:p.V517L;ENSG00000131196:ENST00000427363:exon4:c.G1588C:p.V530L;ENSG00000131196:ENST00000542384:exon4:c.G1588C:p.V530L;ENSG00000131196:ENST00000586434:exon4:c.G1549C:p.V517L;ENSG00000131196:ENST00000591814:exon4:c.G1588C:p.V530L;ENSG00000131196:ENST00000397790:exon3:c.G172C:p.V58L;ENSG00000131196:ENST00000545796:exon3:c.G172C:p.V58L;ENSG00000131196:ENST00000592223:exon4:c.G1549C:p.V517L;ENSG00000131196:ENST00000587635:exon4:c.G1588C:p.V530L;	0.0010091675847798	0.044
18	77208983	G	T	18	79448983	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.G1588T:p.V530F;NFATC1:NM_001278672:exon4:c.G1549T:p.V517F;NFATC1:NM_172387:exon4:c.G1549T:p.V517F;NFATC1:NM_001278673:exon3:c.G172T:p.V58F;NFATC1:NM_006162:exon4:c.G1588T:p.V530F;NFATC1:NM_001278675:exon4:c.G1549T:p.V517F;NFATC1:NM_172388:exon3:c.G172T:p.V58F;NFATC1:NM_172390:exon4:c.G1588T:p.V530F;NFATC1:NM_001278670:exon4:c.G1588T:p.V530F;NFATC1:NM_172389:exon4:c.G1549T:p.V517F;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.G1588T:p.V530F;ENSG00000131196:ENST00000318065:exon4:c.G1549T:p.V517F;ENSG00000131196:ENST00000329101:exon4:c.G1549T:p.V517F;ENSG00000131196:ENST00000427363:exon4:c.G1588T:p.V530F;ENSG00000131196:ENST00000542384:exon4:c.G1588T:p.V530F;ENSG00000131196:ENST00000586434:exon4:c.G1549T:p.V517F;ENSG00000131196:ENST00000591814:exon4:c.G1588T:p.V530F;ENSG00000131196:ENST00000397790:exon3:c.G172T:p.V58F;ENSG00000131196:ENST00000545796:exon3:c.G172T:p.V58F;ENSG00000131196:ENST00000592223:exon4:c.G1549T:p.V517F;ENSG00000131196:ENST00000587635:exon4:c.G1588T:p.V530F;	0.00122635703635029	0.046
18	77208984	T	A	18	79448984	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.T1589A:p.V530D;NFATC1:NM_001278672:exon4:c.T1550A:p.V517D;NFATC1:NM_172387:exon4:c.T1550A:p.V517D;NFATC1:NM_001278673:exon3:c.T173A:p.V58D;NFATC1:NM_006162:exon4:c.T1589A:p.V530D;NFATC1:NM_001278675:exon4:c.T1550A:p.V517D;NFATC1:NM_172388:exon3:c.T173A:p.V58D;NFATC1:NM_172390:exon4:c.T1589A:p.V530D;NFATC1:NM_001278670:exon4:c.T1589A:p.V530D;NFATC1:NM_172389:exon4:c.T1550A:p.V517D;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.T1589A:p.V530D;ENSG00000131196:ENST00000318065:exon4:c.T1550A:p.V517D;ENSG00000131196:ENST00000329101:exon4:c.T1550A:p.V517D;ENSG00000131196:ENST00000427363:exon4:c.T1589A:p.V530D;ENSG00000131196:ENST00000542384:exon4:c.T1589A:p.V530D;ENSG00000131196:ENST00000586434:exon4:c.T1550A:p.V517D;ENSG00000131196:ENST00000591814:exon4:c.T1589A:p.V530D;ENSG00000131196:ENST00000397790:exon3:c.T173A:p.V58D;ENSG00000131196:ENST00000545796:exon3:c.T173A:p.V58D;ENSG00000131196:ENST00000592223:exon4:c.T1550A:p.V517D;ENSG00000131196:ENST00000587635:exon4:c.T1589A:p.V530D;	1.09216684369165E-4	0.02
18	77208984	T	C	18	79448984	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.T1589C:p.V530A;NFATC1:NM_001278672:exon4:c.T1550C:p.V517A;NFATC1:NM_172387:exon4:c.T1550C:p.V517A;NFATC1:NM_001278673:exon3:c.T173C:p.V58A;NFATC1:NM_006162:exon4:c.T1589C:p.V530A;NFATC1:NM_001278675:exon4:c.T1550C:p.V517A;NFATC1:NM_172388:exon3:c.T173C:p.V58A;NFATC1:NM_172390:exon4:c.T1589C:p.V530A;NFATC1:NM_001278670:exon4:c.T1589C:p.V530A;NFATC1:NM_172389:exon4:c.T1550C:p.V517A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.T1589C:p.V530A;ENSG00000131196:ENST00000318065:exon4:c.T1550C:p.V517A;ENSG00000131196:ENST00000329101:exon4:c.T1550C:p.V517A;ENSG00000131196:ENST00000427363:exon4:c.T1589C:p.V530A;ENSG00000131196:ENST00000542384:exon4:c.T1589C:p.V530A;ENSG00000131196:ENST00000586434:exon4:c.T1550C:p.V517A;ENSG00000131196:ENST00000591814:exon4:c.T1589C:p.V530A;ENSG00000131196:ENST00000397790:exon3:c.T173C:p.V58A;ENSG00000131196:ENST00000545796:exon3:c.T173C:p.V58A;ENSG00000131196:ENST00000592223:exon4:c.T1550C:p.V517A;ENSG00000131196:ENST00000587635:exon4:c.T1589C:p.V530A;	6.40420662019024E-5	0.066
18	77208984	T	G	18	79448984	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon4:c.T1589G:p.V530G;NFATC1:NM_001278672:exon4:c.T1550G:p.V517G;NFATC1:NM_172387:exon4:c.T1550G:p.V517G;NFATC1:NM_001278673:exon3:c.T173G:p.V58G;NFATC1:NM_006162:exon4:c.T1589G:p.V530G;NFATC1:NM_001278675:exon4:c.T1550G:p.V517G;NFATC1:NM_172388:exon3:c.T173G:p.V58G;NFATC1:NM_172390:exon4:c.T1589G:p.V530G;NFATC1:NM_001278670:exon4:c.T1589G:p.V530G;NFATC1:NM_172389:exon4:c.T1550G:p.V517G;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon4:c.T1589G:p.V530G;ENSG00000131196:ENST00000318065:exon4:c.T1550G:p.V517G;ENSG00000131196:ENST00000329101:exon4:c.T1550G:p.V517G;ENSG00000131196:ENST00000427363:exon4:c.T1589G:p.V530G;ENSG00000131196:ENST00000542384:exon4:c.T1589G:p.V530G;ENSG00000131196:ENST00000586434:exon4:c.T1550G:p.V517G;ENSG00000131196:ENST00000591814:exon4:c.T1589G:p.V530G;ENSG00000131196:ENST00000397790:exon3:c.T173G:p.V58G;ENSG00000131196:ENST00000545796:exon3:c.T173G:p.V58G;ENSG00000131196:ENST00000592223:exon4:c.T1550G:p.V517G;ENSG00000131196:ENST00000587635:exon4:c.T1589G:p.V530G;	7.55447458502387E-5	0.012
18	77208985	G	A	18	79448985	y	y	splicing	NFATC1(NM_001278670:exon4:c.1589+1G>A;NM_006162:exon4:c.1589+1G>A;NM_172388:exon3:c.173+1G>A;NM_001278669:exon4:c.1589+1G>A;NM_172390:exon4:c.1589+1G>A;NM_172387:exon4:c.1550+1G>A;NM_001278675:exon4:c.1550+1G>A;NM_001278672:exon4:c.1550+1G>A;NM_172389:exon4:c.1550+1G>A;NM_001278673:exon3:c.173+1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1589+1G>A;ENST00000591814:exon4:c.1589+1G>A;ENST00000397790:exon3:c.173+1G>A;ENST00000587635:exon4:c.1589+1G>A;ENST00000427363:exon4:c.1589+1G>A;ENST00000542384:exon4:c.1589+1G>A;ENST00000318065:exon4:c.1550+1G>A;ENST00000545796:exon3:c.173+1G>A;ENST00000590313:exon3:c.451+1G>A;ENST00000592223:exon4:c.1550+1G>A;ENST00000329101:exon4:c.1550+1G>A;ENST00000586434:exon4:c.1550+1G>A)	.	.	0.999967335026411	0.92
18	77208985	G	C	18	79448985	y	y	splicing	NFATC1(NM_001278670:exon4:c.1589+1G>C;NM_006162:exon4:c.1589+1G>C;NM_172388:exon3:c.173+1G>C;NM_001278669:exon4:c.1589+1G>C;NM_172390:exon4:c.1589+1G>C;NM_172387:exon4:c.1550+1G>C;NM_001278675:exon4:c.1550+1G>C;NM_001278672:exon4:c.1550+1G>C;NM_172389:exon4:c.1550+1G>C;NM_001278673:exon3:c.173+1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1589+1G>C;ENST00000591814:exon4:c.1589+1G>C;ENST00000397790:exon3:c.173+1G>C;ENST00000587635:exon4:c.1589+1G>C;ENST00000427363:exon4:c.1589+1G>C;ENST00000542384:exon4:c.1589+1G>C;ENST00000318065:exon4:c.1550+1G>C;ENST00000545796:exon3:c.173+1G>C;ENST00000590313:exon3:c.451+1G>C;ENST00000592223:exon4:c.1550+1G>C;ENST00000329101:exon4:c.1550+1G>C;ENST00000586434:exon4:c.1550+1G>C)	.	.	0.999915710762489	0.922
18	77208985	G	T	18	79448985	y	y	splicing	NFATC1(NM_001278670:exon4:c.1589+1G>T;NM_006162:exon4:c.1589+1G>T;NM_172388:exon3:c.173+1G>T;NM_001278669:exon4:c.1589+1G>T;NM_172390:exon4:c.1589+1G>T;NM_172387:exon4:c.1550+1G>T;NM_001278675:exon4:c.1550+1G>T;NM_001278672:exon4:c.1550+1G>T;NM_172389:exon4:c.1550+1G>T;NM_001278673:exon3:c.173+1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1589+1G>T;ENST00000591814:exon4:c.1589+1G>T;ENST00000397790:exon3:c.173+1G>T;ENST00000587635:exon4:c.1589+1G>T;ENST00000427363:exon4:c.1589+1G>T;ENST00000542384:exon4:c.1589+1G>T;ENST00000318065:exon4:c.1550+1G>T;ENST00000545796:exon3:c.173+1G>T;ENST00000590313:exon3:c.451+1G>T;ENST00000592223:exon4:c.1550+1G>T;ENST00000329101:exon4:c.1550+1G>T;ENST00000586434:exon4:c.1550+1G>T)	.	.	0.999915710762489	0.92
18	77208986	T	A	18	79448986	y	y	splicing	NFATC1(NM_001278670:exon4:c.1589+2T>A;NM_006162:exon4:c.1589+2T>A;NM_172388:exon3:c.173+2T>A;NM_001278669:exon4:c.1589+2T>A;NM_172390:exon4:c.1589+2T>A;NM_172387:exon4:c.1550+2T>A;NM_001278675:exon4:c.1550+2T>A;NM_001278672:exon4:c.1550+2T>A;NM_172389:exon4:c.1550+2T>A;NM_001278673:exon3:c.173+2T>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1589+2T>A;ENST00000591814:exon4:c.1589+2T>A;ENST00000397790:exon3:c.173+2T>A;ENST00000587635:exon4:c.1589+2T>A;ENST00000427363:exon4:c.1589+2T>A;ENST00000542384:exon4:c.1589+2T>A;ENST00000318065:exon4:c.1550+2T>A;ENST00000545796:exon3:c.173+2T>A;ENST00000590313:exon3:c.451+2T>A;ENST00000592223:exon4:c.1550+2T>A;ENST00000329101:exon4:c.1550+2T>A;ENST00000586434:exon4:c.1550+2T>A)	.	.	0.999975706799895	0.912
18	77208986	T	C	18	79448986	y	y	splicing	NFATC1(NM_001278670:exon4:c.1589+2T>C;NM_006162:exon4:c.1589+2T>C;NM_172388:exon3:c.173+2T>C;NM_001278669:exon4:c.1589+2T>C;NM_172390:exon4:c.1589+2T>C;NM_172387:exon4:c.1550+2T>C;NM_001278675:exon4:c.1550+2T>C;NM_001278672:exon4:c.1550+2T>C;NM_172389:exon4:c.1550+2T>C;NM_001278673:exon3:c.173+2T>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1589+2T>C;ENST00000591814:exon4:c.1589+2T>C;ENST00000397790:exon3:c.173+2T>C;ENST00000587635:exon4:c.1589+2T>C;ENST00000427363:exon4:c.1589+2T>C;ENST00000542384:exon4:c.1589+2T>C;ENST00000318065:exon4:c.1550+2T>C;ENST00000545796:exon3:c.173+2T>C;ENST00000590313:exon3:c.451+2T>C;ENST00000592223:exon4:c.1550+2T>C;ENST00000329101:exon4:c.1550+2T>C;ENST00000586434:exon4:c.1550+2T>C)	.	.	0.999642495176607	0.894
18	77208986	T	G	18	79448986	y	y	splicing	NFATC1(NM_001278670:exon4:c.1589+2T>G;NM_006162:exon4:c.1589+2T>G;NM_172388:exon3:c.173+2T>G;NM_001278669:exon4:c.1589+2T>G;NM_172390:exon4:c.1589+2T>G;NM_172387:exon4:c.1550+2T>G;NM_001278675:exon4:c.1550+2T>G;NM_001278672:exon4:c.1550+2T>G;NM_172389:exon4:c.1550+2T>G;NM_001278673:exon3:c.173+2T>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon4:c.1589+2T>G;ENST00000591814:exon4:c.1589+2T>G;ENST00000397790:exon3:c.173+2T>G;ENST00000587635:exon4:c.1589+2T>G;ENST00000427363:exon4:c.1589+2T>G;ENST00000542384:exon4:c.1589+2T>G;ENST00000318065:exon4:c.1550+2T>G;ENST00000545796:exon3:c.173+2T>G;ENST00000590313:exon3:c.451+2T>G;ENST00000592223:exon4:c.1550+2T>G;ENST00000329101:exon4:c.1550+2T>G;ENST00000586434:exon4:c.1550+2T>G)	.	.	0.999975706799895	0.922
18	77208987	A	C	18	79448987	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999145424179438	0.774
18	77208987	A	G	18	79448987	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00200126870269802	0.178
18	77208987	A	T	18	79448987	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999145424179438	0.792
18	77208988	A	C	18	79448988	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.998120275024759	0.834
18	77208988	A	G	18	79448988	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999704169886081	0.886
18	77208988	A	T	18	79448988	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.943371725157535	0.672
18	77208989	G	A	18	79448989	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.99997002034188	0.99
18	77208989	G	C	18	79448989	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999972367447833	0.942
18	77208989	G	T	18	79448989	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999965115008757	0.96
18	77208990	C	A	18	79448990	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00138607162095731	0.02
18	77208990	C	G	18	79448990	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.87008102660981E-5	0.038
18	77208990	C	T	18	79448990	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.52231399130006E-5	0.002
18	77208991	C	A	18	79448991	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.55577791009709E-5	0.0
18	77208991	C	G	18	79448991	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.28218638517427E-5	0.0
18	77208991	C	T	18	79448991	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.23636408118561E-5	0.01
18	77208992	G	A	18	79448992	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.23390993477557E-5	0.004
18	77208992	G	C	18	79448992	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.6815803950322E-6	0.0
18	77208992	G	T	18	79448992	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.41279920945617E-6	0.038
18	77210942	T	A	18	79450942	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999975625828283	0.938
18	77210942	T	C	18	79450942	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.15069605112088E-5	0.066
18	77210942	T	G	18	79450942	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.572595211398438	0.582
18	77210943	G	A	18	79450943	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.04565864385888E-4	0.282
18	77210943	G	C	18	79450943	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.74262702669773E-4	0.324
18	77210943	G	T	18	79450943	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.74262702669773E-4	0.404
18	77210944	T	A	18	79450944	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.990162871095881	0.776
18	77210944	T	C	18	79450944	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0271838291259024	0.202
18	77210944	T	G	18	79450944	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.807692049380627	0.74
18	77210945	T	A	18	79450945	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.52672816733641	0.428
18	77210945	T	C	18	79450945	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.39558987542967E-6	0.056
18	77210945	T	G	18	79450945	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.136057908332158	0.368
18	77210946	T	A	18	79450946	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.064606833217667	0.322
18	77210946	T	C	18	79450946	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.24979623864233E-5	0.006
18	77210946	T	G	18	79450946	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00978127948363996	0.298
18	77210947	T	A	18	79450947	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999899571943862	0.904
18	77210947	T	C	18	79450947	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.15133882598898E-5	0.024
18	77210947	T	G	18	79450947	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0313286148985078	0.316
18	77210948	G	A	18	79450948	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.997678560481064	0.92
18	77210948	G	C	18	79450948	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.53034750048684E-5	0.038
18	77210948	G	T	18	79450948	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.53034750048684E-5	0.044
18	77210949	G	A	18	79450949	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.903122877009253	0.512
18	77210949	G	C	18	79450949	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.00878763632089E-4	0.026
18	77210949	G	T	18	79450949	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.64845337623914E-4	0.024
18	77210950	G	A	18	79450950	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00123432897637109	0.034
18	77210950	G	C	18	79450950	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00189069217147972	0.084
18	77210950	G	T	18	79450950	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00288193307269958	0.07
18	77210951	C	A	18	79450951	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.993718341500015	0.89
18	77210951	C	G	18	79450951	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999417808438218	0.864
18	77210951	C	T	18	79450951	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0459656681031805	0.066
18	77210952	A	C	18	79450952	y	y	splicing	NFATC1(NM_001278670:exon5:c.1590-2A>C;NM_006162:exon5:c.1590-2A>C;NM_172388:exon4:c.174-2A>C;NM_001278669:exon5:c.1590-2A>C;NM_172390:exon5:c.1590-2A>C;NM_172387:exon5:c.1551-2A>C;NM_001278675:exon5:c.1551-2A>C;NM_001278672:exon5:c.1551-2A>C;NM_172389:exon5:c.1551-2A>C;NM_001278673:exon4:c.174-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1590-2A>C;ENST00000591814:exon5:c.1590-2A>C;ENST00000397790:exon4:c.174-2A>C;ENST00000587635:exon5:c.1590-2A>C;ENST00000427363:exon5:c.1590-2A>C;ENST00000542384:exon5:c.1590-2A>C;ENST00000318065:exon5:c.1551-2A>C;ENST00000545796:exon4:c.174-2A>C;ENST00000590313:exon4:c.452-2A>C;ENST00000592223:exon5:c.1551-2A>C;ENST00000329101:exon5:c.1551-2A>C;ENST00000586434:exon5:c.1551-2A>C)	.	.	0.999987293550401	0.912
18	77210952	A	G	18	79450952	y	y	splicing	NFATC1(NM_001278670:exon5:c.1590-2A>G;NM_006162:exon5:c.1590-2A>G;NM_172388:exon4:c.174-2A>G;NM_001278669:exon5:c.1590-2A>G;NM_172390:exon5:c.1590-2A>G;NM_172387:exon5:c.1551-2A>G;NM_001278675:exon5:c.1551-2A>G;NM_001278672:exon5:c.1551-2A>G;NM_172389:exon5:c.1551-2A>G;NM_001278673:exon4:c.174-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1590-2A>G;ENST00000591814:exon5:c.1590-2A>G;ENST00000397790:exon4:c.174-2A>G;ENST00000587635:exon5:c.1590-2A>G;ENST00000427363:exon5:c.1590-2A>G;ENST00000542384:exon5:c.1590-2A>G;ENST00000318065:exon5:c.1551-2A>G;ENST00000545796:exon4:c.174-2A>G;ENST00000590313:exon4:c.452-2A>G;ENST00000592223:exon5:c.1551-2A>G;ENST00000329101:exon5:c.1551-2A>G;ENST00000586434:exon5:c.1551-2A>G)	.	.	0.999987293550401	0.912
18	77210952	A	T	18	79450952	y	y	splicing	NFATC1(NM_001278670:exon5:c.1590-2A>T;NM_006162:exon5:c.1590-2A>T;NM_172388:exon4:c.174-2A>T;NM_001278669:exon5:c.1590-2A>T;NM_172390:exon5:c.1590-2A>T;NM_172387:exon5:c.1551-2A>T;NM_001278675:exon5:c.1551-2A>T;NM_001278672:exon5:c.1551-2A>T;NM_172389:exon5:c.1551-2A>T;NM_001278673:exon4:c.174-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1590-2A>T;ENST00000591814:exon5:c.1590-2A>T;ENST00000397790:exon4:c.174-2A>T;ENST00000587635:exon5:c.1590-2A>T;ENST00000427363:exon5:c.1590-2A>T;ENST00000542384:exon5:c.1590-2A>T;ENST00000318065:exon5:c.1551-2A>T;ENST00000545796:exon4:c.174-2A>T;ENST00000590313:exon4:c.452-2A>T;ENST00000592223:exon5:c.1551-2A>T;ENST00000329101:exon5:c.1551-2A>T;ENST00000586434:exon5:c.1551-2A>T)	.	.	0.999987293550401	0.914
18	77210953	G	A	18	79450953	y	y	splicing	NFATC1(NM_001278670:exon5:c.1590-1G>A;NM_006162:exon5:c.1590-1G>A;NM_172388:exon4:c.174-1G>A;NM_001278669:exon5:c.1590-1G>A;NM_172390:exon5:c.1590-1G>A;NM_172387:exon5:c.1551-1G>A;NM_001278675:exon5:c.1551-1G>A;NM_001278672:exon5:c.1551-1G>A;NM_172389:exon5:c.1551-1G>A;NM_001278673:exon4:c.174-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1590-1G>A;ENST00000591814:exon5:c.1590-1G>A;ENST00000397790:exon4:c.174-1G>A;ENST00000587635:exon5:c.1590-1G>A;ENST00000427363:exon5:c.1590-1G>A;ENST00000542384:exon5:c.1590-1G>A;ENST00000318065:exon5:c.1551-1G>A;ENST00000545796:exon4:c.174-1G>A;ENST00000590313:exon4:c.452-1G>A;ENST00000592223:exon5:c.1551-1G>A;ENST00000329101:exon5:c.1551-1G>A;ENST00000586434:exon5:c.1551-1G>A)	.	.	0.999958283576305	0.892
18	77210953	G	C	18	79450953	y	y	splicing	NFATC1(NM_001278670:exon5:c.1590-1G>C;NM_006162:exon5:c.1590-1G>C;NM_172388:exon4:c.174-1G>C;NM_001278669:exon5:c.1590-1G>C;NM_172390:exon5:c.1590-1G>C;NM_172387:exon5:c.1551-1G>C;NM_001278675:exon5:c.1551-1G>C;NM_001278672:exon5:c.1551-1G>C;NM_172389:exon5:c.1551-1G>C;NM_001278673:exon4:c.174-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1590-1G>C;ENST00000591814:exon5:c.1590-1G>C;ENST00000397790:exon4:c.174-1G>C;ENST00000587635:exon5:c.1590-1G>C;ENST00000427363:exon5:c.1590-1G>C;ENST00000542384:exon5:c.1590-1G>C;ENST00000318065:exon5:c.1551-1G>C;ENST00000545796:exon4:c.174-1G>C;ENST00000590313:exon4:c.452-1G>C;ENST00000592223:exon5:c.1551-1G>C;ENST00000329101:exon5:c.1551-1G>C;ENST00000586434:exon5:c.1551-1G>C)	.	.	0.999958283576305	0.892
18	77210953	G	T	18	79450953	y	y	splicing	NFATC1(NM_001278670:exon5:c.1590-1G>T;NM_006162:exon5:c.1590-1G>T;NM_172388:exon4:c.174-1G>T;NM_001278669:exon5:c.1590-1G>T;NM_172390:exon5:c.1590-1G>T;NM_172387:exon5:c.1551-1G>T;NM_001278675:exon5:c.1551-1G>T;NM_001278672:exon5:c.1551-1G>T;NM_172389:exon5:c.1551-1G>T;NM_001278673:exon4:c.174-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1590-1G>T;ENST00000591814:exon5:c.1590-1G>T;ENST00000397790:exon4:c.174-1G>T;ENST00000587635:exon5:c.1590-1G>T;ENST00000427363:exon5:c.1590-1G>T;ENST00000542384:exon5:c.1590-1G>T;ENST00000318065:exon5:c.1551-1G>T;ENST00000545796:exon4:c.174-1G>T;ENST00000590313:exon4:c.452-1G>T;ENST00000592223:exon5:c.1551-1G>T;ENST00000329101:exon5:c.1551-1G>T;ENST00000586434:exon5:c.1551-1G>T)	.	.	0.999958283576305	0.89
18	77210954	C	A	18	79450954	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon5:c.C1590A:p.V530V;NFATC1:NM_001278672:exon5:c.C1551A:p.V517V;NFATC1:NM_172387:exon5:c.C1551A:p.V517V;NFATC1:NM_001278673:exon4:c.C174A:p.V58V;NFATC1:NM_006162:exon5:c.C1590A:p.V530V;NFATC1:NM_001278675:exon5:c.C1551A:p.V517V;NFATC1:NM_172388:exon4:c.C174A:p.V58V;NFATC1:NM_172390:exon5:c.C1590A:p.V530V;NFATC1:NM_001278670:exon5:c.C1590A:p.V530V;NFATC1:NM_172389:exon5:c.C1551A:p.V517V;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.C1590A:p.V530V;ENSG00000131196:ENST00000318065:exon5:c.C1551A:p.V517V;ENSG00000131196:ENST00000329101:exon5:c.C1551A:p.V517V;ENSG00000131196:ENST00000427363:exon5:c.C1590A:p.V530V;ENSG00000131196:ENST00000542384:exon5:c.C1590A:p.V530V;ENSG00000131196:ENST00000586434:exon5:c.C1551A:p.V517V;ENSG00000131196:ENST00000591814:exon5:c.C1590A:p.V530V;ENSG00000131196:ENST00000397790:exon4:c.C174A:p.V58V;ENSG00000131196:ENST00000545796:exon4:c.C174A:p.V58V;ENSG00000131196:ENST00000592223:exon5:c.C1551A:p.V517V;ENSG00000131196:ENST00000587635:exon5:c.C1590A:p.V530V;	1.44738853431024E-4	0.004
18	77210954	C	G	18	79450954	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon5:c.C1590G:p.V530V;NFATC1:NM_001278672:exon5:c.C1551G:p.V517V;NFATC1:NM_172387:exon5:c.C1551G:p.V517V;NFATC1:NM_001278673:exon4:c.C174G:p.V58V;NFATC1:NM_006162:exon5:c.C1590G:p.V530V;NFATC1:NM_001278675:exon5:c.C1551G:p.V517V;NFATC1:NM_172388:exon4:c.C174G:p.V58V;NFATC1:NM_172390:exon5:c.C1590G:p.V530V;NFATC1:NM_001278670:exon5:c.C1590G:p.V530V;NFATC1:NM_172389:exon5:c.C1551G:p.V517V;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.C1590G:p.V530V;ENSG00000131196:ENST00000318065:exon5:c.C1551G:p.V517V;ENSG00000131196:ENST00000329101:exon5:c.C1551G:p.V517V;ENSG00000131196:ENST00000427363:exon5:c.C1590G:p.V530V;ENSG00000131196:ENST00000542384:exon5:c.C1590G:p.V530V;ENSG00000131196:ENST00000586434:exon5:c.C1551G:p.V517V;ENSG00000131196:ENST00000591814:exon5:c.C1590G:p.V530V;ENSG00000131196:ENST00000397790:exon4:c.C174G:p.V58V;ENSG00000131196:ENST00000545796:exon4:c.C174G:p.V58V;ENSG00000131196:ENST00000592223:exon5:c.C1551G:p.V517V;ENSG00000131196:ENST00000587635:exon5:c.C1590G:p.V530V;	5.03008219471336E-4	0.052
18	77210954	C	T	18	79450954	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon5:c.C1590T:p.V530V;NFATC1:NM_001278672:exon5:c.C1551T:p.V517V;NFATC1:NM_172387:exon5:c.C1551T:p.V517V;NFATC1:NM_001278673:exon4:c.C174T:p.V58V;NFATC1:NM_006162:exon5:c.C1590T:p.V530V;NFATC1:NM_001278675:exon5:c.C1551T:p.V517V;NFATC1:NM_172388:exon4:c.C174T:p.V58V;NFATC1:NM_172390:exon5:c.C1590T:p.V530V;NFATC1:NM_001278670:exon5:c.C1590T:p.V530V;NFATC1:NM_172389:exon5:c.C1551T:p.V517V;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.C1590T:p.V530V;ENSG00000131196:ENST00000318065:exon5:c.C1551T:p.V517V;ENSG00000131196:ENST00000329101:exon5:c.C1551T:p.V517V;ENSG00000131196:ENST00000427363:exon5:c.C1590T:p.V530V;ENSG00000131196:ENST00000542384:exon5:c.C1590T:p.V530V;ENSG00000131196:ENST00000586434:exon5:c.C1551T:p.V517V;ENSG00000131196:ENST00000591814:exon5:c.C1590T:p.V530V;ENSG00000131196:ENST00000397790:exon4:c.C174T:p.V58V;ENSG00000131196:ENST00000545796:exon4:c.C174T:p.V58V;ENSG00000131196:ENST00000592223:exon5:c.C1551T:p.V517V;ENSG00000131196:ENST00000587635:exon5:c.C1590T:p.V530V;	0.00256823269589152	0.196
18	77210955	A	C	18	79450955	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.A1591C:p.I531L;NFATC1:NM_001278672:exon5:c.A1552C:p.I518L;NFATC1:NM_172387:exon5:c.A1552C:p.I518L;NFATC1:NM_001278673:exon4:c.A175C:p.I59L;NFATC1:NM_006162:exon5:c.A1591C:p.I531L;NFATC1:NM_001278675:exon5:c.A1552C:p.I518L;NFATC1:NM_172388:exon4:c.A175C:p.I59L;NFATC1:NM_172390:exon5:c.A1591C:p.I531L;NFATC1:NM_001278670:exon5:c.A1591C:p.I531L;NFATC1:NM_172389:exon5:c.A1552C:p.I518L;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.A1591C:p.I531L;ENSG00000131196:ENST00000318065:exon5:c.A1552C:p.I518L;ENSG00000131196:ENST00000329101:exon5:c.A1552C:p.I518L;ENSG00000131196:ENST00000427363:exon5:c.A1591C:p.I531L;ENSG00000131196:ENST00000542384:exon5:c.A1591C:p.I531L;ENSG00000131196:ENST00000586434:exon5:c.A1552C:p.I518L;ENSG00000131196:ENST00000591814:exon5:c.A1591C:p.I531L;ENSG00000131196:ENST00000397790:exon4:c.A175C:p.I59L;ENSG00000131196:ENST00000545796:exon4:c.A175C:p.I59L;ENSG00000131196:ENST00000592223:exon5:c.A1552C:p.I518L;ENSG00000131196:ENST00000587635:exon5:c.A1591C:p.I531L;	0.0601536850609519	0.26
18	77210955	A	G	18	79450955	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.A1591G:p.I531V;NFATC1:NM_001278672:exon5:c.A1552G:p.I518V;NFATC1:NM_172387:exon5:c.A1552G:p.I518V;NFATC1:NM_001278673:exon4:c.A175G:p.I59V;NFATC1:NM_006162:exon5:c.A1591G:p.I531V;NFATC1:NM_001278675:exon5:c.A1552G:p.I518V;NFATC1:NM_172388:exon4:c.A175G:p.I59V;NFATC1:NM_172390:exon5:c.A1591G:p.I531V;NFATC1:NM_001278670:exon5:c.A1591G:p.I531V;NFATC1:NM_172389:exon5:c.A1552G:p.I518V;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.A1591G:p.I531V;ENSG00000131196:ENST00000318065:exon5:c.A1552G:p.I518V;ENSG00000131196:ENST00000329101:exon5:c.A1552G:p.I518V;ENSG00000131196:ENST00000427363:exon5:c.A1591G:p.I531V;ENSG00000131196:ENST00000542384:exon5:c.A1591G:p.I531V;ENSG00000131196:ENST00000586434:exon5:c.A1552G:p.I518V;ENSG00000131196:ENST00000591814:exon5:c.A1591G:p.I531V;ENSG00000131196:ENST00000397790:exon4:c.A175G:p.I59V;ENSG00000131196:ENST00000545796:exon4:c.A175G:p.I59V;ENSG00000131196:ENST00000592223:exon5:c.A1552G:p.I518V;ENSG00000131196:ENST00000587635:exon5:c.A1591G:p.I531V;	3.2774096542161E-4	0.024
18	77210955	A	T	18	79450955	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.A1591T:p.I531F;NFATC1:NM_001278672:exon5:c.A1552T:p.I518F;NFATC1:NM_172387:exon5:c.A1552T:p.I518F;NFATC1:NM_001278673:exon4:c.A175T:p.I59F;NFATC1:NM_006162:exon5:c.A1591T:p.I531F;NFATC1:NM_001278675:exon5:c.A1552T:p.I518F;NFATC1:NM_172388:exon4:c.A175T:p.I59F;NFATC1:NM_172390:exon5:c.A1591T:p.I531F;NFATC1:NM_001278670:exon5:c.A1591T:p.I531F;NFATC1:NM_172389:exon5:c.A1552T:p.I518F;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.A1591T:p.I531F;ENSG00000131196:ENST00000318065:exon5:c.A1552T:p.I518F;ENSG00000131196:ENST00000329101:exon5:c.A1552T:p.I518F;ENSG00000131196:ENST00000427363:exon5:c.A1591T:p.I531F;ENSG00000131196:ENST00000542384:exon5:c.A1591T:p.I531F;ENSG00000131196:ENST00000586434:exon5:c.A1552T:p.I518F;ENSG00000131196:ENST00000591814:exon5:c.A1591T:p.I531F;ENSG00000131196:ENST00000397790:exon4:c.A175T:p.I59F;ENSG00000131196:ENST00000545796:exon4:c.A175T:p.I59F;ENSG00000131196:ENST00000592223:exon5:c.A1552T:p.I518F;ENSG00000131196:ENST00000587635:exon5:c.A1591T:p.I531F;	0.0453617010487785	0.374
18	77211124	G	A	18	79451124	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.G1760A:p.C587Y;NFATC1:NM_001278672:exon5:c.G1721A:p.C574Y;NFATC1:NM_172387:exon5:c.G1721A:p.C574Y;NFATC1:NM_001278673:exon4:c.G344A:p.C115Y;NFATC1:NM_006162:exon5:c.G1760A:p.C587Y;NFATC1:NM_001278675:exon5:c.G1721A:p.C574Y;NFATC1:NM_172388:exon4:c.G344A:p.C115Y;NFATC1:NM_172390:exon5:c.G1760A:p.C587Y;NFATC1:NM_001278670:exon5:c.G1760A:p.C587Y;NFATC1:NM_172389:exon5:c.G1721A:p.C574Y;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.G1760A:p.C587Y;ENSG00000131196:ENST00000318065:exon5:c.G1721A:p.C574Y;ENSG00000131196:ENST00000329101:exon5:c.G1721A:p.C574Y;ENSG00000131196:ENST00000427363:exon5:c.G1760A:p.C587Y;ENSG00000131196:ENST00000542384:exon5:c.G1760A:p.C587Y;ENSG00000131196:ENST00000586434:exon5:c.G1721A:p.C574Y;ENSG00000131196:ENST00000591814:exon5:c.G1760A:p.C587Y;ENSG00000131196:ENST00000397790:exon4:c.G344A:p.C115Y;ENSG00000131196:ENST00000545796:exon4:c.G344A:p.C115Y;ENSG00000131196:ENST00000592223:exon5:c.G1721A:p.C574Y;	0.604533170064748	0.688
18	77211124	G	C	18	79451124	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.G1760C:p.C587S;NFATC1:NM_001278672:exon5:c.G1721C:p.C574S;NFATC1:NM_172387:exon5:c.G1721C:p.C574S;NFATC1:NM_001278673:exon4:c.G344C:p.C115S;NFATC1:NM_006162:exon5:c.G1760C:p.C587S;NFATC1:NM_001278675:exon5:c.G1721C:p.C574S;NFATC1:NM_172388:exon4:c.G344C:p.C115S;NFATC1:NM_172390:exon5:c.G1760C:p.C587S;NFATC1:NM_001278670:exon5:c.G1760C:p.C587S;NFATC1:NM_172389:exon5:c.G1721C:p.C574S;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.G1760C:p.C587S;ENSG00000131196:ENST00000318065:exon5:c.G1721C:p.C574S;ENSG00000131196:ENST00000329101:exon5:c.G1721C:p.C574S;ENSG00000131196:ENST00000427363:exon5:c.G1760C:p.C587S;ENSG00000131196:ENST00000542384:exon5:c.G1760C:p.C587S;ENSG00000131196:ENST00000586434:exon5:c.G1721C:p.C574S;ENSG00000131196:ENST00000591814:exon5:c.G1760C:p.C587S;ENSG00000131196:ENST00000397790:exon4:c.G344C:p.C115S;ENSG00000131196:ENST00000545796:exon4:c.G344C:p.C115S;ENSG00000131196:ENST00000592223:exon5:c.G1721C:p.C574S;	0.720153675124978	0.646
18	77211124	G	T	18	79451124	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.G1760T:p.C587F;NFATC1:NM_001278672:exon5:c.G1721T:p.C574F;NFATC1:NM_172387:exon5:c.G1721T:p.C574F;NFATC1:NM_001278673:exon4:c.G344T:p.C115F;NFATC1:NM_006162:exon5:c.G1760T:p.C587F;NFATC1:NM_001278675:exon5:c.G1721T:p.C574F;NFATC1:NM_172388:exon4:c.G344T:p.C115F;NFATC1:NM_172390:exon5:c.G1760T:p.C587F;NFATC1:NM_001278670:exon5:c.G1760T:p.C587F;NFATC1:NM_172389:exon5:c.G1721T:p.C574F;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.G1760T:p.C587F;ENSG00000131196:ENST00000318065:exon5:c.G1721T:p.C574F;ENSG00000131196:ENST00000329101:exon5:c.G1721T:p.C574F;ENSG00000131196:ENST00000427363:exon5:c.G1760T:p.C587F;ENSG00000131196:ENST00000542384:exon5:c.G1760T:p.C587F;ENSG00000131196:ENST00000586434:exon5:c.G1721T:p.C574F;ENSG00000131196:ENST00000591814:exon5:c.G1760T:p.C587F;ENSG00000131196:ENST00000397790:exon4:c.G344T:p.C115F;ENSG00000131196:ENST00000545796:exon4:c.G344T:p.C115F;ENSG00000131196:ENST00000592223:exon5:c.G1721T:p.C574F;	0.940565074341398	0.8
18	77211125	C	A	18	79451125	y	y	exonic	NFATC1	stopgain SNV	NFATC1:NM_001278669:exon5:c.C1761A:p.C587X;NFATC1:NM_001278672:exon5:c.C1722A:p.C574X;NFATC1:NM_172387:exon5:c.C1722A:p.C574X;NFATC1:NM_001278673:exon4:c.C345A:p.C115X;NFATC1:NM_006162:exon5:c.C1761A:p.C587X;NFATC1:NM_001278675:exon5:c.C1722A:p.C574X;NFATC1:NM_172388:exon4:c.C345A:p.C115X;NFATC1:NM_172390:exon5:c.C1761A:p.C587X;NFATC1:NM_001278670:exon5:c.C1761A:p.C587X;NFATC1:NM_172389:exon5:c.C1722A:p.C574X;	exonic	ENSG00000131196	stopgain SNV	ENSG00000131196:ENST00000253506:exon5:c.C1761A:p.C587X;ENSG00000131196:ENST00000318065:exon5:c.C1722A:p.C574X;ENSG00000131196:ENST00000329101:exon5:c.C1722A:p.C574X;ENSG00000131196:ENST00000427363:exon5:c.C1761A:p.C587X;ENSG00000131196:ENST00000542384:exon5:c.C1761A:p.C587X;ENSG00000131196:ENST00000586434:exon5:c.C1722A:p.C574X;ENSG00000131196:ENST00000591814:exon5:c.C1761A:p.C587X;ENSG00000131196:ENST00000397790:exon4:c.C345A:p.C115X;ENSG00000131196:ENST00000545796:exon4:c.C345A:p.C115X;ENSG00000131196:ENST00000592223:exon5:c.C1722A:p.C574X;	8.74401461964292E-5	0.226
18	77211125	C	G	18	79451125	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.C1761G:p.C587W;NFATC1:NM_001278672:exon5:c.C1722G:p.C574W;NFATC1:NM_172387:exon5:c.C1722G:p.C574W;NFATC1:NM_001278673:exon4:c.C345G:p.C115W;NFATC1:NM_006162:exon5:c.C1761G:p.C587W;NFATC1:NM_001278675:exon5:c.C1722G:p.C574W;NFATC1:NM_172388:exon4:c.C345G:p.C115W;NFATC1:NM_172390:exon5:c.C1761G:p.C587W;NFATC1:NM_001278670:exon5:c.C1761G:p.C587W;NFATC1:NM_172389:exon5:c.C1722G:p.C574W;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.C1761G:p.C587W;ENSG00000131196:ENST00000318065:exon5:c.C1722G:p.C574W;ENSG00000131196:ENST00000329101:exon5:c.C1722G:p.C574W;ENSG00000131196:ENST00000427363:exon5:c.C1761G:p.C587W;ENSG00000131196:ENST00000542384:exon5:c.C1761G:p.C587W;ENSG00000131196:ENST00000586434:exon5:c.C1722G:p.C574W;ENSG00000131196:ENST00000591814:exon5:c.C1761G:p.C587W;ENSG00000131196:ENST00000397790:exon4:c.C345G:p.C115W;ENSG00000131196:ENST00000545796:exon4:c.C345G:p.C115W;ENSG00000131196:ENST00000592223:exon5:c.C1722G:p.C574W;	1.18364883997477E-4	0.118
18	77211125	C	T	18	79451125	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon5:c.C1761T:p.C587C;NFATC1:NM_001278672:exon5:c.C1722T:p.C574C;NFATC1:NM_172387:exon5:c.C1722T:p.C574C;NFATC1:NM_001278673:exon4:c.C345T:p.C115C;NFATC1:NM_006162:exon5:c.C1761T:p.C587C;NFATC1:NM_001278675:exon5:c.C1722T:p.C574C;NFATC1:NM_172388:exon4:c.C345T:p.C115C;NFATC1:NM_172390:exon5:c.C1761T:p.C587C;NFATC1:NM_001278670:exon5:c.C1761T:p.C587C;NFATC1:NM_172389:exon5:c.C1722T:p.C574C;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.C1761T:p.C587C;ENSG00000131196:ENST00000318065:exon5:c.C1722T:p.C574C;ENSG00000131196:ENST00000329101:exon5:c.C1722T:p.C574C;ENSG00000131196:ENST00000427363:exon5:c.C1761T:p.C587C;ENSG00000131196:ENST00000542384:exon5:c.C1761T:p.C587C;ENSG00000131196:ENST00000586434:exon5:c.C1722T:p.C574C;ENSG00000131196:ENST00000591814:exon5:c.C1761T:p.C587C;ENSG00000131196:ENST00000397790:exon4:c.C345T:p.C115C;ENSG00000131196:ENST00000545796:exon4:c.C345T:p.C115C;ENSG00000131196:ENST00000592223:exon5:c.C1722T:p.C574C;	1.148946463966E-4	0.062
18	77211126	T	A	18	79451126	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.T1762A:p.S588T;NFATC1:NM_001278672:exon5:c.T1723A:p.S575T;NFATC1:NM_172387:exon5:c.T1723A:p.S575T;NFATC1:NM_001278673:exon4:c.T346A:p.S116T;NFATC1:NM_006162:exon5:c.T1762A:p.S588T;NFATC1:NM_001278675:exon5:c.T1723A:p.S575T;NFATC1:NM_172388:exon4:c.T346A:p.S116T;NFATC1:NM_172390:exon5:c.T1762A:p.S588T;NFATC1:NM_001278670:exon5:c.T1762A:p.S588T;NFATC1:NM_172389:exon5:c.T1723A:p.S575T;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.T1762A:p.S588T;ENSG00000131196:ENST00000318065:exon5:c.T1723A:p.S575T;ENSG00000131196:ENST00000329101:exon5:c.T1723A:p.S575T;ENSG00000131196:ENST00000427363:exon5:c.T1762A:p.S588T;ENSG00000131196:ENST00000542384:exon5:c.T1762A:p.S588T;ENSG00000131196:ENST00000586434:exon5:c.T1723A:p.S575T;ENSG00000131196:ENST00000591814:exon5:c.T1762A:p.S588T;ENSG00000131196:ENST00000397790:exon4:c.T346A:p.S116T;ENSG00000131196:ENST00000545796:exon4:c.T346A:p.S116T;ENSG00000131196:ENST00000592223:exon5:c.T1723A:p.S575T;	0.153623114696455	0.48
18	77211126	T	C	18	79451126	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.T1762C:p.S588P;NFATC1:NM_001278672:exon5:c.T1723C:p.S575P;NFATC1:NM_172387:exon5:c.T1723C:p.S575P;NFATC1:NM_001278673:exon4:c.T346C:p.S116P;NFATC1:NM_006162:exon5:c.T1762C:p.S588P;NFATC1:NM_001278675:exon5:c.T1723C:p.S575P;NFATC1:NM_172388:exon4:c.T346C:p.S116P;NFATC1:NM_172390:exon5:c.T1762C:p.S588P;NFATC1:NM_001278670:exon5:c.T1762C:p.S588P;NFATC1:NM_172389:exon5:c.T1723C:p.S575P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.T1762C:p.S588P;ENSG00000131196:ENST00000318065:exon5:c.T1723C:p.S575P;ENSG00000131196:ENST00000329101:exon5:c.T1723C:p.S575P;ENSG00000131196:ENST00000427363:exon5:c.T1762C:p.S588P;ENSG00000131196:ENST00000542384:exon5:c.T1762C:p.S588P;ENSG00000131196:ENST00000586434:exon5:c.T1723C:p.S575P;ENSG00000131196:ENST00000591814:exon5:c.T1762C:p.S588P;ENSG00000131196:ENST00000397790:exon4:c.T346C:p.S116P;ENSG00000131196:ENST00000545796:exon4:c.T346C:p.S116P;ENSG00000131196:ENST00000592223:exon5:c.T1723C:p.S575P;	0.881445363055242	0.748
18	77211126	T	G	18	79451126	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon5:c.T1762G:p.S588A;NFATC1:NM_001278672:exon5:c.T1723G:p.S575A;NFATC1:NM_172387:exon5:c.T1723G:p.S575A;NFATC1:NM_001278673:exon4:c.T346G:p.S116A;NFATC1:NM_006162:exon5:c.T1762G:p.S588A;NFATC1:NM_001278675:exon5:c.T1723G:p.S575A;NFATC1:NM_172388:exon4:c.T346G:p.S116A;NFATC1:NM_172390:exon5:c.T1762G:p.S588A;NFATC1:NM_001278670:exon5:c.T1762G:p.S588A;NFATC1:NM_172389:exon5:c.T1723G:p.S575A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon5:c.T1762G:p.S588A;ENSG00000131196:ENST00000318065:exon5:c.T1723G:p.S575A;ENSG00000131196:ENST00000329101:exon5:c.T1723G:p.S575A;ENSG00000131196:ENST00000427363:exon5:c.T1762G:p.S588A;ENSG00000131196:ENST00000542384:exon5:c.T1762G:p.S588A;ENSG00000131196:ENST00000586434:exon5:c.T1723G:p.S575A;ENSG00000131196:ENST00000591814:exon5:c.T1762G:p.S588A;ENSG00000131196:ENST00000397790:exon4:c.T346G:p.S116A;ENSG00000131196:ENST00000545796:exon4:c.T346G:p.S116A;ENSG00000131196:ENST00000592223:exon5:c.T1723G:p.S575A;	0.153769093149147	0.276
18	77211127	G	A	18	79451127	y	y	splicing	NFATC1(NM_001278670:exon5:c.1762+1G>A;NM_006162:exon5:c.1762+1G>A;NM_172388:exon4:c.346+1G>A;NM_001278669:exon5:c.1762+1G>A;NM_172390:exon5:c.1762+1G>A;NM_172387:exon5:c.1723+1G>A;NM_001278675:exon5:c.1723+1G>A;NM_001278672:exon5:c.1723+1G>A;NM_172389:exon5:c.1723+1G>A;NM_001278673:exon4:c.346+1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1762+1G>A;ENST00000591814:exon5:c.1762+1G>A;ENST00000397790:exon4:c.346+1G>A;ENST00000427363:exon5:c.1762+1G>A;ENST00000542384:exon5:c.1762+1G>A;ENST00000318065:exon5:c.1723+1G>A;ENST00000545796:exon4:c.346+1G>A;ENST00000590313:exon4:c.624+1G>A;ENST00000592223:exon5:c.1723+1G>A;ENST00000329101:exon5:c.1723+1G>A;ENST00000586434:exon5:c.1723+1G>A)	.	.	0.999938422912956	0.934
18	77211127	G	C	18	79451127	y	y	splicing	NFATC1(NM_001278670:exon5:c.1762+1G>C;NM_006162:exon5:c.1762+1G>C;NM_172388:exon4:c.346+1G>C;NM_001278669:exon5:c.1762+1G>C;NM_172390:exon5:c.1762+1G>C;NM_172387:exon5:c.1723+1G>C;NM_001278675:exon5:c.1723+1G>C;NM_001278672:exon5:c.1723+1G>C;NM_172389:exon5:c.1723+1G>C;NM_001278673:exon4:c.346+1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1762+1G>C;ENST00000591814:exon5:c.1762+1G>C;ENST00000397790:exon4:c.346+1G>C;ENST00000427363:exon5:c.1762+1G>C;ENST00000542384:exon5:c.1762+1G>C;ENST00000318065:exon5:c.1723+1G>C;ENST00000545796:exon4:c.346+1G>C;ENST00000590313:exon4:c.624+1G>C;ENST00000592223:exon5:c.1723+1G>C;ENST00000329101:exon5:c.1723+1G>C;ENST00000586434:exon5:c.1723+1G>C)	.	.	0.999938422912956	0.944
18	77211127	G	T	18	79451127	y	y	splicing	NFATC1(NM_001278670:exon5:c.1762+1G>T;NM_006162:exon5:c.1762+1G>T;NM_172388:exon4:c.346+1G>T;NM_001278669:exon5:c.1762+1G>T;NM_172390:exon5:c.1762+1G>T;NM_172387:exon5:c.1723+1G>T;NM_001278675:exon5:c.1723+1G>T;NM_001278672:exon5:c.1723+1G>T;NM_172389:exon5:c.1723+1G>T;NM_001278673:exon4:c.346+1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1762+1G>T;ENST00000591814:exon5:c.1762+1G>T;ENST00000397790:exon4:c.346+1G>T;ENST00000427363:exon5:c.1762+1G>T;ENST00000542384:exon5:c.1762+1G>T;ENST00000318065:exon5:c.1723+1G>T;ENST00000545796:exon4:c.346+1G>T;ENST00000590313:exon4:c.624+1G>T;ENST00000592223:exon5:c.1723+1G>T;ENST00000329101:exon5:c.1723+1G>T;ENST00000586434:exon5:c.1723+1G>T)	.	.	0.999938422912956	0.934
18	77211128	T	A	18	79451128	y	y	splicing	NFATC1(NM_001278670:exon5:c.1762+2T>A;NM_006162:exon5:c.1762+2T>A;NM_172388:exon4:c.346+2T>A;NM_001278669:exon5:c.1762+2T>A;NM_172390:exon5:c.1762+2T>A;NM_172387:exon5:c.1723+2T>A;NM_001278675:exon5:c.1723+2T>A;NM_001278672:exon5:c.1723+2T>A;NM_172389:exon5:c.1723+2T>A;NM_001278673:exon4:c.346+2T>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1762+2T>A;ENST00000591814:exon5:c.1762+2T>A;ENST00000397790:exon4:c.346+2T>A;ENST00000427363:exon5:c.1762+2T>A;ENST00000542384:exon5:c.1762+2T>A;ENST00000318065:exon5:c.1723+2T>A;ENST00000545796:exon4:c.346+2T>A;ENST00000590313:exon4:c.624+2T>A;ENST00000592223:exon5:c.1723+2T>A;ENST00000329101:exon5:c.1723+2T>A;ENST00000586434:exon5:c.1723+2T>A)	.	.	0.999967001206676	0.934
18	77211128	T	C	18	79451128	y	y	splicing	NFATC1(NM_001278670:exon5:c.1762+2T>C;NM_006162:exon5:c.1762+2T>C;NM_172388:exon4:c.346+2T>C;NM_001278669:exon5:c.1762+2T>C;NM_172390:exon5:c.1762+2T>C;NM_172387:exon5:c.1723+2T>C;NM_001278675:exon5:c.1723+2T>C;NM_001278672:exon5:c.1723+2T>C;NM_172389:exon5:c.1723+2T>C;NM_001278673:exon4:c.346+2T>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1762+2T>C;ENST00000591814:exon5:c.1762+2T>C;ENST00000397790:exon4:c.346+2T>C;ENST00000427363:exon5:c.1762+2T>C;ENST00000542384:exon5:c.1762+2T>C;ENST00000318065:exon5:c.1723+2T>C;ENST00000545796:exon4:c.346+2T>C;ENST00000590313:exon4:c.624+2T>C;ENST00000592223:exon5:c.1723+2T>C;ENST00000329101:exon5:c.1723+2T>C;ENST00000586434:exon5:c.1723+2T>C)	.	.	0.932284871256883	0.608
18	77211128	T	G	18	79451128	y	y	splicing	NFATC1(NM_001278670:exon5:c.1762+2T>G;NM_006162:exon5:c.1762+2T>G;NM_172388:exon4:c.346+2T>G;NM_001278669:exon5:c.1762+2T>G;NM_172390:exon5:c.1762+2T>G;NM_172387:exon5:c.1723+2T>G;NM_001278675:exon5:c.1723+2T>G;NM_001278672:exon5:c.1723+2T>G;NM_172389:exon5:c.1723+2T>G;NM_001278673:exon4:c.346+2T>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon5:c.1762+2T>G;ENST00000591814:exon5:c.1762+2T>G;ENST00000397790:exon4:c.346+2T>G;ENST00000427363:exon5:c.1762+2T>G;ENST00000542384:exon5:c.1762+2T>G;ENST00000318065:exon5:c.1723+2T>G;ENST00000545796:exon4:c.346+2T>G;ENST00000590313:exon4:c.624+2T>G;ENST00000592223:exon5:c.1723+2T>G;ENST00000329101:exon5:c.1723+2T>G;ENST00000586434:exon5:c.1723+2T>G)	.	.	0.999967001206676	0.938
18	77211129	A	C	18	79451129	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999135241434045	0.79
18	77211129	A	G	18	79451129	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00574033266971375	0.14
18	77211129	A	T	18	79451129	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999237144147275	0.778
18	77211130	A	C	18	79451130	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.954459640241259	0.69
18	77211130	A	G	18	79451130	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.93759188933941	0.834
18	77211130	A	T	18	79451130	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.971948028971362	0.778
18	77211131	G	A	18	79451131	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999978546776438	0.998
18	77211131	G	C	18	79451131	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999887703412264	0.918
18	77211131	G	T	18	79451131	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999970096240657	0.992
18	77211132	T	A	18	79451132	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.947148202557751	0.726
18	77211132	T	C	18	79451132	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.984137560149411	0.834
18	77211132	T	G	18	79451132	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.973963847241103	0.754
18	77211133	G	A	18	79451133	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.10111678534221E-4	0.004
18	77211133	G	C	18	79451133	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.45152116339377E-5	0.002
18	77211133	G	T	18	79451133	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.70939038715533E-5	0.002
18	77211134	G	A	18	79451134	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.26978727611254E-4	0.01
18	77211134	G	C	18	79451134	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.19413821089626E-4	0.002
18	77211134	G	T	18	79451134	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.1090379947797E-5	0.0
18	77211664	C	A	18	79451664	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00251061095883913	0.036
18	77211664	C	G	18	79451664	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00134339093772335	0.036
18	77211664	C	T	18	79451664	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.57168916593003E-4	0.002
18	77211665	T	A	18	79451665	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0547884439836652	0.274
18	77211665	T	C	18	79451665	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00161664595886243	0.02
18	77211665	T	G	18	79451665	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0644056992101747	0.344
18	77211666	T	A	18	79451666	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00233830963211704	0.124
18	77211666	T	C	18	79451666	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.28886488284738E-4	0.05
18	77211666	T	G	18	79451666	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00240360053671234	0.118
18	77211667	C	A	18	79451667	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00136912335488482	0.044
18	77211667	C	G	18	79451667	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0010827337869904	0.092
18	77211667	C	T	18	79451667	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.26778251098629E-4	0.014
18	77211668	T	A	18	79451668	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999640949824558	0.97
18	77211668	T	C	18	79451668	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.35079760390973E-6	0.0
18	77211668	T	G	18	79451668	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.50524863336448E-4	0.022
18	77211669	G	A	18	79451669	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.37150519212401E-4	0.0
18	77211669	G	C	18	79451669	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.31114210109354E-5	0.0
18	77211669	G	T	18	79451669	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.1419288956466E-5	0.0
18	77211670	A	C	18	79451670	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.19635087371285E-5	0.004
18	77211670	A	G	18	79451670	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.6815803950322E-6	0.0
18	77211670	A	T	18	79451670	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.27219349862041E-5	0.0
18	77211671	T	A	18	79451671	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.922972342671606	0.712
18	77211671	T	C	18	79451671	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.44644417959207E-4	0.04
18	77211671	T	G	18	79451671	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.990548445778547	0.754
18	77211672	G	A	18	79451672	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.8392883132334E-5	0.0
18	77211672	G	C	18	79451672	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.65153985168442E-5	0.048
18	77211672	G	T	18	79451672	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.61483126843418E-5	0.006
18	77211673	C	A	18	79451673	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.990252113481143	0.834
18	77211673	C	G	18	79451673	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999787228481214	0.934
18	77211673	C	T	18	79451673	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00609812136462685	0.032
18	77211674	A	C	18	79451674	y	y	splicing	NFATC1(NM_001278670:exon6:c.1763-2A>C;NM_006162:exon6:c.1763-2A>C;NM_172388:exon5:c.347-2A>C;NM_001278669:exon6:c.1763-2A>C;NM_172390:exon6:c.1763-2A>C;NM_172387:exon6:c.1724-2A>C;NM_001278675:exon6:c.1724-2A>C;NM_001278672:exon6:c.1724-2A>C;NM_172389:exon6:c.1724-2A>C;NM_001278673:exon5:c.347-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1763-2A>C;ENST00000591814:exon6:c.1763-2A>C;ENST00000397790:exon5:c.347-2A>C;ENST00000587635:exon6:c.1678-2A>C;ENST00000427363:exon6:c.1763-2A>C;ENST00000542384:exon6:c.1763-2A>C;ENST00000318065:exon6:c.1724-2A>C;ENST00000545796:exon5:c.347-2A>C;ENST00000590313:exon5:c.625-2A>C;ENST00000592223:exon6:c.1724-2A>C;ENST00000329101:exon6:c.1724-2A>C;ENST00000586434:exon6:c.1724-2A>C)	.	.	0.999990155693597	0.946
18	77211674	A	G	18	79451674	y	y	splicing	NFATC1(NM_001278670:exon6:c.1763-2A>G;NM_006162:exon6:c.1763-2A>G;NM_172388:exon5:c.347-2A>G;NM_001278669:exon6:c.1763-2A>G;NM_172390:exon6:c.1763-2A>G;NM_172387:exon6:c.1724-2A>G;NM_001278675:exon6:c.1724-2A>G;NM_001278672:exon6:c.1724-2A>G;NM_172389:exon6:c.1724-2A>G;NM_001278673:exon5:c.347-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1763-2A>G;ENST00000591814:exon6:c.1763-2A>G;ENST00000397790:exon5:c.347-2A>G;ENST00000587635:exon6:c.1678-2A>G;ENST00000427363:exon6:c.1763-2A>G;ENST00000542384:exon6:c.1763-2A>G;ENST00000318065:exon6:c.1724-2A>G;ENST00000545796:exon5:c.347-2A>G;ENST00000590313:exon5:c.625-2A>G;ENST00000592223:exon6:c.1724-2A>G;ENST00000329101:exon6:c.1724-2A>G;ENST00000586434:exon6:c.1724-2A>G)	.	.	0.999990155693597	0.946
18	77211674	A	T	18	79451674	y	y	splicing	NFATC1(NM_001278670:exon6:c.1763-2A>T;NM_006162:exon6:c.1763-2A>T;NM_172388:exon5:c.347-2A>T;NM_001278669:exon6:c.1763-2A>T;NM_172390:exon6:c.1763-2A>T;NM_172387:exon6:c.1724-2A>T;NM_001278675:exon6:c.1724-2A>T;NM_001278672:exon6:c.1724-2A>T;NM_172389:exon6:c.1724-2A>T;NM_001278673:exon5:c.347-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1763-2A>T;ENST00000591814:exon6:c.1763-2A>T;ENST00000397790:exon5:c.347-2A>T;ENST00000587635:exon6:c.1678-2A>T;ENST00000427363:exon6:c.1763-2A>T;ENST00000542384:exon6:c.1763-2A>T;ENST00000318065:exon6:c.1724-2A>T;ENST00000545796:exon5:c.347-2A>T;ENST00000590313:exon5:c.625-2A>T;ENST00000592223:exon6:c.1724-2A>T;ENST00000329101:exon6:c.1724-2A>T;ENST00000586434:exon6:c.1724-2A>T)	.	.	0.999990155693597	0.946
18	77211675	G	A	18	79451675	y	y	splicing	NFATC1(NM_001278670:exon6:c.1763-1G>A;NM_006162:exon6:c.1763-1G>A;NM_172388:exon5:c.347-1G>A;NM_001278669:exon6:c.1763-1G>A;NM_172390:exon6:c.1763-1G>A;NM_172387:exon6:c.1724-1G>A;NM_001278675:exon6:c.1724-1G>A;NM_001278672:exon6:c.1724-1G>A;NM_172389:exon6:c.1724-1G>A;NM_001278673:exon5:c.347-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1763-1G>A;ENST00000591814:exon6:c.1763-1G>A;ENST00000397790:exon5:c.347-1G>A;ENST00000587635:exon6:c.1678-1G>A;ENST00000427363:exon6:c.1763-1G>A;ENST00000542384:exon6:c.1763-1G>A;ENST00000318065:exon6:c.1724-1G>A;ENST00000545796:exon5:c.347-1G>A;ENST00000590313:exon5:c.625-1G>A;ENST00000592223:exon6:c.1724-1G>A;ENST00000329101:exon6:c.1724-1G>A;ENST00000586434:exon6:c.1724-1G>A)	.	.	0.999986675681007	0.956
18	77211675	G	C	18	79451675	y	y	splicing	NFATC1(NM_001278670:exon6:c.1763-1G>C;NM_006162:exon6:c.1763-1G>C;NM_172388:exon5:c.347-1G>C;NM_001278669:exon6:c.1763-1G>C;NM_172390:exon6:c.1763-1G>C;NM_172387:exon6:c.1724-1G>C;NM_001278675:exon6:c.1724-1G>C;NM_001278672:exon6:c.1724-1G>C;NM_172389:exon6:c.1724-1G>C;NM_001278673:exon5:c.347-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1763-1G>C;ENST00000591814:exon6:c.1763-1G>C;ENST00000397790:exon5:c.347-1G>C;ENST00000587635:exon6:c.1678-1G>C;ENST00000427363:exon6:c.1763-1G>C;ENST00000542384:exon6:c.1763-1G>C;ENST00000318065:exon6:c.1724-1G>C;ENST00000545796:exon5:c.347-1G>C;ENST00000590313:exon5:c.625-1G>C;ENST00000592223:exon6:c.1724-1G>C;ENST00000329101:exon6:c.1724-1G>C;ENST00000586434:exon6:c.1724-1G>C)	.	.	0.999986675681007	0.956
18	77211675	G	T	18	79451675	y	y	splicing	NFATC1(NM_001278670:exon6:c.1763-1G>T;NM_006162:exon6:c.1763-1G>T;NM_172388:exon5:c.347-1G>T;NM_001278669:exon6:c.1763-1G>T;NM_172390:exon6:c.1763-1G>T;NM_172387:exon6:c.1724-1G>T;NM_001278675:exon6:c.1724-1G>T;NM_001278672:exon6:c.1724-1G>T;NM_172389:exon6:c.1724-1G>T;NM_001278673:exon5:c.347-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1763-1G>T;ENST00000591814:exon6:c.1763-1G>T;ENST00000397790:exon5:c.347-1G>T;ENST00000587635:exon6:c.1678-1G>T;ENST00000427363:exon6:c.1763-1G>T;ENST00000542384:exon6:c.1763-1G>T;ENST00000318065:exon6:c.1724-1G>T;ENST00000545796:exon5:c.347-1G>T;ENST00000590313:exon5:c.625-1G>T;ENST00000592223:exon6:c.1724-1G>T;ENST00000329101:exon6:c.1724-1G>T;ENST00000586434:exon6:c.1724-1G>T)	.	.	0.999986675681007	0.956
18	77211676	C	A	18	79451676	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.C1763A:p.S588Y;NFATC1:NM_001278672:exon6:c.C1724A:p.S575Y;NFATC1:NM_172387:exon6:c.C1724A:p.S575Y;NFATC1:NM_001278673:exon5:c.C347A:p.S116Y;NFATC1:NM_006162:exon6:c.C1763A:p.S588Y;NFATC1:NM_001278675:exon6:c.C1724A:p.S575Y;NFATC1:NM_172388:exon5:c.C347A:p.S116Y;NFATC1:NM_172390:exon6:c.C1763A:p.S588Y;NFATC1:NM_001278670:exon6:c.C1763A:p.S588Y;NFATC1:NM_172389:exon6:c.C1724A:p.S575Y;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon6:c.C1763A:p.S588Y;ENSG00000131196:ENST00000318065:exon6:c.C1724A:p.S575Y;ENSG00000131196:ENST00000329101:exon6:c.C1724A:p.S575Y;ENSG00000131196:ENST00000427363:exon6:c.C1763A:p.S588Y;ENSG00000131196:ENST00000542384:exon6:c.C1763A:p.S588Y;ENSG00000131196:ENST00000586434:exon6:c.C1724A:p.S575Y;ENSG00000131196:ENST00000591814:exon6:c.C1763A:p.S588Y;ENSG00000131196:ENST00000397790:exon5:c.C347A:p.S116Y;ENSG00000131196:ENST00000545796:exon5:c.C347A:p.S116Y;ENSG00000131196:ENST00000592223:exon6:c.C1724A:p.S575Y;ENSG00000131196:ENST00000587635:exon6:c.C1678A:p.P560T;	0.723051459797192	0.724
18	77211676	C	G	18	79451676	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.C1763G:p.S588C;NFATC1:NM_001278672:exon6:c.C1724G:p.S575C;NFATC1:NM_172387:exon6:c.C1724G:p.S575C;NFATC1:NM_001278673:exon5:c.C347G:p.S116C;NFATC1:NM_006162:exon6:c.C1763G:p.S588C;NFATC1:NM_001278675:exon6:c.C1724G:p.S575C;NFATC1:NM_172388:exon5:c.C347G:p.S116C;NFATC1:NM_172390:exon6:c.C1763G:p.S588C;NFATC1:NM_001278670:exon6:c.C1763G:p.S588C;NFATC1:NM_172389:exon6:c.C1724G:p.S575C;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon6:c.C1763G:p.S588C;ENSG00000131196:ENST00000318065:exon6:c.C1724G:p.S575C;ENSG00000131196:ENST00000329101:exon6:c.C1724G:p.S575C;ENSG00000131196:ENST00000427363:exon6:c.C1763G:p.S588C;ENSG00000131196:ENST00000542384:exon6:c.C1763G:p.S588C;ENSG00000131196:ENST00000586434:exon6:c.C1724G:p.S575C;ENSG00000131196:ENST00000591814:exon6:c.C1763G:p.S588C;ENSG00000131196:ENST00000397790:exon5:c.C347G:p.S116C;ENSG00000131196:ENST00000545796:exon5:c.C347G:p.S116C;ENSG00000131196:ENST00000592223:exon6:c.C1724G:p.S575C;ENSG00000131196:ENST00000587635:exon6:c.C1678G:p.P560A;	0.710960857641181	0.634
18	77211676	C	T	18	79451676	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.C1763T:p.S588F;NFATC1:NM_001278672:exon6:c.C1724T:p.S575F;NFATC1:NM_172387:exon6:c.C1724T:p.S575F;NFATC1:NM_001278673:exon5:c.C347T:p.S116F;NFATC1:NM_006162:exon6:c.C1763T:p.S588F;NFATC1:NM_001278675:exon6:c.C1724T:p.S575F;NFATC1:NM_172388:exon5:c.C347T:p.S116F;NFATC1:NM_172390:exon6:c.C1763T:p.S588F;NFATC1:NM_001278670:exon6:c.C1763T:p.S588F;NFATC1:NM_172389:exon6:c.C1724T:p.S575F;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon6:c.C1763T:p.S588F;ENSG00000131196:ENST00000318065:exon6:c.C1724T:p.S575F;ENSG00000131196:ENST00000329101:exon6:c.C1724T:p.S575F;ENSG00000131196:ENST00000427363:exon6:c.C1763T:p.S588F;ENSG00000131196:ENST00000542384:exon6:c.C1763T:p.S588F;ENSG00000131196:ENST00000586434:exon6:c.C1724T:p.S575F;ENSG00000131196:ENST00000591814:exon6:c.C1763T:p.S588F;ENSG00000131196:ENST00000397790:exon5:c.C347T:p.S116F;ENSG00000131196:ENST00000545796:exon5:c.C347T:p.S116F;ENSG00000131196:ENST00000592223:exon6:c.C1724T:p.S575F;ENSG00000131196:ENST00000587635:exon6:c.C1678T:p.P560S;	0.958890334625729	0.932
18	77211677	C	A	18	79451677	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon6:c.C1764A:p.S588S;NFATC1:NM_001278672:exon6:c.C1725A:p.S575S;NFATC1:NM_172387:exon6:c.C1725A:p.S575S;NFATC1:NM_001278673:exon5:c.C348A:p.S116S;NFATC1:NM_006162:exon6:c.C1764A:p.S588S;NFATC1:NM_001278675:exon6:c.C1725A:p.S575S;NFATC1:NM_172388:exon5:c.C348A:p.S116S;NFATC1:NM_172390:exon6:c.C1764A:p.S588S;NFATC1:NM_001278670:exon6:c.C1764A:p.S588S;NFATC1:NM_172389:exon6:c.C1725A:p.S575S;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon6:c.C1679A:p.P560H;	0.0126625990875271	0.05
18	77211677	C	G	18	79451677	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon6:c.C1764G:p.S588S;NFATC1:NM_001278672:exon6:c.C1725G:p.S575S;NFATC1:NM_172387:exon6:c.C1725G:p.S575S;NFATC1:NM_001278673:exon5:c.C348G:p.S116S;NFATC1:NM_006162:exon6:c.C1764G:p.S588S;NFATC1:NM_001278675:exon6:c.C1725G:p.S575S;NFATC1:NM_172388:exon5:c.C348G:p.S116S;NFATC1:NM_172390:exon6:c.C1764G:p.S588S;NFATC1:NM_001278670:exon6:c.C1764G:p.S588S;NFATC1:NM_172389:exon6:c.C1725G:p.S575S;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon6:c.C1679G:p.P560R;	9.811481004861E-4	0.03
18	77211677	C	T	18	79451677	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon6:c.C1764T:p.S588S;NFATC1:NM_001278672:exon6:c.C1725T:p.S575S;NFATC1:NM_172387:exon6:c.C1725T:p.S575S;NFATC1:NM_001278673:exon5:c.C348T:p.S116S;NFATC1:NM_006162:exon6:c.C1764T:p.S588S;NFATC1:NM_001278675:exon6:c.C1725T:p.S575S;NFATC1:NM_172388:exon5:c.C348T:p.S116S;NFATC1:NM_172390:exon6:c.C1764T:p.S588S;NFATC1:NM_001278670:exon6:c.C1764T:p.S588S;NFATC1:NM_172389:exon6:c.C1725T:p.S575S;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon6:c.C1679T:p.P560L;	0.00276010267158934	0.032
18	77211814	C	A	18	79451814	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.C1901A:p.P634Q;NFATC1:NM_001278672:exon6:c.C1862A:p.P621Q;NFATC1:NM_172387:exon6:c.C1862A:p.P621Q;NFATC1:NM_001278673:exon5:c.C485A:p.P162Q;NFATC1:NM_006162:exon6:c.C1901A:p.P634Q;NFATC1:NM_001278675:exon6:c.C1862A:p.P621Q;NFATC1:NM_172388:exon5:c.C485A:p.P162Q;NFATC1:NM_172390:exon6:c.C1901A:p.P634Q;NFATC1:NM_001278670:exon6:c.C1901A:p.P634Q;NFATC1:NM_172389:exon6:c.C1862A:p.P621Q;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon6:c.C1901A:p.P634Q;ENSG00000131196:ENST00000318065:exon6:c.C1862A:p.P621Q;ENSG00000131196:ENST00000329101:exon6:c.C1862A:p.P621Q;ENSG00000131196:ENST00000427363:exon6:c.C1901A:p.P634Q;ENSG00000131196:ENST00000542384:exon6:c.C1901A:p.P634Q;ENSG00000131196:ENST00000586434:exon6:c.C1862A:p.P621Q;ENSG00000131196:ENST00000591814:exon6:c.C1901A:p.P634Q;ENSG00000131196:ENST00000397790:exon5:c.C485A:p.P162Q;ENSG00000131196:ENST00000545796:exon5:c.C485A:p.P162Q;ENSG00000131196:ENST00000592223:exon6:c.C1862A:p.P621Q;ENSG00000131196:ENST00000587635:exon6:c.C1816A:p.Q606K;	8.59662583122481E-4	0.1
18	77211814	C	G	18	79451814	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.C1901G:p.P634R;NFATC1:NM_001278672:exon6:c.C1862G:p.P621R;NFATC1:NM_172387:exon6:c.C1862G:p.P621R;NFATC1:NM_001278673:exon5:c.C485G:p.P162R;NFATC1:NM_006162:exon6:c.C1901G:p.P634R;NFATC1:NM_001278675:exon6:c.C1862G:p.P621R;NFATC1:NM_172388:exon5:c.C485G:p.P162R;NFATC1:NM_172390:exon6:c.C1901G:p.P634R;NFATC1:NM_001278670:exon6:c.C1901G:p.P634R;NFATC1:NM_172389:exon6:c.C1862G:p.P621R;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon6:c.C1901G:p.P634R;ENSG00000131196:ENST00000318065:exon6:c.C1862G:p.P621R;ENSG00000131196:ENST00000329101:exon6:c.C1862G:p.P621R;ENSG00000131196:ENST00000427363:exon6:c.C1901G:p.P634R;ENSG00000131196:ENST00000542384:exon6:c.C1901G:p.P634R;ENSG00000131196:ENST00000586434:exon6:c.C1862G:p.P621R;ENSG00000131196:ENST00000591814:exon6:c.C1901G:p.P634R;ENSG00000131196:ENST00000397790:exon5:c.C485G:p.P162R;ENSG00000131196:ENST00000545796:exon5:c.C485G:p.P162R;ENSG00000131196:ENST00000592223:exon6:c.C1862G:p.P621R;ENSG00000131196:ENST00000587635:exon6:c.C1816G:p.Q606E;	0.0400200445263738	0.318
18	77211814	C	T	18	79451814	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.C1901T:p.P634L;NFATC1:NM_001278672:exon6:c.C1862T:p.P621L;NFATC1:NM_172387:exon6:c.C1862T:p.P621L;NFATC1:NM_001278673:exon5:c.C485T:p.P162L;NFATC1:NM_006162:exon6:c.C1901T:p.P634L;NFATC1:NM_001278675:exon6:c.C1862T:p.P621L;NFATC1:NM_172388:exon5:c.C485T:p.P162L;NFATC1:NM_172390:exon6:c.C1901T:p.P634L;NFATC1:NM_001278670:exon6:c.C1901T:p.P634L;NFATC1:NM_172389:exon6:c.C1862T:p.P621L;	exonic	ENSG00000131196	stopgain SNV	ENSG00000131196:ENST00000587635:exon6:c.C1816T:p.Q606X;	0.974099750719423	0.804
18	77211815	A	C	18	79451815	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon6:c.A1902C:p.P634P;NFATC1:NM_001278672:exon6:c.A1863C:p.P621P;NFATC1:NM_172387:exon6:c.A1863C:p.P621P;NFATC1:NM_001278673:exon5:c.A486C:p.P162P;NFATC1:NM_006162:exon6:c.A1902C:p.P634P;NFATC1:NM_001278675:exon6:c.A1863C:p.P621P;NFATC1:NM_172388:exon5:c.A486C:p.P162P;NFATC1:NM_172390:exon6:c.A1902C:p.P634P;NFATC1:NM_001278670:exon6:c.A1902C:p.P634P;NFATC1:NM_172389:exon6:c.A1863C:p.P621P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon6:c.A1817C:p.Q606P;	0.233548338037703	0.478
18	77211815	A	G	18	79451815	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon6:c.A1902G:p.P634P;NFATC1:NM_001278672:exon6:c.A1863G:p.P621P;NFATC1:NM_172387:exon6:c.A1863G:p.P621P;NFATC1:NM_001278673:exon5:c.A486G:p.P162P;NFATC1:NM_006162:exon6:c.A1902G:p.P634P;NFATC1:NM_001278675:exon6:c.A1863G:p.P621P;NFATC1:NM_172388:exon5:c.A486G:p.P162P;NFATC1:NM_172390:exon6:c.A1902G:p.P634P;NFATC1:NM_001278670:exon6:c.A1902G:p.P634P;NFATC1:NM_172389:exon6:c.A1863G:p.P621P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon6:c.A1817G:p.Q606R;	0.205372981632971	0.43
18	77211815	A	T	18	79451815	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon6:c.A1902T:p.P634P;NFATC1:NM_001278672:exon6:c.A1863T:p.P621P;NFATC1:NM_172387:exon6:c.A1863T:p.P621P;NFATC1:NM_001278673:exon5:c.A486T:p.P162P;NFATC1:NM_006162:exon6:c.A1902T:p.P634P;NFATC1:NM_001278675:exon6:c.A1863T:p.P621P;NFATC1:NM_172388:exon5:c.A486T:p.P162P;NFATC1:NM_172390:exon6:c.A1902T:p.P634P;NFATC1:NM_001278670:exon6:c.A1902T:p.P634P;NFATC1:NM_172389:exon6:c.A1863T:p.P621P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon6:c.A1817T:p.Q606L;	0.777525436041745	0.526
18	77211816	G	A	18	79451816	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.G1903A:p.D635N;NFATC1:NM_001278672:exon6:c.G1864A:p.D622N;NFATC1:NM_172387:exon6:c.G1864A:p.D622N;NFATC1:NM_001278673:exon5:c.G487A:p.D163N;NFATC1:NM_006162:exon6:c.G1903A:p.D635N;NFATC1:NM_001278675:exon6:c.G1864A:p.D622N;NFATC1:NM_172388:exon5:c.G487A:p.D163N;NFATC1:NM_172390:exon6:c.G1903A:p.D635N;NFATC1:NM_001278670:exon6:c.G1903A:p.D635N;NFATC1:NM_172389:exon6:c.G1864A:p.D622N;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon6:c.G1903A:p.D635N;ENSG00000131196:ENST00000318065:exon6:c.G1864A:p.D622N;ENSG00000131196:ENST00000329101:exon6:c.G1864A:p.D622N;ENSG00000131196:ENST00000427363:exon6:c.G1903A:p.D635N;ENSG00000131196:ENST00000542384:exon6:c.G1903A:p.D635N;ENSG00000131196:ENST00000586434:exon6:c.G1864A:p.D622N;ENSG00000131196:ENST00000591814:exon6:c.G1903A:p.D635N;ENSG00000131196:ENST00000397790:exon5:c.G487A:p.D163N;ENSG00000131196:ENST00000545796:exon5:c.G487A:p.D163N;ENSG00000131196:ENST00000592223:exon6:c.G1864A:p.D622N;	0.99998414594755	0.988
18	77211816	G	C	18	79451816	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.G1903C:p.D635H;NFATC1:NM_001278672:exon6:c.G1864C:p.D622H;NFATC1:NM_172387:exon6:c.G1864C:p.D622H;NFATC1:NM_001278673:exon5:c.G487C:p.D163H;NFATC1:NM_006162:exon6:c.G1903C:p.D635H;NFATC1:NM_001278675:exon6:c.G1864C:p.D622H;NFATC1:NM_172388:exon5:c.G487C:p.D163H;NFATC1:NM_172390:exon6:c.G1903C:p.D635H;NFATC1:NM_001278670:exon6:c.G1903C:p.D635H;NFATC1:NM_172389:exon6:c.G1864C:p.D622H;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon6:c.G1903C:p.D635H;ENSG00000131196:ENST00000318065:exon6:c.G1864C:p.D622H;ENSG00000131196:ENST00000329101:exon6:c.G1864C:p.D622H;ENSG00000131196:ENST00000427363:exon6:c.G1903C:p.D635H;ENSG00000131196:ENST00000542384:exon6:c.G1903C:p.D635H;ENSG00000131196:ENST00000586434:exon6:c.G1864C:p.D622H;ENSG00000131196:ENST00000591814:exon6:c.G1903C:p.D635H;ENSG00000131196:ENST00000397790:exon5:c.G487C:p.D163H;ENSG00000131196:ENST00000545796:exon5:c.G487C:p.D163H;ENSG00000131196:ENST00000592223:exon6:c.G1864C:p.D622H;ENSG00000131196:ENST00000587635:exon6:c.G1818C:p.Q606H;	0.999992136725651	0.99
18	77211816	G	T	18	79451816	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon6:c.G1903T:p.D635Y;NFATC1:NM_001278672:exon6:c.G1864T:p.D622Y;NFATC1:NM_172387:exon6:c.G1864T:p.D622Y;NFATC1:NM_001278673:exon5:c.G487T:p.D163Y;NFATC1:NM_006162:exon6:c.G1903T:p.D635Y;NFATC1:NM_001278675:exon6:c.G1864T:p.D622Y;NFATC1:NM_172388:exon5:c.G487T:p.D163Y;NFATC1:NM_172390:exon6:c.G1903T:p.D635Y;NFATC1:NM_001278670:exon6:c.G1903T:p.D635Y;NFATC1:NM_172389:exon6:c.G1864T:p.D622Y;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon6:c.G1903T:p.D635Y;ENSG00000131196:ENST00000318065:exon6:c.G1864T:p.D622Y;ENSG00000131196:ENST00000329101:exon6:c.G1864T:p.D622Y;ENSG00000131196:ENST00000427363:exon6:c.G1903T:p.D635Y;ENSG00000131196:ENST00000542384:exon6:c.G1903T:p.D635Y;ENSG00000131196:ENST00000586434:exon6:c.G1864T:p.D622Y;ENSG00000131196:ENST00000591814:exon6:c.G1903T:p.D635Y;ENSG00000131196:ENST00000397790:exon5:c.G487T:p.D163Y;ENSG00000131196:ENST00000545796:exon5:c.G487T:p.D163Y;ENSG00000131196:ENST00000592223:exon6:c.G1864T:p.D622Y;ENSG00000131196:ENST00000587635:exon6:c.G1818T:p.Q606H;	0.99995697877519	0.996
18	77211817	G	A	18	79451817	y	y	splicing	NFATC1(NM_001278670:exon6:c.1903+1G>A;NM_006162:exon6:c.1903+1G>A;NM_172388:exon5:c.487+1G>A;NM_001278669:exon6:c.1903+1G>A;NM_172390:exon6:c.1903+1G>A;NM_172387:exon6:c.1864+1G>A;NM_001278675:exon6:c.1864+1G>A;NM_001278672:exon6:c.1864+1G>A;NM_172389:exon6:c.1864+1G>A;NM_001278673:exon5:c.487+1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1903+1G>A;ENST00000591814:exon6:c.1903+1G>A;ENST00000397790:exon5:c.487+1G>A;ENST00000587635:exon6:c.1818+1G>A;ENST00000427363:exon6:c.1903+1G>A;ENST00000542384:exon6:c.1903+1G>A;ENST00000318065:exon6:c.1864+1G>A;ENST00000545796:exon5:c.487+1G>A;ENST00000590313:exon5:c.765+1G>A;ENST00000592223:exon6:c.1864+1G>A;ENST00000329101:exon6:c.1864+1G>A;ENST00000586434:exon6:c.1864+1G>A)	.	.	0.999938422912956	0.948
18	77211817	G	C	18	79451817	y	y	splicing	NFATC1(NM_001278670:exon6:c.1903+1G>C;NM_006162:exon6:c.1903+1G>C;NM_172388:exon5:c.487+1G>C;NM_001278669:exon6:c.1903+1G>C;NM_172390:exon6:c.1903+1G>C;NM_172387:exon6:c.1864+1G>C;NM_001278675:exon6:c.1864+1G>C;NM_001278672:exon6:c.1864+1G>C;NM_172389:exon6:c.1864+1G>C;NM_001278673:exon5:c.487+1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1903+1G>C;ENST00000591814:exon6:c.1903+1G>C;ENST00000397790:exon5:c.487+1G>C;ENST00000587635:exon6:c.1818+1G>C;ENST00000427363:exon6:c.1903+1G>C;ENST00000542384:exon6:c.1903+1G>C;ENST00000318065:exon6:c.1864+1G>C;ENST00000545796:exon5:c.487+1G>C;ENST00000590313:exon5:c.765+1G>C;ENST00000592223:exon6:c.1864+1G>C;ENST00000329101:exon6:c.1864+1G>C;ENST00000586434:exon6:c.1864+1G>C)	.	.	0.999938990645747	0.948
18	77211817	G	T	18	79451817	y	y	splicing	NFATC1(NM_001278670:exon6:c.1903+1G>T;NM_006162:exon6:c.1903+1G>T;NM_172388:exon5:c.487+1G>T;NM_001278669:exon6:c.1903+1G>T;NM_172390:exon6:c.1903+1G>T;NM_172387:exon6:c.1864+1G>T;NM_001278675:exon6:c.1864+1G>T;NM_001278672:exon6:c.1864+1G>T;NM_172389:exon6:c.1864+1G>T;NM_001278673:exon5:c.487+1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1903+1G>T;ENST00000591814:exon6:c.1903+1G>T;ENST00000397790:exon5:c.487+1G>T;ENST00000587635:exon6:c.1818+1G>T;ENST00000427363:exon6:c.1903+1G>T;ENST00000542384:exon6:c.1903+1G>T;ENST00000318065:exon6:c.1864+1G>T;ENST00000545796:exon5:c.487+1G>T;ENST00000590313:exon5:c.765+1G>T;ENST00000592223:exon6:c.1864+1G>T;ENST00000329101:exon6:c.1864+1G>T;ENST00000586434:exon6:c.1864+1G>T)	.	.	0.999938422912956	0.948
18	77211818	T	A	18	79451818	y	y	splicing	NFATC1(NM_001278670:exon6:c.1903+2T>A;NM_006162:exon6:c.1903+2T>A;NM_172388:exon5:c.487+2T>A;NM_001278669:exon6:c.1903+2T>A;NM_172390:exon6:c.1903+2T>A;NM_172387:exon6:c.1864+2T>A;NM_001278675:exon6:c.1864+2T>A;NM_001278672:exon6:c.1864+2T>A;NM_172389:exon6:c.1864+2T>A;NM_001278673:exon5:c.487+2T>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1903+2T>A;ENST00000591814:exon6:c.1903+2T>A;ENST00000397790:exon5:c.487+2T>A;ENST00000587635:exon6:c.1818+2T>A;ENST00000427363:exon6:c.1903+2T>A;ENST00000542384:exon6:c.1903+2T>A;ENST00000318065:exon6:c.1864+2T>A;ENST00000545796:exon5:c.487+2T>A;ENST00000590313:exon5:c.765+2T>A;ENST00000592223:exon6:c.1864+2T>A;ENST00000329101:exon6:c.1864+2T>A;ENST00000586434:exon6:c.1864+2T>A)	.	.	0.999967305459904	0.946
18	77211818	T	C	18	79451818	y	y	splicing	NFATC1(NM_001278670:exon6:c.1903+2T>C;NM_006162:exon6:c.1903+2T>C;NM_172388:exon5:c.487+2T>C;NM_001278669:exon6:c.1903+2T>C;NM_172390:exon6:c.1903+2T>C;NM_172387:exon6:c.1864+2T>C;NM_001278675:exon6:c.1864+2T>C;NM_001278672:exon6:c.1864+2T>C;NM_172389:exon6:c.1864+2T>C;NM_001278673:exon5:c.487+2T>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1903+2T>C;ENST00000591814:exon6:c.1903+2T>C;ENST00000397790:exon5:c.487+2T>C;ENST00000587635:exon6:c.1818+2T>C;ENST00000427363:exon6:c.1903+2T>C;ENST00000542384:exon6:c.1903+2T>C;ENST00000318065:exon6:c.1864+2T>C;ENST00000545796:exon5:c.487+2T>C;ENST00000590313:exon5:c.765+2T>C;ENST00000592223:exon6:c.1864+2T>C;ENST00000329101:exon6:c.1864+2T>C;ENST00000586434:exon6:c.1864+2T>C)	.	.	0.948858833725253	0.57
18	77211818	T	G	18	79451818	y	y	splicing	NFATC1(NM_001278670:exon6:c.1903+2T>G;NM_006162:exon6:c.1903+2T>G;NM_172388:exon5:c.487+2T>G;NM_001278669:exon6:c.1903+2T>G;NM_172390:exon6:c.1903+2T>G;NM_172387:exon6:c.1864+2T>G;NM_001278675:exon6:c.1864+2T>G;NM_001278672:exon6:c.1864+2T>G;NM_172389:exon6:c.1864+2T>G;NM_001278673:exon5:c.487+2T>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon6:c.1903+2T>G;ENST00000591814:exon6:c.1903+2T>G;ENST00000397790:exon5:c.487+2T>G;ENST00000587635:exon6:c.1818+2T>G;ENST00000427363:exon6:c.1903+2T>G;ENST00000542384:exon6:c.1903+2T>G;ENST00000318065:exon6:c.1864+2T>G;ENST00000545796:exon5:c.487+2T>G;ENST00000590313:exon5:c.765+2T>G;ENST00000592223:exon6:c.1864+2T>G;ENST00000329101:exon6:c.1864+2T>G;ENST00000586434:exon6:c.1864+2T>G)	.	.	0.999967305459904	0.938
18	77211819	A	C	18	79451819	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.998408297742558	0.736
18	77211819	A	G	18	79451819	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.634181275776126	0.548
18	77211819	A	T	18	79451819	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.997058248089588	0.716
18	77211820	T	A	18	79451820	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.84859485950536E-5	0.01
18	77211820	T	C	18	79451820	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.64745399314608E-5	0.0
18	77211820	T	G	18	79451820	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.91481931422267E-5	0.0
18	77211821	G	A	18	79451821	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.29386901000085	0.366
18	77211821	G	C	18	79451821	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.14425518786783	0.402
18	77211821	G	T	18	79451821	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.903316371002792	0.468
18	77211822	C	A	18	79451822	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.37568902761894E-5	0.0
18	77211822	C	G	18	79451822	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.79747066986954E-5	0.024
18	77211822	C	T	18	79451822	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.75021088281669E-5	0.002
18	77211823	T	A	18	79451823	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.44454674516076E-5	0.0
18	77211823	T	C	18	79451823	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.44454674516076E-5	0.0
18	77211823	T	G	18	79451823	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.44454674516076E-5	0.0
18	77211824	C	A	18	79451824	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00100227087995679	0.022
18	77211824	C	G	18	79451824	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.54553552711568E-4	0.018
18	77211824	C	T	18	79451824	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00126316363235856	0.02
18	77221299	C	A	18	79461299	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00170576688398758	0.048
18	77221299	C	G	18	79461299	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00112469826279328	0.028
18	77221299	C	T	18	79461299	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.31640666553575E-4	0.002
18	77221300	C	A	18	79461300	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.50431631098167E-4	0.032
18	77221300	C	G	18	79461300	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.48423708341684E-4	0.014
18	77221300	C	T	18	79461300	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.42969347846428E-5	0.0
18	77221301	T	A	18	79461301	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00222466035536905	0.092
18	77221301	T	C	18	79461301	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.33693674886174E-4	0.036
18	77221301	T	G	18	79461301	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00209327820255697	0.082
18	77221302	T	A	18	79461302	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.45434264580273E-4	0.078
18	77221302	T	C	18	79461302	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.17136760199242E-4	0.016
18	77221302	T	G	18	79461302	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.4395211498789E-4	0.084
18	77221303	T	A	18	79461303	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.41365579336182E-4	0.042
18	77221303	T	C	18	79461303	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.02073830457784E-5	0.01
18	77221303	T	G	18	79461303	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.59517792478245E-5	0.04
18	77221304	C	A	18	79461304	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.58108724590497E-4	0.12
18	77221304	C	G	18	79461304	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.91123870327417E-4	0.082
18	77221304	C	T	18	79461304	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.35369038871252E-4	0.004
18	77221305	T	A	18	79461305	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00463090349109695	0.118
18	77221305	T	C	18	79461305	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.13447474848547E-5	0.012
18	77221305	T	G	18	79461305	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00185751071505951	0.138
18	77221306	T	A	18	79461306	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.42094879581672E-4	0.106
18	77221306	T	C	18	79461306	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.05163983326339E-4	0.012
18	77221306	T	G	18	79461306	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.48415766305787E-4	0.102
18	77221307	C	A	18	79461307	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.46135691142124E-5	0.002
18	77221307	C	G	18	79461307	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.83443846934682E-5	0.002
18	77221307	C	T	18	79461307	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.84268753377847E-5	0.0
18	77221308	C	A	18	79461308	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.389466978985061	0.344
18	77221308	C	G	18	79461308	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.985788061143724	0.756
18	77221308	C	T	18	79461308	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00169679513423351	0.136
18	77221309	A	C	18	79461309	y	y	splicing	NFATC1(NM_001278670:exon7:c.1904-2A>C;NM_006162:exon7:c.1904-2A>C;NM_172388:exon6:c.488-2A>C;NM_001278669:exon7:c.1904-2A>C;NM_172390:exon7:c.1904-2A>C;NM_172387:exon7:c.1865-2A>C;NM_001278675:exon7:c.1865-2A>C;NM_001278672:exon7:c.1865-2A>C;NM_172389:exon7:c.1865-2A>C;NM_001278673:exon6:c.488-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1904-2A>C;ENST00000591814:exon7:c.1904-2A>C;ENST00000397790:exon6:c.488-2A>C;ENST00000587635:exon7:c.1819-2A>C;ENST00000427363:exon7:c.1904-2A>C;ENST00000542384:exon7:c.1904-2A>C;ENST00000318065:exon7:c.1865-2A>C;ENST00000545796:exon6:c.488-2A>C;ENST00000590313:exon6:c.766-2A>C;ENST00000592223:exon7:c.1865-2A>C;ENST00000329101:exon7:c.1865-2A>C;ENST00000586434:exon7:c.1865-2A>C)	.	.	0.999978986619032	0.938
18	77221309	A	G	18	79461309	y	y	splicing	NFATC1(NM_001278670:exon7:c.1904-2A>G;NM_006162:exon7:c.1904-2A>G;NM_172388:exon6:c.488-2A>G;NM_001278669:exon7:c.1904-2A>G;NM_172390:exon7:c.1904-2A>G;NM_172387:exon7:c.1865-2A>G;NM_001278675:exon7:c.1865-2A>G;NM_001278672:exon7:c.1865-2A>G;NM_172389:exon7:c.1865-2A>G;NM_001278673:exon6:c.488-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1904-2A>G;ENST00000591814:exon7:c.1904-2A>G;ENST00000397790:exon6:c.488-2A>G;ENST00000587635:exon7:c.1819-2A>G;ENST00000427363:exon7:c.1904-2A>G;ENST00000542384:exon7:c.1904-2A>G;ENST00000318065:exon7:c.1865-2A>G;ENST00000545796:exon6:c.488-2A>G;ENST00000590313:exon6:c.766-2A>G;ENST00000592223:exon7:c.1865-2A>G;ENST00000329101:exon7:c.1865-2A>G;ENST00000586434:exon7:c.1865-2A>G)	.	.	0.999978986619032	0.938
18	77221309	A	T	18	79461309	y	y	splicing	NFATC1(NM_001278670:exon7:c.1904-2A>T;NM_006162:exon7:c.1904-2A>T;NM_172388:exon6:c.488-2A>T;NM_001278669:exon7:c.1904-2A>T;NM_172390:exon7:c.1904-2A>T;NM_172387:exon7:c.1865-2A>T;NM_001278675:exon7:c.1865-2A>T;NM_001278672:exon7:c.1865-2A>T;NM_172389:exon7:c.1865-2A>T;NM_001278673:exon6:c.488-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1904-2A>T;ENST00000591814:exon7:c.1904-2A>T;ENST00000397790:exon6:c.488-2A>T;ENST00000587635:exon7:c.1819-2A>T;ENST00000427363:exon7:c.1904-2A>T;ENST00000542384:exon7:c.1904-2A>T;ENST00000318065:exon7:c.1865-2A>T;ENST00000545796:exon6:c.488-2A>T;ENST00000590313:exon6:c.766-2A>T;ENST00000592223:exon7:c.1865-2A>T;ENST00000329101:exon7:c.1865-2A>T;ENST00000586434:exon7:c.1865-2A>T)	.	.	0.999978986619032	0.944
18	77221310	G	A	18	79461310	y	y	splicing	NFATC1(NM_001278670:exon7:c.1904-1G>A;NM_006162:exon7:c.1904-1G>A;NM_172388:exon6:c.488-1G>A;NM_001278669:exon7:c.1904-1G>A;NM_172390:exon7:c.1904-1G>A;NM_172387:exon7:c.1865-1G>A;NM_001278675:exon7:c.1865-1G>A;NM_001278672:exon7:c.1865-1G>A;NM_172389:exon7:c.1865-1G>A;NM_001278673:exon6:c.488-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1904-1G>A;ENST00000591814:exon7:c.1904-1G>A;ENST00000397790:exon6:c.488-1G>A;ENST00000587635:exon7:c.1819-1G>A;ENST00000427363:exon7:c.1904-1G>A;ENST00000542384:exon7:c.1904-1G>A;ENST00000318065:exon7:c.1865-1G>A;ENST00000545796:exon6:c.488-1G>A;ENST00000590313:exon6:c.766-1G>A;ENST00000592223:exon7:c.1865-1G>A;ENST00000329101:exon7:c.1865-1G>A;ENST00000586434:exon7:c.1865-1G>A)	.	.	0.99994568797423	0.944
18	77221310	G	C	18	79461310	y	y	splicing	NFATC1(NM_001278670:exon7:c.1904-1G>C;NM_006162:exon7:c.1904-1G>C;NM_172388:exon6:c.488-1G>C;NM_001278669:exon7:c.1904-1G>C;NM_172390:exon7:c.1904-1G>C;NM_172387:exon7:c.1865-1G>C;NM_001278675:exon7:c.1865-1G>C;NM_001278672:exon7:c.1865-1G>C;NM_172389:exon7:c.1865-1G>C;NM_001278673:exon6:c.488-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1904-1G>C;ENST00000591814:exon7:c.1904-1G>C;ENST00000397790:exon6:c.488-1G>C;ENST00000587635:exon7:c.1819-1G>C;ENST00000427363:exon7:c.1904-1G>C;ENST00000542384:exon7:c.1904-1G>C;ENST00000318065:exon7:c.1865-1G>C;ENST00000545796:exon6:c.488-1G>C;ENST00000590313:exon6:c.766-1G>C;ENST00000592223:exon7:c.1865-1G>C;ENST00000329101:exon7:c.1865-1G>C;ENST00000586434:exon7:c.1865-1G>C)	.	.	0.999946188727699	0.942
18	77221310	G	T	18	79461310	y	y	splicing	NFATC1(NM_001278670:exon7:c.1904-1G>T;NM_006162:exon7:c.1904-1G>T;NM_172388:exon6:c.488-1G>T;NM_001278669:exon7:c.1904-1G>T;NM_172390:exon7:c.1904-1G>T;NM_172387:exon7:c.1865-1G>T;NM_001278675:exon7:c.1865-1G>T;NM_001278672:exon7:c.1865-1G>T;NM_172389:exon7:c.1865-1G>T;NM_001278673:exon6:c.488-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1904-1G>T;ENST00000591814:exon7:c.1904-1G>T;ENST00000397790:exon6:c.488-1G>T;ENST00000587635:exon7:c.1819-1G>T;ENST00000427363:exon7:c.1904-1G>T;ENST00000542384:exon7:c.1904-1G>T;ENST00000318065:exon7:c.1865-1G>T;ENST00000545796:exon6:c.488-1G>T;ENST00000590313:exon6:c.766-1G>T;ENST00000592223:exon7:c.1865-1G>T;ENST00000329101:exon7:c.1865-1G>T;ENST00000586434:exon7:c.1865-1G>T)	.	.	0.999946188727699	0.946
18	77221311	A	C	18	79461311	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.A1904C:p.D635A;NFATC1:NM_001278672:exon7:c.A1865C:p.D622A;NFATC1:NM_172387:exon7:c.A1865C:p.D622A;NFATC1:NM_001278673:exon6:c.A488C:p.D163A;NFATC1:NM_006162:exon7:c.A1904C:p.D635A;NFATC1:NM_001278675:exon7:c.A1865C:p.D622A;NFATC1:NM_172388:exon6:c.A488C:p.D163A;NFATC1:NM_172390:exon7:c.A1904C:p.D635A;NFATC1:NM_001278670:exon7:c.A1904C:p.D635A;NFATC1:NM_172389:exon7:c.A1865C:p.D622A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.A1904C:p.D635A;ENSG00000131196:ENST00000318065:exon7:c.A1865C:p.D622A;ENSG00000131196:ENST00000329101:exon7:c.A1865C:p.D622A;ENSG00000131196:ENST00000427363:exon7:c.A1904C:p.D635A;ENSG00000131196:ENST00000542384:exon7:c.A1904C:p.D635A;ENSG00000131196:ENST00000586434:exon7:c.A1865C:p.D622A;ENSG00000131196:ENST00000591814:exon7:c.A1904C:p.D635A;ENSG00000131196:ENST00000397790:exon6:c.A488C:p.D163A;ENSG00000131196:ENST00000545796:exon6:c.A488C:p.D163A;ENSG00000131196:ENST00000592223:exon7:c.A1865C:p.D622A;ENSG00000131196:ENST00000587635:exon7:c.A1819C:p.M607L;	0.0771404620014522	0.428
18	77221311	A	G	18	79461311	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.A1904G:p.D635G;NFATC1:NM_001278672:exon7:c.A1865G:p.D622G;NFATC1:NM_172387:exon7:c.A1865G:p.D622G;NFATC1:NM_001278673:exon6:c.A488G:p.D163G;NFATC1:NM_006162:exon7:c.A1904G:p.D635G;NFATC1:NM_001278675:exon7:c.A1865G:p.D622G;NFATC1:NM_172388:exon6:c.A488G:p.D163G;NFATC1:NM_172390:exon7:c.A1904G:p.D635G;NFATC1:NM_001278670:exon7:c.A1904G:p.D635G;NFATC1:NM_172389:exon7:c.A1865G:p.D622G;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.A1904G:p.D635G;ENSG00000131196:ENST00000318065:exon7:c.A1865G:p.D622G;ENSG00000131196:ENST00000329101:exon7:c.A1865G:p.D622G;ENSG00000131196:ENST00000427363:exon7:c.A1904G:p.D635G;ENSG00000131196:ENST00000542384:exon7:c.A1904G:p.D635G;ENSG00000131196:ENST00000586434:exon7:c.A1865G:p.D622G;ENSG00000131196:ENST00000591814:exon7:c.A1904G:p.D635G;ENSG00000131196:ENST00000397790:exon6:c.A488G:p.D163G;ENSG00000131196:ENST00000545796:exon6:c.A488G:p.D163G;ENSG00000131196:ENST00000592223:exon7:c.A1865G:p.D622G;ENSG00000131196:ENST00000587635:exon7:c.A1819G:p.M607V;	0.289769114169218	0.53
18	77221311	A	T	18	79461311	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.A1904T:p.D635V;NFATC1:NM_001278672:exon7:c.A1865T:p.D622V;NFATC1:NM_172387:exon7:c.A1865T:p.D622V;NFATC1:NM_001278673:exon6:c.A488T:p.D163V;NFATC1:NM_006162:exon7:c.A1904T:p.D635V;NFATC1:NM_001278675:exon7:c.A1865T:p.D622V;NFATC1:NM_172388:exon6:c.A488T:p.D163V;NFATC1:NM_172390:exon7:c.A1904T:p.D635V;NFATC1:NM_001278670:exon7:c.A1904T:p.D635V;NFATC1:NM_172389:exon7:c.A1865T:p.D622V;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.A1904T:p.D635V;ENSG00000131196:ENST00000318065:exon7:c.A1865T:p.D622V;ENSG00000131196:ENST00000329101:exon7:c.A1865T:p.D622V;ENSG00000131196:ENST00000427363:exon7:c.A1904T:p.D635V;ENSG00000131196:ENST00000542384:exon7:c.A1904T:p.D635V;ENSG00000131196:ENST00000586434:exon7:c.A1865T:p.D622V;ENSG00000131196:ENST00000591814:exon7:c.A1904T:p.D635V;ENSG00000131196:ENST00000397790:exon6:c.A488T:p.D163V;ENSG00000131196:ENST00000545796:exon6:c.A488T:p.D163V;ENSG00000131196:ENST00000592223:exon7:c.A1865T:p.D622V;ENSG00000131196:ENST00000587635:exon7:c.A1819T:p.M607L;	0.0771404620014522	0.362
18	77221312	T	A	18	79461312	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.T1905A:p.D635E;NFATC1:NM_001278672:exon7:c.T1866A:p.D622E;NFATC1:NM_172387:exon7:c.T1866A:p.D622E;NFATC1:NM_001278673:exon6:c.T489A:p.D163E;NFATC1:NM_006162:exon7:c.T1905A:p.D635E;NFATC1:NM_001278675:exon7:c.T1866A:p.D622E;NFATC1:NM_172388:exon6:c.T489A:p.D163E;NFATC1:NM_172390:exon7:c.T1905A:p.D635E;NFATC1:NM_001278670:exon7:c.T1905A:p.D635E;NFATC1:NM_172389:exon7:c.T1866A:p.D622E;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.T1905A:p.D635E;ENSG00000131196:ENST00000318065:exon7:c.T1866A:p.D622E;ENSG00000131196:ENST00000329101:exon7:c.T1866A:p.D622E;ENSG00000131196:ENST00000427363:exon7:c.T1905A:p.D635E;ENSG00000131196:ENST00000542384:exon7:c.T1905A:p.D635E;ENSG00000131196:ENST00000586434:exon7:c.T1866A:p.D622E;ENSG00000131196:ENST00000591814:exon7:c.T1905A:p.D635E;ENSG00000131196:ENST00000397790:exon6:c.T489A:p.D163E;ENSG00000131196:ENST00000545796:exon6:c.T489A:p.D163E;ENSG00000131196:ENST00000592223:exon7:c.T1866A:p.D622E;ENSG00000131196:ENST00000587635:exon7:c.T1820A:p.M607K;	6.75970688262302E-5	0.032
18	77221312	T	C	18	79461312	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon7:c.T1905C:p.D635D;NFATC1:NM_001278672:exon7:c.T1866C:p.D622D;NFATC1:NM_172387:exon7:c.T1866C:p.D622D;NFATC1:NM_001278673:exon6:c.T489C:p.D163D;NFATC1:NM_006162:exon7:c.T1905C:p.D635D;NFATC1:NM_001278675:exon7:c.T1866C:p.D622D;NFATC1:NM_172388:exon6:c.T489C:p.D163D;NFATC1:NM_172390:exon7:c.T1905C:p.D635D;NFATC1:NM_001278670:exon7:c.T1905C:p.D635D;NFATC1:NM_172389:exon7:c.T1866C:p.D622D;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon7:c.T1820C:p.M607T;	6.51745956521406E-5	0.01
18	77221312	T	G	18	79461312	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.T1905G:p.D635E;NFATC1:NM_001278672:exon7:c.T1866G:p.D622E;NFATC1:NM_172387:exon7:c.T1866G:p.D622E;NFATC1:NM_001278673:exon6:c.T489G:p.D163E;NFATC1:NM_006162:exon7:c.T1905G:p.D635E;NFATC1:NM_001278675:exon7:c.T1866G:p.D622E;NFATC1:NM_172388:exon6:c.T489G:p.D163E;NFATC1:NM_172390:exon7:c.T1905G:p.D635E;NFATC1:NM_001278670:exon7:c.T1905G:p.D635E;NFATC1:NM_172389:exon7:c.T1866G:p.D622E;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.T1905G:p.D635E;ENSG00000131196:ENST00000318065:exon7:c.T1866G:p.D622E;ENSG00000131196:ENST00000329101:exon7:c.T1866G:p.D622E;ENSG00000131196:ENST00000427363:exon7:c.T1905G:p.D635E;ENSG00000131196:ENST00000542384:exon7:c.T1905G:p.D635E;ENSG00000131196:ENST00000586434:exon7:c.T1866G:p.D622E;ENSG00000131196:ENST00000591814:exon7:c.T1905G:p.D635E;ENSG00000131196:ENST00000397790:exon6:c.T489G:p.D163E;ENSG00000131196:ENST00000545796:exon6:c.T489G:p.D163E;ENSG00000131196:ENST00000592223:exon7:c.T1866G:p.D622E;ENSG00000131196:ENST00000587635:exon7:c.T1820G:p.M607R;	4.58206041130691E-5	0.032
18	77221364	C	A	18	79461364	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.C1957A:p.P653T;NFATC1:NM_001278672:exon7:c.C1918A:p.P640T;NFATC1:NM_172387:exon7:c.C1918A:p.P640T;NFATC1:NM_001278673:exon6:c.C541A:p.P181T;NFATC1:NM_006162:exon7:c.C1957A:p.P653T;NFATC1:NM_001278675:exon7:c.C1918A:p.P640T;NFATC1:NM_172388:exon6:c.C541A:p.P181T;NFATC1:NM_172390:exon7:c.C1957A:p.P653T;NFATC1:NM_001278670:exon7:c.C1957A:p.P653T;NFATC1:NM_172389:exon7:c.C1918A:p.P640T;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.C1957A:p.P653T;ENSG00000131196:ENST00000318065:exon7:c.C1918A:p.P640T;ENSG00000131196:ENST00000329101:exon7:c.C1918A:p.P640T;ENSG00000131196:ENST00000427363:exon7:c.C1957A:p.P653T;ENSG00000131196:ENST00000542384:exon7:c.C1957A:p.P653T;ENSG00000131196:ENST00000586434:exon7:c.C1918A:p.P640T;ENSG00000131196:ENST00000591814:exon7:c.C1957A:p.P653T;ENSG00000131196:ENST00000397790:exon6:c.C541A:p.P181T;ENSG00000131196:ENST00000545796:exon6:c.C541A:p.P181T;ENSG00000131196:ENST00000592223:exon7:c.C1918A:p.P640T;ENSG00000131196:ENST00000587635:exon7:c.C1872A:p.S624R;	3.39150338338295E-4	0.012
18	77221364	C	G	18	79461364	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.C1957G:p.P653A;NFATC1:NM_001278672:exon7:c.C1918G:p.P640A;NFATC1:NM_172387:exon7:c.C1918G:p.P640A;NFATC1:NM_001278673:exon6:c.C541G:p.P181A;NFATC1:NM_006162:exon7:c.C1957G:p.P653A;NFATC1:NM_001278675:exon7:c.C1918G:p.P640A;NFATC1:NM_172388:exon6:c.C541G:p.P181A;NFATC1:NM_172390:exon7:c.C1957G:p.P653A;NFATC1:NM_001278670:exon7:c.C1957G:p.P653A;NFATC1:NM_172389:exon7:c.C1918G:p.P640A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.C1957G:p.P653A;ENSG00000131196:ENST00000318065:exon7:c.C1918G:p.P640A;ENSG00000131196:ENST00000329101:exon7:c.C1918G:p.P640A;ENSG00000131196:ENST00000427363:exon7:c.C1957G:p.P653A;ENSG00000131196:ENST00000542384:exon7:c.C1957G:p.P653A;ENSG00000131196:ENST00000586434:exon7:c.C1918G:p.P640A;ENSG00000131196:ENST00000591814:exon7:c.C1957G:p.P653A;ENSG00000131196:ENST00000397790:exon6:c.C541G:p.P181A;ENSG00000131196:ENST00000545796:exon6:c.C541G:p.P181A;ENSG00000131196:ENST00000592223:exon7:c.C1918G:p.P640A;ENSG00000131196:ENST00000587635:exon7:c.C1872G:p.S624R;	1.14070883022039E-4	0.012
18	77221364	C	T	18	79461364	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.C1957T:p.P653S;NFATC1:NM_001278672:exon7:c.C1918T:p.P640S;NFATC1:NM_172387:exon7:c.C1918T:p.P640S;NFATC1:NM_001278673:exon6:c.C541T:p.P181S;NFATC1:NM_006162:exon7:c.C1957T:p.P653S;NFATC1:NM_001278675:exon7:c.C1918T:p.P640S;NFATC1:NM_172388:exon6:c.C541T:p.P181S;NFATC1:NM_172390:exon7:c.C1957T:p.P653S;NFATC1:NM_001278670:exon7:c.C1957T:p.P653S;NFATC1:NM_172389:exon7:c.C1918T:p.P640S;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.C1957T:p.P653S;ENSG00000131196:ENST00000318065:exon7:c.C1918T:p.P640S;ENSG00000131196:ENST00000329101:exon7:c.C1918T:p.P640S;ENSG00000131196:ENST00000427363:exon7:c.C1957T:p.P653S;ENSG00000131196:ENST00000542384:exon7:c.C1957T:p.P653S;ENSG00000131196:ENST00000586434:exon7:c.C1918T:p.P640S;ENSG00000131196:ENST00000591814:exon7:c.C1957T:p.P653S;ENSG00000131196:ENST00000397790:exon6:c.C541T:p.P181S;ENSG00000131196:ENST00000545796:exon6:c.C541T:p.P181S;ENSG00000131196:ENST00000592223:exon7:c.C1918T:p.P640S;	0.00251762714924695	0.142
18	77221365	C	A	18	79461365	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.C1958A:p.P653Q;NFATC1:NM_001278672:exon7:c.C1919A:p.P640Q;NFATC1:NM_172387:exon7:c.C1919A:p.P640Q;NFATC1:NM_001278673:exon6:c.C542A:p.P181Q;NFATC1:NM_006162:exon7:c.C1958A:p.P653Q;NFATC1:NM_001278675:exon7:c.C1919A:p.P640Q;NFATC1:NM_172388:exon6:c.C542A:p.P181Q;NFATC1:NM_172390:exon7:c.C1958A:p.P653Q;NFATC1:NM_001278670:exon7:c.C1958A:p.P653Q;NFATC1:NM_172389:exon7:c.C1919A:p.P640Q;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.C1958A:p.P653Q;ENSG00000131196:ENST00000318065:exon7:c.C1919A:p.P640Q;ENSG00000131196:ENST00000329101:exon7:c.C1919A:p.P640Q;ENSG00000131196:ENST00000427363:exon7:c.C1958A:p.P653Q;ENSG00000131196:ENST00000542384:exon7:c.C1958A:p.P653Q;ENSG00000131196:ENST00000586434:exon7:c.C1919A:p.P640Q;ENSG00000131196:ENST00000591814:exon7:c.C1958A:p.P653Q;ENSG00000131196:ENST00000397790:exon6:c.C542A:p.P181Q;ENSG00000131196:ENST00000545796:exon6:c.C542A:p.P181Q;ENSG00000131196:ENST00000592223:exon7:c.C1919A:p.P640Q;	0.00219989695692827	0.094
18	77221365	C	G	18	79461365	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.C1958G:p.P653R;NFATC1:NM_001278672:exon7:c.C1919G:p.P640R;NFATC1:NM_172387:exon7:c.C1919G:p.P640R;NFATC1:NM_001278673:exon6:c.C542G:p.P181R;NFATC1:NM_006162:exon7:c.C1958G:p.P653R;NFATC1:NM_001278675:exon7:c.C1919G:p.P640R;NFATC1:NM_172388:exon6:c.C542G:p.P181R;NFATC1:NM_172390:exon7:c.C1958G:p.P653R;NFATC1:NM_001278670:exon7:c.C1958G:p.P653R;NFATC1:NM_172389:exon7:c.C1919G:p.P640R;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon7:c.C1958G:p.P653R;ENSG00000131196:ENST00000318065:exon7:c.C1919G:p.P640R;ENSG00000131196:ENST00000329101:exon7:c.C1919G:p.P640R;ENSG00000131196:ENST00000427363:exon7:c.C1958G:p.P653R;ENSG00000131196:ENST00000542384:exon7:c.C1958G:p.P653R;ENSG00000131196:ENST00000586434:exon7:c.C1919G:p.P640R;ENSG00000131196:ENST00000591814:exon7:c.C1958G:p.P653R;ENSG00000131196:ENST00000397790:exon6:c.C542G:p.P181R;ENSG00000131196:ENST00000545796:exon6:c.C542G:p.P181R;ENSG00000131196:ENST00000592223:exon7:c.C1919G:p.P640R;ENSG00000131196:ENST00000587635:exon7:c.C1873G:p.R625G;	0.0434275393434402	0.202
18	77221365	C	T	18	79461365	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon7:c.C1958T:p.P653L;NFATC1:NM_001278672:exon7:c.C1919T:p.P640L;NFATC1:NM_172387:exon7:c.C1919T:p.P640L;NFATC1:NM_001278673:exon6:c.C542T:p.P181L;NFATC1:NM_006162:exon7:c.C1958T:p.P653L;NFATC1:NM_001278675:exon7:c.C1919T:p.P640L;NFATC1:NM_172388:exon6:c.C542T:p.P181L;NFATC1:NM_172390:exon7:c.C1958T:p.P653L;NFATC1:NM_001278670:exon7:c.C1958T:p.P653L;NFATC1:NM_172389:exon7:c.C1919T:p.P640L;	exonic	ENSG00000131196	stopgain SNV	ENSG00000131196:ENST00000587635:exon7:c.C1873T:p.R625X;	0.0193741101638452	0.102
18	77221366	G	A	18	79461366	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon7:c.G1959A:p.P653P;NFATC1:NM_001278672:exon7:c.G1920A:p.P640P;NFATC1:NM_172387:exon7:c.G1920A:p.P640P;NFATC1:NM_001278673:exon6:c.G543A:p.P181P;NFATC1:NM_006162:exon7:c.G1959A:p.P653P;NFATC1:NM_001278675:exon7:c.G1920A:p.P640P;NFATC1:NM_172388:exon6:c.G543A:p.P181P;NFATC1:NM_172390:exon7:c.G1959A:p.P653P;NFATC1:NM_001278670:exon7:c.G1959A:p.P653P;NFATC1:NM_172389:exon7:c.G1920A:p.P640P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon7:c.G1874A:p.R625Q;	0.338554486690973	0.384
18	77221366	G	C	18	79461366	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon7:c.G1959C:p.P653P;NFATC1:NM_001278672:exon7:c.G1920C:p.P640P;NFATC1:NM_172387:exon7:c.G1920C:p.P640P;NFATC1:NM_001278673:exon6:c.G543C:p.P181P;NFATC1:NM_006162:exon7:c.G1959C:p.P653P;NFATC1:NM_001278675:exon7:c.G1920C:p.P640P;NFATC1:NM_172388:exon6:c.G543C:p.P181P;NFATC1:NM_172390:exon7:c.G1959C:p.P653P;NFATC1:NM_001278670:exon7:c.G1959C:p.P653P;NFATC1:NM_172389:exon7:c.G1920C:p.P640P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon7:c.G1874C:p.R625P;	0.679218724115829	0.432
18	77221366	G	T	18	79461366	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon7:c.G1959T:p.P653P;NFATC1:NM_001278672:exon7:c.G1920T:p.P640P;NFATC1:NM_172387:exon7:c.G1920T:p.P640P;NFATC1:NM_001278673:exon6:c.G543T:p.P181P;NFATC1:NM_006162:exon7:c.G1959T:p.P653P;NFATC1:NM_001278675:exon7:c.G1920T:p.P640P;NFATC1:NM_172388:exon6:c.G543T:p.P181P;NFATC1:NM_172390:exon7:c.G1959T:p.P653P;NFATC1:NM_001278670:exon7:c.G1959T:p.P653P;NFATC1:NM_172389:exon7:c.G1920T:p.P640P;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000587635:exon7:c.G1874T:p.R625L;	0.64375915599296	0.432
18	77221367	G	A	18	79461367	y	y	splicing	NFATC1(NM_001278670:exon7:c.1959+1G>A;NM_006162:exon7:c.1959+1G>A;NM_172388:exon6:c.543+1G>A;NM_001278669:exon7:c.1959+1G>A;NM_172390:exon7:c.1959+1G>A;NM_172387:exon7:c.1920+1G>A;NM_001278675:exon7:c.1920+1G>A;NM_001278672:exon7:c.1920+1G>A;NM_172389:exon7:c.1920+1G>A;NM_001278673:exon6:c.543+1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1959+1G>A;ENST00000591814:exon7:c.1959+1G>A;ENST00000397790:exon6:c.543+1G>A;ENST00000587635:exon7:c.1874+1G>A;ENST00000427363:exon7:c.1959+1G>A;ENST00000542384:exon7:c.1959+1G>A;ENST00000318065:exon7:c.1920+1G>A;ENST00000545796:exon6:c.543+1G>A;ENST00000590313:exon6:c.821+1G>A;ENST00000592223:exon7:c.1920+1G>A;ENST00000329101:exon7:c.1920+1G>A;ENST00000586434:exon7:c.1920+1G>A)	.	.	0.999946188727699	0.936
18	77221367	G	C	18	79461367	y	y	splicing	NFATC1(NM_001278670:exon7:c.1959+1G>C;NM_006162:exon7:c.1959+1G>C;NM_172388:exon6:c.543+1G>C;NM_001278669:exon7:c.1959+1G>C;NM_172390:exon7:c.1959+1G>C;NM_172387:exon7:c.1920+1G>C;NM_001278675:exon7:c.1920+1G>C;NM_001278672:exon7:c.1920+1G>C;NM_172389:exon7:c.1920+1G>C;NM_001278673:exon6:c.543+1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1959+1G>C;ENST00000591814:exon7:c.1959+1G>C;ENST00000397790:exon6:c.543+1G>C;ENST00000587635:exon7:c.1874+1G>C;ENST00000427363:exon7:c.1959+1G>C;ENST00000542384:exon7:c.1959+1G>C;ENST00000318065:exon7:c.1920+1G>C;ENST00000545796:exon6:c.543+1G>C;ENST00000590313:exon6:c.821+1G>C;ENST00000592223:exon7:c.1920+1G>C;ENST00000329101:exon7:c.1920+1G>C;ENST00000586434:exon7:c.1920+1G>C)	.	.	0.999964896440643	0.932
18	77221367	G	T	18	79461367	y	y	splicing	NFATC1(NM_001278670:exon7:c.1959+1G>T;NM_006162:exon7:c.1959+1G>T;NM_172388:exon6:c.543+1G>T;NM_001278669:exon7:c.1959+1G>T;NM_172390:exon7:c.1959+1G>T;NM_172387:exon7:c.1920+1G>T;NM_001278675:exon7:c.1920+1G>T;NM_001278672:exon7:c.1920+1G>T;NM_172389:exon7:c.1920+1G>T;NM_001278673:exon6:c.543+1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1959+1G>T;ENST00000591814:exon7:c.1959+1G>T;ENST00000397790:exon6:c.543+1G>T;ENST00000587635:exon7:c.1874+1G>T;ENST00000427363:exon7:c.1959+1G>T;ENST00000542384:exon7:c.1959+1G>T;ENST00000318065:exon7:c.1920+1G>T;ENST00000545796:exon6:c.543+1G>T;ENST00000590313:exon6:c.821+1G>T;ENST00000592223:exon7:c.1920+1G>T;ENST00000329101:exon7:c.1920+1G>T;ENST00000586434:exon7:c.1920+1G>T)	.	.	0.999964896440643	0.934
18	77221368	T	A	18	79461368	y	y	splicing	NFATC1(NM_001278670:exon7:c.1959+2T>A;NM_006162:exon7:c.1959+2T>A;NM_172388:exon6:c.543+2T>A;NM_001278669:exon7:c.1959+2T>A;NM_172390:exon7:c.1959+2T>A;NM_172387:exon7:c.1920+2T>A;NM_001278675:exon7:c.1920+2T>A;NM_001278672:exon7:c.1920+2T>A;NM_172389:exon7:c.1920+2T>A;NM_001278673:exon6:c.543+2T>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1959+2T>A;ENST00000591814:exon7:c.1959+2T>A;ENST00000397790:exon6:c.543+2T>A;ENST00000587635:exon7:c.1874+2T>A;ENST00000427363:exon7:c.1959+2T>A;ENST00000542384:exon7:c.1959+2T>A;ENST00000318065:exon7:c.1920+2T>A;ENST00000545796:exon6:c.543+2T>A;ENST00000590313:exon6:c.821+2T>A;ENST00000592223:exon7:c.1920+2T>A;ENST00000329101:exon7:c.1920+2T>A;ENST00000586434:exon7:c.1920+2T>A)	.	.	0.999988781533968	0.936
18	77221368	T	C	18	79461368	y	y	splicing	NFATC1(NM_001278670:exon7:c.1959+2T>C;NM_006162:exon7:c.1959+2T>C;NM_172388:exon6:c.543+2T>C;NM_001278669:exon7:c.1959+2T>C;NM_172390:exon7:c.1959+2T>C;NM_172387:exon7:c.1920+2T>C;NM_001278675:exon7:c.1920+2T>C;NM_001278672:exon7:c.1920+2T>C;NM_172389:exon7:c.1920+2T>C;NM_001278673:exon6:c.543+2T>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1959+2T>C;ENST00000591814:exon7:c.1959+2T>C;ENST00000397790:exon6:c.543+2T>C;ENST00000587635:exon7:c.1874+2T>C;ENST00000427363:exon7:c.1959+2T>C;ENST00000542384:exon7:c.1959+2T>C;ENST00000318065:exon7:c.1920+2T>C;ENST00000545796:exon6:c.543+2T>C;ENST00000590313:exon6:c.821+2T>C;ENST00000592223:exon7:c.1920+2T>C;ENST00000329101:exon7:c.1920+2T>C;ENST00000586434:exon7:c.1920+2T>C)	.	.	0.999948443942025	0.886
18	77221368	T	G	18	79461368	y	y	splicing	NFATC1(NM_001278670:exon7:c.1959+2T>G;NM_006162:exon7:c.1959+2T>G;NM_172388:exon6:c.543+2T>G;NM_001278669:exon7:c.1959+2T>G;NM_172390:exon7:c.1959+2T>G;NM_172387:exon7:c.1920+2T>G;NM_001278675:exon7:c.1920+2T>G;NM_001278672:exon7:c.1920+2T>G;NM_172389:exon7:c.1920+2T>G;NM_001278673:exon6:c.543+2T>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon7:c.1959+2T>G;ENST00000591814:exon7:c.1959+2T>G;ENST00000397790:exon6:c.543+2T>G;ENST00000587635:exon7:c.1874+2T>G;ENST00000427363:exon7:c.1959+2T>G;ENST00000542384:exon7:c.1959+2T>G;ENST00000318065:exon7:c.1920+2T>G;ENST00000545796:exon6:c.543+2T>G;ENST00000590313:exon6:c.821+2T>G;ENST00000592223:exon7:c.1920+2T>G;ENST00000329101:exon7:c.1920+2T>G;ENST00000586434:exon7:c.1920+2T>G)	.	.	0.999988781533968	0.932
18	77221369	G	A	18	79461369	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.04499888154402E-5	0.0
18	77221369	G	C	18	79461369	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.106548291194558	0.372
18	77221369	G	T	18	79461369	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.274153106581057	0.43
18	77221370	A	C	18	79461370	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.83547702718361	0.518
18	77221370	A	G	18	79461370	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.976086966505247	0.728
18	77221370	A	T	18	79461370	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.950186778648835	0.622
18	77221371	G	A	18	79461371	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.998960720878912	0.932
18	77221371	G	C	18	79461371	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999777912728264	0.944
18	77221371	G	T	18	79461371	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999364567671032	0.886
18	77221372	T	A	18	79461372	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0428304219220663	0.166
18	77221372	T	C	18	79461372	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0313145037869485	0.262
18	77221372	T	G	18	79461372	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.10144333311373E-4	0.106
18	77221373	G	A	18	79461373	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.55869924932381E-5	0.0
18	77221373	G	C	18	79461373	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.44454674516076E-5	0.0
18	77221373	G	T	18	79461373	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.48921740173532E-5	0.0
18	77221374	C	A	18	79461374	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.26824569549532E-5	0.0
18	77221374	C	G	18	79461374	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.585416616557E-5	0.0
18	77221374	C	T	18	79461374	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.26824569549532E-5	0.0
18	77227438	C	A	18	79467438	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.14298600956998E-5	0.0
18	77227438	C	G	18	79467438	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	6.57133244872178E-5	0.02
18	77227438	C	T	18	79467438	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.52846510628033E-5	0.0
18	77227439	T	A	18	79467439	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00337550925907171	0.194
18	77227439	T	C	18	79467439	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.6371639812698E-4	0.074
18	77227439	T	G	18	79467439	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00233234216525509	0.174
18	77227440	T	A	18	79467440	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00153417193393851	0.1
18	77227440	T	C	18	79467440	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.17114263566781E-5	0.002
18	77227440	T	G	18	79467440	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00130183760549674	0.07
18	77227441	C	A	18	79467441	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.32067658512198E-4	0.026
18	77227441	C	G	18	79467441	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.12990154013944E-4	0.034
18	77227441	C	T	18	79467441	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.4362614662481E-5	0.004
18	77227442	T	A	18	79467442	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.87810816267872E-4	0.038
18	77227442	T	C	18	79467442	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.00285003113439E-5	0.0
18	77227442	T	G	18	79467442	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.61968464392108E-4	0.026
18	77227443	C	A	18	79467443	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.82780361806764E-4	0.012
18	77227443	C	G	18	79467443	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.88419555173291E-4	0.012
18	77227443	C	T	18	79467443	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.19308245999366E-5	0.002
18	77227444	C	A	18	79467444	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.25419491851582E-4	0.142
18	77227444	C	G	18	79467444	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00104854706952058	0.042
18	77227444	C	T	18	79467444	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.34405631574788E-5	0.012
18	77227445	T	A	18	79467445	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.885785389151148	0.726
18	77227445	T	C	18	79467445	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.97349015564619E-5	0.028
18	77227445	T	G	18	79467445	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.22993953030017E-4	0.134
18	77227446	G	A	18	79467446	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.70968254061779E-5	0.0
18	77227446	G	C	18	79467446	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.73773335868433E-5	0.0
18	77227446	G	T	18	79467446	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.79194202264068E-5	0.0
18	77227447	T	A	18	79467447	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0132339714566713	0.136
18	77227447	T	C	18	79467447	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.39984551442132E-4	0.002
18	77227447	T	G	18	79467447	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.898270734971504	0.606
18	77227448	A	C	18	79467448	y	y	splicing	NFATC1(NM_001278670:exon8:c.1960-2A>C;NM_006162:exon8:c.1960-2A>C;NM_172388:exon7:c.544-2A>C;NM_001278669:exon8:c.1960-2A>C;NM_172390:exon8:c.1960-2A>C;NM_172387:exon8:c.1921-2A>C;NM_001278675:exon8:c.1921-2A>C;NM_001278672:exon8:c.1921-2A>C;NM_172389:exon8:c.1921-2A>C;NM_001278673:exon7:c.544-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon8:c.1960-2A>C;ENST00000591814:exon8:c.1960-2A>C;ENST00000397790:exon7:c.544-2A>C;ENST00000587635:exon8:c.1875-2A>C;ENST00000427363:exon8:c.1960-2A>C;ENST00000542384:exon8:c.1960-2A>C;ENST00000318065:exon8:c.1921-2A>C;ENST00000545796:exon7:c.544-2A>C;ENST00000590313:exon7:c.822-2A>C;ENST00000592223:exon8:c.1921-2A>C;ENST00000329101:exon8:c.1921-2A>C;ENST00000586434:exon8:c.1921-2A>C)	.	.	0.999983751017103	0.914
18	77227448	A	G	18	79467448	y	y	splicing	NFATC1(NM_001278670:exon8:c.1960-2A>G;NM_006162:exon8:c.1960-2A>G;NM_172388:exon7:c.544-2A>G;NM_001278669:exon8:c.1960-2A>G;NM_172390:exon8:c.1960-2A>G;NM_172387:exon8:c.1921-2A>G;NM_001278675:exon8:c.1921-2A>G;NM_001278672:exon8:c.1921-2A>G;NM_172389:exon8:c.1921-2A>G;NM_001278673:exon7:c.544-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon8:c.1960-2A>G;ENST00000591814:exon8:c.1960-2A>G;ENST00000397790:exon7:c.544-2A>G;ENST00000587635:exon8:c.1875-2A>G;ENST00000427363:exon8:c.1960-2A>G;ENST00000542384:exon8:c.1960-2A>G;ENST00000318065:exon8:c.1921-2A>G;ENST00000545796:exon7:c.544-2A>G;ENST00000590313:exon7:c.822-2A>G;ENST00000592223:exon8:c.1921-2A>G;ENST00000329101:exon8:c.1921-2A>G;ENST00000586434:exon8:c.1921-2A>G)	.	.	0.999983751017103	0.912
18	77227448	A	T	18	79467448	y	y	splicing	NFATC1(NM_001278670:exon8:c.1960-2A>T;NM_006162:exon8:c.1960-2A>T;NM_172388:exon7:c.544-2A>T;NM_001278669:exon8:c.1960-2A>T;NM_172390:exon8:c.1960-2A>T;NM_172387:exon8:c.1921-2A>T;NM_001278675:exon8:c.1921-2A>T;NM_001278672:exon8:c.1921-2A>T;NM_172389:exon8:c.1921-2A>T;NM_001278673:exon7:c.544-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon8:c.1960-2A>T;ENST00000591814:exon8:c.1960-2A>T;ENST00000397790:exon7:c.544-2A>T;ENST00000587635:exon8:c.1875-2A>T;ENST00000427363:exon8:c.1960-2A>T;ENST00000542384:exon8:c.1960-2A>T;ENST00000318065:exon8:c.1921-2A>T;ENST00000545796:exon7:c.544-2A>T;ENST00000590313:exon7:c.822-2A>T;ENST00000592223:exon8:c.1921-2A>T;ENST00000329101:exon8:c.1921-2A>T;ENST00000586434:exon8:c.1921-2A>T)	.	.	0.999984298712381	0.932
18	77227449	G	A	18	79467449	y	y	splicing	NFATC1(NM_001278670:exon8:c.1960-1G>A;NM_006162:exon8:c.1960-1G>A;NM_172388:exon7:c.544-1G>A;NM_001278669:exon8:c.1960-1G>A;NM_172390:exon8:c.1960-1G>A;NM_172387:exon8:c.1921-1G>A;NM_001278675:exon8:c.1921-1G>A;NM_001278672:exon8:c.1921-1G>A;NM_172389:exon8:c.1921-1G>A;NM_001278673:exon7:c.544-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon8:c.1960-1G>A;ENST00000591814:exon8:c.1960-1G>A;ENST00000397790:exon7:c.544-1G>A;ENST00000587635:exon8:c.1875-1G>A;ENST00000427363:exon8:c.1960-1G>A;ENST00000542384:exon8:c.1960-1G>A;ENST00000318065:exon8:c.1921-1G>A;ENST00000545796:exon7:c.544-1G>A;ENST00000590313:exon7:c.822-1G>A;ENST00000592223:exon8:c.1921-1G>A;ENST00000329101:exon8:c.1921-1G>A;ENST00000586434:exon8:c.1921-1G>A)	.	.	0.999916487880886	0.936
18	77227449	G	C	18	79467449	y	y	splicing	NFATC1(NM_001278670:exon8:c.1960-1G>C;NM_006162:exon8:c.1960-1G>C;NM_172388:exon7:c.544-1G>C;NM_001278669:exon8:c.1960-1G>C;NM_172390:exon8:c.1960-1G>C;NM_172387:exon8:c.1921-1G>C;NM_001278675:exon8:c.1921-1G>C;NM_001278672:exon8:c.1921-1G>C;NM_172389:exon8:c.1921-1G>C;NM_001278673:exon7:c.544-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon8:c.1960-1G>C;ENST00000591814:exon8:c.1960-1G>C;ENST00000397790:exon7:c.544-1G>C;ENST00000587635:exon8:c.1875-1G>C;ENST00000427363:exon8:c.1960-1G>C;ENST00000542384:exon8:c.1960-1G>C;ENST00000318065:exon8:c.1921-1G>C;ENST00000545796:exon7:c.544-1G>C;ENST00000590313:exon7:c.822-1G>C;ENST00000592223:exon8:c.1921-1G>C;ENST00000329101:exon8:c.1921-1G>C;ENST00000586434:exon8:c.1921-1G>C)	.	.	0.999945520654368	0.942
18	77227449	G	T	18	79467449	y	y	splicing	NFATC1(NM_001278670:exon8:c.1960-1G>T;NM_006162:exon8:c.1960-1G>T;NM_172388:exon7:c.544-1G>T;NM_001278669:exon8:c.1960-1G>T;NM_172390:exon8:c.1960-1G>T;NM_172387:exon8:c.1921-1G>T;NM_001278675:exon8:c.1921-1G>T;NM_001278672:exon8:c.1921-1G>T;NM_172389:exon8:c.1921-1G>T;NM_001278673:exon7:c.544-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon8:c.1960-1G>T;ENST00000591814:exon8:c.1960-1G>T;ENST00000397790:exon7:c.544-1G>T;ENST00000587635:exon8:c.1875-1G>T;ENST00000427363:exon8:c.1960-1G>T;ENST00000542384:exon8:c.1960-1G>T;ENST00000318065:exon8:c.1921-1G>T;ENST00000545796:exon7:c.544-1G>T;ENST00000590313:exon7:c.822-1G>T;ENST00000592223:exon8:c.1921-1G>T;ENST00000329101:exon8:c.1921-1G>T;ENST00000586434:exon8:c.1921-1G>T)	.	.	0.999916487880886	0.944
18	77227450	A	C	18	79467450	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon8:c.A1960C:p.N654H;NFATC1:NM_001278672:exon8:c.A1921C:p.N641H;NFATC1:NM_172387:exon8:c.A1921C:p.N641H;NFATC1:NM_001278673:exon7:c.A544C:p.N182H;NFATC1:NM_006162:exon8:c.A1960C:p.N654H;NFATC1:NM_001278675:exon8:c.A1921C:p.N641H;NFATC1:NM_172388:exon7:c.A544C:p.N182H;NFATC1:NM_172390:exon8:c.A1960C:p.N654H;NFATC1:NM_001278670:exon8:c.A1960C:p.N654H;NFATC1:NM_172389:exon8:c.A1921C:p.N641H;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon8:c.A1960C:p.N654H;ENSG00000131196:ENST00000318065:exon8:c.A1921C:p.N641H;ENSG00000131196:ENST00000329101:exon8:c.A1921C:p.N641H;ENSG00000131196:ENST00000427363:exon8:c.A1960C:p.N654H;ENSG00000131196:ENST00000542384:exon8:c.A1960C:p.N654H;ENSG00000131196:ENST00000586434:exon8:c.A1921C:p.N641H;ENSG00000131196:ENST00000591814:exon8:c.A1960C:p.N654H;ENSG00000131196:ENST00000397790:exon7:c.A544C:p.N182H;ENSG00000131196:ENST00000545796:exon7:c.A544C:p.N182H;ENSG00000131196:ENST00000592223:exon8:c.A1921C:p.N641H;	6.39571705246332E-4	0.058
18	77227450	A	G	18	79467450	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon8:c.A1960G:p.N654D;NFATC1:NM_001278672:exon8:c.A1921G:p.N641D;NFATC1:NM_172387:exon8:c.A1921G:p.N641D;NFATC1:NM_001278673:exon7:c.A544G:p.N182D;NFATC1:NM_006162:exon8:c.A1960G:p.N654D;NFATC1:NM_001278675:exon8:c.A1921G:p.N641D;NFATC1:NM_172388:exon7:c.A544G:p.N182D;NFATC1:NM_172390:exon8:c.A1960G:p.N654D;NFATC1:NM_001278670:exon8:c.A1960G:p.N654D;NFATC1:NM_172389:exon8:c.A1921G:p.N641D;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon8:c.A1960G:p.N654D;ENSG00000131196:ENST00000318065:exon8:c.A1921G:p.N641D;ENSG00000131196:ENST00000329101:exon8:c.A1921G:p.N641D;ENSG00000131196:ENST00000427363:exon8:c.A1960G:p.N654D;ENSG00000131196:ENST00000542384:exon8:c.A1960G:p.N654D;ENSG00000131196:ENST00000586434:exon8:c.A1921G:p.N641D;ENSG00000131196:ENST00000591814:exon8:c.A1960G:p.N654D;ENSG00000131196:ENST00000397790:exon7:c.A544G:p.N182D;ENSG00000131196:ENST00000545796:exon7:c.A544G:p.N182D;ENSG00000131196:ENST00000592223:exon8:c.A1921G:p.N641D;	4.21071176525157E-4	0.01
18	77227450	A	T	18	79467450	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon8:c.A1960T:p.N654Y;NFATC1:NM_001278672:exon8:c.A1921T:p.N641Y;NFATC1:NM_172387:exon8:c.A1921T:p.N641Y;NFATC1:NM_001278673:exon7:c.A544T:p.N182Y;NFATC1:NM_006162:exon8:c.A1960T:p.N654Y;NFATC1:NM_001278675:exon8:c.A1921T:p.N641Y;NFATC1:NM_172388:exon7:c.A544T:p.N182Y;NFATC1:NM_172390:exon8:c.A1960T:p.N654Y;NFATC1:NM_001278670:exon8:c.A1960T:p.N654Y;NFATC1:NM_172389:exon8:c.A1921T:p.N641Y;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon8:c.A1960T:p.N654Y;ENSG00000131196:ENST00000318065:exon8:c.A1921T:p.N641Y;ENSG00000131196:ENST00000329101:exon8:c.A1921T:p.N641Y;ENSG00000131196:ENST00000427363:exon8:c.A1960T:p.N654Y;ENSG00000131196:ENST00000542384:exon8:c.A1960T:p.N654Y;ENSG00000131196:ENST00000586434:exon8:c.A1921T:p.N641Y;ENSG00000131196:ENST00000591814:exon8:c.A1960T:p.N654Y;ENSG00000131196:ENST00000397790:exon7:c.A544T:p.N182Y;ENSG00000131196:ENST00000545796:exon7:c.A544T:p.N182Y;ENSG00000131196:ENST00000592223:exon8:c.A1921T:p.N641Y;	0.0148552822432997	0.102
18	77227451	A	C	18	79467451	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon8:c.A1961C:p.N654T;NFATC1:NM_001278672:exon8:c.A1922C:p.N641T;NFATC1:NM_172387:exon8:c.A1922C:p.N641T;NFATC1:NM_001278673:exon7:c.A545C:p.N182T;NFATC1:NM_006162:exon8:c.A1961C:p.N654T;NFATC1:NM_001278675:exon8:c.A1922C:p.N641T;NFATC1:NM_172388:exon7:c.A545C:p.N182T;NFATC1:NM_172390:exon8:c.A1961C:p.N654T;NFATC1:NM_001278670:exon8:c.A1961C:p.N654T;NFATC1:NM_172389:exon8:c.A1922C:p.N641T;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon8:c.A1961C:p.N654T;ENSG00000131196:ENST00000318065:exon8:c.A1922C:p.N641T;ENSG00000131196:ENST00000329101:exon8:c.A1922C:p.N641T;ENSG00000131196:ENST00000427363:exon8:c.A1961C:p.N654T;ENSG00000131196:ENST00000542384:exon8:c.A1961C:p.N654T;ENSG00000131196:ENST00000586434:exon8:c.A1922C:p.N641T;ENSG00000131196:ENST00000591814:exon8:c.A1961C:p.N654T;ENSG00000131196:ENST00000397790:exon7:c.A545C:p.N182T;ENSG00000131196:ENST00000545796:exon7:c.A545C:p.N182T;ENSG00000131196:ENST00000592223:exon8:c.A1922C:p.N641T;ENSG00000131196:ENST00000587635:exon8:c.A1876C:p.I626L;	1.35942502205499E-4	0.024
18	77227451	A	G	18	79467451	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon8:c.A1961G:p.N654S;NFATC1:NM_001278672:exon8:c.A1922G:p.N641S;NFATC1:NM_172387:exon8:c.A1922G:p.N641S;NFATC1:NM_001278673:exon7:c.A545G:p.N182S;NFATC1:NM_006162:exon8:c.A1961G:p.N654S;NFATC1:NM_001278675:exon8:c.A1922G:p.N641S;NFATC1:NM_172388:exon7:c.A545G:p.N182S;NFATC1:NM_172390:exon8:c.A1961G:p.N654S;NFATC1:NM_001278670:exon8:c.A1961G:p.N654S;NFATC1:NM_172389:exon8:c.A1922G:p.N641S;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon8:c.A1961G:p.N654S;ENSG00000131196:ENST00000318065:exon8:c.A1922G:p.N641S;ENSG00000131196:ENST00000329101:exon8:c.A1922G:p.N641S;ENSG00000131196:ENST00000427363:exon8:c.A1961G:p.N654S;ENSG00000131196:ENST00000542384:exon8:c.A1961G:p.N654S;ENSG00000131196:ENST00000586434:exon8:c.A1922G:p.N641S;ENSG00000131196:ENST00000591814:exon8:c.A1961G:p.N654S;ENSG00000131196:ENST00000397790:exon7:c.A545G:p.N182S;ENSG00000131196:ENST00000545796:exon7:c.A545G:p.N182S;ENSG00000131196:ENST00000592223:exon8:c.A1922G:p.N641S;ENSG00000131196:ENST00000587635:exon8:c.A1876G:p.I626V;	2.31870385302409E-4	0.072
18	77227451	A	T	18	79467451	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon8:c.A1961T:p.N654I;NFATC1:NM_001278672:exon8:c.A1922T:p.N641I;NFATC1:NM_172387:exon8:c.A1922T:p.N641I;NFATC1:NM_001278673:exon7:c.A545T:p.N182I;NFATC1:NM_006162:exon8:c.A1961T:p.N654I;NFATC1:NM_001278675:exon8:c.A1922T:p.N641I;NFATC1:NM_172388:exon7:c.A545T:p.N182I;NFATC1:NM_172390:exon8:c.A1961T:p.N654I;NFATC1:NM_001278670:exon8:c.A1961T:p.N654I;NFATC1:NM_172389:exon8:c.A1922T:p.N641I;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon8:c.A1961T:p.N654I;ENSG00000131196:ENST00000318065:exon8:c.A1922T:p.N641I;ENSG00000131196:ENST00000329101:exon8:c.A1922T:p.N641I;ENSG00000131196:ENST00000427363:exon8:c.A1961T:p.N654I;ENSG00000131196:ENST00000542384:exon8:c.A1961T:p.N654I;ENSG00000131196:ENST00000586434:exon8:c.A1922T:p.N641I;ENSG00000131196:ENST00000591814:exon8:c.A1961T:p.N654I;ENSG00000131196:ENST00000397790:exon7:c.A545T:p.N182I;ENSG00000131196:ENST00000545796:exon7:c.A545T:p.N182I;ENSG00000131196:ENST00000592223:exon8:c.A1922T:p.N641I;ENSG00000131196:ENST00000587635:exon8:c.A1876T:p.I626F;	0.00131235212023086	0.018
18	77246236	T	A	18	79486236	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.24323400507923E-5	0.01
18	77246236	T	C	18	79486236	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.14715528276767E-5	0.0
18	77246236	T	G	18	79486236	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.93592281039822E-5	0.014
18	77246237	C	A	18	79486237	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.41597031690776E-4	0.044
18	77246237	C	G	18	79486237	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.91340303254292E-5	0.0
18	77246237	C	T	18	79486237	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.26848964498332E-5	0.0
18	77246238	C	A	18	79486238	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.49202773313278E-5	0.05
18	77246238	C	G	18	79486238	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.36569634187548E-5	0.032
18	77246238	C	T	18	79486238	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.97930926640417E-5	0.002
18	77246239	T	A	18	79486239	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.07068462431023E-5	0.15
18	77246239	T	C	18	79486239	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.7845831981453E-5	0.04
18	77246239	T	G	18	79486239	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.51312441848139E-5	0.14
18	77246240	T	A	18	79486240	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.49730410457423E-5	0.014
18	77246240	T	C	18	79486240	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.75419373582549E-6	0.006
18	77246240	T	G	18	79486240	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.44544767912489E-5	0.03
18	77246241	C	A	18	79486241	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.48607931381635E-4	0.242
18	77246241	C	G	18	79486241	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.64608846646458E-4	0.214
18	77246241	C	T	18	79486241	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.59356613365078E-5	0.036
18	77246242	T	A	18	79486242	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.13714319430758E-5	0.004
18	77246242	T	C	18	79486242	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.42235563041828E-5	0.002
18	77246242	T	G	18	79486242	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.25574706303396E-4	0.086
18	77246243	C	A	18	79486243	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.87651023431487E-5	0.06
18	77246243	C	G	18	79486243	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.87651023431487E-5	0.05
18	77246243	C	T	18	79486243	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	3.88248030380711E-5	0.068
18	77246244	A	C	18	79486244	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.79881864496651E-5	0.022
18	77246244	A	G	18	79486244	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.95632918245898E-5	0.008
18	77246244	A	T	18	79486244	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.80300248371604E-5	0.006
18	77246245	C	A	18	79486245	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.588944896612477	0.444
18	77246245	C	G	18	79486245	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999563315110645	0.836
18	77246245	C	T	18	79486245	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0374886193894293	0.318
18	77246246	A	C	18	79486246	y	y	splicing	NFATC1(NM_006162:exon9:c.2093-2A>C;NM_172388:exon8:c.677-2A>C;NM_001278669:exon9:c.2093-2A>C;NM_172387:exon9:c.2054-2A>C;NM_172389:exon9:c.2054-2A>C;NM_001278673:exon8:c.677-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon9:c.2093-2A>C;ENST00000397790:exon8:c.677-2A>C;ENST00000427363:exon9:c.2093-2A>C;ENST00000318065:exon9:c.2054-2A>C;ENST00000545796:exon8:c.677-2A>C;ENST00000590313:exon8:c.955-2A>C;ENST00000329101:exon9:c.2054-2A>C)	.	.	0.999982151912279	0.89
18	77246246	A	G	18	79486246	y	y	splicing	NFATC1(NM_006162:exon9:c.2093-2A>G;NM_172388:exon8:c.677-2A>G;NM_001278669:exon9:c.2093-2A>G;NM_172387:exon9:c.2054-2A>G;NM_172389:exon9:c.2054-2A>G;NM_001278673:exon8:c.677-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon9:c.2093-2A>G;ENST00000397790:exon8:c.677-2A>G;ENST00000427363:exon9:c.2093-2A>G;ENST00000318065:exon9:c.2054-2A>G;ENST00000545796:exon8:c.677-2A>G;ENST00000590313:exon8:c.955-2A>G;ENST00000329101:exon9:c.2054-2A>G)	.	.	0.999982151912279	0.886
18	77246246	A	T	18	79486246	y	y	splicing	NFATC1(NM_006162:exon9:c.2093-2A>T;NM_172388:exon8:c.677-2A>T;NM_001278669:exon9:c.2093-2A>T;NM_172387:exon9:c.2054-2A>T;NM_172389:exon9:c.2054-2A>T;NM_001278673:exon8:c.677-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon9:c.2093-2A>T;ENST00000397790:exon8:c.677-2A>T;ENST00000427363:exon9:c.2093-2A>T;ENST00000318065:exon9:c.2054-2A>T;ENST00000545796:exon8:c.677-2A>T;ENST00000590313:exon8:c.955-2A>T;ENST00000329101:exon9:c.2054-2A>T)	.	.	0.999982151912279	0.894
18	77246247	G	A	18	79486247	y	y	splicing	NFATC1(NM_006162:exon9:c.2093-1G>A;NM_172388:exon8:c.677-1G>A;NM_001278669:exon9:c.2093-1G>A;NM_172387:exon9:c.2054-1G>A;NM_172389:exon9:c.2054-1G>A;NM_001278673:exon8:c.677-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon9:c.2093-1G>A;ENST00000397790:exon8:c.677-1G>A;ENST00000427363:exon9:c.2093-1G>A;ENST00000318065:exon9:c.2054-1G>A;ENST00000545796:exon8:c.677-1G>A;ENST00000590313:exon8:c.955-1G>A;ENST00000329101:exon9:c.2054-1G>A)	.	.	0.999945520654368	0.942
18	77246247	G	C	18	79486247	y	y	splicing	NFATC1(NM_006162:exon9:c.2093-1G>C;NM_172388:exon8:c.677-1G>C;NM_001278669:exon9:c.2093-1G>C;NM_172387:exon9:c.2054-1G>C;NM_172389:exon9:c.2054-1G>C;NM_001278673:exon8:c.677-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon9:c.2093-1G>C;ENST00000397790:exon8:c.677-1G>C;ENST00000427363:exon9:c.2093-1G>C;ENST00000318065:exon9:c.2054-1G>C;ENST00000545796:exon8:c.677-1G>C;ENST00000590313:exon8:c.955-1G>C;ENST00000329101:exon9:c.2054-1G>C)	.	.	0.999955485601963	0.906
18	77246247	G	T	18	79486247	y	y	splicing	NFATC1(NM_006162:exon9:c.2093-1G>T;NM_172388:exon8:c.677-1G>T;NM_001278669:exon9:c.2093-1G>T;NM_172387:exon9:c.2054-1G>T;NM_172389:exon9:c.2054-1G>T;NM_001278673:exon8:c.677-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon9:c.2093-1G>T;ENST00000397790:exon8:c.677-1G>T;ENST00000427363:exon9:c.2093-1G>T;ENST00000318065:exon9:c.2054-1G>T;ENST00000545796:exon8:c.677-1G>T;ENST00000590313:exon8:c.955-1G>T;ENST00000329101:exon9:c.2054-1G>T)	.	.	0.999943620371814	0.92
18	77246248	T	A	18	79486248	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.T2093A:p.V698D;NFATC1:NM_172387:exon9:c.T2054A:p.V685D;NFATC1:NM_001278673:exon8:c.T677A:p.V226D;NFATC1:NM_006162:exon9:c.T2093A:p.V698D;NFATC1:NM_172388:exon8:c.T677A:p.V226D;NFATC1:NM_172389:exon9:c.T2054A:p.V685D;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon9:c.T2093A:p.V698D;ENSG00000131196:ENST00000318065:exon9:c.T2054A:p.V685D;ENSG00000131196:ENST00000329101:exon9:c.T2054A:p.V685D;ENSG00000131196:ENST00000427363:exon9:c.T2093A:p.V698D;ENSG00000131196:ENST00000397790:exon8:c.T677A:p.V226D;ENSG00000131196:ENST00000545796:exon8:c.T677A:p.V226D;	2.26477528490622E-4	0.01
18	77246248	T	C	18	79486248	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.T2093C:p.V698A;NFATC1:NM_172387:exon9:c.T2054C:p.V685A;NFATC1:NM_001278673:exon8:c.T677C:p.V226A;NFATC1:NM_006162:exon9:c.T2093C:p.V698A;NFATC1:NM_172388:exon8:c.T677C:p.V226A;NFATC1:NM_172389:exon9:c.T2054C:p.V685A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon9:c.T2093C:p.V698A;ENSG00000131196:ENST00000318065:exon9:c.T2054C:p.V685A;ENSG00000131196:ENST00000329101:exon9:c.T2054C:p.V685A;ENSG00000131196:ENST00000427363:exon9:c.T2093C:p.V698A;ENSG00000131196:ENST00000397790:exon8:c.T677C:p.V226A;ENSG00000131196:ENST00000545796:exon8:c.T677C:p.V226A;	1.38696036953744E-4	0.006
18	77246248	T	G	18	79486248	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.T2093G:p.V698G;NFATC1:NM_172387:exon9:c.T2054G:p.V685G;NFATC1:NM_001278673:exon8:c.T677G:p.V226G;NFATC1:NM_006162:exon9:c.T2093G:p.V698G;NFATC1:NM_172388:exon8:c.T677G:p.V226G;NFATC1:NM_172389:exon9:c.T2054G:p.V685G;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000253506:exon9:c.T2093G:p.V698G;ENSG00000131196:ENST00000318065:exon9:c.T2054G:p.V685G;ENSG00000131196:ENST00000329101:exon9:c.T2054G:p.V685G;ENSG00000131196:ENST00000427363:exon9:c.T2093G:p.V698G;ENSG00000131196:ENST00000397790:exon8:c.T677G:p.V226G;ENSG00000131196:ENST00000545796:exon8:c.T677G:p.V226G;	2.23173072093504E-4	0.114
18	77246249	T	A	18	79486249	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon9:c.T2094A:p.V698V;NFATC1:NM_172387:exon9:c.T2055A:p.V685V;NFATC1:NM_001278673:exon8:c.T678A:p.V226V;NFATC1:NM_006162:exon9:c.T2094A:p.V698V;NFATC1:NM_172388:exon8:c.T678A:p.V226V;NFATC1:NM_172389:exon9:c.T2055A:p.V685V;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon9:c.T2094A:p.V698V;ENSG00000131196:ENST00000318065:exon9:c.T2055A:p.V685V;ENSG00000131196:ENST00000329101:exon9:c.T2055A:p.V685V;ENSG00000131196:ENST00000427363:exon9:c.T2094A:p.V698V;ENSG00000131196:ENST00000397790:exon8:c.T678A:p.V226V;ENSG00000131196:ENST00000545796:exon8:c.T678A:p.V226V;	7.89479413061221E-4	0.038
18	77246249	T	C	18	79486249	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon9:c.T2094C:p.V698V;NFATC1:NM_172387:exon9:c.T2055C:p.V685V;NFATC1:NM_001278673:exon8:c.T678C:p.V226V;NFATC1:NM_006162:exon9:c.T2094C:p.V698V;NFATC1:NM_172388:exon8:c.T678C:p.V226V;NFATC1:NM_172389:exon9:c.T2055C:p.V685V;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon9:c.T2094C:p.V698V;ENSG00000131196:ENST00000318065:exon9:c.T2055C:p.V685V;ENSG00000131196:ENST00000329101:exon9:c.T2055C:p.V685V;ENSG00000131196:ENST00000427363:exon9:c.T2094C:p.V698V;ENSG00000131196:ENST00000397790:exon8:c.T678C:p.V226V;ENSG00000131196:ENST00000545796:exon8:c.T678C:p.V226V;	6.31639891799013E-4	0.038
18	77246249	T	G	18	79486249	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon9:c.T2094G:p.V698V;NFATC1:NM_172387:exon9:c.T2055G:p.V685V;NFATC1:NM_001278673:exon8:c.T678G:p.V226V;NFATC1:NM_006162:exon9:c.T2094G:p.V698V;NFATC1:NM_172388:exon8:c.T678G:p.V226V;NFATC1:NM_172389:exon9:c.T2055G:p.V685V;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon9:c.T2094G:p.V698V;ENSG00000131196:ENST00000318065:exon9:c.T2055G:p.V685V;ENSG00000131196:ENST00000329101:exon9:c.T2055G:p.V685V;ENSG00000131196:ENST00000427363:exon9:c.T2094G:p.V698V;ENSG00000131196:ENST00000397790:exon8:c.T678G:p.V226V;ENSG00000131196:ENST00000545796:exon8:c.T678G:p.V226V;	5.62376453523913E-4	0.014
18	77246935	A	C	18	79486935	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.A2780C:p.D927A;NFATC1:NM_172387:exon9:c.A2741C:p.D914A;NFATC1:NM_001278673:exon8:c.A1364C:p.D455A;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.A2741C:p.D914A;ENSG00000131196:ENST00000427363:exon9:c.A2780C:p.D927A;ENSG00000131196:ENST00000545796:exon8:c.A1364C:p.D455A;	0.386354763598843	0.49
18	77246935	A	G	18	79486935	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.A2780G:p.D927G;NFATC1:NM_172387:exon9:c.A2741G:p.D914G;NFATC1:NM_001278673:exon8:c.A1364G:p.D455G;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.A2741G:p.D914G;ENSG00000131196:ENST00000427363:exon9:c.A2780G:p.D927G;ENSG00000131196:ENST00000545796:exon8:c.A1364G:p.D455G;	0.0733317344037379	0.352
18	77246935	A	T	18	79486935	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.A2780T:p.D927V;NFATC1:NM_172387:exon9:c.A2741T:p.D914V;NFATC1:NM_001278673:exon8:c.A1364T:p.D455V;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.A2741T:p.D914V;ENSG00000131196:ENST00000427363:exon9:c.A2780T:p.D927V;ENSG00000131196:ENST00000545796:exon8:c.A1364T:p.D455V;	0.683002213650074	0.462
18	77246936	C	A	18	79486936	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.C2781A:p.D927E;NFATC1:NM_172387:exon9:c.C2742A:p.D914E;NFATC1:NM_001278673:exon8:c.C1365A:p.D455E;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.C2742A:p.D914E;ENSG00000131196:ENST00000427363:exon9:c.C2781A:p.D927E;ENSG00000131196:ENST00000545796:exon8:c.C1365A:p.D455E;	6.29773342573322E-5	0.142
18	77246936	C	G	18	79486936	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.C2781G:p.D927E;NFATC1:NM_172387:exon9:c.C2742G:p.D914E;NFATC1:NM_001278673:exon8:c.C1365G:p.D455E;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.C2742G:p.D914E;ENSG00000131196:ENST00000427363:exon9:c.C2781G:p.D927E;ENSG00000131196:ENST00000545796:exon8:c.C1365G:p.D455E;	1.9041977810538E-4	0.154
18	77246936	C	T	18	79486936	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon9:c.C2781T:p.D927D;NFATC1:NM_172387:exon9:c.C2742T:p.D914D;NFATC1:NM_001278673:exon8:c.C1365T:p.D455D;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.C2742T:p.D914D;ENSG00000131196:ENST00000427363:exon9:c.C2781T:p.D927D;ENSG00000131196:ENST00000545796:exon8:c.C1365T:p.D455D;	8.80729051452048E-5	0.012
18	77246937	G	A	18	79486937	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.G2782A:p.V928I;NFATC1:NM_172387:exon9:c.G2743A:p.V915I;NFATC1:NM_001278673:exon8:c.G1366A:p.V456I;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.G2743A:p.V915I;ENSG00000131196:ENST00000427363:exon9:c.G2782A:p.V928I;ENSG00000131196:ENST00000545796:exon8:c.G1366A:p.V456I;	0.999935304589496	0.976
18	77246937	G	C	18	79486937	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.G2782C:p.V928L;NFATC1:NM_172387:exon9:c.G2743C:p.V915L;NFATC1:NM_001278673:exon8:c.G1366C:p.V456L;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.G2743C:p.V915L;ENSG00000131196:ENST00000427363:exon9:c.G2782C:p.V928L;ENSG00000131196:ENST00000545796:exon8:c.G1366C:p.V456L;	0.999919880692219	0.99
18	77246937	G	T	18	79486937	y	y	exonic	NFATC1	nonsynonymous SNV	NFATC1:NM_001278669:exon9:c.G2782T:p.V928L;NFATC1:NM_172387:exon9:c.G2743T:p.V915L;NFATC1:NM_001278673:exon8:c.G1366T:p.V456L;	exonic	ENSG00000131196	nonsynonymous SNV	ENSG00000131196:ENST00000329101:exon9:c.G2743T:p.V915L;ENSG00000131196:ENST00000427363:exon9:c.G2782T:p.V928L;ENSG00000131196:ENST00000545796:exon8:c.G1366T:p.V456L;	0.999879978262816	0.936
18	77246938	G	A	18	79486938	y	y	splicing	NFATC1(NM_001278669:exon9:c.2782+1G>A;NM_172387:exon9:c.2743+1G>A;NM_001278673:exon8:c.1366+1G>A)	.	.	splicing	ENSG00000131196(ENST00000427363:exon9:c.2782+1G>A;ENST00000545796:exon8:c.1366+1G>A;ENST00000590313:exon8:c.1644+1G>A;ENST00000329101:exon9:c.2743+1G>A)	.	.	0.999986675681007	0.934
18	77246938	G	C	18	79486938	y	y	splicing	NFATC1(NM_001278669:exon9:c.2782+1G>C;NM_172387:exon9:c.2743+1G>C;NM_001278673:exon8:c.1366+1G>C)	.	.	splicing	ENSG00000131196(ENST00000427363:exon9:c.2782+1G>C;ENST00000545796:exon8:c.1366+1G>C;ENST00000590313:exon8:c.1644+1G>C;ENST00000329101:exon9:c.2743+1G>C)	.	.	0.999986675681007	0.934
18	77246938	G	T	18	79486938	y	y	splicing	NFATC1(NM_001278669:exon9:c.2782+1G>T;NM_172387:exon9:c.2743+1G>T;NM_001278673:exon8:c.1366+1G>T)	.	.	splicing	ENSG00000131196(ENST00000427363:exon9:c.2782+1G>T;ENST00000545796:exon8:c.1366+1G>T;ENST00000590313:exon8:c.1644+1G>T;ENST00000329101:exon9:c.2743+1G>T)	.	.	0.999986675681007	0.934
18	77246939	T	A	18	79486939	y	y	splicing	NFATC1(NM_001278669:exon9:c.2782+2T>A;NM_172387:exon9:c.2743+2T>A;NM_001278673:exon8:c.1366+2T>A)	.	.	splicing	ENSG00000131196(ENST00000427363:exon9:c.2782+2T>A;ENST00000545796:exon8:c.1366+2T>A;ENST00000590313:exon8:c.1644+2T>A;ENST00000329101:exon9:c.2743+2T>A)	.	.	0.999990155693597	0.926
18	77246939	T	C	18	79486939	y	y	splicing	NFATC1(NM_001278669:exon9:c.2782+2T>C;NM_172387:exon9:c.2743+2T>C;NM_001278673:exon8:c.1366+2T>C)	.	.	splicing	ENSG00000131196(ENST00000427363:exon9:c.2782+2T>C;ENST00000545796:exon8:c.1366+2T>C;ENST00000590313:exon8:c.1644+2T>C;ENST00000329101:exon9:c.2743+2T>C)	.	.	0.999928972209748	0.864
18	77246939	T	G	18	79486939	y	y	splicing	NFATC1(NM_001278669:exon9:c.2782+2T>G;NM_172387:exon9:c.2743+2T>G;NM_001278673:exon8:c.1366+2T>G)	.	.	splicing	ENSG00000131196(ENST00000427363:exon9:c.2782+2T>G;ENST00000545796:exon8:c.1366+2T>G;ENST00000590313:exon8:c.1644+2T>G;ENST00000329101:exon9:c.2743+2T>G)	.	.	0.999990155693597	0.926
18	77246940	G	A	18	79486940	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.84498772329806E-5	0.0
18	77246940	G	C	18	79486940	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0239560536848546	0.186
18	77246940	G	T	18	79486940	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.022088732837178	0.244
18	77246941	A	C	18	79486941	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.81475699026147	0.576
18	77246941	A	G	18	79486941	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.988492872996292	0.79
18	77246941	A	T	18	79486941	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.983224527942562	0.808
18	77246942	G	A	18	79486942	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999838967717221	0.986
18	77246942	G	C	18	79486942	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.990571301147102	0.944
18	77246942	G	T	18	79486942	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.996560359999938	0.888
18	77246943	T	A	18	79486943	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.883711903865504	0.592
18	77246943	T	C	18	79486943	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.716421606316351	0.422
18	77246943	T	G	18	79486943	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.475107897144574	0.438
18	77246944	G	A	18	79486944	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.68952365742707E-5	0.004
18	77246944	G	C	18	79486944	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.85240904911172E-5	0.0
18	77246944	G	T	18	79486944	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.68952365742707E-5	0.006
18	77246945	C	A	18	79486945	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.68952365742707E-5	0.018
18	77246945	C	G	18	79486945	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	5.41240305611944E-5	0.004
18	77246945	C	T	18	79486945	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.68952365742707E-5	0.0
18	77287516	C	A	18	79527516	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.81498369831852E-4	0.034
18	77287516	C	G	18	79527516	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.32642450622364E-5	0.014
18	77287516	C	T	18	79527516	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.86814482345709E-5	0.006
18	77287517	T	A	18	79527517	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.002953090219524	0.128
18	77287517	T	C	18	79527517	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.66589998827259E-4	0.044
18	77287517	T	G	18	79527517	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00252524138518781	0.152
18	77287518	T	A	18	79527518	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0223555255962978	0.192
18	77287518	T	C	18	79527518	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.20315741468787E-4	0.032
18	77287518	T	G	18	79527518	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00544302840073764	0.078
18	77287519	T	A	18	79527519	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0026787695700305	0.272
18	77287519	T	C	18	79527519	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00174023035838827	0.04
18	77287519	T	G	18	79527519	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00603729988402148	0.206
18	77287520	T	A	18	79527520	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	4.12262064882761E-4	0.162
18	77287520	T	C	18	79527520	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.68888912776617E-5	0.0
18	77287520	T	G	18	79527520	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.25584691149325E-4	0.086
18	77287521	C	A	18	79527521	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00158668610476632	0.074
18	77287521	C	G	18	79527521	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	2.08107794357478E-4	0.006
18	77287521	C	T	18	79527521	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	9.16985311153064E-5	0.024
18	77287522	T	A	18	79527522	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0351355760034085	0.15
18	77287522	T	C	18	79527522	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.44319932263017E-4	0.0
18	77287522	T	G	18	79527522	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0786792017537455	0.178
18	77287523	T	A	18	79527523	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0067673017024248	0.134
18	77287523	T	C	18	79527523	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	7.73227063013743E-4	0.008
18	77287523	T	G	18	79527523	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.00336898891697782	0.144
18	77287524	A	C	18	79527524	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.2875041425911E-4	0.0
18	77287524	A	G	18	79527524	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	1.2144442075095E-4	0.002
18	77287524	A	T	18	79527524	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	8.82961762033885E-5	0.008
18	77287525	C	A	18	79527525	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.995663120800716	0.764
18	77287525	C	G	18	79527525	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.999499560361679	0.966
18	77287525	C	T	18	79527525	y	y	intronic	NFATC1	.	.	intronic	ENSG00000131196	.	.	0.0831264059935823	0.188
18	77287526	A	C	18	79527526	y	y	splicing	NFATC1(NM_001278670:exon9:c.2093-2A>C;NM_006162:exon10:c.2476-2A>C;NM_172388:exon9:c.1060-2A>C;NM_001278669:exon10:c.2783-2A>C;NM_172387:exon10:c.2744-2A>C;NM_001278672:exon9:c.2054-2A>C;NM_172389:exon10:c.2437-2A>C;NM_001278673:exon9:c.1367-2A>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon10:c.2476-2A>C;ENST00000397790:exon9:c.1060-2A>C;ENST00000427363:exon10:c.2783-2A>C;ENST00000542384:exon9:c.2093-2A>C;ENST00000318065:exon10:c.2437-2A>C;ENST00000545796:exon9:c.1367-2A>C;ENST00000590313:exon9:c.1645-2A>C;ENST00000329101:exon10:c.2744-2A>C;ENST00000586434:exon9:c.2054-2A>C)	.	.	0.999990155693597	0.924
18	77287526	A	G	18	79527526	y	y	splicing	NFATC1(NM_001278670:exon9:c.2093-2A>G;NM_006162:exon10:c.2476-2A>G;NM_172388:exon9:c.1060-2A>G;NM_001278669:exon10:c.2783-2A>G;NM_172387:exon10:c.2744-2A>G;NM_001278672:exon9:c.2054-2A>G;NM_172389:exon10:c.2437-2A>G;NM_001278673:exon9:c.1367-2A>G)	.	.	splicing	ENSG00000131196(ENST00000253506:exon10:c.2476-2A>G;ENST00000397790:exon9:c.1060-2A>G;ENST00000427363:exon10:c.2783-2A>G;ENST00000542384:exon9:c.2093-2A>G;ENST00000318065:exon10:c.2437-2A>G;ENST00000545796:exon9:c.1367-2A>G;ENST00000590313:exon9:c.1645-2A>G;ENST00000329101:exon10:c.2744-2A>G;ENST00000586434:exon9:c.2054-2A>G)	.	.	0.999990155693597	0.924
18	77287526	A	T	18	79527526	y	y	splicing	NFATC1(NM_001278670:exon9:c.2093-2A>T;NM_006162:exon10:c.2476-2A>T;NM_172388:exon9:c.1060-2A>T;NM_001278669:exon10:c.2783-2A>T;NM_172387:exon10:c.2744-2A>T;NM_001278672:exon9:c.2054-2A>T;NM_172389:exon10:c.2437-2A>T;NM_001278673:exon9:c.1367-2A>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon10:c.2476-2A>T;ENST00000397790:exon9:c.1060-2A>T;ENST00000427363:exon10:c.2783-2A>T;ENST00000542384:exon9:c.2093-2A>T;ENST00000318065:exon10:c.2437-2A>T;ENST00000545796:exon9:c.1367-2A>T;ENST00000590313:exon9:c.1645-2A>T;ENST00000329101:exon10:c.2744-2A>T;ENST00000586434:exon9:c.2054-2A>T)	.	.	0.999990155693597	0.924
18	77287527	G	A	18	79527527	y	y	splicing	NFATC1(NM_001278670:exon9:c.2093-1G>A;NM_006162:exon10:c.2476-1G>A;NM_172388:exon9:c.1060-1G>A;NM_001278669:exon10:c.2783-1G>A;NM_172387:exon10:c.2744-1G>A;NM_001278672:exon9:c.2054-1G>A;NM_172389:exon10:c.2437-1G>A;NM_001278673:exon9:c.1367-1G>A)	.	.	splicing	ENSG00000131196(ENST00000253506:exon10:c.2476-1G>A;ENST00000397790:exon9:c.1060-1G>A;ENST00000427363:exon10:c.2783-1G>A;ENST00000542384:exon9:c.2093-1G>A;ENST00000318065:exon10:c.2437-1G>A;ENST00000545796:exon9:c.1367-1G>A;ENST00000590313:exon9:c.1645-1G>A;ENST00000329101:exon10:c.2744-1G>A;ENST00000586434:exon9:c.2054-1G>A)	.	.	0.999986675681007	0.934
18	77287527	G	C	18	79527527	y	y	splicing	NFATC1(NM_001278670:exon9:c.2093-1G>C;NM_006162:exon10:c.2476-1G>C;NM_172388:exon9:c.1060-1G>C;NM_001278669:exon10:c.2783-1G>C;NM_172387:exon10:c.2744-1G>C;NM_001278672:exon9:c.2054-1G>C;NM_172389:exon10:c.2437-1G>C;NM_001278673:exon9:c.1367-1G>C)	.	.	splicing	ENSG00000131196(ENST00000253506:exon10:c.2476-1G>C;ENST00000397790:exon9:c.1060-1G>C;ENST00000427363:exon10:c.2783-1G>C;ENST00000542384:exon9:c.2093-1G>C;ENST00000318065:exon10:c.2437-1G>C;ENST00000545796:exon9:c.1367-1G>C;ENST00000590313:exon9:c.1645-1G>C;ENST00000329101:exon10:c.2744-1G>C;ENST00000586434:exon9:c.2054-1G>C)	.	.	0.999986675681007	0.934
18	77287527	G	T	18	79527527	y	y	splicing	NFATC1(NM_001278670:exon9:c.2093-1G>T;NM_006162:exon10:c.2476-1G>T;NM_172388:exon9:c.1060-1G>T;NM_001278669:exon10:c.2783-1G>T;NM_172387:exon10:c.2744-1G>T;NM_001278672:exon9:c.2054-1G>T;NM_172389:exon10:c.2437-1G>T;NM_001278673:exon9:c.1367-1G>T)	.	.	splicing	ENSG00000131196(ENST00000253506:exon10:c.2476-1G>T;ENST00000397790:exon9:c.1060-1G>T;ENST00000427363:exon10:c.2783-1G>T;ENST00000542384:exon9:c.2093-1G>T;ENST00000318065:exon10:c.2437-1G>T;ENST00000545796:exon9:c.1367-1G>T;ENST00000590313:exon9:c.1645-1G>T;ENST00000329101:exon10:c.2744-1G>T;ENST00000586434:exon9:c.2054-1G>T)	.	.	0.999986675681007	0.922
18	77287528	T	A	18	79527528	y	y	exonic	NFATC1	stoploss SNV	NFATC1:NM_006162:exon10:c.T2476A:p.X826K;NFATC1:NM_172388:exon9:c.T1060A:p.X354K;NFATC1:NM_172389:exon10:c.T2437A:p.X813K;	exonic	ENSG00000131196	stoploss SNV	ENSG00000131196:ENST00000253506:exon10:c.T2476A:p.X826K;ENSG00000131196:ENST00000318065:exon10:c.T2437A:p.X813K;ENSG00000131196:ENST00000397790:exon9:c.T1060A:p.X354K;	0.380177940330388	0.658
18	77287528	T	C	18	79527528	y	y	exonic	NFATC1	stoploss SNV	NFATC1:NM_006162:exon10:c.T2476C:p.X826Q;NFATC1:NM_172388:exon9:c.T1060C:p.X354Q;NFATC1:NM_172389:exon10:c.T2437C:p.X813Q;	exonic	ENSG00000131196	stoploss SNV	ENSG00000131196:ENST00000253506:exon10:c.T2476C:p.X826Q;ENSG00000131196:ENST00000318065:exon10:c.T2437C:p.X813Q;ENSG00000131196:ENST00000397790:exon9:c.T1060C:p.X354Q;	0.399303069724473	0.518
18	77287528	T	G	18	79527528	y	y	exonic	NFATC1	stoploss SNV	NFATC1:NM_006162:exon10:c.T2476G:p.X826E;NFATC1:NM_172388:exon9:c.T1060G:p.X354E;NFATC1:NM_172389:exon10:c.T2437G:p.X813E;	exonic	ENSG00000131196	stoploss SNV	ENSG00000131196:ENST00000253506:exon10:c.T2476G:p.X826E;ENSG00000131196:ENST00000318065:exon10:c.T2437G:p.X813E;ENSG00000131196:ENST00000397790:exon9:c.T1060G:p.X354E;	0.51465008396888	0.608
18	77287529	A	C	18	79527529	y	y	exonic	NFATC1	stoploss SNV	NFATC1:NM_006162:exon10:c.A2477C:p.X826S;NFATC1:NM_172388:exon9:c.A1061C:p.X354S;NFATC1:NM_172389:exon10:c.A2438C:p.X813S;	exonic	ENSG00000131196	stoploss SNV	ENSG00000131196:ENST00000253506:exon10:c.A2477C:p.X826S;ENSG00000131196:ENST00000318065:exon10:c.A2438C:p.X813S;ENSG00000131196:ENST00000397790:exon9:c.A1061C:p.X354S;	0.792524488871882	0.758
18	77287529	A	G	18	79527529	y	y	exonic	NFATC1	synonymous SNV	NFATC1:NM_001278669:exon10:c.A2784G:p.V928V;NFATC1:NM_001278672:exon9:c.A2055G:p.V685V;NFATC1:NM_172387:exon10:c.A2745G:p.V915V;NFATC1:NM_001278673:exon9:c.A1368G:p.V456V;NFATC1:NM_006162:exon10:c.A2477G:p.X826X;NFATC1:NM_172388:exon9:c.A1061G:p.X354X;NFATC1:NM_001278670:exon9:c.A2094G:p.V698V;NFATC1:NM_172389:exon10:c.A2438G:p.X813X;	exonic	ENSG00000131196	synonymous SNV	ENSG00000131196:ENST00000253506:exon10:c.A2477G:p.X826X;ENSG00000131196:ENST00000318065:exon10:c.A2438G:p.X813X;ENSG00000131196:ENST00000329101:exon10:c.A2745G:p.V915V;ENSG00000131196:ENST00000427363:exon10:c.A2784G:p.V928V;ENSG00000131196:ENST00000542384:exon9:c.A2094G:p.V698V;ENSG00000131196:ENST00000586434:exon9:c.A2055G:p.V685V;ENSG00000131196:ENST00000397790:exon9:c.A1061G:p.X354X;ENSG00000131196:ENST00000545796:exon9:c.A1368G:p.V456V;	0.00656021311797849	0.048
18	77287529	A	T	18	79527529	y	y	exonic	NFATC1	stoploss SNV	NFATC1:NM_006162:exon10:c.A2477T:p.X826L;NFATC1:NM_172388:exon9:c.A1061T:p.X354L;NFATC1:NM_172389:exon10:c.A2438T:p.X813L;	exonic	ENSG00000131196	stoploss SNV	ENSG00000131196:ENST00000253506:exon10:c.A2477T:p.X826L;ENSG00000131196:ENST00000318065:exon10:c.A2438T:p.X813L;ENSG00000131196:ENST00000397790:exon9:c.A1061T:p.X354L;	0.618009762008252	0.706
18	77440259	A	C	18	79680259	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon1:c.A312C:p.P104P;CTDP1:NM_048368:exon1:c.A312C:p.P104P;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon1:c.A312C:p.P104P;ENSG00000060069:ENST00000075430:exon1:c.A312C:p.P104P;ENSG00000060069:ENST00000591598:exon1:c.A108C:p.P36P;	6.03436042669959E-5	0.002
18	77440259	A	G	18	79680259	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon1:c.A312G:p.P104P;CTDP1:NM_048368:exon1:c.A312G:p.P104P;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon1:c.A312G:p.P104P;ENSG00000060069:ENST00000075430:exon1:c.A312G:p.P104P;ENSG00000060069:ENST00000591598:exon1:c.A108G:p.P36P;	7.22932386988415E-5	0.002
18	77440259	A	T	18	79680259	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon1:c.A312T:p.P104P;CTDP1:NM_048368:exon1:c.A312T:p.P104P;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon1:c.A312T:p.P104P;ENSG00000060069:ENST00000075430:exon1:c.A312T:p.P104P;ENSG00000060069:ENST00000591598:exon1:c.A108T:p.P36P;	3.12313065217189E-4	0.062
18	77440260	G	A	18	79680260	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon1:c.G313A:p.G105R;CTDP1:NM_048368:exon1:c.G313A:p.G105R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon1:c.G313A:p.G105R;ENSG00000060069:ENST00000075430:exon1:c.G313A:p.G105R;ENSG00000060069:ENST00000591598:exon1:c.G109A:p.G37R;	0.38022435825325	0.528
18	77440260	G	C	18	79680260	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon1:c.G313C:p.G105R;CTDP1:NM_048368:exon1:c.G313C:p.G105R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon1:c.G313C:p.G105R;ENSG00000060069:ENST00000075430:exon1:c.G313C:p.G105R;ENSG00000060069:ENST00000591598:exon1:c.G109C:p.G37R;	0.640975151284407	0.704
18	77440260	G	T	18	79680260	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon1:c.G313T:p.G105X;CTDP1:NM_048368:exon1:c.G313T:p.G105X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon1:c.G313T:p.G105X;ENSG00000060069:ENST00000075430:exon1:c.G313T:p.G105X;ENSG00000060069:ENST00000591598:exon1:c.G109T:p.G37X;	0.607853233282676	0.682
18	77440261	G	A	18	79680261	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon1:c.G314A:p.G105E;CTDP1:NM_048368:exon1:c.G314A:p.G105E;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon1:c.G314A:p.G105E;ENSG00000060069:ENST00000075430:exon1:c.G314A:p.G105E;ENSG00000060069:ENST00000591598:exon1:c.G110A:p.G37E;	0.999244472661409	0.962
18	77440261	G	C	18	79680261	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon1:c.G314C:p.G105A;CTDP1:NM_048368:exon1:c.G314C:p.G105A;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon1:c.G314C:p.G105A;ENSG00000060069:ENST00000075430:exon1:c.G314C:p.G105A;ENSG00000060069:ENST00000591598:exon1:c.G110C:p.G37A;	0.999343579546834	0.974
18	77440261	G	T	18	79680261	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon1:c.G314T:p.G105V;CTDP1:NM_048368:exon1:c.G314T:p.G105V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon1:c.G314T:p.G105V;ENSG00000060069:ENST00000075430:exon1:c.G314T:p.G105V;ENSG00000060069:ENST00000591598:exon1:c.G110T:p.G37V;	0.998599517259768	0.962
18	77440262	G	A	18	79680262	y	y	splicing	CTDP1(NM_048368:exon1:c.314+1G>A;NM_004715:exon1:c.314+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon1:c.314+1G>A;ENST00000075430:exon1:c.314+1G>A;ENST00000591598:exon1:c.110+1G>A)	.	.	0.999969255906173	0.864
18	77440262	G	C	18	79680262	y	y	splicing	CTDP1(NM_048368:exon1:c.314+1G>C;NM_004715:exon1:c.314+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon1:c.314+1G>C;ENST00000075430:exon1:c.314+1G>C;ENST00000591598:exon1:c.110+1G>C)	.	.	0.999969712949741	0.842
18	77440262	G	T	18	79680262	y	y	splicing	CTDP1(NM_048368:exon1:c.314+1G>T;NM_004715:exon1:c.314+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon1:c.314+1G>T;ENST00000075430:exon1:c.314+1G>T;ENST00000591598:exon1:c.110+1G>T)	.	.	0.999969255906173	0.846
18	77440263	T	A	18	79680263	y	y	splicing	CTDP1(NM_048368:exon1:c.314+2T>A;NM_004715:exon1:c.314+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon1:c.314+2T>A;ENST00000075430:exon1:c.314+2T>A;ENST00000591598:exon1:c.110+2T>A)	.	.	0.999963044777912	0.794
18	77440263	T	C	18	79680263	y	y	splicing	CTDP1(NM_048368:exon1:c.314+2T>C;NM_004715:exon1:c.314+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon1:c.314+2T>C;ENST00000075430:exon1:c.314+2T>C;ENST00000591598:exon1:c.110+2T>C)	.	.	0.999625161479428	0.742
18	77440263	T	G	18	79680263	y	y	splicing	CTDP1(NM_048368:exon1:c.314+2T>G;NM_004715:exon1:c.314+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon1:c.314+2T>G;ENST00000075430:exon1:c.314+2T>G;ENST00000591598:exon1:c.110+2T>G)	.	.	0.999963044777912	0.75
18	77440264	G	A	18	79680264	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.88522680711788E-6	0.0
18	77440264	G	C	18	79680264	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.495549896565315	0.444
18	77440264	G	T	18	79680264	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.189349825630085	0.364
18	77440265	A	C	18	79680265	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.668498414607777	0.444
18	77440265	A	G	18	79680265	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.979547649425124	0.588
18	77440265	A	T	18	79680265	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.992373232060045	0.568
18	77440266	G	A	18	79680266	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999052216348436	0.898
18	77440266	G	C	18	79680266	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999887290102086	0.936
18	77440266	G	T	18	79680266	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.998252263303451	0.814
18	77440267	T	A	18	79680267	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.547967948747444	0.49
18	77440267	T	C	18	79680267	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.213083128114773	0.372
18	77440267	T	G	18	79680267	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0890045335887207	0.354
18	77440268	G	A	18	79680268	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.9867018368877E-4	0.004
18	77440268	G	C	18	79680268	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.38517818446919E-4	0.004
18	77440268	G	T	18	79680268	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.36078337039541E-4	0.01
18	77440269	T	A	18	79680269	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.59643074361267E-5	0.012
18	77440269	T	C	18	79680269	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.59643074361267E-5	0.012
18	77440269	T	G	18	79680269	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.94091264741399E-4	0.016
18	77440974	C	A	18	79680974	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	6.552751562108E-5	0.006
18	77440974	C	G	18	79680974	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	6.552751562108E-5	0.004
18	77440974	C	T	18	79680974	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.90028566392549E-5	0.004
18	77440975	T	A	18	79680975	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.90028566392549E-5	0.0
18	77440975	T	C	18	79680975	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.90028566392549E-5	0.002
18	77440975	T	G	18	79680975	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.90028566392549E-5	0.002
18	77440976	G	A	18	79680976	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	3.75289494538373E-5	0.002
18	77440976	G	C	18	79680976	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	3.75289494538373E-5	0.002
18	77440976	G	T	18	79680976	n	y	intronic	CTDP1	.	.	UTR5	ENSG00000060069	.	.	3.75289494538373E-5	0.002
18	77440977	G	A	18	79680977	n	y	intronic	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.93972165730067E-5	0.0
18	77440977	G	C	18	79680977	n	y	intronic	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.93972165730067E-5	0.0
18	77440977	G	T	18	79680977	n	y	intronic	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.93972165730067E-5	0.0
18	77440978	T	A	18	79680978	n	y	intronic	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.21211619968639E-5	0.0
18	77440978	T	C	18	79680978	n	y	intronic	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.21211619968639E-5	0.0
18	77440978	T	G	18	79680978	n	y	intronic	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.21211619968639E-5	0.0
18	77440979	A	C	18	79680979	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.35428655471156E-5	0.002
18	77440979	A	G	18	79680979	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.35428655471156E-5	0.002
18	77440979	A	T	18	79680979	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.35428655471156E-5	0.002
18	77440980	G	A	18	79680980	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.00176471611214E-5	0.006
18	77440980	G	C	18	79680980	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.58461283867531E-5	0.006
18	77440980	G	T	18	79680980	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.58461283867531E-5	0.006
18	77440981	T	A	18	79680981	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.68632724264029E-5	0.0
18	77440981	T	C	18	79680981	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.60947442822834E-5	0.0
18	77440981	T	G	18	79680981	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.60947442822834E-5	0.0
18	77440982	T	A	18	79680982	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.821824429032E-4	0.0
18	77440982	T	C	18	79680982	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.821824429032E-4	0.0
18	77440982	T	G	18	79680982	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.821824429032E-4	0.0
18	77440983	T	A	18	79680983	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.48293208623238E-5	0.0
18	77440983	T	C	18	79680983	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.77993525610891E-5	0.0
18	77440983	T	G	18	79680983	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.77993525610891E-5	0.0
18	77440984	T	A	18	79680984	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.13536747317882E-5	0.01
18	77440984	T	C	18	79680984	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.13536747317882E-5	0.012
18	77440984	T	G	18	79680984	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.13536747317882E-5	0.01
18	77441424	T	A	18	79681424	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.46186091248784E-5	0.036
18	77441424	T	C	18	79681424	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.56499665926734E-5	0.032
18	77441424	T	G	18	79681424	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.42653730959794E-5	0.034
18	77441425	T	A	18	79681425	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.91125889811943E-5	0.084
18	77441425	T	C	18	79681425	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.91125889811943E-5	0.006
18	77441425	T	G	18	79681425	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.91125889811943E-5	0.006
18	77441426	C	A	18	79681426	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.13503796622452E-5	0.0
18	77441426	C	G	18	79681426	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.13503796622452E-5	0.0
18	77441426	C	T	18	79681426	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.13503796622452E-5	0.0
18	77441427	C	A	18	79681427	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.88014054966508E-5	0.0
18	77441427	C	G	18	79681427	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.88014054966508E-5	0.0
18	77441427	C	T	18	79681427	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.88014054966508E-5	0.0
18	77441428	C	A	18	79681428	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.80065584082632E-4	0.058
18	77441428	C	G	18	79681428	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.80065584082632E-4	0.042
18	77441428	C	T	18	79681428	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.80065584082632E-4	0.138
18	77441429	T	A	18	79681429	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.89925739660516E-5	0.006
18	77441429	T	C	18	79681429	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.31929338280547E-5	0.004
18	77441429	T	G	18	79681429	n	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.31929338280547E-5	0.004
18	77441430	G	A	18	79681430	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.21619245134896E-5	0.0
18	77441430	G	C	18	79681430	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.88281479427096E-5	0.0
18	77441430	G	T	18	79681430	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.08858252050727E-5	0.002
18	77441431	G	A	18	79681431	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.22319008290309E-5	0.0
18	77441431	G	C	18	79681431	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.22319008290309E-5	0.0
18	77441431	G	T	18	79681431	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.22319008290309E-5	0.0
18	77441432	A	C	18	79681432	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.07620641825897E-5	0.0
18	77441432	A	G	18	79681432	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.07620641825897E-5	0.0
18	77441432	A	T	18	79681432	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.31929338280547E-5	0.0
18	77441433	C	A	18	79681433	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.07620641825897E-5	0.0
18	77441433	C	G	18	79681433	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.07620641825897E-5	0.0
18	77441433	C	T	18	79681433	n	y	UTR5	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.07620641825897E-5	0.0
18	77441434	A	C	18	79681434	n	y	UTR5	CTDP1	.	.	splicing	ENSG00000060069	.	.	4.14301101535901E-5	0.0
18	77441434	A	G	18	79681434	n	y	UTR5	CTDP1	.	.	splicing	ENSG00000060069	.	.	4.14301101535901E-5	0.0
18	77441434	A	T	18	79681434	n	y	UTR5	CTDP1	.	.	splicing	ENSG00000060069	.	.	4.47039489069415E-5	0.002
18	77441435	G	A	18	79681435	n	y	UTR5	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.29172098833992E-5	0.01
18	77441435	G	C	18	79681435	n	y	UTR5	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.29172098833992E-5	0.01
18	77441435	G	T	18	79681435	n	y	UTR5	CTDP1	.	.	splicing	ENSG00000060069	.	.	3.29172098833992E-5	0.01
18	77441436	A	C	18	79681436	n	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	1.32626888200385E-4	0.004
18	77441436	A	G	18	79681436	n	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	1.32626888200385E-4	0.004
18	77441436	A	T	18	79681436	n	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	2.41036740142694E-4	0.002
18	77441437	A	C	18	79681437	n	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	1.32626888200385E-4	0.008
18	77441437	A	G	18	79681437	n	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	1.32626888200385E-4	0.006
18	77441437	A	T	18	79681437	n	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	2.41036740142694E-4	0.002
18	77441515	C	A	18	79681515	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	3.88281479427096E-5	0.0
18	77441515	C	G	18	79681515	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	3.59846007660086E-5	0.0
18	77441515	C	T	18	79681515	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	3.88281479427096E-5	0.0
18	77441516	A	C	18	79681516	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.6857887130806E-5	0.004
18	77441516	A	G	18	79681516	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.6857887130806E-5	0.004
18	77441516	A	T	18	79681516	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.6857887130806E-5	0.004
18	77441517	G	A	18	79681517	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	9.4960356942388E-5	0.004
18	77441517	G	C	18	79681517	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.00072023146173E-5	0.004
18	77441517	G	T	18	79681517	y	y	UTR5	CTDP1	.	.	UTR5	ENSG00000060069	.	.	4.00072023146173E-5	0.004
18	77441518	G	A	18	79681518	y	y	splicing	CTDP1	.	.	splicing	ENSG00000060069	.	.	4.25174383013797E-5	0.008
18	77441518	G	C	18	79681518	y	y	splicing	CTDP1	.	.	splicing	ENSG00000060069	.	.	4.25174383013797E-5	0.004
18	77441518	G	T	18	79681518	y	y	splicing	CTDP1	.	.	splicing	ENSG00000060069	.	.	4.25174383013797E-5	0.004
18	77441519	T	A	18	79681519	y	y	splicing	CTDP1	.	.	splicing	ENSG00000060069	.	.	5.50552619103442E-5	0.0
18	77441519	T	C	18	79681519	y	y	splicing	CTDP1	.	.	splicing	ENSG00000060069	.	.	1.27145488438373E-5	0.0
18	77441519	T	G	18	79681519	y	y	splicing	CTDP1	.	.	splicing	ENSG00000060069	.	.	1.27145488438373E-5	0.0
18	77441520	G	A	18	79681520	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.45277156108894E-5	0.0
18	77441520	G	C	18	79681520	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.45277156108894E-5	0.0
18	77441520	G	T	18	79681520	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.45277156108894E-5	0.0
18	77441521	A	C	18	79681521	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.68219155180855E-5	0.002
18	77441521	A	G	18	79681521	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.68219155180855E-5	0.002
18	77441521	A	T	18	79681521	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.14301101535901E-5	0.002
18	77441522	G	A	18	79681522	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.07620641825897E-5	0.0
18	77441522	G	C	18	79681522	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.07620641825897E-5	0.0
18	77441522	G	T	18	79681522	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.07620641825897E-5	0.0
18	77441523	T	A	18	79681523	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.256915070725E-5	0.0
18	77441523	T	C	18	79681523	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.0180149904064E-5	0.002
18	77441523	T	G	18	79681523	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.0180149904064E-5	0.002
18	77441524	A	C	18	79681524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.78929785447708E-5	0.004
18	77441524	A	G	18	79681524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.78929785447708E-5	0.004
18	77441524	A	T	18	79681524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.78929785447708E-5	0.004
18	77441525	A	C	18	79681525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.55183766894313E-5	0.014
18	77441525	A	G	18	79681525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.55183766894313E-5	0.014
18	77441525	A	T	18	79681525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.38258961194127E-5	0.016
18	77455213	G	A	18	79695213	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.5076882750715E-5	0.0
18	77455213	G	C	18	79695213	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.66092557705717E-5	0.002
18	77455213	G	T	18	79695213	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.59458355175613E-5	0.02
18	77455214	T	A	18	79695214	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0032950434942214	0.206
18	77455214	T	C	18	79695214	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.34646795426681E-4	0.056
18	77455214	T	G	18	79695214	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0019737788199214	0.2
18	77455215	T	A	18	79695215	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0333996785295057	0.218
18	77455215	T	C	18	79695215	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.63505283932471E-5	0.0
18	77455215	T	G	18	79695215	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00548074489336186	0.226
18	77455216	T	A	18	79695216	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00191887736840443	0.12
18	77455216	T	C	18	79695216	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.62725545653982E-5	0.008
18	77455216	T	G	18	79695216	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0021910990545798	0.144
18	77455217	T	A	18	79695217	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0078653936398964	0.22
18	77455217	T	C	18	79695217	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.92602788290152E-5	0.0
18	77455217	T	G	18	79695217	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00151983721109111	0.192
18	77455218	T	A	18	79695218	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.53238386577923E-4	0.05
18	77455218	T	C	18	79695218	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.85255409482887E-5	0.0
18	77455218	T	G	18	79695218	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.58186592200185E-4	0.062
18	77455219	T	A	18	79695219	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.749263297353288	0.514
18	77455219	T	C	18	79695219	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00131416455558936	0.024
18	77455219	T	G	18	79695219	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.41486899195705	0.486
18	77455220	T	A	18	79695220	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.997134086919212	0.896
18	77455220	T	C	18	79695220	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.58018731897366E-4	0.022
18	77455220	T	G	18	79695220	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0429819878506934	0.274
18	77455221	G	A	18	79695221	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.47823066377362E-5	0.0
18	77455221	G	C	18	79695221	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.50863524791273E-5	0.0
18	77455221	G	T	18	79695221	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.64919398286655E-5	0.0
18	77455222	T	A	18	79695222	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.91676330285686E-4	0.078
18	77455222	T	C	18	79695222	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.77350613897187E-5	0.014
18	77455222	T	G	18	79695222	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.836974170236444	0.624
18	77455223	A	C	18	79695223	y	y	splicing	CTDP1(NM_048368:exon2:c.315-2A>C;NM_004715:exon2:c.315-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.315-2A>C;ENST00000075430:exon2:c.315-2A>C;ENST00000591598:exon2:c.111-2A>C)	.	.	0.999966514958823	0.944
18	77455223	A	G	18	79695223	y	y	splicing	CTDP1(NM_048368:exon2:c.315-2A>G;NM_004715:exon2:c.315-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.315-2A>G;ENST00000075430:exon2:c.315-2A>G;ENST00000591598:exon2:c.111-2A>G)	.	.	0.999966514958823	0.944
18	77455223	A	T	18	79695223	y	y	splicing	CTDP1(NM_048368:exon2:c.315-2A>T;NM_004715:exon2:c.315-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.315-2A>T;ENST00000075430:exon2:c.315-2A>T;ENST00000591598:exon2:c.111-2A>T)	.	.	0.999966203349492	0.944
18	77455224	G	A	18	79695224	y	y	splicing	CTDP1(NM_048368:exon2:c.315-1G>A;NM_004715:exon2:c.315-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.315-1G>A;ENST00000075430:exon2:c.315-1G>A;ENST00000591598:exon2:c.111-1G>A)	.	.	0.999915710762489	0.95
18	77455224	G	C	18	79695224	y	y	splicing	CTDP1(NM_048368:exon2:c.315-1G>C;NM_004715:exon2:c.315-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.315-1G>C;ENST00000075430:exon2:c.315-1G>C;ENST00000591598:exon2:c.111-1G>C)	.	.	0.999915710762489	0.954
18	77455224	G	T	18	79695224	y	y	splicing	CTDP1(NM_048368:exon2:c.315-1G>T;NM_004715:exon2:c.315-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.315-1G>T;ENST00000075430:exon2:c.315-1G>T;ENST00000591598:exon2:c.111-1G>T)	.	.	0.999915710762489	0.954
18	77455225	A	C	18	79695225	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon2:c.A315C:p.G105G;CTDP1:NM_048368:exon2:c.A315C:p.G105G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.A315C:p.G105G;ENSG00000060069:ENST00000075430:exon2:c.A315C:p.G105G;ENSG00000060069:ENST00000591598:exon2:c.A111C:p.G37G;	1.64002010031233E-5	0.006
18	77455225	A	G	18	79695225	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon2:c.A315G:p.G105G;CTDP1:NM_048368:exon2:c.A315G:p.G105G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.A315G:p.G105G;ENSG00000060069:ENST00000075430:exon2:c.A315G:p.G105G;ENSG00000060069:ENST00000591598:exon2:c.A111G:p.G37G;	1.19785226122903E-5	0.006
18	77455225	A	T	18	79695225	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon2:c.A315T:p.G105G;CTDP1:NM_048368:exon2:c.A315T:p.G105G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.A315T:p.G105G;ENSG00000060069:ENST00000075430:exon2:c.A315T:p.G105G;ENSG00000060069:ENST00000591598:exon2:c.A111T:p.G37G;	3.54665090795352E-5	0.018
18	77455226	G	A	18	79695226	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon2:c.G316A:p.A106T;CTDP1:NM_048368:exon2:c.G316A:p.A106T;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.G316A:p.A106T;ENSG00000060069:ENST00000075430:exon2:c.G316A:p.A106T;ENSG00000060069:ENST00000591598:exon2:c.G112A:p.A38T;	9.25254189942321E-5	0.028
18	77455226	G	C	18	79695226	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon2:c.G316C:p.A106P;CTDP1:NM_048368:exon2:c.G316C:p.A106P;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.G316C:p.A106P;ENSG00000060069:ENST00000075430:exon2:c.G316C:p.A106P;ENSG00000060069:ENST00000591598:exon2:c.G112C:p.A38P;	5.69575206021624E-4	0.044
18	77455226	G	T	18	79695226	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon2:c.G316T:p.A106S;CTDP1:NM_048368:exon2:c.G316T:p.A106S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.G316T:p.A106S;ENSG00000060069:ENST00000075430:exon2:c.G316T:p.A106S;ENSG00000060069:ENST00000591598:exon2:c.G112T:p.A38S;	3.1955504787733E-5	0.002
18	77455306	C	A	18	79695306	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon2:c.C396A:p.T132T;CTDP1:NM_001202504:exon2:c.C39A:p.T13T;CTDP1:NM_048368:exon2:c.C396A:p.T132T;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.C396A:p.T132T;ENSG00000060069:ENST00000075430:exon2:c.C396A:p.T132T;ENSG00000060069:ENST00000590635:exon3:c.C39A:p.T13T;ENSG00000060069:ENST00000591598:exon2:c.C192A:p.T64T;	7.96239464500623E-4	0.036
18	77455306	C	G	18	79695306	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon2:c.C396G:p.T132T;CTDP1:NM_001202504:exon2:c.C39G:p.T13T;CTDP1:NM_048368:exon2:c.C396G:p.T132T;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.C396G:p.T132T;ENSG00000060069:ENST00000075430:exon2:c.C396G:p.T132T;ENSG00000060069:ENST00000590635:exon3:c.C39G:p.T13T;ENSG00000060069:ENST00000591598:exon2:c.C192G:p.T64T;	7.90652064183997E-4	0.034
18	77455306	C	T	18	79695306	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon2:c.C396T:p.T132T;CTDP1:NM_001202504:exon2:c.C39T:p.T13T;CTDP1:NM_048368:exon2:c.C396T:p.T132T;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.C396T:p.T132T;ENSG00000060069:ENST00000075430:exon2:c.C396T:p.T132T;ENSG00000060069:ENST00000590635:exon3:c.C39T:p.T13T;ENSG00000060069:ENST00000591598:exon2:c.C192T:p.T64T;	0.0379226753075094	0.374
18	77455307	C	A	18	79695307	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon2:c.C397A:p.Q133K;CTDP1:NM_001202504:exon2:c.C40A:p.Q14K;CTDP1:NM_048368:exon2:c.C397A:p.Q133K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.C397A:p.Q133K;ENSG00000060069:ENST00000075430:exon2:c.C397A:p.Q133K;ENSG00000060069:ENST00000590635:exon3:c.C40A:p.Q14K;ENSG00000060069:ENST00000591598:exon2:c.C193A:p.Q65K;	0.833761680041448	0.716
18	77455307	C	G	18	79695307	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon2:c.C397G:p.Q133E;CTDP1:NM_001202504:exon2:c.C40G:p.Q14E;CTDP1:NM_048368:exon2:c.C397G:p.Q133E;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.C397G:p.Q133E;ENSG00000060069:ENST00000075430:exon2:c.C397G:p.Q133E;ENSG00000060069:ENST00000590635:exon3:c.C40G:p.Q14E;ENSG00000060069:ENST00000591598:exon2:c.C193G:p.Q65E;	0.954927173708541	0.912
18	77455307	C	T	18	79695307	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon2:c.C397T:p.Q133X;CTDP1:NM_001202504:exon2:c.C40T:p.Q14X;CTDP1:NM_048368:exon2:c.C397T:p.Q133X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon2:c.C397T:p.Q133X;ENSG00000060069:ENST00000075430:exon2:c.C397T:p.Q133X;ENSG00000060069:ENST00000590635:exon3:c.C40T:p.Q14X;ENSG00000060069:ENST00000591598:exon2:c.C193T:p.Q65X;	0.976987922120597	0.924
18	77455308	A	C	18	79695308	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon2:c.A398C:p.Q133P;CTDP1:NM_001202504:exon2:c.A41C:p.Q14P;CTDP1:NM_048368:exon2:c.A398C:p.Q133P;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.A398C:p.Q133P;ENSG00000060069:ENST00000075430:exon2:c.A398C:p.Q133P;ENSG00000060069:ENST00000590635:exon3:c.A41C:p.Q14P;ENSG00000060069:ENST00000591598:exon2:c.A194C:p.Q65P;	0.237015886088602	0.63
18	77455308	A	G	18	79695308	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon2:c.A398G:p.Q133R;CTDP1:NM_001202504:exon2:c.A41G:p.Q14R;CTDP1:NM_048368:exon2:c.A398G:p.Q133R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.A398G:p.Q133R;ENSG00000060069:ENST00000075430:exon2:c.A398G:p.Q133R;ENSG00000060069:ENST00000590635:exon3:c.A41G:p.Q14R;ENSG00000060069:ENST00000591598:exon2:c.A194G:p.Q65R;	0.251765918083502	0.378
18	77455308	A	T	18	79695308	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon2:c.A398T:p.Q133L;CTDP1:NM_001202504:exon2:c.A41T:p.Q14L;CTDP1:NM_048368:exon2:c.A398T:p.Q133L;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon2:c.A398T:p.Q133L;ENSG00000060069:ENST00000075430:exon2:c.A398T:p.Q133L;ENSG00000060069:ENST00000590635:exon3:c.A41T:p.Q14L;ENSG00000060069:ENST00000591598:exon2:c.A194T:p.Q65L;	0.642397049082182	0.696
18	77455309	G	A	18	79695309	y	y	splicing	CTDP1(NM_048368:exon2:c.398+1G>A;NM_004715:exon2:c.398+1G>A;NM_001202504:exon2:c.41+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.398+1G>A;ENST00000075430:exon2:c.398+1G>A;ENST00000591598:exon2:c.194+1G>A;ENST00000590635:exon3:c.41+1G>A)	.	.	0.999981760802075	0.94
18	77455309	G	C	18	79695309	y	y	splicing	CTDP1(NM_048368:exon2:c.398+1G>C;NM_004715:exon2:c.398+1G>C;NM_001202504:exon2:c.41+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.398+1G>C;ENST00000075430:exon2:c.398+1G>C;ENST00000591598:exon2:c.194+1G>C;ENST00000590635:exon3:c.41+1G>C)	.	.	0.999981760802075	0.938
18	77455309	G	T	18	79695309	y	y	splicing	CTDP1(NM_048368:exon2:c.398+1G>T;NM_004715:exon2:c.398+1G>T;NM_001202504:exon2:c.41+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.398+1G>T;ENST00000075430:exon2:c.398+1G>T;ENST00000591598:exon2:c.194+1G>T;ENST00000590635:exon3:c.41+1G>T)	.	.	0.999981760802075	0.94
18	77455310	T	A	18	79695310	y	y	splicing	CTDP1(NM_048368:exon2:c.398+2T>A;NM_004715:exon2:c.398+2T>A;NM_001202504:exon2:c.41+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.398+2T>A;ENST00000075430:exon2:c.398+2T>A;ENST00000591598:exon2:c.194+2T>A;ENST00000590635:exon3:c.41+2T>A)	.	.	0.999989917668626	0.926
18	77455310	T	C	18	79695310	y	y	splicing	CTDP1(NM_048368:exon2:c.398+2T>C;NM_004715:exon2:c.398+2T>C;NM_001202504:exon2:c.41+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.398+2T>C;ENST00000075430:exon2:c.398+2T>C;ENST00000591598:exon2:c.194+2T>C;ENST00000590635:exon3:c.41+2T>C)	.	.	0.992323021482646	0.626
18	77455310	T	G	18	79695310	y	y	splicing	CTDP1(NM_048368:exon2:c.398+2T>G;NM_004715:exon2:c.398+2T>G;NM_001202504:exon2:c.41+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon2:c.398+2T>G;ENST00000075430:exon2:c.398+2T>G;ENST00000591598:exon2:c.194+2T>G;ENST00000590635:exon3:c.41+2T>G)	.	.	0.999989917668626	0.926
18	77455311	A	C	18	79695311	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.997914378956076	0.83
18	77455311	A	G	18	79695311	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.03580252573299E-4	0.024
18	77455311	A	T	18	79695311	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.996745161822953	0.78
18	77455312	A	C	18	79695312	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.673528759421661	0.49
18	77455312	A	G	18	79695312	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.986494624088578	0.746
18	77455312	A	T	18	79695312	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.914935970746389	0.662
18	77455313	G	A	18	79695313	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999985653196045	0.978
18	77455313	G	C	18	79695313	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999975734791677	0.972
18	77455313	G	T	18	79695313	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999974344966402	0.964
18	77455314	T	A	18	79695314	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.725799994934929	0.514
18	77455314	T	C	18	79695314	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.862143684090882	0.662
18	77455314	T	G	18	79695314	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.692167933144773	0.618
18	77455315	A	C	18	79695315	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.42513842174336E-5	0.0
18	77455315	A	G	18	79695315	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.42513842174336E-5	0.0
18	77455315	A	T	18	79695315	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.14906484440489E-5	0.034
18	77455316	T	A	18	79695316	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.68752715644085E-4	0.0
18	77455316	T	C	18	79695316	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.93213870485388E-5	0.0
18	77455316	T	G	18	79695316	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.63767104028786E-4	0.0
18	77455965	T	A	18	79695965	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00192425740997883	0.116
18	77455965	T	C	18	79695965	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.01643213117286E-4	0.008
18	77455965	T	G	18	79695965	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00339102404246222	0.132
18	77455966	T	A	18	79695966	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999921760054374	0.928
18	77455966	T	C	18	79695966	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.69750588912605E-4	0.058
18	77455966	T	G	18	79695966	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.218236690221858	0.384
18	77455967	G	A	18	79695967	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.68049634087208E-5	0.046
18	77455967	G	C	18	79695967	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.11583435351007E-5	0.032
18	77455967	G	T	18	79695967	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.02828479701963E-5	0.03
18	77455968	C	A	18	79695968	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.52609042873717E-4	0.008
18	77455968	C	G	18	79695968	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.92390464229155E-4	0.036
18	77455968	C	T	18	79695968	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.55955572115086E-5	0.0
18	77455969	A	C	18	79695969	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.77821012479563E-5	0.01
18	77455969	A	G	18	79695969	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.28209394548904E-6	0.0
18	77455969	A	T	18	79695969	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.57281557324797E-5	0.0
18	77455970	C	A	18	79695970	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.62761131721333E-4	0.068
18	77455970	C	G	18	79695970	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.951175230879932	0.916
18	77455970	C	T	18	79695970	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.28854505554564E-5	0.0
18	77455971	T	A	18	79695971	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0040524418645769	0.104
18	77455971	T	C	18	79695971	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.38812115266541E-5	0.0
18	77455971	T	G	18	79695971	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00446137970654196	0.17
18	77455972	T	A	18	79695972	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999608903131855	0.856
18	77455972	T	C	18	79695972	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.04484415730346E-4	0.008
18	77455972	T	G	18	79695972	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.33628398220026	0.376
18	77455973	G	A	18	79695973	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.33095596938146E-5	0.0
18	77455973	G	C	18	79695973	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.76608791798915E-5	0.0
18	77455973	G	T	18	79695973	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.20427805990943E-5	0.0
18	77455974	C	A	18	79695974	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.489994581279507	0.542
18	77455974	C	G	18	79695974	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999352131986081	0.86
18	77455974	C	T	18	79695974	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.94167807218105E-4	0.014
18	77455975	A	C	18	79695975	y	y	splicing	CTDP1(NM_048368:exon3:c.399-2A>C;NM_004715:exon3:c.399-2A>C;NM_001202504:exon3:c.42-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.399-2A>C;ENST00000075430:exon3:c.399-2A>C;ENST00000591598:exon3:c.195-2A>C;ENST00000590635:exon4:c.42-2A>C)	.	.	0.999814500365738	0.746
18	77455975	A	G	18	79695975	y	y	splicing	CTDP1(NM_048368:exon3:c.399-2A>G;NM_004715:exon3:c.399-2A>G;NM_001202504:exon3:c.42-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.399-2A>G;ENST00000075430:exon3:c.399-2A>G;ENST00000591598:exon3:c.195-2A>G;ENST00000590635:exon4:c.42-2A>G)	.	.	0.999814500365738	0.746
18	77455975	A	T	18	79695975	y	y	splicing	CTDP1(NM_048368:exon3:c.399-2A>T;NM_004715:exon3:c.399-2A>T;NM_001202504:exon3:c.42-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.399-2A>T;ENST00000075430:exon3:c.399-2A>T;ENST00000591598:exon3:c.195-2A>T;ENST00000590635:exon4:c.42-2A>T)	.	.	0.999848001693951	0.746
18	77455976	G	A	18	79695976	y	y	splicing	CTDP1(NM_048368:exon3:c.399-1G>A;NM_004715:exon3:c.399-1G>A;NM_001202504:exon3:c.42-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.399-1G>A;ENST00000075430:exon3:c.399-1G>A;ENST00000591598:exon3:c.195-1G>A;ENST00000590635:exon4:c.42-1G>A)	.	.	0.999955485601963	0.902
18	77455976	G	C	18	79695976	y	y	splicing	CTDP1(NM_048368:exon3:c.399-1G>C;NM_004715:exon3:c.399-1G>C;NM_001202504:exon3:c.42-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.399-1G>C;ENST00000075430:exon3:c.399-1G>C;ENST00000591598:exon3:c.195-1G>C;ENST00000590635:exon4:c.42-1G>C)	.	.	0.999956785519844	0.852
18	77455976	G	T	18	79695976	y	y	splicing	CTDP1(NM_048368:exon3:c.399-1G>T;NM_004715:exon3:c.399-1G>T;NM_001202504:exon3:c.42-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.399-1G>T;ENST00000075430:exon3:c.399-1G>T;ENST00000591598:exon3:c.195-1G>T;ENST00000590635:exon4:c.42-1G>T)	.	.	0.999955485601963	0.896
18	77455977	G	A	18	79695977	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon3:c.G399A:p.Q133Q;CTDP1:NM_001202504:exon3:c.G42A:p.Q14Q;CTDP1:NM_048368:exon3:c.G399A:p.Q133Q;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.G399A:p.Q133Q;ENSG00000060069:ENST00000075430:exon3:c.G399A:p.Q133Q;ENSG00000060069:ENST00000590635:exon4:c.G42A:p.Q14Q;ENSG00000060069:ENST00000591598:exon3:c.G195A:p.Q65Q;	0.00228410907242083	0.172
18	77455977	G	C	18	79695977	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.G399C:p.Q133H;CTDP1:NM_001202504:exon3:c.G42C:p.Q14H;CTDP1:NM_048368:exon3:c.G399C:p.Q133H;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.G399C:p.Q133H;ENSG00000060069:ENST00000075430:exon3:c.G399C:p.Q133H;ENSG00000060069:ENST00000590635:exon4:c.G42C:p.Q14H;ENSG00000060069:ENST00000591598:exon3:c.G195C:p.Q65H;	0.156598343636635	0.464
18	77455977	G	T	18	79695977	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.G399T:p.Q133H;CTDP1:NM_001202504:exon3:c.G42T:p.Q14H;CTDP1:NM_048368:exon3:c.G399T:p.Q133H;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.G399T:p.Q133H;ENSG00000060069:ENST00000075430:exon3:c.G399T:p.Q133H;ENSG00000060069:ENST00000590635:exon4:c.G42T:p.Q14H;ENSG00000060069:ENST00000591598:exon3:c.G195T:p.Q65H;	0.413616359836879	0.624
18	77455978	T	A	18	79695978	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.T400A:p.L134M;CTDP1:NM_001202504:exon3:c.T43A:p.L15M;CTDP1:NM_048368:exon3:c.T400A:p.L134M;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.T400A:p.L134M;ENSG00000060069:ENST00000075430:exon3:c.T400A:p.L134M;ENSG00000060069:ENST00000590635:exon4:c.T43A:p.L15M;ENSG00000060069:ENST00000591598:exon3:c.T196A:p.L66M;	7.48299703946353E-4	0.05
18	77455978	T	C	18	79695978	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon3:c.T400C:p.L134L;CTDP1:NM_001202504:exon3:c.T43C:p.L15L;CTDP1:NM_048368:exon3:c.T400C:p.L134L;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.T400C:p.L134L;ENSG00000060069:ENST00000075430:exon3:c.T400C:p.L134L;ENSG00000060069:ENST00000590635:exon4:c.T43C:p.L15L;ENSG00000060069:ENST00000591598:exon3:c.T196C:p.L66L;	7.20201294068136E-5	0.004
18	77455978	T	G	18	79695978	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.T400G:p.L134V;CTDP1:NM_001202504:exon3:c.T43G:p.L15V;CTDP1:NM_048368:exon3:c.T400G:p.L134V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.T400G:p.L134V;ENSG00000060069:ENST00000075430:exon3:c.T400G:p.L134V;ENSG00000060069:ENST00000590635:exon4:c.T43G:p.L15V;ENSG00000060069:ENST00000591598:exon3:c.T196G:p.L66V;	0.00108818173590215	0.052
18	77456068	G	A	18	79696068	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.G490A:p.E164K;CTDP1:NM_001202504:exon3:c.G133A:p.E45K;CTDP1:NM_048368:exon3:c.G490A:p.E164K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.G490A:p.E164K;ENSG00000060069:ENST00000075430:exon3:c.G490A:p.E164K;ENSG00000060069:ENST00000590635:exon4:c.G133A:p.E45K;ENSG00000060069:ENST00000591598:exon3:c.G286A:p.E96K;	0.769722332228291	0.804
18	77456068	G	C	18	79696068	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.G490C:p.E164Q;CTDP1:NM_001202504:exon3:c.G133C:p.E45Q;CTDP1:NM_048368:exon3:c.G490C:p.E164Q;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.G490C:p.E164Q;ENSG00000060069:ENST00000075430:exon3:c.G490C:p.E164Q;ENSG00000060069:ENST00000590635:exon4:c.G133C:p.E45Q;ENSG00000060069:ENST00000591598:exon3:c.G286C:p.E96Q;	0.760282191360913	0.752
18	77456068	G	T	18	79696068	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon3:c.G490T:p.E164X;CTDP1:NM_001202504:exon3:c.G133T:p.E45X;CTDP1:NM_048368:exon3:c.G490T:p.E164X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon3:c.G490T:p.E164X;ENSG00000060069:ENST00000075430:exon3:c.G490T:p.E164X;ENSG00000060069:ENST00000590635:exon4:c.G133T:p.E45X;ENSG00000060069:ENST00000591598:exon3:c.G286T:p.E96X;	0.857573513884142	0.846
18	77456069	A	C	18	79696069	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.A491C:p.E164A;CTDP1:NM_001202504:exon3:c.A134C:p.E45A;CTDP1:NM_048368:exon3:c.A491C:p.E164A;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.A491C:p.E164A;ENSG00000060069:ENST00000075430:exon3:c.A491C:p.E164A;ENSG00000060069:ENST00000590635:exon4:c.A134C:p.E45A;ENSG00000060069:ENST00000591598:exon3:c.A287C:p.E96A;	0.988077639084588	0.928
18	77456069	A	G	18	79696069	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.A491G:p.E164G;CTDP1:NM_001202504:exon3:c.A134G:p.E45G;CTDP1:NM_048368:exon3:c.A491G:p.E164G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.A491G:p.E164G;ENSG00000060069:ENST00000075430:exon3:c.A491G:p.E164G;ENSG00000060069:ENST00000590635:exon4:c.A134G:p.E45G;ENSG00000060069:ENST00000591598:exon3:c.A287G:p.E96G;	0.9988716035499	0.942
18	77456069	A	T	18	79696069	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.A491T:p.E164V;CTDP1:NM_001202504:exon3:c.A134T:p.E45V;CTDP1:NM_048368:exon3:c.A491T:p.E164V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.A491T:p.E164V;ENSG00000060069:ENST00000075430:exon3:c.A491T:p.E164V;ENSG00000060069:ENST00000590635:exon4:c.A134T:p.E45V;ENSG00000060069:ENST00000591598:exon3:c.A287T:p.E96V;	0.994972150274928	0.948
18	77456070	G	A	18	79696070	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon3:c.G492A:p.E164E;CTDP1:NM_001202504:exon3:c.G135A:p.E45E;CTDP1:NM_048368:exon3:c.G492A:p.E164E;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.G492A:p.E164E;ENSG00000060069:ENST00000075430:exon3:c.G492A:p.E164E;ENSG00000060069:ENST00000590635:exon4:c.G135A:p.E45E;ENSG00000060069:ENST00000591598:exon3:c.G288A:p.E96E;	0.999190690863589	0.912
18	77456070	G	C	18	79696070	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.G492C:p.E164D;CTDP1:NM_001202504:exon3:c.G135C:p.E45D;CTDP1:NM_048368:exon3:c.G492C:p.E164D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.G492C:p.E164D;ENSG00000060069:ENST00000075430:exon3:c.G492C:p.E164D;ENSG00000060069:ENST00000590635:exon4:c.G135C:p.E45D;ENSG00000060069:ENST00000591598:exon3:c.G288C:p.E96D;	0.999992445986842	0.952
18	77456070	G	T	18	79696070	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon3:c.G492T:p.E164D;CTDP1:NM_001202504:exon3:c.G135T:p.E45D;CTDP1:NM_048368:exon3:c.G492T:p.E164D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon3:c.G492T:p.E164D;ENSG00000060069:ENST00000075430:exon3:c.G492T:p.E164D;ENSG00000060069:ENST00000590635:exon4:c.G135T:p.E45D;ENSG00000060069:ENST00000591598:exon3:c.G288T:p.E96D;	0.999943293196166	0.986
18	77456071	G	A	18	79696071	y	y	splicing	CTDP1(NM_048368:exon3:c.492+1G>A;NM_004715:exon3:c.492+1G>A;NM_001202504:exon3:c.135+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.492+1G>A;ENST00000075430:exon3:c.492+1G>A;ENST00000591598:exon3:c.288+1G>A;ENST00000590635:exon4:c.135+1G>A)	.	.	0.999981760802075	0.938
18	77456071	G	C	18	79696071	y	y	splicing	CTDP1(NM_048368:exon3:c.492+1G>C;NM_004715:exon3:c.492+1G>C;NM_001202504:exon3:c.135+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.492+1G>C;ENST00000075430:exon3:c.492+1G>C;ENST00000591598:exon3:c.288+1G>C;ENST00000590635:exon4:c.135+1G>C)	.	.	0.999981760802075	0.938
18	77456071	G	T	18	79696071	y	y	splicing	CTDP1(NM_048368:exon3:c.492+1G>T;NM_004715:exon3:c.492+1G>T;NM_001202504:exon3:c.135+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.492+1G>T;ENST00000075430:exon3:c.492+1G>T;ENST00000591598:exon3:c.288+1G>T;ENST00000590635:exon4:c.135+1G>T)	.	.	0.999981760802075	0.938
18	77456072	T	A	18	79696072	y	y	splicing	CTDP1(NM_048368:exon3:c.492+2T>A;NM_004715:exon3:c.492+2T>A;NM_001202504:exon3:c.135+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.492+2T>A;ENST00000075430:exon3:c.492+2T>A;ENST00000591598:exon3:c.288+2T>A;ENST00000590635:exon4:c.135+2T>A)	.	.	0.999955107838025	0.926
18	77456072	T	C	18	79696072	y	y	splicing	CTDP1(NM_048368:exon3:c.492+2T>C;NM_004715:exon3:c.492+2T>C;NM_001202504:exon3:c.135+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.492+2T>C;ENST00000075430:exon3:c.492+2T>C;ENST00000591598:exon3:c.288+2T>C;ENST00000590635:exon4:c.135+2T>C)	.	.	0.999795251502067	0.902
18	77456072	T	G	18	79696072	y	y	splicing	CTDP1(NM_048368:exon3:c.492+2T>G;NM_004715:exon3:c.492+2T>G;NM_001202504:exon3:c.135+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon3:c.492+2T>G;ENST00000075430:exon3:c.492+2T>G;ENST00000591598:exon3:c.288+2T>G;ENST00000590635:exon4:c.135+2T>G)	.	.	0.999955521744805	0.93
18	77456073	G	A	18	79696073	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.52850109809084E-5	0.0
18	77456073	G	C	18	79696073	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.171976665351835	0.346
18	77456073	G	T	18	79696073	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.322683324474387	0.288
18	77456074	A	C	18	79696074	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.174884213633145	0.366
18	77456074	A	G	18	79696074	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.527197621715179	0.49
18	77456074	A	T	18	79696074	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.886290531706883	0.48
18	77456075	G	A	18	79696075	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.994963558172901	0.908
18	77456075	G	C	18	79696075	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.997705073189833	0.866
18	77456075	G	T	18	79696075	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.996571695248913	0.91
18	77456076	C	A	18	79696076	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.89997913302367E-4	0.006
18	77456076	C	G	18	79696076	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.15372137915977E-5	0.022
18	77456076	C	T	18	79696076	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.76201899951081E-5	0.0
18	77456077	C	A	18	79696077	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.09579474250486E-6	0.0
18	77456077	C	G	18	79696077	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.00720376625508E-5	0.0
18	77456077	C	T	18	79696077	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.49692741721636E-5	0.0
18	77456078	G	A	18	79696078	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.3427982531725E-5	0.0
18	77456078	G	C	18	79696078	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.3427982531725E-5	0.0
18	77456078	G	T	18	79696078	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.77993525610891E-5	0.0
18	77457848	T	A	18	79697848	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00108261585408665	0.128
18	77457848	T	C	18	79697848	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.44736845766905E-4	0.0
18	77457848	T	G	18	79697848	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.70002325865955E-4	0.1
18	77457849	T	A	18	79697849	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.408830764052077	0.488
18	77457849	T	C	18	79697849	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.05147284078519E-4	0.104
18	77457849	T	G	18	79697849	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.14447666945239	0.462
18	77457850	T	A	18	79697850	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.028222126456331	0.282
18	77457850	T	C	18	79697850	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.40133140279723E-4	0.026
18	77457850	T	G	18	79697850	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0243527699318735	0.302
18	77457851	T	A	18	79697851	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00206372169948217	0.104
18	77457851	T	C	18	79697851	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.83904087558895E-5	0.0
18	77457851	T	G	18	79697851	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0024013448338802	0.12
18	77457852	A	C	18	79697852	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.6251334193021E-5	0.004
18	77457852	A	G	18	79697852	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.3071614166916E-5	0.016
18	77457852	A	T	18	79697852	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.00164682472189E-5	0.0
18	77457853	A	C	18	79697853	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.86904191721957E-5	0.004
18	77457853	A	G	18	79697853	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.998781502487874	0.98
18	77457853	A	T	18	79697853	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.52599312567818E-5	0.0
18	77457854	T	A	18	79697854	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00326602484055562	0.112
18	77457854	T	C	18	79697854	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.19579408257471E-5	0.0
18	77457854	T	G	18	79697854	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.998891863875039	0.986
18	77457855	T	A	18	79697855	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999597406273268	0.94
18	77457855	T	C	18	79697855	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.09618884769467E-4	0.048
18	77457855	T	G	18	79697855	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.738089084951666	0.392
18	77457856	G	A	18	79697856	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.27892544610758E-5	0.002
18	77457856	G	C	18	79697856	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.48064695835003E-6	0.004
18	77457856	G	T	18	79697856	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.06341561599038E-6	0.0
18	77457857	T	A	18	79697857	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.81225960339255E-4	0.152
18	77457857	T	C	18	79697857	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.36618928314506E-5	0.004
18	77457857	T	G	18	79697857	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.855326449944141	0.678
18	77457858	A	C	18	79697858	y	y	splicing	CTDP1(NM_048368:exon4:c.493-2A>C;NM_004715:exon4:c.493-2A>C;NM_001202504:exon4:c.136-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.493-2A>C;ENST00000075430:exon4:c.493-2A>C;ENST00000591598:exon4:c.289-2A>C;ENST00000590635:exon5:c.136-2A>C)	.	.	0.999972155025474	0.868
18	77457858	A	G	18	79697858	y	y	splicing	CTDP1(NM_048368:exon4:c.493-2A>G;NM_004715:exon4:c.493-2A>G;NM_001202504:exon4:c.136-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.493-2A>G;ENST00000075430:exon4:c.493-2A>G;ENST00000591598:exon4:c.289-2A>G;ENST00000590635:exon5:c.136-2A>G)	.	.	0.999972155025474	0.866
18	77457858	A	T	18	79697858	y	y	splicing	CTDP1(NM_048368:exon4:c.493-2A>T;NM_004715:exon4:c.493-2A>T;NM_001202504:exon4:c.136-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.493-2A>T;ENST00000075430:exon4:c.493-2A>T;ENST00000591598:exon4:c.289-2A>T;ENST00000590635:exon5:c.136-2A>T)	.	.	0.999972871252391	0.882
18	77457859	G	A	18	79697859	y	y	splicing	CTDP1(NM_048368:exon4:c.493-1G>A;NM_004715:exon4:c.493-1G>A;NM_001202504:exon4:c.136-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.493-1G>A;ENST00000075430:exon4:c.493-1G>A;ENST00000591598:exon4:c.289-1G>A;ENST00000590635:exon5:c.136-1G>A)	.	.	0.999925439713521	0.906
18	77457859	G	C	18	79697859	y	y	splicing	CTDP1(NM_048368:exon4:c.493-1G>C;NM_004715:exon4:c.493-1G>C;NM_001202504:exon4:c.136-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.493-1G>C;ENST00000075430:exon4:c.493-1G>C;ENST00000591598:exon4:c.289-1G>C;ENST00000590635:exon5:c.136-1G>C)	.	.	0.999955485601963	0.904
18	77457859	G	T	18	79697859	y	y	splicing	CTDP1(NM_048368:exon4:c.493-1G>T;NM_004715:exon4:c.493-1G>T;NM_001202504:exon4:c.136-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.493-1G>T;ENST00000075430:exon4:c.493-1G>T;ENST00000591598:exon4:c.289-1G>T;ENST00000590635:exon5:c.136-1G>T)	.	.	0.999955485601963	0.908
18	77457860	C	A	18	79697860	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.C493A:p.Q165K;CTDP1:NM_001202504:exon4:c.C136A:p.Q46K;CTDP1:NM_048368:exon4:c.C493A:p.Q165K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.C493A:p.Q165K;ENSG00000060069:ENST00000075430:exon4:c.C493A:p.Q165K;ENSG00000060069:ENST00000590635:exon5:c.C136A:p.Q46K;ENSG00000060069:ENST00000591598:exon4:c.C289A:p.Q97K;	5.21810227619005E-4	0.02
18	77457860	C	G	18	79697860	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.C493G:p.Q165E;CTDP1:NM_001202504:exon4:c.C136G:p.Q46E;CTDP1:NM_048368:exon4:c.C493G:p.Q165E;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.C493G:p.Q165E;ENSG00000060069:ENST00000075430:exon4:c.C493G:p.Q165E;ENSG00000060069:ENST00000590635:exon5:c.C136G:p.Q46E;ENSG00000060069:ENST00000591598:exon4:c.C289G:p.Q97E;	0.00121024820685639	0.072
18	77457860	C	T	18	79697860	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon4:c.C493T:p.Q165X;CTDP1:NM_001202504:exon4:c.C136T:p.Q46X;CTDP1:NM_048368:exon4:c.C493T:p.Q165X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon4:c.C493T:p.Q165X;ENSG00000060069:ENST00000075430:exon4:c.C493T:p.Q165X;ENSG00000060069:ENST00000590635:exon5:c.C136T:p.Q46X;ENSG00000060069:ENST00000591598:exon4:c.C289T:p.Q97X;	0.971830007631955	0.878
18	77457861	A	C	18	79697861	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A494C:p.Q165P;CTDP1:NM_001202504:exon4:c.A137C:p.Q46P;CTDP1:NM_048368:exon4:c.A494C:p.Q165P;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A494C:p.Q165P;ENSG00000060069:ENST00000075430:exon4:c.A494C:p.Q165P;ENSG00000060069:ENST00000590635:exon5:c.A137C:p.Q46P;ENSG00000060069:ENST00000591598:exon4:c.A290C:p.Q97P;	0.0127580776051543	0.192
18	77457861	A	G	18	79697861	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A494G:p.Q165R;CTDP1:NM_001202504:exon4:c.A137G:p.Q46R;CTDP1:NM_048368:exon4:c.A494G:p.Q165R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A494G:p.Q165R;ENSG00000060069:ENST00000075430:exon4:c.A494G:p.Q165R;ENSG00000060069:ENST00000590635:exon5:c.A137G:p.Q46R;ENSG00000060069:ENST00000591598:exon4:c.A290G:p.Q97R;	0.00115006014519875	0.014
18	77457861	A	T	18	79697861	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A494T:p.Q165L;CTDP1:NM_001202504:exon4:c.A137T:p.Q46L;CTDP1:NM_048368:exon4:c.A494T:p.Q165L;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A494T:p.Q165L;ENSG00000060069:ENST00000075430:exon4:c.A494T:p.Q165L;ENSG00000060069:ENST00000590635:exon5:c.A137T:p.Q46L;ENSG00000060069:ENST00000591598:exon4:c.A290T:p.Q97L;	0.00865333503669078	0.082
18	77457986	A	C	18	79697986	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A619C:p.K207Q;CTDP1:NM_001202504:exon4:c.A262C:p.K88Q;CTDP1:NM_048368:exon4:c.A619C:p.K207Q;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A619C:p.K207Q;ENSG00000060069:ENST00000075430:exon4:c.A619C:p.K207Q;ENSG00000060069:ENST00000591598:exon4:c.A415C:p.K139Q;	0.670241587856056	0.786
18	77457986	A	G	18	79697986	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A619G:p.K207E;CTDP1:NM_001202504:exon4:c.A262G:p.K88E;CTDP1:NM_048368:exon4:c.A619G:p.K207E;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A619G:p.K207E;ENSG00000060069:ENST00000075430:exon4:c.A619G:p.K207E;ENSG00000060069:ENST00000591598:exon4:c.A415G:p.K139E;	0.110152234227035	0.44
18	77457986	A	T	18	79697986	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon4:c.A619T:p.K207X;CTDP1:NM_001202504:exon4:c.A262T:p.K88X;CTDP1:NM_048368:exon4:c.A619T:p.K207X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon4:c.A619T:p.K207X;ENSG00000060069:ENST00000075430:exon4:c.A619T:p.K207X;ENSG00000060069:ENST00000591598:exon4:c.A415T:p.K139X;	0.95565985074471	0.73
18	77457987	A	C	18	79697987	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A620C:p.K207T;CTDP1:NM_001202504:exon4:c.A263C:p.K88T;CTDP1:NM_048368:exon4:c.A620C:p.K207T;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A620C:p.K207T;ENSG00000060069:ENST00000075430:exon4:c.A620C:p.K207T;ENSG00000060069:ENST00000591598:exon4:c.A416C:p.K139T;	0.62073501372224	0.578
18	77457987	A	G	18	79697987	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A620G:p.K207R;CTDP1:NM_001202504:exon4:c.A263G:p.K88R;CTDP1:NM_048368:exon4:c.A620G:p.K207R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A620G:p.K207R;ENSG00000060069:ENST00000075430:exon4:c.A620G:p.K207R;ENSG00000060069:ENST00000591598:exon4:c.A416G:p.K139R;	0.771455424975676	0.468
18	77457987	A	T	18	79697987	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A620T:p.K207I;CTDP1:NM_001202504:exon4:c.A263T:p.K88I;CTDP1:NM_048368:exon4:c.A620T:p.K207I;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A620T:p.K207I;ENSG00000060069:ENST00000075430:exon4:c.A620T:p.K207I;ENSG00000060069:ENST00000591598:exon4:c.A416T:p.K139I;	0.915886500623548	0.596
18	77457988	A	C	18	79697988	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A621C:p.K207N;CTDP1:NM_001202504:exon4:c.A264C:p.K88N;CTDP1:NM_048368:exon4:c.A621C:p.K207N;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A621C:p.K207N;ENSG00000060069:ENST00000075430:exon4:c.A621C:p.K207N;ENSG00000060069:ENST00000591598:exon4:c.A417C:p.K139N;	4.71395548134347E-5	0.182
18	77457988	A	G	18	79697988	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon4:c.A621G:p.K207K;CTDP1:NM_001202504:exon4:c.A264G:p.K88K;CTDP1:NM_048368:exon4:c.A621G:p.K207K;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A621G:p.K207K;ENSG00000060069:ENST00000075430:exon4:c.A621G:p.K207K;ENSG00000060069:ENST00000591598:exon4:c.A417G:p.K139K;	1.83806639212285E-4	0.094
18	77457988	A	T	18	79697988	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon4:c.A621T:p.K207N;CTDP1:NM_001202504:exon4:c.A264T:p.K88N;CTDP1:NM_048368:exon4:c.A621T:p.K207N;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon4:c.A621T:p.K207N;ENSG00000060069:ENST00000075430:exon4:c.A621T:p.K207N;ENSG00000060069:ENST00000591598:exon4:c.A417T:p.K139N;	2.51226392966242E-4	0.128
18	77457989	G	A	18	79697989	y	y	splicing	CTDP1(NM_048368:exon4:c.621+1G>A;NM_004715:exon4:c.621+1G>A;NM_001202504:exon4:c.264+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.621+1G>A;ENST00000075430:exon4:c.621+1G>A;ENST00000591598:exon4:c.417+1G>A)	.	.	0.999981760802075	0.944
18	77457989	G	C	18	79697989	y	y	splicing	CTDP1(NM_048368:exon4:c.621+1G>C;NM_004715:exon4:c.621+1G>C;NM_001202504:exon4:c.264+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.621+1G>C;ENST00000075430:exon4:c.621+1G>C;ENST00000591598:exon4:c.417+1G>C)	.	.	0.999981760802075	0.944
18	77457989	G	T	18	79697989	y	y	splicing	CTDP1(NM_048368:exon4:c.621+1G>T;NM_004715:exon4:c.621+1G>T;NM_001202504:exon4:c.264+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.621+1G>T;ENST00000075430:exon4:c.621+1G>T;ENST00000591598:exon4:c.417+1G>T)	.	.	0.999981760802075	0.944
18	77457990	T	A	18	79697990	y	y	splicing	CTDP1(NM_048368:exon4:c.621+2T>A;NM_004715:exon4:c.621+2T>A;NM_001202504:exon4:c.264+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.621+2T>A;ENST00000075430:exon4:c.621+2T>A;ENST00000591598:exon4:c.417+2T>A)	.	.	0.999989917668626	0.926
18	77457990	T	C	18	79697990	y	y	splicing	CTDP1(NM_048368:exon4:c.621+2T>C;NM_004715:exon4:c.621+2T>C;NM_001202504:exon4:c.264+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.621+2T>C;ENST00000075430:exon4:c.621+2T>C;ENST00000591598:exon4:c.417+2T>C)	.	.	0.999939711763648	0.862
18	77457990	T	G	18	79697990	y	y	splicing	CTDP1(NM_048368:exon4:c.621+2T>G;NM_004715:exon4:c.621+2T>G;NM_001202504:exon4:c.264+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon4:c.621+2T>G;ENST00000075430:exon4:c.621+2T>G;ENST00000591598:exon4:c.417+2T>G)	.	.	0.999989917668626	0.926
18	77457991	G	A	18	79697991	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.09126782912437E-5	0.006
18	77457991	G	C	18	79697991	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.971465669949073	0.5
18	77457991	G	T	18	79697991	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.546167911367836	0.396
18	77457992	A	C	18	79697992	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.322714715959251	0.446
18	77457992	A	G	18	79697992	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.979331046177688	0.738
18	77457992	A	T	18	79697992	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.981997048464637	0.704
18	77457993	G	A	18	79697993	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999949740339266	0.866
18	77457993	G	C	18	79697993	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999929041542824	0.896
18	77457993	G	T	18	79697993	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999947303387921	0.866
18	77457994	T	A	18	79697994	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.562572254250761	0.456
18	77457994	T	C	18	79697994	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0997308253837804	0.318
18	77457994	T	G	18	79697994	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.603834940934233	0.504
18	77457995	G	A	18	79697995	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.09417445992413E-5	0.0
18	77457995	G	C	18	79697995	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.57810765770009E-5	0.0
18	77457995	G	T	18	79697995	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.04088875417214E-4	0.0
18	77457996	C	A	18	79697996	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.43618967336623E-6	0.002
18	77457996	C	G	18	79697996	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.98244373243359E-6	0.0
18	77457996	C	T	18	79697996	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.98244373243359E-6	0.002
18	77464755	T	A	18	79704755	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.85617273842755E-4	0.066
18	77464755	T	C	18	79704755	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.77551284006617E-5	0.004
18	77464755	T	G	18	79704755	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.86155588023642E-4	0.092
18	77464756	A	C	18	79704756	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.71084879737725E-6	0.0
18	77464756	A	G	18	79704756	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.44742432503564E-6	0.012
18	77464756	A	T	18	79704756	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.37986160165842E-5	0.064
18	77464757	T	A	18	79704757	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00179632184845944	0.076
18	77464757	T	C	18	79704757	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.93509868517701E-5	0.0
18	77464757	T	G	18	79704757	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.992150688335359	0.91
18	77464758	T	A	18	79704758	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00126176970855276	0.032
18	77464758	T	C	18	79704758	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.41274674870025E-5	0.006
18	77464758	T	G	18	79704758	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0010798179554854	0.06
18	77464759	C	A	18	79704759	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.10533678156598E-4	0.004
18	77464759	C	G	18	79704759	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.66920894202209E-4	0.018
18	77464759	C	T	18	79704759	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.27115600599632E-5	0.002
18	77464760	T	A	18	79704760	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0016145682477634	0.08
18	77464760	T	C	18	79704760	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.46924593330168E-5	0.022
18	77464760	T	G	18	79704760	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00193301737567889	0.114
18	77464761	T	A	18	79704761	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0283334406707066	0.28
18	77464761	T	C	18	79704761	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.51530351837417E-5	0.0
18	77464761	T	G	18	79704761	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0231957071735233	0.328
18	77464762	T	A	18	79704762	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.35732101273073	0.252
18	77464762	T	C	18	79704762	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.47043147028507E-4	0.04
18	77464762	T	G	18	79704762	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.609625794653176	0.312
18	77464763	T	A	18	79704763	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.12684667367963E-4	0.168
18	77464763	T	C	18	79704763	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.10080532688004E-5	0.004
18	77464763	T	G	18	79704763	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.90346416079161E-4	0.138
18	77464764	T	A	18	79704764	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00144704719592705	0.086
18	77464764	T	C	18	79704764	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.62779152411845E-5	0.004
18	77464764	T	G	18	79704764	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.96808272522118	0.644
18	77464765	A	C	18	79704765	y	y	splicing	CTDP1(NM_048368:exon5:c.622-2A>C;NM_004715:exon5:c.622-2A>C;NM_001202504:exon5:c.265-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.622-2A>C;ENST00000075430:exon5:c.622-2A>C;ENST00000591598:exon5:c.418-2A>C)	.	.	0.999807633235587	0.77
18	77464765	A	G	18	79704765	y	y	splicing	CTDP1(NM_048368:exon5:c.622-2A>G;NM_004715:exon5:c.622-2A>G;NM_001202504:exon5:c.265-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.622-2A>G;ENST00000075430:exon5:c.622-2A>G;ENST00000591598:exon5:c.418-2A>G)	.	.	0.999807633235587	0.77
18	77464765	A	T	18	79704765	y	y	splicing	CTDP1(NM_048368:exon5:c.622-2A>T;NM_004715:exon5:c.622-2A>T;NM_001202504:exon5:c.265-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.622-2A>T;ENST00000075430:exon5:c.622-2A>T;ENST00000591598:exon5:c.418-2A>T)	.	.	0.999639164250855	0.786
18	77464766	G	A	18	79704766	y	y	splicing	CTDP1(NM_048368:exon5:c.622-1G>A;NM_004715:exon5:c.622-1G>A;NM_001202504:exon5:c.265-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.622-1G>A;ENST00000075430:exon5:c.622-1G>A;ENST00000591598:exon5:c.418-1G>A)	.	.	0.999940475385113	0.874
18	77464766	G	C	18	79704766	y	y	splicing	CTDP1(NM_048368:exon5:c.622-1G>C;NM_004715:exon5:c.622-1G>C;NM_001202504:exon5:c.265-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.622-1G>C;ENST00000075430:exon5:c.622-1G>C;ENST00000591598:exon5:c.418-1G>C)	.	.	0.999940475385113	0.852
18	77464766	G	T	18	79704766	y	y	splicing	CTDP1(NM_048368:exon5:c.622-1G>T;NM_004715:exon5:c.622-1G>T;NM_001202504:exon5:c.265-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.622-1G>T;ENST00000075430:exon5:c.622-1G>T;ENST00000591598:exon5:c.418-1G>T)	.	.	0.999940475385113	0.87
18	77464767	G	A	18	79704767	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G622A:p.G208S;CTDP1:NM_001202504:exon5:c.G265A:p.G89S;CTDP1:NM_048368:exon5:c.G622A:p.G208S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G622A:p.G208S;ENSG00000060069:ENST00000075430:exon5:c.G622A:p.G208S;ENSG00000060069:ENST00000591598:exon5:c.G418A:p.G140S;	0.993491410106608	0.914
18	77464767	G	C	18	79704767	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G622C:p.G208R;CTDP1:NM_001202504:exon5:c.G265C:p.G89R;CTDP1:NM_048368:exon5:c.G622C:p.G208R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G622C:p.G208R;ENSG00000060069:ENST00000075430:exon5:c.G622C:p.G208R;ENSG00000060069:ENST00000591598:exon5:c.G418C:p.G140R;	0.999710807458633	0.922
18	77464767	G	T	18	79704767	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G622T:p.G208C;CTDP1:NM_001202504:exon5:c.G265T:p.G89C;CTDP1:NM_048368:exon5:c.G622T:p.G208C;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G622T:p.G208C;ENSG00000060069:ENST00000075430:exon5:c.G622T:p.G208C;ENSG00000060069:ENST00000591598:exon5:c.G418T:p.G140C;	0.999830524092686	0.948
18	77464768	G	A	18	79704768	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G623A:p.G208D;CTDP1:NM_001202504:exon5:c.G266A:p.G89D;CTDP1:NM_048368:exon5:c.G623A:p.G208D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G623A:p.G208D;ENSG00000060069:ENST00000075430:exon5:c.G623A:p.G208D;ENSG00000060069:ENST00000591598:exon5:c.G419A:p.G140D;	0.621357462916296	0.54
18	77464768	G	C	18	79704768	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G623C:p.G208A;CTDP1:NM_001202504:exon5:c.G266C:p.G89A;CTDP1:NM_048368:exon5:c.G623C:p.G208A;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G623C:p.G208A;ENSG00000060069:ENST00000075430:exon5:c.G623C:p.G208A;ENSG00000060069:ENST00000591598:exon5:c.G419C:p.G140A;	0.97437178423473	0.746
18	77464768	G	T	18	79704768	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G623T:p.G208V;CTDP1:NM_001202504:exon5:c.G266T:p.G89V;CTDP1:NM_048368:exon5:c.G623T:p.G208V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G623T:p.G208V;ENSG00000060069:ENST00000075430:exon5:c.G623T:p.G208V;ENSG00000060069:ENST00000591598:exon5:c.G419T:p.G140V;	0.970720093736531	0.798
18	77464915	C	A	18	79704915	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.C770A:p.A257E;CTDP1:NM_001202504:exon5:c.C413A:p.A138E;CTDP1:NM_048368:exon5:c.C770A:p.A257E;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.C770A:p.A257E;ENSG00000060069:ENST00000075430:exon5:c.C770A:p.A257E;ENSG00000060069:ENST00000591598:exon5:c.C566A:p.A189E;	0.894190282918046	0.79
18	77464915	C	G	18	79704915	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.C770G:p.A257G;CTDP1:NM_001202504:exon5:c.C413G:p.A138G;CTDP1:NM_048368:exon5:c.C770G:p.A257G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.C770G:p.A257G;ENSG00000060069:ENST00000075430:exon5:c.C770G:p.A257G;ENSG00000060069:ENST00000591598:exon5:c.C566G:p.A189G;	0.818538548716877	0.618
18	77464915	C	T	18	79704915	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.C770T:p.A257V;CTDP1:NM_001202504:exon5:c.C413T:p.A138V;CTDP1:NM_048368:exon5:c.C770T:p.A257V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.C770T:p.A257V;ENSG00000060069:ENST00000075430:exon5:c.C770T:p.A257V;ENSG00000060069:ENST00000591598:exon5:c.C566T:p.A189V;	0.99485623892219	0.852
18	77464916	A	C	18	79704916	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon5:c.A771C:p.A257A;CTDP1:NM_001202504:exon5:c.A414C:p.A138A;CTDP1:NM_048368:exon5:c.A771C:p.A257A;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.A771C:p.A257A;ENSG00000060069:ENST00000075430:exon5:c.A771C:p.A257A;ENSG00000060069:ENST00000591598:exon5:c.A567C:p.A189A;	0.31442526480312	0.574
18	77464916	A	G	18	79704916	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon5:c.A771G:p.A257A;CTDP1:NM_001202504:exon5:c.A414G:p.A138A;CTDP1:NM_048368:exon5:c.A771G:p.A257A;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.A771G:p.A257A;ENSG00000060069:ENST00000075430:exon5:c.A771G:p.A257A;ENSG00000060069:ENST00000591598:exon5:c.A567G:p.A189A;	0.535906359313018	0.514
18	77464916	A	T	18	79704916	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon5:c.A771T:p.A257A;CTDP1:NM_001202504:exon5:c.A414T:p.A138A;CTDP1:NM_048368:exon5:c.A771T:p.A257A;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.A771T:p.A257A;ENSG00000060069:ENST00000075430:exon5:c.A771T:p.A257A;ENSG00000060069:ENST00000591598:exon5:c.A567T:p.A189A;	0.409401181162739	0.596
18	77464917	G	A	18	79704917	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G772A:p.G258S;CTDP1:NM_001202504:exon5:c.G415A:p.G139S;CTDP1:NM_048368:exon5:c.G772A:p.G258S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G772A:p.G258S;ENSG00000060069:ENST00000075430:exon5:c.G772A:p.G258S;ENSG00000060069:ENST00000591598:exon5:c.G568A:p.G190S;	0.999964559638633	0.998
18	77464917	G	C	18	79704917	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G772C:p.G258R;CTDP1:NM_001202504:exon5:c.G415C:p.G139R;CTDP1:NM_048368:exon5:c.G772C:p.G258R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G772C:p.G258R;ENSG00000060069:ENST00000075430:exon5:c.G772C:p.G258R;ENSG00000060069:ENST00000591598:exon5:c.G568C:p.G190R;	0.999990943430719	1.0
18	77464917	G	T	18	79704917	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon5:c.G772T:p.G258C;CTDP1:NM_001202504:exon5:c.G415T:p.G139C;CTDP1:NM_048368:exon5:c.G772T:p.G258C;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon5:c.G772T:p.G258C;ENSG00000060069:ENST00000075430:exon5:c.G772T:p.G258C;ENSG00000060069:ENST00000591598:exon5:c.G568T:p.G190C;	0.999964382927632	0.998
18	77464918	G	A	18	79704918	y	y	splicing	CTDP1(NM_048368:exon5:c.772+1G>A;NM_004715:exon5:c.772+1G>A;NM_001202504:exon5:c.415+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.772+1G>A;ENST00000075430:exon5:c.772+1G>A;ENST00000591598:exon5:c.568+1G>A)	.	.	0.999981760802075	0.942
18	77464918	G	C	18	79704918	y	y	splicing	CTDP1(NM_048368:exon5:c.772+1G>C;NM_004715:exon5:c.772+1G>C;NM_001202504:exon5:c.415+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.772+1G>C;ENST00000075430:exon5:c.772+1G>C;ENST00000591598:exon5:c.568+1G>C)	.	.	0.999981760802075	0.942
18	77464918	G	T	18	79704918	y	y	splicing	CTDP1(NM_048368:exon5:c.772+1G>T;NM_004715:exon5:c.772+1G>T;NM_001202504:exon5:c.415+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.772+1G>T;ENST00000075430:exon5:c.772+1G>T;ENST00000591598:exon5:c.568+1G>T)	.	.	0.999981760802075	0.942
18	77464919	T	A	18	79704919	y	y	splicing	CTDP1(NM_048368:exon5:c.772+2T>A;NM_004715:exon5:c.772+2T>A;NM_001202504:exon5:c.415+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.772+2T>A;ENST00000075430:exon5:c.772+2T>A;ENST00000591598:exon5:c.568+2T>A)	.	.	0.999989917668626	0.926
18	77464919	T	C	18	79704919	y	y	splicing	CTDP1(NM_048368:exon5:c.772+2T>C;NM_004715:exon5:c.772+2T>C;NM_001202504:exon5:c.415+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.772+2T>C;ENST00000075430:exon5:c.772+2T>C;ENST00000591598:exon5:c.568+2T>C)	.	.	0.988809971481602	0.634
18	77464919	T	G	18	79704919	y	y	splicing	CTDP1(NM_048368:exon5:c.772+2T>G;NM_004715:exon5:c.772+2T>G;NM_001202504:exon5:c.415+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon5:c.772+2T>G;ENST00000075430:exon5:c.772+2T>G;ENST00000591598:exon5:c.568+2T>G)	.	.	0.999989917668626	0.926
18	77464920	C	A	18	79704920	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.20126716873042E-4	0.09
18	77464920	C	G	18	79704920	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.54402971119143E-4	0.114
18	77464920	C	T	18	79704920	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.44603224475059E-4	0.02
18	77464921	A	C	18	79704921	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.227948702289116	0.394
18	77464921	A	G	18	79704921	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.035525017423634	0.276
18	77464921	A	T	18	79704921	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.171699829965323	0.332
18	77464922	G	A	18	79704922	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.982714836602625	0.906
18	77464922	G	C	18	79704922	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.992678141672064	0.792
18	77464922	G	T	18	79704922	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.994050766387317	0.872
18	77464923	T	A	18	79704923	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0311861026062222	0.254
18	77464923	T	C	18	79704923	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.065863429743891	0.288
18	77464923	T	G	18	79704923	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0127651345965294	0.264
18	77464924	C	A	18	79704924	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.36742828518914E-4	0.002
18	77464924	C	G	18	79704924	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.57742685942123E-4	0.018
18	77464924	C	T	18	79704924	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.37465187168097E-4	0.044
18	77464925	A	C	18	79704925	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.33285134764126E-6	0.0
18	77464925	A	G	18	79704925	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.04874964171625E-5	0.0
18	77464925	A	T	18	79704925	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.57966391631852E-5	0.0
18	77470334	T	A	18	79710334	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0443961447337839	0.14
18	77470334	T	C	18	79710334	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00381248795052112	0.008
18	77470334	T	G	18	79710334	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.070914875702189	0.126
18	77470335	T	A	18	79710335	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0404941909412185	0.418
18	77470335	T	C	18	79710335	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.40141845224432E-4	0.028
18	77470335	T	G	18	79710335	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00699459881587571	0.254
18	77470336	C	A	18	79710336	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.166658707598843	0.138
18	77470336	C	G	18	79710336	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.056540829480565	0.152
18	77470336	C	T	18	79710336	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.01822436815971	0.136
18	77470337	T	A	18	79710337	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.146132610348858	0.128
18	77470337	T	C	18	79710337	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00111438425150204	0.01
18	77470337	T	G	18	79710337	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0503360331472621	0.114
18	77470338	T	A	18	79710338	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00283435544223216	0.078
18	77470338	T	C	18	79710338	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.254825132544E-5	0.002
18	77470338	T	G	18	79710338	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0027651341492825	0.15
18	77470339	T	A	18	79710339	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.040844938058653	0.098
18	77470339	T	C	18	79710339	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.98244034110138E-4	0.048
18	77470339	T	G	18	79710339	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0264745676744613	0.116
18	77470340	T	A	18	79710340	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00207767365654644	0.104
18	77470340	T	C	18	79710340	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.44747678648922E-5	0.07
18	77470340	T	G	18	79710340	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00446172361528873	0.14
18	77470341	C	A	18	79710341	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.93351994505379E-4	0.036
18	77470341	C	G	18	79710341	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.91960222539693E-4	0.134
18	77470341	C	T	18	79710341	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.11589910297327E-5	0.004
18	77470342	C	A	18	79710342	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.98261349683876E-5	0.036
18	77470342	C	G	18	79710342	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.58104664704945E-4	0.038
18	77470342	C	T	18	79710342	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.23011001264645E-5	0.036
18	77470343	A	C	18	79710343	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.96889395603357E-4	0.086
18	77470343	A	G	18	79710343	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0260196312878294	0.302
18	77470343	A	T	18	79710343	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.09880417751437E-4	0.034
18	77470344	A	C	18	79710344	y	y	splicing	CTDP1(NM_048368:exon6:c.773-2A>C;NM_004715:exon6:c.773-2A>C;NM_001202504:exon6:c.416-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.773-2A>C;ENST00000075430:exon6:c.773-2A>C;ENST00000591598:exon6:c.569-2A>C)	.	.	0.999991781128047	0.928
18	77470344	A	G	18	79710344	y	y	splicing	CTDP1(NM_048368:exon6:c.773-2A>G;NM_004715:exon6:c.773-2A>G;NM_001202504:exon6:c.416-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.773-2A>G;ENST00000075430:exon6:c.773-2A>G;ENST00000591598:exon6:c.569-2A>G)	.	.	0.999991781128047	0.928
18	77470344	A	T	18	79710344	y	y	splicing	CTDP1(NM_048368:exon6:c.773-2A>T;NM_004715:exon6:c.773-2A>T;NM_001202504:exon6:c.416-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.773-2A>T;ENST00000075430:exon6:c.773-2A>T;ENST00000591598:exon6:c.569-2A>T)	.	.	0.999993672935256	0.926
18	77470345	G	A	18	79710345	y	y	splicing	CTDP1(NM_048368:exon6:c.773-1G>A;NM_004715:exon6:c.773-1G>A;NM_001202504:exon6:c.416-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.773-1G>A;ENST00000075430:exon6:c.773-1G>A;ENST00000591598:exon6:c.569-1G>A)	.	.	0.999976368862214	0.918
18	77470345	G	C	18	79710345	y	y	splicing	CTDP1(NM_048368:exon6:c.773-1G>C;NM_004715:exon6:c.773-1G>C;NM_001202504:exon6:c.416-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.773-1G>C;ENST00000075430:exon6:c.773-1G>C;ENST00000591598:exon6:c.569-1G>C)	.	.	0.999939020951004	0.92
18	77470345	G	T	18	79710345	y	y	splicing	CTDP1(NM_048368:exon6:c.773-1G>T;NM_004715:exon6:c.773-1G>T;NM_001202504:exon6:c.416-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.773-1G>T;ENST00000075430:exon6:c.773-1G>T;ENST00000591598:exon6:c.569-1G>T)	.	.	0.999939020951004	0.918
18	77470346	G	A	18	79710346	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon6:c.G773A:p.G258D;CTDP1:NM_001202504:exon6:c.G416A:p.G139D;CTDP1:NM_048368:exon6:c.G773A:p.G258D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.G773A:p.G258D;ENSG00000060069:ENST00000075430:exon6:c.G773A:p.G258D;ENSG00000060069:ENST00000591598:exon6:c.G569A:p.G190D;	0.993876378544012	0.794
18	77470346	G	C	18	79710346	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon6:c.G773C:p.G258A;CTDP1:NM_001202504:exon6:c.G416C:p.G139A;CTDP1:NM_048368:exon6:c.G773C:p.G258A;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.G773C:p.G258A;ENSG00000060069:ENST00000075430:exon6:c.G773C:p.G258A;ENSG00000060069:ENST00000591598:exon6:c.G569C:p.G190A;	0.998099578268166	0.952
18	77470346	G	T	18	79710346	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon6:c.G773T:p.G258V;CTDP1:NM_001202504:exon6:c.G416T:p.G139V;CTDP1:NM_048368:exon6:c.G773T:p.G258V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.G773T:p.G258V;ENSG00000060069:ENST00000075430:exon6:c.G773T:p.G258V;ENSG00000060069:ENST00000591598:exon6:c.G569T:p.G190V;	0.999403826693382	0.956
18	77470347	C	A	18	79710347	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon6:c.C774A:p.G258G;CTDP1:NM_001202504:exon6:c.C417A:p.G139G;CTDP1:NM_048368:exon6:c.C774A:p.G258G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.C774A:p.G258G;ENSG00000060069:ENST00000075430:exon6:c.C774A:p.G258G;ENSG00000060069:ENST00000591598:exon6:c.C570A:p.G190G;	5.47288968643445E-5	0.0
18	77470347	C	G	18	79710347	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon6:c.C774G:p.G258G;CTDP1:NM_001202504:exon6:c.C417G:p.G139G;CTDP1:NM_048368:exon6:c.C774G:p.G258G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.C774G:p.G258G;ENSG00000060069:ENST00000075430:exon6:c.C774G:p.G258G;ENSG00000060069:ENST00000591598:exon6:c.C570G:p.G190G;	2.63580791097423E-5	0.0
18	77470347	C	T	18	79710347	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon6:c.C774T:p.G258G;CTDP1:NM_001202504:exon6:c.C417T:p.G139G;CTDP1:NM_048368:exon6:c.C774T:p.G258G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.C774T:p.G258G;ENSG00000060069:ENST00000075430:exon6:c.C774T:p.G258G;ENSG00000060069:ENST00000591598:exon6:c.C570T:p.G190G;	2.23521419875654E-5	0.0
18	77470434	T	A	18	79710434	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon6:c.T861A:p.L287L;CTDP1:NM_001202504:exon6:c.T504A:p.L168L;CTDP1:NM_048368:exon6:c.T861A:p.L287L;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.T861A:p.L287L;ENSG00000060069:ENST00000075430:exon6:c.T861A:p.L287L;ENSG00000060069:ENST00000591598:exon6:c.T657A:p.L219L;	3.51629846371099E-4	0.028
18	77470434	T	C	18	79710434	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon6:c.T861C:p.L287L;CTDP1:NM_001202504:exon6:c.T504C:p.L168L;CTDP1:NM_048368:exon6:c.T861C:p.L287L;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.T861C:p.L287L;ENSG00000060069:ENST00000075430:exon6:c.T861C:p.L287L;ENSG00000060069:ENST00000591598:exon6:c.T657C:p.L219L;	3.1384236300501E-4	0.034
18	77470434	T	G	18	79710434	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon6:c.T861G:p.L287L;CTDP1:NM_001202504:exon6:c.T504G:p.L168L;CTDP1:NM_048368:exon6:c.T861G:p.L287L;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.T861G:p.L287L;ENSG00000060069:ENST00000075430:exon6:c.T861G:p.L287L;ENSG00000060069:ENST00000591598:exon6:c.T657G:p.L219L;	7.29290513180594E-4	0.06
18	77470435	A	C	18	79710435	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon6:c.A862C:p.R288R;CTDP1:NM_001202504:exon6:c.A505C:p.R169R;CTDP1:NM_048368:exon6:c.A862C:p.R288R;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.A862C:p.R288R;ENSG00000060069:ENST00000075430:exon6:c.A862C:p.R288R;ENSG00000060069:ENST00000591598:exon6:c.A658C:p.R220R;	0.579444541367124	0.64
18	77470435	A	G	18	79710435	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon6:c.A862G:p.R288G;CTDP1:NM_001202504:exon6:c.A505G:p.R169G;CTDP1:NM_048368:exon6:c.A862G:p.R288G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.A862G:p.R288G;ENSG00000060069:ENST00000075430:exon6:c.A862G:p.R288G;ENSG00000060069:ENST00000591598:exon6:c.A658G:p.R220G;	0.886381500127606	0.61
18	77470435	A	T	18	79710435	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon6:c.A862T:p.R288X;CTDP1:NM_001202504:exon6:c.A505T:p.R169X;CTDP1:NM_048368:exon6:c.A862T:p.R288X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon6:c.A862T:p.R288X;ENSG00000060069:ENST00000075430:exon6:c.A862T:p.R288X;ENSG00000060069:ENST00000591598:exon6:c.A658T:p.R220X;	0.989450424429727	0.706
18	77470436	G	A	18	79710436	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon6:c.G863A:p.R288K;CTDP1:NM_001202504:exon6:c.G506A:p.R169K;CTDP1:NM_048368:exon6:c.G863A:p.R288K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.G863A:p.R288K;ENSG00000060069:ENST00000075430:exon6:c.G863A:p.R288K;ENSG00000060069:ENST00000591598:exon6:c.G659A:p.R220K;	0.993081902744934	0.862
18	77470436	G	C	18	79710436	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon6:c.G863C:p.R288T;CTDP1:NM_001202504:exon6:c.G506C:p.R169T;CTDP1:NM_048368:exon6:c.G863C:p.R288T;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.G863C:p.R288T;ENSG00000060069:ENST00000075430:exon6:c.G863C:p.R288T;ENSG00000060069:ENST00000591598:exon6:c.G659C:p.R220T;	0.999021000527569	0.836
18	77470436	G	T	18	79710436	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon6:c.G863T:p.R288I;CTDP1:NM_001202504:exon6:c.G506T:p.R169I;CTDP1:NM_048368:exon6:c.G863T:p.R288I;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon6:c.G863T:p.R288I;ENSG00000060069:ENST00000075430:exon6:c.G863T:p.R288I;ENSG00000060069:ENST00000591598:exon6:c.G659T:p.R220I;	0.999859130796662	0.922
18	77470437	G	A	18	79710437	y	y	splicing	CTDP1(NM_048368:exon6:c.863+1G>A;NM_004715:exon6:c.863+1G>A;NM_001202504:exon6:c.506+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.863+1G>A;ENST00000075430:exon6:c.863+1G>A;ENST00000591598:exon6:c.659+1G>A)	.	.	0.999988247793601	0.93
18	77470437	G	C	18	79710437	y	y	splicing	CTDP1(NM_048368:exon6:c.863+1G>C;NM_004715:exon6:c.863+1G>C;NM_001202504:exon6:c.506+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.863+1G>C;ENST00000075430:exon6:c.863+1G>C;ENST00000591598:exon6:c.659+1G>C)	.	.	0.999988247793601	0.93
18	77470437	G	T	18	79710437	y	y	splicing	CTDP1(NM_048368:exon6:c.863+1G>T;NM_004715:exon6:c.863+1G>T;NM_001202504:exon6:c.506+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.863+1G>T;ENST00000075430:exon6:c.863+1G>T;ENST00000591598:exon6:c.659+1G>T)	.	.	0.999988247793601	0.93
18	77470438	T	A	18	79710438	y	y	splicing	CTDP1(NM_048368:exon6:c.863+2T>A;NM_004715:exon6:c.863+2T>A;NM_001202504:exon6:c.506+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.863+2T>A;ENST00000075430:exon6:c.863+2T>A;ENST00000591598:exon6:c.659+2T>A)	.	.	0.999993672935256	0.93
18	77470438	T	C	18	79710438	y	y	splicing	CTDP1(NM_048368:exon6:c.863+2T>C;NM_004715:exon6:c.863+2T>C;NM_001202504:exon6:c.506+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.863+2T>C;ENST00000075430:exon6:c.863+2T>C;ENST00000591598:exon6:c.659+2T>C)	.	.	0.983192923323245	0.6
18	77470438	T	G	18	79710438	y	y	splicing	CTDP1(NM_048368:exon6:c.863+2T>G;NM_004715:exon6:c.863+2T>G;NM_001202504:exon6:c.506+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon6:c.863+2T>G;ENST00000075430:exon6:c.863+2T>G;ENST00000591598:exon6:c.659+2T>G)	.	.	0.999993672935256	0.928
18	77470439	A	C	18	79710439	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999411991945438	0.848
18	77470439	A	G	18	79710439	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.807433781062895	0.634
18	77470439	A	T	18	79710439	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.998124579826026	0.784
18	77470440	T	A	18	79710440	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.12400043596693E-4	0.092
18	77470440	T	C	18	79710440	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.46982560146964E-4	0.046
18	77470440	T	G	18	79710440	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.36438397771389E-5	0.032
18	77470441	G	A	18	79710441	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999039385238534	0.67
18	77470441	G	C	18	79710441	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999582301050524	0.964
18	77470441	G	T	18	79710441	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.996005052557911	0.646
18	77470442	T	A	18	79710442	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0599876248709813	0.264
18	77470442	T	C	18	79710442	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0568099954420397	0.25
18	77470442	T	G	18	79710442	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0473830104529341	0.232
18	77470443	A	C	18	79710443	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.40583297660189E-4	0.004
18	77470443	A	G	18	79710443	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.72645845728595E-5	0.006
18	77470443	A	T	18	79710443	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.72645845728595E-5	0.066
18	77470444	C	A	18	79710444	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.19886492843966E-5	0.0
18	77470444	C	G	18	79710444	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.19886492843966E-5	0.002
18	77470444	C	T	18	79710444	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.11159464097565E-5	0.0
18	77472960	T	A	18	79712960	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00161745232061854	0.138
18	77472960	T	C	18	79712960	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.06571353717075E-5	0.01
18	77472960	T	G	18	79712960	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00149878833938914	0.138
18	77472961	T	A	18	79712961	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.416596674536713	0.394
18	77472961	T	C	18	79712961	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.37532162869779E-4	0.038
18	77472961	T	G	18	79712961	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0585098308268029	0.384
18	77472962	T	A	18	79712962	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0156913618328112	0.182
18	77472962	T	C	18	79712962	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.28633925131991E-4	0.03
18	77472962	T	G	18	79712962	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00548891056642904	0.182
18	77472963	C	A	18	79712963	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.26761164542626E-4	0.018
18	77472963	C	G	18	79712963	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.33761954043805E-4	0.058
18	77472963	C	T	18	79712963	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.17842478653002E-5	0.002
18	77472964	A	C	18	79712964	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.8253915185638E-5	0.002
18	77472964	A	G	18	79712964	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.08958420706208E-5	0.0
18	77472964	A	T	18	79712964	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.74213353921879E-5	0.0
18	77472965	C	A	18	79712965	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0374401883803267	0.29
18	77472965	C	G	18	79712965	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999928995278865	0.952
18	77472965	C	T	18	79712965	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.28471665373677E-4	0.042
18	77472966	T	A	18	79712966	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0156560004705716	0.176
18	77472966	T	C	18	79712966	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.13510448316524E-4	0.02
18	77472966	T	G	18	79712966	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0139111637196239	0.184
18	77472967	T	A	18	79712967	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999728312679908	0.946
18	77472967	T	C	18	79712967	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.57917401581244E-4	0.094
18	77472967	T	G	18	79712967	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.612610803136328	0.376
18	77472968	G	A	18	79712968	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.11242559340039E-4	0.008
18	77472968	G	C	18	79712968	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.10352819185937E-4	0.002
18	77472968	G	T	18	79712968	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.66756655181271E-4	0.004
18	77472969	T	A	18	79712969	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00921066339777787	0.268
18	77472969	T	C	18	79712969	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.37484219129352E-4	0.022
18	77472969	T	G	18	79712969	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.990416451258766	0.708
18	77472970	A	C	18	79712970	y	y	splicing	CTDP1(NM_048368:exon7:c.864-2A>C;NM_004715:exon7:c.864-2A>C;NM_001202504:exon7:c.507-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.864-2A>C;ENST00000075430:exon7:c.864-2A>C;ENST00000591598:exon7:c.660-2A>C)	.	.	0.999989917668626	0.948
18	77472970	A	G	18	79712970	y	y	splicing	CTDP1(NM_048368:exon7:c.864-2A>G;NM_004715:exon7:c.864-2A>G;NM_001202504:exon7:c.507-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.864-2A>G;ENST00000075430:exon7:c.864-2A>G;ENST00000591598:exon7:c.660-2A>G)	.	.	0.999989917668626	0.948
18	77472970	A	T	18	79712970	y	y	splicing	CTDP1(NM_048368:exon7:c.864-2A>T;NM_004715:exon7:c.864-2A>T;NM_001202504:exon7:c.507-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.864-2A>T;ENST00000075430:exon7:c.864-2A>T;ENST00000591598:exon7:c.660-2A>T)	.	.	0.999989917668626	0.948
18	77472971	G	A	18	79712971	y	y	splicing	CTDP1(NM_048368:exon7:c.864-1G>A;NM_004715:exon7:c.864-1G>A;NM_001202504:exon7:c.507-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.864-1G>A;ENST00000075430:exon7:c.864-1G>A;ENST00000591598:exon7:c.660-1G>A)	.	.	0.999981760802075	0.956
18	77472971	G	C	18	79712971	y	y	splicing	CTDP1(NM_048368:exon7:c.864-1G>C;NM_004715:exon7:c.864-1G>C;NM_001202504:exon7:c.507-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.864-1G>C;ENST00000075430:exon7:c.864-1G>C;ENST00000591598:exon7:c.660-1G>C)	.	.	0.999981760802075	0.956
18	77472971	G	T	18	79712971	y	y	splicing	CTDP1(NM_048368:exon7:c.864-1G>T;NM_004715:exon7:c.864-1G>T;NM_001202504:exon7:c.507-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.864-1G>T;ENST00000075430:exon7:c.864-1G>T;ENST00000591598:exon7:c.660-1G>T)	.	.	0.999981760802075	0.956
18	77472972	A	C	18	79712972	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A864C:p.R288S;CTDP1:NM_001202504:exon7:c.A507C:p.R169S;CTDP1:NM_048368:exon7:c.A864C:p.R288S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A864C:p.R288S;ENSG00000060069:ENST00000075430:exon7:c.A864C:p.R288S;ENSG00000060069:ENST00000591598:exon7:c.A660C:p.R220S;	0.0980650591874115	0.252
18	77472972	A	G	18	79712972	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon7:c.A864G:p.R288R;CTDP1:NM_001202504:exon7:c.A507G:p.R169R;CTDP1:NM_048368:exon7:c.A864G:p.R288R;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A864G:p.R288R;ENSG00000060069:ENST00000075430:exon7:c.A864G:p.R288R;ENSG00000060069:ENST00000591598:exon7:c.A660G:p.R220R;	2.10548200310123E-4	0.0
18	77472972	A	T	18	79712972	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A864T:p.R288S;CTDP1:NM_001202504:exon7:c.A507T:p.R169S;CTDP1:NM_048368:exon7:c.A864T:p.R288S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A864T:p.R288S;ENSG00000060069:ENST00000075430:exon7:c.A864T:p.R288S;ENSG00000060069:ENST00000591598:exon7:c.A660T:p.R220S;	0.113866742619176	0.346
18	77472973	A	C	18	79712973	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A865C:p.N289H;CTDP1:NM_001202504:exon7:c.A508C:p.N170H;CTDP1:NM_048368:exon7:c.A865C:p.N289H;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A865C:p.N289H;ENSG00000060069:ENST00000075430:exon7:c.A865C:p.N289H;ENSG00000060069:ENST00000591598:exon7:c.A661C:p.N221H;	0.00282871076284599	0.042
18	77472973	A	G	18	79712973	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A865G:p.N289D;CTDP1:NM_001202504:exon7:c.A508G:p.N170D;CTDP1:NM_048368:exon7:c.A865G:p.N289D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A865G:p.N289D;ENSG00000060069:ENST00000075430:exon7:c.A865G:p.N289D;ENSG00000060069:ENST00000591598:exon7:c.A661G:p.N221D;	5.80466274065654E-4	0.034
18	77472973	A	T	18	79712973	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A865T:p.N289Y;CTDP1:NM_001202504:exon7:c.A508T:p.N170Y;CTDP1:NM_048368:exon7:c.A865T:p.N289Y;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A865T:p.N289Y;ENSG00000060069:ENST00000075430:exon7:c.A865T:p.N289Y;ENSG00000060069:ENST00000591598:exon7:c.A661T:p.N221Y;	0.0194857706768358	0.096
18	77473136	A	C	18	79713136	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A1028C:p.K343T;CTDP1:NM_001202504:exon7:c.A671C:p.K224T;CTDP1:NM_048368:exon7:c.A1028C:p.K343T;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A1028C:p.K343T;ENSG00000060069:ENST00000075430:exon7:c.A1028C:p.K343T;ENSG00000060069:ENST00000591598:exon7:c.A824C:p.K275T;	1.32234596082959E-4	0.004
18	77473136	A	G	18	79713136	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A1028G:p.K343R;CTDP1:NM_001202504:exon7:c.A671G:p.K224R;CTDP1:NM_048368:exon7:c.A1028G:p.K343R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A1028G:p.K343R;ENSG00000060069:ENST00000075430:exon7:c.A1028G:p.K343R;ENSG00000060069:ENST00000591598:exon7:c.A824G:p.K275R;	4.14729918367792E-4	0.012
18	77473136	A	T	18	79713136	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A1028T:p.K343I;CTDP1:NM_001202504:exon7:c.A671T:p.K224I;CTDP1:NM_048368:exon7:c.A1028T:p.K343I;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A1028T:p.K343I;ENSG00000060069:ENST00000075430:exon7:c.A1028T:p.K343I;ENSG00000060069:ENST00000591598:exon7:c.A824T:p.K275I;	0.00673508335233116	0.458
18	77473137	A	C	18	79713137	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A1029C:p.K343N;CTDP1:NM_001202504:exon7:c.A672C:p.K224N;CTDP1:NM_048368:exon7:c.A1029C:p.K343N;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A1029C:p.K343N;ENSG00000060069:ENST00000075430:exon7:c.A1029C:p.K343N;ENSG00000060069:ENST00000591598:exon7:c.A825C:p.K275N;	0.919291947178119	0.716
18	77473137	A	G	18	79713137	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon7:c.A1029G:p.K343K;CTDP1:NM_001202504:exon7:c.A672G:p.K224K;CTDP1:NM_048368:exon7:c.A1029G:p.K343K;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A1029G:p.K343K;ENSG00000060069:ENST00000075430:exon7:c.A1029G:p.K343K;ENSG00000060069:ENST00000591598:exon7:c.A825G:p.K275K;	0.970178032624306	0.604
18	77473137	A	T	18	79713137	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.A1029T:p.K343N;CTDP1:NM_001202504:exon7:c.A672T:p.K224N;CTDP1:NM_048368:exon7:c.A1029T:p.K343N;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.A1029T:p.K343N;ENSG00000060069:ENST00000075430:exon7:c.A1029T:p.K343N;ENSG00000060069:ENST00000591598:exon7:c.A825T:p.K275N;	0.997788274746131	0.912
18	77473138	G	A	18	79713138	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.G1030A:p.V344I;CTDP1:NM_001202504:exon7:c.G673A:p.V225I;CTDP1:NM_048368:exon7:c.G1030A:p.V344I;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.G1030A:p.V344I;ENSG00000060069:ENST00000075430:exon7:c.G1030A:p.V344I;ENSG00000060069:ENST00000591598:exon7:c.G826A:p.V276I;	0.999636330861446	0.97
18	77473138	G	C	18	79713138	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.G1030C:p.V344L;CTDP1:NM_001202504:exon7:c.G673C:p.V225L;CTDP1:NM_048368:exon7:c.G1030C:p.V344L;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.G1030C:p.V344L;ENSG00000060069:ENST00000075430:exon7:c.G1030C:p.V344L;ENSG00000060069:ENST00000591598:exon7:c.G826C:p.V276L;	0.999992972112342	0.956
18	77473138	G	T	18	79713138	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon7:c.G1030T:p.V344L;CTDP1:NM_001202504:exon7:c.G673T:p.V225L;CTDP1:NM_048368:exon7:c.G1030T:p.V344L;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon7:c.G1030T:p.V344L;ENSG00000060069:ENST00000075430:exon7:c.G1030T:p.V344L;ENSG00000060069:ENST00000591598:exon7:c.G826T:p.V276L;	0.999893147582329	0.938
18	77473139	G	A	18	79713139	y	y	splicing	CTDP1(NM_048368:exon7:c.1030+1G>A;NM_004715:exon7:c.1030+1G>A;NM_001202504:exon7:c.673+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.1030+1G>A;ENST00000075430:exon7:c.1030+1G>A;ENST00000591598:exon7:c.826+1G>A)	.	.	0.999916487880886	0.942
18	77473139	G	C	18	79713139	y	y	splicing	CTDP1(NM_048368:exon7:c.1030+1G>C;NM_004715:exon7:c.1030+1G>C;NM_001202504:exon7:c.673+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.1030+1G>C;ENST00000075430:exon7:c.1030+1G>C;ENST00000591598:exon7:c.826+1G>C)	.	.	0.999916487880886	0.952
18	77473139	G	T	18	79713139	y	y	splicing	CTDP1(NM_048368:exon7:c.1030+1G>T;NM_004715:exon7:c.1030+1G>T;NM_001202504:exon7:c.673+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.1030+1G>T;ENST00000075430:exon7:c.1030+1G>T;ENST00000591598:exon7:c.826+1G>T)	.	.	0.999916487880886	0.954
18	77473140	T	A	18	79713140	y	y	splicing	CTDP1(NM_048368:exon7:c.1030+2T>A;NM_004715:exon7:c.1030+2T>A;NM_001202504:exon7:c.673+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.1030+2T>A;ENST00000075430:exon7:c.1030+2T>A;ENST00000591598:exon7:c.826+2T>A)	.	.	0.999966514958823	0.942
18	77473140	T	C	18	79713140	y	y	splicing	CTDP1(NM_048368:exon7:c.1030+2T>C;NM_004715:exon7:c.1030+2T>C;NM_001202504:exon7:c.673+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.1030+2T>C;ENST00000075430:exon7:c.1030+2T>C;ENST00000591598:exon7:c.826+2T>C)	.	.	0.999827552774224	0.896
18	77473140	T	G	18	79713140	y	y	splicing	CTDP1(NM_048368:exon7:c.1030+2T>G;NM_004715:exon7:c.1030+2T>G;NM_001202504:exon7:c.673+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon7:c.1030+2T>G;ENST00000075430:exon7:c.1030+2T>G;ENST00000591598:exon7:c.826+2T>G)	.	.	0.999966514958823	0.936
18	77473141	G	A	18	79713141	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.67035011766902E-5	0.038
18	77473141	G	C	18	79713141	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0123265068690141	0.24
18	77473141	G	T	18	79713141	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00952520026938577	0.25
18	77473142	G	A	18	79713142	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.0837886457076E-4	0.102
18	77473142	G	C	18	79713142	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.4846684338163E-5	0.036
18	77473142	G	T	18	79713142	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.95846703815611E-4	0.08
18	77473143	G	A	18	79713143	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.98646715964663	0.636
18	77473143	G	C	18	79713143	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999884171408332	0.782
18	77473143	G	T	18	79713143	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.998120205215596	0.704
18	77473144	T	A	18	79713144	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0436650891655349	0.134
18	77473144	T	C	18	79713144	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.010574703806989	0.084
18	77473144	T	G	18	79713144	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0188341154022597	0.144
18	77473145	A	C	18	79713145	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.8802919687984E-5	0.0
18	77473145	A	G	18	79713145	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.01513986104772E-5	0.002
18	77473145	A	T	18	79713145	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.05984167375126E-4	0.024
18	77473146	A	C	18	79713146	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.33690502135986E-5	0.002
18	77473146	A	G	18	79713146	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.47386503211703E-5	0.002
18	77473146	A	T	18	79713146	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.99049427680259E-5	0.002
18	77474479	A	C	18	79714479	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.21946853154343E-5	0.0
18	77474479	A	G	18	79714479	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.87242362069069E-5	0.038
18	77474479	A	T	18	79714479	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.70434365744408E-5	0.05
18	77474480	T	A	18	79714480	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.985762041182325	0.794
18	77474480	T	C	18	79714480	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.20684785995446E-4	0.082
18	77474480	T	G	18	79714480	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.976168434247536	0.758
18	77474481	G	A	18	79714481	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.78623034572724E-4	0.048
18	77474481	G	C	18	79714481	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.1835374181605E-4	0.024
18	77474481	G	T	18	79714481	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.45734172425405E-4	0.034
18	77474482	C	A	18	79714482	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.73912895946875E-4	0.118
18	77474482	C	G	18	79714482	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.80050798248364E-4	0.1
18	77474482	C	T	18	79714482	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.88878810933521E-5	0.014
18	77474483	A	C	18	79714483	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.51132577459091E-4	0.004
18	77474483	A	G	18	79714483	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.39517901275325E-5	0.02
18	77474483	A	T	18	79714483	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.51132577459091E-4	0.046
18	77474484	T	A	18	79714484	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0274596976277488	0.368
18	77474484	T	C	18	79714484	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.23064983798602E-5	0.044
18	77474484	T	G	18	79714484	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.998942938978809	0.978
18	77474485	A	C	18	79714485	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.27219349862041E-5	0.026
18	77474485	A	G	18	79714485	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.06341561599038E-6	0.01
18	77474485	A	T	18	79714485	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.72574789847114E-5	0.0
18	77474486	T	A	18	79714486	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.62743341311929	0.572
18	77474486	T	C	18	79714486	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00207438259462505	0.164
18	77474486	T	G	18	79714486	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999589330343499	0.932
18	77474487	T	A	18	79714487	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.75969500333009E-5	0.056
18	77474487	T	C	18	79714487	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.50236194108119E-5	0.014
18	77474487	T	G	18	79714487	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.06147234145634E-5	0.028
18	77474488	T	A	18	79714488	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00487570020574615	0.236
18	77474488	T	C	18	79714488	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.21616385746529E-5	0.01
18	77474488	T	G	18	79714488	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.089623588858645	0.438
18	77474489	A	C	18	79714489	y	y	splicing	CTDP1(NM_048368:exon8:c.1031-2A>C;NM_004715:exon8:c.1031-2A>C;NM_001202504:exon8:c.674-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.1031-2A>C;ENST00000075430:exon8:c.1031-2A>C;ENST00000591598:exon8:c.827-2A>C)	.	.	0.999556830561028	0.724
18	77474489	A	G	18	79714489	y	y	splicing	CTDP1(NM_048368:exon8:c.1031-2A>G;NM_004715:exon8:c.1031-2A>G;NM_001202504:exon8:c.674-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.1031-2A>G;ENST00000075430:exon8:c.1031-2A>G;ENST00000591598:exon8:c.827-2A>G)	.	.	0.999556830561028	0.726
18	77474489	A	T	18	79714489	y	y	splicing	CTDP1(NM_048368:exon8:c.1031-2A>T;NM_004715:exon8:c.1031-2A>T;NM_001202504:exon8:c.674-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.1031-2A>T;ENST00000075430:exon8:c.1031-2A>T;ENST00000591598:exon8:c.827-2A>T)	.	.	0.999556830561028	0.746
18	77474490	G	A	18	79714490	y	y	splicing	CTDP1(NM_048368:exon8:c.1031-1G>A;NM_004715:exon8:c.1031-1G>A;NM_001202504:exon8:c.674-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.1031-1G>A;ENST00000075430:exon8:c.1031-1G>A;ENST00000591598:exon8:c.827-1G>A)	.	.	0.999775565571795	0.832
18	77474490	G	C	18	79714490	y	y	splicing	CTDP1(NM_048368:exon8:c.1031-1G>C;NM_004715:exon8:c.1031-1G>C;NM_001202504:exon8:c.674-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.1031-1G>C;ENST00000075430:exon8:c.1031-1G>C;ENST00000591598:exon8:c.827-1G>C)	.	.	0.999775565571795	0.83
18	77474490	G	T	18	79714490	y	y	splicing	CTDP1(NM_048368:exon8:c.1031-1G>T;NM_004715:exon8:c.1031-1G>T;NM_001202504:exon8:c.674-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.1031-1G>T;ENST00000075430:exon8:c.1031-1G>T;ENST00000591598:exon8:c.827-1G>T)	.	.	0.999775565571795	0.842
18	77474491	T	A	18	79714491	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.T1031A:p.V344E;CTDP1:NM_001202504:exon8:c.T674A:p.V225E;CTDP1:NM_048368:exon8:c.T1031A:p.V344E;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.T1031A:p.V344E;ENSG00000060069:ENST00000075430:exon8:c.T1031A:p.V344E;ENSG00000060069:ENST00000591598:exon8:c.T827A:p.V276E;	1.95395729771095E-5	0.002
18	77474491	T	C	18	79714491	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.T1031C:p.V344A;CTDP1:NM_001202504:exon8:c.T674C:p.V225A;CTDP1:NM_048368:exon8:c.T1031C:p.V344A;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.T1031C:p.V344A;ENSG00000060069:ENST00000075430:exon8:c.T1031C:p.V344A;ENSG00000060069:ENST00000591598:exon8:c.T827C:p.V276A;	7.28454986259042E-5	0.014
18	77474491	T	G	18	79714491	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.T1031G:p.V344G;CTDP1:NM_001202504:exon8:c.T674G:p.V225G;CTDP1:NM_048368:exon8:c.T1031G:p.V344G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.T1031G:p.V344G;ENSG00000060069:ENST00000075430:exon8:c.T1031G:p.V344G;ENSG00000060069:ENST00000591598:exon8:c.T827G:p.V276G;	1.03552359995048E-4	0.058
18	77474492	A	C	18	79714492	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon8:c.A1032C:p.V344V;CTDP1:NM_001202504:exon8:c.A675C:p.V225V;CTDP1:NM_048368:exon8:c.A1032C:p.V344V;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.A1032C:p.V344V;ENSG00000060069:ENST00000075430:exon8:c.A1032C:p.V344V;ENSG00000060069:ENST00000591598:exon8:c.A828C:p.V276V;	1.4291453738588E-5	0.0
18	77474492	A	G	18	79714492	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon8:c.A1032G:p.V344V;CTDP1:NM_001202504:exon8:c.A675G:p.V225V;CTDP1:NM_048368:exon8:c.A1032G:p.V344V;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.A1032G:p.V344V;ENSG00000060069:ENST00000075430:exon8:c.A1032G:p.V344V;ENSG00000060069:ENST00000591598:exon8:c.A828G:p.V276V;	1.34809247897564E-5	0.028
18	77474492	A	T	18	79714492	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon8:c.A1032T:p.V344V;CTDP1:NM_001202504:exon8:c.A675T:p.V225V;CTDP1:NM_048368:exon8:c.A1032T:p.V344V;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.A1032T:p.V344V;ENSG00000060069:ENST00000075430:exon8:c.A1032T:p.V344V;ENSG00000060069:ENST00000591598:exon8:c.A828T:p.V276V;	9.44149590031716E-6	0.002
18	77475526	C	A	18	79715526	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.C2066A:p.A689D;CTDP1:NM_001202504:exon8:c.C1709A:p.A570D;CTDP1:NM_048368:exon8:c.C2066A:p.A689D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.C2066A:p.A689D;ENSG00000060069:ENST00000075430:exon8:c.C2066A:p.A689D;ENSG00000060069:ENST00000591598:exon8:c.C1862A:p.A621D;	0.399144231287938	0.654
18	77475526	C	G	18	79715526	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.C2066G:p.A689G;CTDP1:NM_001202504:exon8:c.C1709G:p.A570G;CTDP1:NM_048368:exon8:c.C2066G:p.A689G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.C2066G:p.A689G;ENSG00000060069:ENST00000075430:exon8:c.C2066G:p.A689G;ENSG00000060069:ENST00000591598:exon8:c.C1862G:p.A621G;	0.132777423403106	0.392
18	77475526	C	T	18	79715526	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.C2066T:p.A689V;CTDP1:NM_001202504:exon8:c.C1709T:p.A570V;CTDP1:NM_048368:exon8:c.C2066T:p.A689V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.C2066T:p.A689V;ENSG00000060069:ENST00000075430:exon8:c.C2066T:p.A689V;ENSG00000060069:ENST00000591598:exon8:c.C1862T:p.A621V;	0.943116159403082	0.49
18	77475527	T	A	18	79715527	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon8:c.T2067A:p.A689A;CTDP1:NM_001202504:exon8:c.T1710A:p.A570A;CTDP1:NM_048368:exon8:c.T2067A:p.A689A;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.T2067A:p.A689A;ENSG00000060069:ENST00000075430:exon8:c.T2067A:p.A689A;ENSG00000060069:ENST00000591598:exon8:c.T1863A:p.A621A;	1.92465003440717E-5	0.05
18	77475527	T	C	18	79715527	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon8:c.T2067C:p.A689A;CTDP1:NM_001202504:exon8:c.T1710C:p.A570A;CTDP1:NM_048368:exon8:c.T2067C:p.A689A;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.T2067C:p.A689A;ENSG00000060069:ENST00000075430:exon8:c.T2067C:p.A689A;ENSG00000060069:ENST00000591598:exon8:c.T1863C:p.A621A;	7.06341561599038E-6	0.0
18	77475527	T	G	18	79715527	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon8:c.T2067G:p.A689A;CTDP1:NM_001202504:exon8:c.T1710G:p.A570A;CTDP1:NM_048368:exon8:c.T2067G:p.A689A;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.T2067G:p.A689A;ENSG00000060069:ENST00000075430:exon8:c.T2067G:p.A689A;ENSG00000060069:ENST00000591598:exon8:c.T1863G:p.A621A;	1.72052128535208E-5	0.0
18	77475528	G	A	18	79715528	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.G2068A:p.G690S;CTDP1:NM_001202504:exon8:c.G1711A:p.G571S;CTDP1:NM_048368:exon8:c.G2068A:p.G690S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.G2068A:p.G690S;ENSG00000060069:ENST00000075430:exon8:c.G2068A:p.G690S;ENSG00000060069:ENST00000591598:exon8:c.G1864A:p.G622S;	0.999827456116866	0.982
18	77475528	G	C	18	79715528	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.G2068C:p.G690R;CTDP1:NM_001202504:exon8:c.G1711C:p.G571R;CTDP1:NM_048368:exon8:c.G2068C:p.G690R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.G2068C:p.G690R;ENSG00000060069:ENST00000075430:exon8:c.G2068C:p.G690R;ENSG00000060069:ENST00000591598:exon8:c.G1864C:p.G622R;	0.999974192105906	0.982
18	77475528	G	T	18	79715528	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon8:c.G2068T:p.G690C;CTDP1:NM_001202504:exon8:c.G1711T:p.G571C;CTDP1:NM_048368:exon8:c.G2068T:p.G690C;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon8:c.G2068T:p.G690C;ENSG00000060069:ENST00000075430:exon8:c.G2068T:p.G690C;ENSG00000060069:ENST00000591598:exon8:c.G1864T:p.G622C;	0.999889123985311	0.958
18	77475529	G	A	18	79715529	y	y	splicing	CTDP1(NM_048368:exon8:c.2068+1G>A;NM_004715:exon8:c.2068+1G>A;NM_001202504:exon8:c.1711+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.2068+1G>A;ENST00000075430:exon8:c.2068+1G>A;ENST00000591598:exon8:c.1864+1G>A)	.	.	0.999989917668626	0.924
18	77475529	G	C	18	79715529	y	y	splicing	CTDP1(NM_048368:exon8:c.2068+1G>C;NM_004715:exon8:c.2068+1G>C;NM_001202504:exon8:c.1711+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.2068+1G>C;ENST00000075430:exon8:c.2068+1G>C;ENST00000591598:exon8:c.1864+1G>C)	.	.	0.999986903042585	0.926
18	77475529	G	T	18	79715529	y	y	splicing	CTDP1(NM_048368:exon8:c.2068+1G>T;NM_004715:exon8:c.2068+1G>T;NM_001202504:exon8:c.1711+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.2068+1G>T;ENST00000075430:exon8:c.2068+1G>T;ENST00000591598:exon8:c.1864+1G>T)	.	.	0.999986903042585	0.926
18	77475530	T	A	18	79715530	y	y	splicing	CTDP1(NM_048368:exon8:c.2068+2T>A;NM_004715:exon8:c.2068+2T>A;NM_001202504:exon8:c.1711+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.2068+2T>A;ENST00000075430:exon8:c.2068+2T>A;ENST00000591598:exon8:c.1864+2T>A)	.	.	0.999991781128047	0.928
18	77475530	T	C	18	79715530	y	y	splicing	CTDP1(NM_048368:exon8:c.2068+2T>C;NM_004715:exon8:c.2068+2T>C;NM_001202504:exon8:c.1711+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.2068+2T>C;ENST00000075430:exon8:c.2068+2T>C;ENST00000591598:exon8:c.1864+2T>C)	.	.	0.999830218190129	0.85
18	77475530	T	G	18	79715530	y	y	splicing	CTDP1(NM_048368:exon8:c.2068+2T>G;NM_004715:exon8:c.2068+2T>G;NM_001202504:exon8:c.1711+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon8:c.2068+2T>G;ENST00000075430:exon8:c.2068+2T>G;ENST00000591598:exon8:c.1864+2T>G)	.	.	0.999978791067592	0.926
18	77475531	G	A	18	79715531	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.71693160108125E-5	0.002
18	77475531	G	C	18	79715531	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.511421077461127	0.426
18	77475531	G	T	18	79715531	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.442223546714105	0.438
18	77475532	A	C	18	79715532	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.505064346721167	0.414
18	77475532	A	G	18	79715532	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.92484639524583	0.616
18	77475532	A	T	18	79715532	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.978929249173219	0.618
18	77475533	G	A	18	79715533	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.99969893681868	0.968
18	77475533	G	C	18	79715533	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.99991200462416	0.888
18	77475533	G	T	18	79715533	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999718102756234	0.938
18	77475534	T	A	18	79715534	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0859259557272926	0.196
18	77475534	T	C	18	79715534	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0634175160510763	0.218
18	77475534	T	G	18	79715534	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.011922770721943	0.064
18	77475535	G	A	18	79715535	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.47106622823765E-5	0.0
18	77475535	G	C	18	79715535	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.45992055671961E-5	0.0
18	77475535	G	T	18	79715535	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.20967247387226E-5	0.0
18	77475536	C	A	18	79715536	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.73659410988803E-5	0.0
18	77475536	C	G	18	79715536	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.2363481151141E-4	0.044
18	77475536	C	T	18	79715536	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.73659410988803E-5	0.0
18	77477523	G	A	18	79717523	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.9993393700969	0.986
18	77477523	G	C	18	79717523	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.3017249877824E-5	0.0
18	77477523	G	T	18	79717523	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.46391153271922E-5	0.018
18	77477524	G	A	18	79717524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.31677623298327E-4	0.082
18	77477524	G	C	18	79717524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.23518985908565E-5	0.014
18	77477524	G	T	18	79717524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.4704682317704E-5	0.018
18	77477525	T	A	18	79717525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.769427658988039	0.634
18	77477525	T	C	18	79717525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00349974958132595	0.18
18	77477525	T	G	18	79717525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.46241106262277	0.566
18	77477526	C	A	18	79717526	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0121262518526322	0.112
18	77477526	C	G	18	79717526	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00916376243464199	0.122
18	77477526	C	T	18	79717526	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.81403074654515E-4	0.012
18	77477527	T	A	18	79717527	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0185852839583669	0.164
18	77477527	T	C	18	79717527	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.17934502097798E-5	0.002
18	77477527	T	G	18	79717527	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00257796157846192	0.168
18	77477528	C	A	18	79717528	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00295533972056554	0.094
18	77477528	C	G	18	79717528	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0031074168281189	0.098
18	77477528	C	T	18	79717528	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.12909058588245E-5	0.008
18	77477529	C	A	18	79717529	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00485944549884571	0.274
18	77477529	C	G	18	79717529	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0033005528388508	0.25
18	77477529	C	T	18	79717529	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.12851308083221E-5	0.008
18	77477530	T	A	18	79717530	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.918617512154457	0.684
18	77477530	T	C	18	79717530	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.29536404904256E-4	0.024
18	77477530	T	G	18	79717530	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0767930559410587	0.23
18	77477531	G	A	18	79717531	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.45555085336899E-5	0.002
18	77477531	G	C	18	79717531	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.45933742848524E-5	0.0
18	77477531	G	T	18	79717531	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.72949286338712E-5	0.012
18	77477532	C	A	18	79717532	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.975354745317595	0.792
18	77477532	C	G	18	79717532	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999362298800879	0.768
18	77477532	C	T	18	79717532	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.31333310619237E-4	0.058
18	77477533	A	C	18	79717533	y	y	splicing	CTDP1(NM_048368:exon9:c.2069-2A>C;NM_004715:exon9:c.2069-2A>C;NM_001202504:exon9:c.1712-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2069-2A>C;ENST00000075430:exon9:c.2069-2A>C;ENST00000591598:exon9:c.1865-2A>C)	.	.	0.999988624979899	0.93
18	77477533	A	G	18	79717533	y	y	splicing	CTDP1(NM_048368:exon9:c.2069-2A>G;NM_004715:exon9:c.2069-2A>G;NM_001202504:exon9:c.1712-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2069-2A>G;ENST00000075430:exon9:c.2069-2A>G;ENST00000591598:exon9:c.1865-2A>G)	.	.	0.999988624979899	0.93
18	77477533	A	T	18	79717533	y	y	splicing	CTDP1(NM_048368:exon9:c.2069-2A>T;NM_004715:exon9:c.2069-2A>T;NM_001202504:exon9:c.1712-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2069-2A>T;ENST00000075430:exon9:c.2069-2A>T;ENST00000591598:exon9:c.1865-2A>T)	.	.	0.999988624979899	0.922
18	77477534	G	A	18	79717534	y	y	splicing	CTDP1(NM_048368:exon9:c.2069-1G>A;NM_004715:exon9:c.2069-1G>A;NM_001202504:exon9:c.1712-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2069-1G>A;ENST00000075430:exon9:c.2069-1G>A;ENST00000591598:exon9:c.1865-1G>A)	.	.	0.999984967332678	0.946
18	77477534	G	C	18	79717534	y	y	splicing	CTDP1(NM_048368:exon9:c.2069-1G>C;NM_004715:exon9:c.2069-1G>C;NM_001202504:exon9:c.1712-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2069-1G>C;ENST00000075430:exon9:c.2069-1G>C;ENST00000591598:exon9:c.1865-1G>C)	.	.	0.999984967332678	0.946
18	77477534	G	T	18	79717534	y	y	splicing	CTDP1(NM_048368:exon9:c.2069-1G>T;NM_004715:exon9:c.2069-1G>T;NM_001202504:exon9:c.1712-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2069-1G>T;ENST00000075430:exon9:c.2069-1G>T;ENST00000591598:exon9:c.1865-1G>T)	.	.	0.999984967332678	0.946
18	77477535	G	A	18	79717535	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.G2069A:p.G690D;CTDP1:NM_001202504:exon9:c.G1712A:p.G571D;CTDP1:NM_048368:exon9:c.G2069A:p.G690D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2069A:p.G690D;ENSG00000060069:ENST00000075430:exon9:c.G2069A:p.G690D;ENSG00000060069:ENST00000591598:exon9:c.G1865A:p.G622D;	0.999456612266557	0.85
18	77477535	G	C	18	79717535	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.G2069C:p.G690A;CTDP1:NM_001202504:exon9:c.G1712C:p.G571A;CTDP1:NM_048368:exon9:c.G2069C:p.G690A;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2069C:p.G690A;ENSG00000060069:ENST00000075430:exon9:c.G2069C:p.G690A;ENSG00000060069:ENST00000591598:exon9:c.G1865C:p.G622A;	0.999290188888093	0.98
18	77477535	G	T	18	79717535	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.G2069T:p.G690V;CTDP1:NM_001202504:exon9:c.G1712T:p.G571V;CTDP1:NM_048368:exon9:c.G2069T:p.G690V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2069T:p.G690V;ENSG00000060069:ENST00000075430:exon9:c.G2069T:p.G690V;ENSG00000060069:ENST00000591598:exon9:c.G1865T:p.G622V;	0.999660966190038	0.994
18	77477536	C	A	18	79717536	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon9:c.C2070A:p.G690G;CTDP1:NM_001202504:exon9:c.C1713A:p.G571G;CTDP1:NM_048368:exon9:c.C2070A:p.G690G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.C2070A:p.G690G;ENSG00000060069:ENST00000075430:exon9:c.C2070A:p.G690G;ENSG00000060069:ENST00000591598:exon9:c.C1866A:p.G622G;	0.00151369903608589	0.11
18	77477536	C	G	18	79717536	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon9:c.C2070G:p.G690G;CTDP1:NM_001202504:exon9:c.C1713G:p.G571G;CTDP1:NM_048368:exon9:c.C2070G:p.G690G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.C2070G:p.G690G;ENSG00000060069:ENST00000075430:exon9:c.C2070G:p.G690G;ENSG00000060069:ENST00000591598:exon9:c.C1866G:p.G622G;	0.00166898652918201	0.016
18	77477536	C	T	18	79717536	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon9:c.C2070T:p.G690G;CTDP1:NM_001202504:exon9:c.C1713T:p.G571G;CTDP1:NM_048368:exon9:c.C2070T:p.G690G;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.C2070T:p.G690G;ENSG00000060069:ENST00000075430:exon9:c.C2070T:p.G690G;ENSG00000060069:ENST00000591598:exon9:c.C1866T:p.G622G;	9.45008639417537E-4	0.022
18	77477674	G	A	18	79717674	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon9:c.G2208A:p.Q736Q;CTDP1:NM_001202504:exon9:c.G1851A:p.Q617Q;CTDP1:NM_048368:exon9:c.G2208A:p.Q736Q;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2208A:p.Q736Q;ENSG00000060069:ENST00000075430:exon9:c.G2208A:p.Q736Q;ENSG00000060069:ENST00000591598:exon9:c.G2004A:p.Q668Q;	6.25682479538314E-5	0.0
18	77477674	G	C	18	79717674	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.G2208C:p.Q736H;CTDP1:NM_001202504:exon9:c.G1851C:p.Q617H;CTDP1:NM_048368:exon9:c.G2208C:p.Q736H;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2208C:p.Q736H;ENSG00000060069:ENST00000075430:exon9:c.G2208C:p.Q736H;ENSG00000060069:ENST00000591598:exon9:c.G2004C:p.Q668H;	2.29805595954209E-5	0.006
18	77477674	G	T	18	79717674	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.G2208T:p.Q736H;CTDP1:NM_001202504:exon9:c.G1851T:p.Q617H;CTDP1:NM_048368:exon9:c.G2208T:p.Q736H;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2208T:p.Q736H;ENSG00000060069:ENST00000075430:exon9:c.G2208T:p.Q736H;ENSG00000060069:ENST00000591598:exon9:c.G2004T:p.Q668H;	0.00333082539237939	0.038
18	77477675	A	C	18	79717675	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon9:c.A2209C:p.R737R;CTDP1:NM_001202504:exon9:c.A1852C:p.R618R;CTDP1:NM_048368:exon9:c.A2209C:p.R737R;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.A2209C:p.R737R;ENSG00000060069:ENST00000075430:exon9:c.A2209C:p.R737R;ENSG00000060069:ENST00000591598:exon9:c.A2005C:p.R669R;	0.124297847353534	0.524
18	77477675	A	G	18	79717675	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.A2209G:p.R737G;CTDP1:NM_001202504:exon9:c.A1852G:p.R618G;CTDP1:NM_048368:exon9:c.A2209G:p.R737G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.A2209G:p.R737G;ENSG00000060069:ENST00000075430:exon9:c.A2209G:p.R737G;ENSG00000060069:ENST00000591598:exon9:c.A2005G:p.R669G;	0.996171715605342	0.758
18	77477675	A	T	18	79717675	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.A2209T:p.R737W;CTDP1:NM_001202504:exon9:c.A1852T:p.R618W;CTDP1:NM_048368:exon9:c.A2209T:p.R737W;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.A2209T:p.R737W;ENSG00000060069:ENST00000075430:exon9:c.A2209T:p.R737W;ENSG00000060069:ENST00000591598:exon9:c.A2005T:p.R669W;	0.996460307340973	0.88
18	77477676	G	A	18	79717676	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.G2210A:p.R737K;CTDP1:NM_001202504:exon9:c.G1853A:p.R618K;CTDP1:NM_048368:exon9:c.G2210A:p.R737K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2210A:p.R737K;ENSG00000060069:ENST00000075430:exon9:c.G2210A:p.R737K;ENSG00000060069:ENST00000591598:exon9:c.G2006A:p.R669K;	0.999975140828606	0.994
18	77477676	G	C	18	79717676	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.G2210C:p.R737T;CTDP1:NM_001202504:exon9:c.G1853C:p.R618T;CTDP1:NM_048368:exon9:c.G2210C:p.R737T;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2210C:p.R737T;ENSG00000060069:ENST00000075430:exon9:c.G2210C:p.R737T;ENSG00000060069:ENST00000591598:exon9:c.G2006C:p.R669T;	0.999992136725651	0.996
18	77477676	G	T	18	79717676	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon9:c.G2210T:p.R737M;CTDP1:NM_001202504:exon9:c.G1853T:p.R618M;CTDP1:NM_048368:exon9:c.G2210T:p.R737M;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon9:c.G2210T:p.R737M;ENSG00000060069:ENST00000075430:exon9:c.G2210T:p.R737M;ENSG00000060069:ENST00000591598:exon9:c.G2006T:p.R669M;	0.999980135848785	0.996
18	77477677	G	A	18	79717677	y	y	splicing	CTDP1(NM_048368:exon9:c.2210+1G>A;NM_004715:exon9:c.2210+1G>A;NM_001202504:exon9:c.1853+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2210+1G>A;ENST00000075430:exon9:c.2210+1G>A;ENST00000591598:exon9:c.2006+1G>A)	.	.	0.99996748057446	0.904
18	77477677	G	C	18	79717677	y	y	splicing	CTDP1(NM_048368:exon9:c.2210+1G>C;NM_004715:exon9:c.2210+1G>C;NM_001202504:exon9:c.1853+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2210+1G>C;ENST00000075430:exon9:c.2210+1G>C;ENST00000591598:exon9:c.2006+1G>C)	.	.	0.99996748057446	0.896
18	77477677	G	T	18	79717677	y	y	splicing	CTDP1(NM_048368:exon9:c.2210+1G>T;NM_004715:exon9:c.2210+1G>T;NM_001202504:exon9:c.1853+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2210+1G>T;ENST00000075430:exon9:c.2210+1G>T;ENST00000591598:exon9:c.2006+1G>T)	.	.	0.99996748057446	0.902
18	77477678	T	A	18	79717678	y	y	splicing	CTDP1(NM_048368:exon9:c.2210+2T>A;NM_004715:exon9:c.2210+2T>A;NM_001202504:exon9:c.1853+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2210+2T>A;ENST00000075430:exon9:c.2210+2T>A;ENST00000591598:exon9:c.2006+2T>A)	.	.	0.999871793741964	0.844
18	77477678	T	C	18	79717678	y	y	splicing	CTDP1(NM_048368:exon9:c.2210+2T>C;NM_004715:exon9:c.2210+2T>C;NM_001202504:exon9:c.1853+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2210+2T>C;ENST00000075430:exon9:c.2210+2T>C;ENST00000591598:exon9:c.2006+2T>C)	.	.	0.999161754965745	0.78
18	77477678	T	G	18	79717678	y	y	splicing	CTDP1(NM_048368:exon9:c.2210+2T>G;NM_004715:exon9:c.2210+2T>G;NM_001202504:exon9:c.1853+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon9:c.2210+2T>G;ENST00000075430:exon9:c.2210+2T>G;ENST00000591598:exon9:c.2006+2T>G)	.	.	0.999871793741964	0.81
18	77477679	G	A	18	79717679	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.65163334906437E-5	0.06
18	77477679	G	C	18	79717679	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00210743286134067	0.122
18	77477679	G	T	18	79717679	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.73424932374787E-4	0.084
18	77477680	G	A	18	79717680	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.24935400429098E-4	0.054
18	77477680	G	C	18	79717680	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.53282884746E-5	0.006
18	77477680	G	T	18	79717680	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.02131922976137E-5	0.002
18	77477681	G	A	18	79717681	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999884128963363	0.928
18	77477681	G	C	18	79717681	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999976438345702	0.968
18	77477681	G	T	18	79717681	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999904348208586	0.916
18	77477682	T	A	18	79717682	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0327550581974814	0.354
18	77477682	T	C	18	79717682	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00172682044165802	0.088
18	77477682	T	G	18	79717682	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00660103180338107	0.276
18	77477683	C	A	18	79717683	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.6815803950322E-6	0.0
18	77477683	C	G	18	79717683	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.68483284253881E-5	0.002
18	77477683	C	T	18	79717683	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.41279920945617E-6	0.066
18	77477684	C	A	18	79717684	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.6612807958658E-4	0.004
18	77477684	C	G	18	79717684	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.13002785633408E-4	0.006
18	77477684	C	T	18	79717684	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.32111234284626E-4	0.0
18	77477798	T	A	18	79717798	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.33655778290745E-5	0.13
18	77477798	T	C	18	79717798	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.11698140205796E-5	0.008
18	77477798	T	G	18	79717798	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.00443115910059E-4	0.144
18	77477799	T	A	18	79717799	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00370793564387745	0.164
18	77477799	T	C	18	79717799	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.43745299202472E-5	0.022
18	77477799	T	G	18	79717799	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0020592194516433	0.112
18	77477800	C	A	18	79717800	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.74081534567752E-4	0.004
18	77477800	C	G	18	79717800	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.7900426149135E-5	0.002
18	77477800	C	T	18	79717800	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.50189971163244E-5	0.0
18	77477801	C	A	18	79717801	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.33123068874967E-5	0.016
18	77477801	C	G	18	79717801	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.26097333446883E-5	0.03
18	77477801	C	T	18	79717801	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.19551684620324E-5	0.0
18	77477802	T	A	18	79717802	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.26905495835928E-4	0.026
18	77477802	T	C	18	79717802	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.62193759522077E-5	0.0
18	77477802	T	G	18	79717802	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.53955346461905E-4	0.016
18	77477803	C	A	18	79717803	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00278303723543661	0.094
18	77477803	C	G	18	79717803	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00201917011763341	0.06
18	77477803	C	T	18	79717803	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.08977952839168E-5	0.004
18	77477804	C	A	18	79717804	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.998209642207325	0.95
18	77477804	C	G	18	79717804	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.77888109853078E-4	0.03
18	77477804	C	T	18	79717804	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.75447997189412E-5	0.0
18	77477805	G	A	18	79717805	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.40256444211326E-5	0.014
18	77477805	G	C	18	79717805	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.80190019730557E-6	0.0
18	77477805	G	T	18	79717805	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.25279927330413E-5	0.0
18	77477806	A	C	18	79717806	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.63090178865327E-5	0.002
18	77477806	A	G	18	79717806	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.25578401467508E-4	0.002
18	77477806	A	T	18	79717806	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.11706123065362E-4	0.01
18	77477807	C	A	18	79717807	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.990961611767079	0.634
18	77477807	C	G	18	79717807	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999630893635544	0.904
18	77477807	C	T	18	79717807	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00766103038699132	0.184
18	77477808	A	C	18	79717808	y	y	splicing	CTDP1(NM_048368:exon10:c.2211-2A>C;NM_004715:exon10:c.2211-2A>C;NM_001202504:exon10:c.1854-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2211-2A>C;ENST00000075430:exon10:c.2211-2A>C;ENST00000591598:exon10:c.2007-2A>C)	.	.	0.99997739437695	0.914
18	77477808	A	G	18	79717808	y	y	splicing	CTDP1(NM_048368:exon10:c.2211-2A>G;NM_004715:exon10:c.2211-2A>G;NM_001202504:exon10:c.1854-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2211-2A>G;ENST00000075430:exon10:c.2211-2A>G;ENST00000591598:exon10:c.2007-2A>G)	.	.	0.999970104448312	0.868
18	77477808	A	T	18	79717808	y	y	splicing	CTDP1(NM_048368:exon10:c.2211-2A>T;NM_004715:exon10:c.2211-2A>T;NM_001202504:exon10:c.1854-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2211-2A>T;ENST00000075430:exon10:c.2211-2A>T;ENST00000591598:exon10:c.2007-2A>T)	.	.	0.999978156327223	0.934
18	77477809	G	A	18	79717809	y	y	splicing	CTDP1(NM_048368:exon10:c.2211-1G>A;NM_004715:exon10:c.2211-1G>A;NM_001202504:exon10:c.1854-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2211-1G>A;ENST00000075430:exon10:c.2211-1G>A;ENST00000591598:exon10:c.2007-1G>A)	.	.	0.999938990645747	0.938
18	77477809	G	C	18	79717809	y	y	splicing	CTDP1(NM_048368:exon10:c.2211-1G>C;NM_004715:exon10:c.2211-1G>C;NM_001202504:exon10:c.1854-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2211-1G>C;ENST00000075430:exon10:c.2211-1G>C;ENST00000591598:exon10:c.2007-1G>C)	.	.	0.999960200702261	0.934
18	77477809	G	T	18	79717809	y	y	splicing	CTDP1(NM_048368:exon10:c.2211-1G>T;NM_004715:exon10:c.2211-1G>T;NM_001202504:exon10:c.1854-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2211-1G>T;ENST00000075430:exon10:c.2211-1G>T;ENST00000591598:exon10:c.2007-1G>T)	.	.	0.999960200702261	0.936
18	77477810	G	A	18	79717810	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon10:c.G2211A:p.R737R;CTDP1:NM_001202504:exon10:c.G1854A:p.R618R;CTDP1:NM_048368:exon10:c.G2211A:p.R737R;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.G2211A:p.R737R;ENSG00000060069:ENST00000075430:exon10:c.G2211A:p.R737R;ENSG00000060069:ENST00000591598:exon10:c.G2007A:p.R669R;	0.00191414839142576	0.142
18	77477810	G	C	18	79717810	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.G2211C:p.R737S;CTDP1:NM_001202504:exon10:c.G1854C:p.R618S;CTDP1:NM_048368:exon10:c.G2211C:p.R737S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.G2211C:p.R737S;ENSG00000060069:ENST00000075430:exon10:c.G2211C:p.R737S;ENSG00000060069:ENST00000591598:exon10:c.G2007C:p.R669S;	0.0423344051977831	0.476
18	77477810	G	T	18	79717810	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.G2211T:p.R737S;CTDP1:NM_001202504:exon10:c.G1854T:p.R618S;CTDP1:NM_048368:exon10:c.G2211T:p.R737S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.G2211T:p.R737S;ENSG00000060069:ENST00000075430:exon10:c.G2211T:p.R737S;ENSG00000060069:ENST00000591598:exon10:c.G2007T:p.R669S;	0.448438170283987	0.602
18	77477811	G	A	18	79717811	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.G2212A:p.E738K;CTDP1:NM_001202504:exon10:c.G1855A:p.E619K;CTDP1:NM_048368:exon10:c.G2212A:p.E738K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.G2212A:p.E738K;ENSG00000060069:ENST00000075430:exon10:c.G2212A:p.E738K;ENSG00000060069:ENST00000591598:exon10:c.G2008A:p.E670K;	0.0289144347997911	0.194
18	77477811	G	C	18	79717811	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.G2212C:p.E738Q;CTDP1:NM_001202504:exon10:c.G1855C:p.E619Q;CTDP1:NM_048368:exon10:c.G2212C:p.E738Q;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.G2212C:p.E738Q;ENSG00000060069:ENST00000075430:exon10:c.G2212C:p.E738Q;ENSG00000060069:ENST00000591598:exon10:c.G2008C:p.E670Q;	0.0102430410242526	0.058
18	77477811	G	T	18	79717811	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon10:c.G2212T:p.E738X;CTDP1:NM_001202504:exon10:c.G1855T:p.E619X;CTDP1:NM_048368:exon10:c.G2212T:p.E738X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon10:c.G2212T:p.E738X;ENSG00000060069:ENST00000075430:exon10:c.G2212T:p.E738X;ENSG00000060069:ENST00000591598:exon10:c.G2008T:p.E670X;	0.948456800794301	0.914
18	77478014	C	A	18	79718014	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.C2415A:p.F805L;CTDP1:NM_001202504:exon10:c.C2058A:p.F686L;CTDP1:NM_048368:exon10:c.C2415A:p.F805L;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.C2415A:p.F805L;ENSG00000060069:ENST00000075430:exon10:c.C2415A:p.F805L;ENSG00000060069:ENST00000591598:exon10:c.C2211A:p.F737L;	0.218964721471082	0.33
18	77478014	C	G	18	79718014	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.C2415G:p.F805L;CTDP1:NM_001202504:exon10:c.C2058G:p.F686L;CTDP1:NM_048368:exon10:c.C2415G:p.F805L;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.C2415G:p.F805L;ENSG00000060069:ENST00000075430:exon10:c.C2415G:p.F805L;ENSG00000060069:ENST00000591598:exon10:c.C2211G:p.F737L;	0.0428900159657054	0.216
18	77478014	C	T	18	79718014	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon10:c.C2415T:p.F805F;CTDP1:NM_001202504:exon10:c.C2058T:p.F686F;CTDP1:NM_048368:exon10:c.C2415T:p.F805F;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.C2415T:p.F805F;ENSG00000060069:ENST00000075430:exon10:c.C2415T:p.F805F;ENSG00000060069:ENST00000591598:exon10:c.C2211T:p.F737F;	0.462158250105107	0.488
18	77478015	A	C	18	79718015	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon10:c.A2416C:p.R806R;CTDP1:NM_001202504:exon10:c.A2059C:p.R687R;CTDP1:NM_048368:exon10:c.A2416C:p.R806R;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.A2416C:p.R806R;ENSG00000060069:ENST00000075430:exon10:c.A2416C:p.R806R;ENSG00000060069:ENST00000591598:exon10:c.A2212C:p.R738R;	0.569028836384344	0.628
18	77478015	A	G	18	79718015	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.A2416G:p.R806G;CTDP1:NM_001202504:exon10:c.A2059G:p.R687G;CTDP1:NM_048368:exon10:c.A2416G:p.R806G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.A2416G:p.R806G;ENSG00000060069:ENST00000075430:exon10:c.A2416G:p.R806G;ENSG00000060069:ENST00000591598:exon10:c.A2212G:p.R738G;	0.989869717773932	0.942
18	77478015	A	T	18	79718015	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon10:c.A2416T:p.R806X;CTDP1:NM_001202504:exon10:c.A2059T:p.R687X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon10:c.A2416T:p.R806X;ENSG00000060069:ENST00000591598:exon10:c.A2212T:p.R738X;	0.998259992649111	0.912
18	77478016	G	A	18	79718016	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.G2417A:p.R806K;CTDP1:NM_001202504:exon10:c.G2060A:p.R687K;CTDP1:NM_048368:exon10:c.G2417A:p.R806K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.G2417A:p.R806K;ENSG00000060069:ENST00000075430:exon10:c.G2417A:p.R806K;ENSG00000060069:ENST00000591598:exon10:c.G2213A:p.R738K;	0.999821892618362	0.972
18	77478016	G	C	18	79718016	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.G2417C:p.R806T;CTDP1:NM_001202504:exon10:c.G2060C:p.R687T;CTDP1:NM_048368:exon10:c.G2417C:p.R806T;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.G2417C:p.R806T;ENSG00000060069:ENST00000075430:exon10:c.G2417C:p.R806T;ENSG00000060069:ENST00000591598:exon10:c.G2213C:p.R738T;	0.999978384390792	0.966
18	77478016	G	T	18	79718016	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon10:c.G2417T:p.R806I;CTDP1:NM_001202504:exon10:c.G2060T:p.R687I;CTDP1:NM_048368:exon10:c.G2417T:p.R806M;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon10:c.G2417T:p.R806I;ENSG00000060069:ENST00000075430:exon10:c.G2417T:p.R806M;ENSG00000060069:ENST00000591598:exon10:c.G2213T:p.R738I;	0.999977937966785	0.946
18	77478017	G	A	18	79718017	y	y	splicing	CTDP1(NM_048368:exon10:c.2417+1G>A;NM_004715:exon10:c.2417+1G>A;NM_001202504:exon10:c.2060+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2417+1G>A;ENST00000075430:exon10:c.2417+1G>A;ENST00000591598:exon10:c.2213+1G>A)	.	.	0.999949102762976	0.936
18	77478017	G	C	18	79718017	y	y	splicing	CTDP1(NM_048368:exon10:c.2417+1G>C;NM_004715:exon10:c.2417+1G>C;NM_001202504:exon10:c.2060+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2417+1G>C;ENST00000075430:exon10:c.2417+1G>C;ENST00000591598:exon10:c.2213+1G>C)	.	.	0.999949572033895	0.934
18	77478017	G	T	18	79718017	y	y	splicing	CTDP1(NM_048368:exon10:c.2417+1G>T;NM_004715:exon10:c.2417+1G>T;NM_001202504:exon10:c.2060+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2417+1G>T;ENST00000075430:exon10:c.2417+1G>T;ENST00000591598:exon10:c.2213+1G>T)	.	.	0.999949102762976	0.934
18	77478018	T	A	18	79718018	y	y	splicing	CTDP1(NM_048368:exon10:c.2417+2T>A;NM_004715:exon10:c.2417+2T>A;NM_001202504:exon10:c.2060+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2417+2T>A;ENST00000075430:exon10:c.2417+2T>A;ENST00000591598:exon10:c.2213+2T>A)	.	.	0.999982175009191	0.924
18	77478018	T	C	18	79718018	y	y	splicing	CTDP1(NM_048368:exon10:c.2417+2T>C;NM_004715:exon10:c.2417+2T>C;NM_001202504:exon10:c.2060+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2417+2T>C;ENST00000075430:exon10:c.2417+2T>C;ENST00000591598:exon10:c.2213+2T>C)	.	.	0.97646896034785	0.63
18	77478018	T	G	18	79718018	y	y	splicing	CTDP1(NM_048368:exon10:c.2417+2T>G;NM_004715:exon10:c.2417+2T>G;NM_001202504:exon10:c.2060+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon10:c.2417+2T>G;ENST00000075430:exon10:c.2417+2T>G;ENST00000591598:exon10:c.2213+2T>G)	.	.	0.999967001206676	0.926
18	77478019	A	C	18	79718019	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.989697668418645	0.74
18	77478019	A	G	18	79718019	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.458705123201807	0.344
18	77478019	A	T	18	79718019	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.933380511705662	0.71
18	77478020	C	A	18	79718020	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.14232297025033E-5	0.042
18	77478020	C	G	18	79718020	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.02442006449224E-4	0.006
18	77478020	C	T	18	79718020	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.98868750807125E-5	0.004
18	77478021	G	A	18	79718021	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.350237726932461	0.284
18	77478021	G	C	18	79718021	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.400810903160472	0.338
18	77478021	G	T	18	79718021	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.152943254880001	0.236
18	77478022	T	A	18	79718022	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00253266141784304	0.108
18	77478022	T	C	18	79718022	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00374763507150055	0.23
18	77478022	T	G	18	79718022	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.92994660626501E-4	0.128
18	77478023	G	A	18	79718023	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.15665240196735E-5	0.0
18	77478023	G	C	18	79718023	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.15665240196735E-5	0.0
18	77478023	G	T	18	79718023	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.847159545715E-5	0.002
18	77478024	G	A	18	79718024	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.52155485145495E-5	0.0
18	77478024	G	C	18	79718024	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.52155485145495E-5	0.0
18	77478024	G	T	18	79718024	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.52155485145495E-5	0.0
18	77488895	A	C	18	79728895	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.60699315319317E-5	0.0
18	77488895	A	G	18	79728895	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999182635633016	0.982
18	77488895	A	T	18	79728895	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.2965467275719E-5	0.014
18	77488896	A	C	18	79728896	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.47081296677351E-4	0.0
18	77488896	A	G	18	79728896	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.997896300530343	0.98
18	77488896	A	T	18	79728896	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.4063501597659E-4	0.172
18	77488897	T	A	18	79728897	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.823301016548469	0.638
18	77488897	T	C	18	79728897	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00271739663083748	0.134
18	77488897	T	G	18	79728897	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999921847678859	0.988
18	77488898	T	A	18	79728898	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.915565272709665	0.77
18	77488898	T	C	18	79728898	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0405179242428834	0.138
18	77488898	T	G	18	79728898	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.76363447988605	0.624
18	77488899	C	A	18	79728899	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00183913593601752	0.146
18	77488899	C	G	18	79728899	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.88639451536897E-4	0.11
18	77488899	C	T	18	79728899	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	9.08065088485794E-5	0.04
18	77488900	C	A	18	79728900	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.45302556720267E-4	0.03
18	77488900	C	G	18	79728900	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.20395064497234E-4	0.064
18	77488900	C	T	18	79728900	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.07644340746751E-5	0.02
18	77488901	T	A	18	79728901	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.610872789206853	0.504
18	77488901	T	C	18	79728901	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.88015680548709E-4	0.06
18	77488901	T	G	18	79728901	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.921260417062997	0.61
18	77488902	T	A	18	79728902	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.884537033548461	0.59
18	77488902	T	C	18	79728902	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0340536751594064	0.218
18	77488902	T	G	18	79728902	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.943692346908823	0.616
18	77488903	T	A	18	79728903	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.23911516129631E-5	0.0
18	77488903	T	C	18	79728903	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.98654773687568E-5	0.0
18	77488903	T	G	18	79728903	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.2179668433173E-4	0.034
18	77488904	C	A	18	79728904	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.996428498909282	0.866
18	77488904	C	G	18	79728904	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999914227446901	0.688
18	77488904	C	T	18	79728904	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0257021291782984	0.242
18	77488905	A	C	18	79728905	y	y	splicing	CTDP1(NM_004715:exon11:c.2418-2A>C;NM_001202504:exon11:c.2061-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2418-2A>C;ENST00000591598:exon11:c.2214-2A>C)	.	.	0.999982151912279	0.908
18	77488905	A	G	18	79728905	y	y	splicing	CTDP1(NM_004715:exon11:c.2418-2A>G;NM_001202504:exon11:c.2061-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2418-2A>G;ENST00000591598:exon11:c.2214-2A>G)	.	.	0.999982151912279	0.908
18	77488905	A	T	18	79728905	y	y	splicing	CTDP1(NM_004715:exon11:c.2418-2A>T;NM_001202504:exon11:c.2061-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2418-2A>T;ENST00000591598:exon11:c.2214-2A>T)	.	.	0.999970104448312	0.91
18	77488906	G	A	18	79728906	y	y	splicing	CTDP1(NM_004715:exon11:c.2418-1G>A;NM_001202504:exon11:c.2061-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2418-1G>A;ENST00000591598:exon11:c.2214-1G>A)	.	.	0.999945530492988	0.914
18	77488906	G	C	18	79728906	y	y	splicing	CTDP1(NM_004715:exon11:c.2418-1G>C;NM_001202504:exon11:c.2061-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2418-1G>C;ENST00000591598:exon11:c.2214-1G>C)	.	.	0.99996748057446	0.92
18	77488906	G	T	18	79728906	y	y	splicing	CTDP1(NM_004715:exon11:c.2418-1G>T;NM_001202504:exon11:c.2061-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2418-1G>T;ENST00000591598:exon11:c.2214-1G>T)	.	.	0.99996748057446	0.92
18	77488907	A	C	18	79728907	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.A2418C:p.R806S;CTDP1:NM_001202504:exon11:c.A2061C:p.R687S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.A2418C:p.R806S;ENSG00000060069:ENST00000591598:exon11:c.A2214C:p.R738S;	0.532657146759391	0.474
18	77488907	A	G	18	79728907	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon11:c.A2418G:p.R806R;CTDP1:NM_001202504:exon11:c.A2061G:p.R687R;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.A2418G:p.R806R;ENSG00000060069:ENST00000591598:exon11:c.A2214G:p.R738R;	7.43413812754199E-4	0.022
18	77488907	A	T	18	79728907	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.A2418T:p.R806S;CTDP1:NM_001202504:exon11:c.A2061T:p.R687S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.A2418T:p.R806S;ENSG00000060069:ENST00000591598:exon11:c.A2214T:p.R738S;	0.574963317611706	0.522
18	77488908	G	A	18	79728908	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.G2419A:p.A807T;CTDP1:NM_001202504:exon11:c.G2062A:p.A688T;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.G2419A:p.A807T;ENSG00000060069:ENST00000591598:exon11:c.G2215A:p.A739T;	6.18616929891738E-4	0.132
18	77488908	G	C	18	79728908	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.G2419C:p.A807P;CTDP1:NM_001202504:exon11:c.G2062C:p.A688P;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.G2419C:p.A807P;ENSG00000060069:ENST00000591598:exon11:c.G2215C:p.A739P;	8.68054100526188E-4	0.086
18	77488908	G	T	18	79728908	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.G2419T:p.A807S;CTDP1:NM_001202504:exon11:c.G2062T:p.A688S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.G2419T:p.A807S;ENSG00000060069:ENST00000591598:exon11:c.G2215T:p.A739S;	2.56583929868109E-4	0.056
18	77489067	G	A	18	79729067	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.G2578A:p.E860K;CTDP1:NM_001202504:exon11:c.G2221A:p.E741K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.G2578A:p.E860K;ENSG00000060069:ENST00000591598:exon11:c.G2374A:p.E792K;	0.943035262460431	0.834
18	77489067	G	C	18	79729067	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.G2578C:p.E860Q;CTDP1:NM_001202504:exon11:c.G2221C:p.E741Q;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.G2578C:p.E860Q;ENSG00000060069:ENST00000591598:exon11:c.G2374C:p.E792Q;	0.943035262460431	0.796
18	77489067	G	T	18	79729067	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon11:c.G2578T:p.E860X;CTDP1:NM_001202504:exon11:c.G2221T:p.E741X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon11:c.G2578T:p.E860X;ENSG00000060069:ENST00000591598:exon11:c.G2374T:p.E792X;	0.971031702911358	0.884
18	77489068	A	C	18	79729068	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.A2579C:p.E860A;CTDP1:NM_001202504:exon11:c.A2222C:p.E741A;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.A2579C:p.E860A;ENSG00000060069:ENST00000591598:exon11:c.A2375C:p.E792A;	0.99320973808814	0.942
18	77489068	A	G	18	79729068	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.A2579G:p.E860G;CTDP1:NM_001202504:exon11:c.A2222G:p.E741G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.A2579G:p.E860G;ENSG00000060069:ENST00000591598:exon11:c.A2375G:p.E792G;	0.999673779160297	0.976
18	77489068	A	T	18	79729068	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.A2579T:p.E860V;CTDP1:NM_001202504:exon11:c.A2222T:p.E741V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.A2579T:p.E860V;ENSG00000060069:ENST00000591598:exon11:c.A2375T:p.E792V;	0.997140697712914	0.938
18	77489069	G	A	18	79729069	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon11:c.G2580A:p.E860E;CTDP1:NM_001202504:exon11:c.G2223A:p.E741E;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.G2580A:p.E860E;ENSG00000060069:ENST00000591598:exon11:c.G2376A:p.E792E;	0.999556954304871	0.946
18	77489069	G	C	18	79729069	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.G2580C:p.E860D;CTDP1:NM_001202504:exon11:c.G2223C:p.E741D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.G2580C:p.E860D;ENSG00000060069:ENST00000591598:exon11:c.G2376C:p.E792D;	0.999988203565934	0.862
18	77489069	G	T	18	79729069	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon11:c.G2580T:p.E860D;CTDP1:NM_001202504:exon11:c.G2223T:p.E741D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon11:c.G2580T:p.E860D;ENSG00000060069:ENST00000591598:exon11:c.G2376T:p.E792D;	0.999630773795498	0.892
18	77489070	G	A	18	79729070	y	y	splicing	CTDP1(NM_004715:exon11:c.2580+1G>A;NM_001202504:exon11:c.2223+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2580+1G>A;ENST00000591598:exon11:c.2376+1G>A)	.	.	0.999981760802075	0.944
18	77489070	G	C	18	79729070	y	y	splicing	CTDP1(NM_004715:exon11:c.2580+1G>C;NM_001202504:exon11:c.2223+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2580+1G>C;ENST00000591598:exon11:c.2376+1G>C)	.	.	0.999981760802075	0.944
18	77489070	G	T	18	79729070	y	y	splicing	CTDP1(NM_004715:exon11:c.2580+1G>T;NM_001202504:exon11:c.2223+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2580+1G>T;ENST00000591598:exon11:c.2376+1G>T)	.	.	0.999981760802075	0.944
18	77489071	T	A	18	79729071	y	y	splicing	CTDP1(NM_004715:exon11:c.2580+2T>A;NM_001202504:exon11:c.2223+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2580+2T>A;ENST00000591598:exon11:c.2376+2T>A)	.	.	0.999989917668626	0.928
18	77489071	T	C	18	79729071	y	y	splicing	CTDP1(NM_004715:exon11:c.2580+2T>C;NM_001202504:exon11:c.2223+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2580+2T>C;ENST00000591598:exon11:c.2376+2T>C)	.	.	0.999939711763648	0.864
18	77489071	T	G	18	79729071	y	y	splicing	CTDP1(NM_004715:exon11:c.2580+2T>G;NM_001202504:exon11:c.2223+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon11:c.2580+2T>G;ENST00000591598:exon11:c.2376+2T>G)	.	.	0.999989917668626	0.928
18	77489072	G	A	18	79729072	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.149456312718024	0.278
18	77489072	G	C	18	79729072	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999153611396874	0.882
18	77489072	G	T	18	79729072	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.99930412162773	0.828
18	77489073	A	C	18	79729073	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.996991772160558	0.87
18	77489073	A	G	18	79729073	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.997429912366894	0.902
18	77489073	A	T	18	79729073	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.99673656571755	0.876
18	77489074	G	A	18	79729074	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999075841520869	0.974
18	77489074	G	C	18	79729074	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999720218902982	0.946
18	77489074	G	T	18	79729074	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.997332526406995	0.928
18	77489075	C	A	18	79729075	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.00815465110196E-4	0.032
18	77489075	C	G	18	79729075	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.72846694805809E-4	0.042
18	77489075	C	T	18	79729075	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.52762312134748E-5	0.004
18	77489076	C	A	18	79729076	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.85936619449865E-4	0.0
18	77489076	C	G	18	79729076	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.44992225970152E-4	0.018
18	77489076	C	T	18	79729076	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.69581745139832E-4	0.002
18	77489077	A	C	18	79729077	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.30477579161392E-5	0.0
18	77489077	A	G	18	79729077	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.73659410988803E-5	0.0
18	77489077	A	T	18	79729077	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.73659410988803E-5	0.0
18	77496343	G	A	18	79736343	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00129881959081851	0.16
18	77496343	G	C	18	79736343	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.77550828064994E-5	0.012
18	77496343	G	T	18	79736343	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.07619800737243E-4	0.016
18	77496344	C	A	18	79736344	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00420981815934139	0.068
18	77496344	C	G	18	79736344	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00227985249001694	0.072
18	77496344	C	T	18	79736344	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.33813898779661E-4	0.0
18	77496345	T	A	18	79736345	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.998518448796005	0.884
18	77496345	T	C	18	79736345	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.82817536529832E-5	0.018
18	77496345	T	G	18	79736345	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00486814883956575	0.162
18	77496346	G	A	18	79736346	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.87720110635361E-4	0.034
18	77496346	G	C	18	79736346	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.01285627262415E-5	0.0
18	77496346	G	T	18	79736346	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.26282657477284E-5	0.004
18	77496347	T	A	18	79736347	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0577535399446967	0.26
18	77496347	T	C	18	79736347	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.44327268640106E-6	0.0
18	77496347	T	G	18	79736347	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00322335816086329	0.076
18	77496348	T	A	18	79736348	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0358798305073574	0.104
18	77496348	T	C	18	79736348	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.19353510431419E-4	0.048
18	77496348	T	G	18	79736348	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00542345226023368	0.088
18	77496349	T	A	18	79736349	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999973875934494	0.956
18	77496349	T	C	18	79736349	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00184379175870146	0.048
18	77496349	T	G	18	79736349	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.891167391915686	0.654
18	77496350	G	A	18	79736350	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.25020652744648E-5	0.0
18	77496350	G	C	18	79736350	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.04977802816681E-4	0.0
18	77496350	G	T	18	79736350	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.04750799185399E-4	0.02
18	77496351	T	A	18	79736351	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.57030523958227E-5	0.002
18	77496351	T	C	18	79736351	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.62412784698457E-5	0.0
18	77496351	T	G	18	79736351	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.86124589982029E-5	0.0
18	77496352	C	A	18	79736352	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.978861103724874	0.81
18	77496352	C	G	18	79736352	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999915585884272	0.914
18	77496352	C	T	18	79736352	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0033202663131733	0.09
18	77496353	A	C	18	79736353	y	y	splicing	CTDP1(NM_048368:exon11:c.2418-2A>C;NM_004715:exon12:c.2581-2A>C;NM_001202504:exon12:c.2224-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2581-2A>C;ENST00000075430:exon11:c.2418-2A>C)	.	.	0.999967305459904	0.958
18	77496353	A	G	18	79736353	y	y	splicing	CTDP1(NM_048368:exon11:c.2418-2A>G;NM_004715:exon12:c.2581-2A>G;NM_001202504:exon12:c.2224-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2581-2A>G;ENST00000075430:exon11:c.2418-2A>G)	.	.	0.999967305459904	0.958
18	77496353	A	T	18	79736353	y	y	splicing	CTDP1(NM_048368:exon11:c.2418-2A>T;NM_004715:exon12:c.2581-2A>T;NM_001202504:exon12:c.2224-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2581-2A>T;ENST00000075430:exon11:c.2418-2A>T)	.	.	0.999967305459904	0.962
18	77496354	G	A	18	79736354	y	y	splicing	CTDP1(NM_048368:exon11:c.2418-1G>A;NM_004715:exon12:c.2581-1G>A;NM_001202504:exon12:c.2224-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2581-1G>A;ENST00000075430:exon11:c.2418-1G>A)	.	.	0.999961682427198	0.966
18	77496354	G	C	18	79736354	y	y	splicing	CTDP1(NM_048368:exon11:c.2418-1G>C;NM_004715:exon12:c.2581-1G>C;NM_001202504:exon12:c.2224-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2581-1G>C;ENST00000075430:exon11:c.2418-1G>C)	.	.	0.999962035718413	0.966
18	77496354	G	T	18	79736354	y	y	splicing	CTDP1(NM_048368:exon11:c.2418-1G>T;NM_004715:exon12:c.2581-1G>T;NM_001202504:exon12:c.2224-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2581-1G>T;ENST00000075430:exon11:c.2418-1G>T)	.	.	0.999962035718413	0.966
18	77496355	G	A	18	79736355	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.G2581A:p.V861M;CTDP1:NM_001202504:exon12:c.G2224A:p.V742M;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.G2581A:p.V861M;	0.981990627847142	0.79
18	77496355	G	C	18	79736355	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.G2581C:p.V861L;CTDP1:NM_001202504:exon12:c.G2224C:p.V742L;CTDP1:NM_048368:exon11:c.G2418C:p.R806S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.G2581C:p.V861L;ENSG00000060069:ENST00000075430:exon11:c.G2418C:p.R806S;	0.99975524515648	0.984
18	77496355	G	T	18	79736355	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.G2581T:p.V861L;CTDP1:NM_001202504:exon12:c.G2224T:p.V742L;CTDP1:NM_048368:exon11:c.G2418T:p.R806S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.G2581T:p.V861L;ENSG00000060069:ENST00000075430:exon11:c.G2418T:p.R806S;	0.999605119167579	0.988
18	77496356	T	A	18	79736356	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.T2582A:p.V861E;CTDP1:NM_001202504:exon12:c.T2225A:p.V742E;CTDP1:NM_048368:exon11:c.T2419A:p.W807R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.T2582A:p.V861E;ENSG00000060069:ENST00000075430:exon11:c.T2419A:p.W807R;	0.0209349583452297	0.132
18	77496356	T	C	18	79736356	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.T2582C:p.V861A;CTDP1:NM_001202504:exon12:c.T2225C:p.V742A;CTDP1:NM_048368:exon11:c.T2419C:p.W807R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.T2582C:p.V861A;ENSG00000060069:ENST00000075430:exon11:c.T2419C:p.W807R;	0.0657080069291055	0.122
18	77496356	T	G	18	79736356	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.T2582G:p.V861G;CTDP1:NM_001202504:exon12:c.T2225G:p.V742G;CTDP1:NM_048368:exon11:c.T2419G:p.W807G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.T2582G:p.V861G;ENSG00000060069:ENST00000075430:exon11:c.T2419G:p.W807G;	0.0320156722039687	0.104
18	77496519	C	A	18	79736519	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_048368:exon11:c.C2582A:p.P861Q;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000075430:exon11:c.C2582A:p.P861Q;	0.00360983029506576	0.066
18	77496519	C	G	18	79736519	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_048368:exon11:c.C2582G:p.P861R;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000075430:exon11:c.C2582G:p.P861R;	0.0013938001916485	0.038
18	77496519	C	T	18	79736519	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_048368:exon11:c.C2582T:p.P861L;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000075430:exon11:c.C2582T:p.P861L;	0.361814647485396	0.292
18	77496520	A	C	18	79736520	y	y	exonic	CTDP1	synonymous SNV	CTDP1:NM_004715:exon12:c.A2746C:p.R916R;CTDP1:NM_001202504:exon12:c.A2389C:p.R797R;CTDP1:NM_048368:exon11:c.A2583C:p.P861P;	exonic	ENSG00000060069	synonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.A2746C:p.R916R;ENSG00000060069:ENST00000075430:exon11:c.A2583C:p.P861P;	0.124006191498006	0.402
18	77496520	A	G	18	79736520	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.A2746G:p.R916G;CTDP1:NM_001202504:exon12:c.A2389G:p.R797G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.A2746G:p.R916G;	0.582236943179219	0.592
18	77496520	A	T	18	79736520	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_004715:exon12:c.A2746T:p.R916X;CTDP1:NM_001202504:exon12:c.A2389T:p.R797X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000299543:exon12:c.A2746T:p.R916X;	0.973260955689738	0.734
18	77496521	G	A	18	79736521	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.G2747A:p.R916K;CTDP1:NM_001202504:exon12:c.G2390A:p.R797K;CTDP1:NM_048368:exon11:c.G2584A:p.E862K;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.G2747A:p.R916K;ENSG00000060069:ENST00000075430:exon11:c.G2584A:p.E862K;	0.387491767732534	0.47
18	77496521	G	C	18	79736521	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon12:c.G2747C:p.R916T;CTDP1:NM_001202504:exon12:c.G2390C:p.R797T;CTDP1:NM_048368:exon11:c.G2584C:p.E862Q;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon12:c.G2747C:p.R916T;ENSG00000060069:ENST00000075430:exon11:c.G2584C:p.E862Q;	0.92265661161929	0.53
18	77496521	G	T	18	79736521	y	y	exonic	CTDP1	stopgain SNV	CTDP1:NM_048368:exon11:c.G2584T:p.E862X;	exonic	ENSG00000060069	stopgain SNV	ENSG00000060069:ENST00000075430:exon11:c.G2584T:p.E862X;	0.997124046413941	0.832
18	77496522	G	A	18	79736522	y	y	splicing	CTDP1(NM_048368:exon11:c.2584+1G>A;NM_004715:exon12:c.2747+1G>A;NM_001202504:exon12:c.2390+1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2747+1G>A;ENST00000075430:exon11:c.2584+1G>A)	.	.	0.999975234295479	0.938
18	77496522	G	C	18	79736522	y	y	splicing	CTDP1(NM_048368:exon11:c.2584+1G>C;NM_004715:exon12:c.2747+1G>C;NM_001202504:exon12:c.2390+1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2747+1G>C;ENST00000075430:exon11:c.2584+1G>C)	.	.	0.999975234295479	0.934
18	77496522	G	T	18	79736522	y	y	splicing	CTDP1(NM_048368:exon11:c.2584+1G>T;NM_004715:exon12:c.2747+1G>T;NM_001202504:exon12:c.2390+1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2747+1G>T;ENST00000075430:exon11:c.2584+1G>T)	.	.	0.999975234295479	0.936
18	77496523	T	A	18	79736523	y	y	splicing	CTDP1(NM_048368:exon11:c.2584+2T>A;NM_004715:exon12:c.2747+2T>A;NM_001202504:exon12:c.2390+2T>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2747+2T>A;ENST00000075430:exon11:c.2584+2T>A)	.	.	0.999978672009528	0.936
18	77496523	T	C	18	79736523	y	y	splicing	CTDP1(NM_048368:exon11:c.2584+2T>C;NM_004715:exon12:c.2747+2T>C;NM_001202504:exon12:c.2390+2T>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2747+2T>C;ENST00000075430:exon11:c.2584+2T>C)	.	.	0.999889408471706	0.872
18	77496523	T	G	18	79736523	y	y	splicing	CTDP1(NM_048368:exon11:c.2584+2T>G;NM_004715:exon12:c.2747+2T>G;NM_001202504:exon12:c.2390+2T>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon12:c.2747+2T>G;ENST00000075430:exon11:c.2584+2T>G)	.	.	0.999978672009528	0.932
18	77496524	G	A	18	79736524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.29203489347423E-5	0.0
18	77496524	G	C	18	79736524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00547760104729769	0.228
18	77496524	G	T	18	79736524	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00570646637599862	0.266
18	77496525	A	C	18	79736525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.623182712104147	0.502
18	77496525	A	G	18	79736525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.686300248469342	0.416
18	77496525	A	T	18	79736525	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.900500654661994	0.554
18	77496526	G	A	18	79736526	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.991568661818917	0.828
18	77496526	G	C	18	79736526	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.995462617814439	0.808
18	77496526	G	T	18	79736526	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.99869405388918	0.828
18	77496527	T	A	18	79736527	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.95516121812252E-4	0.05
18	77496527	T	C	18	79736527	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.24248637200149E-4	0.07
18	77496527	T	G	18	79736527	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.58471945978176E-4	0.02
18	77496528	G	A	18	79736528	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.18848171849392E-5	0.0
18	77496528	G	C	18	79736528	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.70659417257392E-6	0.0
18	77496528	G	T	18	79736528	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.58927937202005E-5	0.0
18	77496529	C	A	18	79736529	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.05714549836922E-5	0.014
18	77496529	C	G	18	79736529	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.55312683788388E-6	0.0
18	77496529	C	T	18	79736529	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.05714549836922E-5	0.002
18	77513640	G	A	18	79753640	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.48803754285767E-4	0.002
18	77513640	G	C	18	79753640	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.21063910605724E-5	0.0
18	77513640	G	T	18	79753640	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.91767797299984E-5	0.004
18	77513641	C	A	18	79753641	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.37761649506444E-4	0.046
18	77513641	C	G	18	79753641	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.03308271795302E-4	0.036
18	77513641	C	T	18	79753641	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	7.93231643330278E-5	0.06
18	77513642	T	A	18	79753642	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00170235973020344	0.202
18	77513642	T	C	18	79753642	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	5.66271344106276E-5	0.01
18	77513642	T	G	18	79753642	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.92652927924013E-4	0.252
18	77513643	T	A	18	79753643	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00483693936039164	0.13
18	77513643	T	C	18	79753643	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	4.14555991228815E-4	0.008
18	77513643	T	G	18	79753643	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00764883369027099	0.162
18	77513644	C	A	18	79753644	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00140477941216565	0.062
18	77513644	C	G	18	79753644	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00307157546150414	0.03
18	77513644	C	T	18	79753644	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	8.51593958153293E-5	0.0
18	77513645	T	A	18	79753645	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00853140754284933	0.112
18	77513645	T	C	18	79753645	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.33889714036635E-4	0.002
18	77513645	T	G	18	79753645	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0145027760927898	0.204
18	77513646	C	A	18	79753646	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.00365790302591756	0.102
18	77513646	C	G	18	79753646	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0013525924433602	0.058
18	77513646	C	T	18	79753646	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	3.27945733126737E-5	0.002
18	77513647	T	A	18	79753647	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.999781288894617	0.83
18	77513647	T	C	18	79753647	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	1.81211170301474E-4	0.014
18	77513647	T	G	18	79753647	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0695780568045587	0.272
18	77513648	G	A	18	79753648	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.64728050558822E-5	0.002
18	77513648	G	C	18	79753648	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	6.64874478015466E-6	0.0
18	77513648	G	T	18	79753648	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	2.1800282028926E-5	0.01
18	77513649	C	A	18	79753649	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.989867546297021	0.552
18	77513649	C	G	18	79753649	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.9998762228141	0.976
18	77513649	C	T	18	79753649	y	y	intronic	CTDP1	.	.	intronic	ENSG00000060069	.	.	0.0010570692841886	0.068
18	77513650	A	C	18	79753650	y	y	splicing	CTDP1(NM_048368:exon12:c.2585-2A>C;NM_004715:exon13:c.2748-2A>C;NM_001202504:exon13:c.2391-2A>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon13:c.2748-2A>C;ENST00000075430:exon12:c.2585-2A>C;ENST00000591598:exon12:c.2377-2A>C)	.	.	0.999988247793601	0.926
18	77513650	A	G	18	79753650	y	y	splicing	CTDP1(NM_048368:exon12:c.2585-2A>G;NM_004715:exon13:c.2748-2A>G;NM_001202504:exon13:c.2391-2A>G)	.	.	splicing	ENSG00000060069(ENST00000299543:exon13:c.2748-2A>G;ENST00000075430:exon12:c.2585-2A>G;ENST00000591598:exon12:c.2377-2A>G)	.	.	0.999988247793601	0.926
18	77513650	A	T	18	79753650	y	y	splicing	CTDP1(NM_048368:exon12:c.2585-2A>T;NM_004715:exon13:c.2748-2A>T;NM_001202504:exon13:c.2391-2A>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon13:c.2748-2A>T;ENST00000075430:exon12:c.2585-2A>T;ENST00000591598:exon12:c.2377-2A>T)	.	.	0.999988247793601	0.926
18	77513651	G	A	18	79753651	y	y	splicing	CTDP1(NM_048368:exon12:c.2585-1G>A;NM_004715:exon13:c.2748-1G>A;NM_001202504:exon13:c.2391-1G>A)	.	.	splicing	ENSG00000060069(ENST00000299543:exon13:c.2748-1G>A;ENST00000075430:exon12:c.2585-1G>A;ENST00000591598:exon12:c.2377-1G>A)	.	.	0.999985532734767	0.938
18	77513651	G	C	18	79753651	y	y	splicing	CTDP1(NM_048368:exon12:c.2585-1G>C;NM_004715:exon13:c.2748-1G>C;NM_001202504:exon13:c.2391-1G>C)	.	.	splicing	ENSG00000060069(ENST00000299543:exon13:c.2748-1G>C;ENST00000075430:exon12:c.2585-1G>C;ENST00000591598:exon12:c.2377-1G>C)	.	.	0.999985532734767	0.938
18	77513651	G	T	18	79753651	y	y	splicing	CTDP1(NM_048368:exon12:c.2585-1G>T;NM_004715:exon13:c.2748-1G>T;NM_001202504:exon13:c.2391-1G>T)	.	.	splicing	ENSG00000060069(ENST00000299543:exon13:c.2748-1G>T;ENST00000075430:exon12:c.2585-1G>T;ENST00000591598:exon12:c.2377-1G>T)	.	.	0.999985532734767	0.938
18	77513652	A	C	18	79753652	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon13:c.A2748C:p.R916S;CTDP1:NM_001202504:exon13:c.A2391C:p.R797S;CTDP1:NM_048368:exon12:c.A2585C:p.E862A;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon13:c.A2748C:p.R916S;ENSG00000060069:ENST00000075430:exon12:c.A2585C:p.E862A;	1.07510276867352E-4	0.022
18	77513652	A	G	18	79753652	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_048368:exon12:c.A2585G:p.E862G;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000075430:exon12:c.A2585G:p.E862G;ENSG00000060069:ENST00000591598:exon12:c.A2377G:p.R793G;	2.50378476327718E-5	0.004
18	77513652	A	T	18	79753652	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon13:c.A2748T:p.R916S;CTDP1:NM_001202504:exon13:c.A2391T:p.R797S;CTDP1:NM_048368:exon12:c.A2585T:p.E862V;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon13:c.A2748T:p.R916S;ENSG00000060069:ENST00000075430:exon12:c.A2585T:p.E862V;ENSG00000060069:ENST00000591598:exon12:c.A2377T:p.R793W;	2.762000140174E-4	0.016
18	77513653	G	A	18	79753653	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon13:c.G2749A:p.G917S;CTDP1:NM_001202504:exon13:c.G2392A:p.G798S;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon13:c.G2749A:p.G917S;ENSG00000060069:ENST00000591598:exon12:c.G2378A:p.R793K;	0.97822261661984	0.898
18	77513653	G	C	18	79753653	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon13:c.G2749C:p.G917R;CTDP1:NM_001202504:exon13:c.G2392C:p.G798R;CTDP1:NM_048368:exon12:c.G2586C:p.E862D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon13:c.G2749C:p.G917R;ENSG00000060069:ENST00000075430:exon12:c.G2586C:p.E862D;ENSG00000060069:ENST00000591598:exon12:c.G2378C:p.R793T;	0.968573532282723	0.784
18	77513653	G	T	18	79753653	y	y	exonic	CTDP1	nonsynonymous SNV	CTDP1:NM_004715:exon13:c.G2749T:p.G917C;CTDP1:NM_001202504:exon13:c.G2392T:p.G798C;CTDP1:NM_048368:exon12:c.G2586T:p.E862D;	exonic	ENSG00000060069	nonsynonymous SNV	ENSG00000060069:ENST00000299543:exon13:c.G2749T:p.G917C;ENSG00000060069:ENST00000075430:exon12:c.G2586T:p.E862D;ENSG00000060069:ENST00000591598:exon12:c.G2378T:p.R793M;	0.971491703293529	0.782
18	77624289	C	A	18	79864289	y	y	exonic	KCNG2	synonymous SNV	KCNG2:NM_012283:exon1:c.C622A:p.R208R;	exonic	ENSG00000178342	synonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.C622A:p.R208R;	5.98109125528912E-4	0.044
18	77624289	C	G	18	79864289	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon1:c.C622G:p.R208G;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.C622G:p.R208G;	0.0239259204179445	0.1
18	77624289	C	T	18	79864289	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon1:c.C622T:p.R208W;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.C622T:p.R208W;	0.0177589783954404	0.116
18	77624290	G	A	18	79864290	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon1:c.G623A:p.R208Q;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.G623A:p.R208Q;	3.44892764302901E-4	0.132
18	77624290	G	C	18	79864290	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon1:c.G623C:p.R208P;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.G623C:p.R208P;	2.09731571145983E-4	0.006
18	77624290	G	T	18	79864290	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon1:c.G623T:p.R208L;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.G623T:p.R208L;	3.65716081104598E-4	0.004
18	77624291	G	A	18	79864291	y	y	exonic	KCNG2	synonymous SNV	KCNG2:NM_012283:exon1:c.G624A:p.R208R;	exonic	ENSG00000178342	synonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.G624A:p.R208R;	0.999184554667287	0.962
18	77624291	G	C	18	79864291	y	y	exonic	KCNG2	synonymous SNV	KCNG2:NM_012283:exon1:c.G624C:p.R208R;	exonic	ENSG00000178342	synonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.G624C:p.R208R;	0.999977696677223	0.968
18	77624291	G	T	18	79864291	y	y	exonic	KCNG2	synonymous SNV	KCNG2:NM_012283:exon1:c.G624T:p.R208R;	exonic	ENSG00000178342	synonymous SNV	ENSG00000178342:ENST00000316249:exon1:c.G624T:p.R208R;	0.999900934322216	0.962
18	77624292	G	A	18	79864292	y	y	splicing	KCNG2(NM_012283:exon1:c.624+1G>A)	.	.	splicing	ENSG00000178342(ENST00000316249:exon1:c.624+1G>A)	.	.	0.999985973850103	0.914
18	77624292	G	C	18	79864292	y	y	splicing	KCNG2(NM_012283:exon1:c.624+1G>C)	.	.	splicing	ENSG00000178342(ENST00000316249:exon1:c.624+1G>C)	.	.	0.999978680481481	0.91
18	77624292	G	T	18	79864292	y	y	splicing	KCNG2(NM_012283:exon1:c.624+1G>T)	.	.	splicing	ENSG00000178342(ENST00000316249:exon1:c.624+1G>T)	.	.	0.999985973850103	0.914
18	77624293	T	A	18	79864293	y	y	splicing	KCNG2(NM_012283:exon1:c.624+2T>A)	.	.	splicing	ENSG00000178342(ENST00000316249:exon1:c.624+2T>A)	.	.	0.999988785990237	0.906
18	77624293	T	C	18	79864293	y	y	splicing	KCNG2(NM_012283:exon1:c.624+2T>C)	.	.	splicing	ENSG00000178342(ENST00000316249:exon1:c.624+2T>C)	.	.	0.999987025525786	0.908
18	77624293	T	G	18	79864293	y	y	splicing	KCNG2(NM_012283:exon1:c.624+2T>G)	.	.	splicing	ENSG00000178342(ENST00000316249:exon1:c.624+2T>G)	.	.	0.999988489923977	0.886
18	77624294	G	A	18	79864294	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	4.16401692457836E-5	0.004
18	77624294	G	C	18	79864294	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.51966093208074	0.564
18	77624294	G	T	18	79864294	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.991984513573642	0.594
18	77624295	A	C	18	79864295	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.576383523369419	0.468
18	77624295	A	G	18	79864295	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.971982962190749	0.776
18	77624295	A	T	18	79864295	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.979177526904126	0.778
18	77624296	G	A	18	79864296	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.999431880836234	0.866
18	77624296	G	C	18	79864296	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.99522933689435	0.882
18	77624296	G	T	18	79864296	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.998959842019735	0.864
18	77624297	C	A	18	79864297	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	5.86884302825273E-4	0.032
18	77624297	C	G	18	79864297	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	1.11913975207055E-4	0.076
18	77624297	C	T	18	79864297	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	6.13055622037723E-6	0.06
18	77624298	G	A	18	79864298	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	3.12650773005937E-5	0.0
18	77624298	G	C	18	79864298	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	3.07256548728156E-5	0.0
18	77624298	G	T	18	79864298	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	4.27107018102129E-4	0.024
18	77624299	C	A	18	79864299	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	4.68729922850447E-4	0.018
18	77624299	C	G	18	79864299	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	5.57429507439968E-4	0.026
18	77624299	C	T	18	79864299	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	6.37867695234255E-4	0.038
18	77659028	C	A	18	79899028	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	9.64718095437154E-5	0.004
18	77659028	C	G	18	79899028	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	1.5229844275475E-4	0.002
18	77659028	C	T	18	79899028	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	1.03597699298864E-4	0.0
18	77659029	T	A	18	79899029	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.00183096111112135	0.122
18	77659029	T	C	18	79899029	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	2.22694098360443E-4	0.016
18	77659029	T	G	18	79899029	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	5.19818915479876E-4	0.116
18	77659030	C	A	18	79899030	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	1.97315971043949E-4	0.022
18	77659030	C	G	18	79899030	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	4.8702523823274E-5	0.008
18	77659030	C	T	18	79899030	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	2.58942895281879E-5	0.0
18	77659031	T	A	18	79899031	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.00208384450327465	0.24
18	77659031	T	C	18	79899031	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	6.75277108489527E-4	0.134
18	77659031	T	G	18	79899031	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.00157009875868792	0.236
18	77659032	C	A	18	79899032	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	2.65519385373842E-4	0.032
18	77659032	C	G	18	79899032	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	1.1757093250658E-4	0.028
18	77659032	C	T	18	79899032	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	1.27763854334715E-4	0.006
18	77659033	C	A	18	79899033	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	2.24722502338182E-4	0.1
18	77659033	C	G	18	79899033	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	4.1548443717975E-4	0.068
18	77659033	C	T	18	79899033	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	2.10939807339296E-5	0.0
18	77659034	C	A	18	79899034	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.00438295792444964	0.204
18	77659034	C	G	18	79899034	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.00443580159781901	0.192
18	77659034	C	T	18	79899034	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	3.95354031489624E-4	0.058
18	77659035	C	A	18	79899035	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.99271689587447	0.714
18	77659035	C	G	18	79899035	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.00121809358702379	0.042
18	77659035	C	T	18	79899035	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	4.96031065962849E-5	0.0
18	77659036	G	A	18	79899036	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	2.20371154089634E-5	0.004
18	77659036	G	C	18	79899036	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	1.03737395759762E-5	0.01
18	77659036	G	T	18	79899036	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	1.38119332745196E-5	0.004
18	77659037	C	A	18	79899037	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.88436013778642	0.588
18	77659037	C	G	18	79899037	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.999821620907705	0.908
18	77659037	C	T	18	79899037	y	y	intronic	KCNG2	.	.	intronic	ENSG00000178342	.	.	0.0205011205297869	0.17
18	77659038	A	C	18	79899038	y	y	splicing	KCNG2(NM_012283:exon2:c.625-2A>C)	.	.	splicing	ENSG00000178342(ENST00000316249:exon2:c.625-2A>C)	.	.	0.999982313960041	0.942
18	77659038	A	G	18	79899038	y	y	splicing	KCNG2(NM_012283:exon2:c.625-2A>G)	.	.	splicing	ENSG00000178342(ENST00000316249:exon2:c.625-2A>G)	.	.	0.999982313960041	0.942
18	77659038	A	T	18	79899038	y	y	splicing	KCNG2(NM_012283:exon2:c.625-2A>T)	.	.	splicing	ENSG00000178342(ENST00000316249:exon2:c.625-2A>T)	.	.	0.999982313960041	0.936
18	77659039	G	A	18	79899039	y	y	splicing	KCNG2(NM_012283:exon2:c.625-1G>A)	.	.	splicing	ENSG00000178342(ENST00000316249:exon2:c.625-1G>A)	.	.	0.999978791067592	0.924
18	77659039	G	C	18	79899039	y	y	splicing	KCNG2(NM_012283:exon2:c.625-1G>C)	.	.	splicing	ENSG00000178342(ENST00000316249:exon2:c.625-1G>C)	.	.	0.999978791067592	0.928
18	77659039	G	T	18	79899039	y	y	splicing	KCNG2(NM_012283:exon2:c.625-1G>T)	.	.	splicing	ENSG00000178342(ENST00000316249:exon2:c.625-1G>T)	.	.	0.999978791067592	0.918
18	77659040	G	A	18	79899040	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon2:c.G625A:p.G209S;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon2:c.G625A:p.G209S;	0.913078218333863	0.558
18	77659040	G	C	18	79899040	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon2:c.G625C:p.G209R;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon2:c.G625C:p.G209R;	0.988014458358725	0.692
18	77659040	G	T	18	79899040	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon2:c.G625T:p.G209C;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon2:c.G625T:p.G209C;	0.995100794486061	0.848
18	77659041	G	A	18	79899041	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon2:c.G626A:p.G209D;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon2:c.G626A:p.G209D;	0.110932005841627	0.478
18	77659041	G	C	18	79899041	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon2:c.G626C:p.G209A;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon2:c.G626C:p.G209A;	0.0782631167200352	0.412
18	77659041	G	T	18	79899041	y	y	exonic	KCNG2	nonsynonymous SNV	KCNG2:NM_012283:exon2:c.G626T:p.G209V;	exonic	ENSG00000178342	nonsynonymous SNV	ENSG00000178342:ENST00000316249:exon2:c.G626T:p.G209V;	0.0854134228356569	0.508
18	77664182	T	A	18	79904182	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon6:c.A610T:p.I204F;PQLC1:NM_001146345:exon5:c.A556T:p.I186F;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon6:c.A610T:p.I204F;ENSG00000122490:ENST00000409073:exon6:c.A361T:p.I121F;ENSG00000122490:ENST00000357575:exon5:c.A556T:p.I186F;	5.34554636538739E-4	0.0
18	77664182	T	C	18	79904182	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon6:c.A610G:p.I204V;PQLC1:NM_001146345:exon5:c.A556G:p.I186V;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon6:c.A610G:p.I204V;ENSG00000122490:ENST00000409073:exon6:c.A361G:p.I121V;ENSG00000122490:ENST00000357575:exon5:c.A556G:p.I186V;	8.09857578516032E-4	0.008
18	77664182	T	G	18	79904182	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon6:c.A610C:p.I204L;PQLC1:NM_001146345:exon5:c.A556C:p.I186L;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon6:c.A610C:p.I204L;ENSG00000122490:ENST00000409073:exon6:c.A361C:p.I121L;ENSG00000122490:ENST00000357575:exon5:c.A556C:p.I186L;	9.91013890173688E-4	0.02
18	77664183	G	A	18	79904183	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_001146343:exon4:c.C338T:p.A113V;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000590381:exon4:c.C338T:p.A113V;	0.0474072330474747	0.188
18	77664183	G	C	18	79904183	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon6:c.C609G:p.S203R;PQLC1:NM_001146345:exon5:c.C555G:p.S185R;PQLC1:NM_001146343:exon4:c.C338G:p.A113G;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon6:c.C609G:p.S203R;ENSG00000122490:ENST00000590381:exon4:c.C338G:p.A113G;ENSG00000122490:ENST00000409073:exon6:c.C360G:p.S120R;ENSG00000122490:ENST00000357575:exon5:c.C555G:p.S185R;	0.00342688116357539	0.158
18	77664183	G	T	18	79904183	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon6:c.C609A:p.S203R;PQLC1:NM_001146345:exon5:c.C555A:p.S185R;PQLC1:NM_001146343:exon4:c.C338A:p.A113E;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon6:c.C609A:p.S203R;ENSG00000122490:ENST00000590381:exon4:c.C338A:p.A113E;ENSG00000122490:ENST00000409073:exon6:c.C360A:p.S120R;ENSG00000122490:ENST00000357575:exon5:c.C555A:p.S185R;	0.0057027012013921	0.074
18	77664184	C	A	18	79904184	y	y	splicing	PQLC1(NM_001146345:exon6:c.555-1G>T;NM_001146343:exon5:c.338-1G>T;NM_025078:exon7:c.609-1G>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon7:c.609-1G>T;ENST00000357575:exon6:c.555-1G>T;ENST00000409073:exon7:c.360-1G>T;ENST00000351365:exon7:c.652-1G>T;ENST00000474967:exon6:c.475-1G>T;ENST00000590381:exon5:c.338-1G>T)	.	.	0.999986675681007	0.93
18	77664184	C	G	18	79904184	y	y	splicing	PQLC1(NM_001146345:exon6:c.555-1G>C;NM_001146343:exon5:c.338-1G>C;NM_025078:exon7:c.609-1G>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon7:c.609-1G>C;ENST00000357575:exon6:c.555-1G>C;ENST00000409073:exon7:c.360-1G>C;ENST00000351365:exon7:c.652-1G>C;ENST00000474967:exon6:c.475-1G>C;ENST00000590381:exon5:c.338-1G>C)	.	.	0.999986675681007	0.93
18	77664184	C	T	18	79904184	y	y	splicing	PQLC1(NM_001146345:exon6:c.555-1G>A;NM_001146343:exon5:c.338-1G>A;NM_025078:exon7:c.609-1G>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon7:c.609-1G>A;ENST00000357575:exon6:c.555-1G>A;ENST00000409073:exon7:c.360-1G>A;ENST00000351365:exon7:c.652-1G>A;ENST00000474967:exon6:c.475-1G>A;ENST00000590381:exon5:c.338-1G>A)	.	.	0.999986675681007	0.924
18	77664185	T	A	18	79904185	y	y	splicing	PQLC1(NM_001146345:exon6:c.555-2A>T;NM_001146343:exon5:c.338-2A>T;NM_025078:exon7:c.609-2A>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon7:c.609-2A>T;ENST00000357575:exon6:c.555-2A>T;ENST00000409073:exon7:c.360-2A>T;ENST00000351365:exon7:c.652-2A>T;ENST00000474967:exon6:c.475-2A>T;ENST00000590381:exon5:c.338-2A>T)	.	.	0.999967305459904	0.946
18	77664185	T	C	18	79904185	y	y	splicing	PQLC1(NM_001146345:exon6:c.555-2A>G;NM_001146343:exon5:c.338-2A>G;NM_025078:exon7:c.609-2A>G)	.	.	splicing	ENSG00000122490(ENST00000397778:exon7:c.609-2A>G;ENST00000357575:exon6:c.555-2A>G;ENST00000409073:exon7:c.360-2A>G;ENST00000351365:exon7:c.652-2A>G;ENST00000474967:exon6:c.475-2A>G;ENST00000590381:exon5:c.338-2A>G)	.	.	0.999967305459904	0.944
18	77664185	T	G	18	79904185	y	y	splicing	PQLC1(NM_001146345:exon6:c.555-2A>C;NM_001146343:exon5:c.338-2A>C;NM_025078:exon7:c.609-2A>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon7:c.609-2A>C;ENST00000357575:exon6:c.555-2A>C;ENST00000409073:exon7:c.360-2A>C;ENST00000351365:exon7:c.652-2A>C;ENST00000474967:exon6:c.475-2A>C;ENST00000590381:exon5:c.338-2A>C)	.	.	0.999967305459904	0.944
18	77664186	G	A	18	79904186	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00960228968607115	0.18
18	77664186	G	C	18	79904186	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.99972069970365	0.908
18	77664186	G	T	18	79904186	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.87138340784429	0.696
18	77664187	T	A	18	79904187	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.84502191891759E-5	0.124
18	77664187	T	C	18	79904187	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.66107858676095E-5	0.01
18	77664187	T	G	18	79904187	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.02049348113252E-4	0.014
18	77664188	G	A	18	79904188	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.6822908548668E-5	0.002
18	77664188	G	C	18	79904188	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.21144823517925E-4	0.072
18	77664188	G	T	18	79904188	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.29105309099328E-4	0.014
18	77664189	G	A	18	79904189	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.66258917648134E-5	0.002
18	77664189	G	C	18	79904189	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00105495794924206	0.122
18	77664189	G	T	18	79904189	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00108437604718737	0.102
18	77664190	A	C	18	79904190	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.250241017919465	0.21
18	77664190	A	G	18	79904190	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.70857811337521E-5	0.0
18	77664190	A	T	18	79904190	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.706746666512709	0.434
18	77664191	G	A	18	79904191	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.17223794969357E-5	0.002
18	77664191	G	C	18	79904191	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00284798540126656	0.028
18	77664191	G	T	18	79904191	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00206730864438469	0.032
18	77664192	A	C	18	79904192	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.805635267357458	0.826
18	77664192	A	G	18	79904192	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0509141216575389	0.226
18	77664192	A	T	18	79904192	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.979227871327971	0.858
18	77664193	C	A	18	79904193	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.77839000218278E-4	0.012
18	77664193	C	G	18	79904193	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.88050780788692E-4	0.0
18	77664193	C	T	18	79904193	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0136167309858651	0.214
18	77664194	A	C	18	79904194	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.938796036785984	0.648
18	77664194	A	G	18	79904194	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.714524313941844	0.338
18	77664194	A	T	18	79904194	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999944618035829	0.946
18	77664195	C	A	18	79904195	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.95792866086172E-5	0.0
18	77664195	C	G	18	79904195	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.93014365101017E-5	0.006
18	77664195	C	T	18	79904195	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.57550193845515E-4	0.008
18	77679176	C	A	18	79919176	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.03279981258122E-5	0.002
18	77679176	C	G	18	79919176	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.22643698097881E-5	0.012
18	77679176	C	T	18	79919176	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.34956831930666E-5	0.004
18	77679177	G	A	18	79919177	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.12038373957544E-5	0.0
18	77679177	G	C	18	79919177	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.72410482137535E-6	0.0
18	77679177	G	T	18	79919177	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.04900693216345E-6	0.0
18	77679178	G	A	18	79919178	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.72500162375589E-5	0.012
18	77679178	G	C	18	79919178	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.07370350025854E-4	0.04
18	77679178	G	T	18	79919178	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.43132253258666E-4	0.004
18	77679179	C	A	18	79919179	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999336967894275	0.95
18	77679179	C	G	18	79919179	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.996064409973994	0.794
18	77679179	C	T	18	79919179	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999536453111475	0.954
18	77679180	C	A	18	79919180	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00182908630288169	0.088
18	77679180	C	G	18	79919180	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00437700755416519	0.204
18	77679180	C	T	18	79919180	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.04605419067162E-4	0.074
18	77679181	T	A	18	79919181	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.996387482229397	0.91
18	77679181	T	C	18	79919181	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.81939084279051	0.796
18	77679181	T	G	18	79919181	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.986153837234612	0.872
18	77679182	A	C	18	79919182	y	y	splicing	PQLC1(NM_001146345:exon5:c.554+2T>G;NM_025078:exon6:c.608+2T>G)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.608+2T>G;ENST00000357575:exon5:c.554+2T>G;ENST00000409073:exon6:c.359+2T>G;ENST00000351365:exon6:c.651+2T>G)	.	.	0.999989917668626	0.926
18	77679182	A	G	18	79919182	y	y	splicing	PQLC1(NM_001146345:exon5:c.554+2T>C;NM_025078:exon6:c.608+2T>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.608+2T>C;ENST00000357575:exon5:c.554+2T>C;ENST00000409073:exon6:c.359+2T>C;ENST00000351365:exon6:c.651+2T>C)	.	.	0.993179459523591	0.642
18	77679182	A	T	18	79919182	y	y	splicing	PQLC1(NM_001146345:exon5:c.554+2T>A;NM_025078:exon6:c.608+2T>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.608+2T>A;ENST00000357575:exon5:c.554+2T>A;ENST00000409073:exon6:c.359+2T>A;ENST00000351365:exon6:c.651+2T>A)	.	.	0.999989917668626	0.926
18	77679183	C	A	18	79919183	y	y	splicing	PQLC1(NM_001146345:exon5:c.554+1G>T;NM_025078:exon6:c.608+1G>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.608+1G>T;ENST00000357575:exon5:c.554+1G>T;ENST00000409073:exon6:c.359+1G>T;ENST00000351365:exon6:c.651+1G>T)	.	.	0.999981760802075	0.94
18	77679183	C	G	18	79919183	y	y	splicing	PQLC1(NM_001146345:exon5:c.554+1G>C;NM_025078:exon6:c.608+1G>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.608+1G>C;ENST00000357575:exon5:c.554+1G>C;ENST00000409073:exon6:c.359+1G>C;ENST00000351365:exon6:c.651+1G>C)	.	.	0.999981760802075	0.94
18	77679183	C	T	18	79919183	y	y	splicing	PQLC1(NM_001146345:exon5:c.554+1G>A;NM_025078:exon6:c.608+1G>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.608+1G>A;ENST00000357575:exon5:c.554+1G>A;ENST00000409073:exon6:c.359+1G>A;ENST00000351365:exon6:c.651+1G>A)	.	.	0.999981760802075	0.94
18	77679184	C	A	18	79919184	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.G608T:p.S203I;PQLC1:NM_001146345:exon4:c.G554T:p.S185I;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.G608T:p.S203I;ENSG00000122490:ENST00000409073:exon5:c.G359T:p.S120I;ENSG00000122490:ENST00000357575:exon4:c.G554T:p.S185I;	0.999986716550684	0.98
18	77679184	C	G	18	79919184	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.G608C:p.S203T;PQLC1:NM_001146345:exon4:c.G554C:p.S185T;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.G608C:p.S203T;ENSG00000122490:ENST00000409073:exon5:c.G359C:p.S120T;ENSG00000122490:ENST00000357575:exon4:c.G554C:p.S185T;	0.999989383725594	0.976
18	77679184	C	T	18	79919184	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.G608A:p.S203N;PQLC1:NM_001146345:exon4:c.G554A:p.S185N;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.G608A:p.S203N;ENSG00000122490:ENST00000409073:exon5:c.G359A:p.S120N;ENSG00000122490:ENST00000357575:exon4:c.G554A:p.S185N;	0.99997395188282	1.0
18	77679185	T	A	18	79919185	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.A607T:p.S203C;PQLC1:NM_001146345:exon4:c.A553T:p.S185C;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.A607T:p.S203C;ENSG00000122490:ENST00000409073:exon5:c.A358T:p.S120C;ENSG00000122490:ENST00000357575:exon4:c.A553T:p.S185C;	0.999929579432104	1.0
18	77679185	T	C	18	79919185	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.A607G:p.S203G;PQLC1:NM_001146345:exon4:c.A553G:p.S185G;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.A607G:p.S203G;ENSG00000122490:ENST00000409073:exon5:c.A358G:p.S120G;ENSG00000122490:ENST00000357575:exon4:c.A553G:p.S185G;	0.999924595348431	0.998
18	77679185	T	G	18	79919185	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.A607C:p.S203R;PQLC1:NM_001146345:exon4:c.A553C:p.S185R;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.A607C:p.S203R;ENSG00000122490:ENST00000409073:exon5:c.A358C:p.S120R;ENSG00000122490:ENST00000357575:exon4:c.A553C:p.S185R;	0.999752794274806	0.986
18	77679186	C	A	18	79919186	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.G606T:p.M202I;PQLC1:NM_001146345:exon4:c.G552T:p.M184I;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.G606T:p.M202I;ENSG00000122490:ENST00000409073:exon5:c.G357T:p.M119I;ENSG00000122490:ENST00000357575:exon4:c.G552T:p.M184I;	0.938367975849823	0.856
18	77679186	C	G	18	79919186	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.G606C:p.M202I;PQLC1:NM_001146345:exon4:c.G552C:p.M184I;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.G606C:p.M202I;ENSG00000122490:ENST00000409073:exon5:c.G357C:p.M119I;ENSG00000122490:ENST00000357575:exon4:c.G552C:p.M184I;	0.841870403669833	0.744
18	77679186	C	T	18	79919186	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.G606A:p.M202I;PQLC1:NM_001146345:exon4:c.G552A:p.M184I;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.G606A:p.M202I;ENSG00000122490:ENST00000409073:exon5:c.G357A:p.M119I;ENSG00000122490:ENST00000357575:exon4:c.G552A:p.M184I;	0.832182045434397	0.748
18	77679399	G	A	18	79919399	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon5:c.C393T:p.D131D;PQLC1:NM_001146345:exon4:c.C339T:p.D113D;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.C393T:p.D131D;ENSG00000122490:ENST00000409073:exon5:c.C144T:p.D48D;ENSG00000122490:ENST00000478144:exon4:c.C354T:p.D118D;ENSG00000122490:ENST00000357575:exon4:c.C339T:p.D113D;	5.61526581917265E-5	0.0
18	77679399	G	C	18	79919399	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.C393G:p.D131E;PQLC1:NM_001146345:exon4:c.C339G:p.D113E;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.C393G:p.D131E;ENSG00000122490:ENST00000409073:exon5:c.C144G:p.D48E;ENSG00000122490:ENST00000478144:exon4:c.C354G:p.D118E;ENSG00000122490:ENST00000357575:exon4:c.C339G:p.D113E;	1.63224954086211E-5	0.006
18	77679399	G	T	18	79919399	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.C393A:p.D131E;PQLC1:NM_001146345:exon4:c.C339A:p.D113E;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.C393A:p.D131E;ENSG00000122490:ENST00000409073:exon5:c.C144A:p.D48E;ENSG00000122490:ENST00000478144:exon4:c.C354A:p.D118E;ENSG00000122490:ENST00000357575:exon4:c.C339A:p.D113E;	4.89250604382635E-5	0.058
18	77679400	T	A	18	79919400	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.A392T:p.D131V;PQLC1:NM_001146345:exon4:c.A338T:p.D113V;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.A392T:p.D131V;ENSG00000122490:ENST00000409073:exon5:c.A143T:p.D48V;ENSG00000122490:ENST00000478144:exon4:c.A353T:p.D118V;ENSG00000122490:ENST00000357575:exon4:c.A338T:p.D113V;	0.109469290639671	0.46
18	77679400	T	C	18	79919400	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.A392G:p.D131G;PQLC1:NM_001146345:exon4:c.A338G:p.D113G;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.A392G:p.D131G;ENSG00000122490:ENST00000409073:exon5:c.A143G:p.D48G;ENSG00000122490:ENST00000478144:exon4:c.A353G:p.D118G;ENSG00000122490:ENST00000357575:exon4:c.A338G:p.D113G;	0.303473901076575	0.588
18	77679400	T	G	18	79919400	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon5:c.A392C:p.D131A;PQLC1:NM_001146345:exon4:c.A338C:p.D113A;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000397778:exon5:c.A392C:p.D131A;ENSG00000122490:ENST00000409073:exon5:c.A143C:p.D48A;ENSG00000122490:ENST00000478144:exon4:c.A353C:p.D118A;ENSG00000122490:ENST00000357575:exon4:c.A338C:p.D113A;	0.306646250758696	0.596
18	77679401	C	A	18	79919401	y	y	splicing	PQLC1(NM_001146345:exon5:c.338-1G>T;NM_025078:exon6:c.392-1G>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.392-1G>T;ENST00000357575:exon5:c.338-1G>T;ENST00000409073:exon6:c.143-1G>T;ENST00000351365:exon6:c.435-1G>T;ENST00000591964:exon7:c.540-1G>T;ENST00000478144:exon5:c.353-1G>T)	.	.	0.999981760802075	0.936
18	77679401	C	G	18	79919401	y	y	splicing	PQLC1(NM_001146345:exon5:c.338-1G>C;NM_025078:exon6:c.392-1G>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.392-1G>C;ENST00000357575:exon5:c.338-1G>C;ENST00000409073:exon6:c.143-1G>C;ENST00000351365:exon6:c.435-1G>C;ENST00000591964:exon7:c.540-1G>C;ENST00000478144:exon5:c.353-1G>C)	.	.	0.999981760802075	0.936
18	77679401	C	T	18	79919401	y	y	splicing	PQLC1(NM_001146345:exon5:c.338-1G>A;NM_025078:exon6:c.392-1G>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.392-1G>A;ENST00000357575:exon5:c.338-1G>A;ENST00000409073:exon6:c.143-1G>A;ENST00000351365:exon6:c.435-1G>A;ENST00000591964:exon7:c.540-1G>A;ENST00000478144:exon5:c.353-1G>A)	.	.	0.999981760802075	0.936
18	77679402	T	A	18	79919402	y	y	splicing	PQLC1(NM_001146345:exon5:c.338-2A>T;NM_025078:exon6:c.392-2A>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.392-2A>T;ENST00000357575:exon5:c.338-2A>T;ENST00000409073:exon6:c.143-2A>T;ENST00000351365:exon6:c.435-2A>T;ENST00000591964:exon7:c.540-2A>T;ENST00000478144:exon5:c.353-2A>T)	.	.	0.999992752818502	0.926
18	77679402	T	C	18	79919402	y	y	splicing	PQLC1(NM_001146345:exon5:c.338-2A>G;NM_025078:exon6:c.392-2A>G)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.392-2A>G;ENST00000357575:exon5:c.338-2A>G;ENST00000409073:exon6:c.143-2A>G;ENST00000351365:exon6:c.435-2A>G;ENST00000591964:exon7:c.540-2A>G;ENST00000478144:exon5:c.353-2A>G)	.	.	0.999992752818502	0.926
18	77679402	T	G	18	79919402	y	y	splicing	PQLC1(NM_001146345:exon5:c.338-2A>C;NM_025078:exon6:c.392-2A>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon6:c.392-2A>C;ENST00000357575:exon5:c.338-2A>C;ENST00000409073:exon6:c.143-2A>C;ENST00000351365:exon6:c.435-2A>C;ENST00000591964:exon7:c.540-2A>C;ENST00000478144:exon5:c.353-2A>C)	.	.	0.999992752818502	0.926
18	77679403	A	C	18	79919403	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.998287785599084	0.74
18	77679403	A	G	18	79919403	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.64689063141604E-4	0.036
18	77679403	A	T	18	79919403	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.365228431471316	0.544
18	77679404	G	A	18	79919404	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.13254225154489E-4	0.02
18	77679404	G	C	18	79919404	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.33492159050608E-4	0.024
18	77679404	G	T	18	79919404	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.13254225154489E-4	0.02
18	77679405	G	A	18	79919405	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.02458136020437E-5	0.004
18	77679405	G	C	18	79919405	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00226412830788488	0.22
18	77679405	G	T	18	79919405	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0024070520446512	0.194
18	77679406	G	A	18	79919406	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.80464368737284E-5	0.006
18	77679406	G	C	18	79919406	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00108131969384096	0.072
18	77679406	G	T	18	79919406	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00197239586499892	0.06
18	77679407	C	A	18	79919407	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.61805658581683E-5	0.004
18	77679407	C	G	18	79919407	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.61078424415044E-5	0.004
18	77679407	C	T	18	79919407	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.49063415446325E-5	0.0
18	77679408	G	A	18	79919408	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.14395526948056E-5	0.0
18	77679408	G	C	18	79919408	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.31888122012286E-4	0.022
18	77679408	G	T	18	79919408	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.997191463859976	0.918
18	77679409	A	C	18	79919409	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00100724711166165	0.046
18	77679409	A	G	18	79919409	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.36710102773903E-5	0.0
18	77679409	A	T	18	79919409	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00127476365727715	0.072
18	77679410	G	A	18	79919410	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.25564951463645E-5	0.004
18	77679410	G	C	18	79919410	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.25798018418622E-4	0.004
18	77679410	G	T	18	79919410	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.53313016667796E-4	0.054
18	77679411	A	C	18	79919411	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00117971944790138	0.068
18	77679411	A	G	18	79919411	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.91038353482831E-4	0.034
18	77679411	A	T	18	79919411	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00163489836625576	0.118
18	77679412	G	A	18	79919412	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.75455548676581E-5	0.0
18	77679412	G	C	18	79919412	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.12853453441401E-4	0.028
18	77679412	G	T	18	79919412	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00120654590209509	0.024
18	77685052	A	C	18	79925052	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	6.7625743089426E-5	0.016
18	77685052	A	G	18	79925052	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	6.7625743089426E-5	0.016
18	77685052	A	T	18	79925052	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.60509126160735E-4	0.022
18	77685053	T	A	18	79925053	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.12288223045236E-5	0.002
18	77685053	T	C	18	79925053	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.12288223045236E-5	0.002
18	77685053	T	G	18	79925053	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.12288223045236E-5	0.002
18	77685054	C	A	18	79925054	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000593030:exon7:c.476-1G>T)	.	.	1.47800409892608E-4	0.02
18	77685054	C	G	18	79925054	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000593030:exon7:c.476-1G>C)	.	.	1.47800409892608E-4	0.02
18	77685054	C	T	18	79925054	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000593030:exon7:c.476-1G>A)	.	.	1.47800409892608E-4	0.02
18	77685055	T	A	18	79925055	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000593030:exon7:c.476-2A>T)	.	.	1.60509126160735E-4	0.022
18	77685055	T	C	18	79925055	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000593030:exon7:c.476-2A>G)	.	.	6.7625743089426E-5	0.016
18	77685055	T	G	18	79925055	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000593030:exon7:c.476-2A>C)	.	.	6.7625743089426E-5	0.016
18	77685056	G	A	18	79925056	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685056	G	C	18	79925056	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685056	G	T	18	79925056	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685057	T	A	18	79925057	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.60509126160735E-4	0.024
18	77685057	T	C	18	79925057	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.7625743089426E-5	0.016
18	77685057	T	G	18	79925057	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.7625743089426E-5	0.016
18	77685058	C	A	18	79925058	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685058	C	G	18	79925058	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685058	C	T	18	79925058	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685059	C	A	18	79925059	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.83488359282596E-5	0.006
18	77685059	C	G	18	79925059	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.42005417025298E-5	0.0
18	77685059	C	T	18	79925059	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.51226282124259E-5	0.0
18	77685060	G	A	18	79925060	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.26718658278921E-5	0.002
18	77685060	G	C	18	79925060	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.26718658278921E-5	0.002
18	77685060	G	T	18	79925060	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.26718658278921E-5	0.004
18	77685061	G	A	18	79925061	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.37501361942679E-5	0.002
18	77685061	G	C	18	79925061	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.90177193295887E-6	0.01
18	77685061	G	T	18	79925061	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.90177193295887E-6	0.002
18	77685062	T	A	18	79925062	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.21161612834329E-5	0.002
18	77685062	T	C	18	79925062	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.12288223045236E-5	0.002
18	77685062	T	G	18	79925062	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.12288223045236E-5	0.002
18	77685063	G	A	18	79925063	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.58927937202005E-5	0.004
18	77685063	G	C	18	79925063	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.0288925866825E-5	0.006
18	77685063	G	T	18	79925063	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.0288925866825E-5	0.004
18	77685064	G	A	18	79925064	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685064	G	C	18	79925064	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685064	G	T	18	79925064	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.02
18	77685065	A	C	18	79925065	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.7625743089426E-5	0.016
18	77685065	A	G	18	79925065	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.7625743089426E-5	0.016
18	77685065	A	T	18	79925065	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.60509126160735E-4	0.022
18	77690220	T	A	18	79930220	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.024
18	77690220	T	C	18	79930220	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.06602690930623E-4	0.024
18	77690220	T	G	18	79930220	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.06602690930623E-4	0.024
18	77690221	C	A	18	79930221	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.0
18	77690221	C	G	18	79930221	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.0
18	77690221	C	T	18	79930221	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.0
18	77690222	A	C	18	79930222	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.024
18	77690222	A	G	18	79930222	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.024
18	77690222	A	T	18	79930222	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.12689098276539E-4	0.024
18	77690223	C	A	18	79930223	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.0
18	77690223	C	G	18	79930223	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.0
18	77690223	C	T	18	79930223	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.68306564525381E-4	0.0
18	77690224	T	A	18	79930224	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.12689098276539E-4	0.03
18	77690224	T	C	18	79930224	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.024
18	77690224	T	G	18	79930224	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.024
18	77690225	T	A	18	79930225	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.12689098276539E-4	0.032
18	77690225	T	C	18	79930225	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.024
18	77690225	T	G	18	79930225	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.024
18	77690226	A	C	18	79930226	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.539+2T>G;ENST00000593030:exon6:c.475+2T>G)	.	.	3.94081116995207E-4	0.018
18	77690226	A	G	18	79930226	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.539+2T>C;ENST00000593030:exon6:c.475+2T>C)	.	.	4.35658515895286E-4	0.016
18	77690226	A	T	18	79930226	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.539+2T>A;ENST00000593030:exon6:c.475+2T>A)	.	.	3.94081116995207E-4	0.012
18	77690227	C	A	18	79930227	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.539+1G>T;ENST00000593030:exon6:c.475+1G>T)	.	.	0.0010327499008663	0.0
18	77690227	C	G	18	79930227	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.539+1G>C;ENST00000593030:exon6:c.475+1G>C)	.	.	0.0010327499008663	0.0
18	77690227	C	T	18	79930227	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.539+1G>A;ENST00000593030:exon6:c.475+1G>A)	.	.	0.0010327499008663	0.006
18	77690228	A	C	18	79930228	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	4.1714885049373E-4	0.028
18	77690228	A	G	18	79930228	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	4.1714885049373E-4	0.028
18	77690228	A	T	18	79930228	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.87318669744779E-4	0.022
18	77690229	A	C	18	79930229	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	5.01212398005583E-5	0.0
18	77690229	A	G	18	79930229	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	5.01212398005583E-5	0.0
18	77690229	A	T	18	79930229	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	8.20576206096585E-5	0.002
18	77690230	G	A	18	79930230	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	5.82795608102266E-4	0.0
18	77690230	G	C	18	79930230	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	4.54864143880111E-4	0.0
18	77690230	G	T	18	79930230	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	4.54864143880111E-4	0.0
18	77690310	C	A	18	79930310	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon5:c.G393T:p.V131V;	5.69439264402225E-5	0.0
18	77690310	C	G	18	79930310	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon5:c.G393C:p.V131V;	5.15941453541388E-5	0.0
18	77690310	C	T	18	79930310	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon5:c.G393A:p.V131V;	5.69439264402225E-5	0.0
18	77690311	A	C	18	79930311	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon5:c.T392G:p.V131G;	5.67891142965171E-5	0.0
18	77690311	A	G	18	79930311	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon5:c.T392C:p.V131A;	5.67891142965171E-5	0.0
18	77690311	A	T	18	79930311	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon5:c.T392A:p.V131E;	5.67891142965171E-5	0.0
18	77690312	C	A	18	79930312	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.456-1G>T;ENST00000593030:exon6:c.392-1G>T)	.	.	0.00116065968722173	0.0
18	77690312	C	G	18	79930312	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.456-1G>C;ENST00000593030:exon6:c.392-1G>C)	.	.	0.00127923335830091	0.0
18	77690312	C	T	18	79930312	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.456-1G>A;ENST00000593030:exon6:c.392-1G>A)	.	.	0.00100487064843151	0.0
18	77690313	T	A	18	79930313	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.456-2A>T;ENST00000593030:exon6:c.392-2A>T)	.	.	4.35658515895286E-4	0.012
18	77690313	T	C	18	79930313	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.456-2A>G;ENST00000593030:exon6:c.392-2A>G)	.	.	3.64239926299993E-4	0.012
18	77690313	T	G	18	79930313	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon6:c.456-2A>C;ENST00000593030:exon6:c.392-2A>C)	.	.	4.35658515895286E-4	0.012
18	77690314	G	A	18	79930314	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.002
18	77690314	G	C	18	79930314	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.002
18	77690314	G	T	18	79930314	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.002
18	77690315	A	C	18	79930315	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690315	A	G	18	79930315	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.86043302275149E-4	0.02
18	77690315	A	T	18	79930315	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690316	A	C	18	79930316	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.86043302275149E-4	0.02
18	77690316	A	G	18	79930316	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.86043302275149E-4	0.018
18	77690316	A	T	18	79930316	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690317	A	C	18	79930317	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.86043302275149E-4	0.018
18	77690317	A	G	18	79930317	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.86043302275149E-4	0.018
18	77690317	A	T	18	79930317	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690318	A	C	18	79930318	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.98902375906994E-5	0.0
18	77690318	A	G	18	79930318	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.98902375906994E-5	0.0
18	77690318	A	T	18	79930318	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.98902375906994E-5	0.0
18	77690319	G	A	18	79930319	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.002
18	77690319	G	C	18	79930319	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.002
18	77690319	G	T	18	79930319	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.35115461238441E-4	0.002
18	77690320	A	C	18	79930320	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690320	A	G	18	79930320	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690320	A	T	18	79930320	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.12689098276539E-4	0.018
18	77690321	A	C	18	79930321	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690321	A	G	18	79930321	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690321	A	T	18	79930321	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.93338122508907E-4	0.018
18	77690322	A	C	18	79930322	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690322	A	G	18	79930322	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.86043302275149E-4	0.02
18	77690322	A	T	18	79930322	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.28931909661929E-4	0.018
18	77690323	A	C	18	79930323	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.94081116995207E-4	0.016
18	77690323	A	G	18	79930323	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.94081116995207E-4	0.016
18	77690323	A	T	18	79930323	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.94081116995207E-4	0.01
18	77693961	G	A	18	79933961	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.0137201333722E-4	0.02
18	77693961	G	C	18	79933961	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.87538657549525E-4	0.01
18	77693961	G	T	18	79933961	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.0137201333722E-4	0.01
18	77693962	T	A	18	79933962	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.08881486491531E-4	0.016
18	77693962	T	C	18	79933962	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00147683351176973	0.016
18	77693962	T	G	18	79933962	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00133465960783324	0.022
18	77693963	A	C	18	79933963	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0835497416648163	0.458
18	77693963	A	G	18	79933963	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.15903049307845	0.44
18	77693963	A	T	18	79933963	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.32513566004078	0.416
18	77693964	C	A	18	79933964	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999740413782863	0.966
18	77693964	C	G	18	79933964	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999987632047081	0.984
18	77693964	C	T	18	79933964	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999957651852012	0.982
18	77693965	A	C	18	79933965	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.72317346980656E-5	0.002
18	77693965	A	G	18	79933965	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.34855971581928E-5	0.0
18	77693965	A	T	18	79933965	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	9.99633852577464E-5	0.056
18	77693966	T	A	18	79933966	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999758542473921	0.952
18	77693966	T	C	18	79933966	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.986505483601166	0.798
18	77693966	T	G	18	79933966	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999743112976611	0.94
18	77693967	A	C	18	79933967	y	y	splicing	PQLC1(NM_025078:exon5:c.391+2T>G)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.391+2T>G;ENST00000409073:exon5:c.142+2T>G;ENST00000351365:exon5:c.434+2T>G;ENST00000593030:exon5:c.391+2T>G)	.	.	0.999978156327223	0.932
18	77693967	A	G	18	79933967	y	y	splicing	PQLC1(NM_025078:exon5:c.391+2T>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.391+2T>C;ENST00000409073:exon5:c.142+2T>C;ENST00000351365:exon5:c.434+2T>C;ENST00000593030:exon5:c.391+2T>C)	.	.	0.978763800270509	0.6
18	77693967	A	T	18	79933967	y	y	splicing	PQLC1(NM_025078:exon5:c.391+2T>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.391+2T>A;ENST00000409073:exon5:c.142+2T>A;ENST00000351365:exon5:c.434+2T>A;ENST00000593030:exon5:c.391+2T>A)	.	.	0.999966514958823	0.936
18	77693968	C	A	18	79933968	y	y	splicing	PQLC1(NM_025078:exon5:c.391+1G>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.391+1G>T;ENST00000409073:exon5:c.142+1G>T;ENST00000351365:exon5:c.434+1G>T;ENST00000593030:exon5:c.391+1G>T)	.	.	0.999916487880886	0.946
18	77693968	C	G	18	79933968	y	y	splicing	PQLC1(NM_025078:exon5:c.391+1G>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.391+1G>C;ENST00000409073:exon5:c.142+1G>C;ENST00000351365:exon5:c.434+1G>C;ENST00000593030:exon5:c.391+1G>C)	.	.	0.999945520654368	0.944
18	77693968	C	T	18	79933968	y	y	splicing	PQLC1(NM_025078:exon5:c.391+1G>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.391+1G>A;ENST00000409073:exon5:c.142+1G>A;ENST00000351365:exon5:c.434+1G>A;ENST00000593030:exon5:c.391+1G>A)	.	.	0.999916487880886	0.936
18	77693969	C	A	18	79933969	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.G391T:p.D131Y;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.G391T:p.V131L;ENSG00000122490:ENST00000397778:exon4:c.G391T:p.D131Y;ENSG00000122490:ENST00000409073:exon4:c.G142T:p.D48Y;	0.999968341290402	0.986
18	77693969	C	G	18	79933969	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.G391C:p.D131H;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.G391C:p.V131L;ENSG00000122490:ENST00000397778:exon4:c.G391C:p.D131H;ENSG00000122490:ENST00000409073:exon4:c.G142C:p.D48H;	0.999975825244815	0.936
18	77693969	C	T	18	79933969	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.G391A:p.D131N;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.G391A:p.V131M;ENSG00000122490:ENST00000397778:exon4:c.G391A:p.D131N;ENSG00000122490:ENST00000409073:exon4:c.G142A:p.D48N;	0.999988463520233	1.0
18	77693970	C	A	18	79933970	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon4:c.G390T:p.L130L;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.G390T:p.L130L;ENSG00000122490:ENST00000397778:exon4:c.G390T:p.L130L;ENSG00000122490:ENST00000409073:exon4:c.G141T:p.L47L;	0.00629580120263629	0.06
18	77693970	C	G	18	79933970	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon4:c.G390C:p.L130L;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.G390C:p.L130L;ENSG00000122490:ENST00000397778:exon4:c.G390C:p.L130L;ENSG00000122490:ENST00000409073:exon4:c.G141C:p.L47L;	0.00255008528587353	0.05
18	77693970	C	T	18	79933970	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon4:c.G390A:p.L130L;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.G390A:p.L130L;ENSG00000122490:ENST00000397778:exon4:c.G390A:p.L130L;ENSG00000122490:ENST00000409073:exon4:c.G141A:p.L47L;	0.00220736764976578	0.06
18	77693971	A	C	18	79933971	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.T389G:p.L130R;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.T389G:p.L130R;ENSG00000122490:ENST00000397778:exon4:c.T389G:p.L130R;ENSG00000122490:ENST00000409073:exon4:c.T140G:p.L47R;	0.0018778133218146	0.03
18	77693971	A	G	18	79933971	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.T389C:p.L130P;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.T389C:p.L130P;ENSG00000122490:ENST00000397778:exon4:c.T389C:p.L130P;ENSG00000122490:ENST00000409073:exon4:c.T140C:p.L47P;	0.00903476183393288	0.14
18	77693971	A	T	18	79933971	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.T389A:p.L130Q;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.T389A:p.L130Q;ENSG00000122490:ENST00000397778:exon4:c.T389A:p.L130Q;ENSG00000122490:ENST00000409073:exon4:c.T140A:p.L47Q;	6.59538421281736E-4	0.012
18	77694021	A	C	18	79934021	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon4:c.T339G:p.A113A;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.T339G:p.A113A;ENSG00000122490:ENST00000397778:exon4:c.T339G:p.A113A;ENSG00000122490:ENST00000409073:exon4:c.T90G:p.A30A;	3.3838275278032E-4	0.018
18	77694021	A	G	18	79934021	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon4:c.T339C:p.A113A;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.T339C:p.A113A;ENSG00000122490:ENST00000397778:exon4:c.T339C:p.A113A;ENSG00000122490:ENST00000409073:exon4:c.T90C:p.A30A;	1.65465687340913E-4	0.012
18	77694021	A	T	18	79934021	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon4:c.T339A:p.A113A;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.T339A:p.A113A;ENSG00000122490:ENST00000397778:exon4:c.T339A:p.A113A;ENSG00000122490:ENST00000409073:exon4:c.T90A:p.A30A;	3.61365437867214E-4	0.048
18	77694022	G	A	18	79934022	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.C338T:p.A113V;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.C338T:p.A113V;ENSG00000122490:ENST00000397778:exon4:c.C338T:p.A113V;ENSG00000122490:ENST00000409073:exon4:c.C89T:p.A30V;	0.040970415325338	0.356
18	77694022	G	C	18	79934022	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.C338G:p.A113G;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.C338G:p.A113G;ENSG00000122490:ENST00000397778:exon4:c.C338G:p.A113G;ENSG00000122490:ENST00000409073:exon4:c.C89G:p.A30G;	7.22418481372255E-4	0.138
18	77694022	G	T	18	79934022	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon4:c.C338A:p.A113D;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon4:c.C338A:p.A113D;ENSG00000122490:ENST00000397778:exon4:c.C338A:p.A113D;ENSG00000122490:ENST00000409073:exon4:c.C89A:p.A30D;	0.00147855677945024	0.026
18	77694023	C	A	18	79934023	y	y	splicing	PQLC1(NM_025078:exon5:c.338-1G>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.338-1G>T;ENST00000409073:exon5:c.89-1G>T;ENST00000351365:exon5:c.381-1G>T;ENST00000593030:exon5:c.338-1G>T;ENST00000589452:exon6:c.475-1G>T)	.	.	0.999771945680055	0.858
18	77694023	C	G	18	79934023	y	y	splicing	PQLC1(NM_025078:exon5:c.338-1G>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.338-1G>C;ENST00000409073:exon5:c.89-1G>C;ENST00000351365:exon5:c.381-1G>C;ENST00000593030:exon5:c.338-1G>C;ENST00000589452:exon6:c.475-1G>C)	.	.	0.999725244481785	0.854
18	77694023	C	T	18	79934023	y	y	splicing	PQLC1(NM_025078:exon5:c.338-1G>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.338-1G>A;ENST00000409073:exon5:c.89-1G>A;ENST00000351365:exon5:c.381-1G>A;ENST00000593030:exon5:c.338-1G>A;ENST00000589452:exon6:c.475-1G>A)	.	.	0.999771945680055	0.862
18	77694024	T	A	18	79934024	y	y	splicing	PQLC1(NM_025078:exon5:c.338-2A>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.338-2A>T;ENST00000409073:exon5:c.89-2A>T;ENST00000351365:exon5:c.381-2A>T;ENST00000593030:exon5:c.338-2A>T;ENST00000589452:exon6:c.475-2A>T)	.	.	0.999822948454469	0.826
18	77694024	T	C	18	79934024	y	y	splicing	PQLC1(NM_025078:exon5:c.338-2A>G)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.338-2A>G;ENST00000409073:exon5:c.89-2A>G;ENST00000351365:exon5:c.381-2A>G;ENST00000593030:exon5:c.338-2A>G;ENST00000589452:exon6:c.475-2A>G)	.	.	0.999822948454469	0.8
18	77694024	T	G	18	79934024	y	y	splicing	PQLC1(NM_025078:exon5:c.338-2A>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon5:c.338-2A>C;ENST00000409073:exon5:c.89-2A>C;ENST00000351365:exon5:c.381-2A>C;ENST00000593030:exon5:c.338-2A>C;ENST00000589452:exon6:c.475-2A>C)	.	.	0.999822948454469	0.796
18	77694025	A	C	18	79934025	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.954520337888466	0.568
18	77694025	A	G	18	79934025	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.84831506074974E-5	0.05
18	77694025	A	T	18	79934025	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0145510862928777	0.214
18	77694026	C	A	18	79934026	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.81915869434616E-5	0.01
18	77694026	C	G	18	79934026	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.69248400660907E-5	0.004
18	77694026	C	T	18	79934026	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.85718995603642E-5	0.004
18	77694027	A	C	18	79934027	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.17068643579724	0.474
18	77694027	A	G	18	79934027	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.37049926212403E-4	0.056
18	77694027	A	T	18	79934027	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.983016721109605	0.912
18	77694028	C	A	18	79934028	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.81122185803124E-5	0.0
18	77694028	C	G	18	79934028	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.273366160808E-5	0.016
18	77694028	C	T	18	79934028	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.74510433923387E-5	0.02
18	77694029	G	A	18	79934029	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.24787684155224E-5	0.0
18	77694029	G	C	18	79934029	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.991656427254879	0.91
18	77694029	G	T	18	79934029	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.957566568881969	0.892
18	77694030	T	A	18	79934030	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.22992918957641E-5	0.0
18	77694030	T	C	18	79934030	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.992400216869003	0.942
18	77694030	T	G	18	79934030	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.16182799905373E-5	0.0
18	77694031	T	A	18	79934031	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.23774681805705E-5	0.01
18	77694031	T	C	18	79934031	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.91694799434184E-5	0.0
18	77694031	T	G	18	79934031	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.03488284773683E-5	0.0
18	77694032	A	C	18	79934032	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00409358758623019	0.12
18	77694032	A	G	18	79934032	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.20923995164654E-4	0.002
18	77694032	A	T	18	79934032	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00465483179659072	0.178
18	77694033	A	C	18	79934033	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.135313201949361	0.496
18	77694033	A	G	18	79934033	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.75996684890827E-4	0.144
18	77694033	A	T	18	79934033	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.174712218713395	0.54
18	77694034	A	C	18	79934034	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00616750619811199	0.222
18	77694034	A	G	18	79934034	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.05974686404994E-5	0.006
18	77694034	A	T	18	79934034	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0134285423136553	0.298
18	77703321	C	A	18	79943321	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.2549006801343E-5	0.002
18	77703321	C	G	18	79943321	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.55551968084794E-5	0.0
18	77703321	C	T	18	79943321	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.21599610917379E-5	0.0
18	77703322	C	A	18	79943322	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.79753441876136E-4	0.0
18	77703322	C	G	18	79943322	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.2370764865935E-4	0.01
18	77703322	C	T	18	79943322	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.24154420032492E-4	0.0
18	77703323	A	C	18	79943323	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0318702554619132	0.526
18	77703323	A	G	18	79943323	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.160570217902626	0.576
18	77703323	A	T	18	79943323	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.136449807568665	0.542
18	77703324	C	A	18	79943324	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999970804755402	0.992
18	77703324	C	G	18	79943324	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.99995203925236	0.992
18	77703324	C	T	18	79943324	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999916077409591	0.966
18	77703325	C	A	18	79943325	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00245735876347764	0.084
18	77703325	C	G	18	79943325	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	9.59812205831979E-4	0.15
18	77703325	C	T	18	79943325	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.92398499755232E-4	0.126
18	77703326	A	C	18	79943326	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.95444478489103E-5	0.254
18	77703326	A	G	18	79943326	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	9.01147962516231E-5	0.052
18	77703326	A	T	18	79943326	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.54011173426077E-5	0.024
18	77703327	A	C	18	79943327	y	y	splicing	PQLC1(NM_001146345:exon4:c.337+2T>G;NM_001146343:exon4:c.337+2T>G;NM_025078:exon4:c.337+2T>G)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.337+2T>G;ENST00000357575:exon4:c.337+2T>G;ENST00000409073:exon4:c.88+2T>G;ENST00000351365:exon4:c.380+2T>G;ENST00000474967:exon5:c.474+2T>G;ENST00000590381:exon4:c.337+2T>G;ENST00000591964:exon5:c.455+2T>G;ENST00000478144:exon4:c.352+2T>G;ENST00000593030:exon4:c.337+2T>G;ENST00000589452:exon5:c.474+2T>G)	.	.	0.999957711392063	0.958
18	77703327	A	G	18	79943327	y	y	splicing	PQLC1(NM_001146345:exon4:c.337+2T>C;NM_001146343:exon4:c.337+2T>C;NM_025078:exon4:c.337+2T>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.337+2T>C;ENST00000357575:exon4:c.337+2T>C;ENST00000409073:exon4:c.88+2T>C;ENST00000351365:exon4:c.380+2T>C;ENST00000474967:exon5:c.474+2T>C;ENST00000590381:exon4:c.337+2T>C;ENST00000591964:exon5:c.455+2T>C;ENST00000478144:exon4:c.352+2T>C;ENST00000593030:exon4:c.337+2T>C;ENST00000589452:exon5:c.474+2T>C)	.	.	0.966340538858848	0.658
18	77703327	A	T	18	79943327	y	y	splicing	PQLC1(NM_001146345:exon4:c.337+2T>A;NM_001146343:exon4:c.337+2T>A;NM_025078:exon4:c.337+2T>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.337+2T>A;ENST00000357575:exon4:c.337+2T>A;ENST00000409073:exon4:c.88+2T>A;ENST00000351365:exon4:c.380+2T>A;ENST00000474967:exon5:c.474+2T>A;ENST00000590381:exon4:c.337+2T>A;ENST00000591964:exon5:c.455+2T>A;ENST00000478144:exon4:c.352+2T>A;ENST00000593030:exon4:c.337+2T>A;ENST00000589452:exon5:c.474+2T>A)	.	.	0.999957711392063	0.96
18	77703328	C	A	18	79943328	y	y	splicing	PQLC1(NM_001146345:exon4:c.337+1G>T;NM_001146343:exon4:c.337+1G>T;NM_025078:exon4:c.337+1G>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.337+1G>T;ENST00000357575:exon4:c.337+1G>T;ENST00000409073:exon4:c.88+1G>T;ENST00000351365:exon4:c.380+1G>T;ENST00000474967:exon5:c.474+1G>T;ENST00000590381:exon4:c.337+1G>T;ENST00000591964:exon5:c.455+1G>T;ENST00000478144:exon4:c.352+1G>T;ENST00000593030:exon4:c.337+1G>T;ENST00000589452:exon5:c.474+1G>T)	.	.	0.999964993890792	0.948
18	77703328	C	G	18	79943328	y	y	splicing	PQLC1(NM_001146345:exon4:c.337+1G>C;NM_001146343:exon4:c.337+1G>C;NM_025078:exon4:c.337+1G>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.337+1G>C;ENST00000357575:exon4:c.337+1G>C;ENST00000409073:exon4:c.88+1G>C;ENST00000351365:exon4:c.380+1G>C;ENST00000474967:exon5:c.474+1G>C;ENST00000590381:exon4:c.337+1G>C;ENST00000591964:exon5:c.455+1G>C;ENST00000478144:exon4:c.352+1G>C;ENST00000593030:exon4:c.337+1G>C;ENST00000589452:exon5:c.474+1G>C)	.	.	0.999965316651096	0.952
18	77703328	C	T	18	79943328	y	y	splicing	PQLC1(NM_001146345:exon4:c.337+1G>A;NM_001146343:exon4:c.337+1G>A;NM_025078:exon4:c.337+1G>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.337+1G>A;ENST00000357575:exon4:c.337+1G>A;ENST00000409073:exon4:c.88+1G>A;ENST00000351365:exon4:c.380+1G>A;ENST00000474967:exon5:c.474+1G>A;ENST00000590381:exon4:c.337+1G>A;ENST00000591964:exon5:c.455+1G>A;ENST00000478144:exon4:c.352+1G>A;ENST00000593030:exon4:c.337+1G>A;ENST00000589452:exon5:c.474+1G>A)	.	.	0.999964993890792	0.948
18	77703329	C	A	18	79943329	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.G337T:p.A113S;PQLC1:NM_001146345:exon3:c.G337T:p.D113Y;PQLC1:NM_001146343:exon3:c.G337T:p.A113S;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.G337T:p.A113S;ENSG00000122490:ENST00000397778:exon3:c.G337T:p.A113S;ENSG00000122490:ENST00000590381:exon3:c.G337T:p.A113S;ENSG00000122490:ENST00000409073:exon3:c.G88T:p.A30S;ENSG00000122490:ENST00000478144:exon3:c.G352T:p.D118Y;ENSG00000122490:ENST00000357575:exon3:c.G337T:p.D113Y;	0.999968514173969	0.998
18	77703329	C	G	18	79943329	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.G337C:p.A113P;PQLC1:NM_001146345:exon3:c.G337C:p.D113H;PQLC1:NM_001146343:exon3:c.G337C:p.A113P;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.G337C:p.A113P;ENSG00000122490:ENST00000397778:exon3:c.G337C:p.A113P;ENSG00000122490:ENST00000590381:exon3:c.G337C:p.A113P;ENSG00000122490:ENST00000409073:exon3:c.G88C:p.A30P;ENSG00000122490:ENST00000478144:exon3:c.G352C:p.D118H;ENSG00000122490:ENST00000357575:exon3:c.G337C:p.D113H;	0.999998122414291	1.0
18	77703329	C	T	18	79943329	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.G337A:p.A113T;PQLC1:NM_001146345:exon3:c.G337A:p.D113N;PQLC1:NM_001146343:exon3:c.G337A:p.A113T;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.G337A:p.A113T;ENSG00000122490:ENST00000397778:exon3:c.G337A:p.A113T;ENSG00000122490:ENST00000590381:exon3:c.G337A:p.A113T;ENSG00000122490:ENST00000409073:exon3:c.G88A:p.A30T;ENSG00000122490:ENST00000478144:exon3:c.G352A:p.D118N;ENSG00000122490:ENST00000357575:exon3:c.G337A:p.D113N;	0.999996038822824	1.0
18	77703330	T	A	18	79943330	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon3:c.A336T:p.T112T;PQLC1:NM_001146345:exon3:c.A336T:p.T112T;PQLC1:NM_001146343:exon3:c.A336T:p.T112T;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.A336T:p.T112T;ENSG00000122490:ENST00000397778:exon3:c.A336T:p.T112T;ENSG00000122490:ENST00000590381:exon3:c.A336T:p.T112T;ENSG00000122490:ENST00000409073:exon3:c.A87T:p.T29T;ENSG00000122490:ENST00000478144:exon3:c.A351T:p.T117T;ENSG00000122490:ENST00000357575:exon3:c.A336T:p.T112T;	0.99870052743887	0.768
18	77703330	T	C	18	79943330	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon3:c.A336G:p.T112T;PQLC1:NM_001146345:exon3:c.A336G:p.T112T;PQLC1:NM_001146343:exon3:c.A336G:p.T112T;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.A336G:p.T112T;ENSG00000122490:ENST00000397778:exon3:c.A336G:p.T112T;ENSG00000122490:ENST00000590381:exon3:c.A336G:p.T112T;ENSG00000122490:ENST00000409073:exon3:c.A87G:p.T29T;ENSG00000122490:ENST00000478144:exon3:c.A351G:p.T117T;ENSG00000122490:ENST00000357575:exon3:c.A336G:p.T112T;	0.992705234863614	0.766
18	77703330	T	G	18	79943330	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon3:c.A336C:p.T112T;PQLC1:NM_001146345:exon3:c.A336C:p.T112T;PQLC1:NM_001146343:exon3:c.A336C:p.T112T;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.A336C:p.T112T;ENSG00000122490:ENST00000397778:exon3:c.A336C:p.T112T;ENSG00000122490:ENST00000590381:exon3:c.A336C:p.T112T;ENSG00000122490:ENST00000409073:exon3:c.A87C:p.T29T;ENSG00000122490:ENST00000478144:exon3:c.A351C:p.T117T;ENSG00000122490:ENST00000357575:exon3:c.A336C:p.T112T;	0.995897933628856	0.78
18	77703331	G	A	18	79943331	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.C335T:p.T112I;PQLC1:NM_001146345:exon3:c.C335T:p.T112I;PQLC1:NM_001146343:exon3:c.C335T:p.T112I;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.C335T:p.T112I;ENSG00000122490:ENST00000397778:exon3:c.C335T:p.T112I;ENSG00000122490:ENST00000590381:exon3:c.C335T:p.T112I;ENSG00000122490:ENST00000409073:exon3:c.C86T:p.T29I;ENSG00000122490:ENST00000478144:exon3:c.C350T:p.T117I;ENSG00000122490:ENST00000357575:exon3:c.C335T:p.T112I;	0.98421907229343	0.65
18	77703331	G	C	18	79943331	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.C335G:p.T112R;PQLC1:NM_001146345:exon3:c.C335G:p.T112R;PQLC1:NM_001146343:exon3:c.C335G:p.T112R;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.C335G:p.T112R;ENSG00000122490:ENST00000397778:exon3:c.C335G:p.T112R;ENSG00000122490:ENST00000590381:exon3:c.C335G:p.T112R;ENSG00000122490:ENST00000409073:exon3:c.C86G:p.T29R;ENSG00000122490:ENST00000478144:exon3:c.C350G:p.T117R;ENSG00000122490:ENST00000357575:exon3:c.C335G:p.T112R;	0.00259849515146323	0.122
18	77703331	G	T	18	79943331	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.C335A:p.T112K;PQLC1:NM_001146345:exon3:c.C335A:p.T112K;PQLC1:NM_001146343:exon3:c.C335A:p.T112K;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.C335A:p.T112K;ENSG00000122490:ENST00000397778:exon3:c.C335A:p.T112K;ENSG00000122490:ENST00000590381:exon3:c.C335A:p.T112K;ENSG00000122490:ENST00000409073:exon3:c.C86A:p.T29K;ENSG00000122490:ENST00000478144:exon3:c.C350A:p.T117K;ENSG00000122490:ENST00000357575:exon3:c.C335A:p.T112K;	0.00397782398938019	0.142
18	77703461	A	C	18	79943461	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.T205G:p.F69V;PQLC1:NM_001146345:exon3:c.T205G:p.F69V;PQLC1:NM_001146343:exon3:c.T205G:p.F69V;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.T205G:p.F69V;ENSG00000122490:ENST00000397778:exon3:c.T205G:p.F69V;ENSG00000122490:ENST00000590381:exon3:c.T205G:p.F69V;ENSG00000122490:ENST00000478144:exon3:c.T220G:p.F74V;ENSG00000122490:ENST00000357575:exon3:c.T205G:p.F69V;	0.549775981852448	0.438
18	77703461	A	G	18	79943461	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.T205C:p.F69L;PQLC1:NM_001146345:exon3:c.T205C:p.F69L;PQLC1:NM_001146343:exon3:c.T205C:p.F69L;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.T205C:p.F69L;ENSG00000122490:ENST00000397778:exon3:c.T205C:p.F69L;ENSG00000122490:ENST00000590381:exon3:c.T205C:p.F69L;ENSG00000122490:ENST00000478144:exon3:c.T220C:p.F74L;ENSG00000122490:ENST00000357575:exon3:c.T205C:p.F69L;	0.575233746407432	0.43
18	77703461	A	T	18	79943461	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.T205A:p.F69I;PQLC1:NM_001146345:exon3:c.T205A:p.F69I;PQLC1:NM_001146343:exon3:c.T205A:p.F69I;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.T205A:p.F69I;ENSG00000122490:ENST00000397778:exon3:c.T205A:p.F69I;ENSG00000122490:ENST00000590381:exon3:c.T205A:p.F69I;ENSG00000122490:ENST00000478144:exon3:c.T220A:p.F74I;ENSG00000122490:ENST00000357575:exon3:c.T205A:p.F69I;	0.550514834070394	0.422
18	77703462	C	A	18	79943462	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.G204T:p.W68C;PQLC1:NM_001146345:exon3:c.G204T:p.W68C;PQLC1:NM_001146343:exon3:c.G204T:p.W68C;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.G204T:p.W68C;ENSG00000122490:ENST00000397778:exon3:c.G204T:p.W68C;ENSG00000122490:ENST00000590381:exon3:c.G204T:p.W68C;ENSG00000122490:ENST00000478144:exon3:c.G219T:p.R73S;ENSG00000122490:ENST00000357575:exon3:c.G204T:p.W68C;	0.99108440817166	0.868
18	77703462	C	G	18	79943462	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon3:c.G204C:p.W68C;PQLC1:NM_001146345:exon3:c.G204C:p.W68C;PQLC1:NM_001146343:exon3:c.G204C:p.W68C;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000593030:exon3:c.G204C:p.W68C;ENSG00000122490:ENST00000397778:exon3:c.G204C:p.W68C;ENSG00000122490:ENST00000590381:exon3:c.G204C:p.W68C;ENSG00000122490:ENST00000478144:exon3:c.G219C:p.R73S;ENSG00000122490:ENST00000357575:exon3:c.G204C:p.W68C;	0.989092525821461	0.866
18	77703462	C	T	18	79943462	y	y	exonic	PQLC1	stopgain SNV	PQLC1:NM_025078:exon3:c.G204A:p.W68X;PQLC1:NM_001146345:exon3:c.G204A:p.W68X;PQLC1:NM_001146343:exon3:c.G204A:p.W68X;	exonic	ENSG00000122490	stopgain SNV	ENSG00000122490:ENST00000593030:exon3:c.G204A:p.W68X;ENSG00000122490:ENST00000397778:exon3:c.G204A:p.W68X;ENSG00000122490:ENST00000590381:exon3:c.G204A:p.W68X;ENSG00000122490:ENST00000357575:exon3:c.G204A:p.W68X;	0.999451039546573	0.844
18	77703463	C	A	18	79943463	y	y	splicing	PQLC1(NM_001146345:exon4:c.204-1G>T;NM_001146343:exon4:c.204-1G>T;NM_025078:exon4:c.204-1G>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.204-1G>T;ENST00000357575:exon4:c.204-1G>T;ENST00000351365:exon4:c.247-1G>T;ENST00000474967:exon5:c.341-1G>T;ENST00000590381:exon4:c.204-1G>T;ENST00000591964:exon5:c.322-1G>T;ENST00000478144:exon4:c.219-1G>T;ENST00000593030:exon4:c.204-1G>T;ENST00000589452:exon5:c.341-1G>T)	.	.	0.99995586615188	0.94
18	77703463	C	G	18	79943463	y	y	splicing	PQLC1(NM_001146345:exon4:c.204-1G>C;NM_001146343:exon4:c.204-1G>C;NM_025078:exon4:c.204-1G>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.204-1G>C;ENST00000357575:exon4:c.204-1G>C;ENST00000351365:exon4:c.247-1G>C;ENST00000474967:exon5:c.341-1G>C;ENST00000590381:exon4:c.204-1G>C;ENST00000591964:exon5:c.322-1G>C;ENST00000478144:exon4:c.219-1G>C;ENST00000593030:exon4:c.204-1G>C;ENST00000589452:exon5:c.341-1G>C)	.	.	0.999971209564868	0.938
18	77703463	C	T	18	79943463	y	y	splicing	PQLC1(NM_001146345:exon4:c.204-1G>A;NM_001146343:exon4:c.204-1G>A;NM_025078:exon4:c.204-1G>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.204-1G>A;ENST00000357575:exon4:c.204-1G>A;ENST00000351365:exon4:c.247-1G>A;ENST00000474967:exon5:c.341-1G>A;ENST00000590381:exon4:c.204-1G>A;ENST00000591964:exon5:c.322-1G>A;ENST00000478144:exon4:c.219-1G>A;ENST00000593030:exon4:c.204-1G>A;ENST00000589452:exon5:c.341-1G>A)	.	.	0.99995586615188	0.932
18	77703464	T	A	18	79943464	y	y	splicing	PQLC1(NM_001146345:exon4:c.204-2A>T;NM_001146343:exon4:c.204-2A>T;NM_025078:exon4:c.204-2A>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.204-2A>T;ENST00000357575:exon4:c.204-2A>T;ENST00000351365:exon4:c.247-2A>T;ENST00000474967:exon5:c.341-2A>T;ENST00000590381:exon4:c.204-2A>T;ENST00000591964:exon5:c.322-2A>T;ENST00000478144:exon4:c.219-2A>T;ENST00000593030:exon4:c.204-2A>T;ENST00000589452:exon5:c.341-2A>T)	.	.	0.999964896440643	0.934
18	77703464	T	C	18	79943464	y	y	splicing	PQLC1(NM_001146345:exon4:c.204-2A>G;NM_001146343:exon4:c.204-2A>G;NM_025078:exon4:c.204-2A>G)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.204-2A>G;ENST00000357575:exon4:c.204-2A>G;ENST00000351365:exon4:c.247-2A>G;ENST00000474967:exon5:c.341-2A>G;ENST00000590381:exon4:c.204-2A>G;ENST00000591964:exon5:c.322-2A>G;ENST00000478144:exon4:c.219-2A>G;ENST00000593030:exon4:c.204-2A>G;ENST00000589452:exon5:c.341-2A>G)	.	.	0.999951957019574	0.896
18	77703464	T	G	18	79943464	y	y	splicing	PQLC1(NM_001146345:exon4:c.204-2A>C;NM_001146343:exon4:c.204-2A>C;NM_025078:exon4:c.204-2A>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon4:c.204-2A>C;ENST00000357575:exon4:c.204-2A>C;ENST00000351365:exon4:c.247-2A>C;ENST00000474967:exon5:c.341-2A>C;ENST00000590381:exon4:c.204-2A>C;ENST00000591964:exon5:c.322-2A>C;ENST00000478144:exon4:c.219-2A>C;ENST00000593030:exon4:c.204-2A>C;ENST00000589452:exon5:c.341-2A>C)	.	.	0.999951957019574	0.878
18	77703465	G	A	18	79943465	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00161562832821452	0.058
18	77703465	G	C	18	79943465	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999753085079092	0.938
18	77703465	G	T	18	79943465	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.896534605362943	0.69
18	77703466	C	A	18	79943466	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.30550297327852E-5	0.004
18	77703466	C	G	18	79943466	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.59904960534637E-6	0.008
18	77703466	C	T	18	79943466	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.37300363249047E-5	0.0
18	77703467	G	A	18	79943467	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.82537194544366E-5	0.0
18	77703467	G	C	18	79943467	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0053467036242724	0.06
18	77703467	G	T	18	79943467	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999890008736353	0.962
18	77703468	G	A	18	79943468	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.94644593281503E-4	0.098
18	77703468	G	C	18	79943468	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.012460766493054	0.16
18	77703468	G	T	18	79943468	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0123278031125973	0.162
18	77703469	G	A	18	79943469	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.71070102307411E-5	0.004
18	77703469	G	C	18	79943469	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00120058432547174	0.042
18	77703469	G	T	18	79943469	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00178524531496641	0.05
18	77703470	A	C	18	79943470	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.34092026683212E-4	0.054
18	77703470	A	G	18	79943470	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.73580083054096E-6	0.0
18	77703470	A	T	18	79943470	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.15179073725092E-4	0.06
18	77703471	G	A	18	79943471	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.71057730816679E-5	0.0
18	77703471	G	C	18	79943471	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.71874360048495E-4	0.032
18	77703471	G	T	18	79943471	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00110298632877989	0.062
18	77703472	A	C	18	79943472	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.00028995805213E-4	0.12
18	77703472	A	G	18	79943472	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.62307402358865E-4	0.026
18	77703472	A	T	18	79943472	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00113200796805279	0.158
18	77703473	G	A	18	79943473	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.47640264056894E-5	0.002
18	77703473	G	C	18	79943473	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.32316393395762E-4	0.044
18	77703473	G	T	18	79943473	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.010017509302093	0.064
18	77703474	A	C	18	79943474	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00286608770852493	0.184
18	77703474	A	G	18	79943474	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.4906121673761E-4	0.046
18	77703474	A	T	18	79943474	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00455289682623081	0.208
18	77707259	G	A	18	79947259	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.29172098833992E-5	0.01
18	77707259	G	C	18	79947259	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.29172098833992E-5	0.01
18	77707259	G	T	18	79947259	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.29172098833992E-5	0.01
18	77707260	C	A	18	79947260	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.59802355779309E-5	0.002
18	77707260	C	G	18	79947260	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.59802355779309E-5	0.002
18	77707260	C	T	18	79947260	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.59802355779309E-5	0.002
18	77707261	A	C	18	79947261	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.77382407657072E-5	0.002
18	77707261	A	G	18	79947261	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.77382407657072E-5	0.002
18	77707261	A	T	18	79947261	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.29994972594758E-5	0.006
18	77707262	C	A	18	79947262	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.46522264953722E-5	0.002
18	77707262	C	G	18	79947262	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.46522264953722E-5	0.002
18	77707262	C	T	18	79947262	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.46522264953722E-5	0.002
18	77707263	C	A	18	79947263	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	9.48161896632544E-4	0.052
18	77707263	C	G	18	79947263	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	9.48161896632544E-4	0.028
18	77707263	C	T	18	79947263	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.09213309395859E-4	0.04
18	77707264	A	C	18	79947264	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.9635955398612E-5	0.01
18	77707264	A	G	18	79947264	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.9635955398612E-5	0.01
18	77707264	A	T	18	79947264	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.96404089075045E-5	0.004
18	77707265	A	C	18	79947265	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.218+2T>G)	.	.	4.64726965068443E-5	0.002
18	77707265	A	G	18	79947265	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.218+2T>C)	.	.	4.64726965068443E-5	0.002
18	77707265	A	T	18	79947265	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.218+2T>A)	.	.	8.44656497212392E-5	0.004
18	77707266	C	A	18	79947266	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.218+1G>T)	.	.	2.80332477406426E-5	0.0
18	77707266	C	G	18	79947266	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.218+1G>C)	.	.	2.59802355779309E-5	0.0
18	77707266	C	T	18	79947266	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.218+1G>A)	.	.	2.80332477406426E-5	0.004
18	77707267	C	A	18	79947267	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.G218T:p.R73M;	1.46004206284423E-5	0.0
18	77707267	C	G	18	79947267	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.G218C:p.R73T;	1.46004206284423E-5	0.0
18	77707267	C	T	18	79947267	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.G218A:p.R73K;	1.46004206284423E-5	0.0
18	77707268	T	A	18	79947268	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.A217T:p.R73W;	3.78864525412067E-5	0.0
18	77707268	T	C	18	79947268	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.A217G:p.R73G;	3.78864525412067E-5	0.0
18	77707268	T	G	18	79947268	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.A217C:p.R73R;	3.78864525412067E-5	0.0
18	77707269	G	A	18	79947269	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.C216T:p.G72G;	3.07620641825897E-5	0.0
18	77707269	G	C	18	79947269	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.C216G:p.G72G;	3.07620641825897E-5	0.0
18	77707269	G	T	18	79947269	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.C216A:p.G72G;	3.07620641825897E-5	0.0
18	77707340	G	A	18	79947340	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.C145T:p.P49S;	2.1548255067557E-5	0.0
18	77707340	G	C	18	79947340	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.C145G:p.P49A;	2.1548255067557E-5	0.0
18	77707340	G	T	18	79947340	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.C145A:p.P49T;	2.1548255067557E-5	0.0
18	77707341	A	C	18	79947341	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.T144G:p.C48W;	7.33852833132947E-5	0.006
18	77707341	A	G	18	79947341	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000478144:exon2:c.T144C:p.C48C;	7.33852833132947E-5	0.006
18	77707341	A	T	18	79947341	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	stopgain SNV	ENSG00000122490:ENST00000478144:exon2:c.T144A:p.C48X;	5.4879169611527E-5	0.01
18	77707342	C	A	18	79947342	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.144-1G>T)	.	.	3.07620641825897E-5	0.022
18	77707342	C	G	18	79947342	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.144-1G>C)	.	.	1.99153316237132E-5	0.0
18	77707342	C	T	18	79947342	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.144-1G>A)	.	.	3.07620641825897E-5	0.0
18	77707343	T	A	18	79947343	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.144-2A>T)	.	.	3.0180149904064E-5	0.0
18	77707343	T	C	18	79947343	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.144-2A>G)	.	.	1.27145488438373E-5	0.0
18	77707343	T	G	18	79947343	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000478144:exon3:c.144-2A>C)	.	.	1.27145488438373E-5	0.0
18	77707344	G	A	18	79947344	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.42005417025298E-5	0.004
18	77707344	G	C	18	79947344	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.35379928190213E-5	0.002
18	77707344	G	T	18	79947344	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.35379928190213E-5	0.004
18	77707345	T	A	18	79947345	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.04243866858565E-5	0.0
18	77707345	T	C	18	79947345	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.04243866858565E-5	0.022
18	77707345	T	G	18	79947345	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.04243866858565E-5	0.004
18	77707346	A	C	18	79947346	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.62124376226042E-4	0.132
18	77707346	A	G	18	79947346	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.62124376226042E-4	0.132
18	77707346	A	T	18	79947346	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.70824495134334E-4	0.066
18	77707347	A	C	18	79947347	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.17833868802641E-5	0.0
18	77707347	A	G	18	79947347	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.17833868802641E-5	0.0
18	77707347	A	T	18	79947347	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.27145488438373E-5	0.0
18	77707348	G	A	18	79947348	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.29086443542005E-5	0.0
18	77707348	G	C	18	79947348	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.29086443542005E-5	0.0
18	77707348	G	T	18	79947348	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.29086443542005E-5	0.0
18	77707349	A	C	18	79947349	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.9635955398612E-5	0.008
18	77707349	A	G	18	79947349	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.9635955398612E-5	0.008
18	77707349	A	T	18	79947349	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.9635955398612E-5	0.01
18	77707350	A	C	18	79947350	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.87698428322107E-5	0.004
18	77707350	A	G	18	79947350	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.87698428322107E-5	0.004
18	77707350	A	T	18	79947350	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.87698428322107E-5	0.002
18	77707351	A	C	18	79947351	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.02642503822698E-5	0.012
18	77707351	A	G	18	79947351	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.02642503822698E-5	0.012
18	77707351	A	T	18	79947351	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.02642503822698E-5	0.01
18	77707352	C	A	18	79947352	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.00675832680685E-4	0.0
18	77707352	C	G	18	79947352	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.00675832680685E-4	0.0
18	77707352	C	T	18	79947352	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.00675832680685E-4	0.006
18	77707353	A	C	18	79947353	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.35349562609164E-5	0.0
18	77707353	A	G	18	79947353	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.35349562609164E-5	0.0
18	77707353	A	T	18	79947353	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.86075475573093E-5	0.0
18	77709511	A	C	18	79949511	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709511	A	G	18	79949511	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709511	A	T	18	79949511	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709512	A	C	18	79949512	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709512	A	G	18	79949512	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709512	A	T	18	79949512	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709513	A	C	18	79949513	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.13503796622452E-5	0.014
18	77709513	A	G	18	79949513	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.13503796622452E-5	0.014
18	77709513	A	T	18	79949513	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.13503796622452E-5	0.014
18	77709514	A	C	18	79949514	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.81587647171574E-5	0.008
18	77709514	A	G	18	79949514	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.81587647171574E-5	0.008
18	77709514	A	T	18	79949514	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.81587647171574E-5	0.008
18	77709515	T	A	18	79949515	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709515	T	C	18	79949515	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709515	T	G	18	79949515	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709516	T	A	18	79949516	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709516	T	C	18	79949516	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709516	T	G	18	79949516	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709517	A	C	18	79949517	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.340+2T>G;ENST00000591964:exon4:c.321+2T>G;ENST00000589452:exon4:c.340+2T>G)	.	.	4.81587647171574E-5	0.01
18	77709517	A	G	18	79949517	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.340+2T>C;ENST00000591964:exon4:c.321+2T>C;ENST00000589452:exon4:c.340+2T>C)	.	.	4.81587647171574E-5	0.01
18	77709517	A	T	18	79949517	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.340+2T>A;ENST00000591964:exon4:c.321+2T>A;ENST00000589452:exon4:c.340+2T>A)	.	.	1.14307475062501E-4	0.014
18	77709518	C	A	18	79949518	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.340+1G>T;ENST00000591964:exon4:c.321+1G>T;ENST00000589452:exon4:c.340+1G>T)	.	.	1.99153316237132E-5	0.0
18	77709518	C	G	18	79949518	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.340+1G>C;ENST00000591964:exon4:c.321+1G>C;ENST00000589452:exon4:c.340+1G>C)	.	.	1.99153316237132E-5	0.0
18	77709518	C	T	18	79949518	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.340+1G>A;ENST00000591964:exon4:c.321+1G>A;ENST00000589452:exon4:c.340+1G>A)	.	.	1.99153316237132E-5	0.0
18	77709519	C	A	18	79949519	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709519	C	G	18	79949519	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709519	C	T	18	79949519	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709520	T	A	18	79949520	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709520	T	C	18	79949520	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709520	T	G	18	79949520	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709521	G	A	18	79949521	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.4631346304159E-5	0.004
18	77709521	G	C	18	79949521	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.4631346304159E-5	0.004
18	77709521	G	T	18	79949521	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.4631346304159E-5	0.004
18	77709635	G	A	18	79949635	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000591964:exon3:c.C205T:p.L69L;	2.64191646885158E-5	0.008
18	77709635	G	C	18	79949635	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000591964:exon3:c.C205G:p.L69V;	2.64191646885158E-5	0.012
18	77709635	G	T	18	79949635	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000591964:exon3:c.C205A:p.L69M;	2.64191646885158E-5	0.008
18	77709636	C	A	18	79949636	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000591964:exon3:c.G204T:p.W68C;	2.4631346304159E-5	0.034
18	77709636	C	G	18	79949636	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000591964:exon3:c.G204C:p.W68C;	2.4631346304159E-5	0.034
18	77709636	C	T	18	79949636	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	stopgain SNV	ENSG00000122490:ENST00000591964:exon3:c.G204A:p.W68X;	2.4631346304159E-5	0.034
18	77709637	C	A	18	79949637	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon4:c.204-1G>T)	.	.	2.64191646885158E-5	0.008
18	77709637	C	G	18	79949637	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon4:c.204-1G>C)	.	.	2.64191646885158E-5	0.012
18	77709637	C	T	18	79949637	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon4:c.204-1G>A)	.	.	2.64191646885158E-5	0.008
18	77709638	T	A	18	79949638	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon4:c.204-2A>T)	.	.	9.57123356397867E-5	0.014
18	77709638	T	C	18	79949638	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon4:c.204-2A>G)	.	.	9.57123356397867E-5	0.014
18	77709638	T	G	18	79949638	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000591964:exon4:c.204-2A>C)	.	.	9.57123356397867E-5	0.014
18	77709639	G	A	18	79949639	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	9.57123356397867E-5	0.012
18	77709639	G	C	18	79949639	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	6.19654958573966E-5	0.018
18	77709639	G	T	18	79949639	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	6.19654958573966E-5	0.01
18	77709640	G	A	18	79949640	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.59660858139777E-5	0.0
18	77709640	G	C	18	79949640	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.59660858139777E-5	0.0
18	77709640	G	T	18	79949640	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.59660858139777E-5	0.0
18	77709641	C	A	18	79949641	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.01
18	77709641	C	G	18	79949641	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.012
18	77709641	C	T	18	79949641	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.008
18	77709642	G	A	18	79949642	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.59660858139777E-5	0.004
18	77709642	G	C	18	79949642	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.59660858139777E-5	0.004
18	77709642	G	T	18	79949642	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.59660858139777E-5	0.004
18	77709643	A	C	18	79949643	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709643	A	G	18	79949643	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709643	A	T	18	79949643	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709644	C	A	18	79949644	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.45277156108894E-5	0.002
18	77709644	C	G	18	79949644	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.45277156108894E-5	0.002
18	77709644	C	T	18	79949644	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.45277156108894E-5	0.002
18	77709645	A	C	18	79949645	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	4.81587647171574E-5	0.008
18	77709645	A	G	18	79949645	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	4.81587647171574E-5	0.008
18	77709645	A	T	18	79949645	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	4.81587647171574E-5	0.01
18	77709646	G	A	18	79949646	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.008
18	77709646	G	C	18	79949646	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.012
18	77709646	G	T	18	79949646	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.01
18	77709647	A	C	18	79949647	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.88014054966508E-5	0.002
18	77709647	A	G	18	79949647	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.88014054966508E-5	0.002
18	77709647	A	T	18	79949647	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.88014054966508E-5	0.002
18	77709648	G	A	18	79949648	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.008
18	77709648	G	C	18	79949648	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.012
18	77709648	G	T	18	79949648	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	2.64191646885158E-5	0.01
18	77709654	C	A	18	79949654	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709654	C	G	18	79949654	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709654	C	T	18	79949654	n	y	intronic	PQLC1	.	.	UTR3	ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709655	T	A	18	79949655	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	stoploss SNV	ENSG00000122490:ENST00000589452:exon3:c.A204T:p.X68C;ENSG00000122490:ENST00000474967:exon3:c.A204T:p.X68C;	3.07620641825897E-5	0.0
18	77709655	T	C	18	79949655	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	stoploss SNV	ENSG00000122490:ENST00000589452:exon3:c.A204G:p.X68W;ENSG00000122490:ENST00000474967:exon3:c.A204G:p.X68W;	3.07620641825897E-5	0.0
18	77709655	T	G	18	79949655	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	stoploss SNV	ENSG00000122490:ENST00000589452:exon3:c.A204C:p.X68C;ENSG00000122490:ENST00000474967:exon3:c.A204C:p.X68C;	3.07620641825897E-5	0.0
18	77709656	C	A	18	79949656	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.204-1G>T;ENST00000589452:exon4:c.204-1G>T)	.	.	9.57123356397867E-5	0.008
18	77709656	C	G	18	79949656	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.204-1G>C;ENST00000589452:exon4:c.204-1G>C)	.	.	9.57123356397867E-5	0.012
18	77709656	C	T	18	79949656	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.204-1G>A;ENST00000589452:exon4:c.204-1G>A)	.	.	9.57123356397867E-5	0.008
18	77709657	T	A	18	79949657	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.204-2A>T;ENST00000589452:exon4:c.204-2A>T)	.	.	9.57123356397867E-5	0.012
18	77709657	T	C	18	79949657	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.204-2A>G;ENST00000589452:exon4:c.204-2A>G)	.	.	9.57123356397867E-5	0.014
18	77709657	T	G	18	79949657	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000474967:exon4:c.204-2A>C;ENST00000589452:exon4:c.204-2A>C)	.	.	9.57123356397867E-5	0.014
18	77709658	G	A	18	79949658	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.19654958573966E-5	0.016
18	77709658	G	C	18	79949658	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.19654958573966E-5	0.014
18	77709658	G	T	18	79949658	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.19654958573966E-5	0.014
18	77709659	T	A	18	79949659	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.45277156108894E-5	0.002
18	77709659	T	C	18	79949659	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.45277156108894E-5	0.002
18	77709659	T	G	18	79949659	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.45277156108894E-5	0.002
18	77709660	C	A	18	79949660	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.19654958573966E-5	0.014
18	77709660	C	G	18	79949660	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.19654958573966E-5	0.014
18	77709660	C	T	18	79949660	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.19654958573966E-5	0.018
18	77709661	T	A	18	79949661	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.81587647171574E-5	0.008
18	77709661	T	C	18	79949661	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.81587647171574E-5	0.01
18	77709661	T	G	18	79949661	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.81587647171574E-5	0.01
18	77709662	C	A	18	79949662	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.71037163550947E-5	0.026
18	77709662	C	G	18	79949662	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.71037163550947E-5	0.022
18	77709662	C	T	18	79949662	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.71037163550947E-5	0.028
18	77709663	A	C	18	79949663	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.68804097905464E-5	0.01
18	77709663	A	G	18	79949663	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.68804097905464E-5	0.01
18	77709663	A	T	18	79949663	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709664	A	C	18	79949664	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709664	A	G	18	79949664	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709664	A	T	18	79949664	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709665	A	C	18	79949665	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.17380870795729E-5	0.02
18	77709665	A	G	18	79949665	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.17380870795729E-5	0.004
18	77709665	A	T	18	79949665	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.17380870795729E-5	0.0
18	77709666	A	C	18	79949666	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709666	A	G	18	79949666	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709666	A	T	18	79949666	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709667	A	C	18	79949667	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709667	A	G	18	79949667	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709667	A	T	18	79949667	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.01
18	77709679	A	C	18	79949679	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.02
18	77709679	A	G	18	79949679	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.02
18	77709679	A	T	18	79949679	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.60742385600787E-5	0.02
18	77709680	A	C	18	79949680	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.036
18	77709680	A	G	18	79949680	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.036
18	77709680	A	T	18	79949680	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.04
18	77709681	A	C	18	79949681	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.036
18	77709681	A	G	18	79949681	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.036
18	77709681	A	T	18	79949681	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.47800409892608E-4	0.04
18	77709682	C	A	18	79949682	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.33812420792874E-6	0.0
18	77709682	C	G	18	79949682	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.33812420792874E-6	0.0
18	77709682	C	T	18	79949682	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	8.33812420792874E-6	0.0
18	77709683	T	A	18	79949683	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.95735775412773E-5	0.008
18	77709683	T	C	18	79949683	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.26718658278921E-5	0.01
18	77709683	T	G	18	79949683	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.26718658278921E-5	0.01
18	77709684	A	C	18	79949684	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709684	A	G	18	79949684	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709684	A	T	18	79949684	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709685	A	C	18	79949685	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.246+2T>G)	.	.	3.18514214212084E-4	0.124
18	77709685	A	G	18	79949685	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.246+2T>C)	.	.	3.18514214212084E-4	0.24
18	77709685	A	T	18	79949685	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.246+2T>A)	.	.	2.38206837572038E-4	0.032
18	77709686	C	A	18	79949686	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.246+1G>T)	.	.	1.02692584556824E-5	0.0
18	77709686	C	G	18	79949686	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.246+1G>C)	.	.	1.02692584556824E-5	0.0
18	77709686	C	T	18	79949686	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.246+1G>A)	.	.	1.02692584556824E-5	0.0
18	77709687	A	C	18	79949687	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	1.16513864069796E-5	0.008
18	77709687	A	G	18	79949687	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	1.16513864069796E-5	0.008
18	77709687	A	T	18	79949687	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	1.16513864069796E-5	0.008
18	77709688	G	A	18	79949688	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	1.11430891997996E-5	0.0
18	77709688	G	C	18	79949688	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	1.11430891997996E-5	0.0
18	77709688	G	T	18	79949688	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	1.11430891997996E-5	0.0
18	77709689	G	A	18	79949689	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709689	G	C	18	79949689	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	1.99153316237132E-5	0.0
18	77709689	G	T	18	79949689	n	y	intronic	PQLC1	.	.	UTR5;UTR3	ENSG00000122490;ENSG00000122490	.	.	3.07620641825897E-5	0.0
18	77709837	G	A	18	79949837	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	unknown	UNKNOWN	1.46004206284423E-5	0.0
18	77709837	G	C	18	79949837	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	unknown	UNKNOWN	1.46004206284423E-5	0.0
18	77709837	G	T	18	79949837	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	unknown	UNKNOWN	1.46004206284423E-5	0.0
18	77709838	G	A	18	79949838	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	unknown	UNKNOWN	4.39765988491657E-5	0.008
18	77709838	G	C	18	79949838	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	unknown	UNKNOWN	9.41215694109E-6	0.0
18	77709838	G	T	18	79949838	n	y	intronic	PQLC1	.	.	exonic	ENSG00000122490	unknown	UNKNOWN	1.01559384236425E-5	0.002
18	77709839	C	A	18	79949839	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.95-1G>T)	.	.	2.45277156108894E-5	0.0
18	77709839	C	G	18	79949839	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.95-1G>C)	.	.	2.45277156108894E-5	0.0
18	77709839	C	T	18	79949839	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.95-1G>A)	.	.	2.45277156108894E-5	0.0
18	77709840	T	A	18	79949840	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.95-2A>T)	.	.	3.07620641825897E-5	0.002
18	77709840	T	C	18	79949840	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.95-2A>G)	.	.	3.07620641825897E-5	0.002
18	77709840	T	G	18	79949840	n	y	intronic	PQLC1	.	.	splicing	ENSG00000122490(ENST00000351365:exon3:c.95-2A>C)	.	.	3.07620641825897E-5	0.002
18	77709841	G	A	18	79949841	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.10275622159801E-5	0.0
18	77709841	G	C	18	79949841	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.10275622159801E-5	0.0
18	77709841	G	T	18	79949841	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.10275622159801E-5	0.0
18	77709842	G	A	18	79949842	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.63208194819379E-5	0.0
18	77709842	G	C	18	79949842	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.21962778979454E-5	0.0
18	77709842	G	T	18	79949842	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.21962778979454E-5	0.0
18	77709843	G	A	18	79949843	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.21962778979454E-5	0.0
18	77709843	G	C	18	79949843	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.21962778979454E-5	0.0
18	77709843	G	T	18	79949843	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.21962778979454E-5	0.0
18	77709844	A	C	18	79949844	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.95241758590049E-5	0.0
18	77709844	A	G	18	79949844	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.95241758590049E-5	0.0
18	77709844	A	T	18	79949844	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.95241758590049E-5	0.0
18	77709845	T	A	18	79949845	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.36389531769141E-5	0.004
18	77709845	T	C	18	79949845	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.36389531769141E-5	0.004
18	77709845	T	G	18	79949845	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.36389531769141E-5	0.004
18	77709846	C	A	18	79949846	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.49745092444763E-5	0.002
18	77709846	C	G	18	79949846	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.49745092444763E-5	0.024
18	77709846	C	T	18	79949846	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.49745092444763E-5	0.002
18	77709847	A	C	18	79949847	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.86075475573093E-5	0.0
18	77709847	A	G	18	79949847	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.86075475573093E-5	0.0
18	77709847	A	T	18	79949847	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.86075475573093E-5	0.0
18	77709848	C	A	18	79949848	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.23990001900786E-4	0.0
18	77709848	C	G	18	79949848	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.96543823885678E-5	0.002
18	77709848	C	T	18	79949848	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.23990001900786E-4	0.0
18	77709849	C	A	18	79949849	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.27456659313109E-5	0.0
18	77709849	C	G	18	79949849	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.27456659313109E-5	0.0
18	77709849	C	T	18	79949849	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.27456659313109E-5	0.0
18	77709850	C	A	18	79949850	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.34280463342776E-4	0.004
18	77709850	C	G	18	79949850	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.34280463342776E-4	0.004
18	77709850	C	T	18	79949850	n	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.34280463342776E-4	0.004
18	77710716	C	A	18	79950716	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.26047295734716E-4	0.0
18	77710716	C	G	18	79950716	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.26047295734716E-4	0.0
18	77710716	C	T	18	79950716	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.66310294384131E-4	0.006
18	77710717	A	C	18	79950717	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.08277387356249E-4	0.016
18	77710717	A	G	18	79950717	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.43675414372533E-5	0.014
18	77710717	A	T	18	79950717	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.87687715895595E-4	0.006
18	77710718	A	C	18	79950718	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00375874803606974	0.136
18	77710718	A	G	18	79950718	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0204761900878017	0.186
18	77710718	A	T	18	79950718	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00660656668689922	0.178
18	77710719	C	A	18	79950719	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.998796750140465	0.886
18	77710719	C	G	18	79950719	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.998833277280461	0.9
18	77710719	C	T	18	79950719	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999418176581048	0.924
18	77710720	T	A	18	79950720	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.991046685913866	0.658
18	77710720	T	C	18	79950720	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.989920700539989	0.666
18	77710720	T	G	18	79950720	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.976242577840175	0.516
18	77710721	T	A	18	79950721	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.570874831883966	0.39
18	77710721	T	C	18	79950721	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00412885379334778	0.106
18	77710721	T	G	18	79950721	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.633116296356209	0.394
18	77710722	A	C	18	79950722	y	y	splicing	PQLC1(NM_001146345:exon3:c.203+2T>G;NM_001146343:exon3:c.203+2T>G;NM_025078:exon3:c.203+2T>G)	.	.	splicing	ENSG00000122490(ENST00000397778:exon3:c.203+2T>G;ENST00000357575:exon3:c.203+2T>G;ENST00000351365:exon2:c.94+2T>G;ENST00000474967:exon3:c.203+2T>G;ENST00000590381:exon3:c.203+2T>G;ENST00000591964:exon3:c.203+2T>G;ENST00000478144:exon2:c.143+2T>G;ENST00000593030:exon3:c.203+2T>G;ENST00000589452:exon3:c.203+2T>G)	.	.	0.999993519952936	0.928
18	77710722	A	G	18	79950722	y	y	splicing	PQLC1(NM_001146345:exon3:c.203+2T>C;NM_001146343:exon3:c.203+2T>C;NM_025078:exon3:c.203+2T>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon3:c.203+2T>C;ENST00000357575:exon3:c.203+2T>C;ENST00000351365:exon2:c.94+2T>C;ENST00000474967:exon3:c.203+2T>C;ENST00000590381:exon3:c.203+2T>C;ENST00000591964:exon3:c.203+2T>C;ENST00000478144:exon2:c.143+2T>C;ENST00000593030:exon3:c.203+2T>C;ENST00000589452:exon3:c.203+2T>C)	.	.	0.993596150545159	0.594
18	77710722	A	T	18	79950722	y	y	splicing	PQLC1(NM_001146345:exon3:c.203+2T>A;NM_001146343:exon3:c.203+2T>A;NM_025078:exon3:c.203+2T>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon3:c.203+2T>A;ENST00000357575:exon3:c.203+2T>A;ENST00000351365:exon2:c.94+2T>A;ENST00000474967:exon3:c.203+2T>A;ENST00000590381:exon3:c.203+2T>A;ENST00000591964:exon3:c.203+2T>A;ENST00000478144:exon2:c.143+2T>A;ENST00000593030:exon3:c.203+2T>A;ENST00000589452:exon3:c.203+2T>A)	.	.	0.999993519952936	0.928
18	77710723	C	A	18	79950723	y	y	splicing	PQLC1(NM_001146345:exon3:c.203+1G>T;NM_001146343:exon3:c.203+1G>T;NM_025078:exon3:c.203+1G>T)	.	.	splicing	ENSG00000122490(ENST00000397778:exon3:c.203+1G>T;ENST00000357575:exon3:c.203+1G>T;ENST00000351365:exon2:c.94+1G>T;ENST00000474967:exon3:c.203+1G>T;ENST00000590381:exon3:c.203+1G>T;ENST00000591964:exon3:c.203+1G>T;ENST00000478144:exon2:c.143+1G>T;ENST00000593030:exon3:c.203+1G>T;ENST00000589452:exon3:c.203+1G>T)	.	.	0.999992446697775	0.934
18	77710723	C	G	18	79950723	y	y	splicing	PQLC1(NM_001146345:exon3:c.203+1G>C;NM_001146343:exon3:c.203+1G>C;NM_025078:exon3:c.203+1G>C)	.	.	splicing	ENSG00000122490(ENST00000397778:exon3:c.203+1G>C;ENST00000357575:exon3:c.203+1G>C;ENST00000351365:exon2:c.94+1G>C;ENST00000474967:exon3:c.203+1G>C;ENST00000590381:exon3:c.203+1G>C;ENST00000591964:exon3:c.203+1G>C;ENST00000478144:exon2:c.143+1G>C;ENST00000593030:exon3:c.203+1G>C;ENST00000589452:exon3:c.203+1G>C)	.	.	0.999992446697775	0.934
18	77710723	C	T	18	79950723	y	y	splicing	PQLC1(NM_001146345:exon3:c.203+1G>A;NM_001146343:exon3:c.203+1G>A;NM_025078:exon3:c.203+1G>A)	.	.	splicing	ENSG00000122490(ENST00000397778:exon3:c.203+1G>A;ENST00000357575:exon3:c.203+1G>A;ENST00000351365:exon2:c.94+1G>A;ENST00000474967:exon3:c.203+1G>A;ENST00000590381:exon3:c.203+1G>A;ENST00000591964:exon3:c.203+1G>A;ENST00000478144:exon2:c.143+1G>A;ENST00000593030:exon3:c.203+1G>A;ENST00000589452:exon3:c.203+1G>A)	.	.	0.999992446697775	0.934
18	77710724	C	A	18	79950724	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon2:c.G203T:p.W68L;PQLC1:NM_001146345:exon2:c.G203T:p.W68L;PQLC1:NM_001146343:exon2:c.G203T:p.W68L;	exonic	ENSG00000122490	stoploss SNV	ENSG00000122490:ENST00000589452:exon2:c.G203T:p.X68L;ENSG00000122490:ENST00000474967:exon2:c.G203T:p.X68L;	0.99986167514276	0.988
18	77710724	C	G	18	79950724	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon2:c.G203C:p.W68S;PQLC1:NM_001146345:exon2:c.G203C:p.W68S;PQLC1:NM_001146343:exon2:c.G203C:p.W68S;	exonic	ENSG00000122490	stoploss SNV	ENSG00000122490:ENST00000589452:exon2:c.G203C:p.X68S;ENSG00000122490:ENST00000474967:exon2:c.G203C:p.X68S;	0.999910647418684	0.976
18	77710724	C	T	18	79950724	y	y	exonic	PQLC1	stopgain SNV	PQLC1:NM_025078:exon2:c.G203A:p.W68X;PQLC1:NM_001146345:exon2:c.G203A:p.W68X;PQLC1:NM_001146343:exon2:c.G203A:p.W68X;	exonic	ENSG00000122490	stopgain SNV	ENSG00000122490:ENST00000593030:exon2:c.G203A:p.W68X;ENSG00000122490:ENST00000397778:exon2:c.G203A:p.W68X;ENSG00000122490:ENST00000590381:exon2:c.G203A:p.W68X;ENSG00000122490:ENST00000591964:exon2:c.G203A:p.W68X;ENSG00000122490:ENST00000357575:exon2:c.G203A:p.W68X;	0.999659410893289	0.952
18	77710725	A	C	18	79950725	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon2:c.T202G:p.W68G;PQLC1:NM_001146345:exon2:c.T202G:p.W68G;PQLC1:NM_001146343:exon2:c.T202G:p.W68G;	exonic	ENSG00000122490	stoploss SNV	ENSG00000122490:ENST00000589452:exon2:c.T202G:p.X68G;ENSG00000122490:ENST00000474967:exon2:c.T202G:p.X68G;	0.894254899748162	0.808
18	77710725	A	G	18	79950725	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon2:c.T202C:p.W68R;PQLC1:NM_001146345:exon2:c.T202C:p.W68R;PQLC1:NM_001146343:exon2:c.T202C:p.W68R;	exonic	ENSG00000122490	stoploss SNV	ENSG00000122490:ENST00000589452:exon2:c.T202C:p.X68R;ENSG00000122490:ENST00000474967:exon2:c.T202C:p.X68R;	0.859813183430061	0.788
18	77710725	A	T	18	79950725	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon2:c.T202A:p.W68R;PQLC1:NM_001146345:exon2:c.T202A:p.W68R;PQLC1:NM_001146343:exon2:c.T202A:p.W68R;	exonic	ENSG00000122490	stoploss SNV	ENSG00000122490:ENST00000589452:exon2:c.T202A:p.X68R;ENSG00000122490:ENST00000474967:exon2:c.T202A:p.X68R;	0.455215990483084	0.642
18	77710726	G	A	18	79950726	y	y	exonic	PQLC1	synonymous SNV	PQLC1:NM_025078:exon2:c.C201T:p.F67F;PQLC1:NM_001146345:exon2:c.C201T:p.F67F;PQLC1:NM_001146343:exon2:c.C201T:p.F67F;	exonic	ENSG00000122490	synonymous SNV	ENSG00000122490:ENST00000589452:exon2:c.C201T:p.F67F;ENSG00000122490:ENST00000593030:exon2:c.C201T:p.F67F;ENSG00000122490:ENST00000397778:exon2:c.C201T:p.F67F;ENSG00000122490:ENST00000590381:exon2:c.C201T:p.F67F;ENSG00000122490:ENST00000474967:exon2:c.C201T:p.F67F;ENSG00000122490:ENST00000478144:exon1:c.C141T:p.F47F;ENSG00000122490:ENST00000591964:exon2:c.C201T:p.F67F;ENSG00000122490:ENST00000357575:exon2:c.C201T:p.F67F;	0.0182138766637671	0.136
18	77710726	G	C	18	79950726	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon2:c.C201G:p.F67L;PQLC1:NM_001146345:exon2:c.C201G:p.F67L;PQLC1:NM_001146343:exon2:c.C201G:p.F67L;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000589452:exon2:c.C201G:p.F67L;ENSG00000122490:ENST00000593030:exon2:c.C201G:p.F67L;ENSG00000122490:ENST00000397778:exon2:c.C201G:p.F67L;ENSG00000122490:ENST00000590381:exon2:c.C201G:p.F67L;ENSG00000122490:ENST00000474967:exon2:c.C201G:p.F67L;ENSG00000122490:ENST00000478144:exon1:c.C141G:p.F47L;ENSG00000122490:ENST00000591964:exon2:c.C201G:p.F67L;ENSG00000122490:ENST00000357575:exon2:c.C201G:p.F67L;	0.010685636787412	0.088
18	77710726	G	T	18	79950726	y	y	exonic	PQLC1	nonsynonymous SNV	PQLC1:NM_025078:exon2:c.C201A:p.F67L;PQLC1:NM_001146345:exon2:c.C201A:p.F67L;PQLC1:NM_001146343:exon2:c.C201A:p.F67L;	exonic	ENSG00000122490	nonsynonymous SNV	ENSG00000122490:ENST00000589452:exon2:c.C201A:p.F67L;ENSG00000122490:ENST00000593030:exon2:c.C201A:p.F67L;ENSG00000122490:ENST00000397778:exon2:c.C201A:p.F67L;ENSG00000122490:ENST00000590381:exon2:c.C201A:p.F67L;ENSG00000122490:ENST00000474967:exon2:c.C201A:p.F67L;ENSG00000122490:ENST00000478144:exon1:c.C141A:p.F47L;ENSG00000122490:ENST00000591964:exon2:c.C201A:p.F67L;ENSG00000122490:ENST00000357575:exon2:c.C201A:p.F67L;	0.00464386990369685	0.206
18	77711024	G	A	18	79951024	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	1.77428320016971E-5	0.0
18	77711024	G	C	18	79951024	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	3.59656990767654E-5	0.002
18	77711024	G	T	18	79951024	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	3.67534093716936E-5	0.002
18	77711025	C	A	18	79951025	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.590690837418973	0.672
18	77711025	C	G	18	79951025	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.015899374728823	0.392
18	77711025	C	T	18	79951025	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.0171669149732857	0.268
18	77711026	C	A	18	79951026	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999934030845396	0.738
18	77711026	C	G	18	79951026	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999955085819317	0.738
18	77711026	C	T	18	79951026	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999956414402065	0.73
18	77711027	T	A	18	79951027	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999986879911118	0.7
18	77711027	T	C	18	79951027	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999980141726731	0.708
18	77711027	T	G	18	79951027	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999989633571753	0.708
18	77711028	G	A	18	79951028	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00693350999954665	0.124
18	77711028	G	C	18	79951028	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.99989331409137	0.958
18	77711028	G	T	18	79951028	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.990079972837905	0.728
18	77711029	C	A	18	79951029	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.23884084569283E-4	0.038
18	77711029	C	G	18	79951029	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.4341587849471E-5	0.0
18	77711029	C	T	18	79951029	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.9842078666241E-5	0.0
18	77711030	G	A	18	79951030	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	6.53780164803888E-5	0.004
18	77711030	G	C	18	79951030	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00270331269110207	0.11
18	77711030	G	T	18	79951030	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.99991739006508	0.968
18	77711031	G	A	18	79951031	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.06633810594436E-4	0.048
18	77711031	G	C	18	79951031	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0844525478783639	0.226
18	77711031	G	T	18	79951031	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.024312591833655	0.154
18	77711032	G	A	18	79951032	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.86773933334606E-5	0.0
18	77711032	G	C	18	79951032	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00254451146826436	0.09
18	77711032	G	T	18	79951032	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00275616560295587	0.08
18	77711033	G	A	18	79951033	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.17737765100722E-5	0.004
18	77711033	G	C	18	79951033	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	3.71763333324466E-4	0.02
18	77711033	G	T	18	79951033	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.84888178997381E-4	0.038
18	77711034	A	C	18	79951034	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0572262443481247	0.154
18	77711034	A	G	18	79951034	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00106986425128328	0.01
18	77711034	A	T	18	79951034	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0414143286184731	0.168
18	77711035	G	A	18	79951035	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.30571302076469E-4	0.0
18	77711035	G	C	18	79951035	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0231994380045931	0.186
18	77711035	G	T	18	79951035	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0433863377925731	0.15
18	77711036	C	A	18	79951036	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	9.86251695892983E-6	0.0
18	77711036	C	G	18	79951036	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.33583082840122E-6	0.0
18	77711036	C	T	18	79951036	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.88686248354617E-4	0.002
18	77711037	G	A	18	79951037	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.6586931612563E-4	0.054
18	77711037	G	C	18	79951037	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.00669607191685669	0.244
18	77711037	G	T	18	79951037	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.999894980618967	0.988
18	77711573	C	A	18	79951573	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.94615721382208E-5	0.012
18	77711573	C	G	18	79951573	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.88709620177118E-5	0.0
18	77711573	C	T	18	79951573	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.88709620177118E-5	0.002
18	77711574	T	A	18	79951574	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	1.55100917409395E-4	0.01
18	77711574	T	C	18	79951574	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.73390160924418E-5	0.012
18	77711574	T	G	18	79951574	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	7.2770427085387E-5	0.012
18	77711575	C	A	18	79951575	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	2.58722769412305E-5	0.0
18	77711575	C	G	18	79951575	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.59271195164291E-5	0.0
18	77711575	C	T	18	79951575	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	5.69432428514303E-5	0.0
18	77711576	C	A	18	79951576	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.78309966995045	0.584
18	77711576	C	G	18	79951576	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.496701820344797	0.586
18	77711576	C	T	18	79951576	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.862738932863554	0.62
18	77711577	T	A	18	79951577	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0947698634607217	0.3
18	77711577	T	C	18	79951577	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.193424253874072	0.35
18	77711577	T	G	18	79951577	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.0913807042024076	0.306
18	77711578	T	A	18	79951578	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.228196162867538	0.266
18	77711578	T	C	18	79951578	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	4.78836104622542E-4	0.026
18	77711578	T	G	18	79951578	y	y	intronic	PQLC1	.	.	intronic	ENSG00000122490	.	.	0.240962046563596	0.316
18	77711579	A	C	18	79951579	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999983063946468	0.682
18	77711579	A	G	18	79951579	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.767902658140476	0.456
18	77711579	A	T	18	79951579	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999983063946468	0.684
18	77711580	C	A	18	79951580	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999973224985796	0.738
18	77711580	C	G	18	79951580	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999965079854063	0.738
18	77711580	C	T	18	79951580	y	y	splicing	PQLC1	.	.	splicing	ENSG00000122490	.	.	0.999966112818546	0.728
18	77711581	C	A	18	79951581	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.991625948321055	0.854
18	77711581	C	G	18	79951581	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.994665340495418	0.784
18	77711581	C	T	18	79951581	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.8746362536529	0.804
18	77711582	T	A	18	79951582	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.113025983549754	0.378
18	77711582	T	C	18	79951582	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.104921381011707	0.32
18	77711582	T	G	18	79951582	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.0255331032900088	0.294
18	77711583	G	A	18	79951583	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.0100439795311286	0.182
18	77711583	G	C	18	79951583	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	4.7336349149965E-4	0.076
18	77711583	G	T	18	79951583	y	y	UTR5	PQLC1	.	.	UTR5	ENSG00000122490	.	.	0.00262772836782837	0.07
18	77724784	G	A	18	79964784	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon1:c.G49A:p.A17T;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.G49A:p.A17T;ENSG00000226742:ENST00000589516:exon1:c.G49A:p.A17T;	1.18129986854824E-4	0.01
18	77724784	G	C	18	79964784	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon1:c.G49C:p.A17P;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.G49C:p.A17P;ENSG00000226742:ENST00000589516:exon1:c.G49C:p.A17P;	7.02574320253344E-5	0.006
18	77724784	G	T	18	79964784	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon1:c.G49T:p.A17S;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.G49T:p.A17S;ENSG00000226742:ENST00000589516:exon1:c.G49T:p.A17S;	1.78826913776606E-4	0.042
18	77724785	C	A	18	79964785	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon1:c.C50A:p.A17E;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.C50A:p.A17E;ENSG00000226742:ENST00000589516:exon1:c.C50A:p.A17E;	3.03054095141934E-4	0.222
18	77724785	C	G	18	79964785	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon1:c.C50G:p.A17G;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.C50G:p.A17G;ENSG00000226742:ENST00000589516:exon1:c.C50G:p.A17G;	0.00151625381448551	0.108
18	77724785	C	T	18	79964785	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon1:c.C50T:p.A17V;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.C50T:p.A17V;ENSG00000226742:ENST00000589516:exon1:c.C50T:p.A17V;	0.00220617116481522	0.03
18	77724786	G	A	18	79964786	y	y	exonic	HSBP1L1	synonymous SNV	HSBP1L1:NM_001136180:exon1:c.G51A:p.A17A;	exonic	ENSG00000226742	synonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.G51A:p.A17A;ENSG00000226742:ENST00000589516:exon1:c.G51A:p.A17A;	0.999987558842416	0.984
18	77724786	G	C	18	79964786	y	y	exonic	HSBP1L1	synonymous SNV	HSBP1L1:NM_001136180:exon1:c.G51C:p.A17A;	exonic	ENSG00000226742	synonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.G51C:p.A17A;ENSG00000226742:ENST00000589516:exon1:c.G51C:p.A17A;	0.999988447518328	0.93
18	77724786	G	T	18	79964786	y	y	exonic	HSBP1L1	synonymous SNV	HSBP1L1:NM_001136180:exon1:c.G51T:p.A17A;	exonic	ENSG00000226742	synonymous SNV	ENSG00000226742:ENST00000451882:exon1:c.G51T:p.A17A;ENSG00000226742:ENST00000589516:exon1:c.G51T:p.A17A;	0.999935436878841	0.918
18	77724787	G	A	18	79964787	y	y	splicing	HSBP1L1(NM_001136180:exon1:c.51+1G>A)	.	.	splicing	ENSG00000226742(ENST00000451882:exon1:c.51+1G>A;ENST00000589516:exon1:c.51+1G>A)	.	.	0.999952015171374	0.9
18	77724787	G	C	18	79964787	y	y	splicing	HSBP1L1(NM_001136180:exon1:c.51+1G>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon1:c.51+1G>C;ENST00000589516:exon1:c.51+1G>C)	.	.	0.999971352136834	0.902
18	77724787	G	T	18	79964787	y	y	splicing	HSBP1L1(NM_001136180:exon1:c.51+1G>T)	.	.	splicing	ENSG00000226742(ENST00000451882:exon1:c.51+1G>T;ENST00000589516:exon1:c.51+1G>T)	.	.	0.999971352136834	0.906
18	77724788	T	A	18	79964788	y	y	splicing	HSBP1L1(NM_001136180:exon1:c.51+2T>A)	.	.	splicing	ENSG00000226742(ENST00000451882:exon1:c.51+2T>A;ENST00000589516:exon1:c.51+2T>A)	.	.	0.999959814118634	0.932
18	77724788	T	C	18	79964788	y	y	splicing	HSBP1L1(NM_001136180:exon1:c.51+2T>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon1:c.51+2T>C;ENST00000589516:exon1:c.51+2T>C)	.	.	0.99998197718087	0.918
18	77724788	T	G	18	79964788	y	y	splicing	HSBP1L1(NM_001136180:exon1:c.51+2T>G)	.	.	splicing	ENSG00000226742(ENST00000451882:exon1:c.51+2T>G;ENST00000589516:exon1:c.51+2T>G)	.	.	0.999967504297517	0.898
18	77724789	G	A	18	79964789	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00117862522839301	0.004
18	77724789	G	C	18	79964789	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.986375751938345	0.77
18	77724789	G	T	18	79964789	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.998052431916695	0.712
18	77724790	A	C	18	79964790	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.798958394601333	0.49
18	77724790	A	G	18	79964790	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.991844693199039	0.788
18	77724790	A	T	18	79964790	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.994613880018049	0.772
18	77724791	G	A	18	79964791	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.999984493519238	0.992
18	77724791	G	C	18	79964791	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.999902203968904	0.936
18	77724791	G	T	18	79964791	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.999945342870514	0.97
18	77724792	C	A	18	79964792	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.44362593935935E-4	0.02
18	77724792	C	G	18	79964792	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	7.90057308191528E-5	0.02
18	77724792	C	T	18	79964792	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.7475485440586E-5	0.012
18	77724793	C	A	18	79964793	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.21273182934119E-4	0.0
18	77724793	C	G	18	79964793	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.586127862747E-4	0.0
18	77724793	C	T	18	79964793	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	3.91347428418777E-4	0.0
18	77724794	C	A	18	79964794	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.48521146016855E-4	0.002
18	77724794	C	G	18	79964794	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.94681809685598E-4	0.0
18	77724794	C	T	18	79964794	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	7.79400008879981E-4	0.0
18	77726600	T	A	18	79966600	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0445220490493441	0.154
18	77726600	T	C	18	79966600	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.30173278741942E-4	0.01
18	77726600	T	G	18	79966600	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0131992915933185	0.14
18	77726601	T	A	18	79966601	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0122220722960519	0.102
18	77726601	T	C	18	79966601	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.45962575171021E-4	0.038
18	77726601	T	G	18	79966601	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00307955353829074	0.08
18	77726602	A	C	18	79966602	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.15491863239577E-4	0.016
18	77726602	A	G	18	79966602	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	9.18537982351614E-5	0.004
18	77726602	A	T	18	79966602	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.48715999433814E-4	0.022
18	77726603	T	A	18	79966603	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0172043631322408	0.21
18	77726603	T	C	18	79966603	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.76733903371291E-4	0.014
18	77726603	T	G	18	79966603	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.999846286717809	0.984
18	77726604	T	A	18	79966604	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0327452330757936	0.166
18	77726604	T	C	18	79966604	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	9.06976298287047E-4	0.024
18	77726604	T	G	18	79966604	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00805355644546739	0.124
18	77726605	T	A	18	79966605	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0317527332027312	0.238
18	77726605	T	C	18	79966605	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.79583935503564E-4	0.028
18	77726605	T	G	18	79966605	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0171051111453893	0.212
18	77726606	T	A	18	79966606	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.923954592491564	0.668
18	77726606	T	C	18	79966606	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00388611694217281	0.082
18	77726606	T	G	18	79966606	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.939786843624058	0.612
18	77726607	T	A	18	79966607	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.884626800539609	0.776
18	77726607	T	C	18	79966607	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0386596868361534	0.222
18	77726607	T	G	18	79966607	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.9116317021803	0.752
18	77726608	T	A	18	79966608	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.13577118466819E-4	0.04
18	77726608	T	C	18	79966608	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.16651941109353E-4	0.004
18	77726608	T	G	18	79966608	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	3.64483735013736E-5	0.004
18	77726609	C	A	18	79966609	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.694252589127222	0.634
18	77726609	C	G	18	79966609	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.999802134897134	0.908
18	77726609	C	T	18	79966609	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0417022329782207	0.16
18	77726610	A	C	18	79966610	y	y	splicing	HSBP1L1(NM_001136180:exon2:c.52-2A>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon2:c.52-2A>C;ENST00000589516:exon2:c.52-2A>C)	.	.	0.999993672935256	0.926
18	77726610	A	G	18	79966610	y	y	splicing	HSBP1L1(NM_001136180:exon2:c.52-2A>G)	.	.	splicing	ENSG00000226742(ENST00000451882:exon2:c.52-2A>G;ENST00000589516:exon2:c.52-2A>G)	.	.	0.999993672935256	0.926
18	77726610	A	T	18	79966610	y	y	splicing	HSBP1L1(NM_001136180:exon2:c.52-2A>T)	.	.	splicing	ENSG00000226742(ENST00000451882:exon2:c.52-2A>T;ENST00000589516:exon2:c.52-2A>T)	.	.	0.999993672935256	0.916
18	77726611	G	A	18	79966611	y	y	splicing	HSBP1L1(NM_001136180:exon2:c.52-1G>A)	.	.	splicing	ENSG00000226742(ENST00000451882:exon2:c.52-1G>A;ENST00000589516:exon2:c.52-1G>A)	.	.	0.999988247793601	0.93
18	77726611	G	C	18	79966611	y	y	splicing	HSBP1L1(NM_001136180:exon2:c.52-1G>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon2:c.52-1G>C;ENST00000589516:exon2:c.52-1G>C)	.	.	0.999988247793601	0.928
18	77726611	G	T	18	79966611	y	y	splicing	HSBP1L1(NM_001136180:exon2:c.52-1G>T)	.	.	splicing	ENSG00000226742(ENST00000451882:exon2:c.52-1G>T;ENST00000589516:exon2:c.52-1G>T)	.	.	0.999988247793601	0.918
18	77726612	G	A	18	79966612	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon2:c.G52A:p.A18T;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon2:c.G52A:p.A18T;ENSG00000226742:ENST00000589516:exon2:c.G52A:p.A18T;	0.973141280442986	0.72
18	77726612	G	C	18	79966612	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon2:c.G52C:p.A18P;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon2:c.G52C:p.A18P;ENSG00000226742:ENST00000589516:exon2:c.G52C:p.A18P;	0.99893347577947	0.926
18	77726612	G	T	18	79966612	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon2:c.G52T:p.A18S;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon2:c.G52T:p.A18S;ENSG00000226742:ENST00000589516:exon2:c.G52T:p.A18S;	0.99931614574255	0.902
18	77726613	C	A	18	79966613	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon2:c.C53A:p.A18E;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon2:c.C53A:p.A18E;ENSG00000226742:ENST00000589516:exon2:c.C53A:p.A18E;	0.00793260440979151	0.124
18	77726613	C	G	18	79966613	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon2:c.C53G:p.A18G;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon2:c.C53G:p.A18G;ENSG00000226742:ENST00000589516:exon2:c.C53G:p.A18G;	6.00340255868458E-4	0.072
18	77726613	C	T	18	79966613	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon2:c.C53T:p.A18V;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon2:c.C53T:p.A18V;ENSG00000226742:ENST00000589516:exon2:c.C53T:p.A18V;	0.00112040562970683	0.138
18	77726764	T	A	18	79966764	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	2.51052015177501E-4	.
18	77726764	T	C	18	79966764	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	2.51052015177501E-4	.
18	77726764	T	G	18	79966764	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	2.51052015177501E-4	.
18	77726765	A	C	18	79966765	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	1.42382745004369E-4	.
18	77726765	A	G	18	79966765	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	1.42382745004369E-4	.
18	77726765	A	T	18	79966765	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	1.42382745004369E-4	.
18	77726766	G	A	18	79966766	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	3.23943572687606E-4	.
18	77726766	G	C	18	79966766	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	4.07334512399467E-4	.
18	77726766	G	T	18	79966766	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	3.23943572687606E-4	.
18	77726767	G	A	18	79966767	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon2:c.206+1G>A)	.	.	1.06950246217123E-4	.
18	77726767	G	C	18	79966767	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon2:c.206+1G>C)	.	.	8.50497870835986E-5	.
18	77726767	G	T	18	79966767	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon2:c.206+1G>T)	.	.	1.06950246217123E-4	.
18	77726768	T	A	18	79966768	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon2:c.206+2T>A)	.	.	4.56218963169323E-4	.
18	77726768	T	C	18	79966768	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon2:c.206+2T>C)	.	.	2.51052015177501E-4	.
18	77726768	T	G	18	79966768	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon2:c.206+2T>G)	.	.	2.51052015177501E-4	.
18	77726769	A	C	18	79966769	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	9.30805991419724E-5	.
18	77726769	A	G	18	79966769	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	9.30805991419724E-5	.
18	77726769	A	T	18	79966769	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	9.30805991419724E-5	.
18	77726770	A	C	18	79966770	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.05195303557476E-5	.
18	77726770	A	G	18	79966770	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.05195303557476E-5	.
18	77726770	A	T	18	79966770	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.05195303557476E-5	.
18	77726771	T	A	18	79966771	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00157401283854507	.
18	77726771	T	C	18	79966771	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00160982491002213	.
18	77726771	T	G	18	79966771	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00160982491002213	.
18	77726772	A	C	18	79966772	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.02201940618667E-5	.
18	77726772	A	G	18	79966772	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.02201940618667E-5	.
18	77726772	A	T	18	79966772	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.02201940618667E-5	.
18	77726773	G	A	18	79966773	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.0557061788543E-4	.
18	77726773	G	C	18	79966773	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.41168266948313E-4	.
18	77726773	G	T	18	79966773	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.41168266948313E-4	.
18	77726774	T	A	18	79966774	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.66596871451991E-4	.
18	77726774	T	C	18	79966774	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.66596871451991E-4	.
18	77726774	T	G	18	79966774	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.66596871451991E-4	.
18	77727980	T	A	18	79967980	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00325532007319869	.
18	77727980	T	C	18	79967980	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00425133215140828	.
18	77727980	T	G	18	79967980	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00425133215140828	.
18	77727981	C	A	18	79967981	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.48830808140135E-4	.
18	77727981	C	G	18	79967981	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.48830808140135E-4	.
18	77727981	C	T	18	79967981	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.48830808140135E-4	.
18	77727982	A	C	18	79967982	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.75274543905585E-5	.
18	77727982	A	G	18	79967982	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.75274543905585E-5	.
18	77727982	A	T	18	79967982	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.75274543905585E-5	.
18	77727983	T	A	18	79967983	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.17759677519482E-5	.
18	77727983	T	C	18	79967983	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.17759677519482E-5	.
18	77727983	T	G	18	79967983	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.17759677519482E-5	.
18	77727984	T	A	18	79967984	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.49171090176541E-4	.
18	77727984	T	C	18	79967984	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.49171090176541E-4	.
18	77727984	T	G	18	79967984	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.49171090176541E-4	.
18	77727985	T	A	18	79967985	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.4913305930995E-4	.
18	77727985	T	C	18	79967985	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.47151936358531E-4	.
18	77727985	T	G	18	79967985	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.47151936358531E-4	.
18	77727986	C	A	18	79967986	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.27773979885521E-5	.
18	77727986	C	G	18	79967986	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.89123390353156E-5	.
18	77727986	C	T	18	79967986	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.27773979885521E-5	.
18	77727987	A	C	18	79967987	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.22697458141674E-5	.
18	77727987	A	G	18	79967987	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.22697458141674E-5	.
18	77727987	A	T	18	79967987	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.30419699767933E-4	.
18	77727988	A	C	18	79967988	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.90397060488625E-5	.
18	77727988	A	G	18	79967988	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.90397060488625E-5	.
18	77727988	A	T	18	79967988	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.90397060488625E-5	.
18	77727989	A	C	18	79967989	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	9.91797018472215E-5	.
18	77727989	A	G	18	79967989	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	9.91797018472215E-5	.
18	77727989	A	T	18	79967989	n	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	9.91797018472215E-5	.
18	77727990	A	C	18	79967990	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon3:c.207-2A>C)	.	.	3.36065222752319E-5	.
18	77727990	A	G	18	79967990	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon3:c.207-2A>G)	.	.	3.36065222752319E-5	.
18	77727990	A	T	18	79967990	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon3:c.207-2A>T)	.	.	3.36065222752319E-5	.
18	77727991	G	A	18	79967991	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon3:c.207-1G>A)	.	.	0.00227440523546263	.
18	77727991	G	C	18	79967991	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon3:c.207-1G>C)	.	.	0.00227440523546263	.
18	77727991	G	T	18	79967991	n	y	intronic	HSBP1L1	.	.	splicing	ENSG00000226742(ENST00000589516:exon3:c.207-1G>T)	.	.	0.00227440523546263	.
18	77727992	T	A	18	79967992	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	1.07016468792147E-4	.
18	77727992	T	C	18	79967992	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	9.91797018472215E-5	.
18	77727992	T	G	18	79967992	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	9.91797018472215E-5	.
18	77727993	T	A	18	79967993	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	4.61196041895707E-4	.
18	77727993	T	C	18	79967993	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	2.7983857656717E-4	.
18	77727993	T	G	18	79967993	n	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	2.7983857656717E-4	.
18	77728081	C	A	18	79968081	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	0.00445259227289942	.
18	77728081	C	G	18	79968081	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	0.00445259227289942	.
18	77728081	C	T	18	79968081	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	0.0084225796836873	.
18	77728082	A	C	18	79968082	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	1.21652030931544E-4	.
18	77728082	A	G	18	79968082	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	1.12969501826423E-4	.
18	77728082	A	T	18	79968082	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	1.06607414023018E-4	.
18	77728083	C	A	18	79968083	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	3.97971884453816E-5	.
18	77728083	C	G	18	79968083	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	3.97971884453816E-5	.
18	77728083	C	T	18	79968083	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	3.97971884453816E-5	.
18	77728084	T	A	18	79968084	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	3.8297139487184E-5	.
18	77728084	T	C	18	79968084	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	3.8297139487184E-5	.
18	77728084	T	G	18	79968084	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	3.8297139487184E-5	.
18	77728085	G	A	18	79968085	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	6.46975074583279E-5	.
18	77728085	G	C	18	79968085	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	6.46975074583279E-5	.
18	77728085	G	T	18	79968085	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	6.46975074583279E-5	.
18	77728086	T	A	18	79968086	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	8.7723133025283E-5	.
18	77728086	T	C	18	79968086	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	8.7723133025283E-5	.
18	77728086	T	G	18	79968086	y	y	intronic	HSBP1L1	.	.	UTR3	ENSG00000226742	.	.	8.7723133025283E-5	.
18	77728087	A	C	18	79968087	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.119-2A>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.119-2A>C)	.	.	0.0814933661069918	.
18	77728087	A	G	18	79968087	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.119-2A>G)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.119-2A>G)	.	.	0.0814933661069918	.
18	77728087	A	T	18	79968087	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.119-2A>T)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.119-2A>T)	.	.	0.0710233094247716	.
18	77728088	C	A	18	79968088	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.119-1C>A)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.119-1C>A)	.	.	0.148385915386682	.
18	77728088	C	G	18	79968088	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.119-1C>G)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.119-1C>G)	.	.	0.148385915386682	.
18	77728088	C	T	18	79968088	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.119-1C>T)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.119-1C>T)	.	.	0.293511491987574	.
18	77728089	T	A	18	79968089	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.T119A:p.M40K;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.T119A:p.M40K;	0.176642608189782	.
18	77728089	T	C	18	79968089	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.T119C:p.M40T;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.T119C:p.M40T;	0.0573050251883777	.
18	77728089	T	G	18	79968089	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.T119G:p.M40R;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.T119G:p.M40R;	0.051462425064547	.
18	77728090	G	A	18	79968090	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.G120A:p.M40I;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.G120A:p.M40I;	0.0628848425720447	.
18	77728090	G	C	18	79968090	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.G120C:p.M40I;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.G120C:p.M40I;	0.086391956571311	.
18	77728090	G	T	18	79968090	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.G120T:p.M40I;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.G120T:p.M40I;	0.0650497772147234	.
18	77728091	G	A	18	79968091	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.G121A:p.E41K;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.G121A:p.E41K;	0.994951520610705	.
18	77728091	G	C	18	79968091	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.G121C:p.E41Q;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.G121C:p.E41Q;	0.993221235271222	.
18	77728091	G	T	18	79968091	y	y	exonic	HSBP1L1	stopgain SNV	HSBP1L1:NM_001136180:exon3:c.G121T:p.E41X;	exonic	ENSG00000226742	stopgain SNV	ENSG00000226742:ENST00000451882:exon3:c.G121T:p.E41X;	0.981899390266843	.
18	77728181	A	C	18	79968181	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.A211C:p.M71L;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.A211C:p.M71L;	8.78556618821652E-5	0.02
18	77728181	A	G	18	79968181	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.A211G:p.M71V;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.A211G:p.M71V;	1.69443191479774E-4	0.012
18	77728181	A	T	18	79968181	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.A211T:p.M71L;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.A211T:p.M71L;	8.47821265522889E-4	0.106
18	77728182	T	A	18	79968182	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.T212A:p.M71K;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.T212A:p.M71K;	2.61955321049974E-5	0.194
18	77728182	T	C	18	79968182	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.T212C:p.M71T;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.T212C:p.M71T;	3.42977019658697E-5	0.0
18	77728182	T	G	18	79968182	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.T212G:p.M71R;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.T212G:p.M71R;	1.04933046666048E-4	0.052
18	77728183	G	A	18	79968183	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.G213A:p.M71I;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.G213A:p.M71I;	0.999042368979974	0.95
18	77728183	G	C	18	79968183	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.G213C:p.M71I;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.G213C:p.M71I;	0.999885457477087	0.724
18	77728183	G	T	18	79968183	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon3:c.G213T:p.M71I;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon3:c.G213T:p.M71I;	0.998523286987247	0.936
18	77728184	G	A	18	79968184	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.213+1G>A)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.213+1G>A;ENST00000589516:exon3:c.398+1G>A)	.	.	0.999985151043037	0.932
18	77728184	G	C	18	79968184	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.213+1G>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.213+1G>C;ENST00000589516:exon3:c.398+1G>C)	.	.	0.999961682427198	0.93
18	77728184	G	T	18	79968184	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.213+1G>T)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.213+1G>T;ENST00000589516:exon3:c.398+1G>T)	.	.	0.999985151043037	0.93
18	77728185	T	A	18	79968185	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.213+2T>A)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.213+2T>A;ENST00000589516:exon3:c.398+2T>A)	.	.	0.999979061948356	0.838
18	77728185	T	C	18	79968185	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.213+2T>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.213+2T>C;ENST00000589516:exon3:c.398+2T>C)	.	.	0.99668885720406	0.816
18	77728185	T	G	18	79968185	y	y	splicing	HSBP1L1(NM_001136180:exon3:c.213+2T>G)	.	.	splicing	ENSG00000226742(ENST00000451882:exon3:c.213+2T>G;ENST00000589516:exon3:c.398+2T>G)	.	.	0.999974415865558	0.844
18	77728186	A	C	18	79968186	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.998040482134679	0.804
18	77728186	A	G	18	79968186	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0119202745194957	0.264
18	77728186	A	T	18	79968186	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.993250108182315	0.774
18	77728187	A	C	18	79968187	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.948183538782264	0.65
18	77728187	A	G	18	79968187	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.988763383780905	0.808
18	77728187	A	T	18	79968187	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.995619191109386	0.834
18	77728188	G	A	18	79968188	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.999570514385484	0.888
18	77728188	G	C	18	79968188	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.998866050337043	0.928
18	77728188	G	T	18	79968188	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.999437805316259	0.856
18	77728189	G	A	18	79968189	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.61668854590291E-4	0.012
18	77728189	G	C	18	79968189	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00167795435269216	0.024
18	77728189	G	T	18	79968189	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	7.46114372167576E-5	0.0
18	77728190	T	A	18	79968190	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.82475979745566E-5	0.0
18	77728190	T	C	18	79968190	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.82475979745566E-5	0.0
18	77728190	T	G	18	79968190	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.86764315709017E-5	0.0
18	77728191	T	A	18	79968191	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.99196838039782E-5	0.0
18	77728191	T	C	18	79968191	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	3.30477579161392E-5	0.0
18	77728191	T	G	18	79968191	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.68216876595996E-5	0.0
18	77730428	C	A	18	79970428	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.21011966062256E-5	0.148
18	77730428	C	G	18	79970428	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.34415168408131E-4	0.068
18	77730428	C	T	18	79970428	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.70963394949048E-5	0.002
18	77730429	T	A	18	79970429	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.798496341299188	0.636
18	77730429	T	C	18	79970429	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00174317494954925	0.168
18	77730429	T	G	18	79970429	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.558576978115384	0.57
18	77730430	C	A	18	79970430	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.86239295751673E-4	0.066
18	77730430	C	G	18	79970430	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.19921149982208E-4	0.014
18	77730430	C	T	18	79970430	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.08332002171532E-5	0.0
18	77730431	C	A	18	79970431	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.0017614042406234	0.158
18	77730431	C	G	18	79970431	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.002410451036647	0.128
18	77730431	C	T	18	79970431	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	6.45929576573875E-5	0.05
18	77730432	C	A	18	79970432	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00215853981702276	0.25
18	77730432	C	G	18	79970432	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00203151701812983	0.172
18	77730432	C	T	18	79970432	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	8.96317674274138E-5	0.072
18	77730433	T	A	18	79970433	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00156731955303981	0.148
18	77730433	T	C	18	79970433	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.20379891084028E-4	0.012
18	77730433	T	G	18	79970433	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.00374058001904855	0.194
18	77730434	A	C	18	79970434	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.26282657477284E-5	0.0
18	77730434	A	G	18	79970434	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	2.00758559127417E-5	0.0
18	77730434	A	T	18	79970434	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.26282657477284E-5	0.024
18	77730435	A	C	18	79970435	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.83064655240018E-5	0.008
18	77730435	A	G	18	79970435	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.995725768501758	0.942
18	77730435	A	T	18	79970435	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.16109576634038E-4	0.13
18	77730436	A	C	18	79970436	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	4.6556147303571E-5	0.048
18	77730436	A	G	18	79970436	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.996007153516595	0.956
18	77730436	A	T	18	79970436	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	1.15728977499058E-4	0.024
18	77730437	T	A	18	79970437	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.42443850490362E-4	0.25
18	77730437	T	C	18	79970437	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	5.77649178998316E-5	0.088
18	77730437	T	G	18	79970437	y	y	intronic	HSBP1L1	.	.	intronic	ENSG00000226742	.	.	0.392725652282411	0.594
18	77730438	A	C	18	79970438	y	y	splicing	HSBP1L1(NM_001136180:exon4:c.214-2A>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon4:c.214-2A>C;ENST00000589516:exon4:c.399-2A>C)	.	.	0.999846541585989	0.506
18	77730438	A	G	18	79970438	y	y	splicing	HSBP1L1(NM_001136180:exon4:c.214-2A>G)	.	.	splicing	ENSG00000226742(ENST00000451882:exon4:c.214-2A>G;ENST00000589516:exon4:c.399-2A>G)	.	.	0.999846541585989	0.506
18	77730438	A	T	18	79970438	y	y	splicing	HSBP1L1(NM_001136180:exon4:c.214-2A>T)	.	.	splicing	ENSG00000226742(ENST00000451882:exon4:c.214-2A>T;ENST00000589516:exon4:c.399-2A>T)	.	.	0.999846541585989	0.484
18	77730439	G	A	18	79970439	y	y	splicing	HSBP1L1(NM_001136180:exon4:c.214-1G>A)	.	.	splicing	ENSG00000226742(ENST00000451882:exon4:c.214-1G>A;ENST00000589516:exon4:c.399-1G>A)	.	.	0.999911670503515	0.726
18	77730439	G	C	18	79970439	y	y	splicing	HSBP1L1(NM_001136180:exon4:c.214-1G>C)	.	.	splicing	ENSG00000226742(ENST00000451882:exon4:c.214-1G>C;ENST00000589516:exon4:c.399-1G>C)	.	.	0.999911670503515	0.718
18	77730439	G	T	18	79970439	y	y	splicing	HSBP1L1(NM_001136180:exon4:c.214-1G>T)	.	.	splicing	ENSG00000226742(ENST00000451882:exon4:c.214-1G>T;ENST00000589516:exon4:c.399-1G>T)	.	.	0.999911670503515	0.724
18	77730440	C	A	18	79970440	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon4:c.C214A:p.L72M;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon4:c.C214A:p.L72M;	2.24794921012676E-5	0.0
18	77730440	C	G	18	79970440	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon4:c.C214G:p.L72V;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon4:c.C214G:p.L72V;	1.26307890548007E-4	0.108
18	77730440	C	T	18	79970440	y	y	exonic	HSBP1L1	synonymous SNV	HSBP1L1:NM_001136180:exon4:c.C214T:p.L72L;	exonic	ENSG00000226742	synonymous SNV	ENSG00000226742:ENST00000451882:exon4:c.C214T:p.L72L;	1.89037119020887E-5	0.024
18	77730441	T	A	18	79970441	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon4:c.T215A:p.L72Q;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon4:c.T215A:p.L72Q;	0.00148798956459316	0.042
18	77730441	T	C	18	79970441	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon4:c.T215C:p.L72P;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon4:c.T215C:p.L72P;	0.00629011173429991	0.07
18	77730441	T	G	18	79970441	y	y	exonic	HSBP1L1	nonsynonymous SNV	HSBP1L1:NM_001136180:exon4:c.T215G:p.L72R;	exonic	ENSG00000226742	nonsynonymous SNV	ENSG00000226742:ENST00000451882:exon4:c.T215G:p.L72R;	0.00874444395896204	0.05
18	77733855	T	A	18	79973855	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon3:c.A259T:p.N87Y;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon4:c.A46T:p.N16Y;ENSG00000141759:ENST00000269601:exon3:c.A259T:p.N87Y;ENSG00000141759:ENST00000585474:exon3:c.A46T:p.N16Y;ENSG00000141759:ENST00000592837:exon2:c.A46T:p.N16Y;ENSG00000141759:ENST00000588162:exon2:c.A155T:p.E52V;	0.865215561416801	0.746
18	77733855	T	C	18	79973855	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon3:c.A259G:p.N87D;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon4:c.A46G:p.N16D;ENSG00000141759:ENST00000269601:exon3:c.A259G:p.N87D;ENSG00000141759:ENST00000585474:exon3:c.A46G:p.N16D;ENSG00000141759:ENST00000592837:exon2:c.A46G:p.N16D;ENSG00000141759:ENST00000588162:exon2:c.A155G:p.E52G;	0.912163589682143	0.522
18	77733855	T	G	18	79973855	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon3:c.A259C:p.N87H;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon4:c.A46C:p.N16H;ENSG00000141759:ENST00000269601:exon3:c.A259C:p.N87H;ENSG00000141759:ENST00000585474:exon3:c.A46C:p.N16H;ENSG00000141759:ENST00000592837:exon2:c.A46C:p.N16H;ENSG00000141759:ENST00000588162:exon2:c.A155C:p.E52A;	0.910533070361485	0.74
18	77733856	C	A	18	79973856	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon3:c.G258T:p.R86S;	exonic	ENSG00000141759	stopgain SNV	ENSG00000141759:ENST00000588162:exon2:c.G154T:p.E52X;	0.951963138358466	0.6
18	77733856	C	G	18	79973856	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon3:c.G258C:p.R86S;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon4:c.G45C:p.R15S;ENSG00000141759:ENST00000269601:exon3:c.G258C:p.R86S;ENSG00000141759:ENST00000585474:exon3:c.G45C:p.R15S;ENSG00000141759:ENST00000592837:exon2:c.G45C:p.R15S;ENSG00000141759:ENST00000588162:exon2:c.G154C:p.E52Q;	0.27556901022908	0.348
18	77733856	C	T	18	79973856	y	y	exonic	TXNL4A	synonymous SNV	TXNL4A:NM_006701:exon3:c.G258A:p.R86R;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000588162:exon2:c.G154A:p.E52K;	0.00182689032400301	0.126
18	77733857	C	A	18	79973857	y	y	splicing	TXNL4A(NM_006701:exon4:c.258-1G>T)	.	.	splicing	ENSG00000141759(ENST00000269601:exon4:c.258-1G>T;ENST00000585474:exon4:c.45-1G>T;ENST00000588162:exon3:c.154-1G>T;ENST00000592957:exon5:c.45-1G>T;ENST00000355491:exon5:c.328-1G>T;ENST00000585769:exon6:c.477-1G>T;ENST00000592837:exon3:c.45-1G>T)	.	.	0.999989072007339	0.934
18	77733857	C	G	18	79973857	y	y	splicing	TXNL4A(NM_006701:exon4:c.258-1G>C)	.	.	splicing	ENSG00000141759(ENST00000269601:exon4:c.258-1G>C;ENST00000585474:exon4:c.45-1G>C;ENST00000588162:exon3:c.154-1G>C;ENST00000592957:exon5:c.45-1G>C;ENST00000355491:exon5:c.328-1G>C;ENST00000585769:exon6:c.477-1G>C;ENST00000592837:exon3:c.45-1G>C)	.	.	0.999989072007339	0.934
18	77733857	C	T	18	79973857	y	y	splicing	TXNL4A(NM_006701:exon4:c.258-1G>A)	.	.	splicing	ENSG00000141759(ENST00000269601:exon4:c.258-1G>A;ENST00000585474:exon4:c.45-1G>A;ENST00000588162:exon3:c.154-1G>A;ENST00000592957:exon5:c.45-1G>A;ENST00000355491:exon5:c.328-1G>A;ENST00000585769:exon6:c.477-1G>A;ENST00000592837:exon3:c.45-1G>A)	.	.	0.999989072007339	0.934
18	77733858	T	A	18	79973858	y	y	splicing	TXNL4A(NM_006701:exon4:c.258-2A>T)	.	.	splicing	ENSG00000141759(ENST00000269601:exon4:c.258-2A>T;ENST00000585474:exon4:c.45-2A>T;ENST00000588162:exon3:c.154-2A>T;ENST00000592957:exon5:c.45-2A>T;ENST00000355491:exon5:c.328-2A>T;ENST00000585769:exon6:c.477-2A>T;ENST00000592837:exon3:c.45-2A>T)	.	.	0.999988247793601	0.932
18	77733858	T	C	18	79973858	y	y	splicing	TXNL4A(NM_006701:exon4:c.258-2A>G)	.	.	splicing	ENSG00000141759(ENST00000269601:exon4:c.258-2A>G;ENST00000585474:exon4:c.45-2A>G;ENST00000588162:exon3:c.154-2A>G;ENST00000592957:exon5:c.45-2A>G;ENST00000355491:exon5:c.328-2A>G;ENST00000585769:exon6:c.477-2A>G;ENST00000592837:exon3:c.45-2A>G)	.	.	0.999988247793601	0.93
18	77733858	T	G	18	79973858	y	y	splicing	TXNL4A(NM_006701:exon4:c.258-2A>C)	.	.	splicing	ENSG00000141759(ENST00000269601:exon4:c.258-2A>C;ENST00000585474:exon4:c.45-2A>C;ENST00000588162:exon3:c.154-2A>C;ENST00000592957:exon5:c.45-2A>C;ENST00000355491:exon5:c.328-2A>C;ENST00000585769:exon6:c.477-2A>C;ENST00000592837:exon3:c.45-2A>C)	.	.	0.999988247793601	0.93
18	77733859	G	A	18	79973859	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00864951217261197	0.048
18	77733859	G	C	18	79973859	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.999780597716687	0.934
18	77733859	G	T	18	79973859	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.758534683747793	0.534
18	77733860	C	A	18	79973860	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.76503362320449E-4	0.002
18	77733860	C	G	18	79973860	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.08542051641488E-4	0.006
18	77733860	C	T	18	79973860	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.04605688447047E-4	0.002
18	77733861	A	C	18	79973861	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0197314584761886	0.328
18	77733861	A	G	18	79973861	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.34263641491352E-4	0.018
18	77733861	A	T	18	79973861	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.993315185139426	0.824
18	77733862	A	C	18	79973862	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00248510037622119	0.074
18	77733862	A	G	18	79973862	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.52307789185469E-5	0.0
18	77733862	A	T	18	79973862	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00225690107517019	0.044
18	77733863	C	A	18	79973863	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.65096955710674E-5	0.0
18	77733863	C	G	18	79973863	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.86657007501519E-5	0.008
18	77733863	C	T	18	79973863	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.99196838039782E-5	0.0
18	77733864	G	A	18	79973864	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.51049492248509E-5	0.0
18	77733864	G	C	18	79973864	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.15156964902167E-4	0.012
18	77733864	G	T	18	79973864	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.987091341251133	0.984
18	77733865	A	C	18	79973865	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00181982136496374	0.048
18	77733865	A	G	18	79973865	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.1589963645218E-5	0.002
18	77733865	A	T	18	79973865	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00534516868844995	0.066
18	77733866	G	A	18	79973866	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.8565934378935E-5	0.0
18	77733866	G	C	18	79973866	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.56546195037905E-4	0.068
18	77733866	G	T	18	79973866	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.12029539849119E-4	0.082
18	77733867	A	C	18	79973867	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00638298001699616	0.16
18	77733867	A	G	18	79973867	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.53107891026892E-4	0.048
18	77733867	A	T	18	79973867	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0289044969948399	0.222
18	77733868	A	C	18	79973868	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.00725521122031E-4	0.076
18	77733868	A	G	18	79973868	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.45006736044364E-5	0.002
18	77733868	A	T	18	79973868	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00201271098493092	0.052
18	77736710	T	A	18	79976710	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.95735775412773E-5	0.002
18	77736710	T	C	18	79976710	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.95735775412773E-5	0.002
18	77736710	T	G	18	79976710	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.95735775412773E-5	0.002
18	77736711	T	A	18	79976711	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.53814986019981E-5	0.0
18	77736711	T	C	18	79976711	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.53814986019981E-5	0.0
18	77736711	T	G	18	79976711	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.53814986019981E-5	0.0
18	77736712	C	A	18	79976712	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.47959532904733E-5	0.012
18	77736712	C	G	18	79976712	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.47959532904733E-5	0.014
18	77736712	C	T	18	79976712	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.47959532904733E-5	0.016
18	77736713	C	A	18	79976713	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.96186567608212E-5	0.006
18	77736713	C	G	18	79976713	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.38183787611534E-5	0.0
18	77736713	C	T	18	79976713	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.65361214020652E-5	0.006
18	77736714	T	A	18	79976714	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.57607375837078E-5	0.006
18	77736714	T	C	18	79976714	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.92786444512075E-5	0.002
18	77736714	T	G	18	79976714	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.92786444512075E-5	0.002
18	77736715	T	A	18	79976715	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.88014054966508E-5	0.0
18	77736715	T	C	18	79976715	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.88014054966508E-5	0.0
18	77736715	T	G	18	79976715	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.88014054966508E-5	0.0
18	77736716	A	C	18	79976716	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.327+2T>G;ENST00000585769:exon5:c.476+2T>G)	.	.	1.95735775412773E-5	0.002
18	77736716	A	G	18	79976716	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.327+2T>C;ENST00000585769:exon5:c.476+2T>C)	.	.	1.95735775412773E-5	0.002
18	77736716	A	T	18	79976716	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.327+2T>A;ENST00000585769:exon5:c.476+2T>A)	.	.	1.95735775412773E-5	0.002
18	77736717	C	A	18	79976717	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.327+1G>T;ENST00000585769:exon5:c.476+1G>T)	.	.	4.91125889811943E-5	0.006
18	77736717	C	G	18	79976717	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.327+1G>C;ENST00000585769:exon5:c.476+1G>C)	.	.	4.91125889811943E-5	0.006
18	77736717	C	T	18	79976717	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.327+1G>A;ENST00000585769:exon5:c.476+1G>A)	.	.	4.91125889811943E-5	0.008
18	77736718	C	A	18	79976718	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	7.4720228130805E-5	0.046
18	77736718	C	G	18	79976718	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	7.4720228130805E-5	0.042
18	77736718	C	T	18	79976718	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.77346097862455E-4	0.048
18	77736719	G	A	18	79976719	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	3.07620641825897E-5	0.0
18	77736719	G	C	18	79976719	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	3.07620641825897E-5	0.0
18	77736719	G	T	18	79976719	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	3.07620641825897E-5	0.0
18	77736720	A	C	18	79976720	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.10275622159801E-5	0.0
18	77736720	A	G	18	79976720	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.10275622159801E-5	0.0
18	77736720	A	T	18	79976720	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.70337218186484E-5	0.0
18	77736786	A	C	18	79976786	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000355491:exon3:c.T259G:p.Y87D;	6.54291542054858E-4	0.002
18	77736786	A	G	18	79976786	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000355491:exon3:c.T259C:p.Y87H;	2.02885091851015E-4	0.034
18	77736786	A	T	18	79976786	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000355491:exon3:c.T259A:p.Y87N;	6.54291542054858E-4	0.0
18	77736787	A	C	18	79976787	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000355491:exon3:c.T258G:p.S86R;	3.60081151915995E-4	0.004
18	77736787	A	G	18	79976787	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	synonymous SNV	ENSG00000141759:ENST00000355491:exon3:c.T258C:p.S86S;	4.81456590373184E-4	0.066
18	77736787	A	T	18	79976787	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000355491:exon3:c.T258A:p.S86R;	6.54291542054858E-4	0.01
18	77736788	C	A	18	79976788	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.258-1G>T;ENST00000585769:exon5:c.407-1G>T)	.	.	1.1738525533333E-5	0.0
18	77736788	C	G	18	79976788	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.258-1G>C;ENST00000585769:exon5:c.407-1G>C)	.	.	1.08788427788342E-5	0.0
18	77736788	C	T	18	79976788	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.258-1G>A;ENST00000585769:exon5:c.407-1G>A)	.	.	1.1738525533333E-5	0.002
18	77736789	T	A	18	79976789	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.258-2A>T;ENST00000585769:exon5:c.407-2A>T)	.	.	1.71486889510802E-5	0.0
18	77736789	T	C	18	79976789	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.258-2A>G;ENST00000585769:exon5:c.407-2A>G)	.	.	1.58927937202005E-5	0.002
18	77736789	T	G	18	79976789	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000355491:exon4:c.258-2A>C;ENST00000585769:exon5:c.407-2A>C)	.	.	1.58927937202005E-5	0.002
18	77736790	A	C	18	79976790	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.81456590373184E-4	0.04
18	77736790	A	G	18	79976790	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.81456590373184E-4	0.04
18	77736790	A	T	18	79976790	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.81456590373184E-4	0.066
18	77736791	A	C	18	79976791	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.45277156108894E-5	0.0
18	77736791	A	G	18	79976791	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.45277156108894E-5	0.0
18	77736791	A	T	18	79976791	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.45277156108894E-5	0.0
18	77736792	A	C	18	79976792	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.58184379858508E-4	0.044
18	77736792	A	G	18	79976792	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.58184379858508E-4	0.044
18	77736792	A	T	18	79976792	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.58184379858508E-4	0.164
18	77736793	C	A	18	79976793	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.99153316237132E-5	0.0
18	77736793	C	G	18	79976793	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.99153316237132E-5	0.0
18	77736793	C	T	18	79976793	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.99153316237132E-5	0.0
18	77736794	A	C	18	79976794	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.68219155180855E-5	0.002
18	77736794	A	G	18	79976794	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.68219155180855E-5	0.002
18	77736794	A	T	18	79976794	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.68219155180855E-5	0.002
18	77736795	A	C	18	79976795	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	9.57123356397867E-5	0.008
18	77736795	A	G	18	79976795	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	9.57123356397867E-5	0.008
18	77736795	A	T	18	79976795	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	9.57123356397867E-5	0.006
18	77736796	G	A	18	79976796	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.99153316237132E-5	0.002
18	77736796	G	C	18	79976796	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.99153316237132E-5	0.002
18	77736796	G	T	18	79976796	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.99153316237132E-5	0.002
18	77736797	T	A	18	79976797	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.13503796622452E-5	0.004
18	77736797	T	C	18	79976797	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.13503796622452E-5	0.004
18	77736797	T	G	18	79976797	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.13503796622452E-5	0.004
18	77736798	A	C	18	79976798	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.99153316237132E-5	0.0
18	77736798	A	G	18	79976798	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.99153316237132E-5	0.0
18	77736798	A	T	18	79976798	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.07620641825897E-5	0.0
18	77736799	A	C	18	79976799	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.52173701430229E-5	0.006
18	77736799	A	G	18	79976799	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.52173701430229E-5	0.006
18	77736799	A	T	18	79976799	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.52173701430229E-5	0.008
18	77737590	T	A	18	79977590	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.A265T:p.I89F;	4.52297880296295E-5	0.0
18	77737590	T	C	18	79977590	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.A265G:p.I89V;	5.73659410988803E-5	0.0
18	77737590	T	G	18	79977590	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.A265C:p.I89L;	3.30477579161392E-5	0.0
18	77737591	A	C	18	79977591	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	synonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T264G:p.V88V;	5.13130212749451E-5	0.004
18	77737591	A	G	18	79977591	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	synonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T264C:p.V88V;	3.75913533836548E-5	0.004
18	77737591	A	T	18	79977591	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	synonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T264A:p.V88V;	2.06821912453833E-5	0.004
18	77737592	A	C	18	79977592	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T263G:p.V88G;	6.35270085422402E-4	0.122
18	77737592	A	G	18	79977592	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T263C:p.V88A;	0.0156944707972813	0.224
18	77737592	A	T	18	79977592	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T263A:p.V88D;	0.0147433183384474	0.164
18	77737593	C	A	18	79977593	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.G262T:p.V88F;	0.960709286974911	0.606
18	77737593	C	G	18	79977593	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.G262C:p.V88L;	0.970626114422342	0.638
18	77737593	C	T	18	79977593	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.G262A:p.V88I;	0.95380201558087	0.628
18	77737594	G	A	18	79977594	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	synonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.C261T:p.Y87Y;	3.0100013574212E-5	0.004
18	77737594	G	C	18	79977594	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	stopgain SNV	ENSG00000141759:ENST00000591711:exon2:c.C261G:p.Y87X;	4.04309489105629E-5	0.024
18	77737594	G	T	18	79977594	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	stopgain SNV	ENSG00000141759:ENST00000591711:exon2:c.C261A:p.Y87X;	1.54160773213021E-5	0.018
18	77737595	T	A	18	79977595	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.A260T:p.Y87F;	0.95550235894322	0.686
18	77737595	T	C	18	79977595	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.A260G:p.Y87C;	0.0217270916394893	0.152
18	77737595	T	G	18	79977595	y	n	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.A260C:p.Y87S;	0.992081448846453	0.734
18	77737596	A	C	18	79977596	y	n	splicing	TXNL4A(NM_006701:exon3:c.257+2T>G)	.	.	exonic;splicing	ENSG00000141759;ENSG00000141759(ENST00000269601:exon3:c.257+2T>G;ENST00000585474:exon3:c.44+2T>G;ENST00000592957:exon4:c.44+2T>G;ENST00000355491:exon3:c.257+2T>G;ENST00000585769:exon4:c.406+2T>G;ENST00000592837:exon2:c.44+2T>G)	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T259G:p.Y87D;	0.999992446697775	0.93
18	77737596	A	G	18	79977596	y	n	splicing	TXNL4A(NM_006701:exon3:c.257+2T>C)	.	.	exonic;splicing	ENSG00000141759;ENSG00000141759(ENST00000269601:exon3:c.257+2T>C;ENST00000585474:exon3:c.44+2T>C;ENST00000592957:exon4:c.44+2T>C;ENST00000355491:exon3:c.257+2T>C;ENST00000585769:exon4:c.406+2T>C;ENST00000592837:exon2:c.44+2T>C)	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T259C:p.Y87H;	0.988883133751273	0.616
18	77737596	A	T	18	79977596	y	n	splicing	TXNL4A(NM_006701:exon3:c.257+2T>A)	.	.	exonic;splicing	ENSG00000141759;ENSG00000141759(ENST00000269601:exon3:c.257+2T>A;ENST00000585474:exon3:c.44+2T>A;ENST00000592957:exon4:c.44+2T>A;ENST00000355491:exon3:c.257+2T>A;ENST00000585769:exon4:c.406+2T>A;ENST00000592837:exon2:c.44+2T>A)	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.T259A:p.Y87N;	0.999992446697775	0.93
18	77737597	C	A	18	79977597	y	n	splicing	TXNL4A(NM_006701:exon3:c.257+1G>T)	.	.	exonic;splicing	ENSG00000141759;ENSG00000141759(ENST00000269601:exon3:c.257+1G>T;ENST00000585474:exon3:c.44+1G>T;ENST00000592957:exon4:c.44+1G>T;ENST00000355491:exon3:c.257+1G>T;ENST00000585769:exon4:c.406+1G>T;ENST00000592837:exon2:c.44+1G>T)	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.G258T:p.R86S;	0.999990361384395	0.926
18	77737597	C	G	18	79977597	y	n	splicing	TXNL4A(NM_006701:exon3:c.257+1G>C)	.	.	exonic;splicing	ENSG00000141759;ENSG00000141759(ENST00000269601:exon3:c.257+1G>C;ENST00000585474:exon3:c.44+1G>C;ENST00000592957:exon4:c.44+1G>C;ENST00000355491:exon3:c.257+1G>C;ENST00000585769:exon4:c.406+1G>C;ENST00000592837:exon2:c.44+1G>C)	nonsynonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.G258C:p.R86S;	0.999990361384395	0.926
18	77737597	C	T	18	79977597	y	n	splicing	TXNL4A(NM_006701:exon3:c.257+1G>A)	.	.	exonic;splicing	ENSG00000141759;ENSG00000141759(ENST00000269601:exon3:c.257+1G>A;ENST00000585474:exon3:c.44+1G>A;ENST00000592957:exon4:c.44+1G>A;ENST00000355491:exon3:c.257+1G>A;ENST00000585769:exon4:c.406+1G>A;ENST00000592837:exon2:c.44+1G>A)	synonymous SNV	ENSG00000141759:ENST00000591711:exon2:c.G258A:p.R86R;	0.999990361384395	0.926
18	77737598	C	A	18	79977598	y	n	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.G257T:p.R86M;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon3:c.G44T:p.R15M;ENSG00000141759:ENST00000269601:exon2:c.G257T:p.R86M;ENSG00000141759:ENST00000355491:exon2:c.G257T:p.S86I;ENSG00000141759:ENST00000585474:exon2:c.G44T:p.R15M;ENSG00000141759:ENST00000592837:exon1:c.G44T:p.R15M;ENSG00000141759:ENST00000591711:exon2:c.G257T:p.R86M;	0.99995925990343	0.958
18	77737598	C	G	18	79977598	y	n	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.G257C:p.R86T;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon3:c.G44C:p.R15T;ENSG00000141759:ENST00000269601:exon2:c.G257C:p.R86T;ENSG00000141759:ENST00000355491:exon2:c.G257C:p.S86T;ENSG00000141759:ENST00000585474:exon2:c.G44C:p.R15T;ENSG00000141759:ENST00000592837:exon1:c.G44C:p.R15T;ENSG00000141759:ENST00000591711:exon2:c.G257C:p.R86T;	0.999958669879375	0.974
18	77737598	C	T	18	79977598	y	n	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.G257A:p.R86K;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon3:c.G44A:p.R15K;ENSG00000141759:ENST00000269601:exon2:c.G257A:p.R86K;ENSG00000141759:ENST00000355491:exon2:c.G257A:p.S86N;ENSG00000141759:ENST00000585474:exon2:c.G44A:p.R15K;ENSG00000141759:ENST00000592837:exon1:c.G44A:p.R15K;ENSG00000141759:ENST00000591711:exon2:c.G257A:p.R86K;	0.999854436759011	0.986
18	77737599	T	A	18	79977599	y	n	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.A256T:p.R86W;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon3:c.A43T:p.R15W;ENSG00000141759:ENST00000269601:exon2:c.A256T:p.R86W;ENSG00000141759:ENST00000355491:exon2:c.A256T:p.S86C;ENSG00000141759:ENST00000585474:exon2:c.A43T:p.R15W;ENSG00000141759:ENST00000592837:exon1:c.A43T:p.R15W;ENSG00000141759:ENST00000591711:exon2:c.A256T:p.R86W;	0.998110088567506	0.882
18	77737599	T	C	18	79977599	y	n	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.A256G:p.R86G;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon3:c.A43G:p.R15G;ENSG00000141759:ENST00000269601:exon2:c.A256G:p.R86G;ENSG00000141759:ENST00000355491:exon2:c.A256G:p.S86G;ENSG00000141759:ENST00000585474:exon2:c.A43G:p.R15G;ENSG00000141759:ENST00000592837:exon1:c.A43G:p.R15G;ENSG00000141759:ENST00000591711:exon2:c.A256G:p.R86G;	0.996076381090828	0.926
18	77737599	T	G	18	79977599	y	n	exonic	TXNL4A	synonymous SNV	TXNL4A:NM_006701:exon2:c.A256C:p.R86R;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000355491:exon2:c.A256C:p.S86R;	0.976223666562922	0.838
18	77737600	G	A	18	79977600	y	n	exonic	TXNL4A	synonymous SNV	TXNL4A:NM_006701:exon2:c.C255T:p.F85F;	exonic	ENSG00000141759	synonymous SNV	ENSG00000141759:ENST00000592957:exon3:c.C42T:p.F14F;ENSG00000141759:ENST00000269601:exon2:c.C255T:p.F85F;ENSG00000141759:ENST00000355491:exon2:c.C255T:p.F85F;ENSG00000141759:ENST00000585474:exon2:c.C42T:p.F14F;ENSG00000141759:ENST00000592837:exon1:c.C42T:p.F14F;ENSG00000141759:ENST00000591711:exon2:c.C255T:p.F85F;	0.984191316849901	0.68
18	77737600	G	C	18	79977600	y	n	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.C255G:p.F85L;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon3:c.C42G:p.F14L;ENSG00000141759:ENST00000269601:exon2:c.C255G:p.F85L;ENSG00000141759:ENST00000355491:exon2:c.C255G:p.F85L;ENSG00000141759:ENST00000585474:exon2:c.C42G:p.F14L;ENSG00000141759:ENST00000592837:exon1:c.C42G:p.F14L;ENSG00000141759:ENST00000591711:exon2:c.C255G:p.F85L;	0.890788146795692	0.554
18	77737600	G	T	18	79977600	y	n	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.C255A:p.F85L;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000592957:exon3:c.C42A:p.F14L;ENSG00000141759:ENST00000269601:exon2:c.C255A:p.F85L;ENSG00000141759:ENST00000355491:exon2:c.C255A:p.F85L;ENSG00000141759:ENST00000585474:exon2:c.C42A:p.F14L;ENSG00000141759:ENST00000592837:exon1:c.C42A:p.F14L;ENSG00000141759:ENST00000591711:exon2:c.C255A:p.F85L;	0.930826343283128	0.74
18	77737700	A	C	18	79977700	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.T155G:p.V52G;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon2:c.T155G:p.V52G;ENSG00000141759:ENST00000355491:exon2:c.T155G:p.V52G;ENSG00000141759:ENST00000591711:exon2:c.T155G:p.V52G;	0.264842091407902	0.47
18	77737700	A	G	18	79977700	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.T155C:p.V52A;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon2:c.T155C:p.V52A;ENSG00000141759:ENST00000355491:exon2:c.T155C:p.V52A;ENSG00000141759:ENST00000591711:exon2:c.T155C:p.V52A;	0.277577090464485	0.488
18	77737700	A	T	18	79977700	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.T155A:p.V52D;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon2:c.T155A:p.V52D;ENSG00000141759:ENST00000355491:exon2:c.T155A:p.V52D;ENSG00000141759:ENST00000591711:exon2:c.T155A:p.V52D;	0.264842091407902	0.484
18	77737701	C	A	18	79977701	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.G154T:p.V52F;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon2:c.G154T:p.V52F;ENSG00000141759:ENST00000355491:exon2:c.G154T:p.V52F;ENSG00000141759:ENST00000591711:exon2:c.G154T:p.V52F;	0.999442575211984	0.934
18	77737701	C	G	18	79977701	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.G154C:p.V52L;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon2:c.G154C:p.V52L;ENSG00000141759:ENST00000355491:exon2:c.G154C:p.V52L;ENSG00000141759:ENST00000591711:exon2:c.G154C:p.V52L;	0.999200049822458	0.858
18	77737701	C	T	18	79977701	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon2:c.G154A:p.V52I;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon2:c.G154A:p.V52I;ENSG00000141759:ENST00000355491:exon2:c.G154A:p.V52I;ENSG00000141759:ENST00000591711:exon2:c.G154A:p.V52I;	0.998496527100662	0.81
18	77737702	C	A	18	79977702	y	y	splicing	TXNL4A(NM_006701:exon3:c.154-1G>T)	.	.	splicing	ENSG00000141759(ENST00000269601:exon3:c.154-1G>T;ENST00000355491:exon3:c.154-1G>T;ENST00000585769:exon4:c.303-1G>T;ENST00000591711:exon3:c.154-1G>T;ENST00000586825:exon5:c.373-1G>T;ENST00000586295:exon4:c.462-1G>T)	.	.	0.999990361384395	0.926
18	77737702	C	G	18	79977702	y	y	splicing	TXNL4A(NM_006701:exon3:c.154-1G>C)	.	.	splicing	ENSG00000141759(ENST00000269601:exon3:c.154-1G>C;ENST00000355491:exon3:c.154-1G>C;ENST00000585769:exon4:c.303-1G>C;ENST00000591711:exon3:c.154-1G>C;ENST00000586825:exon5:c.373-1G>C;ENST00000586295:exon4:c.462-1G>C)	.	.	0.999990361384395	0.926
18	77737702	C	T	18	79977702	y	y	splicing	TXNL4A(NM_006701:exon3:c.154-1G>A)	.	.	splicing	ENSG00000141759(ENST00000269601:exon3:c.154-1G>A;ENST00000355491:exon3:c.154-1G>A;ENST00000585769:exon4:c.303-1G>A;ENST00000591711:exon3:c.154-1G>A;ENST00000586825:exon5:c.373-1G>A;ENST00000586295:exon4:c.462-1G>A)	.	.	0.999990361384395	0.926
18	77737703	T	A	18	79977703	y	y	splicing	TXNL4A(NM_006701:exon3:c.154-2A>T)	.	.	splicing	ENSG00000141759(ENST00000269601:exon3:c.154-2A>T;ENST00000355491:exon3:c.154-2A>T;ENST00000585769:exon4:c.303-2A>T;ENST00000591711:exon3:c.154-2A>T;ENST00000586825:exon5:c.373-2A>T;ENST00000586295:exon4:c.462-2A>T)	.	.	0.999992446697775	0.932
18	77737703	T	C	18	79977703	y	y	splicing	TXNL4A(NM_006701:exon3:c.154-2A>G)	.	.	splicing	ENSG00000141759(ENST00000269601:exon3:c.154-2A>G;ENST00000355491:exon3:c.154-2A>G;ENST00000585769:exon4:c.303-2A>G;ENST00000591711:exon3:c.154-2A>G;ENST00000586825:exon5:c.373-2A>G;ENST00000586295:exon4:c.462-2A>G)	.	.	0.999992446697775	0.932
18	77737703	T	G	18	79977703	y	y	splicing	TXNL4A(NM_006701:exon3:c.154-2A>C)	.	.	splicing	ENSG00000141759(ENST00000269601:exon3:c.154-2A>C;ENST00000355491:exon3:c.154-2A>C;ENST00000585769:exon4:c.303-2A>C;ENST00000591711:exon3:c.154-2A>C;ENST00000586825:exon5:c.373-2A>C;ENST00000586295:exon4:c.462-2A>C)	.	.	0.999992446697775	0.932
18	77737704	A	C	18	79977704	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.729146735415558	0.588
18	77737704	A	G	18	79977704	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	1.43785104463744E-4	0.018
18	77737704	A	T	18	79977704	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.00384926648573456	0.14
18	77737705	A	C	18	79977705	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	1.07443385349146E-4	0.008
18	77737705	A	G	18	79977705	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	3.80405568793762E-5	0.004
18	77737705	A	T	18	79977705	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	9.98906058403411E-5	0.002
18	77737706	A	C	18	79977706	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.611889482671361	0.608
18	77737706	A	G	18	79977706	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.00298358854273334	0.03
18	77737706	A	T	18	79977706	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.480022997262212	0.58
18	77737707	A	C	18	79977707	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.203126598483078	0.372
18	77737707	A	G	18	79977707	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	1.95652240882968E-4	0.016
18	77737707	A	T	18	79977707	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.101249707647877	0.338
18	77737708	G	A	18	79977708	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	3.19404206227756E-5	0.0
18	77737708	G	C	18	79977708	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	1.21123169434802E-4	0.038
18	77737708	G	T	18	79977708	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	1.14936805966403E-4	0.032
18	77737709	G	A	18	79977709	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	8.00517439100112E-5	0.0
18	77737709	G	C	18	79977709	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	2.97744455038817E-4	0.028
18	77737709	G	T	18	79977709	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	3.62117046860957E-4	0.032
18	77737710	A	C	18	79977710	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.613437338521332	0.57
18	77737710	A	G	18	79977710	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.00748829128917317	0.064
18	77737710	A	T	18	79977710	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.856084109549207	0.636
18	77737711	G	A	18	79977711	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	1.76050288436984E-4	0.066
18	77737711	G	C	18	79977711	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	2.96444834565969E-4	0.026
18	77737711	G	T	18	79977711	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	5.18088801812265E-4	0.058
18	77737712	A	C	18	79977712	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.999571263336623	0.91
18	77737712	A	G	18	79977712	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.0784361707497475	0.154
18	77737712	A	T	18	79977712	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.891696850129422	0.63
18	77737713	T	A	18	79977713	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	2.98286628441448E-4	0.01
18	77737713	T	C	18	79977713	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	0.916465554283944	0.67
18	77737713	T	G	18	79977713	y	y	intronic	TXNL4A	.	.	UTR5	ENSG00000141759	.	.	2.02616684634756E-4	0.008
18	77739325	T	A	18	79979325	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.62829891511816E-5	0.008
18	77739325	T	C	18	79979325	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.18905158676629E-5	0.02
18	77739325	T	G	18	79979325	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.18905158676629E-5	0.02
18	77739326	A	C	18	79979326	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.18905158676629E-5	0.016
18	77739326	A	G	18	79979326	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.18905158676629E-5	0.016
18	77739326	A	T	18	79979326	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.62829891511816E-5	0.024
18	77739327	C	A	18	79979327	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.76502774581184E-5	0.0
18	77739327	C	G	18	79979327	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.76502774581184E-5	0.0
18	77739327	C	T	18	79979327	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.76502774581184E-5	0.0
18	77739328	T	A	18	79979328	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.18905158676629E-5	0.02
18	77739328	T	C	18	79979328	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.18905158676629E-5	0.018
18	77739328	T	G	18	79979328	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.18905158676629E-5	0.018
18	77739329	T	A	18	79979329	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.18905158676629E-5	0.016
18	77739329	T	C	18	79979329	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.60742385600787E-5	0.014
18	77739329	T	G	18	79979329	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.43179510623962E-5	0.014
18	77739330	T	A	18	79979330	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.10250552304391E-5	0.002
18	77739330	T	C	18	79979330	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.10250552304391E-5	0.002
18	77739330	T	G	18	79979330	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.10250552304391E-5	0.026
18	77739331	A	C	18	79979331	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.461+2T>G)	.	.	1.76502774581184E-5	0.0
18	77739331	A	G	18	79979331	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.461+2T>C)	.	.	1.76502774581184E-5	0.0
18	77739331	A	T	18	79979331	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.461+2T>A)	.	.	1.76502774581184E-5	0.0
18	77739332	C	A	18	79979332	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.461+1G>T)	.	.	1.14267203131726E-5	0.0
18	77739332	C	G	18	79979332	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.461+1G>C)	.	.	1.14267203131726E-5	0.0
18	77739332	C	T	18	79979332	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.461+1G>A)	.	.	1.76502774581184E-5	0.02
18	77739333	C	A	18	79979333	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.60742385600787E-5	0.014
18	77739333	C	G	18	79979333	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.60742385600787E-5	0.014
18	77739333	C	T	18	79979333	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.60742385600787E-5	0.014
18	77739334	A	C	18	79979334	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.60742385600787E-5	0.01
18	77739334	A	G	18	79979334	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.60742385600787E-5	0.01
18	77739334	A	T	18	79979334	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	6.18905158676629E-5	0.018
18	77739335	T	A	18	79979335	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	6.18905158676629E-5	0.018
18	77739335	T	C	18	79979335	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.60742385600787E-5	0.01
18	77739335	T	G	18	79979335	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.60742385600787E-5	0.01
18	77739639	A	C	18	79979639	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000586295:exon2:c.T155G:p.F52C;	6.59869935472987E-5	0.002
18	77739639	A	G	18	79979639	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000586295:exon2:c.T155C:p.F52S;	6.59869935472987E-5	0.002
18	77739639	A	T	18	79979639	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000586295:exon2:c.T155A:p.F52Y;	3.0081866464866E-5	0.002
18	77739640	A	C	18	79979640	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000586295:exon2:c.T154G:p.F52V;	6.59869935472987E-5	0.002
18	77739640	A	G	18	79979640	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000586295:exon2:c.T154C:p.F52L;	6.59869935472987E-5	0.002
18	77739640	A	T	18	79979640	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000586295:exon2:c.T154A:p.F52I;	3.0081866464866E-5	0.002
18	77739641	C	A	18	79979641	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.154-1G>T)	.	.	1.35043111279135E-4	0.004
18	77739641	C	G	18	79979641	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.154-1G>C)	.	.	1.35043111279135E-4	0.002
18	77739641	C	T	18	79979641	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.154-1G>A)	.	.	2.45427510716187E-4	0.002
18	77739642	T	A	18	79979642	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.154-2A>T)	.	.	6.59869935472987E-5	0.002
18	77739642	T	C	18	79979642	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.154-2A>G)	.	.	6.59869935472987E-5	0.002
18	77739642	T	G	18	79979642	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586295:exon3:c.154-2A>C)	.	.	6.59869935472987E-5	0.002
18	77739643	G	A	18	79979643	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.35043111279135E-4	0.004
18	77739643	G	C	18	79979643	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.35043111279135E-4	0.004
18	77739643	G	T	18	79979643	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.35043111279135E-4	0.002
18	77739644	T	A	18	79979644	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.59869935472987E-5	0.002
18	77739644	T	C	18	79979644	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.59869935472987E-5	0.002
18	77739644	T	G	18	79979644	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.59869935472987E-5	0.002
18	77739645	G	A	18	79979645	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.35043111279135E-4	0.012
18	77739645	G	C	18	79979645	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.80576877278223E-4	0.008
18	77739645	G	T	18	79979645	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.80576877278223E-4	0.012
18	77739646	A	C	18	79979646	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.63055045914417E-5	0.004
18	77739646	A	G	18	79979646	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.63055045914417E-5	0.004
18	77739646	A	T	18	79979646	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.63055045914417E-5	0.002
18	77739647	G	A	18	79979647	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.80576877278223E-4	0.01
18	77739647	G	C	18	79979647	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.60815764102212E-5	0.002
18	77739647	G	T	18	79979647	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.60815764102212E-5	0.006
18	77739648	C	A	18	79979648	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.78864525412067E-5	0.0
18	77739648	C	G	18	79979648	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.78864525412067E-5	0.0
18	77739648	C	T	18	79979648	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.78864525412067E-5	0.0
18	77739649	C	A	18	79979649	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.60815764102212E-5	0.002
18	77739649	C	G	18	79979649	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.60815764102212E-5	0.002
18	77739649	C	T	18	79979649	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.60815764102212E-5	0.002
18	77739650	A	C	18	79979650	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.78864525412067E-5	0.0
18	77739650	A	G	18	79979650	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.78864525412067E-5	0.0
18	77739650	A	T	18	79979650	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.08802802279601E-5	0.0
18	77739651	A	C	18	79979651	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.04531790384734E-5	0.006
18	77739651	A	G	18	79979651	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.04531790384734E-5	0.006
18	77739651	A	T	18	79979651	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.85485922524241E-5	0.008
18	77739652	T	A	18	79979652	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.85485922524241E-5	0.008
18	77739652	T	C	18	79979652	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.04531790384734E-5	0.004
18	77739652	T	G	18	79979652	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.04531790384734E-5	0.004
18	77745789	T	A	18	79985789	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.176589041527266	0.492
18	77745789	T	C	18	79985789	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0678445364386315	0.37
18	77745789	T	G	18	79985789	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0678445364386315	0.37
18	77745790	T	A	18	79985790	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00214220085333903	0.062
18	77745790	T	C	18	79985790	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00214220085333903	0.05
18	77745790	T	G	18	79985790	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00214220085333903	0.05
18	77745791	A	C	18	79985791	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00168497874442517	0.052
18	77745791	A	G	18	79985791	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00168497874442517	0.052
18	77745791	A	T	18	79985791	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0024570345743595	0.096
18	77745792	C	A	18	79985792	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.582721825105549	0.652
18	77745792	C	G	18	79985792	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.488997018853306	0.566
18	77745792	C	T	18	79985792	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.582721825105549	0.718
18	77745793	T	A	18	79985793	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.431173383185562	0.592
18	77745793	T	C	18	79985793	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.366303140707352	0.56
18	77745793	T	G	18	79985793	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.366303140707352	0.56
18	77745794	C	A	18	79985794	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00190326319299698	0.036
18	77745794	C	G	18	79985794	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0011897852140894	0.04
18	77745794	C	T	18	79985794	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00190326319299698	0.04
18	77745795	A	C	18	79985795	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.372+2T>G)	.	.	0.00603609744316175	0.148
18	77745795	A	G	18	79985795	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.372+2T>C)	.	.	0.00288283202615309	0.132
18	77745795	A	T	18	79985795	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.372+2T>A)	.	.	0.00837345122345792	0.13
18	77745796	C	A	18	79985796	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.372+1G>T)	.	.	5.27556633719487E-5	0.028
18	77745796	C	G	18	79985796	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.372+1G>C)	.	.	5.27556633719487E-5	0.028
18	77745796	C	T	18	79985796	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.372+1G>A)	.	.	5.99757495416887E-5	0.05
18	77745797	T	A	18	79985797	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.0109518311243325	0.144
18	77745797	T	C	18	79985797	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.0093393208969761	0.138
18	77745797	T	G	18	79985797	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.0093393208969761	0.138
18	77745798	T	A	18	79985798	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.34427640288581E-5	0.038
18	77745798	T	C	18	79985798	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	9.21165313661391E-6	0.02
18	77745798	T	G	18	79985798	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	9.21165313661391E-6	0.02
18	77745799	T	A	18	79985799	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.431173383185562	0.616
18	77745799	T	C	18	79985799	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.431173383185562	0.644
18	77745799	T	G	18	79985799	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.431173383185562	0.646
18	77745865	T	A	18	79985865	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.432280797039901	0.642
18	77745865	T	C	18	79985865	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.432280797039901	0.662
18	77745865	T	G	18	79985865	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	0.432280797039901	0.662
18	77745866	T	A	18	79985866	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.66741283969396E-4	0.142
18	77745866	T	C	18	79985866	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.66741283969396E-4	0.138
18	77745866	T	G	18	79985866	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.66741283969396E-4	0.138
18	77745867	C	A	18	79985867	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.303-1G>T)	.	.	0.83419820067041	0.772
18	77745867	C	G	18	79985867	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.303-1G>C)	.	.	0.83419820067041	0.774
18	77745867	C	T	18	79985867	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.303-1G>A)	.	.	0.83419820067041	0.768
18	77745868	T	A	18	79985868	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.303-2A>T)	.	.	0.554641586943532	0.604
18	77745868	T	C	18	79985868	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.303-2A>G)	.	.	0.430441317051627	0.576
18	77745868	T	G	18	79985868	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000586825:exon4:c.303-2A>C)	.	.	0.430441317051627	0.578
18	77745869	G	A	18	79985869	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.83419820067041	0.768
18	77745869	G	C	18	79985869	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.83419820067041	0.774
18	77745869	G	T	18	79985869	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.83419820067041	0.778
18	77745870	C	A	18	79985870	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0180806011847457	0.208
18	77745870	C	G	18	79985870	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0180806011847457	0.17
18	77745870	C	T	18	79985870	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0180806011847457	0.242
18	77745871	A	C	18	79985871	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0123145190451646	0.198
18	77745871	A	G	18	79985871	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0123145190451646	0.198
18	77745871	A	T	18	79985871	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0123145190451646	0.176
18	77745872	C	A	18	79985872	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00224913452196896	0.098
18	77745872	C	G	18	79985872	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.17237093756816E-4	0.084
18	77745872	C	T	18	79985872	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00328287075630175	0.094
18	77745873	A	C	18	79985873	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.45703234946388E-5	0.034
18	77745873	A	G	18	79985873	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.45703234946388E-5	0.034
18	77745873	A	T	18	79985873	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.45703234946388E-5	0.036
18	77745874	G	A	18	79985874	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.83419820067041	0.77
18	77745874	G	C	18	79985874	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.810732340755224	0.756
18	77745874	G	T	18	79985874	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.810732340755224	0.756
18	77745875	G	A	18	79985875	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.810732340755224	0.754
18	77745875	G	C	18	79985875	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.736149466383663	0.746
18	77745875	G	T	18	79985875	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.793250944434475	0.742
18	77745876	G	A	18	79985876	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00190326319299698	0.036
18	77745876	G	C	18	79985876	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.06020355763932E-4	0.064
18	77745876	G	T	18	79985876	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.0011897852140894	0.04
18	77745877	A	C	18	79985877	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.54918145166468E-4	0.016
18	77745877	A	G	18	79985877	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.54918145166468E-4	0.016
18	77745877	A	T	18	79985877	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.84369370377634E-4	0.022
18	77745878	A	C	18	79985878	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.31558610117425E-4	0.048
18	77745878	A	G	18	79985878	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.1054246079668E-4	0.044
18	77745878	A	T	18	79985878	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.82196535232019E-4	0.084
18	77746594	A	C	18	79986594	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.24975915077222E-5	0.0
18	77746594	A	G	18	79986594	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.24975915077222E-5	0.0
18	77746594	A	T	18	79986594	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.24975915077222E-5	0.0
18	77746595	C	A	18	79986595	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.80283194928756E-5	0.0
18	77746595	C	G	18	79986595	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.80283194928756E-5	0.0
18	77746595	C	T	18	79986595	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.80283194928756E-5	0.0
18	77746596	A	C	18	79986596	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.09395893123295E-5	0.002
18	77746596	A	G	18	79986596	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.09395893123295E-5	0.002
18	77746596	A	T	18	79986596	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.09395893123295E-5	0.002
18	77746597	C	A	18	79986597	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.59011002566824E-5	0.018
18	77746597	C	G	18	79986597	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.59011002566824E-5	0.014
18	77746597	C	T	18	79986597	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.59011002566824E-5	0.016
18	77746598	T	A	18	79986598	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.82827935381688E-5	0.002
18	77746598	T	C	18	79986598	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.82827935381688E-5	0.002
18	77746598	T	G	18	79986598	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.82827935381688E-5	0.002
18	77746599	T	A	18	79986599	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.08802802279601E-5	0.004
18	77746599	T	C	18	79986599	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.78864525412067E-5	0.0
18	77746599	T	G	18	79986599	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.78864525412067E-5	0.0
18	77746600	A	C	18	79986600	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.302+2T>G;ENST00000586825:exon3:c.302+2T>G)	.	.	9.9744004704441E-5	0.0
18	77746600	A	G	18	79986600	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.302+2T>C;ENST00000586825:exon3:c.302+2T>C)	.	.	9.9744004704441E-5	0.0
18	77746600	A	T	18	79986600	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.302+2T>A;ENST00000586825:exon3:c.302+2T>A)	.	.	4.54717026264154E-5	0.0
18	77746601	C	A	18	79986601	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.302+1G>T;ENST00000586825:exon3:c.302+1G>T)	.	.	6.08692400722682E-5	0.002
18	77746601	C	G	18	79986601	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.302+1G>C;ENST00000586825:exon3:c.302+1G>C)	.	.	6.08692400722682E-5	0.0
18	77746601	C	T	18	79986601	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.302+1G>A;ENST00000586825:exon3:c.302+1G>A)	.	.	5.04349982970396E-5	0.0
18	77746602	A	C	18	79986602	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	5.86075475573093E-5	0.0
18	77746602	A	G	18	79986602	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	5.86075475573093E-5	0.0
18	77746602	A	T	18	79986602	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	1.06520082605731E-4	0.0
18	77746603	T	A	18	79986603	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	5.25211152755068E-5	0.0
18	77746603	T	C	18	79986603	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	9.54583771157E-5	0.0
18	77746603	T	G	18	79986603	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	9.54583771157E-5	0.0
18	77746604	T	A	18	79986604	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.33815804894828E-5	0.0
18	77746604	T	C	18	79986604	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.33815804894828E-5	0.0
18	77746604	T	G	18	79986604	n	y	intronic	TXNL4A	.	.	UTR3	ENSG00000141759	.	.	2.33815804894828E-5	0.0
18	77746749	A	C	18	79986749	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000585769:exon2:c.T155G:p.V52G;ENSG00000141759:ENST00000586825:exon2:c.T155G:p.V52G;	8.55453923326756E-5	0.0
18	77746749	A	G	18	79986749	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000585769:exon2:c.T155C:p.V52A;ENSG00000141759:ENST00000586825:exon2:c.T155C:p.V52A;	8.55453923326756E-5	0.002
18	77746749	A	T	18	79986749	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000585769:exon2:c.T155A:p.V52E;ENSG00000141759:ENST00000586825:exon2:c.T155A:p.V52E;	7.76074896990115E-5	0.0
18	77746750	C	A	18	79986750	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000585769:exon2:c.G154T:p.V52L;ENSG00000141759:ENST00000586825:exon2:c.G154T:p.V52L;	4.45847052586671E-4	0.034
18	77746750	C	G	18	79986750	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000585769:exon2:c.G154C:p.V52L;ENSG00000141759:ENST00000586825:exon2:c.G154C:p.V52L;	4.9143097648311E-4	0.038
18	77746750	C	T	18	79986750	n	y	intronic	TXNL4A	.	.	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000585769:exon2:c.G154A:p.V52M;ENSG00000141759:ENST00000586825:exon2:c.G154A:p.V52M;	4.45847052586671E-4	0.034
18	77746751	C	A	18	79986751	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.154-1G>T;ENST00000586825:exon3:c.154-1G>T)	.	.	1.96095639936345E-4	0.014
18	77746751	C	G	18	79986751	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.154-1G>C;ENST00000586825:exon3:c.154-1G>C)	.	.	1.75019528783004E-4	0.038
18	77746751	C	T	18	79986751	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.154-1G>A;ENST00000586825:exon3:c.154-1G>A)	.	.	1.96095639936345E-4	0.012
18	77746752	T	A	18	79986752	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.154-2A>T;ENST00000586825:exon3:c.154-2A>T)	.	.	2.41695466949675E-4	0.008
18	77746752	T	C	18	79986752	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.154-2A>G;ENST00000586825:exon3:c.154-2A>G)	.	.	2.67199765429517E-4	0.002
18	77746752	T	G	18	79986752	n	y	intronic	TXNL4A	.	.	splicing	ENSG00000141759(ENST00000585769:exon3:c.154-2A>C;ENST00000586825:exon3:c.154-2A>C)	.	.	2.67199765429517E-4	0.002
18	77746753	G	A	18	79986753	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.20200958252478E-4	0.002
18	77746753	G	C	18	79986753	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.2331471065878E-4	0.0
18	77746753	G	T	18	79986753	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	9.52947485197489E-5	0.0
18	77746754	C	A	18	79986754	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.92975791961733E-4	0.01
18	77746754	C	G	18	79986754	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.92975791961733E-4	0.024
18	77746754	C	T	18	79986754	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.92975791961733E-4	0.014
18	77746755	A	C	18	79986755	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.84209062630086E-4	0.006
18	77746755	A	G	18	79986755	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.84209062630086E-4	0.006
18	77746755	A	T	18	79986755	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.67117520130901E-4	0.002
18	77746756	A	C	18	79986756	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.52408431330711E-4	0.002
18	77746756	A	G	18	79986756	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.52408431330711E-4	0.012
18	77746756	A	T	18	79986756	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.33698758487849E-4	0.014
18	77746757	T	A	18	79986757	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.400435333227E-5	0.03
18	77746757	T	C	18	79986757	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	9.82671368281437E-5	0.022
18	77746757	T	G	18	79986757	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	9.82671368281437E-5	0.022
18	77746758	G	A	18	79986758	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.63915916572906E-4	0.018
18	77746758	G	C	18	79986758	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.75275693303219E-4	0.012
18	77746758	G	T	18	79986758	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.33950268484782E-4	0.002
18	77746759	T	A	18	79986759	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.17780405200051E-4	0.008
18	77746759	T	C	18	79986759	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.01222157793641E-4	0.004
18	77746759	T	G	18	79986759	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.01222157793641E-4	0.004
18	77746760	A	C	18	79986760	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00331608724839445	0.062
18	77746760	A	G	18	79986760	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00331608724839445	0.062
18	77746760	A	T	18	79986760	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00331608724839445	0.086
18	77746761	G	A	18	79986761	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.98074210530117E-4	0.006
18	77746761	G	C	18	79986761	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.31043779912406E-4	0.034
18	77746761	G	T	18	79986761	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.79344297576126E-4	0.006
18	77746762	A	C	18	79986762	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.73156701739785E-4	0.02
18	77746762	A	G	18	79986762	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.73156701739785E-4	0.02
18	77746762	A	T	18	79986762	n	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.71355608273615E-4	0.018
18	77748232	C	A	18	79988232	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.81754676311964E-4	0.042
18	77748232	C	G	18	79988232	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.88083575652711E-4	0.046
18	77748232	C	T	18	79988232	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.81754676311964E-4	0.04
18	77748233	G	A	18	79988233	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.47234047475461E-5	0.0
18	77748233	G	C	18	79988233	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	5.50708352480861E-5	0.0
18	77748233	G	T	18	79988233	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	2.80035508515248E-5	0.008
18	77748234	C	A	18	79988234	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.3768997752904E-5	0.044
18	77748234	C	G	18	79988234	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	7.14606826445292E-5	0.06
18	77748234	C	T	18	79988234	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.80488064981874E-4	0.01
18	77748235	G	A	18	79988235	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.00136975607594427	0.056
18	77748235	G	C	18	79988235	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	3.44474270296318E-4	0.086
18	77748235	G	T	18	79988235	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.09075726550935E-5	0.03
18	77748236	C	A	18	79988236	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	4.69224621598181E-5	0.002
18	77748236	C	G	18	79988236	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	6.95287075568904E-5	0.116
18	77748236	C	T	18	79988236	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	1.01402522753762E-4	0.048
18	77748237	T	A	18	79988237	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.999973433729317	0.926
18	77748237	T	C	18	79988237	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.893308749433339	0.59
18	77748237	T	G	18	79988237	y	y	intronic	TXNL4A	.	.	intronic	ENSG00000141759	.	.	0.999958044215442	0.882
18	77748238	A	C	18	79988238	y	y	splicing	TXNL4A(NM_006701:exon2:c.153+2T>G)	.	.	splicing	ENSG00000141759(ENST00000269601:exon2:c.153+2T>G;ENST00000588162:exon2:c.153+2T>G;ENST00000355491:exon2:c.153+2T>G;ENST00000585769:exon2:c.153+2T>G;ENST00000591711:exon2:c.153+2T>G;ENST00000586825:exon2:c.153+2T>G;ENST00000586295:exon2:c.153+2T>G)	.	.	0.999988781533968	0.956
18	77748238	A	G	18	79988238	y	y	splicing	TXNL4A(NM_006701:exon2:c.153+2T>C)	.	.	splicing	ENSG00000141759(ENST00000269601:exon2:c.153+2T>C;ENST00000588162:exon2:c.153+2T>C;ENST00000355491:exon2:c.153+2T>C;ENST00000585769:exon2:c.153+2T>C;ENST00000591711:exon2:c.153+2T>C;ENST00000586825:exon2:c.153+2T>C;ENST00000586295:exon2:c.153+2T>C)	.	.	0.978109602403056	0.554
18	77748238	A	T	18	79988238	y	y	splicing	TXNL4A(NM_006701:exon2:c.153+2T>A)	.	.	splicing	ENSG00000141759(ENST00000269601:exon2:c.153+2T>A;ENST00000588162:exon2:c.153+2T>A;ENST00000355491:exon2:c.153+2T>A;ENST00000585769:exon2:c.153+2T>A;ENST00000591711:exon2:c.153+2T>A;ENST00000586825:exon2:c.153+2T>A;ENST00000586295:exon2:c.153+2T>A)	.	.	0.999978986619032	0.942
18	77748239	C	A	18	79988239	y	y	splicing	TXNL4A(NM_006701:exon2:c.153+1G>T)	.	.	splicing	ENSG00000141759(ENST00000269601:exon2:c.153+1G>T;ENST00000588162:exon2:c.153+1G>T;ENST00000355491:exon2:c.153+1G>T;ENST00000585769:exon2:c.153+1G>T;ENST00000591711:exon2:c.153+1G>T;ENST00000586825:exon2:c.153+1G>T;ENST00000586295:exon2:c.153+1G>T)	.	.	0.999938422912956	0.966
18	77748239	C	G	18	79988239	y	y	splicing	TXNL4A(NM_006701:exon2:c.153+1G>C)	.	.	splicing	ENSG00000141759(ENST00000269601:exon2:c.153+1G>C;ENST00000588162:exon2:c.153+1G>C;ENST00000355491:exon2:c.153+1G>C;ENST00000585769:exon2:c.153+1G>C;ENST00000591711:exon2:c.153+1G>C;ENST00000586825:exon2:c.153+1G>C;ENST00000586295:exon2:c.153+1G>C)	.	.	0.999938422912956	0.966
18	77748239	C	T	18	79988239	y	y	splicing	TXNL4A(NM_006701:exon2:c.153+1G>A)	.	.	splicing	ENSG00000141759(ENST00000269601:exon2:c.153+1G>A;ENST00000588162:exon2:c.153+1G>A;ENST00000355491:exon2:c.153+1G>A;ENST00000585769:exon2:c.153+1G>A;ENST00000591711:exon2:c.153+1G>A;ENST00000586825:exon2:c.153+1G>A;ENST00000586295:exon2:c.153+1G>A)	.	.	0.999938422912956	0.962
18	77748240	C	A	18	79988240	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon1:c.G153T:p.K51N;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon1:c.G153T:p.K51N;ENSG00000141759:ENST00000355491:exon1:c.G153T:p.K51N;ENSG00000141759:ENST00000588162:exon1:c.G153T:p.K51N;ENSG00000141759:ENST00000591711:exon1:c.G153T:p.K51N;ENSG00000141759:ENST00000585769:exon1:c.G153T:p.K51N;ENSG00000141759:ENST00000586825:exon1:c.G153T:p.K51N;ENSG00000141759:ENST00000586295:exon1:c.G153T:p.K51N;	0.999989845216487	1.0
18	77748240	C	G	18	79988240	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon1:c.G153C:p.K51N;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon1:c.G153C:p.K51N;ENSG00000141759:ENST00000355491:exon1:c.G153C:p.K51N;ENSG00000141759:ENST00000588162:exon1:c.G153C:p.K51N;ENSG00000141759:ENST00000591711:exon1:c.G153C:p.K51N;ENSG00000141759:ENST00000585769:exon1:c.G153C:p.K51N;ENSG00000141759:ENST00000586825:exon1:c.G153C:p.K51N;ENSG00000141759:ENST00000586295:exon1:c.G153C:p.K51N;	0.99999675263713	1.0
18	77748240	C	T	18	79988240	y	y	exonic	TXNL4A	synonymous SNV	TXNL4A:NM_006701:exon1:c.G153A:p.K51K;	exonic	ENSG00000141759	synonymous SNV	ENSG00000141759:ENST00000269601:exon1:c.G153A:p.K51K;ENSG00000141759:ENST00000355491:exon1:c.G153A:p.K51K;ENSG00000141759:ENST00000588162:exon1:c.G153A:p.K51K;ENSG00000141759:ENST00000591711:exon1:c.G153A:p.K51K;ENSG00000141759:ENST00000585769:exon1:c.G153A:p.K51K;ENSG00000141759:ENST00000586825:exon1:c.G153A:p.K51K;ENSG00000141759:ENST00000586295:exon1:c.G153A:p.K51K;	0.999974834779453	1.0
18	77748241	T	A	18	79988241	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon1:c.A152T:p.K51M;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon1:c.A152T:p.K51M;ENSG00000141759:ENST00000355491:exon1:c.A152T:p.K51M;ENSG00000141759:ENST00000588162:exon1:c.A152T:p.K51M;ENSG00000141759:ENST00000591711:exon1:c.A152T:p.K51M;ENSG00000141759:ENST00000585769:exon1:c.A152T:p.K51M;ENSG00000141759:ENST00000586825:exon1:c.A152T:p.K51M;ENSG00000141759:ENST00000586295:exon1:c.A152T:p.K51M;	0.999968587376583	1.0
18	77748241	T	C	18	79988241	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon1:c.A152G:p.K51R;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon1:c.A152G:p.K51R;ENSG00000141759:ENST00000355491:exon1:c.A152G:p.K51R;ENSG00000141759:ENST00000588162:exon1:c.A152G:p.K51R;ENSG00000141759:ENST00000591711:exon1:c.A152G:p.K51R;ENSG00000141759:ENST00000585769:exon1:c.A152G:p.K51R;ENSG00000141759:ENST00000586825:exon1:c.A152G:p.K51R;ENSG00000141759:ENST00000586295:exon1:c.A152G:p.K51R;	0.99981570965918	0.862
18	77748241	T	G	18	79988241	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon1:c.A152C:p.K51T;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon1:c.A152C:p.K51T;ENSG00000141759:ENST00000355491:exon1:c.A152C:p.K51T;ENSG00000141759:ENST00000588162:exon1:c.A152C:p.K51T;ENSG00000141759:ENST00000591711:exon1:c.A152C:p.K51T;ENSG00000141759:ENST00000585769:exon1:c.A152C:p.K51T;ENSG00000141759:ENST00000586825:exon1:c.A152C:p.K51T;ENSG00000141759:ENST00000586295:exon1:c.A152C:p.K51T;	0.999603751668198	0.974
18	77748242	T	A	18	79988242	y	y	exonic	TXNL4A	stopgain SNV	TXNL4A:NM_006701:exon1:c.A151T:p.K51X;	exonic	ENSG00000141759	stopgain SNV	ENSG00000141759:ENST00000269601:exon1:c.A151T:p.K51X;ENSG00000141759:ENST00000355491:exon1:c.A151T:p.K51X;ENSG00000141759:ENST00000588162:exon1:c.A151T:p.K51X;ENSG00000141759:ENST00000591711:exon1:c.A151T:p.K51X;ENSG00000141759:ENST00000585769:exon1:c.A151T:p.K51X;ENSG00000141759:ENST00000586825:exon1:c.A151T:p.K51X;ENSG00000141759:ENST00000586295:exon1:c.A151T:p.K51X;	0.979011244709404	0.814
18	77748242	T	C	18	79988242	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon1:c.A151G:p.K51E;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon1:c.A151G:p.K51E;ENSG00000141759:ENST00000355491:exon1:c.A151G:p.K51E;ENSG00000141759:ENST00000588162:exon1:c.A151G:p.K51E;ENSG00000141759:ENST00000591711:exon1:c.A151G:p.K51E;ENSG00000141759:ENST00000585769:exon1:c.A151G:p.K51E;ENSG00000141759:ENST00000586825:exon1:c.A151G:p.K51E;ENSG00000141759:ENST00000586295:exon1:c.A151G:p.K51E;	0.00323593735869507	0.08
18	77748242	T	G	18	79988242	y	y	exonic	TXNL4A	nonsynonymous SNV	TXNL4A:NM_006701:exon1:c.A151C:p.K51Q;	exonic	ENSG00000141759	nonsynonymous SNV	ENSG00000141759:ENST00000269601:exon1:c.A151C:p.K51Q;ENSG00000141759:ENST00000355491:exon1:c.A151C:p.K51Q;ENSG00000141759:ENST00000588162:exon1:c.A151C:p.K51Q;ENSG00000141759:ENST00000591711:exon1:c.A151C:p.K51Q;ENSG00000141759:ENST00000585769:exon1:c.A151C:p.K51Q;ENSG00000141759:ENST00000586825:exon1:c.A151C:p.K51Q;ENSG00000141759:ENST00000586295:exon1:c.A151C:p.K51Q;	2.97816375670317E-4	0.006
18	77793843	C	A	18	80033843	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	8.49702646665041E-5	0.006
18	77793843	C	G	18	80033843	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	8.49702646665041E-5	0.004
18	77793843	C	T	18	80033843	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	6.35428655471156E-5	0.012
18	77793844	T	A	18	80033844	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	3.90066968634554E-5	0.004
18	77793844	T	C	18	80033844	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	3.90066968634554E-5	0.002
18	77793844	T	G	18	80033844	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	3.90066968634554E-5	0.002
18	77793845	G	A	18	80033845	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	5.15941453541388E-5	0.006
18	77793845	G	C	18	80033845	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	6.89925739660516E-5	0.006
18	77793845	G	T	18	80033845	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	6.89925739660516E-5	0.02
18	77793846	C	A	18	80033846	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	6.89925739660516E-5	0.104
18	77793846	C	G	18	80033846	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	6.89925739660516E-5	0.006
18	77793846	C	T	18	80033846	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	5.15941453541388E-5	0.004
18	77793847	C	A	18	80033847	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	4.11713759611921E-5	0.0
18	77793847	C	G	18	80033847	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	4.11713759611921E-5	0.0
18	77793847	C	T	18	80033847	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	7.48306501328221E-5	0.0
18	77793848	C	A	18	80033848	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	1.78411830452304E-4	0.02
18	77793848	C	G	18	80033848	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	1.78411830452304E-4	0.018
18	77793848	C	T	18	80033848	n	y	upstream	RBFA	.	.	intronic	ENSG00000141759	.	.	1.78411830452304E-4	0.018
18	77793849	A	C	18	80033849	n	y	upstream	RBFA	.	.	splicing	ENSG00000141759	.	.	2.55826342655592E-4	0.008
18	77793849	A	G	18	80033849	n	y	upstream	RBFA	.	.	splicing	ENSG00000141759	.	.	3.08739841361144E-4	0.01
18	77793849	A	T	18	80033849	n	y	upstream	RBFA	.	.	splicing	ENSG00000141759	.	.	1.4076558401562E-4	0.008
18	77793850	C	A	18	80033850	n	y	upstream	RBFA	.	.	splicing	ENSG00000141759	.	.	3.92337711406789E-5	0.002
18	77793850	C	G	18	80033850	n	y	upstream	RBFA	.	.	splicing	ENSG00000141759	.	.	5.24642887656211E-5	0.028
18	77793850	C	T	18	80033850	n	y	upstream	RBFA	.	.	splicing	ENSG00000141759	.	.	3.92337711406789E-5	0.0
18	77793851	C	A	18	80033851	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	6.76375603973572E-5	0.0
18	77793851	C	G	18	80033851	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	3.2541002007331E-5	0.0
18	77793851	C	T	18	80033851	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	6.76375603973572E-5	0.0
18	77793852	T	A	18	80033852	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	8.41208634289763E-5	0.002
18	77793852	T	C	18	80033852	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	8.41208634289763E-5	0.002
18	77793852	T	G	18	80033852	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	8.41208634289763E-5	0.002
18	77793853	G	A	18	80033853	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	3.92337711406789E-5	0.0
18	77793853	G	C	18	80033853	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	3.92337711406789E-5	0.012
18	77793853	G	T	18	80033853	n	y	upstream	RBFA	.	.	UTR5	ENSG00000141759	.	.	3.92337711406789E-5	0.0
18	77794651	C	A	18	80034651	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon1:c.C156A:p.T52T;RBFA:NM_024805:exon1:c.C156A:p.T52T;	exonic	ENSG00000101546;ENSG00000267127	synonymous SNV	ENSG00000101546:ENST00000306735:exon1:c.C156A:p.T52T;ENSG00000267127:ENST00000569722:exon1:c.C156A:p.T52T;ENSG00000101546:ENST00000262197:exon1:c.C156A:p.T52T;ENSG00000267127:ENST00000562771:exon1:c.C156A:p.T52T;	0.101669073174519	0.192
18	77794651	C	G	18	80034651	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon1:c.C156G:p.T52T;RBFA:NM_024805:exon1:c.C156G:p.T52T;	exonic	ENSG00000101546;ENSG00000267127	synonymous SNV	ENSG00000101546:ENST00000306735:exon1:c.C156G:p.T52T;ENSG00000267127:ENST00000569722:exon1:c.C156G:p.T52T;ENSG00000101546:ENST00000262197:exon1:c.C156G:p.T52T;ENSG00000267127:ENST00000562771:exon1:c.C156G:p.T52T;	0.0627432086876533	0.246
18	77794651	C	T	18	80034651	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon1:c.C156T:p.T52T;RBFA:NM_024805:exon1:c.C156T:p.T52T;	exonic	ENSG00000101546;ENSG00000267127	synonymous SNV	ENSG00000101546:ENST00000306735:exon1:c.C156T:p.T52T;ENSG00000267127:ENST00000569722:exon1:c.C156T:p.T52T;ENSG00000101546:ENST00000262197:exon1:c.C156T:p.T52T;ENSG00000267127:ENST00000562771:exon1:c.C156T:p.T52T;	0.996867344612107	0.798
18	77794652	A	C	18	80034652	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon1:c.A157C:p.K53Q;RBFA:NM_024805:exon1:c.A157C:p.K53Q;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon1:c.A157C:p.K53Q;ENSG00000267127:ENST00000569722:exon1:c.A157C:p.K53Q;ENSG00000101546:ENST00000262197:exon1:c.A157C:p.K53Q;ENSG00000267127:ENST00000562771:exon1:c.A157C:p.K53Q;	0.999816977459768	0.978
18	77794652	A	G	18	80034652	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon1:c.A157G:p.K53E;RBFA:NM_024805:exon1:c.A157G:p.K53E;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon1:c.A157G:p.K53E;ENSG00000267127:ENST00000569722:exon1:c.A157G:p.K53E;ENSG00000101546:ENST00000262197:exon1:c.A157G:p.K53E;ENSG00000267127:ENST00000562771:exon1:c.A157G:p.K53E;	0.999818199761459	0.978
18	77794652	A	T	18	80034652	y	y	exonic	RBFA	stopgain SNV	RBFA:NM_001171967:exon1:c.A157T:p.K53X;RBFA:NM_024805:exon1:c.A157T:p.K53X;	exonic	ENSG00000101546;ENSG00000267127	stopgain SNV	ENSG00000101546:ENST00000306735:exon1:c.A157T:p.K53X;ENSG00000267127:ENST00000569722:exon1:c.A157T:p.K53X;ENSG00000101546:ENST00000262197:exon1:c.A157T:p.K53X;ENSG00000267127:ENST00000562771:exon1:c.A157T:p.K53X;	0.999951840297973	0.956
18	77794653	A	C	18	80034653	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon1:c.A158C:p.K53T;RBFA:NM_024805:exon1:c.A158C:p.K53T;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon1:c.A158C:p.K53T;ENSG00000267127:ENST00000569722:exon1:c.A158C:p.K53T;ENSG00000101546:ENST00000262197:exon1:c.A158C:p.K53T;ENSG00000267127:ENST00000562771:exon1:c.A158C:p.K53T;	2.95869655125302E-5	0.118
18	77794653	A	G	18	80034653	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon1:c.A158G:p.K53R;RBFA:NM_024805:exon1:c.A158G:p.K53R;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon1:c.A158G:p.K53R;ENSG00000267127:ENST00000569722:exon1:c.A158G:p.K53R;ENSG00000101546:ENST00000262197:exon1:c.A158G:p.K53R;ENSG00000267127:ENST00000562771:exon1:c.A158G:p.K53R;	3.93220401810161E-4	0.056
18	77794653	A	T	18	80034653	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon1:c.A158T:p.K53I;RBFA:NM_024805:exon1:c.A158T:p.K53I;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon1:c.A158T:p.K53I;ENSG00000267127:ENST00000569722:exon1:c.A158T:p.K53M;ENSG00000101546:ENST00000262197:exon1:c.A158T:p.K53I;ENSG00000267127:ENST00000562771:exon1:c.A158T:p.K53M;	0.00487390059089857	0.362
18	77794654	G	A	18	80034654	y	y	splicing	RBFA(NM_024805:exon1:c.158+1G>A;NM_001171967:exon1:c.158+1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon1:c.158+1G>A;ENST00000262197:exon1:c.158+1G>A);ENSG00000267127(ENST00000569722:exon1:c.158+1G>A;ENST00000562771:exon1:c.158+1G>A)	.	.	0.99996067433903	0.874
18	77794654	G	C	18	80034654	y	y	splicing	RBFA(NM_024805:exon1:c.158+1G>C;NM_001171967:exon1:c.158+1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon1:c.158+1G>C;ENST00000262197:exon1:c.158+1G>C);ENSG00000267127(ENST00000569722:exon1:c.158+1G>C;ENST00000562771:exon1:c.158+1G>C)	.	.	0.99995261935813	0.87
18	77794654	G	T	18	80034654	y	y	splicing	RBFA(NM_024805:exon1:c.158+1G>T;NM_001171967:exon1:c.158+1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon1:c.158+1G>T;ENST00000262197:exon1:c.158+1G>T);ENSG00000267127(ENST00000569722:exon1:c.158+1G>T;ENST00000562771:exon1:c.158+1G>T)	.	.	0.99996067433903	0.876
18	77794655	T	A	18	80034655	y	y	splicing	RBFA(NM_024805:exon1:c.158+2T>A;NM_001171967:exon1:c.158+2T>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon1:c.158+2T>A;ENST00000262197:exon1:c.158+2T>A);ENSG00000267127(ENST00000569722:exon1:c.158+2T>A;ENST00000562771:exon1:c.158+2T>A)	.	.	0.999946934186748	0.878
18	77794655	T	C	18	80034655	y	y	splicing	RBFA(NM_024805:exon1:c.158+2T>C;NM_001171967:exon1:c.158+2T>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon1:c.158+2T>C;ENST00000262197:exon1:c.158+2T>C);ENSG00000267127(ENST00000569722:exon1:c.158+2T>C;ENST00000562771:exon1:c.158+2T>C)	.	.	0.985991646113457	0.734
18	77794655	T	G	18	80034655	y	y	splicing	RBFA(NM_024805:exon1:c.158+2T>G;NM_001171967:exon1:c.158+2T>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon1:c.158+2T>G;ENST00000262197:exon1:c.158+2T>G);ENSG00000267127(ENST00000569722:exon1:c.158+2T>G;ENST00000562771:exon1:c.158+2T>G)	.	.	0.999936065023325	0.868
18	77794656	A	C	18	80034656	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999850937606082	0.906
18	77794656	A	G	18	80034656	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999326167837477	0.812
18	77794656	A	T	18	80034656	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999806641034486	0.932
18	77794657	A	C	18	80034657	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999385679890091	0.784
18	77794657	A	G	18	80034657	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999588388512062	0.798
18	77794657	A	T	18	80034657	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999538726839057	0.774
18	77794658	T	A	18	80034658	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.24920908206206E-5	0.012
18	77794658	T	C	18	80034658	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.93646310685211E-5	0.026
18	77794658	T	G	18	80034658	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.87301715623073E-5	0.002
18	77794659	G	A	18	80034659	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0119290874011481	0.1
18	77794659	G	C	18	80034659	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0528846277057289	0.194
18	77794659	G	T	18	80034659	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00110353032272174	0.068
18	77794660	C	A	18	80034660	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.20410619048806E-4	0.03
18	77794660	C	G	18	80034660	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.55987466231968E-4	0.028
18	77794660	C	T	18	80034660	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	8.027919129597E-5	0.008
18	77794661	G	A	18	80034661	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0012919050435797	0.03
18	77794661	G	C	18	80034661	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	6.72051096167662E-4	0.018
18	77794661	G	T	18	80034661	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.27328580540714E-4	0.004
18	77796656	T	A	18	80036656	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00603440290634218	0.226
18	77796656	T	C	18	80036656	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.08814219595162E-4	0.054
18	77796656	T	G	18	80036656	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00578068146782481	0.218
18	77796657	T	A	18	80036657	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00958731994544041	0.256
18	77796657	T	C	18	80036657	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.63061105545758E-4	0.042
18	77796657	T	G	18	80036657	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00677653336496774	0.22
18	77796658	C	A	18	80036658	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	6.06715883773966E-4	0.074
18	77796658	C	G	18	80036658	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00124698780158392	0.056
18	77796658	C	T	18	80036658	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.84275610127688E-5	0.0
18	77796659	T	A	18	80036659	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0334199145208276	0.21
18	77796659	T	C	18	80036659	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0013173555603314	0.056
18	77796659	T	G	18	80036659	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00597868803037844	0.124
18	77796660	C	A	18	80036660	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	6.2866981189817E-4	0.114
18	77796660	C	G	18	80036660	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.74724330866127E-4	0.046
18	77796660	C	T	18	80036660	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.79114751736786E-5	0.0
18	77796661	C	A	18	80036661	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0306440911341007	0.176
18	77796661	C	G	18	80036661	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0146030453245285	0.184
18	77796661	C	T	18	80036661	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	6.01460707635338E-5	0.0
18	77796662	C	A	18	80036662	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.11631694621162	0.308
18	77796662	C	G	18	80036662	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0482356476486888	0.336
18	77796662	C	T	18	80036662	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	6.80897301470589E-5	0.0
18	77796663	C	A	18	80036663	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.4620816728304E-4	0.11
18	77796663	C	G	18	80036663	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00231945679534612	0.174
18	77796663	C	T	18	80036663	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.49016695098125E-5	0.002
18	77796664	A	C	18	80036664	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.54852964147712E-4	0.0
18	77796664	A	G	18	80036664	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.47452609134375E-4	0.0
18	77796664	A	T	18	80036664	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.31828933972991E-4	0.0
18	77796665	A	C	18	80036665	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.76870441802658E-5	0.028
18	77796665	A	G	18	80036665	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0993472679274539	0.45
18	77796665	A	T	18	80036665	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.72574789847114E-5	0.012
18	77796666	A	C	18	80036666	y	y	splicing	RBFA(NM_024805:exon2:c.159-2A>C;NM_001171967:exon2:c.159-2A>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.159-2A>C;ENST00000262197:exon2:c.159-2A>C)	.	.	0.999989378869813	0.76
18	77796666	A	G	18	80036666	y	y	splicing	RBFA(NM_024805:exon2:c.159-2A>G;NM_001171967:exon2:c.159-2A>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.159-2A>G;ENST00000262197:exon2:c.159-2A>G)	.	.	0.999989378869813	0.76
18	77796666	A	T	18	80036666	y	y	splicing	RBFA(NM_024805:exon2:c.159-2A>T;NM_001171967:exon2:c.159-2A>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.159-2A>T;ENST00000262197:exon2:c.159-2A>T)	.	.	0.999989378869813	0.762
18	77796667	G	A	18	80036667	y	y	splicing	RBFA(NM_024805:exon2:c.159-1G>A;NM_001171967:exon2:c.159-1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.159-1G>A;ENST00000262197:exon2:c.159-1G>A)	.	.	0.999987958061382	0.756
18	77796667	G	C	18	80036667	y	y	splicing	RBFA(NM_024805:exon2:c.159-1G>C;NM_001171967:exon2:c.159-1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.159-1G>C;ENST00000262197:exon2:c.159-1G>C)	.	.	0.999987958061382	0.756
18	77796667	G	T	18	80036667	y	y	splicing	RBFA(NM_024805:exon2:c.159-1G>T;NM_001171967:exon2:c.159-1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.159-1G>T;ENST00000262197:exon2:c.159-1G>T)	.	.	0.999987958061382	0.756
18	77796668	A	C	18	80036668	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.A159C:p.K53N;RBFA:NM_024805:exon2:c.A159C:p.K53N;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.A159C:p.K53N;ENSG00000101546:ENST00000262197:exon2:c.A159C:p.K53N;	0.0030310347040289	0.146
18	77796668	A	G	18	80036668	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon2:c.A159G:p.K53K;RBFA:NM_024805:exon2:c.A159G:p.K53K;	exonic	ENSG00000101546	synonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.A159G:p.K53K;ENSG00000101546:ENST00000262197:exon2:c.A159G:p.K53K;	2.94640877626432E-5	0.02
18	77796668	A	T	18	80036668	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.A159T:p.K53N;RBFA:NM_024805:exon2:c.A159T:p.K53N;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.A159T:p.K53N;ENSG00000101546:ENST00000262197:exon2:c.A159T:p.K53N;	0.00273264554472593	0.214
18	77796669	A	C	18	80036669	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.A160C:p.K54Q;RBFA:NM_024805:exon2:c.A160C:p.K54Q;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.A160C:p.K54Q;ENSG00000101546:ENST00000262197:exon2:c.A160C:p.K54Q;	0.0958522501875845	0.426
18	77796669	A	G	18	80036669	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.A160G:p.K54E;RBFA:NM_024805:exon2:c.A160G:p.K54E;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.A160G:p.K54E;ENSG00000101546:ENST00000262197:exon2:c.A160G:p.K54E;	0.0704330411061628	0.344
18	77796669	A	T	18	80036669	y	y	exonic	RBFA	stopgain SNV	RBFA:NM_001171967:exon2:c.A160T:p.K54X;RBFA:NM_024805:exon2:c.A160T:p.K54X;	exonic	ENSG00000101546	stopgain SNV	ENSG00000101546:ENST00000306735:exon2:c.A160T:p.K54X;ENSG00000101546:ENST00000262197:exon2:c.A160T:p.K54X;	0.620644631290011	0.64
18	77796708	T	A	18	80036708	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.T199A:p.S67T;RBFA:NM_024805:exon2:c.T199A:p.S67T;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.T199A:p.S67T;ENSG00000101546:ENST00000262197:exon2:c.T199A:p.S67T;	5.0792048884687E-5	0.002
18	77796708	T	C	18	80036708	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.T199C:p.S67P;RBFA:NM_024805:exon2:c.T199C:p.S67P;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.T199C:p.S67P;ENSG00000101546:ENST00000262197:exon2:c.T199C:p.S67P;	5.87708273248242E-5	0.0
18	77796708	T	G	18	80036708	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.T199G:p.S67A;RBFA:NM_024805:exon2:c.T199G:p.S67A;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.T199G:p.S67A;ENSG00000101546:ENST00000262197:exon2:c.T199G:p.S67A;	1.2943809502057E-4	0.02
18	77796709	C	A	18	80036709	y	y	exonic	RBFA	stopgain SNV	RBFA:NM_001171967:exon2:c.C200A:p.S67X;RBFA:NM_024805:exon2:c.C200A:p.S67X;	exonic	ENSG00000101546	stopgain SNV	ENSG00000101546:ENST00000306735:exon2:c.C200A:p.S67X;ENSG00000101546:ENST00000262197:exon2:c.C200A:p.S67X;	0.00112542531451069	0.314
18	77796709	C	G	18	80036709	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.C200G:p.S67W;RBFA:NM_024805:exon2:c.C200G:p.S67W;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.C200G:p.S67W;ENSG00000101546:ENST00000262197:exon2:c.C200G:p.S67W;	6.25020277055429E-4	0.032
18	77796709	C	T	18	80036709	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon2:c.C200T:p.S67L;RBFA:NM_024805:exon2:c.C200T:p.S67L;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.C200T:p.S67L;ENSG00000101546:ENST00000262197:exon2:c.C200T:p.S67L;	3.17290841798722E-4	0.236
18	77796710	G	A	18	80036710	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon2:c.G201A:p.S67S;RBFA:NM_024805:exon2:c.G201A:p.S67S;	exonic	ENSG00000101546	synonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.G201A:p.S67S;ENSG00000101546:ENST00000262197:exon2:c.G201A:p.S67S;	0.969488609451715	0.812
18	77796710	G	C	18	80036710	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon2:c.G201C:p.S67S;RBFA:NM_024805:exon2:c.G201C:p.S67S;	exonic	ENSG00000101546	synonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.G201C:p.S67S;ENSG00000101546:ENST00000262197:exon2:c.G201C:p.S67S;	0.995526657004503	0.634
18	77796710	G	T	18	80036710	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon2:c.G201T:p.S67S;RBFA:NM_024805:exon2:c.G201T:p.S67S;	exonic	ENSG00000101546	synonymous SNV	ENSG00000101546:ENST00000306735:exon2:c.G201T:p.S67S;ENSG00000101546:ENST00000262197:exon2:c.G201T:p.S67S;	0.998924503637991	0.86
18	77796711	G	A	18	80036711	y	y	splicing	RBFA(NM_024805:exon2:c.201+1G>A;NM_001171967:exon2:c.201+1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.201+1G>A;ENST00000262197:exon2:c.201+1G>A)	.	.	0.999958003653399	0.804
18	77796711	G	C	18	80036711	y	y	splicing	RBFA(NM_024805:exon2:c.201+1G>C;NM_001171967:exon2:c.201+1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.201+1G>C;ENST00000262197:exon2:c.201+1G>C)	.	.	0.999977614472875	0.782
18	77796711	G	T	18	80036711	y	y	splicing	RBFA(NM_024805:exon2:c.201+1G>T;NM_001171967:exon2:c.201+1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.201+1G>T;ENST00000262197:exon2:c.201+1G>T)	.	.	0.999977614472875	0.796
18	77796712	T	A	18	80036712	y	y	splicing	RBFA(NM_024805:exon2:c.201+2T>A;NM_001171967:exon2:c.201+2T>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.201+2T>A;ENST00000262197:exon2:c.201+2T>A)	.	.	0.99992760270743	0.758
18	77796712	T	C	18	80036712	y	y	splicing	RBFA(NM_024805:exon2:c.201+2T>C;NM_001171967:exon2:c.201+2T>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.201+2T>C;ENST00000262197:exon2:c.201+2T>C)	.	.	0.99951016456444	0.726
18	77796712	T	G	18	80036712	y	y	splicing	RBFA(NM_024805:exon2:c.201+2T>G;NM_001171967:exon2:c.201+2T>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon2:c.201+2T>G;ENST00000262197:exon2:c.201+2T>G)	.	.	0.999940351765486	0.76
18	77796713	G	A	18	80036713	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.18844764073394E-5	0.0
18	77796713	G	C	18	80036713	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0649374007696576	0.266
18	77796713	G	T	18	80036713	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0884352467069923	0.298
18	77796714	A	C	18	80036714	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.491678398752444	0.54
18	77796714	A	G	18	80036714	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.942807892199867	0.634
18	77796714	A	T	18	80036714	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.936220372730748	0.674
18	77796715	G	A	18	80036715	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.998625990982763	0.812
18	77796715	G	C	18	80036715	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999810011019345	0.942
18	77796715	G	T	18	80036715	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999818254163846	0.866
18	77796716	T	A	18	80036716	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0445732250324018	0.222
18	77796716	T	C	18	80036716	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0216229410216695	0.188
18	77796716	T	G	18	80036716	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.011180937442889	0.172
18	77796717	A	C	18	80036717	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.62500938860321E-5	0.002
18	77796717	A	G	18	80036717	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.62500938860321E-5	0.004
18	77796717	A	T	18	80036717	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.69804235104544E-5	0.004
18	77796718	T	A	18	80036718	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.23792963964061E-5	0.0
18	77796718	T	C	18	80036718	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.35132462768971E-5	0.0
18	77796718	T	G	18	80036718	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.74364292996766E-5	0.0
18	77797318	T	A	18	80037318	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0300741261315638	.
18	77797318	T	C	18	80037318	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.61843108684165E-4	.
18	77797318	T	G	18	80037318	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0283428123942472	.
18	77797319	T	A	18	80037319	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.839362452832015	.
18	77797319	T	C	18	80037319	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.157213292863789	.
18	77797319	T	G	18	80037319	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.675006412531237	.
18	77797320	C	A	18	80037320	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.06219135687173E-4	.
18	77797320	C	G	18	80037320	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.37010154451313E-4	.
18	77797320	C	T	18	80037320	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.65969955805268E-5	.
18	77797321	C	A	18	80037321	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.8658166075192E-4	.
18	77797321	C	G	18	80037321	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.24333909977682E-4	.
18	77797321	C	T	18	80037321	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.38939324133129E-5	.
18	77797322	T	A	18	80037322	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.998021431680806	.
18	77797322	T	C	18	80037322	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.44186477657548E-5	.
18	77797322	T	G	18	80037322	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00705168067639396	.
18	77797323	G	A	18	80037323	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.39440400606117E-5	.
18	77797323	G	C	18	80037323	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.67319486664165E-5	.
18	77797323	G	T	18	80037323	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.53553621006506E-5	.
18	77797324	A	C	18	80037324	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.0099888733213E-5	.
18	77797324	A	G	18	80037324	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.12322404303119E-5	.
18	77797324	A	T	18	80037324	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.43394020161311E-5	.
18	77797325	T	A	18	80037325	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.99912983564398	.
18	77797325	T	C	18	80037325	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00182568636632638	.
18	77797325	T	G	18	80037325	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.997564014124193	.
18	77797326	G	A	18	80037326	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.00021043436247E-4	.
18	77797326	G	C	18	80037326	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.40223782493002E-4	.
18	77797326	G	T	18	80037326	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.48921482130922E-4	.
18	77797327	G	A	18	80037327	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.42785872378984E-5	.
18	77797327	G	C	18	80037327	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.59906914584018E-5	.
18	77797327	G	T	18	80037327	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.75293938878443E-5	.
18	77797328	A	C	18	80037328	y	y	splicing	RBFA(NM_024805:exon3:c.202-2A>C;NM_001171967:exon3:c.202-2A>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.202-2A>C;ENST00000262197:exon3:c.202-2A>C)	.	.	0.999891677837975	.
18	77797328	A	G	18	80037328	y	y	splicing	RBFA(NM_024805:exon3:c.202-2A>G;NM_001171967:exon3:c.202-2A>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.202-2A>G;ENST00000262197:exon3:c.202-2A>G)	.	.	0.999891677837975	.
18	77797328	A	T	18	80037328	y	y	splicing	RBFA(NM_024805:exon3:c.202-2A>T;NM_001171967:exon3:c.202-2A>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.202-2A>T;ENST00000262197:exon3:c.202-2A>T)	.	.	0.999891677837975	.
18	77797329	G	A	18	80037329	y	y	splicing	RBFA(NM_024805:exon3:c.202-1G>A;NM_001171967:exon3:c.202-1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.202-1G>A;ENST00000262197:exon3:c.202-1G>A)	.	.	0.99988213682134	.
18	77797329	G	C	18	80037329	y	y	splicing	RBFA(NM_024805:exon3:c.202-1G>C;NM_001171967:exon3:c.202-1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.202-1G>C;ENST00000262197:exon3:c.202-1G>C)	.	.	0.999870298014856	.
18	77797329	G	T	18	80037329	y	y	splicing	RBFA(NM_024805:exon3:c.202-1G>T;NM_001171967:exon3:c.202-1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.202-1G>T;ENST00000262197:exon3:c.202-1G>T)	.	.	0.99988213682134	.
18	77797330	A	C	18	80037330	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.A202C:p.T68P;RBFA:NM_024805:exon3:c.A202C:p.T68P;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.A202C:p.T68P;ENSG00000101546:ENST00000262197:exon3:c.A202C:p.T68P;	0.00134428275713271	.
18	77797330	A	G	18	80037330	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.A202G:p.T68A;RBFA:NM_024805:exon3:c.A202G:p.T68A;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.A202G:p.T68A;ENSG00000101546:ENST00000262197:exon3:c.A202G:p.T68A;	5.6929949015927E-5	.
18	77797330	A	T	18	80037330	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.A202T:p.T68S;RBFA:NM_024805:exon3:c.A202T:p.T68S;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.A202T:p.T68S;ENSG00000101546:ENST00000262197:exon3:c.A202T:p.T68S;	0.00203932899286161	.
18	77797331	C	A	18	80037331	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.C203A:p.T68N;RBFA:NM_024805:exon3:c.C203A:p.T68N;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.C203A:p.T68N;ENSG00000101546:ENST00000262197:exon3:c.C203A:p.T68N;	9.93176979483117E-4	.
18	77797331	C	G	18	80037331	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.C203G:p.T68S;RBFA:NM_024805:exon3:c.C203G:p.T68S;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.C203G:p.T68S;ENSG00000101546:ENST00000262197:exon3:c.C203G:p.T68S;	3.91484422505735E-4	.
18	77797331	C	T	18	80037331	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.C203T:p.T68I;RBFA:NM_024805:exon3:c.C203T:p.T68I;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.C203T:p.T68I;ENSG00000101546:ENST00000262197:exon3:c.C203T:p.T68I;	7.39631169366772E-5	.
18	77797504	A	C	18	80037504	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.A376C:p.K126Q;RBFA:NM_024805:exon3:c.A376C:p.K126Q;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.A376C:p.K126Q;ENSG00000267127:ENST00000591514:exon1:c.A118C:p.K40Q;ENSG00000101546:ENST00000262197:exon3:c.A376C:p.K126Q;	0.0342272942750024	0.298
18	77797504	A	G	18	80037504	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.A376G:p.K126E;RBFA:NM_024805:exon3:c.A376G:p.K126E;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.A376G:p.K126E;ENSG00000267127:ENST00000591514:exon1:c.A118G:p.K40E;ENSG00000101546:ENST00000262197:exon3:c.A376G:p.K126E;	0.102918271361813	0.342
18	77797504	A	T	18	80037504	y	y	exonic	RBFA	stopgain SNV	RBFA:NM_001171967:exon3:c.A376T:p.K126X;RBFA:NM_024805:exon3:c.A376T:p.K126X;	exonic	ENSG00000101546;ENSG00000267127	stopgain SNV	ENSG00000101546:ENST00000306735:exon3:c.A376T:p.K126X;ENSG00000267127:ENST00000591514:exon1:c.A118T:p.K40X;ENSG00000101546:ENST00000262197:exon3:c.A376T:p.K126X;	0.942067322422991	0.69
18	77797505	A	C	18	80037505	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.A377C:p.K126T;RBFA:NM_024805:exon3:c.A377C:p.K126T;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.A377C:p.K126T;ENSG00000267127:ENST00000591514:exon1:c.A119C:p.K40T;ENSG00000101546:ENST00000262197:exon3:c.A377C:p.K126T;	0.995800760121598	0.938
18	77797505	A	G	18	80037505	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.A377G:p.K126R;RBFA:NM_024805:exon3:c.A377G:p.K126R;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.A377G:p.K126R;ENSG00000267127:ENST00000591514:exon1:c.A119G:p.K40R;ENSG00000101546:ENST00000262197:exon3:c.A377G:p.K126R;	0.997565306852238	0.976
18	77797505	A	T	18	80037505	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.A377T:p.K126M;RBFA:NM_024805:exon3:c.A377T:p.K126M;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.A377T:p.K126M;ENSG00000267127:ENST00000591514:exon1:c.A119T:p.K40M;ENSG00000101546:ENST00000262197:exon3:c.A377T:p.K126M;	0.998407907798629	0.992
18	77797506	G	A	18	80037506	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon3:c.G378A:p.K126K;RBFA:NM_024805:exon3:c.G378A:p.K126K;	exonic	ENSG00000101546;ENSG00000267127	synonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.G378A:p.K126K;ENSG00000267127:ENST00000591514:exon1:c.G120A:p.K40K;ENSG00000101546:ENST00000262197:exon3:c.G378A:p.K126K;	0.998047321653349	0.946
18	77797506	G	C	18	80037506	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.G378C:p.K126N;RBFA:NM_024805:exon3:c.G378C:p.K126N;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.G378C:p.K126N;ENSG00000267127:ENST00000591514:exon1:c.G120C:p.K40N;ENSG00000101546:ENST00000262197:exon3:c.G378C:p.K126N;	0.999962023321039	0.996
18	77797506	G	T	18	80037506	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon3:c.G378T:p.K126N;RBFA:NM_024805:exon3:c.G378T:p.K126N;	exonic	ENSG00000101546;ENSG00000267127	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon3:c.G378T:p.K126N;ENSG00000267127:ENST00000591514:exon1:c.G120T:p.K40N;ENSG00000101546:ENST00000262197:exon3:c.G378T:p.K126N;	0.999837877956233	0.998
18	77797507	G	A	18	80037507	y	y	splicing	RBFA(NM_024805:exon3:c.378+1G>A;NM_001171967:exon3:c.378+1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.378+1G>A;ENST00000262197:exon3:c.378+1G>A);ENSG00000267127(ENST00000591514:exon1:c.120+1G>A)	.	.	0.999977614472875	0.73
18	77797507	G	C	18	80037507	y	y	splicing	RBFA(NM_024805:exon3:c.378+1G>C;NM_001171967:exon3:c.378+1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.378+1G>C;ENST00000262197:exon3:c.378+1G>C);ENSG00000267127(ENST00000591514:exon1:c.120+1G>C)	.	.	0.999982312740861	0.744
18	77797507	G	T	18	80037507	y	y	splicing	RBFA(NM_024805:exon3:c.378+1G>T;NM_001171967:exon3:c.378+1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.378+1G>T;ENST00000262197:exon3:c.378+1G>T);ENSG00000267127(ENST00000591514:exon1:c.120+1G>T)	.	.	0.999982312740861	0.732
18	77797508	T	A	18	80037508	y	y	splicing	RBFA(NM_024805:exon3:c.378+2T>A;NM_001171967:exon3:c.378+2T>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.378+2T>A;ENST00000262197:exon3:c.378+2T>A);ENSG00000267127(ENST00000591514:exon1:c.120+2T>A)	.	.	0.999989378869813	0.766
18	77797508	T	C	18	80037508	y	y	splicing	RBFA(NM_024805:exon3:c.378+2T>C;NM_001171967:exon3:c.378+2T>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.378+2T>C;ENST00000262197:exon3:c.378+2T>C);ENSG00000267127(ENST00000591514:exon1:c.120+2T>C)	.	.	0.956386430900371	0.46
18	77797508	T	G	18	80037508	y	y	splicing	RBFA(NM_024805:exon3:c.378+2T>G;NM_001171967:exon3:c.378+2T>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon3:c.378+2T>G;ENST00000262197:exon3:c.378+2T>G);ENSG00000267127(ENST00000591514:exon1:c.120+2T>G)	.	.	0.999989378869813	0.764
18	77797509	A	C	18	80037509	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.948336173239816	0.69
18	77797509	A	G	18	80037509	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0390451141989177	0.182
18	77797509	A	T	18	80037509	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.968317682104283	0.672
18	77797510	G	A	18	80037510	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	8.10459693356508E-5	0.024
18	77797510	G	C	18	80037510	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.53282884746E-5	0.002
18	77797510	G	T	18	80037510	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.53282884746E-5	0.0
18	77797511	G	A	18	80037511	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.185777830548388	0.25
18	77797511	G	C	18	80037511	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.269901145896431	0.238
18	77797511	G	T	18	80037511	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.414818769191601	0.316
18	77797512	C	A	18	80037512	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.18435087413735E-5	0.006
18	77797512	C	G	18	80037512	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.21424787503366E-5	0.024
18	77797512	C	T	18	80037512	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.80524452692007E-5	0.034
18	77797513	T	A	18	80037513	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.77547636659262E-5	0.0
18	77797513	T	C	18	80037513	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.14943646972724E-5	0.0
18	77797513	T	G	18	80037513	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.46004206284423E-5	0.0
18	77797514	G	A	18	80037514	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.36197223307862E-5	0.0
18	77797514	G	C	18	80037514	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.38067689797264E-5	0.0
18	77797514	G	T	18	80037514	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.38067689797264E-5	0.0
18	77798493	G	A	18	80038493	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.78847614516935E-4	.
18	77798493	G	C	18	80038493	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.04127375035776E-5	.
18	77798493	G	T	18	80038493	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.70956461136886E-5	.
18	77798494	C	A	18	80038494	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.546701444116345	.
18	77798494	C	G	18	80038494	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.08548123103057E-4	.
18	77798494	C	T	18	80038494	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.56227402875007E-5	.
18	77798495	G	A	18	80038495	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.619371225634116	.
18	77798495	G	C	18	80038495	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.79839422998086E-5	.
18	77798495	G	T	18	80038495	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.88107456516461E-5	.
18	77798496	G	A	18	80038496	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.986483588172756	.
18	77798496	G	C	18	80038496	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.94535314906234E-4	.
18	77798496	G	T	18	80038496	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.93970086458751E-4	.
18	77798497	G	A	18	80038497	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.983024632464453	.
18	77798497	G	C	18	80038497	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.07309548709352E-4	.
18	77798497	G	T	18	80038497	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.46980068078581E-4	.
18	77798498	G	A	18	80038498	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.03353251553027E-4	.
18	77798498	G	C	18	80038498	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.55955572115086E-5	.
18	77798498	G	T	18	80038498	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.91683211707006E-5	.
18	77798499	T	A	18	80038499	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.202248893583456	.
18	77798499	T	C	18	80038499	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.37350826890618E-5	.
18	77798499	T	G	18	80038499	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.202248893583456	.
18	77798500	C	A	18	80038500	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.57244582221653E-5	.
18	77798500	C	G	18	80038500	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	8.31126187061395E-5	.
18	77798500	C	T	18	80038500	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.94980118273093E-5	.
18	77798501	T	A	18	80038501	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.4364614090189E-5	.
18	77798501	T	C	18	80038501	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.89992202685728E-5	.
18	77798501	T	G	18	80038501	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.47152668961745E-4	.
18	77798502	C	A	18	80038502	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.998631824419188	.
18	77798502	C	G	18	80038502	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.998881771528719	.
18	77798502	C	T	18	80038502	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00418815856409061	.
18	77798503	A	C	18	80038503	y	y	splicing	RBFA(NM_024805:exon4:c.379-2A>C;NM_001171967:exon4:c.379-2A>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.379-2A>C;ENST00000262197:exon4:c.379-2A>C)	.	.	0.999907579480858	.
18	77798503	A	G	18	80038503	y	y	splicing	RBFA(NM_024805:exon4:c.379-2A>G;NM_001171967:exon4:c.379-2A>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.379-2A>G;ENST00000262197:exon4:c.379-2A>G)	.	.	0.999907579480858	.
18	77798503	A	T	18	80038503	y	y	splicing	RBFA(NM_024805:exon4:c.379-2A>T;NM_001171967:exon4:c.379-2A>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.379-2A>T;ENST00000262197:exon4:c.379-2A>T)	.	.	0.999907579480858	.
18	77798504	G	A	18	80038504	y	y	splicing	RBFA(NM_024805:exon4:c.379-1G>A;NM_001171967:exon4:c.379-1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.379-1G>A;ENST00000262197:exon4:c.379-1G>A)	.	.	0.999861710210359	.
18	77798504	G	C	18	80038504	y	y	splicing	RBFA(NM_024805:exon4:c.379-1G>C;NM_001171967:exon4:c.379-1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.379-1G>C;ENST00000262197:exon4:c.379-1G>C)	.	.	0.999861710210359	.
18	77798504	G	T	18	80038504	y	y	splicing	RBFA(NM_024805:exon4:c.379-1G>T;NM_001171967:exon4:c.379-1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.379-1G>T;ENST00000262197:exon4:c.379-1G>T)	.	.	0.999861710210359	.
18	77798505	G	A	18	80038505	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G379A:p.V127I;RBFA:NM_024805:exon4:c.G379A:p.V127I;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G379A:p.V127I;ENSG00000101546:ENST00000262197:exon4:c.G379A:p.V127I;	0.994405094982879	.
18	77798505	G	C	18	80038505	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G379C:p.V127L;RBFA:NM_024805:exon4:c.G379C:p.V127L;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G379C:p.V127L;ENSG00000101546:ENST00000262197:exon4:c.G379C:p.V127L;	0.999252147407046	.
18	77798505	G	T	18	80038505	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G379T:p.V127F;RBFA:NM_024805:exon4:c.G379T:p.V127F;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G379T:p.V127F;ENSG00000101546:ENST00000262197:exon4:c.G379T:p.V127F;	0.998942773322317	.
18	77798506	T	A	18	80038506	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.T380A:p.V127D;RBFA:NM_024805:exon4:c.T380A:p.V127D;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.T380A:p.V127D;ENSG00000101546:ENST00000262197:exon4:c.T380A:p.V127D;	0.17140295621306	.
18	77798506	T	C	18	80038506	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.T380C:p.V127A;RBFA:NM_024805:exon4:c.T380C:p.V127A;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.T380C:p.V127A;ENSG00000101546:ENST00000262197:exon4:c.T380C:p.V127A;	0.319484927152158	.
18	77798506	T	G	18	80038506	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.T380G:p.V127G;RBFA:NM_024805:exon4:c.T380G:p.V127G;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.T380G:p.V127G;ENSG00000101546:ENST00000262197:exon4:c.T380G:p.V127G;	0.152929915110262	.
18	77798615	G	A	18	80038615	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G489A:p.M163I;RBFA:NM_024805:exon4:c.G489A:p.M163I;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G489A:p.M163I;ENSG00000101546:ENST00000262197:exon4:c.G489A:p.M163I;	1.61575748182579E-4	0.02
18	77798615	G	C	18	80038615	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G489C:p.M163I;RBFA:NM_024805:exon4:c.G489C:p.M163I;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G489C:p.M163I;ENSG00000101546:ENST00000262197:exon4:c.G489C:p.M163I;	1.94577226866018E-4	0.026
18	77798615	G	T	18	80038615	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G489T:p.M163I;RBFA:NM_024805:exon4:c.G489T:p.M163I;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G489T:p.M163I;ENSG00000101546:ENST00000262197:exon4:c.G489T:p.M163I;	0.00342016368167358	0.154
18	77798616	A	C	18	80038616	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.A490C:p.S164R;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000262197:exon4:c.A490C:p.S164R;	0.987244377185261	0.91
18	77798616	A	G	18	80038616	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.A490G:p.S164G;RBFA:NM_024805:exon4:c.A490G:p.R164G;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.A490G:p.R164G;ENSG00000101546:ENST00000262197:exon4:c.A490G:p.S164G;	0.999883399809776	0.956
18	77798616	A	T	18	80038616	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.A490T:p.S164C;RBFA:NM_024805:exon4:c.A490T:p.R164W;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.A490T:p.R164W;ENSG00000101546:ENST00000262197:exon4:c.A490T:p.S164C;	0.999846848205585	0.964
18	77798617	G	A	18	80038617	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G491A:p.S164N;RBFA:NM_024805:exon4:c.G491A:p.R164K;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G491A:p.R164K;ENSG00000101546:ENST00000262197:exon4:c.G491A:p.S164N;	0.999997314198704	1.0
18	77798617	G	C	18	80038617	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G491C:p.S164T;RBFA:NM_024805:exon4:c.G491C:p.R164T;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G491C:p.R164T;ENSG00000101546:ENST00000262197:exon4:c.G491C:p.S164T;	0.999993052711622	0.998
18	77798617	G	T	18	80038617	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.G491T:p.S164I;RBFA:NM_024805:exon4:c.G491T:p.R164M;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon4:c.G491T:p.R164M;ENSG00000101546:ENST00000262197:exon4:c.G491T:p.S164I;	0.999945175434988	0.998
18	77798618	G	A	18	80038618	y	y	splicing	RBFA(NM_024805:exon4:c.491+1G>A;NM_001171967:exon4:c.491+1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.491+1G>A;ENST00000262197:exon4:c.491+1G>A)	.	.	0.99995261935813	0.868
18	77798618	G	C	18	80038618	y	y	splicing	RBFA(NM_024805:exon4:c.491+1G>C;NM_001171967:exon4:c.491+1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.491+1G>C;ENST00000262197:exon4:c.491+1G>C)	.	.	0.99995261935813	0.826
18	77798618	G	T	18	80038618	y	y	splicing	RBFA(NM_024805:exon4:c.491+1G>T;NM_001171967:exon4:c.491+1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.491+1G>T;ENST00000262197:exon4:c.491+1G>T)	.	.	0.99995261935813	0.832
18	77798619	T	A	18	80038619	y	y	splicing	RBFA(NM_024805:exon4:c.491+2T>A;NM_001171967:exon4:c.491+2T>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.491+2T>A;ENST00000262197:exon4:c.491+2T>A)	.	.	0.99995820954749	0.854
18	77798619	T	C	18	80038619	y	y	splicing	RBFA(NM_024805:exon4:c.491+2T>C;NM_001171967:exon4:c.491+2T>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.491+2T>C;ENST00000262197:exon4:c.491+2T>C)	.	.	0.998959831849618	0.756
18	77798619	T	G	18	80038619	y	y	splicing	RBFA(NM_024805:exon4:c.491+2T>G;NM_001171967:exon4:c.491+2T>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon4:c.491+2T>G;ENST00000262197:exon4:c.491+2T>G)	.	.	0.99995820954749	0.816
18	77798620	G	A	18	80038620	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.43930485520131E-4	0.12
18	77798620	G	C	18	80038620	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.993630117749399	0.722
18	77798620	G	T	18	80038620	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.994661392853187	0.722
18	77798621	A	C	18	80038621	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.978245212920026	0.692
18	77798621	A	G	18	80038621	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.998871980229231	0.85
18	77798621	A	T	18	80038621	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.998001614759678	0.836
18	77798622	T	A	18	80038622	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.73312756107736E-5	0.03
18	77798622	T	C	18	80038622	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.14782921077593E-4	0.098
18	77798622	T	G	18	80038622	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.48965488304082E-5	0.004
18	77798623	G	A	18	80038623	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.59282638058451E-4	0.024
18	77798623	G	C	18	80038623	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.07932675798878E-4	0.062
18	77798623	G	T	18	80038623	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.94071583457583E-5	0.024
18	77798624	A	C	18	80038624	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.22370765394219E-4	0.022
18	77798624	A	G	18	80038624	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.47128777812263E-5	0.018
18	77798624	A	T	18	80038624	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.63389044322439E-4	0.086
18	77798625	C	A	18	80038625	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.86895886869609E-4	0.018
18	77798625	C	G	18	80038625	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.78825895983336E-4	0.132
18	77798625	C	T	18	80038625	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.99599978595172E-4	0.018
18	77802123	T	A	18	80042123	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0138682403833123	0.226
18	77802123	T	C	18	80042123	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.37493268194856E-4	0.004
18	77802123	T	G	18	80042123	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0187740240243648	0.228
18	77802124	C	A	18	80042124	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00111125773297947	0.078
18	77802124	C	G	18	80042124	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.12665798529481E-4	0.022
18	77802124	C	T	18	80042124	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.51861961064324E-5	0.008
18	77802125	T	A	18	80042125	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999941864218948	0.962
18	77802125	T	C	18	80042125	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	8.46516901144608E-4	0.038
18	77802125	T	G	18	80042125	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.244798486438868	0.462
18	77802126	G	A	18	80042126	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.83272407697515E-5	0.03
18	77802126	G	C	18	80042126	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.06343376707622E-5	0.0
18	77802126	G	T	18	80042126	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.27784885061172E-5	0.0
18	77802127	T	A	18	80042127	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.117594881294717	0.174
18	77802127	T	C	18	80042127	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.18351057223505E-4	0.022
18	77802127	T	G	18	80042127	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00187217314786871	0.114
18	77802128	C	A	18	80042128	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00410626500612293	0.058
18	77802128	C	G	18	80042128	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.90759874292399E-4	0.036
18	77802128	C	T	18	80042128	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.80492042500047E-5	0.008
18	77802129	T	A	18	80042129	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0357622189964683	0.216
18	77802129	T	C	18	80042129	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.40916029172342E-5	0.0
18	77802129	T	G	18	80042129	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.136363781378281	0.26
18	77802130	C	A	18	80042130	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.65712904936546E-4	0.028
18	77802130	C	G	18	80042130	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.65712904936546E-4	0.032
18	77802130	C	T	18	80042130	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.65096955710674E-5	0.0
18	77802131	C	A	18	80042131	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.84403353066938E-5	0.0
18	77802131	C	G	18	80042131	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.84403353066938E-5	0.0
18	77802131	C	T	18	80042131	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.06877436923916E-5	0.0
18	77802132	T	A	18	80042132	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00151244373762882	0.138
18	77802132	T	C	18	80042132	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.2550882384754E-4	0.0
18	77802132	T	G	18	80042132	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.534223971999854	0.616
18	77802133	A	C	18	80042133	y	y	splicing	RBFA(NM_024805:exon5:c.492-2A>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.492-2A>C)	.	.	0.999969255906173	0.84
18	77802133	A	G	18	80042133	y	y	splicing	RBFA(NM_024805:exon5:c.492-2A>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.492-2A>G)	.	.	0.999969712949741	0.838
18	77802133	A	T	18	80042133	y	y	splicing	RBFA(NM_024805:exon5:c.492-2A>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.492-2A>T)	.	.	0.999969255906173	0.862
18	77802134	G	A	18	80042134	y	y	splicing	RBFA(NM_024805:exon5:c.492-1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.492-1G>A)	.	.	0.999968430223941	0.828
18	77802134	G	C	18	80042134	y	y	splicing	RBFA(NM_024805:exon5:c.492-1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.492-1G>C)	.	.	0.999965143305126	0.866
18	77802134	G	T	18	80042134	y	y	splicing	RBFA(NM_024805:exon5:c.492-1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.492-1G>T)	.	.	0.999968430223941	0.876
18	77802135	G	A	18	80042135	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_024805:exon5:c.G492A:p.R164R;	exonic	ENSG00000101546	synonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.G492A:p.R164R;	0.0378727581464106	0.246
18	77802135	G	C	18	80042135	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.G492C:p.R164S;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.G492C:p.R164S;	0.968180943688895	0.822
18	77802135	G	T	18	80042135	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.G492T:p.R164S;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.G492T:p.R164S;	0.987462959631263	0.894
18	77802136	C	A	18	80042136	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.C493A:p.H165N;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.C493A:p.H165N;	0.981778069670352	0.704
18	77802136	C	G	18	80042136	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.C493G:p.H165D;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.C493G:p.H165D;	0.961262869556306	0.648
18	77802136	C	T	18	80042136	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.C493T:p.H165Y;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.C493T:p.H165Y;	0.00655075384607932	0.024
18	77802217	G	A	18	80042217	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.G574A:p.E192K;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.G574A:p.E192K;	0.00139880595064705	0.084
18	77802217	G	C	18	80042217	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.G574C:p.E192Q;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.G574C:p.E192Q;	3.54984356072885E-4	0.032
18	77802217	G	T	18	80042217	y	y	exonic	RBFA	stopgain SNV	RBFA:NM_024805:exon5:c.G574T:p.E192X;	exonic	ENSG00000101546	stopgain SNV	ENSG00000101546:ENST00000306735:exon5:c.G574T:p.E192X;	0.0599802693669052	0.226
18	77802218	A	C	18	80042218	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.A575C:p.E192A;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.A575C:p.E192A;	0.985642796487773	0.942
18	77802218	A	G	18	80042218	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.A575G:p.E192G;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.A575G:p.E192G;	0.997180327932373	0.978
18	77802218	A	T	18	80042218	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.A575T:p.E192V;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.A575T:p.E192V;	0.998802800394872	0.962
18	77802219	G	A	18	80042219	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_024805:exon5:c.G576A:p.E192E;	exonic	ENSG00000101546	synonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.G576A:p.E192E;	0.982709750501131	0.788
18	77802219	G	C	18	80042219	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.G576C:p.E192D;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.G576C:p.E192D;	0.986714793932494	0.78
18	77802219	G	T	18	80042219	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon5:c.G576T:p.E192D;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon5:c.G576T:p.E192D;	0.994965758898551	0.932
18	77802220	G	A	18	80042220	y	y	splicing	RBFA(NM_024805:exon5:c.576+1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.576+1G>A)	.	.	0.999958003653399	0.806
18	77802220	G	C	18	80042220	y	y	splicing	RBFA(NM_024805:exon5:c.576+1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.576+1G>C)	.	.	0.999958003653399	0.802
18	77802220	G	T	18	80042220	y	y	splicing	RBFA(NM_024805:exon5:c.576+1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.576+1G>T)	.	.	0.999958003653399	0.81
18	77802221	T	A	18	80042221	y	y	splicing	RBFA(NM_024805:exon5:c.576+2T>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.576+2T>A)	.	.	0.999962958601995	0.828
18	77802221	T	C	18	80042221	y	y	splicing	RBFA(NM_024805:exon5:c.576+2T>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.576+2T>C)	.	.	0.908743880845129	0.544
18	77802221	T	G	18	80042221	y	y	splicing	RBFA(NM_024805:exon5:c.576+2T>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon5:c.576+2T>G)	.	.	0.999962958601995	0.796
18	77802222	A	C	18	80042222	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.925563938483416	0.582
18	77802222	A	G	18	80042222	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0044377986100961	0.194
18	77802222	A	T	18	80042222	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.957651131535804	0.576
18	77802223	A	C	18	80042223	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.515764564546922	0.47
18	77802223	A	G	18	80042223	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.767411617562739	0.53
18	77802223	A	T	18	80042223	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.572421714592089	0.452
18	77802224	G	A	18	80042224	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.73345353156911	0.46
18	77802224	G	C	18	80042224	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.587962671568791	0.522
18	77802224	G	T	18	80042224	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.819805768297293	0.458
18	77802225	G	A	18	80042225	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.43956930799866E-4	0.0
18	77802225	G	C	18	80042225	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.11405244867215E-4	0.0
18	77802225	G	T	18	80042225	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.90998303420855E-5	0.0
18	77802226	T	A	18	80042226	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.44454674516076E-5	0.0
18	77802226	T	C	18	80042226	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.44454674516076E-5	0.0
18	77802226	T	G	18	80042226	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.44454674516076E-5	0.0
18	77802227	T	A	18	80042227	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.44276443339962E-5	0.0
18	77802227	T	C	18	80042227	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.74539423824098E-5	0.0
18	77802227	T	G	18	80042227	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.9744004704441E-5	0.0
18	77804200	G	A	18	80044200	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.97089043260856E-5	0.008
18	77804200	G	C	18	80044200	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.05865609216242E-4	0.0
18	77804200	G	T	18	80044200	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.7439659638959E-5	0.002
18	77804201	T	A	18	80044201	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0442450329267519	0.41
18	77804201	T	C	18	80044201	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.39511137281725E-4	0.114
18	77804201	T	G	18	80044201	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0201232584036421	0.392
18	77804202	T	A	18	80044202	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0385995666898733	0.324
18	77804202	T	C	18	80044202	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.1179065944225E-4	0.142
18	77804202	T	G	18	80044202	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0180958427502535	0.276
18	77804203	C	A	18	80044203	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.90133320959648E-4	0.024
18	77804203	C	G	18	80044203	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.02511440618535E-4	0.052
18	77804203	C	T	18	80044203	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.70708461303073E-5	0.0
18	77804204	C	A	18	80044204	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.91929705902531E-4	0.036
18	77804204	C	G	18	80044204	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.66943271176582E-4	0.03
18	77804204	C	T	18	80044204	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.77253676714457E-5	0.002
18	77804205	T	A	18	80044205	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00397377731381345	0.022
18	77804205	T	C	18	80044205	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	8.29646724121364E-5	0.0
18	77804205	T	G	18	80044205	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00139887766733778	0.032
18	77804206	C	A	18	80044206	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00118953770199369	0.098
18	77804206	C	G	18	80044206	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00215470566985653	0.116
18	77804206	C	T	18	80044206	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.14522300743031E-5	0.0
18	77804207	T	A	18	80044207	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999458474293319	0.93
18	77804207	T	C	18	80044207	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.36451268989798E-5	0.032
18	77804207	T	G	18	80044207	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.0806128058738076	0.478
18	77804208	G	A	18	80044208	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.70855267782631E-5	0.002
18	77804208	G	C	18	80044208	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.11599788285826E-6	0.002
18	77804208	G	T	18	80044208	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.23048590914808E-5	0.004
18	77804209	T	A	18	80044209	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00369709405671814	0.228
18	77804209	T	C	18	80044209	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.47256995152249E-5	0.006
18	77804209	T	G	18	80044209	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.963952879755289	0.686
18	77804210	A	C	18	80044210	y	y	splicing	RBFA(NM_024805:exon6:c.577-2A>C;NM_001171967:exon5:c.492-2A>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.577-2A>C;ENST00000262197:exon5:c.492-2A>C)	.	.	0.999972155025474	0.818
18	77804210	A	G	18	80044210	y	y	splicing	RBFA(NM_024805:exon6:c.577-2A>G;NM_001171967:exon5:c.492-2A>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.577-2A>G;ENST00000262197:exon5:c.492-2A>G)	.	.	0.999972155025474	0.836
18	77804210	A	T	18	80044210	y	y	splicing	RBFA(NM_024805:exon6:c.577-2A>T;NM_001171967:exon5:c.492-2A>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.577-2A>T;ENST00000262197:exon5:c.492-2A>T)	.	.	0.999982151912279	0.892
18	77804211	G	A	18	80044211	y	y	splicing	RBFA(NM_024805:exon6:c.577-1G>A;NM_001171967:exon5:c.492-1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.577-1G>A;ENST00000262197:exon5:c.492-1G>A)	.	.	0.99996748057446	0.91
18	77804211	G	C	18	80044211	y	y	splicing	RBFA(NM_024805:exon6:c.577-1G>C;NM_001171967:exon5:c.492-1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.577-1G>C;ENST00000262197:exon5:c.492-1G>C)	.	.	0.999968430223941	0.88
18	77804211	G	T	18	80044211	y	y	splicing	RBFA(NM_024805:exon6:c.577-1G>T;NM_001171967:exon5:c.492-1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.577-1G>T;ENST00000262197:exon5:c.492-1G>T)	.	.	0.999969242257053	0.898
18	77804212	C	A	18	80044212	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon5:c.C492A:p.S164R;RBFA:NM_024805:exon6:c.C577A:p.L193I;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.C577A:p.L193I;ENSG00000101546:ENST00000262197:exon5:c.C492A:p.S164R;	2.30718947637959E-5	0.0
18	77804212	C	G	18	80044212	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon5:c.C492G:p.S164R;RBFA:NM_024805:exon6:c.C577G:p.L193V;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.C577G:p.L193V;ENSG00000101546:ENST00000262197:exon5:c.C492G:p.S164R;	4.96314192819999E-5	0.07
18	77804212	C	T	18	80044212	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon6:c.C577T:p.L193F;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.C577T:p.L193F;	1.43852416928132E-4	0.146
18	77804213	T	A	18	80044213	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon5:c.T493A:p.L165M;RBFA:NM_024805:exon6:c.T578A:p.L193H;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.T578A:p.L193H;ENSG00000101546:ENST00000262197:exon5:c.T493A:p.L165M;	0.114977671957215	0.358
18	77804213	T	C	18	80044213	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon6:c.T578C:p.L193P;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.T578C:p.L193P;	0.173041981676811	0.34
18	77804213	T	G	18	80044213	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon5:c.T493G:p.L165V;RBFA:NM_024805:exon6:c.T578G:p.L193R;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.T578G:p.L193R;ENSG00000101546:ENST00000262197:exon5:c.T493G:p.L165V;	0.010882793503933	0.184
18	77804283	C	A	18	80044283	y	y	exonic	RBFA	stopgain SNV	RBFA:NM_001171967:exon5:c.C563A:p.S188X;	exonic	ENSG00000101546	stopgain SNV	ENSG00000101546:ENST00000262197:exon5:c.C563A:p.S188X;	6.41972385707984E-4	0.17
18	77804283	C	G	18	80044283	y	y	exonic	RBFA	stopgain SNV	RBFA:NM_001171967:exon5:c.C563G:p.S188X;	exonic	ENSG00000101546	stopgain SNV	ENSG00000101546:ENST00000262197:exon5:c.C563G:p.S188X;	0.00388436343032061	0.284
18	77804283	C	T	18	80044283	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon5:c.C563T:p.S188L;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000262197:exon5:c.C563T:p.S188L;	0.977747461669629	0.762
18	77804284	A	C	18	80044284	y	y	exonic	RBFA	synonymous SNV	RBFA:NM_001171967:exon5:c.A564C:p.S188S;RBFA:NM_024805:exon6:c.A649C:p.R217R;	exonic	ENSG00000101546	synonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.A649C:p.R217R;ENSG00000101546:ENST00000262197:exon5:c.A564C:p.S188S;	0.986702012832979	0.814
18	77804284	A	G	18	80044284	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon6:c.A649G:p.R217G;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.A649G:p.R217G;	0.974232959138244	0.798
18	77804284	A	T	18	80044284	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon6:c.A649T:p.R217W;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.A649T:p.R217W;	0.999660369456828	0.984
18	77804285	G	A	18	80044285	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon5:c.G565A:p.G189R;RBFA:NM_024805:exon6:c.G650A:p.R217K;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.G650A:p.R217K;ENSG00000101546:ENST00000262197:exon5:c.G565A:p.G189R;	0.999986848801078	0.996
18	77804285	G	C	18	80044285	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon5:c.G565C:p.G189R;RBFA:NM_024805:exon6:c.G650C:p.R217T;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.G650C:p.R217T;ENSG00000101546:ENST00000262197:exon5:c.G565C:p.G189R;	0.999994763439569	0.998
18	77804285	G	T	18	80044285	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon5:c.G565T:p.G189W;RBFA:NM_024805:exon6:c.G650T:p.R217M;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon6:c.G650T:p.R217M;ENSG00000101546:ENST00000262197:exon5:c.G565T:p.G189W;	0.999981160669055	0.944
18	77804286	G	A	18	80044286	y	y	splicing	RBFA(NM_024805:exon6:c.650+1G>A;NM_001171967:exon5:c.565+1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.650+1G>A;ENST00000262197:exon5:c.565+1G>A)	.	.	0.999972607317066	0.882
18	77804286	G	C	18	80044286	y	y	splicing	RBFA(NM_024805:exon6:c.650+1G>C;NM_001171967:exon5:c.565+1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.650+1G>C;ENST00000262197:exon5:c.565+1G>C)	.	.	0.999966996458791	0.87
18	77804286	G	T	18	80044286	y	y	splicing	RBFA(NM_024805:exon6:c.650+1G>T;NM_001171967:exon5:c.565+1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.650+1G>T;ENST00000262197:exon5:c.565+1G>T)	.	.	0.999972607317066	0.872
18	77804287	T	A	18	80044287	y	y	splicing	RBFA(NM_024805:exon6:c.650+2T>A;NM_001171967:exon5:c.565+2T>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.650+2T>A;ENST00000262197:exon5:c.565+2T>A)	.	.	0.999975839290682	0.86
18	77804287	T	C	18	80044287	y	y	splicing	RBFA(NM_024805:exon6:c.650+2T>C;NM_001171967:exon5:c.565+2T>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.650+2T>C;ENST00000262197:exon5:c.565+2T>C)	.	.	0.999231710043313	0.802
18	77804287	T	G	18	80044287	y	y	splicing	RBFA(NM_024805:exon6:c.650+2T>G;NM_001171967:exon5:c.565+2T>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon6:c.650+2T>G;ENST00000262197:exon5:c.565+2T>G)	.	.	0.999970890420065	0.85
18	77804288	G	A	18	80044288	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.95768041571742E-4	0.172
18	77804288	G	C	18	80044288	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.653774682140206	0.516
18	77804288	G	T	18	80044288	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.99101812445984	0.516
18	77804289	A	C	18	80044289	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.186728042447907	0.422
18	77804289	A	G	18	80044289	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.960618504900951	0.624
18	77804289	A	T	18	80044289	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.964725590951708	0.574
18	77804290	C	A	18	80044290	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.87839552363822E-5	0.022
18	77804290	C	G	18	80044290	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.76870441802658E-5	0.01
18	77804290	C	T	18	80044290	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.13387537266625E-5	0.086
18	77804291	G	A	18	80044291	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.76757114849736E-5	0.092
18	77804291	G	C	18	80044291	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.53580898816977E-5	0.004
18	77804291	G	T	18	80044291	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.22536038790695E-5	0.028
18	77804292	C	A	18	80044292	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	6.05536992413053E-5	0.002
18	77804292	C	G	18	80044292	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.35575941153297E-4	0.032
18	77804292	C	T	18	80044292	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	6.65929624031749E-4	0.05
18	77804293	A	C	18	80044293	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.51224928720934E-5	0.11
18	77804293	A	G	18	80044293	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.09932883202426E-5	0.0
18	77804293	A	T	18	80044293	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.78858104575809E-6	0.0
18	77805762	C	A	18	80045762	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.89870027741998E-4	0.05
18	77805762	C	G	18	80045762	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.68718151193799E-4	0.042
18	77805762	C	T	18	80045762	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.3844613680509E-4	0.01
18	77805763	T	A	18	80045763	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00116781253046593	0.152
18	77805763	T	C	18	80045763	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.52782236436301E-4	0.024
18	77805763	T	G	18	80045763	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.83015372398413E-4	0.104
18	77805764	T	A	18	80045764	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.48562137988661E-5	0.022
18	77805764	T	C	18	80045764	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.3977072597324E-5	0.0
18	77805764	T	G	18	80045764	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.39547808336999E-4	0.078
18	77805765	C	A	18	80045765	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.54357509092801E-5	0.016
18	77805765	C	G	18	80045765	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.29473174513133E-5	0.008
18	77805765	C	T	18	80045765	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.39174400202799E-5	0.0
18	77805766	C	A	18	80045766	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.12313562769661E-4	0.028
18	77805766	C	G	18	80045766	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	8.27740609214501E-5	0.01
18	77805766	C	T	18	80045766	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	7.83478628073833E-5	0.0
18	77805767	T	A	18	80045767	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	2.96376114041335E-4	0.062
18	77805767	T	C	18	80045767	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.39947668774815E-5	0.0
18	77805767	T	G	18	80045767	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	9.48660118286211E-5	0.026
18	77805768	T	A	18	80045768	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.62583097134622E-4	0.092
18	77805768	T	C	18	80045768	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	4.79967958919141E-5	0.0
18	77805768	T	G	18	80045768	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	5.56382793177811E-4	0.084
18	77805769	C	A	18	80045769	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.3822087178265E-5	0.002
18	77805769	C	G	18	80045769	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	3.0899560299182E-5	0.006
18	77805769	C	T	18	80045769	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.64516349002573E-5	0.002
18	77805770	C	A	18	80045770	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.75046004218296E-5	0.01
18	77805770	C	G	18	80045770	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.75046004218296E-5	0.008
18	77805770	C	T	18	80045770	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	1.75046004218296E-5	0.006
18	77805771	C	A	18	80045771	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.285592825824552	0.486
18	77805771	C	G	18	80045771	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.999621192554636	0.874
18	77805771	C	T	18	80045771	y	y	intronic	RBFA	.	.	intronic	ENSG00000101546;ENSG00000267127	.	.	0.00956113574041923	0.176
18	77805772	A	C	18	80045772	y	y	splicing	RBFA(NM_024805:exon7:c.651-2A>C;NM_001171967:exon6:c.566-2A>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon7:c.651-2A>C;ENST00000262197:exon6:c.566-2A>C)	.	.	0.999978156327223	0.932
18	77805772	A	G	18	80045772	y	y	splicing	RBFA(NM_024805:exon7:c.651-2A>G;NM_001171967:exon6:c.566-2A>G)	.	.	splicing	ENSG00000101546(ENST00000306735:exon7:c.651-2A>G;ENST00000262197:exon6:c.566-2A>G)	.	.	0.999978156327223	0.932
18	77805772	A	T	18	80045772	y	y	splicing	RBFA(NM_024805:exon7:c.651-2A>T;NM_001171967:exon6:c.566-2A>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon7:c.651-2A>T;ENST00000262197:exon6:c.566-2A>T)	.	.	0.999966514958823	0.936
18	77805773	G	A	18	80045773	y	y	splicing	RBFA(NM_024805:exon7:c.651-1G>A;NM_001171967:exon6:c.566-1G>A)	.	.	splicing	ENSG00000101546(ENST00000306735:exon7:c.651-1G>A;ENST00000262197:exon6:c.566-1G>A)	.	.	0.999916487880886	0.95
18	77805773	G	C	18	80045773	y	y	splicing	RBFA(NM_024805:exon7:c.651-1G>C;NM_001171967:exon6:c.566-1G>C)	.	.	splicing	ENSG00000101546(ENST00000306735:exon7:c.651-1G>C;ENST00000262197:exon6:c.566-1G>C)	.	.	0.999945520654368	0.948
18	77805773	G	T	18	80045773	y	y	splicing	RBFA(NM_024805:exon7:c.651-1G>T;NM_001171967:exon6:c.566-1G>T)	.	.	splicing	ENSG00000101546(ENST00000306735:exon7:c.651-1G>T;ENST00000262197:exon6:c.566-1G>T)	.	.	0.999945520654368	0.948
18	77805774	G	A	18	80045774	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon6:c.G566A:p.G189E;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000262197:exon6:c.G566A:p.G189E;	6.20539731641649E-4	0.138
18	77805774	G	C	18	80045774	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon6:c.G566C:p.G189A;RBFA:NM_024805:exon7:c.G651C:p.R217S;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon7:c.G651C:p.R217S;ENSG00000101546:ENST00000262197:exon6:c.G566C:p.G189A;	0.00129609604249364	0.23
18	77805774	G	T	18	80045774	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_001171967:exon6:c.G566T:p.G189V;RBFA:NM_024805:exon7:c.G651T:p.R217S;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon7:c.G651T:p.R217S;ENSG00000101546:ENST00000262197:exon6:c.G566T:p.G189V;	0.0242111979637691	0.382
18	77805775	G	A	18	80045775	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon7:c.G652A:p.D218N;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon7:c.G652A:p.D218N;	3.62743625897872E-5	0.0
18	77805775	G	C	18	80045775	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon7:c.G652C:p.D218H;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon7:c.G652C:p.D218H;	3.26481846723991E-4	0.02
18	77805775	G	T	18	80045775	y	y	exonic	RBFA	nonsynonymous SNV	RBFA:NM_024805:exon7:c.G652T:p.D218Y;	exonic	ENSG00000101546	nonsynonymous SNV	ENSG00000101546:ENST00000306735:exon7:c.G652T:p.D218Y;	5.5949230373422E-5	0.002
18	77867354	G	A	18	80109470	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	2.67243351881447E-4	0.018
18	77867354	G	C	18	80109470	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	1.65460658005581E-4	0.012
18	77867354	G	T	18	80109470	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	6.66964888653191E-4	0.09
18	77867355	C	A	18	80109471	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	5.63250350925012E-5	0.086
18	77867355	C	G	18	80109471	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	6.50997076773045E-4	0.034
18	77867355	C	T	18	80109471	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.00241207516630467	0.094
18	77867356	G	A	18	80109472	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.999961918998204	0.97
18	77867356	G	C	18	80109472	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.999994652906552	0.96
18	77867356	G	T	18	80109472	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.999941366628576	0.946
18	77867357	G	A	18	80109473	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999983752527416	0.804
18	77867357	G	C	18	80109473	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.99999133963084	0.778
18	77867357	G	T	18	80109473	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.99999133963084	0.792
18	77867358	T	A	18	80109474	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999979443890891	0.688
18	77867358	T	C	18	80109474	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.767902658140476	0.47
18	77867358	T	G	18	80109474	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999983063946468	0.686
18	77867359	A	C	18	80109475	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.985772266063693	0.852
18	77867359	A	G	18	80109475	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0977484237995705	0.378
18	77867359	A	T	18	80109475	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.986010121600011	0.844
18	77867360	G	A	18	80109476	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.50484192713762E-4	0.044
18	77867360	G	C	18	80109476	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.47190513655232E-4	0.004
18	77867360	G	T	18	80109476	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.47190513655232E-4	0.002
18	77867361	G	A	18	80109477	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999936899338316	0.908
18	77867361	G	C	18	80109477	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999962543589519	0.942
18	77867361	G	T	18	80109477	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999929730864969	0.942
18	77867362	T	A	18	80109478	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.442228326578832	0.33
18	77867362	T	C	18	80109478	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.389790539901734	0.344
18	77867362	T	G	18	80109478	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.439437006891572	0.39
18	77867363	A	C	18	80109479	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00110673270705421	0.01
18	77867363	A	G	18	80109479	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.06606792854621E-4	0.004
18	77867363	A	T	18	80109479	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	7.9806817318646E-4	0.002
18	77867364	C	A	18	80109480	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.87700064303916E-4	0.006
18	77867364	C	G	18	80109480	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.0648719226442E-4	0.0
18	77867364	C	T	18	80109480	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	9.31770417702106E-5	0.008
18	77867903	T	A	18	80110019	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	2.38056006613624E-5	0.0
18	77867903	T	C	18	80110019	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	2.38056006613624E-5	0.0
18	77867903	T	G	18	80110019	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	2.38056006613624E-5	0.0
18	77867904	A	C	18	80110020	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	6.35428655471156E-5	0.002
18	77867904	A	G	18	80110020	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	6.35428655471156E-5	0.002
18	77867904	A	T	18	80110020	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	6.35428655471156E-5	0.002
18	77867905	G	A	18	80110021	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	6.99263190704948E-5	0.0
18	77867905	G	C	18	80110021	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	6.99263190704948E-5	0.0
18	77867905	G	T	18	80110021	n	y	intronic	ADNP2	.	.	UTR5	ENSG00000101544	.	.	6.99263190704948E-5	0.0
18	77867906	G	A	18	80110022	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544	.	.	2.55787372000163E-4	0.014
18	77867906	G	C	18	80110022	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544	.	.	1.77978745885032E-4	0.014
18	77867906	G	T	18	80110022	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544	.	.	1.77978745885032E-4	0.014
18	77867907	T	A	18	80110023	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544	.	.	2.13105871323179E-5	0.0
18	77867907	T	C	18	80110023	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544	.	.	1.4203087927027E-4	0.008
18	77867907	T	G	18	80110023	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544	.	.	6.09332237519757E-5	0.002
18	77867908	C	A	18	80110024	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.77978745885032E-4	0.0
18	77867908	C	G	18	80110024	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.74359842730815E-4	0.0
18	77867908	C	T	18	80110024	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.77978745885032E-4	0.0
18	77867909	A	C	18	80110025	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	8.17910652552364E-5	0.0
18	77867909	A	G	18	80110025	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	8.17910652552364E-5	0.0
18	77867909	A	T	18	80110025	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	9.0271673026669E-5	0.0
18	77867910	G	A	18	80110026	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	7.48306501328221E-5	0.0
18	77867910	G	C	18	80110026	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.11713759611921E-5	0.0
18	77867910	G	T	18	80110026	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.11713759611921E-5	0.0
18	77867911	G	A	18	80110027	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.99263190704948E-5	0.0
18	77867911	G	C	18	80110027	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.99263190704948E-5	0.0
18	77867911	G	T	18	80110027	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.99263190704948E-5	0.0
18	77867912	A	C	18	80110028	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.54230119513068E-5	0.0
18	77867912	A	G	18	80110028	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.54230119513068E-5	0.0
18	77867912	A	T	18	80110028	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.54230119513068E-5	0.0
18	77867913	G	A	18	80110029	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	8.49702646665041E-5	0.006
18	77867913	G	C	18	80110029	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.08802802279601E-5	0.004
18	77867913	G	T	18	80110029	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	8.49702646665041E-5	0.006
18	77875401	T	A	18	80117518	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00646894568334371	0.126
18	77875401	T	C	18	80117518	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00165948970837812	0.03
18	77875401	T	G	18	80117518	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0156650478593153	0.122
18	77875402	T	A	18	80117519	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0564555995533754	0.266
18	77875402	T	C	18	80117519	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0125174385454537	0.148
18	77875402	T	G	18	80117519	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0225471267920894	0.246
18	77875403	T	A	18	80117520	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.94690563876953E-4	0.072
18	77875403	T	C	18	80117520	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.14707385103491E-5	0.0
18	77875403	T	G	18	80117520	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.23999849349474E-4	0.108
18	77875404	C	A	18	80117521	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00190643172083188	0.208
18	77875404	C	G	18	80117521	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	9.51962443360691E-4	0.228
18	77875404	C	T	18	80117521	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.48526285196633E-5	0.01
18	77875405	C	A	18	80117522	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.001048613652287	0.054
18	77875405	C	G	18	80117522	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00217175879770056	0.076
18	77875405	C	T	18	80117522	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.8601470881924E-5	0.0
18	77875406	T	A	18	80117523	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00439781453069269	0.028
18	77875406	T	C	18	80117523	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.12795257123604E-4	0.026
18	77875406	T	G	18	80117523	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00319753578169106	0.068
18	77875407	T	A	18	80117524	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	7.04969177776341E-4	0.076
18	77875407	T	C	18	80117524	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.44599435291439E-5	0.004
18	77875407	T	G	18	80117524	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	7.50082337292656E-4	0.09
18	77875408	T	A	18	80117525	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00713406396235265	0.198
18	77875408	T	C	18	80117525	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00304698049581701	0.064
18	77875408	T	G	18	80117525	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0506504242750322	0.268
18	77875409	T	A	18	80117526	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.38509476987071E-5	0.004
18	77875409	T	C	18	80117526	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.54436745562774E-5	0.0
18	77875409	T	G	18	80117526	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.65896109611617E-4	0.002
18	77875410	A	C	18	80117527	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.3751227857349E-4	0.068
18	77875410	A	G	18	80117527	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0213747965275665	0.354
18	77875410	A	T	18	80117527	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.45753193248767E-4	0.0
18	77875411	A	C	18	80117528	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999949303555747	0.866
18	77875411	A	G	18	80117528	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999949303555747	0.876
18	77875411	A	T	18	80117528	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999967504297517	0.892
18	77875412	G	A	18	80117529	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999946188727699	0.94
18	77875412	G	C	18	80117529	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999946188727699	0.93
18	77875412	G	T	18	80117529	y	y	splicing	ADNP2	.	.	splicing	ENSG00000101544	.	.	0.999946188727699	0.952
18	77875413	G	A	18	80117530	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.86473727898986	0.624
18	77875413	G	C	18	80117530	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.952628856823007	0.7
18	77875413	G	T	18	80117530	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.991818777437964	0.76
18	77875414	A	C	18	80117531	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.0156038435382634	0.14
18	77875414	A	G	18	80117531	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.00524277181743295	0.024
18	77875414	A	T	18	80117531	y	y	UTR5	ADNP2	.	.	UTR5	ENSG00000101544	.	.	0.006108502108501	0.038
18	77875531	A	C	18	80117648	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon2:c.A106C:p.K36Q;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon2:c.A106C:p.K36Q;ENSG00000101544:ENST00000559951:exon2:c.A106C:p.K36Q;	0.0133437019312027	0.126
18	77875531	A	G	18	80117648	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon2:c.A106G:p.K36E;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon2:c.A106G:p.K36E;ENSG00000101544:ENST00000559951:exon2:c.A106G:p.K36E;	1.39696251929579E-4	0.086
18	77875531	A	T	18	80117648	y	y	exonic	ADNP2	stopgain SNV	ADNP2:NM_014913:exon2:c.A106T:p.K36X;	exonic	ENSG00000101544	stopgain SNV	ENSG00000101544:ENST00000262198:exon2:c.A106T:p.K36X;ENSG00000101544:ENST00000559951:exon2:c.A106T:p.K36X;	0.0504806981136364	0.41
18	77875532	A	C	18	80117649	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon2:c.A107C:p.K36T;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon2:c.A107C:p.K36T;ENSG00000101544:ENST00000559951:exon2:c.A107C:p.K36T;	0.989999744939556	0.904
18	77875532	A	G	18	80117649	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon2:c.A107G:p.K36R;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon2:c.A107G:p.K36R;ENSG00000101544:ENST00000559951:exon2:c.A107G:p.K36R;	0.992258174881547	0.884
18	77875532	A	T	18	80117649	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon2:c.A107T:p.K36M;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon2:c.A107T:p.K36M;ENSG00000101544:ENST00000559951:exon2:c.A107T:p.K36M;	0.993179238369319	0.708
18	77875533	G	A	18	80117650	y	y	exonic	ADNP2	synonymous SNV	ADNP2:NM_014913:exon2:c.G108A:p.K36K;	exonic	ENSG00000101544	synonymous SNV	ENSG00000101544:ENST00000262198:exon2:c.G108A:p.K36K;ENSG00000101544:ENST00000559951:exon2:c.G108A:p.K36K;	0.999353057584311	0.968
18	77875533	G	C	18	80117650	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon2:c.G108C:p.K36N;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon2:c.G108C:p.K36N;ENSG00000101544:ENST00000559951:exon2:c.G108C:p.K36N;	0.999943294411259	0.984
18	77875533	G	T	18	80117650	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon2:c.G108T:p.K36N;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon2:c.G108T:p.K36N;ENSG00000101544:ENST00000559951:exon2:c.G108T:p.K36N;	0.999740093146296	0.992
18	77875534	G	A	18	80117651	y	y	splicing	ADNP2(NM_014913:exon2:c.108+1G>A)	.	.	splicing	ENSG00000101544(ENST00000262198:exon2:c.108+1G>A;ENST00000559951:exon2:c.108+1G>A;ENST00000560561:exon1:c.43+1G>A;ENST00000561195:exon1:c.35+1G>A)	.	.	0.999988247793601	0.934
18	77875534	G	C	18	80117651	y	y	splicing	ADNP2(NM_014913:exon2:c.108+1G>C)	.	.	splicing	ENSG00000101544(ENST00000262198:exon2:c.108+1G>C;ENST00000559951:exon2:c.108+1G>C;ENST00000560561:exon1:c.43+1G>C;ENST00000561195:exon1:c.35+1G>C)	.	.	0.999988247793601	0.934
18	77875534	G	T	18	80117651	y	y	splicing	ADNP2(NM_014913:exon2:c.108+1G>T)	.	.	splicing	ENSG00000101544(ENST00000262198:exon2:c.108+1G>T;ENST00000559951:exon2:c.108+1G>T;ENST00000560561:exon1:c.43+1G>T;ENST00000561195:exon1:c.35+1G>T)	.	.	0.999988247793601	0.934
18	77875535	T	A	18	80117652	y	y	splicing	ADNP2(NM_014913:exon2:c.108+2T>A)	.	.	splicing	ENSG00000101544(ENST00000262198:exon2:c.108+2T>A;ENST00000559951:exon2:c.108+2T>A;ENST00000560561:exon1:c.43+2T>A;ENST00000561195:exon1:c.35+2T>A)	.	.	0.999993519952936	0.928
18	77875535	T	C	18	80117652	y	y	splicing	ADNP2(NM_014913:exon2:c.108+2T>C)	.	.	splicing	ENSG00000101544(ENST00000262198:exon2:c.108+2T>C;ENST00000559951:exon2:c.108+2T>C;ENST00000560561:exon1:c.43+2T>C;ENST00000561195:exon1:c.35+2T>C)	.	.	0.989490785358834	0.596
18	77875535	T	G	18	80117652	y	y	splicing	ADNP2(NM_014913:exon2:c.108+2T>G)	.	.	splicing	ENSG00000101544(ENST00000262198:exon2:c.108+2T>G;ENST00000559951:exon2:c.108+2T>G;ENST00000560561:exon1:c.43+2T>G;ENST00000561195:exon1:c.35+2T>G)	.	.	0.999993519952936	0.926
18	77875536	A	C	18	80117653	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.942317795140955	0.626
18	77875536	A	G	18	80117653	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0024509381987787	0.11
18	77875536	A	T	18	80117653	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.833038498692616	0.534
18	77875537	A	C	18	80117654	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.62064936566404	0.316
18	77875537	A	G	18	80117654	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.72867776732236	0.36
18	77875537	A	T	18	80117654	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.661292350328334	0.314
18	77875538	G	A	18	80117655	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.993915314054537	0.766
18	77875538	G	C	18	80117655	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.935224828034647	0.716
18	77875538	G	T	18	80117655	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.990794101015577	0.71
18	77875539	A	C	18	80117656	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.51508538709665E-4	0.004
18	77875539	A	G	18	80117656	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.45604173566591E-5	0.0
18	77875539	A	T	18	80117656	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.84897996490772E-5	0.006
18	77875540	G	A	18	80117657	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.76135533459969E-5	0.004
18	77875540	G	C	18	80117657	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.76135533459969E-5	0.0
18	77875540	G	T	18	80117657	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.95044313715036E-5	0.002
18	77875541	G	A	18	80117658	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.80274866394675E-5	0.0
18	77875541	G	C	18	80117658	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.76135533459969E-5	0.0
18	77875541	G	T	18	80117658	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.80274866394675E-5	0.0
18	77890974	C	A	18	80133091	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.3984822383901E-4	0.098
18	77890974	C	G	18	80133091	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.79784662755503E-4	0.118
18	77890974	C	T	18	80133091	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.45556524499297E-5	0.034
18	77890975	C	A	18	80133092	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00539503300636461	0.212
18	77890975	C	G	18	80133092	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	7.79566422748502E-4	0.218
18	77890975	C	T	18	80133092	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.05346684617152E-4	0.086
18	77890976	T	A	18	80133093	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0241980169047455	0.306
18	77890976	T	C	18	80133093	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00114786719069169	0.014
18	77890976	T	G	18	80133093	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0346297255896708	0.26
18	77890977	T	A	18	80133094	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0115955932956816	0.102
18	77890977	T	C	18	80133094	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.9575893781104E-4	0.116
18	77890977	T	G	18	80133094	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0165270481530099	0.122
18	77890978	T	A	18	80133095	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00178010599232334	0.104
18	77890978	T	C	18	80133095	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	7.83525445962753E-4	0.006
18	77890978	T	G	18	80133095	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00176608028288635	0.09
18	77890979	T	A	18	80133096	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	9.53797962734039E-4	0.032
18	77890979	T	C	18	80133096	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.866823610017E-5	0.096
18	77890979	T	G	18	80133096	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00198560243584697	0.03
18	77890980	T	A	18	80133097	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.4103940782823E-4	0.108
18	77890980	T	C	18	80133097	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.54843946576204E-5	0.0
18	77890980	T	G	18	80133097	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0013210143128834	0.098
18	77890981	A	C	18	80133098	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	7.66158205697007E-5	0.0
18	77890981	A	G	18	80133098	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.07211958156618E-4	0.024
18	77890981	A	T	18	80133098	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.36067272588177E-4	0.014
18	77890982	A	C	18	80133099	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00191999852406737	0.1
18	77890982	A	G	18	80133099	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999928519845197	0.952
18	77890982	A	T	18	80133099	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00170362219929141	0.152
18	77890983	A	C	18	80133100	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	9.5065327591386E-4	0.072
18	77890983	A	G	18	80133100	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.893021225002634	0.564
18	77890983	A	T	18	80133100	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00223323973194242	0.024
18	77890984	A	C	18	80133101	y	y	splicing	ADNP2(NM_014913:exon3:c.109-2A>C)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.109-2A>C;ENST00000560752:exon3:c.43-2A>C;ENST00000559951:exon3:c.109-2A>C;ENST00000560561:exon2:c.44-2A>C)	.	.	0.999989917668626	0.902
18	77890984	A	G	18	80133101	y	y	splicing	ADNP2(NM_014913:exon3:c.109-2A>G)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.109-2A>G;ENST00000560752:exon3:c.43-2A>G;ENST00000559951:exon3:c.109-2A>G;ENST00000560561:exon2:c.44-2A>G)	.	.	0.999989917668626	0.902
18	77890984	A	T	18	80133101	y	y	splicing	ADNP2(NM_014913:exon3:c.109-2A>T)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.109-2A>T;ENST00000560752:exon3:c.43-2A>T;ENST00000559951:exon3:c.109-2A>T;ENST00000560561:exon2:c.44-2A>T)	.	.	0.999989917668626	0.902
18	77890985	G	A	18	80133102	y	y	splicing	ADNP2(NM_014913:exon3:c.109-1G>A)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.109-1G>A;ENST00000560752:exon3:c.43-1G>A;ENST00000559951:exon3:c.109-1G>A;ENST00000560561:exon2:c.44-1G>A)	.	.	0.999986675681007	0.908
18	77890985	G	C	18	80133102	y	y	splicing	ADNP2(NM_014913:exon3:c.109-1G>C)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.109-1G>C;ENST00000560752:exon3:c.43-1G>C;ENST00000559951:exon3:c.109-1G>C;ENST00000560561:exon2:c.44-1G>C)	.	.	0.999986675681007	0.908
18	77890985	G	T	18	80133102	y	y	splicing	ADNP2(NM_014913:exon3:c.109-1G>T)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.109-1G>T;ENST00000560752:exon3:c.43-1G>T;ENST00000559951:exon3:c.109-1G>T;ENST00000560561:exon2:c.44-1G>T)	.	.	0.999986675681007	0.908
18	77890986	G	A	18	80133103	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.G109A:p.D37N;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G109A:p.D37N;ENSG00000101544:ENST00000559951:exon3:c.G109A:p.D37N;ENSG00000101544:ENST00000560752:exon3:c.G43A:p.D15N;	0.999773439557195	0.938
18	77890986	G	C	18	80133103	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.G109C:p.D37H;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G109C:p.D37H;ENSG00000101544:ENST00000559951:exon3:c.G109C:p.D37H;ENSG00000101544:ENST00000560752:exon3:c.G43C:p.D15H;	0.99987519838338	0.984
18	77890986	G	T	18	80133103	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.G109T:p.D37Y;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G109T:p.D37Y;ENSG00000101544:ENST00000559951:exon3:c.G109T:p.D37Y;ENSG00000101544:ENST00000560752:exon3:c.G43T:p.D15Y;	0.999927530533121	0.996
18	77890987	A	C	18	80133104	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.A110C:p.D37A;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.A110C:p.D37A;ENSG00000101544:ENST00000559951:exon3:c.A110C:p.D37A;ENSG00000101544:ENST00000560752:exon3:c.A44C:p.D15A;	0.0443858586386846	0.12
18	77890987	A	G	18	80133104	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.A110G:p.D37G;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.A110G:p.D37G;ENSG00000101544:ENST00000559951:exon3:c.A110G:p.D37G;ENSG00000101544:ENST00000560752:exon3:c.A44G:p.D15G;	0.102971106028295	0.158
18	77890987	A	T	18	80133104	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.A110T:p.D37V;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.A110T:p.D37V;ENSG00000101544:ENST00000559951:exon3:c.A110T:p.D37V;ENSG00000101544:ENST00000560752:exon3:c.A44T:p.D15V;	0.0570308388665213	0.132
18	77891073	G	A	18	80133190	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.G196A:p.V66M;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G196A:p.V66M;ENSG00000101544:ENST00000559951:exon3:c.G196A:p.V66M;ENSG00000101544:ENST00000560752:exon3:c.G130A:p.V44M;	2.44050859591148E-4	0.094
18	77891073	G	C	18	80133190	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.G196C:p.V66L;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G196C:p.V66L;ENSG00000101544:ENST00000559951:exon3:c.G196C:p.V66L;ENSG00000101544:ENST00000560752:exon3:c.G130C:p.V44L;	3.79105468827408E-4	0.102
18	77891073	G	T	18	80133190	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.G196T:p.V66L;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G196T:p.V66L;ENSG00000101544:ENST00000559951:exon3:c.G196T:p.V66L;ENSG00000101544:ENST00000560752:exon3:c.G130T:p.V44L;	0.0075141895476446	0.312
18	77891074	T	A	18	80133191	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.T197A:p.V66E;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.T197A:p.V66E;ENSG00000101544:ENST00000559951:exon3:c.T197A:p.V66E;ENSG00000101544:ENST00000560752:exon3:c.T131A:p.V44E;	3.6946608783464E-4	0.156
18	77891074	T	C	18	80133191	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.T197C:p.V66A;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.T197C:p.V66A;ENSG00000101544:ENST00000559951:exon3:c.T197C:p.V66A;ENSG00000101544:ENST00000560752:exon3:c.T131C:p.V44A;	1.95749857056658E-4	0.004
18	77891074	T	G	18	80133191	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon3:c.T197G:p.V66G;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.T197G:p.V66G;ENSG00000101544:ENST00000559951:exon3:c.T197G:p.V66G;ENSG00000101544:ENST00000560752:exon3:c.T131G:p.V44G;	0.00235381852899938	0.058
18	77891075	G	A	18	80133192	y	y	exonic	ADNP2	synonymous SNV	ADNP2:NM_014913:exon3:c.G198A:p.V66V;	exonic	ENSG00000101544	synonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G198A:p.V66V;ENSG00000101544:ENST00000559951:exon3:c.G198A:p.V66V;ENSG00000101544:ENST00000560752:exon3:c.G132A:p.V44V;	0.999835825344305	1.0
18	77891075	G	C	18	80133192	y	y	exonic	ADNP2	synonymous SNV	ADNP2:NM_014913:exon3:c.G198C:p.V66V;	exonic	ENSG00000101544	synonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G198C:p.V66V;ENSG00000101544:ENST00000559951:exon3:c.G198C:p.V66V;ENSG00000101544:ENST00000560752:exon3:c.G132C:p.V44V;	0.999926232432326	0.946
18	77891075	G	T	18	80133192	y	y	exonic	ADNP2	synonymous SNV	ADNP2:NM_014913:exon3:c.G198T:p.V66V;	exonic	ENSG00000101544	synonymous SNV	ENSG00000101544:ENST00000262198:exon3:c.G198T:p.V66V;ENSG00000101544:ENST00000559951:exon3:c.G198T:p.V66V;ENSG00000101544:ENST00000560752:exon3:c.G132T:p.V44V;	0.999794772160766	0.954
18	77891076	G	A	18	80133193	y	y	splicing	ADNP2(NM_014913:exon3:c.198+1G>A)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.198+1G>A;ENST00000560752:exon3:c.132+1G>A;ENST00000559951:exon3:c.198+1G>A;ENST00000560561:exon2:c.133+1G>A)	.	.	0.999986675681007	0.94
18	77891076	G	C	18	80133193	y	y	splicing	ADNP2(NM_014913:exon3:c.198+1G>C)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.198+1G>C;ENST00000560752:exon3:c.132+1G>C;ENST00000559951:exon3:c.198+1G>C;ENST00000560561:exon2:c.133+1G>C)	.	.	0.999986675681007	0.94
18	77891076	G	T	18	80133193	y	y	splicing	ADNP2(NM_014913:exon3:c.198+1G>T)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.198+1G>T;ENST00000560752:exon3:c.132+1G>T;ENST00000559951:exon3:c.198+1G>T;ENST00000560561:exon2:c.133+1G>T)	.	.	0.999986675681007	0.94
18	77891077	T	A	18	80133194	y	y	splicing	ADNP2(NM_014913:exon3:c.198+2T>A)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.198+2T>A;ENST00000560752:exon3:c.132+2T>A;ENST00000559951:exon3:c.198+2T>A;ENST00000560561:exon2:c.133+2T>A)	.	.	0.999989917668626	0.928
18	77891077	T	C	18	80133194	y	y	splicing	ADNP2(NM_014913:exon3:c.198+2T>C)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.198+2T>C;ENST00000560752:exon3:c.132+2T>C;ENST00000559951:exon3:c.198+2T>C;ENST00000560561:exon2:c.133+2T>C)	.	.	0.994485838132979	0.634
18	77891077	T	G	18	80133194	y	y	splicing	ADNP2(NM_014913:exon3:c.198+2T>G)	.	.	splicing	ENSG00000101544(ENST00000262198:exon3:c.198+2T>G;ENST00000560752:exon3:c.132+2T>G;ENST00000559951:exon3:c.198+2T>G;ENST00000560561:exon2:c.133+2T>G)	.	.	0.999989917668626	0.928
18	77891078	A	C	18	80133195	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999958256929527	0.966
18	77891078	A	G	18	80133195	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.998375353417546	0.958
18	77891078	A	T	18	80133195	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999878117466566	0.962
18	77891079	T	A	18	80133196	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.54150759795202E-4	0.034
18	77891079	T	C	18	80133196	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.2358871323678E-4	0.008
18	77891079	T	G	18	80133196	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.55824443215853E-5	0.016
18	77891080	G	A	18	80133197	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999980353196153	1.0
18	77891080	G	C	18	80133197	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999984907807344	0.982
18	77891080	G	T	18	80133197	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.999833358729499	0.992
18	77891081	T	A	18	80133198	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.927446570470167	0.69
18	77891081	T	C	18	80133198	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.795689992038672	0.68
18	77891081	T	G	18	80133198	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.842725983442463	0.714
18	77891082	A	C	18	80133199	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.71916635549635E-4	0.004
18	77891082	A	G	18	80133199	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.63115211239268E-4	0.01
18	77891082	A	T	18	80133199	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.58326053578517E-4	0.042
18	77891083	T	A	18	80133200	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.91328049786543E-4	0.004
18	77891083	T	C	18	80133200	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.59333470580485E-4	0.006
18	77891083	T	G	18	80133200	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.01168991394727E-4	0.004
18	77891563	T	A	18	80133680	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.11713759611921E-5	0.008
18	77891563	T	C	18	80133680	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.50552619103442E-5	0.006
18	77891563	T	G	18	80133680	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.50552619103442E-5	0.006
18	77891564	T	A	18	80133681	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.3994564522384E-5	0.01
18	77891564	T	C	18	80133681	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.20862408805592E-5	0.138
18	77891564	T	G	18	80133681	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.20862408805592E-5	0.046
18	77891565	C	A	18	80133682	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.75975791917607E-4	0.028
18	77891565	C	G	18	80133682	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.35307969798165E-4	0.076
18	77891565	C	T	18	80133682	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.75975791917607E-4	0.004
18	77891566	T	A	18	80133683	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.89925739660516E-5	0.004
18	77891566	T	C	18	80133683	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.31929338280547E-5	0.004
18	77891566	T	G	18	80133683	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.31929338280547E-5	0.004
18	77891567	G	A	18	80133684	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.99153316237132E-5	0.002
18	77891567	G	C	18	80133684	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.99153316237132E-5	0.002
18	77891567	G	T	18	80133684	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.99153316237132E-5	0.002
18	77891568	C	A	18	80133685	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.7763139943859E-5	0.0
18	77891568	C	G	18	80133685	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.7763139943859E-5	0.0
18	77891568	C	T	18	80133685	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.7763139943859E-5	0.0
18	77891569	C	A	18	80133686	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.72365104571721E-5	0.03
18	77891569	C	G	18	80133686	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.72365104571721E-5	0.028
18	77891569	C	T	18	80133686	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.52159304237333E-5	0.036
18	77891570	A	C	18	80133687	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.99328296935829E-5	0.012
18	77891570	A	G	18	80133687	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.99328296935829E-5	0.012
18	77891570	A	T	18	80133687	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.73406751144135E-5	0.004
18	77891571	C	A	18	80133688	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.59846007660086E-5	0.0
18	77891571	C	G	18	80133688	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.59846007660086E-5	0.0
18	77891571	C	T	18	80133688	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.88281479427096E-5	0.0
18	77891572	C	A	18	80133689	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.39502748842236E-5	0.0
18	77891572	C	G	18	80133689	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.39502748842236E-5	0.008
18	77891572	C	T	18	80133689	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.1548255067557E-5	0.0
18	77891573	A	C	18	80133690	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.134-2A>C)	.	.	3.78864525412067E-5	0.002
18	77891573	A	G	18	80133690	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.134-2A>G)	.	.	3.78864525412067E-5	0.002
18	77891573	A	T	18	80133690	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.134-2A>T)	.	.	3.78864525412067E-5	0.002
18	77891574	G	A	18	80133691	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.134-1G>A)	.	.	8.71037690926497E-5	0.006
18	77891574	G	C	18	80133691	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.134-1G>C)	.	.	8.71037690926497E-5	0.006
18	77891574	G	T	18	80133691	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.134-1G>T)	.	.	8.71037690926497E-5	0.004
18	77891575	T	A	18	80133692	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	1.96638438091922E-5	0.0
18	77891575	T	C	18	80133692	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	1.96638438091922E-5	0.0
18	77891575	T	G	18	80133692	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	1.96638438091922E-5	0.0
18	77891576	T	A	18	80133693	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	3.07620641825897E-5	0.0
18	77891576	T	C	18	80133693	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	3.07620641825897E-5	0.0
18	77891576	T	G	18	80133693	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	3.07620641825897E-5	0.0
18	77891687	A	C	18	80133804	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	4.81456590373184E-4	0.104
18	77891687	A	G	18	80133804	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	4.81456590373184E-4	0.096
18	77891687	A	T	18	80133804	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	3.60081151915995E-4	0.006
18	77891688	A	C	18	80133805	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	3.60081151915995E-4	0.05
18	77891688	A	G	18	80133805	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	3.60081151915995E-4	0.066
18	77891688	A	T	18	80133805	n	y	intronic	ADNP2	.	.	exonic	ENSG00000101544	unknown	UNKNOWN	3.60081151915995E-4	0.004
18	77891689	G	A	18	80133806	n	y	intronic	ADNP2	.	.	UTR3	ENSG00000101544	.	.	1.42005417025298E-5	0.0
18	77891689	G	C	18	80133806	n	y	intronic	ADNP2	.	.	UTR3	ENSG00000101544	.	.	1.42005417025298E-5	0.002
18	77891689	G	T	18	80133806	n	y	intronic	ADNP2	.	.	UTR3	ENSG00000101544	.	.	1.42005417025298E-5	0.0
18	77891690	G	A	18	80133807	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.248+1G>A)	.	.	2.41256482875619E-5	0.004
18	77891690	G	C	18	80133807	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.248+1G>C)	.	.	2.2358802390823E-5	0.0
18	77891690	G	T	18	80133807	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.248+1G>T)	.	.	2.41256482875619E-5	0.0
18	77891691	T	A	18	80133808	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.248+2T>A)	.	.	8.45777556113641E-6	0.002
18	77891691	T	C	18	80133808	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.248+2T>C)	.	.	8.45777556113641E-6	0.002
18	77891691	T	G	18	80133808	n	y	intronic	ADNP2	.	.	splicing	ENSG00000101544(ENST00000560561:exon3:c.248+2T>G)	.	.	8.45777556113641E-6	0.002
18	77891692	A	C	18	80133809	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.46004206284423E-5	0.0
18	77891692	A	G	18	80133809	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.46004206284423E-5	0.0
18	77891692	A	T	18	80133809	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.46004206284423E-5	0.0
18	77891693	T	A	18	80133810	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.60081151915995E-4	0.036
18	77891693	T	C	18	80133810	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.81456590373184E-4	0.052
18	77891693	T	G	18	80133810	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.81456590373184E-4	0.062
18	77891694	T	A	18	80133811	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.60081151915995E-4	0.03
18	77891694	T	C	18	80133811	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.81456590373184E-4	0.062
18	77891694	T	G	18	80133811	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	4.81456590373184E-4	0.066
18	77891695	T	A	18	80133812	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.0086839819578E-5	0.006
18	77891695	T	C	18	80133812	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.0086839819578E-5	0.002
18	77891695	T	G	18	80133812	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.0086839819578E-5	0.002
18	77891696	C	A	18	80133813	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.99153316237132E-5	0.002
18	77891696	C	G	18	80133813	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.99153316237132E-5	0.002
18	77891696	C	T	18	80133813	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.99153316237132E-5	0.002
18	77891697	A	C	18	80133814	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.07620641825897E-5	0.0
18	77891697	A	G	18	80133814	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.07620641825897E-5	0.0
18	77891697	A	T	18	80133814	n	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.07620641825897E-5	0.0
18	77893483	T	A	18	80135600	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00266515868901828	0.18
18	77893483	T	C	18	80135600	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.89828681872258E-4	0.03
18	77893483	T	G	18	80135600	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00161570579939231	0.218
18	77893484	T	A	18	80135601	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.1395992416719	0.436
18	77893484	T	C	18	80135601	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0253305860703909	0.088
18	77893484	T	G	18	80135601	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0698105310853847	0.294
18	77893485	C	A	18	80135602	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.72012251160276E-4	0.048
18	77893485	C	G	18	80135602	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.18785187186394E-4	0.05
18	77893485	C	T	18	80135602	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.02725528711265E-4	0.002
18	77893486	T	A	18	80135603	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0177263122072056	0.1
18	77893486	T	C	18	80135603	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.48707347760071E-4	0.016
18	77893486	T	G	18	80135603	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0210794734396565	0.094
18	77893487	T	A	18	80135604	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00213223030831242	0.104
18	77893487	T	C	18	80135604	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.00682610701588E-4	0.004
18	77893487	T	G	18	80135604	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.17697846037853E-4	0.084
18	77893488	T	A	18	80135605	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.031725804881388	0.116
18	77893488	T	C	18	80135605	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	5.67435477046491E-4	0.012
18	77893488	T	G	18	80135605	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0206434304674649	0.154
18	77893489	T	A	18	80135606	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0113839511141879	0.074
18	77893489	T	C	18	80135606	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	1.42296599627361E-4	0.022
18	77893489	T	G	18	80135606	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.00554053078219406	0.074
18	77893490	A	C	18	80135607	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	6.4905182515604E-5	0.002
18	77893490	A	G	18	80135607	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	3.06686775902194E-4	0.01
18	77893490	A	T	18	80135607	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.71781816978879E-5	0.006
18	77893491	A	C	18	80135608	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.49267760483978E-4	0.008
18	77893491	A	G	18	80135608	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.73716640231621	0.566
18	77893491	A	T	18	80135608	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	2.30055828381296E-4	0.026
18	77893492	C	A	18	80135609	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.998496322921576	0.788
18	77893492	C	G	18	80135609	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.99989897535291	0.94
18	77893492	C	T	18	80135609	y	y	intronic	ADNP2	.	.	intronic	ENSG00000101544	.	.	0.0925975832815016	0.148
18	77893493	A	C	18	80135610	y	y	splicing	ADNP2(NM_014913:exon4:c.199-2A>C)	.	.	splicing	ENSG00000101544(ENST00000262198:exon4:c.199-2A>C;ENST00000560752:exon4:c.133-2A>C;ENST00000559951:exon4:c.199-2A>C;ENST00000560561:exon4:c.249-2A>C)	.	.	0.999988247793601	0.928
18	77893493	A	G	18	80135610	y	y	splicing	ADNP2(NM_014913:exon4:c.199-2A>G)	.	.	splicing	ENSG00000101544(ENST00000262198:exon4:c.199-2A>G;ENST00000560752:exon4:c.133-2A>G;ENST00000559951:exon4:c.199-2A>G;ENST00000560561:exon4:c.249-2A>G)	.	.	0.999988247793601	0.928
18	77893493	A	T	18	80135610	y	y	splicing	ADNP2(NM_014913:exon4:c.199-2A>T)	.	.	splicing	ENSG00000101544(ENST00000262198:exon4:c.199-2A>T;ENST00000560752:exon4:c.133-2A>T;ENST00000559951:exon4:c.199-2A>T;ENST00000560561:exon4:c.249-2A>T)	.	.	0.999988247793601	0.928
18	77893494	G	A	18	80135611	y	y	splicing	ADNP2(NM_014913:exon4:c.199-1G>A)	.	.	splicing	ENSG00000101544(ENST00000262198:exon4:c.199-1G>A;ENST00000560752:exon4:c.133-1G>A;ENST00000559951:exon4:c.199-1G>A;ENST00000560561:exon4:c.249-1G>A)	.	.	0.999990361384395	0.938
18	77893494	G	C	18	80135611	y	y	splicing	ADNP2(NM_014913:exon4:c.199-1G>C)	.	.	splicing	ENSG00000101544(ENST00000262198:exon4:c.199-1G>C;ENST00000560752:exon4:c.133-1G>C;ENST00000559951:exon4:c.199-1G>C;ENST00000560561:exon4:c.249-1G>C)	.	.	0.999990361384395	0.938
18	77893494	G	T	18	80135611	y	y	splicing	ADNP2(NM_014913:exon4:c.199-1G>T)	.	.	splicing	ENSG00000101544(ENST00000262198:exon4:c.199-1G>T;ENST00000560752:exon4:c.133-1G>T;ENST00000559951:exon4:c.199-1G>T;ENST00000560561:exon4:c.249-1G>T)	.	.	0.999990361384395	0.938
18	77893495	A	C	18	80135612	y	y	exonic	ADNP2	synonymous SNV	ADNP2:NM_014913:exon4:c.A199C:p.R67R;	exonic	ENSG00000101544	synonymous SNV	ENSG00000101544:ENST00000262198:exon4:c.A199C:p.R67R;ENSG00000101544:ENST00000559951:exon4:c.A199C:p.R67R;ENSG00000101544:ENST00000560752:exon4:c.A133C:p.R45R;	5.4039773425257E-4	0.022
18	77893495	A	G	18	80135612	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.A199G:p.R67G;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon4:c.A199G:p.R67G;ENSG00000101544:ENST00000559951:exon4:c.A199G:p.R67G;ENSG00000101544:ENST00000560752:exon4:c.A133G:p.R45G;	2.87598119704396E-4	0.022
18	77893495	A	T	18	80135612	y	y	exonic	ADNP2	stopgain SNV	ADNP2:NM_014913:exon4:c.A199T:p.R67X;	exonic	ENSG00000101544	stopgain SNV	ENSG00000101544:ENST00000262198:exon4:c.A199T:p.R67X;ENSG00000101544:ENST00000559951:exon4:c.A199T:p.R67X;ENSG00000101544:ENST00000560752:exon4:c.A133T:p.R45X;	0.012168310825508	0.242
18	77893496	G	A	18	80135613	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.G200A:p.R67K;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon4:c.G200A:p.R67K;ENSG00000101544:ENST00000559951:exon4:c.G200A:p.R67K;ENSG00000101544:ENST00000560752:exon4:c.G134A:p.R45K;	3.95356959202043E-4	0.042
18	77893496	G	C	18	80135613	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.G200C:p.R67T;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon4:c.G200C:p.R67T;ENSG00000101544:ENST00000559951:exon4:c.G200C:p.R67T;ENSG00000101544:ENST00000560752:exon4:c.G134C:p.R45T;	0.0588859950390103	0.304
18	77893496	G	T	18	80135613	y	y	exonic	ADNP2	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.G200T:p.R67I;	exonic	ENSG00000101544	nonsynonymous SNV	ENSG00000101544:ENST00000262198:exon4:c.G200T:p.R67I;ENSG00000101544:ENST00000559951:exon4:c.G200T:p.R67I;ENSG00000101544:ENST00000560752:exon4:c.G134T:p.R45I;	0.45807827059223	0.586
18	77918488	C	A	18	80160605	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon3:c.G297T:p.E99D;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000353265:exon3:c.G297T:p.E99D;	2.04327916805655E-5	0.0
18	77918488	C	G	18	80160605	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon3:c.G297C:p.E99D;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000353265:exon3:c.G297C:p.E99D;	3.80017278670847E-5	0.0
18	77918488	C	T	18	80160605	y	y	exonic	PARD6G	synonymous SNV	PARD6G:NM_032510:exon3:c.G297A:p.E99E;	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000353265:exon3:c.G297A:p.E99E;	6.34325043054819E-5	0.0
18	77918489	T	A	18	80160606	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon3:c.A296T:p.E99V;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000353265:exon3:c.A296T:p.E99V;	0.0986148727804052	0.404
18	77918489	T	C	18	80160606	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon3:c.A296G:p.E99G;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000353265:exon3:c.A296G:p.E99G;	3.92844874518555E-4	0.016
18	77918489	T	G	18	80160606	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon3:c.A296C:p.E99A;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000353265:exon3:c.A296C:p.E99A;	0.00698423745453738	0.11
18	77918490	C	A	18	80160607	y	y	splicing	PARD6G(NM_032510:exon4:c.296-1G>T)	.	.	splicing	ENSG00000178184(ENST00000353265:exon4:c.296-1G>T)	.	.	0.999960200702261	0.94
18	77918490	C	G	18	80160607	y	y	splicing	PARD6G(NM_032510:exon4:c.296-1G>C)	.	.	splicing	ENSG00000178184(ENST00000353265:exon4:c.296-1G>C)	.	.	0.999958812450268	0.926
18	77918490	C	T	18	80160607	y	y	splicing	PARD6G(NM_032510:exon4:c.296-1G>A)	.	.	splicing	ENSG00000178184(ENST00000353265:exon4:c.296-1G>A)	.	.	0.999960200702261	0.94
18	77918491	T	A	18	80160608	y	y	splicing	PARD6G(NM_032510:exon4:c.296-2A>T)	.	.	splicing	ENSG00000178184(ENST00000353265:exon4:c.296-2A>T)	.	.	0.999970104448312	0.886
18	77918491	T	C	18	80160608	y	y	splicing	PARD6G(NM_032510:exon4:c.296-2A>G)	.	.	splicing	ENSG00000178184(ENST00000353265:exon4:c.296-2A>G)	.	.	0.999982151912279	0.9
18	77918491	T	G	18	80160608	y	y	splicing	PARD6G(NM_032510:exon4:c.296-2A>C)	.	.	splicing	ENSG00000178184(ENST00000353265:exon4:c.296-2A>C)	.	.	0.999982151912279	0.9
18	77918492	G	A	18	80160609	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00276742848189835	0.174
18	77918492	G	C	18	80160609	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.999932903603865	0.94
18	77918492	G	T	18	80160609	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.980175815066307	0.828
18	77918493	C	A	18	80160610	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.1146192527723E-4	0.148
18	77918493	C	G	18	80160610	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.83563387057137E-5	0.006
18	77918493	C	T	18	80160610	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.1086180918425E-5	0.0
18	77918494	G	A	18	80160611	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.31898166359585E-5	0.006
18	77918494	G	C	18	80160611	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.0011263317753798	0.126
18	77918494	G	T	18	80160611	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.995864382400577	0.948
18	77918495	G	A	18	80160612	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.80717760014262E-5	0.008
18	77918495	G	C	18	80160612	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00149110183299304	0.094
18	77918495	G	T	18	80160612	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00183328108444124	0.16
18	77918496	G	A	18	80160613	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.82857814079446E-5	0.008
18	77918496	G	C	18	80160613	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.23350637507787E-4	0.05
18	77918496	G	T	18	80160613	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.46655230215435E-4	0.048
18	77918497	A	C	18	80160614	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00114356605811555	0.062
18	77918497	A	G	18	80160614	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	8.44783664500079E-6	0.002
18	77918497	A	T	18	80160614	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.6950290586105E-4	0.03
18	77918498	G	A	18	80160615	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	9.32269054637541E-5	0.0
18	77918498	G	C	18	80160615	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00336486989053812	0.054
18	77918498	G	T	18	80160615	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00278964194455133	0.052
18	77918499	A	C	18	80160616	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	8.66061252411975E-4	0.064
18	77918499	A	G	18	80160616	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.0529844123699E-5	0.004
18	77918499	A	T	18	80160616	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	6.17741528920192E-4	0.04
18	77918500	G	A	18	80160617	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.50990051006348E-4	0.0
18	77918500	G	C	18	80160617	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00108248188328561	0.06
18	77918500	G	T	18	80160617	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.0031642204369593	0.064
18	77918501	G	A	18	80160618	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.03150620259812E-4	0.0
18	77918501	G	C	18	80160618	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.63388452018964E-4	0.088
18	77918501	G	T	18	80160618	y	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	7.63172813029101E-4	0.07
18	77920387	C	A	18	80162504	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.38737725265557E-5	0.0
18	77920387	C	G	18	80162504	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.38737725265557E-5	0.0
18	77920387	C	T	18	80162504	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.38737725265557E-5	0.0
18	77920388	T	A	18	80162505	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.71486889510802E-5	0.01
18	77920388	T	C	18	80162505	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.58927937202005E-5	0.008
18	77920388	T	G	18	80162505	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.58927937202005E-5	0.008
18	77920389	T	A	18	80162506	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	6.4243997895107E-5	0.014
18	77920389	T	C	18	80162506	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.48367148474546E-5	0.008
18	77920389	T	G	18	80162506	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.48367148474546E-5	0.008
18	77920390	G	A	18	80162507	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.38737725265557E-5	0.0
18	77920390	G	C	18	80162507	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.38737725265557E-5	0.0
18	77920390	G	T	18	80162507	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.38737725265557E-5	0.0
18	77920391	T	A	18	80162508	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.57245582126943E-5	0.012
18	77920391	T	C	18	80162508	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.58927937202005E-5	0.01
18	77920391	T	G	18	80162508	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.58927937202005E-5	0.01
18	77920392	T	A	18	80162509	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77920392	T	C	18	80162509	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77920392	T	G	18	80162509	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77920393	T	A	18	80162510	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.57245582126943E-5	0.012
18	77920393	T	C	18	80162510	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.58927937202005E-5	0.008
18	77920393	T	G	18	80162510	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.58927937202005E-5	0.008
18	77920394	T	A	18	80162511	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.69884688945688E-4	0.03
18	77920394	T	C	18	80162511	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.27163650926202E-4	0.028
18	77920394	T	G	18	80162511	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.27163650926202E-4	0.028
18	77920395	A	C	18	80162512	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.48367148474546E-5	0.006
18	77920395	A	G	18	80162512	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.48367148474546E-5	0.006
18	77920395	A	T	18	80162512	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	6.4243997895107E-5	0.012
18	77920396	T	A	18	80162513	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	7.42544334184685E-5	0.016
18	77920396	T	C	18	80162513	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.71486889510802E-5	0.01
18	77920396	T	G	18	80162513	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.71486889510802E-5	0.01
18	77920397	A	C	18	80162514	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.332-2A>C)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.97-2A>C;ENST00000586421:exon2:c.97-2A>C)	.	.	1.48367148474546E-5	0.008
18	77920397	A	G	18	80162514	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.332-2A>G)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.97-2A>G;ENST00000586421:exon2:c.97-2A>G)	.	.	1.48367148474546E-5	0.008
18	77920397	A	T	18	80162514	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.332-2A>T)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.97-2A>T;ENST00000586421:exon2:c.97-2A>T)	.	.	6.4243997895107E-5	0.012
18	77920398	G	A	18	80162515	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.332-1G>A)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.97-1G>A;ENST00000586421:exon2:c.97-1G>A)	.	.	1.99153316237132E-5	0.002
18	77920398	G	C	18	80162515	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.332-1G>C)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.97-1G>C;ENST00000586421:exon2:c.97-1G>C)	.	.	1.99153316237132E-5	0.002
18	77920398	G	T	18	80162515	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.332-1G>T)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.97-1G>T;ENST00000586421:exon2:c.97-1G>T)	.	.	1.99153316237132E-5	0.002
18	77920399	A	C	18	80162516	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.A97C:p.K33Q;ENSG00000267270:ENST00000587254:exon2:c.A97C:p.K33Q;	9.57123356397867E-5	0.024
18	77920399	A	G	18	80162516	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.A97G:p.K33E;ENSG00000267270:ENST00000587254:exon2:c.A97G:p.K33E;	9.57123356397867E-5	0.024
18	77920399	A	T	18	80162516	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	stopgain SNV	ENSG00000267270:ENST00000586421:exon2:c.A97T:p.K33X;ENSG00000267270:ENST00000587254:exon2:c.A97T:p.K33X;	9.57123356397867E-5	0.026
18	77920400	A	C	18	80162517	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.A98C:p.K33T;ENSG00000267270:ENST00000587254:exon2:c.A98C:p.K33T;	1.99153316237132E-5	0.0
18	77920400	A	G	18	80162517	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.A98G:p.K33R;ENSG00000267270:ENST00000587254:exon2:c.A98G:p.K33R;	1.99153316237132E-5	0.0
18	77920400	A	T	18	80162517	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.A98T:p.K33I;ENSG00000267270:ENST00000587254:exon2:c.A98T:p.K33I;	3.07620641825897E-5	0.004
18	77920484	C	A	18	80162601	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.C182A:p.T61K;ENSG00000267270:ENST00000587254:exon2:c.C182A:p.T61K;	2.1036365348547E-5	0.006
18	77920484	C	G	18	80162601	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.C182G:p.T61R;ENSG00000267270:ENST00000587254:exon2:c.C182G:p.T61R;	2.1036365348547E-5	0.006
18	77920484	C	T	18	80162601	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.C182T:p.T61I;ENSG00000267270:ENST00000587254:exon2:c.C182T:p.T61I;	2.1036365348547E-5	0.006
18	77920485	A	C	18	80162602	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	synonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.A183C:p.T61T;ENSG00000267270:ENST00000587254:exon2:c.A183C:p.T61T;	2.27163650926202E-4	0.014
18	77920485	A	G	18	80162602	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	synonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.A183G:p.T61T;ENSG00000267270:ENST00000587254:exon2:c.A183G:p.T61T;	2.27163650926202E-4	0.014
18	77920485	A	T	18	80162602	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	synonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.A183T:p.T61T;ENSG00000267270:ENST00000587254:exon2:c.A183T:p.T61T;	2.27163650926202E-4	0.022
18	77920486	G	A	18	80162603	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.G184A:p.V62I;ENSG00000267270:ENST00000587254:exon2:c.G184A:p.G62S;	2.1036365348547E-5	0.006
18	77920486	G	C	18	80162603	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.G184C:p.V62L;ENSG00000267270:ENST00000587254:exon2:c.G184C:p.G62R;	2.1036365348547E-5	0.006
18	77920486	G	T	18	80162603	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon2:c.G184T:p.V62L;ENSG00000267270:ENST00000587254:exon2:c.G184T:p.G62C;	2.1036365348547E-5	0.006
18	77920487	G	A	18	80162604	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.419+1G>A)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.184+1G>A;ENST00000586421:exon2:c.184+1G>A)	.	.	3.07620641825897E-5	0.0
18	77920487	G	C	18	80162604	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.419+1G>C)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.184+1G>C;ENST00000586421:exon2:c.184+1G>C)	.	.	1.99153316237132E-5	0.0
18	77920487	G	T	18	80162604	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.419+1G>T)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.184+1G>T;ENST00000586421:exon2:c.184+1G>T)	.	.	1.99153316237132E-5	0.0
18	77920488	T	A	18	80162605	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.419+2T>A)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.184+2T>A;ENST00000586421:exon2:c.184+2T>A)	.	.	3.07620641825897E-5	0.0
18	77920488	T	C	18	80162605	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.419+2T>C)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.184+2T>C;ENST00000586421:exon2:c.184+2T>C)	.	.	3.07620641825897E-5	0.0
18	77920488	T	G	18	80162605	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon2:c.419+2T>G)	.	.	splicing	ENSG00000267270(ENST00000587254:exon2:c.184+2T>G;ENST00000586421:exon2:c.184+2T>G)	.	.	3.07620641825897E-5	0.0
18	77920489	G	A	18	80162606	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	9.57123356397867E-5	0.01
18	77920489	G	C	18	80162606	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	9.57123356397867E-5	0.01
18	77920489	G	T	18	80162606	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	9.57123356397867E-5	0.01
18	77920490	A	C	18	80162607	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.27163650926202E-4	0.014
18	77920490	A	G	18	80162607	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.27163650926202E-4	0.016
18	77920490	A	T	18	80162607	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.27163650926202E-4	0.018
18	77920491	G	A	18	80162608	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.1036365348547E-5	0.006
18	77920491	G	C	18	80162608	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.1036365348547E-5	0.006
18	77920491	G	T	18	80162608	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.1036365348547E-5	0.006
18	77920492	T	A	18	80162609	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.27163650926202E-4	0.018
18	77920492	T	C	18	80162609	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.27163650926202E-4	0.016
18	77920492	T	G	18	80162609	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.27163650926202E-4	0.016
18	77920493	G	A	18	80162610	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.022
18	77920493	G	C	18	80162610	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.99153316237132E-5	0.0
18	77920493	G	T	18	80162610	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.99153316237132E-5	0.0
18	77920494	G	A	18	80162611	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77920494	G	C	18	80162611	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.99153316237132E-5	0.0
18	77920494	G	T	18	80162611	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.99153316237132E-5	0.0
18	77926690	T	A	18	80168807	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.0012338591716885	0.022
18	77926690	T	C	18	80168807	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.0012338591716885	0.006
18	77926690	T	G	18	80168807	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.0012338591716885	0.006
18	77926691	C	A	18	80168808	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.69930370103191E-5	0.0
18	77926691	C	G	18	80168808	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.69930370103191E-5	0.0
18	77926691	C	T	18	80168808	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.69930370103191E-5	0.0
18	77926692	T	A	18	80168809	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	7.84426259441964E-4	0.002
18	77926692	T	C	18	80168809	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	6.12261273777789E-4	0.002
18	77926692	T	G	18	80168809	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	6.12261273777789E-4	0.002
18	77926693	A	C	18	80168810	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.54404724015672E-5	0.0
18	77926693	A	G	18	80168810	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.54404724015672E-5	0.0
18	77926693	A	T	18	80168810	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.54404724015672E-5	0.0
18	77926694	T	A	18	80168811	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	7.84426259441964E-4	0.0
18	77926694	T	C	18	80168811	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	6.12261273777789E-4	0.0
18	77926694	T	G	18	80168811	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	6.12261273777789E-4	0.0
18	77926695	T	A	18	80168812	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	6.12261273777789E-4	0.0
18	77926695	T	C	18	80168812	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.85159348457159E-4	0.0
18	77926695	T	G	18	80168812	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.85159348457159E-4	0.0
18	77926696	T	A	18	80168813	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.85159348457159E-4	0.0
18	77926696	T	C	18	80168813	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.85159348457159E-4	0.0
18	77926696	T	G	18	80168813	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.85159348457159E-4	0.0
18	77926697	T	A	18	80168814	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.3994564522384E-5	0.01
18	77926697	T	C	18	80168814	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.3994564522384E-5	0.008
18	77926697	T	G	18	80168814	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.3994564522384E-5	0.008
18	77926698	G	A	18	80168815	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77926698	G	C	18	80168815	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77926698	G	T	18	80168815	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77926699	A	C	18	80168816	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	5.50552619103442E-5	0.006
18	77926699	A	G	18	80168816	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	5.50552619103442E-5	0.006
18	77926699	A	T	18	80168816	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	5.50552619103442E-5	0.008
18	77926700	A	C	18	80168817	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon3:c.420-2A>C)	.	.	splicing	ENSG00000267270(ENST00000586421:exon3:c.185-2A>C;ENST00000585422:exon2:c.97-2A>C)	.	.	3.80465223468383E-5	0.0
18	77926700	A	G	18	80168817	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon3:c.420-2A>G)	.	.	splicing	ENSG00000267270(ENST00000586421:exon3:c.185-2A>G;ENST00000585422:exon2:c.97-2A>G)	.	.	3.80465223468383E-5	0.0
18	77926700	A	T	18	80168817	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon3:c.420-2A>T)	.	.	splicing	ENSG00000267270(ENST00000586421:exon3:c.185-2A>T;ENST00000585422:exon2:c.97-2A>T)	.	.	3.80465223468383E-5	0.0
18	77926701	G	A	18	80168818	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon3:c.420-1G>A)	.	.	splicing	ENSG00000267270(ENST00000586421:exon3:c.185-1G>A;ENST00000585422:exon2:c.97-1G>A)	.	.	3.06651109346937E-5	0.004
18	77926701	G	C	18	80168818	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon3:c.420-1G>C)	.	.	splicing	ENSG00000267270(ENST00000586421:exon3:c.185-1G>C;ENST00000585422:exon2:c.97-1G>C)	.	.	2.84193600056129E-5	0.0
18	77926701	G	T	18	80168818	n	y	ncRNA_splicing	PARD6G-AS1(NR_028339:exon3:c.420-1G>T)	.	.	splicing	ENSG00000267270(ENST00000586421:exon3:c.185-1G>T;ENST00000585422:exon2:c.97-1G>T)	.	.	3.06651109346937E-5	0.0
18	77926702	T	A	18	80168819	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon3:c.T185A:p.V62E;ENSG00000267270:ENST00000585422:exon2:c.T97A:p.Y33N;	5.50552619103442E-5	0.006
18	77926702	T	C	18	80168819	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon3:c.T185C:p.V62A;ENSG00000267270:ENST00000585422:exon2:c.T97C:p.Y33H;	5.50552619103442E-5	0.006
18	77926702	T	G	18	80168819	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000586421:exon3:c.T185G:p.V62G;ENSG00000267270:ENST00000585422:exon2:c.T97G:p.Y33D;	5.50552619103442E-5	0.008
18	77926703	A	C	18	80168820	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000585422:exon2:c.A98C:p.Y33S;	1.48367148474546E-5	0.0
18	77926703	A	G	18	80168820	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000585422:exon2:c.A98G:p.Y33C;	1.48367148474546E-5	0.0
18	77926703	A	T	18	80168820	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000585422:exon2:c.A98T:p.Y33F;	3.52173701430229E-5	0.006
18	77926889	C	A	18	80169006	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	6.40148198700121E-5	0.008
18	77926889	C	G	18	80169006	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.69692329001126E-5	0.002
18	77926889	C	T	18	80169006	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	6.40148198700121E-5	0.006
18	77926890	C	A	18	80169007	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.77346097862455E-4	0.08
18	77926890	C	G	18	80169007	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.77346097862455E-4	0.046
18	77926890	C	T	18	80169007	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.77346097862455E-4	0.068
18	77926891	T	A	18	80169008	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	3.31929338280547E-5	0.0
18	77926891	T	C	18	80169008	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77926891	T	G	18	80169008	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77926892	C	A	18	80169009	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	8.67406312561927E-6	0.008
18	77926892	C	G	18	80169009	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	8.67406312561927E-6	0.004
18	77926892	C	T	18	80169009	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.33984070840462E-5	0.0
18	77926893	T	A	18	80169010	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77926893	T	C	18	80169010	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77926893	T	G	18	80169010	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77926894	T	A	18	80169011	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.11203329754734E-5	0.002
18	77926894	T	C	18	80169011	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77926894	T	G	18	80169011	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77926895	C	A	18	80169012	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.45277156108894E-5	0.002
18	77926895	C	G	18	80169012	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.45277156108894E-5	0.002
18	77926895	C	T	18	80169012	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.45277156108894E-5	0.002
18	77926896	C	A	18	80169013	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.38183787611534E-5	0.004
18	77926896	C	G	18	80169013	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.38183787611534E-5	0.0
18	77926896	C	T	18	80169013	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	5.65361214020652E-5	0.006
18	77926897	A	C	18	80169014	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.45277156108894E-5	0.002
18	77926897	A	G	18	80169014	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	2.45277156108894E-5	0.002
18	77926897	A	T	18	80169014	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	3.78864525412067E-5	0.002
18	77926898	A	C	18	80169015	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	3.78864525412067E-5	0.0
18	77926898	A	G	18	80169015	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	3.78864525412067E-5	0.0
18	77926898	A	T	18	80169015	n	y	ncRNA_exonic	PARD6G-AS1	.	.	UTR3	ENSG00000267270	.	.	3.78864525412067E-5	0.0
18	77926899	A	C	18	80169016	n	y	ncRNA_exonic	PARD6G-AS1	.	.	splicing	ENSG00000267270(ENST00000587254:exon3:c.185-2A>C)	.	.	4.57607375837078E-5	0.006
18	77926899	A	G	18	80169016	n	y	ncRNA_exonic	PARD6G-AS1	.	.	splicing	ENSG00000267270(ENST00000587254:exon3:c.185-2A>G)	.	.	4.57607375837078E-5	0.006
18	77926899	A	T	18	80169016	n	y	ncRNA_exonic	PARD6G-AS1	.	.	splicing	ENSG00000267270(ENST00000587254:exon3:c.185-2A>T)	.	.	3.42206730061288E-5	0.008
18	77926900	G	A	18	80169017	n	y	ncRNA_exonic	PARD6G-AS1	.	.	splicing	ENSG00000267270(ENST00000587254:exon3:c.185-1G>A)	.	.	1.77346097862455E-4	0.108
18	77926900	G	C	18	80169017	n	y	ncRNA_exonic	PARD6G-AS1	.	.	splicing	ENSG00000267270(ENST00000587254:exon3:c.185-1G>C)	.	.	1.77346097862455E-4	0.048
18	77926900	G	T	18	80169017	n	y	ncRNA_exonic	PARD6G-AS1	.	.	splicing	ENSG00000267270(ENST00000587254:exon3:c.185-1G>T)	.	.	1.77346097862455E-4	0.064
18	77926901	G	A	18	80169018	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000587254:exon3:c.G185A:p.G62D;	1.08788427788342E-5	0.0
18	77926901	G	C	18	80169018	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000587254:exon3:c.G185C:p.G62A;	1.08788427788342E-5	0.0
18	77926901	G	T	18	80169018	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000587254:exon3:c.G185T:p.G62V;	1.08788427788342E-5	0.0
18	77926902	T	A	18	80169019	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	synonymous SNV	ENSG00000267270:ENST00000587254:exon3:c.T186A:p.G62G;	1.88014054966508E-5	0.0
18	77926902	T	C	18	80169019	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	synonymous SNV	ENSG00000267270:ENST00000587254:exon3:c.T186C:p.G62G;	1.88014054966508E-5	0.0
18	77926902	T	G	18	80169019	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	synonymous SNV	ENSG00000267270:ENST00000587254:exon3:c.T186G:p.G62G;	1.88014054966508E-5	0.0
18	77933751	G	A	18	80175868	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.05546306797605E-4	0.08
18	77933751	G	C	18	80175868	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.05546306797605E-4	0.038
18	77933751	G	T	18	80175868	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.05546306797605E-4	0.046
18	77933752	A	C	18	80175869	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.57607375837078E-5	0.008
18	77933752	A	G	18	80175869	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	4.57607375837078E-5	0.006
18	77933752	A	T	18	80175869	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.42206730061288E-5	0.0
18	77933753	A	C	18	80175870	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.5504966642727E-5	0.012
18	77933753	A	G	18	80175870	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.5504966642727E-5	0.008
18	77933753	A	T	18	80175870	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.5504966642727E-5	0.008
18	77933754	A	C	18	80175871	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.95735775412773E-5	0.0
18	77933754	A	G	18	80175871	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.95735775412773E-5	0.0
18	77933754	A	T	18	80175871	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.11203329754734E-5	0.0
18	77933755	T	A	18	80175872	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.13503796622452E-5	0.008
18	77933755	T	C	18	80175872	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.13503796622452E-5	0.008
18	77933755	T	G	18	80175872	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.13503796622452E-5	0.008
18	77933756	T	A	18	80175873	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77933756	T	C	18	80175873	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77933756	T	G	18	80175873	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77933757	C	A	18	80175874	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.37501361942679E-5	0.002
18	77933757	C	G	18	80175874	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.37501361942679E-5	0.002
18	77933757	C	T	18	80175874	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.37501361942679E-5	0.002
18	77933758	T	A	18	80175875	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.11203329754734E-5	0.002
18	77933758	T	C	18	80175875	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77933758	T	G	18	80175875	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77933759	G	A	18	80175876	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.95735775412773E-5	0.002
18	77933759	G	C	18	80175876	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.26718658278921E-5	0.004
18	77933759	G	T	18	80175876	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.26718658278921E-5	0.018
18	77933760	C	A	18	80175877	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.02885091851015E-4	0.048
18	77933760	C	G	18	80175877	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.02885091851015E-4	0.048
18	77933760	C	T	18	80175877	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.02885091851015E-4	0.046
18	77933761	A	C	18	80175878	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.332-2A>C)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.97-2A>C)	.	.	3.18514214212084E-4	0.082
18	77933761	A	G	18	80175878	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.332-2A>G)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.97-2A>G)	.	.	3.18514214212084E-4	0.082
18	77933761	A	T	18	80175878	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.332-2A>T)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.97-2A>T)	.	.	3.18514214212084E-4	0.116
18	77933762	G	A	18	80175879	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.332-1G>A)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.97-1G>A)	.	.	2.02885091851015E-4	0.048
18	77933762	G	C	18	80175879	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.332-1G>C)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.97-1G>C)	.	.	2.02885091851015E-4	0.048
18	77933762	G	T	18	80175879	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.332-1G>T)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.97-1G>T)	.	.	2.02885091851015E-4	0.048
18	77933763	G	A	18	80175880	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.G97A:p.V33M;	3.07620641825897E-5	0.004
18	77933763	G	C	18	80175880	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.G97C:p.V33L;	1.99153316237132E-5	0.0
18	77933763	G	T	18	80175880	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.G97T:p.V33L;	1.99153316237132E-5	0.0
18	77933764	T	A	18	80175881	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.T98A:p.V33E;	3.78864525412067E-5	0.0
18	77933764	T	C	18	80175881	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.T98C:p.V33A;	2.45277156108894E-5	0.0
18	77933764	T	G	18	80175881	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.T98G:p.V33G;	2.45277156108894E-5	0.0
18	77933816	G	A	18	80175933	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	stopgain SNV	ENSG00000267270:ENST00000589574:exon2:c.G150A:p.W50X;	0.00156982018578896	0.002
18	77933816	G	C	18	80175933	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.G150C:p.W50C;	0.00122103863073255	0.0
18	77933816	G	T	18	80175933	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.G150T:p.W50C;	0.00156982018578896	0.006
18	77933817	A	C	18	80175934	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	synonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.A151C:p.R51R;	8.75207953111884E-5	0.0
18	77933817	A	G	18	80175934	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.A151G:p.R51G;	8.75207953111884E-5	0.0
18	77933817	A	T	18	80175934	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	stopgain SNV	ENSG00000267270:ENST00000589574:exon2:c.A151T:p.R51X;	7.9399606226418E-5	0.0
18	77933818	G	A	18	80175935	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.G152A:p.R51K;	1.5982790009972E-4	0.0
18	77933818	G	C	18	80175935	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.G152C:p.R51T;	2.33698758487849E-4	0.012
18	77933818	G	T	18	80175935	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon2:c.G152T:p.R51I;	2.33698758487849E-4	0.032
18	77933819	G	A	18	80175936	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.387+1G>A)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.152+1G>A)	.	.	1.84562490119969E-4	0.058
18	77933819	G	C	18	80175936	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.387+1G>C)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.152+1G>C)	.	.	1.84562490119969E-4	0.03
18	77933819	G	T	18	80175936	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.387+1G>T)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.152+1G>T)	.	.	1.84562490119969E-4	0.018
18	77933820	T	A	18	80175937	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.387+2T>A)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.152+2T>A)	.	.	7.9399606226418E-5	0.0
18	77933820	T	C	18	80175937	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.387+2T>C)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.152+2T>C)	.	.	8.75207953111884E-5	0.002
18	77933820	T	G	18	80175937	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon2:c.387+2T>G)	.	.	splicing	ENSG00000267270(ENST00000589574:exon2:c.152+2T>G)	.	.	8.75207953111884E-5	0.004
18	77933821	G	A	18	80175938	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.0014243500876533	0.0
18	77933821	G	C	18	80175938	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00156982018578896	0.004
18	77933821	G	T	18	80175938	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.0014243500876533	0.0
18	77933822	A	C	18	80175939	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	7.9399606226418E-5	0.0
18	77933822	A	G	18	80175939	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	7.9399606226418E-5	0.0
18	77933822	A	T	18	80175939	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.26956592469941E-4	0.0
18	77933823	G	A	18	80175940	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.16080636402324E-4	0.014
18	77933823	G	C	18	80175940	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.16080636402324E-4	0.0
18	77933823	G	T	18	80175940	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.16080636402324E-4	0.0
18	77933824	T	A	18	80175941	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00123738203438252	0.01
18	77933824	T	C	18	80175941	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00123738203438252	0.014
18	77933824	T	G	18	80175941	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00123738203438252	0.012
18	77933825	G	A	18	80175942	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.26221367910918E-4	0.008
18	77933825	G	C	18	80175942	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.84562490119969E-4	0.026
18	77933825	G	T	18	80175942	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.26221367910918E-4	0.006
18	77933826	C	A	18	80175943	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00657228777154543	0.088
18	77933826	C	G	18	80175943	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00657228777154543	0.05
18	77933826	C	T	18	80175943	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	0.00657228777154543	0.09
18	77935957	T	A	18	80178074	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77935957	T	C	18	80178074	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.99153316237132E-5	0.0
18	77935957	T	G	18	80178074	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.99153316237132E-5	0.0
18	77935958	G	A	18	80178075	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.4631346304159E-5	0.0
18	77935958	G	C	18	80178075	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.4631346304159E-5	0.0
18	77935958	G	T	18	80178075	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.4631346304159E-5	0.0
18	77935959	A	C	18	80178076	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.45277156108894E-5	0.0
18	77935959	A	G	18	80178076	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.45277156108894E-5	0.0
18	77935959	A	T	18	80178076	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.45277156108894E-5	0.0
18	77935960	T	A	18	80178077	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.002
18	77935960	T	C	18	80178077	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.002
18	77935960	T	G	18	80178077	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.002
18	77935961	T	A	18	80178078	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.27145488438373E-5	0.004
18	77935961	T	C	18	80178078	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.17833868802641E-5	0.0
18	77935961	T	G	18	80178078	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.17833868802641E-5	0.0
18	77935962	C	A	18	80178079	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.99153316237132E-5	0.0
18	77935962	C	G	18	80178079	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.99153316237132E-5	0.0
18	77935962	C	T	18	80178079	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.07620641825897E-5	0.0
18	77935963	T	A	18	80178080	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	8.90560767920444E-5	0.122
18	77935963	T	C	18	80178080	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	8.90560767920444E-5	0.09
18	77935963	T	G	18	80178080	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	8.90560767920444E-5	0.09
18	77935964	T	A	18	80178081	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.30338091304305E-5	0.002
18	77935964	T	C	18	80178081	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.30338091304305E-5	0.002
18	77935964	T	G	18	80178081	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.30338091304305E-5	0.002
18	77935965	G	A	18	80178082	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.97537460270323E-5	0.0
18	77935965	G	C	18	80178082	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	2.57366196524781E-5	0.0
18	77935965	G	T	18	80178082	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	3.97537460270323E-5	0.02
18	77935966	C	A	18	80178083	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.98547883987524E-5	0.0
18	77935966	C	G	18	80178083	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.98547883987524E-5	0.0
18	77935966	C	T	18	80178083	n	y	ncRNA_intronic	PARD6G-AS1	.	.	intronic	ENSG00000178184;ENSG00000267270	.	.	1.98547883987524E-5	0.0
18	77935967	A	C	18	80178084	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon3:c.388-2A>C)	.	.	splicing	ENSG00000267270(ENST00000589574:exon3:c.153-2A>C)	.	.	1.17833868802641E-5	0.0
18	77935967	A	G	18	80178084	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon3:c.388-2A>G)	.	.	splicing	ENSG00000267270(ENST00000589574:exon3:c.153-2A>G)	.	.	1.17833868802641E-5	0.0
18	77935967	A	T	18	80178084	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon3:c.388-2A>T)	.	.	splicing	ENSG00000267270(ENST00000589574:exon3:c.153-2A>T)	.	.	1.27145488438373E-5	0.004
18	77935968	G	A	18	80178085	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon3:c.388-1G>A)	.	.	splicing	ENSG00000267270(ENST00000589574:exon3:c.153-1G>A)	.	.	2.61707993540616E-5	0.0
18	77935968	G	C	18	80178085	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon3:c.388-1G>C)	.	.	splicing	ENSG00000267270(ENST00000589574:exon3:c.153-1G>C)	.	.	2.61707993540616E-5	0.0
18	77935968	G	T	18	80178085	n	y	ncRNA_splicing	PARD6G-AS1(NR_028340:exon3:c.388-1G>T)	.	.	splicing	ENSG00000267270(ENST00000589574:exon3:c.153-1G>T)	.	.	2.61707993540616E-5	0.0
18	77935969	A	C	18	80178086	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon3:c.A153C:p.R51S;	3.80465223468383E-5	0.004
18	77935969	A	G	18	80178086	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	synonymous SNV	ENSG00000267270:ENST00000589574:exon3:c.A153G:p.R51R;	3.80465223468383E-5	0.004
18	77935969	A	T	18	80178086	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon3:c.A153T:p.R51S;	3.80465223468383E-5	0.004
18	77935970	T	A	18	80178087	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon3:c.T154A:p.Y52N;	1.36195737818257E-5	0.0
18	77935970	T	C	18	80178087	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon3:c.T154C:p.Y52H;	1.36195737818257E-5	0.0
18	77935970	T	G	18	80178087	n	y	ncRNA_exonic	PARD6G-AS1	.	.	exonic	ENSG00000267270	nonsynonymous SNV	ENSG00000267270:ENST00000589574:exon3:c.T154G:p.Y52D;	1.36195737818257E-5	0.0
18	77941032	A	C	18	80183149	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon3:c.T297G:p.D99E;	2.45277156108894E-5	0.0
18	77941032	A	G	18	80183149	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000470488:exon3:c.T297C:p.D99D;	2.45277156108894E-5	0.0
18	77941032	A	T	18	80183149	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon3:c.T297A:p.D99E;	3.78864525412067E-5	0.0
18	77941033	T	A	18	80183150	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon3:c.A296T:p.D99V;	6.89925739660516E-5	0.006
18	77941033	T	C	18	80183150	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon3:c.A296G:p.D99G;	6.89925739660516E-5	0.004
18	77941033	T	G	18	80183150	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon3:c.A296C:p.D99A;	6.89925739660516E-5	0.004
18	77941034	C	A	18	80183151	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000470488:exon4:c.296-1G>T;ENST00000463384:exon4:c.228-1G>T)	.	.	6.38118228050303E-4	0.022
18	77941034	C	G	18	80183151	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000470488:exon4:c.296-1G>C;ENST00000463384:exon4:c.228-1G>C)	.	.	6.38118228050303E-4	0.022
18	77941034	C	T	18	80183151	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000470488:exon4:c.296-1G>A;ENST00000463384:exon4:c.228-1G>A)	.	.	6.38118228050303E-4	0.022
18	77941035	T	A	18	80183152	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000470488:exon4:c.296-2A>T;ENST00000463384:exon4:c.228-2A>T)	.	.	4.82978878337434E-5	0.0
18	77941035	T	C	18	80183152	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000470488:exon4:c.296-2A>G;ENST00000463384:exon4:c.228-2A>G)	.	.	2.65728917399903E-5	0.0
18	77941035	T	G	18	80183152	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000470488:exon4:c.296-2A>C;ENST00000463384:exon4:c.228-2A>C)	.	.	2.65728917399903E-5	0.0
18	77941036	G	A	18	80183153	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.86431456331734E-5	0.002
18	77941036	G	C	18	80183153	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.86431456331734E-5	0.002
18	77941036	G	T	18	80183153	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.86431456331734E-5	0.002
18	77941037	C	A	18	80183154	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.45277156108894E-5	0.002
18	77941037	C	G	18	80183154	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.45277156108894E-5	0.002
18	77941037	C	T	18	80183154	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.45277156108894E-5	0.002
18	77941038	A	C	18	80183155	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.95241758590049E-5	0.0
18	77941038	A	G	18	80183155	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.95241758590049E-5	0.0
18	77941038	A	T	18	80183155	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.95241758590049E-5	0.0
18	77941039	G	A	18	80183156	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	6.270921211638E-5	0.014
18	77941039	G	C	18	80183156	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.64191646885158E-5	0.014
18	77941039	G	T	18	80183156	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.64191646885158E-5	0.014
18	77941040	G	A	18	80183157	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.07620641825897E-5	0.0
18	77941040	G	C	18	80183157	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.99153316237132E-5	0.0
18	77941040	G	T	18	80183157	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.07620641825897E-5	0.0
18	77941041	A	C	18	80183158	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.49701211621195E-5	0.0
18	77941041	A	G	18	80183158	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.49701211621195E-5	0.0
18	77941041	A	T	18	80183158	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.55340253457474E-5	0.008
18	77941042	A	C	18	80183159	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.11861873827073E-5	0.006
18	77941042	A	G	18	80183159	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.11861873827073E-5	0.004
18	77941042	A	T	18	80183159	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.55340253457474E-5	0.006
18	77941043	A	C	18	80183160	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.55340253457474E-5	0.008
18	77941043	A	G	18	80183160	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.55340253457474E-5	0.008
18	77941043	A	T	18	80183160	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	3.55340253457474E-5	0.008
18	77941044	A	C	18	80183161	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.68219155180855E-5	0.0
18	77941044	A	G	18	80183161	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.68219155180855E-5	0.0
18	77941044	A	T	18	80183161	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.68219155180855E-5	0.0
18	77941045	T	A	18	80183162	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.60356957576445E-5	0.0
18	77941045	T	C	18	80183162	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.60356957576445E-5	0.0
18	77941045	T	G	18	80183162	n	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.60356957576445E-5	0.0
18	77959839	A	C	18	80201956	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.97864243205666E-5	0.0
18	77959839	A	G	18	80201956	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.97864243205666E-5	0.0
18	77959839	A	T	18	80201956	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.97864243205666E-5	0.0
18	77959840	A	C	18	80201957	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.67738868662274E-5	0.004
18	77959840	A	G	18	80201957	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.08593451297961E-5	0.004
18	77959840	A	T	18	80201957	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.67738868662274E-5	0.004
18	77959841	C	A	18	80201958	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.61707993540616E-5	0.0
18	77959841	C	G	18	80201958	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.61707993540616E-5	0.0
18	77959841	C	T	18	80201958	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.61707993540616E-5	0.0
18	77959842	C	A	18	80201959	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.42005417025298E-5	0.0
18	77959842	C	G	18	80201959	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.42005417025298E-5	0.0
18	77959842	C	T	18	80201959	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.42005417025298E-5	0.0
18	77959843	T	A	18	80201960	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.57607375837078E-5	0.006
18	77959843	T	C	18	80201960	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.92786444512075E-5	0.002
18	77959843	T	G	18	80201960	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.92786444512075E-5	0.002
18	77959844	C	A	18	80201961	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.22319008290309E-5	0.0
18	77959844	C	G	18	80201961	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.22319008290309E-5	0.0
18	77959844	C	T	18	80201961	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.22319008290309E-5	0.0
18	77959845	A	C	18	80201962	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.227+2T>G)	.	.	3.78864525412067E-5	0.004
18	77959845	A	G	18	80201962	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.227+2T>C)	.	.	3.78864525412067E-5	0.004
18	77959845	A	T	18	80201962	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.227+2T>A)	.	.	3.78864525412067E-5	0.002
18	77959846	C	A	18	80201963	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.227+1G>T)	.	.	4.68952365742707E-5	0.01
18	77959846	C	G	18	80201963	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.227+1G>C)	.	.	4.68952365742707E-5	0.008
18	77959846	C	T	18	80201963	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.227+1G>A)	.	.	4.68952365742707E-5	0.006
18	77959847	C	A	18	80201964	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	8.53292460361593E-5	0.008
18	77959847	C	G	18	80201964	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	8.53292460361593E-5	0.008
18	77959847	C	T	18	80201964	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	8.53292460361593E-5	0.01
18	77959848	T	A	18	80201965	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	8.07028132666917E-5	0.008
18	77959848	T	C	18	80201965	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	5.10250552304391E-5	0.0
18	77959848	T	G	18	80201965	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	5.50570520811733E-5	0.0
18	77959849	T	A	18	80201966	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	1.05089878083976E-4	0.046
18	77959849	T	C	18	80201966	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	4.6857887130806E-5	0.034
18	77959849	T	G	18	80201966	n	y	intronic	PARD6G	.	.	ncRNA_UTR3	ENSG00000178184	.	.	5.05606112543448E-5	0.034
18	77959900	A	C	18	80202017	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000463384:exon2:c.T174G:p.G58G;	1.8057869992506E-5	0.004
18	77959900	A	G	18	80202017	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000463384:exon2:c.T174C:p.G58G;	1.8057869992506E-5	0.004
18	77959900	A	T	18	80202017	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000463384:exon2:c.T174A:p.G58G;	2.78929785447708E-5	0.004
18	77959901	C	A	18	80202018	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000463384:exon2:c.G173T:p.G58V;	2.45277156108894E-5	0.0
18	77959901	C	G	18	80202018	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000463384:exon2:c.G173C:p.G58A;	2.45277156108894E-5	0.0
18	77959901	C	T	18	80202018	n	y	intronic	PARD6G	.	.	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000463384:exon2:c.G173A:p.G58D;	2.45277156108894E-5	0.0
18	77959902	C	A	18	80202019	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.173-1G>T)	.	.	1.94405013182015E-5	0.0
18	77959902	C	G	18	80202019	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.173-1G>C)	.	.	1.94405013182015E-5	0.0
18	77959902	C	T	18	80202019	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.173-1G>A)	.	.	1.94405013182015E-5	0.0
18	77959903	T	A	18	80202020	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.173-2A>T)	.	.	1.8057869992506E-5	0.006
18	77959903	T	C	18	80202020	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.173-2A>G)	.	.	1.8057869992506E-5	0.006
18	77959903	T	G	18	80202020	n	y	intronic	PARD6G	.	.	splicing	ENSG00000178184(ENST00000463384:exon3:c.173-2A>C)	.	.	1.8057869992506E-5	0.006
18	77959904	G	A	18	80202021	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.39429174022201E-5	0.0
18	77959904	G	C	18	80202021	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.39429174022201E-5	0.0
18	77959904	G	T	18	80202021	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.39429174022201E-5	0.0
18	77959905	C	A	18	80202022	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.29086443542005E-5	0.0
18	77959905	C	G	18	80202022	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.29086443542005E-5	0.0
18	77959905	C	T	18	80202022	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.62993125928192E-5	0.0
18	77959906	A	C	18	80202023	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	8.12073509907113E-6	0.002
18	77959906	A	G	18	80202023	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	8.12073509907113E-6	0.002
18	77959906	A	T	18	80202023	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	8.12073509907113E-6	0.006
18	77959907	C	A	18	80202024	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.79815302939872E-5	0.0
18	77959907	C	G	18	80202024	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.79815302939872E-5	0.0
18	77959907	C	T	18	80202024	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.09828708177445E-5	0.0
18	77959908	C	A	18	80202025	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.30338091304305E-5	0.002
18	77959908	C	G	18	80202025	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.30338091304305E-5	0.002
18	77959908	C	T	18	80202025	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.30338091304305E-5	0.002
18	77959909	G	A	18	80202026	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.39429174022201E-5	0.002
18	77959909	G	C	18	80202026	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.39429174022201E-5	0.002
18	77959909	G	T	18	80202026	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	2.39429174022201E-5	0.002
18	77959910	T	A	18	80202027	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.42005417025298E-5	0.0
18	77959910	T	C	18	80202027	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.42005417025298E-5	0.0
18	77959910	T	G	18	80202027	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	1.42005417025298E-5	0.0
18	77959911	G	A	18	80202028	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.30338091304305E-5	0.0
18	77959911	G	C	18	80202028	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.14925918411906E-5	0.014
18	77959911	G	T	18	80202028	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.30338091304305E-5	0.0
18	77959912	G	A	18	80202029	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.00072023146173E-5	0.008
18	77959912	G	C	18	80202029	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.00072023146173E-5	0.008
18	77959912	G	T	18	80202029	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	4.00072023146173E-5	0.008
18	77959913	G	A	18	80202030	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.79815302939872E-5	0.0
18	77959913	G	C	18	80202030	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.79815302939872E-5	0.018
18	77959913	G	T	18	80202030	n	y	intronic	PARD6G	.	.	ncRNA_intronic	ENSG00000267251	.	.	3.79815302939872E-5	0.002
18	77960585	T	A	18	80202702	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	3.33254994369662E-5	0.0
18	77960585	T	C	18	80202702	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	3.33254994369662E-5	0.006
18	77960585	T	G	18	80202702	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	2.39122778928903E-5	0.002
18	77960586	T	A	18	80202703	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	2.98242630090487E-5	0.0
18	77960586	T	C	18	80202703	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	2.98242630090487E-5	0.002
18	77960586	T	G	18	80202703	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	2.58338233760366E-5	0.0
18	77960587	C	A	18	80202704	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	1.05753433461087E-5	0.024
18	77960587	C	G	18	80202704	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	5.08245459959367E-5	0.048
18	77960587	C	T	18	80202704	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	9.25870465142212E-5	0.114
18	77960588	A	C	18	80202705	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	3.32670768941624E-5	0.002
18	77960588	A	G	18	80202705	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	8.27181811042583E-6	0.002
18	77960588	A	T	18	80202705	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	4.73088213152915E-5	0.034
18	77960589	G	A	18	80202706	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	8.92957547929017E-4	0.16
18	77960589	G	C	18	80202706	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.00379792223234284	0.468
18	77960589	G	T	18	80202706	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	9.32894514877706E-6	0.092
18	77960590	T	A	18	80202707	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999958383385321	0.914
18	77960590	T	C	18	80202707	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999486366974921	0.946
18	77960590	T	G	18	80202707	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999963839222902	0.964
18	77960591	A	C	18	80202708	y	n	splicing	PARD6G(NM_032510:exon3:c.295+2T>G)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999988247793601	0.954
18	77960591	A	G	18	80202708	y	n	splicing	PARD6G(NM_032510:exon3:c.295+2T>C)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.994669226766359	0.68
18	77960591	A	T	18	80202708	y	n	splicing	PARD6G(NM_032510:exon3:c.295+2T>A)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999988247793601	0.954
18	77960592	C	A	18	80202709	y	n	splicing	PARD6G(NM_032510:exon3:c.295+1G>T)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999990361384395	0.952
18	77960592	C	G	18	80202709	y	n	splicing	PARD6G(NM_032510:exon3:c.295+1G>C)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999990361384395	0.952
18	77960592	C	T	18	80202709	y	n	splicing	PARD6G(NM_032510:exon3:c.295+1G>A)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999990361384395	0.952
18	77960593	C	A	18	80202710	y	n	exonic	PARD6G	stopgain SNV	PARD6G:NM_032510:exon2:c.G295T:p.E99X;	exonic	ENSG00000178184	stopgain SNV	ENSG00000178184:ENST00000353265:exon2:c.G295T:p.E99X;	0.999994342005323	0.902
18	77960593	C	G	18	80202710	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.G295C:p.E99Q;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000463384:exon1:c.G172C:p.G58R;ENSG00000178184:ENST00000470488:exon2:c.G295C:p.D99H;ENSG00000178184:ENST00000353265:exon2:c.G295C:p.E99Q;	0.999997038325368	1.0
18	77960593	C	T	18	80202710	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.G295A:p.E99K;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000463384:exon1:c.G172A:p.G58S;ENSG00000178184:ENST00000470488:exon2:c.G295A:p.D99N;ENSG00000178184:ENST00000353265:exon2:c.G295A:p.E99K;	0.999994233162681	0.996
18	77960594	T	A	18	80202711	y	n	exonic	PARD6G	synonymous SNV	PARD6G:NM_032510:exon2:c.A294T:p.R98R;	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000463384:exon1:c.A171T:p.R57R;ENSG00000178184:ENST00000470488:exon2:c.A294T:p.R98R;ENSG00000178184:ENST00000353265:exon2:c.A294T:p.R98R;	0.99998221739966	0.998
18	77960594	T	C	18	80202711	y	n	exonic	PARD6G	synonymous SNV	PARD6G:NM_032510:exon2:c.A294G:p.R98R;	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000463384:exon1:c.A171G:p.R57R;ENSG00000178184:ENST00000470488:exon2:c.A294G:p.R98R;ENSG00000178184:ENST00000353265:exon2:c.A294G:p.R98R;	0.999980190946011	0.994
18	77960594	T	G	18	80202711	y	n	exonic	PARD6G	synonymous SNV	PARD6G:NM_032510:exon2:c.A294C:p.R98R;	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000463384:exon1:c.A171C:p.R57R;ENSG00000178184:ENST00000470488:exon2:c.A294C:p.R98R;ENSG00000178184:ENST00000353265:exon2:c.A294C:p.R98R;	0.999957459024164	0.996
18	77960595	C	A	18	80202712	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.G293T:p.R98L;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000463384:exon1:c.G170T:p.R57L;ENSG00000178184:ENST00000470488:exon2:c.G293T:p.R98L;ENSG00000178184:ENST00000353265:exon2:c.G293T:p.R98L;	0.980086909845682	0.706
18	77960595	C	G	18	80202712	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.G293C:p.R98P;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000463384:exon1:c.G170C:p.R57P;ENSG00000178184:ENST00000470488:exon2:c.G293C:p.R98P;ENSG00000178184:ENST00000353265:exon2:c.G293C:p.R98P;	0.950935149377224	0.72
18	77960595	C	T	18	80202712	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.G293A:p.R98Q;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000463384:exon1:c.G170A:p.R57Q;ENSG00000178184:ENST00000470488:exon2:c.G293A:p.R98Q;ENSG00000178184:ENST00000353265:exon2:c.G293A:p.R98Q;	0.856563136612718	0.554
18	77960814	A	C	18	80202931	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.T74G:p.F25C;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon2:c.T74G:p.F25C;ENSG00000178184:ENST00000353265:exon2:c.T74G:p.F25C;	0.788787694847838	0.43
18	77960814	A	G	18	80202931	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.T74C:p.F25S;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon2:c.T74C:p.F25S;ENSG00000178184:ENST00000353265:exon2:c.T74C:p.F25S;	0.810248865789064	0.498
18	77960814	A	T	18	80202931	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.T74A:p.F25Y;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon2:c.T74A:p.F25Y;ENSG00000178184:ENST00000353265:exon2:c.T74A:p.F25Y;	0.128264513864848	0.224
18	77960815	A	C	18	80202932	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.T73G:p.F25V;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon2:c.T73G:p.F25V;ENSG00000178184:ENST00000353265:exon2:c.T73G:p.F25V;	0.813860348376758	0.592
18	77960815	A	G	18	80202932	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.T73C:p.F25L;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon2:c.T73C:p.F25L;ENSG00000178184:ENST00000353265:exon2:c.T73C:p.F25L;	0.867208525215094	0.584
18	77960815	A	T	18	80202932	y	n	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon2:c.T73A:p.F25I;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon2:c.T73A:p.F25I;ENSG00000178184:ENST00000353265:exon2:c.T73A:p.F25I;	0.723396275066965	0.714
18	77960816	C	A	18	80202933	y	n	splicing	PARD6G(NM_032510:exon3:c.73-1G>T)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.99995545544995	0.932
18	77960816	C	G	18	80202933	y	n	splicing	PARD6G(NM_032510:exon3:c.73-1G>C)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.99995545544995	0.934
18	77960816	C	T	18	80202933	y	n	splicing	PARD6G(NM_032510:exon3:c.73-1G>A)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999975938198618	0.932
18	77960817	T	A	18	80202934	y	n	splicing	PARD6G(NM_032510:exon3:c.73-2A>T)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999946188727699	0.938
18	77960817	T	C	18	80202934	y	n	splicing	PARD6G(NM_032510:exon3:c.73-2A>G)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999964896440643	0.936
18	77960817	T	G	18	80202934	y	n	splicing	PARD6G(NM_032510:exon3:c.73-2A>C)	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999964896440643	0.936
18	77960818	A	C	18	80202935	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.771502241651272	0.728
18	77960818	A	G	18	80202935	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	5.02799094563959E-5	0.004
18	77960818	A	T	18	80202935	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.00325113090869741	0.258
18	77960819	C	A	18	80202936	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	2.4419670703288E-5	0.0
18	77960819	C	G	18	80202936	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	9.42772165726729E-6	0.0
18	77960819	C	T	18	80202936	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	2.80117057701682E-5	0.0
18	77960820	A	C	18	80202937	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.274144008562983	0.502
18	77960820	A	G	18	80202937	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.00552166799105141	0.108
18	77960820	A	T	18	80202937	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.9996116015362	0.938
18	77960821	A	C	18	80202938	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999157775183751	0.968
18	77960821	A	G	18	80202938	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	1.22102059519181E-4	0.0
18	77960821	A	T	18	80202938	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.0424600877791218	0.188
18	77960822	T	A	18	80202939	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	1.18101770628721E-5	0.0
18	77960822	T	C	18	80202939	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	7.06341561599038E-6	0.0
18	77960822	T	G	18	80202939	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	1.24462446772325E-5	0.006
18	77960823	G	A	18	80202940	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	4.84335055135243E-5	0.002
18	77960823	G	C	18	80202940	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.00660313417483616	0.142
18	77960823	G	T	18	80202940	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.00145719170488439	0.088
18	77960824	C	A	18	80202941	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	8.38345356858058E-5	0.0
18	77960824	C	G	18	80202941	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	9.81685065106957E-5	0.002
18	77960824	C	T	18	80202941	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	9.912601018101E-5	0.008
18	77960825	A	C	18	80202942	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.706084316607528	0.588
18	77960825	A	G	18	80202942	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.00284757939082628	0.036
18	77960825	A	T	18	80202942	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.999920393942356	0.966
18	77960826	A	C	18	80202943	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.614166724674561	0.6
18	77960826	A	G	18	80202943	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.06617252433833	0.392
18	77960826	A	T	18	80202943	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.632860368555039	0.608
18	77960827	G	A	18	80202944	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	2.95569900481366E-5	0.002
18	77960827	G	C	18	80202944	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.00126795988001142	0.042
18	77960827	G	T	18	80202944	y	n	intronic	PARD6G	.	.	ncRNA_exonic	ENSG00000267251	.	.	0.00279889990603472	0.024
18	78005152	G	A	18	80247269	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.20740353029488E-5	0.0
18	78005152	G	C	18	80247269	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.42906660611409E-5	0.022
18	78005152	G	T	18	80247269	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	2.20740353029488E-5	0.0
18	78005153	G	A	18	80247270	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.58587450537174E-5	0.014
18	78005153	G	C	18	80247270	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.58587450537174E-5	0.042
18	78005153	G	T	18	80247270	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.58587450537174E-5	0.008
18	78005154	G	A	18	80247271	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	4.40352668629079E-5	0.004
18	78005154	G	C	18	80247271	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.3753412980654E-4	0.116
18	78005154	G	T	18	80247271	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	9.47913476570053E-5	0.04
18	78005155	C	A	18	80247272	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	0.843391956701577	0.546
18	78005155	C	G	18	80247272	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	0.230748844440218	0.56
18	78005155	C	T	18	80247272	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	0.303502308009007	0.454
18	78005156	T	A	18	80247273	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	0.0193159089304896	0.276
18	78005156	T	C	18	80247273	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	0.00977866672761722	0.364
18	78005156	T	G	18	80247273	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	0.0169995702952607	0.3
18	78005157	T	A	18	80247274	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	0.0246888737725061	0.256
18	78005157	T	C	18	80247274	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	1.93122643154901E-4	0.01
18	78005157	T	G	18	80247274	y	y	intronic	PARD6G	.	.	intronic	ENSG00000178184	.	.	0.0651397534030879	0.222
18	78005158	A	C	18	80247275	y	y	splicing	PARD6G(NM_032510:exon2:c.72+2T>G)	.	.	splicing	ENSG00000178184(ENST00000353265:exon2:c.72+2T>G;ENST00000470488:exon2:c.72+2T>G)	.	.	0.999991794264552	0.758
18	78005158	A	G	18	80247275	y	y	splicing	PARD6G(NM_032510:exon2:c.72+2T>C)	.	.	splicing	ENSG00000178184(ENST00000353265:exon2:c.72+2T>C;ENST00000470488:exon2:c.72+2T>C)	.	.	0.9364246093975	0.456
18	78005158	A	T	18	80247275	y	y	splicing	PARD6G(NM_032510:exon2:c.72+2T>A)	.	.	splicing	ENSG00000178184(ENST00000353265:exon2:c.72+2T>A;ENST00000470488:exon2:c.72+2T>A)	.	.	0.999989614548265	0.74
18	78005159	C	A	18	80247276	y	y	splicing	PARD6G(NM_032510:exon2:c.72+1G>T)	.	.	splicing	ENSG00000178184(ENST00000353265:exon2:c.72+1G>T;ENST00000470488:exon2:c.72+1G>T)	.	.	0.999322499065183	0.616
18	78005159	C	G	18	80247276	y	y	splicing	PARD6G(NM_032510:exon2:c.72+1G>C)	.	.	splicing	ENSG00000178184(ENST00000353265:exon2:c.72+1G>C;ENST00000470488:exon2:c.72+1G>C)	.	.	0.999322499065183	0.612
18	78005159	C	T	18	80247276	y	y	splicing	PARD6G(NM_032510:exon2:c.72+1G>A)	.	.	splicing	ENSG00000178184(ENST00000353265:exon2:c.72+1G>A;ENST00000470488:exon2:c.72+1G>A)	.	.	0.999322499065183	0.62
18	78005160	C	A	18	80247277	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon1:c.G72T:p.K24N;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon1:c.G72T:p.K24N;ENSG00000178184:ENST00000353265:exon1:c.G72T:p.K24N;	0.936060462673809	0.744
18	78005160	C	G	18	80247277	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon1:c.G72C:p.K24N;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon1:c.G72C:p.K24N;ENSG00000178184:ENST00000353265:exon1:c.G72C:p.K24N;	0.947354520027336	0.664
18	78005160	C	T	18	80247277	y	y	exonic	PARD6G	synonymous SNV	PARD6G:NM_032510:exon1:c.G72A:p.K24K;	exonic	ENSG00000178184	synonymous SNV	ENSG00000178184:ENST00000470488:exon1:c.G72A:p.K24K;ENSG00000178184:ENST00000353265:exon1:c.G72A:p.K24K;	0.290262017256039	0.64
18	78005161	T	A	18	80247278	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon1:c.A71T:p.K24M;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon1:c.A71T:p.K24M;ENSG00000178184:ENST00000353265:exon1:c.A71T:p.K24M;	0.978955294687595	0.67
18	78005161	T	C	18	80247278	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon1:c.A71G:p.K24R;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon1:c.A71G:p.K24R;ENSG00000178184:ENST00000353265:exon1:c.A71G:p.K24R;	0.875582793926419	0.626
18	78005161	T	G	18	80247278	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon1:c.A71C:p.K24T;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon1:c.A71C:p.K24T;ENSG00000178184:ENST00000353265:exon1:c.A71C:p.K24T;	0.978287476315244	0.846
18	78005162	T	A	18	80247279	y	y	exonic	PARD6G	stopgain SNV	PARD6G:NM_032510:exon1:c.A70T:p.K24X;	exonic	ENSG00000178184	stopgain SNV	ENSG00000178184:ENST00000470488:exon1:c.A70T:p.K24X;ENSG00000178184:ENST00000353265:exon1:c.A70T:p.K24X;	0.816235072625746	0.492
18	78005162	T	C	18	80247279	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon1:c.A70G:p.K24E;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon1:c.A70G:p.K24E;ENSG00000178184:ENST00000353265:exon1:c.A70G:p.K24E;	0.0371535278239757	0.178
18	78005162	T	G	18	80247279	y	y	exonic	PARD6G	nonsynonymous SNV	PARD6G:NM_032510:exon1:c.A70C:p.K24Q;	exonic	ENSG00000178184	nonsynonymous SNV	ENSG00000178184:ENST00000470488:exon1:c.A70C:p.K24Q;ENSG00000178184:ENST00000353265:exon1:c.A70C:p.K24Q;	0.00421024325853283	0.054